13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:10999783G>T	ENST00000228811.4	-	3	321	c.284C>A	c.(283-285)cCc>cAc	p.P95H	PRR4_ENST00000540107.1_Silent_p.T37T|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Intron	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	95	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						TCCTCGTCGGGGTGGTCGTTG	0.547													30	184					1.7881e-09	1.96216e-09	1	0	T	10999783	G	T	10999783	3	4	376	1	0	0	0	0	1	0	0	0	12678	1232	43	4	124	4	PRR4	12	10999783	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08		10999783	122852112	64	72445											
DDX11	1663	broad.mit.edu	37	chr12	31255198	31255198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattccaggaacctaagagcGcacaccaggtggagcaggtg	12	6	13	10	1	0	1	0	0	0	1	1	3	1	3	3	4	3	2	3	4	3	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:31255198G>A	ENST00000407793.2	+	22	2475	c.2224G>A	c.(2224-2226)Gca>Aca	p.A742T	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A716T|DDX11_ENST00000350437.4_Missense_Mutation_p.A692T|DDX11_ENST00000542838.1_Missense_Mutation_p.A742T|DDX11_ENST00000545668.1_Missense_Mutation_p.A742T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	742					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCTAAGAGCGCACACCAGGT	0.577										Multiple Myeloma(12;0.14)			5	61					0	0	0	0	A	31255198	G	A	31255198	3	1	376	1	0	0	0	0	1	0	0	0	4375	1087	38	1	2306	1	DDX11	12	31255198	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	20255415	31255198	102596697	65	72446											
KRT75	9119	broad.mit.edu	37	chr12	52825420	52825420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatataggcagcatctacGtcctggaatgacagcgcagg	11	9	11	10	2	2	1	1	1	1	0	3	2	3	2	1	3	3	3	1	3	4	4			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:52825420G>A	ENST00000252245.5	-	4	997	c.777C>T	c.(775-777)gaC>gaT	p.D259D		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	259	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGCATCTACGTCCTGGAATG	0.498													15	47					0	0	0	0	A	52825420	G	A	52825420	2	1	376	1	0	0	0	0	0	0	0	1	8540	1136	40	1		1	KRT75	12	52825420	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	21570222	52825420	81026475	66	72447											
KRT71	112802	broad.mit.edu	37	chr12	52943098	52943098	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgagcagcacaaactcGttctctgctgctgtccgctt	6	14	8	13	2	2	1	0	1	2	0	5	1	3	1	1	0	5	6	1	0	1	4	rs147275737		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:52943098G>A	ENST00000267119.5	-	3	765	c.696C>T	c.(694-696)aaC>aaT	p.N232N		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	232	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCACAAACTCGTTCTCTGCTG	0.567													4	137					0	0	0	0	A	52943098	G	A	52943098	2	1	376	1	0	0	0	0	0	0	0	1	8536	1136	40	1		1	KRT71	12	52943098	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	117678	52943098	80908797	67	72448											
TBC1D15	64786	broad.mit.edu	37	chr12	72289857	72289857	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagatgatatttagaggggTaatttaaacactctaatatg	15	13	9	4	0	1	3	0	1	1	2	1	3	1	3	0	2	1	2	0	2	7	8			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:72289857T>C	ENST00000550746.1	+	9	1099		c.e9+2		TBC1D15_ENST00000485960.2_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15								protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTAGAGGGGTAATTTAAACA	0.328													10	38					0	0	0	0	C	72289857	T	C	72289857	5	2	376	1	0	0	0	0	0	0	1	0	15695	1652	57	5	1195	5	TBC1D15	12	72289857	Splice_Site	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08	19346759	72289857	61562038	68	72449											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75804313	75804313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtacaaatggtccatcctAaattttatggtattggtgaa	13	15	8	5	0	0	1	0	1	0	0	2	1	2	1	2	3	1	2	2	3	7	6	rs150816381		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:75804313A>G	ENST00000550916.1	+	2	381	c.334A>G	c.(334-336)Aaa>Gaa	p.K112E	GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.K5E|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.K47E	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	112						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GGTCCATCCTAAATTTTATGG	0.363													18	37					0	0	0	0	G	75804313	A	G	75804313	3	3	376	1	0	0	0	0	1	0	0	0	6494	363	13	5	340	5	GLIPR1L2	12	75804313	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	3514456	75804313	58047582	69	72450											
VEZT	55591	broad.mit.edu	37	chr12	95676135	95676135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttcagagttcttcagacGgttagccctattactttcta	9	15	8	9	1	4	2	2	0	2	2	4	3	4	2	1	1	2	3	1	1	4	8			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:95676135G>A	ENST00000436874.1	+	8	1148	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	VEZT_ENST00000261219.6_Missense_Mutation_p.R300Q|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTCTTCAGACGGTTAGCCCTA	0.408													8	32					0	0	0	0	A	95676135	G	A	95676135	3	1	376	1	0	0	0	0	1	0	0	0	17252	1116	39	1	1073	1	VEZT	12	95676135	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	19871822	95676135	38175760	70	72451											
P2RX2	22953	broad.mit.edu	37	chr12	133197147	133197147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggagaaggctggggagaGcttcacagagctcgcacaca	11	5	15	10	2	1	3	1	0	0	3	2	5	1	3	0	4	2	4	0	4	1	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:133197147G>A	ENST00000389110.3	+	7	789	c.752G>A	c.(751-753)aGc>aAc	p.S251N	P2RX2_ENST00000351222.4_Missense_Mutation_p.S159N|P2RX2_ENST00000343948.4_Missense_Mutation_p.S251N|P2RX2_ENST00000350048.5_Missense_Mutation_p.S227N|P2RX2_ENST00000348800.5_Missense_Mutation_p.S251N|P2RX2_ENST00000449132.2_Silent_p.E215E|P2RX2_ENST00000352418.4_Missense_Mutation_p.S179N	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	251					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCTGGGGAGAGCTTCACAGAG	0.647													11	78					0	0	0	0	A	133197147	G	A	133197147	3	1	376	1	0	0	0	0	1	0	0	0	11411	971	34	4	778	4	P2RX2	12	133197147	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	37521012	133197147	654748	71	72452											
CHFR	55743	broad.mit.edu	37	chr12	133423707	133423707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatgtcaaacctctggttgCcaggtaattctgtgacgcaa	10	11	9	11	1	3	1	1	1	2	0	3	1	3	1	3	2	2	3	3	2	3	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:133423707C>T	ENST00000266880.7	-	16	1753	c.1690G>A	c.(1690-1692)Gca>Aca	p.A564T	CHFR_ENST00000443047.2_Missense_Mutation_p.A473T|CHFR_ENST00000315585.7_Missense_Mutation_p.A524T|CHFR_ENST00000432561.2_Missense_Mutation_p.A565T|CHFR_ENST00000537522.1_Missense_Mutation_p.A187T|CHFR_ENST00000450056.2_Missense_Mutation_p.A553T|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000541341.1_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	565					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCTCTGGTTGCCAGGTAATTC	0.448													25	59					0	0	0	0	T	133423707	C	T	133423707	3	4	376	1	0	0	0	0	1	0	0	0	3366	739	26	4	317	4	CHFR	12	133423707	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	226560	133423707	428188	72	72453											
FBXL3	26224	broad.mit.edu	37	chr13	77589583	77589583	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagctgctcattttcaacaGcttgagtgtatcactattgt	10	15	7	9	0	3	1	3	1	0	0	3	1	3	1	0	0	4	4	0	0	3	6			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr13:77589583G>A	ENST00000355619.5	-	4	928	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	FBXL3_ENST00000477982.1_5'UTR	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	202					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATTTTCAACAGCTTGAGTGTA	0.388													30	56					0	0	0	0	A	77589583	G	A	77589583	2	1	376	1	0	0	0	0	0	0	0	1	5765	962	34	4		4	FBXL3	13	77589583	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08		77589583	37580295	73	72454											
OR10G2	26534	broad.mit.edu	37	chr14	22102491	22102491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcccacagtagggcaggcGgaaggtcaaggtggcctgga	9	4	19	9	1	1	0	1	0	0	0	1	2	1	2	2	8	0	2	2	8	3	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:22102491G>A	ENST00000542433.1	-	1	605	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TAGGGCAGGCGGAAGGTCAAG	0.552													8	71					0	0	0	0	A	22102491	G	A	22102491	3	1	376	1	0	0	0	0	1	0	0	0	10970	1116	39	1	427	1	OR10G2	14	22102491	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08		22102491	85247049	74	72455											
SEL1L	6400	broad.mit.edu	37	chr14	81994065	81994065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggaatctaaggattcatCctggctgccttcttcatctg	7	15	8	11	0	5	0	2	0	3	0	6	2	6	2	2	3	1	1	2	3	2	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:81994065C>T	ENST00000336735.4	-	2	204	c.88G>A	c.(88-90)Gat>Aat	p.D30N	SEL1L_ENST00000555824.1_Missense_Mutation_p.D30N	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	30	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AAGGATTCATCCTGGCTGCCT	0.308													4	21					0	0	0	0	T	81994065	C	T	81994065	3	4	376	1	0	0	0	0	1	0	0	0	14097	855	30	2	2376	2	SEL1L	14	81994065	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	59891574	81994065	25355475	75	72456											
PPP2R5C	5527	broad.mit.edu	37	chr14	102356620	102356620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggcatagcagagttactgGaaatattgggaaggtaagcc	14	9	13	5	0	0	1	0	0	0	1	0	3	0	3	1	4	3	4	1	4	6	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:102356620G>A	ENST00000422945.2	+	8	865	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E226K|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.E226K|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E226K|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E281K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E226K	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	226					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAGTTACTGGAAATATTGGG	0.378													5	43					0	0	0	0	A	102356620	G	A	102356620	3	1	376	1	0	0	0	0	1	0	0	0	12470	1175	41	2	1067	2	PPP2R5C	14	102356620	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	20362555	102356620	4992920	76	72457											
BRF1	2972	broad.mit.edu	37	chr14	105677540	105677540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcgtcagcctcctcgtCggcgtggtatgacacgggcc	4	9	12	16	5	1	1	1	1	0	0	6	1	3	1	4	3	1	1	4	3	1	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:105677540C>T	ENST00000546474.1	-	17	16874	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	639					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCTCCTCGTCGGCGTGGTAT	0.682													10	55					0	0	0	0	T	105677540	C	T	105677540	3	4	376	1	0	0	0	0	1	0	0	0	1518	884	31	1	126	1	BRF1	14	105677540	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	3320920	105677540	1672000	77	72458											
ANP32A	8125	broad.mit.edu	37	chr15	69113049	69113049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgctcacatcagagggcgtCctgttccgcagctctaaatg	9	10	10	12	2	3	1	2	0	1	1	5	1	5	1	2	1	2	4	2	1	2	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:69113049C>T	ENST00000465139.2	-	1	185	c.42G>A	c.(40-42)agG>agA	p.R14R	ANP32A_ENST00000560303.1_Silent_p.R14R|SPESP1_ENST00000560188.1_Intron	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	14					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						CAGAGGGCGTCCTGTTCCGCA	0.542													10	33					0	0	0	0	T	69113049	C	T	69113049	2	4	376	1	0	0	0	0	0	0	0	1	704	854	30	2		2	ANP32A	15	69113049	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		69113049	33418343	78	72459											
TLE3	7090	broad.mit.edu	37	chr15	70368499	70368499	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttcgcaatctctgtcTgcaaaggcaaggagaccaca	11	9	9	12	1	3	1	0	0	3	1	6	2	3	1	1	2	1	3	1	2	3	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:70368499T>C	ENST00000558939.1	-	5	1612		c.e5-2		TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000557907.1_Splice_Site|TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000539550.1_Splice_Site			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)						organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCTCTGTCTGCAAAGGCAA	0.433													21	88					0	0	0	0	C	70368499	T	C	70368499	5	2	376	1	0	0	0	0	0	0	1	0	16034	1594	55	5	2149	5	TLE3	15	70368499	Splice_Site	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08	1255450	70368499	32162893	79	72460											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84705637	84705637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttccagtctcggaaagtcGactgtatccacacaaggagt	11	10	10	10	2	1	0	0	0	1	0	5	3	3	2	2	2	0	2	2	2	3	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:84705637G>A	ENST00000286744.5	+	29	5091	c.4867G>A	c.(4867-4869)Gac>Aac	p.D1623N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1623N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1623	TSP type-1 10.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCGGAAAGTCGACTGTATCCA	0.542													8	22					0	0	0	0	A	84705637	G	A	84705637	3	1	376	1	0	0	0	0	1	0	0	0	276	1058	37	1	4977	1	ADAMTSL3	15	84705637	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	14337138	84705637	17825755	80	72461											
GSG2	83903	broad.mit.edu	37	chr17	3628634	3628634	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtttatggggaatgcagtCagaagggtcctgtccccttt	8	12	13	8	0	1	1	1	0	0	1	3	2	3	2	3	4	1	2	3	4	3	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:3628634C>T	ENST00000325418.4	+	1	1424	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	469					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GGAATGCAGTCAGAAGGGTCC	0.448													9	51					0	0	0	0	T	3628634	C	T	3628634	4	4	376	1	0	0	0	0	0	1	0	0	6872	827	29	2	1407	2	GSG2	17	3628634	Nonsense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		3628634	77566576	81	72462											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	47					0	0	0	0	C	7578394	T	C	7578394	3	2	376	1	0	0	0	0	1	0	0	0	16476	1464	51	5	762	5	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08	3949760	7578394	73616816	82	72463											
MYO1D	4642	broad.mit.edu	37	chr17	30981575	30981575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacatttccacggctgcaaCctttgccctgacctggggca	8	9	9	15	1	0	1	0	1	0	0	1	1	1	1	4	3	4	3	4	3	2	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:30981575C>T	ENST00000318217.5	-	18	2714	c.2410G>A	c.(2410-2412)Gtt>Att	p.V804I	MYO1D_ENST00000579584.1_Missense_Mutation_p.V804I|MYO1D_ENST00000394649.4_Missense_Mutation_p.V716I|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	804						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACGGCTGCAACCTTTGCCCTG	0.517													16	39					0	0	0	0	T	30981575	C	T	30981575	3	4	376	1	0	0	0	0	1	0	0	0	10141	507	18	4	630	4	MYO1D	17	30981575	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	23403181	30981575	50213635	83	72464											
CRHR1	1394	broad.mit.edu	37	chr17	43912044	43912044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggacaagcactcgatcCgtgcccgagtggcccgtgcc	7	5	14	15	4	0	0	0	0	0	0	2	3	1	1	4	3	3	2	4	3	1	0			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:43912044C>T	ENST00000314537.5	+	13	1387	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	CRHR1_ENST00000398285.3_Missense_Mutation_p.R417C|CRHR1_ENST00000352855.5_Missense_Mutation_p.R348C|CRHR1_ENST00000339069.5_Silent_p.S241S|CRHR1_ENST00000577353.1_Missense_Mutation_p.R374C|CRHR1_ENST00000293493.7_Missense_Mutation_p.R213C	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	417					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCACTCGATCCGTGCCCGAGT	0.627													10	66					0	0	0	0	T	43912044	C	T	43912044	3	4	376	1	0	0	0	0	1	0	0	0	3901	652	23	1	1303	1	CRHR1	17	43912044	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	12930469	43912044	37283166	84	72465											
RSAD1	55316	broad.mit.edu	37	chr17	48559727	48559727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccttccagcccctgacccGgagctcgcagctgagatgta	7	7	11	16	2	0	2	0	2	0	1	2	4	1	3	5	1	3	4	5	1	1	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:48559727G>A	ENST00000258955.2	+	4	835	c.750G>A	c.(748-750)ccG>ccA	p.P250P		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	250					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCCCTGACCCGGAGCTCGCAG	0.637											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	79					0	0	0	0	A	48559727	G	A	48559727	2	1	376	1	0	0	0	0	0	0	0	1	13779	1103	39	1		1	RSAD1	17	48559727	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	4647683	48559727	32635483	85	72466											
ARHGDIA	396	broad.mit.edu	37	chr17	79827748	79827749	+	Frame_Shift_Ins	INS	-	-	C																															gttgaccgagtgctcatcctINScctcgttctccgctgcaatc																										TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:79827748_79827749insC	ENST00000269321.7	-	2	193_194	c.58_59insG	c.(58-60)ggafs	p.G20fs	ARHGDIA_ENST00000581876.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000584461.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000541078.2_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000580685.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000400721.4_Frame_Shift_Ins_p.G20fs	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	20					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTGCTCATCCTCCTCGTTCTCC	0.624													23	54	---	---	---	---					C	79827749	-	C	79827748	7	5	376	1	0	1	1	0	0	0	0	0	892	1551	54	0	575	0	ARHGDIA	17	79827748	Frame_Shift_Ins	INS	-	TCGA-D6-A6EM-01A-21D-A31L-08	31268021	79827748	1367462	86	72467											
CHST9	83539	broad.mit.edu	37	chr18	24496575	24496575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaactctttgaacttgactCcagatccattaattaatgct	13	15	4	9	0	1	3	0	2	1	1	3	3	3	3	2	0	3	1	2	0	5	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr18:24496575C>A	ENST00000284224.8	-	6	1257	c.980G>T	c.(979-981)gGa>gTa	p.G327V	CHST9_ENST00000581714.1_Missense_Mutation_p.G327V|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	327					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GAACTTGACTCCAGATCCATT	0.413													15	97					1.3612e-06	1.40658e-06	1	0	A	24496575	C	A	24496575	3	1	376	1	0	0	0	0	1	0	0	0	3440	855	30	2	355	2	CHST9	18	24496575	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		24496575	53580673	87	72468											
C3	718	broad.mit.edu	37	chr19	6702579	6702579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttctgcaatgatgtcctCatccaggttacctgcagggg	7	12	10	12	0	3	1	1	1	2	0	5	1	5	1	3	3	3	3	3	3	2	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:6702579C>T	ENST00000245907.6	-	18	2349	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	753					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATGATGTCCTCATCCAGGTTA	0.517													12	51					0	0	0	0	T	6702579	C	T	6702579	3	4	376	1	0	0	0	0	1	0	0	0	2224	835	29	2	2830	2	C3	19	6702579	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		6702579	52426404	88	72469											
LPHN1	22859	broad.mit.edu	37	chr19	14273468	14273468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgtagcgcaccacgaaaTagttgttccagacgtacagc	11	8	11	11	3	0	1	0	0	0	1	1	2	1	1	2	1	3	6	2	1	4	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:14273468T>C	ENST00000340736.6	-	6	1457	c.1160A>G	c.(1159-1161)tAt>tGt	p.Y387C	LPHN1_ENST00000361434.3_Missense_Mutation_p.Y382C|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	387	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCACGAAATAGTTGTTCCA	0.607													18	115					0	0	0	0	C	14273468	T	C	14273468	3	2	376	1	0	0	0	0	1	0	0	0	8979	1406	49	5	3340	5	LPHN1	19	14273468	Missense_Mutation	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08	7570889	14273468	44855515	89	72470											
CIC	23152	broad.mit.edu	37	chr19	42793356	42793356	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctggccctgcatcgtaCtctggcccaaagccttctac	6	11	9	15	1	3	0	0	0	3	0	4	0	3	0	3	2	4	2	3	2	3	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:42793356C>G	ENST00000572681.2	+	9	3953	c.3885C>G	c.(3883-3885)taC>taG	p.Y1295*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Y386*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Y386*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	386	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGCATCGTACTCTGGCCCAA	0.672			"Mis, F, S"		oligodendroglioma								27	125					0	0	0	0	G	42793356	C	G	42793356	4	3	376	1	0	0	0	0	0	1	0	0	3453	576	20	4	1188	4	CIC	19	42793356	Nonsense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	28519888	42793356	16335627	90	72471											
PSG3	5671	broad.mit.edu	37	chr19	43233289	43233289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccagagactttgactGtcatggatttggagctttcc	9	14	9	9	0	1	2	1	1	0	1	2	5	2	4	2	2	2	1	2	2	1	4			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:43233289G>A	ENST00000327495.5	-	5	1413	c.1229C>T	c.(1228-1230)aCa>aTa	p.T410I	PSG3_ENST00000595140.1_Missense_Mutation_p.T410I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	410	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GACTTTGACTGTCATGGATTT	0.448													4	155					0	0	0	0	A	43233289	G	A	43233289	3	1	376	1	0	0	0	0	1	0	0	0	12735	1377	48	4	65	4	PSG3	19	43233289	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	439933	43233289	15895694	91	72472											
FPR3	2359	broad.mit.edu	37	chr19	52327257	52327257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccgaatggtctcagtcGccatgagagaaaaatggcct	12	9	10	10	2	1	2	1	1	1	1	4	4	2	2	3	2	0	0	3	2	3	1	rs143250626	by1000genomes	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:52327257G>A	ENST00000339223.4	+	2	435	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	FPR3_ENST00000595991.1_Missense_Mutation_p.A86T	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	86					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.A86S(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGTCTCAGTCGCCATGAGAGA	0.453													13	62					0	0	0	0	A	52327257	G	A	52327257	3	1	376	1	0	0	0	0	1	0	0	0	6087	1087	38	1	258	1	FPR3	19	52327257	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	9093968	52327257	6801726	92	72473											
ZNF772	400720	broad.mit.edu	37	chr19	57987107	57987107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatcaaggagcacccaCtcctcctgggagaagtacac	11	6	9	15	0	2	1	2	0	0	1	4	3	4	2	4	2	2	2	4	2	3	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:57987107C>T	ENST00000343280.4	-	3	380	c.120G>A	c.(118-120)gaG>gaA	p.E40E	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Silent_p.E40E|ZNF772_ENST00000356584.3_Silent_p.E40E|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGAGCACCCACTCCTCCTGGG	0.562													15	96					0	0	0	0	T	57987107	C	T	57987107	2	4	376	1	0	0	0	0	0	0	0	1	18238	564	20	4		4	ZNF772	19	57987107	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	5659850	57987107	1141876	93	72474											
PLCB1	23236	broad.mit.edu	37	chr20	8130994	8130994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgaccctcagggatttttCttttactggacagatcaaaa	12	13	7	9	0	3	2	2	1	1	1	3	4	3	4	1	2	1	0	1	2	3	4			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:8130994C>G	ENST00000378641.3	+	2	628	c.153C>G	c.(151-153)ttC>ttG	p.F51L	PLCB1_ENST00000378637.2_Missense_Mutation_p.F51L|PLCB1_ENST00000338037.6_Missense_Mutation_p.F51L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	51					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGGATTTTTCTTTTACTGGA	0.313													4	44					0	0	0	0	G	8130994	C	G	8130994	3	3	376	1	0	0	0	0	1	0	0	0	12099	912	32	2	159	2	PLCB1	20	8130994	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		8130994	54894526	94	72475											
EIF2S2	8894	broad.mit.edu	37	chr20	32685276	32685276	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcagggcctgtctgattActgaatgagataccatcatc	12	10	9	10	0	2	3	1	3	1	1	3	4	2	3	2	1	3	1	2	1	4	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:32685276A>G	ENST00000374980.2	-	5	701	c.480T>C	c.(478-480)agT>agC	p.S160S		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	160						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CTGTCTGATTACTGAATGAGA	0.408													8	33					0	0	0	0	G	32685276	A	G	32685276	2	3	376	1	0	0	0	0	0	0	0	1	5046	388	14	5		5	EIF2S2	20	32685276	Silent	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	24554282	32685276	30340244	95	72476											
NFATC2	4773	broad.mit.edu	37	chr20	50051779	50051779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcttcccattgatgaCgtagaagttcacttttacag	9	17	6	9	1	2	3	1	2	1	1	4	3	3	3	1	0	1	2	1	0	3	8			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:50051779C>T	ENST00000371564.3	-	8	2197	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	NFATC2_ENST00000414705.1_Missense_Mutation_p.V640I|NFATC2_ENST00000396009.3_Missense_Mutation_p.V660I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	660					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCATTGATGACGTAGAAGTTC	0.428													14	121					0	0	0	0	T	50051779	C	T	50051779	3	4	376	1	0	0	0	0	1	0	0	0	10432	536	19	1	859	1	NFATC2	20	50051779	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	17366503	50051779	12973741	96	72477											
LAMA5	3911	broad.mit.edu	37	chr20	60887781	60887781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctgtacaccgtggccCgctccacacgcaccagcaca	9	4	8	20	4	0	0	0	0	0	0	1	0	1	0	5	1	2	5	5	1	1	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:60887781C>T	ENST00000252999.3	-	67	9200	c.9134G>A	c.(9133-9135)cGg>cAg	p.R3045Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3045	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCGTGGCCCGCTCCACACG	0.687													3	9					0	0	0	0	T	60887781	C	T	60887781	3	4	376	1	0	0	0	0	1	0	0	0	8662	652	23	1	2009	1	LAMA5	20	60887781	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	10836002	60887781	2137739	97	72478											
DIDO1	11083	broad.mit.edu	37	chr20	61512130	61512130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcgccgggtctggcCtgtggctctctgtccccctc	0	11	12	18	2	2	0	0	0	2	0	6	0	3	0	5	3	1	1	5	3	0	0			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:61512130C>A	ENST00000266070.4	-	16	5503	c.5178G>T	c.(5176-5178)caG>caT	p.Q1726H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1726H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1726	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGGTCTGGCCTGTGGCTCTC	0.642													19	119					1.9806e-07	2.11719e-07	1	0	A	61512130	C	A	61512130	3	1	376	1	0	0	0	0	1	0	0	0	4559	680	24	4	1548	4	DIDO1	20	61512130	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	624349	61512130	1513390	98	72479											
PCNT	5116	broad.mit.edu	37	chr21	47775531	47775531	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtctggaaccctctgaaggGcacagccaaggtgggcccct	8	6	13	14	1	2	1	0	1	2	0	2	2	2	2	4	4	2	1	4	4	3	0			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr21:47775531G>T	ENST00000359568.5	+	12	2033	c.1926G>T	c.(1924-1926)ggG>ggT	p.G642G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	642	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCTGAAGGGCACAGCCAAG	0.642													6	19					0.00116845	0.0011876	1	0	T	47775531	G	T	47775531	2	4	376	1	0	0	0	0	0	0	0	1	11661	1190	42	4		4	PCNT	21	47775531	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08		47775531	354364	99	72480											
DGCR2	9993	broad.mit.edu	37	chr22	19076977	19076977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgccgctgcgacacgCaaactgcccagggttgcacc	8	6	13	14	3	0	0	0	0	0	0	0	2	0	0	3	2	5	4	3	2	1	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr22:19076977C>T	ENST00000545799.1	-	2	306	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000263196.7_Missense_Mutation_p.A36T			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	36	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTGCGACACGCAAACTGCCCA	0.622													9	42					0	0	0	0	T	19076977	C	T	19076977	3	4	376	1	0	0	0	0	1	0	0	0	4498	710	25	4	1582	4	DGCR2	22	19076977	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		19076977	32227589	100	72481											
RPL3	6122	broad.mit.edu	37	chr22	39713632	39713632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacctccttcttgttcaCctctgcaaaaaaaaagcagt	13	10	4	14	0	3	0	1	0	2	0	4	0	4	0	4	0	2	3	4	0	4	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr22:39713632C>T	ENST00000216146.4	-	3	372	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	RPL3_ENST00000401609.1_Missense_Mutation_p.V15M|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	67					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TTCTTGTTCACCTCTGCAAAA	0.532													19	93					0	0	0	0	T	39713632	C	T	39713632	3	4	376	1	0	0	0	0	1	0	0	0	13664	507	18	4	1044	4	RPL3	22	39713632	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	20636655	39713632	11590934	101	72482											
ARHGAP6	395	broad.mit.edu	37	chrX	11197558	11197558	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacatcaatcccacggtcAaattcctcacgtaactggaa	14	8	7	12	2	3	1	3	0	0	1	5	3	5	2	2	2	1	1	2	2	4	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:11197558A>C	ENST00000337414.4	-	7	2216	c.1344T>G	c.(1342-1344)ttT>ttG	p.F448L	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.F480L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.F273L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.F245L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.F245L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.F257L|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.F448L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	448	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCCACGGTCAAATTCCTCAC	0.517													17	44					0	0	0	0	C	11197558	A	C	11197558	3	2	376	1	0	0	0	0	1	0	0	0	889	127	5	5	1730	5	ARHGAP6	23	11197558	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08		11197558	144073002	102	72483											
FIGF	2277	broad.mit.edu	37	chrX	15381434	15381434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgttccaatgtggactgaGatgatcgcttaaaaaaacaa	16	10	8	7	2	0	2	0	2	0	1	3	4	1	3	1	1	1	2	1	1	6	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:15381434G>C	ENST00000297904.3	-	2	527	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	33					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGTGGACTGAGATGATCGCTT	0.353													5	37					0	0	0	0	C	15381434	G	C	15381434	3	2	376	1	0	0	0	0	1	0	0	0	5934	942	33	2	990	2	FIGF	23	15381434	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	4183876	15381434	139889126	103	72484											
CYLC1	1538	broad.mit.edu	37	chrX	83128513	83128513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattttgatgcatggttaaGgaattactcacagaataatt	16	14	7	4	0	1	2	1	1	0	1	1	3	1	3	0	2	2	2	0	2	6	6			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:83128513G>A	ENST00000329312.4	+	4	834	c.797G>A	c.(796-798)aGg>aAg	p.R266K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	266					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCATGGTTAAGGAATTACTCA	0.318													6	29					0	0	0	0	A	83128513	G	A	83128513	3	1	376	1	0	0	0	0	1	0	0	0	4173	1000	35	4	811	4	CYLC1	23	83128513	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	67747079	83128513	72142047	104	72485											
CYLC1	1538	broad.mit.edu	37	chrX	83129517	83129517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagcaagtacaggtagagttCctccatcaagagaaaaacca	18	6	8	9	0	1	2	1	0	0	2	3	3	3	2	3	1	3	4	3	1	7	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:83129517C>T	ENST00000329312.4	+	4	1838	c.1801C>T	c.(1801-1803)Cct>Tct	p.P601S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	601	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGGTAGAGTTCCTCCATCAAG	0.448													9	39					0	0	0	0	T	83129517	C	T	83129517	3	4	376	1	0	0	0	0	1	0	0	0	4173	855	30	2	1815	2	CYLC1	23	83129517	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	1004	83129517	72141043	105	72486											
PCDH11X	27328	broad.mit.edu	37	chrX	91132781	91132781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgctccacctgaattcagCctggattgtcgtacaggcat	9	11	10	11	1	1	1	1	1	0	0	3	3	2	2	3	2	3	3	3	2	2	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:91132781C>A	ENST00000373094.1	+	2	2387	c.1542C>A	c.(1540-1542)agC>agA	p.S514R	PCDH11X_ENST00000395337.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S514R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S514R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	514	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAATTCAGCCTGGATTGTC	0.438													16	36					1.3612e-06	1.40658e-06	1	0	A	91132781	C	A	91132781	3	1	376	1	0	0	0	0	1	0	0	0	11579	738	26	4	1548	4	PCDH11X	23	91132781	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	8003264	91132781	64137779	106	72487											
ESX1	80712	broad.mit.edu	37	chrX	103499135	103499135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcacggtcttggtcgtccGaggggacggacccttccgtg	4	9	14	14	5	2	0	1	0	1	0	5	3	4	2	4	5	0	0	4	5	0	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:103499135G>A	ENST00000372588.4	-	2	289	c.206C>T	c.(205-207)tCg>tTg	p.S69L		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	69					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TTGGTCGTCCGAGGGGACGGA	0.647													25	238					0	0	0	0	A	103499135	G	A	103499135	3	1	376	1	0	0	0	0	1	0	0	0	5301	1059	37	1	1026	1	ESX1	23	103499135	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	12366354	103499135	51771425	107	72488											
SERPINA7	6906	broad.mit.edu	37	chrX	105280480	105280480	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggtgtttggcttgaggtcTtgaattagacccacaacttt	9	15	10	7	0	1	3	0	2	1	1	1	3	1	3	1	3	1	2	1	3	3	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:105280480T>A	ENST00000327674.4	-	1	905	c.570A>T	c.(568-570)caA>caT	p.Q190H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q190H			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	190					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTTGAGGTCTTGAATTAGAC	0.413													32	106					0	0	0	0	A	105280480	T	A	105280480	3	1	376	1	0	0	0	0	1	0	0	0	14181	1606	56	5	693	5	SERPINA7	23	105280480	Missense_Mutation	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08	1781345	105280480	49990080	108	72489											
CHRDL1	91851	broad.mit.edu	37	chrX	110002960	110002960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatttggacatctgactCggctgcaaagcacattccca	12	9	8	12	1	1	1	0	1	1	0	3	3	2	2	1	2	3	3	1	2	2	2	rs149609884		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:110002960C>A	ENST00000218054.4	-	4	426	c.230G>T	c.(229-231)cGa>cTa	p.R77L	CHRDL1_ENST00000434224.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R77L|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R77L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R71L	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	71	VWFC 1.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.R77Q(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACATCTGACTCGGCTGCAAAG	0.443													13	128					7.93312e-07	8.3365e-07	1	0	A	110002960	C	A	110002960	3	1	376	1	0	0	0	0	1	0	0	0	3402	884	31	3	1182	3	CHRDL1	23	110002960	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	4722480	110002960	45267600	109	72490											
PNMA5	114824	broad.mit.edu	37	chrX	152159047	152159047	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgcctgcacggtggcctGaggtgcagagacactggctt	6	9	14	12	1	0	2	0	1	0	1	0	3	0	2	3	4	3	3	3	4	0	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:152159047G>A	ENST00000439251.1	-	2	1534	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	PNMA5_ENST00000452693.1_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000361887.5_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000535214.1_Nonsense_Mutation_p.Q366*	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	366					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGTGGCCTGAGGTGCAGAG	0.587													25	97					0	0	0	0	A	152159047	G	A	152159047	4	1	376	1	0	0	0	0	0	1	0	0	12228	1299	45	2	254	2	PNMA5	23	152159047	Nonsense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	42156087	152159047	3111513	110	72491											
EPHA2	1969	broad.mit.edu	37	chr1	16475080	16475094	+	In_Frame_Del	DEL	GCAGCAGCTCGGGGC	GCAGCAGCTCGGGGC	-																															agggaagtgggccaggccctGcagcagctcggggcacttct																										TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:16475080_16475094delGCAGCAGCTCGGGGC	ENST00000358432.5	-	3	756_770	c.602_616delGCCCCGAGCTGCTGC	c.(601-618)tag>t	p.CPELLQ201del	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	201	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCCAGGCCCTGCAGCAGCTCGGGGCACTTCTTGTA	0.665													16	25	---	---	---	---					-	16475094	GCAGCAGCTCGGGGC	-	16475080	7	5	377	1	0	1	0	1	0	0	0	0	5205	1328	46	0	2374	0	EPHA2	1	16475080	In_Frame_Del	DEL	GCAGCAGCTCGGGGC	TCGA-D6-A6EN-01A-11D-A31L-08		16475080	232775541	1	72492											
GRHL3	57822	broad.mit.edu	37	chr1	24663185	24663185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctggaggccggctctgtGgacagctacctgttacccac	8	8	12	13	1	1	0	0	0	1	0	1	2	1	2	3	4	4	4	3	4	3	2	rs144195527		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:24663185G>A	ENST00000361548.4	+	4	710	c.480G>A	c.(478-480)gtG>gtA	p.V160V	GRHL3_ENST00000236255.4_Silent_p.V165V|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000342072.4_Silent_p.V67V|GRHL3_ENST00000350501.5_Silent_p.V160V|GRHL3_ENST00000356046.2_Silent_p.V114V	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	160			V -> A (in dbSNP:rs34637004).		regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCGGCTCTGTGGACAGCTACC	0.592													35	93					0	0	0	0	A	24663185	G	A	24663185	2	1	377	1	0	0	0	0	0	0	0	1	6815	1335	47	4		4	GRHL3	1	24663185	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	8188105	24663185	224587436	2	72493											
GJB3	2707	broad.mit.edu	37	chr1	35250780	35250780	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcctcatcttcaagctCatcattgagttcctcttcct	7	16	4	14	0	7	1	5	1	2	0	9	1	9	1	3	0	2	2	3	0	1	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:35250780C>T	ENST00000373366.2	+	2	1032	c.417C>T	c.(415-417)ctC>ctT	p.L139L	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Silent_p.L139L	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	139					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCTTCAAGCTCATCATTGAGT	0.587													25	81					0	0	0	0	T	35250780	C	T	35250780	2	4	377	1	0	0	0	0	0	0	0	1	6460	813	29	2		2	GJB3	1	35250780	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	10587595	35250780	213999841	3	72494											
CLCA4	22802	broad.mit.edu	37	chr1	87040331	87040331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcatcacatggaacagtCtgcctcccagtatttctctc	8	14	5	14	0	4	0	2	0	3	0	8	1	5	1	2	1	2	1	2	1	2	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:87040331C>G	ENST00000370563.3	+	10	1618	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	526						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATGGAACAGTCTGCCTCCCAG	0.423													13	49					0	0	0	0	G	87040331	C	G	87040331	3	3	377	1	0	0	0	0	1	0	0	0	3489	912	32	2	1614	2	CLCA4	1	87040331	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	51789551	87040331	162210290	4	72495											
SPAG17	200162	broad.mit.edu	37	chr1	118512703	118512703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggtttgtaagtcactttCagtcctgtgctgggtggggg	5	13	15	8	0	2	0	2	0	0	0	3	0	3	0	2	4	1	3	2	4	1	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:118512703C>T	ENST00000336338.5	-	46	6428	c.6363G>A	c.(6361-6363)ctG>ctA	p.L2121L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2121						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAGTCACTTTCAGTCCTGTGC	0.413													9	34					0	0	0	0	T	118512703	C	T	118512703	2	4	377	1	0	0	0	0	0	0	0	1	15069	813	29	2		2	SPAG17	1	118512703	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	31472372	118512703	130737918	5	72496											
APOA1BP	128240	broad.mit.edu	37	chr1	156562233	156562233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggggaataatggaggagAtggtctggtctgtgctcgac	8	9	16	8	2	2	1	0	0	2	1	3	5	2	3	1	6	1	1	1	6	2	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:156562233A>T	ENST00000368235.3	+	3	411	c.368A>T	c.(367-369)gAt>gTt	p.D123V	APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Missense_Mutation_p.D123V|APOA1BP_ENST00000368234.3_Missense_Mutation_p.D123V	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	123	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AATGGAGGAGATGGTCTGGTC	0.587													19	76					0	0	0	0	T	156562233	A	T	156562233	3	4	377	1	0	0	0	0	1	0	0	0	783	333	12	5	378	5	APOA1BP	1	156562233	Missense_Mutation	SNP	A	TCGA-D6-A6EN-01A-11D-A31L-08	38049530	156562233	92688388	6	72497											
NES	10763	broad.mit.edu	37	chr1	156639587	156639590	+	Frame_Shift_Del	DEL	CACT	CACT	-																															gtcatcccaggggacactgaCactcacagaatcagactcca																										TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:156639587_156639590delCACT	ENST00000368223.3	-	4	4522_4525	c.4390_4393delAGTG	c.(4390-4395)tcfs	p.SV1466fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1466	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGACACTGACACTCACAGAATCA	0.637													11	52	---	---	---	---					-	156639590	CACT	-	156639587	7	5	377	1	0	1	0	1	0	0	0	0	10407	478	17	0	476	0	NES	1	156639587	Frame_Shift_Del	DEL	CACT	TCGA-D6-A6EN-01A-11D-A31L-08	77354	156639587	92611034	7	72498											
PTPN14	5784	broad.mit.edu	37	chr1	214557391	214557391	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtcttcaccgagagctGcaccttccgggtcaccaggt	8	8	12	13	2	3	1	2	0	1	1	4	3	4	1	4	3	2	2	4	3	1	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:214557391G>A	ENST00000366956.5	-	13	2001	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	603					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			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)		ACCGAGAGCTGCACCTTCCGG	0.662													10	31					0	0	0	0	A	214557391	G	A	214557391	4	1	377	1	0	0	0	0	0	1	0	0	12863	1328	46	4	1784	4	PTPN14	1	214557391	Nonsense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	57917804	214557391	34693230	8	72499											
CENPF	1063	broad.mit.edu	37	chr1	214830486	214830486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctaaacaagattcccgagGgtctcctttgctaggtccag	10	11	9	11	1	2	1	0	0	2	1	5	2	4	1	3	2	2	1	3	2	4	4			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:214830486G>A	ENST00000366955.3	+	18	8864	c.8696G>A	c.(8695-8697)gGg>gAg	p.G2899E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2995	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GATTCCCGAGGGTCTCCTTTG	0.438													37	105					0	0	0	0	A	214830486	G	A	214830486	3	1	377	1	0	0	0	0	1	0	0	0	3260	1232	43	4	8762	4	CENPF	1	214830486	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	273095	214830486	34420135	9	72500											
TOMM20	9804	broad.mit.edu	37	chr1	235291945	235291945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgaagttggggtcacttCgtcttttgcggtcgaagtag	6	15	13	7	3	3	1	1	1	2	0	5	2	3	1	0	3	1	2	0	3	3	6			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:235291945C>T	ENST00000366607.4	-	1	306	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	29					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			GGGGTCACTTCGTCTTTTGCG	0.602													39	106					0	0	0	0	T	235291945	C	T	235291945	3	4	377	1	0	0	0	0	1	0	0	0	16448	884	31	1	371	1	TOMM20	1	235291945	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	20461459	235291945	13958676	10	72501											
ITSN2	50618	broad.mit.edu	37	chr2	24471560	24471560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattaatattaactgtcctgGtgcaaggctaagttgttcag	12	14	9	6	0	1	0	1	0	0	0	2	0	2	0	1	2	2	4	1	2	6	6			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:24471560G>A	ENST00000355123.4	-	27	3669	c.3226C>T	c.(3226-3228)Cca>Tca	p.P1076S	ITSN2_ENST00000361999.3_Missense_Mutation_p.P1049S|ITSN2_ENST00000406921.3_Missense_Mutation_p.P1076S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1076	SH3 4.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGTCCTGGTGCAAGGCTA	0.338													3	18					0	0	0	0	A	24471560	G	A	24471560	3	1	377	1	0	0	0	0	1	0	0	0	7980	1261	44	4	1974	4	ITSN2	2	24471560	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08		24471560	218727813	11	72502											
SLC4A5	57835	broad.mit.edu	37	chr2	74459765	74459765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggtccagatggtagcCggcagccttctgcaggagcg	9	6	15	11	2	1	1	0	0	1	1	2	3	2	2	3	4	5	3	3	4	2	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:74459765C>T	ENST00000394019.2	-	24	3002	c.2605G>A	c.(2605-2607)Ggc>Agc	p.G869S	SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G869S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G869S|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G767S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G767S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G869S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G869S|SLC4A5_ENST00000483195.1_Intron	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	869						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGATGGTAGCCGGCAGCCTTC	0.602													6	35					0	0	0	0	T	74459765	C	T	74459765	3	4	377	1	0	0	0	0	1	0	0	0	14745	652	23	1	840	1	SLC4A5	2	74459765	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	49988205	74459765	168739608	12	72503											
NCKAP5	344148	broad.mit.edu	37	chr2	133542417	133542417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagtcctttttacaactCtttgctgcttaatgaaacta	13	15	5	8	0	1	2	0	1	1	1	2	2	2	2	1	0	5	2	1	0	7	6			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:133542417C>T	ENST00000409261.1	-	14	2340	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R656K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	656							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTTACAACTCTTTGCTGCTT	0.438													18	35					0	0	0	0	T	133542417	C	T	133542417	3	4	377	1	0	0	0	0	1	0	0	0	10293	913	32	2	3790	2	NCKAP5	2	133542417	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	59082652	133542417	109656956	13	72504											
NCKAP5	344148	broad.mit.edu	37	chr2	133543010	133543010	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggggttccttgcaggggctCcccaggtcagctgttttgca	4	12	14	11	0	1	0	1	0	0	0	3	0	3	0	3	5	3	6	3	5	0	4			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:133543010C>G	ENST00000409261.1	-	14	1747	c.1374G>C	c.(1372-1374)ggG>ggC	p.G458G	NCKAP5_ENST00000317721.6_Silent_p.G458G|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	458							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAGGGGCTCCCCAGGTCAG	0.468													14	11					0	0	0	0	G	133543010	C	G	133543010	2	3	377	1	0	0	0	0	0	0	0	1	10293	842	30	2		2	NCKAP5	2	133543010	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	593	133543010	109656363	14	72505											
NEB	4703	broad.mit.edu	37	chr2	152518695	152518695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccaaaaccatgttcatcGagtccatgagtgtggaatac	12	9	11	9	1	1	1	1	1	0	0	3	3	2	2	3	2	2	1	3	2	4	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:152518695G>A	ENST00000427231.2	-	46	6126	c.5924C>T	c.(5923-5925)tCg>tTg	p.S1975L	NEB_ENST00000397345.3_Missense_Mutation_p.S1975L|NEB_ENST00000603639.1_Missense_Mutation_p.S1975L|NEB_ENST00000409198.1_Missense_Mutation_p.S1975L|NEB_ENST00000604864.1_Missense_Mutation_p.S1975L|NEB_ENST00000172853.10_Missense_Mutation_p.S1975L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1975					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATGTTCATCGAGTCCATGAG	0.398													15	30					0	0	0	0	A	152518695	G	A	152518695	3	1	377	1	0	0	0	0	1	0	0	0	10372	1059	37	1	20310	1	NEB	2	152518695	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	18975685	152518695	90680678	15	72506											
SLC39A10	57181	broad.mit.edu	37	chr2	196545452	196545452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatctgatgttaaactacCgaaaggaaagaggaagaaaa	21	6	9	5	1	1	3	0	1	1	2	1	6	1	5	1	2	2	1	1	2	9	2	rs139926734	by1000genomes	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:196545452C>T	ENST00000409086.3	+	2	961	c.686C>T	c.(685-687)cCg>cTg	p.P229L	SLC39A10_ENST00000359634.5_Missense_Mutation_p.P229L|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	229					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTTAAACTACCGAAAGGAAAG	0.413													9	35					0	0	0	0	T	196545452	C	T	196545452	3	4	377	1	0	0	0	0	1	0	0	0	14701	652	23	1	688	1	SLC39A10	2	196545452	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	44026757	196545452	46653921	16	72507											
BOLL	66037	broad.mit.edu	37	chr2	198646521	198646521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggcacttgttgggttattCaaaggcacaggtgacacagg	10	9	15	7	0	1	1	1	1	0	0	1	1	1	1	0	6	0	4	0	6	2	4			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:198646521C>T	ENST00000321801.7	-	2	660	c.90G>A	c.(88-90)ttG>ttA	p.L30L	BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000430004.1_Silent_p.L18L|BOLL_ENST00000433157.1_Silent_p.L18L|BOLL_ENST00000392296.4_Silent_p.L18L	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	18					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TTGGGTTATTCAAAGGCACAG	0.378													26	111					0	0	0	0	T	198646521	C	T	198646521	2	4	377	1	0	0	0	0	0	0	0	1	1494	825	29	2		2	BOLL	2	198646521	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	2101069	198646521	44552852	17	72508											
CASP8	841	broad.mit.edu	37	chr2	202131229	202131229	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggacttcagcagaaatcTttatgatattggggaacaac	14	11	10	6	0	2	2	1	1	1	1	2	5	2	4	0	3	3	1	0	3	5	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:202131229T>G	ENST00000358485.4	+	2	393	c.197T>G	c.(196-198)cTt>cGt	p.L66R	CASP8_ENST00000392258.3_Missense_Mutation_p.L7R|CASP8_ENST00000392259.2_Missense_Mutation_p.L7R|CASP8_ENST00000264274.9_Missense_Mutation_p.L7R|CASP8_ENST00000432109.2_Missense_Mutation_p.L7R|CASP8_ENST00000392266.3_Missense_Mutation_p.L7R|CASP8_ENST00000264275.5_Missense_Mutation_p.L7R|CASP8_ENST00000323492.7_Missense_Mutation_p.L7R	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	7	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGCAGAAATCTTTATGATATT	0.408										HNSCC(4;0.00038)			19	48					0	0	0	0	G	202131229	T	G	202131229	3	3	377	1	0	0	0	0	1	0	0	0	2702	1609	56	5	203	5	CASP8	2	202131229	Missense_Mutation	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	3484708	202131229	41068144	18	72509											
TRIP12	9320	broad.mit.edu	37	chr2	230643687	230643687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcataaaactccagtgtaGgcccaagacctgtaccaacc	13	6	8	14	1	0	1	0	0	0	1	1	1	1	1	5	1	3	3	5	1	6	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:230643687G>T	ENST00000283943.5	-	34	5067	c.4889C>A	c.(4888-4890)cCt>cAt	p.P1630H	TRIP12_ENST00000389045.3_Missense_Mutation_p.P1360H|TRIP12_ENST00000389044.4_Missense_Mutation_p.P1678H	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1630					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		CTCCAGTGTAGGCCCAAGACC	0.408													25	90					3.28513e-13	3.63621e-13	1	0	T	230643687	G	T	230643687	3	4	377	1	0	0	0	0	1	0	0	0	16651	1000	35	4	1121	4	TRIP12	2	230643687	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	28512458	230643687	12555686	19	72510											
IQCA1	79781	broad.mit.edu	37	chr2	237374200	237374200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaaggttctccttgatatCcacgccttctatcaacttta	9	16	5	11	1	3	2	1	2	2	0	5	2	4	2	3	1	1	1	3	1	5	8			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:237374200C>A	ENST00000409907.3	-	6	1148	c.874G>T	c.(874-876)Gat>Tat	p.D292Y	IQCA1_ENST00000309507.5_Missense_Mutation_p.D288Y|IQCA1_ENST00000431676.2_Missense_Mutation_p.D292Y			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	292							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCTTGATATCCACGCCTTCT	0.483													3	25					0.00024832	0.000259039	1	0	A	237374200	C	A	237374200	3	1	377	1	0	0	0	0	1	0	0	0	7855	855	30	2	1650	2	IQCA1	2	237374200	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	6730513	237374200	5825173	20	72511											
NEK10	152110	broad.mit.edu	37	chr3	27157603	27157603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattccttcctccaattcaAtgctggttggtaaacctaaa	11	15	5	10	0	1	0	1	0	0	0	4	0	4	0	4	2	2	3	4	2	7	7	rs111622636		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:27157603A>G	ENST00000429845.2	-	37	3739	c.3377T>C	c.(3376-3378)aTt>aCt	p.I1126T	NEK10_ENST00000295720.6_Missense_Mutation_p.I438T|NEK10_ENST00000383771.4_Missense_Mutation_p.I428T|NEK10_ENST00000383770.3_Missense_Mutation_p.I381T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1126							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCAATTCAATGCTGGTTGG	0.333													7	25					0	0	0	0	G	27157603	A	G	27157603	3	3	377	1	0	0	0	0	1	0	0	0	10392	116	4	5		5	NEK10	3	27157603	Missense_Mutation	SNP	A	TCGA-D6-A6EN-01A-11D-A31L-08		27157603	170864827	21	72512											
STAB1	23166	broad.mit.edu	37	chr3	52555493	52555494	+	Frame_Shift_Del	DEL	TG	TG	-																															ctgggacagcctgtgaactcTgtgctcctggtgcctttggg																										TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:52555493_52555494delTG	ENST00000321725.6	+	56	6101_6102	c.6025_6026delTG	c.(6025-6027)tfs	p.C2009fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2009	Laminin EGF-like 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGTGAACTCTGTGCTCCTGGT	0.604													22	59	---	---	---	---					-	52555494	TG	-	52555493	7	5	377	1	0	1	0	1	0	0	0	0	15327	1580	55	0	6247	0	STAB1	3	52555493	Frame_Shift_Del	DEL	TG	TCGA-D6-A6EN-01A-11D-A31L-08	25397890	52555493	145466937	22	72513											
TMEM110	375346	broad.mit.edu	37	chr3	52878919	52878919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgatcacgatgtaaagagCgcactgcccgacccaggctc	11	6	10	14	3	1	2	1	1	0	1	2	4	1	2	2	1	2	3	2	1	2	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:52878919C>A	ENST00000355083.5	-	5	611	c.466G>T	c.(466-468)Gct>Tct	p.A156S	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.A156S	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ATGTAAAGAGCGCACTGCCCG	0.537													13	65					0.00244969	0.00250145	1	0	A	52878919	C	A	52878919	3	1	377	1	0	0	0	0	1	0	0	0	16121	768	27	3	434	3	TMEM110	3	52878919	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	323426	52878919	145143511	23	72514											
KBTBD12	166348	broad.mit.edu	37	chr3	127682161	127682161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcccctcctctcactccGcaccaattccaccaatgcag	10	8	4	19	1	1	0	1	0	1	0	6	0	5	0	7	0	1	2	7	0	3	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:127682161G>A	ENST00000405109.1	+	5	2089	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	KBTBD12_ENST00000407609.3_Missense_Mutation_p.R148H|KBTBD12_ENST00000343941.4_Missense_Mutation_p.R116H|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.R541H			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	541										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCTCACTCCGCACCAATTCC	0.542													8	12					0	0	0	0	A	127682161	G	A	127682161	3	1	377	1	0	0	0	0	1	0	0	0	8044	1087	38	1	1636	1	KBTBD12	3	127682161	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	74803242	127682161	70340269	24	72515											
MAP3K13	9175	broad.mit.edu	37	chr3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagccatagtgactttgccGcaatcttgaaaaaccagcca	13	8	8	12	1	1	2	0	2	1	0	1	2	1	2	4	0	4	2	4	0	4	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	604					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507													5	388					0	0	0	0	A	185190929	G	A	185190929	3	1	377	1	0	0	0	0	1	0	0	0	9316	1087	38	1	1848	1	MAP3K13	3	185190929	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	57508768	185190929	12831501	25	72516											
TNK2	10188	broad.mit.edu	37	chr3	195599248	195599248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgatgtcctgggcCgacaggccggccacggaggt	5	6	18	12	3	0	1	0	1	0	0	1	3	1	2	4	7	0	2	4	7	0	0	rs112025939		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:195599248C>T	ENST00000333602.6	-	10	1967	c.1350G>A	c.(1348-1350)tcG>tcA	p.S450S	TNK2_ENST00000392400.1_Silent_p.S450S|TNK2_ENST00000381916.2_Silent_p.S513S|TNK2_ENST00000316664.3_Silent_p.S450S|TNK2_ENST00000428187.1_Silent_p.S482S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	450				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGTCCTGGGCCGACAGGCCGG	0.672													16	53					0	0	0	0	T	195599248	C	T	195599248	2	4	377	1	0	0	0	0	0	0	0	1	16412	639	23	1		1	TNK2	3	195599248	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	10408319	195599248	2423182	26	72517											
FAM53A	152877	broad.mit.edu	37	chr4	1657255	1657255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcggtggggccgtggacGagcctgtgctttcactgggg	3	10	19	9	3	1	0	1	0	0	0	2	2	1	1	2	7	2	1	2	7	0	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:1657255G>A	ENST00000308132.6	-	4	524	c.332C>T	c.(331-333)tCg>tTg	p.S111L	FAM53A_ENST00000489363.1_Missense_Mutation_p.S111L|FAM53A_ENST00000461064.1_Missense_Mutation_p.S111L|FAM53A_ENST00000472884.2_Missense_Mutation_p.S111L	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	111						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGCCGTGGACGAGCCTGTGCT	0.701													5	9					0	0	0	0	A	1657255	G	A	1657255	3	1	377	1	0	0	0	0	1	0	0	0	5626	1059	37	1	872	1	FAM53A	4	1657255	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08		1657255	189497021	27	72518											
PHOX2B	8929	broad.mit.edu	37	chr4	41749390	41749390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcgcgcctctgtgaggtcGatcttcagggccagctcctc	5	10	11	15	3	3	1	1	1	2	0	7	2	4	1	3	2	1	1	3	2	0	1	rs147497096		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:41749390G>A	ENST00000226382.2	-	2	764	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	135					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGTGAGGTCGATCTTCAGGG	0.647			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				20	46					0	0	0	0	A	41749390	G	A	41749390	2	1	377	1	0	0	0	0	0	0	0	1	11931	1048	37	1		1	PHOX2B	4	41749390	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	40092135	41749390	149404886	28	72519											
CLOCK	9575	broad.mit.edu	37	chr4	56301652	56301652	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagttgctgctgttgcTgagactgatgttgctggtga	5	14	16	6	0	0	4	0	4	0	1	0	5	0	4	0	2	4	8	0	2	0	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:56301652T>A	ENST00000309964.4	-	22	2721	c.2471A>T	c.(2470-2472)cAg>cTg	p.Q824L	CLOCK_ENST00000381322.1_Missense_Mutation_p.Q824L|CLOCK_ENST00000513440.1_Missense_Mutation_p.Q824L	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	824	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CTGCTGTTGCTGAGACTGATG	0.527													4	102					0	0	0	0	A	56301652	T	A	56301652	3	1	377	1	0	0	0	0	1	0	0	0	3579	1580	55	5	73	5	CLOCK	4	56301652	Missense_Mutation	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	14552262	56301652	134852624	29	72520											
PROL1	58503	broad.mit.edu	37	chr4	71275591	71275591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcctcaacagtacctatCtcttcaacaccagagcctgc	11	9	5	16	0	3	1	2	0	1	1	5	1	4	1	4	0	6	2	4	0	4	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:71275591C>T	ENST00000399575.2	+	3	720	c.546C>T	c.(544-546)atC>atT	p.I182I	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	182	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CAGTACCTATCTCTTCAACAC	0.498													27	69					0	0	0	0	T	71275591	C	T	71275591	2	4	377	1	0	0	0	0	0	0	0	1	12634	903	32	2		2	PROL1	4	71275591	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	14973939	71275591	119878685	30	72521											
AFM	173	broad.mit.edu	37	chr4	74357800	74357800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacccagacaccttctttgCgaagtaatataactctttat	12	14	5	10	1	2	2	0	1	2	1	2	3	2	2	2	0	2	1	2	0	5	7	rs151113361	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:74357800C>G	ENST00000226355.3	+	8	1148	c.1055C>G	c.(1054-1056)gCg>gGg	p.A352G		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	352	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTTCTTTGCGAAGTAATAT	0.343													8	48					0	0	0	0	G	74357800	C	G	74357800	3	3	377	1	0	0	0	0	1	0	0	0	361	768	27	3	1085	3	AFM	4	74357800	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	3082209	74357800	116796476	31	72522											
IRF2	3660	broad.mit.edu	37	chr4	185310172	185310172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgagtccccatgttgcTgaggtactgtttgccttcaa	6	13	10	12	1	1	1	1	1	0	0	3	2	2	1	4	1	3	4	4	1	2	4			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:185310172T>C	ENST00000393593.3	-	9	997	c.790A>G	c.(790-792)Agc>Ggc	p.S264G		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	264					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCCATGTTGCTGAGGTACTGT	0.512													34	155					0	0	0	0	C	185310172	T	C	185310172	3	2	377	1	0	0	0	0	1	0	0	0	7881	1580	55	5	263	5	IRF2	4	185310172	Missense_Mutation	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	110952372	185310172	5844104	32	72523											
FAT1	2195	broad.mit.edu	37	chr4	187521451	187521451	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcattgacctgaatgctctGaacagagacaattccagggc	13	9	9	10	0	2	4	1	3	1	1	3	5	3	4	2	1	2	1	2	1	3	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:187521451G>A	ENST00000441802.2	-	22	11913	c.11704C>T	c.(11704-11706)Cag>Tag	p.Q3902*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3902	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAATGCTCTGAACAGAGACA	0.473										HNSCC(5;0.00058)			5	11					0	0	0	0	A	187521451	G	A	187521451	4	1	377	1	0	0	0	0	0	1	0	0	5734	1299	45	2	2086	2	FAT1	4	187521451	Nonsense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	2211279	187521451	3632825	33	72524											
CDH10	1008	broad.mit.edu	37	chr5	24491935	24491935	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaagattctggcagtattAtctaaaacaaattttaaaat	17	15	5	4	0	2	1	0	0	2	1	2	1	2	1	0	1	1	3	0	1	8	7			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:24491935A>G	ENST00000264463.4	-	11	2133	c.1624_splice	c.e11-1	p.D542_splice	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	542	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGGCAGTATTATCTAAAACAA	0.289										HNSCC(23;0.051)			5	15					0	0	0	0	G	24491935	A	G	24491935	5	3	377	1	0	0	0	0	0	0	1	0	3125	463	16	5	748	5	CDH10	5	24491935	Splice_Site	SNP	A	TCGA-D6-A6EN-01A-11D-A31L-08		24491935	156423325	34	72525											
PDZD2	23037	broad.mit.edu	37	chr5	31983414	31983414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctgggtgaccgaactgcGaaaaaggggaaacgaaccag	15	3	15	8	3	0	1	0	1	0	0	0	6	0	2	2	3	5	1	2	3	5	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:31983414G>A	ENST00000438447.1	+	3	1018	c.630G>A	c.(628-630)gcG>gcA	p.A210A	PDZD2_ENST00000282493.3_Silent_p.A210A			O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCGAACTGCGAAAAAGGGGA	0.537													25	57					0	0	0	0	A	31983414	G	A	31983414	2	1	377	1	0	0	0	0	0	0	0	1	11772	1045	37	1		1	PDZD2	5	31983414	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	7491479	31983414	148931846	35	72526											
C6	729	broad.mit.edu	37	chr5	41158815	41158815	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggaactggctgaggacaCccggaatctgcttctatctc	9	9	12	11	1	3	1	0	1	3	0	4	5	3	5	1	5	2	2	1	5	3	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:41158815C>A	ENST00000263413.3	-	13	2193	c.1929G>T	c.(1927-1929)ggG>ggT	p.G643G	C6_ENST00000337836.5_Silent_p.G643G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	643	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTGAGGACACCCGGAATCTG	0.403													7	36					0.00307968	0.00312275	1	0	A	41158815	C	A	41158815	2	1	377	1	0	0	0	0	0	0	0	1	2336	494	18	4		4	C6	5	41158815	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	9175401	41158815	139756445	36	72527											
C5orf34	375444	broad.mit.edu	37	chr5	43506488	43506488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacttctgttatgtcaatGaagatatgctgcaaggagag	12	12	10	7	0	3	3	2	1	1	2	3	4	3	3	0	1	2	3	0	1	5	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:43506488G>A	ENST00000306862.2	-	4	669	c.294C>T	c.(292-294)ttC>ttT	p.F98F	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	98										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTATGTCAATGAAGATATGCT	0.368													10	16					0	0	0	0	A	43506488	G	A	43506488	2	1	377	1	0	0	0	0	0	0	0	1	2314	1281	45	2		2	C5orf34	5	43506488	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	2347673	43506488	137408772	37	72528											
COL4A3BP	10087	broad.mit.edu	37	chr5	74695169	74695169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacatcatcagaggcaCtgactagatcaatggaagac	15	8	10	8	0	3	5	3	2	0	3	3	6	3	6	0	2	1	1	0	2	4	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:74695169C>T	ENST00000380494.5	-	12	1831	c.1538G>A	c.(1537-1539)aGt>aAt	p.S513N	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S385N|COL4A3BP_ENST00000261415.7_Intron	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	385	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCAGAGGCACTGACTAGATC	0.438													9	31					0	0	0	0	T	74695169	C	T	74695169	3	4	377	1	0	0	0	0	1	0	0	0	3722	565	20	4	748	4	COL4A3BP	5	74695169	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	31188681	74695169	106220091	38	72529											
MCC	4163	broad.mit.edu	37	chr5	112379227	112379227	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggaaagggtgcttacCgacgaatggcgttggtgaac	9	8	18	6	3	0	1	0	1	0	0	0	4	0	2	1	6	3	2	1	6	4	2	rs149948216		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:112379227C>T	ENST00000302475.4	-	15	2749	c.2186_splice	c.e15+1	p.R729_splice	MCC_ENST00000515367.2_Splice_Site_p.R666_splice|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Splice_Site_p.R919_splice	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	729					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGGTGCTTACCGACGAATGGC	0.562											OREG0016728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	16					0	0	0	0	T	112379227	C	T	112379227	5	4	377	1	0	0	0	0	0	0	1	0	9442	666	23	1	315	1	MCC	5	112379227	Splice_Site	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	37684058	112379227	68536033	39	72530											
ZNF608	57507	broad.mit.edu	37	chr5	123984545	123984545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgtcctcagagctggagTtcaggtccagctccattgga	8	12	11	10	0	2	1	2	0	0	1	5	3	5	3	3	3	2	3	3	3	1	4			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:123984545T>C	ENST00000306315.5	-	4	1967	c.1532A>G	c.(1531-1533)aAc>aGc	p.N511S	ZNF608_ENST00000504926.1_Missense_Mutation_p.N84S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	511						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGAGCTGGAGTTCAGGTCCAG	0.512													19	54					0	0	0	0	C	123984545	T	C	123984545	3	2	377	1	0	0	0	0	1	0	0	0	18129	1725	60	5	3030	5	ZNF608	5	123984545	Missense_Mutation	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	11605318	123984545	56930715	40	72531											
PCDHA11	56138	broad.mit.edu	37	chr5	140250635	140250635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccgacttctagtactGgtgaaggatcacggtgagcc	9	8	12	12	3	2	2	1	2	1	0	2	4	2	3	3	3	2	1	3	3	3	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:140250635G>A	ENST00000398640.2	+	1	1947	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAGTACTGGTGAAGGATC	0.667													26	63					0	0	0	0	A	140250635	G	A	140250635	2	1	377	1	0	0	0	0	0	0	0	1	11592	1335	47	4		4	PCDHA11	5	140250635	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	16266090	140250635	40664625	41	72532											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799002	140799002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgaccacgagcagctgCgcaccttcgagctcacgctg	7	7	10	17	5	1	0	1	0	0	0	3	3	1	0	3	0	4	5	3	0	0	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:140799002C>A	ENST00000398594.2	+	1	1576	c.1576C>A	c.(1576-1578)Cgc>Agc	p.R526S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCAGCTGCGCACCTTCGA	0.692													18	54					4.96729e-08	5.41547e-08	1	0	A	140799002	C	A	140799002	3	1	377	1	0	0	0	0	1	0	0	0	11639	768	27	3	1578	3	PCDHGB7	5	140799002	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	548367	140799002	40116258	42	72533											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812097	140812097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggctacctggtgaccaagGtggtggcggtggacagagac	8	6	17	10	2	0	2	0	1	0	1	0	4	0	3	3	7	1	1	3	7	2	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:140812097G>A	ENST00000252085.3	+	1	1913	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCAAGGTGGTGGCGGT	0.687													50	117					0	0	0	0	A	140812097	G	A	140812097	3	1	377	1	0	0	0	0	1	0	0	0	11624	1261	44	4	1773	4	PCDHGA12	5	140812097	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	13095	140812097	40103163	43	72534											
ARAP3	64411	broad.mit.edu	37	chr5	141035785	141035785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggctttaacttcttgCggattcccaggtagaccttg	6	14	12	9	1	1	1	0	0	1	1	2	2	2	2	2	4	2	2	2	4	2	8			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:141035785C>T	ENST00000239440.4	-	28	3913	c.3848G>A	c.(3847-3849)cGc>cAc	p.R1283H	ARAP3_ENST00000508305.1_Missense_Mutation_p.R1114H|ARAP3_ENST00000513878.1_Missense_Mutation_p.R945H|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1283	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TAACTTCTTGCGGATTCCCAG	0.557													4	116					0	0	0	0	T	141035785	C	T	141035785	3	4	377	1	0	0	0	0	1	0	0	0	842	768	27	1	810	1	ARAP3	5	141035785	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	223688	141035785	39879475	44	72535											
RMND5B	64777	broad.mit.edu	37	chr5	177569714	177569714	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgtatcccgagtgggCaaagccattgacagggtgag	11	7	15	8	1	0	2	0	2	0	0	1	3	1	2	2	2	2	3	2	2	2	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:177569714C>A	ENST00000515098.1	+	5	621	c.270C>A	c.(268-270)ggC>ggA	p.G90G	RMND5B_ENST00000542098.1_Silent_p.G77G|RMND5B_ENST00000313386.4_Silent_p.G90G			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	90										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGAGTGGGCAAAGCCATTG	0.567													20	67					1.40151e-16	1.60015e-16	1	0	A	177569714	C	A	177569714	2	1	377	1	0	0	0	0	0	0	0	1	13483	697	25	4		4	RMND5B	5	177569714	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	36533929	177569714	3345546	45	72536											
IRF4	3662	broad.mit.edu	37	chr6	407546	407546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatttaccagaacacatcaGcaatccagaagattaccaca	17	7	5	12	1	1	3	1	0	0	3	2	4	2	3	3	0	4	1	3	0	5	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:407546G>A	ENST00000380956.4	+	9	1430	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	435					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAACACATCAGCAATCCAGAA	0.353			T	IGH@	MM								13	44					0	0	0	0	A	407546	G	A	407546	3	1	377	1	0	0	0	0	1	0	0	0	7885	971	34	4	1334	4	IRF4	6	407546	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08		407546	170707521	46	72537											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031885	26031885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgactttacatttacgctCtttctccgcgaatgcggcga	8	13	9	11	5	2	1	0	1	2	0	3	3	2	1	1	1	3	1	1	1	3	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:26031885C>T	ENST00000244661.2	-	1	403	c.404G>A	c.(403-405)aGa>aAa	p.R135K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATTTACGCTCTTTCTCCGCG	0.453													25	56					0	0	0	0	T	26031885	C	T	26031885	3	4	377	1	0	0	0	0	1	0	0	0	7206	913	32	2	10	2	HIST1H3B	6	26031885	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	25624339	26031885	145083182	47	72538											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217341	26217341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccgaacgagtcggggccGgcgctccagtgtacctggca	7	6	14	14	5	0	0	0	0	0	0	3	2	2	0	4	4	2	3	4	4	2	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:26217341G>A	ENST00000303910.2	+	1	177	c.139G>A	c.(139-141)Ggc>Agc	p.G47S		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	47					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGTCGGGGCCGGCGCTCCAGT	0.587													15	45					0	0	0	0	A	26217341	G	A	26217341	3	1	377	1	0	0	0	0	1	0	0	0	7182	1116	39	1	141	1	HIST1H2AE	6	26217341	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	185456	26217341	144897726	48	72539											
TNXB	7148	broad.mit.edu	37	chr6	32024589	32024589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagggagtcaggggtGgcatctgtcatggtcagctc	7	9	17	8	0	4	1	3	1	1	0	5	2	4	2	0	6	1	3	0	6	0	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:32024589G>A	ENST00000375244.3	-	23	8118	c.7917C>T	c.(7915-7917)gcC>gcT	p.A2639A	TNXB_ENST00000375247.2_Silent_p.A2639A			P22105	TENX_HUMAN	tenascin XB	2699	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTCAGGGGTGGCATCTGTCA	0.632													25	70					0	0	0	0	A	32024589	G	A	32024589	2	1	377	1	0	0	0	0	0	0	0	1	16440	1335	47	4		4	TNXB	6	32024589	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	5807248	32024589	139090478	49	72540											
TTBK1	84630	broad.mit.edu	37	chr6	43222821	43222821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtttcgaggaacggttcGctatgcctcagtcaatgccc	7	10	12	12	4	2	0	2	0	0	0	4	2	2	1	2	3	3	3	2	3	3	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:43222821G>A	ENST00000259750.4	+	7	694	c.611G>A	c.(610-612)cGc>cAc	p.R204H	TTBK1_ENST00000304139.5_Missense_Mutation_p.R153H	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	204	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGAACGGTTCGCTATGCCTCA	0.617													12	38					0	0	0	0	A	43222821	G	A	43222821	3	1	377	1	0	0	0	0	1	0	0	0	16772	1087	38	1	633	1	TTBK1	6	43222821	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	11198232	43222821	127892246	50	72541											
GRM1	2911	broad.mit.edu	37	chr6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctttgaccgactcttgcGcaaactccgagagaggcttc	9	9	11	12	3	1	2	0	1	1	1	3	6	2	2	2	1	3	3	2	1	1	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:146480607G>A	ENST00000392299.2	+	3	1294	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGACTCTTGCGCAAACTCCGA	0.577													3	43					0	0	0	0	A	146480607	G	A	146480607	3	1	377	1	0	0	0	0	1	0	0	0	6846	1087	38	1	830	1	GRM1	6	146480607	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	103257786	146480607	24634460	51	72542											
SNX13	23161	broad.mit.edu	37	chr7	17833690	17833690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttttctgcaaagaaggCgcttgagtagtttgaagttt	10	14	10	7	1	1	3	0	2	1	1	1	3	1	3	1	1	1	5	1	1	4	6			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:17833690C>T	ENST00000428135.3	-	26	3051	c.2853G>A	c.(2851-2853)gcG>gcA	p.A951A	SNX13_ENST00000409389.1_3'UTR|SNX13_ENST00000496855.1_5'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	962					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			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)					GCAAAGAAGGCGCTTGAGTAG	0.398													6	16					0	0	0	0	T	17833690	C	T	17833690	2	4	377	1	0	0	0	0	0	0	0	1	14972	755	27	1		1	SNX13	7	17833690	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		17833690	141304973	52	72543											
POU6F2	11281	broad.mit.edu	37	chr7	39500196	39500196	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttaatctggaggagatcCgagaatttgccaaagctttt	11	12	12	6	1	1	2	0	0	1	2	2	5	2	3	2	3	2	2	2	3	3	4	rs145241880		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:39500196C>T	ENST00000518318.2	+	9	1495	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	POU6F2_ENST00000559001.1_Nonsense_Mutation_p.R430*|POU6F2_ENST00000403058.1_Nonsense_Mutation_p.R485*			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	485	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAGGAGATCCGAGAATTTGC	0.532													6	17					0	0	0	0	T	39500196	C	T	39500196	4	4	377	1	0	0	0	0	0	1	0	0	12356	644	23	1	1487	1	POU6F2	7	39500196	Nonsense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	21666506	39500196	119638467	53	72544											
COL1A2	1278	broad.mit.edu	37	chr7	94057708	94057708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgggcccaacctgaaaaCatcccagccaagaactggta	14	5	8	14	1	0	2	0	1	0	1	2	2	2	2	5	2	4	1	5	2	6	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:94057708C>A	ENST00000297268.6	+	50	4101	c.3630C>A	c.(3628-3630)aaC>aaA	p.N1210K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1210	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AACCTGAAAACATCCCAGCCA	0.478										HNSCC(75;0.22)			26	46					1.66031e-10	1.82382e-10	1	0	A	94057708	C	A	94057708	3	1	377	1	0	0	0	0	1	0	0	0	3708	477	17	4	3828	4	COL1A2	7	94057708	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	54557512	94057708	65080955	54	72545											
LRWD1	222229	broad.mit.edu	37	chr7	102106340	102106340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgcagctgcaggagcttGacctgtctaacaaccacctg	10	8	10	13	1	1	2	0	2	1	0	1	3	1	3	3	1	5	4	3	1	2	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:102106340G>T	ENST00000292616.5	+	2	309	c.157G>T	c.(157-159)Gac>Tac	p.D53Y		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	53					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCAGGAGCTTGACCTGTCTAA	0.622													13	49					4.3838e-07	4.74367e-07	1	0	T	102106340	G	T	102106340	3	4	377	1	0	0	0	0	1	0	0	0	9111	1290	45	2	163	2	LRWD1	7	102106340	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	8048632	102106340	57032323	55	72546											
BRAF	673	broad.mit.edu	37	chr7	140481411	140481411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtagactgttccaaatgatCcagatccaattctttgtccc	10	14	6	11	0	1	3	0	1	1	2	5	3	5	3	4	0	0	2	4	0	3	4			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:140481411C>T	ENST00000288602.6	-	11	1457	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	84					0	0	0	0	T	140481411	C	T	140481411	3	4	377	1	0	0	0	0	1	0	0	0	1504	855	30	2	935	2	BRAF	7	140481411	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	38375071	140481411	18657252	56	72547											
EPHB6	2051	broad.mit.edu	37	chr7	142562010	142562010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctggcacctcaaacGctggaccaaggtggacacaa	11	7	9	14	1	1	0	1	0	0	0	3	2	3	2	4	4	1	2	4	4	3	1	rs145358081	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:142562010G>A	ENST00000392957.2	+	7	1239	c.452G>A	c.(451-453)cGc>cAc	p.R151H	EPHB6_ENST00000442129.1_Missense_Mutation_p.R151H|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	151						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CACCTCAAACGCTGGACCAAG	0.627													27	67					0	0	0	0	A	142562010	G	A	142562010	3	1	377	1	0	0	0	0	1	0	0	0	5216	1087	38	1	462	1	EPHB6	7	142562010	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	2080599	142562010	16576653	57	72548											
SSPO	23145	broad.mit.edu	37	chr7	149526874	149526874	+	RNA	DEL	C	C	-																															tcagtcccctcctcctgtgtCccccccacagtcccctcagt																										TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:149526874delC	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			cctcctgtgtcccccccacag	0.657													2	4	---	---	---	---					-	149526874	C	-	149526874	6	5	377	0	1	1	0	1	0	0	0	0	15279	870	30	0		0	SSPO	7	149526874	RNA	DEL	C	TCGA-D6-A6EN-01A-11D-A31L-08	6964864	149526874	9611789	58	72549											
TEX15	56154	broad.mit.edu	37	chr8	30695298	30695298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaagcagcacaatctttCttatcactttttgtttcagc	11	15	5	10	0	4	0	2	0	2	0	4	0	4	0	0	0	3	4	0	0	4	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr8:30695298C>T	ENST00000256246.2	-	3	7427	c.7353G>A	c.(7351-7353)aaG>aaA	p.K2451K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2451										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CACAATCTTTCTTATCACTTT	0.358													30	116					0	0	0	0	T	30695298	C	T	30695298	2	4	377	1	0	0	0	0	0	0	0	1	15873	912	32	2		2	TEX15	8	30695298	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		30695298	115668724	59	72550											
DNAJC5B	85479	broad.mit.edu	37	chr8	66992739	66992739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaagaggacttctatgtgtCcccagaggatctggaggagc	11	8	14	8	0	2	3	0	0	2	3	3	7	3	7	2	4	1	0	2	4	2	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr8:66992739C>T	ENST00000276570.5	+	5	748	c.461C>T	c.(460-462)tCc>tTc	p.S154F	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	154					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TTCTATGTGTCCCCAGAGGAT	0.552													7	15					0	0	0	0	T	66992739	C	T	66992739	3	4	377	1	0	0	0	0	1	0	0	0	4687	855	30	2	471	2	DNAJC5B	8	66992739	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	36297441	66992739	79371283	60	72551											
LACTB2	51110	broad.mit.edu	37	chr8	71570088	71570088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctctgaggattccGtgggagttttttaatgcaat	7	18	9	7	1	3	1	0	1	3	0	5	3	4	3	1	2	1	2	1	2	2	6			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr8:71570088G>A	ENST00000276590.4	-	3	352	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.R106W	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	106							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGAGGATTCCGTGGGAGTTTT	0.323													23	22					0	0	0	0	A	71570088	G	A	71570088	3	1	377	1	0	0	0	0	1	0	0	0	8651	1144	40	1	570	1	LACTB2	8	71570088	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	4577349	71570088	74793934	61	72552											
KIAA1429	25962	broad.mit.edu	37	chr8	95504027	95504027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttctgttttctctgaCgaaaaatatcatgaggtcgt	9	17	9	6	2	3	2	1	2	2	0	5	3	3	2	0	1	0	2	0	1	3	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr8:95504027C>T	ENST00000297591.5	-	22	4994	c.4919G>A	c.(4918-4920)cGt>cAt	p.R1640H	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1640					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTTCTCTGACGAAAAATATC	0.453													17	86					0	0	0	0	T	95504027	C	T	95504027	3	4	377	1	0	0	0	0	1	0	0	0	8282	536	19	1	531	1	KIAA1429	8	95504027	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	23933939	95504027	50859995	62	72553											
CDKN2A	1029	broad.mit.edu	37	chr9	21971199	21971200	+	Frame_Shift_Ins	INS	-	-	AT																															ccactcgggcgctgcccatcINSatcatgacctgccagagaga																								rs104894095		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:21971199_21971200insAT	ENST00000579755.1	-	2	493_494	c.201_202insAT	c.(199-204)gaatggfs	p.W68fs	CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.W109fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.W68fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.N2fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.N53fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M53I(2)|p.0(1)|p.V28_V51del(1)|p.D109H(1)|p.M53T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCTGCCCATCATCATGACCTG	0.678		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	18	---	---	---	---					AT	21971200	-	AT	21971199	7	5	377	1	0	1	1	0	0	0	0	0	3190	826	29	0	319	0	CDKN2A	9	21971199	Frame_Shift_Ins	INS	-	TCGA-D6-A6EN-01A-11D-A31L-08		21971199	119242232	63	72554											
TAF1L	138474	broad.mit.edu	37	chr9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaccatagggtctgtgcGgcgtcggtggatggacttat	6	11	15	9	4	2	0	1	0	1	0	3	2	2	2	1	5	1	0	1	5	2	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:32631389G>A	ENST00000242310.4	-	1	4278	c.4189C>T	c.(4189-4191)Cgc>Tgc	p.R1397C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1397					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGTCTGTGCGGCGTCGGTGG	0.468													77	123					0	0	0	0	A	32631389	G	A	32631389	3	1	377	1	0	0	0	0	1	0	0	0	15614	1116	39	1	1295	1	TAF1L	9	32631389	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	10660190	32631389	108582042	64	72555											
SHB	6461	broad.mit.edu	37	chr9	37974673	37974673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaggctggtcgtactcatCggcgggcctgtcgtcatcct	5	10	12	14	4	2	0	2	0	0	0	6	0	3	0	3	4	1	2	3	4	2	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:37974673C>T	ENST00000377707.3	-	3	1565	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	334	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TCGTACTCATCGGCGGGCCTG	0.632													31	76					0	0	0	0	T	37974673	C	T	37974673	3	4	377	1	0	0	0	0	1	0	0	0	14356	884	31	1	545	1	SHB	9	37974673	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	5343284	37974673	103238758	65	72556											
APBA1	320	broad.mit.edu	37	chr9	72131431	72131431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaatggtgcagccgcgcGcccagggcctcctggcggta	5	7	15	14	5	0	0	0	0	0	0	2	0	1	0	4	4	2	3	4	4	2	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:72131431G>A	ENST00000265381.4	-	2	918	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	232	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCAGCCGCGCGCCCAGGGCCT	0.726													5	17					0	0	0	0	A	72131431	G	A	72131431	2	1	377	1	0	0	0	0	0	0	0	1	757	1074	38	1		1	APBA1	9	72131431	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	34156758	72131431	69082000	66	72557											
PRUNE2	158471	broad.mit.edu	37	chr9	79318958	79318958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctgattttatctgctcaGgctctttggtaggaattgtt	7	19	9	6	0	4	1	1	1	3	0	4	2	4	2	0	3	1	4	0	3	3	7			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:79318958G>T	ENST00000428286.1	-	9	7694	c.6494C>A	c.(6493-6495)cCt>cAt	p.P2165H	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2524H			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2524					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATCTGCTCAGGCTCTTTGGT	0.373													16	114					2.62699e-14	2.97588e-14	1	0	T	79318958	G	T	79318958	3	4	377	1	0	0	0	0	1	0	0	0	12720	1000	35	4	1739	4	PRUNE2	9	79318958	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	7187527	79318958	61894473	67	72558											
BICD2	23299	broad.mit.edu	37	chr9	95526892	95526892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagcaccgccagcccgtaCtcggccgcctggatcttctc	5	8	10	18	5	2	0	0	0	2	0	5	2	2	1	5	2	3	2	5	2	1	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:95526892C>T	ENST00000356884.6	-	1	202	c.135G>A	c.(133-135)gaG>gaA	p.E45E	BICD2_ENST00000375512.3_Silent_p.E45E	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	45					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGCCCGTACTCGGCCGCCT	0.662													3	9					0	0	0	0	T	95526892	C	T	95526892	2	4	377	1	0	0	0	0	0	0	0	1	1434	564	20	4		4	BICD2	9	95526892	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	16207934	95526892	45686539	68	72559											
TMOD1	7111	broad.mit.edu	37	chr9	100328229	100328229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacggagtaatgaccccGtggcgtatgtatgtaccttt	9	11	12	9	3	0	1	0	1	0	0	0	3	0	3	3	3	1	4	3	3	4	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:100328229G>A	ENST00000395211.2	+	7	854	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TMOD1_ENST00000259365.3_Missense_Mutation_p.V240M|TMOD1_ENST00000375175.1_Missense_Mutation_p.V113M	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	240					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TAATGACCCCGTGGCGTATGT	0.493													16	64					0	0	0	0	A	100328229	G	A	100328229	3	1	377	1	0	0	0	0	1	0	0	0	16327	1145	40	1	740	1	TMOD1	9	100328229	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	4801337	100328229	40885202	69	72560											
GRIN3A	116443	broad.mit.edu	37	chr9	104499889	104499889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaataggagggcgtcccGtggccacagggcctccgccc	7	4	15	15	3	0	0	0	0	0	0	2	1	2	1	5	5	0	1	5	5	2	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:104499889G>A	ENST00000361820.3	-	1	973	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	125					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGGGCGTCCCGTGGCCACAGG	0.697													5	29					0	0	0	0	A	104499889	G	A	104499889	3	1	377	1	0	0	0	0	1	0	0	0	6833	1144	40	1	3010	1	GRIN3A	9	104499889	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	4171660	104499889	36713542	70	72561											
CIZ1	25792	broad.mit.edu	37	chr9	130941637	130941637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtactgtcatccgggcctgCggctgggccttcacctgtaa	5	10	13	13	2	2	0	2	0	0	0	3	0	3	0	4	4	2	3	4	4	2	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:130941637C>T	ENST00000538431.1	-	8	1096	c.849G>A	c.(847-849)ccG>ccA	p.P283P	CIZ1_ENST00000372954.1_Silent_p.P259P|CIZ1_ENST00000393608.1_Silent_p.P283P|CIZ1_ENST00000541172.1_Silent_p.P182P|CIZ1_ENST00000372938.5_Silent_p.P283P|CIZ1_ENST00000372948.3_Silent_p.P283P|CIZ1_ENST00000277465.4_Silent_p.P283P|CIZ1_ENST00000357558.5_Silent_p.P283P|CIZ1_ENST00000325721.8_Silent_p.P254P|CIZ1_ENST00000476727.2_Intron	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	283	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCCGGGCCTGCGGCTGGGCCT	0.567													18	67					0	0	0	0	T	130941637	C	T	130941637	2	4	377	1	0	0	0	0	0	0	0	1	3471	755	27	1		1	CIZ1	9	130941637	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	26441748	130941637	10271794	71	72562											
NOTCH1	4851	broad.mit.edu	37	chr9	139413161	139413161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgctgcagtcctcaccagtCcagccgttgacacacacgca	9	7	8	17	3	1	1	1	1	0	0	4	1	3	1	4	0	2	4	4	0	0	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:139413161C>G	ENST00000277541.6	-	6	1056	c.981G>C	c.(979-981)tgG>tgC	p.W327C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	327	EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCACCAGTCCAGCCGTTGA	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			52	14					0	0	0	0	G	139413161	C	G	139413161	3	3	377	1	0	0	0	0	1	0	0	0	10617	856	30	2	6802	2	NOTCH1	9	139413161	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	8471524	139413161	1800270	72	72563											
HSPA14	51182	broad.mit.edu	37	chr10	14909272	14909272	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcttatgatagagtgttCagccagagatattttagtta	11	16	8	6	0	2	3	1	1	1	2	3	4	2	3	1	0	1	2	1	0	5	7			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr10:14909272C>G	ENST00000378372.3	+	11	1423	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	395					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						ATAGAGTGTTCAGCCAGAGAT	0.343													6	44					0	0	0	0	G	14909272	C	G	14909272	4	3	377	1	0	0	0	0	0	1	0	0	7459	838	29	2	1226	2	HSPA14	10	14909272	Nonsense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		14909272	120625475	73	72564											
C10orf111	221060	broad.mit.edu	37	chr10	15138578	15138578	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttattcggccgcttcatCacttgtccccgactttgcag	6	14	8	13	3	2	0	2	0	0	0	4	1	3	0	3	1	1	3	3	1	1	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr10:15138578C>G	ENST00000378207.3	-	2	519	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	82						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						GCCGCTTCATCACTTGTCCCC	0.507													25	65					0	0	0	0	G	15138578	C	G	15138578	2	3	377	1	0	0	0	0	0	0	0	1	1593	813	29	2		2	C10orf111	10	15138578	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	229306	15138578	120396169	74	72565											
ATE1	11101	broad.mit.edu	37	chr10	123662084	123662084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccttttcctttctttcCggatttcctttgcttttcga	4	22	4	11	2	1	0	0	0	1	0	5	2	4	1	4	1	2	1	4	1	1	9			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr10:123662084C>T	ENST00000369043.3	-	6	721	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	ATE1_ENST00000369040.3_Missense_Mutation_p.R116Q|ATE1_ENST00000543447.1_Missense_Mutation_p.R97Q|ATE1_ENST00000224652.6_Missense_Mutation_p.R212Q|ATE1_ENST00000540606.1_Missense_Mutation_p.R205Q|ATE1_ENST00000535655.1_Intron	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	212					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CCTTTCTTTCCGGATTTCCTT	0.408													10	24					0	0	0	0	T	123662084	C	T	123662084	3	4	377	1	0	0	0	0	1	0	0	0	1082	652	23	1	1082	1	ATE1	10	123662084	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	108523506	123662084	11872663	75	72566											
HRAS	3265	broad.mit.edu	37	chr11	533873	533873	+	Missense_Mutation	SNP	C	C	A																															cgcatggcgctgtactcctcCtggccggcggtatccaggat																								rs121913496		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:533873C>A	ENST00000417302.1	-	3	370	c.183G>T	c.(181-183)caG>caT	p.Q61H	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61H|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61H|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61H|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61H	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61H(20)|p.Q61R(4)|p.Q61Q(1)|p.Q61L(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TGTACTCCTCCTGGCCGGCGG	0.602	Q61H(RL952_ENDOMETRIUM)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			34	83					3.93418e-24	4.63786e-24	1	0	A	533873	C	A	533873	3	1	377	1	0	0	0	0	1	0	0	0	7398	680	24	4	465	4	HRAS	11	533873	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		533873	134472643	76	72567	985	2									
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	A																															gcatggcgctgtactcctccTggccggcggtatccaggatg																								rs121913233		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:533874T>A	ENST00000417302.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			34	85					0	0	0	0	A	533874	T	A	533874	3	1	377	1	0	0	0	0	1	0	0	0	7398	1580	55	5	466	5	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	1	533874	134472642	77	72568	985	2									
AP2A2	161	broad.mit.edu	37	chr11	977193	977193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgggcgactggacatcccGagtggtgcacctgctcaatg	8	8	13	12	2	1	0	1	0	0	0	2	3	2	1	2	3	2	2	2	3	1	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:977193G>A	ENST00000448903.2	+	5	713	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	AP2A2_ENST00000534328.1_Missense_Mutation_p.R191Q|AP2A2_ENST00000332231.5_Missense_Mutation_p.R191Q	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	191					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGACATCCCGAGTGGTGCAC	0.607													6	22					0	0	0	0	A	977193	G	A	977193	3	1	377	1	0	0	0	0	1	0	0	0	741	1058	37	1	590	1	AP2A2	11	977193	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	443319	977193	134029323	78	72569											
OSBPL5	114879	broad.mit.edu	37	chr11	3109525	3109525	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctgcaggaggcctggggtCggtgcctgtgctgcccgtgc	2	9	17	13	2	1	0	0	0	1	0	2	1	1	1	3	5	5	2	3	5	0	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:3109525C>G	ENST00000263650.7	-	22	2709	c.2550G>C	c.(2548-2550)ccG>ccC	p.P850P	OSBPL5_ENST00000542243.1_Silent_p.P481P|OSBPL5_ENST00000389989.3_Silent_p.P782P|OSBPL5_ENST00000478260.1_Silent_p.P304P|OSBPL5_ENST00000348039.5_Silent_p.P782P|OSBPL5_ENST00000525498.1_Silent_p.P761P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	850					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCCTGGGGTCGGTGCCTGTG	0.632													10	29					0	0	0	0	G	3109525	C	G	3109525	2	3	377	1	0	0	0	0	0	0	0	1	11351	871	31	3		3	OSBPL5	11	3109525	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	2132332	3109525	131896991	79	72570											
OR2AG1	144125	broad.mit.edu	37	chr11	6807091	6807091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacaagacaacatcatcTctgttttctacacaattgtc	13	12	4	12	0	3	2	1	0	2	2	5	2	3	2	1	0	2	1	1	0	4	4	rs112661648		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:6807091T>A	ENST00000307401.4	+	1	844	c.823T>A	c.(823-825)Tct>Act	p.S275T		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAACATCATCTCTGTTTTCTA	0.498													11	39					0	0	0	0	A	6807091	T	A	6807091	3	1	377	1	0	0	0	0	1	0	0	0	11055	1551	54	5	825	5	OR2AG1	11	6807091	Missense_Mutation	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	3697566	6807091	128199425	80	72571											
RBMXL2	27288	broad.mit.edu	37	chr11	7111346	7111346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacagcagcagttatggccGgagcgaccgctactcgaggg	9	7	14	11	4	0	0	0	0	0	0	1	3	0	1	2	3	5	4	2	3	3	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:7111346G>A	ENST00000306904.5	+	1	1182	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	332	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTTATGGCCGGAGCGACCGC	0.652													6	33					0	0	0	0	A	7111346	G	A	7111346	3	1	377	1	0	0	0	0	1	0	0	0	13236	1116	39	1	997	1	RBMXL2	11	7111346	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	304255	7111346	127895170	81	72572											
FNBP4	23360	broad.mit.edu	37	chr11	47776172	47776172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcggaaacatcattgtCatcgtcatcactgtcagcat	10	15	6	10	2	5	0	5	0	0	0	7	1	5	1	0	1	2	1	0	1	1	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:47776172C>A	ENST00000263773.5	-	3	370	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	120										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACATCATTGTCATCGTCATCA	0.393													7	48					8.12818e-05	8.54048e-05	1	0	A	47776172	C	A	47776172	3	1	377	1	0	0	0	0	1	0	0	0	6012	826	29	2	2755	2	FNBP4	11	47776172	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	40664826	47776172	87230344	82	72573											
OR4X2	119764	broad.mit.edu	37	chr11	48267105	48267105	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcatgcattcctttgcAcaaatccttctcatcttcca	8	15	4	14	0	3	0	2	0	2	0	7	0	6	0	3	1	2	3	3	1	1	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:48267105A>G	ENST00000302329.3	+	1	498	c.450A>G	c.(448-450)gcA>gcG	p.A150A		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATTCCTTTGCACAAATCCTTC	0.498													31	115					0	0	0	0	G	48267105	A	G	48267105	2	3	377	1	0	0	0	0	0	0	0	1	11156	146	6	5		5	OR4X2	11	48267105	Silent	SNP	A	TCGA-D6-A6EN-01A-11D-A31L-08	490933	48267105	86739411	83	72574											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57075893	57075893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccgaagctgagggcttctCctgtctccattccagggtct	5	12	10	14	1	3	1	0	1	3	0	7	2	5	1	4	2	1	2	4	2	1	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:57075893C>G	ENST00000532437.1	-	5	4603	c.4292G>C	c.(4291-4293)gGa>gCa	p.G1431A	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1431A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1431	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GAGGGCTTCTCCTGTCTCCAT	0.567													63	213					0	0	0	0	G	57075893	C	G	57075893	3	3	377	1	0	0	0	0	1	0	0	0	16414	855	30	2	921	2	TNKS1BP1	11	57075893	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	8808788	57075893	77930623	84	72575											
BCL9L	283149	broad.mit.edu	37	chr11	118771661	118771662	+	Frame_Shift_Ins	INS	-	-	C																															agggtgggcgacttcaagtgINSccccatgcccggtgagccca																										TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:118771661_118771662insC	ENST00000334801.3	-	6	3754_3755	c.2790_2791insG	c.(2788-2793)ggacttfs	p.L931fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	931	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GACTTCAAGTGCCCCATGCCCG	0.619													36	47	---	---	---	---					C	118771662	-	C	118771661	7	5	377	1	0	1	1	0	0	0	0	0	1386	1319	46	0	1720	0	BCL9L	11	118771661	Frame_Shift_Ins	INS	-	TCGA-D6-A6EN-01A-11D-A31L-08	61695768	118771661	16234855	85	72576											
TAS2R13	50838	broad.mit.edu	37	chr12	11061430	11061430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttctttcatatcggtcCagccagtcttttatatgcat	7	18	7	9	1	3	0	1	0	2	0	5	0	4	0	2	1	2	2	2	1	3	6			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr12:11061430C>T	ENST00000390677.2	-	1	731	c.468G>A	c.(466-468)ctG>ctA	p.L156L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	156					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CATATCGGTCCAGCCAGTCTT	0.348													13	36					0	0	0	0	T	11061430	C	T	11061430	2	4	377	1	0	0	0	0	0	0	0	1	15658	581	21	4		4	TAS2R13	12	11061430	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		11061430	122790465	86	72577											
ITPR2	3709	broad.mit.edu	37	chr12	26874260	26874260	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttattaaccaaattaaaTccagaagcttgcatcctgtg	15	13	5	8	0	0	1	0	0	0	1	2	1	2	1	3	0	3	2	3	0	7	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr12:26874260T>A	ENST00000242737.5	-	6	540	c.541A>T	c.(541-543)Att>Ttt	p.I181F	ITPR2_ENST00000381340.3_Intron			Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	0	MIR 2.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCAAATTAAATCCAGAAGCTT	0.338													3	11					0	0	0	0	A	26874260	T	A	26874260	3	1	377	1	0	0	0	0	1	0	0	0	7974	1450	50	5		5	ITPR2	12	26874260	Missense_Mutation	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	15812830	26874260	106977635	87	72578											
NEUROD4	58158	broad.mit.edu	37	chr12	55420807	55420807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatctcctatttgtgactCtgccatctctgtccacaact	9	15	4	13	0	3	1	0	1	3	0	6	1	4	1	3	0	2	0	3	0	4	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr12:55420807C>T	ENST00000242994.3	+	2	962	c.584C>T	c.(583-585)tCt>tTt	p.S195F		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	195					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATTTGTGACTCTGCCATCTCT	0.517													17	40					0	0	0	0	T	55420807	C	T	55420807	3	4	377	1	0	0	0	0	1	0	0	0	10420	913	32	2	586	2	NEUROD4	12	55420807	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	28546547	55420807	78431088	88	72579											
PCCA	5095	broad.mit.edu	37	chr13	100955251	100955251	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaccgttacatctacctgGtgtaagtcattaagctgtaa	13	12	8	8	1	2	1	1	0	1	1	2	1	2	1	2	1	4	4	2	1	6	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr13:100955251G>C	ENST00000376285.1	+	14	1321	c.1284_splice	c.e14+1	p.G428_splice	PCCA_ENST00000376279.3_Splice_Site_p.G428_splice|PCCA_ENST00000376286.4_Splice_Site_p.G402_splice	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	428	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CATCTACCTGGTGTAAGTCAT	0.383													7	32					0	0	0	0	C	100955251	G	C	100955251	5	2	377	1	0	0	0	0	0	0	1	0	11575	1275	44	4	1337	4	PCCA	13	100955251	Splice_Site	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08		100955251	14214627	89	72580											
NALCN	259232	broad.mit.edu	37	chr13	101844291	101844291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggcaaaaagatgatagaGaatgaaatagatggcaacca	20	6	11	4	0	0	5	0	2	0	3	0	6	0	5	1	2	1	2	1	2	7	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr13:101844291G>C	ENST00000251127.6	-	14	1822	c.1741C>G	c.(1741-1743)Ctc>Gtc	p.L581V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.L581V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	581						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGATGATAGAGAATGAAATAG	0.413													5	20					0	0	0	0	C	101844291	G	C	101844291	3	2	377	1	0	0	0	0	1	0	0	0	10218	942	33	2	3599	2	NALCN	13	101844291	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	889040	101844291	13325587	90	72581											
NPAS3	64067	broad.mit.edu	37	chr14	34269411	34269411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgcgggcctggtggagcCcccgcggctgctgtcctccc	2	6	16	17	4	0	0	0	0	0	0	2	2	2	2	5	5	2	2	5	5	0	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr14:34269411C>T	ENST00000346562.2	+	11	1876	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	NPAS3_ENST00000551492.1_Missense_Mutation_p.P638L|NPAS3_ENST00000548645.1_Missense_Mutation_p.P603L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P620L|NPAS3_ENST00000356141.4_Missense_Mutation_p.P633L	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGGTGGAGCCCCCGCGGCTG	0.652													6	20					0	0	0	0	T	34269411	C	T	34269411	3	4	377	1	0	0	0	0	1	0	0	0	10634	623	22	4	1999	4	NPAS3	14	34269411	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		34269411	73080129	91	72582											
DMXL2	23312	broad.mit.edu	37	chr15	51743860	51743860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgaatgaggctgtttcCgggtgatattaatgtgtccc	9	13	11	8	1	0	3	0	3	0	0	2	3	2	3	3	2	0	2	3	2	3	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr15:51743860C>T	ENST00000251076.5	-	41	8952	c.8665G>A	c.(8665-8667)Gga>Aga	p.G2889R	DMXL2_ENST00000543779.2_Missense_Mutation_p.G2890R|DMXL2_ENST00000449909.3_Missense_Mutation_p.G2253R|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2889						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGGCTGTTTCCGGGTGATATT	0.323													7	19					0	0	0	0	T	51743860	C	T	51743860	3	4	377	1	0	0	0	0	1	0	0	0	4632	661	23	1	457	1	DMXL2	15	51743860	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		51743860	50787532	92	72583											
ZNF629	23361	broad.mit.edu	37	chr16	30795057	30795057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcgccggtgtgcgtgcGctggtgctgcaccaggtgcg	2	10	16	13	5	1	0	0	0	1	0	2	0	1	0	2	3	5	3	2	3	0	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr16:30795057G>A	ENST00000262525.4	-	3	799	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GTGTGCGTGCGCTGGTGCTGC	0.672													11	35					0	0	0	0	A	30795057	G	A	30795057	3	1	377	1	0	0	0	0	1	0	0	0	18148	1087	38	1	2021	1	ZNF629	16	30795057	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08		30795057	59559696	93	72584											
WDR59	79726	broad.mit.edu	37	chr16	74927661	74927661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccagcagccttgatctgtCgattgccagagtctgatccc	7	11	9	14	1	2	3	0	2	2	1	5	4	4	3	4	0	3	1	4	0	0	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr16:74927661C>T	ENST00000262144.6	-	19	2046	c.1916G>A	c.(1915-1917)cGa>cAa	p.R639Q		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	639										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTTGATCTGTCGATTGCCAGA	0.458													34	74					0	0	0	0	T	74927661	C	T	74927661	3	4	377	1	0	0	0	0	1	0	0	0	17404	884	31	1	1040	1	WDR59	16	74927661	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	44132604	74927661	15427092	94	72585											
USP6	9098	broad.mit.edu	37	chr17	5064823	5064823	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctcttctgtttcagTgataactgtatgggctatca	7	19	8	7	0	4	1	2	1	2	0	5	1	4	1	0	1	1	4	0	1	3	7			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr17:5064823T>A	ENST00000574788.1	+	32	5059	c.2828_splice	c.e32-1	p.R943_splice	USP6_ENST00000304328.5_Splice_Site_p.R626_splice|USP6_ENST00000250066.6_Splice_Site_p.R943_splice|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	943					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTGTTTCAGTGATAACTGTA	0.433			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								8	15					0	0	0	0	A	5064823	T	A	5064823	5	1	377	1	0	0	0	0	0	0	1	0	17182	1710	59	5	2919	5	USP6	17	5064823	Splice_Site	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08		5064823	76130387	95	72586											
ZNF594	84622	broad.mit.edu	37	chr17	5087404	5087404	+	Frame_Shift_Del	DEL	T	T	-																															cattgcatcctttaaagggcTtacccagtgcttcaataatc																										TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr17:5087404delT	ENST00000399604.4	-	1	288	c.148delA	c.(148-150)gcfs	p.S50fs	ZNF594_ENST00000575779.1_Frame_Shift_Del_p.S50fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTAAAGGGCTTACCCAGTGC	0.458													26	52	---	---	---	---					-	5087404	T	-	5087404	7	5	377	1	0	1	0	1	0	0	0	0	18119	1609	56	0	2279	0	ZNF594	17	5087404	Frame_Shift_Del	DEL	T	TCGA-D6-A6EN-01A-11D-A31L-08	22581	5087404	76107806	96	72587											
DNAH9	1770	broad.mit.edu	37	chr17	11666861	11666861	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccctgcagactgccctaAggaaatttatgagcattatt	12	12	7	10	0	0	2	0	1	0	1	1	3	1	3	2	1	3	2	2	1	4	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr17:11666861A>C	ENST00000262442.3	+	36	7168	c.7100A>C	c.(7099-7101)aAg>aCg	p.K2367T	DNAH9_ENST00000454412.2_Missense_Mutation_p.K2367T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2367					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GACTGCCCTAAGGAAATTTAT	0.488													16	53					0	0	0	0	C	11666861	A	C	11666861	3	2	377	1	0	0	0	0	1	0	0	0	4644	72	3	5	7242	5	DNAH9	17	11666861	Missense_Mutation	SNP	A	TCGA-D6-A6EN-01A-11D-A31L-08	6579457	11666861	69528349	97	72588											
L3MBTL4	91133	broad.mit.edu	37	chr18	6263958	6263958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgaccttggaaaacagCtcaacaggtgctgcgacagc	11	7	12	11	1	1	1	1	1	0	0	1	3	1	2	1	3	6	3	1	3	3	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr18:6263958C>A	ENST00000400104.3	-	5	407	c.207G>T	c.(205-207)gaG>gaT	p.E69D	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E69D|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E69D|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.E69D			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	69					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGAAAACAGCTCAACAGGTG	0.453													7	48					2.17888e-05	2.30611e-05	1	0	A	6263958	C	A	6263958	3	1	377	1	0	0	0	0	1	0	0	0	8647	796	28	4	1728	4	L3MBTL4	18	6263958	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		6263958	71813290	98	72589											
VAPA	9218	broad.mit.edu	37	chr18	9936135	9936135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccctttgactatgatccGaatgaaaagagtaaacacaa	17	8	7	9	1	0	4	0	3	0	1	1	5	1	4	2	0	2	1	2	0	7	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr18:9936135G>A	ENST00000400000.2	+	3	516	c.261G>A	c.(259-261)ccG>ccA	p.P87P	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Silent_p.P87P	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	87	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						ACTATGATCCGAATGAAAAGA	0.333													5	56					0	0	0	0	A	9936135	G	A	9936135	2	1	377	1	0	0	0	0	0	0	0	1	17217	1045	37	1		1	VAPA	18	9936135	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	3672177	9936135	68141113	99	72590											
ANKRD29	147463	broad.mit.edu	37	chr18	21214078	21214078	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaccacctgcatgtgcccGtactgactggcagccaacag	9	7	9	16	1	0	1	0	1	0	0	1	1	1	1	5	1	5	3	5	1	2	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr18:21214078G>A	ENST00000592179.1	-	5	520	c.366C>T	c.(364-366)taC>taT	p.Y122Y	ANKRD29_ENST00000322980.9_Silent_p.Y122Y|ANKRD29_ENST00000284207.7_Silent_p.Y122Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	122										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCATGTGCCCGTACTGACTGG	0.512													15	46					0	0	0	0	A	21214078	G	A	21214078	2	1	377	1	0	0	0	0	0	0	0	1	657	1140	40	1		1	ANKRD29	18	21214078	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	11277943	21214078	56863170	100	72591											
CCL25	6370	broad.mit.edu	37	chr19	8122796	8122796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctccctcctgatatcagCtaattcaggtaaggactctt	9	14	7	11	0	4	1	2	1	2	0	6	2	5	2	2	2	1	2	2	2	3	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:8122796C>G	ENST00000253451.4	+	5	540	c.434C>G	c.(433-435)gCt>gGt	p.A145G	CCL25_ENST00000390669.3_Missense_Mutation_p.A146G	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	146					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ctgatatcagctaattcaggt	0.478													18	64					0	0	0	0	G	8122796	C	G	8122796	3	3	377	1	0	0	0	0	1	0	0	0	2924	797	28	4	451	4	CCL25	19	8122796	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		8122796	51006187	101	72592											
RYR1	6261	broad.mit.edu	37	chr19	38976393	38976393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcacgccctggaggacGcgcacctgccaggcccactg	6	5	13	17	3	0	0	0	0	0	0	0	2	0	2	4	3	3	3	4	3	0	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:38976393G>A	ENST00000355481.4	+	34	5229	c.5098G>A	c.(5098-5100)Gcg>Acg	p.A1700T	RYR1_ENST00000359596.3_Missense_Mutation_p.A1700T|RYR1_ENST00000360985.3_Missense_Mutation_p.A1700T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1700	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGGAGGACGCGCACCTGCC	0.657													16	70					0	0	0	0	A	38976393	G	A	38976393	3	1	377	1	0	0	0	0	1	0	0	0	13853	1087	38	1	5232	1	RYR1	19	38976393	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	30853597	38976393	20152590	102	72593											
ITPKC	80271	broad.mit.edu	37	chr19	41223947	41223947	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagcctgaggatggcccaTtagaggaaccagagcctgga	12	5	15	9	0	0	4	0	1	0	3	0	8	0	7	4	4	3	0	4	4	2	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:41223947T>C	ENST00000263370.2	+	1	940	c.907T>C	c.(907-909)Tta>Cta	p.L303L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	303						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGGCCCATTAGAGGAACC	0.572													15	52					0	0	0	0	C	41223947	T	C	41223947	2	2	377	1	0	0	0	0	0	0	0	1	7972	1490	52	5		5	ITPKC	19	41223947	Silent	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	2247554	41223947	17905036	103	72594											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41770697	41770697	+	Frame_Shift_Del	DEL	G	G	-																															gcggctactcggggccggacGgacattgtgagagtgcgcgg																										TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:41770697delG	ENST00000392006.3	+	1	462	c.289delG	c.(289-291)gafs	p.G97fs	HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.G54fs|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.G97fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	97	Necessary for interaction with HRMT1L1.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGGCCGGACGGACATTGTGA	0.776													2	4	---	---	---	---					-	41770697	G	-	41770697	7	5	377	1	0	1	0	1	0	0	0	0	7324	1117	39	0	291	0	HNRNPUL1	19	41770697	Frame_Shift_Del	DEL	G	TCGA-D6-A6EN-01A-11D-A31L-08	546750	41770697	17358286	104	72595											
BCL3	602	broad.mit.edu	37	chr19	45259540	45259540	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagctgtgcaccggctGgtcaacctcttccagcaggg	6	8	12	15	1	2	0	1	0	1	0	3	0	3	0	4	3	5	4	4	3	1	1			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:45259540G>A	ENST00000164227.5	+	3	706	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	154					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TGCACCGGCTGGTCAACCTCT	0.622			T	IGH@	CLL								6	25					0	0	0	0	A	45259540	G	A	45259540	2	1	377	1	0	0	0	0	0	0	0	1	1379	1335	47	4		4	BCL3	19	45259540	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	3488843	45259540	13869443	105	72596											
RELB	5971	broad.mit.edu	37	chr19	45515201	45515201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctcccgcagagatcatCgacgagtacatcaaggagaa	13	8	9	11	3	4	2	2	0	2	2	6	6	4	2	1	1	1	2	1	1	3	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:45515201C>T	ENST00000221452.8	+	4	321	c.171C>T	c.(169-171)atC>atT	p.I57I	RELB_ENST00000505236.1_Silent_p.I54I|RELB_ENST00000540120.1_Silent_p.I57I	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	57	Leucine-zipper.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGAGATCATCGACGAGTACA	0.557													3	15					0	0	0	0	T	45515201	C	T	45515201	2	4	377	1	0	0	0	0	0	0	0	1	13299	874	31	1		1	RELB	19	45515201	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	255661	45515201	13613782	106	72597											
SNRNP70	6625	broad.mit.edu	37	chr19	49611236	49611236	+	Frame_Shift_Del	DEL	A	A	-																															ccagggagcggagcaaggacAaggaccgggaccggaagcgg																										TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:49611236delA	ENST00000221448.5	+	10	1019	c.823delA	c.(823-825)agfs	p.K275fs	SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.K284fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	284	Arg/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GAGCAAGGACAAGGACCGGGA	0.751													2	4	---	---	---	---					-	49611236	A	-	49611236	7	5	377	1	0	1	0	1	0	0	0	0	14946	131	5	0	884	0	SNRNP70	19	49611236	Frame_Shift_Del	DEL	A	TCGA-D6-A6EN-01A-11D-A31L-08	4096035	49611236	9517747	107	72598											
ZNF160	90338	broad.mit.edu	37	chr19	53573249	53573249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaagcttactccaagctGattgttcataagcttgtttt	11	16	7	7	0	1	2	1	2	0	0	2	2	2	2	1	0	4	5	1	0	4	7			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:53573249G>A	ENST00000601421.1	-	3	1306	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	ZNF160_ENST00000599056.1_Nonsense_Mutation_p.Q180*|ZNF160_ENST00000429604.1_Nonsense_Mutation_p.Q180*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.Q180*			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	180					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACTCCAAGCTGATTGTTCATA	0.403													16	54					0	0	0	0	A	53573249	G	A	53573249	4	1	377	1	0	0	0	0	0	1	0	0	17834	1299	45	2	1922	2	ZNF160	19	53573249	Nonsense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	3962013	53573249	5555734	108	72599											
PEG3	5178	broad.mit.edu	37	chr19	57326722	57326722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccttacatttgttccGcgcttgctctttagcatact	7	16	7	11	2	1	0	0	0	1	0	3	1	3	0	2	0	4	4	2	0	4	7			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:57326722G>A	ENST00000326441.9	-	10	3451	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R904W|PEG3_ENST00000423103.2_Missense_Mutation_p.R1030W|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R906W|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1030					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATTTGTTCCGCGCTTGCTCT	0.468													16	31					0	0	0	0	A	57326722	G	A	57326722	3	1	377	1	0	0	0	0	1	0	0	0	11791	1086	38	1	1682	1	PEG3	19	57326722	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	3753473	57326722	1802261	109	72600											
AURKC	6795	broad.mit.edu	37	chr19	57746758	57746758	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccactcccgaagggtgctGcctccctgtgctcagatggc	5	8	12	16	1	1	1	1	0	0	1	3	2	3	1	4	2	3	2	4	2	1	0	rs140410966		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:57746758G>T	ENST00000302804.7	+	7	1089	c.903G>T	c.(901-903)ctG>ctT	p.L301L	AURKC_ENST00000599062.1_Silent_p.L298L|AURKC_ENST00000448930.1_Silent_p.L267L|AURKC_ENST00000598785.1_Silent_p.L267L|AURKC_ENST00000415300.2_Silent_p.L282L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	301					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GAAGGGTGCTGCCTCCCTGTG	0.577													23	60					3.28513e-13	3.63621e-13	1	0	T	57746758	G	T	57746758	2	4	377	1	0	0	0	0	0	0	0	1	1228	1306	46	4		4	AURKC	19	57746758	Silent	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	420036	57746758	1382225	110	72601											
NINL	22981	broad.mit.edu	37	chr20	25436366	25436366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccatattcttcagaatCatctccgcctcttccacccg	8	14	3	16	2	5	1	2	0	3	1	8	1	7	1	5	0	0	0	5	0	2	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr20:25436366C>A	ENST00000278886.6	-	23	3973	c.3900G>T	c.(3898-3900)atG>atT	p.M1300I	NINL_ENST00000422516.1_Missense_Mutation_p.M951I|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1300					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCTTCAGAATCATCTCCGCCT	0.517													50	191					2.48909e-17	2.86443e-17	1	0	A	25436366	C	A	25436366	3	1	377	1	0	0	0	0	1	0	0	0	10490	826	29	2	256	2	NINL	20	25436366	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		25436366	37589154	111	72602											
CEP250	11190	broad.mit.edu	37	chr20	34053609	34053609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaatgtggaggagccaaaCctggatgagctgctggtccg	11	7	15	8	1	0	1	0	1	0	0	1	5	1	4	3	4	4	2	3	4	3	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr20:34053609C>A	ENST00000397527.1	+	6	1005	c.285C>A	c.(283-285)aaC>aaA	p.N95K	CEP250_ENST00000397524.1_Missense_Mutation_p.N95K|CEP250_ENST00000342580.4_Missense_Mutation_p.N95K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	95					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGAGCCAAACCTGGATGAGC	0.542													4	10					0.150653	0.1517	1	0	A	34053609	C	A	34053609	3	1	377	1	0	0	0	0	1	0	0	0	3281	506	18	4	295	4	CEP250	20	34053609	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	8617243	34053609	28971911	112	72603											
ATXN10	25814	broad.mit.edu	37	chr22	46125410	46125410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagttgattgcaagcacCtttgtggatcagtgcaagac	10	11	12	8	0	1	3	1	2	0	1	1	4	1	4	1	1	3	5	1	1	2	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr22:46125410C>T	ENST00000252934.5	+	7	1099	c.834C>T	c.(832-834)acC>acT	p.T278T	ATXN10_ENST00000381061.4_Silent_p.T214T	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	278					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTGCAAGCACCTTTGTGGATC	0.488													12	61					0	0	0	0	T	46125410	C	T	46125410	2	4	377	1	0	0	0	0	0	0	0	1	1214	668	24	4		4	ATXN10	22	46125410	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08		46125410	5179156	113	72604											
RPS6KA3	6197	broad.mit.edu	37	chrX	20190989	20190989	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatactgttcctgtgtaactGctacaaaaaattataaattg	16	14	5	6	0	0	0	0	0	0	0	1	0	1	0	1	0	4	3	1	0	10	7			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:20190989G>A	ENST00000379565.3	-	15	1435	c.1227_splice	c.e15-1	p.Q410_splice	RPS6KA3_ENST00000379548.4_Intron|RPS6KA3_ENST00000544447.1_Splice_Site_p.Q382_splice|RPS6KA3_ENST00000540702.1_Intron	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	410				Missing (in Ref. 3; BAD92170).	axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CTGTGTAACTGCTACAAAAAA	0.353													7	6					0	0	0	0	A	20190989	G	A	20190989	5	1	377	1	0	0	0	0	0	0	1	0	13737	1333	46	4	1026	4	RPS6KA3	23	20190989	Splice_Site	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08		20190989	135079571	114	72605											
FGD1	2245	broad.mit.edu	37	chrX	54475631	54475631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatagaattgaagggctccTggcagcgcatgcacatggtg	10	9	14	8	1	0	3	0	2	0	1	1	3	1	3	1	3	2	4	1	3	3	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:54475631T>A	ENST00000375135.3	-	15	2952	c.2219A>T	c.(2218-2220)cAg>cTg	p.Q740L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	740					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAAGGGCTCCTGGCAGCGCAT	0.602													3	42					0	0	0	0	A	54475631	T	A	54475631	3	1	377	1	0	0	0	0	1	0	0	0	5877	1580	55	5	682	5	FGD1	23	54475631	Missense_Mutation	SNP	T	TCGA-D6-A6EN-01A-11D-A31L-08	34284642	54475631	100794929	115	72606											
ZMYM3	9203	broad.mit.edu	37	chrX	70466245	70466245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccaccttgcaggagaCgccccgattctgcatcagtg	8	9	9	15	2	3	1	1	0	2	1	4	3	3	1	4	1	2	2	4	1	0	2			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:70466245C>T	ENST00000373998.1	-	15	3191	c.2494G>A	c.(2494-2496)Gtc>Atc	p.V832I	ZMYM3_ENST00000353904.2_Missense_Mutation_p.V844I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V844I|ZMYM3_ENST00000373984.3_Missense_Mutation_p.V846I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.V846I	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	844					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGCAGGAGACGCCCCGATTC	0.592													10	13					0	0	0	0	T	70466245	C	T	70466245	3	4	377	1	0	0	0	0	1	0	0	0	17796	536	19	1	1626	1	ZMYM3	23	70466245	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	15990614	70466245	84804315	116	72607											
KIAA2022	340533	broad.mit.edu	37	chrX	73963134	73963134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttggattcttaagttGctctacttcagtcccactgc	6	16	7	12	0	3	0	1	0	2	0	4	1	4	1	1	1	4	3	1	1	2	6			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:73963134G>T	ENST00000373468.1	-	3	1909	c.1258C>A	c.(1258-1260)Caa>Aaa	p.Q420K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q420K			Q5QGS0	K2022_HUMAN	KIAA2022	420					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCTTAAGTTGCTCTACTTCA	0.423													42	38					3.43241e-23	4.01371e-23	1	0	T	73963134	G	T	73963134	3	4	377	1	0	0	0	0	1	0	0	0	8320	1328	46	4	3300	4	KIAA2022	23	73963134	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	3496889	73963134	81307426	117	72608											
KLHL4	56062	broad.mit.edu	37	chrX	86880613	86880613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcactacttttcagttaCtggcagatcttgaaaccagt	11	13	7	10	0	3	2	2	1	1	1	3	2	3	2	1	1	3	3	1	1	3	5			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:86880613C>A	ENST00000373119.4	+	6	1286	c.1141C>A	c.(1141-1143)Ctg>Atg	p.L381M	KLHL4_ENST00000373114.4_Missense_Mutation_p.L381M	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	381						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTTTCAGTTACTGGCAGATCT	0.408													9	9					2.17888e-05	2.30611e-05	1	0	A	86880613	C	A	86880613	3	1	377	1	0	0	0	0	1	0	0	0	8443	564	20	4	1163	4	KLHL4	23	86880613	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	12917479	86880613	68389947	118	72609											
SERPINA7	6906	broad.mit.edu	37	chrX	105277537	105277537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctagaaagagaatactcCttgtgcttctctccaaaatc	12	12	5	12	0	1	2	0	0	1	2	6	3	4	2	3	0	2	1	3	0	6	4			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:105277537C>A	ENST00000327674.4	-	4	1537	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	SERPINA7_ENST00000372563.1_Missense_Mutation_p.R401M			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	401					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAGAATACTCCTTGTGCTTCT	0.403													57	56					1.03172e-35	1.22623e-35	1	0	A	105277537	C	A	105277537	3	1	377	1	0	0	0	0	1	0	0	0	14181	681	24	4	49	4	SERPINA7	23	105277537	Missense_Mutation	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	18396924	105277537	49993023	119	72610											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299869	125299869	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgcctcgaccgcgggCgctttccgtttcctgctacc	2	10	10	19	6	0	0	0	0	0	0	4	1	3	0	6	1	2	4	6	1	1	3			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:125299869C>A	ENST00000538699.1	-	2	119	c.39G>T	c.(37-39)gcG>gcT	p.A13A	DCAF12L2_ENST00000360028.2_Silent_p.A13A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	13										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGACCGCGGGCGCTTTCCGTT	0.751													4	11					0.000602214	0.000619298	1	0	A	125299869	C	A	125299869	2	1	377	1	0	0	0	0	0	0	0	1	4298	755	27	3		3	DCAF12L2	23	125299869	Silent	SNP	C	TCGA-D6-A6EN-01A-11D-A31L-08	20022332	125299869	29970691	120	72611											
SLITRK2	84631	broad.mit.edu	37	chrX	144904872	144904872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccaaaatgagaaatcGtccaactcctcgagtgactg	12	7	9	13	3	0	2	0	2	0	1	4	4	2	2	4	0	1	0	4	0	4	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:144904872G>A	ENST00000370490.1	+	1	5184	c.929G>A	c.(928-930)cGt>cAt	p.R310H	SLITRK2_ENST00000428560.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R310H			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	310						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGAAATCGTCCAACTCCT	0.552													19	20					0	0	0	0	A	144904872	G	A	144904872	3	1	377	1	0	0	0	0	1	0	0	0	14831	1145	40	1	931	1	SLITRK2	23	144904872	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	19605003	144904872	10365688	121	72612											
ATP2B3	492	broad.mit.edu	37	chrX	152801884	152801884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggatgtcagcgggctctGccggaggctgaagacctcac	7	6	16	12	3	3	2	2	1	1	1	3	4	3	4	2	5	2	2	2	5	1	0			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:152801884G>T	ENST00000370186.1	+	2	505	c.179G>T	c.(178-180)tGc>tTc	p.C60F	ATP2B3_ENST00000349466.2_Missense_Mutation_p.C60F|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C60F|ATP2B3_ENST00000370181.2_Missense_Mutation_p.C60F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C60F|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C60F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	60					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCGGGCTCTGCCGGAGGCTG	0.662													2	2					1	1	1	0	T	152801884	G	T	152801884	3	4	377	1	0	0	0	0	1	0	0	0	1145	1319	46	4	181	4	ATP2B3	23	152801884	Missense_Mutation	SNP	G	TCGA-D6-A6EN-01A-11D-A31L-08	7897012	152801884	2468676	122	72613											
C1orf159	54991	broad.mit.edu	37	chr1	1019364	1019364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggagggcctggcggaGgccggctgcgtctgtcctcg	3	7	18	13	4	2	0	1	0	1	0	4	2	3	2	3	6	1	2	3	6	0	0			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:1019364G>A	ENST00000448924.1	-	10	1410	c.979C>T	c.(979-981)Ctc>Ttc	p.L327F	C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Missense_Mutation_p.L327F|C1orf159_ENST00000294576.5_Missense_Mutation_p.L291F|C1orf159_ENST00000379320.1_Missense_Mutation_p.L291F|C1orf159_ENST00000379319.1_Intron			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	327						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCTGGCGGAGGCCGGCTGCG	0.647													4	8					0	0	0	0	A	1019364	G	A	1019364	3	1	378	1	0	0	0	0	1	0	0	0	2027	1015	35	4		4	C1orf159	1	1019364	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08		1019364	248231257	1	72614											
PUM1	9698	broad.mit.edu	37	chr1	31454214	31454214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgctgctgagcagctgtCaactgctggacagcaagcgc	8	8	13	12	1	1	1	1	1	0	0	1	2	1	2	0	1	9	7	0	1	2	0			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:31454214C>G	ENST00000373747.3	-	8	1296	c.1197G>C	c.(1195-1197)ttG>ttC	p.L399F	PUM1_ENST00000440538.2_Missense_Mutation_p.L399F|PUM1_ENST00000426105.2_Missense_Mutation_p.L399F|PUM1_ENST00000424085.2_Missense_Mutation_p.L157F|PUM1_ENST00000423018.2_Missense_Mutation_p.L303F|PUM1_ENST00000373741.4_Missense_Mutation_p.L435F|PUM1_ENST00000257075.5_Missense_Mutation_p.L399F|PUM1_ENST00000373742.2_Missense_Mutation_p.L339F	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	399	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			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)		GAGCAGCTGTCAACTGCTGGA	0.498													19	31					0	0	0	0	G	31454214	C	G	31454214	3	3	378	1	0	0	0	0	1	0	0	0	12907	825	29	2	2429	2	PUM1	1	31454214	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	30434850	31454214	217796407	2	72615											
HIVEP3	59269	broad.mit.edu	37	chr1	42047649	42047649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcggctggacccactCaaagagacattgctttcctg	9	9	11	12	1	1	2	1	1	0	1	2	4	2	3	2	2	2	3	2	2	1	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:42047649C>A	ENST00000372584.1	-	3	3834	c.2820G>T	c.(2818-2820)ttG>ttT	p.L940F	HIVEP3_ENST00000429157.2_Missense_Mutation_p.L940F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L940F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L940F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	940	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGACCCACTCAAAGAGACAT	0.622													13	198					3.27435e-08	3.4607e-08	1	0	A	42047649	C	A	42047649	3	1	378	1	0	0	0	0	1	0	0	0	7238	825	29	2	4424	2	HIVEP3	1	42047649	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	10593435	42047649	207202972	3	72616											
ZFYVE9	9372	broad.mit.edu	37	chr1	52698894	52698894	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgatggagaattacttcCaagcagaagcttacaacctg	14	8	8	11	1	0	2	0	0	0	2	1	4	1	2	3	1	5	2	3	1	6	3	rs145555218		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:52698894C>G	ENST00000287727.3	+	3	188	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.Q6E|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q6E|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Q6E	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	6					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.Q6*(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAATTACTTCCAAGCAGAAGC	0.323													30	45					0	0	0	0	G	52698894	C	G	52698894	3	3	378	1	0	0	0	0	1	0	0	0	17766	595	21	4	18	4	ZFYVE9	1	52698894	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	10651245	52698894	196551727	4	72617											
C1orf177	163747	broad.mit.edu	37	chr1	55307479	55307479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctttttaaagggaaaGgatcacaccatttactaagg	13	13	8	7	0	3	0	1	0	2	0	3	2	3	2	1	3	1	0	1	3	5	6			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:55307479G>A	ENST00000371273.3	+	10	1205	c.1190G>A	c.(1189-1191)aGg>aAg	p.R397K	C1orf177_ENST00000358193.3_3'UTR	NM_001110533.1	NP_001104003.1	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	397										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						taaagggaaaggatcacacca	0.463													3	5					0	0	0	0	A	55307479	G	A	55307479	3	1	378	1	0	0	0	0	1	0	0	0	2036	1000	35	4	1293	4	C1orf177	1	55307479	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	2608585	55307479	193943142	5	72618											
IL12RB2	3595	broad.mit.edu	37	chr1	67792498	67792498	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacctgggaaagaggaCgagacacccacttatacact	13	6	9	13	1	0	2	0	0	0	2	0	5	0	4	3	2	2	1	3	2	3	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:67792498C>T	ENST00000262345.1	+	4	1085	c.445C>T	c.(445-447)Cga>Tga	p.R149*	IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.R149*|IL12RB2_ENST00000371000.1_Nonsense_Mutation_p.R149*|IL12RB2_ENST00000541374.1_Nonsense_Mutation_p.R149*	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	149	Fibronectin type-III 1.		R -> Q (in dbSNP:rs17129792).		positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGAAAGAGGACGAGACACCCA	0.408													15	50					0	0	0	0	T	67792498	C	T	67792498	4	4	378	1	0	0	0	0	0	1	0	0	7680	528	19	1	455	1	IL12RB2	1	67792498	Nonsense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	12485019	67792498	181458123	6	72619											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77509973	77509973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggctcccagattgacCagacagagtgtgtcatccgc	10	7	12	12	1	1	4	1	1	0	3	3	4	3	4	3	2	0	2	3	2	1	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:77509973C>A	ENST00000477717.1	+	3	581	c.346C>A	c.(346-348)Cag>Aag	p.Q116K		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	116					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGATTGACCAGACAGAGTG	0.617													21	24					7.41877e-09	7.90525e-09	1	0	A	77509973	C	A	77509973	3	1	378	1	0	0	0	0	1	0	0	0	15317	595	21	4	356	4	ST6GALNAC5	1	77509973	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	9717475	77509973	171740648	7	72620											
IFI44	10561	broad.mit.edu	37	chr1	79120767	79120767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccctggttcaacaaatacGaattctgctgctgggtccaa	11	11	8	11	1	2	0	1	0	1	0	4	1	4	0	2	2	4	3	2	2	5	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:79120767G>A	ENST00000370747.4	+	4	648	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	188					response to virus	cytoplasm		p.R188Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CAACAAATACGAATTCTGCTG	0.463													23	39					0	0	0	0	A	79120767	G	A	79120767	3	1	378	1	0	0	0	0	1	0	0	0	7570	1058	37	1	573	1	IFI44	1	79120767	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	1610794	79120767	170129854	8	72621											
ELTD1	64123	broad.mit.edu	37	chr1	79392614	79392614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattttttcaagttcatatAatgtgggtgggtttgagctc	8	19	10	4	0	2	1	2	1	0	0	3	1	2	1	0	2	1	3	0	2	4	8			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:79392614A>G	ENST00000370742.3	-	8	1103	c.1040T>C	c.(1039-1041)tTa>tCa	p.L347S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	347					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		AAGTTCATATAATGTGGGTGG	0.333													18	38					0	0	0	0	G	79392614	A	G	79392614	3	3	378	1	0	0	0	0	1	0	0	0	5122	372	13	5	1064	5	ELTD1	1	79392614	Missense_Mutation	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08	271847	79392614	169858007	9	72622											
PAPPA2	60676	broad.mit.edu	37	chr1	176734863	176734863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgctgcttgatcatgctGatgtggtgaactgtacctct	7	15	10	9	0	2	3	1	3	1	0	2	3	2	3	1	1	5	4	1	1	2	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:176734863G>A	ENST00000367662.3	+	15	5377	c.4213G>A	c.(4213-4215)Gat>Aat	p.D1405N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1405	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGATCATGCTGATGTGGTGAA	0.507													45	94					0	0	0	0	A	176734863	G	A	176734863	3	1	378	1	0	0	0	0	1	0	0	0	11504	1290	45	2	4320	2	PAPPA2	1	176734863	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	97342249	176734863	72515758	10	72623											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933614	209933614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggagctagaggagaaggGcaaagcgcagcatccccagg	12	3	15	11	1	0	2	0	0	0	2	1	4	1	3	3	4	3	4	3	4	3	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:209933614G>A	ENST00000367024.1	+	3	746	c.230G>A	c.(229-231)gGc>gAc	p.G77D	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G77D			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	77						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAGGAGAAGGGCAAAGCGCAG	0.597													3	38					0	0	0	0	A	209933614	G	A	209933614	3	1	378	1	0	0	0	0	1	0	0	0	16537	1203	42	4	232	4	TRAF3IP3	1	209933614	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	33198751	209933614	39317007	11	72624											
PXDN	7837	broad.mit.edu	37	chr2	1652648	1652648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccccggccaggaagcagggGatggggctctcgttctcgtc	5	8	15	13	3	2	0	0	0	2	0	6	2	3	2	3	6	1	3	3	6	1	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:1652648G>A	ENST00000252804.4	-	17	2954	c.2904C>T	c.(2902-2904)atC>atT	p.I968I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	968					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAAGCAGGGGATGGGGCTCT	0.706													4	16					0	0	0	0	A	1652648	G	A	1652648	2	1	378	1	0	0	0	0	0	0	0	1	12929	1164	41	2		2	PXDN	2	1652648	Silent	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08		1652648	241546725	12	72625											
MYT1L	23040	broad.mit.edu	37	chr2	1926541	1926541	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggccaggtcgaagcActgattcctcaaacactcca	10	9	7	15	1	1	1	1	1	0	0	5	2	4	1	4	2	2	1	4	2	2	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:1926541A>C	ENST00000399161.2	-	10	1747	c.1000T>G	c.(1000-1002)Tgc>Ggc	p.C334G	MYT1L_ENST00000428368.2_Missense_Mutation_p.C334G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	334					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGGTCGAAGCACTGATTCCTC	0.547													25	43					0	0	0	0	C	1926541	A	C	1926541	3	2	378	1	0	0	0	0	1	0	0	0	10177	159	6	5	2618	5	MYT1L	2	1926541	Missense_Mutation	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08	273893	1926541	241272832	13	72626											
REG3A	5068	broad.mit.edu	37	chr2	79384769	79384769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttctctcccatgcaaagTaattcatcacatcactgcta	12	13	4	12	0	4	0	3	0	1	0	6	1	5	0	1	0	2	3	1	0	3	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:79384769T>C	ENST00000393878.1	-	4	643	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	REG3A_ENST00000409839.3_Missense_Mutation_p.Y130C|REG3A_ENST00000305165.2_Missense_Mutation_p.Y130C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	130	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CCATGCAAAGTAATTCATCAC	0.547													35	86					0	0	0	0	C	79384769	T	C	79384769	3	2	378	1	0	0	0	0	1	0	0	0	13294	1638	57	5	146	5	REG3A	2	79384769	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	77458228	79384769	163814604	14	72627											
RBM43	375287	broad.mit.edu	37	chr2	152107874	152107874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcaggtactaaggtcCtgactgatgccaaagagtta	12	10	10	9	0	1	3	1	2	1	1	3	3	2	3	2	2	2	2	2	2	4	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:152107874C>T	ENST00000331426.5	-	4	771	c.620G>A	c.(619-621)aGg>aAg	p.R207K		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	207							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TACTAAGGTCCTGACTGATGC	0.393													23	40					0	0	0	0	T	152107874	C	T	152107874	3	4	378	1	0	0	0	0	1	0	0	0	13219	681	24	4	457	4	RBM43	2	152107874	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	72723105	152107874	91091499	15	72628											
PLA2R1	22925	broad.mit.edu	37	chr2	160826660	160826660	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgaatctaggttcataccGaaattcatcattggctcttt	12	15	6	8	1	5	1	3	1	2	0	5	2	5	1	1	2	1	2	1	2	5	6	rs113304621	byFrequency	TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:160826660G>A	ENST00000283243.7	-	18	2865	c.2660_splice	c.e18+1	p.R887_splice	PLA2R1_ENST00000392771.1_Splice_Site_p.R887_splice	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	887	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R887C(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTTCATACCGAAATTCATCA	0.318													10	31					0	0	0	0	A	160826660	G	A	160826660	5	1	378	1	0	0	0	0	0	0	1	0	12082	1072	37	1	1792	1	PLA2R1	2	160826660	Splice_Site	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	8718786	160826660	82372713	16	72629											
XIRP2	129446	broad.mit.edu	37	chr2	168099555	168099555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgaaaacacaaatgaCagttctcaaaaagatctgaa	18	11	6	6	0	2	4	1	3	2	1	3	4	2	4	0	0	1	2	0	0	6	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:168099555C>A	ENST00000409195.1	+	9	1742	c.1653C>A	c.(1651-1653)gaC>gaA	p.D551E	XIRP2_ENST00000295237.9_Missense_Mutation_p.D551E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D329E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	376					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACACAAATGACAGTTCTCAAA	0.398													9	13					2.17888e-05	2.23035e-05	1	0	A	168099555	C	A	168099555	3	1	378	1	0	0	0	0	1	0	0	0	17526	477	17	4	1683	4	XIRP2	2	168099555	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	7272895	168099555	75099818	17	72630											
EPHA4	2043	broad.mit.edu	37	chr2	222294710	222294710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgtcctcttcaagctGttggggttgcggatgagttt	4	15	13	9	1	2	1	1	1	1	0	4	2	4	2	2	3	2	4	2	3	1	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:222294710G>C	ENST00000281821.2	-	15	2699	c.2658C>G	c.(2656-2658)aaC>aaG	p.N886K	EPHA4_ENST00000409938.1_Missense_Mutation_p.N886K|EPHA4_ENST00000392071.4_Missense_Mutation_p.N835K|EPHA4_ENST00000409854.1_Missense_Mutation_p.N886K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	886						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCTTCAAGCTGTTGGGGTTGC	0.507													5	166					0	0	0	0	C	222294710	G	C	222294710	3	2	378	1	0	0	0	0	1	0	0	0	5207	1368	48	4	314	4	EPHA4	2	222294710	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	54195155	222294710	20904663	18	72631											
ERC2	26059	broad.mit.edu	37	chr3	56468653	56468653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctggtggtggtgatgatggGatgagccagtcagcccacca	8	8	15	10	0	1	3	1	3	0	0	1	4	1	4	4	4	2	0	4	4	0	0			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:56468653G>C	ENST00000288221.6	-	2	638	c.383C>G	c.(382-384)tCc>tGc	p.S128C		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	128						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGATGATGGGATGAGCCAGT	0.507													55	49					0	0	0	0	C	56468653	G	C	56468653	3	2	378	1	0	0	0	0	1	0	0	0	5249	1174	41	2	2544	2	ERC2	3	56468653	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08		56468653	141553777	19	72632											
ZPLD1	131368	broad.mit.edu	37	chr3	102171763	102171763	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatatatttttatttcagCtgaaagagacatcagtgtct	12	18	6	5	0	3	2	2	1	1	1	3	3	3	2	0	0	1	1	0	0	5	8			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:102171763C>A	ENST00000306176.1	+	3	255	c.154_splice	c.e3-1	p.A52_splice	ZPLD1_ENST00000491959.1_Splice_Site_p.A36_splice|ZPLD1_ENST00000466937.1_Splice_Site_p.A36_splice	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	36	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTTATTTCAGCTGAAAGAGAC	0.328													26	14					2.48779e-11	2.71776e-11	1	0	A	102171763	C	A	102171763	5	1	378	1	0	0	0	0	0	0	1	0	18314	811	28	4	165	4	ZPLD1	3	102171763	Splice_Site	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	45703110	102171763	95850667	20	72633											
BBX	56987	broad.mit.edu	37	chr3	107447670	107447670	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtgtcctaccacaaacaAgcctgtgaaatccccaacac	14	7	6	14	0	0	1	0	1	0	0	2	1	2	1	5	1	4	0	5	1	5	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:107447670A>G	ENST00000415149.2	+	6	791	c.464A>G	c.(463-465)aAg>aGg	p.K155R	BBX_ENST00000406780.1_Missense_Mutation_p.K155R|BBX_ENST00000402543.1_Missense_Mutation_p.K155R|BBX_ENST00000325805.8_Missense_Mutation_p.K155R|BBX_ENST00000416476.2_Missense_Mutation_p.K155R	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCACAAACAAGCCTGTGAAA	0.408													110	172					0	0	0	0	G	107447670	A	G	107447670	3	3	378	1	0	0	0	0	1	0	0	0	1347	72	3	5	474	5	BBX	3	107447670	Missense_Mutation	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08	5275907	107447670	90574760	21	72634											
TMEM39A	55254	broad.mit.edu	37	chr3	119156860	119156860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcactttcctctactgcCtcgtgctgaaccacatagtt	8	12	8	13	1	1	1	0	1	1	0	3	2	2	1	3	1	4	3	3	1	3	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:119156860C>T	ENST00000319172.5	-	6	1086	c.666G>A	c.(664-666)gaG>gaA	p.E222E	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	222						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CCTCTACTGCCTCGTGCTGAA	0.433													15	28					0	0	0	0	T	119156860	C	T	119156860	2	4	378	1	0	0	0	0	0	0	0	1	16255	680	24	4		4	TMEM39A	3	119156860	Silent	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	11709190	119156860	78865570	22	72635											
ZXDC	79364	broad.mit.edu	37	chr3	126180392	126180392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataccaaatagaagttgcCagtgcctgcactgagctctg	11	10	9	11	0	2	2	1	1	1	1	2	2	2	2	3	0	5	3	3	0	4	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:126180392C>T	ENST00000389709.3	-	6	2166	c.2113G>A	c.(2113-2115)Ggc>Agc	p.G705S	ZXDC_ENST00000336332.5_Missense_Mutation_p.G705S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	705					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TAGAAGTTGCCAGTGCCTGCA	0.517													15	30					0	0	0	0	T	126180392	C	T	126180392	3	4	378	1	0	0	0	0	1	0	0	0	18343	594	21	4	489	4	ZXDC	3	126180392	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	7023532	126180392	71842038	23	72636											
COL6A6	131873	broad.mit.edu	37	chr3	130285695	130285695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaggtgcgggttggggccGttcagtatgctgacagctgg	7	10	17	7	2	1	1	1	1	0	0	1	1	1	1	1	5	3	5	1	5	2	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:130285695G>A	ENST00000358511.6	+	4	1463	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	478	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTTGGGGCCGTTCAGTATGC	0.498													4	162					0	0	0	0	A	130285695	G	A	130285695	3	1	378	1	0	0	0	0	1	0	0	0	3733	1145	40	1	1446	1	COL6A6	3	130285695	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	4105303	130285695	67736735	24	72637											
SLCO2A1	6578	broad.mit.edu	37	chr3	133698375	133698375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaactggagagcccaaagcGcttctcaatggtggtgaggc	11	7	14	9	1	1	3	1	1	1	2	2	4	1	3	1	4	3	1	1	4	3	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:133698375G>A	ENST00000310926.4	-	2	457	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R62C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	62					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGCCCAAAGCGCTTCTCAATG	0.557													13	138					0	0	0	0	A	133698375	G	A	133698375	3	1	378	1	0	0	0	0	1	0	0	0	14814	1087	38	1	1799	1	SLCO2A1	3	133698375	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	3412680	133698375	64324055	25	72638											
LDB2	9079	broad.mit.edu	37	chr4	16590360	16590360	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaggatgcttctcgggacTaactctcggtattgtctaat	8	14	10	9	2	3	0	0	0	3	0	5	2	3	2	0	3	2	3	0	3	4	6			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:16590360T>C	ENST00000502640.1	-	4	652	c.504A>G	c.(502-504)ttA>ttG	p.L168L	LDB2_ENST00000304523.5_Silent_p.L168L|LDB2_ENST00000503178.2_Silent_p.L44L|LDB2_ENST00000515064.1_Silent_p.L168L|LDB2_ENST00000441778.2_Silent_p.L168L|LDB2_ENST00000503829.1_5'UTR			O43679	LDB2_HUMAN	LIM domain binding 2	168							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTCTCGGGACTAACTCTCGGT	0.393													32	26					0	0	0	0	C	16590360	T	C	16590360	2	2	378	1	0	0	0	0	0	0	0	1	8749	1519	53	5		5	LDB2	4	16590360	Silent	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08		16590360	174563916	26	72639											
ANKRD17	26057	broad.mit.edu	37	chr4	74014589	74014589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagctgcttccatcaatGgtgtataaccttcatcattg	9	14	7	11	1	3	0	3	0	0	0	5	1	4	0	2	1	3	3	2	1	3	5			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:74014589G>A	ENST00000358602.4	-	8	1624	c.1508C>T	c.(1507-1509)cCa>cTa	p.P503L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P390L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P503L|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	503					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCCATCAATGGTGTATAACC	0.423													20	42					0	0	0	0	A	74014589	G	A	74014589	3	1	378	1	0	0	0	0	1	0	0	0	646	1348	47	4	6411	4	ANKRD17	4	74014589	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	57424229	74014589	117139687	27	72640											
SMARCAD1	56916	broad.mit.edu	37	chr4	95174149	95174149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccggccctttaatagttgGgaggctctggtaaggcttta	7	13	12	9	1	1	0	0	0	1	0	2	1	2	1	2	5	0	4	2	5	4	7			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:95174149G>C	ENST00000354268.4	+	9	1345	c.1272G>C	c.(1270-1272)tgG>tgC	p.W424C	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.W424C			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	424					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTAATAGTTGGGAGGCTCTGG	0.408													112	33					0	0	0	0	C	95174149	G	C	95174149	3	2	378	1	0	0	0	0	1	0	0	0	14860	1241	43	4	1302	4	SMARCAD1	4	95174149	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	21159560	95174149	95980127	28	72641											
UNC5C	8633	broad.mit.edu	37	chr4	96091388	96091388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgctacagagcttctgCcggatagggagagggatgct	9	8	16	8	1	1	2	0	0	1	2	1	5	1	4	1	4	5	4	1	4	2	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:96091388C>T	ENST00000453304.1	-	15	2895	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	849					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGAGCTTCTGCCGGATAGGGA	0.602													5	434					0	0	0	0	T	96091388	C	T	96091388	2	4	378	1	0	0	0	0	0	0	0	1	17089	726	26	4		4	UNC5C	4	96091388	Silent	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	917239	96091388	95062888	29	72642											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99313207	99313207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacagaaatgtgtcttgttGcatttggtaatttagcagaa	12	16	9	4	0	1	2	0	0	1	2	1	2	1	2	0	1	3	4	0	1	5	7			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:99313207G>T	ENST00000408927.3	+	6	726	c.613G>T	c.(613-615)Gca>Tca	p.A205S	RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A156S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A157S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A206S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A206S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	205							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTGTCTTGTTGCATTTGGTAA	0.343			T	NUP98	T-ALL								9	24					3.09899e-07	3.22294e-07	1	0	T	99313207	G	T	99313207	3	4	378	1	0	0	0	0	1	0	0	0	13121	1319	46	4	638	4	RAP1GDS1	4	99313207	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	3221819	99313207	91841069	30	72643											
CAMK2D	817	broad.mit.edu	37	chr4	114436283	114436283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtttggcagggttgataGtaagcattttattgatgagg	9	15	14	3	1	0	3	0	3	0	0	0	3	0	3	0	3	2	5	0	3	3	7			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:114436283G>C	ENST00000454265.2	-	10	1619	c.761C>G	c.(760-762)aCt>aGt	p.T254S	CAMK2D_ENST00000429180.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000508738.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000379773.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000394526.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000511664.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000394522.3_Missense_Mutation_p.T254S|CAMK2D_ENST00000515496.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000394524.3_Missense_Mutation_p.T254S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000342666.5_Missense_Mutation_p.T254S|CAMK2D_ENST00000296402.5_Missense_Mutation_p.T254S|CAMK2D_ENST00000514328.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.T254S			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	254	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AGGGTTGATAGTAAGCATTTT	0.368													28	123					0	0	0	0	C	114436283	G	C	114436283	3	2	378	1	0	0	0	0	1	0	0	0	2626	1029	36	4	869	4	CAMK2D	4	114436283	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	15123076	114436283	76717993	31	72644											
GRIA2	2891	broad.mit.edu	37	chr4	158281241	158281241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgacaccatgaaagttggtgGaaacctggattccaaaggct	13	8	11	9	1	0	1	0	1	0	0	1	4	1	3	3	4	1	2	3	4	3	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:158281241G>T	ENST00000296526.7	+	13	2562	c.2237G>T	c.(2236-2238)gGa>gTa	p.G746V	GRIA2_ENST00000507898.1_Missense_Mutation_p.G699V|GRIA2_ENST00000393815.2_Missense_Mutation_p.G699V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G699V|GRIA2_ENST00000264426.9_Missense_Mutation_p.G746V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	746					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAAGTTGGTGGAAACCTGGAT	0.438													10	20					2.17888e-05	2.23035e-05	1	0	T	158281241	G	T	158281241	3	4	378	1	0	0	0	0	1	0	0	0	6818	1174	41	2	2287	2	GRIA2	4	158281241	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	43844958	158281241	32873035	32	72645											
WWC2	80014	broad.mit.edu	37	chr4	184166648	184166648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaacagaactaaaatctAtcagaaaggcaattagctca	18	10	5	8	0	4	2	2	0	2	2	4	2	4	2	0	1	3	2	0	1	8	5			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:184166648A>G	ENST00000403733.3	+	6	881	c.682A>G	c.(682-684)Atc>Gtc	p.I228V	WWC2_ENST00000504005.1_Intron|WWC2_ENST00000513834.1_Missense_Mutation_p.I228V|WWC2_ENST00000448232.2_Missense_Mutation_p.I228V|WWC2_ENST00000378925.3_Missense_Mutation_p.I130V	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	228										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACTAAAATCTATCAGAAAGGC	0.373													7	10					0	0	0	0	G	184166648	A	G	184166648	3	3	378	1	0	0	0	0	1	0	0	0	17508	449	16	5	704	5	WWC2	4	184166648	Missense_Mutation	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08	25885407	184166648	6987628	33	72646											
CARD6	84674	broad.mit.edu	37	chr5	40854448	40854448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctccccagtctaagccttCtcagcccagaccccctcaac	8	7	5	21	0	3	1	2	0	2	1	5	1	4	1	7	0	3	0	7	0	2	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:40854448C>G	ENST00000254691.5	+	3	3213	c.3014C>G	c.(3013-3015)tCt>tGt	p.S1005C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	1005	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTAAGCCTTCTCAGCCCAGA	0.527													155	636					0	0	0	0	G	40854448	C	G	40854448	3	3	378	1	0	0	0	0	1	0	0	0	2675	913	32	2	3024	2	CARD6	5	40854448	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08		40854448	140060812	34	72647											
BDP1	55814	broad.mit.edu	37	chr5	70786870	70786870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagtaaggagcagatgCtttcctgcacacaaaacata	16	8	8	9	0	0	1	0	0	0	1	1	2	1	2	1	1	5	5	1	1	5	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:70786870C>G	ENST00000358731.4	+	11	1815	c.1552C>G	c.(1552-1554)Ctt>Gtt	p.L518V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	518					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGAGCAGATGCTTTCCTGCAC	0.388													31	50					0	0	0	0	G	70786870	C	G	70786870	3	3	378	1	0	0	0	0	1	0	0	0	1399	797	28	4	1594	4	BDP1	5	70786870	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	29932422	70786870	110128390	35	72648											
HAPLN1	1404	broad.mit.edu	37	chr5	82937489	82937489	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcggtcatatccgagaatTttccaggcagcaaatatctg	12	10	9	10	2	2	1	1	0	1	1	4	2	4	1	2	2	2	2	2	2	4	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:82937489T>A	ENST00000274341.4	-	5	1741	c.891A>T	c.(889-891)aaA>aaT	p.K297N		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	297	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATCCGAGAATTTTCCAGGCAG	0.547													5	190					0	0	0	0	A	82937489	T	A	82937489	3	1	378	1	0	0	0	0	1	0	0	0	7004	1838	64	5	177	5	HAPLN1	5	82937489	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	12150619	82937489	97977771	36	72649											
NSD1	64324	broad.mit.edu	37	chr5	176710861	176710861	+	Frame_Shift_Del	DEL	A	A	-																															ttgctgccagcccaactgtgAaacacagaagtggtctgtga																										TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:176710861delA	ENST00000439151.2	+	20	6128	c.6083delA	c.(6082-6084)gafs	p.E2028fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.E1759fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.E1759fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.E1925fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2028	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCAACTGTGAAACACAGAAG	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			62	43	---	---	---	---					-	176710861	A	-	176710861	7	5	378	1	0	1	0	1	0	0	0	0	10740	246	9	0	6157	0	NSD1	5	176710861	Frame_Shift_Del	DEL	A	TCGA-D6-A6EO-01A-11D-A31L-08	93773372	176710861	4204399	37	72650											
OR2H1	26716	broad.mit.edu	37	chr6	29429615	29429615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaacacccagcactggaaagGactctctttgtggttgtctt	9	12	10	10	0	2	0	0	0	2	0	3	3	2	2	1	3	2	2	1	3	2	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:29429615G>A	ENST00000377136.1	+	4	534	c.69G>A	c.(67-69)agG>agA	p.R23R	OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000377133.1_Silent_p.R23R|OR2H1_ENST00000442615.1_Silent_p.R23R|OR2H1_ENST00000377132.1_Silent_p.R23R|OR2H1_ENST00000396792.2_Silent_p.R23R			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CACTGGAAAGGACTCTCTTTG	0.532													47	102					0	0	0	0	A	29429615	G	A	29429615	2	1	378	1	0	0	0	0	0	0	0	1	11072	1165	41	2		2	OR2H1	6	29429615	Silent	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08		29429615	141685452	38	72651											
MDC1	9656	broad.mit.edu	37	chr6	30681696	30681696	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaaagggcagagagacaTccaggcgatggtactggcag	14	4	15	8	1	0	3	0	0	0	3	1	5	1	3	1	4	1	3	1	4	2	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:30681696T>A	ENST00000376406.3	-	3	1048	c.401A>T	c.(400-402)gAt>gTt	p.D134V	MDC1_ENST00000376405.2_Missense_Mutation_p.D134V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	134	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CAGAGAGACATCCAGGCGATG	0.557								Other conserved DNA damage response genes					21	66					0	0	0	0	A	30681696	T	A	30681696	3	1	378	1	0	0	0	0	1	0	0	0	9472	1435	50	5	5920	5	MDC1	6	30681696	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	1252081	30681696	140433371	39	72652											
CDC5L	988	broad.mit.edu	37	chr6	44387238	44387238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacaccccattgaaaggtgGacttaataccccattgcatg	12	9	9	11	0	0	1	0	1	0	0	0	3	0	3	4	3	2	1	4	3	3	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:44387238G>T	ENST00000371477.3	+	9	1444	c.1145G>T	c.(1144-1146)gGa>gTa	p.G382V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	382	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGAAAGGTGGACTTAATACC	0.443													19	52					1.01871e-10	1.10361e-10	1	0	T	44387238	G	T	44387238	3	4	378	1	0	0	0	0	1	0	0	0	3111	1174	41	2	1179	2	CDC5L	6	44387238	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	13705542	44387238	126727829	40	72653											
PHF3	23469	broad.mit.edu	37	chr6	64423032	64423032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggctttggctttgctcaaAatcccatggttccctggcca	7	12	9	13	0	1	0	1	0	0	0	3	0	3	0	3	4	1	4	3	4	2	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:64423032A>T	ENST00000262043.3	+	16	5888	c.5548A>T	c.(5548-5550)Aat>Tat	p.N1850Y	PHF3_ENST00000393387.1_Missense_Mutation_p.N1850Y			Q92576	PHF3_HUMAN	PHD finger protein 3	1850	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTTGCTCAAAATCCCATGGT	0.512													66	107					0	0	0	0	T	64423032	A	T	64423032	3	4	378	1	0	0	0	0	1	0	0	0	11908	14	1	5	5606	5	PHF3	6	64423032	Missense_Mutation	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08	20035794	64423032	106692035	41	72654											
VNN1	8876	broad.mit.edu	37	chr6	133014187	133014187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattttctttgaggggtaatGtatgttggatgcaaggaaat	11	15	12	3	0	1	1	0	1	1	0	1	3	1	3	0	4	1	4	0	4	4	6			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:133014187G>A	ENST00000367928.4	-	4	815	c.802C>T	c.(802-804)Cat>Tat	p.H268Y		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	268	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GAGGGGTAATGTATGTTGGAT	0.388													10	20					0	0	0	0	A	133014187	G	A	133014187	3	1	378	1	0	0	0	0	1	0	0	0	17278	1377	48	4	755	4	VNN1	6	133014187	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	68591155	133014187	38100880	42	72655											
ESR1	2099	broad.mit.edu	37	chr6	152163816	152163816	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatggctatggaatctgcCaaggagactcgctactgtgc	10	10	12	9	1	1	1	0	0	1	1	2	3	1	2	1	3	3	3	1	3	5	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:152163816C>A	ENST00000440973.1	+	4	907	c.537C>A	c.(535-537)gcC>gcA	p.A179A	ESR1_ENST00000456483.2_Silent_p.A179A|ESR1_ENST00000206249.3_Silent_p.A179A|ESR1_ENST00000443427.1_Silent_p.A179A|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000544394.1_Silent_p.A6A|ESR1_ENST00000338799.5_Silent_p.A179A	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	179	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TGGAATCTGCCAAGGAGACTC	0.498													12	50					0.00010058	0.000102151	1	0	A	152163816	C	A	152163816	2	1	378	1	0	0	0	0	0	0	0	1	5294	581	21	4		4	ESR1	6	152163816	Silent	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	19149629	152163816	18951251	43	72656											
SLC22A2	6582	broad.mit.edu	37	chr6	160671714	160671714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaggactgtagttaggAggcagagcttacggccaaac	12	9	13	7	1	0	2	0	1	0	1	0	4	0	4	1	4	3	4	1	4	5	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:160671714A>G	ENST00000366952.1	-	5	1957	c.476T>C	c.(475-477)cTc>cCc	p.L159P	SLC22A2_ENST00000366953.3_Missense_Mutation_p.L180P|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	180					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGTAGTTAGGAGGCAGAGCTT	0.418													31	74					0	0	0	0	G	160671714	A	G	160671714	3	3	378	1	0	0	0	0	1	0	0	0	14539	304	11	5	1164	5	SLC22A2	6	160671714	Missense_Mutation	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08	8507898	160671714	10443353	44	72657											
PON3	5446	broad.mit.edu	37	chr7	94989436	94989436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacaaaacattctggatgCgaagtacctgtcgagaaaag	16	7	10	8	2	1	2	0	0	1	2	2	5	1	3	1	1	3	1	1	1	6	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:94989436C>T	ENST00000265627.5	-	9	924	c.914G>A	c.(913-915)cGc>cAc	p.R305H	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.A235T	NM_000940.2	NP_000931.1			paraoxonase 3									p.R305H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTCTGGATGCGAAGTACCTG	0.438													26	119					0	0	0	0	T	94989436	C	T	94989436	3	4	378	1	0	0	0	0	1	0	0	0	12322	768	27	1	154	1	PON3	7	94989436	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08		94989436	64149227	45	72658											
BCAP29	55973	broad.mit.edu	37	chr7	107234468	107234468	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagctccaccagcagacctGatgcctatgaacacacacag	14	5	8	14	0	0	4	0	2	0	2	1	4	1	4	4	0	4	2	4	0	2	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:107234468G>A	ENST00000379121.2	+	0	2				BCAP29_ENST00000379117.2_Missense_Mutation_p.D88N|BCAP29_ENST00000005259.4_Missense_Mutation_p.D88N|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379119.2_Missense_Mutation_p.D88N|BCAP29_ENST00000465919.1_De_novo_Start_OutOfFrame|BCAP29_ENST00000445771.2_Missense_Mutation_p.D88N			Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CAGCAGACCTGATGCCTATGA	0.343													100	44					0	0	0	0	A	107234468	G	A	107234468	1	1	378	1	0	0	0	0	0	0	0	0	1350	1290	45	2		2	BCAP29	7	107234468	Translation_Start_Site	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	12245032	107234468	51904195	46	72659											
CTTNBP2	83992	broad.mit.edu	37	chr7	117407215	117407215	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccctccgtgcctacacaAgatttctaggcagttctata	11	11	7	12	1	2	1	0	0	2	1	3	1	3	1	3	1	3	2	3	1	6	6			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:117407215A>G	ENST00000160373.3	-	9	2885	c.2794T>C	c.(2794-2796)Ttg>Ctg	p.L932L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	932										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCTACACAAGATTTCTAGG	0.438													27	15					0	0	0	0	G	117407215	A	G	117407215	2	3	378	1	0	0	0	0	0	0	0	1	4077	69	3	5		5	CTTNBP2	7	117407215	Silent	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08	10172747	117407215	41731448	47	72660											
PTPRZ1	5803	broad.mit.edu	37	chr7	121679547	121679547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcctgccgatgggagtgagGagtacgggaactttctggtc	7	9	17	8	2	1	1	0	1	1	0	2	5	1	4	2	5	3	1	2	5	2	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:121679547G>C	ENST00000393386.2	+	20	5953	c.5542G>C	c.(5542-5544)Gag>Cag	p.E1848Q	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E981Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1848	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						TGGGAGTGAGGAGTACGGGAA	0.393													14	15					0	0	0	0	C	121679547	G	C	121679547	3	2	378	1	0	0	0	0	1	0	0	0	12896	1175	41	2	5620	2	PTPRZ1	7	121679547	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	4272332	121679547	37459116	48	72661											
GIMAP6	474344	broad.mit.edu	37	chr7	150324890	150324890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtccttccagccaagactCctcaccaggcacgtcctcag	9	7	7	18	1	2	1	2	0	0	1	6	1	6	1	6	1	1	1	6	1	1	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:150324890C>G	ENST00000328902.5	-	3	1012	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	266							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCAAGACTCCTCACCAGGC	0.537													30	27					0	0	0	0	G	150324890	C	G	150324890	3	3	378	1	0	0	0	0	1	0	0	0	6434	864	30	2	86	2	GIMAP6	7	150324890	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	28645343	150324890	8813773	49	72662											
GIMAP6	474344	broad.mit.edu	37	chr7	150325213	150325213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgggtgaacaccaggatgGtgtgacccagaacccccact	10	6	11	14	1	0	3	0	2	0	1	1	4	1	4	5	3	2	0	5	3	2	0			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:150325213G>T	ENST00000328902.5	-	3	689	c.473C>A	c.(472-474)aCc>aAc	p.T158N	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	158							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGGATGGTGTGACCCAG	0.622													49	42					1.38658e-30	1.58118e-30	1	0	T	150325213	G	T	150325213	3	4	378	1	0	0	0	0	1	0	0	0	6434	1261	44	4	409	4	GIMAP6	7	150325213	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	323	150325213	8813450	50	72663											
USP17L2	377630	broad.mit.edu	37	chr8	11995582	11995582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttgcttgacactctgagCtgcctggatatccagggcga	8	10	12	11	1	1	2	0	2	1	0	2	4	2	3	2	2	4	3	2	2	1	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:11995582C>A	ENST00000333796.3	-	1	1004	c.688G>T	c.(688-690)Gct>Tct	p.A230S	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	230					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACACTCTGAGCTGCCTGGATA	0.522													17	51					2.35188e-11	2.59106e-11	1	0	A	11995582	C	A	11995582	3	1	378	1	0	0	0	0	1	0	0	0	17144	797	28	4	908	4	USP17L2	8	11995582	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08		11995582	134368440	51	72664											
AZIN1	51582	broad.mit.edu	37	chr8	103842123	103842123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accataaacaccatcattcaTataatacatgaaggctggtt	16	11	5	9	0	2	1	2	1	0	0	2	1	2	1	2	2	2	2	2	2	6	6			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:103842123T>C	ENST00000337198.5	-	10	2109	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	AZIN1_ENST00000347770.4_Missense_Mutation_p.M316V	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	316					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CCATCATTCATATAATACATG	0.333													34	94					0	0	0	0	C	103842123	T	C	103842123	3	2	378	1	0	0	0	0	1	0	0	0	1246	1406	49	5	412	5	AZIN1	8	103842123	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	91846541	103842123	42521899	52	72665											
ATAD2	29028	broad.mit.edu	37	chr8	124382228	124382228	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcatcttcaccatcaTcttcatgttcttggtcttca	7	18	3	13	0	10	0	5	0	5	0	10	0	10	0	1	1	0	1	1	1	0	6			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:124382228T>A	ENST00000287394.5	-	7	871	c.764A>T	c.(763-765)gAt>gTt	p.D255V	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	255	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ttcaccatcatcttcatGTTC	0.348													29	23					0	0	0	0	A	124382228	T	A	124382228	3	1	378	1	0	0	0	0	1	0	0	0	1075	1435	50	5	3496	5	ATAD2	8	124382228	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	20540105	124382228	21981794	53	72666											
BAI1	575	broad.mit.edu	37	chr8	143603386	143603386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgtcctccttctgctggGtgctcaccgaggcctggcag	3	11	12	15	1	2	0	1	0	1	0	5	1	5	0	5	3	2	3	5	3	0	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:143603386G>A	ENST00000517894.1	+	21	3979	c.3085G>A	c.(3085-3087)Gtg>Atg	p.V1029M	BAI1_ENST00000323289.5_Missense_Mutation_p.V1029M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1029					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTCTGCTGGGTGCTCACCGA	0.692													17	37					0	0	0	0	A	143603386	G	A	143603386	3	1	378	1	0	0	0	0	1	0	0	0	1302	1261	44	4	3163	4	BAI1	8	143603386	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	19221158	143603386	2760636	54	72667											
DAPK1	1612	broad.mit.edu	37	chr9	90113996	90113996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtgacagtttatcatgAccgtgttcaggcaggaaaac	12	9	12	8	2	2	2	2	2	0	0	2	3	2	3	1	3	1	3	1	3	3	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr9:90113996A>G	ENST00000469640.2	+	2	379	c.4A>G	c.(4-6)Acc>Gcc	p.T2A	DAPK1_ENST00000472284.1_Missense_Mutation_p.T2A|DAPK1_ENST00000408954.3_Missense_Mutation_p.T2A|DAPK1_ENST00000358077.5_Missense_Mutation_p.T2A|DAPK1_ENST00000491893.1_Missense_Mutation_p.T2A			P53355	DAPK1_HUMAN	death-associated protein kinase 1	2					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTTTATCATGACCGTGTTCAG	0.572									Chronic Lymphocytic Leukemia, Familial Clustering of				12	18					0	0	0	0	G	90113996	A	G	90113996	3	3	378	1	0	0	0	0	1	0	0	0	4268	275	10	5	6	5	DAPK1	9	90113996	Missense_Mutation	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08		90113996	51099435	55	72668											
PTCH1	5727	broad.mit.edu	37	chr9	98224262	98224263	+	Frame_Shift_Ins	INS	-	-	A																															cccggtttcccagtcactgtINScaaatgcatcctgaagtcct																										TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr9:98224262_98224263insA	ENST00000430669.2	-	16	2965_2966	c.2380_2381insT	c.(2380-2382)cagfs	p.Q794fs	PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.Q794fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.Q860fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.Q859fs			Q13635	PTC1_HUMAN	patched 1	860					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGTCACTGTCAAATGCATCC	0.5													81	40	---	---	---	---					A	98224263	-	A	98224262	7	5	378	1	0	1	1	0	0	0	0	0	12809	1667	58	0	1796	0	PTCH1	9	98224262	Frame_Shift_Ins	INS	-	TCGA-D6-A6EO-01A-11D-A31L-08	8110266	98224262	42989169	56	72669											
AIF1L	83543	broad.mit.edu	37	chr9	133987042	133987042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttccagaaaagctcacagCcttcaaaggtaagctggggc	12	7	10	12	0	2	1	2	0	0	1	3	1	3	1	3	3	3	3	3	3	4	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr9:133987042C>G	ENST00000372309.3	+	4	384	c.230C>G	c.(229-231)gCc>gGc	p.A77G	AIF1L_ENST00000372302.1_Missense_Mutation_p.A51G|AIF1L_ENST00000247291.3_Missense_Mutation_p.A51G|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000372298.1_Missense_Mutation_p.A51G|AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372300.1_Missense_Mutation_p.A51G|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.A56G	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	51	EF-hand 1.					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding			lung(2)	2						AAGCTCACAGCCTTCAAAGGT	0.567													14	234					0	0	0	0	G	133987042	C	G	133987042	3	3	378	1	0	0	0	0	1	0	0	0	425	739	26	4	244	4	AIF1L	9	133987042	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	35762780	133987042	7226389	57	72670											
PCDH15	65217	broad.mit.edu	37	chr10	55582405	55582405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttccaaggaacactcaGcaggagaactgatgacatta	17	7	9	8	0	1	3	1	2	0	1	2	5	2	4	1	2	3	2	1	2	5	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr10:55582405G>A	ENST00000361849.3	-	34	5481	c.5087C>T	c.(5086-5088)gCt>gTt	p.A1696V	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1694V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1654V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1625V|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1691V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1671V|PCDH15_ENST00000395446.1_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	1694					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAACACTCAGCAGGAGAACT	0.418										HNSCC(58;0.16)			19	54					0	0	0	0	A	55582405	G	A	55582405	3	1	378	1	0	0	0	0	1	0	0	0	11582	971	34	4	2396	4	PCDH15	10	55582405	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08		55582405	79952342	58	72671											
DLG5	9231	broad.mit.edu	37	chr10	79613112	79613114	+	Splice_Site	DEL	CTG	CTG	-																															tctccaggggctgggcctacCtgctgctgctgggcacggag																										TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr10:79613112_79613114delCTG	ENST00000372391.2	-	5	867_869	c.864_splice	c.e5+1	p.Q288_splice	DLG5_ENST00000372388.2_Splice_Site_p.Q288_splice	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	288					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ctgggCCTACCTGCTGCTGCTGG	0.576													2	4	---	---	---	---					-	79613114	CTG	-	79613112	8	5	378	1	0	1	0	1	0	0	1	0	4595	695	24	0	5007	0	DLG5	10	79613112	Splice_Site	DEL	CTG	TCGA-D6-A6EO-01A-11D-A31L-08	24030707	79613112	55921635	59	72672											
OR52W1	120787	broad.mit.edu	37	chr11	6220873	6220873	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcactaccctgtcctGgtcaccaaagcctgtgtggg	7	9	10	15	0	1	0	1	0	0	0	2	0	2	0	5	2	3	1	5	2	2	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:6220873G>T	ENST00000311352.2	+	1	498	c.420G>T	c.(418-420)ctG>ctT	p.L140L		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTGTCCTGGTCACCAAAG	0.542													17	22					6.94344e-10	7.4599e-10	1	0	T	6220873	G	T	6220873	2	4	378	1	0	0	0	0	0	0	0	1	11203	1335	47	4		4	OR52W1	11	6220873	Silent	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08		6220873	128785643	60	72673											
DNHD1	144132	broad.mit.edu	37	chr11	6520037	6520037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagctacagcgctgcctgGgcattgttggtgctcaggtg	5	11	15	10	1	1	1	1	1	0	0	1	1	1	1	1	3	5	5	1	3	1	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:6520037G>A	ENST00000254579.6	+	3	1156	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	DNHD1_ENST00000527990.2_Missense_Mutation_p.G198S|DNHD1_ENST00000354685.3_Missense_Mutation_p.G198S	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	198					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCGCTGCCTGGGCATTGTTGG	0.592													61	102					0	0	0	0	A	6520037	G	A	6520037	3	1	378	1	0	0	0	0	1	0	0	0	4704	1232	43	4	594	4	DNHD1	11	6520037	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	299164	6520037	128486479	61	72674											
FNBP4	23360	broad.mit.edu	37	chr11	47753078	47753078	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccactgagactcgcccGactgttcgtttacatagaaa	11	10	7	13	3	0	2	0	1	0	2	3	4	1	2	2	0	1	2	2	0	3	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:47753078G>T	ENST00000263773.5	-	12	1868	c.1856C>A	c.(1855-1857)tCg>tAg	p.S619*		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	619	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGACTCGCCCGACTGTTCGTT	0.408													40	78					3.38236e-24	3.82353e-24	1	0	T	47753078	G	T	47753078	4	4	378	1	0	0	0	0	0	1	0	0	6012	1059	37	3	1221	3	FNBP4	11	47753078	Nonsense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	41233041	47753078	87253438	62	72675											
OR4C46	119749	broad.mit.edu	37	chr11	51515885	51515885	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattgctgccaacagtGgattcatctgcttgttaaac	9	15	7	10	0	4	0	2	0	2	0	4	1	4	1	1	1	5	3	1	1	3	5			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:51515885G>T	ENST00000328188.1	+	1	604	c.604G>T	c.(604-606)Gga>Tga	p.G202*		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGCCAACAGTGGATTCATCTG	0.483													33	51					6.04164e-23	6.77081e-23	1	0	T	51515885	G	T	51515885	4	4	378	1	0	0	0	0	0	1	0	0	11122	1349	47	4	606	4	OR4C46	11	51515885	Nonsense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	3762807	51515885	83490631	63	72676											
OR5AS1	219447	broad.mit.edu	37	chr11	55798044	55798044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttaataattctagttaaTattaattcaagccttcaaat	15	17	2	7	0	4	0	2	0	2	0	4	0	4	0	1	0	1	1	1	0	8	9			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:55798044T>A	ENST00000313555.1	+	1	150	c.150T>A	c.(148-150)aaT>aaA	p.N50K		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTCTAGTTAATATTAATTCAA	0.333													10	23					0	0	0	0	A	55798044	T	A	55798044	3	1	378	1	0	0	0	0	1	0	0	0	11217	1403	49	5	152	5	OR5AS1	11	55798044	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	4282159	55798044	79208472	64	72677											
OR9Q1	219956	broad.mit.edu	37	chr11	57946938	57946938	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcagagatgaacctcaccTtggtgaccgagttcctcctt	8	11	10	12	1	1	3	1	2	0	1	3	5	3	3	5	2	1	2	5	2	1	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:57946938T>G	ENST00000335397.3	+	3	338	c.22T>G	c.(22-24)Ttg>Gtg	p.L8V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAACCTCACCTTGGTGACCGA	0.438													36	71					0	0	0	0	G	57946938	T	G	57946938	3	3	378	1	0	0	0	0	1	0	0	0	11326	1606	56	5	24	5	OR9Q1	11	57946938	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	2148894	57946938	77059578	65	72678											
EEF1G	1937	broad.mit.edu	37	chr11	62334423	62334423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctgcttctcttcccGtgaacccttctctttccgtg	2	16	8	15	2	3	1	0	1	3	0	7	1	5	1	3	1	2	2	3	1	1	5			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:62334423G>A	ENST00000378019.3	-	7	952	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.R238W			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	238	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTCTTCCCGTGAACCCTTC	0.552													4	187					0	0	0	0	A	62334423	G	A	62334423	3	1	378	1	0	0	0	0	1	0	0	0	4964	1144	40	1	617	1	EEF1G	11	62334423	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	4387485	62334423	72672093	66	72679											
SIK3	23387	broad.mit.edu	37	chr11	116746969	116746969	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactccttcggagatacCtgcagtgtctgttctttgtc	5	15	8	13	1	2	1	0	0	2	1	6	2	4	1	3	1	2	2	3	1	1	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:116746969C>T	ENST00000375300.1	-	8	1100	c.1095_splice	c.e8+1	p.Q365_splice	SIK3_ENST00000542607.1_Splice_Site_p.Q307_splice|SIK3_ENST00000434315.2_Splice_Site_p.Q206_splice|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Splice_Site_p.Q307_splice|SIK3_ENST00000446921.2_Splice_Site_p.Q365_splice			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	307						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCGGAGATACCTGCAGTGTCT	0.483													29	52					0	0	0	0	T	116746969	C	T	116746969	5	4	378	1	0	0	0	0	0	0	1	0	14407	695	24	4	2934	4	SIK3	11	116746969	Splice_Site	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	54412546	116746969	18259547	67	72680											
PAFAH1B2	5049	broad.mit.edu	37	chr11	117038340	117038340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagggggctatgcaaagatCtgcaaacccctgcatgaact	12	7	12	10	0	1	2	0	1	1	1	1	3	1	3	2	3	5	4	2	3	4	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:117038340C>T	ENST00000527958.1	+	6	774	c.615C>T	c.(613-615)atC>atT	p.I205I	PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000529887.2_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	205					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		ATGCAAAGATCTGCAAACCCC	0.502			T	IGH@	MLCLS								5	23					0	0	0	0	T	117038340	C	T	117038340	2	4	378	1	0	0	0	0	0	0	0	1	11456	903	32	2		2	PAFAH1B2	11	117038340	Silent	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	291371	117038340	17968176	68	72681											
RNF214	257160	broad.mit.edu	37	chr11	117117602	117117602	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagagaaagagaagaaggaGtttttgcagaaggagcagga	18	6	15	2	0	0	4	0	0	0	4	0	9	0	7	0	3	2	3	0	3	5	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:117117602G>A	ENST00000530849.1	+	5	442	c.432G>A	c.(430-432)gaG>gaA	p.E144E	RNF214_ENST00000300650.4_Silent_p.E299E|RNF214_ENST00000531287.1_Silent_p.E144E|RNF214_ENST00000531452.1_Silent_p.E299E			Q8ND24	RN214_HUMAN	ring finger protein 214	299							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGAAGAAGGAGTTTTTGCAGA	0.388													43	82					0	0	0	0	A	117117602	G	A	117117602	2	1	378	1	0	0	0	0	0	0	0	1	13563	1020	36	4		4	RNF214	11	117117602	Silent	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	79262	117117602	17888914	69	72682											
ESAM	90952	broad.mit.edu	37	chr11	124624558	124624558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcacttccagcgtcaCattacattgggcagtgccca	8	11	9	13	1	2	0	2	0	0	0	3	0	3	0	2	1	4	2	2	1	1	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:124624558C>T	ENST00000278927.5	-	5	838	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	ESAM_ENST00000442070.2_Missense_Mutation_p.V58M	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	237	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		TCCAGCGTCACATTACATTGG	0.552													61	112					0	0	0	0	T	124624558	C	T	124624558	3	4	378	1	0	0	0	0	1	0	0	0	5285	478	17	4	475	4	ESAM	11	124624558	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	7506956	124624558	10381958	70	72683											
ATN1	1822	broad.mit.edu	37	chr12	7046137	7046137	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaatggccctccagtctcTtcctcttccaactcttcctc	5	13	3	20	0	3	0	0	0	3	0	9	0	7	0	6	1	1	0	6	1	2	3	rs143934146		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:7046137T>A	ENST00000356654.4	+	5	1944	c.1707T>A	c.(1705-1707)tcT>tcA	p.S569S	ATN1_ENST00000396684.2_Silent_p.S569S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	569	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCCAGTCTCTTCCTCTTCCA	0.632													40	111					0	0	0	0	A	7046137	T	A	7046137	2	1	378	1	0	0	0	0	0	0	0	1	1115	1596	56	5		5	ATN1	12	7046137	Silent	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08		7046137	126805758	71	72684											
CAPRIN2	65981	broad.mit.edu	37	chr12	30881830	30881830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaaggtgtccaagactttgGagtttgcttctttggatctt	7	16	12	6	0	2	1	0	0	2	1	3	4	3	4	1	4	1	2	1	4	2	5			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:30881830G>A	ENST00000251071.5	-	8	2284	c.1534C>T	c.(1534-1536)Cca>Tca	p.P512S	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P512S|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P512S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P512S|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P179S|CAPRIN2_ENST00000538387.1_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	512					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAAGACTTTGGAGTTTGCTTC	0.473													39	56					0	0	0	0	A	30881830	G	A	30881830	3	1	378	1	0	0	0	0	1	0	0	0	2661	1174	41	2	1893	2	CAPRIN2	12	30881830	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	23835693	30881830	102970065	72	72685											
YARS2	51067	broad.mit.edu	37	chr12	32903678	32903678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaatccaatccttctcGtccatgaacaagctttgtta	12	12	6	11	1	1	2	0	1	1	1	5	2	4	2	3	0	3	3	3	0	5	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:32903678G>C	ENST00000324868.8	-	3	1105	c.1078C>G	c.(1078-1080)Cga>Gga	p.R360G		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	360					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATCCTTCTCGTCCATGAACA	0.408													29	68					0	0	0	0	C	32903678	G	C	32903678	3	2	378	1	0	0	0	0	1	0	0	0	17564	1153	40	3	367	3	YARS2	12	32903678	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	2021848	32903678	100948217	73	72686											
LRRK2	120892	broad.mit.edu	37	chr12	40734100	40734100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcattttctggcagatacCtccactcagccatgattata	10	13	7	11	0	2	2	1	1	1	1	3	2	3	2	3	1	3	2	3	1	3	5			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:40734100C>G	ENST00000298910.7	+	41	6011	c.5953C>G	c.(5953-5955)Ctc>Gtc	p.L1985V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1985	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.L1985F(1)|p.L1992F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGGCAGATACCTCCACTCAGC	0.368													58	114					0	0	0	0	G	40734100	C	G	40734100	3	3	378	1	0	0	0	0	1	0	0	0	9097	681	24	4	6115	4	LRRK2	12	40734100	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	7830422	40734100	93117795	74	72687											
C12orf74	338809	broad.mit.edu	37	chr12	93100523	93100523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcctccagtttgaccGgcaagccccaggccgcatct	7	8	10	16	2	2	1	0	1	2	0	4	2	3	1	6	2	1	3	6	2	1	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:93100523G>A	ENST00000544406.2	+	2	382	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	C12orf74_ENST00000397833.3_Missense_Mutation_p.R39Q			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	39								p.R39L(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CAGTTTGACCGGCAAGCCCCA	0.627													17	49					0	0	0	0	A	93100523	G	A	93100523	3	1	378	1	0	0	0	0	1	0	0	0	1726	1116	39	1	118	1	C12orf74	12	93100523	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	52366423	93100523	40751372	75	72688											
MSI1	4440	broad.mit.edu	37	chr12	120784110	120784110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctggagggggagccatcGtccaggggtgagagcctggc	8	5	18	10	1	0	1	0	1	0	1	2	4	1	3	4	6	3	0	4	6	1	0			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:120784110G>A	ENST00000257552.2	-	13	963	c.875C>T	c.(874-876)aCg>aTg	p.T292M		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	292					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCCATCGTCCAGGGGTG	0.692													4	7					0	0	0	0	A	120784110	G	A	120784110	3	1	378	1	0	0	0	0	1	0	0	0	9945	1145	40	1	221	1	MSI1	12	120784110	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	27683587	120784110	13067785	76	72689											
SALL2	6297	broad.mit.edu	37	chr14	21991048	21991048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaacacaagtgaagagCggcccctccttggggtgggt	11	6	14	10	1	0	3	0	1	0	2	1	3	1	3	3	4	2	0	3	4	4	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr14:21991048C>T	ENST00000327430.3	-	2	3108	c.2814G>A	c.(2812-2814)ccG>ccA	p.P938P	SALL2_ENST00000450879.2_Silent_p.P801P|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	938							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AAGTGAAGAGCGGCCCCTCCT	0.607													23	46					0	0	0	0	T	21991048	C	T	21991048	2	4	378	1	0	0	0	0	0	0	0	1	13896	755	27	1		1	SALL2	14	21991048	Silent	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08		21991048	85358492	77	72690											
HEATR5A	25938	broad.mit.edu	37	chr14	31849768	31849768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaacacagcaaatcctctGctaatgtcataataatctat	16	11	4	10	0	3	1	1	0	2	1	4	1	4	1	1	0	3	2	1	0	6	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr14:31849768G>C	ENST00000543095.2	-	11	1797	c.1613C>G	c.(1612-1614)gCa>gGa	p.A538G	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A532G|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A245G|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A538G|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A532G	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	532							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAAATCCTCTGCTAATGTCAT	0.348													6	8					0	0	0	0	C	31849768	G	C	31849768	3	2	378	1	0	0	0	0	1	0	0	0	7081	1319	46	4	4631	4	HEATR5A	14	31849768	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	9858720	31849768	75499772	78	72691											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140535	3140535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggcgcaaggctctccCggcaccccaggactatctgc	7	6	12	16	2	2	0	0	0	2	0	3	2	2	1	3	4	1	3	3	4	2	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr16:3140535C>T	ENST00000252463.2	-	5	822	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ZSCAN10_ENST00000538082.2_Silent_p.P163P|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	245					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602													42	87					0	0	0	0	T	3140535	C	T	3140535	2	4	378	1	0	0	0	0	0	0	0	1	18320	639	23	1		1	ZSCAN10	16	3140535	Silent	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08		3140535	87214218	79	72692											
ACSM1	116285	broad.mit.edu	37	chr16	20693611	20693611	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtccagccacccttcaCggctgtgatcagacaccagg	10	6	11	14	1	2	2	2	1	0	1	3	3	3	3	4	3	1	1	4	3	1	1	rs146861278	byFrequency	TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr16:20693611C>T	ENST00000219151.4	-	0	645				ACSM1_ENST00000307493.4_Missense_Mutation_p.R193H|ACSM1_ENST00000520010.1_Missense_Mutation_p.R193H			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCACCCTTCACGGCTGTGATC	0.493													16	47					0	0	0	0	T	20693611	C	T	20693611	1	4	378	1	0	0	0	0	0	0	0	0	182	536	19	1		1	ACSM1	16	20693611	Translation_Start_Site	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	17553076	20693611	69661142	80	72693											
SRCAP	10847	broad.mit.edu	37	chr16	30744978	30744978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctgcttcatcctttcaaCtcggagtgggggtgtgggcg	5	13	14	9	2	3	0	2	0	1	0	5	1	4	1	1	4	2	1	1	4	1	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr16:30744978C>T	ENST00000262518.4	+	29	6738	c.6353C>T	c.(6352-6354)aCt>aTt	p.T2118I	SRCAP_ENST00000395059.2_Missense_Mutation_p.T2056I|SRCAP_ENST00000344771.4_Missense_Mutation_p.T1960I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2118	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATCCTTTCAACTCGGAGTGGG	0.507													40	71					0	0	0	0	T	30744978	C	T	30744978	3	4	378	1	0	0	0	0	1	0	0	0	15225	565	20	4	6459	4	SRCAP	16	30744978	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	10051367	30744978	59609775	81	72694											
HSD3B7	80270	broad.mit.edu	37	chr16	30998261	30998261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctaccgccagggcctgcGcctgggaggttggctcttcc	3	10	13	15	2	2	0	0	0	2	0	3	1	3	1	5	4	2	2	5	4	1	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr16:30998261G>A	ENST00000297679.5	+	6	725	c.632G>A	c.(631-633)cGc>cAc	p.R211H	HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000262520.6_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	211					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	p.R211H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAGGGCCTGCGCCTGGGAGGT	0.662													33	43					0	0	0	0	A	30998261	G	A	30998261	3	1	378	1	0	0	0	0	1	0	0	0	7442	1087	38	1	650	1	HSD3B7	16	30998261	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	253283	30998261	59356492	82	72695											
TP53	7157	broad.mit.edu	37	chr17	7578262	7578277	+	Frame_Shift_Del	DEL	CGGATAAGATGCTGAG	CGGATAAGATGCTGAG	-																															cacgcaaatttccttccactCggataagatgctgaggaggg																										TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr17:7578262_7578277delCGGATAAGATGCTGAG	ENST00000420246.2	-	6	704_719	c.572_587delCTCAGCATCTTATCCG	c.(571-588)cafs	p.PQHLIR191fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.PQHLIR191fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.Q192*(83)|p.H193R(80)|p.I195T(69)|p.L194R(47)|p.H193L(42)|p.H193Y(29)|p.I195F(20)|p.R196P(18)|p.H193P(18)|p.L194F(17)|p.R64*(14)|p.R103*(14)|p.H193D(13)|p.I195N(12)|p.I195S(10)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.P191del(7)|p.R196fs*51(7)|p.?(6)|p.I195fs*52(6)|p.Q99*(6)|p.I195fs*14(6)|p.Q60*(6)|p.L62R(5)|p.L101R(5)|p.Q192R(5)|p.P191delP(4)|p.H61R(4)|p.H100L(4)|p.H61L(4)|p.H100R(4)|p.L194L(4)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.I195M(3)|p.R196Q(3)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.Q192H(3)|p.P191L(2)|p.P191fs*53(2)|p.I102S(2)|p.I102T(2)|p.P59delP(2)|p.H61P(2)|p.I63T(2)|p.H100P(2)|p.I63S(2)|p.H61D(2)|p.H100D(2)|p.R103P(2)|p.G187fs*16(2)|p.R64P(2)|p.L194fs*15(2)|p.P191R(2)|p.P98delP(2)|p.H193H(2)|p.Q192Q(2)|p.R196R(2)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P59_E66>Q(1)|p.P191fs*56(1)|p.I102M(1)|p.I102F(1)|p.L188_P191del(1)|p.Q192fs*30(1)|p.I102fs*14(1)|p.I195fs*50(1)|p.R196L(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.H100Y(1)|p.H61Y(1)|p.Q192fs*16(1)|p.I195L(1)|p.I63fs*14(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P191fs*15(1)|p.I195_G199delIRVEG(1)|p.L62H(1)|p.A189fs*53(1)|p.A189_Q192>E(1)|p.L194V(1)|p.L194I(1)|p.I102fs*52(1)|p.I195fs*12(1)|p.I63M(1)|p.P191H(1)|p.L194fs*14(1)|p.P191P(1)|p.L101H(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.I63F(1)|p.I63fs*>28(1)|p.Q192fs*56(1)|p.Q192del(1)|p.H193_I195>AP(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)		TCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAG	0.551		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	16	---	---	---	---					-	7578277	CGGATAAGATGCTGAG	-	7578262	7	5	378	1	0	1	0	1	0	0	0	0	16476	884	31	0	707	0	TP53	17	7578262	Frame_Shift_Del	DEL	CGGATAAGATGCTGAG	TCGA-D6-A6EO-01A-11D-A31L-08		7578262	73616948	83	72696											
DNAH9	1770	broad.mit.edu	37	chr17	11835376	11835376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggagtttaagagcatcCtctttgctctttgttacttc	8	16	8	9	1	2	2	0	0	2	2	4	3	3	3	1	1	3	4	1	1	2	6			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr17:11835376C>T	ENST00000262442.3	+	64	12219	c.12151C>T	c.(12151-12153)Ctc>Ttc	p.L4051F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L3975F|DNAH9_ENST00000396001.2_Missense_Mutation_p.L363F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4051	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TAAGAGCATCCTCTTTGCTCT	0.493													86	178					0	0	0	0	T	11835376	C	T	11835376	3	4	378	1	0	0	0	0	1	0	0	0	4644	681	24	4	12405	4	DNAH9	17	11835376	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	4257114	11835376	69359834	84	72697											
TAOK1	57551	broad.mit.edu	37	chr17	27825376	27825376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacaggaacagttaataGtgttggaagtaatcaatcca	15	9	10	7	1	1	0	1	0	0	0	2	3	2	3	2	3	1	3	2	3	6	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr17:27825376G>A	ENST00000261716.3	+	12	1559	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N	TAOK1_ENST00000536202.1_Missense_Mutation_p.S347N	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	347	Ser-rich.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAGTTAATAGTGTTGGAAGT	0.408													17	49					0	0	0	0	A	27825376	G	A	27825376	3	1	378	1	0	0	0	0	1	0	0	0	15638	1029	36	4	1082	4	TAOK1	17	27825376	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08	15990000	27825376	53369834	85	72698											
SMCHD1	23347	broad.mit.edu	37	chr18	2718395	2718395	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacacttatgcaggaagAccactaccatctaaagcaat	16	7	7	11	0	1	2	0	0	1	2	1	3	1	3	2	1	3	3	2	1	6	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr18:2718395A>G	ENST00000320876.6	+	19	2759	c.2421A>G	c.(2419-2421)agA>agG	p.R807R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.R807R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	807					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATGCAGGAAGACCACTACCAT	0.299													26	276					0	0	0	0	G	2718395	A	G	2718395	2	3	378	1	0	0	0	0	0	0	0	1	14876	272	10	5		5	SMCHD1	18	2718395	Silent	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08		2718395	75358853	86	72699											
TNPO2	30000	broad.mit.edu	37	chr19	12821510	12821510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagaggaggcctttgaGtagtgggagtaggtggggca	9	8	21	3	0	0	2	0	1	0	1	0	5	0	5	1	7	0	3	1	7	3	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:12821510G>A	ENST00000425528.1	-	13	1552	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F	TNPO2_ENST00000356861.5_Missense_Mutation_p.L399F|TNPO2_ENST00000588216.1_Missense_Mutation_p.L399F|TNPO2_ENST00000450764.2_Missense_Mutation_p.L399F|TNPO2_ENST00000441499.1_Missense_Mutation_p.L399F|TNPO2_ENST00000592287.1_Missense_Mutation_p.L399F			O14787	TNPO2_HUMAN	transportin 2	399				LLKG -> YQS (in Ref. 1; AAB83973).	intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGCCTTTGAGTAGTGGGAGT	0.637													11	18					0	0	0	0	A	12821510	G	A	12821510	3	1	378	1	0	0	0	0	1	0	0	0	16430	1029	36	4	1550	4	TNPO2	19	12821510	Missense_Mutation	SNP	G	TCGA-D6-A6EO-01A-11D-A31L-08		12821510	46307473	87	72700											
NCAN	1463	broad.mit.edu	37	chr19	19330002	19330002	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactgccttcctaccccCggcgccgagccaacgccacg	6	6	9	20	5	1	0	1	0	0	0	2	1	2	0	7	1	4	0	7	1	2	2	rs138463686		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:19330002C>A	ENST00000252575.5	+	3	395	c.352C>A	c.(352-354)Cgg>Agg	p.R118R		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	118	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TTCCTACCCCCGGCGCCGAGC	0.652													13	20					2.27111e-07	2.381e-07	1	0	A	19330002	C	A	19330002	2	1	378	1	0	0	0	0	0	0	0	1	10274	643	23	3		3	NCAN	19	19330002	Silent	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	6508492	19330002	39798981	88	72701											
GRIK5	2901	broad.mit.edu	37	chr19	42510913	42510913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcacggtgaggaaggCggccaggttggccgtgtagg	6	6	20	9	4	0	1	0	1	0	0	0	2	0	2	2	7	1	4	2	7	2	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:42510913C>T	ENST00000262895.3	-	15	1920	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	GRIK5_ENST00000593562.1_Missense_Mutation_p.A641T|GRIK5_ENST00000301218.4_Missense_Mutation_p.A641T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	641						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTGAGGAAGGCGGCCAGGTTG	0.632													15	34					0	0	0	0	T	42510913	C	T	42510913	3	4	378	1	0	0	0	0	1	0	0	0	6827	768	27	1	1041	1	GRIK5	19	42510913	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	23180911	42510913	16618070	89	72702											
ZNF347	84671	broad.mit.edu	37	chr19	53644901	53644901	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtttttctccactgtgggTtgcctgatggatagctaagc	7	14	12	8	0	1	1	0	1	1	0	2	2	1	2	2	3	3	3	2	3	2	5			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:53644901T>A	ENST00000452676.2	-	5	1609	c.1183A>T	c.(1183-1185)Acc>Tcc	p.T395S	ZNF347_ENST00000601469.2_Missense_Mutation_p.T395S|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.T394S	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCACTGTGGGTTGCCTGATGG	0.413													32	35					0	0	0	0	A	53644901	T	A	53644901	3	1	378	1	0	0	0	0	1	0	0	0	17956	1725	60	5	1343	5	ZNF347	19	53644901	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	11133988	53644901	5484082	90	72703											
MAVS	57506	broad.mit.edu	37	chr20	3845164	3845164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctgccaactctctgccctCcaaagtgcctaccaccttga	9	9	5	18	0	1	1	0	1	1	0	3	1	2	1	7	0	5	0	7	0	3	2			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr20:3845164C>T	ENST00000428216.2	+	6	1015	c.887C>T	c.(886-888)tCc>tTc	p.S296F	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.S155F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	296					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TCTCTGCCCTCCAAAGTGCCT	0.592													30	50					0	0	0	0	T	3845164	C	T	3845164	3	4	378	1	0	0	0	0	1	0	0	0	9407	855	30	2	905	2	MAVS	20	3845164	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08		3845164	59180356	91	72704											
HAO1	54363	broad.mit.edu	37	chr20	7894877	7894877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcccaggtaaggtgtgTccactgtcacaaatatggcc	9	10	12	10	0	1	0	1	0	0	0	2	0	2	0	3	4	1	2	3	4	3	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr20:7894877T>C	ENST00000378789.3	-	3	530	c.479A>G	c.(478-480)gAc>gGc	p.D160G		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	160	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTAAGGTGTGTCCACTGTCAC	0.532													22	68					0	0	0	0	C	7894877	T	C	7894877	3	2	378	1	0	0	0	0	1	0	0	0	7001	1667	58	5	657	5	HAO1	20	7894877	Missense_Mutation	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08	4049713	7894877	55130643	92	72705											
GZF1	64412	broad.mit.edu	37	chr20	23345049	23345049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggtgcagttctgctggaatCcaaatcctccccatttaacc	9	11	7	14	1	1	0	0	0	1	0	4	1	4	1	5	2	3	3	5	2	3	3			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr20:23345049C>T	ENST00000338121.5	+	2	106	c.29C>T	c.(28-30)tCc>tTc	p.S10F	GZF1_ENST00000377051.2_Missense_Mutation_p.S10F|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	10					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CTGCTGGAATCCAAATCCTCC	0.478													30	55					0	0	0	0	T	23345049	C	T	23345049	3	4	378	1	0	0	0	0	1	0	0	0	6964	855	30	2	31	2	GZF1	20	23345049	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	15450172	23345049	39680471	93	72706											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666724	19666724	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttcctccaacaatcttTggggtgatgtcttgagctgc	7	15	9	10	0	2	2	0	2	2	0	4	2	4	2	2	2	4	1	2	2	3	4			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr21:19666724T>C	ENST00000284885.3	-	21	2382	c.2349A>G	c.(2347-2349)ccA>ccG	p.P783P		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	783					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAACAATCTTTGGGGTGATGT	0.463													67	132					0	0	0	0	C	19666724	T	C	19666724	2	2	378	1	0	0	0	0	0	0	0	1	16340	1799	63	5		5	TMPRSS15	21	19666724	Silent	SNP	T	TCGA-D6-A6EO-01A-11D-A31L-08		19666724	28463171	94	72707											
CELSR1	9620	broad.mit.edu	37	chr22	46761484	46761484	+	Splice_Site	DEL	A	A	-																															ccctccagggaagccataccAgggggatccttgcagctcct																										TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr22:46761484delA	ENST00000262738.3	-	31	8402	c.8404_splice	c.e31+1	p.P2801_splice		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2801					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCCATACCAGGGGGATCCT	0.637													2	4	---	---	---	---					-	46761484	A	-	46761484	8	5	378	1	0	1	0	1	0	0	1	0	3250	202	7	0	661	0	CELSR1	22	46761484	Splice_Site	DEL	A	TCGA-D6-A6EO-01A-11D-A31L-08		46761484	4543082	95	72708											
CELSR1	9620	broad.mit.edu	37	chr22	46931804	46931804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaccaggagctggtactCggccgcctcctcccggtcca	5	7	10	19	3	0	0	0	0	0	0	5	1	4	1	7	4	2	2	7	4	1	1			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr22:46931804C>T	ENST00000262738.3	-	1	1263	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E422K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	422	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCTGGTACTCGGCCGCCTCC	0.682													16	22					0	0	0	0	T	46931804	C	T	46931804	3	4	378	1	0	0	0	0	1	0	0	0	3250	893	31	1	7920	1	CELSR1	22	46931804	Missense_Mutation	SNP	C	TCGA-D6-A6EO-01A-11D-A31L-08	170320	46931804	4372762	96	72709											
STAG2	10735	broad.mit.edu	37	chrX	123195628	123195628	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttagcactaacAgataggcaagagagtgctct	11	16	8	6	0	1	2	0	0	1	2	1	3	1	2	0	1	3	3	0	1	4	8			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chrX:123195628A>G	ENST00000371160.1	+	17	1832	c.1542A>G	c.(1540-1542)acA>acG	p.T514T	STAG2_ENST00000371144.3_Silent_p.T514T|STAG2_ENST00000371157.3_Silent_p.T514T|STAG2_ENST00000371145.3_Silent_p.T514T|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Silent_p.T445T|STAG2_ENST00000218089.9_Silent_p.T514T			Q8N3U4	STAG2_HUMAN	stromal antigen 2	514					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			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						tAGCACTAACAGATAGGCAAG	0.353													4	4					0	0	0	0	G	123195628	A	G	123195628	2	3	378	1	0	0	0	0	0	0	0	1	15333	175	7	5		5	STAG2	23	123195628	Silent	SNP	A	TCGA-D6-A6EO-01A-11D-A31L-08		123195628	32074932	97	72710											
SPSB1	80176	broad.mit.edu	37	chr1	9416329	9416329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgcccccctgcactctGtcgggtacacaaccctcgtg	7	7	9	18	3	1	1	0	0	1	1	3	1	1	1	4	1	3	2	4	1	2	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:9416329G>A	ENST00000328089.6	+	2	720	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	SPSB1_ENST00000377399.2_Missense_Mutation_p.V127I|SPSB1_ENST00000357898.3_Missense_Mutation_p.V127I	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	127	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCACTCTGTCGGGTACAC	0.652													39	31					0	0	0	0	A	9416329	G	A	9416329	3	1	379	1	0	0	0	0	1	0	0	0	15202	1377	48	4	381	4	SPSB1	1	9416329	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		9416329	239834292	1	72711											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954486	12954486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatctgggggtagtacAggcagaggaatggagagtcc	13	6	16	6	0	1	2	0	0	1	2	2	4	2	3	1	5	2	4	1	5	4	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:12954486A>G	ENST00000235347.4	-	3	876	c.797T>C	c.(796-798)cTg>cCg	p.L266P		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	266										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTAGTACAGGCAGAGGAA	0.463													30	99					0	0	0	0	G	12954486	A	G	12954486	3	3	379	1	0	0	0	0	1	0	0	0	12502	188	7	5	635	5	PRAMEF10	1	12954486	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	3538157	12954486	236296135	2	72712											
SFN	2810	broad.mit.edu	37	chr1	27190149	27190149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcattgactcagcccggtCagcctaccaggaggccatgg	9	7	11	14	1	3	1	3	1	0	0	3	2	3	2	4	4	3	0	4	4	1	2	rs78707984		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:27190149C>T	ENST00000339276.4	+	1	517	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	149					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TCAGCCCGGTCAGCCTACCAG	0.602													22	54					0	0	0	0	T	27190149	C	T	27190149	3	4	379	1	0	0	0	0	1	0	0	0	14246	838	29	2	448	2	SFN	1	27190149	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	14235663	27190149	222060472	3	72713											
IFI44	10561	broad.mit.edu	37	chr1	79126276	79126276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcactcatgtggatagCatggatttgattacaaaagg	12	13	10	6	0	2	1	2	1	0	0	2	3	2	3	0	3	3	2	0	3	4	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:79126276C>T	ENST00000370747.4	+	7	1135	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	IFI44_ENST00000545124.1_Silent_p.S67S|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	350					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATGTGGATAGCATGGATTTGA	0.373													22	26					0	0	0	0	T	79126276	C	T	79126276	2	4	379	1	0	0	0	0	0	0	0	1	7570	709	25	4		4	IFI44	1	79126276	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	51936127	79126276	170124345	4	72714											
SYT6	148281	broad.mit.edu	37	chr1	114640424	114640424	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggggtatgccagcatctcGttccagtggtccctgcccag	5	9	13	14	2	1	0	0	0	1	0	4	0	3	0	4	3	3	3	4	3	1	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:114640424G>A	ENST00000393296.1	-	6	1517	c.1440C>T	c.(1438-1440)aaC>aaT	p.N480N	SYT6_ENST00000369547.1_Silent_p.N395N			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	480					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.N395K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGCATCTCGTTCCAGTGGT	0.572													51	42					0	0	0	0	A	114640424	G	A	114640424	2	1	379	1	0	0	0	0	0	0	0	1	15569	1136	40	1		1	SYT6	1	114640424	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	35514148	114640424	134610197	5	72715											
TSPAN2	10100	broad.mit.edu	37	chr1	115593159	115593159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacagcagaggaccatgctGaatatcatgccaaagatctg	14	7	10	10	0	2	3	1	1	1	2	2	4	2	4	2	1	3	3	2	1	3	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:115593159G>C	ENST00000369516.2	-	8	649	c.618C>G	c.(616-618)ttC>ttG	p.F206L	TSPAN2_ENST00000369514.2_Missense_Mutation_p.F178L|TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369515.2_Missense_Mutation_p.F181L	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	206						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GGACCATGCTGAATATCATGC	0.403													28	21					0	0	0	0	C	115593159	G	C	115593159	3	2	379	1	0	0	0	0	1	0	0	0	16739	1281	45	2	51	2	TSPAN2	1	115593159	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	952735	115593159	133657462	6	72716											
WDR3	10885	broad.mit.edu	37	chr1	118496120	118496120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggagagactcaaggtGacagttactttactggaaag	13	10	11	7	0	1	2	1	1	0	1	2	5	2	4	1	3	2	1	1	3	4	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:118496120G>T	ENST00000349139.4	+	21	2271	c.2224G>T	c.(2224-2226)Gac>Tac	p.D742Y		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	742						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GACTCAAGGTGACAGTTACTT	0.333													5	21					0.0215528	0.0219201	1	0	T	118496120	G	T	118496120	3	4	379	1	0	0	0	0	1	0	0	0	17381	1290	45	2	2302	2	WDR3	1	118496120	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	2902961	118496120	130754501	7	72717											
SPAG17	200162	broad.mit.edu	37	chr1	118629562	118629562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgagctgcgattctgtggtCtagcccgtctgctctggggg	3	12	16	10	2	4	1	0	1	4	0	4	2	4	1	1	3	4	2	1	3	1	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:118629562C>G	ENST00000336338.5	-	11	1494	c.1429G>C	c.(1429-1431)Gac>Cac	p.D477H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	477						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTCTGTGGTCTAGCCCGTCT	0.517													34	74					0	0	0	0	G	118629562	C	G	118629562	3	3	379	1	0	0	0	0	1	0	0	0	15069	913	32	2	5394	2	SPAG17	1	118629562	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	133442	118629562	130621059	8	72718											
KPRP	448834	broad.mit.edu	37	chr1	152732795	152732795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcctatgggagcttcaCtgaacagcaccgctctcgga	8	8	12	13	2	2	1	1	1	1	0	4	3	3	3	2	3	3	4	2	3	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:152732795C>A	ENST00000368773.1	+	2	789	c.731C>A	c.(730-732)aCt>aAt	p.T244N	KPRP_ENST00000606109.1_Missense_Mutation_p.T244N	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	244						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGAGCTTCACTGAACAGCAC	0.607													69	130					1.08241e-25	1.37412e-25	1	0	A	152732795	C	A	152732795	3	1	379	1	0	0	0	0	1	0	0	0	8488	565	20	4	733	4	KPRP	1	152732795	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	34103233	152732795	96517826	9	72719											
CRB1	23418	broad.mit.edu	37	chr1	197390522	197390522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgttcagccaatggctCttctacttttccgaagcaac	10	12	7	12	1	3	1	1	0	2	1	4	2	4	1	2	1	4	3	2	1	4	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:197390522C>A	ENST00000367400.3	+	6	1699	c.1564C>A	c.(1564-1566)Ctt>Att	p.L522I	CRB1_ENST00000538660.1_Missense_Mutation_p.L522I|CRB1_ENST00000367399.2_Missense_Mutation_p.L410I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.L3I|CRB1_ENST00000543483.1_Missense_Mutation_p.L221I|CRB1_ENST00000535699.1_Missense_Mutation_p.L453I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	522	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCCAATGGCTCTTCTACTTTT	0.473													16	59					6.31663e-08	7.06673e-08	1	0	A	197390522	C	A	197390522	3	1	379	1	0	0	0	0	1	0	0	0	3878	913	32	2	1586	2	CRB1	1	197390522	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	44657727	197390522	51860099	10	72720											
TNNT2	7139	broad.mit.edu	37	chr1	201334340	201334340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctgtctttgagagaaacGagctcctcctcctctttctt	7	15	6	13	1	3	2	0	1	3	1	7	4	7	2	4	0	2	1	4	0	1	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:201334340G>A	ENST00000509001.1	-	9	646	c.360C>T	c.(358-360)ctC>ctT	p.L120L	TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367317.4_Silent_p.L120L|TNNT2_ENST00000367322.1_Silent_p.L120L|TNNT2_ENST00000458432.2_Silent_p.L132L|TNNT2_ENST00000360372.4_Silent_p.L115L|TNNT2_ENST00000421663.2_Silent_p.L122L|TNNT2_ENST00000367315.2_Silent_p.L120L|TNNT2_ENST00000236918.7_Silent_p.L125L|TNNT2_ENST00000367318.5_Silent_p.L120L	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	130			F -> I (in CMH2).|F -> V (in CMH2).		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TGAGAGAAACGAGCTCCTCCT	0.547													26	139					0	0	0	0	A	201334340	G	A	201334340	2	1	379	1	0	0	0	0	0	0	0	1	16425	1045	37	1		1	TNNT2	1	201334340	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	3943818	201334340	47916281	11	72721											
OBSCN	84033	broad.mit.edu	37	chr1	228505639	228505639	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccctcagcccctgagagCcggcaggtggcagctggtga	7	5	15	14	1	1	2	1	2	0	1	1	3	1	2	4	4	4	3	4	4	0	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:228505639C>T	ENST00000570156.2	+	64	16841	c.16767C>T	c.(16765-16767)agC>agT	p.S5589S	OBSCN_ENST00000284548.11_Silent_p.S4632S|OBSCN_ENST00000422127.1_Silent_p.S4632S|OBSCN_ENST00000366707.4_Silent_p.S2266S|OBSCN_ENST00000366709.4_Silent_p.S1751S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4632					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCTGAGAGCCGGCAGGTGG	0.642													20	45					0	0	0	0	T	228505639	C	T	228505639	2	4	379	1	0	0	0	0	0	0	0	1	10883	738	26	4		4	OBSCN	1	228505639	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	27171299	228505639	20744982	12	72722											
MEIS1	4211	broad.mit.edu	37	chr2	66691249	66691249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgcccccacagccctcttgGaacagagatcatgatgacac	11	7	9	14	0	2	3	1	2	1	1	2	5	2	4	3	1	3	0	3	1	1	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:66691249G>A	ENST00000488550.1	+	7	938	c.639G>A	c.(637-639)tgG>tgA	p.W213*	MEIS1_ENST00000495021.2_Nonsense_Mutation_p.W148*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.W211*|MEIS1_ENST00000560281.2_Nonsense_Mutation_p.W213*|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.W213*|MEIS1_ENST00000444274.2_Nonsense_Mutation_p.W181*|MEIS1_ENST00000272369.9_Nonsense_Mutation_p.W213*			O00470	MEIS1_HUMAN	Meis homeobox 1	213	Ser/Thr-rich.						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGCCCTCTTGGAACAGAGATC	0.542													3	2					0	0	0	0	A	66691249	G	A	66691249	4	1	379	1	0	0	0	0	0	1	0	0	9536	1183	41	2	665	2	MEIS1	2	66691249	Nonsense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		66691249	176508124	13	72723											
CD207	50489	broad.mit.edu	37	chr2	71060790	71060790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttactttgtcgtttgagCaacttgctcatattctccaa	9	16	5	11	1	2	1	1	1	1	0	4	1	2	1	1	0	4	3	1	0	4	6			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:71060790C>A	ENST00000410009.3	-	3	597	c.552G>T	c.(550-552)ttG>ttT	p.L184F		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	184					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTCGTTTGAGCAACTTGCTCA	0.478													14	7					1.3612e-06	1.49482e-06	1	0	A	71060790	C	A	71060790	3	1	379	1	0	0	0	0	1	0	0	0	3012	709	25	4	450	4	CD207	2	71060790	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	4369541	71060790	172138583	14	72724											
ARHGAP15	55843	broad.mit.edu	37	chr2	144314011	144314011	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatatatcgagttagtggCaatctggcaacaatacagaa	16	9	10	6	1	1	1	0	0	1	1	2	3	1	2	0	3	2	3	0	3	9	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:144314011C>A	ENST00000295095.6	+	11	1127	c.960C>A	c.(958-960)ggC>ggA	p.G320G	RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	320	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAGTTAGTGGCAATCTGGCAA	0.313													57	5					1.72039e-30	2.21547e-30	1	0	A	144314011	C	A	144314011	2	1	379	1	0	0	0	0	0	0	0	1	868	697	25	4		4	ARHGAP15	2	144314011	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	73253221	144314011	98885362	15	72725											
IKZF2	22807	broad.mit.edu	37	chr2	213878616	213878616	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagagaaatattgttgTccataataggctcttgttcc	11	13	8	9	0	1	1	0	0	1	1	3	2	3	1	3	1	0	4	3	1	4	7			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:213878616T>A	ENST00000457361.1	-	7	923	c.755A>T	c.(754-756)gAc>gTc	p.D252V	IKZF2_ENST00000374319.4_Missense_Mutation_p.D226V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.D258V|IKZF2_ENST00000374327.4_Missense_Mutation_p.D107V|IKZF2_ENST00000451136.2_Missense_Mutation_p.D180V|IKZF2_ENST00000434687.1_Missense_Mutation_p.D252V	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATATTGTTGTCCATAATAGG	0.383													38	4					0	0	0	0	A	213878616	T	A	213878616	3	1	379	1	0	0	0	0	1	0	0	0	7668	1667	58	5	833	5	IKZF2	2	213878616	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	69564605	213878616	29320757	16	72726											
ABCA12	26154	broad.mit.edu	37	chr2	215976396	215976396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataatgactggccataagatCaagacaagtgtccaaagctg	16	8	9	8	0	1	3	1	1	0	2	2	3	2	3	2	1	1	1	2	1	5	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:215976396C>G	ENST00000272895.7	-	2	306	c.87G>C	c.(85-87)ttG>ttC	p.L29F	ABCA12_ENST00000412081.1_Missense_Mutation_p.L29F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	29					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCATAAGATCAAGACAAGTG	0.303													35	3					0	0	0	0	G	215976396	C	G	215976396	3	3	379	1	0	0	0	0	1	0	0	0	30	825	29	2	7939	2	ABCA12	2	215976396	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	2097780	215976396	27222977	17	72727											
NHEJ1	79840	broad.mit.edu	37	chr2	219942055	219942055	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattggctatcgattccttgCagggaagcactgtttgaggt	8	13	12	8	1	0	1	0	1	0	0	2	3	1	2	1	3	2	4	1	3	2	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:219942055C>A	ENST00000356853.5	-	7	871	c.738G>T	c.(736-738)ctG>ctT	p.L246L	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Silent_p.L246L	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	246					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CGATTCCTTGCAGGGAAGCAC	0.463								Non-homologous end-joining					12	31					6.53275e-17	7.79575e-17	1	0	A	219942055	C	A	219942055	2	1	379	1	0	0	0	0	0	0	0	1	10472	697	25	4		4	NHEJ1	2	219942055	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	3965659	219942055	23257318	18	72728											
ABCB6	10058	broad.mit.edu	37	chr2	220082999	220082999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattgccagacgctgccGtgcctggctccgctccacga	5	7	11	18	4	0	1	0	0	0	1	2	2	2	1	6	1	3	3	6	1	0	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:220082999G>T	ENST00000265316.3	-	1	713	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	ABCB6_ENST00000439002.2_Silent_p.R133R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	133					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACGCTGCCGTGCCTGGCTC	0.642													72	58					7.46257e-40	9.75036e-40	1	0	T	220082999	G	T	220082999	2	4	379	1	0	0	0	0	0	0	0	1	45	1144	40	3		3	ABCB6	2	220082999	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	140944	220082999	23116374	19	72729											
TRIP12	9320	broad.mit.edu	37	chr2	230723591	230723591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaggctaactttagggctGaaacgagcagcccaatcaaa	15	6	11	9	1	1	1	1	1	0	0	1	3	1	2	1	3	4	3	1	3	6	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:230723591G>C	ENST00000283943.5	-	3	976	c.798C>G	c.(796-798)ttC>ttG	p.F266L	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.F308L|TRIP12_ENST00000543084.1_Missense_Mutation_p.F308L|TRIP12_ENST00000389044.4_Missense_Mutation_p.F308L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	266					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		CTTTAGGGCTGAAACGAGCAG	0.468													40	2					0	0	0	0	C	230723591	G	C	230723591	3	2	379	1	0	0	0	0	1	0	0	0	16651	1281	45	2	5336	2	TRIP12	2	230723591	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	10640592	230723591	12475782	20	72730											
BTLA	151888	broad.mit.edu	37	chr3	112198587	112198587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgttcagattgtctctttaTataaagctgtacatcacatg	11	16	7	7	0	3	1	2	0	1	1	4	1	3	1	0	0	2	3	0	0	5	7			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:112198587T>C	ENST00000334529.5	-	2	320	c.118A>G	c.(118-120)Ata>Gta	p.I40V	BTLA_ENST00000383680.4_Missense_Mutation_p.I40V	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	40					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTCTTTATATAAAGCTGT	0.358													24	22					0	0	0	0	C	112198587	T	C	112198587	3	2	379	1	0	0	0	0	1	0	0	0	1567	1406	49	5	767	5	BTLA	3	112198587	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08		112198587	85823843	21	72731											
ZIC4	84107	broad.mit.edu	37	chr3	147108779	147108779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccacctgggacttgtGgccgcagtccgacgagggcg	6	5	18	12	4	0	0	0	0	0	0	1	4	1	2	4	5	0	1	4	5	0	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:147108779G>T	ENST00000383075.3	-	4	1455	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZIC4_ENST00000425731.3_Missense_Mutation_p.H353N|ZIC4_ENST00000525172.2_Missense_Mutation_p.H365N|ZIC4_ENST00000491672.1_Missense_Mutation_p.H109N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.H315N|ZIC4_ENST00000473123.1_Missense_Mutation_p.H315N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	315						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGACTTGTGGCCGCAGTCC	0.697													7	48					0.248553	0.248553	1	0	T	147108779	G	T	147108779	3	4	379	1	0	0	0	0	1	0	0	0	17776	1348	47	4	69	4	ZIC4	3	147108779	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	34910192	147108779	50913651	22	72732											
PLD1	5337	broad.mit.edu	37	chr3	171405194	171405194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgctgatgctatctgCgtcgtgcaggtggtgcctgt	5	13	14	9	2	1	1	0	1	1	0	2	1	1	1	1	2	6	4	1	2	2	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:171405194C>G	ENST00000356327.5	-	15	1790	c.1720G>C	c.(1720-1722)Gca>Cca	p.A574P	PLD1_ENST00000351298.4_Missense_Mutation_p.A574P|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.A574P	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	574	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATGCTATCTGCGTCGTGCAGG	0.438													11	66					0	0	0	0	G	171405194	C	G	171405194	3	3	379	1	0	0	0	0	1	0	0	0	12117	768	27	3	1556	3	PLD1	3	171405194	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	24296415	171405194	26617236	23	72733											
PEX5L	51555	broad.mit.edu	37	chr3	179576864	179576864	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttacctccactgctgcttTtgccctttcaaactcttctt	6	17	4	14	0	3	0	1	0	2	0	4	0	4	0	3	0	5	3	3	0	2	6			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:179576864T>A	ENST00000467460.1	-	8	1138	c.808A>T	c.(808-810)Aaa>Taa	p.K270*	PEX5L_ENST00000465751.1_Nonsense_Mutation_p.K246*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.K235*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.K227*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.K162*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.K78*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.K162*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.K268*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.K211*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	270					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACTGCTGCTTTTGCCCTTTCA	0.393													12	47					0	0	0	0	A	179576864	T	A	179576864	4	1	379	1	0	0	0	0	0	1	0	0	11821	1850	64	5	1104	5	PEX5L	3	179576864	Nonsense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	8171670	179576864	18445566	24	72734											
CPN2	1370	broad.mit.edu	37	chr3	194061797	194061797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtatgcgctgctactaGggccctgctgcccgagcctc	4	10	11	16	2	0	0	0	0	0	0	2	1	1	0	4	1	6	4	4	1	3	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:194061797G>T	ENST00000323830.3	-	2	1724	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P	CPN2_ENST00000429275.1_Silent_p.P545P	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	545					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTGCTACTAGGGCCCTGCTG	0.647													5	28					5.9392e-07	6.56245e-07	1	0	T	194061797	G	T	194061797	2	4	379	1	0	0	0	0	0	0	0	1	3840	987	35	4		4	CPN2	3	194061797	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	14484933	194061797	3960633	25	72735											
PAK2	5062	broad.mit.edu	37	chr3	196545014	196545014	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttttgggaatggaaggAtctgttaagctcagtgagta	11	13	13	4	0	2	1	1	1	1	0	2	4	2	4	0	3	2	4	0	3	5	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:196545014A>T	ENST00000327134.3	+	12	1462	c.1140A>T	c.(1138-1140)ggA>ggT	p.G380G		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	380	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAATGGAAGGATCTGTTAAGC	0.333													29	20					0	0	0	0	T	196545014	A	T	196545014	2	4	379	1	0	0	0	0	0	0	0	1	11472	320	12	5		5	PAK2	3	196545014	Silent	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	2483217	196545014	1477416	26	72736											
GBA3	57733	broad.mit.edu	37	chr4	22749536	22749536	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgatcaaaggcactgctGatttttttgctgtgcaatat	12	15	8	6	0	1	2	1	2	0	0	1	2	1	2	0	1	3	4	0	1	4	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:22749536G>A	ENST00000511446.1	+	0	907				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_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						AGGCACTGCTGATTTTTTTGC	0.398													4	1					0	0	0	0	A	22749536	G	A	22749536	1	1	379	0	1	0	0	0	0	0	0	0	6317	1290	45	2		2	GBA3	4	22749536	RNA	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		22749536	168404740	27	72737											
CLOCK	9575	broad.mit.edu	37	chr4	56315583	56315583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgactactaaatgatgaccTtctttgcaccatcttctcat	10	15	4	12	0	3	3	1	3	3	0	4	3	3	3	2	0	2	1	2	0	3	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:56315583T>C	ENST00000309964.4	-	16	1679	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G	CLOCK_ENST00000513440.1_Missense_Mutation_p.R477G|CLOCK_ENST00000381322.1_Missense_Mutation_p.R477G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	477					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AATGATGACCTTCTTTGCACC	0.398													45	31					0	0	0	0	C	56315583	T	C	56315583	3	2	379	1	0	0	0	0	1	0	0	0	3579	1608	56	5	1139	5	CLOCK	4	56315583	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	33566047	56315583	134838693	28	72738											
SHROOM3	57619	broad.mit.edu	37	chr4	77662323	77662323	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacctggccaggcccgtGccccctgccgcccggagagg	4	3	16	18	4	0	1	0	0	0	1	0	3	0	1	7	5	2	0	7	5	0	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:77662323G>A	ENST00000296043.6	+	5	3950	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	999	ASD1.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCAGGCCCGTGCCCCCTGCCG	0.741													3	1					0	0	0	0	A	77662323	G	A	77662323	2	1	379	1	0	0	0	0	0	0	0	1	14383	1306	46	4		4	SHROOM3	4	77662323	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	21346740	77662323	113491953	29	72739											
C9	735	broad.mit.edu	37	chr5	39364512	39364512	+	Missense_Mutation	SNP	G	G	T																															ggtcgtgtactgtgctgtgaGgatgcttatttctaaaatgc																										TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:39364512G>T	ENST00000263408.4	-	1	150	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	19					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTGCTGTGAGGATGCTTATT	0.507													4	14					0.184627	0.185665	1	0	T	39364512	G	T	39364512	3	4	379	1	0	0	0	0	1	0	0	0	2468	1000	35	4	1668	4	C9	5	39364512	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		39364512	141550748	30	72740	986	2									
C9	735	broad.mit.edu	37	chr5	39364513	39364513	+	Silent	SNP	G	G	T																															gtcgtgtactgtgctgtgagGatgcttatttctaaaatgca																										TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:39364513G>T	ENST00000263408.4	-	1	149	c.54C>A	c.(52-54)atC>atA	p.I18I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	18					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTGCTGTGAGGATGCTTATTT	0.512													4	15					0.184627	0.185665	1	0	T	39364513	G	T	39364513	2	4	379	1	0	0	0	0	0	0	0	1	2468	1164	41	2		2	C9	5	39364513	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	1	39364513	141550747	31	72741	986	2									
GHR	2690	broad.mit.edu	37	chr5	42718763	42718763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgaaggatggcgactctgGacgtaccagctgttgtgaac	9	9	15	8	2	1	2	0	2	1	0	1	5	1	4	1	4	3	3	1	4	3	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:42718763G>A	ENST00000230882.4	+	10	1344	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	GHR_ENST00000357703.3_Missense_Mutation_p.G363E|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.G198E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	385					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGCGACTCTGGACGTACCAGC	0.468													24	61					0	0	0	0	A	42718763	G	A	42718763	3	1	379	1	0	0	0	0	1	0	0	0	6422	1174	41	2	1188	2	GHR	5	42718763	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	3354250	42718763	138196497	32	72742											
MAP3K1	4214	broad.mit.edu	37	chr5	56177591	56177591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccaggatgcgtcgccGtttgatggctattgcagatg	7	12	12	10	3	1	2	1	1	0	1	2	3	1	3	2	2	2	3	2	2	1	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:56177591G>A	ENST00000399503.3	+	14	2564	c.2564G>A	c.(2563-2565)cGt>cAt	p.R855H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	855					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGCGTCGCCGTTTGATGGCT	0.473													4	66					0	0	0	0	A	56177591	G	A	56177591	3	1	379	1	0	0	0	0	1	0	0	0	9312	1145	40	1	2618	1	MAP3K1	5	56177591	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	13458828	56177591	124737669	33	72743											
DOCK2	1794	broad.mit.edu	37	chr5	169507197	169507197	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgagttcatgagtgacAccaacctctcggagcatgcg	11	8	11	11	2	2	3	1	3	1	0	3	4	2	4	2	1	4	3	2	1	1	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:169507197A>T	ENST00000256935.8	+	50	5277	c.5197A>T	c.(5197-5199)Acc>Tcc	p.T1733S	DOCK2_ENST00000540750.1_Missense_Mutation_p.T794S|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1225S|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1733					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGAGTGACACCAACCTCTC	0.552													39	5					0	0	0	0	T	169507197	A	T	169507197	3	4	379	1	0	0	0	0	1	0	0	0	4723	159	6	5	5395	5	DOCK2	5	169507197	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	113329606	169507197	11408063	34	72744											
BMP6	654	broad.mit.edu	37	chr6	7727426	7727426	+	Missense_Mutation	SNP	C	C	A																															cgcaggagaagcgggagatgCagaaggagatcttgtcggtg																										TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:7727426C>A	ENST00000283147.6	+	1	397	c.238C>A	c.(238-240)Cag>Aag	p.Q80K		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	80					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCGGGAGATGCAGAAGGAGAT	0.746													8	27					0.00829132	0.00848083	1	0	A	7727426	C	A	7727426	3	1	379	1	0	0	0	0	1	0	0	0	1469	711	25	4	240	4	BMP6	6	7727426	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08		7727426	163387641	35	72745	987	2									
BMP6	654	broad.mit.edu	37	chr6	7727427	7727427	+	Missense_Mutation	SNP	A	A	G																															gcaggagaagcgggagatgcAgaaggagatcttgtcggtgc																										TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:7727427A>G	ENST00000283147.6	+	1	398	c.239A>G	c.(238-240)cAg>cGg	p.Q80R		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	80					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGGGAGATGCAGAAGGAGATC	0.746													8	28					0	0	0	0	G	7727427	A	G	7727427	3	3	379	1	0	0	0	0	1	0	0	0	1469	188	7	5	241	5	BMP6	6	7727427	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	1	7727427	163387640	36	72746	987	2									
LRRC16A	55604	broad.mit.edu	37	chr6	25515919	25515919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagcctctgcagtccttgtCcctggctgactcgaaactca	7	10	9	15	1	2	1	1	1	1	0	5	2	4	1	3	1	3	3	3	1	1	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:25515919C>T	ENST00000329474.6	+	21	2017	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	550					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTCCTTGTCCCTGGCTGAC	0.542													7	13					0	0	0	0	T	25515919	C	T	25515919	3	4	379	1	0	0	0	0	1	0	0	0	9035	855	30	2	1731	2	LRRC16A	6	25515919	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	17788492	25515919	145599148	37	72747											
OR2B6	26212	broad.mit.edu	37	chr6	27925464	27925464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttggcagctgcatcctGggttactggttttagtaact	7	14	11	9	0	0	0	0	0	0	0	1	0	1	0	2	3	4	7	2	3	3	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:27925464G>C	ENST00000244623.1	+	1	446	c.446G>C	c.(445-447)tGg>tCg	p.W149S		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGCATCCTGGGTTACTGGT	0.493													47	88					0	0	0	0	C	27925464	G	C	27925464	3	2	379	1	0	0	0	0	1	0	0	0	11062	1357	47	4	448	4	OR2B6	6	27925464	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	2409545	27925464	143189603	38	72748											
LY6G6D	58530	broad.mit.edu	37	chr6	31683300	31683300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccgaatgcggtgctacaActgtggtggaagccccagca	12	6	12	11	2	0	0	0	0	0	0	0	2	0	1	3	3	7	2	3	3	5	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:31683300A>G	ENST00000503322.1	+	5	827	c.824A>G	c.(823-825)aAc>aGc	p.N275S	LY6G6D_ENST00000375825.3_Missense_Mutation_p.N26S|LY6G6F_ENST00000556581.1_Missense_Mutation_p.N275S																							CGGTGCTACAACTGTGGTGGA	0.617													57	53					0	0	0	0	G	31683300	A	G	31683300	3	3	379	1	0	0	0	0	1	0	0	0	9160	43	2	5	83	5	LY6G6D	6	31683300	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	3757836	31683300	139431767	39	72749											
C6orf1	221491	broad.mit.edu	37	chr6	34214862	34214862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagctcctgctcagcctCatgcagttcctcagctgggt	6	10	11	14	0	3	0	3	0	0	0	5	1	5	0	3	1	6	6	3	1	0	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:34214862C>T	ENST00000476320.1	-	4	766	c.84G>A	c.(82-84)atG>atA	p.M28I	C6orf1_ENST00000394990.4_Missense_Mutation_p.M28I|C6orf1_ENST00000335352.3_Missense_Mutation_p.M8I|C6orf1_ENST00000413013.2_Missense_Mutation_p.M8I|C6orf1_ENST00000468145.1_Missense_Mutation_p.M28I|C6orf1_ENST00000481533.1_Missense_Mutation_p.M28I	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	28						extracellular region				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		TGCTCAGCCTCATGCAGTTCC	0.637											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	111					0	0	0	0	T	34214862	C	T	34214862	3	4	379	1	0	0	0	0	1	0	0	0	2337	826	29	2	403	2	C6orf1	6	34214862	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	2531562	34214862	136900205	40	72750											
ZNF292	23036	broad.mit.edu	37	chr6	87968364	87968364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactaaccttcattcaaatGtaattccaacttgtgaacct	13	14	3	11	0	2	1	2	1	0	0	3	1	3	1	3	0	4	1	3	0	6	7			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:87968364G>A	ENST00000369577.3	+	8	5060	c.5017G>A	c.(5017-5019)Gta>Ata	p.V1673I	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1668I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCATTCAAATGTAATTCCAAC	0.338													3	25					0	0	0	0	A	87968364	G	A	87968364	3	1	379	1	0	0	0	0	1	0	0	0	17921	1377	48	4	5047	4	ZNF292	6	87968364	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	53753502	87968364	83146703	41	72751											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152226	151152226	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgatgacatagaccatgTctatgataacatcagttatg	14	14	7	6	0	2	4	1	3	1	1	2	4	2	4	1	0	1	1	1	0	5	6			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:151152226T>A	ENST00000367328.1	+	16	2291	c.1979T>A	c.(1978-1980)gTc>gAc	p.V660D	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V660D	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	660					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATAGACCATGTCTATGATAAC	0.473													18	18					0	0	0	0	A	151152226	T	A	151152226	3	1	379	1	0	0	0	0	1	0	0	0	12140	1667	58	5	2033	5	PLEKHG1	6	151152226	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	63183862	151152226	19962841	42	72752											
SYNE1	23345	broad.mit.edu	37	chr6	152621877	152621877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccccagactcctcagTgaccggtgacagcaaagtgt	9	8	9	15	1	1	3	1	2	0	1	4	3	4	3	5	1	1	1	5	1	1	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:152621877T>C	ENST00000367255.5	-	93	18182	c.17581A>G	c.(17581-17583)Act>Gct	p.T5861A	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5790A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5861A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5790A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T385A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5473A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5861					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTCCTCAGTGACCGGTGAC	0.493										HNSCC(10;0.0054)			32	27					0	0	0	0	C	152621877	T	C	152621877	3	2	379	1	0	0	0	0	1	0	0	0	15536	1696	59	5	9101	5	SYNE1	6	152621877	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	1469651	152621877	18493190	43	72753											
CARD11	84433	broad.mit.edu	37	chr7	2962292	2962292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgaccttgtagtgcaGcgtgacggggccgctgcacc	5	9	16	11	3	0	2	0	2	0	0	0	2	0	2	3	3	3	5	3	3	1	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:2962292G>T	ENST00000396946.4	-	17	2648	c.2245C>A	c.(2245-2247)Ctg>Atg	p.L749M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	749	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTAGTGCAGCGTGACGGGG	0.627			Mis		DLBCL								32	95					8.16721e-17	9.68166e-17	1	0	T	2962292	G	T	2962292	3	4	379	1	0	0	0	0	1	0	0	0	2670	962	34	4	1255	4	CARD11	7	2962292	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		2962292	156176371	44	72754											
ZNF12	7559	broad.mit.edu	37	chr7	6730867	6730867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctctcctgaatgaattCtatgatgtatagtgaggtat	10	16	9	6	0	2	4	0	4	2	0	4	4	3	4	1	1	0	3	1	1	6	6			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:6730867C>T	ENST00000405858.1	-	5	2247	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	ZNF12_ENST00000342651.5_Missense_Mutation_p.R531K|ZNF12_ENST00000404360.1_Missense_Mutation_p.R495K|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	569					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGAATGAATTCTATGATGTAT	0.408													4	69					0	0	0	0	T	6730867	C	T	6730867	3	4	379	1	0	0	0	0	1	0	0	0	17813	913	32	2	391	2	ZNF12	7	6730867	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	3768575	6730867	152407796	45	72755											
COL28A1	340267	broad.mit.edu	37	chr7	7413146	7413146	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgatcacaaacaccagctcTagtggagtctctttgcattt	10	13	7	11	1	3	0	1	0	2	0	5	2	3	1	1	1	3	2	1	1	2	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:7413146T>C	ENST00000399429.3	-	32	2531	c.2391A>G	c.(2389-2391)ctA>ctG	p.L797L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	797					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACACCAGCTCTAGTGGAGTCT	0.458													29	51					0	0	0	0	C	7413146	T	C	7413146	2	2	379	1	0	0	0	0	0	0	0	1	3716	1509	53	5		5	COL28A1	7	7413146	Silent	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	682279	7413146	151725517	46	72756											
NPSR1	387129	broad.mit.edu	37	chr7	34851447	34851447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagacagataccatgccatCgtctaccccatgaagttcct	12	10	6	13	1	1	3	0	1	1	2	3	3	2	3	5	0	3	1	5	0	4	4	rs116733850	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:34851447C>T	ENST00000360581.1	+	4	578	c.450C>T	c.(448-450)atC>atT	p.I150I	NPSR1_ENST00000531252.1_Silent_p.I139I|NPSR1_ENST00000381539.3_Silent_p.I150I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Silent_p.I150I	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	150						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCATGCCATCGTCTACCCCA	0.468													49	91					0	0	0	0	T	34851447	C	T	34851447	2	4	379	1	0	0	0	0	0	0	0	1	10671	874	31	1		1	NPSR1	7	34851447	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	27438301	34851447	124287216	47	72757											
SFRP4	6424	broad.mit.edu	37	chr7	37951817	37951817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgagcgggacttgagttCgagggatgggtgatgaggac	10	9	18	4	2	0	4	0	4	0	0	1	8	0	7	0	4	1	1	0	4	1	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:37951817C>T	ENST00000436072.2	-	4	1072	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	232	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R232Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACTTGAGTTCGAGGGATGGG	0.478													17	56					0	0	0	0	T	37951817	C	T	37951817	3	4	379	1	0	0	0	0	1	0	0	0	14250	884	31	1	357	1	SFRP4	7	37951817	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	3100370	37951817	121186846	48	72758											
NPC1L1	29881	broad.mit.edu	37	chr7	44578642	44578642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaccatacctggaggtgccGcagcctctcctgcagctcta	7	8	10	16	2	2	0	0	0	2	0	3	2	2	1	5	2	5	3	5	2	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:44578642G>C	ENST00000289547.4	-	2	1409	c.1354C>G	c.(1354-1356)Cgg>Ggg	p.R452G	NPC1L1_ENST00000423141.1_Missense_Mutation_p.R452G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R452G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R452G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	452					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGAGGTGCCGCAGCCTCTCC	0.597													28	18					0	0	0	0	C	44578642	G	C	44578642	3	2	379	1	0	0	0	0	1	0	0	0	10641	1086	38	3	2801	3	NPC1L1	7	44578642	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	6626825	44578642	114560021	49	72759											
AUTS2	26053	broad.mit.edu	37	chr7	69064895	69064895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtccacctcggcagaagagGacatcattgatggatttgcc	11	9	11	10	1	1	3	1	1	0	2	3	5	2	5	3	3	1	1	3	3	1	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:69064895G>C	ENST00000342771.4	+	1	577	c.256G>C	c.(256-258)Gac>Cac	p.D86H	AUTS2_ENST00000406775.2_Missense_Mutation_p.D86H|AUTS2_ENST00000403018.2_Missense_Mutation_p.D86H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	86										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCAGAAGAGGACATCATTGA	0.627													12	41					0	0	0	0	C	69064895	G	C	69064895	3	2	379	1	0	0	0	0	1	0	0	0	1229	1174	41	2	258	2	AUTS2	7	69064895	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	24486253	69064895	90073768	50	72760											
PPP1R9A	55607	broad.mit.edu	37	chr7	94740703	94740703	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtggagctagagaaaGgttcgtgagtgctacagtgt	10	10	14	7	1	0	2	0	1	0	1	2	4	1	3	1	2	3	3	1	2	3	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:94740703G>T	ENST00000289495.5	+	2	1744	c.1528_splice	c.e2+1	p.D510_splice	PPP1R9A_ENST00000424654.1_Splice_Site_p.D510_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.D510_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.D510_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.D510_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.D510_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	510	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCTAGAGAAAGGTTCGTGAGT	0.368										HNSCC(28;0.073)			17	13					2.94398e-08	3.31429e-08	1	0	T	94740703	G	T	94740703	5	4	379	1	0	0	0	0	0	0	1	0	12454	1014	35	4	1534	4	PPP1R9A	7	94740703	Splice_Site	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	25675808	94740703	64397960	51	72761											
NRF1	4899	broad.mit.edu	37	chr7	129311379	129311379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcaacaaacacgtttgCttcggtgagggctcccttat	10	10	11	10	2	0	2	0	1	0	1	2	2	1	2	1	3	3	4	1	3	3	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:129311379C>A	ENST00000393232.1	+	3	451	c.334C>A	c.(334-336)Ctt>Att	p.L112I	NRF1_ENST00000539636.1_Intron|NRF1_ENST00000393230.2_Missense_Mutation_p.L112I|NRF1_ENST00000311967.2_Missense_Mutation_p.L112I|NRF1_ENST00000353868.4_Missense_Mutation_p.L112I|NRF1_ENST00000223190.4_Missense_Mutation_p.L112I|NRF1_ENST00000393231.3_Missense_Mutation_p.L112I	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	112					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AACACGTTTGCTTCGGTGAGG	0.448													18	5					5.3912e-06	5.8843e-06	1	0	A	129311379	C	A	129311379	3	1	379	1	0	0	0	0	1	0	0	0	10717	797	28	4	340	4	NRF1	7	129311379	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	34570676	129311379	29827284	52	72762											
EYA1	2138	broad.mit.edu	37	chr8	72267113	72267113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccactcagacggctatGcgggctggttagatcctgca	9	9	11	12	2	1	2	1	0	0	2	2	2	2	2	2	3	3	4	2	3	3	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:72267113G>T	ENST00000340726.3	-	3	667	c.28C>A	c.(28-30)Cat>Aat	p.H10N	EYA1_ENST00000303824.7_Missense_Mutation_p.H10N|EYA1_ENST00000388742.4_Missense_Mutation_p.H10N|EYA1_ENST00000419131.1_Missense_Mutation_p.H10N|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.H10N|EYA1_ENST00000388740.3_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	10					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGACGGCTATGCGGGCTGGTT	0.453													55	87					3.21867e-24	4.02897e-24	1	0	T	72267113	G	T	72267113	3	4	379	1	0	0	0	0	1	0	0	0	5366	1319	46	4	1814	4	EYA1	8	72267113	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		72267113	74096909	53	72763											
CNGB3	54714	broad.mit.edu	37	chr8	87588063	87588063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttttctttgacttcaataGtaagaacctcttctccgccc	8	15	4	14	1	4	2	1	1	3	1	5	2	4	2	4	0	1	1	4	0	4	7			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:87588063G>A	ENST00000320005.5	-	18	2446	c.2399C>T	c.(2398-2400)aCt>aTt	p.T800I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	800					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GACTTCAATAGTAAGAACCTC	0.403													35	32					0	0	0	0	A	87588063	G	A	87588063	3	1	379	1	0	0	0	0	1	0	0	0	3631	1029	36	4	34	4	CNGB3	8	87588063	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	15320950	87588063	58775959	54	72764											
RBM12B	389677	broad.mit.edu	37	chr8	94747091	94747091	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaactgagtatattggTgggtcttttgagtcaaataa	12	13	10	6	0	2	2	1	2	1	0	2	2	2	2	1	2	1	2	1	2	5	6			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:94747091T>C	ENST00000399300.2	-	3	1761	c.1548A>G	c.(1546-1548)ccA>ccG	p.P516P	RBM12B_ENST00000517700.1_Silent_p.P516P|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	516							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTATATTGGTGGGTCTTTTG	0.443													45	62					0	0	0	0	C	94747091	T	C	94747091	2	2	379	1	0	0	0	0	0	0	0	1	13196	1683	59	5		5	RBM12B	8	94747091	Silent	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	7159028	94747091	51616931	55	72765											
AK3	50808	broad.mit.edu	37	chr9	4718523	4718523	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatgagaggctccccagtCaggtcatcaatgccctaaac	12	8	9	12	0	3	2	3	2	0	1	4	3	4	2	3	2	2	1	3	2	4	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:4718523C>G	ENST00000381809.3	-	4	689	c.459G>C	c.(457-459)ctG>ctC	p.L153L	AK3_ENST00000359883.2_Silent_p.L83L|AK3_ENST00000447596.4_Silent_p.L113L	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	153					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		GCTCCCCAGTCAGGTCATCAA	0.378													21	6					0	0	0	0	G	4718523	C	G	4718523	2	3	379	1	0	0	0	0	0	0	0	1	441	813	29	2		2	AK3	9	4718523	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08		4718523	136494908	56	72766											
PTPRD	5789	broad.mit.edu	37	chr9	8499688	8499688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctttcagcatgggctggcCcttgggctcaccattttcca	6	13	9	13	0	3	0	2	0	1	0	4	0	4	0	3	3	1	3	3	3	0	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:8499688C>T	ENST00000381196.4	-	22	2824	c.2281G>A	c.(2281-2283)Ggc>Agc	p.G761S	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.G761S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G761S|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G748S|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G748S|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	761	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGGGCTGGCCCTTGGGCTCA	0.433										TSP Lung(15;0.13)			18	63					0	0	0	0	T	8499688	C	T	8499688	3	4	379	1	0	0	0	0	1	0	0	0	12881	623	22	4	3613	4	PTPRD	9	8499688	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	3781165	8499688	132713743	57	72767											
PSAT1	29968	broad.mit.edu	37	chr9	80919820	80919820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccaagaagtttgggactAtaaatatcgttcaccctaaa	16	10	7	8	1	1	1	1	0	0	1	2	2	1	2	2	1	1	2	2	1	9	6			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:80919820A>G	ENST00000376588.3	+	4	429	c.361A>G	c.(361-363)Ata>Gta	p.I121V	PSAT1_ENST00000347159.2_Missense_Mutation_p.I121V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	121					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTTTGGGACTATAAATATCGT	0.502													56	5					0	0	0	0	G	80919820	A	G	80919820	3	3	379	1	0	0	0	0	1	0	0	0	12723	449	16	5	375	5	PSAT1	9	80919820	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	72420132	80919820	60293611	58	72768											
NOL8	55035	broad.mit.edu	37	chr9	95077738	95077738	+	Frame_Shift_Del	DEL	T	T	-																															tgtttttgaccttagcaacaTtttttttcatcgcaataatt																										TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:95077738delT	ENST00000545558.1	-	7	1661	c.1169delA	c.(1168-1170)atfs	p.N390fs	NOL8_ENST00000442668.2_Frame_Shift_Del_p.N390fs|NOL8_ENST00000535387.1_Frame_Shift_Del_p.N390fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.N322fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.N322fs			Q76FK4	NOL8_HUMAN	nucleolar protein 8	390					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTAGCAACATTTTTTTTCAT	0.323													2	4	---	---	---	---					-	95077738	T	-	95077738	7	5	379	1	0	1	0	1	0	0	0	0	10597	1493	52	0	2378	0	NOL8	9	95077738	Frame_Shift_Del	DEL	T	TCGA-D6-A6EP-01A-11D-A31L-08	14157918	95077738	46135693	59	72769											
PHF2	5253	broad.mit.edu	37	chr9	96418870	96418870	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcacctgctggaggcAttcaaaggtactggtcactc	10	8	13	10	0	2	0	2	0	0	0	3	2	2	2	1	5	3	4	1	5	3	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:96418870A>C	ENST00000359246.4	+	9	1507	c.1140A>C	c.(1138-1140)gcA>gcC	p.A380A	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	380					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGCTGGAGGCATTCAAAGGTA	0.582													31	81					0	0	0	0	C	96418870	A	C	96418870	2	2	379	1	0	0	0	0	0	0	0	1	11902	204	8	5		5	PHF2	9	96418870	Silent	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	1341132	96418870	44794561	60	72770											
GABBR2	9568	broad.mit.edu	37	chr9	101216286	101216286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaccccgaagaagttggtctCgttcatggcattgaggatga	10	10	13	8	2	2	3	1	2	1	1	3	6	2	4	2	3	0	3	2	3	2	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:101216286C>G	ENST00000259455.2	-	7	1672	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	405					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGTTGGTCTCGTTCATGGCA	0.557													51	5					0	0	0	0	G	101216286	C	G	101216286	3	3	379	1	0	0	0	0	1	0	0	0	6204	893	31	3	1664	3	GABBR2	9	101216286	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	4797416	101216286	39997145	61	72771											
IDI2	91734	broad.mit.edu	37	chr10	1065569	1065569	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagccagggggtgactttgActtcacccctcgcctccctc	5	11	9	16	1	1	2	1	2	0	0	4	2	2	2	5	2	1	0	5	2	1	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:1065569A>T	ENST00000277517.1	-	5	636	c.572T>A	c.(571-573)gTc>gAc	p.V191D	GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	191	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GGTGACTTTGACTTCACCCCT	0.562													25	10					0	0	0	0	T	1065569	A	T	1065569	3	4	379	1	0	0	0	0	1	0	0	0	7553	275	10	5	115	5	IDI2	10	1065569	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08		1065569	134469178	62	72772											
ITIH5	80760	broad.mit.edu	37	chr10	7621799	7621799	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgacagtttctccagcAgcctgaagtccacgtcgttg	8	9	10	14	3	1	1	0	1	1	0	4	2	2	1	4	0	3	3	4	0	1	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:7621799A>T	ENST00000256861.6	-	9	1415	c.1337T>A	c.(1336-1338)cTg>cAg	p.L446Q	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.L446Q|ITIH5_ENST00000446830.2_Missense_Mutation_p.L228Q|ITIH5_ENST00000298441.6_Missense_Mutation_p.L232Q|ITIH5_ENST00000397146.2_Missense_Mutation_p.L446Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	446	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTCTCCAGCAGCCTGAAGTC	0.612													31	55					0	0	0	0	T	7621799	A	T	7621799	3	4	379	1	0	0	0	0	1	0	0	0	7960	188	7	5	1638	5	ITIH5	10	7621799	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	6556230	7621799	127912948	63	72773											
RET	5979	broad.mit.edu	37	chr10	43596020	43596020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgggacgcccctgaggagGtgcccagcttccgcctgggc	4	6	16	15	3	0	1	0	1	0	0	1	3	1	3	5	4	3	1	5	4	0	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:43596020G>A	ENST00000355710.3	+	2	419	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	RET_ENST00000340058.5_Missense_Mutation_p.V63M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	63					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCTGAGGAGGTGCCCAGCTT	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	26					0	0	0	0	A	43596020	G	A	43596020	3	1	379	1	0	0	0	0	1	0	0	0	13317	1261	44	4	193	4	RET	10	43596020	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	35974221	43596020	91938727	64	72774											
HNRNPF	3185	broad.mit.edu	37	chr10	43882522	43882522	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgtatctgtggtcatacaTtccggagagacagtagctga	10	10	12	9	2	2	2	1	1	1	1	3	4	3	3	2	2	2	3	2	2	3	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:43882522T>A	ENST00000443950.2	-	3	1297	c.811A>T	c.(811-813)Atg>Ttg	p.M271L	HNRNPF_ENST00000544000.1_Missense_Mutation_p.M271L|HNRNPF_ENST00000357065.4_Missense_Mutation_p.M271L|HNRNPF_ENST00000337970.3_Missense_Mutation_p.M271L|HNRNPF_ENST00000356053.3_Missense_Mutation_p.M271L	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	271					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGGTCATACATTCCGGAGAGA	0.587													7	16					0	0	0	0	A	43882522	T	A	43882522	3	1	379	1	0	0	0	0	1	0	0	0	7315	1493	52	5	440	5	HNRNPF	10	43882522	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	286502	43882522	91652225	65	72775											
NRG3	10718	broad.mit.edu	37	chr10	84733553	84733553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttcccacagtattcaaagGtggaaaggcatcctgtgact	12	11	9	9	0	1	1	1	1	0	0	3	2	3	2	2	3	0	2	2	3	3	3	rs142991883	by1000genomes	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:84733553G>A	ENST00000372142.2	+	8	905	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	NRG3_ENST00000404547.1_Missense_Mutation_p.V432M|NRG3_ENST00000545131.1_Missense_Mutation_p.V82M|NRG3_ENST00000404576.2_Missense_Mutation_p.V236M|NRG3_ENST00000372141.2_Missense_Mutation_p.V432M|NRG3_ENST00000556918.1_Missense_Mutation_p.V262M|NRG3_ENST00000537893.1_Missense_Mutation_p.V82M	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	432	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTATTCAAAGGTGGAAAGGCA	0.473													16	27					0	0	0	0	A	84733553	G	A	84733553	3	1	379	1	0	0	0	0	1	0	0	0	10720	1261	44	4	1488	4	NRG3	10	84733553	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	40851031	84733553	50801194	66	72776											
TNKS2	80351	broad.mit.edu	37	chr10	93579718	93579718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccattacatttggcagCaggatataacagagtaaaga	17	9	8	7	0	0	2	0	0	0	2	1	3	1	3	1	2	4	3	1	2	6	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:93579718C>T	ENST00000371627.4	+	6	1035	c.656C>T	c.(655-657)gCa>gTa	p.A219V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	219					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CATTTGGCAGCAGGATATAAC	0.323													27	33					0	0	0	0	T	93579718	C	T	93579718	3	4	379	1	0	0	0	0	1	0	0	0	16415	710	25	4	678	4	TNKS2	10	93579718	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	8846165	93579718	41955029	67	72777											
SORBS1	10580	broad.mit.edu	37	chr10	97098980	97098980	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccagtggtcgcttgatCacatccacgtaggtgatggg	8	11	12	10	2	2	2	2	2	0	0	4	2	3	2	2	3	0	2	2	3	1	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:97098980C>A	ENST00000371247.2	-	29	2964	c.2775G>T	c.(2773-2775)gtG>gtT	p.V925V	SORBS1_ENST00000371241.1_Silent_p.V575V|SORBS1_ENST00000607232.1_Silent_p.V1185V|SORBS1_ENST00000371227.4_Silent_p.V879V|SORBS1_ENST00000306402.6_Silent_p.V672V|SORBS1_ENST00000347291.4_Silent_p.V737V|SORBS1_ENST00000371246.2_Silent_p.V947V|SORBS1_ENST00000361941.3_Silent_p.V925V|SORBS1_ENST00000371245.3_Silent_p.V776V|SORBS1_ENST00000353505.5_Silent_p.V776V|SORBS1_ENST00000371249.2_Silent_p.V707V|SORBS1_ENST00000354106.3_Silent_p.V895V|SORBS1_ENST00000393949.1_Silent_p.V895V|SORBS1_ENST00000277982.5_Silent_p.V947V|SORBS1_ENST00000371239.1_Silent_p.V702V			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	925	SH3 2.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTCGCTTGATCACATCCACGT	0.557													49	32					5.7616e-29	7.36662e-29	1	0	A	97098980	C	A	97098980	2	1	379	1	0	0	0	0	0	0	0	1	15015	813	29	2		2	SORBS1	10	97098980	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	3519262	97098980	38435767	68	72778											
MMS19	64210	broad.mit.edu	37	chr10	99237134	99237134	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgcataaaattggtgaTgatattgtagactgtgtgtc	10	15	12	4	1	0	3	0	2	0	1	2	3	0	3	0	2	0	3	0	2	4	6			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:99237134T>C	ENST00000438925.2	-	6	798	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000355839.6_Missense_Mutation_p.I155V|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.I155V|MMS19_ENST00000327238.10_Missense_Mutation_p.I155V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	155					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAATTGGTGATGATATTGTAG	0.468								Direct reversal of damage					35	32					0	0	0	0	C	99237134	T	C	99237134	3	2	379	1	0	0	0	0	1	0	0	0	9742	1464	51	5	2733	5	MMS19	10	99237134	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	2138154	99237134	36297613	69	72779											
SEMA4G	57715	broad.mit.edu	37	chr10	102732979	102732979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggctgctggtgggagcccGaggtgccctgttctctctca	5	10	14	12	1	2	0	1	0	2	0	4	2	2	1	2	4	3	3	2	4	1	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:102732979G>A	ENST00000210633.3	+	2	296	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SEMA4G_ENST00000370250.4_Missense_Mutation_p.R73Q|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R73Q|SEMA4G_ENST00000519756.1_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	73	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGGGAGCCCGAGGTGCCCTG	0.602													21	23					0	0	0	0	A	102732979	G	A	102732979	3	1	379	1	0	0	0	0	1	0	0	0	14123	1058	37	1	224	1	SEMA4G	10	102732979	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	3495845	102732979	32801768	70	72780											
ATRNL1	26033	broad.mit.edu	37	chr10	117486782	117486782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcgagaacgacagcagAtggccagccgtccctttgct	8	9	11	13	3	0	2	0	0	0	2	2	4	1	2	3	1	5	3	3	1	1	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:117486782A>T	ENST00000355044.3	+	27	3946	c.3820A>T	c.(3820-3822)Atg>Ttg	p.M1274L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.M325L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.M67L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1274						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACGACAGCAGATGGCCAGCCG	0.458													11	19					0	0	0	0	T	117486782	A	T	117486782	3	4	379	1	0	0	0	0	1	0	0	0	1211	333	12	5	3926	5	ATRNL1	10	117486782	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	14753803	117486782	18047965	71	72781											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122348922	122348922	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaaccctacgttagtctgCgagtcccagcctcactgaag	11	9	8	13	2	2	1	1	1	1	0	3	2	3	1	3	0	4	1	3	0	5	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:122348922C>T	ENST00000398250.1	+	7	1076	c.724C>T	c.(724-726)Cga>Tga	p.R242*	PPAPDC1A_ENST00000369073.3_Nonsense_Mutation_p.R232*|PPAPDC1A_ENST00000439221.1_Nonsense_Mutation_p.R179*|PPAPDC1A_ENST00000398248.1_Silent_p.C91C	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	242					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CGTTAGTCTGCGAGTCCCAGC	0.557													17	66					0	0	0	0	T	122348922	C	T	122348922	4	4	379	1	0	0	0	0	0	1	0	0	12364	760	27	1	750	1	PPAPDC1A	10	122348922	Nonsense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	4862140	122348922	13185825	72	72782											
OR52B6	340980	broad.mit.edu	37	chr11	5602834	5602834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacatccacatcctccaagCagtcttccgcctcctttctc	7	12	3	19	1	2	0	0	0	2	0	8	0	7	0	6	0	2	1	6	0	2	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:5602834C>A	ENST00000345043.2	+	1	728	c.728C>A	c.(727-729)gCa>gAa	p.A243E	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTCCAAGCAGTCTTCCGC	0.498													87	12					7.69131e-47	1.01231e-46	1	0	A	5602834	C	A	5602834	3	1	379	1	0	0	0	0	1	0	0	0	11184	710	25	4	730	4	OR52B6	11	5602834	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08		5602834	129403682	73	72783											
OR56B4	196335	broad.mit.edu	37	chr11	6129291	6129291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatcttctggtttgatGccaaggccattagcctcccc	6	12	9	14	0	2	1	0	1	2	0	3	1	3	1	6	3	2	1	6	3	2	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:6129291G>T	ENST00000316529.3	+	1	378	c.283G>T	c.(283-285)Gcc>Tcc	p.A95S		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGTTTGATGCCAAGGCCAT	0.507													51	11					4.18559e-23	5.20292e-23	1	0	T	6129291	G	T	6129291	3	4	379	1	0	0	0	0	1	0	0	0	11209	1319	46	4	285	4	OR56B4	11	6129291	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	526457	6129291	128877225	74	72784											
CCDC73	493860	broad.mit.edu	37	chr11	32635161	32635161	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggggtctgaaaaattcatGtatactggagttttctcagt	10	14	10	7	1	3	1	2	1	2	0	4	2	3	2	1	3	1	2	1	3	4	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:32635161G>T	ENST00000335185.5	-	16	2746	c.2703C>A	c.(2701-2703)taC>taA	p.Y901*		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	901										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)					AAAAATTCATGTATACTGGAG	0.398													82	9					6.14238e-36	7.96729e-36	1	0	T	32635161	G	T	32635161	4	4	379	1	0	0	0	0	0	1	0	0	2873	1372	48	4	548	4	CCDC73	11	32635161	Nonsense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	26505870	32635161	102371355	75	72785											
CKAP5	9793	broad.mit.edu	37	chr11	46784249	46784249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttgctagctgggtagaCaaggcacatccggttcagga	10	9	12	10	1	2	1	1	0	1	1	3	2	3	2	1	4	2	5	1	4	3	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:46784249C>A	ENST00000529230.1	-	31	4001	c.3955G>T	c.(3955-3957)Gtc>Ttc	p.V1319F	CKAP5_ENST00000312055.5_Missense_Mutation_p.V1319F|CKAP5_ENST00000354558.3_Missense_Mutation_p.V1319F|CKAP5_ENST00000415402.1_Missense_Mutation_p.V1319F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1319					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCTGGGTAGACAAGGCACATC	0.418													13	80					0.00185496	0.00194174	1	0	A	46784249	C	A	46784249	3	1	379	1	0	0	0	0	1	0	0	0	3475	478	17	4	2199	4	CKAP5	11	46784249	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	14149088	46784249	88222267	76	72786											
ZP1	22917	broad.mit.edu	37	chr11	60640752	60640752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccctgcggcttgagctgcgGattgccaaaggtatgctatg	7	10	13	11	2	0	1	0	1	0	0	0	2	0	2	3	3	5	4	3	3	3	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:60640752G>A	ENST00000278853.5	+	7	1230	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	410	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGAGCTGCGGATTGCCAAAG	0.607													26	155					0	0	0	0	A	60640752	G	A	60640752	2	1	379	1	0	0	0	0	0	0	0	1	18308	1161	41	2		2	ZP1	11	60640752	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	13856503	60640752	74365764	77	72787											
BSCL2	26580	broad.mit.edu	37	chr11	62459908	62459908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catacagctggatgcgcttgCtgtggatctcaatgatcgct	8	12	11	10	2	1	1	1	1	1	0	3	3	1	3	0	2	4	4	0	2	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:62459908C>G	ENST00000433053.1	-	7	1359	c.803G>C	c.(802-804)aGc>aCc	p.S268T	BSCL2_ENST00000278893.7_Missense_Mutation_p.S204T|BSCL2_ENST00000360796.5_Missense_Mutation_p.S268T|BSCL2_ENST00000407022.3_Missense_Mutation_p.S204T|BSCL2_ENST00000421906.1_Missense_Mutation_p.S204T|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.S204T|BSCL2_ENST00000405837.1_Missense_Mutation_p.S268T			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	204					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GATGCGCTTGCTGTGGATCTC	0.622													18	47					0	0	0	0	G	62459908	C	G	62459908	3	3	379	1	0	0	0	0	1	0	0	0	1535	797	28	4	609	4	BSCL2	11	62459908	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	1819156	62459908	72546608	78	72788											
FAM76B	143684	broad.mit.edu	37	chr11	95521688	95521688	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaaattctgatctgcAgtaagtacattttacaatag	13	16	7	5	0	2	2	0	2	2	0	2	2	2	2	0	0	3	4	0	0	6	8			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:95521688A>T	ENST00000358780.5	-	2	439	c.127T>A	c.(127-129)Tgc>Agc	p.C43S	FAM76B_ENST00000536839.1_Missense_Mutation_p.C43S|FAM76B_ENST00000538047.1_5'UTR	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	43										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTGATCTGCAGTAAGTACAT	0.353													17	56					0	0	0	0	T	95521688	A	T	95521688	3	4	379	1	0	0	0	0	1	0	0	0	5671	188	7	5	928	5	FAM76B	11	95521688	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	33061780	95521688	39484828	79	72789											
YAP1	10413	broad.mit.edu	37	chr11	101981896	101981896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcccaaatcccactcccGacaggtaacctcgttgcccc	9	6	8	18	2	0	0	0	0	0	0	3	2	2	1	6	2	3	2	6	2	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:101981896G>A	ENST00000282441.5	+	1	705	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	YAP1_ENST00000526343.1_Missense_Mutation_p.R106Q|YAP1_ENST00000531439.1_Missense_Mutation_p.R106Q|YAP1_ENST00000345877.2_Missense_Mutation_p.R106Q|YAP1_ENST00000537274.1_Missense_Mutation_p.R106Q	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	106					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCCCACTCCCGACAGGTAACC	0.701													21	87					0	0	0	0	A	101981896	G	A	101981896	3	1	379	1	0	0	0	0	1	0	0	0	17562	1058	37	1	319	1	YAP1	11	101981896	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	6460208	101981896	33024620	80	72790											
CENPJ	55835	broad.mit.edu	37	chr13	25458472	25458472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaacataccactctttggtCtggcatgacctgcttcacgt	9	12	8	12	1	3	1	1	1	2	0	3	2	3	1	2	2	3	2	2	2	2	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr13:25458472C>G	ENST00000381884.4	-	14	3792	c.3607G>C	c.(3607-3609)Gac>Cac	p.D1203H	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1203					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ACTCTTTGGTCTGGCATGACC	0.438													7	26					0	0	0	0	G	25458472	C	G	25458472	3	3	379	1	0	0	0	0	1	0	0	0	3263	913	32	2	425	2	CENPJ	13	25458472	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08		25458472	89711406	81	72791											
HEATR5A	25938	broad.mit.edu	37	chr14	31790778	31790778	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttgcaaatcgccgaataAcaactaacagcatttcaagg	16	8	7	10	2	1	0	1	0	0	0	2	1	1	0	1	1	5	3	1	1	6	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:31790778A>G	ENST00000543095.2	-	25	4080	c.3896T>C	c.(3895-3897)gTt>gCt	p.V1299A	HEATR5A_ENST00000439727.1_Missense_Mutation_p.V1006A|HEATR5A_ENST00000389961.3_Missense_Mutation_p.V1293A|HEATR5A_ENST00000439348.1_Missense_Mutation_p.V1293A	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1293							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCGCCGAATAACAACTAACAG	0.428													4	11					0	0	0	0	G	31790778	A	G	31790778	3	3	379	1	0	0	0	0	1	0	0	0	7081	43	2	5	2292	5	HEATR5A	14	31790778	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08		31790778	75558762	82	72792											
FOXA1	3169	broad.mit.edu	37	chr14	38060648	38060648	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgagggctcgatggggctCctggtggtcaccgaggcgct	4	8	18	11	3	1	1	1	1	0	0	3	3	2	1	2	6	0	4	2	6	0	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:38060648C>T	ENST00000250448.2	-	2	1402	c.1341G>A	c.(1339-1341)agG>agA	p.R447R	FOXA1_ENST00000540786.1_Silent_p.R414R|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	447					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGATGGGGCTCCTGGTGGTCA	0.612													33	30					0	0	0	0	T	38060648	C	T	38060648	2	4	379	1	0	0	0	0	0	0	0	1	6034	854	30	2		2	FOXA1	14	38060648	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	6269870	38060648	69288892	83	72793											
RTN1	6252	broad.mit.edu	37	chr14	60193673	60193673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcagtgggggcggggCgccaggacctagaggcccag	10	2	18	11	2	0	1	0	0	0	1	0	2	0	2	3	6	2	1	3	6	2	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:60193673C>T	ENST00000267484.5	-	3	2064	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	577					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.A577T(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGGCGGGGCGCCAGGACCT	0.582													15	17					0	0	0	0	T	60193673	C	T	60193673	3	4	379	1	0	0	0	0	1	0	0	0	13810	768	27	1	694	1	RTN1	14	60193673	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	22133025	60193673	47155867	84	72794											
GPHB5	122876	broad.mit.edu	37	chr14	63784523	63784523	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatagccagccagaaggAggagggccatggggccaagg	12	2	17	10	0	0	1	0	0	0	1	0	3	0	3	5	6	3	0	5	6	3	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:63784523A>T	ENST00000539258.1	-	0	97							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity	p.L14P(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AGCCAGAAGGAGGAGGGCCAT	0.577													30	55					0	0	0	0	T	63784523	A	T	63784523	1	4	379	0	1	0	0	0	0	0	0	0	6658	304	11	5		5	GPHB5	14	63784523	RNA	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	3590850	63784523	43565017	85	72795											
SPTB	6710	broad.mit.edu	37	chr14	65260017	65260017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctctcctccagctcctccagGaagtccttgtgctttttccc	4	14	6	17	0	1	0	0	0	1	0	7	1	6	1	6	1	2	2	6	1	1	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:65260017G>C	ENST00000389722.3	-	13	2417	c.2364C>G	c.(2362-2364)ttC>ttG	p.F788L	SPTB_ENST00000542895.1_Missense_Mutation_p.F788L|SPTB_ENST00000389720.3_Missense_Mutation_p.F788L|SPTB_ENST00000556626.1_Missense_Mutation_p.F788L|SPTB_ENST00000389721.5_Missense_Mutation_p.F788L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	788					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCTCCTCCAGGAAGTCCTTGT	0.632													52	117					0	0	0	0	C	65260017	G	C	65260017	3	2	379	1	0	0	0	0	1	0	0	0	15208	1165	41	2	4783	2	SPTB	14	65260017	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	1475494	65260017	42089523	86	72796											
EIF5	1983	broad.mit.edu	37	chr14	103802403	103802403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaatggaatcaagacaGttatagtcaacatggttgac	16	9	10	6	0	2	2	2	1	0	1	2	3	2	3	0	3	1	3	0	3	7	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:103802403G>A	ENST00000216554.3	+	4	779	c.103G>A	c.(103-105)Gtt>Att	p.V35I	EIF5_ENST00000392715.2_Missense_Mutation_p.V35I|EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Missense_Mutation_p.V35I	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	35					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AATCAAGACAGTTATAGTCAA	0.398													19	22					0	0	0	0	A	103802403	G	A	103802403	3	1	379	1	0	0	0	0	1	0	0	0	5078	1029	36	4	109	4	EIF5	14	103802403	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	38542386	103802403	3547137	87	72797											
GABRG3	2567	broad.mit.edu	37	chr15	27772766	27772766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccaaccaccacgaagaaGacaacatcggtgagctgcag	17	3	9	12	2	0	3	0	1	0	2	1	4	0	3	3	1	5	2	3	1	5	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:27772766G>C	ENST00000333743.6	+	8	1307	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	351					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACGAAGAAGACAACATCGG	0.488													6	6					0	0	0	0	C	27772766	G	C	27772766	3	2	379	1	0	0	0	0	1	0	0	0	6221	933	33	2	1083	2	GABRG3	15	27772766	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		27772766	74758626	88	72798											
OCA2	4948	broad.mit.edu	37	chr15	28326847	28326847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggagcccaagagctCtgcccggcagcccccctggg	6	4	13	18	1	1	1	0	0	1	1	1	2	1	2	6	3	5	3	6	3	1	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:28326847C>A	ENST00000354638.3	-	2	329	c.174G>T	c.(172-174)caG>caT	p.Q58H	OCA2_ENST00000382996.2_Missense_Mutation_p.Q58H|OCA2_ENST00000353809.5_Missense_Mutation_p.Q58H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	58					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.Q58H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCCAAGAGCTCTGCCCGGCAG	0.597									Oculocutaneous Albinism				10	20					1.08611e-07	1.20754e-07	1	0	A	28326847	C	A	28326847	3	1	379	1	0	0	0	0	1	0	0	0	10886	912	32	2	2434	2	OCA2	15	28326847	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	554081	28326847	74204545	89	72799											
SLC30A4	7782	broad.mit.edu	37	chr15	45778867	45778867	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagagaccagatatttaaAtcttcgactgaatatacatc	15	12	7	7	1	1	4	0	2	1	2	3	6	1	4	1	0	1	0	1	0	6	6			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:45778867A>G	ENST00000261867.4	-	7	1391	c.1077T>C	c.(1075-1077)gaT>gaC	p.D359D	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	359					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATATTTAAATCTTCGACTG	0.368													43	70					0	0	0	0	G	45778867	A	G	45778867	2	3	379	1	0	0	0	0	0	0	0	1	14645	98	4	5		5	SLC30A4	15	45778867	Silent	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	17452020	45778867	56752525	90	72800											
NEO1	4756	broad.mit.edu	37	chr15	73562574	73562574	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaacaccaagtacaaGgtactgacacatttgccctg	14	7	7	13	0	0	1	0	1	0	0	0	1	0	1	3	1	5	3	3	1	5	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:73562574G>A	ENST00000339362.5	+	18	3165	c.2718_splice	c.e18+1	p.K906_splice	NEO1_ENST00000560262.1_Splice_Site_p.K906_splice|NEO1_ENST00000261908.6_Splice_Site_p.K906_splice|NEO1_ENST00000558964.1_Splice_Site_p.K906_splice			Q92859	NEO1_HUMAN	neogenin 1	906	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAAGTACAAGGTACTGACAC	0.428													13	34					0	0	0	0	A	73562574	G	A	73562574	5	1	379	1	0	0	0	0	0	0	1	0	10406	1014	35	4	2784	4	NEO1	15	73562574	Splice_Site	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	27783707	73562574	28968818	91	72801											
PIGQ	9091	broad.mit.edu	37	chr16	624086	624086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggcatggtgctcaaGgccttcttccccacgtgctg	4	10	10	17	2	2	0	1	0	1	0	4	0	4	0	5	3	2	3	5	3	1	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:624086G>T	ENST00000321878.5	+	2	171	c.12G>T	c.(10-12)aaG>aaT	p.K4N	PIGQ_ENST00000026218.5_Missense_Mutation_p.K4N|PIGQ_ENST00000409527.2_Missense_Mutation_p.K4N|PIGQ_ENST00000470411.2_Missense_Mutation_p.K4N	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	4					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGTGCTCAAGGCCTTCTTCC	0.692													7	43					0.00307968	0.00318649	1	0	T	624086	G	T	624086	3	4	379	1	0	0	0	0	1	0	0	0	11968	991	35	4	14	4	PIGQ	16	624086	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		624086	89730667	92	72802											
VWA3A	146177	broad.mit.edu	37	chr16	22155589	22155589	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcaaaatatgggctcAaaaaattgaagctggagatt	15	9	13	4	0	1	2	1	1	0	1	1	3	1	2	0	4	1	3	0	4	7	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:22155589A>C	ENST00000389398.5	+	26	2710	c.2614A>C	c.(2614-2616)Aaa>Caa	p.K872Q	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	872						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ATATGGGCTCAAAAAATTGAA	0.438													14	10					0	0	0	0	C	22155589	A	C	22155589	3	2	379	1	0	0	0	0	1	0	0	0	17336	131	5	5	2716	5	VWA3A	16	22155589	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	21531503	22155589	68199164	93	72803											
CX3CL1	6376	broad.mit.edu	37	chr16	57416310	57416310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtgggcacggagcttttccGagtgcctcccgtctccactg	4	11	12	14	3	1	0	0	0	1	0	4	2	3	1	4	2	2	2	4	2	0	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:57416310G>C	ENST00000565912.1	+	2	3152	c.446G>C	c.(445-447)cGa>cCa	p.R149P	CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000006053.6_Missense_Mutation_p.R187P|CX3CL1_ENST00000563383.1_Missense_Mutation_p.R193P			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	187	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGCTTTTCCGAGTGCCTCCC	0.682													21	65					0	0	0	0	C	57416310	G	C	57416310	3	2	379	1	0	0	0	0	1	0	0	0	4106	1058	37	3	570	3	CX3CL1	16	57416310	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	35260721	57416310	32938443	94	72804											
TXNL4B	54957	broad.mit.edu	37	chr16	72122887	72122887	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcaactgcacttaccCataatccactttcatatgct	12	13	3	13	0	3	1	3	0	0	1	4	1	4	1	2	0	4	2	2	0	4	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:72122887C>A	ENST00000268483.3	-	3	604	c.284_splice	c.e3+1	p.G95_splice	TXNL4B_ENST00000426362.2_Splice_Site_p.G95_splice|TXNL4B_ENST00000423037.1_Splice_Site_p.G95_splice	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	95					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TGCACTTACCCATAATCCACT	0.383													48	29					4.33383e-22	5.35004e-22	1	0	A	72122887	C	A	72122887	5	1	379	1	0	0	0	0	0	0	1	0	16902	608	21	4	174	4	TXNL4B	16	72122887	Splice_Site	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	14706577	72122887	18231866	95	72805											
ZCCHC14	23174	broad.mit.edu	37	chr16	87525410	87525410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgcttctggtggaagctGaaggccgggtggttggaggc	6	9	18	8	1	1	1	0	1	1	0	1	3	1	3	2	7	2	3	2	7	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:87525410G>A	ENST00000268616.4	-	1	241	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	8					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGTGGAAGCTGAAGGCCGGGT	0.677													31	17					0	0	0	0	A	87525410	G	A	87525410	2	1	379	1	0	0	0	0	0	0	0	1	17678	1281	45	2		2	ZCCHC14	16	87525410	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	15402523	87525410	2829343	96	72806											
ANKRD11	29123	broad.mit.edu	37	chr16	89349566	89349566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccgctccccatgcagctGtctctgtcgtcctcactctc	5	11	6	19	2	3	0	1	0	2	0	8	0	5	0	4	0	3	3	4	0	1	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:89349566G>A	ENST00000301030.4	-	9	3844	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D	ANKRD11_ENST00000378330.2_Silent_p.D1128D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1128	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCATGCAGCTGTCTCTGTCGT	0.542													124	48					0	0	0	0	A	89349566	G	A	89349566	2	1	379	1	0	0	0	0	0	0	0	1	639	1368	48	4		4	ANKRD11	16	89349566	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	1824156	89349566	1005187	97	72807											
DEF8	54849	broad.mit.edu	37	chr16	90032319	90032319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtgtgcccggctcaGcctgaggaagcagtcgctct	7	8	12	14	2	2	1	1	1	1	0	4	2	3	2	3	2	3	3	3	2	2	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:90032319G>A	ENST00000563594.1	+	13	2301	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	DEF8_ENST00000268676.7_Missense_Mutation_p.S496N|DEF8_ENST00000563795.1_Missense_Mutation_p.S418N|DEF8_ENST00000567874.1_Missense_Mutation_p.S375N|DEF8_ENST00000569453.1_Missense_Mutation_p.S435N|DEF8_ENST00000570182.1_Missense_Mutation_p.S425N	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	496					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCCCGGCTCAGCCTGAGGAAG	0.652													15	26					0	0	0	0	A	90032319	G	A	90032319	3	1	379	1	0	0	0	0	1	0	0	0	4419	971	34	4	1613	4	DEF8	16	90032319	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	682753	90032319	322434	98	72808											
TP53	7157	broad.mit.edu	37	chr17	7578547	7578547	+	Frame_Shift_Del	DEL	G	G	-																															aaaacatcttgttgagggcaGgggagtactgtaggaagagg																										TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:7578547delG	ENST00000420246.2	-	5	515	c.383delC	c.(382-384)ctfs	p.P128fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.P128fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P128fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P128fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	128	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.Y126fs*18(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)		GTTGAGGGCAGGGGAGTACTG	0.562		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)			65	8	---	---	---	---					-	7578547	G	-	7578547	7	5	379	1	0	1	0	1	0	0	0	0	16476	1000	35	0	915	0	TP53	17	7578547	Frame_Shift_Del	DEL	G	TCGA-D6-A6EP-01A-11D-A31L-08		7578547	73616663	99	72809											
KDM6B	23135	broad.mit.edu	37	chr17	7752161	7752161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccgccctgccgcccacctCagcggcccctagcgcccagg	5	4	10	22	4	1	0	1	0	0	0	1	0	1	0	8	2	4	0	8	2	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:7752161C>T	ENST00000254846.5	+	11	2944	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L	KDM6B_ENST00000448097.2_Missense_Mutation_p.S852L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	852	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGCCCACCTCAGCGGCCCCT	0.716													209	14					0	0	0	0	T	7752161	C	T	7752161	3	4	379	1	0	0	0	0	1	0	0	0	8190	838	29	2	2585	2	KDM6B	17	7752161	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	173614	7752161	73443049	100	72810											
MYH2	4620	broad.mit.edu	37	chr17	10428651	10428651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaatctgttccgtgaGgtcagaaatctcctctgttg	7	15	9	10	1	5	2	1	1	4	1	7	2	6	2	2	1	1	3	2	1	2	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:10428651G>T	ENST00000245503.5	-	33	4936	c.4552C>A	c.(4552-4554)Ctc>Atc	p.L1518I	MYH2_ENST00000397183.2_Missense_Mutation_p.L1518I|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1518					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTTCCGTGAGGTCAGAAATC	0.383													31	31					4.02929e-09	4.56482e-09	1	0	T	10428651	G	T	10428651	3	4	379	1	0	0	0	0	1	0	0	0	10105	1000	35	4	1305	4	MYH2	17	10428651	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	2676490	10428651	70766559	101	72811											
SAMD14	201191	broad.mit.edu	37	chr17	48195666	48195666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgctgtccagtctggcCgtctctggcacagccaagtc	8	9	10	14	1	2	0	0	0	2	0	5	0	3	0	3	2	3	2	3	2	2	0	rs145637965		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:48195666C>T	ENST00000330175.4	-	3	386	c.69G>A	c.(67-69)acG>acA	p.T23T	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Silent_p.T23T	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	23										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CCAGTCTGGCCGTCTCTGGCA	0.662													22	36					0	0	0	0	T	48195666	C	T	48195666	2	4	379	1	0	0	0	0	0	0	0	1	13904	639	23	1		1	SAMD14	17	48195666	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	37767015	48195666	32999544	102	72812											
VEZF1	7716	broad.mit.edu	37	chr17	56060120	56060120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgatgcctccttcatgaGacctcacatggtaagtcatc	9	12	9	11	0	3	2	3	2	0	1	5	3	4	2	3	2	1	1	3	2	1	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:56060120G>C	ENST00000584396.1	-	2	729	c.641C>G	c.(640-642)tCt>tGt	p.S214C	VEZF1_ENST00000581208.1_Missense_Mutation_p.S223C			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	223					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TCCTTCATGAGACCTCACATG	0.448													55	4					0	0	0	0	C	56060120	G	C	56060120	3	2	379	1	0	0	0	0	1	0	0	0	17251	942	33	2	917	2	VEZF1	17	56060120	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	7864454	56060120	25135090	103	72813											
TRIM47	91107	broad.mit.edu	37	chr17	73872555	73872555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccggctcaccctctcccGctctgctacggctgcactct	4	9	8	20	3	4	0	1	0	3	0	5	0	4	0	3	2	4	5	3	2	1	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:73872555G>A	ENST00000254816.2	-	3	816	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.R26W	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	264						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCCTCTCCCGCTCTGCTACG	0.652													8	25					0	0	0	0	A	73872555	G	A	73872555	3	1	379	1	0	0	0	0	1	0	0	0	16617	1086	38	1	1142	1	TRIM47	17	73872555	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	17812435	73872555	7322655	104	72814											
FOXJ1	2302	broad.mit.edu	37	chr17	74133646	74133648	+	In_Frame_Del	DEL	GGC	GGC	-																															ggtggcagggcagtcgatgtGgcggccgtggatggtgaggt																										TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:74133646_74133648delGGC	ENST00000322957.6	-	3	1406_1408	c.1052_1054delGCC	c.(1051-1056)cac>c	p.RH351del		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	351					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGTCGATGTGGCGGCCGTGGAT	0.69													7	3	---	---	---	---					-	74133648	GGC	-	74133646	7	5	379	1	0	1	0	1	0	0	0	0	6058	1348	47	0	215	0	FOXJ1	17	74133646	In_Frame_Del	DEL	GGC	TCGA-D6-A6EP-01A-11D-A31L-08	261091	74133646	7061564	105	72815											
TBCD	6904	broad.mit.edu	37	chr17	80828234	80828234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgagcctcaggagctgaagCcctttgtgactgcaatctcg	9	10	11	11	1	2	3	1	3	1	0	3	4	2	4	2	1	4	2	2	1	2	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:80828234C>G	ENST00000355528.4	+	14	1583	c.1453C>G	c.(1453-1455)Ccc>Gcc	p.P485A	TBCD_ENST00000397466.2_Missense_Mutation_p.P99A|TBCD_ENST00000539345.2_Missense_Mutation_p.P485A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	485					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGAGCTGAAGCCCTTTGTGAC	0.647													27	3					0	0	0	0	G	80828234	C	G	80828234	3	3	379	1	0	0	0	0	1	0	0	0	15727	739	26	4	1507	4	TBCD	17	80828234	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	6694588	80828234	366976	106	72816											
ANKRD12	23253	broad.mit.edu	37	chr18	9256432	9256432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agataagcctaaacctaagtCatcaccagcatcaaaagata	19	7	5	10	0	3	2	3	0	0	2	3	2	3	2	3	0	3	1	3	0	7	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:9256432C>T	ENST00000383440.2	+	8	3355	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1056L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1033L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1056						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAACCTAAGTCATCACCAGCA	0.328													51	56					0	0	0	0	T	9256432	C	T	9256432	3	4	379	1	0	0	0	0	1	0	0	0	640	838	29	2	3197	2	ANKRD12	18	9256432	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08		9256432	68820816	107	72817											
WDR7	23335	broad.mit.edu	37	chr18	54385306	54385306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgtcacctttttcctattCaagtaatcaaatggaggcct	10	14	6	11	1	3	0	3	0	0	0	5	1	4	1	3	2	0	1	3	2	4	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:54385306C>G	ENST00000254442.3	+	13	1901	c.1690C>G	c.(1690-1692)Caa>Gaa	p.Q564E	WDR7_ENST00000357574.3_Missense_Mutation_p.Q564E|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	564										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTTCCTATTCAAGTAATCAA	0.443													38	20					0	0	0	0	G	54385306	C	G	54385306	3	3	379	1	0	0	0	0	1	0	0	0	17416	827	29	2	1736	2	WDR7	18	54385306	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	45128874	54385306	23691942	108	72818											
PHLPP1	23239	broad.mit.edu	37	chr18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-																															tgaagcatcaccaggagcaaCagcagcagcagcagccgcca																										TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:60646563_60646565delCAG	ENST00000400316.4	+	17	5298_5300	c.3517_3519delCAG	c.(3517-3519)del	p.Q1177del	PHLPP1_ENST00000262719.5_In_Frame_Del_p.Q1689del	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1689	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ccaggagcaacagcagcagcagc	0.586													2	4	---	---	---	---					-	60646565	CAG	-	60646563	7	5	379	1	0	1	0	1	0	0	0	0	11926	479	17	0	5119	0	PHLPP1	18	60646563	In_Frame_Del	DEL	CAG	TCGA-D6-A6EP-01A-11D-A31L-08	6261257	60646563	17430685	109	72819											
CDH7	1005	broad.mit.edu	37	chr18	63526202	63526202	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctatgtggccatcactAtacttgacatcaatgataac	13	11	8	9	0	2	2	2	2	0	0	2	3	2	2	1	2	2	1	1	2	5	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:63526202A>T	ENST00000536984.2	+	9	2108	c.1414A>T	c.(1414-1416)Ata>Tta	p.I472L	CDH7_ENST00000323011.3_Missense_Mutation_p.I472L|CDH7_ENST00000397968.2_Missense_Mutation_p.I472L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCCATCACTATACTTGACAT	0.428													17	13					0	0	0	0	T	63526202	A	T	63526202	3	4	379	1	0	0	0	0	1	0	0	0	3144	449	16	5	1444	5	CDH7	18	63526202	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08	2879639	63526202	14551046	110	72820											
ABCA7	10347	broad.mit.edu	37	chr19	1049416	1049416	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccttcctgggccacaacggGgccggcaagaccaccaccct	8	4	11	18	2	0	1	0	0	0	1	1	1	1	1	7	4	1	1	7	4	2	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:1049416G>T	ENST00000263094.6	+	18	2763	c.2532G>T	c.(2530-2532)ggG>ggT	p.G844G	ABCA7_ENST00000435683.2_Silent_p.G706G|ABCA7_ENST00000433129.1_Silent_p.G844G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	844	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			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)		GCCACAACGGGGCCGGCAAGA	0.711													20	44					3.8784e-16	4.56733e-16	1	0	T	1049416	G	T	1049416	2	4	379	1	0	0	0	0	0	0	0	1	37	1219	43	4		4	ABCA7	19	1049416	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08		1049416	58079567	111	72821											
LRRC8E	80131	broad.mit.edu	37	chr19	7964334	7964334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccaaggcccacctcttCtccaagctggccttctgtta	8	10	6	17	0	3	0	0	0	3	0	4	0	3	0	5	2	1	2	5	2	3	3			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:7964334C>A	ENST00000306708.6	+	3	1028	c.927C>A	c.(925-927)ttC>ttA	p.F309L	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	309						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCCACCTCTTCTCCAAGCTGG	0.557													19	25					1.33834e-09	1.52587e-09	1	0	A	7964334	C	A	7964334	3	1	379	1	0	0	0	0	1	0	0	0	9089	912	32	2	933	2	LRRC8E	19	7964334	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	6914918	7964334	51164649	112	72822											
CYP4F12	66002	broad.mit.edu	37	chr19	15791302	15791302	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtcctatataacgatCttcaacaagagtgcaaacat	16	10	6	9	1	2	2	1	1	1	1	3	3	3	2	1	0	4	1	1	0	7	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:15791302C>A	ENST00000550308.1	+	5	878	c.498C>A	c.(496-498)atC>atA	p.I166I	CYP4F12_ENST00000324632.9_Silent_p.I166I	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATATAACGATCTTCAACAAGA	0.532													38	25					6.5261e-18	7.84008e-18	1	0	A	15791302	C	A	15791302	2	1	379	1	0	0	0	0	0	0	0	1	4219	903	32	2		2	CYP4F12	19	15791302	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	7826968	15791302	43337681	113	72823											
COPE	11316	broad.mit.edu	37	chr19	19014116	19014116	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaggccctcagcggcctcCcagcggccctgggccatgtg	5	5	14	17	2	1	0	1	0	0	0	2	0	2	0	5	4	3	1	5	4	0	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:19014116C>T	ENST00000600932.1	-	8	796	c.765G>A	c.(763-765)tgG>tgA	p.W255*	COPE_ENST00000351079.4_Nonsense_Mutation_p.W181*|COPE_ENST00000349893.4_Intron|COPE_ENST00000262812.4_Nonsense_Mutation_p.W232*|COPE_ENST00000598969.1_5'UTR			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	232					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CAGCGGCCTCCCAGCGGCCCT	0.672													13	32					0	0	0	0	T	19014116	C	T	19014116	4	4	379	1	0	0	0	0	0	1	0	0	3760	624	22	4	246	4	COPE	19	19014116	Nonsense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	3222814	19014116	40114867	114	72824											
WDR88	126248	broad.mit.edu	37	chr19	33666381	33666381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccaatgcgtgttctgccGgatagatacaaggggcttgc	9	9	12	11	2	1	1	0	0	1	1	1	2	1	2	2	3	4	2	2	3	4	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:33666381G>A	ENST00000355868.3	+	11	1398	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	WDR88_ENST00000361680.2_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	441										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GTGTTCTGCCGGATAGATACA	0.483													72	33					0	0	0	0	A	33666381	G	A	33666381	3	1	379	1	0	0	0	0	1	0	0	0	17431	1116	39	1	1364	1	WDR88	19	33666381	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	14652265	33666381	25462602	115	72825											
PRR19	284338	broad.mit.edu	37	chr19	42814891	42814891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacccatgagactgtactGaggagaggctgaggctaggg	10	7	15	9	0	0	4	0	3	0	2	1	6	1	4	2	4	1	3	2	4	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:42814891G>A	ENST00000499536.2	+	2	1881	c.1070G>A	c.(1069-1071)tGa>tAa	p.*357*	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Silent_p.*357*			A6NJB7	PRR19_HUMAN	proline rich 19	0										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				AGACTGTACTGAGGAGAGGCT	0.552													15	45					0	0	0	0	A	42814891	G	A	42814891	2	1	379	1	0	0	0	0	0	0	0	1	12671	1285	45	2		2	PRR19	19	42814891	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	9148510	42814891	16314092	116	72826											
NLRP7	199713	broad.mit.edu	37	chr19	55452898	55452898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatccaattttctgaggagGtgttgaccagaatttctgcc	9	15	9	8	0	2	3	0	2	2	1	3	4	3	4	3	2	1	1	3	2	3	5			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:55452898G>C	ENST00000446217.1	-	4	668	c.266C>G	c.(265-267)aCc>aGc	p.T89S	NLRP7_ENST00000328092.5_Missense_Mutation_p.T61S|NLRP7_ENST00000448121.2_Missense_Mutation_p.T61S|NLRP7_ENST00000592784.1_Missense_Mutation_p.T61S|NLRP7_ENST00000590030.1_Missense_Mutation_p.T61S|NLRP7_ENST00000588756.1_Missense_Mutation_p.T61S|NLRP7_ENST00000340844.2_Missense_Mutation_p.T61S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	61	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTGAGGAGGTGTTGACCAG	0.468													32	56					0	0	0	0	C	55452898	G	C	55452898	3	2	379	1	0	0	0	0	1	0	0	0	10552	1261	44	4	2971	4	NLRP7	19	55452898	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	12638007	55452898	3676085	117	72827											
ZNF671	79891	broad.mit.edu	37	chr19	58238811	58238811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcgcggacagctgccGggagcggcaggcgtctcgat	5	5	19	12	7	1	0	0	0	1	0	2	3	1	2	1	5	3	2	1	5	0	0			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:58238811G>A	ENST00000317398.6	-	1	181	c.86C>T	c.(85-87)cCg>cTg	p.P29L	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.P29L	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACAGCTGCCGGGAGCGGCAG	0.687													8	21					0	0	0	0	A	58238811	G	A	58238811	3	1	379	1	0	0	0	0	1	0	0	0	18173	1116	39	1	1534	1	ZNF671	19	58238811	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	2785913	58238811	890172	118	72828											
A1BG	1	broad.mit.edu	37	chr19	58864318	58864318	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtcagctccaggagctTgctcagctgggtccatcctg	5	10	11	15	0	2	0	2	0	0	0	5	1	5	1	4	2	4	4	4	2	0	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:58864318T>A	ENST00000263100.3	-	3	377	c.316A>T	c.(316-318)Aag>Tag	p.K106*	A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	106	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCCAGGAGCTTGCTCAGCTGG	0.637													87	48					0	0	0	0	A	58864318	T	A	58864318	4	1	379	1	0	0	0	0	0	1	0	0	1	1821	63	5	1195	5	A1BG	19	58864318	Nonsense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	625507	58864318	264665	119	72829											
MAVS	57506	broad.mit.edu	37	chr20	3846449	3846449	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcctggcgtgctggcatcCcaggtagacagcccgttctc	7	8	12	14	2	1	1	0	0	1	1	3	1	2	1	3	3	3	4	3	3	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:3846449C>A	ENST00000428216.2	+	7	1406	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.S285S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	426					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTGGCATCCCAGGTAGACA	0.642													21	30					1.96292e-10	2.25233e-10	1	0	A	3846449	C	A	3846449	2	1	379	1	0	0	0	0	0	0	0	1	9407	610	22	4		4	MAVS	20	3846449	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08		3846449	59179071	120	72830											
PAK7	57144	broad.mit.edu	37	chr20	9546608	9546608	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcactgcaacttgtttccCtgtgtgtttctcggtggcga	4	16	10	11	2	2	0	1	0	1	0	4	1	3	0	1	2	2	3	1	2	1	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:9546608C>G	ENST00000378429.3	-	6	1960	c.1414G>C	c.(1414-1416)Ggg>Cgg	p.G472R	PAK7_ENST00000378423.1_Missense_Mutation_p.G472R|PAK7_ENST00000353224.5_Missense_Mutation_p.G472R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	472	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTTGTTTCCCTGTGTGTTTC	0.502													21	87					0	0	0	0	G	9546608	C	G	9546608	3	3	379	1	0	0	0	0	1	0	0	0	11476	681	24	4	769	4	PAK7	20	9546608	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	5700159	9546608	53478912	121	72831											
NFS1	9054	broad.mit.edu	37	chr20	34262286	34262286	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctccctgaggataaGgcaacgtccttcagtgccat	9	9	9	14	1	2	1	2	1	0	0	4	2	4	2	4	2	2	2	4	2	2	2			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:34262286G>T	ENST00000374092.4	-	10	1192	c.1122C>A	c.(1120-1122)gcC>gcA	p.A374A	NFS1_ENST00000540053.1_Silent_p.A172A|NFS1_ENST00000541387.1_Silent_p.A323A|NFS1_ENST00000374085.1_Silent_p.A314A|NFS1_ENST00000397425.1_Silent_p.A314A	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	374					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGAGGATAAGGCAACGTCCT	0.512													41	76					9.39024e-22	1.15127e-21	1	0	T	34262286	G	T	34262286	2	4	379	1	0	0	0	0	0	0	0	1	10455	987	35	4		4	NFS1	20	34262286	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	24715678	34262286	28763234	122	72832											
PTGIS	5740	broad.mit.edu	37	chr20	48164423	48164423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgtaatgtggaagcTgcacatcaaaaatcctctcc	11	10	10	10	0	2	0	1	0	1	0	4	1	3	1	2	3	2	4	2	3	4	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:48164423T>C	ENST00000244043.4	-	3	361	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	111					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ATGTGGAAGCTGCACATCAAA	0.567													106	137					0	0	0	0	C	48164423	T	C	48164423	3	2	379	1	0	0	0	0	1	0	0	0	12832	1580	55	5	1202	5	PTGIS	20	48164423	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08	13902137	48164423	14861097	123	72833											
COL9A3	1299	broad.mit.edu	37	chr20	61458626	61458626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggggcccagaagggttcCgcggccccaagggtgacctc	8	4	16	13	2	0	3	0	1	0	2	2	3	1	3	5	5	0	1	5	5	2	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:61458626C>T	ENST00000343916.3	+	16	829	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	276	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGAAGGGTTCCGCGGCCCCAA	0.612													31	28					0	0	0	0	T	61458626	C	T	61458626	3	4	379	1	0	0	0	0	1	0	0	0	3739	652	23	1	888	1	COL9A3	20	61458626	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	13294203	61458626	1566894	124	72834											
TCP10L	140290	broad.mit.edu	37	chr21	33949207	33949207	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggtgttttccacgagctAattctttctatctttaaact	8	18	7	8	1	3	0	0	0	3	0	4	1	4	0	1	2	2	2	1	2	4	8			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr21:33949207A>C	ENST00000300258.3	-	5	638	c.525T>G	c.(523-525)atT>atG	p.I175M	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCACGAGCTAATTCTTTCTA	0.353													74	9					0	0	0	0	C	33949207	A	C	33949207	3	2	379	1	0	0	0	0	1	0	0	0	15805	358	13	5	126	5	TCP10L	21	33949207	Missense_Mutation	SNP	A	TCGA-D6-A6EP-01A-11D-A31L-08		33949207	14180688	125	72835											
SLC2A11	66035	broad.mit.edu	37	chr22	24224735	24224735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagggctgccgtgccCggcgcccatgggagctgttc	3	7	15	16	3	0	0	0	0	0	0	1	1	0	1	5	3	4	3	5	3	0	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:24224735C>T	ENST00000345044.6	+	7	1043	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	SLC2A11_ENST00000398356.2_Missense_Mutation_p.R266W|SLC2A11_ENST00000316185.8_Missense_Mutation_p.R262W|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	259						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGCCGTGCCCGGCGCCCATG	0.697													11	17					0	0	0	0	T	24224735	C	T	24224735	3	4	379	1	0	0	0	0	1	0	0	0	14628	643	23	1	881	1	SLC2A11	22	24224735	Missense_Mutation	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08		24224735	27079831	126	72836											
MCHR1	2847	broad.mit.edu	37	chr22	41077549	41077549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtggtcatcacagccGcatacgtgaggatcctgcag	8	11	11	11	2	2	1	2	1	0	0	3	2	3	2	2	2	3	2	2	2	1	3	rs149149384	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:41077549G>A	ENST00000249016.4	+	2	1582	c.886G>A	c.(886-888)Gca>Aca	p.A296T	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	296					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CATCACAGCCGCATACGTGAG	0.622													76	32					0	0	0	0	A	41077549	G	A	41077549	3	1	379	1	0	0	0	0	1	0	0	0	9451	1087	38	1	892	1	MCHR1	22	41077549	Missense_Mutation	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	16852814	41077549	10227017	127	72837											
CELSR1	9620	broad.mit.edu	37	chr22	46774557	46774557	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactggcaggcgacatgtgtCcggttcctggacaggagctc	7	8	14	12	2	0	0	0	0	0	0	3	3	2	2	2	5	1	3	2	5	0	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:46774557C>A	ENST00000262738.3	-	23	7313	c.7314G>T	c.(7312-7314)cgG>cgT	p.R2438R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2438	GPS.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGACATGTGTCCGGTTCCTGG	0.657													6	12					8.12818e-05	8.66039e-05	1	0	A	46774557	C	A	46774557	2	1	379	1	0	0	0	0	0	0	0	1	3250	842	30	2		2	CELSR1	22	46774557	Silent	SNP	C	TCGA-D6-A6EP-01A-11D-A31L-08	5697008	46774557	4530009	128	72838											
BEND2	139105	broad.mit.edu	37	chrX	18221819	18221819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttcagcacctccactgaTaaagttccatggcataccga	12	10	6	13	1	1	1	1	1	0	0	3	2	3	1	4	1	2	3	4	1	3	4			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:18221819T>C	ENST00000380033.4	-	5	841	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	BEND2_ENST00000380030.3_Missense_Mutation_p.I237V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	237										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCTCCACTGATAAAGTTCCAT	0.448													58	5					0	0	0	0	C	18221819	T	C	18221819	3	2	379	1	0	0	0	0	1	0	0	0	1402	1406	49	5	1756	5	BEND2	23	18221819	Missense_Mutation	SNP	T	TCGA-D6-A6EP-01A-11D-A31L-08		18221819	137048741	129	72839											
DMD	1756	broad.mit.edu	37	chrX	32834617	32834617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgagagcattcaaagccagGccatcagaccagctggtggt	12	7	12	10	0	2	2	2	1	0	2	2	3	2	2	3	3	3	2	3	3	1	1			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:32834617G>A	ENST00000357033.4	-	6	704	c.498C>T	c.(496-498)ggC>ggT	p.G166G	DMD_ENST00000378677.2_Silent_p.G162G|DMD_ENST00000288447.4_Silent_p.G158G	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	166	Actin-binding.|CH 2.				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			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)				TCAAAGCCAGGCCATCAGACC	0.388													19	19					0	0	0	0	A	32834617	G	A	32834617	2	1	379	1	0	0	0	0	0	0	0	1	4617	1190	42	4		4	DMD	23	32834617	Silent	SNP	G	TCGA-D6-A6EP-01A-11D-A31L-08	14612798	32834617	122435943	130	72840											
TNFRSF14	8764	broad.mit.edu	37	chr1	2491372	2491372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccactgcgccgcgtgcCgcgcttacgccacctccagc	5	5	12	19	6	0	0	0	0	0	0	1	1	1	1	6	1	4	1	6	1	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:2491372C>T	ENST00000355716.4	+	4	714	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	TNFRSF14_ENST00000409119.1_Missense_Mutation_p.R139C	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	139					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CGCCGCGTGCCGCGCTTACGC	0.701			"Mis, N, F"		follicular lymphoma								16	7					0	0	0	0	T	2491372	C	T	2491372	3	4	380	1	0	0	0	0	1	0	0	0	16383	652	23	1	429	1	TNFRSF14	1	2491372	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		2491372	246759249	1	72841											
PLEKHG5	57449	broad.mit.edu	37	chr1	6530577	6530577	+	Frame_Shift_Del	DEL	C	C	-																															cacgcccaccttgtccacttCgtcgctgctgctttccacca																										TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:6530577delC	ENST00000377748.1	-	16	2397	c.1900delG	c.(1900-1902)aafs	p.E634fs	PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E636fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E626fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E594fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E634fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000400915.3_Frame_Shift_Del_p.E613fs	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	613					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTCCACTTCGTCGCTGCTG	0.687													32	72	---	---	---	---					-	6530577	C	-	6530577	7	5	380	1	0	1	0	1	0	0	0	0	12145	893	31	0	1379	0	PLEKHG5	1	6530577	Frame_Shift_Del	DEL	C	TCGA-D6-A6EQ-01A-11D-A31L-08	4039205	6530577	242720044	2	72842											
PQLC2	54896	broad.mit.edu	37	chr1	19652808	19652808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccacaccgctgctgagtgCtgctgggcccgtggctgccc	3	7	14	17	3	0	1	0	1	0	0	0	1	0	1	4	2	4	5	4	2	0	0			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:19652808C>A	ENST00000375153.3	+	5	1092	c.452C>A	c.(451-453)gCt>gAt	p.A151D	PQLC2_ENST00000375155.3_Missense_Mutation_p.A151D|PQLC2_ENST00000400548.2_Missense_Mutation_p.A86D	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	151						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGAGTGCTGCTGGGCCC	0.677													3	34					1	1	1	0	A	19652808	C	A	19652808	3	1	380	1	0	0	0	0	1	0	0	0	12495	797	28	4	466	4	PQLC2	1	19652808	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	13122231	19652808	229597813	3	72843											
CYP4Z1	199974	broad.mit.edu	37	chr1	47583530	47583530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggctccagaccactcaaGgcctccccagcctgttcgtc	6	8	9	18	1	1	1	1	0	0	1	5	1	3	1	6	2	1	3	6	2	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:47583530G>T	ENST00000334194.3	+	12	1445	c.1442G>T	c.(1441-1443)aGg>aTg	p.R481M	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	481						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GACCACTCAAGGCCTCCCCAG	0.453													15	41					8.60227e-14	9.58139e-14	1	0	T	47583530	G	T	47583530	3	4	380	1	0	0	0	0	1	0	0	0	4226	1000	35	4	1488	4	CYP4Z1	1	47583530	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	27930722	47583530	201667091	4	72844											
CYB5RL	606495	broad.mit.edu	37	chr1	54640384	54640384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgagccacagaccagtgCgaatggctttctccgacagc	10	6	11	14	3	1	1	0	0	1	1	2	4	1	1	4	1	4	1	4	1	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:54640384C>A	ENST00000419823.2	-	7	1080	c.856G>T	c.(856-858)Gca>Tca	p.A286S	CYB5RL_ENST00000401046.3_Missense_Mutation_p.A138S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.A218S|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Missense_Mutation_p.A286S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.A218S|CYB5RL_ENST00000534324.1_Missense_Mutation_p.A286S	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	286							cytochrome-b5 reductase activity	p.A286T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CAGACCAGTGCGAATGGCTTT	0.552													9	26					3.86212e-05	4.00841e-05	1	0	A	54640384	C	A	54640384	3	1	380	1	0	0	0	0	1	0	0	0	4162	768	27	3	95	3	CYB5RL	1	54640384	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	7056854	54640384	194610237	5	72845											
AK5	26289	broad.mit.edu	37	chr1	77752791	77752791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaaatggaggacagtcaCggagatcctttctaagaaat	15	9	9	8	1	2	2	1	0	1	2	3	5	3	4	1	3	0	0	1	3	4	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:77752791C>T	ENST00000344720.5	+	2	1174	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.R76W	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	76					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGGACAGTCACGGAGATCCTT	0.368													18	50					0	0	0	0	T	77752791	C	T	77752791	3	4	380	1	0	0	0	0	1	0	0	0	443	527	19	1	232	1	AK5	1	77752791	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	23112407	77752791	171497830	6	72846											
GPR61	83873	broad.mit.edu	37	chr1	110086714	110086714	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcagcaagcagtttgTctgcttcttcaagccagctc	8	11	10	12	0	4	0	2	0	2	0	5	1	4	1	1	1	6	6	1	1	2	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:110086714T>C	ENST00000527748.1	+	2	1753	c.1070T>C	c.(1069-1071)gTc>gCc	p.V357A		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	357						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGCAGTTTGTCTGCTTCTTC	0.557													36	47					0	0	0	0	C	110086714	T	C	110086714	3	2	380	1	0	0	0	0	1	0	0	0	6751	1667	58	5	1072	5	GPR61	1	110086714	Missense_Mutation	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	32333923	110086714	139163907	7	72847											
PEX11B	8799	broad.mit.edu	37	chr1	145522769	145522769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccccacttctgctagaCgtggtcagaaatgcctgtga	9	10	9	13	1	2	3	1	1	1	2	3	3	3	3	3	1	2	1	3	1	2	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:145522769C>T	ENST00000369306.3	+	4	779	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PEX11B_ENST00000537888.1_Silent_p.D196D	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	210					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCTGCTAGACGTGGTCAGAA	0.582													45	93					0	0	0	0	T	145522769	C	T	145522769	2	4	380	1	0	0	0	0	0	0	0	1	11810	535	19	1		1	PEX11B	1	145522769	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	35436055	145522769	103727852	8	72848											
MNDA	4332	broad.mit.edu	37	chr1	158813850	158813850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagcacatctgcagctGtggatcatcccccactaccc	9	7	8	17	0	2	0	1	0	1	0	3	2	3	1	4	1	5	3	4	1	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:158813850G>A	ENST00000368141.4	+	4	769	c.508G>A	c.(508-510)Gtg>Atg	p.V170M		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	170					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATCTGCAGCTGTGGATCATCC	0.478													66	152					0	0	0	0	A	158813850	G	A	158813850	3	1	380	1	0	0	0	0	1	0	0	0	9746	1377	48	4	518	4	MNDA	1	158813850	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	13291081	158813850	90436771	9	72849											
XPR1	9213	broad.mit.edu	37	chr1	180772700	180772700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atattaaagaccttaaactgGccttcagtgagttctacctc	12	13	6	10	0	2	2	1	1	1	1	3	2	2	2	3	1	2	1	3	1	6	6			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:180772700G>A	ENST00000367590.4	+	4	598	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	XPR1_ENST00000367589.3_Missense_Mutation_p.A134T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	134	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTTAAACTGGCCTTCAGTGA	0.423													28	83					0	0	0	0	A	180772700	G	A	180772700	3	1	380	1	0	0	0	0	1	0	0	0	17547	1203	42	4	414	4	XPR1	1	180772700	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	21958850	180772700	68477921	10	72850											
LPGAT1	9926	broad.mit.edu	37	chr1	211966515	211966515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgaaactgctttaatatCttctccccattccatcactg	9	17	3	12	0	3	1	1	1	2	0	5	1	4	1	3	0	2	1	3	0	3	7			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:211966515C>T	ENST00000366997.4	-	3	482	c.256G>A	c.(256-258)Gat>Aat	p.D86N	LPGAT1_ENST00000366996.1_Missense_Mutation_p.D86N	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	86					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GCTTTAATATCTTCTCCCCAT	0.348													18	163					0	0	0	0	T	211966515	C	T	211966515	3	4	380	1	0	0	0	0	1	0	0	0	8978	913	32	2	880	2	LPGAT1	1	211966515	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	31193815	211966515	37284106	11	72851											
OBSCN	84033	broad.mit.edu	37	chr1	228505307	228505307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagggggccacaggccaGtggcggctgtgccacgagct	8	4	18	11	2	0	0	0	0	0	0	0	2	0	1	3	6	2	2	3	6	1	0			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:228505307G>T	ENST00000570156.2	+	63	16649	c.16575G>T	c.(16573-16575)caG>caT	p.Q5525H	OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1687H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q2202H|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4568H|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q4568H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4568					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACAGGCCAGTGGCGGCTGT	0.677													21	34					2.27731e-05	2.38161e-05	1	0	T	228505307	G	T	228505307	3	4	380	1	0	0	0	0	1	0	0	0	10883	1020	36	4	13906	4	OBSCN	1	228505307	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	16538792	228505307	20745314	12	72852											
FMN2	56776	broad.mit.edu	37	chr1	240601385	240601385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggagaccacggcatatttCttcatgaaaccaaaacttgg	13	11	8	9	1	2	2	1	1	1	1	2	3	2	2	2	3	2	1	2	3	4	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:240601385C>G	ENST00000319653.9	+	16	5165	c.4935C>G	c.(4933-4935)ttC>ttG	p.F1645L	FMN2_ENST00000545751.1_Missense_Mutation_p.F241L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1645	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGCATATTTCTTCATGAAAC	0.383													37	90					0	0	0	0	G	240601385	C	G	240601385	3	3	380	1	0	0	0	0	1	0	0	0	5995	912	32	2	4997	2	FMN2	1	240601385	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	12096078	240601385	8649236	13	72853											
OR13G1	441933	broad.mit.edu	37	chr1	247835454	247835454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcaaacaccttcctaattCctgcctgcatctccctattc	9	13	3	16	0	1	0	0	0	1	0	5	0	3	0	5	0	4	2	5	0	3	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:247835454C>T	ENST00000359688.2	-	1	911	c.890G>A	c.(889-891)gGa>gAa	p.G297E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CTTCCTAATTCCTGCCTGCAT	0.423													26	55					0	0	0	0	T	247835454	C	T	247835454	3	4	380	1	0	0	0	0	1	0	0	0	11013	855	30	2	37	2	OR13G1	1	247835454	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	7234069	247835454	1415167	14	72854											
OR2M5	127059	broad.mit.edu	37	chr1	248308937	248308937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcattgatgctgtagcgaCattttccttctcctactgtg	8	16	7	10	1	2	1	1	1	1	0	4	2	3	1	2	0	3	2	2	0	3	6			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:248308937C>T	ENST00000366476.1	+	1	488	c.488C>T	c.(487-489)aCa>aTa	p.T163I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGTAGCGACATTTTCCTTC	0.443													84	223					0	0	0	0	T	248308937	C	T	248308937	3	4	380	1	0	0	0	0	1	0	0	0	11084	478	17	4	490	4	OR2M5	1	248308937	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	473483	248308937	941684	15	72855											
NRXN1	9378	broad.mit.edu	37	chr2	50280430	50280430	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggctaatgggttcttttgtCgggggctttcctcttctggc	2	17	13	9	1	3	0	0	0	3	0	5	0	4	0	1	5	0	3	1	5	1	6			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:50280430C>G	ENST00000404971.1	-	22	5566	c.4227G>C	c.(4225-4227)ccG>ccC	p.P1409P	NRXN1_ENST00000401669.2_Silent_p.P1369P|NRXN1_ENST00000401710.1_Silent_p.P357P|NRXN1_ENST00000405472.3_Silent_p.P1361P|NRXN1_ENST00000342183.5_Silent_p.P304P|NRXN1_ENST00000406859.3_Silent_p.P1339P|NRXN1_ENST00000406316.2_Silent_p.P1339P|NRXN1_ENST00000402717.3_Silent_p.P1361P	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1339	Poly-Ala.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTCTTTTGTCGGGGGCTTTC	0.453													32	83					0	0	0	0	G	50280430	C	G	50280430	2	3	380	1	0	0	0	0	0	0	0	1	10736	871	31	3		3	NRXN1	2	50280430	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		50280430	192918943	16	72856											
NRXN1	9378	broad.mit.edu	37	chr2	51255079	51255079	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgctgtgccaggcgccGtcgttaaccggcgtgtcggc	4	7	15	15	8	0	0	0	0	0	0	2	0	0	0	3	3	2	3	3	3	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:51255079G>C	ENST00000404971.1	-	2	1672	c.333C>G	c.(331-333)gaC>gaG	p.D111E	NRXN1_ENST00000401669.2_Missense_Mutation_p.D111E|NRXN1_ENST00000405472.3_Missense_Mutation_p.D111E|NRXN1_ENST00000406859.3_Missense_Mutation_p.D111E|NRXN1_ENST00000406316.2_Missense_Mutation_p.D111E|NRXN1_ENST00000402717.3_Missense_Mutation_p.D111E|NRXN1_ENST00000405581.1_Missense_Mutation_p.D111E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	111	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.D111D(3)		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)			GCCAGGCGCCGTCGTTAACCG	0.662													15	33					0	0	0	0	C	51255079	G	C	51255079	3	2	380	1	0	0	0	0	1	0	0	0	10736	1136	40	3	4665	3	NRXN1	2	51255079	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	974649	51255079	191944294	17	72857											
TGOLN2	10618	broad.mit.edu	37	chr2	85554304	85554304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttggggtctggccgtccGcacccgacttattagggaca	6	11	12	12	3	1	0	0	0	1	0	2	2	2	1	3	4	0	1	3	4	2	4			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:85554304G>A	ENST00000377386.3	-	2	1013	c.551C>T	c.(550-552)gCg>gTg	p.A184V	TGOLN2_ENST00000444342.2_Missense_Mutation_p.A184V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A184V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A86V|TGOLN2_ENST00000409232.3_Missense_Mutation_p.A184V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A184V			O43493	TGON2_HUMAN	trans-golgi network protein 2	184	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTGGCCGTCCGCACCCGACTT	0.587													7	658					0	0	0	0	A	85554304	G	A	85554304	3	1	380	1	0	0	0	0	1	0	0	0	15930	1087	38	1	774	1	TGOLN2	2	85554304	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	34299225	85554304	157645069	18	72858											
RGPD1	400966	broad.mit.edu	37	chr2	87141032	87141032	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgcagggctccgccccGtcgcctggaaaggtgagtgg	5	7	17	12	4	0	1	0	1	0	0	3	2	1	2	4	5	1	2	4	5	1	0			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:87141032G>T	ENST00000398193.3	+	1	98	c.60G>T	c.(58-60)ccG>ccT	p.P20P	RGPD1_ENST00000409776.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	0					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						GCTCCGCCCCGTCGCCTGGAA	0.736													4	7					0.014758	0.0149766	1	0	T	87141032	G	T	87141032	2	4	380	1	0	0	0	0	0	0	0	1	13367	1132	40	3		3	RGPD1	2	87141032	Silent	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	1586728	87141032	156058341	19	72859											
TTN	7273	broad.mit.edu	37	chr2	179587386	179587386	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgtaaaatatcatcacCttgaattctgaacacagtct	15	14	4	8	0	4	2	2	2	2	0	4	2	4	2	1	0	1	1	1	0	6	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:179587386C>T	ENST00000589042.1	-	76	22464	c.22240_splice	c.e76+1	p.E7414_splice	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site_p.E6170_splice|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site_p.E7097_splice|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7097	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATCATCACCTTGAATTCTG	0.303													9	17					0	0	0	0	T	179587386	C	T	179587386	5	4	380	1	0	0	0	0	0	0	1	0	16831	695	24	4	82437	4	TTN	2	179587386	Splice_Site	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	92446354	179587386	63611987	20	72860											
SLC35A5	55032	broad.mit.edu	37	chr3	112301521	112301521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtttccttttaggatGgagaagaactagaaagactt	13	14	9	5	0	1	4	1	0	0	4	2	6	2	5	1	2	1	1	1	2	5	6			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr3:112301521G>A	ENST00000492406.1	+	7	1496	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	405						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTTTAGGATGGAGAAGAACT	0.363													16	38					0	0	0	0	A	112301521	G	A	112301521	3	1	380	1	0	0	0	0	1	0	0	0	14662	1349	47	4	1235	4	SLC35A5	3	112301521	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		112301521	85720909	21	72861											
SPATA16	83893	broad.mit.edu	37	chr3	172674530	172674530	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatcttttactttttctaTtttatcagctcttatttttg	7	24	3	7	0	4	0	1	0	3	0	4	0	4	0	0	0	3	2	0	0	4	10			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr3:172674530T>A	ENST00000351008.3	-	6	1201	c.1018A>T	c.(1018-1020)Ata>Tta	p.I340L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	340					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACTTTTTCTATTTTATCAGCT	0.358													14	38					0	0	0	0	A	172674530	T	A	172674530	3	1	380	1	0	0	0	0	1	0	0	0	15091	1493	52	5	715	5	SPATA16	3	172674530	Missense_Mutation	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	60373009	172674530	25347900	22	72862											
SLC4A4	8671	broad.mit.edu	37	chr4	72332273	72332273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcctagtttttgagaGgcttctatttaatttcagca	9	17	7	8	0	2	1	1	1	1	1	3	2	3	1	2	1	1	3	2	1	3	8			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:72332273G>T	ENST00000340595.3	+	10	1674	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M	SLC4A4_ENST00000425175.1_Missense_Mutation_p.R537M|SLC4A4_ENST00000512686.1_Missense_Mutation_p.R493M|SLC4A4_ENST00000264485.5_Missense_Mutation_p.R537M|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R537M|SLC4A4_ENST00000514331.1_3'UTR	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	537						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GTTTTTGAGAGGCTTCTATTT	0.393													23	51					2.70639e-06	2.87423e-06	1	0	T	72332273	G	T	72332273	3	4	380	1	0	0	0	0	1	0	0	0	14744	1000	35	4	1777	4	SLC4A4	4	72332273	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		72332273	118822003	23	72863											
CXCL1	2919	broad.mit.edu	37	chr4	74735639	74735639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagccacactcaagaatGggcggaaagcttgcctcaat	13	6	11	11	1	2	2	2	0	0	2	2	3	2	3	2	2	3	2	2	2	4	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:74735639G>A	ENST00000395761.3	+	3	308	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	81					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			ACTCAAGAATGGGCGGAAAGC	0.567													30	63					0	0	0	0	A	74735639	G	A	74735639	3	1	380	1	0	0	0	0	1	0	0	0	4109	1348	47	4	251	4	CXCL1	4	74735639	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	2403366	74735639	116418637	24	72864											
BMP3	651	broad.mit.edu	37	chr4	81967536	81967536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgggaggagagaaagcctTacaagacccttcaggctcag	12	7	13	9	0	2	2	2	0	0	2	2	5	2	4	2	3	2	1	2	3	3	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:81967536T>C	ENST00000282701.2	+	2	1281	c.961T>C	c.(961-963)Tac>Cac	p.Y321H		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	321					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GAGAAAGCCTTACAAGACCCT	0.502													6	41					0	0	0	0	C	81967536	T	C	81967536	3	2	380	1	0	0	0	0	1	0	0	0	1466	1754	61	5	967	5	BMP3	4	81967536	Missense_Mutation	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	7231897	81967536	109186740	25	72865											
DMP1	1758	broad.mit.edu	37	chr4	88578209	88578209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtatcaaaataatgaatCtgaggattctgaagaatgga	17	10	10	4	0	3	4	1	3	2	1	3	6	3	6	0	3	0	1	0	3	7	3	rs138537025	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:88578209C>T	ENST00000339673.6	+	3	179	c.80C>T	c.(79-81)tCt>tTt	p.S27F	DMP1_ENST00000282479.7_Missense_Mutation_p.S27F|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	27					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AATAATGAATCTGAGGATTCT	0.254													9	36					0	0	0	0	T	88578209	C	T	88578209	3	4	380	1	0	0	0	0	1	0	0	0	4620	913	32	2	86	2	DMP1	4	88578209	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	6610673	88578209	102576067	26	72866											
ADH1C	126	broad.mit.edu	37	chr4	100266156	100266156	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgggagaaggtgctgaCgccgacgaagtggtggatgg	9	7	19	6	3	0	2	0	1	0	1	0	6	0	3	1	5	2	2	1	5	3	1	rs78241133		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:100266156C>T	ENST00000515683.1	-	0	781				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAGGTGCTGACGCCGACGAAG	0.577													30	92					0	0	0	0	T	100266156	C	T	100266156	1	4	380	0	1	0	0	0	0	0	0	0	309	536	19	1		1	ADH1C	4	100266156	RNA	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	11687947	100266156	90888120	27	72867											
VCAN	1462	broad.mit.edu	37	chr5	82875883	82875883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaatcaactccctgattaGataccactgcaaagatggtt	14	11	7	9	0	1	4	1	2	0	2	2	4	2	4	2	1	3	2	2	1	5	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr5:82875883G>A	ENST00000265077.3	+	14	10530	c.9965G>A	c.(9964-9966)aGa>aAa	p.R3322K	VCAN_ENST00000502527.2_Missense_Mutation_p.R581K|VCAN_ENST00000512590.2_Missense_Mutation_p.R1520K|VCAN_ENST00000342785.4_Missense_Mutation_p.R1568K|VCAN_ENST00000343200.5_Missense_Mutation_p.R2335K|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3322	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCCCTGATTAGATACCACTGC	0.438													44	48					0	0	0	0	A	82875883	G	A	82875883	3	1	380	1	0	0	0	0	1	0	0	0	17234	942	33	2	10015	2	VCAN	5	82875883	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		82875883	98039377	28	72868											
MCTP1	79772	broad.mit.edu	37	chr5	94043231	94043231	+	Silent	SNP	T	T	A																															ttgtttttctttcttttataTgggctatgagaaggatctgg																										TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr5:94043231T>A	ENST00000515393.1	-	23	2969	c.2970A>T	c.(2968-2970)ccA>ccT	p.P990P	MCTP1_ENST00000312216.8_Silent_p.P769P|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron|MCTP1_ENST00000505078.1_Silent_p.P506P|MCTP1_ENST00000429576.2_Silent_p.P683P	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	990					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCTTTTATATGGGCTATGAG	0.458													31	42					0	0	0	0	A	94043231	T	A	94043231	2	1	380	1	0	0	0	0	0	0	0	1	9469	1451	51	5		5	MCTP1	5	94043231	Silent	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	11167348	94043231	86872029	29	72869	988	2									
MCTP1	79772	broad.mit.edu	37	chr5	94043232	94043232	+	Missense_Mutation	SNP	G	G	T																															tgtttttctttcttttatatGggctatgagaaggatctggt																										TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr5:94043232G>T	ENST00000515393.1	-	23	2968	c.2969C>A	c.(2968-2970)cCa>cAa	p.P990Q	MCTP1_ENST00000312216.8_Missense_Mutation_p.P769Q|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron|MCTP1_ENST00000505078.1_Missense_Mutation_p.P506Q|MCTP1_ENST00000429576.2_Missense_Mutation_p.P683Q	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	990					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTTTATATGGGCTATGAGA	0.453													31	42					6.97489e-18	7.89719e-18	1	0	T	94043232	G	T	94043232	3	4	380	1	0	0	0	0	1	0	0	0	9469	1348	47	4	34	4	MCTP1	5	94043232	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	1	94043232	86872028	30	72870	988	2									
KIF13A	63971	broad.mit.edu	37	chr6	17764436	17764436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggggtggtggagcccatCggagacagtcttgccgcctg	5	8	17	11	2	1	1	0	0	1	1	2	3	1	2	3	5	2	1	3	5	0	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:17764436C>T	ENST00000378814.5	-	37	5178	c.5179G>A	c.(5179-5181)Gat>Aat	p.D1727N	KIF13A_ENST00000259711.6_Missense_Mutation_p.D1775N|KIF13A_ENST00000378816.5_Missense_Mutation_p.D1740N|KIF13A_ENST00000378843.2_Missense_Mutation_p.D1727N|KIF13A_ENST00000378826.2_Missense_Mutation_p.D1740N	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1775					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGAGCCCATCGGAGACAGTC	0.483													9	25					0	0	0	0	T	17764436	C	T	17764436	3	4	380	1	0	0	0	0	1	0	0	0	8325	884	31	1	123	1	KIF13A	6	17764436	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		17764436	153350631	31	72871											
E2F3	1871	broad.mit.edu	37	chr6	20490660	20490660	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagacttcatgtgtagttGattatgcttcgtgtgaactc	9	15	11	6	1	1	3	1	2	0	1	3	4	1	4	0	1	2	3	0	1	4	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:20490660G>C	ENST00000346618.3	+	7	1463	c.1397G>C	c.(1396-1398)tGa>tCa	p.*466S	E2F3_ENST00000535432.1_Nonstop_Mutation_p.*335S	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	0					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ATGTGTAGTTGATTATGCTTC	0.458													48	55					0	0	0	0	C	20490660	G	C	20490660	4	2	380	1	0	0	0	0	0	0	0	0	4904	1285	45	2	1423	2	E2F3	6	20490660	Nonstop_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	2726224	20490660	150624407	32	72872											
KCNQ5	56479	broad.mit.edu	37	chr6	73834251	73834251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaggtttgtgatttctctCttgctacatgtttgtttata	7	20	8	6	0	2	1	0	1	2	0	3	1	2	1	0	1	3	5	0	1	3	8			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:73834251C>T	ENST00000370392.1	+	9	1347	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000370398.1_Intron|KCNQ5_ENST00000355635.3_Intron			Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	0					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGATTTCTCTCTTGCTACATG	0.363													16	60					0	0	0	0	T	73834251	C	T	73834251	2	4	380	1	0	0	0	0	0	0	0	1	8139	928	32	2		2	KCNQ5	6	73834251	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	53343591	73834251	97280816	33	72873											
ENPP1	5167	broad.mit.edu	37	chr6	132206202	132206202	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccttagagaatctgaggCagtaagaacatatttcatta	15	13	7	6	0	2	3	1	1	1	2	3	4	3	3	1	1	1	2	1	1	6	6			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:132206202C>T	ENST00000360971.2	+	23	2463	c.2444_splice	c.e23+1	p.Q815_splice		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	815	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GAATCTGAGGCAGTAAGAACA	0.378													10	18					0	0	0	0	T	132206202	C	T	132206202	5	4	380	1	0	0	0	0	0	0	1	0	5167	724	25	4	2533	4	ENPP1	6	132206202	Splice_Site	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	58371951	132206202	38908865	34	72874											
KIAA1244	57221	broad.mit.edu	37	chr6	138657566	138657566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaccgacatcagagttcgCcaggctgtgagggagtggct	8	8	16	9	2	1	3	1	2	0	1	2	5	1	4	2	3	0	3	2	3	0	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:138657566C>T	ENST00000251691.4	+	34	6643	c.6477C>T	c.(6475-6477)cgC>cgT	p.R2159R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2159					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCAGAGTTCGCCAGGCTGTGA	0.572													54	68					0	0	0	0	T	138657566	C	T	138657566	2	4	380	1	0	0	0	0	0	0	0	1	8268	726	26	4		4	KIAA1244	6	138657566	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	6451364	138657566	32457501	35	72875											
DNAH11	8701	broad.mit.edu	37	chr7	21781651	21781651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcaagcatttgctccatCaattctcaggagtggcccca	11	9	8	13	0	2	0	2	0	1	0	4	1	3	1	3	2	3	3	3	2	2	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:21781651C>T	ENST00000328843.6	+	50	8073	c.8042C>T	c.(8041-8043)tCa>tTa	p.S2681L	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2674L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2681	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGCTCCATCAATTCTCAGG	0.408									Kartagener syndrome				24	44					0	0	0	0	T	21781651	C	T	21781651	3	4	380	1	0	0	0	0	1	0	0	0	4636	838	29	2	8237	2	DNAH11	7	21781651	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		21781651	137357012	36	72876											
C7orf63	79846	broad.mit.edu	37	chr7	89937127	89937127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctggctaataaatcatggGaagatttcttggctagaaca	14	11	10	6	0	2	2	1	0	1	2	2	3	2	3	0	3	2	3	0	3	6	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:89937127G>A	ENST00000389297.4	+	21	2760	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	C7orf63_ENST00000497910.1_Missense_Mutation_p.E819K|C7orf63_ENST00000316089.8_Missense_Mutation_p.E791K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	837							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TAAATCATGGGAAGATTTCTT	0.328													15	35					0	0	0	0	A	89937127	G	A	89937127	3	1	380	1	0	0	0	0	1	0	0	0	2432	1175	41	2	2591	2	C7orf63	7	89937127	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	68155476	89937127	69201536	37	72877											
DLX5	1749	broad.mit.edu	37	chr7	96651526	96651526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaatcccagcgaggcggCcagctcggcgcgttccggca	6	6	14	15	6	1	0	1	0	0	0	4	1	3	0	3	4	2	3	3	4	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:96651526C>T	ENST00000222598.4	-	2	984	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	DLX5_ENST00000486603.2_Missense_Mutation_p.A171T|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	171					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGCGAGGCGGCCAGCTCGGCG	0.567													26	98					0	0	0	0	T	96651526	C	T	96651526	3	4	380	1	0	0	0	0	1	0	0	0	4611	739	26	4	366	4	DLX5	7	96651526	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	6714399	96651526	62487137	38	72878											
PDIA4	9601	broad.mit.edu	37	chr7	148703001	148703001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaccagctctgtaatCaaagctgaagtccacactgt	11	10	6	14	0	3	1	2	1	1	0	5	1	5	1	3	0	2	3	3	0	3	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:148703001C>A	ENST00000286091.4	-	8	1508	c.1276G>T	c.(1276-1278)Gat>Tat	p.D426Y		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	426					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GCTCTGTAATCAAAGCTGAAG	0.627											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	20					3.32936e-07	3.56345e-07	1	0	A	148703001	C	A	148703001	3	1	380	1	0	0	0	0	1	0	0	0	11741	826	29	2	673	2	PDIA4	7	148703001	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	52051475	148703001	10435662	39	72879											
MNX1	3110	broad.mit.edu	37	chr7	156798412	156798412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtctccgggcgctggCggccccagcagctcctcggc	2	7	13	19	4	1	0	0	0	1	0	4	0	2	0	5	4	2	3	5	4	0	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:156798412C>T	ENST00000252971.6	-	3	1308	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	MNX1_ENST00000469500.1_Intron|MNX1_ENST00000543409.1_Silent_p.P124P	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	336					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCGCTGGCGGCCCCAGCA	0.731													3	22					0	0	0	0	T	156798412	C	T	156798412	2	4	380	1	0	0	0	0	0	0	0	1	9749	755	27	1		1	MNX1	7	156798412	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	8095411	156798412	2340251	40	72880											
PREX2	80243	broad.mit.edu	37	chr8	68864658	68864658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagccgcggagacagccGcgccgagagcgccaaggacc	10	0	16	15	6	0	2	0	0	0	2	0	6	0	4	5	3	3	0	5	3	1	0			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr8:68864658G>A	ENST00000288368.4	+	1	306	c.29G>A	c.(28-30)cGc>cAc	p.R10H	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	10					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAGACAGCCGCGCCGAGAGC	0.736													10	7					0	0	0	0	A	68864658	G	A	68864658	3	1	380	1	0	0	0	0	1	0	0	0	12557	1087	38	1	31	1	PREX2	8	68864658	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		68864658	77499364	41	72881											
KCNB2	9312	broad.mit.edu	37	chr8	73480018	73480018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaagacttcaaggtcgAcactttcccttcctccagag	11	9	8	13	1	1	2	1	0	0	2	5	4	4	3	3	2	0	0	3	2	2	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr8:73480018A>G	ENST00000523207.1	+	2	637	c.49A>G	c.(49-51)Aca>Gca	p.T17A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	17					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTCAAGGTCGACACTTTCCCT	0.512													97	95					0	0	0	0	G	73480018	A	G	73480018	3	3	380	1	0	0	0	0	1	0	0	0	8066	275	10	5	51	5	KCNB2	8	73480018	Missense_Mutation	SNP	A	TCGA-D6-A6EQ-01A-11D-A31L-08	4615360	73480018	72884004	42	72882											
CNGB3	54714	broad.mit.edu	37	chr8	87591012	87591012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacagtttgggtgtctcttCtttcggtgggaagaggaggg	8	12	16	5	1	2	1	0	0	2	1	4	3	2	3	0	5	1	1	0	5	2	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr8:87591012C>G	ENST00000320005.5	-	17	2055	c.2008G>C	c.(2008-2010)Gaa>Caa	p.E670Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	670					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGTGTCTCTTCTTTCGGTGGG	0.468													69	77					0	0	0	0	G	87591012	C	G	87591012	3	3	380	1	0	0	0	0	1	0	0	0	3631	922	32	2	429	2	CNGB3	8	87591012	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	14110994	87591012	58773010	43	72883											
CSMD3	114788	broad.mit.edu	37	chr8	113662509	113662509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagagccaatggagaaaTcatgaccatagcgacggcca	15	5	11	10	2	1	3	1	1	0	2	1	5	1	3	3	2	2	1	3	2	4	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr8:113662509T>C	ENST00000297405.5	-	19	3318	c.3074A>G	c.(3073-3075)gAt>gGt	p.D1025G	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1025G|CSMD3_ENST00000455883.2_Missense_Mutation_p.D921G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D985G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1025	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATGGAGAAATCATGACCATA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			86	85					0	0	0	0	C	113662509	T	C	113662509	3	2	380	1	0	0	0	0	1	0	0	0	3978	1435	50	5	8261	5	CSMD3	8	113662509	Missense_Mutation	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	26071497	113662509	32701513	44	72884											
UBAP2	55833	broad.mit.edu	37	chr9	33956091	33956091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttacctttgcccaggtaaGatgtgattctctgctggagc	8	14	10	9	0	1	2	0	1	1	1	2	3	1	3	2	2	4	2	2	2	2	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:33956091G>C	ENST00000379238.1	-	11	969	c.852C>G	c.(850-852)atC>atG	p.I284M	UBAP2_ENST00000360802.1_Missense_Mutation_p.I284M|UBAP2_ENST00000418786.2_Missense_Mutation_p.I231M|UBAP2_ENST00000539807.1_Missense_Mutation_p.I39M|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.I284M			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	284										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCCCAGGTAAGATGTGATTCT	0.338													18	187					0	0	0	0	C	33956091	G	C	33956091	3	2	380	1	0	0	0	0	1	0	0	0	16933	932	33	2	2583	2	UBAP2	9	33956091	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		33956091	107257340	45	72885											
ANXA1	301	broad.mit.edu	37	chr9	75775728	75775728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaaatttagggccttggaActgatgaagatactctaatt	13	14	8	6	0	2	3	1	2	1	1	2	4	2	4	1	2	2	0	1	2	6	7			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:75775728A>G	ENST00000376911.1	+	5	1276	c.394A>G	c.(394-396)Act>Gct	p.T132A	ANXA1_ENST00000257497.6_Missense_Mutation_p.T132A			P04083	ANXA1_HUMAN	annexin A1	132					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGGCCTTGGAACTGATGAAGA	0.348													23	110					0	0	0	0	G	75775728	A	G	75775728	3	3	380	1	0	0	0	0	1	0	0	0	713	43	2	5	412	5	ANXA1	9	75775728	Missense_Mutation	SNP	A	TCGA-D6-A6EQ-01A-11D-A31L-08	41819637	75775728	65437703	46	72886											
OR1L4	254973	broad.mit.edu	37	chr9	125486859	125486859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgacacatcctccagccaGatggtggtgatgactgagac	10	9	11	11	0	1	5	0	4	1	2	3	6	3	5	3	2	1	0	3	2	0	0			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:125486859G>A	ENST00000259466.1	+	1	591	c.591G>A	c.(589-591)caG>caA	p.Q197Q		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCCAGCCAGATGGTGGTGA	0.502													48	402					0	0	0	0	A	125486859	G	A	125486859	2	1	380	1	0	0	0	0	0	0	0	1	11036	933	33	2		2	OR1L4	9	125486859	Silent	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	49711131	125486859	15726572	47	72887											
CIZ1	25792	broad.mit.edu	37	chr9	130941438	130941438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactaagtgctctggagAggtctgtgtttgcgcctgct	6	12	13	10	1	2	1	0	0	2	1	2	2	2	1	1	2	4	4	1	2	1	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:130941438A>T	ENST00000538431.1	-	8	1295	c.1048T>A	c.(1048-1050)Tct>Act	p.S350T	CIZ1_ENST00000372954.1_Missense_Mutation_p.S326T|CIZ1_ENST00000372938.5_Missense_Mutation_p.S350T|CIZ1_ENST00000372948.3_Missense_Mutation_p.S350T|CIZ1_ENST00000325721.8_Missense_Mutation_p.S321T|CIZ1_ENST00000277465.4_Missense_Mutation_p.S350T|CIZ1_ENST00000393608.1_Missense_Mutation_p.S350T|CIZ1_ENST00000541172.1_Missense_Mutation_p.S249T|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000357558.5_Missense_Mutation_p.S350T	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	350	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGCTCTGGAGAGGTCTGTGTT	0.612													53	81					0	0	0	0	T	130941438	A	T	130941438	3	4	380	1	0	0	0	0	1	0	0	0	3471	304	11	5	1688	5	CIZ1	9	130941438	Missense_Mutation	SNP	A	TCGA-D6-A6EQ-01A-11D-A31L-08	5454579	130941438	10271993	48	72888											
DNM1	1759	broad.mit.edu	37	chr9	130982551	130982551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgaacgaaagttcttcctCtcccatccatcttatcgcca	9	12	5	15	2	3	1	0	1	3	0	7	2	5	1	4	0	1	2	4	0	3	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:130982551C>T	ENST00000341179.7	+	6	872	c.780C>T	c.(778-780)ctC>ctT	p.L260L	DNM1_ENST00000486160.1_Silent_p.L260L|DNM1_ENST00000372923.3_Silent_p.L260L|DNM1_ENST00000475805.1_Silent_p.L260L|DNM1_ENST00000393594.3_Silent_p.L260L	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	260					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGTTCTTCCTCTCCCATCCAT	0.567													88	101					0	0	0	0	T	130982551	C	T	130982551	2	4	380	1	0	0	0	0	0	0	0	1	4706	900	32	2		2	DNM1	9	130982551	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	41113	130982551	10230880	49	72889											
DBH	1621	broad.mit.edu	37	chr9	136508639	136508639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacttcagcgggccctgCgactccaagatgaaacccga	10	5	9	17	3	1	2	1	1	0	1	2	4	2	2	5	1	3	0	5	1	2	1	rs78200745		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:136508639C>T	ENST00000393056.2	+	4	861	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	283					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCGGGCCCTGCGACTCCAAGA	0.662													28	114					0	0	0	0	T	136508639	C	T	136508639	2	4	380	1	0	0	0	0	0	0	0	1	4283	776	27	1		1	DBH	9	136508639	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	5526088	136508639	4704792	50	72890											
ARHGAP22	58504	broad.mit.edu	37	chr10	49667777	49667777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaatcctgcaggtccctCaccaggttggcctggcctgg	7	8	13	13	0	1	0	1	0	0	0	3	1	3	1	5	6	1	2	5	6	2	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:49667777C>T	ENST00000249601.4	-	5	905	c.609G>A	c.(607-609)gtG>gtA	p.V203V	ARHGAP22_ENST00000435790.2_Silent_p.V209V|ARHGAP22_ENST00000374172.1_Silent_p.V94V|ARHGAP22_ENST00000374170.1_Silent_p.V113V|ARHGAP22_ENST00000417912.2_Silent_p.V219V|ARHGAP22_ENST00000417247.2_Silent_p.V113V	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	203	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAGGTCCCTCACCAGGTTGG	0.627													85	170					0	0	0	0	T	49667777	C	T	49667777	2	4	380	1	0	0	0	0	0	0	0	1	874	813	29	2		2	ARHGAP22	10	49667777	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		49667777	85866970	51	72891											
SLC16A9	220963	broad.mit.edu	37	chr10	61414210	61414210	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggacaatcagaagattGgaggggtctcatcagactgc	14	7	12	8	0	3	3	3	0	1	3	4	5	3	5	0	4	1	0	0	4	3	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:61414210G>A	ENST00000395348.3	-	5	1210	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.Q192*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	192					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TCAGAAGATTGGAGGGGTCTC	0.398													22	92					0	0	0	0	A	61414210	G	A	61414210	4	1	380	1	0	0	0	0	0	1	0	0	14503	1357	47	4	963	4	SLC16A9	10	61414210	Nonsense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	11746433	61414210	74120537	52	72892											
RHOBTB1	9886	broad.mit.edu	37	chr10	62647983	62647983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacccgagaacgttccCttgctgagacactcttttat	9	12	6	14	2	2	2	1	1	1	2	3	4	3	2	2	0	2	2	2	0	2	4			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:62647983C>T	ENST00000337910.5	-	6	1780	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	RHOBTB1_ENST00000357917.4_Silent_p.K481K	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	481					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGAACGTTCCCTTGCTGAGAC	0.473													3	35					0	0	0	0	T	62647983	C	T	62647983	2	4	380	1	0	0	0	0	0	0	0	1	13416	680	24	4		4	RHOBTB1	10	62647983	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	1233773	62647983	72886764	53	72893											
TYSND1	219743	broad.mit.edu	37	chr10	71902510	71902510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgcagcattacgggcGtgccattcacctgcaccaca	8	9	10	14	2	2	0	1	0	1	0	2	0	2	0	3	2	5	3	3	2	1	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:71902510G>A	ENST00000287078.6	-	3	1396	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	466	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CATTACGGGCGTGCCATTCAC	0.612													4	37					0	0	0	0	A	71902510	G	A	71902510	3	1	380	1	0	0	0	0	1	0	0	0	16913	1145	40	1	311	1	TYSND1	10	71902510	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	9254527	71902510	63632237	54	72894											
DLG5	9231	broad.mit.edu	37	chr10	79581668	79581668	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctcctggggggccTggctccttcctgtcttccag	1	12	12	16	0	1	0	0	0	1	0	5	0	5	0	6	4	2	2	6	4	0	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:79581668T>A	ENST00000372391.2	-	15	2579	c.2574A>T	c.(2572-2574)ccA>ccT	p.P858P	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	858					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGGGGGGCCTGGCTCCTTCC	0.592													24	46					0	0	0	0	A	79581668	T	A	79581668	2	1	380	1	0	0	0	0	0	0	0	1	4595	1567	55	5		5	DLG5	10	79581668	Silent	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	7679158	79581668	55953079	55	72895											
AGAP11	119385	broad.mit.edu	37	chr10	88768568	88768568	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaagtggccatccctaGccacatcggcctgcgcaccc	9	5	10	17	2	0	0	0	0	0	0	2	1	1	1	5	3	2	1	5	3	2	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:88768568G>C	ENST00000444431.1	+	0	3168				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GCCATCCCTAGCCACATCGGC	0.463													58	103					0	0	0	0	C	88768568	G	C	88768568	1	2	380	0	1	0	0	0	0	0	0	0	367	971	34	4		4	AGAP11	10	88768568	RNA	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	9186900	88768568	46766179	56	72896											
CYP2C8	1558	broad.mit.edu	37	chr10	96796914	96796914	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagcagatctggtatgAgggtggcagagaaacaatcc	14	7	14	6	0	1	4	0	2	1	2	2	6	2	4	1	3	2	3	1	3	4	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:96796914A>G	ENST00000371270.3	-	9	1538	c.1444T>C	c.(1444-1446)Tca>Cca	p.S482P	CYP2C8_ENST00000535898.1_Missense_Mutation_p.S380P	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	482					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATCTGGTATGAGGGTGGCAGA	0.418													3	47					0	0	0	0	G	96796914	A	G	96796914	3	3	380	1	0	0	0	0	1	0	0	0	4199	304	11	5	32	5	CYP2C8	10	96796914	Missense_Mutation	SNP	A	TCGA-D6-A6EQ-01A-11D-A31L-08	8028346	96796914	38737833	57	72897											
MKI67	4288	broad.mit.edu	37	chr10	129906835	129906835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcctcttccttaggcgttCttggccacttcttcattcca	4	15	8	14	1	4	0	1	0	3	0	6	0	6	0	4	3	0	1	4	3	1	7	rs144881533		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:129906835C>G	ENST00000368654.3	-	13	3644	c.3269G>C	c.(3268-3270)aGa>aCa	p.R1090T	MKI67_ENST00000368653.3_Missense_Mutation_p.R730T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1090	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTAGGCGTTCTTGGCCACTT	0.522													36	161					0	0	0	0	G	129906835	C	G	129906835	3	3	380	1	0	0	0	0	1	0	0	0	9667	913	32	2	6513	2	MKI67	10	129906835	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	33109921	129906835	5627912	58	72898											
MUC6	4588	broad.mit.edu	37	chr11	1016697	1016697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgttgagtggatggaggcaGaagtggccatctgtgtgtgg	7	10	19	5	1	1	2	0	1	1	1	1	4	1	4	1	5	0	2	1	5	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:1016697G>A	ENST00000421673.2	-	31	6154	c.6104C>T	c.(6103-6105)tCt>tTt	p.S2035F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2035	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGAGGCAGAAGTGGCCAT	0.567													72	516					0	0	0	0	A	1016697	G	A	1016697	3	1	380	1	0	0	0	0	1	0	0	0	10050	942	33	2	1227	2	MUC6	11	1016697	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		1016697	133989819	59	72899											
SPON1	10418	broad.mit.edu	37	chr11	14277196	14277196	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtatgttttcttgcagtcaCccaacaaacccaccattccc	10	12	4	15	0	2	0	1	0	1	0	3	0	3	0	4	0	3	3	4	0	3	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:14277196C>T	ENST00000310358.7	+	0	1631							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CTTGCAGTCACCCAACAAACC	0.473													32	115					0	0	0	0	T	14277196	C	T	14277196	1	4	380	0	1	0	0	0	0	0	0	0	15172	507	18	4		4	SPON1	11	14277196	RNA	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	13260499	14277196	120729320	60	72900											
INTS5	80789	broad.mit.edu	37	chr11	62415004	62415004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgttcgcggaagcGccggccaatgcggagatccc	7	5	16	13	5	0	1	0	0	0	1	2	3	1	2	3	5	2	2	3	5	2	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:62415004G>A	ENST00000330574.2	-	2	2600	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	850					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCGCGGAAGCGCCGGCCAATG	0.672													30	88					0	0	0	0	A	62415004	G	A	62415004	3	1	380	1	0	0	0	0	1	0	0	0	7834	1087	38	1	515	1	INTS5	11	62415004	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	48137808	62415004	72591512	61	72901											
OR6T1	219874	broad.mit.edu	37	chr11	123813778	123813778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatacgaatgtagagaaaGatggaactgccatagatgat	17	8	11	5	1	0	4	0	1	0	3	0	8	0	5	1	1	3	1	1	1	6	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:123813778G>A	ENST00000321252.2	-	1	802	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTAGAGAAAGATGGAACTGC	0.517													41	86					0	0	0	0	A	123813778	G	A	123813778	2	1	380	1	0	0	0	0	0	0	0	1	11281	932	33	2		2	OR6T1	11	123813778	Silent	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	61398774	123813778	11192738	62	72902											
NFRKB	4798	broad.mit.edu	37	chr11	129739790	129739790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgaggtcaggagtcaCtttgaccacagtggtacctg	8	11	13	9	0	2	2	2	2	0	0	2	3	2	3	2	4	1	2	2	4	1	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:129739790C>T	ENST00000446488.3	-	23	3233	c.3130G>A	c.(3130-3132)Gtg>Atg	p.V1044M	NFRKB_ENST00000524794.1_Missense_Mutation_p.V1069M|NFRKB_ENST00000524746.1_Missense_Mutation_p.V1044M|NFRKB_ENST00000304521.5_Missense_Mutation_p.V1044M	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1044					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCAGGAGTCACTTTGACCACA	0.537													17	57					0	0	0	0	T	129739790	C	T	129739790	3	4	380	1	0	0	0	0	1	0	0	0	10454	565	20	4	785	4	NFRKB	11	129739790	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	5926012	129739790	5266726	63	72903											
CD27	939	broad.mit.edu	37	chr12	6559495	6559495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgagcccacaccctcagcCcacccacttaccttatgtca	9	8	4	20	0	2	1	2	1	0	0	2	1	2	1	6	0	3	0	6	0	2	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:6559495C>A	ENST00000266557.3	+	3	654	c.425C>A	c.(424-426)cCc>cAc	p.P142H	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	142					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CACCCTCAGCCCACCCACTTA	0.602													34	92					1.07637e-12	1.1797e-12	1	0	A	6559495	C	A	6559495	3	1	380	1	0	0	0	0	1	0	0	0	3019	623	22	4	435	4	CD27	12	6559495	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		6559495	127292400	64	72904											
LRP6	4040	broad.mit.edu	37	chr12	12397432	12397432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtttaatggcttcttcGctgacatcactccagtatat	8	16	7	10	2	2	1	1	1	1	0	5	1	3	1	1	1	0	5	1	1	3	7	rs145354281	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:12397432G>T	ENST00000261349.4	-	2	289	c.213C>A	c.(211-213)agC>agA	p.S71R	LRP6_ENST00000543091.1_Missense_Mutation_p.S71R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	71	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGGCTTCTTCGCTGACATCAC	0.453													4	61					0.150653	0.151761	1	0	T	12397432	G	T	12397432	3	4	380	1	0	0	0	0	1	0	0	0	9026	1078	38	3	4716	3	LRP6	12	12397432	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	5837937	12397432	121454463	65	72905											
ATF7IP	55729	broad.mit.edu	37	chr12	14634098	14634098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttatgcaggctcctgctgttCggcaggtcaatccccaaaat	9	11	9	12	1	1	0	1	0	0	0	4	0	3	0	3	3	2	5	3	3	4	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:14634098C>G	ENST00000544627.1	+	13	3603	c.3283C>G	c.(3283-3285)Cgg>Ggg	p.R1095G	ATF7IP_ENST00000540793.1_Missense_Mutation_p.R1087G|ATF7IP_ENST00000536444.1_Missense_Mutation_p.R1086G|ATF7IP_ENST00000543189.1_Missense_Mutation_p.R1086G|ATF7IP_ENST00000261168.4_Missense_Mutation_p.R1087G			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1087					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCCTGCTGTTCGGCAGGTCAA	0.458													12	67					0	0	0	0	G	14634098	C	G	14634098	3	3	380	1	0	0	0	0	1	0	0	0	1091	875	31	3	3305	3	ATF7IP	12	14634098	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	2236666	14634098	119217797	66	72906											
ADAMTS20	80070	broad.mit.edu	37	chr12	43833789	43833789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtattcaataacagttcttgTtccttgcacattgatttctt	9	19	5	8	0	3	1	1	1	2	0	4	1	4	1	1	0	2	4	1	0	3	10			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:43833789T>C	ENST00000389420.3	-	17	2373	c.2374A>G	c.(2374-2376)Aca>Gca	p.T792A	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T792A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	792	Spacer.			Missing (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACAGTTCTTGTTCCTTGCACA	0.313													6	9					0	0	0	0	C	43833789	T	C	43833789	3	2	380	1	0	0	0	0	1	0	0	0	266	1725	60	5	3449	5	ADAMTS20	12	43833789	Missense_Mutation	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	29199691	43833789	90018106	67	72907											
ARID2	196528	broad.mit.edu	37	chr12	46245684	46245684	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggtttacatgttcatGaacgtaaaattgaagtcatg	15	12	8	6	1	2	2	2	2	0	0	2	2	2	2	0	1	3	3	0	1	6	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:46245684G>T	ENST00000334344.6	+	15	3950	c.3778G>T	c.(3778-3780)Gaa>Taa	p.E1260*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.E1111*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E870*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1260					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACATGTTCATGAACGTAAAAT	0.433			"N, S, F"		hepatocellular carcinoma								22	54					1.55795e-14	1.7495e-14	1	0	T	46245684	G	T	46245684	4	4	380	1	0	0	0	0	0	1	0	0	917	1291	45	2	3836	2	ARID2	12	46245684	Nonsense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	2411895	46245684	87606211	68	72908											
NAV3	89795	broad.mit.edu	37	chr12	78582051	78582051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaatctcaggcatatttGataggatccattggtgttag	13	13	9	6	0	1	1	1	1	1	0	3	2	2	2	1	3	0	2	1	3	5	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:78582051G>A	ENST00000397909.2	+	32	5987	c.5814G>A	c.(5812-5814)ttG>ttA	p.L1938L	NAV3_ENST00000536525.2_Silent_p.L1916L|NAV3_ENST00000228327.6_Silent_p.L1916L|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Silent_p.L1739L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1938						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.L1916F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGCATATTTGATAGGATCCA	0.323										HNSCC(70;0.22)			19	56					0	0	0	0	A	78582051	G	A	78582051	2	1	380	1	0	0	0	0	0	0	0	1	10255	1281	45	2		2	NAV3	12	78582051	Silent	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	32336367	78582051	55269844	69	72909											
PPFIA2	8499	broad.mit.edu	37	chr12	81732999	81732999	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcttttttaccaaacaaAcgtcctattgaagacttgat	12	17	4	8	1	1	3	0	2	1	1	2	3	2	3	2	0	3	0	2	0	5	8			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:81732999A>G	ENST00000550584.2	-	20	2803	c.2508T>C	c.(2506-2508)cgT>cgC	p.R836R	PPFIA2_ENST00000541017.1_Silent_p.R53R|PPFIA2_ENST00000549325.1_Silent_p.R818R|PPFIA2_ENST00000541570.2_Silent_p.R403R|PPFIA2_ENST00000552948.1_Silent_p.R836R|PPFIA2_ENST00000333447.7_Silent_p.R818R|PPFIA2_ENST00000407050.4_Silent_p.R762R|PPFIA2_ENST00000550359.2_Silent_p.R683R|PPFIA2_ENST00000548586.1_Silent_p.R836R|PPFIA2_ENST00000549396.1_Silent_p.R836R|PPFIA2_ENST00000443686.3_Silent_p.R737R|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	762										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TACCAAACAAACGTCCTATTG	0.458													30	99					0	0	0	0	G	81732999	A	G	81732999	2	3	380	1	0	0	0	0	0	0	0	1	12381	30	2	5		5	PPFIA2	12	81732999	Silent	SNP	A	TCGA-D6-A6EQ-01A-11D-A31L-08	3150948	81732999	52118896	70	72910											
SYT16	83851	broad.mit.edu	37	chr14	62551060	62551060	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattatctgtggaaatgatCaaaggcagccatttccgaaa	14	10	9	8	2	2	1	1	1	1	0	3	4	3	2	2	2	1	1	2	2	4	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr14:62551060C>A	ENST00000430451.2	+	5	1778	c.1581C>A	c.(1579-1581)atC>atA	p.I527I		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	527	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAAATGATCAAAGGCAGCC	0.547													18	35					3.52763e-06	3.71758e-06	1	0	A	62551060	C	A	62551060	2	1	380	1	0	0	0	0	0	0	0	1	15563	816	29	2		2	SYT16	14	62551060	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		62551060	44798480	71	72911											
TRIP11	9321	broad.mit.edu	37	chr14	92474060	92474060	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttttcactaatactctgaTtgagttcttgttcctttgcc	6	19	5	11	0	3	2	1	2	2	0	4	2	4	2	3	0	2	2	3	0	2	9			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr14:92474060T>C	ENST00000267622.4	-	10	1824	c.1451A>G	c.(1450-1452)aAt>aGt	p.N484S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	484					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATACTCTGATTGAGTTCTTG	0.328			T	PDGFRB	AML								23	44					0	0	0	0	C	92474060	T	C	92474060	3	2	380	1	0	0	0	0	1	0	0	0	16650	1493	52	5	4536	5	TRIP11	14	92474060	Missense_Mutation	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	29923000	92474060	14875480	72	72912											
CD276	80381	broad.mit.edu	37	chr15	74003500	74003500	+	Frame_Shift_Del	DEL	A	A	-																															gcagcctctgaaacactctgAcagcaaagaaggtaaagaca																										TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr15:74003500delA	ENST00000318443.5	+	9	1873	c.1571delA	c.(1570-1572)gcfs	p.D524fs	CD276_ENST00000537340.2_Frame_Shift_Del_p.D378fs|CD276_ENST00000564751.1_Frame_Shift_Del_p.D306fs|CD276_ENST00000318424.5_Frame_Shift_Del_p.D306fs|CD276_ENST00000561213.1_Frame_Shift_Del_p.D524fs	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	524					cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						AAACACTCTGACAGCAAAGAA	0.542													8	96	---	---	---	---					-	74003500	A	-	74003500	7	5	380	1	0	1	0	1	0	0	0	0	3021	275	10	0	1601	0	CD276	15	74003500	Frame_Shift_Del	DEL	A	TCGA-D6-A6EQ-01A-11D-A31L-08		74003500	28527892	73	72913											
PKD1	5310	broad.mit.edu	37	chr16	2165590	2165590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgggtcctgttgtccgggGacctgctctcaggctcgctg	2	11	15	13	2	1	0	1	0	1	0	5	1	3	1	3	4	1	5	3	4	0	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr16:2165590G>A	ENST00000262304.4	-	10	2094	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	PKD1_ENST00000423118.1_Missense_Mutation_p.S629F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	629					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGTCCGGGGACCTGCTCTC	0.692													5	2					0	0	0	0	A	2165590	G	A	2165590	3	1	380	1	0	0	0	0	1	0	0	0	12035	1174	41	2	11173	2	PKD1	16	2165590	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		2165590	88189163	74	72914											
ABCC12	94160	broad.mit.edu	37	chr16	48174625	48174625	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagagatgtgggtcaatgtCttgaaggacactaggttttc	11	12	12	6	0	2	2	1	1	1	1	3	4	2	3	0	3	0	1	0	3	3	4			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr16:48174625C>T	ENST00000311303.3	-	4	975	c.630G>A	c.(628-630)aaG>aaA	p.K210K	ABCC12_ENST00000416054.1_Silent_p.K210K|ABCC12_ENST00000448542.1_Silent_p.K210K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	210	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGGTCAATGTCTTGAAGGACA	0.517													72	167					0	0	0	0	T	48174625	C	T	48174625	2	4	380	1	0	0	0	0	0	0	0	1	52	912	32	2		2	ABCC12	16	48174625	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	46009035	48174625	42180128	75	72915											
CCDC102A	92922	broad.mit.edu	37	chr16	57559864	57559864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccagccgtagccgcaggGcggtcaacttggaggcctcc	7	6	13	15	3	1	0	1	0	0	0	3	1	3	1	5	4	3	2	5	4	2	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr16:57559864G>C	ENST00000258214.2	-	3	1007	c.761C>G	c.(760-762)gCc>gGc	p.A254G		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	254										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TAGCCGCAGGGCGGTCAACTT	0.721													9	27					0	0	0	0	C	57559864	G	C	57559864	3	2	380	1	0	0	0	0	1	0	0	0	2761	1203	42	4	919	4	CCDC102A	16	57559864	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	9385239	57559864	32794889	76	72916											
HPR	3250	broad.mit.edu	37	chr16	72110962	72110962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcactgggttcagaaGaccatagctgagaactaatg	14	8	10	9	0	1	3	1	1	0	3	2	4	2	3	2	1	3	3	2	1	4	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr16:72110962G>T	ENST00000540303.2	+	5	1061	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N	HPR_ENST00000228226.8_Missense_Mutation_p.K380N|HPR_ENST00000561690.1_3'UTR|HPR_ENST00000356967.5_Missense_Mutation_p.K343N	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	343	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGGTTCAGAAGACCATAGCTG	0.537													9	60					0.000673444	0.000688521	1	0	T	72110962	G	T	72110962	3	4	380	1	0	0	0	0	1	0	0	0	7387	933	33	2	1047	2	HPR	16	72110962	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	14551098	72110962	18243791	77	72917											
TEKT1	83659	broad.mit.edu	37	chr17	6704223	6704223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggatggccttttcaagagCtgtaatatttttctcctggg	9	15	10	7	0	2	1	1	0	1	1	3	2	2	2	2	3	1	2	2	3	4	6			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:6704223C>T	ENST00000338694.2	-	7	1021	c.892G>A	c.(892-894)Gct>Act	p.A298T	TEKT1_ENST00000535086.1_Missense_Mutation_p.A152T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	298					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTTTCAAGAGCTGTAATATTT	0.512													16	109					0	0	0	0	T	6704223	C	T	6704223	3	4	380	1	0	0	0	0	1	0	0	0	15846	797	28	4	372	4	TEKT1	17	6704223	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		6704223	74490987	78	72918											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522		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)			13	19					0	0	0	0	A	7574018	G	A	7574018	3	1	380	1	0	0	0	0	1	0	0	0	16476	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	869795	7574018	73621192	79	72919											
TNFAIP1	7126	broad.mit.edu	37	chr17	26671444	26671444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcaacgtcctactctatGagactccccgcgtccccgac	8	8	6	19	4	2	1	1	1	1	1	5	3	5	1	5	0	2	0	5	0	3	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:26671444G>A	ENST00000226225.2	+	7	1036	c.769G>A	c.(769-771)Gag>Aag	p.E257K	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.E153K|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	257					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCTACTCTATGAGACTCCCCG	0.562													22	49					0	0	0	0	A	26671444	G	A	26671444	3	1	380	1	0	0	0	0	1	0	0	0	16366	1291	45	2	791	2	TNFAIP1	17	26671444	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	19097426	26671444	54523766	80	72920											
ACACA	31	broad.mit.edu	37	chr17	35604999	35604999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggacaagagcagtccacCgtcactcagccgatgtacat	13	7	9	12	2	2	1	2	0	0	1	3	3	3	2	3	1	3	2	3	1	3	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:35604999C>T	ENST00000353139.5	-	18	2726	c.2245G>A	c.(2245-2247)Ggt>Agt	p.G749S	ACACA_ENST00000394406.2_Missense_Mutation_p.G712S|ACACA_ENST00000360679.3_Missense_Mutation_p.G654S|ACACA_ENST00000335166.5_Missense_Mutation_p.G634S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	712					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGCAGTCCACCGTCACTCAGC	0.473													9	59					0	0	0	0	T	35604999	C	T	35604999	3	4	380	1	0	0	0	0	1	0	0	0	106	652	23	1	5062	1	ACACA	17	35604999	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	8933555	35604999	45590211	81	72921											
KRTAP9-8	83901	broad.mit.edu	37	chr17	39394318	39394318	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaccatgacccactgttgTtccccttgctgtcagcctac	7	11	7	16	0	1	1	1	1	0	0	2	2	2	1	5	0	3	3	5	0	1	4			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:39394318T>C	ENST00000254072.6	+	1	22	c.15T>C	c.(13-15)tgT>tgC	p.C5C		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	5						keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCACTGTTGTTCCCCTTGCT	0.572													11	106					0	0	0	0	C	39394318	T	C	39394318	2	2	380	1	0	0	0	0	0	0	0	1	8629	1731	60	5		5	KRTAP9-8	17	39394318	Silent	SNP	T	TCGA-D6-A6EQ-01A-11D-A31L-08	3789319	39394318	41800892	82	72922											
FKBP10	60681	broad.mit.edu	37	chr17	39974425	39974425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacaccgtgcaggtgaGcacattgctgcgcccgcccc	8	5	13	15	3	0	2	0	1	0	1	0	3	0	3	4	2	4	3	4	2	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:39974425G>A	ENST00000321562.4	+	3	580	c.476G>A	c.(475-477)aGc>aAc	p.S159N		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	159					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GTGCAGGTGAGCACATTGCTG	0.622													8	40					0	0	0	0	A	39974425	G	A	39974425	3	1	380	1	0	0	0	0	1	0	0	0	5947	971	34	4	486	4	FKBP10	17	39974425	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	580107	39974425	41220785	83	72923											
FKBP10	60681	broad.mit.edu	37	chr17	39977976	39977976	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggaggatgggctgccCacaggctacctgtttgtgtg	5	10	15	11	1	0	0	0	0	0	0	1	2	1	2	3	4	2	3	3	4	1	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:39977976C>A	ENST00000321562.4	+	9	1574	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	FKBP10_ENST00000544340.1_Silent_p.P263P	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	490					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGGGCTGCCCACAGGCTACC	0.637													29	87					1.13719e-10	1.23647e-10	1	0	A	39977976	C	A	39977976	2	1	380	1	0	0	0	0	0	0	0	1	5947	581	21	4		4	FKBP10	17	39977976	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	3551	39977976	41217234	84	72924											
GFAP	2670	broad.mit.edu	37	chr17	42992568	42992568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagctcagcagccagcGccttgttttgctgttccagg	5	12	12	12	1	2	0	2	0	0	0	3	0	3	0	3	2	5	6	3	2	0	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:42992568G>A	ENST00000253408.5	-	1	352	c.287C>T	c.(286-288)gCg>gTg	p.A96V	GFAP_ENST00000435360.2_Missense_Mutation_p.A96V|GFAP_ENST00000586793.1_Missense_Mutation_p.A96V|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	96	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				AGCAGCCAGCGCCTTGTTTTG	0.612													11	51					0	0	0	0	A	42992568	G	A	42992568	3	1	380	1	0	0	0	0	1	0	0	0	6388	1087	38	1	1176	1	GFAP	17	42992568	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	3014592	42992568	38202642	85	72925											
HOXB5	3215	broad.mit.edu	37	chr17	46670537	46670537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttgcggagtctgcccctCgggcgcggctgtggaggtgg	3	10	18	10	4	1	0	0	0	1	0	2	2	1	2	2	6	2	1	2	6	1	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:46670537C>T	ENST00000239151.5	-	1	786	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	170						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GTCTGCCCCTCGGGCGCGGCT	0.607													23	71					0	0	0	0	T	46670537	C	T	46670537	3	4	380	1	0	0	0	0	1	0	0	0	7354	893	31	1	309	1	HOXB5	17	46670537	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	3677969	46670537	34524673	86	72926											
EVPL	2125	broad.mit.edu	37	chr17	74003394	74003407	+	Frame_Shift_Del	DEL	GATCATCCCGGAGA	GATCATCCCGGAGA	-																															agctgggccagctcttcactGatcatcccggagaggagggc																										TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:74003394_74003407delGATCATCCCGGAGA	ENST00000301607.3	-	22	6132_6145	c.5879_5892delTCTCCGGGATGATC	c.(5878-5892)cfs	p.LSGMI1960fs	EVPL_ENST00000586740.1_Frame_Shift_Del_p.LSGMI1982fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1960	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTCTTCACTGATCATCCCGGAGAGGAGGGCCTG	0.64													30	86	---	---	---	---					-	74003407	GATCATCCCGGAGA	-	74003394	7	5	380	1	0	1	0	1	0	0	0	0	5330	1280	45	0	213	0	EVPL	17	74003394	Frame_Shift_Del	DEL	GATCATCCCGGAGA	TCGA-D6-A6EQ-01A-11D-A31L-08	27332857	74003394	7191816	87	72927											
QRICH2	84074	broad.mit.edu	37	chr17	74288000	74288000	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccaaaccaagaggataGgcaccaggttgtaccaggcc	13	6	11	11	0	0	1	0	0	0	1	0	2	0	2	5	4	3	4	5	4	5	4			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:74288000G>T	ENST00000262765.5	-	4	2489	c.2310C>A	c.(2308-2310)gcC>gcA	p.A770A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	770							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAGAGGATAGGCACCAGGTT	0.517													5	167					4.096e-09	4.41852e-09	1	0	T	74288000	G	T	74288000	2	4	380	1	0	0	0	0	0	0	0	1	12962	987	35	4		4	QRICH2	17	74288000	Silent	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	284606	74288000	6907210	88	72928											
DNAH17	8632	broad.mit.edu	37	chr17	76449525	76449525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtccccttccgagatggCctgctcgatgacatccaggt	6	10	12	13	2	0	2	0	1	0	1	4	4	3	2	5	3	1	1	5	3	0	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:76449525C>T	ENST00000389840.5	-	65	10511	c.10387G>A	c.(10387-10389)Gcc>Acc	p.A3463T	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A3472T					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGAGATGGCCTGCTCGATG	0.597													4	42					0	0	0	0	T	76449525	C	T	76449525	3	4	380	1	0	0	0	0	1	0	0	0	4638	739	26	4	3027	4	DNAH17	17	76449525	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	2161525	76449525	4745685	89	72929											
C19orf26	255057	broad.mit.edu	37	chr19	1231206	1231206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagtcctcctggggggcatCcccctcctcctgctccgtgc	3	9	11	18	1	0	0	0	0	0	0	6	1	6	0	7	3	2	2	7	3	1	0			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:1231206C>T	ENST00000590083.1	-	9	1340	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	C19orf26_ENST00000215376.6_Missense_Mutation_p.D344N|C19orf26_ENST00000382477.2_Missense_Mutation_p.D370N			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	370						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGGGGGGCATCCCCCTCCTCC	0.711										HNSCC(14;0.022)			21	78					0	0	0	0	T	1231206	C	T	1231206	3	4	380	1	0	0	0	0	1	0	0	0	1934	855	30	2	317	2	C19orf26	19	1231206	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		1231206	57897777	90	72930											
CACNA1A	773	broad.mit.edu	37	chr19	13441114	13441114	+	Frame_Shift_Del	DEL	G	G	-																															cttcggggttgagcaaatctGtcttgcttttctttatggtg																										TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:13441114delG	ENST00000360228.5	-	10	1288	c.1289delC	c.(1288-1290)aafs	p.T430fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.T431fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	431					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAGCAAATCTGTCTTGCTTTT	0.478													2	4	---	---	---	---					-	13441114	G	-	13441114	7	5	380	1	0	1	0	1	0	0	0	0	2563	1377	48	0	6494	0	CACNA1A	19	13441114	Frame_Shift_Del	DEL	G	TCGA-D6-A6EQ-01A-11D-A31L-08	12209908	13441114	45687869	91	72931											
UNC13A	23025	broad.mit.edu	37	chr19	17716877	17716877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgctaaggcgcaggcgCggcaccgccctcctcggcgg	4	3	15	19	8	0	0	0	0	0	0	2	0	1	0	4	5	0	3	4	5	1	1			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:17716877C>T	ENST00000428389.2	-	45	5361	c.5362G>A	c.(5362-5364)Gcg>Acg	p.A1788T	UNC13A_ENST00000252773.7_Missense_Mutation_p.A1700T|UNC13A_ENST00000519716.2_Missense_Mutation_p.A1700T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A1719T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A1694T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A1673T			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1700					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCGCAGGCGCGGCACCGCCC	0.736													9	6					0	0	0	0	T	17716877	C	T	17716877	3	4	380	1	0	0	0	0	1	0	0	0	17080	768	27	1	17	1	UNC13A	19	17716877	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	4275763	17716877	41412106	92	72932											
LRP3	4037	broad.mit.edu	37	chr19	33698459	33698459	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctggaggccagcgatgAtgaggccctgttggtctgtt	7	11	15	8	1	1	2	0	2	1	0	1	4	1	3	2	4	2	3	2	4	1	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:33698459A>T	ENST00000253193.7	+	7	2493	c.2291A>T	c.(2290-2292)gAt>gTt	p.D764V		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	764					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCCAGCGATGATGAGGCCCTG	0.657													9	26					0	0	0	0	T	33698459	A	T	33698459	3	4	380	1	0	0	0	0	1	0	0	0	9022	333	12	5	2317	5	LRP3	19	33698459	Missense_Mutation	SNP	A	TCGA-D6-A6EQ-01A-11D-A31L-08	15981582	33698459	25430524	93	72933											
ELSPBP1	64100	broad.mit.edu	37	chr19	48517558	48517558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagtggaagtactgccaGagtgaaggtgagtggtatca	11	8	16	6	0	1	3	1	2	0	1	1	4	1	4	2	4	2	2	2	4	4	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:48517558G>C	ENST00000339841.2	+	3	379	c.201G>C	c.(199-201)caG>caC	p.Q67H	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	67	Fibronectin type-II 1.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AGTACTGCCAGAGTGAAGGTG	0.473													8	70					0	0	0	0	C	48517558	G	C	48517558	3	2	380	1	0	0	0	0	1	0	0	0	5121	933	33	2	207	2	ELSPBP1	19	48517558	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	14819099	48517558	10611425	94	72934											
RALGAPA2	57186	broad.mit.edu	37	chr20	20618015	20618015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagtacttaccaagtacaGgtttgtagatgtttgttaac	13	14	8	6	0	0	1	0	0	0	1	0	1	0	1	1	1	5	6	1	1	7	7			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr20:20618015G>A	ENST00000202677.6	-	8	939	c.797C>T	c.(796-798)cCt>cTt	p.P266L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	266					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACCAAGTACAGGTTTGTAGAT	0.303													3	15					0	0	0	0	A	20618015	G	A	20618015	3	1	380	1	0	0	0	0	1	0	0	0	13096	1000	35	4	4952	4	RALGAPA2	20	20618015	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		20618015	42407505	95	72935											
CST9L	128821	broad.mit.edu	37	chr20	23546710	23546710	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagctccattgagaatacAgtcttggactccacctattg	11	12	8	10	0	1	1	0	1	1	1	3	3	3	2	3	1	2	2	3	1	4	6			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr20:23546710A>T	ENST00000376979.3	-	2	553	c.255T>A	c.(253-255)acT>acA	p.T85T		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	85						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTGAGAATACAGTCTTGGACT	0.458													45	166					0	0	0	0	T	23546710	A	T	23546710	2	4	380	1	0	0	0	0	0	0	0	1	4012	175	7	5		5	CST9L	20	23546710	Silent	SNP	A	TCGA-D6-A6EQ-01A-11D-A31L-08	2928695	23546710	39478810	96	72936											
ZNF334	55713	broad.mit.edu	37	chr20	45130776	45130776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacattcatagggtttttccCctgtgtgaattctctgatgc	7	17	8	9	0	2	2	1	2	1	0	4	2	3	2	2	1	2	1	2	1	3	6			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr20:45130776C>G	ENST00000457685.2	-	6	2411	c.1088G>C	c.(1087-1089)gGg>gCg	p.G363A	ZNF334_ENST00000347606.4_Missense_Mutation_p.G401A|ZNF334_ENST00000593880.1_Missense_Mutation_p.G424A			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGTTTTTCCCCTGTGTGAAT	0.433													14	110					0	0	0	0	G	45130776	C	G	45130776	3	3	380	1	0	0	0	0	1	0	0	0	17946	623	22	4	844	4	ZNF334	20	45130776	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	21584066	45130776	17894744	97	72937											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812859	31812859	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactttggccagatcctatCagacatcctgttactgccca	9	11	7	14	0	1	2	1	0	0	2	3	2	3	2	4	1	2	2	4	1	2	3	rs145057150		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr21:31812859C>T	ENST00000334067.3	+	1	263	c.214C>T	c.(214-216)Cag>Tag	p.Q72*		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	72						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGATCCTATCAGACATCCTG	0.512													47	85					0	0	0	0	T	31812859	C	T	31812859	4	4	380	1	0	0	0	0	0	1	0	0	8578	827	29	2	216	2	KRTAP15-1	21	31812859	Nonsense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		31812859	16317036	98	72938											
SYNJ1	8867	broad.mit.edu	37	chr21	34011985	34011985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaaagaggacctacctttCgacgtttctgatgttttgct	8	14	8	11	2	1	2	0	1	1	1	2	4	1	3	3	1	2	3	3	1	2	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr21:34011985C>T	ENST00000382499.2	-	30	3809	c.3810G>A	c.(3808-3810)tcG>tcA	p.S1270S	SYNJ1_ENST00000433931.2_Silent_p.S1270S|SYNJ1_ENST00000357345.3_Silent_p.S1215S|SYNJ1_ENST00000322229.7_Silent_p.S1231S|SYNJ1_ENST00000382491.3_Silent_p.S1184S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1231	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACCTACCTTTCGACGTTTCTG	0.527													8	37					0	0	0	0	T	34011985	C	T	34011985	2	4	380	1	0	0	0	0	0	0	0	1	15543	871	31	1		1	SYNJ1	21	34011985	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	2199126	34011985	14117910	99	72939											
NDUFV3	4731	broad.mit.edu	37	chr21	44324289	44324289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgttgagaataaccaCggtttccatgaaaagacagc	13	10	9	9	1	0	3	0	2	0	2	2	4	2	3	3	1	2	3	3	1	4	4			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr21:44324289C>T	ENST00000354250.2	+	3	1236	c.1167C>T	c.(1165-1167)caC>caT	p.H389H	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGAATAACCACGGTTTCCATG	0.572													8	31					0	0	0	0	T	44324289	C	T	44324289	2	4	380	1	0	0	0	0	0	0	0	1	10371	535	19	1		1	NDUFV3	21	44324289	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	10312304	44324289	3805606	100	72940											
PPIL2	23759	broad.mit.edu	37	chr22	22035601	22035601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctagggaagtaccactgCccagtgctgtttaccgtgtt	7	13	10	11	1	1	0	0	0	1	0	2	1	1	1	3	1	4	4	3	1	4	5			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr22:22035601C>T	ENST00000406385.1	+	7	369	c.309C>T	c.(307-309)tgC>tgT	p.C103C	PPIL2_ENST00000398831.3_Silent_p.C103C|PPIL2_ENST00000456792.2_Silent_p.C82C|PPIL2_ENST00000492445.2_Silent_p.C103C|PPIL2_ENST00000335025.7_Silent_p.C103C|PPIL2_ENST00000412327.1_Silent_p.C103C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	103					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AGTACCACTGCCCAGTGCTGT	0.607													15	46					0	0	0	0	T	22035601	C	T	22035601	2	4	380	1	0	0	0	0	0	0	0	1	12403	747	26	4		4	PPIL2	22	22035601	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08		22035601	29268965	101	72941											
SLC25A17	10478	broad.mit.edu	37	chr22	41169986	41169986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatattccgaagacttcccAatgttctgttttctgggttt	8	17	8	8	1	2	1	0	0	2	1	4	3	4	1	2	1	0	3	2	1	4	7			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr22:41169986A>G	ENST00000402844.3	-	4	1465	c.485T>C	c.(484-486)tTg>tCg	p.L162S	SLC25A17_ENST00000544408.1_Missense_Mutation_p.L207S|SLC25A17_ENST00000435456.2_Missense_Mutation_p.L244S|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L171S|SLC25A17_ENST00000491545.1_5'UTR			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	244					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						AAGACTTCCCAATGTTCTGTT	0.413													11	46					0	0	0	0	G	41169986	A	G	41169986	3	3	380	1	0	0	0	0	1	0	0	0	14567	131	5	5	200	5	SLC25A17	22	41169986	Missense_Mutation	SNP	A	TCGA-D6-A6EQ-01A-11D-A31L-08	19134385	41169986	10134580	102	72942											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682173	50682173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccagcccagagaggtccGcattgtctggcacggggggc	7	6	16	12	2	1	1	0	0	1	1	2	2	2	1	3	5	2	2	3	5	1	2			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr22:50682173G>A	ENST00000439308.2	-	1	1208	c.716C>T	c.(715-717)gCg>gTg	p.A239V	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.A239V	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	239					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGAGAGGTCCGCATTGTCTGG	0.542													4	74					0	0	0	0	A	50682173	G	A	50682173	3	1	380	1	0	0	0	0	1	0	0	0	16866	1087	38	1	4843	1	TUBGCP6	22	50682173	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08	9512187	50682173	622393	103	72943											
XPNPEP2	7512	broad.mit.edu	37	chrX	128879212	128879212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacatgacgagaggcgtGcgtggattacaggctttaca	11	8	13	9	3	0	2	0	1	0	1	0	4	0	3	1	3	4	1	1	3	3	3			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chrX:128879212G>A	ENST00000371106.3	+	4	460	c.268G>A	c.(268-270)Gcg>Acg	p.A90T	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.A90T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	90					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CGAGAGGCGTGCGTGGATTAC	0.493													18	20					0	0	0	0	A	128879212	G	A	128879212	3	1	380	1	0	0	0	0	1	0	0	0	17539	1319	46	4	282	4	XPNPEP2	23	128879212	Missense_Mutation	SNP	G	TCGA-D6-A6EQ-01A-11D-A31L-08		128879212	26391348	104	72944											
BCORL1	63035	broad.mit.edu	37	chrX	129171430	129171430	+	Missense_Mutation	SNP	C	C	T																															agccctgcatgaggcttgttCccggggctggaccgacatcc																										TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chrX:129171430C>T	ENST00000540052.1	+	8	4438	c.4394C>T	c.(4393-4395)tCc>tTc	p.S1465F	BCORL1_ENST00000303743.5_Missense_Mutation_p.S1539F|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1335F|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1465F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1465					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAGGCTTGTTCCCGGGGCTGG	0.592													35	31					0	0	0	0	T	129171430	C	T	129171430	3	4	380	1	0	0	0	0	1	0	0	0	1391	855	30	2	4650	2	BCORL1	23	129171430	Missense_Mutation	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	292218	129171430	26099130	105	72945	989	2									
BCORL1	63035	broad.mit.edu	37	chrX	129171431	129171431	+	Silent	SNP	C	C	T																															gccctgcatgaggcttgttcCcggggctggaccgacatcct																										TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chrX:129171431C>T	ENST00000540052.1	+	8	4439	c.4395C>T	c.(4393-4395)tcC>tcT	p.S1465S	BCORL1_ENST00000303743.5_Silent_p.S1539S|BCORL1_ENST00000359304.2_Silent_p.S1335S|BCORL1_ENST00000218147.7_Silent_p.S1465S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1465					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGCTTGTTCCCGGGGCTGGA	0.592													35	31					0	0	0	0	T	129171431	C	T	129171431	2	4	380	1	0	0	0	0	0	0	0	1	1391	610	22	4		4	BCORL1	23	129171431	Silent	SNP	C	TCGA-D6-A6EQ-01A-11D-A31L-08	1	129171431	26099129	106	72946	989	2									
PLCH2	9651	broad.mit.edu	37	chr1	2411336	2411336	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgaggtggcgcgcacCtgggtcactggcctgcgcta	6	6	16	13	4	1	0	1	0	0	0	1	1	1	0	2	4	3	3	2	4	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:2411336C>A	ENST00000449969.1	+	3	515	c.354C>A	c.(352-354)acC>acA	p.T118T	PLCH2_ENST00000378488.3_Silent_p.T145T|PLCH2_ENST00000419816.2_Silent_p.T145T|PLCH2_ENST00000378486.3_Silent_p.T145T|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	145	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGGCGCGCACCTGGGTCACTG	0.667													21	58					1.64113e-05	1.666e-05	1	0	A	2411336	C	A	2411336	2	1	381	1	0	0	0	0	0	0	0	1	12110	668	24	4		4	PLCH2	1	2411336	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		2411336	246839285	1	72947											
NOL9	79707	broad.mit.edu	37	chr1	6605202	6605202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgatgccaacagacctCaaggctaaatattcaggttt	12	12	7	10	0	3	2	2	1	1	1	3	2	3	2	2	2	2	2	2	2	5	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:6605202C>G	ENST00000377705.5	-	4	815	c.783G>C	c.(781-783)ttG>ttC	p.L261F		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	261					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CAACAGACCTCAAGGCTAAAT	0.373													27	89					0	0	0	0	G	6605202	C	G	6605202	3	3	381	1	0	0	0	0	1	0	0	0	10598	825	29	2	1361	2	NOL9	1	6605202	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	4193866	6605202	242645419	2	72948											
NBPF1	55672	broad.mit.edu	37	chr1	16907941	16907941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagatgattccagtactttCtcagcctcctcaacttgaac	10	12	6	13	0	2	3	2	2	1	1	5	3	4	3	3	0	4	2	3	0	3	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:16907941C>G	ENST00000430580.2	-	15	2240	c.1353G>C	c.(1351-1353)gaG>gaC	p.E451D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	451	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCAGTACTTTCTCAGCCTCCT	0.438													49	672					0	0	0	0	G	16907941	C	G	16907941	3	3	381	1	0	0	0	0	1	0	0	0	10262	912	32	2	2131	2	NBPF1	1	16907941	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	10302739	16907941	232342680	3	72949											
AIM1L	55057	broad.mit.edu	37	chr1	26655236	26655236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcactcacatgccccccttGatccgcacagacagcacatg	11	6	7	17	1	1	2	1	1	0	1	2	2	2	2	4	0	3	3	4	0	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:26655236G>C	ENST00000527815.1	-	15	1870	c.1821C>G	c.(1819-1821)atC>atG	p.I607M	AIM1L_ENST00000308182.5_Missense_Mutation_p.I436M	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	436	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCCCCCCTTGATCCGCACAG	0.612													50	97					0	0	0	0	C	26655236	G	C	26655236	3	2	381	1	0	0	0	0	1	0	0	0	431	1280	45	2	562	2	AIM1L	1	26655236	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	9747295	26655236	222595385	4	72950											
ARID1A	8289	broad.mit.edu	37	chr1	27058000	27058000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaacctcagcagccagcaCcctcgacgctctcccagcag	10	4	8	19	2	2	0	1	0	1	0	4	1	2	0	4	0	6	5	4	0	1	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:27058000C>A	ENST00000324856.7	+	3	2079	c.1708C>A	c.(1708-1710)Ccc>Acc	p.P570T	ARID1A_ENST00000457599.2_Missense_Mutation_p.P570T|ARID1A_ENST00000374152.2_Missense_Mutation_p.P187T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	570					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCCAGCACCCTCGACGCT	0.637			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								109	238					3.77807e-37	4.20134e-37	1	0	A	27058000	C	A	27058000	3	1	381	1	0	0	0	0	1	0	0	0	915	507	18	4	1718	4	ARID1A	1	27058000	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	402764	27058000	222192621	5	72951											
SMPDL3B	27293	broad.mit.edu	37	chr1	28282329	28282329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcatagcagggcagttcttCgggcaccaccacaccgacag	10	6	11	14	2	2	0	1	0	1	0	3	1	2	0	3	2	1	4	3	2	1	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:28282329C>T	ENST00000373894.3	+	6	1016	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SMPDL3B_ENST00000373888.4_Silent_p.F275F|SMPDL3B_ENST00000549094.1_Silent_p.F227F|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	275					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.F275F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGCAGTTCTTCGGGCACCACC	0.547													12	46					0	0	0	0	T	28282329	C	T	28282329	2	4	381	1	0	0	0	0	0	0	0	1	14897	883	31	1		1	SMPDL3B	1	28282329	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	1224329	28282329	220968292	6	72952											
EPB41	2035	broad.mit.edu	37	chr1	29313977	29313977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagaagagtttagtgactGaggccgaaaattcacagcac	15	7	11	8	1	1	4	1	2	0	2	1	6	1	4	1	1	1	2	1	1	4	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:29313977G>A	ENST00000343067.4	+	2	155	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EPB41_ENST00000347529.3_Missense_Mutation_p.E10K|EPB41_ENST00000373797.1_Missense_Mutation_p.E10K|EPB41_ENST00000373798.1_Missense_Mutation_p.E10K|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.E10K|EPB41_ENST00000356093.2_Missense_Mutation_p.E10K|EPB41_ENST00000349460.4_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	10					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTAGTGACTGAGGCCGAAAA	0.438													27	72					0	0	0	0	A	29313977	G	A	29313977	3	1	381	1	0	0	0	0	1	0	0	0	5189	1291	45	2	30	2	EPB41	1	29313977	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1031648	29313977	219936644	7	72953											
EPB41	2035	broad.mit.edu	37	chr1	29314085	29314085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaaacagcagctgaaggaGataattggtgtgaacagaag	16	7	13	5	0	1	4	1	2	0	2	1	5	1	4	0	2	4	2	0	2	5	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:29314085G>C	ENST00000343067.4	+	2	263	c.136G>C	c.(136-138)Gat>Cat	p.D46H	EPB41_ENST00000347529.3_Missense_Mutation_p.D46H|EPB41_ENST00000373797.1_Missense_Mutation_p.D46H|EPB41_ENST00000373798.1_Missense_Mutation_p.D46H|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.D46H|EPB41_ENST00000356093.2_Missense_Mutation_p.D46H|EPB41_ENST00000349460.4_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	46					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGCTGAAGGAGATAATTGGTG	0.463													65	147					0	0	0	0	C	29314085	G	C	29314085	3	2	381	1	0	0	0	0	1	0	0	0	5189	942	33	2	138	2	EPB41	1	29314085	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	108	29314085	219936536	8	72954											
MACF1	23499	broad.mit.edu	37	chr1	39763324	39763324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacgagagctggagtcattCttgaggaacctccaagattc	11	9	11	10	1	2	3	1	1	1	2	4	6	3	5	2	2	2	2	2	2	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:39763324C>G	ENST00000564288.1	+	21	3165	c.2388C>G	c.(2386-2388)ttC>ttG	p.F796L	MACF1_ENST00000567887.1_Missense_Mutation_p.F833L|MACF1_ENST00000539005.1_Missense_Mutation_p.F801L|MACF1_ENST00000361689.2_Missense_Mutation_p.F801L|MACF1_ENST00000545844.1_Missense_Mutation_p.F801L|MACF1_ENST00000317713.7_Missense_Mutation_p.F801L|MACF1_ENST00000372915.3_Missense_Mutation_p.F801L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	801					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGTCATTCTTGAGGAACC	0.443													33	75					0	0	0	0	G	39763324	C	G	39763324	3	3	381	1	0	0	0	0	1	0	0	0	9209	912	32	2	2481	2	MACF1	1	39763324	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	10449239	39763324	209487297	9	72955											
MACF1	23499	broad.mit.edu	37	chr1	39800890	39800890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcataatcttaaaggtaaatCcttgggccaagtgtcattga	13	13	8	7	0	3	1	2	1	1	0	4	1	4	1	2	2	0	1	2	2	6	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:39800890C>G	ENST00000564288.1	+	37	9407	c.8630C>G	c.(8629-8631)tCc>tGc	p.S2877C	MACF1_ENST00000567887.1_Missense_Mutation_p.S2914C|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S2882C|MACF1_ENST00000289893.4_Missense_Mutation_p.S1317C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2882					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGGTAAATCCTTGGGCCAA	0.353													24	44					0	0	0	0	G	39800890	C	G	39800890	3	3	381	1	0	0	0	0	1	0	0	0	9209	855	30	2	8721	2	MACF1	1	39800890	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	37566	39800890	209449731	10	72956											
PARS2	25973	broad.mit.edu	37	chr1	55224675	55224675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagggagagcacccggtCttcccgaaggttctgtggct	6	9	14	12	2	2	1	0	0	2	1	3	3	3	1	2	4	2	4	2	4	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:55224675C>G	ENST00000371279.3	-	2	242	c.160G>C	c.(160-162)Gac>Cac	p.D54H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	54					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCACCCGGTCTTCCCGAAGG	0.607													10	23					0	0	0	0	G	55224675	C	G	55224675	3	3	381	1	0	0	0	0	1	0	0	0	11538	913	32	2	1271	2	PARS2	1	55224675	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	15423785	55224675	194025946	11	72957											
C1orf87	127795	broad.mit.edu	37	chr1	60521104	60521104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttttcaagctgtcattCtccttgctgtgaagaaagaa	10	15	8	8	0	4	3	2	1	2	2	5	3	4	3	1	0	2	3	1	0	4	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:60521104C>A	ENST00000371201.3	-	3	221	c.114G>T	c.(112-114)gaG>gaT	p.E38D	C1orf87_ENST00000450089.2_Missense_Mutation_p.E38D	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	38							calcium ion binding	p.E38E(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCTGTCATTCTCCTTGCTGT	0.423													20	51					1.56452e-12	1.65076e-12	1	0	A	60521104	C	A	60521104	3	1	381	1	0	0	0	0	1	0	0	0	2084	912	32	2	1566	2	C1orf87	1	60521104	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	5296429	60521104	188729517	12	72958											
PTGER3	5733	broad.mit.edu	37	chr1	71512660	71512660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcccgggccactggaCggtgtactggcccacgccca	6	5	12	18	4	0	0	0	0	0	0	1	1	1	1	5	4	1	1	5	4	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:71512660C>A	ENST00000370924.4	-	1	831	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	PTGER3_ENST00000414819.1_Missense_Mutation_p.V201F|PTGER3_ENST00000354608.5_Missense_Mutation_p.V201F|PTGER3_ENST00000460330.1_Missense_Mutation_p.V201F|PTGER3_ENST00000351052.5_Missense_Mutation_p.V201F|PTGER3_ENST00000306666.5_Missense_Mutation_p.V201F|PTGER3_ENST00000370932.2_Missense_Mutation_p.V201F|PTGER3_ENST00000356595.4_Missense_Mutation_p.V201F|PTGER3_ENST00000370931.3_Missense_Mutation_p.V201F	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	201					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGCCACTGGACGGTGTACTGG	0.672													22	68					2.81731e-10	2.9379e-10	1	0	A	71512660	C	A	71512660	3	1	381	1	0	0	0	0	1	0	0	0	12824	536	19	3	890	3	PTGER3	1	71512660	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	10991556	71512660	177737961	13	72959											
LRRIQ3	127255	broad.mit.edu	37	chr1	74575094	74575094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacatgtttccaatatgcaAgctttccttttatattagtt	10	20	4	7	0	0	0	0	0	0	0	2	0	2	0	2	0	3	4	2	0	7	9			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:74575094A>G	ENST00000354431.4	-	5	1042	c.851T>C	c.(850-852)cTt>cCt	p.L284P	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L284P|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.L176P|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	284										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCAATATGCAAGCTTTCCTTT	0.269													9	19					0	0	0	0	G	74575094	A	G	74575094	3	3	381	1	0	0	0	0	1	0	0	0	9094	72	3	5	1039	5	LRRIQ3	1	74575094	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	3062434	74575094	174675527	14	72960											
USP33	23032	broad.mit.edu	37	chr1	78183706	78183706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaacattagttcatgtctGaatcttttaaggtggatgca	13	14	9	5	0	3	1	1	1	2	0	3	3	3	2	0	2	2	2	0	2	5	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:78183706G>A	ENST00000370793.1	-	18	2203	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	USP33_ENST00000370794.3_Silent_p.F588F|USP33_ENST00000357428.1_Silent_p.F619F|USP33_ENST00000370792.3_Silent_p.F611F	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	619					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GTTCATGTCTGAATCTTTTAA	0.333													25	56					0	0	0	0	A	78183706	G	A	78183706	2	1	381	1	0	0	0	0	0	0	0	1	17160	1281	45	2		2	USP33	1	78183706	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	3608612	78183706	171066915	15	72961											
LRRC39	127495	broad.mit.edu	37	chr1	100618068	100618068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcagtgggttgtctctGaagttgacaaacctagaagt	12	13	10	6	0	2	3	1	2	1	1	3	3	2	3	1	1	1	2	1	1	5	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:100618068G>A	ENST00000370138.1	-	9	1023	c.825C>T	c.(823-825)ttC>ttT	p.F275F	LRRC39_ENST00000370137.1_Silent_p.F275F|LRRC39_ENST00000342895.3_Silent_p.F275F	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	275								p.F275F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GGTTGTCTCTGAAGTTGACAA	0.373													28	63					0	0	0	0	A	100618068	G	A	100618068	2	1	381	1	0	0	0	0	0	0	0	1	9059	1281	45	2		2	LRRC39	1	100618068	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	22434362	100618068	148632553	16	72962											
KCND3	3752	broad.mit.edu	37	chr1	112318791	112318791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtggccgactttccccctCtggggttagcgctgggggag	3	9	18	11	2	1	0	0	0	1	0	2	2	2	1	3	6	1	2	3	6	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:112318791C>T	ENST00000369697.1	-	6	1888	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	KCND3_ENST00000315987.2_Missense_Mutation_p.E626K|KCND3_ENST00000302127.4_Missense_Mutation_p.E607K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	626						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTTTCCCCCTCTGGGGTTAGC	0.557													49	66					0	0	0	0	T	112318791	C	T	112318791	3	4	381	1	0	0	0	0	1	0	0	0	8073	922	32	2	95	2	KCND3	1	112318791	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	11700723	112318791	136931830	17	72963											
MAGI3	260425	broad.mit.edu	37	chr1	114165595	114165595	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaagatggtcccgcagctCaggatgggaaaattgcacca	13	7	12	9	1	1	2	1	1	0	1	2	4	2	4	2	3	2	3	2	3	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:114165595C>T	ENST00000369615.1	+	9	1401	c.1339C>T	c.(1339-1341)Cag>Tag	p.Q447*	MAGI3_ENST00000307546.9_Nonsense_Mutation_p.Q447*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Q447*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Q472*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	472	Interaction with PTEN.|PDZ 2.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		TCCCGCAGCTCAGGATGGGAA	0.328													13	15					0	0	0	0	T	114165595	C	T	114165595	4	4	381	1	0	0	0	0	0	1	0	0	9261	827	29	2	1373	2	MAGI3	1	114165595	Nonsense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	1846804	114165595	135085026	18	72964											
RBM8A	9939	broad.mit.edu	37	chr1	145508209	145508209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgtatgtcccttatagaaGaggggtcccgagcgcggatg	8	9	15	9	4	0	2	0	0	0	2	2	4	2	3	2	3	1	1	2	3	4	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:145508209G>C	ENST00000330165.7	+	3	199	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	RP11-315I20.1_ENST00000596355.1_RNA|RBM8A_ENST00000369307.3_Splice_Site|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000412239.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	44					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTTATAGAAGAGGGGTCCCG	0.547											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	56					0	0	0	0	C	145508209	G	C	145508209	3	2	381	1	0	0	0	0	1	0	0	0	13228	943	33	2	140	2	RBM8A	1	145508209	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	31342614	145508209	103742412	19	72965											
LCE5A	254910	broad.mit.edu	37	chr1	152484287	152484287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtggcagtggcagtGgccagcagtctgggggctcc	4	8	18	11	0	1	0	0	0	1	0	2	0	2	0	2	5	2	6	2	5	0	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:152484287G>A	ENST00000334269.2	+	2	453	c.277G>A	c.(277-279)Ggc>Agc	p.G93S		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	93	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTGGCAGTGGCCAGCAGTC	0.687													26	40					0	0	0	0	A	152484287	G	A	152484287	3	1	381	1	0	0	0	0	1	0	0	0	8728	1348	47	4	279	4	LCE5A	1	152484287	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	6976078	152484287	96766334	20	72966											
S100A7	6278	broad.mit.edu	37	chr1	153431471	153431471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgcctattatggacctctCagcttgagtgttgctcatct	7	15	8	11	0	3	1	2	1	2	0	4	2	3	2	2	1	3	3	2	1	2	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:153431471C>G	ENST00000368723.3	-	2	129	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	S100A7_ENST00000368722.1_Missense_Mutation_p.E7Q	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	7					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGGACCTCTCAGCTTGAGTG	0.408													43	79					0	0	0	0	G	153431471	C	G	153431471	3	3	381	1	0	0	0	0	1	0	0	0	13868	835	29	2	294	2	S100A7	1	153431471	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	947184	153431471	95819150	21	72967											
AIM2	9447	broad.mit.edu	37	chr1	159035750	159035750	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttccaaggggctgagtttGaagcgtgttgatcttcgggg	6	13	16	6	2	1	3	0	3	1	0	3	3	2	3	1	4	1	4	1	4	2	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:159035750G>A	ENST00000368130.4	-	4	1054	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	256	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GGCTGAGTTTGAAGCGTGTTG	0.393													23	48					0	0	0	0	A	159035750	G	A	159035750	4	1	381	1	0	0	0	0	0	1	0	0	432	1299	45	2	277	2	AIM2	1	159035750	Nonsense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	5604279	159035750	90214871	22	72968											
PRRX1	5396	broad.mit.edu	37	chr1	170705312	170705312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttacagaggaaccaggtGccaacagtcaactgaggaaa	16	6	11	8	0	1	2	1	1	0	1	1	4	1	4	2	3	5	1	2	3	5	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:170705312G>A	ENST00000239461.6	+	4	1036	c.723G>A	c.(721-723)gtG>gtA	p.V241V	PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	241						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAACCAGGTGCCAACAGTCA	0.438													39	60					0	0	0	0	A	170705312	G	A	170705312	2	1	381	1	0	0	0	0	0	0	0	1	12691	1306	46	4		4	PRRX1	1	170705312	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	11669562	170705312	78545309	23	72969											
RFWD2	64326	broad.mit.edu	37	chr1	176132984	176132984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtggtccaatttgaacctCttttcctcaaatctttgctt	8	17	6	10	0	3	1	1	1	2	0	5	2	5	1	3	1	2	1	3	1	3	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:176132984C>T	ENST00000367669.3	-	4	1123	c.609G>A	c.(607-609)aaG>aaA	p.K203K	RFWD2_ENST00000308769.8_Silent_p.K203K	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	203					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTTGAACCTCTTTTCCTCAA	0.269													5	23					0	0	0	0	T	176132984	C	T	176132984	2	4	381	1	0	0	0	0	0	0	0	1	13342	912	32	2		2	RFWD2	1	176132984	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	5427672	176132984	73117637	24	72970											
PAPPA2	60676	broad.mit.edu	37	chr1	176668239	176668239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaatctccccccagggcCtcctgatgtggatcagccct	6	10	9	16	0	2	1	1	1	1	0	4	2	3	2	6	2	2	1	6	2	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:176668239C>T	ENST00000367662.3	+	8	3914	c.2750C>T	c.(2749-2751)cCt>cTt	p.P917L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	917					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCCAGGGCCTCCTGATGTG	0.537													41	60					0	0	0	0	T	176668239	C	T	176668239	3	4	381	1	0	0	0	0	1	0	0	0	11504	681	24	4	2829	4	PAPPA2	1	176668239	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	535255	176668239	72582382	25	72971											
ATP6V1G3	127124	broad.mit.edu	37	chr1	198498295	198498295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcctccttggcttgcttCaatcgctttccttttcctga	3	18	6	14	1	1	1	1	1	0	0	6	1	5	1	4	1	1	4	4	1	1	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:198498295C>G	ENST00000309309.7	-	4	250	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.L33F|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.L33F|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.L39F|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.L39F	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	0					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TGGCTTGCTTCAATCGCTTTC	0.274													36	44					0	0	0	0	G	198498295	C	G	198498295	3	3	381	1	0	0	0	0	1	0	0	0	1192	835	29	2	265	2	ATP6V1G3	1	198498295	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	21830056	198498295	50752326	26	72972											
SLC45A3	85414	broad.mit.edu	37	chr1	205632310	205632310	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgaggaagatgagggtGagcaggccaaagaggcactc	13	4	17	7	0	0	5	0	3	0	2	1	6	0	6	1	5	1	2	1	5	2	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:205632310G>C	ENST00000367145.3	-	3	904	c.609C>G	c.(607-609)ctC>ctG	p.L203L		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	203					transmembrane transport	integral to membrane			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)			AGATGAGGGTGAGCAGGCCAA	0.677			T	"ETV1, ETV5, ELK4, ERG"	prostate								13	17					0	0	0	0	C	205632310	G	C	205632310	2	2	381	1	0	0	0	0	0	0	0	1	14730	1277	45	2		2	SLC45A3	1	205632310	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	7134015	205632310	43618311	27	72973											
PTPN14	5784	broad.mit.edu	37	chr1	214625281	214625281	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacccatcgtgcttgctGgctcttgctgagaaaccaaa	9	10	8	14	1	1	1	0	1	1	1	3	2	2	1	3	1	4	4	3	1	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:214625281G>A	ENST00000366956.5	-	3	405	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q71*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	71	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			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)		CGTGCTTGCTGGCTCTTGCTG	0.463													20	32					0	0	0	0	A	214625281	G	A	214625281	4	1	381	1	0	0	0	0	0	1	0	0	12863	1357	47	4	3420	4	PTPN14	1	214625281	Nonsense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	8992971	214625281	34625340	28	72974											
HLX	3142	broad.mit.edu	37	chr1	221054599	221054599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctcaggcctgcagccctCggccggccagttcttcgcat	4	9	10	18	3	2	0	1	0	2	0	5	0	2	0	5	3	2	3	5	3	0	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:221054599C>T	ENST00000366903.6	+	2	2157	c.656C>T	c.(655-657)tCg>tTg	p.S219L	HLX_ENST00000549319.1_5'UTR	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	219					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTGCAGCCCTCGGCCGGCCAG	0.562													57	113					0	0	0	0	T	221054599	C	T	221054599	3	4	381	1	0	0	0	0	1	0	0	0	7266	893	31	1	662	1	HLX	1	221054599	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	6429318	221054599	28196022	29	72975											
KIF26B	55083	broad.mit.edu	37	chr1	245582994	245582994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctcgcagggctcctgCgtggccagcgagacttccac	6	6	12	17	3	0	1	0	0	0	1	3	2	2	1	5	2	3	2	5	2	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:245582994C>T	ENST00000407071.2	+	4	1553	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	371					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGGCTCCTGCGTGGCCAGCG	0.592													29	76					0	0	0	0	T	245582994	C	T	245582994	2	4	381	1	0	0	0	0	0	0	0	1	8346	776	27	1		1	KIF26B	1	245582994	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	24528395	245582994	3667627	30	72976											
GREB1	9687	broad.mit.edu	37	chr2	11696814	11696814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcacaattccatcgaggcatCcctgcggtccaacaacctgg	10	7	9	15	2	0	0	0	0	0	0	4	1	3	0	4	3	3	2	4	3	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:11696814C>G	ENST00000381486.2	+	2	374	c.74C>G	c.(73-75)tCc>tGc	p.S25C	GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.S25C|GREB1_ENST00000263834.5_Missense_Mutation_p.S25C|GREB1_ENST00000381483.2_Missense_Mutation_p.S25C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	25						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATCGAGGCATCCCTGCGGTCC	0.537													25	47					0	0	0	0	G	11696814	C	G	11696814	3	3	381	1	0	0	0	0	1	0	0	0	6810	855	30	2	76	2	GREB1	2	11696814	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		11696814	231502559	31	72977											
LPIN1	23175	broad.mit.edu	37	chr2	11911569	11911569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgagaatggaatgccagctGaaaaggggctctgtggacag	12	7	15	7	1	1	2	0	1	1	1	2	5	1	4	1	4	2	2	1	4	4	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:11911569G>A	ENST00000256720.2	+	4	453	c.360G>A	c.(358-360)ctG>ctA	p.L120L	LPIN1_ENST00000449576.2_Silent_p.L169L|LPIN1_ENST00000396099.1_Silent_p.L126L|LPIN1_ENST00000396098.1_Silent_p.L126L|LPIN1_ENST00000425416.2_Silent_p.L126L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	120					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AATGCCAGCTGAAAAGGGGCT	0.532													19	38					0	0	0	0	A	11911569	G	A	11911569	2	1	381	1	0	0	0	0	0	0	0	1	8982	1277	45	2		2	LPIN1	2	11911569	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	214755	11911569	231287804	32	72978											
GDF7	151449	broad.mit.edu	37	chr2	20871119	20871119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcatcctctacatcgaCgccgccaacaacgttgtcta	11	9	6	15	4	3	0	1	0	2	0	5	1	4	0	3	0	4	2	3	0	4	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:20871119C>T	ENST00000272224.3	+	2	1863	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	429					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTACATCGACGCCGCCAACA	0.667													13	30					0	0	0	0	T	20871119	C	T	20871119	2	4	381	1	0	0	0	0	0	0	0	1	6369	535	19	1		1	GDF7	2	20871119	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	8959550	20871119	222328254	33	72979											
THADA	63892	broad.mit.edu	37	chr2	43458176	43458176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aactagggtgtcttccccttCctttccttccaaaaaggcca	9	12	6	14	0	1	0	0	0	1	0	5	0	5	0	6	2	1	0	6	2	4	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:43458176C>G	ENST00000405006.4	-	38	6124	c.5773G>C	c.(5773-5775)Gaa>Caa	p.E1925Q	THADA_ENST00000415080.2_Missense_Mutation_p.E1606Q|THADA_ENST00000405975.2_Missense_Mutation_p.E1925Q|THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1925							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTTCCCCTTCCTTTCCTTCC	0.473													17	22					0	0	0	0	G	43458176	C	G	43458176	3	3	381	1	0	0	0	0	1	0	0	0	15934	864	30	2	92	2	THADA	2	43458176	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	22587057	43458176	199741197	34	72980											
FOXN2	3344	broad.mit.edu	37	chr2	48573745	48573745	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgagcactctccaaataAatgtttgcctgtcaaagaaa	15	11	6	9	0	2	2	1	1	1	1	3	2	2	2	2	0	2	2	2	0	5	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:48573745A>C	ENST00000340553.3	+	3	653	c.392A>C	c.(391-393)aAa>aCa	p.K131T		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	131					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TCTCCAAATAAATGTTTGCCT	0.408													63	139					0	0	0	0	C	48573745	A	C	48573745	3	2	381	1	0	0	0	0	1	0	0	0	6067	14	1	5	394	5	FOXN2	2	48573745	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	5115569	48573745	194625628	35	72981											
CCDC88A	55704	broad.mit.edu	37	chr2	55549805	55549805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcatcttgtctctgtttGagagcttcataatttttttt	6	22	5	8	0	4	1	2	1	2	1	6	2	5	1	1	0	1	2	1	0	1	8			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:55549805G>A	ENST00000436346.1	-	18	3862	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.L1006L|CCDC88A_ENST00000336838.6_Silent_p.L1006L|CCDC88A_ENST00000263630.8_Silent_p.L1007L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1007					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTCTCTGTTTGAGAGCTTCAT	0.343													16	22					0	0	0	0	A	55549805	G	A	55549805	2	1	381	1	0	0	0	0	0	0	0	1	2890	1277	45	2		2	CCDC88A	2	55549805	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	6976060	55549805	187649568	36	72982											
SMYD1	150572	broad.mit.edu	37	chr2	88405915	88405915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccaacatctacatgctGcggatgctgagcattgtttc	10	11	9	11	1	1	1	0	1	1	0	2	3	1	2	1	1	6	4	1	1	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:88405915G>A	ENST00000419482.2	+	8	1138	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	SMYD1_ENST00000444564.2_Silent_p.L338L|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTACATGCTGCGGATGCTGA	0.537													23	39					0	0	0	0	A	88405915	G	A	88405915	2	1	381	1	0	0	0	0	0	0	0	1	14909	1306	46	4		4	SMYD1	2	88405915	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	32856110	88405915	154793458	37	72983											
NPHP1	4867	broad.mit.edu	37	chr2	110905498	110905498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcaacggacatacattgcGaatataagaaattccaagtt	16	12	6	7	2	1	1	1	0	0	1	2	3	2	2	1	1	3	1	1	1	7	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:110905498G>A	ENST00000316534.4	-	13	1505	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	NPHP1_ENST00000393272.3_Missense_Mutation_p.R477C|NPHP1_ENST00000445609.2_Missense_Mutation_p.R422C|NPHP1_ENST00000355301.4_Missense_Mutation_p.R359C|NPHP1_ENST00000417665.1_Missense_Mutation_p.R421C			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	477					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATACATTGCGAATATAAGAA	0.338													20	44					0	0	0	0	A	110905498	G	A	110905498	3	1	381	1	0	0	0	0	1	0	0	0	10649	1058	37	1	801	1	NPHP1	2	110905498	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	22499583	110905498	132293875	38	72984											
ACOXL	55289	broad.mit.edu	37	chr2	111691212	111691212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggactgccgcgagtgcactgGaggcatggtgagccccaagg	8	5	17	11	2	0	1	0	1	0	0	0	4	0	3	3	5	3	2	3	5	1	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:111691212G>C	ENST00000389811.4	+	12	1276	c.1052G>C	c.(1051-1053)gGa>gCa	p.G351A	ACOXL_ENST00000439055.1_Missense_Mutation_p.G351A			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	351					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GAGTGCACTGGAGGCATGGTG	0.652													4	16					0	0	0	0	C	111691212	G	C	111691212	3	2	381	1	0	0	0	0	1	0	0	0	161	1174	41	2	1094	2	ACOXL	2	111691212	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	785714	111691212	131508161	39	72985											
ZEB2	9839	broad.mit.edu	37	chr2	145155960	145155960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtaggccatatgtggtaGgaagctcatctgatccagtc	9	11	13	8	0	2	1	1	1	1	0	4	2	3	2	2	4	1	3	2	4	4	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:145155960G>C	ENST00000558170.2	-	8	3978	c.2794C>G	c.(2794-2796)Cta>Gta	p.L932V	ZEB2_ENST00000409487.3_Missense_Mutation_p.L932V|ZEB2_ENST00000303660.4_Missense_Mutation_p.L932V|ZEB2_ENST00000539609.3_Missense_Mutation_p.L908V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	932						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATGTGGTAGGAAGCTCATC	0.502													49	93					0	0	0	0	C	145155960	G	C	145155960	3	2	381	1	0	0	0	0	1	0	0	0	17719	991	35	4	862	4	ZEB2	2	145155960	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	33464748	145155960	98043413	40	72986											
NEB	4703	broad.mit.edu	37	chr2	152383456	152383456	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttctattaaagtattcctGagggcgagcaccgtgttttt	8	16	9	8	2	1	1	0	1	1	0	2	2	2	1	2	1	1	3	2	1	4	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:152383456G>C	ENST00000397345.3	-	148	22123	c.21921C>G	c.(21919-21921)ctC>ctG	p.L7307L	NEB_ENST00000603639.1_Silent_p.L7307L|NEB_ENST00000409198.1_Silent_p.L5606L|NEB_ENST00000604864.1_Silent_p.L7307L|NEB_ENST00000172853.10_Silent_p.L5606L|NEB_ENST00000427231.2_Silent_p.L7307L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5606					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTATTCCTGAGGGCGAGCA	0.473													3	6					0	0	0	0	C	152383456	G	C	152383456	2	2	381	1	0	0	0	0	0	0	0	1	10372	1277	45	2		2	NEB	2	152383456	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	7227496	152383456	90815917	41	72987											
LRP2	4036	broad.mit.edu	37	chr2	170150718	170150718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtcacagacataagcacGagggatacactctccattgc	13	8	9	11	1	2	1	1	0	1	1	3	3	2	2	1	2	3	1	1	2	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:170150718G>A	ENST00000263816.3	-	6	877	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	LRP2_ENST00000443831.1_Missense_Mutation_p.R198C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	198	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACATAAGCACGAGGGATACAC	0.443													45	65					0	0	0	0	A	170150718	G	A	170150718	3	1	381	1	0	0	0	0	1	0	0	0	9020	1058	37	1	13671	1	LRP2	2	170150718	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	17767262	170150718	73048655	42	72988											
HOXD13	3239	broad.mit.edu	37	chr2	176958041	176958041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactacagctgccgtatgtcGcacggcgtgggcttacagca	8	9	12	12	4	0	0	0	0	0	0	1	0	0	0	1	2	6	5	1	2	4	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:176958041G>A	ENST00000392539.3	+	1	423	c.423G>A	c.(421-423)tcG>tcA	p.S141S		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	141					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCCGTATGTCGCACGGCGTGG	0.667			T	NUP98	AML*								16	27					0	0	0	0	A	176958041	G	A	176958041	2	1	381	1	0	0	0	0	0	0	0	1	7372	1074	38	1		1	HOXD13	2	176958041	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	6807323	176958041	66241332	43	72989											
TTN	7273	broad.mit.edu	37	chr2	179452442	179452442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggggctggtcgtcctctCactatagcaaagagacgaat	11	10	11	9	2	1	1	1	0	1	1	4	3	2	1	1	3	1	2	1	3	5	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:179452442C>T	ENST00000589042.1	-	306	63818	c.63594G>A	c.(63592-63594)gtG>gtA	p.V21198V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.V19557V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V12258V|TTN_ENST00000460472.2_Silent_p.V12133V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.V12325V|TTN_ENST00000342992.6_Silent_p.V18630V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19557							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGTCCTCTCACTATAGCAA	0.463													20	25					0	0	0	0	T	179452442	C	T	179452442	2	4	381	1	0	0	0	0	0	0	0	1	16831	813	29	2		2	TTN	2	179452442	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	2494401	179452442	63746931	44	72990											
COL6A3	1293	broad.mit.edu	37	chr2	238253353	238253353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccccgtgggcagttgctCtcagcaatggtcaggtcatt	6	10	12	13	1	3	0	3	0	1	0	4	0	3	0	3	3	2	4	3	3	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:238253353C>G	ENST00000295550.4	-	36	7760	c.7308G>C	c.(7306-7308)gaG>gaC	p.E2436D	COL6A3_ENST00000347401.3_Missense_Mutation_p.E2235D|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2230D|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2236D|COL6A3_ENST00000353578.4_Missense_Mutation_p.E2230D|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1829D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2436	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCAGTTGCTCTCAGCAATGG	0.562													47	104					0	0	0	0	G	238253353	C	G	238253353	3	3	381	1	0	0	0	0	1	0	0	0	3731	912	32	2	2261	2	COL6A3	2	238253353	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	58800911	238253353	4946020	45	72991											
HDLBP	3069	broad.mit.edu	37	chr2	242176088	242176088	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagatgatgatgatgTcacacctccttggagagccg	10	8	13	10	1	1	5	1	3	0	2	2	7	2	5	4	2	1	0	4	2	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:242176088T>A	ENST00000391975.1	-	21	3073	c.2846A>T	c.(2845-2847)gAc>gTc	p.D949V	HDLBP_ENST00000391976.2_Missense_Mutation_p.D949V|HDLBP_ENST00000427183.2_Missense_Mutation_p.D916V|HDLBP_ENST00000310931.4_Missense_Mutation_p.D949V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	949	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATGATGATGTCACACCTCCT	0.577													37	70					0	0	0	0	A	242176088	T	A	242176088	3	1	381	1	0	0	0	0	1	0	0	0	7075	1667	58	5	992	5	HDLBP	2	242176088	Missense_Mutation	SNP	T	TCGA-D6-A6ES-01A-12D-A31L-08	3922735	242176088	1023285	46	72992											
GRM7	2917	broad.mit.edu	37	chr3	6903387	6903387	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacgtgacgctgggcgcgcgGatcctggacacttgttccag	7	8	14	12	5	0	1	0	1	0	0	2	3	2	3	2	3	1	2	2	3	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:6903387G>T	ENST00000486284.1	+	1	586	c.312G>T	c.(310-312)cgG>cgT	p.R104R	GRM7_ENST00000403881.1_Silent_p.R104R|GRM7_ENST00000389336.4_Silent_p.R104R|GRM7_ENST00000402647.2_Silent_p.R104R|GRM7_ENST00000357716.4_Silent_p.R104R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	104					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGGCGCGCGGATCCTGGACA	0.597													11	16					1.58986e-06	1.62009e-06	1	0	T	6903387	G	T	6903387	2	4	381	1	0	0	0	0	0	0	0	1	6852	1161	41	2		2	GRM7	3	6903387	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		6903387	191119043	47	72993											
ANO10	55129	broad.mit.edu	37	chr3	43618486	43618486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacccaagacaccatgaaatCctggccggggctcctcaaac	12	6	8	15	1	1	2	1	1	0	1	3	2	3	2	5	3	2	1	5	3	4	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:43618486C>T	ENST00000292246.3	-	6	1030	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.G221E|ANO10_ENST00000414522.2_Missense_Mutation_p.G287E|ANO10_ENST00000451430.2_Missense_Mutation_p.G176E	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	287					cell death	chloride channel complex	chloride channel activity	p.G287E(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ACCATGAAATCCTGGCCGGGG	0.542													34	20					0	0	0	0	T	43618486	C	T	43618486	3	4	381	1	0	0	0	0	1	0	0	0	695	855	30	2	1154	2	ANO10	3	43618486	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	36715099	43618486	154403944	48	72994											
MAGI1	9223	broad.mit.edu	37	chr3	65387126	65387126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccttaccgactttgggctCttcttgggaactggcagccc	5	12	11	13	1	2	0	0	0	2	0	3	2	3	1	3	3	3	2	3	3	2	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:65387126C>G	ENST00000330909.8	-	13	2186	c.2187G>C	c.(2185-2187)aaG>aaC	p.K729N	MAGI1_ENST00000402939.2_Missense_Mutation_p.K729N|MAGI1_ENST00000483466.1_Missense_Mutation_p.K729N|MAGI1_ENST00000497477.2_Missense_Mutation_p.K729N	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	729					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACTTTGGGCTCTTCTTGGGAA	0.512													3	3					0	0	0	0	G	65387126	C	G	65387126	3	3	381	1	0	0	0	0	1	0	0	0	9259	912	32	2	2479	2	MAGI1	3	65387126	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	21768640	65387126	132635304	49	72995											
ARHGAP31	57514	broad.mit.edu	37	chr3	119128590	119128590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accctgcaggagagccccagGgccagagccgaagctgtgct	9	4	14	14	1	0	2	0	0	0	2	0	4	0	2	5	2	5	3	5	2	1	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:119128590G>C	ENST00000264245.4	+	11	2425	c.1893G>C	c.(1891-1893)agG>agC	p.R631S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	631					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAGCCCCAGGGCCAGAGCCG	0.532													4	19					0	0	0	0	C	119128590	G	C	119128590	3	2	381	1	0	0	0	0	1	0	0	0	882	1223	43	4	1935	4	ARHGAP31	3	119128590	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	53741464	119128590	78893840	50	72996											
POLQ	10721	broad.mit.edu	37	chr3	121206688	121206688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctttttacttcattattaGaagaaaatgaaattccctgc	13	16	5	7	0	1	3	1	1	0	2	2	3	2	3	1	0	3	1	1	0	7	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:121206688G>A	ENST00000264233.5	-	16	5218	c.5090C>T	c.(5089-5091)tCt>tTt	p.S1697F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1697					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCATTATTAGAAGAAAATGA	0.308								DNA polymerases (catalytic subunits)					40	66					0	0	0	0	A	121206688	G	A	121206688	3	1	381	1	0	0	0	0	1	0	0	0	12280	942	33	2	2742	2	POLQ	3	121206688	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	2078098	121206688	76815742	51	72997											
DZIP1L	199221	broad.mit.edu	37	chr3	137781805	137781805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggagatctccaagtcactCtcatcttcagaaagctgcag	12	9	9	11	0	5	2	3	0	3	2	7	4	5	2	1	1	2	2	1	1	2	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:137781805C>G	ENST00000327532.2	-	16	2519	c.2157G>C	c.(2155-2157)gaG>gaC	p.E719D		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	719						intracellular	zinc ion binding	p.E719D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCAAGTCACTCTCATCTTCAG	0.507													21	84					0	0	0	0	G	137781805	C	G	137781805	3	3	381	1	0	0	0	0	1	0	0	0	4900	912	32	2	150	2	DZIP1L	3	137781805	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	16575117	137781805	60240625	52	72998											
GRK7	131890	broad.mit.edu	37	chr3	141499603	141499603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggcaactgcaggttatctGacctggggctggccgtggag	6	9	16	10	2	1	1	0	1	1	0	2	2	1	2	2	6	2	4	2	6	2	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:141499603G>A	ENST00000264952.2	+	2	1137	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	334	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CAGGTTATCTGACCTGGGGCT	0.587													12	50					0	0	0	0	A	141499603	G	A	141499603	3	1	381	1	0	0	0	0	1	0	0	0	6844	1290	45	2	1006	2	GRK7	3	141499603	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	3717798	141499603	56522827	53	72999											
AADAC	13	broad.mit.edu	37	chr3	151545457	151545457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtagatttaccgtcatatCaagaaaattcaaattttcta	16	15	4	6	1	4	2	3	0	1	2	4	2	4	2	1	0	1	1	1	0	8	8			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:151545457C>G	ENST00000232892.6	+	5	823	c.697C>G	c.(697-699)Caa>Gaa	p.Q233E	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	233					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCGTCATATCAAGAAAATTC	0.368													21	83					0	0	0	0	G	151545457	C	G	151545457	3	3	381	1	0	0	0	0	1	0	0	0	10	827	29	2	715	2	AADAC	3	151545457	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	10045854	151545457	46476973	54	73000											
KCNAB1	7881	broad.mit.edu	37	chr3	156175318	156175318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccgaagtctatgctgctgGaaagtaagtcagtacctgtt	10	12	11	8	1	2	0	1	0	1	0	2	2	2	1	2	1	4	5	2	1	5	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:156175318G>A	ENST00000302490.8	+	4	1251	c.380G>A	c.(379-381)gGa>gAa	p.G127E	KCNAB1_ENST00000389634.5_Missense_Mutation_p.G127E|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G145E|KCNAB1_ENST00000490337.1_Missense_Mutation_p.G145E|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G134E	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	145						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TATGCTGCTGGAAAGTAAGTC	0.473													29	153					0	0	0	0	A	156175318	G	A	156175318	3	1	381	1	0	0	0	0	1	0	0	0	8062	1174	41	2	919	2	KCNAB1	3	156175318	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	4629861	156175318	41847112	55	73001											
MCF2L2	23101	broad.mit.edu	37	chr3	182937677	182937677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctagttcacctgggtctatCtccatatcttcaggagactc	8	13	7	13	0	5	1	2	0	3	1	7	2	5	1	3	2	0	1	3	2	3	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:182937677C>G	ENST00000328913.3	-	21	2634	c.2337G>C	c.(2335-2337)gaG>gaC	p.E779D	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E779D	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	779	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGGGTCTATCTCCATATCTT	0.373													35	81					0	0	0	0	G	182937677	C	G	182937677	3	3	381	1	0	0	0	0	1	0	0	0	9449	912	32	2	1047	2	MCF2L2	3	182937677	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	26762359	182937677	15084753	56	73002											
YEATS2	55689	broad.mit.edu	37	chr3	183479328	183479328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttgcatctatgccacctCtttgcccaattgggagtcac	7	14	8	12	0	3	0	1	0	2	0	3	1	3	1	3	1	3	2	3	1	2	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:183479328C>G	ENST00000305135.5	+	14	1885	c.1690C>G	c.(1690-1692)Ctt>Gtt	p.L564V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	564					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATGCCACCTCTTTGCCCAAT	0.413													47	165					0	0	0	0	G	183479328	C	G	183479328	3	3	381	1	0	0	0	0	1	0	0	0	17568	913	32	2	1740	2	YEATS2	3	183479328	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	541651	183479328	14543102	57	73003											
YEATS2	55689	broad.mit.edu	37	chr3	183526931	183526931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgagacaggctttggcagTtggataccagacagcttctc	9	10	11	11	0	1	2	0	1	1	2	2	4	1	3	2	3	2	4	2	3	1	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:183526931T>C	ENST00000305135.5	+	30	4328	c.4133T>C	c.(4132-4134)gTt>gCt	p.V1378A		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1378					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTTTGGCAGTTGGATACCAG	0.458													103	136					0	0	0	0	C	183526931	T	C	183526931	3	2	381	1	0	0	0	0	1	0	0	0	17568	1725	60	5	4247	5	YEATS2	3	183526931	Missense_Mutation	SNP	T	TCGA-D6-A6ES-01A-12D-A31L-08	47603	183526931	14495499	58	73004											
WHSC1	7468	broad.mit.edu	37	chr4	1902732	1902732	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccctaacactacccctatCaaaaatggctctccagaaat	14	8	3	16	0	2	1	1	0	1	1	3	1	2	1	5	1	2	1	5	1	6	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:1902732C>T	ENST00000503128.1	+	2	558	c.351C>T	c.(349-351)atC>atT	p.I117I	WHSC1_ENST00000382892.2_Silent_p.I117I|WHSC1_ENST00000436793.1_Silent_p.I117I|WHSC1_ENST00000420906.2_Silent_p.I117I|WHSC1_ENST00000398261.1_Silent_p.I117I|WHSC1_ENST00000508803.1_Silent_p.I117I|WHSC1_ENST00000382895.3_Silent_p.I117I|WHSC1_ENST00000514045.1_Silent_p.I117I|WHSC1_ENST00000382891.5_Silent_p.I117I			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	117					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTACCCCTATCAAAAATGGCT	0.473			T	IGH@	MM								20	49					0	0	0	0	T	1902732	C	T	1902732	2	4	381	1	0	0	0	0	0	0	0	1	17458	816	29	2		2	WHSC1	4	1902732	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		1902732	189251544	59	73005											
ADRA2C	152	broad.mit.edu	37	chr4	3768691	3768691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcctactggtacttcGggcaggtgtggtgcggcgtg	4	11	17	9	3	1	0	1	0	0	0	2	0	1	0	1	6	3	2	1	6	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:3768691G>C	ENST00000330055.5	+	1	567	c.358G>C	c.(358-360)Ggg>Cgg	p.G120R	ADRA2C_ENST00000509482.1_Missense_Mutation_p.G120R	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	120					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGGTACTTCGGGCAGGTGTG	0.622													14	26					0	0	0	0	C	3768691	G	C	3768691	3	2	381	1	0	0	0	0	1	0	0	0	339	1116	39	3	360	3	ADRA2C	4	3768691	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1865959	3768691	187385585	60	73006											
ENOPH1	58478	broad.mit.edu	37	chr4	83369157	83369157	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgccagcaggatgtcAgtcttttgaggaaacaggtt	11	10	14	6	0	2	1	1	1	1	0	2	4	2	4	1	4	3	2	1	4	1	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:83369157A>C	ENST00000273920.3	+	2	437	c.169A>C	c.(169-171)Agt>Cgt	p.S57R	ENOPH1_ENST00000509635.1_5'UTR	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	57					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GCAGGATGTCAGTCTTTTGAG	0.398													23	22					0	0	0	0	C	83369157	A	C	83369157	3	2	381	1	0	0	0	0	1	0	0	0	5162	188	7	5	175	5	ENOPH1	4	83369157	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	79600466	83369157	107785119	61	73007											
WDFY3	23001	broad.mit.edu	37	chr4	85654725	85654725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcactcgatctgacacCactcttctgtcacgtacttc	7	12	6	16	3	4	1	1	1	3	0	7	2	4	1	1	0	1	3	1	0	1	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:85654725C>A	ENST00000322366.6	-	44	7438	c.7031G>T	c.(7030-7032)tGg>tTg	p.W2344L	WDFY3_ENST00000295888.4_Missense_Mutation_p.W2344L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2344						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATCTGACACCACTCTTCTGT	0.562													43	97					4.64027e-19	5.03478e-19	1	0	A	85654725	C	A	85654725	3	1	381	1	0	0	0	0	1	0	0	0	17366	595	21	4	3649	4	WDFY3	4	85654725	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	2285568	85654725	105499551	62	73008											
HADH	3033	broad.mit.edu	37	chr4	108954379	108954379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatgaaattaggagccGgttaccccatgggcccattt	9	11	10	11	1	0	1	0	1	0	0	0	2	0	2	4	3	3	2	4	3	4	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:108954379G>T	ENST00000505878.1	+	8	1042	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	HADH_ENST00000510728.1_3'UTR|HADH_ENST00000309522.3_Missense_Mutation_p.G253C|HADH_ENST00000454409.2_Missense_Mutation_p.G257C|HADH_ENST00000403312.1_Missense_Mutation_p.G329C|HADH_ENST00000603302.1_Missense_Mutation_p.G270C			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	253					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	ATTAGGAGCCGGTTACCCCAT	0.453													29	46					4.59853e-10	4.77677e-10	1	0	T	108954379	G	T	108954379	3	4	381	1	0	0	0	0	1	0	0	0	6992	1116	39	3	838	3	HADH	4	108954379	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	23299654	108954379	82199897	63	73009											
KIAA1109	84162	broad.mit.edu	37	chr4	123117890	123117890	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagatccttgcttttgaaTtacgaatgaatattattgca	13	15	7	6	1	0	3	0	2	0	1	1	5	1	3	1	0	3	2	1	0	6	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:123117890T>A	ENST00000264501.4	+	12	1526	c.1153T>A	c.(1153-1155)Tta>Ata	p.L385I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L385I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L385I			Q2LD37	K1109_HUMAN	KIAA1109	385					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCTTTTGAATTACGAATGAA	0.303													23	54					0	0	0	0	A	123117890	T	A	123117890	3	1	381	1	0	0	0	0	1	0	0	0	8259	1490	52	5	1191	5	KIAA1109	4	123117890	Missense_Mutation	SNP	T	TCGA-D6-A6ES-01A-12D-A31L-08	14163511	123117890	68036386	64	73010											
NSUN2	54888	broad.mit.edu	37	chr5	6620227	6620227	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagataaatacctgcaaggGacatcacataaaattcgatc	18	9	6	8	1	1	1	1	0	0	1	3	3	1	2	1	1	2	1	1	1	7	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:6620227G>T	ENST00000264670.6	-	7	1118	c.807C>A	c.(805-807)gtC>gtA	p.V269V	NSUN2_ENST00000539938.1_Silent_p.V33V|NSUN2_ENST00000506139.1_Silent_p.V234V	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	269						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGCAAGGGACATCACATA	0.408													18	57					0.000566183	0.00057044	1	0	T	6620227	G	T	6620227	2	4	381	1	0	0	0	0	0	0	0	1	10749	1161	41	2		2	NSUN2	5	6620227	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		6620227	174295033	65	73011											
TRIO	7204	broad.mit.edu	37	chr5	14480078	14480078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctcacagatctgttgatCaaaccagtgcagagaatcat	14	9	8	10	0	4	3	3	1	1	2	4	4	4	3	1	0	3	3	1	0	2	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:14480078C>G	ENST00000344204.4	+	43	6318	c.6294C>G	c.(6292-6294)atC>atG	p.I2098M	TRIO_ENST00000537187.1_Missense_Mutation_p.I2098M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2098	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATCTGTTGATCAAACCAGTGC	0.453													22	25					0	0	0	0	G	14480078	C	G	14480078	3	3	381	1	0	0	0	0	1	0	0	0	16647	816	29	2	6464	2	TRIO	5	14480078	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	7859851	14480078	166435182	66	73012											
PCDHA9	9752	broad.mit.edu	37	chr5	140229785	140229785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccggcgctgctgacacctCggatgaggggcactgacggc	6	5	16	14	5	0	3	0	3	0	0	1	4	0	4	2	5	1	3	2	5	0	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:140229785C>T	ENST00000378122.3	+	1	2429	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R569W|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACACCTCGGATGAGGGG	0.711													63	105					0	0	0	0	T	140229785	C	T	140229785	3	4	381	1	0	0	0	0	1	0	0	0	11602	875	31	1	1707	1	PCDHA9	5	140229785	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	125749707	140229785	40685475	67	73013											
PCDHB8	56128	broad.mit.edu	37	chr5	140558387	140558387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatctctgaggacagtccaAtaagcttcctggttgtgaag	11	11	11	8	0	1	3	0	2	1	1	4	4	3	4	2	2	1	2	2	2	3	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:140558387A>G	ENST00000239444.2	+	1	1017	c.772A>G	c.(772-774)Ata>Gta	p.I258V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		258	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAGTCCAATAAGCTTCCT	0.458													59	478					0	0	0	0	G	140558387	A	G	140558387	3	3	381	1	0	0	0	0	1	0	0	0	11619	101	4	5	774	5	PCDHB8	5	140558387	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	328602	140558387	40356873	68	73014											
TCERG1	10915	broad.mit.edu	37	chr5	145850294	145850294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatcctaaagaagagcctAtaaaggagataaaggaggta	19	6	12	4	0	0	3	0	0	0	3	1	6	1	5	2	4	1	1	2	4	9	5	rs143498728	byFrequency	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:145850294A>G	ENST00000296702.5	+	8	1533	c.1495A>G	c.(1495-1497)Ata>Gta	p.I499V	TCERG1_ENST00000394421.2_Missense_Mutation_p.I478V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	499	Glu-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGAGCCTATAAAGGAGAT	0.418													18	29					0	0	0	0	G	145850294	A	G	145850294	3	3	381	1	0	0	0	0	1	0	0	0	15779	449	16	5	1525	5	TCERG1	5	145850294	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	5291907	145850294	35064966	69	73015											
SLC36A3	285641	broad.mit.edu	37	chr5	150678169	150678169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccaacaagccggcattCtttatggccaggggaagccc	10	8	10	13	1	1	0	0	0	1	0	1	1	1	1	4	4	4	1	4	4	5	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:150678169C>G	ENST00000335230.3	-	2	615	c.204G>C	c.(202-204)aaG>aaC	p.K68N	SLC36A3_ENST00000377713.3_Missense_Mutation_p.K68N	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	68						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCGGCATTCTTTATGGCCA	0.512													15	35					0	0	0	0	G	150678169	C	G	150678169	3	3	381	1	0	0	0	0	1	0	0	0	14683	912	32	2	1371	2	SLC36A3	5	150678169	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	4827875	150678169	30237091	70	73016											
C5orf58	133874	broad.mit.edu	37	chr5	169672989	169672989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcccagttattgctttgtGaccttatcctacattttaat	8	19	4	10	0	1	1	0	1	1	0	3	1	2	1	3	0	2	2	3	0	4	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:169672989G>C	ENST00000521850.1	+	3	1870	c.181G>C	c.(181-183)Gac>Cac	p.D61H	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.D61H			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	61										large_intestine(1)|lung(4)|urinary_tract(1)	6						ATTGCTTTGTGACCTTATCCT	0.343													25	71					0	0	0	0	C	169672989	G	C	169672989	3	2	381	1	0	0	0	0	1	0	0	0	2334	1290	45	2	191	2	C5orf58	5	169672989	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	18994820	169672989	11242271	71	73017											
DUSP22	56940	broad.mit.edu	37	chr6	348917	348917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttttccggcactggctcCgctgacctacgataattata	9	12	8	12	3	0	1	0	1	0	0	2	2	2	1	3	2	1	4	3	2	4	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:348917C>G	ENST00000604971.1	+	4	1388	c.275C>G	c.(274-276)cCg>cGg	p.P92R	DUSP22_ENST00000603453.1_Missense_Mutation_p.P92R|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000419235.2_Missense_Mutation_p.P195R|DUSP22_ENST00000605315.1_Missense_Mutation_p.P92R			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCACTGGCTCCGCTGACCTAC	0.592													6	26					0	0	0	0	G	348917	C	G	348917	3	3	381	1	0	0	0	0	1	0	0	0	4857	667	23	3		3	DUSP22	6	348917	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		348917	170766150	72	73018											
TFAP2A	7020	broad.mit.edu	37	chr6	10398657	10398657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggaggagagcctcactttCtgtgcttctcctctttgtca	5	14	10	12	1	5	1	2	0	3	1	6	3	5	2	2	2	2	1	2	2	0	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:10398657C>T	ENST00000379613.3	-	7	1569	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	TFAP2A_ENST00000379604.2_Missense_Mutation_p.R436K|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R430K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R432K|TFAP2A_ENST00000482890.1_Missense_Mutation_p.R436K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	436					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCTCACTTTCTGTGCTTCTC	0.637													130	203					0	0	0	0	T	10398657	C	T	10398657	3	4	381	1	0	0	0	0	1	0	0	0	15881	913	32	2	10	2	TFAP2A	6	10398657	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	10049740	10398657	160716410	73	73019											
E2F3	1871	broad.mit.edu	37	chr6	20490622	20490623	+	Frame_Shift_Ins	INS	-	-	C																															tcttcgatgcttacgatttgINSgaaaagctcccactggtgga																										TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:20490622_20490623insC	ENST00000346618.3	+	7	1425_1426	c.1359_1360insC	c.(1357-1362)ttaaaafs	p.L453fs	E2F3_ENST00000535432.1_Frame_Shift_Ins_p.L322fs	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	453	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTTACGATTTGGAAAAGCTCCC	0.465													45	121	---	---	---	---					C	20490623	-	C	20490622	7	5	381	1	0	1	1	0	0	0	0	0	4904	1339	47	0	1385	0	E2F3	6	20490622	Frame_Shift_Ins	INS	-	TCGA-D6-A6ES-01A-12D-A31L-08	10091965	20490622	150624445	74	73020											
SCGN	10590	broad.mit.edu	37	chr6	25653629	25653629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaaggttacatagaagaGaaggaactcgatgctttctt	16	10	10	5	1	1	2	0	0	1	2	2	6	1	3	0	2	3	2	0	2	7	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:25653629G>C	ENST00000377961.2	+	2	270	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	34	EF-hand 1.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACATAGAAGAGAAGGAACTCG	0.299													11	22					0	0	0	0	C	25653629	G	C	25653629	3	2	381	1	0	0	0	0	1	0	0	0	13990	933	33	2	108	2	SCGN	6	25653629	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	5163007	25653629	145461438	75	73021											
APOM	55937	broad.mit.edu	37	chr6	31625865	31625865	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgagctgtccaataactGacctgtaacttcatctaagt	11	13	7	10	0	2	2	1	2	1	0	3	2	3	2	2	0	3	2	2	0	4	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:31625865G>C	ENST00000375916.3	+	6	1062	c.566G>C	c.(565-567)tGa>tCa	p.*189S	APOM_ENST00000375920.4_Nonstop_Mutation_p.*117S	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	0					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TCCAATAACTGACCTGTAACT	0.502													13	55					0	0	0	0	C	31625865	G	C	31625865	4	2	381	1	0	0	0	0	0	0	0	0	814	1285	45	2	588	2	APOM	6	31625865	Nonstop_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	5972236	31625865	139489202	76	73022											
ZBTB12	221527	broad.mit.edu	37	chr6	31868084	31868084	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgggcacttggtgcacttGatgttctttaaggggtttcc	5	15	12	9	1	1	1	0	1	1	0	3	1	3	1	2	4	1	4	2	4	1	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:31868084G>C	ENST00000375527.2	-	2	1174	c.999C>G	c.(997-999)atC>atG	p.I333M	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TGGTGCACTTGATGTTCTTTA	0.667													15	50					0	0	0	0	C	31868084	G	C	31868084	3	2	381	1	0	0	0	0	1	0	0	0	17620	1280	45	2	384	2	ZBTB12	6	31868084	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	242219	31868084	139246983	77	73023											
SPDEF	25803	broad.mit.edu	37	chr6	34512084	34512084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacaggccctgctcgggcGtggcgggtggactgggactc	4	6	19	12	4	0	0	0	0	0	0	2	3	0	3	1	7	1	1	1	7	0	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:34512084G>A	ENST00000374037.3	-	2	563	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SPDEF_ENST00000544425.1_Missense_Mutation_p.T50M	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	50					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTGCTCGGGCGTGGCGGGTGG	0.687													24	58					0	0	0	0	A	34512084	G	A	34512084	3	1	381	1	0	0	0	0	1	0	0	0	15116	1145	40	1	878	1	SPDEF	6	34512084	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	2644000	34512084	136602983	78	73024											
CD109	135228	broad.mit.edu	37	chr6	74524817	74524817	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaaaataaagatgatctCaatcatgtggatttgaatgt	18	12	8	3	0	2	4	2	2	1	2	3	5	2	5	0	1	0	0	0	1	7	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:74524817C>G	ENST00000437994.2	+	30	4262	c.3831C>G	c.(3829-3831)ctC>ctG	p.L1277L	CD109_ENST00000287097.5_Silent_p.L1294L|CD109_ENST00000422508.2_Silent_p.L1217L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1294						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATGATCTCAATCATGTGG	0.328													18	16					0	0	0	0	G	74524817	C	G	74524817	2	3	381	1	0	0	0	0	0	0	0	1	2992	813	29	2		2	CD109	6	74524817	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	40012733	74524817	96590250	79	73025											
RNGTT	8732	broad.mit.edu	37	chr6	89388087	89388087	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccttgatttgtgcaaaGggtctttcataacctccaac	11	13	6	11	0	2	1	1	1	1	0	3	1	3	1	3	1	4	1	3	1	4	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:89388087G>A	ENST00000369485.4	-	14	1677	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P	RNGTT_ENST00000265607.6_Silent_p.P474P|RNGTT_ENST00000538899.1_Silent_p.P414P|RNGTT_ENST00000369475.3_Silent_p.P497P	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	497	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTTGTGCAAAGGGTCTTTCAT	0.318													14	26					0	0	0	0	A	89388087	G	A	89388087	2	1	381	1	0	0	0	0	0	0	0	1	13588	987	35	4		4	RNGTT	6	89388087	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	14863270	89388087	81726980	80	73026											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578437	90578437	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcatgtgaagtaaaaaaaGatgagttaaaatcagagcca	19	9	9	4	0	2	4	2	2	0	2	2	4	2	4	1	0	1	3	1	0	7	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:90578437G>C	ENST00000551025.1	+	0	6865							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTAAAAAAAGATGAGTTAAA	0.378													12	31					0	0	0	0	C	90578437	G	C	90578437	1	2	381	0	1	0	0	0	0	0	0	0	2703	942	33	2		2	CASP8AP2	6	90578437	RNA	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1190350	90578437	80536630	81	73027											
EPHA7	2045	broad.mit.edu	37	chr6	94120820	94120820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgttttggttgggctcCatgacttggcacacctggta	6	14	12	9	0	0	1	0	1	0	0	1	1	1	1	2	4	0	6	2	4	1	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:94120820C>A	ENST00000369303.4	-	3	415	c.231G>T	c.(229-231)atG>atT	p.M77I	EPHA7_ENST00000369297.1_Missense_Mutation_p.M77I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	77						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGTTGGGCTCCATGACTTGGC	0.413													31	61					6.00712e-18	6.49157e-18	1	0	A	94120820	C	A	94120820	3	1	381	1	0	0	0	0	1	0	0	0	5210	594	21	4	2825	4	EPHA7	6	94120820	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	3542383	94120820	76994247	82	73028											
SIM1	6492	broad.mit.edu	37	chr6	100898172	100898172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaagtggactgaggctgTctctgagatgtacatgatct	10	11	11	9	0	2	3	0	3	2	1	3	5	2	4	1	2	1	2	1	2	2	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:100898172T>C	ENST00000369208.3	-	4	1101	c.319A>G	c.(319-321)Aca>Gca	p.T107A	SIM1_ENST00000262901.4_Missense_Mutation_p.T107A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	107	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACTGAGGCTGTCTCTGAGATG	0.547													67	131					0	0	0	0	C	100898172	T	C	100898172	3	2	381	1	0	0	0	0	1	0	0	0	14411	1667	58	5	2017	5	SIM1	6	100898172	Missense_Mutation	SNP	T	TCGA-D6-A6ES-01A-12D-A31L-08	6777352	100898172	70216895	83	73029											
PHACTR2	9749	broad.mit.edu	37	chr6	144086551	144086551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaagagaaaaactgacaAgcagccaataacttctcacc	17	5	8	11	0	1	2	1	1	1	1	2	3	1	2	2	1	4	2	2	1	6	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:144086551A>G	ENST00000427704.2	+	6	945	c.815A>G	c.(814-816)aAg>aGg	p.K272R	PHACTR2_ENST00000305766.6_Missense_Mutation_p.K192R|PHACTR2_ENST00000367582.3_Missense_Mutation_p.K203R|PHACTR2_ENST00000440869.2_Missense_Mutation_p.K283R|PHACTR2_ENST00000367584.4_Missense_Mutation_p.K260R	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	272							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AAAACTGACAAGCAGCCAATA	0.502													12	96					0	0	0	0	G	144086551	A	G	144086551	3	3	381	1	0	0	0	0	1	0	0	0	11882	72	3	5	887	5	PHACTR2	6	144086551	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	43188379	144086551	27028516	84	73030											
COX19	90639	broad.mit.edu	37	chr7	1015140	1015140	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcccgaaattcatggcggtCgacatgttggcgactccgga	8	9	13	11	5	1	0	1	0	0	0	4	4	3	1	2	4	0	1	2	4	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:1015140C>G	ENST00000344111.3	-	1	95	c.6G>C	c.(4-6)tcG>tcC	p.S2S		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	2						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TCATGGCGGTCGACATGTTGG	0.706													12	26					0	0	0	0	G	1015140	C	G	1015140	2	3	381	1	0	0	0	0	0	0	0	1	3798	871	31	3		3	COX19	7	1015140	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		1015140	158123523	85	73031											
DNAH11	8701	broad.mit.edu	37	chr7	21639551	21639551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaatacagagaaacaattGaaaccggcaccgttttttca	17	9	7	8	2	1	3	1	1	0	2	1	4	1	3	2	1	3	2	2	1	6	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:21639551G>C	ENST00000328843.6	+	15	2845	c.2814G>C	c.(2812-2814)ttG>ttC	p.L938F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L938F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	938	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAACAATTGAAACCGGCAC	0.403									Kartagener syndrome				4	40					0	0	0	0	C	21639551	G	C	21639551	3	2	381	1	0	0	0	0	1	0	0	0	4636	1281	45	2	2872	2	DNAH11	7	21639551	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	20624411	21639551	137499112	86	73032											
NFE2L3	9603	broad.mit.edu	37	chr7	26224617	26224617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaataatacctctgtcatCaagtctaattcctctcactc	12	13	2	14	0	5	0	3	0	3	0	8	0	6	0	2	0	1	0	2	0	5	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:26224617C>G	ENST00000056233.3	+	4	1558	c.1299C>G	c.(1297-1299)atC>atG	p.I433M		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	433					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCTCTGTCATCAAGTCTAATT	0.398													46	70					0	0	0	0	G	26224617	C	G	26224617	3	3	381	1	0	0	0	0	1	0	0	0	10439	816	29	2	1313	2	NFE2L3	7	26224617	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	4585066	26224617	132914046	87	73033											
TAX1BP1	8887	broad.mit.edu	37	chr7	27825078	27825078	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacttgaatgtcagttgaaGacagagaaggatgaaaagga	18	7	12	4	0	1	5	1	3	0	2	1	8	1	7	0	2	1	1	0	2	6	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:27825078G>C	ENST00000396319.2	+	7	910	c.822G>C	c.(820-822)aaG>aaC	p.K274N	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.K274N|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.K117N|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.K274N|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.K274N	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	274					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTCAGTTGAAGACAGAGAAGG	0.323													36	57					0	0	0	0	C	27825078	G	C	27825078	3	2	381	1	0	0	0	0	1	0	0	0	15685	933	33	2	844	2	TAX1BP1	7	27825078	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1600461	27825078	131313585	88	73034											
ASB4	51666	broad.mit.edu	37	chr7	95157168	95157168	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaccaagatgaggagacGcccttgcacacggctgccca	13	4	10	14	2	0	3	0	1	0	2	0	4	0	3	3	2	4	2	3	2	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:95157168G>A	ENST00000325885.5	+	3	602	c.531G>A	c.(529-531)acG>acA	p.T177T	ASB4_ENST00000428113.1_Silent_p.T177T	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	177					intracellular signal transduction			p.T177T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGAGGAGACGCCCTTGCACA	0.498											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	0	0	A	95157168	G	A	95157168	2	1	381	1	0	0	0	0	0	0	0	1	1029	1074	38	1		1	ASB4	7	95157168	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	67332090	95157168	63981495	89	73035											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654633	99654633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctggagtttacatgAtgaccaaggtactaggcatg	10	13	11	7	0	1	2	0	2	1	0	1	3	1	3	1	3	2	4	1	3	4	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:99654633A>G	ENST00000292450.4	+	2	168	c.4A>G	c.(4-6)Atg>Gtg	p.M2V	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.M2V|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.M2V|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	2					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTTTACATGATGACCAAGGT	0.517													88	221					0	0	0	0	G	99654633	A	G	99654633	3	3	381	1	0	0	0	0	1	0	0	0	18325	333	12	5	6	5	ZSCAN21	7	99654633	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	4497465	99654633	59484030	90	73036											
KCND2	3751	broad.mit.edu	37	chr7	119915022	119915022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcctcgccacgagtgcatCtctgcttacgatgaagaact	10	11	8	12	3	1	2	0	1	1	1	4	4	2	2	2	0	4	2	2	0	4	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:119915022C>T	ENST00000331113.4	+	1	1301	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	112					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACGAGTGCATCTCTGCTTACG	0.527													72	152					0	0	0	0	T	119915022	C	T	119915022	2	4	381	1	0	0	0	0	0	0	0	1	8072	903	32	2		2	KCND2	7	119915022	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	20260389	119915022	39223641	91	73037											
EXOC4	60412	broad.mit.edu	37	chr7	133682384	133682384	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtcttacatctggaagtGaggtatgatacagccaagcc	11	11	10	9	0	2	2	0	2	2	0	2	3	2	3	2	2	4	1	2	2	5	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:133682384G>C	ENST00000253861.4	+	15	2375	c.2346G>C	c.(2344-2346)gtG>gtC	p.V782V	EXOC4_ENST00000545148.1_Silent_p.V392V|EXOC4_ENST00000539845.1_Silent_p.V681V|EXOC4_ENST00000541309.1_Silent_p.V70V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	782					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCTGGAAGTGAGGTATGATA	0.478													8	19					0	0	0	0	C	133682384	G	C	133682384	2	2	381	1	0	0	0	0	0	0	0	1	5343	1277	45	2		2	EXOC4	7	133682384	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	13767362	133682384	25456279	92	73038											
ZNF786	136051	broad.mit.edu	37	chr7	148768226	148768226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcaggatgcccttcaggcgGaagcgcttgtcgcacttcag	7	10	12	12	3	3	0	3	0	0	0	4	2	3	2	1	3	2	2	1	3	1	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:148768226G>A	ENST00000316286.9	-	3	1652	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	ZNF786_ENST00000451334.3_Silent_p.F509F|ZNF786_ENST00000491431.1_Silent_p.F546F			Q8N393	ZN786_HUMAN	zinc finger protein 786	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTTCAGGCGGAAGCGCTTGT	0.627													19	19					0	0	0	0	A	148768226	G	A	148768226	2	1	381	1	0	0	0	0	0	0	0	1	18251	1165	41	2		2	ZNF786	7	148768226	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	15085842	148768226	10370437	93	73039											
ZNF786	136051	broad.mit.edu	37	chr7	148769033	148769033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggatgggtcagctcgtgtcgGaagcacatttcaccgtcagc	8	9	13	11	3	3	0	3	0	0	0	5	2	3	2	1	3	3	2	1	3	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:148769033G>A	ENST00000316286.9	-	3	845	c.573C>T	c.(571-573)ttC>ttT	p.F191F	ZNF786_ENST00000451334.3_Silent_p.F240F|ZNF786_ENST00000491431.1_Silent_p.F277F			Q8N393	ZN786_HUMAN	zinc finger protein 786	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTCGTGTCGGAAGCACATTT	0.677													19	30					0	0	0	0	A	148769033	G	A	148769033	2	1	381	1	0	0	0	0	0	0	0	1	18251	1165	41	2		2	ZNF786	7	148769033	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	807	148769033	10369630	94	73040											
XPO7	23039	broad.mit.edu	37	chr8	21843138	21843138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattattggagcagtgatcGgtggccgggtttcttttgcc	6	14	13	8	2	1	1	0	1	1	0	2	2	1	2	2	4	2	2	2	4	1	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:21843138G>A	ENST00000434536.1	+	13	1642	c.1540G>A	c.(1540-1542)Ggt>Agt	p.G514S	XPO7_ENST00000252512.9_Missense_Mutation_p.G505S|XPO7_ENST00000433566.4_Missense_Mutation_p.G506S			Q9UIA9	XPO7_HUMAN	exportin 7	505					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCAGTGATCGGTGGCCGGGT	0.527													56	55					0	0	0	0	A	21843138	G	A	21843138	3	1	381	1	0	0	0	0	1	0	0	0	17545	1116	39	1	1615	1	XPO7	8	21843138	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		21843138	124520884	95	73041											
CHMP7	91782	broad.mit.edu	37	chr8	23114104	23114104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttatcccaggaagcagaGaggtaacttttaaccctgaa	13	10	8	10	0	0	2	0	1	0	1	2	4	2	3	3	2	3	2	3	2	5	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:23114104G>A	ENST00000397677.1	+	5	1437	c.789G>A	c.(787-789)gaG>gaA	p.E263E	CHMP7_ENST00000313219.7_Silent_p.E263E	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	263					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGAAGCAGAGAGGTAACTTT	0.493													75	58					0	0	0	0	A	23114104	G	A	23114104	2	1	381	1	0	0	0	0	0	0	0	1	3390	933	33	2		2	CHMP7	8	23114104	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1270966	23114104	123249918	96	73042											
ASPH	444	broad.mit.edu	37	chr8	62416025	62416025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctgccatacctcgtgctCaaaggagtcatcaaagatga	13	9	8	11	1	3	2	3	1	0	1	5	3	4	3	3	1	3	1	3	1	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:62416025C>G	ENST00000541428.1	-	25	2243	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	ASPH_ENST00000379454.4_Missense_Mutation_p.E724Q	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	724					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ACCTCGTGCTCAAAGGAGTCA	0.512													14	40					0	0	0	0	G	62416025	C	G	62416025	3	3	381	1	0	0	0	0	1	0	0	0	1057	835	29	2	110	2	ASPH	8	62416025	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	39301921	62416025	83947997	97	73043											
SULF1	23213	broad.mit.edu	37	chr8	70488379	70488379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagaactgctcttccccctCgtggcaggccatgcatgagc	7	8	11	15	2	1	2	0	1	1	1	3	3	2	2	3	2	4	3	3	2	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:70488379C>T	ENST00000260128.4	+	6	1064	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SULF1_ENST00000458141.2_Missense_Mutation_p.S116L|SULF1_ENST00000402687.4_Missense_Mutation_p.S116L|SULF1_ENST00000419716.3_Missense_Mutation_p.S116L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	116					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCTTCCCCCTCGTGGCAGGCC	0.517													25	66					0	0	0	0	T	70488379	C	T	70488379	3	4	381	1	0	0	0	0	1	0	0	0	15460	893	31	1	353	1	SULF1	8	70488379	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	8072354	70488379	75875643	98	73044											
ZFHX4	79776	broad.mit.edu	37	chr8	77618444	77618444	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaggtttgtaactactcTaccactaccaaaggcaacct	12	11	7	11	0	1	1	0	1	1	0	1	1	1	1	3	2	5	3	3	2	6	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:77618444T>C	ENST00000521891.2	+	2	2569	c.2121T>C	c.(2119-2121)tcT>tcC	p.S707S	ZFHX4_ENST00000518282.1_Silent_p.S707S|ZFHX4_ENST00000050961.6_Silent_p.S707S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.S707S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	707						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTAACTACTCTACCACTACCA	0.488										HNSCC(33;0.089)			32	55					0	0	0	0	C	77618444	T	C	77618444	2	2	381	1	0	0	0	0	0	0	0	1	17730	1509	53	5		5	ZFHX4	8	77618444	Silent	SNP	T	TCGA-D6-A6ES-01A-12D-A31L-08	7130065	77618444	68745578	99	73045											
CSMD3	114788	broad.mit.edu	37	chr8	114389345	114389345	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaagggctgcggcgtcGtccggctctccggtcctcca	3	7	12	19	5	1	0	0	0	1	0	6	0	4	0	6	4	1	2	6	4	1	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:114389345G>A	ENST00000343508.3	-	0	37				CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCGGCGTCGTCCGGCTCTC	0.706										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	6					0	0	0	0	A	114389345	G	A	114389345	1	1	381	1	0	0	0	0	0	0	0	0	3978	1160	40	1		1	CSMD3	8	114389345	Translation_Start_Site	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	36770901	114389345	31974677	100	73046											
TG	7038	broad.mit.edu	37	chr8	133899063	133899063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttggtgaatgttggccaGtttaacttgtctggagccct	6	17	11	7	0	1	1	0	1	1	0	1	2	1	2	2	3	2	2	2	3	2	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:133899063G>A	ENST00000220616.4	+	9	1486	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	TG_ENST00000377869.1_Silent_p.Q482Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	482					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Q482H(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGTTGGCCAGTTTAACTTGT	0.478													47	140					0	0	0	0	A	133899063	G	A	133899063	2	1	381	1	0	0	0	0	0	0	0	1	15907	1020	36	4		4	TG	8	133899063	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	19509718	133899063	12464959	101	73047											
WISP1	8840	broad.mit.edu	37	chr8	134237784	134237784	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaagagagccgcctctgCaacttgcggccatgcgatgt	9	7	13	12	3	1	1	0	0	1	1	1	4	1	1	3	1	6	2	3	1	2	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:134237784C>A	ENST00000250160.6	+	4	868	c.762C>A	c.(760-762)tgC>tgA	p.C254*	WISP1_ENST00000220856.6_Nonsense_Mutation_p.C167*|WISP1_ENST00000377863.2_Nonsense_Mutation_p.C82*|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	254	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCCGCCTCTGCAACTTGCGGC	0.572													26	78					2.65835e-16	2.84975e-16	1	0	A	134237784	C	A	134237784	4	1	381	1	0	0	0	0	0	1	0	0	17468	718	25	4	776	4	WISP1	8	134237784	Nonsense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	338721	134237784	12126238	102	73048											
PLEC	5339	broad.mit.edu	37	chr8	144999083	144999083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgccgcgccgccgcgcctCgcgctccgcctcctccttct	0	9	9	23	8	1	0	0	0	1	0	5	0	4	0	8	0	1	1	8	0	0	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:144999083C>T	ENST00000322810.4	-	31	5594	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K	PLEC_ENST00000354958.2_Missense_Mutation_p.E1650K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1676K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1699K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1672K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1658K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1640K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1672K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1695K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1809	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGCGCCTCGCGCTCCGCC	0.726													7	23					0	0	0	0	T	144999083	C	T	144999083	3	4	381	1	0	0	0	0	1	0	0	0	12124	893	31	1	8637	1	PLEC	8	144999083	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	10761299	144999083	1364939	103	73049											
KANK1	23189	broad.mit.edu	37	chr9	738504	738504	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgctgttagatgccGgtatgttggctgcccttcca	6	13	12	10	1	0	2	0	1	0	1	1	2	1	2	3	2	4	6	3	2	3	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:738504G>A	ENST00000382303.1	+	12	4205	c.3553_splice	c.e12+1	p.D1185_splice	KANK1_ENST00000382293.3_Splice_Site_p.D1027_splice|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Splice_Site_p.D1185_splice	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1185					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTTAGATGCCGGTATGTTGGC	0.522													19	9					0	0	0	0	A	738504	G	A	738504	5	1	381	1	0	0	0	0	0	0	1	0	8029	1130	39	1	3579	1	KANK1	9	738504	Splice_Site	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		738504	140474927	104	73050											
FREM1	158326	broad.mit.edu	37	chr9	14784497	14784497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catattcgatctggccatatCgcggaggggaggtgatgaca	10	9	14	8	3	1	2	0	2	1	0	3	5	1	4	1	5	0	0	1	5	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:14784497C>T	ENST00000380881.4	-	25	5131	c.4316G>A	c.(4315-4317)cGa>cAa	p.R1439Q	FREM1_ENST00000422223.2_Missense_Mutation_p.R1438Q|FREM1_ENST00000380880.3_Missense_Mutation_p.R1438Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1438					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGGCCATATCGCGGAGGGGA	0.488													11	17					0	0	0	0	T	14784497	C	T	14784497	3	4	381	1	0	0	0	0	1	0	0	0	6092	884	31	1	2332	1	FREM1	9	14784497	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	14045993	14784497	126428934	105	73051											
CNTLN	54875	broad.mit.edu	37	chr9	17394894	17394894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatggccaccatgaaagtGagatctggacgatatgattg	13	9	13	6	1	1	4	0	3	1	2	1	8	1	5	2	2	0	0	2	2	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:17394894G>A	ENST00000380647.3	+	15	2526	c.2442G>A	c.(2440-2442)gtG>gtA	p.V814V	CNTLN_ENST00000262360.5_Silent_p.V814V|CNTLN_ENST00000425824.1_Silent_p.V814V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	814						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CCATGAAAGTGAGATCTGGAC	0.418													31	22					0	0	0	0	A	17394894	G	A	17394894	2	1	381	1	0	0	0	0	0	0	0	1	3669	1277	45	2		2	CNTLN	9	17394894	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	2610397	17394894	123818537	106	73052											
SLC28A3	64078	broad.mit.edu	37	chr9	86903088	86903088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttaacaagtgggaggaTggaacctgcaatttcagaag	13	9	13	6	0	1	1	1	0	0	1	1	4	1	4	1	3	3	3	1	3	5	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:86903088T>C	ENST00000376238.4	-	12	1204	c.1155A>G	c.(1153-1155)ccA>ccG	p.P385P	SLC28A3_ENST00000537648.1_Silent_p.P316P|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	385					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTGGGAGGATGGAACCTGCA	0.468													39	34					0	0	0	0	C	86903088	T	C	86903088	2	2	381	1	0	0	0	0	0	0	0	1	14621	1451	51	5		5	SLC28A3	9	86903088	Silent	SNP	T	TCGA-D6-A6ES-01A-12D-A31L-08	69508194	86903088	54310343	107	73053											
BICD2	23299	broad.mit.edu	37	chr9	95485020	95485020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagtcctgcagcagacgaGcttcccggaatttgtactcc	9	10	10	12	2	0	1	0	0	0	1	3	3	3	2	3	1	4	5	3	1	3	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:95485020G>A	ENST00000356884.6	-	3	591	c.524C>T	c.(523-525)gCt>gTt	p.A175V	BICD2_ENST00000375512.3_Missense_Mutation_p.A175V	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	175					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CAGCAGACGAGCTTCCCGGAA	0.557													18	33					0	0	0	0	A	95485020	G	A	95485020	3	1	381	1	0	0	0	0	1	0	0	0	1434	971	34	4	2073	4	BICD2	9	95485020	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	8581932	95485020	45728411	108	73054											
OR13D1	286365	broad.mit.edu	37	chr9	107457533	107457533	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctacctgttcagcgcactcGattgtggtcatcttattcta	7	16	7	11	2	5	0	2	0	3	0	6	1	5	0	1	1	2	2	1	1	3	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:107457533G>C	ENST00000318763.5	+	1	874	c.831G>C	c.(829-831)tcG>tcC	p.S277S		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	277			S -> L (in dbSNP:rs10761073).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CAGCGCACTCGATTGTGGTCA	0.388													36	72					0	0	0	0	C	107457533	G	C	107457533	2	2	381	1	0	0	0	0	0	0	0	1	11011	1045	37	3		3	OR13D1	9	107457533	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	11972513	107457533	33755898	109	73055											
C5	727	broad.mit.edu	37	chr9	123751969	123751969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggacaacgctcatcagctCcgcctctgcactccctttgg	6	10	9	16	2	3	0	2	0	1	0	5	1	5	1	3	2	3	3	3	2	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:123751969C>T	ENST00000223642.1	-	24	3060	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1011					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTCATCAGCTCCGCCTCTGCA	0.433													17	26					0	0	0	0	T	123751969	C	T	123751969	3	4	381	1	0	0	0	0	1	0	0	0	2301	864	30	2	2071	2	C5	9	123751969	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	16294436	123751969	17461462	110	73056											
DAB2IP	153090	broad.mit.edu	37	chr9	124535309	124535309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagaaccctgtgtaccaGatggcggctggcctgccgct	6	9	12	14	2	0	2	0	0	0	2	1	2	1	2	5	3	3	3	5	3	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:124535309G>C	ENST00000408936.3	+	12	2684	c.2502G>C	c.(2500-2502)caG>caC	p.Q834H	DAB2IP_ENST00000309989.1_Missense_Mutation_p.Q710H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.Q806H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	834					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGTGTACCAGATGGCGGCTG	0.692													19	41					0	0	0	0	C	124535309	G	C	124535309	3	2	381	1	0	0	0	0	1	0	0	0	4252	933	33	2	2464	2	DAB2IP	9	124535309	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	783340	124535309	16678122	111	73057											
DAB2IP	153090	broad.mit.edu	37	chr9	124535682	124535682	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggcgtcggcctcacctGattgggtgggccccagtacc	4	8	13	16	2	1	1	1	1	0	0	2	1	1	1	6	4	1	1	6	4	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:124535682G>C	ENST00000408936.3	+	12	3057	c.2875G>C	c.(2875-2877)Gat>Cat	p.D959H	DAB2IP_ENST00000309989.1_Missense_Mutation_p.D835H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.D931H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	959					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCCTCACCTGATTGGGTGGG	0.687													8	10					0	0	0	0	C	124535682	G	C	124535682	3	2	381	1	0	0	0	0	1	0	0	0	4252	1290	45	2	2837	2	DAB2IP	9	124535682	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	373	124535682	16677749	112	73058											
OR1K1	392392	broad.mit.edu	37	chr9	125562421	125562421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggaggctgccaatgagtCttcagagggaatctcattcg	10	10	12	9	1	3	2	2	1	2	1	5	4	3	4	1	3	1	1	1	3	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:125562421C>G	ENST00000277309.2	+	1	52	c.20C>G	c.(19-21)tCt>tGt	p.S7C		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCCAATGAGTCTTCAGAGGGA	0.522													14	22					0	0	0	0	G	125562421	C	G	125562421	3	3	381	1	0	0	0	0	1	0	0	0	11033	913	32	2	22	2	OR1K1	9	125562421	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	1026739	125562421	15651010	113	73059											
OBP2B	29989	broad.mit.edu	37	chr9	136083938	136083938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcctgggcctcctgtcctCcggaaagtccttatcgacca	6	11	8	16	2	0	0	0	0	0	0	6	2	5	1	7	2	0	0	7	2	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:136083938C>T	ENST00000372034.3	-	2	165	c.124G>A	c.(124-126)Gag>Aag	p.E42K	OBP2B_ENST00000461961.1_Intron|OBP2B_ENST00000372032.2_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	42					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CTCCTGTCCTCCGGAAAGTCC	0.607													14	14					0	0	0	0	T	136083938	C	T	136083938	3	4	381	1	0	0	0	0	1	0	0	0	10882	864	30	2	408	2	OBP2B	9	136083938	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	10521517	136083938	5129493	114	73060											
ABCA2	20	broad.mit.edu	37	chr9	139905086	139905086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaccttggtcaggttctCaatcttgaccatgtcattgt	7	14	8	12	0	4	1	3	1	2	0	5	1	4	1	3	2	0	1	3	2	1	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:139905086C>T	ENST00000265662.5	-	40	6307	c.6160G>A	c.(6160-6162)Gag>Aag	p.E2054K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E2054K|ABCA2_ENST00000371605.3_Missense_Mutation_p.E2053K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2053	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCAGGTTCTCAATCTTGACC	0.652													64	135					0	0	0	0	T	139905086	C	T	139905086	3	4	381	1	0	0	0	0	1	0	0	0	32	835	29	2	1190	2	ABCA2	9	139905086	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	3821148	139905086	1308345	115	73061											
EHMT1	79813	broad.mit.edu	37	chr9	140657182	140657182	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctccaggaagtgcctctCtgcagctgccggatggaaac	8	7	13	13	1	1	0	0	0	1	0	3	3	2	3	4	4	5	2	4	4	2	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:140657182C>G	ENST00000460843.1	+	10	1584	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.L488L|EHMT1_ENST00000462484.1_Silent_p.L519L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	519					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAGTGCCTCTCTGCAGCTGCC	0.557													24	28					0	0	0	0	G	140657182	C	G	140657182	2	3	381	1	0	0	0	0	0	0	0	1	5019	900	32	2		2	EHMT1	9	140657182	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	752096	140657182	556249	116	73062											
CACNA1B	774	broad.mit.edu	37	chr9	140970298	140970298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatattgccctggatgatGacaccagcatcaaccgccac	12	7	9	13	1	1	2	1	2	0	0	1	4	1	4	4	2	3	1	4	2	3	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:140970298G>T	ENST00000277549.5	+	35	5036	c.2467G>T	c.(2467-2469)Gac>Tac	p.D823Y	CACNA1B_ENST00000371355.4_Missense_Mutation_p.D1630Y|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D1628Y|CACNA1B_ENST00000371365.2_5'UTR|CACNA1B_ENST00000371372.1_Missense_Mutation_p.D1629Y|CACNA1B_ENST00000277551.2_Missense_Mutation_p.D1629Y|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D1627Y			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1629					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTGGATGATGACACCAGCAT	0.577													9	12					0.000673444	0.000673444	1	0	T	140970298	G	T	140970298	3	4	381	1	0	0	0	0	1	0	0	0	2564	1290	45	2	5019	2	CACNA1B	9	140970298	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	313116	140970298	243133	117	73063											
NUDT5	11164	broad.mit.edu	37	chr10	12209713	12209713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgggcttaaaatttcaaGaagggcacttcaaatggctt	13	13	9	6	0	2	1	2	0	0	1	2	1	2	1	0	3	0	3	0	3	5	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:12209713G>C	ENST00000491614.1	-	10	1043	c.648C>G	c.(646-648)ttC>ttG	p.F216L	NUDT5_ENST00000378937.3_Missense_Mutation_p.F229L|NUDT5_ENST00000378952.3_5'UTR|SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000537776.1_Missense_Mutation_p.F216L|SEC61A2_ENST00000495368.1_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	216					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				AAAATTTCAAGAAGGGCACTT	0.423													32	73					0	0	0	0	C	12209713	G	C	12209713	3	2	381	1	0	0	0	0	1	0	0	0	10813	933	33	2	15	2	NUDT5	10	12209713	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		12209713	123325034	118	73064											
CDNF	441549	broad.mit.edu	37	chr10	14867593	14867593	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaggatctttgtggctgcGtcttttgtggctcctagata	5	17	11	8	1	2	1	0	0	2	1	3	2	3	2	1	3	1	2	1	3	3	6	rs147677694		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:14867593G>A	ENST00000378442.1	-	0	467				CDNF_ENST00000378441.2_Intron			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						TTGTGGCTGCGTCTTTTGTGG	0.413													47	91					0	0	0	0	A	14867593	G	A	14867593	1	1	381	1	0	0	0	0	0	0	0	0	3197	1136	40	1		1	CDNF	10	14867593	Translation_Start_Site	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	2657880	14867593	120667154	119	73065											
CUBN	8029	broad.mit.edu	37	chr10	16882430	16882430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgatgcggaggggaatCaatgacccaagtacagatgg	12	7	14	8	1	1	3	1	2	0	1	1	5	1	5	1	4	3	2	1	4	4	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:16882430C>G	ENST00000377833.4	-	62	9996	c.9931G>C	c.(9931-9933)Gat>Cat	p.D3311H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3311	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGGGGAATCAATGACCCAA	0.473													13	38					0	0	0	0	G	16882430	C	G	16882430	3	3	381	1	0	0	0	0	1	0	0	0	4083	826	29	2	964	2	CUBN	10	16882430	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	2014837	16882430	118652317	120	73066											
CUBN	8029	broad.mit.edu	37	chr10	17113966	17113966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagtaaggtttcaccatctCgaacctaaagagaaaaataa	19	8	6	8	1	2	1	1	0	1	1	3	3	2	1	2	1	1	2	2	1	8	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:17113966C>T	ENST00000377833.4	-	18	2371	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	769	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCACCATCTCGAACCTAAAG	0.358													5	17					0	0	0	0	T	17113966	C	T	17113966	3	4	381	1	0	0	0	0	1	0	0	0	4083	884	31	1	8765	1	CUBN	10	17113966	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	231536	17113966	118420781	121	73067											
BMI1	648	broad.mit.edu	37	chr10	22618352	22618352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctcatccacagtttcctCacatttccagtactatgaat	10	14	3	14	0	2	1	2	1	0	0	6	1	6	1	4	0	1	2	4	0	3	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:22618352C>T	ENST00000376663.3	+	10	1367	c.862C>T	c.(862-864)Cac>Tac	p.H288Y	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.H431Y	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ACAGTTTCCTCACATTTCCAG	0.498													8	97					0	0	0	0	T	22618352	C	T	22618352	3	4	381	1	0	0	0	0	1	0	0	0	1460	826	29	2	896	2	BMI1	10	22618352	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	5504386	22618352	112916395	122	73068											
ZNF25	219749	broad.mit.edu	37	chr10	38242687	38242687	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaatgctccataggtcttCtacaagggaaccaaaaatgt	15	10	8	8	0	2	1	0	1	2	0	3	2	3	2	2	2	3	1	2	2	7	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:38242687C>T	ENST00000302609.7	-	5	451		c.e5-1		ZNF25_ENST00000374633.1_Splice_Site	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATAGGTCTTCTACAAGGGAA	0.328													11	21					0	0	0	0	T	38242687	C	T	38242687	5	4	381	1	0	0	0	0	0	0	1	0	17889	927	32	2	1140	2	ZNF25	10	38242687	Splice_Site	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	15624335	38242687	97292060	123	73069											
PTEN	5728	broad.mit.edu	37	chr10	89653781	89653781	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttaactaaagtactcaGatatttatccaaacattatt	15	16	2	8	0	1	1	1	0	0	1	3	1	3	1	2	0	3	1	2	0	8	9			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:89653781G>C	ENST00000371953.3	+	2	1436		c.e2-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(4)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGTACTCAGATATTTATCC	0.303		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			17	16					0	0	0	0	C	89653781	G	C	89653781	5	2	381	1	0	0	0	0	0	0	1	0	12817	956	33	2	85	2	PTEN	10	89653781	Splice_Site	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	51411094	89653781	45880966	124	73070											
PANK1	53354	broad.mit.edu	37	chr10	91371485	91371485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgaatttgaaagcccCgcctcctgtggcacagaggg	8	9	11	13	2	1	2	0	1	1	1	3	3	2	2	4	2	1	1	4	2	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:91371485C>T	ENST00000307534.4	-	2	1179	c.1024G>A	c.(1024-1026)Ggg>Agg	p.G342R	PANK1_ENST00000371774.2_Missense_Mutation_p.G144R|PANK1_ENST00000342512.3_Missense_Mutation_p.G117R|PANK1_ENST00000322191.6_Missense_Mutation_p.G117R	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	342					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTGAAAGCCCCGCCTCCTGTG	0.488													14	11					0	0	0	0	T	91371485	C	T	91371485	3	4	381	1	0	0	0	0	1	0	0	0	11487	652	23	1	796	1	PANK1	10	91371485	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	1717704	91371485	44163262	125	73071											
SORCS3	22986	broad.mit.edu	37	chr10	106602566	106602566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcatacttatcctgaCgaagctgtatgacttcaacc	11	11	8	11	1	2	2	2	2	0	0	3	3	3	2	2	1	3	3	2	1	5	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:106602566C>T	ENST00000369701.3	+	2	871	c.644C>T	c.(643-645)aCg>aTg	p.T215M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTATCCTGACGAAGCTGTAT	0.463													27	20					0	0	0	0	T	106602566	C	T	106602566	3	4	381	1	0	0	0	0	1	0	0	0	15020	536	19	1	650	1	SORCS3	10	106602566	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	15231081	106602566	28932181	126	73072											
SMPD1	6609	broad.mit.edu	37	chr11	6414491	6414491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccataccccggtctccgcctCatctctctcaatatgaattt	8	13	4	16	2	4	1	2	1	3	0	7	1	4	1	5	1	1	0	5	1	4	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:6414491C>T	ENST00000342245.4	+	3	1305	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000527275.1_Silent_p.L378L|SMPD1_ENST00000299397.3_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	377			S -> P (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTCTCCGCCTCATCTCTCTCA	0.512													14	15					0	0	0	0	T	6414491	C	T	6414491	2	4	381	1	0	0	0	0	0	0	0	1	14892	813	29	2		2	SMPD1	11	6414491	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		6414491	128592025	127	73073											
OR8H2	390151	broad.mit.edu	37	chr11	55872944	55872944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtccaaaaggctctgcctCgctctcatcactgggcctta	8	11	8	14	1	3	0	2	0	2	0	6	0	4	0	3	2	1	2	3	2	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:55872944C>T	ENST00000313503.1	+	1	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGCTCTGCCTCGCTCTCATCA	0.458										HNSCC(53;0.14)			65	127					0	0	0	0	T	55872944	C	T	55872944	2	4	381	1	0	0	0	0	0	0	0	1	11309	871	31	1		1	OR8H2	11	55872944	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	49458453	55872944	79133572	128	73074											
POLR2G	5436	broad.mit.edu	37	chr11	62529308	62529308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcacccgcgctacttCggccccaacttgctcaacac	7	8	7	19	3	1	0	1	0	0	0	2	0	1	0	3	1	6	4	3	1	3	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:62529308C>A	ENST00000301788.7	+	2	159	c.54C>A	c.(52-54)ttC>ttA	p.F18L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	18					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						CGCGCTACTTCGGCCCCAACT	0.607													101	215					9.04842e-37	1.00206e-36	1	0	A	62529308	C	A	62529308	3	1	381	1	0	0	0	0	1	0	0	0	12292	883	31	3	60	3	POLR2G	11	62529308	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	6656364	62529308	72477208	129	73075											
UCP2	7351	broad.mit.edu	37	chr11	73688981	73688981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaatcatacaggccgatgCggacagaggcaaagctcatt	14	6	11	10	2	2	2	2	0	0	2	2	4	2	3	1	3	3	2	1	3	3	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:73688981C>T	ENST00000310473.3	-	4	1129	c.287G>A	c.(286-288)cGc>cAc	p.R96H	UCP2_ENST00000536983.1_Missense_Mutation_p.R96H	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	96					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CAGGCCGATGCGGACAGAGGC	0.562													41	35					0	0	0	0	T	73688981	C	T	73688981	3	4	381	1	0	0	0	0	1	0	0	0	17027	768	27	1	662	1	UCP2	11	73688981	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	11159673	73688981	61317535	130	73076											
ENDOD1	23052	broad.mit.edu	37	chr11	94862036	94862036	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttaaccctcagctgtttCagaacaactgtggtgaaact	12	12	7	10	0	2	2	2	1	0	1	2	2	2	2	1	1	5	2	1	1	4	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:94862036C>G	ENST00000278505.4	+	2	914	c.796C>G	c.(796-798)Cag>Gag	p.Q266E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	266						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCAGCTGTTTCAGAACAACTG	0.428													27	26					0	0	0	0	G	94862036	C	G	94862036	3	3	381	1	0	0	0	0	1	0	0	0	5152	827	29	2	802	2	ENDOD1	11	94862036	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	21173055	94862036	40144480	131	73077											
HINFP	25988	broad.mit.edu	37	chr11	119003248	119003248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccaagagatttgccaCagagcggctattgcgggacc	9	9	12	11	2	0	2	0	0	0	2	1	4	1	3	3	2	3	2	3	2	2	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:119003248C>T	ENST00000350777.2	+	6	782	c.719C>T	c.(718-720)aCa>aTa	p.T240I	HINFP_ENST00000527410.1_Missense_Mutation_p.T240I	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	240					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGATTTGCCACAGAGCGGCTA	0.577													30	25					0	0	0	0	T	119003248	C	T	119003248	3	4	381	1	0	0	0	0	1	0	0	0	7160	478	17	4	737	4	HINFP	11	119003248	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	24141212	119003248	16003268	132	73078											
VSIG2	23584	broad.mit.edu	37	chr11	124618415	124618415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatcagagctccggccactCggccttgggagggttctaag	8	8	13	12	2	2	1	1	0	1	1	4	2	3	2	3	4	1	2	3	4	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:124618415C>T	ENST00000403470.1	-	6	777	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	VSIG2_ENST00000326621.5_Missense_Mutation_p.R241Q			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	241						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCGGCCACTCGGCCTTGGGA	0.607													33	25					0	0	0	0	T	124618415	C	T	124618415	3	4	381	1	0	0	0	0	1	0	0	0	17320	884	31	1	269	1	VSIG2	11	124618415	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	5615167	124618415	10388101	133	73079											
FBXL14	144699	broad.mit.edu	37	chr12	1702312	1702312	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcagagggagagagacttGaggccatccagcccctgggc	10	4	16	11	0	0	4	0	1	0	3	1	7	1	4	4	3	2	1	4	3	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:1702312G>C	ENST00000339235.3	-	1	1019	c.921C>G	c.(919-921)ctC>ctG	p.L307L	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	307						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			AGAGAGACTTGAGGCCATCCA	0.602													4	105					0	0	0	0	C	1702312	G	C	1702312	2	2	381	1	0	0	0	0	0	0	0	1	5755	1277	45	2		2	FBXL14	12	1702312	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		1702312	132149583	134	73080											
FOXM1	2305	broad.mit.edu	37	chr12	2983384	2983384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcagtcagtgctgtgatGatgctgtgaatattagcatt	9	15	12	5	0	1	3	1	3	0	0	1	3	1	3	0	1	3	4	0	1	3	4	rs11548398		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:2983384G>A	ENST00000342628.2	-	2	374	c.261C>T	c.(259-261)atC>atT	p.I87I	FOXM1_ENST00000359843.3_Silent_p.I87I|FOXM1_ENST00000361953.3_Silent_p.I87I	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	87					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GTGCTGTGATGATGCTGTGAA	0.517													40	80					0	0	0	0	A	2983384	G	A	2983384	2	1	381	1	0	0	0	0	0	0	0	1	6065	1280	45	2		2	FOXM1	12	2983384	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1281072	2983384	130868511	135	73081											
EFCAB4B	84766	broad.mit.edu	37	chr12	3805979	3805979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttgccttcagcatCacaggtctgaaagaactcct	11	9	8	13	0	3	2	2	1	1	1	4	3	4	2	3	1	4	1	3	1	3	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:3805979C>A	ENST00000440314.2	-	4	660	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.D63Y|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.D63Y	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	63	EF-hand 1.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTTCAGCATCACAGGTCTGA	0.572													31	74					1.08312e-15	1.15648e-15	1	0	A	3805979	C	A	3805979	3	1	381	1	0	0	0	0	1	0	0	0	4973	826	29	2	2268	2	EFCAB4B	12	3805979	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	822595	3805979	130045916	136	73082											
C3AR1	719	broad.mit.edu	37	chr12	8212138	8212138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatcatttgtttggaaaGaggaaggatctaacctatca	14	12	10	5	0	3	2	2	1	1	1	3	6	3	5	1	3	1	1	1	3	4	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:8212138G>C	ENST00000307637.4	-	2	847	c.644C>G	c.(643-645)tCt>tGt	p.S215C		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	215					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGTTTGGAAAGAGGAAGGATC	0.428													34	136					0	0	0	0	C	8212138	G	C	8212138	3	2	381	1	0	0	0	0	1	0	0	0	2225	942	33	2	808	2	C3AR1	12	8212138	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	4406159	8212138	125639757	137	73083											
A2ML1	144568	broad.mit.edu	37	chr12	9002841	9002841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccgccagtacttcccagaGacctggctctgggatctgtt	6	11	11	13	1	2	1	0	0	2	1	4	3	4	2	4	2	1	3	4	2	1	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:9002841G>C	ENST00000299698.7	+	18	2385	c.2205G>C	c.(2203-2205)gaG>gaC	p.E735D	A2ML1_ENST00000539547.1_Missense_Mutation_p.E244D	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	579						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTTCCCAGAGACCTGGCTCT	0.498													51	139					0	0	0	0	C	9002841	G	C	9002841	3	2	381	1	0	0	0	0	1	0	0	0	5	933	33	2	2275	2	A2ML1	12	9002841	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	790703	9002841	124849054	138	73084											
GUCY2C	2984	broad.mit.edu	37	chr12	14794080	14794080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatgatctcctgtgcgatGatcccatagctgtacacatc	10	11	9	11	1	1	2	0	2	1	0	4	4	2	3	2	1	3	2	2	1	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:14794080G>C	ENST00000261170.3	-	18	2140	c.2004C>G	c.(2002-2004)atC>atG	p.I668M		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	668	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTGTGCGATGATCCCATAGC	0.493													23	74					0	0	0	0	C	14794080	G	C	14794080	3	2	381	1	0	0	0	0	1	0	0	0	6946	1280	45	2	1257	2	GUCY2C	12	14794080	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	5791239	14794080	119057815	139	73085											
KIF21A	55605	broad.mit.edu	37	chr12	39695412	39695412	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccccctctgcagccacTgagcaaaactgggtggtctg	9	8	11	13	0	2	1	0	1	2	0	2	1	2	1	3	2	5	2	3	2	3	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:39695412T>A	ENST00000395670.3	-	36	5223	c.4804A>T	c.(4804-4806)Agt>Tgt	p.S1602C	KIF21A_ENST00000361418.5_Missense_Mutation_p.S1601C|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1548C|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1564C|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1588C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1601					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCAGCCACTGAGCAAAACT	0.458													73	146					0	0	0	0	A	39695412	T	A	39695412	3	1	381	1	0	0	0	0	1	0	0	0	8339	1580	55	5	231	5	KIF21A	12	39695412	Missense_Mutation	SNP	T	TCGA-D6-A6ES-01A-12D-A31L-08	24901332	39695412	94156483	140	73086											
ANKS1B	56899	broad.mit.edu	37	chr12	100200372	100200372	+	Frame_Shift_Del	DEL	T	T	-																															agtccaaaggtgtttccagcTtgctatttctaattgtcggg																										TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:100200372delT	ENST00000547776.2	-	4	478	c.479delA	c.(478-480)agfs	p.K160fs	ANKS1B_ENST00000329257.7_Frame_Shift_Del_p.K160fs|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	160						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTTTCCAGCTTGCTATTTCT	0.463													23	40	---	---	---	---					-	100200372	T	-	100200372	7	5	381	1	0	1	0	1	0	0	0	0	688	1609	56	0	3647	0	ANKS1B	12	100200372	Frame_Shift_Del	DEL	T	TCGA-D6-A6ES-01A-12D-A31L-08	60504960	100200372	33651523	141	73087											
TDG	6996	broad.mit.edu	37	chr12	104373818	104373818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgaccaagactctccccGatattttgaccttcaatctg	9	14	5	13	1	4	3	1	2	3	1	5	4	4	3	4	0	0	0	4	0	3	5	rs149084574		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:104373818G>A	ENST00000392872.3	+	3	610	c.376G>A	c.(376-378)Gat>Aat	p.D126N	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.D122N	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	126					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GACTCTCCCCGATATTTTGAC	0.353								Base excision repair (BER), DNA glycosylases					24	28					0	0	0	0	A	104373818	G	A	104373818	3	1	381	1	0	0	0	0	1	0	0	0	15819	1058	37	1	386	1	TDG	12	104373818	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	4173446	104373818	29478077	142	73088											
TBX3	6926	broad.mit.edu	37	chr12	115112612	115112612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctctcggcctcggcGtcgctctcaccctcgctggg	1	12	11	17	5	3	0	1	0	3	0	8	0	3	0	2	3	1	3	2	3	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:115112612G>A	ENST00000349155.2	-	6	2031	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	TBX3_ENST00000257566.3_Silent_p.D376D	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	376					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGGCCTCGGCGTCGCTCTCAC	0.612													3	7					0	0	0	0	A	115112612	G	A	115112612	2	1	381	1	0	0	0	0	0	0	0	1	15753	1136	40	1		1	TBX3	12	115112612	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	10738794	115112612	18739283	143	73089											
P2RX7	5027	broad.mit.edu	37	chr12	121613222	121613222	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actacaaggaaaacaatgttGagaaacggactctgataaaa	20	7	8	6	1	1	2	0	2	1	1	1	5	1	4	0	2	3	1	0	2	8	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:121613222G>C	ENST00000328963.5	+	8	857	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	P2RX7_ENST00000535250.1_Missense_Mutation_p.E215Q|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.E216Q|P2RX7_ENST00000546057.1_Missense_Mutation_p.E305Q|P2RX7_ENST00000541446.1_Missense_Mutation_p.E16Q			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	305						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAACAATGTTGAGAAACGGAC	0.433													18	35					0	0	0	0	C	121613222	G	C	121613222	3	2	381	1	0	0	0	0	1	0	0	0	11416	1291	45	2	947	2	P2RX7	12	121613222	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	6500610	121613222	12238673	144	73090											
HIP1R	9026	broad.mit.edu	37	chr12	123342671	123342671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaggagcaggggctgcGgcagaggctgctggacgagc	7	5	19	10	2	1	1	1	0	1	1	2	4	1	3	0	6	4	5	0	6	0	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:123342671G>A	ENST00000253083.4	+	19	1963	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	613					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGGGGCTGCGGCAGAGGCTG	0.657													49	81					0	0	0	0	A	123342671	G	A	123342671	3	1	381	1	0	0	0	0	1	0	0	0	7165	1116	39	1	1912	1	HIP1R	12	123342671	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1729449	123342671	10509224	145	73091											
SACS	26278	broad.mit.edu	37	chr13	23915282	23915282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttctcactgctatcGgttaaactagccaagaactt	10	15	5	11	1	2	1	1	0	2	1	5	1	2	1	1	1	4	2	1	1	6	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:23915282G>A	ENST00000382298.3	-	10	3321	c.2733C>T	c.(2731-2733)acC>acT	p.T911T	SACS_ENST00000402364.1_Silent_p.T161T|SACS_ENST00000382292.3_Silent_p.T911T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	911					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACTGCTATCGGTTAAACTAG	0.363													36	66					0	0	0	0	A	23915282	G	A	23915282	2	1	381	1	0	0	0	0	0	0	0	1	13889	1103	39	1		1	SACS	13	23915282	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		23915282	91254596	146	73092											
MLNR	2862	broad.mit.edu	37	chr13	49794682	49794682	+	Frame_Shift_Del	DEL	G	G	-																															cgggcgctaccgggacatgcGgaccaccaccaacttgtacc																										TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:49794682delG	ENST00000398307.1	+	1	209	c.209delG	c.(208-210)cgfs	p.R70fs	MLNR_ENST00000218721.1_Frame_Shift_Del_p.R70fs			O43193	MTLR_HUMAN	motilin receptor	70					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGGACATGCGGACCACCACC	0.677													12	18	---	---	---	---					-	49794682	G	-	49794682	7	5	381	1	0	1	0	1	0	0	0	0	9701	1116	39	0	211	0	MLNR	13	49794682	Frame_Shift_Del	DEL	G	TCGA-D6-A6ES-01A-12D-A31L-08	25879400	49794682	65375196	147	73093											
NALCN	259232	broad.mit.edu	37	chr13	101881863	101881863	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactcccaagcttttttcCaggaccaaatatcttgtaca	13	12	4	12	0	1	0	0	0	1	0	3	1	3	1	3	1	3	2	3	1	5	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:101881863C>A	ENST00000251127.6	-	13	1588	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.G503*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	503						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTTTTTTCCAGGACCAAAT	0.398													50	91					1.38658e-30	1.52923e-30	1	0	A	101881863	C	A	101881863	4	1	381	1	0	0	0	0	0	1	0	0	10218	603	21	4	3837	4	NALCN	13	101881863	Nonsense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	52087181	101881863	13288015	148	73094											
MCF2L	23263	broad.mit.edu	37	chr13	113742891	113742891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaagccagccagcaccGggcgctggagcagtcacaga	11	2	14	14	3	1	2	1	0	0	2	1	3	1	3	3	2	4	4	3	2	1	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:113742891G>A	ENST00000397030.1	+	25	2919	c.2882G>A	c.(2881-2883)cGg>cAg	p.R961Q	MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R958Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	958					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCCAGCACCGGGCGCTGGAG	0.657													9	33					0	0	0	0	A	113742891	G	A	113742891	3	1	381	1	0	0	0	0	1	0	0	0	9448	1116	39	1	3147	1	MCF2L	13	113742891	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	11861028	113742891	1426987	149	73095											
MDP1	145553	broad.mit.edu	37	chr14	24684830	24684830	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggcacctctgggtacagtCggacgtcttggccccgccta	6	8	12	15	3	2	0	0	0	2	0	3	1	2	1	4	4	1	2	4	4	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:24684830C>G	ENST00000288087.7	-	3	248	c.137G>C	c.(136-138)cGa>cCa	p.R46P	NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR|MDP1_ENST00000396833.2_Missense_Mutation_p.R46P|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R63P	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						TGGGTACAGTCGGACGTCTTG	0.597											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	113	218					0	0	0	0	G	24684830	C	G	24684830	3	3	381	1	0	0	0	0	1	0	0	0	9485	884	31	3	409	3	MDP1	14	24684830	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		24684830	82664710	150	73096											
MDP1	145553	broad.mit.edu	37	chr14	24684863	24684863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgcctatctcgtacagttCcatcactggagagggcaaga	10	8	10	13	2	2	2	1	0	1	2	4	3	3	2	3	2	1	3	3	2	3	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:24684863C>T	ENST00000288087.7	-	3	215	c.104G>A	c.(103-105)gGa>gAa	p.G35E	NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR|MDP1_ENST00000396833.2_Missense_Mutation_p.G35E|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.G52E	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						TCGTACAGTTCCATCACTGGA	0.617											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	99	175					0	0	0	0	T	24684863	C	T	24684863	3	4	381	1	0	0	0	0	1	0	0	0	9485	855	30	2	442	2	MDP1	14	24684863	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	33	24684863	82664677	151	73097											
NOVA1	4857	broad.mit.edu	37	chr14	26917756	26917756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagaggtgatggccaccagGtcattgcctgtgaagccaga	10	7	14	10	0	1	4	1	2	0	2	1	4	1	4	4	3	2	1	4	3	1	1	rs150753405	by1000genomes	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:26917756G>T	ENST00000539517.2	-	5	1250	c.933C>A	c.(931-933)gaC>gaA	p.D311E	NOVA1_ENST00000267422.7_Missense_Mutation_p.D189E|NOVA1_ENST00000465357.2_Missense_Mutation_p.D287E	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	314	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			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)		TGGCCACCAGGTCATTGCCTG	0.488													13	36					3.27435e-08	3.36217e-08	1	0	T	26917756	G	T	26917756	3	4	381	1	0	0	0	0	1	0	0	0	10624	1252	44	4	594	4	NOVA1	14	26917756	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	2232893	26917756	80431784	152	73098											
RDH12	145226	broad.mit.edu	37	chr14	68193774	68193774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtggttaatgtgtcctcGgtggctcaccacattggcaa	7	11	13	10	2	1	0	1	0	0	0	3	0	2	0	2	5	0	3	2	5	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:68193774G>A	ENST00000551171.1	+	7	849	c.525G>A	c.(523-525)tcG>tcA	p.S175S	RDH12_ENST00000539142.1_Silent_p.S175S|RDH12_ENST00000267502.3_Silent_p.S175S	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	175			S -> P (in LCA13).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	ATGTGTCCTCGGTGGCTCACC	0.592													24	51					0	0	0	0	A	68193774	G	A	68193774	2	1	381	1	0	0	0	0	0	0	0	1	13273	1103	39	1		1	RDH12	14	68193774	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	41276018	68193774	39155766	153	73099											
PCNX	22990	broad.mit.edu	37	chr14	71518633	71518633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttattcaggctgctgtctCggccttcttctctactccac	4	16	7	14	1	4	0	1	0	3	0	7	0	5	0	2	2	2	3	2	2	2	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:71518633C>T	ENST00000304743.2	+	24	4927	c.4481C>T	c.(4480-4482)tCg>tTg	p.S1494L	PCNX_ENST00000238570.5_Missense_Mutation_p.S1494L|PCNX_ENST00000439984.3_Missense_Mutation_p.S1383L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1494						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCTGCTGTCTCGGCCTTCTTC	0.448													70	135					0	0	0	0	T	71518633	C	T	71518633	3	4	381	1	0	0	0	0	1	0	0	0	11662	893	31	1	4575	1	PCNX	14	71518633	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	3324859	71518633	35830907	154	73100											
TMEM63C	57156	broad.mit.edu	37	chr14	77709309	77709309	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgcaatcaacaccttcctCttcttcctcttcttctttct	6	18	1	16	1	7	0	1	0	6	0	10	0	9	0	3	0	1	1	3	0	2	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:77709309C>G	ENST00000298351.4	+	15	1395	c.1251C>G	c.(1249-1251)ctC>ctG	p.L417L		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	417						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACACCTTCCTCTTCTTCCTCT	0.532													17	46					0	0	0	0	G	77709309	C	G	77709309	2	3	381	1	0	0	0	0	0	0	0	1	16286	900	32	2		2	TMEM63C	14	77709309	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	6190676	77709309	29640231	155	73101											
STON2	85439	broad.mit.edu	37	chr14	81737200	81737200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtggcaaaagaaacaGtgtgggtgaccggaagctat	14	7	14	6	1	1	2	1	1	0	1	1	3	1	3	1	4	2	2	1	4	6	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:81737200G>C	ENST00000555447.1	-	7	2839	c.2427C>G	c.(2425-2427)caC>caG	p.H809Q	STON2_ENST00000267540.2_Missense_Mutation_p.H809Q	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	809	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAAAGAAACAGTGTGGGTGAC	0.483													22	47					0	0	0	0	C	81737200	G	C	81737200	3	2	381	1	0	0	0	0	1	0	0	0	15408	1020	36	4	292	4	STON2	14	81737200	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	4027891	81737200	25612340	156	73102											
HSP90AA1	3320	broad.mit.edu	37	chr14	102550210	102550211	+	Frame_Shift_Ins	INS	-	-	TTTT																															tcagtaaagagttctaagcaINSttttttgaccaaattcttcc																								rs143611681		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:102550210_102550211insTTTT	ENST00000334701.7	-	8	1904_1905	c.1623_1624insAAAA	c.(1621-1626)aagcttfs	p.L542fs	HSP90AA1_ENST00000441629.2_Frame_Shift_Ins_p.L241fs|HSP90AA1_ENST00000216281.8_Frame_Shift_Ins_p.L420fs	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	420					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	AGTTCTAAGCATTTTTTGACCA	0.371													7	38	---	---	---	---					TTTT	102550211	-	TTTT	102550210	7	5	381	1	0	1	1	0	0	0	0	0	7453	217	8	0	960	0	HSP90AA1	14	102550210	Frame_Shift_Ins	INS	-	TCGA-D6-A6ES-01A-12D-A31L-08	20813010	102550210	4799330	157	73103											
OR4M2	390538	broad.mit.edu	37	chr15	22369190	22369190	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatctgtagtagtggtctGatctctgtggtgtgtttgat	6	18	13	4	0	3	3	0	3	3	0	4	3	3	3	0	2	0	3	0	2	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:22369190G>T	ENST00000332663.2	+	1	713	c.615G>T	c.(613-615)ctG>ctT	p.L205L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTAGTGGTCTGATCTCTGTGG	0.468													45	113					9.52127e-25	1.04578e-24	1	0	T	22369190	G	T	22369190	2	4	381	1	0	0	0	0	0	0	0	1	11147	1277	45	2		2	OR4M2	15	22369190	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		22369190	80162202	158	73104											
CYFIP1	23191	broad.mit.edu	37	chr15	22956372	22956372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttctctcatgggctttttGagtttggcataactaatgta	8	17	8	8	0	2	1	1	1	1	0	3	1	2	1	1	2	1	4	1	2	3	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:22956372G>C	ENST00000435939.2	+	1	618	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	CYFIP1_ENST00000313077.7_Intron|CYFIP1_ENST00000560848.1_Intron	NM_001033028.1	NP_001028200.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	0					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGGCTTTTTGAGTTTGGCAT	0.542													17	27					0	0	0	0	C	22956372	G	C	22956372	3	2	381	1	0	0	0	0	1	0	0	0	4169	1291	45	2	2048	2	CYFIP1	15	22956372	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	587182	22956372	79575020	159	73105											
HERC2	8924	broad.mit.edu	37	chr15	28380751	28380751	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttaataaacacatgctGaatggattcaagcaatgttg	14	14	7	6	0	2	1	1	1	1	0	2	2	2	2	0	1	3	3	0	1	6	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:28380751G>A	ENST00000261609.7	-	79	12211	c.12103C>T	c.(12103-12105)Cag>Tag	p.Q4035*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4035					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACACATGCTGAATGGATTCA	0.483													33	61					0	0	0	0	A	28380751	G	A	28380751	4	1	381	1	0	0	0	0	0	1	0	0	7108	1299	45	2	2461	2	HERC2	15	28380751	Nonsense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	5424379	28380751	74150641	160	73106											
RYR3	6263	broad.mit.edu	37	chr15	33991959	33991959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtttcctttgctatttctgtCgaattagccggcaaaatcag	9	15	8	9	2	2	0	1	0	1	0	4	1	3	0	2	1	2	3	2	1	5	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:33991959C>G	ENST00000389232.4	+	41	6374	c.6304C>G	c.(6304-6306)Cga>Gga	p.R2102G	RYR3_ENST00000415757.3_Missense_Mutation_p.R2102G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2102	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTATTTCTGTCGAATTAGCCG	0.433													8	15					0	0	0	0	G	33991959	C	G	33991959	3	3	381	1	0	0	0	0	1	0	0	0	13855	876	31	3	6466	3	RYR3	15	33991959	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	5611208	33991959	68539433	161	73107											
CCDC33	80125	broad.mit.edu	37	chr15	74627346	74627346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcgacgctggggacgaGagaagcaggatctggccaca	11	4	15	11	3	1	1	0	0	1	1	2	6	1	3	1	4	2	3	1	4	1	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:74627346G>A	ENST00000321288.5	+	21	2767	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	CCDC33_ENST00000558821.1_Missense_Mutation_p.E279K|CCDC33_ENST00000398814.3_Missense_Mutation_p.E686K|CCDC33_ENST00000268082.4_Missense_Mutation_p.E313K			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	889							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGGGGACGAGAGAAGCAGGA	0.577													37	79					0	0	0	0	A	74627346	G	A	74627346	3	1	381	1	0	0	0	0	1	0	0	0	2832	943	33	2	2305	2	CCDC33	15	74627346	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	40635387	74627346	27904046	162	73108											
C15orf39	56905	broad.mit.edu	37	chr15	75499829	75499829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcactgcccccctgtgcCcgggagtgccagtctcttcc	4	8	10	19	1	1	0	0	0	1	0	3	1	2	1	7	1	4	1	7	1	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:75499829C>T	ENST00000360639.2	+	2	1760	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	C15orf39_ENST00000567617.1_Silent_p.A480A|C15orf39_ENST00000394987.4_Silent_p.A480A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	480										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCCTGTGCCCGGGAGTGCC	0.637													38	71					0	0	0	0	T	75499829	C	T	75499829	2	4	381	1	0	0	0	0	0	0	0	1	1805	610	22	4		4	C15orf39	15	75499829	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	872483	75499829	27031563	163	73109											
ACAN	176	broad.mit.edu	37	chr15	89401247	89401247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagtggggcaacatcaGgagtccctgacctggtttct	7	11	13	10	0	3	1	2	1	1	0	4	2	4	2	2	5	1	3	2	5	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:89401247G>A	ENST00000439576.2	+	12	5805	c.5431G>A	c.(5431-5433)Gga>Aga	p.G1811R	ACAN_ENST00000561243.1_Missense_Mutation_p.G1811R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1811R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1811R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1811					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCAACATCAGGAGTCCCTGA	0.522													7	27					0	0	0	0	A	89401247	G	A	89401247	3	1	381	1	0	0	0	0	1	0	0	0	117	1001	35	4	5473	4	ACAN	15	89401247	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	13901418	89401247	13130145	164	73110											
XYLT1	64131	broad.mit.edu	37	chr16	17211668	17211668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcggcagtggactcaatgaGgatgtcgtaggtggctgcga	8	10	16	7	3	1	1	1	1	0	0	3	4	1	3	0	5	1	3	0	5	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:17211668G>T	ENST00000261381.6	-	11	2476	c.2392C>A	c.(2392-2394)Ctc>Atc	p.L798I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	798					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACTCAATGAGGATGTCGTAG	0.562													28	56					6.07407e-21	6.64429e-21	1	0	T	17211668	G	T	17211668	3	4	381	1	0	0	0	0	1	0	0	0	17559	1000	35	4	495	4	XYLT1	16	17211668	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		17211668	73143085	165	73111											
ABCC12	94160	broad.mit.edu	37	chr16	48180286	48180286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcaaaggatctccgcCggcctcgctggtccagatct	6	11	10	14	3	3	1	0	0	3	1	6	2	4	2	4	3	1	2	4	3	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:48180286C>T	ENST00000311303.3	-	1	395	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	ABCC12_ENST00000448542.1_Missense_Mutation_p.R17Q|ABCC12_ENST00000416054.1_Missense_Mutation_p.R17Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	17						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGATCTCCGCCGGCCTCGCTG	0.577													23	45					0	0	0	0	T	48180286	C	T	48180286	3	4	381	1	0	0	0	0	1	0	0	0	52	652	23	1	4145	1	ABCC12	16	48180286	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	30968618	48180286	42174467	166	73112											
CHD9	80205	broad.mit.edu	37	chr16	53289659	53289659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacaaaaactattacaattGaatcagaaggacgtgggtca	17	9	9	6	1	2	2	2	1	0	1	2	3	2	3	0	2	3	1	0	2	8	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:53289659G>C	ENST00000566029.1	+	19	4386	c.4177G>C	c.(4177-4179)Gaa>Caa	p.E1393Q	CHD9_ENST00000447540.1_Missense_Mutation_p.E1393Q|CHD9_ENST00000398510.3_Missense_Mutation_p.E1393Q|CHD9_ENST00000564845.1_Missense_Mutation_p.E1393Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1393					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TATTACAATTGAATCAGAAGG	0.368													56	104					0	0	0	0	C	53289659	G	C	53289659	3	2	381	1	0	0	0	0	1	0	0	0	3361	1291	45	2	4247	2	CHD9	16	53289659	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	5109373	53289659	37065094	167	73113											
PLEKHG4	25894	broad.mit.edu	37	chr16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcagagatggtggccacgGagcgggagtatgtccgggct	7	7	19	8	3	0	1	0	0	0	1	1	4	1	3	2	6	1	3	2	6	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622													29	48					0	0	0	0	A	67319227	G	A	67319227	3	1	381	1	0	0	0	0	1	0	0	0	12143	1175	41	2	2280	2	PLEKHG4	16	67319227	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	14029568	67319227	23035526	168	73114											
ZNF23	7571	broad.mit.edu	37	chr16	71482838	71482838	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacactctttacactgatAgggcttttctcctgtgtgga	7	15	8	11	0	2	1	0	1	2	0	4	2	3	2	2	2	1	1	2	2	2	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:71482838A>G	ENST00000393539.2	-	6	1903	c.1090T>C	c.(1090-1092)Tat>Cat	p.Y364H	ZNF23_ENST00000358700.2_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.Y306H|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.Y364H|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000357254.4_Missense_Mutation_p.Y364H|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.Y306H	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTACACTGATAGGGCTTTTCT	0.428													23	26					0	0	0	0	G	71482838	A	G	71482838	3	3	381	1	0	0	0	0	1	0	0	0	17878	420	15	5	845	5	ZNF23	16	71482838	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	4163611	71482838	18871915	169	73115											
WDR59	79726	broad.mit.edu	37	chr16	74919617	74919617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagctcgcttctctctcaGaccccaacggtagaggattt	8	12	8	13	2	3	2	2	0	2	2	6	3	3	3	2	2	2	3	2	2	2	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:74919617G>C	ENST00000262144.6	-	25	2753	c.2623C>G	c.(2623-2625)Ctg>Gtg	p.L875V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	875										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTCTCTCTCAGACCCCAACGG	0.463													24	40					0	0	0	0	C	74919617	G	C	74919617	3	2	381	1	0	0	0	0	1	0	0	0	17404	933	33	2	309	2	WDR59	16	74919617	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	3436779	74919617	15435136	170	73116											
LDHD	197257	broad.mit.edu	37	chr16	75146567	75146567	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcagggttgaccagcaGgatgcagtggaagttgccgt	9	9	15	8	1	2	1	2	1	0	0	2	3	2	3	2	3	3	4	2	3	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:75146567G>C	ENST00000300051.4	-	10	1337	c.1291C>G	c.(1291-1293)Ctg>Gtg	p.L431V	LDHD_ENST00000450168.2_Missense_Mutation_p.L408V	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	431							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TTGACCAGCAGGATGCAGTGG	0.602													17	31					0	0	0	0	C	75146567	G	C	75146567	3	2	381	1	0	0	0	0	1	0	0	0	8756	991	35	4	240	4	LDHD	16	75146567	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	226950	75146567	15208186	171	73117											
WDR81	124997	broad.mit.edu	37	chr17	1634161	1634161	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtgtcagggcctgtgctCagctgcctcctccacatcgc	5	10	10	16	2	2	0	2	0	0	0	6	0	4	0	4	1	3	2	4	1	0	0	rs145262105		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:1634161C>T	ENST00000409644.1	+	3	3888	c.3888C>T	c.(3886-3888)ctC>ctT	p.L1296L	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.L69L|WDR81_ENST00000309182.5_Silent_p.L245L|WDR81_ENST00000437219.2_Silent_p.L93L|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000545662.1_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	69										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCTGTGCTCAGCTGCCTCC	0.632													39	63					0	0	0	0	T	1634161	C	T	1634161	2	4	381	1	0	0	0	0	0	0	0	1	17426	813	29	2		2	WDR81	17	1634161	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		1634161	79561049	172	73118											
WDR81	124997	broad.mit.edu	37	chr17	1639389	1639389	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtccgtgccctggccatCagccccagtggccgtagtgt	4	10	12	15	2	1	0	1	0	0	0	2	0	2	0	6	2	2	1	6	2	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:1639389C>T	ENST00000409644.1	+	9	5382	c.5382C>T	c.(5380-5382)atC>atT	p.I1794I	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.I567I|WDR81_ENST00000309182.5_Silent_p.I743I|WDR81_ENST00000437219.2_Silent_p.I591I|WDR81_ENST00000446363.1_Silent_p.I433I|WDR81_ENST00000545662.1_Silent_p.I425I	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	567										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGGCCATCAGCCCCAGTG	0.677													29	64					0	0	0	0	T	1639389	C	T	1639389	2	4	381	1	0	0	0	0	0	0	0	1	17426	816	29	2		2	WDR81	17	1639389	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	5228	1639389	79555821	173	73119											
C1QBP	708	broad.mit.edu	37	chr17	5337061	5337061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctttataacttcaaccacGaaattgggagttgatgtcag	12	14	8	7	1	3	1	2	1	1	0	3	3	3	2	1	1	2	1	1	1	4	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:5337061G>A	ENST00000225698.4	-	4	585	c.504C>T	c.(502-504)ttC>ttT	p.F168F	C1QBP_ENST00000574444.1_Silent_p.F64F	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	168					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						CTTCAACCACGAAATTGGGAG	0.468													23	61					0	0	0	0	A	5337061	G	A	5337061	2	1	381	1	0	0	0	0	0	0	0	1	1975	1049	37	1		1	C1QBP	17	5337061	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	3697672	5337061	75858149	174	73120											
FBXO39	162517	broad.mit.edu	37	chr17	6683709	6683709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctaaaaggggccaggctGaccgtggagcaaggctgcca	12	4	14	11	1	0	1	0	1	0	0	0	2	0	2	4	5	3	3	4	5	4	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6683709G>A	ENST00000321535.4	+	2	652	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	174										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GGGCCAGGCTGACCGTGGAGC	0.498													36	47					0	0	0	0	A	6683709	G	A	6683709	2	1	381	1	0	0	0	0	0	0	0	1	5792	1277	45	2		2	FBXO39	17	6683709	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1346648	6683709	74511501	175	73121											
ALOX12	239	broad.mit.edu	37	chr17	6913722	6913722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgaagcccagctgcataGagaacagtgtcaccatctga	13	8	9	11	0	3	3	1	2	2	1	3	4	3	3	2	0	4	2	2	0	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6913722G>A	ENST00000251535.6	+	14	2025	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	658	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAGCTGCATAGAGAACAGTGT	0.433													23	54					0	0	0	0	A	6913722	G	A	6913722	3	1	381	1	0	0	0	0	1	0	0	0	536	943	33	2	2026	2	ALOX12	17	6913722	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	230013	6913722	74281488	176	73122											
BCL6B	255877	broad.mit.edu	37	chr17	6927606	6927606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtggtccaggcatgccaCcgcttcatccaggccaggtg	7	7	12	15	2	1	0	1	0	0	0	3	0	3	0	5	4	1	2	5	4	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6927606C>A	ENST00000293805.5	+	3	476	c.384C>A	c.(382-384)caC>caA	p.H128Q	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	128						nucleus	zinc ion binding			skin(1)	1						AGGCATGCCACCGCTTCATCC	0.592													89	36					1.68737e-39	1.88423e-39	1	0	A	6927606	C	A	6927606	3	1	381	1	0	0	0	0	1	0	0	0	1381	506	18	4	390	4	BCL6B	17	6927606	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	13884	6927606	74267604	177	73123											
TRPV2	51393	broad.mit.edu	37	chr17	16335342	16335342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacaggccccaatgccacaGagtcagtgcagcccatggag	11	5	11	14	0	1	1	1	0	0	1	1	2	1	2	4	2	4	1	4	2	2	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:16335342G>A	ENST00000338560.7	+	12	2116	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E143K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	573					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAATGCCACAGAGTCAGTGCA	0.622													31	53					0	0	0	0	A	16335342	G	A	16335342	3	1	381	1	0	0	0	0	1	0	0	0	16691	943	33	2	1759	2	TRPV2	17	16335342	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	9407736	16335342	64859868	178	73124											
CASC3	22794	broad.mit.edu	37	chr17	38296830	38296830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcggcggcagcgcgcttCgcaagacaccgaggacgagg	8	2	17	14	8	0	1	0	0	0	1	1	4	0	2	2	5	1	3	2	5	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:38296830C>T	ENST00000264645.7	+	1	255	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	10					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.S10L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGCGCGCTTCGCAAGACACC	0.726													29	533					0	0	0	0	T	38296830	C	T	38296830	3	4	381	1	0	0	0	0	1	0	0	0	2686	893	31	1	31	1	CASC3	17	38296830	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	21961488	38296830	42898380	179	73125											
GPATCH8	23131	broad.mit.edu	37	chr17	42478745	42478745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccactatttgtagctgattCatctttatcatcttctccac	8	17	4	12	0	5	1	2	1	3	0	6	1	5	1	2	0	1	2	2	0	3	7			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:42478745C>T	ENST00000434000.1	-	9	748	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	GPATCH8_ENST00000591680.1_Missense_Mutation_p.E234K			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	234						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTAGCTGATTCATCTTTATCA	0.443													38	78					0	0	0	0	T	42478745	C	T	42478745	3	4	381	1	0	0	0	0	1	0	0	0	6643	835	29	2	3812	2	GPATCH8	17	42478745	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	4181915	42478745	38716465	180	73126											
DYNLL2	140735	broad.mit.edu	37	chr17	56166589	56166589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacacgagacaaagcacttCatctatttttacttgggtca	13	12	6	10	1	3	1	2	0	1	1	3	2	3	1	0	1	2	1	0	1	3	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:56166589C>T	ENST00000240343.6	+	3	497	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	73					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity			lung(3)	3						CAAAGCACTTCATCTATTTTT	0.478													22	66					0	0	0	0	T	56166589	C	T	56166589	2	4	381	1	0	0	0	0	0	0	0	1	4885	825	29	2		2	DYNLL2	17	56166589	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	13687844	56166589	25028621	181	73127											
SLC38A10	124565	broad.mit.edu	37	chr17	79220344	79220344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgggatggagcagggCggcccccaggagctctgagg	6	5	19	11	1	1	1	0	1	1	0	2	4	2	4	3	7	2	2	3	7	0	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:79220344C>T	ENST00000374759.3	-	16	2755	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	791					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGAGCAGGGCGGCCCCCAGG	0.682													30	53					0	0	0	0	T	79220344	C	T	79220344	3	4	381	1	0	0	0	0	1	0	0	0	14690	768	27	1	991	1	SLC38A10	17	79220344	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	23053755	79220344	1974866	182	73128											
MYOM1	8736	broad.mit.edu	37	chr18	3176073	3176073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgcatcccatatcgaCtctcaataatatactttcca	12	13	5	11	1	1	0	1	0	1	0	5	2	3	0	2	0	2	1	2	0	5	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:3176073C>T	ENST00000356443.4	-	6	1322	c.989G>A	c.(988-990)aGt>aAt	p.S330N	MYOM1_ENST00000261606.7_Missense_Mutation_p.S330N|MYOM1_ENST00000400569.3_Missense_Mutation_p.S330N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	330	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCATATCGACTCTCAATAAT	0.408													6	33					0	0	0	0	T	3176073	C	T	3176073	3	4	381	1	0	0	0	0	1	0	0	0	10161	565	20	4	4200	4	MYOM1	18	3176073	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		3176073	74901175	183	73129											
C18orf8	29919	broad.mit.edu	37	chr18	21099089	21099089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaataggacgggaaagtttgCcctgaacgtggtggacaacc	13	7	13	8	2	0	1	0	1	0	0	0	4	0	4	2	4	3	1	2	4	5	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:21099089C>T	ENST00000269221.3	+	9	910	c.800C>T	c.(799-801)gCc>gTc	p.A267V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	267										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAAAGTTTGCCCTGAACGTG	0.428													4	103					0	0	0	0	T	21099089	C	T	21099089	3	4	381	1	0	0	0	0	1	0	0	0	1925	739	26	4	834	4	C18orf8	18	21099089	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	17923016	21099089	56978159	184	73130											
ZNF521	25925	broad.mit.edu	37	chr18	22806267	22806267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaaatcgggagccactgaGgtcacaatgaacctgtctaa	13	7	9	12	1	2	2	1	2	1	0	3	3	2	3	3	2	2	0	3	2	4	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:22806267G>T	ENST00000361524.3	-	4	1763	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	ZNF521_ENST00000538137.2_Missense_Mutation_p.L539I|ZNF521_ENST00000584787.1_Missense_Mutation_p.L319I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	539					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGCCACTGAGGTCACAATGA	0.433			T	PAX5	ALL								27	84					9.80776e-20	1.06849e-19	1	0	T	22806267	G	T	22806267	3	4	381	1	0	0	0	0	1	0	0	0	18060	1000	35	4	2340	4	ZNF521	18	22806267	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1707178	22806267	55270981	185	73131											
DSG4	147409	broad.mit.edu	37	chr18	28989738	28989738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatgtgcacccatgacaGcctcaaatacccaggatcgg	13	8	8	12	1	1	1	1	1	0	0	2	2	1	2	3	2	3	1	3	2	4	3	rs147049549	by1000genomes	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:28989738G>T	ENST00000308128.4	+	14	2239	c.2104G>T	c.(2104-2106)Gcc>Tcc	p.A702S	DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	702					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCATGACAGCCTCAAATAC	0.328													16	33					2.39187e-15	2.53368e-15	1	0	T	28989738	G	T	28989738	3	4	381	1	0	0	0	0	1	0	0	0	4815	971	34	4	2158	4	DSG4	18	28989738	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	6183471	28989738	49087510	186	73132											
ASXL3	80816	broad.mit.edu	37	chr18	31324832	31324832	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaatctgaacttcacGaagcagacaagggctttaga	14	9	10	8	1	2	4	1	2	1	2	2	5	2	4	0	1	2	2	0	1	5	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:31324832G>T	ENST00000269197.5	+	12	5020	c.5020G>T	c.(5020-5022)Gaa>Taa	p.E1674*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478													34	58					2.08457e-15	2.21692e-15	1	0	T	31324832	G	T	31324832	4	4	381	1	0	0	0	0	0	1	0	0	1072	1059	37	3	5066	3	ASXL3	18	31324832	Nonsense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	2335094	31324832	46752416	187	73133											
SLC25A23	79085	broad.mit.edu	37	chr19	6454339	6454339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtacctgccctcacctgttCataggccatgaacttgatag	9	12	8	12	0	2	2	2	2	0	0	2	2	2	2	4	1	3	2	4	1	4	5			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:6454339C>T	ENST00000301454.4	-	6	896	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	SLC25A23_ENST00000414491.2_Missense_Mutation_p.E81K|SLC25A23_ENST00000334510.5_Missense_Mutation_p.E264K	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	264					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CTCACCTGTTCATAGGCCATG	0.532													115	126					0	0	0	0	T	6454339	C	T	6454339	3	4	381	1	0	0	0	0	1	0	0	0	14574	835	29	2	636	2	SLC25A23	19	6454339	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		6454339	52674644	188	73134											
MUC16	94025	broad.mit.edu	37	chr19	9071094	9071094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtggtactcatcagaGgtgtggctttcgatgtctct	6	14	14	7	1	3	1	2	0	1	1	5	3	3	2	0	5	1	2	0	5	1	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:9071094G>C	ENST00000397910.4	-	3	16555	c.16352C>G	c.(16351-16353)cCt>cGt	p.P5451R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5453	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCATCAGAGGTGTGGCTTT	0.488													4	223					0	0	0	0	C	9071094	G	C	9071094	3	2	381	1	0	0	0	0	1	0	0	0	10043	1000	35	4	27499	4	MUC16	19	9071094	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	2616755	9071094	50057889	189	73135											
EIF3G	8666	broad.mit.edu	37	chr19	10227598	10227598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggtcgcccttgcagatgCggcaggacacgatcttctgg	7	9	14	11	3	2	1	0	0	2	1	3	3	2	2	1	4	2	2	1	4	0	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:10227598C>T	ENST00000253108.4	-	7	515	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	158						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTTGCAGATGCGGCAGGACAC	0.647													51	76					0	0	0	0	T	10227598	C	T	10227598	3	4	381	1	0	0	0	0	1	0	0	0	5055	768	27	1	509	1	EIF3G	19	10227598	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	1156504	10227598	48901385	190	73136											
ZNF791	163049	broad.mit.edu	37	chr19	12738613	12738613	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtcccaatctcagtgtGacgaagaagactgccggagt	11	9	11	10	2	2	3	2	1	1	2	4	5	3	4	2	1	1	0	2	1	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:12738613G>A	ENST00000343325.4	+	4	432	c.270G>A	c.(268-270)gtG>gtA	p.V90V	ZNF791_ENST00000458122.3_Silent_p.V58V|ZNF791_ENST00000446165.1_Silent_p.*70*|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	90	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATCTCAGTGTGACGAAGAAGA	0.448													60	140					0	0	0	0	A	12738613	G	A	12738613	2	1	381	1	0	0	0	0	0	0	0	1	18256	1277	45	2		2	ZNF791	19	12738613	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	2511015	12738613	46390370	191	73137											
NFIX	4784	broad.mit.edu	37	chr19	13136140	13136140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaaccccgaccagaaGggcaagatccggcggattga	11	5	11	14	3	1	3	0	1	1	2	3	5	2	4	5	3	1	1	5	3	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:13136140G>A	ENST00000358552.3	+	1	330	c.330G>A	c.(328-330)aaG>aaA	p.K110K	NFIX_ENST00000588228.1_Silent_p.K64K|NFIX_ENST00000587760.1_Silent_p.K103K|NFIX_ENST00000360105.4_Silent_p.K114K|NFIX_ENST00000585575.1_Silent_p.K103K|NFIX_ENST00000397661.2_Silent_p.K111K|NFIX_ENST00000592199.1_Silent_p.K111K|NFIX_ENST00000587260.1_Silent_p.K110K			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	111					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.K111K(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGACCAGAAGGGCAAGATCC	0.617													29	49					0	0	0	0	A	13136140	G	A	13136140	2	1	381	1	0	0	0	0	0	0	0	1	10444	991	35	4		4	NFIX	19	13136140	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	397527	13136140	45992843	192	73138											
CCDC105	126402	broad.mit.edu	37	chr19	15131272	15131272	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctcccctccccacccaGaccctggcctcctgccgaga	5	7	6	23	1	1	2	0	0	1	2	5	3	4	2	10	1	1	0	10	1	0	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:15131272G>A	ENST00000292574.3	+	3	757		c.e3-1			NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105						microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCCCACCCAGACCCTGGCCT	0.572													16	19					0	0	0	0	A	15131272	G	A	15131272	5	1	381	1	0	0	0	0	0	0	1	0	2765	956	33	2	685	2	CCDC105	19	15131272	Splice_Site	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1995132	15131272	43997711	193	73139											
NOTCH3	4854	broad.mit.edu	37	chr19	15284885	15284885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtcactcacccgatcAcctcgggggccagctcccga	6	6	13	16	3	3	0	3	0	0	0	5	2	4	0	4	4	1	1	4	4	0	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:15284885A>G	ENST00000263388.2	-	25	4805	c.4730T>C	c.(4729-4731)gTg>gCg	p.V1577A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1577					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCACCCGATCACCTCGGGGGC	0.627													10	44					0	0	0	0	G	15284885	A	G	15284885	3	3	381	1	0	0	0	0	1	0	0	0	10620	159	6	5	2271	5	NOTCH3	19	15284885	Missense_Mutation	SNP	A	TCGA-D6-A6ES-01A-12D-A31L-08	153613	15284885	43844098	194	73140											
CRTC1	23373	broad.mit.edu	37	chr19	18864339	18864339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacagtcccaggaatggaaGagaccacatcagaggcagac	16	4	11	10	0	1	3	1	0	0	3	2	6	2	5	2	3	1	1	2	3	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:18864339G>A	ENST00000338797.6	+	7	641	c.616G>A	c.(616-618)Gag>Aag	p.E206K	CRTC1_ENST00000594658.1_Missense_Mutation_p.E149K|CRTC1_ENST00000321949.8_Missense_Mutation_p.E190K|CRTC1_ENST00000601916.1_Missense_Mutation_p.E115K	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	190					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGGAATGGAAGAGACCACATC	0.463													111	196					0	0	0	0	A	18864339	G	A	18864339	3	1	381	1	0	0	0	0	1	0	0	0	3929	943	33	2	642	2	CRTC1	19	18864339	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	3579454	18864339	40264644	195	73141											
SLC25A42	284439	broad.mit.edu	37	chr19	19206982	19206982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgattgcatgaggatgctGaggctgtcctgtcctcgtcc	5	12	13	11	2	0	2	0	2	0	0	4	4	3	3	3	2	3	3	3	2	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:19206982G>C	ENST00000318596.7	+	2	200	c.49G>C	c.(49-51)Gag>Cag	p.E17Q		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	17					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGAGGATGCTGAGGCTGTCCT	0.647													11	42					0	0	0	0	C	19206982	G	C	19206982	3	2	381	1	0	0	0	0	1	0	0	0	14595	1291	45	2	51	2	SLC25A42	19	19206982	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	342643	19206982	39922001	196	73142											
ZNF737	100129842	broad.mit.edu	37	chr19	20735341	20735341	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtttttttccttgctccaGacaggtgatgaggtctggct	6	15	12	8	0	1	3	0	2	1	1	3	3	3	3	2	4	1	3	2	4	0	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:20735341G>A	ENST00000427401.4	-	3	260	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	ZNF737_ENST00000596797.1_Silent_p.L56L	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	56					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCTTGCTCCAGACAGGTGATG	0.383													26	40					0	0	0	0	A	20735341	G	A	20735341	2	1	381	1	0	0	0	0	0	0	0	1	18220	933	33	2		2	ZNF737	19	20735341	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	1528359	20735341	38393642	197	73143											
WDR62	284403	broad.mit.edu	37	chr19	36562515	36562515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcttctgtggctgcacaGatgggatagtccgcatcttc	7	13	10	11	1	4	1	1	0	3	1	6	2	5	2	1	2	1	3	1	2	1	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:36562515G>A	ENST00000401500.2	+	8	975	c.940G>A	c.(940-942)Gat>Aat	p.D314N	WDR62_ENST00000388999.3_Missense_Mutation_p.D314N|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Missense_Mutation_p.D314N	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	314					cerebral cortex development	nucleus				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)			TGGCTGCACAGATGGGATAGT	0.597													41	58					0	0	0	0	A	36562515	G	A	36562515	3	1	381	1	0	0	0	0	1	0	0	0	17409	942	33	2	970	2	WDR62	19	36562515	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	15827174	36562515	22566468	198	73144											
FCGBP	8857	broad.mit.edu	37	chr19	40398454	40398454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accacgtcggcgccgctcagGtgtgcgtgcaggagcgagtc	6	6	16	13	6	1	0	1	0	0	0	3	2	1	1	2	3	3	2	2	3	0	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40398454G>T	ENST00000221347.6	-	14	6520	c.6513C>A	c.(6511-6513)caC>caA	p.H2171Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2171	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCCGCTCAGGTGTGCGTGCA	0.682													8	67					1.33834e-09	1.38484e-09	1	0	T	40398454	G	T	40398454	3	4	381	1	0	0	0	0	1	0	0	0	5823	1252	44	4	9796	4	FCGBP	19	40398454	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	3835939	40398454	18730529	199	73145											
PLD3	23646	broad.mit.edu	37	chr19	40872562	40872562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgagctgcccatgaatGagattgaggcgtggaaggct	11	8	14	8	1	0	4	0	4	0	1	0	6	0	5	2	3	2	2	2	3	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40872562G>A	ENST00000409587.1	+	4	470	c.73G>A	c.(73-75)Gag>Aag	p.E25K	PLD3_ENST00000409735.4_Missense_Mutation_p.E25K|PLD3_ENST00000409281.1_Missense_Mutation_p.E25K|PLD3_ENST00000356508.5_Missense_Mutation_p.E25K|PLD3_ENST00000409419.1_Missense_Mutation_p.E25K			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	25					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCCATGAATGAGATTGAGGC	0.652													6	128					0	0	0	0	A	40872562	G	A	40872562	3	1	381	1	0	0	0	0	1	0	0	0	12119	1291	45	2	79	2	PLD3	19	40872562	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	474108	40872562	18256421	200	73146											
PRX	57716	broad.mit.edu	37	chr19	40902620	40902620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgacactttcggcagctGtacctctggaagccgcacct	7	10	9	15	2	2	1	0	1	2	0	3	2	2	2	3	2	3	4	3	2	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40902620G>C	ENST00000324001.7	-	7	1909	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	547	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.E545_P549delEVQLP(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCGGCAGCTGTACCTCTGGA	0.587													5	269					0	0	0	0	C	40902620	G	C	40902620	3	2	381	1	0	0	0	0	1	0	0	0	12721	1386	48	4	2750	4	PRX	19	40902620	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	30058	40902620	18226363	201	73147											
ZNF284	342909	broad.mit.edu	37	chr19	44589927	44589927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaccacatgaagagtggtCttgccagcaaatctgggaac	13	7	12	9	0	2	2	0	1	2	1	2	4	2	4	2	3	3	1	2	3	3	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:44589927C>G	ENST00000421176.3	+	5	512	c.296C>G	c.(295-297)tCt>tGt	p.S99C	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GAAGAGTGGTCTTGCCAGCAA	0.463													39	50					0	0	0	0	G	44589927	C	G	44589927	3	3	381	1	0	0	0	0	1	0	0	0	17916	913	32	2	310	2	ZNF284	19	44589927	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	3687307	44589927	14539056	202	73148											
RPL13A	23521	broad.mit.edu	37	chr19	49994709	49994709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctggggcgcctggctcacGaggttggctggaagtaccag	7	8	16	10	2	2	0	1	0	1	0	2	2	2	1	2	6	1	4	2	6	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:49994709G>A	ENST00000391857.4	+	7	506	c.430G>A	c.(430-432)Gag>Aag	p.E144K	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	144					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGGCTCACGAGGTTGGCTG	0.577													5	2					0	0	0	0	A	49994709	G	A	49994709	3	1	381	1	0	0	0	0	1	0	0	0	13645	1059	37	1	456	1	RPL13A	19	49994709	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	5404782	49994709	9134274	203	73149											
IRF3	3661	broad.mit.edu	37	chr19	50164047	50164047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaccagagggcatagcGtggtgagcgtccgcttcctt	9	8	13	11	3	0	3	0	1	0	2	2	3	2	3	3	2	3	2	3	2	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:50164047G>A	ENST00000597198.1	-	7	1402	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599223.1_Missense_Mutation_p.R214C|IRF3_ENST00000598808.1_Missense_Mutation_p.R195C|IRF3_ENST00000600022.1_Missense_Mutation_p.R68C|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000599144.1_Missense_Mutation_p.R195C|IRF3_ENST00000377139.3_Missense_Mutation_p.R341C|IRF3_ENST00000377135.4_Missense_Mutation_p.R214C|IRF3_ENST00000601291.1_Missense_Mutation_p.T346M|IRF3_ENST00000309877.7_Missense_Mutation_p.R341C|IRF3_ENST00000596765.1_Missense_Mutation_p.R68C|IRF3_ENST00000593922.1_Missense_Mutation_p.R195C|IRF3_ENST00000600911.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	341	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGGGCATAGCGTGGTGAGCGT	0.612													6	7					0	0	0	0	A	50164047	G	A	50164047	3	1	381	1	0	0	0	0	1	0	0	0	7884	1145	40	1	270	1	IRF3	19	50164047	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	169338	50164047	8964936	204	73150											
FAM71E1	112703	broad.mit.edu	37	chr19	50978706	50978706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggcaacttctcccaaccGagtcacctggggccagaggt	8	8	12	13	1	2	1	1	0	1	1	3	2	2	1	4	4	2	2	4	4	2	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:50978706G>A	ENST00000600100.1	-	3	779	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	FAM71E1_ENST00000595790.1_Missense_Mutation_p.R123W			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	139										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TCTCCCAACCGAGTCACCTGG	0.612													10	20					0	0	0	0	A	50978706	G	A	50978706	3	1	381	1	0	0	0	0	1	0	0	0	5657	1057	37	1	336	1	FAM71E1	19	50978706	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	814659	50978706	8150277	205	73151											
LILRA4	23547	broad.mit.edu	37	chr19	54849884	54849884	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgccctgacaccagatGgtcacggggttatgccaggt	8	8	15	10	1	1	2	1	1	0	1	1	2	1	2	3	5	2	1	3	5	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:54849884G>C	ENST00000291759.4	-	3	194	c.138C>G	c.(136-138)acC>acG	p.T46T		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	46	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GACACCAGATGGTCACGGGGT	0.527											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	80					0	0	0	0	C	54849884	G	C	54849884	2	2	381	1	0	0	0	0	0	0	0	1	8841	1335	47	4		4	LILRA4	19	54849884	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	3871178	54849884	4279099	206	73152											
NLRP4	147945	broad.mit.edu	37	chr19	56369063	56369063	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacaaagacctatcaagctCacgcaaagcagaaattcagc	18	5	6	12	1	3	2	3	0	0	2	3	2	3	2	1	0	3	3	1	0	5	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:56369063C>G	ENST00000301295.6	+	3	726	c.304C>G	c.(304-306)Cac>Gac	p.H102D	NLRP4_ENST00000587891.1_Missense_Mutation_p.H27D|NLRP4_ENST00000346986.5_Missense_Mutation_p.H102D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	102							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTATCAAGCTCACGCAAAGCA	0.428													22	36					0	0	0	0	G	56369063	C	G	56369063	3	3	381	1	0	0	0	0	1	0	0	0	10549	826	29	2	310	2	NLRP4	19	56369063	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	1519179	56369063	2759920	207	73153											
NOP56	10528	broad.mit.edu	37	chr20	2637154	2637154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatctcccgatacctggCaaacaaatgcagtattgcct	11	9	7	14	2	1	0	0	0	1	0	2	1	1	0	4	1	4	4	4	1	4	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:2637154C>T	ENST00000329276.5	+	9	1634	c.1118C>T	c.(1117-1119)gCa>gTa	p.A373V	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	373	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CGATACCTGGCAAACAAATGC	0.552													36	52					0	0	0	0	T	2637154	C	T	2637154	3	4	381	1	0	0	0	0	1	0	0	0	10609	710	25	4	1152	4	NOP56	20	2637154	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		2637154	60388366	208	73154											
DUSP15	128853	broad.mit.edu	37	chr20	30436231	30436231	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtacaagaagaggaagcGgctcgcttaggatggaggca	12	5	17	7	3	0	2	0	0	0	2	1	5	0	5	0	6	2	4	0	6	5	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:30436231G>A	ENST00000278979.3	-	10	940	c.864C>T	c.(862-864)gcC>gcT	p.A288A				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	288						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGAGGAAGCGGCTCGCTTAG	0.622													11	31					0	0	0	0	A	30436231	G	A	30436231	2	1	381	1	0	0	0	0	0	0	0	1	4851	1131	39	1		1	DUSP15	20	30436231	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	27799077	30436231	32589289	209	73155											
ASXL1	171023	broad.mit.edu	37	chr20	31023157	31023157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgagggaaagtgatactaGacaagaaaacttgaaaacca	20	7	9	5	0	0	5	0	3	0	2	0	6	0	6	1	1	3	0	1	1	9	4			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:31023157G>C	ENST00000375687.4	+	13	3066	c.2642G>C	c.(2641-2643)aGa>aCa	p.R881T	ASXL1_ENST00000306058.5_Missense_Mutation_p.R876T	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	881				TRQ -> ASE (in Ref. 6; CAB56029).	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.R881fs*13(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGTGATACTAGACAAGAAAAC	0.458			"F, N, Mis"		"MDS, CMML"								67	99					0	0	0	0	C	31023157	G	C	31023157	3	2	381	1	0	0	0	0	1	0	0	0	1070	942	33	2	2698	2	ASXL1	20	31023157	Missense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	586926	31023157	32002363	210	73156											
ASXL1	171023	broad.mit.edu	37	chr20	31023208	31023208	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctaacagttctttgcattGgatacccatcccatcgaatg	10	14	6	11	1	2	0	0	0	2	0	4	2	3	1	2	1	3	2	2	1	3	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:31023208G>A	ENST00000375687.4	+	13	3117	c.2693G>A	c.(2692-2694)tGg>tAg	p.W898*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.W893*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	898					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCTTTGCATTGGATACCCATC	0.473			"F, N, Mis"		"MDS, CMML"								43	76					0	0	0	0	A	31023208	G	A	31023208	4	1	381	1	0	0	0	0	0	1	0	0	1070	1357	47	4	2749	4	ASXL1	20	31023208	Nonsense_Mutation	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	51	31023208	32002312	211	73157											
BPI	671	broad.mit.edu	37	chr20	36964027	36964027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaggcttccctctccCgacgccggccagagtccagc	9	5	10	17	3	1	2	0	0	1	2	4	3	3	2	5	2	1	1	5	2	1	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:36964027C>A	ENST00000262865.4	+	14	1465	c.1376C>A	c.(1375-1377)cCg>cAg	p.P459Q	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	459					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTCCCTCTCCCGACGCCGGCC	0.557													37	87					9.14704e-12	9.57581e-12	1	0	A	36964027	C	A	36964027	3	1	381	1	0	0	0	0	1	0	0	0	1498	652	23	3	1430	3	BPI	20	36964027	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	5940819	36964027	26061493	212	73158											
LAMA5	3911	broad.mit.edu	37	chr20	60884502	60884503	+	Frame_Shift_Ins	INS	-	-	GG																															ctcatgcagccgcagtaggcINSggggggccagggctgcacgg																										TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:60884502_60884503insGG	ENST00000252999.3	-	80	11043_11044	c.10977_10978insCC	c.(10975-10980)cccctafs	p.L3660fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3660	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGCAGTAGGCGGGGGGCCAGG	0.688													8	17	---	---	---	---					GG	60884503	-	GG	60884502	7	5	381	1	0	1	1	0	0	0	0	0	8662	768	27	0	113	0	LAMA5	20	60884502	Frame_Shift_Ins	INS	-	TCGA-D6-A6ES-01A-12D-A31L-08	23920475	60884502	2141018	213	73159											
DOPEY2	9980	broad.mit.edu	37	chr21	37626126	37626126	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgacttggtgtgtgcactCagcaccctgcagactgacac	8	9	11	13	1	1	2	1	1	0	1	2	3	1	2	1	1	3	3	1	1	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr21:37626126C>G	ENST00000399151.3	+	23	5263	c.5178C>G	c.(5176-5178)ctC>ctG	p.L1726L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1726					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				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						TGTGTGCACTCAGCACCCTGC	0.527													38	73					0	0	0	0	G	37626126	C	G	37626126	2	3	381	1	0	0	0	0	0	0	0	1	4744	813	29	2		2	DOPEY2	21	37626126	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		37626126	10503769	214	73160											
LCA5L	150082	broad.mit.edu	37	chr21	40795314	40795314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagccttgctgagagtattCgatgagccatagcatctctt	10	12	10	9	1	1	2	0	2	1	1	3	5	1	2	2	0	4	3	2	0	3	5	rs141252242		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr21:40795314C>G	ENST00000358268.2	-	5	953	c.425G>C	c.(424-426)cGa>cCa	p.R142P	LCA5L_ENST00000380671.2_Missense_Mutation_p.R142P|LCA5L_ENST00000288350.3_Missense_Mutation_p.R142P|LCA5L_ENST00000485895.2_Missense_Mutation_p.R142P			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	142										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TGAGAGTATTCGATGAGCCAT	0.348													27	46					0	0	0	0	G	40795314	C	G	40795314	3	3	381	1	0	0	0	0	1	0	0	0	8710	884	31	3	1611	3	LCA5L	21	40795314	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	3169188	40795314	7334581	215	73161											
CCDC116	164592	broad.mit.edu	37	chr22	21989383	21989383	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccagcttggagcccacctCagatctgccgcctctgggct	6	8	10	17	1	3	1	1	0	2	1	3	2	3	2	5	2	3	2	5	2	0	1			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:21989383C>G	ENST00000292779.3	+	4	1192	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	344										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GAGCCCACCTCAGATCTGCCG	0.662													22	57					0	0	0	0	G	21989383	C	G	21989383	4	3	381	1	0	0	0	0	0	1	0	0	2778	838	29	2	1041	2	CCDC116	22	21989383	Nonsense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08		21989383	29315183	216	73162											
CYP2D6	1565	broad.mit.edu	37	chr22	42522658	42522658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggctgggccggggctgtCcagtgggcaccgagaagctg	5	6	20	10	2	0	1	0	0	0	1	1	2	1	1	3	6	1	4	3	6	1	0			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:42522658C>A	ENST00000360608.5	-	9	1526	c.1412G>T	c.(1411-1413)gGa>gTa	p.G471V	CYP2D6_ENST00000359033.4_Missense_Mutation_p.G420V|CYP2D6_ENST00000389970.3_Missense_Mutation_p.G471V|NDUFA6-AS1_ENST00000416037.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	471							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGGGCTGTCCAGTGGGCAC	0.637													9	11					0.000442599	0.00044761	1	0	A	42522658	C	A	42522658	3	1	381	1	0	0	0	0	1	0	0	0	4201	855	30	2	85	2	CYP2D6	22	42522658	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	20533275	42522658	8781908	217	73163											
CYP2D6	1565	broad.mit.edu	37	chr22	42522959	42522959	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccagacggcctcatccttCagcaccgatgacaggttggt	8	9	10	14	2	2	2	2	1	0	1	4	3	4	2	4	3	1	2	4	3	0	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:42522959C>G	ENST00000360608.5	-	8	1323	c.1209G>C	c.(1207-1209)ctG>ctC	p.L403L	CYP2D6_ENST00000359033.4_Silent_p.L352L|CYP2D6_ENST00000389970.3_Silent_p.L403L|NDUFA6-AS1_ENST00000416037.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	403							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.L352L(1)|p.L403L(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTCATCCTTCAGCACCGATG	0.602													3	20					0	0	0	0	G	42522959	C	G	42522959	2	3	381	1	0	0	0	0	0	0	0	1	4201	813	29	2		2	CYP2D6	22	42522959	Silent	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	301	42522959	8781607	218	73164											
SHANK3	85358	broad.mit.edu	37	chr22	51159731	51159731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcgagggtccctggCttccccggctttctccccac	4	8	10	19	2	1	1	0	0	1	1	4	2	3	1	6	3	1	2	6	3	0	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:51159731C>T	ENST00000414786.2	+	21	3655	c.3428C>T	c.(3427-3429)gCt>gTt	p.A1143V	SHANK3_ENST00000445220.2_Missense_Mutation_p.A1159V|SHANK3_ENST00000262795.3_Missense_Mutation_p.A1173V			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1173										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGTCCCTGGCTTCCCCGGCT	0.706													12	25					0	0	0	0	T	51159731	C	T	51159731	3	4	381	1	0	0	0	0	1	0	0	0	14354	797	28	4	3604	4	SHANK3	22	51159731	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	8636772	51159731	144835	219	73165											
DGKK	139189	broad.mit.edu	37	chrX	50213142	50213142	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggacattgcaatagacatGgtgctggacttggacggaac	11	8	13	9	2	0	1	0	0	0	1	0	5	0	5	1	5	3	2	1	5	3	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:50213142G>T	ENST00000376025.2	-	0	595							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAATAGACATGGTGCTGGACT	0.622													13	9					1.5842e-08	1.63294e-08	1	0	T	50213142	G	T	50213142	1	4	381	0	1	0	0	0	0	0	0	0	4509	1348	47	4		4	DGKK	23	50213142	RNA	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08		50213142	105057418	220	73166											
TBX22	50945	broad.mit.edu	37	chrX	79279589	79279589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctctgttcgggtcaaGgtgaaagggttggatccagg	7	11	14	9	1	2	1	1	1	1	0	5	2	4	2	3	5	0	2	3	5	2	3			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:79279589G>A	ENST00000442340.1	+	4	514	c.24G>A	c.(22-24)aaG>aaA	p.K8K	TBX22_ENST00000373296.3_Silent_p.K128K|TBX22_ENST00000373294.5_Silent_p.K128K|TBX22_ENST00000373291.1_Silent_p.K8K	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	128					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K128N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCGGGTCAAGGTGAAAGGGT	0.488													37	17					0	0	0	0	A	79279589	G	A	79279589	2	1	381	1	0	0	0	0	0	0	0	1	15752	991	35	4		4	TBX22	23	79279589	Silent	SNP	G	TCGA-D6-A6ES-01A-12D-A31L-08	29066447	79279589	75990971	221	73167											
GPR112	139378	broad.mit.edu	37	chrX	135429656	135429656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaagaccagatgaccatatCcctgggaaaaacccctagaa	17	5	7	12	0	0	4	0	1	0	3	1	5	1	5	5	1	1	0	5	1	6	2			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:135429656C>T	ENST00000394143.1	+	6	4082	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1059F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1059F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1264F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1201F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGACCATATCCCTGGGAAAA	0.443													17	40					0	0	0	0	T	135429656	C	T	135429656	3	4	381	1	0	0	0	0	1	0	0	0	6678	855	30	2	3801	2	GPR112	23	135429656	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	56150067	135429656	19840904	222	73168											
MAGEC1	9947	broad.mit.edu	37	chrX	140994683	140994683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgagtcttttccagagttCccctgagtgtactcaaagta	10	14	8	9	0	2	3	1	2	1	1	4	3	4	3	3	0	1	3	3	0	3	6			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:140994683C>A	ENST00000285879.4	+	4	1779	c.1493C>A	c.(1492-1494)tCc>tAc	p.S498Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	498							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGTGT	0.498										HNSCC(15;0.026)			94	44					4.08182e-41	4.57711e-41	1	0	A	140994683	C	A	140994683	3	1	381	1	0	0	0	0	1	0	0	0	9249	855	30	2	1499	2	MAGEC1	23	140994683	Missense_Mutation	SNP	C	TCGA-D6-A6ES-01A-12D-A31L-08	5565027	140994683	14275877	223	73169											
SLC2A5	6518	broad.mit.edu	37	chr1	9100042	9100042	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccagccgcgcagcgtctgTagggctggggagaagcggca	7	5	17	12	4	1	1	0	0	1	1	2	2	2	1	2	4	3	4	2	4	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:9100042T>A	ENST00000377424.4	-	7	881	c.702A>T	c.(700-702)ctA>ctT	p.L234L	SLC2A5_ENST00000536305.1_Silent_p.L175L|SLC2A5_ENST00000535586.1_Silent_p.L119L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	234					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGTCTGTAGGGCTGGGG	0.687													13	38					0	0	0	0	A	9100042	T	A	9100042	2	1	382	1	0	0	0	0	0	0	0	1	14636	1625	57	5		5	SLC2A5	1	9100042	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08		9100042	240150579	1	73170											
KIF1B	23095	broad.mit.edu	37	chr1	10355164	10355164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccacatcttgttaacctCaatgaagacccactaatgtc	13	10	4	14	0	2	2	1	1	1	1	3	2	2	2	4	0	1	1	4	0	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:10355164C>T	ENST00000377086.1	+	18	1813	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	KIF1B_ENST00000377081.1_Silent_p.L537L|KIF1B_ENST00000377093.4_Silent_p.L491L|KIF1B_ENST00000377083.1_Silent_p.L491L|KIF1B_ENST00000263934.6_Silent_p.L491L			O60333	KIF1B_HUMAN	kinesin family member 1B	537					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTGTTAACCTCAATGAAGACC	0.423													28	88					0	0	0	0	T	10355164	C	T	10355164	2	4	382	1	0	0	0	0	0	0	0	1	8335	813	29	2		2	KIF1B	1	10355164	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1255122	10355164	238895457	2	73171											
MIIP	60672	broad.mit.edu	37	chr1	12091355	12091355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgggacatttttcctccGaagtctgagaaaagctcagc	10	10	11	10	1	2	1	1	1	1	1	4	4	4	2	2	2	2	2	2	2	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:12091355G>A	ENST00000436478.2	+	8	980	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	MIIP_ENST00000235332.4_Silent_p.P325P|MIIP_ENST00000466860.1_3'UTR			Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	0										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TTTTTCCTCCGAAGTCTGAGA	0.607													8	28					0	0	0	0	A	12091355	G	A	12091355	3	1	382	1	0	0	0	0	1	0	0	0	9654	1045	37	1	1005	1	MIIP	1	12091355	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1736191	12091355	237159266	3	73172											
VPS13D	55187	broad.mit.edu	37	chr1	12569058	12569058	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcagcgaaaaccgagagCagctggagctggactcctga	12	5	13	11	2	1	2	1	1	0	1	2	7	2	4	2	2	5	3	2	2	2	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:12569058C>T	ENST00000358136.3	+	70	13277	c.13147C>T	c.(13147-13149)Cag>Tag	p.Q4383*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q4358*|VPS13D_ENST00000471923.1_Nonsense_Mutation_p.Q39*|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Nonsense_Mutation_p.Q381*|VPS13D_ENST00000543710.1_Nonsense_Mutation_p.Q187*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4382					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACCGAGAGCAGCTGGAGCT	0.542													35	76					0	0	0	0	T	12569058	C	T	12569058	4	4	382	1	0	0	0	0	0	1	0	0	17288	711	25	4	13421	4	VPS13D	1	12569058	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	477703	12569058	236681563	4	73173											
ARHGEF19	128272	broad.mit.edu	37	chr1	16531875	16531875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcattgaaggccttggtggCcatgtcttcgtcttcagagc	6	12	12	11	2	3	2	1	1	2	1	4	2	3	2	2	3	1	1	2	3	1	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:16531875C>A	ENST00000270747.3	-	10	1763	c.1627G>T	c.(1627-1629)Gcc>Tcc	p.A543S	ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	543	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTGGTGGCCATGTCTTCG	0.617													12	28					1.3612e-06	1.45861e-06	1	0	A	16531875	C	A	16531875	3	1	382	1	0	0	0	0	1	0	0	0	904	739	26	4	809	4	ARHGEF19	1	16531875	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3962817	16531875	232718746	5	73174											
MYOM3	127294	broad.mit.edu	37	chr1	24401884	24401884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttggaccactgaaactctGaggagtcgggggcttcaggg	8	9	15	9	1	2	2	1	2	1	0	3	4	2	4	1	5	1	1	1	5	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:24401884G>A	ENST00000330966.7	-	22	2948	c.2786C>T	c.(2785-2787)tCa>tTa	p.S929L	MYOM3_ENST00000374434.3_Missense_Mutation_p.S928L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.S928L|RP11-293P20.4_ENST00000429191.1_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	928										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTGAAACTCTGAGGAGTCGGG	0.517													9	113					0	0	0	0	A	24401884	G	A	24401884	3	1	382	1	0	0	0	0	1	0	0	0	10163	1294	45	2	1594	2	MYOM3	1	24401884	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	7870009	24401884	224848737	6	73175											
RUNX3	864	broad.mit.edu	37	chr1	25256172	25256172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcgcacgagctcgcctGcgtggtccgccagcacgtcc	4	6	14	17	7	0	0	0	0	0	0	3	1	2	0	4	2	4	3	4	2	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:25256172G>T	ENST00000399916.1	-	2	668	c.230C>A	c.(229-231)gCa>gAa	p.A77E	RUNX3_ENST00000308873.6_Missense_Mutation_p.A63E|RUNX3_ENST00000338888.3_Missense_Mutation_p.A77E	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	63	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGCTCGCCTGCGTGGTCCGC	0.731													4	16					0.000602214	0.00061809	1	0	T	25256172	G	T	25256172	3	4	382	1	0	0	0	0	1	0	0	0	13834	1319	46	4	1079	4	RUNX3	1	25256172	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	854288	25256172	223994449	7	73176											
KIAA1522	57648	broad.mit.edu	37	chr1	33237216	33237216	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggctccccagagcttgtCagctccccggctgcttcgtc	4	10	10	17	2	2	1	2	0	0	1	6	1	4	1	4	2	3	5	4	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:33237216C>G	ENST00000401073.2	+	6	2506	c.2436C>G	c.(2434-2436)gtC>gtG	p.V812V	KIAA1522_ENST00000373480.1_Silent_p.V753V|KIAA1522_ENST00000373481.3_Silent_p.V764V|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	753	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGAGCTTGTCAGCTCCCCGG	0.642													6	23					0	0	0	0	G	33237216	C	G	33237216	2	3	382	1	0	0	0	0	0	0	0	1	8289	813	29	2		2	KIAA1522	1	33237216	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7981044	33237216	216013405	8	73177											
RNF220	55182	broad.mit.edu	37	chr1	45091998	45091998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtctgcttccatcaagagGgaaggagagtctccaacggc	10	9	12	10	1	3	2	1	0	2	2	5	4	4	3	2	3	2	1	2	3	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:45091998G>A	ENST00000355387.2	+	5	1284	c.834G>A	c.(832-834)agG>agA	p.R278R	RNF220_ENST00000443020.2_Silent_p.R39R|RNF220_ENST00000372247.2_Silent_p.R278R|RNF220_ENST00000361799.2_Silent_p.R278R			Q5VTB9	RN220_HUMAN	ring finger protein 220	278					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCATCAAGAGGGAAGGAGAGT	0.542													16	32					0	0	0	0	A	45091998	G	A	45091998	2	1	382	1	0	0	0	0	0	0	0	1	13568	1223	43	4		4	RNF220	1	45091998	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	11854782	45091998	204158623	9	73178											
PODN	127435	broad.mit.edu	37	chr1	53541549	53541549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgaccttggcacccCgcttcctgccaaacgccctg	6	7	8	20	2	0	1	0	1	0	0	1	1	1	1	7	1	3	3	7	1	1	2	rs76250115	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:53541549C>T	ENST00000371500.3	+	7	915	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	PODN_ENST00000312553.5_Missense_Mutation_p.R211C|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	163					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTGGCACCCCGCTTCCTGCC	0.597													3	20					0	0	0	0	T	53541549	C	T	53541549	3	4	382	1	0	0	0	0	1	0	0	0	12250	652	23	1	649	1	PODN	1	53541549	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	8449551	53541549	195709072	10	73179											
ATG4C	84938	broad.mit.edu	37	chr1	63282341	63282341	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgtaaagatttcatttctAgaatatggctgacctacagg	12	14	8	7	1	2	3	1	1	1	2	3	3	2	3	1	2	1	2	1	2	6	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:63282341A>T	ENST00000317868.4	+	4	463	c.256A>T	c.(256-258)Aga>Tga	p.R86*	ATG4C_ENST00000371120.3_Nonsense_Mutation_p.R86*	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	86					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TTTCATTTCTAGAATATGGCT	0.423													14	28					0	0	0	0	T	63282341	A	T	63282341	4	4	382	1	0	0	0	0	0	1	0	0	1102	412	15	5	266	5	ATG4C	1	63282341	Nonsense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	9740792	63282341	185968280	11	73180											
EFCAB7	84455	broad.mit.edu	37	chr1	63999310	63999310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaactgatccagaaacattCttaaataaaggtatttactt	18	13	4	6	0	1	2	0	1	1	1	2	2	2	2	1	1	3	1	1	1	9	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:63999310C>G	ENST00000371088.4	+	5	918	c.672C>G	c.(670-672)ttC>ttG	p.F224L		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	224							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAGAAACATTCTTAAATAAAG	0.353													8	99					0	0	0	0	G	63999310	C	G	63999310	3	3	382	1	0	0	0	0	1	0	0	0	4976	912	32	2	686	2	EFCAB7	1	63999310	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	716969	63999310	185251311	12	73181											
LEPR	3953	broad.mit.edu	37	chr1	66088592	66088592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttatcctttgtagaatGaaaaagctattttgggaaga	13	15	9	4	0	0	3	0	1	0	2	1	4	1	4	1	1	1	3	1	1	7	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:66088592G>T	ENST00000349533.6	+	19	2786	c.2601G>T	c.(2599-2601)atG>atT	p.M867I	LEPR_ENST00000371059.3_Missense_Mutation_p.M867I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.M867I|LEPR_ENST00000344610.8_Missense_Mutation_p.M867I|LEPR_ENST00000371060.3_Missense_Mutation_p.M867I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	867					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTTGTAGAATGAAAAAGCTAT	0.358													16	29					9.16793e-09	1.02568e-08	1	0	T	66088592	G	T	66088592	3	4	382	1	0	0	0	0	1	0	0	0	8781	1290	45	2	2667	2	LEPR	1	66088592	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2089282	66088592	183162029	13	73182											
ZRANB2	9406	broad.mit.edu	37	chr1	71538196	71538196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttctctttctatatattCaacattttctctttcattaa	9	23	0	9	0	6	0	2	0	4	0	8	0	6	0	0	0	1	0	0	0	5	11			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:71538196C>T	ENST00000370920.3	-	5	638	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E113K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	113					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTATATATTCAACATTTTCT	0.289													39	68					0	0	0	0	T	71538196	C	T	71538196	3	4	382	1	0	0	0	0	1	0	0	0	18316	835	29	2	717	2	ZRANB2	1	71538196	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5449604	71538196	177712425	14	73183											
HIAT1	64645	broad.mit.edu	37	chr1	100546113	100546113	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtctgggaccggccctCtatggattcattttctacat	8	14	9	10	1	4	0	1	0	3	0	4	2	4	2	2	4	1	0	2	4	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:100546113C>A	ENST00000370152.3	+	11	1300	c.1164C>A	c.(1162-1164)ctC>ctA	p.L388L	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	388					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GACCGGCCCTCTATGGATTCA	0.403													53	122					1.19403e-26	1.58842e-26	1	0	A	100546113	C	A	100546113	2	1	382	1	0	0	0	0	0	0	0	1	7147	900	32	2		2	HIAT1	1	100546113	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	29007917	100546113	148704508	15	73184											
VAV3	10451	broad.mit.edu	37	chr1	108298048	108298048	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggaaagataattacataCcaaattctctatagatagct	17	12	6	6	0	1	2	0	0	1	2	2	4	1	3	1	1	3	1	1	1	8	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:108298048C>T	ENST00000370056.4	-	12	1448		c.e12+1		VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000371846.4_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TAATTACATACCAAATTCTCT	0.368													10	15					0	0	0	0	T	108298048	C	T	108298048	5	4	382	1	0	0	0	0	0	0	1	0	17229	521	18	4	1458	4	VAV3	1	108298048	Splice_Site	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7751935	108298048	140952573	16	73185											
PRPF38B	55119	broad.mit.edu	37	chr1	109241261	109241261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggaggctgtgtaatGaccattggagaaatgctacg	10	10	15	6	1	0	2	0	1	0	1	0	4	0	3	1	4	2	4	1	4	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:109241261G>T	ENST00000370021.1	+	6	898	c.261G>T	c.(259-261)atG>atT	p.M87I	PRPF38B_ENST00000370025.4_Missense_Mutation_p.M198I			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	198					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GCTGTGTAATGACCATTGGAG	0.373													19	46					5.26018e-13	6.20595e-13	1	0	T	109241261	G	T	109241261	3	4	382	1	0	0	0	0	1	0	0	0	12648	1290	45	2	612	2	PRPF38B	1	109241261	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	943213	109241261	140009360	17	73186											
WDR47	22911	broad.mit.edu	37	chr1	109529169	109529169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcaattacatctggatagGcacatactctcagagttttt	12	14	7	8	0	3	1	2	0	2	1	4	3	3	2	0	2	2	2	0	2	4	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:109529169G>A	ENST00000357672.3	-	9	2192	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	WDR47_ENST00000361054.3_Missense_Mutation_p.A606V|WDR47_ENST00000400794.3_Missense_Mutation_p.A642V|WDR47_ENST00000369965.4_Missense_Mutation_p.A635V|WDR47_ENST00000369962.3_Missense_Mutation_p.A634V			O94967	WDR47_HUMAN	WD repeat domain 47	634										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATCTGGATAGGCACATACTCT	0.378													25	49					0	0	0	0	A	109529169	G	A	109529169	3	1	382	1	0	0	0	0	1	0	0	0	17396	1203	42	4	882	4	WDR47	1	109529169	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	287908	109529169	139721452	18	73187											
GSTM4	2948	broad.mit.edu	37	chr1	110201531	110201531	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtttgttggagacaaGgtaatgggggcatgtgatga	10	11	16	4	0	0	3	0	2	0	1	0	4	0	3	1	5	0	4	1	5	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:110201531G>A	ENST00000369833.1	+	4	1247	c.333_splice	c.e4+1	p.K111_splice	GSTM4_ENST00000336075.5_Splice_Site_p.K91_splice|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Splice_Site_p.K152_splice|GSTM4_ENST00000369836.4_Splice_Site_p.K152_splice			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	152	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTGGAGACAAGGTAATGGGGG	0.483													10	184					0	0	0	0	A	110201531	G	A	110201531	5	1	382	1	0	0	0	0	0	0	1	0	6890	1014	35	4	478	4	GSTM4	1	110201531	Splice_Site	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	672362	110201531	139049090	19	73188											
RPRD2	23248	broad.mit.edu	37	chr1	150444725	150444725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaataggaggatgtcagggGagccgatccagaccgtagag	12	5	15	9	2	1	2	1	0	0	2	2	6	2	5	4	4	1	1	4	4	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:150444725G>A	ENST00000401000.4	+	10	3288	c.3223G>A	c.(3223-3225)Gag>Aag	p.E1075K	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.E1101K			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1101							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GATGTCAGGGGAGCCGATCCA	0.532													11	21					0	0	0	0	A	150444725	G	A	150444725	3	1	382	1	0	0	0	0	1	0	0	0	13702	1175	41	2	3343	2	RPRD2	1	150444725	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	40243194	150444725	98805896	20	73189											
SEMA6C	10500	broad.mit.edu	37	chr1	151108997	151108997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgctccttgaacttgcCctcaaacccacgctcaatct	8	11	4	18	1	4	1	2	1	2	0	5	1	5	1	4	0	4	2	4	0	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:151108997C>A	ENST00000341697.3	-	12	2724	c.1033G>T	c.(1033-1035)Ggc>Tgc	p.G345C				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	345	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGAACTTGCCCTCAAACCCA	0.557													48	159					5.78141e-17	7.15327e-17	1	0	A	151108997	C	A	151108997	3	1	382	1	0	0	0	0	1	0	0	0	14128	623	22	4	1891	4	SEMA6C	1	151108997	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	664272	151108997	98141624	21	73190											
HRNR	388697	broad.mit.edu	37	chr1	152188305	152188305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccatgttggccgtggcccaAagactgacgggagccagacc	9	5	13	14	2	0	3	0	1	0	2	0	4	0	4	5	3	1	1	5	3	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152188305A>G	ENST00000368801.2	-	3	5875	c.5800T>C	c.(5800-5802)Ttg>Ctg	p.L1934L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1934					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGGCCCAAAGACTGACGG	0.587													47	1593					0	0	0	0	G	152188305	A	G	152188305	2	3	382	1	0	0	0	0	0	0	0	1	7409	11	1	5		5	HRNR	1	152188305	Silent	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	1079308	152188305	97062316	22	73191											
FLG	2312	broad.mit.edu	37	chr1	152280015	152280015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggacgttgagtgcctggaGctgtctcgtgcctgcttgtg	3	13	16	9	2	1	1	0	1	1	0	2	3	1	3	2	2	4	3	2	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152280015G>A	ENST00000368799.1	-	3	7382	c.7347C>T	c.(7345-7347)agC>agT	p.S2449S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2449	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCCTGGAGCTGTCTCGTG	0.592									Ichthyosis				166	276					0	0	0	0	A	152280015	G	A	152280015	2	1	382	1	0	0	0	0	0	0	0	1	5967	962	34	4		4	FLG	1	152280015	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	91710	152280015	96970606	23	73192											
FLG	2312	broad.mit.edu	37	chr1	152283199	152283199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactaccactggaccctCggtgtccactgtctctgact	6	11	8	16	1	1	2	0	2	1	0	4	3	2	3	4	2	1	0	4	2	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152283199C>A	ENST00000368799.1	-	3	4198	c.4163G>T	c.(4162-4164)cGa>cTa	p.R1388L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1388	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.562									Ichthyosis				43	487					1.00953e-15	1.2334e-15	1	0	A	152283199	C	A	152283199	3	1	382	1	0	0	0	0	1	0	0	0	5967	884	31	3	8026	3	FLG	1	152283199	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3184	152283199	96967422	24	73193											
CD1C	911	broad.mit.edu	37	chr1	158262029	158262029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagtttggcccaaagtGtctgtcatctactcaatcat	10	13	9	9	0	5	0	3	0	2	0	5	1	5	1	1	2	1	1	1	2	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158262029G>A	ENST00000368170.3	+	3	763	c.484G>A	c.(484-486)Gtc>Atc	p.V162I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	162					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGCCCAAAGTGTCTGTCATCT	0.453													153	184					0	0	0	0	A	158262029	G	A	158262029	3	1	382	1	0	0	0	0	1	0	0	0	3005	1377	48	4	494	4	CD1C	1	158262029	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	5978830	158262029	90988592	25	73194											
SPTA1	6708	broad.mit.edu	37	chr1	158641151	158641151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actatgatcttctcttcctgGgcagtaaaggcttcctcaaa	10	13	7	11	0	3	1	1	1	2	0	6	1	5	1	2	2	0	3	2	2	4	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158641151G>A	ENST00000368148.3	-	12	1761	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	SPTA1_ENST00000368147.3_Silent_p.A527A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	527					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTCTTCCTGGGCAGTAAAGG	0.468													38	36					0	0	0	0	A	158641151	G	A	158641151	2	1	382	1	0	0	0	0	0	0	0	1	15206	1219	43	4		4	SPTA1	1	158641151	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	379122	158641151	90609470	26	73195											
OR6N1	128372	broad.mit.edu	37	chr1	158736137	158736137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatagctgtcaggagataGcactcagtcgctccaaggga	11	7	12	11	1	2	1	2	0	0	1	4	3	3	2	2	2	2	3	2	2	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158736137G>C	ENST00000335094.2	-	1	355	c.336C>G	c.(334-336)tgC>tgG	p.C112W		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCAGGAGATAGCACTCAGTCG	0.498													12	51					0	0	0	0	C	158736137	G	C	158736137	3	2	382	1	0	0	0	0	1	0	0	0	11277	963	34	4	605	4	OR6N1	1	158736137	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	94986	158736137	90514484	27	73196											
PEX19	5824	broad.mit.edu	37	chr1	160249959	160249959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcacatattttgcacatGacgctgtgctgctcctgata	8	14	8	11	1	1	2	1	2	0	0	2	2	2	2	1	0	4	5	1	0	2	4	rs140105219		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:160249959G>A	ENST00000368072.5	-	6	693	c.672C>T	c.(670-672)gtC>gtT	p.V224V	PEX19_ENST00000440949.3_Silent_p.V134V|DCAF8_ENST00000556710.1_Silent_p.V77V|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTGCACATGACGCTGTGCT	0.473													49	224					0	0	0	0	A	160249959	G	A	160249959	2	1	382	1	0	0	0	0	0	0	0	1	11816	1277	45	2		2	PEX19	1	160249959	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1513822	160249959	89000662	28	73197											
DUSP27	92235	broad.mit.edu	37	chr1	167097365	167097365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccacgaggcaaatggcaaCtctgtaagaagcacttcacg	14	7	9	11	2	2	1	1	0	1	1	2	2	2	1	1	2	3	4	1	2	5	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:167097365C>A	ENST00000361200.2	+	6	3163	c.2997C>A	c.(2995-2997)aaC>aaA	p.N999K	DUSP27_ENST00000443333.1_Missense_Mutation_p.N999K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.N999K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	999	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAAATGGCAACTCTGTAAGAA	0.522													14	59					3.45872e-05	3.6329e-05	1	0	A	167097365	C	A	167097365	3	1	382	1	0	0	0	0	1	0	0	0	4860	564	20	4	3015	4	DUSP27	1	167097365	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6847406	167097365	82153256	29	73198											
RCSD1	92241	broad.mit.edu	37	chr1	167666589	167666589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcctctgaggaggtcacCcagcaggacagagaagcagg	11	4	14	12	0	2	2	1	1	1	1	3	5	3	4	3	4	2	2	3	4	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:167666589C>A	ENST00000367854.3	+	6	1059	c.728C>A	c.(727-729)cCc>cAc	p.P243H	RCSD1_ENST00000537350.1_Missense_Mutation_p.P213H	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	243	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AGGAGGTCACCCAGCAGGACA	0.622													17	15					3.52763e-06	3.76625e-06	1	0	A	167666589	C	A	167666589	3	1	382	1	0	0	0	0	1	0	0	0	13267	623	22	4	750	4	RCSD1	1	167666589	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	569224	167666589	81584032	30	73199											
PAPPA2	60676	broad.mit.edu	37	chr1	176679229	176679229	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccaaaggatacttggatCaatgggctacccgggcttac	10	9	10	12	1	1	0	1	0	0	0	2	2	2	2	2	4	3	2	2	4	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:176679229C>T	ENST00000367662.3	+	11	4732	c.3568C>T	c.(3568-3570)Caa>Taa	p.Q1190*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1190					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATACTTGGATCAATGGGCTAC	0.453													17	95					0	0	0	0	T	176679229	C	T	176679229	4	4	382	1	0	0	0	0	0	1	0	0	11504	827	29	2	3659	2	PAPPA2	1	176679229	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	9012640	176679229	72571392	31	73200											
LAMC2	3918	broad.mit.edu	37	chr1	183208591	183208591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggtttcagatgccagtGacaagacccagcaagcagaa	16	5	11	9	0	1	5	1	1	0	4	1	5	1	5	2	1	3	3	2	1	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:183208591G>C	ENST00000264144.4	+	20	3027	c.2962G>C	c.(2962-2964)Gac>Cac	p.D988H	LAMC2_ENST00000493293.1_Missense_Mutation_p.D988H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	988	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.D988H(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGATGCCAGTGACAAGACCCA	0.537													40	149					0	0	0	0	C	183208591	G	C	183208591	3	2	382	1	0	0	0	0	1	0	0	0	8668	1290	45	2	3040	2	LAMC2	1	183208591	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6529362	183208591	66042030	32	73201											
HMCN1	83872	broad.mit.edu	37	chr1	185987437	185987437	+	Frame_Shift_Del	DEL	C	C	-																															cctttatcggtgcatggcagCaaatactgctggagaccaca																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:185987437delC	ENST00000271588.4	+	34	5652	c.5423delC	c.(5422-5424)gafs	p.A1808fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.A1808fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1808	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCATGGCAGCAAATACTGCT	0.398													32	109	---	---	---	---					-	185987437	C	-	185987437	7	5	382	1	0	1	0	1	0	0	0	0	7270	710	25	0	5557	0	HMCN1	1	185987437	Frame_Shift_Del	DEL	C	TCGA-D6-A74Q-01A-11D-A34J-08	2778846	185987437	63263184	33	73202											
KCNT2	343450	broad.mit.edu	37	chr1	196342281	196342281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatacttactgccctctagaGgtatgaaccagtagtgtaat	12	13	8	8	0	1	2	0	1	1	1	1	2	1	2	2	1	4	3	2	1	8	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:196342281G>A	ENST00000367433.5	-	14	1493	c.1392C>T	c.(1390-1392)acC>acT	p.T464T	KCNT2_ENST00000294725.8_Silent_p.T464T|KCNT2_ENST00000367431.4_Silent_p.T464T|KCNT2_ENST00000451324.2_Silent_p.T75T|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	464	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCCCTCTAGAGGTATGAACCA	0.313													34	97					0	0	0	0	A	196342281	G	A	196342281	2	1	382	1	0	0	0	0	0	0	0	1	8145	987	35	4		4	KCNT2	1	196342281	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	10354844	196342281	52908340	34	73203											
NR5A2	2494	broad.mit.edu	37	chr1	200017398	200017398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaagccctcatccgaGccaatggacttaagctagaa	17	6	8	10	1	1	2	1	0	0	2	2	4	2	3	3	1	3	1	3	1	7	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:200017398G>T	ENST00000367362.3	+	5	808	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	NR5A2_ENST00000236914.3_Missense_Mutation_p.A142S|NR5A2_ENST00000544748.1_Missense_Mutation_p.A116S	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	188					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTCATCCGAGCCAATGGACT	0.502													37	141					1.57351e-24	2.07903e-24	1	0	T	200017398	G	T	200017398	3	4	382	1	0	0	0	0	1	0	0	0	10707	971	34	4	580	4	NR5A2	1	200017398	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3675117	200017398	49233223	35	73204											
CAMK1G	57172	broad.mit.edu	37	chr1	209782338	209782338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcaggctctgtggatacCccccattctatgaagaaacg	10	9	10	12	1	2	2	0	1	2	1	2	3	2	3	3	2	3	3	3	2	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:209782338C>G	ENST00000009105.1	+	8	894	c.649C>G	c.(649-651)Ccc>Gcc	p.P217A	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.P217A			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	217	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGTGGATACCCCCCATTCTA	0.512													24	122					0	0	0	0	G	209782338	C	G	209782338	3	3	382	1	0	0	0	0	1	0	0	0	2623	623	22	4	675	4	CAMK1G	1	209782338	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	9764940	209782338	39468283	36	73205											
USH2A	7399	broad.mit.edu	37	chr1	215963415	215963415	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaccttcatcatcattcCagttgaaatcttgtcagagc	12	14	5	10	0	5	2	4	1	1	1	6	2	6	2	2	0	2	1	2	0	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:215963415C>A	ENST00000366943.2	-	51	10554	c.10168G>T	c.(10168-10170)Gga>Tga	p.G3390*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.G3390*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3390					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCATCATTCCAGTTGAAATC	0.343										HNSCC(13;0.011)			15	79					1.05317e-09	1.18965e-09	1	0	A	215963415	C	A	215963415	4	1	382	1	0	0	0	0	0	1	0	0	17132	603	21	4	5528	4	USH2A	1	215963415	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6181077	215963415	33287206	37	73206											
USH2A	7399	broad.mit.edu	37	chr1	215990530	215990530	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagacacccaatcaatttGaagagatctgcaacagagag	16	7	10	8	0	2	4	1	1	1	3	2	7	2	4	1	1	2	1	1	1	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:215990530G>A	ENST00000366943.2	-	48	9765	c.9379C>T	c.(9379-9381)Caa>Taa	p.Q3127*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q3127*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3127	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATCAATTTGAAGAGATCTG	0.363										HNSCC(13;0.011)			6	96					0	0	0	0	A	215990530	G	A	215990530	4	1	382	1	0	0	0	0	0	1	0	0	17132	1299	45	2	6329	2	USH2A	1	215990530	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	27115	215990530	33260091	38	73207											
SLC30A10	55532	broad.mit.edu	37	chr1	220089061	220089061	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgagttgcagagcaacagTaagtccttctgctccagggg	9	9	14	9	0	1	2	0	1	1	1	3	2	3	2	2	3	4	5	2	3	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:220089061T>C	ENST00000366926.3	-	4	1349	c.1188A>G	c.(1186-1188)ttA>ttG	p.L396L	SLC30A10_ENST00000536446.1_Silent_p.L151L|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	396	Poly-Leu.				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGAGCAACAGTAAGTCCTTCT	0.532													57	57					0	0	0	0	C	220089061	T	C	220089061	2	2	382	1	0	0	0	0	0	0	0	1	14642	1635	57	5		5	SLC30A10	1	220089061	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	4098531	220089061	29161560	39	73208											
OBSCN	84033	broad.mit.edu	37	chr1	228556579	228556579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagcagaaccctgtgagcGaagcctccgacatttggtga	10	8	11	12	2	0	3	0	2	0	1	2	5	2	3	4	1	4	1	4	1	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:228556579G>A	ENST00000570156.2	+	100	22869	c.22795G>A	c.(22795-22797)Gaa>Aaa	p.E7599K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E6642K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4276K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6642	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGTGAGCGAAGCCTCCGA	0.612													6	104					0	0	0	0	A	228556579	G	A	228556579	3	1	382	1	0	0	0	0	1	0	0	0	10883	1059	37	1	21484	1	OBSCN	1	228556579	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	8467518	228556579	20694042	40	73209											
RYR2	6262	broad.mit.edu	37	chr1	237656291	237656291	+	Missense_Mutation	SNP	G	G	T																															ctcactctgtgtttgccacgGggttgcagtccgttctaacc																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237656291G>T	ENST00000366574.2	+	19	2182	c.1865G>T	c.(1864-1866)gGg>gTg	p.G622V	RYR2_ENST00000360064.6_Missense_Mutation_p.G620V|RYR2_ENST00000542537.1_Missense_Mutation_p.G606V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	622	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTGCCACGGGGTTGCAGTC	0.502													18	21					3.99206e-14	4.76761e-14	1	0	T	237656291	G	T	237656291	3	4	382	1	0	0	0	0	1	0	0	0	13854	1232	43	4	1939	4	RYR2	1	237656291	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	9099712	237656291	11594330	41	73210	990	2									
RYR2	6262	broad.mit.edu	37	chr1	237656292	237656292	+	Silent	SNP	G	G	C																															tcactctgtgtttgccacggGgttgcagtccgttctaacca																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237656292G>C	ENST00000366574.2	+	19	2183	c.1866G>C	c.(1864-1866)ggG>ggC	p.G622G	RYR2_ENST00000360064.6_Silent_p.G620G|RYR2_ENST00000542537.1_Silent_p.G606G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	622	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCCACGGGGTTGCAGTCC	0.498													18	21					0	0	0	0	C	237656292	G	C	237656292	2	2	382	1	0	0	0	0	0	0	0	1	13854	1219	43	4		4	RYR2	1	237656292	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1	237656292	11594329	42	73211	990	2									
RYR2	6262	broad.mit.edu	37	chr1	237947849	237947849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatgaccgtgaaggacatGgtcacggccttcttttcatc	10	11	10	10	2	3	3	2	2	1	1	4	4	3	4	2	3	0	0	2	3	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237947849G>T	ENST00000366574.2	+	90	13154	c.12837G>T	c.(12835-12837)atG>atT	p.M4279I	RYR2_ENST00000360064.6_Missense_Mutation_p.M4285I|RYR2_ENST00000542537.1_Missense_Mutation_p.M4263I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4279					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGGACATGGTCACGGCCT	0.463													13	23					9.31168e-06	9.86937e-06	1	0	T	237947849	G	T	237947849	3	4	382	1	0	0	0	0	1	0	0	0	13854	1348	47	4	13195	4	RYR2	1	237947849	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	291557	237947849	11302772	43	73212											
FMN2	56776	broad.mit.edu	37	chr1	240255867	240255867	+	Missense_Mutation	SNP	G	G	A																															tcctgggcctgccgaggctaGggtcgggggccggccgatcg																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:240255867G>A	ENST00000319653.9	+	1	688	c.458G>A	c.(457-459)aGg>aAg	p.R153K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	153					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCGAGGCTAGGGTCGGGGGC	0.672													7	15					0	0	0	0	A	240255867	G	A	240255867	3	1	382	1	0	0	0	0	1	0	0	0	5995	1000	35	4	460	4	FMN2	1	240255867	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2308018	240255867	8994754	44	73213	991	2									
FMN2	56776	broad.mit.edu	37	chr1	240255868	240255868	+	Missense_Mutation	SNP	G	G	T																															cctgggcctgccgaggctagGgtcgggggccggccgatcgc																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:240255868G>T	ENST00000319653.9	+	1	689	c.459G>T	c.(457-459)agG>agT	p.R153S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	153					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGAGGCTAGGGTCGGGGGCC	0.672													8	12					0.000157383	0.000163544	1	0	T	240255868	G	T	240255868	3	4	382	1	0	0	0	0	1	0	0	0	5995	1223	43	4	461	4	FMN2	1	240255868	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1	240255868	8994753	45	73214	991	2									
HNRNPU	3192	broad.mit.edu	37	chr1	245021350	245021350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaggcccctttggtcctCtaactcgatcctctaagggg	6	12	9	14	1	3	0	1	0	2	0	6	1	5	0	4	4	1	0	4	4	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:245021350C>T	ENST00000444376.2	-	7	1634	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	HNRNPU_ENST00000283179.9_Missense_Mutation_p.R486K	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	486					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTTTGGTCCTCTAACTCGATC	0.383													35	38					0	0	0	0	T	245021350	C	T	245021350	3	4	382	1	0	0	0	0	1	0	0	0	7323	913	32	2	1052	2	HNRNPU	1	245021350	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4765482	245021350	4229271	46	73215											
AHCTF1	25909	broad.mit.edu	37	chr1	247031021	247031021	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccaaacttctccaatttTagataacacattgttgatga	13	14	5	9	0	1	3	0	2	1	1	2	3	1	3	2	0	3	1	2	0	4	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:247031021T>A	ENST00000366508.1	-	25	3422	c.3286A>T	c.(3286-3288)Aaa>Taa	p.K1096*	AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.K1070*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.K1061*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1061					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTCCAATTTTAGATAACACA	0.358													30	88					0	0	0	0	A	247031021	T	A	247031021	4	1	382	1	0	0	0	0	0	1	0	0	408	1763	61	5	3667	5	AHCTF1	1	247031021	Nonsense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	2009671	247031021	2219600	47	73216											
OR2M4	26245	broad.mit.edu	37	chr1	248402522	248402522	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatctctctggcaggttgtGgaactcagatattcttctat	8	16	8	9	0	5	1	1	0	4	1	6	2	5	2	0	3	1	2	0	3	4	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:248402522G>T	ENST00000306687.1	+	1	292	c.292G>T	c.(292-294)Gga>Tga	p.G98*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCAGGTTGTGGAACTCAGAT	0.463													53	60					2.74695e-27	3.6794e-27	1	0	T	248402522	G	T	248402522	4	4	382	1	0	0	0	0	0	1	0	0	11083	1349	47	4	294	4	OR2M4	1	248402522	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1371501	248402522	848099	48	73217											
TSSC1	7260	broad.mit.edu	37	chr2	3196187	3196187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagtgcgtgcccttacttCtcttcagaacggtggtcctc	5	13	10	13	2	2	1	1	0	1	1	5	1	3	1	2	2	5	1	2	2	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:3196187C>G	ENST00000398659.4	-	9	1208	c.1068G>C	c.(1066-1068)gaG>gaC	p.E356D	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.E329D			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	329							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GCCCTTACTTCTCTTCAGAAC	0.562													4	61					0	0	0	0	G	3196187	C	G	3196187	3	3	382	1	0	0	0	0	1	0	0	0	16761	912	32	2	184	2	TSSC1	2	3196187	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		3196187	240003186	49	73218											
DNMT3A	1788	broad.mit.edu	37	chr2	25467060	25467060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttattagcgaagaacatctgGagccgggagggccagtcctc	10	8	13	10	2	1	1	0	0	1	1	3	4	2	3	3	3	3	0	3	3	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:25467060G>A	ENST00000264709.3	-	15	2152	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	DNMT3A_ENST00000321117.5_Silent_p.L605L|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Silent_p.L416L|DNMT3A_ENST00000402667.1_Silent_p.L382L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	605	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACATCTGGAGCCGGGAGG	0.627			"Mis, F, N, S"		AML								15	40					0	0	0	0	A	25467060	G	A	25467060	2	1	382	1	0	0	0	0	0	0	0	1	4712	1161	41	2		2	DNMT3A	2	25467060	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	22270873	25467060	217732313	50	73219											
EIF2B4	8890	broad.mit.edu	37	chr2	27591923	27591923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggccttaggaggtggtcctCcttgttccccttttcttgcc	2	16	10	13	0	1	0	0	0	1	0	4	1	4	1	6	4	1	1	6	4	1	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:27591923C>A	ENST00000493344.2	-	3	743	c.431G>T	c.(430-432)gGa>gTa	p.G144V	EIF2B4_ENST00000445933.2_Missense_Mutation_p.G122V|EIF2B4_ENST00000347454.4_Missense_Mutation_p.G123V|EIF2B4_ENST00000451130.2_Missense_Mutation_p.G143V			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	123					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGGTCCTCCTTGTTCCCC	0.562													8	128					5.4927e-09	6.15689e-09	1	0	A	27591923	C	A	27591923	3	1	382	1	0	0	0	0	1	0	0	0	5039	855	30	2	1243	2	EIF2B4	2	27591923	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2124863	27591923	215607450	51	73220											
FAM98A	25940	broad.mit.edu	37	chr2	33817226	33817226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgaaagatacgggcagttCatctcccctagtagcccact	11	9	9	12	1	2	2	1	1	1	1	3	2	2	2	3	1	2	3	3	1	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:33817226C>T	ENST00000403368.1	-	3	327	c.258G>A	c.(256-258)atG>atA	p.M86I	FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000238823.8_Missense_Mutation_p.M86I	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	86										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACGGGCAGTTCATCTCCCCTA	0.418													29	186					0	0	0	0	T	33817226	C	T	33817226	3	4	382	1	0	0	0	0	1	0	0	0	5701	826	29	2	1322	2	FAM98A	2	33817226	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6225303	33817226	209382147	52	73221											
THADA	63892	broad.mit.edu	37	chr2	43547613	43547613	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctttgcagatctgttGaggcagcaagtcaataggaa	11	12	11	7	0	2	2	1	1	1	1	3	3	3	3	1	2	2	4	1	2	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:43547613G>T	ENST00000405006.4	-	31	4761	c.4410C>A	c.(4408-4410)ctC>ctA	p.L1470L	THADA_ENST00000405975.2_Silent_p.L1470L|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Silent_p.L1151L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1470							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATCTGTTGAGGCAGCAAG	0.378													34	74					1.04594e-18	1.31361e-18	1	0	T	43547613	G	T	43547613	2	4	382	1	0	0	0	0	0	0	0	1	15934	1277	45	2		2	THADA	2	43547613	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	9730387	43547613	199651760	53	73222											
LHCGR	3973	broad.mit.edu	37	chr2	48915432	48915432	+	Frame_Shift_Del	DEL	G	G	-																															gtaattgctgacaccgacaaGgggcaacatagcaattagag																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:48915432delG	ENST00000294954.7	-	11	1525	c.1504delC	c.(1504-1506)ttfs	p.L502fs	LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.L440fs|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.L475fs|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	502			L -> P (in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation).		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACACCGACAAGGGGCAACATA	0.428													32	96	---	---	---	---					-	48915432	G	-	48915432	7	5	382	1	0	1	0	1	0	0	0	0	8816	1000	35	0	599	0	LHCGR	2	48915432	Frame_Shift_Del	DEL	G	TCGA-D6-A74Q-01A-11D-A34J-08	5367819	48915432	194283941	54	73223											
CEP68	23177	broad.mit.edu	37	chr2	65300160	65300160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgtacaggtgtcttgtCtcttcccccaatccactaac	7	15	6	13	0	2	0	0	0	2	0	5	0	4	0	3	1	2	1	3	1	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:65300160C>T	ENST00000537589.1	+	2	1646	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	CEP68_ENST00000546106.1_Intron|CEP68_ENST00000377990.2_Intron|CEP68_ENST00000260569.4_Intron|CEP68_ENST00000497039.1_Intron|RAB1A_ENST00000494188.1_Intron			Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	0					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTGTCTTGTCTCTTCCCCCA	0.433													9	22					0	0	0	0	T	65300160	C	T	65300160	3	4	382	1	0	0	0	0	1	0	0	0	3287	928	32	2		2	CEP68	2	65300160	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	16384728	65300160	177899213	55	73224											
ADD2	119	broad.mit.edu	37	chr2	70900122	70900122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgagccaggctcttctggGgcagtttctttctctcctga	4	14	12	11	0	4	2	0	2	4	0	6	2	5	2	2	4	1	3	2	4	0	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:70900122G>T	ENST00000355733.3	-	16	2288	c.1844C>A	c.(1843-1845)cCc>cAc	p.P615H	ADD2_ENST00000407644.2_Silent_p.A586A|ADD2_ENST00000264436.3_Silent_p.A586A	NM_017488.3	NP_059522.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCTCTTCTGGGGCAGTTTCTT	0.468													13	28					0.00136819	0.00139934	1	0	T	70900122	G	T	70900122	3	4	382	1	0	0	0	0	1	0	0	0	305	1232	43	4	430	4	ADD2	2	70900122	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	5599962	70900122	172299251	56	73225											
ALMS1	7840	broad.mit.edu	37	chr2	73830425	73830425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaggaaatgattcagaggtCcaaacggtaagaccaagaaa	19	5	11	6	1	1	4	1	1	0	3	2	6	2	5	2	3	1	1	2	3	6	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:73830425C>T	ENST00000264448.6	+	21	12464	c.12353C>T	c.(12352-12354)tCc>tTc	p.S4118F	ALMS1_ENST00000409009.1_Missense_Mutation_p.S4076F|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4118					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				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						ATTCAGAGGTCCAAACGGTAA	0.443													30	83					0	0	0	0	T	73830425	C	T	73830425	3	4	382	1	0	0	0	0	1	0	0	0	535	855	30	2	12435	2	ALMS1	2	73830425	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2930303	73830425	169368948	57	73226											
FER1L5	90342	broad.mit.edu	37	chr2	97368398	97368398	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccactaccactcgctgactGgggaggccgacttcaactgg	8	8	11	14	2	1	1	1	1	0	0	3	3	2	2	3	4	2	1	3	4	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:97368398G>T	ENST00000457909.1	+	0	4820							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTCGCTGACTGGGGAGGCCGA	0.582													10	16					7.48243e-07	8.06225e-07	1	0	T	97368398	G	T	97368398	1	4	382	0	1	0	0	0	0	0	0	0	5859	1348	47	4		4	FER1L5	2	97368398	RNA	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	23537973	97368398	145830975	58	73227											
AFF3	3899	broad.mit.edu	37	chr2	100210184	100210184	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgcggcgcttctcgcAggtcacggaggagcgcagct	5	6	16	14	7	2	0	1	0	1	0	3	2	2	2	1	4	3	4	1	4	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:100210184A>T	ENST00000317233.4	-	14	2174	c.1939T>A	c.(1939-1941)Tgc>Agc	p.C647S	AFF3_ENST00000409579.1_Missense_Mutation_p.C672S|AFF3_ENST00000409236.1_Missense_Mutation_p.C647S|AFF3_ENST00000356421.2_Missense_Mutation_p.C672S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	647					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGCTTCTCGCAGGTCACGGAG	0.637													32	46					0	0	0	0	T	100210184	A	T	100210184	3	4	382	1	0	0	0	0	1	0	0	0	358	188	7	5	1785	5	AFF3	2	100210184	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	2841786	100210184	142989189	59	73228											
LONRF2	164832	broad.mit.edu	37	chr2	100916302	100916302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaacgcctttttatcctCttcaaagtgtagacccagta	10	15	5	11	1	3	1	1	0	2	1	4	1	4	1	3	0	1	2	3	0	5	8			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:100916302C>T	ENST00000393437.3	-	5	1783	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E139K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	382					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTTTTATCCTCTTCAAAGTGT	0.428													34	110					0	0	0	0	T	100916302	C	T	100916302	3	4	382	1	0	0	0	0	1	0	0	0	8959	922	32	2	1152	2	LONRF2	2	100916302	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	706118	100916302	142283071	60	73229											
TBC1D8	11138	broad.mit.edu	37	chr2	101652552	101652552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgagcttccgaatcttctCtgtgcgaaacatacacacgg	11	10	8	12	4	2	0	0	0	2	0	4	3	3	0	1	1	5	1	1	1	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:101652552C>T	ENST00000409318.1	-	9	1661	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	TBC1D8_ENST00000376840.4_Missense_Mutation_p.E496K	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	496	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGAATCTTCTCTGTGCGAAAC	0.468													63	113					0	0	0	0	T	101652552	C	T	101652552	3	4	382	1	0	0	0	0	1	0	0	0	15719	922	32	2	1984	2	TBC1D8	2	101652552	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	736250	101652552	141546821	61	73230											
BUB1	699	broad.mit.edu	37	chr2	111431695	111431695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataactgatgaatcttgggtCattgtggtatttcttcttat	9	19	8	5	0	4	2	1	2	3	0	4	2	4	2	0	2	1	1	0	2	4	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:111431695C>T	ENST00000535254.1	-	2	200	c.133G>A	c.(133-135)Gac>Aac	p.D45N	BUB1_ENST00000409311.1_Missense_Mutation_p.D65N|BUB1_ENST00000302759.6_Missense_Mutation_p.D65N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	65	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATCTTGGGTCATTGTGGTAT	0.259													18	63					0	0	0	0	T	111431695	C	T	111431695	3	4	382	1	0	0	0	0	1	0	0	0	1579	826	29	2	3156	2	BUB1	2	111431695	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	9779143	111431695	131767678	62	73231											
PAX8	7849	broad.mit.edu	37	chr2	113984752	113984752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgccaccatgcctgcgatgGcagaggaggcatagctgccc	8	6	13	14	1	0	1	0	0	0	1	0	3	0	2	4	3	5	3	4	3	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:113984752G>A	ENST00000429538.3	-	10	1363	c.1169C>T	c.(1168-1170)gCc>gTc	p.A390V	AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P364S|PAX8_ENST00000263335.7_Missense_Mutation_p.P287S|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.P364S	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	390					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCTGCGATGGCAGAGGAGGC	0.612			T	PPARG	follicular thyroid		Thyroid dysgenesis						4	5					0	0	0	0	A	113984752	G	A	113984752	3	1	382	1	0	0	0	0	1	0	0	0	11556	1203	42	4	195	4	PAX8	2	113984752	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2553057	113984752	129214621	63	73232											
STEAP3	55240	broad.mit.edu	37	chr2	120005678	120005678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagcaccgcaagcagatcGggctgctcagcttcttctgc	8	9	10	14	2	3	1	1	0	2	1	4	1	3	1	1	1	6	6	1	1	2	3	rs139027075		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:120005678G>A	ENST00000354888.5	+	4	1420	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Missense_Mutation_p.G306R|STEAP3_ENST00000393110.2_Missense_Mutation_p.G316R|STEAP3_ENST00000393106.2_Missense_Mutation_p.G306R|STEAP3_ENST00000425223.2_Missense_Mutation_p.G306R|STEAP3_ENST00000450943.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393107.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393108.2_Missense_Mutation_p.G306R	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	306	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGCAGATCGGGCTGCTCAG	0.692													4	42					0	0	0	0	A	120005678	G	A	120005678	3	1	382	1	0	0	0	0	1	0	0	0	15369	1116	39	1	956	1	STEAP3	2	120005678	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6020926	120005678	123193695	64	73233											
EPB41L5	57669	broad.mit.edu	37	chr2	120850833	120850833	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttctgttagcatgtgctAcaaaacctgaagaacttagg	12	13	8	8	0	2	2	0	1	2	1	2	2	2	2	1	1	5	3	1	1	7	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:120850833A>T	ENST00000263713.5	+	14	1373	c.1159A>T	c.(1159-1161)Aca>Tca	p.T387S	EPB41L5_ENST00000331393.4_Missense_Mutation_p.T387S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.T387S|EPB41L5_ENST00000452780.1_Missense_Mutation_p.T387S|EPB41L5_ENST00000443124.1_Missense_Mutation_p.T387S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	387						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGCATGTGCTACAAAACCTGA	0.299													33	60					0	0	0	0	T	120850833	A	T	120850833	3	4	382	1	0	0	0	0	1	0	0	0	5195	391	14	5	1209	5	EPB41L5	2	120850833	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	845155	120850833	122348540	65	73234											
LRP1B	53353	broad.mit.edu	37	chr2	141665506	141665506	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccattgcagagtttctCtggctgcaggcagactgagg	7	12	12	10	0	1	3	0	1	1	2	3	3	2	3	1	3	2	5	1	3	0	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:141665506C>A	ENST00000389484.3	-	22	4431	c.3460G>T	c.(3460-3462)Gag>Tag	p.E1154*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1154	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGAGTTTCTCTGGCTGCAGG	0.448										TSP Lung(27;0.18)			40	113					3.38236e-24	4.45891e-24	1	0	A	141665506	C	A	141665506	4	1	382	1	0	0	0	0	0	1	0	0	9019	922	32	2	10619	2	LRP1B	2	141665506	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	20814673	141665506	101533867	66	73235											
LRP1B	53353	broad.mit.edu	37	chr2	141806652	141806652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtaattggtttctgcGtgaaagtctaaagcacgagg	12	12	12	5	2	2	2	0	1	2	1	2	3	2	2	0	2	2	3	0	2	5	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:141806652G>T	ENST00000389484.3	-	11	2663	c.1692C>A	c.(1690-1692)caC>caA	p.H564Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	564					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTTTCTGCGTGAAAGTCTA	0.433										TSP Lung(27;0.18)			68	160					1.76847e-28	2.39626e-28	1	0	T	141806652	G	T	141806652	3	4	382	1	0	0	0	0	1	0	0	0	9019	1136	40	3	12431	3	LRP1B	2	141806652	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	141146	141806652	101392721	67	73236											
LRP1B	53353	broad.mit.edu	37	chr2	142004915	142004915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaccataaacagcacattCatcttgatctaaaaaggaaa	18	10	5	8	0	3	1	1	1	2	0	3	2	3	2	1	1	3	2	1	1	7	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:142004915C>T	ENST00000389484.3	-	5	1443	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	158	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCACATTCATCTTGATCT	0.393										TSP Lung(27;0.18)			42	78					0	0	0	0	T	142004915	C	T	142004915	3	4	382	1	0	0	0	0	1	0	0	0	9019	835	29	2	13675	2	LRP1B	2	142004915	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	198263	142004915	101194458	68	73237											
PRPF40A	55660	broad.mit.edu	37	chr2	153519208	153519208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttttacaaatctctcaCggatctgaaaaattcagata	14	13	5	9	1	5	2	2	1	3	1	6	3	5	3	0	1	1	1	0	1	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:153519208C>A	ENST00000410080.1	-	21	2772	c.2231G>T	c.(2230-2232)cGt>cTt	p.R744L		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	771	FF 5.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						AAATCTCTCACGGATCTGAAA	0.294													8	28					7.48243e-07	8.06225e-07	1	0	A	153519208	C	A	153519208	3	1	382	1	0	0	0	0	1	0	0	0	12651	536	19	3	585	3	PRPF40A	2	153519208	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	11514293	153519208	89680165	69	73238											
NR4A2	4929	broad.mit.edu	37	chr2	157182791	157182791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaacgcattgcaacctgtGcaagaccaccccattgcaaa	14	6	7	14	2	0	1	0	0	0	1	0	2	0	1	4	0	5	4	4	0	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:157182791G>A	ENST00000339562.4	-	7	1773	c.1411C>T	c.(1411-1413)Cac>Tac	p.H471Y	NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.H471Y|NR4A2_ENST00000426264.1_Missense_Mutation_p.H408Y|NR4A2_ENST00000539077.1_Missense_Mutation_p.H482Y	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	471					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGCAACCTGTGCAAGACCACC	0.453													21	47					0	0	0	0	A	157182791	G	A	157182791	3	1	382	1	0	0	0	0	1	0	0	0	10704	1319	46	4	393	4	NR4A2	2	157182791	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3663583	157182791	86016582	70	73239											
BAZ2B	29994	broad.mit.edu	37	chr2	160287558	160287558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgttttattcagtttCattgaagttttctctccttc	7	21	6	7	0	3	1	2	1	1	0	6	2	4	1	1	0	0	4	1	0	3	9			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:160287558C>A	ENST00000392783.2	-	10	2505	c.2010G>T	c.(2008-2010)atG>atT	p.M670I	BAZ2B_ENST00000392782.1_Missense_Mutation_p.M668I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.M670I|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATTCAGTTTCATTGAAGTTT	0.408													16	109					4.7546e-09	5.3604e-09	1	0	A	160287558	C	A	160287558	3	1	382	1	0	0	0	0	1	0	0	0	1336	826	29	2	4608	2	BAZ2B	2	160287558	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3104767	160287558	82911815	71	73240											
FAP	2191	broad.mit.edu	37	chr2	163059581	163059581	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatatagtgaatatgtttGtagccatccttgtcactaaa	12	16	7	6	0	1	2	1	2	0	0	2	2	2	2	2	0	1	2	2	0	7	8			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:163059581G>T	ENST00000188790.4	-	13	1329	c.1122C>A	c.(1120-1122)taC>taA	p.Y374*	FAP_ENST00000443424.1_Nonsense_Mutation_p.Y349*	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	374					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAATATGTTTGTAGCCATCCT	0.358													16	39					6.49762e-13	7.63503e-13	1	0	T	163059581	G	T	163059581	4	4	382	1	0	0	0	0	0	1	0	0	5718	1372	48	4	1216	4	FAP	2	163059581	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2772023	163059581	80139792	72	73241											
SCN9A	6335	broad.mit.edu	37	chr2	167163022	167163022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacttatacccacttactcGacatttttggtccagtccgg	8	14	7	12	2	0	0	0	0	0	0	3	1	2	0	3	2	3	1	3	2	4	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:167163022G>A	ENST00000375387.4	-	4	808	c.468C>T	c.(466-468)gtC>gtT	p.V156V	SCN9A_ENST00000303354.6_Silent_p.V156V|SCN9A_ENST00000409672.1_Silent_p.V155V|SCN9A_ENST00000409435.1_Silent_p.V155V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	155						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCACTTACTCGACATTTTTGG	0.373													6	8					0	0	0	0	A	167163022	G	A	167163022	2	1	382	1	0	0	0	0	0	0	0	1	14012	1045	37	1		1	SCN9A	2	167163022	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4103441	167163022	76036351	73	73242											
XIRP2	129446	broad.mit.edu	37	chr2	168100189	168100189	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttcacagagaagacgttGaaaagggagatgtaagaaca	17	7	12	5	1	1	5	1	1	0	4	1	7	1	5	0	1	1	3	0	1	5	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:168100189G>C	ENST00000409195.1	+	9	2376	c.2287G>C	c.(2287-2289)Gaa>Caa	p.E763Q	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E763Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E541Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	588					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAGACGTTGAAAAGGGAGA	0.363													5	77					0	0	0	0	C	168100189	G	C	168100189	3	2	382	1	0	0	0	0	1	0	0	0	17526	1291	45	2	2317	2	XIRP2	2	168100189	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	937167	168100189	75099184	74	73243											
LRP2	4036	broad.mit.edu	37	chr2	170063179	170063179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagatgagagcacccacCattgttttccaagcaagggt	12	8	11	10	0	0	2	0	1	0	2	1	4	1	2	3	1	2	4	3	1	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:170063179C>A	ENST00000263816.3	-	39	7336	c.7051G>T	c.(7051-7053)Ggt>Tgt	p.G2351C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2351	EGF-like 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAGCACCCACCATTGTTTTCC	0.498													27	42					4.22769e-11	4.87939e-11	1	0	A	170063179	C	A	170063179	3	1	382	1	0	0	0	0	1	0	0	0	9020	594	21	4	7080	4	LRP2	2	170063179	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1962990	170063179	73136194	75	73244											
CDCA7	83879	broad.mit.edu	37	chr2	174228114	174228114	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattctgtgactgattccaActccgattcagaagatgaaa	14	11	8	8	1	2	5	1	3	1	2	4	7	4	5	2	0	1	0	2	0	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:174228114A>G	ENST00000306721.3	+	4	648	c.545A>G	c.(544-546)aAc>aGc	p.N182S	CDCA7_ENST00000347703.3_Missense_Mutation_p.N103S|CDCA7_ENST00000410019.3_Missense_Mutation_p.N61S|CDCA7_ENST00000392567.2_Missense_Mutation_p.N103S|CDCA7_ENST00000410101.3_Missense_Mutation_p.N138S	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	103	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACTGATTCCAACTCCGATTCA	0.443													38	73					0	0	0	0	G	174228114	A	G	174228114	3	3	382	1	0	0	0	0	1	0	0	0	3119	43	2	5	559	5	CDCA7	2	174228114	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	4164935	174228114	68971259	76	73245											
TTN	7273	broad.mit.edu	37	chr2	179574494	179574494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttataggttgggaaccagCcacacgtccctcaagtttga	11	10	10	10	1	1	1	1	1	0	0	2	2	2	2	3	2	2	3	3	2	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:179574494C>G	ENST00000589042.1	-	99	28776	c.28552G>C	c.(28552-28554)Gct>Cct	p.A9518P	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8274P|TTN_ENST00000591111.1_Missense_Mutation_p.A9201P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9201							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGAACCAGCCACACGTCCC	0.393													64	118					0	0	0	0	G	179574494	C	G	179574494	3	3	382	1	0	0	0	0	1	0	0	0	16831	739	26	4	76033	4	TTN	2	179574494	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5346380	179574494	63624879	77	73246											
TTN	7273	broad.mit.edu	37	chr2	179641598	179641598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctttgctctatatgtccCccgtgggatgattaactttc	6	16	7	12	1	1	1	0	1	1	0	4	2	3	2	3	1	2	1	3	1	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:179641598C>T	ENST00000589042.1	-	28	5217	c.4993G>A	c.(4993-4995)Ggg>Agg	p.G1665R	TTN_ENST00000342175.6_Missense_Mutation_p.G1619R|TTN_ENST00000359218.5_Missense_Mutation_p.G1619R|TTN_ENST00000460472.2_Missense_Mutation_p.G1619R|TTN_ENST00000342992.6_Missense_Mutation_p.G1665R|TTN_ENST00000360870.5_Missense_Mutation_p.G1665R|TTN_ENST00000591111.1_Missense_Mutation_p.G1665R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1409							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATATGTCCCCCGTGGGATG	0.458													37	79					0	0	0	0	T	179641598	C	T	179641598	3	4	382	1	0	0	0	0	1	0	0	0	16831	623	22	4	106335	4	TTN	2	179641598	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	67104	179641598	63557775	78	73247											
SDPR	8436	broad.mit.edu	37	chr2	192711642	192711642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttttcggcctgtgcagcgtCctctcccatggctaggcagg	4	11	12	14	2	1	0	0	0	1	0	4	0	2	0	3	4	2	3	3	4	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:192711642C>G	ENST00000304141.4	-	1	339	c.10G>C	c.(10-12)Gac>Cac	p.D4H	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	4						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGTGCAGCGTCCTCTCCCATG	0.622													21	41					0	0	0	0	G	192711642	C	G	192711642	3	3	382	1	0	0	0	0	1	0	0	0	14057	855	30	2	1275	2	SDPR	2	192711642	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	13070044	192711642	50487731	79	73248											
MAP2	4133	broad.mit.edu	37	chr2	210558199	210558199	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggacaggaacctatactTactgaaaaggaaactgagct	16	8	10	7	0	0	2	0	2	0	0	0	5	0	5	1	3	5	1	1	3	7	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:210558199T>A	ENST00000360351.4	+	7	1811	c.1305T>A	c.(1303-1305)ctT>ctA	p.L435L	MAP2_ENST00000447185.1_Silent_p.L431L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	435					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AACCTATACTTACTGAAAAGG	0.428													4	83					0	0	0	0	A	210558199	T	A	210558199	2	1	382	1	0	0	0	0	0	0	0	1	9304	1741	61	5		5	MAP2	2	210558199	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	17846557	210558199	32641174	80	73249											
ATIC	471	broad.mit.edu	37	chr2	216214289	216214289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtacattgcggctccctccGgttctgctgctgacaaagtt	6	12	10	13	3	1	1	0	1	1	0	3	1	3	1	2	2	4	6	2	2	2	4	rs149999349		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:216214289G>T	ENST00000435675.1	+	15	2078	c.1687G>T	c.(1687-1689)Ggt>Tgt	p.G563C	ATIC_ENST00000540518.1_Missense_Mutation_p.G505C|ATIC_ENST00000236959.9_Missense_Mutation_p.G564C			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	564					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	p.G564S(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GGCTCCCTCCGGTTCTGCTGC	0.483			T	ALK	ALCL								28	68					7.65355e-07	8.23145e-07	1	0	T	216214289	G	T	216214289	3	4	382	1	0	0	0	0	1	0	0	0	1109	1116	39	3	1752	3	ATIC	2	216214289	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	5656090	216214289	26985084	81	73250											
SPHKAP	80309	broad.mit.edu	37	chr2	228884145	228884145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgaggtttcaacagaGacttccatctcaggccagga	11	10	10	10	0	2	2	2	1	1	1	4	4	3	3	2	3	2	2	2	3	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:228884145G>T	ENST00000392056.3	-	7	1471	c.1425C>A	c.(1423-1425)gtC>gtA	p.V475V	SPHKAP_ENST00000344657.5_Silent_p.V475V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	475						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTCAACAGAGACTTCCATCT	0.537													24	51					1.22574e-08	1.36609e-08	1	0	T	228884145	G	T	228884145	2	4	382	1	0	0	0	0	0	0	0	1	15138	929	33	2		2	SPHKAP	2	228884145	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	12669856	228884145	14315228	82	73251											
SP110	3431	broad.mit.edu	37	chr2	231065661	231065661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctttccttcattcatttCtgaagtgccatcaatgatct	8	17	4	12	0	6	2	3	2	3	0	7	2	7	2	3	0	1	0	3	0	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:231065661C>G	ENST00000258381.6	-	10	1146	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	SP110_ENST00000540870.1_Missense_Mutation_p.E363Q|SP110_ENST00000338556.3_Missense_Mutation_p.E59Q|SP110_ENST00000358662.4_Missense_Mutation_p.E357Q|SP110_ENST00000392048.3_Missense_Mutation_p.E355Q|SP110_ENST00000258382.5_Missense_Mutation_p.E357Q	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	357					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			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)		TCATTCATTTCTGAAGTGCCA	0.473													5	173					0	0	0	0	G	231065661	C	G	231065661	3	3	382	1	0	0	0	0	1	0	0	0	15049	922	32	2	1176	2	SP110	2	231065661	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2181516	231065661	12133712	83	73252											
AGAP1	116987	broad.mit.edu	37	chr2	236957853	236957853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaggtgatgtcatccatcgGgaacgagctagccaacagcg	12	6	12	11	3	1	1	1	1	0	0	3	3	2	2	2	2	5	1	2	2	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:236957853G>T	ENST00000409538.1	+	15	3174	c.2678G>T	c.(2677-2679)gGg>gTg	p.G893V	AGAP1_ENST00000428334.2_Missense_Mutation_p.G520V|AGAP1_ENST00000304032.7_Missense_Mutation_p.G681V|AGAP1_ENST00000336665.5_Missense_Mutation_p.G628V			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	681					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCATCCATCGGGAACGAGCTA	0.577													34	76					4.4194e-11	5.09059e-11	1	0	T	236957853	G	T	236957853	3	4	382	1	0	0	0	0	1	0	0	0	366	1232	43	4	2104	4	AGAP1	2	236957853	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	5892192	236957853	6241520	84	73253											
AGAP1	116987	broad.mit.edu	37	chr2	236957875	236957875	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgagctagccaacagcgtCtgggaagagagcagccaggg	13	3	15	10	2	1	1	0	0	1	1	1	4	1	2	2	2	7	2	2	2	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:236957875C>A	ENST00000409538.1	+	15	3196	c.2700C>A	c.(2698-2700)gtC>gtA	p.V900V	AGAP1_ENST00000428334.2_Silent_p.V527V|AGAP1_ENST00000304032.7_Silent_p.V688V|AGAP1_ENST00000336665.5_Silent_p.V635V			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	688					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAACAGCGTCTGGGAAGAGA	0.572													30	68					5.77227e-19	7.28079e-19	1	0	A	236957875	C	A	236957875	2	1	382	1	0	0	0	0	0	0	0	1	366	900	32	2		2	AGAP1	2	236957875	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	22	236957875	6241498	85	73254											
IQCA1	79781	broad.mit.edu	37	chr2	237396694	237396694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcactttcttgccaagCatcttggattgctttgctct	5	18	7	11	0	5	0	1	0	4	0	5	1	5	1	1	1	4	3	1	1	1	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:237396694C>A	ENST00000409907.3	-	4	871	c.597G>T	c.(595-597)atG>atT	p.M199I	IQCA1_ENST00000431676.2_Missense_Mutation_p.M199I|IQCA1_ENST00000309507.5_Missense_Mutation_p.M195I			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	199				M -> I (in Ref. 3; BAB70798).			ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTGCCAAGCATCTTGGATT	0.478													3	17					6.4e-05	6.69821e-05	1	0	A	237396694	C	A	237396694	3	1	382	1	0	0	0	0	1	0	0	0	7855	710	25	4	1935	4	IQCA1	2	237396694	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	438819	237396694	5802679	86	73255											
ANKMY1	51281	broad.mit.edu	37	chr2	241465791	241465791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgctctttgggcccaCagggtgcaaagccactgcgc	9	8	12	12	1	1	0	0	0	1	0	1	0	1	0	2	2	4	3	2	2	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:241465791C>A	ENST00000391987.1	-	6	1124	c.758G>T	c.(757-759)tGt>tTt	p.C253F	ANKMY1_ENST00000401804.1_Missense_Mutation_p.C342F|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.C253F|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405523.3_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	253							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTTGGGCCCACAGGGTGCAAA	0.532													40	53					2.54651e-27	3.42664e-27	1	0	A	241465791	C	A	241465791	3	1	382	1	0	0	0	0	1	0	0	0	634	478	17	4	2119	4	ANKMY1	2	241465791	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4069097	241465791	1733582	87	73256											
CPNE9	151835	broad.mit.edu	37	chr3	9760228	9760228	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctatttccagagcctgCgcacagtgcagctctatggg	9	9	12	11	1	1	2	0	0	1	2	2	2	2	2	2	1	5	4	2	1	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:9760228C>G	ENST00000383832.3	+	17	1373	c.1183C>G	c.(1183-1185)Cgc>Ggc	p.R395G	CPNE9_ENST00000383831.3_Missense_Mutation_p.R395G	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	395	VWFA.							p.R395C(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)					CCAGAGCCTGCGCACAGTGCA	0.567													33	18					0	0	0	0	G	9760228	C	G	9760228	3	3	382	1	0	0	0	0	1	0	0	0	3849	768	27	3	1245	3	CPNE9	3	9760228	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		9760228	188262202	88	73257											
HDAC11	79885	broad.mit.edu	37	chr3	13545693	13545693	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccctccaggagcaccTgcccgacgtggtggtataca	10	7	11	13	2	0	0	0	0	0	0	2	3	2	1	4	3	3	2	4	3	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:13545693T>A	ENST00000295757.3	+	9	932	c.749T>A	c.(748-750)cTg>cAg	p.L250Q	HDAC11_ENST00000433119.1_Missense_Mutation_p.C208S|HDAC11_ENST00000437379.2_Missense_Mutation_p.L222Q|HDAC11_ENST00000404040.1_Missense_Mutation_p.L150Q|HDAC11_ENST00000402259.1_Missense_Mutation_p.L84Q|HDAC11_ENST00000404548.1_Missense_Mutation_p.C118S|HDAC11_ENST00000446613.2_Missense_Mutation_p.L58Q|HDAC11_ENST00000405025.1_Missense_Mutation_p.C90S|HDAC11_ENST00000402271.1_Missense_Mutation_p.L171Q|HDAC11_ENST00000522202.1_Missense_Mutation_p.L199Q	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	250	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAGGAGCACCTGCCCGACGTG	0.617													12	22					0	0	0	0	A	13545693	T	A	13545693	3	1	382	1	0	0	0	0	1	0	0	0	7056	1580	55	5	783	5	HDAC11	3	13545693	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	3785465	13545693	184476737	89	73258											
FBLN2	2199	broad.mit.edu	37	chr3	13670697	13670697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacaggtgtgcaccgctGcggtgagggccaagtgtgcc	7	7	17	10	2	0	2	0	2	0	1	0	3	0	2	3	3	3	2	3	3	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:13670697G>T	ENST00000404922.3	+	13	2866	c.2747G>T	c.(2746-2748)tGc>tTc	p.C916F	FBLN2_ENST00000492059.1_Missense_Mutation_p.C916F|FBLN2_ENST00000535798.1_Missense_Mutation_p.C895F|FBLN2_ENST00000295760.7_Missense_Mutation_p.C869F	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	912	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.C916F(1)|p.C335F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTGCACCGCTGCGGTGAGGGC	0.652													7	11					1.12685e-05	1.19218e-05	1	0	T	13670697	G	T	13670697	3	4	382	1	0	0	0	0	1	0	0	0	5744	1319	46	4	1483	4	FBLN2	3	13670697	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	125004	13670697	184351733	90	73259											
ZNF385D	79750	broad.mit.edu	37	chr3	21478633	21478633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatctcagttgtcataaCactgcttttgcggatttcca	8	15	9	9	1	2	1	2	1	1	0	4	2	3	2	1	2	3	2	1	2	1	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:21478633C>A	ENST00000281523.2	-	5	1020	c.502G>T	c.(502-504)Gtt>Ttt	p.V168F	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	168	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding	p.V168I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTGTCATAACACTGCTTTTG	0.443													52	51					5.57489e-27	7.43319e-27	1	0	A	21478633	C	A	21478633	3	1	382	1	0	0	0	0	1	0	0	0	17973	478	17	4	701	4	ZNF385D	3	21478633	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7807936	21478633	176543797	91	73260											
SCN10A	6336	broad.mit.edu	37	chr3	38768458	38768458	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgccagggccacctgcaggTtgttcacctccccatcgtcc	5	9	10	17	1	1	0	1	0	0	0	4	0	3	0	7	2	2	3	7	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:38768458T>A	ENST00000449082.2	-	16	2725	c.2726A>T	c.(2725-2727)aAc>aTc	p.N909I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	909					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCTGCAGGTTGTTCACCTC	0.562													49	49					0	0	0	0	A	38768458	T	A	38768458	3	1	382	1	0	0	0	0	1	0	0	0	13999	1725	60	5	3192	5	SCN10A	3	38768458	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	17289825	38768458	159253972	92	73261											
TTC21A	199223	broad.mit.edu	37	chr3	39159567	39159567	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcttccttcagaatcctaGaaaaagatgagagcaatatt	15	12	6	8	0	2	4	1	1	1	4	4	5	4	4	2	0	1	1	2	0	6	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:39159567G>C	ENST00000301819.6	+	7	901	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q	TTC21A_ENST00000431162.2_Missense_Mutation_p.E242Q|TTC21A_ENST00000440121.1_Missense_Mutation_p.E201Q	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	242							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGAATCCTAGAAAAAGATGA	0.418													45	45					0	0	0	0	C	39159567	G	C	39159567	3	2	382	1	0	0	0	0	1	0	0	0	16783	943	33	2	750	2	TTC21A	3	39159567	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	391109	39159567	158862863	93	73262											
ULK4	54986	broad.mit.edu	37	chr3	41977361	41977361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtaatccactaatcaggtCaattccaaattctctcacaa	15	12	3	11	0	4	0	3	0	1	0	7	0	6	0	2	1	0	1	2	1	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:41977361C>G	ENST00000301831.4	-	4	772	c.310G>C	c.(310-312)Gac>Cac	p.D104H	ULK4_ENST00000420927.1_Missense_Mutation_p.D104H	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	104	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTAATCAGGTCAATTCCAAAT	0.353													27	38					0	0	0	0	G	41977361	C	G	41977361	3	3	382	1	0	0	0	0	1	0	0	0	17074	826	29	2	3653	2	ULK4	3	41977361	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2817794	41977361	156045069	94	73263											
COL7A1	1294	broad.mit.edu	37	chr3	48605584	48605584	+	Missense_Mutation	SNP	C	C	A																															ctcctcggataccaggcactCcatcctttcctggggatccc																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:48605584C>A	ENST00000328333.8	-	105	7921	c.7814G>T	c.(7813-7815)gGa>gTa	p.G2605V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2573V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2605	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCAGGCACTCCATCCTTTCC	0.532													13	29					7.93312e-07	8.51644e-07	1	0	A	48605584	C	A	48605584	3	1	382	1	0	0	0	0	1	0	0	0	3734	855	30	2	1076	2	COL7A1	3	48605584	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6628223	48605584	149416846	95	73264	992	2									
COL7A1	1294	broad.mit.edu	37	chr3	48605585	48605585	+	Nonsense_Mutation	SNP	C	C	A																															tcctcggataccaggcactcCatcctttcctggggatccct																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:48605585C>A	ENST00000328333.8	-	105	7920	c.7813G>T	c.(7813-7815)Gga>Tga	p.G2605*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G2573*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2605	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGCACTCCATCCTTTCCT	0.537													12	28					4.3838e-07	4.76749e-07	1	0	A	48605585	C	A	48605585	4	1	382	1	0	0	0	0	0	1	0	0	3734	603	21	4	1077	4	COL7A1	3	48605585	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1	48605585	149416845	96	73265	992	2									
UBA7	7318	broad.mit.edu	37	chr3	49850743	49850743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacgacgacctggacagctCtgttgagctgagccaagagc	10	6	13	12	2	1	3	0	2	1	1	1	6	1	4	2	1	4	4	2	1	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:49850743C>G	ENST00000333486.3	-	3	457	c.299G>C	c.(298-300)aGa>aCa	p.R100T	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	100	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGACAGCTCTGTTGAGCTG	0.592													4	34					0	0	0	0	G	49850743	C	G	49850743	3	3	382	1	0	0	0	0	1	0	0	0	16929	913	32	2	2827	2	UBA7	3	49850743	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1245158	49850743	148171687	97	73266											
RBM5	10181	broad.mit.edu	37	chr3	50142980	50142980	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgtctcatttacccctAgcgatcattcttcggaacat	9	15	5	12	2	3	0	2	0	2	0	5	2	3	1	2	1	3	0	2	1	3	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:50142980A>G	ENST00000347869.3	+	10	869		c.e10-1			NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTACCCCTAGCGATCATTC	0.443													58	76					0	0	0	0	G	50142980	A	G	50142980	5	3	382	1	0	0	0	0	0	0	1	0	13225	434	15	5	727	5	RBM5	3	50142980	Splice_Site	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	292237	50142980	147879450	98	73267											
ALAS1	211	broad.mit.edu	37	chr3	52245381	52245381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtcctatgctgctggcttCatcttcaccacctctctgcc	4	13	7	17	1	4	0	2	0	2	0	6	0	5	0	4	2	3	3	4	2	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:52245381C>T	ENST00000394965.2	+	10	1773	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	ALAS1_ENST00000484952.1_Silent_p.F471F|ALAS1_ENST00000469224.1_Silent_p.F471F|ALAS1_ENST00000310271.2_Silent_p.F471F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	471					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGGCTTCATCTTCACCA	0.597													4	33					0	0	0	0	T	52245381	C	T	52245381	2	4	382	1	0	0	0	0	0	0	0	1	484	825	29	2		2	ALAS1	3	52245381	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2102401	52245381	145777049	99	73268											
DNAH1	25981	broad.mit.edu	37	chr3	52406980	52406980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgatgacctgaacatgcCggccctggagacctacggtg	9	7	12	13	3	0	3	0	2	0	1	1	5	0	3	4	3	3	0	4	3	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:52406980C>A	ENST00000420323.2	+	44	7157	c.6896C>A	c.(6895-6897)cCg>cAg	p.P2299Q		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2299	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAACATGCCGGCCCTGGAG	0.617													27	36					7.01153e-11	8.02889e-11	1	0	A	52406980	C	A	52406980	3	1	382	1	0	0	0	0	1	0	0	0	4634	652	23	3	7066	3	DNAH1	3	52406980	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	161599	52406980	145615450	100	73269											
TMF1	7110	broad.mit.edu	37	chr3	69088066	69088066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccatgtctacctgaagaCggccaagatctttctcttgg	9	12	8	12	1	3	3	0	1	3	2	5	3	4	3	3	2	1	0	3	2	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:69088066C>T	ENST00000543976.1	-	7	2177	c.1931G>A	c.(1930-1932)cGt>cAt	p.R644H	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R641H|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	641					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TACCTGAAGACGGCCAAGATC	0.383													45	51					0	0	0	0	T	69088066	C	T	69088066	3	4	382	1	0	0	0	0	1	0	0	0	16322	536	19	1	1403	1	TMF1	3	69088066	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	16681086	69088066	128934364	101	73270											
LMOD3	56203	broad.mit.edu	37	chr3	69168663	69168663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgttttgatgtgcttGtttttcttcattgcattgac	6	21	8	6	0	2	3	1	3	1	0	2	3	2	3	0	0	2	4	0	0	1	8			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:69168663G>C	ENST00000420581.2	-	2	1022	c.843C>G	c.(841-843)aaC>aaG	p.N281K	LMOD3_ENST00000475434.1_Missense_Mutation_p.N281K|LMOD3_ENST00000489031.1_Missense_Mutation_p.N281K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	281						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGATGTGCTTGTTTTTCTTCA	0.388													63	72					0	0	0	0	C	69168663	G	C	69168663	3	2	382	1	0	0	0	0	1	0	0	0	8913	1368	48	4	847	4	LMOD3	3	69168663	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	80597	69168663	128853767	102	73271											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572575	101572575	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacacttcactgccattctCaaacatgggaaatccaatga	16	9	5	11	0	2	1	2	1	1	0	4	2	3	2	2	1	3	0	2	1	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:101572575C>G	ENST00000326172.5	+	5	1320	c.1205C>G	c.(1204-1206)tCa>tGa	p.S402*	NFKBIZ_ENST00000394054.2_Nonsense_Mutation_p.S302*|NFKBIZ_ENST00000326151.5_Nonsense_Mutation_p.S280*	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CTGCCATTCTCAAACATGGGA	0.498													10	83					0	0	0	0	G	101572575	C	G	101572575	4	3	382	1	0	0	0	0	0	1	0	0	10453	838	29	2	1223	2	NFKBIZ	3	101572575	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	32403912	101572575	96449855	103	73272											
ALCAM	214	broad.mit.edu	37	chr3	105264151	105264151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgcacaatatctgctaGcaggaatgcaactgtggtat	12	11	10	8	0	2	0	1	0	1	0	2	1	2	1	0	2	5	5	0	2	6	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:105264151G>T	ENST00000306107.5	+	9	1576	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	ALCAM_ENST00000389927.4_Missense_Mutation_p.S81I|ALCAM_ENST00000486979.2_Missense_Mutation_p.S308I|ALCAM_ENST00000472644.2_Missense_Mutation_p.S359I|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	359	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATATCTGCTAGCAGGAATGCA	0.383													23	78					1.64293e-13	1.95015e-13	1	0	T	105264151	G	T	105264151	3	4	382	1	0	0	0	0	1	0	0	0	487	971	34	4	1110	4	ALCAM	3	105264151	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3691576	105264151	92758279	104	73273											
DPPA2	151871	broad.mit.edu	37	chr3	109023481	109023481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaaccctttgtgtctgccGagagaagtctgccatggacc	8	9	10	14	1	2	1	0	0	2	1	2	4	2	2	5	1	3	0	5	1	2	1	rs151045476	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:109023481G>A	ENST00000478945.1	-	7	941	c.695C>T	c.(694-696)tCg>tTg	p.S232L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	232						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGTCTGCCGAGAGAAGTCT	0.512													5	75					0	0	0	0	A	109023481	G	A	109023481	3	1	382	1	0	0	0	0	1	0	0	0	4770	1059	37	1	209	1	DPPA2	3	109023481	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3759330	109023481	88998949	105	73274											
DPPA4	55211	broad.mit.edu	37	chr3	109047884	109047884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaactgcaggtgaacccaaCcatctgtgtctgcagggaga	12	7	12	10	0	2	2	0	1	2	1	2	4	2	2	2	2	5	2	2	2	3	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:109047884C>A	ENST00000335658.6	-	6	785	c.731G>T	c.(730-732)gGt>gTt	p.G244V		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	244						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTGAACCCAACCATCTGTGTC	0.522													14	27					0.000308642	0.000318457	1	0	A	109047884	C	A	109047884	3	1	382	1	0	0	0	0	1	0	0	0	4772	507	18	4	191	4	DPPA4	3	109047884	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	24403	109047884	88974546	106	73275											
NEK11	79858	broad.mit.edu	37	chr3	130889723	130889723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatgccacatctgaccttgGataccatggtatgtgtttgc	8	13	11	9	0	1	1	0	1	1	0	1	3	1	3	3	3	3	2	3	3	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:130889723G>C	ENST00000383366.4	+	14	1684	c.1391G>C	c.(1390-1392)gGa>gCa	p.G464A	NEK11_ENST00000510688.1_Missense_Mutation_p.G464A|NEK11_ENST00000510769.1_Missense_Mutation_p.G359A|NEK11_ENST00000356918.4_Missense_Mutation_p.G464A|NEK11_ENST00000429253.2_Missense_Mutation_p.G464A|NEK11_ENST00000511262.1_Missense_Mutation_p.G464A|NEK11_ENST00000412440.2_Missense_Mutation_p.G280A|NEK11_ENST00000507910.1_Missense_Mutation_p.G464A|NEK11_ENST00000508196.1_Missense_Mutation_p.G464A	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	464					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCTGACCTTGGATACCATGGT	0.498													67	142					0	0	0	0	C	130889723	G	C	130889723	3	2	382	1	0	0	0	0	1	0	0	0	10393	1174	41	2	1437	2	NEK11	3	130889723	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	21841839	130889723	67132707	107	73276											
ZIC1	7545	broad.mit.edu	37	chr3	147127967	147127967	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcgcgtcccgccaccActccgcgggcgacgtggccg	3	6	14	18	8	0	0	0	0	0	0	2	1	2	0	5	3	0	0	5	3	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:147127967A>T	ENST00000282928.4	+	1	797	c.68A>T	c.(67-69)cAc>cTc	p.H23L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	23					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TCCCGCCACCACTCCGCGGGC	0.721													17	20					0	0	0	0	T	147127967	A	T	147127967	3	4	382	1	0	0	0	0	1	0	0	0	17773	159	6	5	70	5	ZIC1	3	147127967	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	16238244	147127967	50894463	108	73277											
AGTR1	185	broad.mit.edu	37	chr3	148459268	148459268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtagccaaagtcacctGcatcatcatttggctgctgg	8	12	10	11	0	3	0	3	0	0	0	3	0	3	0	2	2	3	5	2	2	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:148459268G>A	ENST00000542281.1	+	4	892	c.446G>A	c.(445-447)tGc>tAc	p.C149Y	AGTR1_ENST00000402260.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000349243.3_Missense_Mutation_p.C149Y|AGTR1_ENST00000418473.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000474935.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000404754.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000461609.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000497524.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000475347.1_Missense_Mutation_p.C149Y	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	149					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAGTCACCTGCATCATCATT	0.453													73	131					0	0	0	0	A	148459268	G	A	148459268	3	1	382	1	0	0	0	0	1	0	0	0	401	1319	46	4	448	4	AGTR1	3	148459268	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1331301	148459268	49563162	109	73278											
P2RY1	5028	broad.mit.edu	37	chr3	152554073	152554073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggctcaaaaagaagaatGcgatctgtatcagcgtgctg	12	8	12	9	3	3	2	2	0	1	2	3	3	3	2	1	1	3	3	1	1	5	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:152554073G>A	ENST00000305097.3	+	1	1338	c.502G>A	c.(502-504)Gcg>Acg	p.A168T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	168					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAAGAAGAATGCGATCTGTAT	0.552													31	51					0	0	0	0	A	152554073	G	A	152554073	3	1	382	1	0	0	0	0	1	0	0	0	11417	1319	46	4	504	4	P2RY1	3	152554073	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4094805	152554073	45468357	110	73279											
LEKR1	389170	broad.mit.edu	37	chr3	156763172	156763172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtagagaatgtgaagaacGctttgaactgacagaggctt	13	9	13	6	2	0	6	0	3	0	3	0	7	0	6	0	1	2	3	0	1	5	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:156763172G>T	ENST00000470811.1	+	14	2135	c.800G>T	c.(799-801)cGc>cTc	p.R267L	LEKR1_ENST00000356539.4_Missense_Mutation_p.R571L			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	82										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGTGAAGAACGCTTTGAACTG	0.438													28	55					4.22769e-11	4.87939e-11	1	0	T	156763172	G	T	156763172	3	4	382	1	0	0	0	0	1	0	0	0	8770	1087	38	3	1758	3	LEKR1	3	156763172	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4209099	156763172	41259258	111	73280											
WDR49	151790	broad.mit.edu	37	chr3	167272550	167272550	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccatcttgcccaacatTtagtgtatggtgacaatatc	11	13	7	10	0	1	1	0	1	1	0	3	1	2	1	2	1	3	2	2	1	5	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:167272550T>A	ENST00000308378.3	-	6	993	c.688A>T	c.(688-690)Aat>Tat	p.N230Y	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.N55Y|WDR49_ENST00000453925.2_Missense_Mutation_p.N283Y	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	230										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGCCCAACATTTAGTGTATGG	0.368													35	112					0	0	0	0	A	167272550	T	A	167272550	3	1	382	1	0	0	0	0	1	0	0	0	17398	1841	64	5	1445	5	WDR49	3	167272550	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	10509378	167272550	30749880	112	73281											
SLC7A14	57709	broad.mit.edu	37	chr3	170198740	170198740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtgtgctcctcagacAagaacttgacaaaaccatca	13	10	7	11	0	3	3	2	1	1	2	4	3	4	3	2	1	3	1	2	1	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:170198740A>G	ENST00000231706.4	-	7	1646	c.1331T>C	c.(1330-1332)tTg>tCg	p.L444S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	444						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTCCTCAGACAAGAACTTGAC	0.517													7	62					0	0	0	0	G	170198740	A	G	170198740	3	3	382	1	0	0	0	0	1	0	0	0	14784	131	5	5	992	5	SLC7A14	3	170198740	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	2926190	170198740	27823690	113	73282											
PLD1	5337	broad.mit.edu	37	chr3	171452730	171452730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcatctctcgaggctcCtctctgacgttttgcctcct	3	14	9	15	2	2	1	0	1	2	0	7	2	4	1	3	2	1	3	3	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:171452730C>A	ENST00000356327.5	-	5	535	c.465G>T	c.(463-465)gaG>gaT	p.E155D	PLD1_ENST00000351298.4_Missense_Mutation_p.E155D|PLD1_ENST00000342215.6_Missense_Mutation_p.E155D|PLD1_ENST00000340989.4_Missense_Mutation_p.E155D	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	155	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTCGAGGCTCCTCTCTGACGT	0.403													75	137					9.59377e-39	1.32453e-38	1	0	A	171452730	C	A	171452730	3	1	382	1	0	0	0	0	1	0	0	0	12117	680	24	4	2851	4	PLD1	3	171452730	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1253990	171452730	26569700	114	73283											
ECE2	9718	broad.mit.edu	37	chr3	184008893	184008893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtccctggcagccttcCggaaccacacggcctgcatg	8	7	11	15	2	0	1	0	1	0	0	2	2	2	2	5	3	3	2	5	3	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:184008893C>T	ENST00000402825.3	+	17	2254	c.2254C>T	c.(2254-2256)Cgg>Tgg	p.R752W	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R605W|ECE2_ENST00000357474.5_Missense_Mutation_p.R680W|ECE2_ENST00000404464.3_Missense_Mutation_p.R634W	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	752	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.R605W(1)|p.R680W(1)|p.R752W(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGCCTTCCGGAACCACAC	0.582													20	75					0	0	0	0	T	184008893	C	T	184008893	3	4	382	1	0	0	0	0	1	0	0	0	4926	643	23	1	2884	1	ECE2	3	184008893	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	12556163	184008893	14013537	115	73284											
MASP1	5648	broad.mit.edu	37	chr3	186943239	186943239	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatactgggggtggagagtGgtgtgtttgacgccgagatg	7	11	18	5	2	1	3	1	1	0	2	1	5	1	3	1	4	1	1	1	4	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:186943239G>A	ENST00000337774.5	-	13	2003	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	538	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGTGGAGAGTGGTGTGTTTGA	0.542													29	132					0	0	0	0	A	186943239	G	A	186943239	2	1	382	1	0	0	0	0	0	0	0	1	9391	1335	47	4		4	MASP1	3	186943239	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2934346	186943239	11079191	116	73285											
TP63	8626	broad.mit.edu	37	chr3	189597916	189597916	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaactccaaaacaatcTgacgtcttctttagacattc	15	11	5	10	1	3	3	0	1	3	2	5	4	4	3	1	0	2	0	1	0	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:189597916T>C	ENST00000418709.2	+	11	1441	c.1413T>C	c.(1411-1413)tcT>tcC	p.S471S	TP63_ENST00000392463.2_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000437221.1_Silent_p.S377S|TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000264731.3_Intron	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	tumor protein p63	0					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAAAACAATCTGACGTCTTCT	0.443										HNSCC(45;0.13)			26	63					0	0	0	0	C	189597916	T	C	189597916	2	2	382	1	0	0	0	0	0	0	0	1	16487	1567	55	5		5	TP63	3	189597916	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	2654677	189597916	8424514	117	73286											
TBC1D14	57533	broad.mit.edu	37	chr4	6925573	6925573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccctgacccgcagcgatGatgtctccgtctgcagcgtg	7	8	12	14	4	2	2	0	2	2	0	3	3	2	2	3	0	4	2	3	0	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:6925573G>A	ENST00000409757.4	+	2	581	c.457G>A	c.(457-459)Gat>Aat	p.D153N	TBC1D14_ENST00000448507.1_Missense_Mutation_p.D153N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	153						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCGCAGCGATGATGTCTCCGT	0.587													8	87					0	0	0	0	A	6925573	G	A	6925573	3	1	382	1	0	0	0	0	1	0	0	0	15694	1290	45	2	459	2	TBC1D14	4	6925573	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		6925573	184228703	118	73287											
PCDH7	5099	broad.mit.edu	37	chr4	30725965	30725965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagaagctgtcagacaGcccaagcatggggcgataca	14	5	12	10	1	1	2	1	1	0	2	1	4	1	2	1	2	4	2	1	2	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:30725965G>T	ENST00000361762.2	+	1	3929	c.2921G>T	c.(2920-2922)aGc>aTc	p.S974I	PCDH7_ENST00000543491.1_Missense_Mutation_p.S974I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	974					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGTCAGACAGCCCAAGCATG	0.498													22	31					1.55795e-14	1.87984e-14	1	0	T	30725965	G	T	30725965	3	4	382	1	0	0	0	0	1	0	0	0	11587	971	34	4	2923	4	PCDH7	4	30725965	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	23800392	30725965	160428311	119	73288											
PDS5A	23244	broad.mit.edu	37	chr4	39924301	39924301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattcttgagtaactccatCaccttccatgatgatagaac	13	13	5	10	0	2	4	1	3	1	1	4	4	4	4	3	0	2	1	3	0	4	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:39924301C>T	ENST00000303538.8	-	6	1134	c.595G>A	c.(595-597)Gat>Aat	p.D199N	PDS5A_ENST00000503396.1_Missense_Mutation_p.D199N	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	199					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTAACTCCATCACCTTCCATG	0.318													5	21					0	0	0	0	T	39924301	C	T	39924301	3	4	382	1	0	0	0	0	1	0	0	0	11762	826	29	2	3563	2	PDS5A	4	39924301	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	9198336	39924301	151229975	120	73289											
CHRNA9	55584	broad.mit.edu	37	chr4	40337875	40337875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagatggaaaatatgctcaGaagttgtttaatgacctttt	13	14	9	5	0	1	3	1	1	0	2	1	4	1	4	1	1	1	4	1	1	5	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:40337875G>C	ENST00000310169.2	+	2	235	c.96G>C	c.(94-96)caG>caC	p.Q32H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	32					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AATATGCTCAGAAGTTGTTTA	0.403													5	59					0	0	0	0	C	40337875	G	C	40337875	3	2	382	1	0	0	0	0	1	0	0	0	3418	933	33	2	102	2	CHRNA9	4	40337875	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	413574	40337875	150816401	121	73290											
GABRG1	2565	broad.mit.edu	37	chr4	46060249	46060249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catacccaacgatgttcttgCaggcactgcatctttattga	10	13	7	11	1	2	1	0	1	2	0	2	2	2	1	1	1	4	4	1	1	3	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:46060249C>A	ENST00000295452.4	-	7	1068	c.901G>T	c.(901-903)Gca>Tca	p.A301S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	301					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GATGTTCTTGCAGGCACTGCA	0.333													23	30					8.58068e-18	1.07304e-17	1	0	A	46060249	C	A	46060249	3	1	382	1	0	0	0	0	1	0	0	0	6219	710	25	4	508	4	GABRG1	4	46060249	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5722374	46060249	145094027	122	73291											
DCUN1D4	23142	broad.mit.edu	37	chr4	52779750	52779750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaaacagatgtcctaGgactttatgcatagcagcga	16	8	9	8	1	0	2	0	0	0	2	1	4	1	3	1	1	4	2	1	1	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:52779750G>A	ENST00000334635.5	+	11	1059	c.879G>A	c.(877-879)taG>taA	p.*293*	DCUN1D4_ENST00000381441.3_Silent_p.*258*|DCUN1D4_ENST00000381437.4_Silent_p.*233*|DCUN1D4_ENST00000451288.2_Silent_p.*337*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	0										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AGATGTCCTAGGACTTTATGC	0.403													21	39					0	0	0	0	A	52779750	G	A	52779750	2	1	382	1	0	0	0	0	0	0	0	1	4348	995	35	4		4	DCUN1D4	4	52779750	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6719501	52779750	138374526	123	73292											
AASDH	132949	broad.mit.edu	37	chr4	57204793	57204793	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagttatggaaagcaaaCggtgttgcatagacccttga	12	12	11	6	1	0	2	0	1	0	1	0	3	0	3	1	2	3	5	1	2	5	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:57204793C>A	ENST00000205214.6	-	15	3252	c.3072G>T	c.(3070-3072)ccG>ccT	p.P1024P	AASDH_ENST00000602986.1_3'UTR|AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Silent_p.P539P|AASDH_ENST00000513376.1_Silent_p.P924P	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1024					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGAAAGCAAACGGTGTTGCAT	0.408													26	67					1.77063e-15	2.14979e-15	1	0	A	57204793	C	A	57204793	2	1	382	1	0	0	0	0	0	0	0	1	22	523	19	3		3	AASDH	4	57204793	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4425043	57204793	133949483	124	73293											
NPFFR2	10886	broad.mit.edu	37	chr4	73012715	73012715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagtgtgtggtctaccCttttaaaccaaagctcacta	10	13	7	11	0	2	0	1	0	1	0	3	0	3	0	3	1	3	2	3	1	5	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:73012715C>A	ENST00000308744.6	+	4	853	c.755C>A	c.(754-756)cCt>cAt	p.P252H	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153H|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150H	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	252					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GTGGTCTACCCTTTTAAACCA	0.378													48	139					2.24722e-20	2.87172e-20	1	0	A	73012715	C	A	73012715	3	1	382	1	0	0	0	0	1	0	0	0	10648	681	24	4	775	4	NPFFR2	4	73012715	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	15807922	73012715	118141561	125	73294											
SCD5	79966	broad.mit.edu	37	chr4	83552538	83552538	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatcatcggcttggttgccCgtttgcggtcagtggccagc	4	11	14	12	4	2	0	2	0	0	0	3	1	2	0	2	4	3	3	2	4	0	3	rs150319742	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:83552538C>G	ENST00000319540.4	-	5	1254	c.935G>C	c.(934-936)cGg>cCg	p.R312P		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	312					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CTTGGTTGCCCGTTTGCGGTC	0.547													14	24					0	0	0	0	G	83552538	C	G	83552538	3	3	382	1	0	0	0	0	1	0	0	0	13973	652	23	3	61	3	SCD5	4	83552538	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	10539823	83552538	107601738	126	73295											
ABCG2	9429	broad.mit.edu	37	chr4	89052265	89052265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatgaccctgttaatcCgttcgtttttttcatgattc	7	19	6	9	2	1	3	1	3	0	0	4	3	2	3	2	0	0	3	2	0	2	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:89052265C>T	ENST00000237612.3	-	5	1024	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R160Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	160	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCTGTTAATCCGTTCGTTTTT	0.423													31	127					0	0	0	0	T	89052265	C	T	89052265	3	4	382	1	0	0	0	0	1	0	0	0	69	652	23	1	1536	1	ABCG2	4	89052265	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5499727	89052265	102102011	127	73296											
UNC5C	8633	broad.mit.edu	37	chr4	96104154	96104154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctaaatctttccagaGtgaaggtgcagtgcaggttt	10	12	12	7	0	2	2	1	1	1	1	3	2	3	2	1	3	2	4	1	3	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:96104154G>C	ENST00000453304.1	-	14	2693	c.2345C>G	c.(2344-2346)aCt>aGt	p.T782S		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	782					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTTTCCAGAGTGAAGGTGCA	0.453													22	88					0	0	0	0	C	96104154	G	C	96104154	3	2	382	1	0	0	0	0	1	0	0	0	17089	1029	36	4	462	4	UNC5C	4	96104154	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	7051889	96104154	95050122	128	73297											
TSPAN5	10098	broad.mit.edu	37	chr4	99408023	99408023	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggtgatggaagagatgtTggacagaactccctgggagc	11	8	15	7	1	0	3	0	1	0	2	2	7	1	6	1	4	2	1	1	4	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:99408023T>G	ENST00000305798.3	-	3	547	c.145A>C	c.(145-147)Aac>Cac	p.N49H	TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	49						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GAAGAGATGTTGGACAGAACT	0.498													24	80					0	0	0	0	G	99408023	T	G	99408023	3	3	382	1	0	0	0	0	1	0	0	0	16745	1812	63	5	685	5	TSPAN5	4	99408023	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	3303869	99408023	91746253	129	73298											
ANK2	287	broad.mit.edu	37	chr4	114294539	114294539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaacctgtcaacatcgaGgaaggggatggctattccaa	13	7	12	9	1	1	0	1	0	0	0	3	4	2	3	2	5	2	1	2	5	5	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:114294539G>A	ENST00000357077.4	+	45	11846	c.11793G>A	c.(11791-11793)gaG>gaA	p.E3931E	ANK2_ENST00000394537.3_Silent_p.E1846E|ANK2_ENST00000510275.2_Silent_p.E529E|ANK2_ENST00000509550.1_Silent_p.E1022E|ANK2_ENST00000506722.1_Silent_p.E1837E|ANK2_ENST00000264366.6_Silent_p.E3898E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3898					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAACATCGAGGAAGGGGATG	0.443													31	79					0	0	0	0	A	114294539	G	A	114294539	2	1	382	1	0	0	0	0	0	0	0	1	621	991	35	4		4	ANK2	4	114294539	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	14886516	114294539	76859737	130	73299											
USP53	54532	broad.mit.edu	37	chr4	120188600	120188600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcactcaggcaggtcatCagctggtcacattacaaatc	12	9	9	11	0	4	0	4	0	0	0	5	1	4	0	0	3	3	3	0	3	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:120188600C>T	ENST00000450251.1	+	9	1642	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	USP53_ENST00000274030.6_Silent_p.I366I			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	366					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GGCAGGTCATCAGCTGGTCAC	0.383													19	82					0	0	0	0	T	120188600	C	T	120188600	2	4	382	1	0	0	0	0	0	0	0	1	17180	816	29	2		2	USP53	4	120188600	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5894061	120188600	70965676	131	73300											
PCDH10	57575	broad.mit.edu	37	chr4	134072606	134072606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgactgtagtggctcgggaCcggggcgagcctgcgctctc	4	8	16	13	4	1	1	0	1	1	0	3	3	1	2	2	4	2	3	2	4	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:134072606C>A	ENST00000264360.4	+	1	2137	c.1311C>A	c.(1309-1311)gaC>gaA	p.D437E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCTCGGGACCGGGGCGAGC	0.597													12	114					5.35267e-07	5.81033e-07	1	0	A	134072606	C	A	134072606	3	1	382	1	0	0	0	0	1	0	0	0	11578	506	18	4	1313	4	PCDH10	4	134072606	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	13884006	134072606	57081670	132	73301											
PCDH10	57575	broad.mit.edu	37	chr4	134073136	134073136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcggacgacggcgagaacgCccggctcacttacagcatcg	9	4	13	15	8	1	1	1	0	0	1	2	4	1	2	1	3	3	2	1	3	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:134073136C>G	ENST00000264360.4	+	1	2667	c.1841C>G	c.(1840-1842)gCc>gGc	p.A614G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	614	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCGAGAACGCCCGGCTCACT	0.697													14	45					0	0	0	0	G	134073136	C	G	134073136	3	3	382	1	0	0	0	0	1	0	0	0	11578	739	26	4	1843	4	PCDH10	4	134073136	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	530	134073136	57081140	133	73302											
FGA	2243	broad.mit.edu	37	chr4	155507723	155507723	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcactgctagggttcctGgggctttccgtctctgatcc	4	12	11	14	1	1	1	0	1	1	0	5	1	4	1	4	3	2	4	4	3	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:155507723G>T	ENST00000302053.3	-	5	936	c.858C>A	c.(856-858)ccC>ccA	p.P286P	FGA_ENST00000403106.3_Silent_p.P286P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	286					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TAGGGTTCCTGGGGCTTTCCG	0.552													19	105					2.94398e-08	3.23174e-08	1	0	T	155507723	G	T	155507723	2	4	382	1	0	0	0	0	0	0	0	1	5875	1335	47	4		4	FGA	4	155507723	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	21434587	155507723	35646553	134	73303											
C4orf27	54969	broad.mit.edu	37	chr4	170658814	170658814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actatgaaatacattaccatCtgtttcagggagctctcggt	11	13	8	9	1	3	1	1	1	2	0	4	2	3	2	1	2	3	2	1	2	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:170658814C>T	ENST00000393381.2	-	6	808	c.733G>A	c.(733-735)Gat>Aat	p.D245N		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	245						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACATTACCATCTGTTTCAGGG	0.358													14	53					0	0	0	0	T	170658814	C	T	170658814	3	4	382	1	0	0	0	0	1	0	0	0	2279	913	32	2	319	2	C4orf27	4	170658814	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	15151091	170658814	20495462	135	73304											
ADAM29	11086	broad.mit.edu	37	chr4	175897720	175897720	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgatgaggatacatgtcgTtgttcacaacctagatgcat	12	12	9	8	1	1	3	1	2	0	1	2	4	1	4	1	1	3	3	1	1	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:175897720T>C	ENST00000359240.3	+	5	1714	c.1044T>C	c.(1042-1044)cgT>cgC	p.R348R	ADAM29_ENST00000445694.1_Silent_p.R348R|ADAM29_ENST00000404450.4_Silent_p.R348R|ADAM29_ENST00000514159.1_Silent_p.R348R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	348	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATACATGTCGTTGTTCACAAC	0.373													22	121					0	0	0	0	C	175897720	T	C	175897720	2	2	382	1	0	0	0	0	0	0	0	1	247	1712	60	5		5	ADAM29	4	175897720	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	5238906	175897720	15256556	136	73305											
WDR17	116966	broad.mit.edu	37	chr4	177052728	177052728	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtccaatctccaaccaaaAatcattatacatcctcaaca	17	9	1	14	0	3	0	2	0	1	0	6	0	5	0	4	0	3	0	4	0	7	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:177052728A>C	ENST00000393643.2	+	7	1189	c.937A>C	c.(937-939)Aat>Cat	p.N313H	WDR17_ENST00000508596.1_Missense_Mutation_p.N313H|WDR17_ENST00000507824.2_Missense_Mutation_p.N320H|WDR17_ENST00000280190.4_Missense_Mutation_p.N337H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	337										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCAACCAAAAATCATTATAC	0.343													32	94					0	0	0	0	C	177052728	A	C	177052728	3	2	382	1	0	0	0	0	1	0	0	0	17373	14	1	5	1035	5	WDR17	4	177052728	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	1155008	177052728	14101548	137	73306											
WDR17	116966	broad.mit.edu	37	chr4	177071209	177071209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagattatgctatagaacCaggcactcctcctctactgt	10	13	6	12	0	2	2	1	0	1	2	4	2	4	2	3	1	3	2	3	1	5	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:177071209C>A	ENST00000393643.2	+	15	2315	c.2063C>A	c.(2062-2064)cCa>cAa	p.P688Q	WDR17_ENST00000508596.1_Missense_Mutation_p.P688Q|WDR17_ENST00000507824.2_Missense_Mutation_p.P695Q|WDR17_ENST00000280190.4_Missense_Mutation_p.P712Q	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	712										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTATAGAACCAGGCACTCCT	0.318													34	60					1.56442e-22	2.03933e-22	1	0	A	177071209	C	A	177071209	3	1	382	1	0	0	0	0	1	0	0	0	17373	594	21	4	2193	4	WDR17	4	177071209	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	18481	177071209	14083067	138	73307											
NEIL3	55247	broad.mit.edu	37	chr4	178274519	178274519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccacttaatgaagtaccCgtgtaatacttttggaaaac	14	12	7	8	1	0	1	0	1	0	0	0	2	0	2	2	1	4	2	2	1	8	7	rs115288700	by1000genomes	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:178274519C>A	ENST00000264596.3	+	8	1215	c.1097C>A	c.(1096-1098)cCg>cAg	p.P366Q	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	366					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATGAAGTACCCGTGTAATACT	0.358								Base excision repair (BER), DNA glycosylases					11	76					9.05144e-12	1.0509e-11	1	0	A	178274519	C	A	178274519	3	1	382	1	0	0	0	0	1	0	0	0	10390	652	23	3	1127	3	NEIL3	4	178274519	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1203310	178274519	12879757	139	73308											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367416	184367416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgggaactcagctcggagCtctggcatctccagtcagaa	10	8	12	11	1	4	1	2	0	2	1	6	3	4	3	1	3	3	3	1	3	2	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:184367416C>A	ENST00000504169.1	+	3	786	c.579C>A	c.(577-579)agC>agA	p.S193R	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	193	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGCTCGGAGCTCTGGCATCT	0.507													4	51					0.00024832	0.000257582	1	0	A	184367416	C	A	184367416	3	1	382	1	0	0	0	0	1	0	0	0	3191	796	28	4	589	4	CDKN2AIP	4	184367416	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6092897	184367416	6786860	140	73309											
PLEKHG4B	153478	broad.mit.edu	37	chr5	181715	181715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaccggacccctgactgtGcagtgataagcgaccgggct	9	6	14	12	3	0	3	0	2	0	1	0	6	0	4	4	2	2	2	4	2	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:181715G>A	ENST00000283426.6	+	17	3471	c.3421G>A	c.(3421-3423)Gca>Aca	p.A1141T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1141					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCCTGACTGTGCAGTGATAAG	0.562													36	84					0	0	0	0	A	181715	G	A	181715	3	1	382	1	0	0	0	0	1	0	0	0	12144	1319	46	4	3487	4	PLEKHG4B	5	181715	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		181715	180733545	141	73310											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146554	5146554	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcctcagtggccctttcaAcctgccaaggcttggtgagt	7	11	10	13	0	2	1	2	1	0	0	3	1	3	1	4	3	2	1	4	3	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:5146554A>T	ENST00000274181.7	+	3	625	c.487A>T	c.(487-489)Acc>Tcc	p.T163S	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T163S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	163					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCCCTTTCAACCTGCCAAGG	0.532													43	98					0	0	0	0	T	5146554	A	T	5146554	3	4	382	1	0	0	0	0	1	0	0	0	261	43	2	5	497	5	ADAMTS16	5	5146554	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	4964839	5146554	175768706	142	73311											
WDR70	55100	broad.mit.edu	37	chr5	37725077	37725077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagccccgccaacggagtAcaaggaaacagctggagaag	14	3	14	10	2	0	2	0	1	0	1	0	5	0	4	3	3	5	2	3	3	5	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:37725077A>G	ENST00000265107.4	+	16	1795	c.1639A>G	c.(1639-1641)Aca>Gca	p.T547A		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	547										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAACGGAGTACAAGGAAACA	0.478													60	105					0	0	0	0	G	37725077	A	G	37725077	3	3	382	1	0	0	0	0	1	0	0	0	17417	391	14	5	1701	5	WDR70	5	37725077	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	32578523	37725077	143190183	143	73312											
C7	730	broad.mit.edu	37	chr5	40931189	40931189	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctccagtcaactgccAgtgggacttctatgcccctt	6	12	7	16	0	3	0	1	0	2	0	5	1	4	1	5	1	3	0	5	1	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:40931189A>G	ENST00000313164.9	+	3	445	c.86A>G	c.(85-87)cAg>cGg	p.Q29R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	29	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCAACTGCCAGTGGGACTTC	0.433													26	9					0	0	0	0	G	40931189	A	G	40931189	3	3	382	1	0	0	0	0	1	0	0	0	2398	188	7	5	96	5	C7	5	40931189	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	3206112	40931189	139984071	144	73313											
RASGRF2	5924	broad.mit.edu	37	chr5	80256602	80256602	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcacgccctgtacctGgcctttctggcgcgcaagga	6	7	15	13	3	1	0	0	0	1	0	1	2	1	1	3	5	1	3	3	5	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:80256602G>C	ENST00000265080.4	+	1	112	c.45G>C	c.(43-45)ctG>ctC	p.L15L	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	15					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCTGTACCTGGCCTTTCTGG	0.687													7	11					0	0	0	0	C	80256602	G	C	80256602	2	2	382	1	0	0	0	0	0	0	0	1	13155	1335	47	4		4	RASGRF2	5	80256602	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	39325413	80256602	100658658	145	73314											
TRIM36	55521	broad.mit.edu	37	chr5	114483091	114483091	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaatgaattgcgcttccagCctgtgtaattagtaagtctt	10	15	8	8	1	2	1	1	1	1	0	3	1	3	1	2	0	2	3	2	0	5	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:114483091C>A	ENST00000513154.1	-	3	589	c.262_splice	c.e3-1	p.G88_splice	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Splice_Site_p.G100_splice|TRIM36_ENST00000514154.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	100						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCGCTTCCAGCCTGTGTAATT	0.408													29	28					5.45727e-16	6.69547e-16	1	0	A	114483091	C	A	114483091	5	1	382	1	0	0	0	0	0	0	1	0	16605	753	26	4	1919	4	TRIM36	5	114483091	Splice_Site	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	34226489	114483091	66432169	146	73315											
PCDHB5	26167	broad.mit.edu	37	chr5	140516082	140516082	+	Missense_Mutation	SNP	C	C	A																															ctacgctctccagccctaccCcagaaaatgccccggaaact																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140516082C>A	ENST00000231134.5	+	1	1283	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		356	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCTACCCCAGAAAATGC	0.522													52	52					1.30409e-13	1.5511e-13	1	0	A	140516082	C	A	140516082	3	1	382	1	0	0	0	0	1	0	0	0	11616	623	22	4	1068	4	PCDHB5	5	140516082	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	26032991	140516082	40399178	147	73316	993	2									
PCDHB5	26167	broad.mit.edu	37	chr5	140516083	140516083	+	Missense_Mutation	SNP	C	C	A																															tacgctctccagccctacccCagaaaatgccccggaaactg																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140516083C>A	ENST00000231134.5	+	1	1284	c.1067C>A	c.(1066-1068)cCa>cAa	p.P356Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		356	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTACCCCAGAAAATGCC	0.527													52	53					1.91693e-13	2.27076e-13	1	0	A	140516083	C	A	140516083	3	1	382	1	0	0	0	0	1	0	0	0	11616	594	21	4	1069	4	PCDHB5	5	140516083	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1	140516083	40399177	148	73317	993	2									
PCDHB12	56124	broad.mit.edu	37	chr5	140588711	140588711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaagagtgtttgcagctgGacacaaacactggggatttg	13	9	12	7	0	0	1	0	0	0	1	0	3	0	3	0	3	3	3	0	3	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140588711G>T	ENST00000239450.2	+	1	421	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		78	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			TTTGCAGCTGGACACAAACAC	0.498													52	38					2.0833e-19	2.63915e-19	1	0	T	140588711	G	T	140588711	3	4	382	1	0	0	0	0	1	0	0	0	11608	1174	41	2	234	2	PCDHB12	5	140588711	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	72628	140588711	40326549	149	73318											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723758	140723758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacatcgctaacgacctggGgctagagccccgggagctgg	9	5	14	13	3	0	1	0	0	0	1	1	3	0	2	3	4	4	3	3	4	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140723758G>T	ENST00000253812.6	+	1	158	c.158G>T	c.(157-159)gGg>gTg	p.G53V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACCTGGGGCTAGAGCCC	0.607											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	66					5.98616e-33	8.18716e-33	1	0	T	140723758	G	T	140723758	3	4	382	1	0	0	0	0	1	0	0	0	11626	1232	43	4	160	4	PCDHGA3	5	140723758	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	135047	140723758	40191502	150	73319											
FAT2	2196	broad.mit.edu	37	chr5	150947364	150947364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcaccacgcggctgccagGaggggaaaactcactaagct	12	5	11	13	2	2	0	2	0	0	0	2	2	2	2	2	4	3	2	2	4	3	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:150947364G>A	ENST00000261800.5	-	1	1141	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	377	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTGCCAGGAGGGGAAAAC	0.488													29	36					0	0	0	0	A	150947364	G	A	150947364	3	1	382	1	0	0	0	0	1	0	0	0	5735	1174	41	2	12012	2	FAT2	5	150947364	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	10223606	150947364	29967896	151	73320											
ADAM19	8728	broad.mit.edu	37	chr5	156991418	156991418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatcagttctcgcccctCagccattaccctgagctcag	8	9	8	16	1	4	1	3	1	1	0	5	2	4	2	4	1	3	2	4	1	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:156991418C>T	ENST00000257527.4	-	3	292	c.214G>A	c.(214-216)Gag>Aag	p.E72K	ADAM19_ENST00000517905.1_Missense_Mutation_p.E72K|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.E74K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	72					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCGCCCCTCAGCCATTACC	0.502													50	53					0	0	0	0	T	156991418	C	T	156991418	3	4	382	1	0	0	0	0	1	0	0	0	240	835	29	2	2626	2	ADAM19	5	156991418	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6044054	156991418	23923842	152	73321											
HRH2	3274	broad.mit.edu	37	chr5	175111013	175111013	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttgtgtaccgtgggctGagaggggatgatgccatcaa	8	10	16	7	2	1	2	1	2	0	1	1	4	1	3	2	3	2	3	2	3	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:175111013G>T	ENST00000231683.2	+	1	2550	c.777G>T	c.(775-777)ctG>ctT	p.L259L	HRH2_ENST00000377291.2_Silent_p.L259L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	259					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCGTGGGCTGAGAGGGGATG	0.567													4	56					0.150653	0.150653	1	0	T	175111013	G	T	175111013	2	4	382	1	0	0	0	0	0	0	0	1	7406	1277	45	2		2	HRH2	5	175111013	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	18119595	175111013	5804247	153	73322											
NSD1	64324	broad.mit.edu	37	chr5	176637659	176637659	+	Frame_Shift_Del	DEL	A	A	-																															acaaatgatgctctctctccAaaattcaacctgtcatcaag																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:176637659delA	ENST00000439151.2	+	5	2304	c.2259delA	c.(2257-2259)ccfs	p.P753fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.P650fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.P484fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	753					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCTCTCTCCAAAATTCAACC	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	36	---	---	---	---					-	176637659	A	-	176637659	7	5	382	1	0	1	0	1	0	0	0	0	10740	117	5	0	2273	0	NSD1	5	176637659	Frame_Shift_Del	DEL	A	TCGA-D6-A74Q-01A-11D-A34J-08	1526646	176637659	4277601	154	73323											
IRF4	3662	broad.mit.edu	37	chr6	407582	407582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacagatctatccgccattCctctattcaagaatgaaaaa	15	10	4	12	1	3	3	1	1	2	2	5	3	5	3	4	0	0	0	4	0	6	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:407582C>A	ENST00000380956.4	+	9	1466	c.1340C>A	c.(1339-1341)tCc>tAc	p.S447Y		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	447					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ATCCGCCATTCCTCTATTCAA	0.383			T	IGH@	MM								19	21					1.40151e-16	1.73041e-16	1	0	A	407582	C	A	407582	3	1	382	1	0	0	0	0	1	0	0	0	7885	855	30	2	1370	2	IRF4	6	407582	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		407582	170707485	155	73324											
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273432	26273432	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgagcgcattgcaggcGaggcttcccgcctggcgcat	5	10	13	13	5	0	0	0	0	0	0	2	2	1	0	2	3	2	4	2	3	0	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:26273432G>T	ENST00000377733.2	+	1	289	c.229G>T	c.(229-231)Gag>Tag	p.E77*		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77Q(2)|p.E77K(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CATTGCAGGCGAGGCTTCCCG	0.587													9	139					7.48243e-07	8.06225e-07	1	0	T	26273432	G	T	26273432	4	4	382	1	0	0	0	0	0	1	0	0	7198	1059	37	3	231	3	HIST1H2BI	6	26273432	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	25865850	26273432	144841635	156	73325											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28214796	28214796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcttttcatctctgtagagGttcacctgagatgaatccag	9	14	9	9	0	3	3	2	2	1	2	5	4	4	3	2	1	1	3	2	1	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:28214796G>A	ENST00000377294.2	-	4	972	c.729C>T	c.(727-729)aaC>aaT	p.N243N	ZKSCAN4_ENST00000423974.2_Silent_p.N88N	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	243	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTCTGTAGAGGTTCACCTGAG	0.458													31	38					0	0	0	0	A	28214796	G	A	28214796	2	1	382	1	0	0	0	0	0	0	0	1	17784	1252	44	4		4	ZKSCAN4	6	28214796	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1941364	28214796	142900271	157	73326											
NKAPL	222698	broad.mit.edu	37	chr6	28227978	28227978	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtggcagatactatggatTtaatagggccagaagcacct	13	10	11	7	0	0	2	0	0	0	2	0	3	0	3	2	3	2	2	2	3	5	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:28227978T>C	ENST00000343684.3	+	1	881	c.829T>C	c.(829-831)Tta>Cta	p.L277L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	277										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TACTATGGATTTAATAGGGCC	0.443													30	34					0	0	0	0	C	28227978	T	C	28227978	2	2	382	1	0	0	0	0	0	0	0	1	10510	1838	64	5		5	NKAPL	6	28227978	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	13182	28227978	142887089	158	73327											
PPP1R10	5514	broad.mit.edu	37	chr6	30570172	30570172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagggccttcgtgaggacGatgcccaccacctccaacca	10	5	9	17	2	0	1	0	1	0	0	2	3	1	2	7	2	2	0	7	2	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:30570172G>A	ENST00000376511.2	-	19	2806	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	752	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCGTGAGGACGATGCCCACCA	0.672													9	105					0	0	0	0	A	30570172	G	A	30570172	3	1	382	1	0	0	0	0	1	0	0	0	12428	1058	37	1	576	1	PPP1R10	6	30570172	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2342194	30570172	140544895	159	73328											
CCHCR1	54535	broad.mit.edu	37	chr6	31110739	31110739	+	Splice_Site	DEL	C	C	-																															cctttgtgcttggcccaagaCcttttatggactccctggtg																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:31110739delC	ENST00000396268.3	-	17	2680		c.e17+1		CCHCR1_ENST00000451521.2_Splice_Site|CCHCR1_ENST00000376266.5_Splice_Site|CCHCR1_ENST00000396263.2_Splice_Site	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1						cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGGCCCAAGACCTTTTATGGA	0.542													181	224	---	---	---	---					-	31110739	C	-	31110739	8	5	382	1	0	1	0	1	0	0	1	0	2904	521	18	0	131	0	CCHCR1	6	31110739	Splice_Site	DEL	C	TCGA-D6-A74Q-01A-11D-A34J-08	540567	31110739	140004328	160	73329											
KCTD20	222658	broad.mit.edu	37	chr6	36454839	36454839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaatctggtagctgctggaGatgatgtcttggaggaccag	9	10	15	7	1	2	2	0	1	2	1	2	6	2	4	1	4	2	3	1	4	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:36454839G>C	ENST00000373731.2	+	8	1538	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000544295.1_Missense_Mutation_p.D137H|KCTD20_ENST00000449081.2_Missense_Mutation_p.D217H|KCTD20_ENST00000536244.1_Missense_Mutation_p.D238H	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	383						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AGCTGCTGGAGATGATGTCTT	0.488													10	151					0	0	0	0	C	36454839	G	C	36454839	3	2	382	1	0	0	0	0	1	0	0	0	8161	942	33	2	1173	2	KCTD20	6	36454839	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	5344100	36454839	134660228	161	73330											
PKHD1	5314	broad.mit.edu	37	chr6	51612708	51612708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accaattcgacctcctcttgGattggagggagctctatctg	8	12	10	11	1	3	0	0	0	3	0	5	4	4	3	3	3	1	1	3	3	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:51612708G>C	ENST00000371117.3	-	58	9981	c.9706C>G	c.(9706-9708)Cca>Gca	p.P3236A	PKHD1_ENST00000340994.4_Missense_Mutation_p.P3236A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3236					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTCCTCTTGGATTGGAGGGA	0.478													36	44					0	0	0	0	C	51612708	G	C	51612708	3	2	382	1	0	0	0	0	1	0	0	0	12043	1174	41	2	2597	2	PKHD1	6	51612708	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	15157869	51612708	119502359	162	73331											
PKHD1	5314	broad.mit.edu	37	chr6	51890007	51890007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctggcacacaacgtggCttgcattaaaaaaagttaca	14	11	8	8	1	1	0	0	0	1	0	1	0	1	0	0	2	3	4	0	2	6	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:51890007C>G	ENST00000371117.3	-	32	4876	c.4601G>C	c.(4600-4602)aGc>aCc	p.S1534T	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1534T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1534	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAACGTGGCTTGCATTAAA	0.453													61	38					0	0	0	0	G	51890007	C	G	51890007	3	3	382	1	0	0	0	0	1	0	0	0	12043	797	28	4	7806	4	PKHD1	6	51890007	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	277299	51890007	119225060	163	73332											
DST	667	broad.mit.edu	37	chr6	56416991	56416991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttccctaccttgaacatGttaagctgctgattaattgt	10	15	8	8	0	0	2	0	2	0	0	1	3	1	2	2	0	4	4	2	0	4	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:56416991G>C	ENST00000370754.5	-	61	16505	c.16506C>G	c.(16504-16506)aaC>aaG	p.N5502K	DST_ENST00000361203.3_Missense_Mutation_p.N5322K|DST_ENST00000446842.2_Missense_Mutation_p.N4998K|DST_ENST00000244364.6_Missense_Mutation_p.N2910K|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.N5324K|DST_ENST00000370788.2_Missense_Mutation_p.N3236K|DST_ENST00000421834.2_Missense_Mutation_p.N3236K			Q03001	DYST_HUMAN	dystonin	5322					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTGAACATGTTAAGCTGCT	0.358													7	73					0	0	0	0	C	56416991	G	C	56416991	3	2	382	1	0	0	0	0	1	0	0	0	4819	1368	48	4	6957	4	DST	6	56416991	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4526984	56416991	114698076	164	73333											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604695	62604695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgaggggtgagaacacCtcgtccaggtggtgggggag	7	6	18	10	2	0	1	0	1	0	1	3	4	2	2	4	6	1	0	4	6	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:62604695C>A	ENST00000281156.4	-	6	933	c.655G>T	c.(655-657)Ggt>Tgt	p.G219C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	219	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGAGAACACCTCGTCCAGGT	0.592													14	16					4.36969e-10	4.97446e-10	1	0	A	62604695	C	A	62604695	3	1	382	1	0	0	0	0	1	0	0	0	8198	681	24	4	410	4	KHDRBS2	6	62604695	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6187704	62604695	108510372	165	73334											
LGSN	51557	broad.mit.edu	37	chr6	63990815	63990815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatttaaaatttcgggcacaCcaaaaatgcaaaaatcatag	20	9	5	7	1	1	0	1	0	0	0	2	0	1	0	1	1	1	2	1	1	8	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:63990815C>A	ENST00000370657.4	-	4	674	c.641G>T	c.(640-642)gGt>gTt	p.G214V	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	214					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTCGGGCACACCAAAAATGCA	0.403													14	48					0.000151284	0.000157487	1	0	A	63990815	C	A	63990815	3	1	382	1	0	0	0	0	1	0	0	0	8813	507	18	4	892	4	LGSN	6	63990815	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1386120	63990815	107124252	166	73335											
BAI3	577	broad.mit.edu	37	chr6	70048882	70048882	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcaacaacagctttgtCagccaccaccgccagtaacg	12	8	7	14	2	2	0	2	0	0	0	2	0	2	0	4	0	5	3	4	0	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:70048882C>A	ENST00000370598.1	+	25	4084	c.3263C>A	c.(3262-3264)tCa>tAa	p.S1088*	BAI3_ENST00000546190.1_Nonsense_Mutation_p.S52*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.S294*	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1088					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGCTTTGTCAGCCACCACC	0.418													65	120					3.36121e-32	4.58632e-32	1	0	A	70048882	C	A	70048882	4	1	382	1	0	0	0	0	0	1	0	0	1304	838	29	2	3353	2	BAI3	6	70048882	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6058067	70048882	101066185	167	73336											
PRDM13	59336	broad.mit.edu	37	chr6	100056662	100056662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacgagtcggggggctccCctctggagtggatagggtta	6	9	18	8	2	1	0	0	0	1	0	3	4	2	3	2	7	0	2	2	7	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:100056662C>T	ENST00000369214.1	+	2	481	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PRDM13_ENST00000369215.4_Missense_Mutation_p.P64S	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	64	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGGGGCTCCCCTCTGGAGTG	0.617													14	24					0	0	0	0	T	100056662	C	T	100056662	3	4	382	1	0	0	0	0	1	0	0	0	12534	623	22	4	196	4	PRDM13	6	100056662	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	30007780	100056662	71058405	168	73337											
SLC22A16	85413	broad.mit.edu	37	chr6	110778142	110778142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgatgaggggtgactccCatgaacacagaagccaagta	15	6	11	9	0	0	5	0	4	0	1	1	5	1	5	2	2	2	1	2	2	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:110778142C>A	ENST00000368919.3	-	2	198	c.132G>T	c.(130-132)atG>atT	p.M44I	SLC22A16_ENST00000330550.4_Missense_Mutation_p.M42I|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.M44I|SLC22A16_ENST00000456137.2_Missense_Mutation_p.M44I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	44					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GGGTGACTCCCATGAACACAG	0.473													38	52					1.07637e-12	1.26224e-12	1	0	A	110778142	C	A	110778142	3	1	382	1	0	0	0	0	1	0	0	0	14535	594	21	4	1629	4	SLC22A16	6	110778142	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	10721480	110778142	60336925	169	73338											
GTF3C6	112495	broad.mit.edu	37	chr6	111283710	111283710	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggagaagaaaacataggTtagttccattattctctgaa	16	11	9	5	0	1	3	0	1	1	2	3	5	2	3	1	2	1	2	1	2	8	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:111283710T>C	ENST00000329970.7	+	5	571		c.e5+2		GTF3C6_ENST00000480191.1_Splice_Site	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa							transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		AAAACATAGGTTAGTTCCATT	0.353													14	31					0	0	0	0	C	111283710	T	C	111283710	5	2	382	1	0	0	0	0	0	0	1	0	6927	1739	60	5	381	5	GTF3C6	6	111283710	Splice_Site	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	505568	111283710	59831357	170	73339											
LAMA4	3910	broad.mit.edu	37	chr6	112476784	112476784	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcataaattcggtcagTggtgttcaaagcaaattctg	13	12	8	8	1	4	0	3	0	1	0	5	0	4	0	0	2	1	2	0	2	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:112476784T>C	ENST00000230538.7	-	15	2339	c.1942A>G	c.(1942-1944)Act>Gct	p.T648A	RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.T641A|LAMA4_ENST00000389463.4_Missense_Mutation_p.T641A|LAMA4_ENST00000424408.2_Missense_Mutation_p.T641A|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	648	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTCGGTCAGTGGTGTTCAAA	0.388													48	66					0	0	0	0	C	112476784	T	C	112476784	3	2	382	1	0	0	0	0	1	0	0	0	8661	1696	59	5	3629	5	LAMA4	6	112476784	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	1193074	112476784	58638283	171	73340											
LAMA4	3910	broad.mit.edu	37	chr6	112480014	112480014	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatcatggctgaggttactTaggttagatagttttacttg	11	16	10	4	0	1	2	1	1	0	1	1	2	1	2	0	3	2	4	0	3	6	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:112480014T>A	ENST00000230538.7	-	14	2134	c.1737A>T	c.(1735-1737)ctA>ctT	p.L579L	LAMA4_ENST00000522006.1_Silent_p.L572L|LAMA4_ENST00000389463.4_Silent_p.L572L|LAMA4_ENST00000424408.2_Silent_p.L572L|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	579	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGAGGTTACTTAGGTTAGATA	0.343													24	87					0	0	0	0	A	112480014	T	A	112480014	2	1	382	1	0	0	0	0	0	0	0	1	8661	1741	61	5		5	LAMA4	6	112480014	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	3230	112480014	58635053	172	73341											
RFX6	222546	broad.mit.edu	37	chr6	117252625	117252625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatggtgtcctctttaccaCctatcaacactgtgttcatg	10	14	6	11	0	3	0	2	0	1	0	4	0	4	0	3	1	2	1	3	1	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117252625C>A	ENST00000332958.2	+	19	2759	c.2743C>A	c.(2743-2745)Cct>Act	p.P915T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	915					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCTTTACCACCTATCAACAC	0.448													33	60					1.08312e-15	1.32055e-15	1	0	A	117252625	C	A	117252625	3	1	382	1	0	0	0	0	1	0	0	0	13349	507	18	4	2817	4	RFX6	6	117252625	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4772611	117252625	53862442	173	73342											
VGLL2	245806	broad.mit.edu	37	chr6	117586936	117586936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcggagagtcatgagctgtCtggatgttatgtaccaagtc	9	12	13	7	1	2	2	1	1	1	1	3	4	2	3	1	2	3	3	1	2	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117586936C>T	ENST00000326274.5	+	1	200	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	VGLL2_ENST00000352536.3_Silent_p.L4L	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	4					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CATGAGCTGTCTGGATGTTAT	0.582													7	26					0	0	0	0	T	117586936	C	T	117586936	2	4	382	1	0	0	0	0	0	0	0	1	17255	912	32	2		2	VGLL2	6	117586936	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	334311	117586936	53528131	174	73343											
ROS1	6098	broad.mit.edu	37	chr6	117642486	117642486	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgcagctcagccaactCtttgtcttcgtttataagca	9	13	6	13	2	3	0	1	0	2	0	5	0	3	0	2	0	4	4	2	0	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117642486C>A	ENST00000368508.3	-	35	5911	c.5713G>T	c.(5713-5715)Gag>Tag	p.E1905*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1899*|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1905					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGCCAACTCTTTGTCTTCG	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								71	178					1.93348e-29	2.62593e-29	1	0	A	117642486	C	A	117642486	4	1	382	1	0	0	0	0	0	1	0	0	13616	922	32	2	1366	2	ROS1	6	117642486	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	55550	117642486	53472581	175	73344											
DCBLD1	285761	broad.mit.edu	37	chr6	117846586	117846586	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgggaatatggtagatGgatatagagatgtaagtaat	14	14	12	1	0	1	2	0	0	1	2	1	5	1	4	0	3	0	3	0	3	7	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117846586G>T	ENST00000338728.5	+	5	694	c.574G>T	c.(574-576)Gga>Tga	p.G192*	DCBLD1_ENST00000368503.4_Nonsense_Mutation_p.G192*|DCBLD1_ENST00000296955.8_Nonsense_Mutation_p.G192*|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	192	LCCL.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TATGGTAGATGGATATAGAGA	0.323													25	62					3.57733e-08	3.91962e-08	1	0	T	117846586	G	T	117846586	4	4	382	1	0	0	0	0	0	1	0	0	4312	1349	47	4	592	4	DCBLD1	6	117846586	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	204100	117846586	53268481	176	73345											
HINT3	135114	broad.mit.edu	37	chr6	126293443	126293443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaaaaaccattcttgaaAgaaataatttcactgacttc	16	13	5	7	0	2	3	1	2	1	1	3	4	2	4	1	1	1	0	1	1	5	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:126293443A>G	ENST00000229633.5	+	3	555	c.358A>G	c.(358-360)Aga>Gga	p.R120G		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	120	HIT.					mitochondrion|nucleolus	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CATTCTTGAAAGAAATAATTT	0.333													32	55					0	0	0	0	G	126293443	A	G	126293443	3	3	382	1	0	0	0	0	1	0	0	0	7163	64	3	5	368	5	HINT3	6	126293443	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	8446857	126293443	44821624	177	73346											
BCLAF1	9774	broad.mit.edu	37	chr6	136597220	136597220	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctttcagaatttttgtcTtcttctttgtgcttatcttt	5	25	4	7	0	6	1	1	0	5	1	6	1	6	1	0	0	1	1	0	0	2	9			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:136597220T>G	ENST00000531224.1	-	5	1695	c.1443A>C	c.(1441-1443)gaA>gaC	p.E481D	BCLAF1_ENST00000392348.2_Missense_Mutation_p.E479D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E479D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E479D|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E481D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	481					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AATTTTTGTCTTCTTCTTTGT	0.358													36	217					0	0	0	0	G	136597220	T	G	136597220	3	3	382	1	0	0	0	0	1	0	0	0	1387	1606	56	5	1355	5	BCLAF1	6	136597220	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	10303777	136597220	34517847	178	73347											
OLIG3	167826	broad.mit.edu	37	chr6	137814789	137814789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcacggagttggccgcGtgcgcggggtggccggccga	3	5	22	11	7	0	0	0	0	0	0	0	2	0	1	3	7	2	2	3	7	0	1	rs138056559		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:137814789G>A	ENST00000367734.2	-	1	742	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTTGGCCGCGTGCGCGGGGT	0.701													7	24					0	0	0	0	A	137814789	G	A	137814789	2	1	382	1	0	0	0	0	0	0	0	1	10933	1136	40	1		1	OLIG3	6	137814789	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1217569	137814789	33300278	179	73348											
KIAA1244	57221	broad.mit.edu	37	chr6	138655531	138655531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggacgacgagagaagcacgGattcttcccagcagtgttca	12	7	12	10	3	2	1	1	0	1	1	3	6	3	3	1	2	2	3	1	2	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:138655531G>A	ENST00000251691.4	+	33	5714	c.5548G>A	c.(5548-5550)Gat>Aat	p.D1850N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1850					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAGAAGCACGGATTCTTCCCA	0.542													6	13					0	0	0	0	A	138655531	G	A	138655531	3	1	382	1	0	0	0	0	1	0	0	0	8268	1174	41	2	5678	2	KIAA1244	6	138655531	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	840742	138655531	32459536	180	73349											
UTRN	7402	broad.mit.edu	37	chr6	144832258	144832258	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattggtgcaataccttgaTggtatgtctcaggaaaaagt	13	12	11	5	0	1	2	1	1	1	1	2	3	1	3	1	3	2	2	1	3	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:144832258T>C	ENST00000367545.3	+	34	4943	c.4944_splice	c.e34+1	p.M1648_splice		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1648	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATACCTTGATGGTATGTCTC	0.393													34	83					0	0	0	0	C	144832258	T	C	144832258	5	2	382	1	0	0	0	0	0	0	1	0	17199	1478	51	5	5077	5	UTRN	6	144832258	Splice_Site	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	6176727	144832258	26282809	181	73350											
SYNE1	23345	broad.mit.edu	37	chr6	152623178	152623178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatctgctcctggtagccCttaattttctgcgccagctc	5	13	9	14	2	2	0	0	0	2	0	4	1	3	0	3	1	4	3	3	1	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:152623178C>A	ENST00000367255.5	-	92	17968	c.17367G>T	c.(17365-17367)aaG>aaT	p.K5789N	SYNE1_ENST00000448038.1_Missense_Mutation_p.K5718N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K313N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5789N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5718N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5401N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5789					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGGTAGCCCTTAATTTTCT	0.532										HNSCC(10;0.0054)			25	95					7.38237e-10	8.38775e-10	1	0	A	152623178	C	A	152623178	3	1	382	1	0	0	0	0	1	0	0	0	15536	680	24	4	9319	4	SYNE1	6	152623178	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7790920	152623178	18491889	182	73351											
LPA	4018	broad.mit.edu	37	chr6	160978583	160978583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagaatctggattcctgCagtagttctcggtcaggcca	8	11	10	12	1	3	1	1	0	2	1	6	2	5	2	3	3	1	3	3	3	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:160978583C>A	ENST00000447678.1	-	30	4772	c.4652G>T	c.(4651-4653)tGc>tTc	p.C1551F	LPA_ENST00000316300.5_Missense_Mutation_p.C1551F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4059	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGATTCCTGCAGTAGTTCTC	0.478													24	61					2.79863e-10	3.19219e-10	1	0	A	160978583	C	A	160978583	3	1	382	1	0	0	0	0	1	0	0	0	8967	710	25	4	1514	4	LPA	6	160978583	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	8355405	160978583	10136484	183	73352											
MLLT4	4301	broad.mit.edu	37	chr6	168265306	168265306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actttgcaacaaaatgtattCgggtctctagtactgccacc	11	12	7	11	1	1	0	0	0	1	0	3	0	1	0	2	1	4	3	2	1	6	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:168265306C>T	ENST00000366806.2	+	2	323	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	MLLT4_ENST00000344191.4_Missense_Mutation_p.R61W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R61W|MLLT4_ENST00000392108.3_Missense_Mutation_p.R61W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R61W|MLLT4_ENST00000351017.4_Missense_Mutation_p.R61W|MLLT4_ENST00000447894.2_Missense_Mutation_p.R61W			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	61	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAAATGTATTCGGGTCTCTAG	0.398			T	MLL	AL								95	292					0	0	0	0	T	168265306	C	T	168265306	3	4	382	1	0	0	0	0	1	0	0	0	9698	875	31	1	187	1	MLLT4	6	168265306	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7286723	168265306	2849761	184	73353											
SDK1	221935	broad.mit.edu	37	chr7	4152954	4152954	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagtgaacattgttgggccGagcccctacagtccgtcttc	8	10	10	13	2	1	1	0	1	1	0	3	2	2	1	4	1	3	1	4	1	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:4152954G>A	ENST00000404826.2	+	24	3607	c.3468G>A	c.(3466-3468)ccG>ccA	p.P1156P	SDK1_ENST00000389531.3_Silent_p.P1156P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1156	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTGTTGGGCCGAGCCCCTACA	0.547													24	259					0	0	0	0	A	4152954	G	A	4152954	2	1	382	1	0	0	0	0	0	0	0	1	14055	1045	37	1		1	SDK1	7	4152954	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		4152954	154985709	185	73354											
AIMP2	7965	broad.mit.edu	37	chr7	6049120	6049120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccagcgccgggcgctggCcacgtgcaggtaggagcgcg	5	3	19	14	6	0	0	0	0	0	0	0	1	0	1	3	5	3	3	3	5	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:6049120C>T	ENST00000223029.3	+	1	245	c.126C>T	c.(124-126)ggC>ggT	p.G42G	AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.G42G	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	42					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGGCGCTGGCCACGTGCAGG	0.771													14	30					0	0	0	0	T	6049120	C	T	6049120	2	4	382	1	0	0	0	0	0	0	0	1	434	726	26	4		4	AIMP2	7	6049120	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1896166	6049120	153089543	186	73355											
THSD7A	221981	broad.mit.edu	37	chr7	11446683	11446683	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcttcggatcatttttcCttgaagagatacaaagtgat	11	15	8	7	2	2	3	1	2	1	1	5	5	3	4	1	1	1	0	1	1	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:11446683C>A	ENST00000423059.3	-	21	4168		c.e21-1		AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATCATTTTTCCTTGAAGAGAT	0.458										HNSCC(18;0.044)			13	22					1.49906e-05	1.58309e-05	1	0	A	11446683	C	A	11446683	5	1	382	1	0	0	0	0	0	0	1	0	15973	695	24	4	1089	4	THSD7A	7	11446683	Splice_Site	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5397563	11446683	147691980	187	73356											
SCIN	85477	broad.mit.edu	37	chr7	12675735	12675735	+	Frame_Shift_Del	DEL	G	G	-																															cctgactgttcagttggatcGgtcccttggaggacaggctg																								rs76010472	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:12675735delG	ENST00000297029.5	+	10	1486	c.1385delG	c.(1384-1386)cgfs	p.R462fs	SCIN_ENST00000445618.2_Frame_Shift_Del_p.R215fs|SCIN_ENST00000519209.1_Frame_Shift_Del_p.R215fs	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	462	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGTTGGATCGGTCCCTTGGA	0.478													10	24	---	---	---	---					-	12675735	G	-	12675735	7	5	382	1	0	1	0	1	0	0	0	0	13992	1116	39	0	1423	0	SCIN	7	12675735	Frame_Shift_Del	DEL	G	TCGA-D6-A74Q-01A-11D-A34J-08	1229052	12675735	146462928	188	73357											
ABCB5	340273	broad.mit.edu	37	chr7	20683156	20683156	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caaaacatgtctactttttcGattggcctggcagttggttt	8	16	9	8	1	1	0	0	0	1	0	2	1	1	0	1	3	2	3	1	3	3	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:20683156G>C	ENST00000404938.2	+	7	1231	c.579G>C	c.(577-579)tcG>tcC	p.S193S		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	379					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTACTTTTTCGATTGGCCTGG	0.428													27	61					0	0	0	0	C	20683156	G	C	20683156	2	2	382	1	0	0	0	0	0	0	0	1	44	1045	37	3		3	ABCB5	7	20683156	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	8007421	20683156	138455507	189	73358											
IGF2BP3	10643	broad.mit.edu	37	chr7	23509711	23509711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttctcgctgaggtttcCgatatacagtttgttcattg	6	16	11	8	3	2	1	1	1	1	0	4	2	3	1	1	2	1	5	1	2	2	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23509711C>T	ENST00000258729.3	-	1	375	c.19G>A	c.(19-21)Gga>Aga	p.G7R		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	7	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTGAGGTTTCCGATATACAGT	0.478													48	102					0	0	0	0	T	23509711	C	T	23509711	3	4	382	1	0	0	0	0	1	0	0	0	7628	661	23	1	1780	1	IGF2BP3	7	23509711	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2826555	23509711	135628952	190	73359											
STK31	56164	broad.mit.edu	37	chr7	23808708	23808708	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttatgactggaagtgtgAtaaaagagaggagttcacca	15	11	11	4	0	1	3	1	2	0	1	1	6	1	5	1	2	0	1	1	2	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23808708A>T	ENST00000354639.3	+	12	1906	c.1442A>T	c.(1441-1443)gAt>gTt	p.D481V	STK31_ENST00000428484.1_Missense_Mutation_p.D481V|STK31_ENST00000355870.3_Missense_Mutation_p.D504V|STK31_ENST00000433467.2_Missense_Mutation_p.D504V|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	504							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGAAGTGTGATAAAAGAGAG	0.393													49	115					0	0	0	0	T	23808708	A	T	23808708	3	4	382	1	0	0	0	0	1	0	0	0	15386	333	12	5	1557	5	STK31	7	23808708	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	298997	23808708	135329955	191	73360											
STK31	56164	broad.mit.edu	37	chr7	23871925	23871925	+	Silent	SNP	G	G	A																															aaggaagaagaaataaagacGgagaacttggataaatgtat																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23871925G>A	ENST00000354639.3	+	24	3395	c.2931G>A	c.(2929-2931)acG>acA	p.T977T	STK31_ENST00000428484.1_Silent_p.T977T|STK31_ENST00000355870.3_Silent_p.T1000T|STK31_ENST00000433467.2_Silent_p.T977T|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1000	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATAAAGACGGAGAACTTGG	0.328													41	96					0	0	0	0	A	23871925	G	A	23871925	2	1	382	1	0	0	0	0	0	0	0	1	15386	1103	39	1		1	STK31	7	23871925	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	63217	23871925	135266738	192	73361	994	2									
STK31	56164	broad.mit.edu	37	chr7	23871926	23871926	+	Missense_Mutation	SNP	G	G	C																															aggaagaagaaataaagacgGagaacttggataaatgtatg																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23871926G>C	ENST00000354639.3	+	24	3396	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q	STK31_ENST00000428484.1_Missense_Mutation_p.E978Q|STK31_ENST00000355870.3_Missense_Mutation_p.E1001Q|STK31_ENST00000433467.2_Missense_Mutation_p.E978Q|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1001	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AATAAAGACGGAGAACTTGGA	0.328													41	99					0	0	0	0	C	23871926	G	C	23871926	3	2	382	1	0	0	0	0	1	0	0	0	15386	1175	41	2	3095	2	STK31	7	23871926	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1	23871926	135266737	193	73362	994	2									
TRIL	9865	broad.mit.edu	37	chr7	28997171	28997171	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagcgcccccagggcgttCccgtccagccgcagcttgac	5	5	13	18	4	0	1	0	1	0	0	2	1	2	1	5	2	3	4	5	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:28997171C>A	ENST00000322982.3	-	0	763							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CCAGGGCGTTCCCGTCCAGCC	0.647													13	17					1.5842e-08	1.75888e-08	1	0	A	28997171	C	A	28997171	1	1	382	0	1	0	0	0	0	0	0	0	16580	842	30	2		2	TRIL	7	28997171	RNA	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5125245	28997171	130141492	194	73363											
EPDR1	54749	broad.mit.edu	37	chr7	37960229	37960229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccactgcatttcctgttGgcagcagtgagcagtgaaaa	10	10	11	10	0	0	2	0	2	0	0	1	2	1	2	2	1	4	5	2	1	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:37960229G>T	ENST00000559325.1	+	1	67	c.48G>T	c.(46-48)ttG>ttT	p.L16F	EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						ATTTCCTGTTGGCAGCAGTGA	0.587													5	12					0.0215528	0.0217389	1	0	T	37960229	G	T	37960229	3	4	382	1	0	0	0	0	1	0	0	0	5201	1339	47	4	50	4	EPDR1	7	37960229	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	8963058	37960229	121178434	195	73364											
GCK	2645	broad.mit.edu	37	chr7	44192917	44192917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacctgagccttctggggtgGagcgcacgtaggtgggcagc	6	8	17	10	2	1	1	0	1	1	0	1	2	1	2	2	5	4	3	2	5	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:44192917G>A	ENST00000403799.3	-	2	660	c.191C>T	c.(190-192)tCc>tTc	p.S64F	GCK_ENST00000345378.2_Missense_Mutation_p.S65F|GCK_ENST00000437084.1_Missense_Mutation_p.S64F|GCK_ENST00000395796.3_Missense_Mutation_p.S63F	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	64					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTCTGGGGTGGAGCGCACGTA	0.607													29	67					0	0	0	0	A	44192917	G	A	44192917	3	1	382	1	0	0	0	0	1	0	0	0	6342	1174	41	2	1242	2	GCK	7	44192917	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6232688	44192917	114945746	196	73365											
TNS3	64759	broad.mit.edu	37	chr7	47408863	47408863	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctccattcacgtgaacctgGgctggcaccacgtggcgggt	6	9	13	13	3	2	1	1	1	1	0	3	1	2	1	3	4	1	2	3	4	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:47408863G>T	ENST00000398879.1	-	17	1746	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Silent_p.A460A			Q68CZ2	TENS3_HUMAN	tensin 3	460						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGTGAACCTGGGCTGGCACCA	0.577													22	43					2.37509e-13	2.8078e-13	1	0	T	47408863	G	T	47408863	2	4	382	1	0	0	0	0	0	0	0	1	16438	1219	43	4		4	TNS3	7	47408863	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3215946	47408863	111729800	197	73366											
POM121	9883	broad.mit.edu	37	chr7	72413258	72413258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacactgccgtgccaaCggccaccagcagcagcgctg	8	4	11	18	3	0	0	0	0	0	0	0	0	0	0	5	1	7	4	5	1	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:72413258C>T	ENST00000395270.1	+	14	2972	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M	POM121_ENST00000434423.2_Missense_Mutation_p.T909M|POM121_ENST00000446813.1_Missense_Mutation_p.T644M|POM121_ENST00000257622.4_Missense_Mutation_p.T644M|POM121_ENST00000358357.3_Missense_Mutation_p.T644M	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCGTGCCAACGGCCACCAGC	0.632													49	178					0	0	0	0	T	72413258	C	T	72413258	3	4	382	1	0	0	0	0	1	0	0	0	12311	536	19	1	1969	1	POM121	7	72413258	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	25004395	72413258	86725405	198	73367											
FGL2	10875	broad.mit.edu	37	chr7	76828974	76828974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctcttcgcatttccctCtgctttctagtctcactggg	3	16	7	15	1	4	0	1	0	4	0	7	0	5	0	2	1	2	2	2	1	1	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:76828974C>T	ENST00000248598.5	-	1	169	c.137G>A	c.(136-138)aGa>aAa	p.R46K	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	46					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GCATTTCCCTCTGCTTTCTAG	0.498													12	151					0	0	0	0	T	76828974	C	T	76828974	3	4	382	1	0	0	0	0	1	0	0	0	5918	913	32	2	1190	2	FGL2	7	76828974	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4415716	76828974	82309689	199	73368											
PCLO	27445	broad.mit.edu	37	chr7	82763657	82763657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagttaggaggatccttaGaacctatgttgagttcagtt	11	14	11	5	0	1	3	1	2	0	1	2	5	2	5	2	2	1	4	2	2	5	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:82763657G>A	ENST00000423517.2	-	3	3546	c.3209C>T	c.(3208-3210)tCt>tTt	p.S1070F	PCLO_ENST00000333891.8_Missense_Mutation_p.S1070F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1016					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGATCCTTAGAACCTATGTT	0.428													10	12					0	0	0	0	A	82763657	G	A	82763657	3	1	382	1	0	0	0	0	1	0	0	0	11654	942	33	2	12328	2	PCLO	7	82763657	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	5934683	82763657	76375006	200	73369											
SAMD9L	219285	broad.mit.edu	37	chr7	92763399	92763399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaccttcttgatgacCgagtcaccgattttagttta	12	13	7	9	2	2	2	1	2	1	0	2	4	2	2	3	0	1	2	3	0	4	6	rs142436298	by1000genomes	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:92763399C>A	ENST00000318238.4	-	5	3102	c.1886G>T	c.(1885-1887)cGg>cTg	p.R629L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R629L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R629L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	629										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTGATGACCGAGTCACCGA	0.388													52	175					1.32667e-27	1.78932e-27	1	0	A	92763399	C	A	92763399	3	1	382	1	0	0	0	0	1	0	0	0	13912	652	23	3	2872	3	SAMD9L	7	92763399	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	9999742	92763399	66375264	201	73370											
PON1	5444	broad.mit.edu	37	chr7	94937343	94937343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccatcgggtgaaatgttGattccattagcaaaatcaaa	14	12	8	7	1	1	2	1	2	0	0	3	2	2	2	2	1	2	2	2	1	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:94937343G>A	ENST00000222381.3	-	6	909	c.678C>T	c.(676-678)atC>atT	p.I226I	PON1_ENST00000542556.1_Silent_p.I226I	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	226					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GTGAAATGTTGATTCCATTAG	0.383													32	121					0	0	0	0	A	94937343	G	A	94937343	2	1	382	1	0	0	0	0	0	0	0	1	12320	1280	45	2		2	PON1	7	94937343	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2173944	94937343	64201320	202	73371											
TECPR1	25851	broad.mit.edu	37	chr7	97860318	97860318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcctccaggtctgggCtgggctcgctcacgaagatg	5	8	16	12	3	2	1	1	0	1	1	4	2	3	1	2	4	0	3	2	4	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:97860318C>T	ENST00000447648.2	-	15	2536	c.2237G>A	c.(2236-2238)aGc>aAc	p.S746N	TECPR1_ENST00000542604.1_Missense_Mutation_p.S676N|TECPR1_ENST00000379795.3_Missense_Mutation_p.S747N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	746				S -> T (in Ref. 6; CAB55961).		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						CAGGTCTGGGCTGGGCTCGCT	0.692													5	38					0	0	0	0	T	97860318	C	T	97860318	3	4	382	1	0	0	0	0	1	0	0	0	15837	797	28	4	1308	4	TECPR1	7	97860318	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2922975	97860318	61278345	203	73372											
FBXO24	26261	broad.mit.edu	37	chr7	100189357	100189357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcaagagcgtggccccCttgctagcccacggctaccg	7	6	11	17	3	1	1	1	0	0	1	1	1	1	1	4	2	5	3	4	2	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:100189357C>T	ENST00000241071.6	+	4	712	c.390C>T	c.(388-390)ccC>ccT	p.P130P	FBXO24_ENST00000427939.2_Silent_p.P168P|FBXO24_ENST00000468962.1_Silent_p.P118P|FBXO24_ENST00000465843.1_Silent_p.P116P|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000360609.2_Silent_p.P116P|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	130						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCGTGGCCCCCTTGCTAGCCC	0.577													34	106					0	0	0	0	T	100189357	C	T	100189357	2	4	382	1	0	0	0	0	0	0	0	1	5780	668	24	4		4	FBXO24	7	100189357	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2329039	100189357	58949306	204	73373											
PRKAR2B	5577	broad.mit.edu	37	chr7	106710753	106710753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaaccgattcacaaggcGtgcctcaggtaagtctgatt	13	10	9	9	2	3	1	2	1	1	0	3	2	3	1	2	2	2	1	2	2	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:106710753G>T	ENST00000265717.4	+	2	594	c.335G>T	c.(334-336)cGt>cTt	p.R112L	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	112	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	p.R112H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTCACAAGGCGTGCCTCAGGT	0.303													30	117					6.90743e-12	8.03573e-12	1	0	T	106710753	G	T	106710753	3	4	382	1	0	0	0	0	1	0	0	0	12586	1145	40	3	341	3	PRKAR2B	7	106710753	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6521396	106710753	52427910	205	73374											
C7orf66	154907	broad.mit.edu	37	chr7	108524198	108524198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatctctgatccatcatgtGacgatattgagctgagaatt	11	14	9	7	1	2	4	1	4	1	1	4	6	3	4	1	0	1	2	1	0	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:108524198G>A	ENST00000379007.2	-	2	268	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	72						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCCATCATGTGACGATATTGA	0.413													113	134					0	0	0	0	A	108524198	G	A	108524198	3	1	382	1	0	0	0	0	1	0	0	0	2435	1290	45	2	137	2	C7orf66	7	108524198	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1813445	108524198	50614465	206	73375											
GRM8	2918	broad.mit.edu	37	chr7	126173498	126173498	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtcggaaggagcatatGattgtatctggtgctgcaat	10	11	12	8	2	1	1	0	1	1	0	2	3	1	3	1	3	3	4	1	3	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:126173498G>T	ENST00000339582.2	-	9	2746	c.1938C>A	c.(1936-1938)atC>atA	p.I646I	GRM8_ENST00000444921.2_Silent_p.I646I|GRM8_ENST00000358373.3_Silent_p.I646I|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	646					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGAGCATATGATTGTATCTG	0.463										HNSCC(24;0.065)			50	54					2.43468e-25	3.22416e-25	1	0	T	126173498	G	T	126173498	2	4	382	1	0	0	0	0	0	0	0	1	6853	1280	45	2		2	GRM8	7	126173498	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	17649300	126173498	32965165	207	73376											
FSCN3	29999	broad.mit.edu	37	chr7	127238524	127238524	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaatggctgatgggcacccCctggagtctgacacgttctt	7	11	12	11	1	2	2	0	2	2	0	2	3	2	3	2	3	0	4	2	3	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:127238524C>G	ENST00000265825.5	+	4	1215	c.996C>G	c.(994-996)ccC>ccG	p.P332P	FSCN3_ENST00000420086.2_Silent_p.P198P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	332						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATGGGCACCCCCTGGAGTCTG	0.557													47	142					0	0	0	0	G	127238524	C	G	127238524	2	3	382	1	0	0	0	0	0	0	0	1	6117	610	22	4		4	FSCN3	7	127238524	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1065026	127238524	31900139	208	73377											
CNOT4	4850	broad.mit.edu	37	chr7	135078968	135078968	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggacctttggcggttgtAgtgtgtgaagaggagttctg	6	13	16	6	1	1	2	0	1	1	1	1	4	1	4	2	4	0	3	2	4	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:135078968A>T	ENST00000428680.2	-	10	1599	c.1320T>A	c.(1318-1320)acT>acA	p.T440T	CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000423368.2_Silent_p.T443T|CNOT4_ENST00000541284.1_Silent_p.T443T|CNOT4_ENST00000315544.5_Silent_p.T443T|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Silent_p.T440T|CNOT4_ENST00000451834.1_Silent_p.T440T	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	443					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGGCGGTTGTAGTGTGTGAAG	0.498													86	87					0	0	0	0	T	135078968	A	T	135078968	2	4	382	1	0	0	0	0	0	0	0	1	3651	407	15	5		5	CNOT4	7	135078968	Silent	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	7840444	135078968	24059695	209	73378											
CHRM2	1129	broad.mit.edu	37	chr7	136700236	136700236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgtgctatattggcaCatatcccgagccagcaagag	12	9	10	10	1	0	2	0	1	0	1	1	3	1	2	2	1	3	3	2	1	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:136700236C>T	ENST00000445907.2	+	3	1152	c.624C>T	c.(622-624)caC>caT	p.H208H	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.H208H|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.H208H|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Silent_p.H208H|CHRM2_ENST00000320658.5_Silent_p.H208H|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.H208H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	208					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TATATTGGCACATATCCCGAG	0.468													17	61					0	0	0	0	T	136700236	C	T	136700236	2	4	382	1	0	0	0	0	0	0	0	1	3406	477	17	4		4	CHRM2	7	136700236	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1621268	136700236	22438427	210	73379											
SVOPL	136306	broad.mit.edu	37	chr7	138312990	138312990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggctctggctctcccCtgagtcccccccagtcacca	5	7	10	19	0	3	1	1	1	2	0	5	1	4	1	6	3	0	3	6	3	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:138312990C>T	ENST00000421622.1	-	7	830	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	SVOPL_ENST00000288513.5_Missense_Mutation_p.G176R|SVOPL_ENST00000419765.3_Missense_Mutation_p.G328R|SVOPL_ENST00000436657.1_Missense_Mutation_p.G176R			Q8N434	SVOPL_HUMAN	SVOP-like	328						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TGGCTCTCCCCTGAGTCCCCC	0.567													16	46					0	0	0	0	T	138312990	C	T	138312990	3	4	382	1	0	0	0	0	1	0	0	0	15514	681	24	4	520	4	SVOPL	7	138312990	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1612754	138312990	20825673	211	73380											
SVOPL	136306	broad.mit.edu	37	chr7	138333839	138333839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggtggggatgatcacaGaggccaagccaatgatgagc	12	6	15	8	1	1	4	1	3	0	1	1	6	1	5	2	4	2	0	2	4	2	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:138333839G>T	ENST00000421622.1	-	4	426	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	SVOPL_ENST00000288513.5_Missense_Mutation_p.S41Y|SVOPL_ENST00000419765.3_Missense_Mutation_p.S193Y|SVOPL_ENST00000436657.1_Missense_Mutation_p.S41Y			Q8N434	SVOPL_HUMAN	SVOP-like	193						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GATGATCACAGAGGCCAAGCC	0.542													20	62					1.74485e-21	2.2594e-21	1	0	T	138333839	G	T	138333839	3	4	382	1	0	0	0	0	1	0	0	0	15514	942	33	2	936	2	SVOPL	7	138333839	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	20849	138333839	20804824	212	73381											
MGAM	8972	broad.mit.edu	37	chr7	141765242	141765242	+	Frame_Shift_Del	DEL	G	G	-																															gggagacaacacggccgcatGggatcagctgaagaagtcta																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:141765242delG	ENST00000475668.2	+	38	4646	c.4592delG	c.(4591-4593)tgfs	p.W1531fs	MGAM_ENST00000549489.2_Frame_Shift_Del_p.W1531fs			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1531	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACGGCCGCATGGGATCAGCTG	0.617													10	17	---	---	---	---					-	141765242	G	-	141765242	7	5	382	1	0	1	0	1	0	0	0	0	9610	1357	47	0	4738	0	MGAM	7	141765242	Frame_Shift_Del	DEL	G	TCGA-D6-A74Q-01A-11D-A34J-08	3431403	141765242	17373421	213	73382											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914551	147914551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcagcaccaccaaggcgcCctgcattctcctctacatca	9	9	5	18	1	4	0	2	0	2	0	5	0	4	0	4	1	3	2	4	1	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:147914551C>T	ENST00000361727.3	+	19	3698	c.3182C>T	c.(3181-3183)cCc>cTc	p.P1061L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P120L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1061	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCAAGGCGCCCTGCATTCTC	0.572										HNSCC(39;0.1)			41	139					0	0	0	0	T	147914551	C	T	147914551	3	4	382	1	0	0	0	0	1	0	0	0	3677	623	22	4	3256	4	CNTNAP2	7	147914551	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	6149309	147914551	11224112	214	73383											
KCNH2	3757	broad.mit.edu	37	chr7	150648077	150648077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgaggcgctggcgcaGgggattggggatctggtgga	5	8	19	9	3	1	0	0	0	1	0	3	4	2	3	1	8	0	2	1	8	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:150648077G>A	ENST00000392968.2	-	6	2909	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	KCNH2_ENST00000330883.4_Silent_p.L353L|KCNH2_ENST00000430723.3_Silent_p.L693L|KCNH2_ENST00000262186.5_Silent_p.L693L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	693					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CGCTGGCGCAGGGGATTGGGG	0.652													27	37					0	0	0	0	A	150648077	G	A	150648077	2	1	382	1	0	0	0	0	0	0	0	1	8085	991	35	4		4	KCNH2	7	150648077	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2733526	150648077	8490586	215	73384											
DPP6	1804	broad.mit.edu	37	chr7	154593115	154593115	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagtttttcttcatcagAgccatcccccagggaggacg	10	9	10	12	2	3	1	2	0	1	1	4	4	4	3	3	2	1	1	3	2	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:154593115A>T	ENST00000404039.1	+	13	1745	c.1158A>T	c.(1156-1158)agA>agT	p.R386S	DPP6_ENST00000427557.1_Missense_Mutation_p.R343S|DPP6_ENST00000332007.3_Missense_Mutation_p.R388S|DPP6_ENST00000377770.3_Missense_Mutation_p.R450S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	450					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTCATCAGAGCCATCCCCC	0.483													4	12					0	0	0	0	T	154593115	A	T	154593115	3	4	382	1	0	0	0	0	1	0	0	0	4766	301	11	5	1516	5	DPP6	7	154593115	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	3945038	154593115	4545548	216	73385											
SGCZ	137868	broad.mit.edu	37	chr8	14095174	14095174	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcctgtcagactgtaaGaccagcggactatcctggga	11	9	10	11	1	1	2	1	0	0	2	3	4	3	4	3	2	1	1	3	2	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:14095174G>T	ENST00000382080.1	-	4	1066	c.351C>A	c.(349-351)gtC>gtA	p.V117V	SGCZ_ENST00000421524.2_Silent_p.V70V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	104					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGACTGTAAGACCAGCGGAC	0.368													86	258					9.54843e-35	1.30899e-34	1	0	T	14095174	G	T	14095174	2	4	382	1	0	0	0	0	0	0	0	1	14291	929	33	2		2	SGCZ	8	14095174	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		14095174	132268848	217	73386											
NEFM	4741	broad.mit.edu	37	chr8	24772189	24772189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagagtggttcaaatgcCgctacgccaagctcaccgag	11	6	11	13	4	2	1	2	0	0	1	2	3	2	1	4	1	3	3	4	1	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:24772189C>A	ENST00000221166.5	+	1	1665	c.883C>A	c.(883-885)Cgc>Agc	p.R295S	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R295S|NEFM_ENST00000437366.2_Missense_Mutation_p.R295S|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	295	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTTCAAATGCCGCTACGCCAA	0.607													8	27					5.18039e-06	5.52071e-06	1	0	A	24772189	C	A	24772189	3	1	382	1	0	0	0	0	1	0	0	0	10386	652	23	3	885	3	NEFM	8	24772189	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	10677015	24772189	121591833	218	73387											
BRF2	55290	broad.mit.edu	37	chr8	37702660	37702660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaccaactgcattgttCgagacagcatcttctctttg	8	13	7	13	1	2	1	0	0	2	1	5	2	3	1	2	0	3	4	2	0	1	4	rs143386716	by1000genomes	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:37702660C>A	ENST00000220659.6	-	4	728	c.608G>T	c.(607-609)cGa>cTa	p.R203L	BRF2_ENST00000520601.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	203					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CTGCATTGTTCGAGACAGCAT	0.517													25	54					4.47668e-21	5.74589e-21	1	0	A	37702660	C	A	37702660	3	1	382	1	0	0	0	0	1	0	0	0	1519	884	31	3	655	3	BRF2	8	37702660	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	12930471	37702660	108661362	219	73388											
SNTG1	54212	broad.mit.edu	37	chr8	51617248	51617248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcagtggagctggaaaGtgacctcgcccagtgggaaa	10	8	13	10	1	1	1	1	1	1	0	3	4	1	4	2	3	1	1	2	3	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:51617248G>T	ENST00000522124.1	+	16	1788	c.1127G>T	c.(1126-1128)aGt>aTt	p.S376I	SNTG1_ENST00000518864.1_Missense_Mutation_p.S376I|SNTG1_ENST00000517473.1_Missense_Mutation_p.S376I|SNTG1_ENST00000276467.5_Missense_Mutation_p.S376I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	376	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GAGCTGGAAAGTGACCTCGCC	0.557													20	48					5.03518e-11	5.78848e-11	1	0	T	51617248	G	T	51617248	3	4	382	1	0	0	0	0	1	0	0	0	14962	1029	36	4	1181	4	SNTG1	8	51617248	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	13914588	51617248	94746774	220	73389											
CRH	1392	broad.mit.edu	37	chr8	67089290	67089290	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgcctcctggtggccgccGagggcattcctagcgccgcg	3	7	16	15	5	0	0	0	0	0	0	2	1	2	0	6	4	2	1	6	4	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:67089290G>C	ENST00000276571.3	-	2	869	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	141					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GGTGGCCGCCGAGGGCATTCC	0.672											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	23					0	0	0	0	C	67089290	G	C	67089290	2	2	382	1	0	0	0	0	0	0	0	1	3899	1045	37	3		3	CRH	8	67089290	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	15472042	67089290	79274732	221	73390											
ZFHX4	79776	broad.mit.edu	37	chr8	77616693	77616693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagttagaggacagtgacGtggaaaatctaacaggggag	14	6	16	5	2	1	2	0	1	1	1	1	6	1	5	0	4	1	1	0	4	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:77616693G>T	ENST00000521891.2	+	2	818	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.V124L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V124L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V124L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGACAGTGACGTGGAAAATCT	0.488										HNSCC(33;0.089)			23	64					1.22574e-08	1.36609e-08	1	0	T	77616693	G	T	77616693	3	4	382	1	0	0	0	0	1	0	0	0	17730	1145	40	3	372	3	ZFHX4	8	77616693	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	10527403	77616693	68747329	222	73391											
CNGB3	54714	broad.mit.edu	37	chr8	87679200	87679200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgggctggataaataGcatatcataaaggtagatga	15	10	12	4	0	2	2	1	1	1	1	2	4	2	3	0	3	1	3	0	3	7	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:87679200G>A	ENST00000320005.5	-	6	852	c.805C>T	c.(805-807)Cta>Tta	p.L269L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	269					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGGATAAATAGCATATCATAA	0.423													13	44					0	0	0	0	A	87679200	G	A	87679200	2	1	382	1	0	0	0	0	0	0	0	1	3631	962	34	4		4	CNGB3	8	87679200	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	10062507	87679200	58684822	223	73392											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886175	88886175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgtctgcttcctcgaGcagtcgcggtcttttgctct	2	16	10	13	3	3	0	0	0	3	0	6	1	4	0	1	1	4	4	1	1	0	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:88886175G>T	ENST00000319675.3	-	1	121	c.25C>A	c.(25-27)Ctc>Atc	p.L9I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	9										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCTTCCTCGAGCAGTCGCGGT	0.512													22	47					8.10497e-08	8.86387e-08	1	0	T	88886175	G	T	88886175	3	4	382	1	0	0	0	0	1	0	0	0	4305	971	34	4	1166	4	DCAF4L2	8	88886175	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1206975	88886175	57477847	224	73393											
CCNE2	9134	broad.mit.edu	37	chr8	95897703	95897703	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attattacctttaatataatGagttccatccttaagatatc	14	17	3	7	0	0	2	0	1	0	1	3	2	2	2	3	0	1	1	3	0	7	9			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:95897703G>C	ENST00000520509.1	-	8	936	c.684C>G	c.(682-684)ctC>ctG	p.L228L	CCNE2_ENST00000308108.4_Silent_p.L228L|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Silent_p.L228L			O96020	CCNE2_HUMAN	cyclin E2	228					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTAATATAATGAGTTCCATCC	0.299													38	112					0	0	0	0	C	95897703	G	C	95897703	2	2	382	1	0	0	0	0	0	0	0	1	2950	1277	45	2		2	CCNE2	8	95897703	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	7011528	95897703	50466319	225	73394											
TSPYL5	85453	broad.mit.edu	37	chr8	98289495	98289495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccgtcgctgggggccccGaccctgcatccctctcttcc	2	10	9	20	3	1	0	0	0	1	0	6	1	4	0	6	2	1	2	6	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:98289495G>A	ENST00000322128.3	-	1	681	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	193					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGGGGCCCCGACCCTGCATC	0.622													23	60					0	0	0	0	A	98289495	G	A	98289495	3	1	382	1	0	0	0	0	1	0	0	0	16757	1059	37	1	679	1	TSPYL5	8	98289495	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2391792	98289495	48074527	226	73395											
LRP12	29967	broad.mit.edu	37	chr8	105507375	105507375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcaatcaattgtccatacGagggaggagcttctcttctt	10	12	10	9	1	3	0	1	0	2	0	5	4	4	2	1	2	3	2	1	2	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:105507375G>A	ENST00000276654.5	-	6	1751	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	LRP12_ENST00000424843.2_Missense_Mutation_p.S529L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	548					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			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)			TTGTCCATACGAGGGAGGAGC	0.363													40	88					0	0	0	0	A	105507375	G	A	105507375	3	1	382	1	0	0	0	0	1	0	0	0	9018	1059	37	1	944	1	LRP12	8	105507375	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	7217880	105507375	40856647	227	73396											
NOV	4856	broad.mit.edu	37	chr8	120431405	120431405	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaccctaggagtagaagtCtctgactcaagtgtcaactg	11	9	10	11	0	3	2	2	1	1	1	4	3	3	3	2	1	1	1	2	1	5	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:120431405C>G	ENST00000259526.3	+	4	824	c.597C>G	c.(595-597)gtC>gtG	p.V199V		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	199					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGTAGAAGTCTCTGACTCAA	0.478													66	59					0	0	0	0	G	120431405	C	G	120431405	2	3	382	1	0	0	0	0	0	0	0	1	10623	900	32	2		2	NOV	8	120431405	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	14924030	120431405	25932617	228	73397											
ENPP2	5168	broad.mit.edu	37	chr8	120608131	120608131	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataatgatccatcctatgtaTttttcttcttcttttctttg	7	23	3	8	0	4	1	0	1	4	0	6	1	6	1	2	0	0	1	2	0	3	10			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:120608131T>A	ENST00000259486.6	-	12	1133	c.1084A>T	c.(1084-1086)Ata>Tta	p.I362L	ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATCCTATGTATTTTTCTTCTT	0.448													58	105					0	0	0	0	A	120608131	T	A	120608131	3	1	382	1	0	0	0	0	1	0	0	0	5168	1493	52	5	1802	5	ENPP2	8	120608131	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	176726	120608131	25755891	229	73398											
ADCY8	114	broad.mit.edu	37	chr8	132051852	132051852	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaccacgccgctgtacTgcaggtacgtgtgggaggtg	7	8	17	9	3	0	1	0	1	0	0	0	2	0	2	2	4	3	4	2	4	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:132051852T>A	ENST00000286355.5	-	1	2820	c.728A>T	c.(727-729)cAg>cTg	p.Q243L	ADCY8_ENST00000377928.3_Missense_Mutation_p.Q243L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	243					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCGCTGTACTGCAGGTACGT	0.642										HNSCC(32;0.087)			8	23					0	0	0	0	A	132051852	T	A	132051852	3	1	382	1	0	0	0	0	1	0	0	0	300	1580	55	5	3099	5	ADCY8	8	132051852	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	11443721	132051852	14312170	230	73399											
LRRC6	23639	broad.mit.edu	37	chr8	133673769	133673769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccggcaccatttatcaaTgtgttctagtctttctattt	8	18	5	10	1	4	0	1	0	3	0	5	0	5	0	2	1	0	2	2	1	4	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:133673769T>C	ENST00000519595.1	-	2	213	c.115A>G	c.(115-117)Att>Gtt	p.I39V	LRRC6_ENST00000518642.1_Missense_Mutation_p.I39V|LRRC6_ENST00000250173.1_Missense_Mutation_p.I39V|LRRC6_ENST00000520446.1_5'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	39						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CATTTATCAATGTGTTCTAGT	0.358													27	84					0	0	0	0	C	133673769	T	C	133673769	3	2	382	1	0	0	0	0	1	0	0	0	9080	1464	51	5	1329	5	LRRC6	8	133673769	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	1621917	133673769	12690253	231	73400											
TG	7038	broad.mit.edu	37	chr8	133905937	133905937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttatttttattcccctaggtCctggctcctgtgaggaagca	7	15	9	10	0	0	1	0	1	0	0	3	2	3	2	4	3	1	2	4	3	4	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:133905937C>T	ENST00000220616.4	+	11	2804	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	TG_ENST00000377869.1_Missense_Mutation_p.P922S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	922	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.P922T(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCCCTAGGTCCTGGCTCCTG	0.512													7	86					0	0	0	0	T	133905937	C	T	133905937	3	4	382	1	0	0	0	0	1	0	0	0	15907	855	30	2	2806	2	TG	8	133905937	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	232168	133905937	12458085	232	73401											
SLA	6503	broad.mit.edu	37	chr8	134072415	134072415	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtttcccatttctttcttTttccctggggccgctggtga	2	18	9	12	1	2	1	0	1	2	0	4	1	4	1	3	3	0	2	3	3	0	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:134072415T>C	ENST00000395352.3	-	2	390	c.42A>G	c.(40-42)aaA>aaG	p.K14K	TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Silent_p.K14K|SLA_ENST00000427060.2_Silent_p.K37K|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000338087.5_5'UTR|SLA_ENST00000524345.1_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTTCTTTCTTTTTCCCTGGGG	0.582													22	63					0	0	0	0	C	134072415	T	C	134072415	2	2	382	1	0	0	0	0	0	0	0	1	14451	1838	64	5		5	SLA	8	134072415	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	166478	134072415	12291607	233	73402											
FAM135B	51059	broad.mit.edu	37	chr8	139163460	139163460	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcctctcactgacttcCtcatccaacgtgctggaatg	10	11	6	14	1	2	1	2	1	1	0	6	2	5	2	3	1	3	1	3	1	3	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:139163460C>T	ENST00000395297.1	-	13	3428	c.3258G>A	c.(3256-3258)gaG>gaA	p.E1086E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1086										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)			CACTGACTTCCTCATCCAACG	0.468										HNSCC(54;0.14)			18	58					0	0	0	0	T	139163460	C	T	139163460	2	4	382	1	0	0	0	0	0	0	0	1	5490	680	24	4		4	FAM135B	8	139163460	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5091045	139163460	7200562	234	73403											
FAM135B	51059	broad.mit.edu	37	chr8	139209765	139209765	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgggcccttacccagctCcgtgtgtggcagctctggga	4	10	13	14	1	1	0	0	0	1	0	3	1	3	1	4	3	3	3	4	3	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:139209765C>A	ENST00000395297.1	-	8	987	c.817G>T	c.(817-819)Gag>Tag	p.E273*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	273										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)			TTACCCAGCTCCGTGTGTGGC	0.602										HNSCC(54;0.14)			23	39					5.45024e-15	6.60361e-15	1	0	A	139209765	C	A	139209765	4	1	382	1	0	0	0	0	0	1	0	0	5490	864	30	2	3455	2	FAM135B	8	139209765	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	46305	139209765	7154257	235	73404											
PTPRD	5789	broad.mit.edu	37	chr9	8317912	8317912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgcccaggtactctaGtgcggcacgataggaaaact	13	7	11	10	2	1	0	0	0	1	0	1	2	1	1	1	3	5	3	1	3	6	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:8317912G>T	ENST00000381196.4	-	43	6244	c.5701C>A	c.(5701-5703)Cta>Ata	p.L1901I	PTPRD_ENST00000540109.1_Missense_Mutation_p.L1901I|PTPRD_ENST00000537002.1_Missense_Mutation_p.L1491I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L1494I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1901I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L1495I|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1888I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L1494I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L1491I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L1494I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1879I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1901	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGGTACTCTAGTGCGGCACGA	0.428										TSP Lung(15;0.13)			53	61					2.47907e-22	3.22444e-22	1	0	T	8317912	G	T	8317912	3	4	382	1	0	0	0	0	1	0	0	0	12881	1020	36	4	41	4	PTPRD	9	8317912	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		8317912	132895519	236	73405											
MPDZ	8777	broad.mit.edu	37	chr9	13183422	13183422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcttttcctttgtaccttagGaggagatgatggaagggaag	10	12	14	5	0	0	2	0	1	0	1	1	6	1	5	2	4	1	2	2	4	4	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:13183422G>C	ENST00000319217.7	-	19	2891	c.2644C>G	c.(2644-2646)Cct>Gct	p.P882A	MPDZ_ENST00000546205.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381015.4_Missense_Mutation_p.P882A|MPDZ_ENST00000381022.2_Missense_Mutation_p.P882A|MPDZ_ENST00000536827.1_Missense_Mutation_p.P882A|MPDZ_ENST00000541718.1_Missense_Mutation_p.P882A|MPDZ_ENST00000447879.1_Missense_Mutation_p.P882A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	882					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTACCTTAGGAGGAGATGAT	0.398													12	14					0	0	0	0	C	13183422	G	C	13183422	3	2	382	1	0	0	0	0	1	0	0	0	9792	1174	41	2	3593	2	MPDZ	9	13183422	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4865510	13183422	128030009	237	73406											
CDKN2A	1029	broad.mit.edu	37	chr9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagacggccccaggcatCgcgcacgtccagccgcgccc	6	2	14	19	6	0	1	0	0	0	1	2	1	1	1	5	3	1	3	5	3	0	0	rs121913381		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:21971036C>A	ENST00000579755.1	-	2	657	c.365G>T	c.(364-366)cGa>cTa	p.R122L	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	138			G -> R (in CMM2).|G -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	10					1.08611e-07	1.18558e-07	1	0	A	21971036	C	A	21971036	3	1	382	1	0	0	0	0	1	0	0	0	3190	884	31	3	156	3	CDKN2A	9	21971036	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	8787614	21971036	119242395	238	73407											
LINGO2	158038	broad.mit.edu	37	chr9	27949813	27949813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgcctgcttcaatagtgCtgatgggattgtaggagagg	10	11	14	6	0	1	2	1	1	0	1	1	4	1	3	1	3	3	3	1	3	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:27949813C>A	ENST00000379992.2	-	6	1306	c.857G>T	c.(856-858)aGc>aTc	p.S286I	LINGO2_ENST00000308675.3_Missense_Mutation_p.S286I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	286						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTCAATAGTGCTGATGGGATT	0.507													38	39					9.45814e-24	1.24125e-23	1	0	A	27949813	C	A	27949813	3	1	382	1	0	0	0	0	1	0	0	0	8870	797	28	4	967	4	LINGO2	9	27949813	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5978777	27949813	113263618	239	73408											
CNTNAP3	79937	broad.mit.edu	37	chr9	39178284	39178284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaagaaataacgtctctTattggttttaaaggtttttt	12	19	6	4	1	2	1	1	0	1	1	3	1	2	1	0	2	1	2	0	2	6	9			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:39178284T>C	ENST00000297668.6	-	5	685	c.612A>G	c.(610-612)atA>atG	p.I204M	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I204M|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I204M|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I116M|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I204M	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	204	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAACGTCTCTTATTGGTTTTA	0.328													4	181					0	0	0	0	C	39178284	T	C	39178284	3	2	382	1	0	0	0	0	1	0	0	0	3678	1744	61	5	3334	5	CNTNAP3	9	39178284	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	11228471	39178284	102035147	240	73409											
PCSK5	5125	broad.mit.edu	37	chr9	78774046	78774046	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagacctggccatctacctGacctcgccctctggaactag	8	8	10	15	1	2	2	0	1	2	1	3	4	2	3	5	3	2	0	5	3	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:78774046G>C	ENST00000545128.1	+	12	2116	c.1578G>C	c.(1576-1578)ctG>ctC	p.L526L	PCSK5_ENST00000376752.4_Silent_p.L526L|PCSK5_ENST00000376767.3_Silent_p.L526L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	526	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCATCTACCTGACCTCGCCCT	0.577													23	43					0	0	0	0	C	78774046	G	C	78774046	2	2	382	1	0	0	0	0	0	0	0	1	11674	1277	45	2		2	PCSK5	9	78774046	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	39595762	78774046	62439385	241	73410											
KLF4	9314	broad.mit.edu	37	chr9	110249793	110249793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggccggtggccattgctGagagggggtccagcgcccaa	6	5	17	13	3	0	1	0	1	0	1	1	2	1	1	5	5	2	1	5	5	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:110249793G>A	ENST00000374672.4	-	3	1355	c.882C>T	c.(880-882)ctC>ctT	p.L294L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	294	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCCATTGCTGAGAGGGGGTC	0.692													7	14					0	0	0	0	A	110249793	G	A	110249793	2	1	382	1	0	0	0	0	0	0	0	1	8400	1277	45	2		2	KLF4	9	110249793	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	31475747	110249793	30963638	242	73411											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900456	112900456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccaaagattctgcctgctGaagacagggcgctcagggaa	12	7	12	10	1	2	3	1	1	1	2	2	4	2	4	2	2	3	2	2	2	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:112900456G>A	ENST00000374530.3	+	8	2812	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AKAP2_ENST00000434623.2_Missense_Mutation_p.E736K|AKAP2_ENST00000259318.7_Missense_Mutation_p.E647K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E878K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E736K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E878K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E878K|AKAP2_ENST00000482335.1_3'UTR	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		647							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCTGCCTGCTGAAGACAGGGC	0.567													20	27					0	0	0	0	A	112900456	G	A	112900456	3	1	382	1	0	0	0	0	1	0	0	0	11481	1291	45	2	2662	2	PALM2-AKAP2	9	112900456	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2650663	112900456	28312975	243	73412											
COL27A1	85301	broad.mit.edu	37	chr9	117002759	117002759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggaccccgtgggcagctgGggcccgaggtgagactgtct	5	6	18	12	3	1	1	0	1	1	1	1	4	1	2	3	5	1	2	3	5	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:117002759G>A	ENST00000356083.3	+	21	3218	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	943	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGCAGCTGGGGCCCGAGGT	0.662													40	82					0	0	0	0	A	117002759	G	A	117002759	3	1	382	1	0	0	0	0	1	0	0	0	3715	1232	43	4	2909	4	COL27A1	9	117002759	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4102303	117002759	24210672	244	73413											
MEGF9	1955	broad.mit.edu	37	chr9	123370287	123370287	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggttccaattcactcgaTtctaaaagagagaatgccaa	15	10	7	9	1	3	2	2	0	1	2	5	4	4	2	2	1	1	1	2	1	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:123370287T>A	ENST00000373930.3	-	5	1200	c.1087_splice	c.e5-1	p.K363_splice	MEGF9_ENST00000426959.1_Splice_Site_p.K400_splice	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	363	Laminin EGF-like 4.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ATTCACTCGATTCTAAAAGAG	0.343													36	91					0	0	0	0	A	123370287	T	A	123370287	5	1	382	1	0	0	0	0	0	0	1	0	9533	1507	52	5	727	5	MEGF9	9	123370287	Splice_Site	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	6367528	123370287	17843144	245	73414											
DAB2IP	153090	broad.mit.edu	37	chr9	124544672	124544672	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgccctgacccagctGaaagagaggtacagcatgca	13	6	12	10	0	0	4	0	3	0	1	0	5	0	4	2	1	5	4	2	1	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:124544672G>T	ENST00000408936.3	+	16	3647	c.3465G>T	c.(3463-3465)ctG>ctT	p.L1155L	DAB2IP_ENST00000259371.2_Silent_p.L1127L|DAB2IP_ENST00000309989.1_Silent_p.L1031L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1155					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGACCCAGCTGAAAGAGAGGT	0.567													34	92					9.17885e-22	1.19121e-21	1	0	T	124544672	G	T	124544672	2	4	382	1	0	0	0	0	0	0	0	1	4252	1277	45	2		2	DAB2IP	9	124544672	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1174385	124544672	16668759	246	73415											
OR1J4	26219	broad.mit.edu	37	chr9	125281913	125281913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacactctcctcctggcccAgctgtccttttgtgctgaca	5	13	7	16	0	2	1	1	1	1	0	5	1	4	1	4	1	2	2	4	1	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:125281913A>C	ENST00000340750.1	+	1	494	c.494A>C	c.(493-495)cAg>cCg	p.Q165P		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTCCTGGCCCAGCTGTCCTTT	0.502													38	74					0	0	0	0	C	125281913	A	C	125281913	3	2	382	1	0	0	0	0	1	0	0	0	11032	188	7	5	496	5	OR1J4	9	125281913	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	737241	125281913	15931518	247	73416											
OR1K1	392392	broad.mit.edu	37	chr9	125563199	125563199	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccaggccacatcccgAcgcgaggcagagtggggccg	8	5	14	14	4	0	1	0	0	0	1	2	3	2	1	4	4	1	1	4	4	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:125563199A>T	ENST00000277309.2	+	1	830	c.798A>T	c.(796-798)cgA>cgT	p.R266R		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CCACATCCCGACGCGAGGCAG	0.602													45	124					0	0	0	0	T	125563199	A	T	125563199	2	4	382	1	0	0	0	0	0	0	0	1	11033	262	10	5		5	OR1K1	9	125563199	Silent	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	281286	125563199	15650232	248	73417											
ODF2	4957	broad.mit.edu	37	chr9	131233613	131233613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcaaaaaggtgagcgccaGatggccaaaaggttcctgga	14	6	13	8	1	0	2	0	1	0	1	1	3	1	3	3	4	2	2	3	4	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:131233613G>C	ENST00000303890.5	+	8	960	c.375G>C	c.(373-375)caG>caC	p.Q125H	ODF2_ENST00000393533.2_Missense_Mutation_p.Q149H|ODF2_ENST00000372814.3_Missense_Mutation_p.Q193H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372796.4_Missense_Mutation_p.Q149H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q68H|ODF2_ENST00000372807.5_Missense_Mutation_p.Q144H|ODF2_ENST00000546203.1_Missense_Mutation_p.Q130H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q125H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q130H|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000434106.2_Missense_Mutation_p.Q149H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q144H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	149					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GTGAGCGCCAGATGGCCAAAA	0.577													4	73					0	0	0	0	C	131233613	G	C	131233613	3	2	382	1	0	0	0	0	1	0	0	0	10898	933	33	2	520	2	ODF2	9	131233613	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	5670414	131233613	9979818	249	73418											
SURF6	6838	broad.mit.edu	37	chr9	136199074	136199074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcctgcaggcgctccagCagctgccggtagttcctccc	4	8	12	17	3	0	0	0	0	0	0	3	0	3	0	5	2	5	6	5	2	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:136199074C>T	ENST00000372022.4	-	5	982	c.717G>A	c.(715-717)ctG>ctA	p.L239L	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	239						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GGCGCTCCAGCAGCTGCCGGT	0.672													28	67					0	0	0	0	T	136199074	C	T	136199074	2	4	382	1	0	0	0	0	0	0	0	1	15496	697	25	4		4	SURF6	9	136199074	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4965461	136199074	5014357	250	73419											
EXD3	54932	broad.mit.edu	37	chr9	140267956	140267956	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccgccagggaggggccCtctccccgctggccccggca	4	3	15	19	3	1	0	0	0	1	0	2	1	1	1	7	6	0	2	7	6	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:140267956C>A	ENST00000342129.4	-	0	411				EXD3_ENST00000340951.4_Missense_Mutation_p.E72D|EXD3_ENST00000479452.1_Missense_Mutation_p.E72D|EXD3_ENST00000475006.1_5'UTR			Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGGAGGGGCCCTCTCCCCGCT	0.701													5	14					0.014758	0.014937	1	0	A	140267956	C	A	140267956	1	1	382	1	0	0	0	0	0	0	0	0	5336	680	24	4		4	EXD3	9	140267956	Translation_Start_Site	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4068882	140267956	945475	251	73420											
ITIH2	3698	broad.mit.edu	37	chr10	7765479	7765479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacccaattcccaaaaacatCctctttgtcatcgatgtgag	12	11	6	12	1	2	1	1	1	1	0	5	3	4	1	3	0	1	0	3	0	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:7765479C>T	ENST00000358415.4	+	9	1099	c.933C>T	c.(931-933)atC>atT	p.I311I	ITIH2_ENST00000379587.4_Silent_p.I300I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	311	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAAAAACATCCTCTTTGTCA	0.418													49	89					0	0	0	0	T	7765479	C	T	7765479	2	4	382	1	0	0	0	0	0	0	0	1	7957	845	30	2		2	ITIH2	10	7765479	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		7765479	127769268	252	73421											
PHYH	5264	broad.mit.edu	37	chr10	13330428	13330428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagcacaaccagacagcCgttgttccggctgatgtgct	8	9	13	11	2	0	2	0	1	0	1	1	3	1	3	3	2	4	5	3	2	1	2	rs104894173		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:13330428C>T	ENST00000396920.3	-	6	963	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	PHYH_ENST00000396913.2_Missense_Mutation_p.G104S|PHYH_ENST00000263038.4_Missense_Mutation_p.G204S			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	204					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	p.G204S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	ACCAGACAGCCGTTGTTCCGG	0.627													12	37					0	0	0	0	T	13330428	C	T	13330428	3	4	382	1	0	0	0	0	1	0	0	0	11936	652	23	1	422	1	PHYH	10	13330428	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5564949	13330428	122204319	253	73422											
PRPF18	8559	broad.mit.edu	37	chr10	13642274	13642274	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaggaggaccagaaaccaTtaacttcatcgaatccagtg	16	7	9	9	1	1	2	1	0	0	2	3	5	2	4	3	2	2	0	3	2	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:13642274T>C	ENST00000378572.3	+	3	335	c.175T>C	c.(175-177)Tta>Cta	p.L59L		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	59					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CCAGAAACCATTAACTTCATC	0.338													34	70					0	0	0	0	C	13642274	T	C	13642274	2	2	382	1	0	0	0	0	0	0	0	1	12643	1490	52	5		5	PRPF18	10	13642274	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	311846	13642274	121892473	254	73423											
DCLRE1C	64421	broad.mit.edu	37	chr10	14977537	14977537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctcctgtgtacaggacaGttccattattgccctgaaat	10	13	8	10	0	1	1	0	1	1	0	3	2	2	2	3	1	2	2	3	1	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:14977537G>T	ENST00000453695.2	-	6	473	c.29C>A	c.(28-30)aCt>aAt	p.T10N	DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T130N|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T15N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T130N	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	130					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTACAGGACAGTTCCATTATT	0.443								Non-homologous end-joining					56	125					3.28156e-27	4.38542e-27	1	0	T	14977537	G	T	14977537	3	4	382	1	0	0	0	0	1	0	0	0	4328	1029	36	4	1725	4	DCLRE1C	10	14977537	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1335263	14977537	120557210	255	73424											
ITGA8	8516	broad.mit.edu	37	chr10	15655747	15655747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaagctgggcatctaCagtcacaaccggtcttgctc	10	8	10	13	1	3	1	1	0	2	1	4	1	3	1	1	2	5	4	1	2	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:15655747C>G	ENST00000378076.3	-	15	1818	c.1465G>C	c.(1465-1467)Gta>Cta	p.V489L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	489					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGGGCATCTACAGTCACAACC	0.468													42	81					0	0	0	0	G	15655747	C	G	15655747	3	3	382	1	0	0	0	0	1	0	0	0	7935	478	17	4	1790	4	ITGA8	10	15655747	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	678210	15655747	119879000	256	73425											
SLC39A12	221074	broad.mit.edu	37	chr10	18242118	18242118	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttcccctttaccacAgaaattcctttggttacaag	10	17	4	10	0	0	1	0	0	0	1	2	1	2	1	4	1	2	1	4	1	5	8			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:18242118A>T	ENST00000377369.2	+	2	187		c.e2-1		SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000377374.4_Splice_Site	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			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						CCTTTACCACAGAAATTCCTT	0.433													25	29					0	0	0	0	T	18242118	A	T	18242118	5	4	382	1	0	0	0	0	0	0	1	0	14703	202	7	5		5	SLC39A12	10	18242118	Splice_Site	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	2586371	18242118	117292629	257	73426											
KIAA1217	56243	broad.mit.edu	37	chr10	24832592	24832592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagactttcaactatctttGaggaatgtgatgaggaatta	14	13	10	4	0	2	4	1	3	1	1	2	7	2	6	0	2	1	0	0	2	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:24832592G>A	ENST00000376451.2	+	14	3702	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1465K|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1465					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AACTATCTTTGAGGAATGTGA	0.438													20	46					0	0	0	0	A	24832592	G	A	24832592	3	1	382	1	0	0	0	0	1	0	0	0	8267	1291	45	2	4467	2	KIAA1217	10	24832592	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6590474	24832592	110702155	258	73427											
MYO3A	53904	broad.mit.edu	37	chr10	26285423	26285423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatattcttgtttagctctGcagtggaggatcagtgactg	10	14	11	6	0	3	1	1	1	2	0	3	3	3	3	0	2	2	3	0	2	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:26285423G>T	ENST00000265944.5	+	5	474	c.308G>T	c.(307-309)tGc>tTc	p.C103F	MYO3A_ENST00000376302.1_Missense_Mutation_p.C103F|MYO3A_ENST00000543632.1_Missense_Mutation_p.C103F|MYO3A_ENST00000376301.1_Missense_Mutation_p.C103F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	103	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTTTAGCTCTGCAGTGGAGGA	0.348													4	48					0.00909568	0.00923805	1	0	T	26285423	G	T	26285423	3	4	382	1	0	0	0	0	1	0	0	0	10146	1319	46	4	318	4	MYO3A	10	26285423	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1452831	26285423	109249324	259	73428											
RBP3	5949	broad.mit.edu	37	chr10	48389980	48389980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacacagggcagcacccCgctgccctcccacgtctggc	6	4	9	22	2	1	0	0	0	1	0	2	0	2	0	6	2	2	3	6	2	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:48389980C>A	ENST00000224600.4	-	1	1011	c.898G>T	c.(898-900)Ggg>Tgg	p.G300W		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	300	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCAGCACCCCGCTGCCCTCC	0.677													18	35					1.56452e-12	1.82736e-12	1	0	A	48389980	C	A	48389980	3	1	382	1	0	0	0	0	1	0	0	0	13239	652	23	3	2861	3	RBP3	10	48389980	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	22104557	48389980	87144767	260	73429											
FRMPD2	143162	broad.mit.edu	37	chr10	49440330	49440330	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaataggatttcccttttttGgtctgaaaacaacaacagta	15	13	6	7	0	1	1	0	1	1	0	2	2	2	2	1	2	3	1	1	2	7	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:49440330G>C	ENST00000374201.3	-	10	1298	c.996C>G	c.(994-996)acC>acG	p.T332T	FRMPD2_ENST00000407470.4_Silent_p.T301T|FRMPD2_ENST00000305531.3_Silent_p.T308T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	332					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCCCTTTTTTGGTCTGAAAAC	0.423													11	27					0	0	0	0	C	49440330	G	C	49440330	2	2	382	1	0	0	0	0	0	0	0	1	6106	1335	47	4		4	FRMPD2	10	49440330	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1050350	49440330	86094417	261	73430											
ARHGAP22	58504	broad.mit.edu	37	chr10	49812818	49812818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacttacccctcctggcCtgcctgatctttgggctcag	4	13	10	14	0	2	1	1	1	1	0	3	2	3	2	5	3	2	1	5	3	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:49812818C>A	ENST00000249601.4	-	1	320	c.24G>T	c.(22-24)caG>caT	p.Q8H	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.Q8H|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Intron	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	8					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCTCCTGGCCTGCCTGATCT	0.612													18	43					2.94398e-08	3.23174e-08	1	0	A	49812818	C	A	49812818	3	1	382	1	0	0	0	0	1	0	0	0	874	680	24	4	2112	4	ARHGAP22	10	49812818	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	372488	49812818	85721929	262	73431											
MYPN	84665	broad.mit.edu	37	chr10	69926399	69926399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccgtgaaagagccccCtccagttctggccaaaccca	9	7	7	18	1	1	2	0	1	1	1	3	2	3	2	7	1	2	1	7	1	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:69926399C>G	ENST00000358913.5	+	10	2437	c.1949C>G	c.(1948-1950)cCt>cGt	p.P650R	MYPN_ENST00000540630.1_Missense_Mutation_p.P650R|MYPN_ENST00000354393.2_Missense_Mutation_p.P375R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	650	Interaction with NEB.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAAGAGCCCCCTCCAGTTCTG	0.483													26	21					0	0	0	0	G	69926399	C	G	69926399	3	3	382	1	0	0	0	0	1	0	0	0	10168	681	24	4	1983	4	MYPN	10	69926399	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	20113581	69926399	65608348	263	73432											
PDE6C	5146	broad.mit.edu	37	chr10	95381781	95381781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacacggttagatcatatctGaactgtgaacgatactccat	13	12	7	9	2	2	3	1	2	1	1	3	4	3	3	1	1	4	1	1	1	6	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:95381781G>A	ENST00000371447.3	+	4	954	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	272	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GATCATATCTGAACTGTGAAC	0.403													6	89					0	0	0	0	A	95381781	G	A	95381781	2	1	382	1	0	0	0	0	0	0	0	1	11718	1277	45	2		2	PDE6C	10	95381781	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	25455382	95381781	40152966	264	73433											
CYP2C9	1559	broad.mit.edu	37	chr10	96748783	96748783	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgcttcattcctgtcTgaagaagagcagatggcctg	9	11	12	9	0	2	4	1	1	1	3	3	4	3	4	2	1	3	3	2	1	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:96748783T>A	ENST00000260682.6	+	9	1483	c.1471T>A	c.(1471-1473)Tga>Aga	p.*491R		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	0					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CATTCCTGTCTGAAGAAGAGC	0.507													72	40					0	0	0	0	A	96748783	T	A	96748783	4	1	382	1	0	0	0	0	0	0	0	0	4200	1593	55	5	1505	5	CYP2C9	10	96748783	Nonstop_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	1367002	96748783	38785964	265	73434											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363339	105363339	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttgagcttccgcggggagtCctggctctcactggcccccg	3	9	13	16	3	1	1	1	1	1	0	4	2	3	2	4	4	1	2	4	4	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105363339C>G	ENST00000369774.4	-	15	1912	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D518H|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D413H|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D381H			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	546					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCGGGGAGTCCTGGCTCTCA	0.667													24	63					0	0	0	0	G	105363339	C	G	105363339	3	3	382	1	0	0	0	0	1	0	0	0	14344	855	30	2	1769	2	SH3PXD2A	10	105363339	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	8614556	105363339	30171408	266	73435											
OBFC1	79991	broad.mit.edu	37	chr10	105658669	105658669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctctagggctgagctgtGaaaaggctggtcataaactt	10	13	11	7	0	2	2	1	2	1	0	3	2	2	2	0	3	2	3	0	3	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105658669G>A	ENST00000224950.3	-	6	714	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	OBFC1_ENST00000369764.1_Missense_Mutation_p.H183Y|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	183					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCTGAGCTGTGAAAAGGCTGG	0.478													35	56					0	0	0	0	A	105658669	G	A	105658669	3	1	382	1	0	0	0	0	1	0	0	0	10878	1290	45	2	579	2	OBFC1	10	105658669	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	295330	105658669	29876078	267	73436											
COL17A1	1308	broad.mit.edu	37	chr10	105821188	105821188	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtggaaacgccagtgttCacagccgcaggactctgggg	9	6	16	10	2	2	0	1	0	1	0	2	3	2	2	2	5	2	2	2	5	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105821188C>G	ENST00000353479.5	-	13	1244	c.954G>C	c.(952-954)gtG>gtC	p.V318V	COL17A1_ENST00000369733.3_Silent_p.V318V|COL17A1_ENST00000393211.3_Silent_p.V318V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	318	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CGCCAGTGTTCACAGCCGCAG	0.577													14	14					0	0	0	0	G	105821188	C	G	105821188	2	3	382	1	0	0	0	0	0	0	0	1	3704	813	29	2		2	COL17A1	10	105821188	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	162519	105821188	29713559	268	73437											
NRAP	4892	broad.mit.edu	37	chr10	115389479	115389479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttcttagcatgcctgatGtttaccatatccatgggcag	8	13	9	11	0	1	1	0	1	1	0	2	1	2	1	4	1	3	3	4	1	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:115389479G>A	ENST00000369358.4	-	19	2176	c.1932C>T	c.(1930-1932)aaC>aaT	p.N644N	NRAP_ENST00000360478.3_Silent_p.N601N|NRAP_ENST00000359988.3_Silent_p.N636N|NRAP_ENST00000369360.3_Silent_p.N609N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	636						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CATGCCTGATGTTTACCATAT	0.443													50	59					0	0	0	0	A	115389479	G	A	115389479	2	1	382	1	0	0	0	0	0	0	0	1	10709	1368	48	4		4	NRAP	10	115389479	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	9568291	115389479	20145268	269	73438											
HSPA12A	259217	broad.mit.edu	37	chr10	118451953	118451953	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcagagttctcgaacTccgaacccgcctggtcactc	9	9	8	15	3	3	2	2	1	1	1	6	4	4	2	3	1	2	1	3	1	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:118451953T>A	ENST00000369209.3	-	6	676	c.572A>T	c.(571-573)gAg>gTg	p.E191V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	191							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTTCTCGAACTCCGAACCCGC	0.567													40	160					0	0	0	0	A	118451953	T	A	118451953	3	1	382	1	0	0	0	0	1	0	0	0	7456	1551	54	5	1483	5	HSPA12A	10	118451953	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	3062474	118451953	17082794	270	73439											
FAM196A	642938	broad.mit.edu	37	chr10	128973751	128973751	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgagcaggccagggcAgtttccgagggcgcctggag	6	5	21	9	2	0	1	0	1	0	0	1	3	1	2	3	6	1	3	3	6	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:128973751A>T	ENST00000522781.1	-	4	1464	c.909T>A	c.(907-909)acT>acA	p.T303T	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.T303T	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	303										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGCCAGGGCAGTTTCCGAGG	0.667													25	46					0	0	0	0	T	128973751	A	T	128973751	2	4	382	1	0	0	0	0	0	0	0	1	5571	175	7	5		5	FAM196A	10	128973751	Silent	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	10521798	128973751	6560996	271	73440											
MUC5B	727897	broad.mit.edu	37	chr11	1253769	1253769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaaccccaagcccttcCactcggtgagaggctgaggc	9	7	10	15	1	2	2	2	2	0	1	4	3	3	2	4	3	2	1	4	3	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:1253769C>T	ENST00000447027.1	+	16	2000	c.1942C>T	c.(1942-1944)Cac>Tac	p.H648Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.H645Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	645					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAAGCCCTTCCACTCGGTGAG	0.682													4	2					0	0	0	0	T	1253769	C	T	1253769	3	4	382	1	0	0	0	0	1	0	0	0	10049	594	21	4	2004	4	MUC5B	11	1253769	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		1253769	133752747	272	73441											
MRPL23	6150	broad.mit.edu	37	chr11	1968600	1968600	+	Frame_Shift_Del	DEL	G	G	-																															gcgcgtggccgccatggcgcGgaatgtggtgtgagtagggg																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:1968600delG	ENST00000381514.3	+	1	30	c.8delG	c.(7-9)cgfs	p.R3fs	MRPL23_ENST00000397294.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397297.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000381519.1_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397298.3_Frame_Shift_Del_p.R3fs			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	3					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCCATGGCGCGGAATGTGGTG	0.766													2	4	---	---	---	---					-	1968600	G	-	1968600	7	5	382	1	0	1	0	1	0	0	0	0	9859	1116	39	0	10	0	MRPL23	11	1968600	Frame_Shift_Del	DEL	G	TCGA-D6-A74Q-01A-11D-A34J-08	714831	1968600	133037916	273	73442											
CHRNA10	57053	broad.mit.edu	37	chr11	3692601	3692601	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggcctcctggccagacCtagggcaaaattaggcccag	10	6	13	12	0	0	2	0	1	0	1	1	2	1	2	5	4	0	1	5	4	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:3692601C>A	ENST00000250699.2	-	0	13					NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)						elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CTGGCCAGACCTAGGGCAAAA	0.617													4	0					0.150653	0.150653	1	0	A	3692601	C	A	3692601	1	1	382	1	0	0	0	0	0	0	0	0	3411	696	24	4		4	CHRNA10	11	3692601	Translation_Start_Site	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1724001	3692601	131313915	274	73443											
OR51D1	390038	broad.mit.edu	37	chr11	4661835	4661835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacccctcattgggctctCggtggtgcataggctgggtg	4	12	15	10	1	2	0	1	0	1	0	3	0	2	0	2	5	2	4	2	5	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:4661835C>T	ENST00000357605.2	+	1	891	c.815C>T	c.(814-816)tCg>tTg	p.S272L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGGGCTCTCGGTGGTGCAT	0.552													38	42					0	0	0	0	T	4661835	C	T	4661835	3	4	382	1	0	0	0	0	1	0	0	0	11164	893	31	1	817	1	OR51D1	11	4661835	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	969234	4661835	130344681	275	73444											
MMP26	56547	broad.mit.edu	37	chr11	5010886	5010886	+	Frame_Shift_Del	DEL	C	C	-																															gatctgattcagggctatttCcatcaatttttcctgaccaa																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5010886delC	ENST00000380390.1	+	3	324	c.108delC	c.(106-108)ttfs	p.F36fs	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Frame_Shift_Del_p.F36fs			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	36					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGGCTATTTCCATCAATTTT	0.468													8	14	---	---	---	---					-	5010886	C	-	5010886	7	5	382	1	0	1	0	1	0	0	0	0	9733	854	30	0	114	0	MMP26	11	5010886	Frame_Shift_Del	DEL	C	TCGA-D6-A74Q-01A-11D-A34J-08	349051	5010886	129995630	276	73445											
OR52J3	119679	broad.mit.edu	37	chr11	5067999	5067999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttctacaacctctgtgcctCgcatgctgggtatcttctgg	5	15	9	12	1	4	0	0	0	4	0	5	0	4	0	2	2	4	3	2	2	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5067999C>G	ENST00000380370.1	+	1	244	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R82C(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTGCCTCGCATGCTGGG	0.498													4	77					0	0	0	0	G	5067999	C	G	5067999	3	3	382	1	0	0	0	0	1	0	0	0	11193	884	31	3	246	3	OR52J3	11	5067999	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	57113	5067999	129938517	277	73446											
OR52E2	119678	broad.mit.edu	37	chr11	5079889	5079889	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	taaaattgcattcagaacctCgtatgtattaggtactcttc	12	15	6	8	1	2	1	1	0	1	1	4	1	2	1	1	1	3	4	1	1	7	8	rs148031312		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5079889C>G	ENST00000321522.2	-	1	968	c.969G>C	c.(967-969)acG>acC	p.T323T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318													21	30					0	0	0	0	G	5079889	C	G	5079889	2	3	382	1	0	0	0	0	0	0	0	1	11186	871	31	3		3	OR52E2	11	5079889	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	11890	5079889	129926627	278	73447											
OR56B4	196335	broad.mit.edu	37	chr11	6129824	6129824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacaccttgcagagaaaaaGattccccttattcctgtgtt	12	12	6	11	0	0	2	0	0	0	2	2	3	2	2	4	0	1	2	4	0	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:6129824G>A	ENST00000316529.3	+	1	911	c.816G>A	c.(814-816)aaG>aaA	p.K272K	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGAAAAAGATTCCCCTTA	0.512													30	53					0	0	0	0	A	6129824	G	A	6129824	2	1	382	1	0	0	0	0	0	0	0	1	11209	933	33	2		2	OR56B4	11	6129824	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1049935	6129824	128876692	279	73448											
DCHS1	8642	broad.mit.edu	37	chr11	6651059	6651059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgtggccgagcgcggcgGggagccgtggtctgaggcca	4	5	20	12	6	1	1	0	1	1	0	1	3	1	2	3	6	3	0	3	6	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:6651059G>C	ENST00000299441.3	-	11	5290	c.4879C>G	c.(4879-4881)Ccg>Gcg	p.P1627A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1627	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGCGGCGGGGAGCCGTGG	0.652													21	28					0	0	0	0	C	6651059	G	C	6651059	3	2	382	1	0	0	0	0	1	0	0	0	4319	1232	43	4	5061	4	DCHS1	11	6651059	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	521235	6651059	128355457	280	73449											
SAAL1	113174	broad.mit.edu	37	chr11	18105280	18105280	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattagaggaagatctacTgtataaacaaatcaagaagc	19	9	7	6	0	3	3	2	0	1	3	3	4	3	4	0	1	3	1	0	1	10	4	rs144009342		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:18105280T>A	ENST00000524803.1	-	10	1092		c.e10-2		SAAL1_ENST00000300013.4_Intron|SAAL1_ENST00000529318.1_Intron			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1						acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GAAGATCTACTGTATAAACAA	0.358													22	32					0	0	0	0	A	18105280	T	A	18105280	5	1	382	1	0	0	0	0	0	0	1	0	13886	1594	55	5	395	5	SAAL1	11	18105280	Splice_Site	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	11454221	18105280	116901236	281	73450											
DCDC1	341019	broad.mit.edu	37	chr11	30926565	30926565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatacccatccccatttttGtatgcaattattttcactgc	9	16	4	12	1	1	0	1	0	0	0	2	1	2	0	3	0	3	2	3	0	4	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:30926565G>A	ENST00000597505.1	-	29	4250	c.4251C>T	c.(4249-4251)taC>taT	p.Y1417Y	DCDC1_ENST00000406071.2_Silent_p.Y152Y|DCDC1_ENST00000339794.5_Silent_p.Y496Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	179					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCCCATTTTTGTATGCAATTA	0.458													78	86					0	0	0	0	A	30926565	G	A	30926565	2	1	382	1	0	0	0	0	0	0	0	1	4316	1392	48	4		4	DCDC1	11	30926565	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	12821285	30926565	104079951	282	73451											
SLC35C1	55343	broad.mit.edu	37	chr11	45827727	45827727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctgtcggtggtcttcatCggcatgatcaccttcaataa	8	12	8	13	2	4	1	3	1	1	0	6	1	4	1	3	3	0	1	3	3	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:45827727C>T	ENST00000314134.3	+	1	1771	c.375C>T	c.(373-375)atC>atT	p.I125I	SLC35C1_ENST00000442528.2_Silent_p.I112I|SLC35C1_ENST00000456334.1_Silent_p.I112I	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	125						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGGTCTTCATCGGCATGATCA	0.632													25	63					0	0	0	0	T	45827727	C	T	45827727	2	4	382	1	0	0	0	0	0	0	0	1	14667	874	31	1		1	SLC35C1	11	45827727	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	14901162	45827727	89178789	283	73452											
DGKZ	8525	broad.mit.edu	37	chr11	46396315	46396315	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccccgcccgcctccaGtgtgatggaatggacttgac	7	8	10	16	2	0	2	0	2	0	0	2	4	2	4	6	2	0	0	6	2	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:46396315G>C	ENST00000454345.1	+	19	2213		c.e19-1		DGKZ_ENST00000528615.1_Splice_Site|DGKZ_ENST00000527911.1_Splice_Site|DGKZ_ENST00000456247.2_Splice_Site|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Splice_Site|DGKZ_ENST00000395574.3_Splice_Site|DGKZ_ENST00000532868.2_Splice_Site|DGKZ_ENST00000343674.6_Splice_Site|DGKZ_ENST00000318201.8_Splice_Site	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCGCCTCCAGTGTGATGGAA	0.652													3	51					0	0	0	0	C	46396315	G	C	46396315	5	2	382	1	0	0	0	0	0	0	1	0	4511	1043	36	4	2605	4	DGKZ	11	46396315	Splice_Site	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	568588	46396315	88610201	284	73453											
OR4A5	81318	broad.mit.edu	37	chr11	51412003	51412003	+	Frame_Shift_Del	DEL	C	C	-																															acctgtcgattcatgatggtCaaatagtgcagtggcttaca																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:51412003delC	ENST00000319760.6	-	1	445	c.393delG	c.(391-393)ttfs	p.L131fs		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TCATGATGGTCAAATAGTGCA	0.463													43	63	---	---	---	---					-	51412003	C	-	51412003	7	5	382	1	0	1	0	1	0	0	0	0	11114	825	29	0	558	0	OR4A5	11	51412003	Frame_Shift_Del	DEL	C	TCGA-D6-A74Q-01A-11D-A34J-08	5015688	51412003	83594513	285	73454											
OR4C15	81309	broad.mit.edu	37	chr11	55322547	55322547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcatggtggtcatcaaCagtgggtttatctgcatcat	8	13	11	9	0	5	0	4	0	1	0	5	0	5	0	1	4	2	2	1	4	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55322547C>G	ENST00000314644.2	+	1	765	c.765C>G	c.(763-765)aaC>aaG	p.N255K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGGTCATCAACAGTGGGTTTA	0.473										HNSCC(20;0.049)			23	41					0	0	0	0	G	55322547	C	G	55322547	3	3	382	1	0	0	0	0	1	0	0	0	11119	477	17	4	767	4	OR4C15	11	55322547	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3910544	55322547	79683969	286	73455											
OR4S2	219431	broad.mit.edu	37	chr11	55418380	55418380	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagaacttgacccattccAtggaaaaaataaacaacgta	19	8	5	9	1	0	2	0	1	0	1	1	3	1	3	2	1	3	1	2	1	9	5	rs150128867		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55418380A>T	ENST00000312422.2	+	1	1	c.0_splice	c.e1-1	p.M1_splice		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GACCCATTCCATGGAAAAAAT	0.328													33	83					0	0	0	0	T	55418380	A	T	55418380	5	4	382	1	0	0	0	0	0	0	1	0	11154	231	8	5	3	5	OR4S2	11	55418380	Splice_Site	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	95833	55418380	79588136	287	73456											
OR5D13	390142	broad.mit.edu	37	chr11	55541394	55541394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatagtgtgctccctgataCtcacatattttcttcttgac	8	16	7	10	0	3	2	1	2	2	0	4	3	4	3	1	1	2	1	1	1	3	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55541394C>T	ENST00000361760.1	+	1	481	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCCCTGATACTCACATATTT	0.413													72	139					0	0	0	0	T	55541394	C	T	55541394	3	4	382	1	0	0	0	0	1	0	0	0	11225	565	20	4	483	4	OR5D13	11	55541394	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	123014	55541394	79465122	288	73457											
OR4D6	219983	broad.mit.edu	37	chr11	59224883	59224883	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtggtggcttcttgggtGagtggtggtttgcattcaat	4	17	16	4	0	2	1	1	1	1	0	2	1	2	1	0	6	1	3	0	6	1	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:59224883G>C	ENST00000300127.2	+	1	473	c.450G>C	c.(448-450)gtG>gtC	p.V150V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTTCTTGGGTGAGTGGTGGTT	0.517													56	122					0	0	0	0	C	59224883	G	C	59224883	2	2	382	1	0	0	0	0	0	0	0	1	11129	1277	45	2		2	OR4D6	11	59224883	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3683489	59224883	75781633	289	73458											
OR4D9	390199	broad.mit.edu	37	chr11	59282974	59282974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaccttcactctggagCtcctgatgatttcaaataat	11	13	6	11	0	3	3	2	3	1	0	4	4	4	4	2	1	1	1	2	1	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:59282974C>A	ENST00000329328.3	+	1	589	c.589C>A	c.(589-591)Ctc>Atc	p.L197I		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CACTCTGGAGCTCCTGATGAT	0.473													54	112					2.74695e-27	3.6794e-27	1	0	A	59282974	C	A	59282974	3	1	382	1	0	0	0	0	1	0	0	0	11130	797	28	4	591	4	OR4D9	11	59282974	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	58091	59282974	75723542	290	73459											
SLC15A3	51296	broad.mit.edu	37	chr11	60714105	60714105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcttggtgatgaagacGggggtggcaaagaggaagat	11	6	21	3	1	0	5	0	2	0	3	0	6	0	6	0	7	0	2	0	7	3	1	rs144860400		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:60714105G>A	ENST00000227880.3	-	2	980	c.747C>T	c.(745-747)ccC>ccT	p.P249P		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	249					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TGATGAAGACGGGGGTGGCAA	0.572													28	56					0	0	0	0	A	60714105	G	A	60714105	2	1	382	1	0	0	0	0	0	0	0	1	14488	1103	39	1		1	SLC15A3	11	60714105	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1431131	60714105	74292411	291	73460											
DDB1	1642	broad.mit.edu	37	chr11	61081939	61081939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttcttgagagaccaacCtcaccgatgctgaagtgatc	10	10	11	10	1	2	4	1	3	1	1	3	6	2	4	3	1	2	2	3	1	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:61081939C>T	ENST00000301764.7	-	13	1827	c.1430G>A	c.(1429-1431)aGg>aAg	p.R477K	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	477	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGAGACCAACCTCACCGATGC	0.522								Nucleotide excision repair (NER)					50	120					0	0	0	0	T	61081939	C	T	61081939	3	4	382	1	0	0	0	0	1	0	0	0	4355	681	24	4	2052	4	DDB1	11	61081939	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	367834	61081939	73924577	292	73461											
AHNAK	79026	broad.mit.edu	37	chr11	62284988	62284988	+	Missense_Mutation	SNP	C	C	A																															tcagcccaggagcctggagtCcaatctgacctcctttcaca																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:62284988C>A	ENST00000378024.4	-	5	17175	c.16901G>T	c.(16900-16902)gGa>gTa	p.G5634V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5634	Gly-rich.				nervous system development	nucleus	protein binding			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)				AGCCTGGAGTCCAATCTGACC	0.493													53	86					2.48909e-17	3.08626e-17	1	0	A	62284988	C	A	62284988	3	1	382	1	0	0	0	0	1	0	0	0	414	855	30	2	891	2	AHNAK	11	62284988	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1203049	62284988	72721528	293	73462	995	2									
AHNAK	79026	broad.mit.edu	37	chr11	62284989	62284989	+	Nonsense_Mutation	SNP	C	C	A																															cagcccaggagcctggagtcCaatctgacctcctttcacac																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:62284989C>A	ENST00000378024.4	-	5	17174	c.16900G>T	c.(16900-16902)Gga>Tga	p.G5634*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5634	Gly-rich.				nervous system development	nucleus	protein binding			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)				GCCTGGAGTCCAATCTGACCT	0.493													52	88					1.57914e-17	1.96635e-17	1	0	A	62284989	C	A	62284989	4	1	382	1	0	0	0	0	0	1	0	0	414	603	21	4	892	4	AHNAK	11	62284989	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1	62284989	72721527	294	73463	995	2									
PCNXL3	399909	broad.mit.edu	37	chr11	65390996	65390996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagaacatcttcggcgtgGgcctgagcagccttgtggcc	6	9	15	11	2	1	2	0	1	1	1	2	3	1	2	3	4	3	1	3	4	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:65390996G>T	ENST00000355703.3	+	12	2931	c.2392G>T	c.(2392-2394)Ggc>Tgc	p.G798C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	798						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTTCGGCGTGGGCCTGAGCAG	0.627													10	24					1.76689e-08	1.95429e-08	1	0	T	65390996	G	T	65390996	3	4	382	1	0	0	0	0	1	0	0	0	11664	1232	43	4	2438	4	PCNXL3	11	65390996	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3106007	65390996	69615520	295	73464											
LRFN4	78999	broad.mit.edu	37	chr11	66626550	66626550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaacagcagcgaagatgaGaccctcatctaccggtgagg	13	6	11	11	2	2	3	1	2	1	2	2	5	2	3	2	2	5	1	2	2	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:66626550G>C	ENST00000309602.4	+	1	1578	c.1335G>C	c.(1333-1335)gaG>gaC	p.E445D	PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	445	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCGAAGATGAGACCCTCATCT	0.662													14	56					0	0	0	0	C	66626550	G	C	66626550	3	2	382	1	0	0	0	0	1	0	0	0	9004	933	33	2	1337	2	LRFN4	11	66626550	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1235554	66626550	68379966	296	73465											
PGM2L1	283209	broad.mit.edu	37	chr11	74056633	74056633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatttttcttccagcaatCaaacatccaccatccaaaca	14	13	1	13	0	2	0	1	0	1	0	5	0	5	0	4	0	3	1	4	0	4	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:74056633C>G	ENST00000298198.4	-	9	1410	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	367					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCCAGCAATCAAACATCCAC	0.373													5	64					0	0	0	0	G	74056633	C	G	74056633	3	3	382	1	0	0	0	0	1	0	0	0	11871	826	29	2	793	2	PGM2L1	11	74056633	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7430083	74056633	60949883	297	73466											
DLG2	1740	broad.mit.edu	37	chr11	83770503	83770503	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacacatcaacctcattCacccgcaagatacaatcatt	14	10	3	14	1	5	2	4	1	1	1	5	2	5	2	2	0	2	1	2	0	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:83770503C>A	ENST00000398309.2	-	6	929	c.459G>T	c.(457-459)gtG>gtT	p.V153V	DLG2_ENST00000280241.8_Silent_p.V192V|DLG2_ENST00000398301.2_Silent_p.V192V|DLG2_ENST00000543673.1_Silent_p.V258V|DLG2_ENST00000376104.2_Silent_p.V258V|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Silent_p.V92V|DLG2_ENST00000532653.1_Silent_p.V153V|DLG2_ENST00000524982.1_Silent_p.V153V|DLG2_ENST00000418306.2_Silent_p.V102V|DLG2_ENST00000531015.1_Silent_p.V120V	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	153	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAACCTCATTCACCCGCAAGA	0.443													13	26					5.50884e-06	5.84938e-06	1	0	A	83770503	C	A	83770503	2	1	382	1	0	0	0	0	0	0	0	1	4592	813	29	2		2	DLG2	11	83770503	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	9713870	83770503	51236013	298	73467											
GPR83	10888	broad.mit.edu	37	chr11	94134087	94134087	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaactgccaggttgacgatGaagaggctggtggccgagtg	9	7	17	8	2	0	3	0	2	0	1	0	5	0	3	2	4	2	3	2	4	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:94134087G>A	ENST00000243673.2	-	1	498	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GPR83_ENST00000539203.2_Silent_p.F109F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	109						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTTGACGATGAAGAGGCTGG	0.547													6	20					0	0	0	0	A	94134087	G	A	94134087	2	1	382	1	0	0	0	0	0	0	0	1	6762	1281	45	2		2	GPR83	11	94134087	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	10363584	94134087	40872429	299	73468											
BCO2	83875	broad.mit.edu	37	chr11	112087006	112087006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagcaccaggaaccaatGaagaagatggtggggttatt	13	9	12	7	0	0	3	0	1	0	2	1	4	1	4	3	4	2	2	3	4	5	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:112087006G>C	ENST00000357685.5	+	11	1714	c.1579G>C	c.(1579-1581)Gaa>Caa	p.E527Q	BCO2_ENST00000532593.1_Missense_Mutation_p.E422Q|BCO2_ENST00000438022.1_Missense_Mutation_p.E493Q|BCO2_ENST00000531169.1_Missense_Mutation_p.E493Q|BCO2_ENST00000393032.2_Missense_Mutation_p.E493Q|BCO2_ENST00000361053.4_Missense_Mutation_p.E454Q|BCO2_ENST00000526088.1_Missense_Mutation_p.E487Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	527					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AGGAACCAATGAAGAAGATGG	0.418													4	93					0	0	0	0	C	112087006	G	C	112087006	3	2	382	1	0	0	0	0	1	0	0	0	1389	1291	45	2	1621	2	BCO2	11	112087006	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	17952919	112087006	22919510	300	73469											
OR6X1	390260	broad.mit.edu	37	chr11	123624753	123624753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaactggatgagcagcatCgtctgacaaaagacaatggt	14	7	12	8	1	1	3	0	2	1	1	2	4	1	4	0	3	3	3	0	3	4	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123624753C>T	ENST00000327930.2	-	1	500	c.474G>A	c.(472-474)acG>acA	p.T158T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGCAGCATCGTCTGACAAA	0.527													21	52					0	0	0	0	T	123624753	C	T	123624753	2	4	382	1	0	0	0	0	0	0	0	1	11283	871	31	1		1	OR6X1	11	123624753	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	11537747	123624753	11381763	301	73470											
OR8D4	338662	broad.mit.edu	37	chr11	123777945	123777945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttctagcagttcactcacCcaggagaaagtatcctcagt	11	10	8	12	0	4	1	3	0	1	1	5	2	5	1	2	1	1	4	2	1	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123777945C>T	ENST00000321355.2	+	1	837	c.807C>T	c.(805-807)acC>acT	p.T269T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GTTCACTCACCCAGGAGAAAG	0.413													24	83					0	0	0	0	T	123777945	C	T	123777945	2	4	382	1	0	0	0	0	0	0	0	1	11304	610	22	4		4	OR8D4	11	123777945	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	153192	123777945	11228571	302	73471											
OR6T1	219874	broad.mit.edu	37	chr11	123814526	123814526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaagcttgttacctgaGtccagttttcagggttcatc	9	13	10	9	0	2	1	2	1	0	0	4	2	3	2	2	2	2	4	2	2	2	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123814526G>T	ENST00000321252.2	-	1	54	c.20C>A	c.(19-21)aCt>aAt	p.T7N		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTTACCTGAGTCCAGTTTTC	0.453													33	64					6.00712e-18	7.52824e-18	1	0	T	123814526	G	T	123814526	3	4	382	1	0	0	0	0	1	0	0	0	11281	1029	36	4	954	4	OR6T1	11	123814526	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	36581	123814526	11191990	303	73472											
OR10G4	390264	broad.mit.edu	37	chr11	123887132	123887132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacgccccttctcaaccCtgttgtgtacaccctgagaa	8	10	8	15	1	1	2	1	2	1	1	2	3	1	2	4	0	2	3	4	0	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123887132C>T	ENST00000320891.4	+	1	851	c.851C>T	c.(850-852)cCt>cTt	p.P284L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTTCTCAACCCTGTTGTGTAC	0.453													18	64					0	0	0	0	T	123887132	C	T	123887132	3	4	382	1	0	0	0	0	1	0	0	0	10972	681	24	4	853	4	OR10G4	11	123887132	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	72606	123887132	11119384	304	73473											
OR10G8	219869	broad.mit.edu	37	chr11	123901010	123901010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctgttccatcctgcggatCcgcacctcagaggggaagca	8	8	12	13	2	2	1	1	0	1	1	5	3	5	3	4	3	2	3	4	3	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123901010C>G	ENST00000431524.1	+	1	714	c.681C>G	c.(679-681)atC>atG	p.I227M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCTGCGGATCCGCACCTCAG	0.522													42	74					0	0	0	0	G	123901010	C	G	123901010	3	3	382	1	0	0	0	0	1	0	0	0	10974	845	30	2	683	2	OR10G8	11	123901010	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	13878	123901010	11105506	305	73474											
OR8D1	283159	broad.mit.edu	37	chr11	124179974	124179974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttggaccggccctctgagGagcggatgtgaaggatgctg	7	9	16	9	2	1	2	0	2	1	0	1	6	1	6	2	5	2	1	2	5	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:124179974G>T	ENST00000357821.2	-	1	759	c.689C>A	c.(688-690)tCc>tAc	p.S230Y		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		GCCCTCTGAGGAGCGGATGTG	0.498													17	25					1.5739e-10	1.79874e-10	1	0	T	124179974	G	T	124179974	3	4	382	1	0	0	0	0	1	0	0	0	11302	1174	41	2	240	2	OR8D1	11	124179974	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	278964	124179974	10826542	306	73475											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840371	128840371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggggtaacaggtattcctGacagaggagctcaaagaaga	14	7	13	7	1	1	4	1	1	0	3	3	5	2	5	1	4	2	3	1	4	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:128840371G>A	ENST00000310343.9	-	22	4694	c.4695C>T	c.(4693-4695)gtC>gtT	p.V1565V	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.V1216V|ARHGAP32_ENST00000392657.3_Silent_p.V1216V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1565	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGTATTCCTGACAGAGGAGC	0.532													17	44					0	0	0	0	A	128840371	G	A	128840371	2	1	382	1	0	0	0	0	0	0	0	1	883	1277	45	2		2	ARHGAP32	11	128840371	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4660397	128840371	6166145	307	73476											
CD163	9332	broad.mit.edu	37	chr12	7653818	7653818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgcaatcccaaagagctGactcattcccacgacaagaa	14	8	7	12	1	1	3	1	1	0	2	3	4	3	3	2	0	2	3	2	0	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:7653818G>A	ENST00000359156.4	-	3	576	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CD163_ENST00000396620.3_Missense_Mutation_p.S125L|CD163_ENST00000541972.1_Missense_Mutation_p.S113L|CD163_ENST00000432237.2_Missense_Mutation_p.S125L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	125	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAAAGAGCTGACTCATTCCC	0.478													96	128					0	0	0	0	A	7653818	G	A	7653818	3	1	382	1	0	0	0	0	1	0	0	0	2996	1294	45	2	3152	2	CD163	12	7653818	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		7653818	126198077	308	73477											
SLC2A14	144195	broad.mit.edu	37	chr12	7973852	7973852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtattaaccacacccgCgctgatggtggcatagatgg	11	9	12	9	2	0	2	0	1	0	1	0	3	0	2	2	3	1	3	2	3	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:7973852C>T	ENST00000543909.1	-	13	1762	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312T|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312T|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350T|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226T|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226T|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335T			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ACCACACCCGCGCTGATGGTG	0.408													7	137					0	0	0	0	T	7973852	C	T	7973852	3	4	382	1	0	0	0	0	1	0	0	0	14631	768	27	1	575	1	SLC2A14	12	7973852	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	320034	7973852	125878043	309	73478											
CLEC1B	51266	broad.mit.edu	37	chr12	10145826	10145826	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacagaaggtagggtgcatTttcccattatgaaaataagc	14	11	9	7	0	1	2	1	1	0	1	2	2	2	2	1	2	2	2	1	2	6	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:10145826T>A	ENST00000428126.2	-	7	776	c.507A>T	c.(505-507)aaA>aaT	p.K169N	CLEC1B_ENST00000298527.6_Missense_Mutation_p.K202N|CLEC1B_ENST00000348658.4_Missense_Mutation_p.K169N			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	202	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TAGGGTGCATTTTCCCATTAT	0.378													87	107					0	0	0	0	A	10145826	T	A	10145826	3	1	382	1	0	0	0	0	1	0	0	0	3536	1838	64	5	87	5	CLEC1B	12	10145826	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	2171974	10145826	123706069	310	73479											
KLRC2	3822	broad.mit.edu	37	chr12	10587972	10587972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaatgcaaatgattcctagGacctcggcagtgagcttctc	11	10	9	11	1	1	2	0	2	1	0	4	3	2	3	2	2	2	3	2	2	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:10587972G>T	ENST00000381902.2	-	2	231	c.225C>A	c.(223-225)gtC>gtA	p.V75V	KLRC2_ENST00000381901.1_Silent_p.V75V|NKG2-E_ENST00000539033.1_Silent_p.V75V|KLRC2_ENST00000536833.2_Silent_p.V16V	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	75					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TGATTCCTAGGACCTCGGCAG	0.428													24	212					2.47511e-08	2.73244e-08	1	0	T	10587972	G	T	10587972	2	4	382	1	0	0	0	0	0	0	0	1	8468	1161	41	2		2	KLRC2	12	10587972	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	442146	10587972	123263923	311	73480											
APOLD1	81575	broad.mit.edu	37	chr12	12940571	12940571	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgctgaccagcgtgcAgggctgtttttctgagaaca	8	12	11	10	1	2	2	0	2	2	1	3	3	2	2	1	1	4	4	1	1	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:12940571A>T	ENST00000356591.4	+	2	817	c.732A>T	c.(730-732)gcA>gcT	p.A244A	RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Silent_p.A275A	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	275					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		ACCAGCGTGCAGGGCTGTTTT	0.552													39	43					0	0	0	0	T	12940571	A	T	12940571	2	4	382	1	0	0	0	0	0	0	0	1	813	175	7	5		5	APOLD1	12	12940571	Silent	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	2352599	12940571	120911324	312	73481											
PLBD1	79887	broad.mit.edu	37	chr12	14664248	14664248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacatatgtaggaatttgctCcacaatgtacagagtgcctt	12	13	8	8	0	0	1	0	0	0	1	1	2	1	2	2	1	4	3	2	1	6	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:14664248C>T	ENST00000240617.5	-	8	1784	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	378					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAATTTGCTCCACAATGTAC	0.383													41	81					0	0	0	0	T	14664248	C	T	14664248	3	4	382	1	0	0	0	0	1	0	0	0	12097	864	30	2	545	2	PLBD1	12	14664248	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1723677	14664248	119187647	313	73482											
PTPRO	5800	broad.mit.edu	37	chr12	15739956	15739956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgacagcaagctaccaaGagcaaaggtcccatgatcat	14	6	9	12	1	1	2	1	1	0	1	3	3	3	2	3	1	4	3	3	1	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:15739956G>T	ENST00000281171.4	+	24	3711	c.3381G>T	c.(3379-3381)aaG>aaT	p.K1127N	PTPRO_ENST00000542557.1_Missense_Mutation_p.K288N|PTPRO_ENST00000442921.2_Missense_Mutation_p.K316N|PTPRO_ENST00000544244.1_Missense_Mutation_p.K288N|PTPRO_ENST00000445537.2_Missense_Mutation_p.K316N|PTPRO_ENST00000348962.2_Missense_Mutation_p.K1099N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1127	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)				AAGCTACCAAGAGCAAAGGTC	0.443													41	55					3.54561e-26	4.70599e-26	1	0	T	15739956	G	T	15739956	3	4	382	1	0	0	0	0	1	0	0	0	12891	933	33	2	3475	2	PTPRO	12	15739956	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1075708	15739956	118111939	314	73483											
PIK3C2G	5288	broad.mit.edu	37	chr12	18715688	18715688	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttaaattgaataacttgatCcacacacttgcacaaatgtc	15	12	5	9	0	0	2	0	2	0	0	2	2	1	2	1	0	2	2	1	0	5	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18715688C>T	ENST00000433979.1	+	26	3635	c.3519C>T	c.(3517-3519)atC>atT	p.I1173I	PIK3C2G_ENST00000266497.5_Silent_p.I1173I|PIK3C2G_ENST00000538779.1_Silent_p.I1214I	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1173	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATAACTTGATCCACACACTTG	0.393													9	10					0	0	0	0	T	18715688	C	T	18715688	2	4	382	1	0	0	0	0	0	0	0	1	11983	845	30	2		2	PIK3C2G	12	18715688	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2975732	18715688	115136207	315	73484											
PLCZ1	89869	broad.mit.edu	37	chr12	18847913	18847913	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtatgatttactctctctTaagaaatgtggtttcaaaat	14	16	6	5	0	3	2	1	1	2	1	4	2	3	2	0	1	1	2	0	1	7	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18847913T>A	ENST00000447925.2	-	12	1655	c.1386A>T	c.(1384-1386)ttA>ttT	p.L462F	PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L327F|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L269F|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L464F|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L246F|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L271F	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	464	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TACTCTCTCTTAAGAAATGTG	0.328													19	68					0	0	0	0	A	18847913	T	A	18847913	3	1	382	1	0	0	0	0	1	0	0	0	12116	1751	61	5	450	5	PLCZ1	12	18847913	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	132225	18847913	115003982	316	73485											
PLCZ1	89869	broad.mit.edu	37	chr12	18865916	18865916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacggcatcctttcacaaGggcactagcaaaatttcagc	14	8	7	12	1	2	0	2	0	0	0	3	0	3	0	1	2	3	3	1	2	5	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18865916G>T	ENST00000447925.2	-	6	837	c.568C>A	c.(568-570)Ctt>Att	p.L190I	PLCZ1_ENST00000541695.1_Missense_Mutation_p.L55I|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L192I|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000539875.1_Intron	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	192	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTTTCACAAGGGCACTAGCA	0.348													30	53					3.73148e-12	4.34967e-12	1	0	T	18865916	G	T	18865916	3	4	382	1	0	0	0	0	1	0	0	0	12116	1000	35	4	1292	4	PLCZ1	12	18865916	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	18003	18865916	114985979	317	73486											
PDE3A	5139	broad.mit.edu	37	chr12	20806919	20806919	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggattacccataagcccCttcatggatcgttctgctcc	7	13	7	14	1	2	0	1	0	1	0	4	2	3	2	4	2	3	2	4	2	2	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:20806919C>A	ENST00000359062.3	+	15	3004	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	988	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCATAAGCCCCTTCATGGATC	0.448													25	62					2.27525e-19	2.87608e-19	1	0	A	20806919	C	A	20806919	2	1	382	1	0	0	0	0	0	0	0	1	11708	668	24	4		4	PDE3A	12	20806919	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1941003	20806919	113044976	318	73487											
ITPR2	3709	broad.mit.edu	37	chr12	26985673	26985673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctccgcgtacagggacacGatgtcccctatgtagaggaa	10	7	11	13	3	0	1	0	0	0	1	2	4	2	3	4	2	1	2	4	2	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:26985673G>A	ENST00000381340.3	-	1	458	c.42C>T	c.(40-42)atC>atT	p.I14I	ITPR2_ENST00000242737.5_Silent_p.I14I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	14					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.I14M(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACAGGGACACGATGTCCCCTA	0.622													11	78					0	0	0	0	A	26985673	G	A	26985673	2	1	382	1	0	0	0	0	0	0	0	1	7974	1048	37	1		1	ITPR2	12	26985673	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6178754	26985673	106866222	319	73488											
CAPRIN2	65981	broad.mit.edu	37	chr12	30873754	30873754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcttttacctcaggagtCtctgaggtcataaactctgt	8	15	9	9	0	5	1	2	1	3	0	6	2	5	2	1	3	2	0	1	3	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:30873754C>G	ENST00000251071.5	-	12	2889	c.2139G>C	c.(2137-2139)gaG>gaC	p.E713D	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E713D|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E713D|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E380D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	713					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTCAGGAGTCTCTGAGGTCA	0.373													49	63					0	0	0	0	G	30873754	C	G	30873754	3	3	382	1	0	0	0	0	1	0	0	0	2661	912	32	2	1272	2	CAPRIN2	12	30873754	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3888081	30873754	102978141	320	73489											
SLC2A13	114134	broad.mit.edu	37	chr12	40422130	40422130	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctttttcctcctcttCaatgttgtttttgatgctat	6	21	4	10	0	3	1	1	1	2	0	5	1	5	1	3	0	2	3	3	0	3	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:40422130C>A	ENST00000280871.4	-	3	948	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.E300*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	300						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCCTCCTCTTCAATGTTGTTT	0.358										HNSCC(50;0.14)			34	125					6.05902e-23	7.91603e-23	1	0	A	40422130	C	A	40422130	4	1	382	1	0	0	0	0	0	1	0	0	14630	835	29	2	1080	2	SLC2A13	12	40422130	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	9548376	40422130	93429765	321	73490											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777746	43777746	+	Missense_Mutation	SNP	C	C	A																															tcagtctgcagtatacatccCtctgctgaactccagagcca																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:43777746C>A	ENST00000389420.3	-	30	4486	c.4487G>T	c.(4486-4488)aGg>aTg	p.R1496M		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1496	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTATACATCCCTCTGCTGAAC	0.443													30	26					1.22384e-17	1.52718e-17	1	0	A	43777746	C	A	43777746	3	1	382	1	0	0	0	0	1	0	0	0	266	681	24	4	1284	4	ADAMTS20	12	43777746	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3355616	43777746	90074149	322	73491	996	2									
ADAMTS20	80070	broad.mit.edu	37	chr12	43777747	43777747	+	Silent	SNP	T	T	G																															cagtctgcagtatacatcccTctgctgaactccagagccac																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:43777747T>G	ENST00000389420.3	-	30	4485	c.4486A>C	c.(4486-4488)Agg>Cgg	p.R1496R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1496	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATACATCCCTCTGCTGAACT	0.438													30	26					0	0	0	0	G	43777747	T	G	43777747	2	3	382	1	0	0	0	0	0	0	0	1	266	1550	54	5		5	ADAMTS20	12	43777747	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	1	43777747	90074148	323	73492	996	2									
PUS7L	83448	broad.mit.edu	37	chr12	44148735	44148735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatagtatcttccttttctGaaccagactgatgattttgg	9	16	8	8	1	2	4	0	3	2	1	3	5	3	4	2	1	1	1	2	1	3	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:44148735G>A	ENST00000416848.2	-	2	802	c.314C>T	c.(313-315)tCa>tTa	p.S105L	PUS7L_ENST00000551923.1_Missense_Mutation_p.S105L|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.S105L|PUS7L_ENST00000344862.5_Missense_Mutation_p.S105L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	105					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCCTTTTCTGAACCAGACTG	0.343													4	118					0	0	0	0	A	44148735	G	A	44148735	3	1	382	1	0	0	0	0	1	0	0	0	12916	1294	45	2	1823	2	PUS7L	12	44148735	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	370988	44148735	89703160	324	73493											
TUBA1B	10376	broad.mit.edu	37	chr12	49521986	49521986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgcacacagctctctgtaCcttggccaggtctccaccag	8	9	8	16	0	2	0	0	0	2	0	4	0	2	0	4	2	3	3	4	2	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:49521986C>A	ENST00000336023.5	-	4	1205	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	371					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GCTCTCTGTACCTTGGCCAGG	0.577													22	18					3.11337e-16	3.82781e-16	1	0	A	49521986	C	A	49521986	3	1	382	1	0	0	0	0	1	0	0	0	16840	507	18	4	248	4	TUBA1B	12	49521986	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5373251	49521986	84329909	325	73494											
RARG	5916	broad.mit.edu	37	chr12	53607384	53607384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacaaggtctgtgaggggcCcgaagccggcattgtgcatc	9	7	15	10	2	1	2	0	1	1	1	2	3	1	2	2	4	2	2	2	4	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:53607384C>A	ENST00000425354.2	-	8	1401	c.914G>T	c.(913-915)gGg>gTg	p.G305V	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.G283V|RARG_ENST00000394426.1_Missense_Mutation_p.G305V|RARG_ENST00000338561.5_Missense_Mutation_p.G294V|RARG_ENST00000327550.3_Missense_Mutation_p.G233V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	305	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTGAGGGGCCCGAAGCCGGC	0.612											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	43					3.09479e-21	3.98975e-21	1	0	A	53607384	C	A	53607384	3	1	382	1	0	0	0	0	1	0	0	0	13136	623	22	4	462	4	RARG	12	53607384	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4085398	53607384	80244511	326	73495											
SP7	121340	broad.mit.edu	37	chr12	53722592	53722592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttgcaagaggtggggagCtgggtagggggctggattaa	8	9	21	3	0	0	1	0	0	0	1	0	3	0	3	0	8	2	5	0	8	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:53722592C>A	ENST00000536324.2	-	3	917	c.634G>T	c.(634-636)Gct>Tct	p.A212S	SP7_ENST00000537210.2_Missense_Mutation_p.A194S|SP7_ENST00000303846.3_Missense_Mutation_p.A212S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGGTGGGGAGCTGGGTAGGGG	0.597													22	58					5.35356e-11	6.14239e-11	1	0	A	53722592	C	A	53722592	3	1	382	1	0	0	0	0	1	0	0	0	15057	797	28	4	665	4	SP7	12	53722592	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	115208	53722592	80129303	327	73496											
PDE1B	5153	broad.mit.edu	37	chr12	54966391	54966391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaactccccgcagattcccActgtgtttttgatgagtttc	7	15	7	12	1	0	3	0	2	0	1	3	3	2	3	3	0	1	3	3	0	1	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:54966391A>G	ENST00000243052.3	+	7	1037	c.601A>G	c.(601-603)Act>Gct	p.T201A	PDE1B_ENST00000538346.1_Missense_Mutation_p.T160A|PDE1B_ENST00000550620.1_Missense_Mutation_p.T181A|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	201	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GCAGATTCCCACTGTGTTTTT	0.478													357	536					0	0	0	0	G	54966391	A	G	54966391	3	3	382	1	0	0	0	0	1	0	0	0	11705	159	6	5	680	5	PDE1B	12	54966391	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	1243799	54966391	78885504	328	73497											
OR6C70	390327	broad.mit.edu	37	chr12	55863538	55863538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcatgatggacatataacGcaaaggtttgcagatggcaa	15	9	10	7	1	1	2	1	1	0	1	1	3	1	3	0	3	2	4	0	3	4	3	rs141132100		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:55863538G>A	ENST00000327335.4	-	1	384	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R129S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GACATATAACGCAAAGGTTTG	0.388													17	74					0	0	0	0	A	55863538	G	A	55863538	3	1	382	1	0	0	0	0	1	0	0	0	11268	1087	38	1	555	1	OR6C70	12	55863538	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	897147	55863538	77988357	329	73498											
ERBB3	2065	broad.mit.edu	37	chr12	56477587	56477587	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accggcgatgctgagaaccaAtaccagacactgtacaagct	14	6	9	12	2	0	2	0	1	0	2	0	4	0	2	3	1	5	3	3	1	5	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:56477587A>G	ENST00000267101.3	+	2	575	c.135A>G	c.(133-135)caA>caG	p.Q45Q	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_5'UTR|ERBB3_ENST00000411731.2_Silent_p.Q45Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	45					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGAGAACCAATACCAGACAC	0.547													73	90					0	0	0	0	G	56477587	A	G	56477587	2	3	382	1	0	0	0	0	0	0	0	1	5246	98	4	5		5	ERBB3	12	56477587	Silent	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	614049	56477587	77374308	330	73499											
ARHGAP9	64333	broad.mit.edu	37	chr12	57868441	57868441	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcgaagcttctggaccActgccaagttcccgctcacc	10	7	9	15	2	2	0	1	0	1	0	3	3	3	1	4	1	3	3	4	1	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:57868441A>T	ENST00000393797.2	-	17	2159	c.1967T>A	c.(1966-1968)gTg>gAg	p.V656E	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.V585E|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.V566E|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.V645E|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.V566E|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.V382E			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	585	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTTCTGGACCACTGCCAAGTT	0.522													49	68					0	0	0	0	T	57868441	A	T	57868441	3	4	382	1	0	0	0	0	1	0	0	0	891	159	6	5	518	5	ARHGAP9	12	57868441	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	1390854	57868441	75983454	331	73500											
MBD6	114785	broad.mit.edu	37	chr12	57920648	57920648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaggacaacctccccctGagcccctgctacccccacca	9	4	8	20	0	0	1	0	1	0	0	1	4	1	3	8	2	4	1	8	2	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:57920648G>A	ENST00000355673.3	+	7	2076	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	MBD6_ENST00000431731.2_Missense_Mutation_p.E574K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	574	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACCTCCCCCTGAGCCCCTGCT	0.617													11	52					0	0	0	0	A	57920648	G	A	57920648	3	1	382	1	0	0	0	0	1	0	0	0	9417	1291	45	2	1738	2	MBD6	12	57920648	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	52207	57920648	75931247	332	73501											
DPY19L2	283417	broad.mit.edu	37	chr12	63963106	63963106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagattttcgactatatgtaGaataaactatttttgtccga	13	16	6	6	2	0	2	0	0	0	2	2	4	1	2	1	0	1	1	1	0	7	9			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:63963106G>C	ENST00000324472.4	-	21	2207	c.2024C>G	c.(2023-2025)tCt>tGt	p.S675C	DPY19L2_ENST00000413230.2_Missense_Mutation_p.S122C	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	675					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ACTATATGTAGAATAAACTAT	0.264													92	125					0	0	0	0	C	63963106	G	C	63963106	3	2	382	1	0	0	0	0	1	0	0	0	4777	942	33	2	260	2	DPY19L2	12	63963106	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6042458	63963106	69888789	333	73502											
RAB3IP	117177	broad.mit.edu	37	chr12	70149380	70149380	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagatgtttctgaacttccTacacaacccgtgtattcatc	10	15	5	11	1	2	2	1	1	1	1	4	2	3	2	2	0	3	2	2	0	5	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:70149380T>A	ENST00000550536.1	+	2	697	c.240T>A	c.(238-240)ccT>ccA	p.P80P	RAB3IP_ENST00000378815.6_Silent_p.P64P|RAB3IP_ENST00000247833.7_Silent_p.P64P|RAB3IP_ENST00000483530.2_Silent_p.P64P|RAB3IP_ENST00000362025.5_Silent_p.P80P|RAB3IP_ENST00000325555.9_5'UTR	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	80					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGAACTTCCTACACAACCCG	0.393													51	63					0	0	0	0	A	70149380	T	A	70149380	2	1	382	1	0	0	0	0	0	0	0	1	13020	1509	53	5		5	RAB3IP	12	70149380	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	6186274	70149380	63702515	334	73503											
PTPRB	5787	broad.mit.edu	37	chr12	71016365	71016365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactgcattaaaggtagtGagaatctggggtggagccgt	11	9	16	5	1	1	1	0	1	1	1	1	4	1	3	1	5	3	2	1	5	5	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:71016365G>T	ENST00000334414.6	-	3	557	c.513C>A	c.(511-513)ctC>ctA	p.L171L	PTPRB_ENST00000551525.1_Silent_p.L170L|PTPRB_ENST00000550358.1_Silent_p.L171L|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAAGGTAGTGAGAATCTGGG	0.453													8	10					5.4927e-09	6.15689e-09	1	0	T	71016365	G	T	71016365	2	4	382	1	0	0	0	0	0	0	0	1	12878	1277	45	2		2	PTPRB	12	71016365	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	866985	71016365	62835530	335	73504											
CUX2	23316	broad.mit.edu	37	chr12	111744770	111744770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccctcggctggaggccGcgctggcctccaaggacagg	5	4	17	15	4	0	0	0	0	0	0	2	2	1	2	4	7	0	2	4	7	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:111744770G>C	ENST00000261726.6	+	11	1058	c.904G>C	c.(904-906)Gcg>Ccg	p.A302P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A302S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGGAGGCCGCGCTGGCCTC	0.637													47	59					0	0	0	0	C	111744770	G	C	111744770	3	2	382	1	0	0	0	0	1	0	0	0	4097	1087	38	3	946	3	CUX2	12	111744770	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	40728405	111744770	22107125	336	73505											
DTX1	1840	broad.mit.edu	37	chr12	113534540	113534540	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcggctgctcatcacGgcctgggagagaagactcat	8	8	14	11	2	3	2	3	0	0	2	3	4	3	3	1	3	3	3	1	3	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:113534540G>T	ENST00000257600.3	+	9	2162	c.1659G>T	c.(1657-1659)acG>acT	p.T553T	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	553					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGCTCATCACGGCCTGGGAGA	0.642													18	17					3.99206e-14	4.76761e-14	1	0	T	113534540	G	T	113534540	2	4	382	1	0	0	0	0	0	0	0	1	4829	1103	39	3		3	DTX1	12	113534540	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1789770	113534540	20317355	337	73506											
DDX54	79039	broad.mit.edu	37	chr12	113617090	113617090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttgccactgcccgtcCgggccatggccaccacgtcc	4	8	10	19	3	1	0	0	0	1	0	3	0	3	0	7	2	2	0	7	2	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:113617090C>T	ENST00000314045.7	-	4	449	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	DDX54_ENST00000306014.5_Missense_Mutation_p.R141Q	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	141	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTGCCCGTCCGGGCCATGGC	0.642													18	13					0	0	0	0	T	113617090	C	T	113617090	3	4	382	1	0	0	0	0	1	0	0	0	4404	652	23	1	2294	1	DDX54	12	113617090	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	82550	113617090	20234805	338	73507											
NOS1	4842	broad.mit.edu	37	chr12	117660597	117660597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcttggcctgcagggtctCttccctgtagatatgatcta	6	15	10	10	0	3	2	0	1	3	1	5	2	4	2	2	2	1	3	2	2	3	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:117660597C>G	ENST00000317775.6	-	26	4583	c.3898G>C	c.(3898-3900)Gag>Cag	p.E1300Q	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E1334Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1300					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCAGGGTCTCTTCCCTGTAG	0.582													14	98					0	0	0	0	G	117660597	C	G	117660597	3	3	382	1	0	0	0	0	1	0	0	0	10611	922	32	2	422	2	NOS1	12	117660597	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4043507	117660597	16191298	339	73508											
MORN3	283385	broad.mit.edu	37	chr12	122107361	122107361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccttccacagggactccGacttttttgggcacttagag	8	11	9	13	1	0	1	0	0	0	1	2	3	2	2	4	2	0	1	4	2	1	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:122107361G>A	ENST00000355329.3	-	1	199	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	10										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAGGGACTCCGACTTTTTTGG	0.617													11	132					0	0	0	0	A	122107361	G	A	122107361	3	1	382	1	0	0	0	0	1	0	0	0	9779	1059	37	1	713	1	MORN3	12	122107361	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4446764	122107361	11744534	340	73509											
MLXIP	22877	broad.mit.edu	37	chr12	122620140	122620140	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctcttcccaagcacagcGcaagaccccctggggaaggg	9	4	13	15	2	1	1	0	0	1	1	2	2	2	2	3	4	2	3	3	4	3	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:122620140G>T	ENST00000319080.6	+	11	2091	c.1959G>T	c.(1957-1959)gcG>gcT	p.A653A	MLXIP_ENST00000538698.1_Silent_p.A260A			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAAGCACAGCGCAAGACCCCC	0.682													3	8					0.004672	0.00477001	1	0	T	122620140	G	T	122620140	2	4	382	1	0	0	0	0	0	0	0	1	9705	1074	38	3		3	MLXIP	12	122620140	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	512779	122620140	11231755	341	73510											
ULK1	8408	broad.mit.edu	37	chr12	132404649	132404649	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcacagcatcactgccGagaggctcatcttcagccac	10	8	8	15	1	5	1	4	0	1	1	5	2	5	1	2	1	3	3	2	1	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:132404649G>T	ENST00000321867.4	+	26	3280	c.2929G>T	c.(2929-2931)Gag>Tag	p.E977*	ULK1_ENST00000540647.1_Nonsense_Mutation_p.E222*	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	977					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCACTGCCGAGAGGCTCAT	0.652													8	28					9.70103e-10	1.09795e-09	1	0	T	132404649	G	T	132404649	4	4	382	1	0	0	0	0	0	1	0	0	17071	1059	37	3	3031	3	ULK1	12	132404649	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	9784509	132404649	1447246	342	73511											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20221135	20221135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggacatggggctggagCatggctttgagaagccccta	9	7	16	9	0	0	1	0	1	0	1	0	4	0	3	2	6	2	4	2	6	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:20221135C>A	ENST00000361479.5	+	3	990	c.922C>A	c.(922-924)Cat>Aat	p.H308N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.H308N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	308					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGGGCTGGAGCATGGCTTTGA	0.527													28	36					1.17739e-12	1.37795e-12	1	0	A	20221135	C	A	20221135	3	1	382	1	0	0	0	0	1	0	0	0	9797	710	25	4	932	4	MPHOSPH8	13	20221135	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		20221135	94948743	343	73512											
GPR12	2835	broad.mit.edu	37	chr13	27333515	27333515	+	Silent	SNP	C	C	G																															gtaaacgtgaccgtcctctcCgaatggtacgtcagagcgta																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:27333515C>G	ENST00000405846.3	-	2	671	c.450G>C	c.(448-450)tcG>tcC	p.S150S	GPR12_ENST00000381436.2_Silent_p.S150S	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	150						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CCGTCCTCTCCGAATGGTACG	0.582													18	18					0	0	0	0	G	27333515	C	G	27333515	2	3	382	1	0	0	0	0	0	0	0	1	6684	639	23	3		3	GPR12	13	27333515	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7112380	27333515	87836363	344	73513	997	2									
GPR12	2835	broad.mit.edu	37	chr13	27333516	27333516	+	Missense_Mutation	SNP	G	G	A																															taaacgtgaccgtcctctccGaatggtacgtcagagcgtag																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:27333516G>A	ENST00000405846.3	-	2	670	c.449C>T	c.(448-450)tCg>tTg	p.S150L	GPR12_ENST00000381436.2_Missense_Mutation_p.S150L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	150						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CGTCCTCTCCGAATGGTACGT	0.577													17	17					0	0	0	0	A	27333516	G	A	27333516	3	1	382	1	0	0	0	0	1	0	0	0	6684	1059	37	1	559	1	GPR12	13	27333516	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1	27333516	87836362	345	73514	997	2									
ENOX1	55068	broad.mit.edu	37	chr13	43839571	43839571	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccattggtctcgaccAattccttggtaccttttaac	7	15	8	11	1	1	0	0	0	1	0	3	1	2	0	4	3	2	1	4	3	3	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:43839571A>T	ENST00000261488.6	-	14	2151	c.1574T>A	c.(1573-1575)tTg>tAg	p.L525*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.L525*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	525					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGTCTCGACCAATTCCTTGGT	0.368													67	118					0	0	0	0	T	43839571	A	T	43839571	4	4	382	1	0	0	0	0	0	1	0	0	5164	131	5	5	373	5	ENOX1	13	43839571	Nonsense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	16506055	43839571	71330307	346	73515											
RBM26	64062	broad.mit.edu	37	chr13	79894824	79894824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcttgaagtaatgagtcatCcaccaaagactcttcctgaa	14	11	6	10	0	3	4	1	3	2	1	5	4	5	4	3	0	0	1	3	0	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:79894824C>G	ENST00000438737.2	-	22	3396	c.2956G>C	c.(2956-2958)Gat>Cat	p.D986H	RBM26_ENST00000438724.1_Missense_Mutation_p.D962H|RBM26_ENST00000267229.7_Missense_Mutation_p.D959H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	986					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AATGAGTCATCCACCAAAGAC	0.313													17	40					0	0	0	0	G	79894824	C	G	79894824	3	3	382	1	0	0	0	0	1	0	0	0	13208	855	30	2	71	2	RBM26	13	79894824	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	36055253	79894824	35275054	347	73516											
SLC15A1	6564	broad.mit.edu	37	chr13	99337073	99337073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcaaattgagcttcgaTctccgctgggttgatgtaag	9	13	10	9	2	3	2	2	2	1	0	5	3	3	2	1	1	1	4	1	1	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:99337073T>A	ENST00000376503.5	-	23	2087	c.2032A>T	c.(2032-2034)Atc>Ttc	p.I678F		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	678					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TGAGCTTCGATCTCCGCTGGG	0.438													32	67					0	0	0	0	A	99337073	T	A	99337073	3	1	382	1	0	0	0	0	1	0	0	0	14486	1435	50	5	98	5	SLC15A1	13	99337073	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	19442249	99337073	15832805	348	73517											
COL4A2	1284	broad.mit.edu	37	chr13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgggtccccaggggaggcGaggcccccctggggcaccgg	5	3	19	14	2	0	0	0	0	0	0	1	2	1	1	6	8	0	1	6	8	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731													10	36					0	0	0	0	A	111156284	G	A	111156284	3	1	382	1	0	0	0	0	1	0	0	0	3720	1058	37	1	4399	1	COL4A2	13	111156284	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	11819211	111156284	4013594	349	73518											
GRTP1	79774	broad.mit.edu	37	chr13	113999189	113999189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacatacctggtagtattCttccaacaagagcatctaac	14	11	5	11	0	3	1	1	0	2	1	4	1	4	1	2	1	5	3	2	1	7	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:113999189C>T	ENST00000375430.4	-	5	597	c.551G>A	c.(550-552)aGa>aAa	p.R184K	GRTP1_ENST00000375431.4_Missense_Mutation_p.R184K|GRTP1_ENST00000326039.3_Missense_Mutation_p.R106K			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	184	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGGTAGTATTCTTCCAACAAG	0.343													12	156					0	0	0	0	T	113999189	C	T	113999189	3	4	382	1	0	0	0	0	1	0	0	0	6860	913	32	2	475	2	GRTP1	13	113999189	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2842905	113999189	1170689	350	73519											
OR4M1	441670	broad.mit.edu	37	chr14	20249338	20249338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatattccctttacttaatcCcattatttacacattgagaa	14	16	2	9	0	0	1	0	1	0	1	2	2	2	1	2	0	2	0	2	0	7	9			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:20249338C>T	ENST00000315957.4	+	1	938	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTTAATCCCATTATTTAC	0.363													28	85					0	0	0	0	T	20249338	C	T	20249338	3	4	382	1	0	0	0	0	1	0	0	0	11146	623	22	4	859	4	OR4M1	14	20249338	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		20249338	87100202	351	73520											
OR11H6	122748	broad.mit.edu	37	chr14	20692494	20692494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcactggcctgcatctCtgctccttccactgagctta	5	14	8	14	0	1	1	0	1	1	0	4	1	3	1	3	1	4	5	3	1	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:20692494C>A	ENST00000315519.2	+	1	704	c.626C>A	c.(625-627)tCt>tAt	p.S209Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTGCATCTCTGCTCCTTCC	0.498													41	30					1.62957e-23	2.13379e-23	1	0	A	20692494	C	A	20692494	3	1	382	1	0	0	0	0	1	0	0	0	11000	913	32	2	628	2	OR11H6	14	20692494	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	443156	20692494	86657046	352	73521											
WDHD1	11169	broad.mit.edu	37	chr14	55454021	55454021	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccttgaccgagacatatGgcttcaatatcctcattctg	10	13	6	12	1	3	2	2	1	1	1	5	3	5	2	3	1	0	1	3	1	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:55454021G>T	ENST00000360586.3	-	14	1676	c.1611C>A	c.(1609-1611)gcC>gcA	p.A537A	WDHD1_ENST00000421192.1_Silent_p.A414A|WDHD1_ENST00000359167.4_Silent_p.A55A|WDHD1_ENST00000420358.2_Silent_p.A414A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	537						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CGAGACATATGGCTTCAATAT	0.438													29	81					3.67414e-24	4.83265e-24	1	0	T	55454021	G	T	55454021	2	4	382	1	0	0	0	0	0	0	0	1	17367	1335	47	4		4	WDHD1	14	55454021	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	34761527	55454021	51895519	353	73522											
C14orf39	317761	broad.mit.edu	37	chr14	60921825	60921825	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtccaggggattcctttTctgtttgaacttcaggtact	9	15	9	8	0	2	1	1	1	1	0	4	2	4	2	2	3	2	2	2	3	3	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:60921825T>A	ENST00000321731.3	-	16	1556	c.1397A>T	c.(1396-1398)gAa>gTa	p.E466V		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	466										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGATTCCTTTTCTGTTTGAAC	0.294													118	47					0	0	0	0	A	60921825	T	A	60921825	3	1	382	1	0	0	0	0	1	0	0	0	1784	1783	62	5	378	5	C14orf39	14	60921825	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	5467804	60921825	46427715	354	73523											
SYNE2	23224	broad.mit.edu	37	chr14	64483263	64483263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaccaggtctgcaaaaatCtacaattttatctaaataaa	19	12	3	7	0	3	0	0	0	3	0	3	0	3	0	1	1	3	1	1	1	11	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:64483263C>G	ENST00000358025.3	+	33	5031	c.4801C>G	c.(4801-4803)Cta>Gta	p.L1601V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.L1601V|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1601V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1601					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGCAAAAATCTACAATTTTA	0.279													11	91					0	0	0	0	G	64483263	C	G	64483263	3	3	382	1	0	0	0	0	1	0	0	0	15537	912	32	2	4927	2	SYNE2	14	64483263	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3561438	64483263	42866277	355	73524											
TTC7B	145567	broad.mit.edu	37	chr14	91084308	91084308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtagcaggatttccatatCtgcagcatgtgcttacaagt	10	14	9	8	0	1	0	0	0	1	0	2	1	2	1	1	1	5	5	1	1	4	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:91084308C>G	ENST00000357056.2	-	16	1954	c.1833G>C	c.(1831-1833)caG>caC	p.Q611H	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.Q611H			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	611							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ATTTCCATATCTGCAGCATGT	0.547													28	65					0	0	0	0	G	91084308	C	G	91084308	3	3	382	1	0	0	0	0	1	0	0	0	16809	912	32	2	718	2	TTC7B	14	91084308	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	26601045	91084308	16265232	356	73525											
ZNF839	55778	broad.mit.edu	37	chr14	102800948	102800948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctctgcctcagctggctCaggttgtgaccgtgtatgag	5	12	14	10	1	3	2	2	2	1	0	3	2	3	2	2	3	2	5	2	3	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:102800948C>G	ENST00000262236.5	+	4	1481	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	ZNF839_ENST00000559185.1_Missense_Mutation_p.Q376E|ZNF839_ENST00000558850.1_Missense_Mutation_p.Q376E|ZNF839_ENST00000442396.2_Missense_Mutation_p.Q492E	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	376						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCAGCTGGCTCAGGTTGTGAC	0.433													7	13					0	0	0	0	G	102800948	C	G	102800948	3	3	382	1	0	0	0	0	1	0	0	0	18281	827	29	2	1488	2	ZNF839	14	102800948	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	11716640	102800948	4548592	357	73526											
OR4M2	390538	broad.mit.edu	37	chr15	22369133	22369133	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacatcacacaggttgtccgGattgcctgtgccaacacctt	9	10	9	13	1	1	0	1	0	0	0	2	2	2	1	4	2	3	1	4	2	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:22369133G>T	ENST00000332663.2	+	1	656	c.558G>T	c.(556-558)cgG>cgT	p.R186R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R186R(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)		AGGTTGTCCGGATTGCCTGTG	0.458													54	221					1.34159e-35	1.84351e-35	1	0	T	22369133	G	T	22369133	2	4	382	1	0	0	0	0	0	0	0	1	11147	1161	41	2		2	OR4M2	15	22369133	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		22369133	80162259	358	73527											
HERC2	8924	broad.mit.edu	37	chr15	28380704	28380704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagacagggcaaggcaGtgctttcctccagagttcac	10	9	11	11	0	2	3	1	1	1	2	4	3	4	3	2	2	1	4	2	2	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:28380704G>C	ENST00000261609.7	-	79	12258	c.12150C>G	c.(12148-12150)caC>caG	p.H4050Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4050					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGCAAGGCAGTGCTTTCCTC	0.463													69	127					0	0	0	0	C	28380704	G	C	28380704	3	2	382	1	0	0	0	0	1	0	0	0	7108	1020	36	4	2414	4	HERC2	15	28380704	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6011571	28380704	74150688	359	73528											
VPS39	23339	broad.mit.edu	37	chr15	42470704	42470704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctttggaccagaagcctCggttcaaatgttcggatctc	9	12	10	10	2	2	1	1	0	1	1	5	3	2	3	2	3	2	3	2	3	2	3	rs138294459		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:42470704C>T	ENST00000318006.5	-	9	945	c.783G>A	c.(781-783)ccG>ccA	p.P261P	VPS39_ENST00000348544.4_Silent_p.P272P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	272	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCAGAAGCCTCGGTTCAAATG	0.453													36	67					0	0	0	0	T	42470704	C	T	42470704	2	4	382	1	0	0	0	0	0	0	0	1	17305	871	31	1		1	VPS39	15	42470704	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	14090000	42470704	60060688	360	73529											
TUBGCP4	27229	broad.mit.edu	37	chr15	43678106	43678106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaatcctatttgttggaGaatctgtccagatgtttgag	13	14	9	5	0	1	3	0	1	1	2	3	4	3	3	2	1	0	2	2	1	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:43678106G>C	ENST00000564079.1	+	8	1081	c.841G>C	c.(841-843)Gaa>Caa	p.E281Q	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E145Q|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E281Q	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	281					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTTGTTGGAGAATCTGTCCA	0.418													7	68					0	0	0	0	C	43678106	G	C	43678106	3	2	382	1	0	0	0	0	1	0	0	0	16864	943	33	2	871	2	TUBGCP4	15	43678106	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1207402	43678106	58853286	361	73530											
SQRDL	58472	broad.mit.edu	37	chr15	45968409	45968409	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatccaggagcggaacctCactgttaactacaagaaaaa	17	7	7	10	1	2	1	2	0	0	1	3	3	3	3	2	2	4	1	2	2	6	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:45968409C>T	ENST00000260324.7	+	6	1151	c.765C>T	c.(763-765)ctC>ctT	p.L255L	RP11-96O20.4_ENST00000564080.1_Silent_p.L255L|SQRDL_ENST00000568606.1_Silent_p.L255L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	255							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGCGGAACCTCACTGTTAACT	0.458													52	119					0	0	0	0	T	45968409	C	T	45968409	2	4	382	1	0	0	0	0	0	0	0	1	15219	813	29	2		2	SQRDL	15	45968409	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2290303	45968409	56562983	362	73531											
HDC	3067	broad.mit.edu	37	chr15	50555480	50555480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagatgctgtcccagctGtcggggtcctcaggagcact	8	8	12	13	1	1	1	1	0	0	1	4	2	3	2	3	3	3	3	3	3	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:50555480G>T	ENST00000267845.3	-	2	558	c.156C>A	c.(154-156)gaC>gaA	p.D52E	HDC_ENST00000543581.1_Missense_Mutation_p.D52E	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	52					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGTCCCAGCTGTCGGGGTCCT	0.597													29	106					2.46105e-21	3.17977e-21	1	0	T	50555480	G	T	50555480	3	4	382	1	0	0	0	0	1	0	0	0	7065	1368	48	4	1876	4	HDC	15	50555480	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4587071	50555480	51975912	363	73532											
USP8	9101	broad.mit.edu	37	chr15	50784949	50784949	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttctgcttctcagatTcggaacctcaatcctgtttt	7	16	7	11	1	3	1	2	0	2	1	6	2	4	2	2	2	2	3	2	2	2	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:50784949T>A	ENST00000433963.1	+	16	2786	c.2286T>A	c.(2284-2286)atT>atA	p.I762I	USP8_ENST00000396444.3_Silent_p.I762I|USP8_ENST00000307179.4_Silent_p.I762I|USP8_ENST00000425032.3_Silent_p.I656I	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	762					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTCTCAGATTCGGAACCTCA	0.398													23	77					0	0	0	0	A	50784949	T	A	50784949	2	1	382	1	0	0	0	0	0	0	0	1	17185	1771	62	5		5	USP8	15	50784949	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	229469	50784949	51746443	364	73533											
UNC13C	440279	broad.mit.edu	37	chr15	54799343	54799343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaagtgctgctccagtatgCtgcaattgtatcaagtgatt	11	14	9	7	0	1	1	1	1	0	0	2	1	2	1	1	0	4	6	1	0	6	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:54799343C>T	ENST00000545554.1	+	22	5330	c.5330C>T	c.(5329-5331)gCt>gTt	p.A1777V	UNC13C_ENST00000260323.11_Missense_Mutation_p.A1777V|UNC13C_ENST00000537900.1_Missense_Mutation_p.A1775V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1777	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCAGTATGCTGCAATTGTA	0.318													6	15					0	0	0	0	T	54799343	C	T	54799343	3	4	382	1	0	0	0	0	1	0	0	0	17082	797	28	4	5412	4	UNC13C	15	54799343	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4014394	54799343	47732049	365	73534											
VPS13C	54832	broad.mit.edu	37	chr15	62146686	62146686	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattggggtctgagaagtctCactgatgactgcttcatcaa	11	12	10	8	0	4	3	3	3	2	1	5	4	4	3	0	2	1	1	0	2	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:62146686C>G	ENST00000261517.5	-	85	11305	c.11232G>C	c.(11230-11232)gtG>gtC	p.V3744V	VPS13C_ENST00000249837.3_Silent_p.V3701V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3744					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGAAGTCTCACTGATGACT	0.408													5	206					0	0	0	0	G	62146686	C	G	62146686	2	3	382	1	0	0	0	0	0	0	0	1	17287	813	29	2		2	VPS13C	15	62146686	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7347343	62146686	40384706	366	73535											
C15orf27	123591	broad.mit.edu	37	chr15	76496319	76496319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccgcgaggagccgtcctCtgagcccggcccttctcccc	3	7	11	20	4	2	1	0	1	2	0	4	3	3	2	7	2	3	0	7	2	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:76496319C>G	ENST00000388942.3	+	11	1535	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	420						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GAGCCGTCCTCTGAGCCCGGC	0.701													9	24					0	0	0	0	G	76496319	C	G	76496319	3	3	382	1	0	0	0	0	1	0	0	0	1800	913	32	2	1297	2	C15orf27	15	76496319	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	14349633	76496319	26035073	367	73536											
ISL2	64843	broad.mit.edu	37	chr15	76634116	76634116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccggcagcgacgtgacctcCctgtcctcgcagctcccgga	5	7	11	18	5	0	1	0	1	0	0	5	3	4	2	5	2	2	3	5	2	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:76634116C>A	ENST00000290759.4	+	6	1180	c.1020C>A	c.(1018-1020)tcC>tcA	p.S340S	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	340						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ACGTGACCTCCCTGTCCTCGC	0.687													22	54					3.5997e-14	4.31668e-14	1	0	A	76634116	C	A	76634116	2	1	382	1	0	0	0	0	0	0	0	1	7910	610	22	4		4	ISL2	15	76634116	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	137797	76634116	25897276	368	73537											
ACAN	176	broad.mit.edu	37	chr15	89402183	89402183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgaggccagcagagaaGattctgggtcccctgatctg	8	8	12	13	0	2	4	0	2	2	2	3	5	3	4	5	2	1	1	5	2	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:89402183G>C	ENST00000439576.2	+	12	6741	c.6367G>C	c.(6367-6369)Gat>Cat	p.D2123H	ACAN_ENST00000561243.1_Missense_Mutation_p.D2123H|ACAN_ENST00000352105.7_Missense_Mutation_p.D2123H|ACAN_ENST00000559004.1_Missense_Mutation_p.D2123H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2123					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCAGAGAAGATTCTGGGTC	0.547													5	67					0	0	0	0	C	89402183	G	C	89402183	3	2	382	1	0	0	0	0	1	0	0	0	117	942	33	2	6409	2	ACAN	15	89402183	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	12768067	89402183	13129209	369	73538											
SEMA4B	10509	broad.mit.edu	37	chr15	90766792	90766792	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccgactctccctccaggGcgatgagggtggagagcggg	7	6	16	12	3	1	2	0	1	1	1	4	5	3	2	3	4	1	0	3	4	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:90766792G>T	ENST00000411539.2	+	8	1123	c.861_splice	c.e8-1	p.G288_splice	SEMA4B_ENST00000379122.3_Splice_Site_p.G283_splice|SEMA4B_ENST00000332496.6_Splice_Site_p.G288_splice	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCCTCCAGGGCGATGAGGGT	0.647													4	17					0.000602214	0.00061809	1	0	T	90766792	G	T	90766792	5	4	382	1	0	0	0	0	0	0	1	0	14119	1217	42	4	893	4	SEMA4B	15	90766792	Splice_Site	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1364609	90766792	11764600	370	73539											
ABCA3	21	broad.mit.edu	37	chr16	2376014	2376014	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccggcatgtctcacctcGcatgttgatcacaagtgccc	7	9	9	16	2	2	1	2	1	1	0	4	1	2	1	4	1	1	3	4	1	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:2376014G>A	ENST00000301732.5	-	5	1016	c.316C>T	c.(316-318)Cga>Tga	p.R106*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.R106*|ABCA3_ENST00000567910.1_Nonsense_Mutation_p.R106*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	106					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTCTCACCTCGCATGTTGATC	0.642													12	35					0	0	0	0	A	2376014	G	A	2376014	4	1	382	1	0	0	0	0	0	1	0	0	33	1095	38	1	4914	1	ABCA3	16	2376014	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		2376014	87978739	371	73540											
NAGPA	51172	broad.mit.edu	37	chr16	5077278	5077278	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccttggagggataggtaCctctggagacgctgcagttg	7	10	14	10	1	1	1	0	0	1	1	2	4	2	3	3	4	2	4	3	4	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:5077278C>T	ENST00000312251.3	-	8	1296		c.e8+1		RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Intron	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase						carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGGATAGGTACCTCTGGAGAC	0.607													16	29					0	0	0	0	T	5077278	C	T	5077278	5	4	382	1	0	0	0	0	0	0	1	0	10214	521	18	4	282	4	NAGPA	16	5077278	Splice_Site	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2701264	5077278	85277475	372	73541											
ZP2	7783	broad.mit.edu	37	chr16	21218290	21218290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttgttcatgactctgaTggtcatctggtgtccaccat	7	15	9	10	0	4	2	2	2	2	0	5	2	5	2	2	2	0	2	2	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:21218290T>C	ENST00000574002.1	-	6	834	c.352A>G	c.(352-354)Atc>Gtc	p.I118V	ZP2_ENST00000219593.4_Missense_Mutation_p.I118V|ZP2_ENST00000574091.1_Missense_Mutation_p.I118V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	118					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ATGACTCTGATGGTCATCTGG	0.488													53	118					0	0	0	0	C	21218290	T	C	21218290	3	2	382	1	0	0	0	0	1	0	0	0	18309	1464	51	5	1945	5	ZP2	16	21218290	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	16141012	21218290	69136463	373	73542											
ZP2	7783	broad.mit.edu	37	chr16	21221024	21221024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaggatgtaagtgcagttCggcatgtcgagaccaagagg	11	8	14	8	2	0	2	0	0	0	2	3	4	1	3	2	3	1	4	2	3	2	2	rs150656642		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:21221024C>T	ENST00000574002.1	-	5	740	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ZP2_ENST00000219593.4_Silent_p.P86P|ZP2_ENST00000574091.1_Silent_p.P86P			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	86					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGTGCAGTTCGGCATGTCGA	0.498													18	59					0	0	0	0	T	21221024	C	T	21221024	2	4	382	1	0	0	0	0	0	0	0	1	18309	871	31	1		1	ZP2	16	21221024	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2734	21221024	69133729	374	73543											
LCMT1	51451	broad.mit.edu	37	chr16	25176024	25176024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttttgagagagccatgttCataaactacgaacaggtaaa	16	10	9	6	1	1	2	1	1	0	1	1	4	1	2	1	1	4	3	1	1	6	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:25176024C>T	ENST00000399069.3	+	7	830	c.675C>T	c.(673-675)ttC>ttT	p.F225F	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.F170F	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	225							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGCCATGTTCATAAACTACG	0.502													30	68					0	0	0	0	T	25176024	C	T	25176024	2	4	382	1	0	0	0	0	0	0	0	1	8731	825	29	2		2	LCMT1	16	25176024	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3955000	25176024	65178729	375	73544											
SHCBP1	79801	broad.mit.edu	37	chr16	46650005	46650005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctcacttgagagtcaCagaggtatggttcagcaagc	12	9	12	8	0	3	2	3	1	0	2	3	3	3	2	0	2	3	4	0	2	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:46650005C>A	ENST00000303383.3	-	4	715	c.449G>T	c.(448-450)tGt>tTt	p.C150F		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	150										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TTGAGAGTCACAGAGGTATGG	0.468													26	78					1.77063e-15	2.14979e-15	1	0	A	46650005	C	A	46650005	3	1	382	1	0	0	0	0	1	0	0	0	14362	478	17	4	1609	4	SHCBP1	16	46650005	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	21473981	46650005	43704748	376	73545											
CHD9	80205	broad.mit.edu	37	chr16	53272347	53272347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttctgactggtataagagGacctttcctgattattgctc	8	15	8	10	0	1	3	0	2	1	1	3	4	2	4	3	2	1	2	3	2	3	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:53272347G>C	ENST00000566029.1	+	12	2935	c.2726G>C	c.(2725-2727)gGa>gCa	p.G909A	CHD9_ENST00000398510.3_Missense_Mutation_p.G909A|CHD9_ENST00000564845.1_Missense_Mutation_p.G909A|CHD9_ENST00000447540.1_Missense_Mutation_p.G909A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	909	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGTATAAGAGGACCTTTCCTG	0.393													28	83					0	0	0	0	C	53272347	G	C	53272347	3	2	382	1	0	0	0	0	1	0	0	0	3361	1174	41	2	2768	2	CHD9	16	53272347	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6622342	53272347	37082406	377	73546											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53730185	53730185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacactgcctggcgagacttCattgtccgtgttgttgaagt	7	13	12	9	2	1	2	1	1	0	1	2	4	2	2	2	1	1	2	2	1	1	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:53730185C>T	ENST00000262135.4	-	3	201	c.108G>A	c.(106-108)atG>atA	p.M36I	RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.M36I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	36					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGCGAGACTTCATTGTCCGTG	0.383													69	170					0	0	0	0	T	53730185	C	T	53730185	3	4	382	1	0	0	0	0	1	0	0	0	13635	826	29	2	3939	2	RPGRIP1L	16	53730185	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	457838	53730185	36624568	378	73547											
IRX3	79191	broad.mit.edu	37	chr16	54319355	54319355	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttcttgcggtgctcgttGagccaggccttcagcgtgct	3	12	15	11	3	2	1	1	1	1	0	3	1	2	1	2	3	5	4	2	3	0	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:54319355G>C	ENST00000329734.3	-	2	1150	c.438C>G	c.(436-438)ctC>ctG	p.L146L		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	146					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GGTGCTCGTTGAGCCAGGCCT	0.632													13	72					0	0	0	0	C	54319355	G	C	54319355	2	2	382	1	0	0	0	0	0	0	0	1	7898	1277	45	2		2	IRX3	16	54319355	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	589170	54319355	36035398	379	73548											
HAS3	3038	broad.mit.edu	37	chr16	69148737	69148737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccgcatctggaacattctCctcttcctgctgacggtgca	6	11	10	14	2	3	1	0	1	3	0	5	2	4	2	3	3	3	3	3	3	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:69148737C>T	ENST00000306560.1	+	4	1386	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.L410L	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	410					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGAACATTCTCCTCTTCCTGC	0.547													49	130					0	0	0	0	T	69148737	C	T	69148737	2	4	382	1	0	0	0	0	0	0	0	1	7013	842	30	2		2	HAS3	16	69148737	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	14829382	69148737	21206016	380	73549											
ADAMTS18	170692	broad.mit.edu	37	chr16	77356280	77356280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttttgtttggggagcaggGagttccatctttcactttgc	6	17	11	7	0	2	0	1	0	1	0	3	2	3	2	1	3	2	3	1	3	0	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:77356280G>A	ENST00000282849.5	-	14	2534	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						GGGGAGCAGGGAGTTCCATCT	0.398													40	91					0	0	0	0	A	77356280	G	A	77356280	3	1	382	1	0	0	0	0	1	0	0	0	263	1174	41	2	1589	2	ADAMTS18	16	77356280	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	8207543	77356280	12998473	381	73550											
CMIP	80790	broad.mit.edu	37	chr16	81726769	81726769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttttgttgcagagctctCgcacatgagaagttcaccaa	10	13	9	9	1	2	2	1	1	1	2	3	3	2	2	1	0	2	6	1	0	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:81726769C>T	ENST00000537098.3	+	12	1533	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	CMIP_ENST00000398040.4_Silent_p.L334L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.L393L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	453						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GCAGAGCTCTCGCACATGAGA	0.542													15	19					0	0	0	0	T	81726769	C	T	81726769	2	4	382	1	0	0	0	0	0	0	0	1	3608	871	31	1		1	CMIP	16	81726769	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4370489	81726769	8627984	382	73551											
TAF1C	9013	broad.mit.edu	37	chr16	84218573	84218573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagaaacaatgcagggcGgagggagctggggaagtcca	12	4	18	7	1	1	1	1	0	0	1	2	4	2	4	1	6	3	2	1	6	3	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:84218573G>A	ENST00000567759.1	-	2	204	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.R8C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R8C|TAF1C_ENST00000570117.1_Intron	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	8					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AATGCAGGGCGGAGGGAGCTG	0.612													12	18					0	0	0	0	A	84218573	G	A	84218573	3	1	382	1	0	0	0	0	1	0	0	0	15612	1116	39	1	2639	1	TAF1C	16	84218573	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2491804	84218573	6136180	383	73552											
ZCCHC14	23174	broad.mit.edu	37	chr16	87446152	87446152	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtccggggaccaaaggaGactgtgggtgacatggagct	9	8	17	7	1	0	2	0	1	0	1	1	5	1	4	2	6	1	1	2	6	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:87446152G>C	ENST00000268616.4	-	12	1981	c.1764C>G	c.(1762-1764)gtC>gtG	p.V588V		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	588					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GACCAAAGGAGACTGTGGGTG	0.647													4	62					0	0	0	0	C	87446152	G	C	87446152	2	2	382	1	0	0	0	0	0	0	0	1	17678	929	33	2		2	ZCCHC14	16	87446152	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3227579	87446152	2908601	384	73553											
MC1R	4157	broad.mit.edu	37	chr16	89986156	89986156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgcgggcgcggcgaGccgttgcggccatctgggtg	2	6	18	15	7	1	0	0	0	1	0	1	1	1	0	4	4	3	1	4	4	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:89986156G>A	ENST00000555427.1	+	3	2793	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	MC1R_ENST00000555147.1_Missense_Mutation_p.A164T|TUBB3_ENST00000556922.1_Missense_Mutation_p.A164T					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCGCGGCGAGCCGTTGCGGC	0.647									Melanoma, Familial Clustering of				25	43					0	0	0	0	A	89986156	G	A	89986156	3	1	382	1	0	0	0	0	1	0	0	0	9432	971	34	4	492	4	MC1R	16	89986156	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2540004	89986156	368597	385	73554											
SLC16A13	201232	broad.mit.edu	37	chr17	6942176	6942176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttgcagatgatagagaGcatcggggggctgctggggc	8	8	18	7	1	0	3	0	1	0	2	1	4	0	3	0	5	3	5	0	5	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:6942176G>T	ENST00000308027.6	+	3	1357	c.1049G>T	c.(1048-1050)aGc>aTc	p.S350I		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	350						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATGATAGAGAGCATCGGGGGG	0.577													94	79					1.09905e-38	1.51378e-38	1	0	T	6942176	G	T	6942176	3	4	382	1	0	0	0	0	1	0	0	0	14494	971	34	4	1059	4	SLC16A13	17	6942176	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		6942176	74253034	386	73555											
SHBG	6462	broad.mit.edu	37	chr17	7534132	7534132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccaactgcacaatcactGggcccagcttacggtgggtg	9	8	12	12	1	1	0	1	0	0	0	2	1	2	0	2	3	4	2	2	3	3	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:7534132G>T	ENST00000380450.4	+	3	369	c.338G>T	c.(337-339)tGg>tTg	p.W113L	SHBG_ENST00000574539.1_Missense_Mutation_p.W55L|SHBG_ENST00000575314.1_Missense_Mutation_p.W55L|SHBG_ENST00000441599.2_Missense_Mutation_p.W113L|SHBG_ENST00000572262.1_Missense_Mutation_p.W55L|SHBG_ENST00000576478.1_Missense_Mutation_p.W55L|SHBG_ENST00000340624.5_Missense_Mutation_p.W55L|SHBG_ENST00000572182.1_Missense_Mutation_p.W55L|SHBG_ENST00000416273.3_Missense_Mutation_p.W113L|SHBG_ENST00000570547.1_Missense_Mutation_p.W55L|SHBG_ENST00000575903.1_Missense_Mutation_p.W113L|SHBG_ENST00000576728.1_Missense_Mutation_p.W55L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	113	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	CACAATCACTGGGCCCAGCTT	0.567													53	21					8.44121e-28	1.14113e-27	1	0	T	7534132	G	T	7534132	3	4	382	1	0	0	0	0	1	0	0	0	14357	1357	47	4	348	4	SHBG	17	7534132	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	591956	7534132	73661078	387	73556											
TP53	7157	broad.mit.edu	37	chr17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacggggggagcagcctCtggcattctgggagcttcat	6	8	16	11	1	3	0	1	0	2	0	3	2	3	2	2	6	3	3	2	6	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:7579485C>A	ENST00000420246.2	-	4	334	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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)		GGAGCAGCCTCTGGCATTCTG	0.607		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)			154	92					3.11347e-79	4.33953e-79	1	0	A	7579485	C	A	7579485	4	1	382	1	0	0	0	0	0	1	0	0	16476	922	32	2	1100	2	TP53	17	7579485	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	45353	7579485	73615725	388	73557											
CCDC42	146849	broad.mit.edu	37	chr17	8647480	8647480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggatggggactccgacgCcccctcaacattggggagtt	8	8	14	11	2	1	0	1	0	0	0	2	5	2	3	3	5	1	1	3	5	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:8647480C>T	ENST00000293845.3	-	2	332	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	CCDC42_ENST00000539522.2_Missense_Mutation_p.A36T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	36										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GACTCCGACGCCCCCTCAACA	0.542													59	29					0	0	0	0	T	8647480	C	T	8647480	3	4	382	1	0	0	0	0	1	0	0	0	2840	739	26	4	868	4	CCDC42	17	8647480	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1067995	8647480	72547730	389	73558											
MYH4	4622	broad.mit.edu	37	chr17	10360894	10360894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggcatagtgcaccagtgaGaagtgagcctcaggcttgcc	9	7	13	12	1	1	2	1	2	0	1	1	3	1	2	4	2	3	3	4	2	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:10360894G>A	ENST00000255381.2	-	16	1850	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	580	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCACCAGTGAGAAGTGAGCCT	0.532													108	61					0	0	0	0	A	10360894	G	A	10360894	2	1	382	1	0	0	0	0	0	0	0	1	10107	933	33	2		2	MYH4	17	10360894	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1713414	10360894	70834316	390	73559											
FAM83G	644815	broad.mit.edu	37	chr17	18907342	18907342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgtccagacactgcacctGagagaaggccatggcgccgc	9	5	13	14	3	0	3	0	1	0	2	2	4	1	3	4	2	1	1	4	2	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:18907342G>C	ENST00000388995.6	-	2	236	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q5E|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.Q5E|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	5										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CACTGCACCTGAGAGAAGGCC	0.692													4	57					0	0	0	0	C	18907342	G	C	18907342	3	2	382	1	0	0	0	0	1	0	0	0	5685	1299	45	2	2478	2	FAM83G	17	18907342	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	8546448	18907342	62287868	391	73560											
ERBB2	2064	broad.mit.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttctacggacgtgggatCctgcaccctcgtctgccccc	4	10	9	18	3	2	0	0	0	2	0	4	2	3	2	5	2	3	1	5	2	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			79	162					0	0	0	0	T	37868208	C	T	37868208	3	4	382	1	0	0	0	0	1	0	0	0	5244	855	30	2	959	2	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	18960866	37868208	43327002	392	73561											
WNK4	65266	broad.mit.edu	37	chr17	40939915	40939915	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccatctctgcctgcccTcggtgagagggggtcgcatg	5	9	14	13	2	1	1	0	1	1	1	5	2	2	1	3	3	2	1	3	3	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:40939915T>A	ENST00000246914.5	+	8	1882	c.1861T>A	c.(1861-1863)Tcg>Acg	p.S621T	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	621					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGCCTGCCCTCGGTGAGAGG	0.627													28	54					0	0	0	0	A	40939915	T	A	40939915	3	1	382	1	0	0	0	0	1	0	0	0	17476	1551	54	5	1891	5	WNK4	17	40939915	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	3071707	40939915	40255295	393	73562											
MPP2	4355	broad.mit.edu	37	chr17	41975712	41975712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagcccccgtggcactgGggagggatcccaagttgtcc	6	7	14	14	1	0	0	0	0	0	0	2	2	2	2	4	4	2	3	4	4	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:41975712G>A	ENST00000269095.4	-	3	372	c.68C>T	c.(67-69)cCc>cTc	p.P23L	MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.P68L|MPP2_ENST00000523501.1_Missense_Mutation_p.P12L|MPP2_ENST00000377184.3_Missense_Mutation_p.P40L|MPP2_ENST00000461854.1_Missense_Mutation_p.P23L|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000536246.1_Missense_Mutation_p.P12L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	23	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGTGGCACTGGGGAGGGATCC	0.567													11	25					0	0	0	0	A	41975712	G	A	41975712	3	1	382	1	0	0	0	0	1	0	0	0	9804	1232	43	4	1634	4	MPP2	17	41975712	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1035797	41975712	39219498	394	73563											
DBF4B	80174	broad.mit.edu	37	chr17	42827996	42827996	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgggccagcagcgatGgacagaatcactagatggtg	10	6	16	9	2	1	2	1	0	0	2	1	4	1	3	1	4	3	2	1	4	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:42827996G>A	ENST00000315005.3	+	14	1361	c.1223G>A	c.(1222-1224)tGg>tAg	p.W408*	DBF4B_ENST00000393547.2_Nonsense_Mutation_p.W408*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	408					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CAGCAGCGATGGACAGAATCA	0.567													19	48					0	0	0	0	A	42827996	G	A	42827996	4	1	382	1	0	0	0	0	0	1	0	0	4282	1357	47	4	1322	4	DBF4B	17	42827996	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	852284	42827996	38367214	395	73564											
SPOP	8405	broad.mit.edu	37	chr17	47700159	47700159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggaggtggaggacttGgaacccttgacatcgccagt	8	8	14	11	2	0	1	0	1	0	0	1	5	0	5	3	5	2	0	3	5	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:47700159G>A	ENST00000393331.3	-	4	484	c.14C>T	c.(13-15)cCa>cTa	p.P5L	SPOP_ENST00000504102.1_Missense_Mutation_p.P5L|SPOP_ENST00000347630.2_Missense_Mutation_p.P5L|SPOP_ENST00000393328.2_Missense_Mutation_p.P5L|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.P5L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	5					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGGAGGACTTGGAACCCTTGA	0.493										Prostate(2;0.17)			4	104					0	0	0	0	A	47700159	G	A	47700159	3	1	382	1	0	0	0	0	1	0	0	0	15174	1348	47	4	1146	4	SPOP	17	47700159	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4872163	47700159	33495051	396	73565											
EME1	146956	broad.mit.edu	37	chr17	48452787	48452787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccagaaatagctgaaaCtgtcacacaaacacagccag	16	6	7	12	0	1	2	1	1	0	1	2	2	2	2	2	0	4	1	2	0	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:48452787C>A	ENST00000393271.2	+	2	300	c.218C>A	c.(217-219)aCt>aAt	p.T73N	EME1_ENST00000338165.4_Missense_Mutation_p.T73N|EME1_ENST00000511648.2_Missense_Mutation_p.T73N	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	73					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ATAGCTGAAACTGTCACACAA	0.443								Direct reversal of damage;Homologous recombination					34	69					9.62906e-15	1.16426e-14	1	0	A	48452787	C	A	48452787	3	1	382	1	0	0	0	0	1	0	0	0	5126	565	20	4	220	4	EME1	17	48452787	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	752628	48452787	32742423	397	73566											
PPM1E	22843	broad.mit.edu	37	chr17	57058310	57058310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcaaaatagttggaaagGgtacagtgaaaacatgagga	18	6	14	3	0	0	2	0	2	0	0	0	5	0	4	0	4	2	3	0	4	7	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:57058310G>C	ENST00000308249.2	+	7	2315	c.2186G>C	c.(2185-2187)gGg>gCg	p.G729A		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	738					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AGTTGGAAAGGGTACAGTGAA	0.408													42	65					0	0	0	0	C	57058310	G	C	57058310	3	2	382	1	0	0	0	0	1	0	0	0	12414	1232	43	4	2212	4	PPM1E	17	57058310	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	8605523	57058310	24136900	398	73567											
GH2	2689	broad.mit.edu	37	chr17	61958213	61958213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgccatacaccaggctGttggcgaagacgctcctgag	9	6	14	12	3	0	2	0	1	0	1	1	4	1	2	3	3	1	3	3	3	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:61958213G>T	ENST00000332800.7	-	4	508	c.375C>A	c.(373-375)aaC>aaA	p.N125K	GH2_ENST00000449787.2_Missense_Mutation_p.N110K|GH2_ENST00000423893.2_Missense_Mutation_p.N125K|GH2_ENST00000456543.2_Missense_Mutation_p.N125K	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	125						extracellular region	hormone activity	p.N125K(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ACACCAGGCTGTTGGCGAAGA	0.617													99	57					1.07111e-62	1.48935e-62	1	0	T	61958213	G	T	61958213	3	4	382	1	0	0	0	0	1	0	0	0	6419	1368	48	4	623	4	GH2	17	61958213	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4899903	61958213	19236997	399	73568											
SCN4A	6329	broad.mit.edu	37	chr17	62018796	62018796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgtagaacatctcaaagtCatcttcaccaaggggctcgc	11	9	8	13	2	4	1	3	0	2	1	7	1	4	1	1	2	1	2	1	2	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:62018796C>T	ENST00000578147.1	-	24	4922	c.4846G>A	c.(4846-4848)Gac>Aac	p.D1616N	SCN4A_ENST00000435607.1_Missense_Mutation_p.D1616N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1616					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATCTCAAAGTCATCTTCACCA	0.547													29	140					0	0	0	0	T	62018796	C	T	62018796	3	4	382	1	0	0	0	0	1	0	0	0	14007	826	29	2	668	2	SCN4A	17	62018796	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	60583	62018796	19176414	400	73569											
RGS9	8787	broad.mit.edu	37	chr17	63164373	63164373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctggactgccaggagaagGcatactggctggtgcaccga	9	6	14	12	1	0	1	0	0	0	1	0	4	0	2	3	5	3	3	3	5	2	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:63164373G>A	ENST00000449996.3	+	8	628	c.556G>A	c.(556-558)Gca>Aca	p.A186T	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000262406.9_Missense_Mutation_p.A186T|RGS9_ENST00000443584.3_Missense_Mutation_p.A186T	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	186					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAGGAGAAGGCATACTGGCT	0.562													3	26					0	0	0	0	A	63164373	G	A	63164373	3	1	382	1	0	0	0	0	1	0	0	0	13396	1203	42	4	586	4	RGS9	17	63164373	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1145577	63164373	18030837	401	73570											
RECQL5	9400	broad.mit.edu	37	chr17	73625553	73625553	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcccacccgcttgggtttGagctgtaaatgtgagcagga	8	10	13	10	1	0	2	0	2	0	0	1	3	1	3	2	2	2	6	2	2	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:73625553G>C	ENST00000317905.5	-	16	2109	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.L623L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	650					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTTGGGTTTGAGCTGTAAAT	0.617								Other identified genes with known or suspected DNA repair function					9	63					0	0	0	0	C	73625553	G	C	73625553	2	2	382	1	0	0	0	0	0	0	0	1	13285	1277	45	2		2	RECQL5	17	73625553	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	10461180	73625553	7569657	402	73571											
FBF1	85302	broad.mit.edu	37	chr17	73929084	73929084	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccctgcccttactttgttctCgcctttgaagaagggaacat	8	13	8	12	1	1	2	0	1	1	1	2	3	1	3	3	1	3	1	3	1	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:73929084C>G	ENST00000586717.1	-	4	390	c.117G>C	c.(115-117)gcG>gcC	p.A39A	FBF1_ENST00000319129.5_Silent_p.A39A|FBF1_ENST00000389570.4_Silent_p.A39A			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	39										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACTTTGTTCTCGCCTTTGAAG	0.473													21	21					0	0	0	0	G	73929084	C	G	73929084	2	3	382	1	0	0	0	0	0	0	0	1	5740	871	31	3		3	FBF1	17	73929084	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	303531	73929084	7266126	403	73572											
MGAT5B	146664	broad.mit.edu	37	chr17	74928828	74928828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccagcaacatggccgtgGtgtacggcaaggaggcgagc	10	4	17	10	3	0	0	0	0	0	0	0	2	0	1	2	6	4	3	2	6	3	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:74928828G>A	ENST00000569840.2	+	11	1967	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	MGAT5B_ENST00000301618.4_Missense_Mutation_p.V465M|MGAT5B_ENST00000428789.2_Missense_Mutation_p.V476M	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	465						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGCCGTGGTGTACGGCAA	0.662													10	71					0	0	0	0	A	74928828	G	A	74928828	3	1	382	1	0	0	0	0	1	0	0	0	9618	1261	44	4	1536	4	MGAT5B	17	74928828	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	999744	74928828	6266382	404	73573											
MYOM1	8736	broad.mit.edu	37	chr18	3155075	3155075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggggctccttcaatctCtgcatcagcatctgtggaga	8	11	11	11	0	4	1	2	0	2	1	6	2	5	1	1	3	3	4	1	3	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:3155075C>G	ENST00000400569.3	-	11	1846	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	MYOM1_ENST00000356443.4_Missense_Mutation_p.E505Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.E505Q			P52179	MYOM1_HUMAN	myomesin 1	505						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTTCAATCTCTGCATCAGCA	0.527													26	17					0	0	0	0	G	3155075	C	G	3155075	3	3	382	1	0	0	0	0	1	0	0	0	10161	922	32	2	3656	2	MYOM1	18	3155075	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		3155075	74922173	405	73574											
MC5R	4161	broad.mit.edu	37	chr18	13826560	13826560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaatgctttcttgccctCagaacctctactgctctcgc	6	15	5	15	1	4	1	1	0	3	1	5	1	4	1	2	0	5	2	2	0	3	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:13826560C>A	ENST00000324750.3	+	1	1018	c.796C>A	c.(796-798)Cag>Aag	p.Q266K		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	266					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCTTGCCCTCAGAACCTCTA	0.517													49	88					3.39706e-21	4.36978e-21	1	0	A	13826560	C	A	13826560	3	1	382	1	0	0	0	0	1	0	0	0	9436	827	29	2	798	2	MC5R	18	13826560	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	10671485	13826560	64250688	406	73575											
POTEC	388468	broad.mit.edu	37	chr18	14542999	14542999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcataaaggagtcgtcGtggtctccagaagtgcccat	10	11	10	10	2	3	1	1	0	2	1	6	2	3	2	2	2	1	0	2	2	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:14542999G>A	ENST00000358970.5	-	1	146	c.147C>T	c.(145-147)caC>caT	p.H49H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	49										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTCGTCGTGGTCTCCAG	0.587													68	319					0	0	0	0	A	14542999	G	A	14542999	2	1	382	1	0	0	0	0	0	0	0	1	12334	1136	40	1		1	POTEC	18	14542999	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	716439	14542999	63534249	407	73576											
LAMA3	3909	broad.mit.edu	37	chr18	21399853	21399853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcatcatatgaagtatgaGattgaagacggcagcacacc	14	9	10	8	1	1	4	1	3	0	2	1	5	1	4	1	1	2	4	1	1	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:21399853G>C	ENST00000313654.9	+	19	2437	c.2196G>C	c.(2194-2196)gaG>gaC	p.E732D	LAMA3_ENST00000399516.3_Missense_Mutation_p.E732D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	732					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAAGTATGAGATTGAAGACG	0.413													35	66					0	0	0	0	C	21399853	G	C	21399853	3	2	382	1	0	0	0	0	1	0	0	0	8660	933	33	2	2270	2	LAMA3	18	21399853	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6856854	21399853	56677395	408	73577											
DSC2	1824	broad.mit.edu	37	chr18	28651652	28651652	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaccgccaatccttggatCtacacgatgtgtgcagtcat	9	11	8	13	2	2	0	1	0	1	0	4	2	4	1	4	1	2	1	4	1	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:28651652C>G	ENST00000280904.6	-	13	2487	c.2044G>C	c.(2044-2046)Gat>Cat	p.D682H	DSC2_ENST00000251081.6_Missense_Mutation_p.D682H	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	682	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATCCTTGGATCTACACGATGT	0.438													4	62					0	0	0	0	G	28651652	C	G	28651652	3	3	382	1	0	0	0	0	1	0	0	0	4802	913	32	2	717	2	DSC2	18	28651652	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7251799	28651652	49425596	409	73578											
FHOD3	80206	broad.mit.edu	37	chr18	34081964	34081964	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaagcagatatttcaggTaaataggaaaaaaataagta	20	9	8	4	0	1	2	1	1	0	1	1	3	1	3	1	2	1	3	1	2	10	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:34081964T>A	ENST00000257209.4	+	4	527		c.e4+2		FHOD3_ENST00000590592.1_Splice_Site|FHOD3_ENST00000445677.1_Splice_Site|FHOD3_ENST00000359247.4_Splice_Site	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATATTTCAGGTAAATAGGAAA	0.333													10	30					0	0	0	0	A	34081964	T	A	34081964	5	1	382	1	0	0	0	0	0	0	1	0	5928	1652	57	5	421	5	FHOD3	18	34081964	Splice_Site	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	5430312	34081964	43995284	410	73579											
SYT4	6860	broad.mit.edu	37	chr18	40857225	40857225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttaccaaattcttcccGgctggtggtgatcggagcca	7	12	11	11	2	1	1	0	1	1	0	3	2	2	2	3	4	3	2	3	4	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:40857225G>A	ENST00000255224.3	-	1	390	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.R8W	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	8						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCTTCCCGGCTGGTGGTG	0.478													37	46					0	0	0	0	A	40857225	G	A	40857225	3	1	382	1	0	0	0	0	1	0	0	0	15567	1115	39	1	1271	1	SYT4	18	40857225	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6775261	40857225	37220023	411	73580											
SLC14A2	8170	broad.mit.edu	37	chr18	43216994	43216994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaattccatcttcagcaaGtgggacctcccggtcttcac	8	12	8	13	1	4	1	2	1	2	0	6	2	6	2	3	2	1	1	3	2	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:43216994G>T	ENST00000255226.6	+	6	1506	c.690G>T	c.(688-690)aaG>aaT	p.K230N	SLC14A2_ENST00000586448.1_Missense_Mutation_p.K230N	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	230						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTTCAGCAAGTGGGACCTCC	0.507													120	157					5.16181e-52	7.16032e-52	1	0	T	43216994	G	T	43216994	3	4	382	1	0	0	0	0	1	0	0	0	14485	1020	36	4	708	4	SLC14A2	18	43216994	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2359769	43216994	34860254	412	73581											
SMAD4	4089	broad.mit.edu	37	chr18	48573328	48573328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaacaattttccttgcaacGttagctgttgtttttcactg	8	18	6	9	1	1	0	1	0	0	0	2	0	2	0	1	0	4	5	1	0	4	8			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:48573328G>T	ENST00000590722.2	+	3	300	c.196G>T	c.(196-198)Gtt>Ttt	p.V66F	RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_5'UTR|SMAD4_ENST00000342988.3_5'UTR|SMAD4_ENST00000398417.2_5'UTR																							TCCTTGCAACGTTAGCTGTTG	0.308													6	9					0.0215528	0.0217389	1	0	T	48573328	G	T	48573328	3	4	382	1	0	0	0	0	1	0	0	0	14848	1160	40	3		3	SMAD4	18	48573328	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	5356334	48573328	29503920	413	73582											
ZNF532	55205	broad.mit.edu	37	chr18	56620777	56620777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggaacattgaaaagtattGaagggcctccaaacttgggt	14	10	11	6	0	0	2	0	2	0	0	1	3	1	3	2	3	2	1	2	3	6	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:56620777G>C	ENST00000336078.4	+	8	3672	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	ZNF532_ENST00000589288.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591083.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591808.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591230.1_Missense_Mutation_p.E966Q	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAAAAGTATTGAAGGGCCTCC	0.348													6	67					0	0	0	0	C	56620777	G	C	56620777	3	2	382	1	0	0	0	0	1	0	0	0	18067	1291	45	2	2914	2	ZNF532	18	56620777	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	8047449	56620777	21456471	414	73583											
ZNF555	148254	broad.mit.edu	37	chr19	2853584	2853584	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacataccgcagagaaactCtataaatgcaagcagtgtgg	16	7	10	8	1	1	2	0	0	1	2	1	3	1	2	1	1	4	3	1	1	6	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:2853584C>G	ENST00000334241.4	+	4	1659	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.L506L	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CAGAGAAACTCTATAAATGCA	0.408													26	87					0	0	0	0	G	2853584	C	G	2853584	2	3	382	1	0	0	0	0	0	0	0	1	18081	900	32	2		2	ZNF555	19	2853584	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		2853584	56275399	415	73584											
MATK	4145	broad.mit.edu	37	chr19	3784149	3784149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgagcttggggtctgcgGagagggcctcccgctcccgc	3	7	17	14	3	1	2	0	1	1	1	3	3	3	2	3	5	2	3	3	5	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:3784149G>A	ENST00000310132.6	-	5	733	c.335C>T	c.(334-336)tCc>tTc	p.S112F	MATK_ENST00000395045.2_Missense_Mutation_p.S113F|MATK_ENST00000585778.1_Missense_Mutation_p.S112F|MATK_ENST00000395040.2_Missense_Mutation_p.S71F	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	112					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCTGCGGAGAGGGCCTC	0.687													13	39					0	0	0	0	A	3784149	G	A	3784149	3	1	382	1	0	0	0	0	1	0	0	0	9401	1174	41	2	1228	2	MATK	19	3784149	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	930565	3784149	55344834	416	73585											
PTPRS	5802	broad.mit.edu	37	chr19	5274329	5274329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacacgccgatctggtcctTgggttctttgataaacctgg	7	12	11	11	3	2	1	0	1	2	0	3	3	3	1	3	3	1	1	3	3	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:5274329T>C	ENST00000372412.4	-	3	351	c.118A>G	c.(118-120)Aag>Gag	p.K40E	PTPRS_ENST00000587303.1_Missense_Mutation_p.K40E|PTPRS_ENST00000590509.1_Missense_Mutation_p.K40E|PTPRS_ENST00000357368.4_Missense_Mutation_p.K40E|PTPRS_ENST00000353284.2_Missense_Mutation_p.K40E|PTPRS_ENST00000348075.2_Missense_Mutation_p.K40E|PTPRS_ENST00000592099.1_Missense_Mutation_p.K40E|PTPRS_ENST00000262963.6_Missense_Mutation_p.K40E|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.K40E			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	40	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATCTGGTCCTTGGGTTCTTTG	0.597													12	30					0	0	0	0	C	5274329	T	C	5274329	3	2	382	1	0	0	0	0	1	0	0	0	12893	1821	63	5	5872	5	PTPRS	19	5274329	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	1490180	5274329	53854654	417	73586											
GPR108	56927	broad.mit.edu	37	chr19	6734257	6734257	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggtttggagggtgcttCcgggaggagcccgggaaaga	7	7	18	9	2	0	1	0	0	0	1	1	5	1	5	3	6	2	2	3	6	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:6734257C>A	ENST00000264080.7	-	5	462	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	146						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGGGTGCTTCCGGGAGGAGC	0.657											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	33					7.21436e-19	9.08015e-19	1	0	A	6734257	C	A	6734257	4	1	382	1	0	0	0	0	0	1	0	0	6673	864	30	2	1251	2	GPR108	19	6734257	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1459928	6734257	52394726	418	73587											
SNAPC2	6618	broad.mit.edu	37	chr19	7987009	7987009	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtggaaagcctttgctcctGagcgcccctggaggacagga	8	7	14	12	2	0	1	0	1	0	0	1	5	1	5	4	4	3	1	4	4	1	1	rs75251458		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:7987009G>C	ENST00000221573.6	+	4	513	c.462G>C	c.(460-462)ctG>ctC	p.L154L	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	154					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTTTGCTCCTGAGCGCCCCTG	0.672													14	126					0	0	0	0	C	7987009	G	C	7987009	2	2	382	1	0	0	0	0	0	0	0	1	14923	1277	45	2		2	SNAPC2	19	7987009	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1252752	7987009	51141974	419	73588											
HNRNPM	4670	broad.mit.edu	37	chr19	8531138	8531138	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggattataaagttggctGgaagaaactgaaggaagtat	15	10	13	3	0	0	2	0	1	0	1	0	5	0	5	0	4	1	4	0	4	8	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:8531138G>A	ENST00000348943.3	+	8	765	c.533G>A	c.(532-534)tGg>tAg	p.W178*	HNRNPM_ENST00000325495.4_Nonsense_Mutation_p.W217*	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	217					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAAGTTGGCTGGAAGAAACTG	0.383													6	161					0	0	0	0	A	8531138	G	A	8531138	4	1	382	1	0	0	0	0	0	1	0	0	7321	1357	47	4	676	4	HNRNPM	19	8531138	Nonsense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	544129	8531138	50597845	420	73589											
HNRNPM	4670	broad.mit.edu	37	chr19	8531242	8531242	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaataggcactgttacttttGaacagtccattgaagctgtg	11	13	10	7	0	0	2	0	2	0	0	1	3	1	2	1	1	3	3	1	1	5	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:8531242G>C	ENST00000348943.3	+	8	869	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	HNRNPM_ENST00000325495.4_Missense_Mutation_p.E252Q	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	252	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGTTACTTTTGAACAGTCCAT	0.393													9	144					0	0	0	0	C	8531242	G	C	8531242	3	2	382	1	0	0	0	0	1	0	0	0	7321	1291	45	2	780	2	HNRNPM	19	8531242	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	104	8531242	50597741	421	73590											
OR7D4	125958	broad.mit.edu	37	chr19	9325343	9325343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaggaagaagtacatgggGgtgtggaggtgggagtcaga	12	6	21	2	0	1	3	1	0	0	3	1	7	1	6	0	6	1	1	0	6	3	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:9325343G>A	ENST00000308682.2	-	1	199	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTACATGGGGGTGTGGAGGT	0.557													30	81					0	0	0	0	A	9325343	G	A	9325343	2	1	382	1	0	0	0	0	0	0	0	1	11291	1219	43	4		4	OR7D4	19	9325343	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	794101	9325343	49803640	422	73591											
OLFM2	93145	broad.mit.edu	37	chr19	9965001	9965001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaatactggttgtggaagGgcacgtccgtgtactcgtaa	9	10	15	7	3	0	0	0	0	0	0	2	2	1	2	1	4	2	4	1	4	5	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:9965001G>A	ENST00000264833.4	-	6	1411	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	OLFM2_ENST00000590841.1_Missense_Mutation_p.P331L	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	409	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTTGTGGAAGGGCACGTCCGT	0.562													52	95					0	0	0	0	A	9965001	G	A	9965001	3	1	382	1	0	0	0	0	1	0	0	0	10924	1232	43	4	142	4	OLFM2	19	9965001	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	639658	9965001	49163982	423	73592											
RDH8	50700	broad.mit.edu	37	chr19	10132278	10132278	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaacatccgctactcgccGctgaccacgctcaaaaccgt	11	6	6	18	5	1	1	1	1	0	0	3	1	2	1	5	0	3	3	5	0	4	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:10132278G>A	ENST00000591589.1	+	6	1038	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RDH8_ENST00000171214.1_Silent_p.P263P			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	263					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCTACTCGCCGCTGACCACGC	0.627													29	39					0	0	0	0	A	10132278	G	A	10132278	2	1	382	1	0	0	0	0	0	0	0	1	13278	1074	38	1		1	RDH8	19	10132278	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	167277	10132278	48996705	424	73593											
CACNA1A	773	broad.mit.edu	37	chr19	13565959	13565959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcttgtcatcatcaggcaGatgctgctccagtgcgagga	8	10	13	10	1	4	1	3	0	1	1	5	3	5	2	1	3	3	3	1	3	0	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:13565959G>C	ENST00000360228.5	-	2	360	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L121V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	121					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCATCAGGCAGATGCTGCTCC	0.448													76	142					0	0	0	0	C	13565959	G	C	13565959	3	2	382	1	0	0	0	0	1	0	0	0	2563	933	33	2	7457	2	CACNA1A	19	13565959	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3433681	13565959	45563024	425	73594											
OR1I1	126370	broad.mit.edu	37	chr19	15197928	15197928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcttcctccagggactcTcagaaaagccagagcatcag	13	8	8	12	0	3	2	2	0	2	2	6	3	5	3	3	1	2	1	3	1	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:15197928T>A	ENST00000209540.2	+	1	138	c.52T>A	c.(52-54)Tca>Aca	p.S18T		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCAGGGACTCTCAGAAAAGCC	0.468													21	45					0	0	0	0	A	15197928	T	A	15197928	3	1	382	1	0	0	0	0	1	0	0	0	11029	1551	54	5	54	5	OR1I1	19	15197928	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	1631969	15197928	43931055	426	73595											
CYP4F11	57834	broad.mit.edu	37	chr19	16034646	16034646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcagaagcacatcaatGaagtctaaagtcttggactt	14	10	8	9	0	4	2	2	1	2	1	4	3	4	3	0	1	2	2	0	1	5	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:16034646G>A	ENST00000326742.7	-	6	895	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYP4F11_ENST00000402119.3_Silent_p.F298F|CYP4F11_ENST00000248041.7_Silent_p.F298F			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	298					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCACATCAATGAAGTCTAAAG	0.463													48	116					0	0	0	0	A	16034646	G	A	16034646	2	1	382	1	0	0	0	0	0	0	0	1	4218	1281	45	2		2	CYP4F11	19	16034646	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	836718	16034646	43094337	427	73596											
NWD1	284434	broad.mit.edu	37	chr19	16902219	16902219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatatcctgggagatgcctCtgatccttggatgtgcatgg	7	12	12	10	0	1	2	0	1	1	1	3	4	3	3	4	3	2	1	4	3	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:16902219C>T	ENST00000524140.2	+	14	3417	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	NWD1_ENST00000339803.6_Missense_Mutation_p.S865F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1000F|NWD1_ENST00000523826.1_Missense_Mutation_p.S794F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1000F|NWD1_ENST00000552788.1_Missense_Mutation_p.S1000F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1000							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAGATGCCTCTGATCCTTGG	0.527													6	112					0	0	0	0	T	16902219	C	T	16902219	3	4	382	1	0	0	0	0	1	0	0	0	10852	913	32	2	2632	2	NWD1	19	16902219	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	867573	16902219	42226764	428	73597											
F2RL3	9002	broad.mit.edu	37	chr19	17001291	17001291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgcgtggatcccttcatCtactactacgtgtcggccga	7	11	10	13	4	2	0	1	0	1	0	4	2	3	1	2	2	5	1	2	2	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:17001291C>G	ENST00000248076.3	+	2	1347	c.1017C>G	c.(1015-1017)atC>atG	p.I339M		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	339					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATCCCTTCATCTACTACTACG	0.657													9	24					0	0	0	0	G	17001291	C	G	17001291	3	3	382	1	0	0	0	0	1	0	0	0	5384	903	32	2	1023	2	F2RL3	19	17001291	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	99072	17001291	42127692	429	73598											
IL12RB1	3594	broad.mit.edu	37	chr19	18188356	18188356	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggctgctgggtgtccggtgCcggaactgcacctcagcacc	5	7	15	14	2	1	0	1	0	0	0	2	1	2	1	4	4	5	4	4	4	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18188356C>A	ENST00000600835.1	-	6	822	c.519G>T	c.(517-519)cgG>cgT	p.R173R	IL12RB1_ENST00000430026.2_Silent_p.R173R|IL12RB1_ENST00000593993.1_Silent_p.R173R|IL12RB1_ENST00000322153.6_Silent_p.R173R			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	173	Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTGTCCGGTGCCGGAACTGCA	0.607													13	32					0.00010058	0.00010489	1	0	A	18188356	C	A	18188356	2	1	382	1	0	0	0	0	0	0	0	1	7679	726	26	4		4	IL12RB1	19	18188356	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1187065	18188356	40940627	430	73599											
FKBP8	23770	broad.mit.edu	37	chr19	18652490	18652490	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacctttgctccttaccCagaatgtccagccactcttc	8	12	4	17	0	1	1	0	0	1	1	5	1	4	1	6	0	3	1	6	0	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18652490C>A	ENST00000597960.2	-	2	411	c.292_splice	c.e2+1	p.L97_splice	FKBP8_ENST00000453489.2_Splice_Site_p.L126_splice|FKBP8_ENST00000222308.3_Splice_Site_p.L97_splice|FKBP8_ENST00000596558.1_Splice_Site_p.L97_splice|FKBP8_ENST00000544835.2_Splice_Site_p.L97_splice			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	97					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCTCCTTACCCAGAATGTCCA	0.657													5	36					0.0381472	0.0383442	1	0	A	18652490	C	A	18652490	5	1	382	1	0	0	0	0	0	0	1	0	5959	608	21	4	982	4	FKBP8	19	18652490	Splice_Site	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	464134	18652490	40476493	431	73600											
UPF1	5976	broad.mit.edu	37	chr19	18967087	18967087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaccgggccttgaagcgcaCcgcagagagagagctgctga	10	5	15	11	3	0	4	0	2	0	2	0	6	0	4	3	1	4	5	3	1	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18967087C>T	ENST00000262803.5	+	13	2074	c.1802C>T	c.(1801-1803)aCc>aTc	p.T601I	UPF1_ENST00000599848.1_Missense_Mutation_p.T612I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	612					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTGAAGCGCACCGCAGAGAGA	0.602													19	42					0	0	0	0	T	18967087	C	T	18967087	3	4	382	1	0	0	0	0	1	0	0	0	17099	507	18	4	1852	4	UPF1	19	18967087	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	314597	18967087	40161896	432	73601											
ZNF43	7594	broad.mit.edu	37	chr19	21990410	21990410	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttctcaccagtataattTattttatgtttgaaaaagtt	14	19	4	4	0	1	1	1	1	1	0	2	1	1	1	1	0	0	3	1	0	7	9			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:21990410T>A	ENST00000594012.1	-	7	2925	c.2411A>T	c.(2410-2412)tAa>tTa	p.*804L	ZNF43_ENST00000354959.4_Nonstop_Mutation_p.*810L|ZNF43_ENST00000595461.1_Nonstop_Mutation_p.*804L|ZNF43_ENST00000598381.1_Nonstop_Mutation_p.*804L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAGTATAATTTATTTTATGTT	0.308													12	29					0	0	0	0	A	21990410	T	A	21990410	4	1	382	1	0	0	0	0	0	0	0	0	17998	1761	61	5	4	5	ZNF43	19	21990410	Nonstop_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	3023323	21990410	37138573	433	73602											
ZNF208	7757	broad.mit.edu	37	chr19	22155223	22155223	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactaagggttgagggccaTttataggctttgccacattc	10	13	10	8	0	0	1	0	1	0	0	1	1	0	1	2	3	2	2	2	3	4	8			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373													5	110					0	0	0	0	C	22155223	T	C	22155223	2	2	382	1	0	0	0	0	0	0	0	1	17861	1490	52	5		5	ZNF208	19	22155223	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	164813	22155223	36973760	434	73603											
ZNF676	163223	broad.mit.edu	37	chr19	22362826	22362826	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaagctttgccacattCttcacatttgtagggtttct	9	17	6	9	0	3	0	1	0	2	0	3	0	3	0	1	1	2	3	1	1	3	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22362826C>A	ENST00000397121.2	-	3	2010	c.1693G>T	c.(1693-1695)Gaa>Taa	p.E565*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.378													32	60					8.88839e-20	1.1309e-19	1	0	A	22362826	C	A	22362826	4	1	382	1	0	0	0	0	0	1	0	0	18178	922	32	2	77	2	ZNF676	19	22362826	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	207603	22362826	36766157	435	73604											
ZNF492	57615	broad.mit.edu	37	chr19	22847473	22847473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaattcattctggagaGaaaccctacaagtgtgaaga	17	8	10	6	0	2	4	1	1	1	3	2	7	2	5	1	1	2	0	1	1	6	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22847473G>T	ENST00000456783.2	+	4	1246	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTCTGGAGAGAAACCCTACA	0.373													10	27					5.50884e-06	5.84938e-06	1	0	T	22847473	G	T	22847473	3	4	382	1	0	0	0	0	1	0	0	0	18038	933	33	2	1012	2	ZNF492	19	22847473	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	484647	22847473	36281510	436	73605											
TSHZ3	57616	broad.mit.edu	37	chr19	31769759	31769759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcagggatgattttggCggcgacaggagtgacgggtt	8	9	19	5	3	0	2	0	2	0	0	0	5	0	4	0	6	0	2	0	6	0	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:31769759C>G	ENST00000240587.4	-	2	1267	c.940G>C	c.(940-942)Gcc>Ccc	p.A314P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	314					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A314T(1)|p.A131T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGATTTTGGCGGCGACAGGA	0.537													38	68					0	0	0	0	G	31769759	C	G	31769759	3	3	382	1	0	0	0	0	1	0	0	0	16720	768	27	3	2309	3	TSHZ3	19	31769759	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	8922286	31769759	27359224	437	73606											
LRFN3	79414	broad.mit.edu	37	chr19	36431274	36431274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcggccggctgccctgcGctgccgggcagtgggggacc	3	5	19	14	4	0	0	0	0	0	0	1	1	0	1	4	6	3	3	4	6	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:36431274G>A	ENST00000588831.1	+	3	2001	c.947G>A	c.(946-948)cGc>cAc	p.R316H	LRFN3_ENST00000246529.3_Missense_Mutation_p.R316H			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	316	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGCCCTGCGCTGCCGGGCA	0.716													3	11					0	0	0	0	A	36431274	G	A	36431274	3	1	382	1	0	0	0	0	1	0	0	0	9003	1087	38	1	949	1	LRFN3	19	36431274	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4661515	36431274	22697709	438	73607											
ZNF527	84503	broad.mit.edu	37	chr19	37870093	37870093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatggctgaagccatctcaGaaggatttatacagagatgt	14	10	11	6	0	1	3	1	1	1	2	2	6	1	4	1	2	2	1	1	2	5	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:37870093G>C	ENST00000436120.2	+	3	212	c.105G>C	c.(103-105)caG>caC	p.Q35H	ZNF527_ENST00000587349.1_Missense_Mutation_p.Q35H|ZNF527_ENST00000483919.1_Missense_Mutation_p.Q35H|ZNF527_ENST00000589615.1_3'UTR	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCATCTCAGAAGGATTTAT	0.433													45	105					0	0	0	0	C	37870093	G	C	37870093	3	2	382	1	0	0	0	0	1	0	0	0	18063	933	33	2	111	2	ZNF527	19	37870093	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1438819	37870093	21258890	439	73608											
FCGBP	8857	broad.mit.edu	37	chr19	40368603	40368603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacagtgggtcccagcctgGggctcgccagctgccgcccc	5	5	13	18	2	0	0	0	0	0	0	2	0	1	0	6	3	3	2	6	3	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:40368603G>A	ENST00000221347.6	-	28	12752	c.12745C>T	c.(12745-12747)Cca>Tca	p.P4249S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4249	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCCAGCCTGGGGCTCGCCAG	0.647													5	106					0	0	0	0	A	40368603	G	A	40368603	3	1	382	1	0	0	0	0	1	0	0	0	5823	1232	43	4	3508	4	FCGBP	19	40368603	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2498510	40368603	18760380	440	73609											
ZNF546	339327	broad.mit.edu	37	chr19	40521432	40521434	+	In_Frame_Del	DEL	AAG	AAG	-																															tgagaaaccttatagctgtaAagaatgtgggaatgcctttc																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:40521432_40521434delAAG	ENST00000347077.4	+	7	2471_2473	c.2255_2257delAAG	c.(2254-2259)aaa>a	p.KE752del	ZNF546_ENST00000600094.1_In_Frame_Del_p.KE726del|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATAGCTGTAAAGAATGTGGGAA	0.394													25	84	---	---	---	---					-	40521434	AAG	-	40521432	7	5	382	1	0	1	0	1	0	0	0	0	18073	14	1	0	2273	0	ZNF546	19	40521432	In_Frame_Del	DEL	AAG	TCGA-D6-A74Q-01A-11D-A34J-08	152829	40521432	18607551	441	73610											
ZNF235	9310	broad.mit.edu	37	chr19	44792214	44792214	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcatcacatttgtaTggtttttcttcagtgtggac	8	16	7	10	0	4	0	3	0	1	0	4	1	4	1	1	2	0	2	1	2	1	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:44792214T>A	ENST00000291182.4	-	5	1476	c.1374A>T	c.(1372-1374)ccA>ccT	p.P458P	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACATTTGTATGGTTTTTCTT	0.383													42	120					0	0	0	0	A	44792214	T	A	44792214	2	1	382	1	0	0	0	0	0	0	0	1	17883	1451	51	5		5	ZNF235	19	44792214	Silent	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	4270782	44792214	14336769	442	73611											
EML2	24139	broad.mit.edu	37	chr19	46124584	46124584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgcacagggccaaagtcctCagggacctgggtggacagat	10	5	15	11	1	1	1	1	0	0	1	2	3	2	3	3	4	0	1	3	4	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:46124584C>G	ENST00000536630.1	-	14	1582	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	EML2_ENST00000589876.1_Missense_Mutation_p.E335Q|EML2_ENST00000587152.1_Missense_Mutation_p.E536Q|EML2_ENST00000245925.3_Missense_Mutation_p.E335Q	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	335					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCAAAGTCCTCAGGGACCTGG	0.632													5	87					0	0	0	0	G	46124584	C	G	46124584	3	3	382	1	0	0	0	0	1	0	0	0	5135	835	29	2	982	2	EML2	19	46124584	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	1332370	46124584	13004399	443	73612											
PTGIR	5739	broad.mit.edu	37	chr19	47127217	47127217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaaggcatcgcacagggcgGggccgcctcgggccaggccc	6	2	17	16	5	0	0	0	0	0	0	2	1	0	0	4	6	0	2	4	6	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47127217G>A	ENST00000291294.2	-	2	399	c.266C>T	c.(265-267)cCc>cTc	p.P89L	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.P89L|PTGIR_ENST00000597185.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	89					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCACAGGGCGGGGCCGCCTCG	0.701													5	9					0	0	0	0	A	47127217	G	A	47127217	3	1	382	1	0	0	0	0	1	0	0	0	12831	1232	43	4	902	4	PTGIR	19	47127217	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1002633	47127217	12001766	444	73613											
ZC3H4	23211	broad.mit.edu	37	chr19	47589732	47589732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcggctgcccctgcccatgCcgcggcctcgcgatcctcca	3	7	10	21	5	0	0	0	0	0	0	4	1	2	0	7	2	3	1	7	2	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47589732C>A	ENST00000253048.5	-	6	816	c.779G>T	c.(778-780)gGc>gTc	p.G260V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	260	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTGCCCATGCCGCGGCCTCG	0.647													24	36					7.87624e-14	9.3872e-14	1	0	A	47589732	C	A	47589732	3	1	382	1	0	0	0	0	1	0	0	0	17665	739	26	4	3172	4	ZC3H4	19	47589732	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	462515	47589732	11539251	445	73614											
CCDC9	26093	broad.mit.edu	37	chr19	47761887	47761887	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaggatcgaggctcttcgGcggaagaatgaggccctcat	11	7	14	9	3	2	3	1	1	1	2	4	6	2	5	1	5	0	1	1	5	3	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47761887G>T	ENST00000221922.6	+	3	297	c.75G>T	c.(73-75)cgG>cgT	p.R25R		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	25										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCTCTTCGGCGGAAGAATG	0.592													31	73					3.11337e-16	3.82781e-16	1	0	T	47761887	G	T	47761887	2	4	382	1	0	0	0	0	0	0	0	1	2894	1190	42	4		4	CCDC9	19	47761887	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	172155	47761887	11367096	446	73615											
SLC8A2	6543	broad.mit.edu	37	chr19	47951484	47951484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtttgaacaccagcgtgcCctcgctgcggcggggtgggg	4	8	18	11	4	0	1	0	1	0	0	1	1	0	1	2	6	4	2	2	6	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47951484C>A	ENST00000236877.6	-	4	1740	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Missense_Mutation_p.G205C	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	449	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCAGCGTGCCCTCGCTGCGG	0.642													9	42					9.70103e-10	1.09795e-09	1	0	A	47951484	C	A	47951484	3	1	382	1	0	0	0	0	1	0	0	0	14795	623	22	4	1448	4	SLC8A2	19	47951484	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	189597	47951484	11177499	447	73616											
CA11	770	broad.mit.edu	37	chr19	49142821	49142821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttactcttgtaggagatgcGagtgatggtgtcgcggttaa	8	13	14	6	3	1	2	0	1	1	1	2	4	1	2	0	3	2	2	0	3	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:49142821G>C	ENST00000084798.4	-	6	1304	c.625C>G	c.(625-627)Cgc>Ggc	p.R209G	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	209						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TAGGAGATGCGAGTGATGGTG	0.577													9	33					0	0	0	0	C	49142821	G	C	49142821	3	2	382	1	0	0	0	0	1	0	0	0	2537	1058	37	3	377	3	CA11	19	49142821	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1191337	49142821	9986162	448	73617											
LRRC4B	94030	broad.mit.edu	37	chr19	51021474	51021474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgcagggcctcctctccgGgctgcgtctccagggtctcc	2	9	13	17	2	3	0	0	0	3	0	7	0	4	0	5	3	2	3	5	3	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:51021474G>T	ENST00000599957.1	-	3	1693	c.1496C>A	c.(1495-1497)cCc>cAc	p.P499H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P499H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	499	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCTCTCCGGGCTGCGTCTC	0.746													3	14					0.115264	0.11566	1	0	T	51021474	G	T	51021474	3	4	382	1	0	0	0	0	1	0	0	0	9071	1232	43	4	649	4	LRRC4B	19	51021474	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1878653	51021474	8107509	449	73618											
SIGLEC6	946	broad.mit.edu	37	chr19	52034669	52034669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaccatagtacgaggctgGaagggtagtgggcaatctgc	12	8	14	7	1	1	0	0	0	1	0	1	2	1	1	1	4	3	4	1	4	6	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:52034669G>T	ENST00000346477.3	-	2	240	c.172C>A	c.(172-174)Cca>Aca	p.P58T	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P58T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P58T|SIGLEC6_ENST00000436458.1_Intron	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	58	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TACGAGGCTGGAAGGGTAGTG	0.607													16	41					7.07596e-05	7.39242e-05	1	0	T	52034669	G	T	52034669	3	4	382	1	0	0	0	0	1	0	0	0	14400	1174	41	2	1250	2	SIGLEC6	19	52034669	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1013195	52034669	7094314	450	73619											
ZNF880	400713	broad.mit.edu	37	chr19	52887621	52887621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgacatcagagaatacataCtggagagaaaccttacaaat	19	7	7	8	1	1	2	1	0	0	2	1	6	1	3	1	1	4	0	1	1	6	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:52887621C>T	ENST00000422689.2	+	4	803	c.788C>T	c.(787-789)aCt>aTt	p.T263I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	263					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGAATACATACTGGAGAGAAA	0.408													11	39					0	0	0	0	T	52887621	C	T	52887621	3	4	382	1	0	0	0	0	1	0	0	0	18290	565	20	4	802	4	ZNF880	19	52887621	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	852952	52887621	6241362	451	73620											
LILRA4	23547	broad.mit.edu	37	chr19	54848374	54848374	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcctgaggtcaccgtgggGcccggctgcactgagaggga	6	7	16	12	2	2	2	1	2	1	1	3	4	2	3	3	5	1	2	3	5	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:54848374G>T	ENST00000291759.4	-	6	1049	c.993C>A	c.(991-993)ggC>ggA	p.G331G	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	331	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCACCGTGGGGCCCGGCTGCA	0.617													17	48					1.02788e-11	1.19104e-11	1	0	T	54848374	G	T	54848374	2	4	382	1	0	0	0	0	0	0	0	1	8841	1190	42	4		4	LILRA4	19	54848374	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	1960753	54848374	4280609	452	73621											
LILRB1	10859	broad.mit.edu	37	chr19	55143681	55143681	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgatctcctggagctcctGgtcctaggtgagaaattcac	9	11	11	10	0	2	2	1	2	1	1	5	4	4	3	3	3	1	1	3	3	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:55143681G>C	ENST00000396331.1	+	6	1011	c.654G>C	c.(652-654)ctG>ctC	p.L218L	LILRB1_ENST00000396317.1_Silent_p.L218L|LILRB1_ENST00000324602.7_Silent_p.L218L|LILRB1_ENST00000396332.4_Silent_p.L218L|LILRB1_ENST00000396327.3_Silent_p.L218L|LILRB1_ENST00000396321.2_Silent_p.L218L|LILRB1_ENST00000418536.2_Silent_p.L218L|LILRB1_ENST00000448689.1_Silent_p.L218L|LILRB1_ENST00000396315.1_Silent_p.L218L|LILRB1_ENST00000427581.2_Silent_p.L254L|LILRB1_ENST00000434867.2_Silent_p.L218L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	218	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGAGCTCCTGGTCCTAGGTG	0.582										HNSCC(37;0.09)			45	100					0	0	0	0	C	55143681	G	C	55143681	2	2	382	1	0	0	0	0	0	0	0	1	8844	1335	47	4		4	LILRB1	19	55143681	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	295307	55143681	3985302	453	73622											
NLRP7	199713	broad.mit.edu	37	chr19	55451373	55451373	+	Frame_Shift_Del	DEL	C	C	-																															cggcttcttcttctcccagtCcccgcagatgtcctggatca																										TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:55451373delC	ENST00000588756.1	-	6	1300	c.814delG	c.(814-816)acfs	p.D272fs	NLRP7_ENST00000448121.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000590030.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.D300fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	272	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTCCCAGTCCCCGCAGATG	0.607													30	71	---	---	---	---					-	55451373	C	-	55451373	7	5	382	1	0	1	0	1	0	0	0	0	10552	855	30	0	2331	0	NLRP7	19	55451373	Frame_Shift_Del	DEL	C	TCGA-D6-A74Q-01A-11D-A34J-08	307692	55451373	3677610	454	73623											
ZIM3	114026	broad.mit.edu	37	chr19	57646877	57646877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattacactgataggatttCttggcattatgaattttctc	10	18	6	7	0	3	2	1	2	2	0	4	3	3	3	0	2	1	1	0	2	4	7			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:57646877C>T	ENST00000269834.1	-	5	1213	c.828G>A	c.(826-828)aaG>aaA	p.K276K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGGATTTCTTGGCATTAT	0.358													52	114					0	0	0	0	T	57646877	C	T	57646877	2	4	382	1	0	0	0	0	0	0	0	1	17780	912	32	2		2	ZIM3	19	57646877	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2195504	57646877	1482106	455	73624											
AURKC	6795	broad.mit.edu	37	chr19	57746378	57746378	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctggtgggatatccAccctttgagagcgcctccca	7	9	12	13	1	0	1	0	1	0	1	2	4	2	2	4	2	3	2	4	2	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:57746378A>G	ENST00000302804.7	+	6	897	c.711A>G	c.(709-711)ccA>ccG	p.P237P	AURKC_ENST00000415300.2_Silent_p.P218P|AURKC_ENST00000599062.1_Silent_p.P234P|AURKC_ENST00000598785.1_Silent_p.P203P|AURKC_ENST00000448930.1_Silent_p.P203P	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	237	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGGGATATCCACCCTTTGAGA	0.527													19	46					0	0	0	0	G	57746378	A	G	57746378	2	3	382	1	0	0	0	0	0	0	0	1	1228	146	6	5		5	AURKC	19	57746378	Silent	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	99501	57746378	1382605	456	73625											
ZNF419	79744	broad.mit.edu	37	chr19	58005263	58005263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccctcatgcaacatcgAaaagttcacattggagaaaa	17	8	6	10	1	3	1	3	0	0	1	4	3	3	1	1	1	3	2	1	1	6	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:58005263A>G	ENST00000424930.2	+	5	1570	c.1341A>G	c.(1339-1341)cgA>cgG	p.R447R	ZNF419_ENST00000221735.7_Silent_p.R446R|ZNF419_ENST00000415379.2_Silent_p.R400R|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000442920.2_Silent_p.R433R|ZNF419_ENST00000426954.2_Silent_p.R434R|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Silent_p.R414R	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGCAACATCGAAAAGTTCACA	0.433													4	190					0	0	0	0	G	58005263	A	G	58005263	2	3	382	1	0	0	0	0	0	0	0	1	17991	233	9	5		5	ZNF419	19	58005263	Silent	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	258885	58005263	1123720	457	73626											
ZNF497	162968	broad.mit.edu	37	chr19	58868868	58868868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccctcggaacctccGtggagttttcccaggccccc	4	9	9	19	2	0	0	0	0	0	0	4	2	3	2	7	3	2	1	7	3	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:58868868G>T	ENST00000311044.3	-	3	322	c.134C>A	c.(133-135)aCg>aAg	p.T45K	ZNF497_ENST00000425453.3_Missense_Mutation_p.T45K|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGGAACCTCCGTGGAGTTTTC	0.706													9	24					3.86212e-05	4.04933e-05	1	0	T	58868868	G	T	58868868	3	4	382	1	0	0	0	0	1	0	0	0	18041	1145	40	3	1366	3	ZNF497	19	58868868	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	863605	58868868	260115	458	73627											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686664	3686664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctccaccggggaggCaatggtgggcaccctgggct	8	5	17	11	1	0	1	0	0	0	1	1	3	1	2	3	6	1	4	3	6	2	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:3686664C>T	ENST00000344754.4	-	3	432	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A145T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	145	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCGGGGAGGCAATGGTGGGC	0.627													14	42					0	0	0	0	T	3686664	C	T	3686664	3	4	382	1	0	0	0	0	1	0	0	0	14393	710	25	4	4772	4	SIGLEC1	20	3686664	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		3686664	59338856	459	73628											
LRRN4	164312	broad.mit.edu	37	chr20	6032851	6032851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtgaccaggggcgcgccatCctctccagcgaacgccgcct	6	5	12	18	6	1	1	0	1	1	0	3	2	2	1	6	2	2	0	6	2	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:6032851C>G	ENST00000378858.4	-	2	819	c.595G>C	c.(595-597)Gat>Cat	p.D199H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	199						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGCGCGCCATCCTCTCCAGCG	0.711													3	7					0	0	0	0	G	6032851	C	G	6032851	3	3	382	1	0	0	0	0	1	0	0	0	9101	855	30	2	1643	2	LRRN4	20	6032851	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2346187	6032851	56992669	460	73629											
PCSK2	5126	broad.mit.edu	37	chr20	17446187	17446187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtgggaggctccgtGcaggaccctgagtaagtggg	7	8	17	9	1	0	1	0	1	0	0	1	3	1	3	2	4	1	3	2	4	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:17446187G>A	ENST00000262545.2	+	11	1734	c.1419G>A	c.(1417-1419)gtG>gtA	p.V473V	PCSK2_ENST00000377899.1_Silent_p.V454V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Silent_p.V438V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	473					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGGCTCCGTGCAGGACCCTG	0.542													6	27					0	0	0	0	A	17446187	G	A	17446187	2	1	382	1	0	0	0	0	0	0	0	1	11672	1306	46	4		4	PCSK2	20	17446187	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	11413336	17446187	45579333	461	73630											
CSRP2BP	57325	broad.mit.edu	37	chr20	18163851	18163851	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcgaccctcactggacGccggagcccgacgcacctct	8	4	12	17	5	2	0	1	0	1	0	2	5	2	3	4	3	2	1	4	3	0	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:18163851G>T	ENST00000278816.2	+	9	2543	c.1893G>T	c.(1891-1893)acG>acT	p.T631T	CSRP2BP_ENST00000435364.2_Silent_p.T631T|CSRP2BP_ENST00000377681.2_Silent_p.T630T|CSRP2BP_ENST00000489634.2_Silent_p.T503T			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	631					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTCACTGGACGCCGGAGCCCG	0.537													38	69					2.05212e-20	2.62815e-20	1	0	T	18163851	G	T	18163851	2	4	382	1	0	0	0	0	0	0	0	1	4000	1074	38	3		3	CSRP2BP	20	18163851	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	717664	18163851	44861669	462	73631											
POLR3F	10621	broad.mit.edu	37	chr20	18460705	18460705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaaaagaaggtgtatatGctctataacctgcagccaga	16	9	8	8	0	2	2	1	0	1	2	2	2	2	2	2	1	4	3	2	1	8	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:18460705G>T	ENST00000377603.4	+	6	833	c.453G>T	c.(451-453)atG>atT	p.M151I	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	151					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						AGGTGTATATGCTCTATAACC	0.398													31	76					2.20474e-14	2.64931e-14	1	0	T	18460705	G	T	18460705	3	4	382	1	0	0	0	0	1	0	0	0	12305	1319	46	4	475	4	POLR3F	20	18460705	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	296854	18460705	44564815	463	73632											
PAX1	5075	broad.mit.edu	37	chr20	21689200	21689200	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctctctcctgcaggggcCctggctgggagcgaaggcac	5	7	14	15	1	2	0	0	0	2	0	4	2	2	1	3	5	2	3	3	5	1	0			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:21689200C>G	ENST00000398485.2	+	3	975	c.921C>G	c.(919-921)gcC>gcG	p.A307A	PAX1_ENST00000444366.2_Silent_p.A283A|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	307					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTGCAGGGGCCCTGGCTGGGA	0.627													38	104					0	0	0	0	G	21689200	C	G	21689200	2	3	382	1	0	0	0	0	0	0	0	1	11549	610	22	4		4	PAX1	20	21689200	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	3228495	21689200	41336320	464	73633											
AHCY	191	broad.mit.edu	37	chr20	32880204	32880204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtgtggatgaggttggtGaggtcgcccccgtcgtccag	4	11	17	9	3	0	2	0	2	0	0	3	3	1	3	3	5	0	1	3	5	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:32880204G>A	ENST00000538132.1	-	4	707	c.321C>T	c.(319-321)ctC>ctT	p.L107L	AHCY_ENST00000217426.2_Silent_p.L135L|AHCY_ENST00000468908.1_5'UTR	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	135					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGTTGGTGAGGTCGCCCC	0.637													6	42					0	0	0	0	A	32880204	G	A	32880204	2	1	382	1	0	0	0	0	0	0	0	1	409	1277	45	2		2	AHCY	20	32880204	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	11191004	32880204	30145316	465	73634											
EDEM2	55741	broad.mit.edu	37	chr20	33711699	33711699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatgctgctcacctggccGaagtgggtagccctctcgct	7	9	12	13	2	2	0	1	0	1	0	3	2	2	0	3	2	3	4	3	2	3	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:33711699G>A	ENST00000540582.1	-	13	1706	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	EDEM2_ENST00000374491.2_Missense_Mutation_p.R333W|EDEM2_ENST00000542871.1_Missense_Mutation_p.R94W|EDEM2_ENST00000541621.1_Missense_Mutation_p.R149W|EDEM2_ENST00000374492.3_Missense_Mutation_p.R370W			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	370					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCACCTGGCCGAAGTGGGTAG	0.547													17	53					0	0	0	0	A	33711699	G	A	33711699	3	1	382	1	0	0	0	0	1	0	0	0	4948	1057	37	1	640	1	EDEM2	20	33711699	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	831495	33711699	29313821	466	73635											
RPN2	6185	broad.mit.edu	37	chr20	35827457	35827457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaattctttcttagatctCtatttcaaatgagaccaaag	13	14	5	9	0	4	2	1	1	3	2	5	3	4	2	2	0	0	0	2	0	5	5			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:35827457C>G	ENST00000237530.6	+	4	619	c.308C>G	c.(307-309)tCt>tGt	p.S103C	RPN2_ENST00000373622.5_Missense_Mutation_p.S71C	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	103					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.S103C(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCTTAGATCTCTATTTCAAAT	0.468													4	84					0	0	0	0	G	35827457	C	G	35827457	3	3	382	1	0	0	0	0	1	0	0	0	13693	913	32	2	322	2	RPN2	20	35827457	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2115758	35827457	27198063	467	73636											
YWHAB	7529	broad.mit.edu	37	chr20	43533728	43533728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttctcagtcttttactatGagattctaaactctcctgaa	11	17	4	9	0	4	2	1	2	4	1	6	3	4	2	1	0	2	0	1	0	5	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:43533728G>C	ENST00000372839.3	+	5	818	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	YWHAB_ENST00000353703.4_Missense_Mutation_p.E182Q|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	182					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTTTTACTATGAGATTCTAAA	0.403													4	88					0	0	0	0	C	43533728	G	C	43533728	3	2	382	1	0	0	0	0	1	0	0	0	17597	1291	45	2	554	2	YWHAB	20	43533728	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	7706271	43533728	19491792	468	73637											
DDX27	55661	broad.mit.edu	37	chr20	47858649	47858649	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtctcagtttgaaatcctCaaggcgcagatgtttgctga	10	12	11	8	1	2	3	2	2	1	1	4	3	3	3	1	2	1	4	1	2	2	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:47858649C>G	ENST00000371764.4	+	18	2124	c.2115C>G	c.(2113-2115)ctC>ctG	p.L705L	ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	705						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			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)			TTGAAATCCTCAAGGCGCAGA	0.607													7	144					0	0	0	0	G	47858649	C	G	47858649	2	3	382	1	0	0	0	0	0	0	0	1	4386	813	29	2		2	DDX27	20	47858649	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	4324921	47858649	15166871	469	73638											
TPTE	7179	broad.mit.edu	37	chr21	10941928	10941928	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgattggatttctatagaAagactgccttccagaagatg	12	13	9	7	0	1	5	0	1	1	4	2	6	2	6	2	1	1	0	2	1	4	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:10941928A>C	ENST00000298232.7	-	13	1088	c.721T>G	c.(721-723)Ttc>Gtc	p.F241V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F221V|TPTE_ENST00000361285.4_Missense_Mutation_p.F259V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	259	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCTATAGAAAGACTGCCTT	0.313													48	398					0	0	0	0	C	10941928	A	C	10941928	3	2	382	1	0	0	0	0	1	0	0	0	16525	14	1	5	924	5	TPTE	21	10941928	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08		10941928	37187967	470	73639											
POTED	317754	broad.mit.edu	37	chr21	15011857	15011857	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgaacaaaatgatacccgGaaacaactttctgaagaaca	19	7	7	8	1	1	4	0	3	1	1	1	6	1	5	1	1	5	0	1	1	8	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:15011857G>T	ENST00000299443.5	+	10	1483	c.1431G>T	c.(1429-1431)cgG>cgT	p.R477R		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	477						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ATGATACCCGGAAACAACTTT	0.363													5	88					0.014758	0.014937	1	0	T	15011857	G	T	15011857	2	4	382	1	0	0	0	0	0	0	0	1	12335	1161	41	2		2	POTED	21	15011857	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	4069929	15011857	33118038	471	73640											
NRIP1	8204	broad.mit.edu	37	chr21	16339781	16339781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcccttttttccaccatgcTtgcaacagcctgtaatcttg	8	14	6	13	0	1	0	0	0	1	0	2	0	2	0	4	0	5	3	4	0	2	6			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:16339781T>C	ENST00000400202.1	-	3	1445	c.733A>G	c.(733-735)Agc>Ggc	p.S245G	NRIP1_ENST00000318948.4_Missense_Mutation_p.S245G|NRIP1_ENST00000400199.1_Missense_Mutation_p.S245G			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	245	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCCACCATGCTTGCAACAGCC	0.473													75	195					0	0	0	0	C	16339781	T	C	16339781	3	2	382	1	0	0	0	0	1	0	0	0	10723	1609	56	5	2747	5	NRIP1	21	16339781	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	1327924	16339781	31790114	472	73641											
NRIP1	8204	broad.mit.edu	37	chr21	16340481	16340481	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacaatagaatcctggtgCacatcagagccaagctcttc	15	8	7	11	0	2	2	1	0	1	2	4	2	3	2	2	1	4	2	2	1	6	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:16340481C>T	ENST00000400202.1	-	3	745	c.33G>A	c.(31-33)gtG>gtA	p.V11V	NRIP1_ENST00000318948.4_Silent_p.V11V|NRIP1_ENST00000400199.1_Silent_p.V11V			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	11					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AATCCTGGTGCACATCAGAGC	0.433													22	58					0	0	0	0	T	16340481	C	T	16340481	2	4	382	1	0	0	0	0	0	0	0	1	10723	697	25	4		4	NRIP1	21	16340481	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	700	16340481	31789414	473	73642											
NCAM2	4685	broad.mit.edu	37	chr21	22804471	22804471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagatcatagagctgtcGcagaccacggccaaggtttc	11	8	12	10	2	1	4	1	1	0	3	3	4	1	4	2	2	1	3	2	2	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:22804471G>A	ENST00000400546.1	+	12	1773	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	NCAM2_ENST00000284894.7_Silent_p.S366S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	508	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAGAGCTGTCGCAGACCACGG	0.448													23	37					0	0	0	0	A	22804471	G	A	22804471	2	1	382	1	0	0	0	0	0	0	0	1	10273	1074	38	1		1	NCAM2	21	22804471	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	6463990	22804471	25325424	474	73643											
SYNJ1	8867	broad.mit.edu	37	chr21	34060668	34060668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacatacggacacgatGagatcccaccttagacaaga	14	7	8	12	2	0	4	0	2	0	3	1	7	1	5	3	1	1	0	3	1	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:34060668G>T	ENST00000382499.2	-	7	915	c.916C>A	c.(916-918)Cat>Aat	p.H306N	SYNJ1_ENST00000382491.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.H267N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.H306N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	267	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGGACACGATGAGATCCCACC	0.343													4	52					0.00909568	0.00923805	1	0	T	34060668	G	T	34060668	3	4	382	1	0	0	0	0	1	0	0	0	15543	1290	45	2	4060	2	SYNJ1	21	34060668	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	11256197	34060668	14069227	475	73644											
CCT8L2	150160	broad.mit.edu	37	chr22	17072850	17072850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacacgctcaggcttgaaGctgccgtctagttccttgat	8	11	9	13	2	2	2	1	2	1	0	3	2	3	2	3	1	3	4	3	1	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:17072850G>A	ENST00000359963.3	-	1	850	c.591C>T	c.(589-591)agC>agT	p.S197S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	197					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGCTTGAAGCTGCCGTCTA	0.617													42	67					0	0	0	0	A	17072850	G	A	17072850	2	1	382	1	0	0	0	0	0	0	0	1	2990	962	34	4		4	CCT8L2	22	17072850	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08		17072850	34231716	476	73645											
MAPK1	5594	broad.mit.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	10	11	9	11	3	2	1	1	1	1	0	5	2	2	2	1	2	4	2	1	2	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478													4	71					0	0	0	0	T	22127164	C	T	22127164	3	4	382	1	0	0	0	0	1	0	0	0	9340	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5054314	22127164	29177402	477	73646											
LRP5L	91355	broad.mit.edu	37	chr22	25753225	25753225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccatgggagcctcacctcGatcttgtctgtcttggcatc	5	13	9	14	1	4	0	1	0	3	0	7	2	5	1	3	2	1	1	3	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:25753225G>A	ENST00000444995.3	-	5	1135	c.435C>T	c.(433-435)atC>atT	p.I145I	LRP5L_ENST00000402859.2_Silent_p.I145I|LRP5L_ENST00000402785.2_Silent_p.I145I			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	145										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCCTCACCTCGATCTTGTCTG	0.657													26	39					0	0	0	0	A	25753225	G	A	25753225	2	1	382	1	0	0	0	0	0	0	0	1	9025	1048	37	1		1	LRP5L	22	25753225	Silent	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3626061	25753225	25551341	478	73647											
HSCB	150274	broad.mit.edu	37	chr22	29153084	29153084	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgactttgaagaagccaAggaaattttgacaaagatga	18	9	10	4	0	0	7	0	4	0	3	0	8	0	8	1	1	1	0	1	1	5	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:29153084A>C	ENST00000216027.3	+	6	700	c.635A>C	c.(634-636)aAg>aCg	p.K212T	HSCB_ENST00000398941.2_3'UTR|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	212					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						GAAGAAGCCAAGGAAATTTTG	0.323													82	167					0	0	0	0	C	29153084	A	C	29153084	3	2	382	1	0	0	0	0	1	0	0	0	7424	72	3	5	657	5	HSCB	22	29153084	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	3399859	29153084	22151482	479	73648											
OSBP2	23762	broad.mit.edu	37	chr22	31266543	31266543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcatcgccaagcacggCgctgcactccagcgctccct	7	6	9	19	4	1	0	1	0	0	0	4	1	3	0	4	1	3	4	4	1	1	0	rs34660027		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:31266543C>T	ENST00000332585.6	+	3	1085	c.981C>T	c.(979-981)ggC>ggT	p.G327G	OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Silent_p.G327G|OSBP2_ENST00000407373.1_Silent_p.G154G|OSBP2_ENST00000437268.2_Silent_p.G69G|OSBP2_ENST00000403222.3_Silent_p.G162G|OSBP2_ENST00000446658.2_Silent_p.G327G	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	327					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCAAGCACGGCGCTGCACTCC	0.597													15	36					0	0	0	0	T	31266543	C	T	31266543	2	4	382	1	0	0	0	0	0	0	0	1	11345	755	27	1		1	OSBP2	22	31266543	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2113459	31266543	20038023	480	73649											
GTPBP1	9567	broad.mit.edu	37	chr22	39123305	39123305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagtttgaggccgagattCtcgtcctccaccaccccacc	7	8	10	16	2	1	2	0	1	1	1	4	4	3	3	7	2	0	1	7	2	0	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:39123305C>G	ENST00000216044.5	+	9	1722	c.1489C>G	c.(1489-1491)Ctc>Gtc	p.L497V		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	497					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCCGAGATTCTCGTCCTCCA	0.597													4	73					0	0	0	0	G	39123305	C	G	39123305	3	3	382	1	0	0	0	0	1	0	0	0	6928	913	32	2	1523	2	GTPBP1	22	39123305	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7856762	39123305	12181261	481	73650											
PPARA	5465	broad.mit.edu	37	chr22	46594409	46594409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcgcaatccatcggcgaGgatagttctggaagctttgg	9	12	12	8	3	1	0	0	0	1	0	4	3	2	2	1	4	1	3	1	4	3	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:46594409G>T	ENST00000396000.2	+	3	394	c.129G>T	c.(127-129)gaG>gaT	p.E43D	PPARA_ENST00000407236.1_Missense_Mutation_p.E43D|PPARA_ENST00000262735.5_Missense_Mutation_p.E43D|PPARA_ENST00000402126.1_Missense_Mutation_p.E43D|PPARA_ENST00000434345.2_Missense_Mutation_p.E43D			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	43					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCATCGGCGAGGATAGTTCTG	0.517													39	106					1.59361e-14	1.9189e-14	1	0	T	46594409	G	T	46594409	3	4	382	1	0	0	0	0	1	0	0	0	12368	991	35	4	131	4	PPARA	22	46594409	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	7471104	46594409	4710157	482	73651											
CXorf27	25763	broad.mit.edu	37	chrX	37850191	37850191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccctaggagcttcgtggaCcgcgttgtgcaagatgaacg	8	9	14	10	4	0	2	0	1	0	1	2	4	1	4	2	2	3	3	2	2	3	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:37850191C>A	ENST00000341016.3	+	1	122	c.99C>A	c.(97-99)gaC>gaA	p.D33E	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	33							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						GCTTCGTGGACCGCGTTGTGC	0.468													16	9					1.15088e-07	1.25394e-07	1	0	A	37850191	C	A	37850191	3	1	382	1	0	0	0	0	1	0	0	0	4137	506	18	4	101	4	CXorf27	23	37850191	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08		37850191	117420369	483	73652											
BCOR	54880	broad.mit.edu	37	chrX	39921470	39921470	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtctccgtgcttccggCggcatagggcgagactgggt	7	9	15	10	4	1	1	0	0	1	1	3	2	2	1	2	4	1	2	2	4	2	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:39921470C>A	ENST00000342274.4	-	10	4610	c.4248G>T	c.(4246-4248)ccG>ccT	p.P1416P	BCOR_ENST00000378455.4_Silent_p.P1398P|BCOR_ENST00000397354.3_Silent_p.P1416P|BCOR_ENST00000378444.4_Silent_p.P1450P|BCOR_ENST00000378463.1_Silent_p.P293P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1450					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTGCTTCCGGCGGCATAGGGC	0.617			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						6	3					5.9392e-07	6.43505e-07	1	0	A	39921470	C	A	39921470	2	1	382	1	0	0	0	0	0	0	0	1	1390	755	27	3		3	BCOR	23	39921470	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	2071279	39921470	115349090	484	73653											
UXT	8409	broad.mit.edu	37	chrX	47518284	47518284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcgtagcgcagcactttctCccccgtggcctccaccgccc	4	8	8	21	4	1	0	0	0	1	0	4	0	2	0	6	1	2	3	6	1	1	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:47518284C>G	ENST00000335890.2	-	1	232	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000333119.3_Missense_Mutation_p.E15Q|RP1-212G6.7_ENST00000591832.1_RNA	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	15					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AGCACTTTCTCCCCCGTGGCC	0.652													3	15					0	0	0	0	G	47518284	C	G	47518284	3	3	382	1	0	0	0	0	1	0	0	0	17206	864	30	2	454	2	UXT	23	47518284	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	7596814	47518284	107752276	485	73654											
CCNB3	85417	broad.mit.edu	37	chrX	50054110	50054110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatgtgtctagcactGcccctgaatccataaccagc	11	8	7	15	0	1	1	0	1	1	0	2	1	2	1	5	0	4	1	5	0	4	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:50054110G>A	ENST00000376042.1	+	6	3239	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A981T			Q8WWL7	CCNB3_HUMAN	cyclin B3	981					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTCTAGCACTGCCCCTGAATC	0.478													48	30					0	0	0	0	A	50054110	G	A	50054110	3	1	382	1	0	0	0	0	1	0	0	0	2943	1319	46	4	2955	4	CCNB3	23	50054110	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	2535826	50054110	105216450	486	73655											
SHROOM4	57477	broad.mit.edu	37	chrX	50350944	50350944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccgggtgctttggggCgccaagctgatgtgactctc	5	9	15	12	2	1	2	0	2	1	0	2	2	1	2	2	4	2	2	2	4	1	1			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:50350944C>T	ENST00000376020.2	-	6	3223	c.3198G>A	c.(3196-3198)gcG>gcA	p.A1066A	SHROOM4_ENST00000289292.7_Silent_p.A1066A|SHROOM4_ENST00000460112.3_Silent_p.A950A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1066					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.A1066A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGCTTTGGGGCGCCAAGCTGA	0.587													23	16					0	0	0	0	T	50350944	C	T	50350944	2	4	382	1	0	0	0	0	0	0	0	1	14384	755	27	1		1	SHROOM4	23	50350944	Silent	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	296834	50350944	104919616	487	73656											
PHKA1	5255	broad.mit.edu	37	chrX	71802361	71802361	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggacaaggatggcttCaaccagcagctgacggtact	11	7	14	9	1	1	2	1	2	0	0	1	4	1	4	1	5	4	4	1	5	3	2			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:71802361C>A	ENST00000373545.3	-	31	3697	c.3259G>T	c.(3259-3261)Gaa>Taa	p.E1087*	PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E1057*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E1116*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E1146*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.E1129*			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1129					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGATGGCTTCAACCAGCAGC	0.443													6	28					0.0293803	0.029583	1	0	A	71802361	C	A	71802361	4	1	382	1	0	0	0	0	0	1	0	0	11915	835	29	2	294	2	PHKA1	23	71802361	Nonsense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	21451417	71802361	83468199	488	73657											
KIAA2022	340533	broad.mit.edu	37	chrX	73960499	73960499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttggtgttggtgcccAtgctcatatcactccagcct	5	13	11	12	0	2	0	2	0	0	0	3	0	3	0	3	3	3	4	3	3	1	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:73960499A>G	ENST00000373468.1	-	3	4544	c.3893T>C	c.(3892-3894)aTg>aCg	p.M1298T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.M1298T			Q5QGS0	K2022_HUMAN	KIAA2022	1298					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTTGGTGCCCATGCTCATATC	0.527													30	18					0	0	0	0	G	73960499	A	G	73960499	3	3	382	1	0	0	0	0	1	0	0	0	8320	217	8	5	665	5	KIAA2022	23	73960499	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	2158138	73960499	81310061	489	73658											
TMEM31	203562	broad.mit.edu	37	chrX	102968635	102968635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacgatcaaccttcttgaAgtccttccgtggcctactga	10	11	8	12	2	2	3	1	2	1	1	4	4	4	3	4	1	3	0	4	1	4	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:102968635A>T	ENST00000319560.6	+	3	407	c.216A>T	c.(214-216)gaA>gaT	p.E72D	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	72						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						ACCTTCTTGAAGTCCTTCCGT	0.478													57	27					0	0	0	0	T	102968635	A	T	102968635	3	4	382	1	0	0	0	0	1	0	0	0	16249	69	3	5	222	5	TMEM31	23	102968635	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	29008136	102968635	52301925	490	73659											
MUM1L1	139221	broad.mit.edu	37	chrX	105451293	105451293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaatcaaatagatcaaaTaatgccaacttggataaaag	19	9	6	7	0	2	1	2	0	0	1	2	2	2	2	1	1	3	1	1	1	8	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:105451293T>C	ENST00000337685.2	+	5	2653	c.1868T>C	c.(1867-1869)aTa>aCa	p.I623T	MUM1L1_ENST00000372552.1_Missense_Mutation_p.I623T|MUM1L1_ENST00000357175.2_Missense_Mutation_p.I623T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	623										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGATCAAATAATGCCAACT	0.323													11	6					0	0	0	0	C	105451293	T	C	105451293	3	2	382	1	0	0	0	0	1	0	0	0	10056	1406	49	5	1870	5	MUM1L1	23	105451293	Missense_Mutation	SNP	T	TCGA-D6-A74Q-01A-11D-A34J-08	2482658	105451293	49819267	491	73660											
RNF128	79589	broad.mit.edu	37	chrX	105937453	105937453	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcatccctaagaacaataActaccaagcttgtgaccaca	16	7	6	12	0	0	2	0	1	0	1	1	2	1	2	3	1	4	2	3	1	6	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:105937453A>T	ENST00000324342.3	+	1	386	c.221A>T	c.(220-222)aAc>aTc	p.N74I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	91						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AAGAACAATAACTACCAAGCT	0.403													31	24					0	0	0	0	T	105937453	A	T	105937453	3	4	382	1	0	0	0	0	1	0	0	0	13521	43	2	5	223	5	RNF128	23	105937453	Missense_Mutation	SNP	A	TCGA-D6-A74Q-01A-11D-A34J-08	486160	105937453	49333107	492	73661											
TRPC5	7224	broad.mit.edu	37	chrX	111025209	111025209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtctaccgtcagggtctCttttggggcagaaggtgttg	5	13	14	9	2	3	1	1	0	2	1	5	1	4	1	2	4	1	2	2	4	2	4			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:111025209C>G	ENST00000262839.2	-	8	2972	c.2054G>C	c.(2053-2055)aGa>aCa	p.R685T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	685					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTCAGGGTCTCTTTTGGGGCA	0.433													67	36					0	0	0	0	G	111025209	C	G	111025209	3	3	382	1	0	0	0	0	1	0	0	0	16677	913	32	2	883	2	TRPC5	23	111025209	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	5087756	111025209	44245351	493	73662											
LRCH2	57631	broad.mit.edu	37	chrX	114357122	114357122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactttttacaagcatcaaGaaaattttctacatttcttc	14	16	2	9	0	3	1	1	0	2	1	4	1	3	1	0	0	4	1	0	0	7	8			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:114357122G>A	ENST00000317135.8	-	20	2176	c.2146C>T	c.(2146-2148)Ctt>Ttt	p.L716F	LRCH2_ENST00000538422.1_Missense_Mutation_p.L699F	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	716	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CAAGCATCAAGAAAATTTTCT	0.323													14	9					0	0	0	0	A	114357122	G	A	114357122	3	1	382	1	0	0	0	0	1	0	0	0	8997	942	33	2	159	2	LRCH2	23	114357122	Missense_Mutation	SNP	G	TCGA-D6-A74Q-01A-11D-A34J-08	3331913	114357122	40913438	494	73663											
BRS3	680	broad.mit.edu	37	chrX	135574491	135574491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgaaattagtgtgacctCgttcactgggtgtagtgtga	8	14	13	6	1	2	3	1	3	1	0	3	3	2	3	1	1	0	2	1	1	3	3	rs146164598		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:135574491C>T	ENST00000370648.3	+	3	1385	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	386					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGTGTGACCTCGTTCACTGGG	0.527													6	44					0	0	0	0	T	135574491	C	T	135574491	3	4	382	1	0	0	0	0	1	0	0	0	1530	893	31	1	1167	1	BRS3	23	135574491	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	21217369	135574491	19696069	495	73664											
GABRQ	55879	broad.mit.edu	37	chrX	151821659	151821659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaatcctgactacgtccCaaaggtcgacaagtggtccc	10	10	8	13	2	0	1	0	1	0	0	4	2	3	1	3	2	1	0	3	2	4	3			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:151821659C>T	ENST00000370306.2	+	9	1834	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	605						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GACTACGTCCCAAAGGTCGAC	0.512													41	25					0	0	0	0	T	151821659	C	T	151821659	3	4	382	1	0	0	0	0	1	0	0	0	6223	594	21	4	1848	4	GABRQ	23	151821659	Missense_Mutation	SNP	C	TCGA-D6-A74Q-01A-11D-A34J-08	16247168	151821659	3448901	496	73665											
AHDC1	27245	broad.mit.edu	37	chr1	27876046	27876046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccttccgggactctgggcGagaggctgagagggcaaagt	8	7	17	9	2	1	2	0	1	1	2	2	5	2	3	2	4	1	2	2	4	1	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:27876046G>A	ENST00000374011.2	-	6	3549	c.2581C>T	c.(2581-2583)Cgc>Tgc	p.R861C	AHDC1_ENST00000247087.5_Missense_Mutation_p.R861C|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	861							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GACTCTGGGCGAGAGGCTGAG	0.652													5	53					0	0	0	0	A	27876046	G	A	27876046	3	1	383	1	0	0	0	0	1	0	0	0	412	1058	37	1	2234	1	AHDC1	1	27876046	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08		27876046	221374575	1	73666											
ZBTB8A	653121	broad.mit.edu	37	chr1	33065901	33065901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccagatggcacttgagtGaagatgagaatagatcctat	14	11	10	6	0	0	6	0	3	0	4	2	7	2	6	2	1	0	1	2	1	4	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:33065901G>A	ENST00000373510.4	+	5	1436	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Missense_Mutation_p.H62Y|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GCACTTGAGTGAAGATGAGAA	0.423													4	36					0	0	0	0	A	33065901	G	A	33065901	3	1	383	1	0	0	0	0	1	0	0	0	17651	1291	45	2	1217	2	ZBTB8A	1	33065901	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	5189855	33065901	216184720	2	73667											
LEPR	3953	broad.mit.edu	37	chr1	66067602	66067602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatggtcaaccagtacaatCcagtcacttgcggaaagcac	14	7	9	11	1	2	1	2	0	0	1	3	2	3	2	2	2	4	2	2	2	4	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:66067602C>T	ENST00000349533.6	+	10	1547	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	LEPR_ENST00000371059.3_Silent_p.I454I|LEPR_ENST00000371058.1_Silent_p.I454I|LEPR_ENST00000371060.3_Silent_p.I454I|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Silent_p.I454I|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	454					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAGTACAATCCAGTCACTTG	0.328													11	74					0	0	0	0	T	66067602	C	T	66067602	2	4	383	1	0	0	0	0	0	0	0	1	8781	845	30	2		2	LEPR	1	66067602	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	33001701	66067602	183183019	3	73668											
S100A7	6278	broad.mit.edu	37	chr1	153431379	153431379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagttggggaagttctcCttcatcatcgtcagcaggct	9	11	12	9	1	4	0	3	0	1	0	6	2	4	2	1	4	1	4	1	4	2	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:153431379C>T	ENST00000368723.3	-	2	221	c.111G>A	c.(109-111)aaG>aaA	p.K37K	S100A7_ENST00000368722.1_Silent_p.K37K	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	37	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAAGTTCTCCTTCATCATCG	0.473													9	90					0	0	0	0	T	153431379	C	T	153431379	2	4	383	1	0	0	0	0	0	0	0	1	13868	680	24	4		4	S100A7	1	153431379	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	87363777	153431379	95819242	4	73669											
CFH	3075	broad.mit.edu	37	chr1	196712601	196712601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctcctgtgtgaatccGcccacagtacaaaatgctta	12	9	7	13	1	0	1	0	1	0	0	2	2	2	1	4	0	2	2	4	0	5	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:196712601G>A	ENST00000367429.4	+	20	3393	c.3153G>A	c.(3151-3153)ccG>ccA	p.P1051P		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1051	Sushi 18.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGTGAATCCGCCCACAGTAC	0.368													7	52					0	0	0	0	A	196712601	G	A	196712601	2	1	383	1	0	0	0	0	0	0	0	1	3312	1074	38	1		1	CFH	1	196712601	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	43281222	196712601	52538020	5	73670											
ESRRG	2104	broad.mit.edu	37	chr1	216737739	216737739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatctgcaggatcagaccaGagcactacaagatcactagt	14	9	8	10	0	3	3	2	0	1	3	3	4	3	4	1	1	3	2	1	1	4	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:216737739G>A	ENST00000391890.3	-	7	1153	c.636C>T	c.(634-636)ctC>ctT	p.L212L	ESRRG_ENST00000408911.3_Intron|ESRRG_ENST00000366937.1_Silent_p.L240L|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000359162.2_Intron|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000493603.1_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000366940.2_Intron	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	234					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GATCAGACCAGAGCACTACAA	0.413													4	68					0	0	0	0	A	216737739	G	A	216737739	2	1	383	1	0	0	0	0	0	0	0	1	5300	957	33	2		2	ESRRG	1	216737739	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	20025138	216737739	32512882	6	73671											
TRIM67	440730	broad.mit.edu	37	chr1	231344791	231344791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagctatgacgaccgggtgGtgctgggcacagctgcgttc	6	8	16	11	3	0	1	0	1	0	0	1	2	0	1	1	3	4	6	1	3	1	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:231344791G>T	ENST00000444294.3	+	8	2770	c.1912G>T	c.(1912-1914)Gtg>Ttg	p.V638L	TRIM67_ENST00000366653.5_Missense_Mutation_p.V640L|TRIM67_ENST00000449018.3_Missense_Mutation_p.V578L|TRIM67_ENST00000366652.2_Missense_Mutation_p.V640L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	640	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGACCGGGTGGTGCTGGGCAC	0.612													5	112					1.23904e-05	1.31985e-05	1	0	T	231344791	G	T	231344791	3	4	383	1	0	0	0	0	1	0	0	0	16635	1261	44	4	1948	4	TRIM67	1	231344791	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	14607052	231344791	17905830	7	73672											
FMN2	56776	broad.mit.edu	37	chr1	240370553	240370553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagcctccaccacctcCatcccttctgtggtctgctg	5	11	6	19	0	3	0	1	0	2	0	6	0	6	0	6	1	2	1	6	1	0	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:240370553C>G	ENST00000319653.9	+	5	2671	c.2441C>G	c.(2440-2442)cCa>cGa	p.P814R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	814	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCACCTCCATCCCTTCTG	0.527													7	66					0	0	0	0	G	240370553	C	G	240370553	3	3	383	1	0	0	0	0	1	0	0	0	5995	594	21	4	2459	4	FMN2	1	240370553	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	9025762	240370553	8880068	8	73673											
ADCY3	109	broad.mit.edu	37	chr2	25043595	25043595	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgccactggacatacctGaatgttgcccatgacccccg	8	9	9	15	1	0	2	0	2	0	0	0	3	0	3	5	1	3	1	5	1	2	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:25043595G>A	ENST00000260600.5	-	20	4101	c.3250C>T	c.(3250-3252)Cag>Tag	p.Q1084*	CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Nonsense_Mutation_p.Q671*|CENPO_ENST00000473706.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1084					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGACATACCTGAATGTTGCCC	0.597													9	73					0	0	0	0	A	25043595	G	A	25043595	4	1	383	1	0	0	0	0	0	1	0	0	295	1299	45	2	192	2	ADCY3	2	25043595	Nonsense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08		25043595	218155778	9	73674											
GFPT1	2673	broad.mit.edu	37	chr2	69565126	69565126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgtgtttgtgatcccCacagttaaagctcctctctc	8	13	6	14	0	1	1	0	1	1	0	5	1	3	1	4	0	2	3	4	0	3	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:69565126C>T	ENST00000357308.4	-	15	1564	c.1386G>A	c.(1384-1386)gtG>gtA	p.V462V	GFPT1_ENST00000361060.4_Silent_p.V444V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	462	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TTGTGATCCCCACAGTTAAAG	0.448													52	90					0	0	0	0	T	69565126	C	T	69565126	2	4	383	1	0	0	0	0	0	0	0	1	6396	581	21	4		4	GFPT1	2	69565126	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	44521531	69565126	173634247	10	73675											
NCKAP5	344148	broad.mit.edu	37	chr2	133489551	133489551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcataggtagcgtcctgtCgagcgatttcccgagtctgg	6	11	14	10	4	1	0	0	0	1	0	4	3	3	0	2	3	2	2	2	3	2	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:133489551C>T	ENST00000409261.1	-	17	5575	c.5202G>A	c.(5200-5202)tcG>tcA	p.S1734S	NCKAP5_ENST00000409213.1_Silent_p.S415S|NCKAP5_ENST00000405974.3_Silent_p.S415S|NCKAP5_ENST00000317721.6_Silent_p.S1734S|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1734							protein binding	p.S254S(1)|p.S1734S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCGTCCTGTCGAGCGATTTC	0.547													4	35					0	0	0	0	T	133489551	C	T	133489551	2	4	383	1	0	0	0	0	0	0	0	1	10293	871	31	1		1	NCKAP5	2	133489551	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	63924425	133489551	109709822	11	73676											
ZAK	51776	broad.mit.edu	37	chr2	174104208	174104208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttttcacttgaaacCaggaactggcccacaggtaa	11	12	9	9	0	1	1	1	1	0	0	1	2	1	2	2	4	2	2	2	4	3	6			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:174104208C>G	ENST00000375213.3	+	16	1421	c.1343C>G	c.(1342-1344)cCa>cGa	p.P448R	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.P448R|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					CACTTGAAACCAGGAACTGGC	0.388													8	48					0	0	0	0	G	174104208	C	G	174104208	3	3	383	1	0	0	0	0	1	0	0	0	17608	594	21	4	1786	4	ZAK	2	174104208	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	40614657	174104208	69095165	12	73677											
TTN	7273	broad.mit.edu	37	chr2	179437281	179437281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagtgacctcttttaccttCagatcctgtggggggcctgg	5	14	12	10	0	2	2	1	1	1	1	3	2	3	2	4	4	1	0	4	4	2	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:179437281C>T	ENST00000589042.1	-	326	73802	c.73578G>A	c.(73576-73578)ctG>ctA	p.L24526L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.L15586L|TTN_ENST00000342992.6_Silent_p.L21958L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L22885L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.L15653L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L15461L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22885	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTACCTTCAGATCCTGTG	0.433													6	70					0	0	0	0	T	179437281	C	T	179437281	2	4	383	1	0	0	0	0	0	0	0	1	16831	813	29	2		2	TTN	2	179437281	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	5333073	179437281	63762092	13	73678											
TTN	7273	broad.mit.edu	37	chr2	179595271	179595271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgcattggttgtgccctgCcttatttgtggcagaacaag	8	13	11	9	0	0	1	0	0	0	1	0	1	0	1	2	2	4	3	2	2	3	4	rs72648946	by1000genomes	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:179595271C>G	ENST00000589042.1	-	61	18213	c.17989G>C	c.(17989-17991)Gca>Cca	p.A5997P	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A4753P|TTN_ENST00000591111.1_Missense_Mutation_p.A5680P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5680	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGCCCTGCCTTATTTGTG	0.383													13	113					0	0	0	0	G	179595271	C	G	179595271	3	3	383	1	0	0	0	0	1	0	0	0	16831	739	26	4	86748	4	TTN	2	179595271	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	157990	179595271	63604102	14	73679											
ZDBF2	57683	broad.mit.edu	37	chr2	207174876	207174876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcgaaggggaaaaaaaAggttacctgggctgacttgc	12	10	12	7	1	1	1	0	1	1	0	2	3	1	2	1	4	2	2	1	4	6	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:207174876A>G	ENST00000374423.3	+	5	6010	c.5624A>G	c.(5623-5625)aAg>aGg	p.K1875R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1875							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGGAAAAAAAAGGTTACCTGG	0.418													8	44					0	0	0	0	G	207174876	A	G	207174876	3	3	383	1	0	0	0	0	1	0	0	0	17694	72	3	5	5634	5	ZDBF2	2	207174876	Missense_Mutation	SNP	A	TCGA-DQ-5624-01A-01D-1870-08	27579605	207174876	36024497	15	73680											
MDH1B	130752	broad.mit.edu	37	chr2	207615717	207615717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggtccccaaatggcactCtcatatctgtacacccttgt	10	11	7	13	0	2	1	1	0	2	1	4	1	3	1	3	2	1	2	3	2	3	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:207615717C>T	ENST00000374412.3	-	6	1268	c.993G>A	c.(991-993)gaG>gaA	p.E331E	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Silent_p.E233E|MDH1B_ENST00000454776.2_Silent_p.E331E	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	331					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGGCACTCTCATATCTGT	0.353													11	69					0	0	0	0	T	207615717	C	T	207615717	2	4	383	1	0	0	0	0	0	0	0	1	9478	912	32	2		2	MDH1B	2	207615717	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	440841	207615717	35583656	16	73681											
FANCD2	2177	broad.mit.edu	37	chr3	10088287	10088287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgacctggtgatgcttttCatcatctatagcaccaatac	10	15	6	10	0	3	2	2	2	1	0	3	2	3	2	2	1	3	2	2	1	4	6			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:10088287C>T	ENST00000287647.3	+	15	1251	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	FANCD2_ENST00000383806.1_Silent_p.F386F|FANCD2_ENST00000383807.1_Silent_p.F386F|FANCD2_ENST00000419585.1_Silent_p.F386F	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	386					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGATGCTTTTCATCATCTATA	0.373			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	39					0	0	0	0	T	10088287	C	T	10088287	2	4	383	1	0	0	0	0	0	0	0	1	5710	825	29	2		2	FANCD2	3	10088287	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		10088287	187934143	17	73682											
SETD2	29072	broad.mit.edu	37	chr3	47164195	47164195	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaatactatcatggctaTcatgtgttataaattcggac	12	15	6	8	1	2	0	2	0	0	0	3	1	2	1	1	2	1	2	1	2	7	7			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47164195T>A	ENST00000409792.3	-	3	1973	c.1931A>T	c.(1930-1932)gAt>gTt	p.D644V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCATGGCTATCATGTGTTAT	0.313			"N, F, S, Mis"		clear cell renal carcinoma								4	64					0	0	0	0	A	47164195	T	A	47164195	3	1	383	1	0	0	0	0	1	0	0	0	14218	1435	50	5	5839	5	SETD2	3	47164195	Missense_Mutation	SNP	T	TCGA-DQ-5624-01A-01D-1870-08	37075908	47164195	150858235	18	73683											
SETD2	29072	broad.mit.edu	37	chr3	47164342	47164342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttaattcactaccttttGaacaaggtgtctgtaaacta	12	16	5	8	0	3	1	1	1	2	0	3	1	3	1	1	1	3	1	1	1	7	8			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47164342G>A	ENST00000409792.3	-	3	1826	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTACCTTTTGAACAAGGTGT	0.308			"N, F, S, Mis"		clear cell renal carcinoma								8	45					0	0	0	0	A	47164342	G	A	47164342	3	1	383	1	0	0	0	0	1	0	0	0	14218	1294	45	2	5986	2	SETD2	3	47164342	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	147	47164342	150858088	19	73684											
MAP4	4134	broad.mit.edu	37	chr3	47951012	47951012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttggtcctcacaaaaactGagcttttgtgctttgtcttc	7	18	7	9	0	2	1	1	1	1	0	4	1	3	1	1	1	3	2	1	1	2	6			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47951012G>A	ENST00000426837.2	-	10	5037	c.4950C>T	c.(4948-4950)ctC>ctT	p.L1650L	MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000264724.11_Silent_p.L240L|MAP4_ENST00000395734.3_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	1007					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CACAAAAACTGAGCTTTTGTG	0.383													30	198					0	0	0	0	A	47951012	G	A	47951012	2	1	383	1	0	0	0	0	0	0	0	1	9327	1277	45	2		2	MAP4	3	47951012	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	786670	47951012	150071418	20	73685											
ATR	545	broad.mit.edu	37	chr3	142285095	142285095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagttttctttacaagttCtacagcaactaaaacaataa	16	13	4	8	0	3	0	1	0	2	0	3	0	3	0	0	0	5	3	0	0	8	8			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:142285095C>G	ENST00000350721.4	-	3	281	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	ATR_ENST00000383101.3_Missense_Mutation_p.E54Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	54					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			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						TTTACAAGTTCTACAGCAACT	0.388								Other conserved DNA damage response genes					3	48					0	0	0	0	G	142285095	C	G	142285095	3	3	383	1	0	0	0	0	1	0	0	0	1208	922	32	2	7954	2	ATR	3	142285095	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	94334083	142285095	55737335	21	73686											
HLTF	6596	broad.mit.edu	37	chr3	148768099	148768099	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccggttctctaatacgatCaggaccataataaacataaa	16	9	7	9	2	2	0	1	0	1	0	3	2	2	1	2	3	2	1	2	3	7	6			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:148768099C>G	ENST00000310053.5	-	15	1730	c.1537G>C	c.(1537-1539)Gat>Cat	p.D513H	HLTF_ENST00000465259.1_Missense_Mutation_p.D512H|HLTF_ENST00000494055.1_Missense_Mutation_p.D513H|HLTF_ENST00000392912.2_Missense_Mutation_p.D513H	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	513	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTAATACGATCAGGACCATAA	0.299													6	114					0	0	0	0	G	148768099	C	G	148768099	3	3	383	1	0	0	0	0	1	0	0	0	7265	826	29	2	1536	2	HLTF	3	148768099	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	6483004	148768099	49254331	22	73687											
VEPH1	79674	broad.mit.edu	37	chr3	157177889	157177889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taatactctaggtcttgcttCccacaaaccataaatgcttg	12	13	5	11	0	2	0	0	0	2	0	3	0	3	0	2	1	4	2	2	1	6	7			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:157177889C>T	ENST00000494677.1	-	5	1132	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	VEPH1_ENST00000468233.1_Missense_Mutation_p.E204K|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000392833.2_Intron	NM_001167915.1	NP_001161387.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	0						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTCTTGCTTCCCACAAACCA	0.393													4	67					0	0	0	0	T	157177889	C	T	157177889	3	4	383	1	0	0	0	0	1	0	0	0	17250	864	30	2	2057	2	VEPH1	3	157177889	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	8409790	157177889	40844541	23	73688											
SI	6476	broad.mit.edu	37	chr3	164724661	164724661	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaacatcgtaatgcaaaActgatgttccatcactaaga	15	11	7	8	1	1	3	1	2	0	1	3	3	2	3	1	0	3	3	1	0	5	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:164724661A>C	ENST00000264382.3	-	37	4411	c.4349T>G	c.(4348-4350)gTt>gGt	p.V1450G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1450	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAATGCAAAACTGATGTTCC	0.358										HNSCC(35;0.089)			10	32					0	0	0	0	C	164724661	A	C	164724661	3	2	383	1	0	0	0	0	1	0	0	0	14385	43	2	5	1182	5	SI	3	164724661	Missense_Mutation	SNP	A	TCGA-DQ-5624-01A-01D-1870-08	7546772	164724661	33297769	24	73689											
STX18	53407	broad.mit.edu	37	chr4	4543567	4543567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgcccttgggccgggggCtccggcggaacagctcgtcc	4	6	16	15	5	0	0	0	0	0	0	4	1	2	1	4	5	2	2	4	5	1	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:4543567C>T	ENST00000306200.2	-	1	188	c.125G>A	c.(124-126)aGc>aAc	p.S42N	STX18_ENST00000505286.1_Missense_Mutation_p.S42N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	42					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GGGCCGGGGGCTCCGGCGGAA	0.701													3	18					0	0	0	0	T	4543567	C	T	4543567	3	4	383	1	0	0	0	0	1	0	0	0	15431	797	28	4	926	4	STX18	4	4543567	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		4543567	186610709	25	73690											
SHROOM3	57619	broad.mit.edu	37	chr4	77476765	77476765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctccctccaagcaggtcGaagaagggggcaaagcagac	12	5	12	12	1	1	2	0	0	1	2	5	3	3	2	2	3	2	3	2	3	4	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:77476765G>A	ENST00000296043.6	+	2	1125	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	58	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAGCAGGTCGAAGAAGGGGG	0.602													5	36					0	0	0	0	A	77476765	G	A	77476765	3	1	383	1	0	0	0	0	1	0	0	0	14383	1059	37	1	178	1	SHROOM3	4	77476765	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	72933198	77476765	113677511	26	73691											
LRBA	987	broad.mit.edu	37	chr4	151392835	151392835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatctctctgtgttgccatCgctgggtcatattagaagcc	8	14	9	10	1	3	1	1	0	2	1	5	1	3	1	2	1	2	2	2	1	4	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:151392835C>T	ENST00000535741.1	-	43	7081	c.6608G>A	c.(6607-6609)cGa>cAa	p.R2203Q	LRBA_ENST00000507224.1_Missense_Mutation_p.R2203Q|LRBA_ENST00000357115.3_Missense_Mutation_p.R2214Q|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.R2203Q			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2214	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTGTTGCCATCGCTGGGTCAT	0.328													11	100					0	0	0	0	T	151392835	C	T	151392835	3	4	383	1	0	0	0	0	1	0	0	0	8995	884	31	1	2010	1	LRBA	4	151392835	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	73916070	151392835	39761441	27	73692											
FGA	2243	broad.mit.edu	37	chr4	155506821	155506821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcctctgttgtaactcGtgctactagtaaattgtttg	8	17	8	8	1	2	0	0	0	2	0	4	0	2	0	1	0	3	5	1	0	5	7			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:155506821G>A	ENST00000302053.3	-	5	1838	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M	FGA_ENST00000403106.3_Missense_Mutation_p.T587M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	587					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTGTAACTCGTGCTACTAGT	0.433													28	75					0	0	0	0	A	155506821	G	A	155506821	3	1	383	1	0	0	0	0	1	0	0	0	5875	1145	40	1	892	1	FGA	4	155506821	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	4113986	155506821	35647455	28	73693											
GRIA2	2891	broad.mit.edu	37	chr4	158242702	158242702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatttatagaaagatggtCaacactggaagaaaaagaat	21	9	8	3	0	1	4	1	0	0	4	1	5	1	5	0	2	1	0	0	2	10	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:158242702C>T	ENST00000296526.7	+	6	1158	c.833C>T	c.(832-834)tCa>tTa	p.S278L	GRIA2_ENST00000449365.1_Missense_Mutation_p.S231L|GRIA2_ENST00000507898.1_Missense_Mutation_p.S231L|GRIA2_ENST00000393815.2_Missense_Mutation_p.S231L|GRIA2_ENST00000264426.9_Missense_Mutation_p.S278L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	278					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.S278L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAAGATGGTCAACACTGGAA	0.368													10	91					0	0	0	0	T	158242702	C	T	158242702	3	4	383	1	0	0	0	0	1	0	0	0	6818	838	29	2	855	2	GRIA2	4	158242702	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	2735881	158242702	32911574	29	73694											
DDX60L	91351	broad.mit.edu	37	chr4	169300950	169300950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcttcgtctcttaaaaGacagcaatgaatgctttagc	11	13	8	9	1	2	2	0	1	2	1	4	2	2	2	0	1	3	3	0	1	5	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:169300950G>C	ENST00000511577.1	-	31	4395	c.4148C>G	c.(4147-4149)tCt>tGt	p.S1383C	DDX60L_ENST00000260184.7_Missense_Mutation_p.S1383C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1383							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTCTTAAAAGACAGCAATGA	0.323													6	30					0	0	0	0	C	169300950	G	C	169300950	3	2	383	1	0	0	0	0	1	0	0	0	4411	942	33	2	1004	2	DDX60L	4	169300950	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	11058248	169300950	21853326	30	73695											
LRRC14B	389257	broad.mit.edu	37	chr5	195216	195216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaaggactgctacccCgagggtgccgcctacccaca	8	5	11	17	2	0	0	0	0	0	0	0	2	0	1	6	2	5	1	6	2	3	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:195216C>T	ENST00000328278.3	+	2	1321	c.1293C>T	c.(1291-1293)ccC>ccT	p.P431P		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	431										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ACTGCTACCCCGAGGGTGCCG	0.672													25	119					0	0	0	0	T	195216	C	T	195216	2	4	383	1	0	0	0	0	0	0	0	1	9033	639	23	1		1	LRRC14B	5	195216	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		195216	180720044	31	73696											
GHR	2690	broad.mit.edu	37	chr5	42711358	42711358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtactcattgaaagtggAtaaggaatatgaagtgcgtg	14	11	13	3	1	1	2	1	2	0	0	1	4	1	4	0	2	2	1	0	2	6	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:42711358A>G	ENST00000230882.4	+	7	858	c.668A>G	c.(667-669)gAt>gGt	p.D223G	GHR_ENST00000357703.3_Missense_Mutation_p.D201G|GHR_ENST00000537449.1_Missense_Mutation_p.D36G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	223	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGAAAGTGGATAAGGAATAT	0.398													45	83					0	0	0	0	G	42711358	A	G	42711358	3	3	383	1	0	0	0	0	1	0	0	0	6422	333	12	5	690	5	GHR	5	42711358	Missense_Mutation	SNP	A	TCGA-DQ-5624-01A-01D-1870-08	42516142	42711358	138203902	32	73697											
GZMA	3001	broad.mit.edu	37	chr5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctatgacccagccacaCgcgaaggtgaccttaaactt	12	8	8	13	2	0	2	0	2	0	0	0	3	0	2	3	1	3	1	3	1	4	3	rs150441571	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443													6	62					0	0	0	0	T	54403737	C	T	54403737	3	4	383	1	0	0	0	0	1	0	0	0	6965	536	19	1	341	1	GZMA	5	54403737	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	11692379	54403737	126511523	33	73698											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347664	140347664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgtctacaacatcaCggtgacagccacagatgggg	10	7	14	10	1	2	2	1	1	1	1	2	2	2	2	1	5	3	1	1	5	2	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:140347664C>T	ENST00000289269.5	+	1	1845	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		438	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAACATCACGGTGACAGCC	0.552													26	93					0	0	0	0	T	140347664	C	T	140347664	3	4	383	1	0	0	0	0	1	0	0	0	11604	536	19	1	1315	1	PCDHAC2	5	140347664	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	85943927	140347664	40567596	34	73699											
PDGFRB	5159	broad.mit.edu	37	chr5	149500844	149500844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtccatgtagcttagcactgGagactcgttgatcaaagttg	10	12	11	8	1	1	2	1	1	0	1	3	3	2	2	1	1	2	5	1	1	3	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:149500844G>A	ENST00000261799.4	-	17	2855	c.2386C>T	c.(2386-2388)Cca>Tca	p.P796S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	796	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTAGCACTGGAGACTCGTTG	0.562			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								5	60					0	0	0	0	A	149500844	G	A	149500844	3	1	383	1	0	0	0	0	1	0	0	0	11733	1174	41	2	962	2	PDGFRB	5	149500844	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	9153180	149500844	31414416	35	73700											
GEMIN5	25929	broad.mit.edu	37	chr5	154287226	154287226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtctgacacaccattctCaacaggtcctgagttctcct	8	13	7	13	0	3	2	1	2	3	0	6	2	4	2	3	2	1	1	3	2	1	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:154287226C>G	ENST00000285873.7	-	16	2395	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	774					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACCATTCTCAACAGGTCCT	0.498													14	101					0	0	0	0	G	154287226	C	G	154287226	3	3	383	1	0	0	0	0	1	0	0	0	6382	835	29	2	2258	2	GEMIN5	5	154287226	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	4786382	154287226	26628034	36	73701											
SYCP2L	221711	broad.mit.edu	37	chr6	10903148	10903148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cattttgcacgctgtccctcGagaagagagaaaaaaattcc	14	9	8	10	2	0	3	0	0	0	3	3	5	2	3	2	0	1	2	2	0	4	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:10903148G>C	ENST00000283141.6	+	8	889	c.593G>C	c.(592-594)cGa>cCa	p.R198P	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.R39P	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	198						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GCTGTCCCTCGAGAAGAGAGA	0.388													5	40					0	0	0	0	C	10903148	G	C	10903148	3	2	383	1	0	0	0	0	1	0	0	0	15524	1058	37	3	623	3	SYCP2L	6	10903148	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08		10903148	160211919	37	73702											
MDN1	23195	broad.mit.edu	37	chr6	90440541	90440541	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcttcaactcatttttctGatattctgtaagtcgtacta	11	18	4	8	1	5	1	2	1	3	0	6	1	5	1	0	0	2	2	0	0	6	8			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:90440541G>A	ENST00000369393.3	-	35	5159	c.5044C>T	c.(5044-5046)Cag>Tag	p.Q1682*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q1682*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1682					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATTTTTCTGATATTCTGTA	0.378													6	42					0	0	0	0	A	90440541	G	A	90440541	4	1	383	1	0	0	0	0	0	1	0	0	9484	1299	45	2	12018	2	MDN1	6	90440541	Nonsense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	79537393	90440541	80674526	38	73703											
LIN28B	389421	broad.mit.edu	37	chr6	105526438	105526438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccacccgcgagttctcaggGaagacaggaagcagaatccc	12	4	12	13	2	1	2	1	0	1	2	3	5	2	4	3	2	1	2	3	2	3	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:105526438G>A	ENST00000345080.4	+	4	736	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	178					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGTTCTCAGGGAAGACAGGAA	0.547													3	26					0	0	0	0	A	105526438	G	A	105526438	3	1	383	1	0	0	0	0	1	0	0	0	8861	1174	41	2	547	2	LIN28B	6	105526438	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	15085897	105526438	65588629	39	73704											
COX19	90639	broad.mit.edu	37	chr7	1015111	1015111	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgggggccgcggctggAagctcttggtcccgaaattc	5	9	15	12	4	1	0	0	0	1	0	4	2	3	1	3	5	1	2	3	5	2	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:1015111A>T	ENST00000344111.3	-	1	124	c.35T>A	c.(34-36)tTc>tAc	p.F12Y		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	12						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CCGCGGCTGGAAGCTCTTGGT	0.701													3	15					0	0	0	0	T	1015111	A	T	1015111	3	4	383	1	0	0	0	0	1	0	0	0	3798	246	9	5	249	5	COX19	7	1015111	Missense_Mutation	SNP	A	TCGA-DQ-5624-01A-01D-1870-08		1015111	158123552	40	73705											
SDK1	221935	broad.mit.edu	37	chr7	3991530	3991530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttttgaaccggccagggcGacggcctttcttttcatcat	6	13	10	12	3	3	1	2	1	1	0	3	2	3	1	3	3	1	1	3	3	1	5			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:3991530G>A	ENST00000404826.2	+	7	1267	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	SDK1_ENST00000389531.3_Silent_p.A376A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	376	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGCCAGGGCGACGGCCTTTC	0.577													3	32					0	0	0	0	A	3991530	G	A	3991530	2	1	383	1	0	0	0	0	0	0	0	1	14055	1045	37	1		1	SDK1	7	3991530	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	2976419	3991530	155147133	41	73706											
DGKB	1607	broad.mit.edu	37	chr7	14378223	14378223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctattcgtcgatggcttCgtcttttcttagactctccc	4	18	6	13	3	4	1	0	0	4	1	9	2	4	1	1	1	0	1	1	1	2	6			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:14378223C>T	ENST00000403951.2	-	23	2461	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.R662Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R681Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R673Q|DGKB_ENST00000402815.1_Missense_Mutation_p.R680Q|DGKB_ENST00000258767.5_Missense_Mutation_p.R681Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R681Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					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.R681Q(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)	TCGATGGCTTCGTCTTTTCTT	0.398													13	98					0	0	0	0	T	14378223	C	T	14378223	3	4	383	1	0	0	0	0	1	0	0	0	4503	884	31	1	403	1	DGKB	7	14378223	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	10386693	14378223	144760440	42	73707											
EGFR	1956	broad.mit.edu	37	chr7	55220268	55220268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgtgcccagcagtgcTccgggcgctgccgtggcaag	5	8	14	14	3	2	0	1	0	1	0	3	0	3	0	3	2	4	4	3	2	1	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:55220268T>C	ENST00000275493.2	+	6	835	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	EGFR_ENST00000442591.1_Missense_Mutation_p.S220P|EGFR_ENST00000455089.1_Missense_Mutation_p.S175P|EGFR_ENST00000454757.2_Missense_Mutation_p.S167P|EGFR_ENST00000420316.2_Missense_Mutation_p.S220P|EGFR_ENST00000344576.2_Missense_Mutation_p.S220P|EGFR_ENST00000342916.3_Missense_Mutation_p.S220P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	220					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAGCAGTGCTCCGGGCGCTG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	589					0	0	0	0	C	55220268	T	C	55220268	3	2	383	1	0	0	0	0	1	0	0	0	5003	1551	54	5	680	5	EGFR	7	55220268	Missense_Mutation	SNP	T	TCGA-DQ-5624-01A-01D-1870-08	40842045	55220268	103918395	43	73708											
MAGI2	9863	broad.mit.edu	37	chr7	77885755	77885755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccatgctgttagcagggtCttcaggatcaaagggcaaag	12	8	12	9	0	3	0	2	0	1	0	3	1	3	1	1	3	2	4	1	3	3	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:77885755C>T	ENST00000354212.4	-	10	1805	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	MAGI2_ENST00000536571.1_Missense_Mutation_p.D350N|MAGI2_ENST00000522391.1_Missense_Mutation_p.D518N|MAGI2_ENST00000535697.1_Missense_Mutation_p.D355N|MAGI2_ENST00000419488.1_Missense_Mutation_p.D518N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	518						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTAGCAGGGTCTTCAGGATCA	0.473													3	31					0	0	0	0	T	77885755	C	T	77885755	3	4	383	1	0	0	0	0	1	0	0	0	9260	913	32	2	2867	2	MAGI2	7	77885755	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	22665487	77885755	81252908	44	73709											
GRM3	2913	broad.mit.edu	37	chr7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactcagtgataagtcgCgctatgattactttgccagg	11	11	9	10	2	1	2	1	2	0	0	2	2	1	2	2	1	3	1	2	1	4	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:86415655C>T	ENST00000361669.2	+	3	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_ENST00000394720.2_Missense_Mutation_p.R181C|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R183C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R55C	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	183					synaptic transmission	integral to plasma membrane		p.R183C(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)	TGATAAGTCGCGCTATGATTA	0.562													45	74					0	0	0	0	T	86415655	C	T	86415655	3	4	383	1	0	0	0	0	1	0	0	0	6848	768	27	1	553	1	GRM3	7	86415655	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	8529900	86415655	72723008	45	73710											
PDAP1	11333	broad.mit.edu	37	chr7	98998040	98998040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcccttcaacgcctttgCgcttttgctagaacagggca	8	11	10	12	2	1	2	1	1	0	1	1	2	1	2	2	1	5	3	2	1	3	5			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:98998040C>T	ENST00000350498.3	-	4	501	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	74					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	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)		Becaplermin(DB00102)	AACGCCTTTGCGCTTTTGCTA	0.557													7	35					0	0	0	0	T	98998040	C	T	98998040	3	4	383	1	0	0	0	0	1	0	0	0	11684	768	27	1	336	1	PDAP1	7	98998040	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	12582385	98998040	60140623	46	73711											
IMPDH1	3614	broad.mit.edu	37	chr7	128034398	128034398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcttctcaaacttgagctctCctgagtacatcatggaccta	10	12	7	12	0	3	2	2	2	2	0	5	3	3	3	2	1	3	3	2	1	3	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128034398C>G	ENST00000338791.6	-	16	2062	c.1712G>C	c.(1711-1713)gGa>gCa	p.G571A	IMPDH1_ENST00000378717.4_Missense_Mutation_p.G502A|IMPDH1_ENST00000496200.1_Missense_Mutation_p.G461A|IMPDH1_ENST00000470772.1_Missense_Mutation_p.G485A|IMPDH1_ENST00000480861.1_Missense_Mutation_p.G481A|IMPDH1_ENST00000419067.2_Missense_Mutation_p.G538A|IMPDH1_ENST00000354269.5_Missense_Mutation_p.G561A|IMPDH1_ENST00000348127.6_Missense_Mutation_p.G535A|IMPDH1_ENST00000343214.4_Missense_Mutation_p.G461A	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	486					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTTGAGCTCTCCTGAGTACAT	0.577													3	43					0	0	0	0	G	128034398	C	G	128034398	3	3	383	1	0	0	0	0	1	0	0	0	7779	855	30	2	95	2	IMPDH1	7	128034398	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	29036358	128034398	31104265	47	73712											
IMPDH1	3614	broad.mit.edu	37	chr7	128034977	128034977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggctgctgctgctcttctCcatggcatccagtgagccca	5	11	10	15	0	2	1	0	1	2	0	4	1	3	1	3	2	4	5	3	2	0	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128034977C>G	ENST00000338791.6	-	14	1866	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	IMPDH1_ENST00000378717.4_Missense_Mutation_p.E437Q|IMPDH1_ENST00000496200.1_Missense_Mutation_p.E396Q|IMPDH1_ENST00000470772.1_Missense_Mutation_p.E420Q|IMPDH1_ENST00000480861.1_Missense_Mutation_p.E416Q|IMPDH1_ENST00000419067.2_Missense_Mutation_p.E473Q|IMPDH1_ENST00000354269.5_Missense_Mutation_p.E496Q|IMPDH1_ENST00000348127.6_Missense_Mutation_p.E470Q|IMPDH1_ENST00000343214.4_Missense_Mutation_p.E396Q	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	421					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTGCTCTTCTCCATGGCATCC	0.637													3	62					0	0	0	0	G	128034977	C	G	128034977	3	3	383	1	0	0	0	0	1	0	0	0	7779	864	30	2	299	2	IMPDH1	7	128034977	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	579	128034977	31103686	48	73713											
FAM71F2	346653	broad.mit.edu	37	chr7	128317777	128317777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcttggtgaaaattctgcaGaaaggcctgtccatcaccac	11	9	9	12	1	2	2	1	1	1	1	3	2	3	2	3	2	1	2	3	2	3	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128317777G>C	ENST00000480462.1	+	3	631	c.525G>C	c.(523-525)caG>caC	p.Q175H	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Missense_Mutation_p.Q166H			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	175										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						AAATTCTGCAGAAAGGCCTGT	0.488													4	43					0	0	0	0	C	128317777	G	C	128317777	3	2	383	1	0	0	0	0	1	0	0	0	5659	933	33	2	535	2	FAM71F2	7	128317777	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	282800	128317777	30820886	49	73714											
ATP6V0E2	155066	broad.mit.edu	37	chr7	149575776	149575776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccctggcagctggctcatCgccatcctggcgcagctgaa	6	8	12	15	2	1	1	1	1	0	0	4	1	3	1	3	3	2	5	3	3	1	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:149575776C>T	ENST00000456496.2	+	3	1260	c.309C>T	c.(307-309)atC>atT	p.I103I	ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Silent_p.I54I|ATP6V0E2_ENST00000479613.1_Silent_p.I54I|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000425642.2_Silent_p.I54I|ATP6V0E2_ENST00000421974.2_Intron	NM_145230.2	NP_660265.2	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	54					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCTGGCTCATCGCCATCCTGG	0.642													7	28					0	0	0	0	T	149575776	C	T	149575776	2	4	383	1	0	0	0	0	0	0	0	1	1180	874	31	1		1	ATP6V0E2	7	149575776	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	21257999	149575776	9562887	50	73715											
CHRNA2	1135	broad.mit.edu	37	chr8	27319264	27319264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaacatacttccagtccTccttcacctgtggggaagac	9	10	9	13	0	1	1	1	0	0	1	4	2	4	2	4	3	2	1	4	3	3	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:27319264T>C	ENST00000407991.1	-	7	2080	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	CHRNA2_ENST00000240132.2_Missense_Mutation_p.E476G|CHRNA2_ENST00000520933.2_Missense_Mutation_p.E491G	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	491						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CTTCCAGTCCTCCTTCACCTG	0.592													3	61					0	0	0	0	C	27319264	T	C	27319264	3	2	383	1	0	0	0	0	1	0	0	0	3412	1551	54	5	121	5	CHRNA2	8	27319264	Missense_Mutation	SNP	T	TCGA-DQ-5624-01A-01D-1870-08		27319264	119044758	51	73716											
POTEA	340441	broad.mit.edu	37	chr8	43216290	43216290	+	RNA	DEL	A	A	-																															gaagcagatagaagtggccgAaaaaaaaatgaattttgagg																										TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:43216290delA	ENST00000522175.2	+	0	1543							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTGGCCGAAAAAAAAATG	0.284													2	4	---	---	---	---					-	43216290	A	-	43216290	6	5	383	0	1	1	0	1	0	0	0	0	12333	261	9	0		0	POTEA	8	43216290	RNA	DEL	A	TCGA-DQ-5624-01A-01D-1870-08	15897026	43216290	103147732	52	73717											
CA8	767	broad.mit.edu	37	chr8	61139461	61139461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcttggaggatttcagTcacagccttcaagccaacat	13	11	7	10	0	4	0	3	0	1	0	4	2	4	2	2	2	3	0	2	2	4	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:61139461T>C	ENST00000317995.4	-	5	811	c.547A>G	c.(547-549)Act>Gct	p.T183A	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	183					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				AGGATTTCAGTCACAGCCTTC	0.363													3	82					0	0	0	0	C	61139461	T	C	61139461	3	2	383	1	0	0	0	0	1	0	0	0	2548	1667	58	5	341	5	CA8	8	61139461	Missense_Mutation	SNP	T	TCGA-DQ-5624-01A-01D-1870-08	17923171	61139461	85224561	53	73718											
RALYL	138046	broad.mit.edu	37	chr8	85785593	85785593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgactccttgctagggCgcctggagaagattgagaaa	13	9	12	7	1	0	4	0	2	0	3	1	6	1	4	2	2	1	1	2	2	4	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:85785593C>T	ENST00000521268.1	+	7	1751	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	RALYL_ENST00000518566.1_Missense_Mutation_p.R205C|RALYL_ENST00000517638.1_Missense_Mutation_p.R229C|RALYL_ENST00000523850.1_Missense_Mutation_p.R143C|RALYL_ENST00000521695.1_Missense_Mutation_p.R216C|RALYL_ENST00000522455.1_Missense_Mutation_p.R216C|RALYL_ENST00000521376.1_Missense_Mutation_p.R127C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	216							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTTGCTAGGGCGCCTGGAGAA	0.423													3	12					0	0	0	0	T	85785593	C	T	85785593	3	4	383	1	0	0	0	0	1	0	0	0	13102	768	27	1	711	1	RALYL	8	85785593	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	24646132	85785593	60578429	54	73719											
DPYS	1807	broad.mit.edu	37	chr8	105456608	105456608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccactgcctctgggcGgcacagctcgtggccctcag	4	8	12	17	2	2	0	1	0	1	0	4	0	3	0	4	3	3	2	4	3	0	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:105456608G>A	ENST00000351513.2	-	4	793	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	221					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTCTGGGCGGCACAGCTCG	0.542													6	56					0	0	0	0	A	105456608	G	A	105456608	3	1	383	1	0	0	0	0	1	0	0	0	4782	1116	39	1	922	1	DPYS	8	105456608	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	19671015	105456608	40907414	55	73720											
ASAP1	50807	broad.mit.edu	37	chr8	131129204	131129204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catactacagtagtgtagaaCtgtgtttcccagggccgtct	9	12	10	10	1	1	1	0	0	1	1	2	1	2	1	2	1	3	3	2	1	5	5			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:131129204C>A	ENST00000357668.1	-	20	1945	c.1918G>T	c.(1918-1920)Gtt>Ttt	p.V640F	ASAP1_ENST00000518721.1_Missense_Mutation_p.V640F			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	640					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TAGTGTAGAACTGTGTTTCCC	0.383													33	67					1.62565e-12	1.77015e-12	1	0	A	131129204	C	A	131129204	3	1	383	1	0	0	0	0	1	0	0	0	1014	565	20	4	1511	4	ASAP1	8	131129204	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	25672596	131129204	15234818	56	73721											
KCNK9	51305	broad.mit.edu	37	chr8	140631260	140631260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctctggaacatgacCagtgtcagcgggatgcccag	9	6	13	13	1	2	1	1	1	1	0	2	3	2	3	3	3	3	1	3	3	1	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:140631260C>T	ENST00000520439.1	-	2	429	c.366G>A	c.(364-366)ctG>ctA	p.L122L	KCNK9_ENST00000303015.1_Silent_p.L122L			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	122						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGAACATGACCAGTGTCAGCG	0.597													4	23					0	0	0	0	T	140631260	C	T	140631260	2	4	383	1	0	0	0	0	0	0	0	1	8125	581	21	4		4	KCNK9	8	140631260	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	9502056	140631260	5732762	57	73722											
GPR20	2843	broad.mit.edu	37	chr8	142367126	142367126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggaagccactggtgaCgaagcagtagacgatggggt	10	6	17	8	2	0	2	0	1	0	1	0	5	0	3	2	5	2	2	2	5	3	1	rs150478338		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:142367126C>T	ENST00000377741.3	-	2	988	c.898G>A	c.(898-900)Gtc>Atc	p.V300I		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	300						integral to plasma membrane	G-protein coupled receptor activity	p.V300I(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACTGGTGACGAAGCAGTAG	0.647													7	70					0	0	0	0	T	142367126	C	T	142367126	3	4	383	1	0	0	0	0	1	0	0	0	6729	536	19	1	182	1	GPR20	8	142367126	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	1735866	142367126	3996896	58	73723											
KIAA2026	158358	broad.mit.edu	37	chr9	5923143	5923143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgcttaactttgccttCttccttggagaaagctcttt	6	19	7	9	0	2	1	0	0	2	1	3	2	3	1	2	1	4	2	2	1	2	7			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:5923143C>T	ENST00000399933.3	-	8	2852	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K	KIAA2026_ENST00000381461.2_Silent_p.K921K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	951										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACTTTGCCTTCTTCCTTGGAG	0.388													16	149					0	0	0	0	T	5923143	C	T	5923143	2	4	383	1	0	0	0	0	0	0	0	1	8321	912	32	2		2	KIAA2026	9	5923143	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		5923143	135290288	59	73724											
SVEP1	79987	broad.mit.edu	37	chr9	113169875	113169875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtttgatgaatgtgtagCaggagactcctttgtatttt	11	16	10	4	0	0	3	0	2	0	1	1	4	1	3	1	1	1	4	1	1	4	6			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:113169875C>T	ENST00000401783.2	-	38	8341	c.8005G>A	c.(8005-8007)Gct>Act	p.A2669T	SVEP1_ENST00000297826.5_Missense_Mutation_p.A595T|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2646T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2669	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAATGTGTAGCAGGAGACTCC	0.453													56	195					0	0	0	0	T	113169875	C	T	113169875	3	4	383	1	0	0	0	0	1	0	0	0	15510	710	25	4	2754	4	SVEP1	9	113169875	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	107246732	113169875	28043556	60	73725											
SVEP1	79987	broad.mit.edu	37	chr9	113171187	113171187	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgacttatagcccgggttAcactgatacctcacttcact	10	12	6	13	1	2	2	2	2	0	0	2	2	2	2	2	1	3	1	2	1	4	5			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:113171187A>G	ENST00000401783.2	-	38	7029	c.6693T>C	c.(6691-6693)tgT>tgC	p.C2231C	SVEP1_ENST00000297826.5_Silent_p.C157C|SVEP1_ENST00000374469.1_Silent_p.C2208C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2231	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGCCCGGGTTACACTGATACC	0.473													28	132					0	0	0	0	G	113171187	A	G	113171187	2	3	383	1	0	0	0	0	0	0	0	1	15510	389	14	5		5	SVEP1	9	113171187	Silent	SNP	A	TCGA-DQ-5624-01A-01D-1870-08	1312	113171187	28042244	61	73726											
CDNF	441549	broad.mit.edu	37	chr10	14862117	14862117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttcagctctgccactctCatcttccgcaggtcaactga	7	12	7	15	1	5	1	3	1	3	0	7	1	6	1	2	1	4	3	2	1	1	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:14862117C>T	ENST00000378442.1	-	6	623	c.120G>A	c.(118-120)atG>atA	p.M40I	CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor	142						extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						CTGCCACTCTCATCTTCCGCA	0.443													25	101					0	0	0	0	T	14862117	C	T	14862117	3	4	383	1	0	0	0	0	1	0	0	0	3197	826	29	2	141	2	CDNF	10	14862117	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		14862117	120672630	62	73727											
GAD2	2572	broad.mit.edu	37	chr10	26575364	26575364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctatgacactggagacaagGccttacagtgcggacgccac	11	6	11	13	2	0	2	0	1	0	1	0	4	0	3	3	3	2	0	3	3	3	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:26575364G>A	ENST00000376261.3	+	13	1830	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	GAD2_ENST00000259271.3_Missense_Mutation_p.A443T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	443					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			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)	TGGAGACAAGGCCTTACAGTG	0.438													23	60					0	0	0	0	A	26575364	G	A	26575364	3	1	383	1	0	0	0	0	1	0	0	0	6228	1203	42	4	1377	4	GAD2	10	26575364	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	11713247	26575364	108959383	63	73728											
SEMA4G	57715	broad.mit.edu	37	chr10	102737432	102737432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcctgcagcggctcaattCtacccacctctatgcatgtg	7	12	8	14	1	3	0	1	0	2	0	4	0	4	0	3	1	4	4	3	1	3	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:102737432C>T	ENST00000210633.3	+	4	458	c.380C>T	c.(379-381)tCt>tTt	p.S127F	SEMA4G_ENST00000370250.4_Missense_Mutation_p.S127F|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.S127F			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	127	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGGCTCAATTCTACCCACCTC	0.557													18	86					0	0	0	0	T	102737432	C	T	102737432	3	4	383	1	0	0	0	0	1	0	0	0	14123	913	32	2	394	2	SEMA4G	10	102737432	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	76162068	102737432	32797315	64	73729											
NOLC1	9221	broad.mit.edu	37	chr10	103917061	103917061	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgaggaggaggaggaagttCaagggcctccagcaaagaag	14	3	17	7	1	1	1	1	0	0	1	2	6	2	5	2	5	1	2	2	5	4	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:103917061C>T	ENST00000405356.1	+	3	527	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	NOLC1_ENST00000488254.2_Nonsense_Mutation_p.Q99*|NOLC1_ENST00000605788.1_Nonsense_Mutation_p.Q98*|NOLC1_ENST00000603742.1_Intron			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	98	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGAGGAAGTTCAAGGGCCTCC	0.517													6	45					0	0	0	0	T	103917061	C	T	103917061	4	4	383	1	0	0	0	0	0	1	0	0	10599	827	29	2	302	2	NOLC1	10	103917061	Nonsense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	1179629	103917061	31617686	65	73730											
OR51A2	401667	broad.mit.edu	37	chr11	4976751	4976751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacatagccaacatggaaaGaaaatagtacatgggcccat	17	7	9	8	0	0	2	0	1	0	1	0	3	0	3	2	2	3	1	2	2	7	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:4976751G>C	ENST00000380371.1	-	1	192	c.193C>G	c.(193-195)Ctt>Gtt	p.L65V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACATGGAAAGAAAATAGTAC	0.438													10	68					0	0	0	0	C	4976751	G	C	4976751	3	2	383	1	0	0	0	0	1	0	0	0	11157	942	33	2	750	2	OR51A2	11	4976751	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08		4976751	130029765	66	73731											
OR52A5	390054	broad.mit.edu	37	chr11	5153246	5153246	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatattatgtcaaaccctagGattgcaaaggcaacaaatag	18	9	7	7	0	1	0	1	0	0	0	1	1	1	1	1	2	3	2	1	2	9	5			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:5153246G>T	ENST00000307388.1	-	1	626	c.627C>A	c.(625-627)atC>atA	p.I209I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAACCCTAGGATTGCAAAGG	0.418													7	53					2.0095e-06	2.15618e-06	1	0	T	5153246	G	T	5153246	2	4	383	1	0	0	0	0	0	0	0	1	11181	1164	41	2		2	OR52A5	11	5153246	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	176495	5153246	129853270	67	73732											
SSRP1	6749	broad.mit.edu	37	chr11	57099146	57099146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggaggttctcacctctCaatgctgctgaaggtatact	9	12	11	9	0	2	1	2	1	2	0	4	2	2	2	1	4	3	4	1	4	4	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:57099146C>G	ENST00000278412.2	-	9	1485	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	407					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTCACCTCTCAATGCTGCTG	0.532													8	41					0	0	0	0	G	57099146	C	G	57099146	3	3	383	1	0	0	0	0	1	0	0	0	15284	835	29	2	946	2	SSRP1	11	57099146	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	51945900	57099146	77907370	68	73733											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020920	73020920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtaggggttctgggggcTggggcgtgtaccgctcccct	3	10	17	11	2	1	0	0	0	1	0	2	0	2	0	3	6	1	5	3	6	3	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:73020920T>C	ENST00000263674.3	+	1	1587	c.1237T>C	c.(1237-1239)Tgg>Cgg	p.W413R		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	413					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTCTGGGGGCTGGGGCGTGTA	0.652													6	42					0	0	0	0	C	73020920	T	C	73020920	3	2	383	1	0	0	0	0	1	0	0	0	902	1580	55	5	1239	5	ARHGEF17	11	73020920	Missense_Mutation	SNP	T	TCGA-DQ-5624-01A-01D-1870-08	15921774	73020920	61985596	69	73734											
USP35	57558	broad.mit.edu	37	chr11	77924770	77924770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcactgggggaggggctttGatgaagacaaggatgaggat	11	7	18	5	1	0	4	0	3	0	1	0	7	0	7	0	6	0	2	0	6	2	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:77924770G>C	ENST00000529308.1	+	11	3229	c.2968G>C	c.(2968-2970)Gat>Cat	p.D990H	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D721H|USP35_ENST00000441408.2_Missense_Mutation_p.D576H|USP35_ENST00000530267.1_Missense_Mutation_p.D558H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	990					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GAGGGGCTTTGATGAAGACAA	0.587													5	51					0	0	0	0	C	77924770	G	C	77924770	3	2	383	1	0	0	0	0	1	0	0	0	17162	1290	45	2	3006	2	USP35	11	77924770	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	4903850	77924770	57081746	70	73735											
OR10G4	390264	broad.mit.edu	37	chr11	123887072	123887072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgaggccaggctccaTggatgccatggatggagttg	8	11	14	8	0	1	1	0	1	1	0	2	4	2	4	3	5	1	2	3	5	1	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:123887072T>C	ENST00000320891.4	+	1	791	c.791T>C	c.(790-792)aTg>aCg	p.M264T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAGGCTCCATGGATGCCATG	0.517													18	55					0	0	0	0	C	123887072	T	C	123887072	3	2	383	1	0	0	0	0	1	0	0	0	10972	1464	51	5	793	5	OR10G4	11	123887072	Missense_Mutation	SNP	T	TCGA-DQ-5624-01A-01D-1870-08	45962302	123887072	11119444	71	73736											
FGD4	121512	broad.mit.edu	37	chr12	32793362	32793362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactgaagcagaagtggctGaaagtcatccttttagctgt	12	11	11	7	0	1	3	1	2	0	1	2	4	2	3	1	1	3	3	1	1	5	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:32793362G>A	ENST00000427716.2	+	17	2620	c.2196G>A	c.(2194-2196)ctG>ctA	p.L732L	FGD4_ENST00000534526.2_Silent_p.L869L|FGD4_ENST00000546442.1_Silent_p.L639L|FGD4_ENST00000531134.1_Silent_p.L817L|FGD4_ENST00000525053.1_Silent_p.L844L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	732	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGAAGTGGCTGAAAGTCATCC	0.493													5	67					0	0	0	0	A	32793362	G	A	32793362	2	1	383	1	0	0	0	0	0	0	0	1	5880	1277	45	2		2	FGD4	12	32793362	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08		32793362	101058533	72	73737											
LRRK2	120892	broad.mit.edu	37	chr12	40704384	40704384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agattaccactttgtgaatgCcaccgaggaatctgatgctt	11	12	9	9	1	1	3	0	2	1	1	1	5	1	4	3	1	3	1	3	1	3	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:40704384C>T	ENST00000298910.7	+	31	4527	c.4469C>T	c.(4468-4470)gCc>gTc	p.A1490V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1490	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGTGAATGCCACCGAGGAA	0.433													4	171					0	0	0	0	T	40704384	C	T	40704384	3	4	383	1	0	0	0	0	1	0	0	0	9097	739	26	4	4591	4	LRRK2	12	40704384	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	7911022	40704384	93147511	73	73738											
HNRNPA1	3178	broad.mit.edu	37	chr12	54675202	54675202	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgaacagctgaggaagctCttcattggagggttgagctt	9	10	13	9	1	2	2	1	2	1	0	2	5	2	4	1	3	4	4	1	3	2	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:54675202C>G	ENST00000546500.1	+	2	663	c.48C>G	c.(46-48)ctC>ctG	p.L16L	HNRNPA1_ENST00000547276.1_Silent_p.L16L|HNRNPA1_ENST00000340913.6_Silent_p.L16L|HNRNPA1_ENST00000330752.8_Silent_p.L16L|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	16	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGAGGAAGCTCTTCATTGGAG	0.493													9	91					0	0	0	0	G	54675202	C	G	54675202	2	3	383	1	0	0	0	0	0	0	0	1	7307	900	32	2		2	HNRNPA1	12	54675202	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	13970818	54675202	79176693	74	73739											
CNPY2	10330	broad.mit.edu	37	chr12	56704786	56704786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttaacattgtcagcctctCgggaaaagaattcaatgagt	13	12	8	8	1	3	2	2	1	1	1	4	3	3	3	1	1	2	0	1	1	5	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:56704786C>T	ENST00000273308.4	-	5	1001	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R154Q|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	154	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding	p.R154Q(1)		large_intestine(2)|lung(2)	4						GTCAGCCTCTCGGGAAAAGAA	0.478													7	106					0	0	0	0	T	56704786	C	T	56704786	3	4	383	1	0	0	0	0	1	0	0	0	3658	884	31	1	95	1	CNPY2	12	56704786	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	2029584	56704786	77147109	75	73740											
C12orf50	160419	broad.mit.edu	37	chr12	88420320	88420320	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtttgctgtgataaaaGatacagctgatcttcacaca	13	11	9	8	1	2	3	1	2	1	1	2	4	2	3	0	1	3	3	0	1	3	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:88420320G>T	ENST00000298699.2	-	3	258	c.78C>A	c.(76-78)atC>atA	p.I26I	C12orf50_ENST00000550553.1_Silent_p.I26I	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	26										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGTGATAAAAGATACAGCTGA	0.363													6	39					0.0215528	0.0220018	1	0	T	88420320	G	T	88420320	2	4	383	1	0	0	0	0	0	0	0	1	1707	932	33	2		2	C12orf50	12	88420320	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	31715534	88420320	45431575	76	73741											
MYCBP2	23077	broad.mit.edu	37	chr13	77759426	77759426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgcagtgatcaactccttCtgataaaatttttcttaaca	13	15	4	9	0	3	2	1	2	2	0	4	2	4	2	1	0	3	1	1	0	4	5			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:77759426C>G	ENST00000407578.2	-	32	4797	c.4531G>C	c.(4531-4533)Gaa>Caa	p.E1511Q	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1473Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1473Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAACTCCTTCTGATAAAATT	0.378													14	366					0	0	0	0	G	77759426	C	G	77759426	3	3	383	1	0	0	0	0	1	0	0	0	10088	922	32	2	9713	2	MYCBP2	13	77759426	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		77759426	37410452	77	73742											
SCEL	8796	broad.mit.edu	37	chr13	78214885	78214885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaaaatgattttagatgAattacaaatttgctgccatt	16	15	5	5	0	0	3	0	2	0	1	0	3	0	3	1	0	4	1	1	0	7	6			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:78214885A>G	ENST00000535157.1	+	29	1957	c.1787A>G	c.(1786-1788)gAa>gGa	p.E596G	SCEL_ENST00000377246.3_Missense_Mutation_p.E618G|SCEL_ENST00000349847.3_Missense_Mutation_p.E638G	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	638					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATTTTAGATGAATTACAAATT	0.279													7	93					0	0	0	0	G	78214885	A	G	78214885	3	3	383	1	0	0	0	0	1	0	0	0	13974	246	9	5	2031	5	SCEL	13	78214885	Missense_Mutation	SNP	A	TCGA-DQ-5624-01A-01D-1870-08	455459	78214885	36954993	78	73743											
CARKD	55739	broad.mit.edu	37	chr13	111287916	111287916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagaaaggagagcgcgacatCctctccaacggccagcaggg	12	3	13	13	3	1	2	0	0	1	2	3	4	2	2	3	3	3	1	3	3	2	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:111287916C>G	ENST00000309957.2	+	8	767	c.753C>G	c.(751-753)atC>atG	p.I251M	CARKD_ENST00000458711.2_Missense_Mutation_p.I120M|CARKD_ENST00000424185.2_Missense_Mutation_p.I141M|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	251	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AGCGCGACATCCTCTCCAACG	0.622													4	52					0	0	0	0	G	111287916	C	G	111287916	3	3	383	1	0	0	0	0	1	0	0	0	2679	845	30	2	783	2	CARKD	13	111287916	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	33073031	111287916	3881962	79	73744											
SOS2	6655	broad.mit.edu	37	chr14	50655318	50655318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttctgcgatttcagttCtgacaagatcatagtagttt	9	18	7	7	1	5	2	2	1	3	1	5	3	5	2	0	0	1	3	0	0	3	7			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:50655318C>G	ENST00000216373.5	-	5	885	c.611G>C	c.(610-612)aGa>aCa	p.R204T	SOS2_ENST00000543680.1_Missense_Mutation_p.R204T	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	204	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GATTTCAGTTCTGACAAGATC	0.358													7	38					0	0	0	0	G	50655318	C	G	50655318	3	3	383	1	0	0	0	0	1	0	0	0	15025	913	32	2	3463	2	SOS2	14	50655318	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		50655318	56694222	80	73745											
CCNK	8812	broad.mit.edu	37	chr14	99959906	99959906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatcgcttctatatgtttCattccttcaagcaattccca	9	17	3	12	1	4	0	3	0	1	0	7	0	6	0	2	0	1	3	2	0	4	8			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:99959906C>T	ENST00000389879.5	+	3	376	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	CCNK_ENST00000555049.1_Missense_Mutation_p.H85Y|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	85					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CTATATGTTTCATTCCTTCAA	0.318													8	70					0	0	0	0	T	99959906	C	T	99959906	3	4	383	1	0	0	0	0	1	0	0	0	2959	826	29	2	259	2	CCNK	14	99959906	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	49304588	99959906	7389634	81	73746											
DYNC1H1	1778	broad.mit.edu	37	chr14	102449517	102449517	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacacaaaatatcctattCagagggcactgcgtttggtg	13	10	10	8	1	1	1	1	0	0	1	2	2	2	1	1	2	2	2	1	2	5	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:102449517C>T	ENST00000360184.4	+	6	1287	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	375	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATATCCTATTCAGAGGGCACT	0.418													10	58					0	0	0	0	T	102449517	C	T	102449517	4	4	383	1	0	0	0	0	0	1	0	0	4877	827	29	2	1145	2	DYNC1H1	14	102449517	Nonsense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	2489611	102449517	4900023	82	73747											
ADSSL1	122622	broad.mit.edu	37	chr14	105208279	105208279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacataggtgacgtgtatggCgtggtgaaagcctataccac	12	9	12	8	2	0	2	0	2	0	0	0	2	0	2	2	3	3	1	2	3	6	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:105208279C>T	ENST00000332972.5	+	9	1176	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	ADSSL1_ENST00000330877.2_Silent_p.G296G	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	296					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	ACGTGTATGGCGTGGTGAAAG	0.637													4	99					0	0	0	0	T	105208279	C	T	105208279	2	4	383	1	0	0	0	0	0	0	0	1	348	755	27	1		1	ADSSL1	14	105208279	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	2758762	105208279	2141261	83	73748											
EXD1	161829	broad.mit.edu	37	chr15	41476734	41476734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcagctttctccctgcGctgcttctggaagtccttga	4	15	9	13	1	3	1	0	1	3	0	5	2	4	2	2	1	4	4	2	1	1	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr15:41476734G>A	ENST00000314992.5	-	10	1130	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	EXD1_ENST00000458580.2_Missense_Mutation_p.R372C	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	314					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTCCCTGCGCTGCTTCTGG	0.453													24	65					0	0	0	0	A	41476734	G	A	41476734	3	1	383	1	0	0	0	0	1	0	0	0	5334	1087	38	1	608	1	EXD1	15	41476734	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08		41476734	61054658	84	73749											
OAZ2	4947	broad.mit.edu	37	chr15	64982656	64982656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggactgcatcccaagaagaGaccttcacctcggtgacctc	11	7	9	14	1	1	3	1	1	0	2	4	5	2	4	4	2	1	1	4	2	2	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr15:64982656G>A	ENST00000326005.6	-	4	502	c.270C>T	c.(268-270)gtC>gtT	p.V90V	OAZ2_ENST00000560258.2_Silent_p.V90V|OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560837.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	90					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	CCCAAGAAGAGACCTTCACCT	0.507													21	104					0	0	0	0	A	64982656	G	A	64982656	2	1	383	1	0	0	0	0	0	0	0	1	10876	929	33	2		2	OAZ2	15	64982656	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	23505922	64982656	37548736	85	73750											
CLDN9	9080	broad.mit.edu	37	chr16	3063730	3063730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatcgtgctcaccgcggggGtcatcctcctcctcgccggc	3	9	12	17	5	2	0	2	0	0	0	7	0	5	0	5	3	1	2	5	3	1	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:3063730G>C	ENST00000445369.2	+	1	1274	c.367G>C	c.(367-369)Gtc>Ctc	p.V123L		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	123					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CACCGCGGGGGTCATCCTCCT	0.657													13	85					0	0	0	0	C	3063730	G	C	3063730	3	2	383	1	0	0	0	0	1	0	0	0	3522	1261	44	4	369	4	CLDN9	16	3063730	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08		3063730	87291023	86	73751											
MEFV	4210	broad.mit.edu	37	chr16	3304457	3304457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggagctggcgtttctgCgcagccggacctcggcctgg	3	7	16	15	6	1	0	0	0	1	0	2	2	1	2	4	5	3	3	4	5	0	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:3304457C>T	ENST00000219596.1	-	2	650	c.611G>A	c.(610-612)cGc>cAc	p.R204H	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	204					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCGTTTCTGCGCAGCCGGAC	0.766													4	27					0	0	0	0	T	3304457	C	T	3304457	3	4	383	1	0	0	0	0	1	0	0	0	9528	768	27	1	1770	1	MEFV	16	3304457	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	240727	3304457	87050296	87	73752											
CDH8	1006	broad.mit.edu	37	chr16	62055210	62055210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattaaaacttgagactgaTtcatcggagccatgtaaatg	14	12	8	7	1	2	2	2	2	0	1	3	4	2	3	1	1	2	1	1	1	4	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:62055210T>C	ENST00000577390.1	-	2	1052	c.98A>G	c.(97-99)aAt>aGt	p.N33S	CDH8_ENST00000577730.1_Missense_Mutation_p.N33S|CDH8_ENST00000299345.6_Missense_Mutation_p.N33S|CDH8_ENST00000584337.1_Missense_Mutation_p.N33S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	33					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGAGACTGATTCATCGGAGC	0.443													14	68					0	0	0	0	C	62055210	T	C	62055210	3	2	383	1	0	0	0	0	1	0	0	0	3145	1493	52	5	2345	5	CDH8	16	62055210	Missense_Mutation	SNP	T	TCGA-DQ-5624-01A-01D-1870-08	58750753	62055210	28299543	88	73753											
NLRP1	22861	broad.mit.edu	37	chr17	5462454	5462454	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggccagccaggacaccCagggcacaagacacagggcc	12	1	13	15	0	0	1	0	0	0	1	0	2	0	2	4	4	2	2	4	4	1	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:5462454C>T	ENST00000345221.3	-	4	2116	c.1562G>A	c.(1561-1563)tGg>tAg	p.W521*	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.W521*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.W521*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.W521*|NLRP1_ENST00000572272.1_Nonsense_Mutation_p.W521*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.W521*	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	521	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAGGACACCCAGGGCACAAG	0.478													7	94					0	0	0	0	T	5462454	C	T	5462454	4	4	383	1	0	0	0	0	0	1	0	0	10541	595	21	4	2990	4	NLRP1	17	5462454	Nonsense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		5462454	75732756	89	73754											
TP53	7157	broad.mit.edu	37	chr17	7578183	7578184	+	Frame_Shift_Ins	INS	-	-	GGCT																															ttgcaaaccagacctcaggcINSggctcatagggcaccaccac																								rs72661118		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:7578183_7578184insGGCT	ENST00000420246.2	-	6	797_798	c.665_666insAGCC	c.(664-666)cccfs	p.-221fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.-221fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.-221fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.-221fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.-221fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.-221fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223fs*1(3)|p.Y220_P223delYEPP(1)|p.P130fs*1(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.P222Q(1)|p.P222fs*24(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)		AGACCTCAGGCGGCTCATAGGG	0.554		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)			7	14	---	---	---	---					GGCT	7578184	-	GGCT	7578183	7	5	383	1	0	1	1	0	0	0	0	0	16476	755	27	0	628	0	TP53	17	7578183	Frame_Shift_Ins	INS	-	TCGA-DQ-5624-01A-01D-1870-08	2115729	7578183	73617027	90	73755											
MYH10	4628	broad.mit.edu	37	chr17	8383453	8383453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcctgctcaagctgctcctCcagctgcccaatcttggcct	5	12	7	17	0	2	0	1	0	1	0	5	0	5	0	5	1	5	4	5	1	2	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:8383453C>G	ENST00000360416.3	-	40	5710	c.5572G>C	c.(5572-5574)Gag>Cag	p.E1858Q	MYH10_ENST00000269243.4_Missense_Mutation_p.E1827Q|NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Missense_Mutation_p.E1848Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1843Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1827					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGCTGCTCCTCCAGCTGCCCA	0.522													6	92					0	0	0	0	G	8383453	C	G	8383453	3	3	383	1	0	0	0	0	1	0	0	0	10100	864	30	2	467	2	MYH10	17	8383453	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	805270	8383453	72811757	91	73756											
DNAH9	1770	broad.mit.edu	37	chr17	11573107	11573107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttgtggaccacgtcactCacaggtacaacagttgtttt	10	13	8	10	1	3	0	2	0	1	0	3	1	3	1	1	2	2	3	1	2	2	5			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:11573107C>T	ENST00000262442.3	+	17	3417	c.3349C>T	c.(3349-3351)Cac>Tac	p.H1117Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.H1117Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1117	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACGTCACTCACAGGTACAA	0.408													13	122					0	0	0	0	T	11573107	C	T	11573107	3	4	383	1	0	0	0	0	1	0	0	0	4644	826	29	2	3415	2	DNAH9	17	11573107	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	3189654	11573107	69622103	92	73757											
OR4D2	124538	broad.mit.edu	37	chr17	56247069	56247069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctttgtcttcctggggctctCgcagactcgggagctccagc	4	11	12	14	2	2	1	0	0	2	1	6	2	4	2	2	3	2	3	2	3	0	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:56247069C>G	ENST00000545221.1	+	1	53	c.53C>G	c.(52-54)tCg>tGg	p.S18W		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTGGGGCTCTCGCAGACTCGG	0.468													11	89					0	0	0	0	G	56247069	C	G	56247069	3	3	383	1	0	0	0	0	1	0	0	0	11127	893	31	3	55	3	OR4D2	17	56247069	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	44673962	56247069	24948141	93	73758											
ACE	1636	broad.mit.edu	37	chr17	61573862	61573862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctaccagtccaaggaggCcgggcagcgcctggcgtgag	8	5	15	13	3	1	1	0	1	1	0	2	2	2	2	4	4	2	1	4	4	2	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:61573862C>T	ENST00000577647.1	+	12	1811	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	ACE_ENST00000290866.4_Missense_Mutation_p.A1163V|ACE_ENST00000290863.6_Missense_Mutation_p.A589V|ACE_ENST00000490216.2_Missense_Mutation_p.A589V|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Intron			P12821	ACE_HUMAN	angiotensin I converting enzyme	1163	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCCAAGGAGGCCGGGCAGCGC	0.627													5	41					0	0	0	0	T	61573862	C	T	61573862	3	4	383	1	0	0	0	0	1	0	0	0	136	739	26	4	3781	4	ACE	17	61573862	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	5326793	61573862	19621348	94	73759											
BPTF	2186	broad.mit.edu	37	chr17	65888058	65888058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaatcatcaccagattgCggaatccagatagcaaactt	14	9	7	11	2	2	2	2	0	0	2	4	4	3	3	2	1	3	1	2	1	4	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:65888058C>T	ENST00000321892.4	+	7	2402	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	BPTF_ENST00000335221.5_Missense_Mutation_p.R781W|BPTF_ENST00000306378.6_Missense_Mutation_p.R655W|BPTF_ENST00000424123.3_Missense_Mutation_p.R642W			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	781					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACCAGATTGCGGAATCCAGA	0.478													9	21					0	0	0	0	T	65888058	C	T	65888058	3	4	383	1	0	0	0	0	1	0	0	0	1503	759	27	1	2367	1	BPTF	17	65888058	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	4314196	65888058	15307152	95	73760											
TMEM104	54868	broad.mit.edu	37	chr17	72832494	72832494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagacactcttccaccgcGagggcggcacgtacccgtgg	8	5	14	14	5	1	1	0	0	1	1	2	3	2	2	3	4	1	2	3	4	2	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:72832494G>A	ENST00000335464.5	+	10	1321	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.E387K|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	387						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTTCCACCGCGAGGGCGGCAC	0.632													4	104					0	0	0	0	A	72832494	G	A	72832494	3	1	383	1	0	0	0	0	1	0	0	0	16112	1059	37	1	1193	1	TMEM104	17	72832494	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	6944436	72832494	8362716	96	73761											
ZFR2	23217	broad.mit.edu	37	chr19	3823275	3823275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccgggcccaccggctgcGcatcagagcagcccgcggga	7	4	14	16	5	1	1	1	0	0	1	2	2	2	2	4	3	3	3	4	3	0	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:3823275G>A	ENST00000262961.4	-	8	1350	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	447						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CACCGGCTGCGCATCAGAGCA	0.617													40	68					0	0	0	0	A	3823275	G	A	3823275	3	1	383	1	0	0	0	0	1	0	0	0	17755	1087	38	1	1527	1	ZFR2	19	3823275	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08		3823275	55305708	97	73762											
SAFB	6294	broad.mit.edu	37	chr19	5667168	5667168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggccgggggctgcctcctCcccccaggtttgtgtcccac	3	8	13	17	1	0	0	0	0	0	0	3	0	3	0	7	4	1	2	7	4	0	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:5667168C>G	ENST00000292123.5	+	18	2553	c.2446C>G	c.(2446-2448)Ccc>Gcc	p.P816A	SAFB_ENST00000454510.1_Missense_Mutation_p.P747A|SAFB_ENST00000592224.1_Missense_Mutation_p.P815A|SAFB_ENST00000433404.1_Missense_Mutation_p.P646A|SAFB_ENST00000588852.1_Missense_Mutation_p.P816A|SAFB_ENST00000538656.1_Missense_Mutation_p.P658A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	816	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCTGCCTCCTCCCCCCAGGTT	0.697													3	22					0	0	0	0	G	5667168	C	G	5667168	3	3	383	1	0	0	0	0	1	0	0	0	13891	855	30	2	2516	2	SAFB	19	5667168	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	1843893	5667168	53461815	98	73763											
CLEC4M	10332	broad.mit.edu	37	chr19	7830511	7830511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taataattgcagttccttttCttcttggcccagtgtccaag	8	16	7	10	0	2	0	0	0	2	0	4	0	4	0	3	1	1	2	3	1	3	8			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:7830511C>T	ENST00000359059.5	+	3	257	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.L47F|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.L47F	NM_001144906.1|NM_001144907.1	NP_001138378.1|NP_001138379.1	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	68					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						agttcCTTTTCTTCTTGGCCC	0.502													3	79					0	0	0	0	T	7830511	C	T	7830511	3	4	383	1	0	0	0	0	1	0	0	0	3548	913	32	2	237	2	CLEC4M	19	7830511	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	2163343	7830511	51298472	99	73764											
ADAMTS10	81794	broad.mit.edu	37	chr19	8656945	8656945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggctccgtccacaccctCtgggcgcgacccaaagggga	8	4	12	17	3	1	0	0	0	1	0	3	2	3	1	5	4	0	1	5	4	1	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:8656945C>G	ENST00000270328.4	-	13	1896	c.1630G>C	c.(1630-1632)Gag>Cag	p.E544Q	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E544Q|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.Q34H			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	544	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCACACCCTCTGGGCGCGAC	0.687													3	19					0	0	0	0	G	8656945	C	G	8656945	3	3	383	1	0	0	0	0	1	0	0	0	256	922	32	2	1733	2	ADAMTS10	19	8656945	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	826434	8656945	50472038	100	73765											
RYR1	6261	broad.mit.edu	37	chr19	38951142	38951142	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccatcaaggagtatcgaCgggaggggccccgggggcct	9	4	16	12	3	1	0	1	0	0	0	2	3	1	2	4	6	1	1	4	6	3	1	rs142548565		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:38951142C>A	ENST00000355481.4	+	20	2619	c.2488C>A	c.(2488-2490)Cgg>Agg	p.R830R	RYR1_ENST00000359596.3_Silent_p.R830R|RYR1_ENST00000360985.3_Silent_p.R830R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	830					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R830W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGTATCGACGGGAGGGGCC	0.632													16	112					6.72482e-11	7.26874e-11	1	0	A	38951142	C	A	38951142	2	1	383	1	0	0	0	0	0	0	0	1	13853	527	19	3		3	RYR1	19	38951142	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	30294197	38951142	20177841	101	73766											
RYR1	6261	broad.mit.edu	37	chr19	38985060	38985060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacttcgtgcagagccccGagctggtgcgggccatgttc	6	8	15	12	3	0	1	0	0	0	1	2	3	0	2	3	3	4	3	3	3	0	2	rs147197176		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:38985060G>A	ENST00000355481.4	+	39	6474	c.6343G>A	c.(6343-6345)Gag>Aag	p.E2115K	RYR1_ENST00000359596.3_Missense_Mutation_p.E2115K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2115K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2115	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGCCCCGAGCTGGTGCG	0.667													3	36					0	0	0	0	A	38985060	G	A	38985060	3	1	383	1	0	0	0	0	1	0	0	0	13853	1059	37	1	6497	1	RYR1	19	38985060	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	33918	38985060	20143923	102	73767											
NAPA	8775	broad.mit.edu	37	chr19	48018174	48018174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacagcgccatcgcctcCgcttccttcccggaattgtc	6	9	8	18	4	0	0	0	0	0	0	5	1	3	1	6	1	2	1	6	1	2	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:48018174C>T	ENST00000263354.3	-	1	323	c.24G>A	c.(22-24)gcG>gcA	p.A8A	NAPA_ENST00000593785.1_5'UTR|NAPA_ENST00000595227.1_Silent_p.A8A	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	8					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CCATCGCCTCCGCTTCCTTCC	0.652													16	18					0	0	0	0	T	48018174	C	T	48018174	2	4	383	1	0	0	0	0	0	0	0	1	10231	639	23	1		1	NAPA	19	48018174	Silent	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	9033114	48018174	11110809	103	73768											
MAVS	57506	broad.mit.edu	37	chr20	3844977	3844977	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccctggcccgttccAcccccagggcaagccgcttg	5	6	10	20	2	0	0	0	0	0	0	2	0	2	0	8	2	2	3	8	2	1	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:3844977A>C	ENST00000428216.2	+	6	828	c.700A>C	c.(700-702)Acc>Ccc	p.T234P	MAVS_ENST00000416600.2_Missense_Mutation_p.T93P|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	234					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCGTTCCACCCCCAGGGC	0.632													8	73					0	0	0	0	C	3844977	A	C	3844977	3	2	383	1	0	0	0	0	1	0	0	0	9407	159	6	5	718	5	MAVS	20	3844977	Missense_Mutation	SNP	A	TCGA-DQ-5624-01A-01D-1870-08		3844977	59180543	104	73769											
FITM2	128486	broad.mit.edu	37	chr20	42935537	42935537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtcttcacctcatgcaGcacagacatctcttctacaa	10	11	5	15	1	5	1	2	0	3	1	7	1	6	1	2	0	3	2	2	0	2	3			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:42935537G>A	ENST00000396825.3	-	2	537	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	173					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						ACCTCATGCAGCACAGACATC	0.557													3	38					0	0	0	0	A	42935537	G	A	42935537	2	1	383	1	0	0	0	0	0	0	0	1	5944	962	34	4		4	FITM2	20	42935537	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	39090560	42935537	20089983	105	73770											
TSHZ2	128553	broad.mit.edu	37	chr20	51871898	51871898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgagggcgattcttTccgcaaaagtgaaacacctc	12	8	9	12	2	1	2	0	2	1	0	3	3	2	2	3	1	1	1	3	1	3	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:51871898T>C	ENST00000371497.5	+	2	2788	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.F631S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.F631S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	634					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGCGATTCTTTCCGCAAAAGT	0.517													20	92					0	0	0	0	C	51871898	T	C	51871898	3	2	383	1	0	0	0	0	1	0	0	0	16719	1783	62	5	1907	5	TSHZ2	20	51871898	Missense_Mutation	SNP	T	TCGA-DQ-5624-01A-01D-1870-08	8936361	51871898	11153622	106	73771											
INPP5J	27124	broad.mit.edu	37	chr22	31529912	31529912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccccagatctcgctgccttCctcggagttggccagcagca	6	8	10	17	2	1	1	0	0	1	1	4	2	2	2	5	2	3	4	5	2	0	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:31529912C>T	ENST00000331075.5	+	13	2577	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	INPP5J_ENST00000405300.1_Missense_Mutation_p.S476F|INPP5J_ENST00000404390.3_Missense_Mutation_p.S475F|INPP5J_ENST00000402238.1_Missense_Mutation_p.S182F|INPP5J_ENST00000401755.1_Missense_Mutation_p.S208F|INPP5J_ENST00000400294.2_Missense_Mutation_p.S476F|INPP5J_ENST00000412277.2_Missense_Mutation_p.S776F|INPP5J_ENST00000404453.1_Missense_Mutation_p.S208F			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	843	Ser-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TCGCTGCCTTCCTCGGAGTTG	0.652													6	12					0	0	0	0	T	31529912	C	T	31529912	3	4	383	1	0	0	0	0	1	0	0	0	7812	855	30	2	1474	2	INPP5J	22	31529912	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		31529912	19774654	107	73772											
PACSIN2	11252	broad.mit.edu	37	chr22	43308053	43308053	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtcgctggacacttCtactccaacggaatcatcat	11	10	8	12	2	3	0	2	0	1	0	5	3	4	2	1	2	3	2	1	2	4	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:43308053C>A	ENST00000263246.3	-	2	235	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.E12*	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	12	FCH.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGGACACTTCTACTCCAACG	0.468													7	44					8.12818e-05	8.59599e-05	1	0	A	43308053	C	A	43308053	4	1	383	1	0	0	0	0	0	1	0	0	11446	922	32	2	1466	2	PACSIN2	22	43308053	Nonsense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	11778141	43308053	7996513	108	73773											
TTLL8	164714	broad.mit.edu	37	chr22	50479626	50479626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaccccacctgcctgtctCgggctgtggggggctcaaat	7	8	12	14	1	2	0	1	0	1	0	3	0	2	0	4	4	2	2	4	4	2	0			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:50479626C>T	ENST00000266182.6	-	8	910	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CTGCCTGTCTCGGGCTGTGGG	0.567													4	79					0	0	0	0	T	50479626	C	T	50479626	3	4	383	1	0	0	0	0	1	0	0	0	16829	884	31	1	1620	1	TTLL8	22	50479626	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	7171573	50479626	824940	109	73774											
GPR64	10149	broad.mit.edu	37	chrX	19014210	19014210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttccacaacaaagatacCgcctccattgcttcctgaca	12	10	4	15	1	0	2	0	1	0	1	3	2	3	2	5	0	3	1	5	0	3	4	rs142899178	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:19014210C>T	ENST00000354791.3	-	26	2868	c.2627G>A	c.(2626-2628)cGg>cAg	p.R876Q	GPR64_ENST00000356606.4_Missense_Mutation_p.R878Q|GPR64_ENST00000379876.1_Missense_Mutation_p.R868Q|GPR64_ENST00000340581.3_Missense_Mutation_p.R773Q|GPR64_ENST00000357544.3_Missense_Mutation_p.R862Q|GPR64_ENST00000360279.4_Missense_Mutation_p.R870Q|GPR64_ENST00000357991.3_Missense_Mutation_p.R889Q|GPR64_ENST00000379869.3_Missense_Mutation_p.R892Q|GPR64_ENST00000379873.2_Missense_Mutation_p.R892Q|GPR64_ENST00000379878.3_Missense_Mutation_p.R876Q			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	892					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					ACAAAGATACCGCCTCCATTG	0.363													20	186					0	0	0	0	T	19014210	C	T	19014210	3	4	383	1	0	0	0	0	1	0	0	0	6754	652	23	1	390	1	GPR64	23	19014210	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08		19014210	136256350	110	73775											
SAT1	6303	broad.mit.edu	37	chrX	23803921	23803921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccagtgaagagggttggaGactgttcaagatcgacaagg	12	8	15	6	1	1	4	1	1	0	3	3	6	2	4	1	3	0	2	1	3	3	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:23803921G>A	ENST00000379270.4	+	6	643	c.464G>A	c.(463-465)aGa>aAa	p.R155K	SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.R127K	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	155	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	GAGGGTTGGAGACTGTTCAAG	0.428													15	67					0	0	0	0	A	23803921	G	A	23803921	3	1	383	1	0	0	0	0	1	0	0	0	13937	942	33	2	486	2	SAT1	23	23803921	Missense_Mutation	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	4789711	23803921	131466639	111	73776											
HUWE1	10075	broad.mit.edu	37	chrX	53674496	53674496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcgaagcggtccaacaggtCcacccagtgatataactcgc	12	7	9	13	3	0	1	0	1	0	0	4	2	2	1	3	2	3	0	3	2	4	2			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:53674496C>T	ENST00000342160.3	-	5	623	c.166G>A	c.(166-168)Gac>Aac	p.D56N	HUWE1_ENST00000262854.6_Missense_Mutation_p.D56N|HUWE1_ENST00000218328.8_Missense_Mutation_p.D56N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	56					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAACAGGTCCACCCAGTGA	0.483													19	229					0	0	0	0	T	53674496	C	T	53674496	3	4	383	1	0	0	0	0	1	0	0	0	7514	855	30	2	13274	2	HUWE1	23	53674496	Missense_Mutation	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	29870575	53674496	101596064	112	73777											
NOX1	27035	broad.mit.edu	37	chrX	100117563	100117563	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtcacatactccactgtCtgtgaaaggagaaatgtcag	14	10	9	8	0	3	2	2	1	1	1	4	3	4	2	1	1	1	0	1	1	4	1			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:100117563C>T	ENST00000372966.3	-	6	695		c.e6-1		NOX1_ENST00000217885.5_Splice_Site|NOX1_ENST00000372960.4_Splice_Site|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1						angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACTCCACTGTCTGTGAAAGGA	0.463													28	240					0	0	0	0	T	100117563	C	T	100117563	5	4	383	1	0	0	0	0	0	0	1	0	10626	927	32	2	1237	2	NOX1	23	100117563	Splice_Site	SNP	C	TCGA-DQ-5624-01A-01D-1870-08	46443067	100117563	55152997	113	73778											
TEX13A	56157	broad.mit.edu	37	chrX	104464968	104464968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcccaggataaggatatAttctcaagatagaactcggg	13	11	9	8	1	2	2	1	0	2	2	5	4	2	4	1	3	1	0	1	3	6	6			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:104464968A>T	ENST00000372578.3	-	2	225	c.114T>A	c.(112-114)aaT>aaA	p.N38K	TEX13A_ENST00000413579.1_Missense_Mutation_p.N38K|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.N38K	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	38						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATAAGGATATATTCTCAAGAT	0.572													6	36					0	0	0	0	T	104464968	A	T	104464968	3	4	383	1	0	0	0	0	1	0	0	0	15870	446	16	5	1125	5	TEX13A	23	104464968	Missense_Mutation	SNP	A	TCGA-DQ-5624-01A-01D-1870-08	4347405	104464968	50805592	114	73779											
KIAA1210	57481	broad.mit.edu	37	chrX	118220567	118220567	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagatttgggcctgctctgTtgcttatctgcaacgtaaga	8	14	10	9	1	3	2	1	0	2	2	3	2	3	2	1	1	4	5	1	1	3	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:118220567T>C	ENST00000402510.2	-	11	4625	c.4626A>G	c.(4624-4626)caA>caG	p.Q1542Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1542										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCTGCTCTGTTGCTTATCTG	0.498													16	94					0	0	0	0	C	118220567	T	C	118220567	2	2	383	1	0	0	0	0	0	0	0	1	8265	1722	60	5		5	KIAA1210	23	118220567	Silent	SNP	T	TCGA-DQ-5624-01A-01D-1870-08	13755599	118220567	37049993	115	73780											
SLITRK2	84631	broad.mit.edu	37	chrX	144904513	144904513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccacttagacctcaggggGaataggctaaaagtaatgcc	14	7	10	10	0	1	1	1	0	0	1	1	2	1	2	3	3	1	2	3	3	6	4			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:144904513G>A	ENST00000370490.1	+	1	4825	c.570G>A	c.(568-570)ggG>ggA	p.G190G	SLITRK2_ENST00000434188.2_Silent_p.G190G|SLITRK2_ENST00000428560.2_Silent_p.G190G|SLITRK2_ENST00000413937.2_Silent_p.G190G|SLITRK2_ENST00000447897.2_Silent_p.G190G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	190						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCAGGGGGAATAGGCTAA	0.468													11	144					0	0	0	0	A	144904513	G	A	144904513	2	1	383	1	0	0	0	0	0	0	0	1	14831	1161	41	2		2	SLITRK2	23	144904513	Silent	SNP	G	TCGA-DQ-5624-01A-01D-1870-08	26683946	144904513	10366047	116	73781											
TMEM54	113452	broad.mit.edu	37	chr1	33360939	33360939	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttcccccaccagggcctCagctccagcagctggtgggt	5	9	11	16	0	1	0	1	0	0	0	3	0	3	0	5	3	3	3	5	3	0	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:33360939C>G	ENST00000373463.3	-	5	680	c.561G>C	c.(559-561)ctG>ctC	p.L187L	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.L134L	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	187						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGGCCTCAGCTCCAGCA	0.642													12	9					0	0	0	0	G	33360939	C	G	33360939	2	3	384	1	0	0	0	0	0	0	0	1	16274	813	29	2		2	TMEM54	1	33360939	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08		33360939	215889682	1	73782											
HIVEP3	59269	broad.mit.edu	37	chr1	42047150	42047150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggccccaatgggggcctgtCctgccctgggcccttgcctc	2	8	14	17	0	0	0	0	0	0	0	2	0	1	0	7	4	2	0	7	4	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:42047150C>T	ENST00000372584.1	-	3	4333	c.3319G>A	c.(3319-3321)Gac>Aac	p.D1107N	HIVEP3_ENST00000372583.1_Missense_Mutation_p.D1107N|HIVEP3_ENST00000429157.2_Missense_Mutation_p.D1107N|HIVEP3_ENST00000247584.5_Missense_Mutation_p.D1107N	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1107					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGCCTGTCCTGCCCTGGG	0.622													48	38					0	0	0	0	T	42047150	C	T	42047150	3	4	384	1	0	0	0	0	1	0	0	0	7238	855	30	2	3925	2	HIVEP3	1	42047150	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	8686211	42047150	207203471	2	73783											
HIVEP3	59269	broad.mit.edu	37	chr1	42048048	42048048	+	Frame_Shift_Del	DEL	C	C	-																															tgctcgagagaatcagatttCtcaaaggagctggtgtgctg																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:42048048delC	ENST00000372584.1	-	3	3435	c.2421delG	c.(2419-2421)gafs	p.E807fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E807fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.E807fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E807fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	807	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AATCAGATTTCTCAAAGGAGC	0.562													61	56	---	---	---	---					-	42048048	C	-	42048048	7	5	384	1	0	1	0	1	0	0	0	0	7238	912	32	0	4823	0	HIVEP3	1	42048048	Frame_Shift_Del	DEL	C	TCGA-DQ-5625-01A-01D-1870-08	898	42048048	207202573	3	73784											
ZFYVE9	9372	broad.mit.edu	37	chr1	52704848	52704848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccaagcaaccttctaatCttaaacttcaaattccaaag	16	10	3	12	0	3	0	1	0	2	0	4	1	4	0	3	0	3	1	3	0	7	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:52704848C>A	ENST00000287727.3	+	4	1931	c.1759C>A	c.(1759-1761)Ctt>Att	p.L587I	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L587I|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.L587I|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L587I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	587					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACCTTCTAATCTTAAACTTCA	0.388													35	27					1.22384e-17	1.31266e-17	1	0	A	52704848	C	A	52704848	3	1	384	1	0	0	0	0	1	0	0	0	17766	913	32	2	1765	2	ZFYVE9	1	52704848	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	10656800	52704848	196545773	4	73785											
LINGO4	339398	broad.mit.edu	37	chr1	151774265	151774265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcatgcccctgacaggcGtagctcctggagccgcacca	8	5	13	15	2	0	1	0	1	0	0	1	3	1	2	5	3	3	4	5	3	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:151774265G>A	ENST00000368820.3	-	2	1853	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	306						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGACAGGCGTAGCTCCTGG	0.612													10	55					0	0	0	0	A	151774265	G	A	151774265	3	1	384	1	0	0	0	0	1	0	0	0	8872	1145	40	1	869	1	LINGO4	1	151774265	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	99069417	151774265	97476356	5	73786											
RPTN	126638	broad.mit.edu	37	chr1	152128885	152128885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgaattggtttttcacaCcgatttaaggcaaagatatg	12	14	8	7	1	1	2	1	1	0	1	2	3	2	2	2	2	0	2	2	2	4	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:152128885C>T	ENST00000316073.3	-	3	754	c.690G>A	c.(688-690)cgG>cgA	p.R230R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	230	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTTTTTCACACCGATTTAAGG	0.418													81	173					0	0	0	0	T	152128885	C	T	152128885	2	4	384	1	0	0	0	0	0	0	0	1	13749	494	18	4		4	RPTN	1	152128885	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	354620	152128885	97121736	6	73787											
HMCN1	83872	broad.mit.edu	37	chr1	185815158	185815158	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatttttatcttcacagAaattggcccagtgacaatta	12	16	6	7	0	2	2	1	1	1	1	2	2	2	2	1	1	0	1	1	1	5	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:185815158A>T	ENST00000271588.4	+	2	498	c.268_splice	c.e2-1	p.E90_splice	HMCN1_ENST00000367492.2_Splice_Site_p.E90_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	90	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTTCACAGAAATTGGCCCA	0.363													6	44					0	0	0	0	T	185815158	A	T	185815158	5	4	384	1	0	0	0	0	0	0	1	0	7270	260	9	5	275	5	HMCN1	1	185815158	Splice_Site	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	33686273	185815158	63435463	7	73788											
HMCN1	83872	broad.mit.edu	37	chr1	186084057	186084057	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggaacagatcgcaggCgaatagatttacaggtccat	12	9	11	9	2	0	2	0	0	0	2	2	4	1	3	1	3	3	2	1	3	4	3	rs150673369		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:186084057C>T	ENST00000271588.4	+	74	11612	c.11383C>T	c.(11383-11385)Cga>Tga	p.R3795*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R3795*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3795	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R3795*(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATCGCAGGCGAATAGATTT	0.423													7	154					0	0	0	0	T	186084057	C	T	186084057	4	4	384	1	0	0	0	0	0	1	0	0	7270	760	27	1	11677	1	HMCN1	1	186084057	Nonsense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	268899	186084057	63166564	8	73789											
WNT9A	7483	broad.mit.edu	37	chr1	228109319	228109319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggccttgtcaccaccCggctctgtgtgttatggccg	4	10	14	13	2	2	0	1	0	1	0	2	0	2	0	4	4	0	3	4	4	1	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:228109319C>T	ENST00000272164.5	-	4	1008	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	333					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.R333Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCACCACCCGGCTCTGTGT	0.652													8	38					0	0	0	0	T	228109319	C	T	228109319	3	4	384	1	0	0	0	0	1	0	0	0	17494	652	23	1	103	1	WNT9A	1	228109319	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	42025262	228109319	21141302	9	73790											
RBM34	23029	broad.mit.edu	37	chr1	235324512	235324512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggacacttctctttctCttccgtttgctcatcccttc	3	18	4	16	1	3	0	1	0	2	0	9	1	6	1	3	1	1	2	3	1	0	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:235324512C>G	ENST00000408888.3	-	1	260	c.30G>C	c.(28-30)aaG>aaC	p.K10N	RBM34_ENST00000366606.3_Missense_Mutation_p.K5N			P42696	RBM34_HUMAN	RNA binding motif protein 34	10						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCTCTTTCTCTTCCGTTTGC	0.622													60	116					0	0	0	0	G	235324512	C	G	235324512	3	3	384	1	0	0	0	0	1	0	0	0	13213	912	32	2	1327	2	RBM34	1	235324512	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	7215193	235324512	13926109	10	73791											
OR2G2	81470	broad.mit.edu	37	chr1	247752273	247752273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgaggctgagctttttgtGgctagtatccttttccttat	7	17	9	8	1	0	1	0	1	0	0	2	2	2	1	2	2	2	4	2	2	4	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:247752273G>A	ENST00000320065.1	+	1	612	c.612G>A	c.(610-612)gtG>gtA	p.V204V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			AGCTTTTTGTGGCTAGTATCC	0.512													19	80					0	0	0	0	A	247752273	G	A	247752273	2	1	384	1	0	0	0	0	0	0	0	1	11069	1335	47	4		4	OR2G2	1	247752273	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	12427761	247752273	1498348	11	73792											
HPCAL1	3241	broad.mit.edu	37	chr2	10560208	10560208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgggccttcagcatgtacGacctggacggcaacggctac	9	7	13	12	3	1	0	1	0	0	0	1	2	1	1	2	4	4	4	2	4	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:10560208G>A	ENST00000381765.3	+	4	851	c.325G>A	c.(325-327)Gac>Aac	p.D109N	HPCAL1_ENST00000307845.3_Missense_Mutation_p.D109N	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	109	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CAGCATGTACGACCTGGACGG	0.667													13	46					0	0	0	0	A	10560208	G	A	10560208	3	1	384	1	0	0	0	0	1	0	0	0	7380	1058	37	1	327	1	HPCAL1	2	10560208	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		10560208	232639165	12	73793											
BIRC6	57448	broad.mit.edu	37	chr2	32733227	32733227	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccagcacattaggcctttCacaaattaaattattggggc	12	12	8	9	0	1	0	1	0	0	0	1	0	1	0	2	3	2	1	2	3	5	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:32733227C>G	ENST00000421745.2	+	51	10015	c.9881C>G	c.(9880-9882)tCa>tGa	p.S3294*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3294					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)					TTAGGCCTTTCACAAATTAAA	0.438													4	36					0	0	0	0	G	32733227	C	G	32733227	4	3	384	1	0	0	0	0	0	1	0	0	1443	838	29	2	10083	2	BIRC6	2	32733227	Nonsense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	22173019	32733227	210466146	13	73794											
HEATR5B	54497	broad.mit.edu	37	chr2	37227876	37227876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgactggtggaggaacctGattatctgcagactttattg	10	13	11	7	0	1	3	0	2	1	1	1	5	1	5	1	3	2	1	1	3	3	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:37227876G>C	ENST00000233099.5	-	33	5493	c.5398C>G	c.(5398-5400)Cag>Gag	p.Q1800E	HEATR5B_ENST00000354531.2_Missense_Mutation_p.Q1711E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1800							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGAGGAACCTGATTATCTGCA	0.408													21	54					0	0	0	0	C	37227876	G	C	37227876	3	2	384	1	0	0	0	0	1	0	0	0	7082	1299	45	2	833	2	HEATR5B	2	37227876	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	4494649	37227876	205971497	14	73795											
CEBPZ	10153	broad.mit.edu	37	chr2	37443509	37443509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacaaatcgatccaaaaatCtcattagagtgaaatcctgc	17	10	5	9	1	1	2	1	1	1	1	5	3	3	2	2	0	2	0	2	0	6	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:37443509C>G	ENST00000234170.5	-	7	2406	c.2261G>C	c.(2260-2262)aGa>aCa	p.R754T		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	754					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCCAAAAATCTCATTAGAGT	0.338													26	85					0	0	0	0	G	37443509	C	G	37443509	3	3	384	1	0	0	0	0	1	0	0	0	3233	913	32	2	943	2	CEBPZ	2	37443509	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	215633	37443509	205755864	15	73796											
KCNG3	170850	broad.mit.edu	37	chr2	42671137	42671137	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctaaacttgagctcatgAtaacactgcacaaagctatg	15	10	7	9	0	2	2	1	2	1	0	2	3	2	2	0	0	5	3	0	0	5	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:42671137A>G	ENST00000306078.1	-	2	1843	c.1248T>C	c.(1246-1248)taT>taC	p.Y416Y	KCNG3_ENST00000394973.4_Silent_p.Y405Y	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	416						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGAGCTCATGATAACACTGCA	0.388													16	61					0	0	0	0	G	42671137	A	G	42671137	2	3	384	1	0	0	0	0	0	0	0	1	8082	340	12	5		5	KCNG3	2	42671137	Silent	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	5227628	42671137	200528236	16	73797											
CD8A	925	broad.mit.edu	37	chr2	87013059	87013059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggttagacgtatctcgccGaaaggctgggcttgtctccc	7	10	13	11	3	2	1	0	0	2	1	4	2	2	1	2	3	0	4	2	3	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:87013059G>A	ENST00000409511.2	-	9	1722	c.692C>T	c.(691-693)tCg>tTg	p.S231L	CD8A_ENST00000456996.2_Missense_Mutation_p.S194L|CD8A_ENST00000283635.3_Missense_Mutation_p.S231L|CD8A_ENST00000352580.3_Missense_Mutation_p.S194L|CD8A_ENST00000538832.1_Missense_Mutation_p.S272L|CD8A_ENST00000409781.1_Missense_Mutation_p.S194L	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	231					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GTATCTCGCCGAAAGGCTGGG	0.512													40	132					0	0	0	0	A	87013059	G	A	87013059	3	1	384	1	0	0	0	0	1	0	0	0	3073	1059	37	1	19	1	CD8A	2	87013059	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	44341922	87013059	156186314	17	73798											
LRP1B	53353	broad.mit.edu	37	chr2	141356336	141356336	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgaccaccacttgagcaTttttcccagtcagagtagat	11	12	7	11	0	1	4	1	2	0	2	2	4	2	4	3	0	2	2	3	0	2	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:141356336T>A	ENST00000389484.3	-	43	8029	c.7058A>T	c.(7057-7059)aAt>aTt	p.N2353I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2353					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTTGAGCATTTTTCCCAGT	0.368										TSP Lung(27;0.18)			9	31					0	0	0	0	A	141356336	T	A	141356336	3	1	384	1	0	0	0	0	1	0	0	0	9019	1493	52	5	6937	5	LRP1B	2	141356336	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	54343277	141356336	101843037	18	73799											
NMI	9111	broad.mit.edu	37	chr2	152135393	152135393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctttttgtatctcataagGaactttcgagctcacttgaa	10	16	6	9	1	2	1	2	1	1	0	5	3	3	2	1	1	2	2	1	1	4	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:152135393G>A	ENST00000243346.5	-	4	759	c.289C>T	c.(289-291)Cct>Tct	p.P97S		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	97					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		ATCTCATAAGGAACTTTCGAG	0.343													5	26					0	0	0	0	A	152135393	G	A	152135393	3	1	384	1	0	0	0	0	1	0	0	0	10567	1174	41	2	654	2	NMI	2	152135393	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	10779057	152135393	91063980	19	73800											
MARCH7	64844	broad.mit.edu	37	chr2	160623858	160623858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgatattgcctaacttcAtataagacagatggatgatc	14	14	7	6	0	1	4	1	2	0	2	2	5	1	5	1	1	2	0	1	1	4	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:160623858A>G	ENST00000539065.1	+	8	2035	c.1903A>G	c.(1903-1905)Ata>Gta	p.I635V	MARCH7_ENST00000409591.1_3'UTR|MARCH7_ENST00000259050.3_3'UTR|MARCH7_ENST00000409175.1_3'UTR			Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	0							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GCCTAACTTCATATAAGACAG	0.328													13	53					0	0	0	0	G	160623858	A	G	160623858	3	3	384	1	0	0	0	0	1	0	0	0	9375	232	8	5		5	MARCH7	2	160623858	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	8488465	160623858	82575515	20	73801											
IFIH1	64135	broad.mit.edu	37	chr2	163167287	163167287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaatacctgcattgctttCtgagcaatcagagcctgtta	12	12	7	10	0	2	2	1	1	1	1	2	2	2	2	2	0	5	4	2	0	4	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:163167287C>G	ENST00000263642.2	-	2	1005	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	IFIH1_ENST00000421365.2_Missense_Mutation_p.E204Q	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	204					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GCATTGCTTTCTGAGCAATCA	0.373													12	24					0	0	0	0	G	163167287	C	G	163167287	3	3	384	1	0	0	0	0	1	0	0	0	7573	922	32	2	2527	2	IFIH1	2	163167287	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	2543429	163167287	80032086	21	73802											
WIPF1	7456	broad.mit.edu	37	chr2	175446073	175446073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttctgtcattggtgaccGtcttctttagtttcttccct	4	19	6	12	1	5	1	1	1	4	0	6	1	6	1	2	1	0	1	2	1	1	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:175446073G>A	ENST00000392547.2	-	3	245	c.146C>T	c.(145-147)aCg>aTg	p.T49M	WIPF1_ENST00000272746.5_Missense_Mutation_p.T49M|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.T49M|WIPF1_ENST00000410117.1_Missense_Mutation_p.T49M|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.T49M|WIPF1_ENST00000409891.1_Missense_Mutation_p.T49M|WIPF1_ENST00000392546.2_Missense_Mutation_p.T49M|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	49	WH2.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.T49M(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATTGGTGACCGTCTTCTTTAG	0.433													65	238					0	0	0	0	A	175446073	G	A	175446073	3	1	384	1	0	0	0	0	1	0	0	0	17463	1145	40	1	1389	1	WIPF1	2	175446073	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	12278786	175446073	67753300	22	73803											
TTN	7273	broad.mit.edu	37	chr2	179418418	179418418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcctctccttgtcttatctCgacaacatacccagtaacag	10	13	4	14	1	3	0	0	0	3	0	6	1	4	0	3	0	3	1	3	0	4	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:179418418C>G	ENST00000589042.1	-	334	89538	c.89314G>C	c.(89314-89316)Gag>Cag	p.E29772Q	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20832Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27204Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20707Q|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20899Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28131Q|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28131	Fibronectin type-III 117.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTTATCTCGACAACATAC	0.463													11	62					0	0	0	0	G	179418418	C	G	179418418	3	3	384	1	0	0	0	0	1	0	0	0	16831	893	31	3	18781	3	TTN	2	179418418	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	3972345	179418418	63780955	23	73804											
ITGA4	3676	broad.mit.edu	37	chr2	182347350	182347350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcagagaggaaggaaGagtgtttgtgtacatcaact	14	9	11	7	0	2	2	2	0	0	2	2	5	2	4	1	2	2	2	1	2	4	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:182347350G>T	ENST00000397033.2	+	9	1443	c.1013G>T	c.(1012-1014)aGa>aTa	p.R338I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	338					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.R338I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAGGAAGGAAGAGTGTTTGTG	0.473													34	130					1.36239e-07	1.42116e-07	1	0	T	182347350	G	T	182347350	3	4	384	1	0	0	0	0	1	0	0	0	7931	942	33	2	1047	2	ITGA4	2	182347350	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	2928932	182347350	60852023	24	73805											
SPEG	10290	broad.mit.edu	37	chr2	220334043	220334043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgccctaccccaccatCagctggttccacaatggcca	8	7	8	18	0	1	0	1	0	0	0	2	0	2	0	7	3	3	2	7	3	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:220334043C>T	ENST00000312358.7	+	13	3789	c.3657C>T	c.(3655-3657)atC>atT	p.I1219I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1219	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCCCACCATCAGCTGGTTCC	0.642													4	23					0	0	0	0	T	220334043	C	T	220334043	2	4	384	1	0	0	0	0	0	0	0	1	15126	816	29	2		2	SPEG	2	220334043	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	37986693	220334043	22865330	25	73806											
SPEG	10290	broad.mit.edu	37	chr2	220336980	220336980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccctccagatggcgccccGcaggtggtggctgtgacggg	4	6	18	13	3	0	2	0	1	0	1	1	2	1	2	4	6	0	2	4	6	0	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:220336980G>A	ENST00000312358.7	+	15	3999	c.3867G>A	c.(3865-3867)ccG>ccA	p.P1289P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1289	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGGCGCCCCGCAGGTGGTGG	0.647													12	62					0	0	0	0	A	220336980	G	A	220336980	2	1	384	1	0	0	0	0	0	0	0	1	15126	1074	38	1		1	SPEG	2	220336980	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	2937	220336980	22862393	26	73807											
UGT1A8	54576	broad.mit.edu	37	chr2	234526661	234526661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatggaaagcacaagtacGaagtttgttttctctatttc	12	15	7	7	1	2	0	1	0	1	0	4	2	2	1	0	1	2	4	0	1	6	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:234526661G>A	ENST00000373450.4	+	1	371	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCACAAGTACGAAGTTTGTTT	0.383													35	94					0	0	0	0	A	234526661	G	A	234526661	3	1	384	1	0	0	0	0	1	0	0	0	17047	1058	37	1	310	1	UGT1A8	2	234526661	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	14189681	234526661	8672712	27	73808											
SH3BP4	23677	broad.mit.edu	37	chr2	235949874	235949874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacaaaaaagtaccaggcaGaatgtacagtaataaccctt	18	8	7	8	0	0	2	0	1	0	1	0	2	0	2	2	1	3	4	2	1	8	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:235949874G>A	ENST00000409212.1	+	4	968	c.461G>A	c.(460-462)aGa>aAa	p.R154K	SH3BP4_ENST00000344528.4_Missense_Mutation_p.R154K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R154K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	154					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GTACCAGGCAGAATGTACAGT	0.512													16	68					0	0	0	0	A	235949874	G	A	235949874	3	1	384	1	0	0	0	0	1	0	0	0	14333	942	33	2	467	2	SH3BP4	2	235949874	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	1423213	235949874	7249499	28	73809											
ANKMY1	51281	broad.mit.edu	37	chr2	241463486	241463486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcgtctcagcactgcacaGactgccccggtctgtgtttc	5	13	9	14	2	2	1	1	0	2	1	5	1	2	1	2	1	3	3	2	1	0	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:241463486G>C	ENST00000391987.1	-	8	1747	c.1381C>G	c.(1381-1383)Ctg>Gtg	p.L461V	ANKMY1_ENST00000403283.1_Missense_Mutation_p.L399V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.L273V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.L550V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.L320V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.L231V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.L320V|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.L461V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.L231V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.L320V			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	461							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCACTGCACAGACTGCCCCGG	0.597													16	69					0	0	0	0	C	241463486	G	C	241463486	3	2	384	1	0	0	0	0	1	0	0	0	634	933	33	2	1488	2	ANKMY1	2	241463486	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	5513612	241463486	1735887	29	73810											
KIF1A	547	broad.mit.edu	37	chr2	241702193	241702193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtagtacctggagtccaTctgcttctgcagagcctcca	7	10	11	13	1	2	1	0	0	2	1	4	2	4	2	4	2	4	4	4	2	2	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:241702193T>A	ENST00000498729.2	-	23	2305	c.2059A>T	c.(2059-2061)Atg>Ttg	p.M687L	KIF1A_ENST00000320389.7_Missense_Mutation_p.M678L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	678					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGGAGTCCATCTGCTTCTGC	0.622													3	10					0	0	0	0	A	241702193	T	A	241702193	3	1	384	1	0	0	0	0	1	0	0	0	8334	1435	50	5	3144	5	KIF1A	2	241702193	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	238707	241702193	1497180	30	73811											
RAF1	5894	broad.mit.edu	37	chr3	12626379	12626379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctctcttcctttactttCttcacacagtcagctaccag	7	14	5	15	0	4	0	2	0	2	0	6	0	5	0	3	1	3	1	3	1	2	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:12626379C>T	ENST00000251849.4	-	16	2209	c.1770G>A	c.(1768-1770)aaG>aaA	p.K590K	RAF1_ENST00000542177.1_Silent_p.K509K|RAF1_ENST00000534997.1_Silent_p.K375K|RAF1_ENST00000442415.2_Silent_p.K610K	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	590	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CCTTTACTTTCTTCACACAGT	0.463			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				24	71					0	0	0	0	T	12626379	C	T	12626379	2	4	384	1	0	0	0	0	0	0	0	1	13084	912	32	2		2	RAF1	3	12626379	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08		12626379	185396051	31	73812											
NUP210	23225	broad.mit.edu	37	chr3	13368824	13368824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggcaggggcatgaagtccGagaggcccgggtgctctgcg	7	5	18	11	3	1	2	0	1	1	1	2	3	2	2	2	5	2	3	2	5	1	0	rs147955019	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:13368824G>A	ENST00000254508.5	-	32	4482	c.4400C>T	c.(4399-4401)tCg>tTg	p.S1467L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1467					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CATGAAGTCCGAGAGGCCCGG	0.652													7	26					0	0	0	0	A	13368824	G	A	13368824	3	1	384	1	0	0	0	0	1	0	0	0	10831	1059	37	1	1299	1	NUP210	3	13368824	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	742445	13368824	184653606	32	73813											
ZNF860	344787	broad.mit.edu	37	chr3	32030581	32030581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaaagactcatgttacgtGaggaagcagctcagaagagg	14	8	12	7	1	3	4	2	1	1	3	3	5	3	5	0	2	3	3	0	2	5	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:32030581G>A	ENST00000360311.4	+	2	559	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CATGTTACGTGAGGAAGCAGC	0.453													14	72					0	0	0	0	A	32030581	G	A	32030581	3	1	384	1	0	0	0	0	1	0	0	0	18287	1291	45	2	12	2	ZNF860	3	32030581	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	18661757	32030581	165991849	33	73814											
CNOT10	25904	broad.mit.edu	37	chr3	32758664	32758665	+	Frame_Shift_Ins	INS	-	-	T																															gtacaaagtacgagcttataINStccaaatgaagtctctgaaa																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:32758664_32758665insT	ENST00000328834.5	+	7	995_996	c.679_680insT	c.(679-681)ccafs	p.P227fs	CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.P227fs|CNOT10_ENST00000538368.1_5'UTR|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.P287fs	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	227					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ACGAGCTTATATCCAAATGAAG	0.327													15	72	---	---	---	---					T	32758665	-	T	32758664	7	5	384	1	0	1	1	0	0	0	0	0	3648	449	16	0	705	0	CNOT10	3	32758664	Frame_Shift_Ins	INS	-	TCGA-DQ-5625-01A-01D-1870-08	728083	32758664	165263766	34	73815											
CSPG5	10675	broad.mit.edu	37	chr3	47618627	47618627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcactagaagctcattttCatcttctaggtctccacctc	8	13	7	13	0	5	1	2	0	3	1	7	1	5	1	2	2	1	2	2	2	3	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47618627C>T	ENST00000383738.2	-	2	2987	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CSPG5_ENST00000456150.1_Missense_Mutation_p.E159K|CSPG5_ENST00000264723.4_Missense_Mutation_p.E297K	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	297	Interaction with TNC and TNR (By similarity).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCTCATTTTCATCTTCTAGG	0.552													7	25					0	0	0	0	T	47618627	C	T	47618627	3	4	384	1	0	0	0	0	1	0	0	0	3993	835	29	2	746	2	CSPG5	3	47618627	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	14859963	47618627	150403803	35	73816											
CSPG5	10675	broad.mit.edu	37	chr3	47618876	47618876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctcaccatccagtccttCgaagtagtcgatgtcaatga	11	10	7	13	2	2	1	2	1	0	0	6	3	4	1	4	0	0	1	4	0	3	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47618876C>T	ENST00000383738.2	-	2	2738	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	CSPG5_ENST00000456150.1_Missense_Mutation_p.E76K|CSPG5_ENST00000264723.4_Missense_Mutation_p.E214K	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	214					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCAGTCCTTCGAAGTAGTCG	0.592													13	41					0	0	0	0	T	47618876	C	T	47618876	3	4	384	1	0	0	0	0	1	0	0	0	3993	893	31	1	995	1	CSPG5	3	47618876	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	249	47618876	150403554	36	73817											
DHX30	22907	broad.mit.edu	37	chr3	47889747	47889747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgggccgctgccagtcCggctttgcctaccacttgtt	3	10	13	15	4	0	0	0	0	0	0	1	0	1	0	5	3	3	3	5	3	1	4	rs147501030		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47889747C>T	ENST00000446256.2	+	16	2819	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S	DHX30_ENST00000348968.4_Silent_p.S760S|DHX30_ENST00000457607.1_Silent_p.S816S|DHX30_ENST00000445061.1_Silent_p.S788S	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	788	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		gcTGCCAGTCCGGCTTTGCCT	0.612													12	38					0	0	0	0	T	47889747	C	T	47889747	2	4	384	1	0	0	0	0	0	0	0	1	4541	639	23	1		1	DHX30	3	47889747	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	270871	47889747	150132683	37	73818											
RHOA	387	broad.mit.edu	37	chr3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatctgccacatagttctCaaacactgtgggcacataca	13	10	7	11	0	2	0	1	0	2	0	3	1	2	0	1	1	3	2	1	1	4	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q|RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438													39	135					0	0	0	0	G	49412905	C	G	49412905	3	3	384	1	0	0	0	0	1	0	0	0	13414	835	29	2	479	2	RHOA	3	49412905	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	1523158	49412905	148609525	38	73819											
STAB1	23166	broad.mit.edu	37	chr3	52539121	52539121	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtggtcactggcctgCggtggcaggccccctctggg	3	8	15	15	2	2	0	1	0	1	0	3	0	3	0	4	6	1	1	4	6	0	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:52539121C>A	ENST00000321725.6	+	13	1556	c.1480C>A	c.(1480-1482)Cgg>Agg	p.R494R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	494	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACTGGCCTGCGGTGGCAGGC	0.597													23	94					9.04412e-07	9.36084e-07	1	0	A	52539121	C	A	52539121	2	1	384	1	0	0	0	0	0	0	0	1	15327	759	27	3		3	STAB1	3	52539121	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	3126216	52539121	145483309	39	73820											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526789	64526789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgattatctgcatgctggTcaggtctattctgattttct	7	18	8	8	0	5	2	1	2	4	0	5	2	5	2	0	2	2	2	0	2	2	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:64526789T>C	ENST00000498707.1	-	36	5845	c.5503A>G	c.(5503-5505)Acc>Gcc	p.T1835A	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T1807A	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1835	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCATGCTGGTCAGGTCTATT	0.493													18	52					0	0	0	0	C	64526789	T	C	64526789	3	2	384	1	0	0	0	0	1	0	0	0	273	1667	58	5	320	5	ADAMTS9	3	64526789	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	11987668	64526789	133495641	40	73821											
UMPS	7372	broad.mit.edu	37	chr3	124462850	124462850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgtaggtcgtggcataatCtcagcagctgatcgtctgga	9	12	12	8	2	2	1	1	1	2	0	5	2	2	2	0	3	2	4	0	3	2	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:124462850C>T	ENST00000232607.2	+	6	1468	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	UMPS_ENST00000413078.2_Silent_p.I179I|UMPS_ENST00000538242.1_Silent_p.I276I|UMPS_ENST00000536109.1_Silent_p.I362I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	454	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		GTGGCATAATCTCAGCAGCTG	0.433													12	22					0	0	0	0	T	124462850	C	T	124462850	2	4	384	1	0	0	0	0	0	0	0	1	17077	903	32	2		2	UMPS	3	124462850	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	59936061	124462850	73559580	41	73822											
MUC13	56667	broad.mit.edu	37	chr3	124641076	124641076	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcactatgcaagtcttgatAggccatggaatgtttctctt	9	16	8	8	0	3	1	1	1	2	0	4	2	3	2	1	2	1	2	1	2	4	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:124641076A>G	ENST00000311075.3	-	4	747	c.709T>C	c.(709-711)Tat>Cat	p.Y237H		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	237	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AAGTCTTGATAGGCCATGGAA	0.378													7	36					0	0	0	0	G	124641076	A	G	124641076	3	3	384	1	0	0	0	0	1	0	0	0	10041	420	15	5	858	5	MUC13	3	124641076	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	178226	124641076	73381354	42	73823											
PIK3R4	30849	broad.mit.edu	37	chr3	130452474	130452474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtattccggataaatattGatatcattacgaggaacctc	14	13	7	7	2	1	1	1	1	0	0	3	4	2	3	2	2	2	1	2	2	7	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:130452474G>C	ENST00000356763.3	-	4	1925	c.1368C>G	c.(1366-1368)atC>atG	p.I456M		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	456					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GATAAATATTGATATCATTAC	0.448													12	40					0	0	0	0	C	130452474	G	C	130452474	3	2	384	1	0	0	0	0	1	0	0	0	11993	1280	45	2	2776	2	PIK3R4	3	130452474	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	5811398	130452474	67569956	43	73824											
IGSF10	285313	broad.mit.edu	37	chr3	151155070	151155070	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggcttctggccaatttCtaatatgactaatttctcaa	12	15	5	9	0	3	1	1	1	3	0	4	1	3	1	1	2	1	1	1	2	6	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:151155070C>A	ENST00000282466.3	-	6	7278	c.7279G>T	c.(7279-7281)Gaa>Taa	p.E2427*	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2427	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGCCAATTTCTAATATGACT	0.403													15	76					3.27435e-08	3.45626e-08	1	0	A	151155070	C	A	151155070	4	1	384	1	0	0	0	0	0	1	0	0	7650	922	32	2	596	2	IGSF10	3	151155070	Nonsense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	20702596	151155070	46867360	44	73825											
MME	4311	broad.mit.edu	37	chr3	154832894	154832894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcccgagaccagctcccGttacggcaactttgacattt	9	11	7	14	3	0	2	0	1	0	1	2	3	2	2	3	1	3	3	3	1	2	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:154832894G>A	ENST00000460393.1	+	4	428	c.308G>A	c.(307-309)cGt>cAt	p.R103H	MME_ENST00000462745.1_Missense_Mutation_p.R103H|MME_ENST00000360490.2_Missense_Mutation_p.R103H|MME_ENST00000492661.1_Missense_Mutation_p.R103H|MME_ENST00000493237.1_Missense_Mutation_p.R103H|MME_ENST00000477669.1_3'UTR	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	103					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R103L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACCAGCTCCCGTTACGGCAAC	0.413													20	83					0	0	0	0	A	154832894	G	A	154832894	3	1	384	1	0	0	0	0	1	0	0	0	9714	1145	40	1	318	1	MME	3	154832894	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	3677824	154832894	43189536	45	73826											
SEC62	7095	broad.mit.edu	37	chr3	169703609	169703609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaggtgtatgtatggatctAtgacccagttcactttaaaa	12	14	8	7	0	2	1	1	1	1	0	2	2	2	2	1	2	0	3	1	2	6	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:169703609A>G	ENST00000337002.4	+	6	624	c.566A>G	c.(565-567)tAt>tGt	p.Y189C	SEC62_ENST00000480708.1_Missense_Mutation_p.Y189C|SEC62_ENST00000470355.1_3'UTR	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	189					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTATGGATCTATGACCCAGTT	0.308													12	48					0	0	0	0	G	169703609	A	G	169703609	3	3	384	1	0	0	0	0	1	0	0	0	14091	449	16	5	588	5	SEC62	3	169703609	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	14870715	169703609	28318821	46	73827											
MUC4	4585	broad.mit.edu	37	chr3	195501148	195501148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactccaggtccccggcGcctgccccataggggaagag	9	4	13	15	3	0	1	0	0	0	1	2	3	2	2	6	4	2	0	6	4	3	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:195501148G>A	ENST00000463781.3	-	4	13431	c.12972C>T	c.(12970-12972)ggC>ggT	p.G4324G	MUC4_ENST00000349607.4_Silent_p.G37G|MUC4_ENST00000346145.4_Silent_p.G88G|MUC4_ENST00000475231.1_Silent_p.G4324G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1081					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTCCCCGGCGCCTGCCCCAT	0.627													26	32					0	0	0	0	A	195501148	G	A	195501148	2	1	384	1	0	0	0	0	0	0	0	1	10048	1074	38	1		1	MUC4	3	195501148	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	25797539	195501148	2521282	47	73828											
PACRGL	133015	broad.mit.edu	37	chr4	20711361	20711361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaatgtcctcctgaaagtCtttcatttgatccacttctt	8	16	7	10	0	3	2	1	2	2	0	6	3	6	3	3	1	0	0	3	1	2	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:20711361C>G	ENST00000360916.5	+	5	722	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V	PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.L111V|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.L111V|PACRGL_ENST00000503585.1_Missense_Mutation_p.L111V|PACRGL_ENST00000502938.1_Intron	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	111							binding	p.L111V(1)		endometrium(2)|lung(7)|prostate(1)	10						TCCTGAAAGTCTTTCATTTGA	0.289													16	82					0	0	0	0	G	20711361	C	G	20711361	3	3	384	1	0	0	0	0	1	0	0	0	11442	913	32	2	345	2	PACRGL	4	20711361	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08		20711361	170442915	48	73829											
PCDH7	5099	broad.mit.edu	37	chr4	30724333	30724333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctcaaggacggggtggCcaacgtggccgaggacgttc	7	5	15	14	4	1	0	1	0	0	0	2	3	1	2	4	6	1	1	4	6	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:30724333C>T	ENST00000361762.2	+	1	2297	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	PCDH7_ENST00000543491.1_Missense_Mutation_p.A430V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	430	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACGGGGTGGCCAACGTGGCC	0.617													3	24					0	0	0	0	T	30724333	C	T	30724333	3	4	384	1	0	0	0	0	1	0	0	0	11587	739	26	4	1291	4	PCDH7	4	30724333	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	10012972	30724333	160429943	49	73830											
EPHA5	2044	broad.mit.edu	37	chr4	66197845	66197845	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgccaataaattagataCtctaaaacacataaaacata	20	11	2	8	0	2	1	0	0	2	1	2	1	2	1	1	0	4	0	1	0	10	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:66197845C>T	ENST00000273854.3	-	17	3454	c.2852_splice	c.e17-1	p.V952_splice	EPHA5_ENST00000432638.2_Splice_Site_p.V789_splice|EPHA5_ENST00000354839.4_Splice_Site_p.V930_splice|EPHA5_ENST00000511294.1_Splice_Site_p.V953_splice	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	952					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATTAGATACTCTAAAACAC	0.333										TSP Lung(17;0.13)			3	24					0	0	0	0	T	66197845	C	T	66197845	5	4	384	1	0	0	0	0	0	0	1	0	5208	579	20	4	267	4	EPHA5	4	66197845	Splice_Site	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	35473512	66197845	124956431	50	73831											
CXCL2	2920	broad.mit.edu	37	chr4	74964583	74964583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttggatgttcttgaggtGaattccctgcagggtctgca	7	14	12	8	0	2	2	0	2	2	0	3	3	3	3	1	3	2	3	1	3	1	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:74964583G>A	ENST00000508487.2	-	2	329	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	53					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			TTCTTGAGGTGAATTCCCTGC	0.617													31	142					0	0	0	0	A	74964583	G	A	74964583	3	1	384	1	0	0	0	0	1	0	0	0	4117	1290	45	2	178	2	CXCL2	4	74964583	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	8766738	74964583	116189693	51	73832											
SPARCL1	8404	broad.mit.edu	37	chr4	88415749	88415749	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtactgatgatttttcaGccttaaaagaaaaaaaagtt	17	14	6	4	0	1	3	1	2	0	1	1	3	1	3	1	0	2	2	1	0	8	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:88415749G>A	ENST00000418378.1	-	5	774	c.201_splice	c.e5-1	p.A68_splice	SPARCL1_ENST00000503414.1_5'UTR|SPARCL1_ENST00000282470.6_Splice_Site_p.A68_splice	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	68					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGATTTTTCAGCCTTAAAAGA	0.338													3	36					0	0	0	0	A	88415749	G	A	88415749	5	1	384	1	0	0	0	0	0	0	1	0	15086	985	34	4	1823	4	SPARCL1	4	88415749	Splice_Site	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	13451166	88415749	102738527	52	73833											
COL25A1	84570	broad.mit.edu	37	chr4	109783686	109783686	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggcctctagttcctgAttcaccttgtttcccctatt	4	18	6	13	0	2	1	1	1	1	0	4	1	4	1	5	1	0	2	5	1	2	8			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:109783686A>C	ENST00000399132.1	-	22	1698	c.1168T>G	c.(1168-1170)Tca>Gca	p.S390A	COL25A1_ENST00000399127.1_Intron|COL25A1_ENST00000399126.1_Missense_Mutation_p.S390A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	390	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTAGTTCCTGATTCACCTTGT	0.373													110	221					0	0	0	0	C	109783686	A	C	109783686	3	2	384	1	0	0	0	0	1	0	0	0	3714	333	12	5	948	5	COL25A1	4	109783686	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	21367937	109783686	81370590	53	73834											
CCNA2	890	broad.mit.edu	37	chr4	122740557	122740557	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaactttgcagtttgcAggctgctgatgcagaaagta	10	13	10	8	0	1	2	1	1	0	1	1	2	1	2	0	1	5	7	0	1	3	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:122740557A>T	ENST00000274026.5	-	5	1275	c.972T>A	c.(970-972)ccT>ccA	p.P324P		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	324					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TGCAGTTTGCAGGCTGCTGAT	0.373													3	52					0	0	0	0	T	122740557	A	T	122740557	2	4	384	1	0	0	0	0	0	0	0	1	2939	175	7	5		5	CCNA2	4	122740557	Silent	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	12956871	122740557	68413719	54	73835											
CLGN	1047	broad.mit.edu	37	chr4	141320051	141320051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaggaatttttgctctttCatcccattcctcaggttttt	7	19	5	10	0	4	0	3	0	1	0	6	1	6	1	2	2	1	2	2	2	1	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:141320051C>T	ENST00000325617.5	-	8	1278	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	CLGN_ENST00000414773.1_Missense_Mutation_p.E280K|CLGN_ENST00000537281.1_Missense_Mutation_p.E280K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	280					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTTGCTCTTTCATCCCATTCC	0.403													29	190					0	0	0	0	T	141320051	C	T	141320051	3	4	384	1	0	0	0	0	1	0	0	0	3554	835	29	2	1026	2	CLGN	4	141320051	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	18579494	141320051	49834225	55	73836											
TRIM2	23321	broad.mit.edu	37	chr4	154197120	154197120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagacctccatcctgccCgagaaaggggtggccgcgct	7	5	13	16	4	0	2	0	0	0	2	2	3	2	2	6	3	1	1	6	3	1	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:154197120C>T	ENST00000338700.5	+	3	356	c.291C>T	c.(289-291)ccC>ccT	p.P97P	TRIM2_ENST00000437508.2_Silent_p.P70P|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	70						cytoplasm	zinc ion binding	p.P97P(1)|p.P70P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCATCCTGCCCGAGAAAGGGG	0.577													13	68					0	0	0	0	T	154197120	C	T	154197120	2	4	384	1	0	0	0	0	0	0	0	1	16589	639	23	1		1	TRIM2	4	154197120	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	12877069	154197120	36957156	56	73837											
HAND2	9464	broad.mit.edu	37	chr4	174449933	174449933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgtcggtcttcttgatctCtgccttgaaggcctccgcct	4	13	9	15	3	3	2	0	2	3	0	6	2	4	2	4	2	1	0	4	2	1	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:174449933C>T	ENST00000359562.4	-	1	1447	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	170					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCTTGATCTCTGCCTTGAAG	0.612													9	34					0	0	0	0	T	174449933	C	T	174449933	3	4	384	1	0	0	0	0	1	0	0	0	7000	922	32	2	153	2	HAND2	4	174449933	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	20252813	174449933	16704343	57	73838											
CDH6	1004	broad.mit.edu	37	chr5	31297509	31297509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatttttcagttgaatcaGaaacaggttagactttttga	12	16	7	6	0	2	4	2	2	0	2	2	4	2	4	1	1	1	2	1	1	4	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:31297509G>A	ENST00000265071.2	+	4	902	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	CDH6_ENST00000514738.1_Missense_Mutation_p.E158K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	213	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						AGTTGAATCAGAAACAGGTTA	0.348													10	46					0	0	0	0	A	31297509	G	A	31297509	3	1	384	1	0	0	0	0	1	0	0	0	3143	943	33	2	647	2	CDH6	5	31297509	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		31297509	149617751	58	73839											
PTGER4	5734	broad.mit.edu	37	chr5	40681496	40681496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagccactacgtggacaagcGattggcgggcctcacgctct	8	7	12	14	4	2	0	1	0	1	0	2	2	2	1	2	3	3	1	2	3	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:40681496G>C	ENST00000302472.3	+	2	1425	c.401G>C	c.(400-402)cGa>cCa	p.R134P	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	134					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GTGGACAAGCGATTGGCGGGC	0.587											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	127					0	0	0	0	C	40681496	G	C	40681496	3	2	384	1	0	0	0	0	1	0	0	0	12825	1058	37	3	403	3	PTGER4	5	40681496	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	9383987	40681496	140233764	59	73840											
C5orf34	375444	broad.mit.edu	37	chr5	43503812	43503812	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattttcactagttcaggaTaggaatattcatcagattgt	12	15	7	7	0	4	1	4	0	0	1	4	3	4	3	1	2	0	1	1	2	4	8			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:43503812T>G	ENST00000306862.2	-	5	1358	c.983A>C	c.(982-984)tAt>tCt	p.Y328S	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	328										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAGTTCAGGATAGGAATATTC	0.353													26	112					0	0	0	0	G	43503812	T	G	43503812	3	3	384	1	0	0	0	0	1	0	0	0	2314	1406	49	5	969	5	C5orf34	5	43503812	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	2822316	43503812	137411448	60	73841											
PIK3R1	5295	broad.mit.edu	37	chr5	67589592	67589592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggaaaaaattacatgaatAtaacactcagtttcaagaaa	21	9	6	5	0	2	2	2	1	0	1	2	3	2	3	0	1	2	1	0	1	9	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:67589592A>G	ENST00000521381.1	+	11	1971	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	PIK3R1_ENST00000396611.1_Missense_Mutation_p.Y452C|PIK3R1_ENST00000523872.1_Missense_Mutation_p.Y89C|PIK3R1_ENST00000336483.5_Missense_Mutation_p.Y182C|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Y152C|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Y452C|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Y452C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	452					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G446_Y452>VI(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.0?(1)|p.E451_Y452del(1)|p.N453_T454insN(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTACATGAATATAACACTCAG	0.279			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			19	45					0	0	0	0	G	67589592	A	G	67589592	3	3	384	1	0	0	0	0	1	0	0	0	11990	449	16	5	1523	5	PIK3R1	5	67589592	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	24085780	67589592	113325668	61	73842											
MEF2C	4208	broad.mit.edu	37	chr5	88057031	88057031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcctgctgatcattagatCaatatcttcgttaattttcc	9	18	5	9	1	3	2	2	1	1	1	5	2	4	2	2	0	2	2	2	0	4	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:88057031C>T	ENST00000504921.2	-	4	1045	c.373G>A	c.(373-375)Gat>Aat	p.D125N	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125N|MEF2C_ENST00000437473.2_Missense_Mutation_p.D125N|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125N|MEF2C_ENST00000514015.1_Missense_Mutation_p.D125N|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125N|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125N			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453										HNSCC(66;0.2)			28	92					0	0	0	0	T	88057031	C	T	88057031	3	4	384	1	0	0	0	0	1	0	0	0	9526	826	29	2	1222	2	MEF2C	5	88057031	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	20467439	88057031	92858229	62	73843											
ANXA6	309	broad.mit.edu	37	chr5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtccccagacagctcccctCggatgctggcttcaatcggc	7	8	10	16	2	1	1	1	0	0	1	5	2	3	2	4	3	2	3	4	3	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:150512081C>T	ENST00000354546.5	-	10	919	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ANXA6_ENST00000356496.5_Missense_Mutation_p.R231Q|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.R199Q|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552													7	15					0	0	0	0	T	150512081	C	T	150512081	3	4	384	1	0	0	0	0	1	0	0	0	721	884	31	1	1397	1	ANXA6	5	150512081	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	62455050	150512081	30403179	63	73844											
FOXQ1	94234	broad.mit.edu	37	chr6	1313378	1313378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacgctggcggagatcaacGagtacctcatgggcaagttc	10	8	13	10	3	2	2	2	1	0	1	3	4	2	2	1	3	2	4	1	3	3	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:1313378G>A	ENST00000296839.2	+	1	704	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	147					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGAGATCAACGAGTACCTCAT	0.637													8	38					0	0	0	0	A	1313378	G	A	1313378	3	1	384	1	0	0	0	0	1	0	0	0	6077	1059	37	1	441	1	FOXQ1	6	1313378	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		1313378	169801689	64	73845											
EHMT2	10919	broad.mit.edu	37	chr6	31855970	31855970	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccacagtggggacagaaGaccatcccattcagctgaga	12	6	10	13	0	1	3	1	1	0	3	3	5	3	4	4	2	1	1	4	2	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:31855970G>C	ENST00000395728.3	-	12	1763	c.1764C>G	c.(1762-1764)gtC>gtG	p.V588V	EHMT2_ENST00000375528.4_Silent_p.V554V|EHMT2_ENST00000375530.4_Silent_p.V497V|EHMT2_ENST00000375537.4_Silent_p.V531V|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	531					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGACAGAAGACCATCCCAT	0.642													25	36					0	0	0	0	C	31855970	G	C	31855970	2	2	384	1	0	0	0	0	0	0	0	1	5020	929	33	2		2	EHMT2	6	31855970	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	30542592	31855970	139259097	65	73846											
POLR1C	9533	broad.mit.edu	37	chr6	43497022	43497022	+	Frame_Shift_Del	DEL	T	T	-																															tggctgcggtggctcacaccTgtaatcccagcactttggga																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:43497022delT	ENST00000304004.3	+	9	979	c.958delT	c.(958-960)gtfs	p.C320fs	XPO5_ENST00000265351.7_Intron			O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ggctcacacctgtaatcccag	0.473													9	26	---	---	---	---					-	43497022	T	-	43497022	7	5	384	1	0	1	0	1	0	0	0	0	12283	1580	55	0	1115	0	POLR1C	6	43497022	Frame_Shift_Del	DEL	T	TCGA-DQ-5625-01A-01D-1870-08	11641052	43497022	127618045	66	73847											
SIM1	6492	broad.mit.edu	37	chr6	100841664	100841664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggagccaggcctatcGgcggggtccagaagctgcgg	6	6	18	11	3	0	1	0	0	0	1	2	2	1	2	3	6	4	2	3	6	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:100841664G>A	ENST00000369208.3	-	11	2051	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	SIM1_ENST00000262901.4_Silent_p.A423A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	423	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAGGCCTATCGGCGGGGTCCA	0.597													26	36					0	0	0	0	A	100841664	G	A	100841664	2	1	384	1	0	0	0	0	0	0	0	1	14411	1103	39	1		1	SIM1	6	100841664	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	57344642	100841664	70273403	67	73848											
FYN	2534	broad.mit.edu	37	chr6	112017481	112017481	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagaggtgttgcccaaccTttgttcatatactcggtgac	9	12	11	9	1	1	2	1	1	0	1	2	3	1	2	2	3	3	2	2	3	3	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:112017481T>A	ENST00000354650.3	-	10	1647	c.1042_splice	c.e10+1	p.K347_splice	FYN_ENST00000368682.3_Splice_Site_p.K344_splice|FYN_ENST00000229471.4_Splice_Site_p.K292_splice|FYN_ENST00000538466.1_Splice_Site_p.K344_splice|FYN_ENST00000229470.5_Splice_Site_p.K295_splice|FYN_ENST00000368678.4_Splice_Site_p.K344_splice|FYN_ENST00000356013.2_Splice_Site_p.K292_splice|FYN_ENST00000368667.2_Splice_Site_p.K347_splice	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	347	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTGCCCAACCTTTGTTCATAT	0.488													37	77					0	0	0	0	A	112017481	T	A	112017481	5	1	384	1	0	0	0	0	0	0	1	0	6174	1623	56	5	592	5	FYN	6	112017481	Splice_Site	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	11175817	112017481	59097586	68	73849											
MED23	9439	broad.mit.edu	37	chr6	131917142	131917142	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtctccagtgatttggaTaccggaagcaactctaaaaa	15	9	9	8	1	2	2	0	1	2	1	3	4	2	4	2	2	3	1	2	2	6	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:131917142T>C	ENST00000403834.3	-	22	3131	c.2958A>G	c.(2956-2958)gtA>gtG	p.V986V	MED23_ENST00000368068.3_Silent_p.V980V|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Silent_p.V986V|MED23_ENST00000545957.1_Silent_p.V621V|MED23_ENST00000368058.1_Silent_p.V986V|MED23_ENST00000368060.3_Silent_p.V980V			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	980					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTGATTTGGATACCGGAAGCA	0.378													3	123					0	0	0	0	C	131917142	T	C	131917142	2	2	384	1	0	0	0	0	0	0	0	1	9510	1393	49	5		5	MED23	6	131917142	Silent	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	19899661	131917142	39197925	69	73850											
MMD2	221938	broad.mit.edu	37	chr7	4947088	4947088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtacctccagatggcatagTagtgggtaccagcaccaaat	12	8	11	10	0	0	1	0	0	0	1	1	1	1	1	4	3	3	5	4	3	5	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:4947088T>C	ENST00000404774.3	-	7	946	c.752A>G	c.(751-753)tAc>tGc	p.Y251C	MMD2_ENST00000401401.3_Missense_Mutation_p.Y227C|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	251						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GATGGCATAGTAGTGGGTACC	0.537													11	100					0	0	0	0	C	4947088	T	C	4947088	3	2	384	1	0	0	0	0	1	0	0	0	9713	1638	57	5	64	5	MMD2	7	4947088	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08		4947088	154191575	70	73851											
WIPF3	644150	broad.mit.edu	37	chr7	29918639	29918639	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggttctaaaggaaccAacaaagaaggaggaggttct	17	7	11	6	0	2	1	0	0	2	1	2	4	2	4	1	5	2	2	1	5	8	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:29918639A>T	ENST00000409290.1	+	3	238	c.238A>T	c.(238-240)Aac>Tac	p.N80Y	WIPF3_ENST00000409123.1_Missense_Mutation_p.N80Y|WIPF3_ENST00000242140.5_Missense_Mutation_p.N80Y	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	80										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TAAAGGAACCAACAAAGAAGG	0.517													4	15					0	0	0	0	T	29918639	A	T	29918639	3	4	384	1	0	0	0	0	1	0	0	0	17465	130	5	5	248	5	WIPF3	7	29918639	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	24971551	29918639	129220024	71	73852											
ZNF713	349075	broad.mit.edu	37	chr7	55980391	55980391	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggaagaaatgaatgAtggctcacagatggtgagat	15	7	16	3	0	1	5	1	3	0	3	1	9	1	8	0	5	0	1	0	5	3	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:55980391A>T	ENST00000429591.2	+	1	61	c.23A>T	c.(22-24)gAt>gTt	p.D8V	MRPS17_ENST00000426595.1_Missense_Mutation_p.D8V|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAATGAATGATGGCTCACAG	0.408													15	18					0	0	0	0	T	55980391	A	T	55980391	3	4	384	1	0	0	0	0	1	0	0	0	18212	333	12	5	25	5	ZNF713	7	55980391	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	26061752	55980391	103158272	72	73853											
CLIP2	7461	broad.mit.edu	37	chr7	73771712	73771712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattgagcagctgctggctGaacgagacctggaacgggct	10	7	14	10	2	0	3	0	2	0	1	0	5	0	4	1	3	5	5	1	3	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:73771712G>A	ENST00000223398.6	+	6	1447	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CLIP2_ENST00000361545.5_Missense_Mutation_p.E374K|CLIP2_ENST00000395060.1_Missense_Mutation_p.E374K	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	374						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCTGCTGGCTGAACGAGACCT	0.612													5	17					0	0	0	0	A	73771712	G	A	73771712	3	1	384	1	0	0	0	0	1	0	0	0	3563	1291	45	2	1138	2	CLIP2	7	73771712	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	17791321	73771712	85366951	73	73854											
KLHDC10	23008	broad.mit.edu	37	chr7	129756398	129756398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcgggagggcctgataatGaagactatcctctcttcagg	11	10	11	9	1	2	3	1	2	1	1	5	4	3	4	2	3	0	0	2	3	4	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:129756398G>A	ENST00000335420.5	+	3	501	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	123										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCCTGATAATGAAGACTATCC	0.478													17	117					0	0	0	0	A	129756398	G	A	129756398	3	1	384	1	0	0	0	0	1	0	0	0	8407	1291	45	2	377	2	KLHDC10	7	129756398	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	55984686	129756398	29382265	74	73855											
MKLN1	4289	broad.mit.edu	37	chr7	131012684	131012684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcggagctgtcgctgCggcgcccgagtgccggcttc	2	7	18	14	6	0	0	0	0	0	0	2	2	0	1	2	5	3	4	2	5	0	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:131012684C>G	ENST00000352689.6	+	1	66	c.26C>G	c.(25-27)gCg>gGg	p.A9G	MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	9					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GCTGTCGCTGCGGCGCCCGAG	0.682													7	27					0	0	0	0	G	131012684	C	G	131012684	3	3	384	1	0	0	0	0	1	0	0	0	9672	768	27	3	61	3	MKLN1	7	131012684	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	1256286	131012684	28125979	75	73856											
PODXL	5420	broad.mit.edu	37	chr7	131189187	131189191	+	Frame_Shift_Del	DEL	AGAAG	AGAAG	-																															accttcttctcctgcatctcAgaagaggtctccatcacttc																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:131189187_131189191delAGAAG	ENST00000541194.1	-	9	1819_1823	c.1562_1566delCTTCT	c.(1561-1566)tfs	p.SS521fs	PODXL_ENST00000378555.3_Frame_Shift_Del_p.SS519fs|PODXL_ENST00000322985.9_Frame_Shift_Del_p.SS487fs|PODXL_ENST00000537928.1_Frame_Shift_Del_p.SS487fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	519					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CCTGCATCTCAGAAGAGGTCTCCAT	0.576													49	179	---	---	---	---					-	131189191	AGAAG	-	131189187	7	5	384	1	0	1	0	1	0	0	0	0	12252	175	7	0	120	0	PODXL	7	131189187	Frame_Shift_Del	DEL	AGAAG	TCGA-DQ-5625-01A-01D-1870-08	176503	131189187	27949476	76	73857											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764670	138764670	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcctggatttccatgcaaGaggtcctcttgactgccgtt	6	13	10	12	1	1	2	0	1	1	1	3	3	3	3	4	2	3	2	4	2	1	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:138764670G>C	ENST00000242351.5	-	4	1333	c.1017C>G	c.(1015-1017)ctC>ctG	p.L339L	ZC3HAV1_ENST00000471652.1_Silent_p.L339L|ZC3HAV1_ENST00000464606.1_Silent_p.L339L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	339					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCCATGCAAGAGGTCCTCTT	0.552													24	113					0	0	0	0	C	138764670	G	C	138764670	2	2	384	1	0	0	0	0	0	0	0	1	17670	929	33	2		2	ZC3HAV1	7	138764670	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	7575483	138764670	20373993	77	73858											
MGAM	8972	broad.mit.edu	37	chr7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggagggcgtcactgttgtgCggcctctgctccatgagtga	5	10	15	11	3	2	2	1	2	1	0	3	3	3	3	2	3	2	2	2	3	0	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:141795497C>T	ENST00000475668.2	+	64	7645	c.7591C>T	c.(7591-7593)Cgg>Tgg	p.R2531W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1635W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.468													71	159					0	0	0	0	T	141795497	C	T	141795497	3	4	384	1	0	0	0	0	1	0	0	0	9610	759	27	1	5061	1	MGAM	7	141795497	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	3030827	141795497	17343166	78	73859											
CNTNAP2	26047	broad.mit.edu	37	chr7	147674977	147674977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggatgctggtttcttatCatacaaagatcacctgccag	12	11	9	9	0	3	1	2	0	1	1	3	3	3	2	2	2	3	2	2	2	4	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:147674977C>T	ENST00000361727.3	+	15	2795	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	760	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTTTCTTATCATACAAAGAT	0.473										HNSCC(39;0.1)			29	67					0	0	0	0	T	147674977	C	T	147674977	3	4	384	1	0	0	0	0	1	0	0	0	3677	838	29	2	2337	2	CNTNAP2	7	147674977	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	5879480	147674977	11463686	79	73860											
C8orf22	492307	broad.mit.edu	37	chr8	49986796	49986796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattttatttaatagggtTgcctgaagtggcagaatcca	12	14	10	5	0	0	3	0	2	0	1	1	3	1	3	2	2	1	2	2	2	6	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:49986796T>C	ENST00000303202.8	+	4	310	c.137T>C	c.(136-138)tTg>tCg	p.L46S	C8orf22_ENST00000517663.1_Missense_Mutation_p.L46S|C8orf22_ENST00000399653.4_Missense_Mutation_p.L46S|C8orf22_ENST00000522267.1_Missense_Mutation_p.L46S	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	46										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTAATAGGGTTGCCTGAAGTG	0.333													6	96					0	0	0	0	C	49986796	T	C	49986796	3	2	384	1	0	0	0	0	1	0	0	0	2442	1821	63	5	147	5	C8orf22	8	49986796	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08		49986796	96377226	80	73861											
RGS20	8601	broad.mit.edu	37	chr8	54866744	54866744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcctccgaacagaattCagtgaggaaaatatgctctt	14	11	8	8	1	2	2	1	1	1	1	4	5	4	3	2	1	2	1	2	1	6	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:54866744C>A	ENST00000297313.3	+	5	944	c.852C>A	c.(850-852)ttC>ttA	p.F284L	RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_Missense_Mutation_p.F18L|RGS20_ENST00000344277.6_Missense_Mutation_p.F169L|RGS20_ENST00000276500.4_Missense_Mutation_p.F137L	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	284	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAACAGAATTCAGTGAGGAAA	0.413													17	99					1.99824e-07	2.07629e-07	1	0	A	54866744	C	A	54866744	3	1	384	1	0	0	0	0	1	0	0	0	13386	825	29	2	943	2	RGS20	8	54866744	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	4879948	54866744	91497278	81	73862											
PLAG1	5324	broad.mit.edu	37	chr8	57080731	57080731	+	Frame_Shift_Del	DEL	T	T	-																															cacacagttggcaaggaaagTtttttcttggtttggtttca																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:57080731delT	ENST00000316981.3	-	4	577	c.98delA	c.(97-99)acfs	p.N33fs	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Frame_Shift_Del_p.N33fs	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	33	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCAAGGAAAGTTTTTTCTTGG	0.453			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								17	95	---	---	---	---					-	57080731	T	-	57080731	7	5	384	1	0	1	0	1	0	0	0	0	12090	1725	60	0	1412	0	PLAG1	8	57080731	Frame_Shift_Del	DEL	T	TCGA-DQ-5625-01A-01D-1870-08	2213987	57080731	89283291	82	73863											
PMP2	5375	broad.mit.edu	37	chr8	82357103	82357103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaattcctggcctagcttGaaggagatttctgtattttt	9	17	8	7	0	2	2	1	1	1	1	3	3	3	2	2	2	1	2	2	2	4	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:82357103G>C	ENST00000256103.2	-	2	331	c.195C>G	c.(193-195)ttC>ttG	p.F65L	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	65						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GGCCTAGCTTGAAGGAGATTT	0.393													17	101					0	0	0	0	C	82357103	G	C	82357103	3	2	384	1	0	0	0	0	1	0	0	0	12210	1281	45	2	215	2	PMP2	8	82357103	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	25276372	82357103	64006919	83	73864											
NBN	4683	broad.mit.edu	37	chr8	90955524	90955524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctagttctgtattctttCgagcatgatgagctattaga	9	17	8	7	1	3	3	0	2	3	1	4	4	3	3	0	0	2	4	0	0	4	8			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:90955524C>T	ENST00000265433.3	-	14	2295	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	NBN_ENST00000409330.1_Missense_Mutation_p.R632Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	714					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.R714L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGTATTCTTTCGAGCATGATG	0.398								Homologous recombination					22	167					0	0	0	0	T	90955524	C	T	90955524	3	4	384	1	0	0	0	0	1	0	0	0	10261	884	31	1	135	1	NBN	8	90955524	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	8598421	90955524	55408498	84	73865											
KCNS2	3788	broad.mit.edu	37	chr8	99441238	99441238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtggggatttccatcttctCcgtggtggcctacaccattg	5	13	11	12	2	2	0	0	0	2	0	4	1	3	1	4	4	1	0	4	4	1	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:99441238C>T	ENST00000287042.4	+	2	1381	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	KCNS2_ENST00000521839.1_Missense_Mutation_p.S344F	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	344						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCCATCTTCTCCGTGGTGGCC	0.582													16	91					0	0	0	0	T	99441238	C	T	99441238	3	4	384	1	0	0	0	0	1	0	0	0	8142	855	30	2	1033	2	KCNS2	8	99441238	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	8485714	99441238	46922784	85	73866											
COL14A1	7373	broad.mit.edu	37	chr8	121222028	121222028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttctgaccttctactgtAcgacgtgactgagaacagca	10	10	10	11	2	2	3	0	3	2	1	2	5	2	3	1	1	4	3	1	1	3	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:121222028A>G	ENST00000297848.3	+	12	1625	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C	COL14A1_ENST00000309791.4_Missense_Mutation_p.Y452C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.Y357C|COL14A1_ENST00000537875.1_Missense_Mutation_p.Y452C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	452	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTTCTACTGTACGACGTGACT	0.453													4	124					0	0	0	0	G	121222028	A	G	121222028	3	3	384	1	0	0	0	0	1	0	0	0	3701	391	14	5	1397	5	COL14A1	8	121222028	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	21780790	121222028	25141994	86	73867											
FAM91A1	157769	broad.mit.edu	37	chr8	124810426	124810426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaattacacgctgcttgtttCcatggctcccctcaccaatg	9	12	6	14	1	1	0	1	0	0	0	3	0	3	0	4	1	2	4	4	1	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:124810426C>G	ENST00000334705.7	+	16	1754	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S503C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	503										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCTTGTTTCCATGGCTCCC	0.493													15	179					0	0	0	0	G	124810426	C	G	124810426	3	3	384	1	0	0	0	0	1	0	0	0	5696	855	30	2	1570	2	FAM91A1	8	124810426	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	3588398	124810426	21553596	87	73868											
PLEC	5339	broad.mit.edu	37	chr8	144992659	144992659	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagcgagatggtctgcTcggtgtaggggtcacggtag	8	8	19	6	3	2	2	1	0	1	2	3	4	2	3	0	6	2	3	0	6	3	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:144992659T>A	ENST00000322810.4	-	32	11910	c.11741A>T	c.(11740-11742)gAg>gTg	p.E3914V	PLEC_ENST00000398774.2_Missense_Mutation_p.E3745V|PLEC_ENST00000527096.1_Missense_Mutation_p.E3800V|PLEC_ENST00000345136.3_Missense_Mutation_p.E3777V|PLEC_ENST00000354958.2_Missense_Mutation_p.E3755V|PLEC_ENST00000436759.2_Missense_Mutation_p.E3804V|PLEC_ENST00000357649.2_Missense_Mutation_p.E3781V|PLEC_ENST00000356346.3_Missense_Mutation_p.E3763V|PLEC_ENST00000354589.3_Missense_Mutation_p.E3777V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3914	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGGTCTGCTCGGTGTAGGG	0.682													4	16					0	0	0	0	A	144992659	T	A	144992659	3	1	384	1	0	0	0	0	1	0	0	0	12124	1551	54	5	2317	5	PLEC	8	144992659	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	20182233	144992659	1371363	88	73869											
MPDZ	8777	broad.mit.edu	37	chr9	13223589	13223589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatgggccacactgccctCttgtatctcttgaacaaata	10	12	6	13	0	2	1	0	1	2	0	3	1	2	1	3	1	2	1	3	1	5	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:13223589C>T	ENST00000319217.7	-	5	761	c.514G>A	c.(514-516)Gag>Aag	p.E172K	MPDZ_ENST00000381022.2_Missense_Mutation_p.E172K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E172K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E172K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E172K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E172K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E172K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	172	PDZ 1.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACACTGCCCTCTTGTATCTCT	0.448													8	48					0	0	0	0	T	13223589	C	T	13223589	3	4	384	1	0	0	0	0	1	0	0	0	9792	922	32	2	5779	2	MPDZ	9	13223589	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08		13223589	127989842	89	73870											
IFNA8	3445	broad.mit.edu	37	chr9	21409439	21409439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatgatccagcagaccttCaacctcttcagcacaaagga	14	7	8	12	0	3	3	2	1	1	2	4	5	4	4	3	1	3	2	3	1	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:21409439C>G	ENST00000380205.1	+	1	294	c.264C>G	c.(262-264)ttC>ttG	p.F88L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	88					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AGCAGACCTTCAACCTCTTCA	0.473													29	143					0	0	0	0	G	21409439	C	G	21409439	3	3	384	1	0	0	0	0	1	0	0	0	7596	825	29	2	266	2	IFNA8	9	21409439	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	8185850	21409439	119803992	90	73871											
IARS	3376	broad.mit.edu	37	chr9	95014160	95014160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacacaatcctccatcccaTtttcaccctaatgagtaaaa	14	11	3	13	0	1	2	1	2	0	0	4	2	4	2	4	0	0	1	4	0	4	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:95014160T>C	ENST00000375643.3	-	22	2503	c.2237A>G	c.(2236-2238)aAt>aGt	p.N746S	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.N636S|IARS_ENST00000443024.2_Missense_Mutation_p.N746S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	746					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCCATCCCATTTTCACCCTA	0.328													9	46					0	0	0	0	C	95014160	T	C	95014160	3	2	384	1	0	0	0	0	1	0	0	0	7526	1493	52	5	1603	5	IARS	9	95014160	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	73604721	95014160	46199271	91	73872											
SUSD1	64420	broad.mit.edu	37	chr9	114820851	114820851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatctttggccagtagttCtgcagccacgtatccatcag	10	11	8	12	1	3	0	1	0	2	0	4	0	4	0	3	1	3	4	3	1	3	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:114820851C>T	ENST00000374270.3	-	14	2138	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	SUSD1_ENST00000374263.3_Missense_Mutation_p.E656K|SUSD1_ENST00000374264.2_Missense_Mutation_p.E656K	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	656						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCCAGTAGTTCTGCAGCCACG	0.483													30	110					0	0	0	0	T	114820851	C	T	114820851	3	4	384	1	0	0	0	0	1	0	0	0	15497	922	32	2	293	2	SUSD1	9	114820851	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	19806691	114820851	26392580	92	73873											
ZNF618	114991	broad.mit.edu	37	chr9	116811467	116811476	+	Frame_Shift_Del	DEL	GCCGGCATGT	GCCGGCATGT	-																															gcacgtccgccttctccaagGccggcatgtgccttcgctgc																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:116811467_116811476delGCCGGCATGT	ENST00000288466.7	+	14	1705_1714	c.1606_1615delGCCGGCATGT	c.(1606-1617)gcfs	p.AGMC536fs	ZNF618_ENST00000374126.5_Frame_Shift_Del_p.AGMC629fs|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CTTCTCCAAGGCCGGCATGTGCCTTCGCTG	0.624													8	112	---	---	---	---					-	116811476	GCCGGCATGT	-	116811467	7	5	384	1	0	1	0	1	0	0	0	0	18137	1203	42	0	1660	0	ZNF618	9	116811467	Frame_Shift_Del	DEL	GCCGGCATGT	TCGA-DQ-5625-01A-01D-1870-08	1990616	116811467	24401964	93	73874											
SPTAN1	6709	broad.mit.edu	37	chr9	131394439	131394439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatccgagccatgagaagtCagctcaaaaagatcgaggac	17	5	10	9	2	2	2	2	1	0	2	4	6	3	3	2	1	2	1	2	1	4	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:131394439C>G	ENST00000372739.3	+	53	6906	c.6796C>G	c.(6796-6798)Cag>Gag	p.Q2266E	SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q2261E|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q2266E	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2261					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CATGAGAAGTCAGCTCAAAAA	0.637													6	24					0	0	0	0	G	131394439	C	G	131394439	3	3	384	1	0	0	0	0	1	0	0	0	15207	827	29	2	7002	2	SPTAN1	9	131394439	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	14582972	131394439	9818992	94	73875											
SPTAN1	6709	broad.mit.edu	37	chr9	131395123	131395123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcaagaatacatggctttCatgatcagccgcgaaactga	13	10	9	9	2	2	3	2	2	0	1	2	4	2	3	1	1	4	2	1	1	4	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:131395123C>G	ENST00000372739.3	+	56	7307	c.7197C>G	c.(7195-7197)ttC>ttG	p.F2399L	SPTAN1_ENST00000372731.4_Missense_Mutation_p.F2394L|SPTAN1_ENST00000358161.5_Missense_Mutation_p.F2399L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2394	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACATGGCTTTCATGATCAGCC	0.597													26	97					0	0	0	0	G	131395123	C	G	131395123	3	3	384	1	0	0	0	0	1	0	0	0	15207	825	29	2	7415	2	SPTAN1	9	131395123	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	684	131395123	9818308	95	73876											
FIBCD1	84929	broad.mit.edu	37	chr9	133799178	133799178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagtacacctggaagcCggccgggtagtgggtgggaa	9	6	17	9	2	1	0	1	0	0	0	1	2	1	2	3	5	2	2	3	5	4	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:133799178C>T	ENST00000372338.4	-	4	1044	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	FIBCD1_ENST00000448616.1_Missense_Mutation_p.G268S|FIBCD1_ENST00000253018.4_Missense_Mutation_p.G110S|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G110S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	268	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		ACCTGGAAGCCGGCCGGGTAG	0.697													32	32					0	0	0	0	T	133799178	C	T	133799178	3	4	384	1	0	0	0	0	1	0	0	0	5929	652	23	1	599	1	FIBCD1	9	133799178	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	2404055	133799178	7414253	96	73877											
NOTCH1	4851	broad.mit.edu	37	chr9	139413087	139413087	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaggaggccacacggTcatggcaggtggcgccgtgg	9	5	18	9	3	1	1	1	0	0	1	1	2	1	2	2	7	0	2	2	7	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:139413087T>A	ENST00000277541.6	-	6	1130	c.1055A>T	c.(1054-1056)gAc>gTc	p.D352V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	352	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACGGTCATGGCAGGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	8					0	0	0	0	A	139413087	T	A	139413087	3	1	384	1	0	0	0	0	1	0	0	0	10617	1667	58	5	6728	5	NOTCH1	9	139413087	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	5613909	139413087	1800344	97	73878											
CUBN	8029	broad.mit.edu	37	chr10	17113504	17113504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagaatgacttggctttggGgctggtggatggtccaccta	7	11	16	7	0	0	2	0	1	0	1	1	4	1	3	2	7	0	2	2	7	2	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:17113504G>A	ENST00000377833.4	-	19	2611	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	849	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGCTTTGGGGCTGGTGGAT	0.458													3	63					0	0	0	0	A	17113504	G	A	17113504	3	1	384	1	0	0	0	0	1	0	0	0	4083	1232	43	4	8521	4	CUBN	10	17113504	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		17113504	118421243	98	73879											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648790	62648790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatttccagaattgcaggtgCctgcgggaaatcagcgctgc	9	9	13	10	2	1	1	1	0	0	1	2	3	2	2	2	2	5	2	2	2	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:62648790C>T	ENST00000337910.5	-	6	973	c.636G>A	c.(634-636)agG>agA	p.R212R	RHOBTB1_ENST00000357917.4_Silent_p.R212R	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	212					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATTGCAGGTGCCTGCGGGAAA	0.473													47	174					0	0	0	0	T	62648790	C	T	62648790	2	4	384	1	0	0	0	0	0	0	0	1	13416	738	26	4		4	RHOBTB1	10	62648790	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	45535286	62648790	72885957	99	73880											
WAPAL	23063	broad.mit.edu	37	chr10	88203112	88203112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgtgtttgccggcatGctgaagggctgagagaattg	8	11	14	8	1	0	3	0	2	0	1	1	4	1	3	2	2	2	4	2	2	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:88203112G>A	ENST00000298767.5	-	17	3803	c.3331C>T	c.(3331-3333)Cat>Tat	p.H1111Y	WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000263070.7_Missense_Mutation_p.H323Y|WAPAL_ENST00000372075.1_Missense_Mutation_p.H323Y	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1111	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTGCCGGCATGCTGAAGGGCT	0.398													10	45					0	0	0	0	A	88203112	G	A	88203112	3	1	384	1	0	0	0	0	1	0	0	0	17344	1319	46	4	253	4	WAPAL	10	88203112	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	25554322	88203112	47331635	100	73881											
PAPSS2	9060	broad.mit.edu	37	chr10	89472945	89472946	+	Frame_Shift_Del	DEL	AG	AG	-																															atgtccgtcatggccttaacAgaaatctcggattctctcct																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:89472945_89472946delAG	ENST00000361175.4	+	3	628_629	c.259_260delAG	c.(259-261)afs	p.R87fs	PAPSS2_ENST00000427144.2_Frame_Shift_Del_p.R91fs|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Frame_Shift_Del_p.R87fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	87					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGGCCTTAACAGAAATCTCGGA	0.51													20	114	---	---	---	---					-	89472946	AG	-	89472945	7	5	384	1	0	1	0	1	0	0	0	0	11506	180	7	0	269	0	PAPSS2	10	89472945	Frame_Shift_Del	DEL	AG	TCGA-DQ-5625-01A-01D-1870-08	1269833	89472945	46061802	101	73882											
KCNIP2	30819	broad.mit.edu	37	chr10	103588905	103588905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctgcagctgctccagaCcctcaggccggtgacacacg	7	6	11	17	2	1	2	1	1	0	1	3	2	3	2	4	2	3	4	4	2	0	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:103588905C>A	ENST00000358038.3	-	3	572	c.221G>T	c.(220-222)gGt>gTt	p.G74V	KCNIP2_ENST00000356640.2_Missense_Mutation_p.G92V|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Missense_Mutation_p.G42V|KCNIP2_ENST00000343195.4_Missense_Mutation_p.G42V|KCNIP2_ENST00000461105.1_Missense_Mutation_p.G107V|KCNIP2_ENST00000348850.5_Missense_Mutation_p.G47V|KCNIP2_ENST00000353068.3_Missense_Mutation_p.G42V	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	92					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CTGCTCCAGACCCTCAGGCCG	0.617													7	18					5.18039e-06	5.34102e-06	1	0	A	103588905	C	A	103588905	3	1	384	1	0	0	0	0	1	0	0	0	8093	507	18	4	633	4	KCNIP2	10	103588905	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	14115960	103588905	31945842	102	73883											
PPRC1	23082	broad.mit.edu	37	chr10	103901291	103901291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctccagcctccattgggaGagctgttccccaacctaaaa	10	8	8	15	0	0	1	0	0	0	1	3	2	3	1	7	1	3	2	7	1	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:103901291G>A	ENST00000278070.2	+	5	3065	c.3026G>A	c.(3025-3027)aGa>aAa	p.R1009K	PPRC1_ENST00000370012.1_5'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1009K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1009	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCATTGGGAGAGCTGTTCCC	0.572													9	40					0	0	0	0	A	103901291	G	A	103901291	3	1	384	1	0	0	0	0	1	0	0	0	12486	942	33	2	3044	2	PPRC1	10	103901291	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	312386	103901291	31633456	103	73884											
SHOC2	8036	broad.mit.edu	37	chr10	112760233	112760233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagactgtcagcaatacccaGatcattagcaaaatgcagtg	15	8	8	10	0	2	2	2	0	0	2	2	2	2	2	1	0	4	3	1	0	5	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:112760233G>C	ENST00000369452.4	+	4	1247	c.902G>C	c.(901-903)aGa>aCa	p.R301T	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Missense_Mutation_p.R255T	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	301					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCAATACCCAGATCATTAGCA	0.323													11	38					0	0	0	0	C	112760233	G	C	112760233	3	2	384	1	0	0	0	0	1	0	0	0	14375	942	33	2	912	2	SHOC2	10	112760233	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	8858942	112760233	22774514	104	73885											
PRMT3	10196	broad.mit.edu	37	chr11	20483563	20483563	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatcagccttgtagcagtGagtgatgtgaataaacatgc	13	11	10	7	0	1	3	1	3	0	0	1	3	1	3	1	0	4	2	1	0	5	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:20483563G>T	ENST00000331079.6	+	12	1327	c.1110G>T	c.(1108-1110)gtG>gtT	p.V370V	PRMT3_ENST00000437750.2_Silent_p.V308V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	370							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTGTAGCAGTGAGTGATGTGA	0.373													23	93					9.57634e-11	1.01486e-10	1	0	T	20483563	G	T	20483563	2	4	384	1	0	0	0	0	0	0	0	1	12618	1277	45	2		2	PRMT3	11	20483563	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		20483563	114522953	105	73886											
CCDC34	91057	broad.mit.edu	37	chr11	27362349	27362349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctgctatttcctttttCtcctgtatttcagcttgctg	3	23	5	10	0	3	0	1	0	2	0	5	0	4	0	2	0	3	4	2	0	2	9			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:27362349C>G	ENST00000328697.6	-	5	1474	c.801G>C	c.(799-801)gaG>gaC	p.E267D	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	267										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TTTCCTTTTTCTCCTGTATTT	0.343													16	46					0	0	0	0	G	27362349	C	G	27362349	3	3	384	1	0	0	0	0	1	0	0	0	2833	912	32	2	328	2	CCDC34	11	27362349	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	6878786	27362349	107644167	106	73887											
DCDC1	341019	broad.mit.edu	37	chr11	31329370	31329370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgatactgctgctgaatGcacgagtctgttggggccaa	8	12	12	9	1	2	2	0	2	2	0	2	3	2	2	1	2	4	4	1	2	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:31329370G>C	ENST00000597505.1	-	2	249	c.250C>G	c.(250-252)Cat>Gat	p.H84D	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000452803.1_Missense_Mutation_p.H84D			P59894	DCDC1_HUMAN	doublecortin domain containing 1	84					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCTGCTGAATGCACGAGTCTG	0.423													39	149					0	0	0	0	C	31329370	G	C	31329370	3	2	384	1	0	0	0	0	1	0	0	0	4316	1319	46	4	838	4	DCDC1	11	31329370	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	3967021	31329370	103677146	107	73888											
QSER1	79832	broad.mit.edu	37	chr11	32956153	32956153	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctaccaatcttgaatctGaagaagacagtgaagctcct	13	10	8	10	0	2	5	0	3	2	2	3	5	3	5	2	0	3	2	2	0	6	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956153G>C	ENST00000399302.2	+	4	3297	c.2962G>C	c.(2962-2964)Gaa>Caa	p.E988Q	QSER1_ENST00000527788.1_Missense_Mutation_p.E749Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	988										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTGAATCTGAAGAAGACAG	0.393													14	46					0	0	0	0	C	32956153	G	C	32956153	3	2	384	1	0	0	0	0	1	0	0	0	12964	1291	45	2	2968	2	QSER1	11	32956153	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	1626783	32956153	102050363	108	73889			1	112		3	3	688	G		1.091322e-05
QSER1	79832	broad.mit.edu	37	chr11	32956461	32956461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggaagacaacagtaatcaGaaacagctgaaaagacctgc	19	4	10	8	0	1	4	1	1	0	3	1	6	1	5	1	1	4	2	1	1	6	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956461G>C	ENST00000399302.2	+	4	3605	c.3270G>C	c.(3268-3270)caG>caC	p.Q1090H	QSER1_ENST00000527788.1_Missense_Mutation_p.Q851H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1090										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACAGTAATCAGAAACAGCTGA	0.398													21	82					0	0	0	0	C	32956461	G	C	32956461	3	2	384	1	0	0	0	0	1	0	0	0	12964	933	33	2	3276	2	QSER1	11	32956461	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	308	32956461	102050055	109	73890			1	112		3	3	688	G		1.091322e-05
QSER1	79832	broad.mit.edu	37	chr11	32956840	32956840	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtccatcagataaagttGataatgaacttaaaaacttg	18	11	6	6	0	1	3	1	2	0	1	2	3	2	3	1	0	2	1	1	0	7	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956840G>C	ENST00000399302.2	+	4	3984	c.3649G>C	c.(3649-3651)Gat>Cat	p.D1217H	QSER1_ENST00000527788.1_Missense_Mutation_p.D978H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1217										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGATAAAGTTGATAATGAACT	0.398													35	136					0	0	0	0	C	32956840	G	C	32956840	3	2	384	1	0	0	0	0	1	0	0	0	12964	1290	45	2	3655	2	QSER1	11	32956840	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	379	32956840	102049676	110	73891			1	112		3	3	688	G		1.091322e-05
ACP2	53	broad.mit.edu	37	chr11	47261735	47261735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcatccggaagaggaCggtgaggagcagcactatga	11	5	16	9	2	0	3	0	2	0	1	1	6	1	6	2	5	3	3	2	5	2	1	rs4647764		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:47261735C>T	ENST00000256997.3	-	11	1320	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	ACP2_ENST00000529444.1_Missense_Mutation_p.V339I|ACP2_ENST00000527256.1_Missense_Mutation_p.V370I|ACP2_ENST00000537863.1_Missense_Mutation_p.V215I|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000533929.1_Missense_Mutation_p.V374I	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	402			V -> I (in dbSNP:rs4647764).			integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CGGAAGAGGACGGTGAGGAGC	0.612													9	40					0	0	0	0	T	47261735	C	T	47261735	3	4	384	1	0	0	0	0	1	0	0	0	163	536	19	1	71	1	ACP2	11	47261735	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	14304895	47261735	87744781	111	73892											
NDUFS3	4722	broad.mit.edu	37	chr11	47600853	47600853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccgttctgttgctgccgGtgaggcgggagagcgccggg	3	8	18	12	5	1	2	0	1	1	1	2	3	2	2	4	4	3	3	4	4	0	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:47600853G>A	ENST00000534716.2	+	2	118	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	NDUFS3_ENST00000263774.4_Missense_Mutation_p.V34M|NDUFS3_ENST00000529276.1_Missense_Mutation_p.V34M|NDUFS3_ENST00000528192.1_Missense_Mutation_p.V34M|NDUFS3_ENST00000534208.1_Missense_Mutation_p.V34M|NDUFS3_ENST00000533507.1_Intron			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	34					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GTTGCTGCCGGTGAGGCGGGA	0.667													4	55					0	0	0	0	A	47600853	G	A	47600853	3	1	384	1	0	0	0	0	1	0	0	0	10363	1261	44	4	106	4	NDUFS3	11	47600853	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	339118	47600853	87405663	112	73893											
OR5D13	390142	broad.mit.edu	37	chr11	55540942	55540942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgaaagaaatcaaagcaGcacacccacttttattctct	15	11	4	11	0	3	2	1	1	2	1	4	2	3	2	1	0	2	2	1	0	4	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:55540942G>C	ENST00000361760.1	+	1	29	c.29G>C	c.(28-30)aGc>aCc	p.S10T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AATCAAAGCAGCACACCCACT	0.383													24	85					0	0	0	0	C	55540942	G	C	55540942	3	2	384	1	0	0	0	0	1	0	0	0	11225	971	34	4	31	4	OR5D13	11	55540942	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	7940089	55540942	79465574	113	73894											
MS4A3	932	broad.mit.edu	37	chr11	59828723	59828723	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgggaccagaagagctgaaTacttctgtctaccagcccat	11	8	10	12	1	2	3	0	1	2	2	2	4	2	4	3	1	4	1	3	1	4	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:59828723T>C	ENST00000278865.3	+	2	163	c.90T>C	c.(88-90)aaT>aaC	p.N30N	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Silent_p.N30N|MS4A3_ENST00000534744.1_Silent_p.N30N|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	30						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				AAGAGCTGAATACTTCTGTCT	0.478													35	58					0	0	0	0	C	59828723	T	C	59828723	2	2	384	1	0	0	0	0	0	0	0	1	9931	1403	49	5		5	MS4A3	11	59828723	Silent	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	4287781	59828723	75177793	114	73895											
RBM4	5936	broad.mit.edu	37	chr11	66407477	66407477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagcttcgagccaagtttGaggagtatggtccggtcatc	9	10	14	8	2	1	1	1	1	0	0	4	4	2	3	2	4	2	3	2	4	2	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:66407477G>C	ENST00000409406.1	+	1	1072	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000578778.1_Missense_Mutation_p.E99Q|RBM4_ENST00000408993.2_Missense_Mutation_p.E99Q|RBM4_ENST00000398692.4_Missense_Mutation_p.E99Q|RBM4_ENST00000532968.1_Missense_Mutation_p.E99Q|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.E99Q|RBM4_ENST00000483858.1_Missense_Mutation_p.E99Q|RBM4_ENST00000503028.2_Missense_Mutation_p.E99Q|RBM4_ENST00000506523.2_Missense_Mutation_p.E99Q|RBM4_ENST00000396053.4_Missense_Mutation_p.E99Q|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.E99Q					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGCCAAGTTTGAGGAGTATGG	0.512													57	164					0	0	0	0	C	66407477	G	C	66407477	3	2	384	1	0	0	0	0	1	0	0	0	13216	1291	45	2	297	2	RBM4	11	66407477	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	6578754	66407477	68599039	115	73896											
NUDT8	254552	broad.mit.edu	37	chr11	67395432	67395432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgtcaaagacctttattCagtcctggagtggagctggc	9	11	12	9	0	2	1	2	0	0	1	3	3	3	3	2	3	2	2	2	3	2	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:67395432C>T	ENST00000376693.2	-	4	705	c.696G>A	c.(694-696)ctG>ctA	p.L232L	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	232						mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GACCTTTATTCAGTCCTGGAG	0.642													6	28					0	0	0	0	T	67395432	C	T	67395432	2	4	384	1	0	0	0	0	0	0	0	1	10816	841	29	2		2	NUDT8	11	67395432	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	987955	67395432	67611084	116	73897											
ORAOV1	220064	broad.mit.edu	37	chr11	69486560	69486560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagtagacatttccatgCaaaagcaaaaccttggtagc	14	9	9	9	0	0	1	0	0	0	1	1	1	1	1	2	1	5	5	2	1	6	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:69486560C>G	ENST00000279147.4	-	3	291	c.184G>C	c.(184-186)Gca>Cca	p.A62P	ORAOV1_ENST00000542341.1_Missense_Mutation_p.A62P|ORAOV1_ENST00000539414.1_Missense_Mutation_p.A62P|ORAOV1_ENST00000536870.1_Intron|ORAOV1_ENST00000535657.1_Missense_Mutation_p.A62P	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	62										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CATTTCCATGCAAAAGCAAAA	0.403													15	413					0	0	0	0	G	69486560	C	G	69486560	3	3	384	1	0	0	0	0	1	0	0	0	11331	710	25	4	241	4	ORAOV1	11	69486560	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	2091128	69486560	65519956	117	73898											
ANO1	55107	broad.mit.edu	37	chr11	70031712	70031712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggtataaagactaccgaGagccgccgtggtcggaaaac	13	5	13	10	4	0	2	0	0	0	2	1	4	0	3	3	3	3	2	3	3	6	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:70031712G>C	ENST00000355303.5	+	25	2910	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Missense_Mutation_p.E578Q|ANO1_ENST00000530676.1_Missense_Mutation_p.E723Q|ANO1_ENST00000538023.1_Missense_Mutation_p.E869Q|ANO1_ENST00000398543.2_Missense_Mutation_p.E723Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	869					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGACTACCGAGAGCCGCCGTG	0.617													15	220					0	0	0	0	C	70031712	G	C	70031712	3	2	384	1	0	0	0	0	1	0	0	0	694	943	33	2	2703	2	ANO1	11	70031712	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	545152	70031712	64974804	118	73899											
MYO7A	4647	broad.mit.edu	37	chr11	76872097	76872097	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccctcccaggatgtgAagaactctcgcaggtccatc	9	8	9	15	1	1	2	0	1	1	1	6	3	4	3	4	2	2	1	4	2	2	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:76872097A>T	ENST00000409709.3	+	12	1551	c.1279A>T	c.(1279-1281)Aag>Tag	p.K427*	MYO7A_ENST00000409619.2_Nonsense_Mutation_p.K416*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.K427*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.K427*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	427	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAGGATGTGAAGAACTCTCG	0.542													8	20					0	0	0	0	T	76872097	A	T	76872097	4	4	384	1	0	0	0	0	0	1	0	0	10152	247	9	5	1321	5	MYO7A	11	76872097	Nonsense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	6840385	76872097	58134419	119	73900											
USP35	57558	broad.mit.edu	37	chr11	77911809	77911809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactgcatggtgttccggttCccgggcttcccggatctgta	4	12	12	13	3	1	0	0	0	1	0	4	1	4	1	3	4	1	5	3	4	1	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:77911809C>T	ENST00000529308.1	+	6	1413	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Silent_p.F115F|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	384					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTTCCGGTTCCCGGGCTTCC	0.622													5	26					0	0	0	0	T	77911809	C	T	77911809	2	4	384	1	0	0	0	0	0	0	0	1	17162	854	30	2		2	USP35	11	77911809	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	1039712	77911809	57094707	120	73901											
VSIG2	23584	broad.mit.edu	37	chr11	124618357	124618357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaacctgaccaggcagaaCgcagcaactgacagcaacag	15	3	11	12	1	0	3	0	2	0	1	0	4	0	4	2	2	6	4	2	2	4	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:124618357C>T	ENST00000403470.1	-	6	835	c.780G>A	c.(778-780)gcG>gcA	p.A260A	VSIG2_ENST00000326621.5_Silent_p.A260A			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	260						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCAGGCAGAACGCAGCAACTG	0.607													33	48					0	0	0	0	T	124618357	C	T	124618357	2	4	384	1	0	0	0	0	0	0	0	1	17320	523	19	1		1	VSIG2	11	124618357	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	46706548	124618357	10388159	121	73902											
KDM5A	5927	broad.mit.edu	37	chr12	463358	463358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacaaaagcaatttatcttCattgtttccccgaccacaaa	15	11	3	12	1	2	0	1	0	1	0	3	1	3	0	3	0	1	2	3	0	5	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:463358C>T	ENST00000399788.2	-	8	1275	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E305K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	305					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATTTATCTTCATTGTTTCCC	0.333			T	NUP98	AML								8	39					0	0	0	0	T	463358	C	T	463358	3	4	384	1	0	0	0	0	1	0	0	0	8185	835	29	2	4243	2	KDM5A	12	463358	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08		463358	133388537	122	73903											
WNK1	65125	broad.mit.edu	37	chr12	960910	960910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttgtcatcataaattctCattgctgctgctgccctcaa	9	16	5	11	0	4	0	4	0	1	0	5	0	4	0	1	0	4	3	1	0	4	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:960910C>T	ENST00000340908.4	+	1	52	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000540360.1_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000315939.6_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATAAATTCTCATTGCTGCTG	0.313													3	22					0	0	0	0	T	960910	C	T	960910	3	4	384	1	0	0	0	0	1	0	0	0	17473	841	29	2		2	WNK1	12	960910	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	497552	960910	132890985	123	73904											
VWF	7450	broad.mit.edu	37	chr12	6091103	6091103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgaagggtgggcaaaCggtgcggggggcaggagggt	7	6	21	7	3	1	0	0	0	1	0	2	2	2	1	1	8	2	2	1	8	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:6091103C>T	ENST00000261405.5	-	42	7390	c.7136G>A	c.(7135-7137)cGt>cAt	p.R2379H		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2379					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGGGCAAACGGTGCGGGGG	0.612													16	66					0	0	0	0	T	6091103	C	T	6091103	3	4	384	1	0	0	0	0	1	0	0	0	17342	536	19	1	1349	1	VWF	12	6091103	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	5130193	6091103	127760792	124	73905											
CD163L1	283316	broad.mit.edu	37	chr12	7522052	7522052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactcatttcctttgcaccGcatgtcatccaaccagatgg	9	12	7	13	1	2	2	2	1	0	1	4	2	4	2	4	1	2	2	4	1	1	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:7522052G>A	ENST00000313599.3	-	15	3997	c.3940C>T	c.(3940-3942)Cgg>Tgg	p.R1314W	CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1314	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTTTGCACCGCATGTCATCC	0.572													4	93					0	0	0	0	A	7522052	G	A	7522052	3	1	384	1	0	0	0	0	1	0	0	0	2997	1086	38	1	441	1	CD163L1	12	7522052	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	1430949	7522052	126329843	125	73906											
DDX11	1663	broad.mit.edu	37	chr12	31255240	31255241	+	Frame_Shift_Ins	INS	-	-	T																															gctggcatattccaggtgcaINStccaggtgcgggcgtcatgc																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:31255240_31255241insT	ENST00000407793.2	+	22	2517_2518	c.2266_2267insT	c.(2266-2268)ccafs	p.P756fs	DDX11_ENST00000545668.1_Frame_Shift_Ins_p.P756fs|DDX11_ENST00000228264.6_Frame_Shift_Ins_p.P730fs|DDX11_ENST00000350437.4_Frame_Shift_Ins_p.P706fs|DDX11_ENST00000542838.1_Frame_Shift_Ins_p.P756fs|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	756					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCCAGGTGCATCCAGGTGCGG	0.559										Multiple Myeloma(12;0.14)			21	91	---	---	---	---					T	31255241	-	T	31255240	7	5	384	1	0	1	1	0	0	0	0	0	4375	217	8	0	2348	0	DDX11	12	31255240	Frame_Shift_Ins	INS	-	TCGA-DQ-5625-01A-01D-1870-08	23733188	31255240	102596655	126	73907											
BICD1	636	broad.mit.edu	37	chr12	32490488	32490488	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagacagttagcagctgcaGaggatgagaagaagactctg	15	6	14	6	0	1	5	0	1	1	5	1	8	1	6	0	1	3	4	0	1	3	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:32490488G>C	ENST00000548411.1	+	7	2489	c.2308G>C	c.(2308-2310)Gag>Cag	p.E770Q	BICD1_ENST00000281474.5_Missense_Mutation_p.E770Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	770	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCAGCTGCAGAGGATGAGAA	0.463													10	39					0	0	0	0	C	32490488	G	C	32490488	3	2	384	1	0	0	0	0	1	0	0	0	1433	943	33	2	2334	2	BICD1	12	32490488	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	1235248	32490488	101361407	127	73908											
RACGAP1	29127	broad.mit.edu	37	chr12	50388028	50388028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatcatccactttgctgaGgaggggtacagttttcactc	9	13	10	9	0	2	1	2	1	0	0	4	3	3	2	1	3	2	3	1	3	2	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:50388028G>C	ENST00000434422.1	-	13	1526	c.1225C>G	c.(1225-1227)Ctc>Gtc	p.L409V	RACGAP1_ENST00000551016.1_Missense_Mutation_p.L409V|RACGAP1_ENST00000547905.1_Missense_Mutation_p.L409V|RACGAP1_ENST00000454520.2_Missense_Mutation_p.L409V|RACGAP1_ENST00000427314.2_Missense_Mutation_p.L409V|RACGAP1_ENST00000312377.5_Missense_Mutation_p.L409V			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	409	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACTTTGCTGAGGAGGGGTACA	0.438													26	91					0	0	0	0	C	50388028	G	C	50388028	3	2	384	1	0	0	0	0	1	0	0	0	13059	1000	35	4	697	4	RACGAP1	12	50388028	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	17897540	50388028	83463867	128	73909											
TMPRSS12	283471	broad.mit.edu	37	chr12	51279041	51279041	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaacaggtaacgctacaaAtattttacaagatgcagaag	17	10	8	6	1	0	2	0	0	0	2	0	2	0	2	0	1	5	4	0	1	8	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:51279041A>T	ENST00000551456.1	+	4	710	c.665A>T	c.(664-666)aAt>aTt	p.N222I	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.N222I			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	222	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AACGCTACAAATATTTTACAA	0.328													20	85					0	0	0	0	T	51279041	A	T	51279041	3	4	384	1	0	0	0	0	1	0	0	0	16338	101	4	5	679	5	TMPRSS12	12	51279041	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	891013	51279041	82572854	129	73910											
RARG	5916	broad.mit.edu	37	chr12	53605612	53605612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taagggaggcatcgggcctgGaatctccatcttcagagtaa	11	9	12	9	1	3	1	1	0	2	1	5	3	3	3	2	4	0	2	2	4	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:53605612G>C	ENST00000425354.2	-	10	1700	c.1213C>G	c.(1213-1215)Cca>Gca	p.P405A	RARG_ENST00000394426.1_Missense_Mutation_p.P405A|RARG_ENST00000338561.5_Missense_Mutation_p.P394A|RARG_ENST00000327550.3_Missense_Mutation_p.P333A|RARG_ENST00000543726.1_Missense_Mutation_p.P383A|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	405	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATCGGGCCTGGAATCTCCATC	0.547													19	61					0	0	0	0	C	53605612	G	C	53605612	3	2	384	1	0	0	0	0	1	0	0	0	13136	1174	41	2	155	2	RARG	12	53605612	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	2326571	53605612	80246283	130	73911											
SHMT2	6472	broad.mit.edu	37	chr12	57627425	57627425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagatgccctgctagagcGaggctactcactggtatcag	9	8	13	11	1	2	2	2	0	0	2	2	3	2	2	1	3	4	4	1	3	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:57627425G>A	ENST00000328923.3	+	9	1555	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	SHMT2_ENST00000393827.4_Missense_Mutation_p.R272Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R347Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R347Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R347Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.R358Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	368						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGCTAGAGCGAGGCTACTCA	0.587													7	34					0	0	0	0	A	57627425	G	A	57627425	3	1	384	1	0	0	0	0	1	0	0	0	14374	1058	37	1	1137	1	SHMT2	12	57627425	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	4021813	57627425	76224470	131	73912											
PTPRB	5787	broad.mit.edu	37	chr12	70964817	70964817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattacctgtgaagcccTcaatgaaggctgactgctgt	10	11	9	11	0	2	3	2	3	0	0	2	3	2	3	2	1	3	2	2	1	4	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:70964817T>C	ENST00000334414.6	-	13	3403	c.3359A>G	c.(3358-3360)gAg>gGg	p.E1120G	PTPRB_ENST00000550358.1_Missense_Mutation_p.E1032G|PTPRB_ENST00000538708.1_Missense_Mutation_p.E902G|PTPRB_ENST00000451516.2_Missense_Mutation_p.E812G|PTPRB_ENST00000261266.5_Missense_Mutation_p.E902G|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1119G|PTPRB_ENST00000550857.1_Missense_Mutation_p.E812G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	902	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTGAAGCCCTCAATGAAGGC	0.443													3	44					0	0	0	0	C	70964817	T	C	70964817	3	2	384	1	0	0	0	0	1	0	0	0	12878	1551	54	5	3376	5	PTPRB	12	70964817	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	13337392	70964817	62887078	132	73913											
BBS10	79738	broad.mit.edu	37	chr12	76740543	76740543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagcatcctcatgttgttCaatgagaccatgcactggtc	11	12	8	10	0	2	1	2	1	0	1	4	2	3	1	2	1	2	4	2	1	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:76740543C>T	ENST00000393262.3	-	2	1305	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	408					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TCATGTTGTTCAATGAGACCA	0.368									Bardet-Biedl syndrome				17	43					0	0	0	0	T	76740543	C	T	76740543	3	4	384	1	0	0	0	0	1	0	0	0	1340	835	29	2	953	2	BBS10	12	76740543	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	5775726	76740543	57111352	133	73914											
ANO4	121601	broad.mit.edu	37	chr12	101510524	101510524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgactttgagaaccgatctGagcctgaatctgatggcagt	10	11	11	9	1	2	5	0	5	2	1	2	7	2	5	2	1	2	1	2	1	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:101510524G>A	ENST00000392979.3	+	24	2774	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	ANO4_ENST00000392977.3_Missense_Mutation_p.E840K|ANO4_ENST00000299222.9_Missense_Mutation_p.E360K|ANO4_ENST00000550015.1_Missense_Mutation_p.E360K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	840						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACCGATCTGAGCCTGAATC	0.512										HNSCC(74;0.22)			23	93					0	0	0	0	A	101510524	G	A	101510524	3	1	384	1	0	0	0	0	1	0	0	0	698	1291	45	2	2503	2	ANO4	12	101510524	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	24769981	101510524	32341371	134	73915											
CLIP1	6249	broad.mit.edu	37	chr12	122825752	122825752	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgttggtaatctagtcTcattttctctatttgtgttt	5	23	7	6	1	3	0	1	0	3	0	6	0	3	0	0	1	0	3	0	1	3	9			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:122825752T>G	ENST00000358808.2	-	10	2120	c.1966A>C	c.(1966-1968)Aga>Cga	p.R656R	CLIP1_ENST00000537178.1_Silent_p.R621R|CLIP1_ENST00000545889.1_Silent_p.R357R|CLIP1_ENST00000540338.1_Silent_p.R667R|CLIP1_ENST00000302528.7_Silent_p.R656R|CLIP1_ENST00000361654.4_Silent_p.R621R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	667					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TAATCTAGTCTCATTTTCTCT	0.433													35	119					0	0	0	0	G	122825752	T	G	122825752	2	3	384	1	0	0	0	0	0	0	0	1	3562	1559	54	5		5	CLIP1	12	122825752	Silent	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	21315228	122825752	11026143	135	73916											
GOLGA3	2802	broad.mit.edu	37	chr12	133363026	133363026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggcctcctgcaggcggcGgctgaggatgcccacggcgt	5	5	18	13	4	0	1	0	1	0	0	1	3	1	2	3	6	2	2	3	6	0	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:133363026G>A	ENST00000204726.3	-	15	3580	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R1008C|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R1008C|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1008C|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1008C	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1008					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAGGCGGCGGCTGAGGATG	0.657													9	13					0	0	0	0	A	133363026	G	A	133363026	3	1	384	1	0	0	0	0	1	0	0	0	6605	1116	39	1	1652	1	GOLGA3	12	133363026	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	10537274	133363026	488869	136	73917											
PARP4	143	broad.mit.edu	37	chr13	25008562	25008562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactgaggagttctgtccAaggcacagcatcctgccagt	10	9	11	11	0	1	2	0	1	1	1	3	3	3	3	3	2	2	3	3	2	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:25008562A>G	ENST00000381989.3	-	31	4822	c.4717T>C	c.(4717-4719)Tgg>Cgg	p.W1573R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1573	Interaction with the major vault protein.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGTTCTGTCCAAGGCACAGCA	0.423													14	60					0	0	0	0	G	25008562	A	G	25008562	3	3	384	1	0	0	0	0	1	0	0	0	11534	130	5	5	473	5	PARP4	13	25008562	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08		25008562	90161316	137	73918											
B3GALTL	145173	broad.mit.edu	37	chr13	31821997	31821997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttcttttggtcagtttttCtgtaacatatagcagaaatt	10	19	7	5	0	3	1	1	0	2	1	3	1	3	1	0	1	2	4	0	1	4	9			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:31821997C>G	ENST00000343307.4	+	6	502	c.353C>G	c.(352-354)tCt>tGt	p.S118C		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	118					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GTCAGTTTTTCTGTAACATAT	0.338													6	14					0	0	0	0	G	31821997	C	G	31821997	3	3	384	1	0	0	0	0	1	0	0	0	1256	913	32	2	375	2	B3GALTL	13	31821997	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	6813435	31821997	83347881	138	73919											
ZIC2	7546	broad.mit.edu	37	chr13	100635121	100635121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaccccgagcaactgagcaAtcccaagaagagctgcaaca	15	3	9	14	2	0	3	0	1	0	2	1	5	1	3	3	0	6	4	3	0	5	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:100635121A>G	ENST00000376335.3	+	1	1096	c.803A>G	c.(802-804)aAt>aGt	p.N268S		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	268					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAACTGAGCAATCCCAAGAAG	0.587													24	92					0	0	0	0	G	100635121	A	G	100635121	3	3	384	1	0	0	0	0	1	0	0	0	17774	101	4	5	805	5	ZIC2	13	100635121	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	68813124	100635121	14534757	139	73920											
NEDD8	4738	broad.mit.edu	37	chr14	24686415	24686415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttgtaatcagctgctGtcttctcatcattcctgcag	9	15	6	11	0	5	0	3	0	3	0	7	0	6	0	1	0	3	4	1	0	2	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:24686415G>C	ENST00000250495.5	-	4	350	c.164C>G	c.(163-165)aCa>aGa	p.T55R	NEDD8-MDP1_ENST00000604306.1_Intron|NEDD8-MDP1_ENST00000534348.1_Intron	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		ATCAGCTGCTGTCTTCTCATC	0.418													14	30					0	0	0	0	C	24686415	G	C	24686415	3	2	384	1	0	0	0	0	1	0	0	0	10382	1377	48	4	85	4	NEDD8	14	24686415	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		24686415	82663125	140	73921											
MDGA2	161357	broad.mit.edu	37	chr14	47504314	47504314	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacatttccctagatacAttcacaatcctcagtgttcc	10	13	4	14	0	2	2	2	1	0	1	5	2	5	2	4	0	1	1	4	0	3	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:47504314A>C	ENST00000426342.1	-	8	1571	c.825T>G	c.(823-825)aaT>aaG	p.N275K	MDGA2_ENST00000357362.3_Missense_Mutation_p.N275K|MDGA2_ENST00000399232.2_Missense_Mutation_p.N573K|MDGA2_ENST00000439988.2_Missense_Mutation_p.N504K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	504	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCTAGATACATTCACAATCC	0.428													23	122					0	0	0	0	C	47504314	A	C	47504314	3	2	384	1	0	0	0	0	1	0	0	0	9476	214	8	5	1398	5	MDGA2	14	47504314	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	22817899	47504314	59845226	141	73922											
SOS2	6655	broad.mit.edu	37	chr14	50597372	50597372	+	Missense_Mutation	SNP	C	C	T																															aaagcttattttacatggttCtctttctaatggtgttgggt																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:50597372C>T	ENST00000216373.5	-	20	3458	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K	SOS2_ENST00000543680.1_Missense_Mutation_p.E1029K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1062					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTACATGGTTCTCTTTCTAAT	0.438													15	77					0	0	0	0	T	50597372	C	T	50597372	3	4	384	1	0	0	0	0	1	0	0	0	15025	922	32	2	830	2	SOS2	14	50597372	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	3093058	50597372	56752168	142	73923	998	2									
SOS2	6655	broad.mit.edu	37	chr14	50597378	50597378	+	Missense_Mutation	SNP	C	C	T																															tattttacatggttctctttCtaatggtgttgggtgacctc																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:50597378C>T	ENST00000216373.5	-	20	3452	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	SOS2_ENST00000543680.1_Missense_Mutation_p.E1027K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1060					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTTCTCTTTCTAATGGTGTT	0.438													16	74					0	0	0	0	T	50597378	C	T	50597378	3	4	384	1	0	0	0	0	1	0	0	0	15025	922	32	2	836	2	SOS2	14	50597378	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	6	50597378	56752162	143	73924	998	2									
NRXN3	9369	broad.mit.edu	37	chr14	79175742	79175742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaacactaaacgtatGggctccatctcctttgactt	11	12	8	10	1	1	1	0	1	1	0	3	2	2	2	2	2	2	2	2	2	5	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:79175742G>T	ENST00000554719.1	+	4	776	c.285G>T	c.(283-285)atG>atT	p.M95I	NRXN3_ENST00000335750.5_Missense_Mutation_p.M95I|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTAAACGTATGGGCTCCATCT	0.517													16	73					6.31663e-08	6.6412e-08	1	0	T	79175742	G	T	79175742	3	4	384	1	0	0	0	0	1	0	0	0	10738	1348	47	4	291	4	NRXN3	14	79175742	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	28578364	79175742	28173798	144	73925											
DICER1	23405	broad.mit.edu	37	chr14	95596530	95596530	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaagtcataatgagaacCtaaaataaaatcaacatcag	21	8	5	7	0	3	1	3	1	0	1	3	2	3	1	1	0	3	1	1	0	9	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:95596530C>T	ENST00000526495.1	-	7	730		c.e7-1		DICER1_ENST00000527414.1_Splice_Site|DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAATGAGAACCTAAAATAAAA	0.333			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	20					0	0	0	0	T	95596530	C	T	95596530	5	4	384	1	0	0	0	0	0	0	1	0	4558	695	24	4	5422	4	DICER1	14	95596530	Splice_Site	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	16420788	95596530	11753010	145	73926											
ATP10A	57194	broad.mit.edu	37	chr15	25924588	25924588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaggaagtccacgtcccGcttgtccatctgcaagctgc	8	8	11	14	2	1	0	0	0	1	0	4	2	4	2	3	2	3	3	3	2	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:25924588G>A	ENST00000356865.6	-	21	4511	c.4400C>T	c.(4399-4401)gCg>gTg	p.A1467V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1467					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCACGTCCCGCTTGTCCATC	0.567													10	40					0	0	0	0	A	25924588	G	A	25924588	3	1	384	1	0	0	0	0	1	0	0	0	1120	1087	38	1	103	1	ATP10A	15	25924588	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		25924588	76606804	146	73927											
SERF2	10169	broad.mit.edu	37	chr15	44085227	44085227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgaaaaagcagagcgactCggttaagggaaagcgccgag	15	5	14	7	4	0	2	0	1	0	1	1	5	0	3	1	2	3	2	1	2	5	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:44085227C>T	ENST00000381359.1	+	4	991	c.62C>T	c.(61-63)tCg>tTg	p.S21L	SERF2_ENST00000594896.1_5'UTR|SERF2_ENST00000339624.5_Missense_Mutation_p.S21L|SERF2_ENST00000409646.1_Missense_Mutation_p.S21L|SERF2_ENST00000403425.1_Missense_Mutation_p.S7L|SERF2_ENST00000402131.1_Missense_Mutation_p.S7L|SERF2_ENST00000249786.4_Missense_Mutation_p.S21L|SERF2_ENST00000409291.1_Missense_Mutation_p.S7L|SERF2_ENST00000409614.1_Missense_Mutation_p.S7L|SERF2_ENST00000409960.2_Missense_Mutation_p.S21L|RP11-296A16.1_ENST00000417761.2_Intron	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	21						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGAGCGACTCGGTTAAGGGA	0.597													6	24					0	0	0	0	T	44085227	C	T	44085227	3	4	384	1	0	0	0	0	1	0	0	0	14163	893	31	1	68	1	SERF2	15	44085227	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	18160639	44085227	58446165	147	73928											
SQRDL	58472	broad.mit.edu	37	chr15	45962152	45962152	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgatatcttattattgcTctcggaatccagctggacta	10	14	7	10	2	2	0	0	0	2	0	4	3	3	2	2	2	3	2	2	2	6	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:45962152T>G	ENST00000260324.7	+	4	818	c.432T>G	c.(430-432)gcT>gcG	p.A144A	RP11-96O20.4_ENST00000564080.1_Silent_p.A144A|SQRDL_ENST00000568606.1_Silent_p.A144A	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	144							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TTATTATTGCTCTCGGAATCC	0.433													27	156					0	0	0	0	G	45962152	T	G	45962152	2	3	384	1	0	0	0	0	0	0	0	1	15219	1538	54	5		5	SQRDL	15	45962152	Silent	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	1876925	45962152	56569240	148	73929											
RASGRF1	5923	broad.mit.edu	37	chr15	79339164	79339164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccatccgcagcgggcGcaggaaattgttgacaagga	10	5	16	10	4	0	1	0	1	0	0	1	3	1	3	2	5	1	3	2	5	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:79339164G>A	ENST00000419573.3	-	5	1076	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R268C|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	268	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.R268C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGCAGCGGGCGCAGGAAATTG	0.587													13	75					0	0	0	0	A	79339164	G	A	79339164	3	1	384	1	0	0	0	0	1	0	0	0	13154	1087	38	1	3115	1	RASGRF1	15	79339164	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	33377012	79339164	23192228	149	73930											
IL16	3603	broad.mit.edu	37	chr15	81598343	81598343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacggcaagtctctcaaggGgaccacgcaccatgatgcct	11	6	10	14	2	2	1	1	1	1	0	3	2	2	2	3	3	2	2	3	3	3	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:81598343G>A	ENST00000394660.2	+	17	3875	c.3515G>A	c.(3514-3516)gGg>gAg	p.G1172E	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.G471E|IL16_ENST00000302987.4_Missense_Mutation_p.G1172E	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1172	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCTCTCAAGGGGACCACGCAC	0.567													38	152					0	0	0	0	A	81598343	G	A	81598343	3	1	384	1	0	0	0	0	1	0	0	0	7686	1232	43	4	3577	4	IL16	15	81598343	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	2259179	81598343	20933049	150	73931											
SH3GL3	6457	broad.mit.edu	37	chr15	84241361	84241361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccatgaagctaatggctGaggtgaaagactctcttgat	13	11	10	7	0	1	5	0	4	1	1	3	5	2	5	1	2	1	2	1	2	4	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:84241361G>A	ENST00000324537.5	+	8	892	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SH3GL3_ENST00000427482.2_Missense_Mutation_p.E126K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.E126K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E134K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	126	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTAATGGCTGAGGTGAAAGA	0.353													10	54					0	0	0	0	A	84241361	G	A	84241361	3	1	384	1	0	0	0	0	1	0	0	0	14340	1291	45	2	394	2	SH3GL3	15	84241361	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	2643018	84241361	18290031	151	73932											
CHSY1	22856	broad.mit.edu	37	chr15	101791398	101791398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcggtcatgactcccacGaagagaaagttcctgtcgcg	9	8	13	11	4	1	2	1	1	0	1	4	4	3	2	2	2	0	1	2	2	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:101791398G>A	ENST00000254190.3	-	1	739	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	88					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGACTCCCACGAAGAGAAAGT	0.736													5	8					0	0	0	0	A	101791398	G	A	101791398	2	1	384	1	0	0	0	0	0	0	0	1	3441	1049	37	1		1	CHSY1	15	101791398	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	17550037	101791398	739994	152	73933											
USP7	7874	broad.mit.edu	37	chr16	8989591	8989591	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattttgtagcttacaatttCtagcagcctgaacagagagg	12	12	10	7	0	1	2	0	1	1	1	1	4	1	2	1	1	5	3	1	1	5	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:8989591C>G	ENST00000344836.4	-	27	3025	c.2827G>C	c.(2827-2829)Gaa>Caa	p.E943Q	USP7_ENST00000381886.4_Missense_Mutation_p.E927Q|USP7_ENST00000535863.1_Missense_Mutation_p.E844Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	943					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTACAATTTCTAGCAGCCTG	0.333													17	24					0	0	0	0	G	8989591	C	G	8989591	3	3	384	1	0	0	0	0	1	0	0	0	17184	922	32	2	501	2	USP7	16	8989591	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08		8989591	81365162	153	73934											
IGSF6	10261	broad.mit.edu	37	chr16	21654396	21654396	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgacattttacacttacaGattgctgatttgtttccaca	10	18	5	8	0	0	3	0	2	0	1	1	3	1	3	1	0	3	2	1	0	2	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:21654396G>A	ENST00000268389.4	-	5	726	c.666_splice	c.e5+1	p.S222_splice	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	222					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TACACTTACAGATTGCTGATT	0.338													44	62					0	0	0	0	A	21654396	G	A	21654396	5	1	384	1	0	0	0	0	0	0	1	0	7656	956	33	2	68	2	IGSF6	16	21654396	Splice_Site	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	12664805	21654396	68700357	154	73935											
ZNF423	23090	broad.mit.edu	37	chr16	49764853	49764853	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcgcacggctggttttctGatcgcactctggctctcctt	4	13	10	14	3	3	1	0	1	3	0	5	1	3	1	1	3	1	5	1	3	0	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:49764853G>C	ENST00000563137.2	-	0	490				ZNF423_ENST00000562520.1_De_novo_Start_OutOfFrame|ZNF423_ENST00000262383.2_Missense_Mutation_p.Q36E|ZNF423_ENST00000562871.1_De_novo_Start_OutOfFrame|ZNF423_ENST00000561648.1_Missense_Mutation_p.Q36E			Q2M1K9	ZN423_HUMAN	zinc finger protein 423						cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGGTTTTCTGATCGCACTCT	0.498													45	181					0	0	0	0	C	49764853	G	C	49764853	1	2	384	1	0	0	0	0	0	0	0	0	17993	1299	45	2		2	ZNF423	16	49764853	Translation_Start_Site	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	28110457	49764853	40589900	155	73936											
SALL1	6299	broad.mit.edu	37	chr16	51172806	51172806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagacagaggcccagaCgggacgtgactggtgggggt	10	4	20	7	2	0	4	0	1	0	3	0	7	0	6	1	6	0	0	1	6	1	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:51172806C>T	ENST00000440970.1	-	2	3467	c.3036G>A	c.(3034-3036)ccG>ccA	p.P1012P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P1109P|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1109					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGCCCAGACGGGACGTGAC	0.562													19	33					0	0	0	0	T	51172806	C	T	51172806	2	4	384	1	0	0	0	0	0	0	0	1	13895	523	19	1		1	SALL1	16	51172806	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	1407953	51172806	39181947	156	73937											
CNGB1	1258	broad.mit.edu	37	chr16	57953078	57953078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacttgcagcagagcatgtCgcaatagtgctcctcttcca	10	10	9	12	1	1	1	0	0	1	1	4	2	3	1	2	0	5	5	2	0	3	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:57953078C>T	ENST00000564448.1	-	20	1924	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	CNGB1_ENST00000251102.8_Missense_Mutation_p.D628N			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	628					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGAGCATGTCGCAATAGTGC	0.577													19	37					0	0	0	0	T	57953078	C	T	57953078	3	4	384	1	0	0	0	0	1	0	0	0	3630	884	31	1	1929	1	CNGB1	16	57953078	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	6780272	57953078	32401675	157	73938											
CES2	8824	broad.mit.edu	37	chr16	66975486	66975486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctggcctctgccgaCtttcagcctgtccctagcat	5	11	10	15	1	2	0	1	0	1	0	3	2	3	0	4	1	5	3	4	1	1	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:66975486C>G	ENST00000317091.4	+	7	2169	c.1185C>G	c.(1183-1185)gaC>gaG	p.D395E	CES2_ENST00000417689.1_Missense_Mutation_p.D395E	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	331					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCTCTGCCGACTTTCAGCCTG	0.592													11	34					0	0	0	0	G	66975486	C	G	66975486	3	3	384	1	0	0	0	0	1	0	0	0	3299	564	20	4	1211	4	CES2	16	66975486	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	9022408	66975486	23379267	158	73939											
AP1G1	164	broad.mit.edu	37	chr16	71823366	71823366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccggatcagctcccgcaatCtgatgggggctggcatcctc	6	9	12	14	2	2	1	1	1	1	0	6	2	5	2	3	4	1	4	3	4	1	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:71823366C>G	ENST00000299980.4	-	2	458	c.17G>C	c.(16-18)aGa>aCa	p.R6T	AP1G1_ENST00000433195.2_Missense_Mutation_p.R29T|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000393512.3_Missense_Mutation_p.R6T|AP1G1_ENST00000569748.1_Missense_Mutation_p.R6T|AP1G1_ENST00000423132.2_Missense_Mutation_p.R6T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	6					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTCCCGCAATCTGATGGGGGC	0.438													15	66					0	0	0	0	G	71823366	C	G	71823366	3	3	384	1	0	0	0	0	1	0	0	0	733	913	32	2	2552	2	AP1G1	16	71823366	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	4847880	71823366	18531387	159	73940											
DHODH	1723	broad.mit.edu	37	chr16	72046112	72046112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagactggctgttcgcttcaCctccctggggctccttccac	4	11	9	17	1	1	1	1	0	0	1	5	1	4	1	4	3	0	4	4	3	0	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:72046112C>A	ENST00000572887.1	+	2	362	c.185C>A	c.(184-186)aCc>aAc	p.T62N	DHODH_ENST00000219240.4_Missense_Mutation_p.T62N			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	62					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GTTCGCTTCACCTCCCTGGGG	0.567													16	58					9.7654e-05	0.000100293	1	0	A	72046112	C	A	72046112	3	1	384	1	0	0	0	0	1	0	0	0	4521	507	18	4	191	4	DHODH	16	72046112	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	222746	72046112	18308641	160	73941											
ZFHX3	463	broad.mit.edu	37	chr16	72821072	72821072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcaaagcttacaatctGaaggtgtccgttcctacact	11	13	6	11	1	3	1	1	1	2	0	5	1	5	1	2	1	3	2	2	1	5	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:72821072G>A	ENST00000268489.5	-	10	11775	c.11103C>T	c.(11101-11103)ttC>ttT	p.F3701F	ZFHX3_ENST00000397992.5_Silent_p.F2787F|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3701					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTACAATCTGAAGGTGTCCG	0.438													46	172					0	0	0	0	A	72821072	G	A	72821072	2	1	384	1	0	0	0	0	0	0	0	1	17729	1281	45	2		2	ZFHX3	16	72821072	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	774960	72821072	17533681	161	73942											
MINK1	50488	broad.mit.edu	37	chr17	4799024	4799024	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcgggtgtattacctGtcctggctccggaacaagat	10	10	11	10	2	0	1	0	0	0	1	2	2	2	2	3	3	4	2	3	3	5	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:4799024G>T	ENST00000355280.6	+	27	3457	c.3261G>T	c.(3259-3261)ctG>ctT	p.L1087L	MINK1_ENST00000453408.3_Silent_p.L1067L|MINK1_ENST00000347992.7_Silent_p.L1058L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1087	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGTATTACCTGTCCTGGCTCC	0.602													4	20					0.00024832	0.00025405	1	0	T	4799024	G	T	4799024	2	4	384	1	0	0	0	0	0	0	0	1	9656	1364	48	4		4	MINK1	17	4799024	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		4799024	76396186	162	73943											
TEKT1	83659	broad.mit.edu	37	chr17	6722633	6722633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaagctgctcaagtttgtCatctaactccttcttccaga	10	13	5	13	0	4	1	2	0	2	1	6	1	6	1	2	0	3	3	2	0	3	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722633C>T	ENST00000338694.2	-	3	364	c.235G>A	c.(235-237)Gac>Aac	p.D79N	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	79					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCAAGTTTGTCATCTAACTCC	0.448													10	36					0	0	0	0	T	6722633	C	T	6722633	3	4	384	1	0	0	0	0	1	0	0	0	15846	826	29	2	1045	2	TEKT1	17	6722633	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	1923609	6722633	74472577	163	73944											
TEKT1	83659	broad.mit.edu	37	chr17	6722667	6722667	+	Silent	SNP	G	G	C																															ttccagaactggacttcctcGagtctctgttctgaagcaca																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722667G>C	ENST00000338694.2	-	3	330	c.201C>G	c.(199-201)ctC>ctG	p.L67L	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	67					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GGACTTCCTCGAGTCTCTGTT	0.408													8	24					0	0	0	0	C	6722667	G	C	6722667	2	2	384	1	0	0	0	0	0	0	0	1	15846	1045	37	3		3	TEKT1	17	6722667	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	34	6722667	74472543	164	73945	999	2									
TEKT1	83659	broad.mit.edu	37	chr17	6722673	6722673	+	Missense_Mutation	SNP	C	C	G																															aactggacttcctcgagtctCtgttctgaagcacacgggga																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722673C>G	ENST00000338694.2	-	3	324	c.195G>C	c.(193-195)caG>caC	p.Q65H	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	65					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTCGAGTCTCTGTTCTGAAG	0.418													5	24					0	0	0	0	G	6722673	C	G	6722673	3	3	384	1	0	0	0	0	1	0	0	0	15846	912	32	2	1085	2	TEKT1	17	6722673	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	6	6722673	74472537	165	73946	999	2									
YBX2	51087	broad.mit.edu	37	chr17	7192917	7192917	+	Nonsense_Mutation	SNP	G	G	A																															ggcctgctgccgtctccgctGgaagtaggggcggtttcgtg																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7192917G>A	ENST00000007699.5	-	7	1039	c.976C>T	c.(976-978)Cag>Tag	p.Q326*		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	326	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGTCTCCGCTGGAAGTAGGGG	0.682													10	36					0	0	0	0	A	7192917	G	A	7192917	4	1	384	1	0	0	0	0	0	1	0	0	17566	1357	47	4	126	4	YBX2	17	7192917	Nonsense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	470244	7192917	74002293	166	73947	1000	2									
YBX2	51087	broad.mit.edu	37	chr17	7192918	7192918	+	Silent	SNP	G	G	A																															gcctgctgccgtctccgctgGaagtaggggcggtttcgtgg																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7192918G>A	ENST00000007699.5	-	7	1038	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	325	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GTCTCCGCTGGAAGTAGGGGC	0.677													10	37					0	0	0	0	A	7192918	G	A	7192918	2	1	384	1	0	0	0	0	0	0	0	1	17566	1165	41	2		2	YBX2	17	7192918	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	1	7192918	74002292	167	73948	1000	2									
YBX2	51087	broad.mit.edu	37	chr17	7193599	7193599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctggttgggaggccGggggcctcgcacaaaccgcc	5	6	16	14	3	0	0	0	0	0	0	1	1	0	1	4	5	3	4	4	5	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7193599G>A	ENST00000007699.5	-	5	778	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	239	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622													39	161					0	0	0	0	A	7193599	G	A	7193599	3	1	384	1	0	0	0	0	1	0	0	0	17566	1115	39	1	395	1	YBX2	17	7193599	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	681	7193599	74001611	168	73949											
USP43	124739	broad.mit.edu	37	chr17	9631983	9631983	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaatgagagggcagaggtCtctccacaggtgccccccgt	9	6	14	12	1	1	2	0	1	1	2	3	4	2	3	4	4	1	1	4	4	1	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:9631983C>G	ENST00000570827.2	+	15	3189	c.2115C>G	c.(2113-2115)gtC>gtG	p.V705V	USP43_ENST00000285199.6_Silent_p.V1016V|USP43_ENST00000570475.1_Silent_p.V1011V			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1016					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGGCAGAGGTCTCTCCACAGG	0.642													9	9					0	0	0	0	G	9631983	C	G	9631983	2	3	384	1	0	0	0	0	0	0	0	1	17170	900	32	2		2	USP43	17	9631983	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	2438384	9631983	71563227	169	73950											
MYH13	8735	broad.mit.edu	37	chr17	10233795	10233795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgtcaccagcttctcatCtctcatctcctccaaaagtc	9	11	4	17	1	5	0	3	0	3	0	10	0	6	0	3	0	2	1	3	0	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:10233795C>T	ENST00000418404.3	-	20	2507	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	MYH13_ENST00000570743.1_Missense_Mutation_p.D782N|MYH13_ENST00000252172.4_Missense_Mutation_p.D782N|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	782	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTTCTCATCTCTCATCTCC	0.542													7	20					0	0	0	0	T	10233795	C	T	10233795	3	4	384	1	0	0	0	0	1	0	0	0	10102	913	32	2	3556	2	MYH13	17	10233795	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	601812	10233795	70961415	170	73951											
MYH4	4622	broad.mit.edu	37	chr17	10359162	10359162	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttcattggggatgatgcaCcgcacaaagtgggggtgagt	9	10	16	6	1	1	2	1	2	0	0	1	3	1	3	1	4	1	3	1	4	1	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:10359162C>G	ENST00000255381.2	-	18	2135	c.2025G>C	c.(2023-2025)cgG>cgC	p.R675R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGATGATGCACCGCACAAAGT	0.428													26	113					0	0	0	0	G	10359162	C	G	10359162	2	3	384	1	0	0	0	0	0	0	0	1	10107	494	18	4		4	MYH4	17	10359162	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	125367	10359162	70836048	171	73952											
MYOCD	93649	broad.mit.edu	37	chr17	12656440	12656440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccagcctcttggaaatgCtcattgtgtggagtcctcag	8	12	10	11	0	3	0	2	0	1	0	5	2	5	2	3	2	2	1	3	2	1	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:12656440C>G	ENST00000425538.1	+	10	2035	c.1835C>G	c.(1834-1836)gCt>gGt	p.A612G	MYOCD_ENST00000343344.4_Missense_Mutation_p.A612G|MYOCD_ENST00000395988.1_Missense_Mutation_p.A516G	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	612					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			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)		CTTGGAAATGCTCATTGTGTG	0.512													34	110					0	0	0	0	G	12656440	C	G	12656440	3	3	384	1	0	0	0	0	1	0	0	0	10157	797	28	4	1873	4	MYOCD	17	12656440	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	2297278	12656440	68538770	172	73953											
NEK8	284086	broad.mit.edu	37	chr17	27061083	27061083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaacagatgaccaaggaaGagcggcaggcagcccagaat	15	3	14	9	1	0	4	0	1	0	3	0	6	0	6	2	4	3	2	2	4	4	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:27061083G>A	ENST00000268766.6	+	2	164	c.130G>A	c.(130-132)Gag>Aag	p.E44K	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	44	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GACCAAGGAAGAGCGGCAGGC	0.527													11	57					0	0	0	0	A	27061083	G	A	27061083	3	1	384	1	0	0	0	0	1	0	0	0	10400	943	33	2	136	2	NEK8	17	27061083	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	14404643	27061083	54134127	173	73954											
GIT1	28964	broad.mit.edu	37	chr17	27903555	27903555	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcacctctcgctgcagcctCcggagctcgtcgctcaggct	4	9	10	18	4	3	0	2	0	1	0	7	1	4	1	3	2	3	5	3	2	0	0	rs145208703		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:27903555C>G	ENST00000225394.3	-	13	1613	c.1365G>C	c.(1363-1365)cgG>cgC	p.R455R	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.R464R|GIT1_ENST00000579937.1_Silent_p.R455R|GIT1_ENST00000581348.1_Silent_p.R464R	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	455					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCTGCAGCCTCCGGAGCTCGT	0.622													13	49					0	0	0	0	G	27903555	C	G	27903555	2	3	384	1	0	0	0	0	0	0	0	1	6447	842	30	2		2	GIT1	17	27903555	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	842472	27903555	53291655	174	73955											
SLC25A39	51629	broad.mit.edu	37	chr17	42399067	42399067	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggacccggctactcaCagggtggcggggaggccgct	6	5	18	12	3	1	0	1	0	0	0	1	2	1	2	2	7	2	3	2	7	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:42399067C>A	ENST00000225308.8	-	6	543		c.e6+1		SLC25A39_ENST00000537904.2_Splice_Site|SLC25A39_ENST00000590194.1_Splice_Site|SLC25A39_ENST00000586016.1_Splice_Site|SLC25A39_ENST00000377095.5_Splice_Site	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39						heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGCTACTCACAGGGTGGCGG	0.612													6	39					0.0215528	0.0218818	1	0	A	42399067	C	A	42399067	5	1	384	1	0	0	0	0	0	0	1	0	14591	492	17	4	714	4	SLC25A39	17	42399067	Splice_Site	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	14495512	42399067	38796143	175	73956											
KCNH6	81033	broad.mit.edu	37	chr17	61623093	61623093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcagaacaggaacagcctGaggggctctggccaccccta	10	5	11	15	0	2	2	1	1	1	1	2	3	2	3	5	4	3	1	5	4	3	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:61623093G>C	ENST00000583023.1	+	14	2826	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	KCNH6_ENST00000314672.5_Missense_Mutation_p.E903Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.E850Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.E850Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	939					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGAACAGCCTGAGGGGCTCTG	0.582													17	69					0	0	0	0	C	61623093	G	C	61623093	3	2	384	1	0	0	0	0	1	0	0	0	8089	1291	45	2	2869	2	KCNH6	17	61623093	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	19224026	61623093	19572117	176	73957											
EVPL	2125	broad.mit.edu	37	chr17	74003878	74003878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgctctggggggccgggGaggcgagcggggacttggag	4	6	24	7	3	1	0	0	0	1	0	1	4	1	3	1	10	2	1	1	10	0	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:74003878G>A	ENST00000301607.3	-	22	5661	c.5408C>T	c.(5407-5409)tCc>tTc	p.S1803F	EVPL_ENST00000586740.1_Missense_Mutation_p.S1825F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1803	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGGCCGGGGAGGCGAGCGG	0.602													23	64					0	0	0	0	A	74003878	G	A	74003878	3	1	384	1	0	0	0	0	1	0	0	0	5330	1174	41	2	697	2	EVPL	17	74003878	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	12380785	74003878	7191332	177	73958											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60052041	60052041	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggcaggtgatgaactTcaagggcgacatcatcgtgg	10	7	15	9	3	2	2	2	2	0	0	3	3	2	2	0	4	2	1	0	4	2	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr18:60052041T>A	ENST00000586569.1	+	10	1663	c.1625T>A	c.(1624-1626)tTc>tAc	p.F542Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F225Y	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	542					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GTGATGAACTTCAAGGGCGAC	0.642													3	19					0	0	0	0	A	60052041	T	A	60052041	3	1	384	1	0	0	0	0	1	0	0	0	16378	1783	62	5	1663	5	TNFRSF11A	18	60052041	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08		60052041	18025207	178	73959											
LRRC8E	80131	broad.mit.edu	37	chr19	7965184	7965184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggagctggtggcctgcGggctggagcgcatcccccat	5	7	16	13	2	0	0	0	0	0	0	1	2	1	2	3	5	4	4	3	5	0	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:7965184G>T	ENST00000539278.1	-	1	3243	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	LRRC8E_ENST00000306708.6_Missense_Mutation_p.G593W																							GGTGGCCTGCGGGCTGGAGCG	0.632													3	22					0.115264	0.116579	1	0	T	7965184	G	T	7965184	3	4	384	1	0	0	0	0	1	0	0	0	9089	1116	39	3	1783	3	LRRC8E	19	7965184	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		7965184	51163799	179	73960											
ADAMTS10	81794	broad.mit.edu	37	chr19	8657648	8657648	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctggccggcgctcaccCccttgtcgatggtgtgcgtc	2	9	14	16	4	1	0	1	0	0	0	3	1	1	0	4	4	1	1	4	4	0	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:8657648C>T	ENST00000270328.4	-	12	1852	c.1587_splice	c.e12+1	p.G529_splice	ADAMTS10_ENST00000597188.1_Splice_Site_p.G529_splice			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	529	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCGCTCACCCCCTTGTCGAT	0.682													5	20					0	0	0	0	T	8657648	C	T	8657648	5	4	384	1	0	0	0	0	0	0	1	0	256	637	22	4	1781	4	ADAMTS10	19	8657648	Splice_Site	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	692464	8657648	50471335	180	73961											
OR7D2	162998	broad.mit.edu	37	chr19	9296835	9296835	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgaccggtttgtggctgtCtgccaccctctgcactatat	6	14	9	12	1	2	1	0	1	2	0	2	1	2	1	3	2	2	3	3	2	3	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:9296835C>G	ENST00000344248.2	+	1	557	c.378C>G	c.(376-378)gtC>gtG	p.V126V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	126					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTGTGGCTGTCTGCCACCCTC	0.512													43	152					0	0	0	0	G	9296835	C	G	9296835	2	3	384	1	0	0	0	0	0	0	0	1	11290	900	32	2		2	OR7D2	19	9296835	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	639187	9296835	49832148	181	73962											
DNM2	1785	broad.mit.edu	37	chr19	10883279	10883279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatctccccagtgcccatCaaccttcgagtctactcgcc	7	9	7	18	2	3	0	1	0	2	0	6	1	3	0	5	1	3	1	5	1	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:10883279C>G	ENST00000314646.5	+	3	524	c.360C>G	c.(358-360)atC>atG	p.I120M	DNM2_ENST00000585892.1_Missense_Mutation_p.I120M|DNM2_ENST00000408974.4_Missense_Mutation_p.I120M|DNM2_ENST00000355667.6_Missense_Mutation_p.I120M|DNM2_ENST00000389253.4_Missense_Mutation_p.I120M|DNM2_ENST00000359692.6_Missense_Mutation_p.I120M|DNM2_ENST00000591819.1_3'UTR			P50570	DYN2_HUMAN	dynamin 2	120					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAGTGCCCATCAACCTTCGAG	0.552			"F, N, Splice, Mis, O"		ETP ALL								11	40					0	0	0	0	G	10883279	C	G	10883279	3	3	384	1	0	0	0	0	1	0	0	0	4708	816	29	2	370	2	DNM2	19	10883279	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	1586444	10883279	48245704	182	73963											
GDF15	9518	broad.mit.edu	37	chr19	18499466	18499466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctgccgtctgcacacggtCcgcgcgtcgctggaagacct	5	8	13	15	6	1	1	0	0	1	1	3	2	2	2	3	2	3	3	3	2	1	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:18499466C>T	ENST00000595973.1	+	3	1199	c.648C>T	c.(646-648)gtC>gtT	p.V216V	GDF15_ENST00000252809.3_Silent_p.V216V			Q99988	GDF15_HUMAN	growth differentiation factor 15	216					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TGCACACGGTCCGCGCGTCGC	0.731											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	16					0	0	0	0	T	18499466	C	T	18499466	2	4	384	1	0	0	0	0	0	0	0	1	6364	842	30	2		2	GDF15	19	18499466	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	7616187	18499466	40629517	183	73964											
CHST8	64377	broad.mit.edu	37	chr19	34263838	34263838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcactcgcaggaggcgcGgaccacagcgaggatcgccc	8	2	15	16	6	0	0	0	0	0	0	2	4	0	3	3	5	1	2	3	5	0	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:34263838G>A	ENST00000262622.3	+	4	1903	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	CHST8_ENST00000434302.1_Missense_Mutation_p.R382Q|CHST8_ENST00000438847.2_Missense_Mutation_p.R382Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	382					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CAGGAGGCGCGGACCACAGCG	0.612													5	30					0	0	0	0	A	34263838	G	A	34263838	3	1	384	1	0	0	0	0	1	0	0	0	3439	1116	39	1	1155	1	CHST8	19	34263838	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	15764372	34263838	24865145	184	73965											
RYR1	6261	broad.mit.edu	37	chr19	38997014	38997014	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttaccctgtcccgggagctGcaggtgagagccctgatcct	6	9	13	13	1	0	2	0	2	0	1	2	4	2	3	4	2	4	3	4	2	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:38997014G>T	ENST00000355481.4	+	55	8744	c.8613G>T	c.(8611-8613)ctG>ctT	p.L2871L	RYR1_ENST00000359596.3_Silent_p.L2871L|RYR1_ENST00000360985.3_Silent_p.L2871L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2871	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGGGAGCTGCAGGTGAGAG	0.592													7	30					0.00198382	0.00202182	1	0	T	38997014	G	T	38997014	2	4	384	1	0	0	0	0	0	0	0	1	13853	1306	46	4		4	RYR1	19	38997014	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	4733176	38997014	20131969	185	73966											
PAF1	54623	broad.mit.edu	37	chr19	39879407	39879407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggaccacctacctaatCatggcctgagacatcatctc	12	8	7	14	0	3	1	2	1	1	1	4	3	3	2	4	2	2	1	4	2	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:39879407C>G	ENST00000221265.3	-	9	1065	c.735G>C	c.(733-735)atG>atC	p.M245I	PAF1_ENST00000595564.1_Missense_Mutation_p.M235I|PAF1_ENST00000221266.7_Missense_Mutation_p.M212I	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	245					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			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)			CCTACCTAATCATGGCCTGAG	0.547													14	34					0	0	0	0	G	39879407	C	G	39879407	3	3	384	1	0	0	0	0	1	0	0	0	11454	826	29	2	884	2	PAF1	19	39879407	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	882393	39879407	19249576	186	73967											
PAF1	54623	broad.mit.edu	37	chr19	39879807	39879807	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgtatatttcttcctCggtaaactgctgcttcacag	7	17	7	10	1	3	0	1	0	2	0	5	0	4	0	1	1	3	4	1	1	4	7			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:39879807C>A	ENST00000221265.3	-	7	823	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PAF1_ENST00000595564.1_Nonsense_Mutation_p.E155*|PAF1_ENST00000221266.7_Nonsense_Mutation_p.E155*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	165					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			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)			ATTTCTTCCTCGGTAAACTGC	0.473													27	85					4.22769e-11	4.49827e-11	1	0	A	39879807	C	A	39879807	4	1	384	1	0	0	0	0	0	1	0	0	11454	893	31	3	1134	3	PAF1	19	39879807	Nonsense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	400	39879807	19249176	187	73968											
AKT2	208	broad.mit.edu	37	chr19	40741810	40741810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcacctctgcttggggtCcttcttaagcagcccagcaa	7	10	8	16	0	3	0	1	0	2	0	4	0	4	0	4	2	4	3	4	2	2	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:40741810C>T	ENST00000392038.2	-	11	1460	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	AKT2_ENST00000424901.1_Missense_Mutation_p.D388N|AKT2_ENST00000579047.1_Missense_Mutation_p.D326N|AKT2_ENST00000311278.6_Missense_Mutation_p.D345N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	388	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGCTTGGGGTCCTTCTTAAGC	0.682			A		"ovarian, pancreatic "								3	22					0	0	0	0	T	40741810	C	T	40741810	3	4	384	1	0	0	0	0	1	0	0	0	480	855	30	2	299	2	AKT2	19	40741810	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	862003	40741810	18387173	188	73969											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895566	45895566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcccctctatctccggctCaggctccagctcggtggggg	4	8	13	16	2	3	0	1	0	2	0	6	0	4	0	4	5	2	3	4	5	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:45895566C>G	ENST00000418234.2	-	8	1465	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E463Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	463	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATCTCCGGCTCAGGCTCCAGC	0.642													6	35					0	0	0	0	G	45895566	C	G	45895566	3	3	384	1	0	0	0	0	1	0	0	0	12434	835	29	2	1123	2	PPP1R13L	19	45895566	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	5153756	45895566	13233417	189	73970											
SULT2A1	6822	broad.mit.edu	37	chr19	48389471	48389471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcggatctgaaacccataGtagggaaagctatgccttca	12	11	9	9	1	2	1	1	1	1	0	3	3	2	3	2	2	3	2	2	2	5	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:48389471G>A	ENST00000222002.3	-	1	183	c.44C>T	c.(43-45)aCt>aTt	p.T15I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GAAACCCATAGTAGGGAAAGC	0.443													6	124					0	0	0	0	A	48389471	G	A	48389471	3	1	384	1	0	0	0	0	1	0	0	0	15471	1029	36	4	837	4	SULT2A1	19	48389471	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	2493905	48389471	10739512	190	73971											
FLT3LG	2323	broad.mit.edu	37	chr19	49979010	49979010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggacccaggactgctccttCcaacacagccccatctcctc	8	7	7	19	0	1	0	0	0	1	0	5	2	3	2	6	2	3	1	6	2	1	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:49979010C>G	ENST00000594009.1	+	2	175	c.96C>G	c.(94-96)ttC>ttG	p.F32L	CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_Missense_Mutation_p.F32L|FLT3LG_ENST00000344019.3_Missense_Mutation_p.F32L|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000600429.1_Missense_Mutation_p.F32L|FLT3LG_ENST00000596435.1_Missense_Mutation_p.F32L|FLT3LG_ENST00000595510.1_5'UTR	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	32					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACTGCTCCTTCCAACACAGCC	0.642													13	41					0	0	0	0	G	49979010	C	G	49979010	3	3	384	1	0	0	0	0	1	0	0	0	5988	854	30	2	102	2	FLT3LG	19	49979010	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	1589539	49979010	9149973	191	73972											
ZNF610	162963	broad.mit.edu	37	chr19	52869339	52869339	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccttacaaatgtactgaAtgtggcaaggtcttcagtcg	13	11	9	8	1	2	1	1	1	1	0	3	1	2	1	1	2	3	2	1	2	6	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:52869339A>G	ENST00000601151.1	+	5	1031	c.579A>G	c.(577-579)gaA>gaG	p.E193E	ZNF610_ENST00000403906.3_Silent_p.E236E|ZNF610_ENST00000327920.8_Silent_p.E236E|ZNF610_ENST00000321287.8_Silent_p.E236E	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AATGTACTGAATGTGGCAAGG	0.388													10	31					0	0	0	0	G	52869339	A	G	52869339	2	3	384	1	0	0	0	0	0	0	0	1	18131	98	4	5		5	ZNF610	19	52869339	Silent	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	2890329	52869339	6259644	192	73973											
NLRP8	126205	broad.mit.edu	37	chr19	56466905	56466905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcatgagtattcttcGgagaattgcaggtgaggaag	10	11	14	6	1	1	3	0	2	1	1	2	5	1	4	1	4	1	3	1	4	3	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:56466905G>A	ENST00000291971.3	+	3	1552	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R494Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	494	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGTATTCTTCGGAGAATTGCA	0.468													30	107					0	0	0	0	A	56466905	G	A	56466905	3	1	384	1	0	0	0	0	1	0	0	0	10553	1116	39	1	1491	1	NLRP8	19	56466905	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	3597566	56466905	2662078	193	73974											
ZNF550	162972	broad.mit.edu	37	chr19	58067717	58067717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagccacatccttgaaggtCaccaacatctggaaagtcaa	15	7	7	12	0	3	1	2	1	1	0	4	2	4	2	3	2	2	0	3	2	4	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:58067717C>T	ENST00000325134.5	-	2	192	c.36G>A	c.(34-36)gtG>gtA	p.V12V	ZNF550_ENST00000457177.1_Silent_p.V12V|ZNF550_ENST00000601415.1_Silent_p.V12V|ZNF550_ENST00000506609.2_Silent_p.V3V|ZNF549_ENST00000602149.1_3'UTR			Q7Z398	ZN550_HUMAN	zinc finger protein 550	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTGAAGGTCACCAACATCT	0.522													22	108					0	0	0	0	T	58067717	C	T	58067717	2	4	384	1	0	0	0	0	0	0	0	1	18077	813	29	2		2	ZNF550	19	58067717	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	1600812	58067717	1061266	194	73975											
ZNF343	79175	broad.mit.edu	37	chr20	2464844	2464844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcgggtttgtaataaagtTtgattccaggttatggtccg	8	15	11	7	2	0	1	0	1	0	0	3	1	2	1	3	3	0	4	3	3	4	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr20:2464844T>C	ENST00000278772.4	-	6	1250	c.763A>G	c.(763-765)Aac>Gac	p.N255D	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTAATAAAGTTTGATTCCAGG	0.438													7	90					0	0	0	0	C	2464844	T	C	2464844	3	2	384	1	0	0	0	0	1	0	0	0	17953	1841	64	5	1040	5	ZNF343	20	2464844	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08		2464844	60560676	195	73976											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													4	98					0	0	0	0	C	11058353	T	C	11058353	1	2	384	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-DQ-5625-01A-01D-1870-08		11058353	37071542	196	73977											
ITSN1	6453	broad.mit.edu	37	chr21	35190747	35190747	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaagtcttacgtgaaactCatttcagggcccataaggaa	13	9	8	11	1	3	1	2	1	1	0	3	2	3	2	2	2	2	0	2	2	5	3			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr21:35190747C>G	ENST00000381318.3	+	23	3192	c.2904C>G	c.(2902-2904)ctC>ctG	p.L968L	ITSN1_ENST00000399352.1_Silent_p.L963L|ITSN1_ENST00000437442.2_Silent_p.L963L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.L968L|ITSN1_ENST00000399349.1_Silent_p.L963L|ITSN1_ENST00000399353.1_Silent_p.L926L|ITSN1_ENST00000399355.2_Silent_p.L968L|ITSN1_ENST00000399367.3_Silent_p.L963L|ITSN1_ENST00000399326.3_Silent_p.L963L|ITSN1_ENST00000381285.4_Silent_p.L968L|ITSN1_ENST00000379960.5_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	968	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACGTGAAACTCATTTCAGGGC	0.393													57	79					0	0	0	0	G	35190747	C	G	35190747	2	3	384	1	0	0	0	0	0	0	0	1	7979	813	29	2		2	ITSN1	21	35190747	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	24132394	35190747	12939148	197	73978											
RGL4	266747	broad.mit.edu	37	chr22	24035973	24035973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagaaggtggtgctccacGaatgcttgggctgcatctgg	8	10	14	9	1	2	1	1	0	1	1	3	2	3	1	1	4	3	4	1	4	3	1	rs145276888		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:24035973G>A	ENST00000290691.5	+	4	1894	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	RGL4_ENST00000401461.1_Missense_Mutation_p.E106K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	242	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGTGCTCCACGAATGCTTGGG	0.582													10	47					0	0	0	0	A	24035973	G	A	24035973	3	1	384	1	0	0	0	0	1	0	0	0	13361	1059	37	1	738	1	RGL4	22	24035973	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		24035973	27268593	198	73979											
MYO18B	84700	broad.mit.edu	37	chr22	26343789	26343789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcacaaggacctcattGctcaggtagtgaatgagacc	14	7	11	9	0	2	3	2	2	0	2	2	5	2	4	2	2	2	3	2	2	4	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:26343789G>C	ENST00000335473.7	+	36	5993	c.5743G>C	c.(5743-5745)Gct>Cct	p.A1915P	MYO18B_ENST00000407587.2_Missense_Mutation_p.A1916P|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1915P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1915	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCTCATTGCTCAGGTAGT	0.537													7	19					0	0	0	0	C	26343789	G	C	26343789	3	2	384	1	0	0	0	0	1	0	0	0	10136	1319	46	4	5881	4	MYO18B	22	26343789	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	2307816	26343789	24960777	199	73980											
TRIOBP	11078	broad.mit.edu	37	chr22	38131322	38131322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcccagccctgcctgcaCctccacccagtggccaaaga	8	5	9	19	0	0	1	0	0	0	1	1	1	1	1	7	1	4	2	7	1	1	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:38131322C>G	ENST00000406386.3	+	9	5234	c.4979C>G	c.(4978-4980)aCc>aGc	p.T1660S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1660					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTGCCTGCACCTCCACCCAG	0.677											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	28					0	0	0	0	G	38131322	C	G	38131322	3	3	384	1	0	0	0	0	1	0	0	0	16648	507	18	4	5005	4	TRIOBP	22	38131322	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	11787533	38131322	13173244	200	73981											
CELSR1	9620	broad.mit.edu	37	chr22	46785346	46785346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcgccctcaccagctgCagggccctggcgccgtccac	5	4	12	20	4	1	0	1	0	0	0	2	0	2	0	5	2	3	3	5	2	0	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:46785346C>T	ENST00000262738.3	-	18	6395	c.6396G>A	c.(6394-6396)ctG>ctA	p.L2132L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2132					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACCAGCTGCAGGGCCCTGG	0.637													9	36					0	0	0	0	T	46785346	C	T	46785346	2	4	384	1	0	0	0	0	0	0	0	1	3250	697	25	4		4	CELSR1	22	46785346	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	8654024	46785346	4519220	201	73982											
MAPK11	5600	broad.mit.edu	37	chr22	50703900	50703900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcactgtccagcaccaGcatccttccaaggaggtcta	9	9	9	14	0	2	0	1	0	1	0	5	1	5	1	4	3	2	2	4	3	2	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:50703900G>A	ENST00000330651.6	-	11	965	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L		NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	289	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCAGCACCAGCATCCTTCCA	0.637													4	52					0	0	0	0	A	50703900	G	A	50703900	2	1	384	1	0	0	0	0	0	0	0	1	9342	962	34	4		4	MAPK11	22	50703900	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	3918554	50703900	600666	202	73983											
SBF1	6305	broad.mit.edu	37	chr22	50886980	50886980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctcactcacacggccgtCtggccggccctcgaggcgct	4	6	12	19	5	3	0	2	0	1	0	4	1	3	0	4	4	0	1	4	4	0	0			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:50886980C>G	ENST00000380817.2	-	37	5326	c.5143G>C	c.(5143-5145)Gac>Cac	p.D1715H	SBF1_ENST00000390679.3_Missense_Mutation_p.D1689H|SBF1_ENST00000348911.6_Missense_Mutation_p.D1690H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1689					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACACGGCCGTCTGGCCGGCCC	0.662													4	31					0	0	0	0	G	50886980	C	G	50886980	3	3	384	1	0	0	0	0	1	0	0	0	13944	913	32	2	558	2	SBF1	22	50886980	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	183080	50886980	417586	203	73984											
SHROOM2	357	broad.mit.edu	37	chrX	9862972	9862972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagggccctgtgttctcaGaggcggctgcggcacagcac	6	6	14	15	2	1	1	1	0	1	1	2	1	1	1	2	4	2	4	2	4	0	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:9862972G>C	ENST00000380913.3	+	4	1114	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	342					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGTGTTCTCAGAGGCGGCTGC	0.657													6	28					0	0	0	0	C	9862972	G	C	9862972	3	2	384	1	0	0	0	0	1	0	0	0	14382	943	33	2	1038	2	SHROOM2	23	9862972	Missense_Mutation	SNP	G	TCGA-DQ-5625-01A-01D-1870-08		9862972	145407588	204	73985											
MAP3K15	389840	broad.mit.edu	37	chrX	19398256	19398256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttgaacatggctgcctgCggctcaccaagctcatggaa	10	9	10	12	1	2	1	2	1	0	0	2	2	2	2	2	3	4	3	2	3	3	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:19398256C>T	ENST00000338883.4	-	19	2570	c.2571G>A	c.(2569-2571)ccG>ccA	p.P857P	MAP3K15_ENST00000469203.2_Silent_p.P689P|MAP3K15_ENST00000359173.3_Silent_p.P292P|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	857	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGGCTGCCTGCGGCTCACCAA	0.537													5	11					0	0	0	0	T	19398256	C	T	19398256	2	4	384	1	0	0	0	0	0	0	0	1	9318	755	27	1		1	MAP3K15	23	19398256	Silent	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	9535284	19398256	135872304	205	73986											
MAGEB1	4112	broad.mit.edu	37	chrX	30269432	30269432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcaattcctatggggtccGagagcctatgctgaaaccac	11	10	9	11	1	1	2	1	1	0	1	3	3	3	2	4	2	3	1	4	2	5	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397548.2_Silent_p.P274P|MAGEB1_ENST00000397550.1_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502													19	90					0	0	0	0	A	30269432	G	A	30269432	2	1	384	1	0	0	0	0	0	0	0	1	9241	1045	37	1		1	MAGEB1	23	30269432	Silent	SNP	G	TCGA-DQ-5625-01A-01D-1870-08	10871176	30269432	125001128	206	73987											
DMD	1756	broad.mit.edu	37	chrX	31950313	31950313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatttaaatctctttgaaAttctgacaagatattctttt	12	20	3	6	0	4	3	1	2	3	1	5	3	4	3	0	0	0	0	0	0	5	9			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:31950313A>G	ENST00000357033.4	-	46	6852	c.6646T>C	c.(6646-6648)Ttt>Ctt	p.F2216L	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.F2212L|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	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	2216					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			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)				TCTCTTTGAAATTCTGACAAG	0.303													10	36					0	0	0	0	G	31950313	A	G	31950313	3	3	384	1	0	0	0	0	1	0	0	0	4617	101	4	5	4695	5	DMD	23	31950313	Missense_Mutation	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	1680881	31950313	123320247	207	73988											
RPGR	6103	broad.mit.edu	37	chrX	38135929	38135929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaggaacactttcatcatCtcccacagttttcttcttgc	8	16	5	12	0	5	0	2	0	3	0	6	1	5	1	1	1	2	2	1	1	2	6			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:38135929C>T	ENST00000339363.3	-	15	2784	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N	RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Missense_Mutation_p.D606N|RPGR_ENST00000318842.7_Missense_Mutation_p.D668N|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	873	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTTTCATCATCTCCCACAGTT	0.358													20	107					0	0	0	0	T	38135929	C	T	38135929	3	4	384	1	0	0	0	0	1	0	0	0	13633	913	32	2	461	2	RPGR	23	38135929	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	6185616	38135929	117134631	208	73989											
USP9X	8239	broad.mit.edu	37	chrX	40988323	40988323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagcaaggtcaaggtgatgCcccaccacagcttgaagatg	12	7	12	10	0	1	4	1	3	0	1	1	4	1	4	3	2	3	2	3	2	3	1			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:40988323C>T	ENST00000324545.7	+	3	800	c.167C>T	c.(166-168)gCc>gTc	p.A56V	USP9X_ENST00000378308.2_Missense_Mutation_p.A56V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	56					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAGGTGATGCCCCACCACAG	0.443													3	43					0	0	0	0	T	40988323	C	T	40988323	3	4	384	1	0	0	0	0	1	0	0	0	17186	739	26	4	173	4	USP9X	23	40988323	Missense_Mutation	SNP	C	TCGA-DQ-5625-01A-01D-1870-08	2852394	40988323	114282237	209	73990											
PORCN	64840	broad.mit.edu	37	chrX	48370791	48370791	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggtgggtacggtgcccTcgccagtggagttcatgggc	5	8	18	10	3	1	0	1	0	0	0	2	2	1	1	2	5	2	2	2	5	1	2			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:48370791T>A	ENST00000367574.4	+	5	743	c.238T>A	c.(238-240)Tcg>Acg	p.S80T	PORCN_ENST00000537758.1_Missense_Mutation_p.S151T|PORCN_ENST00000361988.3_Missense_Mutation_p.S151T|PORCN_ENST00000355961.4_Missense_Mutation_p.S151T|PORCN_ENST00000355092.3_Missense_Mutation_p.S151T|PORCN_ENST00000326194.6_Missense_Mutation_p.S151T|PORCN_ENST00000359882.4_Missense_Mutation_p.S151T			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	151	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACGGTGCCCTCGCCAGTGGA	0.607													4	34					0	0	0	0	A	48370791	T	A	48370791	3	1	384	1	0	0	0	0	1	0	0	0	12330	1551	54	5	465	5	PORCN	23	48370791	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	7382468	48370791	106899769	210	73991											
DGKK	139189	broad.mit.edu	37	chrX	50213559	50213570	+	RNA	DEL	GGCGGAGCCGGT	GGCGGAGCCGGT	-																															agagcagcggcggagccggcGgcggagccggtggtggtggc																										TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:50213559_50213570delGGCGGAGCCGGT	ENST00000376025.2	-	0	167_178							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					cggagccggcggcggagccggtggtggtggcg	0.712													9	26	---	---	---	---					-	50213570	GGCGGAGCCGGT	-	50213559	6	5	384	0	1	1	0	1	0	0	0	0	4509	1116	39	0		0	DGKK	23	50213559	RNA	DEL	GGCGGAGCCGGT	TCGA-DQ-5625-01A-01D-1870-08	1842768	50213559	105057001	211	73992											
HUWE1	10075	broad.mit.edu	37	chrX	53563587	53563589	+	In_Frame_Del	DEL	CCA	CCA	-																															tataccactcccgcaggagcCcaccagcatcctgcccttct																								rs426298	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:53563587_53563589delCCA	ENST00000342160.3	-	78	12634_12636	c.12177_12179delTGG	c.(12175-12180)ggg>gg	p.GG4059del	HUWE1_ENST00000262854.6_In_Frame_Del_p.GG4059del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4059	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCGCAGGAGCCCACCAGCATCCT	0.473													14	58	---	---	---	---					-	53563589	CCA	-	53563587	7	5	384	1	0	1	0	1	0	0	0	0	7514	623	22	0	969	0	HUWE1	23	53563587	In_Frame_Del	DEL	CCA	TCGA-DQ-5625-01A-01D-1870-08	3350028	53563587	101706973	212	73993											
ATRX	546	broad.mit.edu	37	chrX	76944323	76944323	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacataccttacaaataagAacttgcaatgaagggtgtct	15	12	7	7	0	1	2	0	1	1	1	1	2	1	2	1	1	5	1	1	1	8	5			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:76944323A>T	ENST00000373344.5	-	7	796	c.582T>A	c.(580-582)gtT>gtA	p.V194V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.V156V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	194	ADD.		Missing (in ATRX).|V -> I (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACAAATAAGAACTTGCAATG	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						48	94					0	0	0	0	T	76944323	A	T	76944323	2	4	384	1	0	0	0	0	0	0	0	1	1212	233	9	5		5	ATRX	23	76944323	Silent	SNP	A	TCGA-DQ-5625-01A-01D-1870-08	23380736	76944323	78326237	213	73994											
BHLHB9	80823	broad.mit.edu	37	chrX	102005206	102005206	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcaatctggattaaagaTactaggacaactgactactg	16	9	8	8	0	1	2	0	1	1	1	1	4	1	4	0	2	4	1	0	2	7	4			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:102005206T>A	ENST00000372735.1	+	4	1868	c.1283T>A	c.(1282-1284)aTa>aAa	p.I428K	BHLHB9_ENST00000448867.1_Missense_Mutation_p.I428K|BHLHB9_ENST00000447531.1_Missense_Mutation_p.I428K|BHLHB9_ENST00000361229.4_Missense_Mutation_p.I428K|BHLHB9_ENST00000457056.1_Missense_Mutation_p.I428K			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	428						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGATTAAAGATACTAGGACAA	0.373													49	47					0	0	0	0	A	102005206	T	A	102005206	3	1	384	1	0	0	0	0	1	0	0	0	1425	1406	49	5	1285	5	BHLHB9	23	102005206	Missense_Mutation	SNP	T	TCGA-DQ-5625-01A-01D-1870-08	25060883	102005206	53265354	214	73995											
AGRN	375790	broad.mit.edu	37	chr1	957724	957724	+	Frame_Shift_Del	DEL	C	C	-																															actggggacaccaggatcttCtttgtgaaccctgcaccccc																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:957724delC	ENST00000379370.2	+	2	395	c.345delC	c.(343-345)ttfs	p.F116fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	116	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGGATCTTCTTTGTGAACC	0.607													107	52	---	---	---	---					-	957724	C	-	957724	7	5	385	1	0	1	0	1	0	0	0	0	397	912	32	0	351	0	AGRN	1	957724	Frame_Shift_Del	DEL	C	TCGA-DQ-5629-01A-01D-1870-08		957724	248292897	1	73996											
SKI	6497	broad.mit.edu	37	chr1	2160628	2160628	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgcagcagatcaacgcGgtgtgcgacgagctccacat	9	7	12	13	5	1	1	1	0	0	1	3	3	2	1	1	1	5	4	1	1	1	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:2160628G>C	ENST00000378536.4	+	1	495	c.423G>C	c.(421-423)gcG>gcC	p.A141A		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	141					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGATCAACGCGGTGTGCGACG	0.632													12	3					0	0	0	0	C	2160628	G	C	2160628	2	2	385	1	0	0	0	0	0	0	0	1	14445	1103	39	3		3	SKI	1	2160628	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1202904	2160628	247089993	2	73997											
PIK3CD	5293	broad.mit.edu	37	chr1	9775652	9775652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacatgctcagtggcccCgaggcctatgtgttcacctg	6	11	10	14	1	2	0	2	0	0	0	3	1	3	0	5	2	1	2	5	2	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:9775652C>T	ENST00000536656.1	+	4	403	c.195C>T	c.(193-195)ccC>ccT	p.P65P	PIK3CD_ENST00000361110.2_Silent_p.P65P|PIK3CD_ENST00000377346.4_Silent_p.P65P			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	65					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGTGGCCCCGAGGCCTATG	0.647													10	21					0	0	0	0	T	9775652	C	T	9775652	2	4	385	1	0	0	0	0	0	0	0	1	11987	639	23	1		1	PIK3CD	1	9775652	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	7615024	9775652	239474969	3	73998											
PIK3CD	5293	broad.mit.edu	37	chr1	9776604	9776604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgctggtggagcagcCggaagactacacgctgcagg	9	4	16	12	3	0	1	0	0	0	1	0	3	0	3	2	4	5	5	2	4	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:9776604C>T	ENST00000536656.1	+	6	915	c.707C>T	c.(706-708)cCg>cTg	p.P236L	PIK3CD_ENST00000361110.2_Missense_Mutation_p.P236L|PIK3CD_ENST00000377346.4_Missense_Mutation_p.P236L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	236					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGAGCAGCCGGAAGACTAC	0.642													3	4					0	0	0	0	T	9776604	C	T	9776604	3	4	385	1	0	0	0	0	1	0	0	0	11987	652	23	1	721	1	PIK3CD	1	9776604	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	952	9776604	239474017	4	73999											
PLOD1	5351	broad.mit.edu	37	chr1	12016977	12016977	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctgacccccagatgAggtcgtgctcaagtttgaaa	9	12	10	10	1	2	4	1	3	1	1	3	4	2	4	2	1	2	3	2	1	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:12016977A>T	ENST00000196061.4	+	7	674	c.647A>T	c.(646-648)gAg>gTg	p.E216V	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.E263V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	216					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCCCAGATGAGGTCGTGCTC	0.587													17	13					0	0	0	0	T	12016977	A	T	12016977	3	4	385	1	0	0	0	0	1	0	0	0	12173	304	11	5	673	5	PLOD1	1	12016977	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	2240373	12016977	237233644	5	74000											
C1orf94	84970	broad.mit.edu	37	chr1	34667770	34667770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcctacagccatgacCtcagcaaccctgaaccagcc	11	7	5	18	0	1	2	1	2	0	0	2	2	2	2	6	0	6	1	6	0	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:34667770C>T	ENST00000488417.1	+	4	1476	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	C1orf94_ENST00000373374.3_Silent_p.T262T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	262							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGCCATGACCTCAGCAACCC	0.507													38	11					0	0	0	0	T	34667770	C	T	34667770	2	4	385	1	0	0	0	0	0	0	0	1	2091	668	24	4		4	C1orf94	1	34667770	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	22650793	34667770	214582851	6	74001											
KTI12	112970	broad.mit.edu	37	chr1	52499425	52499425	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagcccgcaaaacaccacGagcggcatcctctcagggag	11	3	12	15	3	1	0	1	0	1	0	3	2	2	1	3	3	3	3	3	3	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:52499425G>A	ENST00000371614.1	-	1	63	c.9C>T	c.(7-9)ctC>ctT	p.L3L	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000472624.1_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	3							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AAAACACCACGAGCGGCATCC	0.662													8	3					0	0	0	0	A	52499425	G	A	52499425	2	1	385	1	0	0	0	0	0	0	0	1	8637	1045	37	1		1	KTI12	1	52499425	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	17831655	52499425	196751196	7	74002											
ELTD1	64123	broad.mit.edu	37	chr1	79403504	79403504	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttacctatatccgttgAatttgtatcaaactctgtgg	9	18	6	8	1	3	1	1	1	2	0	4	1	4	1	2	1	2	2	2	1	6	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:79403504A>T	ENST00000370742.3	-	6	811	c.748T>A	c.(748-750)Tca>Aca	p.S250T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	250					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		ATATCCGTTGAATTTGTATCA	0.378													61	51					0	0	0	0	T	79403504	A	T	79403504	3	4	385	1	0	0	0	0	1	0	0	0	5122	246	9	5	1364	5	ELTD1	1	79403504	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	26904079	79403504	169847117	8	74003											
COL11A1	1301	broad.mit.edu	37	chr1	103449722	103449722	+	Missense_Mutation	SNP	G	G	T																															cttgtcttcctggatatcctGgtaatcctggaactccaagt																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:103449722G>T	ENST00000358392.2	-	31	2881	c.2564C>A	c.(2563-2565)cCa>cAa	p.P855Q	COL11A1_ENST00000353414.4_Missense_Mutation_p.P804Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P727Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.P843Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	843	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATATCCTGGTAATCCTGG	0.264													7	9					1.12685e-05	1.21103e-05	1	0	T	103449722	G	T	103449722	3	4	385	1	0	0	0	0	1	0	0	0	3697	1348	47	4	3040	4	COL11A1	1	103449722	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	24046218	103449722	145800899	9	74004	1001	2									
COL11A1	1301	broad.mit.edu	37	chr1	103449723	103449723	+	Missense_Mutation	SNP	G	G	T																															ttgtcttcctggatatcctgGtaatcctggaactccaagtt																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:103449723G>T	ENST00000358392.2	-	31	2880	c.2563C>A	c.(2563-2565)Cca>Aca	p.P855T	COL11A1_ENST00000353414.4_Missense_Mutation_p.P804T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P727T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P843T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	843	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGATATCCTGGTAATCCTGGA	0.259													7	9					1.12685e-05	1.21103e-05	1	0	T	103449723	G	T	103449723	3	4	385	1	0	0	0	0	1	0	0	0	3697	1261	44	4	3041	4	COL11A1	1	103449723	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1	103449723	145800898	10	74005	1001	2									
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273384	145273384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaccttgcctgaatggcGgcacatgccatatgctcagc	8	9	10	14	2	1	1	1	1	0	0	2	2	1	1	3	2	4	2	3	2	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:145273384G>T	ENST00000369340.3	+	4	682	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80C|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80C|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCTGAATGGCGGCACATGCCA	0.532													48	524					5.57489e-27	7.79436e-27	1	0	T	145273384	G	T	145273384	3	4	385	1	0	0	0	0	1	0	0	0	10619	1116	39	3	244	3	NOTCH2NL	1	145273384	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	41823661	145273384	103977237	11	74006											
SNX27	81609	broad.mit.edu	37	chr1	151641106	151641106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgttacctacttctttCatcaggtaggtgaattgatc	8	17	8	8	0	3	2	2	2	1	0	4	2	3	2	1	2	3	3	1	2	4	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:151641106C>T	ENST00000368843.3	+	7	1264	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	SNX27_ENST00000458013.2_Missense_Mutation_p.H382Y|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.H289Y	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	382					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTACTTCTTTCATCAGGTAGG	0.388													19	45					0	0	0	0	T	151641106	C	T	151641106	3	4	385	1	0	0	0	0	1	0	0	0	14985	826	29	2	1170	2	SNX27	1	151641106	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	6367722	151641106	97609515	12	74007											
S100A7A	338324	broad.mit.edu	37	chr1	153390678	153390678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgatgatgaaggagaacttCcccaatttcctcagtgcctg	11	10	9	11	1	1	3	1	2	0	1	3	5	3	3	4	1	2	0	4	1	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:153390678C>T	ENST00000368729.4	+	2	177	c.120C>T	c.(118-120)ttC>ttT	p.F40F	S100A7A_ENST00000368728.2_Silent_p.F40F|S100A7A_ENST00000329256.2_Silent_p.F40F	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	40	EF-hand 1.					cytoplasm	calcium ion binding	p.F40F(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGAACTTCCCCAATTTCC	0.488													63	76					0	0	0	0	T	153390678	C	T	153390678	2	4	385	1	0	0	0	0	0	0	0	1	13869	854	30	2		2	S100A7A	1	153390678	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1749572	153390678	95859943	13	74008											
CD1E	913	broad.mit.edu	37	chr1	158326571	158326571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccctgtctttctcatggGagccaacactcaggacacca	10	8	8	15	0	3	0	2	0	2	0	4	2	3	2	3	2	3	0	3	2	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158326571G>A	ENST00000444681.2	+	5	1048	c.755G>A	c.(754-756)gGa>gAa	p.G252E	CD1E_ENST00000368155.3_Missense_Mutation_p.G194E|CD1E_ENST00000368157.1_Missense_Mutation_p.G95E|CD1E_ENST00000368160.3_Missense_Mutation_p.G339E|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368165.3_Missense_Mutation_p.G261E|CD1E_ENST00000368167.3_Missense_Mutation_p.G351E|CD1E_ENST00000368166.3_Missense_Mutation_p.G150E|CD1E_ENST00000368156.1_Missense_Mutation_p.G249E|CD1E_ENST00000368163.3_Missense_Mutation_p.G284E|CD1E_ENST00000452291.2_Missense_Mutation_p.G162E|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368154.1_Missense_Mutation_p.G107E	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	351	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTCATGGGAGCCAACACT	0.428													45	58					0	0	0	0	A	158326571	G	A	158326571	3	1	385	1	0	0	0	0	1	0	0	0	3007	1174	41	2	1074	2	CD1E	1	158326571	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4935893	158326571	90924050	14	74009											
SPTA1	6708	broad.mit.edu	37	chr1	158641244	158641244	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgttttccaggaaggcCtgtagaagacagaaagacac	13	8	10	10	1	0	4	0	0	0	4	3	5	2	5	3	2	0	2	3	2	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158641244C>A	ENST00000368148.3	-	12	1669		c.e12-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGAAGGCCTGTAGAAGAC	0.498													15	36					3.41278e-10	3.97415e-10	1	0	A	158641244	C	A	158641244	5	1	385	1	0	0	0	0	0	0	1	0	15206	695	24	4	5935	4	SPTA1	1	158641244	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	314673	158641244	90609377	15	74010											
OR6K2	81448	broad.mit.edu	37	chr1	158669573	158669573	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttattcctcaggctataGataatggggttgaagaaggg	11	13	12	5	0	2	3	1	1	1	2	3	3	3	3	1	4	0	2	1	4	6	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158669573G>T	ENST00000359610.2	-	1	913	c.870C>A	c.(868-870)atC>atA	p.I290I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					TCAGGCTATAGATAATGGGGT	0.403													19	27					6.94344e-10	8.04357e-10	1	0	T	158669573	G	T	158669573	2	4	385	1	0	0	0	0	0	0	0	1	11273	932	33	2		2	OR6K2	1	158669573	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	28329	158669573	90581048	16	74011											
ARHGAP30	257106	broad.mit.edu	37	chr1	161039369	161039369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtcgcacccaaaaacccGctcctttgcgctgcccttct	8	9	6	18	3	1	0	0	0	1	0	3	0	2	0	4	0	3	3	4	0	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:161039369G>A	ENST00000368013.3	-	1	366	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R16W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	16					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCAAAAACCCGCTCCTTTGCG	0.642													32	61					0	0	0	0	A	161039369	G	A	161039369	3	1	385	1	0	0	0	0	1	0	0	0	881	1086	38	1	3307	1	ARHGAP30	1	161039369	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2369796	161039369	88211252	17	74012											
F5	2153	broad.mit.edu	37	chr1	169505920	169505920	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcaatatctgtttcccTgaaataataatactatttgt	12	18	4	7	0	3	1	1	1	2	0	4	1	4	1	1	0	1	1	1	0	7	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:169505920T>C	ENST00000367796.3	-	14	5013		c.e14-2		F5_ENST00000367797.3_Splice_Site			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGTTTCCCTGAAATAATAA	0.323													19	37					0	0	0	0	C	169505920	T	C	169505920	5	2	385	1	0	0	0	0	0	0	1	0	5386	1594	55	5	1927	5	F5	1	169505920	Splice_Site	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	8466551	169505920	79744701	18	74013											
FASLG	356	broad.mit.edu	37	chr1	172628386	172628386	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccccagatctactgggtGgacagcagtgccagctctcc	8	9	10	14	0	2	1	0	0	2	1	4	2	3	2	4	2	4	2	4	2	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:172628386G>C	ENST00000367721.2	+	1	229	c.45G>C	c.(43-45)gtG>gtC	p.V15V	FASLG_ENST00000340030.3_Silent_p.V15V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	15	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCTACTGGGTGGACAGCAGTG	0.592													5	61					0	0	0	0	C	172628386	G	C	172628386	2	2	385	1	0	0	0	0	0	0	0	1	5727	1335	47	4		4	FASLG	1	172628386	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3122466	172628386	76622235	19	74014											
TNFSF4	7292	broad.mit.edu	37	chr1	173157708	173157708	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgaggataccgatgtgataCctgagggaggaagaaagaca	15	6	14	6	2	0	4	0	2	0	2	1	9	0	7	2	3	2	0	2	3	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:173157708C>G	ENST00000281834.3	-	2	290	c.153_splice	c.e2-1	p.V52_splice	TNFSF4_ENST00000367718.1_Splice_Site_p.V2_splice|TNFSF4_ENST00000488053.1_5'UTR	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	52					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CGATGTGATACCTGAGGGAGG	0.328													17	99					0	0	0	0	G	173157708	C	G	173157708	5	3	385	1	0	0	0	0	0	0	1	0	16404	521	18	4	405	4	TNFSF4	1	173157708	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	529322	173157708	76092913	20	74015											
TNR	7143	broad.mit.edu	37	chr1	175306678	175306678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacaatccagccgccccCgtcggtggtcatatcacagt	9	9	8	15	3	2	0	2	0	0	0	4	0	3	0	4	2	2	0	4	2	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:175306678C>A	ENST00000367674.1	-	19	4228	c.3520G>T	c.(3520-3522)Ggg>Tgg	p.G1174W	TNR_ENST00000263525.2_Missense_Mutation_p.G1174W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1174	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGCCGCCCCCGTCGGTGGTC	0.507													35	52					2.87052e-16	3.60634e-16	1	0	A	175306678	C	A	175306678	3	1	385	1	0	0	0	0	1	0	0	0	16432	652	23	3	576	3	TNR	1	175306678	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2148970	175306678	73943943	21	74016											
RFWD2	64326	broad.mit.edu	37	chr1	176012927	176012927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactgctagctaacaggttCttatggtaactactccaact	11	13	6	11	0	2	0	1	0	1	0	3	0	3	0	1	2	6	4	1	2	6	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:176012927C>G	ENST00000367669.3	-	13	1963	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N	RFWD2_ENST00000308769.8_Missense_Mutation_p.K459N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	483					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTAACAGGTTCTTATGGTAAC	0.323													55	276					0	0	0	0	G	176012927	C	G	176012927	3	3	385	1	0	0	0	0	1	0	0	0	13342	912	32	2	778	2	RFWD2	1	176012927	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	706249	176012927	73237694	22	74017											
HMCN1	83872	broad.mit.edu	37	chr1	185939517	185939517	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcattattgaccctctcttgGgacttttgaagattcaagaa	11	15	7	8	0	3	4	2	2	1	2	4	5	3	5	1	1	0	0	1	1	4	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:185939517G>T	ENST00000271588.4	+	15	2492	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.G755*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	755	Ig-like C2-type 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCTCTCTTGGGACTTTTGAA	0.408													84	191					7.68447e-34	1.09498e-33	1	0	T	185939517	G	T	185939517	4	4	385	1	0	0	0	0	0	1	0	0	7270	1233	43	4	2321	4	HMCN1	1	185939517	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	9926590	185939517	63311104	23	74018											
PTPN7	5778	broad.mit.edu	37	chr1	202121728	202121728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccgggctctcctccacctCtgccactaggcgcagcaggg	5	7	11	18	2	2	0	0	0	2	0	5	0	4	0	5	3	2	3	5	3	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:202121728C>T	ENST00000309017.3	-	8	1905	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	PTPN7_ENST00000367279.4_Missense_Mutation_p.E312K|PTPN7_ENST00000308986.5_Missense_Mutation_p.E273K|PTPN7_ENST00000543735.1_Missense_Mutation_p.E102K|PTPN7_ENST00000544762.1_Missense_Mutation_p.E49K|PTPN7_ENST00000492977.1_5'UTR	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	273						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCTCCACCTCTGCCACTAGG	0.642													16	33					0	0	0	0	T	202121728	C	T	202121728	3	4	385	1	0	0	0	0	1	0	0	0	12875	922	32	2	277	2	PTPN7	1	202121728	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	16182211	202121728	47128893	24	74019											
PLEKHA6	22874	broad.mit.edu	37	chr1	204236663	204236663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcttgttccactgcttaaCcccggagctggcctgcggga	5	9	13	14	3	0	0	0	0	0	0	1	2	1	2	4	3	4	4	4	3	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:204236663C>G	ENST00000272203.3	-	5	536	c.220G>C	c.(220-222)Gtt>Ctt	p.V74L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.V74L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	74	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CACTGCTTAACCCCGGAGCTG	0.597													18	51					0	0	0	0	G	204236663	C	G	204236663	3	3	385	1	0	0	0	0	1	0	0	0	12132	507	18	4	2998	4	PLEKHA6	1	204236663	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2114935	204236663	45013958	25	74020											
FAIM3	9214	broad.mit.edu	37	chr1	207095236	207095236	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtccatccaagagcccCtagagagggggatggagaca	13	4	14	10	0	0	3	0	0	0	3	2	6	2	4	4	4	1	0	4	4	3	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:207095236C>A	ENST00000367091.3	-	0	107				FAIM3_ENST00000442471.2_De_novo_Start_OutOfFrame|FAIM3_ENST00000528654.1_5'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3						anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CCAAGAGCCCCTAGAGAGGGG	0.517													19	34					1.00905e-13	1.24319e-13	1	0	A	207095236	C	A	207095236	1	1	385	1	0	0	0	0	0	0	0	0	5418	695	24	4		4	FAIM3	1	207095236	Translation_Start_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2858573	207095236	42155385	26	74021											
CD34	947	broad.mit.edu	37	chr1	208062192	208062192	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatctaggatccccagCttgaaaagaagacaaagaag	18	6	10	7	0	1	5	0	2	1	3	2	6	2	6	2	1	1	1	2	1	7	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:208062192C>G	ENST00000356522.4	-	7	1129		c.e7-1		CD34_ENST00000537704.1_Splice_Site|CD34_ENST00000310833.7_Splice_Site|CD34_ENST00000367036.3_Splice_Site|CD34_ENST00000485761.1_Splice_Site	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule						cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGATCCCCAGCTTGAAAAGAA	0.527													64	128					0	0	0	0	G	208062192	C	G	208062192	5	3	385	1	0	0	0	0	0	0	1	0	3035	811	28	4	377	4	CD34	1	208062192	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	966956	208062192	41188429	27	74022											
USH2A	7399	broad.mit.edu	37	chr1	215953214	215953214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgctgtctcctgtcagtgGtgtcagtgtggatgagacct	6	14	13	8	0	3	1	2	1	1	1	4	3	3	2	2	2	1	1	2	2	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:215953214G>A	ENST00000366943.2	-	55	11296	c.10910C>T	c.(10909-10911)aCc>aTc	p.T3637I	USH2A_ENST00000307340.3_Missense_Mutation_p.T3637I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3637	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGTCAGTGGTGTCAGTGTG	0.498										HNSCC(13;0.011)			52	55					0	0	0	0	A	215953214	G	A	215953214	3	1	385	1	0	0	0	0	1	0	0	0	17132	1261	44	4	4770	4	USH2A	1	215953214	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7891022	215953214	33297407	28	74023											
USH2A	7399	broad.mit.edu	37	chr1	216040365	216040365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttggtttagcccacctCacgtcgatggctgtgtggtt	5	15	11	10	2	1	0	1	0	0	0	2	1	1	0	2	3	2	3	2	3	2	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:216040365C>A	ENST00000366943.2	-	44	9215	c.8829G>T	c.(8827-8829)gtG>gtT	p.V2943V	USH2A_ENST00000307340.3_Silent_p.V2943V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2943	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCCCACCTCACGTCGATGG	0.448										HNSCC(13;0.011)			35	57					1.04594e-18	1.37203e-18	1	0	A	216040365	C	A	216040365	2	1	385	1	0	0	0	0	0	0	0	1	17132	813	29	2		2	USH2A	1	216040365	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	87151	216040365	33210256	29	74024											
EPRS	2058	broad.mit.edu	37	chr1	220156625	220156625	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttttcaacaccaagtttcTtgatctcagcatcaaaaaag	15	12	5	9	0	4	1	3	1	2	0	5	1	4	1	1	0	2	3	1	0	5	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:220156625T>A	ENST00000366923.3	-	22	3475	c.3206A>T	c.(3205-3207)aAg>aTg	p.K1069M		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1069	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ACCAAGTTTCTTGATCTCAGC	0.423													53	68					0	0	0	0	A	220156625	T	A	220156625	3	1	385	1	0	0	0	0	1	0	0	0	5229	1609	56	5	1376	5	EPRS	1	220156625	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	4116260	220156625	29093996	30	74025											
GALNT2	2590	broad.mit.edu	37	chr1	230338962	230338962	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgggcaggacccttacgcCcgcaacaagttcaaccaggt	10	6	10	15	3	1	0	1	0	0	0	2	1	2	1	4	3	3	3	4	3	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:230338962C>G	ENST00000366672.4	+	3	372	c.300C>G	c.(298-300)gcC>gcG	p.A100A	GALNT2_ENST00000543760.1_Silent_p.A62A|GALNT2_ENST00000541865.1_Silent_p.A10A	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	100					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACCCTTACGCCCGCAACAAGT	0.552													38	114					0	0	0	0	G	230338962	C	G	230338962	2	3	385	1	0	0	0	0	0	0	0	1	6262	610	22	4		4	GALNT2	1	230338962	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	10182337	230338962	18911659	31	74026											
RYR2	6262	broad.mit.edu	37	chr1	237580388	237580388	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctgtgtctgttcatgcAcgttccctttggagactaga	6	13	12	10	2	2	2	1	0	1	2	3	3	3	2	1	2	1	4	1	2	1	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:237580388A>T	ENST00000366574.2	+	11	1130	c.813A>T	c.(811-813)gcA>gcT	p.A271A	RYR2_ENST00000542537.1_Silent_p.A255A|RYR2_ENST00000360064.6_Silent_p.A269A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	271	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGTTCATGCACGTTCCCTTT	0.423													22	32					0	0	0	0	T	237580388	A	T	237580388	2	4	385	1	0	0	0	0	0	0	0	1	13854	146	6	5		5	RYR2	1	237580388	Silent	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	7241426	237580388	11670233	32	74027											
FMN2	56776	broad.mit.edu	37	chr1	240256593	240256593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgacgcccccgcggccgCttccctgcccggcagccccg	3	4	11	23	6	0	1	0	1	0	0	1	1	1	1	8	2	2	2	8	2	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240256593C>T	ENST00000319653.9	+	1	1414	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	395					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCGCGGCCGCTTCCCTGCCC	0.726													20	17					0	0	0	0	T	240256593	C	T	240256593	3	4	385	1	0	0	0	0	1	0	0	0	5995	797	28	4	1186	4	FMN2	1	240256593	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2676205	240256593	8994028	33	74028											
RGS7	6000	broad.mit.edu	37	chr1	240966253	240966253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcactggatcttataaaaCgtgggtatgaatcacttttc	12	13	9	7	1	2	1	1	1	1	0	3	2	2	2	0	3	1	2	0	3	5	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240966253C>T	ENST00000366565.1	-	16	1691	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	RGS7_ENST00000366564.1_Missense_Mutation_p.R437H|RGS7_ENST00000366563.1_Missense_Mutation_p.R437H|RGS7_ENST00000446183.2_Missense_Mutation_p.R353H|RGS7_ENST00000348120.2_Missense_Mutation_p.R384H|RGS7_ENST00000366562.4_Missense_Mutation_p.R437H|RGS7_ENST00000331110.7_Missense_Mutation_p.R411H|RGS7_ENST00000407727.1_Missense_Mutation_p.R437H|RGS7_ENST00000401882.1_Missense_Mutation_p.R384H	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	437	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTATAAAACGTGGGTATGA	0.343													54	80					0	0	0	0	T	240966253	C	T	240966253	3	4	385	1	0	0	0	0	1	0	0	0	13393	536	19	1	165	1	RGS7	1	240966253	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	709660	240966253	8284368	34	74029											
RGS7	6000	broad.mit.edu	37	chr1	240975331	240975331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcgttttaccctctgctgGctcggttctttgctatagaa	6	16	8	11	2	2	1	0	0	2	1	4	1	2	1	1	2	3	5	1	2	4	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240975331G>T	ENST00000366565.1	-	14	1350	c.969C>A	c.(967-969)agC>agA	p.S323R	RGS7_ENST00000366564.1_Missense_Mutation_p.S323R|RGS7_ENST00000366563.1_Missense_Mutation_p.S323R|RGS7_ENST00000446183.2_Missense_Mutation_p.S239R|RGS7_ENST00000348120.2_Missense_Mutation_p.S270R|RGS7_ENST00000366562.4_Missense_Mutation_p.S323R|RGS7_ENST00000331110.7_Missense_Mutation_p.S297R|RGS7_ENST00000407727.1_Missense_Mutation_p.S323R|RGS7_ENST00000401882.1_Missense_Mutation_p.S270R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	323					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCCTCTGCTGGCTCGGTTCTT	0.393													38	58					1.49673e-21	2.01067e-21	1	0	T	240975331	G	T	240975331	3	4	385	1	0	0	0	0	1	0	0	0	13393	1194	42	4	514	4	RGS7	1	240975331	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	9078	240975331	8275290	35	74030											
OR6F1	343169	broad.mit.edu	37	chr1	247875907	247875907	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgcaactgatgggaggTgctcaccaacatcaagatag	13	8	12	8	0	2	2	2	1	0	1	2	3	2	3	1	3	4	3	1	3	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:247875907T>G	ENST00000302084.2	-	1	198	c.151A>C	c.(151-153)Acc>Ccc	p.T51P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGATGGGAGGTGCTCACCAAC	0.473													41	80					0	0	0	0	G	247875907	T	G	247875907	3	3	385	1	0	0	0	0	1	0	0	0	11272	1696	59	5	779	5	OR6F1	1	247875907	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	6900576	247875907	1374714	36	74031											
FOSL2	2355	broad.mit.edu	37	chr2	28634831	28634831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggagaagtcaggccTgcagaaggagattgctgagc	12	5	18	6	0	1	4	1	1	0	3	1	8	1	6	1	5	3	2	1	5	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:28634831T>C	ENST00000264716.4	+	4	1360	c.497T>C	c.(496-498)cTg>cCg	p.L166P	FOSL2_ENST00000379619.1_Missense_Mutation_p.L158P|FOSL2_ENST00000545753.1_Missense_Mutation_p.L127P	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	166	Leucine-zipper.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AAGTCAGGCCTGCAGAAGGAG	0.582													3	58					0	0	0	0	C	28634831	T	C	28634831	3	2	385	1	0	0	0	0	1	0	0	0	6033	1580	55	5	511	5	FOSL2	2	28634831	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08		28634831	214564542	37	74032											
VRK2	7444	broad.mit.edu	37	chr2	58373570	58373570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatggaaagtgcagaaagaGgagaaactgattggattgat	17	8	13	3	0	0	5	0	2	0	3	0	8	0	7	0	3	2	1	0	3	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:58373570G>T	ENST00000435505.2	+	15	1888	c.1143G>T	c.(1141-1143)gaG>gaT	p.E381D	VRK2_ENST00000412104.2_Missense_Mutation_p.E381D|VRK2_ENST00000340157.4_Missense_Mutation_p.E381D|VRK2_ENST00000417641.2_Missense_Mutation_p.E381D|VRK2_ENST00000440705.2_Missense_Mutation_p.E358D			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	381						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TGCAGAAAGAGGAGAAACTGA	0.403													11	40					2.80697e-09	3.19365e-09	1	0	T	58373570	G	T	58373570	3	4	385	1	0	0	0	0	1	0	0	0	17316	991	35	4	1185	4	VRK2	2	58373570	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	29738739	58373570	184825803	38	74033											
ALMS1	7840	broad.mit.edu	37	chr2	73718480	73718480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaagtcgtacagccttctCttccagacagtaacactatt	11	12	5	13	1	1	1	0	0	1	1	5	1	3	1	3	0	3	2	3	0	4	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:73718480C>T	ENST00000264448.6	+	10	9502	c.9391C>T	c.(9391-9393)Ctt>Ttt	p.L3131F	ALMS1_ENST00000409009.1_Missense_Mutation_p.L3089F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3131					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				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						ACAGCCTTCTCTTCCAGACAG	0.393													42	67					0	0	0	0	T	73718480	C	T	73718480	3	4	385	1	0	0	0	0	1	0	0	0	535	913	32	2	9429	2	ALMS1	2	73718480	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	15344910	73718480	169480893	39	74034											
MOGS	7841	broad.mit.edu	37	chr2	74691753	74691753	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggagaggccgtcgtggAactcccagccatagggaccc	10	4	14	13	3	0	1	0	0	0	1	2	5	1	3	4	4	2	0	4	4	3	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:74691753A>C	ENST00000233616.4	-	2	611	c.449T>G	c.(448-450)tTc>tGc	p.F150C	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.F150C|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.F44C	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	150					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCGTCGTGGAACTCCCAGCC	0.657													26	55					0	0	0	0	C	74691753	A	C	74691753	3	2	385	1	0	0	0	0	1	0	0	0	9767	246	9	5	2076	5	MOGS	2	74691753	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	973273	74691753	168507620	40	74035											
SNRNP200	23020	broad.mit.edu	37	chr2	96963242	96963242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggtaaaaaccaggtcCtccaagtccagaacctgccg	11	7	9	14	1	0	1	0	0	0	1	3	1	3	1	7	2	3	1	7	2	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:96963242C>A	ENST00000323853.5	-	11	1313	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E412D	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	412						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAACCAGGTCCTCCAAGTCCA	0.512													11	18					5.16669e-11	6.11231e-11	1	0	A	96963242	C	A	96963242	3	1	385	1	0	0	0	0	1	0	0	0	14940	680	24	4	5314	4	SNRNP200	2	96963242	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	22271489	96963242	146236131	41	74036											
ANKRD36	375248	broad.mit.edu	37	chr2	97869830	97869830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgagaaaccaccaggcttGaaggtaatgaaactgtcgtt	13	10	10	8	1	1	3	0	3	1	1	2	4	1	3	2	2	2	3	2	2	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:97869830G>C	ENST00000420699.2	+	49	3229	c.2985G>C	c.(2983-2985)ttG>ttC	p.L995F	ANKRD36_ENST00000461153.2_Missense_Mutation_p.L995F	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	995										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CACCAGGCTTGAAGGTAATGA	0.308													4	11					0	0	0	0	C	97869830	G	C	97869830	3	2	385	1	0	0	0	0	1	0	0	0	664	1281	45	2	3179	2	ANKRD36	2	97869830	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	906588	97869830	145329543	42	74037											
ANAPC1	64682	broad.mit.edu	37	chr2	112541901	112541901	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccacacccagcttaccTgctttaaaagatggagttct	11	10	7	13	1	1	1	0	0	1	1	1	3	1	2	4	1	3	3	4	1	3	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:112541901T>A	ENST00000341068.3	-	41	5766	c.4995_splice	c.e41+1	p.Q1665_splice		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1665					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCAGCTTACCTGCTTTAAAAG	0.438													37	139					0	0	0	0	A	112541901	T	A	112541901	5	1	385	1	0	0	0	0	0	0	1	0	598	1594	55	5	872	5	ANAPC1	2	112541901	Splice_Site	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	14672071	112541901	130657472	43	74038											
SLC35F5	80255	broad.mit.edu	37	chr2	114500440	114500440	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatattactgaacctcacAcgagactttttgggggctta	11	13	9	8	1	1	3	1	2	0	1	1	4	1	3	1	2	2	1	1	2	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:114500440A>G	ENST00000245680.2	-	7	992	c.579T>C	c.(577-579)cgT>cgC	p.R193R	SLC35F5_ENST00000409342.1_Silent_p.R187R	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	193					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TGAACCTCACACGAGACTTTT	0.353													19	52					0	0	0	0	G	114500440	A	G	114500440	2	3	385	1	0	0	0	0	0	0	0	1	14680	146	6	5		5	SLC35F5	2	114500440	Silent	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	1958539	114500440	128698933	44	74039											
TFCP2L1	29842	broad.mit.edu	37	chr2	121995390	121995390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacttacgtcactgcccacGggcagggcctccaccgggtg	7	6	12	16	3	1	0	1	0	0	0	2	0	2	0	4	3	2	1	4	3	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:121995390G>A	ENST00000263707.5	-	9	994	c.897C>T	c.(895-897)ccC>ccT	p.P299P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	299					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACTGCCCACGGGCAGGGCCT	0.652													13	22					0	0	0	0	A	121995390	G	A	121995390	2	1	385	1	0	0	0	0	0	0	0	1	15890	1103	39	1		1	TFCP2L1	2	121995390	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7494950	121995390	121203983	45	74040											
NCKAP5	344148	broad.mit.edu	37	chr2	133721320	133721320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttcaatctctctaatagCaatttggtcttttcttttcc	7	20	4	10	0	5	0	1	0	4	0	7	0	6	0	1	1	1	2	1	1	4	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:133721320C>T	ENST00000409261.1	-	8	925	c.552G>A	c.(550-552)ttG>ttA	p.L184L	NCKAP5_ENST00000409213.1_Silent_p.L184L|NCKAP5_ENST00000405974.3_Silent_p.L184L|NCKAP5_ENST00000317721.6_Silent_p.L184L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	184							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTCTAATAGCAATTTGGTCT	0.368													48	102					0	0	0	0	T	133721320	C	T	133721320	2	4	385	1	0	0	0	0	0	0	0	1	10293	709	25	4		4	NCKAP5	2	133721320	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	11725930	133721320	109478053	46	74041											
TANC1	85461	broad.mit.edu	37	chr2	160035608	160035608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccgcatgttctgccaccCgtccttcagggagtggcttg	6	10	11	14	2	2	0	1	0	1	0	3	1	3	1	4	2	2	3	4	2	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:160035608C>T	ENST00000263635.6	+	14	2681	c.2444C>T	c.(2443-2445)cCg>cTg	p.P815L	TANC1_ENST00000454300.1_Missense_Mutation_p.P709L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	815						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCTGCCACCCGTCCTTCAGG	0.577													45	73					0	0	0	0	T	160035608	C	T	160035608	3	4	385	1	0	0	0	0	1	0	0	0	15635	652	23	1	2490	1	TANC1	2	160035608	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	26314288	160035608	83163765	47	74042											
KCNH7	90134	broad.mit.edu	37	chr2	163374347	163374347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacataagctttcccttgatCtggaatgggacagctgggaa	11	11	11	8	0	1	1	0	1	1	0	2	4	2	4	1	3	3	2	1	3	4	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:163374347C>A	ENST00000332142.5	-	4	884	c.785G>T	c.(784-786)aGa>aTa	p.R262I	KCNH7_ENST00000328032.4_Missense_Mutation_p.R262I|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	262					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCCCTTGATCTGGAATGGGA	0.493													42	56					4.32679e-17	5.54526e-17	1	0	A	163374347	C	A	163374347	3	1	385	1	0	0	0	0	1	0	0	0	8090	913	32	2	2923	2	KCNH7	2	163374347	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3338739	163374347	79825026	48	74043											
KCNH7	90134	broad.mit.edu	37	chr2	163393462	163393462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttttgattggtaatattgGgtttaccctctctggggtgg	6	17	13	5	0	1	1	0	1	1	0	2	1	1	1	1	5	1	3	1	5	3	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:163393462G>T	ENST00000332142.5	-	3	535	c.436C>A	c.(436-438)Cca>Aca	p.P146T	KCNH7_ENST00000328032.4_Missense_Mutation_p.P146T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	146					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGTAATATTGGGTTTACCCTC	0.378													63	98					1.84395e-34	2.6359e-34	1	0	T	163393462	G	T	163393462	3	4	385	1	0	0	0	0	1	0	0	0	8090	1232	43	4	3276	4	KCNH7	2	163393462	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	19115	163393462	79805911	49	74044											
ABCB11	8647	broad.mit.edu	37	chr2	169780147	169780147	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtcaactgatgggggaTccagtggtgactagtttgta	8	13	15	5	0	1	2	1	2	0	0	2	3	2	3	1	4	1	2	1	4	3	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:169780147T>C	ENST00000263817.6	-	28	4075	c.3951A>G	c.(3949-3951)ggA>ggG	p.G1317G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1317					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGATGGGGGATCCAGTGGTGA	0.468													19	58					0	0	0	0	C	169780147	T	C	169780147	2	2	385	1	0	0	0	0	0	0	0	1	42	1422	50	5		5	ABCB11	2	169780147	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	6386685	169780147	73419226	50	74045											
EVX2	344191	broad.mit.edu	37	chr2	176947080	176947080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggagccacccagcgccgcGctcccgccgctgcctccgct	3	4	11	23	7	0	0	0	0	0	0	2	1	2	1	8	1	3	3	8	1	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:176947080G>T	ENST00000308618.4	-	2	661	c.525C>A	c.(523-525)agC>agA	p.S175R		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	175						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCAGCGCCGCGCTCCCGCCGC	0.721													9	21					1.58986e-06	1.73794e-06	1	0	T	176947080	G	T	176947080	3	4	385	1	0	0	0	0	1	0	0	0	5332	1078	38	3	911	3	EVX2	2	176947080	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7166933	176947080	66252293	51	74046											
TTN	7273	broad.mit.edu	37	chr2	179466061	179466061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataccaaaacggttttctgCtcgcacacggaagaaatatt	15	10	7	9	3	1	1	0	0	1	1	2	2	1	2	1	2	3	3	1	2	7	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179466061C>T	ENST00000589042.1	-	287	55887	c.55663G>A	c.(55663-55665)Gca>Aca	p.A18555T	TTN_ENST00000460472.2_Missense_Mutation_p.A9490T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9682T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16914T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15987T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9615T|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16914	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTTTTCTGCTCGCACACGG	0.433													30	51					0	0	0	0	T	179466061	C	T	179466061	3	4	385	1	0	0	0	0	1	0	0	0	16831	797	28	4	52334	4	TTN	2	179466061	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2518981	179466061	63733312	52	74047											
TTN	7273	broad.mit.edu	37	chr2	179578646	179578646	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctgcaatgaagctgtGcagctgtctttgccaacagg	11	9	11	10	0	1	1	0	1	1	0	1	2	1	1	2	1	7	4	2	1	4	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179578646G>T	ENST00000589042.1	-	92	26963	c.26739C>A	c.(26737-26739)tgC>tgA	p.C8913*	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.C8596*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.C7669*|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8596	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAAGCTGTGCAGCTGTCTT	0.408													25	35					5.61819e-17	7.17969e-17	1	0	T	179578646	G	T	179578646	4	4	385	1	0	0	0	0	0	1	0	0	16831	1311	46	4	77874	4	TTN	2	179578646	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	112585	179578646	63620727	53	74048											
TTN	7273	broad.mit.edu	37	chr2	179587165	179587165	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctctataccagcacActtggatgggtgcagagcca	10	9	9	13	0	1	1	0	0	1	1	3	2	2	2	3	2	4	2	3	2	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179587165A>T	ENST00000589042.1	-	77	22573	c.22349T>A	c.(22348-22350)gTg>gAg	p.V7450E	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7133E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V6206E|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7133	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCAGCACACTTGGATGGG	0.388													63	82					0	0	0	0	T	179587165	A	T	179587165	3	4	385	1	0	0	0	0	1	0	0	0	16831	159	6	5	82324	5	TTN	2	179587165	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	8519	179587165	63612208	54	74049											
TTN	7273	broad.mit.edu	37	chr2	179611834	179611834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctctagagtctctcctgggGgtgtggagtatctctccaga	6	12	13	10	0	3	2	0	0	3	2	7	3	5	3	2	3	0	2	2	3	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179611834G>A	ENST00000360870.5	-	46	15515	c.15293C>T	c.(15292-15294)cCc>cTc	p.P5098L	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1206	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCCTGGGGGTGTGGAGTA	0.522													58	89					0	0	0	0	A	179611834	G	A	179611834	3	1	385	1	0	0	0	0	1	0	0	0	16831	1232	43	4	95004	4	TTN	2	179611834	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	24669	179611834	63587539	55	74050											
TTN	7273	broad.mit.edu	37	chr2	179612195	179612195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactcagatatttcttcacTggttgtacttcccacaccaa	11	14	4	12	0	3	1	2	0	1	1	4	1	4	1	2	1	2	2	2	1	4	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179612195T>C	ENST00000360870.5	-	46	15154	c.14932A>G	c.(14932-14934)Agt>Ggt	p.S4978G	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1087	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCTTCACTGGTTGTACTT	0.383													34	92					0	0	0	0	C	179612195	T	C	179612195	3	2	385	1	0	0	0	0	1	0	0	0	16831	1580	55	5	95365	5	TTN	2	179612195	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	361	179612195	63587178	56	74051											
TTN	7273	broad.mit.edu	37	chr2	179613197	179613197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaattttttctttataatGtatttcctgctgttccctag	8	20	6	7	0	1	0	0	0	1	0	3	1	3	1	2	1	1	3	2	1	5	10			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179613197G>A	ENST00000360870.5	-	46	14152	c.13930C>T	c.(13930-13932)Cat>Tat	p.H4644Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	758	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTATAATGTATTTCCTGC	0.358													68	124					0	0	0	0	A	179613197	G	A	179613197	3	1	385	1	0	0	0	0	1	0	0	0	16831	1377	48	4	96367	4	TTN	2	179613197	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1002	179613197	63586176	57	74052											
TTN	7273	broad.mit.edu	37	chr2	179639115	179639115	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttccttctatattttcTggggatacaatgcactctaa	10	17	5	9	0	3	0	0	0	3	0	4	1	4	1	1	2	2	1	1	2	5	9			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179639115T>C	ENST00000589042.1	-	30	7100	c.6876A>G	c.(6874-6876)ccA>ccG	p.P2292P	TTN_ENST00000460472.2_Silent_p.P2246P|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.P2292P|TTN_ENST00000342175.6_Silent_p.P2246P|TTN_ENST00000591111.1_Silent_p.P2292P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P2292P|TTN_ENST00000359218.5_Silent_p.P2246P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATATTTTCTGGGGATACAA	0.383													60	95					0	0	0	0	C	179639115	T	C	179639115	2	2	385	1	0	0	0	0	0	0	0	1	16831	1567	55	5		5	TTN	2	179639115	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	25918	179639115	63560258	58	74053											
DNAH7	56171	broad.mit.edu	37	chr2	196891496	196891496	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatttacctatggatttccTtacactaagaagataatcct	14	14	4	9	0	0	2	0	0	0	2	2	3	2	3	3	1	2	0	3	1	7	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:196891496T>A	ENST00000312428.6	-	7	755	c.655A>T	c.(655-657)Agg>Tgg	p.R219W	DNAH7_ENST00000410072.1_Missense_Mutation_p.R219W	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	219	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGATTTCCTTACACTAAGA	0.294													8	23					0	0	0	0	A	196891496	T	A	196891496	3	1	385	1	0	0	0	0	1	0	0	0	4642	1608	56	5	11655	5	DNAH7	2	196891496	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	17252381	196891496	46307877	59	74054											
ERBB4	2066	broad.mit.edu	37	chr2	212495206	212495206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtttccaagaatcttCtcaaggctcttttctttttg	6	19	5	11	0	5	1	1	0	5	1	7	1	6	1	2	1	0	2	2	1	3	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:212495206C>A	ENST00000342788.4	-	17	2370	c.2060G>T	c.(2059-2061)aGa>aTa	p.R687I	ERBB4_ENST00000402597.1_Missense_Mutation_p.R677I|ERBB4_ENST00000436443.1_Missense_Mutation_p.R687I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	687					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAAGAATCTTCTCAAGGCTCT	0.388										TSP Lung(8;0.080)			25	75					3.08376e-08	3.45567e-08	1	0	A	212495206	C	A	212495206	3	1	385	1	0	0	0	0	1	0	0	0	5247	913	32	2	1914	2	ERBB4	2	212495206	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	15603710	212495206	30704167	60	74055											
SPHKAP	80309	broad.mit.edu	37	chr2	228884000	228884000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaaagttcgagaccaCttgctccattttgagtcttt	8	14	11	8	1	1	2	0	1	1	1	3	4	2	3	2	2	1	2	2	2	1	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:228884000C>G	ENST00000392056.3	-	7	1616	c.1570G>C	c.(1570-1572)Gtg>Ctg	p.V524L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V524L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	524						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCGAGACCACTTGCTCCATT	0.512													30	16					0	0	0	0	G	228884000	C	G	228884000	3	3	385	1	0	0	0	0	1	0	0	0	15138	565	20	4	3556	4	SPHKAP	2	228884000	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	16388794	228884000	14315373	61	74056											
CAND2	23066	broad.mit.edu	37	chr3	12868994	12868994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctggacgtgcggaaggCggcctttgaatgcatgtatt	7	11	16	7	3	0	1	0	1	0	0	0	3	0	3	1	5	2	3	1	5	3	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:12868994C>T	ENST00000456430.2	+	13	3307	c.3266C>T	c.(3265-3267)gCg>gTg	p.A1089V	CAND2_ENST00000295989.5_Missense_Mutation_p.A972V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1089					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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						GTGCGGAAGGCGGCCTTTGAA	0.562													3	41					0	0	0	0	T	12868994	C	T	12868994	3	4	385	1	0	0	0	0	1	0	0	0	2641	768	27	1	3316	1	CAND2	3	12868994	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		12868994	185153436	62	74057											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37034472	37034472	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacagggccccatcgccctCcggaggctccaccaccaaat	9	4	9	19	2	0	0	0	0	0	0	3	1	2	1	7	3	0	2	7	3	1	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:37034472C>A	ENST00000322716.5	-	1	323	c.97G>T	c.(97-99)Gag>Tag	p.E33*		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	33						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CCATCGCCCTCCGGAGGCTCC	0.607													23	15					3.83957e-06	4.16654e-06	1	0	A	37034472	C	A	37034472	4	1	385	1	0	0	0	0	0	1	0	0	5222	864	30	2	1730	2	EPM2AIP1	3	37034472	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	24165478	37034472	160987958	63	74058											
ZDHHC3	51304	broad.mit.edu	37	chr3	45000811	45000811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatgccacagccgtcacGgataaaccacatggttccca	11	6	10	14	3	1	0	1	0	0	0	2	2	2	1	4	3	3	1	4	3	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:45000811G>A	ENST00000296127.3	-	2	391	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	ZDHHC3_ENST00000424952.2_Missense_Mutation_p.R40C|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.R40C	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	40						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CAGCCGTCACGGATAAACCAC	0.547													45	36					0	0	0	0	A	45000811	G	A	45000811	3	1	385	1	0	0	0	0	1	0	0	0	17711	1116	39	1	1146	1	ZDHHC3	3	45000811	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7966339	45000811	153021619	64	74059											
DOCK3	1795	broad.mit.edu	37	chr3	51399418	51399418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgaggacctgtaccAccacatgcaggtacagagct	10	8	10	13	0	0	2	0	1	0	1	1	3	1	3	4	2	5	5	4	2	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:51399418A>T	ENST00000266037.9	+	48	5158	c.5135A>T	c.(5134-5136)cAc>cTc	p.H1712L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1712						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GACCTGTACCACCACATGCAG	0.552													9	5					0	0	0	0	T	51399418	A	T	51399418	3	4	385	1	0	0	0	0	1	0	0	0	4724	159	6	5	5325	5	DOCK3	3	51399418	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	6398607	51399418	146623012	65	74060											
GLYCTK	132158	broad.mit.edu	37	chr3	52327209	52327209	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtcagatggcagagcaagGttggtcctcagggcctctct	8	9	14	10	0	3	2	2	0	1	2	5	2	4	2	2	5	1	3	2	5	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:52327209G>T	ENST00000471180.1	+	5	827		c.e5+1		GLYCTK_ENST00000354773.4_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Splice_Site|GLYCTK_ENST00000436784.2_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase						protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GCAGAGCAAGGTTGGTCCTCA	0.567													5	7					0.014758	0.015166	1	0	T	52327209	G	T	52327209	5	4	385	1	0	0	0	0	0	0	1	0	6533	1276	44	4		4	GLYCTK	3	52327209	Splice_Site	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	927791	52327209	145695221	66	74061											
ROBO1	6091	broad.mit.edu	37	chr3	78701019	78701019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccggctgcttcaccacaTctgaaatctgctgagcgagg	9	8	12	12	2	3	2	1	2	2	0	3	3	3	2	2	3	3	3	2	3	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:78701019T>A	ENST00000436010.2	-	17	3555	c.2558A>T	c.(2557-2559)gAt>gTt	p.D853V	ROBO1_ENST00000495273.1_Missense_Mutation_p.D856V|ROBO1_ENST00000467549.1_Missense_Mutation_p.D856V|ROBO1_ENST00000464233.1_Missense_Mutation_p.D892V			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	892	Fibronectin type-III 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTTCACCACATCTGAAATCTG	0.498													51	39					0	0	0	0	A	78701019	T	A	78701019	3	1	385	1	0	0	0	0	1	0	0	0	13598	1435	50	5	2332	5	ROBO1	3	78701019	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	26373810	78701019	119321411	67	74062											
CADM2	253559	broad.mit.edu	37	chr3	85984983	85984983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcctttaattttgaCttgtgaatccaaaggaaaac	15	11	8	7	0	0	2	0	2	0	0	1	4	1	4	2	2	2	0	2	2	5	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:85984983C>A	ENST00000383699.3	+	7	1394	c.767C>A	c.(766-768)aCt>aAt	p.T256N	CADM2_ENST00000405615.2_Missense_Mutation_p.T249N|CADM2_ENST00000407528.2_Missense_Mutation_p.T247N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	247	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTAATTTTGACTTGTGAATCC	0.308													57	43					6.12789e-21	8.18275e-21	1	0	A	85984983	C	A	85984983	3	1	385	1	0	0	0	0	1	0	0	0	2592	565	20	4	833	4	CADM2	3	85984983	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	7283964	85984983	112037447	68	74063											
CRYBG3	131544	broad.mit.edu	37	chr3	97596761	97596761	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcttatcatcagtatctGcagacttcccaaagtcattc	11	13	6	11	0	4	1	3	0	1	1	6	1	5	1	1	0	2	3	1	0	3	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:97596761G>T	ENST00000182096.4	+	1	943	c.879G>T	c.(877-879)ctG>ctT	p.L293L		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATCAGTATCTGCAGACTTCCC	0.418													10	56					7.03913e-09	7.96815e-09	1	0	T	97596761	G	T	97596761	2	4	385	1	0	0	0	0	0	0	0	1	3943	1306	46	4		4	CRYBG3	3	97596761	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	11611778	97596761	100425669	69	74064											
ZBTB11	27107	broad.mit.edu	37	chr3	101390839	101390839	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaacacaagttcatgttTggatactggcttcttttttg	10	17	7	7	0	2	0	1	0	1	0	2	1	2	1	0	2	3	3	0	2	4	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:101390839T>A	ENST00000312938.4	-	2	1109	c.529A>T	c.(529-531)Aaa>Taa	p.K177*	ZBTB11_ENST00000461821.1_Nonsense_Mutation_p.K177*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTTCATGTTTGGATACTGGC	0.388													14	59					0	0	0	0	A	101390839	T	A	101390839	4	1	385	1	0	0	0	0	0	1	0	0	17619	1821	63	5	2672	5	ZBTB11	3	101390839	Nonsense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	3794078	101390839	96631591	70	74065											
DZIP3	9666	broad.mit.edu	37	chr3	108335438	108335438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaaattgttcctgctttGactttacgtttcttgattac	8	18	8	7	1	1	2	0	2	1	0	2	4	2	3	1	1	3	3	1	1	3	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:108335438G>A	ENST00000361582.3	+	5	539	c.309G>A	c.(307-309)ttG>ttA	p.L103L	DZIP3_ENST00000463306.1_Silent_p.L103L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	103					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTCCTGCTTTGACTTTACGTT	0.353													20	62					0	0	0	0	A	108335438	G	A	108335438	2	1	385	1	0	0	0	0	0	0	0	1	4901	1281	45	2		2	DZIP3	3	108335438	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	6944599	108335438	89686992	71	74066											
POLQ	10721	broad.mit.edu	37	chr3	121260261	121260261	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataaacaaagctttcttccGcatttccaaaacccgcttca	14	11	3	13	2	2	0	1	0	1	0	4	0	4	0	3	0	3	3	3	0	6	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:121260261G>T	ENST00000264233.5	-	3	537	c.409C>A	c.(409-411)Cgg>Agg	p.R137R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	137	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTTCTTCCGCATTTCCAAA	0.353								DNA polymerases (catalytic subunits)					47	176					1.00776e-21	1.35788e-21	1	0	T	121260261	G	T	121260261	2	4	385	1	0	0	0	0	0	0	0	1	12280	1086	38	3		3	POLQ	3	121260261	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	12924823	121260261	76762169	72	74067											
SEMA5B	54437	broad.mit.edu	37	chr3	122629074	122629074	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgggtagtaagtagtCgtgtacacattggtctgctg	7	13	15	6	1	1	0	0	0	1	0	2	0	1	0	0	3	2	6	0	3	4	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:122629074C>A	ENST00000357599.3	-	23	3758	c.3372G>T	c.(3370-3372)acG>acT	p.T1124T	SEMA5B_ENST00000451055.2_Silent_p.T1178T|SEMA5B_ENST00000195173.4_3'UTR	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1124					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGTAAGTAGTCGTGTACACAT	0.547													12	54					1.36491e-13	1.677e-13	1	0	A	122629074	C	A	122629074	2	1	385	1	0	0	0	0	0	0	0	1	14125	871	31	3		3	SEMA5B	3	122629074	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1368813	122629074	75393356	73	74068											
KALRN	8997	broad.mit.edu	37	chr3	124048750	124048750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaagatgtgcagtgaaGgtggtctgccatccgagatg	9	9	16	7	1	1	3	0	1	1	2	2	4	2	3	2	3	3	2	2	3	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:124048750G>A	ENST00000360013.3	+	8	1448	c.1321G>A	c.(1321-1323)Ggt>Agt	p.G441S	KALRN_ENST00000240874.3_Missense_Mutation_p.G441S|KALRN_ENST00000460856.1_Missense_Mutation_p.G441S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	441					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGCAGTGAAGGTGGTCTGCC	0.577													33	32					0	0	0	0	A	124048750	G	A	124048750	3	1	385	1	0	0	0	0	1	0	0	0	8028	1000	35	4	1351	4	KALRN	3	124048750	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1419676	124048750	73973680	74	74069											
PLXNA1	5361	broad.mit.edu	37	chr3	126739087	126739087	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccacgagctgaccaatgAcctggacggtgccggcatcc	9	6	11	15	3	0	2	0	2	0	0	2	4	2	3	5	3	2	2	5	3	1	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:126739087A>T	ENST00000393409.2	+	20	3938	c.3938A>T	c.(3937-3939)gAc>gTc	p.D1313V	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1290V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1313					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGACCAATGACCTGGACGGT	0.627													20	37					0	0	0	0	T	126739087	A	T	126739087	3	4	385	1	0	0	0	0	1	0	0	0	12191	275	10	5	4016	5	PLXNA1	3	126739087	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	2690337	126739087	71283343	75	74070											
GATA2	2624	broad.mit.edu	37	chr3	128202703	128202703	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtgcccgctcctacCagtcttcgcttgggcttgat	4	12	9	16	2	1	1	0	1	1	0	3	1	2	1	5	1	2	3	5	1	1	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:128202703C>T	ENST00000341105.2	-	4	1348	c.1017_splice	c.e4+1	p.L339_splice	GATA2_ENST00000487848.1_Splice_Site_p.L339_splice|GATA2_ENST00000430265.2_Splice_Site_p.L339_splice	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	339					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCGCTCCTACCAGTCTTCGCT	0.602			Mis		AML(CML blast transformation)								3	49					0	0	0	0	T	128202703	C	T	128202703	5	4	385	1	0	0	0	0	0	0	1	0	6303	608	21	4	437	4	GATA2	3	128202703	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1463616	128202703	69819727	76	74071											
MBD4	8930	broad.mit.edu	37	chr3	129155702	129155702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacacacagattctcttttgCtatcactttgaacaaaacct	13	14	3	11	0	2	2	1	1	1	1	3	2	2	2	1	0	4	1	1	0	5	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:129155702C>A	ENST00000429544.2	-	3	980	c.785G>T	c.(784-786)aGc>aTc	p.S262I	MBD4_ENST00000503197.1_Missense_Mutation_p.S262I|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.S262I|MBD4_ENST00000507208.1_Missense_Mutation_p.S262I	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	262					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTCTTTTGCTATCACTTTG	0.378								Base excision repair (BER), DNA glycosylases					4	211					0.014758	0.015166	1	0	A	129155702	C	A	129155702	3	1	385	1	0	0	0	0	1	0	0	0	9415	797	28	4	981	4	MBD4	3	129155702	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	952999	129155702	68866728	77	74072											
PIK3R4	30849	broad.mit.edu	37	chr3	130405134	130405134	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcatgctttaaagtccaCgcattgcttgaagacctaag	14	11	7	9	1	1	2	1	1	0	1	2	2	2	2	2	0	2	3	2	0	5	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:130405134C>T	ENST00000356763.3	-	15	3953	c.3396G>A	c.(3394-3396)gcG>gcA	p.A1132A	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1132					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTAAAGTCCACGCATTGCTTG	0.473													26	45					0	0	0	0	T	130405134	C	T	130405134	2	4	385	1	0	0	0	0	0	0	0	1	11993	523	19	1		1	PIK3R4	3	130405134	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1249432	130405134	67617296	78	74073											
PRR23B	389151	broad.mit.edu	37	chr3	138738793	138738793	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggactccccacgcaCggagagggaggtagaggttg	9	5	17	10	2	0	2	0	0	0	2	1	6	1	5	3	6	0	3	3	6	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:138738793C>A	ENST00000329447.5	-	1	975	c.711G>T	c.(709-711)ccG>ccT	p.P237P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	237	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCCCACGCACGGAGAGGGAG	0.662													14	18					7.93312e-07	8.73623e-07	1	0	A	138738793	C	A	138738793	2	1	385	1	0	0	0	0	0	0	0	1	12675	523	19	3		3	PRR23B	3	138738793	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	8333659	138738793	59283637	79	74074											
ZIC1	7545	broad.mit.edu	37	chr3	147128846	147128846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggcaaggtcttcgcgcgctCcgagaatttaaagatccaca	11	9	10	11	4	1	2	0	0	1	2	4	3	3	2	2	2	0	2	2	2	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:147128846C>G	ENST00000282928.4	+	1	1676	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	316					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S316C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTCGCGCGCTCCGAGAATTTA	0.552													30	31					0	0	0	0	G	147128846	C	G	147128846	3	3	385	1	0	0	0	0	1	0	0	0	17773	855	30	2	949	2	ZIC1	3	147128846	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	8390053	147128846	50893584	80	74075											
AGTR1	185	broad.mit.edu	37	chr3	148459210	148459210	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattgatcgatacctggctAttgttcacccaatgaagtcc	10	12	8	11	1	1	2	1	2	0	0	3	3	2	2	3	1	1	3	3	1	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:148459210A>T	ENST00000542281.1	+	4	834	c.388A>T	c.(388-390)Att>Ttt	p.I130F	AGTR1_ENST00000475347.1_Missense_Mutation_p.I130F|AGTR1_ENST00000461609.1_Missense_Mutation_p.I130F|AGTR1_ENST00000402260.1_Missense_Mutation_p.I130F|AGTR1_ENST00000418473.2_Missense_Mutation_p.I130F|AGTR1_ENST00000349243.3_Missense_Mutation_p.I130F|AGTR1_ENST00000474935.1_Missense_Mutation_p.I130F|AGTR1_ENST00000497524.1_Missense_Mutation_p.I130F|AGTR1_ENST00000404754.2_Missense_Mutation_p.I130F	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	130					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATACCTGGCTATTGTTCACCC	0.498													64	225					0	0	0	0	T	148459210	A	T	148459210	3	4	385	1	0	0	0	0	1	0	0	0	401	449	16	5	390	5	AGTR1	3	148459210	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	1330364	148459210	49563220	81	74076											
MME	4311	broad.mit.edu	37	chr3	154860118	154860118	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccagaaatgctttccgcaAggtgaagaaaaaatctctct	14	10	8	9	1	2	3	0	1	2	2	5	3	4	3	2	1	1	2	2	1	6	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:154860118A>T	ENST00000460393.1	+	12	1307	c.1188_splice	c.e12+1	p.K396_splice	MME_ENST00000493237.1_Splice_Site_p.K396_splice|MME_ENST00000462745.1_Splice_Site_p.K396_splice|MME_ENST00000492661.1_Splice_Site_p.K396_splice|MME_ENST00000360490.2_Splice_Site_p.K396_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	396					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCTTTCCGCAAGGTGAAGAAA	0.388													10	107					0	0	0	0	T	154860118	A	T	154860118	5	4	385	1	0	0	0	0	0	0	1	0	9714	86	3	5	1229	5	MME	3	154860118	Splice_Site	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	6400908	154860118	43162312	82	74077											
PLCH1	23007	broad.mit.edu	37	chr3	155200709	155200709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacatgtgggcagtagataCaatggtgtccccttggctgg	8	11	14	8	0	0	2	0	1	0	1	1	2	1	2	2	4	1	3	2	4	3	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:155200709C>A	ENST00000460012.1	-	23	3373	c.3016G>T	c.(3016-3018)Gta>Tta	p.V1006L	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.V1006L|PLCH1_ENST00000414191.1_Missense_Mutation_p.V1006L|PLCH1_ENST00000340059.7_Missense_Mutation_p.V1044L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1044					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAGTAGATACAATGGTGTCC	0.453													38	160					7.53189e-24	1.03361e-23	1	0	A	155200709	C	A	155200709	3	1	385	1	0	0	0	0	1	0	0	0	12109	478	17	4	1955	4	PLCH1	3	155200709	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	340591	155200709	42821721	83	74078											
C3orf33	285315	broad.mit.edu	37	chr3	155493562	155493562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accattctcagttattcggcGtaatcgtccacgtagtttaa	10	14	7	10	4	1	0	1	0	1	0	5	0	2	0	2	1	0	4	2	1	4	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:155493562G>A	ENST00000534941.1	-	4	390	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	C3orf33_ENST00000340171.2_Missense_Mutation_p.R84C	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	chromosome 3 open reading frame 33	41							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTATTCGGCGTAATCGTCCA	0.303													37	110					0	0	0	0	A	155493562	G	A	155493562	3	1	385	1	0	0	0	0	1	0	0	0	2243	1145	40	1	646	1	C3orf33	3	155493562	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	292853	155493562	42528868	84	74079											
TNIK	23043	broad.mit.edu	37	chr3	170819288	170819288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccatcatgggtctcgctCtctccatcttcctcctcttc	3	15	5	18	1	5	0	1	0	4	0	12	0	9	0	4	1	0	1	4	1	0	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:170819288C>T	ENST00000436636.2	-	22	2885	c.2541G>A	c.(2539-2541)gaG>gaA	p.E847E	TNIK_ENST00000488470.1_Silent_p.E792E|TNIK_ENST00000475336.1_Silent_p.E755E|TNIK_ENST00000470834.1_Silent_p.E810E|TNIK_ENST00000538048.1_Silent_p.E799E|TNIK_ENST00000460047.1_Silent_p.E784E|TNIK_ENST00000369326.5_Silent_p.E825E|TNIK_ENST00000357327.5_Silent_p.E818E|TNIK_ENST00000341852.6_Silent_p.E763E|TNIK_ENST00000284483.8_Silent_p.E839E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	847	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTCTCGCTCTCTCCATCTT	0.498													145	544					0	0	0	0	T	170819288	C	T	170819288	2	4	385	1	0	0	0	0	0	0	0	1	16407	912	32	2		2	TNIK	3	170819288	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	15325726	170819288	27203142	85	74080											
GHSR	2693	broad.mit.edu	37	chr3	172163255	172163255	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggcaaacaccactacaGctaaaaggacaatgggagag	18	4	11	8	0	0	2	0	1	0	1	0	4	0	3	1	3	3	2	1	3	6	2	rs147508651		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:172163255G>C	ENST00000241256.2	-	2	839	c.796_splice	c.e2-1	p.A266_splice		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	266					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.A266D(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CACCACTACAGCTAAAAGGAC	0.428													15	24					0	0	0	0	C	172163255	G	C	172163255	5	2	385	1	0	0	0	0	0	0	1	0	6426	985	34	4	307	4	GHSR	3	172163255	Splice_Site	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1343967	172163255	25859175	86	74081											
MFN1	55669	broad.mit.edu	37	chr3	179103449	179103449	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactcatgattacattagtAacaggattggcgtccgttac	12	12	9	8	2	1	1	1	1	0	0	2	3	2	2	1	2	4	2	1	2	5	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:179103449A>T	ENST00000471841.1	+	15	1881	c.1755A>T	c.(1753-1755)gtA>gtT	p.V585V	MFN1_ENST00000280653.7_Silent_p.V474V|MFN1_ENST00000263969.5_Silent_p.V585V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	585					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTACATTAGTAACAGGATTGG	0.403													33	120					0	0	0	0	T	179103449	A	T	179103449	2	4	385	1	0	0	0	0	0	0	0	1	9592	349	13	5		5	MFN1	3	179103449	Silent	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	6940194	179103449	18918981	87	74082											
LAMP3	27074	broad.mit.edu	37	chr3	182841990	182841990	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaattgtgtagtcagacGagcactcatccactaagaga	14	8	9	10	1	2	2	2	0	0	2	3	4	3	2	1	0	1	3	1	0	3	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:182841990G>T	ENST00000265598.3	-	6	1385	c.1130C>A	c.(1129-1131)tCg>tAg	p.S377*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.S353*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	377					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTAGTCAGACGAGCACTCATC	0.463													16	129					2.48551e-13	3.02878e-13	1	0	T	182841990	G	T	182841990	4	4	385	1	0	0	0	0	0	1	0	0	8672	1059	37	3	124	3	LAMP3	3	182841990	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3738541	182841990	15180440	88	74083											
GAK	2580	broad.mit.edu	37	chr4	845576	845576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccccgctcctcccgcgccCcgatcacactgaagttcgag	6	6	8	21	5	1	1	1	1	0	0	4	3	3	1	7	0	0	2	7	0	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:845576C>A	ENST00000314167.4	-	25	3580	c.3470G>T	c.(3469-3471)gGg>gTg	p.G1157V	GAK_ENST00000511163.1_Missense_Mutation_p.G1078V|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1157					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCCCGCGCCCCGATCACACT	0.647													28	23					8.58068e-18	1.10606e-17	1	0	A	845576	C	A	845576	3	1	385	1	0	0	0	0	1	0	0	0	6244	623	22	4	481	4	GAK	4	845576	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		845576	190308700	89	74084											
TEC	7006	broad.mit.edu	37	chr4	48152891	48152891	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attactcaccctccaaacttGgtataaagggagactgtgta	13	11	8	9	0	1	1	1	0	0	1	2	2	2	1	2	2	2	2	2	2	6	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:48152891G>C	ENST00000381501.3	-	10	1018	c.861C>G	c.(859-861)acC>acG	p.T287T	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	287	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCCAAACTTGGTATAAAGGG	0.313													27	126					0	0	0	0	C	48152891	G	C	48152891	2	2	385	1	0	0	0	0	0	0	0	1	15836	1335	47	4		4	TEC	4	48152891	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	47307315	48152891	143001385	90	74085											
FRYL	285527	broad.mit.edu	37	chr4	48512142	48512142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaactccaaaacaccaaaCttgagtgtttccagcaaacc	15	8	5	13	0	0	1	0	1	0	0	2	1	2	1	4	0	6	3	4	0	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:48512142C>G	ENST00000358350.4	-	59	8932	c.8328G>C	c.(8326-8328)aaG>aaC	p.K2776N	FRYL_ENST00000264319.7_Missense_Mutation_p.K172N|FRYL_ENST00000507873.2_Missense_Mutation_p.K172N|FRYL_ENST00000503238.1_Missense_Mutation_p.K2776N|FRYL_ENST00000537810.1_Missense_Mutation_p.K2776N	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2776					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACACCAAACTTGAGTGTTT	0.408													19	62					0	0	0	0	G	48512142	C	G	48512142	3	3	385	1	0	0	0	0	1	0	0	0	6112	564	20	4	737	4	FRYL	4	48512142	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	359251	48512142	142642134	91	74086											
LRRC66	339977	broad.mit.edu	37	chr4	52861265	52861265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctcagcccttgccccGgacagccttggctgctgtat	4	11	10	16	1	1	0	1	0	0	0	2	1	2	1	5	2	4	4	5	2	1	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:52861265G>A	ENST00000343457.3	-	4	1929	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	641						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCTTGCCCCGGACAGCCTTG	0.527													3	44					0	0	0	0	A	52861265	G	A	52861265	2	1	385	1	0	0	0	0	0	0	0	1	9082	1103	39	1		1	LRRC66	4	52861265	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4349123	52861265	138293011	92	74087											
UGT2B15	7366	broad.mit.edu	37	chr4	69519769	69519769	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacacagggtcattaatGactgacttcaatgcattgag	13	11	8	9	0	3	3	3	3	0	0	3	3	3	3	0	1	1	1	0	1	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:69519769G>T	ENST00000338206.5	-	5	1308	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	433					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GGTCATTAATGACTGACTTCA	0.383													5	107					2.0095e-06	2.19129e-06	1	0	T	69519769	G	T	69519769	2	4	385	1	0	0	0	0	0	0	0	1	17054	1277	45	2		2	UGT2B15	4	69519769	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	16658504	69519769	121634507	93	74088											
UGT2B11	10720	broad.mit.edu	37	chr4	70080094	70080094	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtcatataattcccacAggatttcttgttcttgtgaa	11	17	6	7	0	3	1	1	1	2	0	4	2	4	2	1	1	0	1	1	1	4	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:70080094A>C	ENST00000446444.1	-	1	355	c.347T>G	c.(346-348)cTg>cGg	p.L116R	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	116					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAATTCCCACAGGATTTCTTG	0.294													17	52					0	0	0	0	C	70080094	A	C	70080094	3	2	385	1	0	0	0	0	1	0	0	0	17053	188	7	5	1266	5	UGT2B11	4	70080094	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	560325	70080094	121074182	94	74089											
SMR3A	26952	broad.mit.edu	37	chr4	71232543	71232543	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagggagaatcccaccatcCcctcctccaccctatggtcc	8	7	6	20	0	0	1	0	0	0	1	5	2	5	1	9	2	0	0	9	2	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:71232543C>A	ENST00000226460.4	+	3	333	c.237C>A	c.(235-237)tcC>tcA	p.S79S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	79	Poly-Pro.|Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCCACCATCCCCTCCTCCAC	0.552													42	68					8.68246e-10	1.00321e-09	1	0	A	71232543	C	A	71232543	2	1	385	1	0	0	0	0	0	0	0	1	14899	610	22	4		4	SMR3A	4	71232543	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1152449	71232543	119921733	95	74090											
COL25A1	84570	broad.mit.edu	37	chr4	109738585	109738585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggcatgggtaagccatCtggcccctgttttaaagaga	10	9	12	10	0	1	1	0	0	1	1	1	2	1	1	4	3	1	3	4	3	3	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:109738585C>T	ENST00000399132.1	-	37	2460	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	644						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGTAAGCCATCTGGCCCCTGT	0.388													18	35					0	0	0	0	T	109738585	C	T	109738585	3	4	385	1	0	0	0	0	1	0	0	0	3714	913	32	2	42	2	COL25A1	4	109738585	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	38506042	109738585	81415691	96	74091											
ANK2	287	broad.mit.edu	37	chr4	114274404	114274404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgaaggctgctgaggaaGagccaggagagccttttgaa	11	8	16	6	0	0	5	0	3	0	2	0	7	0	6	2	4	3	2	2	4	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:114274404G>C	ENST00000357077.4	+	38	4683	c.4630G>C	c.(4630-4632)Gag>Cag	p.E1544Q	ANK2_ENST00000264366.6_Missense_Mutation_p.E1511Q|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1511					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCTGAGGAAGAGCCAGGAGA	0.433													13	47					0	0	0	0	C	114274404	G	C	114274404	3	2	385	1	0	0	0	0	1	0	0	0	621	943	33	2	4845	2	ANK2	4	114274404	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4535819	114274404	76879872	97	74092											
CCNA2	890	broad.mit.edu	37	chr4	122744744	122744744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctagcagcgccgagcccgCctcgcgggtcgcaggccccg	4	4	15	18	7	0	0	0	0	0	0	2	1	0	0	5	2	4	3	5	2	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:122744744C>T	ENST00000274026.5	-	1	343	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	14					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GCCGAGCCCGCCTCGCGGGTC	0.687													3	4					0	0	0	0	T	122744744	C	T	122744744	3	4	385	1	0	0	0	0	1	0	0	0	2939	739	26	4	1290	4	CCNA2	4	122744744	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	8470340	122744744	68409532	98	74093											
INPP4B	8821	broad.mit.edu	37	chr4	143045799	143045799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagacactggggcaagctgTacgcaagttcctgaaggagc	11	7	13	10	1	1	2	1	1	0	1	2	3	2	3	1	3	3	5	1	3	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:143045799T>G	ENST00000513000.1	-	20	2268	c.1835A>C	c.(1834-1836)tAc>tCc	p.Y612S	INPP4B_ENST00000509777.1_Missense_Mutation_p.Y612S|INPP4B_ENST00000262992.4_Missense_Mutation_p.Y612S|INPP4B_ENST00000508116.1_Missense_Mutation_p.Y612S|INPP4B_ENST00000308502.4_Missense_Mutation_p.Y612S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	612					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GGGCAAGCTGTACGCAAGTTC	0.502													15	34					0	0	0	0	G	143045799	T	G	143045799	3	3	385	1	0	0	0	0	1	0	0	0	7806	1638	57	5	971	5	INPP4B	4	143045799	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	20301055	143045799	48108477	99	74094											
POU4F2	5458	broad.mit.edu	37	chr4	147561662	147561662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcacactgtcccacaataAtatgatcgcgctcaaaccca	13	8	4	16	2	2	1	2	1	0	0	4	1	3	1	3	0	1	1	3	0	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:147561662A>G	ENST00000281321.3	+	2	1180	c.932A>G	c.(931-933)aAt>aGt	p.N311S		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	311	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TCCCACAATAATATGATCGCG	0.607													6	21					0	0	0	0	G	147561662	A	G	147561662	3	3	385	1	0	0	0	0	1	0	0	0	12350	101	4	5	938	5	POU4F2	4	147561662	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	4515863	147561662	43592614	100	74095											
MAB21L2	10586	broad.mit.edu	37	chr4	151504404	151504404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatttcgcccaccgaatttGaggtggtgctctacctaaac	9	12	8	12	2	2	1	1	1	1	0	3	2	2	1	3	2	3	1	3	2	4	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:151504404G>A	ENST00000317605.4	+	1	1328	c.223G>A	c.(223-225)Gag>Aag	p.E75K	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	75					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CACCGAATTTGAGGTGGTGCT	0.607													9	19					0	0	0	0	A	151504404	G	A	151504404	3	1	385	1	0	0	0	0	1	0	0	0	9207	1291	45	2	225	2	MAB21L2	4	151504404	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3942742	151504404	39649872	101	74096											
DCHS2	54798	broad.mit.edu	37	chr4	155253699	155253699	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatagctgtccattctttcCagagtccatgtcaatagctg	10	14	7	10	0	2	1	1	0	1	1	5	1	5	1	3	0	2	2	3	0	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:155253699C>A	ENST00000357232.3	-	9	2163	c.2164G>T	c.(2164-2166)Gga>Tga	p.G722*	DCHS2_ENST00000339452.1_Nonsense_Mutation_p.G1221*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	722	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATTCTTTCCAGAGTCCATG	0.398													11	57					1.08611e-07	1.20799e-07	1	0	A	155253699	C	A	155253699	4	1	385	1	0	0	0	0	0	1	0	0	4320	603	21	4	6750	4	DCHS2	4	155253699	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3749295	155253699	35900577	102	74097											
GUCY1B3	2983	broad.mit.edu	37	chr4	156717623	156717623	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagggtcaaatgatctactTacctgaagcagatagcatac	15	9	8	9	0	2	3	1	2	1	1	2	3	2	3	1	1	5	2	1	1	7	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:156717623T>A	ENST00000264424.8	+	8	1020	c.938T>A	c.(937-939)tTa>tAa	p.L313*	GUCY1B3_ENST00000505764.1_Nonsense_Mutation_p.L293*|GUCY1B3_ENST00000505154.1_Nonsense_Mutation_p.L245*|GUCY1B3_ENST00000507146.1_Nonsense_Mutation_p.L245*|GUCY1B3_ENST00000513437.1_Nonsense_Mutation_p.L245*|GUCY1B3_ENST00000503520.1_Nonsense_Mutation_p.L313*|GUCY1B3_ENST00000502959.1_Nonsense_Mutation_p.L335*	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	313					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ATGATCTACTTACCTGAAGCA	0.373													11	25					0	0	0	0	A	156717623	T	A	156717623	4	1	385	1	0	0	0	0	0	1	0	0	6945	1764	61	5	968	5	GUCY1B3	4	156717623	Nonsense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	1463924	156717623	34436653	103	74098											
DDX60	55601	broad.mit.edu	37	chr4	169138107	169138107	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgtttaacttttcccAaaaagttgtactcagttgtt	10	18	6	7	0	1	0	1	0	0	0	2	1	2	0	1	0	2	5	1	0	4	9			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:169138107A>C	ENST00000393743.3	-	38	5407	c.5116T>G	c.(5116-5118)Tgg>Ggg	p.W1706G		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1706							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AACTTTTCCCAAAAAGTTGTA	0.338													16	34					0	0	0	0	C	169138107	A	C	169138107	3	2	385	1	0	0	0	0	1	0	0	0	4410	130	5	5	26	5	DDX60	4	169138107	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	12420484	169138107	22016169	104	74099											
DDX60L	91351	broad.mit.edu	37	chr4	169369891	169369891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagattccagcatccaaaaaCgtttaagttgcttaaaatga	16	11	6	8	1	0	2	0	1	0	1	2	2	2	2	2	0	3	4	2	0	5	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:169369891C>A	ENST00000511577.1	-	9	1283	c.1036G>T	c.(1036-1038)Gtt>Ttt	p.V346F	DDX60L_ENST00000505890.1_Missense_Mutation_p.V346F|DDX60L_ENST00000260184.7_Missense_Mutation_p.V346F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	346							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATCCAAAAACGTTTAAGTTG	0.303													9	24					1.58986e-06	1.73794e-06	1	0	A	169369891	C	A	169369891	3	1	385	1	0	0	0	0	1	0	0	0	4411	536	19	3	4204	3	DDX60L	4	169369891	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	231784	169369891	21784385	105	74100											
FAT1	2195	broad.mit.edu	37	chr4	187534263	187534263	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcattcccgggagatacCtgcgtcggcatctgtggcct	7	9	13	12	3	1	2	0	0	1	2	3	3	2	2	3	3	3	2	3	3	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:187534263C>T	ENST00000441802.2	-	13	9672	c.9463_splice	c.e13+1	p.G3155_splice		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3155	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGAGATACCTGCGTCGGCA	0.567										HNSCC(5;0.00058)			4	11					0	0	0	0	T	187534263	C	T	187534263	5	4	385	1	0	0	0	0	0	0	1	0	5734	695	24	4	4363	4	FAT1	4	187534263	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	18164372	187534263	3620013	106	74101											
FAT1	2195	broad.mit.edu	37	chr4	187542674	187542675	+	Frame_Shift_Ins	INS	-	-	CC																															tgattgactatgggctgtaaINSccatcccaacgaaactccca																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:187542674_187542675insCC	ENST00000441802.2	-	10	5274_5275	c.5065_5066insGG	c.(5065-5067)tacfs	p.Y1689fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1689	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGGCTGTAACCATCCCAACG	0.386										HNSCC(5;0.00058)			28	55	---	---	---	---					CC	187542675	-	CC	187542674	7	5	385	1	0	1	1	0	0	0	0	0	5734	43	2	0	8772	0	FAT1	4	187542674	Frame_Shift_Ins	INS	-	TCGA-DQ-5629-01A-01D-1870-08	8411	187542674	3611602	107	74102											
TRIML1	339976	broad.mit.edu	37	chr4	189060960	189060960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcgccaggcagctccggtCccaggtgctgcagagcgagg	7	5	15	14	3	0	1	0	0	0	1	3	2	2	1	3	4	4	4	3	4	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:189060960C>A	ENST00000332517.3	+	1	388	c.248C>A	c.(247-249)tCc>tAc	p.S83Y		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	83					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGCTCCGGTCCCAGGTGCTG	0.637													7	26					0.000157383	0.00016516	1	0	A	189060960	C	A	189060960	3	1	385	1	0	0	0	0	1	0	0	0	16645	855	30	2	250	2	TRIML1	4	189060960	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1518286	189060960	2093316	108	74103											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146383	5146383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggctgaaaggctccaggCacgacttccacatggatctg	9	9	11	12	2	1	1	0	1	1	0	4	3	3	2	2	4	0	3	2	4	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:5146383C>A	ENST00000274181.7	+	3	454	c.316C>A	c.(316-318)Cac>Aac	p.H106N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H106N|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	106					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGGCTCCAGGCACGACTTCCA	0.542													54	28					4.73848e-44	6.8173e-44	1	0	A	5146383	C	A	5146383	3	1	385	1	0	0	0	0	1	0	0	0	261	710	25	4	326	4	ADAMTS16	5	5146383	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		5146383	175768877	109	74104											
ADCY2	108	broad.mit.edu	37	chr5	7698397	7698397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattaaaattttaggagactGctactactgtgtatctggac	13	14	8	6	0	1	1	0	0	1	1	1	3	1	2	0	2	3	2	0	2	7	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:7698397G>A	ENST00000338316.4	+	7	1108	c.1019G>A	c.(1018-1020)tGc>tAc	p.C340Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	340					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			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						TTAGGAGACTGCTACTACTGT	0.393													39	162					0	0	0	0	A	7698397	G	A	7698397	3	1	385	1	0	0	0	0	1	0	0	0	294	1319	46	4	1045	4	ADCY2	5	7698397	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2552014	7698397	173216863	110	74105											
CTNND2	1501	broad.mit.edu	37	chr5	11411728	11411728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagtccaccagctcgagaCctgttgtaagctcatcttcg	9	10	10	12	2	2	1	1	0	1	1	5	3	3	2	3	1	2	4	3	1	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:11411728C>G	ENST00000304623.8	-	5	548	c.359G>C	c.(358-360)gGt>gCt	p.G120A	CTNND2_ENST00000503622.1_Missense_Mutation_p.G29A|CTNND2_ENST00000511377.1_Missense_Mutation_p.G29A|CTNND2_ENST00000359640.2_Missense_Mutation_p.G120A|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	120					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGCTCGAGACCTGTTGTAAG	0.368													51	29					0	0	0	0	G	11411728	C	G	11411728	3	3	385	1	0	0	0	0	1	0	0	0	4052	507	18	4	3390	4	CTNND2	5	11411728	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3713331	11411728	169503532	111	74106											
DNAH5	1767	broad.mit.edu	37	chr5	13900483	13900483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctggagccttcacCaataatgaagcctcaagacc	11	8	8	14	0	2	2	2	1	0	1	2	3	2	3	6	1	3	0	6	1	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:13900483C>T	ENST00000265104.4	-	15	2195	c.2091G>A	c.(2089-2091)ttG>ttA	p.L697L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	697	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGCCTTCACCAATAATGAAG	0.408									Kartagener syndrome				7	60					0	0	0	0	T	13900483	C	T	13900483	2	4	385	1	0	0	0	0	0	0	0	1	4641	593	21	4		4	DNAH5	5	13900483	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2488755	13900483	167014777	112	74107											
RASA1	5921	broad.mit.edu	37	chr5	86675667	86675667	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagaaatacttccacCgtaagtggtgaaattttcat	12	13	8	8	1	2	2	2	1	0	1	3	2	3	2	2	2	1	2	2	2	4	6	rs138785106	by1000genomes	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:86675667C>T	ENST00000456692.2	+	19	2187	c.2072_splice	c.e19+1	p.P691_splice	RASA1_ENST00000512763.1_Splice_Site_p.P701_splice|RASA1_ENST00000506290.1_Splice_Site_p.P702_splice|RASA1_ENST00000274376.6_Splice_Site_p.P868_splice	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	868					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATACTTCCACCGTAAGTGGTG	0.303													9	13					0	0	0	0	T	86675667	C	T	86675667	5	4	385	1	0	0	0	0	0	0	1	0	13142	666	23	1	2689	1	RASA1	5	86675667	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	72775184	86675667	94239593	113	74108											
PAM	5066	broad.mit.edu	37	chr5	102343267	102343267	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagaccgggaaaatggtcgGatccagtgttttaaaactga	13	9	12	7	2	0	2	0	1	0	1	2	4	1	4	2	3	1	2	2	3	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:102343267G>T	ENST00000438793.3	+	19	2591	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R	PAM_ENST00000274392.9_Silent_p.R610R|PAM_ENST00000379787.4_Silent_p.R87R|PAM_ENST00000455264.2_Silent_p.R707R|PAM_ENST00000304400.7_Silent_p.R707R|PAM_ENST00000348126.2_Silent_p.R600R|PAM_ENST00000346918.2_Silent_p.R707R	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	707	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AAAATGGTCGGATCCAGTGTT	0.433													21	56					4.35082e-09	4.93757e-09	1	0	T	102343267	G	T	102343267	2	4	385	1	0	0	0	0	0	0	0	1	11483	1161	41	2		2	PAM	5	102343267	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	15667600	102343267	78571993	114	74109											
WDR36	134430	broad.mit.edu	37	chr5	110448824	110448824	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgctgcgatggattgctctAttaggacttgggaccttcct	6	14	12	9	1	1	0	0	0	1	0	2	4	2	3	2	3	3	2	2	3	2	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:110448824A>G	ENST00000506538.2	+	16	2509	c.1936A>G	c.(1936-1938)Att>Gtt	p.I646V	WDR36_ENST00000513710.2_Missense_Mutation_p.I646V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	646					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGATTGCTCTATTAGGACTTG	0.289													19	45					0	0	0	0	G	110448824	A	G	110448824	3	3	385	1	0	0	0	0	1	0	0	0	17386	449	16	5	1998	5	WDR36	5	110448824	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	8105557	110448824	70466436	115	74110											
DMXL1	1657	broad.mit.edu	37	chr5	118485227	118485227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggaatggactgtgaaatGcatgtgtattgccaatggca	12	11	13	5	0	0	1	0	1	0	0	0	3	0	3	1	3	2	4	1	3	5	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:118485227G>C	ENST00000311085.8	+	18	3785	c.3705G>C	c.(3703-3705)atG>atC	p.M1235I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1235I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1235										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTGTGAAATGCATGTGTATT	0.433													21	55					0	0	0	0	C	118485227	G	C	118485227	3	2	385	1	0	0	0	0	1	0	0	0	4631	1319	46	4	3775	4	DMXL1	5	118485227	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	8036403	118485227	62430033	116	74111											
ZNF608	57507	broad.mit.edu	37	chr5	123982854	123982854	+	Missense_Mutation	SNP	C	C	A																															gccataataaagtgactgagCcagggcaggatgtctttgtg																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:123982854C>A	ENST00000306315.5	-	4	3658	c.3223G>T	c.(3223-3225)Gct>Tct	p.A1075S	ZNF608_ENST00000504926.1_Missense_Mutation_p.A648S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1075						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGTGACTGAGCCAGGGCAGGA	0.483													10	31					5.16669e-11	6.11231e-11	1	0	A	123982854	C	A	123982854	3	1	385	1	0	0	0	0	1	0	0	0	18129	739	26	4	1339	4	ZNF608	5	123982854	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	5497627	123982854	56932406	117	74112	1002	2									
ZNF608	57507	broad.mit.edu	37	chr5	123982855	123982855	+	Silent	SNP	C	C	A																															ccataataaagtgactgagcCagggcaggatgtctttgtgt																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:123982855C>A	ENST00000306315.5	-	4	3657	c.3222G>T	c.(3220-3222)ctG>ctT	p.L1074L	ZNF608_ENST00000504926.1_Silent_p.L647L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1074						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GTGACTGAGCCAGGGCAGGAT	0.483													10	32					5.16669e-11	6.11231e-11	1	0	A	123982855	C	A	123982855	2	1	385	1	0	0	0	0	0	0	0	1	18129	581	21	4		4	ZNF608	5	123982855	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1	123982855	56932405	118	74113	1002	2									
SLC27A6	28965	broad.mit.edu	37	chr5	128351610	128351610	+	Frame_Shift_Del	DEL	G	G	-																															aaggatcataaggtgcgtttGgcaattggaaatggcatacg																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:128351610delG	ENST00000262462.4	+	5	2012	c.1002delG	c.(1000-1002)ttfs	p.L334fs	SLC27A6_ENST00000506176.1_Frame_Shift_Del_p.L334fs|SLC27A6_ENST00000395266.1_Frame_Shift_Del_p.L334fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	334					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGTGCGTTTGGCAATTGGAA	0.328													19	29	---	---	---	---					-	128351610	G	-	128351610	7	5	385	1	0	1	0	1	0	0	0	0	14618	1339	47	0	1020	0	SLC27A6	5	128351610	Frame_Shift_Del	DEL	G	TCGA-DQ-5629-01A-01D-1870-08	4368755	128351610	52563650	119	74114											
ADAMTS19	171019	broad.mit.edu	37	chr5	129001220	129001221	+	Frame_Shift_Ins	INS	-	-	A																															aagtgctggtgatacctgctINSggagcaagaagaatcaaagt																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:129001220_129001221insA	ENST00000274487.4	+	16	2581_2582	c.2436_2437insA	c.(2434-2439)gcgagcfs	p.S813fs	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	813	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGATACCTGCTGGAGCAAGAAG	0.406													7	6	---	---	---	---					A	129001221	-	A	129001220	7	5	385	1	0	1	1	0	0	0	0	0	264	1567	55	0	2498	0	ADAMTS19	5	129001220	Frame_Shift_Ins	INS	-	TCGA-DQ-5629-01A-01D-1870-08	649610	129001220	51914040	120	74115											
MATR3	9782	broad.mit.edu	37	chr5	138654693	138654693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcaagccagtgagagttCatttatcccagaagtataaa	14	11	9	7	0	1	2	1	1	0	2	2	3	2	2	2	1	1	3	2	1	6	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:138654693C>T	ENST00000394800.2	+	12	1954	c.1405C>T	c.(1405-1407)Cat>Tat	p.H469Y	MATR3_ENST00000361059.2_Missense_Mutation_p.H469Y|MATR3_ENST00000510056.1_Missense_Mutation_p.H469Y|MATR3_ENST00000502499.1_Missense_Mutation_p.H131Y|MATR3_ENST00000394805.3_Missense_Mutation_p.H469Y|MATR3_ENST00000503811.1_Missense_Mutation_p.H181Y|MATR3_ENST00000509990.1_Missense_Mutation_p.H469Y|MATR3_ENST00000502929.1_Missense_Mutation_p.H469Y|MATR3_ENST00000504203.1_Missense_Mutation_p.H131Y			P43243	MATR3_HUMAN	matrin 3	469	RRM 1.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTGAGAGTTCATTTATCCCA	0.348													9	23					0	0	0	0	T	138654693	C	T	138654693	3	4	385	1	0	0	0	0	1	0	0	0	9406	826	29	2	1431	2	MATR3	5	138654693	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	9653473	138654693	42260567	121	74116											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712201	140712201	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggccgtccaggaccacggCcagcccccgctctccgccac	5	4	11	21	4	1	0	0	0	1	0	3	1	2	1	8	3	1	1	8	3	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140712201C>A	ENST00000517417.1	+	1	1950	c.1950C>A	c.(1948-1950)ggC>ggA	p.G650G	PCDHGA1_ENST00000378105.3_Silent_p.G650G	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCACGGCCAGCCCCCGC	0.706													16	27					1.99824e-07	2.21695e-07	1	0	A	140712201	C	A	140712201	2	1	385	1	0	0	0	0	0	0	0	1	11621	726	26	4		4	PCDHGA1	5	140712201	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2057508	140712201	40203059	122	74117											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751806	140751806	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcaggccagcgagcccggGctgttcagcctgggcctgcg	4	6	17	14	3	1	0	1	0	0	0	1	1	1	0	4	3	5	3	4	3	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140751806G>T	ENST00000576222.1	+	1	1976	c.1845G>T	c.(1843-1845)ggG>ggT	p.G615G	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCCCGGGCTGTTCAGCC	0.687													22	48					5.26018e-13	6.39248e-13	1	0	T	140751806	G	T	140751806	2	4	385	1	0	0	0	0	0	0	0	1	11635	1190	42	4		4	PCDHGB3	5	140751806	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	39605	140751806	40163454	123	74118											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755543	140755543	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggtgcgcacggcgcgcgcCctgctggacagagacgcgct	6	4	17	14	7	0	1	0	0	0	1	0	4	0	2	1	3	2	3	1	3	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140755543C>G	ENST00000517434.1	+	1	1893	c.1893C>G	c.(1891-1893)gcC>gcG	p.A631A	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGCGCCCTGCTGGACA	0.701													17	34					0	0	0	0	G	140755543	C	G	140755543	2	3	385	1	0	0	0	0	0	0	0	1	11629	610	22	4		4	PCDHGA6	5	140755543	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3737	140755543	40159717	124	74119											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764014	140764014	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacactggagtcctgtacgcGctgcaatcctttgattatga	9	12	10	10	2	0	2	0	2	0	0	2	4	2	3	2	1	2	3	2	1	3	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140764014G>C	ENST00000518325.1	+	1	1548	c.1548G>C	c.(1546-1548)gcG>gcC	p.A516A	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTACGCGCTGCAATCCT	0.517													9	21					0	0	0	0	C	140764014	G	C	140764014	2	2	385	1	0	0	0	0	0	0	0	1	11630	1074	38	3		3	PCDHGA7	5	140764014	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	8471	140764014	40151246	125	74120											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768373	140768373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttaaatacattagattttGaagaagtcaaagaatattcc	17	15	5	4	0	1	4	1	1	0	3	2	4	2	4	1	0	1	0	1	0	9	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140768373G>C	ENST00000519479.1	+	1	922	c.922G>C	c.(922-924)Gaa>Caa	p.E308Q	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAGATTTTGAAGAAGTCAA	0.398													7	20					0	0	0	0	C	140768373	G	C	140768373	3	2	385	1	0	0	0	0	1	0	0	0	11636	1291	45	2	924	2	PCDHGB4	5	140768373	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4359	140768373	40146887	126	74121											
RBM27	54439	broad.mit.edu	37	chr5	145648991	145648992	+	Frame_Shift_Ins	INS	-	-	T																															ttatttcgtagatgttaataINStccaagttagaaaaaaacaa																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:145648991_145648992insT	ENST00000265271.5	+	17	2701_2702	c.2535_2536insT	c.(2533-2538)atccaafs	p.Q846fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.Q791fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	846					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATGTTAATATCCAAGTTAGA	0.243													8	20	---	---	---	---					T	145648992	-	T	145648991	7	5	385	1	0	1	1	0	0	0	0	0	13209	439	16	0	2601	0	RBM27	5	145648991	Frame_Shift_Ins	INS	-	TCGA-DQ-5629-01A-01D-1870-08	4880618	145648991	35266269	127	74122											
POU4F3	5459	broad.mit.edu	37	chr5	145719943	145719943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttaaaaagaacgtggTgagagtctggttctgcaacc	12	9	12	8	1	2	2	0	1	2	2	2	4	2	3	2	3	3	2	2	3	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:145719943T>C	ENST00000230732.4	+	2	1042	c.953T>C	c.(952-954)gTg>gCg	p.V318A	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	318					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAACGTGGTGAGAGTCTGG	0.547													9	27					0	0	0	0	C	145719943	T	C	145719943	3	2	385	1	0	0	0	0	1	0	0	0	12351	1696	59	5	959	5	POU4F3	5	145719943	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	70952	145719943	35195317	128	74123											
GABRG2	2566	broad.mit.edu	37	chr5	161576255	161576255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctctggtggagtatggcaCcttgcattattttgtcagca	7	15	11	8	0	2	0	1	0	1	0	2	1	2	1	1	3	3	5	1	3	2	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:161576255C>A	ENST00000356592.3	+	8	1524	c.1064C>A	c.(1063-1065)aCc>aAc	p.T355N	GABRG2_ENST00000414552.2_Missense_Mutation_p.T395N|GABRG2_ENST00000393933.4_Missense_Mutation_p.T260N|GABRG2_ENST00000361925.4_Missense_Mutation_p.T355N	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	355					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAGTATGGCACCTTGCATTAT	0.423													12	43					1.49906e-05	1.60716e-05	1	0	A	161576255	C	A	161576255	3	1	385	1	0	0	0	0	1	0	0	0	6220	507	18	4	1218	4	GABRG2	5	161576255	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	15856312	161576255	19339005	129	74124											
WWC1	23286	broad.mit.edu	37	chr5	167891755	167891755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcggtcaagtcgctgCgctccgagcgtctgatccgt	4	11	11	15	6	2	1	1	1	1	0	7	2	5	1	3	1	2	2	3	1	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:167891755C>T	ENST00000265293.4	+	21	3440	c.2938C>T	c.(2938-2940)Cgc>Tgc	p.R980C	WWC1_ENST00000521089.1_Missense_Mutation_p.R986C|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	980	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAAGTCGCTGCGCTCCGAGCG	0.597													7	24					0	0	0	0	T	167891755	C	T	167891755	3	4	385	1	0	0	0	0	1	0	0	0	17507	768	27	1	3038	1	WWC1	5	167891755	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	6315500	167891755	13023505	130	74125											
SLIT3	6586	broad.mit.edu	37	chr5	168671713	168671713	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtactgtacttacagtcGctctagctgcttcaggtcct	6	14	9	12	1	2	0	1	0	1	0	4	0	3	0	1	1	5	6	1	1	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:168671713G>T	ENST00000519560.1	-	3	756	c.337C>A	c.(337-339)Cga>Aga	p.R113R	SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Silent_p.R113R|SLIT3_ENST00000404867.3_Silent_p.R113R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	113					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTACAGTCGCTCTAGCTGC	0.413													10	22					9.70103e-10	1.118e-09	1	0	T	168671713	G	T	168671713	2	4	385	1	0	0	0	0	0	0	0	1	14829	1095	38	3		3	SLIT3	5	168671713	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	779958	168671713	12243547	131	74126											
NPM1	4869	broad.mit.edu	37	chr5	170818333	170818333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttaggggctggtgcaaagGatgagttgcacattgttgaa	10	12	15	4	0	0	2	0	2	0	0	0	3	0	3	0	4	2	6	0	4	3	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:170818333G>A	ENST00000296930.5	+	3	464	c.163G>A	c.(163-165)Gat>Aat	p.D55N	NPM1_ENST00000517671.1_Missense_Mutation_p.D55N|NPM1_ENST00000351986.6_Missense_Mutation_p.D55N|NPM1_ENST00000393820.2_Missense_Mutation_p.D55N	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	55	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGCAAAGGATGAGTTGCA	0.403			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								21	29					0	0	0	0	A	170818333	G	A	170818333	3	1	385	1	0	0	0	0	1	0	0	0	10658	1174	41	2	173	2	NPM1	5	170818333	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2146620	170818333	10096927	132	74127											
UIMC1	51720	broad.mit.edu	37	chr5	176396024	176396024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctaccctggacagctttGagaaaagcagaacccctccc	11	6	8	16	1	0	2	0	1	0	2	1	4	1	3	5	1	4	3	5	1	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:176396024G>A	ENST00000377219.2	-	6	898	c.732C>T	c.(730-732)ctC>ctT	p.L244L	UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Silent_p.L244L|UIMC1_ENST00000377227.4_Silent_p.L244L	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	244					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACAGCTTTGAGAAAAGCAG	0.517													14	68					0	0	0	0	A	176396024	G	A	176396024	2	1	385	1	0	0	0	0	0	0	0	1	17067	1277	45	2		2	UIMC1	5	176396024	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	5577691	176396024	4519236	133	74128											
FLT4	2324	broad.mit.edu	37	chr5	180053207	180053207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgctggcctctgtcacctCcttgagcaccagggcatgtg	5	11	12	13	0	2	1	1	1	1	0	3	1	3	1	4	2	2	3	4	2	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:180053207C>T	ENST00000261937.6	-	9	1240	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.E388K|FLT4_ENST00000502649.1_Missense_Mutation_p.E388K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	388	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGTCACCTCCTTGAGCACC	0.627													14	46					0	0	0	0	T	180053207	C	T	180053207	3	4	385	1	0	0	0	0	1	0	0	0	5989	864	30	2	3025	2	FLT4	5	180053207	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3657183	180053207	862053	134	74129											
SLC17A3	10786	broad.mit.edu	37	chr6	25851036	25851036	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctgaggtgcttatcCatggataggaaacggggtca	9	13	12	7	1	2	1	1	1	1	0	3	3	3	3	1	5	2	1	1	5	3	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:25851036C>T	ENST00000397060.4	-	7	891	c.782G>A	c.(781-783)tGg>tAg	p.W261*	SLC17A3_ENST00000360657.3_Nonsense_Mutation_p.W183*|SLC17A3_ENST00000361703.6_Nonsense_Mutation_p.W183*	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	183					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GGTGCTTATCCATGGATAGGA	0.413													13	37					0	0	0	0	T	25851036	C	T	25851036	4	4	385	1	0	0	0	0	0	1	0	0	14506	595	21	4	738	4	SLC17A3	6	25851036	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		25851036	145264031	135	74130											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108148	26108148	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccaaagacatacctacTcgttcctgtgacactgaaag	14	8	7	12	1	0	3	0	2	0	1	2	3	1	3	3	0	3	2	3	0	5	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:26108148T>A	ENST00000338379.4	-	1	216	c.174A>T	c.(172-174)cgA>cgT	p.R58R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	58	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						ACATACCTACTCGTTCCTGTG	0.532													24	56					0	0	0	0	A	26108148	T	A	26108148	2	1	385	1	0	0	0	0	0	0	0	1	7177	1538	54	5		5	HIST1H1T	6	26108148	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	257112	26108148	145006919	136	74131											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101036	27101036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagtacctgaccgccgaGatcctggaactggcgggcaa	9	6	14	12	3	0	2	0	1	0	1	1	5	1	4	4	4	2	2	4	4	3	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:27101036G>A	ENST00000359193.2	+	1	205	c.186G>A	c.(184-186)gaG>gaA	p.E62E		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	62					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						TGACCGCCGAGATCCTGGAAC	0.667													24	44					0	0	0	0	A	27101036	G	A	27101036	2	1	385	1	0	0	0	0	0	0	0	1	7183	933	33	2		2	HIST1H2AG	6	27101036	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	992888	27101036	144014031	137	74132											
COL11A2	1302	broad.mit.edu	37	chr6	33145004	33145004	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggggcccgggaagacccTacatacagggaaagagaagt	13	4	14	10	1	0	2	0	0	0	2	0	5	0	4	3	4	2	0	3	4	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:33145004T>A	ENST00000341947.2	-	24	2199		c.e24-2		COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000477772.1_Splice_Site	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGAAGACCCTACATACAGGG	0.547													26	38					0	0	0	0	A	33145004	T	A	33145004	5	1	385	1	0	0	0	0	0	0	1	0	3698	1536	53	5	3412	5	COL11A2	6	33145004	Splice_Site	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	6043968	33145004	137970063	138	74133											
KIF6	221458	broad.mit.edu	37	chr6	39512286	39512286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agactgctgtttacccctttCaaaccaggatagaggaagtt	12	11	9	9	0	1	2	1	0	0	2	1	4	1	4	3	2	3	3	3	2	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:39512286C>G	ENST00000538893.1	-	12	1495	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q	KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373216.3_Intron|KIF6_ENST00000373213.4_Intron|KIF6_ENST00000287152.7_Intron			Q6ZMV9	KIF6_HUMAN	kinesin family member 6	499					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTACCCCTTTCAAACCAGGAT	0.423													10	23					0	0	0	0	G	39512286	C	G	39512286	3	3	385	1	0	0	0	0	1	0	0	0	8359	841	29	2		2	KIF6	6	39512286	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	6367282	39512286	131602781	139	74134											
DAAM2	23500	broad.mit.edu	37	chr6	39843198	39843198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcggggtgtggaccctGacctggctcccttggagaac	7	8	15	11	1	0	3	0	2	0	1	1	5	1	4	3	5	2	1	3	5	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:39843198G>T	ENST00000538976.1	+	11	1437	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	DAAM2_ENST00000274867.4_Missense_Mutation_p.D419Y|DAAM2_ENST00000398904.2_Missense_Mutation_p.D419Y	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	419					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTGGACCCTGACCTGGCTCC	0.572													24	40					5.35356e-11	6.28339e-11	1	0	T	39843198	G	T	39843198	3	4	385	1	0	0	0	0	1	0	0	0	4249	1290	45	2	1293	2	DAAM2	6	39843198	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	330912	39843198	131271869	140	74135											
GFRAL	389400	broad.mit.edu	37	chr6	55223861	55223861	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaagtgcaatgtaccTgtaggaccattacacaaagt	13	11	7	10	0	1	0	1	0	0	0	2	1	2	1	3	1	3	3	3	1	6	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:55223861T>A	ENST00000340465.2	+	6	963	c.877T>A	c.(877-879)Tgt>Agt	p.C293S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	293						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAATGTACCTGTAGGACCAT	0.398													31	63					0	0	0	0	A	55223861	T	A	55223861	3	1	385	1	0	0	0	0	1	0	0	0	6402	1580	55	5	899	5	GFRAL	6	55223861	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	15380663	55223861	115891206	141	74136											
COL21A1	81578	broad.mit.edu	37	chr6	55939064	55939064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccaggctggcctggtgagCcattgcttcccattaaaccc	7	11	9	14	0	0	1	0	1	0	0	2	1	2	1	5	3	3	2	5	3	2	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:55939064C>A	ENST00000244728.5	-	20	2328	c.1931G>T	c.(1930-1932)gGc>gTc	p.G644V	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G641V|COL21A1_ENST00000370808.2_Missense_Mutation_p.G44V|COL21A1_ENST00000535941.1_Missense_Mutation_p.G644V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	644	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCTGGTGAGCCATTGCTTCC	0.328													37	60					5.71845e-15	7.0649e-15	1	0	A	55939064	C	A	55939064	3	1	385	1	0	0	0	0	1	0	0	0	3710	739	26	4	986	4	COL21A1	6	55939064	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	715203	55939064	115176003	142	74137											
DST	667	broad.mit.edu	37	chr6	56357099	56357099	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaaccactttttcccatcGactttgtacactgataagta	11	15	5	10	1	0	2	0	2	0	0	2	3	1	2	2	0	2	2	2	0	4	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:56357099G>A	ENST00000370754.5	-	85	20589	c.20590C>T	c.(20590-20592)Cga>Tga	p.R6864*	DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.R6575*|DST_ENST00000370788.2_Nonsense_Mutation_p.R4489*|DST_ENST00000370769.4_Nonsense_Mutation_p.R6686*|DST_ENST00000446842.2_Nonsense_Mutation_p.R6360*|DST_ENST00000244364.6_Nonsense_Mutation_p.R4272*|DST_ENST00000421834.2_Nonsense_Mutation_p.R4598*			Q03001	DYST_HUMAN	dystonin	6684					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.R6686*(1)		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)			TTTTCCCATCGACTTTGTACA	0.383													18	72					0	0	0	0	A	56357099	G	A	56357099	4	1	385	1	0	0	0	0	0	1	0	0	4819	1066	37	1	2777	1	DST	6	56357099	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	418035	56357099	114757968	143	74138											
BAI3	577	broad.mit.edu	37	chr6	69703783	69703783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgatcttctgatgtctGtggagatcctgagaaatgtg	9	12	13	7	1	3	3	0	2	3	2	4	6	4	3	1	2	0	0	1	2	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:69703783G>T	ENST00000370598.1	+	11	2679	c.1858G>T	c.(1858-1860)Gtg>Ttg	p.V620L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	620					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTGATGTCTGTGGAGATCCT	0.463													53	70					1.86277e-20	2.47999e-20	1	0	T	69703783	G	T	69703783	3	4	385	1	0	0	0	0	1	0	0	0	1304	1377	48	4	1892	4	BAI3	6	69703783	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	13346684	69703783	101411284	144	74139											
COL12A1	1303	broad.mit.edu	37	chr6	75806969	75806969	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacacatttagttcttacCggcggccctggtgggcccct	6	10	12	13	2	1	1	0	0	1	1	1	2	1	1	4	4	1	1	4	4	2	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:75806969C>T	ENST00000322507.8	-	59	8886	c.8577_splice	c.e59+1	p.P2859_splice	COL12A1_ENST00000483888.2_Intron|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Splice_Site_p.P1695_splice|COL12A1_ENST00000416123.2_Splice_Site_p.P2783_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2859	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGTTCTTACCGGCGGCCCTG	0.483													17	46					0	0	0	0	T	75806969	C	T	75806969	5	4	385	1	0	0	0	0	0	0	1	0	3699	666	23	1	646	1	COL12A1	6	75806969	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	6103186	75806969	95308098	145	74140											
RARS2	57038	broad.mit.edu	37	chr6	88229969	88229969	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgctttttttgtcctttAtctgtcttgggaagaaaata	11	18	7	5	0	2	1	0	0	2	1	3	2	3	2	1	1	1	1	1	1	6	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:88229969A>T	ENST00000369536.5	-	13	1086	c.1041T>A	c.(1039-1041)gaT>gaA	p.D347E		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	347					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTTGTCCTTTATCTGTCTTGG	0.313													48	86					0	0	0	0	T	88229969	A	T	88229969	3	4	385	1	0	0	0	0	1	0	0	0	13141	446	16	5	727	5	RARS2	6	88229969	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	12423000	88229969	82885098	146	74141											
SLC22A16	85413	broad.mit.edu	37	chr6	110746270	110746270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacactccactcaggagggCcatagtcccaacaaacaact	15	6	6	14	0	1	0	1	0	0	0	3	1	3	1	3	2	4	0	3	2	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:110746270C>T	ENST00000368919.3	-	8	1606	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A480T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	514					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCAGGAGGGCCATAGTCCCA	0.423													30	49					0	0	0	0	T	110746270	C	T	110746270	3	4	385	1	0	0	0	0	1	0	0	0	14535	739	26	4	197	4	SLC22A16	6	110746270	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	22516301	110746270	60368797	147	74142											
RFPL4B	442247	broad.mit.edu	37	chr6	112671163	112671163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgacttgagcaaagtctgCacgtgagggaggagctccgg	9	6	16	10	3	1	2	0	2	1	0	2	5	2	4	2	3	3	3	2	3	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:112671163C>A	ENST00000441065.2	+	3	565	c.253C>A	c.(253-255)Cac>Aac	p.H85N	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	85	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GCAAAGTCTGCACGTGAGGGA	0.537													13	19					2.31682e-05	2.47202e-05	1	0	A	112671163	C	A	112671163	3	1	385	1	0	0	0	0	1	0	0	0	13338	710	25	4	255	4	RFPL4B	6	112671163	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1924893	112671163	58443904	148	74143											
HS3ST5	222537	broad.mit.edu	37	chr6	114378425	114378425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtatgacatattattttagGgccagttcaatgtcctccca	10	15	7	9	0	1	1	1	1	0	0	3	1	3	1	3	1	0	2	3	1	5	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:114378425G>C	ENST00000312719.5	-	5	2225	c.1037C>G	c.(1036-1038)cCc>cGc	p.P346R	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.P346R			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	346					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ATTATTTTAGGGCCAGTTCAA	0.398													17	44					0	0	0	0	C	114378425	G	C	114378425	3	2	385	1	0	0	0	0	1	0	0	0	7418	1232	43	4	7	4	HS3ST5	6	114378425	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1707262	114378425	56736642	149	74144											
TRDN	10345	broad.mit.edu	37	chr6	123759228	123759228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttttttttccacatcaatgGcagtttccttctcacttttc	6	20	3	12	0	2	0	2	0	1	0	6	0	4	0	2	1	0	2	2	1	1	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:123759228G>C	ENST00000334268.4	-	12	1348	c.1031C>G	c.(1030-1032)gCc>gGc	p.A344G	TRDN_ENST00000398178.3_Missense_Mutation_p.A344G			Q13061	TRDN_HUMAN	triadin	344					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CACATCAATGGCAGTTTCCTT	0.348													4	11					0	0	0	0	C	123759228	G	C	123759228	3	2	385	1	0	0	0	0	1	0	0	0	16563	1203	42	4	1278	4	TRDN	6	123759228	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	9380803	123759228	47355839	150	74145											
TCF21	6943	broad.mit.edu	37	chr6	134210906	134210906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacacgctcaggctggCgtccagctacatcgcccact	7	7	11	16	3	1	0	1	0	0	0	3	1	2	1	2	3	2	4	2	3	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:134210906C>T	ENST00000367882.4	+	1	631	c.371C>T	c.(370-372)gCg>gTg	p.A124V	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.A124V	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	124	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CTCAGGCTGGCGTCCAGCTAC	0.617													17	63					0	0	0	0	T	134210906	C	T	134210906	3	4	385	1	0	0	0	0	1	0	0	0	15785	768	27	1	373	1	TCF21	6	134210906	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	10451678	134210906	36904161	151	74146											
AHI1	54806	broad.mit.edu	37	chr6	135679271	135679271	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaacagactgtcttaccGttggtgctgtatctacctga	9	13	9	10	1	2	2	0	1	2	1	2	2	2	2	2	1	5	4	2	1	5	5	rs73559947	by1000genomes	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:135679271G>T	ENST00000367800.4	-	22	3380	c.3165_splice	c.e22+1	p.T1055_splice	AHI1_ENST00000457866.2_Splice_Site_p.T1055_splice|AHI1_ENST00000417892.2_Splice_Site_p.T409_splice	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1055	SH3.					adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTGTCTTACCGTTGGTGCTGT	0.358													48	203					8.00217e-19	1.05279e-18	1	0	T	135679271	G	T	135679271	5	4	385	1	0	0	0	0	0	0	1	0	413	1159	40	3	450	3	AHI1	6	135679271	Splice_Site	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1468365	135679271	35435796	152	74147											
REPS1	85021	broad.mit.edu	37	chr6	139229952	139229952	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtggtgttgtgcctttgCtctttaagacaagaattcca	10	14	9	8	0	1	2	0	0	1	2	2	2	2	2	2	1	2	2	2	1	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:139229952C>T	ENST00000450536.2	-	18	2643	c.2067_splice	c.e18-1	p.S690_splice	REPS1_ENST00000409812.2_Splice_Site_p.S599_splice|REPS1_ENST00000258062.5_Splice_Site_p.S689_splice|REPS1_ENST00000367663.4_Splice_Site_p.S663_splice|REPS1_ENST00000415951.2_Splice_Site_p.S631_splice			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	690	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TGTGCCTTTGCTCTTTAAGAC	0.363													15	22					0	0	0	0	T	139229952	C	T	139229952	5	4	385	1	0	0	0	0	0	0	1	0	13310	811	28	4	333	4	REPS1	6	139229952	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3550681	139229952	31885115	153	74148											
GRM1	2911	broad.mit.edu	37	chr6	146625871	146625871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatttcctgaaactgaggCtggacactaacacgaggaat	14	10	9	8	1	0	2	0	2	0	0	1	5	1	4	1	3	2	1	1	3	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:146625871C>A	ENST00000392299.2	+	4	1545	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	GRM1_ENST00000361719.2_Missense_Mutation_p.L359M|GRM1_ENST00000507907.1_Missense_Mutation_p.L359M|GRM1_ENST00000282753.1_Missense_Mutation_p.L359M|GRM1_ENST00000355289.4_Missense_Mutation_p.L359M|GRM1_ENST00000492807.2_Missense_Mutation_p.L359M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	359					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAAACTGAGGCTGGACACTAA	0.493													17	33					1.67942e-08	1.8867e-08	1	0	A	146625871	C	A	146625871	3	1	385	1	0	0	0	0	1	0	0	0	6846	796	28	4	1085	4	GRM1	6	146625871	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	7395919	146625871	24489196	154	74149											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153189	151153189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgtttatgatggctcGgcagtacagtcagaagatta	11	11	13	6	1	1	3	1	1	0	2	2	3	1	3	0	3	1	4	0	3	4	4	rs113595784		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:151153189G>T	ENST00000367328.1	+	16	3254	c.2942G>T	c.(2941-2943)cGg>cTg	p.R981L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R981L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507													55	105					4.78724e-31	6.75668e-31	1	0	T	151153189	G	T	151153189	3	4	385	1	0	0	0	0	1	0	0	0	12140	1116	39	3	2996	3	PLEKHG1	6	151153189	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4527318	151153189	19961878	155	74150											
SYNE1	23345	broad.mit.edu	37	chr6	152786476	152786476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactgtattgccatagcGatcccagttagagatcactt	11	11	8	11	1	1	1	1	0	0	1	2	3	2	1	3	0	3	2	3	0	3	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:152786476G>T	ENST00000367255.5	-	18	2450	c.1849C>A	c.(1849-1851)Cgc>Agc	p.R617S	SYNE1_ENST00000341594.5_Missense_Mutation_p.R624S|SYNE1_ENST00000367253.4_Missense_Mutation_p.R617S|SYNE1_ENST00000413186.2_Missense_Mutation_p.R617S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R624S|SYNE1_ENST00000466159.2_Missense_Mutation_p.R617S|SYNE1_ENST00000367248.3_Missense_Mutation_p.R607S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R617S|SYNE1_ENST00000495090.2_Missense_Mutation_p.R184S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R624S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	617					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCCATAGCGATCCCAGTTA	0.448										HNSCC(10;0.0054)			29	55					1.08312e-15	1.34936e-15	1	0	T	152786476	G	T	152786476	3	4	385	1	0	0	0	0	1	0	0	0	15536	1058	37	3	25133	3	SYNE1	6	152786476	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1633287	152786476	18328591	156	74151											
T	6862	broad.mit.edu	37	chr6	166578115	166578115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggagtacccaggttgctgGctgtctccgggttcctccat	4	12	13	12	1	1	0	0	0	1	0	4	1	3	1	4	4	2	5	4	4	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:166578115G>A	ENST00000296946.2	-	6	1176	c.708C>T	c.(706-708)agC>agT	p.S236S	T_ENST00000366871.3_Silent_p.S236S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	236					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CAGGTTGCTGGCTGTCTCCGG	0.418									Chordoma, Familial Clustering of				29	58					0	0	0	0	A	166578115	G	A	166578115	2	1	385	1	0	0	0	0	0	0	0	1	15579	1194	42	4		4	T	6	166578115	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	13791639	166578115	4536952	157	74152											
RPS6KA2	6196	broad.mit.edu	37	chr6	167271702	167271702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacttcttctgcagtgtCttctgtggtgggctccacat	5	16	10	10	0	4	0	0	0	4	0	5	0	5	0	1	2	2	3	1	2	1	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:167271702C>A	ENST00000510118.1	-	2	449	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	RP11-514O12.4_ENST00000507747.1_Missense_Mutation_p.K160N|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.D37Y			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0					axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCTGCAGTGTCTTCTGTGGTG	0.443													10	41					3.62473e-10	4.20998e-10	1	0	A	167271702	C	A	167271702	3	1	385	1	0	0	0	0	1	0	0	0	13736	913	32	2	2303	2	RPS6KA2	6	167271702	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	693587	167271702	3843365	158	74153											
THBS2	7058	broad.mit.edu	37	chr6	169629677	169629677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctcctaccttctcatcgGtcacaccgtcattgtcatcg	6	13	6	16	3	4	0	4	0	1	0	8	0	5	0	3	1	2	1	3	1	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:169629677G>T	ENST00000366787.3	-	15	2498	c.2249C>A	c.(2248-2250)aCc>aAc	p.T750N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	750					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTTCTCATCGGTCACACCGTC	0.557													11	100					6.40141e-05	6.78154e-05	1	0	T	169629677	G	T	169629677	3	4	385	1	0	0	0	0	1	0	0	0	15948	1261	44	4	1305	4	THBS2	6	169629677	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2357975	169629677	1485390	159	74154											
AMZ1	155185	broad.mit.edu	37	chr7	2752343	2752343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaccgctgggagatgtTcacgggccagctcccggcca	6	6	13	16	4	1	1	1	0	0	1	3	3	2	1	5	3	1	3	5	3	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:2752343T>C	ENST00000312371.4	+	7	1696	c.1328T>C	c.(1327-1329)tTc>tCc	p.F443S	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	443							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGGGAGATGTTCACGGGCCAG	0.687													13	34					0	0	0	0	C	2752343	T	C	2752343	3	2	385	1	0	0	0	0	1	0	0	0	596	1783	62	5	1350	5	AMZ1	7	2752343	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08		2752343	156386320	160	74155											
MIOS	54468	broad.mit.edu	37	chr7	7636045	7636045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaaaccacttcctcgatGtgcgctttgtctcattaata	10	14	6	11	3	1	0	1	0	1	0	5	2	2	0	2	0	2	1	2	0	4	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:7636045G>A	ENST00000340080.4	+	11	2775	c.2354G>A	c.(2353-2355)tGt>tAt	p.C785Y	MIOS_ENST00000405785.1_Missense_Mutation_p.C785Y	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	785										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCCTCGATGTGCGCTTTGT	0.403													60	96					0	0	0	0	A	7636045	G	A	7636045	3	1	385	1	0	0	0	0	1	0	0	0	9658	1377	48	4	2384	4	MIOS	7	7636045	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4883702	7636045	151502618	161	74156											
ITGB8	3696	broad.mit.edu	37	chr7	20371492	20371492	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcaaaacgaccggcgAggtcccgcctcgttcctctg	6	8	11	16	5	1	0	0	0	1	0	4	2	3	0	5	2	3	2	5	2	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:20371492A>T	ENST00000222573.3	+	1	747	c.63A>T	c.(61-63)cgA>cgT	p.R21R	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	21					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACGACCGGCGAGGTCCCGCCT	0.557													23	44					0	0	0	0	T	20371492	A	T	20371492	2	4	385	1	0	0	0	0	0	0	0	1	7954	291	11	5		5	ITGB8	7	20371492	Silent	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	12735447	20371492	138767171	162	74157											
TRIL	9865	broad.mit.edu	37	chr7	28995715	28995715	+	RNA	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggggtgtccccgcgcagctCgcgcagcgtggccgagtcgc	3	5	18	15	7	0	0	0	0	0	0	3	1	1	0	3	3	2	3	3	3	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:28995715C>G	ENST00000322982.3	-	0	2219							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CCGCGCAGCTCGCGCAGCGTG	0.711													2	7					0	0	0	0	G	28995715	C	G	28995715	1	3	385	0	1	0	0	0	0	0	0	0	16580	893	31	3		3	TRIL	7	28995715	RNA	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	8624223	28995715	130142948	163	74158											
NOD1	10392	broad.mit.edu	37	chr7	30472736	30472736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctttaacgtctggttgActttcaacatttctgccaaa	11	15	6	9	1	3	1	1	1	2	0	3	1	3	1	1	1	4	2	1	1	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:30472736A>G	ENST00000222823.4	-	12	3206	c.2681T>C	c.(2680-2682)gTc>gCc	p.V894A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	894					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGTCTGGTTGACTTTCAACAT	0.358													9	46					0	0	0	0	G	30472736	A	G	30472736	3	3	385	1	0	0	0	0	1	0	0	0	10586	275	10	5	192	5	NOD1	7	30472736	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	1477021	30472736	128665927	164	74159											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31142969	31142969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgtgtttgagctggggctgGgctccttccaggtaggtgtg	3	13	17	8	1	0	1	0	1	0	0	3	1	2	1	2	5	1	5	2	5	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:31142969G>T	ENST00000304166.4	+	14	1454	c.1165G>T	c.(1165-1167)Ggc>Tgc	p.G389C	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G368C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G445C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G417C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	389					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCTGGGGCTGGGCTCCTTCCA	0.547													13	67					4.3838e-07	4.83954e-07	1	0	T	31142969	G	T	31142969	3	4	385	1	0	0	0	0	1	0	0	0	303	1232	43	4	1215	4	ADCYAP1R1	7	31142969	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	670233	31142969	127995694	165	74160											
NEUROD6	63974	broad.mit.edu	37	chr7	31378227	31378227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagagtcccatgccctgggGgagtggtgagctcagggctg	7	7	17	10	0	1	2	1	1	0	1	2	3	2	3	2	4	2	2	2	4	1	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:31378227G>A	ENST00000297142.3	-	2	978	c.656C>T	c.(655-657)cCc>cTc	p.P219L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	219					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATGCCCTGGGGGAGTGGTGAG	0.527													26	54					0	0	0	0	A	31378227	G	A	31378227	3	1	385	1	0	0	0	0	1	0	0	0	10421	1232	43	4	361	4	NEUROD6	7	31378227	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	235258	31378227	127760436	166	74161											
ABCA13	154664	broad.mit.edu	37	chr7	48443311	48443311	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggacttaactcagcatCagcacaaacagacccgagct	14	7	8	12	1	2	1	2	0	0	1	2	3	2	2	1	1	5	3	1	1	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:48443311C>T	ENST00000435803.1	+	39	11929	c.11905C>T	c.(11905-11907)Cag>Tag	p.Q3969*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3969	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACTCAGCATCAGCACAAACA	0.478													24	18					0	0	0	0	T	48443311	C	T	48443311	4	4	385	1	0	0	0	0	0	1	0	0	31	827	29	2	11888	2	ABCA13	7	48443311	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	17065084	48443311	110695352	167	74162											
MLXIPL	51085	broad.mit.edu	37	chr7	73010505	73010505	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgggctgggcactgAgtgtgctcacgagcccatga	7	8	16	10	1	1	3	1	3	0	0	1	4	1	3	1	3	2	4	1	3	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:73010505A>C	ENST00000313375.3	-	13	2083	c.2036T>G	c.(2035-2037)cTc>cGc	p.L679R	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679R|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677R|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586R|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677R|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	679					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCACTGAGTGTGCTCAC	0.627													12	55					0	0	0	0	C	73010505	A	C	73010505	3	2	385	1	0	0	0	0	1	0	0	0	9706	304	11	5	542	5	MLXIPL	7	73010505	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	24567194	73010505	86128158	168	74163											
CACNA2D1	781	broad.mit.edu	37	chr7	81579768	81579768	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaactggattccaatGatataccacagggagggatt	15	9	11	6	0	0	2	0	1	0	1	1	5	1	5	2	3	2	1	2	3	5	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:81579768G>T	ENST00000356860.3	-	39	3554	c.3216C>A	c.(3214-3216)atC>atA	p.I1072I	CACNA2D1_ENST00000535308.1_Silent_p.I284I|CACNA2D1_ENST00000356253.5_Silent_p.I1084I	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1084						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGATTCCAATGATATACCACA	0.388													33	78					6.04164e-23	8.24028e-23	1	0	T	81579768	G	T	81579768	2	4	385	1	0	0	0	0	0	0	0	1	2573	1280	45	2		2	CACNA2D1	7	81579768	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	8569263	81579768	77558895	169	74164											
PCLO	27445	broad.mit.edu	37	chr7	82785474	82785474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaacagcacttaaagcGttaacctctgagaggaagcc	15	6	11	9	1	1	1	0	1	1	1	1	5	1	3	2	2	5	2	2	2	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:82785474G>C	ENST00000423517.2	-	2	820	c.483C>G	c.(481-483)aaC>aaG	p.N161K	PCLO_ENST00000333891.8_Missense_Mutation_p.N161K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	161					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTAAAGCGTTAACCTCTG	0.403													32	73					0	0	0	0	C	82785474	G	C	82785474	3	2	385	1	0	0	0	0	1	0	0	0	11654	1136	40	3	15058	3	PCLO	7	82785474	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1205706	82785474	76353189	170	74165											
SAMD9	54809	broad.mit.edu	37	chr7	92732854	92732854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagagagttgctgtattaCggcaatactgtctgggatcc	9	11	14	7	1	1	1	0	0	1	1	2	4	2	3	1	3	3	4	1	3	4	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:92732854C>T	ENST00000379958.2	-	3	2826	c.2557G>A	c.(2557-2559)Gta>Ata	p.V853I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	853						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTGTATTACGGCAATACTG	0.333													24	93					0	0	0	0	T	92732854	C	T	92732854	3	4	385	1	0	0	0	0	1	0	0	0	13911	536	19	1	2216	1	SAMD9	7	92732854	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	9947380	92732854	66405809	171	74166											
DYNC1I1	1780	broad.mit.edu	37	chr7	95664996	95664996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accggaatggctttcccaacGggagacgtcaataacttcgt	11	9	10	11	4	1	1	1	0	0	1	3	3	2	2	2	3	2	1	2	3	4	3	rs142103982		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:95664996G>A	ENST00000324972.6	+	13	1540	c.1347G>A	c.(1345-1347)acG>acA	p.T449T	DYNC1I1_ENST00000437599.1_Silent_p.T429T|DYNC1I1_ENST00000537881.1_Silent_p.T412T|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000447467.2_Silent_p.T432T|DYNC1I1_ENST00000359388.4_Silent_p.T412T|DYNC1I1_ENST00000457059.1_Silent_p.T432T	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	449					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.T449T(2)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTTCCCAACGGGAGACGTCA	0.473													50	138					0	0	0	0	A	95664996	G	A	95664996	2	1	385	1	0	0	0	0	0	0	0	1	4878	1103	39	1		1	DYNC1I1	7	95664996	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2932142	95664996	63473667	172	74167											
MDFIC	29969	broad.mit.edu	37	chr7	114563068	114563068	+	Frame_Shift_Del	DEL	G	G	-																															ctaggcggcagcggcgcggcGcgggctcggcggagcggccc																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:114563068delG	ENST00000257724.3	+	2	570	c.307delG	c.(307-309)cgfs	p.A103fs	MDFIC_ENST00000393486.1_5'UTR|MDFIC_ENST00000423503.1_5'UTR|MDFIC_ENST00000448022.1_5'UTR			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	0					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GCGGCGCGGCGCGGGCTCGGC	0.771													5	4	---	---	---	---					-	114563068	G	-	114563068	7	5	385	1	0	1	0	1	0	0	0	0	9474	1087	38	0	313	0	MDFIC	7	114563068	Frame_Shift_Del	DEL	G	TCGA-DQ-5629-01A-01D-1870-08	18898072	114563068	44575595	173	74168											
WNT2	7472	broad.mit.edu	37	chr7	116918348	116918348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatccgggtgacatgggagGtgtcgtagcctctcccacag	7	9	13	12	2	2	1	1	1	1	0	5	2	3	2	3	3	1	1	3	3	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:116918348G>T	ENST00000265441.3	-	5	1243	c.944C>A	c.(943-945)aCc>aAc	p.T315N		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	315					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACATGGGAGGTGTCGTAGCC	0.602													32	24					1.08312e-15	1.34936e-15	1	0	T	116918348	G	T	116918348	3	4	385	1	0	0	0	0	1	0	0	0	17482	1261	44	4	142	4	WNT2	7	116918348	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2355280	116918348	42220315	174	74169											
GPR37	2861	broad.mit.edu	37	chr7	124387352	124387352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacggaagcggtctaTgcacagagcacataaggtga	13	5	14	9	2	1	2	0	1	1	1	1	3	1	3	0	4	4	4	0	4	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:124387352T>A	ENST00000303921.2	-	2	1719	c.1069A>T	c.(1069-1071)Ata>Tta	p.I357L		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	357						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGCGGTCTATGCACAGAGCA	0.493													13	66					0	0	0	0	A	124387352	T	A	124387352	3	1	385	1	0	0	0	0	1	0	0	0	6740	1464	51	5	776	5	GPR37	7	124387352	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	7469004	124387352	34751311	175	74170											
GRM8	2918	broad.mit.edu	37	chr7	126410105	126410105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcataagatgaatcccgagCaattcgctccagccctgcaa	12	9	7	13	2	1	2	1	1	0	1	4	3	3	2	3	0	3	3	3	0	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:126410105C>G	ENST00000339582.2	-	7	1979	c.1171G>C	c.(1171-1173)Gct>Cct	p.A391P	GRM8_ENST00000444921.2_Missense_Mutation_p.A391P|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.A391P|GRM8_ENST00000358373.3_Missense_Mutation_p.A391P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	391					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAATCCCGAGCAATTCGCTCC	0.388										HNSCC(24;0.065)			12	18					0	0	0	0	G	126410105	C	G	126410105	3	3	385	1	0	0	0	0	1	0	0	0	6853	710	25	4	1625	4	GRM8	7	126410105	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2022753	126410105	32728558	176	74171											
OR2A12	346525	broad.mit.edu	37	chr7	143792691	143792691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatattactcttattctgaGgctgcctttttgtggcccac	6	16	7	12	0	2	1	0	1	2	0	2	1	2	1	3	2	2	1	3	2	3	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:143792691G>T	ENST00000408949.2	+	1	551	c.491G>T	c.(490-492)aGg>aTg	p.R164M		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTATTCTGAGGCTGCCTTTT	0.458													55	74					1.46357e-32	2.07883e-32	1	0	T	143792691	G	T	143792691	3	4	385	1	0	0	0	0	1	0	0	0	11046	1000	35	4	493	4	OR2A12	7	143792691	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	17382586	143792691	15345972	177	74172											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536965	146536965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacacagggagaaactGgaaaccctatcatcaagatg	16	5	10	10	1	2	2	2	0	0	2	2	5	2	3	1	2	3	0	1	2	4	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:146536965G>T	ENST00000361727.3	+	3	887	c.371G>T	c.(370-372)tGg>tTg	p.W124L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	124	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			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)			GGGAGAAACTGGAAACCCTAT	0.443										HNSCC(39;0.1)			19	34					9.95505e-16	1.24718e-15	1	0	T	146536965	G	T	146536965	3	4	385	1	0	0	0	0	1	0	0	0	3677	1357	47	4	381	4	CNTNAP2	7	146536965	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2744274	146536965	12601698	178	74173											
CNTNAP2	26047	broad.mit.edu	37	chr7	147183129	147183129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtggggccacctgccaCaactgtgagtgccaatttat	10	10	10	11	0	0	1	0	1	0	0	0	1	0	1	4	2	4	0	4	2	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:147183129C>A	ENST00000361727.3	+	11	2289	c.1773C>A	c.(1771-1773)caC>caA	p.H591Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	591	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCACCTGCCACAACTGTGAGT	0.458										HNSCC(39;0.1)			19	38					3.51602e-12	4.23823e-12	1	0	A	147183129	C	A	147183129	3	1	385	1	0	0	0	0	1	0	0	0	3677	477	17	4	1815	4	CNTNAP2	7	147183129	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	646164	147183129	11955534	179	74174											
CNTNAP2	26047	broad.mit.edu	37	chr7	147869371	147869371	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggcttcctgggctgcatCcgctccttgaggatgaatgg	6	10	14	11	1	0	2	0	2	0	0	3	3	3	3	3	4	1	4	3	4	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:147869371C>A	ENST00000361727.3	+	18	3327	c.2811C>A	c.(2809-2811)atC>atA	p.I937I	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	937	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGGCTGCATCCGCTCCTTGA	0.537										HNSCC(39;0.1)			23	49					1.64293e-13	2.00753e-13	1	0	A	147869371	C	A	147869371	2	1	385	1	0	0	0	0	0	0	0	1	3677	845	30	2		2	CNTNAP2	7	147869371	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	686242	147869371	11269292	180	74175											
SSPO	23145	broad.mit.edu	37	chr7	149474083	149474083	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacttgttgcccaggctGggggggcgcccactgcactg	5	7	17	12	1	0	0	0	0	0	0	0	2	0	1	2	5	2	3	2	5	0	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:149474083G>T	ENST00000378016.2	+	0	293							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGGCTGGGGGGGCGCC	0.622													12	54					1.05317e-09	1.2106e-09	1	0	T	149474083	G	T	149474083	1	4	385	0	1	0	0	0	0	0	0	0	15279	1357	47	4		4	SSPO	7	149474083	RNA	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1604712	149474083	9664580	181	74176											
CRYGN	155051	broad.mit.edu	37	chr7	151133382	151133382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtgaagttgcaaccctcGaagatttctaggcggaaatg	11	9	11	10	3	1	2	0	1	1	1	2	4	1	3	2	2	2	2	2	2	5	3	rs113942095	by1000genomes	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:151133382G>A	ENST00000337323.2	-	3	426	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	100	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAACCCTCGAAGATTTCTA	0.537													11	24					0	0	0	0	A	151133382	G	A	151133382	2	1	385	1	0	0	0	0	0	0	0	1	3948	1049	37	1		1	CRYGN	7	151133382	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1659299	151133382	8005281	182	74177											
FAM160B2	64760	broad.mit.edu	37	chr8	21960044	21960044	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgattcccgctgtaggtgatCggggacttgatgcagagaat	9	11	14	7	2	0	4	0	3	0	1	2	6	1	5	1	3	1	3	1	3	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:21960044C>T	ENST00000289921.7	+	16	2044	c.1998C>T	c.(1996-1998)atC>atT	p.I666I		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	666										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGTAGGTGATCGGGGACTTGA	0.617													2	0					0	0	0	0	T	21960044	C	T	21960044	2	4	385	1	0	0	0	0	0	0	0	1	5512	874	31	1		1	FAM160B2	8	21960044	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		21960044	124403978	183	74178											
BMP1	649	broad.mit.edu	37	chr8	22056620	22056620	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtcgacactgtgccCgccccaccctcagccctgca	5	6	9	21	2	1	0	1	0	0	0	2	1	1	0	6	1	3	1	6	1	0	0	rs148038163		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:22056620C>T	ENST00000397816.3	+	16	2412	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P	BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306349.8_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACACTGTGCCCGCCCCACCCT	0.622													12	52					0	0	0	0	T	22056620	C	T	22056620	2	4	385	1	0	0	0	0	0	0	0	1	1461	667	23	1		1	BMP1	8	22056620	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	96576	22056620	124307402	184	74179											
TRIM35	23087	broad.mit.edu	37	chr8	27145527	27145527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccagcaggcagggcgccGaggagaagcgttccgggttc	8	4	17	12	4	0	1	0	0	0	1	2	3	1	1	3	4	3	4	3	4	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:27145527G>A	ENST00000305364.4	-	6	1105	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	341	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCAGGGCGCCGAGGAGAAGCG	0.682													8	47					0	0	0	0	A	27145527	G	A	27145527	3	1	385	1	0	0	0	0	1	0	0	0	16604	1059	37	1	463	1	TRIM35	8	27145527	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	5088907	27145527	119218495	185	74180											
CCDC25	55246	broad.mit.edu	37	chr8	27606107	27606107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacattaacgttgttcaTcttgcagcctgccaagagag	11	11	8	11	1	2	1	1	0	1	1	2	2	2	1	3	0	5	3	3	0	3	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:27606107T>C	ENST00000356537.4	-	6	346	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	CCDC25_ENST00000539095.1_Missense_Mutation_p.M17V|CCDC25_ENST00000522915.1_Missense_Mutation_p.M17V|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	85										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		ACGTTGTTCATCTTGCAGCCT	0.488													18	111					0	0	0	0	C	27606107	T	C	27606107	3	2	385	1	0	0	0	0	1	0	0	0	2826	1435	50	5	389	5	CCDC25	8	27606107	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	460580	27606107	118757915	186	74181											
FUT10	84750	broad.mit.edu	37	chr8	33310959	33310959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtaggtgcttcctccatttTtgtatgtccatcttgcaaac	7	16	7	11	1	1	0	0	0	1	0	4	0	4	0	3	1	3	4	3	1	3	6	rs139365562		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:33310959T>C	ENST00000327671.5	-	3	782	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E	FUT10_ENST00000524021.1_Missense_Mutation_p.K23E|FUT10_ENST00000518672.1_Missense_Mutation_p.K23E|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	51					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCCTCCATTTTTGTATGTCCA	0.378													13	75					0	0	0	0	C	33310959	T	C	33310959	3	2	385	1	0	0	0	0	1	0	0	0	6150	1850	64	5	1300	5	FUT10	8	33310959	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	5704852	33310959	113053063	187	74182											
CHRNA6	8973	broad.mit.edu	37	chr8	42620299	42620299	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgaactggttgtaatgaGaaaacagtttgtggaagagc	14	11	13	3	0	0	4	0	3	0	2	0	6	0	5	0	2	3	3	0	2	5	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:42620299G>C	ENST00000276410.2	-	2	483	c.128C>G	c.(127-129)tCt>tGt	p.S43C	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.S43C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	43						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTTGTAATGAGAAAACAGTTT	0.557													22	106					0	0	0	0	C	42620299	G	C	42620299	3	2	385	1	0	0	0	0	1	0	0	0	3416	942	33	2	1376	2	CHRNA6	8	42620299	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	9309340	42620299	103743723	188	74183											
MOS	4342	broad.mit.edu	37	chr8	57025647	57025647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagacggcagcggagaGggacgggcgcaggtcgtagg	9	3	20	9	6	0	2	0	0	0	2	2	5	0	3	0	6	1	3	0	6	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:57025647G>C	ENST00000311923.1	-	1	894	c.895C>G	c.(895-897)Ctc>Gtc	p.L299V		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	299	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGCGGAGAGGGACGGGCGC	0.687													13	26					0	0	0	0	C	57025647	G	C	57025647	3	2	385	1	0	0	0	0	1	0	0	0	9782	1000	35	4	148	4	MOS	8	57025647	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	14405348	57025647	89338375	189	74184											
PENK	5179	broad.mit.edu	37	chr8	57353839	57353839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaagatattaaaatcTcataaatcctccgtatcttt	15	14	5	7	1	2	1	1	0	2	1	5	2	4	2	2	1	0	1	2	1	8	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:57353839T>C	ENST00000314922.3	-	2	872	c.796A>G	c.(796-798)Aga>Gga	p.R266G	PENK_ENST00000451791.2_Missense_Mutation_p.R266G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	266					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TATTAAAATCTCATAAATCCT	0.478													3	177					0	0	0	0	C	57353839	T	C	57353839	3	2	385	1	0	0	0	0	1	0	0	0	11798	1559	54	5	11	5	PENK	8	57353839	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	328192	57353839	89010183	190	74185											
ZFHX4	79776	broad.mit.edu	37	chr8	77766927	77766927	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataaagaagataataattgCagtgaaaaagaaggagggaa	22	6	12	1	0	0	4	0	1	0	3	0	7	0	6	0	2	1	1	0	2	9	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:77766927C>T	ENST00000521891.2	+	10	8218	c.7770C>T	c.(7768-7770)tgC>tgT	p.C2590C	ZFHX4_ENST00000455469.2_Silent_p.C2545C|ZFHX4_ENST00000518282.1_Silent_p.C2564C|ZFHX4_ENST00000050961.6_Silent_p.C2545C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2545						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAATAATTGCAGTGAAAAAG	0.473										HNSCC(33;0.089)			10	24					0	0	0	0	T	77766927	C	T	77766927	2	4	385	1	0	0	0	0	0	0	0	1	17730	718	25	4		4	ZFHX4	8	77766927	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	20413088	77766927	68597095	191	74186											
LRRCC1	85444	broad.mit.edu	37	chr8	86047139	86047139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagagcaaacatgctcttAtttgggctcaacgaaaagaa	17	8	8	8	1	2	2	1	0	1	2	2	3	2	2	0	1	4	3	0	1	7	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:86047139A>T	ENST00000414626.2	+	12	2855	c.1966A>T	c.(1966-1968)Att>Ttt	p.I656F	LRRCC1_ENST00000360375.3_Missense_Mutation_p.I676F			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	676					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACATGCTCTTATTTGGGCTCA	0.313													17	53					0	0	0	0	T	86047139	A	T	86047139	3	4	385	1	0	0	0	0	1	0	0	0	9090	449	16	5	2076	5	LRRCC1	8	86047139	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	8280212	86047139	60316883	192	74187											
UBR5	51366	broad.mit.edu	37	chr8	103373366	103373366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatttacctcaagaagaaagGcagcatgatttggtcccacc	14	9	8	10	0	1	3	1	1	0	2	2	3	2	3	3	2	2	2	3	2	5	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:103373366G>A	ENST00000520539.1	-	3	782	c.176C>T	c.(175-177)gCc>gTc	p.A59V	UBR5_ENST00000220959.4_Missense_Mutation_p.A59V|UBR5_ENST00000521922.1_Missense_Mutation_p.A59V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	59					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAGAAGAAAGGCAGCATGATT	0.333													9	44					0	0	0	0	A	103373366	G	A	103373366	3	1	385	1	0	0	0	0	1	0	0	0	17001	1203	42	4	8451	4	UBR5	8	103373366	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	17326227	103373366	42990656	193	74188											
PKHD1L1	93035	broad.mit.edu	37	chr8	110488740	110488740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctataaacttttataggaaGaagactatgtaattatatca	17	15	5	4	0	2	2	1	0	1	2	2	3	2	3	0	1	1	1	0	1	11	9			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:110488740G>A	ENST00000378402.5	+	52	8865	c.8761G>A	c.(8761-8763)Gaa>Aaa	p.E2921K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2921					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTATAGGAAGAAGACTATGT	0.259										HNSCC(38;0.096)			3	4					0	0	0	0	A	110488740	G	A	110488740	3	1	385	1	0	0	0	0	1	0	0	0	12044	943	33	2	8967	2	PKHD1L1	8	110488740	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7115374	110488740	35875282	194	74189											
CSMD3	114788	broad.mit.edu	37	chr8	114389005	114389005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagctgtacaggtttccagCaaaggaaccaactccacatt	14	8	7	12	0	0	0	0	0	0	0	2	1	2	1	3	2	5	4	3	2	5	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:114389005C>A	ENST00000343508.3	-	2	190	c.20G>T	c.(19-21)tGc>tTc	p.C7F	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000455883.2_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	46						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTTTCCAGCAAAGGAACCA	0.542										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	43					3.21399e-22	4.35697e-22	1	0	A	114389005	C	A	114389005	3	1	385	1	0	0	0	0	1	0	0	0	3978	710	25	4	11267	4	CSMD3	8	114389005	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3900265	114389005	31975017	195	74190											
RAD21	5885	broad.mit.edu	37	chr8	117866561	117866561	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgtctctttccacaTcatcaatttcttggtgggcg	5	16	7	13	1	4	0	2	0	2	0	8	0	7	0	3	2	0	0	3	2	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:117866561T>A	ENST00000297338.2	-	9	1371	c.1084A>T	c.(1084-1086)Atg>Ttg	p.M362L		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	362	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.M362L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCTTTCCACATCATCAATTTC	0.383													19	73					0	0	0	0	A	117866561	T	A	117866561	3	1	385	1	0	0	0	0	1	0	0	0	13063	1435	50	5	835	5	RAD21	8	117866561	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	3477556	117866561	28497461	196	74191											
ZNF696	79943	broad.mit.edu	37	chr8	144378762	144378762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcgccttcagccgcagctCcttcctccgcgagcaccgcc	4	6	9	22	6	1	0	1	0	0	0	4	1	4	0	8	0	3	3	8	0	0	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:144378762C>A	ENST00000330143.3	+	3	1326	c.917C>A	c.(916-918)tCc>tAc	p.S306Y		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGCCGCAGCTCCTTCCTCCGC	0.731													3	10					0.004672	0.00482341	1	0	A	144378762	C	A	144378762	3	1	385	1	0	0	0	0	1	0	0	0	18194	855	30	2	923	2	ZNF696	8	144378762	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	26512201	144378762	1985260	197	74192											
CDKN2A	1029	broad.mit.edu	37	chr9	21970900	21970900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcagatcatcagtcctcaCctgagggaccttccgcggca	8	9	9	15	2	4	2	4	1	1	1	7	3	6	3	4	2	0	1	4	2	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:21970900C>A	ENST00000497750.1	-	2	379	c.305G>T	c.(304-306)gGt>gTt	p.G102V	CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCAGTCCTCACCTGAGGGACC	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	5					3.27435e-08	3.66005e-08	1	0	A	21970900	C	A	21970900	3	1	385	1	0	0	0	0	1	0	0	0	3190	521	18	4	20	4	CDKN2A	9	21970900	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		21970900	119242531	198	74193											
LINGO2	158038	broad.mit.edu	37	chr9	27949285	27949285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgccatcacccaacAcggtggctcttccattggac	9	8	9	15	1	2	0	1	0	1	0	3	1	3	1	4	4	2	1	4	4	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:27949285A>G	ENST00000379992.2	-	6	1834	c.1385T>C	c.(1384-1386)gTg>gCg	p.V462A	LINGO2_ENST00000308675.3_Missense_Mutation_p.V462A	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	462	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ATCACCCAACACGGTGGCTCT	0.537													23	17					0	0	0	0	G	27949285	A	G	27949285	3	3	385	1	0	0	0	0	1	0	0	0	8870	159	6	5	439	5	LINGO2	9	27949285	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	5978385	27949285	113264146	199	74194											
TAF1L	138474	broad.mit.edu	37	chr9	32634220	32634220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatagaaggaagccagcctGccaggcttgcaccctgaggt	11	7	12	11	0	0	2	0	1	0	1	0	3	0	3	4	3	4	2	4	3	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:32634220G>T	ENST00000242310.4	-	1	1447	c.1358C>A	c.(1357-1359)gCa>gAa	p.A453E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	453					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGCCAGCCTGCCAGGCTTGC	0.468													71	50					1.37693e-34	1.97464e-34	1	0	T	32634220	G	T	32634220	3	4	385	1	0	0	0	0	1	0	0	0	15614	1319	46	4	4126	4	TAF1L	9	32634220	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4684935	32634220	108579211	200	74195											
ENHO	375704	broad.mit.edu	37	chr9	34521615	34521615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagcagaggatgacccAgagcagcagcagcaagaagc	14	1	14	12	0	0	4	0	1	0	3	0	5	0	5	2	2	6	5	2	2	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:34521615A>G	ENST00000399775.2	-	2	504	c.79T>C	c.(79-81)Tgg>Cgg	p.W27R	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	27						extracellular region				endometrium(1)|lung(1)	2						AGGATGACCCAGAGCAGCAGC	0.632													9	49					0	0	0	0	G	34521615	A	G	34521615	3	3	385	1	0	0	0	0	1	0	0	0	5157	188	7	5	155	5	ENHO	9	34521615	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	1887395	34521615	106691816	201	74196											
C9orf152	401546	broad.mit.edu	37	chr9	112963437	112963437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagcctctgggattcCggttccttgctgagtcatct	4	13	12	12	1	3	1	1	1	2	0	5	2	5	2	3	3	2	3	3	3	0	3	rs138966973	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:112963437C>T	ENST00000400613.4	-	2	1120	c.511G>A	c.(511-513)Gga>Aga	p.G171R	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	171										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTGGGATTCCGGTTCCTTGC	0.493													26	114					0	0	0	0	T	112963437	C	T	112963437	3	4	385	1	0	0	0	0	1	0	0	0	2488	661	23	1	212	1	C9orf152	9	112963437	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	78441822	112963437	28249994	202	74197											
ZBTB6	10773	broad.mit.edu	37	chr9	125673995	125673995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactttgacaaagcttctgtGcacttttccacaatgtgaac	11	14	6	10	0	1	2	0	2	1	0	2	2	2	2	1	0	4	2	1	0	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:125673995G>A	ENST00000373659.3	-	2	445	c.357C>T	c.(355-357)tgC>tgT	p.C119C		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AAGCTTCTGTGCACTTTTCCA	0.388													17	73					0	0	0	0	A	125673995	G	A	125673995	2	1	385	1	0	0	0	0	0	0	0	1	17647	1311	46	4		4	ZBTB6	9	125673995	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	12710558	125673995	15539436	203	74198											
TOR1B	27348	broad.mit.edu	37	chr9	132565578	132565578	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgttcgagcccatcacCgtgggcctagccatcggggc	5	6	15	15	5	1	0	1	0	0	0	3	1	1	0	4	4	2	1	4	4	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:132565578C>T	ENST00000259339.2	+	1	147	c.87C>T	c.(85-87)acC>acT	p.T29T	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	29					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				AGCCCATCACCGTGGGCCTAG	0.726													11	1					0	0	0	0	T	132565578	C	T	132565578	2	4	385	1	0	0	0	0	0	0	0	1	16469	639	23	1		1	TOR1B	9	132565578	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	6891583	132565578	8647853	204	74199											
SETX	23064	broad.mit.edu	37	chr9	135205410	135205410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagagttagatggcatGgaatgcaatgacagtgaaga	15	9	13	4	0	0	5	0	2	0	3	0	6	0	6	0	2	2	4	0	2	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:135205410G>A	ENST00000372169.2	-	10	1757	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	SETX_ENST00000224140.5_Silent_p.S525S|SETX_ENST00000393220.1_Silent_p.S525S			Q7Z333	SETX_HUMAN	senataxin	525					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAGATGGCATGGAATGCAATG	0.438													102	35					0	0	0	0	A	135205410	G	A	135205410	2	1	385	1	0	0	0	0	0	0	0	1	14228	1335	47	4		4	SETX	9	135205410	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2639832	135205410	6008021	205	74200											
RALGDS	5900	broad.mit.edu	37	chr9	136030665	136030665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctcggagacgatgggcgCcaaccagggtgtgagtgtca	8	7	15	11	3	1	2	1	1	0	1	3	4	2	2	3	3	1	0	3	3	1	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:136030665C>T	ENST00000542690.1	-	6	576	c.296G>A	c.(295-297)gGc>gAc	p.G99D	GBGT1_ENST00000540636.1_Missense_Mutation_p.A70T|GBGT1_ENST00000372038.3_Missense_Mutation_p.G99D|GBGT1_ENST00000372040.3_Missense_Mutation_p.A87T|GBGT1_ENST00000372043.3_Missense_Mutation_p.A87T|GBGT1_ENST00000472281.1_5'UTR			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACGATGGGCGCCAACCAGGGT	0.622			T	CIITA	"PMBL, Hodgkin Lymphona, "								19	14					0	0	0	0	T	136030665	C	T	136030665	3	4	385	1	0	0	0	0	1	0	0	0	13098	739	26	4		4	RALGDS	9	136030665	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	825255	136030665	5182766	206	74201											
ITIH5	80760	broad.mit.edu	37	chr10	7708844	7708844	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccccaggcacagccccagCagcaggagcatggcggggcg	9	1	16	15	2	0	0	0	0	0	0	0	1	0	1	4	5	5	4	4	5	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:7708844C>A	ENST00000256861.6	-	1	90	c.12G>T	c.(10-12)ctG>ctT	p.L4L	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.L4L|ITIH5_ENST00000397145.2_Silent_p.L4L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	4					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACAGCCCCAGCAGCAGGAGCA	0.731													5	18					8.12818e-05	8.57014e-05	1	0	A	7708844	C	A	7708844	2	1	385	1	0	0	0	0	0	0	0	1	7960	697	25	4		4	ITIH5	10	7708844	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		7708844	127825903	207	74202											
ST8SIA6	338596	broad.mit.edu	37	chr10	17432614	17432614	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcgacttctcattcagaTatgtgctgtttcatgaaaga	11	13	10	7	1	3	3	3	1	1	2	4	5	3	4	0	1	2	2	0	1	2	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:17432614T>C	ENST00000377602.4	-	3	280	c.206A>G	c.(205-207)tAt>tGt	p.Y69C	ST8SIA6-AS1_ENST00000451225.2_RNA|ST8SIA6-AS1_ENST00000457649.2_RNA|ST8SIA6-AS1_ENST00000377597.2_RNA	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	69					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CTCATTCAGATATGTGCTGTT	0.318													30	71					0	0	0	0	C	17432614	T	C	17432614	3	2	385	1	0	0	0	0	1	0	0	0	15326	1406	49	5	1014	5	ST8SIA6	10	17432614	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	9723770	17432614	118102133	208	74203											
GPR158	57512	broad.mit.edu	37	chr10	25464376	25464376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccatggcttaccccttactCctctgcctcctgcttgctca	4	13	6	18	0	2	0	1	0	1	0	4	0	4	0	6	1	5	3	6	1	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:25464376C>T	ENST00000376351.3	+	1	386	c.27C>T	c.(25-27)ctC>ctT	p.L9L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	9						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						ACCCCTTACTCCTCTGCCTCC	0.602													23	29					0	0	0	0	T	25464376	C	T	25464376	2	4	385	1	0	0	0	0	0	0	0	1	6712	842	30	2		2	GPR158	10	25464376	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	8031762	25464376	110070371	209	74204											
GAD2	2572	broad.mit.edu	37	chr10	26581417	26581417	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccgggtttgaagcgcaTgttgataaatgtttggagtt	10	14	12	5	2	0	2	0	2	0	0	0	3	0	3	1	2	2	5	1	2	4	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:26581417T>C	ENST00000376261.3	+	14	1913	c.1410T>C	c.(1408-1410)caT>caC	p.H470H	GAD2_ENST00000259271.3_Silent_p.H470H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	470					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			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)	TTGAAGCGCATGTTGATAAAT	0.438													12	20					0	0	0	0	C	26581417	T	C	26581417	2	2	385	1	0	0	0	0	0	0	0	1	6228	1461	51	5		5	GAD2	10	26581417	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	1117041	26581417	108953330	210	74205											
GDF10	2662	broad.mit.edu	37	chr10	48428899	48428899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggccggggtttcagcgcCcggaaggggctgggccacag	5	5	18	13	3	1	0	1	0	0	0	1	1	1	1	4	7	1	2	4	7	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:48428899C>T	ENST00000224605.2	-	2	1252	c.987G>A	c.(985-987)cgG>cgA	p.R329R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	329					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GTTTCAGCGCCCGGAAGGGGC	0.682													8	18					0	0	0	0	T	48428899	C	T	48428899	2	4	385	1	0	0	0	0	0	0	0	1	6362	610	22	4		4	GDF10	10	48428899	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	21847482	48428899	87105848	211	74206											
C10orf71	118461	broad.mit.edu	37	chr10	50531202	50531202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccgctgaagtttccaaCacccatcagaacagctacca	12	7	7	15	1	1	2	1	1	0	1	2	2	2	2	4	0	5	3	4	0	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:50531202C>A	ENST00000374144.3	+	3	900	c.612C>A	c.(610-612)aaC>aaA	p.N204K	C10orf71_ENST00000323868.4_Missense_Mutation_p.N204K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	204										endometrium(1)	1						AAGTTTCCAACACCCATCAGA	0.532													6	17					0.00198382	0.00205286	1	0	A	50531202	C	A	50531202	3	1	385	1	0	0	0	0	1	0	0	0	1624	477	17	4	614	4	C10orf71	10	50531202	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2102303	50531202	85003545	212	74207											
IPMK	253430	broad.mit.edu	37	chr10	59956302	59956302	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattttgtagtggttggCtgagatgaaccttcataaac	11	15	9	6	0	2	2	2	2	0	1	2	3	2	2	1	2	2	3	1	2	5	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:59956302C>T	ENST00000373935.3	-	6	1108	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	262						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAGTGGTTGGCTGAGATGAAC	0.353													13	31					0	0	0	0	T	59956302	C	T	59956302	2	4	385	1	0	0	0	0	0	0	0	1	7845	796	28	4		4	IPMK	10	59956302	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	9425100	59956302	75578445	213	74208											
BICC1	80114	broad.mit.edu	37	chr10	60560767	60560767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgccaaaaggcagaCagtggaactattgcaaggca	13	8	11	9	0	0	1	0	0	0	1	1	2	1	2	2	3	3	3	2	3	5	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:60560767C>A	ENST00000373886.3	+	14	1980	c.1976C>A	c.(1975-1977)aCa>aAa	p.T659K	BICC1_ENST00000263103.1_Missense_Mutation_p.T285K	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	659					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAAAGGCAGACAGTGGAACTA	0.403													25	46					4.16121e-05	4.42936e-05	1	0	A	60560767	C	A	60560767	3	1	385	1	0	0	0	0	1	0	0	0	1432	478	17	4	2030	4	BICC1	10	60560767	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	604465	60560767	74973980	214	74209											
FAM13C	220965	broad.mit.edu	37	chr10	61012595	61012595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattagacatggagagagctGgtggttttacttctttcttt	9	17	10	5	0	2	2	0	0	2	2	2	4	2	3	0	3	2	2	0	3	3	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:61012595G>T	ENST00000373867.3	-	13	1709	c.1244C>A	c.(1243-1245)cCa>cAa	p.P415Q	FAM13C_ENST00000277705.6_Missense_Mutation_p.P519Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.P520Q|FAM13C_ENST00000373868.2_Missense_Mutation_p.P499Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.P499Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.P401Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.P416Q	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	499										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGAGAGCTGGTGGTTTTAC	0.448													30	50					1.06801e-11	1.27362e-11	1	0	T	61012595	G	T	61012595	3	4	385	1	0	0	0	0	1	0	0	0	5495	1348	47	4	273	4	FAM13C	10	61012595	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	451828	61012595	74522152	215	74210											
PANK1	53354	broad.mit.edu	37	chr10	91404850	91404850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgccctgccccccgcgCgccggccccacggcgccggc	1	3	13	24	8	1	0	0	0	1	0	1	0	1	0	8	3	2	0	8	3	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:91404850C>T	ENST00000307534.4	-	1	365	c.210G>A	c.(208-210)gcG>gcA	p.A70A		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	70					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	gccccccgcgcgccggcccca	0.801													3	2					0	0	0	0	T	91404850	C	T	91404850	2	4	385	1	0	0	0	0	0	0	0	1	11487	755	27	1		1	PANK1	10	91404850	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	30392255	91404850	44129897	216	74211											
ZNF518A	9849	broad.mit.edu	37	chr10	97917430	97917430	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatgggcttcaagatgatgGatggaaaacagcatattgta	14	12	11	4	0	1	2	1	1	0	1	1	4	1	4	0	3	2	3	0	3	6	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:97917430G>A	ENST00000534948.1	+	0	2208							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CAAGATGATGGATGGAAAACA	0.373													24	80					0	0	0	0	A	97917430	G	A	97917430	1	1	385	0	1	0	0	0	0	0	0	0	18057	1174	41	2		2	ZNF518A	10	97917430	RNA	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	6512580	97917430	37617317	217	74212											
C10orf12	26148	broad.mit.edu	37	chr10	98741349	98741372	+	In_Frame_Del	DEL	CGCCAGGATTTAGAGGCAAATGAA	CGCCAGGATTTAGAGGCAAATGAA	-																															agtgtccaaaaacacctttgCgccaggatttagaggcaaat																								rs141108014		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:98741349_98741372delCGCCAGGATTTAGAGGCAAATGAA	ENST00000286067.2	+	1	309_332	c.202_225delCGCCAGGATTTAGAGGCAAATGAA	c.(202-225)del	p.RQDLEANE68del		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	68								p.R68L(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)		AACACCTTTGCGCCAGGATTTAGAGGCAAATGAACAAGATGCAA	0.429													10	72	---	---	---	---					-	98741372	CGCCAGGATTTAGAGGCAAATGAA	-	98741349	7	5	385	1	0	1	0	1	0	0	0	0	1599	768	27	0	204	0	C10orf12	10	98741349	In_Frame_Del	DEL	CGCCAGGATTTAGAGGCAAATGAA	TCGA-DQ-5629-01A-01D-1870-08	823919	98741349	36793398	218	74213											
ZFYVE27	118813	broad.mit.edu	37	chr10	99512906	99512906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtctcggctcacggagCggctccgcaagcgctacccc	6	6	13	16	5	2	0	1	0	1	0	4	1	3	1	3	4	3	4	3	4	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:99512906C>T	ENST00000393677.4	+	10	1213	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	ZFYVE27_ENST00000356257.4_Missense_Mutation_p.R342W|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.R298W|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.R244W|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.R330W|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.R212W|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.R237W|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.R330W	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	337					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GCTCACGGAGCGGCTCCGCAA	0.672													3	9					0	0	0	0	T	99512906	C	T	99512906	3	4	385	1	0	0	0	0	1	0	0	0	17764	759	27	1	1058	1	ZFYVE27	10	99512906	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	771557	99512906	36021841	219	74214											
CUTC	51076	broad.mit.edu	37	chr10	101510142	101510142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcaaaaggcaggattgTggtaatgccaggtatttatt	12	12	12	5	0	1	0	1	0	0	0	1	1	1	1	1	5	1	4	1	5	5	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:101510142T>C	ENST00000370476.5	+	7	719	c.590T>C	c.(589-591)gTg>gCg	p.V197A		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	197					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGCAGGATTGTGGTAATGCCA	0.338													20	41					0	0	0	0	C	101510142	T	C	101510142	3	2	385	1	0	0	0	0	1	0	0	0	4095	1696	59	5	616	5	CUTC	10	101510142	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	1997236	101510142	34024605	220	74215											
NRAP	4892	broad.mit.edu	37	chr10	115392938	115392938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttctcatagtcagcacGgtaattcacctgttggattt	9	17	7	8	1	3	0	3	0	1	0	4	1	3	1	1	2	1	3	1	2	2	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:115392938G>A	ENST00000369358.4	-	16	1781	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	NRAP_ENST00000369360.3_Missense_Mutation_p.R478C|NRAP_ENST00000360478.3_Missense_Mutation_p.R478C|NRAP_ENST00000359988.3_Missense_Mutation_p.R513C			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	513						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TAGTCAGCACGGTAATTCACC	0.418													15	42					0	0	0	0	A	115392938	G	A	115392938	3	1	385	1	0	0	0	0	1	0	0	0	10709	1116	39	1	3763	1	NRAP	10	115392938	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	13882796	115392938	20141809	221	74216											
ATRNL1	26033	broad.mit.edu	37	chr10	117026300	117026300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatatttgggggattttCtagtgtactccttaatgata	10	18	9	4	0	1	1	0	1	1	0	2	2	2	2	1	2	1	2	1	2	7	10			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:117026300C>A	ENST00000355044.3	+	12	1925	c.1799C>A	c.(1798-1800)tCt>tAt	p.S600Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	600						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGGGGATTTTCTAGTGTACTC	0.318													35	57					1.60099e-16	2.02852e-16	1	0	A	117026300	C	A	117026300	3	1	385	1	0	0	0	0	1	0	0	0	1211	913	32	2	1845	2	ATRNL1	10	117026300	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1633362	117026300	18508447	222	74217											
DPYSL4	10570	broad.mit.edu	37	chr10	134008362	134008362	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcacagtggaccacgtcttCcccgacacgggtgtgagcct	7	9	11	14	3	2	1	1	1	1	0	3	3	3	2	4	2	1	0	4	2	0	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:134008362C>T	ENST00000338492.4	+	4	491	c.327C>T	c.(325-327)ttC>ttT	p.F109F	DPYSL4_ENST00000368629.1_Silent_p.F32F|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Silent_p.F32F	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	109					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCACGTCTTCCCCGACACGG	0.647													18	49					0	0	0	0	T	134008362	C	T	134008362	2	4	385	1	0	0	0	0	0	0	0	1	4785	854	30	2		2	DPYSL4	10	134008362	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	16982062	134008362	1526385	223	74218											
STK32C	282974	broad.mit.edu	37	chr10	134041490	134041490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctcaccagaggttcAccaggaagacgtgctcgatc	10	6	13	12	2	2	2	2	0	0	2	4	4	2	3	2	4	1	4	2	4	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:134041490A>G	ENST00000368622.1	-	3	491	c.110T>C	c.(109-111)gTg>gCg	p.V37A	STK32C_ENST00000368625.4_Missense_Mutation_p.V167A			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	154							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCAGAGGTTCACCAGGAAGAC	0.592													7	9					0	0	0	0	G	134041490	A	G	134041490	3	3	385	1	0	0	0	0	1	0	0	0	15389	159	6	5	1039	5	STK32C	10	134041490	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	33128	134041490	1493257	224	74219											
ADAM8	101	broad.mit.edu	37	chr10	135084731	135084731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcagcaggtaccgtgCgcacactgggccccctcagc	6	6	12	17	2	1	0	1	0	0	0	2	0	2	0	4	3	4	4	4	3	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:135084731C>T	ENST00000445355.3	-	13	1397	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	ADAM8_ENST00000415217.3_Silent_p.A449A|ADAM8_ENST00000485491.2_Silent_p.A410A	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	410					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.A449A(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGTACCGTGCGCACACTGGG	0.687													4	9					0	0	0	0	T	135084731	C	T	135084731	2	4	385	1	0	0	0	0	0	0	0	1	252	755	27	1		1	ADAM8	10	135084731	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1043241	135084731	450016	225	74220											
CD81	975	broad.mit.edu	37	chr11	2411680	2411680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggtgtggccctgtggctCcgccatgacccgcagaccac	5	7	13	16	2	0	2	0	1	0	1	1	2	1	2	5	3	0	2	5	3	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:2411680C>T	ENST00000263645.5	+	2	361	c.105C>T	c.(103-105)ctC>ctT	p.L35L	CD81_ENST00000381036.3_Silent_p.L73L|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	35					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCTGTGGCTCCGCCATGACC	0.622													24	36					0	0	0	0	T	2411680	C	T	2411680	2	4	385	1	0	0	0	0	0	0	0	1	3068	842	30	2		2	CD81	11	2411680	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		2411680	132594836	226	74221											
DENND5A	23258	broad.mit.edu	37	chr11	9182329	9182329	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctggcaatcagggtgttCtcttccacccctgtgatgtt	6	13	11	11	0	2	1	1	1	1	0	4	1	3	1	3	3	0	4	3	3	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:9182329C>T	ENST00000328194.3	-	12	2687	c.2367G>A	c.(2365-2367)gaG>gaA	p.E789E	DENND5A_ENST00000527700.1_Silent_p.E132E|DENND5A_ENST00000530044.1_Silent_p.E789E	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	789	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAGGGTGTTCTCTTCCACCC	0.512													29	55					0	0	0	0	T	9182329	C	T	9182329	2	4	385	1	0	0	0	0	0	0	0	1	4473	912	32	2		2	DENND5A	11	9182329	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	6770649	9182329	125824187	227	74222											
USH1C	10083	broad.mit.edu	37	chr11	17532004	17532004	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaggcgcgtttgacagAgcctctccacccaatattga	9	9	10	13	3	1	3	0	2	1	1	3	4	1	3	3	1	1	2	3	1	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:17532004A>T	ENST00000005226.7	-	17	1477	c.1478T>A	c.(1477-1479)cTc>cAc	p.L493H	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGTTTGACAGAGCCTCTCCAC	0.502													3	13					0	0	0	0	T	17532004	A	T	17532004	3	4	385	1	0	0	0	0	1	0	0	0	17130	304	11	5	1265	5	USH1C	11	17532004	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	8349675	17532004	117474512	228	74223											
ANO3	63982	broad.mit.edu	37	chr11	26529699	26529699	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctgttcaaagatggcAaaaagagaattgattacatc	16	10	8	7	0	2	3	1	1	1	2	3	5	2	3	1	1	1	2	1	1	5	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:26529699A>T	ENST00000256737.3	+	5	1333	c.481A>T	c.(481-483)Aaa>Taa	p.K161*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.K145*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.K145*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.K15*|ANO3_ENST00000531646.1_Nonsense_Mutation_p.K161*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	161						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAAAGATGGCAAAAAGAGAAT	0.338													8	32					0	0	0	0	T	26529699	A	T	26529699	4	4	385	1	0	0	0	0	0	1	0	0	697	131	5	5	499	5	ANO3	11	26529699	Nonsense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	8997695	26529699	108476817	229	74224											
MTCH2	23788	broad.mit.edu	37	chr11	47653242	47653242	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatgagggtagcagcagaacGagcgatcatctctcgagttg	11	8	14	8	3	2	2	1	1	1	1	4	6	2	2	0	1	4	4	0	1	2	2	rs146228351	by1000genomes	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:47653242G>C	ENST00000302503.3	-	6	548	c.391C>G	c.(391-393)Cgt>Ggt	p.R131G	MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	131					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCAGCAGAACGAGCGATCATC	0.423													16	45					0	0	0	0	C	47653242	G	C	47653242	3	2	385	1	0	0	0	0	1	0	0	0	9984	1058	37	3	552	3	MTCH2	11	47653242	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	21123543	47653242	87353274	230	74225											
OR5D14	219436	broad.mit.edu	37	chr11	55563127	55563127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagattcctctcttccttgtGtttctgctcatgtatgttat	5	20	6	10	0	3	1	1	0	2	1	6	1	5	1	2	0	1	4	2	0	2	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55563127G>A	ENST00000335605.1	+	1	96	c.96G>A	c.(94-96)gtG>gtA	p.V32V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCTTCCTTGTGTTTCTGCTCA	0.388													15	76					0	0	0	0	A	55563127	G	A	55563127	2	1	385	1	0	0	0	0	0	0	0	1	11226	1364	48	4		4	OR5D14	11	55563127	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7909885	55563127	79443389	231	74226											
OR8H2	390151	broad.mit.edu	37	chr11	55872956	55872956	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctcgctctcatcacTgggccttatgtgattggctt	4	15	9	13	1	3	1	2	1	2	0	5	1	3	1	2	2	1	2	2	2	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55872956T>G	ENST00000313503.1	+	1	438	c.438T>G	c.(436-438)acT>acG	p.T146T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCTCATCACTGGGCCTTATG	0.453										HNSCC(53;0.14)			66	100					0	0	0	0	G	55872956	T	G	55872956	2	3	385	1	0	0	0	0	0	0	0	1	11309	1567	55	5		5	OR8H2	11	55872956	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	309829	55872956	79133560	232	74227											
OR8H2	390151	broad.mit.edu	37	chr11	55873223	55873223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattccacttcaggaaagcaGaaagctttctctacttgcgt	12	12	7	10	1	2	1	1	0	1	1	4	2	3	2	1	1	4	2	1	1	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55873223G>C	ENST00000313503.1	+	1	705	c.705G>C	c.(703-705)caG>caC	p.Q235H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q235Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.383										HNSCC(53;0.14)			39	43					0	0	0	0	C	55873223	G	C	55873223	3	2	385	1	0	0	0	0	1	0	0	0	11309	933	33	2	707	2	OR8H2	11	55873223	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	267	55873223	79133293	233	74228											
GLYATL2	219970	broad.mit.edu	37	chr11	58604861	58604861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtataatgatcctggtcatCtttcatctcctgatataaca	11	15	6	9	0	4	2	2	2	2	0	6	2	5	2	2	2	1	1	2	2	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:58604861C>T	ENST00000287275.1	-	4	586	c.196G>A	c.(196-198)Gat>Aat	p.D66N	GLYATL2_ENST00000532258.1_Missense_Mutation_p.D66N|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	66						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCCTGGTCATCTTTCATCTCC	0.363													8	64					0	0	0	0	T	58604861	C	T	58604861	3	4	385	1	0	0	0	0	1	0	0	0	6532	913	32	2	700	2	GLYATL2	11	58604861	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2731638	58604861	76401655	234	74229											
OR4D11	219986	broad.mit.edu	37	chr11	59271125	59271125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaagaccagagtttggTcttgtttctttttttatgtc	7	19	7	8	0	2	2	0	0	2	2	4	2	3	2	2	1	0	2	2	1	2	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:59271125T>A	ENST00000313253.1	+	1	77	c.77T>A	c.(76-78)gTc>gAc	p.V26D		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTTTGGTCTTGTTTCTT	0.433													25	72					0	0	0	0	A	59271125	T	A	59271125	3	1	385	1	0	0	0	0	1	0	0	0	11126	1667	58	5	79	5	OR4D11	11	59271125	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	666264	59271125	75735391	235	74230											
METTL12	751071	broad.mit.edu	37	chr11	62434253	62434253	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaacctgggggctgtGgcttcttcaggctctttcca	5	12	12	12	0	4	1	2	0	2	1	5	1	5	1	2	4	1	4	2	4	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:62434253G>A	ENST00000532971.1	+	3	710	c.453G>A	c.(451-453)gtG>gtA	p.V151V	METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000532208.1_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	151						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TGGGGGCTGTGGCTTCTTCAG	0.592													14	51					0	0	0	0	A	62434253	G	A	62434253	2	1	385	1	0	0	0	0	0	0	0	1	9565	1335	47	4		4	METTL12	11	62434253	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3163128	62434253	72572263	236	74231											
SLC22A12	116085	broad.mit.edu	37	chr11	64359366	64359366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggagcgaggccgacaCggagccgtgtgtggatggct	7	6	18	10	4	0	0	0	0	0	0	0	5	0	3	2	5	3	2	2	5	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:64359366C>G	ENST00000377574.1	+	1	1085	c.338C>G	c.(337-339)aCg>aGg	p.T113R	SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113R|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113R|SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113R	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	113					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GAGGCCGACACGGAGCCGTGT	0.672													9	26					0	0	0	0	G	64359366	C	G	64359366	3	3	385	1	0	0	0	0	1	0	0	0	14531	536	19	3	340	3	SLC22A12	11	64359366	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1925113	64359366	70647150	237	74232											
SNX15	29907	broad.mit.edu	37	chr11	64795103	64795103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccgagtacaaagtaaccGcgcaggtgaggtggggccca	12	4	14	11	3	0	1	0	1	0	0	0	2	0	1	3	4	2	3	3	4	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:64795103G>C	ENST00000377244.3	+	1	224	c.94G>C	c.(94-96)Gcg>Ccg	p.A32P	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	32	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CAAAGTAACCGCGCAGGTGAG	0.577											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	26					0	0	0	0	C	64795103	G	C	64795103	3	2	385	1	0	0	0	0	1	0	0	0	14974	1087	38	3	96	3	SNX15	11	64795103	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	435737	64795103	70211413	238	74233											
NLRX1	79671	broad.mit.edu	37	chr11	119050721	119050721	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaagaagaagctgggcaAgctgggccggcaggtgctgc	10	5	16	10	1	1	2	1	0	0	2	1	2	1	2	1	4	4	5	1	4	4	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:119050721A>T	ENST00000409109.1	+	7	2578	c.1991A>T	c.(1990-1992)aAg>aTg	p.K664M	NLRX1_ENST00000409265.4_Missense_Mutation_p.K664M|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.K664M|NLRX1_ENST00000292199.2_Missense_Mutation_p.K664M|NLRX1_ENST00000525863.1_Missense_Mutation_p.K664M			Q86UT6	NLRX1_HUMAN	NLR family member X1	664	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAGCTGGGCAAGCTGGGCCGG	0.602													5	22					0	0	0	0	T	119050721	A	T	119050721	3	4	385	1	0	0	0	0	1	0	0	0	10555	72	3	5	2013	5	NLRX1	11	119050721	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	54255618	119050721	15955795	239	74234											
HSPA8	3312	broad.mit.edu	37	chr11	122930365	122930365	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctactgggtccagggtGccacggaacaggtcagcatt	8	10	12	11	1	2	0	1	0	1	0	4	1	3	1	2	4	4	1	2	4	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:122930365G>C	ENST00000534624.1	-	5	1212	c.936C>G	c.(934-936)ggC>ggG	p.G312G	HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Silent_p.G312G|HSPA8_ENST00000534319.1_Silent_p.G76G|HSPA8_ENST00000533540.1_Silent_p.G166G|HSPA8_ENST00000227378.3_Silent_p.G312G|HSPA8_ENST00000532636.1_Silent_p.G312G|HSPA8_ENST00000526110.1_Silent_p.G293G	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	312	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCCAGGGTGCCACGGAACA	0.478													23	39					0	0	0	0	C	122930365	G	C	122930365	2	2	385	1	0	0	0	0	0	0	0	1	7468	1306	46	4		4	HSPA8	11	122930365	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3879644	122930365	12076151	240	74235											
OR8B3	390271	broad.mit.edu	37	chr11	124267068	124267068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagattgaagaggaaataGtacattggtgtgtggaggtg	13	10	17	1	0	0	3	0	1	0	2	0	7	0	5	0	4	1	1	0	4	4	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:124267068G>A	ENST00000354597.3	-	1	196	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAGGAAATAGTACATTGGTG	0.378													23	22					0	0	0	0	A	124267068	G	A	124267068	2	1	385	1	0	0	0	0	0	0	0	1	11299	1024	36	4		4	OR8B3	11	124267068	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1336703	124267068	10739448	241	74236											
CHEK1	1111	broad.mit.edu	37	chr11	125525182	125525182	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaagctgattgatattgtGagcagccagaagatttggct	11	11	14	5	0	0	5	0	3	0	2	0	6	0	6	1	2	3	3	1	2	3	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:125525182G>C	ENST00000534070.1	+	13	1653	c.1398G>C	c.(1396-1398)gtG>gtC	p.V466V	CHEK1_ENST00000524737.1_Silent_p.V466V|CHEK1_ENST00000278916.3_Silent_p.V422V|CHEK1_ENST00000427383.2_Silent_p.V482V|CHEK1_ENST00000544373.1_Silent_p.V432V|CHEK1_ENST00000428830.2_Silent_p.V466V|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Silent_p.V466V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	466	Autoinhibitory region.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TTGATATTGTGAGCAGCCAGA	0.398								Other conserved DNA damage response genes					9	18					0	0	0	0	C	125525182	G	C	125525182	2	2	385	1	0	0	0	0	0	0	0	1	3363	1277	45	2		2	CHEK1	11	125525182	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1258114	125525182	9481334	242	74237											
VAMP1	6843	broad.mit.edu	37	chr12	6573649	6573649	+	Frame_Shift_Del	DEL	T	T	-																															tacattctcaagtaaaaaagTagactggacacaggaatcag																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:6573649delT	ENST00000396308.3	-	5	489	c.344delA	c.(343-345)tcfs	p.Y115fs	VAMP1_ENST00000535180.1_Intron|VAMP1_ENST00000361716.3_3'UTR|TAPBPL_ENST00000545700.1_Intron|VAMP1_ENST00000400911.3_Intron|VAMP1_ENST00000544432.1_Intron	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	115					neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding			endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	AGTAAAAAAGTAGACTGGACA	0.473													2	4	---	---	---	---					-	6573649	T	-	6573649	7	5	385	1	0	1	0	1	0	0	0	0	17208	1638	57	0	31	0	VAMP1	12	6573649	Frame_Shift_Del	DEL	T	TCGA-DQ-5629-01A-01D-1870-08		6573649	127278246	243	74238											
ACSM4	341392	broad.mit.edu	37	chr12	7457112	7457112	+	Frame_Shift_Del	DEL	G	G	-																															tgcagatgtgctggaccagtGgtcccaaaaggagaaggtat																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:7457112delG	ENST00000399422.4	+	1	233	c.185delG	c.(184-186)tgfs	p.W62fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	62					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTGGACCAGTGGTCCCAAAAG	0.468													31	71	---	---	---	---					-	7457112	G	-	7457112	7	5	385	1	0	1	0	1	0	0	0	0	186	1357	47	0	187	0	ACSM4	12	7457112	Frame_Shift_Del	DEL	G	TCGA-DQ-5629-01A-01D-1870-08	883463	7457112	126394783	244	74239											
CD163L1	283316	broad.mit.edu	37	chr12	7559427	7559446	+	Frame_Shift_Del	DEL	CTTAGTTCAAGATCACTACT	CTTAGTTCAAGATCACTACT	-																															ggttagttccacctacaagcCttagttcaagatcactacta																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:7559427_7559446delCTTAGTTCAAGATCACTACT	ENST00000313599.3	-	5	826_845	c.769_788delAGTAGTGATCTTGAACTAAG	c.(769-789)gfs	p.SSDLELR257fs	CD163L1_ENST00000416109.2_Frame_Shift_Del_p.SSDLELR267fs|CD163L1_ENST00000396630.1_Frame_Shift_Del_p.SSDLELR257fs			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	257						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACCTACAAGCCTTAGTTCAAGATCACTACTATCTGAAACA	0.414													18	89	---	---	---	---					-	7559446	CTTAGTTCAAGATCACTACT	-	7559427	7	5	385	1	0	1	0	1	0	0	0	0	2997	681	24	0	3633	0	CD163L1	12	7559427	Frame_Shift_Del	DEL	CTTAGTTCAAGATCACTACT	TCGA-DQ-5629-01A-01D-1870-08	102315	7559427	126292468	245	74240											
PZP	5858	broad.mit.edu	37	chr12	9318716	9318716	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtttcagggactggcccTgaactttgttcattatttaa	9	15	8	9	1	2	1	2	1	0	0	2	2	2	2	2	2	1	2	2	2	3	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:9318716T>C	ENST00000261336.2	-	18	2218	c.2190A>G	c.(2188-2190)tcA>tcG	p.S730S	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.S599S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGACTGGCCCTGAACTTTGTT	0.413													41	96					0	0	0	0	C	9318716	T	C	9318716	2	2	385	1	0	0	0	0	0	0	0	1	12951	1567	55	5		5	PZP	12	9318716	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	1759289	9318716	124533179	246	74241											
SLCO1C1	53919	broad.mit.edu	37	chr12	20864365	20864365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaattccactctcagCatctctccgtgtctcctaga	7	13	4	17	1	3	1	1	0	3	1	10	1	7	1	5	0	1	1	5	0	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:20864365C>A	ENST00000381552.1	+	5	818	c.450C>A	c.(448-450)agC>agA	p.S150R	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S32R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S150R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S150R|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S150R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	150					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCACTCTCAGCATCTCTCCGT	0.348													22	114					5.35356e-11	6.28339e-11	1	0	A	20864365	C	A	20864365	3	1	385	1	0	0	0	0	1	0	0	0	14813	709	25	4	464	4	SLCO1C1	12	20864365	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	11545649	20864365	112987530	247	74242											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944888	43944888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatgcatcggcggtcaGgttcagctggaagagctgcc	10	7	15	9	2	2	1	2	0	0	1	3	3	2	3	1	5	4	4	1	5	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:43944888G>T	ENST00000389420.3	-	2	276	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L93M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	93						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCGGCGGTCAGGTTCAGCTGG	0.667													22	20					3.7963e-18	4.95074e-18	1	0	T	43944888	G	T	43944888	3	4	385	1	0	0	0	0	1	0	0	0	266	991	35	4	5606	4	ADAMTS20	12	43944888	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	23080523	43944888	89907007	248	74243											
DDX23	9416	broad.mit.edu	37	chr12	49229995	49229995	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcagccacaccaatgaTgtcacgattctgtagcccaa	12	9	7	13	1	3	1	2	1	2	0	4	2	3	1	3	0	2	1	3	0	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:49229995T>C	ENST00000308025.3	-	11	1370	c.1291A>G	c.(1291-1293)Atc>Gtc	p.I431V		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	431	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACACCAATGATGTCACGATTC	0.507													47	126					0	0	0	0	C	49229995	T	C	49229995	3	2	385	1	0	0	0	0	1	0	0	0	4382	1464	51	5	1199	5	DDX23	12	49229995	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	5285107	49229995	84621900	249	74244											
KRT72	140807	broad.mit.edu	37	chr12	52979944	52979944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgccccagcattggtgCtgctgatgacggctggaatg	6	10	13	12	1	0	2	0	2	0	0	1	3	1	3	3	3	4	4	3	3	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:52979944C>A	ENST00000293745.2	-	9	1443	c.1358G>T	c.(1357-1359)aGc>aTc	p.S453I	KRT72_ENST00000398066.3_Missense_Mutation_p.S265I|KRT72_ENST00000354310.4_Missense_Mutation_p.S411I|KRT72_ENST00000537672.2_Missense_Mutation_p.S453I	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	453	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCATTGGTGCTGCTGATGAC	0.587													17	18					9.16793e-09	1.03255e-08	1	0	A	52979944	C	A	52979944	3	1	385	1	0	0	0	0	1	0	0	0	8537	797	28	4	181	4	KRT72	12	52979944	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3749949	52979944	80871951	250	74245											
OR6C76	390326	broad.mit.edu	37	chr12	55820894	55820894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctatgctgaatccatttaTttacactctaagaaaccagc	13	13	4	11	0	1	2	0	1	1	1	3	2	3	2	3	0	4	1	3	0	6	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:55820894T>C	ENST00000328314.3	+	1	857	c.857T>C	c.(856-858)aTt>aCt	p.I286T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AATCCATTTATTTACACTCTA	0.348													23	20					0	0	0	0	C	55820894	T	C	55820894	3	2	385	1	0	0	0	0	1	0	0	0	11271	1493	52	5	859	5	OR6C76	12	55820894	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	2840950	55820894	78031001	251	74246											
LGR5	8549	broad.mit.edu	37	chr12	71978435	71978435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcacttatgacctgcctcCcagttccgtgccatcaccag	8	10	6	17	1	2	1	2	1	0	0	4	1	4	1	6	0	2	1	6	0	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:71978435C>T	ENST00000266674.5	+	18	2956	c.2645C>T	c.(2644-2646)cCc>cTc	p.P882L	LGR5_ENST00000536515.1_Missense_Mutation_p.P810L|LGR5_ENST00000540815.2_Missense_Mutation_p.P858L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	882						integral to plasma membrane	protein-hormone receptor activity		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						GACCTGCCTCCCAGTTCCGTG	0.448													66	75					0	0	0	0	T	71978435	C	T	71978435	3	4	385	1	0	0	0	0	1	0	0	0	8811	623	22	4	2715	4	LGR5	12	71978435	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	16157541	71978435	61873460	252	74247											
NEDD1	121441	broad.mit.edu	37	chr12	97303599	97303599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaatatgggatgcttcatCtatgacattggtggataaat	14	14	9	4	0	2	1	1	1	1	0	2	3	2	3	0	3	1	1	0	3	6	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:97303599C>G	ENST00000266742.4	+	3	401	c.62C>G	c.(61-63)tCt>tGt	p.S21C	NEDD1_ENST00000557644.1_Missense_Mutation_p.S28C|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000429527.2_Missense_Mutation_p.S21C	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	21					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GATGCTTCATCTATGACATTG	0.348													14	17					0	0	0	0	G	97303599	C	G	97303599	3	3	385	1	0	0	0	0	1	0	0	0	10379	913	32	2	89	2	NEDD1	12	97303599	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	25325164	97303599	36548296	253	74248											
PIWIL1	9271	broad.mit.edu	37	chr12	130847589	130847589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcccagccggatcatcGtgtaccgcgatggcgtagga	9	7	13	12	5	1	0	1	0	0	0	2	3	1	2	3	3	3	2	3	3	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:130847589G>A	ENST00000245255.3	+	18	2367	c.2095G>A	c.(2095-2097)Gtg>Atg	p.V699M		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	699	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCGGATCATCGTGTACCGCGA	0.488													8	44					0	0	0	0	A	130847589	G	A	130847589	3	1	385	1	0	0	0	0	1	0	0	0	12029	1145	40	1	2161	1	PIWIL1	12	130847589	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	33543990	130847589	3004306	254	74249											
IFT88	8100	broad.mit.edu	37	chr13	21212594	21212594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgattatgagaaggccGctgaattctataaagaggct	13	11	12	5	1	1	4	0	3	1	2	1	5	1	4	1	3	0	2	1	3	6	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:21212594G>A	ENST00000382778.4	+	18	2655	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T	IFT88_ENST00000537103.1_Missense_Mutation_p.A485T|IFT88_ENST00000351808.5_Missense_Mutation_p.A504T|IFT88_ENST00000319980.6_Missense_Mutation_p.A513T			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	513					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.A513T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGAGAAGGCCGCTGAATTCTA	0.338													73	52					0	0	0	0	A	21212594	G	A	21212594	3	1	385	1	0	0	0	0	1	0	0	0	7619	1087	38	1	1603	1	IFT88	13	21212594	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08		21212594	93957284	255	74250											
TRPC4	7223	broad.mit.edu	37	chr13	38357101	38357101	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaggtacctgtttttCtccactaggttttttgtggt	4	21	9	7	0	1	0	0	0	1	0	2	0	1	0	2	3	2	4	2	3	2	9			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:38357101C>A	ENST00000379705.3	-	2	1227	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	TRPC4_ENST00000379679.1_Nonsense_Mutation_p.E124*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E124*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E124*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.E124*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.E124*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	124	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACCTGTTTTTCTCCACTAGGT	0.308													42	30					7.05121e-23	9.58793e-23	1	0	A	38357101	C	A	38357101	4	1	385	1	0	0	0	0	0	1	0	0	16675	922	32	2	2618	2	TRPC4	13	38357101	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	17144507	38357101	76812777	256	74251											
LCP1	3936	broad.mit.edu	37	chr13	46721147	46721147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttcaacttggggttccctCggacaacatctgtggctgtg	7	12	12	10	1	2	0	1	0	1	0	4	1	3	1	1	4	2	3	1	4	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:46721147C>T	ENST00000398576.2	-	13	1458	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R357Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	357	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGGGTTCCCTCGGACAACATC	0.547			T	BCL6	NHL								10	86					0	0	0	0	T	46721147	C	T	46721147	3	4	385	1	0	0	0	0	1	0	0	0	8744	884	31	1	841	1	LCP1	13	46721147	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	8364046	46721147	68448731	257	74252											
THSD1	55901	broad.mit.edu	37	chr13	52951683	52951683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtcatagaaggcaaactCagggtgagtggggaagcttt	12	10	14	5	0	2	2	2	1	0	1	2	3	2	3	0	4	2	2	0	4	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:52951683C>G	ENST00000349258.4	-	4	2807	c.2263G>C	c.(2263-2265)Gag>Cag	p.E755Q	THSD1_ENST00000258613.4_Missense_Mutation_p.E808Q|THSD1_ENST00000544466.1_Missense_Mutation_p.E429Q	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	808						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AAGGCAAACTCAGGGTGAGTG	0.488													32	31					0	0	0	0	G	52951683	C	G	52951683	3	3	385	1	0	0	0	0	1	0	0	0	15971	835	29	2	140	2	THSD1	13	52951683	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	6230536	52951683	62218195	258	74253											
DIAPH3	81624	broad.mit.edu	37	chr13	60737866	60737866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccagcggctgagccttggGccgggtggtgcagccgcggc	3	6	18	14	4	0	1	0	1	0	0	1	1	1	1	4	5	4	2	4	5	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:60737866G>A	ENST00000400324.4	-	1	255	c.35C>T	c.(34-36)gCc>gTc	p.A12V	DIAPH3_ENST00000267215.4_Missense_Mutation_p.A12V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A12V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A12V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A12V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.A12V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	12					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGAGCCTTGGGCCGGGTGGTG	0.682													11	8					0	0	0	0	A	60737866	G	A	60737866	3	1	385	1	0	0	0	0	1	0	0	0	4557	1203	42	4	3678	4	DIAPH3	13	60737866	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7786183	60737866	54432012	259	74254											
KLHL1	57626	broad.mit.edu	37	chr13	70314562	70314562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaccaactgtgctccgaGcaattgacatactggctaca	12	9	7	13	1	0	1	0	1	0	0	1	2	1	1	2	1	6	3	2	1	5	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:70314562G>T	ENST00000377844.4	-	8	2525	c.1766C>A	c.(1765-1767)gCt>gAt	p.A589D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A396D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	589					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTGCTCCGAGCAATTGACAT	0.378													22	36					5.35356e-11	6.28339e-11	1	0	T	70314562	G	T	70314562	3	4	385	1	0	0	0	0	1	0	0	0	8417	971	34	4	496	4	KLHL1	13	70314562	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	9576696	70314562	44855316	260	74255											
TBC1D4	9882	broad.mit.edu	37	chr13	75898460	75898460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagtgaaggaaggggcaGagaaggaagtgtgaagactt	14	5	19	3	0	0	4	0	2	0	2	0	7	0	6	0	5	0	2	0	5	5	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:75898460G>A	ENST00000377636.3	-	11	2457	c.2111C>T	c.(2110-2112)tCt>tTt	p.S704F	TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S704F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	704	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAAGGGGCAGAGAAGGAAGT	0.443													27	34					0	0	0	0	A	75898460	G	A	75898460	3	1	385	1	0	0	0	0	1	0	0	0	15716	942	33	2	1829	2	TBC1D4	13	75898460	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	5583898	75898460	39271418	261	74256											
OR4Q3	441669	broad.mit.edu	37	chr14	20216207	20216207	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccaacagtggtctgctGtctcttgtctgcttcttggt	5	16	10	10	0	4	0	0	0	4	0	5	0	4	0	1	2	4	2	1	2	2	4	rs150293428	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:20216207G>C	ENST00000331723.1	+	1	621	c.621G>C	c.(619-621)ctG>ctC	p.L207L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTCTGCTGTCTCTTGTCT	0.488													26	95					0	0	0	0	C	20216207	G	C	20216207	2	2	385	1	0	0	0	0	0	0	0	1	11152	1364	48	4		4	OR4Q3	14	20216207	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08		20216207	87133333	262	74257											
OR11H6	122748	broad.mit.edu	37	chr14	20692620	20692620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtattccctctggtgctgGtcgaactaaagctttctcca	7	15	8	11	1	2	0	0	0	2	0	5	1	3	0	2	2	3	3	2	2	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:20692620G>C	ENST00000315519.2	+	1	830	c.752G>C	c.(751-753)gGt>gCt	p.G251A		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCTGGTGCTGGTCGAACTAAA	0.478													15	12					0	0	0	0	C	20692620	G	C	20692620	3	2	385	1	0	0	0	0	1	0	0	0	11000	1261	44	4	754	4	OR11H6	14	20692620	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	476413	20692620	86656920	263	74258											
MYH7	4625	broad.mit.edu	37	chr14	23887419	23887419	+	Splice_Site	DEL	T	T	-																															tcaggctgctcagaactcacTtggcctcctcgagctcctca																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:23887419delT	ENST00000355349.3	-	30	4331	c.4169_splice	c.e30+1	p.K1392_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1392					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			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)		CAGAACTCACTTGGCCTCCTC	0.617													49	28	---	---	---	---					-	23887419	T	-	23887419	8	5	385	1	0	1	0	1	0	0	1	0	10109	1623	56	0	1682	0	MYH7	14	23887419	Splice_Site	DEL	T	TCGA-DQ-5629-01A-01D-1870-08	3194799	23887419	83462121	264	74259											
NPAS3	64067	broad.mit.edu	37	chr14	34269385	34269385	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcgcgtcgagcccaggCggcctggacgcgggcctggt	4	5	17	15	6	0	0	0	0	0	0	2	2	1	1	4	5	2	0	4	5	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:34269385C>A	ENST00000346562.2	+	11	1850	c.1776C>A	c.(1774-1776)ggC>ggA	p.G592G	NPAS3_ENST00000551492.1_Silent_p.G629G|NPAS3_ENST00000548645.1_Silent_p.G594G|NPAS3_ENST00000357798.5_Silent_p.G611G|NPAS3_ENST00000356141.4_Silent_p.G624G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGAGCCCAGGCGGCCTGGACG	0.672													17	6					3.52763e-06	3.83737e-06	1	0	A	34269385	C	A	34269385	2	1	385	1	0	0	0	0	0	0	0	1	10634	755	27	3		3	NPAS3	14	34269385	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	10381966	34269385	73080155	265	74260											
LRFN5	145581	broad.mit.edu	37	chr14	42356760	42356760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacactgaggtgcaaagccaGgggagaccctgagcctgcaa	13	4	13	11	0	0	3	0	2	0	1	0	4	0	3	3	3	5	2	3	3	3	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:42356760G>T	ENST00000554171.1	+	5	3364	c.932G>T	c.(931-933)aGg>aTg	p.R311M	LRFN5_ENST00000554120.1_Missense_Mutation_p.R311M|LRFN5_ENST00000298119.4_Missense_Mutation_p.R311M			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	311	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCAAAGCCAGGGGAGACCCT	0.468										HNSCC(30;0.082)			42	47					3.09479e-21	4.14497e-21	1	0	T	42356760	G	T	42356760	3	4	385	1	0	0	0	0	1	0	0	0	9005	1000	35	4	934	4	LRFN5	14	42356760	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	8087375	42356760	64992780	266	74261											
FAM179B	23116	broad.mit.edu	37	chr14	45537659	45537659	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaaatctcgacttcatgaTtctaatagtaaagtaaatct	15	16	4	6	1	4	1	1	1	3	0	5	2	4	1	0	0	0	2	0	0	8	8			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:45537659T>A	ENST00000361462.2	+	18	4965	c.4782T>A	c.(4780-4782)gaT>gaA	p.D1594E	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.D1541E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1541							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GACTTCATGATTCTAATAGTA	0.279													9	35					0	0	0	0	A	45537659	T	A	45537659	3	1	385	1	0	0	0	0	1	0	0	0	5547	1490	52	5	4689	5	FAM179B	14	45537659	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	3180899	45537659	61811881	267	74262											
MDGA2	161357	broad.mit.edu	37	chr14	47389219	47389219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttagatttctcacctgcCtgatgcccaaccggtatgca	9	11	8	13	1	1	2	1	1	1	1	2	2	1	2	4	1	4	3	4	1	3	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:47389219C>T	ENST00000426342.1	-	10	2086	c.1340G>A	c.(1339-1341)aGg>aAg	p.R447K	MDGA2_ENST00000399232.2_Missense_Mutation_p.R745K|MDGA2_ENST00000357362.3_Missense_Mutation_p.R447K|MDGA2_ENST00000439988.2_Missense_Mutation_p.R676K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	676	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCACCTGCCTGATGCCCAA	0.413													10	27					0	0	0	0	T	47389219	C	T	47389219	3	4	385	1	0	0	0	0	1	0	0	0	9476	681	24	4	875	4	MDGA2	14	47389219	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1851560	47389219	59960321	268	74263											
SAV1	60485	broad.mit.edu	37	chr14	51132094	51132094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccgttacaaatgactgaGaagaaccatactctctaggg	13	10	8	10	1	1	3	0	2	1	2	3	4	2	3	2	1	3	1	2	1	6	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:51132094G>A	ENST00000324679.4	-	2	701	c.338C>T	c.(337-339)tCt>tTt	p.S113F		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	113					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAATGACTGAGAAGAACCATA	0.388													13	13					0	0	0	0	A	51132094	G	A	51132094	3	1	385	1	0	0	0	0	1	0	0	0	13942	942	33	2	829	2	SAV1	14	51132094	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3742875	51132094	56217446	269	74264											
NID2	22795	broad.mit.edu	37	chr14	52509605	52509605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccgggagcattgtctgtGgttgtgttcacaggtttcct	5	15	13	8	1	2	0	1	0	1	0	3	1	3	1	2	3	2	4	2	3	0	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:52509605G>C	ENST00000216286.5	-	6	1473	c.1474C>G	c.(1474-1476)Cac>Gac	p.H492D	NID2_ENST00000541773.1_Missense_Mutation_p.H439D	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	492	EGF-like 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CATTGTCTGTGGTTGTGTTCA	0.458													30	46					0	0	0	0	C	52509605	G	C	52509605	3	2	385	1	0	0	0	0	1	0	0	0	10485	1348	47	4	2721	4	NID2	14	52509605	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1377511	52509605	54839935	270	74265											
C14orf37	145407	broad.mit.edu	37	chr14	58598275	58598275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgaggcagctgtattaaCacgagtaatagatggaacaa	17	9	10	5	1	0	2	0	1	0	1	0	4	0	3	0	2	3	4	0	2	7	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:58598275C>A	ENST00000267485.7	-	4	1980	c.1786G>T	c.(1786-1788)Gtt>Ttt	p.V596F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	596						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GCTGTATTAACACGAGTAATA	0.478													28	31					2.65835e-16	3.34922e-16	1	0	A	58598275	C	A	58598275	3	1	385	1	0	0	0	0	1	0	0	0	1783	478	17	4	558	4	C14orf37	14	58598275	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	6088670	58598275	48751265	271	74266											
DACT1	51339	broad.mit.edu	37	chr14	59113678	59113678	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcgactctgaagaaagCgggggcttaatttggtccca	11	8	12	10	2	1	2	0	1	1	1	2	3	2	2	2	3	2	1	2	3	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:59113678C>T	ENST00000395153.3	+	4	2373	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	DACT1_ENST00000556859.1_Silent_p.S498S|DACT1_ENST00000335867.4_Silent_p.S779S|DACT1_ENST00000395151.3_Silent_p.S498S|DACT1_ENST00000541264.2_Silent_p.S498S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	779					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGAAGAAAGCGGGGGCTTAA	0.542													25	87					0	0	0	0	T	59113678	C	T	59113678	2	4	385	1	0	0	0	0	0	0	0	1	4255	767	27	1		1	DACT1	14	59113678	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	515403	59113678	48235862	272	74267											
MPP5	64398	broad.mit.edu	37	chr14	67768785	67768785	+	Nonsense_Mutation	SNP	G	G	T																															aaagtattggccagtatggaGgagaaactgtaaaaatagtt																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:67768785G>T	ENST00000261681.4	+	6	1412	c.751G>T	c.(751-753)Gga>Tga	p.G251*	MPP5_ENST00000555925.1_Nonsense_Mutation_p.G217*	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	251					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CCAGTATGGAGGAGAAACTGT	0.413													36	36					4.14481e-20	5.48541e-20	1	0	T	67768785	G	T	67768785	4	4	385	1	0	0	0	0	0	1	0	0	9807	1001	35	4	765	4	MPP5	14	67768785	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	8655107	67768785	39580755	273	74268	1003	2									
MPP5	64398	broad.mit.edu	37	chr14	67768786	67768786	+	Missense_Mutation	SNP	G	G	T																															aagtattggccagtatggagGagaaactgtaaaaatagttc																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:67768786G>T	ENST00000261681.4	+	6	1413	c.752G>T	c.(751-753)gGa>gTa	p.G251V	MPP5_ENST00000555925.1_Missense_Mutation_p.G217V	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	251					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CAGTATGGAGGAGAAACTGTA	0.418													35	36					2.05212e-20	2.72394e-20	1	0	T	67768786	G	T	67768786	3	4	385	1	0	0	0	0	1	0	0	0	9807	1174	41	2	766	2	MPP5	14	67768786	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1	67768786	39580754	274	74269	1003	2									
RDH12	145226	broad.mit.edu	37	chr14	68192857	68192857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggctttgaaacccacctgGgagtcaaccacctgggtaag	11	8	11	11	0	1	1	1	1	0	0	1	2	1	2	4	3	2	2	4	3	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:68192857G>A	ENST00000551171.1	+	6	757	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RDH12_ENST00000539142.1_Missense_Mutation_p.G145R|RDH12_ENST00000267502.3_Missense_Mutation_p.G145R	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	145			G -> E (in retinal dystrophy; exhibits a profound loss of catalytic activity).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AACCCACCTGGGAGTCAACCA	0.433													80	90					0	0	0	0	A	68192857	G	A	68192857	3	1	385	1	0	0	0	0	1	0	0	0	13273	1233	43	4	447	4	RDH12	14	68192857	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	424071	68192857	39156683	275	74270											
COX16	51241	broad.mit.edu	37	chr14	70795900	70795900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acataccgtacctcatattcCgactctaaagatattttatt	13	15	3	10	2	2	1	1	0	1	1	3	2	3	1	3	0	2	1	3	0	7	9			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:70795900C>T	ENST00000389912.6	-	3	338	c.195G>A	c.(193-195)tcG>tcA	p.S65S	COX16_ENST00000557612.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)											large_intestine(1)|lung(2)	3						CCTCATATTCCGACTCTAAAG	0.294													20	26					0	0	0	0	T	70795900	C	T	70795900	2	4	385	1	0	0	0	0	0	0	0	1	3795	639	23	1		1	COX16	14	70795900	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2603043	70795900	36553640	276	74271											
RGS6	9628	broad.mit.edu	37	chr14	72431525	72431525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggatggctcaaggatccgGggatcaaagagcagtggggg	11	5	18	7	1	2	1	2	0	0	1	3	4	3	4	1	7	1	2	1	7	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:72431525G>A	ENST00000553530.1	+	2	224	c.17G>A	c.(16-18)gGg>gAg	p.G6E	RGS6_ENST00000404301.2_Missense_Mutation_p.G6E|RGS6_ENST00000406236.4_Missense_Mutation_p.G6E|RGS6_ENST00000343854.6_Missense_Mutation_p.G6E|RGS6_ENST00000355512.6_Missense_Mutation_p.G6E|RGS6_ENST00000402788.2_Missense_Mutation_p.G6E|RGS6_ENST00000555571.1_Missense_Mutation_p.G6E|RGS6_ENST00000556437.1_Missense_Mutation_p.G6E|RGS6_ENST00000407322.4_Missense_Mutation_p.G6E|RGS6_ENST00000553525.1_Missense_Mutation_p.G6E	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	6					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAGGATCCGGGGATCAAAGA	0.463													27	77					0	0	0	0	A	72431525	G	A	72431525	3	1	385	1	0	0	0	0	1	0	0	0	13392	1232	43	4	19	4	RGS6	14	72431525	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1635625	72431525	34918015	277	74272											
NRXN3	9369	broad.mit.edu	37	chr14	79181346	79181346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgctgcgggtgtcaaGtcctcctgttcacggatgag	8	10	13	10	2	2	2	2	1	0	1	4	3	4	3	2	2	2	2	2	2	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:79181346G>T	ENST00000554719.1	+	5	1280	c.789G>T	c.(787-789)aaG>aaT	p.K263N	NRXN3_ENST00000335750.5_Missense_Mutation_p.K263N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGGTGTCAAGTCCTCCTGTT	0.547													29	21					1.06801e-11	1.27362e-11	1	0	T	79181346	G	T	79181346	3	4	385	1	0	0	0	0	1	0	0	0	10738	1020	36	4	799	4	NRXN3	14	79181346	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	6749821	79181346	28168194	278	74273											
KCNK10	54207	broad.mit.edu	37	chr14	88707125	88707125	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgttggaagagtttcCtattggactgactcccgcat	7	14	11	9	1	0	2	0	1	0	1	2	4	2	4	2	2	0	5	2	2	2	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:88707125C>A	ENST00000340700.5	-	3	878	c.427G>T	c.(427-429)Gga>Tga	p.G143*	KCNK10_ENST00000319231.5_Nonsense_Mutation_p.G148*|KCNK10_ENST00000312350.5_Nonsense_Mutation_p.G148*	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	143					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAAGAGTTTCCTATTGGACTG	0.418													28	87					2.79863e-10	3.27609e-10	1	0	A	88707125	C	A	88707125	4	1	385	1	0	0	0	0	0	1	0	0	8112	690	24	4	1209	4	KCNK10	14	88707125	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	9525779	88707125	18642415	279	74274											
CCDC88C	440193	broad.mit.edu	37	chr14	91739649	91739649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccaggctgaaggcccGgctcaaggaggcactgcggc	8	4	17	12	2	1	2	1	2	0	0	1	3	1	3	2	7	1	3	2	7	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:91739649G>A	ENST00000389857.6	-	30	5493	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	CCDC88C_ENST00000331194.7_Missense_Mutation_p.R327W	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1803				Missing (in Ref. 3; AAH35914).	microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGAAGGCCCGGCTCAAGGAG	0.697													3	7					0	0	0	0	A	91739649	G	A	91739649	3	1	385	1	0	0	0	0	1	0	0	0	2892	1115	39	1	683	1	CCDC88C	14	91739649	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3032524	91739649	15609891	280	74275											
FAM181A	90050	broad.mit.edu	37	chr14	94391643	94391643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaagagagaagatcttCtggagagaggaatgatgcag	15	8	14	4	0	2	6	0	1	2	5	2	10	2	8	0	2	1	1	0	2	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:94391643C>A	ENST00000267594.5	+	2	333	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	FAM181A_ENST00000557719.1_Intron|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	9										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGAAGATCTTCTGGAGAGAGG	0.557													18	45					8.34094e-07	9.1627e-07	1	0	A	94391643	C	A	94391643	3	1	385	1	0	0	0	0	1	0	0	0	5550	913	32	2	28	2	FAM181A	14	94391643	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2651994	94391643	12957897	281	74276											
DLK1	8788	broad.mit.edu	37	chr14	101198399	101198399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttcgggcctgctcctcgGccccctgtgccaacaacagg	6	8	11	16	2	0	0	0	0	0	0	3	0	1	0	5	3	4	2	5	3	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:101198399G>A	ENST00000341267.4	+	4	525	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	DLK1_ENST00000331224.6_Missense_Mutation_p.A95T	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	95	EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CTGCTCCTCGGCCCCCTGTGC	0.597													22	27					0	0	0	0	A	101198399	G	A	101198399	3	1	385	1	0	0	0	0	1	0	0	0	4601	1203	42	4	297	4	DLK1	14	101198399	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	6806756	101198399	6151141	282	74277											
CDCA4	55038	broad.mit.edu	37	chr14	105477874	105477874	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgtgctgaggtgacTgggcaaaggtcagaaactgg	9	8	17	7	0	1	3	1	2	0	1	1	3	1	3	1	5	3	2	1	5	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:105477874T>A	ENST00000336219.3	-	2	548	c.393A>T	c.(391-393)ccA>ccT	p.P131P	CDCA4_ENST00000392590.3_Silent_p.P131P	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	131						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CTGAGGTGACTGGGCAAAGGT	0.607													20	44					0	0	0	0	A	105477874	T	A	105477874	2	1	385	1	0	0	0	0	0	0	0	1	3117	1567	55	5		5	CDCA4	14	105477874	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	4279475	105477874	1871666	283	74278											
MAGEL2	54551	broad.mit.edu	37	chr15	23890312	23890312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagttgcctggggggcagCtgctgtagccatcaggaagg	7	7	18	9	0	1	0	1	0	0	0	1	1	1	1	2	6	4	6	2	6	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:23890312C>A	ENST00000532292.1	-	1	863	c.769G>T	c.(769-771)Gct>Tct	p.A257S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGGGGCAGCTGCTGTAGCC	0.627													17	53					1.02788e-11	1.23236e-11	1	0	A	23890312	C	A	23890312	3	1	385	1	0	0	0	0	1	0	0	0	9258	797	28	4	1175	4	MAGEL2	15	23890312	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		23890312	78641080	284	74279											
GABRA5	2558	broad.mit.edu	37	chr15	27159966	27159966	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttgaccatctctgcaGagtgccccatgcagcttgag	8	10	10	13	0	2	3	1	2	1	1	3	3	2	3	3	0	5	4	3	0	0	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:27159966G>T	ENST00000335625.5	+	7	1402	c.514G>T	c.(514-516)Gag>Tag	p.E172*	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Nonsense_Mutation_p.E172*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.E172*|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	172					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATCTCTGCAGAGTGCCCCAT	0.478													7	41					0.000157383	0.00016516	1	0	T	27159966	G	T	27159966	4	4	385	1	0	0	0	0	0	1	0	0	6212	943	33	2	532	2	GABRA5	15	27159966	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3269654	27159966	75371426	285	74280											
OCA2	4948	broad.mit.edu	37	chr15	28090152	28090152	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tatccatgctgttctgcaatCcctgcacacacgacgtttgc	8	12	7	14	2	1	0	0	0	1	0	3	1	3	0	2	0	4	5	2	0	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:28090152C>G	ENST00000354638.3	-	23	2540	c.2385G>C	c.(2383-2385)ggG>ggC	p.G795G	OCA2_ENST00000353809.5_Silent_p.G771G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	795			G -> R (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTTCTGCAATCCCTGCACACA	0.403									Oculocutaneous Albinism				10	60					0	0	0	0	G	28090152	C	G	28090152	2	3	385	1	0	0	0	0	0	0	0	1	10886	842	30	2		2	OCA2	15	28090152	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	930186	28090152	74441240	286	74281											
SLC24A5	283652	broad.mit.edu	37	chr15	48434324	48434324	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaactgcatttataaatGgatcagctcctgcagaagta	15	12	7	7	0	1	1	1	0	0	1	2	2	2	2	1	1	4	4	1	1	7	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:48434324G>T	ENST00000341459.3	+	9	1352	c.1279G>T	c.(1279-1281)Gga>Tga	p.G427*	MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Nonsense_Mutation_p.G367*	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	427					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		ATTTATAAATGGATCAGCTCC	0.363													53	62					5.13769e-22	6.94366e-22	1	0	T	48434324	G	T	48434324	4	4	385	1	0	0	0	0	0	1	0	0	14557	1349	47	4	1313	4	SLC24A5	15	48434324	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	20344172	48434324	54097068	287	74282											
FBN1	2200	broad.mit.edu	37	chr15	48776017	48776017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtcttctttgcttacctAcacaagtcttcatgtcttca	7	18	4	12	0	7	0	2	0	5	0	7	0	7	0	1	0	3	1	1	0	3	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:48776017A>G	ENST00000316623.5	-	31	4291	c.3836T>C	c.(3835-3837)gTa>gCa	p.V1279A		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1279	EGF-like 20; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGCTTACCTACACAAGTCTT	0.383													14	45					0	0	0	0	G	48776017	A	G	48776017	3	3	385	1	0	0	0	0	1	0	0	0	5747	391	14	5	4923	5	FBN1	15	48776017	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	341693	48776017	53755375	288	74283											
VPS13C	54832	broad.mit.edu	37	chr15	62182498	62182498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgctttggaaaccaaGgcaacatcatcggtgaaaag	14	8	11	8	1	1	1	1	1	0	0	2	2	1	2	1	3	4	3	1	3	5	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:62182498G>A	ENST00000261517.5	-	67	9280	c.9207C>T	c.(9205-9207)gcC>gcT	p.A3069A	VPS13C_ENST00000249837.3_Silent_p.A3026A|VPS13C_ENST00000395898.3_Silent_p.A3026A|VPS13C_ENST00000395896.4_Silent_p.A3069A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3069					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGGAAACCAAGGCAACATCAT	0.438													10	55					0	0	0	0	A	62182498	G	A	62182498	2	1	385	1	0	0	0	0	0	0	0	1	17287	987	35	4		4	VPS13C	15	62182498	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	13406481	62182498	40348894	289	74284											
DENND4A	10260	broad.mit.edu	37	chr15	65968863	65968863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtagcactggtctcttgaGaggagataggtccttccaac	11	10	11	9	0	1	2	0	1	1	2	4	4	3	2	2	3	2	2	2	3	4	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:65968863G>A	ENST00000443035.3	-	24	4501	c.4286C>T	c.(4285-4287)tCt>tTt	p.S1429F	DENND4A_ENST00000431932.2_Missense_Mutation_p.S1386F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGTCTCTTGAGAGGAGATAGG	0.458													20	13					0	0	0	0	A	65968863	G	A	65968863	3	1	385	1	0	0	0	0	1	0	0	0	4470	942	33	2	1474	2	DENND4A	15	65968863	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3786365	65968863	36562529	290	74285											
KIAA1199	57214	broad.mit.edu	37	chr15	81241181	81241181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggcagcttccggcccatCtgggtgacactggacactga	10	7	12	12	1	1	2	0	2	1	0	2	3	2	3	2	4	1	2	2	4	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:81241181C>G	ENST00000394685.3	+	30	4421	c.4002C>G	c.(4000-4002)atC>atG	p.I1334M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.I1334M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.I1334M|RP11-351M8.2_ENST00000560873.1_RNA|MESDC2_ENST00000560244.1_5'UTR			Q8WUJ3	K1199_HUMAN	KIAA1199	1334										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCGGCCCATCTGGGTGACAC	0.532													44	118					0	0	0	0	G	81241181	C	G	81241181	3	3	385	1	0	0	0	0	1	0	0	0	8264	903	32	2	4112	2	KIAA1199	15	81241181	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	15272318	81241181	21290211	291	74286											
NTRK3	4916	broad.mit.edu	37	chr15	88420304	88420304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtacacctctttggggcaGactcggggccgctccaaaac	8	8	11	14	3	1	1	0	0	1	1	4	1	2	1	3	4	2	3	3	4	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:88420304G>A	ENST00000394480.1	-	19	2661	c.2340C>T	c.(2338-2340)gtC>gtT	p.V780V	NTRK3_ENST00000360948.2_Silent_p.V794V|NTRK3_ENST00000355254.2_Silent_p.V780V|NTRK3_ENST00000357724.2_Silent_p.V786V|NTRK3_ENST00000557856.1_Silent_p.V772V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	794	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTTGGGGCAGACTCGGGGCC	0.522			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			7	42					0	0	0	0	A	88420304	G	A	88420304	2	1	385	1	0	0	0	0	0	0	0	1	10779	929	33	2		2	NTRK3	15	88420304	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7179123	88420304	14111088	292	74287											
ACAN	176	broad.mit.edu	37	chr15	89382097	89382097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctggtggccactgaaGggcgcgtgcgggtcaacagt	6	8	17	10	3	1	1	1	1	0	0	1	1	1	1	1	4	4	2	1	4	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:89382097G>T	ENST00000439576.2	+	3	648	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	ACAN_ENST00000558207.1_Missense_Mutation_p.G92W|ACAN_ENST00000352105.7_Missense_Mutation_p.G92W|ACAN_ENST00000559004.1_Missense_Mutation_p.G92W|ACAN_ENST00000561243.1_Missense_Mutation_p.G92W	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	92					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCACTGAAGGGCGCGTGCG	0.632													7	86					1.06961e-07	1.19262e-07	1	0	T	89382097	G	T	89382097	3	4	385	1	0	0	0	0	1	0	0	0	117	1000	35	4	280	4	ACAN	15	89382097	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	961793	89382097	13149295	293	74288											
FANCI	55215	broad.mit.edu	37	chr15	89804006	89804006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatacacttgttgtatcCagttggtggaatcgggggat	10	13	13	5	1	0	1	0	0	0	1	2	3	1	3	1	4	1	3	1	4	4	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:89804006C>G	ENST00000310775.7	+	4	306	c.220C>G	c.(220-222)Cag>Gag	p.Q74E	FANCI_ENST00000300027.8_Missense_Mutation_p.Q74E|FANCI_ENST00000567996.1_Missense_Mutation_p.Q74E|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	74					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGTTGTATCCAGTTGGTGGA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	83					0	0	0	0	G	89804006	C	G	89804006	3	3	385	1	0	0	0	0	1	0	0	0	5714	595	21	4	230	4	FANCI	15	89804006	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	421909	89804006	12727386	294	74289											
RHCG	51458	broad.mit.edu	37	chr15	90020344	90020344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccatcagggccatggcCagggtcaccaagagaccata	12	4	10	15	0	2	1	2	0	0	1	2	2	2	1	6	3	0	0	6	3	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:90020344C>T	ENST00000268122.4	-	8	1274	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	RHCG_ENST00000544600.1_Silent_p.L402L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	402					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GGGCCATGGCCAGGGTCACCA	0.567													27	88					0	0	0	0	T	90020344	C	T	90020344	2	4	385	1	0	0	0	0	0	0	0	1	13409	581	21	4		4	RHCG	15	90020344	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	216338	90020344	12511048	295	74290											
PEX11A	8800	broad.mit.edu	37	chr15	90229763	90229763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatctaagcaacatgcatGtgtactgagtggctctgaaa	14	11	9	7	0	2	2	0	2	2	0	2	2	2	2	0	1	4	4	0	1	6	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:90229763G>A	ENST00000300056.3	-	2	220	c.71C>T	c.(70-72)aCa>aTa	p.T24I	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.T24I|PEX11A_ENST00000561224.1_Missense_Mutation_p.T24I|PEX11A_ENST00000559170.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	24					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CAACATGCATGTGTACTGAGT	0.378													55	48					0	0	0	0	A	90229763	G	A	90229763	3	1	385	1	0	0	0	0	1	0	0	0	11809	1377	48	4	680	4	PEX11A	15	90229763	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	209419	90229763	12301629	296	74291											
VPS33B	26276	broad.mit.edu	37	chr15	91546342	91546342	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tactgtgttttcagagatcgGtaatccttggggatcaaacc	10	13	10	8	1	2	1	2	0	0	1	4	3	3	2	2	3	2	2	2	3	3	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:91546342G>T	ENST00000333371.3	-	17	1598	c.1245C>A	c.(1243-1245)taC>taA	p.Y415*	VPS33B_ENST00000535906.1_Nonsense_Mutation_p.Y388*|VPS33B_ENST00000535843.1_Nonsense_Mutation_p.Y324*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	415					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCAGAGATCGGTAATCCTTGG	0.458													73	60					6.86016e-32	9.71312e-32	1	0	T	91546342	G	T	91546342	4	4	385	1	0	0	0	0	0	1	0	0	17298	1256	44	4	636	4	VPS33B	15	91546342	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1316579	91546342	10985050	297	74292											
C16orf71	146562	broad.mit.edu	37	chr16	4797521	4797521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctctgtgccaaggggcaGagcgcccaggctcgactccc	8	5	13	15	2	1	1	0	0	1	1	3	2	2	1	3	3	3	3	3	3	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:4797521G>C	ENST00000299320.5	+	9	1936	c.1458G>C	c.(1456-1458)caG>caC	p.Q486H	C16orf71_ENST00000590191.1_Missense_Mutation_p.Q503H|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	486										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCAAGGGGCAGAGCGCCCAGG	0.667													13	15					0	0	0	0	C	4797521	G	C	4797521	3	2	385	1	0	0	0	0	1	0	0	0	1843	933	33	2	1488	2	C16orf71	16	4797521	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08		4797521	85557232	298	74293											
RSL1D1	26156	broad.mit.edu	37	chr16	11935671	11935671	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacaggagtttcacgctctCccacttctgaaacaaagaaa	16	8	6	11	1	3	2	1	1	2	1	4	3	3	3	1	1	2	2	1	1	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:11935671C>A	ENST00000571133.1	-	7	808	c.736G>T	c.(736-738)Gag>Tag	p.E246*	RSL1D1_ENST00000542106.1_Nonsense_Mutation_p.E26*	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	246					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTCACGCTCTCCCACTTCTGA	0.393													17	24					9.16793e-09	1.03255e-08	1	0	A	11935671	C	A	11935671	4	1	385	1	0	0	0	0	0	1	0	0	13785	864	30	2	748	2	RSL1D1	16	11935671	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	7138150	11935671	78419082	299	74294											
ABCC1	4363	broad.mit.edu	37	chr16	16177363	16177363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcccagacctggaaatCctgcccagtggggatcggac	8	7	11	15	1	0	1	0	0	0	1	4	4	3	4	5	4	1	0	5	4	1	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:16177363C>T	ENST00000399408.2	+	17	2431	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	ABCC1_ENST00000346370.5_Silent_p.I752I|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000345148.5_Silent_p.I752I|ABCC1_ENST00000399410.3_Silent_p.I752I|ABCC1_ENST00000351154.5_Intron			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	752	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACCTGGAAATCCTGCCCAGTG	0.517													11	60					0	0	0	0	T	16177363	C	T	16177363	2	4	385	1	0	0	0	0	0	0	0	1	49	845	30	2		2	ABCC1	16	16177363	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	4241692	16177363	74177390	300	74295											
ACSM5	54988	broad.mit.edu	37	chr16	20451218	20451218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatgtgaaaagggtgactGctccatacaaataccccagg	14	7	10	10	0	0	2	0	2	0	0	1	2	1	2	3	2	4	2	3	2	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:20451218G>A	ENST00000331849.4	+	13	1780	c.1633G>A	c.(1633-1635)Gct>Act	p.A545T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	545					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAGGGTGACTGCTCCATACAA	0.537													21	56					0	0	0	0	A	20451218	G	A	20451218	3	1	385	1	0	0	0	0	1	0	0	0	187	1319	46	4	1679	4	ACSM5	16	20451218	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4273855	20451218	69903535	301	74296											
KIAA0556	23247	broad.mit.edu	37	chr16	27752188	27752188	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctagtgggaggaggggctCaaggaaggatgctggcagca	10	6	19	6	0	1	0	1	0	0	0	1	4	1	4	0	7	3	5	0	7	3	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:27752188C>G	ENST00000261588.4	+	15	2589	c.2570C>G	c.(2569-2571)tCa>tGa	p.S857*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	857										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGAGGGGCTCAAGGAAGGAT	0.597													9	14					0	0	0	0	G	27752188	C	G	27752188	4	3	385	1	0	0	0	0	0	1	0	0	8234	838	29	2	2628	2	KIAA0556	16	27752188	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	7300970	27752188	62602565	302	74297											
NFATC2IP	84901	broad.mit.edu	37	chr16	28967303	28967303	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcttgcttctacagggatCtggacaactctcctctgtcc	6	14	7	14	0	5	0	0	0	5	0	8	2	6	2	2	2	3	1	2	2	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:28967303C>G	ENST00000320805.4	+	4	658	c.583C>G	c.(583-585)Ctg>Gtg	p.L195V	NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	195						cytoplasm|nucleus		p.L195M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CTACAGGGATCTGGACAACTC	0.527													20	55					0	0	0	0	G	28967303	C	G	28967303	3	3	385	1	0	0	0	0	1	0	0	0	10433	912	32	2	597	2	NFATC2IP	16	28967303	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1215115	28967303	61387450	303	74298											
ZNF629	23361	broad.mit.edu	37	chr16	30793202	30793202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgggggtaggggtctcgCcctcaccttcctgatctgtg	3	12	14	12	1	3	1	1	1	2	0	5	1	4	1	3	4	0	1	3	4	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:30793202C>A	ENST00000262525.4	-	3	2654	c.2447G>T	c.(2446-2448)gGc>gTc	p.G816V		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGGTCTCGCCCTCACCTTC	0.612													68	72					6.25564e-26	8.66465e-26	1	0	A	30793202	C	A	30793202	3	1	385	1	0	0	0	0	1	0	0	0	18148	739	26	4	166	4	ZNF629	16	30793202	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1825899	30793202	59561551	304	74299											
ZNF668	79759	broad.mit.edu	37	chr16	31072519	31072519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaagaaggccttgggaCaatgggggcaggtgtagggg	10	6	18	7	0	1	1	1	0	0	1	1	2	1	2	1	7	0	2	1	7	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:31072519C>A	ENST00000538906.1	-	3	2514	c.1730G>T	c.(1729-1731)tGt>tTt	p.C577F	ZNF668_ENST00000394983.2_Missense_Mutation_p.C577F|ZNF668_ENST00000539836.3_Missense_Mutation_p.C600F|ZNF668_ENST00000426488.2_Missense_Mutation_p.C600F|ZNF668_ENST00000300849.4_Missense_Mutation_p.C577F|ZNF668_ENST00000535577.1_Missense_Mutation_p.C577F	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCCTTGGGACAATGGGGGCA	0.652													14	60					1.33834e-09	1.53051e-09	1	0	A	31072519	C	A	31072519	3	1	385	1	0	0	0	0	1	0	0	0	18170	478	17	4	133	4	ZNF668	16	31072519	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	279317	31072519	59282234	305	74300											
MYLK3	91807	broad.mit.edu	37	chr16	46771856	46771856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggccagtcctgaggttCtcgctgggtgtctcaggagc	5	10	14	12	1	2	1	1	1	2	0	6	2	4	2	3	4	1	2	3	4	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:46771856C>T	ENST00000394809.4	-	3	883	c.768G>A	c.(766-768)gaG>gaA	p.E256E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	256					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCTGAGGTTCTCGCTGGGTG	0.647													23	17					0	0	0	0	T	46771856	C	T	46771856	2	4	385	1	0	0	0	0	0	0	0	1	10128	912	32	2		2	MYLK3	16	46771856	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	15699337	46771856	43582897	306	74301											
SLC6A2	6530	broad.mit.edu	37	chr16	55690666	55690666	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacggggcggacacgggTccagagcagccccttcgggc	9	3	15	14	4	0	1	0	0	0	1	2	2	1	2	3	5	4	1	3	5	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:55690666T>G	ENST00000379906.2	+	1	315	c.60T>G	c.(58-60)ggT>ggG	p.G20G	SLC6A2_ENST00000414754.3_Silent_p.G20G|SLC6A2_ENST00000566163.1_Silent_p.G20G|SLC6A2_ENST00000568943.1_Silent_p.G20G|SLC6A2_ENST00000561820.1_Silent_p.G20G|SLC6A2_ENST00000219833.8_Silent_p.G20G	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	20					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGGACACGGGTCCAGAGCAGC	0.697													6	30					0	0	0	0	G	55690666	T	G	55690666	2	3	385	1	0	0	0	0	0	0	0	1	14771	1654	58	5		5	SLC6A2	16	55690666	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	8918810	55690666	34664087	307	74302											
CNOT1	23019	broad.mit.edu	37	chr16	58594184	58594184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttggcataactccaggtgGtggttgtctggccttattca	6	16	11	8	0	2	0	1	0	1	0	3	0	3	0	2	5	1	2	2	5	2	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:58594184G>A	ENST00000317147.5	-	17	2394	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S	CNOT1_ENST00000441024.2_Missense_Mutation_p.P688S|CNOT1_ENST00000569240.1_Missense_Mutation_p.P688S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	688					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACTCCAGGTGGTGGTTGTCTG	0.428													29	43					0	0	0	0	A	58594184	G	A	58594184	3	1	385	1	0	0	0	0	1	0	0	0	3647	1261	44	4	5422	4	CNOT1	16	58594184	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2903518	58594184	31760569	308	74303											
CNOT1	23019	broad.mit.edu	37	chr16	58610398	58610398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccacatcaagtattcgaGacaatttggcctgatcatac	12	10	9	10	1	2	2	2	1	0	1	3	3	2	2	2	2	1	1	2	2	4	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:58610398G>A	ENST00000317147.5	-	14	2005	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	CNOT1_ENST00000441024.2_Missense_Mutation_p.S558F|CNOT1_ENST00000569240.1_Missense_Mutation_p.S558F	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	558					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGTATTCGAGACAATTTGGC	0.483													7	39					0	0	0	0	A	58610398	G	A	58610398	3	1	385	1	0	0	0	0	1	0	0	0	3647	942	33	2	5823	2	CNOT1	16	58610398	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	16214	58610398	31744355	309	74304											
HYDIN	54768	broad.mit.edu	37	chr16	70843905	70843905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaaattcaaatgagaaCgtgccctggaagagaaaaca	17	6	11	7	1	1	3	1	2	0	2	1	6	1	4	1	2	3	1	1	2	6	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:70843905C>T	ENST00000393567.2	-	85	14814	c.14664G>A	c.(14662-14664)acG>acA	p.T4888T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4888										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAATGAGAACGTGCCCTGGA	0.488													46	175					0	0	0	0	T	70843905	C	T	70843905	2	4	385	1	0	0	0	0	0	0	0	1	7520	523	19	1		1	HYDIN	16	70843905	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	12233507	70843905	19510848	310	74305											
BCAR1	9564	broad.mit.edu	37	chr16	75276935	75276935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcacccttgcggaaggaGagctcatccggggactcggc	8	7	14	12	3	2	1	2	0	0	1	4	4	3	3	2	5	2	1	2	5	1	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:75276935G>A	ENST00000418647.3	-	3	487	c.204C>T	c.(202-204)ctC>ctT	p.L68L	BCAR1_ENST00000393420.6_Silent_p.L22L|BCAR1_ENST00000542031.2_Silent_p.L20L|BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000538440.2_Silent_p.L22L|BCAR1_ENST00000535626.2_Silent_p.L22L|BCAR1_ENST00000162330.5_Silent_p.L22L|BCAR1_ENST00000420641.3_Silent_p.L40L|BCAR1_ENST00000393422.2_Silent_p.L40L	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	22					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCGGAAGGAGAGCTCATCCG	0.627													14	12					0	0	0	0	A	75276935	G	A	75276935	2	1	385	1	0	0	0	0	0	0	0	1	1352	929	33	2		2	BCAR1	16	75276935	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4433030	75276935	15077818	311	74306											
ZC3H18	124245	broad.mit.edu	37	chr16	88696916	88696916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggaccggaagtcaggtGggagactgggctccccgaag	8	5	17	11	3	1	1	1	0	0	1	3	5	2	3	3	5	0	1	3	5	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:88696916G>C	ENST00000301011.5	+	17	2790	c.2590G>C	c.(2590-2592)Ggg>Cgg	p.G864R	ZC3H18_ENST00000452588.2_Missense_Mutation_p.G888R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	864						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAAGTCAGGTGGGAGACTGGG	0.637													8	24					0	0	0	0	C	88696916	G	C	88696916	3	2	385	1	0	0	0	0	1	0	0	0	17663	1348	47	4	2652	4	ZC3H18	16	88696916	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	13419981	88696916	1657837	312	74307											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617		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)			25	15					7.88262e-20	1.04013e-19	1	0	A	7578461	C	A	7578461	3	1	385	1	0	0	0	0	1	0	0	0	16476	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		7578461	73616749	313	74308											
MYH10	4628	broad.mit.edu	37	chr17	8396258	8396258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggctcagggcctccgCgtccttcagaagcttcttct	4	11	11	15	3	4	1	2	0	2	1	6	1	6	1	3	2	1	3	3	2	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:8396258C>T	ENST00000360416.3	-	33	4432	c.4294G>A	c.(4294-4296)Gcg>Acg	p.A1432T	MYH10_ENST00000396239.1_Missense_Mutation_p.A1422T|MYH10_ENST00000269243.4_Missense_Mutation_p.A1401T|MYH10_ENST00000379980.4_Missense_Mutation_p.A1417T	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1401					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGGGCCTCCGCGTCCTTCAGA	0.537													39	22					0	0	0	0	T	8396258	C	T	8396258	3	4	385	1	0	0	0	0	1	0	0	0	10100	768	27	1	1773	1	MYH10	17	8396258	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	817797	8396258	72798952	314	74309											
MYH4	4622	broad.mit.edu	37	chr17	10358338	10358338	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcgcgtgatgagttgagcTagcttttcatctcgcatttc	6	15	11	9	3	2	3	1	3	1	0	4	3	2	3	0	0	3	4	0	0	1	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:10358338T>C	ENST00000255381.2	-	21	2465	c.2355A>G	c.(2353-2355)ctA>ctG	p.L785L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	785	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGTTGAGCTAGCTTTTCAT	0.448													14	39					0	0	0	0	C	10358338	T	C	10358338	2	2	385	1	0	0	0	0	0	0	0	1	10107	1509	53	5		5	MYH4	17	10358338	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	1962080	10358338	70836872	315	74310											
MPRIP	23164	broad.mit.edu	37	chr17	17077275	17077275	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactggaggtcctctcggaGcagtactcgcagaagtgcct	9	8	13	11	2	1	1	0	0	1	1	4	4	2	3	2	3	4	3	2	3	3	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:17077275G>A	ENST00000395811.5	+	18	2564	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	MPRIP_ENST00000444976.1_Silent_p.E787E|MPRIP_ENST00000395804.3_Silent_p.E825E|MPRIP_ENST00000341712.4_Silent_p.E825E|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	825	Interaction with PPP1R12A.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCCTCTCGGAGCAGTACTCGC	0.657													8	21					0	0	0	0	A	17077275	G	A	17077275	2	1	385	1	0	0	0	0	0	0	0	1	9813	962	34	4		4	MPRIP	17	17077275	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	6718937	17077275	64117935	316	74311											
NOS2	4843	broad.mit.edu	37	chr17	26108077	26108077	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtacctgagtgaattccacGttggcagggtcccctctgat	7	11	12	11	1	1	3	0	3	1	0	3	3	3	3	4	3	1	3	4	3	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:26108077G>A	ENST00000313735.6	-	8	1082	c.849C>T	c.(847-849)aaC>aaT	p.N283N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	283					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGAATTCCACGTTGGCAGGGT	0.632													25	61					0	0	0	0	A	26108077	G	A	26108077	2	1	385	1	0	0	0	0	0	0	0	1	10613	1136	40	1		1	NOS2	17	26108077	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	9030802	26108077	55087133	317	74312											
MYO18A	399687	broad.mit.edu	37	chr17	27409400	27409400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgttttttgacaaccagGacttgaccccgtcaacacgg	9	11	8	13	2	1	2	1	2	0	0	1	3	1	3	4	2	2	1	4	2	2	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:27409400G>T	ENST00000527372.1	-	41	6134	c.5954C>A	c.(5953-5955)tCc>tAc	p.S1985Y	MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.S1985Y|MYO18A_ENST00000533112.1_Missense_Mutation_p.S1933Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S1970Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1985					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGACAACCAGGACTTGACCCC	0.532													21	50					8.04996e-18	1.04066e-17	1	0	T	27409400	G	T	27409400	3	4	385	1	0	0	0	0	1	0	0	0	10135	1174	41	2	218	2	MYO18A	17	27409400	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	1301323	27409400	53785810	318	74313											
LRRC37B	114659	broad.mit.edu	37	chr17	30358450	30358450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggaacatttcaggcctGgcacggaatgcagtttttac	9	12	10	10	1	1	0	1	0	0	0	1	2	1	2	2	4	3	3	2	4	3	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:30358450G>T	ENST00000327564.7	+	5	2091	c.2030G>T	c.(2029-2031)tGg>tTg	p.W677L	LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000543378.2_Missense_Mutation_p.W568L|LRRC37B_ENST00000341671.7_Missense_Mutation_p.W650L|LRRC37B_ENST00000394713.3_Intron			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	650						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTCAGGCCTGGCACGGAATG	0.328													11	95					0.000219431	0.000229733	1	0	T	30358450	G	T	30358450	3	4	385	1	0	0	0	0	1	0	0	0	9058	1357	47	4	1967	4	LRRC37B	17	30358450	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2949050	30358450	50836760	319	74314											
SPOP	8405	broad.mit.edu	37	chr17	47696729	47696729	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcatctaaccctttGgggtttactcgcaaacacct	8	15	5	13	1	3	0	1	0	2	0	4	0	3	0	2	2	3	2	2	2	3	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:47696729G>C	ENST00000393331.3	-	6	689	c.219C>G	c.(217-219)ccC>ccG	p.P73P	SPOP_ENST00000347630.2_Silent_p.P73P|SPOP_ENST00000393328.2_Silent_p.P73P|SPOP_ENST00000504102.1_Silent_p.P73P|SPOP_ENST00000503676.1_Silent_p.P73P|SPOP_ENST00000513080.1_5'UTR	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	73	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTAACCCTTTGGGGTTTACTC	0.398										Prostate(2;0.17)			15	27					0	0	0	0	C	47696729	G	C	47696729	2	2	385	1	0	0	0	0	0	0	0	1	15174	1335	47	4		4	SPOP	17	47696729	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	17338279	47696729	33498481	320	74315											
KIF2B	84643	broad.mit.edu	37	chr17	51902367	51902367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaccgagatccaaaagaAactgaaattattactagctg	16	10	7	8	1	1	4	0	2	1	2	2	5	2	4	2	0	3	1	2	0	7	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:51902367A>T	ENST00000268919.4	+	1	2129	c.1973A>T	c.(1972-1974)aAa>aTa	p.K658I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	658					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCCAAAAGAAACTGAAATTA	0.458													30	47					0	0	0	0	T	51902367	A	T	51902367	3	4	385	1	0	0	0	0	1	0	0	0	8349	14	1	5	1975	5	KIF2B	17	51902367	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	4205638	51902367	29292843	321	74316											
TBC1D16	125058	broad.mit.edu	37	chr17	77921571	77921571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgggcgccaccaggtccGacatcccttgggaatagccg	9	6	13	13	3	0	1	0	0	0	1	2	3	2	2	5	3	1	0	5	3	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:77921571G>A	ENST00000310924.2	-	9	1716	c.1601C>T	c.(1600-1602)tCg>tTg	p.S534L	TBC1D16_ENST00000570373.1_Missense_Mutation_p.S173L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.S172L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.S159L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.S172L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	534	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CACCAGGTCCGACATCCCTTG	0.602													44	10					0	0	0	0	A	77921571	G	A	77921571	3	1	385	1	0	0	0	0	1	0	0	0	15696	1059	37	1	718	1	TBC1D16	17	77921571	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	26019204	77921571	3273639	322	74317											
ZNF750	79755	broad.mit.edu	37	chr17	80789871	80789872	+	Frame_Shift_Ins	INS	-	-	T																															gaaggccgagctgcgccttcINScagagcaggctgggcaccga																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:80789871_80789872insT	ENST00000269394.3	-	2	1292_1293	c.459_460insA	c.(457-462)ctaaggfs	p.R154fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	154						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGCGCCTTCCAGAGCAGGCT	0.658													36	15	---	---	---	---					T	80789872	-	T	80789871	7	5	385	1	0	1	1	0	0	0	0	0	18226	864	30	0	1719	0	ZNF750	17	80789871	Frame_Shift_Ins	INS	-	TCGA-DQ-5629-01A-01D-1870-08	2868300	80789871	405339	323	74318											
IMPA2	3613	broad.mit.edu	37	chr18	11999122	11999122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgcagatcttgtgacaGaaacagatcaccttgtggaa	13	9	10	9	0	2	4	1	1	1	3	2	5	2	5	1	1	3	2	1	1	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:11999122G>A	ENST00000269159.3	+	2	408	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	56					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TCTTGTGACAGAAACAGATCA	0.423													18	50					0	0	0	0	A	11999122	G	A	11999122	3	1	385	1	0	0	0	0	1	0	0	0	7776	943	33	2	172	2	IMPA2	18	11999122	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08		11999122	66078126	324	74319											
SLC39A6	25800	broad.mit.edu	37	chr18	33689681	33689681	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggctacatccatggtcacTagcatcattgtgcagcattt	9	12	9	11	1	2	0	2	0	0	0	3	0	3	0	1	2	4	4	1	2	2	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:33689681T>A	ENST00000269187.5	-	10	2356	c.2143A>T	c.(2143-2145)Agt>Tgt	p.S715C	SLC39A6_ENST00000590986.1_Missense_Mutation_p.S715C	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	715						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CCATGGTCACTAGCATCATTG	0.328													33	69					0	0	0	0	A	33689681	T	A	33689681	3	1	385	1	0	0	0	0	1	0	0	0	14710	1522	53	5	128	5	SLC39A6	18	33689681	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	21690559	33689681	44387567	325	74320											
DCC	1630	broad.mit.edu	37	chr18	50731677	50731677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaccccctgcctatgcaaaCggtccagtccaaggttacag	11	7	9	14	1	0	0	0	0	0	0	2	1	2	0	5	2	5	2	5	2	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:50731677C>A	ENST00000442544.2	+	10	2281	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K	DCC_ENST00000412726.1_Missense_Mutation_p.N403K|DCC_ENST00000581580.1_Missense_Mutation_p.N210K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	555	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTATGCAAACGGTCCAGTCC	0.478													47	102					1.32667e-27	1.86068e-27	1	0	A	50731677	C	A	50731677	3	1	385	1	0	0	0	0	1	0	0	0	4314	535	19	3	1703	3	DCC	18	50731677	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	17041996	50731677	27345571	326	74321											
HMHA1	23526	broad.mit.edu	37	chr19	1080350	1080350	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagaaggcgggtgcacTgagggcacacctgccaagga	12	3	15	11	1	0	3	0	1	0	2	0	4	0	4	3	4	2	2	3	4	3	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:1080350T>A	ENST00000313093.2	+	14	2031	c.1800T>A	c.(1798-1800)acT>acA	p.T600T	HMHA1_ENST00000586866.1_Silent_p.T604T|HMHA1_ENST00000543365.1_Silent_p.T483T|HMHA1_ENST00000590577.1_Silent_p.T235T|HMHA1_ENST00000539243.2_Silent_p.T616T|HMHA1_ENST00000536472.1_Silent_p.T440T|HMHA1_ENST00000590214.1_Silent_p.T627T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	600					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GCGGGTGCACTGAGGGCACAC	0.706													6	29					0	0	0	0	A	1080350	T	A	1080350	2	1	385	1	0	0	0	0	0	0	0	1	7290	1567	55	5		5	HMHA1	19	1080350	Silent	SNP	T	TCGA-DQ-5629-01A-01D-1870-08		1080350	58048633	327	74322											
MUC16	94025	broad.mit.edu	37	chr19	9045667	9045667	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggtggttgttgtcttGgccacagtgggactggaacc	7	12	15	7	0	1	1	0	1	1	0	1	3	1	3	2	5	1	2	2	5	2	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:9045667G>A	ENST00000397910.4	-	5	36167	c.35964C>T	c.(35962-35964)gcC>gcT	p.A11988A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11990	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTTGTCTTGGCCACAGTGG	0.493													11	47					0	0	0	0	A	9045667	G	A	9045667	2	1	385	1	0	0	0	0	0	0	0	1	10043	1335	47	4		4	MUC16	19	9045667	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	7965317	9045667	50083316	328	74323											
ZNF177	7730	broad.mit.edu	37	chr19	9492182	9492182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acacacacgctctcacactgGagagaagccttatgagtgta	13	8	9	11	1	1	2	1	1	1	1	2	4	1	3	1	1	1	2	1	1	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:9492182G>C	ENST00000541595.2	+	12	1324	c.695G>C	c.(694-696)gGa>gCa	p.G232A	ZNF177_ENST00000434737.2_Missense_Mutation_p.G392A|ZNF177_ENST00000589262.1_Missense_Mutation_p.G392A|ZNF177_ENST00000602738.1_Missense_Mutation_p.G232A|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Missense_Mutation_p.G232A	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	232					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TCTCACACTGGAGAGAAGCCT	0.468													34	92					0	0	0	0	C	9492182	G	C	9492182	3	2	385	1	0	0	0	0	1	0	0	0	17841	1174	41	2	1193	2	ZNF177	19	9492182	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	446515	9492182	49636801	329	74324											
RAD23A	5886	broad.mit.edu	37	chr19	13060139	13060139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagccccagttccagaacAtgcggcaggtgattcagcag	11	6	11	13	1	1	2	1	1	0	1	2	2	2	2	4	2	4	3	4	2	1	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:13060139A>T	ENST00000586534.1	+	7	791	c.730A>T	c.(730-732)Atg>Ttg	p.M244L	RAD23A_ENST00000541222.1_Missense_Mutation_p.M79L|RAD23A_ENST00000316856.3_Missense_Mutation_p.M243L|RAD23A_ENST00000592268.1_Missense_Mutation_p.M244L|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	244					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GTTCCAGAACATGCGGCAGGT	0.637								Nucleotide excision repair (NER)					34	14					0	0	0	0	T	13060139	A	T	13060139	3	4	385	1	0	0	0	0	1	0	0	0	13064	217	8	5	756	5	RAD23A	19	13060139	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	3567957	13060139	46068844	330	74325											
EPS15L1	58513	broad.mit.edu	37	chr19	16528864	16528864	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgaaatacatagctaaCgcgaattggtctttgcttaa	14	13	8	6	2	1	2	0	2	1	0	1	3	1	2	0	1	4	2	0	1	7	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:16528864C>A	ENST00000602009.1	-	5	1435	c.540G>T	c.(538-540)gcG>gcT	p.A180A	EPS15L1_ENST00000594975.1_Silent_p.A334A|EPS15L1_ENST00000535753.2_Silent_p.A334A|EPS15L1_ENST00000455140.2_Silent_p.A334A|EPS15L1_ENST00000248070.6_Silent_p.A334A|EPS15L1_ENST00000597937.1_Silent_p.A334A			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	334	EF-hand.|EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACATAGCTAACGCGAATTGGT	0.562											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	20					6.19805e-25	8.5583e-25	1	0	A	16528864	C	A	16528864	2	1	385	1	0	0	0	0	0	0	0	1	5231	523	19	3		3	EPS15L1	19	16528864	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3468725	16528864	42600119	331	74326											
SIN3B	23309	broad.mit.edu	37	chr19	16962311	16962311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaggaagcgctcccggcCctcgctcctccgccccgtgt	4	6	11	20	5	0	0	0	0	0	0	4	1	3	1	6	2	2	3	6	2	1	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:16962311C>T	ENST00000379803.1	+	6	829	c.815C>T	c.(814-816)cCc>cTc	p.P272L	SIN3B_ENST00000596802.1_Missense_Mutation_p.P272L|SIN3B_ENST00000248054.5_Missense_Mutation_p.P272L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	272					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCTCCCGGCCCTCGCTCCTC	0.652													11	49					0	0	0	0	T	16962311	C	T	16962311	3	4	385	1	0	0	0	0	1	0	0	0	14414	623	22	4	837	4	SIN3B	19	16962311	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	433447	16962311	42166672	332	74327											
CPAMD8	27151	broad.mit.edu	37	chr19	17039991	17039991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatcaaagcgggtgaggcGcagtggccgctgcacatact	10	6	13	12	3	1	1	1	1	0	0	1	1	1	1	1	3	3	3	1	3	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:17039991G>T	ENST00000443236.1	-	24	3077	c.3046C>A	c.(3046-3048)Cgc>Agc	p.R1016S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	969						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGGGTGAGGCGCAGTGGCCGC	0.582													19	13					2.4624e-09	2.80877e-09	1	0	T	17039991	G	T	17039991	3	4	385	1	0	0	0	0	1	0	0	0	3825	1087	38	3	2828	3	CPAMD8	19	17039991	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	77680	17039991	42088992	333	74328											
FCHO1	23149	broad.mit.edu	37	chr19	17892276	17892276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagtctcgttccctgagcCcctccccactgggctcttca	4	11	7	19	1	3	1	1	1	2	0	7	1	6	1	6	1	1	2	6	1	0	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:17892276C>T	ENST00000594202.1	+	22	2035	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S	FCHO1_ENST00000389133.4_Missense_Mutation_p.P586S|FCHO1_ENST00000595033.1_Missense_Mutation_p.P536S|FCHO1_ENST00000252771.7_Missense_Mutation_p.P586S|FCHO1_ENST00000600676.1_Missense_Mutation_p.P586S|FCHO1_ENST00000597512.1_Missense_Mutation_p.P593S|FCHO1_ENST00000539407.1_Missense_Mutation_p.P586S|FCHO1_ENST00000596951.1_Missense_Mutation_p.P586S|FCHO1_ENST00000596536.1_Missense_Mutation_p.P586S	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	586										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TTCCCTGAGCCCCTCCCCACT	0.637													18	12					0	0	0	0	T	17892276	C	T	17892276	3	4	385	1	0	0	0	0	1	0	0	0	5832	623	22	4	1830	4	FCHO1	19	17892276	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	852285	17892276	41236707	334	74329											
WDR62	284403	broad.mit.edu	37	chr19	36557244	36557244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacaagtatggtgtggCgtgtgtggccttctcaccca	7	10	13	11	1	1	0	1	0	1	0	2	0	1	0	3	4	0	1	3	4	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:36557244C>A	ENST00000401500.2	+	5	511	c.476C>A	c.(475-477)gCg>gAg	p.A159E	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.A159E|WDR62_ENST00000270301.7_Missense_Mutation_p.A159E	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	159					cerebral cortex development	nucleus				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)			TATGGTGTGGCGTGTGTGGCC	0.562													7	6					1.26484e-09	1.45018e-09	1	0	A	36557244	C	A	36557244	3	1	385	1	0	0	0	0	1	0	0	0	17409	768	27	3	494	3	WDR62	19	36557244	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	18664968	36557244	22571739	335	74330											
ZFP82	284406	broad.mit.edu	37	chr19	36884242	36884242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcatagggtttctcacCagtatgaagtttgtgatgta	11	15	9	6	0	2	2	2	2	1	0	3	2	2	2	1	1	0	4	1	1	4	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:36884242C>A	ENST00000392161.3	-	5	1242	c.1000G>T	c.(1000-1002)Ggt>Tgt	p.G334C	ZFP82_ENST00000392171.1_Missense_Mutation_p.G334C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTTCTCACCAGTATGAAGT	0.433													25	102					1.64293e-13	2.00753e-13	1	0	A	36884242	C	A	36884242	3	1	385	1	0	0	0	0	1	0	0	0	17748	594	21	4	602	4	ZFP82	19	36884242	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	326998	36884242	22244741	336	74331											
ZNF829	374899	broad.mit.edu	37	chr19	37382725	37382725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactgcttacattcataaGgtttctcaccagtatgcatt	11	14	5	11	0	2	0	2	0	1	0	3	0	2	0	1	1	3	4	1	1	3	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:37382725G>A	ENST00000520965.1	-	6	1277	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.P323L	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAAGGTTTCTCACC	0.403													17	68					0	0	0	0	A	37382725	G	A	37382725	3	1	385	1	0	0	0	0	1	0	0	0	18275	1000	35	4	334	4	ZNF829	19	37382725	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	498483	37382725	21746258	337	74332											
ZNF585B	92285	broad.mit.edu	37	chr19	37676276	37676276	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggccttcccacactcAgcacacacgtaaggcttctc	11	8	6	16	1	2	0	1	0	1	0	4	0	3	0	2	2	1	3	2	2	3	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:37676276A>G	ENST00000532828.2	-	5	2414	c.2163T>C	c.(2161-2163)gcT>gcC	p.A721A	ZNF585B_ENST00000312908.5_Silent_p.A309A|ZNF585B_ENST00000531805.1_Silent_p.A666A|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCCACACTCAGCACACACGT	0.463													37	115					0	0	0	0	G	37676276	A	G	37676276	2	3	385	1	0	0	0	0	0	0	0	1	18113	175	7	5		5	ZNF585B	19	37676276	Silent	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	293551	37676276	21452707	338	74333											
FAM98C	147965	broad.mit.edu	37	chr19	38893838	38893838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggagggggccgcggtggcCcaggacctgctggctctggg	3	6	21	11	2	1	0	0	0	1	0	1	2	1	2	3	8	1	2	3	8	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:38893838C>T	ENST00000252530.5	+	1	64	c.45C>T	c.(43-45)gcC>gcT	p.A15A	FAM98C_ENST00000343358.7_Silent_p.A15A|FAM98C_ENST00000588262.1_Silent_p.A15A	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	15										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCGGTGGCCCAGGACCTGC	0.697													18	11					0	0	0	0	T	38893838	C	T	38893838	2	4	385	1	0	0	0	0	0	0	0	1	5703	610	22	4		4	FAM98C	19	38893838	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1217562	38893838	20235145	339	74334											
ECH1	1891	broad.mit.edu	37	chr19	39322049	39322049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgaagggactcatagcTgtggtctggggcttcaccga	9	8	13	11	2	3	0	2	0	1	0	3	3	3	1	1	4	1	2	1	4	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:39322049T>A	ENST00000221418.4	-	2	392	c.160A>T	c.(160-162)Agc>Tgc	p.S54C	AC104534.3_ENST00000594769.1_Silent_p.T223T|ECH1_ENST00000597805.1_Intron	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GACTCATAGCTGTGGTCTGGG	0.567													40	80					0	0	0	0	A	39322049	T	A	39322049	3	1	385	1	0	0	0	0	1	0	0	0	4928	1580	55	5	862	5	ECH1	19	39322049	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	428211	39322049	19806934	340	74335											
PRX	57716	broad.mit.edu	37	chr19	40901621	40901621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagggccctccacccgctCtcccttgcccattttagcgg	4	10	8	19	2	2	0	1	0	1	0	4	0	3	0	5	2	2	1	5	2	1	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:40901621C>T	ENST00000324001.7	-	7	2908	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	880					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCACCCGCTCTCCCTTGCCC	0.632													9	26					0	0	0	0	T	40901621	C	T	40901621	3	4	385	1	0	0	0	0	1	0	0	0	12721	922	32	2	1751	2	PRX	19	40901621	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1579572	40901621	18227362	341	74336											
PSG9	5678	broad.mit.edu	37	chr19	43772264	43772264	+	Frame_Shift_Del	DEL	G	G	-																															tgggcttcaatcgtgacttcGgcagtggtgggcgggttcca																								rs143419745	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:43772264delG	ENST00000244293.7	-	2	168	c.102delC	c.(100-102)gcfs	p.A34fs	PSG9_ENST00000596730.1_Frame_Shift_Del_p.A34fs|PSG9_ENST00000593948.1_Frame_Shift_Del_p.A34fs|PSG9_ENST00000418820.2_Frame_Shift_Del_p.A34fs|PSG9_ENST00000270077.3_Frame_Shift_Del_p.A34fs|PSG9_ENST00000443718.3_Frame_Shift_Del_p.A34fs|PSG9_ENST00000291752.5_Frame_Shift_Del_p.A34fs			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	34					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCGTGACTTCGGCAGTGGTGG	0.488													92	166	---	---	---	---					-	43772264	G	-	43772264	7	5	385	1	0	1	0	1	0	0	0	0	12741	1103	39	0	1198	0	PSG9	19	43772264	Frame_Shift_Del	DEL	G	TCGA-DQ-5629-01A-01D-1870-08	2870643	43772264	15356719	342	74337											
IRGQ	126298	broad.mit.edu	37	chr19	44096234	44096234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatcagcccgcatctcatCgagagcctgcagcaggacgc	10	5	11	15	3	2	1	2	0	1	1	4	3	2	2	2	1	5	4	2	1	0	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:44096234C>T	ENST00000422989.1	-	3	1971	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.D606N	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	606	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CGCATCTCATCGAGAGCCTGC	0.682													16	93					0	0	0	0	T	44096234	C	T	44096234	3	4	385	1	0	0	0	0	1	0	0	0	7892	884	31	1	59	1	IRGQ	19	44096234	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	323970	44096234	15032749	343	74338											
GYS1	2997	broad.mit.edu	37	chr19	49484827	49484827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctttgagggtttccaCgttgaaattgttggtccgcg	5	15	13	8	3	0	2	0	2	0	0	2	2	2	2	3	3	0	3	3	3	1	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:49484827C>A	ENST00000323798.3	-	8	1325	c.1129G>T	c.(1129-1131)Gtg>Ttg	p.V377L	GYS1_ENST00000541188.1_Missense_Mutation_p.V297L|GYS1_ENST00000544287.1_Missense_Mutation_p.V10L|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.V313L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	377					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGGGTTTCCACGTTGAAATTG	0.597													26	18					2.49534e-26	3.47789e-26	1	0	A	49484827	C	A	49484827	3	1	385	1	0	0	0	0	1	0	0	0	6962	536	19	3	1120	3	GYS1	19	49484827	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	5388593	49484827	9644156	344	74339											
LILRA2	11027	broad.mit.edu	37	chr19	55087488	55087488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtgacctcagcccaCgtggggacctacagatgcta	8	8	12	13	1	1	2	1	1	0	1	2	3	2	3	4	3	3	1	4	3	2	2	rs140195058		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:55087488C>A	ENST00000251377.3	+	7	1300	c.1167C>A	c.(1165-1167)caC>caA	p.H389Q	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H389Q|LILRA2_ENST00000391738.3_Missense_Mutation_p.H389Q|LILRA2_ENST00000391737.1_Missense_Mutation_p.H377Q|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTCAGCCCACGTGGGGACCT	0.622													43	78					9.14704e-12	1.09962e-11	1	0	A	55087488	C	A	55087488	3	1	385	1	0	0	0	0	1	0	0	0	8839	535	19	3	1189	3	LILRA2	19	55087488	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	5602661	55087488	4041495	345	74340											
NLRP8	126205	broad.mit.edu	37	chr19	56473475	56473475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgttggtggcaagacttAtgctctgtgtttgcaacgaa	9	13	11	8	2	1	1	0	0	1	1	2	2	1	1	0	2	3	5	0	2	4	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:56473475A>C	ENST00000291971.3	+	4	2156	c.2085A>C	c.(2083-2085)ttA>ttC	p.L695F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L695F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	695						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCAAGACTTATGCTCTGTGT	0.493													44	85					0	0	0	0	C	56473475	A	C	56473475	3	2	385	1	0	0	0	0	1	0	0	0	10553	446	16	5	2099	5	NLRP8	19	56473475	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	1385987	56473475	2655508	346	74341											
AURKC	6795	broad.mit.edu	37	chr19	57744010	57744010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctctacaaggagctgCagaaaagcgagaaattagat	16	7	12	6	1	1	4	0	1	1	3	1	6	1	5	0	1	5	3	0	1	6	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:57744010C>G	ENST00000302804.7	+	4	583	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	AURKC_ENST00000598785.1_Missense_Mutation_p.Q99E|AURKC_ENST00000599062.1_Missense_Mutation_p.Q130E|AURKC_ENST00000448930.1_Missense_Mutation_p.Q99E|AURKC_ENST00000415300.2_Missense_Mutation_p.Q114E	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	133	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CAAGGAGCTGCAGAAAAGCGA	0.542													15	67					0	0	0	0	G	57744010	C	G	57744010	3	3	385	1	0	0	0	0	1	0	0	0	1228	711	25	4	416	4	AURKC	19	57744010	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	1270535	57744010	1384973	347	74342											
PAK7	57144	broad.mit.edu	37	chr20	9525142	9525142	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatcagacaactttatCtgaaaaggaaaggaatgcaa	20	7	7	7	0	2	2	1	1	1	1	2	4	2	4	1	2	2	1	1	2	9	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:9525142C>A	ENST00000378429.3	-	9	2290		c.e9-1		PAK7_ENST00000378423.1_Splice_Site|PAK7_ENST00000353224.5_Splice_Site	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7								ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACAACTTTATCTGAAAAGGAA	0.388													12	45					4.3838e-07	4.83954e-07	1	0	A	9525142	C	A	9525142	5	1	385	1	0	0	0	0	0	0	1	0	11476	927	32	2	428	2	PAK7	20	9525142	Splice_Site	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		9525142	53500378	348	74343											
SEL1L2	80343	broad.mit.edu	37	chr20	13847353	13847353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatattatatttacctccaCagcagttctgcatgatctta	11	15	5	10	0	2	1	0	1	2	0	3	1	3	1	2	0	3	4	2	0	5	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:13847353C>A	ENST00000284951.5	-	15	1473	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.V467L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	467						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTACCTCCACAGCAGTTCTG	0.398													32	51					6.00712e-18	7.81101e-18	1	0	A	13847353	C	A	13847353	3	1	385	1	0	0	0	0	1	0	0	0	14098	478	17	4	691	4	SEL1L2	20	13847353	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	4322211	13847353	49178167	349	74344											
SEL1L2	80343	broad.mit.edu	37	chr20	13847424	13847424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagataataaatggcaaggGgctgcccactctgagatgcc	12	7	11	11	0	1	2	0	1	1	2	1	3	1	2	3	3	2	2	3	3	4	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:13847424G>A	ENST00000284951.5	-	15	1402	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.P443L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	443						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATGGCAAGGGGCTGCCCACT	0.408													32	41					0	0	0	0	A	13847424	G	A	13847424	3	1	385	1	0	0	0	0	1	0	0	0	14098	1232	43	4	762	4	SEL1L2	20	13847424	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	71	13847424	49178096	350	74345											
NINL	22981	broad.mit.edu	37	chr20	25456905	25456905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgtgcttgtgacaccCaggctccagggcgccctcgg	6	7	12	16	2	0	1	0	1	0	0	2	1	1	1	3	3	1	2	3	3	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:25456905C>A	ENST00000278886.6	-	17	3095	c.3022G>T	c.(3022-3024)Ggg>Tgg	p.G1008W	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1008					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTGTGACACCCAGGCTCCAGG	0.677													35	25					1.60099e-16	2.02852e-16	1	0	A	25456905	C	A	25456905	3	1	385	1	0	0	0	0	1	0	0	0	10490	594	21	4	1158	4	NINL	20	25456905	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	11609481	25456905	37568615	351	74346											
DEFB118	117285	broad.mit.edu	37	chr20	29960690	29960690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaaaaaaatgctggaacaGatcagggcactgcaggaaac	18	5	11	7	0	1	2	1	1	0	1	1	4	1	4	0	3	4	3	0	3	6	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:29960690G>C	ENST00000253381.2	+	2	122	c.89G>C	c.(88-90)aGa>aCa	p.R30T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	30					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGGAACAGATCAGGGCAC	0.403													6	30					0	0	0	0	C	29960690	G	C	29960690	3	2	385	1	0	0	0	0	1	0	0	0	4442	942	33	2	95	2	DEFB118	20	29960690	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4503785	29960690	33064830	352	74347											
KIAA1755	85449	broad.mit.edu	37	chr20	36869128	36869128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatgagaatttgagcccagGagtggggggctcaggggagg	10	6	20	5	0	1	2	1	2	0	1	1	6	1	4	1	7	1	1	1	7	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:36869128G>T	ENST00000279024.4	-	3	1676	c.1405C>A	c.(1405-1407)Cct>Act	p.P469T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	469										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGAGCCCAGGAGTGGGGGGC	0.552													17	43					4.75885e-15	5.89569e-15	1	0	T	36869128	G	T	36869128	3	4	385	1	0	0	0	0	1	0	0	0	8308	1174	41	2	2245	2	KIAA1755	20	36869128	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	6908438	36869128	26156392	353	74348											
SPATA2	9825	broad.mit.edu	37	chr20	48522917	48522917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactcaatgaggccttcaGgggtggcttccggctctccc	7	9	12	13	1	3	2	2	1	1	1	5	2	4	2	3	5	0	2	3	5	2	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:48522917G>T	ENST00000422556.1	-	3	1151	c.802C>A	c.(802-804)Ctg>Atg	p.L268M	SPATA2_ENST00000543716.1_Missense_Mutation_p.L131M|SPATA2_ENST00000289431.5_Missense_Mutation_p.L268M	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	268					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GAGGCCTTCAGGGGTGGCTTC	0.617													30	38					2.85442e-18	3.73334e-18	1	0	T	48522917	G	T	48522917	3	4	385	1	0	0	0	0	1	0	0	0	15095	991	35	4	764	4	SPATA2	20	48522917	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	11653789	48522917	14502603	354	74349											
FAM65C	140876	broad.mit.edu	37	chr20	49225879	49225879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaacctccagggccccctcGatgagccacatgtcctgcaa	9	7	9	16	1	0	2	0	2	0	0	3	3	2	2	6	1	3	1	6	1	2	0			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:49225879G>C	ENST00000327979.2	-	8	990	c.579C>G	c.(577-579)atC>atG	p.I193M	FAM65C_ENST00000535356.1_Missense_Mutation_p.I197M|FAM65C_ENST00000045083.2_Missense_Mutation_p.I193M			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	193										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCCCCTCGATGAGCCACA	0.647													6	11					0	0	0	0	C	49225879	G	C	49225879	3	2	385	1	0	0	0	0	1	0	0	0	5647	1048	37	3	2321	3	FAM65C	20	49225879	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	702962	49225879	13799641	355	74350											
DOK5	55816	broad.mit.edu	37	chr20	53227044	53227044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcacgagcgcttgctacaGagtgtgaaaaactcgatggt	12	8	12	9	3	0	2	0	1	0	1	1	4	0	2	0	1	5	3	0	1	3	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:53227044G>C	ENST00000262593.5	+	6	1067	c.717G>C	c.(715-717)caG>caC	p.Q239H	DOK5_ENST00000395939.1_Missense_Mutation_p.Q131H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	239							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCTTGCTACAGAGTGTGAAAA	0.498													11	31					0	0	0	0	C	53227044	G	C	53227044	3	2	385	1	0	0	0	0	1	0	0	0	4736	933	33	2	739	2	DOK5	20	53227044	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	4001165	53227044	9798476	356	74351											
TAF4	6874	broad.mit.edu	37	chr20	60584179	60584179	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgccagatgaagccagttTtattaacgtagataggaaat	14	12	9	6	1	0	3	0	1	0	2	0	4	0	4	2	1	3	2	2	1	6	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:60584179T>A	ENST00000252996.3	-	5	1812	c.1813A>T	c.(1813-1815)Aaa>Taa	p.K605*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	605	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAAGCCAGTTTTATTAACGTA	0.348													38	51					0	0	0	0	A	60584179	T	A	60584179	4	1	385	1	0	0	0	0	0	1	0	0	15617	1850	64	5	1488	5	TAF4	20	60584179	Nonsense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	7357135	60584179	2441341	357	74352											
OPRL1	4987	broad.mit.edu	37	chr20	62729191	62729191	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagccaccaatatttacatCtttaacctggccctggccga	11	10	6	14	1	1	0	0	0	1	0	1	1	1	0	5	2	3	0	5	2	4	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:62729191C>G	ENST00000349451.3	+	5	682	c.270C>G	c.(268-270)atC>atG	p.I90M	OPRL1_ENST00000355631.4_Missense_Mutation_p.I90M|OPRL1_ENST00000336866.2_Missense_Mutation_p.I90M	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	90					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ATATTTACATCTTTAACCTGG	0.577													42	116					0	0	0	0	G	62729191	C	G	62729191	3	3	385	1	0	0	0	0	1	0	0	0	10957	903	32	2	276	2	OPRL1	20	62729191	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	2145012	62729191	296329	358	74353											
MYT1	4661	broad.mit.edu	37	chr20	62837126	62837126	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagacgtcaggacaggacGagattcatcgccccgagaca	12	5	12	12	4	2	3	2	1	0	3	3	8	2	5	2	2	0	0	2	2	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:62837126G>T	ENST00000536311.1	+	6	734	c.370G>T	c.(370-372)Gag>Tag	p.E124*	MYT1_ENST00000360149.4_Nonsense_Mutation_p.E124*|MYT1_ENST00000328439.1_Nonsense_Mutation_p.E124*			Q01538	MYT1_HUMAN	myelin transcription factor 1	124					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)					AGGACAGGACGAGATTCATCG	0.587													7	24					8.12818e-05	8.57014e-05	1	0	T	62837126	G	T	62837126	4	4	385	1	0	0	0	0	0	1	0	0	10176	1059	37	3	384	3	MYT1	20	62837126	Nonsense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	107935	62837126	188394	359	74354											
MICAL3	57553	broad.mit.edu	37	chr22	18273802	18273802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagctcctgctgcagtCgactctgccggtcttccagc	4	9	11	17	3	2	0	0	0	2	0	5	2	4	1	4	2	5	3	4	2	0	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:18273802C>A	ENST00000441493.2	-	31	6138	c.5786G>T	c.(5785-5787)cGa>cTa	p.R1929L	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1929						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCTGCAGTCGACTCTGCCG	0.662													9	14					1.12685e-05	1.21103e-05	1	0	A	18273802	C	A	18273802	3	1	385	1	0	0	0	0	1	0	0	0	9640	884	31	3	230	3	MICAL3	22	18273802	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08		18273802	33030764	360	74355											
RIMBP3	85376	broad.mit.edu	37	chr22	20458180	20458180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacaggccctggaaggtgTagcagctcacgcccgctggg	7	5	16	13	2	1	0	1	0	0	0	1	1	1	1	2	5	2	5	2	5	2	1			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:20458180T>A	ENST00000426804.1	-	1	3606	c.3122A>T	c.(3121-3123)tAc>tTc	p.Y1041F		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGGAAGGTGTAGCAGCTCAC	0.642													4	29					0	0	0	0	A	20458180	T	A	20458180	3	1	385	1	0	0	0	0	1	0	0	0	13447	1638	57	5	1801	5	RIMBP3	22	20458180	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	2184378	20458180	30846386	361	74356											
ZNF280B	140883	broad.mit.edu	37	chr22	22843194	22843194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgctgtttacttcgaaaGtggaaagttgctttgataca	11	16	9	5	1	0	1	0	1	0	0	1	3	0	2	0	1	4	4	0	1	5	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:22843194G>C	ENST00000360412.2	-	4	1305	c.530C>G	c.(529-531)aCt>aGt	p.T177S	ZNF280B_ENST00000406426.1_Missense_Mutation_p.T177S	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TACTTCGAAAGTGGAAAGTTG	0.383													68	66					0	0	0	0	C	22843194	G	C	22843194	3	2	385	1	0	0	0	0	1	0	0	0	17910	1029	36	4	1105	4	ZNF280B	22	22843194	Missense_Mutation	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	2385014	22843194	28461372	362	74357											
ADRBK2	157	broad.mit.edu	37	chr22	26040617	26040617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaagctgtacctcaggtGaagttttatgaagaggtaag	14	11	12	4	0	1	4	1	3	0	1	1	4	1	4	1	2	2	4	1	2	7	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:26040617G>A	ENST00000324198.5	+	3	441	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	83	N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TACCTCAGGTGAAGTTTTATG	0.279													8	15					0	0	0	0	A	26040617	G	A	26040617	2	1	385	1	0	0	0	0	0	0	0	1	344	1277	45	2		2	ADRBK2	22	26040617	Silent	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	3197423	26040617	25263949	363	74358											
HPS4	89781	broad.mit.edu	37	chr22	26860632	26860632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcatccgttctccttccTgccatctggacaagcttcgt	7	12	7	15	2	2	0	0	0	2	0	6	1	4	1	4	1	3	3	4	1	2	3			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:26860632T>C	ENST00000398145.2	-	11	1580	c.964A>G	c.(964-966)Agg>Ggg	p.R322G	HPS4_ENST00000336873.5_Missense_Mutation_p.R322G|HPS4_ENST00000402105.3_Missense_Mutation_p.R317G|HPS4_ENST00000398141.1_Missense_Mutation_p.R335G	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	322					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTCCTTCCTGCCATCTGGA	0.587									Hermansky-Pudlak syndrome				16	67					0	0	0	0	C	26860632	T	C	26860632	3	2	385	1	0	0	0	0	1	0	0	0	7391	1579	55	5	1178	5	HPS4	22	26860632	Missense_Mutation	SNP	T	TCGA-DQ-5629-01A-01D-1870-08	820015	26860632	24443934	364	74359											
GK	2710	broad.mit.edu	37	chrX	30745636	30745636	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttttatagtgagtagcAtggtaatgttaatcggagca	11	15	11	4	1	0	1	0	1	0	0	1	2	0	2	0	2	2	6	0	2	5	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:30745636A>T	ENST00000378943.3	+	19	1797	c.1618A>T	c.(1618-1620)Atg>Ttg	p.M540L	GK_ENST00000378945.3_Intron|GK_ENST00000427190.1_Missense_Mutation_p.M341L|GK_ENST00000378946.3_Intron	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	546					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AGTGAGTAGCATGGTAATGTT	0.388													10	5					0	0	0	0	T	30745636	A	T	30745636	3	4	385	1	0	0	0	0	1	0	0	0	6471	217	8	5	1714	5	GK	23	30745636	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08		30745636	124524924	365	74360											
CXorf22	170063	broad.mit.edu	37	chrX	35969932	35969932	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattacagggtacagatattCaacaaagaacagatattgct	17	11	7	6	0	1	3	1	0	0	3	1	3	1	3	0	1	5	2	0	1	8	7			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:35969932C>T	ENST00000297866.5	+	6	964	c.898C>T	c.(898-900)Caa>Taa	p.Q300*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	300										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACAGATATTCAACAAAGAAC	0.279													5	8					0	0	0	0	T	35969932	C	T	35969932	4	4	385	1	0	0	0	0	0	1	0	0	4134	827	29	2	920	2	CXorf22	23	35969932	Nonsense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	5224296	35969932	119300628	366	74361											
ATRX	546	broad.mit.edu	37	chrX	76938209	76938209	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatcttcagaagagtcaaAatcttttgtatttggaattc	12	16	6	7	0	5	2	3	0	2	2	6	3	5	3	0	1	0	1	0	1	5	6			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:76938209A>T	ENST00000373344.5	-	9	2753	c.2539T>A	c.(2539-2541)Ttt>Att	p.F847I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.F809I	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	847					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAGAGTCAAAATCTTTTGTA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						101	175					0	0	0	0	T	76938209	A	T	76938209	3	4	385	1	0	0	0	0	1	0	0	0	1212	14	1	5	5047	5	ATRX	23	76938209	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	40968277	76938209	78332351	367	74362											
DACH2	117154	broad.mit.edu	37	chrX	85969660	85969661	+	Frame_Shift_Ins	INS	-	-	A																															accatctcaatactattgccINSaacatggctgctgcagcaca																										TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:85969660_85969661insA	ENST00000373131.1	+	5	1165_1166	c.1002_1003insA	c.(1000-1005)gcacatfs	p.H335fs	DACH2_ENST00000508860.1_Frame_Shift_Ins_p.H181fs|DACH2_ENST00000373125.4_Frame_Shift_Ins_p.H348fs|DACH2_ENST00000510272.1_Frame_Shift_Ins_p.H129fs	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATACTATTGCCAACATGGCTGC	0.446													21	33	---	---	---	---					A	85969661	-	A	85969660	7	5	385	1	0	1	1	0	0	0	0	0	4254	581	21	0	1063	0	DACH2	23	85969660	Frame_Shift_Ins	INS	-	TCGA-DQ-5629-01A-01D-1870-08	9031451	85969660	69300900	368	74363											
PCDH11X	27328	broad.mit.edu	37	chrX	91131853	91131853	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacaactgattgttcaaaAggagttagatagggaagaga	16	8	12	5	0	1	3	1	1	0	2	1	6	1	5	1	2	1	2	1	2	6	4			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:91131853A>T	ENST00000373094.1	+	2	1459	c.614A>T	c.(613-615)aAg>aTg	p.K205M	PCDH11X_ENST00000373088.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K205M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K205M|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K205M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	205	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTGTTCAAAAGGAGTTAGAT	0.398													21	53					0	0	0	0	T	91131853	A	T	91131853	3	4	385	1	0	0	0	0	1	0	0	0	11579	72	3	5	620	5	PCDH11X	23	91131853	Missense_Mutation	SNP	A	TCGA-DQ-5629-01A-01D-1870-08	5162193	91131853	64138707	369	74364											
VSIG1	340547	broad.mit.edu	37	chrX	107310364	107310364	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaacgtcagtgtgttaGgtatgagcacttttttctgc	7	16	9	9	1	3	1	2	1	1	0	4	1	4	1	1	1	3	3	1	1	3	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:107310364G>A	ENST00000415430.3	+	4	681	c.520_splice	c.e4+1	p.V174_splice	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Splice_Site_p.V138_splice	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	138	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGTGTGTTAGGTATGAGCAC	0.438													73	16					0	0	0	0	A	107310364	G	A	107310364	5	1	385	1	0	0	0	0	0	0	1	0	17318	1014	35	4	534	4	VSIG1	23	107310364	Splice_Site	SNP	G	TCGA-DQ-5629-01A-01D-1870-08	16178511	107310364	47960196	370	74365											
CAPN6	827	broad.mit.edu	37	chrX	110495672	110495672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaatgtgcccgtgaagtCcacaataatatcagtgatgg	13	9	10	9	1	1	2	1	2	0	0	2	2	2	2	3	1	2	0	3	1	5	2			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:110495672C>A	ENST00000324068.1	-	5	729	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	188	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCCGTGAAGTCCACAATAATA	0.433													35	14					6.70999e-13	8.13221e-13	1	0	A	110495672	C	A	110495672	3	1	385	1	0	0	0	0	1	0	0	0	2655	855	30	2	1399	2	CAPN6	23	110495672	Missense_Mutation	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	3185308	110495672	44774888	371	74366											
SPRY3	10251	broad.mit.edu	37	chrX	155003585	155003585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattctgcctattgaacagCtgcgctctactcatgctagc	10	12	7	12	1	3	1	1	1	2	0	3	1	3	1	1	0	7	3	1	0	5	5			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:155003585C>T	ENST00000302805.2	+	2	483	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	18					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATTGAACAGCTGCGCTCTAC	0.488													74	39					0	0	0	0	T	155003585	C	T	155003585	2	4	385	1	0	0	0	0	0	0	0	1	15197	796	28	4		4	SPRY3	23	155003585	Silent	SNP	C	TCGA-DQ-5629-01A-01D-1870-08	44507913	155003585	266975	372	74367											
NPHP4	261734	broad.mit.edu	37	chr1	5947504	5947504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggaggcctgcacagccGgccggccttggcggaggaga	6	4	19	12	4	0	1	0	0	0	1	0	4	0	3	4	7	2	1	4	7	0	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:5947504G>A	ENST00000378156.4	-	18	2592	c.2327C>T	c.(2326-2328)cCg>cTg	p.P776L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	776			P -> R (in NPHP4).		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACAGCCGGCCGGCCTTG	0.637													10	46					0	0	0	0	A	5947504	G	A	5947504	3	1	386	1	0	0	0	0	1	0	0	0	10651	1116	39	1	2005	1	NPHP4	1	5947504	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08		5947504	243303117	1	74368											
ARID1A	8289	broad.mit.edu	37	chr1	27088796	27088796	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtccccaggggggtcAgtatggcccacaaggtcagt	8	8	14	11	0	2	0	2	0	0	0	3	0	3	0	3	6	0	1	3	6	3	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:27088796A>C	ENST00000324856.7	+	7	2776	c.2405A>C	c.(2404-2406)cAg>cCg	p.Q802P	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q419P|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q802P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	802					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGGGGGTCAGTATGGCCCA	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								14	80					0	0	0	0	C	27088796	A	C	27088796	3	2	386	1	0	0	0	0	1	0	0	0	915	188	7	5	2431	5	ARID1A	1	27088796	Missense_Mutation	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	21141292	27088796	222161825	2	74369											
HFM1	164045	broad.mit.edu	37	chr1	91851392	91851392	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcagatattttaaataatCtgcaaacaaaaaaaagaccc	20	10	4	7	0	2	2	1	0	1	2	2	2	2	2	1	0	2	1	1	0	9	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:91851392C>G	ENST00000370425.3	-	5	593		c.e5-1		HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATAATCTGCAAACAAA	0.328													5	59					0	0	0	0	G	91851392	C	G	91851392	5	3	386	1	0	0	0	0	0	0	1	0	7133	927	32	2	3953	2	HFM1	1	91851392	Splice_Site	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	64762596	91851392	157399229	3	74370											
CELSR2	1952	broad.mit.edu	37	chr1	109793507	109793507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacggcatgccccgacGaagtgccctggctacactca	9	5	11	16	3	1	0	1	0	0	0	1	3	1	1	4	3	3	2	4	3	2	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109793507G>T	ENST00000271332.3	+	1	867	c.806G>T	c.(805-807)cGa>cTa	p.R269L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	269	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATGCCCCGACGAAGTGCCCTG	0.592													8	59					1.06961e-07	1.20059e-07	1	0	T	109793507	G	T	109793507	3	4	386	1	0	0	0	0	1	0	0	0	3251	1058	37	3	808	3	CELSR2	1	109793507	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	17942115	109793507	139457114	4	74371											
CELSR2	1952	broad.mit.edu	37	chr1	109794913	109794915	+	In_Frame_Del	DEL	GAT	GAT	-																															tggtgctgatcagcgccacgGatgaggacacaggtgagaat																										TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109794913_109794915delGAT	ENST00000271332.3	+	1	2273_2275	c.2212_2214delGAT	c.(2212-2214)del	p.D738del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	738	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCGCCACGGATGAGGACACAG	0.596													9	54	---	---	---	---					-	109794915	GAT	-	109794913	7	5	386	1	0	1	0	1	0	0	0	0	3251	1174	41	0	2214	0	CELSR2	1	109794913	In_Frame_Del	DEL	GAT	TCGA-DQ-5630-01A-01D-1870-08	1406	109794913	139455708	5	74372											
SORT1	6272	broad.mit.edu	37	chr1	109897024	109897024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaagataatcagaattctGagggctatacatcatctgag	16	11	8	6	0	4	4	2	2	2	2	4	4	4	4	0	1	1	1	0	1	6	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109897024G>C	ENST00000256637.6	-	5	731	c.673C>G	c.(673-675)Cag>Gag	p.Q225E	SORT1_ENST00000538502.1_Missense_Mutation_p.Q89E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	225					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCAGAATTCTGAGGGCTATAC	0.383													5	71					0	0	0	0	C	109897024	G	C	109897024	3	2	386	1	0	0	0	0	1	0	0	0	15023	1299	45	2	1886	2	SORT1	1	109897024	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	102111	109897024	139353597	6	74373											
HRNR	388697	broad.mit.edu	37	chr1	152187542	152187542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccccgaaccggacccaTgtcggccgcggctaggggaa	8	4	15	14	5	0	0	0	0	0	0	1	3	0	2	5	5	2	1	5	5	3	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:152187542T>C	ENST00000368801.2	-	3	6638	c.6563A>G	c.(6562-6564)cAt>cGt	p.H2188R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2188					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGGACCCATGTCGGCCGCG	0.647													13	243					0	0	0	0	C	152187542	T	C	152187542	3	2	386	1	0	0	0	0	1	0	0	0	7409	1464	51	5	1993	5	HRNR	1	152187542	Missense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08	42290518	152187542	97063079	7	74374											
PRCC	5546	broad.mit.edu	37	chr1	156770249	156770249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccaagccaaatatggattCtagggctctggaactgattg	12	10	10	9	0	2	1	0	1	2	0	2	3	2	3	2	3	2	1	2	3	5	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:156770249C>T	ENST00000271526.4	+	7	1745	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	PRCC_ENST00000353233.3_Silent_p.F459F	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	491					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AATATGGATTCTAGGGCTCTG	0.597			T	TFE3	papillary renal								11	83					0	0	0	0	T	156770249	C	T	156770249	2	4	386	1	0	0	0	0	0	0	0	1	12527	912	32	2		2	PRCC	1	156770249	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	4582707	156770249	92480372	8	74375											
ASTN1	460	broad.mit.edu	37	chr1	176993768	176993768	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgatcttgacaacgagAgggcagttgacgtgagagga	12	7	17	5	2	1	5	0	4	1	2	1	8	1	6	0	3	1	2	0	3	1	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:176993768A>T	ENST00000367654.2	-	6	1234	c.1221T>A	c.(1219-1221)ccT>ccA	p.P407P	ASTN1_ENST00000367657.3_Silent_p.P407P|ASTN1_ENST00000361833.2_Silent_p.P407P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.P407P			O14525	ASTN1_HUMAN	astrotactin 1	407					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGACAACGAGAGGGCAGTTGA	0.537													5	36					0	0	0	0	T	176993768	A	T	176993768	2	4	386	1	0	0	0	0	0	0	0	1	1068	291	11	5		5	ASTN1	1	176993768	Silent	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	20223519	176993768	72256853	9	74376											
ETNK2	55224	broad.mit.edu	37	chr1	204115797	204115797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcgttcttcacaagcGtgaaataattgtgcatcttg	10	15	8	8	2	4	2	1	2	3	0	5	2	4	2	0	0	2	2	0	0	3	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:204115797G>A	ENST00000367202.4	-	3	764	c.614C>T	c.(613-615)aCg>aTg	p.T205M	ETNK2_ENST00000367198.2_Missense_Mutation_p.T27M|ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367201.3_Missense_Mutation_p.T205M	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205							ATP binding|choline kinase activity|ethanolamine kinase activity	p.T205M(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCACAAGCGTGAAATAATT	0.502													11	94					0	0	0	0	A	204115797	G	A	204115797	3	1	386	1	0	0	0	0	1	0	0	0	5312	1145	40	1	570	1	ETNK2	1	204115797	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	27122029	204115797	45134824	10	74377											
POLR1A	25885	broad.mit.edu	37	chr2	86258685	86258685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccttccctgtggggatttCgttcctcctgcatgtcttca	4	15	8	14	1	2	0	1	0	1	0	6	1	5	1	4	2	1	2	4	2	0	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:86258685C>T	ENST00000263857.6	-	30	4724	c.4346G>A	c.(4345-4347)cGa>cAa	p.R1449Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1449Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1449					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGGATTTCGTtcctcctg	0.577													12	78					0	0	0	0	T	86258685	C	T	86258685	3	4	386	1	0	0	0	0	1	0	0	0	12281	884	31	1	836	1	POLR1A	2	86258685	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		86258685	156940688	11	74378											
IL1R2	7850	broad.mit.edu	37	chr2	102642600	102642600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaaaataatgagaactaCattgaagtgccattgatttt	16	13	7	5	0	1	4	1	3	0	2	1	5	1	4	1	0	3	0	1	0	6	6			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:102642600C>T	ENST00000332549.3	+	8	1144	c.915C>T	c.(913-915)taC>taT	p.Y305Y	IL1R2_ENST00000393414.2_Silent_p.Y305Y|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	305	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATGAGAACTACATTGAAGTGC	0.338													7	64					0	0	0	0	T	102642600	C	T	102642600	2	4	386	1	0	0	0	0	0	0	0	1	7712	489	17	4		4	IL1R2	2	102642600	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	16383915	102642600	140556773	12	74379											
TTN	7273	broad.mit.edu	37	chr2	179585124	179585128	+	Frame_Shift_Del	DEL	CAGAG	CAGAG	-																															atacaaacctttgaacttgaCagagcaagaacacgtgtcac																										TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:179585124_179585128delCAGAG	ENST00000589042.1	-	80	23585_23589	c.23361_23365delCTCTG	c.(23359-23367)tgtcfs	p.CSV7787fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.CSV6543fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.CSV7470fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7470	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAACTTGACAGAGCAAGAACACG	0.405													14	164	---	---	---	---					-	179585128	CAGAG	-	179585124	7	5	386	1	0	1	0	1	0	0	0	0	16831	478	17	0	81296	0	TTN	2	179585124	Frame_Shift_Del	DEL	CAGAG	TCGA-DQ-5630-01A-01D-1870-08	76942524	179585124	63614249	13	74380											
NOP58	51602	broad.mit.edu	37	chr2	203168128	203168128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtccagagaaaaagaagaAaaagaaaaaaaagagagaga	27	1	11	2	0	0	6	0	0	0	6	1	10	1	6	1	0	0	0	1	0	9	0			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:203168128A>G	ENST00000264279.5	+	15	1785	c.1559A>G	c.(1558-1560)aAa>aGa	p.K520R		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	520	Lys-rich.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						aaaaagaagaaaaagaaaaaa	0.368													10	57					0	0	0	0	G	203168128	A	G	203168128	3	3	386	1	0	0	0	0	1	0	0	0	10610	14	1	5	1617	5	NOP58	2	203168128	Missense_Mutation	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	23583004	203168128	40031245	14	74381											
WDR12	55759	broad.mit.edu	37	chr2	203764342	203764342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatacttctccacgtattCtatttccacaacttcttcct	9	17	2	13	1	3	0	0	0	3	0	6	0	5	0	3	0	2	2	3	0	5	9			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:203764342C>G	ENST00000261015.3	-	4	999	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	84					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCACGTATTCTATTTCCACA	0.393													4	72					0	0	0	0	G	203764342	C	G	203764342	3	3	386	1	0	0	0	0	1	0	0	0	17370	922	32	2	1061	2	WDR12	2	203764342	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	596214	203764342	39435031	15	74382											
SH3BP4	23677	broad.mit.edu	37	chr2	235949576	235949576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagacaaccccacacctttcGgaaatgcaaaggaagtgatt	15	8	8	10	1	0	2	0	1	0	1	1	4	0	4	3	2	2	1	3	2	5	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:235949576G>A	ENST00000409212.1	+	4	670	c.163G>A	c.(163-165)Gga>Aga	p.G55R	SH3BP4_ENST00000344528.4_Missense_Mutation_p.G55R|SH3BP4_ENST00000392011.2_Missense_Mutation_p.G55R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	55	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CACACCTTTCGGAAATGCAAA	0.532													31	157					0	0	0	0	A	235949576	G	A	235949576	3	1	386	1	0	0	0	0	1	0	0	0	14333	1117	39	1	169	1	SH3BP4	2	235949576	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	32185234	235949576	7249797	16	74383											
AGAP1	116987	broad.mit.edu	37	chr2	236659046	236659046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgatgacgccagggcgaGgaagctctccaacgacctga	11	5	12	13	4	1	2	0	2	1	0	3	6	1	3	3	2	2	1	3	2	2	0			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:236659046G>A	ENST00000409538.1	+	6	1878	c.1382G>A	c.(1381-1383)aGg>aAg	p.R461K	AGAP1_ENST00000409457.1_Missense_Mutation_p.R196K|AGAP1_ENST00000336665.5_Missense_Mutation_p.R196K|AGAP1_ENST00000428334.2_Missense_Mutation_p.R35K|AGAP1_ENST00000304032.7_Missense_Mutation_p.R196K			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	196	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCCAGGGCGAGGAAGCTCTCC	0.527													34	136					0	0	0	0	A	236659046	G	A	236659046	3	1	386	1	0	0	0	0	1	0	0	0	366	1000	35	4	609	4	AGAP1	2	236659046	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	709470	236659046	6540327	17	74384											
DNAH1	25981	broad.mit.edu	37	chr3	52380551	52380551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccatgcgcagcagcctgCgcgacatgagcaagggctgg	8	5	16	12	3	0	1	0	1	0	0	0	2	0	1	2	3	5	4	2	3	1	0			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:52380551C>T	ENST00000420323.2	+	11	1981	c.1720C>T	c.(1720-1722)Cgc>Tgc	p.R574C		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	574	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCAGCCTGCGCGACATGAG	0.567													4	17					0	0	0	0	T	52380551	C	T	52380551	3	4	386	1	0	0	0	0	1	0	0	0	4634	768	27	1	1758	1	DNAH1	3	52380551	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		52380551	145641879	18	74385											
OR5AC2	81050	broad.mit.edu	37	chr3	97806749	97806749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccttctccacatgcggcGcccatctgctttctgtctca	6	12	7	16	2	4	0	1	0	4	0	6	0	4	0	3	1	3	1	3	1	1	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:97806749G>A	ENST00000358642.2	+	1	733	c.733G>A	c.(733-735)Gcc>Acc	p.A245T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A245T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CACATGCGGCGCCCATCTGCT	0.423													7	56					0	0	0	0	A	97806749	G	A	97806749	3	1	386	1	0	0	0	0	1	0	0	0	11212	1087	38	1	735	1	OR5AC2	3	97806749	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	45426198	97806749	100215681	19	74386											
NR1I2	8856	broad.mit.edu	37	chr3	119534276	119534276	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatgcaggccatctccctCttctccccaggtgaggatct	6	11	9	15	0	4	2	0	2	4	0	6	3	4	3	4	3	1	1	4	3	0	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:119534276C>G	ENST00000393716.2	+	7	2883	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L	NR1I2_ENST00000337940.4_Silent_p.L387L|NR1I2_ENST00000466380.1_Silent_p.L311L	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	348	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CCATCTCCCTCTTCTCCCCAG	0.567													8	76					0	0	0	0	G	119534276	C	G	119534276	2	3	386	1	0	0	0	0	0	0	0	1	10691	900	32	2		2	NR1I2	3	119534276	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	21727527	119534276	78488154	20	74387											
PARP14	54625	broad.mit.edu	37	chr3	122411306	122411306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttgttagtggagaacAtaagtggcctgtctaatgat	12	14	10	5	0	2	2	0	1	2	1	2	3	2	2	1	2	1	1	1	2	5	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:122411306A>G	ENST00000474629.2	+	4	780	c.514A>G	c.(514-516)Ata>Gta	p.I172V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGTGGAGAACATAAGTGGCCT	0.363													14	65					0	0	0	0	G	122411306	A	G	122411306	3	3	386	1	0	0	0	0	1	0	0	0	11529	217	8	5	528	5	PARP14	3	122411306	Missense_Mutation	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	2877030	122411306	75611124	21	74388											
TOPBP1	11073	broad.mit.edu	37	chr3	133327412	133327412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcaatgtattctgttctCaagcagtacacgttctgggc	9	13	9	10	1	4	0	2	0	3	0	5	0	4	0	0	1	3	6	0	1	4	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:133327412C>G	ENST00000260810.5	-	27	4523	c.4392G>C	c.(4390-4392)ttG>ttC	p.L1464F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1464	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ATTCTGTTCTCAAGCAGTACA	0.393								Other conserved DNA damage response genes					11	129					0	0	0	0	G	133327412	C	G	133327412	3	3	386	1	0	0	0	0	1	0	0	0	16464	825	29	2	184	2	TOPBP1	3	133327412	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	10916106	133327412	64695018	22	74389											
SHOX2	6474	broad.mit.edu	37	chr3	157820662	157820662	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatcctctttgcgatctttCagctccggggacactggagg	6	11	12	12	2	3	0	1	0	2	0	5	3	5	2	2	4	2	2	2	4	0	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:157820662C>G	ENST00000389589.4	-	3	567	c.432G>C	c.(430-432)ctG>ctC	p.L144L	SHOX2_ENST00000425436.3_Silent_p.L120L|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000483851.2_Silent_p.L120L	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	120					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGATCTTTCAGCTCCGGGG	0.572													6	73					0	0	0	0	G	157820662	C	G	157820662	2	3	386	1	0	0	0	0	0	0	0	1	14377	813	29	2		2	SHOX2	3	157820662	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	24493250	157820662	40201768	23	74390											
PIK3CA	5290	broad.mit.edu	37	chr3	178928073	178928073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttggccagtacctcatGgattagaagatttgctgaac	11	13	9	8	0	2	3	1	1	1	2	2	4	2	4	2	2	3	2	2	2	4	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:178928073G>A	ENST00000263967.3	+	8	1508	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	451	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H450fs*9(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGTACCTCATGGATTAGAAGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	89					0	0	0	0	A	178928073	G	A	178928073	3	1	386	1	0	0	0	0	1	0	0	0	11985	1349	47	4	1377	4	PIK3CA	3	178928073	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	21107411	178928073	19094357	24	74391											
ACAP2	23527	broad.mit.edu	37	chr3	195041540	195041540	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagaatcatcactggagaaAtcctacacaaaataacacat	19	9	4	9	0	2	2	2	0	0	2	3	3	3	2	1	1	2	0	1	1	7	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:195041540A>C	ENST00000326793.6	-	10	977	c.747T>G	c.(745-747)gaT>gaG	p.D249E		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	249					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CACTGGAGAAATCCTACACAA	0.348													3	54					0	0	0	0	C	195041540	A	C	195041540	3	2	386	1	0	0	0	0	1	0	0	0	119	98	4	5	1645	5	ACAP2	3	195041540	Missense_Mutation	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	16113467	195041540	2980890	25	74392											
MUC4	4585	broad.mit.edu	37	chr3	195517410	195517410	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataaaacagttgatgttgtAaccggtgtgagggtgttgag	11	12	15	3	1	0	3	0	3	0	0	0	4	0	3	1	2	2	4	1	2	3	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:195517410A>G	ENST00000463781.3	-	2	1500	c.1041T>C	c.(1039-1041)gtT>gtC	p.V347V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.V347V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	352					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGATGTTGTAACCGGTGTGA	0.473													10	304					0	0	0	0	G	195517410	A	G	195517410	2	3	386	1	0	0	0	0	0	0	0	1	10048	349	13	5		5	MUC4	3	195517410	Silent	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	475870	195517410	2505020	26	74393											
MSX1	4487	broad.mit.edu	37	chr4	4864702	4864702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcccatgctgccaccGgctgccttcggcctctcctt	4	9	9	19	2	1	0	0	0	1	0	3	0	1	0	7	2	4	2	7	2	1	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:4864702G>A	ENST00000382723.4	+	2	978	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	242					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCTGCCACCGGCTGCCTTCG	0.672													4	25					0	0	0	0	A	4864702	G	A	4864702	2	1	386	1	0	0	0	0	0	0	0	1	9965	1103	39	1		1	MSX1	4	4864702	Silent	SNP	G	TCGA-DQ-5630-01A-01D-1870-08		4864702	186289574	27	74394											
FGF2	2247	broad.mit.edu	37	chr4	123797546	123797546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgctaaccgttacctGgctatgaaggaagatggaag	11	10	14	6	1	0	2	0	1	0	1	0	4	0	4	2	3	3	3	2	3	6	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:123797546G>A	ENST00000264498.3	+	2	716	c.648G>A	c.(646-648)ctG>ctA	p.L216L		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	216					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	ACCGTTACCTGGCTATGAAGG	0.378													5	53					0	0	0	0	A	123797546	G	A	123797546	2	1	386	1	0	0	0	0	0	0	0	1	5893	1335	47	4		4	FGF2	4	123797546	Silent	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	118932844	123797546	67356730	28	74395											
TLR3	7098	broad.mit.edu	37	chr4	187004157	187004157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagaagtacttgacctgggCcttaatgaaattgggcaaga	13	10	11	7	0	0	4	0	2	0	2	0	4	0	4	2	2	1	2	2	2	6	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:187004157C>T	ENST00000296795.2	+	4	1421	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	TLR3_ENST00000504367.1_Silent_p.G162G	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	439					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGACCTGGGCCTTAATGAAA	0.408													12	42					0	0	0	0	T	187004157	C	T	187004157	2	4	386	1	0	0	0	0	0	0	0	1	16046	726	26	4		4	TLR3	4	187004157	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	63206611	187004157	4150119	29	74396											
FAM153A	285596	broad.mit.edu	37	chr5	177163583	177163583	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccagaatacgtacattCggccagtgtgtctgggtccc	8	10	11	12	2	1	1	0	0	1	1	4	2	3	1	3	2	2	1	3	2	3	3	rs143733594		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr5:177163583C>A	ENST00000440605.3	-	11	713	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	FAM153A_ENST00000510276.1_Nonsense_Mutation_p.E144*|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	144								p.E144K(3)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458													4	71					0.00909568	0.00962043	1	0	A	177163583	C	A	177163583	4	1	386	1	0	0	0	0	0	1	0	0	5501	893	31	3	542	3	FAM153A	5	177163583	Nonsense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		177163583	3751677	30	74397											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726721	25726721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagacttagacttggcgCgtgcttttcctccctgcttc	5	13	10	13	3	0	2	0	0	0	2	3	3	2	2	2	1	3	2	2	1	1	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:25726721C>T	ENST00000297012.3	-	1	69	c.35G>A	c.(34-36)cGc>cAc	p.R12H		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	12					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R12P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AGACTTGGCGCGTGCTTTTCC	0.527													11	62					0	0	0	0	T	25726721	C	T	25726721	3	4	386	1	0	0	0	0	1	0	0	0	7178	768	27	1	364	1	HIST1H2AA	6	25726721	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		25726721	145388346	31	74398											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027283	26027283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggtcacggcgtcccggatCacgttctccagaaacacctt	9	9	9	14	4	3	1	2	0	1	1	5	2	4	2	3	3	1	1	3	3	2	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:26027283C>T	ENST00000377364.3	-	1	197	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGTCCCGGATCACGTTCTCCA	0.572											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	70					0	0	0	0	T	26027283	C	T	26027283	2	4	386	1	0	0	0	0	0	0	0	1	7216	813	29	2		2	HIST1H4B	6	26027283	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	300562	26027283	145087784	32	74399											
DST	667	broad.mit.edu	37	chr6	56474052	56474052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcaacctaattcctgtgtCatagtcaatgaggcctctta	12	12	7	10	0	3	1	2	1	1	0	4	1	4	1	3	1	2	1	3	1	6	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:56474052C>G	ENST00000370754.5	-	39	5274	c.5275G>C	c.(5275-5277)Gac>Cac	p.D1759H	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.D1581H|DST_ENST00000446842.2_Missense_Mutation_p.D1255H|DST_ENST00000312431.6_Missense_Mutation_p.D1581H|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D1581H			Q03001	DYST_HUMAN	dystonin	1581					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTCCTGTGTCATAGTCAATG	0.403													14	300					0	0	0	0	G	56474052	C	G	56474052	3	3	386	1	0	0	0	0	1	0	0	0	4819	841	29	2		2	DST	6	56474052	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	30446769	56474052	114641015	33	74400											
HTR1B	3351	broad.mit.edu	37	chr6	78172633	78172633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatgaccgccgccctcttgGgagtccttttagctgagtac	6	12	10	13	2	2	2	1	2	1	0	3	3	3	3	4	1	2	2	4	1	2	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:78172633G>A	ENST00000369947.2	-	1	857	c.488C>T	c.(487-489)cCc>cTc	p.P163L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	163					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CGCCCTCTTGGGAGTCCTTTT	0.602													4	47					0	0	0	0	A	78172633	G	A	78172633	3	1	386	1	0	0	0	0	1	0	0	0	7490	1232	43	4	688	4	HTR1B	6	78172633	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	21698581	78172633	92942434	34	74401											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578310	90578310	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttgggatgtggggtgatAcaggtagatgaagataattg	12	11	16	2	0	0	4	0	2	0	2	0	6	0	5	0	4	1	1	0	4	4	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:90578310A>T	ENST00000551025.1	+	0	6738							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTGGGGTGATACAGGTAGATG	0.403													6	34					0	0	0	0	T	90578310	A	T	90578310	1	4	386	0	1	0	0	0	0	0	0	0	2703	381	14	5		5	CASP8AP2	6	90578310	RNA	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	12405677	90578310	80536757	35	74402											
MED23	9439	broad.mit.edu	37	chr6	131915244	131915244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataaaaaggatattatcgActagtctgccaatcaatctg	16	11	6	8	1	3	0	1	0	2	0	4	2	3	1	1	1	1	0	1	1	9	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:131915244A>G	ENST00000403834.3	-	23	3418	c.3245T>C	c.(3244-3246)gTc>gCc	p.V1082A	MED23_ENST00000368058.1_Missense_Mutation_p.V1082A|MED23_ENST00000368060.3_Missense_Mutation_p.V1076A|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368068.3_Missense_Mutation_p.V1076A|MED23_ENST00000354577.4_Missense_Mutation_p.V1082A|MED23_ENST00000545957.1_Missense_Mutation_p.V717A			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1076					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GATATTATCGACTAGTCTGCC	0.318													4	47					0	0	0	0	G	131915244	A	G	131915244	3	3	386	1	0	0	0	0	1	0	0	0	9510	275	10	5	914	5	MED23	6	131915244	Missense_Mutation	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	41336934	131915244	39199823	36	74403											
KIAA1244	57221	broad.mit.edu	37	chr6	138576730	138576730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcaggctgctcctgcActgcgccggccctgagcgga	6	6	15	14	3	1	1	1	1	0	0	2	4	2	3	3	4	4	3	3	4	0	0			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:138576730A>G	ENST00000251691.4	+	10	1094	c.928A>G	c.(928-930)Act>Gct	p.T310A		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	310					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCTCCTGCACTGCGCCGGC	0.642													9	77					0	0	0	0	G	138576730	A	G	138576730	3	3	386	1	0	0	0	0	1	0	0	0	8268	159	6	5	966	5	KIAA1244	6	138576730	Missense_Mutation	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	6661486	138576730	32538337	37	74404											
STX11	8676	broad.mit.edu	37	chr6	144508521	144508521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcaacgtacaaaagacgGtcgactacaccggccaggcc	13	4	10	14	4	1	1	1	0	0	1	2	2	1	1	3	3	4	2	3	3	5	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:144508521G>A	ENST00000367568.4	+	2	940	c.757G>A	c.(757-759)Gtc>Atc	p.V253I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	253	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACAAAAGACGGTCGACTACAC	0.627									Familial Hemophagocytic Lymphohistiocytosis				4	30					0	0	0	0	A	144508521	G	A	144508521	3	1	386	1	0	0	0	0	1	0	0	0	15427	1261	44	4	759	4	STX11	6	144508521	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	5931791	144508521	26606546	38	74405											
ACAT2	39	broad.mit.edu	37	chr6	160199708	160199708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taggtcaatattgaaggaggGgctatagccttgggccaccc	10	9	13	9	0	1	1	1	1	0	0	1	2	1	2	3	5	1	1	3	5	6	6			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:160199708G>A	ENST00000367048.4	+	9	2801	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	ACAT2_ENST00000472052.1_3'UTR|TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000541436.1_Silent_p.G376G	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	347						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAGGAGGGGCTATAGCCT	0.443													16	109					0	0	0	0	A	160199708	G	A	160199708	2	1	386	1	0	0	0	0	0	0	0	1	122	1219	43	4		4	ACAT2	6	160199708	Silent	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	15691187	160199708	10915359	39	74406											
NEUROD6	63974	broad.mit.edu	37	chr7	31378675	31378675	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctaggcaacccattttCatcttcctcttccctgtctt	5	17	3	16	0	5	0	1	0	4	0	7	0	7	0	4	1	1	1	4	1	2	7			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:31378675C>A	ENST00000297142.3	-	2	530	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	70					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E70*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AACCCAttttcatcttcctct	0.483													24	169					5.35356e-11	6.19886e-11	1	0	A	31378675	C	A	31378675	4	1	386	1	0	0	0	0	0	1	0	0	10421	835	29	2	809	2	NEUROD6	7	31378675	Nonsense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		31378675	127759988	40	74407											
DBNL	28988	broad.mit.edu	37	chr7	44100510	44100510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaactacgtggagctcattGagtgaggctgagggcacatc	10	8	13	10	1	1	3	1	3	0	0	2	4	1	4	1	3	3	3	1	3	2	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:44100510G>C	ENST00000494774.1	+	13	1312	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	DBNL_ENST00000448521.1_Missense_Mutation_p.E430Q|DBNL_ENST00000468694.1_Missense_Mutation_p.E439Q|DBNL_ENST00000490734.2_Missense_Mutation_p.E336Q|DBNL_ENST00000440166.1_Missense_Mutation_p.E327Q|DBNL_ENST00000456905.1_Missense_Mutation_p.E382Q|DBNL_ENST00000452943.1_Missense_Mutation_p.E406Q|DBNL_ENST00000497184.1_3'UTR	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	430					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGAGCTCATTGAGTGAGGCTG	0.572													3	21					0	0	0	0	C	44100510	G	C	44100510	3	2	386	1	0	0	0	0	1	0	0	0	4288	1291	45	2	1365	2	DBNL	7	44100510	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	12721835	44100510	115038153	41	74408											
GRB10	2887	broad.mit.edu	37	chr7	50674050	50674050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccactggcgtcgagaacGgggacagcaaggccttcctc	9	7	12	13	3	0	1	0	0	0	1	3	3	1	2	3	4	3	1	3	4	3	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:50674050G>A	ENST00000403097.1	-	13	2018	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L	GRB10_ENST00000439599.1_Missense_Mutation_p.P413L|GRB10_ENST00000401949.1_Missense_Mutation_p.P419L|GRB10_ENST00000398810.2_Missense_Mutation_p.P361L|GRB10_ENST00000335866.3_Missense_Mutation_p.P361L|GRB10_ENST00000402578.1_Missense_Mutation_p.P361L|GRB10_ENST00000398812.2_Missense_Mutation_p.P419L|GRB10_ENST00000406641.1_Missense_Mutation_p.P361L|GRB10_ENST00000402497.1_Missense_Mutation_p.P361L|GRB10_ENST00000357271.5_Missense_Mutation_p.P373L|GRB10_ENST00000407526.1_Missense_Mutation_p.P361L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	419					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CGTCGAGAACGGGGACAGCAA	0.527									Russell-Silver syndrome				17	97					0	0	0	0	A	50674050	G	A	50674050	3	1	386	1	0	0	0	0	1	0	0	0	6806	1116	39	1	552	1	GRB10	7	50674050	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	6573540	50674050	108464613	42	74409											
ABCB1	5243	broad.mit.edu	37	chr7	87229508	87229508	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagatccattccgaccTgaagagaaaccgcagctcat	13	8	7	13	2	2	3	2	1	0	2	4	5	4	3	4	0	2	2	4	0	3	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:87229508T>C	ENST00000265724.3	-	3	412		c.e3-2			NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 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			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)	CATTCCGACCTGAAGAGAAAC	0.468													3	22					0	0	0	0	C	87229508	T	C	87229508	5	2	386	1	0	0	0	0	0	0	1	0	40	1594	55	5		5	ABCB1	7	87229508	Splice_Site	SNP	T	TCGA-DQ-5630-01A-01D-1870-08	36555458	87229508	71909155	43	74410											
DOCK4	9732	broad.mit.edu	37	chr7	111368416	111368416	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccaggtggctggatcGcgctgccagaggcttggggg	5	9	17	10	2	1	1	0	0	1	1	3	2	1	2	2	6	1	3	2	6	0	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:111368416G>A	ENST00000428084.1	-	53	6114	c.5842C>T	c.(5842-5844)Cga>Tga	p.R1948*	DOCK4_ENST00000437633.1_Nonsense_Mutation_p.R1939*|DOCK4_ENST00000494651.2_Nonsense_Mutation_p.R822*			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1939	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGCTGGATCGCGCTGCCAGA	0.692													6	38					0	0	0	0	A	111368416	G	A	111368416	4	1	386	1	0	0	0	0	0	1	0	0	4725	1095	38	1	89	1	DOCK4	7	111368416	Nonsense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	24138908	111368416	47770247	44	74411											
FEZF1	389549	broad.mit.edu	37	chr7	121942271	121942271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaacccttgccgcacgtgGggcaggtgaaaggcttcttg	9	8	14	10	2	1	2	0	1	1	1	1	2	1	2	2	4	2	3	2	4	2	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:121942271G>A	ENST00000442488.2	-	4	1275	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	FEZF1_ENST00000331178.4_Missense_Mutation_p.P399L|FEZF1_ENST00000427185.2_Missense_Mutation_p.P353L	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	403					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCCGCACGTGGGGCAGGTGAA	0.562													20	112					0	0	0	0	A	121942271	G	A	121942271	3	1	386	1	0	0	0	0	1	0	0	0	5870	1232	43	4	223	4	FEZF1	7	121942271	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	10573855	121942271	37196392	45	74412											
PXDNL	137902	broad.mit.edu	37	chr8	52322037	52322037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccggttggagcagtttGgcagaggcctgcgagctgtg	8	8	16	9	2	0	1	0	0	0	1	0	3	0	2	2	4	4	5	2	4	1	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:52322037G>T	ENST00000356297.4	-	17	2247	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.P716Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	716					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGCAGTTTGGCAGAGGCCT	0.622													12	27					7.03913e-09	7.98251e-09	1	0	T	52322037	G	T	52322037	3	4	386	1	0	0	0	0	1	0	0	0	12930	1348	47	4	2272	4	PXDNL	8	52322037	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08		52322037	94041985	46	74413											
GRHL2	79977	broad.mit.edu	37	chr8	102589743	102589743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagcagagggtccttgaCattggtaagttgaccttgac	10	10	13	8	1	0	4	0	3	0	1	1	5	1	4	2	2	1	3	2	2	2	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:102589743C>T	ENST00000251808.3	+	7	1337	c.999C>T	c.(997-999)gaC>gaT	p.D333D	GRHL2_ENST00000395927.1_Silent_p.D317D	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	333						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGTCCTTGACATTGGTAAGT	0.483													7	83					0	0	0	0	T	102589743	C	T	102589743	2	4	386	1	0	0	0	0	0	0	0	1	6814	477	17	4		4	GRHL2	8	102589743	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	50267706	102589743	43774279	47	74414											
ZHX1	11244	broad.mit.edu	37	chr8	124266308	124266308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctatttccattttctcttCctttaaagcttttgatttct	7	23	2	9	0	3	1	0	1	3	0	6	1	5	1	2	0	1	1	2	0	3	10			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:124266308C>G	ENST00000395571.3	-	3	2496	c.1879G>C	c.(1879-1881)Gaa>Caa	p.E627Q	ZHX1_ENST00000297857.2_Missense_Mutation_p.E627Q|ZHX1_ENST00000522655.1_Missense_Mutation_p.E627Q|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	627					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTCTCTTCCTTTAAAGCT	0.383													3	61					0	0	0	0	G	124266308	C	G	124266308	3	3	386	1	0	0	0	0	1	0	0	0	17770	864	30	2	746	2	ZHX1	8	124266308	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	21676565	124266308	22097714	48	74415											
ACO1	48	broad.mit.edu	37	chr9	32448924	32448924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgtcctggccgagagctacGagcgcattcaccgcagtaac	9	6	11	15	5	1	1	1	0	0	1	2	3	2	1	4	1	4	4	4	1	2	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:32448924G>C	ENST00000379923.1	+	21	2607	c.2401G>C	c.(2401-2403)Gag>Cag	p.E801Q	ACO1_ENST00000541043.1_Missense_Mutation_p.E702Q|ACO1_ENST00000309951.5_Missense_Mutation_p.E801Q	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	801					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGAGAGCTACGAGCGCATTCA	0.488													4	61					0	0	0	0	C	32448924	G	C	32448924	3	2	386	1	0	0	0	0	1	0	0	0	146	1059	37	3	2475	3	ACO1	9	32448924	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08		32448924	108764507	49	74416											
TAF1L	138474	broad.mit.edu	37	chr9	32634244	32634244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgcaccctgaggttttGtccctttgtgtttgatatcc	4	17	10	10	0	0	2	0	2	0	0	2	2	2	2	3	2	1	4	3	2	1	6			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:32634244G>C	ENST00000242310.4	-	1	1423	c.1334C>G	c.(1333-1335)aCa>aGa	p.T445R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	445					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAGGTTTTGTCCCTTTGTG	0.483													11	180					0	0	0	0	C	32634244	G	C	32634244	3	2	386	1	0	0	0	0	1	0	0	0	15614	1377	48	4	4150	4	TAF1L	9	32634244	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	185320	32634244	108579187	50	74417											
HIATL1	84641	broad.mit.edu	37	chr9	97218593	97218593	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaatcagtgccctcgtctCtcggaatgcagagtcagatc	9	9	11	12	2	3	2	2	0	1	2	7	3	3	3	1	2	2	2	1	2	2	0			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:97218593C>G	ENST00000375344.3	+	10	1369	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	367				S -> T (in Ref. 3; BAB55274).	transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GCCCTCGTCTCTCGGAATGCA	0.577													4	80					0	0	0	0	G	97218593	C	G	97218593	3	3	386	1	0	0	0	0	1	0	0	0	7148	913	32	2	1138	2	HIATL1	9	97218593	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	64584349	97218593	43994838	51	74418											
ZFP37	7539	broad.mit.edu	37	chr9	115818942	115818942	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtctctggctttgtcagAatctggacgccgctggagac	7	10	13	11	3	3	2	1	0	2	2	4	4	3	3	1	4	0	2	1	4	1	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:115818942A>C	ENST00000374227.3	-	1	54	c.27T>G	c.(25-27)atT>atG	p.I9M	ZFP37_ENST00000555206.1_Missense_Mutation_p.I9M|ZFP37_ENST00000553380.1_Missense_Mutation_p.I9M			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	9						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCTTTGTCAGAATCTGGACGC	0.682													9	63					0	0	0	0	C	115818942	A	C	115818942	3	2	386	1	0	0	0	0	1	0	0	0	17743	242	9	5	1881	5	ZFP37	9	115818942	Missense_Mutation	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	18600349	115818942	25394489	52	74419											
BRD3	8019	broad.mit.edu	37	chr9	136917540	136917540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatagtccccatatccattGggtttttaattattttatga	11	19	5	6	0	0	1	0	1	0	0	2	1	2	1	3	1	0	1	3	1	6	10			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:136917540G>A	ENST00000303407.7	-	3	424	c.239C>T	c.(238-240)cCa>cTa	p.P80L	BRD3_ENST00000371834.2_Missense_Mutation_p.P80L|BRD3_ENST00000357885.2_Missense_Mutation_p.P80L	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	80	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CATATCCATTGGGTTTTTAAT	0.333			T	C15orf55	lethal midline carcinoma of young people								5	66					0	0	0	0	A	136917540	G	A	136917540	3	1	386	1	0	0	0	0	1	0	0	0	1511	1348	47	4	1981	4	BRD3	9	136917540	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	21098598	136917540	4295891	53	74420											
KIAA1462	57608	broad.mit.edu	37	chr10	30336618	30336618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatgcccgttctgcaggcCctggcctgctcgtgtcccag	3	10	11	17	2	2	0	1	0	1	0	4	0	3	0	4	2	3	3	4	2	0	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:30336618C>T	ENST00000375377.1	-	2	225	c.124G>A	c.(124-126)Ggc>Agc	p.G42S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	42										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTCTGCAGGCCCTGGCCTGCT	0.637													7	47					0	0	0	0	T	30336618	C	T	30336618	3	4	386	1	0	0	0	0	1	0	0	0	8285	623	22	4	3967	4	KIAA1462	10	30336618	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		30336618	105198129	54	74421											
ANK3	288	broad.mit.edu	37	chr10	61836161	61836161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaaagaatggcttgtatGagtaagtggtggggagggat	13	10	17	1	0	0	3	0	1	0	2	0	5	0	5	0	5	0	3	0	5	6	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:61836161G>A	ENST00000280772.1	-	37	4669	c.4478C>T	c.(4477-4479)tCa>tTa	p.S1493L	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1493					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCTTGTATGAGTAAGTGGT	0.418													8	36					0	0	0	0	A	61836161	G	A	61836161	3	1	386	1	0	0	0	0	1	0	0	0	622	1294	45	2	8996	2	ANK3	10	61836161	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	31499543	61836161	73698586	55	74422											
TDRD1	56165	broad.mit.edu	37	chr10	115980379	115980379	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagccataacaagattccaGatgtgtgttgctgggataaa	14	10	11	6	0	0	2	0	0	0	2	1	4	1	3	2	1	3	2	2	1	5	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:115980379G>A	ENST00000251864.2	+	19	2700	c.2547G>A	c.(2545-2547)caG>caA	p.Q849Q	TDRD1_ENST00000369282.1_Silent_p.Q849Q|TDRD1_ENST00000369281.2_Silent_p.Q735Q|TDRD1_ENST00000369280.1_Silent_p.Q849Q|TDRD1_ENST00000422662.1_Silent_p.Q453Q	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	849					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.Q849H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAGATTCCAGATGTGTGTTG	0.388													4	78					0	0	0	0	A	115980379	G	A	115980379	2	1	386	1	0	0	0	0	0	0	0	1	15824	933	33	2		2	TDRD1	10	115980379	Silent	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	54144218	115980379	19554368	56	74423											
B4GALNT4	338707	broad.mit.edu	37	chr11	379925	379925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggctgcgctgcacgcgCgcaccggggactcgcgtttc	5	7	14	15	7	0	0	0	0	0	0	2	1	0	1	1	3	2	5	1	3	0	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:379925C>T	ENST00000329962.6	+	16	2548	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	850						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.R850C(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)		GCTGCACGCGCGCACCGGGGA	0.687													6	51					0	0	0	0	T	379925	C	T	379925	3	4	386	1	0	0	0	0	1	0	0	0	1273	768	27	1	2610	1	B4GALNT4	11	379925	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		379925	134626591	57	74424											
TRIM22	10346	broad.mit.edu	37	chr11	5730360	5730360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagacaagtgaaaactgtaCgcacctgcacatttaagaat	17	8	8	8	1	0	3	0	1	0	2	0	4	0	3	1	0	3	3	1	0	6	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:5730360C>T	ENST00000379965.3	+	8	1256	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	327	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAAACTGTACGCACCTGCAC	0.413													8	79					0	0	0	0	T	5730360	C	T	5730360	3	4	386	1	0	0	0	0	1	0	0	0	16591	536	19	1	1005	1	TRIM22	11	5730360	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	5350435	5730360	129276156	58	74425											
ELF5	2001	broad.mit.edu	37	chr11	34515223	34515223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacatggcgcttagtccagTattcagggtggactgatgtc	9	11	12	9	1	1	1	1	1	0	0	3	2	2	2	1	3	0	2	1	3	2	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:34515223T>C	ENST00000312319.2	-	3	417	c.188A>G	c.(187-189)tAc>tGc	p.Y63C	ELF5_ENST00000532417.1_Missense_Mutation_p.Y53C|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000528709.1_Intron|ELF5_ENST00000257832.2_Missense_Mutation_p.Y53C	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	63	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTTAGTCCAGTATTCAGGGTG	0.532											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	29					0	0	0	0	C	34515223	T	C	34515223	3	2	386	1	0	0	0	0	1	0	0	0	5095	1638	57	5	629	5	ELF5	11	34515223	Missense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08	28784863	34515223	100491293	59	74426											
OR8I2	120586	broad.mit.edu	37	chr11	55861330	55861330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgtgacaccacagctCttttagcactctcctgtgta	7	17	6	11	0	2	1	0	1	2	0	3	1	2	1	2	0	2	3	2	0	2	6			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:55861330C>A	ENST00000302124.2	+	1	578	c.547C>A	c.(547-549)Ctt>Att	p.L183I	OR8I2_ENST00000560768.1_Missense_Mutation_p.L183I			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L183F(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCACAGCTCTTTTAGCACT	0.438													15	118					2.31682e-05	2.5485e-05	1	0	A	55861330	C	A	55861330	3	1	386	1	0	0	0	0	1	0	0	0	11311	913	32	2	549	2	OR8I2	11	55861330	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	21346107	55861330	79145186	60	74427											
HEPHL1	341208	broad.mit.edu	37	chr11	93778850	93778850	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttttagacttgcaacctTatttctcgaaagagggccca	11	13	7	10	1	1	2	0	0	1	2	2	3	1	2	2	1	3	1	2	1	5	6			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:93778850T>G	ENST00000315765.9	+	2	190	c.182T>G	c.(181-183)tTa>tGa	p.L61*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	61	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTTGCAACCTTATTTCTCGAA	0.373													3	16					0	0	0	0	G	93778850	T	G	93778850	4	3	386	1	0	0	0	0	0	1	0	0	7105	1764	61	5	188	5	HEPHL1	11	93778850	Nonsense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08	37917520	93778850	41227666	61	74428											
KCNJ8	3764	broad.mit.edu	37	chr12	21926400	21926400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaaagcgtccttgctcacGgatgttcttatgcgccaggt	8	12	11	10	3	2	1	1	0	1	1	3	2	3	2	2	2	3	2	2	2	3	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:21926400G>A	ENST00000240662.2	-	2	496	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	51						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CCTTGCTCACGGATGTTCTTA	0.602											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	73					0	0	0	0	A	21926400	G	A	21926400	3	1	386	1	0	0	0	0	1	0	0	0	8109	1116	39	1	1131	1	KCNJ8	12	21926400	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08		21926400	111925495	62	74429											
LARP4	113251	broad.mit.edu	37	chr12	50822793	50822793	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttgtgaaaccacaagaaAtactacaggcattgaagaat	18	9	7	7	0	1	4	0	2	1	2	1	4	1	4	1	1	3	1	1	1	7	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:50822793A>G	ENST00000398473.2	+	3	354	c.242A>G	c.(241-243)aAt>aGt	p.N81S	LARP4_ENST00000347328.5_Missense_Mutation_p.N81S|LARP4_ENST00000522085.1_Missense_Mutation_p.N81S|LARP4_ENST00000518561.1_Missense_Mutation_p.N11S|LARP4_ENST00000518444.1_Missense_Mutation_p.N80S|LARP4_ENST00000429001.3_Missense_Mutation_p.N87S|LARP4_ENST00000293618.8_Missense_Mutation_p.N81S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	81							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCACAAGAAATACTACAGGC	0.333													10	78					0	0	0	0	G	50822793	A	G	50822793	3	3	386	1	0	0	0	0	1	0	0	0	8683	101	4	5	252	5	LARP4	12	50822793	Missense_Mutation	SNP	A	TCGA-DQ-5630-01A-01D-1870-08	28896393	50822793	83029102	63	74430											
OSBPL8	114882	broad.mit.edu	37	chr12	76750470	76750470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaatgtctcccagttctaTtcctttctttcttcttgtac	5	20	4	12	0	5	1	0	1	5	0	7	1	6	1	2	0	1	2	2	0	3	8			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:76750470T>C	ENST00000261183.3	-	23	2952	c.2473A>G	c.(2473-2475)Ata>Gta	p.I825V	OSBPL8_ENST00000393250.4_Missense_Mutation_p.I783V|OSBPL8_ENST00000393249.2_Missense_Mutation_p.I783V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	825					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCCAGTTCTATTCCTTTCTTT	0.294													12	70					0	0	0	0	C	76750470	T	C	76750470	3	2	386	1	0	0	0	0	1	0	0	0	11354	1493	52	5	204	5	OSBPL8	12	76750470	Missense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08	25927677	76750470	57101425	64	74431											
LCP1	3936	broad.mit.edu	37	chr13	46732708	46732708	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctctgaagtaccaccgaTtgcacaaatcccttccttct	9	12	5	15	1	2	1	0	1	2	0	4	2	4	1	4	0	3	3	4	0	3	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr13:46732708T>A	ENST00000398576.2	-	7	695	c.307A>T	c.(307-309)Atc>Ttc	p.I103F	LCP1_ENST00000323076.2_Missense_Mutation_p.I103F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	103					regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GTACCACCGATTGCACAAATC	0.423			T	BCL6	NHL								20	65					0	0	0	0	A	46732708	T	A	46732708	3	1	386	1	0	0	0	0	1	0	0	0	8744	1493	52	5	1628	5	LCP1	13	46732708	Missense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08		46732708	68437170	65	74432											
KIAA0391	9692	broad.mit.edu	37	chr14	35735973	35735973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actagccaaacggaatctgcGactgctggtcctaggccgga	10	7	12	12	3	1	0	0	0	1	0	2	3	2	2	3	4	4	1	3	4	4	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:35735973G>C	ENST00000557565.1	+	6	1697	c.1316G>C	c.(1315-1317)cGa>cCa	p.R439P	KIAA0391_ENST00000534898.4_Missense_Mutation_p.R439P|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R423P|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R344P|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R423P|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R67P|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R344P			O15091	MRRP3_HUMAN	KIAA0391	439					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGGAATCTGCGACTGCTGGTC	0.478													3	177					0	0	0	0	C	35735973	G	C	35735973	3	2	386	1	0	0	0	0	1	0	0	0	8223	1058	37	3	1334	3	KIAA0391	14	35735973	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08		35735973	71613567	66	74433											
INSM2	84684	broad.mit.edu	37	chr14	36004166	36004166	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtgaccacatcccctgtCctgggcctgaagatcaagga	10	7	12	12	0	1	3	1	2	0	1	3	5	3	4	5	3	0	0	5	3	2	0			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:36004166C>T	ENST00000307169.3	+	1	919	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CATCCCCTGTCCTGGGCCTGA	0.662													8	23					0	0	0	0	T	36004166	C	T	36004166	2	4	386	1	0	0	0	0	0	0	0	1	7825	842	30	2		2	INSM2	14	36004166	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	268193	36004166	71345374	67	74434											
PSMC1	5700	broad.mit.edu	37	chr14	90730032	90730032	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcaaaagtggatgatctGagggggaccccgatgtcagt	12	8	14	7	1	3	3	2	2	1	1	3	6	3	5	2	3	0	0	2	3	2	0			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:90730032G>C	ENST00000261303.8	+	5	409	c.306G>C	c.(304-306)ctG>ctC	p.L102L	PSMC1_ENST00000543772.2_Silent_p.L29L	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGGATGATCTGAGGGGGACCC	0.443													9	71					0	0	0	0	C	90730032	G	C	90730032	2	2	386	1	0	0	0	0	0	0	0	1	12764	1277	45	2		2	PSMC1	14	90730032	Silent	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	54725866	90730032	16619508	68	74435											
MEIS2	4212	broad.mit.edu	37	chr15	37184422	37184422	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaacattgggatctacAgaatttaacattgtggggct	11	11	10	9	1	1	1	0	0	1	1	1	2	1	2	2	3	3	1	2	3	4	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:37184422A>G	ENST00000338564.5	-	13	1811	c.1365T>C	c.(1363-1365)tcT>tcC	p.S455S	MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000561208.1_Silent_p.S462S|MEIS2_ENST00000382766.2_Silent_p.S455S|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	462					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGGGATCTACAGAATTTAACA	0.483													46	301					0	0	0	0	G	37184422	A	G	37184422	2	3	386	1	0	0	0	0	0	0	0	1	9537	175	7	5		5	MEIS2	15	37184422	Silent	SNP	A	TCGA-DQ-5630-01A-01D-1870-08		37184422	65346970	69	74436											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51397319	51397319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagtttcccctttggctCtgcctcacagagtgtggaaa	8	11	9	13	0	2	1	1	0	1	1	3	2	3	2	4	2	1	2	4	2	1	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:51397319C>G	ENST00000327536.5	-	1	154	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	19										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CCCTTTGGCTCTGCCTCACAG	0.512													5	119					0	0	0	0	G	51397319	C	G	51397319	3	3	386	1	0	0	0	0	1	0	0	0	16373	922	32	2	835	2	TNFAIP8L3	15	51397319	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	14212897	51397319	51134073	70	74437											
SLTM	79811	broad.mit.edu	37	chr15	59186670	59186670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtccatgcagctcagtgcGatgaagatgtgcaatacacc	11	9	10	11	1	1	2	1	1	0	1	2	3	2	2	2	0	5	3	2	0	3	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:59186670G>A	ENST00000380516.2	-	10	1426	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	SLTM_ENST00000536328.1_Missense_Mutation_p.R16C	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	447	RRM.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCAGTGCGATGAAGATGT	0.413													7	105					0	0	0	0	A	59186670	G	A	59186670	3	1	386	1	0	0	0	0	1	0	0	0	14842	1058	37	1	1813	1	SLTM	15	59186670	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	7789351	59186670	43344722	71	74438											
TBC1D2B	23102	broad.mit.edu	37	chr15	78322394	78322394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttcttcctgtactaTggactcctctaggtccttag	5	18	6	12	0	3	0	0	0	3	0	6	1	6	1	3	2	1	1	3	2	4	8			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:78322394T>C	ENST00000409931.3	-	4	873	c.802A>G	c.(802-804)Ata>Gta	p.I268V	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.I268V			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	268						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCCTGTACTATGGACTCCTCT	0.453													9	71					0	0	0	0	C	78322394	T	C	78322394	3	2	386	1	0	0	0	0	1	0	0	0	15710	1464	51	5	2129	5	TBC1D2B	15	78322394	Missense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08	19135724	78322394	24208998	72	74439											
LONP2	83752	broad.mit.edu	37	chr16	48303932	48303932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttatttgacagaccgcCtggacattagggcagcccgg	8	9	14	10	2	0	2	0	1	0	1	0	3	0	3	3	4	1	2	3	4	2	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:48303932C>G	ENST00000285737.4	+	7	1081	c.988C>G	c.(988-990)Ctg>Gtg	p.L330V	LONP2_ENST00000535754.1_Missense_Mutation_p.L286V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	330					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACAGACCGCCTGGACATTAG	0.378													8	42					0	0	0	0	G	48303932	C	G	48303932	3	3	386	1	0	0	0	0	1	0	0	0	8957	680	24	4	1014	4	LONP2	16	48303932	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		48303932	42050821	73	74440											
ZNF276	92822	broad.mit.edu	37	chr16	89804234	89804234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgcggaactatatctgtGacgaatgtggacaaaccttc	12	10	11	8	2	1	1	0	1	1	0	2	4	1	3	1	3	3	0	1	3	5	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:89804234G>C	ENST00000289816.5	+	10	1582	c.1270G>C	c.(1270-1272)Gac>Cac	p.D424H	ZNF276_ENST00000443381.2_Missense_Mutation_p.D499H|ZNF276_ENST00000568064.1_Missense_Mutation_p.D407H|ZNF276_ENST00000446326.2_Missense_Mutation_p.D285H|FANCA_ENST00000389301.3_3'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTATATCTGTGACGAATGTGG	0.557													3	72					0	0	0	0	C	89804234	G	C	89804234	3	2	386	1	0	0	0	0	1	0	0	0	17906	1290	45	2	1533	2	ZNF276	16	89804234	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	41500302	89804234	550519	74	74441											
POLR2A	5430	broad.mit.edu	37	chr17	7416619	7416619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccacctctcccagctactCacccacttcccctagctact	7	9	3	22	0	2	0	1	0	1	0	4	0	3	0	6	0	4	2	6	0	3	4			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7416619C>T	ENST00000322644.6	+	29	5435	c.5036C>T	c.(5035-5037)tCa>tTa	p.S1679L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1679	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II 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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				cccagctactcacccacttcc	0.617													3	13					0	0	0	0	T	7416619	C	T	7416619	3	4	386	1	0	0	0	0	1	0	0	0	12286	838	29	2	5150	2	POLR2A	17	7416619	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		7416619	73778591	75	74442											
TP53	7157	broad.mit.edu	37	chr17	7576868	7576886	+	Frame_Shift_Del	DEL	TTCTCCATCCAGTGGTTTC	TTCTCCATCCAGTGGTTTC	-																															agtacctgaagggtgaaataTtctccatccagtggtttctt																								rs121912659		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7576868_7576886delTTCTCCATCCAGTGGTTTC	ENST00000420246.2	-	9	1092_1110	c.960_978delGAAACCACTGGATGGAGAA	c.(958-978)aafs	p.KKPLDGE320fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.KKPLDGE320fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	320	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E326*(4)|p.K321fs*24(4)|p.P322fs*23(3)|p.K320N(3)|p.K321_P322insK(2)|p.P318fs*15(2)|p.D324E(2)|p.P322L(2)|p.P322R(2)|p.K321*(2)|p.G325*(1)|p.S315fs*22(1)|p.L323fs*22(1)|p.K321K(1)|p.P318fs*21(1)|p.Y327fs*10(1)|p.D324fs*29(1)|p.L323V(1)|p.L323R(1)|p.?(1)|p.L323P(1)|p.D324fs*21(1)|p.G325fs*23(1)|p.L308fs*15(1)|p.L323G(1)|p.L323M(1)|p.K320K(1)|p.G325A(1)|p.D324D(1)|p.G325E(1)|p.E326K(1)|p.D324S(1)|p.G325V(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)		GGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCT	0.452		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)			8	86	---	---	---	---					-	7576886	TTCTCCATCCAGTGGTTTC	-	7576868	7	5	386	1	0	1	0	1	0	0	0	0	16476	1490	52	0	304	0	TP53	17	7576868	Frame_Shift_Del	DEL	TTCTCCATCCAGTGGTTTC	TCGA-DQ-5630-01A-01D-1870-08	160249	7576868	73618342	76	74443											
CHD3	1107	broad.mit.edu	37	chr17	7806800	7806800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatttggcactgaagagCtattcaaggatgaaaacgag	16	9	10	6	1	2	3	2	2	0	1	2	5	2	4	0	2	2	2	0	2	6	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7806800C>G	ENST00000380358.4	+	23	3884	c.3883C>G	c.(3883-3885)Cta>Gta	p.L1295V	CHD3_ENST00000330494.7_Missense_Mutation_p.L1236V|CHD3_ENST00000358181.4_Missense_Mutation_p.L1236V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1236					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACTGAAGAGCTATTCAAGGA	0.542													7	16					0	0	0	0	G	7806800	C	G	7806800	3	3	386	1	0	0	0	0	1	0	0	0	3355	796	28	4	4077	4	CHD3	17	7806800	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	229932	7806800	73388410	77	74444											
MYH10	4628	broad.mit.edu	37	chr17	8526560	8526560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagtccagttctctgcGccattgtaaatggaacgatc	9	11	9	12	3	1	0	0	0	1	0	5	3	2	1	3	1	2	2	3	1	3	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:8526560G>C	ENST00000360416.3	-	2	143	c.5C>G	c.(4-6)gCg>gGg	p.A2G	MYH10_ENST00000269243.4_Missense_Mutation_p.A2G|MYH10_ENST00000396239.1_Missense_Mutation_p.A2G|MYH10_ENST00000379980.4_Missense_Mutation_p.A2G	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	2	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGTTCTCTGCGCCATTGTAAA	0.433													4	50					0	0	0	0	C	8526560	G	C	8526560	3	2	386	1	0	0	0	0	1	0	0	0	10100	1087	38	3	6085	3	MYH10	17	8526560	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	719760	8526560	72668650	78	74445											
DGKE	8526	broad.mit.edu	37	chr17	54923105	54923105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataatcctggccaactctCgtagtggaactaatatggga	13	11	9	8	1	1	0	0	0	1	0	3	2	2	2	2	3	2	1	2	3	7	5			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:54923105C>A	ENST00000284061.3	+	4	859	c.679C>A	c.(679-681)Cgt>Agt	p.R227S	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	227	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGCCAACTCTCGTAGTGGAAC	0.363													3	71					0.00909568	0.00962043	1	0	A	54923105	C	A	54923105	3	1	386	1	0	0	0	0	1	0	0	0	4505	884	31	3	689	3	DGKE	17	54923105	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	46396545	54923105	26272105	79	74446											
EVI5L	115704	broad.mit.edu	37	chr19	7914195	7914195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccagggaagcgccttcatCgtgggcctgctcctcatgca	6	9	12	14	2	2	0	2	0	0	0	4	1	3	1	4	2	4	2	4	2	1	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:7914195C>T	ENST00000270530.4	+	5	802	c.606C>T	c.(604-606)atC>atT	p.I202I	EVI5L_ENST00000538904.2_Silent_p.I202I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	202	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCCTTCATCGTGGGCCTGC	0.647													4	46					0	0	0	0	T	7914195	C	T	7914195	2	4	386	1	0	0	0	0	0	0	0	1	5328	874	31	1		1	EVI5L	19	7914195	Silent	SNP	C	TCGA-DQ-5630-01A-01D-1870-08		7914195	51214788	80	74447											
MUC16	94025	broad.mit.edu	37	chr19	9008207	9008207	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccggtccagggtgtaGgggcccagctctttgatgcc	4	11	14	12	1	1	1	0	1	1	0	3	1	3	1	4	4	2	3	4	4	1	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:9008207G>T	ENST00000397910.4	-	41	39548	c.39345C>A	c.(39343-39345)ccC>ccA	p.P13115P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13117	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGGTGTAGGGGCCCAGCT	0.547													5	255					0.014758	0.0154608	1	0	T	9008207	G	T	9008207	2	4	386	1	0	0	0	0	0	0	0	1	10043	987	35	4		4	MUC16	19	9008207	Silent	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	1094012	9008207	50120776	81	74448											
CACNA1A	773	broad.mit.edu	37	chr19	13423556	13423556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacatttttataaacattTcggacataaagagtcctaag	15	13	6	7	2	0	1	0	0	0	1	2	2	1	2	1	1	2	1	1	1	7	8			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:13423556T>C	ENST00000360228.5	-	12	1594	c.1595A>G	c.(1594-1596)gAa>gGa	p.E532G	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TATAAACATTTCGGACATAAA	0.458													3	48					0	0	0	0	C	13423556	T	C	13423556	3	2	386	1	0	0	0	0	1	0	0	0	2563	1783	62	5	6180	5	CACNA1A	19	13423556	Missense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08	4415349	13423556	45705427	82	74449											
KIRREL2	84063	broad.mit.edu	37	chr19	36353394	36353394	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccctctgctccctgcaGacttgctgcccactgtgcgg	3	11	10	17	1	1	1	0	0	1	1	3	1	3	1	4	1	5	3	4	1	0	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:36353394G>T	ENST00000360202.5	+	12	1708		c.e12-1		NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Splice_Site|KIRREL2_ENST00000347900.6_Splice_Site|KIRREL2_ENST00000592409.1_Intron|KIRREL2_ENST00000586102.2_Splice_Site	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTCCCTGCAGACTTGCTGCC	0.617													20	136					3.62473e-10	4.15334e-10	1	0	T	36353394	G	T	36353394	5	4	386	1	0	0	0	0	0	0	1	0	8377	956	33	2	1556	2	KIRREL2	19	36353394	Splice_Site	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	22929838	36353394	22775589	83	74450											
LAIR1	3903	broad.mit.edu	37	chr19	54867583	54867583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgaggtgtccgtctctctgtCcttctcaggaagtccattga	6	13	10	12	2	3	1	1	1	3	0	8	3	6	2	3	2	0	0	3	2	1	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:54867583C>T	ENST00000391743.3	-	8	923	c.643G>A	c.(643-645)Gac>Aac	p.D215N	LAIR1_ENST00000434277.2_Missense_Mutation_p.D232N|LAIR1_ENST00000348231.4_Missense_Mutation_p.D216N|LAIR1_ENST00000391742.2_Missense_Mutation_p.D233N|LAIR1_ENST00000474878.1_Missense_Mutation_p.D215N|LAIR1_ENST00000313038.6_Missense_Mutation_p.D226N			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	233						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTCTCTCTGTCCTTCTCAGGA	0.473													20	100					0	0	0	0	T	54867583	C	T	54867583	3	4	386	1	0	0	0	0	1	0	0	0	8655	855	30	2	174	2	LAIR1	19	54867583	Missense_Mutation	SNP	C	TCGA-DQ-5630-01A-01D-1870-08	18514189	54867583	4261400	84	74451											
LILRB1	10859	broad.mit.edu	37	chr19	55143590	55143590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccgtgggccccgtgaGcccgagtcgcaggtggtggt	3	9	16	13	4	1	1	0	1	1	0	3	2	1	1	4	4	1	1	4	4	0	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:55143590G>T	ENST00000396331.1	+	6	920	c.563G>T	c.(562-564)aGc>aTc	p.S188I	LILRB1_ENST00000396327.3_Missense_Mutation_p.S188I|LILRB1_ENST00000434867.2_Missense_Mutation_p.S188I|LILRB1_ENST00000396332.4_Missense_Mutation_p.S188I|LILRB1_ENST00000427581.2_Missense_Mutation_p.S224I|LILRB1_ENST00000418536.2_Missense_Mutation_p.S188I|LILRB1_ENST00000396315.1_Missense_Mutation_p.S188I|LILRB1_ENST00000396321.2_Missense_Mutation_p.S188I|LILRB1_ENST00000448689.1_Missense_Mutation_p.S188I|LILRB1_ENST00000396317.1_Missense_Mutation_p.S188I|LILRB1_ENST00000324602.7_Missense_Mutation_p.S188I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	188	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCCCGTGAGCCCGAGTCGC	0.587										HNSCC(37;0.09)			22	159					3.5997e-14	4.21241e-14	1	0	T	55143590	G	T	55143590	3	4	386	1	0	0	0	0	1	0	0	0	8844	971	34	4	577	4	LILRB1	19	55143590	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	276007	55143590	3985393	85	74452											
KCNK15	60598	broad.mit.edu	37	chr20	43378790	43378790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtacggccacgccgcgccgGgtacggactccggcaaggtc	7	4	15	15	7	0	0	0	0	0	0	2	1	1	1	4	5	2	3	4	5	3	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:43378790G>C	ENST00000372861.3	+	2	435	c.304G>C	c.(304-306)Ggt>Cgt	p.G102R		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	102						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CGCCGCGCCGGGTACGGACTC	0.682													3	18					0	0	0	0	C	43378790	G	C	43378790	3	2	386	1	0	0	0	0	1	0	0	0	8115	1232	43	4	310	4	KCNK15	20	43378790	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08		43378790	19646730	86	74453											
SLC2A10	81031	broad.mit.edu	37	chr20	45353758	45353758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggttatgaactggcagTcatatcaggtgccctgctgc	7	13	11	10	0	2	1	2	1	0	0	2	1	2	1	1	3	4	3	1	3	3	3			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:45353758T>C	ENST00000359271.2	+	2	333	c.83T>C	c.(82-84)gTc>gCc	p.V28A		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	28						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GAACTGGCAGTCATATCAGGT	0.577													9	96					0	0	0	0	C	45353758	T	C	45353758	3	2	386	1	0	0	0	0	1	0	0	0	14627	1667	58	5	89	5	SLC2A10	20	45353758	Missense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08	1974968	45353758	17671762	87	74454											
TSSK2	23617	broad.mit.edu	37	chr22	19119322	19119322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgtccaccgggaccTcaagtgcgagaaccttctcc	9	7	10	15	3	2	1	1	0	1	1	5	4	3	3	5	2	2	0	5	2	2	1			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr22:19119322T>C	ENST00000399635.2	+	1	1002	c.410T>C	c.(409-411)cTc>cCc	p.L137P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	137	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CACCGGGACCTCAAGTGCGAG	0.592													3	85					0	0	0	0	C	19119322	T	C	19119322	3	2	386	1	0	0	0	0	1	0	0	0	16764	1551	54	5	412	5	TSSK2	22	19119322	Missense_Mutation	SNP	T	TCGA-DQ-5630-01A-01D-1870-08		19119322	32185244	88	74455											
XPNPEP3	63929	broad.mit.edu	37	chr22	41265050	41265050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcccttcagcctgtcccaGaaaggaggattccaaaccga	12	7	8	14	1	1	1	1	0	0	1	4	4	4	3	5	2	2	0	5	2	2	2			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr22:41265050G>C	ENST00000357137.4	+	2	196	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.E38Q|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.E15Q|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.E38Q	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	38					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GCCTGTCCCAGAAAGGAGGAT	0.458													7	134					0	0	0	0	C	41265050	G	C	41265050	3	2	386	1	0	0	0	0	1	0	0	0	17540	943	33	2	118	2	XPNPEP3	22	41265050	Missense_Mutation	SNP	G	TCGA-DQ-5630-01A-01D-1870-08	22145728	41265050	10039516	89	74456											
GPM6B	2824	broad.mit.edu	37	chrX	13801551	13801553	+	In_Frame_Del	DEL	GTG	GTG	-																															gcagttctttcactgcacttGtggtgtaaaagccttctgcc																										TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chrX:13801551_13801553delGTG	ENST00000454189.2	-	3	406_408	c.279_281delCAC	c.(277-282)aca>ac	p.TT93del	GPM6B_ENST00000356942.5_In_Frame_Del_p.TT112del|GPM6B_ENST00000316715.4_In_Frame_Del_p.TT152del|GPM6B_ENST00000493677.1_In_Frame_Del_p.TT126del|GPM6B_ENST00000355135.2_In_Frame_Del_p.TT152del|GPM6B_ENST00000398361.3_In_Frame_Del_p.TT26del	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	112					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CACTGCACTTGTGGTGTAAAAGC	0.424													22	78	---	---	---	---					-	13801553	GTG	-	13801551	7	5	386	1	0	1	0	1	0	0	0	0	6665	1377	48	0	633	0	GPM6B	23	13801551	In_Frame_Del	DEL	GTG	TCGA-DQ-5630-01A-01D-1870-08		13801551	141469009	90	74457											
CAMTA1	23261	broad.mit.edu	37	chr1	7724491	7724491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaaacccctccccgtcgaGcagaacacccacagcagcct	12	3	7	19	2	0	1	0	0	0	1	2	2	1	1	6	0	6	3	6	0	2	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:7724491G>A	ENST00000303635.7	+	9	2091	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	CAMTA1_ENST00000439411.2_Silent_p.E628E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCCCGTCGAGCAGAACACCC	0.652			T	WWTR1	epitheliod hemangioendothelioma								4	219					0	0	0	0	A	7724491	G	A	7724491	2	1	387	1	0	0	0	0	0	0	0	1	2638	962	34	4		4	CAMTA1	1	7724491	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		7724491	241526130	1	74458											
COL11A1	1301	broad.mit.edu	37	chr1	103444279	103444279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtactctttcacctggaggGccaggagggccatcgccacc	7	7	12	15	2	2	0	1	0	1	0	3	2	2	2	5	4	1	1	5	4	1	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:103444279G>A	ENST00000358392.2	-	35	3092	c.2775C>T	c.(2773-2775)ggC>ggT	p.G925G	COL11A1_ENST00000353414.4_Silent_p.G874G|COL11A1_ENST00000512756.1_Silent_p.G797G|COL11A1_ENST00000370096.3_Silent_p.G913G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	913	Triple-helical region.		Missing (in STL2; overlapping phenotype with Marshall syndrome).		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CACCTGGAGGGCCAGGAGGGC	0.383													24	158					0	0	0	0	A	103444279	G	A	103444279	2	1	387	1	0	0	0	0	0	0	0	1	3697	1190	42	4		4	COL11A1	1	103444279	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	95719788	103444279	145806342	2	74459											
NOTCH2	4853	broad.mit.edu	37	chr1	120539889	120539893	+	Frame_Shift_Del	DEL	GTGGT	GTGGT	-																															aggagaactggttggccacaGtggtacaggtacttccattt																										TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:120539889_120539893delGTGGT	ENST00000256646.2	-	4	697_701	c.478_482delACCAC	c.(478-483)tfs	p.TT160fs	NOTCH2_ENST00000602566.1_Frame_Shift_Del_p.TT121fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	160	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCCACAGTGGTACAGGTACTT	0.502			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				13	119	---	---	---	---					-	120539893	GTGGT	-	120539889	7	5	387	1	0	1	0	1	0	0	0	0	10618	1029	36	0	7057	0	NOTCH2	1	120539889	Frame_Shift_Del	DEL	GTGGT	TCGA-DQ-5631-01A-01D-1870-08	17095610	120539889	128710732	3	74460											
RPTN	126638	broad.mit.edu	37	chr1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtggaaactctggcctTgtctgtctgtctgaccatag																										TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:152128025_152128028delTGTC	ENST00000316073.3	-	3	1611_1614	c.1547_1550delGACA	c.(1546-1551)aafs	p.RQ516fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	516	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5													8	1252	---	---	---	---					-	152128028	TGTC	-	152128025	7	5	387	1	0	1	0	1	0	0	0	0	13749	1812	63	0	808	0	RPTN	1	152128025	Frame_Shift_Del	DEL	TGTC	TCGA-DQ-5631-01A-01D-1870-08	31588136	152128025	97122596	4	74461											
HRNR	388697	broad.mit.edu	37	chr1	152190959	152190959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagactctcggtgacctaagCcagaagagtgaccggagcca	12	5	13	11	2	1	5	0	2	1	3	2	7	1	6	4	2	2	0	4	2	2	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:152190959C>G	ENST00000368801.2	-	3	3221	c.3146G>C	c.(3145-3147)gGc>gCc	p.G1049A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1049					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTAAGCCAGAAGAGTG	0.562													50	223					0	0	0	0	G	152190959	C	G	152190959	3	3	387	1	0	0	0	0	1	0	0	0	7409	739	26	4	5410	4	HRNR	1	152190959	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	62934	152190959	97059662	5	74462											
FCGR3B	2215	broad.mit.edu	37	chr1	161596179	161596179	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacacccaccgaggggcctgGagcaacagccagcctgaaag	13	2	12	14	1	0	1	0	1	0	0	0	3	0	2	5	3	5	1	5	3	3	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:161596179G>C	ENST00000294800.3	-	4	606	c.333C>G	c.(331-333)ctC>ctG	p.L111L	FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Silent_p.L147L|FCGR3B_ENST00000367964.2_Silent_p.L111L	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	111					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGGGGCCTGGAGCAACAGCC	0.562													4	27					0	0	0	0	C	161596179	G	C	161596179	2	2	387	1	0	0	0	0	0	0	0	1	5830	1161	41	2		2	FCGR3B	1	161596179	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	9405220	161596179	87654442	6	74463											
GLRX2	51022	broad.mit.edu	37	chr1	193070317	193070317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaattctccaaagatgatGatgtattgctctccatccta	12	14	5	10	0	2	3	0	2	2	1	5	3	3	3	3	0	1	2	3	0	5	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:193070317G>A	ENST00000367440.3	-	2	615	c.140C>T	c.(139-141)tCa>tTa	p.S47L	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367439.3_Missense_Mutation_p.S46L	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	46					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CAAAGATGATGATGTATTGCT	0.343													15	47					0	0	0	0	A	193070317	G	A	193070317	3	1	387	1	0	0	0	0	1	0	0	0	6511	1294	45	2	369	2	GLRX2	1	193070317	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	31474138	193070317	56180304	7	74464											
WNT9A	7483	broad.mit.edu	37	chr1	228111988	228111988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcacggttctccaggtCgggtgcctcatcgcaggtac	5	9	13	14	3	3	0	2	0	1	0	6	0	3	0	3	5	2	3	3	5	1	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:228111988C>T	ENST00000272164.5	-	3	476	c.466G>A	c.(466-468)Gac>Aac	p.D156N	WNT9A_ENST00000497852.1_5'UTR	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	156					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TTCTCCAGGTCGGGTGCCTCA	0.632													29	89					0	0	0	0	T	228111988	C	T	228111988	3	4	387	1	0	0	0	0	1	0	0	0	17494	884	31	1	639	1	WNT9A	1	228111988	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	35041671	228111988	21138633	8	74465											
RYR2	6262	broad.mit.edu	37	chr1	237670089	237670089	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctgggttatgaataaaaTtgagcttggctggcagtatg	11	13	12	5	0	1	2	0	2	1	0	1	2	1	2	0	3	1	5	0	3	5	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:237670089T>C	ENST00000366574.2	+	23	3010	c.2693T>C	c.(2692-2694)aTt>aCt	p.I898T	RYR2_ENST00000542537.1_Missense_Mutation_p.I882T|RYR2_ENST00000360064.6_Missense_Mutation_p.I896T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	898	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGAATAAAATTGAGCTTGGC	0.333													7	34					0	0	0	0	C	237670089	T	C	237670089	3	2	387	1	0	0	0	0	1	0	0	0	13854	1493	52	5	2783	5	RYR2	1	237670089	Missense_Mutation	SNP	T	TCGA-DQ-5631-01A-01D-1870-08	9558101	237670089	11580532	9	74466											
ZNF496	84838	broad.mit.edu	37	chr1	247473644	247473644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggaggcattgagacccCgtaatcctccccaatgatga	11	9	9	12	1	0	3	0	3	0	1	2	5	2	4	5	2	0	2	5	2	2	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:247473644C>T	ENST00000294753.4	-	6	1230	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.G292R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	256	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ATTGAGACCCCGTAATCCTCC	0.493													15	49					0	0	0	0	T	247473644	C	T	247473644	3	4	387	1	0	0	0	0	1	0	0	0	18040	652	23	1	1013	1	ZNF496	1	247473644	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	9803555	247473644	1776977	10	74467											
NLRP3	114548	broad.mit.edu	37	chr1	247587539	247587539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccactgtcgagaggtgaGccttgtgacacagaggagcc	10	8	13	10	1	0	4	0	2	0	2	2	6	1	5	3	2	2	0	3	2	1	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:247587539G>T	ENST00000366497.2	+	4	1574	c.794G>T	c.(793-795)aGc>aTc	p.S265I	NLRP3_ENST00000336119.3_Missense_Mutation_p.S265I|NLRP3_ENST00000348069.2_Missense_Mutation_p.S265I|NLRP3_ENST00000391828.3_Missense_Mutation_p.S265I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.S265I|NLRP3_ENST00000391827.2_Missense_Mutation_p.S265I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	265	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			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)			CGAGAGGTGAGCCTTGTGACA	0.537													12	50					0.0135373	0.0142498	1	0	T	247587539	G	T	247587539	3	4	387	1	0	0	0	0	1	0	0	0	10548	971	34	4	804	4	NLRP3	1	247587539	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	113895	247587539	1663082	11	74468											
TTC27	55622	broad.mit.edu	37	chr2	33007733	33007733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtcaacttcctatatccGattaaaacaaaagtaagtac	16	13	4	8	1	1	0	1	0	0	0	3	1	3	0	2	0	3	2	2	0	9	7			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:33007733G>A	ENST00000317907.4	+	15	2051	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	607							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCCTATATCCGATTAAAACAA	0.294													14	43					0	0	0	0	A	33007733	G	A	33007733	3	1	387	1	0	0	0	0	1	0	0	0	16791	1058	37	1	1878	1	TTC27	2	33007733	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		33007733	210191640	12	74469											
THADA	63892	broad.mit.edu	37	chr2	43804258	43804258	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccaacatggcaagtgTcccctgacagaggaataaga	14	6	10	11	0	0	3	0	1	0	2	2	4	2	4	4	2	1	1	4	2	4	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:43804258T>G	ENST00000403856.1	-	11	1087	c.940A>C	c.(940-942)Aca>Cca	p.T314P	THADA_ENST00000405975.2_Missense_Mutation_p.T314P|THADA_ENST00000405006.4_Missense_Mutation_p.T314P|THADA_ENST00000415080.2_Missense_Mutation_p.T24P|THADA_ENST00000330266.7_Missense_Mutation_p.T24P|THADA_ENST00000402360.2_Missense_Mutation_p.T314P|THADA_ENST00000404790.1_Missense_Mutation_p.T314P			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	314							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGGCAAGTGTCCCCTGACAG	0.542											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	0	0	G	43804258	T	G	43804258	3	3	387	1	0	0	0	0	1	0	0	0	15934	1667	58	5	5037	5	THADA	2	43804258	Missense_Mutation	SNP	T	TCGA-DQ-5631-01A-01D-1870-08	10796525	43804258	199395115	13	74470											
CCDC138	165055	broad.mit.edu	37	chr2	109408186	109408186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaacaggaaacagaagaaGagttaattgaaaatgattat	22	8	9	2	0	0	6	0	2	0	4	0	7	0	7	0	1	2	1	0	1	8	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:109408186G>A	ENST00000295124.4	+	4	382	c.322G>A	c.(322-324)Gag>Aag	p.E108K	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.E108K	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	108										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AACAGAAGAAGAGTTAATTGA	0.269													36	139					0	0	0	0	A	109408186	G	A	109408186	3	1	387	1	0	0	0	0	1	0	0	0	2797	943	33	2	336	2	CCDC138	2	109408186	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	65603928	109408186	133791187	14	74471											
GLI2	2736	broad.mit.edu	37	chr2	121746950	121746950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaggtgagctccggcaccGtagacgccctggccagccag	8	5	14	14	3	0	3	0	2	0	1	1	3	1	3	5	3	2	3	5	3	1	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:121746950G>A	ENST00000452319.1	+	14	3520	c.3460G>A	c.(3460-3462)Gta>Ata	p.V1154I	GLI2_ENST00000361492.4_Missense_Mutation_p.V1154I|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1154					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCGGCACCGTAGACGCCCT	0.622													4	30					0	0	0	0	A	121746950	G	A	121746950	3	1	387	1	0	0	0	0	1	0	0	0	6489	1145	40	1	3510	1	GLI2	2	121746950	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	12338764	121746950	121452423	15	74472											
NEB	4703	broad.mit.edu	37	chr2	152543963	152543963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttggctgtcttcaaggaGtgcagcatctttggatcgtc	6	16	11	8	1	3	0	1	0	2	0	5	2	3	2	0	3	2	3	0	3	1	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:152543963G>C	ENST00000397345.3	-	27	2809	c.2607C>G	c.(2605-2607)caC>caG	p.H869Q	NEB_ENST00000603639.1_Missense_Mutation_p.H869Q|NEB_ENST00000409198.1_Missense_Mutation_p.H869Q|NEB_ENST00000604864.1_Missense_Mutation_p.H869Q|NEB_ENST00000172853.10_Missense_Mutation_p.H869Q|NEB_ENST00000427231.2_Missense_Mutation_p.H869Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	869					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCAAGGAGTGCAGCATCT	0.438													43	155					0	0	0	0	C	152543963	G	C	152543963	3	2	387	1	0	0	0	0	1	0	0	0	10372	1020	36	4	23703	4	NEB	2	152543963	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	30797013	152543963	90655410	16	74473											
CERKL	375298	broad.mit.edu	37	chr2	182423402	182423402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaaagcatgggctacttcGctagcagatccatctccacc	11	8	8	14	1	1	1	0	0	1	1	4	1	2	1	3	1	4	5	3	1	3	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:182423402G>A	ENST00000410087.3	-	5	811	c.711C>T	c.(709-711)agC>agT	p.S237S	CERKL_ENST00000409440.3_Silent_p.S219S|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000339098.5_Silent_p.S263S|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	263	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGCTACTTCGCTAGCAGATC	0.433													15	28					0	0	0	0	A	182423402	G	A	182423402	2	1	387	1	0	0	0	0	0	0	0	1	3297	1078	38	1		1	CERKL	2	182423402	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	29879439	182423402	60775971	17	74474											
DNAJC10	54431	broad.mit.edu	37	chr2	183616459	183616459	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttaccacgcttggacctCaaaattttcctgccaatgac	11	12	6	12	1	1	1	1	1	0	0	2	2	2	2	4	1	2	2	4	1	4	4	rs75109237		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:183616459C>T	ENST00000264065.6	+	15	1796	c.1381C>T	c.(1381-1383)Caa>Taa	p.Q461*		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	461	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTTGGACCTCAAAATTTTCC	0.368													40	165					0	0	0	0	T	183616459	C	T	183616459	4	4	387	1	0	0	0	0	0	1	0	0	4665	827	29	2	1431	2	DNAJC10	2	183616459	Nonsense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	1193057	183616459	59582914	18	74475											
MAP2	4133	broad.mit.edu	37	chr2	210560329	210560329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctcaccatggagtccttGaaagctgatgagggcaagaa	13	8	12	8	0	1	4	1	3	1	1	3	5	2	5	2	2	1	2	2	2	3	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:210560329G>A	ENST00000360351.4	+	7	3941	c.3435G>A	c.(3433-3435)ttG>ttA	p.L1145L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.L1141L|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1145					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGGAGTCCTTGAAAGCTGATG	0.483													7	44					0	0	0	0	A	210560329	G	A	210560329	2	1	387	1	0	0	0	0	0	0	0	1	9304	1281	45	2		2	MAP2	2	210560329	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	26943870	210560329	32639044	19	74476											
IQCA1	79781	broad.mit.edu	37	chr2	237374156	237374156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcatgttcacctgcattcGatgaaccaatgccggatctg	9	11	9	12	2	3	1	2	1	1	0	4	3	3	2	3	1	3	3	3	1	2	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:237374156G>A	ENST00000409907.3	-	6	1192	c.918C>T	c.(916-918)atC>atT	p.I306I	IQCA1_ENST00000309507.5_Silent_p.I302I|IQCA1_ENST00000431676.2_Silent_p.I306I			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	306							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACCTGCATTCGATGAACCAAT	0.423													11	30					0	0	0	0	A	237374156	G	A	237374156	2	1	387	1	0	0	0	0	0	0	0	1	7855	1048	37	1		1	IQCA1	2	237374156	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	26813827	237374156	5825217	20	74477											
SLC25A20	788	broad.mit.edu	37	chr3	48921543	48921543	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcagccattccccgataTagccccgtgatgccctgcaa	8	7	11	15	2	0	1	0	1	0	0	1	2	1	1	6	2	4	2	6	2	3	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr3:48921543T>C	ENST00000319017.4	-	3	411	c.213A>G	c.(211-213)ctA>ctG	p.L71L	SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Silent_p.L21L	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	71					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TTCCCCGATATAGCCCCGTGA	0.498													30	54					0	0	0	0	C	48921543	T	C	48921543	2	2	387	1	0	0	0	0	0	0	0	1	14571	1393	49	5		5	SLC25A20	3	48921543	Silent	SNP	T	TCGA-DQ-5631-01A-01D-1870-08		48921543	149100887	21	74478											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107634	6107634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaatgtaggccgtgtgccGtcgctgctcctgctcgcgct	4	10	13	14	6	0	0	0	0	0	0	3	1	1	0	3	1	3	5	3	1	2	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:6107634G>A	ENST00000409021.3	-	3	639	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R64W|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R64W	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	64	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCGTGTGCCGTCGCTGCTCC	0.672													15	45					0	0	0	0	A	6107634	G	A	6107634	3	1	387	1	0	0	0	0	1	0	0	0	7993	1144	40	1	2456	1	JAKMIP1	4	6107634	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		6107634	185046642	22	74479											
RBM47	54502	broad.mit.edu	37	chr4	40440734	40440734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggccctcccagccgggCggtgggccgccgtacttgcg	2	6	17	16	6	0	0	0	0	0	0	1	0	1	0	5	4	4	1	5	4	1	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:40440734C>T	ENST00000319592.4	-	4	886	c.177G>A	c.(175-177)ccG>ccA	p.P59P	RBM47_ENST00000514014.1_Silent_p.P21P|RBM47_ENST00000295971.7_Silent_p.P59P|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Silent_p.P59P|RBM47_ENST00000381795.6_Silent_p.P59P			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	59						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCAGCCGGGCGGTGGGCCGC	0.711													3	11					0	0	0	0	T	40440734	C	T	40440734	2	4	387	1	0	0	0	0	0	0	0	1	13223	755	27	1		1	RBM47	4	40440734	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	34333100	40440734	150713542	23	74480											
GABRG1	2565	broad.mit.edu	37	chr4	46099293	46099293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgatatctccttcatGaatttttggggccaagaccc	8	15	9	9	0	2	3	1	2	1	1	3	3	2	3	3	2	0	0	3	2	3	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:46099293G>T	ENST00000295452.4	-	2	345	c.178C>A	c.(178-180)Cat>Aat	p.H60N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	60					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTCCTTCATGAATTTTTGGG	0.368													16	133					3.52763e-06	3.85835e-06	1	0	T	46099293	G	T	46099293	3	4	387	1	0	0	0	0	1	0	0	0	6219	1290	45	2	1251	2	GABRG1	4	46099293	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	5658559	46099293	145054983	24	74481											
ADAMTS3	9508	broad.mit.edu	37	chr4	73148992	73148992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagccatttgtgaagctGaactgaggtggaccctcttg	9	10	12	10	0	1	3	0	3	1	0	1	4	1	4	2	2	4	2	2	2	2	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:73148992G>A	ENST00000286657.4	-	22	3515	c.3479C>T	c.(3478-3480)tCa>tTa	p.S1160L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1160					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTGAAGCTGAACTGAGGTG	0.498													8	145					0	0	0	0	A	73148992	G	A	73148992	3	1	387	1	0	0	0	0	1	0	0	0	267	1294	45	2	142	2	ADAMTS3	4	73148992	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	27049699	73148992	118005284	25	74482											
FGA	2243	broad.mit.edu	37	chr4	155507529	155507529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtactaccaggtctagggCtcccagggttttggtttcca	6	12	12	11	1	1	0	0	0	1	0	3	0	3	0	3	5	2	4	3	5	3	6			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:155507529C>A	ENST00000302053.3	-	5	1130	c.1052G>T	c.(1051-1053)aGc>aTc	p.S351I	FGA_ENST00000403106.3_Missense_Mutation_p.S351I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	351					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGGTCTAGGGCTCCCAGGGTT	0.557													35	59					1.836e-18	2.10689e-18	1	0	A	155507529	C	A	155507529	3	1	387	1	0	0	0	0	1	0	0	0	5875	797	28	4	1600	4	FGA	4	155507529	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	82358537	155507529	35646747	26	74483											
FAT1	2195	broad.mit.edu	37	chr4	187542861	187542861	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atactccgcttggttacttcGatctaattctttggcagttt	7	18	7	9	2	2	0	0	0	2	0	4	1	3	0	1	2	2	4	1	2	3	8			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:187542861G>A	ENST00000441802.2	-	10	5088	c.4879C>T	c.(4879-4881)Cga>Tga	p.R1627*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTTACTTCGATCTAATTCT	0.368										HNSCC(5;0.00058)			10	18					0	0	0	0	A	187542861	G	A	187542861	4	1	387	1	0	0	0	0	0	1	0	0	5734	1066	37	1	8959	1	FAT1	4	187542861	Nonsense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	32035332	187542861	3611415	27	74484											
DAB2	1601	broad.mit.edu	37	chr5	39381673	39381673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgaaggttctgagaCgggaggagcaaagatgtctg	10	8	16	7	1	2	3	0	2	2	2	2	6	2	5	1	4	1	2	1	4	2	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:39381673C>T	ENST00000545653.1	-	10	1854	c.1324G>A	c.(1324-1326)Gtc>Atc	p.V442I	DAB2_ENST00000509337.1_Missense_Mutation_p.V442I|DAB2_ENST00000339788.6_Missense_Mutation_p.V245I|DAB2_ENST00000320816.6_Missense_Mutation_p.V463I	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	463					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTCTGAGACGGGAGGAGCA	0.542													46	132					0	0	0	0	T	39381673	C	T	39381673	3	4	387	1	0	0	0	0	1	0	0	0	4251	536	19	1	941	1	DAB2	5	39381673	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08		39381673	141533587	28	74485											
PDE8B	8622	broad.mit.edu	37	chr5	76645253	76645253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccattaacagtatgtcaacCcagccttcgaaaggatgatg	13	9	8	11	1	1	1	1	1	0	0	2	3	1	2	3	1	3	1	3	1	4	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:76645253C>T	ENST00000264917.5	+	8	931	c.886C>T	c.(886-888)Cca>Tca	p.P296S	PDE8B_ENST00000342343.4_Missense_Mutation_p.P276S|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.P296S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	296	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GTATGTCAACCCAGCCTTCGA	0.507													37	23					0	0	0	0	T	76645253	C	T	76645253	3	4	387	1	0	0	0	0	1	0	0	0	11725	623	22	4	916	4	PDE8B	5	76645253	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	37263580	76645253	104270007	29	74486											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736077	140736077	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgtctacagaaactcAtatttcactgcaagtgatgg	12	12	7	10	0	3	2	2	1	1	1	4	2	4	2	1	1	3	1	1	1	4	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:140736077A>T	ENST00000571252.1	+	1	1310	c.1310A>T	c.(1309-1311)cAt>cTt	p.H437L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAAACTCATATTTCACTG	0.468													21	33					0	0	0	0	T	140736077	A	T	140736077	3	4	387	1	0	0	0	0	1	0	0	0	11627	217	8	5	1312	5	PCDHGA4	5	140736077	Missense_Mutation	SNP	A	TCGA-DQ-5631-01A-01D-1870-08	64090824	140736077	40179183	30	74487											
FOXI1	2299	broad.mit.edu	37	chr5	169535116	169535116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgacaatggaaatttccGcaggaaaaggaagagaaaat	18	7	11	5	2	0	1	0	0	0	1	2	6	1	4	1	3	0	2	1	3	7	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:169535116G>A	ENST00000306268.6	+	2	699	c.638G>A	c.(637-639)cGc>cAc	p.R213H	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	213					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAATTTCCGCAGGAAAAGG	0.493									Pendred syndrome				19	34					0	0	0	0	A	169535116	G	A	169535116	3	1	387	1	0	0	0	0	1	0	0	0	6056	1087	38	1	644	1	FOXI1	5	169535116	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	28799039	169535116	11380144	31	74488											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100329	27100329	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcgctcgaaaatgtcgttCacaaacgaattcatgatgcc	13	10	8	10	4	2	1	2	1	0	0	4	3	2	1	1	0	3	2	1	0	4	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:27100329C>T	ENST00000607124.1	-	1	200	c.201G>A	c.(199-201)gtG>gtA	p.V67V	HIST1H2BJ_ENST00000541790.1_Silent_p.V67V|HIST1H2BJ_ENST00000339812.2_Silent_p.V67V			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	67					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						AAATGTCGTTCACAAACGAAT	0.562													55	161					0	0	0	0	T	27100329	C	T	27100329	2	4	387	1	0	0	0	0	0	0	0	1	7199	813	29	2		2	HIST1H2BJ	6	27100329	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08		27100329	144014738	32	74489											
EFHC1	114327	broad.mit.edu	37	chr6	52334164	52334164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ataacggttttggactagtgGaagattctgctcagaattgt	11	14	11	5	1	2	2	1	0	1	2	2	4	2	4	0	3	2	2	0	3	4	6			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:52334164G>A	ENST00000371068.5	+	7	1274	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	EFHC1_ENST00000433625.2_Missense_Mutation_p.E300K|EFHC1_ENST00000538167.1_Missense_Mutation_p.E372K	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	391						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGGACTAGTGGAAGATTCTGC	0.378													25	90					0	0	0	0	A	52334164	G	A	52334164	3	1	387	1	0	0	0	0	1	0	0	0	4982	1175	41	2	1207	2	EFHC1	6	52334164	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	25233835	52334164	118780903	33	74490											
DST	667	broad.mit.edu	37	chr6	56334934	56334934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gataatgagtacctcatcttCgattttgtcggcatctgtga	9	15	9	8	2	3	2	1	2	2	0	5	4	3	2	1	1	1	2	1	1	2	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:56334934C>T	ENST00000370754.5	-	96	22374	c.22375G>A	c.(22375-22377)Gaa>Aaa	p.E7459K	DST_ENST00000370769.4_Missense_Mutation_p.E7281K|DST_ENST00000421834.2_Missense_Mutation_p.E5166K|DST_ENST00000361203.3_Missense_Mutation_p.E7170K|DST_ENST00000370788.2_Missense_Mutation_p.E5084K|DST_ENST00000244364.6_Missense_Mutation_p.E4867K|DST_ENST00000446842.2_Missense_Mutation_p.E6955K|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7279					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTCATCTTCGATTTTGTCG	0.378													9	35					0	0	0	0	T	56334934	C	T	56334934	3	4	387	1	0	0	0	0	1	0	0	0	4819	893	31	1	948	1	DST	6	56334934	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	4000770	56334934	114780133	34	74491											
STX1A	6804	broad.mit.edu	37	chr7	73117214	73117214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtccatgaacatgtcGtgtagctcacggatgctgtt	8	12	11	10	2	1	1	1	1	0	0	3	2	2	2	2	1	3	4	2	1	2	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:73117214G>A	ENST00000222812.3	-	8	665	c.639C>T	c.(637-639)caC>caT	p.H213H	WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_Silent_p.H213H|STX1A_ENST00000395155.3_Silent_p.H213H|STX1A_ENST00000395156.3_Silent_p.H213H	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	213	t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGAACATGTCGTGTAGCTCAC	0.592													23	48					0	0	0	0	A	73117214	G	A	73117214	2	1	387	1	0	0	0	0	0	0	0	1	15433	1136	40	1		1	STX1A	7	73117214	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		73117214	86021449	35	74492											
PCLO	27445	broad.mit.edu	37	chr7	82543963	82543963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaaaataagagtttgAgttttgagagtaacagggta	16	11	12	2	0	0	4	0	2	0	3	0	5	0	4	0	1	2	5	0	1	5	6			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:82543963A>T	ENST00000437081.1	-	2	3499	c.3499T>A	c.(3499-3501)Tca>Aca	p.S1167T	PCLO_ENST00000423517.2_Intron|PCLO_ENST00000333891.8_Intron			Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	0					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAAGAGTTTGAGTTTTGAGAG	0.378													8	16					0	0	0	0	T	82543963	A	T	82543963	3	4	387	1	0	0	0	0	1	0	0	0	11654	319	11	5		5	PCLO	7	82543963	Missense_Mutation	SNP	A	TCGA-DQ-5631-01A-01D-1870-08	9426749	82543963	76594700	36	74493											
MUC17	140453	broad.mit.edu	37	chr7	100684621	100684621	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaactcctgctgacacCagcacacctgtgaccactta	12	8	5	16	0	1	2	1	2	0	0	2	2	2	2	4	0	4	2	4	0	3	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:100684621C>A	ENST00000306151.4	+	3	9988	c.9924C>A	c.(9922-9924)acC>acA	p.T3308T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3308	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGACACCAGCACACCTG	0.498													164	408					1.33315e-76	1.55534e-76	1	0	A	100684621	C	A	100684621	2	1	387	1	0	0	0	0	0	0	0	1	10044	581	21	4		4	MUC17	7	100684621	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	18140658	100684621	58454042	37	74494											
MKRN1	23608	broad.mit.edu	37	chr7	140159671	140159671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gacttgaggaagcagcaaggGatgactttgtagttagctct	11	11	13	6	0	1	2	0	2	1	0	1	5	1	4	0	2	3	5	0	2	4	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:140159671G>C	ENST00000255977.2	-	3	604	c.380C>G	c.(379-381)tCc>tGc	p.S127C	MKRN1_ENST00000443720.2_Missense_Mutation_p.S127C|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.S63C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	127							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGCAGCAAGGGATGACTTTGT	0.403													28	71					0	0	0	0	C	140159671	G	C	140159671	3	2	387	1	0	0	0	0	1	0	0	0	9675	1174	41	2	1096	2	MKRN1	7	140159671	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	39475050	140159671	18978992	38	74495											
ASB10	136371	broad.mit.edu	37	chr7	150878272	150878272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtccgcagcatcagcGtctgctccagctgaaagcag	8	8	11	14	2	2	1	1	1	1	0	5	1	5	1	3	1	5	5	3	1	1	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:150878272G>A	ENST00000422024.1	-	3	1118	c.993C>T	c.(991-993)gaC>gaT	p.D331D	ASB10_ENST00000275838.1_Silent_p.D286D|ASB10_ENST00000420175.2_Silent_p.D286D|ASB10_ENST00000377867.3_Silent_p.D271D|ASB10_ENST00000434669.1_Silent_p.D331D	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	286					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCATCAGCGTCTGCTCCAG	0.672													5	23					0	0	0	0	A	150878272	G	A	150878272	2	1	387	1	0	0	0	0	0	0	0	1	1018	1136	40	1		1	ASB10	7	150878272	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	10718601	150878272	8260391	39	74496											
CSMD1	64478	broad.mit.edu	37	chr8	2876011	2876011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatttacccagacatcgagTttcgctgccgctccagagcc	9	9	9	14	3	0	2	0	0	0	2	3	4	1	2	4	0	3	3	4	0	2	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:2876011T>A	ENST00000602557.1	-	53	8575	c.8020A>T	c.(8020-8022)Act>Tct	p.T2674S	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2673S|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2674S|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2674	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACATCGAGTTTCGCTGCCG	0.458													109	88					0	0	0	0	A	2876011	T	A	2876011	3	1	387	1	0	0	0	0	1	0	0	0	3976	1725	60	5	2753	5	CSMD1	8	2876011	Missense_Mutation	SNP	T	TCGA-DQ-5631-01A-01D-1870-08		2876011	143488011	40	74497											
DENND3	22898	broad.mit.edu	37	chr8	142146792	142146792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccagaccagagcagtGgaagggcctcccggggcccc	9	2	15	15	1	0	2	0	0	0	2	1	4	1	3	6	4	2	1	6	4	2	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:142146792G>A	ENST00000519811.1	+	2	357	c.287G>A	c.(286-288)tGg>tAg	p.W96*	DENND3_ENST00000518347.1_Nonsense_Mutation_p.W96*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.W16*|DENND3_ENST00000424248.1_Nonsense_Mutation_p.W16*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	16										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGAGCAGTGGAAGGGCCTC	0.647													3	30					0	0	0	0	A	142146792	G	A	142146792	4	1	387	1	0	0	0	0	0	1	0	0	4469	1357	47	4	49	4	DENND3	8	142146792	Nonsense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	139270781	142146792	4217230	41	74498											
ZNF707	286075	broad.mit.edu	37	chr8	144776477	144776477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcggcaaagccttccGgaccaaggagaacctcagcc	11	4	12	14	2	1	1	1	0	0	1	2	4	2	3	5	4	4	1	5	4	3	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:144776477G>A	ENST00000532205.1	+	8	1792	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	ZNF707_ENST00000454097.1_Missense_Mutation_p.R298Q|ZNF707_ENST00000358656.4_Missense_Mutation_p.R298Q|ZNF707_ENST00000532158.1_Missense_Mutation_p.R298Q|ZNF707_ENST00000418203.2_Missense_Mutation_p.R298Q			Q96C28	ZN707_HUMAN	zinc finger protein 707	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGCCTTCCGGACCAAGGAG	0.632													5	24					0	0	0	0	A	144776477	G	A	144776477	3	1	387	1	0	0	0	0	1	0	0	0	18206	1116	39	1	907	1	ZNF707	8	144776477	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	2629685	144776477	1587545	42	74499											
SCRIB	23513	broad.mit.edu	37	chr8	144893098	144893098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggctgggtgggggctgctgGggcagcaagtagcaggtgag	7	6	22	6	0	0	1	0	1	0	0	0	1	0	1	0	7	3	7	0	7	2	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:144893098G>A	ENST00000356994.2	-	11	1257	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	SCRIB_ENST00000320476.3_Silent_p.P417P|SCRIB_ENST00000377533.3_Silent_p.P336P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	417	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGCTGCTGGGGCAGCAAGT	0.667													5	22					0	0	0	0	A	144893098	G	A	144893098	2	1	387	1	0	0	0	0	0	0	0	1	14024	1219	43	4		4	SCRIB	8	144893098	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	116621	144893098	1470924	43	74500											
NANS	54187	broad.mit.edu	37	chr9	100843365	100843365	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatggcctgcaatgagaagGtgtgtcctgccggactctac	9	9	13	10	1	1	2	0	1	1	2	2	4	2	3	3	3	3	1	3	3	3	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:100843365G>T	ENST00000210444.5	+	5	940		c.e5+1		NANS_ENST00000461452.1_Splice_Site|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_5'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase						lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAATGAGAAGGTGTGTCCTGC	0.622													13	31					1.36491e-13	1.5287e-13	1	0	T	100843365	G	T	100843365	5	4	387	1	0	0	0	0	0	0	1	0	10225	1275	44	4	889	4	NANS	9	100843365	Splice_Site	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		100843365	40370066	44	74501											
LRRC8A	56262	broad.mit.edu	37	chr9	131670491	131670491	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacggcgctccctcaagAagtactcgtttgagtcgatc	8	11	10	12	4	1	2	1	1	0	1	5	3	2	2	1	1	3	4	1	1	4	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:131670491A>C	ENST00000259324.5	+	3	1571	c.1048A>C	c.(1048-1050)Aag>Cag	p.K350Q	LRRC8A_ENST00000372600.4_Missense_Mutation_p.K350Q|LRRC8A_ENST00000372599.3_Missense_Mutation_p.K350Q	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	350					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTCCCTCAAGAAGTACTCGTT	0.522													6	38					0	0	0	0	C	131670491	A	C	131670491	3	2	387	1	0	0	0	0	1	0	0	0	9085	247	9	5	1050	5	LRRC8A	9	131670491	Missense_Mutation	SNP	A	TCGA-DQ-5631-01A-01D-1870-08	30827126	131670491	9542940	45	74502											
NOTCH1	4851	broad.mit.edu	37	chr9	139412327	139412327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtgtagccctgcagacActggcactcgaaggagccca	9	5	12	15	2	0	1	0	0	0	1	1	3	0	2	3	2	3	3	3	2	2	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:139412327A>G	ENST00000277541.6	-	8	1393	c.1318T>C	c.(1318-1320)Tgt>Cgt	p.C440R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCTGCAGACACTGGCACTCG	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	29					0	0	0	0	G	139412327	A	G	139412327	3	3	387	1	0	0	0	0	1	0	0	0	10617	159	6	5	6457	5	NOTCH1	9	139412327	Missense_Mutation	SNP	A	TCGA-DQ-5631-01A-01D-1870-08	7741836	139412327	1801104	46	74503											
GTPBP4	23560	broad.mit.edu	37	chr10	1046661	1046661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccaccctctggaggatagGaacaccatcgagatgcaggc	12	5	12	12	1	1	1	0	0	1	1	2	6	1	4	3	4	2	1	3	4	2	1	rs138136568		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:1046661G>A	ENST00000360803.4	+	7	781	c.699G>A	c.(697-699)agG>agA	p.R233R	GTPBP4_ENST00000545048.1_Silent_p.R186R|GTPBP4_ENST00000538293.1_Silent_p.R117R|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	233					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGGAGGATAGGAACACCATCG	0.567													7	24					0	0	0	0	A	1046661	G	A	1046661	2	1	387	1	0	0	0	0	0	0	0	1	6932	1165	41	2		2	GTPBP4	10	1046661	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		1046661	134488086	47	74504											
DNAJC1	64215	broad.mit.edu	37	chr10	22048519	22048519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctggaattctgaactgtCgatttgagttcggagagtct	8	13	13	7	2	2	3	0	2	2	1	4	6	2	4	1	3	1	1	1	3	2	3	rs148336959		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:22048519C>T	ENST00000376980.3	-	11	1466	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	392					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCTGAACTGTCGATTTGAGTT	0.562													14	30					0	0	0	0	T	22048519	C	T	22048519	2	4	387	1	0	0	0	0	0	0	0	1	4664	871	31	1		1	DNAJC1	10	22048519	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	21001858	22048519	113486228	48	74505											
ZNF365	22891	broad.mit.edu	37	chr10	64416233	64416233	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggacgtcttaggactcCaggactttgagaggtgggtg	10	9	16	6	1	1	2	0	1	1	2	2	6	2	5	1	5	0	0	1	5	2	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:64416233C>T	ENST00000410046.3	+	6	1487	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000395251.1_Nonsense_Mutation_p.Q157*	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	157										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					cttaggactccaggactttga	0.443													9	28					0	0	0	0	T	64416233	C	T	64416233	4	4	387	1	0	0	0	0	0	1	0	0	17964	595	21	4	1961	4	ZNF365	10	64416233	Nonsense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	42367714	64416233	71118514	49	74506											
GOT1	2805	broad.mit.edu	37	chr10	101165514	101165514	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctgaaggggcagttaccTtcatgacagaagcaatctgc	11	9	11	10	0	3	3	1	2	2	1	3	3	3	3	1	2	3	4	1	2	4	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:101165514T>G	ENST00000370508.5	-	5	668	c.642_splice	c.e5+1	p.K214_splice	GOT1_ENST00000543866.1_Splice_Site_p.K193_splice	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	214					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCAGTTACCTTCATGACAGA	0.438													5	56					0	0	0	0	G	101165514	T	G	101165514	5	3	387	1	0	0	0	0	0	0	1	0	6627	1623	56	5	620	5	GOT1	10	101165514	Splice_Site	SNP	T	TCGA-DQ-5631-01A-01D-1870-08	36749281	101165514	34369233	50	74507											
BLOC1S2	282991	broad.mit.edu	37	chr10	102045960	102045960	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctcagctgtctccacGgcggcatcgtctgggccaag	5	9	12	15	3	3	0	1	0	2	0	6	0	4	0	3	3	1	3	3	3	1	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:102045960G>C	ENST00000370372.2	-	2	118	c.66C>G	c.(64-66)gcC>gcG	p.A22A	BLOC1S2_ENST00000441611.1_5'UTR|BLOC1S2_ENST00000361832.2_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	22					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		CTGTCTCCACGGCGGCATCGT	0.572													8	39					0	0	0	0	C	102045960	G	C	102045960	2	2	387	1	0	0	0	0	0	0	0	1	1454	1103	39	3		3	BLOC1S2	10	102045960	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	880446	102045960	33488787	51	74508											
TRIM5	85363	broad.mit.edu	37	chr11	5699528	5699528	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcaccatctcagtttcaGagttcgtaaggcttttcaga	9	13	9	10	1	3	2	3	0	1	2	5	2	3	2	1	1	1	6	1	1	1	5	rs140632799		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:5699528G>C	ENST00000305836.5	-	4	952	c.650C>G	c.(649-651)tCt>tGt	p.S217C	TRIM5_ENST00000380034.3_Missense_Mutation_p.S217C|TRIM5_ENST00000396847.3_Missense_Mutation_p.S217C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S217C|TRIM5_ENST00000396853.4_Missense_Mutation_p.S217C|TRIM5_ENST00000380027.1_Missense_Mutation_p.S217C|TRIM5_ENST00000483835.1_5'UTR			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	217					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTCAGTTTCAGAGTTCGTAAG	0.512													19	79					0	0	0	0	C	5699528	G	C	5699528	3	2	387	1	0	0	0	0	1	0	0	0	16620	942	33	2	1090	2	TRIM5	11	5699528	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		5699528	129306988	52	74509											
OLFML1	283298	broad.mit.edu	37	chr11	7530749	7530749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaggtgtacttattaattgGatccagaaacaacactgttt	15	13	7	6	0	0	1	0	0	0	1	1	2	1	2	1	2	3	2	1	2	6	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:7530749G>C	ENST00000329293.3	+	3	933	c.539G>C	c.(538-540)gGa>gCa	p.G180A	OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.G180A|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	180	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTATTAATTGGATCCAGAAAC	0.423													9	58					0	0	0	0	C	7530749	G	C	7530749	3	2	387	1	0	0	0	0	1	0	0	0	10927	1174	41	2	549	2	OLFML1	11	7530749	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	1831221	7530749	127475767	53	74510											
SCUBE2	57758	broad.mit.edu	37	chr11	9096045	9096045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttccgagcggtgaatgCaggtgtgctgattgtcactc	7	12	12	10	2	1	2	1	2	0	0	3	3	2	2	2	2	4	2	2	2	2	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:9096045C>T	ENST00000457346.2	-	4	574	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	SCUBE2_ENST00000309263.3_Missense_Mutation_p.C167Y|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C167Y|SCUBE2_ENST00000520467.1_Missense_Mutation_p.C167Y			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	167	EGF-like 3; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCGGTGAATGCAGGTGTGCTG	0.572													4	109					0	0	0	0	T	9096045	C	T	9096045	3	4	387	1	0	0	0	0	1	0	0	0	14032	710	25	4	2666	4	SCUBE2	11	9096045	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	1565296	9096045	125910471	54	74511											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195018	18195018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacctggccgcagcagActtcctcttcctcagcttcc	6	10	6	19	1	3	1	2	0	1	1	6	1	6	1	6	1	3	3	6	1	1	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:18195018A>G	ENST00000314254.3	+	1	635	c.215A>G	c.(214-216)gAc>gGc	p.D72G	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	72						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCCGCAGCAGACTTCCTCTTC	0.532													15	76					0	0	0	0	G	18195018	A	G	18195018	3	3	387	1	0	0	0	0	1	0	0	0	9839	275	10	5	217	5	MRGPRX4	11	18195018	Missense_Mutation	SNP	A	TCGA-DQ-5631-01A-01D-1870-08	9098973	18195018	116811498	55	74512											
RSF1	51773	broad.mit.edu	37	chr11	77378520	77378520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcatcatcttcagagttCttggacaaatagctctctag	11	13	7	10	0	6	1	3	0	3	1	7	2	6	2	0	1	2	3	0	1	3	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77378520C>T	ENST00000308488.6	-	16	4070	c.3768G>A	c.(3766-3768)aaG>aaA	p.K1256K	RSF1_ENST00000360355.2_Silent_p.K1225K|RSF1_ENST00000480887.1_Silent_p.K1004K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1256					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTCAGAGTTCTTGGACAAAT	0.448													7	131					0	0	0	0	T	77378520	C	T	77378520	2	4	387	1	0	0	0	0	0	0	0	1	13784	912	32	2		2	RSF1	11	77378520	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	59183502	77378520	57627996	56	74513											
USP35	57558	broad.mit.edu	37	chr11	77911847	77911847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatgagcctgtcatggaggCcatcaaggtgagcgacagtc	10	8	14	9	1	2	2	2	2	0	0	3	4	2	3	2	3	2	1	2	3	2	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77911847C>T	ENST00000529308.1	+	6	1451	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A128V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	397					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTCATGGAGGCCATCAAGGTG	0.622													9	62					0	0	0	0	T	77911847	C	T	77911847	3	4	387	1	0	0	0	0	1	0	0	0	17162	739	26	4	1208	4	USP35	11	77911847	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	533327	77911847	57094669	57	74514											
USP35	57558	broad.mit.edu	37	chr11	77921356	77921356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgacctgcgcaccatgCggcgccgcaagatcctggat	7	8	11	15	5	0	1	0	0	0	1	2	3	1	2	4	2	2	2	4	2	1	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77921356C>T	ENST00000529308.1	+	10	2716	c.2455C>T	c.(2455-2457)Cgg>Tgg	p.R819W	USP35_ENST00000530267.1_Missense_Mutation_p.R387W|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.R405W|USP35_ENST00000526425.1_Missense_Mutation_p.R550W	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	819					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCGCACCATGCGGCGCCGCAA	0.647													4	136					0	0	0	0	T	77921356	C	T	77921356	3	4	387	1	0	0	0	0	1	0	0	0	17162	759	27	1	2489	1	USP35	11	77921356	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	9509	77921356	57085160	58	74515											
FAT3	120114	broad.mit.edu	37	chr11	92600371	92600371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcactggcctgccatcGgggggtgagtgtggctacgc	5	8	17	11	2	0	1	0	1	0	0	1	1	0	1	2	5	4	3	2	5	1	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:92600371G>A	ENST00000298047.6	+	21	12140	c.12123G>A	c.(12121-12123)tcG>tcA	p.S4041S	FAT3_ENST00000409404.2_Silent_p.S4041S|FAT3_ENST00000533797.1_Silent_p.S376S|FAT3_ENST00000525166.1_Silent_p.S3891S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4041	EGF-like 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCTGCCATCGGGGGGTGAGT	0.667										TCGA Ovarian(4;0.039)			3	14					0	0	0	0	A	92600371	G	A	92600371	2	1	387	1	0	0	0	0	0	0	0	1	5736	1103	39	1		1	FAT3	11	92600371	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	14679015	92600371	42406145	59	74516											
HEPHL1	341208	broad.mit.edu	37	chr11	93803697	93803697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtggtcttcctctaaaCgcctctggcaggtaagcacc	8	11	9	13	1	4	0	1	0	3	0	5	0	5	0	3	3	2	3	3	3	3	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:93803697C>T	ENST00000315765.9	+	6	1229	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	407	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCCTCTAAACGCCTCTGGCA	0.433													5	31					0	0	0	0	T	93803697	C	T	93803697	2	4	387	1	0	0	0	0	0	0	0	1	7105	535	19	1		1	HEPHL1	11	93803697	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	1203326	93803697	41202819	60	74517											
PPP2R1B	5519	broad.mit.edu	37	chr11	111630634	111630634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atttggaagcagcagcacgtCgtaccattggtgtgtcatct	9	12	11	9	2	2	0	1	0	1	0	3	1	2	1	1	2	4	4	1	2	2	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:111630634C>G	ENST00000527614.1	-	5	646	c.581G>C	c.(580-582)cGa>cCa	p.R194P	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R194P|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R130P|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R194P|PPP2R1B_ENST00000393055.2_Intron|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R33P	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	194							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGCAGCACGTCGTACCATTGG	0.413													8	58					0	0	0	0	G	111630634	C	G	111630634	3	3	387	1	0	0	0	0	1	0	0	0	12459	884	31	3	1491	3	PPP2R1B	11	111630634	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	17826937	111630634	23375882	61	74518											
RBM7	10179	broad.mit.edu	37	chr11	114271421	114271421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggcggcggcggaagcggatCgcactctctttgtgggcaac	6	7	16	12	6	1	0	0	0	1	0	3	2	1	2	0	6	2	2	0	6	2	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:114271421C>G	ENST00000541475.1	+	1	93	c.28C>G	c.(28-30)Cgc>Ggc	p.R10G	RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.I6M|RBM7_ENST00000540163.1_Missense_Mutation_p.R10G|RBM7_ENST00000375490.5_Missense_Mutation_p.R10G|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000544582.1_Missense_Mutation_p.R10G			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	10	RRM.				meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGAAGCGGATCGCACTCTCTT	0.627													29	119					0	0	0	0	G	114271421	C	G	114271421	3	3	387	1	0	0	0	0	1	0	0	0	13227	884	31	3	30	3	RBM7	11	114271421	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	2640787	114271421	20735095	62	74519											
ANKRD33	341405	broad.mit.edu	37	chr12	52282464	52282464	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcactgccctgcccgggCaaggagacccccaccccagg	8	2	13	18	1	0	1	0	0	0	1	0	3	0	1	6	4	2	2	6	4	1	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr12:52282464C>A	ENST00000301190.6	+	2	485	c.258C>A	c.(256-258)ggC>ggA	p.G86G	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCTGCCCGGGCAAGGAGACCC	0.617													13	78					0.000151284	0.000162922	1	0	A	52282464	C	A	52282464	2	1	387	1	0	0	0	0	0	0	0	1	660	697	25	4		4	ANKRD33	12	52282464	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08		52282464	81569431	63	74520											
ERBB3	2065	broad.mit.edu	37	chr12	56494868	56494868	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagtttctgggagcagTgaacggtgcccccgtccagt	6	10	13	12	2	2	1	0	1	2	0	3	2	3	2	3	2	4	3	3	2	1	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr12:56494868T>C	ENST00000267101.3	+	27	3665	c.3225T>C	c.(3223-3225)agT>agC	p.S1075S	ERBB3_ENST00000549832.1_Silent_p.S195S|ERBB3_ENST00000450146.2_Silent_p.S432S|ERBB3_ENST00000415288.2_Silent_p.S1016S|ERBB3_ENST00000553131.1_Silent_p.S316S	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1075					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGGAGCAGTGAACGGTGCC	0.483													6	34					0	0	0	0	C	56494868	T	C	56494868	2	2	387	1	0	0	0	0	0	0	0	1	5246	1693	59	5		5	ERBB3	12	56494868	Silent	SNP	T	TCGA-DQ-5631-01A-01D-1870-08	4212404	56494868	77357027	64	74521											
DACH1	1602	broad.mit.edu	37	chr13	72063173	72063173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatggaagacagtccatcagGaaacagaaaaggagatggaa	19	4	13	5	0	1	3	1	0	0	3	2	8	2	6	1	4	1	0	1	4	5	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr13:72063173G>A	ENST00000305425.4	-	7	2106	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	DACH1_ENST00000313174.7_Missense_Mutation_p.P414S|DACH1_ENST00000359684.2_Missense_Mutation_p.P614S|DACH1_ENST00000354591.4_Missense_Mutation_p.P360S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463													23	280					0	0	0	0	A	72063173	G	A	72063173	3	1	387	1	0	0	0	0	1	0	0	0	4253	1174	41	2	462	2	DACH1	13	72063173	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		72063173	43106705	65	74522											
RPGRIP1	57096	broad.mit.edu	37	chr14	21795884	21795884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagagcttcctgaaacCagaagctcagactaagggga	13	6	11	11	0	1	4	1	2	0	3	2	6	2	5	3	2	3	2	3	2	3	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:21795884C>A	ENST00000206660.6	+	17	2813	c.2813C>A	c.(2812-2814)cCa>cAa	p.P938Q	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P900Q|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.P297Q|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P595Q|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P938Q|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.P264Q			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	938					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTCCTGAAACCAGAAGCTCAG	0.473													10	39					7.48243e-07	8.24835e-07	1	0	A	21795884	C	A	21795884	3	1	387	1	0	0	0	0	1	0	0	0	13634	594	21	4	2879	4	RPGRIP1	14	21795884	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08		21795884	85553656	66	74523											
SOS2	6655	broad.mit.edu	37	chr14	50585274	50585274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttggagagggtgtgctagGaggagtgcttggcgaatttg	7	11	18	5	1	0	1	0	0	0	1	0	5	0	3	1	5	2	2	1	5	2	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:50585274G>C	ENST00000216373.5	-	23	4061	c.3787C>G	c.(3787-3789)Cct>Gct	p.P1263A	SOS2_ENST00000543680.1_Missense_Mutation_p.P1230A	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1263					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTGTGCTAGGAGGAGTGCTT	0.517													11	45					0	0	0	0	C	50585274	G	C	50585274	3	2	387	1	0	0	0	0	1	0	0	0	15025	1174	41	2	215	2	SOS2	14	50585274	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	28789390	50585274	56764266	67	74524											
SOS2	6655	broad.mit.edu	37	chr14	50626720	50626720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttgccttcccatccatcGatatttttctgaatttcatt	7	20	3	11	1	3	1	1	1	2	0	6	2	5	1	3	0	1	0	3	0	2	7	rs8010578		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:50626720G>A	ENST00000216373.5	-	10	1555	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.I394I	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	427					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCCATCCATCGATATTTTTCT	0.358													32	57					0	0	0	0	A	50626720	G	A	50626720	2	1	387	1	0	0	0	0	0	0	0	1	15025	1048	37	1		1	SOS2	14	50626720	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	41446	50626720	56722820	68	74525											
DUOXA1	90527	broad.mit.edu	37	chr15	45410265	45410265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggaaagtctcctggggcGatctgtaaataaaccttttt	11	12	10	8	1	2	0	0	0	2	0	3	2	2	1	2	3	1	1	2	3	5	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr15:45410265G>A	ENST00000267803.4	-	10	1393	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C|DUOXA2_ENST00000323030.5_3'UTR	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CTCCTGGGGCGATCTGTAAAT	0.552											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	0	0	A	45410265	G	A	45410265	3	1	387	1	0	0	0	0	1	0	0	0	4838	1058	37	1	465	1	DUOXA1	15	45410265	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		45410265	57121127	69	74526											
HEATR3	55027	broad.mit.edu	37	chr16	50138923	50138923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgtgaaaatgaatttgcGaagatttattgcttatcaag	15	14	8	4	1	1	3	1	2	0	1	1	4	1	3	0	0	2	1	0	0	8	5	rs137897639		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:50138923G>A	ENST00000299192.7	+	15	2185	c.1994G>A	c.(1993-1995)cGa>cAa	p.R665Q	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.R579Q	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	665							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATGAATTTGCGAAGATTTATT	0.333													37	64					0	0	0	0	A	50138923	G	A	50138923	3	1	387	1	0	0	0	0	1	0	0	0	7079	1058	37	1	2052	1	HEATR3	16	50138923	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		50138923	40215830	70	74527											
ENO3	2027	broad.mit.edu	37	chr17	4856404	4856404	+	Splice_Site	DEL	G	G	-																															ggccctgctctgctgcaaaaGgcaagtggggaagcccgctc																										TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:4856404delG	ENST00000323997.6	+	4	372	c.240_splice	c.e4+1	p.K81_splice	ENO3_ENST00000519584.1_Intron|ENO3_ENST00000518175.1_Splice_Site_p.K81_splice	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	81					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGCTGCAAAAGGCAAGTGGGG	0.577													18	58	---	---	---	---					-	4856404	G	-	4856404	8	5	387	1	0	1	0	1	0	0	1	0	5161	1014	35	0	250	0	ENO3	17	4856404	Splice_Site	DEL	G	TCGA-DQ-5631-01A-01D-1870-08		4856404	76338806	71	74528											
ZBTB4	57659	broad.mit.edu	37	chr17	7370078	7370078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagctggcgcaggacggCgggggcatgggacgggtccg	6	5	21	9	5	0	1	0	1	0	0	1	3	1	3	1	7	1	3	1	7	0	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7370078C>T	ENST00000311403.4	-	3	382	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A15T	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CGCAGGACGGCGGGGGCATGG	0.657													5	9					0	0	0	0	T	7370078	C	T	7370078	3	4	387	1	0	0	0	0	1	0	0	0	17636	768	27	1	3006	1	ZBTB4	17	7370078	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	2513674	7370078	73825132	72	74529											
TP53	7157	broad.mit.edu	37	chr17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaacatctcgaagcgctCacgcccacggatctgcagca	10	6	10	15	5	3	0	1	0	2	0	5	3	3	2	1	2	4	3	1	2	2	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	336	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)		TCGAAGCGCTCACGCCCACGG	0.517		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)			5	35					0.00198382	0.00212011	1	0	A	7574021	C	A	7574021	4	1	387	1	0	0	0	0	0	1	0	0	16476	835	29	2	183	2	TP53	17	7574021	Nonsense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	203943	7574021	73621189	73	74530											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			29	56					0	0	0	0	T	7577548	C	T	7577548	3	4	387	1	0	0	0	0	1	0	0	0	16476	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	3527	7577548	73617662	74	74531											
AURKB	9212	broad.mit.edu	37	chr17	8110609	8110609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatggcttttcttctcccGagccaagtacacgtttccaa	10	12	7	12	2	2	0	0	0	2	0	4	2	3	0	3	1	2	3	3	1	4	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:8110609G>A	ENST00000316199.6	-	5	363	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AURKB_ENST00000535053.1_Missense_Mutation_p.R96W|AURKB_ENST00000578549.1_Intron|AURKB_ENST00000534871.1_Missense_Mutation_p.R54W|AURKB_ENST00000585124.1_Missense_Mutation_p.R95W			Q96GD4	AURKB_HUMAN	aurora kinase B	95	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TTCTTCTCCCGAGCCAAGTAC	0.517													13	30					0	0	0	0	A	8110609	G	A	8110609	3	1	387	1	0	0	0	0	1	0	0	0	1227	1057	37	1	771	1	AURKB	17	8110609	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	533061	8110609	73084601	75	74532											
MYH13	8735	broad.mit.edu	37	chr17	10248886	10248886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgaccatccacaggaaCatcttctcgtagacggcttt	9	10	10	12	3	2	2	0	1	2	1	4	3	3	3	2	3	1	2	2	3	2	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:10248886C>T	ENST00000418404.3	-	13	1474	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	MYH13_ENST00000570743.1_Missense_Mutation_p.M437I|MYH13_ENST00000252172.4_Missense_Mutation_p.M437I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	437	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCACAGGAACATCTTCTCGT	0.522													33	115					0	0	0	0	T	10248886	C	T	10248886	3	4	387	1	0	0	0	0	1	0	0	0	10102	478	17	4	4617	4	MYH13	17	10248886	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	2138277	10248886	70946324	76	74533											
MYH4	4622	broad.mit.edu	37	chr17	10364306	10364306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcccataatgcatcacGgctccagtgagcttgtaaat	11	12	8	10	1	1	1	1	1	0	0	3	1	3	1	2	1	2	5	2	1	3	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:10364306G>A	ENST00000255381.2	-	12	1184	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	358	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AATGCATCACGGCTCCAGTGA	0.483													40	123					0	0	0	0	A	10364306	G	A	10364306	2	1	387	1	0	0	0	0	0	0	0	1	10107	1103	39	1		1	MYH4	17	10364306	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	115420	10364306	70830904	77	74534											
FBXW10	10517	broad.mit.edu	37	chr17	18659468	18659468	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgcattctctctgacacGtaggtactggggtcagaatc	8	12	11	10	2	3	2	1	1	2	1	6	2	3	2	0	3	1	4	0	3	3	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:18659468G>A	ENST00000308799.4	+	5	1538		c.e5+1		FBXW10_ENST00000395665.4_Splice_Site|FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTCTGACACGTAGGTACTGG	0.493													9	29					0	0	0	0	A	18659468	G	A	18659468	5	1	387	1	0	0	0	0	0	0	1	0	5808	1159	40	1	1255	1	FBXW10	17	18659468	Splice_Site	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	8295162	18659468	62535742	78	74535											
STAT3	6774	broad.mit.edu	37	chr17	40485969	40485969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcatcggccggtgctgtAcaatggggtcccctttgtag	6	10	13	12	2	0	0	0	0	0	0	2	0	1	0	4	4	3	4	4	4	3	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:40485969A>G	ENST00000264657.5	-	9	1208	c.896T>C	c.(895-897)gTa>gCa	p.V299A	STAT3_ENST00000585517.1_Missense_Mutation_p.V299A|STAT3_ENST00000389272.3_Missense_Mutation_p.V201A|STAT3_ENST00000588969.1_Missense_Mutation_p.V299A|STAT3_ENST00000404395.3_Missense_Mutation_p.V299A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	299					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCGGTGCTGTACAATGGGGTC	0.428									Hyperimmunoglobulin E Recurrent Infection Syndrome				18	53					0	0	0	0	G	40485969	A	G	40485969	3	3	387	1	0	0	0	0	1	0	0	0	15356	391	14	5	1480	5	STAT3	17	40485969	Missense_Mutation	SNP	A	TCGA-DQ-5631-01A-01D-1870-08	21826501	40485969	40709241	79	74536											
ITGA2B	3674	broad.mit.edu	37	chr17	42452040	42452040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacctgagcttcccctCggggcaggctgagcgggggc	5	6	15	15	2	1	2	1	2	0	0	3	2	2	2	3	5	2	3	3	5	0	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:42452040C>A	ENST00000262407.5	-	28	2961	c.2930G>T	c.(2929-2931)cGa>cTa	p.R977L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	977					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGCTTCCCCTCGGGGCAGGCT	0.632													12	43					2.61681e-11	2.90757e-11	1	0	A	42452040	C	A	42452040	3	1	387	1	0	0	0	0	1	0	0	0	7929	884	31	3	201	3	ITGA2B	17	42452040	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	1966071	42452040	38743170	80	74537											
CACNA1G	8913	broad.mit.edu	37	chr17	48685319	48685319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtcggcagcaccaggaGgaagaggaggcccggcggcg	10	2	19	10	4	0	1	0	0	0	1	1	4	0	4	2	7	1	2	2	7	2	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:48685319G>A	ENST00000352832.5	+	24	4947	c.4575G>A	c.(4573-4575)gaG>gaA	p.E1525E	CACNA1G_ENST00000507896.1_Silent_p.E1548E|CACNA1G_ENST00000513689.2_Silent_p.E1514E|CACNA1G_ENST00000513964.1_Silent_p.E1514E|CACNA1G_ENST00000510366.1_Silent_p.E1514E|CACNA1G_ENST00000515765.1_Silent_p.E1548E|CACNA1G_ENST00000503485.1_Silent_p.E1514E|CACNA1G_ENST00000429973.2_Silent_p.E1548E|CACNA1G_ENST00000515411.1_Silent_p.E1548E|CACNA1G_ENST00000512389.1_Silent_p.E1548E|CACNA1G_ENST00000515165.1_Silent_p.E1548E|CACNA1G_ENST00000514717.1_Silent_p.E1491E|CACNA1G_ENST00000514181.1_Silent_p.E1548E|CACNA1G_ENST00000360761.4_Silent_p.E1525E|CACNA1G_ENST00000514079.1_Silent_p.E1548E|CACNA1G_ENST00000502264.1_Silent_p.E1525E|CACNA1G_ENST00000442258.2_Silent_p.E1525E|CACNA1G_ENST00000505165.1_Silent_p.E1548E|CACNA1G_ENST00000354983.4_Silent_p.E1525E|CACNA1G_ENST00000358244.5_Silent_p.E1525E|CACNA1G_ENST00000507510.2_Silent_p.E1548E|CACNA1G_ENST00000507609.1_Silent_p.E1548E|CACNA1G_ENST00000359106.5_Silent_p.E1548E|CACNA1G_ENST00000507336.1_Silent_p.E1548E|CACNA1G_ENST00000510115.1_Silent_p.E1525E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1548					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCACCAGGAGGAAGAGGAGG	0.547													8	32					0	0	0	0	A	48685319	G	A	48685319	2	1	387	1	0	0	0	0	0	0	0	1	2569	991	35	4		4	CACNA1G	17	48685319	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	6233279	48685319	32509891	81	74538											
KIF2B	84643	broad.mit.edu	37	chr17	51902045	51902045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagatgtaaggccctacCatcgtggccactatccgatt	10	11	9	11	2	0	1	0	0	0	1	2	2	1	1	4	2	1	2	4	2	4	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:51902045C>A	ENST00000268919.4	+	1	1807	c.1651C>A	c.(1651-1653)Cat>Aat	p.H551N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	551					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCCCTACCATCGTGGCCA	0.398													17	38					5.3912e-06	5.85092e-06	1	0	A	51902045	C	A	51902045	3	1	387	1	0	0	0	0	1	0	0	0	8349	594	21	4	1653	4	KIF2B	17	51902045	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	3216726	51902045	29293165	82	74539											
ITGB4	3691	broad.mit.edu	37	chr17	73748588	73748588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggaggactacgacagcttCcttatgtacagcgatgacgt	10	9	13	9	3	0	1	0	1	0	0	1	5	1	3	1	3	4	2	1	3	3	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:73748588C>T	ENST00000200181.3	+	32	4225	c.4038C>T	c.(4036-4038)ttC>ttT	p.F1346F	ITGB4_ENST00000579662.1_Silent_p.F1346F|ITGB4_ENST00000339591.3_Silent_p.F1346F|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Silent_p.F1346F|ITGB4_ENST00000449880.2_Silent_p.F1346F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1346					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGACAGCTTCCTTATGTACA	0.627													15	79					0	0	0	0	T	73748588	C	T	73748588	2	4	387	1	0	0	0	0	0	0	0	1	7950	854	30	2		2	ITGB4	17	73748588	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	21846543	73748588	7446622	83	74540											
WDR7	23335	broad.mit.edu	37	chr18	54424102	54424102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcaaggaacacctccttGatgatgaagaggaggatgag	15	7	12	7	0	1	5	1	4	0	1	2	8	2	8	2	3	1	0	2	3	3	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr18:54424102G>C	ENST00000254442.3	+	15	2489	c.2278G>C	c.(2278-2280)Gat>Cat	p.D760H	WDR7_ENST00000357574.3_Missense_Mutation_p.D760H|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	760										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACACCTCCTTGATGATGAAGA	0.423													7	25					0	0	0	0	C	54424102	G	C	54424102	3	2	387	1	0	0	0	0	1	0	0	0	17416	1290	45	2	2332	2	WDR7	18	54424102	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		54424102	23653146	84	74541											
CDH19	28513	broad.mit.edu	37	chr18	64176256	64176256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgatcataatgcaaatgaGaatagcaatgatgacttctg	16	12	8	5	0	2	4	1	4	1	1	2	5	2	4	0	0	2	2	0	0	6	4	rs150398178	byFrequency	TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr18:64176256G>A	ENST00000262150.2	-	11	2096	c.1804C>T	c.(1804-1806)Ctc>Ttc	p.L602F	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	602					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGCAAATGAGAATAGCAATG	0.418													17	58					0	0	0	0	A	64176256	G	A	64176256	3	1	387	1	0	0	0	0	1	0	0	0	3133	942	33	2	522	2	CDH19	18	64176256	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	9752154	64176256	13900992	85	74542											
MUC16	94025	broad.mit.edu	37	chr19	9060890	9060890	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaccagggaagatggAgggctagttttttccactga	13	9	12	7	0	0	3	0	1	0	2	1	5	1	5	2	3	0	2	2	3	3	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:9060890A>G	ENST00000397910.4	-	3	26759	c.26556T>C	c.(26554-26556)ccT>ccC	p.P8852P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8854	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAGATGGAGGGCTAGTTT	0.522													26	113					0	0	0	0	G	9060890	A	G	9060890	2	3	387	1	0	0	0	0	0	0	0	1	10043	291	11	5		5	MUC16	19	9060890	Silent	SNP	A	TCGA-DQ-5631-01A-01D-1870-08		9060890	50068093	86	74543											
TSSK6	83983	broad.mit.edu	37	chr19	19625929	19625929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggggatgcgcccgttgCgctgcacggcttgcagcagg	4	7	16	14	5	0	0	0	0	0	0	1	1	1	1	2	4	5	6	2	4	0	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:19625929C>T	ENST00000360913.3	-	1	909	c.308G>A	c.(307-309)cGc>cAc	p.R103H	TSSK6_ENST00000585580.3_Missense_Mutation_p.R103H			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	103	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCGCCCGTTGCGCTGCACGGC	0.652													17	53					0	0	0	0	T	19625929	C	T	19625929	3	4	387	1	0	0	0	0	1	0	0	0	16767	768	27	1	517	1	TSSK6	19	19625929	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	10565039	19625929	39503054	87	74544											
WDR88	126248	broad.mit.edu	37	chr19	33647373	33647373	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtccacacaggggagtttCgaaactgtggagcctgtgtg	9	9	14	9	2	0	0	0	0	0	0	2	3	1	2	2	3	2	1	2	3	1	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:33647373C>T	ENST00000361680.2	+	7	1000	c.922C>T	c.(922-924)Cga>Tga	p.R308*	WDR88_ENST00000355868.3_Nonsense_Mutation_p.R308*			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	308										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGGGGAGTTTCGAAACTGTGG	0.463													24	68					0	0	0	0	T	33647373	C	T	33647373	4	4	387	1	0	0	0	0	0	1	0	0	17431	876	31	1	948	1	WDR88	19	33647373	Nonsense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	14021444	33647373	25481610	88	74545											
HNRNPL	3191	broad.mit.edu	37	chr19	39327374	39327374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctaattaggaggcgtgCtgagcagtggagaaacacaa	14	6	13	8	1	0	2	0	1	0	1	0	4	0	3	1	3	3	3	1	3	4	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:39327374C>A	ENST00000221419.5	-	13	2124	c.1758G>T	c.(1756-1758)caG>caT	p.Q586H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.Q453H|AC104534.3_ENST00000594769.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	586					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGGAGGCGTGCTGAGCAGTGG	0.453													4	162					0.00909568	0.00964693	1	0	A	39327374	C	A	39327374	3	1	387	1	0	0	0	0	1	0	0	0	7320	796	28	4	15	4	HNRNPL	19	39327374	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	5680001	39327374	19801609	89	74546											
AP2A1	160	broad.mit.edu	37	chr19	50309485	50309485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgggctgtctgcttcGgctggagcccaatgcccagg	5	8	16	12	1	1	0	0	0	1	0	2	1	1	1	2	5	3	4	2	5	1	1			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:50309485G>A	ENST00000354293.5	+	22	2931	c.2765G>A	c.(2764-2766)cGg>cAg	p.R922Q	AP2A1_ENST00000359032.5_Missense_Mutation_p.R944Q	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	944					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGTCTGCTTCGGCTGGAGCCC	0.637													6	11					0	0	0	0	A	50309485	G	A	50309485	3	1	387	1	0	0	0	0	1	0	0	0	740	1116	39	1	2921	1	AP2A1	19	50309485	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	10982111	50309485	8819498	90	74547											
SIGLEC6	946	broad.mit.edu	37	chr19	52034681	52034681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggctggaagggtagtggGcaatctgcagggtacgagga	10	6	19	6	2	1	0	0	0	1	0	1	4	1	2	0	6	2	5	0	6	4	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:52034681G>A	ENST00000346477.3	-	2	228	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P54S|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597													13	54					0	0	0	0	A	52034681	G	A	52034681	3	1	387	1	0	0	0	0	1	0	0	0	14400	1203	42	4	1262	4	SIGLEC6	19	52034681	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	1725196	52034681	7094302	91	74548											
ZNF761	388561	broad.mit.edu	37	chr19	53959369	53959369	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctttagttggaagtcatcCcttacctgccatcgtagact	9	13	7	12	1	1	1	1	0	0	1	3	2	2	2	4	1	2	2	4	1	4	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:53959369C>T	ENST00000454407.1	+	0	2061							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAAGTCATCCCTTACCTGCC	0.443													21	82					0	0	0	0	T	53959369	C	T	53959369	1	4	387	0	1	0	0	0	0	0	0	0	18230	610	22	4		4	ZNF761	19	53959369	RNA	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	1924688	53959369	5169614	92	74549											
CACNG8	59283	broad.mit.edu	37	chr19	54466508	54466508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcggcctcatgaccatcGccatcagcactgactactgg	8	9	8	16	2	2	2	2	2	0	0	4	2	2	2	4	2	2	1	4	2	1	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:54466508G>A	ENST00000270458.2	+	1	215	c.112G>A	c.(112-114)Gcc>Acc	p.A38T		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	38					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CATGACCATCGCCATCAGCAC	0.697													6	16					0	0	0	0	A	54466508	G	A	54466508	3	1	387	1	0	0	0	0	1	0	0	0	2588	1087	38	1	114	1	CACNG8	19	54466508	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	507139	54466508	4662475	93	74550											
LILRA1	11024	broad.mit.edu	37	chr19	55106777	55106777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggccccgtgagcccgagtCgcaggtggtcgtacaggtgc	5	7	17	12	4	0	1	0	1	0	0	2	2	0	1	3	4	3	2	3	4	1	1	rs141328341		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:55106777C>T	ENST00000453777.1	+	5	741	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R191C|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGCCCGAGTCGCAGGTGGTC	0.567													60	159					0	0	0	0	T	55106777	C	T	55106777	3	4	387	1	0	0	0	0	1	0	0	0	8838	884	31	1	585	1	LILRA1	19	55106777	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	640269	55106777	4022206	94	74551											
NLRP7	199713	broad.mit.edu	37	chr19	55450945	55450945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcggccaggaggctcagCgtccgcagcgcgccccgcag	5	3	16	17	7	1	0	1	0	0	0	2	1	2	1	4	3	3	3	4	3	0	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:55450945C>T	ENST00000588756.1	-	6	1728	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000340844.2_Silent_p.T414T|NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000590030.1_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000446217.1_Silent_p.T442T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	414	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAGGCTCAGCGTCCGCAGCG	0.711													5	31					0	0	0	0	T	55450945	C	T	55450945	2	4	387	1	0	0	0	0	0	0	0	1	10552	755	27	1		1	NLRP7	19	55450945	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	344168	55450945	3678038	95	74552											
ZNF274	10782	broad.mit.edu	37	chr19	58723899	58723899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctagaaaacgattgcGcaaacgtgactcacaagtta	14	9	7	11	3	1	2	1	1	0	1	3	3	3	2	2	0	3	2	2	0	6	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:58723899G>A	ENST00000326804.4	+	9	1808	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	ZNF274_ENST00000345813.3_Missense_Mutation_p.R418H|ZNF274_ENST00000424679.2_Missense_Mutation_p.R345H|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	451					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AAACGATTGCGCAAACGTGAC	0.428													5	123					0	0	0	0	A	58723899	G	A	58723899	3	1	387	1	0	0	0	0	1	0	0	0	17904	1087	38	1	1377	1	ZNF274	19	58723899	Missense_Mutation	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	3272954	58723899	405084	96	74553											
DEFB124	245937	broad.mit.edu	37	chr20	30053437	30053437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttggcaggccccttgacCcttccagcaccgtttgaatt	7	12	9	13	1	0	2	0	2	0	0	1	2	1	2	5	2	1	4	5	2	1	5			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:30053437C>T	ENST00000317676.2	-	2	87	c.88G>A	c.(88-90)Ggt>Agt	p.G30S		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	30					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCCCTTGACCCTTCCAGCAC	0.522													39	141					0	0	0	0	T	30053437	C	T	30053437	3	4	387	1	0	0	0	0	1	0	0	0	4446	623	22	4	131	4	DEFB124	20	30053437	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08		30053437	32972083	97	74554											
ASXL1	171023	broad.mit.edu	37	chr20	31021696	31021696	+	Frame_Shift_Del	DEL	G	G	-																															aagccacagcccactaaagaGgagcccaaagtcccgcccat																										TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:31021696delG	ENST00000375687.4	+	12	2119	c.1695delG	c.(1693-1695)gafs	p.E566fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.E561fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	566					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCACTAAAGAGGAGCCCAAAG	0.512			"F, N, Mis"		"MDS, CMML"								31	121	---	---	---	---					-	31021696	G	-	31021696	7	5	387	1	0	1	0	1	0	0	0	0	1070	991	35	0	1747	0	ASXL1	20	31021696	Frame_Shift_Del	DEL	G	TCGA-DQ-5631-01A-01D-1870-08	968259	31021696	32003824	98	74555											
SLC12A5	57468	broad.mit.edu	37	chr20	44680470	44680470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggccccgcaactggCgccagaaggaagatcatcag	10	6	13	12	2	2	2	2	0	0	2	2	3	2	3	3	4	1	2	3	4	3	1	rs149667115		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:44680470C>T	ENST00000454036.1	+	18	2483	c.2407C>T	c.(2407-2409)Cgc>Tgc	p.R803C	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R780C	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	803					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.R780C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCAACTGGCGCCAGAAGGA	0.622													45	92					0	0	0	0	T	44680470	C	T	44680470	3	4	387	1	0	0	0	0	1	0	0	0	14474	768	27	1	2533	1	SLC12A5	20	44680470	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	13658774	44680470	18345050	99	74556											
OGFR	11054	broad.mit.edu	37	chr20	61444556	61444556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcccagcaggacctgCaggggacgagccagccgaga	10	1	14	16	2	0	1	0	0	0	1	0	5	0	3	6	3	5	2	6	3	0	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:61444556C>T	ENST00000370461.1	+	5	3710	c.1433C>T	c.(1432-1434)gCa>gTa	p.A478V	OGFR_ENST00000290291.6_Missense_Mutation_p.A530V|OGFR_ENST00000370468.3_Intron			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	530					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCAGGACCTGCAGGGGACGAG	0.701													4	15					0	0	0	0	T	61444556	C	T	61444556	3	4	387	1	0	0	0	0	1	0	0	0	10914	710	25	4	1615	4	OGFR	20	61444556	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	16764086	61444556	1580964	100	74557											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338153	28338153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagacgtgcaggatccgtgcGgacccatccccgtacacgcg	8	6	12	15	6	0	1	0	0	0	1	2	3	2	3	4	2	3	2	4	2	2	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr21:28338153G>A	ENST00000284987.5	-	1	679	c.558C>T	c.(556-558)tcC>tcT	p.S186S		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	186					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGATCCGTGCGGACCCATCCC	0.697													5	19					0	0	0	0	A	28338153	G	A	28338153	2	1	387	1	0	0	0	0	0	0	0	1	269	1103	39	1		1	ADAMTS5	21	28338153	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08		28338153	19791742	101	74558											
ARSF	416	broad.mit.edu	37	chrX	2998964	2998964	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaatagacgtgtcatcCaaaatcttgcagtccccgca	11	10	9	11	2	2	1	1	0	1	1	4	1	4	1	3	1	1	3	3	1	4	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:2998964C>T	ENST00000381127.1	+	5	537	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.Q106*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.Q106*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	106						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGTGTCATCCAAAATCTTGC	0.438													21	12					0	0	0	0	T	2998964	C	T	2998964	4	4	387	1	0	0	0	0	0	1	0	0	995	595	21	4	330	4	ARSF	23	2998964	Nonsense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08		2998964	152271596	102	74559											
PRKX	5613	broad.mit.edu	37	chrX	3573309	3573309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttggagtgcaggtactcGatggcacagatgatctctgc	8	12	12	9	1	2	2	0	1	2	1	4	4	2	3	0	3	3	3	0	3	1	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:3573309G>A	ENST00000262848.5	-	3	834	c.480C>T	c.(478-480)atC>atT	p.I160I	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	160	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCAGGTACTCGATGGCACAGA	0.577													35	49					0	0	0	0	A	3573309	G	A	3573309	2	1	387	1	0	0	0	0	0	0	0	1	12607	1048	37	1		1	PRKX	23	3573309	Silent	SNP	G	TCGA-DQ-5631-01A-01D-1870-08	574345	3573309	151697251	103	74560											
CTPS2	56474	broad.mit.edu	37	chrX	16635319	16635319	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccatcaacatcctgaccTacaaaacttaagtcattctg	13	12	3	13	0	4	1	2	1	2	0	6	1	5	1	3	0	3	0	3	0	5	3			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:16635319T>C	ENST00000443824.1	-	16	2243	c.1500A>G	c.(1498-1500)gtA>gtG	p.V500V	CTPS2_ENST00000359276.4_Silent_p.V500V|CTPS2_ENST00000380241.3_Silent_p.V500V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	500	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CATCCTGACCTACAAAACTTA	0.398													3	114					0	0	0	0	C	16635319	T	C	16635319	2	2	387	1	0	0	0	0	0	0	0	1	4055	1509	53	5		5	CTPS2	23	16635319	Silent	SNP	T	TCGA-DQ-5631-01A-01D-1870-08	13062010	16635319	138635241	104	74561											
MAP7D2	256714	broad.mit.edu	37	chrX	20082895	20082895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttggccaatctctgcctCtcatctgatttcaaaaatcc	9	15	4	13	0	5	1	2	1	4	0	8	1	6	1	3	1	1	0	3	1	3	2			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:20082895C>T	ENST00000379651.3	-	2	177	c.159G>A	c.(157-159)gaG>gaA	p.E53E	MAP7D2_ENST00000379643.5_Silent_p.E53E|MAP7D2_ENST00000452324.3_Silent_p.E9E|MAP7D2_ENST00000443379.3_Silent_p.E53E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	53										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATCTCTGCCTCTCATCTGATT	0.408													8	20					0	0	0	0	T	20082895	C	T	20082895	2	4	387	1	0	0	0	0	0	0	0	1	9337	912	32	2		2	MAP7D2	23	20082895	Silent	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	3447576	20082895	135187665	105	74562											
BCOR	54880	broad.mit.edu	37	chrX	39934150	39934150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtattccaggcggtgttTtgtatatagcactgaagcca	9	15	10	7	1	0	1	0	1	0	0	1	1	1	1	2	2	2	4	2	2	5	8			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:39934150T>C	ENST00000342274.4	-	4	811	c.449A>G	c.(448-450)aAa>aGa	p.K150R	BCOR_ENST00000378444.4_Missense_Mutation_p.K150R|BCOR_ENST00000378455.4_Missense_Mutation_p.K150R|BCOR_ENST00000397354.3_Missense_Mutation_p.K150R	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	150					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGCGGTGTTTTGTATATAGC	0.507			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						27	33					0	0	0	0	C	39934150	T	C	39934150	3	2	387	1	0	0	0	0	1	0	0	0	1390	1841	64	5	4866	5	BCOR	23	39934150	Missense_Mutation	SNP	T	TCGA-DQ-5631-01A-01D-1870-08	19851255	39934150	115336410	106	74563											
PCDH11X	27328	broad.mit.edu	37	chrX	91090676	91090676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccaaacaagtccttgaCaactgctatgcagttcaagc	13	10	7	11	0	1	1	1	1	0	0	3	2	3	1	2	0	5	3	2	0	5	4			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:91090676C>A	ENST00000373094.1	+	1	1018	c.173C>A	c.(172-174)aCa>aAa	p.T58K	PCDH11X_ENST00000504220.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T58K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T58K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T58K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	58	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGTCCTTGACAACTGCTATG	0.453													36	68					9.04072e-19	1.04603e-18	1	0	A	91090676	C	A	91090676	3	1	387	1	0	0	0	0	1	0	0	0	11579	478	17	4	175	4	PCDH11X	23	91090676	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	51156526	91090676	64179884	107	74564											
CXorf48	54967	broad.mit.edu	37	chrX	134305034	134305034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgctgtgggccctgtCgctctgcagggtcggccgtc	1	10	15	15	3	1	0	0	0	1	0	4	0	1	0	3	3	3	4	3	3	0	0			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:134305034C>T	ENST00000344129.2	-	1	288	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	CXorf48_ENST00000276241.6_Missense_Mutation_p.R21Q	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TGGGCCCTGTCGCTCTGCAGG	0.642													19	55					0	0	0	0	T	134305034	C	T	134305034	3	4	387	1	0	0	0	0	1	0	0	0	4143	884	31	1	760	1	CXorf48	23	134305034	Missense_Mutation	SNP	C	TCGA-DQ-5631-01A-01D-1870-08	43214358	134305034	20965526	108	74565											
MTOR	2475	broad.mit.edu	37	chr1	11186691	11186691	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccttacccataagtgtcaAtttccggggcctctgcttgg	6	13	10	12	1	2	0	1	0	1	0	4	0	4	0	4	3	2	1	4	3	3	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:11186691A>T	ENST00000361445.4	-	46	6590	c.6514T>A	c.(6514-6516)Ttg>Atg	p.L2172M	MTOR_ENST00000376838.1_Missense_Mutation_p.L377M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2172					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATAAGTGTCAATTTCCGGGGC	0.512													20	29					0	0	0	0	T	11186691	A	T	11186691	3	4	388	1	0	0	0	0	1	0	0	0	10024	98	4	5	1187	5	MTOR	1	11186691	Missense_Mutation	SNP	A	TCGA-DQ-7588-01A-11D-2078-08		11186691	238063930	1	74566											
EPHB2	2048	broad.mit.edu	37	chr1	23235659	23235659	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactgggacatgaccaacCaggatgtaagtctccaaggg	12	7	11	11	0	1	1	0	1	1	0	2	3	1	3	4	3	2	1	4	3	4	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:23235659C>T	ENST00000400191.3	+	13	2515	c.2497C>T	c.(2497-2499)Cag>Tag	p.Q833*	EPHB2_ENST00000374630.3_Nonsense_Mutation_p.Q833*|EPHB2_ENST00000374627.1_Nonsense_Mutation_p.Q828*|EPHB2_ENST00000374632.3_Nonsense_Mutation_p.Q834*	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	833	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CATGACCAACCAGGATGTAAG	0.592													15	37					0	0	0	0	T	23235659	C	T	23235659	4	4	388	1	0	0	0	0	0	1	0	0	5213	595	21	4	2550	4	EPHB2	1	23235659	Nonsense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	12048968	23235659	226014962	2	74567											
ELAVL4	1996	broad.mit.edu	37	chr1	50642774	50642774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccacaggacagagtttaggGtatggatttgttaactatat	12	14	10	5	0	0	1	0	0	0	1	1	3	1	3	1	3	1	3	1	3	5	7			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:50642774G>T	ENST00000371824.1	+	3	521	c.264G>T	c.(262-264)ggG>ggT	p.G88G	ELAVL4_ENST00000371819.1_Silent_p.G93G|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000448907.2_Silent_p.G91G|ELAVL4_ENST00000357083.4_Silent_p.G105G|ELAVL4_ENST00000371827.1_Silent_p.G88G|ELAVL4_ENST00000371823.4_Silent_p.G88G|ELAVL4_ENST00000371821.1_Silent_p.G93G			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	88	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGAGTTTAGGGTATGGATTTG	0.403													16	29					6.31663e-08	6.74088e-08	1	0	T	50642774	G	T	50642774	2	4	388	1	0	0	0	0	0	0	0	1	5090	1248	44	4		4	ELAVL4	1	50642774	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	27407115	50642774	198607847	3	74568											
DOCK7	85440	broad.mit.edu	37	chr1	63005526	63005526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttccttggagcctcaagtTtatcattaaagtataaatgg	12	16	7	6	0	2	0	2	0	0	0	3	1	3	1	2	2	1	2	2	2	7	8			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:63005526T>A	ENST00000251157.5	-	26	3116	c.3083A>T	c.(3082-3084)aAa>aTa	p.K1028I	DOCK7_ENST00000340370.5_Missense_Mutation_p.K997I	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1028					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						AGCCTCAAGTTTATCATTAAA	0.328													10	17					0	0	0	0	A	63005526	T	A	63005526	3	1	388	1	0	0	0	0	1	0	0	0	4728	1841	64	5	3439	5	DOCK7	1	63005526	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	12362752	63005526	186245095	4	74569											
GBP1	2633	broad.mit.edu	37	chr1	89521862	89521862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaacgatctgatgatGcttcctgattctgtttacaa	10	14	8	9	1	2	4	0	4	2	0	3	5	3	4	1	0	4	3	1	0	3	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:89521862G>A	ENST00000370473.4	-	8	1424	c.1205C>T	c.(1204-1206)gCa>gTa	p.A402V		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	402					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ATCTGATGATGCTTCCTGATT	0.413													48	98					0	0	0	0	A	89521862	G	A	89521862	3	1	388	1	0	0	0	0	1	0	0	0	6322	1319	46	4	589	4	GBP1	1	89521862	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	26516336	89521862	159728759	5	74570											
SV2A	9900	broad.mit.edu	37	chr1	149880767	149880767	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacatggtgaaccacacAcccatcatcatcagagtgat	15	8	7	11	0	3	4	3	3	0	1	3	4	3	4	2	1	1	0	2	1	2	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:149880767A>T	ENST00000369146.3	-	8	1846	c.1356T>A	c.(1354-1356)ggT>ggA	p.G452G	SV2A_ENST00000369145.1_Silent_p.G452G	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	452					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGAACCACACACCCATCATCA	0.532													29	41					0	0	0	0	T	149880767	A	T	149880767	2	4	388	1	0	0	0	0	0	0	0	1	15507	146	6	5		5	SV2A	1	149880767	Silent	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	60358905	149880767	99369854	6	74571											
COPA	1314	broad.mit.edu	37	chr1	160267363	160267363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaatcttcatcatcttgCgaagtttttctaagttgcca	10	15	5	11	1	5	0	2	0	3	0	5	1	5	0	2	0	2	2	2	0	3	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:160267363C>T	ENST00000241704.7	-	20	2379	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	COPA_ENST00000368069.3_Missense_Mutation_p.R726H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	717					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCATCTTGCGAAGTTTTTC	0.438													26	66					0	0	0	0	T	160267363	C	T	160267363	3	4	388	1	0	0	0	0	1	0	0	0	3757	768	27	1	1580	1	COPA	1	160267363	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	10386596	160267363	88983258	7	74572											
PTPRC	5788	broad.mit.edu	37	chr1	198713186	198713186	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgaaattgtaggccCagtacatcttgatccatcag	10	14	8	9	0	3	2	1	2	2	0	4	2	4	2	2	1	1	3	2	1	3	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:198713186C>T	ENST00000367376.2	+	26	2866	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*	PTPRC_ENST00000594404.1_Nonsense_Mutation_p.Q738*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.Q740*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q851*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q901*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	899	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTGTAGGCCCAGTACATCTT	0.328													6	25					0	0	0	0	T	198713186	C	T	198713186	4	4	388	1	0	0	0	0	0	1	0	0	12879	595	21	4	2804	4	PTPRC	1	198713186	Nonsense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	38445823	198713186	50537435	8	74573											
ELF3	1999	broad.mit.edu	37	chr1	201981564	201981564	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctagacccagggccctttGgtgagaacccgttttctcct	6	11	9	15	1	1	2	0	1	1	2	2	3	1	2	5	2	1	1	5	2	2	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:201981564G>T	ENST00000359651.3	+	3	3670	c.478_splice	c.e3+1	p.D160_splice	ELF3_ENST00000367283.3_Splice_Site_p.D160_splice|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Splice_Site_p.D160_splice			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	160				DQ -> GE (in Ref. 7; CAD29859).	epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGGGCCCTTTGGTGAGAACCC	0.577													3	47					0.115264	0.116899	1	0	T	201981564	G	T	201981564	5	4	388	1	0	0	0	0	0	0	1	0	5093	1362	47	4	488	4	ELF3	1	201981564	Splice_Site	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	3268378	201981564	47269057	9	74574											
KLHL12	59349	broad.mit.edu	37	chr1	202887508	202887508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagaactcacagcaggcttGtttcacacctaggacagaca	14	8	8	11	0	2	2	2	0	0	2	2	3	2	3	1	2	2	3	1	2	3	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:202887508G>T	ENST00000367261.3	-	4	576	c.358C>A	c.(358-360)Caa>Aaa	p.Q120K	KLHL12_ENST00000435533.3_Missense_Mutation_p.Q158K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	120					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGCAGGCTTGTTTCACACCT	0.428													26	34					3.08376e-08	3.34074e-08	1	0	T	202887508	G	T	202887508	3	4	388	1	0	0	0	0	1	0	0	0	8420	1386	48	4	1384	4	KLHL12	1	202887508	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	905944	202887508	46363113	10	74575											
KLHDC8A	55220	broad.mit.edu	37	chr1	205308854	205308854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctagggacacccacatGtccttcagcatgtcatagtg	9	10	11	11	0	2	0	2	0	0	0	3	1	3	1	2	2	2	2	2	2	2	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:205308854G>T	ENST00000367156.3	-	6	1275	c.459C>A	c.(457-459)gaC>gaA	p.D153E	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D153E|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.D19E|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D153E|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.D40E	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	153										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACCCACATGTCCTTCAGCA	0.552													9	28					3.09899e-07	3.28263e-07	1	0	T	205308854	G	T	205308854	3	4	388	1	0	0	0	0	1	0	0	0	8414	1368	48	4	609	4	KLHDC8A	1	205308854	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	2421346	205308854	43941767	11	74576											
PTPN14	5784	broad.mit.edu	37	chr1	214585062	214585062	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactctctgaggaaatcttGagaatcaaactgattatagt	15	13	7	6	0	3	3	1	3	2	1	4	5	3	4	0	1	2	0	0	1	6	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:214585062G>A	ENST00000366956.5	-	5	669	c.475C>T	c.(475-477)Caa>Taa	p.Q159*	PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q159*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	159	FERM.		Q -> E (in a breast cancer sample; somatic mutation).		lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.Q159E(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)		AGGAAATCTTGAGAATCAAAC	0.303													14	25					0	0	0	0	A	214585062	G	A	214585062	4	1	388	1	0	0	0	0	0	1	0	0	12863	1299	45	2	3148	2	PTPN14	1	214585062	Nonsense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	9276208	214585062	34665559	12	74577											
MIA3	375056	broad.mit.edu	37	chr1	222803326	222803326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcatagtgacaagagggagGacttacttatcataagcagc	14	8	12	7	0	1	2	1	1	0	1	1	4	1	4	0	3	3	2	0	3	5	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:222803326G>C	ENST00000344922.5	+	4	2789	c.2764G>C	c.(2764-2766)Gac>Cac	p.D922H	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D922H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	922					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAAGAGGGAGGACTTACTTAT	0.468													6	49					0	0	0	0	C	222803326	G	C	222803326	3	2	388	1	0	0	0	0	1	0	0	0	9634	1174	41	2	2778	2	MIA3	1	222803326	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	8218264	222803326	26447295	13	74578											
OR2W3	343171	broad.mit.edu	37	chr1	248059405	248059405	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccgctgtgggcaccacGaggtggaccacttcctgcgt	6	8	12	15	3	0	0	0	0	0	0	1	2	1	1	5	3	2	2	5	3	1	2	rs139271211		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:248059405G>T	ENST00000537741.1	+	3	774	c.517G>T	c.(517-519)Gag>Tag	p.E173*	OR2W3_ENST00000360358.3_Nonsense_Mutation_p.E173*			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657													27	33					2.36697e-06	2.47064e-06	1	0	T	248059405	G	T	248059405	4	4	388	1	0	0	0	0	0	1	0	0	11104	1059	37	3	519	3	OR2W3	1	248059405	Nonsense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	25256079	248059405	1191216	14	74579											
NRBP1	29959	broad.mit.edu	37	chr2	27662654	27662654	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcattcaaaagtgcctgCagtctgagcctgctcgcaga	10	10	10	11	1	3	2	2	1	1	1	4	2	3	2	2	0	4	4	2	0	2	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:27662654C>T	ENST00000233557.3	+	12	1757	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	NRBP1_ENST00000379852.3_Nonsense_Mutation_p.Q309*|NRBP1_ENST00000379863.3_Nonsense_Mutation_p.Q317*			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	309	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AAAGTGCCTGCAGTCTGAGCC	0.502													18	133					0	0	0	0	T	27662654	C	T	27662654	4	4	388	1	0	0	0	0	0	1	0	0	10713	711	25	4	963	4	NRBP1	2	27662654	Nonsense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08		27662654	215536719	15	74580											
ABCG8	64241	broad.mit.edu	37	chr2	44104782	44104782	+	Nonsense_Mutation	SNP	T	T	A																															cagttcagcagaagaacttaTaaaatgcctctcgggaacct																								rs147582834	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:44104782T>A	ENST00000272286.2	+	12	1929	c.1839T>A	c.(1837-1839)taT>taA	p.Y613*		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	613	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAGAACTTATAAAATGCCTC	0.522											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	33					0	0	0	0	A	44104782	T	A	44104782	4	1	388	1	0	0	0	0	0	1	0	0	72	1413	49	5	1885	5	ABCG8	2	44104782	Nonsense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	16442128	44104782	199094591	16	74581	1004	2									
ABCG8	64241	broad.mit.edu	37	chr2	44104784	44104784	+	Missense_Mutation	SNP	A	A	T																															gttcagcagaagaacttataAaatgcctctcgggaacctca																										TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:44104784A>T	ENST00000272286.2	+	12	1931	c.1841A>T	c.(1840-1842)aAa>aTa	p.K614I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	614	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAACTTATAAAATGCCTCTC	0.517											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	32					0	0	0	0	T	44104784	A	T	44104784	3	4	388	1	0	0	0	0	1	0	0	0	72	14	1	5	1887	5	ABCG8	2	44104784	Missense_Mutation	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	2	44104784	199094589	17	74582	1004	2									
EGR4	1961	broad.mit.edu	37	chr2	73518918	73518918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagcgaaggccttggcGtgcggccgcgggcagaagca	8	3	19	11	5	0	1	0	0	0	1	0	2	0	1	2	5	3	3	2	5	3	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:73518918G>A	ENST00000545030.1	-	2	1511	c.1437C>T	c.(1435-1437)caC>caT	p.H479H	EGR4_ENST00000436467.2_Silent_p.H376H	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	375						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGCCTTGGCGTGCGGCCGCG	0.716													5	14					0	0	0	0	A	73518918	G	A	73518918	2	1	388	1	0	0	0	0	0	0	0	1	5010	1136	40	1		1	EGR4	2	73518918	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	29414134	73518918	169680455	18	74583											
THSD7B	80731	broad.mit.edu	37	chr2	137814025	137814025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggagactgtggtcccGgaggagtccagagtcgggca	9	6	17	9	2	0	2	0	0	0	2	3	5	2	4	2	5	1	2	2	5	1	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:137814025G>A	ENST00000409968.1	+	3	353	c.175G>A	c.(175-177)Gga>Aga	p.G59R	THSD7B_ENST00000413152.2_Missense_Mutation_p.G28R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G59R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTGGTCCCGGAGGAGTCCA	0.493													16	30					0	0	0	0	A	137814025	G	A	137814025	3	1	388	1	0	0	0	0	1	0	0	0	15974	1117	39	1	88	1	THSD7B	2	137814025	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	64295107	137814025	105385348	19	74584											
RIF1	55183	broad.mit.edu	37	chr2	152311418	152311418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtttttagcaccacagaGaccttcagattggtccaaaa	12	13	7	9	0	1	2	1	0	0	2	2	3	2	2	3	1	1	2	3	1	3	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:152311418G>A	ENST00000243326.4	+	21	2837	c.2354G>A	c.(2353-2355)aGa>aAa	p.R785K	RIF1_ENST00000444746.2_Missense_Mutation_p.R785K|RIF1_ENST00000430328.2_Missense_Mutation_p.R785K|RIF1_ENST00000428287.2_Missense_Mutation_p.R785K|RIF1_ENST00000453091.2_Missense_Mutation_p.R785K			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	785					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCACCACAGAGACCTTCAGAT	0.318													6	34					0	0	0	0	A	152311418	G	A	152311418	3	1	388	1	0	0	0	0	1	0	0	0	13442	942	33	2	2436	2	RIF1	2	152311418	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	14497393	152311418	90887955	20	74585											
CYBRD1	79901	broad.mit.edu	37	chr2	172409921	172409921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccgagcatttctcatGcccatacatgtttattctgg	7	16	6	12	1	3	0	1	0	3	0	6	1	4	0	2	1	3	2	2	1	2	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:172409921G>T	ENST00000321348.4	+	3	666	c.468G>T	c.(466-468)atG>atT	p.M156I	CYBRD1_ENST00000375252.3_Missense_Mutation_p.A87S|CYBRD1_ENST00000409484.1_Missense_Mutation_p.M98I	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	156	Cytochrome b561.		M -> T (in dbSNP:rs16859487).		cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						CATTTCTCATGCCCATACATG	0.393													3	49					1	1	1	0	T	172409921	G	T	172409921	3	4	388	1	0	0	0	0	1	0	0	0	4166	1319	46	4	478	4	CYBRD1	2	172409921	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	20098503	172409921	70789452	21	74586											
PDE1A	5136	broad.mit.edu	37	chr2	183066183	183066183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctgcaggaaaaactcctCcattagggccatggtccacc	11	7	8	15	0	0	0	0	0	0	0	3	1	3	1	6	3	2	1	6	3	3	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:183066183C>T	ENST00000435564.1	-	10	1356	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	PDE1A_ENST00000358139.2_Missense_Mutation_p.E386K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E386K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E386K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E370K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E282K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E370K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E352K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E386K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	386	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAAAACTCCTCCATTAGGGCC	0.483													35	40					0	0	0	0	T	183066183	C	T	183066183	3	4	388	1	0	0	0	0	1	0	0	0	11704	864	30	2	549	2	PDE1A	2	183066183	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	10656262	183066183	60133190	22	74587											
HECW2	57520	broad.mit.edu	37	chr2	197138837	197138837	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcctgcatgtcgagaaTcttctcctacctgcaaacag	9	11	9	12	1	2	1	0	0	2	1	5	2	3	1	3	1	4	2	3	1	3	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:197138837T>A	ENST00000260983.2	-	16	3328	c.3146A>T	c.(3145-3147)gAt>gTt	p.D1049V	HECW2_ENST00000409111.1_Missense_Mutation_p.D693V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1049	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGTCGAGAATCTTCTCCTAC	0.448													14	15					0	0	0	0	A	197138837	T	A	197138837	3	1	388	1	0	0	0	0	1	0	0	0	7093	1435	50	5	1628	5	HECW2	2	197138837	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	14072654	197138837	46060536	23	74588											
OXSR1	9943	broad.mit.edu	37	chr3	38271893	38271893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaaacattgcagagagCaccaaccatttctgaaagag	19	6	8	8	0	1	4	0	1	1	3	1	5	1	4	2	0	4	2	2	0	5	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:38271893C>A	ENST00000311806.3	+	10	1295	c.923C>A	c.(922-924)gCa>gAa	p.A308E	OXSR1_ENST00000446845.1_Missense_Mutation_p.A308E	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	308					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTGCAGAGAGCACCAACCATT	0.289													25	26					5.61819e-17	6.3762e-17	1	0	A	38271893	C	A	38271893	3	1	388	1	0	0	0	0	1	0	0	0	11407	710	25	4	961	4	OXSR1	3	38271893	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08		38271893	159750537	24	74589											
PHLDB2	90102	broad.mit.edu	37	chr3	111681154	111681154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgctcaccagacaacatCtctaggtaagatttatttat	12	14	6	9	0	2	2	1	0	1	2	3	2	2	2	1	1	2	3	1	1	5	7			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:111681154C>G	ENST00000431670.2	+	13	3483	c.3072C>G	c.(3070-3072)atC>atG	p.I1024M	PHLDB2_ENST00000495180.1_Missense_Mutation_p.I515M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.I981M|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000412622.1_Missense_Mutation_p.I981M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.I1008M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.I1024M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1024						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAGACAACATCTCTAGGTAAG	0.438													13	39					0	0	0	0	G	111681154	C	G	111681154	3	3	388	1	0	0	0	0	1	0	0	0	11924	903	32	2	3203	2	PHLDB2	3	111681154	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	73409261	111681154	86341276	25	74590											
KALRN	8997	broad.mit.edu	37	chr3	124103785	124103785	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagatctacaaggcagctCgacacctggaggtgcgcatc	11	6	13	11	2	1	1	0	0	1	1	3	4	1	2	1	4	3	3	1	4	2	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:124103785C>T	ENST00000360013.3	+	11	1985	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.R620*|KALRN_ENST00000240874.3_Nonsense_Mutation_p.R620*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	620					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAGGCAGCTCGACACCTGGA	0.567													23	39					0	0	0	0	T	124103785	C	T	124103785	4	4	388	1	0	0	0	0	0	1	0	0	8028	876	31	1	1900	1	KALRN	3	124103785	Nonsense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	12422631	124103785	73918645	26	74591											
PIK3CB	5291	broad.mit.edu	37	chr3	138431123	138431123	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaagtcaaaaaccatcgtAtttacccacgctacaggata	16	10	5	10	2	1	0	1	0	0	0	2	1	1	1	2	1	3	2	2	1	8	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:138431123A>T	ENST00000477593.1	-	9	1399	c.1326T>A	c.(1324-1326)aaT>aaA	p.N442K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.N442K|PIK3CB_ENST00000544716.1_5'UTR			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	442	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAACCATCGTATTTACCCACG	0.343													7	21					0	0	0	0	T	138431123	A	T	138431123	3	4	388	1	0	0	0	0	1	0	0	0	11986	446	16	5	1944	5	PIK3CB	3	138431123	Missense_Mutation	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	14327338	138431123	59591307	27	74592											
PLSCR4	57088	broad.mit.edu	37	chr3	145913053	145913053	+	Frame_Shift_Del	DEL	C	C	-																															tactgccgatgttggatatgCcatcaagggatttgacctgg																										TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:145913053delC	ENST00000354952.2	-	8	1043	c.803delG	c.(802-804)gcfs	p.G268fs	PLSCR4_ENST00000433593.2_Frame_Shift_Del_p.G163fs|PLSCR4_ENST00000383083.2_Frame_Shift_Del_p.G178fs|PLSCR4_ENST00000446574.2_Frame_Shift_Del_p.G268fs|PLSCR4_ENST00000493382.1_Frame_Shift_Del_p.G268fs	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	268					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GTTGGATATGCCATCAAGGGA	0.398													36	38	---	---	---	---					-	145913053	C	-	145913053	7	5	388	1	0	1	0	1	0	0	0	0	12184	739	26	0	194	0	PLSCR4	3	145913053	Frame_Shift_Del	DEL	C	TCGA-DQ-7588-01A-11D-2078-08	7481930	145913053	52109377	28	74593											
GUF1	60558	broad.mit.edu	37	chr4	44684387	44684387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcaaacttctttcttGccttcgaagcacagctatcg	9	13	7	12	2	2	0	0	0	2	0	4	1	2	0	1	0	5	4	1	0	4	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:44684387G>A	ENST00000281543.5	+	5	738	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	182					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						CTTCTTTCTTGCCTTCGAAGC	0.318													23	69					0	0	0	0	A	44684387	G	A	44684387	3	1	388	1	0	0	0	0	1	0	0	0	6949	1319	46	4	562	4	GUF1	4	44684387	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		44684387	146469889	29	74594											
AASDH	132949	broad.mit.edu	37	chr4	57244333	57244333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgaaaatgctggatatttgGtactatacacttatgaggca	13	12	9	7	1	0	1	0	1	0	0	0	3	0	2	1	3	3	3	1	3	7	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:57244333G>C	ENST00000205214.6	-	4	829	c.649C>G	c.(649-651)Cca>Gca	p.P217A	AASDH_ENST00000502617.1_Missense_Mutation_p.P217A|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.P64A|AASDH_ENST00000451613.1_Missense_Mutation_p.P217A|AASDH_ENST00000513376.1_Missense_Mutation_p.P117A	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	217					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGGATATTTGGTACTATACAC	0.423													32	46					0	0	0	0	C	57244333	G	C	57244333	3	2	388	1	0	0	0	0	1	0	0	0	22	1261	44	4	2695	4	AASDH	4	57244333	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	12559946	57244333	133909943	30	74595											
CNOT6L	246175	broad.mit.edu	37	chr4	78641683	78641683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtggtctgaagggatgtGagggtgtggacacccagtga	10	8	18	5	0	1	3	0	3	1	0	1	6	1	5	1	4	0	0	1	4	2	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:78641683G>A	ENST00000504123.1	-	12	1700	c.1570C>T	c.(1570-1572)Cac>Tac	p.H524Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H524Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	524					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GAAGGGATGTGAGGGTGTGGA	0.488													30	131					0	0	0	0	A	78641683	G	A	78641683	3	1	388	1	0	0	0	0	1	0	0	0	3653	1290	45	2	101	2	CNOT6L	4	78641683	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	21397350	78641683	112512593	31	74596											
GRID2	2895	broad.mit.edu	37	chr4	94377080	94377080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcaatgacgtctactactCtctacaactccatgtggttt	10	14	6	11	1	3	1	1	1	2	0	5	2	4	1	1	1	4	1	1	1	5	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:94377080C>G	ENST00000282020.4	+	11	2071	c.1813C>G	c.(1813-1815)Ctc>Gtc	p.L605V	GRID2_ENST00000510992.1_Missense_Mutation_p.L510V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	605					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTCTACTACTCTCTACAACTC	0.403													29	47					0	0	0	0	G	94377080	C	G	94377080	3	3	388	1	0	0	0	0	1	0	0	0	6822	913	32	2	1855	2	GRID2	4	94377080	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	15735397	94377080	96777196	32	74597											
NAF1	92345	broad.mit.edu	37	chr4	164050333	164050333	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagtctcctgagataccaTatgttctgagttatagaaat	13	14	8	6	0	2	4	0	3	2	2	3	5	2	4	2	0	1	2	2	0	6	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:164050333T>C	ENST00000274054.2	-	8	1394	c.1201A>G	c.(1201-1203)Atg>Gtg	p.M401V	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	401					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGAGATACCATATGTTCTGAG	0.433													21	24					0	0	0	0	C	164050333	T	C	164050333	3	2	388	1	0	0	0	0	1	0	0	0	10210	1406	49	5	428	5	NAF1	4	164050333	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	69673253	164050333	27103943	33	74598											
DNAH5	1767	broad.mit.edu	37	chr5	13900460	13900460	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaagtttacaaacaatTcccctgtgcctggagccttc	10	11	8	12	0	1	0	1	0	0	0	3	1	2	1	4	2	4	1	4	2	4	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:13900460T>A	ENST00000265104.4	-	15	2218	c.2114A>T	c.(2113-2115)gAa>gTa	p.E705V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	705	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACAAACAATTCCCCTGTGCC	0.428									Kartagener syndrome				24	55					0	0	0	0	A	13900460	T	A	13900460	3	1	388	1	0	0	0	0	1	0	0	0	4641	1783	62	5	12020	5	DNAH5	5	13900460	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08		13900460	167014800	34	74599											
PRKAA1	5562	broad.mit.edu	37	chr5	40765031	40765031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggtgtttcagcaaccaaGaatggtactctttcaggatg	10	13	10	8	0	3	1	2	0	1	1	3	2	3	2	1	3	3	3	1	3	4	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:40765031G>A	ENST00000397128.2	-	7	1139	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	PRKAA1_ENST00000354209.3_Silent_p.F392F	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	377					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CAGCAACCAAGAATGGTACTC	0.428													8	34					0	0	0	0	A	40765031	G	A	40765031	2	1	388	1	0	0	0	0	0	0	0	1	12573	933	33	2		2	PRKAA1	5	40765031	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	26864571	40765031	140150229	35	74600											
PRKAA1	5562	broad.mit.edu	37	chr5	40765109	40765109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgggcttgtcgccaaataGaaatctttggcttcattcat	9	14	10	8	1	3	1	2	0	1	1	4	1	3	1	1	3	0	2	1	3	3	5	rs116338283	by1000genomes	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:40765109G>A	ENST00000397128.2	-	7	1061	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	PRKAA1_ENST00000354209.3_Silent_p.F366F	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	351					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.F366L(1)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TCGCCAAATAGAAATCTTTGG	0.433													18	57					0	0	0	0	A	40765109	G	A	40765109	2	1	388	1	0	0	0	0	0	0	0	1	12573	933	33	2		2	PRKAA1	5	40765109	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	78	40765109	140150151	36	74601											
ACTBL2	345651	broad.mit.edu	37	chr5	56777724	56777724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatggatcccactggactCaatgcccagaaaggaaggct	12	7	10	12	0	2	1	2	0	0	1	3	4	3	4	2	4	1	1	2	4	3	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:56777724C>G	ENST00000423391.1	-	1	912	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	271						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCACTGGACTCAATGCCCAGA	0.502													10	30					0	0	0	0	G	56777724	C	G	56777724	3	3	388	1	0	0	0	0	1	0	0	0	194	835	29	2	323	2	ACTBL2	5	56777724	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	16012615	56777724	124137536	37	74602											
CDO1	1036	broad.mit.edu	37	chr5	115148957	115148958	+	Splice_Site	INS	-	-	A																															acaagatttcgggtatacctINSaaaaaaaaacaatatattca																										TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:115148957_115148958insA	ENST00000250535.4	-	2	727		c.e2-2		CDO1_ENST00000502631.1_Splice_Site	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1						inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGGGTATACCTAAAAAAAAACA	0.332													8	21	---	---	---	---					A	115148958	-	A	115148957	8	5	388	1	0	1	1	0	0	0	1	0	3198	1536	53	0	449	0	CDO1	5	115148957	Splice_Site	INS	-	TCGA-DQ-7588-01A-11D-2078-08	58371233	115148957	65766303	38	74603											
PCDHA2	56146	broad.mit.edu	37	chr5	140176801	140176801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgtggggagctggtcttactCgcagcagaggcggcagaggg	7	6	19	9	3	1	2	0	0	1	2	2	3	1	3	0	6	3	4	0	6	1	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:140176801C>G	ENST00000526136.1	+	1	2252	c.2252C>G	c.(2251-2253)tCg>tGg	p.S751W	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S751W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S751W	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCTTACTCGCAGCAGAGG	0.667													16	28					0	0	0	0	G	140176801	C	G	140176801	3	3	388	1	0	0	0	0	1	0	0	0	11595	893	31	3	2254	3	PCDHA2	5	140176801	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	25027844	140176801	40738459	39	74604											
HAVCR1	26762	broad.mit.edu	37	chr5	156464353	156464353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattggccgtcagtagaCtatgttctaggaacagttgc	9	13	12	7	1	2	1	1	0	1	1	2	2	2	2	1	3	2	4	1	3	5	7			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:156464353C>A	ENST00000339252.3	-	6	1389	c.857G>T	c.(856-858)aGt>aTt	p.S286I	HAVCR1_ENST00000425854.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S286I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	281					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTCAGTAGACTATGTTCTAG	0.398													33	36					8.88839e-20	1.01683e-19	1	0	A	156464353	C	A	156464353	3	1	388	1	0	0	0	0	1	0	0	0	7023	565	20	4	249	4	HAVCR1	5	156464353	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	16287552	156464353	24450907	40	74605											
CNOT6	57472	broad.mit.edu	37	chr5	179980420	179980420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataacaacctgttacgagttCtaccttttgagctgggaaaa	13	12	8	8	1	1	1	0	1	1	0	1	3	1	2	2	1	5	3	2	1	6	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:179980420C>G	ENST00000393356.1	+	6	758	c.334C>G	c.(334-336)Cta>Gta	p.L112V	CNOT6_ENST00000502447.1_Intron|CNOT6_ENST00000261951.4_Missense_Mutation_p.L112V			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	112					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTTACGAGTTCTACCTTTTGA	0.353													5	23					0	0	0	0	G	179980420	C	G	179980420	3	3	388	1	0	0	0	0	1	0	0	0	3652	912	32	2	344	2	CNOT6	5	179980420	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	23516067	179980420	934840	41	74606											
RING1	6015	broad.mit.edu	37	chr6	33180132	33180132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaattctggaaggtgtccCggccactggagctgtgctat	9	10	13	9	1	1	1	0	0	1	1	2	3	2	3	2	4	2	2	2	4	3	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:33180132C>T	ENST00000374656.4	+	7	1385	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	393	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAAGGTGTCCCGGCCACTGGA	0.577													4	7					0	0	0	0	T	33180132	C	T	33180132	3	4	388	1	0	0	0	0	1	0	0	0	13459	643	23	1	1199	1	RING1	6	33180132	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08		33180132	137934935	42	74607											
ABCC10	89845	broad.mit.edu	37	chr6	43413617	43413617	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcaccctgtctccactgtAtagccatctggccgatacct	7	11	6	17	1	3	0	1	0	2	0	4	1	3	0	6	1	2	1	6	1	3	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:43413617A>G	ENST00000244533.3	+	13	3586	c.3227A>G	c.(3226-3228)tAt>tGt	p.Y1076C	ABCC10_ENST00000372530.4_Missense_Mutation_p.Y1104C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1104	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTCCACTGTATAGCCATCTG	0.637													21	43					0	0	0	0	G	43413617	A	G	43413617	3	3	388	1	0	0	0	0	1	0	0	0	50	449	16	5	3277	5	ABCC10	6	43413617	Missense_Mutation	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	10233485	43413617	127701450	43	74608											
GFRAL	389400	broad.mit.edu	37	chr6	55223758	55223758	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatgaagatgagaattgCattagcaccttaagcaaaca	16	9	8	8	0	0	3	0	2	0	2	0	4	0	3	2	0	5	3	2	0	5	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:55223758C>A	ENST00000340465.2	+	6	860	c.774C>A	c.(772-774)tgC>tgA	p.C258*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	258						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATGAGAATTGCATTAGCACCT	0.413													28	51					8.24728e-16	9.28631e-16	1	0	A	55223758	C	A	55223758	4	1	388	1	0	0	0	0	0	1	0	0	6402	718	25	4	796	4	GFRAL	6	55223758	Nonsense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	11810141	55223758	115891309	44	74609											
HDAC9	9734	broad.mit.edu	37	chr7	18688255	18688255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcaacagcaacaccaGcaattcttggagaagcagaa	16	7	8	10	0	3	2	2	0	1	2	3	3	3	2	1	1	5	3	1	1	5	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:18688255G>C	ENST00000406451.3	+	11	1557	c.1407G>C	c.(1405-1407)caG>caC	p.Q469H	HDAC9_ENST00000456174.2_Missense_Mutation_p.Q441H|HDAC9_ENST00000441542.2_Missense_Mutation_p.Q472H|HDAC9_ENST00000432645.2_Missense_Mutation_p.Q469H|HDAC9_ENST00000405010.3_Missense_Mutation_p.Q469H|HDAC9_ENST00000406072.1_Missense_Mutation_p.Q456H|HDAC9_ENST00000401921.1_Missense_Mutation_p.Q428H|HDAC9_ENST00000417496.2_Missense_Mutation_p.Q467H|HDAC9_ENST00000524023.1_Missense_Mutation_p.Q392H|HDAC9_ENST00000428307.2_Missense_Mutation_p.Q425H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	469					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAACACCAGCAATTCTTGG	0.498													16	23					0	0	0	0	C	18688255	G	C	18688255	3	2	388	1	0	0	0	0	1	0	0	0	7064	962	34	4	1454	4	HDAC9	7	18688255	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		18688255	140450408	45	74610											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26232879	26232879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttataaattacctccaccaTatggtccccccatgttcctg	9	14	4	14	0	0	0	0	0	0	0	3	0	3	0	7	1	1	1	7	1	5	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:26232879T>C	ENST00000354667.4	-	10	1160	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y319C	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	331	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACCTCCACCATATGGTCCCCC	0.358			T	ETV1	prostate								29	59					0	0	0	0	C	26232879	T	C	26232879	3	2	388	1	0	0	0	0	1	0	0	0	7309	1406	49	5	77	5	HNRNPA2B1	7	26232879	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	7544624	26232879	132905784	46	74611											
SFRP4	6424	broad.mit.edu	37	chr7	37955807	37955807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggttgtacatcttcatGaggggctcgcagtcgtcgcg	5	12	14	10	4	2	1	1	1	1	0	5	1	2	1	0	3	1	4	0	3	1	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:37955807G>A	ENST00000436072.2	-	1	710	c.333C>T	c.(331-333)ctC>ctT	p.L111L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	111	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACATCTTCATGAGGGGCTCGC	0.627													19	33					0	0	0	0	A	37955807	G	A	37955807	2	1	388	1	0	0	0	0	0	0	0	1	14250	1277	45	2		2	SFRP4	7	37955807	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	11722928	37955807	121182856	47	74612											
SEMA3A	10371	broad.mit.edu	37	chr7	83643661	83643661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggtgggcactaatgaacTttggatctgagagacaaata	14	10	12	5	0	1	4	0	3	1	1	1	6	1	5	0	3	1	1	0	3	4	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:83643661T>A	ENST00000265362.3	-	7	988	c.674A>T	c.(673-675)aAg>aTg	p.K225M	SEMA3A_ENST00000436949.1_Missense_Mutation_p.K225M	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	225	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACTAATGAACTTTGGATCTGA	0.333													11	11					0	0	0	0	A	83643661	T	A	83643661	3	1	388	1	0	0	0	0	1	0	0	0	14111	1609	56	5	1685	5	SEMA3A	7	83643661	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	45687854	83643661	75495002	48	74613											
SSPO	23145	broad.mit.edu	37	chr7	149499116	149499117	+	RNA	DEL	AT	AT	-																															ccctctgagccccggcccccAtgcccctgcagtggactgcg																								rs61047652		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCCCCATGCCCCTGCAG	0.703													3	5	---	---	---	---					-	149499117	AT	-	149499116	6	5	388	0	1	1	0	1	0	0	0	0	15279	232	8	0		0	SSPO	7	149499116	RNA	DEL	AT	TCGA-DQ-7588-01A-11D-2078-08	65855455	149499116	9639547	49	74614											
BLK	640	broad.mit.edu	37	chr8	11412840	11412840	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttttcttccctaatgcaGagaagggggatggtctatgc	8	13	12	8	0	3	1	0	0	3	1	4	3	4	2	1	3	2	1	1	3	3	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:11412840G>C	ENST00000259089.4	+	8	1211		c.e8-1		BLK_ENST00000529894.1_Splice_Site	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase						intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCCTAATGCAGAGAAGGGGGA	0.627													42	69					0	0	0	0	C	11412840	G	C	11412840	5	2	388	1	0	0	0	0	0	0	1	0	1449	956	33	2	645	2	BLK	8	11412840	Splice_Site	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		11412840	134951182	50	74615											
LZTS1	11178	broad.mit.edu	37	chr8	20107757	20107757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccctccagcttgccccGcgtgtccttcagctgtgcct	3	10	10	18	2	1	0	1	0	0	0	3	0	3	0	6	1	4	2	6	1	0	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:20107757G>A	ENST00000381569.1	-	4	1624	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R423W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R423W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	423					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			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)		AGCTTGCCCCGCGTGTCCTTC	0.647													67	114					0	0	0	0	A	20107757	G	A	20107757	3	1	388	1	0	0	0	0	1	0	0	0	9203	1086	38	1	527	1	LZTS1	8	20107757	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	8694917	20107757	126256265	51	74616											
LGI3	203190	broad.mit.edu	37	chr8	22013886	22013889	+	Frame_Shift_Del	DEL	GCCT	GCCT	-																															agggcaggttcctgggcaccGcctttgagtccacgcagaag																										TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:22013886_22013889delGCCT	ENST00000306317.2	-	1	456_459	c.167_170delAGGC	c.(166-171)agfs	p.KA56fs	LGI3_ENST00000424267.2_Frame_Shift_Del_p.KA56fs	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	56	LRRNT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				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)		CCTGGGCACCGCCTTTGAGTCCAC	0.672													8	23	---	---	---	---					-	22013889	GCCT	-	22013886	7	5	388	1	0	1	0	1	0	0	0	0	8807	1087	38	0	1508	0	LGI3	8	22013886	Frame_Shift_Del	DEL	GCCT	TCGA-DQ-7588-01A-11D-2078-08	1906129	22013886	124350136	52	74617											
CSMD3	114788	broad.mit.edu	37	chr8	113871401	113871401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtattcactgctgtgatgacCcagacacattgtgcattgct	9	13	9	10	0	1	3	1	2	0	1	1	3	1	3	1	0	3	4	1	0	1	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:113871401C>G	ENST00000297405.5	-	11	1972	c.1728G>C	c.(1726-1728)tgG>tgC	p.W576C	CSMD3_ENST00000343508.3_Missense_Mutation_p.W536C|CSMD3_ENST00000352409.3_Missense_Mutation_p.W576C|CSMD3_ENST00000455883.2_Missense_Mutation_p.W472C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	576	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGTGATGACCCAGACACATT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	54					0	0	0	0	G	113871401	C	G	113871401	3	3	388	1	0	0	0	0	1	0	0	0	3978	624	22	4	9639	4	CSMD3	8	113871401	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	91857515	113871401	32492621	53	74618											
SLC30A8	169026	broad.mit.edu	37	chr8	118170016	118170016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgtgagcgcctgctgtatCctgattaccagatccaggcg	8	10	11	12	2	0	3	0	2	0	1	2	3	2	3	4	1	3	2	4	1	2	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:118170016C>G	ENST00000427715.2	+	7	792	c.358C>G	c.(358-360)Cct>Gct	p.P120A	SLC30A8_ENST00000519688.1_Missense_Mutation_p.P120A|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P120A|SLC30A8_ENST00000456015.2_Missense_Mutation_p.P169A	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	169					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTGCTGTATCCTGATTACCA	0.552													81	116					0	0	0	0	G	118170016	C	G	118170016	3	3	388	1	0	0	0	0	1	0	0	0	14649	855	30	2	519	2	SLC30A8	8	118170016	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	4298615	118170016	28194006	54	74619											
SMARCA2	6595	broad.mit.edu	37	chr9	2101568	2101568	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctatctctctcttttaaAggaatcctttgctgaacacc	9	17	4	11	0	3	1	0	1	3	0	6	2	4	2	2	1	2	1	2	1	5	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr9:2101568A>G	ENST00000382203.1	+	22	3287		c.e22-1		SMARCA2_ENST00000349721.2_Splice_Site|SMARCA2_ENST00000357248.2_Splice_Site|SMARCA2_ENST00000382194.1_Splice_Site			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2						chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTCTTTTAAAGGAATCCTTT	0.274													2	17					0	0	0	0	G	2101568	A	G	2101568	5	3	388	1	0	0	0	0	0	0	1	0	14857	86	3	5	3159	5	SMARCA2	9	2101568	Splice_Site	SNP	A	TCGA-DQ-7588-01A-11D-2078-08		2101568	139111863	55	74620											
TRAF2	7186	broad.mit.edu	37	chr9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaagctgtggctggccGcatacccgccatcttctccc	6	8	10	17	2	2	0	0	0	2	0	3	1	2	1	5	3	2	3	5	3	2	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr9:139815644G>A	ENST00000359662.3	+	9	1316	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H|TRAF2_ENST00000247668.2_Missense_Mutation_p.R372H			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|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|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592													4	63					0	0	0	0	A	139815644	G	A	139815644	3	1	388	1	0	0	0	0	1	0	0	0	16533	1087	38	1	1145	1	TRAF2	9	139815644	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	137714076	139815644	1397787	56	74621											
CAMK1D	57118	broad.mit.edu	37	chr10	12856261	12856261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgagcagatcctcaaggcgGaatatgagtttgactctccc	10	11	10	10	1	2	4	1	3	1	1	4	5	3	5	2	2	1	2	2	2	3	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:12856261G>A	ENST00000378847.3	+	7	1046	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	CAMK1D_ENST00000378845.1_Missense_Mutation_p.E237K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	237	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCTCAAGGCGGAATATGAGTT	0.522													27	26					0	0	0	0	A	12856261	G	A	12856261	3	1	388	1	0	0	0	0	1	0	0	0	2622	1175	41	2	735	2	CAMK1D	10	12856261	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		12856261	122678486	57	74622											
KIAA1217	56243	broad.mit.edu	37	chr10	24762687	24762687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatcaaggaaatatccGgatagccatttgcctacact	15	9	7	10	1	1	1	1	0	0	1	2	3	2	3	3	2	3	0	3	2	6	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:24762687G>A	ENST00000376451.2	+	2	791	c.531G>A	c.(529-531)ccG>ccA	p.P177P	KIAA1217_ENST00000376462.1_Silent_p.P379P|KIAA1217_ENST00000430453.2_Silent_p.P380P|KIAA1217_ENST00000307544.6_Silent_p.P177P|KIAA1217_ENST00000458595.1_Silent_p.P459P|KIAA1217_ENST00000396446.1_Silent_p.P177P|KIAA1217_ENST00000396445.1_Silent_p.P177P|KIAA1217_ENST00000376454.3_Silent_p.P459P|KIAA1217_ENST00000376452.3_Silent_p.P459P			Q5T5P2	SKT_HUMAN	KIAA1217	459					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAAATATCCGGATAGCCATT	0.502													5	51					0	0	0	0	A	24762687	G	A	24762687	2	1	388	1	0	0	0	0	0	0	0	1	8267	1103	39	1		1	KIAA1217	10	24762687	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	11906426	24762687	110772060	58	74623											
C10orf91	170393	broad.mit.edu	37	chr10	134261557	134261557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttcaggaatgcggccttcGaagcctgaagcggggaatgg	9	8	16	8	3	1	1	1	1	0	0	2	4	1	3	2	5	3	1	2	5	4	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:134261557G>A	ENST00000392630.3	+	3	491	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	C10orf91_ENST00000321248.2_Missense_Mutation_p.E144K	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	144			E -> G (in dbSNP:rs11146376).							endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TGCGGCCTTCGAAGCCTGAAG	0.662													22	59					0	0	0	0	A	134261557	G	A	134261557	3	1	388	1	0	0	0	0	1	0	0	0	1634	1059	37	1	440	1	C10orf91	10	134261557	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	109498870	134261557	1273190	59	74624											
KCNQ1	3784	broad.mit.edu	37	chr11	2799262	2799262	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgcctgaaccgagtagaaGacaaggtaggctcacgcgcc	11	4	12	14	4	1	3	1	1	0	2	1	4	1	3	4	2	1	3	4	2	5	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:2799262G>C	ENST00000155840.5	+	15	1897	c.1789G>C	c.(1789-1791)Gac>Cac	p.D597H	KCNQ1_ENST00000335475.5_Missense_Mutation_p.D470H|KCNQ1_ENST00000526095.1_3'UTR	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	597	Subunits assembly domain.				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCGAGTAGAAGACAAGGTAGG	0.612													21	39					0	0	0	0	C	2799262	G	C	2799262	3	2	388	1	0	0	0	0	1	0	0	0	8135	942	33	2	1856	2	KCNQ1	11	2799262	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		2799262	132207254	60	74625											
HBD	3045	broad.mit.edu	37	chr11	5255582	5255582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgataccaacctgcccagggCctcaccaccaactgcatcca	11	6	6	18	0	1	1	1	1	0	0	2	1	2	1	7	1	5	1	7	1	3	1	rs35152987	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:5255582C>G	ENST00000380299.3	-	1	296	c.82G>C	c.(82-84)Gcc>Ccc	p.A28P	HBD_ENST00000292901.3_Missense_Mutation_p.A28P	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	28			A -> S (in Yialousa; dbSNP:rs35152987).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCCAGGGCCTCACCACCA	0.517													19	38					0	0	0	0	G	5255582	C	G	5255582	3	3	388	1	0	0	0	0	1	0	0	0	7029	739	26	4	373	4	HBD	11	5255582	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	2456320	5255582	129750934	61	74626											
OR6A2	8590	broad.mit.edu	37	chr11	6815960	6815960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcacacatcccttctatAcatttctgctagctttcttg	8	18	3	12	0	4	0	1	0	3	0	5	0	5	0	1	0	3	2	1	0	3	8			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:6815960A>G	ENST00000332601.3	-	1	1168	c.980T>C	c.(979-981)gTa>gCa	p.V327A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCCTTCTATACATTTCTGCT	0.458													30	41					0	0	0	0	G	6815960	A	G	6815960	3	3	388	1	0	0	0	0	1	0	0	0	11257	391	14	5	7	5	OR6A2	11	6815960	Missense_Mutation	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	1560378	6815960	128190556	62	74627											
NLRP14	338323	broad.mit.edu	37	chr11	7081185	7081185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaacttctcttctacaCaacaagagcctgacgcatct	11	11	5	14	1	4	2	1	1	3	1	5	2	4	2	1	0	4	1	1	0	4	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:7081185C>A	ENST00000299481.4	+	9	3040	c.2694C>A	c.(2692-2694)caC>caA	p.H898Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	898					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTCTTCTACACAACAAGAGCC	0.443													42	86					1.47244e-24	1.71187e-24	1	0	A	7081185	C	A	7081185	3	1	388	1	0	0	0	0	1	0	0	0	10546	477	17	4	2724	4	NLRP14	11	7081185	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	265225	7081185	127925331	63	74628											
USP47	55031	broad.mit.edu	37	chr11	11913622	11913622	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcagccaaagctactcCtactcatctattttgaataa	13	14	4	10	0	3	1	2	1	1	0	4	1	4	1	2	0	4	1	2	0	7	7			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:11913622C>G	ENST00000339865.5	+	3	1024	c.261C>G	c.(259-261)tcC>tcG	p.S87S	USP47_ENST00000527733.1_Silent_p.S155S|USP47_ENST00000399455.2_Silent_p.S175S|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	175					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAAGCTACTCCTACTCATCTA	0.403													29	71					0	0	0	0	G	11913622	C	G	11913622	2	3	388	1	0	0	0	0	0	0	0	1	17174	668	24	4		4	USP47	11	11913622	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	4832437	11913622	123092894	64	74629											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636404	18636404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggtcgtcgaagttcatGtggactgctcacaggccggc	7	9	13	12	3	2	0	2	0	0	0	4	2	2	1	1	4	1	2	1	4	1	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:18636404G>C	ENST00000336349.5	-	3	1652	c.1417C>G	c.(1417-1419)Cat>Gat	p.H473D		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	473	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CGAAGTTCATGTGGACTGCTC	0.622													12	49					0	0	0	0	C	18636404	G	C	18636404	3	2	388	1	0	0	0	0	1	0	0	0	15216	1377	48	4	656	4	SPTY2D1	11	18636404	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	6722782	18636404	116370112	65	74630											
TMEM132A	54972	broad.mit.edu	37	chr11	60702152	60702152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacctcgtggcgccacaCgcccgcgtgctggactcgcg	4	6	12	19	7	0	0	0	0	0	0	3	1	1	1	4	2	1	1	4	2	0	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:60702152C>T	ENST00000005286.4	+	9	1908	c.1755C>T	c.(1753-1755)caC>caT	p.H585H	TMEM132A_ENST00000453848.2_Silent_p.H584H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	584						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCGCCACACGCCCGCGTGC	0.721													10	9					0	0	0	0	T	60702152	C	T	60702152	2	4	388	1	0	0	0	0	0	0	0	1	16139	535	19	1		1	TMEM132A	11	60702152	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	42065748	60702152	74304364	66	74631											
AHNAK	79026	broad.mit.edu	37	chr11	62293458	62293458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttccttcaggtccttcgaTattcacatcgggacattcaa	9	14	6	12	2	3	0	3	0	0	0	7	2	5	1	2	2	0	0	2	2	2	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:62293458T>C	ENST00000378024.4	-	5	8705	c.8431A>G	c.(8431-8433)Atc>Gtc	p.I2811V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2811					nervous system development	nucleus	protein binding			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)				GGTCCTTCGATATTCACATCG	0.448													22	153					0	0	0	0	C	62293458	T	C	62293458	3	2	388	1	0	0	0	0	1	0	0	0	414	1406	49	5	9361	5	AHNAK	11	62293458	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	1591306	62293458	72713058	67	74632											
ACY3	91703	broad.mit.edu	37	chr11	67412797	67412797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagtccaggttgtagctctCctccccagaccgctggtaca	8	9	10	14	1	1	2	0	0	1	2	4	2	3	2	5	2	2	5	5	2	2	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:67412797C>T	ENST00000255082.3	-	5	657	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ACY3_ENST00000529256.1_Missense_Mutation_p.E42K	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	163					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TTGTAGCTCTCCTCCCCAGAC	0.657													6	19					0	0	0	0	T	67412797	C	T	67412797	3	4	388	1	0	0	0	0	1	0	0	0	227	864	30	2	488	2	ACY3	11	67412797	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	5119339	67412797	67593719	68	74633											
C11orf54	28970	broad.mit.edu	37	chr11	93483549	93483549	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagataactttgctgatgtCcaggtctctgtagttgattg	10	15	10	6	0	1	3	0	2	1	1	3	3	2	3	1	1	2	3	1	1	3	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:93483549C>A	ENST00000528288.1	+	3	328	c.93C>A	c.(91-93)gtC>gtA	p.V31V	C11orf54_ENST00000354421.3_Silent_p.V31V|C11orf54_ENST00000528099.1_Silent_p.V31V|C11orf54_ENST00000540113.1_Silent_p.V12V|C11orf54_ENST00000331239.4_Silent_p.V31V	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	31						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTGATGTCCAGGTCTCTG	0.338													20	14					3.5997e-14	4.02154e-14	1	0	A	93483549	C	A	93483549	2	1	388	1	0	0	0	0	0	0	0	1	1660	842	30	2		2	C11orf54	11	93483549	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	26070752	93483549	41522967	69	74634											
TAS2R19	259294	broad.mit.edu	37	chr12	11174444	11174444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttgatgtgattatacacaGaaagtaaatggcaaataaca	19	10	8	4	0	0	3	0	2	0	1	0	3	0	3	0	1	2	3	0	1	7	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:11174444G>A	ENST00000390673.2	-	1	775	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	243					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATTATACACAGAAAGTAAATG	0.428													35	95					0	0	0	0	A	11174444	G	A	11174444	2	1	388	1	0	0	0	0	0	0	0	1	15661	933	33	2		2	TAS2R19	12	11174444	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		11174444	122677451	70	74635											
PLEKHA5	54477	broad.mit.edu	37	chr12	19501415	19501415	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaatggagaagaaaaatCagaacctgtttcagagatag	18	9	9	5	0	3	4	2	0	1	4	3	6	3	4	1	1	1	1	1	1	6	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:19501415C>A	ENST00000538714.1	+	21	2661	c.2657C>A	c.(2656-2658)tCa>tAa	p.S886*	PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.S886*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.S828*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.S586*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.S891*|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.S817*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.S994*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.S810*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	828							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GAAGAAAAATCAGAACCTGTT	0.353													26	36					1.33986e-20	1.54516e-20	1	0	A	19501415	C	A	19501415	4	1	388	1	0	0	0	0	0	1	0	0	12131	838	29	2	2875	2	PLEKHA5	12	19501415	Nonsense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	8326971	19501415	114350480	71	74636											
IPO8	10526	broad.mit.edu	37	chr12	30787082	30787082	+	Frame_Shift_Del	DEL	A	A	-																															caaggtcaagtggagtactgAacccctcaagcgcggtttct																										TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:30787082delA	ENST00000256079.4	-	23	3172	c.2834delT	c.(2833-2835)tcfs	p.F945fs	IPO8_ENST00000544829.1_Frame_Shift_Del_p.F740fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	945					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGGAGTACTGAACCCCTCAAG	0.413													28	38	---	---	---	---					-	30787082	A	-	30787082	7	5	388	1	0	1	0	1	0	0	0	0	7851	246	9	0	291	0	IPO8	12	30787082	Frame_Shift_Del	DEL	A	TCGA-DQ-7588-01A-11D-2078-08	11285667	30787082	103064813	72	74637											
KRT86	3892	broad.mit.edu	37	chr12	52699102	52699102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acagccgggacctgaacatgGactgcatcattgccgagatc	11	7	11	12	2	1	2	1	1	0	1	2	5	1	4	3	2	4	1	3	2	1	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:52699102G>C	ENST00000293525.5	+	5	866	c.814G>C	c.(814-816)Gac>Cac	p.D272H	KRT86_ENST00000544024.1_Missense_Mutation_p.D272H|KRT86_ENST00000423955.2_Missense_Mutation_p.D272H	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	272	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGAACATGGACTGCATCAT	0.592													45	72					0	0	0	0	C	52699102	G	C	52699102	3	2	388	1	0	0	0	0	1	0	0	0	8552	1174	41	2	832	2	KRT86	12	52699102	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	21912020	52699102	81152793	73	74638											
SMARCC2	6601	broad.mit.edu	37	chr12	56575309	56575309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcttctggggttggtgaagGagagggggagcgcttcctct	5	11	18	7	1	2	2	0	1	2	1	3	4	3	3	1	6	2	3	1	6	1	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:56575309G>C	ENST00000394023.3	-	10	1018	c.913C>G	c.(913-915)Cct>Gct	p.P305A	SMARCC2_ENST00000550164.1_Missense_Mutation_p.P305A|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P305A|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P305A|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	305					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTGGTGAAGGAGAGGGGGAG	0.507													27	53					0	0	0	0	C	56575309	G	C	56575309	3	2	388	1	0	0	0	0	1	0	0	0	14864	1174	41	2	2904	2	SMARCC2	12	56575309	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	3876207	56575309	77276586	74	74639											
LRIG3	121227	broad.mit.edu	37	chr12	59277366	59277366	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgattgcgttgtcacTcaggtctctgaaaaatcacc	12	11	8	10	1	4	3	3	2	1	1	5	3	4	3	1	1	1	1	1	1	2	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:59277366T>A	ENST00000320743.3	-	11	1538	c.1252A>T	c.(1252-1254)Agt>Tgt	p.S418C	LRIG3_ENST00000379141.4_Missense_Mutation_p.S358C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	418						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCGTTGTCACTCAGGTCTCTG	0.413			T	ROS1	NSCLC								19	38					0	0	0	0	A	59277366	T	A	59277366	3	1	388	1	0	0	0	0	1	0	0	0	9010	1551	54	5	2143	5	LRIG3	12	59277366	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	2702057	59277366	74574529	75	74640											
LIN7A	8825	broad.mit.edu	37	chr12	81331433	81331433	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccttacctctgtccagggtGagcggctggaccactgtcaa	7	9	11	14	1	2	1	1	1	1	0	3	2	3	2	4	3	2	1	4	3	2	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:81331433G>C	ENST00000552864.1	-	1	271	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	23					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGTCCAGGGTGAGCGGCTGGA	0.637													7	9					0	0	0	0	C	81331433	G	C	81331433	2	2	388	1	0	0	0	0	0	0	0	1	8865	1277	45	2		2	LIN7A	12	81331433	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	22054067	81331433	52520462	76	74641											
MED13L	23389	broad.mit.edu	37	chr12	116444184	116444184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcgtggaatgacctggtgtAgtgacatccttggtaccaaa	10	10	13	8	1	0	2	0	2	0	0	1	3	1	3	3	4	1	2	3	4	4	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:116444184A>G	ENST00000281928.3	-	12	2477	c.2271T>C	c.(2269-2271)acT>acC	p.T757T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	757					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACCTGGTGTAGTGACATCCT	0.418													23	46					0	0	0	0	G	116444184	A	G	116444184	2	3	388	1	0	0	0	0	0	0	0	1	9500	407	15	5		5	MED13L	12	116444184	Silent	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	35112751	116444184	17407711	77	74642											
TEP1	7011	broad.mit.edu	37	chr14	20852263	20852263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccttccgtggggcagcatCagccgttgcactgtgtcctg	5	10	13	13	2	1	0	1	0	0	0	3	0	3	0	4	2	4	4	4	2	0	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:20852263C>T	ENST00000262715.5	-	24	3508	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	TEP1_ENST00000556935.1_Silent_p.L1048L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1156					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGGCAGCATCAGCCGTTGCA	0.647													36	42					0	0	0	0	T	20852263	C	T	20852263	2	4	388	1	0	0	0	0	0	0	0	1	15853	813	29	2		2	TEP1	14	20852263	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08		20852263	86497277	78	74643											
SYNE2	23224	broad.mit.edu	37	chr14	64519707	64519707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattacaaacccaagtatttGaaaaagaaaaggaacttgaa	22	8	6	5	0	0	3	0	2	0	1	0	4	0	4	1	1	3	1	1	1	11	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:64519707G>C	ENST00000358025.3	+	48	9306	c.9076G>C	c.(9076-9078)Gaa>Caa	p.E3026Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.E3026Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3059Q|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3026			E -> D (in dbSNP:rs34843668).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAAGTATTTGAAAAAGAAAA	0.318													25	37					0	0	0	0	C	64519707	G	C	64519707	3	2	388	1	0	0	0	0	1	0	0	0	15537	1291	45	2	9262	2	SYNE2	14	64519707	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	43667444	64519707	42829833	79	74644											
SYNE2	23224	broad.mit.edu	37	chr14	64519931	64519931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaagtgtttatgtgatgaGataataaagaaattaaatga	18	12	9	2	0	0	4	0	3	0	2	0	5	0	4	1	0	0	1	1	0	8	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:64519931G>C	ENST00000358025.3	+	48	9530	c.9300G>C	c.(9298-9300)gaG>gaC	p.E3100D	SYNE2_ENST00000344113.4_Missense_Mutation_p.E3100D|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3133D|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3100					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATGTGATGAGATAATAAAGA	0.333													19	30					0	0	0	0	C	64519931	G	C	64519931	3	2	388	1	0	0	0	0	1	0	0	0	15537	933	33	2	9486	2	SYNE2	14	64519931	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	224	64519931	42829609	80	74645											
MGA	23269	broad.mit.edu	37	chr15	41961802	41961802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgaattctttgcagtaaCagcttatcagaacattcaga	14	12	7	8	0	3	3	2	1	1	2	3	4	3	3	0	0	4	3	0	0	4	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:41961802C>T	ENST00000219905.7	+	2	891	c.710C>T	c.(709-711)aCa>aTa	p.T237I	MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.T237I|MGA_ENST00000545763.1_Missense_Mutation_p.T237I|MGA_ENST00000389936.4_Missense_Mutation_p.T237I|MGA_ENST00000566586.1_Missense_Mutation_p.T237I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	237						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			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)		TTTGCAGTAACAGCTTATCAG	0.428													15	19					0	0	0	0	T	41961802	C	T	41961802	3	4	388	1	0	0	0	0	1	0	0	0	9609	478	17	4	712	4	MGA	15	41961802	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08		41961802	60569590	81	74646											
USP8	9101	broad.mit.edu	37	chr15	50733619	50733619	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgtgatgaggaaagggccTatgtactatatatgaaatac	15	11	10	5	1	0	3	0	3	0	0	1	4	0	4	1	2	2	1	1	2	8	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:50733619T>G	ENST00000433963.1	+	4	678	c.178T>G	c.(178-180)Tat>Gat	p.Y60D	USP8_ENST00000558892.1_3'UTR|USP8_ENST00000396444.3_Missense_Mutation_p.Y60D|USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Missense_Mutation_p.Y60D	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	60	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGAAAGGGCCTATGTACTATA	0.323													12	23					0	0	0	0	G	50733619	T	G	50733619	3	3	388	1	0	0	0	0	1	0	0	0	17185	1522	53	5	184	5	USP8	15	50733619	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	8771817	50733619	51797773	82	74647											
NR2F2	7026	broad.mit.edu	37	chr15	96875682	96875682	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgagctacacgtgccgCgccaaccggaactgtcccat	10	6	9	16	4	0	1	0	1	0	0	1	2	1	2	5	1	6	1	5	1	4	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:96875682C>A	ENST00000394166.3	+	1	1737	c.348C>A	c.(346-348)cgC>cgA	p.R116R	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	116					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			ACACGTGCCGCGCCAACCGGA	0.602													18	23					1.33834e-09	1.46093e-09	1	0	A	96875682	C	A	96875682	2	1	388	1	0	0	0	0	0	0	0	1	10699	755	27	3		3	NR2F2	15	96875682	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	46142063	96875682	5655710	83	74648											
SPNS1	83985	broad.mit.edu	37	chr16	28992919	28992919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcgtggtgggcagatctGagggctctggcaagaaagtg	9	8	16	8	1	2	3	0	1	2	2	3	3	2	3	1	4	0	3	1	4	2	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:28992919G>A	ENST00000311008.11	+	6	1169	c.792G>A	c.(790-792)ctG>ctA	p.L264L	SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Silent_p.L191L|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Silent_p.L242L|SPNS1_ENST00000334536.8_Silent_p.L264L|SPNS1_ENST00000565975.1_Silent_p.L309L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	264					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGGCAGATCTGAGGGCTCTGG	0.592											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	54					0	0	0	0	A	28992919	G	A	28992919	2	1	388	1	0	0	0	0	0	0	0	1	15164	1277	45	2		2	SPNS1	16	28992919	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		28992919	61361834	84	74649											
RNF40	9810	broad.mit.edu	37	chr16	30780713	30780713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtccttggcctcaaGtcccaggtatggccgccgcc	6	7	13	15	2	1	0	1	0	0	0	3	1	3	0	6	4	1	2	6	4	2	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:30780713G>A	ENST00000324685.6	+	16	2889	c.2454G>A	c.(2452-2454)aaG>aaA	p.K818K	RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000402121.3_Silent_p.K510K|RNF40_ENST00000357890.5_Silent_p.K718K|RNF40_ENST00000563683.1_Silent_p.K778K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	818					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TTGGCCTCAAGTCCCAGGTAT	0.597													23	42					0	0	0	0	A	30780713	G	A	30780713	2	1	388	1	0	0	0	0	0	0	0	1	13578	1020	36	4		4	RNF40	16	30780713	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	1787794	30780713	59574040	85	74650											
NUP93	9688	broad.mit.edu	37	chr16	56878497	56878497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaccaatgcgaggctggtGcagatggaggtcctcatgaa	11	7	14	9	1	1	2	1	1	0	1	2	5	2	3	2	4	2	2	2	4	2	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:56878497G>A	ENST00000569842.1	+	23	2650	c.2554G>A	c.(2554-2556)Gca>Aca	p.A852T	NUP93_ENST00000564887.1_Silent_p.V689V|NUP93_ENST00000308159.5_Silent_p.V812V|NUP93_ENST00000542526.1_Silent_p.V689V			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGAGGCTGGTGCAGATGGAGG	0.547													22	42					0	0	0	0	A	56878497	G	A	56878497	3	1	388	1	0	0	0	0	1	0	0	0	10843	1306	46	4	2518	4	NUP93	16	56878497	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	26097784	56878497	33476256	86	74651											
GLG1	2734	broad.mit.edu	37	chr16	74499652	74499652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtctcctgcagcttaaaTactttttggtggcagcgggt	6	15	11	9	1	2	0	0	0	2	0	3	0	2	0	1	3	4	3	1	3	3	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:74499652T>C	ENST00000422840.2	-	19	2588	c.2589A>G	c.(2587-2589)gtA>gtG	p.V863V	GLG1_ENST00000447066.2_Silent_p.V852V|GLG1_ENST00000205061.5_Silent_p.V863V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	863						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCAGCTTAAATACTTTTTGGT	0.458													65	194					0	0	0	0	C	74499652	T	C	74499652	2	2	388	1	0	0	0	0	0	0	0	1	6487	1393	49	5		5	GLG1	16	74499652	Silent	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	17621155	74499652	15855101	87	74652											
ABR	29	broad.mit.edu	37	chr17	1028566	1028566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagacgccatcccccccGccctggctgcgggcgctgag	4	4	16	17	4	0	2	0	1	0	1	1	3	1	2	5	4	1	2	5	4	0	0	rs143549153	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:1028566G>A	ENST00000544583.2	-	2	659	c.60C>T	c.(58-60)ggC>ggT	p.G20G	ABR_ENST00000574437.1_Silent_p.G20G|ABR_ENST00000302538.5_Silent_p.G66G	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	66					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CATCCCCCCCGCCCTGGCTGC	0.672													44	49					0	0	0	0	A	1028566	G	A	1028566	2	1	388	1	0	0	0	0	0	0	0	1	99	1074	38	1		1	ABR	17	1028566	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		1028566	80166644	88	74653											
TP53	7157	broad.mit.edu	37	chr17	7578398	7578398	+	Frame_Shift_Del	DEL	G	G	-																															atctgagcagcgctcatggtGggggcagcgcctcacaacct																								rs68130327		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:7578398delG	ENST00000420246.2	-	5	664	c.532delC	c.(532-534)acfs	p.H179fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H179fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Del_p.H179fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H179fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178fs*3(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(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)		CGCTCATGGTGGGGGCAGCGC	0.642		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)			23	22	---	---	---	---					-	7578398	G	-	7578398	7	5	388	1	0	1	0	1	0	0	0	0	16476	1348	47	0	766	0	TP53	17	7578398	Frame_Shift_Del	DEL	G	TCGA-DQ-7588-01A-11D-2078-08	6549832	7578398	73616812	89	74654											
MYH1	4619	broad.mit.edu	37	chr17	10401226	10401226	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgcagacgctgagccAgcttcttcctatgaaatatg	10	11	8	12	1	1	3	0	2	1	1	3	3	3	3	3	0	3	3	3	0	3	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:10401226A>T	ENST00000226207.5	-	31	4284	c.4190T>A	c.(4189-4191)cTg>cAg	p.L1397Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1397						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACGCTGAGCCAGCTTCTTCCT	0.453													5	30					0	0	0	0	T	10401226	A	T	10401226	3	4	388	1	0	0	0	0	1	0	0	0	10099	188	7	5	1669	5	MYH1	17	10401226	Missense_Mutation	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	2822828	10401226	70793984	90	74655											
AKAP10	11216	broad.mit.edu	37	chr17	19843030	19843030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcaatataactcacttgtCatataaaatcatggcatcat	16	14	3	8	0	5	0	5	0	0	0	5	0	5	0	0	1	1	1	0	1	7	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:19843030C>T	ENST00000225737.6	-	8	1475	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D440N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	440	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ACTCACTTGTCATATAAAATC	0.373													15	39					0	0	0	0	T	19843030	C	T	19843030	3	4	388	1	0	0	0	0	1	0	0	0	446	826	29	2	702	2	AKAP10	17	19843030	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	9441804	19843030	61352180	91	74656											
CACNG1	786	broad.mit.edu	37	chr17	65050172	65050172	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcggagatcttcgaatTcaccactcagaagggtgagc	11	8	12	10	2	3	3	2	1	1	2	5	6	3	3	1	2	2	1	1	2	2	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:65050172T>A	ENST00000226021.3	+	2	361	c.290T>A	c.(289-291)tTc>tAc	p.F97Y		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	97					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	ATCTTCGAATTCACCACTCAG	0.537													29	40					0	0	0	0	A	65050172	T	A	65050172	3	1	388	1	0	0	0	0	1	0	0	0	2581	1783	62	5	296	5	CACNG1	17	65050172	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	45207142	65050172	16145038	92	74657											
ABCA9	10350	broad.mit.edu	37	chr17	67045471	67045471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcattatctcttgggtaGttttggattcaggtgcaaat	8	18	10	5	0	3	0	2	0	1	0	4	1	3	1	0	3	1	4	0	3	3	7			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:67045471G>C	ENST00000340001.4	-	3	468	c.257C>G	c.(256-258)aCt>aGt	p.T86S	ABCA9_ENST00000495634.1_Missense_Mutation_p.T86S|ABCA9_ENST00000453985.2_Missense_Mutation_p.T86S|ABCA9_ENST00000370732.2_Missense_Mutation_p.T86S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	86					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTCTTGGGTAGTTTTGGATTC	0.368													31	50					0	0	0	0	C	67045471	G	C	67045471	3	2	388	1	0	0	0	0	1	0	0	0	39	1029	36	4	4765	4	ABCA9	17	67045471	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	1995299	67045471	14149739	93	74658											
TTYH2	94015	broad.mit.edu	37	chr17	72209806	72209806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcacgtcggcctgcgccTgcagcccgtgaacagcacct	6	5	11	19	5	0	1	0	1	0	0	1	1	0	1	5	1	5	3	5	1	1	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:72209806T>C	ENST00000269346.4	+	1	154	c.80T>C	c.(79-81)cTg>cCg	p.L27P		NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	27						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGCCTGCGCCTGCAGCCCGTG	0.701													16	16					0	0	0	0	C	72209806	T	C	72209806	3	2	388	1	0	0	0	0	1	0	0	0	16836	1580	55	5	82	5	TTYH2	17	72209806	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	5164335	72209806	8985404	94	74659											
QRICH2	84074	broad.mit.edu	37	chr17	74273270	74273270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaatctggatctcttcagTaggatacaggccccggggaa	10	8	13	10	1	3	0	1	0	2	0	4	3	3	3	2	6	1	2	2	6	4	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:74273270T>C	ENST00000262765.5	-	16	4920	c.4741A>G	c.(4741-4743)Act>Gct	p.T1581A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1581							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ATCTCTTCAGTAGGATACAGG	0.637													27	50					0	0	0	0	C	74273270	T	C	74273270	3	2	388	1	0	0	0	0	1	0	0	0	12962	1638	57	5	266	5	QRICH2	17	74273270	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	2063464	74273270	6921940	95	74660											
TNRC6C	57690	broad.mit.edu	37	chr17	76094475	76094475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggccctacctcccacaCgcaagcctctctgtctcatg	6	10	6	19	1	3	0	1	0	3	0	6	0	4	0	4	1	2	1	4	1	2	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:76094475C>A	ENST00000335749.4	+	18	5035	c.4466C>A	c.(4465-4467)aCg>aAg	p.T1489K	TNRC6C_ENST00000544502.1_Missense_Mutation_p.T1489K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T1453K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T1489K|TNRC6C_ENST00000588061.1_Missense_Mutation_p.T1453K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T1453K	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1453	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACCTCCCACACGCAAGCCTCT	0.527													11	21					4.68919e-08	5.04176e-08	1	0	A	76094475	C	A	76094475	3	1	388	1	0	0	0	0	1	0	0	0	16436	536	19	3	4537	3	TNRC6C	17	76094475	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	1821205	76094475	5100735	96	74661											
STARD6	147323	broad.mit.edu	37	chr18	51851189	51851189	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaattattgatggggacAattttcctctcatttctgtc	8	19	6	8	0	3	1	2	1	2	0	6	2	4	2	1	2	0	0	1	2	3	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr18:51851189A>T	ENST00000581310.1	-	9	909	c.536T>A	c.(535-537)tTg>tAg	p.L179*	STARD6_ENST00000307844.3_Nonsense_Mutation_p.L179*|STARD6_ENST00000580990.2_Nonsense_Mutation_p.L55*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	179	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGATGGGGACAATTTTCCTCT	0.348													19	32					0	0	0	0	T	51851189	A	T	51851189	4	4	388	1	0	0	0	0	0	1	0	0	15351	131	5	5	129	5	STARD6	18	51851189	Nonsense_Mutation	SNP	A	TCGA-DQ-7588-01A-11D-2078-08		51851189	26226059	97	74662											
DNMT1	1786	broad.mit.edu	37	chr19	10249209	10249209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtggctccgggaacagagGgagcttctctccaggggccg	7	6	16	12	2	1	1	0	0	1	1	4	3	3	3	3	5	2	2	3	5	1	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:10249209G>A	ENST00000340748.4	-	34	4208	c.3973C>T	c.(3973-3975)Cct>Tct	p.P1325S	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1341S|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1325S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1325	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGAACAGAGGGAGCTTCTCT	0.637													10	39					0	0	0	0	A	10249209	G	A	10249209	3	1	388	1	0	0	0	0	1	0	0	0	4711	1232	43	4	905	4	DNMT1	19	10249209	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		10249209	48879774	98	74663											
KEAP1	9817	broad.mit.edu	37	chr19	10600446	10600446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacggcataaaggagaCgattgaggacagccacgccc	12	3	11	15	3	0	2	0	1	0	1	0	5	0	3	4	3	1	1	4	3	2	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:10600446C>T	ENST00000171111.5	-	4	1956	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470H	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATAAAGGAGACGATTGAGGAC	0.562													15	20					0	0	0	0	T	10600446	C	T	10600446	3	4	388	1	0	0	0	0	1	0	0	0	8193	536	19	1	477	1	KEAP1	19	10600446	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	351237	10600446	48528537	99	74664											
LPPR2	64748	broad.mit.edu	37	chr19	11470232	11470232	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgggcattgtgatcCtgcttgcttaccgcctggag	4	13	13	11	1	0	1	0	1	0	0	1	2	1	2	3	2	5	5	3	2	1	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:11470232C>T	ENST00000251473.5	+	4	467	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DKFZP761J1410_ENST00000591608.1_Intron|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CATTGTGATCCTGCTTGCTTA	0.612													14	20					0	0	0	0	T	11470232	C	T	11470232	2	4	388	1	0	0	0	0	0	0	0	1	8989	680	24	4		4	LPPR2	19	11470232	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	869786	11470232	47658751	100	74665											
ZNF101	94039	broad.mit.edu	37	chr19	19790752	19790752	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcaaaaatgtgccaaagtCtttagatgtcccacgtccct	11	12	7	11	1	2	1	1	0	1	1	4	1	4	1	3	0	1	0	3	0	4	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:19790752C>G	ENST00000592502.1	+	4	1064	c.954C>G	c.(952-954)gtC>gtG	p.V318V	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.V198V			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GTGCCAAAGTCTTTAGATGTC	0.398													23	21					0	0	0	0	G	19790752	C	G	19790752	2	3	388	1	0	0	0	0	0	0	0	1	17809	900	32	2		2	ZNF101	19	19790752	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	8320520	19790752	39338231	101	74666											
ZNF708	7562	broad.mit.edu	37	chr19	21477105	21477105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcacatttgtagggtttCtctccagtatgaattatctt	8	19	6	8	0	4	1	1	1	3	0	6	1	5	1	1	1	0	3	1	1	4	7			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:21477105C>T	ENST00000356929.3	-	4	860	c.663G>A	c.(661-663)gaG>gaA	p.E221E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGTAGGGTTTCTCTCCAGTAT	0.343													5	26					0	0	0	0	T	21477105	C	T	21477105	2	4	388	1	0	0	0	0	0	0	0	1	18207	912	32	2		2	ZNF708	19	21477105	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	1686353	21477105	37651878	102	74667											
ZNF99	7652	broad.mit.edu	37	chr19	22941528	22941528	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcacatttgtagggttTctgtccagtatgaattatct	8	19	7	7	0	4	1	1	1	3	0	5	1	5	1	1	1	0	3	1	1	4	7			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:22941528T>G	ENST00000397104.3	-	5	909	c.910A>C	c.(910-912)Aaa>Caa	p.K304Q	ZNF99_ENST00000596209.1_Missense_Mutation_p.K395Q					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGTAGGGTTTCTGTCCAGTA	0.363													8	45					0	0	0	0	G	22941528	T	G	22941528	3	3	388	1	0	0	0	0	1	0	0	0	18297	1792	62	5	2214	5	ZNF99	19	22941528	Missense_Mutation	SNP	T	TCGA-DQ-7588-01A-11D-2078-08	1464423	22941528	36187455	103	74668											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590721	38590721	+	Frame_Shift_Del	DEL	C	C	-																															gtcatccccgagctcaacatCcactgcctgcggctggccct																										TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:38590721delC	ENST00000222345.6	+	5	2294	c.1785delC	c.(1783-1785)atfs	p.I595fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	595					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCTCAACATCCACTGCCTGC	0.642													36	35	---	---	---	---					-	38590721	C	-	38590721	7	5	388	1	0	1	0	1	0	0	0	0	14419	845	30	0	1795	0	SIPA1L3	19	38590721	Frame_Shift_Del	DEL	C	TCGA-DQ-7588-01A-11D-2078-08	15649193	38590721	20538262	104	74669											
PPP1R15A	23645	broad.mit.edu	37	chr19	49379062	49379062	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagagcctgggcacgcctCaggaacccacctttagcccc	8	5	10	18	1	1	1	1	0	0	1	1	2	1	2	7	2	3	1	7	2	2	2			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:49379062C>G	ENST00000200453.5	+	3	2126	c.1857C>G	c.(1855-1857)ctC>ctG	p.L619L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	619					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGGCACGCCTCAGGAACCCAC	0.687													107	132					0	0	0	0	G	49379062	C	G	49379062	2	3	388	1	0	0	0	0	0	0	0	1	12439	813	29	2		2	PPP1R15A	19	49379062	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	10788341	49379062	9749921	105	74670											
ZNF347	84671	broad.mit.edu	37	chr19	53644812	53644812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaggtttctctccagtGtgaattctccagtgatttgt	7	18	9	7	0	2	2	0	2	2	0	5	2	3	2	2	1	0	2	2	1	2	5			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:53644812G>A	ENST00000452676.2	-	5	1698	c.1272C>T	c.(1270-1272)caC>caT	p.H424H	ZNF347_ENST00000334197.7_Silent_p.H423H|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.H424H	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCTCCAGTGTGAATTCTCC	0.428													46	57					0	0	0	0	A	53644812	G	A	53644812	2	1	388	1	0	0	0	0	0	0	0	1	17956	1368	48	4		4	ZNF347	19	53644812	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	4265750	53644812	5484171	106	74671											
LILRB2	10288	broad.mit.edu	37	chr19	54782844	54782844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcgaaggtcacgttcccCctccttgtacagaacaaatc	10	9	8	14	2	1	1	1	0	0	1	4	2	3	1	3	2	2	2	3	2	4	3			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:54782844C>A	ENST00000391748.1	-	6	905	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	LILRB2_ENST00000314446.5_Missense_Mutation_p.G260W|LILRB2_ENST00000391749.4_Missense_Mutation_p.G260W|LILRB2_ENST00000434421.1_Missense_Mutation_p.G144W|LILRB2_ENST00000391746.1_Missense_Mutation_p.G260W	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	260	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACGTTCCCCCTCCTTGTAC	0.647													7	33					0.00448238	0.00457843	1	0	A	54782844	C	A	54782844	3	1	388	1	0	0	0	0	1	0	0	0	8845	623	22	4	1054	4	LILRB2	19	54782844	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	1138032	54782844	4346139	107	74672											
LILRA3	11026	broad.mit.edu	37	chr19	54802685	54802685	+	Silent	SNP	G	G	A																															ttgtacagaacaaatctgtcGtagccggcatcagagccaca																										TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:54802685G>A	ENST00000391745.1	-	9	1123	c.807C>T	c.(805-807)taC>taT	p.Y269Y	LILRA3_ENST00000391744.3_Silent_p.Y188Y|LILRA3_ENST00000251390.3_Silent_p.Y252Y					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTGTCGTAGCCGGCAT	0.627													5	49					0	0	0	0	A	54802685	G	A	54802685	2	1	388	1	0	0	0	0	0	0	0	1	8840	1140	40	1		1	LILRA3	19	54802685	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	19841	54802685	4326298	108	74673	1005	2									
LILRA3	11026	broad.mit.edu	37	chr19	54802692	54802692	+	Missense_Mutation	SNP	G	G	A																															gaacaaatctgtcgtagccgGcatcagagccacactggaag																										TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:54802692G>A	ENST00000391745.1	-	9	1116	c.800C>T	c.(799-801)gCc>gTc	p.A267V	LILRA3_ENST00000391744.3_Missense_Mutation_p.A186V|LILRA3_ENST00000251390.3_Missense_Mutation_p.A250V					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCGTAGCCGGCATCAGAGCC	0.612													4	51					0	0	0	0	A	54802692	G	A	54802692	3	1	388	1	0	0	0	0	1	0	0	0	8840	1203	42	4	582	4	LILRA3	19	54802692	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	7	54802692	4326291	109	74674	1005	2									
ADAM33	80332	broad.mit.edu	37	chr20	3654911	3654911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttccaggtacttccgggtCctgcgcgcttctcgcctgcc	3	11	11	16	4	1	0	0	0	1	0	5	0	4	0	5	2	3	3	5	2	1	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:3654911C>A	ENST00000356518.2	-	7	862	c.621G>T	c.(619-621)agG>agT	p.R207S	ADAM33_ENST00000379861.4_Missense_Mutation_p.R207S|ADAM33_ENST00000350009.2_Missense_Mutation_p.R207S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	207					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACTTCCGGGTCCTGCGCGCTT	0.642													17	49					2.23348e-06	2.34844e-06	1	0	A	3654911	C	A	3654911	3	1	388	1	0	0	0	0	1	0	0	0	250	854	30	2	1884	2	ADAM33	20	3654911	Missense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08		3654911	59370609	110	74675											
DEFB115	245929	broad.mit.edu	37	chr20	29847327	29847327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatcatgcaaagaaattgaGaggaagaaagaaaaatgtgg	22	6	11	2	0	1	4	1	1	0	4	1	6	1	5	0	2	1	1	0	2	7	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:29847327G>C	ENST00000400552.1	+	2	159	c.159G>C	c.(157-159)gaG>gaC	p.E53D		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	53					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAGAAATTGAGAGGAAGAAAG	0.353													19	26					0	0	0	0	C	29847327	G	C	29847327	3	2	388	1	0	0	0	0	1	0	0	0	4440	933	33	2	165	2	DEFB115	20	29847327	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	26192416	29847327	33178193	111	74676											
PLCG1	5335	broad.mit.edu	37	chr20	39797452	39797452	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaaggcccagagggaggacGagctgaccttcatcaagagc	13	4	13	11	1	2	3	2	1	0	2	2	6	2	5	2	3	2	1	2	3	2	1			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:39797452G>C	ENST00000373272.2	+	21	2830	c.2425G>C	c.(2425-2427)Gag>Cag	p.E809Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.E809Q|PLCG1_ENST00000373271.1_Missense_Mutation_p.E809Q	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	809	SH3.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGGGAGGACGAGCTGACCTT	0.577													6	17					0	0	0	0	C	39797452	G	C	39797452	3	2	388	1	0	0	0	0	1	0	0	0	12107	1059	37	3	2507	3	PLCG1	20	39797452	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	9950125	39797452	23228068	112	74677											
APP	351	broad.mit.edu	37	chr21	27348289	27348289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggataactgccttcttatcaGctttaggcaagttctttgct	8	16	8	9	0	3	0	1	0	2	0	3	1	3	1	1	2	4	4	1	2	4	7			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr21:27348289G>A	ENST00000358918.3	-	10	1476	c.1277C>T	c.(1276-1278)gCt>gTt	p.A426V	APP_ENST00000440126.3_Missense_Mutation_p.A402V|APP_ENST00000359726.3_Missense_Mutation_p.A370V|APP_ENST00000357903.3_Missense_Mutation_p.A407V|APP_ENST00000354192.3_Missense_Mutation_p.A295V|APP_ENST00000348990.5_Missense_Mutation_p.A351V|APP_ENST00000448388.2_Missense_Mutation_p.A316V|APP_ENST00000346798.3_Missense_Mutation_p.A426V|APP_ENST00000439274.2_Missense_Mutation_p.A370V	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	426					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTTCTTATCAGCTTTAGGCAA	0.378													12	34					0	0	0	0	A	27348289	G	A	27348289	3	1	388	1	0	0	0	0	1	0	0	0	817	971	34	4	1071	4	APP	21	27348289	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		27348289	20781606	113	74678											
GART	2618	broad.mit.edu	37	chr21	34889435	34889435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtagattctggtaggcgtGagaagtaagtcccctgcatg	9	11	13	8	1	1	2	0	1	1	2	2	3	2	2	2	2	1	4	2	2	4	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr21:34889435G>A	ENST00000381831.3	-	16	2231	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	GART_ENST00000543717.1_Silent_p.L208L|GART_ENST00000381815.4_Silent_p.L656L|GART_ENST00000381839.3_Silent_p.L656L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	656	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGTAGGCGTGAGAAGTAAGT	0.423													70	34					0	0	0	0	A	34889435	G	A	34889435	2	1	388	1	0	0	0	0	0	0	0	1	6292	1277	45	2		2	GART	21	34889435	Silent	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	7541146	34889435	13240460	114	74679											
CECR2	27443	broad.mit.edu	37	chr22	18022014	18022014	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcatgtatgctccagctCagttccagccaggattcatt	10	11	9	11	0	2	0	2	0	0	0	4	2	4	1	3	1	4	5	3	1	2	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:18022014C>T	ENST00000262608.8	+	15	2119	c.2119C>T	c.(2119-2121)Cag>Tag	p.Q707*	CECR2_ENST00000400573.4_Nonsense_Mutation_p.Q706*|CECR2_ENST00000400585.2_Nonsense_Mutation_p.Q565*	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	748					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGCTCCAGCTCAGTTCCAGCC	0.572													6	12					0	0	0	0	T	18022014	C	T	18022014	4	4	388	1	0	0	0	0	0	1	0	0	3235	827	29	2	2176	2	CECR2	22	18022014	Nonsense_Mutation	SNP	C	TCGA-DQ-7588-01A-11D-2078-08		18022014	33282552	115	74680											
EMID1	129080	broad.mit.edu	37	chr22	29627089	29627089	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgccccgctctggggtccCcctcctgcccagggcagccc	2	6	11	22	1	1	0	0	0	1	0	3	0	3	0	8	3	3	2	8	3	0	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:29627089C>A	ENST00000334018.6	+	6	734	c.546C>A	c.(544-546)ccC>ccA	p.P182P	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Silent_p.P182P|EMID1_ENST00000404755.3_Silent_p.P182P	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	180	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCTGGGGTCCCCCTCCTGCCC	0.622													29	48					1.75199e-13	1.92718e-13	1	0	A	29627089	C	A	29627089	2	1	388	1	0	0	0	0	0	0	0	1	5129	610	22	4		4	EMID1	22	29627089	Silent	SNP	C	TCGA-DQ-7588-01A-11D-2078-08	11605075	29627089	21677477	116	74681											
FBXO7	25793	broad.mit.edu	37	chr22	32889111	32889111	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactgaacctaccagatgtAtttgggttggtcgtcctccc	7	12	10	12	1	0	2	0	1	0	1	3	2	2	2	4	2	2	3	4	2	3	4			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:32889111A>G	ENST00000266087.7	+	7	1314	c.987A>G	c.(985-987)gtA>gtG	p.V329V	FBXO7_ENST00000382058.3_Silent_p.V250V|FBXO7_ENST00000397426.1_Silent_p.V215V	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	329	F-box.				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACCAGATGTATTTGGGTTGG	0.438													42	91					0	0	0	0	G	32889111	A	G	32889111	2	3	388	1	0	0	0	0	0	0	0	1	5805	436	16	5		5	FBXO7	22	32889111	Silent	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	3262022	32889111	18415455	117	74682											
PLCXD1	55344	broad.mit.edu	37	chrX	208211	208211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctggagcggcatccacgcGaggtggtcatcctggcctgc	5	7	16	13	3	1	0	1	0	0	0	3	2	3	1	3	6	2	2	3	6	0	0			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:208211G>A	ENST00000381657.2	+	5	953	c.439G>A	c.(439-441)Gag>Aag	p.E147K	PLCXD1_ENST00000381663.3_Missense_Mutation_p.E147K|PLCXD1_ENST00000399012.1_Missense_Mutation_p.E147K	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	147	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCATCCACGCGAGGTGGTCAT	0.617													16	46					0	0	0	0	A	208211	G	A	208211	3	1	388	1	0	0	0	0	1	0	0	0	12113	1059	37	1	453	1	PLCXD1	23	208211	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08		208211	155062349	118	74683											
GUCY2F	2986	broad.mit.edu	37	chrX	108641866	108641866	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctatagacatctcctgcAaaagaacctaacctgctgcc	14	8	6	13	0	1	2	0	0	1	2	2	2	1	2	4	0	6	3	4	0	7	3	rs113612238		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:108641866A>C	ENST00000218006.2	-	11	2478	c.2187T>G	c.(2185-2187)ttT>ttG	p.F729L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	729	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CATCTCCTGCAAAAGAACCTA	0.502													25	11					0	0	0	0	C	108641866	A	C	108641866	3	2	388	1	0	0	0	0	1	0	0	0	6948	127	5	5	1175	5	GUCY2F	23	108641866	Missense_Mutation	SNP	A	TCGA-DQ-7588-01A-11D-2078-08	108433655	108641866	46628694	119	74684											
FMR1	2332	broad.mit.edu	37	chrX	147014272	147014272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtaatacaagttccaagGaacttagtaggtaagtcaga	16	10	10	5	0	1	1	1	0	0	1	2	3	2	2	1	2	2	4	1	2	8	6			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:147014272G>T	ENST00000218200.8	+	9	1099	c.870G>T	c.(868-870)agG>agT	p.R290S	FMR1_ENST00000439526.2_Missense_Mutation_p.R290S|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370475.4_Missense_Mutation_p.R290S|FMR1_ENST00000370470.1_Missense_Mutation_p.R290S|FMR1_ENST00000370471.3_Missense_Mutation_p.R290S|FMR1_ENST00000370477.1_Missense_Mutation_p.R290S|FMR1_ENST00000334557.6_Missense_Mutation_p.R290S	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	290	KH 2.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTCCAAGGAACTTAGTAG	0.318									Fragile X syndrome				6	38					0.00116845	0.00120207	1	0	T	147014272	G	T	147014272	3	4	388	1	0	0	0	0	1	0	0	0	6005	1165	41	2	904	2	FMR1	23	147014272	Missense_Mutation	SNP	G	TCGA-DQ-7588-01A-11D-2078-08	38372406	147014272	8256288	120	74685											
FAM132A	388581	broad.mit.edu	37	chr1	1181945	1181945	+	Frame_Shift_Del	DEL	G	G	-																															gacgcgctggcggtggcgttGgggggatctgcgcgctggcc																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:1181945delG	ENST00000330388.2	-	1	157	c.126delC	c.(124-126)ccfs	p.P42fs		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	42						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGTGGCGTTGGGGGGATCTG	0.776													2	4	---	---	---	---					-	1181945	G	-	1181945	7	5	389	1	0	1	0	1	0	0	0	0	5483	1335	47	0	814	0	FAM132A	1	1181945	Frame_Shift_Del	DEL	G	TCGA-DQ-7589-01A-11D-2229-08		1181945	248068676	1	74686											
ARHGEF16	27237	broad.mit.edu	37	chr1	3386147	3386147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctggatgtcctgggtGccagtcagaggtgaggccac	8	8	14	11	0	1	2	1	1	0	1	3	3	3	3	4	4	1	0	4	4	0	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:3386147G>A	ENST00000378378.4	+	6	1417	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A50T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A50T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	338	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGTCCTGGGTGCCAGTCAGAG	0.647													4	33					0	0	0	0	A	3386147	G	A	3386147	3	1	389	1	0	0	0	0	1	0	0	0	901	1319	46	4	1030	4	ARHGEF16	1	3386147	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2204202	3386147	245864474	2	74687											
PTCHD2	57540	broad.mit.edu	37	chr1	11561740	11561740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggctgagcaagaatgggCggtaccagcccagcatcccg	10	4	14	13	3	0	2	0	1	0	1	1	2	1	2	3	3	5	4	3	3	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:11561740C>T	ENST00000294484.6	+	2	829	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R231W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	231					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAAGAATGGGCGGTACCAGCC	0.692													4	5					0	0	0	0	T	11561740	C	T	11561740	3	4	389	1	0	0	0	0	1	0	0	0	12812	759	27	1	693	1	PTCHD2	1	11561740	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8175593	11561740	237688881	3	74688											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920008	12920008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcattacacgtcagataatGaactcgagggatggttagtc	13	11	10	7	2	2	2	2	1	0	1	4	4	2	3	0	2	2	1	0	2	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:12920008G>C	ENST00000240189.2	+	3	835	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	250										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGATAATGAACTCGAGGG	0.438													10	81					0	0	0	0	C	12920008	G	C	12920008	3	2	389	1	0	0	0	0	1	0	0	0	12512	1291	45	2	754	2	PRAMEF2	1	12920008	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1358268	12920008	236330613	4	74689											
NECAP2	55707	broad.mit.edu	37	chr1	16774625	16774625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttcaatgttgcattgcaGgaccatttcaagtgagtggg	10	12	12	7	0	2	1	2	1	0	0	2	3	2	2	1	2	2	3	1	2	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:16774625G>A	ENST00000337132.5	+	4	459	c.369G>A	c.(367-369)caG>caA	p.Q123Q	NECAP2_ENST00000443980.2_Silent_p.Q123Q|NECAP2_ENST00000457722.2_Silent_p.Q97Q|NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000406746.1_Silent_p.Q123Q	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	123					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCATTGCAGGACCATTTCA	0.522													32	91					0	0	0	0	A	16774625	G	A	16774625	2	1	389	1	0	0	0	0	0	0	0	1	10378	991	35	4		4	NECAP2	1	16774625	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	3854617	16774625	232475996	5	74690											
EPHA8	2046	broad.mit.edu	37	chr1	22921775	22921775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgcctgacgctcatcacGggcctggtggtgcttctgct	4	12	12	13	2	4	1	2	1	2	0	4	1	4	1	2	3	3	3	2	3	0	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:22921775G>A	ENST00000166244.3	+	8	1728	c.1656G>A	c.(1654-1656)acG>acA	p.T552T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	552						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCTCATCACGGGCCTGGTGG	0.642													5	15					0	0	0	0	A	22921775	G	A	22921775	2	1	389	1	0	0	0	0	0	0	0	1	5211	1103	39	1		1	EPHA8	1	22921775	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	6147150	22921775	226328846	6	74691											
MYOM3	127294	broad.mit.edu	37	chr1	24384112	24384112	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgatgcaagtcaagcaCagggtctgtttgaaaagaca	15	7	12	7	1	2	3	1	1	1	2	2	5	2	3	0	1	2	3	0	1	4	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:24384112C>T	ENST00000330966.7	-	37	4227	c.4065G>A	c.(4063-4065)ctG>ctA	p.L1355L	MYOM3_ENST00000338909.5_Silent_p.L245L|MYOM3_ENST00000374434.3_Silent_p.L1352L|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1352	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGTCAAGCACAGGGTCTGTT	0.512													3	22					0	0	0	0	T	24384112	C	T	24384112	2	4	389	1	0	0	0	0	0	0	0	1	10163	465	17	4		4	MYOM3	1	24384112	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1462337	24384112	224866509	7	74692											
PAQR7	164091	broad.mit.edu	37	chr1	26190068	26190068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacaaagagggccagcCgcagcagcagtaccagggcc	11	3	12	15	1	1	1	0	0	1	1	2	1	1	1	5	2	4	4	5	2	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:26190068C>A	ENST00000374296.3	-	2	929	c.263G>T	c.(262-264)cGg>cTg	p.R88L		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	88					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGCCAGCCGCAGCAGCAG	0.602													25	46					1.64293e-13	2.15024e-13	1	0	A	26190068	C	A	26190068	3	1	389	1	0	0	0	0	1	0	0	0	11511	652	23	3	781	3	PAQR7	1	26190068	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1805956	26190068	223060553	8	74693											
CNKSR1	10256	broad.mit.edu	37	chr1	26515373	26515373	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtggcggagctctttcAtgcggcgcaaccgagaccct	9	7	12	13	4	2	1	1	0	1	1	2	3	2	2	2	3	4	2	2	3	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:26515373A>C	ENST00000531191.1	+	19	2034	c.1027A>C	c.(1027-1029)Atg>Ctg	p.M343L	CNKSR1_ENST00000374253.5_Missense_Mutation_p.M608L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.M601L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	608	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTCTTTCATGCGGCGCAA	0.647													4	91					0	0	0	0	C	26515373	A	C	26515373	3	2	389	1	0	0	0	0	1	0	0	0	3636	217	8	5	1879	5	CNKSR1	1	26515373	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	325305	26515373	222735248	9	74694											
DHDDS	79947	broad.mit.edu	37	chr1	26795572	26795572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaggcttcctgcaggccttgGaactcaagcgagctgactgg	9	8	13	11	1	1	1	1	1	0	0	2	3	2	2	2	4	4	3	2	4	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:26795572G>C	ENST00000360009.2	+	9	1032	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	DHDDS_ENST00000236342.7_Missense_Mutation_p.E318Q|DHDDS_ENST00000526219.1_Missense_Mutation_p.E279Q|DHDDS_ENST00000525682.2_Missense_Mutation_p.E284Q	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	318							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCAGGCCTTGGAACTCAAGCG	0.652													14	39					0	0	0	0	C	26795572	G	C	26795572	3	2	389	1	0	0	0	0	1	0	0	0	4515	1175	41	2	985	2	DHDDS	1	26795572	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	280199	26795572	222455049	10	74695											
KIAA0319L	79932	broad.mit.edu	37	chr1	35900606	35900606	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcggtctggccatgtaaaGatggcatcatcgctgtccag	8	11	11	11	2	3	1	1	0	2	1	6	1	4	1	2	3	0	3	2	3	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:35900606G>C	ENST00000325722.3	-	21	3273	c.3039C>G	c.(3037-3039)atC>atG	p.I1013M	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I450M	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1013						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCATGTAAAGATGGCATCAT	0.562													4	38					0	0	0	0	C	35900606	G	C	35900606	3	2	389	1	0	0	0	0	1	0	0	0	8220	932	33	2	114	2	KIAA0319L	1	35900606	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	9105034	35900606	213350015	11	74696											
NRD1	4898	broad.mit.edu	37	chr1	52255038	52255038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagctgcatcacttcacaaGaagaatttgaatcctcacta	14	11	5	11	0	4	3	4	1	0	2	5	3	5	3	1	0	2	2	1	0	5	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:52255038G>A	ENST00000354831.7	-	33	3719	c.3530C>T	c.(3529-3531)tCt>tTt	p.S1177F	NRD1_ENST00000539524.1_Missense_Mutation_p.S1045F|NRD1_ENST00000352171.7_Missense_Mutation_p.S1109F|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1108					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CACTTCACAAGAAGAATTTGA	0.433													5	50					0	0	0	0	A	52255038	G	A	52255038	3	1	389	1	0	0	0	0	1	0	0	0	10716	942	33	2	133	2	NRD1	1	52255038	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	16354432	52255038	196995583	12	74697											
SERBP1	26135	broad.mit.edu	37	chr1	67895920	67895920	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggggtccgattcgtcgtCaaataactggtcgaatcggt	10	10	13	8	5	1	0	1	0	0	0	6	3	2	0	1	4	1	0	1	4	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:67895920C>G	ENST00000370994.4	-	1	178	c.64G>C	c.(64-66)Gac>Cac	p.D22H	SERBP1_ENST00000370995.2_Missense_Mutation_p.D22H|SERBP1_ENST00000370990.5_Missense_Mutation_p.D22H|SERBP1_ENST00000361219.6_Missense_Mutation_p.D22H	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	22					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GATTCGTCGTCAAATAACTGG	0.622													6	97					0	0	0	0	G	67895920	C	G	67895920	3	3	389	1	0	0	0	0	1	0	0	0	14162	826	29	2	1194	2	SERBP1	1	67895920	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	15640882	67895920	181354701	13	74698											
ASB17	127247	broad.mit.edu	37	chr1	76397744	76397744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacttacttcaaaacggtatCctgatttttccacaaatgca	14	13	4	10	1	1	1	1	1	0	0	3	1	3	1	2	1	4	2	2	1	6	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:76397744C>A	ENST00000284142.6	-	1	372	c.233G>T	c.(232-234)gGa>gTa	p.G78V		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	78					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AAAACGGTATCCTGATTTTTC	0.383													13	38					1.61879e-10	2.00504e-10	1	0	A	76397744	C	A	76397744	3	1	389	1	0	0	0	0	1	0	0	0	1025	855	30	2	666	2	ASB17	1	76397744	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8501824	76397744	172852877	14	74699											
CTBS	1486	broad.mit.edu	37	chr1	85036299	85036299	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctccttttgaatgagcGtagcacataagttctgagtc	9	13	10	9	1	1	3	0	3	1	0	3	3	2	3	1	1	2	4	1	1	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:85036299G>T	ENST00000370630.4	-	2	330	c.282C>A	c.(280-282)taC>taA	p.Y94*	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	94						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTGAATGAGCGTAGCACATAA	0.373													12	40					2.27111e-07	2.64963e-07	1	0	T	85036299	G	T	85036299	4	4	389	1	0	0	0	0	0	1	0	0	4031	1140	40	3	899	3	CTBS	1	85036299	Nonsense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	8638555	85036299	164214322	15	74700											
COL24A1	255631	broad.mit.edu	37	chr1	86252053	86252053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacctttgggccttgaattCctgggcttcctggcaagcct	5	13	11	12	0	0	1	0	1	0	0	2	1	2	1	5	3	2	3	5	3	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:86252053C>A	ENST00000370571.2	-	48	4409	c.4043G>T	c.(4042-4044)gGa>gTa	p.G1348V	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1348V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1348	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCCTTGAATTCCTGGGCTTCC	0.502													22	54					1.50039e-11	1.91486e-11	1	0	A	86252053	C	A	86252053	3	1	389	1	0	0	0	0	1	0	0	0	3713	855	30	2	1153	2	COL24A1	1	86252053	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1215754	86252053	162998568	16	74701											
OLFM3	118427	broad.mit.edu	37	chr1	102290583	102290583	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaattgtcatactcactTagctttttcatgcagtcacg	11	16	5	9	1	4	0	4	0	0	0	4	0	4	0	0	0	3	2	0	0	4	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:102290583T>A	ENST00000370103.4	-	4	804	c.592_splice	c.e4+1	p.L197_splice	OLFM3_ENST00000536598.1_Splice_Site_p.L122_splice|OLFM3_ENST00000359814.3_Splice_Site_p.L217_splice|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Splice_Site_p.L217_splice	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	217						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATACTCACTTAGCTTTTTCA	0.343													10	26					0	0	0	0	A	102290583	T	A	102290583	5	1	389	1	0	0	0	0	0	0	1	0	10925	1768	61	5	797	5	OLFM3	1	102290583	Splice_Site	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	16038530	102290583	146960038	17	74702											
SPAG17	200162	broad.mit.edu	37	chr1	118583388	118583388	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttttccacttcaatctgcCccccatcagaaggatacagg	10	11	6	14	0	4	1	2	0	2	1	5	2	5	2	4	2	2	0	4	2	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:118583388C>G	ENST00000336338.5	-	22	3196	c.3131G>C	c.(3130-3132)gGg>gCg	p.G1044A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1044						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCAATCTGCCCCCCATCAGA	0.363													4	46					0	0	0	0	G	118583388	C	G	118583388	3	3	389	1	0	0	0	0	1	0	0	0	15069	623	22	4	3648	4	SPAG17	1	118583388	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	16292805	118583388	130667233	18	74703											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859287	149859287	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagctccagaatttccgcGgtcaggtactcgaggaccgc	8	7	12	14	4	1	1	1	0	0	1	4	3	3	2	4	3	2	2	4	3	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:149859287G>T	ENST00000331128.3	-	1	179	c.180C>A	c.(178-180)acC>acA	p.T60T		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	60					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GAATTTCCGCGGTCAGGTACT	0.662													45	45					2.24893e-16	2.99426e-16	1	0	T	149859287	G	T	149859287	2	4	389	1	0	0	0	0	0	0	0	1	7227	1103	39	3		3	HIST2H2AB	1	149859287	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	31275899	149859287	99391334	19	74704											
MTMR11	10903	broad.mit.edu	37	chr1	149906927	149906927	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaaaaccaactctgagCagccggaagtctcggccatg	11	6	10	14	2	3	1	1	1	2	0	4	2	3	2	4	2	4	1	4	2	4	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:149906927C>A	ENST00000439741.2	-	5	670	c.420G>T	c.(418-420)ctG>ctT	p.L140L	MTMR11_ENST00000406732.3_Silent_p.L112L|MTMR11_ENST00000369140.3_Silent_p.L68L|MTMR11_ENST00000361405.6_Silent_p.L140L|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	140							phosphatase activity	p.L140L(1)|p.L68L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAACTCTGAGCAGCCGGAAGT	0.557													19	34					2.35188e-11	2.9933e-11	1	0	A	149906927	C	A	149906927	2	1	389	1	0	0	0	0	0	0	0	1	10010	697	25	4		4	MTMR11	1	149906927	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	47640	149906927	99343694	20	74705											
NPR1	4881	broad.mit.edu	37	chr1	153660623	153660623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttggggctgctcatgcaGcggtgctgggctgaggaccc	5	8	18	10	1	1	1	1	1	0	0	1	3	1	2	1	5	4	6	1	5	0	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:153660623G>A	ENST00000368680.3	+	15	2815	c.2343G>A	c.(2341-2343)caG>caA	p.Q781Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	781	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGCTCATGCAGCGGTGCTGGG	0.622													53	62					0	0	0	0	A	153660623	G	A	153660623	2	1	389	1	0	0	0	0	0	0	0	1	10665	962	34	4		4	NPR1	1	153660623	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	3753696	153660623	95589998	21	74706											
HAX1	10456	broad.mit.edu	37	chr1	154246071	154246071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccttgccttcccatcctCctggtgtgtggctttcccta	3	14	9	15	0	0	0	0	0	0	0	4	1	4	1	6	3	1	1	6	3	1	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:154246071C>A	ENST00000328703.7	+	2	526	c.313C>A	c.(313-315)Cct>Act	p.P105T	HAX1_ENST00000483970.2_Missense_Mutation_p.P105T|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Missense_Mutation_p.P57T	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	105						actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCCATCCTCCTGGTGTGTG	0.527									Kostmann syndrome				13	49					4.3838e-07	5.07598e-07	1	0	A	154246071	C	A	154246071	3	1	389	1	0	0	0	0	1	0	0	0	7025	855	30	2	319	2	HAX1	1	154246071	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	585448	154246071	95004550	22	74707											
CHRNB2	1141	broad.mit.edu	37	chr1	154544328	154544328	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcttcctggagaagctGcccgcgctgctcttcatgca	5	11	11	14	3	3	1	1	0	2	1	5	2	4	1	2	1	4	4	2	1	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:154544328G>T	ENST00000368476.3	+	5	1293	c.1029G>T	c.(1027-1029)ctG>ctT	p.L343L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	343					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TGGAGAAGCTGCCCGCGCTGC	0.687													3	20					0.004672	0.00487238	1	0	T	154544328	G	T	154544328	2	4	389	1	0	0	0	0	0	0	0	1	3420	1306	46	4		4	CHRNB2	1	154544328	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	298257	154544328	94706293	23	74708											
MUC1	4582	broad.mit.edu	37	chr1	155161748	155161748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgggggggcggtggagcCcggggctggcttgttgtccg	1	8	23	9	3	0	0	0	0	0	0	1	1	1	1	2	9	1	4	2	9	0	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:155161748C>T	ENST00000368395.1	-	2	456	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	MUC1_ENST00000368390.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000343256.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	909	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGGTGGAGCCCGGGGCTGGC	0.746			T	IGH@	B-NHL								5	5					0	0	0	0	T	155161748	C	T	155161748	3	4	389	1	0	0	0	0	1	0	0	0	10040	638	22	4		4	MUC1	1	155161748	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	617420	155161748	94088873	24	74709											
CD1B	910	broad.mit.edu	37	chr1	158299261	158299261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccagggttgctcggagaTaccatgtccagttagcattg	9	11	11	10	1	0	1	0	0	0	1	3	2	2	1	3	2	3	4	3	2	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:158299261T>C	ENST00000368168.3	-	4	892	c.785A>G	c.(784-786)tAt>tGt	p.Y262C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	262	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGCTCGGAGATACCATGTCCA	0.597													5	119					0	0	0	0	C	158299261	T	C	158299261	3	2	389	1	0	0	0	0	1	0	0	0	3004	1406	49	5	228	5	CD1B	1	158299261	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	3137513	158299261	90951360	25	74710											
SPTA1	6708	broad.mit.edu	37	chr1	158637774	158637774	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagttttctgtatgttttCcagctgggtcttattaactg	6	18	9	8	0	2	0	0	0	2	0	3	0	3	0	2	1	2	4	2	1	3	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:158637774C>A	ENST00000368148.3	-	15	2092	c.1912G>T	c.(1912-1914)Gaa>Taa	p.E638*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E638*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	638					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E638K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTATGTTTTCCAGCTGGGTC	0.443													20	77					0.000175454	0.000190281	1	0	A	158637774	C	A	158637774	4	1	389	1	0	0	0	0	0	1	0	0	15206	864	30	2	5499	2	SPTA1	1	158637774	Nonsense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	338513	158637774	90612847	26	74711											
F11R	50848	broad.mit.edu	37	chr1	160970558	160970558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaggtcacccggtccTcataggaagctaccacaaga	14	5	10	12	1	2	2	2	0	0	2	3	3	3	3	3	3	2	2	3	3	6	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:160970558T>C	ENST00000368026.6	-	4	525	c.251A>G	c.(250-252)gAg>gGg	p.E84G	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	84	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACCCGGTCCTCATAGGAAGC	0.542													4	52					0	0	0	0	C	160970558	T	C	160970558	3	2	389	1	0	0	0	0	1	0	0	0	5376	1551	54	5	676	5	F11R	1	160970558	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	2332784	160970558	88280063	27	74712											
GPA33	10223	broad.mit.edu	37	chr1	167024981	167024981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacgagatctgacggccAccgtgatgttgcagaactgc	9	10	11	11	3	2	4	0	2	2	2	2	5	2	4	2	1	4	2	2	1	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:167024981A>T	ENST00000367868.3	-	5	1020	c.677T>A	c.(676-678)gTg>gAg	p.V226E	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	226	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCTGACGGCCACCGTGATGTT	0.572													5	64					0	0	0	0	T	167024981	A	T	167024981	3	4	389	1	0	0	0	0	1	0	0	0	6635	159	6	5	294	5	GPA33	1	167024981	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	6054423	167024981	82225640	28	74713											
CACNA1E	777	broad.mit.edu	37	chr1	181546996	181546996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttgaagctcgtgtcaGggatacctagtgagcatctg	8	11	13	9	1	2	2	1	2	1	0	3	3	2	3	2	2	3	2	2	2	3	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:181546996G>A	ENST00000526775.1	+	4	772	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	CACNA1E_ENST00000367570.1_Missense_Mutation_p.G203R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G203R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G203R|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G154R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G154R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	203					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCGTGTCAGGGATACCTAG	0.527													7	8					0	0	0	0	A	181546996	G	A	181546996	3	1	389	1	0	0	0	0	1	0	0	0	2567	1000	35	4	621	4	CACNA1E	1	181546996	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	14522015	181546996	67703625	29	74714											
CRB1	23418	broad.mit.edu	37	chr1	197390486	197390486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggctcagtttgtaacAtagccctcaggtttcagact	10	11	9	11	0	3	1	3	0	0	1	3	1	3	1	2	2	2	4	2	2	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:197390486A>G	ENST00000367400.3	+	6	1663	c.1528A>G	c.(1528-1530)Ata>Gta	p.I510V	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.I441V|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.I510V|CRB1_ENST00000543483.1_Missense_Mutation_p.I209V|CRB1_ENST00000367399.2_Missense_Mutation_p.I398V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	510	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTTTGTAACATAGCCCTCAG	0.498													5	53					0	0	0	0	G	197390486	A	G	197390486	3	3	389	1	0	0	0	0	1	0	0	0	3878	217	8	5	1550	5	CRB1	1	197390486	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	15843490	197390486	51860135	30	74715											
CHIT1	1118	broad.mit.edu	37	chr1	203192647	203192647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggttgtgaagcgctcCttgtctacggcagggctccc	6	9	13	13	2	1	1	0	1	1	0	3	1	3	1	3	3	2	4	3	3	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:203192647C>T	ENST00000367229.1	-	5	490	c.456G>A	c.(454-456)aaG>aaA	p.K152K	CHIT1_ENST00000255427.3_Silent_p.K133K|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.K143K	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	152					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGAAGCGCTCCTTGTCTACGG	0.617													17	80					0	0	0	0	T	203192647	C	T	203192647	2	4	389	1	0	0	0	0	0	0	0	1	3375	680	24	4		4	CHIT1	1	203192647	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	5802161	203192647	46057974	31	74716											
PLEKHA6	22874	broad.mit.edu	37	chr1	204214757	204214757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccacctctgtgcttggcgGtgtccgtgccccgggagggg	3	8	16	14	3	1	0	0	0	1	0	2	1	2	1	5	5	2	1	5	5	0	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:204214757G>A	ENST00000272203.3	-	14	2334	c.2018C>T	c.(2017-2019)aCc>aTc	p.T673I	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T693I	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	673										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTGCTTGGCGGTGTCCGTGCC	0.607													9	42					0	0	0	0	A	204214757	G	A	204214757	3	1	389	1	0	0	0	0	1	0	0	0	12132	1261	44	4	1164	4	PLEKHA6	1	204214757	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1022110	204214757	45035864	32	74717											
KCNK2	3776	broad.mit.edu	37	chr1	215259840	215259840	+	Missense_Mutation	SNP	G	G	T																															gaccattaatgttatgaaatGgaagacggtctccacgatat																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:215259840G>T	ENST00000444842.2	+	2	326	c.176G>T	c.(175-177)tGg>tTg	p.W59L	KCNK2_ENST00000391894.2_Missense_Mutation_p.W44L|KCNK2_ENST00000391895.2_Missense_Mutation_p.W55L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	59							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTTATGAAATGGAAGACGGTC	0.512													6	61					3.59834e-05	3.96762e-05	1	0	T	215259840	G	T	215259840	3	4	389	1	0	0	0	0	1	0	0	0	8119	1357	47	4	225	4	KCNK2	1	215259840	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	11045083	215259840	33990781	33	74718	1006	2									
KCNK2	3776	broad.mit.edu	37	chr1	215259841	215259841	+	Missense_Mutation	SNP	G	G	T																															accattaatgttatgaaatgGaagacggtctccacgatatt																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:215259841G>T	ENST00000444842.2	+	2	327	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KCNK2_ENST00000391894.2_Missense_Mutation_p.W44C|KCNK2_ENST00000391895.2_Missense_Mutation_p.W55C	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	59							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TTATGAAATGGAAGACGGTCT	0.512													6	61					3.59834e-05	3.96762e-05	1	0	T	215259841	G	T	215259841	3	4	389	1	0	0	0	0	1	0	0	0	8119	1183	41	2	226	2	KCNK2	1	215259841	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1	215259841	33990780	34	74719	1006	2									
USH2A	7399	broad.mit.edu	37	chr1	215820916	215820916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagccgtactgcccacctcGttgtgtgccaccactctcag	7	9	9	16	2	1	0	1	0	1	0	3	1	1	0	5	0	4	2	5	0	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:215820916G>A	ENST00000366943.2	-	67	15125	c.14739C>T	c.(14737-14739)aaC>aaT	p.N4913N	USH2A_ENST00000307340.3_Silent_p.N4913N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4913	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCCCACCTCGTTGTGTGCCA	0.527										HNSCC(13;0.011)			3	42					0	0	0	0	A	215820916	G	A	215820916	2	1	389	1	0	0	0	0	0	0	0	1	17132	1136	40	1		1	USH2A	1	215820916	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	561075	215820916	33429705	35	74720											
URB2	9816	broad.mit.edu	37	chr1	229772453	229772453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtctgaaggagccatccAaagtttgaggtgcgatgctg	9	9	14	9	2	1	2	0	2	1	0	2	4	2	3	3	3	3	2	3	3	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:229772453A>G	ENST00000258243.2	+	4	2229	c.2093A>G	c.(2092-2094)cAa>cGa	p.Q698R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	698						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGAGCCATCCAAAGTTTGAGG	0.458													24	221					0	0	0	0	G	229772453	A	G	229772453	3	3	389	1	0	0	0	0	1	0	0	0	17121	130	5	5	2103	5	URB2	1	229772453	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	13951537	229772453	19478168	36	74721											
RGS7	6000	broad.mit.edu	37	chr1	240979623	240979623	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggttgactcacctgttgTtgtaactcatcttctgttgg	7	17	9	8	0	4	1	2	1	2	0	4	1	4	1	1	2	1	5	1	2	2	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:240979623T>C	ENST00000366565.1	-	11	1158	c.777A>G	c.(775-777)caA>caG	p.Q259Q	RGS7_ENST00000331110.7_Silent_p.Q233Q|RGS7_ENST00000366564.1_Silent_p.Q259Q|RGS7_ENST00000366563.1_Silent_p.Q259Q|RGS7_ENST00000446183.2_Silent_p.Q175Q|RGS7_ENST00000407727.1_Silent_p.Q259Q|RGS7_ENST00000401882.1_Silent_p.Q206Q|RGS7_ENST00000366562.4_Silent_p.Q259Q|RGS7_ENST00000348120.2_Silent_p.Q206Q	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	259	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCACCTGTTGTTGTAACTCAT	0.373													14	84					0	0	0	0	C	240979623	T	C	240979623	2	2	389	1	0	0	0	0	0	0	0	1	13393	1722	60	5		5	RGS7	1	240979623	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	11207170	240979623	8270998	37	74722											
CEP170	9859	broad.mit.edu	37	chr1	243329016	243329016	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctttgttcttgttgtTgaagttttgctaatgtttgc	4	21	8	8	0	1	1	0	1	1	0	2	1	2	1	2	0	2	6	2	0	2	9			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:243329016T>G	ENST00000366542.1	-	13	2297	c.2246A>C	c.(2245-2247)cAa>cCa	p.Q749P	CEP170_ENST00000366544.1_Missense_Mutation_p.Q651P|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.Q651P	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	749						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCTTGTTGTTGAAGTTTTGC	0.378													32	114					0	0	0	0	G	243329016	T	G	243329016	3	3	389	1	0	0	0	0	1	0	0	0	3279	1812	63	5	2570	5	CEP170	1	243329016	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	2349393	243329016	5921605	38	74723											
OR2G2	81470	broad.mit.edu	37	chr1	247752084	247752084	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacactgtcttaatgcatatCcatctctgcatggccttggc	8	14	7	12	0	2	0	0	0	2	0	4	0	3	0	2	2	3	2	2	2	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:247752084C>T	ENST00000320065.1	+	1	423	c.423C>T	c.(421-423)atC>atT	p.I141I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TAATGCATATCCATCTCTGCA	0.572													44	109					0	0	0	0	T	247752084	C	T	247752084	2	4	389	1	0	0	0	0	0	0	0	1	11069	845	30	2		2	OR2G2	1	247752084	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	4423068	247752084	1498537	39	74724											
OR2W3	343171	broad.mit.edu	37	chr1	248059654	248059654	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttctatggaaacatcAtctacatgtacatgcagcca	12	12	5	12	0	3	0	1	0	2	0	3	1	3	1	2	1	5	2	2	1	4	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:248059654A>G	ENST00000537741.1	+	3	1023	c.766A>G	c.(766-768)Atc>Gtc	p.I256V	OR2W3_ENST00000360358.3_Missense_Mutation_p.I256V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGAAACATCATCTACATGTA	0.527													4	85					0	0	0	0	G	248059654	A	G	248059654	3	3	389	1	0	0	0	0	1	0	0	0	11104	217	8	5	768	5	OR2W3	1	248059654	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	307570	248059654	1190967	40	74725											
MYT1L	23040	broad.mit.edu	37	chr2	1920986	1920986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtggacttactttctggagGgaccctatctttgtgcgggc	5	13	13	10	2	2	0	0	0	2	0	2	3	2	3	1	4	2	0	1	4	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:1920986G>T	ENST00000399161.2	-	11	2356	c.1609C>A	c.(1609-1611)Cct>Act	p.P537T	MYT1L_ENST00000428368.2_Missense_Mutation_p.P535T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	537					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTCTGGAGGGACCCTATCT	0.567													65	137					2.23399e-28	3.18551e-28	1	0	T	1920986	G	T	1920986	3	4	389	1	0	0	0	0	1	0	0	0	10177	1232	43	4	2011	4	MYT1L	2	1920986	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08		1920986	241278387	41	74726											
RSAD2	91543	broad.mit.edu	37	chr2	7035913	7035913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatgaattttctagatgcGctttctgaactgtagaaagg	11	15	10	5	1	2	4	0	2	2	2	2	4	2	4	0	1	2	3	0	1	6	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:7035913G>T	ENST00000382040.3	+	6	1062	c.926G>T	c.(925-927)cGc>cTc	p.R309L	RSAD2_ENST00000541728.1_Missense_Mutation_p.R202L	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	309					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.R309H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTCTAGATGCGCTTTCTGAAC	0.368													9	29					7.48243e-07	8.57787e-07	1	0	T	7035913	G	T	7035913	3	4	389	1	0	0	0	0	1	0	0	0	13780	1087	38	3	948	3	RSAD2	2	7035913	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	5114927	7035913	236163460	42	74727											
MYCN	4613	broad.mit.edu	37	chr2	16086155	16086155	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaccagcttttgctggaaaAggaaaaattgcaggcaagac	15	7	11	8	0	0	1	0	0	0	1	0	3	0	3	1	3	3	5	1	3	5	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:16086155A>T	ENST00000281043.3	+	3	1628	c.1331A>T	c.(1330-1332)aAg>aTg	p.K444M		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	444	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TTGCTGGAAAAGGAAAAATTG	0.488			A		neuroblastoma								48	139					0	0	0	0	T	16086155	A	T	16086155	3	4	389	1	0	0	0	0	1	0	0	0	10091	72	3	5	1337	5	MYCN	2	16086155	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	9050242	16086155	227113218	43	74728											
APOB	338	broad.mit.edu	37	chr2	21231271	21231271	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcactgactccttcagAgccagcggattaatcttagg	11	11	8	11	1	3	2	2	1	1	1	4	3	4	3	2	2	3	0	2	2	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:21231271A>T	ENST00000233242.1	-	26	8596	c.8469T>A	c.(8467-8469)gcT>gcA	p.A2823A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2823					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTCCTTCAGAGCCAGCGGAT	0.423													14	161					0	0	0	0	T	21231271	A	T	21231271	2	4	389	1	0	0	0	0	0	0	0	1	787	291	11	5		5	APOB	2	21231271	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	5145116	21231271	221968102	44	74729											
C2orf53	339779	broad.mit.edu	37	chr2	27360922	27360922	+	Silent	SNP	T	T	C																															tgaaagaaagtaggggaactTgggagagagggagaataggg																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:27360922T>C	ENST00000335524.3	-	3	801	c.276A>G	c.(274-276)ccA>ccG	p.P92P		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	92	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGGGAACTTGGGAGAGAGG	0.572													15	31					0	0	0	0	C	27360922	T	C	27360922	2	2	389	1	0	0	0	0	0	0	0	1	2194	1799	63	5		5	C2orf53	2	27360922	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	6129651	27360922	215838451	45	74730	1007	2									
C2orf53	339779	broad.mit.edu	37	chr2	27360930	27360930	+	Missense_Mutation	SNP	A	A	T																															agtaggggaacttgggagagAgggagaatagggatgtggag																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:27360930A>T	ENST00000335524.3	-	3	793	c.268T>A	c.(268-270)Tct>Act	p.S90T		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	90	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGAGAGAGGGAGAATAG	0.577													20	28					0	0	0	0	T	27360930	A	T	27360930	3	4	389	1	0	0	0	0	1	0	0	0	2194	304	11	5	974	5	C2orf53	2	27360930	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	8	27360930	215838443	46	74731	1007	2									
CLIP4	79745	broad.mit.edu	37	chr2	29404682	29404682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcacctgtaagccgaacCatggagtcttagttcgaccg	10	11	9	11	3	2	0	1	0	1	0	3	3	2	1	4	1	2	2	4	1	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:29404682C>A	ENST00000320081.5	+	16	2296	c.2041C>A	c.(2041-2043)Cat>Aat	p.H681N	CLIP4_ENST00000404424.1_Missense_Mutation_p.H681N|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	681	CAP-Gly 3.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TAAGCCGAACCATGGAGTCTT	0.448													63	85					2.23399e-28	3.18551e-28	1	0	A	29404682	C	A	29404682	3	1	389	1	0	0	0	0	1	0	0	0	3565	594	21	4	2099	4	CLIP4	2	29404682	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2043752	29404682	213794691	47	74732											
DYSF	8291	broad.mit.edu	37	chr2	71747932	71747932	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttagggcacgcctatctCaggaagtggctgctgctctc	6	11	11	13	1	3	0	1	0	3	0	5	1	3	1	1	3	2	4	1	3	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:71747932C>A	ENST00000258104.3	+	11	1228	c.951C>A	c.(949-951)ctC>ctA	p.L317L	DYSF_ENST00000409366.1_Silent_p.L318L|DYSF_ENST00000409762.1_Silent_p.L348L|DYSF_ENST00000409582.3_Silent_p.L348L|DYSF_ENST00000409651.1_Silent_p.L349L|DYSF_ENST00000409744.1_Silent_p.L318L|DYSF_ENST00000394120.2_Silent_p.L318L|DYSF_ENST00000410041.1_Silent_p.L349L|DYSF_ENST00000410020.3_Silent_p.L349L|DYSF_ENST00000413539.2_Silent_p.L348L|DYSF_ENST00000429174.2_Silent_p.L317L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	317						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.L317L(1)|p.L349L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACGCCTATCTCAGGAAGTGGC	0.587													45	48					5.73435e-26	8.07704e-26	1	0	A	71747932	C	A	71747932	2	1	389	1	0	0	0	0	0	0	0	1	4895	813	29	2		2	DYSF	2	71747932	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	42343250	71747932	171451441	48	74733											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315279	73315279	+	Frame_Shift_Del	DEL	G	G	-																															tgtggggaggcccccaggatGggaccccccttttcccccag																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:73315279delG	ENST00000258098.6	-	3	1707	c.1467delC	c.(1465-1467)ccfs	p.P489fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	489					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCCCCAGGATGGGACCCCCCT	0.607													28	119	---	---	---	---					-	73315279	G	-	73315279	7	5	389	1	0	1	0	1	0	0	0	0	12979	1335	47	0	506	0	RAB11FIP5	2	73315279	Frame_Shift_Del	DEL	G	TCGA-DQ-7589-01A-11D-2229-08	1567347	73315279	169884094	49	74734											
THNSL2	55258	broad.mit.edu	37	chr2	88478357	88478357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactgtgtttgccgatgtGgcttttgtcaagaagcacaa	11	12	11	7	1	1	2	1	0	0	2	1	3	1	2	1	1	2	3	1	1	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:88478357G>A	ENST00000324166.5	+	4	2318	c.627G>A	c.(625-627)gtG>gtA	p.V209V	THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Silent_p.V177V|THNSL2_ENST00000402102.1_Silent_p.V209V|THNSL2_ENST00000343544.4_Silent_p.V209V|THNSL2_ENST00000358591.2_Silent_p.V209V|THNSL2_ENST00000377254.3_Silent_p.V209V	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	209					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TTGCCGATGTGGCTTTTGTCA	0.527													15	113					0	0	0	0	A	88478357	G	A	88478357	2	1	389	1	0	0	0	0	0	0	0	1	15957	1335	47	4		4	THNSL2	2	88478357	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	15163078	88478357	154721016	50	74735											
TMEM182	130827	broad.mit.edu	37	chr2	103431406	103431406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatttctggttgttggatgGcatattcagatacatcacta	10	16	8	7	0	3	1	2	0	1	1	3	2	3	2	0	3	1	3	0	3	4	8			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:103431406G>T	ENST00000412401.2	+	5	874	c.669G>T	c.(667-669)tgG>tgT	p.W223C	TMEM182_ENST00000409528.1_Missense_Mutation_p.W127C|TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Missense_Mutation_p.W180C	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	223			W -> R (in dbSNP:rs887987).			integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTGTTGGATGGCATATTCAGA	0.368													4	34					0.150653	0.152302	1	0	T	103431406	G	T	103431406	3	4	389	1	0	0	0	0	1	0	0	0	16195	1212	42	4	687	4	TMEM182	2	103431406	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	14953049	103431406	139767967	51	74736											
SULT1C2	6819	broad.mit.edu	37	chr2	108924878	108924878	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgaaatctatagaagAaagatggaaggaacctccat	17	10	9	5	0	1	5	0	2	1	3	2	7	2	7	2	2	1	0	2	2	7	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:108924878A>G	ENST00000326853.5	+	9	1335	c.882A>G	c.(880-882)agA>agG	p.R294R	SULT1C2_ENST00000251481.6_Silent_p.R283R|SULT1C2_ENST00000437390.2_Silent_p.R297R|SULT1C2_ENST00000409880.1_Silent_p.R246R	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	283					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTATAGAAGAAAGATGGAAG	0.408													21	54					0	0	0	0	G	108924878	A	G	108924878	2	3	389	1	0	0	0	0	0	0	0	1	15467	243	9	5		5	SULT1C2	2	108924878	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	5493472	108924878	134274495	52	74737											
POLR1B	84172	broad.mit.edu	37	chr2	113330186	113330186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcacttatcaagaccgatcgGataacaaactgtatcgtctt	13	12	6	10	3	3	1	2	0	1	1	5	3	3	2	1	1	2	1	1	1	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:113330186G>A	ENST00000263331.5	+	13	2702	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	POLR1B_ENST00000409894.3_Missense_Mutation_p.D525N|POLR1B_ENST00000541869.1_Missense_Mutation_p.D746N|POLR1B_ENST00000417433.2_Missense_Mutation_p.D652N|POLR1B_ENST00000537335.1_Missense_Mutation_p.D497N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	708					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGACCGATCGGATAACAAACT	0.403													23	47					0	0	0	0	A	113330186	G	A	113330186	3	1	389	1	0	0	0	0	1	0	0	0	12282	1174	41	2	2172	2	POLR1B	2	113330186	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4405308	113330186	129869187	53	74738											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192127	125192127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaatcagaagttgatgaGtactctcaaagatgtgatct	13	13	9	6	0	4	5	3	3	2	2	5	5	4	5	0	0	1	3	0	0	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:125192127G>A	ENST00000431078.1	+	5	960	c.596G>A	c.(595-597)aGt>aAt	p.S199N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	199	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGTTGATGAGTACTCTCAAA	0.463													15	43					0	0	0	0	A	125192127	G	A	125192127	3	1	389	1	0	0	0	0	1	0	0	0	3680	1029	36	4	614	4	CNTNAP5	2	125192127	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	11861941	125192127	118007246	54	74739											
RAB6C	84084	broad.mit.edu	37	chr2	130738096	130738096	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgacaagaggcaagtGtcagttgaggagggagagag	12	7	17	5	0	1	4	1	2	0	2	1	7	1	6	0	3	1	3	0	3	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:130738096G>C	ENST00000410061.2	+	1	862	c.408G>C	c.(406-408)gtG>gtC	p.V136V		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	136					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGAGGCAAGTGTCAGTTGAGG	0.423													6	196					0	0	0	0	C	130738096	G	C	130738096	2	2	389	1	0	0	0	0	0	0	0	1	13035	1364	48	4		4	RAB6C	2	130738096	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	5545969	130738096	112461277	55	74740											
MBD5	55777	broad.mit.edu	37	chr2	149248053	149248053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaccaaggacgttcaatGttggcgacttggtctggggc	9	10	14	8	2	2	1	1	0	1	1	2	3	2	2	1	5	0	2	1	5	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:149248053G>A	ENST00000407073.1	+	12	5150	c.4153G>A	c.(4153-4155)Gtt>Att	p.V1385I	MBD5_ENST00000404807.1_Missense_Mutation_p.V1618I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1385	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GACGTTCAATGTTGGCGACTT	0.448													10	47					0	0	0	0	A	149248053	G	A	149248053	3	1	389	1	0	0	0	0	1	0	0	0	9416	1377	48	4	4179	4	MBD5	2	149248053	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	18509957	149248053	93951320	56	74741											
KIF5C	3800	broad.mit.edu	37	chr2	149853788	149853788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacagaaaaaatgcaCgaagtcagcttccaggataa	19	7	7	8	1	2	1	2	0	0	1	3	3	3	2	1	1	3	2	1	1	7	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:149853788C>T	ENST00000435030.1	+	18	2402	c.2034C>T	c.(2032-2034)caC>caT	p.H678H	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.H583H|KIF5C_ENST00000397413.1_Silent_p.H446H			O60282	KIF5C_HUMAN	kinesin family member 5C	678					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAAATGCACGAAGTCAGCT	0.408													7	14					0	0	0	0	T	149853788	C	T	149853788	2	4	389	1	0	0	0	0	0	0	0	1	8358	535	19	1		1	KIF5C	2	149853788	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	605735	149853788	93345585	57	74742											
KCNJ3	3760	broad.mit.edu	37	chr2	155566181	155566181	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactggatgtaggttttagtAcaggggcagatcaacttttt	11	14	11	5	0	1	1	1	0	0	1	1	2	1	2	0	4	3	4	0	4	5	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:155566181A>T	ENST00000295101.2	+	2	1246	c.769A>T	c.(769-771)Aca>Tca	p.T257S	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	257					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGTTTTAGTACAGGGGCAGA	0.478													5	46					0	0	0	0	T	155566181	A	T	155566181	3	4	389	1	0	0	0	0	1	0	0	0	8105	391	14	5	775	5	KCNJ3	2	155566181	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	5712393	155566181	87633192	58	74743											
XIRP2	129446	broad.mit.edu	37	chr2	168104414	168104414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatccagtcagcatgcCagttggaggaacttacgacc	11	7	10	13	1	1	0	1	0	0	0	2	3	2	2	4	2	5	3	4	2	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:168104414C>A	ENST00000409195.1	+	9	6601	c.6512C>A	c.(6511-6513)cCa>cAa	p.P2171Q	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2171Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1949Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1996	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCAGCATGCCAGTTGGAGGA	0.353													9	39					7.48243e-07	8.57787e-07	1	0	A	168104414	C	A	168104414	3	1	389	1	0	0	0	0	1	0	0	0	17526	594	21	4	6542	4	XIRP2	2	168104414	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	12538233	168104414	75094959	59	74744											
LRP2	4036	broad.mit.edu	37	chr2	170053482	170053482	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgatcacaataccaatgTtgaggaatacagcgcccaga	14	9	8	10	1	2	3	1	2	1	1	2	4	2	4	2	1	3	1	2	1	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:170053482T>C	ENST00000263816.3	-	46	8922	c.8637A>G	c.(8635-8637)caA>caG	p.Q2879Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2879	LDL-receptor class A 20.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATACCAATGTTGAGGAATAC	0.458													10	50					0	0	0	0	C	170053482	T	C	170053482	2	2	389	1	0	0	0	0	0	0	0	1	9020	1722	60	5		5	LRP2	2	170053482	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	1949068	170053482	73145891	60	74745											
MYO3B	140469	broad.mit.edu	37	chr2	171248954	171248954	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggagtcttacagaagAcaattcgaagcaattcagca	16	8	8	9	1	2	2	1	0	1	2	4	4	3	3	1	1	3	2	1	1	6	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:171248954A>G	ENST00000334231.6	+	16	1767	c.1767A>G	c.(1765-1767)agA>agG	p.R589R	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.R580R|MYO3B_ENST00000409044.3_Silent_p.R580R			Q8WXR4	MYO3B_HUMAN	myosin IIIB	580	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTACAGAAGACAATTCGAAG	0.403													10	46					0	0	0	0	G	171248954	A	G	171248954	2	3	389	1	0	0	0	0	0	0	0	1	10147	272	10	5		5	MYO3B	2	171248954	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1195472	171248954	71950419	61	74746											
CERKL	375298	broad.mit.edu	37	chr2	182413560	182413560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcggtgctgaaggtgCagacgtcgaccagctgtaca	9	7	14	11	3	0	2	0	1	0	1	1	3	0	2	2	2	6	4	2	2	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:182413560C>T	ENST00000410087.3	-	7	1020	c.920G>A	c.(919-921)tGc>tAc	p.C307Y	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Missense_Mutation_p.C333Y|CERKL_ENST00000409440.3_Missense_Mutation_p.C289Y|CERKL_ENST00000374969.2_Missense_Mutation_p.C194Y|CERKL_ENST00000374970.2_Missense_Mutation_p.C238Y	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	333	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCTGAAGGTGCAGACGTCGAC	0.433													14	40					0	0	0	0	T	182413560	C	T	182413560	3	4	389	1	0	0	0	0	1	0	0	0	3297	710	25	4	706	4	CERKL	2	182413560	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	11164606	182413560	60785813	62	74747											
CALCRL	10203	broad.mit.edu	37	chr2	188225464	188225464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgaatgaactgggaCactttgcaactaacctgtga	15	10	9	7	0	0	4	0	3	0	1	0	5	0	5	1	1	4	1	1	1	6	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:188225464C>T	ENST00000409998.1	-	11	1423	c.642G>A	c.(640-642)gtG>gtA	p.V214V	CALCRL_ENST00000410068.1_Silent_p.V214V|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.V214V|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	214						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGAACTGGGACACTTTGCAAC	0.393													5	35					0	0	0	0	T	188225464	C	T	188225464	2	4	389	1	0	0	0	0	0	0	0	1	2605	465	17	4		4	CALCRL	2	188225464	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	5811904	188225464	54973909	63	74748											
COL3A1	1281	broad.mit.edu	37	chr2	189873733	189873733	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggtgttggagccgcTgccattgctgggattggagg	4	12	19	6	1	0	0	0	0	0	0	0	3	0	3	2	6	3	3	2	6	0	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:189873733T>G	ENST00000304636.3	+	48	3779	c.3609T>G	c.(3607-3609)gcT>gcG	p.A1203A	COL3A1_ENST00000317840.5_Silent_p.A900A	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1203	Nonhelical region (C-terminal).			A -> P (in Ref. 8; CAA33387).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTGGAGCCGCTGCCATTGCTG	0.537													15	56					0	0	0	0	G	189873733	T	G	189873733	2	3	389	1	0	0	0	0	0	0	0	1	3718	1567	55	5		5	COL3A1	2	189873733	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	1648269	189873733	53325640	64	74749											
VIL1	7429	broad.mit.edu	37	chr2	219299411	219299411	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagacccagtcttgctgcTatctatggtgtgggaaggtg	8	12	13	8	0	3	1	1	0	2	1	3	2	3	2	1	3	2	2	1	3	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:219299411T>A	ENST00000248444.5	+	14	1751	c.1663T>A	c.(1663-1665)Tat>Aat	p.Y555N	VIL1_ENST00000392114.2_Missense_Mutation_p.Y244N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	555	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTTGCTGCTATCTATGGTG	0.577													32	27					0	0	0	0	A	219299411	T	A	219299411	3	1	389	1	0	0	0	0	1	0	0	0	17260	1522	53	5	1713	5	VIL1	2	219299411	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	29425678	219299411	23899962	65	74750											
SCG2	7857	broad.mit.edu	37	chr2	224462853	224462853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggaaggtcaagctccCgctccggttccactgatcca	10	7	9	15	2	1	1	1	1	0	0	5	2	5	2	4	3	2	3	4	3	3	1	rs139176325		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:224462853C>A	ENST00000305409.2	-	2	1380	c.1148G>T	c.(1147-1149)cGg>cTg	p.R383L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	383					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTCAAGCTCCCGCTCCGGTTC	0.483													9	61					3.09899e-07	3.60638e-07	1	0	A	224462853	C	A	224462853	3	1	389	1	0	0	0	0	1	0	0	0	13977	652	23	3	709	3	SCG2	2	224462853	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	5163442	224462853	18736520	66	74751											
IRS1	3667	broad.mit.edu	37	chr2	227661845	227661845	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgggacggggtcttcTggtgggtaatggtaggggat	7	10	20	4	1	2	0	0	0	2	0	2	3	2	3	0	9	0	2	0	9	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:227661845T>C	ENST00000305123.4	-	1	2630	c.1610A>G	c.(1609-1611)cAg>cGg	p.Q537R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	537					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGGTCTTCTGGTGGGTAAT	0.592											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	58					0	0	0	0	C	227661845	T	C	227661845	3	2	389	1	0	0	0	0	1	0	0	0	7893	1580	55	5	2122	5	IRS1	2	227661845	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	3198992	227661845	15537528	67	74752											
PDCD1	5133	broad.mit.edu	37	chr2	242794394	242794394	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggacccagactagcAgcaccaggctgcccagcagg	10	2	13	16	1	0	1	0	0	0	1	0	2	0	2	4	4	4	4	4	4	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:242794394A>T	ENST00000334409.5	-	3	617	c.548T>A	c.(547-549)cTg>cAg	p.L183Q		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	183					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CCAGACTAGCAGCACCAGGCT	0.701													6	6					0	0	0	0	T	242794394	A	T	242794394	3	4	389	1	0	0	0	0	1	0	0	0	11686	188	7	5	330	5	PDCD1	2	242794394	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	15132549	242794394	404979	68	74753											
UBE2E1	7324	broad.mit.edu	37	chr3	23932088	23932088	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacagtggaccaagagataCgctacataaattggggtttc	14	9	11	7	1	0	2	0	0	0	2	1	4	0	3	1	3	2	2	1	3	5	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:23932088C>A	ENST00000306627.3	+	6	792	c.573C>A	c.(571-573)taC>taA	p.Y191*	UBE2E1_ENST00000424381.1_Nonsense_Mutation_p.Y158*|UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Nonsense_Mutation_p.Y174*	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						CCAAGAGATACGCTACATAAA	0.458													22	12					4.35082e-09	5.27579e-09	1	0	A	23932088	C	A	23932088	4	1	389	1	0	0	0	0	0	1	0	0	16948	547	19	3	591	3	UBE2E1	3	23932088	Nonsense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		23932088	174090342	69	74754											
SCN10A	6336	broad.mit.edu	37	chr3	38760311	38760311	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtccaggtaatagtcttCaaaggcctggaaggaagaaa	14	8	12	7	0	2	1	1	0	1	1	3	3	3	3	2	5	0	1	2	5	6	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:38760311C>G	ENST00000449082.2	-	20	3513	c.3514G>C	c.(3514-3516)Gaa>Caa	p.E1172Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1172					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAATAGTCTTCAAAGGCCTGG	0.542													3	31					0	0	0	0	G	38760311	C	G	38760311	3	3	389	1	0	0	0	0	1	0	0	0	13999	835	29	2	2388	2	SCN10A	3	38760311	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	14828223	38760311	159262119	70	74755											
PLXNB1	5364	broad.mit.edu	37	chr3	48453895	48453895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccacatactgggcaacCaggtcactgagcagagtgcg	10	7	13	11	1	1	2	1	1	0	1	1	2	1	2	2	3	4	2	2	3	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:48453895C>T	ENST00000358536.4	-	26	5258	c.4989G>A	c.(4987-4989)ctG>ctA	p.L1663L	PLXNB1_ENST00000296440.6_Silent_p.L1663L|PLXNB1_ENST00000358459.4_Silent_p.L1480L|PLXNB1_ENST00000456774.1_Silent_p.L1480L|PLXNB1_ENST00000448774.2_Silent_p.L274L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1663					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGGGCAACCAGGTCACTGA	0.622													24	17					0	0	0	0	T	48453895	C	T	48453895	2	4	389	1	0	0	0	0	0	0	0	1	12195	581	21	4		4	PLXNB1	3	48453895	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	9693584	48453895	149568535	71	74756											
CELSR3	1951	broad.mit.edu	37	chr3	48696555	48696555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgaagaggatctggaaGttgttgagcacagggctgtt	9	13	15	4	0	1	3	0	2	1	1	1	5	1	5	0	3	1	6	0	3	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:48696555G>A	ENST00000544264.1	-	1	3793	c.3513C>T	c.(3511-3513)aaC>aaT	p.N1171N	CELSR3_ENST00000164024.4_Silent_p.N1171N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1171	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATCTGGAAGTTGTTGAGCA	0.552													13	69					0	0	0	0	A	48696555	G	A	48696555	2	1	389	1	0	0	0	0	0	0	0	1	3252	1020	36	4		4	CELSR3	3	48696555	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	242660	48696555	149325875	72	74757											
CCDC71	64925	broad.mit.edu	37	chr3	49201242	49201242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtggtagcatgcttggCaagggctggtgtggatgctt	5	13	18	5	0	0	0	0	0	0	0	0	1	0	1	0	6	3	7	0	6	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:49201242C>A	ENST00000321895.6	-	2	506	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	134										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCATGCTTGGCAAGGGCTGGT	0.617													9	27					9.70103e-10	1.19199e-09	1	0	A	49201242	C	A	49201242	3	1	389	1	0	0	0	0	1	0	0	0	2871	710	25	4	1007	4	CCDC71	3	49201242	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	504687	49201242	148821188	73	74758											
PDZRN3	23024	broad.mit.edu	37	chr3	73433743	73433743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaggccgtaaggggtggcGctcttcacctggcacttgag	7	9	14	11	2	2	1	1	1	1	0	2	1	2	1	2	5	1	3	2	5	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:73433743G>T	ENST00000263666.4	-	10	2088	c.1974C>A	c.(1972-1974)agC>agA	p.S658R	PDZRN3_ENST00000479530.1_Missense_Mutation_p.S375R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S315R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S315R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S380R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	658							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AAGGGGTGGCGCTCTTCACCT	0.652													26	50					7.92952e-12	1.02046e-11	1	0	T	73433743	G	T	73433743	3	4	389	1	0	0	0	0	1	0	0	0	11780	1078	38	3	1230	3	PDZRN3	3	73433743	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	24232501	73433743	124588687	74	74759											
DZIP3	9666	broad.mit.edu	37	chr3	108373046	108373046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacaagcaaatccacaCtcagtcagtagacttataaa	20	7	5	9	0	2	2	2	0	0	2	3	2	3	2	1	0	2	2	1	0	8	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:108373046C>A	ENST00000361582.3	+	19	2318	c.2088C>A	c.(2086-2088)caC>caA	p.H696Q	DZIP3_ENST00000463306.1_Missense_Mutation_p.H696Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	696					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAAATCCACACTCAGTCAGTA	0.383													7	100					1.06961e-07	1.26384e-07	1	0	A	108373046	C	A	108373046	3	1	389	1	0	0	0	0	1	0	0	0	4901	564	20	4	2158	4	DZIP3	3	108373046	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	34939303	108373046	89649384	75	74760											
QTRTD1	79691	broad.mit.edu	37	chr3	113804644	113804644	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccggagtcctgcttatgAtgcacaactttgaacactac	10	11	9	11	1	0	2	0	2	0	0	1	3	1	3	2	2	5	2	2	2	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:113804644A>T	ENST00000281273.4	+	10	1398	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	QTRTD1_ENST00000493014.1_Missense_Mutation_p.M275L|QTRTD1_ENST00000485050.1_Missense_Mutation_p.M393L|QTRTD1_ENST00000479882.1_Missense_Mutation_p.M258L	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	381					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CCTGCTTATGATGCACAACTT	0.483													4	149					0	0	0	0	T	113804644	A	T	113804644	3	4	389	1	0	0	0	0	1	0	0	0	12968	333	12	5	1171	5	QTRTD1	3	113804644	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	5431598	113804644	84217786	76	74761											
UMPS	7372	broad.mit.edu	37	chr3	124456711	124456711	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgaagaggtttattcagGagaatgtctttgtggcagcg	10	12	15	4	1	2	3	1	1	1	2	2	5	2	3	0	3	1	2	0	3	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:124456711G>T	ENST00000232607.2	+	3	713	c.607G>T	c.(607-609)Gag>Tag	p.E203*	UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Nonsense_Mutation_p.E25*|UMPS_ENST00000413078.2_Nonsense_Mutation_p.E25*|UMPS_ENST00000536109.1_Nonsense_Mutation_p.E111*	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	203	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		GTTTATTCAGGAGAATGTCTT	0.473													9	25					2.17888e-05	2.42564e-05	1	0	T	124456711	G	T	124456711	4	4	389	1	0	0	0	0	0	1	0	0	17077	1175	41	2	617	2	UMPS	3	124456711	Nonsense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	10652067	124456711	73565719	77	74762											
COL6A6	131873	broad.mit.edu	37	chr3	130285901	130285901	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgttgtcctgacaaaTggcatgtccaaggatagcat	11	11	9	10	0	0	1	0	1	0	0	2	2	2	2	3	2	1	3	3	2	3	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:130285901T>C	ENST00000358511.6	+	4	1669	c.1638T>C	c.(1636-1638)aaT>aaC	p.N546N	COL6A6_ENST00000453409.2_Silent_p.N546N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	546	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTGACAAATGGCATGTCCA	0.483													8	96					0	0	0	0	C	130285901	T	C	130285901	2	2	389	1	0	0	0	0	0	0	0	1	3733	1461	51	5		5	COL6A6	3	130285901	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	5829190	130285901	67736529	78	74763											
BFSP2	8419	broad.mit.edu	37	chr3	133167440	133167440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggacctggagagtcaaaTagaaagtctgaaagaagaac	19	6	11	5	0	2	5	1	1	1	4	2	7	2	6	1	2	1	0	1	2	7	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:133167440T>C	ENST00000302334.2	+	3	769	c.680T>C	c.(679-681)aTa>aCa	p.I227T	RP11-91K8.1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	227	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGAGTCAAATAGAAAGTCTG	0.438													32	19					0	0	0	0	C	133167440	T	C	133167440	3	2	389	1	0	0	0	0	1	0	0	0	1421	1406	49	5	690	5	BFSP2	3	133167440	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	2881539	133167440	64854990	79	74764											
CEP70	80321	broad.mit.edu	37	chr3	138216951	138216951	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccaatttgtagataaTgctgtttaaaaaatgcacaa	15	15	5	6	0	1	1	0	0	1	1	2	1	2	1	1	0	2	4	1	0	7	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:138216951T>C	ENST00000264982.3	-	17	1920	c.1652_splice	c.e17-1	p.I552_splice	CEP70_ENST00000489254.1_Splice_Site_p.I400_splice|CEP70_ENST00000542237.1_Splice_Site_p.I532_splice|CEP70_ENST00000484888.1_Splice_Site_p.I552_splice	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	552					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTGTAGATAATGCTGTTTAAA	0.328													31	17					0	0	0	0	C	138216951	T	C	138216951	5	2	389	1	0	0	0	0	0	0	1	0	3288	1478	51	5	147	5	CEP70	3	138216951	Splice_Site	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	5049511	138216951	59805479	80	74765											
PIK3CB	5291	broad.mit.edu	37	chr3	138402532	138402532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacttaccatcaccattttTaaaaatcactccaactgaat	15	13	2	11	0	2	1	2	1	0	0	3	1	3	1	3	0	3	1	3	0	7	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:138402532T>C	ENST00000477593.1	-	17	2486	c.2413A>G	c.(2413-2415)Aaa>Gaa	p.K805E	PIK3CB_ENST00000289153.2_Missense_Mutation_p.K805E|PIK3CB_ENST00000544716.1_Missense_Mutation_p.K251E			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	805	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCACCATTTTTAAAAATCACT	0.328													23	92					0	0	0	0	C	138402532	T	C	138402532	3	2	389	1	0	0	0	0	1	0	0	0	11986	1763	61	5	825	5	PIK3CB	3	138402532	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	185581	138402532	59619898	81	74766											
CLSTN2	64084	broad.mit.edu	37	chr3	140285008	140285008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcgaagaggaggaggaGgaggaagggatgggcagagg	14	1	23	3	1	0	2	0	0	0	2	0	10	0	8	0	8	1	1	0	8	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:140285008G>A	ENST00000458420.3	+	17	2971	c.2781G>A	c.(2779-2781)gaG>gaA	p.E927E		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	927	Glu-rich (highly acidic).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGGAGGAGGAGGAGGAAGGGA	0.602										HNSCC(16;0.037)			6	28					0	0	0	0	A	140285008	G	A	140285008	2	1	389	1	0	0	0	0	0	0	0	1	3592	991	35	4		4	CLSTN2	3	140285008	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1882476	140285008	57737422	82	74767											
ZBTB38	253461	broad.mit.edu	37	chr3	141161623	141161623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacttctcaaattccccGggtccctatgtattctgtat	8	14	6	13	2	2	0	1	0	2	0	5	0	4	0	3	1	1	3	3	1	5	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:141161623G>A	ENST00000514251.1	+	4	672	c.393G>A	c.(391-393)ccG>ccA	p.P131P	ZBTB38_ENST00000321464.5_Silent_p.P132P|ZBTB38_ENST00000441582.2_Silent_p.P131P			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	131					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAAATTCCCCGGGTCCCTATG	0.428													13	87					0	0	0	0	A	141161623	G	A	141161623	2	1	389	1	0	0	0	0	0	0	0	1	17634	1103	39	1		1	ZBTB38	3	141161623	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	876615	141161623	56860807	83	74768											
GYG1	2992	broad.mit.edu	37	chr3	148714198	148714198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagttgggtgtcacgctgAcaaagctccactgctggtcg	8	9	13	11	2	1	2	1	1	0	1	3	2	2	2	1	2	2	4	1	2	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:148714198A>G	ENST00000345003.4	+	3	553	c.253A>G	c.(253-255)Aca>Gca	p.T85A	GYG1_ENST00000484197.1_Missense_Mutation_p.T85A|GYG1_ENST00000483267.1_Missense_Mutation_p.T85A|GYG1_ENST00000296048.6_Missense_Mutation_p.T85A	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	85					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTCACGCTGACAAAGCTCCA	0.448													43	140					0	0	0	0	G	148714198	A	G	148714198	3	3	389	1	0	0	0	0	1	0	0	0	6955	275	10	5	263	5	GYG1	3	148714198	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	7552575	148714198	49308232	84	74769											
SI	6476	broad.mit.edu	37	chr3	164764695	164764695	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattccatttgttcccatgaAgcagtattgtctcctaacca	10	14	5	12	0	1	1	0	1	1	0	4	1	3	1	4	0	2	3	4	0	3	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:164764695A>T	ENST00000264382.3	-	16	1883	c.1821T>A	c.(1819-1821)gcT>gcA	p.A607A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	607	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCCCATGAAGCAGTATTGT	0.388										HNSCC(35;0.089)			98	54					0	0	0	0	T	164764695	A	T	164764695	2	4	389	1	0	0	0	0	0	0	0	1	14385	59	3	5		5	SI	3	164764695	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	16050497	164764695	33257735	85	74770											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	85					0	0	0	0	G	178952072	A	G	178952072	3	3	389	1	0	0	0	0	1	0	0	0	11985	101	4	5	3205	5	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	14187377	178952072	19070358	86	74771											
TTC14	151613	broad.mit.edu	37	chr3	180324349	180324349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccaactcacagaaatgCaagaaaatacctctgccaga	16	7	6	12	0	2	3	1	0	1	3	3	3	3	3	3	0	4	1	3	0	6	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:180324349C>G	ENST00000412756.2	+	9	1199	c.1130C>G	c.(1129-1131)gCa>gGa	p.A377G	TTC14_ENST00000382584.4_Missense_Mutation_p.A377G|TTC14_ENST00000296015.4_Missense_Mutation_p.A377G	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	377							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CACAGAAATGCAAGAAAATAC	0.363													8	170					0	0	0	0	G	180324349	C	G	180324349	3	3	389	1	0	0	0	0	1	0	0	0	16777	710	25	4	1164	4	TTC14	3	180324349	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1372277	180324349	17698081	87	74772											
LPP	4026	broad.mit.edu	37	chr3	188590479	188590479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggagcctattatgccagcCccgggccaggaggagactgt	10	6	14	11	1	0	1	0	0	0	1	0	4	0	3	5	4	3	0	5	4	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:188590479C>T	ENST00000312675.4	+	10	1884	c.1638C>T	c.(1636-1638)gcC>gcT	p.A546A	LPP_ENST00000543006.1_Silent_p.A546A	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	546	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTATGCCAGCCCCGGGCCAGG	0.547			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								11	165					0	0	0	0	T	188590479	C	T	188590479	2	4	389	1	0	0	0	0	0	0	0	1	8987	610	22	4		4	LPP	3	188590479	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8266130	188590479	9431951	88	74773											
PDE6B	5158	broad.mit.edu	37	chr4	619655	619655	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtggtcttcaaggtcctGcggcgcctctgcaccctcct	3	10	11	17	4	3	0	1	0	2	0	5	0	5	0	4	3	2	1	4	3	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:619655G>A	ENST00000255622.6	+	1	283	c.240G>A	c.(238-240)ctG>ctA	p.L80L	PDE6B_ENST00000496514.1_Silent_p.L80L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	80	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCAAGGTCCTGCGGCGCCTCT	0.662													3	9					0	0	0	0	A	619655	G	A	619655	2	1	389	1	0	0	0	0	0	0	0	1	11717	1306	46	4		4	PDE6B	4	619655	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08		619655	190534621	89	74774											
GAK	2580	broad.mit.edu	37	chr4	853408	853408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttaccttggaggccggagCtgaggtcgccaaggtcagca	8	7	15	11	3	1	1	1	1	0	0	2	3	1	3	3	5	3	3	3	5	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:853408C>A	ENST00000314167.4	-	24	3379	c.3269G>T	c.(3268-3270)aGc>aTc	p.S1090I	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S1011I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1090					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GAGGCCGGAGCTGAGGTCGCC	0.587													9	53					0.00621372	0.00646562	1	0	A	853408	C	A	853408	3	1	389	1	0	0	0	0	1	0	0	0	6244	797	28	4	686	4	GAK	4	853408	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	233753	853408	190300868	90	74775											
GAK	2580	broad.mit.edu	37	chr4	860203	860203	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggagcactgtgggcagAcgggaaggatggtgggacgg	8	4	23	6	3	0	1	0	0	0	1	0	5	0	5	0	8	1	2	0	8	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:860203A>C	ENST00000314167.4	-	22	3102	c.2992T>G	c.(2992-2994)Tct>Gct	p.S998A	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S919A	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	998					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGTGGGCAGACGGGAAGGAT	0.622													7	31					0	0	0	0	C	860203	A	C	860203	3	2	389	1	0	0	0	0	1	0	0	0	6244	275	10	5	971	5	GAK	4	860203	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	6795	860203	190294073	91	74776											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306775	2306775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctttctcctgggggtcgGcccaggtactgcctgcccac	3	9	12	17	1	1	0	0	0	1	0	3	0	1	0	5	4	3	1	5	4	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:2306775G>T	ENST00000290974.2	-	8	1631	c.1292C>A	c.(1291-1293)gCc>gAc	p.A431D	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A361D|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A401D	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	431					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTGGGGGTCGGCCCAGGTACT	0.662													28	24					4.59853e-10	5.66539e-10	1	0	T	2306775	G	T	2306775	3	4	389	1	0	0	0	0	1	0	0	0	17765	1203	42	4	1395	4	ZFYVE28	4	2306775	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1446572	2306775	188847501	92	74777											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444285	15444285	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctgcagccagaagatgaAgtctggctggagattttctt	10	13	11	7	0	3	4	0	1	3	3	3	5	3	4	1	2	2	2	1	2	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:15444285A>C	ENST00000295297.4	+	3	1012	c.753A>C	c.(751-753)gaA>gaC	p.E251D	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.E244D|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.E244D	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	244	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CAGAAGATGAAGTCTGGCTGG	0.498													7	77					0	0	0	0	C	15444285	A	C	15444285	3	2	389	1	0	0	0	0	1	0	0	0	1987	69	3	5	763	5	C1QTNF7	4	15444285	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	13137510	15444285	175709991	93	74778											
GBA3	57733	broad.mit.edu	37	chr4	22729133	22729133	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgacagccttcaggtcAcgggccagcttttcagcagt	8	11	10	12	1	3	1	3	1	0	0	3	1	3	1	2	2	4	2	2	2	1	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:22729133A>T	ENST00000508166.1	+	0	160				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	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						CCTTCAGGTCACGGGCCAGCT	0.473													80	115					0	0	0	0	T	22729133	A	T	22729133	1	4	389	0	1	0	0	0	0	0	0	0	6317	174	6	5		5	GBA3	4	22729133	RNA	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	7284848	22729133	168425143	94	74779											
GABRA2	2555	broad.mit.edu	37	chr4	46305523	46305523	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctgttaagccagaatgaAacttgggagagaatgacagt	14	10	11	6	0	1	4	0	2	1	2	2	6	1	5	1	1	2	1	1	1	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:46305523A>C	ENST00000510861.1	-	8	983	c.810T>G	c.(808-810)gtT>gtG	p.V270V	GABRA2_ENST00000381620.4_Silent_p.V270V|GABRA2_ENST00000540012.1_Silent_p.V215V|GABRA2_ENST00000514090.1_Silent_p.V270V|GABRA2_ENST00000356504.1_Silent_p.V270V|GABRA2_ENST00000515082.1_Silent_p.V270V|GABRA2_ENST00000507069.1_Silent_p.V270V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	270					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCAGAATGAAACTTGGGAGA	0.388													5	59					0	0	0	0	C	46305523	A	C	46305523	2	2	389	1	0	0	0	0	0	0	0	1	6209	1	1	5		5	GABRA2	4	46305523	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	23576390	46305523	144848753	95	74780											
GABRB1	2560	broad.mit.edu	37	chr4	47163273	47163273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttatttcacaggattataCactcaccatgtatttccagc	11	15	4	11	0	2	0	2	0	0	0	3	1	3	1	2	1	2	1	2	1	4	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:47163273C>T	ENST00000295454.3	+	4	540	c.248C>T	c.(247-249)aCa>aTa	p.T83I	GABRB1_ENST00000538619.1_Missense_Mutation_p.T13I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	83					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGGATTATACACTCACCATG	0.353													15	53					0	0	0	0	T	47163273	C	T	47163273	3	4	389	1	0	0	0	0	1	0	0	0	6214	478	17	4	262	4	GABRB1	4	47163273	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	857750	47163273	143991003	96	74781											
GABRB1	2560	broad.mit.edu	37	chr4	47427742	47427742	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaaatccggaatgagAcgagtggctcggaagtgctc	10	7	14	10	3	0	1	0	1	0	1	3	6	1	4	2	4	1	2	2	4	3	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:47427742A>T	ENST00000295454.3	+	9	1424	c.1132A>T	c.(1132-1134)Acg>Tcg	p.T378S	GABRB1_ENST00000538619.1_Missense_Mutation_p.T308S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	378					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCGGAATGAGACGAGTGGCTC	0.587													23	45					0	0	0	0	T	47427742	A	T	47427742	3	4	389	1	0	0	0	0	1	0	0	0	6214	275	10	5	1166	5	GABRB1	4	47427742	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	264469	47427742	143726534	97	74782											
PDGFRA	5156	broad.mit.edu	37	chr4	55143615	55143615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacagcctatggattaaGccggtcccaacctgtcatga	12	8	10	11	1	1	1	1	1	0	0	2	3	2	3	4	3	4	0	4	3	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:55143615G>A	ENST00000257290.5	+	13	2178	c.1847G>A	c.(1846-1848)aGc>aAc	p.S616N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S376N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	616	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TATGGATTAAGCCGGTCCCAA	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	95					0	0	0	0	A	55143615	G	A	55143615	3	1	389	1	0	0	0	0	1	0	0	0	11732	971	34	4	1893	4	PDGFRA	4	55143615	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	7715873	55143615	136010661	98	74783											
KIAA1211	57482	broad.mit.edu	37	chr4	57181836	57181836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagttctctattatgcCtgcctggcagaaattttccg	9	14	8	10	1	1	1	0	0	1	1	3	1	2	1	3	1	3	3	3	1	4	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:57181836C>A	ENST00000504228.1	+	6	2273	c.2168C>A	c.(2167-2169)cCt>cAt	p.P723H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P716H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P723H			Q6ZU35	K1211_HUMAN	KIAA1211	723										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCTATTATGCCTGCCTGGCAG	0.562													28	172					1.42536e-11	1.82921e-11	1	0	A	57181836	C	A	57181836	3	1	389	1	0	0	0	0	1	0	0	0	8266	681	24	4	2186	4	KIAA1211	4	57181836	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2038221	57181836	133972440	99	74784											
POLR2B	5431	broad.mit.edu	37	chr4	57856958	57856958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttagacaacagctggattCttttgatgagtttattcaga	11	15	10	5	0	2	4	1	2	1	2	2	5	2	5	0	2	2	3	0	2	3	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:57856958C>G	ENST00000381227.1	+	4	550	c.137C>G	c.(136-138)tCt>tGt	p.S46C	POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Missense_Mutation_p.S46C|POLR2B_ENST00000441246.2_Missense_Mutation_p.S39C			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	46					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II 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|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CAGCTGGATTCTTTTGATGAG	0.398													8	142					0	0	0	0	G	57856958	C	G	57856958	3	3	389	1	0	0	0	0	1	0	0	0	12287	913	32	2	147	2	POLR2B	4	57856958	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	675122	57856958	133297318	100	74785											
EPHA5	2044	broad.mit.edu	37	chr4	66213826	66213826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataagacacaacttcccaCattactattccataactcca	15	10	1	15	0	0	1	0	0	0	1	3	1	3	1	4	0	3	0	4	0	5	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:66213826C>A	ENST00000273854.3	-	15	3204	c.2604G>T	c.(2602-2604)atG>atT	p.M868I	EPHA5_ENST00000354839.4_Missense_Mutation_p.M846I|EPHA5_ENST00000511294.1_Missense_Mutation_p.M869I|EPHA5_ENST00000432638.2_Missense_Mutation_p.M705I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	868	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAACTTCCCACATTACTATTC	0.423										TSP Lung(17;0.13)			31	70					3.80469e-20	5.16991e-20	1	0	A	66213826	C	A	66213826	3	1	389	1	0	0	0	0	1	0	0	0	5208	478	17	4	525	4	EPHA5	4	66213826	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8356868	66213826	124940450	101	74786											
AFP	174	broad.mit.edu	37	chr4	74309071	74309071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctacatctaggcagcaaCagttacaaaagaattaagag	17	8	7	9	0	2	2	0	0	2	2	2	2	2	2	1	1	4	3	1	1	8	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:74309071C>T	ENST00000395792.2	+	6	723	c.623C>T	c.(622-624)aCa>aTa	p.T208I	AFP_ENST00000226359.2_Missense_Mutation_p.T208I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	208	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGGCAGCAACAGTTACAAAA	0.323									Alpha-Fetoprotein, Hereditary Persistence of				12	33					0	0	0	0	T	74309071	C	T	74309071	3	4	389	1	0	0	0	0	1	0	0	0	363	478	17	4	645	4	AFP	4	74309071	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8095245	74309071	116845205	102	74787											
AFM	173	broad.mit.edu	37	chr4	74364895	74364895	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaactggtgtctcttggcGagaaaatggtgacagctttc	11	11	12	7	1	1	3	0	1	1	2	3	4	1	3	0	3	2	1	0	3	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:74364895G>T	ENST00000226355.3	+	11	1447	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	452	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCTCTTGGCGAGAAAATGGT	0.443													30	36					7.26314e-15	9.56003e-15	1	0	T	74364895	G	T	74364895	4	4	389	1	0	0	0	0	0	1	0	0	361	1059	37	3	1396	3	AFM	4	74364895	Nonsense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	55824	74364895	116789381	103	74788											
FRAS1	80144	broad.mit.edu	37	chr4	79359801	79359801	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactctcttaagaatctcAggatctgaggtggaagagct	11	11	12	7	0	3	3	1	1	3	2	5	5	3	5	0	4	2	2	0	4	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:79359801A>C	ENST00000264895.6	+	39	5735	c.5295A>C	c.(5293-5295)tcA>tcC	p.S1765S	FRAS1_ENST00000325942.6_Silent_p.S1765S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1764					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TAagaatctcaggatctgagg	0.398													4	17					0	0	0	0	C	79359801	A	C	79359801	2	2	389	1	0	0	0	0	0	0	0	1	6089	175	7	5		5	FRAS1	4	79359801	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	4994906	79359801	111794475	104	74789											
HERC6	55008	broad.mit.edu	37	chr4	89317238	89317238	+	Missense_Mutation	SNP	A	A	C																															agccccactcctgagaagagAggtccacaacttgtggaaag																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:89317238A>C	ENST00000380265.5	+	6	1014	c.831A>C	c.(829-831)agA>agC	p.R277S	HERC6_ENST00000273960.3_Missense_Mutation_p.R277S|HERC6_ENST00000264346.7_Missense_Mutation_p.R277S	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	277					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTGAGAAGAGAGGTCCACAAC	0.433													28	22					0	0	0	0	C	89317238	A	C	89317238	3	2	389	1	0	0	0	0	1	0	0	0	7112	301	11	5	650	5	HERC6	4	89317238	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	9957437	89317238	101837038	105	74790	1008	2									
HERC6	55008	broad.mit.edu	37	chr4	89317239	89317239	+	Missense_Mutation	SNP	G	G	T																															gccccactcctgagaagagaGgtccacaacttgtggaaaga																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:89317239G>T	ENST00000380265.5	+	6	1015	c.832G>T	c.(832-834)Ggt>Tgt	p.G278C	HERC6_ENST00000273960.3_Missense_Mutation_p.G278C|HERC6_ENST00000264346.7_Missense_Mutation_p.G278C	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TGAGAAGAGAGGTCCACAACT	0.433													29	22					5.77227e-19	7.79763e-19	1	0	T	89317239	G	T	89317239	3	4	389	1	0	0	0	0	1	0	0	0	7112	1000	35	4	651	4	HERC6	4	89317239	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1	89317239	101837037	106	74791	1008	2									
GRID2	2895	broad.mit.edu	37	chr4	94411879	94411879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgttatctcatcttacacgGcaaacctcgctgctttcctc	7	15	5	14	2	2	0	1	0	2	0	6	0	3	0	2	1	3	4	2	1	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:94411879G>A	ENST00000282020.4	+	12	2206	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	GRID2_ENST00000510992.1_Missense_Mutation_p.A555T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	650					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCTTACACGGCAAACCTCGC	0.438													10	52					0	0	0	0	A	94411879	G	A	94411879	3	1	389	1	0	0	0	0	1	0	0	0	6822	1203	42	4	1994	4	GRID2	4	94411879	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	5094640	94411879	96742397	107	74792											
CFI	3426	broad.mit.edu	37	chr4	110667554	110667554	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcattgtagttttcaTggaaaataattctatccacg	11	15	7	8	1	2	0	1	0	1	0	3	1	3	1	2	1	2	3	2	1	5	7	rs121964912		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:110667554T>A	ENST00000394634.2	-	11	1460	c.1253A>T	c.(1252-1254)cAt>cTt	p.H418L	CFI_ENST00000394635.3_Missense_Mutation_p.H426L|CFI_ENST00000512148.1_Missense_Mutation_p.H411L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	418	Peptidase S1.		H -> L (in CFI deficiency).		complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GTAGTTTTCATGGAAAATAAT	0.373													30	14					0	0	0	0	A	110667554	T	A	110667554	3	1	389	1	0	0	0	0	1	0	0	0	3318	1464	51	5	510	5	CFI	4	110667554	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	16255675	110667554	80486722	108	74793											
ENPEP	2028	broad.mit.edu	37	chr4	111464192	111464192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattttcttcagcagatcgtGcaagtcttattgatgatgct	9	16	8	8	1	3	3	1	2	2	1	4	3	3	3	0	0	3	3	0	0	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:111464192G>T	ENST00000265162.5	+	13	2308	c.1966G>T	c.(1966-1968)Gca>Tca	p.A656S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	656					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGCAGATCGTGCAAGTCTTAT	0.323													29	29					1.39806e-14	1.83495e-14	1	0	T	111464192	G	T	111464192	3	4	389	1	0	0	0	0	1	0	0	0	5166	1319	46	4	2016	4	ENPEP	4	111464192	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	796638	111464192	79690084	109	74794											
PCDH10	57575	broad.mit.edu	37	chr4	134084185	134084185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagctctgggccactcaGatcggtgctggatgccttct	7	11	12	11	1	3	1	1	0	2	1	4	2	3	2	2	3	3	3	2	3	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:134084185G>T	ENST00000264360.4	+	4	3677	c.2851G>T	c.(2851-2853)Gat>Tat	p.D951Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	951					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGCCACTCAGATCGGTGCTG	0.488													18	27					2.94398e-08	3.51452e-08	1	0	T	134084185	G	T	134084185	3	4	389	1	0	0	0	0	1	0	0	0	11578	942	33	2	2925	2	PCDH10	4	134084185	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	22619993	134084185	57070091	110	74795											
NR3C2	4306	broad.mit.edu	37	chr4	149035331	149035331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaattgttgggacacttaGttaccatcttcctcagttct	9	15	7	10	0	3	1	1	0	2	1	4	2	4	2	2	1	1	3	2	1	3	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:149035331G>A	ENST00000355292.3	-	8	3097	c.2735C>T	c.(2734-2736)aCt>aTt	p.T912I	NR3C2_ENST00000344721.4_Missense_Mutation_p.T908I|NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000358102.3_Missense_Mutation_p.T908I|NR3C2_ENST00000512865.1_Missense_Mutation_p.T791I|NR3C2_ENST00000511528.1_Missense_Mutation_p.T912I			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	908	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGGACACTTAGTTACCATCTT	0.473													8	14					0	0	0	0	A	149035331	G	A	149035331	3	1	389	1	0	0	0	0	1	0	0	0	10702	1029	36	4	239	4	NR3C2	4	149035331	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	14951146	149035331	42118945	111	74796											
FAM149A	25854	broad.mit.edu	37	chr4	187088146	187088146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaggcatctacaaaacCgtgtgttgagtgccatgcct	11	9	12	9	1	1	1	0	1	1	0	1	3	1	2	3	2	4	2	3	2	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:187088146C>T	ENST00000356371.5	+	12	2062	c.2062C>T	c.(2062-2064)Cgt>Tgt	p.R688C	FAM149A_ENST00000503432.1_Missense_Mutation_p.R397C|FAM149A_ENST00000389354.5_Missense_Mutation_p.R397C|FAM149A_ENST00000514153.1_Missense_Mutation_p.R397C|FAM149A_ENST00000227065.4_Missense_Mutation_p.R397C|FAM149A_ENST00000502970.1_Missense_Mutation_p.R397C			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	688										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCTACAAAACCGTGTGTTGAG	0.443													4	31					0	0	0	0	T	187088146	C	T	187088146	3	4	389	1	0	0	0	0	1	0	0	0	5496	652	23	1	1223	1	FAM149A	4	187088146	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	38052815	187088146	4066130	112	74797											
TRIO	7204	broad.mit.edu	37	chr5	14485341	14485341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaattttagaaaaccagcGcaattttttaaatggtaatg	16	13	6	6	1	0	1	0	0	0	1	0	1	0	1	2	1	2	2	2	1	8	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:14485341G>C	ENST00000344204.4	+	47	6845	c.6821G>C	c.(6820-6822)cGc>cCc	p.R2274P	TRIO_ENST00000537187.1_Missense_Mutation_p.R2274P	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2274					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAAACCAGCGCAATTTTTTA	0.398													14	38					0	0	0	0	C	14485341	G	C	14485341	3	2	389	1	0	0	0	0	1	0	0	0	16647	1087	38	3	7007	3	TRIO	5	14485341	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08		14485341	166429919	113	74798											
MARCH11	441061	broad.mit.edu	37	chr5	16067611	16067611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactctcatcacaacctccCccgagctgttatcttctgat	8	13	4	16	1	5	1	3	1	3	0	7	2	6	1	3	0	2	2	3	0	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:16067611C>G	ENST00000332432.8	-	4	1377	c.1178G>C	c.(1177-1179)gGg>gCg	p.G393A		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	393						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CACAACCTCCCCCGAGCTGTT	0.453													66	118					0	0	0	0	G	16067611	C	G	16067611	3	3	389	1	0	0	0	0	1	0	0	0	9369	623	22	4	34	4	MARCH11	5	16067611	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1582270	16067611	164847649	114	74799											
PRDM9	56979	broad.mit.edu	37	chr5	23522816	23522816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtggacaaggggcaccCcaaccgttcagccctcagtc	9	6	11	15	1	2	0	2	0	0	0	3	1	2	1	4	3	3	3	4	3	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:23522816C>A	ENST00000296682.3	+	8	886	c.704C>A	c.(703-705)cCc>cAc	p.P235H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	235					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGGGGCACCCCAACCGTTCA	0.562										HNSCC(3;0.000094)			20	27					2.94398e-08	3.51452e-08	1	0	A	23522816	C	A	23522816	3	1	389	1	0	0	0	0	1	0	0	0	12543	623	22	4	730	4	PRDM9	5	23522816	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	7455205	23522816	157392444	115	74800											
PRDM9	56979	broad.mit.edu	37	chr5	23527008	23527008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaccagaggacacacacagGggagaagccctatgtctgca	13	5	11	12	0	2	2	1	0	1	2	2	4	2	3	2	3	2	1	2	3	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:23527008G>A	ENST00000296682.3	+	11	1993	c.1811G>A	c.(1810-1812)gGg>gAg	p.G604E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	604					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACACAGGGGAGAAGCCC	0.602										HNSCC(3;0.000094)			16	92					0	0	0	0	A	23527008	G	A	23527008	3	1	389	1	0	0	0	0	1	0	0	0	12543	1232	43	4	1849	4	PRDM9	5	23527008	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4192	23527008	157388252	116	74801											
CDH6	1004	broad.mit.edu	37	chr5	31323320	31323320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtcagtgaccacggatGcagatcaagactatgattac	13	9	11	8	1	2	4	2	2	0	2	2	6	2	6	1	2	2	1	1	2	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:31323320G>T	ENST00000265071.2	+	12	2543	c.2278G>T	c.(2278-2280)Gca>Tca	p.A760S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	760					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						GACCACGGATGCAGATCAAGA	0.532													26	48					5.45024e-15	7.19432e-15	1	0	T	31323320	G	T	31323320	3	4	389	1	0	0	0	0	1	0	0	0	3143	1319	46	4	2320	4	CDH6	5	31323320	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	7796312	31323320	149591940	117	74802											
CEP120	153241	broad.mit.edu	37	chr5	122718431	122718431	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaacatttaaaaagtaacCtgattttcaaatatatcttc	17	15	3	6	0	2	1	1	1	1	0	3	1	2	1	1	0	2	2	1	0	8	9			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:122718431C>A	ENST00000306467.5	-	13	2317	c.2013_splice	c.e13+1	p.Q671_splice	CEP120_ENST00000306481.6_Splice_Site_p.Q645_splice|CEP120_ENST00000328236.5_Splice_Site_p.Q671_splice			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	671						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AAAAAGTAACCTGATTTTCAA	0.363													4	14					0.150653	0.152302	1	0	A	122718431	C	A	122718431	5	1	389	1	0	0	0	0	0	0	1	0	3275	695	24	4	979	4	CEP120	5	122718431	Splice_Site	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	91395111	122718431	58196829	118	74803											
SLC12A2	6558	broad.mit.edu	37	chr5	127507386	127507386	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgacatacaatatggagtAgtggttattcgcctaaaaga	14	13	9	5	1	0	2	0	1	0	1	1	3	0	3	1	2	1	2	1	2	7	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:127507386A>T	ENST00000262461.2	+	19	2940	c.2751A>T	c.(2749-2751)gtA>gtT	p.V917V	SLC12A2_ENST00000343225.4_Silent_p.V917V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	917					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AATATGGAGTAGTGGTTATTC	0.264													7	58					0	0	0	0	T	127507386	A	T	127507386	2	4	389	1	0	0	0	0	0	0	0	1	14471	407	15	5		5	SLC12A2	5	127507386	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	4788955	127507386	53407874	119	74804											
HSPA4	3308	broad.mit.edu	37	chr5	132425293	132425293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaatcatgctgctcctttCtctaaagttcttacatttta	12	17	3	9	0	3	0	1	0	2	0	5	0	4	0	1	0	3	3	1	0	6	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:132425293C>G	ENST00000304858.2	+	11	1573	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	428					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTCCTTTCTCTAAAGTTC	0.388													3	19					0	0	0	0	G	132425293	C	G	132425293	3	3	389	1	0	0	0	0	1	0	0	0	7464	912	32	2	1326	2	HSPA4	5	132425293	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	4917907	132425293	48489967	120	74805											
BRD8	10902	broad.mit.edu	37	chr5	137488417	137488417	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtcattgggatgatcttgTtcagaatccagccaaaccca	12	10	9	10	0	3	2	2	1	1	1	4	4	4	3	3	1	2	1	3	1	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:137488417T>C	ENST00000254900.5	-	21	2981	c.2610A>G	c.(2608-2610)gaA>gaG	p.E870E		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	870					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATGATCTTGTTCAGAATCCA	0.453													18	102					0	0	0	0	C	137488417	T	C	137488417	2	2	389	1	0	0	0	0	0	0	0	1	1514	1722	60	5		5	BRD8	5	137488417	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	5063124	137488417	43426843	121	74806											
PCDHA1	56147	broad.mit.edu	37	chr5	140167837	140167837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctagtgaaggatcaCggtgagccggcgctgacagc	8	7	16	10	3	1	3	1	3	0	0	1	4	1	4	1	4	3	2	1	4	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140167837C>A	ENST00000504120.2	+	1	1962	c.1962C>A	c.(1960-1962)caC>caA	p.H654Q	PCDHA1_ENST00000378133.3_Missense_Mutation_p.H654Q|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGATCACGGTGAGCCGG	0.662													42	33					3.54561e-26	5.00939e-26	1	0	A	140167837	C	A	140167837	3	1	389	1	0	0	0	0	1	0	0	0	11590	535	19	3	1964	3	PCDHA1	5	140167837	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2679420	140167837	40747423	122	74807											
PCDHA4	56144	broad.mit.edu	37	chr5	140188487	140188487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctagcgcctcgggcgggtgGcactggtggcgcagtgagcg	4	6	20	11	5	0	1	0	1	0	0	1	1	0	1	1	5	2	3	1	5	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140188487G>A	ENST00000530339.1	+	1	1715	c.1715G>A	c.(1714-1716)gGc>gAc	p.G572D	PCDHA4_ENST00000356878.4_Missense_Mutation_p.G572D|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G572D|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGGTGGCACTGGTGGC	0.677													5	76					0	0	0	0	A	140188487	G	A	140188487	3	1	389	1	0	0	0	0	1	0	0	0	11597	1203	42	4	1717	4	PCDHA4	5	140188487	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	20650	140188487	40726773	123	74808											
PCDHB11	56125	broad.mit.edu	37	chr5	140580316	140580316	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatcattcaagccacagaTgggggaggactttttggaaa	14	10	11	6	0	2	1	2	0	0	1	2	4	2	4	1	4	1	0	1	4	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140580316T>C	ENST00000354757.3	+	1	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		323	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCCACAGATGGGGGAGGAC	0.363													11	65					0	0	0	0	C	140580316	T	C	140580316	2	2	389	1	0	0	0	0	0	0	0	1	11607	1461	51	5		5	PCDHB11	5	140580316	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	391829	140580316	40334944	124	74809											
PCDHB14	56122	broad.mit.edu	37	chr5	140604265	140604265	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttttcctgaaaccgacCttcaagaactttttcactct	9	16	3	13	1	3	2	2	1	1	1	4	3	4	2	4	0	2	0	4	0	3	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140604265C>A	ENST00000239449.4	+	1	1188	c.1188C>A	c.(1186-1188)acC>acA	p.T396T	PCDHB14_ENST00000515856.2_Silent_p.T243T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		396	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACCGACCTTCAAGAACT	0.453													17	92					1.15088e-07	1.34951e-07	1	0	A	140604265	C	A	140604265	2	1	389	1	0	0	0	0	0	0	0	1	11610	668	24	4		4	PCDHB14	5	140604265	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	23949	140604265	40310995	125	74810											
PCDHB15	56121	broad.mit.edu	37	chr5	140626892	140626892	+	Frame_Shift_Del	DEL	G	G	-																															gtgccccgggcggccgagccGggctacctggtgaccaaggt																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140626892delG	ENST00000231173.3	+	1	1746	c.1746delG	c.(1744-1746)ccfs	p.P582fs		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		582	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P582P(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCGAGCCGGGCTACCTGG	0.706													9	51	---	---	---	---					-	140626892	G	-	140626892	7	5	389	1	0	1	0	1	0	0	0	0	11611	1103	39	0	1748	0	PCDHB15	5	140626892	Frame_Shift_Del	DEL	G	TCGA-DQ-7589-01A-11D-2229-08	22627	140626892	40288368	126	74811											
JAKMIP2	9832	broad.mit.edu	37	chr5	147012302	147012303	+	In_Frame_Ins	INS	-	-	TTG																															tctctggcgtcctgtagttcINSttgttgtaaccggtgatttt																								rs3763095	byFrequency	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:147012302_147012303insTTG	ENST00000265272.5	-	13	2183_2184	c.1716_1717insCAA	c.(1714-1719)caaact>caCAAaact	p.572_572Q>HK	JAKMIP2_ENST00000507386.1_In_Frame_Ins_p.551_551Q>HK|JAKMIP2_ENST00000333010.6_In_Frame_Ins_p.530_530Q>HK	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	572						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTAGTTCTTGTTGTAACC	0.376													14	112	---	---	---	---					TTG	147012303	-	TTG	147012302	7	5	389	1	0	1	1	0	0	0	0	0	7994	922	32	0	751	0	JAKMIP2	5	147012302	In_Frame_Ins	INS	-	TCGA-DQ-7589-01A-11D-2229-08	6385410	147012302	33902958	127	74812											
JAKMIP2	9832	broad.mit.edu	37	chr5	147012314	147012314	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagttcttgttgtaaccGgtgattttctgcctcctgtt	4	19	9	9	1	2	1	0	1	2	0	3	1	3	1	3	1	2	5	3	1	2	8			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:147012314G>T	ENST00000265272.5	-	13	2172	c.1705C>A	c.(1705-1707)Cgg>Agg	p.R569R	JAKMIP2_ENST00000507386.1_Silent_p.R548R|JAKMIP2_ENST00000333010.6_Silent_p.R527R	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	569						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGTAACCGGTGATTTTCT	0.378													15	81					4.7546e-09	5.73532e-09	1	0	T	147012314	G	T	147012314	2	4	389	1	0	0	0	0	0	0	0	1	7994	1115	39	3		3	JAKMIP2	5	147012314	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	12	147012314	33902946	128	74813											
FAT2	2196	broad.mit.edu	37	chr5	150924726	150924726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgggcaccaagaatcaCcagtgcctttctgtcctgca	8	9	9	15	0	2	1	1	0	1	1	3	1	3	1	5	1	2	2	5	1	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:150924726C>G	ENST00000261800.5	-	9	5974	c.5962G>C	c.(5962-5964)Gtg>Ctg	p.V1988L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1988	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGAATCACCAGTGCCTTT	0.448													7	42					0	0	0	0	G	150924726	C	G	150924726	3	3	389	1	0	0	0	0	1	0	0	0	5735	507	18	4	7147	4	FAT2	5	150924726	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	3912412	150924726	29990534	129	74814											
STK10	6793	broad.mit.edu	37	chr5	171520876	171520876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagactggctgggtgccagcGgggtggaaggtgactcctcg	6	7	19	9	2	0	2	0	1	0	1	2	4	1	3	2	6	2	1	2	6	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:171520876G>A	ENST00000176763.5	-	9	1437	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	365							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTGCCAGCGGGGTGGAAGG	0.587													13	48					0	0	0	0	A	171520876	G	A	171520876	3	1	389	1	0	0	0	0	1	0	0	0	15376	1116	39	1	1856	1	STK10	5	171520876	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	20596150	171520876	9394384	130	74815											
MAML1	9794	broad.mit.edu	37	chr5	179201481	179201481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaattctcccaggcagTgcccaacaggcccatggctc	8	6	9	18	1	1	0	0	0	1	0	3	0	1	0	4	3	2	3	4	3	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:179201481T>C	ENST00000292599.3	+	5	2917	c.2654T>C	c.(2653-2655)gTg>gCg	p.V885A	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	885					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCAGGCAGTGCCCAACAGG	0.627													4	43					0	0	0	0	C	179201481	T	C	179201481	3	2	389	1	0	0	0	0	1	0	0	0	9274	1696	59	5	2672	5	MAML1	5	179201481	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	7680605	179201481	1713779	131	74816											
NEDD9	4739	broad.mit.edu	37	chr6	11192580	11192580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtcactcactcacccCttttgtaggcgggatgtcat	7	14	9	11	1	4	0	4	0	0	0	4	1	4	1	2	2	0	2	2	2	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:11192580C>G	ENST00000379446.5	-	4	827	c.661G>C	c.(661-663)Ggg>Cgg	p.G221R	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.G221R	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	221	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TCACTCACCCCTTTTGTAGGC	0.517													11	6					0	0	0	0	G	11192580	C	G	11192580	3	3	389	1	0	0	0	0	1	0	0	0	10383	681	24	4	1859	4	NEDD9	6	11192580	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		11192580	159922487	132	74817											
SLC17A1	6568	broad.mit.edu	37	chr6	25826813	25826813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttattataacattacaaCagtgcacaaggaaagacaat	18	10	6	7	0	0	1	0	0	0	1	0	2	0	2	0	1	4	2	0	1	8	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:25826813C>G	ENST00000244527.4	-	3	198	c.83G>C	c.(82-84)tGt>tCt	p.C28S	SLC17A1_ENST00000427328.1_Missense_Mutation_p.C28S|SLC17A1_ENST00000476801.1_Missense_Mutation_p.C28S|SLC17A1_ENST00000468082.1_Missense_Mutation_p.C28S	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	28					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AACATTACAACAGTGCACAAG	0.433													4	58					0	0	0	0	G	25826813	C	G	25826813	3	3	389	1	0	0	0	0	1	0	0	0	14504	478	17	4	1360	4	SLC17A1	6	25826813	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	14634233	25826813	145288254	133	74818											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27100931	27100931	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccggtctccagttcccCgtgggccgagtgcaccgcct	4	7	14	16	4	1	0	0	0	1	0	3	1	2	0	7	3	1	2	7	3	0	1	rs139431925		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:27100931C>G	ENST00000359193.2	+	1	100	c.81C>G	c.(79-81)ccC>ccG	p.P27P		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	27					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						TCCAGTTCCCCGTGGGCCGAG	0.667													9	49					0	0	0	0	G	27100931	C	G	27100931	2	3	389	1	0	0	0	0	0	0	0	1	7183	639	23	3		3	HIST1H2AG	6	27100931	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1274118	27100931	144014136	134	74819											
PGBD1	84547	broad.mit.edu	37	chr6	28269300	28269300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgctttgatagtgacCaattcctgaatggaaagcct	12	12	10	7	0	0	4	0	4	0	0	1	5	1	5	3	1	2	1	3	1	5	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:28269300C>G	ENST00000405948.2	+	7	2089	c.1669C>G	c.(1669-1671)Caa>Gaa	p.Q557E	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q557E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	557					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGATAGTGACCAATTCCTGAA	0.363													22	61					0	0	0	0	G	28269300	C	G	28269300	3	3	389	1	0	0	0	0	1	0	0	0	11852	595	21	4	1691	4	PGBD1	6	28269300	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1168369	28269300	142845767	135	74820											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333322	28333322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagattcctacatgtgcaGaagctggtgaacaggagggc	11	7	13	10	0	0	3	0	1	0	2	1	4	1	4	2	3	4	2	2	3	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:28333322G>A	ENST00000377255.3	+	7	1174	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.E145K|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E293K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	293					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TACATGTGCAGAAGCTGGTGA	0.517													18	44					0	0	0	0	A	28333322	G	A	28333322	3	1	389	1	0	0	0	0	1	0	0	0	17783	943	33	2	895	2	ZKSCAN3	6	28333322	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	64022	28333322	142781745	136	74821											
GPX6	257202	broad.mit.edu	37	chr6	28474134	28474134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgttcctggttcttgttttCcaaactggttgcagggaaag	7	16	11	7	0	1	0	0	0	1	0	3	1	3	1	2	3	2	5	2	3	2	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:28474134C>G	ENST00000361902.1	-	3	363	c.314G>C	c.(313-315)gGa>gCa	p.G105A	GPX6_ENST00000474923.1_Missense_Mutation_p.G105A|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	105					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTCTTGTTTTCCAAACTGGTT	0.463													4	36					0	0	0	0	G	28474134	C	G	28474134	3	3	389	1	0	0	0	0	1	0	0	0	6794	855	30	2	363	2	GPX6	6	28474134	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	140812	28474134	142640933	137	74822											
MAS1L	116511	broad.mit.edu	37	chr6	29455447	29455447	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcacagccttgggggcaAtgatattcaagggcagggcc	10	6	14	11	0	1	1	1	1	0	0	1	1	1	1	3	4	2	3	3	4	3	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:29455447A>T	ENST00000377127.3	-	1	291	c.233T>A	c.(232-234)aTt>aAt	p.I78N		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	78						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTTGGGGGCAATGATATTCAA	0.517													7	30					0	0	0	0	T	29455447	A	T	29455447	3	4	389	1	0	0	0	0	1	0	0	0	9390	101	4	5	905	5	MAS1L	6	29455447	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	981313	29455447	141659620	138	74823											
C6orf136	221545	broad.mit.edu	37	chr6	30619243	30619243	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaagacgagcattaccGgtaagagagaaatgagaaag	19	5	12	5	2	0	5	0	2	0	4	0	8	0	5	1	1	2	2	1	1	5	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:30619243G>A	ENST00000293604.6	+	4	1500	c.1307_splice	c.e4+1	p.R436_splice	C6orf136_ENST00000376471.4_Splice_Site_p.R121_splice|C6orf136_ENST00000376473.5_Splice_Site_p.R255_splice|C6orf136_ENST00000528347.2_Splice_Site_p.R112_splice	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	255								p.R112Q(1)|p.R436Q(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAGCATTACCGGTAAGAGAGA	0.502													4	145					0	0	0	0	A	30619243	G	A	30619243	5	1	389	1	0	0	0	0	0	0	1	0	2352	1130	39	1	1321	1	C6orf136	6	30619243	Splice_Site	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1163796	30619243	140495824	139	74824											
DLK2	65989	broad.mit.edu	37	chr6	43418549	43418549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctcttgcctccgcaccaCctccttcactgagatccgca	7	9	6	19	2	2	1	1	1	1	1	5	2	5	1	7	0	2	2	7	0	0	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:43418549C>G	ENST00000357338.3	-	6	1580	c.880G>C	c.(880-882)Gtg>Ctg	p.V294L	DLK2_ENST00000372488.3_Missense_Mutation_p.V294L|DLK2_ENST00000372485.1_Missense_Mutation_p.V288L|DLK2_ENST00000414245.1_Missense_Mutation_p.V288L	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	294						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTCCGCACCACCTCCTTCACT	0.657													48	115					0	0	0	0	G	43418549	C	G	43418549	3	3	389	1	0	0	0	0	1	0	0	0	4602	507	18	4	275	4	DLK2	6	43418549	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	12799306	43418549	127696518	140	74825											
ENPP4	22875	broad.mit.edu	37	chr6	46108910	46108910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaattcagcccattattttGgttgccgatgaaggctggac	9	12	11	9	2	1	1	1	1	0	0	1	4	1	2	2	3	2	2	2	3	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:46108910G>T	ENST00000321037.4	+	3	1178	c.948G>T	c.(946-948)ttG>ttT	p.L316F		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	316						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCATTATTTTGGTTGCCGATG	0.333													4	32					1	1	1	0	T	46108910	G	T	46108910	3	4	389	1	0	0	0	0	1	0	0	0	5170	1339	47	4	954	4	ENPP4	6	46108910	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2690361	46108910	125006157	141	74826											
GPR116	221395	broad.mit.edu	37	chr6	46826148	46826148	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttggtgtcctcccagttGagccaacagacattcttcct	7	12	8	14	0	1	2	0	1	1	1	4	2	4	2	5	1	2	1	5	1	1	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:46826148G>C	ENST00000283296.7	-	17	3780	c.3492C>G	c.(3490-3492)ctC>ctG	p.L1164L	GPR116_ENST00000456426.2_Silent_p.L1022L|GPR116_ENST00000545669.1_Silent_p.L593L|GPR116_ENST00000362015.4_Silent_p.L1164L|GPR116_ENST00000265417.7_Silent_p.L1164L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTCCCAGTTGAGCCAACAGA	0.552													8	36					0	0	0	0	C	46826148	G	C	46826148	2	2	389	1	0	0	0	0	0	0	0	1	6682	1277	45	2		2	GPR116	6	46826148	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	717238	46826148	124288919	142	74827											
RHAG	6005	broad.mit.edu	37	chr6	49587000	49587000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggttgatacccacactgCtgaagccatatttcttcagg	10	12	9	10	0	2	2	1	2	1	0	2	2	2	2	2	2	3	3	2	2	4	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:49587000C>A	ENST00000371175.4	-	2	259	c.233G>T	c.(232-234)aGc>aTc	p.S78I	RHAG_ENST00000229810.7_Missense_Mutation_p.S78I	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	78					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ACCCACACTGCTGAAGCCATA	0.438													16	28					6.72482e-11	8.44258e-11	1	0	A	49587000	C	A	49587000	3	1	389	1	0	0	0	0	1	0	0	0	13398	797	28	4	1032	4	RHAG	6	49587000	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2760852	49587000	121528067	143	74828											
PKHD1	5314	broad.mit.edu	37	chr6	51923189	51923189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaggtaagtggtgaccaCatcaggattcagccaggtgt	10	9	13	9	1	2	1	2	1	0	0	2	2	2	2	3	4	1	2	3	4	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:51923189C>T	ENST00000371117.3	-	16	1719	c.1444G>A	c.(1444-1446)Gtg>Atg	p.V482M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V482M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	482					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGGTGACCACATCAGGATTC	0.547													38	65					0	0	0	0	T	51923189	C	T	51923189	3	4	389	1	0	0	0	0	1	0	0	0	12043	478	17	4	11027	4	PKHD1	6	51923189	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2336189	51923189	119191878	144	74829											
KHDRBS2	202559	broad.mit.edu	37	chr6	62390923	62390923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggctgacctttgcggtGgtgccttcaagctagagcgg	5	11	14	11	2	2	2	1	1	1	1	2	2	2	2	2	4	4	2	2	4	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:62390923G>T	ENST00000281156.4	-	9	1273	c.995C>A	c.(994-996)cCa>cAa	p.P332Q	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTTTGCGGTGGTGCCTTCAA	0.483													5	23					0.00116845	0.00124383	1	0	T	62390923	G	T	62390923	3	4	389	1	0	0	0	0	1	0	0	0	8198	1348	47	4	58	4	KHDRBS2	6	62390923	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	10467734	62390923	108724144	145	74830											
IMPG1	3617	broad.mit.edu	37	chr6	76751702	76751702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgggaaaaatgcggatCtttttgttcgatgctttgcc	7	15	11	8	3	1	0	0	0	1	0	2	3	1	2	2	2	3	3	2	2	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:76751702C>A	ENST00000369950.3	-	2	398	c.209G>T	c.(208-210)aGa>aTa	p.R70I	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	70					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAATGCGGATCTTTTTGTTCG	0.373													23	34					3.62473e-10	4.47761e-10	1	0	A	76751702	C	A	76751702	3	1	389	1	0	0	0	0	1	0	0	0	7781	913	32	2	2248	2	IMPG1	6	76751702	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	14360779	76751702	94363365	146	74831											
TBX18	9096	broad.mit.edu	37	chr6	85446744	85446744	+	Frame_Shift_Del	DEL	G	G	-																															tggcatgatatactggagctGgggggacattcccgaaatct																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:85446744delG	ENST00000369663.5	-	8	1820	c.1483delC	c.(1483-1485)agfs	p.Q495fs	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	495					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACTGGAGCTGGGGGGACATT	0.537													40	100	---	---	---	---					-	85446744	G	-	85446744	7	5	389	1	0	1	0	1	0	0	0	0	15747	1357	47	0	344	0	TBX18	6	85446744	Frame_Shift_Del	DEL	G	TCGA-DQ-7589-01A-11D-2229-08	8695042	85446744	85668323	147	74832											
SOBP	55084	broad.mit.edu	37	chr6	107955647	107955647	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccccgtgatcgtgcccctAccggtgcccatccccatccc	5	8	7	21	3	0	1	0	1	0	0	3	1	2	1	9	1	4	0	9	1	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:107955647A>T	ENST00000317357.5	+	6	2258	c.1599A>T	c.(1597-1599)ctA>ctT	p.L533L		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	533	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCGTGCCCCTACCGGTGCCCA	0.667													15	20					0	0	0	0	T	107955647	A	T	107955647	2	4	389	1	0	0	0	0	0	0	0	1	15000	378	14	5		5	SOBP	6	107955647	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	22508903	107955647	63159420	148	74833											
NR2E1	7101	broad.mit.edu	37	chr6	108501525	108501525	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacatctattgtatgacAgctgatgcttttggaagatg	11	16	9	5	0	1	3	0	2	1	1	1	4	1	4	0	1	3	3	0	1	5	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:108501525A>G	ENST00000368986.4	+	6	1350		c.e6-1		NR2E1_ENST00000368983.3_Splice_Site	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ATTGTATGACAGCTGATGCTT	0.313													9	50					0	0	0	0	G	108501525	A	G	108501525	5	3	389	1	0	0	0	0	0	0	1	0	10696	202	7	5	663	5	NR2E1	6	108501525	Splice_Site	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	545878	108501525	62613542	149	74834											
REV3L	5980	broad.mit.edu	37	chr6	111714134	111714134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcaagagaatttcctgAtaaatgattcttgcaggatc	14	12	8	7	0	2	3	1	2	1	1	4	5	3	4	1	1	2	2	1	1	4	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:111714134A>G	ENST00000435970.1	-	7	1189	c.373T>C	c.(373-375)Tca>Cca	p.S125P	REV3L_ENST00000368805.1_Missense_Mutation_p.S203P|REV3L_ENST00000358835.3_Missense_Mutation_p.S203P|REV3L_ENST00000368802.3_Missense_Mutation_p.S203P			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	203					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GAATTTCCTGATAAATGATTC	0.294								DNA polymerases (catalytic subunits)					13	12					0	0	0	0	G	111714134	A	G	111714134	3	3	389	1	0	0	0	0	1	0	0	0	13322	333	12	5	8897	5	REV3L	6	111714134	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	3212609	111714134	59400933	150	74835											
LAMA2	3908	broad.mit.edu	37	chr6	129712724	129712724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaagggcttcagaaagaGattgaccagatgattaaaga	16	9	12	4	0	1	6	1	2	0	4	1	8	1	7	1	2	0	1	1	2	4	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:129712724G>C	ENST00000421865.2	+	36	5209	c.5160G>C	c.(5158-5160)gaG>gaC	p.E1720D		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1720	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCAGAAAGAGATTGACCAGA	0.378													4	77					0	0	0	0	C	129712724	G	C	129712724	3	2	389	1	0	0	0	0	1	0	0	0	8659	933	33	2	5302	2	LAMA2	6	129712724	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	17998590	129712724	41402343	151	74836											
HIVEP2	3097	broad.mit.edu	37	chr6	143090889	143090889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccgaggatttgaaggtggCctgttgcacataattgggtt	10	12	13	6	1	0	1	0	1	0	0	0	3	0	2	2	4	2	3	2	4	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:143090889C>T	ENST00000367603.2	-	5	5729	c.4987G>A	c.(4987-4989)Gcc>Acc	p.A1663T	HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1663T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1663T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTGAAGGTGGCCTGTTGCACA	0.463													37	39					0	0	0	0	T	143090889	C	T	143090889	3	4	389	1	0	0	0	0	1	0	0	0	7237	739	26	4	2377	4	HIVEP2	6	143090889	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	13378165	143090889	28024178	152	74837											
UTRN	7402	broad.mit.edu	37	chr6	145142116	145142116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctcgacttggttacctGcctgtccagacagttcttga	7	12	8	14	1	1	2	0	1	1	1	3	3	2	2	4	1	2	2	4	1	1	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:145142116G>A	ENST00000367545.3	+	65	9456	c.9456G>A	c.(9454-9456)ctG>ctA	p.L3152L	UTRN_ENST00000367526.4_Silent_p.L707L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3152	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTGGTTACCTGCCTGTCCAGA	0.378													32	22					0	0	0	0	A	145142116	G	A	145142116	2	1	389	1	0	0	0	0	0	0	0	1	17199	1306	46	4		4	UTRN	6	145142116	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2051227	145142116	25972951	153	74838											
ESR1	2099	broad.mit.edu	37	chr6	152265640	152265640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaactgggcgaagagggtgCcaggtaagaatgcgaagcgc	12	5	16	8	3	1	2	1	0	0	2	1	4	1	2	1	3	4	1	1	3	5	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:152265640C>A	ENST00000440973.1	+	6	1463	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	ESR1_ENST00000443427.1_Missense_Mutation_p.P365T|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000544394.1_Missense_Mutation_p.P192T|ESR1_ENST00000206249.3_Missense_Mutation_p.P365T|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000338799.5_Missense_Mutation_p.P365T|ESR1_ENST00000456483.2_Intron	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	365	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GAAGAGGGTGCCAGGTAAGAA	0.473													5	44					3.59834e-05	3.96762e-05	1	0	A	152265640	C	A	152265640	3	1	389	1	0	0	0	0	1	0	0	0	5294	739	26	4	1107	4	ESR1	6	152265640	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	7123524	152265640	18849427	154	74839											
SYNE1	23345	broad.mit.edu	37	chr6	152510431	152510431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgcagaagctctacgcGttcattaagaatggagatat	12	12	9	8	2	2	3	1	0	1	3	2	4	2	3	1	1	3	3	1	1	5	5	rs138747167	by1000genomes	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:152510431G>A	ENST00000367255.5	-	128	23858	c.23257C>T	c.(23257-23259)Cgc>Tgc	p.R7753C	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2277C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7682C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7365C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7682C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7753C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7753					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R7753C(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCTACGCGTTCATTAAGA	0.443										HNSCC(10;0.0054)			6	72					0	0	0	0	A	152510431	G	A	152510431	3	1	389	1	0	0	0	0	1	0	0	0	15536	1145	40	1	3285	1	SYNE1	6	152510431	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	244791	152510431	18604636	155	74840											
SYNE1	23345	broad.mit.edu	37	chr6	152702370	152702370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgcttccagtcggcaCgcagggcctgcatctccgtg	5	8	11	17	3	1	0	0	0	1	0	4	0	2	0	4	2	2	4	4	2	0	1	rs148998248	by1000genomes	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:152702370C>A	ENST00000367255.5	-	56	9381	c.8780G>T	c.(8779-8781)cGt>cTt	p.R2927L	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.R2934L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R2966L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R2934L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R2927L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2927					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGTCGGCACGCAGGGCCTG	0.577										HNSCC(10;0.0054)			8	69					0.000157383	0.000171085	1	0	A	152702370	C	A	152702370	3	1	389	1	0	0	0	0	1	0	0	0	15536	536	19	3	18050	3	SYNE1	6	152702370	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	191939	152702370	18412697	156	74841											
OPRM1	4988	broad.mit.edu	37	chr6	154412611	154412611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagaactaatcatcaggtaCgcagtctctagaattaggta	15	11	8	7	1	3	2	2	0	1	2	4	2	3	2	0	2	2	3	0	2	8	6	rs79668187		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:154412611C>T	ENST00000428397.2	+	3	1364	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000229768.5_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000360422.4_Intron	NM_001008504.2	NP_001008504.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	390					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.?(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCATCAGGTACGCAGTCTCTA	0.408													8	30					0	0	0	0	T	154412611	C	T	154412611	3	4	389	1	0	0	0	0	1	0	0	0	10958	536	19	1	1512	1	OPRM1	6	154412611	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1710241	154412611	16702456	157	74842											
SNX9	51429	broad.mit.edu	37	chr6	158359775	158359775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcatgtcttacgcgttGcaaggtaagatgaaagggtc	12	10	12	7	2	2	2	1	1	1	1	3	2	2	2	0	2	3	4	0	2	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:158359775G>A	ENST00000392185.3	+	16	1815	c.1644G>A	c.(1642-1644)ttG>ttA	p.L548L		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	548	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTTACGCGTTGCAAGGTAAGA	0.413													61	95					0	0	0	0	A	158359775	G	A	158359775	2	1	389	1	0	0	0	0	0	0	0	1	14997	1310	46	4		4	SNX9	6	158359775	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	3947164	158359775	12755292	158	74843											
GPR31	2853	broad.mit.edu	37	chr6	167571094	167571094	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgccaagcctggaggcTcaggtagaaggcggccagga	11	4	16	10	1	1	2	1	0	0	2	1	4	1	4	3	6	2	2	3	6	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:167571094T>A	ENST00000366834.1	-	1	723	c.226A>T	c.(226-228)Agc>Tgc	p.S76C		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	76						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GCCTGGAGGCTCAGGTAGAAG	0.677													6	28					0	0	0	0	A	167571094	T	A	167571094	3	1	389	1	0	0	0	0	1	0	0	0	6736	1551	54	5	736	5	GPR31	6	167571094	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	9211319	167571094	3543973	159	74844											
PMS2	5395	broad.mit.edu	37	chr7	6027040	6027040	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtgctagaagacagcatAccccttttctgtcctagagg	11	10	10	10	0	1	3	0	0	1	3	2	4	2	3	3	1	3	2	3	1	5	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:6027040A>G	ENST00000265849.7	-	11	1461	c.1356T>C	c.(1354-1356)ggT>ggC	p.G452G	PMS2_ENST00000406569.3_Silent_p.G452G|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.G346G	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	452					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AAGACAGCATACCCCTTTTCT	0.537			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	85					0	0	0	0	G	6027040	A	G	6027040	2	3	389	1	0	0	0	0	0	0	0	1	12215	378	14	5		5	PMS2	7	6027040	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08		6027040	153111623	160	74845											
ICA1	3382	broad.mit.edu	37	chr7	8167669	8167669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccactctttgctgaactcGccctcttccaaggaggaagc	8	9	9	15	1	2	1	0	1	2	0	4	3	3	3	3	2	3	1	3	2	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:8167669G>A	ENST00000402384.3	-	13	1430	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	ICA1_ENST00000422063.2_Silent_p.G417G|ICA1_ENST00000406470.2_Silent_p.G388G|ICA1_ENST00000265577.7_Silent_p.G387G|ICA1_ENST00000401396.1_Silent_p.G376G|ICA1_ENST00000396675.3_Silent_p.G388G			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	388					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGCTGAACTCGCCCTCTTCCA	0.597													16	171					0	0	0	0	A	8167669	G	A	8167669	2	1	389	1	0	0	0	0	0	0	0	1	7530	1074	38	1		1	ICA1	7	8167669	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2140629	8167669	150970994	161	74846											
ABCB5	340273	broad.mit.edu	37	chr7	20721230	20721230	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaatgctggcggagaaaGgagcacatgctgaactaatg	14	7	14	6	1	0	2	0	1	0	1	0	5	0	4	0	4	4	3	0	4	4	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:20721230G>T	ENST00000404938.2	+	15	2462	c.1810G>T	c.(1810-1812)Gga>Tga	p.G604*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.G159*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	159	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGCGGAGAAAGGAGCACATGC	0.433													11	77					1.58986e-06	1.80916e-06	1	0	T	20721230	G	T	20721230	4	4	389	1	0	0	0	0	0	1	0	0	44	1001	35	4	1905	4	ABCB5	7	20721230	Nonsense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	12553561	20721230	138417433	162	74847											
RAPGEF5	9771	broad.mit.edu	37	chr7	22233539	22233539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaactctcacctccaaTggctctccgcactcccagct	9	8	7	17	1	2	0	1	0	2	0	6	1	4	1	4	2	2	3	4	2	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:22233539T>A	ENST00000344041.6	-	10	962	c.650A>T	c.(649-651)cAt>cTt	p.H217L	RAPGEF5_ENST00000405243.1_Missense_Mutation_p.H370L|RAPGEF5_ENST00000475788.1_5'UTR	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCACCTCCAATGGCTCTCCGC	0.597													54	171					0	0	0	0	A	22233539	T	A	22233539	3	1	389	1	0	0	0	0	1	0	0	0	13129	1464	51	5	1610	5	RAPGEF5	7	22233539	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	1512309	22233539	136905124	163	74848											
CBX3	11335	broad.mit.edu	37	chr7	26245992	26245992	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgttttattttagcaaaAaatgggaaaaaaacagaatg	18	14	7	2	0	0	1	0	0	0	1	0	2	0	2	0	1	2	2	0	1	9	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:26245992A>C	ENST00000337620.4	+	3	457	c.29A>C	c.(28-30)aAa>aCa	p.K10T	CBX3_ENST00000409747.1_Missense_Mutation_p.K10T|CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Missense_Mutation_p.K10T	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	10					chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTTTAGCAAAAAATGGGAAAA	0.323													6	24					0	0	0	0	C	26245992	A	C	26245992	3	2	389	1	0	0	0	0	1	0	0	0	2744	14	1	5	35	5	CBX3	7	26245992	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	4012453	26245992	132892671	164	74849											
GHRHR	2692	broad.mit.edu	37	chr7	31013712	31013712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggcctccacctcccccaGctcaaggagagccttctggt	6	8	9	18	0	2	1	1	0	1	1	4	2	4	1	7	3	2	1	7	3	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:31013712G>T	ENST00000409904.3	+	4	776	c.518G>T	c.(517-519)aGc>aTc	p.S173I	GHRHR_ENST00000326139.2_Missense_Mutation_p.S237I|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	237					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACCTCCCCCAGCTCAAGGAGA	0.637													54	32					3.89483e-19	5.27686e-19	1	0	T	31013712	G	T	31013712	3	4	389	1	0	0	0	0	1	0	0	0	6424	971	34	4	736	4	GHRHR	7	31013712	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4767720	31013712	128124951	165	74850											
ELMO1	9844	broad.mit.edu	37	chr7	37262253	37262253	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagccttcaggaaaagCgcattaatcactgcaatagt	14	9	9	9	1	3	0	3	0	0	0	3	2	3	2	1	2	3	2	1	2	5	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:37262253C>G	ENST00000310758.4	-	10	1394	c.747G>C	c.(745-747)gcG>gcC	p.A249A	ELMO1_ENST00000442504.1_Silent_p.A249A|ELMO1_ENST00000448602.1_Silent_p.A249A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	249					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCAGGAAAAGCGCATTAATCA	0.423													5	85					0	0	0	0	G	37262253	C	G	37262253	2	3	389	1	0	0	0	0	0	0	0	1	5103	755	27	3		3	ELMO1	7	37262253	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	6248541	37262253	121876410	166	74851											
SFRP4	6424	broad.mit.edu	37	chr7	37955884	37955884	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgcaggaactccagggTgcaaatgggcgcgtacatgg	9	7	16	9	3	0	0	0	0	0	0	2	1	1	1	1	4	4	3	1	4	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:37955884T>A	ENST00000436072.2	-	1	633	c.256A>T	c.(256-258)Acc>Tcc	p.T86S	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	86	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AACTCCAGGGTGCAAATGGGC	0.617													11	55					0	0	0	0	A	37955884	T	A	37955884	3	1	389	1	0	0	0	0	1	0	0	0	14250	1696	59	5	808	5	SFRP4	7	37955884	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	693631	37955884	121182779	167	74852											
WBSCR17	64409	broad.mit.edu	37	chr7	70800594	70800594	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggggtaaagggggcctTccggctactctttccccggc	4	8	16	13	3	1	0	0	0	1	0	3	0	3	0	4	7	1	2	4	7	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:70800594T>C	ENST00000333538.5	+	2	931	c.297T>C	c.(295-297)ctT>ctC	p.L99L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	99						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGGGGCCTTCCGGCTACTC	0.458													22	42					0	0	0	0	C	70800594	T	C	70800594	2	2	389	1	0	0	0	0	0	0	0	1	17360	1770	62	5		5	WBSCR17	7	70800594	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	32844710	70800594	88338069	168	74853											
HGF	3082	broad.mit.edu	37	chr7	81335648	81335648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatccttcagggccatatAccagctgggaaacattgaga	12	9	10	10	0	1	2	1	2	0	1	2	4	2	3	3	2	3	1	3	2	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:81335648A>G	ENST00000222390.5	-	15	1938	c.1712T>C	c.(1711-1713)gTa>gCa	p.V571A	HGF_ENST00000457544.2_Missense_Mutation_p.V566A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	571	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGGGCCATATACCAGCTGGGA	0.403													4	56					0	0	0	0	G	81335648	A	G	81335648	3	3	389	1	0	0	0	0	1	0	0	0	7135	391	14	5	490	5	HGF	7	81335648	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	10535054	81335648	77803015	169	74854											
SEMA3E	9723	broad.mit.edu	37	chr7	82997282	82997282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggcaaaaataggtccCagcatctgatttgtgtaacc	11	12	9	9	0	2	1	0	1	2	0	3	1	3	1	2	2	2	3	2	2	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:82997282C>A	ENST00000307792.3	-	17	2415	c.1948G>T	c.(1948-1950)Ggg>Tgg	p.G650W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G590W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	650	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATAGGTCCCAGCATCTGAT	0.418													35	76					3.21399e-22	4.43243e-22	1	0	A	82997282	C	A	82997282	3	1	389	1	0	0	0	0	1	0	0	0	14115	594	21	4	383	4	SEMA3E	7	82997282	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1661634	82997282	76141381	170	74855											
SEMA3A	10371	broad.mit.edu	37	chr7	83590818	83590818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgccgacgttgttttcggtCccttttccaaacttgttcac	5	17	7	12	3	1	0	1	0	0	0	4	1	3	0	3	1	2	3	3	1	1	8			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:83590818C>T	ENST00000265362.3	-	17	2499	c.2185G>A	c.(2185-2187)Gac>Aac	p.D729N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D729N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	729	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity	p.D729Y(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGTTTTCGGTCCCTTTTCCAA	0.468													7	113					0	0	0	0	T	83590818	C	T	83590818	3	4	389	1	0	0	0	0	1	0	0	0	14111	855	30	2	134	2	SEMA3A	7	83590818	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	593536	83590818	75547845	171	74856											
ZNF804B	219578	broad.mit.edu	37	chr7	88965792	88965792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctacagctacaagccCagcagcatatgcagaagcaa	16	5	8	12	0	0	2	0	0	0	2	1	2	1	2	2	0	8	5	2	0	6	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:88965792C>A	ENST00000333190.4	+	4	4105	c.3496C>A	c.(3496-3498)Cag>Aag	p.Q1166K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1166						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCTACAAGCCCAGCAGCATAT	0.448										HNSCC(36;0.09)			30	55					2.12542e-12	2.75054e-12	1	0	A	88965792	C	A	88965792	3	1	389	1	0	0	0	0	1	0	0	0	18264	595	21	4	3510	4	ZNF804B	7	88965792	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	5374974	88965792	70172871	172	74857											
STEAP2	261729	broad.mit.edu	37	chr7	89856732	89856732	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactaagttttttcttcgctAtggtccatgttgcctacagc	7	17	7	10	1	1	0	0	0	1	0	3	0	2	0	2	1	4	3	2	1	4	9			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:89856732A>C	ENST00000287908.3	+	3	1333	c.940A>C	c.(940-942)Atg>Ctg	p.M314L	STEAP2_ENST00000394632.1_Missense_Mutation_p.M314L|STEAP2_ENST00000402625.2_Missense_Mutation_p.M314L|STEAP2_ENST00000394629.2_Missense_Mutation_p.M314L|STEAP2_ENST00000394621.2_Missense_Mutation_p.M314L|STEAP2_ENST00000394626.1_Missense_Mutation_p.M314L|STEAP2_ENST00000394622.2_Missense_Mutation_p.M314L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	314	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTTCTTCGCTATGGTCCATGT	0.413													5	65					0	0	0	0	C	89856732	A	C	89856732	3	2	389	1	0	0	0	0	1	0	0	0	15368	449	16	5	946	5	STEAP2	7	89856732	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	890940	89856732	69281931	173	74858											
C7orf63	79846	broad.mit.edu	37	chr7	89887457	89887457	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttgtcaagaaactggtaCagtgttatcagaatggactt	14	13	9	5	0	2	2	2	0	0	2	2	3	2	3	0	2	2	2	0	2	6	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:89887457C>T	ENST00000389297.4	+	3	477	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	C7orf63_ENST00000316089.8_Nonsense_Mutation_p.Q76*|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.Q76*|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	76							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GAAACTGGTACAGTGTTATCA	0.284													17	15					0	0	0	0	T	89887457	C	T	89887457	4	4	389	1	0	0	0	0	0	1	0	0	2432	479	17	4	236	4	C7orf63	7	89887457	Nonsense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	30725	89887457	69251206	174	74859											
PON1	5444	broad.mit.edu	37	chr7	94944721	94944721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccaattccaacactgttgGatcttcttcattcaggtcca	9	13	5	14	0	4	0	2	0	2	0	6	1	6	1	4	2	1	1	4	2	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:94944721G>T	ENST00000222381.3	-	4	514	c.283C>A	c.(283-285)Cca>Aca	p.P95T	PON1_ENST00000542556.1_Missense_Mutation_p.P95T	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	95					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AACACTGTTGGATCTTCTTCA	0.383													6	46					0.0293803	0.0300969	1	0	T	94944721	G	T	94944721	3	4	389	1	0	0	0	0	1	0	0	0	12320	1174	41	2	808	2	PON1	7	94944721	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	5057264	94944721	64193942	175	74860											
LRCH4	4034	broad.mit.edu	37	chr7	100174757	100174757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccctcccacaacagccCtgagccctggcttcaagagg	8	5	10	18	1	1	2	1	1	0	1	2	2	2	2	5	3	3	1	5	3	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:100174757C>A	ENST00000310300.6	-	12	1368	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	LRCH4_ENST00000497245.1_De_novo_Start_InFrame	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	439					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAACAGCCCTGAGCCCTGG	0.632													7	62					2.0095e-06	2.28105e-06	1	0	A	100174757	C	A	100174757	3	1	389	1	0	0	0	0	1	0	0	0	8999	681	24	4	763	4	LRCH4	7	100174757	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	5230036	100174757	58963906	176	74861											
SLC12A9	56996	broad.mit.edu	37	chr7	100459152	100459152	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgccctgctcaccgcGcgaggaggccccagtagctg	5	6	14	16	3	1	0	1	0	0	0	1	2	1	1	4	3	3	4	4	3	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:100459152G>T	ENST00000354161.3	+	11	1607	c.1482G>T	c.(1480-1482)gcG>gcT	p.A494A	SLC12A9_ENST00000428758.1_Silent_p.A494A|SLC12A9_ENST00000415287.1_Silent_p.A405A|SLC12A9_ENST00000275729.3_Silent_p.A405A|SLC12A9_ENST00000540482.1_Silent_p.A494A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	494						integral to membrane|plasma membrane	cation:chloride symporter activity	p.A494A(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)					TGCTCACCGCGCGAGGAGGCC	0.652													40	43					2.87052e-16	3.81086e-16	1	0	T	100459152	G	T	100459152	2	4	389	1	0	0	0	0	0	0	0	1	14478	1074	38	3		3	SLC12A9	7	100459152	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	284395	100459152	58679511	177	74862											
MUC17	140453	broad.mit.edu	37	chr7	100679619	100679619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacctgtcagcaccaCgccggtggccagtcctgagg	9	7	12	13	2	1	1	1	1	0	0	2	1	2	1	5	3	2	2	5	3	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:100679619C>A	ENST00000306151.4	+	3	4986	c.4922C>A	c.(4921-4923)aCg>aAg	p.T1641K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1641	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCACGCCGGTGGCC	0.488													5	487					0.184627	0.185834	1	0	A	100679619	C	A	100679619	3	1	389	1	0	0	0	0	1	0	0	0	10044	536	19	3	4932	3	MUC17	7	100679619	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	220467	100679619	58459044	178	74863											
LRRC17	10234	broad.mit.edu	37	chr7	102580025	102580025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaatggcattgaattcatCgatcctggtaagttcccctg	10	12	9	10	1	1	1	1	1	0	0	4	2	3	1	3	2	1	4	3	2	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:102580025C>T	ENST00000249377.4	+	3	1202	c.921C>T	c.(919-921)atC>atT	p.I307I	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Silent_p.I307I|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	307					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTGAATTCATCGATCCTGGTA	0.373													6	124					0	0	0	0	T	102580025	C	T	102580025	2	4	389	1	0	0	0	0	0	0	0	1	9037	874	31	1		1	LRRC17	7	102580025	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1900406	102580025	56558638	179	74864											
SLC26A5	375611	broad.mit.edu	37	chr7	103018200	103018200	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatattttacttcaccaTcctcttcttcaggcttggta	7	16	8	10	0	4	0	2	0	2	0	5	1	5	1	2	4	1	2	2	4	3	8			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:103018200T>A	ENST00000306312.3	-	18	2093	c.1832A>T	c.(1831-1833)gAt>gTt	p.D611V	SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.D44V|SLC26A5_ENST00000339444.6_Missense_Mutation_p.D611V|SLC26A5_ENST00000393723.1_Missense_Mutation_p.D581V|SLC26A5_ENST00000393727.1_Missense_Mutation_p.D613V|SLC26A5_ENST00000393729.1_Missense_Mutation_p.D574V|SLC26A5_ENST00000393730.1_Missense_Mutation_p.D579V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.D579V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	611	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TACTTCACCATCCTCTTCTTC	0.408													31	56					0	0	0	0	A	103018200	T	A	103018200	3	1	389	1	0	0	0	0	1	0	0	0	14608	1435	50	5	455	5	SLC26A5	7	103018200	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	438175	103018200	56120463	180	74865											
DGKI	9162	broad.mit.edu	37	chr7	137128844	137128844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatcttctgaagagactgGtgacctaaaaggaaataata	17	10	9	5	0	2	4	0	3	2	1	2	6	2	5	1	2	0	0	1	2	6	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:137128844G>A	ENST00000453654.1	-	28	2310	c.1771C>T	c.(1771-1773)Cca>Tca	p.P591S	DGKI_ENST00000424189.2_Missense_Mutation_p.P935S|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.P922S|DGKI_ENST00000446122.1_Missense_Mutation_p.P904S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	922					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAAGAGACTGGTGACCTAAAA	0.299													5	12					0	0	0	0	A	137128844	G	A	137128844	3	1	389	1	0	0	0	0	1	0	0	0	4508	1261	44	4	457	4	DGKI	7	137128844	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	34110644	137128844	22009819	181	74866											
TRIM24	8805	broad.mit.edu	37	chr7	138209985	138209985	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataatttgcttatttcttcaGataccaatttatagaagaag	15	16	5	5	0	2	3	1	0	1	3	2	3	2	3	1	0	2	1	1	0	8	9			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:138209985G>C	ENST00000343526.4	+	5	979		c.e5-1		TRIM24_ENST00000415680.2_Splice_Site|TRIM24_ENST00000497516.1_Splice_Site			O15164	TIF1A_HUMAN	tripartite motif containing 24						cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TATTTCTTCAGATACCAATTT	0.244													4	15					0	0	0	0	C	138209985	G	C	138209985	5	2	389	1	0	0	0	0	0	0	1	0	16593	956	33	2	782	2	TRIM24	7	138209985	Splice_Site	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1081141	138209985	20928678	182	74867											
MGAM	8972	broad.mit.edu	37	chr7	141758118	141758118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagatggtggctgcccAgatcccttatgtacgttctc	7	13	11	10	1	1	3	0	2	1	2	3	4	2	3	2	2	2	3	2	2	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:141758118A>G	ENST00000475668.2	+	31	3863	c.3809A>G	c.(3808-3810)cAg>cGg	p.Q1270R	MGAM_ENST00000549489.2_Missense_Mutation_p.Q1270R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1270	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGCTGCCCAGATCCCTTAT	0.483													12	219					0	0	0	0	G	141758118	A	G	141758118	3	3	389	1	0	0	0	0	1	0	0	0	9610	188	7	5	3927	5	MGAM	7	141758118	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	3548133	141758118	17380545	183	74868											
OR2F1	26211	broad.mit.edu	37	chr7	143657248	143657248	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacactcccatgtatttctTtctcaccaacctctcccttg	7	14	2	18	0	3	0	1	0	3	0	6	0	4	0	5	0	1	1	5	0	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:143657248T>C	ENST00000392899.1	+	1	222	c.185T>C	c.(184-186)tTt>tCt	p.F62S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATGTATTTCTTTCTCACCAAC	0.502													16	243					0	0	0	0	C	143657248	T	C	143657248	3	2	389	1	0	0	0	0	1	0	0	0	11067	1841	64	5	187	5	OR2F1	7	143657248	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	1899130	143657248	15481415	184	74869											
OR2A14	135941	broad.mit.edu	37	chr7	143826429	143826429	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacatatcctatgcttccaActatgtccccaagatgctga	11	12	6	12	0	0	3	0	2	0	1	3	3	3	3	4	0	3	2	4	0	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:143826429A>G	ENST00000408899.2	+	1	279	c.224A>G	c.(223-225)aAc>aGc	p.N75S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TATGCTTCCAACTATGTCCCC	0.448													18	224					0	0	0	0	G	143826429	A	G	143826429	3	3	389	1	0	0	0	0	1	0	0	0	11047	43	2	5	226	5	OR2A14	7	143826429	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	169181	143826429	15312234	185	74870											
OR2A7	401427	broad.mit.edu	37	chr7	143955984	143955984	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccataaaagagtccaatCacacagaggtgggagaagca	16	5	12	8	0	1	3	1	0	0	3	2	4	2	3	2	2	2	1	2	2	4	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:143955984C>A	ENST00000493325.1	-	1	831	c.738G>T	c.(736-738)gtG>gtT	p.V246V	RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGAGTCCAATCACACAGAGGT	0.458													45	237					5.20837e-25	7.31388e-25	1	0	A	143955984	C	A	143955984	2	1	389	1	0	0	0	0	0	0	0	1	11053	813	29	2		2	OR2A7	7	143955984	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	129555	143955984	15182679	186	74871											
GIMAP8	155038	broad.mit.edu	37	chr7	150171132	150171132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagctgcagtccacaggaCccgagcagaatccggggaca	11	3	14	13	2	0	1	0	0	0	1	2	4	2	3	3	4	3	4	3	4	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:150171132C>T	ENST00000307271.3	+	4	1289	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	239						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCACAGGACCCGAGCAGAA	0.552													31	76					0	0	0	0	T	150171132	C	T	150171132	3	4	389	1	0	0	0	0	1	0	0	0	6436	507	18	4	725	4	GIMAP8	7	150171132	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	6215148	150171132	8967531	187	74872											
XKR4	114786	broad.mit.edu	37	chr8	56435942	56435942	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagcccatcagctacaTggccgtcatcatccagttct	11	9	7	14	1	4	1	3	0	1	1	5	1	5	1	3	1	3	2	3	1	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:56435942T>C	ENST00000327381.5	+	3	1209	c.1109T>C	c.(1108-1110)aTg>aCg	p.M370T		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	370						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATCAGCTACATGGCCGTCATC	0.587													35	53					0	0	0	0	C	56435942	T	C	56435942	3	2	389	1	0	0	0	0	1	0	0	0	17529	1464	51	5	1119	5	XKR4	8	56435942	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08		56435942	89928080	188	74873											
XKR4	114786	broad.mit.edu	37	chr8	56436416	56436416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcaccaagttgtgcttGtgaggacccagccgctgcct	7	9	12	13	1	1	1	1	1	0	0	1	2	1	2	4	1	3	4	4	1	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:56436416G>A	ENST00000327381.5	+	3	1683	c.1583G>A	c.(1582-1584)tGt>tAt	p.C528Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	528						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGTTGTGCTTGTGAGGACCCA	0.532													35	66					0	0	0	0	A	56436416	G	A	56436416	3	1	389	1	0	0	0	0	1	0	0	0	17529	1377	48	4	1593	4	XKR4	8	56436416	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	474	56436416	89927606	189	74874											
ASPH	444	broad.mit.edu	37	chr8	62475423	62475423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatctctgcagggtaagcagGgaacctctcatatgacctga	12	9	10	10	0	2	2	1	2	2	0	4	3	2	3	2	2	3	3	2	2	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:62475423G>A	ENST00000541428.1	-	18	1390	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	ASPH_ENST00000379454.4_Silent_p.S439S	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	439					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGGTAAGCAGGGAACCTCTCA	0.358													20	36					0	0	0	0	A	62475423	G	A	62475423	2	1	389	1	0	0	0	0	0	0	0	1	1057	1219	43	4		4	ASPH	8	62475423	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	6039007	62475423	83888599	190	74875											
SULF1	23213	broad.mit.edu	37	chr8	70488375	70488375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaacgagaactgctcttccCcctcgtggcaggccatgcat	9	8	9	15	2	1	1	0	0	1	1	3	2	2	1	3	2	4	3	3	2	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:70488375C>T	ENST00000260128.4	+	6	1060	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	SULF1_ENST00000458141.2_Missense_Mutation_p.P115S|SULF1_ENST00000419716.3_Missense_Mutation_p.P115S|SULF1_ENST00000402687.4_Missense_Mutation_p.P115S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	115					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTGCTCTTCCCCCTCGTGGCA	0.517													36	40					0	0	0	0	T	70488375	C	T	70488375	3	4	389	1	0	0	0	0	1	0	0	0	15460	623	22	4	349	4	SULF1	8	70488375	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8012952	70488375	75875647	191	74876											
KCNB2	9312	broad.mit.edu	37	chr8	73849810	73849810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggccactgccagtcacCacagctgacttttcgctcac	8	8	8	17	1	2	1	2	1	0	0	3	1	2	1	4	1	2	2	4	1	0	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:73849810C>T	ENST00000523207.1	+	3	2808	c.2220C>T	c.(2218-2220)acC>acT	p.T740T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	740					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCCAGTCACCACAGCTGACT	0.552													63	147					0	0	0	0	T	73849810	C	T	73849810	2	4	389	1	0	0	0	0	0	0	0	1	8066	581	21	4		4	KCNB2	8	73849810	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	3361435	73849810	72514212	192	74877											
ZNF704	619279	broad.mit.edu	37	chr8	81553670	81553670	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacatgtctcggttctccatCccgtacaccttccgacactt	7	12	5	17	3	2	0	0	0	2	0	6	1	4	0	4	1	1	2	4	1	1	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:81553670C>G	ENST00000327835.3	-	9	1401	c.1170G>C	c.(1168-1170)ggG>ggC	p.G390G		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	390						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GGTTCTCCATCCCGTACACCT	0.577													3	29					0	0	0	0	G	81553670	C	G	81553670	2	3	389	1	0	0	0	0	0	0	0	1	18202	842	30	2		2	ZNF704	8	81553670	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	7703860	81553670	64810352	193	74878											
SLC26A7	115111	broad.mit.edu	37	chr8	92378815	92378815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccaaaaggaaacccTgcagcaggtgaaaattatct	14	9	7	11	0	2	1	0	1	2	0	4	2	3	2	3	2	3	2	3	2	6	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:92378815T>C	ENST00000276609.3	+	14	1735	c.1496T>C	c.(1495-1497)cTg>cCg	p.L499P	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.L499P|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L499P	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	499	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGGAAACCCTGCAGCAGGTG	0.313													7	28					0	0	0	0	C	92378815	T	C	92378815	3	2	389	1	0	0	0	0	1	0	0	0	14610	1580	55	5	1546	5	SLC26A7	8	92378815	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	10825145	92378815	53985207	194	74879											
TMEM67	91147	broad.mit.edu	37	chr8	94776143	94776143	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggaaatgaaaactctttTatggtagtaaatgctttagg	14	14	10	3	0	1	1	0	1	1	0	1	3	1	2	0	3	2	3	0	3	8	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:94776143T>C	ENST00000453321.3	+	4	538	c.480T>C	c.(478-480)ttT>ttC	p.F160F	TMEM67_ENST00000409623.3_Silent_p.F79F	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	160					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAAACTCTTTTATGGTAGTAA	0.333													5	45					0	0	0	0	C	94776143	T	C	94776143	2	2	389	1	0	0	0	0	0	0	0	1	16290	1751	61	5		5	TMEM67	8	94776143	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	2397328	94776143	51587879	195	74880											
LRP12	29967	broad.mit.edu	37	chr8	105503738	105503738	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccaagctgagatcgtacCgctagcctcagattttccaa	12	10	7	12	2	1	2	1	1	0	2	4	3	3	2	4	0	3	3	4	0	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:105503738C>G	ENST00000276654.5	-	7	1851	c.1743G>C	c.(1741-1743)gcG>gcC	p.A581A	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.A562A	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	581					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			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)			GAGATCGTACCGCTAGCCTCA	0.358													5	57					0	0	0	0	G	105503738	C	G	105503738	2	3	389	1	0	0	0	0	0	0	0	1	9018	639	23	3		3	LRP12	8	105503738	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	10727595	105503738	40860284	196	74881											
CSMD3	114788	broad.mit.edu	37	chr8	114111059	114111059	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgaaaatcagtaaatatGagtgaaattgtgtccccagg	15	12	9	5	0	1	3	1	3	0	0	2	3	2	3	2	1	0	1	2	1	6	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:114111059G>C	ENST00000297405.5	-	5	1087	c.843C>G	c.(841-843)ctC>ctG	p.L281L	CSMD3_ENST00000343508.3_Silent_p.L241L|CSMD3_ENST00000455883.2_Silent_p.L281L|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.L281L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	281	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGTAAATATGAGTGAAATTG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	13					0	0	0	0	C	114111059	G	C	114111059	2	2	389	1	0	0	0	0	0	0	0	1	3978	1277	45	2		2	CSMD3	8	114111059	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	8607321	114111059	32252963	197	74882											
CSMD3	114788	broad.mit.edu	37	chr8	114290843	114290843	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaatataccttaaatccAtgagcactaactgcaaaatc	16	11	4	10	1	0	1	0	1	0	0	3	1	1	1	2	0	4	3	2	0	8	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:114290843A>T	ENST00000297405.5	-	3	736	c.492T>A	c.(490-492)caT>caA	p.H164Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.H124Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H164Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H164Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	164	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTAAATCCATGAGCACTAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	32					0	0	0	0	T	114290843	A	T	114290843	3	4	389	1	0	0	0	0	1	0	0	0	3978	214	8	5	10907	5	CSMD3	8	114290843	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	179784	114290843	32073179	198	74883											
ZHX1	11244	broad.mit.edu	37	chr8	124265876	124265876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatgagtgatggtccccTgtcccagttgttaattcttt	6	19	8	8	0	1	2	0	2	1	0	3	2	3	2	3	1	0	2	3	1	2	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:124265876T>C	ENST00000395571.3	-	3	2928	c.2311A>G	c.(2311-2313)Agg>Ggg	p.R771G	ZHX1_ENST00000522655.1_Missense_Mutation_p.R771G|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.R771G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	771					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGGTCCCCTGTCCCAGTTG	0.453													90	114					0	0	0	0	C	124265876	T	C	124265876	3	2	389	1	0	0	0	0	1	0	0	0	17770	1579	55	5	314	5	ZHX1	8	124265876	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	9975033	124265876	22098146	199	74884											
TAF1L	138474	broad.mit.edu	37	chr9	32633899	32633899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctgttttgcccaagAgaattcgactcttcttcaga	10	13	7	11	1	3	3	1	1	2	2	4	5	3	3	2	0	1	1	2	0	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:32633899A>G	ENST00000242310.4	-	1	1768	c.1679T>C	c.(1678-1680)cTc>cCc	p.L560P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	560					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTGCCCAAGAGAATTCGACT	0.448													7	264					0	0	0	0	G	32633899	A	G	32633899	3	3	389	1	0	0	0	0	1	0	0	0	15614	304	11	5	3805	5	TAF1L	9	32633899	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08		32633899	108579532	200	74885											
ZCCHC7	84186	broad.mit.edu	37	chr9	37356934	37356934	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagggccgtgcctcatGgaaaagcaacaggtggcctc	12	5	14	10	1	1	0	1	0	0	0	2	2	1	2	3	5	3	1	3	5	5	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:37356934G>A	ENST00000336755.5	+	9	1407	c.1301G>A	c.(1300-1302)tGg>tAg	p.W434*	ZCCHC7_ENST00000534928.1_Nonsense_Mutation_p.W144*|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	434							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CGTGCCTCATGGAAAAGCAAC	0.433													21	9					0	0	0	0	A	37356934	G	A	37356934	4	1	389	1	0	0	0	0	0	1	0	0	17688	1357	47	4	1331	4	ZCCHC7	9	37356934	Nonsense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4723035	37356934	103856497	201	74886											
HNRNPK	3190	broad.mit.edu	37	chr9	86585175	86585175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaaaggctcatcaattttGatcgaagctcccgactcatg	11	12	7	11	2	4	1	3	1	1	0	6	3	5	1	1	1	1	2	1	1	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:86585175G>C	ENST00000376263.3	-	16	1486	c.1263C>G	c.(1261-1263)atC>atG	p.I421M	HNRNPK_ENST00000351839.3_Missense_Mutation_p.I421M|HNRNPK_ENST00000376264.2_Missense_Mutation_p.I421M|HNRNPK_ENST00000360384.5_Missense_Mutation_p.I421M|HNRNPK_ENST00000376281.4_Missense_Mutation_p.I421M	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	421	2 X 22 AA approximate repeats.|KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CATCAATTTTGATCGAAGCTC	0.408													7	48					0	0	0	0	C	86585175	G	C	86585175	3	2	389	1	0	0	0	0	1	0	0	0	7319	1280	45	2	174	2	HNRNPK	9	86585175	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	49228241	86585175	54628256	202	74887											
COL15A1	1306	broad.mit.edu	37	chr9	101798616	101798616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagggggatggatggaGccagtattgtgggaccccct	10	7	17	7	0	0	1	0	0	0	1	0	6	0	5	3	5	1	1	3	5	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:101798616G>T	ENST00000375001.3	+	21	2770	c.2347G>T	c.(2347-2349)Gcc>Tcc	p.A783S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	783	Triple-helical region 3 (COL3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GATGGATGGAGCCAGTATTGT	0.507													45	26					1.63429e-32	2.34485e-32	1	0	T	101798616	G	T	101798616	3	4	389	1	0	0	0	0	1	0	0	0	3702	971	34	4	2429	4	COL15A1	9	101798616	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	15213441	101798616	39414815	203	74888											
SLC2A6	11182	broad.mit.edu	37	chr9	136339125	136339125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacgaagagcagcaccttgCggcctgcgaggtccatggtg	9	6	15	11	3	0	2	0	0	0	2	1	4	1	2	3	3	4	2	3	3	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:136339125C>T	ENST00000371899.4	-	7	1090	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	SLC2A6_ENST00000371897.4_Missense_Mutation_p.R338H|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	338						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CAGCACCTTGCGGCCTGCGAG	0.692													7	13					0	0	0	0	T	136339125	C	T	136339125	3	4	389	1	0	0	0	0	1	0	0	0	14637	768	27	1	526	1	SLC2A6	9	136339125	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	34540509	136339125	4874306	204	74889											
FCN1	2219	broad.mit.edu	37	chr9	137806602	137806602	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctgtcccctggttacCtttgggccccactggtcctg	2	13	11	15	0	1	0	0	0	1	0	3	0	3	0	6	3	1	2	6	3	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:137806602C>A	ENST00000371806.3	-	3	362	c.271_splice	c.e3+1	p.G91_splice		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	91	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCCTGGTTACCTTTGGGCCCC	0.527													3	9					0.004672	0.00487238	1	0	A	137806602	C	A	137806602	5	1	389	1	0	0	0	0	0	0	1	0	5836	695	24	4	737	4	FCN1	9	137806602	Splice_Site	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1467477	137806602	3406829	205	74890											
GRIN1	2902	broad.mit.edu	37	chr9	140058287	140058287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattgcctacaagcggcaCaaggatgctcgccggaagca	12	5	13	11	3	0	1	0	0	0	1	1	4	0	3	2	3	5	3	2	3	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:140058287C>T	ENST00000371561.3	+	18	3617	c.2520C>T	c.(2518-2520)caC>caT	p.H840H	GRIN1_ENST00000371553.3_Silent_p.H861H|GRIN1_ENST00000371550.4_Silent_p.H840H|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.H840H|GRIN1_ENST00000371559.4_Silent_p.H840H|GRIN1_ENST00000371555.4_Silent_p.H861H|GRIN1_ENST00000371546.4_Silent_p.H861H|GRIN1_ENST00000315048.3_Silent_p.H840H|GRIN1_ENST00000371560.3_Silent_p.H861H	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	840					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACAAGCGGCACAAGGATGCTC	0.627													7	102					0	0	0	0	T	140058287	C	T	140058287	2	4	389	1	0	0	0	0	0	0	0	1	6828	477	17	4		4	GRIN1	9	140058287	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2251685	140058287	1155144	206	74891											
ITIH5	80760	broad.mit.edu	37	chr10	7627915	7627915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcccatccctgatgctgtCtggagtgactgatatcaagt	8	14	9	10	0	2	3	1	3	1	0	4	4	4	4	2	1	1	1	2	1	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:7627915C>G	ENST00000256861.6	-	8	1135	c.1057G>C	c.(1057-1059)Gac>Cac	p.D353H	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.D353H|ITIH5_ENST00000298441.6_Missense_Mutation_p.D139H|ITIH5_ENST00000446830.2_Missense_Mutation_p.D135H|ITIH5_ENST00000397146.2_Missense_Mutation_p.D353H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	353	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGATGCTGTCTGGAGTGACT	0.448													3	46					0	0	0	0	G	7627915	C	G	7627915	3	3	389	1	0	0	0	0	1	0	0	0	7960	913	32	2	1922	2	ITIH5	10	7627915	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		7627915	127906832	207	74892											
CUBN	8029	broad.mit.edu	37	chr10	16962047	16962047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctaagatccaaatgcaatCagcgtgcgggggataattat	13	9	11	8	3	1	1	1	0	0	1	2	2	2	2	1	2	3	2	1	2	5	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:16962047C>G	ENST00000377833.4	-	44	6801	c.6736G>C	c.(6736-6738)Gat>Cat	p.D2246H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2246	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAATGCAATCAGCGTGCGGG	0.493													5	29					0	0	0	0	G	16962047	C	G	16962047	3	3	389	1	0	0	0	0	1	0	0	0	4083	826	29	2	4231	2	CUBN	10	16962047	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	9334132	16962047	118572700	208	74893											
ZNF248	57209	broad.mit.edu	37	chr10	38121317	38121317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttatattcacggagaatCtttcttgtgtaagctccctg	9	16	7	9	1	3	1	1	0	2	1	4	2	4	1	1	1	1	2	1	1	4	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:38121317C>A	ENST00000395867.3	-	6	1516	c.966G>T	c.(964-966)aaG>aaT	p.K322N	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.K322N	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CACGGAGAATCTTTCTTGTGT	0.368													20	43					4.35082e-09	5.27579e-09	1	0	A	38121317	C	A	38121317	3	1	389	1	0	0	0	0	1	0	0	0	17888	912	32	2	777	2	ZNF248	10	38121317	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	21159270	38121317	97413430	209	74894											
ZNF33A	7581	broad.mit.edu	37	chr10	38344049	38344049	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacactttgaatgtaatGaatgtgggaaagctttctgg	14	12	11	4	0	1	3	0	2	1	1	1	4	1	4	0	2	2	2	0	2	5	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:38344049G>T	ENST00000374618.3	+	5	1175	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E339*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E332*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.E332*|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	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGAATGTAATGAATGTGGGAA	0.403													8	106					5.18039e-06	5.85169e-06	1	0	T	38344049	G	T	38344049	4	4	389	1	0	0	0	0	0	1	0	0	17949	1291	45	2	1011	2	ZNF33A	10	38344049	Nonsense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	222732	38344049	97190698	210	74895											
LGI1	9211	broad.mit.edu	37	chr10	95518019	95518019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggggaagaaaccagcgaagCcaaaatgccctgccgtgtgt	13	5	13	10	2	0	1	0	0	0	1	0	3	0	2	4	2	5	0	4	2	5	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:95518019C>A	ENST00000371418.4	+	1	378	c.118C>A	c.(118-120)Cca>Aca	p.P40T	LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Missense_Mutation_p.P40T|LGI1_ENST00000371413.3_Missense_Mutation_p.P40T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	40	LRRNT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ACCAGCGAAGCCAAAATGCCC	0.448													25	67					3.01185e-09	3.67144e-09	1	0	A	95518019	C	A	95518019	3	1	389	1	0	0	0	0	1	0	0	0	8805	739	26	4	120	4	LGI1	10	95518019	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	57173970	95518019	40016728	211	74896											
SLIT1	6585	broad.mit.edu	37	chr10	98764496	98764496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggtcgtagctgacacGcacatggccctggtacagct	7	8	13	13	2	0	1	0	1	0	0	1	1	0	1	2	3	3	5	2	3	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:98764496G>T	ENST00000266058.4	-	33	3909	c.3664C>A	c.(3664-3666)Cgt>Agt	p.R1222S	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R1222S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1222	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TAGCTGACACGCACATGGCCC	0.612													14	20					7.93312e-07	9.04963e-07	1	0	T	98764496	G	T	98764496	3	4	389	1	0	0	0	0	1	0	0	0	14827	1087	38	3	960	3	SLIT1	10	98764496	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	3246477	98764496	36770251	212	74897											
HPSE2	60495	broad.mit.edu	37	chr10	100374776	100374776	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctaaagtgttcaaccatCtaaaaggcagagaaaaagag	18	8	8	7	0	2	2	1	0	1	2	3	3	3	2	2	1	1	2	2	1	7	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:100374776C>G	ENST00000370552.3	-	9	1265		c.e9-1		HPSE2_ENST00000404542.1_Splice_Site|HPSE2_ENST00000370546.1_Splice_Site|HPSE2_ENST00000370549.1_Splice_Site	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2						carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GTTCAACCATCTAAAAGGCAG	0.388													4	59					0	0	0	0	G	100374776	C	G	100374776	5	3	389	1	0	0	0	0	0	0	1	0	7395	927	32	2	627	2	HPSE2	10	100374776	Splice_Site	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1610280	100374776	35159971	213	74898											
PDCD11	22984	broad.mit.edu	37	chr10	105184972	105184972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtggaggggccggctGccaagaggaccatgaggccg	7	5	19	10	2	0	2	0	1	0	1	0	4	0	4	4	7	1	2	4	7	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:105184972G>T	ENST00000369797.3	+	20	3089	c.2995G>T	c.(2995-2997)Gcc>Tcc	p.A999S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	999					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGGGCCGGCTGCCAAGAGGAC	0.547													21	35					1.50039e-11	1.91486e-11	1	0	T	105184972	G	T	105184972	3	4	389	1	0	0	0	0	1	0	0	0	11688	1319	46	4	3069	4	PDCD11	10	105184972	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4810196	105184972	30349775	214	74899											
ABLIM1	3983	broad.mit.edu	37	chr10	116201510	116201510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccatttcttccatagccagGgagagatgcagttttagatg	10	12	10	9	0	1	2	0	0	1	2	2	4	2	3	3	1	2	2	3	1	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:116201510G>T	ENST00000369252.4	-	18	2090	c.1789C>A	c.(1789-1791)Cct>Act	p.P597T	ABLIM1_ENST00000369266.3_Missense_Mutation_p.P334T|ABLIM1_ENST00000533213.2_Missense_Mutation_p.P597T|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P334T|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P280T|ABLIM1_ENST00000277895.5_Missense_Mutation_p.P657T	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	657					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCATAGCCAGGGAGAGATGCA	0.408													5	47					1.06961e-07	1.26384e-07	1	0	T	116201510	G	T	116201510	3	4	389	1	0	0	0	0	1	0	0	0	94	1232	43	4	387	4	ABLIM1	10	116201510	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	11016538	116201510	19333237	215	74900											
PHRF1	57661	broad.mit.edu	37	chr11	592631	592631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggtgtgcggcaggagcGaccgtgaggacaggcttttg	7	8	19	7	3	0	2	0	2	0	0	0	5	0	4	1	5	2	2	1	5	0	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:592631G>T	ENST00000264555.5	+	6	705	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	PHRF1_ENST00000533464.1_Missense_Mutation_p.D189Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.D193Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.D192Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	193							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGGCAGGAGCGACCGTGAGGA	0.647													67	59					3.07281e-33	4.42255e-33	1	0	T	592631	G	T	592631	3	4	389	1	0	0	0	0	1	0	0	0	11933	1058	37	3	595	3	PHRF1	11	592631	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08		592631	134413885	216	74901											
OR52A5	390054	broad.mit.edu	37	chr11	5153421	5153421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaatggcagccctgagtGtcaccccaagtccaatatga	13	8	9	11	0	1	3	1	2	0	1	2	3	2	3	4	1	1	1	4	1	5	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:5153421G>T	ENST00000307388.1	-	1	451	c.452C>A	c.(451-453)aCa>aAa	p.T151K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCCCTGAGTGTCACCCCAAG	0.478													26	22					9.57634e-11	1.19899e-10	1	0	T	5153421	G	T	5153421	3	4	389	1	0	0	0	0	1	0	0	0	11181	1377	48	4	501	4	OR52A5	11	5153421	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4560790	5153421	129853095	217	74902											
OR51B2	79345	broad.mit.edu	37	chr11	5344624	5344624	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtttagataaaaggcggaTaatgccatattgtatttgct	13	15	9	4	1	0	1	0	0	0	1	0	2	0	2	1	2	2	3	1	2	6	8			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:5344624T>A	ENST00000328813.2	-	1	958	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGGCGGATAATGCCATAT	0.373													5	47					0	0	0	0	A	5344624	T	A	5344624	3	1	389	1	0	0	0	0	1	0	0	0	11160	1406	49	5	38	5	OR51B2	11	5344624	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	191203	5344624	129661892	218	74903											
EIF4G2	1982	broad.mit.edu	37	chr11	10825038	10825038	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtaccttggctcgttCatggtctaatctaggtccca	8	12	8	13	2	3	0	1	0	2	0	5	0	4	0	2	3	1	3	2	3	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:10825038C>A	ENST00000526148.1	-	9	1312	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	EIF4G2_ENST00000525681.1_Nonsense_Mutation_p.E268*|EIF4G2_ENST00000339995.5_Nonsense_Mutation_p.E268*|EIF4G2_ENST00000396525.2_Nonsense_Mutation_p.E268*	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	268	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTGGCTCGTTCATGGTCTAAT	0.403													8	31					1.12685e-05	1.2636e-05	1	0	A	10825038	C	A	10825038	4	1	389	1	0	0	0	0	0	1	0	0	5075	835	29	2	1977	2	EIF4G2	11	10825038	Nonsense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	5480414	10825038	124181478	219	74904											
KCNC1	3746	broad.mit.edu	37	chr11	17757783	17757783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcacgggcaagctgcactgCccagccgacgtgtgcgggcc	6	4	15	16	5	0	0	0	0	0	0	0	1	0	0	3	2	5	4	3	2	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:17757783C>G	ENST00000379472.3	+	1	264	c.234C>G	c.(232-234)tgC>tgG	p.C78W	KCNC1_ENST00000265969.6_Missense_Mutation_p.C78W	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	78						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGCTGCACTGCCCAGCCGACG	0.652													9	27					0	0	0	0	G	17757783	C	G	17757783	3	3	389	1	0	0	0	0	1	0	0	0	8067	747	26	4	236	4	KCNC1	11	17757783	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	6932745	17757783	117248733	220	74905											
NELL1	4745	broad.mit.edu	37	chr11	20940826	20940826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctgcagtgatttcttaagCctggtgcaaggaataatgga	12	11	11	7	0	1	1	0	1	1	0	1	3	1	3	2	3	3	2	2	3	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:20940826C>A	ENST00000298925.5	+	8	942	c.789C>A	c.(787-789)agC>agA	p.S263R	NELL1_ENST00000357134.5_Missense_Mutation_p.S235R|NELL1_ENST00000325319.5_Missense_Mutation_p.S178R|NELL1_ENST00000532434.1_Missense_Mutation_p.S235R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	235					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTTCTTAAGCCTGGTGCAAG	0.299													5	55					1.23904e-05	1.38604e-05	1	0	A	20940826	C	A	20940826	3	1	389	1	0	0	0	0	1	0	0	0	10403	738	26	4	731	4	NELL1	11	20940826	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	3183043	20940826	114065690	221	74906											
ANO3	63982	broad.mit.edu	37	chr11	26563574	26563574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatgagcgctgggcacgCtggggaatgtggtataagca	10	10	15	6	2	0	1	0	1	0	0	0	2	0	2	0	4	2	5	0	4	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:26563574C>T	ENST00000256737.3	+	11	1965	c.1113C>T	c.(1111-1113)cgC>cgT	p.R371R	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Silent_p.R355R|ANO3_ENST00000531568.1_Silent_p.R225R|ANO3_ENST00000537978.1_Silent_p.R355R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	371						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCTGGGCACGCTGGGGAATGT	0.413													6	29					0	0	0	0	T	26563574	C	T	26563574	2	4	389	1	0	0	0	0	0	0	0	1	697	784	28	4		4	ANO3	11	26563574	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	5622748	26563574	108442942	222	74907											
OR4A15	81328	broad.mit.edu	37	chr11	55136039	55136039	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtcactgggctttctaTgatagctaatggaggagcga	10	12	12	7	1	2	1	1	1	1	0	2	4	2	3	0	3	2	2	0	3	4	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:55136039T>A	ENST00000314706.3	+	1	680	c.680T>A	c.(679-681)aTg>aAg	p.M227K		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGGCTTTCTATGATAGCTAAT	0.438													35	38					0	0	0	0	A	55136039	T	A	55136039	3	1	389	1	0	0	0	0	1	0	0	0	11111	1464	51	5	682	5	OR4A15	11	55136039	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	28572465	55136039	79870477	223	74908											
OR5D16	390144	broad.mit.edu	37	chr11	55606467	55606467	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctattcctccatcattgcTcccatgatgctggtgaacct	7	14	7	13	0	1	2	1	2	0	0	4	2	4	2	4	1	4	3	4	1	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:55606467T>A	ENST00000378396.1	+	1	240	c.240T>A	c.(238-240)gcT>gcA	p.A80A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATCATTGCTCCCATGATGC	0.393													57	107					0	0	0	0	A	55606467	T	A	55606467	2	1	389	1	0	0	0	0	0	0	0	1	11227	1538	54	5		5	OR5D16	11	55606467	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	470428	55606467	79400049	224	74909											
OR8H1	219469	broad.mit.edu	37	chr11	56058246	56058246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacaaaaaagaacatctggGcaaagcagcccatgaaggaa	20	3	10	8	0	1	3	0	1	1	2	1	4	1	4	1	2	3	2	1	2	7	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:56058246G>T	ENST00000313022.2	-	1	320	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAACATCTGGGCAAAGCAGCC	0.423													57	132					6.4308e-24	8.94889e-24	1	0	T	56058246	G	T	56058246	3	4	389	1	0	0	0	0	1	0	0	0	11308	1203	42	4	644	4	OR8H1	11	56058246	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	451779	56058246	78948270	225	74910											
FAM111B	374393	broad.mit.edu	37	chr11	58893522	58893522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctctgatgggtcctcagGctccccagtgtttaatgcat	6	15	9	11	0	2	1	1	1	1	0	5	1	4	1	3	2	1	3	3	2	1	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:58893522G>A	ENST00000343597.3	+	4	2143	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	FAM111B_ENST00000411426.1_Missense_Mutation_p.G621D|FAM111B_ENST00000529618.1_Missense_Mutation_p.G621D	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	651							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GGGTCCTCAGGCTCCCCAGTG	0.398													7	35					0	0	0	0	A	58893522	G	A	58893522	3	1	389	1	0	0	0	0	1	0	0	0	5441	1203	42	4	1958	4	FAM111B	11	58893522	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2835276	58893522	76112994	226	74911											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603285	64603285	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccactgtccctgcagctgCgtcacctgccggctcaggga	5	8	11	17	2	2	0	2	0	0	0	4	1	4	1	4	2	4	3	4	2	0	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:64603285C>A	ENST00000342711.5	-	14	1706	c.1707G>T	c.(1705-1707)acG>acT	p.T569T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	569					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCTGCAGCTGCGTCACCTGCC	0.667													16	16					4.7546e-09	5.73532e-09	1	0	A	64603285	C	A	64603285	2	1	389	1	0	0	0	0	0	0	0	1	3103	755	27	3		3	CDC42BPG	11	64603285	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	5709763	64603285	70403231	227	74912											
NAALADL1	10004	broad.mit.edu	37	chr11	64815685	64815687	+	Splice_Site	DEL	CTC	CTC	-																															tcctgcagcttgttgaagaaCtcctgcgggtgcgaggggcg																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:64815685_64815687delCTC	ENST00000358658.3	-	10	1312_1314	c.1284_splice	c.e10-1	p.E429_splice	NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000356632.3_Splice_Site_p.E394_splice|NAALADL1_ENST00000355369.2_Splice_Site_p.E429_splice|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355721.3_Splice_Site_p.E388_splice|NAALADL1_ENST00000339885.2_Splice_Site_p.E429_splice|NAALADL1_ENST00000340252.4_Splice_Site_p.E480_splice	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	429	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TGTTGAAGAACTCCTGCGGGTGC	0.621													15	117	---	---	---	---					-	64815687	CTC	-	64815685	8	5	389	1	0	1	0	1	0	0	1	0	10199	564	20	0	971	0	NAALADL1	11	64815685	Splice_Site	DEL	CTC	TCGA-DQ-7589-01A-11D-2229-08	212400	64815685	70190831	228	74913											
SUV420H1	51111	broad.mit.edu	37	chr11	67926194	67926194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttgtcctcactgacCgccgagttatgtaggtgcag	6	14	11	10	2	2	1	1	1	1	0	3	2	3	1	3	1	1	4	3	1	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:67926194C>A	ENST00000304363.4	-	11	1972	c.1619G>T	c.(1618-1620)cGg>cTg	p.R540L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTCACTGACCGCCGAGTTAT	0.532													12	85					4.3838e-07	5.07598e-07	1	0	A	67926194	C	A	67926194	3	1	389	1	0	0	0	0	1	0	0	0	15504	652	23	3	1042	3	SUV420H1	11	67926194	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	3110509	67926194	67080322	229	74914											
CCND1	595	broad.mit.edu	37	chr11	69456170	69456170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacgaccgggtgctgcgggCcatgctgaaggcggaggaga	9	4	18	10	4	0	2	0	1	0	1	0	5	0	3	2	5	4	2	2	5	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:69456170C>T	ENST00000227507.2	+	1	316	c.89C>T	c.(88-90)gCc>gTc	p.A30V	CCND1_ENST00000536559.1_Missense_Mutation_p.A30V	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	30	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GTGCTGCGGGCCATGCTGAAG	0.642			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			39	2696					0	0	0	0	T	69456170	C	T	69456170	3	4	389	1	0	0	0	0	1	0	0	0	2945	739	26	4	91	4	CCND1	11	69456170	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1529976	69456170	65550346	230	74915											
FADD	8772	broad.mit.edu	37	chr11	70052389	70052389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgcgggagtcactgaGaatctggaagaacacagaga	13	6	15	7	2	2	3	1	1	1	3	2	7	2	5	0	2	2	0	0	2	3	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:70052389G>T	ENST00000301838.4	+	2	734	c.437G>T	c.(436-438)aGa>aTa	p.R146I		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	146	Death.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAGTCACTGAGAATCTGGAAG	0.572													10	332					2.17888e-05	2.42564e-05	1	0	T	70052389	G	T	70052389	3	4	389	1	0	0	0	0	1	0	0	0	5405	942	33	2	443	2	FADD	11	70052389	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	596219	70052389	64954127	231	74916											
NAALAD2	10003	broad.mit.edu	37	chr11	89885504	89885504	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggagccataggaatcatCttgtactcagatccagctga	12	9	10	10	0	3	2	2	1	1	1	4	4	4	4	2	2	3	3	2	2	3	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:89885504C>T	ENST00000534061.1	+	6	878	c.648C>T	c.(646-648)atC>atT	p.I216I	NAALAD2_ENST00000375944.3_Silent_p.I216I|NAALAD2_ENST00000321955.4_Silent_p.I216I|NAALAD2_ENST00000525171.1_Silent_p.I216I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	216					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TAGGAATCATCTTGTACTCAG	0.438													5	21					0	0	0	0	T	89885504	C	T	89885504	2	4	389	1	0	0	0	0	0	0	0	1	10198	903	32	2		2	NAALAD2	11	89885504	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	19833115	89885504	45121012	232	74917											
MMP1	4312	broad.mit.edu	37	chr11	102663440	102663440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattgagctcaacttccGggtagaagggatttgtgcgc	10	11	13	7	2	1	3	1	2	0	1	2	4	2	4	1	2	3	2	1	2	4	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:102663440G>T	ENST00000315274.6	-	7	996	c.929C>A	c.(928-930)cCg>cAg	p.P310Q	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	310	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CTCAACTTCCGGGTAGAAGGG	0.428													23	35					3.08376e-08	3.6719e-08	1	0	T	102663440	G	T	102663440	3	4	389	1	0	0	0	0	1	0	0	0	9717	1116	39	3	496	3	MMP1	11	102663440	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	12777936	102663440	32343076	233	74918											
DYNC2H1	79659	broad.mit.edu	37	chr11	102991188	102991188	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattttaggtcttggctattAgaacaattcatgagaagttt	12	16	8	5	0	2	2	1	1	1	2	2	3	2	2	0	2	1	2	0	2	6	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:102991188A>T	ENST00000375735.2	+	7	1156	c.1012A>T	c.(1012-1014)Aga>Tga	p.R338*	DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.R338*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R338*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	338	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTGGCTATTAGAACAATTCA	0.328													10	50					0	0	0	0	T	102991188	A	T	102991188	4	4	389	1	0	0	0	0	0	1	0	0	4882	412	15	5	1038	5	DYNC2H1	11	102991188	Nonsense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	327748	102991188	32015328	234	74919											
GUCY1A2	2977	broad.mit.edu	37	chr11	106558388	106558388	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagtccttacctccaggaAatagcagatcccaggaattt	13	9	7	12	0	0	1	0	0	0	1	3	3	3	3	5	2	2	1	5	2	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:106558388A>T	ENST00000526355.1	-	8	2554	c.2086T>A	c.(2086-2088)Ttc>Atc	p.F696I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.F717I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.F727I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	696					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACCTCCAGGAAATAGCAGATC	0.443													12	86					0	0	0	0	T	106558388	A	T	106558388	3	4	389	1	0	0	0	0	1	0	0	0	6943	14	1	5	116	5	GUCY1A2	11	106558388	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	3567200	106558388	28448128	235	74920											
ALG9	79796	broad.mit.edu	37	chr11	111708982	111708982	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctacctctgaacagTgccacagagcgagaaaatga	16	6	10	9	1	2	5	0	2	2	3	2	7	2	5	2	0	4	0	2	0	5	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:111708982T>A	ENST00000398006.2	-	11	1688	c.780A>T	c.(778-780)gcA>gcT	p.A260A	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Silent_p.A267A|ALG9_ENST00000527228.1_5'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	431					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTCTGAACAGTGCCACAGAGC	0.408													9	18					0	0	0	0	A	111708982	T	A	111708982	2	1	389	1	0	0	0	0	0	0	0	1	524	1683	59	5		5	ALG9	11	111708982	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	5150594	111708982	23297534	236	74921											
OR8D1	283159	broad.mit.edu	37	chr11	124180055	124180055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaaggtgttaaaccccGcaatgataaaaagtagaagc	17	6	9	9	1	0	2	0	1	0	1	0	2	0	2	3	1	2	4	3	1	9	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:124180055G>T	ENST00000357821.2	-	1	678	c.608C>A	c.(607-609)gCg>gAg	p.A203E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A203V(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		GTTAAACCCCGCAATGATAAA	0.488													10	31					1.76689e-08	2.12027e-08	1	0	T	124180055	G	T	124180055	3	4	389	1	0	0	0	0	1	0	0	0	11302	1087	38	3	321	3	OR8D1	11	124180055	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	12471073	124180055	10826461	237	74922											
KCNA6	3742	broad.mit.edu	37	chr12	4919519	4919519	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactactaccagtctgggggCcgcctgcggaggccggtcaa	7	7	14	13	3	2	0	1	0	1	0	2	1	2	1	4	5	4	0	4	5	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:4919519C>A	ENST00000433855.1	+	1	1178	c.312C>A	c.(310-312)ggC>ggA	p.G104G	KCNA6_ENST00000280684.3_Silent_p.G104G	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	104						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AGTCTGGGGGCCGCCTGCGGA	0.662										HNSCC(72;0.22)			42	69					2.54354e-34	3.68375e-34	1	0	A	4919519	C	A	4919519	2	1	389	1	0	0	0	0	0	0	0	1	8060	726	26	4		4	KCNA6	12	4919519	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		4919519	128932376	238	74923											
GDF3	9573	broad.mit.edu	37	chr12	7848075	7848075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttggtctgggagaaagcGaagtacattcccgcggacgc	10	7	13	11	4	1	1	0	0	1	1	2	4	2	2	2	3	2	1	2	3	3	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:7848075G>A	ENST00000329913.3	-	1	297	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	84					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGAAAGCGAAGTACATTC	0.483													6	67					0	0	0	0	A	7848075	G	A	7848075	3	1	389	1	0	0	0	0	1	0	0	0	6366	1058	37	1	852	1	GDF3	12	7848075	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2928556	7848075	126003820	239	74924											
AICDA	57379	broad.mit.edu	37	chr12	8759495	8759495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaccaaagtccagtgaaaagGatgtagcactgtcacgcctc	14	7	9	11	1	1	1	1	1	0	0	3	2	2	2	3	1	2	2	3	1	5	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:8759495G>C	ENST00000229335.6	-	2	225	c.122C>G	c.(121-123)tCc>tGc	p.S41C	AICDA_ENST00000537228.1_Missense_Mutation_p.S41C	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	41					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CAGTGAAAAGGATGTAGCACT	0.463													4	42					0	0	0	0	C	8759495	G	C	8759495	3	2	389	1	0	0	0	0	1	0	0	0	422	1174	41	2	490	2	AICDA	12	8759495	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	911420	8759495	125092400	240	74925											
KIAA1467	57613	broad.mit.edu	37	chr12	13214692	13214692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagcgcattcaatgcaaCgtcaggtaaataccatttac	13	10	7	11	2	3	0	3	0	0	0	3	0	3	0	1	1	5	4	1	1	6	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:13214692C>T	ENST00000197268.8	+	4	836	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	239						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTCAATGCAACGTCAGGTAAA	0.458													7	33					0	0	0	0	T	13214692	C	T	13214692	3	4	389	1	0	0	0	0	1	0	0	0	8286	536	19	1	730	1	KIAA1467	12	13214692	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	4455197	13214692	120637203	241	74926											
ATF7IP	55729	broad.mit.edu	37	chr12	14591086	14591086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacagtggttgctggaagAaaaattgtgtgcgctgcagt	11	12	13	5	1	0	1	0	0	0	1	0	2	0	2	0	2	4	4	0	2	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:14591086A>G	ENST00000544627.1	+	5	2158	c.1838A>G	c.(1837-1839)gAa>gGa	p.E613G	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E604G|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E604G|ATF7IP_ENST00000540793.1_Missense_Mutation_p.E605G|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E605G			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	605	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGCTGGAAGAAAAATTGTGT	0.348													6	11					0	0	0	0	G	14591086	A	G	14591086	3	3	389	1	0	0	0	0	1	0	0	0	1091	246	9	5	1828	5	ATF7IP	12	14591086	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1376394	14591086	119260809	242	74927											
GYS2	2998	broad.mit.edu	37	chr12	21733364	21733364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgagtcttcatattaTgctcaaaatatggacctatc	12	13	5	11	0	3	1	2	1	1	0	4	2	3	2	3	1	1	1	3	1	6	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:21733364T>A	ENST00000261195.2	-	2	469	c.215A>T	c.(214-216)cAt>cTt	p.H72L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	72					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCATATTATGCTCAAAATA	0.423													37	68					0	0	0	0	A	21733364	T	A	21733364	3	1	389	1	0	0	0	0	1	0	0	0	6963	1464	51	5	1956	5	GYS2	12	21733364	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	7142278	21733364	112118531	243	74928											
CASC1	55259	broad.mit.edu	37	chr12	25297596	25297596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttgtgtttcagagaaTctaacacttctgtgcctgtt	9	16	7	9	0	3	1	1	0	2	1	3	2	3	1	2	0	2	2	2	0	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:25297596T>C	ENST00000354189.5	-	9	914	c.879A>G	c.(877-879)agA>agG	p.R293R	CASC1_ENST00000395987.3_Silent_p.R235R|CASC1_ENST00000395990.2_Silent_p.R189R|CASC1_ENST00000320267.9_Silent_p.R229R|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Silent_p.R170R|CASC1_ENST00000537577.1_Silent_p.R117R	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	229										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTCAGAGAATCTAACACTTC	0.358													13	19					0	0	0	0	C	25297596	T	C	25297596	2	2	389	1	0	0	0	0	0	0	0	1	2685	1432	50	5		5	CASC1	12	25297596	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	3564232	25297596	108554299	244	74929											
CNTN1	1272	broad.mit.edu	37	chr12	41410718	41410718	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattaattcagcacaagacGgtaggtgaaagaaagacctt	16	9	9	7	1	2	4	2	1	0	3	2	4	2	4	1	2	1	2	1	2	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:41410718G>A	ENST00000551295.2	+	19	2536	c.2419_splice	c.e19+1	p.A807_splice	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Splice_Site_p.A807_splice|CNTN1_ENST00000348761.2_Splice_Site_p.A796_splice	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	807					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGCACAAGACGGTAGGTGAAA	0.428													15	36					0	0	0	0	A	41410718	G	A	41410718	5	1	389	1	0	0	0	0	0	0	1	0	3670	1130	39	1	2489	1	CNTN1	12	41410718	Splice_Site	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	16113122	41410718	92441177	245	74930											
ARID2	196528	broad.mit.edu	37	chr12	46211563	46211563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatgaagtggactttgctAttaacgtatgcactctccta	12	13	7	9	1	1	1	0	1	1	0	2	2	1	2	1	1	3	3	1	1	6	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:46211563A>G	ENST00000334344.6	+	5	701	c.529A>G	c.(529-531)Att>Gtt	p.I177V	ARID2_ENST00000422737.1_Missense_Mutation_p.I28V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	177					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGACTTTGCTATTAACGTATG	0.383			"N, S, F"		hepatocellular carcinoma								9	23					0	0	0	0	G	46211563	A	G	46211563	3	3	389	1	0	0	0	0	1	0	0	0	917	449	16	5	547	5	ARID2	12	46211563	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	4800845	46211563	87640332	246	74931											
LRP1	4035	broad.mit.edu	37	chr12	57588842	57588842	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtggctgtgtgacggcAgcgatgactgtggggatggc	7	8	19	7	2	0	2	0	2	0	0	0	4	0	3	0	5	2	3	0	5	0	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:57588842A>G	ENST00000243077.3	+	51	8732	c.8266A>G	c.(8266-8268)Agc>Ggc	p.S2756G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2756	LDL-receptor class A 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGTGACGGCAGCGATGACTG	0.612													46	89					0	0	0	0	G	57588842	A	G	57588842	3	3	389	1	0	0	0	0	1	0	0	0	9015	188	7	5	8468	5	LRP1	12	57588842	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	11377279	57588842	76263053	247	74932											
KCNC2	3747	broad.mit.edu	37	chr12	75444618	75444618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcaaaactcctagagcCaggaaaattatcagcagcaa	19	7	6	9	0	2	1	2	0	0	1	3	2	3	2	2	1	4	2	2	1	9	3	rs139012036	byFrequency	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:75444618C>T	ENST00000549446.1	-	3	1847	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	KCNC2_ENST00000298972.1_Silent_p.L389L|KCNC2_ENST00000341669.3_Silent_p.L389L|KCNC2_ENST00000540018.1_Silent_p.L389L|KCNC2_ENST00000350228.2_Silent_p.L389L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Silent_p.L389L|KCNC2_ENST00000393288.2_Silent_p.L389L|KCNC2_ENST00000550433.1_Silent_p.L389L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	389					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CTCCTAGAGCCAGGAAAATTA	0.438													17	57					0	0	0	0	T	75444618	C	T	75444618	2	4	389	1	0	0	0	0	0	0	0	1	8068	581	21	4		4	KCNC2	12	75444618	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	17855776	75444618	58407277	248	74933											
ACSS3	79611	broad.mit.edu	37	chr12	81503351	81503351	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaggtttgtggaaggAatgcttaacatttgttacaa	11	17	9	4	0	1	0	1	0	0	0	1	2	1	2	0	3	3	3	0	3	5	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:81503351A>G	ENST00000548058.1	+	2	1234	c.324A>G	c.(322-324)ggA>ggG	p.G108G	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.G107G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	108						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTGTGGAAGGAATGCTTAACA	0.308													6	29					0	0	0	0	G	81503351	A	G	81503351	2	3	389	1	0	0	0	0	0	0	0	1	190	233	9	5		5	ACSS3	12	81503351	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	6058733	81503351	52348544	249	74934											
PPFIA2	8499	broad.mit.edu	37	chr12	81769716	81769716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatatcttccttttgtgcCatggcctacaattaaaataa	12	15	4	10	0	1	0	0	0	1	0	3	0	3	0	4	1	2	0	4	1	6	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:81769716C>A	ENST00000550584.2	-	9	1285	c.990G>T	c.(988-990)atG>atT	p.M330I	PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M177I|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M330I|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M312I|PPFIA2_ENST00000549396.1_Missense_Mutation_p.M330I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M231I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M330I|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M256I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M312I	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	256										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTTTTGTGCCATGGCCTACA	0.303													11	22					1.08611e-07	1.2768e-07	1	0	A	81769716	C	A	81769716	3	1	389	1	0	0	0	0	1	0	0	0	12381	594	21	4	2875	4	PPFIA2	12	81769716	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	266365	81769716	52082179	250	74935											
STAB2	55576	broad.mit.edu	37	chr12	104089346	104089346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctggtcccacaaagaCgtctaactggctccttacca	10	9	9	13	1	1	1	0	0	1	1	3	1	3	1	3	3	3	2	3	3	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:104089346C>G	ENST00000388887.2	+	32	3598	c.3394C>G	c.(3394-3396)Cgt>Ggt	p.R1132G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1132					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCACAAAGACGTCTAACTGG	0.478													34	35					0	0	0	0	G	104089346	C	G	104089346	3	3	389	1	0	0	0	0	1	0	0	0	15328	536	19	3	3520	3	STAB2	12	104089346	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	22319630	104089346	29762549	251	74936											
CHST11	50515	broad.mit.edu	37	chr12	105151191	105151191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaaacgccagcggaagaaCgccacccaggaggccctgcg	12	2	12	15	4	1	1	1	0	0	1	1	3	1	3	4	3	4	0	4	3	3	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:105151191C>A	ENST00000303694.5	+	3	1108	c.669C>A	c.(667-669)aaC>aaA	p.N223K	CHST11_ENST00000549260.1_Missense_Mutation_p.N218K	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	223					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.N223N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AGCGGAAGAACGCCACCCAGG	0.567													8	87					0.0477658	0.0485006	1	0	A	105151191	C	A	105151191	3	1	389	1	0	0	0	0	1	0	0	0	3428	535	19	3	679	3	CHST11	12	105151191	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1061845	105151191	28700704	252	74937											
KIAA1033	23325	broad.mit.edu	37	chr12	105553807	105553807	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagtcctcagtgatcacAcacgaaattctgccgaaggc	12	9	8	12	2	4	1	3	1	1	0	5	3	5	1	2	1	1	0	2	1	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:105553807A>T	ENST00000332180.5	+	29	3028	c.2941A>T	c.(2941-2943)Aca>Tca	p.T981S		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	981					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CAGTGATCACACACGAAATTC	0.363													6	94					0	0	0	0	T	105553807	A	T	105553807	3	4	389	1	0	0	0	0	1	0	0	0	8257	159	6	5	3055	5	KIAA1033	12	105553807	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	402616	105553807	28298088	253	74938											
TMEM132B	114795	broad.mit.edu	37	chr12	125900196	125900196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccaccctcacctgcaTgggccatcgcccggacacgc	6	5	11	19	4	1	0	1	0	0	0	3	1	1	1	5	3	1	1	5	3	0	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:125900196T>A	ENST00000299308.3	+	3	1072	c.1064T>A	c.(1063-1065)aTg>aAg	p.M355K		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	355						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTCACCTGCATGGGCCATCGC	0.587													18	33					0	0	0	0	A	125900196	T	A	125900196	3	1	389	1	0	0	0	0	1	0	0	0	16140	1464	51	5	1074	5	TMEM132B	12	125900196	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	20346389	125900196	7951699	254	74939											
PIWIL1	9271	broad.mit.edu	37	chr12	130851759	130851759	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagacttcagaatccActtcctggaacagttattga	13	10	10	8	0	1	3	1	1	0	2	3	6	3	6	2	3	1	1	2	3	4	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:130851759A>G	ENST00000245255.3	+	19	2549	c.2277A>G	c.(2275-2277)ccA>ccG	p.P759P	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	759	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTCAGAATCCACTTCCTGGAA	0.408													28	60					0	0	0	0	G	130851759	A	G	130851759	2	3	389	1	0	0	0	0	0	0	0	1	12029	146	6	5		5	PIWIL1	12	130851759	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	4951563	130851759	3000136	255	74940											
ATP8A2	51761	broad.mit.edu	37	chr13	26125580	26125580	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggccttggtgagctcGgcgggggccctgtactggaa	5	9	17	10	2	1	1	1	1	0	0	2	2	1	2	2	6	2	2	2	6	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:26125580G>T	ENST00000381655.2	+	11	1138	c.996G>T	c.(994-996)tcG>tcT	p.S332S	ATP8A2_ENST00000255283.8_Silent_p.S292S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	292					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGGTGAGCTCGGCGGGGGCCC	0.512													15	36					2.31682e-05	2.57301e-05	1	0	T	26125580	G	T	26125580	2	4	389	1	0	0	0	0	0	0	0	1	1197	1103	39	3		3	ATP8A2	13	26125580	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08		26125580	89044298	256	74941											
FLT3	2322	broad.mit.edu	37	chr13	28636192	28636192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcacacccgaggtcttcCggggattctgatacctacgt	9	9	10	13	4	2	1	0	1	2	0	3	3	3	2	3	3	3	1	3	3	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:28636192C>T	ENST00000380982.4	-	3	261	c.180G>A	c.(178-180)ccG>ccA	p.P60P	FLT3_ENST00000537084.1_Silent_p.P60P|FLT3_ENST00000241453.7_Silent_p.P60P			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	60					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	CGAGGTCTTCCGGGGATTCTG	0.488			"Mis, O"		"AML, ALL"								6	50					0	0	0	0	T	28636192	C	T	28636192	2	4	389	1	0	0	0	0	0	0	0	1	5987	639	23	1		1	FLT3	13	28636192	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2510612	28636192	86533686	257	74942											
KL	9365	broad.mit.edu	37	chr13	33635739	33635739	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatcacgtggctcaactcCcccagtcaggtggcggtagt	8	8	12	13	2	3	0	3	0	0	0	4	1	4	0	2	4	1	2	2	4	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:33635739C>G	ENST00000380099.3	+	4	2531	c.2523C>G	c.(2521-2523)tcC>tcG	p.S841S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	841	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCTCAACTCCCCCAGTCAGG	0.463													10	70					0	0	0	0	G	33635739	C	G	33635739	2	3	389	1	0	0	0	0	0	0	0	1	8383	610	22	4		4	KL	13	33635739	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	4999547	33635739	81534139	258	74943											
MAB21L1	4081	broad.mit.edu	37	chr13	36050122	36050122	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgttgagagagctgatgaAccgcggctcctgcacttcca	8	9	11	13	3	0	4	0	3	0	1	3	5	2	4	3	1	3	4	3	1	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:36050122A>C	ENST00000379919.4	-	1	710	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	52					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GAGCTGATGAACCGCGGCTCC	0.517													25	64					0	0	0	0	C	36050122	A	C	36050122	3	2	389	1	0	0	0	0	1	0	0	0	9206	43	2	5	929	5	MAB21L1	13	36050122	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	2414383	36050122	79119756	259	74944											
OLFM4	10562	broad.mit.edu	37	chr13	53603078	53603078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccagccccggcttcagctCtttcccaggtgttgactcca	5	11	8	17	1	2	1	1	1	1	0	5	1	5	1	5	2	2	3	5	2	0	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:53603078C>G	ENST00000219022.2	+	1	185	c.107C>G	c.(106-108)tCt>tGt	p.S36C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	36	Ser-rich.		S -> P (in dbSNP:rs35790097).		cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GGCTTCAGCTCTTTCCCAGGT	0.617													42	86					0	0	0	0	G	53603078	C	G	53603078	3	3	389	1	0	0	0	0	1	0	0	0	10926	913	32	2	109	2	OLFM4	13	53603078	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	17552956	53603078	61566800	260	74945											
PCDH17	27253	broad.mit.edu	37	chr13	58207812	58207812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccctggtgcgggtcactGaccgggactctggcaagaac	7	7	14	13	3	2	2	1	1	1	1	3	3	2	3	2	4	2	1	2	4	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:58207812G>T	ENST00000377918.3	+	1	1158	c.1132G>T	c.(1132-1134)Gac>Tac	p.D378Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	378	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGGGTCACTGACCGGGACTC	0.736													5	21					1.024e-07	1.21616e-07	1	0	T	58207812	G	T	58207812	3	4	389	1	0	0	0	0	1	0	0	0	11583	1290	45	2	1134	2	PCDH17	13	58207812	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4604734	58207812	56962066	261	74946											
FARP1	10160	broad.mit.edu	37	chr13	99064263	99064263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcatactaattttctcaagGaaattgagcaacgacttgcc	13	13	6	9	1	2	1	2	1	1	0	3	3	2	2	1	1	4	1	1	1	5	7			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:99064263G>A	ENST00000376586.2	+	16	2137	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	FARP1_ENST00000319562.6_Missense_Mutation_p.E601K|FARP1_ENST00000595437.1_Missense_Mutation_p.E601K			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	601	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTTCTCAAGGAAATTGAGCA	0.448													55	79					0	0	0	0	A	99064263	G	A	99064263	3	1	389	1	0	0	0	0	1	0	0	0	5721	1175	41	2	2082	2	FARP1	13	99064263	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	40856451	99064263	16105615	262	74947											
DOCK9	23348	broad.mit.edu	37	chr13	99483677	99483677	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcaggaagtagagcagctgGgaggcctccgtcctgatgga	10	7	15	9	1	1	2	1	1	0	1	3	5	3	5	3	4	2	3	3	4	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:99483677G>C	ENST00000376460.1	-	41	4571	c.4491C>G	c.(4489-4491)tcC>tcG	p.S1497S	DOCK9_ENST00000339416.2_Silent_p.S1498S|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1498					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAGCAGCTGGGAGGCCTCCG	0.488													3	11					0	0	0	0	C	99483677	G	C	99483677	2	2	389	1	0	0	0	0	0	0	0	1	4730	1219	43	4		4	DOCK9	13	99483677	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	419414	99483677	15686201	263	74948											
OR4N2	390429	broad.mit.edu	37	chr14	20296127	20296127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttgtggcccaaaccagCtggacaacttcttctgtgat	8	14	8	11	0	2	1	0	1	2	0	2	2	2	2	2	2	3	1	2	2	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:20296127C>A	ENST00000315947.1	+	1	520	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	OR4N2_ENST00000568211.1_Missense_Mutation_p.L174M	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L174V(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)		CCCAAACCAGCTGGACAACTT	0.527													67	280					4.38816e-42	6.37526e-42	1	0	A	20296127	C	A	20296127	3	1	389	1	0	0	0	0	1	0	0	0	11148	796	28	4	522	4	OR4N2	14	20296127	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		20296127	87053413	264	74949											
STXBP6	29091	broad.mit.edu	37	chr14	25288374	25288374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgcgctggtcacgctgtCagcagctgaatggaggatgc	8	8	14	11	2	2	1	2	1	0	0	2	3	2	3	0	3	4	4	0	3	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:25288374C>G	ENST00000323944.5	-	5	929	c.478G>C	c.(478-480)Gac>Cac	p.D160H	STXBP6_ENST00000546511.1_Missense_Mutation_p.D160H|STXBP6_ENST00000358326.2_Missense_Mutation_p.D160H|STXBP6_ENST00000419632.2_Missense_Mutation_p.D160H|STXBP6_ENST00000396700.1_Missense_Mutation_p.D160H|STXBP6_ENST00000548724.1_Missense_Mutation_p.D160H|STXBP6_ENST00000550887.1_Missense_Mutation_p.D160H|STXBP6_ENST00000548369.1_Missense_Mutation_p.D58H			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	160	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GTCACGCTGTCAGCAGCTGAA	0.567													6	111					0	0	0	0	G	25288374	C	G	25288374	3	3	389	1	0	0	0	0	1	0	0	0	15448	826	29	2	162	2	STXBP6	14	25288374	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	4992247	25288374	82061166	265	74950											
MDGA2	161357	broad.mit.edu	37	chr14	47426704	47426704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagagtcaaattgaccCgtccgtaataatttattgcc	11	13	7	10	2	1	2	1	2	0	1	3	3	3	2	4	0	1	1	4	0	4	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:47426704C>T	ENST00000426342.1	-	9	1814	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	MDGA2_ENST00000439988.2_Silent_p.T585T|MDGA2_ENST00000357362.3_Silent_p.T356T|MDGA2_ENST00000399232.2_Silent_p.T654T	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	585	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CAAATTGACCCGTCCGTAATA	0.443													34	56					0	0	0	0	T	47426704	C	T	47426704	2	4	389	1	0	0	0	0	0	0	0	1	9476	639	23	1		1	MDGA2	14	47426704	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	22138330	47426704	59922836	266	74951											
ADAM21	8747	broad.mit.edu	37	chr14	70924239	70924239	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggatgggaccctcgTgtacatcagagtcactcttc	8	10	12	11	1	3	1	2	0	1	1	5	3	3	3	1	3	1	2	1	3	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:70924239T>G	ENST00000603540.1	+	2	281	c.23T>G	c.(22-24)gTg>gGg	p.V8G	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.V8G	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	8					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGACCCTCGTGTACATCAGA	0.542													19	95					0	0	0	0	G	70924239	T	G	70924239	3	3	389	1	0	0	0	0	1	0	0	0	243	1696	59	5	25	5	ADAM21	14	70924239	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	23497535	70924239	36425301	267	74952											
ZFYVE1	53349	broad.mit.edu	37	chr14	73464705	73464705	+	Missense_Mutation	SNP	G	G	T																															gttatgcagccggtctgcatGagttcgatagatgacgaggt																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:73464705G>T	ENST00000556143.1	-	3	1522	c.802C>A	c.(802-804)Cat>Aat	p.H268N	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H268N|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H268N	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	268						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CGGTCTGCATGAGTTCGATAG	0.552													7	54					0.0381472	0.0389051	1	0	T	73464705	G	T	73464705	3	4	389	1	0	0	0	0	1	0	0	0	17758	1290	45	2	1571	2	ZFYVE1	14	73464705	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2540466	73464705	33884835	268	74953	1009	2									
ZFYVE1	53349	broad.mit.edu	37	chr14	73464706	73464706	+	Silent	SNP	A	A	T																															ttatgcagccggtctgcatgAgttcgatagatgacgaggtc																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:73464706A>T	ENST00000556143.1	-	3	1521	c.801T>A	c.(799-801)acT>acA	p.T267T	ZFYVE1_ENST00000318876.5_Silent_p.T267T|ZFYVE1_ENST00000553891.1_Silent_p.T267T	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	267						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGTCTGCATGAGTTCGATAGA	0.547													7	55					0	0	0	0	T	73464706	A	T	73464706	2	4	389	1	0	0	0	0	0	0	0	1	17758	291	11	5		5	ZFYVE1	14	73464706	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1	73464706	33884834	269	74954	1009	2									
ACOT1	641371	broad.mit.edu	37	chr14	74008367	74008367	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctggagtactttgaaGaagctgtgaactacttgctc	10	13	9	9	0	1	3	0	2	1	1	3	4	2	4	1	1	5	3	1	1	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:74008367G>T	ENST00000311148.4	+	2	936	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Nonsense_Mutation_p.E210*|HEATR4_ENST00000560393.1_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GTACTTTGAAGAAGCTGTGAA	0.463													9	34					7.48243e-07	8.57787e-07	1	0	T	74008367	G	T	74008367	4	4	389	1	0	0	0	0	0	1	0	0	148	943	33	2	634	2	ACOT1	14	74008367	Nonsense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	543661	74008367	33341173	270	74955											
BATF	10538	broad.mit.edu	37	chr14	75991484	75991484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaatcgtattgccgccCagaagagccgacagaggcag	15	4	12	10	3	0	4	0	0	0	4	1	5	0	4	3	1	2	2	3	1	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:75991484C>A	ENST00000286639.6	+	2	379	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Missense_Mutation_p.Q41K	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	41						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		TATTGCCGCCCAGAAGAGCCG	0.537													3	17					0.00024832	0.000267422	1	0	A	75991484	C	A	75991484	3	1	389	1	0	0	0	0	1	0	0	0	1329	595	21	4	127	4	BATF	14	75991484	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1983117	75991484	31358056	271	74956											
ANGEL1	23357	broad.mit.edu	37	chr14	77275617	77275617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggggatagctgcccacatgGagccctccaccccctccacc	7	6	9	19	0	0	0	0	0	0	0	2	2	2	2	7	3	3	1	7	3	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:77275617G>A	ENST00000251089.2	-	2	546	c.434C>T	c.(433-435)tCc>tTc	p.S145F	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	145										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGCCCACATGGAGCCCTCCAC	0.632													20	16					0	0	0	0	A	77275617	G	A	77275617	3	1	389	1	0	0	0	0	1	0	0	0	608	1174	41	2	1614	2	ANGEL1	14	77275617	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1284133	77275617	30073923	272	74957											
EML5	161436	broad.mit.edu	37	chr14	89171267	89171268	+	Frame_Shift_Ins	INS	-	-	T																															tcttcttttagaagtagcacINSttttttgtttctctttgcac																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:89171267_89171268insT	ENST00000554922.1	-	13	2235_2236	c.1987_1988insA	c.(1987-1989)tgcfs	p.C663fs	EML5_ENST00000380664.5_Frame_Shift_Ins_p.C663fs|EML5_ENST00000352093.5_Frame_Shift_Ins_p.C663fs	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	663						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGAAGTAGCACTTTTTTGTTTC	0.302													12	38	---	---	---	---					T	89171268	-	T	89171267	7	5	389	1	0	1	1	0	0	0	0	0	5138	565	20	0	4069	0	EML5	14	89171267	Frame_Shift_Ins	INS	-	TCGA-DQ-7589-01A-11D-2229-08	11895650	89171267	18178273	273	74958											
ADSSL1	122622	broad.mit.edu	37	chr14	105207184	105207184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttgtgcagattcaagaAcctggcccaccagcaccagt	10	8	8	15	0	1	2	1	0	0	2	2	2	2	2	5	1	3	2	5	1	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:105207184A>G	ENST00000332972.5	+	7	881	c.722A>G	c.(721-723)aAc>aGc	p.N241S	ADSSL1_ENST00000330877.2_Missense_Mutation_p.N198S	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	198					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGATTCAAGAACCTGGCCCAC	0.587													5	375					0	0	0	0	G	105207184	A	G	105207184	3	3	389	1	0	0	0	0	1	0	0	0	348	43	2	5	944	5	ADSSL1	14	105207184	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	16035917	105207184	2142356	274	74959											
JAG2	3714	broad.mit.edu	37	chr14	105618508	105618508	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaccactacctttgtcacaGagcaggccgccccagttggt	8	9	9	15	1	1	1	1	0	0	1	1	1	1	1	5	2	3	2	5	2	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:105618508G>C	ENST00000331782.3	-	6	1312	c.909C>G	c.(907-909)ctC>ctG	p.L303L	JAG2_ENST00000347004.2_Silent_p.L303L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	303	EGF-like 2; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTTTGTCACAGAGCAGGCCGC	0.637													59	103					0	0	0	0	C	105618508	G	C	105618508	2	2	389	1	0	0	0	0	0	0	0	1	7988	929	33	2		2	JAG2	14	105618508	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	411324	105618508	1731032	275	74960											
OR4M2	390538	broad.mit.edu	37	chr15	22368966	22368966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatctgccgacccctcCactatgctaccatcatgaat	9	11	5	16	1	2	1	1	1	1	0	3	2	3	1	5	0	4	2	5	0	4	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:22368966C>G	ENST00000332663.2	+	1	489	c.391C>G	c.(391-393)Cac>Gac	p.H131D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCGACCCCTCCACTATGCTAC	0.507													44	268					0	0	0	0	G	22368966	C	G	22368966	3	3	389	1	0	0	0	0	1	0	0	0	11147	594	21	4	393	4	OR4M2	15	22368966	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		22368966	80162426	276	74961											
OR4M2	390538	broad.mit.edu	37	chr15	22369079	22369079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcattgttcgacttcctttCtgtgggcccaatgagttaga	7	15	9	10	1	2	2	1	1	1	1	4	3	3	2	2	1	0	2	2	1	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:22369079C>G	ENST00000332663.2	+	1	602	c.504C>G	c.(502-504)ttC>ttG	p.F168L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(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)		GACTTCCTTTCTGTGGGCCCA	0.493													11	374					0	0	0	0	G	22369079	C	G	22369079	3	3	389	1	0	0	0	0	1	0	0	0	11147	912	32	2	506	2	OR4M2	15	22369079	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	113	22369079	80162313	277	74962											
ATP10A	57194	broad.mit.edu	37	chr15	25926007	25926007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaaagtgagcagcgcgaTtgtcacaataggggtccccc	11	6	13	11	2	1	1	1	1	0	0	2	3	2	2	2	3	2	1	2	3	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:25926007T>C	ENST00000356865.6	-	19	3739	c.3628A>G	c.(3628-3630)Atc>Gtc	p.I1210V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1210					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCAGCGCGATTGTCACAATA	0.567													14	138					0	0	0	0	C	25926007	T	C	25926007	3	2	389	1	0	0	0	0	1	0	0	0	1120	1493	52	5	883	5	ATP10A	15	25926007	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	3556928	25926007	76605385	278	74963											
HERC2	8924	broad.mit.edu	37	chr15	28377282	28377282	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccatcgctgcctccccgGccgagcttgccgtagtcccc	4	7	10	20	4	0	0	0	0	0	0	3	1	2	0	8	1	4	3	8	1	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:28377282G>A	ENST00000261609.7	-	81	12642	c.12534C>T	c.(12532-12534)ggC>ggT	p.G4178G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4178					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCCTCCCCGGCCGAGCTTGC	0.632													3	16					0	0	0	0	A	28377282	G	A	28377282	2	1	389	1	0	0	0	0	0	0	0	1	7108	1190	42	4		4	HERC2	15	28377282	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2451275	28377282	74154110	279	74964											
OTUD7A	161725	broad.mit.edu	37	chr15	31794041	31794041	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatgggatgggtgcgaaCgctgtggacacaaaccaggg	11	5	16	9	3	0	0	0	0	0	0	0	4	0	2	2	4	3	1	2	4	3	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:31794041C>G	ENST00000382902.1	-	8	1115	c.1021_splice	c.e8-1	p.A341_splice	OTUD7A_ENST00000307050.4_Splice_Site_p.A334_splice			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	334	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.A334A(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGGGTGCGAACGCTGTGGACA	0.632													26	36					0	0	0	0	G	31794041	C	G	31794041	5	3	389	1	0	0	0	0	0	0	1	0	11389	550	19	3	1794	3	OTUD7A	15	31794041	Splice_Site	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	3416759	31794041	70737351	280	74965											
DISP2	85455	broad.mit.edu	37	chr15	40661541	40661541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtttgcggcaggcgtgctCatgctgcctgccacagtgct	4	11	13	13	2	1	0	1	0	0	0	1	0	1	0	2	2	6	5	2	2	0	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:40661541C>T	ENST00000267889.3	+	8	3315	c.3228C>T	c.(3226-3228)ctC>ctT	p.L1076L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1076					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGGCGTGCTCATGCTGCCTG	0.617													15	56					0	0	0	0	T	40661541	C	T	40661541	2	4	389	1	0	0	0	0	0	0	0	1	4577	813	29	2		2	DISP2	15	40661541	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8867500	40661541	61869851	281	74966											
VPS39	23339	broad.mit.edu	37	chr15	42481357	42481357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccctttgcctttgaaacCgtagtgatttgttgaaatgt	8	16	9	8	1	0	3	0	3	0	0	1	3	1	3	3	0	2	3	3	0	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:42481357C>T	ENST00000318006.5	-	5	459	c.297G>A	c.(295-297)acG>acA	p.T99T	VPS39_ENST00000348544.4_Silent_p.T110T	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	110	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTTTGAAACCGTAGTGATTT	0.368													4	57					0	0	0	0	T	42481357	C	T	42481357	2	4	389	1	0	0	0	0	0	0	0	1	17305	639	23	1		1	VPS39	15	42481357	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1819816	42481357	60050035	282	74967											
DMXL2	23312	broad.mit.edu	37	chr15	51857347	51857347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgcccagttttaagcCactggcacttgagttgctga	11	11	9	10	0	0	2	0	2	0	0	0	2	0	2	2	1	4	4	2	1	3	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:51857347C>A	ENST00000251076.5	-	4	589	c.302G>T	c.(301-303)tGg>tTg	p.W101L	DMXL2_ENST00000449909.3_Missense_Mutation_p.W101L|DMXL2_ENST00000543779.2_Missense_Mutation_p.W101L|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	101						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGTTTTAAGCCACTGGCACTT	0.289													8	15					0.000157383	0.000171085	1	0	A	51857347	C	A	51857347	3	1	389	1	0	0	0	0	1	0	0	0	4632	595	21	4	8971	4	DMXL2	15	51857347	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	9375990	51857347	50674045	283	74968											
MYO5C	55930	broad.mit.edu	37	chr15	52497340	52497340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatactccagcattccCggaactgcggagagacaggg	10	7	11	13	2	1	1	1	0	1	1	4	4	3	3	2	3	4	1	2	3	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:52497340C>T	ENST00000261839.7	-	38	4703	c.4542G>A	c.(4540-4542)ccG>ccA	p.P1514P	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1514	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCAGCATTCCCGGAACTGCGG	0.587													4	75					0	0	0	0	T	52497340	C	T	52497340	2	4	389	1	0	0	0	0	0	0	0	1	10150	639	23	1		1	MYO5C	15	52497340	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	639993	52497340	50034052	284	74969											
MYO5C	55930	broad.mit.edu	37	chr15	52567814	52567814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacgtgagcgttgctgcccGatttgctgacggtggcaaag	7	9	14	11	4	0	2	0	2	0	0	0	3	0	2	2	2	4	4	2	2	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:52567814G>A	ENST00000261839.7	-	5	712	c.551C>T	c.(550-552)tCg>tTg	p.S184L	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Missense_Mutation_p.S127L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	184	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GTTGCTGCCCGATTTGCTGAC	0.542													8	84					0	0	0	0	A	52567814	G	A	52567814	3	1	389	1	0	0	0	0	1	0	0	0	10150	1059	37	1	4825	1	MYO5C	15	52567814	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	70474	52567814	49963578	285	74970											
RAB27A	5873	broad.mit.edu	37	chr15	55516120	55516120	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgctatggcttcctccTctttcactactctctggtcc	4	15	7	15	1	3	0	1	0	2	0	7	1	6	0	3	2	2	2	3	2	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:55516120T>A	ENST00000396307.2	-	5	685	c.434A>T	c.(433-435)gAg>gTg	p.E145V	RAB27A_ENST00000336787.1_Missense_Mutation_p.E145V|RAB27A_ENST00000569493.1_Missense_Mutation_p.E145V|RAB27A_ENST00000564609.1_Missense_Mutation_p.E145V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	145					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GGCTTCCTCCTCTTTCACTAC	0.398													26	140					0	0	0	0	A	55516120	T	A	55516120	3	1	389	1	0	0	0	0	1	0	0	0	12996	1551	54	5	239	5	RAB27A	15	55516120	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	2948306	55516120	47015272	286	74971											
VPS13C	54832	broad.mit.edu	37	chr15	62237966	62237966	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatctgaatacaacccactTtaaaactaagtttgccgtct	14	12	4	11	1	2	1	0	1	2	0	2	1	2	1	2	0	4	1	2	0	7	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:62237966T>G	ENST00000261517.5	-	45	5169	c.5096A>C	c.(5095-5097)aAa>aCa	p.K1699T	VPS13C_ENST00000395896.4_Missense_Mutation_p.K1699T|VPS13C_ENST00000249837.3_Missense_Mutation_p.K1656T|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1656T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1699					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACAACCCACTTTAAAACTAAG	0.353													23	144					0	0	0	0	G	62237966	T	G	62237966	3	3	389	1	0	0	0	0	1	0	0	0	17287	1841	64	5	6357	5	VPS13C	15	62237966	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	6721846	62237966	40293426	287	74972											
USP3	9960	broad.mit.edu	37	chr15	63855163	63855163	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagactgcatttagcccAgagtccttattttatgttgt	9	15	8	9	0	0	2	0	0	0	2	1	2	1	2	3	0	3	2	3	0	3	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:63855163A>G	ENST00000268049.7	+	9	975	c.651A>G	c.(649-651)ccA>ccG	p.P217P	USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Silent_p.P150P|USP3_ENST00000558285.1_Silent_p.P222P|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Silent_p.P195P|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000380324.3_Silent_p.P239P|USP3-AS1_ENST00000560350.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	239					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CATTTAGCCCAGAGTCCTTAT	0.363													51	75					0	0	0	0	G	63855163	A	G	63855163	2	3	389	1	0	0	0	0	0	0	0	1	17156	175	7	5		5	USP3	15	63855163	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1617197	63855163	38676229	288	74973											
IGDCC3	9543	broad.mit.edu	37	chr15	65625630	65625630	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgtgccgttctcctcAcccgggtgccaggtctgttg	2	11	13	15	2	3	0	1	0	2	0	4	0	3	0	5	3	2	2	5	3	0	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:65625630A>T	ENST00000327987.4	-	6	1198	c.947T>A	c.(946-948)gTg>gAg	p.V316E	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	316	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCTCCTCACCCGGGTGCC	0.632													8	34					0	0	0	0	T	65625630	A	T	65625630	3	4	389	1	0	0	0	0	1	0	0	0	7621	159	6	5	1533	5	IGDCC3	15	65625630	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1770467	65625630	36905762	289	74974											
FSD2	123722	broad.mit.edu	37	chr15	83451695	83451695	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccctagagcttgtattTtttcctcatatttttgagca	7	19	5	10	0	2	2	1	1	1	1	4	2	3	2	3	0	2	3	3	0	3	9			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:83451695T>A	ENST00000334574.8	-	4	999	c.818A>T	c.(817-819)aAa>aTa	p.K273I	FSD2_ENST00000541889.1_Missense_Mutation_p.K273I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	273										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGCTTGTATTTTTTCCTCATA	0.383													15	187					0	0	0	0	A	83451695	T	A	83451695	3	1	389	1	0	0	0	0	1	0	0	0	6119	1841	64	5	1471	5	FSD2	15	83451695	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	17826065	83451695	19079697	290	74975											
RHOT2	89941	broad.mit.edu	37	chr16	721166	721166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcggcgcttcggctacagcGatgccctggagctgactgcg	5	8	15	13	5	0	1	0	1	0	0	1	3	0	2	1	3	6	3	1	3	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:721166G>A	ENST00000315082.4	+	11	946	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	278					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CGGCTACAGCGATGCCCTGGA	0.637													13	76					0	0	0	0	A	721166	G	A	721166	3	1	389	1	0	0	0	0	1	0	0	0	13427	1058	37	1	874	1	RHOT2	16	721166	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08		721166	89633587	291	74976											
PKD1	5310	broad.mit.edu	37	chr16	2161869	2161869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacggtcaggaggtacTcacctgtggggacaggcccg	8	5	15	13	2	2	0	2	0	0	0	2	2	2	2	3	6	2	2	3	6	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:2161869T>C	ENST00000262304.4	-	15	3507	c.3299A>G	c.(3298-3300)gAg>gGg	p.E1100G	PKD1_ENST00000423118.1_Missense_Mutation_p.E1100G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1100	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGAGGTACTCACCTGTGGG	0.706													4	31					0	0	0	0	C	2161869	T	C	2161869	3	2	389	1	0	0	0	0	1	0	0	0	12035	1551	54	5	9740	5	PKD1	16	2161869	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	1440703	2161869	88192884	292	74977											
E4F1	1877	broad.mit.edu	37	chr16	2284186	2284186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggccgaggccgttcGcctgcgcgcagtgtggcaag	5	6	17	13	5	0	0	0	0	0	0	1	1	0	0	3	3	2	4	3	3	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:2284186G>A	ENST00000301727.4	+	10	1438	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.A464T	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	464	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCCGTTCGCCTGCGCGCA	0.706													6	33					0	0	0	0	A	2284186	G	A	2284186	3	1	389	1	0	0	0	0	1	0	0	0	4910	1087	38	1	1428	1	E4F1	16	2284186	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	122317	2284186	88070567	293	74978											
OTOA	146183	broad.mit.edu	37	chr16	21747666	21747666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggctgtctttcagtctGttcggaacagcagtgataag	8	13	12	8	1	4	1	1	1	3	0	5	2	4	2	0	2	2	3	0	2	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:21747666G>T	ENST00000388958.3	+	21	2387	c.2386G>T	c.(2386-2388)Gtt>Ttt	p.V796F	OTOA_ENST00000286149.4_Missense_Mutation_p.V810F|OTOA_ENST00000388956.4_Missense_Mutation_p.V717F|OTOA_ENST00000388957.3_Missense_Mutation_p.V472F	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	810					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTTTCAGTCTGTTCGGAACAG	0.473													30	22					1.55811e-20	2.12344e-20	1	0	T	21747666	G	T	21747666	3	4	389	1	0	0	0	0	1	0	0	0	11373	1377	48	4	2514	4	OTOA	16	21747666	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	19463480	21747666	68607087	294	74979											
IL21R	50615	broad.mit.edu	37	chr16	27460061	27460061	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccgacagcccagaactcGgggggctcagcttacagtga	9	6	14	12	2	1	2	1	1	0	1	2	3	1	2	2	4	4	2	2	4	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:27460061G>T	ENST00000337929.3	+	9	1547	c.1074G>T	c.(1072-1074)tcG>tcT	p.S358S	IL21R_ENST00000395755.1_Silent_p.S358S|IL21R_ENST00000395754.4_Silent_p.S358S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Silent_p.S358S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	358					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCAGAACTCGGGGGGCTCAG	0.622			T	BCL6	NHL								11	69					0.00010058	0.000110114	1	0	T	27460061	G	T	27460061	2	4	389	1	0	0	0	0	0	0	0	1	7724	1103	39	3		3	IL21R	16	27460061	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	5712395	27460061	62894692	295	74980											
FBRS	64319	broad.mit.edu	37	chr16	30680766	30680766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgtggccgctgcccgcCtctacggtctggaacctgct	3	8	14	16	4	2	0	0	0	2	0	2	1	2	1	5	4	4	2	5	4	2	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:30680766C>A	ENST00000356166.6	+	18	3831	c.2743C>A	c.(2743-2745)Ctc>Atc	p.L915I	FBRS_ENST00000568722.1_Missense_Mutation_p.L307I|FBRS_ENST00000287468.5_Missense_Mutation_p.L395I|FBRS_ENST00000395073.2_Missense_Mutation_p.L307I			Q9HAH7	FBRS_HUMAN	fibrosin	395										ovary(1)	1			Colorectal(24;0.103)			CGCTGCCCGCCTCTACGGTCT	0.682													34	153					2.68265e-12	3.46197e-12	1	0	A	30680766	C	A	30680766	3	1	389	1	0	0	0	0	1	0	0	0	5752	681	24	4	1225	4	FBRS	16	30680766	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	3220705	30680766	59673987	296	74981											
NFATC3	4775	broad.mit.edu	37	chr16	68217251	68217251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaaagccagtctcaaCgttttacttatacaccaggt	15	10	7	9	1	1	0	1	0	1	0	2	1	1	1	2	2	4	1	2	2	7	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:68217251C>T	ENST00000349223.5	+	8	2304	c.2080C>T	c.(2080-2082)Cgt>Tgt	p.R694C	NFATC3_ENST00000575270.1_Missense_Mutation_p.R694C|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.R694C|NFATC3_ENST00000329524.4_Missense_Mutation_p.R694C	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	694					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.R694C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCAGTCTCAACGTTTTACTTA	0.383													45	23					0	0	0	0	T	68217251	C	T	68217251	3	4	389	1	0	0	0	0	1	0	0	0	10434	536	19	1	2110	1	NFATC3	16	68217251	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	37536485	68217251	22137502	297	74982											
TMEM231	79583	broad.mit.edu	37	chr16	75576566	75576566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggcaaaggggctggtccCgttgatcacggatatctggg	9	9	15	8	2	2	1	1	1	1	0	3	2	3	2	1	6	0	3	1	6	3	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:75576566C>A	ENST00000398114.2	-	4	723	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	RP11-77K12.7_ENST00000460606.1_Silent_p.T31T|TMEM231_ENST00000258173.6_Missense_Mutation_p.G200W|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000565067.1_Missense_Mutation_p.G152W	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGGCTGGTCCCGTTGATCACG	0.582													4	43					0.00024832	0.000267422	1	0	A	75576566	C	A	75576566	3	1	389	1	0	0	0	0	1	0	0	0	16243	652	23	3	364	3	TMEM231	16	75576566	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	7359315	75576566	14778187	298	74983											
ADAMTS18	170692	broad.mit.edu	37	chr16	77397723	77397723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttgttccagaagaattagGctcaccacaaccacgtttat	12	12	6	11	1	2	2	1	0	1	2	3	2	3	2	3	1	1	3	3	1	5	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:77397723G>T	ENST00000282849.5	-	6	1450	c.1032C>A	c.(1030-1032)agC>agA	p.S344R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	344	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						GAAGAATTAGGCTCACCACAA	0.378													23	17					5.35356e-11	6.73936e-11	1	0	T	77397723	G	T	77397723	3	4	389	1	0	0	0	0	1	0	0	0	263	1194	42	4	2705	4	ADAMTS18	16	77397723	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1821157	77397723	12957030	299	74984											
ZFP3	124961	broad.mit.edu	37	chr17	4995441	4995441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagttcacaccttattcaCcatcatagaattcatactgg	13	12	5	11	0	4	2	4	0	0	2	4	2	4	2	2	1	1	1	2	1	4	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:4995441C>G	ENST00000318833.3	+	2	978	c.642C>G	c.(640-642)caC>caG	p.H214Q		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ACCTTATTCACCATCATAGAA	0.408													10	91					0	0	0	0	G	4995441	C	G	4995441	3	3	389	1	0	0	0	0	1	0	0	0	17738	506	18	4	644	4	ZFP3	17	4995441	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		4995441	76199769	300	74985											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			28	10					1.17739e-12	1.53227e-12	1	0	A	7577120	C	A	7577120	3	1	389	1	0	0	0	0	1	0	0	0	16476	536	19	3	468	3	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2581679	7577120	73618090	301	74986											
MYH4	4622	broad.mit.edu	37	chr17	10355409	10355409	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctgcgtgcttcttccgaAgagcagctgccgtggcttcg	5	12	12	12	4	2	1	0	0	2	1	4	2	3	1	2	1	5	4	2	1	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:10355409A>T	ENST00000255381.2	-	27	3697	c.3587T>A	c.(3586-3588)cTt>cAt	p.L1196H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1196					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTTCCGAAGAGCAGCTGC	0.562													6	114					0	0	0	0	T	10355409	A	T	10355409	3	4	389	1	0	0	0	0	1	0	0	0	10107	72	3	5	2288	5	MYH4	17	10355409	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	2778289	10355409	70839801	302	74987											
MYH3	4621	broad.mit.edu	37	chr17	10554923	10554923	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtagccttccaccacctcGgggttgtacaccggcagcca	7	7	11	16	3	0	0	0	0	0	0	2	0	1	0	6	4	3	4	6	4	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:10554923G>T	ENST00000583535.1	-	5	498	c.411C>A	c.(409-411)ccC>ccA	p.P137P	MYH3_ENST00000226209.7_Silent_p.P137P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	137	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCACCACCTCGGGGTTGTACA	0.537													16	120					2.32078e-09	2.83651e-09	1	0	T	10554923	G	T	10554923	2	4	389	1	0	0	0	0	0	0	0	1	10106	1103	39	3		3	MYH3	17	10554923	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	199514	10554923	70640287	303	74988											
LIG3	3980	broad.mit.edu	37	chr17	33329057	33329057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgtgtcccgcaaggccCccagcaagccctcagccagt	7	6	10	18	1	1	0	1	0	0	0	2	0	2	0	5	1	4	3	5	1	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:33329057C>A	ENST00000378526.4	+	18	2741	c.2608C>A	c.(2608-2610)Ccc>Acc	p.P870T	LIG3_ENST00000262327.5_Missense_Mutation_p.P870T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	870					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCGCAAGGCCCCCAGCAAGCC	0.557								Other BER factors					14	15					1.5739e-10	1.95468e-10	1	0	A	33329057	C	A	33329057	3	1	389	1	0	0	0	0	1	0	0	0	8836	623	22	4	2674	4	LIG3	17	33329057	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	22774134	33329057	47866153	304	74989											
GAS2L2	246176	broad.mit.edu	37	chr17	34072965	34072965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtagcaccaggaaagctCcttcctggtgttggggggcg	6	10	15	10	1	0	0	0	0	0	0	2	1	2	1	3	5	2	4	3	5	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:34072965C>A	ENST00000254466.6	-	6	1578	c.1551G>T	c.(1549-1551)agG>agT	p.R517S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R501S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	517					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGGAAAGCTCCTTCCTGGTG	0.612													21	40					1.01871e-10	1.26859e-10	1	0	A	34072965	C	A	34072965	3	1	389	1	0	0	0	0	1	0	0	0	6296	854	30	2	1095	2	GAS2L2	17	34072965	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	743908	34072965	47122245	305	74990											
CCL16	6360	broad.mit.edu	37	chr17	34304698	34304698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaggtaggttgggatcCttgatgtactcttggaccca	10	11	12	8	0	1	1	0	1	1	0	2	3	2	3	2	4	2	4	2	4	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:34304698C>T	ENST00000293275.3	-	3	342	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	89					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTTGGGATCCTTGATGTACT	0.507													45	68					0	0	0	0	T	34304698	C	T	34304698	2	4	389	1	0	0	0	0	0	0	0	1	2914	680	24	4		4	CCL16	17	34304698	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	231733	34304698	46890512	306	74991											
NEUROD2	4761	broad.mit.edu	37	chr17	37761975	37761975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgagcgggccctcgtactcgGagctgttgtagtccgggctc	4	10	15	12	4	0	1	0	1	0	0	4	2	1	2	2	3	3	5	2	3	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:37761975G>C	ENST00000302584.4	-	2	1098	c.878C>G	c.(877-879)tCc>tGc	p.S293C		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	293					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CTCGTACTCGGAGCTGTTGTA	0.677													9	16					0	0	0	0	C	37761975	G	C	37761975	3	2	389	1	0	0	0	0	1	0	0	0	10419	1174	41	2	274	2	NEUROD2	17	37761975	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	3457277	37761975	43433235	307	74992											
PPP1R1B	84152	broad.mit.edu	37	chr17	37791870	37791870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccagctgggcaaaaGacaacctgtggccagggtct	10	6	11	14	0	1	1	0	0	1	1	2	1	2	1	5	3	2	2	5	3	3	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:37791870G>T	ENST00000254079.4	+	6	925	c.456G>T	c.(454-456)aaG>aaT	p.K152N	PPP1R1B_ENST00000580825.1_Missense_Mutation_p.K152N|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.K119N|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.K116N|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.K116N	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	152					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGGCAAAAGACAACCTGTG	0.587													56	741					4.17328e-34	6.02518e-34	1	0	T	37791870	G	T	37791870	3	4	389	1	0	0	0	0	1	0	0	0	12444	933	33	2	478	2	PPP1R1B	17	37791870	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	29895	37791870	43403340	308	74993											
PPP1R1B	84152	broad.mit.edu	37	chr17	37791949	37791949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagagagatggaggctctGaggaccaagtggaagaccca	13	4	15	9	1	1	4	0	1	1	3	1	9	1	7	3	4	0	1	3	4	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:37791949G>A	ENST00000254079.4	+	6	1004	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PPP1R1B_ENST00000580825.1_Missense_Mutation_p.E179K|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.E146K|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.E143K|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.E143K	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	179					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGAGGCTCTGAGGACCAAGT	0.632													42	472					0	0	0	0	A	37791949	G	A	37791949	3	1	389	1	0	0	0	0	1	0	0	0	12444	1291	45	2	557	2	PPP1R1B	17	37791949	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	79	37791949	43403261	309	74994											
KRT36	8689	broad.mit.edu	37	chr17	39642758	39642758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaggggacacagggcAccggggggacagaaggaact	13	1	18	9	1	0	2	0	0	0	2	0	5	0	5	1	7	1	2	1	7	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:39642758A>G	ENST00000393986.2	-	8	1336	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A	KRT36_ENST00000328119.6_Missense_Mutation_p.V425A			O76013	KRT36_HUMAN	keratin 36	425	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GACACAGGGCACCGGGGGGAC	0.582													7	20					0	0	0	0	G	39642758	A	G	39642758	3	3	389	1	0	0	0	0	1	0	0	0	8525	159	6	5	133	5	KRT36	17	39642758	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1850809	39642758	41552452	310	74995											
NAGLU	4669	broad.mit.edu	37	chr17	40693136	40693136	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccacatctatggggcCgacactttcaatgagatgca	13	8	9	11	1	2	2	1	1	1	2	2	4	2	2	2	2	1	1	2	2	2	2	rs115888189	byFrequency	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:40693136C>T	ENST00000225927.2	+	5	1034	c.933C>T	c.(931-933)gcC>gcT	p.A311A	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	311						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TCTATGGGGCCGACACTTTCA	0.572													11	85					0	0	0	0	T	40693136	C	T	40693136	2	4	389	1	0	0	0	0	0	0	0	1	10213	639	23	1		1	NAGLU	17	40693136	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1050378	40693136	40502074	311	74996											
EPB41L3	23136	broad.mit.edu	37	chr18	5416372	5416372	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagtcagtgccaagcccAggtgactgatgtgaaagaga	13	7	13	8	0	1	5	1	4	0	1	1	6	1	5	2	1	2	0	2	1	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:5416372A>T	ENST00000341928.2	-	13	1852	c.1512T>A	c.(1510-1512)ccT>ccA	p.P504P	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Silent_p.P504P|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	504	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			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						TGCCAAGCCCAGGTGACTGAT	0.473													13	24					0	0	0	0	T	5416372	A	T	5416372	2	4	389	1	0	0	0	0	0	0	0	1	5192	175	7	5		5	EPB41L3	18	5416372	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08		5416372	72660876	312	74997											
CEP192	55125	broad.mit.edu	37	chr18	13042231	13042231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaacagtcccaggcacaGctaagtgaaggatcaattac	16	7	9	9	0	1	2	1	2	0	0	2	3	2	3	1	2	3	2	1	2	6	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:13042231G>A	ENST00000506447.1	+	15	2045	c.1965G>A	c.(1963-1965)caG>caA	p.Q655Q	CEP192_ENST00000430049.2_Silent_p.Q180Q|CEP192_ENST00000325971.8_Silent_p.Q59Q	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	250										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCAGGCACAGCTAAGTGAAG	0.378													10	36					0	0	0	0	A	13042231	G	A	13042231	2	1	389	1	0	0	0	0	0	0	0	1	3280	962	34	4		4	CEP192	18	13042231	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	7625859	13042231	65035017	313	74998											
RNF125	54941	broad.mit.edu	37	chr18	29648307	29648307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccgaagagtcttagaccGgtcacttcttgaatatgtga	11	13	9	8	2	3	4	1	2	2	2	4	5	4	4	2	1	0	0	2	1	5	5	rs147556999		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:29648307G>T	ENST00000217740.3	+	6	1151	c.659G>T	c.(658-660)cGg>cTg	p.R220L	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	220					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GTCTTAGACCGGTCACTTCTT	0.328													7	69					0.000274275	0.000294686	1	0	T	29648307	G	T	29648307	3	4	389	1	0	0	0	0	1	0	0	0	13519	1116	39	3	681	3	RNF125	18	29648307	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	16606076	29648307	48428941	314	74999											
SLC39A6	25800	broad.mit.edu	37	chr18	33706695	33706695	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggtcgtggtcatggtgTatatggattcttttaatctt	7	19	11	4	1	3	1	1	1	2	0	4	2	3	2	0	4	0	1	0	4	3	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:33706695T>A	ENST00000269187.5	-	2	489	c.276A>T	c.(274-276)atA>atT	p.I92I	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Silent_p.I92I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	92	His-rich.					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ggtcatggtgTATATGGATTC	0.423													22	17					0	0	0	0	A	33706695	T	A	33706695	2	1	389	1	0	0	0	0	0	0	0	1	14710	1628	57	5		5	SLC39A6	18	33706695	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	4058388	33706695	44370553	315	75000											
MOCOS	55034	broad.mit.edu	37	chr18	33828899	33828899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattagggatggagcctataGaggtgcctcttgaggaaaat	12	10	13	6	0	1	2	0	1	1	1	1	5	1	5	2	4	2	0	2	4	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:33828899G>A	ENST00000261326.5	+	10	1996	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	659					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGAGCCTATAGAGGTGCCTCT	0.388													11	43					0	0	0	0	A	33828899	G	A	33828899	3	1	389	1	0	0	0	0	1	0	0	0	9759	943	33	2	2013	2	MOCOS	18	33828899	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	122204	33828899	44248349	316	75001											
SLC14A2	8170	broad.mit.edu	37	chr18	43247011	43247011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagggtcagcaaagccCtcagctacatcacaggagag	15	4	12	10	0	3	1	3	0	0	1	3	3	3	2	1	3	4	2	1	3	4	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:43247011C>A	ENST00000255226.6	+	13	2485	c.1669C>A	c.(1669-1671)Ctc>Atc	p.L557I	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L557I|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L34I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	557						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCAAAGCCCTCAGCTACAT	0.473													7	45					8.12818e-05	8.91977e-05	1	0	A	43247011	C	A	43247011	3	1	389	1	0	0	0	0	1	0	0	0	14485	681	24	4	1715	4	SLC14A2	18	43247011	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	9418112	43247011	34830237	317	75002											
MAPK4	5596	broad.mit.edu	37	chr18	48190512	48190512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgcagcatgaagcacGcgctccgagagatcaagatc	12	5	11	13	4	1	3	1	1	0	2	3	5	2	3	2	0	3	4	2	0	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:48190512G>A	ENST00000400384.2	+	2	1220	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	MAPK4_ENST00000592595.1_Missense_Mutation_p.A62T|MAPK4_ENST00000588540.1_Missense_Mutation_p.A62T|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	62	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CATGAAGCACGCGCTCCGAGA	0.612													13	30					0	0	0	0	A	48190512	G	A	48190512	3	1	389	1	0	0	0	0	1	0	0	0	9349	1087	38	1	186	1	MAPK4	18	48190512	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4943501	48190512	29886736	318	75003											
DCC	1630	broad.mit.edu	37	chr18	50918220	50918220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgactttacaccgtccGgtggagaaccagcttttctg	7	11	12	11	3	1	1	0	0	1	1	2	3	2	1	3	3	4	1	3	3	2	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:50918220G>A	ENST00000442544.2	+	17	3267	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	DCC_ENST00000581580.1_Missense_Mutation_p.R519Q|DCC_ENST00000412726.1_Missense_Mutation_p.R712Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	884	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TACACCGTCCGGTGGAGAACC	0.438													17	27					0	0	0	0	A	50918220	G	A	50918220	3	1	389	1	0	0	0	0	1	0	0	0	4314	1116	39	1	2717	1	DCC	18	50918220	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2727708	50918220	27159028	319	75004											
NFATC1	4772	broad.mit.edu	37	chr18	77246788	77246788	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggccgcccgcagcaccTgccgtccacggtccgcaggg	5	3	14	19	6	0	0	0	0	0	0	2	0	2	0	6	3	2	3	6	3	0	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:77246788T>A	ENST00000329101.4	+	9	2650	c.2594T>A	c.(2593-2595)cTg>cAg	p.L865Q	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.L878Q|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.L406Q|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000397790.2_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	878	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCAGCACCTGCCGTCCACG	0.701													14	34					0	0	0	0	A	77246788	T	A	77246788	3	1	389	1	0	0	0	0	1	0	0	0	10431	1580	55	5	2818	5	NFATC1	18	77246788	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	26328568	77246788	830460	320	75005											
SHC2	25759	broad.mit.edu	37	chr19	418985	418985	+	Frame_Shift_Del	DEL	G	G	-																															tcactctcggcggccacgatGggctgcccgttctgcaggtg																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:418985delG	ENST00000264554.6	-	12	1691	c.1692delC	c.(1690-1692)ccfs	p.P564fs		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	564	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCACGATGGGCTGCCCGT	0.667													2	4	---	---	---	---					-	418985	G	-	418985	7	5	389	1	0	1	0	1	0	0	0	0	14359	1335	47	0	60	0	SHC2	19	418985	Frame_Shift_Del	DEL	G	TCGA-DQ-7589-01A-11D-2229-08		418985	58709998	321	75006											
ANKRD24	170961	broad.mit.edu	37	chr19	4210077	4210077	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctatgtccagccatggaaAgcagggggcccccaagaagc	11	5	12	13	0	1	1	0	0	1	1	2	2	2	2	4	3	3	1	4	3	4	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:4210077A>T	ENST00000600132.1	+	12	1169	c.893A>T	c.(892-894)aAg>aTg	p.K298M	ANKRD24_ENST00000318934.4_Missense_Mutation_p.K298M|ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000262970.5_Missense_Mutation_p.K388M	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	298										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGCCATGGAAAGCAGGGGGCC	0.662													3	20					0	0	0	0	T	4210077	A	T	4210077	3	4	389	1	0	0	0	0	1	0	0	0	653	72	3	5	935	5	ANKRD24	19	4210077	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	3791092	4210077	54918906	322	75007											
SNAPC2	6618	broad.mit.edu	37	chr19	7987524	7987524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcaccagaggagacccccCcagccaccgagaaggccgag	12	0	13	16	2	0	3	0	0	0	3	0	6	0	3	7	3	1	1	7	3	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:7987524C>T	ENST00000221573.6	+	5	931	c.880C>T	c.(880-882)Cca>Tca	p.P294S	SNAPC2_ENST00000597584.1_Missense_Mutation_p.P57S	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	294					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGAGACCCCCCCAGCCACCGA	0.672													16	53					0	0	0	0	T	7987524	C	T	7987524	3	4	389	1	0	0	0	0	1	0	0	0	14923	623	22	4	898	4	SNAPC2	19	7987524	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	3777447	7987524	51141459	323	75008											
MARCH2	51257	broad.mit.edu	37	chr19	8486786	8486786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgactgctccggcagccctgCcttctccaaggtcgtggagg	5	9	13	14	2	1	1	0	1	1	0	4	2	2	2	4	4	3	2	4	4	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:8486786C>A	ENST00000602117.1	+	2	517	c.62C>A	c.(61-63)gCc>gAc	p.A21D	MARCH2_ENST00000601283.1_Missense_Mutation_p.A21D|MARCH2_ENST00000215555.2_Missense_Mutation_p.A21D|MARCH2_ENST00000393944.1_Missense_Mutation_p.A21D|MARCH2_ENST00000381035.4_Missense_Mutation_p.A21D			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	21					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GGCAGCCCTGCCTTCTCCAAG	0.682													4	53					0.00024832	0.000267422	1	0	A	8486786	C	A	8486786	3	1	389	1	0	0	0	0	1	0	0	0	9370	739	26	4	64	4	MARCH2	19	8486786	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	499262	8486786	50642197	324	75009											
DNM2	1785	broad.mit.edu	37	chr19	10935748	10935748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcagaaaacgaggatGgggcccaggagaacaccttc	13	4	14	10	1	0	2	0	0	0	2	1	5	0	3	2	5	3	2	2	5	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:10935748G>A	ENST00000314646.5	+	18	2073	c.1909G>A	c.(1909-1911)Ggg>Agg	p.G637R	DNM2_ENST00000355667.6_Missense_Mutation_p.G637R|DNM2_ENST00000585892.1_Missense_Mutation_p.G637R|DNM2_ENST00000408974.4_Missense_Mutation_p.G633R|DNM2_ENST00000389253.4_Missense_Mutation_p.G637R|DNM2_ENST00000359692.6_Missense_Mutation_p.G633R			P50570	DYN2_HUMAN	dynamin 2	637					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AAACGAGGATGGGGCCCAGGA	0.597			"F, N, Splice, Mis, O"		ETP ALL								9	80					0	0	0	0	A	10935748	G	A	10935748	3	1	389	1	0	0	0	0	1	0	0	0	4708	1348	47	4	2122	4	DNM2	19	10935748	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2448962	10935748	48193235	325	75010											
DOCK6	57572	broad.mit.edu	37	chr19	11327707	11327707	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcggtgtttttcagcacCcacagcacacacgccagcaa	10	7	9	15	2	1	0	1	0	0	0	2	0	1	0	2	2	3	5	2	2	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:11327707C>T	ENST00000294618.7	-	30	3788	c.3777G>A	c.(3775-3777)tgG>tgA	p.W1259*	DOCK6_ENST00000319867.7_Nonsense_Mutation_p.W598*	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1259					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTTTCAGCACCCACAGCACAC	0.597													14	4					0	0	0	0	T	11327707	C	T	11327707	4	4	389	1	0	0	0	0	0	1	0	0	4727	624	22	4	2442	4	DOCK6	19	11327707	Nonsense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	391959	11327707	47801276	326	75011											
CYP4F3	4051	broad.mit.edu	37	chr19	15760723	15760723	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctgcccttatcctgcagGaagcccagtgaatatattgc	9	13	8	11	0	1	1	0	1	1	0	2	2	2	2	3	1	4	1	3	1	5	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:15760723G>T	ENST00000221307.7	+	7	696	c.647_splice	c.e7-1	p.E216_splice	CYP4F3_ENST00000585846.1_Splice_Site_p.E216_splice|CYP4F3_ENST00000591058.1_Splice_Site_p.E216_splice|CYP4F3_ENST00000586182.1_Splice_Site_p.E216_splice	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	216					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TATCCTGCAGGAAGCCCAGTG	0.493													10	176					7.48243e-07	8.57787e-07	1	0	T	15760723	G	T	15760723	5	4	389	1	0	0	0	0	0	0	1	0	4222	1188	41	2	670	2	CYP4F3	19	15760723	Splice_Site	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	4433016	15760723	43368260	327	75012											
CHERP	10523	broad.mit.edu	37	chr19	16630505	16630505	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggatgggaggcgccgaattAgaacccagaccagcagagga	13	3	16	9	2	0	3	0	0	0	3	0	7	0	6	3	4	2	1	3	4	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:16630505A>T	ENST00000546361.2	-	16	2635	c.2484T>A	c.(2482-2484)tcT>tcA	p.S828S	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000198939.6_Silent_p.S839S	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	828					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCGCCGAATTAGAACCCAGAC	0.502													43	41					0	0	0	0	T	16630505	A	T	16630505	2	4	389	1	0	0	0	0	0	0	0	1	3365	407	15	5		5	CHERP	19	16630505	Silent	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	869782	16630505	42498478	328	75013											
FAM129C	199786	broad.mit.edu	37	chr19	17664319	17664319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agggactttcacactccctgGagaccgtttcctcccattct	7	12	7	15	1	2	1	1	0	1	1	5	3	5	2	4	2	0	1	4	2	0	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:17664319G>C	ENST00000335393.4	+	16	2179	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	FAM129C_ENST00000601861.1_Missense_Mutation_p.E650Q|FAM129C_ENST00000449408.2_Missense_Mutation_p.E407Q	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	681										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						ACACTCCCTGGAGACCGTTTC	0.542													7	125					0	0	0	0	C	17664319	G	C	17664319	3	2	389	1	0	0	0	0	1	0	0	0	5479	1175	41	2	2220	2	FAM129C	19	17664319	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1033814	17664319	41464664	329	75014											
ZNF429	353088	broad.mit.edu	37	chr19	21713485	21713485	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggtggatgaacccccAggtaggtgagagtgaacaca	14	6	14	7	0	0	3	0	3	0	1	0	6	0	4	2	4	2	1	2	4	4	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:21713485A>T	ENST00000358491.4	+	3	433	c.226_splice	c.e3+1	p.P75_splice	ZNF429_ENST00000597078.1_Splice_Site_p.P75_splice|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATGAACCCCCAGGTAGGTGAG	0.433													17	25					0	0	0	0	T	21713485	A	T	21713485	5	4	389	1	0	0	0	0	0	0	1	0	17997	202	7	5	235	5	ZNF429	19	21713485	Splice_Site	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	4049166	21713485	37415498	330	75015											
ZNF536	9745	broad.mit.edu	37	chr19	30935063	30935063	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgaggagaaccgcctGctgcacgagctggaggagcg	8	4	18	11	5	0	1	0	0	0	1	0	6	0	3	2	3	6	3	2	3	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:30935063G>C	ENST00000355537.3	+	2	741	c.594G>C	c.(592-594)ctG>ctC	p.L198L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAACCGCCTGCTGCACGAGC	0.701													5	15					0	0	0	0	C	30935063	G	C	30935063	2	2	389	1	0	0	0	0	0	0	0	1	18069	1306	46	4		4	ZNF536	19	30935063	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	9221578	30935063	28193920	331	75016											
TSHZ3	57616	broad.mit.edu	37	chr19	31769772	31769772	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttggcggcgacaggagtGacgggttccttcagaggcac	8	9	15	9	3	1	2	1	1	0	1	2	4	2	3	1	5	0	2	1	5	0	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:31769772G>T	ENST00000240587.4	-	2	1254	c.927C>A	c.(925-927)gtC>gtA	p.V309V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	309					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGACAGGAGTGACGGGTTCCT	0.532													53	43					9.22156e-22	1.26796e-21	1	0	T	31769772	G	T	31769772	2	4	389	1	0	0	0	0	0	0	0	1	16720	1277	45	2		2	TSHZ3	19	31769772	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	834709	31769772	27359211	332	75017											
DPY19L3	147991	broad.mit.edu	37	chr19	32954347	32954347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagaaactgcctacaaCttaatacataccattctgtt	16	11	3	11	0	1	1	0	0	1	1	1	1	1	1	3	0	7	1	3	0	7	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:32954347C>A	ENST00000342179.5	+	13	1613	c.1398C>A	c.(1396-1398)aaC>aaA	p.N466K	DPY19L3_ENST00000392250.2_Missense_Mutation_p.N466K|DPY19L3_ENST00000586987.1_Missense_Mutation_p.N466K|DPY19L3_ENST00000590651.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	466						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTGCCTACAACTTAATACATA	0.343													5	54					0.217242	0.218187	1	0	A	32954347	C	A	32954347	3	1	389	1	0	0	0	0	1	0	0	0	4778	564	20	4	1444	4	DPY19L3	19	32954347	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1184575	32954347	26174636	333	75018											
RYR1	6261	broad.mit.edu	37	chr19	38942467	38942467	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacccgctgccagcaggagGagtcccaggccgcccgcatg	7	4	14	16	3	0	1	0	1	0	0	1	3	1	3	5	3	2	3	5	3	0	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:38942467G>T	ENST00000355481.4	+	12	1317	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.E396*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.E396*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	396					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCAGCAGGAGGAGTCCCAGGC	0.632													12	44					0.000978159	0.00104367	1	0	T	38942467	G	T	38942467	4	4	389	1	0	0	0	0	0	1	0	0	13853	1175	41	2	1232	2	RYR1	19	38942467	Nonsense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	5988120	38942467	20186516	334	75019											
SPTBN4	57731	broad.mit.edu	37	chr19	41077931	41077931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttgtcgctccaggtcgtgGgtgagcctgtactgtgtgct	3	14	14	10	2	1	1	0	1	1	0	4	1	2	1	2	2	3	3	2	2	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:41077931G>C	ENST00000352632.3	+	34	7412	c.7326G>C	c.(7324-7326)tgG>tgC	p.W2442C	SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.W1185C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.W2442C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2442	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.W2442C(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGTCGTGGGTGAGCCTGT	0.562													98	299					0	0	0	0	C	41077931	G	C	41077931	3	2	389	1	0	0	0	0	1	0	0	0	15211	1241	43	4	7550	4	SPTBN4	19	41077931	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2135464	41077931	18051052	335	75020											
ZNF526	116115	broad.mit.edu	37	chr19	42729448	42729448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggacggctcacagccCggcatctgccacccacccct	6	4	10	21	4	2	0	1	0	1	0	2	1	2	1	6	4	2	2	6	4	0	0	rs3810150		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:42729448C>G	ENST00000301215.3	+	3	1118	c.893C>G	c.(892-894)cCg>cGg	p.P298R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCTCACAGCCCGGCATCTGCC	0.697													11	39					0	0	0	0	G	42729448	C	G	42729448	3	3	389	1	0	0	0	0	1	0	0	0	18062	652	23	3	895	3	ZNF526	19	42729448	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1651517	42729448	16399535	336	75021											
ZNF285	26974	broad.mit.edu	37	chr19	44891894	44891894	+	Missense_Mutation	SNP	C	C	A																															cgtctgtacaatttctcttcCatgtaaattcccttatatct																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:44891894C>A	ENST00000330997.4	-	4	577	c.513G>T	c.(511-513)atG>atT	p.M171I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.M178I|ZNF285_ENST00000544719.2_Missense_Mutation_p.M171I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ATTTCTCTTCCATGTAAATTC	0.478													39	38					2.45108e-15	3.24469e-15	1	0	A	44891894	C	A	44891894	3	1	389	1	0	0	0	0	1	0	0	0	17917	594	21	4	1263	4	ZNF285	19	44891894	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	2162446	44891894	14237089	337	75022	1010	2									
ZNF285	26974	broad.mit.edu	37	chr19	44891895	44891895	+	Missense_Mutation	SNP	A	A	T																															gtctgtacaatttctcttccAtgtaaattcccttatatctt																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:44891895A>T	ENST00000330997.4	-	4	576	c.512T>A	c.(511-513)aTg>aAg	p.M171K	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.M178K|ZNF285_ENST00000544719.2_Missense_Mutation_p.M171K	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTTCTCTTCCATGTAAATTCC	0.478													39	38					0	0	0	0	T	44891895	A	T	44891895	3	4	389	1	0	0	0	0	1	0	0	0	17917	217	8	5	1264	5	ZNF285	19	44891895	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1	44891895	14237088	338	75023	1010	2									
BCAM	4059	broad.mit.edu	37	chr19	45315535	45315535	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccataccagctggactcccAggggcgcctggtgctggctg	5	7	14	15	1	0	0	0	0	0	0	1	1	1	1	4	5	3	3	4	5	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:45315535A>T	ENST00000391955.1	+	3	364	c.320A>T	c.(319-321)cAg>cTg	p.Q107L	BCAM_ENST00000270233.6_Missense_Mutation_p.Q107L			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	107	Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTGGACTCCCAGGGGCGCCTG	0.711													4	29					0	0	0	0	T	45315535	A	T	45315535	3	4	389	1	0	0	0	0	1	0	0	0	1348	188	7	5	330	5	BCAM	19	45315535	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	423640	45315535	13813448	339	75024											
EXOC3L2	90332	broad.mit.edu	37	chr19	45735052	45735052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacgcattcatcctccaaaCcccgcagggtgccaggggag	9	6	12	14	2	1	1	1	1	0	0	3	2	3	2	5	3	2	2	5	3	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:45735052C>G	ENST00000413988.1	-	2	99	c.59G>C	c.(58-60)gGt>gCt	p.G20A	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.G20A	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	20										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ATCCTCCAAACCCCGCAGGGT	0.607													25	32					0	0	0	0	G	45735052	C	G	45735052	3	3	389	1	0	0	0	0	1	0	0	0	5342	507	18	4	1206	4	EXOC3L2	19	45735052	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	419517	45735052	13393931	340	75025											
C5AR1	728	broad.mit.edu	37	chr19	47823779	47823779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggtggtggcagtggtgGccagtttctttatcttctgg	4	15	16	6	0	3	0	0	0	3	0	3	0	3	0	1	7	0	2	1	7	1	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:47823779G>T	ENST00000355085.3	+	2	767	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	249					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GGCAGTGGTGGCCAGTTTCTT	0.567													7	78					0.00198382	0.00210212	1	0	T	47823779	G	T	47823779	3	4	389	1	0	0	0	0	1	0	0	0	2302	1203	42	4	750	4	C5AR1	19	47823779	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2088727	47823779	11305204	341	75026											
CD33	945	broad.mit.edu	37	chr19	51729135	51729135	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacctgacctgctctgtGtcctgggcctgtgagcaggg	8	9	13	11	0	1	2	0	2	1	0	2	2	2	2	4	2	3	2	4	2	2	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:51729135G>T	ENST00000436584.2	+	2	169	c.114G>T	c.(112-114)gtG>gtT	p.V38V	CD33_ENST00000421133.2_Silent_p.V38V|CD33_ENST00000262262.4_Silent_p.V165V|CD33_ENST00000391796.3_Silent_p.V165V			P20138	CD33_HUMAN	CD33 molecule	165	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCTGCTCTGTGTCCTGGGCCT	0.592													33	70					2.46105e-21	3.37391e-21	1	0	T	51729135	G	T	51729135	2	4	389	1	0	0	0	0	0	0	0	1	3034	1364	48	4		4	CD33	19	51729135	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	3905356	51729135	7399848	342	75027											
FPR1	2357	broad.mit.edu	37	chr19	52249772	52249772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtcacacgaatgataactGgcaatgtgaggagcagagcc	14	7	12	8	1	1	3	1	2	0	1	1	5	1	4	1	2	3	2	1	2	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:52249772G>A	ENST00000595042.1	-	3	617	c.476C>T	c.(475-477)cCa>cTa	p.P159L	FPR1_ENST00000304748.4_Missense_Mutation_p.P159L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	159					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AATGATAACTGGCAATGTGAG	0.532													39	33					0	0	0	0	A	52249772	G	A	52249772	3	1	389	1	0	0	0	0	1	0	0	0	6085	1348	47	4	580	4	FPR1	19	52249772	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	520637	52249772	6879211	343	75028											
ZNF613	79898	broad.mit.edu	37	chr19	52448210	52448210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattccgctggaaatcacaGctcaatgcacatcagaaagc	14	7	8	12	1	3	1	3	0	0	1	4	2	4	2	1	1	3	4	1	1	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:52448210G>A	ENST00000293471.6	+	6	1753	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	ZNF613_ENST00000391794.4_Silent_p.Q322Q|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGAAATCACAGCTCAATGCAC	0.443													26	65					0	0	0	0	A	52448210	G	A	52448210	2	1	389	1	0	0	0	0	0	0	0	1	18133	962	34	4		4	ZNF613	19	52448210	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	198438	52448210	6680773	344	75029											
ZNF350	59348	broad.mit.edu	37	chr19	52468149	52468149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataagacataattgatcacGgaaggcacaaccacattcac	18	7	6	10	1	2	2	2	1	0	1	2	3	2	3	1	2	1	1	1	2	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:52468149G>A	ENST00000243644.4	-	5	1784	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	519					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AATTGATCACGGAAGGCACAA	0.408													14	48					0	0	0	0	A	52468149	G	A	52468149	2	1	389	1	0	0	0	0	0	0	0	1	17958	1103	39	1		1	ZNF350	19	52468149	Silent	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	19939	52468149	6660834	345	75030											
ZNF616	90317	broad.mit.edu	37	chr19	52618461	52618461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtctccagtatgaacagtCtgatgaagtctaagatggac	12	11	10	8	0	3	4	0	3	3	1	4	5	3	5	1	1	1	1	1	1	4	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:52618461C>G	ENST00000600228.1	-	4	2217	c.1956G>C	c.(1954-1956)caG>caC	p.Q652H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATGAACAGTCTGATGAAGTC	0.413													10	97					0	0	0	0	G	52618461	C	G	52618461	3	3	389	1	0	0	0	0	1	0	0	0	18136	912	32	2	393	2	ZNF616	19	52618461	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	150312	52618461	6510522	346	75031											
ZNF578	147660	broad.mit.edu	37	chr19	53014964	53014964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagtcaagccttgcaCgtcatcatagacttcatact	11	13	5	12	1	6	1	6	0	0	1	6	1	6	1	1	0	3	1	1	0	3	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53014964C>A	ENST00000421239.2	+	6	1574	c.1330C>A	c.(1330-1332)Cgt>Agt	p.R444S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGCCTTGCACGTCATCATAG	0.378													13	56					0.000151284	0.000165233	1	0	A	53014964	C	A	53014964	3	1	389	1	0	0	0	0	1	0	0	0	18105	536	19	3	1340	3	ZNF578	19	53014964	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	396503	53014964	6114019	347	75032											
ZNF761	388561	broad.mit.edu	37	chr19	53959845	53959845	+	RNA	SNP	G	G	T																															accttataagtgtaatgagtGtggcaagaactttagtcaga																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53959845G>T	ENST00000454407.1	+	0	2537							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGTAATGAGTGTGGCAAGAAC	0.388													46	56					5.48756e-27	7.77685e-27	1	0	T	53959845	G	T	53959845	1	4	389	0	1	0	0	0	0	0	0	0	18230	1377	48	4		4	ZNF761	19	53959845	RNA	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	944881	53959845	5169138	348	75033	1011	2									
ZNF761	388561	broad.mit.edu	37	chr19	53959847	53959847	+	RNA	SNP	G	G	T																															cttataagtgtaatgagtgtGgcaagaactttagtcagaag																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53959847G>T	ENST00000454407.1	+	0	2539							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAATGAGTGTGGCAAGAACTT	0.393													44	58					1.00001e-27	1.42155e-27	1	0	T	53959847	G	T	53959847	1	4	389	0	1	0	0	0	0	0	0	0	18230	1348	47	4		4	ZNF761	19	53959847	RNA	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	2	53959847	5169136	349	75034	1011	2									
ZNF813	126017	broad.mit.edu	37	chr19	53987073	53987073	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaagcaaaggagtcAgggatggctcttcctcaggt	13	7	14	7	0	3	1	2	0	1	1	4	4	4	4	1	5	1	2	1	5	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53987073A>T	ENST00000396403.4	+	0	125				ZNF813_ENST00000396421.4_De_novo_Start_OutOfFrame	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAAGGAGTCAGGGATGGCTC	0.438													13	58					0	0	0	0	T	53987073	A	T	53987073	1	4	389	1	0	0	0	0	0	0	0	0	18268	203	7	5		5	ZNF813	19	53987073	Translation_Start_Site	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	27226	53987073	5141910	350	75035											
ZNF813	126017	broad.mit.edu	37	chr19	53994064	53994064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatatttctaataactatgGgaataatttccggaattctt	13	16	5	7	1	2	0	0	0	2	0	3	2	3	2	2	2	1	0	2	2	7	9			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53994064G>T	ENST00000396403.4	+	4	706	c.578G>T	c.(577-579)gGg>gTg	p.G193V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATAACTATGGGAATAATTTC	0.363													8	142					0.0381472	0.0389051	1	0	T	53994064	G	T	53994064	3	4	389	1	0	0	0	0	1	0	0	0	18268	1232	43	4	588	4	ZNF813	19	53994064	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	6991	53994064	5134919	351	75036											
NLRP2	55655	broad.mit.edu	37	chr19	55494012	55494012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagaagccggtgcccGtcctcctggggagtttgctg	8	8	15	10	2	0	3	0	0	0	3	2	4	2	4	4	3	3	2	4	3	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:55494012G>C	ENST00000543010.1	+	6	1089	c.946G>C	c.(946-948)Gtc>Ctc	p.V316L	NLRP2_ENST00000537859.1_Missense_Mutation_p.V294L|NLRP2_ENST00000263437.6_Missense_Mutation_p.V313L|NLRP2_ENST00000391721.4_Missense_Mutation_p.V292L|NLRP2_ENST00000427260.2_Missense_Mutation_p.V293L|NLRP2_ENST00000538819.1_Missense_Mutation_p.V292L|NLRP2_ENST00000448584.2_Missense_Mutation_p.V316L|NLRP2_ENST00000339757.7_Missense_Mutation_p.V294L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	316	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCGGTGCCCGTCCTCCTGGG	0.637													11	47					0	0	0	0	C	55494012	G	C	55494012	3	2	389	1	0	0	0	0	1	0	0	0	10547	1145	40	3	964	3	NLRP2	19	55494012	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	1499948	55494012	3634971	352	75037											
SBK2	646643	broad.mit.edu	37	chr19	56041267	56041267	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccgcggcggccaggccgaAccagggctgagggcggtccc	5	2	19	15	5	0	1	0	1	0	0	1	2	1	1	5	7	1	1	5	7	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:56041267A>T	ENST00000413299.1	-	4	917	c.880T>A	c.(880-882)Ttc>Atc	p.F294I	SBK2_ENST00000344158.3_Missense_Mutation_p.F294I	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	294	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCAGGCCGAACCAGGGCTGA	0.741													3	13					0	0	0	0	T	56041267	A	T	56041267	3	4	389	1	0	0	0	0	1	0	0	0	13947	43	2	5	169	5	SBK2	19	56041267	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	547255	56041267	3087716	353	75038											
USP29	57663	broad.mit.edu	37	chr19	57641432	57641432	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgcaccaagaaacaaaAccacttcctttgtccattca	15	9	3	14	0	1	1	1	0	0	1	3	1	3	1	5	0	4	1	5	0	5	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:57641432A>T	ENST00000254181.4	+	4	1843	c.1389A>T	c.(1387-1389)aaA>aaT	p.K463N	USP29_ENST00000598197.1_Missense_Mutation_p.K463N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	463					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAAACAAAACCACTTCCTT	0.368													4	120					0	0	0	0	T	57641432	A	T	57641432	3	4	389	1	0	0	0	0	1	0	0	0	17155	40	2	5	1391	5	USP29	19	57641432	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1600165	57641432	1487551	354	75039											
NINL	22981	broad.mit.edu	37	chr20	25477376	25477376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaactccaggttcctcttCtcggccctctccaggtcctg	6	11	7	17	1	3	0	0	0	3	0	8	0	6	0	5	3	1	1	5	3	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:25477376C>T	ENST00000278886.6	-	10	1306	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	NINL_ENST00000422516.1_Silent_p.E411E	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	411					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTTCCTCTTCTCGGCCCTCT	0.602													11	50					0	0	0	0	T	25477376	C	T	25477376	2	4	389	1	0	0	0	0	0	0	0	1	10490	912	32	2		2	NINL	20	25477376	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		25477376	37548144	355	75040											
NINL	22981	broad.mit.edu	37	chr20	25478944	25478944	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggcccaggtcagctcCagaaggttcaccttctcgtc	8	9	10	14	1	4	1	3	0	1	1	7	1	5	1	3	3	1	2	3	3	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:25478944C>A	ENST00000278886.6	-	9	1144	c.1071G>T	c.(1069-1071)ctG>ctT	p.L357L	NINL_ENST00000422516.1_Silent_p.L357L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	357					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGGTCAGCTCCAGAAGGTTCA	0.602													3	25					6.4e-05	7.04e-05	1	0	A	25478944	C	A	25478944	2	1	389	1	0	0	0	0	0	0	0	1	10490	581	21	4		4	NINL	20	25478944	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1568	25478944	37546576	356	75041											
DEFB118	117285	broad.mit.edu	37	chr20	29960861	29960861	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgatgatattttaacagTaaggttcacgacagactact	14	14	7	6	1	1	3	1	2	0	1	1	4	1	3	0	1	2	2	0	1	5	8			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:29960861T>A	ENST00000253381.2	+	2	293	c.260T>A	c.(259-261)gTa>gAa	p.V87E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	87					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTTTAACAGTAAGGTTCACG	0.458													38	48					0	0	0	0	A	29960861	T	A	29960861	3	1	389	1	0	0	0	0	1	0	0	0	4442	1638	57	5	266	5	DEFB118	20	29960861	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	4481917	29960861	33064659	357	75042											
DNMT3B	1789	broad.mit.edu	37	chr20	31368215	31368215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaacggggcctgcagcgAccagtcctccgactcgcccc	6	5	11	19	5	1	0	1	0	0	0	4	2	3	0	6	2	3	1	6	2	1	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:31368215A>T	ENST00000328111.2	+	2	407	c.86A>T	c.(85-87)gAc>gTc	p.D29V	DNMT3B_ENST00000375623.4_Missense_Mutation_p.D29V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.D29V|DNMT3B_ENST00000353855.2_Missense_Mutation_p.D29V|DNMT3B_ENST00000201963.3_Missense_Mutation_p.D41V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.D29V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.D29V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.D29V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	29	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGCAGCGACCAGTCCTCC	0.642													6	29					0	0	0	0	T	31368215	A	T	31368215	3	4	389	1	0	0	0	0	1	0	0	0	4713	275	10	5	128	5	DNMT3B	20	31368215	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	1407354	31368215	31657305	358	75043											
PTPRT	11122	broad.mit.edu	37	chr20	40979284	40979284	+	Frame_Shift_Del	DEL	G	G	-																															tcacctgacaggagctccccGggactgagcgggtttcagca																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:40979284delG	ENST00000373198.3	-	11	2084	c.1849delC	c.(1849-1851)ggfs	p.R617fs	PTPRT_ENST00000356100.2_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373187.1_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.R617fs	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	617	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGCTCCCCGGGACTGAGCG	0.527													51	73	---	---	---	---					-	40979284	G	-	40979284	7	5	389	1	0	1	0	1	0	0	0	0	12894	1115	39	0	2621	0	PTPRT	20	40979284	Frame_Shift_Del	DEL	G	TCGA-DQ-7589-01A-11D-2229-08	9611069	40979284	22046236	359	75044											
SLC13A3	64849	broad.mit.edu	37	chr20	45192091	45192091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagaggcgaaggcgaTggagttggggggcgttgaga	8	7	21	5	3	0	2	0	1	0	2	1	6	1	3	1	6	0	2	1	6	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:45192091T>A	ENST00000279027.4	-	12	1612	c.1594A>T	c.(1594-1596)Atc>Ttc	p.I532F	SLC13A3_ENST00000472148.1_Missense_Mutation_p.I450F|SLC13A3_ENST00000435032.1_Missense_Mutation_p.I117F|SLC13A3_ENST00000495082.1_Missense_Mutation_p.I485F|SLC13A3_ENST00000413164.2_Missense_Mutation_p.I482F|SLC13A3_ENST00000396360.1_Missense_Mutation_p.I450F|SLC13A3_ENST00000290317.5_Missense_Mutation_p.I485F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	532						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCGAAGGCGATGGAGTTGGGG	0.637													7	24					0	0	0	0	A	45192091	T	A	45192091	3	1	389	1	0	0	0	0	1	0	0	0	14481	1464	51	5	222	5	SLC13A3	20	45192091	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	4212807	45192091	17833429	360	75045											
SULF2	55959	broad.mit.edu	37	chr20	46294678	46294678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggtcacactggactgtgtCgttctctaggatgtagcacc	8	11	11	11	1	2	0	1	0	1	0	4	2	2	2	1	3	1	3	1	3	2	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:46294678C>G	ENST00000359930.4	-	13	2676	c.1825G>C	c.(1825-1827)Gac>Cac	p.D609H	SULF2_ENST00000484875.1_Missense_Mutation_p.D609H|SULF2_ENST00000467815.1_Missense_Mutation_p.D609H|SULF2_ENST00000361612.4_Missense_Mutation_p.D609H	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	609					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGGACTGTGTCGTTCTCTAGG	0.607													10	60					0	0	0	0	G	46294678	C	G	46294678	3	3	389	1	0	0	0	0	1	0	0	0	15461	884	31	3	823	3	SULF2	20	46294678	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1102587	46294678	16730842	361	75046											
MC3R	4159	broad.mit.edu	37	chr20	54824320	54824320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcctggccatcgccgtcGacaggtacgtcaccatcttt	7	10	8	16	4	2	0	1	0	1	0	5	1	3	0	5	2	1	1	5	2	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:54824320G>A	ENST00000243911.2	+	1	533	c.421G>A	c.(421-423)Gac>Aac	p.D141N		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	178					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATCGCCGTCGACAGGTACGT	0.577													5	75					0	0	0	0	A	54824320	G	A	54824320	3	1	389	1	0	0	0	0	1	0	0	0	9434	1058	37	1	423	1	MC3R	20	54824320	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	8529642	54824320	8201200	362	75047											
PHACTR3	116154	broad.mit.edu	37	chr20	58318232	58318232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcgaactccccctgtgagGaggaacagcaaactggccac	12	6	10	13	1	0	1	0	1	0	0	2	4	1	3	3	3	4	1	3	3	3	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:58318232G>T	ENST00000371015.1	+	2	656	c.189G>T	c.(187-189)agG>agT	p.R63S	PHACTR3_ENST00000361300.4_Missense_Mutation_p.R22S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R60S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R22S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R22S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R22S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R22S	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	63						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCTGTGAGGAGGAACAGCA	0.527													20	60					1.33834e-09	1.64008e-09	1	0	T	58318232	G	T	58318232	3	4	389	1	0	0	0	0	1	0	0	0	11883	1165	41	2	195	2	PHACTR3	20	58318232	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	3493912	58318232	4707288	363	75048											
TPTE	7179	broad.mit.edu	37	chr21	10970040	10970040	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcctcctcggttgctcCtttaaattcacttgtctgtg	5	16	9	11	1	2	0	1	0	1	0	5	0	4	0	3	2	2	2	3	2	2	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:10970040C>A	ENST00000298232.7	-	6	455	c.88G>T	c.(88-90)Gga>Tga	p.G30*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.G30*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.G30*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	30					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGGTTGCTCCTTTAAATTCA	0.383													12	81					0.00185496	0.00197009	1	0	A	10970040	C	A	10970040	4	1	389	1	0	0	0	0	0	1	0	0	16525	690	24	4	1643	4	TPTE	21	10970040	Nonsense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		10970040	37159855	364	75049											
SAMSN1	64092	broad.mit.edu	37	chr21	15872961	15872961	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttctgagatgacatcCacataaatgaatttgaagtt	13	14	6	8	0	2	4	0	4	2	1	4	5	4	4	2	0	0	1	2	0	4	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:15872961C>G	ENST00000285670.2	-	7	1035	c.861G>C	c.(859-861)gtG>gtC	p.V287V	SAMSN1_ENST00000400564.1_Silent_p.V51V|SAMSN1_ENST00000400566.1_Silent_p.V219V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	219	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		AGATGACATCCACATAAATGA	0.408													20	57					0	0	0	0	G	15872961	C	G	15872961	2	3	389	1	0	0	0	0	0	0	0	1	13915	581	21	4		4	SAMSN1	21	15872961	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	4902921	15872961	32256934	365	75050											
IFNGR2	3460	broad.mit.edu	37	chr21	34787228	34787228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccgctcctcagcaccCgaagattcgcctgtacaacg	8	7	9	17	4	1	1	1	0	0	1	3	2	2	1	4	0	4	4	4	0	3	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:34787228C>A	ENST00000290219.6	+	2	755	c.107C>A	c.(106-108)cCg>cAg	p.P36Q	IFNGR2_ENST00000405436.1_5'UTR|IFNGR2_ENST00000381995.1_Missense_Mutation_p.P55Q	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	36	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CCTCAGCACCCGAAGATTCGC	0.527													18	30					9.16793e-09	1.10302e-08	1	0	A	34787228	C	A	34787228	3	1	389	1	0	0	0	0	1	0	0	0	7603	652	23	3	113	3	IFNGR2	21	34787228	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	18914267	34787228	13342667	366	75051											
KCNJ6	3763	broad.mit.edu	37	chr21	39087393	39087393	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtgaatggccactgggcTttcgacgtcctgatccatgg	6	11	13	11	2	0	2	0	2	0	0	3	3	2	2	3	4	0	1	3	4	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:39087393T>C	ENST00000400482.3	-	3	656	c.67A>G	c.(67-69)Agc>Ggc	p.S23G	KCNJ6_ENST00000288309.6_Missense_Mutation_p.S23G	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	23					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GCCACTGGGCTTTCGACGTCC	0.517													5	49					0	0	0	0	C	39087393	T	C	39087393	3	2	389	1	0	0	0	0	1	0	0	0	8108	1609	56	5	1212	5	KCNJ6	21	39087393	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08	4300165	39087393	9042502	367	75052											
COL6A2	1292	broad.mit.edu	37	chr21	47532001	47532001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgaagcagttcgtgcCgcagttcatcagccagctgc	9	8	10	14	2	2	1	2	1	0	0	3	1	2	1	3	0	5	5	3	0	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:47532001C>T	ENST00000300527.4	+	3	328	c.224C>T	c.(223-225)cCg>cTg	p.P75L	COL6A2_ENST00000310645.5_Missense_Mutation_p.P75L|COL6A2_ENST00000397763.1_Missense_Mutation_p.P75L|COL6A2_ENST00000409416.1_Missense_Mutation_p.P75L|COL6A2_ENST00000357838.4_Missense_Mutation_p.P75L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	75	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGTTCGTGCCGCAGTTCATC	0.612													10	46					0	0	0	0	T	47532001	C	T	47532001	3	4	389	1	0	0	0	0	1	0	0	0	3730	652	23	1	230	1	COL6A2	21	47532001	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8444608	47532001	597894	368	75053											
DGCR2	9993	broad.mit.edu	37	chr22	19055625	19055625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacttactgctgaagcgaaCgggctgcgccacgttcaccg	9	7	11	14	5	1	1	1	1	0	0	1	2	1	1	2	1	6	3	2	1	4	2	rs28434427		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:19055625C>T	ENST00000545799.1	-	3	516	c.316G>A	c.(316-318)Gtt>Att	p.V106I	DGCR2_ENST00000537045.1_Missense_Mutation_p.V65I|DGCR2_ENST00000263196.7_Missense_Mutation_p.V106I			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	106					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTGAAGCGAACGGGCTGCGCC	0.642													4	60					0	0	0	0	T	19055625	C	T	19055625	3	4	389	1	0	0	0	0	1	0	0	0	4498	536	19	1	1368	1	DGCR2	22	19055625	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08		19055625	32248941	369	75054											
TBC1D10A	83874	broad.mit.edu	37	chr22	30690945	30690945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtacctcagcaggcatatgCatgagcaagacagcggcaat	13	6	12	10	1	1	2	1	1	0	1	1	2	1	2	1	3	5	6	1	3	4	2	rs143051895		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:30690945C>A	ENST00000215790.7	-	5	788	c.624G>T	c.(622-624)atG>atT	p.M208I	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.M120I|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.M82I|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.M215I	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	208	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CAGGCATATGCATGAGCAAGA	0.662													50	92					5.73376e-24	8.02726e-24	1	0	A	30690945	C	A	30690945	3	1	389	1	0	0	0	0	1	0	0	0	15689	710	25	4	922	4	TBC1D10A	22	30690945	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	11635320	30690945	20613621	370	75055											
DEPDC5	9681	broad.mit.edu	37	chr22	32188044	32188044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtagtcatgaagtgaCagtggtcctgttttctagaa	11	13	11	6	0	2	3	1	2	1	1	3	4	3	3	1	1	1	2	1	1	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:32188044C>A	ENST00000400246.1	+	11	792	c.650C>A	c.(649-651)aCa>aAa	p.T217K	DEPDC5_ENST00000382105.2_Missense_Mutation_p.T217K|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T217K|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T217K|DEPDC5_ENST00000400242.3_Missense_Mutation_p.T217K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T217K|DEPDC5_ENST00000536766.1_Missense_Mutation_p.T189K|DEPDC5_ENST00000400248.1_Missense_Mutation_p.T217K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T217K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T217K			O75140	DEPD5_HUMAN	DEP domain containing 5	217					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATGAAGTGACAGTGGTCCTG	0.388													5	43					0.0215528	0.0221275	1	0	A	32188044	C	A	32188044	3	1	389	1	0	0	0	0	1	0	0	0	4479	478	17	4	688	4	DEPDC5	22	32188044	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1497099	32188044	19116522	371	75056											
CSF2RB	1439	broad.mit.edu	37	chr22	37333864	37333864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccctccctggagtccgggGgaggccctgcccctcctgct	2	8	13	18	1	0	0	0	0	0	0	4	2	4	2	7	4	2	1	7	4	0	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:37333864G>A	ENST00000262825.5	+	14	2249	c.2032G>A	c.(2032-2034)Gga>Aga	p.G678R	CSF2RB_ENST00000536485.1_Missense_Mutation_p.G619R|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G672R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G678R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	672					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGTCCGGGGGAGGCCCTGC	0.672													6	9					0	0	0	0	A	37333864	G	A	37333864	3	1	389	1	0	0	0	0	1	0	0	0	3967	1233	43	4	2064	4	CSF2RB	22	37333864	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	5145820	37333864	13970702	372	75057											
SGSM3	27352	broad.mit.edu	37	chr22	40798188	40798188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttctactacgatgagtttGgtttccgtgtgtacaaggaa	10	14	11	6	2	1	1	0	1	1	0	2	3	2	2	1	2	3	4	1	2	5	6			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:40798188G>T	ENST00000248929.9	+	4	325	c.136G>T	c.(136-138)Ggt>Tgt	p.G46C	SGSM3_ENST00000454798.2_5'UTR	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	46					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CGATGAGTTTGGTTTCCGTGT	0.498													14	67					7.93312e-07	9.04963e-07	1	0	T	40798188	G	T	40798188	3	4	389	1	0	0	0	0	1	0	0	0	14311	1348	47	4	146	4	SGSM3	22	40798188	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	3464324	40798188	10506378	373	75058											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659133	50659133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgatgctggtgtcagAcacatgtccgtgggtgttcc	7	11	12	11	1	1	2	1	1	0	1	3	2	3	2	3	2	2	2	3	2	1	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:50659133A>G	ENST00000439308.2	-	16	4147	c.3655T>C	c.(3655-3657)Tct>Cct	p.S1219P	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.S1219P	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1219	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGGTGTCAGACACATGTCCG	0.607													6	83					0	0	0	0	G	50659133	A	G	50659133	3	3	389	1	0	0	0	0	1	0	0	0	16866	275	10	5	1844	5	TUBGCP6	22	50659133	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	9860945	50659133	645433	374	75059											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51041670	51041670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcctctccctggggCgctcggagcagccgcacccc	6	4	13	18	3	1	0	0	0	1	0	3	2	1	2	5	4	3	3	5	4	0	0			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:51041670C>G	ENST00000329492.3	+	3	307	c.190C>G	c.(190-192)Cgc>Ggc	p.R64G	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R37G|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R64G|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R64G|MAPK8IP2_ENST00000399912.1_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	64					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCCTGGGGCGCTCGGAGCA	0.612													10	13					0	0	0	0	G	51041670	C	G	51041670	3	3	389	1	0	0	0	0	1	0	0	0	9354	768	27	3	290	3	MAPK8IP2	22	51041670	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	382537	51041670	262896	375	75060											
IL3RA	3563	broad.mit.edu	37	chrX	1464252	1464252	+	Silent	SNP	T	T	C																															ctaaggatgaaagcaaaggcTcagcagttgacctgggacct																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:1464252T>C	ENST00000331035.4	+	3	457	c.108T>C	c.(106-108)gcT>gcC	p.A36A	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	36						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAGCAAAGGCTCAGCAGTTGA	0.423													11	134					0	0	0	0	C	1464252	T	C	1464252	2	2	389	1	0	0	0	0	0	0	0	1	7748	1538	54	5		5	IL3RA	23	1464252	Silent	SNP	T	TCGA-DQ-7589-01A-11D-2229-08		1464252	153806308	376	75061	1012	2									
IL3RA	3563	broad.mit.edu	37	chrX	1464254	1464254	+	Missense_Mutation	SNP	A	A	G																															aaggatgaaagcaaaggctcAgcagttgacctgggacctta																										TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:1464254A>G	ENST00000331035.4	+	3	459	c.110A>G	c.(109-111)cAg>cGg	p.Q37R	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	37						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCAAAGGCTCAGCAGTTGACC	0.423													11	140					0	0	0	0	G	1464254	A	G	1464254	3	3	389	1	0	0	0	0	1	0	0	0	7748	188	7	5	116	5	IL3RA	23	1464254	Missense_Mutation	SNP	A	TCGA-DQ-7589-01A-11D-2229-08	2	1464254	153806306	377	75062	1012	2									
BEND2	139105	broad.mit.edu	37	chrX	18183227	18183227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgactgagacctggcttcagCccttctgacgtcatgtctaa	8	11	9	13	2	4	2	2	2	2	1	4	4	4	2	2	1	1	1	2	1	1	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:18183227C>T	ENST00000380033.4	-	14	2434	c.2302G>A	c.(2302-2304)Gct>Act	p.A768T		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	768								p.A768P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTGGCTTCAGCCCTTCTGACG	0.552													4	139					0	0	0	0	T	18183227	C	T	18183227	3	4	389	1	0	0	0	0	1	0	0	0	1402	739	26	4	101	4	BEND2	23	18183227	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	16718973	18183227	137087333	378	75063											
PLP2	5355	broad.mit.edu	37	chrX	49029528	49029528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcctccacaccaggctactCctccctgtcggtgattgaga	7	10	9	15	1	0	2	0	2	0	1	4	3	3	2	5	2	2	1	5	2	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:49029528C>T	ENST00000376327.5	+	2	224	c.149C>T	c.(148-150)tCc>tTc	p.S50F	PLP2_ENST00000376322.3_Missense_Mutation_p.S50F	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	50	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CCAGGCTACTCCTCCCTGTCG	0.507													14	7					0	0	0	0	T	49029528	C	T	49029528	3	4	389	1	0	0	0	0	1	0	0	0	12177	855	30	2	155	2	PLP2	23	49029528	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	30846301	49029528	106241032	379	75064											
SHROOM4	57477	broad.mit.edu	37	chrX	50376610	50376610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccatgggatggcgcctCaattccctacagctggagct	7	10	12	12	1	1	0	1	0	0	0	3	2	3	2	3	4	3	2	3	4	2	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:50376610C>A	ENST00000376020.2	-	4	2488	c.2463G>T	c.(2461-2463)ttG>ttT	p.L821F	SHROOM4_ENST00000460112.3_Missense_Mutation_p.L705F|SHROOM4_ENST00000289292.7_Missense_Mutation_p.L821F	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	821					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GATGGCGCCTCAATTCCCTAC	0.458													42	73					1.22674e-20	1.67679e-20	1	0	A	50376610	C	A	50376610	3	1	389	1	0	0	0	0	1	0	0	0	14384	825	29	2	2042	2	SHROOM4	23	50376610	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	1347082	50376610	104893950	380	75065											
ZC3H12B	340554	broad.mit.edu	37	chrX	64709219	64709219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcaagccctgaattgtctCttgaagatgaaatagataac	14	12	8	7	0	1	5	0	3	1	2	2	5	1	5	1	0	3	1	1	0	6	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:64709219C>G	ENST00000338957.4	+	1	605	c.538C>G	c.(538-540)Ctt>Gtt	p.L180V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L169V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	169							endonuclease activity|nucleic acid binding|zinc ion binding	p.L116I(1)|p.L30I(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAATTGTCTCTTGAAGATGA	0.443													11	49					0	0	0	0	G	64709219	C	G	64709219	3	3	389	1	0	0	0	0	1	0	0	0	17657	913	32	2	540	2	ZC3H12B	23	64709219	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	14332609	64709219	90561341	381	75066											
NHSL2	340527	broad.mit.edu	37	chrX	71358841	71358841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttctgaccagtgggacCtcgaggctggagacaggccc	7	6	15	13	1	1	2	0	1	1	1	2	5	1	3	4	5	0	1	4	5	0	1			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:71358841C>T	ENST00000373677.1	+	2	1607	c.345C>T	c.(343-345)acC>acT	p.T115T	NHSL2_ENST00000510661.1_Silent_p.T250T|NHSL2_ENST00000535692.1_Silent_p.T115T|NHSL2_ENST00000540800.1_Silent_p.T481T			F5H593	F5H593_HUMAN	NHS-like 2	481										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCAGTGGGACCTCGAGGCTGG	0.607													7	2					0	0	0	0	T	71358841	C	T	71358841	2	4	389	1	0	0	0	0	0	0	0	1	10482	668	24	4		4	NHSL2	23	71358841	Silent	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	6649622	71358841	83911719	382	75067											
CDR1	1038	broad.mit.edu	37	chrX	139865950	139865950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atatatgtcttcctgaagatCcacgtcttccagaaaatcca	13	12	5	11	1	2	3	0	1	2	2	6	3	6	3	4	0	0	0	4	0	5	4			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:139865950C>G	ENST00000370532.2	-	1	773	c.582G>C	c.(580-582)tgG>tgC	p.W194C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	194	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCTGAAGATCCACGTCTTCC	0.438													27	103					0	0	0	0	G	139865950	C	G	139865950	3	3	389	1	0	0	0	0	1	0	0	0	3200	856	30	2	210	2	CDR1	23	139865950	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	68507109	139865950	15404610	383	75068											
SLITRK2	84631	broad.mit.edu	37	chrX	144906251	144906251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaacttcccagcgcaGgcctagtccactataacttt	11	10	7	13	1	1	0	1	0	0	0	3	1	3	1	3	2	3	1	3	2	5	5			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:144906251G>C	ENST00000370490.1	+	1	6563	c.2308G>C	c.(2308-2310)Ggc>Cgc	p.G770R	SLITRK2_ENST00000447897.2_Missense_Mutation_p.G770R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G770R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G770R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G770R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	770						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCAGCGCAGGCCTAGTCCA	0.458													15	91					0	0	0	0	C	144906251	G	C	144906251	3	2	389	1	0	0	0	0	1	0	0	0	14831	1000	35	4	2310	4	SLITRK2	23	144906251	Missense_Mutation	SNP	G	TCGA-DQ-7589-01A-11D-2229-08	5040301	144906251	10364309	384	75069											
OPN1LW	5956	broad.mit.edu	37	chrX	153416182	153416182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatgggtgtaccacctcaCcagtgtctggatgatctttg	8	12	11	10	0	3	2	1	1	2	1	3	3	3	3	3	2	1	1	3	2	1	2			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:153416182C>A	ENST00000369951.4	+	2	227	c.167C>A	c.(166-168)aCc>aAc	p.T56N	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	56					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCACCTCACCAGTGTCTGG	0.592													11	59					5.50884e-06	6.19242e-06	1	0	A	153416182	C	A	153416182	3	1	389	1	0	0	0	0	1	0	0	0	10948	507	18	4	173	4	OPN1LW	23	153416182	Missense_Mutation	SNP	C	TCGA-DQ-7589-01A-11D-2229-08	8509931	153416182	1854378	385	75070											
USP9Y	8287	broad.mit.edu	37	chrY	14958426	14958426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaatgtgtcatcaacaaTgcagtcttcaatcaatggta	13	13	7	8	0	5	0	4	0	1	0	5	0	5	0	0	1	3	3	0	1	6	3			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrY:14958426T>C	ENST00000338981.3	+	40	7682	c.6737T>C	c.(6736-6738)aTg>aCg	p.M2246T	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2246					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCATCAACAATGCAGTCTTCA	0.363													10	7					0	0	0	0	C	14958426	T	C	14958426	3	2	389	1	0	0	0	0	1	0	0	0	17187	1464	51	5	6887	5	USP9Y	24	14958426	Missense_Mutation	SNP	T	TCGA-DQ-7589-01A-11D-2229-08		14958426	44415140	386	75071											
HTR1D	3352	broad.mit.edu	37	chr1	23519918	23519918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggggagccagccgagtgCgagtgcccctcatggaggct	8	5	17	11	2	1	1	1	0	0	1	1	5	1	3	4	4	4	1	4	4	0	0			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:23519918C>T	ENST00000374619.1	-	1	1304	c.795G>A	c.(793-795)tcG>tcA	p.S265S	HTR1D_ENST00000314113.3_Silent_p.S265S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	265			S -> L (in dbSNP:rs6299).		G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGCCGAGTGCGAGTGCCCCT	0.582													30	101					0	0	0	0	T	23519918	C	T	23519918	2	4	390	1	0	0	0	0	0	0	0	1	7491	755	27	1		1	HTR1D	1	23519918	Silent	SNP	C	TCGA-DQ-7590-01A-11D-2229-08		23519918	225730703	1	75072											
SYNC	81493	broad.mit.edu	37	chr1	33149861	33149861	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagcagcagaaactgacttAtaagtagagagctcttcagc	15	9	9	8	0	2	3	1	1	1	2	2	4	2	3	0	0	5	4	0	0	5	5			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:33149861A>G	ENST00000373484.3	-	3	1455	c.1356T>C	c.(1354-1356)taT>taC	p.Y452Y	SYNC_ENST00000409190.3_Silent_p.Y452Y|RBBP4_ENST00000373493.5_3'UTR	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAACTGACTTATAAGTAGAGA	0.428													101	280					0	0	0	0	G	33149861	A	G	33149861	2	3	390	1	0	0	0	0	0	0	0	1	15534	456	16	5		5	SYNC	1	33149861	Silent	SNP	A	TCGA-DQ-7590-01A-11D-2229-08	9629943	33149861	216100760	2	75073											
HPDL	84842	broad.mit.edu	37	chr1	45793539	45793539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttccgggggcgacgacacGacaggaccaggtggagcagt	9	4	16	12	4	0	0	0	0	0	0	1	5	1	2	3	5	1	1	3	5	0	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:45793539G>A	ENST00000334815.3	+	1	995	c.719G>A	c.(718-720)cGa>cAa	p.R240Q		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	240					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCGACGACACGACAGGACCAG	0.652													38	131					0	0	0	0	A	45793539	G	A	45793539	3	1	390	1	0	0	0	0	1	0	0	0	7383	1058	37	1	721	1	HPDL	1	45793539	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	12643678	45793539	203457082	3	75074											
HMCN1	83872	broad.mit.edu	37	chr1	186113447	186113447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggagcagaaacacagatGcaagtttgcaatgaaagaaa	19	6	11	5	0	0	4	0	1	0	3	0	6	0	5	0	1	4	4	0	1	5	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:186113447G>A	ENST00000271588.4	+	90	14296	c.14067G>A	c.(14065-14067)atG>atA	p.M4689I	HMCN1_ENST00000367492.2_Missense_Mutation_p.M4689I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4689	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAACACAGATGCAAGTTTGCA	0.388													35	128					0	0	0	0	A	186113447	G	A	186113447	3	1	390	1	0	0	0	0	1	0	0	0	7270	1319	46	4	14425	4	HMCN1	1	186113447	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	140319908	186113447	63137174	4	75075											
TNNT2	7139	broad.mit.edu	37	chr1	201330409	201330409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagcatggcggcccacctCatatttctgctgcttgaact	8	11	9	13	1	2	1	1	1	1	0	2	2	2	1	2	2	4	3	2	2	2	3			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:201330409C>T	ENST00000509001.1	-	14	1064	c.778G>A	c.(778-780)Gag>Aag	p.E260K	TNNT2_ENST00000367320.2_Missense_Mutation_p.E227K|TNNT2_ENST00000367322.1_Missense_Mutation_p.E257K|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000360372.4_Missense_Mutation_p.E255K|TNNT2_ENST00000458432.2_Missense_Mutation_p.E269K|TNNT2_ENST00000236918.7_Missense_Mutation_p.E265K|TNNT2_ENST00000421663.2_Missense_Mutation_p.E263K|TNNT2_ENST00000367315.2_Missense_Mutation_p.E257K|TNNT2_ENST00000367317.4_Missense_Mutation_p.E260K|TNNT2_ENST00000367318.5_Missense_Mutation_p.E260K	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	270					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CGGCCCACCTCATATTTCTGC	0.582											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	385					0	0	0	0	T	201330409	C	T	201330409	3	4	390	1	0	0	0	0	1	0	0	0	16425	835	29	2	100	2	TNNT2	1	201330409	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	15216962	201330409	47920212	5	75076											
NLRP3	114548	broad.mit.edu	37	chr1	247597557	247597557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggactgaagcacctgttgtGcaatctgaagaagctctggt	10	10	13	8	0	2	3	0	2	2	1	2	4	2	4	1	2	3	4	1	2	4	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:247597557G>A	ENST00000366497.2	+	6	3260	c.2480G>A	c.(2479-2481)tGc>tAc	p.C827Y	NLRP3_ENST00000348069.2_Missense_Mutation_p.C770Y|NLRP3_ENST00000336119.3_Missense_Mutation_p.C827Y|NLRP3_ENST00000391828.3_Missense_Mutation_p.C827Y|NLRP3_ENST00000366496.2_Missense_Mutation_p.C827Y|NLRP3_ENST00000391827.2_Missense_Mutation_p.C770Y	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	884					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			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)			CACCTGTTGTGCAATCTGAAG	0.592													40	91					0	0	0	0	A	247597557	G	A	247597557	3	1	390	1	0	0	0	0	1	0	0	0	10548	1319	46	4	2498	4	NLRP3	1	247597557	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	46267148	247597557	1653064	6	75077											
ZEB2	9839	broad.mit.edu	37	chr2	145157835	145157835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcactcgtaaggtttttCacctaaaatgataattaaaa	15	13	7	6	1	1	1	1	1	0	0	2	1	1	1	1	2	0	3	1	2	6	6			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr2:145157835C>T	ENST00000558170.2	-	8	2103	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	ZEB2_ENST00000539609.3_Missense_Mutation_p.E283K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E307K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E307K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	307						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TAAGGTTTTTCACCTAAAATG	0.363													5	25					0	0	0	0	T	145157835	C	T	145157835	3	4	390	1	0	0	0	0	1	0	0	0	17719	835	29	2	2737	2	ZEB2	2	145157835	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08		145157835	98041538	7	75078											
SLC4A10	57282	broad.mit.edu	37	chr2	162358035	162358035	+	RNA	DEL	C	C	-																															acgtttttgactttgactttCagtcttttttgtaagttttt																										TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr2:162358035delC	ENST00000605990.1	+	0	344																											CTTTGACTTTCAGTCTTTTTT	0.373													8	72	---	---	---	---					-	162358035	C	-	162358035	6	5	390	0	1	1	0	1	0	0	0	0	14739	841	29	0		0	SLC4A10	2	162358035	RNA	DEL	C	TCGA-DQ-7590-01A-11D-2229-08	17200200	162358035	80841338	8	75079											
SF3B1	23451	broad.mit.edu	37	chr2	198260869	198260869	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattcaaacaagaaggaaagCgattttaacactccattttg	16	12	6	7	1	1	1	1	0	0	1	2	3	2	2	1	1	3	0	1	1	6	6			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr2:198260869C>A	ENST00000335508.5	-	23	3541	c.3450G>T	c.(3448-3450)tcG>tcT	p.S1150S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1150					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGAAGGAAAGCGATTTTAACA	0.363			Mis		myelodysplastic syndrome								9	119					1.58986e-06	1.6758e-06	1	0	A	198260869	C	A	198260869	2	1	390	1	0	0	0	0	0	0	0	1	14236	755	27	3		3	SF3B1	2	198260869	Silent	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	35902834	198260869	44938504	9	75080											
FLNB	2317	broad.mit.edu	37	chr3	58095017	58095017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaccattgctgtggtctggGgaggcgtgaacatcccgcac	8	8	13	12	2	1	1	0	1	1	0	2	2	2	2	2	4	2	2	2	4	1	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr3:58095017G>A	ENST00000357272.4	+	14	2332	c.2167G>A	c.(2167-2169)Gga>Aga	p.G723R	FLNB_ENST00000358537.3_Missense_Mutation_p.G723R|FLNB_ENST00000429972.2_Missense_Mutation_p.G723R|FLNB_ENST00000348383.5_Missense_Mutation_p.G723R|FLNB_ENST00000419752.2_Missense_Mutation_p.G554R|FLNB_ENST00000295956.4_Missense_Mutation_p.G723R|FLNB_ENST00000493452.1_Missense_Mutation_p.G554R|FLNB_ENST00000490882.1_Missense_Mutation_p.G723R			O75369	FLNB_HUMAN	filamin B, beta	723					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGTGGTCTGGGGAGGCGTGAA	0.547													6	18					0	0	0	0	A	58095017	G	A	58095017	3	1	390	1	0	0	0	0	1	0	0	0	5979	1233	43	4	2221	4	FLNB	3	58095017	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08		58095017	139927413	10	75081											
LDB2	9079	broad.mit.edu	37	chr4	16510221	16510221	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgctgccagtgctgttTgcattgttcccagcgctgct	3	16	10	12	1	1	0	0	0	1	0	2	0	2	0	2	0	6	7	2	0	0	5			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr4:16510221T>C	ENST00000502640.1	-	7	976	c.828A>G	c.(826-828)gcA>gcG	p.A276A	LDB2_ENST00000503178.2_Silent_p.A152A|LDB2_ENST00000441778.2_Silent_p.A276A|LDB2_ENST00000304523.5_Silent_p.A276A|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Silent_p.A276A			O43679	LDB2_HUMAN	LIM domain binding 2	276							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CAGTGCTGTTTGCATTGTTCC	0.498													6	88					0	0	0	0	C	16510221	T	C	16510221	2	2	390	1	0	0	0	0	0	0	0	1	8749	1799	63	5		5	LDB2	4	16510221	Silent	SNP	T	TCGA-DQ-7590-01A-11D-2229-08		16510221	174644055	11	75082											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984755	41984755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcacgtgaatgagtccGcctatctgcccctgcatgtg	8	10	11	12	2	2	2	1	2	1	0	3	2	3	2	4	1	2	1	4	1	3	1	rs143365042		TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr4:41984755G>A	ENST00000333141.5	+	1	1043	c.946G>A	c.(946-948)Gcc>Acc	p.A316T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	316										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAATGAGTCCGCCTATCTGCC	0.552													23	53					0	0	0	0	A	41984755	G	A	41984755	3	1	390	1	0	0	0	0	1	0	0	0	4304	1087	38	1	948	1	DCAF4L1	4	41984755	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	25474534	41984755	149169521	12	75083											
ARHGAP26	23092	broad.mit.edu	37	chr5	142311682	142311682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaagccatggatggcCgggaacctgtaagtaacaat	13	7	14	7	1	0	0	0	0	0	0	0	4	0	4	3	5	3	2	3	5	5	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:142311682C>T	ENST00000378004.3	+	11	1454	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.R367W	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	367	PH.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGGATGGCCGGGAACCTGT	0.498													25	89					0	0	0	0	T	142311682	C	T	142311682	3	4	390	1	0	0	0	0	1	0	0	0	877	643	23	1	1141	1	ARHGAP26	5	142311682	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08		142311682	38603578	13	75084											
GPX3	2878	broad.mit.edu	37	chr5	150407062	150407062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggatgtcaatggagaGaaagagcagaaattctacac	18	6	12	5	0	2	3	1	0	1	3	2	6	2	5	0	3	2	1	0	3	5	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:150407062G>T	ENST00000388825.4	+	4	521	c.429G>T	c.(427-429)gaG>gaT	p.E143D	GPX3_ENST00000517973.1_Missense_Mutation_p.R92I	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	143					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TCAATGGAGAGAAAGAGCAGA	0.537													10	134					7.48243e-07	7.99492e-07	1	0	T	150407062	G	T	150407062	3	4	390	1	0	0	0	0	1	0	0	0	6791	933	33	2	443	2	GPX3	5	150407062	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	8095380	150407062	30508198	14	75085											
ZFP2	80108	broad.mit.edu	37	chr5	178358470	178358470	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggaggtaatgaatttgaAagatgttccagtcaggattc	12	13	12	4	0	1	3	1	2	0	1	3	5	2	5	1	3	0	2	1	3	3	4			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:178358470A>C	ENST00000361362.2	+	5	686	c.156A>C	c.(154-156)gaA>gaC	p.E52D	ZFP2_ENST00000523286.1_Missense_Mutation_p.E52D|ZFP2_ENST00000503510.2_Missense_Mutation_p.E52D|ZFP2_ENST00000520301.1_Missense_Mutation_p.E52D	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		ATGAATTTGAAAGATGTTCCA	0.418													16	68					0	0	0	0	C	178358470	A	C	178358470	3	2	390	1	0	0	0	0	1	0	0	0	17736	11	1	5	158	5	ZFP2	5	178358470	Missense_Mutation	SNP	A	TCGA-DQ-7590-01A-11D-2229-08	27951408	178358470	2556790	15	75086											
RUFY1	80230	broad.mit.edu	37	chr5	178994548	178994548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaaagtgcttatagacaAtaaacatctcttaaggtatt	15	14	6	6	0	2	2	0	1	2	1	3	2	2	2	0	1	2	2	0	1	8	6			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:178994548A>G	ENST00000377001.2	+	4	689	c.689A>G	c.(688-690)aAt>aGt	p.N230S	RUFY1_ENST00000437570.2_Missense_Mutation_p.N122S|RUFY1_ENST00000319449.4_Missense_Mutation_p.N230S|RUFY1_ENST00000393438.2_Missense_Mutation_p.N122S			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	230	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTATAGACAATAAACATCTC	0.413										HNSCC(44;0.11)			10	43					0	0	0	0	G	178994548	A	G	178994548	3	3	390	1	0	0	0	0	1	0	0	0	13823	101	4	5	703	5	RUFY1	5	178994548	Missense_Mutation	SNP	A	TCGA-DQ-7590-01A-11D-2229-08	636078	178994548	1920712	16	75087											
SYNCRIP	10492	broad.mit.edu	37	chr6	86333749	86333749	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggttttactcttaggaaTagagcccacaaaaagcctat	13	12	7	9	0	1	1	0	0	1	1	1	2	1	2	2	2	3	1	2	2	7	6			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:86333749T>A	ENST00000355238.6	-	7	954	c.748A>T	c.(748-750)Att>Ttt	p.I250F	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.I250F	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	250	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTCTTAGGAATAGAGCCCACA	0.358													11	38					0	0	0	0	A	86333749	T	A	86333749	3	1	390	1	0	0	0	0	1	0	0	0	15535	1406	49	5	1189	5	SYNCRIP	6	86333749	Missense_Mutation	SNP	T	TCGA-DQ-7590-01A-11D-2229-08		86333749	84781318	17	75088											
RARS2	57038	broad.mit.edu	37	chr6	88227948	88227948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacaagcagtgttgaagtCattcaggtacccacatccaa	15	9	7	10	0	2	1	2	1	0	0	3	1	3	1	2	1	3	3	2	1	6	4			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:88227948C>A	ENST00000369536.5	-	17	1495	c.1450G>T	c.(1450-1452)Gac>Tac	p.D484Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	484					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTGTTGAAGTCATTCAGGTAC	0.383													27	100					1.1804e-14	1.27876e-14	1	0	A	88227948	C	A	88227948	3	1	390	1	0	0	0	0	1	0	0	0	13141	826	29	2	302	2	RARS2	6	88227948	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	1894199	88227948	82887119	18	75089											
ENPP1	5167	broad.mit.edu	37	chr6	132198250	132198250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcaccccctggtacagtgCcccttcacaagaaaccccag	10	6	8	17	0	1	1	1	0	0	1	1	1	1	1	6	1	4	2	6	1	3	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:132198250C>T	ENST00000360971.2	+	18	1862	c.1842C>T	c.(1840-1842)tgC>tgT	p.C614C		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	614					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGGTACAGTGCCCCTTCACAA	0.468													3	23					0	0	0	0	T	132198250	C	T	132198250	2	4	390	1	0	0	0	0	0	0	0	1	5167	747	26	4		4	ENPP1	6	132198250	Silent	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	43970302	132198250	38916817	19	75090											
TMEM184A	202915	broad.mit.edu	37	chr7	1588285	1588285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcgaggctgacggaggcGttgtagatgagggtcacata	10	7	18	6	3	1	3	1	2	0	1	1	5	1	4	0	5	0	3	0	5	2	3			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr7:1588285G>A	ENST00000297477.5	-	7	1000	c.684C>T	c.(682-684)aaC>aaT	p.N228N		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	228						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TGACGGAGGCGTTGTAGATGA	0.632													24	45					0	0	0	0	A	1588285	G	A	1588285	2	1	390	1	0	0	0	0	0	0	0	1	16198	1136	40	1		1	TMEM184A	7	1588285	Silent	SNP	G	TCGA-DQ-7590-01A-11D-2229-08		1588285	157550378	20	75091											
TMED4	222068	broad.mit.edu	37	chr7	44620838	44620838	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgtcgagatgcacccGctacaaggaaacatggaatg	13	7	12	9	2	0	1	0	0	0	1	1	5	0	4	1	3	3	2	1	3	4	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr7:44620838G>A	ENST00000457408.2	-	4	440	c.387_splice	c.e4-1	p.R130_splice	TMED4_ENST00000289577.5_Intron|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Splice_Site_p.R130_splice	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	130	GOLD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGATGCACCCGCTACAAGGAA	0.547													8	71					0	0	0	0	A	44620838	G	A	44620838	5	1	390	1	0	0	0	0	0	0	1	0	16100	1101	38	1	303	1	TMED4	7	44620838	Splice_Site	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	43032553	44620838	114517825	21	75092											
LMTK2	22853	broad.mit.edu	37	chr7	97823365	97823365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcatcccacggaagaCgaggccagcagtccctggag	10	4	14	13	2	0	1	0	0	0	1	2	4	2	3	3	4	2	2	3	4	1	0			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr7:97823365C>T	ENST00000297293.5	+	11	3881	c.3588C>T	c.(3586-3588)gaC>gaT	p.D1196D		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1196					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACGGAAGACGAGGCCAGCA	0.597													6	67					0	0	0	0	T	97823365	C	T	97823365	2	4	390	1	0	0	0	0	0	0	0	1	8914	535	19	1		1	LMTK2	7	97823365	Silent	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	53202527	97823365	61315298	22	75093											
RELN	5649	broad.mit.edu	37	chr7	103194107	103194107	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagattcttaatacttacGgtgccccctttgaagaatat	11	16	6	8	1	1	3	0	1	1	2	1	3	1	3	2	1	3	0	2	1	7	8	rs149473868	byFrequency	TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr7:103194107G>A	ENST00000424685.2	-	39	6128	c.5969_splice	c.e39+1	p.P1990_splice	RELN_ENST00000343529.5_Splice_Site_p.P1990_splice|RELN_ENST00000428762.1_Splice_Site_p.P1990_splice			P78509	RELN_HUMAN	reelin	1990					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAATACTTACGGTGCCCCCTT	0.373													7	26					0	0	0	0	A	103194107	G	A	103194107	5	1	390	1	0	0	0	0	0	0	1	0	13302	1130	39	1	4521	1	RELN	7	103194107	Splice_Site	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	5370742	103194107	55944556	23	75094											
ELP3	55140	broad.mit.edu	37	chr8	28017757	28017757	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actaaataggttgaattggtAaggagagattatgttgcaaa	16	12	11	2	0	0	2	0	1	0	1	0	4	0	3	0	3	1	4	0	3	7	7			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr8:28017757A>T	ENST00000256398.8	+	13	1646	c.1269A>T	c.(1267-1269)gtA>gtT	p.V423V	ELP3_ENST00000542181.1_Silent_p.V294V|ELP3_ENST00000380353.4_Silent_p.V331V|ELP3_ENST00000537665.1_Silent_p.V304V|ELP3_ENST00000521015.1_Silent_p.V409V|ELP3_ENST00000524103.1_Silent_p.V351V	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	423	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTGAATTGGTAAGGAGAGATT	0.313													13	34					0	0	0	0	T	28017757	A	T	28017757	2	4	390	1	0	0	0	0	0	0	0	1	5119	349	13	5		5	ELP3	8	28017757	Silent	SNP	A	TCGA-DQ-7590-01A-11D-2229-08		28017757	118346265	24	75095											
RUNX1T1	862	broad.mit.edu	37	chr8	92972720	92972720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccactgcaggtttcactcGctttacggccacaattccag	9	10	8	14	2	1	0	1	0	0	0	3	0	2	0	3	2	3	3	3	2	2	4			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr8:92972720G>A	ENST00000523629.1	-	12	2019	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A533V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A495V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A485V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A522V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A485V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A485V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A495V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	522					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGTTTCACTCGCTTTACGGCC	0.463													12	36					0	0	0	0	A	92972720	G	A	92972720	3	1	390	1	0	0	0	0	1	0	0	0	13832	1087	38	1	253	1	RUNX1T1	8	92972720	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	64954963	92972720	53391302	25	75096											
TRHR	7201	broad.mit.edu	37	chr8	110099808	110099808	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagcagtggtggccttaGaataccaggtggtcaccatc	10	8	12	11	1	1	1	1	0	0	1	2	2	1	1	3	4	2	1	3	4	3	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr8:110099808G>T	ENST00000518632.1	+	2	418	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.E23*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	23						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGTGGCCTTAGAATACCAGGT	0.458													23	52					3.83957e-06	3.99315e-06	1	0	T	110099808	G	T	110099808	4	4	390	1	0	0	0	0	0	1	0	0	16575	943	33	2	69	2	TRHR	8	110099808	Nonsense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	17127088	110099808	36264214	26	75097											
DFNB31	25861	broad.mit.edu	37	chr9	117266568	117266568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcagctagagagcctggttCcaccagagacacgtagatgc	11	7	11	12	1	1	3	1	0	0	3	2	5	2	3	3	1	3	3	3	1	2	3			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr9:117266568C>T	ENST00000362057.3	-	1	682	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DFNB31_ENST00000374057.3_Missense_Mutation_p.E172K|DFNB31_ENST00000480518.1_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	172	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGCCTGGTTCCACCAGAGAC	0.662													30	112					0	0	0	0	T	117266568	C	T	117266568	3	4	390	1	0	0	0	0	1	0	0	0	4492	864	30	2	2257	2	DFNB31	9	117266568	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08		117266568	23946863	27	75098											
SETX	23064	broad.mit.edu	37	chr9	135163671	135163671	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgctgccgggaaagctcAtccagctgataatctagaaa	12	8	10	11	2	2	2	1	1	1	1	4	3	3	3	2	1	3	4	2	1	4	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr9:135163671A>G	ENST00000372169.2	-	17	6458	c.6276T>C	c.(6274-6276)gaT>gaC	p.D2092D	SETX_ENST00000393220.1_Silent_p.D2092D|SETX_ENST00000224140.5_Silent_p.D2092D			Q7Z333	SETX_HUMAN	senataxin	2092					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGGAAAGCTCATCCAGCTGAT	0.363													9	48					0	0	0	0	G	135163671	A	G	135163671	2	3	390	1	0	0	0	0	0	0	0	1	14228	214	8	5		5	SETX	9	135163671	Silent	SNP	A	TCGA-DQ-7590-01A-11D-2229-08	17897103	135163671	6049760	28	75099											
ADAMTS14	140766	broad.mit.edu	37	chr10	72517740	72517740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctgccacctgtggagaggGcatccagcagcggcaggtgg	7	6	16	12	1	1	1	0	0	1	1	2	2	2	1	3	5	3	3	3	5	0	0			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr10:72517740G>A	ENST00000373208.1	+	20	2969	c.2969G>A	c.(2968-2970)gGc>gAc	p.G990D	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G987D	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	987	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGTGGAGAGGGCATCCAGCAG	0.652													4	73					0	0	0	0	A	72517740	G	A	72517740	3	1	390	1	0	0	0	0	1	0	0	0	259	1203	42	4	3047	4	ADAMTS14	10	72517740	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08		72517740	63017007	29	75100											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642776	1642776	+	Missense_Mutation	SNP	T	T	C																															agcagctggactggcagcagTagggcttgcagcagctggac																										TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:1642776T>C	ENST00000399682.1	-	1	592	c.548A>G	c.(547-549)tAc>tGc	p.Y183C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	243	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGCAGCAGTAGGGCTTGCA	0.617													5	304					0	0	0	0	C	1642776	T	C	1642776	3	2	390	1	0	0	0	0	1	0	0	0	8616	1638	57	5	142	5	KRTAP5-4	11	1642776	Missense_Mutation	SNP	T	TCGA-DQ-7590-01A-11D-2229-08		1642776	133363740	30	75101	1013	2									
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642784	1642784	+	Silent	SNP	G	G	A																															gactggcagcagtagggcttGcagcagctggactggcagca																										TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:1642784G>A	ENST00000399682.1	-	1	584	c.540C>T	c.(538-540)tgC>tgT	p.C180C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	240	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGTAGGGCTTGCAGCAGCTGG	0.607													5	315					0	0	0	0	A	1642784	G	A	1642784	2	1	390	1	0	0	0	0	0	0	0	1	8616	1311	46	4		4	KRTAP5-4	11	1642784	Silent	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	8	1642784	133363732	31	75102	1013	2									
FOLH1	2346	broad.mit.edu	37	chr11	49168484	49168484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgttgtggctgcttggagCatagatgacatgcctgttga	7	14	13	7	0	0	3	0	2	0	1	0	4	0	4	1	2	3	5	1	2	1	5			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:49168484C>T	ENST00000340334.7	-	20	2400	c.2032G>A	c.(2032-2034)Gct>Act	p.A678T	FOLH1_ENST00000343844.4_Missense_Mutation_p.A385T|FOLH1_ENST00000256999.2_Missense_Mutation_p.A693T|FOLH1_ENST00000533034.1_Missense_Mutation_p.A647T|FOLH1_ENST00000356696.3_Missense_Mutation_p.A662T	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	693					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTGCTTGGAGCATAGATGACA	0.438													26	92					0	0	0	0	T	49168484	C	T	49168484	3	4	390	1	0	0	0	0	1	0	0	0	6024	710	25	4	179	4	FOLH1	11	49168484	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	47525700	49168484	85838032	32	75103											
ARRB1	408	broad.mit.edu	37	chr11	74987886	74987886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgtgcccacttactcaGcctcttccatggcaacaggg	8	10	9	14	0	2	0	1	0	1	0	3	1	3	0	3	2	4	1	3	2	2	3			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:74987886G>T	ENST00000420843.2	-	10	870	c.773C>A	c.(772-774)gCt>gAt	p.A258D	ARRB1_ENST00000360025.3_Missense_Mutation_p.A258D|ARRB1_ENST00000393505.4_Missense_Mutation_p.A258D	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	258					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CACTTACTCAGCCTCTTCCAT	0.537													7	37					0.00307968	0.00311967	1	0	T	74987886	G	T	74987886	3	4	390	1	0	0	0	0	1	0	0	0	984	971	34	4	511	4	ARRB1	11	74987886	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	25819402	74987886	60018630	33	75104											
C11orf53	341032	broad.mit.edu	37	chr11	111156492	111156492	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcccagcttgagtccGggagcatcgcccagcacagg	7	6	12	16	2	1	1	0	1	1	0	4	2	2	2	4	2	3	3	4	2	0	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:111156492G>C	ENST00000280325.4	+	4	571	c.424G>C	c.(424-426)Ggg>Cgg	p.G142R		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	142										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GCTTGAGTCCGGGAGCATCGC	0.642													28	45					0	0	0	0	C	111156492	G	C	111156492	3	2	390	1	0	0	0	0	1	0	0	0	1659	1116	39	3	434	3	C11orf53	11	111156492	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	36168606	111156492	23850024	34	75105											
SLCO1C1	53919	broad.mit.edu	37	chr12	20893144	20893144	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactgcacttgtgtgggAattgcagcttctaaatccgg	10	12	10	9	1	1	0	0	0	1	0	2	1	2	1	1	2	5	3	1	2	5	5			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr12:20893144A>G	ENST00000381552.1	+	12	1943	c.1575A>G	c.(1573-1575)ggA>ggG	p.G525G	SLCO1C1_ENST00000266509.2_Silent_p.G525G|SLCO1C1_ENST00000540354.1_Silent_p.G476G|SLCO1C1_ENST00000545102.1_Silent_p.G407G|SLCO1C1_ENST00000545604.1_Silent_p.G525G			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	525	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTTGTGTGGGAATTGCAGCTT	0.343													7	88					0	0	0	0	G	20893144	A	G	20893144	2	3	390	1	0	0	0	0	0	0	0	1	14813	233	9	5		5	SLCO1C1	12	20893144	Silent	SNP	A	TCGA-DQ-7590-01A-11D-2229-08		20893144	112958751	35	75106											
MARCH9	92979	broad.mit.edu	37	chr12	58152383	58152383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcctctgtctaccgcatCttcaagcgctggcaggcagt	6	10	11	14	2	4	0	1	0	3	0	5	0	5	0	2	3	2	5	2	3	2	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr12:58152383C>T	ENST00000266643.5	+	4	1175	c.744C>T	c.(742-744)atC>atT	p.I248I	MARCH9_ENST00000548358.1_Silent_p.I135I	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	248						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCTACCGCATCTTCAAGCGCT	0.517													7	18					0	0	0	0	T	58152383	C	T	58152383	2	4	390	1	0	0	0	0	0	0	0	1	9377	903	32	2		2	MARCH9	12	58152383	Silent	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	37259239	58152383	75699512	36	75107											
TMCC3	57458	broad.mit.edu	37	chr12	94972193	94972193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtcccgcgagcgctcgtAggcctggtaggccaccttct	5	9	13	14	4	1	0	0	0	1	0	3	2	2	0	4	3	1	3	4	3	2	3			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr12:94972193A>G	ENST00000261226.4	-	3	1239	c.1108T>C	c.(1108-1110)Tac>Cac	p.Y370H	TMCC3_ENST00000551457.1_Missense_Mutation_p.Y339H	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	370						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GAGCGCTCGTAGGCCTGGTAG	0.542													15	36					0	0	0	0	G	94972193	A	G	94972193	3	3	390	1	0	0	0	0	1	0	0	0	16088	420	15	5	333	5	TMCC3	12	94972193	Missense_Mutation	SNP	A	TCGA-DQ-7590-01A-11D-2229-08	36819810	94972193	38879702	37	75108											
EP400	57634	broad.mit.edu	37	chr12	132446058	132446058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttcgagaggacaccCggcgtgctgctccccggggc	4	6	16	15	4	0	1	0	0	0	1	2	3	1	2	3	5	2	3	3	5	0	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr12:132446058C>T	ENST00000333577.4	+	2	1003	c.894C>T	c.(892-894)ccC>ccT	p.P298P	EP400_ENST00000332482.4_Silent_p.P298P|EP400_ENST00000389561.2_Silent_p.P298P|EP400_ENST00000389562.2_Silent_p.P298P|EP400_ENST00000330386.6_Silent_p.P298P			Q96L91	EP400_HUMAN	E1A binding protein p400	298					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAGGACACCCGGCGTGCTGC	0.726													3	9					0	0	0	0	T	132446058	C	T	132446058	2	4	390	1	0	0	0	0	0	0	0	1	5187	639	23	1		1	EP400	12	132446058	Silent	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	37473865	132446058	1405837	38	75109											
DCT	1638	broad.mit.edu	37	chr13	95112392	95112392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcaaagcgtttgtccCgttcaggaaggaatgaacca	12	9	12	8	2	1	1	1	1	0	0	2	3	2	3	2	3	2	3	2	3	4	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr13:95112392C>T	ENST00000377028.5	-	6	1545	c.1132G>A	c.(1132-1134)Ggg>Agg	p.G378R	DCT_ENST00000446125.1_Missense_Mutation_p.G378R	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	378					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GCGTTTGTCCCGTTCAGGAAG	0.398													10	40					0	0	0	0	T	95112392	C	T	95112392	3	4	390	1	0	0	0	0	1	0	0	0	4336	652	23	1	546	1	DCT	13	95112392	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08		95112392	20057486	39	75110											
OR4M2	390538	broad.mit.edu	37	chr15	22369323	22369323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcccacattaccattgtgGtgctaatgtttgggccatcc	8	14	8	11	0	0	0	0	0	0	0	2	0	2	0	4	2	2	2	4	2	2	5			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr15:22369323G>A	ENST00000332663.2	+	1	846	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TACCATTGTGGTGCTAATGTT	0.443													20	358					0	0	0	0	A	22369323	G	A	22369323	3	1	390	1	0	0	0	0	1	0	0	0	11147	1261	44	4	750	4	OR4M2	15	22369323	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08		22369323	80162069	40	75111											
RFX7	64864	broad.mit.edu	37	chr15	56386717	56386717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaattaccaaccccaCtatacccattattcatccat	13	12	2	14	0	1	2	1	2	0	0	2	2	2	2	5	0	3	0	5	0	6	5			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr15:56386717C>T	ENST00000423270.1	-	9	3208	c.3209G>A	c.(3208-3210)aGt>aAt	p.S1070N	RFX7_ENST00000317318.6_Missense_Mutation_p.S1070N|RFX7_ENST00000559447.2_Missense_Mutation_p.S973N|RFX7_ENST00000422057.1_Missense_Mutation_p.S973N	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	973					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCAACCCCACTATACCCATT	0.473													27	73					0	0	0	0	T	56386717	C	T	56386717	3	4	390	1	0	0	0	0	1	0	0	0	13350	565	20	4	1177	4	RFX7	15	56386717	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	34017394	56386717	46144675	41	75112											
EEF2K	29904	broad.mit.edu	37	chr16	22260092	22260092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtacaacgccgtcaccGgggaatggctggatgatgaa	11	6	15	9	3	1	2	1	2	0	0	1	4	1	4	2	5	2	3	2	5	4	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr16:22260092G>A	ENST00000263026.5	+	4	838	c.364G>A	c.(364-366)Ggg>Agg	p.G122R		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	122	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CGCCGTCACCGGGGAATGGCT	0.567													17	39					0	0	0	0	A	22260092	G	A	22260092	3	1	390	1	0	0	0	0	1	0	0	0	4966	1116	39	1	374	1	EEF2K	16	22260092	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08		22260092	68094661	42	75113											
CETP	1071	broad.mit.edu	37	chr16	57007305	57007305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaccttctcgcccacactGctgggggactcccgcatgct	5	8	9	19	2	1	0	0	0	1	0	3	1	2	1	4	2	2	3	4	2	0	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr16:57007305G>A	ENST00000200676.3	+	9	943	c.813G>A	c.(811-813)ctG>ctA	p.L271L	CETP_ENST00000566128.1_Silent_p.L206L|CETP_ENST00000379780.2_Intron	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	271					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CGCCCACACTGCTGGGGGACT	0.597													30	36					0	0	0	0	A	57007305	G	A	57007305	2	1	390	1	0	0	0	0	0	0	0	1	3306	1306	46	4		4	CETP	16	57007305	Silent	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	34747213	57007305	33347448	43	75114											
RGS9	8787	broad.mit.edu	37	chr17	63221442	63221442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggcccctcctaaggcccGcatggctctgtccttcagca	6	8	10	17	1	2	0	1	0	1	0	4	0	4	0	5	3	1	3	5	3	1	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr17:63221442G>A	ENST00000449996.3	+	18	1793	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	RGS9_ENST00000443584.3_Missense_Mutation_p.R574H|RGS9_ENST00000262406.9_Missense_Mutation_p.R577H	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	577				P -> L (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.R577H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCTAAGGCCCGCATGGCTCTG	0.682													4	201					0	0	0	0	A	63221442	G	A	63221442	3	1	390	1	0	0	0	0	1	0	0	0	13396	1087	38	1	1855	1	RGS9	17	63221442	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08		63221442	17973768	44	75115											
RHBDF2	79651	broad.mit.edu	37	chr17	74467882	74467882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaccaggatgagtgcccGcttgcggtacttgtcgctgg	6	10	14	11	3	0	2	0	2	0	0	1	3	0	3	2	3	3	3	2	3	1	3			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr17:74467882G>A	ENST00000591885.1	-	19	2867	c.2317C>T	c.(2317-2319)Cgg>Tgg	p.R773W	RHBDF2_ENST00000313080.4_Missense_Mutation_p.R802W|RHBDF2_ENST00000389760.4_Missense_Mutation_p.R773W			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	802					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ATGAGTGCCCGCTTGCGGTAC	0.617													6	16					0	0	0	0	A	74467882	G	A	74467882	3	1	390	1	0	0	0	0	1	0	0	0	13403	1086	38	1	170	1	RHBDF2	17	74467882	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	11246440	74467882	6727328	45	75116											
ST8SIA5	29906	broad.mit.edu	37	chr18	44261973	44261973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcacagtgaccacatcCgtcttcacccccacatccat	9	9	6	17	1	3	1	2	1	1	0	5	1	5	1	5	1	0	1	5	1	0	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr18:44261973C>T	ENST00000315087.7	-	6	1284	c.624G>A	c.(622-624)acG>acA	p.T208T	ST8SIA5_ENST00000536490.1_Silent_p.T177T|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.T244T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	208					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGACCACATCCGTCTTCACCC	0.532													5	26					0	0	0	0	T	44261973	C	T	44261973	2	4	390	1	0	0	0	0	0	0	0	1	15325	639	23	1		1	ST8SIA5	18	44261973	Silent	SNP	C	TCGA-DQ-7590-01A-11D-2229-08		44261973	33815275	46	75117											
PDE4A	5141	broad.mit.edu	37	chr19	10574494	10574494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggaacatggtgcactgtgCcgacctcagcaaccccacca	10	5	9	17	2	1	0	1	0	0	0	1	2	1	1	6	2	5	2	6	2	2	0			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:10574494C>T	ENST00000380702.2	+	15	1703	c.1703C>T	c.(1702-1704)gCc>gTc	p.A568V	PDE4A_ENST00000440014.2_Missense_Mutation_p.A529V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A568V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A590V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A564V|PDE4A_ENST00000344979.3_Missense_Mutation_p.A351V			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	590	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GTGCACTGTGCCGACCTCAGC	0.617													4	102					0	0	0	0	T	10574494	C	T	10574494	3	4	390	1	0	0	0	0	1	0	0	0	11710	739	26	4	2280	4	PDE4A	19	10574494	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08		10574494	48554489	47	75118											
ARHGEF1	9138	broad.mit.edu	37	chr19	42409386	42409386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctgcccctgcctctcGccctaagccccggcccagcc	4	6	8	23	2	1	0	0	0	1	0	3	0	2	0	9	1	4	0	9	1	1	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:42409386G>A	ENST00000599846.1	+	25	2602	c.2477G>A	c.(2476-2478)cGc>cAc	p.R826H	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R737H|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R785H|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R752H|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R770H			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	770					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCTGCCTCTCGCCCTAAGCCC	0.667													21	48					0	0	0	0	A	42409386	G	A	42409386	3	1	390	1	0	0	0	0	1	0	0	0	895	1087	38	1	2448	1	ARHGEF1	19	42409386	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	31834892	42409386	16719597	48	75119											
ZNF285	26974	broad.mit.edu	37	chr19	44891069	44891069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccctgtgtggactctctgGtgaatgtgaaggtgtgtaca	7	13	13	8	0	1	2	0	2	1	0	3	3	2	3	2	3	1	1	2	3	3	1			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:44891069G>C	ENST00000330997.4	-	4	1402	c.1338C>G	c.(1336-1338)caC>caG	p.H446Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.H446Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.H453Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGACTCTCTGGTGAATGTGAA	0.473													17	71					0	0	0	0	C	44891069	G	C	44891069	3	2	390	1	0	0	0	0	1	0	0	0	17917	1252	44	4	438	4	ZNF285	19	44891069	Missense_Mutation	SNP	G	TCGA-DQ-7590-01A-11D-2229-08	2481683	44891069	14237914	49	75120											
BCL3	602	broad.mit.edu	37	chr19	45262784	45262784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttcttccttccttcccCatctccacccgccttcctgc	4	14	2	21	1	2	0	0	0	2	0	7	0	6	0	8	0	1	0	8	0	1	5			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:45262784C>T	ENST00000164227.5	+	9	1521	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	426	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTTCCTTCCCCATCTCCACCC	0.682			T	IGH@	CLL								79	199					0	0	0	0	T	45262784	C	T	45262784	3	4	390	1	0	0	0	0	1	0	0	0	1379	594	21	4	1311	4	BCL3	19	45262784	Missense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	371715	45262784	13866199	50	75121											
NLRP9	338321	broad.mit.edu	37	chr19	56244125	56244125	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttttgggagtttatttCaaggtcttctcccctctcta	5	18	9	9	0	4	0	1	0	3	0	6	1	4	1	2	3	0	2	2	3	3	7			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:56244125C>A	ENST00000332836.2	-	2	1099	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	358	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGTTTATTTCAAGGTCTTCT	0.438													22	123					8.04996e-18	8.84362e-18	1	0	A	56244125	C	A	56244125	4	1	390	1	0	0	0	0	0	1	0	0	10554	835	29	2	1935	2	NLRP9	19	56244125	Nonsense_Mutation	SNP	C	TCGA-DQ-7590-01A-11D-2229-08	10981341	56244125	2884858	51	75122											
ZFP64	55734	broad.mit.edu	37	chr20	50769882	50769882	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgcacttgaaaggcttctcCcccgagtgcacccgcatgtg	7	9	10	15	3	1	1	0	1	1	0	3	2	1	1	3	1	1	4	3	1	1	2			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr20:50769882C>A	ENST00000216923.4	-	6	1198	c.849G>T	c.(847-849)ggG>ggT	p.G283G	ZFP64_ENST00000371515.4_Silent_p.G281G|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.G229G|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGGCTTCTCCCCCGAGTGCA	0.547													15	52					0.000308642	0.000316764	1	0	A	50769882	C	A	50769882	2	1	390	1	0	0	0	0	0	0	0	1	17747	610	22	4		4	ZFP64	20	50769882	Silent	SNP	C	TCGA-DQ-7590-01A-11D-2229-08		50769882	12255638	52	75123											
IFNAR1	3454	broad.mit.edu	37	chr21	34725168	34725168	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatggatgaaaagctgaaTaaaagcagtgtttttagtga	16	11	10	4	0	0	3	0	3	0	0	0	4	0	4	1	1	2	3	1	1	6	4			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr21:34725168T>A	ENST00000270139.3	+	9	1400	c.1248T>A	c.(1246-1248)aaT>aaA	p.N416K	IFNAR1_ENST00000416947.2_Missense_Mutation_p.N347K|IFNAR1_ENST00000442357.2_Intron	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	416	Fibronectin type-III 3.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AAAAGCTGAATAAAAGCAGTG	0.323													15	61					0	0	0	0	A	34725168	T	A	34725168	3	1	390	1	0	0	0	0	1	0	0	0	7597	1403	49	5	1282	5	IFNAR1	21	34725168	Missense_Mutation	SNP	T	TCGA-DQ-7590-01A-11D-2229-08		34725168	13404727	53	75124											
NLGN4X	57502	broad.mit.edu	37	chrX	5811300	5811300	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttaattcggtggaataaTctcgtttggtttcaatgagg	10	15	10	6	2	2	1	1	1	1	0	4	2	2	2	0	4	0	2	0	4	4	5			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chrX:5811300T>A	ENST00000381095.3	-	6	2636	c.2009A>T	c.(2008-2010)gAt>gTt	p.D670V	NLGN4X_ENST00000275857.6_Missense_Mutation_p.D670V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D670V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D670V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D690V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	670					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGTGGAATAATCTCGTTTGGT	0.498													66	51					0	0	0	0	A	5811300	T	A	5811300	3	1	390	1	0	0	0	0	1	0	0	0	10534	1435	50	5	445	5	NLGN4X	23	5811300	Missense_Mutation	SNP	T	TCGA-DQ-7590-01A-11D-2229-08		5811300	149459260	54	75125											
COL11A1	1301	broad.mit.edu	37	chr1	103405905	103405905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtctccgtcttccccagggGagccggcaggaccagctggc	5	7	14	15	2	2	0	0	0	2	0	4	2	3	2	5	5	2	2	5	5	0	1			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:103405905G>C	ENST00000358392.2	-	43	3715	c.3398C>G	c.(3397-3399)tCc>tGc	p.S1133C	COL11A1_ENST00000353414.4_Missense_Mutation_p.S1082C|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1121C|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1005C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1121	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCCCAGGGGAGCCGGCAGG	0.473													17	33					0	0	0	0	C	103405905	G	C	103405905	3	2	391	1	0	0	0	0	1	0	0	0	3697	1174	41	2	2158	2	COL11A1	1	103405905	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		103405905	145844716	1	75126											
TMOD4	29765	broad.mit.edu	37	chr1	151143016	151143016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttcattgtttcgggtcaTggcctgggctgcccgagctc	4	13	13	11	2	2	0	2	0	0	0	4	1	2	0	2	3	2	4	2	3	1	4	rs143662204	byFrequency	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:151143016T>C	ENST00000416280.2	-	7	886	c.787A>G	c.(787-789)Atg>Gtg	p.M263V				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	332					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	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)			TTTCGGGTCATGGCCTGGGCT	0.542													6	123					0	0	0	0	C	151143016	T	C	151143016	3	2	391	1	0	0	0	0	1	0	0	0	16330	1464	51	5	51	5	TMOD4	1	151143016	Missense_Mutation	SNP	T	TCGA-DQ-7591-01A-11D-2078-08	47737111	151143016	98107605	2	75127											
OLFML2B	25903	broad.mit.edu	37	chr1	161954641	161954641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctaccagggtgttgccgTagtaatagttggttacgtaa	10	13	11	7	2	1	0	0	0	1	0	1	0	1	0	2	2	3	6	2	2	6	8			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:161954641T>C	ENST00000294794.3	-	7	2027	c.1604A>G	c.(1603-1605)tAc>tGc	p.Y535C	OLFML2B_ENST00000367938.1_Missense_Mutation_p.Y18C|OLFML2B_ENST00000367940.2_Missense_Mutation_p.Y536C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	535	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGTGTTGCCGTAGTAATAGTT	0.542													42	79					0	0	0	0	C	161954641	T	C	161954641	3	2	391	1	0	0	0	0	1	0	0	0	10929	1638	57	5	656	5	OLFML2B	1	161954641	Missense_Mutation	SNP	T	TCGA-DQ-7591-01A-11D-2078-08	10811625	161954641	87295980	3	75128											
ALK	238	broad.mit.edu	37	chr2	29455179	29455179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctttacctgcggctcCggaattgccgtttagcccta	6	11	10	14	4	0	0	0	0	0	0	1	1	1	1	4	2	5	3	4	2	4	6	rs148001139		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:29455179C>T	ENST00000389048.3	-	15	3529	c.2623G>A	c.(2623-2625)Gga>Aga	p.G875R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	875	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTGCGGCTCCGGAATTGCCG	0.617			"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				6	91					0	0	0	0	T	29455179	C	T	29455179	3	4	391	1	0	0	0	0	1	0	0	0	525	661	23	1	2299	1	ALK	2	29455179	Missense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08		29455179	213744194	4	75129											
SCN1A	6323	broad.mit.edu	37	chr2	166848284	166848284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgagaggcggttcaagcGcagctgcaaactgagataat	13	8	13	7	2	1	2	1	2	0	2	1	5	1	2	0	2	4	4	0	2	3	3			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:166848284G>A	ENST00000423058.2	-	26	5518	c.5501C>T	c.(5500-5502)gCg>gTg	p.A1834V	SCN1A_ENST00000303395.4_Missense_Mutation_p.A1834V|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1806V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1823V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1834						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGGTTCAAGCGCAGCTGCAAA	0.458													43	64					0	0	0	0	A	166848284	G	A	166848284	3	1	391	1	0	0	0	0	1	0	0	0	14001	1087	38	1	532	1	SCN1A	2	166848284	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08	137393105	166848284	76351089	5	75130											
CDK15	65061	broad.mit.edu	37	chr2	202700438	202700438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctctggtaccggccccCtgatgctttgctgggagcca	5	9	12	15	1	1	1	0	1	1	0	1	3	1	2	5	3	4	3	5	3	1	2			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:202700438C>T	ENST00000450471.2	+	8	889	c.803C>T	c.(802-804)cCt>cTt	p.P268L	CDK15_ENST00000260967.2_Missense_Mutation_p.P217L|CDK15_ENST00000374598.4_Missense_Mutation_p.P268L|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Missense_Mutation_p.P217L|CDK15_ENST00000434439.1_Missense_Mutation_p.P268L	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	268	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TACCGGCCCCCTGATGCTTTG	0.522													15	29					0	0	0	0	T	202700438	C	T	202700438	3	4	391	1	0	0	0	0	1	0	0	0	3160	681	24	4	676	4	CDK15	2	202700438	Missense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08	35852154	202700438	40498935	6	75131											
MAP2	4133	broad.mit.edu	37	chr2	210594941	210594941	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaacttcagagagcatgcTaaagcccgtgtggaccatgg	11	9	12	9	1	1	2	1	1	0	1	1	4	1	3	2	2	4	2	2	2	3	3			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:210594941T>A	ENST00000360351.4	+	15	5810	c.5304T>A	c.(5302-5304)gcT>gcA	p.A1768A	MAP2_ENST00000199940.6_Silent_p.A500A|MAP2_ENST00000447185.1_Silent_p.A1764A|MAP2_ENST00000392194.1_Silent_p.A412A|MAP2_ENST00000361559.4_Silent_p.A412A	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1768					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAGAGCATGCTAAAGCCCGTG	0.512													9	17					0	0	0	0	A	210594941	T	A	210594941	2	1	391	1	0	0	0	0	0	0	0	1	9304	1509	53	5		5	MAP2	2	210594941	Silent	SNP	T	TCGA-DQ-7591-01A-11D-2078-08	7894503	210594941	32604432	7	75132											
COL4A4	1286	broad.mit.edu	37	chr2	228009238	228009238	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaatgtacttaccccataTacatattgtacagaaaagag	16	11	7	7	0	0	3	0	1	0	2	0	3	0	3	2	0	4	2	2	0	9	7			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:228009238T>A	ENST00000396625.3	-	3	315	c.108A>T	c.(106-108)gtA>gtT	p.V36V	COL4A4_ENST00000329662.7_Silent_p.V36V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	36					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCCCATATACATATTGTA	0.308													19	45					0	0	0	0	A	228009238	T	A	228009238	2	1	391	1	0	0	0	0	0	0	0	1	3723	1393	49	5		5	COL4A4	2	228009238	Silent	SNP	T	TCGA-DQ-7591-01A-11D-2078-08	17414297	228009238	15190135	8	75133											
SENP2	59343	broad.mit.edu	37	chr3	185316239	185316239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaacagtctctacaatgCtgccagcttatttggattcc	12	12	7	10	0	1	0	0	0	1	0	3	2	2	1	2	1	5	2	2	1	5	4			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr3:185316239C>T	ENST00000296257.5	+	3	437	c.197C>T	c.(196-198)gCt>gTt	p.A66V	SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.A56V|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	66					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCTACAATGCTGCCAGCTTA	0.393													11	36					0	0	0	0	T	185316239	C	T	185316239	3	4	391	1	0	0	0	0	1	0	0	0	14134	797	28	4	207	4	SENP2	3	185316239	Missense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08		185316239	12706191	9	75134											
SLIT2	9353	broad.mit.edu	37	chr4	20597445	20597445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctatacgtgcatatgccCcgaaggttacaggtaaaagc	12	8	11	10	3	0	0	0	0	0	0	0	1	0	0	2	3	5	4	2	3	7	5			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr4:20597445C>T	ENST00000504154.1	+	31	3560	c.3308C>T	c.(3307-3309)cCc>cTc	p.P1103L	SLIT2_ENST00000503837.1_Missense_Mutation_p.P1099L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1095L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1116L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1103	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCATATGCCCCGAAGGTTAC	0.438													19	36					0	0	0	0	T	20597445	C	T	20597445	3	4	391	1	0	0	0	0	1	0	0	0	14828	623	22	4	3430	4	SLIT2	4	20597445	Missense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08		20597445	170556831	10	75135											
CHD1	1105	broad.mit.edu	37	chr5	98233988	98233988	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaggagtggtttttGattggttcctgctaaaatac	11	16	9	5	0	0	1	0	1	0	0	1	2	1	2	1	3	2	3	1	3	5	8			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:98233988G>T	ENST00000284049.3	-	9	1486	c.1337C>A	c.(1336-1338)tCa>tAa	p.S446*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	446	Chromo 2.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGTGGTTTTTGATTGGTTCCT	0.328													9	31					0.000442599	0.000474788	1	0	T	98233988	G	T	98233988	4	4	391	1	0	0	0	0	0	1	0	0	3352	1294	45	2	3903	2	CHD1	5	98233988	Nonsense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		98233988	82681272	11	75136											
PCDHA11	56138	broad.mit.edu	37	chr5	140250616	140250616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaggcagactcgccgcGccaccgacttctagtactgg	8	6	13	14	5	1	1	0	0	1	1	2	4	1	2	3	3	1	2	3	3	2	3			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:140250616G>A	ENST00000398640.2	+	1	1928	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGCCGCGCCACCGACTT	0.687													20	41					0	0	0	0	A	140250616	G	A	140250616	3	1	391	1	0	0	0	0	1	0	0	0	11592	1087	38	1	1930	1	PCDHA11	5	140250616	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08	42016628	140250616	40664644	12	75137											
FAT2	2196	broad.mit.edu	37	chr5	150922619	150922619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatacaaaggttcagaaaatTtcggtaaggatactttttta	15	15	7	4	1	1	1	1	0	0	1	2	2	1	2	0	3	2	2	0	3	8	9			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:150922619T>C	ENST00000261800.5	-	9	8081	c.8069A>G	c.(8068-8070)aAa>aGa	p.K2690R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2690	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGAAAATTTCGGTAAGGA	0.463													26	40					0	0	0	0	C	150922619	T	C	150922619	3	2	391	1	0	0	0	0	1	0	0	0	5735	1841	64	5	5040	5	FAT2	5	150922619	Missense_Mutation	SNP	T	TCGA-DQ-7591-01A-11D-2078-08	10672003	150922619	29992641	13	75138											
POLB	5423	broad.mit.edu	37	chr8	42196204	42196204	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcaccgacatgctcacagGttagcaccgggccgggcccc	9	5	11	16	3	2	0	2	0	0	0	2	1	2	0	5	3	2	3	5	3	2	1			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr8:42196204G>T	ENST00000265421.4	+	1	231		c.e1+1		POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_Splice_Site	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta						DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ATGCTCACAGGTTAGCACCGG	0.617								DNA polymerases (catalytic subunits)					31	56					1.16021e-09	1.26763e-09	1	0	T	42196204	G	T	42196204	5	4	391	1	0	0	0	0	0	0	1	0	12261	1275	44	4	64	4	POLB	8	42196204	Splice_Site	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		42196204	104167818	14	75139											
GPAA1	8733	broad.mit.edu	37	chr8	145139221	145139221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagggggcctgttgtgcacGcttcagggcaaggtggggct	7	8	18	8	1	1	0	1	0	0	0	1	0	1	0	1	6	1	5	1	6	2	2			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr8:145139221G>A	ENST00000355091.4	+	6	922	c.801G>A	c.(799-801)acG>acA	p.T267T	GPAA1_ENST00000361036.6_Silent_p.T207T|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	267					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGTGCACGCTTCAGGGCA	0.627													17	48					0	0	0	0	A	145139221	G	A	145139221	2	1	391	1	0	0	0	0	0	0	0	1	6636	1074	38	1		1	GPAA1	8	145139221	Silent	SNP	G	TCGA-DQ-7591-01A-11D-2078-08	102943017	145139221	1224801	15	75140											
WDR5	11091	broad.mit.edu	37	chr9	137005026	137005026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggaggagaagaagcccgaGaccgaggccgccagagcaca	14	0	15	12	4	0	4	0	0	0	4	0	8	0	5	4	3	2	1	4	3	2	0			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr9:137005026G>C	ENST00000358625.3	+	2	198	c.27G>C	c.(25-27)gaG>gaC	p.E9D	WDR5_ENST00000425041.1_Missense_Mutation_p.E9D	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	9					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AGAAGCCCGAGACCGAGGCCG	0.657													11	22					0	0	0	0	C	137005026	G	C	137005026	3	2	391	1	0	0	0	0	1	0	0	0	17399	933	33	2	29	2	WDR5	9	137005026	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		137005026	4208405	16	75141											
ARID5B	84159	broad.mit.edu	37	chr10	63851924	63851924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcagcagaagcccctaCggatgatcagcctacagatc	11	5	12	13	2	1	3	1	1	0	2	2	4	1	4	3	3	5	2	3	3	3	2			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:63851924C>T	ENST00000279873.7	+	10	3112	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M	ARID5B_ENST00000309334.5_Missense_Mutation_p.T658M	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	901					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAGCCCCTACGGATGATCAG	0.552													28	46					0	0	0	0	T	63851924	C	T	63851924	3	4	391	1	0	0	0	0	1	0	0	0	924	536	19	1	2740	1	ARID5B	10	63851924	Missense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08		63851924	71682823	17	75142											
KCNMA1	3778	broad.mit.edu	37	chr10	78708933	78708933	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttggggaagttatgaagCgtctcccattcccgcttgag	8	12	11	10	2	1	2	0	2	1	0	3	3	2	3	2	2	1	2	2	2	3	4	rs143184179	by1000genomes	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:78708933C>T	ENST00000286627.5	-	21	3454	c.2502G>A	c.(2500-2502)acG>acA	p.T834T	KCNMA1_ENST00000404771.3_Silent_p.T892T|KCNMA1_ENST00000354353.5_Silent_p.T895T|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.T875T|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.T892T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Silent_p.T834T|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.T834T|KCNMA1_ENST00000406533.3_Silent_p.T896T	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	892					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGTTATGAAGCGTCTCCCATT	0.458													5	117					0	0	0	0	T	78708933	C	T	78708933	2	4	391	1	0	0	0	0	0	0	0	1	8126	755	27	1		1	KCNMA1	10	78708933	Silent	SNP	C	TCGA-DQ-7591-01A-11D-2078-08	14857009	78708933	56825814	18	75143											
ENTPD1	953	broad.mit.edu	37	chr10	97607265	97607265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatataagaaggtagtgaaCgtaagtgacctttacaagac	16	9	11	5	1	0	4	0	2	0	2	0	5	0	5	1	2	2	2	1	2	8	6	rs149509898	by1000genomes	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:97607265C>T	ENST00000371203.5	+	6	1049	c.462C>T	c.(460-462)aaC>aaT	p.N154N	ENTPD1_ENST00000371205.4_Silent_p.N292N|ENTPD1_ENST00000371207.3_Silent_p.N304N|ENTPD1_ENST00000543964.1_Silent_p.N184N|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.N154N|ENTPD1_ENST00000453258.2_Silent_p.N299N|RP11-429G19.3_ENST00000433113.1_RNA	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGGTAGTGAACGTAAGTGACC	0.418													26	46					0	0	0	0	T	97607265	C	T	97607265	2	4	391	1	0	0	0	0	0	0	0	1	5176	535	19	1		1	ENTPD1	10	97607265	Silent	SNP	C	TCGA-DQ-7591-01A-11D-2078-08	18898332	97607265	37927482	19	75144											
ELP4	26610	broad.mit.edu	37	chr11	31616337	31616337	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttccagcaccattactTgatgataaatgtaaaaagga	17	10	7	7	0	0	2	0	2	0	0	1	4	1	3	2	1	3	2	2	1	7	5			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:31616337T>A	ENST00000395934.2	+	4	409	c.402T>A	c.(400-402)ctT>ctA	p.L134L	ELP4_ENST00000379163.5_Silent_p.L134L|ELP4_ENST00000350638.5_Silent_p.L134L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	134					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CACCATTACTTGATGATAAAT	0.289													11	26					0	0	0	0	A	31616337	T	A	31616337	2	1	391	1	0	0	0	0	0	0	0	1	5120	1799	63	5		5	ELP4	11	31616337	Silent	SNP	T	TCGA-DQ-7591-01A-11D-2078-08		31616337	103390179	20	75145											
QSER1	79832	broad.mit.edu	37	chr11	32955375	32955375	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacacaggtccttttagaTtctgcctgtgatttacaaat	12	15	6	8	0	1	2	0	1	1	1	2	2	2	2	2	1	3	0	2	1	5	6			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:32955375T>A	ENST00000399302.2	+	4	2519	c.2184T>A	c.(2182-2184)gaT>gaA	p.D728E	QSER1_ENST00000527788.1_Missense_Mutation_p.D489E	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	728	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCCTTTTAGATTCTGCCTGTG	0.408													28	49					0	0	0	0	A	32955375	T	A	32955375	3	1	391	1	0	0	0	0	1	0	0	0	12964	1490	52	5	2190	5	QSER1	11	32955375	Missense_Mutation	SNP	T	TCGA-DQ-7591-01A-11D-2078-08	1339038	32955375	102051141	21	75146											
ABTB2	25841	broad.mit.edu	37	chr11	34176283	34176283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggggatctccatggattCtgttcctccgtagtacagat	7	13	12	9	1	2	1	0	0	2	1	5	3	4	3	3	4	1	3	3	4	2	4			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:34176283C>T	ENST00000435224.2	-	15	3155	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	ABTB2_ENST00000298992.2_Missense_Mutation_p.E725K	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	725							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCATGGATTCTGTTCCTCCG	0.592													24	45					0	0	0	0	T	34176283	C	T	34176283	3	4	391	1	0	0	0	0	1	0	0	0	103	922	32	2	358	2	ABTB2	11	34176283	Missense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08	1220908	34176283	100830233	22	75147											
OR5L1	219437	broad.mit.edu	37	chr11	55578997	55578997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattctccttggactatcaGatgtccctgagttgagagtc	8	14	9	10	0	3	3	2	2	1	2	6	5	4	4	2	1	0	1	2	1	1	4			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:55578997G>A	ENST00000333973.2	+	1	144	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGACTATCAGATGTCCCTGA	0.443													15	113					0	0	0	0	A	55578997	G	A	55578997	3	1	391	1	0	0	0	0	1	0	0	0	11241	942	33	2	57	2	OR5L1	11	55578997	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08	21402714	55578997	79427519	23	75148											
NOX4	50507	broad.mit.edu	37	chr11	89088181	89088181	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatttcggagtcttgactaGatggaggcagtagtaaatct	12	12	12	5	1	2	2	0	1	2	1	3	5	2	4	0	3	0	3	0	3	5	5			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:89088181G>C	ENST00000535633.1	-	13	1404	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.S365C|NOX4_ENST00000424319.1_Missense_Mutation_p.S365C|NOX4_ENST00000534731.1_Missense_Mutation_p.S389C|NOX4_ENST00000532825.1_Missense_Mutation_p.S365C|NOX4_ENST00000531342.1_Missense_Mutation_p.S82C|NOX4_ENST00000527626.1_Missense_Mutation_p.S223C|NOX4_ENST00000528341.1_Missense_Mutation_p.S364C|NOX4_ENST00000375979.3_Missense_Mutation_p.S82C|NOX4_ENST00000263317.4_Missense_Mutation_p.S389C|NOX4_ENST00000542487.1_Missense_Mutation_p.S365C|NOX4_ENST00000343727.5_Missense_Mutation_p.S365C|NOX4_ENST00000413594.2_Missense_Mutation_p.S410C	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	389	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTCTTGACTAGATGGAGGCAG	0.363													6	22					0	0	0	0	C	89088181	G	C	89088181	3	2	391	1	0	0	0	0	1	0	0	0	10628	942	33	2	594	2	NOX4	11	89088181	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08	33509184	89088181	45918335	24	75149											
IQSEC3	440073	broad.mit.edu	37	chr12	247484	247484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggtgtcccggcgcgccGcttgcaccatccaaaccgcc	6	6	10	19	5	0	0	0	0	0	0	2	0	2	0	7	2	2	2	7	2	1	1			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr12:247484G>A	ENST00000538872.1	+	4	1073	c.955G>A	c.(955-957)Gct>Act	p.A319T	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A319T|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A16T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	319	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGGCGCGCCGCTTGCACCAT	0.592													8	128					0	0	0	0	A	247484	G	A	247484	3	1	391	1	0	0	0	0	1	0	0	0	7872	1087	38	1	969	1	IQSEC3	12	247484	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		247484	133604411	25	75150											
PGAM5	192111	broad.mit.edu	37	chr12	133294060	133294060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactcactgggctccgcctgGcaagcttggggttgaagttt	7	11	13	10	1	1	1	1	1	0	0	2	1	2	1	2	4	2	5	2	4	3	3			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr12:133294060G>A	ENST00000498926.2	+	3	464	c.406G>A	c.(406-408)Gca>Aca	p.A136T	PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.A136T	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	136						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCTCCGCCTGGCAAGCTTGGG	0.592													3	31					0	0	0	0	A	133294060	G	A	133294060	3	1	391	1	0	0	0	0	1	0	0	0	11848	1203	42	4	416	4	PGAM5	12	133294060	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08	133046576	133294060	557835	26	75151											
NALCN	259232	broad.mit.edu	37	chr13	101997763	101997763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatagctaaactattccagGttacattcctgtgaacaaca	15	11	6	9	0	0	1	0	1	0	0	2	2	2	1	2	1	5	2	2	1	8	6			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr13:101997763G>T	ENST00000251127.6	-	7	734	c.653C>A	c.(652-654)aCc>aAc	p.T218N	NALCN_ENST00000376196.3_Missense_Mutation_p.T218N|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	218						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTATTCCAGGTTACATTCCT	0.373													20	34					5.03518e-11	5.6052e-11	1	0	T	101997763	G	T	101997763	3	4	391	1	0	0	0	0	1	0	0	0	10218	1261	44	4	4715	4	NALCN	13	101997763	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		101997763	13172115	27	75152											
FBLN5	10516	broad.mit.edu	37	chr14	92336584	92336584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctcagaatgggtactgcGacacatatatccgcagtcgg	11	8	12	10	3	1	1	1	0	0	1	3	2	2	1	1	3	2	3	1	3	4	3			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr14:92336584G>A	ENST00000267620.10	-	12	1623	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	FBLN5_ENST00000342058.4_Missense_Mutation_p.S444L|FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000556154.1_Missense_Mutation_p.S449L			Q9UBX5	FBLN5_HUMAN	fibulin 5	444					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGGGTACTGCGACACATATAT	0.542													26	51					0	0	0	0	A	92336584	G	A	92336584	3	1	391	1	0	0	0	0	1	0	0	0	5745	1059	37	1	19	1	FBLN5	14	92336584	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		92336584	15012956	28	75153											
HERC2	8924	broad.mit.edu	37	chr15	28375741	28375741	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccagtaagagaatcaatCtagagggggaaaaggttcaa	18	6	12	5	0	3	3	2	0	1	3	3	5	3	4	1	3	0	2	1	3	7	3			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:28375741C>T	ENST00000261609.7	-	82	12679		c.e82-1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGAATCAATCTAGAGGGGGA	0.413													43	72					0	0	0	0	T	28375741	C	T	28375741	5	4	391	1	0	0	0	0	0	0	1	0	7108	927	32	2	1982	2	HERC2	15	28375741	Splice_Site	SNP	C	TCGA-DQ-7591-01A-11D-2078-08		28375741	74155651	29	75154											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42133017	42133017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggacctggtgaccggaGatgaccctgtgttgtcagta	9	9	13	10	1	1	3	1	2	0	1	1	5	1	4	4	3	0	2	4	3	1	2			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:42133017G>T	ENST00000382448.4	+	9	967	c.958G>T	c.(958-960)Gat>Tat	p.D320Y	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.D89Y|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.D89Y|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.D320Y	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		89	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GGTGACCGGAGATGACCCTGT	0.577													29	41					3.73148e-12	4.23379e-12	1	0	T	42133017	G	T	42133017	3	4	391	1	0	0	0	0	1	0	0	0	8008	942	33	2	992	2	JMJD7-PLA2G4B	15	42133017	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08	13757276	42133017	60398375	30	75155											
GCOM1	145781	broad.mit.edu	37	chr15	57913836	57913836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggaaaaggtgagaaagCgaatgtatggagactatgat	15	10	13	3	1	0	3	0	2	0	2	0	7	0	4	0	3	1	1	0	3	6	3			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:57913836C>T	ENST00000574161.1	+	4	468	c.349C>T	c.(349-351)Cga>Tga	p.R117*	GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R117*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R117*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380561.2_Intron|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R117*|GCOM1_ENST00000396180.1_Intron	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		117					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGTGAGAAAGCGAATGTATGG	0.403													23	53					0	0	0	0	T	57913836	C	T	57913836	4	4	391	1	0	0	0	0	0	1	0	0	6354	760	27	1	363	1	GCOM1	15	57913836	Nonsense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08	15780819	57913836	44617556	31	75156											
SMG1	23049	broad.mit.edu	37	chr16	18856797	18856807	+	Frame_Shift_Del	DEL	GGAGTCTTCAG	GGAGTCTTCAG	-																															caggctttgcagggttcaatGgagtcttcagtttttctagg																										TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr16:18856797_18856807delGGAGTCTTCAG	ENST00000446231.2	-	39	6575_6585	c.6163_6173delCTGAAGACTCC	c.(6163-6174)afs	p.LKTP2055fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.LKTP2055fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2055					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P2058Q(1)|p.P2054Q(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGGTTCAATGGAGTCTTCAGTTTTTCTAGG	0.455													14	40	---	---	---	---					-	18856807	GGAGTCTTCAG	-	18856797	7	5	391	1	0	1	0	1	0	0	0	0	14883	1348	47	0	4912	0	SMG1	16	18856797	Frame_Shift_Del	DEL	GGAGTCTTCAG	TCGA-DQ-7591-01A-11D-2078-08		18856797	71497956	32	75157											
CDH11	1009	broad.mit.edu	37	chr16	65032649	65032649	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcgatccaacgtcttGgtggcatgaatgttccctga	7	14	9	11	2	3	2	0	2	3	0	6	3	5	2	2	2	1	2	2	2	2	3			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr16:65032649G>A	ENST00000394156.3	-	4	792	c.339C>T	c.(337-339)acC>acT	p.T113T	CDH11_ENST00000268603.4_Silent_p.T113T|CDH11_ENST00000566827.1_5'UTR			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	113	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCAACGTCTTGGTGGCATGAA	0.493			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	6					0	0	0	0	A	65032649	G	A	65032649	2	1	391	1	0	0	0	0	0	0	0	1	3126	1335	47	4		4	CDH11	16	65032649	Silent	SNP	G	TCGA-DQ-7591-01A-11D-2078-08	46175852	65032649	25322104	33	75158											
MYH2	4620	broad.mit.edu	37	chr17	10448712	10448712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggagaagatgtggggCggggcctcctggcgcttttt	6	10	18	7	2	0	3	0	0	0	3	1	5	1	3	2	6	0	1	2	6	1	2			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:10448712C>T	ENST00000245503.5	-	5	840	c.456G>A	c.(454-456)ccG>ccA	p.P152P	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.P152P|MYH2_ENST00000532183.1_Silent_p.P152P	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	152	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGATGTGGGGCGGGGCCTCCT	0.542													10	96					0	0	0	0	T	10448712	C	T	10448712	2	4	391	1	0	0	0	0	0	0	0	1	10105	755	27	1		1	MYH2	17	10448712	Silent	SNP	C	TCGA-DQ-7591-01A-11D-2078-08		10448712	70746498	34	75159											
KIAA0100	9703	broad.mit.edu	37	chr17	26971123	26971123	+	Frame_Shift_Del	DEL	A	A	-																															aagactgacattctggatccAaaaaaagcggaaggagccaa																										TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:26971123delA	ENST00000528896.2	-	2	225	c.151delT	c.(151-153)ggfs	p.W51fs	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	51						extracellular region				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)					TTCTGGATCCAAAAAAAGCGG	0.478											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	136	---	---	---	---					-	26971123	A	-	26971123	7	5	391	1	0	1	0	1	0	0	0	0	8205	130	5	0	6708	0	KIAA0100	17	26971123	Frame_Shift_Del	DEL	A	TCGA-DQ-7591-01A-11D-2078-08	16522411	26971123	54224087	35	75160											
CA4	762	broad.mit.edu	37	chr17	58233927	58233927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctgctcagtgccagTcaagtggggtggaaactgcc	7	9	12	13	0	3	0	2	0	1	0	4	1	3	1	3	3	4	1	3	3	2	0			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:58233927T>C	ENST00000300900.4	+	3	218	c.119T>C	c.(118-120)gTc>gCc	p.V40A		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	40					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCAGTGCCAGTCAAGTGGGGT	0.587													17	35					0	0	0	0	C	58233927	T	C	58233927	3	2	391	1	0	0	0	0	1	0	0	0	2543	1667	58	5	129	5	CA4	17	58233927	Missense_Mutation	SNP	T	TCGA-DQ-7591-01A-11D-2078-08	31262804	58233927	22961283	36	75161											
SLC14A1	6563	broad.mit.edu	37	chr18	43319570	43319570	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctctggcctgcattgcaAtgggaggaatgttcatggcg	7	11	14	9	1	2	0	1	0	1	0	3	2	2	2	1	4	2	4	1	4	2	2			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr18:43319570A>G	ENST00000321925.4	+	8	1121	c.889A>G	c.(889-891)Atg>Gtg	p.M297V	SLC14A1_ENST00000586142.1_Missense_Mutation_p.M297V|SLC14A1_ENST00000589700.1_Silent_p.Q247Q|SLC14A1_ENST00000502059.2_Missense_Mutation_p.M189V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.M165V|SLC14A1_ENST00000402943.2_Missense_Mutation_p.M192V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.M353V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.M353V|SLC14A1_ENST00000591541.1_Start_Codon_SNP_p.M1V|RP11-116O18.3_ENST00000586213.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	297						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTGCATTGCAATGGGAGGAAT	0.562													26	44					0	0	0	0	G	43319570	A	G	43319570	3	3	391	1	0	0	0	0	1	0	0	0	14484	101	4	5	1083	5	SLC14A1	18	43319570	Missense_Mutation	SNP	A	TCGA-DQ-7591-01A-11D-2078-08		43319570	34757678	37	75162											
ZNRF4	148066	broad.mit.edu	37	chr19	5456253	5456253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacctgggctgtcaccccGtgctgaccgtgtcctgggtg	4	9	14	14	3	1	1	1	1	0	0	2	2	2	1	5	2	1	2	5	2	0	0	rs113345491		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr19:5456253G>A	ENST00000222033.4	+	1	828	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	251						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGTCACCCCGTGCTGACCGT	0.682													25	19					0	0	0	0	A	5456253	G	A	5456253	3	1	391	1	0	0	0	0	1	0	0	0	18307	1145	40	1	753	1	ZNRF4	19	5456253	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		5456253	53672730	38	75163											
ZNF835	90485	broad.mit.edu	37	chr19	57175924	57175924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgctcgcccgtgtgcaCgcgccggtgctgggtcaggt	2	7	18	14	6	1	0	1	0	0	0	2	0	1	0	3	4	2	3	3	4	0	0			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr19:57175924C>T	ENST00000537055.2	-	2	874	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCGTGTGCACGCGCCGGTGC	0.716													5	9					0	0	0	0	T	57175924	C	T	57175924	3	4	391	1	0	0	0	0	1	0	0	0	18279	536	19	1	972	1	ZNF835	19	57175924	Missense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08	51719671	57175924	1953059	39	75164											
RALGAPA2	57186	broad.mit.edu	37	chr20	20506898	20506898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaaaaaaagacttacttCtgccattttccgaggcagag	15	9	8	9	1	1	3	0	0	1	3	2	4	2	3	2	1	2	1	2	1	4	4			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr20:20506898C>T	ENST00000202677.6	-	28	3833	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1231					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGACTTACTTCTGCCATTTTC	0.353													7	11					0	0	0	0	T	20506898	C	T	20506898	3	4	391	1	0	0	0	0	1	0	0	0	13096	922	32	2	1978	2	RALGAPA2	20	20506898	Missense_Mutation	SNP	C	TCGA-DQ-7591-01A-11D-2078-08		20506898	42518622	40	75165											
BIK	638	broad.mit.edu	37	chr22	43524565	43524565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcttagaagtttcatGgacggtttcaccacacttaa	11	14	8	8	1	3	1	2	0	1	1	3	3	3	2	1	2	0	3	1	2	3	5			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr22:43524565G>A	ENST00000216115.2	+	4	387	c.324G>A	c.(322-324)atG>atA	p.M108I		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	108					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GAAGTTTCATGGACGGTTTCA	0.512													27	67					0	0	0	0	A	43524565	G	A	43524565	3	1	391	1	0	0	0	0	1	0	0	0	1436	1348	47	4	334	4	BIK	22	43524565	Missense_Mutation	SNP	G	TCGA-DQ-7591-01A-11D-2078-08		43524565	7780001	41	75166											
CDC42	998	broad.mit.edu	37	chr1	22413014	22413014	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttcagtggtctctccAtcttcatttgaaaacgtgaa	9	17	7	8	1	4	2	2	2	2	0	6	2	5	2	1	1	1	1	1	1	3	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:22413014A>G	ENST00000344548.3	+	5	512	c.261A>G	c.(259-261)ccA>ccG	p.P87P	CDC42_ENST00000421089.2_Silent_p.P129P|CDC42_ENST00000400259.1_Silent_p.P87P|CDC42_ENST00000315554.8_Silent_p.P87P|CDC42_ENST00000498236.1_3'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	87					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGGTCTCTCCATCTTCATTTG	0.358													29	33					0	0	0	0	G	22413014	A	G	22413014	2	3	392	1	0	0	0	0	0	0	0	1	3100	204	8	5		5	CDC42	1	22413014	Silent	SNP	A	TCGA-DQ-7592-01A-11D-2078-08		22413014	226837607	1	75167											
CSMD2	114784	broad.mit.edu	37	chr1	34033207	34033207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttacgcacacagaaagggGtcttgcccgaccagtgatga	12	7	11	11	2	1	3	0	2	1	1	1	4	1	3	2	2	2	1	2	2	2	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:34033207G>T	ENST00000373381.4	-	53	8542	c.8366C>A	c.(8365-8367)aCc>aAc	p.T2789N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2766	Sushi 19.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGAAAGGGGTCTTGCCCGA	0.527													10	32					4.68919e-08	5.39967e-08	1	0	T	34033207	G	T	34033207	3	4	392	1	0	0	0	0	1	0	0	0	3977	1261	44	4	2230	4	CSMD2	1	34033207	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	11620193	34033207	215217414	2	75168											
ZFYVE9	9372	broad.mit.edu	37	chr1	52810541	52810541	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagctttttgccttgctctCtgtcctcacctgaaacttct	7	16	5	13	0	3	1	1	1	2	0	5	1	4	1	3	0	4	2	3	0	2	4	rs145347233		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:52810541C>G	ENST00000287727.3	+	18	4213	c.4041C>G	c.(4039-4041)ctC>ctG	p.L1347L	ZFYVE9_ENST00000357206.2_Silent_p.L1288L|ZFYVE9_ENST00000371591.1_Silent_p.L1347L	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1347					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCCTTGCTCTCTGTCCTCACC	0.453													33	70					0	0	0	0	G	52810541	C	G	52810541	2	3	392	1	0	0	0	0	0	0	0	1	17766	900	32	2		2	ZFYVE9	1	52810541	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	18777334	52810541	196440080	3	75169											
SGIP1	84251	broad.mit.edu	37	chr1	67147692	67147692	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccatttttctgatacaTccccggaacatgttactccg	8	13	8	12	2	1	1	0	1	1	0	4	2	4	2	4	2	3	1	4	2	3	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:67147692T>A	ENST00000371037.4	+	15	1032	c.955T>A	c.(955-957)Tcc>Acc	p.S319T	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.S323T|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	319	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTCTGATACATCCCCGGAACA	0.507													33	74					0	0	0	0	A	67147692	T	A	67147692	3	1	392	1	0	0	0	0	1	0	0	0	14293	1435	50	5	1013	5	SGIP1	1	67147692	Missense_Mutation	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	14337151	67147692	182102929	4	75170											
ZNF326	284695	broad.mit.edu	37	chr1	90484343	90484343	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaagatgttatggaaGgtaagtatttaaaacaaatt	19	13	8	1	0	0	2	0	1	0	1	0	3	0	3	0	2	1	3	0	2	9	7			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:90484343G>T	ENST00000340281.4	+	9	1317	c.1174_splice	c.e9+1	p.G392_splice	ZNF326_ENST00000455342.2_Splice_Site_p.G186_splice|ZNF326_ENST00000370447.2_Splice_Site_p.G303_splice	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGTTATGGAAGGTAAGTATTT	0.254													6	24					5.9392e-07	6.63793e-07	1	0	T	90484343	G	T	90484343	5	4	392	1	0	0	0	0	0	0	1	0	17941	1014	35	4	1212	4	ZNF326	1	90484343	Splice_Site	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	23336651	90484343	158766278	5	75171											
TMEM206	55248	broad.mit.edu	37	chr1	212583778	212583778	+	Frame_Shift_Del	DEL	C	C	-																															cgcactcacctggtaagataCccggaccttggactctgacc																										TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:212583778delC	ENST00000261455.4	-	2	259	c.122delG	c.(121-123)gtfs	p.G41fs	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Frame_Shift_Del_p.G102fs	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	41						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGGTAAGATACCCGGACCTTG	0.582													34	218	---	---	---	---					-	212583778	C	-	212583778	7	5	392	1	0	1	0	1	0	0	0	0	16225	507	18	0	958	0	TMEM206	1	212583778	Frame_Shift_Del	DEL	C	TCGA-DQ-7592-01A-11D-2078-08	122099435	212583778	36666843	6	75172											
USH2A	7399	broad.mit.edu	37	chr1	216258090	216258090	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcgggacatccctccCagctgttatacacgttgatt	10	11	9	11	2	0	2	0	2	0	0	2	3	2	3	2	1	3	3	2	1	3	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:216258090C>T	ENST00000366943.2	-	25	5503	c.5117G>A	c.(5116-5118)tGg>tAg	p.W1706*	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.W1706*|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1706	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATCCCTCCCAGCTGTTATA	0.408										HNSCC(13;0.011)			8	57					0	0	0	0	T	216258090	C	T	216258090	4	4	392	1	0	0	0	0	0	1	0	0	17132	595	21	4	10683	4	USH2A	1	216258090	Nonsense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	3674312	216258090	32992531	7	75173											
DISP1	84976	broad.mit.edu	37	chr1	223178344	223178344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctctggcttcccacagctGcactgcccctgagaagacca	9	7	8	17	0	1	2	0	1	1	2	2	3	2	2	5	1	3	3	5	1	1	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:223178344G>C	ENST00000284476.6	+	8	3769	c.3605G>C	c.(3604-3606)tGc>tCc	p.C1202S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1202					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCCCACAGCTGCACTGCCCCT	0.443													8	43					0	0	0	0	C	223178344	G	C	223178344	3	2	392	1	0	0	0	0	1	0	0	0	4576	1319	46	4	3631	4	DISP1	1	223178344	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	6920254	223178344	26072277	8	75174											
CEP170	9859	broad.mit.edu	37	chr1	243388581	243388581	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaggatgttaagctcAttttctgcttagcttctaag	12	14	7	8	0	3	0	1	0	2	0	3	1	3	1	1	1	4	4	1	1	5	6			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:243388581A>G	ENST00000366542.1	-	2	53	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CEP170_ENST00000366543.1_Start_Codon_SNP_p.M1T|CEP170_ENST00000366544.1_Start_Codon_SNP_p.M1T|AC092782.1_ENST00000596590.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTTAAGCTCATTTTCTGCTT	0.413													3	10					0	0	0	0	G	243388581	A	G	243388581	1	3	392	1	0	0	0	0	0	0	0	0	3279	217	8	5		5	CEP170	1	243388581	Translation_Start_Site	SNP	A	TCGA-DQ-7592-01A-11D-2078-08	20210237	243388581	5862040	9	75175											
OR2T11	127077	broad.mit.edu	37	chr1	248790244	248790244	+	Silent	SNP	C	C	T																															agggtgtccatgatggacagCtgactgagcagaaagtacat																										TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:248790244C>T	ENST00000330803.2	-	1	247	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGGACAGCTGACTGAGCA	0.483													12	32					0	0	0	0	T	248790244	C	T	248790244	2	4	392	1	0	0	0	0	0	0	0	1	11089	796	28	4		4	OR2T11	1	248790244	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	5401663	248790244	460377	10	75176	1014	2									
OR2T11	127077	broad.mit.edu	37	chr1	248790246	248790246	+	Missense_Mutation	SNP	G	G	T																															ggtgtccatgatggacagctGactgagcagaaagtacatgg																										TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:248790246G>T	ENST00000330803.2	-	1	245	c.184C>A	c.(184-186)Cag>Aag	p.Q62K		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGACAGCTGACTGAGCAGA	0.488													12	32					3.07112e-06	3.36642e-06	1	0	T	248790246	G	T	248790246	3	4	392	1	0	0	0	0	1	0	0	0	11089	1299	45	2	770	2	OR2T11	1	248790246	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	2	248790246	460375	11	75177	1014	2									
DTNB	1838	broad.mit.edu	37	chr2	25803661	25803661	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggagggtcagccatcAttgtgtctaaaaacatattt	12	11	12	6	0	3	0	2	0	1	0	3	2	3	2	1	4	2	0	1	4	4	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:25803661A>C	ENST00000406818.3	-	7	887	c.638T>G	c.(637-639)aTg>aGg	p.M213R	DTNB_ENST00000405222.1_Missense_Mutation_p.M213R|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.M213R|DTNB_ENST00000545439.1_Missense_Mutation_p.M9R|DTNB_ENST00000407661.3_Missense_Mutation_p.M213R|DTNB_ENST00000288642.8_Missense_Mutation_p.M213R|DTNB_ENST00000407038.3_Missense_Mutation_p.M213R|DTNB_ENST00000404103.3_Missense_Mutation_p.M213R|DTNB_ENST00000496972.2_Missense_Mutation_p.M156R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	213						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCATCATTGTGTCTAA	0.383													5	53					0	0	0	0	C	25803661	A	C	25803661	3	2	392	1	0	0	0	0	1	0	0	0	4825	217	8	5	1301	5	DTNB	2	25803661	Missense_Mutation	SNP	A	TCGA-DQ-7592-01A-11D-2078-08		25803661	217395712	12	75178											
ACOXL	55289	broad.mit.edu	37	chr2	111666433	111666433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaccaaacacagaccctgCggctgatgccccacctggcc	10	4	9	18	1	0	2	0	1	0	1	0	2	0	2	6	2	4	2	6	2	1	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:111666433C>T	ENST00000389811.4	+	11	1080	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ACOXL_ENST00000439055.1_Missense_Mutation_p.R286W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	286					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ACAGACCCTGCGGCTGATGCC	0.547													9	49					0	0	0	0	T	111666433	C	T	111666433	3	4	392	1	0	0	0	0	1	0	0	0	161	759	27	1	894	1	ACOXL	2	111666433	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	85862772	111666433	131532940	13	75179											
AGPS	8540	broad.mit.edu	37	chr2	178326624	178326624	+	Frame_Shift_Del	DEL	A	A	-																															aaatttttgtttttcagcttAaagaaagtggttattgtaca																										TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:178326624delA	ENST00000264167.4	+	9	1020	c.874delA	c.(874-876)aafs	p.K292fs	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	292	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTCAGCTTAAAGAAAGTGG	0.383													30	32	---	---	---	---					-	178326624	A	-	178326624	7	5	392	1	0	1	0	1	0	0	0	0	394	363	13	0	908	0	AGPS	2	178326624	Frame_Shift_Del	DEL	A	TCGA-DQ-7592-01A-11D-2078-08	66660191	178326624	64872749	14	75180											
MAP2	4133	broad.mit.edu	37	chr2	210559034	210559034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctagattccatagccCttggatttaactttggtcgg	7	15	9	10	1	0	1	0	0	0	1	2	2	1	2	3	3	3	0	3	3	3	8			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:210559034C>G	ENST00000360351.4	+	7	2646	c.2140C>G	c.(2140-2142)Ctt>Gtt	p.L714V	MAP2_ENST00000447185.1_Missense_Mutation_p.L710V|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	714					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.L714I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTCCATAGCCCTTGGATTTAA	0.443													46	75					0	0	0	0	G	210559034	C	G	210559034	3	3	392	1	0	0	0	0	1	0	0	0	9304	681	24	4	2154	4	MAP2	2	210559034	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	32232410	210559034	32640339	15	75181											
RBM5	10181	broad.mit.edu	37	chr3	50144992	50144992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgctgctgctcagtggtCatccacccaggtaagatcga	9	11	10	11	1	2	1	2	0	0	1	4	2	3	1	2	2	3	4	2	2	2	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:50144992C>T	ENST00000347869.3	+	12	1206	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	344	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCAGTGGTCATCCACCCAG	0.512													14	18					0	0	0	0	T	50144992	C	T	50144992	3	4	392	1	0	0	0	0	1	0	0	0	13225	838	29	2	1073	2	RBM5	3	50144992	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		50144992	147877438	16	75182											
BBX	56987	broad.mit.edu	37	chr3	107492402	107492402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtggttccaggaaatccGagaggtcttgcaaaggtgct	9	11	13	8	1	1	1	0	0	1	1	3	3	3	2	2	4	2	3	2	4	2	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:107492402G>A	ENST00000415149.2	+	11	2161	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.E612K|BBX_ENST00000406780.1_Missense_Mutation_p.E612K|BBX_ENST00000325805.8_Missense_Mutation_p.E612K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAGGAAATCCGAGAGGTCTTG	0.483													13	50					0	0	0	0	A	107492402	G	A	107492402	3	1	392	1	0	0	0	0	1	0	0	0	1347	1059	37	1	1864	1	BBX	3	107492402	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	57347410	107492402	90530028	17	75183											
LRRC58	116064	broad.mit.edu	37	chr3	120053938	120053938	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggatctctcgaggcagAtatgtcagcaagttattgtg	10	13	12	6	1	2	2	1	1	1	1	4	4	2	3	0	2	1	3	0	2	3	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:120053938A>C	ENST00000295628.3	-	3	773	c.678T>G	c.(676-678)taT>taG	p.Y226*		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	226										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CTCGAGGCAGATATGTCAGCA	0.363													7	37					0	0	0	0	C	120053938	A	C	120053938	4	2	392	1	0	0	0	0	0	1	0	0	9078	340	12	5	445	5	LRRC58	3	120053938	Nonsense_Mutation	SNP	A	TCGA-DQ-7592-01A-11D-2078-08	12561536	120053938	77968492	18	75184											
GTF2E1	2960	broad.mit.edu	37	chr3	120495328	120495328	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcaggtgggcaccaccggGaagcatgggccaccaaaggt	11	4	15	11	1	0	0	0	0	0	0	0	1	0	1	4	5	2	3	4	5	3	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:120495328G>T	ENST00000283875.5	+	4	802	c.709G>T	c.(709-711)Gaa>Taa	p.E237*		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	237					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCACCACCGGGAAGCATGGGC	0.458													25	66					2.00529e-23	2.38128e-23	1	0	T	120495328	G	T	120495328	4	4	392	1	0	0	0	0	0	1	0	0	6906	1175	41	2	719	2	GTF2E1	3	120495328	Nonsense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	441390	120495328	77527102	19	75185											
DNAJB8	165721	broad.mit.edu	37	chr3	128181534	128181534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccattgatcatctcggtGgacgacatcaccgacttgaa	10	10	10	11	3	3	2	2	2	1	0	4	5	3	3	2	3	0	0	2	3	1	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:128181534G>A	ENST00000469083.1	-	2	3112	c.555C>T	c.(553-555)tcC>tcT	p.S185S	DNAJB8_ENST00000319153.3_Silent_p.S185S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	185					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCATCTCGGTGGACGACATCA	0.627													15	39					0	0	0	0	A	128181534	G	A	128181534	2	1	392	1	0	0	0	0	0	0	0	1	4662	1335	47	4		4	DNAJB8	3	128181534	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	7686206	128181534	69840896	20	75186											
BFSP2	8419	broad.mit.edu	37	chr3	133119364	133119364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggagagcaaagccacacGctcgggaaactggggtgccc	10	4	14	13	2	0	1	0	0	0	1	1	3	0	2	3	4	4	2	3	4	2	0	rs148759360		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:133119364G>T	ENST00000302334.2	+	1	526	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	146	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AAAGCCACACGCTCGGGAAAC	0.617													6	18					5.9392e-07	6.63793e-07	1	0	T	133119364	G	T	133119364	3	4	392	1	0	0	0	0	1	0	0	0	1421	1087	38	3	439	3	BFSP2	3	133119364	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	4937830	133119364	64903066	21	75187											
RGS12	6002	broad.mit.edu	37	chr4	3424168	3424168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagcactgctgcattcatctCccggatgggacatcctgcgt	8	10	10	13	2	2	0	1	0	1	0	4	2	3	2	2	2	4	3	2	2	1	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:3424168C>T	ENST00000336727.3	+	11	3808	c.2904C>T	c.(2902-2904)ctC>ctT	p.L968L	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000538395.1_Silent_p.L310L|RGS12_ENST00000382788.3_Silent_p.L968L|RGS12_ENST00000344733.5_Silent_p.L968L|RGS12_ENST00000338806.4_Silent_p.L320L|RGS12_ENST00000306648.7_Silent_p.L366L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	968	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCATTCATCTCCCGGATGGGA	0.627													10	17					0	0	0	0	T	3424168	C	T	3424168	2	4	392	1	0	0	0	0	0	0	0	1	13378	842	30	2		2	RGS12	4	3424168	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		3424168	187730108	22	75188											
DRD5	1816	broad.mit.edu	37	chr4	9785061	9785061	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctttagacaaaataacaCctttcaccccgaatggattc	13	13	4	11	1	2	1	1	0	1	1	3	3	2	2	3	1	1	0	3	1	5	6			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:9785061C>G	ENST00000304374.2	+	1	1804	c.1408C>G	c.(1408-1410)Cct>Gct	p.P470A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	470					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAAAATAACACCTTTCACCCC	0.483													7	37					0	0	0	0	G	9785061	C	G	9785061	3	3	392	1	0	0	0	0	1	0	0	0	4796	507	18	4	1410	4	DRD5	4	9785061	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	6360893	9785061	181369215	23	75189											
UGT2A1	10941	broad.mit.edu	37	chr4	70460413	70460413	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttggttttgggatgTcctaatttgaggatggagtg	9	15	14	3	0	0	1	0	1	0	0	1	4	1	4	1	4	1	2	1	4	2	5			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:70460413T>C	ENST00000503640.1	-	5	1141	c.1084_splice	c.e5-1	p.G362_splice	UGT2A1_ENST00000512704.1_Splice_Site_p.G318_splice|UGT2A2_ENST00000457664.2_Splice_Site_p.G371_splice|UGT2A1_ENST00000286604.4_Splice_Site_p.G362_splice|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Splice_Site_p.G528_splice	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	362					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTGGGATGTCCTAATTTGA	0.418													2	8					0	0	0	0	C	70460413	T	C	70460413	5	2	392	1	0	0	0	0	0	0	1	0	17049	1681	58	5	505	5	UGT2A1	4	70460413	Splice_Site	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	60675352	70460413	120693863	24	75190											
FAT1	2195	broad.mit.edu	37	chr4	187531028	187531029	+	Frame_Shift_Ins	INS	-	-	T																															gtcttggctgaacacaggggINStattatcgttgatatctgtt																										TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:187531028_187531029insT	ENST00000441802.2	-	15	10203_10204	c.9994_9995insA	c.(9994-9996)cccfs	p.P3332fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3332	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAACACAGGGGTATTATCGTTG	0.465										HNSCC(5;0.00058)			9	17	---	---	---	---					T	187531029	-	T	187531028	7	5	392	1	0	1	1	0	0	0	0	0	5734	1261	44	0	3823	0	FAT1	4	187531028	Frame_Shift_Ins	INS	-	TCGA-DQ-7592-01A-11D-2078-08	117070615	187531028	3623248	25	75191											
CMBL	134147	broad.mit.edu	37	chr5	10280584	10280584	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacatgtacttgttcagcCactcaattaaattccttctg	10	15	5	11	0	3	0	2	0	1	0	4	0	4	0	2	0	3	3	2	0	5	7			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:10280584C>T	ENST00000296658.3	-	6	1139	c.719G>A	c.(718-720)tGg>tAg	p.W240*	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	240						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTTGTTCAGCCACTCAATTAA	0.418													7	87					0	0	0	0	T	10280584	C	T	10280584	4	4	392	1	0	0	0	0	0	1	0	0	3606	595	21	4	22	4	CMBL	5	10280584	Nonsense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		10280584	170634676	26	75192											
HCN1	348980	broad.mit.edu	37	chr5	45262631	45262631	+	Frame_Shift_Del	DEL	G	G	-																															tgacaggatggctgatggctGgggggtctgtgtgctgggac																										TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:45262631delG	ENST00000303230.4	-	8	2122	c.2065delC	c.(2065-2067)agfs	p.Q689fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	689						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGATGGCTGGGGGGTCTGT	0.637													7	59	---	---	---	---					-	45262631	G	-	45262631	7	5	392	1	0	1	0	1	0	0	0	0	7046	1357	47	0	611	0	HCN1	5	45262631	Frame_Shift_Del	DEL	G	TCGA-DQ-7592-01A-11D-2078-08	34982047	45262631	135652629	27	75193											
TRIM36	55521	broad.mit.edu	37	chr5	114462268	114462268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctgaattcctccactgcCcattaatgcaaatgctggat	12	11	7	11	0	0	1	0	1	0	0	2	2	2	2	3	1	4	3	3	1	4	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:114462268C>T	ENST00000513154.1	-	10	2409	c.2083G>A	c.(2083-2085)Ggc>Agc	p.G695S	TRIM36_ENST00000282369.3_Missense_Mutation_p.G707S|TRIM36_ENST00000514154.1_Missense_Mutation_p.G552S			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	707	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CCTCCACTGCCCATTAATGCA	0.393													7	14					0	0	0	0	T	114462268	C	T	114462268	3	4	392	1	0	0	0	0	1	0	0	0	16605	623	22	4	71	4	TRIM36	5	114462268	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	69199637	114462268	66452992	28	75194											
TIMD4	91937	broad.mit.edu	37	chr5	156381757	156381757	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgtcacaacagtctctgaAgtgactggtgctgcaaggaa	11	9	11	10	1	2	2	1	2	1	0	4	3	3	3	1	2	3	2	1	2	4	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:156381757A>C	ENST00000274532.2	-	2	125	c.69T>G	c.(67-69)acT>acG	p.T23T	TIMD4_ENST00000407087.3_Silent_p.T23T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	23						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCTCTGAAGTGACTGGTG	0.473													4	8					0	0	0	0	C	156381757	A	C	156381757	2	2	392	1	0	0	0	0	0	0	0	1	15997	59	3	5		5	TIMD4	5	156381757	Silent	SNP	A	TCGA-DQ-7592-01A-11D-2078-08	41919489	156381757	24533503	29	75195											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806706	27806706	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacaacaagcgctcgacCatcacctccagggagatcca	13	6	7	15	2	1	1	1	0	0	1	4	3	3	1	4	1	3	1	4	1	3	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:27806706C>T	ENST00000606613.1	+	1	328	c.267C>T	c.(265-267)acC>acT	p.T89T	HIST1H2BN_ENST00000396980.3_Silent_p.T89T			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	89					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AGCGCTCGACCATCACCTCCA	0.637													20	94					0	0	0	0	T	27806706	C	T	27806706	2	4	392	1	0	0	0	0	0	0	0	1	7203	581	21	4		4	HIST1H2BN	6	27806706	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		27806706	143308361	30	75196											
CLIC5	53405	broad.mit.edu	37	chr6	45882035	45882035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccccatccaggaacttgCgccgggaccccttgtcttcc	6	9	8	18	2	1	0	0	0	1	0	4	2	4	2	7	2	2	0	7	2	1	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:45882035C>T	ENST00000185206.6	-	5	1147	c.995G>A	c.(994-996)cGc>cAc	p.R332H	CLIC5_ENST00000339561.6_Missense_Mutation_p.R173H|CLIC5_ENST00000544153.1_Missense_Mutation_p.R173H|CLIC5_ENST00000486570.1_5'UTR	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	332	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAGGAACTTGCGCCGGGACCC	0.557													13	48					0	0	0	0	T	45882035	C	T	45882035	3	4	392	1	0	0	0	0	1	0	0	0	3559	768	27	1	245	1	CLIC5	6	45882035	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	18075329	45882035	125233032	31	75197											
FBXL4	26235	broad.mit.edu	37	chr6	99353453	99353453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgaggtggatgtattgcaGaggatcacagcaatgctggc	11	10	14	6	0	1	2	1	1	0	1	1	4	1	4	0	4	3	4	0	4	2	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:99353453G>A	ENST00000369244.2	-	6	1380	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	FBXL4_ENST00000229971.1_Silent_p.L318L			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	318	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATGTATTGCAGAGGATCACAG	0.433													12	42					0	0	0	0	A	99353453	G	A	99353453	2	1	392	1	0	0	0	0	0	0	0	1	5766	933	33	2		2	FBXL4	6	99353453	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	53471418	99353453	71761614	32	75198											
EPB41L2	2037	broad.mit.edu	37	chr6	131222184	131222184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaattcactgaggtcgaTgctgccatgttcttctgggt	6	14	12	9	1	3	1	1	1	2	0	4	3	3	2	1	3	2	2	1	3	1	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:131222184T>C	ENST00000337057.3	-	7	1247	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V	EPB41L2_ENST00000525271.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.I356V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.I356V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.I356V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000530148.1_5'UTR	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	356	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGAGGTCGATGCTGCCATGT	0.542													19	94					0	0	0	0	C	131222184	T	C	131222184	3	2	392	1	0	0	0	0	1	0	0	0	5191	1464	51	5	2003	5	EPB41L2	6	131222184	Missense_Mutation	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	31868731	131222184	39892883	33	75199											
PEX3	8504	broad.mit.edu	37	chr6	143793311	143793311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagtgtttctcttaaacAttctttgtcccttttggact	6	21	5	9	0	3	0	0	0	3	0	5	1	4	1	1	1	1	1	1	1	3	8			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:143793311A>G	ENST00000367591.4	+	8	656	c.593A>G	c.(592-594)cAt>cGt	p.H198R		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	198					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTTAAACATTCTTTGTCC	0.333													19	20					0	0	0	0	G	143793311	A	G	143793311	3	3	392	1	0	0	0	0	1	0	0	0	11819	217	8	5	623	5	PEX3	6	143793311	Missense_Mutation	SNP	A	TCGA-DQ-7592-01A-11D-2078-08	12571127	143793311	27321756	34	75200											
ESR1	2099	broad.mit.edu	37	chr6	152129337	152129338	+	Frame_Shift_Ins	INS	-	-	C																															tccaacggcctggggggtttINSccccccactcaacagcgtgt																										TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:152129337_152129338insC	ENST00000440973.1	+	3	660_661	c.290_291insC	c.(289-291)tccfs	p.S97fs	ESR1_ENST00000206249.3_Frame_Shift_Ins_p.S97fs|ESR1_ENST00000443427.1_Frame_Shift_Ins_p.S97fs|ESR1_ENST00000338799.5_Frame_Shift_Ins_p.S97fs|ESR1_ENST00000456483.2_Frame_Shift_Ins_p.S97fs|ESR1_ENST00000406599.1_Frame_Shift_Ins_p.S97fs	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	97	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTGGGGGGTTTCCCCCCACTCA	0.723													2	4	---	---	---	---					C	152129338	-	C	152129337	7	5	392	1	0	1	1	0	0	0	0	0	5294	1783	62	0	292	0	ESR1	6	152129337	Frame_Shift_Ins	INS	-	TCGA-DQ-7592-01A-11D-2078-08	8336026	152129337	18985730	35	75201											
RADIL	55698	broad.mit.edu	37	chr7	4874238	4874238	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccaccccagcacactgacCcagacagtctcgcggatcag	10	4	9	18	2	2	2	1	1	1	1	3	3	2	3	4	1	1	1	4	1	0	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:4874238C>T	ENST00000399583.3	-	4	1603	c.1416_splice	c.e4+1	p.W472_splice	RADIL_ENST00000536091.1_Splice_Site_p.W472_splice|RADIL_ENST00000538469.1_Splice_Site_p.W232_splice	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	472					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCACACTGACCCAGACAGTCT	0.682													3	10					0	0	0	0	T	4874238	C	T	4874238	5	4	392	1	0	0	0	0	0	0	1	0	13079	637	22	4	1859	4	RADIL	7	4874238	Splice_Site	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		4874238	154264425	36	75202											
DNAH11	8701	broad.mit.edu	37	chr7	21934574	21934574	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacacggtaccagacactTggagcaaactggcttatcct	12	9	9	11	1	0	2	0	1	0	1	1	3	1	3	2	3	3	3	2	3	3	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:21934574T>G	ENST00000328843.6	+	80	13058	c.13027T>G	c.(13027-13029)Tgg>Ggg	p.W4343G	DNAH11_ENST00000409508.3_Missense_Mutation_p.W4336G			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4343					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCAGACACTTGGAGCAAACT	0.522									Kartagener syndrome				6	41					0	0	0	0	G	21934574	T	G	21934574	3	3	392	1	0	0	0	0	1	0	0	0	4636	1812	63	5	13342	5	DNAH11	7	21934574	Missense_Mutation	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	17060336	21934574	137204089	37	75203											
GPNMB	10457	broad.mit.edu	37	chr7	23306162	23306162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgacaaccccctggagCtgagtaggattcctgatgaa	10	9	12	10	0	0	4	0	4	0	0	1	6	1	6	3	3	2	2	3	3	3	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:23306162C>T	ENST00000258733.4	+	7	1340	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	GPNMB_ENST00000381990.2_Silent_p.L361L|GPNMB_ENST00000453162.2_Silent_p.L303L|GPNMB_ENST00000539136.1_Silent_p.L250L			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	361					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CCCCCTGGAGCTGAGTAGGAT	0.413													9	43					0	0	0	0	T	23306162	C	T	23306162	2	4	392	1	0	0	0	0	0	0	0	1	6669	796	28	4		4	GPNMB	7	23306162	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	1371588	23306162	135832501	38	75204											
FKBP6	8468	broad.mit.edu	37	chr7	72754700	72754700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcacctggtggaggccGccaagcttcctgttctcctg	6	9	12	14	1	1	0	0	0	1	0	3	1	2	1	5	3	3	4	5	3	1	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:72754700G>A	ENST00000252037.4	+	6	718	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	FKBP6_ENST00000413573.2_Missense_Mutation_p.A187T|FKBP6_ENST00000431982.2_Missense_Mutation_p.A212T	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	217					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTGGAGGCCGCCAAGCTTCC	0.567													13	42					0	0	0	0	A	72754700	G	A	72754700	3	1	392	1	0	0	0	0	1	0	0	0	5957	1087	38	1	717	1	FKBP6	7	72754700	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	49448538	72754700	86383963	39	75205											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885018	88885018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcctgaagaattaaccGtaggagaaacaataaaggtc	17	8	9	7	1	0	3	0	1	0	2	2	4	1	3	2	2	3	2	2	2	8	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr8:88885018G>A	ENST00000319675.3	-	1	1278	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	394										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGAATTAACCGTAGGAGAAAC	0.502													19	22					0	0	0	0	A	88885018	G	A	88885018	2	1	392	1	0	0	0	0	0	0	0	1	4305	1140	40	1		1	DCAF4L2	8	88885018	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08		88885018	57479004	40	75206											
LRRC19	64922	broad.mit.edu	37	chr9	26997861	26997861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatagctaatcaaattgcCttgcagattcagaagtttta	15	13	6	7	0	2	2	2	0	0	2	2	2	2	2	1	0	3	3	1	0	6	7			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:26997861C>A	ENST00000380055.5	-	3	570	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C	IFT74_ENST00000380062.5_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	154						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		ATCAAATTGCCTTGCAGATTC	0.323													16	36					4.14922e-12	4.82664e-12	1	0	A	26997861	C	A	26997861	3	1	392	1	0	0	0	0	1	0	0	0	9039	681	24	4	664	4	LRRC19	9	26997861	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		26997861	114215570	41	75207											
TRPM3	80036	broad.mit.edu	37	chr9	73152300	73152300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctcgttgacttcctccagCcgcatagacatgttctccac	7	12	6	16	2	2	2	0	1	2	1	6	2	4	2	4	0	1	3	4	0	1	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:73152300C>T	ENST00000377110.2	-	25	3936	c.3693G>A	c.(3691-3693)cgG>cgA	p.R1231R	TRPM3_ENST00000377111.2_Silent_p.R1231R|TRPM3_ENST00000358082.3_Silent_p.R1093R|TRPM3_ENST00000408909.2_Silent_p.R1090R|TRPM3_ENST00000360823.2_Silent_p.R1093R|TRPM3_ENST00000396285.1_Silent_p.R1090R|TRPM3_ENST00000396280.5_Silent_p.R1080R|TRPM3_ENST00000396292.4_Silent_p.R1103R|TRPM3_ENST00000377106.1_Silent_p.R1103R|TRPM3_ENST00000357533.2_Silent_p.R1235R|TRPM3_ENST00000423814.3_Silent_p.R1258R|TRPM3_ENST00000377105.1_Silent_p.R1090R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1256						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTCCTCCAGCCGCATAGACA	0.572													4	32					0	0	0	0	T	73152300	C	T	73152300	2	4	392	1	0	0	0	0	0	0	0	1	16682	726	26	4		4	TRPM3	9	73152300	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	46154439	73152300	68061131	42	75208											
PALM2	114299	broad.mit.edu	37	chr9	112705030	112705030	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagaccaagattctctcTacatctaccattggcccaga	12	9	8	12	0	3	3	0	0	3	3	4	5	3	4	3	2	2	0	3	2	3	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:112705030T>C	ENST00000448454.2	+	8	567	c.567T>C	c.(565-567)tcT>tcC	p.S189S	PALM2_ENST00000314527.4_Silent_p.S187S|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Silent_p.S155S|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Silent_p.S153S					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGATTCTCTCTACATCTACCA	0.453													6	21					0	0	0	0	C	112705030	T	C	112705030	2	2	392	1	0	0	0	0	0	0	0	1	11480	1509	53	5		5	PALM2	9	112705030	Silent	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	39552730	112705030	28508401	43	75209											
ASTN2	23245	broad.mit.edu	37	chr9	119976807	119976807	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtctcccggatgggcAcgccaatgacggaattgtgg	8	8	16	9	3	1	1	0	1	1	0	2	4	1	4	2	5	0	1	2	5	2	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:119976807A>T	ENST00000313400.4	-	3	945	c.845T>A	c.(844-846)gTg>gAg	p.V282E	ASTN2_ENST00000373996.3_Missense_Mutation_p.V282E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.V282E			O75129	ASTN2_HUMAN	astrotactin 2	282						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGGATGGGCACGCCAATGAC	0.602													7	36					0	0	0	0	T	119976807	A	T	119976807	3	4	392	1	0	0	0	0	1	0	0	0	1069	159	6	5	3333	5	ASTN2	9	119976807	Missense_Mutation	SNP	A	TCGA-DQ-7592-01A-11D-2078-08	7271777	119976807	21236624	44	75210											
DOLPP1	57171	broad.mit.edu	37	chr9	131843487	131843487	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacgtcgaatatcctgcagGtaaaaggcggtcccggctcc	9	7	11	14	4	0	0	0	0	0	0	4	1	3	0	4	4	1	3	4	4	4	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:131843487G>C	ENST00000372546.4	+	1	108		c.e1+1		DOLPP1_ENST00000540102.1_Splice_Site|DOLPP1_ENST00000406974.3_Splice_Site	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1						dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TATCCTGCAGGTAAAAGGCGG	0.706													8	44					0	0	0	0	C	131843487	G	C	131843487	5	2	392	1	0	0	0	0	0	0	1	0	4740	1275	44	4	79	4	DOLPP1	9	131843487	Splice_Site	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	11866680	131843487	9369944	45	75211											
TTF1	7270	broad.mit.edu	37	chr9	135271848	135271850	+	In_Frame_Del	DEL	TCT	TCT	-																															gtaattgttgacatcgaacaTcttctttgctcgatagtata																										TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:135271848_135271850delTCT	ENST00000334270.2	-	5	1865_1867	c.1826_1828delAGA	c.(1825-1830)atg>a	p.KM609del		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	609					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACATCGAACATCTTCTTTGCTCG	0.389													10	43	---	---	---	---					-	135271850	TCT	-	135271848	7	5	392	1	0	1	0	1	0	0	0	0	16814	1435	50	0	917	0	TTF1	9	135271848	In_Frame_Del	DEL	TCT	TCGA-DQ-7592-01A-11D-2078-08	3428361	135271848	5941583	46	75212											
NDST2	8509	broad.mit.edu	37	chr10	75567374	75567374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggaagccgggcccgaCgaagaactggtcctggcact	9	5	15	12	3	0	1	0	0	0	1	1	4	1	2	3	4	2	1	3	4	3	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:75567374C>T	ENST00000299641.4	-	4	1374	c.404G>A	c.(403-405)cGt>cAt	p.R135H	NDST2_ENST00000309979.6_Missense_Mutation_p.R258H	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	258	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			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)					CCGGGCCCGACGAAGAACTGG	0.562													11	27					0	0	0	0	T	75567374	C	T	75567374	3	4	392	1	0	0	0	0	1	0	0	0	10326	536	19	1	1930	1	NDST2	10	75567374	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		75567374	59967373	47	75213											
TDRD1	56165	broad.mit.edu	37	chr10	115973760	115973760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgggtgtggaaggaaaagTaaatccattggagtggacat	13	10	14	4	0	0	0	0	0	0	0	1	4	1	4	1	5	0	1	1	5	5	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:115973760T>C	ENST00000251864.2	+	16	2252	c.2099T>C	c.(2098-2100)gTa>gCa	p.V700A	TDRD1_ENST00000422662.1_Missense_Mutation_p.V304A|TDRD1_ENST00000369280.1_Missense_Mutation_p.V700A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V643A|TDRD1_ENST00000369282.1_Missense_Mutation_p.V700A	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	700					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGGAAAAGTAAATCCATTG	0.443													12	39					0	0	0	0	C	115973760	T	C	115973760	3	2	392	1	0	0	0	0	1	0	0	0	15824	1638	57	5	2157	5	TDRD1	10	115973760	Missense_Mutation	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	40406386	115973760	19560987	48	75214											
OR52E4	390081	broad.mit.edu	37	chr11	5905534	5905534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgggagaatgccttctatCaatgacacccacttctatcc	10	11	7	13	0	3	2	1	1	2	1	4	3	4	2	3	1	1	1	3	1	4	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:5905534C>G	ENST00000316987.2	+	1	34	c.12C>G	c.(10-12)atC>atG	p.I4M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTTCTATCAATGACACCC	0.428													19	77					0	0	0	0	G	5905534	C	G	5905534	3	3	392	1	0	0	0	0	1	0	0	0	11187	816	29	2	14	2	OR52E4	11	5905534	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		5905534	129100982	49	75215											
OR52L1	338751	broad.mit.edu	37	chr11	6008146	6008146	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagaggaaagagaaaaaAgaaaccaaagtcatgatttc	20	7	10	4	0	1	4	1	1	0	3	2	7	1	5	1	2	1	0	1	2	6	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:6008146A>G	ENST00000332249.4	-	1	69	c.15T>C	c.(13-15)tcT>tcC	p.S5S		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGAAAAAAGAAACCAAAG	0.423													4	30					0	0	0	0	G	6008146	A	G	6008146	2	3	392	1	0	0	0	0	0	0	0	1	11196	59	3	5		5	OR52L1	11	6008146	Silent	SNP	A	TCGA-DQ-7592-01A-11D-2078-08	102612	6008146	128998370	50	75216											
PPFIBP2	8495	broad.mit.edu	37	chr11	7670885	7670885	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccggcggccagctgatgaGgtgagaccacaaatagtatc	12	6	12	11	2	0	3	0	3	0	1	1	4	0	3	3	3	1	2	3	3	3	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:7670885G>A	ENST00000299492.4	+	21	2509	c.2121_splice	c.e21+1	p.E707_splice	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Splice_Site_p.E564_splice|PPFIBP2_ENST00000528883.1_Splice_Site_p.E595_splice|PPFIBP2_ENST00000533792.1_Splice_Site_p.E549_splice	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	707					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	p.E707D(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGCTGATGAGGTGAGACCAC	0.498													20	180					0	0	0	0	A	7670885	G	A	7670885	5	1	392	1	0	0	0	0	0	0	1	0	12385	1014	35	4	2199	4	PPFIBP2	11	7670885	Splice_Site	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	1662739	7670885	127335631	51	75217											
SPTBN2	6712	broad.mit.edu	37	chr11	66472445	66472445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggctggacaccaggcGcagtgcgtcaaccaaccagg	9	4	14	14	3	1	0	1	0	0	0	2	1	1	1	3	5	3	2	3	5	2	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:66472445G>A	ENST00000533211.1	-	15	2633	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R768C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R768C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	768					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACACCAGGCGCAGTGCGTCA	0.682													11	52					0	0	0	0	A	66472445	G	A	66472445	3	1	392	1	0	0	0	0	1	0	0	0	15210	1087	38	1	4966	1	SPTBN2	11	66472445	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	58801560	66472445	68534071	52	75218											
TPCN2	219931	broad.mit.edu	37	chr11	68846464	68846464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccagcaacgtgtttgaCgggctcctcaccgttgtcct	6	11	9	15	3	1	1	1	1	0	0	3	1	3	1	5	1	3	4	5	1	2	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:68846464C>T	ENST00000294309.3	+	16	1616	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	TPCN2_ENST00000542467.1_Silent_p.D505D|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	505					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTGTTTGACGGGCTCCTCA	0.612													5	74					0	0	0	0	T	68846464	C	T	68846464	2	4	392	1	0	0	0	0	0	0	0	1	16491	535	19	1		1	TPCN2	11	68846464	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	2374019	68846464	66160052	53	75219											
CACNA1C	775	broad.mit.edu	37	chr12	2717687	2717687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcaggctgctgtacCgctccatcgactcccacacg	6	8	8	19	3	0	0	0	0	0	0	4	1	3	0	5	1	3	5	5	1	1	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:2717687C>T	ENST00000399655.1	+	27	3632	c.3367C>T	c.(3367-3369)Cgc>Tgc	p.R1123C	CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1148C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1143C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1143C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1123C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1143	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.R1123G(1)|p.R658G(1)|p.R1173G(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCTGCTGTACCGCTCCATCGA	0.577													4	16					0	0	0	0	T	2717687	C	T	2717687	3	4	392	1	0	0	0	0	1	0	0	0	2565	652	23	1	3645	1	CACNA1C	12	2717687	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		2717687	131134208	54	75220											
ACRBP	84519	broad.mit.edu	37	chr12	6753666	6753666	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgctcctgcttgtgcTctggcgcttgctcctggcct	0	15	10	16	1	1	0	0	0	1	0	4	0	4	0	4	2	4	5	4	2	0	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:6753666T>A	ENST00000229243.2	-	5	674	c.581A>T	c.(580-582)gAg>gTg	p.E194V	ACRBP_ENST00000414226.2_Missense_Mutation_p.E161V|ACRBP_ENST00000536350.1_Missense_Mutation_p.E194V	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	194						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGCTTGTGCTCTGGCGCTTG	0.582													9	99					0	0	0	0	A	6753666	T	A	6753666	3	1	392	1	0	0	0	0	1	0	0	0	170	1551	54	5	1074	5	ACRBP	12	6753666	Missense_Mutation	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	4035979	6753666	127098229	55	75221											
PZP	5858	broad.mit.edu	37	chr12	9334673	9334673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgtgcaatgggggcaacGtctgactccacagggaagga	11	7	14	9	2	1	1	0	1	1	0	3	3	2	3	1	4	2	2	1	4	3	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:9334673G>A	ENST00000261336.2	-	14	1615	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	PZP_ENST00000381997.2_Silent_p.D398D	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGGGGCAACGTCTGACTCCA	0.413													11	37					0	0	0	0	A	9334673	G	A	9334673	2	1	392	1	0	0	0	0	0	0	0	1	12951	1136	40	1		1	PZP	12	9334673	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	2581007	9334673	124517222	56	75222											
PTPRO	5800	broad.mit.edu	37	chr12	15636952	15636952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccaagatgataataacatCgttgtctcattagaagcttc	13	13	7	8	1	1	3	1	1	1	2	5	3	2	3	1	0	2	2	1	0	5	5			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:15636952C>T	ENST00000281171.4	+	2	450	c.120C>T	c.(118-120)atC>atT	p.I40I	PTPRO_ENST00000543886.1_Silent_p.I40I|PTPRO_ENST00000348962.2_Silent_p.I40I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	40						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I40I(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)				ATAATAACATCGTTGTCTCAT	0.348													22	73					0	0	0	0	T	15636952	C	T	15636952	2	4	392	1	0	0	0	0	0	0	0	1	12891	874	31	1		1	PTPRO	12	15636952	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	6302279	15636952	118214943	57	75223											
SLC16A7	9194	broad.mit.edu	37	chr12	60169147	60169147	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggagtgttagcagtgtTctctttgaaactctcatgga	8	16	11	6	0	2	1	1	1	2	0	4	3	2	3	0	2	2	3	0	2	2	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:60169147T>G	ENST00000261187.4	+	4	1235	c.1071T>G	c.(1069-1071)gtT>gtG	p.V357V	SLC16A7_ENST00000543448.1_Silent_p.V258V|SLC16A7_ENST00000552024.1_Silent_p.V357V|SLC16A7_ENST00000547379.1_Silent_p.V357V|SLC16A7_ENST00000552432.1_Silent_p.V357V	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	357						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTAGCAGTGTTCTCTTTGAAA	0.498													18	70					0	0	0	0	G	60169147	T	G	60169147	2	3	392	1	0	0	0	0	0	0	0	1	14501	1770	62	5		5	SLC16A7	12	60169147	Silent	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	44532195	60169147	73682748	58	75224											
DNAH10	196385	broad.mit.edu	37	chr12	124335520	124335520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaggccgcacggagctgcCcgagtcggtgaaggcgctgt	6	5	17	13	6	0	1	0	1	0	0	1	3	0	2	2	4	2	4	2	4	1	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:124335520C>T	ENST00000409039.3	+	34	5859	c.5834C>T	c.(5833-5835)cCc>cTc	p.P1945L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1945	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGGAGCTGCCCGAGTCGGTG	0.612													24	35					0	0	0	0	T	124335520	C	T	124335520	3	4	392	1	0	0	0	0	1	0	0	0	4635	623	22	4	5968	4	DNAH10	12	124335520	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	64166373	124335520	9516375	59	75225											
FLT3	2322	broad.mit.edu	37	chr13	28589748	28589748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgagaagatttcccacaGtaatattccatatgaccaga	16	10	7	8	0	0	4	0	2	0	3	2	5	2	4	3	0	0	1	3	0	5	5			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:28589748G>A	ENST00000380982.4	-	21	2722	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	FLT3_ENST00000241453.7_Silent_p.L878L|FLT3_ENST00000537084.1_Silent_p.L837L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	878	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	ATTTCCCACAGTAATATTCCA	0.542			"Mis, O"		"AML, ALL"								21	29					0	0	0	0	A	28589748	G	A	28589748	2	1	392	1	0	0	0	0	0	0	0	1	5987	1020	36	4		4	FLT3	13	28589748	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08		28589748	86580130	60	75226											
SPERT	220082	broad.mit.edu	37	chr13	46287473	46287473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttagaccccatggagCgccccatgtcccaggccgac	7	7	10	17	2	0	1	0	0	0	1	1	3	1	2	7	2	2	0	7	2	1	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:46287473C>T	ENST00000378966.3	+	2	621	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	SPERT_ENST00000310521.1_Missense_Mutation_p.R105C			Q8NA61	SPERT_HUMAN	spermatid associated	105						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCCATGGAGCGCCCCATGTC	0.667													26	48					0	0	0	0	T	46287473	C	T	46287473	3	4	392	1	0	0	0	0	1	0	0	0	15129	768	27	1	323	1	SPERT	13	46287473	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	17697725	46287473	68882405	61	75227											
PCDH8	5100	broad.mit.edu	37	chr13	53421570	53421570	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccttgcaggtggcagcGcggggcccgggtccgcggtc	4	6	18	13	5	0	1	0	1	0	0	2	1	1	1	3	6	2	2	3	6	0	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:53421570G>A	ENST00000377942.3	-	1	1205	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	PCDH8_ENST00000338862.4_Silent_p.R334R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	334	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGTGGCAGCGCGGGGCCCGG	0.721													8	9					0	0	0	0	A	53421570	G	A	53421570	2	1	392	1	0	0	0	0	0	0	0	1	11588	1074	38	1		1	PCDH8	13	53421570	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	7134097	53421570	61748308	62	75228											
FNTB	2342	broad.mit.edu	37	chr14	65453708	65453708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttcacctactattgccctCcatcttcctcccccgtctgg	4	14	4	19	1	3	0	1	0	2	0	6	0	6	0	6	1	2	0	6	1	2	5			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr14:65453708C>T	ENST00000246166.2	+	1	271	c.37C>T	c.(37-39)Cca>Tca	p.P13S	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTATTGCCCTCCATCTTCCTC	0.562											OREG0022738	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	34					0	0	0	0	T	65453708	C	T	65453708	3	4	392	1	0	0	0	0	1	0	0	0	6023	855	30	2	39	2	FNTB	14	65453708	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		65453708	41895832	63	75229											
NDN	4692	broad.mit.edu	37	chr15	23931748	23931748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttccagacggcgctctctCtggcgccgcggcccttcacg	3	8	12	18	7	3	1	1	0	2	1	5	1	4	1	3	3	0	2	3	3	0	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:23931748C>G	ENST00000331837.4	-	1	702	c.617G>C	c.(616-618)aGa>aCa	p.R206T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	206	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCGCTCTCTCTGGCGCCGCG	0.652									Prader-Willi syndrome				4	39					0	0	0	0	G	23931748	C	G	23931748	3	3	392	1	0	0	0	0	1	0	0	0	10317	913	32	2	352	2	NDN	15	23931748	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		23931748	78599644	64	75230											
OTUD7A	161725	broad.mit.edu	37	chr15	31776457	31776457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccaggcgtcgccccgCggcccaccgcccttctccgc	3	7	9	22	6	1	0	0	0	1	0	4	0	2	0	7	2	1	0	7	2	1	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:31776457C>T	ENST00000382902.1	-	11	1934	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	OTUD7A_ENST00000307050.4_Silent_p.P607P			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	607						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGTCGCCCCGCGGCCCACCGC	0.697													4	13					0	0	0	0	T	31776457	C	T	31776457	2	4	392	1	0	0	0	0	0	0	0	1	11389	755	27	1		1	OTUD7A	15	31776457	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	7844709	31776457	70754935	65	75231											
SPG11	80208	broad.mit.edu	37	chr15	44944131	44944131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgatgatagctgggctttCcaagacctggaaacaaggta	14	9	11	7	0	0	3	0	2	0	1	1	4	1	4	2	3	2	3	2	3	6	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:44944131C>A	ENST00000261866.7	-	6	1030	c.1014G>T	c.(1012-1014)tgG>tgT	p.W338C	SPG11_ENST00000535302.2_Missense_Mutation_p.W338C|SPG11_ENST00000559193.1_Missense_Mutation_p.W338C|SPG11_ENST00000427534.2_Missense_Mutation_p.W338C|SPG11_ENST00000558319.1_Missense_Mutation_p.W338C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	338					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCTGGGCTTTCCAAGACCTGG	0.373													4	24					0.00024832	0.000264565	1	0	A	44944131	C	A	44944131	3	1	392	1	0	0	0	0	1	0	0	0	15131	856	30	2	6457	2	SPG11	15	44944131	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	13167674	44944131	57587261	66	75232											
CREBBP	1387	broad.mit.edu	37	chr16	3801777	3801777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacattctcgccctggatCtctgtgaaacacttctcaca	9	12	6	14	1	4	1	2	1	3	0	7	2	4	2	1	1	1	0	1	1	1	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:3801777C>G	ENST00000262367.5	-	20	4538	c.3729G>C	c.(3727-3729)gaG>gaC	p.E1243D	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1205D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1243	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCCCTGGATCTCTGTGAAAC	0.522			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						7	24					0	0	0	0	G	3801777	C	G	3801777	3	3	392	1	0	0	0	0	1	0	0	0	3891	912	32	2	3647	2	CREBBP	16	3801777	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		3801777	86552976	67	75233											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53730126	53730126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgttctcatcatgcaaaCgcaaaaatctgtcttccagt	14	12	5	10	1	4	0	2	0	3	0	6	0	5	0	1	0	2	3	1	0	4	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:53730126C>T	ENST00000262135.4	-	3	260	c.167G>A	c.(166-168)cGt>cAt	p.R56H	RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R56H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	56					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCATGCAAACGCAAAAATCT	0.398													61	78					0	0	0	0	T	53730126	C	T	53730126	3	4	392	1	0	0	0	0	1	0	0	0	13635	536	19	1	3880	1	RPGRIP1L	16	53730126	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	49928349	53730126	36624627	68	75234											
GNAO1	2775	broad.mit.edu	37	chr16	56309938	56309938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctggcagccatcgtccGggccatggacactttgggca	6	8	13	14	2	0	0	0	0	0	0	3	1	2	1	4	4	1	2	4	4	0	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:56309938G>A	ENST00000262494.7	+	3	517	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	GNAO1_ENST00000262493.6_Missense_Mutation_p.R86Q	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	86					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GCCATCGTCCGGGCCATGGAC	0.517													15	35					0	0	0	0	A	56309938	G	A	56309938	3	1	392	1	0	0	0	0	1	0	0	0	6559	1116	39	1	267	1	GNAO1	16	56309938	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	2579812	56309938	34044815	69	75235											
CNGB1	1258	broad.mit.edu	37	chr16	57953017	57953017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcactggtcagcgggtcaAtgctctggggaaactggtac	9	9	13	10	1	4	0	3	0	1	0	4	1	4	1	0	5	4	2	0	5	3	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:57953017A>G	ENST00000564448.1	-	20	1985	c.1925T>C	c.(1924-1926)aTt>aCt	p.I642T	CNGB1_ENST00000251102.8_Missense_Mutation_p.I648T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	648					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGCGGGTCAATGCTCTGGGG	0.577													17	34					0	0	0	0	G	57953017	A	G	57953017	3	3	392	1	0	0	0	0	1	0	0	0	3630	101	4	5	1868	5	CNGB1	16	57953017	Missense_Mutation	SNP	A	TCGA-DQ-7592-01A-11D-2078-08	1643079	57953017	32401736	70	75236											
CES2	8824	broad.mit.edu	37	chr16	66969411	66969411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagccagcgcaccccgcTgactccctgcccagtccaaa	9	4	7	21	2	0	1	0	1	0	0	2	1	2	1	7	0	3	2	7	0	2	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:66969411T>C	ENST00000317091.4	+	1	1049	c.65T>C	c.(64-66)cTg>cCg	p.L22P	CES2_ENST00000417689.1_Missense_Mutation_p.L22P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CGCACCCCGCTGACTCCCTGC	0.667													61	71					0	0	0	0	C	66969411	T	C	66969411	3	2	392	1	0	0	0	0	1	0	0	0	3299	1580	55	5	67	5	CES2	16	66969411	Missense_Mutation	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	9016394	66969411	23385342	71	75237											
FHOD1	29109	broad.mit.edu	37	chr16	67267888	67267888	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaggggcagtgggggtGagggagctgggatgtctttc	7	8	21	5	0	1	2	0	1	1	1	2	4	1	4	0	6	2	3	0	6	0	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:67267888G>T	ENST00000258201.4	-	13	1965	c.1718C>A	c.(1717-1719)tCa>tAa	p.S573*	FHOD1_ENST00000567687.1_Nonsense_Mutation_p.S152*	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	573	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGTGGGGGTGAGGGAGCTGG	0.602													7	53					0.000157383	0.000169261	1	0	T	67267888	G	T	67267888	4	4	392	1	0	0	0	0	0	1	0	0	5927	1294	45	2	1816	2	FHOD1	16	67267888	Nonsense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	298477	67267888	23086865	72	75238											
CD68	968	broad.mit.edu	37	chr17	7483866	7483866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatccccacctgcttctctCattcccctatggacacctca	7	11	3	20	0	3	0	2	0	1	0	6	1	5	1	7	1	1	1	7	1	1	3			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:7483866C>T	ENST00000250092.6	+	3	861	c.650C>T	c.(649-651)tCa>tTa	p.S217L	CD68_ENST00000380498.6_Missense_Mutation_p.S190L	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	217						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CTGCTTCTCTCATTCCCCTAT	0.577													9	80					0	0	0	0	T	7483866	C	T	7483866	3	4	392	1	0	0	0	0	1	0	0	0	3059	838	29	2	660	2	CD68	17	7483866	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		7483866	73711344	73	75239											
TP53	7157	broad.mit.edu	37	chr17	7577575	7577575	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggaactgttacacatgtAgttgtagtggatggtggtac	10	12	14	5	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:7577575A>C	ENST00000420246.2	-	7	838	c.706T>G	c.(706-708)Tac>Gac	p.Y236D	TP53_ENST00000413465.2_Missense_Mutation_p.Y236D|TP53_ENST00000269305.4_Missense_Mutation_p.Y236D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236D|TP53_ENST00000445888.2_Missense_Mutation_p.Y236D|TP53_ENST00000359597.4_Missense_Mutation_p.Y236D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236N(12)|p.Y236D(9)|p.Y236H(9)|p.0?(8)|p.?(5)|p.Y236del(4)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236fs*5(1)|p.Y234fs*2(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y143D(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		TTACACATGTAGTTGTAGTGG	0.577		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)			23	15					0	0	0	0	C	7577575	A	C	7577575	3	2	392	1	0	0	0	0	1	0	0	0	16476	420	15	5	584	5	TP53	17	7577575	Missense_Mutation	SNP	A	TCGA-DQ-7592-01A-11D-2078-08	93709	7577575	73617635	74	75240											
ROCK1	6093	broad.mit.edu	37	chr18	18629142	18629142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttatcatttcaaattTgctgagaagcttcatagcat	11	17	5	8	0	4	1	3	1	1	1	5	2	4	1	0	0	3	3	0	0	4	6			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr18:18629142T>C	ENST00000399799.1	-	4	1265	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	109	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTTCAAATTTGCTGAGAAGC	0.363													12	75					0	0	0	0	C	18629142	T	C	18629142	3	2	392	1	0	0	0	0	1	0	0	0	13602	1821	63	5	3859	5	ROCK1	18	18629142	Missense_Mutation	SNP	T	TCGA-DQ-7592-01A-11D-2078-08		18629142	59448106	75	75241											
UBXN6	80700	broad.mit.edu	37	chr19	4446549	4446549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggttgaagaagtcccCaggcagttcgaactgcgagg	10	8	15	8	2	0	3	0	2	0	1	2	5	1	3	2	3	2	3	2	3	3	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:4446549C>A	ENST00000301281.6	-	8	992	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	UBXN6_ENST00000394765.3_Missense_Mutation_p.G237W	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	290						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						AAGAAGTCCCCAGGCAGTTCG	0.682													6	25					2.0095e-06	2.2241e-06	1	0	A	4446549	C	A	4446549	3	1	392	1	0	0	0	0	1	0	0	0	17013	594	21	4	473	4	UBXN6	19	4446549	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		4446549	54682434	76	75242											
LONP1	9361	broad.mit.edu	37	chr19	5700888	5700888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccaggttctcgttgctgTacttgccccaagggatggac	6	11	13	11	1	1	0	0	0	1	0	3	2	2	2	3	4	3	4	3	4	2	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:5700888T>C	ENST00000360614.3	-	9	1575	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	LONP1_ENST00000593119.1_Missense_Mutation_p.Y409C|LONP1_ENST00000590729.1_Missense_Mutation_p.Y343C|LONP1_ENST00000540670.2_Missense_Mutation_p.Y277C|LONP1_ENST00000585374.1_Missense_Mutation_p.Y359C	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	473					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGTTGCTGTACTTGCCCCA	0.607													24	73					0	0	0	0	C	5700888	T	C	5700888	3	2	392	1	0	0	0	0	1	0	0	0	8956	1638	57	5	1501	5	LONP1	19	5700888	Missense_Mutation	SNP	T	TCGA-DQ-7592-01A-11D-2078-08	1254339	5700888	53428095	77	75243											
EXOC3L2	90332	broad.mit.edu	37	chr19	45719340	45719340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtctcacctgatgtctGggtagtcgcgcaccaacact	7	10	12	12	2	2	1	1	1	2	0	4	1	2	1	2	2	1	2	2	2	2	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:45719340G>T	ENST00000413988.1	-	9	972	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.P311Q	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	311										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CCTGATGTCTGGGTAGTCGCG	0.657													15	35					6.31663e-08	7.20095e-08	1	0	T	45719340	G	T	45719340	3	4	392	1	0	0	0	0	1	0	0	0	5342	1348	47	4	305	4	EXOC3L2	19	45719340	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	40018452	45719340	13409643	78	75244											
CCDC8	83987	broad.mit.edu	37	chr19	46915759	46915759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcgctgaactcgctgtcGctggcgttgctgctgtcgta	5	12	13	11	5	0	1	0	1	0	0	4	1	0	1	0	1	3	7	0	1	3	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:46915759G>A	ENST00000307522.3	-	1	1082	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	103						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ACTCGCTGTCGCTGGCGTTGC	0.652													17	122					0	0	0	0	A	46915759	G	A	46915759	2	1	392	1	0	0	0	0	0	0	0	1	2880	1078	38	1		1	CCDC8	19	46915759	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	1196419	46915759	12213224	79	75245											
PNMAL2	57469	broad.mit.edu	37	chr19	46998417	46998417	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcgtctcatctgcctcagGaccctcgtgtcctgcgcacg	5	9	11	16	4	3	0	2	0	2	0	6	1	4	1	3	2	2	1	3	2	0	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:46998417G>A	ENST00000599531.1	-	1	1338	c.306C>T	c.(304-306)gtC>gtT	p.V102V	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Silent_p.V102V|AC011484.1_ENST00000377652.3_Silent_p.R176R	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	102										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTGCCTCAGGACCCTCGTGT	0.677													27	169					0	0	0	0	A	46998417	G	A	46998417	2	1	392	1	0	0	0	0	0	0	0	1	12230	1161	41	2		2	PNMAL2	19	46998417	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	82658	46998417	12130566	80	75246											
ZNF134	7693	broad.mit.edu	37	chr19	58131571	58131571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagtcatcttctgaacaGagcatttctatagcagtgtc	12	12	9	8	0	4	3	1	1	3	2	5	4	4	3	0	0	3	2	0	0	4	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:58131571G>A	ENST00000396161.5	+	3	394	c.84G>A	c.(82-84)caG>caA	p.Q28Q	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	28						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTCTGAACAGAGCATTTCTA	0.453													34	49					0	0	0	0	A	58131571	G	A	58131571	2	1	392	1	0	0	0	0	0	0	0	1	17819	933	33	2		2	ZNF134	19	58131571	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	11133154	58131571	997412	81	75247											
RBCK1	10616	broad.mit.edu	37	chr20	398533	398533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaacacctccctcaaccCtcaggagctgcagcgggagc	9	4	10	18	2	2	0	2	0	0	0	3	2	3	2	4	2	6	3	4	2	2	0			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:398533C>G	ENST00000356286.5	+	4	1124	c.419C>G	c.(418-420)cCt>cGt	p.P140R	RBCK1_ENST00000353660.3_Missense_Mutation_p.P98R|RBCK1_ENST00000382181.2_Missense_Mutation_p.L24V	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	140	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCCCTCAACCCTCAGGAGCTG	0.672													8	24					0	0	0	0	G	398533	C	G	398533	3	3	392	1	0	0	0	0	1	0	0	0	13189	681	24	4	452	4	RBCK1	20	398533	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		398533	62626987	82	75248											
BPI	671	broad.mit.edu	37	chr20	36932638	36932638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagaacatggccaggggcCcttgcaacgcgccgagatgg	10	4	16	11	3	0	2	0	0	0	2	0	5	0	2	3	4	3	1	3	4	2	1			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:36932638C>A	ENST00000262865.4	+	1	114	c.25C>A	c.(25-27)Cct>Act	p.P9T	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	9					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGCCAGGGGCCCTTGCAACGC	0.607													33	73					1.22384e-17	1.43832e-17	1	0	A	36932638	C	A	36932638	3	1	392	1	0	0	0	0	1	0	0	0	1498	623	22	4	27	4	BPI	20	36932638	Missense_Mutation	SNP	C	TCGA-DQ-7592-01A-11D-2078-08	36534105	36932638	26092882	83	75249											
ZNF831	128611	broad.mit.edu	37	chr20	57769698	57769698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcatctgtgtacttggcGgtgcactttcctggtagcag	5	12	14	10	2	1	0	0	0	1	0	2	0	2	0	1	4	3	5	1	4	2	4			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:57769698G>A	ENST00000371030.2	+	1	3624	c.3624G>A	c.(3622-3624)gcG>gcA	p.A1208A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1208						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTACTTGGCGGTGCACTTTC	0.642													10	18					0	0	0	0	A	57769698	G	A	57769698	2	1	392	1	0	0	0	0	0	0	0	1	18278	1103	39	1		1	ZNF831	20	57769698	Silent	SNP	G	TCGA-DQ-7592-01A-11D-2078-08	20837060	57769698	5255822	84	75250											
TCF20	6942	broad.mit.edu	37	chr22	42605941	42605941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacagtcttccgagcGgtggcgccgcttaaacctgg	7	8	11	15	4	1	0	0	0	1	0	3	1	3	0	5	3	2	1	5	3	2	2			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr22:42605941G>A	ENST00000359486.3	-	1	5507	c.5371C>T	c.(5371-5373)Cgc>Tgc	p.R1791C	TCF20_ENST00000335626.4_Missense_Mutation_p.R1791C|TCF20_ENST00000404876.1_Missense_Mutation_p.R92C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTTCCGAGCGGTGGCGCCGC	0.597													16	46					0	0	0	0	A	42605941	G	A	42605941	3	1	392	1	0	0	0	0	1	0	0	0	15784	1116	39	1	549	1	TCF20	22	42605941	Missense_Mutation	SNP	G	TCGA-DQ-7592-01A-11D-2078-08		42605941	8698625	85	75251											
FAM46D	169966	broad.mit.edu	37	chrX	79698533	79698533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaaatttgtgagttcactCagacggcagtttgaatttag	12	14	9	6	1	2	3	2	2	0	1	2	3	2	3	0	1	0	3	0	1	4	6			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chrX:79698533C>T	ENST00000538312.1	+	5	829	c.495C>T	c.(493-495)ctC>ctT	p.L165L	FAM46D_ENST00000308293.5_Silent_p.L165L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	165										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGAGTTCACTCAGACGGCAGT	0.368													15	29					0	0	0	0	T	79698533	C	T	79698533	2	4	392	1	0	0	0	0	0	0	0	1	5615	813	29	2		2	FAM46D	23	79698533	Silent	SNP	C	TCGA-DQ-7592-01A-11D-2078-08		79698533	75572027	86	75252											
CCNL2	81669	broad.mit.edu	37	chr1	1333700	1333700	+	Missense_Mutation	SNP	T	T	A																															cttctatcttggaagccaggTggacacaggccattgacaca																										TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:1333700T>A	ENST00000400809.3	-	3	391	c.386A>T	c.(385-387)cAc>cTc	p.H129L	CCNL2_ENST00000408918.4_Missense_Mutation_p.H129L	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	129	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGAAGCCAGGTGGACACAGGC	0.562													14	125					0	0	0	0	A	1333700	T	A	1333700	3	1	393	1	0	0	0	0	1	0	0	0	2961	1696	59	5	1238	5	CCNL2	1	1333700	Missense_Mutation	SNP	T	TCGA-DQ-7593-01A-11D-2229-08		1333700	247916921	1	75253	1015	2									
CCNL2	81669	broad.mit.edu	37	chr1	1333701	1333701	+	Missense_Mutation	SNP	G	G	A																															ttctatcttggaagccaggtGgacacaggccattgacacat																										TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:1333701G>A	ENST00000400809.3	-	3	390	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	CCNL2_ENST00000408918.4_Missense_Mutation_p.H129Y	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	129	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAAGCCAGGTGGACACAGGCC	0.557													14	122					0	0	0	0	A	1333701	G	A	1333701	3	1	393	1	0	0	0	0	1	0	0	0	2961	1348	47	4	1239	4	CCNL2	1	1333701	Missense_Mutation	SNP	G	TCGA-DQ-7593-01A-11D-2229-08	1	1333701	247916920	2	75254	1015	2									
AIDA	64853	broad.mit.edu	37	chr1	222885629	222885629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaaaactggcgccccagcGctgcagcagactccgggtca	9	5	11	16	3	1	1	1	0	0	1	2	1	2	1	4	2	4	3	4	2	2	1			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:222885629G>A	ENST00000340020.6	-	1	237	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	AIDA_ENST00000541237.1_Intron|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.R11C	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	11					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GCGCCCCAGCGCTGCAGCAGA	0.672													3	25					0	0	0	0	A	222885629	G	A	222885629	3	1	393	1	0	0	0	0	1	0	0	0	423	1087	38	1	929	1	AIDA	1	222885629	Missense_Mutation	SNP	G	TCGA-DQ-7593-01A-11D-2229-08	221551928	222885629	26364992	3	75255											
FMN2	56776	broad.mit.edu	37	chr1	240255972	240255972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacatctatagcttccattCggctacggagcaagaggatt	11	10	11	9	2	1	1	0	0	1	1	3	4	2	4	1	4	3	3	1	4	4	6			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:240255972C>T	ENST00000319653.9	+	1	793	c.563C>T	c.(562-564)tCg>tTg	p.S188L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	188					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCTTCCATTCGGCTACGGAG	0.622													14	88					0	0	0	0	T	240255972	C	T	240255972	3	4	393	1	0	0	0	0	1	0	0	0	5995	893	31	1	565	1	FMN2	1	240255972	Missense_Mutation	SNP	C	TCGA-DQ-7593-01A-11D-2229-08	17370343	240255972	8994649	4	75256											
SLC9A2	6549	broad.mit.edu	37	chr2	103274152	103274152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgcaatgaagactgatgTatttttcttgtacctcctcc	8	15	6	12	0	1	3	0	2	1	1	3	3	3	3	4	0	2	3	4	0	4	5			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr2:103274152T>C	ENST00000233969.2	+	2	561	c.419T>C	c.(418-420)gTa>gCa	p.V140A		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	140						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AAGACTGATGTATTTTTCTTG	0.463													29	168					0	0	0	0	C	103274152	T	C	103274152	3	2	393	1	0	0	0	0	1	0	0	0	14800	1638	57	5	425	5	SLC9A2	2	103274152	Missense_Mutation	SNP	T	TCGA-DQ-7593-01A-11D-2229-08		103274152	139925221	5	75257											
TTN	7273	broad.mit.edu	37	chr2	179447931	179447931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaagatttcatagccaCactcaggtctatcctgggag	13	9	9	10	0	3	1	2	0	1	1	4	2	4	2	2	2	2	1	2	2	4	3			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr2:179447931C>T	ENST00000589042.1	-	313	65823	c.65599G>A	c.(65599-65601)Gtg>Atg	p.V21867M	TTN_ENST00000342992.6_Missense_Mutation_p.V19299M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V12802M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12927M|TTN_ENST00000591111.1_Missense_Mutation_p.V20226M|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V12994M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20226	Fibronectin type-III 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATAGCCACACTCAGGTCT	0.363													3	12					0	0	0	0	T	179447931	C	T	179447931	3	4	393	1	0	0	0	0	1	0	0	0	16831	478	17	4	42580	4	TTN	2	179447931	Missense_Mutation	SNP	C	TCGA-DQ-7593-01A-11D-2229-08	76173779	179447931	63751442	6	75258											
EVC	2121	broad.mit.edu	37	chr4	5809991	5809991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcagatgcgtctgcaCgcccagcagcagcaggcagg	10	3	13	15	2	1	1	0	0	1	1	1	1	1	1	2	2	6	6	2	2	0	0			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:5809991C>T	ENST00000382674.2	+	18	2809	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	EVC_ENST00000264956.6_Silent_p.H875H			P57679	EVC_HUMAN	Ellis van Creveld syndrome	875					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGCGTCTGCACGCCCAGCAGC	0.607													11	63					0	0	0	0	T	5809991	C	T	5809991	2	4	393	1	0	0	0	0	0	0	0	1	5323	535	19	1		1	EVC	4	5809991	Silent	SNP	C	TCGA-DQ-7593-01A-11D-2229-08		5809991	185344285	7	75259											
RBM47	54502	broad.mit.edu	37	chr4	40439977	40439977	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcttggccagcgtgacctCcaggcacgagccctccagct	6	6	13	16	2	0	1	0	1	0	0	2	2	2	1	5	3	3	3	5	3	0	1			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:40439977C>A	ENST00000319592.4	-	4	1643	c.934G>T	c.(934-936)Gag>Tag	p.E312*	RBM47_ENST00000514014.1_Nonsense_Mutation_p.E274*|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Nonsense_Mutation_p.E312*|RBM47_ENST00000381793.2_Nonsense_Mutation_p.E312*|RBM47_ENST00000295971.7_Nonsense_Mutation_p.E312*			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	312	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCGTGACCTCCAGGCACGAG	0.662													22	148					8.10497e-08	9.4558e-08	1	0	A	40439977	C	A	40439977	4	1	393	1	0	0	0	0	0	1	0	0	13223	864	30	2	863	2	RBM47	4	40439977	Nonsense_Mutation	SNP	C	TCGA-DQ-7593-01A-11D-2229-08	34629986	40439977	150714299	8	75260											
KIAA1109	84162	broad.mit.edu	37	chr4	123097066	123097066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacccaaaacagaagcaaCatggtgagttttcatttttt	15	13	6	7	0	1	2	1	1	0	1	1	2	1	2	1	1	4	2	1	1	5	6			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:123097066C>A	ENST00000264501.4	+	6	728	c.355C>A	c.(355-357)Cat>Aat	p.H119N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H119N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H119N			Q2LD37	K1109_HUMAN	KIAA1109	119					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAGAAGCAACATGGTGAGTT	0.269													4	41					0.014758	0.0154959	1	0	A	123097066	C	A	123097066	3	1	393	1	0	0	0	0	1	0	0	0	8259	478	17	4	369	4	KIAA1109	4	123097066	Missense_Mutation	SNP	C	TCGA-DQ-7593-01A-11D-2229-08	82657089	123097066	68057210	9	75261											
NEIL3	55247	broad.mit.edu	37	chr4	178274739	178274739	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagaagacaacaaacgaTataactcaaccatccagcaa	20	5	4	12	1	1	2	1	0	0	2	3	3	3	2	3	0	5	1	3	0	8	2			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:178274739T>G	ENST00000264596.3	+	8	1435	c.1317T>G	c.(1315-1317)gaT>gaG	p.D439E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	439					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAACAAACGATATAACTCAAC	0.373								Base excision repair (BER), DNA glycosylases					5	44					0	0	0	0	G	178274739	T	G	178274739	3	3	393	1	0	0	0	0	1	0	0	0	10390	1403	49	5	1347	5	NEIL3	4	178274739	Missense_Mutation	SNP	T	TCGA-DQ-7593-01A-11D-2229-08	55177673	178274739	12879537	10	75262											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794477	140794477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacggttccacaggcGtggagctggcgccccgctcc	6	5	13	17	4	0	1	0	0	0	1	2	2	2	2	5	4	1	3	5	4	0	1			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr5:140794477G>A	ENST00000398610.2	+	1	1735	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACAGGCGTGGAGCTGGC	0.652													63	626					0	0	0	0	A	140794477	G	A	140794477	3	1	393	1	0	0	0	0	1	0	0	0	11622	1145	40	1	1737	1	PCDHGA10	5	140794477	Missense_Mutation	SNP	G	TCGA-DQ-7593-01A-11D-2229-08		140794477	40120783	11	75263											
HIST1H4H	8365	broad.mit.edu	37	chr6	26285431	26285431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccttagccaccgaagccGtaaagagtgcgtccctgtcg	9	7	12	13	4	0	1	0	0	0	1	2	3	1	1	5	0	4	1	5	0	4	2			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr6:26285431G>A	ENST00000289352.1	-	1	331	c.297C>T	c.(295-297)taC>taT	p.Y99Y	HIST1H4H_ENST00000377727.1_Silent_p.Y99Y			P62805	H4_HUMAN	histone cluster 1, H4h	99					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						CACCGAAGCCGTAAAGAGTGC	0.512										HNSCC(76;0.23)			16	88					0	0	0	0	A	26285431	G	A	26285431	2	1	393	1	0	0	0	0	0	0	0	1	7222	1140	40	1		1	HIST1H4H	6	26285431	Silent	SNP	G	TCGA-DQ-7593-01A-11D-2229-08		26285431	144829636	12	75264											
CARD11	84433	broad.mit.edu	37	chr7	2983865	2983865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagttggaggtctcggCtcctcatgaccgccatgttc	5	11	11	14	3	2	1	1	1	1	0	6	3	3	2	4	3	0	3	4	3	0	2			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr7:2983865C>T	ENST00000396946.4	-	5	1068	c.665G>A	c.(664-666)aGc>aAc	p.S222N	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	222					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAGGTCTCGGCTCCTCATGAC	0.562			Mis		DLBCL								23	94					0	0	0	0	T	2983865	C	T	2983865	3	4	393	1	0	0	0	0	1	0	0	0	2670	797	28	4	2883	4	CARD11	7	2983865	Missense_Mutation	SNP	C	TCGA-DQ-7593-01A-11D-2229-08		2983865	156154798	13	75265											
NFE2L3	9603	broad.mit.edu	37	chr7	26224608	26224609	+	Frame_Shift_Del	DEL	CT	CT	-																															gattcaagtcacaataatacCtctgtcatcaagtctaattc																										TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr7:26224608_26224609delCT	ENST00000056233.3	+	4	1549_1550	c.1290_1291delCT	c.(1288-1293)acctfs	p.TS430fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	430					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACAATAATACCTCTGTCATCAA	0.406													8	104	---	---	---	---					-	26224609	CT	-	26224608	7	5	393	1	0	1	0	1	0	0	0	0	10439	668	24	0	1304	0	NFE2L3	7	26224608	Frame_Shift_Del	DEL	CT	TCGA-DQ-7593-01A-11D-2229-08	23240743	26224608	132914055	14	75266											
PCMTD1	115294	broad.mit.edu	37	chr8	52732940	52732940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaaatatgtcaagtaagCttttaaagattcagggaggg	15	12	10	4	0	3	1	2	0	1	1	3	2	3	2	0	2	1	2	0	2	7	6			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr8:52732940C>T	ENST00000360540.5	-	7	1451	c.1045G>A	c.(1045-1047)Gct>Act	p.A349T	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.A349T|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A273T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	349						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTCAAGTAAGCTTTTAAAGAT	0.353													4	56					0	0	0	0	T	52732940	C	T	52732940	3	4	393	1	0	0	0	0	1	0	0	0	11657	797	28	4	32	4	PCMTD1	8	52732940	Missense_Mutation	SNP	C	TCGA-DQ-7593-01A-11D-2229-08		52732940	93631082	15	75267											
DENND4C	55667	broad.mit.edu	37	chr9	19296092	19296092	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacctgggcttgttgacGcctgtggagagaaaaatggt	10	10	14	7	1	0	2	0	1	0	1	0	4	0	3	2	3	1	3	2	3	2	2			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:19296092G>A	ENST00000380432.2	+	2	213	c.180G>A	c.(178-180)acG>acA	p.T60T	DENND4C_ENST00000602925.1_Silent_p.T296T|DENND4C_ENST00000434457.2_Silent_p.T296T|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	60						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCTTGTTGACGCCTGTGGAGA	0.393													10	74					0	0	0	0	A	19296092	G	A	19296092	2	1	393	1	0	0	0	0	0	0	0	1	4472	1074	38	1		1	DENND4C	9	19296092	Silent	SNP	G	TCGA-DQ-7593-01A-11D-2229-08		19296092	121917339	16	75268											
DIRAS2	54769	broad.mit.edu	37	chr9	93375576	93375576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttgctctttttcccgtcGatctggagactcacggtcct	4	15	9	13	3	3	1	1	0	2	1	6	3	5	1	2	2	2	2	2	2	0	3			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:93375576G>A	ENST00000375765.3	-	2	922	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	178					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.I178I(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTCCCGTCGATCTGGAGAC	0.547													9	89					0	0	0	0	A	93375576	G	A	93375576	2	1	393	1	0	0	0	0	0	0	0	1	4568	1048	37	1		1	DIRAS2	9	93375576	Silent	SNP	G	TCGA-DQ-7593-01A-11D-2229-08	74079484	93375576	47837855	17	75269											
ZNF618	114991	broad.mit.edu	37	chr9	116811047	116811047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcactgagcgtggtcagcGggaaggagttcctgaagttg	8	9	17	7	2	1	2	1	2	0	0	2	4	2	4	1	3	3	3	1	3	2	2			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:116811047G>A	ENST00000288466.7	+	14	1285	c.1186G>A	c.(1186-1188)Ggg>Agg	p.G396R	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G489R	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGTGGTCAGCGGGAAGGAGTT	0.587													16	81					0	0	0	0	A	116811047	G	A	116811047	3	1	393	1	0	0	0	0	1	0	0	0	18137	1116	39	1	1240	1	ZNF618	9	116811047	Missense_Mutation	SNP	G	TCGA-DQ-7593-01A-11D-2229-08	23435471	116811047	24402384	18	75270											
SH3GLB2	56904	broad.mit.edu	37	chr9	131783493	131783493	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacaggaactcctccactcGggcacctgtggggagacagc	10	6	12	13	1	0	1	0	0	0	1	3	3	2	2	3	4	3	1	3	4	2	1			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:131783493G>A	ENST00000372564.3	-	3	356	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SH3GLB2_ENST00000372554.4_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000372559.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000417224.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000416629.1_Nonsense_Mutation_p.R71*	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	71	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TCCTCCACTCGGGCACCTGTG	0.597													10	38					0	0	0	0	A	131783493	G	A	131783493	4	1	393	1	0	0	0	0	0	1	0	0	14342	1124	39	1	1012	1	SH3GLB2	9	131783493	Nonsense_Mutation	SNP	G	TCGA-DQ-7593-01A-11D-2229-08	14972446	131783493	9429938	19	75271											
ITIH5	80760	broad.mit.edu	37	chr10	7618686	7618686	+	Frame_Shift_Del	DEL	T	T	-																															gagacgctcgatgtggttggTgtccccctctccatcgcctc																								rs2275069	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:7618686delT	ENST00000256861.6	-	10	1786	c.1708delA	c.(1708-1710)ccfs	p.T570fs	ITIH5_ENST00000446830.2_Frame_Shift_Del_p.T352fs|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000397145.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000298441.6_Frame_Shift_Del_p.T356fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	570			T -> P (in dbSNP:rs2275069).		hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGTGGTTGGTGTCCCCCTCT	0.587													8	89	---	---	---	---					-	7618686	T	-	7618686	7	5	393	1	0	1	0	1	0	0	0	0	7960	1696	59	0	1263	0	ITIH5	10	7618686	Frame_Shift_Del	DEL	T	TCGA-DQ-7593-01A-11D-2229-08		7618686	127916061	20	75272											
BLNK	29760	broad.mit.edu	37	chr10	98031155	98031155	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattttattaagcttgtccaTtctgtttggtaattgtaaga	10	20	7	4	0	1	1	0	0	1	1	2	1	2	1	1	1	1	4	1	1	5	10			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:98031155T>C	ENST00000224337.5	-	1	142	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	BLNK_ENST00000495266.1_Start_Codon_SNP_p.M1V|BLNK_ENST00000371176.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000413476.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000427367.2_Start_Codon_SNP_p.M1V	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	1					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGCTTGTCCATTCTGTTTGGT	0.483													13	37					0	0	0	0	C	98031155	T	C	98031155	1	2	393	1	0	0	0	0	0	0	0	0	1452	1493	52	5		5	BLNK	10	98031155	Translation_Start_Site	SNP	T	TCGA-DQ-7593-01A-11D-2229-08	90412469	98031155	37503592	21	75273											
WDR11	55717	broad.mit.edu	37	chr10	122633434	122633437	+	Splice_Site	DEL	AAGT	AAGT	-																															gcatccactcatgtgaagtcAagtaagtatgtcattgtgat																										TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:122633434_122633437delAAGT	ENST00000263461.6	+	11	1801_1802	c.1556_splice	c.e11+1	p.519_splice		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	519						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGTGAAGTCAAGTAAGTATGTCA	0.373													15	47	---	---	---	---					-	122633437	AAGT	-	122633434	8	5	393	1	0	1	0	1	0	0	1	0	17369	144	5	0	1597	0	WDR11	10	122633434	Splice_Site	DEL	AAGT	TCGA-DQ-7593-01A-11D-2229-08	24602279	122633434	12901313	22	75274											
TH	7054	broad.mit.edu	37	chr11	2189347	2189347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagtccaggtcagggtCgaacttggtgaccaggtgat	9	9	14	9	1	1	2	1	2	0	0	4	3	3	2	3	4	1	0	3	4	2	1	rs139807727		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:2189347C>A	ENST00000381178.1	-	5	661	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	TH_ENST00000333684.5_Missense_Mutation_p.D188Y|TH_ENST00000381175.1_Missense_Mutation_p.D211Y|TH_ENST00000352909.3_Missense_Mutation_p.D184Y	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	215					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	AGGTCAGGGTCGAACTTGGTG	0.582													16	99					1.15088e-07	1.31828e-07	1	0	A	2189347	C	A	2189347	3	1	393	1	0	0	0	0	1	0	0	0	15932	884	31	3	983	3	TH	11	2189347	Missense_Mutation	SNP	C	TCGA-DQ-7593-01A-11D-2229-08		2189347	132817169	23	75275											
MS4A4A	51338	broad.mit.edu	37	chr11	60048157	60048157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagccctgcatgcatcaGacctacagcagacattgcag	12	6	9	14	0	1	3	1	0	0	3	1	3	1	3	3	0	6	4	3	0	1	2			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:60048157G>A	ENST00000337908.4	+	1	99	c.9G>A	c.(7-9)caG>caA	p.Q3Q	MS4A4A_ENST00000355131.3_5'UTR|MS4A4A_ENST00000532114.1_Silent_p.Q3Q	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	3						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCATGCATCAGACCTACAGCA	0.502													10	55					0	0	0	0	A	60048157	G	A	60048157	2	1	393	1	0	0	0	0	0	0	0	1	9932	933	33	2		2	MS4A4A	11	60048157	Silent	SNP	G	TCGA-DQ-7593-01A-11D-2229-08	57858810	60048157	74958359	24	75276											
UTP20	27340	broad.mit.edu	37	chr12	101740295	101740295	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcaaagttgttctgTcttctaaatctcttcagaat	11	15	8	7	0	5	1	1	0	4	1	6	2	5	2	0	2	0	3	0	2	5	5			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:101740295T>A	ENST00000261637.4	+	38	4987	c.4813T>A	c.(4813-4815)Tct>Act	p.S1605T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1605					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGTTGTTCTGTCTTCTAAATC	0.368													13	46					0	0	0	0	A	101740295	T	A	101740295	3	1	393	1	0	0	0	0	1	0	0	0	17195	1667	58	5	4963	5	UTP20	12	101740295	Missense_Mutation	SNP	T	TCGA-DQ-7593-01A-11D-2229-08		101740295	32111600	25	75277											
IPO4	79711	broad.mit.edu	37	chr14	24655611	24655611	+	Frame_Shift_Del	DEL	A	A	-																															gctcagcagccacaatggggAaaagggtgtgcagcaagggt																										TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:24655611delA	ENST00000354464.6	-	10	1063	c.887delT	c.(886-888)tcfs	p.F296fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	296					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CACAATGGGGAAAAGGGTGTG	0.567													7	415	---	---	---	---					-	24655611	A	-	24655611	7	5	393	1	0	1	0	1	0	0	0	0	7848	246	9	0	2442	0	IPO4	14	24655611	Frame_Shift_Del	DEL	A	TCGA-DQ-7593-01A-11D-2229-08		24655611	82693929	26	75278											
RTN1	6252	broad.mit.edu	37	chr14	60074190	60074190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtctgcttgatgtcccGccaatacaacaggtcaatag	10	9	9	13	2	2	1	1	1	1	0	3	1	3	1	3	1	3	1	3	1	5	3			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:60074190G>A	ENST00000267484.5	-	4	2121	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	RTN1_ENST00000395090.1_Missense_Mutation_p.R13W|RTN1_ENST00000342503.4_Missense_Mutation_p.R28W|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	596	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.R596W(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGATGTCCCGCCAATACAAC	0.602													3	28					0	0	0	0	A	60074190	G	A	60074190	3	1	393	1	0	0	0	0	1	0	0	0	13810	1086	38	1	568	1	RTN1	14	60074190	Missense_Mutation	SNP	G	TCGA-DQ-7593-01A-11D-2229-08	35418579	60074190	47275350	27	75279											
SERPINA9	327657	broad.mit.edu	37	chr14	94942635	94942635	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaagacatgcaaatgataTattatttttattctccagct	14	16	4	7	0	1	2	0	1	1	1	2	2	1	2	1	0	2	2	1	0	6	8	rs78913733	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:94942635T>C	ENST00000546329.1	-	0	35				SERPINA9_ENST00000539349.1_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			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)		gcaaatgatatattattttta	0.383													4	44					0	0	0	0	C	94942635	T	C	94942635	1	2	393	1	0	0	0	0	0	0	0	0	14182	1421	49	5		5	SERPINA9	14	94942635	Translation_Start_Site	SNP	T	TCGA-DQ-7593-01A-11D-2229-08	34868445	94942635	12406905	28	75280											
CHP2	63928	broad.mit.edu	37	chr16	23767738	23767738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctatgacctggatcgcGatgggaagatctccaggcat	10	9	12	10	2	2	2	0	1	2	1	4	5	2	4	2	3	1	2	2	3	2	1	rs79455352	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr16:23767738G>T	ENST00000300113.2	+	5	805	c.382G>T	c.(382-384)Gat>Tat	p.D128Y		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	128	EF-hand 3.						calcium ion binding	p.D128Y(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537													3	35					6.4e-05	6.8339e-05	1	0	T	23767738	G	T	23767738	3	4	393	1	0	0	0	0	1	0	0	0	3396	1058	37	3	400	3	CHP2	16	23767738	Missense_Mutation	SNP	G	TCGA-DQ-7593-01A-11D-2229-08		23767738	66587015	29	75281											
CYLD	1540	broad.mit.edu	37	chr16	50830344	50830345	+	Frame_Shift_Ins	INS	-	-	GG																															tggactccaggagaatccaaINSggctgtgcacgaagactgct																										TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr16:50830344_50830345insGG	ENST00000540145.1	+	19	3211_3212	c.2796_2797insGG	c.(2794-2799)cagctgfs	p.L933fs	CYLD_ENST00000564326.1_Frame_Shift_Ins_p.L930fs|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.L930fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.L930fs|CYLD_ENST00000568704.2_Frame_Shift_Ins_p.L748fs|CYLD_ENST00000427738.3_Frame_Shift_Ins_p.L933fs|CYLD_ENST00000311559.9_Frame_Shift_Ins_p.L933fs|RP11-327F22.4_ENST00000564510.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	933					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGAGAATCCAAGGCTGTGCACG	0.465			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				19	54	---	---	---	---					GG	50830345	-	GG	50830344	7	5	393	1	0	1	1	0	0	0	0	0	4175	69	3	0	2862	0	CYLD	16	50830344	Frame_Shift_Ins	INS	-	TCGA-DQ-7593-01A-11D-2229-08	27062606	50830344	39524409	30	75282											
DNAH9	1770	broad.mit.edu	37	chr17	11666923	11666923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcggcggagcaatggtcCaagatcaggtaaggagatat	12	9	13	7	2	1	2	1	0	0	2	3	4	2	3	1	5	1	2	1	5	4	3			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr17:11666923C>A	ENST00000262442.3	+	36	7230	c.7162C>A	c.(7162-7164)Caa>Aaa	p.Q2388K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2388K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2388					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAATGGTCCAAGATCAGGT	0.463													3	35					0.150653	0.153083	1	0	A	11666923	C	A	11666923	3	1	393	1	0	0	0	0	1	0	0	0	4644	595	21	4	7304	4	DNAH9	17	11666923	Missense_Mutation	SNP	C	TCGA-DQ-7593-01A-11D-2229-08		11666923	69528287	31	75283											
MCOLN1	57192	broad.mit.edu	37	chr19	7592422	7592423	+	Frame_Shift_Ins	INS	-	-	C																															tagactgcatccaggtggatINSccccccgagcggccccctcc																								rs145706318	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:7592422_7592423insC	ENST00000264079.6	+	5	713_714	c.588_589insC	c.(586-591)gaccccfs	p.DP196fs		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	196					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCAGGTGGATCCCCCCGAGCG	0.639													8	501	---	---	---	---					C	7592423	-	C	7592422	7	5	393	1	0	1	1	0	0	0	0	0	9464	1432	50	0	606	0	MCOLN1	19	7592422	Frame_Shift_Ins	INS	-	TCGA-DQ-7593-01A-11D-2229-08		7592422	51536561	32	75284											
CILP2	148113	broad.mit.edu	37	chr19	19651098	19651098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgccatccgcttctaCtacgggccagcgcgcgtgtg	4	9	13	15	5	1	0	0	0	1	0	2	0	2	0	3	2	4	2	3	2	2	3			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:19651098C>T	ENST00000586018.1	+	3	369	c.267C>T	c.(265-267)taC>taT	p.Y89Y	CILP2_ENST00000291495.4_Silent_p.Y83Y			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	83						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCCGCTTCTACTACGGGCCAG	0.721													6	28					0	0	0	0	T	19651098	C	T	19651098	2	4	393	1	0	0	0	0	0	0	0	1	3459	576	20	4		4	CILP2	19	19651098	Silent	SNP	C	TCGA-DQ-7593-01A-11D-2229-08	12058676	19651098	39477885	33	75285											
DYRK1B	9149	broad.mit.edu	37	chr19	40316437	40316437	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcatcaggaggcgggAggggtggacgacctccagtc	8	5	18	10	2	2	0	2	0	0	0	4	4	3	3	2	7	0	0	2	7	0	0			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:40316437A>G	ENST00000593685.1	-	11	2276	c.1808T>C	c.(1807-1809)cTc>cCc	p.L603P	DYRK1B_ENST00000597639.1_Missense_Mutation_p.L575P|DYRK1B_ENST00000430012.2_Missense_Mutation_p.L563P|DYRK1B_ENST00000348817.3_Missense_Mutation_p.L575P|DYRK1B_ENST00000323039.5_Missense_Mutation_p.L603P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	603					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGGAGGCGGGAGGGGTGGACG	0.721													6	16					0	0	0	0	G	40316437	A	G	40316437	3	3	393	1	0	0	0	0	1	0	0	0	4891	304	11	5	85	5	DYRK1B	19	40316437	Missense_Mutation	SNP	A	TCGA-DQ-7593-01A-11D-2229-08	20665339	40316437	18812546	34	75286											
EP300	2033	broad.mit.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtatacatatcttacctcGatagtgttcatttcttccgt	9	17	6	9	2	3	0	1	0	2	0	5	2	4	0	2	0	2	2	2	0	5	8			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				5	34					0	0	0	0	A	41565529	G	A	41565529	3	1	393	1	0	0	0	0	1	0	0	0	5186	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-DQ-7593-01A-11D-2229-08		41565529	9739037	35	75287											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	386	---	---	---	---					C	107977803	-	C	107977802	7	5	393	1	0	1	1	0	0	0	0	0	7895	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-DQ-7593-01A-11D-2229-08		107977802	47292758	36	75288											
PTCHD2	57540	broad.mit.edu	37	chr1	11562015	11562015	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaagccccacgaggtgctCaaggatctgccgctgggctc	7	7	14	13	2	2	0	1	0	1	0	3	3	2	2	3	4	3	3	3	4	2	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:11562015C>G	ENST00000294484.6	+	2	1104	c.966C>G	c.(964-966)ctC>ctG	p.L322L	PTCHD2_ENST00000389575.3_Silent_p.L322L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	322					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACGAGGTGCTCAAGGATCTGC	0.592													4	37					0	0	0	0	G	11562015	C	G	11562015	2	3	394	1	0	0	0	0	0	0	0	1	12812	813	29	2		2	PTCHD2	1	11562015	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		11562015	237688606	1	75289											
AADACL3	126767	broad.mit.edu	37	chr1	12785373	12785373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttgtggacaggccagatCtgccccggatccgggctcag	8	7	13	13	2	2	1	1	0	1	1	3	3	3	3	4	4	2	1	4	4	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:12785373C>G	ENST00000332530.3	+	3	479	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	AADACL3_ENST00000359318.5_Missense_Mutation_p.L155V	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	155							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCCAGATCTGCCCCGGAT	0.542													38	145					0	0	0	0	G	12785373	C	G	12785373	3	3	394	1	0	0	0	0	1	0	0	0	12	912	32	2	481	2	AADACL3	1	12785373	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1223358	12785373	236465248	2	75290											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907292	12907292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggccattggtgctgtctCtgtcatcctctccttcctca	3	15	7	16	0	4	0	2	0	2	0	8	0	6	0	5	2	1	1	5	2	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:12907292C>T	ENST00000317869.6	-	2	1076	c.851G>A	c.(850-852)aGa>aAa	p.R284K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGTGCTGTCTCTGTCATCCTC	0.453													26	66					0	0	0	0	T	12907292	C	T	12907292	3	4	394	1	0	0	0	0	1	0	0	0	7313	913	32	2	32	2	HNRNPCL1	1	12907292	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	121919	12907292	236343329	3	75291											
NBPF1	55672	broad.mit.edu	37	chr1	16907943	16907943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgattccagtactttctCagcctcctcaacttgaacat	11	13	5	12	0	2	3	2	2	1	1	5	3	4	3	3	0	4	1	3	0	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:16907943C>G	ENST00000430580.2	-	15	2238	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	451	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACTTTCTCAGCCTCCTCA	0.433													15	905					0	0	0	0	G	16907943	C	G	16907943	3	3	394	1	0	0	0	0	1	0	0	0	10262	835	29	2	2133	2	NBPF1	1	16907943	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4000651	16907943	232342678	4	75292											
CROCC	9696	broad.mit.edu	37	chr1	17270681	17270681	+	Frame_Shift_Del	DEL	C	C	-																															gcgggagaagctgcaggctgCccaggaggagctgcggcgcc																										TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:17270681delC	ENST00000375541.5	+	14	1964	c.1895delC	c.(1894-1896)gcfs	p.A632fs	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	632					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGCAGGCTGCCCAGGAGGAG	0.706													2	4	---	---	---	---					-	17270681	C	-	17270681	7	5	394	1	0	1	0	1	0	0	0	0	3923	739	26	0	1949	0	CROCC	1	17270681	Frame_Shift_Del	DEL	C	TCGA-DQ-7594-01A-11D-2229-08	362738	17270681	231979940	5	75293											
C1QA	712	broad.mit.edu	37	chr1	22965523	22965523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagccttctccgccattCggcggaaccccccaatgggg	6	6	12	17	3	1	0	0	0	1	0	3	1	1	1	7	5	2	0	7	5	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:22965523C>T	ENST00000374642.3	+	3	565	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	C1QA_ENST00000402322.1_Missense_Mutation_p.R121W	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	121	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCGCCATTCGGCGGAACCC	0.632													4	19					0	0	0	0	T	22965523	C	T	22965523	3	4	394	1	0	0	0	0	1	0	0	0	1973	875	31	1	367	1	C1QA	1	22965523	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5694842	22965523	226285098	6	75294											
GRIK3	2899	broad.mit.edu	37	chr1	37356644	37356644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaaaatcgaaaggcatgctCctcggcattcatgacctggg	12	8	11	10	2	1	2	1	1	0	1	4	3	2	2	2	3	1	3	2	3	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:37356644C>T	ENST00000373091.3	-	2	185	c.169G>A	c.(169-171)Gag>Aag	p.E57K	GRIK3_ENST00000373093.4_Missense_Mutation_p.E57K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	57					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAGGCATGCTCCTCGGCATTC	0.507													10	204					0	0	0	0	T	37356644	C	T	37356644	3	4	394	1	0	0	0	0	1	0	0	0	6825	864	30	2	2650	2	GRIK3	1	37356644	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	14391121	37356644	211893977	7	75295											
IPO13	9670	broad.mit.edu	37	chr1	44429943	44429943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctttattatattttagggCccagggatcatcctgatatt	10	17	7	7	0	2	1	1	1	1	0	3	2	3	2	2	2	0	0	2	2	5	8			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:44429943C>T	ENST00000372343.3	+	15	3009	c.2347C>T	c.(2347-2349)Ccc>Tcc	p.P783S		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	783					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TATTTTAGGGCCCAGGGATCA	0.388													7	52					0	0	0	0	T	44429943	C	T	44429943	3	4	394	1	0	0	0	0	1	0	0	0	7847	739	26	4	2405	4	IPO13	1	44429943	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	7073299	44429943	204820678	8	75296											
PLK3	1263	broad.mit.edu	37	chr1	45266755	45266755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gacctgcagcaccgccacatCgtgcgtttttcgcaccactt	7	10	8	16	4	0	0	0	0	0	0	2	1	0	0	4	0	3	4	4	0	0	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:45266755C>G	ENST00000372201.4	+	3	605	c.366C>G	c.(364-366)atC>atG	p.I122M	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	122	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.I83I(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACCGCCACATCGTGCGTTTTT	0.547													9	39					0	0	0	0	G	45266755	C	G	45266755	3	3	394	1	0	0	0	0	1	0	0	0	12169	874	31	3	376	3	PLK3	1	45266755	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	836812	45266755	203983866	9	75297											
PLK3	1263	broad.mit.edu	37	chr1	45269014	45269014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaccccccaacccagctagGagtctgtttgccaaagttac	11	8	7	15	0	1	0	0	0	1	0	1	1	1	1	5	1	4	3	5	1	4	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:45269014G>A	ENST00000372201.4	+	8	1262	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	341						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACCCAGCTAGGAGTCTGTTTG	0.572													12	40					0	0	0	0	A	45269014	G	A	45269014	2	1	394	1	0	0	0	0	0	0	0	1	12169	1165	41	2		2	PLK3	1	45269014	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2259	45269014	203981607	10	75298											
TOE1	114034	broad.mit.edu	37	chr1	45808108	45808108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctattcctggagctaatccGagcccgccggcccctggtgc	5	8	11	17	3	0	0	0	0	0	0	2	2	2	1	7	3	3	1	7	3	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:45808108G>A	ENST00000372090.5	+	6	1128	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.R102Q	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	182						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GAGCTAATCCGAGCCCGCCGG	0.552													4	127					0	0	0	0	A	45808108	G	A	45808108	3	1	394	1	0	0	0	0	1	0	0	0	16443	1058	37	1	567	1	TOE1	1	45808108	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	539094	45808108	203442513	11	75299											
CPT2	1376	broad.mit.edu	37	chr1	53676214	53676214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccgagtttcccctggcaTacctgaccagtgagaaccga	9	7	9	16	2	0	2	0	2	0	1	1	5	1	2	7	1	2	2	7	1	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:53676214T>A	ENST00000371486.3	+	4	1383	c.868T>A	c.(868-870)Tac>Aac	p.Y290N	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	290					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TCCCCTGGCATACCTGACCAG	0.557													4	115					0	0	0	0	A	53676214	T	A	53676214	3	1	394	1	0	0	0	0	1	0	0	0	3864	1406	49	5	882	5	CPT2	1	53676214	Missense_Mutation	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	7868106	53676214	195574407	12	75300											
HSPB11	51668	broad.mit.edu	37	chr1	54387376	54387376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagaaacgctatgcacaGatgcaaaatgatcaaaggct	16	7	9	9	1	1	3	1	1	0	2	1	3	1	3	0	1	4	5	0	1	5	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:54387376G>A	ENST00000194214.5	-	6	772	c.383C>T	c.(382-384)tCt>tTt	p.S128F	HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	128					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GCTATGCACAGATGCAAAATG	0.338													4	87					0	0	0	0	A	54387376	G	A	54387376	3	1	394	1	0	0	0	0	1	0	0	0	7471	942	33	2	55	2	HSPB11	1	54387376	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	711162	54387376	194863245	13	75301											
INADL	10207	broad.mit.edu	37	chr1	62594530	62594530	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggttggagatcggattgtCagcattaacgggcaaccttt	10	11	12	8	2	1	1	1	0	0	1	2	3	1	2	1	4	3	3	1	4	2	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:62594530C>T	ENST00000371158.2	+	41	5298	c.5184C>T	c.(5182-5184)gtC>gtT	p.V1728V		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1728	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCGGATTGTCAGCATTAACG	0.423													22	82					0	0	0	0	T	62594530	C	T	62594530	2	4	394	1	0	0	0	0	0	0	0	1	7784	813	29	2		2	INADL	1	62594530	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	8207154	62594530	186656091	14	75302											
LEPR	3953	broad.mit.edu	37	chr1	66102461	66102461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtcacctcaatcaaaaaGagagagagtggtgtgctttt	12	10	13	6	0	3	2	3	0	0	2	3	4	3	2	1	3	1	1	1	3	3	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:66102461G>C	ENST00000349533.6	+	20	3446	c.3261G>C	c.(3259-3261)aaG>aaC	p.K1087N	LEPR_ENST00000406510.3_Missense_Mutation_p.K154N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1087					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAATCAAAAAGAGAGAGAGTG	0.418													14	53					0	0	0	0	C	66102461	G	C	66102461	3	2	394	1	0	0	0	0	1	0	0	0	8781	933	33	2	3561	2	LEPR	1	66102461	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3507931	66102461	183148160	15	75303											
WDR78	79819	broad.mit.edu	37	chr1	67390435	67390435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaccacccctttttttggCcgcctctgaagtccctgtac	5	13	7	16	1	1	1	0	1	1	0	2	1	2	1	6	1	2	2	6	1	2	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:67390435C>T	ENST00000371026.3	-	1	135	c.80G>A	c.(79-81)gGc>gAc	p.G27D	WDR78_ENST00000371022.3_Missense_Mutation_p.G27D|WDR78_ENST00000371023.3_Missense_Mutation_p.G27D|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	27										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTTTTTTTGGCCGCCTCTGAA	0.637													4	150					0	0	0	0	T	67390435	C	T	67390435	3	4	394	1	0	0	0	0	1	0	0	0	17424	739	26	4	2591	4	WDR78	1	67390435	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1287974	67390435	181860186	16	75304											
SERBP1	26135	broad.mit.edu	37	chr1	67890791	67890791	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcacttccactatgcctatCaaattcacgtttgccacgag	11	12	5	13	2	3	0	3	0	0	0	4	1	4	0	3	0	2	1	3	0	3	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:67890791C>G	ENST00000370994.4	-	3	694	c.580G>C	c.(580-582)Gat>Cat	p.D194H	SERBP1_ENST00000361219.6_Missense_Mutation_p.D194H|SERBP1_ENST00000370995.2_Missense_Mutation_p.D194H|SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000370990.5_Missense_Mutation_p.D194H	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	194					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTATGCCTATCAAATTCACGT	0.398													7	86					0	0	0	0	G	67890791	C	G	67890791	3	3	394	1	0	0	0	0	1	0	0	0	14162	826	29	2	670	2	SERBP1	1	67890791	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	500356	67890791	181359830	17	75305											
ANKRD13C	81573	broad.mit.edu	37	chr1	70761926	70761926	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaatatccacctcttcttCtgtttccatctctgattcct	8	18	2	13	0	4	1	0	1	4	0	8	1	7	1	4	0	0	1	4	0	3	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:70761926C>G	ENST00000370944.4	-	8	1253	c.940G>C	c.(940-942)Gaa>Caa	p.E314Q	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.E279Q	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	314					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ACCTCTTCTTCTGTTTCCATC	0.333													19	57					0	0	0	0	G	70761926	C	G	70761926	3	3	394	1	0	0	0	0	1	0	0	0	643	922	32	2	709	2	ANKRD13C	1	70761926	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2871135	70761926	178488695	18	75306											
AK5	26289	broad.mit.edu	37	chr1	77806202	77806202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactaatgaacttcaagcaGaatgctgctccattggttaa	14	11	8	8	0	1	3	1	1	0	2	2	3	2	3	1	1	4	4	1	1	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:77806202G>A	ENST00000344720.5	+	6	1788	c.762G>A	c.(760-762)caG>caA	p.Q254Q	AK5_ENST00000354567.2_Silent_p.Q280Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	280					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ACTTCAAGCAGAATGCTGCTC	0.438													17	71					0	0	0	0	A	77806202	G	A	77806202	2	1	394	1	0	0	0	0	0	0	0	1	443	933	33	2		2	AK5	1	77806202	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	7044276	77806202	171444419	19	75307											
CDC7	8317	broad.mit.edu	37	chr1	91978660	91978660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaaggaacccatgatacGaaaatagagcttcttaaatt	16	9	7	9	1	1	2	0	1	1	1	1	4	1	3	2	1	3	1	2	1	8	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:91978660G>A	ENST00000428239.1	+	7	877	c.618G>A	c.(616-618)acG>acA	p.T206T	CDC7_ENST00000234626.6_Silent_p.T206T|CDC7_ENST00000430031.2_Silent_p.T178T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	206	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CCCATGATACGAAAATAGAGC	0.383													7	32					0	0	0	0	A	91978660	G	A	91978660	2	1	394	1	0	0	0	0	0	0	0	1	3113	1045	37	1		1	CDC7	1	91978660	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	14172458	91978660	157271961	20	75308											
WDR47	22911	broad.mit.edu	37	chr1	109553761	109553761	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catataggcatcagctgattGaggtcttctcattggggatg	9	13	12	7	0	3	2	2	2	2	0	4	3	3	3	0	4	1	2	0	4	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:109553761G>A	ENST00000357672.3	-	4	1198	c.823C>T	c.(823-825)Caa>Taa	p.Q275*	WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q310*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q303*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.Q275*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q303*			O94967	WDR47_HUMAN	WD repeat domain 47	303										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCAGCTGATTGAGGTCTTCTC	0.438													14	336					0	0	0	0	A	109553761	G	A	109553761	4	1	394	1	0	0	0	0	0	1	0	0	17396	1299	45	2	1899	2	WDR47	1	109553761	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	17575101	109553761	139696860	21	75309											
PDE4DIP	9659	broad.mit.edu	37	chr1	144864167	144864167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagggaaagacgttcCtccctgaaatgcaagacctc	11	8	10	12	1	0	3	0	1	0	2	4	5	3	5	4	2	1	2	4	2	3	1	rs144937686	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:144864167C>T	ENST00000369359.4	-	39	6374	c.6336G>A	c.(6334-6336)gaG>gaA	p.E2112E	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.E2061E|PDE4DIP_ENST00000313382.9_Silent_p.E1870E|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.E1976E|PDE4DIP_ENST00000369354.3_Silent_p.E1976E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1976					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAAGACGTTCCTCCCTGAAAT	0.473			T	PDGFRB	MPD								6	501					0	0	0	0	T	144864167	C	T	144864167	2	4	394	1	0	0	0	0	0	0	0	1	11714	680	24	4		4	PDE4DIP	1	144864167	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	35310406	144864167	104386454	22	75310											
PDE4DIP	9659	broad.mit.edu	37	chr1	145015895	145015895	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcctgggtctgtacctGagggggtttctcaaatgctc	8	11	13	9	0	2	2	1	1	2	1	4	2	2	2	2	3	3	3	2	3	3	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:145015895G>A	ENST00000369359.4	-	3	444	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q136*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.Q136*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCTGTACCTGAGGGGGTTTC	0.463			T	PDGFRB	MPD								45	862					0	0	0	0	A	145015895	G	A	145015895	4	1	394	1	0	0	0	0	0	1	0	0	11714	1299	45	2	8398	2	PDE4DIP	1	145015895	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	151728	145015895	104234726	23	75311											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858569	149858569	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggcccgcgccaaggcCaagtcgcgctcgtcccgcgc	6	3	14	18	7	0	0	0	0	0	0	3	0	1	0	4	3	0	2	4	3	3	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:149858569C>G	ENST00000331380.2	+	1	45	c.45C>G	c.(43-45)gcC>gcG	p.A15A		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	15					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCCAAGGCCAAGTCGCGCT	0.617													25	106					0	0	0	0	G	149858569	C	G	149858569	2	3	394	1	0	0	0	0	0	0	0	1	7228	581	21	4		4	HIST2H2AC	1	149858569	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4842674	149858569	99392052	24	75312											
IL6R	3570	broad.mit.edu	37	chr1	154426976	154426976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacctagtgcaagattcttCttcagtaccactgcccacat	11	12	5	13	0	3	1	1	0	2	1	3	1	3	1	3	0	4	2	3	0	4	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:154426976C>G	ENST00000368485.3	+	9	1516	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C	IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	360					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGATTCTTCTTCAGTACCA	0.478													5	15					0	0	0	0	G	154426976	C	G	154426976	3	3	394	1	0	0	0	0	1	0	0	0	7755	913	32	2	1113	2	IL6R	1	154426976	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4568407	154426976	94823645	25	75313											
THBS3	7059	broad.mit.edu	37	chr1	155165634	155165634	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggtggcctcctcctcAcacccttccctggagcagct	6	10	8	17	0	2	0	1	0	1	0	5	1	5	1	5	3	2	2	5	3	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155165634A>G	ENST00000368378.3	-	23	2889	c.2869T>C	c.(2869-2871)Tga>Cga	p.*957R	THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Nonstop_Mutation_p.*837R|THBS3_ENST00000541576.1_Nonstop_Mutation_p.*354R|THBS3_ENST00000541990.1_Nonstop_Mutation_p.*486R	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	0					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.?(2)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCCTCCTCACACCCTTCCC	0.547													4	168					0	0	0	0	G	155165634	A	G	155165634	4	3	394	1	0	0	0	0	0	0	0	0	15949	172	6	5	5	5	THBS3	1	155165634	Nonstop_Mutation	SNP	A	TCGA-DQ-7594-01A-11D-2229-08	738658	155165634	94084987	26	75314											
HCN3	57657	broad.mit.edu	37	chr1	155258154	155258154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgagcggctgcctccctCagggctcctggccaaacctc	7	7	11	16	1	1	1	1	1	0	0	4	1	3	1	5	3	3	2	5	3	2	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155258154C>T	ENST00000368358.3	+	8	2233	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	742	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCTCCCTCAGGGCTCCTG	0.662													22	61					0	0	0	0	T	155258154	C	T	155258154	3	4	394	1	0	0	0	0	1	0	0	0	7048	838	29	2	2255	2	HCN3	1	155258154	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	92520	155258154	93992467	27	75315											
ASH1L	55870	broad.mit.edu	37	chr1	155317589	155317589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcctcacttgctgtctctCccacaatctcatcaatctgg	7	13	5	16	0	5	0	3	0	3	0	8	0	6	0	2	1	2	1	2	1	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155317589C>G	ENST00000368346.3	-	20	8315	c.7676G>C	c.(7675-7677)gGa>gCa	p.G2559A	ASH1L_ENST00000392403.3_Missense_Mutation_p.G2554A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2559					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCTGTCTCTCCCACAATCTC	0.507													4	121					0	0	0	0	G	155317589	C	G	155317589	3	3	394	1	0	0	0	0	1	0	0	0	1045	855	30	2	1269	2	ASH1L	1	155317589	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	59435	155317589	93933032	28	75316											
YY1AP1	55249	broad.mit.edu	37	chr1	155630584	155630584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagtttcactccccaactCtgagttgtctttttctaggc	6	15	7	13	1	4	1	1	1	3	0	5	2	5	1	3	1	1	2	3	1	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155630584C>T	ENST00000368340.5	-	10	1579	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	YY1AP1_ENST00000405763.3_3'UTR|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E362K|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E219K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E342K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E373K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E373K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E511K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E362K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E353K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E373K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E342K|YY1AP1_ENST00000295566.4_Missense_Mutation_p.E419K	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTCCCCAACTCTGAGTTGTCT	0.502													15	70					0	0	0	0	T	155630584	C	T	155630584	3	4	394	1	0	0	0	0	1	0	0	0	17604	922	32	2	1139	2	YY1AP1	1	155630584	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	312995	155630584	93620037	29	75317											
RIT1	6016	broad.mit.edu	37	chr1	155870348	155870348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatagtagcggtatgcagcaGatgtctcaaaaaagggacag	15	8	12	6	1	1	1	1	0	1	1	2	2	1	2	0	2	3	4	0	2	7	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155870348G>C	ENST00000368323.3	-	6	695	c.491C>G	c.(490-492)tCt>tGt	p.S164C	RIT1_ENST00000539040.1_Missense_Mutation_p.S128C|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.S181C	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	164					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GTATGCAGCAGATGTCTCAAA	0.433													4	154					0	0	0	0	C	155870348	G	C	155870348	3	2	394	1	0	0	0	0	1	0	0	0	13471	942	33	2	172	2	RIT1	1	155870348	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	239764	155870348	93380273	30	75318											
ATP1A2	477	broad.mit.edu	37	chr1	160099964	160099964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggggccccagagcgcattCtggaccggtgctccaccatc	7	6	13	15	2	1	1	0	0	1	1	3	2	2	2	5	4	2	2	5	4	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:160099964C>T	ENST00000361216.3	+	12	1623	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L512L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	512					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAGCGCATTCTGGACCGGTG	0.582													25	82					0	0	0	0	T	160099964	C	T	160099964	2	4	394	1	0	0	0	0	0	0	0	1	1133	912	32	2		2	ATP1A2	1	160099964	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4229616	160099964	89150657	31	75319											
NOS1AP	9722	broad.mit.edu	37	chr1	162337156	162337156	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaacacggacgagagcGaggagcgcgactcgtggtcc	10	4	15	12	6	0	1	0	0	0	1	3	6	2	3	2	3	3	0	2	3	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:162337156G>T	ENST00000493151.1	+	2	2902	c.535G>T	c.(535-537)Gag>Tag	p.E179*	NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Nonsense_Mutation_p.E469*|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000361897.5_Nonsense_Mutation_p.E474*	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	474	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGACGAGAGCGAGGAGCGCGA	0.662													5	18					1	1	1	0	T	162337156	G	T	162337156	4	4	394	1	0	0	0	0	0	1	0	0	10612	1059	37	3	1512	3	NOS1AP	1	162337156	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2237192	162337156	86913465	32	75320											
F5	2153	broad.mit.edu	37	chr1	169511588	169511588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggaaggagaaccagtgtCttggctaggaaggtcctccc	9	9	13	10	0	2	1	0	0	2	1	4	4	4	3	3	5	1	1	3	5	4	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:169511588C>T	ENST00000367796.3	-	13	2956	c.2755G>A	c.(2755-2757)Gac>Aac	p.D919N	F5_ENST00000367797.3_Missense_Mutation_p.D914N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	914	2 X 17 AA tandem repeats.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAACCAGTGTCTTGGCTAGGA	0.478													21	105					0	0	0	0	T	169511588	C	T	169511588	3	4	394	1	0	0	0	0	1	0	0	0	5386	913	32	2	3986	2	F5	1	169511588	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	7174432	169511588	79739033	33	75321											
QSOX1	5768	broad.mit.edu	37	chr1	180163463	180163463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctccatgcaccgggtgggGagtcccaacgccgctgtcct	5	7	13	16	3	0	0	0	0	0	0	3	1	3	1	6	3	2	2	6	3	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:180163463G>A	ENST00000367602.3	+	11	1478	c.1404G>A	c.(1402-1404)ggG>ggA	p.G468G	QSOX1_ENST00000367600.5_Silent_p.G468G			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	468	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCGGGTGGGGAGTCCCAACG	0.617													11	54					0	0	0	0	A	180163463	G	A	180163463	2	1	394	1	0	0	0	0	0	0	0	1	12965	1161	41	2		2	QSOX1	1	180163463	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	10651875	180163463	69087158	34	75322											
HMCN1	83872	broad.mit.edu	37	chr1	185985316	185985316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcgaggacagtacatatgCgtggctaccagtgtggcagg	10	8	15	8	2	0	0	0	0	0	0	1	3	0	1	1	4	3	3	1	4	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:185985316C>T	ENST00000271588.4	+	32	5365	c.5136C>T	c.(5134-5136)tgC>tgT	p.C1712C	HMCN1_ENST00000367492.2_Silent_p.C1712C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1712	Ig-like C2-type 14.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.C1712C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTACATATGCGTGGCTACCA	0.433													10	100					0	0	0	0	T	185985316	C	T	185985316	2	4	394	1	0	0	0	0	0	0	0	1	7270	776	27	1		1	HMCN1	1	185985316	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5821853	185985316	63265305	35	75323											
ASPM	259266	broad.mit.edu	37	chr1	197087024	197087024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccaatatttctgaatgacGagtgctgcattaactctttt	10	15	7	9	2	2	2	0	2	2	0	2	3	2	2	1	0	3	2	1	0	4	5	rs148964635		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:197087024G>A	ENST00000367409.4	-	17	4216	c.3960C>T	c.(3958-3960)ctC>ctT	p.L1320L	ASPM_ENST00000367408.1_Silent_p.L570L|ASPM_ENST00000294732.7_Silent_p.L1320L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1320					mitosis	cytoplasm|nucleus	calmodulin binding	p.L1320L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTGAATGACGAGTGCTGCAT	0.313													32	133					0	0	0	0	A	197087024	G	A	197087024	2	1	394	1	0	0	0	0	0	0	0	1	1060	1045	37	1		1	ASPM	1	197087024	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	11101708	197087024	52163597	36	75324											
PTPRC	5788	broad.mit.edu	37	chr1	198703477	198703477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccagggatgaaactgttGatgatttctggaggatgatt	10	13	13	5	0	1	4	0	4	1	0	2	7	2	7	1	3	1	1	1	3	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:198703477G>A	ENST00000367376.2	+	22	2365	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N	PTPRC_ENST00000352140.3_Missense_Mutation_p.D684N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D573N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	732	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAAACTGTTGATGATTTCTG	0.348													23	379					0	0	0	0	A	198703477	G	A	198703477	3	1	394	1	0	0	0	0	1	0	0	0	12879	1290	45	2	2287	2	PTPRC	1	198703477	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1616453	198703477	50547144	37	75325											
TNNT2	7139	broad.mit.edu	37	chr1	201334430	201334430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttctccatgcgcttccggtgGatgtcctgtgggtggaccgc	3	12	14	12	3	1	0	0	0	1	0	4	2	3	2	4	4	1	1	4	4	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:201334430G>C	ENST00000509001.1	-	9	556	c.270C>G	c.(268-270)atC>atG	p.I90M	TNNT2_ENST00000236918.7_Missense_Mutation_p.I95M|TNNT2_ENST00000367315.2_Missense_Mutation_p.I90M|TNNT2_ENST00000360372.4_Missense_Mutation_p.I85M|TNNT2_ENST00000421663.2_Missense_Mutation_p.I92M|TNNT2_ENST00000458432.2_Missense_Mutation_p.I102M|TNNT2_ENST00000367317.4_Missense_Mutation_p.I90M|TNNT2_ENST00000367318.5_Missense_Mutation_p.I90M|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367322.1_Missense_Mutation_p.I90M	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	100					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTTCCGGTGGATGTCCTGTG	0.577													6	124					0	0	0	0	C	201334430	G	C	201334430	3	2	394	1	0	0	0	0	1	0	0	0	16425	1164	41	2	631	2	TNNT2	1	201334430	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2630953	201334430	47916191	38	75326											
IPO9	55705	broad.mit.edu	37	chr1	201845150	201845150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggccaccttaatgacaatGagaggcgagttctacagacc	13	7	10	11	1	1	3	0	2	1	2	1	5	1	3	3	2	1	1	3	2	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:201845150G>C	ENST00000361565.4	+	24	3163	c.3094G>C	c.(3094-3096)Gag>Cag	p.E1032Q		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	1032					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TAATGACAATGAGAGGCGAGT	0.507											OREG0014090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	276					0	0	0	0	C	201845150	G	C	201845150	3	2	394	1	0	0	0	0	1	0	0	0	7852	1291	45	2	3188	2	IPO9	1	201845150	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	510720	201845150	47405471	39	75327											
PIK3C2B	5287	broad.mit.edu	37	chr1	204433259	204433259	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaagtctacagtggaggaAcctgtgaagggtaaggtagg	13	7	16	5	0	1	1	0	1	1	0	1	3	1	3	1	5	3	3	1	5	6	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:204433259A>G	ENST00000367187.3	-	6	1747	c.1189_splice	c.e6-1	p.C397_splice	PIK3C2B_ENST00000424712.2_Splice_Site_p.C397_splice	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	397					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAGTGGAGGAACCTGTGAAGG	0.532													6	114					0	0	0	0	G	204433259	A	G	204433259	5	3	394	1	0	0	0	0	0	0	1	0	11982	57	2	5	3829	5	PIK3C2B	1	204433259	Splice_Site	SNP	A	TCGA-DQ-7594-01A-11D-2229-08	2588109	204433259	44817362	40	75328											
TMCC2	9911	broad.mit.edu	37	chr1	205238143	205238143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgacaccgacggccccatCagcctggacgtgcccgatgg	7	5	14	15	4	1	1	1	1	0	0	1	4	1	2	5	4	2	0	5	4	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:205238143C>T	ENST00000358024.3	+	3	1202	c.813C>T	c.(811-813)atC>atT	p.I271I	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.I46I|TMCC2_ENST00000329800.7_Silent_p.I31I|TMCC2_ENST00000545499.1_Silent_p.I193I	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	271						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGGCCCCATCAGCCTGGACG	0.642													7	87					0	0	0	0	T	205238143	C	T	205238143	2	4	394	1	0	0	0	0	0	0	0	1	16087	816	29	2		2	TMCC2	1	205238143	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	804884	205238143	44012478	41	75329											
CENPF	1063	broad.mit.edu	37	chr1	214820348	214820348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagtcaagtagagtgtcttGaacttgagaaggctcagttg	11	12	13	5	0	3	3	2	2	1	2	3	4	3	3	0	1	1	4	0	1	5	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:214820348G>A	ENST00000366955.3	+	13	7603	c.7435G>A	c.(7435-7437)Gaa>Aaa	p.E2479K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2575	2 X 177 AA tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGTGTCTTGAACTTGAGAA	0.408													17	91					0	0	0	0	A	214820348	G	A	214820348	3	1	394	1	0	0	0	0	1	0	0	0	3260	1291	45	2	7481	2	CENPF	1	214820348	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	9582205	214820348	34430273	42	75330											
USH2A	7399	broad.mit.edu	37	chr1	215914773	215914773	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcaggtggcatccacttAatctctatgcaagctgaccc	9	13	7	12	0	2	1	1	1	1	0	4	1	3	1	2	2	2	3	2	2	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:215914773A>T	ENST00000366943.2	-	60	12041	c.11655T>A	c.(11653-11655)atT>atA	p.I3885I	USH2A_ENST00000307340.3_Silent_p.I3885I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3885	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATCCACTTAATCTCTATGC	0.388										HNSCC(13;0.011)			16	82					0	0	0	0	T	215914773	A	T	215914773	2	4	394	1	0	0	0	0	0	0	0	1	17132	358	13	5		5	USH2A	1	215914773	Silent	SNP	A	TCGA-DQ-7594-01A-11D-2229-08	1094425	215914773	33335848	43	75331											
C1orf101	257044	broad.mit.edu	37	chr1	244716022	244716022	+	Missense_Mutation	SNP	G	G	A																															ttacataaagagttttcgtgGatttataagactgggaggaa																										TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:244716022G>A	ENST00000366534.4	+	9	989	c.935G>A	c.(934-936)gGa>gAa	p.G312E	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.G312E|C1orf101_ENST00000366531.3_Missense_Mutation_p.G161E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	312						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGTTTTCGTGGATTTATAAGA	0.368													8	106					0	0	0	0	A	244716022	G	A	244716022	3	1	394	1	0	0	0	0	1	0	0	0	1995	1174	41	2	969	2	C1orf101	1	244716022	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	28801249	244716022	4534599	44	75332	1016	2									
C1orf101	257044	broad.mit.edu	37	chr1	244716031	244716031	+	Missense_Mutation	SNP	G	G	C																															gagttttcgtggatttataaGactgggaggaattgtaaatc																										TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:244716031G>C	ENST00000366534.4	+	9	998	c.944G>C	c.(943-945)aGa>aCa	p.R315T	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.R315T|C1orf101_ENST00000366531.3_Missense_Mutation_p.R164T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	315						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GGATTTATAAGACTGGGAGGA	0.353													9	102					0	0	0	0	C	244716031	G	C	244716031	3	2	394	1	0	0	0	0	1	0	0	0	1995	942	33	2	978	2	C1orf101	1	244716031	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	9	244716031	4534590	45	75333	1016	2									
ZNF124	7678	broad.mit.edu	37	chr1	247319999	247319999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctccagtatgagtcctttCatggtcacgaagggaactgg	9	11	11	10	1	3	1	2	1	1	0	5	3	4	2	2	3	1	1	2	3	3	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:247319999C>G	ENST00000340684.6	-	4	877	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	ZNF124_ENST00000543802.2_Missense_Mutation_p.E309Q|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGAGTCCTTTCATGGTCACGA	0.413													5	77					0	0	0	0	G	247319999	C	G	247319999	3	3	394	1	0	0	0	0	1	0	0	0	17815	835	29	2	134	2	ZNF124	1	247319999	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2603968	247319999	1930622	46	75334											
TAF1B	9014	broad.mit.edu	37	chr2	10008539	10008539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcgaaaacctttccccgtCagcaaagcatcacaatcagg	14	7	6	14	2	3	0	3	0	0	0	5	1	4	0	3	1	3	2	3	1	4	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:10008539C>T	ENST00000263663.5	+	6	722	c.534C>T	c.(532-534)gtC>gtT	p.V178V	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	178					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTTCCCCGTCAGCAAAGCAT	0.413													9	36					0	0	0	0	T	10008539	C	T	10008539	2	4	394	1	0	0	0	0	0	0	0	1	15611	813	29	2		2	TAF1B	2	10008539	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		10008539	233190834	47	75335											
NOL10	79954	broad.mit.edu	37	chr2	10729399	10729399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcacttggttttccttcCggctcttcctcctcttcctg	2	17	6	16	1	3	0	1	0	2	0	8	0	8	0	5	2	0	3	5	2	0	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:10729399C>T	ENST00000345985.3	-	18	1574	c.1464G>A	c.(1462-1464)ccG>ccA	p.P488P	AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Silent_p.P488P|NOL10_ENST00000381685.5_Silent_p.P538P|NOL10_ENST00000538384.1_Silent_p.P512P	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	538						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTTTTCCTTCCGGCTCTTCCT	0.502													12	55					0	0	0	0	T	10729399	C	T	10729399	2	4	394	1	0	0	0	0	0	0	0	1	10590	639	23	1		1	NOL10	2	10729399	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	720860	10729399	232469974	48	75336											
ADCY3	109	broad.mit.edu	37	chr2	25042928	25042928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcacaaagatggggcctCgcctcacaaagcggaagccg	11	5	11	14	3	2	1	2	0	0	1	3	2	2	2	4	3	2	0	4	3	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:25042928C>T	ENST00000260600.5	-	21	4159	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q	CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.R690Q|CENPO_ENST00000380834.2_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1103					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GATGGGGCCTCGCCTCACAAA	0.602													12	36					0	0	0	0	T	25042928	C	T	25042928	3	4	394	1	0	0	0	0	1	0	0	0	295	884	31	1	130	1	ADCY3	2	25042928	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	14313529	25042928	218156445	49	75337											
GCKR	2646	broad.mit.edu	37	chr2	27720441	27720441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctacagagactctacagcGaatccattctgaccaccatg	12	8	6	15	1	2	2	0	1	2	1	3	4	3	2	4	0	3	0	4	0	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:27720441G>A	ENST00000264717.2	+	3	292	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	77			E -> G (in dbSNP:rs8179206).		carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACTCTACAGCGAATCCATTCT	0.493													8	53					0	0	0	0	A	27720441	G	A	27720441	3	1	394	1	0	0	0	0	1	0	0	0	6343	1059	37	1	239	1	GCKR	2	27720441	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2677513	27720441	215478932	50	75338											
BIRC6	57448	broad.mit.edu	37	chr2	32820175	32820175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtattaaagtcacttgaaGaaaaatatgtggctgttatg	15	13	9	4	0	1	2	1	1	0	1	1	2	1	2	0	1	0	3	0	1	8	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:32820175G>A	ENST00000421745.2	+	68	13710	c.13576G>A	c.(13576-13578)Gaa>Aaa	p.E4526K		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4526					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)					GTCACTTGAAGAAAAATATGT	0.299													4	27					0	0	0	0	A	32820175	G	A	32820175	3	1	394	1	0	0	0	0	1	0	0	0	1443	943	33	2	13846	2	BIRC6	2	32820175	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	5099734	32820175	210379198	51	75339											
SLC1A4	6509	broad.mit.edu	37	chr2	65248227	65248227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacacaccagaaccccGctggccccgtggccagtgcc	7	5	12	17	2	0	2	0	1	0	1	0	2	0	2	7	3	2	1	7	3	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:65248227G>A	ENST00000234256.3	+	8	1789	c.1546G>A	c.(1546-1548)Gct>Act	p.A516T	SLC1A4_ENST00000531327.1_Missense_Mutation_p.A218T	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	516					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCAGAACCCCGCTGGCCCCGT	0.602													26	67					0	0	0	0	A	65248227	G	A	65248227	3	1	394	1	0	0	0	0	1	0	0	0	14522	1087	38	1	1576	1	SLC1A4	2	65248227	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	32428052	65248227	177951146	52	75340											
EXOC6B	23233	broad.mit.edu	37	chr2	72406524	72406524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacggtgtcaatgagtttCtgcttgtctcgctcattttt	5	17	9	10	2	4	1	2	1	2	0	5	1	4	1	1	1	1	3	1	1	1	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:72406524C>T	ENST00000272427.6	-	22	2506	c.2376G>A	c.(2374-2376)caG>caA	p.Q792Q	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	792					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CAATGAGTTTCTGCTTGTCTC	0.522													8	24					0	0	0	0	T	72406524	C	T	72406524	2	4	394	1	0	0	0	0	0	0	0	1	5346	912	32	2		2	EXOC6B	2	72406524	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	7158297	72406524	170792849	53	75341											
LBX2	85474	broad.mit.edu	37	chr2	74729884	74729884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgccaccctcccgggcgtgCgggccgggaagcagccagcg	5	2	16	18	6	0	0	0	0	0	0	1	1	1	1	6	3	4	1	6	3	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:74729884C>T	ENST00000460508.3	-	1	559	c.103G>A	c.(103-105)Gca>Aca	p.A35T	LBX2_ENST00000550249.1_Intron|LBX2_ENST00000341396.2_Intron|LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CCCGGGCGTGCGGGCCGGGAA	0.627													4	96					0	0	0	0	T	74729884	C	T	74729884	3	4	394	1	0	0	0	0	1	0	0	0	8707	768	27	1	489	1	LBX2	2	74729884	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2323360	74729884	168469489	54	75342											
LOXL3	84695	broad.mit.edu	37	chr2	74763958	74763958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggcggtgtcattggcacGatagaactccagggaacaga	11	7	13	10	2	1	2	1	0	0	2	2	4	2	3	2	4	2	1	2	4	3	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:74763958G>A	ENST00000264094.3	-	5	861	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	LOXL3_ENST00000409549.1_Missense_Mutation_p.R264C|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.R264C	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	264	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCATTGGCACGATAGAACTCC	0.642													23	89					0	0	0	0	A	74763958	G	A	74763958	3	1	394	1	0	0	0	0	1	0	0	0	8965	1058	37	1	1511	1	LOXL3	2	74763958	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	34074	74763958	168435415	55	75343											
LRRTM1	347730	broad.mit.edu	37	chr2	80529604	80529604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaaacacttccaggacacGtagagcaccaggaccacgat	14	4	11	12	2	0	1	0	0	0	1	1	5	1	4	3	3	2	2	3	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:80529604G>A	ENST00000295057.3	-	2	1997	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.Y447Y|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	447						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				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						TCCAGGACACGTAGAGCACCA	0.592										HNSCC(69;0.2)			12	54					0	0	0	0	A	80529604	G	A	80529604	2	1	394	1	0	0	0	0	0	0	0	1	9103	1140	40	1		1	LRRTM1	2	80529604	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	5765646	80529604	162669769	56	75344											
FER1L5	90342	broad.mit.edu	37	chr2	97370084	97370084	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacttatgctgtttaacttCatctattcagctccggtgag	8	15	8	10	1	3	1	2	1	1	0	4	1	4	1	1	1	3	4	1	1	3	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:97370084C>G	ENST00000457909.1	+	0	5437							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGTTTAACTTCATCTATTCAG	0.478													8	166					0	0	0	0	G	97370084	C	G	97370084	1	3	394	0	1	0	0	0	0	0	0	0	5859	825	29	2		2	FER1L5	2	97370084	RNA	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	16840480	97370084	145829289	57	75345											
SH3RF3	344558	broad.mit.edu	37	chr2	110259223	110259223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgcacaggcctcttccCgggcagcttcgtcgagagct	5	7	13	16	5	1	1	0	0	1	1	4	2	2	1	3	3	2	4	3	3	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:110259223C>A	ENST00000309415.6	+	10	2624	c.2624C>A	c.(2623-2625)cCg>cAg	p.P875Q		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	875	SH3 4.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGCCTCTTCCCGGGCAGCTTC	0.637													4	7					0.000602214	0.000615778	1	0	A	110259223	C	A	110259223	3	1	394	1	0	0	0	0	1	0	0	0	14348	652	23	3	2326	3	SH3RF3	2	110259223	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	12889139	110259223	132940150	58	75346											
TUBA3E	112714	broad.mit.edu	37	chr2	130951512	130951512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagggtcacacttgaccatCtgattggctggctcgaagca	9	9	12	11	2	2	2	1	2	1	0	3	4	2	2	1	3	1	3	1	3	1	2	rs146523442		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:130951512C>G	ENST00000312988.7	-	4	1003	c.903G>C	c.(901-903)caG>caC	p.Q301H		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	301					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACTTGACCATCTGATTGGCTG	0.602													9	190					0	0	0	0	G	130951512	C	G	130951512	3	3	394	1	0	0	0	0	1	0	0	0	16844	912	32	2	457	2	TUBA3E	2	130951512	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	20692289	130951512	112247861	59	75347											
MBD5	55777	broad.mit.edu	37	chr2	149227000	149227000	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtcaccaaggtcaacAatagggtccccaaggccatc	12	5	9	15	0	2	0	2	0	0	0	4	0	3	0	5	4	1	0	5	4	5	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:149227000A>T	ENST00000407073.1	+	9	2485	c.1488A>T	c.(1486-1488)acA>acT	p.T496T	MBD5_ENST00000404807.1_Silent_p.T496T	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	496						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAAGGTCAACAATAGGGTCCC	0.473													6	58					0	0	0	0	T	149227000	A	T	149227000	2	4	394	1	0	0	0	0	0	0	0	1	9416	117	5	5		5	MBD5	2	149227000	Silent	SNP	A	TCGA-DQ-7594-01A-11D-2229-08	18275488	149227000	93972373	60	75348											
CYTIP	9595	broad.mit.edu	37	chr2	158272425	158272425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggggataaagcactcatCatctgtactcgtctgccgac	9	11	9	12	2	4	0	2	0	2	0	5	2	4	1	1	2	3	2	1	2	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:158272425C>T	ENST00000264192.3	-	8	965	c.844G>A	c.(844-846)Gat>Aat	p.D282N	CYTIP_ENST00000540637.1_Missense_Mutation_p.D176N	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	282	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AAGCACTCATCATCTGTACTC	0.547													11	48					0	0	0	0	T	158272425	C	T	158272425	3	4	394	1	0	0	0	0	1	0	0	0	4239	826	29	2	239	2	CYTIP	2	158272425	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	9045425	158272425	84926948	61	75349											
BAZ2B	29994	broad.mit.edu	37	chr2	160194081	160194081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctcttcagataccttCtttcaatgttccgctccaaa	9	13	7	12	1	4	1	2	0	2	1	6	1	6	1	3	2	1	3	3	2	3	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:160194081C>A	ENST00000392783.2	-	32	6152	c.5657G>T	c.(5656-5658)aGa>aTa	p.R1886I	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1786I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1852I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1850I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1886					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAGATACCTTCTTTCAATGTT	0.493													9	107					2.17888e-05	2.25847e-05	1	0	A	160194081	C	A	160194081	3	1	394	1	0	0	0	0	1	0	0	0	1336	913	32	2	873	2	BAZ2B	2	160194081	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1921656	160194081	83005292	62	75350											
PLA2R1	22925	broad.mit.edu	37	chr2	160869837	160869837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaagcttggtcaaagcttCgaaggactgtgtcaattttg	10	13	12	6	1	2	0	2	0	0	0	3	3	2	2	0	3	2	2	0	3	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:160869837C>T	ENST00000283243.7	-	10	1807	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R534Q	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	534	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTCAAAGCTTCGAAGGACTGT	0.363													10	49					0	0	0	0	T	160869837	C	T	160869837	3	4	394	1	0	0	0	0	1	0	0	0	12082	884	31	1	2882	1	PLA2R1	2	160869837	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	675756	160869837	82329536	63	75351											
LRP2	4036	broad.mit.edu	37	chr2	170096085	170096085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaacatgtagcctgtatCacacgagcaccggaaagaac	14	8	8	11	2	2	1	1	0	1	1	2	3	2	2	2	1	4	3	2	1	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:170096085C>T	ENST00000263816.3	-	26	4531	c.4246G>A	c.(4246-4248)Gat>Aat	p.D1416N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1416	EGF-like 6; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGCCTGTATCACACGAGCAC	0.428													5	71					0	0	0	0	T	170096085	C	T	170096085	3	4	394	1	0	0	0	0	1	0	0	0	9020	826	29	2	9937	2	LRP2	2	170096085	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	9226248	170096085	73103288	64	75352											
LRP2	4036	broad.mit.edu	37	chr2	170175357	170175357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgcattgtccctcactCtggcacttgaaatagccctg	8	11	10	12	0	2	1	1	1	1	0	3	2	3	2	2	2	2	2	2	2	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:170175357C>T	ENST00000263816.3	-	3	510	c.225G>A	c.(223-225)caG>caA	p.Q75Q	LRP2_ENST00000443831.1_Silent_p.Q75Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	75	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCCCTCACTCTGGCACTTGA	0.463													4	58					0	0	0	0	T	170175357	C	T	170175357	2	4	394	1	0	0	0	0	0	0	0	1	9020	912	32	2		2	LRP2	2	170175357	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	79272	170175357	73024016	65	75353											
GORASP2	26003	broad.mit.edu	37	chr2	171806194	171806194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcggccagggcttattggGagtgagcattcgtttctgca	6	11	16	8	2	1	1	0	1	1	0	2	2	1	2	1	4	2	4	1	4	1	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:171806194G>A	ENST00000234160.4	+	3	1105	c.290G>A	c.(289-291)gGa>gAa	p.G97E	GORASP2_ENST00000452526.2_Missense_Mutation_p.G109E|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	97						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGCTTATTGGGAGTGAGCATT	0.468													8	162					0	0	0	0	A	171806194	G	A	171806194	3	1	394	1	0	0	0	0	1	0	0	0	6624	1174	41	2	300	2	GORASP2	2	171806194	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1630837	171806194	71393179	66	75354											
TTN	7273	broad.mit.edu	37	chr2	179399560	179399560	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatgactgtgtaaaaactGaagtgcttcacagacctggt	13	12	9	7	0	1	3	1	2	0	1	1	3	1	3	1	1	2	2	1	1	5	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:179399560G>A	ENST00000589042.1	-	358	102006	c.101782C>T	c.(101782-101784)Cag>Tag	p.Q33928*	TTN_ENST00000342992.6_Nonsense_Mutation_p.Q31360*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q24988*|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q32287*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q25055*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q24863*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32287							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAAAAACTGAAGTGCTTCA	0.333													9	57					0	0	0	0	A	179399560	G	A	179399560	4	1	394	1	0	0	0	0	0	1	0	0	16831	1299	45	2	6217	2	TTN	2	179399560	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	7593366	179399560	63799813	67	75355											
TTN	7273	broad.mit.edu	37	chr2	179427038	179427038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatcacttcttcccttttCgttaactgcagctaccctga	7	15	6	13	1	2	1	1	1	1	0	4	2	3	2	2	1	4	3	2	1	2	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:179427038C>T	ENST00000589042.1	-	326	84045	c.83821G>A	c.(83821-83823)Gaa>Aaa	p.E27941K	TTN_ENST00000342992.6_Missense_Mutation_p.E25373K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19001K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26300K|TTN_ENST00000342175.6_Missense_Mutation_p.E19068K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18876K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26300	Fibronectin type-III 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCCTTTTCGTTAACTGCA	0.418													4	58					0	0	0	0	T	179427038	C	T	179427038	3	4	394	1	0	0	0	0	1	0	0	0	16831	893	31	1	24306	1	TTN	2	179427038	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	27478	179427038	63772335	68	75356											
TTN	7273	broad.mit.edu	37	chr2	179499108	179499108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacctgtgacaaacaaccGagctgaggtcttcttgccct	9	11	8	13	1	2	2	0	2	2	0	2	3	2	2	3	1	5	1	3	1	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:179499108G>A	ENST00000589042.1	-	230	42624	c.42400C>T	c.(42400-42402)Cgg>Tgg	p.R14134W	TTN_ENST00000342992.6_Missense_Mutation_p.R11566W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5194W|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R12493W|TTN_ENST00000342175.6_Missense_Mutation_p.R5261W|TTN_ENST00000460472.2_Missense_Mutation_p.R5069W|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12493	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAACAACCGAGCTGAGGTC	0.408													13	32					0	0	0	0	A	179499108	G	A	179499108	3	1	394	1	0	0	0	0	1	0	0	0	16831	1057	37	1	65825	1	TTN	2	179499108	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	72070	179499108	63700265	69	75357											
CCDC141	285025	broad.mit.edu	37	chr2	179734020	179734020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcataatgtactgaacctCatcattcaattgctaaaaca	15	14	3	9	0	4	1	4	1	0	0	4	1	4	1	1	0	4	2	1	0	6	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:179734020C>T	ENST00000420890.2	-	15	2335	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E165K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	165							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TACTGAACCTCATCATTCAAT	0.328													3	20					0	0	0	0	T	179734020	C	T	179734020	3	4	394	1	0	0	0	0	1	0	0	0	2800	835	29	2	2170	2	CCDC141	2	179734020	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	234912	179734020	63465353	70	75358											
ITGA4	3676	broad.mit.edu	37	chr2	182360613	182360613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggccttctgtgtgcataGatctaacactttgtttctca	8	16	8	9	0	3	1	1	0	3	1	4	2	3	1	1	1	2	2	1	1	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:182360613G>C	ENST00000397033.2	+	14	1919	c.1489G>C	c.(1489-1491)Gat>Cat	p.D497H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	497					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTGTGCATAGATCTAACACT	0.408													10	100					0	0	0	0	C	182360613	G	C	182360613	3	2	394	1	0	0	0	0	1	0	0	0	7931	942	33	2	1543	2	ITGA4	2	182360613	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2626593	182360613	60838760	71	75359											
PDE1A	5136	broad.mit.edu	37	chr2	183129093	183129093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatattcttctttaagtcGacgacgttaacatcacctct	11	15	4	11	3	5	0	2	0	3	0	6	2	5	0	1	0	1	1	1	0	4	6	rs148985621		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:183129093G>A	ENST00000435564.1	-	2	350	c.150C>T	c.(148-150)gtC>gtT	p.V50V	PDE1A_ENST00000456212.1_Silent_p.V50V|PDE1A_ENST00000351439.5_Silent_p.V34V|PDE1A_ENST00000410103.1_Silent_p.V50V|PDE1A_ENST00000358139.2_Silent_p.V50V|PDE1A_ENST00000331935.6_Silent_p.V50V|PDE1A_ENST00000409365.1_Silent_p.V34V|PDE1A_ENST00000536095.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	50					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTTTAAGTCGACGACGTTAA	0.363													5	97					0	0	0	0	A	183129093	G	A	183129093	2	1	394	1	0	0	0	0	0	0	0	1	11704	1045	37	1		1	PDE1A	2	183129093	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	768480	183129093	60070280	72	75360											
COL3A1	1281	broad.mit.edu	37	chr2	189875513	189875513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atacatggatcaggccagtgGaaatgtaaagaaggccctga	15	7	12	7	0	1	2	1	1	0	1	1	4	1	4	2	4	1	1	2	4	5	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:189875513G>C	ENST00000304636.3	+	50	4321	c.4151G>C	c.(4150-4152)gGa>gCa	p.G1384A	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1081A	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1384	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CAGGCCAGTGGAAATGTAAAG	0.463													5	70					0	0	0	0	C	189875513	G	C	189875513	3	2	394	1	0	0	0	0	1	0	0	0	3718	1174	41	2	4349	2	COL3A1	2	189875513	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	6746420	189875513	53323860	73	75361											
SDPR	8436	broad.mit.edu	37	chr2	192700958	192700958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcctggtcatttggcatCtgctcactgctaggcaggtc	5	14	10	12	0	4	0	2	0	2	0	6	0	5	0	1	4	2	4	1	4	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:192700958C>T	ENST00000304141.4	-	2	1298	c.969G>A	c.(967-969)caG>caA	p.Q323Q		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	323						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CATTTGGCATCTGCTCACTGC	0.552													22	88					0	0	0	0	T	192700958	C	T	192700958	2	4	394	1	0	0	0	0	0	0	0	1	14057	912	32	2		2	SDPR	2	192700958	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2825445	192700958	50498415	74	75362											
FZD7	8324	broad.mit.edu	37	chr2	202900720	202900720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgtgtccctcttccgtatCcgcaccatcatgaaacacga	9	11	6	15	4	2	1	1	1	1	0	6	2	5	1	4	0	1	2	4	0	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:202900720C>T	ENST00000286201.1	+	1	1411	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	450					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCTTCCGTATCCGCACCATCA	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	89					0	0	0	0	T	202900720	C	T	202900720	2	4	394	1	0	0	0	0	0	0	0	1	6183	845	30	2		2	FZD7	2	202900720	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	10199762	202900720	40298653	75	75363											
IGFBP2	3485	broad.mit.edu	37	chr2	217528728	217528728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccccaacaccgggaagctGatccagggagcccccaccat	12	3	9	17	1	0	1	0	1	0	0	1	3	1	3	7	2	4	1	7	2	3	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:217528728G>A	ENST00000233809.4	+	4	1008	c.879G>A	c.(877-879)ctG>ctA	p.L293L	IGFBP2_ENST00000456764.1_Silent_p.L149L	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	293	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCGGGAAGCTGATCCAGGGAG	0.632													6	20					0	0	0	0	A	217528728	G	A	217528728	2	1	394	1	0	0	0	0	0	0	0	1	7632	1277	45	2		2	IGFBP2	2	217528728	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	14628008	217528728	25670645	76	75364											
IRS1	3667	broad.mit.edu	37	chr2	227662077	227662077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatatagttgcttagctcctCctcaccgcgggctggtgggg	5	11	14	11	2	1	0	1	0	0	0	3	1	3	0	3	4	2	4	3	4	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:227662077C>T	ENST00000305123.4	-	1	2398	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	460					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTTAGCTCCTCCTCACCGCGG	0.622											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	92					0	0	0	0	T	227662077	C	T	227662077	3	4	394	1	0	0	0	0	1	0	0	0	7893	864	30	2	2354	2	IRS1	2	227662077	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	10133349	227662077	15537296	77	75365											
DUSP28	285193	broad.mit.edu	37	chr2	241500876	241500876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccttagggttgggccctGaggcttgaagcttgaaggcc	7	9	15	10	0	0	3	0	3	0	0	0	3	0	3	3	4	2	3	3	4	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:241500876G>C	ENST00000405954.1	+	2	906	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	DUSP28_ENST00000343217.2_Missense_Mutation_p.E175Q			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	175							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		GTTGGGCCCTGAGGCTTGAAG	0.587													3	20					0	0	0	0	C	241500876	G	C	241500876	3	2	394	1	0	0	0	0	1	0	0	0	4861	1291	45	2	529	2	DUSP28	2	241500876	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	13838799	241500876	1698497	78	75366											
ARPC4	10093	broad.mit.edu	37	chr3	9839366	9839366	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccactctccgcccctacctGagtgccgtgcgggccacatt	5	8	10	18	3	1	1	0	1	1	0	2	1	1	1	7	1	3	0	7	1	1	2	rs148937119	by1000genomes	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:9839366G>C	ENST00000397261.3	+	2	591	c.27G>C	c.(25-27)ctG>ctC	p.L9L	ARPC4_ENST00000498623.2_5'UTR|ARPC4_ENST00000287613.7_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.L9L|ARPC4_ENST00000433034.1_Silent_p.L28L	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					GCCCCTACCTGAGTGCCGTGC	0.562													4	83					0	0	0	0	C	9839366	G	C	9839366	2	2	394	1	0	0	0	0	0	0	0	1	977	1277	45	2		2	ARPC4	3	9839366	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		9839366	188183064	79	75367											
ZFYVE20	64145	broad.mit.edu	37	chr3	15119601	15119601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttaaagcgtctatcagctCatacactttctgcacttcca	10	13	4	14	1	4	0	2	0	2	0	5	0	5	0	2	0	4	2	2	0	4	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:15119601C>G	ENST00000253699.3	-	11	1592	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E327Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	327	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCTATCAGCTCATACACTTTC	0.488													4	45					0	0	0	0	G	15119601	C	G	15119601	3	3	394	1	0	0	0	0	1	0	0	0	17761	835	29	2	1391	2	ZFYVE20	3	15119601	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5280235	15119601	182902829	80	75368											
ULK4	54986	broad.mit.edu	37	chr3	41953048	41953048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacctagtctgaaagagtGacctagtggttgaccactct	10	12	9	10	0	2	4	0	3	2	1	2	4	2	4	3	1	1	1	3	1	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:41953048G>A	ENST00000301831.4	-	10	1462	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	ULK4_ENST00000420927.1_Missense_Mutation_p.H334Y	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	334							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTGAAAGAGTGACCTAGTGGT	0.403													5	74					0	0	0	0	A	41953048	G	A	41953048	3	1	394	1	0	0	0	0	1	0	0	0	17074	1290	45	2	2939	2	ULK4	3	41953048	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	26833447	41953048	156069382	81	75369											
SCAP	22937	broad.mit.edu	37	chr3	47456103	47456103	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggcccctgagtggccctGaagggtgaagaggcagcacg	9	5	17	10	1	0	4	0	3	0	1	0	5	0	4	3	4	1	2	3	4	2	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:47456103G>A	ENST00000265565.5	-	21	3758	c.3346C>T	c.(3346-3348)Cag>Tag	p.Q1116*	SCAP_ENST00000441517.2_Nonsense_Mutation_p.Q860*|SCAP_ENST00000545718.1_Nonsense_Mutation_p.Q723*	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1116	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGTGGCCCTGAAGGGTGAAG	0.582													4	66					0	0	0	0	A	47456103	G	A	47456103	4	1	394	1	0	0	0	0	0	1	0	0	13963	1299	45	2	505	2	SCAP	3	47456103	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	5503055	47456103	150566327	82	75370											
CADPS	8618	broad.mit.edu	37	chr3	62522214	62522214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagttacaggggttggaaGagataaattcatccatgcca	15	9	10	7	0	1	1	1	0	0	1	2	3	2	2	2	3	2	2	2	3	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:62522214G>A	ENST00000383710.4	-	12	2358	c.2009C>T	c.(2008-2010)tCt>tTt	p.S670F	CADPS_ENST00000357948.3_Missense_Mutation_p.S670F|CADPS_ENST00000283269.9_Missense_Mutation_p.S670F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	670					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGGTTGGAAGAGATAAATTC	0.398													17	110					0	0	0	0	A	62522214	G	A	62522214	3	1	394	1	0	0	0	0	1	0	0	0	2595	942	33	2	2201	2	CADPS	3	62522214	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	15066111	62522214	135500216	83	75371											
CD96	10225	broad.mit.edu	37	chr3	111297947	111297947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccacattacttaaagataGagtcaagcttggtacagact	14	12	7	8	0	1	3	1	0	0	3	2	3	2	3	1	1	3	2	1	1	6	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:111297947G>C	ENST00000352690.4	+	4	857	c.617G>C	c.(616-618)aGa>aCa	p.R206T	CD96_ENST00000438817.2_Missense_Mutation_p.R206T|CD96_ENST00000283285.5_Missense_Mutation_p.R222T	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	222	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTAAAGATAGAGTCAAGCTT	0.423									Opitz Trigonocephaly syndrome				12	85					0	0	0	0	C	111297947	G	C	111297947	3	2	394	1	0	0	0	0	1	0	0	0	3077	942	33	2	683	2	CD96	3	111297947	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	48775733	111297947	86724483	84	75372											
CD200R1L	344807	broad.mit.edu	37	chr3	112546358	112546358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagacccaggttattctctCaacagtacagttggtttcct	10	13	8	10	0	2	1	1	0	1	1	4	2	3	1	2	2	2	4	2	2	3	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:112546358C>T	ENST00000488794.1	-	5	812	c.223G>A	c.(223-225)Gag>Aag	p.E75K	CD200R1L_ENST00000398214.1_Missense_Mutation_p.E96K|CD200R1L_ENST00000448932.1_Missense_Mutation_p.E75K			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	96	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GTTATTCTCTCAACAGTACAG	0.453													20	74					0	0	0	0	T	112546358	C	T	112546358	3	4	394	1	0	0	0	0	1	0	0	0	3011	835	29	2	545	2	CD200R1L	3	112546358	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1248411	112546358	85476072	85	75373											
UROC1	131669	broad.mit.edu	37	chr3	126226625	126226625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctcatactccgtccGggaggagtagttgggaatga	9	10	14	8	2	1	1	1	1	1	0	4	5	3	4	2	3	2	3	2	3	3	4	rs34488036	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:126226625G>A	ENST00000290868.2	-	6	615	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	UROC1_ENST00000383579.3_Missense_Mutation_p.R188W	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	188			R -> W (in dbSNP:rs34488036).		histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TACTCCGTCCGGGAGGAGTAG	0.542													21	107					0	0	0	0	A	126226625	G	A	126226625	3	1	394	1	0	0	0	0	1	0	0	0	17124	1115	39	1	1712	1	UROC1	3	126226625	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	13680267	126226625	71795805	86	75374											
PLXNA1	5361	broad.mit.edu	37	chr3	126735800	126735800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagcggtgggaccctcCtgacggtcacaggcaccaac	8	6	12	15	2	1	1	1	1	0	0	3	2	3	2	4	4	2	2	4	4	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:126735800C>T	ENST00000393409.2	+	16	3196	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	PLXNA1_ENST00000251772.4_Silent_p.L1043L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1066	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGGACCCTCCTGACGGTCAC	0.632													7	51					0	0	0	0	T	126735800	C	T	126735800	2	4	394	1	0	0	0	0	0	0	0	1	12191	680	24	4		4	PLXNA1	3	126735800	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	509175	126735800	71286630	87	75375											
ISY1	57461	broad.mit.edu	37	chr3	128853674	128853674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaaatgcccagagacctaCgtttcttttcatattcctgt	11	15	5	10	1	2	1	1	0	1	1	3	2	3	1	3	0	2	1	3	0	4	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:128853674C>T	ENST00000393292.3	-	8	603	c.542G>A	c.(541-543)cGt>cAt	p.R181H	ISY1-RAB43_ENST00000418265.1_Splice_Site|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Splice_Site|ISY1_ENST00000393295.3_Splice_Site					ISY1 splicing factor homolog (S. cerevisiae)											endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CAGAGACCTACGTTTCTTTTC	0.388													8	100					0	0	0	0	T	128853674	C	T	128853674	3	4	394	1	0	0	0	0	1	0	0	0	7919	550	19	1	331	1	ISY1	3	128853674	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2117874	128853674	69168756	88	75376											
CNBP	7555	broad.mit.edu	37	chr3	128890588	128890588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtccacacttgaagcactCattgctgctcatggctgcag	8	11	9	13	1	2	1	2	1	0	0	4	1	3	1	1	1	4	5	1	1	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:128890588C>T	ENST00000422453.2	-	2	173	c.13G>A	c.(13-15)Gag>Aag	p.E5K	CNBP_ENST00000500450.2_Missense_Mutation_p.E5K|CNBP_ENST00000451728.2_Missense_Mutation_p.E5K|CNBP_ENST00000504813.1_Missense_Mutation_p.E5K|CNBP_ENST00000446936.2_Missense_Mutation_p.E5K|CNBP_ENST00000441626.2_Missense_Mutation_p.E5K|CNBP_ENST00000502976.1_Missense_Mutation_p.E5K	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	5					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TTGAAGCACTCATTGCTGCTC	0.443													8	46					0	0	0	0	T	128890588	C	T	128890588	3	4	394	1	0	0	0	0	1	0	0	0	3622	835	29	2	542	2	CNBP	3	128890588	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	36914	128890588	69131842	89	75377											
ZIC1	7545	broad.mit.edu	37	chr3	147131221	147131221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctccacgcctcccaccatCgtgtctccctccacagacaa	8	8	4	21	2	1	1	0	0	1	1	7	1	5	1	7	0	0	0	7	0	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:147131221C>T	ENST00000282928.4	+	3	1956	c.1227C>T	c.(1225-1227)atC>atT	p.I409I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	409	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCCCACCATCGTGTCTCCCT	0.617													17	104					0	0	0	0	T	147131221	C	T	147131221	2	4	394	1	0	0	0	0	0	0	0	1	17773	874	31	1		1	ZIC1	3	147131221	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	18240633	147131221	50891209	90	75378											
P2RY13	53829	broad.mit.edu	37	chr3	151045839	151045839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttggcttgatgctgtggtCtttctcccttgcatacatgg	4	17	10	10	0	3	1	0	1	3	0	4	1	3	1	1	3	3	3	1	3	1	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:151045839C>T	ENST00000325602.5	-	2	1024	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	335						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATGCTGTGGTCTTTCTCCCTT	0.363													23	128					0	0	0	0	T	151045839	C	T	151045839	2	4	394	1	0	0	0	0	0	0	0	1	11421	912	32	2		2	P2RY13	3	151045839	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3914618	151045839	46976591	91	75379											
IGSF10	285313	broad.mit.edu	37	chr3	151166727	151166727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcacgatgtagtcattttCttcagtgaatgcaatgggtg	10	14	11	6	1	3	1	2	1	1	0	3	2	3	1	0	1	2	3	0	1	4	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:151166727C>T	ENST00000282466.3	-	4	1041	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	348					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGTCATTTTCTTCAGTGAAT	0.398													16	99					0	0	0	0	T	151166727	C	T	151166727	3	4	394	1	0	0	0	0	1	0	0	0	7650	922	32	2	6889	2	IGSF10	3	151166727	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	120888	151166727	46855703	92	75380											
ZBBX	79740	broad.mit.edu	37	chr3	167039993	167039993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttctctccaaattttcaGattagtctgtacttcgcatt	8	18	6	9	1	3	1	1	0	2	1	6	1	4	1	1	1	1	3	1	1	3	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:167039993G>A	ENST00000392766.2	-	12	1235	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	ZBBX_ENST00000392764.1_Silent_p.L270L|ZBBX_ENST00000307529.5_Silent_p.L299L|ZBBX_ENST00000392767.2_Silent_p.L299L|ZBBX_ENST00000455345.2_Silent_p.L299L|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	299						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAAATTTTCAGATTAGTCTGT	0.284													6	40					0	0	0	0	A	167039993	G	A	167039993	2	1	394	1	0	0	0	0	0	0	0	1	17612	933	33	2		2	ZBBX	3	167039993	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	15873266	167039993	30982437	93	75381											
SERPINI1	5274	broad.mit.edu	37	chr3	167508227	167508227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagagccaatatgtgatGaaaattgccaattccttgtt	15	12	8	6	0	0	3	0	2	0	1	1	4	1	3	3	0	2	1	3	0	6	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:167508227G>A	ENST00000295777.5	+	3	749	c.318G>A	c.(316-318)atG>atA	p.M106I	SERPINI1_ENST00000446050.2_Missense_Mutation_p.M106I	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	106					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AATATGTGATGAAAATTGCCA	0.323													12	65					0	0	0	0	A	167508227	G	A	167508227	3	1	394	1	0	0	0	0	1	0	0	0	14205	1290	45	2	324	2	SERPINI1	3	167508227	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	468234	167508227	30514203	94	75382											
FNDC3B	64778	broad.mit.edu	37	chr3	172096115	172096115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaggtccagagactgacgGaattcacatgctactccttc	12	9	8	12	1	1	2	1	1	0	1	4	4	3	3	2	2	2	1	2	2	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:172096115G>A	ENST00000336824.4	+	24	3163	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E1022K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E1022K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1022	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GAGACTGACGGAATTCACATG	0.488													8	55					0	0	0	0	A	172096115	G	A	172096115	3	1	394	1	0	0	0	0	1	0	0	0	6015	1175	41	2	3154	2	FNDC3B	3	172096115	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	4587888	172096115	25926315	95	75383											
MASP1	5648	broad.mit.edu	37	chr3	186969535	186969535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctgtagctctgggcactCatttcctggtgaggagcaaa	9	10	13	9	0	2	1	1	1	1	0	3	2	3	2	1	4	2	5	1	4	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:186969535C>G	ENST00000337774.5	-	7	1287	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	MASP1_ENST00000392472.2_Missense_Mutation_p.E187Q|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.E274Q|MASP1_ENST00000296280.6_Missense_Mutation_p.E300Q|MASP1_ENST00000169293.6_Missense_Mutation_p.E300Q	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	300	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTGGGCACTCATTTCCTGGT	0.493													7	97					0	0	0	0	G	186969535	C	G	186969535	3	3	394	1	0	0	0	0	1	0	0	0	9391	835	29	2	2186	2	MASP1	3	186969535	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	14873420	186969535	11052895	96	75384											
MUC4	4585	broad.mit.edu	37	chr3	195517437	195517437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagggtgttgagggtgttGatttgagatactctggtggt	6	15	18	2	0	1	4	0	4	1	1	1	5	1	4	0	4	1	2	0	4	1	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:195517437G>A	ENST00000463781.3	-	2	1473	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	MUC4_ENST00000475231.1_Silent_p.I338I|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	343					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGGTGTTGATTTGAGATA	0.458													48	236					0	0	0	0	A	195517437	G	A	195517437	2	1	394	1	0	0	0	0	0	0	0	1	10048	1280	45	2		2	MUC4	3	195517437	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	8547902	195517437	2504993	97	75385											
MFI2	4241	broad.mit.edu	37	chr3	196746673	196746673	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccttcgtgatggactttCtgatttaaaaggcaatggtt	9	16	10	6	1	1	2	0	2	1	0	2	3	1	3	1	3	1	2	1	3	3	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:196746673C>T	ENST00000296351.4	-	7	801		c.e7-1		MFI2_ENST00000296350.5_Intron	NM_033316.3	NP_201573.1	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5						cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GATGGACTTTCTGATTTAAAA	0.463													4	41					0	0	0	0	T	196746673	C	T	196746673	5	4	394	1	0	0	0	0	0	0	1	0	9591	927	32	2	1745	2	MFI2	3	196746673	Splice_Site	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1229236	196746673	1275757	98	75386											
ZNF718	255403	broad.mit.edu	37	chr4	154713	154713	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttcagctgtgtgttctCatttcacccaaaacctttgg	7	17	6	11	0	4	0	3	0	2	0	5	0	4	0	2	1	2	2	2	1	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:154713C>G	ENST00000510175.1	+	0	148							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTGTGTTCTCATTTCACCCA	0.358													11	67					0	0	0	0	G	154713	C	G	154713	1	3	394	0	1	0	0	0	0	0	0	0	18215	826	29	2		2	ZNF718	4	154713	RNA	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		154713	190999563	99	75387			1	113		3	3	403	C		1.236105e-05
ZNF718	255403	broad.mit.edu	37	chr4	155037	155037	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtgctctcacgcctaactCaacacaaaagaattcatact	15	9	4	13	2	3	1	3	0	1	1	4	1	3	1	1	0	4	1	1	0	6	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:155037C>T	ENST00000510175.1	+	0	472							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACGCCTAACTCAACACAAAAG	0.338													8	41					0	0	0	0	T	155037	C	T	155037	1	4	394	0	1	0	0	0	0	0	0	0	18215	827	29	2		2	ZNF718	4	155037	RNA	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	324	155037	190999239	100	75388			1	113		3	3	403	C		1.236105e-05
ZNF718	255403	broad.mit.edu	37	chr4	155115	155115	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttaattggtcctcaattCttactaaacataagagaatt	14	15	4	8	0	2	1	1	0	1	1	3	2	3	1	2	1	2	0	2	1	7	8			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:155115C>G	ENST00000510175.1	+	0	550							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GTCCTCAATTCTTACTAAACA	0.403													5	43					0	0	0	0	G	155115	C	G	155115	1	3	394	0	1	0	0	0	0	0	0	0	18215	913	32	2		2	ZNF718	4	155115	RNA	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	78	155115	190999161	101	75389			1	113		3	3	403	C		1.236105e-05
ZNF141	7700	broad.mit.edu	37	chr4	367505	367505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaccctacaaatgtaaaGaatgtgacaaagcctttaaa	20	9	5	7	0	0	2	0	1	0	1	0	2	0	2	2	0	3	1	2	0	10	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:367505G>A	ENST00000240499.7	+	4	1428	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	427					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAATGTAAAGAATGTGACAA	0.363													38	102					0	0	0	0	A	367505	G	A	367505	3	1	394	1	0	0	0	0	1	0	0	0	17825	943	33	2	1293	2	ZNF141	4	367505	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	212390	367505	190786771	102	75390											
FGFR3	2261	broad.mit.edu	37	chr4	1806153	1806153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcatcctggtggtggCggctgtgacgctctgccgcc	2	11	14	14	3	2	1	1	1	1	0	3	1	3	1	4	4	1	3	4	4	0	1	rs28931615		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:1806153C>A	ENST00000340107.4	+	9	1434	c.1178C>A	c.(1177-1179)gCg>gAg	p.A393E	FGFR3_ENST00000440486.2_Missense_Mutation_p.A391E|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.A391E|FGFR3_ENST00000481110.2_Missense_Mutation_p.A391E	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	391					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.A391E(32)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTGGTGGTGGCGGCTGTGACG	0.657		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				10	335					0.000673444	0.000687064	1	0	A	1806153	C	A	1806153	3	1	394	1	0	0	0	0	1	0	0	0	5912	768	27	3	1357	3	FGFR3	4	1806153	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1438648	1806153	189348123	103	75391											
LETM1	3954	broad.mit.edu	37	chr4	1818565	1818565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaccctttttgtcaatCtcttgctggctttagattct	5	18	7	11	0	3	1	1	0	2	1	4	1	3	1	1	1	2	4	1	1	2	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:1818565C>A	ENST00000302787.2	-	12	2116	c.1820G>T	c.(1819-1821)aGa>aTa	p.R607I		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	607					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTTTGTCAATCTCTTGCTGGC	0.478													9	84					0.00448238	0.00455257	1	0	A	1818565	C	A	1818565	3	1	394	1	0	0	0	0	1	0	0	0	8787	913	32	2	411	2	LETM1	4	1818565	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	12412	1818565	189335711	104	75392											
NOP14	8602	broad.mit.edu	37	chr4	2956205	2956205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagctctttccgggacttCggtttctcccgctcctcgcc	3	13	8	17	4	3	0	1	0	2	0	8	1	5	1	4	2	1	3	4	2	0	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:2956205C>T	ENST00000416614.2	-	4	623	c.558G>A	c.(556-558)ccG>ccA	p.P186P	NOP14_ENST00000314262.6_Silent_p.P186P|NOP14_ENST00000502735.1_Silent_p.P186P|NOP14_ENST00000398071.4_Silent_p.P186P|NOP14-AS1_ENST00000503709.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	186					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCGGGACTTCGGTTTCTCCC	0.537													25	86					0	0	0	0	T	2956205	C	T	2956205	2	4	394	1	0	0	0	0	0	0	0	1	10606	871	31	1		1	NOP14	4	2956205	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1137640	2956205	188198071	105	75393											
KIAA0232	9778	broad.mit.edu	37	chr4	6865586	6865586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttggaagaagatgcagaGaaagaaggccattactatgg	15	8	12	6	0	0	4	0	0	0	4	0	6	0	5	2	3	2	1	2	3	6	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:6865586G>C	ENST00000307659.5	+	7	3932	c.3477G>C	c.(3475-3477)gaG>gaC	p.E1159D	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E1159D	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1159							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGATGCAGAGAAAGAAGGCC	0.398													3	73					0	0	0	0	C	6865586	G	C	6865586	3	2	394	1	0	0	0	0	1	0	0	0	8214	933	33	2	3495	2	KIAA0232	4	6865586	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3909381	6865586	184288690	106	75394											
DRD5	1816	broad.mit.edu	37	chr4	9783683	9783683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcagcaacggcaccgcGtacccggggcagttcgctct	7	5	13	16	5	1	0	0	0	1	0	2	0	1	0	3	4	3	7	3	4	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:9783683G>A	ENST00000304374.2	+	1	426	c.30G>A	c.(28-30)gcG>gcA	p.A10A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	10					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACGGCACCGCGTACCCGGGGC	0.721													4	9					0	0	0	0	A	9783683	G	A	9783683	2	1	394	1	0	0	0	0	0	0	0	1	4796	1132	40	1		1	DRD5	4	9783683	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2918097	9783683	181370593	107	75395											
WDR1	9948	broad.mit.edu	37	chr4	10117803	10117803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcccttagggtcgccGccgatgatcttggagacgcc	5	11	13	12	4	1	2	0	1	1	1	2	4	1	2	4	2	1	1	4	2	1	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:10117803G>A	ENST00000382452.2	-	2	354	c.72C>T	c.(70-72)ggC>ggT	p.G24G	WDR1_ENST00000502702.1_Silent_p.G24G|WDR1_ENST00000382451.2_Silent_p.G24G|WDR1_ENST00000499869.2_Silent_p.G24G	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	24					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TAGGGTCGCCGCCGATGATCT	0.617													3	18					0	0	0	0	A	10117803	G	A	10117803	2	1	394	1	0	0	0	0	0	0	0	1	17368	1074	38	1		1	WDR1	4	10117803	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	334120	10117803	181036473	108	75396											
KCNIP4	80333	broad.mit.edu	37	chr4	20734306	20734306	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgttttaattcctacctGaaaaaatgtttcaacgtgtt	11	18	5	7	1	2	1	1	1	1	0	3	1	3	1	2	0	2	3	2	0	6	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:20734306G>A	ENST00000382148.3	-	6	901	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	KCNIP4_ENST00000382149.4_5'UTR|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000447367.2_Nonsense_Mutation_p.Q180*|KCNIP4_ENST00000382152.2_Nonsense_Mutation_p.Q214*|KCNIP4_ENST00000509207.1_Nonsense_Mutation_p.Q152*|KCNIP4_ENST00000359001.5_Nonsense_Mutation_p.Q152*|KCNIP4_ENST00000382150.4_Nonsense_Mutation_p.Q193*	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	214	EF-hand 3.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATTCCTACCTGAAAAAATGTT	0.368													5	21					0	0	0	0	A	20734306	G	A	20734306	4	1	394	1	0	0	0	0	0	1	0	0	8095	1299	45	2	124	2	KCNIP4	4	20734306	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	10616503	20734306	170419970	109	75397											
GRXCR1	389207	broad.mit.edu	37	chr4	42965051	42965051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttgaagagaaaaacatagCcctgaatggtgaatatggaa	18	9	10	4	0	0	4	0	3	0	1	0	6	0	5	1	2	2	0	1	2	8	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:42965051C>A	ENST00000399770.2	+	2	527	c.527C>A	c.(526-528)gCc>gAc	p.A176D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	176	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAAAACATAGCCCTGAATGGT	0.448													72	270					6.5469e-37	6.91231e-37	1	0	A	42965051	C	A	42965051	3	1	394	1	0	0	0	0	1	0	0	0	6862	739	26	4	533	4	GRXCR1	4	42965051	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	22230745	42965051	148189225	110	75398											
GABRA4	2557	broad.mit.edu	37	chr4	46930645	46930645	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaccgaggtgtgcctttaGaagattcttgaacaactgtg	12	11	11	7	1	1	4	0	1	1	3	1	5	1	4	2	1	3	0	2	1	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:46930645G>C	ENST00000264318.3	-	9	2244	c.1262C>G	c.(1261-1263)tCt>tGt	p.S421C		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	421					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTGCCTTTAGAAGATTCTTG	0.443													12	66					0	0	0	0	C	46930645	G	C	46930645	3	2	394	1	0	0	0	0	1	0	0	0	6211	942	33	2	406	2	GABRA4	4	46930645	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3965594	46930645	144223631	111	75399											
LNX1	84708	broad.mit.edu	37	chr4	54327109	54327109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccaagaaacaatagttaGagtaattcttcctttaagtt	15	13	7	6	0	1	2	0	0	1	2	2	2	2	2	2	1	1	3	2	1	7	8			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:54327109G>A	ENST00000306888.2	-	10	2115	c.1864C>T	c.(1864-1866)Cta>Tta	p.L622L	LNX1_ENST00000263925.7_Silent_p.L718L|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	718						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAATAGTTAGAGTAATTCTT	0.358													15	53					0	0	0	0	A	54327109	G	A	54327109	2	1	394	1	0	0	0	0	0	0	0	1	8920	933	33	2		2	LNX1	4	54327109	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	7396464	54327109	136827167	112	75400											
RASGEF1B	153020	broad.mit.edu	37	chr4	82380544	82380544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtgcttccagggatccaGagaggaggttgttgtcatgg	8	11	16	6	0	1	2	1	1	0	1	3	5	3	4	2	4	1	3	2	4	0	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:82380544G>A	ENST00000436139.2	-	2	245	c.119C>T	c.(118-120)tCt>tTt	p.S40F	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.S40F|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.S40F|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.S40F			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	40	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CAGGGATCCAGAGAGGAGGTT	0.443													6	79					0	0	0	0	A	82380544	G	A	82380544	3	1	394	1	0	0	0	0	1	0	0	0	13152	942	33	2	1354	2	RASGEF1B	4	82380544	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	28053435	82380544	108773732	113	75401											
UBE2D3	7323	broad.mit.edu	37	chr4	103723796	103723796	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgatatgggctgtcattCtgtaaaaagaaaagtatgct	13	13	9	6	0	2	2	1	1	1	1	2	2	2	2	1	1	1	4	1	1	7	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:103723796C>T	ENST00000453744.2	-	5	634		c.e5-1		UBE2D3_ENST00000504211.1_Splice_Site|UBE2D3_ENST00000350435.7_Splice_Site|UBE2D3_ENST00000394803.5_Splice_Site|UBE2D3_ENST00000321805.7_Splice_Site|UBE2D3_ENST00000343106.5_Splice_Site|UBE2D3_ENST00000394801.4_Splice_Site|UBE2D3_ENST00000349311.8_Splice_Site|UBE2D3_ENST00000505207.1_Splice_Site|UBE2D3_ENST00000502404.1_Splice_Site|UBE2D3_ENST00000357194.6_Splice_Site|UBE2D3_ENST00000394804.2_Splice_Site|UBE2D3_ENST00000507845.1_Splice_Site|UBE2D3_ENST00000338145.3_Splice_Site	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3						apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GGCTGTCATTCTGTAAAAAGA	0.328													5	73					0	0	0	0	T	103723796	C	T	103723796	5	4	394	1	0	0	0	0	0	0	1	0	16946	927	32	2	392	2	UBE2D3	4	103723796	Splice_Site	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	21343252	103723796	87430480	114	75402											
UGT8	7368	broad.mit.edu	37	chr4	115544564	115544564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgctccattagcataCgtcccagagtttaactcact	9	12	6	14	1	1	1	1	0	0	1	4	1	4	1	3	0	4	4	3	0	3	4	rs139780560	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:115544564C>T	ENST00000310836.6	+	2	1050	c.528C>T	c.(526-528)taC>taT	p.Y176Y	UGT8_ENST00000394511.3_Silent_p.Y176Y	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	176					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CATTAGCATACGTCCCAGAGT	0.448													5	118					0	0	0	0	T	115544564	C	T	115544564	2	4	394	1	0	0	0	0	0	0	0	1	17061	547	19	1		1	UGT8	4	115544564	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	11820768	115544564	75609712	115	75403											
BBS12	166379	broad.mit.edu	37	chr4	123664194	123664194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatattaaaacagtattaGatagcatgcggcttcaagaa	18	10	7	6	1	1	2	1	0	0	2	1	2	1	2	0	1	3	3	0	1	9	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:123664194G>A	ENST00000542236.1	+	3	1528	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	BBS12_ENST00000314218.3_Missense_Mutation_p.D383N	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	383					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACAGTATTAGATAGCATGCG	0.443									Bardet-Biedl syndrome				4	50					0	0	0	0	A	123664194	G	A	123664194	3	1	394	1	0	0	0	0	1	0	0	0	1341	942	33	2	1149	2	BBS12	4	123664194	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	8119630	123664194	67490082	116	75404											
TMEM184C	55751	broad.mit.edu	37	chr4	148555370	148555370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattgtttcccgaggatcaaGatcaaaatgaacatacaagt	17	10	7	7	1	2	2	2	1	0	1	3	4	3	3	1	1	2	1	1	1	7	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:148555370G>C	ENST00000296582.3	+	10	1676	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	368						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CGAGGATCAAGATCAAAATGA	0.363													14	54					0	0	0	0	C	148555370	G	C	148555370	3	2	394	1	0	0	0	0	1	0	0	0	16200	942	33	2	1140	2	TMEM184C	4	148555370	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	24891176	148555370	42598906	117	75405											
IRF2	3660	broad.mit.edu	37	chr4	185309983	185309983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggcccgggtctcccggtCtggccgactgctgctggatg	2	9	16	14	3	2	0	0	0	2	0	3	2	2	1	3	5	2	3	3	5	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:185309983C>T	ENST00000393593.3	-	9	1186	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	327					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTCTCCCGGTCTGGCCGACTG	0.597													4	78					0	0	0	0	T	185309983	C	T	185309983	3	4	394	1	0	0	0	0	1	0	0	0	7881	913	32	2	74	2	IRF2	4	185309983	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	36754613	185309983	5844293	118	75406											
TLR3	7098	broad.mit.edu	37	chr4	187000069	187000069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggttcagctggaaaatCtccaagagcttctattatca	12	12	7	10	0	5	1	3	0	2	1	6	2	5	2	1	2	2	3	1	2	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:187000069C>T	ENST00000296795.2	+	3	621	c.517C>T	c.(517-519)Ctc>Ttc	p.L173F		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	173					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GCTGGAAAATCTCCAAGAGCT	0.313													5	34					0	0	0	0	T	187000069	C	T	187000069	3	4	394	1	0	0	0	0	1	0	0	0	16046	913	32	2	523	2	TLR3	4	187000069	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1690086	187000069	4154207	119	75407											
TRIML1	339976	broad.mit.edu	37	chr4	189068221	189068221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgagcagaaaggggaatCtccccaagccacctggggac	11	5	13	12	0	1	2	0	1	1	1	2	4	1	4	4	4	2	1	4	4	3	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:189068221C>T	ENST00000332517.3	+	6	1242	c.1102C>T	c.(1102-1104)Ctc>Ttc	p.L368F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	368	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAAGGGGAATCTCCCCAAGCC	0.527													11	74					0	0	0	0	T	189068221	C	T	189068221	3	4	394	1	0	0	0	0	1	0	0	0	16645	913	32	2	1124	2	TRIML1	4	189068221	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2068152	189068221	2086055	120	75408											
SDHA	6389	broad.mit.edu	37	chr5	224490	224490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccagatttctgctcagtatCcagtagtggatcatgaattt	10	15	8	8	0	3	2	2	1	1	1	5	3	5	3	2	1	1	3	2	1	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:224490C>T	ENST00000264932.6	+	3	281	c.166C>T	c.(166-168)Cca>Tca	p.P56S	SDHA_ENST00000504309.1_Missense_Mutation_p.P56S|SDHA_ENST00000510361.1_Missense_Mutation_p.P56S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	56					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGCTCAGTATCCAGTAGTGGA	0.453									Familial Paragangliomas				32	236					0	0	0	0	T	224490	C	T	224490	3	4	394	1	0	0	0	0	1	0	0	0	14050	855	30	2	176	2	SDHA	5	224490	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		224490	180690770	121	75409											
PAPD7	11044	broad.mit.edu	37	chr5	6754898	6754898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaactgtccatgaagggctCtcacggccacacccaaggcg	11	5	11	14	2	1	1	1	1	1	0	3	2	2	1	3	3	1	1	3	3	3	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:6754898C>G	ENST00000230859.6	+	13	1598	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	490					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAAGGGCTCTCACGGCCAC	0.627													6	19					0	0	0	0	G	6754898	C	G	6754898	3	3	394	1	0	0	0	0	1	0	0	0	11497	913	32	2	1515	2	PAPD7	5	6754898	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	6530408	6754898	174160362	122	75410											
NIPBL	25836	broad.mit.edu	37	chr5	37008732	37008732	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattactaaacaggtattctCaagatatgaaaaacataggc	19	10	6	6	0	1	2	1	1	1	1	2	2	1	2	0	2	3	1	0	2	10	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:37008732C>G	ENST00000282516.8	+	20	4827	c.4328C>G	c.(4327-4329)tCa>tGa	p.S1443*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S1443*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1443					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGGTATTCTCAAGATATGAA	0.274													7	68					0	0	0	0	G	37008732	C	G	37008732	4	3	394	1	0	0	0	0	0	1	0	0	10498	838	29	2	4402	2	NIPBL	5	37008732	Nonsense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	30253834	37008732	143906528	123	75411											
C6	729	broad.mit.edu	37	chr5	41149487	41149487	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagaaaatggagttgctGattatttaaacatttctcag	14	15	8	4	0	1	2	1	1	1	1	2	3	1	3	0	1	2	3	0	1	6	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:41149487G>A	ENST00000263413.3	-	17	2743	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*	C6_ENST00000337836.5_Nonsense_Mutation_p.Q827*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	827	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGGAGTTGCTGATTATTTAAA	0.418													36	158					0	0	0	0	A	41149487	G	A	41149487	4	1	394	1	0	0	0	0	0	1	0	0	2336	1299	45	2	333	2	C6	5	41149487	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	4140755	41149487	139765773	124	75412											
C6	729	broad.mit.edu	37	chr5	41181638	41181638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttgtagaaatctgttttCaagtcatcttctgcagtttg	8	18	7	8	0	5	1	2	0	3	1	6	1	6	1	1	0	1	4	1	0	3	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:41181638C>G	ENST00000263413.3	-	7	1014	c.750G>C	c.(748-750)ttG>ttC	p.L250F	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.L250F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	250	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AATCTGTTTTCAAGTCATCTT	0.358													3	32					0	0	0	0	G	41181638	C	G	41181638	3	3	394	1	0	0	0	0	1	0	0	0	2336	825	29	2	2102	2	C6	5	41181638	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	32151	41181638	139733622	125	75413											
PDE4D	5144	broad.mit.edu	37	chr5	58273018	58273018	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttttatcagctacttacGatgtcaatgaccattttcct	9	16	6	10	1	2	1	2	1	0	0	3	2	3	1	2	1	3	2	2	1	4	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:58273018G>A	ENST00000340635.6	-	12	1882	c.1707_splice	c.e12+1	p.I569_splice	PDE4D_ENST00000503258.1_Splice_Site_p.I439_splice|PDE4D_ENST00000502484.2_Splice_Site_p.I508_splice|PDE4D_ENST00000546160.1_Splice_Site_p.I508_splice|PDE4D_ENST00000358923.6_Splice_Site_p.I267_splice|PDE4D_ENST00000317118.8_Splice_Site_p.I278_splice|PDE4D_ENST00000507116.1_Splice_Site_p.I505_splice|PDE4D_ENST00000360047.5_Splice_Site_p.I433_splice|PDE4D_ENST00000405755.2_Splice_Site_p.I447_splice	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	569					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGCTACTTACGATGTCAATGA	0.338													5	57					0	0	0	0	A	58273018	G	A	58273018	5	1	394	1	0	0	0	0	0	0	1	0	11713	1072	37	1	738	1	PDE4D	5	58273018	Splice_Site	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	17091380	58273018	122642242	126	75414											
BDP1	55814	broad.mit.edu	37	chr5	70806670	70806670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagtgctataagggaaaagGagattgatttgaaagaaact	17	10	11	3	0	1	4	1	2	0	2	1	6	1	5	0	2	2	1	0	2	6	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:70806670G>A	ENST00000358731.4	+	17	4014	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1251	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGGAAAAGGAGATTGATTT	0.383													5	129					0	0	0	0	A	70806670	G	A	70806670	3	1	394	1	0	0	0	0	1	0	0	0	1399	1175	41	2	3817	2	BDP1	5	70806670	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	12533652	70806670	110108590	127	75415											
MCCC2	64087	broad.mit.edu	37	chr5	70922470	70922470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcttggattccagatcGcagtggtcatgggctcctgc	5	12	14	10	1	1	1	1	0	0	1	4	2	3	2	2	3	2	3	2	3	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:70922470G>A	ENST00000340941.6	+	7	757	c.628G>A	c.(628-630)Gca>Aca	p.A210T	MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.A210T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	210	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	ATTCCAGATCGCAGTGGTCAT	0.512													5	23					0	0	0	0	A	70922470	G	A	70922470	3	1	394	1	0	0	0	0	1	0	0	0	9444	1087	38	1	654	1	MCCC2	5	70922470	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	115800	70922470	109992790	128	75416											
MEF2C	4208	broad.mit.edu	37	chr5	88056883	88056883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtgcgtggggtgagTgcataagaggagtcgggatc	8	10	17	6	2	2	2	1	1	1	1	4	4	2	4	0	4	2	1	0	4	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:88056883T>C	ENST00000340208.5	-	6	783	c.378A>G	c.(376-378)gcA>gcG	p.A126A	MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000424173.2_Silent_p.A106A|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000514015.1_Intron	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	108					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTGGGGTGAGTGCATAAGAGG	0.373										HNSCC(66;0.2)			4	74					0	0	0	0	C	88056883	T	C	88056883	2	2	394	1	0	0	0	0	0	0	0	1	9526	1683	59	5		5	MEF2C	5	88056883	Silent	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	17134413	88056883	92858377	129	75417											
IRF1	3659	broad.mit.edu	37	chr5	131825147	131825147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatctctagccagggtctCatgcgcatccgagtgatggg	7	10	13	11	2	2	1	1	1	2	0	5	2	3	1	2	2	3	2	2	2	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:131825147C>T	ENST00000245414.4	-	2	282	c.24G>A	c.(22-24)atG>atA	p.M8I	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.M8I	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	8			M -> L (in GASC; somatic mutation; produces a protein with markedly reduced transcriptional activity but unaltered DNA-binding activity).		blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCAGGGTCTCATGCGCATCC	0.502													14	31					0	0	0	0	T	131825147	C	T	131825147	3	4	394	1	0	0	0	0	1	0	0	0	7880	826	29	2	989	2	IRF1	5	131825147	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	43768264	131825147	49090113	130	75418											
PCBD2	84105	broad.mit.edu	37	chr5	134296335	134296335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaaaaagatgtgaagctGgccaagtttattgaaaaagc	18	8	9	6	0	0	3	0	2	0	1	0	3	0	3	2	1	2	2	2	1	8	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:134296335G>A	ENST00000512783.1	+	4	377	c.357G>A	c.(355-357)ctG>ctA	p.L119L	PCBD2_ENST00000254908.6_Silent_p.L119L			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	119					positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGTGAAGCTGGCCAAGTTTA	0.368													3	11					0	0	0	0	A	134296335	G	A	134296335	2	1	394	1	0	0	0	0	0	0	0	1	11570	1335	47	4		4	PCBD2	5	134296335	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2471188	134296335	46618925	131	75419											
PSD2	84249	broad.mit.edu	37	chr5	139216519	139216519	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtcccacaggcgctCagtgccaccacctacaagca	10	6	9	16	1	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:139216519C>A	ENST00000274710.3	+	10	1732	c.1527C>A	c.(1525-1527)ctC>ctA	p.L509L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	509					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCGCTCAGTGCCACCA	0.617													8	91					0.000157383	0.000162023	1	0	A	139216519	C	A	139216519	2	1	394	1	0	0	0	0	0	0	0	1	12726	813	29	2		2	PSD2	5	139216519	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4920184	139216519	41698741	132	75420											
SLC4A9	83697	broad.mit.edu	37	chr5	139743692	139743692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggagctgccttctgcctGatggcaggccagcccctcac	5	8	12	16	0	2	1	1	1	1	0	2	2	2	2	5	3	4	3	5	3	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:139743692G>A	ENST00000230993.6	+	10	1415	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	SLC4A9_ENST00000506545.1_Silent_p.L436L|SLC4A9_ENST00000507527.1_Silent_p.L460L|SLC4A9_ENST00000506757.2_Silent_p.L436L|SLC4A9_ENST00000432095.2_Silent_p.L425L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	460	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCTGCCTGATGGCAGGCC	0.622													6	14					0	0	0	0	A	139743692	G	A	139743692	2	1	394	1	0	0	0	0	0	0	0	1	14748	1277	45	2		2	SLC4A9	5	139743692	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	527173	139743692	41171568	133	75421											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802777	140802777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcggccaccgtcacgctCaccgtggctgtggccgacag	5	7	12	17	5	3	0	2	0	1	0	4	1	3	0	4	3	0	2	4	3	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:140802777C>T	ENST00000398587.2	+	1	2016	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCACGCTCACCGTGGCTG	0.662													4	68					0	0	0	0	T	140802777	C	T	140802777	2	4	394	1	0	0	0	0	0	0	0	1	11623	813	29	2		2	PCDHGA11	5	140802777	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1059085	140802777	40112483	134	75422											
NDST1	3340	broad.mit.edu	37	chr5	149900959	149900959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcgaggcctggagccctCggcggatgcccccgagcctg	6	4	16	15	4	0	0	0	0	0	0	1	5	0	2	5	4	4	0	5	4	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:149900959C>T	ENST00000261797.6	+	2	645	c.143C>T	c.(142-144)tCg>tTg	p.S48L	NDST1_ENST00000523767.1_Missense_Mutation_p.S48L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	48	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGCCCTCGGCGGATGCC	0.652													4	84					0	0	0	0	T	149900959	C	T	149900959	3	4	394	1	0	0	0	0	1	0	0	0	10325	893	31	1	145	1	NDST1	5	149900959	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	9098182	149900959	31014301	135	75423											
FAM153C	653316	broad.mit.edu	37	chr5	177473933	177473933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaaagaccaaagtggaaGaggaagtgtgagtgtgcagt	16	6	15	4	0	0	4	0	1	0	3	0	6	0	6	1	2	1	1	1	2	5	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:177473933G>A	ENST00000398106.2	+	9	787	c.334G>A	c.(334-336)Gag>Aag	p.E112K	FAM153C_ENST00000507848.1_Missense_Mutation_p.E112K|FAM153C_ENST00000511189.1_Missense_Mutation_p.E141K					family with sequence similarity 153, member C											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAAGTGGAAGAGGAAGTGTG	0.498													12	57					0	0	0	0	A	177473933	G	A	177473933	3	1	394	1	0	0	0	0	1	0	0	0	5503	943	33	2	364	2	FAM153C	5	177473933	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	27572974	177473933	3441327	136	75424											
ZNF354C	30832	broad.mit.edu	37	chr5	178506175	178506175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaccctacaaatgtaatGagtgtgaaaaaaccttcagc	18	8	7	8	0	1	3	1	2	0	1	1	3	1	3	2	0	4	1	2	0	7	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:178506175G>A	ENST00000315475.6	+	5	1048	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAAATGTAATGAGTGTGAAAA	0.388													14	42					0	0	0	0	A	178506175	G	A	178506175	3	1	394	1	0	0	0	0	1	0	0	0	17961	1291	45	2	756	2	ZNF354C	5	178506175	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1032242	178506175	2409085	137	75425											
GMDS	2762	broad.mit.edu	37	chr6	1742796	1742796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgaagtcctccggctcatCattctgcaacatcaaccaca	13	8	5	15	2	4	0	3	0	1	0	6	1	6	0	3	1	4	2	3	1	4	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:1742796C>T	ENST00000380815.4	-	8	1065	c.796G>A	c.(796-798)Gat>Aat	p.D266N	GMDS_ENST00000530927.1_Missense_Mutation_p.D236N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	266					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCGGCTCATCATTCTGCAAC	0.448													20	60					0	0	0	0	T	1742796	C	T	1742796	3	4	394	1	0	0	0	0	1	0	0	0	6537	826	29	2	338	2	GMDS	6	1742796	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		1742796	169372271	138	75426											
RPP40	10799	broad.mit.edu	37	chr6	5002435	5002435	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttcatgaccaggtttttCagttcttccgatagtatccc	7	16	8	10	1	3	1	2	1	1	0	5	2	5	1	3	1	0	4	3	1	2	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:5002435C>G	ENST00000380051.2	-	2	212	c.168G>C	c.(166-168)ctG>ctC	p.L56L	RPP40_ENST00000464646.1_5'UTR|RPP40_ENST00000319533.5_Silent_p.L56L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	56					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCAGGTTTTTCAGTTCTTCCG	0.363													11	51					0	0	0	0	G	5002435	C	G	5002435	2	3	394	1	0	0	0	0	0	0	0	1	13699	813	29	2		2	RPP40	6	5002435	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3259639	5002435	166112632	139	75427											
RREB1	6239	broad.mit.edu	37	chr6	7182275	7182275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaggggatcaagtccccctCgaagcctccaggaccaaatc	11	5	9	16	1	1	0	1	0	0	0	5	3	3	2	6	3	1	0	6	3	3	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:7182275C>G	ENST00000379938.2	+	4	668	c.131C>G	c.(130-132)tCg>tGg	p.S44W	RREB1_ENST00000379933.3_Missense_Mutation_p.S44W|RREB1_ENST00000349384.6_Missense_Mutation_p.S44W|RREB1_ENST00000334984.6_Missense_Mutation_p.S44W	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	44					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAGTCCCCCTCGAAGCCTCCA	0.542													11	37					0	0	0	0	G	7182275	C	G	7182275	3	3	394	1	0	0	0	0	1	0	0	0	13764	893	31	3	133	3	RREB1	6	7182275	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2179840	7182275	163932792	140	75428											
PRL	5617	broad.mit.edu	37	chr6	22287741	22287741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttataataagcagaaaggcGagactcttcatcagccatct	14	10	8	9	1	4	2	2	0	2	2	4	3	4	2	1	1	2	2	1	1	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:22287741G>A	ENST00000306482.1	-	5	1092	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	192					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GCAGAAAGGCGAGACTCTTCA	0.443													20	73					0	0	0	0	A	22287741	G	A	22287741	3	1	394	1	0	0	0	0	1	0	0	0	12608	1058	37	1	113	1	PRL	6	22287741	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	15105466	22287741	148827326	141	75429											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835242	27835242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagccttcttagttgccttCttcttagccggggatttctc	4	16	9	12	1	4	0	0	0	4	0	5	1	4	1	3	2	3	2	3	2	2	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:27835242C>T	ENST00000331442.3	-	1	117	c.66G>A	c.(64-66)aaG>aaA	p.K22K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	22					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TAGTTGCCTTCTTCTTAGCCG	0.602													5	53					0	0	0	0	T	27835242	C	T	27835242	2	4	394	1	0	0	0	0	0	0	0	1	7173	912	32	2		2	HIST1H1B	6	27835242	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5547501	27835242	143279825	142	75430											
HLA-A	3105	broad.mit.edu	37	chr6	29910689	29910689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccgcgggcgccgtggataGagcaggaggggccggagtat	8	4	20	9	5	0	1	0	0	0	1	0	4	0	4	3	6	2	2	3	6	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:29910689G>C	ENST00000396634.1	+	4	570	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	HLA-A_ENST00000376806.5_Missense_Mutation_p.E77Q|HLA-A_ENST00000376802.2_Missense_Mutation_p.E77Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.E77Q			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	77	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCGTGGATAGAGCAGGAGGG	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	42					0	0	0	0	C	29910689	G	C	29910689	3	2	394	1	0	0	0	0	1	0	0	0	7245	943	33	2	235	2	HLA-A	6	29910689	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2075447	29910689	141204378	143	75431											
ABCF1	23	broad.mit.edu	37	chr6	30553423	30553423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactgatatcatccacctcGatgcccagcggctccactac	9	8	7	17	2	1	1	1	1	0	0	4	2	3	1	4	1	3	2	4	1	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:30553423G>A	ENST00000326195.8	+	16	1676	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	ABCF1_ENST00000376545.3_Missense_Mutation_p.D484N|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	522	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CATCCACCTCGATGCCCAGCG	0.532													6	71					0	0	0	0	A	30553423	G	A	30553423	3	1	394	1	0	0	0	0	1	0	0	0	65	1058	37	1	1626	1	ABCF1	6	30553423	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	642734	30553423	140561644	144	75432											
VARS	7407	broad.mit.edu	37	chr6	31759487	31759487	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacatcatgaagacacctcGgggatttgctgctgacacat	11	9	10	11	1	1	3	1	2	0	1	2	4	1	4	1	2	2	3	1	2	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:31759487G>A	ENST00000375663.3	-	8	1440	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	VARS_ENST00000444930.2_Nonsense_Mutation_p.R39*	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	334					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AAGACACCTCGGGGATTTGCT	0.582													24	75					0	0	0	0	A	31759487	G	A	31759487	4	1	394	1	0	0	0	0	0	1	0	0	17219	1124	39	1	2886	1	VARS	6	31759487	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1206064	31759487	139355580	145	75433											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975130	32975130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccaggccccagtgctccaCctggcagtcatagacgtcct	8	8	9	16	1	1	1	1	0	0	1	4	1	4	1	6	2	1	2	6	2	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:32975130C>G	ENST00000229829.5	-	3	646	c.571G>C	c.(571-573)Gtg>Ctg	p.V191L	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.V161L	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	191	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CAGTGCTCCACCTGGCAGTCA	0.607													7	130					0	0	0	0	G	32975130	C	G	32975130	3	3	394	1	0	0	0	0	1	0	0	0	7250	507	18	4	193	4	HLA-DOA	6	32975130	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1215643	32975130	138139937	146	75434											
DNAH8	1769	broad.mit.edu	37	chr6	38754541	38754541	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcattatttatttgtagCtttacaagccacgctttttg	10	18	5	8	1	1	0	1	0	0	0	1	0	1	0	1	0	3	3	1	0	6	9			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:38754541C>G	ENST00000359357.3	+	16	1999	c.1744_splice	c.e16-1	p.A582_splice	DNAH8_ENST00000441566.1_Splice_Site_p.A582_splice|DNAH8_ENST00000449981.2_Splice_Site_p.A799_splice					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATTTGTAGCTTTACAAGCC	0.383													9	25					0	0	0	0	G	38754541	C	G	38754541	5	3	394	1	0	0	0	0	0	0	1	0	4643	811	28	4	1799	4	DNAH8	6	38754541	Splice_Site	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5779411	38754541	132360526	147	75435											
GPR116	221395	broad.mit.edu	37	chr6	46849830	46849830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagcctggtaaaattccGtaacccttccggaactgaaa	13	10	8	10	2	0	2	0	2	0	0	2	3	2	3	4	2	3	2	4	2	6	5	rs140241968	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:46849830G>A	ENST00000283296.7	-	7	915	c.627C>T	c.(625-627)taC>taT	p.Y209Y	GPR116_ENST00000456426.2_Silent_p.Y209Y|GPR116_ENST00000362015.4_Silent_p.Y209Y|GPR116_ENST00000265417.7_Silent_p.Y209Y	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	209	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTAAAATTCCGTAACCCTTCC	0.368													11	196					0	0	0	0	A	46849830	G	A	46849830	2	1	394	1	0	0	0	0	0	0	0	1	6682	1140	40	1		1	GPR116	6	46849830	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	8095289	46849830	124265237	148	75436											
GSTA2	2939	broad.mit.edu	37	chr6	52619863	52619863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggcacttgctggaacatCaaatatccatctttaagagg	13	12	8	8	0	2	1	1	0	1	1	3	2	3	2	1	3	2	2	1	3	4	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:52619863C>T	ENST00000493422.1	-	4	305	c.150G>A	c.(148-150)ttG>ttA	p.L50L		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	50	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GCTGGAACATCAAATATCCAT	0.393													5	128					0	0	0	0	T	52619863	C	T	52619863	2	4	394	1	0	0	0	0	0	0	0	1	6881	825	29	2		2	GSTA2	6	52619863	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5770033	52619863	118495204	149	75437											
DST	667	broad.mit.edu	37	chr6	56484764	56484764	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgctttctgcttgtcAtgttcttgctggagacccgt	3	18	9	11	1	5	1	1	0	4	1	5	2	5	1	1	1	3	4	1	1	0	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:56484764A>G	ENST00000370765.6	-	23	4175	c.4068T>C	c.(4066-4068)caT>caC	p.H1356H	DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5004					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGCTTGTCATGTTCTTGCT	0.433													4	116					0	0	0	0	G	56484764	A	G	56484764	2	3	394	1	0	0	0	0	0	0	0	1	4819	214	8	5		5	DST	6	56484764	Silent	SNP	A	TCGA-DQ-7594-01A-11D-2229-08	3864901	56484764	114630303	150	75438											
ZNF451	26036	broad.mit.edu	37	chr6	57011988	57011988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttattgtccagattgcaatCaagtctttgtggatgaaacc	11	14	9	7	0	2	2	1	1	1	1	3	3	3	3	2	1	2	2	2	1	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:57011988C>G	ENST00000370706.4	+	10	1349	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.Q369E|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.Q369E	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGATTGCAATCAAGTCTTTGT	0.408													4	65					0	0	0	0	G	57011988	C	G	57011988	3	3	394	1	0	0	0	0	1	0	0	0	18017	827	29	2	1143	2	ZNF451	6	57011988	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	527224	57011988	114103079	151	75439											
FILIP1	27145	broad.mit.edu	37	chr6	76022561	76022561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgtctgcaaatgcgcctCttccactttctggagtcttc	5	14	8	14	1	4	0	0	0	4	0	6	1	5	1	3	1	2	1	3	1	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:76022561C>T	ENST00000393004.2	-	5	3208	c.2987G>A	c.(2986-2988)aGa>aAa	p.R996K	FILIP1_ENST00000370020.1_Missense_Mutation_p.R897K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R996K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	996										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAATGCGCCTCTTCCACTTTC	0.478													26	72					0	0	0	0	T	76022561	C	T	76022561	3	4	394	1	0	0	0	0	1	0	0	0	5939	913	32	2	662	2	FILIP1	6	76022561	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	19010573	76022561	95092506	152	75440											
HTR1B	3351	broad.mit.edu	37	chr6	78172128	78172128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatcactagggagatgatGaagaagggtagccaacacac	15	5	13	8	0	1	4	1	2	0	2	1	5	1	4	1	3	2	2	1	3	5	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:78172128G>A	ENST00000369947.2	-	1	1362	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	331					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGGAGATGATGAAGAAGGGTA	0.498													22	108					0	0	0	0	A	78172128	G	A	78172128	2	1	394	1	0	0	0	0	0	0	0	1	7490	1281	45	2		2	HTR1B	6	78172128	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2149567	78172128	92942939	153	75441											
TPBG	7162	broad.mit.edu	37	chr6	83075264	83075264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcggcagaaccggagcttcGagggcatggtggtggcggcc	7	5	19	10	4	0	1	0	0	0	1	1	3	0	2	2	7	3	3	2	7	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:83075264G>C	ENST00000369750.3	+	2	1203	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	TPBG_ENST00000543496.1_Missense_Mutation_p.E196Q|TPBG_ENST00000535040.1_Missense_Mutation_p.E196Q			Q13641	TPBG_HUMAN	trophoblast glycoprotein	196					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CCGGAGCTTCGAGGGCATGGT	0.667													8	149					0	0	0	0	C	83075264	G	C	83075264	3	2	394	1	0	0	0	0	1	0	0	0	16489	1059	37	3	588	3	TPBG	6	83075264	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	4903136	83075264	88039803	154	75442											
DOPEY1	23033	broad.mit.edu	37	chr6	83863923	83863923	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagcaattatggacaatctGatgacacatgataaaacaac	19	8	7	7	0	1	4	0	3	1	1	1	5	1	5	0	1	3	1	0	1	6	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:83863923G>C	ENST00000349129.2	+	33	6674	c.6414G>C	c.(6412-6414)ctG>ctC	p.L2138L	DOPEY1_ENST00000237163.5_Silent_p.L2068L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.L2129L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2138					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGGACAATCTGATGACACATG	0.343													5	77					0	0	0	0	C	83863923	G	C	83863923	2	2	394	1	0	0	0	0	0	0	0	1	4743	1277	45	2		2	DOPEY1	6	83863923	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	788659	83863923	87251144	155	75443											
MDN1	23195	broad.mit.edu	37	chr6	90402573	90402573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctcacggcatctggataGaaggtgtactcctctgacag	9	9	13	10	1	3	2	1	1	2	1	4	3	4	3	1	4	1	3	1	4	3	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:90402573G>A	ENST00000369393.3	-	63	10291	c.10176C>T	c.(10174-10176)ttC>ttT	p.F3392F	MDN1_ENST00000428876.1_Silent_p.F3392F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3392					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATCTGGATAGAAGGTGTACT	0.572													4	68					0	0	0	0	A	90402573	G	A	90402573	2	1	394	1	0	0	0	0	0	0	0	1	9484	933	33	2		2	MDN1	6	90402573	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	6538650	90402573	80712494	156	75444											
SOBP	55084	broad.mit.edu	37	chr6	107827579	107827579	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaaaggatcatggcagTgtgcccattattgtaccttt	9	13	11	8	0	2	0	2	0	0	0	2	1	2	1	2	3	2	2	2	3	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:107827579T>C	ENST00000317357.5	+	3	1028	c.369T>C	c.(367-369)agT>agC	p.S123S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	123							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ATCATGGCAGTGTGCCCATTA	0.428													11	215					0	0	0	0	C	107827579	T	C	107827579	2	2	394	1	0	0	0	0	0	0	0	1	15000	1693	59	5		5	SOBP	6	107827579	Silent	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	17425006	107827579	63287488	157	75445											
HSF2	3298	broad.mit.edu	37	chr6	122744730	122744730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttttttccttagggttGagctgttggattatcttgac	6	21	9	5	0	1	2	0	2	1	0	2	3	2	3	1	2	1	3	1	2	2	9			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:122744730G>C	ENST00000452194.1	+	10	1262	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	HSF2_ENST00000368455.4_Missense_Mutation_p.E359Q|HSF2_ENST00000465214.1_3'UTR	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	359					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CCTTAGGGTTGAGCTGTTGGA	0.348													12	67					0	0	0	0	C	122744730	G	C	122744730	3	2	394	1	0	0	0	0	1	0	0	0	7446	1291	45	2	1113	2	HSF2	6	122744730	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	14917151	122744730	48370337	158	75446											
ECT2L	345930	broad.mit.edu	37	chr6	139206877	139206877	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaatcttctctacgctgtCaggcttcatacccctgcaga	8	13	6	14	1	4	1	2	0	2	1	5	1	4	1	2	1	3	3	2	1	3	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:139206877C>G	ENST00000423192.1	+	17	2330	c.2169C>G	c.(2167-2169)gtC>gtG	p.V723V	ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Silent_p.V723V			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	723	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTACGCTGTCAGGCTTCATA	0.468			"N, Splice, Mis"		ETP ALL								9	36					0	0	0	0	G	139206877	C	G	139206877	2	3	394	1	0	0	0	0	0	0	0	1	4938	813	29	2		2	ECT2L	6	139206877	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	16462147	139206877	31908190	159	75447											
PHACTR2	9749	broad.mit.edu	37	chr6	144086673	144086673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagactgtccctggagctGaggagcagaacacaggcaaa	15	4	12	10	0	0	3	0	1	0	2	1	5	1	5	1	3	4	3	1	3	3	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:144086673G>A	ENST00000427704.2	+	6	1067	c.937G>A	c.(937-939)Gag>Aag	p.E313K	PHACTR2_ENST00000367582.3_Missense_Mutation_p.E244K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E301K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E324K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E233K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	313							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTGGAGCTGAGGAGCAGAA	0.567													14	43					0	0	0	0	A	144086673	G	A	144086673	3	1	394	1	0	0	0	0	1	0	0	0	11882	1291	45	2	1009	2	PHACTR2	6	144086673	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	4879796	144086673	27028394	160	75448											
SYNE1	23345	broad.mit.edu	37	chr6	152749342	152749342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagtgctgctcacctCtgccagtgggccagcagatt	10	8	12	11	0	2	1	1	0	1	1	2	2	2	2	3	2	4	3	3	2	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:152749342C>A	ENST00000367255.5	-	37	5575	c.4974G>T	c.(4972-4974)caG>caT	p.Q1658H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1665H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1658H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1728H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1665H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1658H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1658					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTCACCTCTGCCAGTGGG	0.507										HNSCC(10;0.0054)			14	320					0.00185496	0.00188823	1	0	A	152749342	C	A	152749342	3	1	394	1	0	0	0	0	1	0	0	0	15536	912	32	2	21932	2	SYNE1	6	152749342	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	8662669	152749342	18365725	161	75449											
LPA	4018	broad.mit.edu	37	chr6	161022029	161022029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattctgcatctgagcatCgtgtcaggttgcagtactcc	7	13	9	12	1	3	1	1	1	2	0	6	1	5	1	2	1	4	5	2	1	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:161022029C>A	ENST00000447678.1	-	20	3167	c.3047G>T	c.(3046-3048)cGa>cTa	p.R1016L	LPA_ENST00000316300.5_Missense_Mutation_p.R1016L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3524	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATCTGAGCATCGTGTCAGGTT	0.498													13	65					7.03913e-09	7.38052e-09	1	0	A	161022029	C	A	161022029	3	1	394	1	0	0	0	0	1	0	0	0	8967	884	31	3	3159	3	LPA	6	161022029	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	8272687	161022029	10093038	162	75450											
GLCCI1	113263	broad.mit.edu	37	chr7	8110643	8110643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacactcagactccttctgtCcaggagcgcagcagtagctg	9	8	11	13	1	2	1	1	0	1	1	4	3	4	2	2	1	3	4	2	1	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:8110643C>T	ENST00000223145.5	+	6	1616	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	353										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCCTTCTGTCCAGGAGCGCA	0.537													24	82					0	0	0	0	T	8110643	C	T	8110643	2	4	394	1	0	0	0	0	0	0	0	1	6482	842	30	2		2	GLCCI1	7	8110643	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		8110643	151028020	163	75451											
NEUROD6	63974	broad.mit.edu	37	chr7	31378678	31378678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaggcaacccattttcatCttcctcttccctgtcttcct	5	17	3	16	0	5	0	1	0	4	0	8	0	8	0	4	1	1	1	4	1	2	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:31378678C>G	ENST00000297142.3	-	2	527	c.205G>C	c.(205-207)Gat>Cat	p.D69H		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	69					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCAttttcatcttcctcttcc	0.478													39	145					0	0	0	0	G	31378678	C	G	31378678	3	3	394	1	0	0	0	0	1	0	0	0	10421	913	32	2	812	2	NEUROD6	7	31378678	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	23268035	31378678	127759985	164	75452											
POM121	9883	broad.mit.edu	37	chr7	72409154	72409154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagaaatggccccagttCatcacccttctctagcccag	11	8	8	14	0	3	1	2	0	1	1	4	3	3	1	4	1	1	1	4	1	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:72409154C>T	ENST00000395270.1	+	9	1547	c.506C>T	c.(505-507)tCa>tTa	p.S169L	POM121_ENST00000434423.2_Missense_Mutation_p.S434L|POM121_ENST00000358357.3_Missense_Mutation_p.S169L|POM121_ENST00000446813.1_Missense_Mutation_p.S169L|POM121_ENST00000257622.4_Missense_Mutation_p.S169L	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	434	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCCCCAGTTCATCACCCTTC	0.493													23	139					0	0	0	0	T	72409154	C	T	72409154	3	4	394	1	0	0	0	0	1	0	0	0	12311	838	29	2	524	2	POM121	7	72409154	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	41030476	72409154	86729509	165	75453											
CD36	948	broad.mit.edu	37	chr7	80292364	80292364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcctcaattcacttattaAcaagtcaaaatcttctatgt	14	15	3	9	0	5	0	3	0	2	0	6	1	6	0	1	0	1	0	1	0	7	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:80292364A>G	ENST00000435819.1	+	9	1172	c.488A>G	c.(487-489)aAc>aGc	p.N163S	CD36_ENST00000433696.2_Missense_Mutation_p.N163S|CD36_ENST00000447544.2_Missense_Mutation_p.N163S|CD36_ENST00000394788.3_Missense_Mutation_p.N163S|CD36_ENST00000432207.1_Missense_Mutation_p.N163S|CD36_ENST00000544133.1_Missense_Mutation_p.N163S|CD36_ENST00000309881.7_Missense_Mutation_p.N163S|CD36_ENST00000538969.1_Intron|CD36_ENST00000534394.1_Missense_Mutation_p.N87S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	163					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TCACTTATTAACAAGTCAAAA	0.348													3	42					0	0	0	0	G	80292364	A	G	80292364	3	3	394	1	0	0	0	0	1	0	0	0	3036	43	2	5	502	5	CD36	7	80292364	Missense_Mutation	SNP	A	TCGA-DQ-7594-01A-11D-2229-08	7883210	80292364	78846299	166	75454											
KIAA1324L	222223	broad.mit.edu	37	chr7	86556203	86556203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcctcccggcagattttGggctctatccacttgtacat	8	13	8	12	1	1	2	0	0	1	2	4	2	4	2	3	2	1	3	3	2	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:86556203G>A	ENST00000450689.2	-	9	1304	c.1119C>T	c.(1117-1119)ccC>ccT	p.P373P	KIAA1324L_ENST00000444627.1_Silent_p.P373P|KIAA1324L_ENST00000416314.1_Silent_p.P206P|KIAA1324L_ENST00000297222.6_Silent_p.P133P	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	373						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGCAGATTTTGGGCTCTATCC	0.378													19	67					0	0	0	0	A	86556203	G	A	86556203	2	1	394	1	0	0	0	0	0	0	0	1	8275	1335	47	4		4	KIAA1324L	7	86556203	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	6263839	86556203	72582460	167	75455											
ABCB1	5243	broad.mit.edu	37	chr7	87144696	87144696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggatgtccggtcgggtggGatagttgaatacaacttcac	9	11	14	7	2	1	1	1	1	0	0	3	3	2	3	1	4	2	1	1	4	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:87144696G>A	ENST00000265724.3	-	26	3550	c.3133C>T	c.(3133-3135)Ccc>Tcc	p.P1045S	ABCB1_ENST00000543898.1_Missense_Mutation_p.P981S|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1045	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGTCGGGTGGGATAGTTGAAT	0.483													5	33					0	0	0	0	A	87144696	G	A	87144696	3	1	394	1	0	0	0	0	1	0	0	0	40	1174	41	2	725	2	ABCB1	7	87144696	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	588493	87144696	71993967	168	75456											
LRGUK	136332	broad.mit.edu	37	chr7	133948723	133948723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaatccctcagggccgcaGgtagactagcacttgatgtc	9	9	10	13	1	1	2	1	1	0	1	4	2	3	2	3	2	1	3	3	2	3	3	rs139686578		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:133948723G>A	ENST00000285928.2	+	20	2543	c.2474G>A	c.(2473-2475)aGg>aAg	p.R825K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	825							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CAGGGCCGCAGGTAGACTAGC	0.532													3	35					0	0	0	0	A	133948723	G	A	133948723	3	1	394	1	0	0	0	0	1	0	0	0	9007	1000	35	4	2552	4	LRGUK	7	133948723	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	46804027	133948723	25189940	169	75457											
PHYHIP	9796	broad.mit.edu	37	chr8	22079112	22079112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggcaggcggtcgcggcaGaagcggtcccccagggagcc	7	2	19	13	4	0	1	0	0	0	1	2	2	1	2	3	7	2	2	3	7	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:22079112G>C	ENST00000454243.2	-	5	1321	c.747C>G	c.(745-747)ttC>ttG	p.F249L	PHYHIP_ENST00000321613.3_Missense_Mutation_p.F249L	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	249										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGTCGCGGCAGAAGCGGTCCC	0.632													3	33					0	0	0	0	C	22079112	G	C	22079112	3	2	394	1	0	0	0	0	1	0	0	0	11938	933	33	2	249	2	PHYHIP	8	22079112	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		22079112	124284910	170	75458											
POLR3D	661	broad.mit.edu	37	chr8	22105694	22105694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggataagacagtggatgtgtCagacatgggaccttctcata	12	10	12	7	0	2	2	2	0	1	2	3	5	2	5	1	3	0	0	1	3	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:22105694C>T	ENST00000397802.4	+	4	604	c.389C>T	c.(388-390)tCa>tTa	p.S130L	POLR3D_ENST00000306433.4_Missense_Mutation_p.S130L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	130					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GTGGATGTGTCAGACATGGGA	0.463													5	59					0	0	0	0	T	22105694	C	T	22105694	3	4	394	1	0	0	0	0	1	0	0	0	12303	838	29	2	403	2	POLR3D	8	22105694	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	26582	22105694	124258328	171	75459											
ADAM7	8756	broad.mit.edu	37	chr8	24304726	24304726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagaagaattgttgtatGaaataaaactaaatagaaaa	23	10	7	1	0	0	5	0	2	0	3	0	5	0	5	0	0	1	2	0	0	12	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:24304726G>C	ENST00000175238.6	+	3	267	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	ADAM7_ENST00000441335.2_Missense_Mutation_p.E62Q|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E62Q	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	62					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATTGTTGTATGAAATAAAACT	0.338													4	74					0	0	0	0	C	24304726	G	C	24304726	3	2	394	1	0	0	0	0	1	0	0	0	251	1291	45	2	194	2	ADAM7	8	24304726	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2199032	24304726	122059296	172	75460											
FGFR1	2260	broad.mit.edu	37	chr8	38271726	38271726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaccctccttcagcagcttGaaaagttcctccacaggcac	10	9	7	15	0	1	2	1	2	0	0	4	2	4	2	4	1	2	4	4	1	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:38271726G>C	ENST00000341462.5	-	16	3071	c.2130C>G	c.(2128-2130)ttC>ttG	p.F710L	FGFR1_ENST00000397103.1_Missense_Mutation_p.F621L|FGFR1_ENST00000447712.2_Missense_Mutation_p.F710L|FGFR1_ENST00000326324.6_Missense_Mutation_p.F619L|FGFR1_ENST00000397108.4_Missense_Mutation_p.F708L|FGFR1_ENST00000532791.1_Missense_Mutation_p.F708L|FGFR1_ENST00000425967.3_Missense_Mutation_p.F741L|FGFR1_ENST00000356207.5_Missense_Mutation_p.F621L|FGFR1_ENST00000335922.5_Missense_Mutation_p.F700L|FGFR1_ENST00000397091.5_Missense_Mutation_p.F708L|FGFR1_ENST00000397113.2_Missense_Mutation_p.F708L			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	710	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCAGCAGCTTGAAAAGTTCCT	0.617		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						10	60					0	0	0	0	C	38271726	G	C	38271726	3	2	394	1	0	0	0	0	1	0	0	0	5908	1281	45	2	350	2	FGFR1	8	38271726	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	13967000	38271726	108092296	173	75461											
TOX	9760	broad.mit.edu	37	chr8	59764239	59764239	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgactggttaatggtagtCagctggccatgtggcatcat	8	13	13	7	0	2	1	2	1	0	0	2	1	2	1	1	4	1	4	1	4	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:59764239C>G	ENST00000361421.1	-	4	757	c.537G>C	c.(535-537)ctG>ctC	p.L179L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	179						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TAATGGTAGTCAGCTGGCCAT	0.527													18	39					0	0	0	0	G	59764239	C	G	59764239	2	3	394	1	0	0	0	0	0	0	0	1	16472	813	29	2		2	TOX	8	59764239	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	21492513	59764239	86599783	174	75462											
PREX2	80243	broad.mit.edu	37	chr8	69136817	69136817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagagttcagaacacagcGaagaatttgggagtcagaga	16	6	13	6	1	2	4	2	0	0	4	2	7	2	5	0	1	2	2	0	1	4	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:69136817G>A	ENST00000288368.4	+	39	5008	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1577					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACACAGCGAAGAATTTGG	0.458													4	54					0	0	0	0	A	69136817	G	A	69136817	2	1	394	1	0	0	0	0	0	0	0	1	12557	1045	37	1		1	PREX2	8	69136817	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	9372578	69136817	77227205	175	75463											
PI15	51050	broad.mit.edu	37	chr8	75757687	75757687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacatgaatgtttggggatCtgtgtggcgacgtgcagttt	9	13	14	5	2	1	1	0	1	1	0	1	3	1	2	0	3	2	3	0	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:75757687C>G	ENST00000260113.2	+	5	775	c.596C>G	c.(595-597)tCt>tGt	p.S199C	RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.S199C|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	199						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTTGGGGATCTGTGTGGCGA	0.418													17	52					0	0	0	0	G	75757687	C	G	75757687	3	3	394	1	0	0	0	0	1	0	0	0	11940	913	32	2	610	2	PI15	8	75757687	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	6620870	75757687	70606335	176	75464											
ZFHX4	79776	broad.mit.edu	37	chr8	77766771	77766771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatggacatgccctacatGatatttgaccccaacaatcc	12	9	5	15	0	0	2	0	2	0	0	1	3	1	3	5	1	3	0	5	1	4	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:77766771G>A	ENST00000521891.2	+	10	8062	c.7614G>A	c.(7612-7614)atG>atA	p.M2538I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCCTACATGATATTTGACC	0.542										HNSCC(33;0.089)			7	139					0	0	0	0	A	77766771	G	A	77766771	3	1	394	1	0	0	0	0	1	0	0	0	17730	1290	45	2	7648	2	ZFHX4	8	77766771	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2009084	77766771	68597251	177	75465											
ZFHX4	79776	broad.mit.edu	37	chr8	77768255	77768255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctccaaacagcacatttCaaaagtgagggagaccgttg	13	10	9	9	1	2	2	1	1	1	1	3	3	2	2	2	1	2	2	2	1	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:77768255C>T	ENST00000521891.2	+	10	9546	c.9098C>T	c.(9097-9099)tCa>tTa	p.S3033L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3007L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2988L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2988L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2988			V -> G (in dbSNP:rs16939380).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCACATTTCAAAAGTGAGG	0.537										HNSCC(33;0.089)			12	41					0	0	0	0	T	77768255	C	T	77768255	3	4	394	1	0	0	0	0	1	0	0	0	17730	838	29	2	9132	2	ZFHX4	8	77768255	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1484	77768255	68595767	178	75466											
LAPTM4B	55353	broad.mit.edu	37	chr8	98788011	98788011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtccgccccgcccccTccccgtccccgccgctgcag	3	4	9	25	5	0	0	0	0	0	0	3	0	3	0	11	0	1	2	11	0	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:98788011T>C	ENST00000445593.2	+	1	727	c.47T>C	c.(46-48)cTc>cCc	p.L16P	LAPTM4B_ENST00000521545.2_5'UTR	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	69					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			CCCCGCCCCCTCCCCGTCCCC	0.701													4	4					0	0	0	0	C	98788011	T	C	98788011	3	2	394	1	0	0	0	0	1	0	0	0	8678	1551	54	5	49	5	LAPTM4B	8	98788011	Missense_Mutation	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	21019756	98788011	47576011	179	75467											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412325	110412325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggagaggcctgaagcttGaggtgtggaataatagccgt	11	8	17	5	1	0	3	0	2	0	1	0	6	0	4	2	4	2	1	2	4	4	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:110412325G>A	ENST00000378402.5	+	13	1137	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	345	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGAAGCTTGAGGTGTGGAA	0.418										HNSCC(38;0.096)			35	112					0	0	0	0	A	110412325	G	A	110412325	3	1	394	1	0	0	0	0	1	0	0	0	12044	1291	45	2	1083	2	PKHD1L1	8	110412325	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	11624314	110412325	35951697	180	75468											
ZHX2	22882	broad.mit.edu	37	chr8	123966193	123966193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagctggagtcaggctGcggcagaaggtgtgtcggaa	10	7	17	7	2	1	2	1	0	0	2	2	4	1	4	0	5	2	3	0	5	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:123966193G>A	ENST00000314393.4	+	3	3278	c.2443G>A	c.(2443-2445)Gcg>Acg	p.A815T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	815						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGTCAGGCTGCGGCAGAAGG	0.587													3	23					0	0	0	0	A	123966193	G	A	123966193	3	1	394	1	0	0	0	0	1	0	0	0	17771	1319	46	4	2445	4	ZHX2	8	123966193	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	13553868	123966193	22397829	181	75469											
ASAP1	50807	broad.mit.edu	37	chr8	131073207	131073207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgggctttgggggcaggtctCcaggtggtggcttttgtggc	2	13	19	7	0	1	0	0	0	1	0	2	0	1	0	1	8	0	3	1	8	0	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:131073207C>G	ENST00000357668.1	-	27	2837	c.2810G>C	c.(2809-2811)gGa>gCa	p.G937A	ASAP1_ENST00000518721.1_Missense_Mutation_p.G937A			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	937	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGGCAGGTCTCCAGGTGGTGG	0.557													41	181					0	0	0	0	G	131073207	C	G	131073207	3	3	394	1	0	0	0	0	1	0	0	0	1014	855	30	2	591	2	ASAP1	8	131073207	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	7107014	131073207	15290815	182	75470											
CYP11B2	1585	broad.mit.edu	37	chr8	143993504	143993504	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctccaccaggaagtgcttCagcacctaggacagaggctg	10	7	12	12	0	2	1	1	0	1	1	3	3	2	3	3	3	2	3	3	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:143993504C>G	ENST00000323110.2	-	9	1406	c.1404G>C	c.(1402-1404)ctG>ctC	p.L468L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	468					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGAAGTGCTTCAGCACCTAGG	0.547									Familial Hyperaldosteronism type I		OREG0006851	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP11B2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	7	49					0	0	0	0	G	143993504	C	G	143993504	2	3	394	1	0	0	0	0	0	0	0	1	4178	813	29	2		2	CYP11B2	8	143993504	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	12920297	143993504	2370518	183	75471											
TEK	7010	broad.mit.edu	37	chr9	27157891	27157891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcttgtatctgatgctGaaacatctctcacctgcatt	9	15	5	12	0	4	2	1	2	3	0	5	2	4	2	2	0	4	3	2	0	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:27157891G>A	ENST00000380036.4	+	2	557	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.E39K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	39					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATCTGATGCTGAAACATCTCT	0.478													13	148					0	0	0	0	A	27157891	G	A	27157891	3	1	394	1	0	0	0	0	1	0	0	0	15845	1291	45	2	121	2	TEK	9	27157891	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		27157891	114055540	184	75472											
NOL6	65083	broad.mit.edu	37	chr9	33469590	33469590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtcctgggccaggtggtGagccaagtgggccaggtaga	7	6	20	8	0	0	2	0	1	0	1	1	2	1	2	4	7	1	1	4	7	2	1	rs150122122	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:33469590G>A	ENST00000379471.2	-	5	721	c.634C>T	c.(634-636)Cac>Tac	p.H212Y	NOL6_ENST00000455041.2_Missense_Mutation_p.H152Y|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	212					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GCCAGGTGGTGAGCCAAGTGG	0.607													24	121					0	0	0	0	A	33469590	G	A	33469590	3	1	394	1	0	0	0	0	1	0	0	0	10595	1290	45	2	2894	2	NOL6	9	33469590	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	6311699	33469590	107743841	185	75473											
MELK	9833	broad.mit.edu	37	chr9	36589550	36589550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagtgatttgccccggatCaaaacggagattgaggcctt	11	9	12	9	2	1	4	1	2	0	2	1	6	1	5	3	3	2	0	3	3	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:36589550C>G	ENST00000543751.1	+	3	211	c.66C>G	c.(64-66)atC>atG	p.I22M	MELK_ENST00000541717.1_Missense_Mutation_p.I54M|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000536329.1_Intron|MELK_ENST00000536860.1_Missense_Mutation_p.I54M|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000298048.2_Missense_Mutation_p.I54M|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000545008.1_Missense_Mutation_p.I54M	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	54	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGCCCCGGATCAAAACGGAGA	0.403													4	116					0	0	0	0	G	36589550	C	G	36589550	3	3	394	1	0	0	0	0	1	0	0	0	9539	816	29	2	172	2	MELK	9	36589550	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3119960	36589550	104623881	186	75474											
DCAF10	79269	broad.mit.edu	37	chr9	37861311	37861311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccacatggctatgggattCgcttgttgggatttgacaaa	9	12	11	9	1	0	1	0	1	0	0	1	3	0	3	2	3	0	3	2	3	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:37861311C>T	ENST00000242323.7	+	6	1449	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	DCAF10_ENST00000377724.3_Missense_Mutation_p.R496C|DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	496						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CTATGGGATTCGCTTGTTGGG	0.473													10	64					0	0	0	0	T	37861311	C	T	37861311	3	4	394	1	0	0	0	0	1	0	0	0	4294	884	31	1	1512	1	DCAF10	9	37861311	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1271761	37861311	103352120	187	75475											
GKAP1	80318	broad.mit.edu	37	chr9	86357454	86357454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttccttacctgaatagtGagctcattcttgatactttg	9	16	7	9	0	2	3	1	3	1	0	3	3	3	3	2	0	3	2	2	0	4	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:86357454G>A	ENST00000376371.2	-	11	1366	c.966C>T	c.(964-966)ctC>ctT	p.L322L	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Silent_p.L271L	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	322					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CCTGAATAGTGAGCTCATTCT	0.348													4	77					0	0	0	0	A	86357454	G	A	86357454	2	1	394	1	0	0	0	0	0	0	0	1	6474	1277	45	2		2	GKAP1	9	86357454	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	48496143	86357454	54855977	188	75476											
SECISBP2	79048	broad.mit.edu	37	chr9	91972917	91972917	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcacttgtgcccaaggatCagttccacaagatggttgag	10	11	10	10	0	2	2	2	1	1	1	4	3	3	3	2	2	1	2	2	2	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:91972917C>T	ENST00000375807.3	+	16	2343	c.2272C>T	c.(2272-2274)Cag>Tag	p.Q758*	SECISBP2_ENST00000339901.4_Nonsense_Mutation_p.Q685*|SECISBP2_ENST00000534113.2_Nonsense_Mutation_p.Q690*	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	758					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCCCAAGGATCAGTTCCACAA	0.582													13	32					0	0	0	0	T	91972917	C	T	91972917	4	4	394	1	0	0	0	0	0	1	0	0	14093	827	29	2	2334	2	SECISBP2	9	91972917	Nonsense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5615463	91972917	49240514	189	75477											
C5	727	broad.mit.edu	37	chr9	123768322	123768322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctttgccttgacagtatCagcaacacatataccttcag	12	11	5	13	0	2	1	2	1	0	0	2	1	2	1	3	0	4	2	3	0	4	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:123768322C>T	ENST00000223642.1	-	20	2466	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N	C5_ENST00000466280.1_5'UTR	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	813					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTGACAGTATCAGCAACACAT	0.343													12	50					0	0	0	0	T	123768322	C	T	123768322	3	4	394	1	0	0	0	0	1	0	0	0	2301	826	29	2	2681	2	C5	9	123768322	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	31795405	123768322	17445109	190	75478											
LHX2	9355	broad.mit.edu	37	chr9	126794948	126794948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctggagggccatgagcctCacagcccctcacaaacgact	11	5	9	16	1	2	1	2	1	0	0	2	3	2	2	5	2	3	0	5	2	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:126794948C>T	ENST00000373615.4	+	5	1922	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	395				GHEPHSPSQTTLTNLF -> AMSLTAPHKRLLPTFSNDSQP PHPTISLKKKLSLV (in Ref. 1; AAB08752).		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CCATGAGCCTCACAGCCCCTC	0.502													23	66					0	0	0	0	T	126794948	C	T	126794948	3	4	394	1	0	0	0	0	1	0	0	0	8825	826	29	2	1201	2	LHX2	9	126794948	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3026626	126794948	14418483	191	75479											
RABEPK	10244	broad.mit.edu	37	chr9	127996097	127996097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattccaactctctcactctGaaccatgaagctgagaaaga	14	9	7	11	0	3	4	1	3	2	2	5	6	4	4	2	0	3	1	2	0	4	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:127996097G>A	ENST00000373538.3	+	8	1267	c.957G>A	c.(955-957)ctG>ctA	p.L319L	RABEPK_ENST00000259460.8_Silent_p.L268L|RABEPK_ENST00000394125.4_Silent_p.L319L|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	319					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTCTCACTCTGAACCATGAAG	0.473													8	117					0	0	0	0	A	127996097	G	A	127996097	2	1	394	1	0	0	0	0	0	0	0	1	13045	1277	45	2		2	RABEPK	9	127996097	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1201149	127996097	13217334	192	75480											
GLE1	2733	broad.mit.edu	37	chr9	131285011	131285011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccctctcggagatggcatCtgaacaactgaagcggtttg	10	9	12	10	2	2	3	0	2	2	1	3	4	2	3	1	3	4	2	1	3	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:131285011C>T	ENST00000309971.4	+	4	603	c.497C>T	c.(496-498)tCt>tTt	p.S166F	GLE1_ENST00000539582.1_Intron|GLE1_ENST00000372770.4_Missense_Mutation_p.S166F	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	166					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GAGATGGCATCTGAACAACTG	0.453													7	73					0	0	0	0	T	131285011	C	T	131285011	3	4	394	1	0	0	0	0	1	0	0	0	6486	913	32	2	511	2	GLE1	9	131285011	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3288914	131285011	9928420	193	75481											
AIF1L	83543	broad.mit.edu	37	chr9	133987011	133987011	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtgaccagaagtacagtGatgaagagaaccttccagaa	15	8	11	7	0	0	6	0	3	0	3	1	7	1	6	3	0	2	1	3	0	5	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:133987011G>A	ENST00000372301.2	+	0	223				AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000247291.3_Missense_Mutation_p.D41N|AIF1L_ENST00000372302.1_Missense_Mutation_p.D41N|AIF1L_ENST00000372297.2_De_novo_Start_OutOfFrame|AIF1L_ENST00000372309.3_Missense_Mutation_p.D67N|AIF1L_ENST00000372300.1_Missense_Mutation_p.D41N|AIF1L_ENST00000372298.1_Missense_Mutation_p.D41N|AIF1L_ENST00000372312.3_Missense_Mutation_p.D46N			Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like							actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding			lung(2)	2						GAAGTACAGTGATGAAGAGAA	0.562													52	286					0	0	0	0	A	133987011	G	A	133987011	1	1	394	1	0	0	0	0	0	0	0	0	425	1290	45	2		2	AIF1L	9	133987011	Translation_Start_Site	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2702000	133987011	7226420	194	75482											
RAPGEF1	2889	broad.mit.edu	37	chr9	134503945	134503945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgcattacctgcctattGattccaacaggcaaactgga	11	10	9	11	0	0	1	0	1	0	0	1	2	1	2	3	3	5	3	3	3	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:134503945G>C	ENST00000372195.1	-	8	1251	c.1008C>G	c.(1006-1008)atC>atG	p.I336M	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.I319M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.I337M			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	319					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCTGCCTATTGATTCCAACAG	0.617													5	29					0	0	0	0	C	134503945	G	C	134503945	3	2	394	1	0	0	0	0	1	0	0	0	13125	1280	45	2	2344	2	RAPGEF1	9	134503945	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	516934	134503945	6709486	195	75483											
GTF3C4	9329	broad.mit.edu	37	chr9	135554902	135554902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcttccaaacaggtggtGaagcaaggcctgcaggagag	12	7	13	9	0	1	2	0	1	1	1	2	3	2	2	2	4	3	2	2	4	3	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:135554902G>A	ENST00000372146.4	+	2	2460	c.1896G>A	c.(1894-1896)gtG>gtA	p.V632V		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	632					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AACAGGTGGTGAAGCAAGGCC	0.552													8	92					0	0	0	0	A	135554902	G	A	135554902	2	1	394	1	0	0	0	0	0	0	0	1	6925	1277	45	2		2	GTF3C4	9	135554902	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1050957	135554902	5658529	196	75484											
QSOX2	169714	broad.mit.edu	37	chr9	139115873	139115873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaatggggtctaggcgcggGcaggcagggggccggcttcc	5	6	20	10	3	1	1	0	1	1	0	2	1	2	1	2	8	0	3	2	8	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:139115873G>A	ENST00000358701.5	-	4	601	c.564C>T	c.(562-564)tgC>tgT	p.C188C		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	188					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTAGGCGCGGGCAGGCAGGGG	0.547													12	93					0	0	0	0	A	139115873	G	A	139115873	2	1	394	1	0	0	0	0	0	0	0	1	12966	1195	42	4		4	QSOX2	9	139115873	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3560971	139115873	2097558	197	75485											
EXD3	54932	broad.mit.edu	37	chr9	140246646	140246646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagcctcgagtcagcctCagtcgccctgggaggagcag	7	6	13	15	2	2	0	2	0	0	0	5	3	3	2	4	2	3	1	4	2	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:140246646C>T	ENST00000340951.4	-	12	1240	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	EXD3_ENST00000342129.4_Missense_Mutation_p.E29K	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	349					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAGTCAGCCTCAGTCGCCCTG	0.642													5	96					0	0	0	0	T	140246646	C	T	140246646	3	4	394	1	0	0	0	0	1	0	0	0	5336	835	29	2	1629	2	EXD3	9	140246646	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1130773	140246646	966785	198	75486											
PITRM1	10531	broad.mit.edu	37	chr10	3197895	3197895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacttgtcatctggcctcatCgataaagtcagcttatgctg	9	14	8	10	1	4	0	3	0	1	0	5	1	4	0	1	1	3	2	1	1	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:3197895C>T	ENST00000380989.2	-	14	1547	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Silent_p.S503S|PITRM1_ENST00000380994.1_Silent_p.S61S|PITRM1_ENST00000451104.2_Silent_p.S471S	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	471					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGGCCTCATCGATAAAGTCA	0.483													8	50					0	0	0	0	T	3197895	C	T	3197895	2	4	394	1	0	0	0	0	0	0	0	1	12025	871	31	1		1	PITRM1	10	3197895	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		3197895	132336852	199	75487											
KLF6	1316	broad.mit.edu	37	chr10	3827192	3827192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggaagatgctgcacatGgggagcacgtccatgtcggg	8	8	15	10	2	0	1	0	0	0	1	3	3	2	3	2	4	3	3	2	4	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:3827192G>A	ENST00000497571.1	-	1	275	c.15C>T	c.(13-15)ccC>ccT	p.P5P	KLF6_ENST00000469435.1_Silent_p.P5P|KLF6_ENST00000542957.1_Silent_p.P5P	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	5					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGCTGCACATGGGGAGCACGT	0.687													13	37					0	0	0	0	A	3827192	G	A	3827192	2	1	394	1	0	0	0	0	0	0	0	1	8402	1335	47	4		4	KLF6	10	3827192	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	629297	3827192	131707555	200	75488											
NET1	10276	broad.mit.edu	37	chr10	5496313	5496313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaaagaaacaggatccaaGagtccaagacttcctccagc	16	6	7	12	0	1	3	1	0	0	3	5	4	5	4	4	1	2	0	4	1	5	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:5496313G>C	ENST00000355029.4	+	9	996	c.854G>C	c.(853-855)aGa>aCa	p.R285T	NET1_ENST00000380359.3_Missense_Mutation_p.R231T|NET1_ENST00000542715.1_Missense_Mutation_p.R104T	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	285	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CAGGATCCAAGAGTCCAAGAC	0.453													23	33					0	0	0	0	C	5496313	G	C	5496313	3	2	394	1	0	0	0	0	1	0	0	0	10408	942	33	2	985	2	NET1	10	5496313	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1669121	5496313	130038434	201	75489											
IL15RA	3601	broad.mit.edu	37	chr10	6008175	6008175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttcaacacgcactccgtCaggctggacgtgccggcttt	6	11	11	13	4	2	0	2	0	0	0	3	1	3	1	2	3	2	4	2	3	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:6008175C>T	ENST00000525219.2	-	2	402	c.108G>A	c.(106-108)ctG>ctA	p.L36L	IL15RA_ENST00000379971.1_Intron|IL15RA_ENST00000397248.2_Silent_p.L36L|IL15RA_ENST00000397251.3_Intron|IL15RA_ENST00000528354.1_Silent_p.L72L|IL15RA_ENST00000397255.3_Silent_p.L72L|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000530685.1_Silent_p.L72L|IL15RA_ENST00000379977.3_Silent_p.L72L|IL15RA_ENST00000397250.2_Intron	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	72	Sushi.				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CGCACTCCGTCAGGCTGGACG	0.552													4	46					0	0	0	0	T	6008175	C	T	6008175	2	4	394	1	0	0	0	0	0	0	0	1	7685	813	29	2		2	IL15RA	10	6008175	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	511862	6008175	129526572	202	75490											
SFMBT2	57713	broad.mit.edu	37	chr10	7412287	7412287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcacttgctcctgtctcttCcaaatattctccccagttaa	9	14	4	14	0	2	0	0	0	2	0	6	0	4	0	4	0	2	3	4	0	3	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:7412287C>G	ENST00000361972.4	-	3	241	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	SFMBT2_ENST00000397160.3_Missense_Mutation_p.E51Q|SFMBT2_ENST00000397167.1_Missense_Mutation_p.E51Q|SFMBT2_ENST00000379713.3_Missense_Mutation_p.E51Q|SFMBT2_ENST00000379711.2_Missense_Mutation_p.E51Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	51					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTGTCTCTTCCAAATATTCT	0.438													21	110					0	0	0	0	G	7412287	C	G	7412287	3	3	394	1	0	0	0	0	1	0	0	0	14245	864	30	2	2609	2	SFMBT2	10	7412287	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1404112	7412287	128122460	203	75491											
CELF2	10659	broad.mit.edu	37	chr10	11299820	11299820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggatcctccggggacctGatgggctgagtcgaggtgag	6	7	18	10	3	0	3	0	3	0	0	3	6	2	5	4	5	0	1	4	5	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:11299820G>A	ENST00000379261.4	+	5	594	c.502G>A	c.(502-504)Gat>Aat	p.D168N	CELF2_ENST00000399850.3_Missense_Mutation_p.D144N|CELF2_ENST00000537122.1_Missense_Mutation_p.D57N|CELF2_ENST00000315874.3_Missense_Mutation_p.D144N|CELF2_ENST00000416382.2_Missense_Mutation_p.D168N|CELF2_ENST00000542579.1_Missense_Mutation_p.D175N|CELF2_ENST00000354897.3_Missense_Mutation_p.D144N|CELF2_ENST00000354440.2_Missense_Mutation_p.D144N|CELF2_ENST00000450189.1_Missense_Mutation_p.D175N|CELF2_ENST00000427450.1_Missense_Mutation_p.D144N|CELF2_ENST00000417956.2_Missense_Mutation_p.D144N	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	168	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CCGGGGACCTGATGGGCTGAG	0.512													6	71					0	0	0	0	A	11299820	G	A	11299820	3	1	394	1	0	0	0	0	1	0	0	0	3245	1290	45	2	598	2	CELF2	10	11299820	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3887533	11299820	124234927	204	75492											
SLC39A12	221074	broad.mit.edu	37	chr10	18254415	18254415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtatctgatttcagtgtAtggaaaccaaaacgctgcag	12	13	9	7	1	2	1	1	1	1	0	2	2	2	2	1	1	3	4	1	1	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:18254415A>G	ENST00000377369.2	+	4	820	c.547A>G	c.(547-549)Atg>Gtg	p.M183V	SLC39A12_ENST00000377374.4_Missense_Mutation_p.M183V|SLC39A12_ENST00000539911.1_Missense_Mutation_p.M49V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.M183V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	183					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			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						ATTTCAGTGTATGGAAACCAA	0.363													6	58					0	0	0	0	G	18254415	A	G	18254415	3	3	394	1	0	0	0	0	1	0	0	0	14703	449	16	5	557	5	SLC39A12	10	18254415	Missense_Mutation	SNP	A	TCGA-DQ-7594-01A-11D-2229-08	6954595	18254415	117280332	205	75493											
GAD2	2572	broad.mit.edu	37	chr10	26569987	26569987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgatgggagtccctttgCagtgctctgctctcctggtt	5	14	12	10	0	2	2	0	1	2	1	4	3	3	3	2	2	3	4	2	2	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:26569987C>G	ENST00000376261.3	+	12	1710	c.1207C>G	c.(1207-1209)Cag>Gag	p.Q403E	GAD2_ENST00000259271.3_Missense_Mutation_p.Q403E	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	403					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			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)	AGTCCCTTTGCAGTGCTCTGC	0.507													14	73					0	0	0	0	G	26569987	C	G	26569987	3	3	394	1	0	0	0	0	1	0	0	0	6228	711	25	4	1253	4	GAD2	10	26569987	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	8315572	26569987	108964760	206	75494											
KIAA1462	57608	broad.mit.edu	37	chr10	30317652	30317652	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtattaagctctgtggattCcaaatggcaccatcaggctg	10	11	11	9	0	2	0	1	0	1	0	3	1	3	1	2	4	1	4	2	4	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:30317652C>T	ENST00000375377.1	-	3	1526	c.1425G>A	c.(1423-1425)tgG>tgA	p.W475*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	475										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTGTGGATTCCAAATGGCAC	0.577													13	126					0	0	0	0	T	30317652	C	T	30317652	4	4	394	1	0	0	0	0	0	1	0	0	8285	856	30	2	2662	2	KIAA1462	10	30317652	Nonsense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3747665	30317652	105217095	207	75495											
ZNF33A	7581	broad.mit.edu	37	chr10	38345085	38345085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatctttctgtgtaaaatCaggacttattttccatgaga	14	15	6	6	0	3	1	1	1	2	1	4	3	4	2	1	1	0	1	1	1	5	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:38345085C>T	ENST00000374618.3	+	5	2211	c.2033C>T	c.(2032-2034)tCa>tTa	p.S678L	ZNF33A_ENST00000458705.2_Missense_Mutation_p.S677L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S684L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S677L	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	677						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGTGTAAAATCAGGACTTATT	0.388													14	79					0	0	0	0	T	38345085	C	T	38345085	3	4	394	1	0	0	0	0	1	0	0	0	17949	838	29	2	2047	2	ZNF33A	10	38345085	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	8027433	38345085	97189662	208	75496											
ERCC6	2074	broad.mit.edu	37	chr10	50691528	50691528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtaagatgtgatcaaaattCcatgacaatgagcaacatct	17	10	7	7	0	2	4	1	3	1	1	3	4	3	4	1	0	2	2	1	0	5	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:50691528C>G	ENST00000355832.5	-	9	1934	c.1856G>C	c.(1855-1857)gGa>gCa	p.G619A	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	619	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATCAAAATTCCATGACAATG	0.383								Direct reversal of damage;Nucleotide excision repair (NER)					13	57					0	0	0	0	G	50691528	C	G	50691528	3	3	394	1	0	0	0	0	1	0	0	0	5255	855	30	2	2677	2	ERCC6	10	50691528	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	12346443	50691528	84843219	209	75497											
IFIT5	24138	broad.mit.edu	37	chr10	91177918	91177918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggttgatgagctgatttCatctgctatatttcatttca	11	17	7	6	0	4	3	3	3	1	0	4	3	4	3	0	1	2	3	0	1	3	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:91177918C>T	ENST00000371795.4	+	2	1175	c.962C>T	c.(961-963)tCa>tTa	p.S321L	IFIT5_ENST00000416601.1_Missense_Mutation_p.S273L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	321							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GAGCTGATTTCATCTGCTATA	0.438													45	167					0	0	0	0	T	91177918	C	T	91177918	3	4	394	1	0	0	0	0	1	0	0	0	7578	838	29	2	968	2	IFIT5	10	91177918	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	40486390	91177918	44356829	210	75498											
LGI1	9211	broad.mit.edu	37	chr10	95557087	95557087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaacgcctcatttaattCtgtctagtagttcccagcgt	9	14	7	11	2	4	1	2	0	2	1	5	1	5	1	2	0	2	2	2	0	4	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:95557087C>G	ENST00000371418.4	+	8	1461	c.1201C>G	c.(1201-1203)Ctg>Gtg	p.L401V	LGI1_ENST00000542308.1_Missense_Mutation_p.L353V|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	401					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.L401M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCATTTAATTCTGTCTAGTAG	0.428													17	54					0	0	0	0	G	95557087	C	G	95557087	3	3	394	1	0	0	0	0	1	0	0	0	8805	912	32	2	1231	2	LGI1	10	95557087	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4379169	95557087	39977660	211	75499											
TM9SF3	56889	broad.mit.edu	37	chr10	98303855	98303855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttccaaaaggaatggctCttgaagcatggtaataaatg	14	12	10	5	0	1	1	0	1	1	0	2	2	2	2	1	3	1	4	1	3	7	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:98303855C>G	ENST00000371142.4	-	9	1379	c.1163G>C	c.(1162-1164)aGa>aCa	p.R388T	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	388						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AGGAATGGCTCTTGAAGCATG	0.388													9	43					0	0	0	0	G	98303855	C	G	98303855	3	3	394	1	0	0	0	0	1	0	0	0	16073	913	32	2	634	2	TM9SF3	10	98303855	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2746768	98303855	37230892	212	75500											
SEC23IP	11196	broad.mit.edu	37	chr10	121685717	121685717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtgtgtgaattatgaatCttttgaagttggcgccggac	8	15	13	5	2	1	3	0	3	1	0	1	4	1	4	1	2	0	1	1	2	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:121685717C>T	ENST00000369075.3	+	13	2363	c.2291C>T	c.(2290-2292)tCt>tTt	p.S764F	SEC23IP_ENST00000543134.1_Missense_Mutation_p.S553F	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	764					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AATTATGAATCTTTTGAAGTT	0.428													22	129					0	0	0	0	T	121685717	C	T	121685717	3	4	394	1	0	0	0	0	1	0	0	0	14080	913	32	2	2341	2	SEC23IP	10	121685717	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	23381862	121685717	13849030	213	75501											
KNDC1	85442	broad.mit.edu	37	chr10	135024223	135024223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgcatcaacagcacgctGaccaggtaccaagctccaca	13	4	8	16	2	1	1	1	1	0	0	2	2	2	1	4	1	4	5	4	1	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:135024223G>A	ENST00000304613.3	+	21	3924	c.3903G>A	c.(3901-3903)ctG>ctA	p.L1301L	KNDC1_ENST00000368572.2_Silent_p.L1303L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1301	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACAGCACGCTGACCAGGTACC	0.612													12	143					0	0	0	0	A	135024223	G	A	135024223	2	1	394	1	0	0	0	0	0	0	0	1	8478	1277	45	2		2	KNDC1	10	135024223	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	13338506	135024223	510524	214	75502											
KCNQ1	3784	broad.mit.edu	37	chr11	2593314	2593314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcacctggaggctcctggGctccgtggtcttcatccacc	5	9	12	15	1	2	0	1	0	1	0	5	1	5	1	5	5	0	3	5	5	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:2593314G>T	ENST00000155840.5	+	5	863	c.755G>T	c.(754-756)gGc>gTc	p.G252V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.G125V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	252					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGGCTCCTGGGCTCCGTGGTC	0.677													3	6					0.115264	0.115774	1	0	T	2593314	G	T	2593314	3	4	394	1	0	0	0	0	1	0	0	0	8135	1203	42	4	782	4	KCNQ1	11	2593314	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		2593314	132413202	215	75503											
OR2AG2	338755	broad.mit.edu	37	chr11	6789727	6789727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtatgtcctatagcaatCagggatgccaggatccagga	12	9	12	8	0	1	0	1	0	0	0	3	3	3	3	3	4	2	2	3	4	4	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:6789727C>T	ENST00000338569.2	-	1	559	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTATAGCAATCAGGGATGCCA	0.507													11	34					0	0	0	0	T	6789727	C	T	6789727	2	4	394	1	0	0	0	0	0	0	0	1	11056	813	29	2		2	OR2AG2	11	6789727	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4196413	6789727	128216789	216	75504											
PLEKHA7	144100	broad.mit.edu	37	chr11	16892650	16892650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acataaaaagacttactcttCttgaagaatgaattcactat	17	13	4	7	0	3	4	1	2	2	2	3	4	3	4	0	0	1	0	0	0	8	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:16892650C>T	ENST00000355661.3	-	4	311	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E101K|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E101K			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	101					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ACTTACTCTTCTTGAAGAATG	0.403													3	24					0	0	0	0	T	16892650	C	T	16892650	3	4	394	1	0	0	0	0	1	0	0	0	12133	922	32	2	3144	2	PLEKHA7	11	16892650	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	10102923	16892650	118113866	217	75505											
ANO3	63982	broad.mit.edu	37	chr11	26620493	26620493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctgaaccacatcagccttCctcagacaaagtcactcgtc	12	8	5	16	1	3	2	3	1	0	1	6	2	4	2	4	0	2	0	4	0	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:26620493C>T	ENST00000256737.3	+	16	2471	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	ANO3_ENST00000525139.1_Missense_Mutation_p.S524F|ANO3_ENST00000531568.1_Missense_Mutation_p.S394F|ANO3_ENST00000537978.1_Missense_Mutation_p.S524F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	540						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATCAGCCTTCCTCAGACAAA	0.393													5	17					0	0	0	0	T	26620493	C	T	26620493	3	4	394	1	0	0	0	0	1	0	0	0	697	855	30	2	1681	2	ANO3	11	26620493	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	9727843	26620493	108386023	218	75506											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57081087	57081087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggcctctggagccccctCggcagggagccccgggctgg	3	4	19	15	2	1	0	0	0	1	0	2	2	1	2	5	7	2	2	5	7	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:57081087C>T	ENST00000532437.1	-	4	1386	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E359K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	359	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGAGCCCCCTCGGCAGGGAGC	0.711													3	7					0	0	0	0	T	57081087	C	T	57081087	3	4	394	1	0	0	0	0	1	0	0	0	16414	893	31	1	4142	1	TNKS1BP1	11	57081087	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	30460594	57081087	77925429	219	75507											
OR10Q1	219960	broad.mit.edu	37	chr11	57996198	57996198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgtgtgcacaccacccaGatgatggctgtgttgccaca	8	10	11	12	0	0	2	0	1	0	1	0	2	0	2	3	1	2	3	3	1	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:57996198G>C	ENST00000316770.2	-	1	192	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ACACCACCCAGATGATGGCTG	0.532													4	83					0	0	0	0	C	57996198	G	C	57996198	3	2	394	1	0	0	0	0	1	0	0	0	10987	932	33	2	813	2	OR10Q1	11	57996198	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	915111	57996198	77010318	220	75508											
OR5B3	441608	broad.mit.edu	37	chr11	58170144	58170144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtcccatagaagatgcCgactgcaatgaaatgagagg	16	7	11	7	1	0	4	0	2	0	3	1	6	1	4	2	1	2	1	2	1	6	2	rs147658237	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:58170144C>T	ENST00000309403.2	-	1	738	c.739G>A	c.(739-741)Ggc>Agc	p.G247S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	247			G -> A (in dbSNP:rs11229409).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGAAGATGCCGACTGCAATG	0.428													8	54					0	0	0	0	T	58170144	C	T	58170144	3	4	394	1	0	0	0	0	1	0	0	0	11223	652	23	1	207	1	OR5B3	11	58170144	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	173946	58170144	76836372	221	75509											
AHNAK	79026	broad.mit.edu	37	chr11	62289870	62289870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcctttcagatgcaaatCaaagtcaggcatggagatct	13	9	11	8	0	4	2	3	0	1	2	4	3	4	2	1	3	1	2	1	3	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:62289870C>G	ENST00000378024.4	-	5	12293	c.12019G>C	c.(12019-12021)Gat>Cat	p.D4007H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4007					nervous system development	nucleus	protein binding			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)				AGATGCAAATCAAAGTCAGGC	0.468													62	228					0	0	0	0	G	62289870	C	G	62289870	3	3	394	1	0	0	0	0	1	0	0	0	414	826	29	2	5773	2	AHNAK	11	62289870	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4119726	62289870	72716646	222	75510											
ATG2A	23130	broad.mit.edu	37	chr11	64684600	64684600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgaccatggccacagccatCgtgacatctcggagaccgcc	9	7	10	15	3	1	3	0	2	1	1	3	4	1	3	5	2	1	0	5	2	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:64684600C>G	ENST00000421419.2	-	1	122	c.8G>C	c.(7-9)cGa>cCa	p.R3P	ATG2A_ENST00000377264.3_Missense_Mutation_p.R3P			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	3							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACAGCCATCGTGACATCTC	0.662													5	29					0	0	0	0	G	64684600	C	G	64684600	3	3	394	1	0	0	0	0	1	0	0	0	1097	884	31	3	5972	3	ATG2A	11	64684600	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2394730	64684600	70321916	223	75511											
SF3B2	10992	broad.mit.edu	37	chr11	65827341	65827341	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcaaggccactcggaactCtgtgcctgtgccacgccact	7	8	9	17	2	2	0	1	0	1	0	3	1	2	1	5	2	3	0	5	2	2	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:65827341C>G	ENST00000528302.1	+	12	1493	c.1439C>G	c.(1438-1440)tCt>tGt	p.S480C	SF3B2_ENST00000322535.6_Missense_Mutation_p.S497C			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	497					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						ACTCGGAACTCTGTGCCTGTG	0.577													4	50					0	0	0	0	G	65827341	C	G	65827341	3	3	394	1	0	0	0	0	1	0	0	0	14238	913	32	2	1540	2	SF3B2	11	65827341	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1142741	65827341	69179175	224	75512											
SPTBN2	6712	broad.mit.edu	37	chr11	66456268	66456268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtggctcctggctgcaGagccaggcctctgccatccc	6	7	11	17	0	1	1	0	0	1	1	3	1	3	1	6	3	3	3	6	3	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:66456268G>A	ENST00000533211.1	-	31	6418	c.6087C>T	c.(6085-6087)ctC>ctT	p.L2029L	SPTBN2_ENST00000309996.2_Silent_p.L2029L|SPTBN2_ENST00000529997.1_Silent_p.L2029L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2029					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTGGCTGCAGAGCCAGGCCT	0.607													5	26					0	0	0	0	A	66456268	G	A	66456268	2	1	394	1	0	0	0	0	0	0	0	1	15210	929	33	2		2	SPTBN2	11	66456268	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	628927	66456268	68550248	225	75513											
CCDC77	84318	broad.mit.edu	37	chr12	518584	518584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacacacccctgtctgcaGaaagtaagacatttgcttat	14	10	6	11	0	1	2	0	0	1	2	1	2	1	2	2	0	3	3	2	0	4	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:518584G>A	ENST00000239830.4	+	3	214	c.35G>A	c.(34-36)aGa>aAa	p.R12K	CCDC77_ENST00000540344.1_Intron|CCDC77_ENST00000412006.2_Intron|CCDC77_ENST00000540180.1_Intron|CCDC77_ENST00000422000.1_Intron	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	12						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCTGTCTGCAGAAAGTAAGAC	0.358													10	43					0	0	0	0	A	518584	G	A	518584	3	1	394	1	0	0	0	0	1	0	0	0	2878	942	33	2	37	2	CCDC77	12	518584	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		518584	133333311	226	75514											
VWF	7450	broad.mit.edu	37	chr12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagctcagctgaaagcccGaggggcagacagggacctcc	11	4	13	13	1	1	2	1	1	0	1	2	4	2	3	3	3	4	3	3	3	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:6078430G>A	ENST00000261405.5	-	45	7930	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2559					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.S2559L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592													4	50					0	0	0	0	A	6078430	G	A	6078430	3	1	394	1	0	0	0	0	1	0	0	0	17342	1059	37	1	797	1	VWF	12	6078430	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	5559846	6078430	127773465	227	75515											
WBP11	51729	broad.mit.edu	37	chr12	14946797	14946797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcttatcttgatccatgtCctcaggatagccatcatctt	9	15	6	11	0	4	1	2	1	2	0	6	2	6	2	3	1	2	1	3	1	2	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:14946797C>T	ENST00000261167.2	-	8	1014	c.781G>A	c.(781-783)Gac>Aac	p.D261N	WBP11_ENST00000537574.1_Missense_Mutation_p.D261N	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	261	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGATCCATGTCCTCAGGATAG	0.458													7	130					0	0	0	0	T	14946797	C	T	14946797	3	4	394	1	0	0	0	0	1	0	0	0	17354	855	30	2	1164	2	WBP11	12	14946797	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	8868367	14946797	118905098	228	75516											
LARP4	113251	broad.mit.edu	37	chr12	50860836	50860836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacctggaagttcatcaaGaatgccaggtgaactcgttt	11	13	9	8	1	2	2	2	1	0	1	3	3	2	3	2	2	3	2	2	2	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:50860836G>C	ENST00000398473.2	+	13	1590	c.1478G>C	c.(1477-1479)aGa>aCa	p.R493T	LARP4_ENST00000429001.3_Missense_Mutation_p.R499T|LARP4_ENST00000293618.8_Missense_Mutation_p.R422T|LARP4_ENST00000518444.1_Missense_Mutation_p.R492T|LARP4_ENST00000347328.5_Missense_Mutation_p.R422T	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	493							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGTTCATCAAGAATGCCAGGT	0.398													12	48					0	0	0	0	C	50860836	G	C	50860836	3	2	394	1	0	0	0	0	1	0	0	0	8683	942	33	2	1532	2	LARP4	12	50860836	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	35914039	50860836	82991059	229	75517											
KRT75	9119	broad.mit.edu	37	chr12	52818394	52818394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccggttgctggtggcactGaatccagaacctcccaggcc	7	7	11	16	1	0	2	0	1	0	1	2	2	2	2	6	4	2	3	6	4	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:52818394G>A	ENST00000252245.5	-	9	1783	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	521	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGGTGGCACTGAATCCAGAAC	0.612													42	137					0	0	0	0	A	52818394	G	A	52818394	2	1	394	1	0	0	0	0	0	0	0	1	8540	1281	45	2		2	KRT75	12	52818394	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1957558	52818394	81033501	230	75518											
KRT6B	3854	broad.mit.edu	37	chr12	52845431	52845431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcaggttgaggggagtcagGagactctggttgacagtgac	9	9	17	6	0	2	4	1	3	1	1	2	6	2	5	0	5	1	3	0	5	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:52845431G>A	ENST00000252252.3	-	1	479	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	144	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGGGAGTCAGGAGACTCTGGT	0.622													5	103					0	0	0	0	A	52845431	G	A	52845431	2	1	394	1	0	0	0	0	0	0	0	1	8533	1161	41	2		2	KRT6B	12	52845431	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	27037	52845431	81006464	231	75519											
OR6C76	390326	broad.mit.edu	37	chr12	55820445	55820445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaccatcatgagtgacagGatctgttatcagcttataat	14	12	7	8	0	3	2	2	2	1	0	3	3	3	3	1	1	2	2	1	1	4	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:55820445G>A	ENST00000328314.3	+	1	408	c.408G>A	c.(406-408)agG>agA	p.R136R		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGAGTGACAGGATCTGTTATC	0.453													10	101					0	0	0	0	A	55820445	G	A	55820445	2	1	394	1	0	0	0	0	0	0	0	1	11271	1165	41	2		2	OR6C76	12	55820445	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2975014	55820445	78031450	232	75520											
STAT2	6773	broad.mit.edu	37	chr12	56740310	56740310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggttttcaggtatattctCctcagtgagcaactggtaat	9	15	10	7	0	3	1	2	1	1	0	4	1	3	1	1	3	2	4	1	3	4	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:56740310C>T	ENST00000314128.4	-	21	1983	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.E650K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	654	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GGTATATTCTCCTCAGTGAGC	0.522													11	77					0	0	0	0	T	56740310	C	T	56740310	3	4	394	1	0	0	0	0	1	0	0	0	15355	864	30	2	611	2	STAT2	12	56740310	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	919865	56740310	77111585	233	75521											
NXPH4	11247	broad.mit.edu	37	chr12	57619053	57619053	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtccagcctgggcaacctCagtgtcagcatcgtgccgcc	6	8	11	16	3	2	0	2	0	0	0	5	0	3	0	5	1	4	2	5	1	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:57619053C>T	ENST00000349394.5	+	2	625	c.450C>T	c.(448-450)ctC>ctT	p.L150L	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	150	III.				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGCAACCTCAGTGTCAGCA	0.622													9	110					0	0	0	0	T	57619053	C	T	57619053	2	4	394	1	0	0	0	0	0	0	0	1	10864	813	29	2		2	NXPH4	12	57619053	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	878743	57619053	76232842	234	75522											
DDIT3	1649	broad.mit.edu	37	chr12	57911136	57911136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctcataccaggcttcCagctcccagctggacagtgt	8	9	10	14	0	1	0	1	0	0	0	4	1	4	1	4	3	3	3	4	3	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:57911136C>T	ENST00000551116.1	-	3	390	c.123G>A	c.(121-123)ctG>ctA	p.L41L	DDIT3_ENST00000547303.1_Silent_p.L18L|DDIT3_ENST00000552740.1_Silent_p.L41L|DDIT3_ENST00000346473.3_Silent_p.L18L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	18					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						ACCAGGCTTCCAGCTCCCAGC	0.507			T	FUS	liposarcoma								8	53					0	0	0	0	T	57911136	C	T	57911136	2	4	394	1	0	0	0	0	0	0	0	1	4362	581	21	4		4	DDIT3	12	57911136	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	292083	57911136	75940759	235	75523											
KIF5A	3798	broad.mit.edu	37	chr12	57963439	57963439	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagacgattgcgaagctgGaggctgagctgagccggtgg	9	6	19	7	3	0	3	0	2	0	1	0	7	0	4	1	5	4	3	1	5	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:57963439G>T	ENST00000455537.2	+	11	1364	c.1090G>T	c.(1090-1092)Gag>Tag	p.E364*	KIF5A_ENST00000286452.5_Nonsense_Mutation_p.E275*	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	364					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGCGAAGCTGGAGGCTGAGCT	0.532													4	58					0.00024832	0.000254486	1	0	T	57963439	G	T	57963439	4	4	394	1	0	0	0	0	0	1	0	0	8356	1175	41	2	1132	2	KIF5A	12	57963439	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	52303	57963439	75888456	236	75524											
TMTC2	160335	broad.mit.edu	37	chr12	83290108	83290108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagagaacccagcttccttCtacggagaacattgttgttc	11	11	8	11	1	1	2	0	0	1	2	3	4	2	2	2	1	4	3	2	1	3	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:83290108C>T	ENST00000549919.1	+	4	2953	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	TMTC2_ENST00000321196.3_Missense_Mutation_p.S389F|TMTC2_ENST00000548305.1_Missense_Mutation_p.S389F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	389						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAGCTTCCTTCTACGGAGAAC	0.413													46	129					0	0	0	0	T	83290108	C	T	83290108	3	4	394	1	0	0	0	0	1	0	0	0	16355	913	32	2	1176	2	TMTC2	12	83290108	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	25326669	83290108	50561787	237	75525											
HAL	3034	broad.mit.edu	37	chr12	96388581	96388581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtttgaagcttaccttttCaggctcccggtacttgctgt	5	16	10	10	1	1	1	1	1	0	0	2	1	2	1	2	3	4	5	2	3	3	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:96388581C>T	ENST00000261208.3	-	4	699	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	HAL_ENST00000538703.1_Missense_Mutation_p.E111K|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	111					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTTACCTTTTCAGGCTCCCGG	0.468													6	117					0	0	0	0	T	96388581	C	T	96388581	3	4	394	1	0	0	0	0	1	0	0	0	6997	835	29	2	1714	2	HAL	12	96388581	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	13098473	96388581	37463314	238	75526											
ANO4	121601	broad.mit.edu	37	chr12	101295441	101295441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtttaagtttatctattCatggggctgaaaagcgtttg	10	15	11	5	1	2	1	1	1	1	0	2	1	2	1	0	3	1	4	0	3	5	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:101295441C>T	ENST00000538618.1	+	4	376	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTATCTATTCATGGGGCTGA	0.498										HNSCC(74;0.22)			5	24					0	0	0	0	T	101295441	C	T	101295441	3	4	394	1	0	0	0	0	1	0	0	0	698	841	29	2		2	ANO4	12	101295441	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4906860	101295441	32556454	239	75527											
ALDH1L2	160428	broad.mit.edu	37	chr12	105440679	105440679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactctccttatcttacccGagtggctctttcttggtgaa	6	15	8	12	1	4	1	0	1	4	0	5	2	4	1	2	2	1	2	2	2	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:105440679G>A	ENST00000258494.9	-	14	1895	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	585	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TATCTTACCCGAGTGGCTCTT	0.413													36	141					0	0	0	0	A	105440679	G	A	105440679	2	1	394	1	0	0	0	0	0	0	0	1	495	1045	37	1		1	ALDH1L2	12	105440679	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	4145238	105440679	28411216	240	75528											
GTF2F2	2963	broad.mit.edu	37	chr13	45710916	45710916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaagcctctggaagaggtGaagttgggaaactgcggatt	12	9	14	6	1	1	2	0	1	1	1	1	5	1	5	1	4	3	1	1	4	5	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:45710916G>A	ENST00000340473.6	+	2	256	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	39					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGAAGAGGTGAAGTTGGGAA	0.303													5	39					0	0	0	0	A	45710916	G	A	45710916	3	1	394	1	0	0	0	0	1	0	0	0	6909	1291	45	2	121	2	GTF2F2	13	45710916	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		45710916	69458962	241	75529											
ZC3H13	23091	broad.mit.edu	37	chr13	46619638	46619638	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaccttccttctaatttttGacattttgtactacttcaac	9	19	3	10	0	2	2	1	2	1	0	3	2	3	2	2	0	3	1	2	0	4	10			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:46619638G>C	ENST00000242848.4	-	2	353	c.5C>G	c.(4-6)tCa>tGa	p.S2*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.S2*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	2							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTAATTTTTGACATTTTGTA	0.383													19	92					0	0	0	0	C	46619638	G	C	46619638	4	2	394	1	0	0	0	0	0	1	0	0	17660	1294	45	2	4753	2	ZC3H13	13	46619638	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	908722	46619638	68550240	242	75530											
RB1	5925	broad.mit.edu	37	chr13	48947540	48947540	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctatttttatcccctctaGgactgttatgaacactatcc	9	16	4	12	0	1	1	0	1	1	0	4	2	4	2	4	1	1	1	4	1	6	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:48947540G>A	ENST00000267163.4	+	12	1265		c.e12-1			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.?(7)		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)	ATCCCCTCTAGGACTGTTATG	0.299		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)			18	46					0	0	0	0	A	48947540	G	A	48947540	5	1	394	1	0	0	0	0	0	0	1	0	13180	1014	35	4	1173	4	RB1	13	48947540	Splice_Site	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2327902	48947540	66222338	243	75531											
TBC1D4	9882	broad.mit.edu	37	chr13	76055547	76055547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgctgcgccttgtgctcGaagatgaataccgccgggtt	8	11	12	10	4	0	2	0	1	0	1	1	3	0	2	3	1	4	3	3	1	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:76055547G>T	ENST00000377636.3	-	1	703	c.357C>A	c.(355-357)ttC>ttA	p.F119L	TBC1D4_ENST00000431480.2_Missense_Mutation_p.F119L|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.F119L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	119	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCTTGTGCTCGAAGATGAATA	0.672													23	91					3.08376e-08	3.22587e-08	1	0	T	76055547	G	T	76055547	3	4	394	1	0	0	0	0	1	0	0	0	15716	1049	37	3	3623	3	TBC1D4	13	76055547	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	27108007	76055547	39114331	244	75532											
SCEL	8796	broad.mit.edu	37	chr13	78192194	78192194	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcttagaaacactaatCggtaaatgaccttgactatc	14	11	6	10	1	1	3	0	2	1	1	3	3	1	3	1	1	2	2	1	1	6	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:78192194C>T	ENST00000535157.1	+	25	1671	c.1502_splice	c.e25+1	p.R501_splice	SCEL_ENST00000377246.3_Splice_Site_p.R523_splice|SCEL_ENST00000349847.3_Splice_Site_p.R543_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	543	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAACACTAATCGGTAAATGAC	0.413													4	62					0	0	0	0	T	78192194	C	T	78192194	5	4	394	1	0	0	0	0	0	0	1	0	13974	898	31	1	1729	1	SCEL	13	78192194	Splice_Site	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2136647	78192194	36977684	245	75533											
SLITRK6	84189	broad.mit.edu	37	chr13	86368721	86368721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgctcatctacttgtttCtttttgtatcttctcctgcg	4	22	5	10	1	5	0	1	0	4	0	6	0	5	0	1	0	3	3	1	0	2	8			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:86368721C>G	ENST00000400286.2	-	2	2521	c.1923G>C	c.(1921-1923)aaG>aaC	p.K641N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	641						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTACTTGTTTCTTTTTGTATC	0.413													25	98					0	0	0	0	G	86368721	C	G	86368721	3	3	394	1	0	0	0	0	1	0	0	0	14835	912	32	2	606	2	SLITRK6	13	86368721	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	8176527	86368721	28801157	246	75534											
ZIC2	7546	broad.mit.edu	37	chr13	100637246	100637246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggctgcgaccggcgcttCgccaacagcagcgacaggaa	10	3	15	13	5	0	0	0	0	0	0	1	4	0	1	2	3	4	3	2	3	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:100637246C>T	ENST00000376335.3	+	2	1415	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	374					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCGGCGCTTCGCCAACAGCA	0.617													5	80					0	0	0	0	T	100637246	C	T	100637246	2	4	394	1	0	0	0	0	0	0	0	1	17774	883	31	1		1	ZIC2	13	100637246	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	14268525	100637246	14532632	247	75535											
COL4A2	1284	broad.mit.edu	37	chr13	111142101	111142101	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccaggaagaccaggcctGaagggggagcggggcaccac	11	3	16	11	1	0	2	0	1	0	1	0	4	0	4	4	6	2	1	4	6	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:111142101G>A	ENST00000360467.5	+	36	3621	c.3315G>A	c.(3313-3315)ctG>ctA	p.L1105L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1105	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GACCAGGCCTGAAGGGGGAGC	0.493													9	119					0	0	0	0	A	111142101	G	A	111142101	2	1	394	1	0	0	0	0	0	0	0	1	3720	1277	45	2		2	COL4A2	13	111142101	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	10504855	111142101	4027777	248	75536											
CDC16	8881	broad.mit.edu	37	chr13	115007715	115007715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctactgttttgaagcgttCgatcttttaacatcacatca	10	16	6	9	2	4	1	2	1	2	0	5	2	4	1	0	0	3	2	0	0	3	6	rs145297166		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:115007715C>T	ENST00000360383.3	+	6	699	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CDC16_ENST00000375312.3_Silent_p.F73F|CDC16_ENST00000375308.1_Silent_p.F73F|CDC16_ENST00000252458.6_Silent_p.F73F|CDC16_ENST00000252457.5_Silent_p.F166F|CDC16_ENST00000356221.3_Silent_p.F167F|CDC16_ENST00000375310.1_Silent_p.F73F	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	p.F166F(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTGAAGCGTTCGATCTTTTAA	0.373													8	97					0	0	0	0	T	115007715	C	T	115007715	2	4	394	1	0	0	0	0	0	0	0	1	3087	883	31	1		1	CDC16	13	115007715	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3865614	115007715	162163	249	75537											
OR4N2	390429	broad.mit.edu	37	chr14	20295631	20295631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagcgagaacagaacagtGataagagaattcatcctcct	17	7	9	8	1	1	4	1	1	0	3	3	7	3	4	2	0	3	0	2	0	5	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:20295631G>A	ENST00000315947.1	+	1	24	c.24G>A	c.(22-24)gtG>gtA	p.V8V	OR4N2_ENST00000568211.1_Silent_p.V8V	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGAACAGTGATAAGAGAAT	0.393													16	171					0	0	0	0	A	20295631	G	A	20295631	2	1	394	1	0	0	0	0	0	0	0	1	11148	1277	45	2		2	OR4N2	14	20295631	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		20295631	87053909	250	75538											
LRRC16B	90668	broad.mit.edu	37	chr14	24529918	24529918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcctgtgcaggatgagCtactctacgctcgggacctc	7	9	13	12	2	1	1	0	1	1	0	3	4	1	4	2	3	5	3	2	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:24529918C>A	ENST00000342740.5	+	25	2297	c.2143C>A	c.(2143-2145)Cta>Ata	p.L715I	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	715										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCAGGATGAGCTACTCTACGC	0.627													8	28					5.18039e-06	5.38192e-06	1	0	A	24529918	C	A	24529918	3	1	394	1	0	0	0	0	1	0	0	0	9036	796	28	4	2241	4	LRRC16B	14	24529918	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	4234287	24529918	82819622	251	75539											
MAP4K5	11183	broad.mit.edu	37	chr14	50901765	50901765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccacagaggtatttatgtCccgtgtaagggtttctgact	8	14	10	9	1	1	2	0	1	1	1	3	2	3	2	2	2	0	3	2	2	3	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:50901765C>T	ENST00000013125.4	-	26	2219	c.1901G>A	c.(1900-1902)gGa>gAa	p.G634E		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	634	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GTATTTATGTCCCGTGTAAGG	0.348													11	21					0	0	0	0	T	50901765	C	T	50901765	3	4	394	1	0	0	0	0	1	0	0	0	9332	855	30	2	667	2	MAP4K5	14	50901765	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	26371847	50901765	56447775	252	75540											
SLC35F4	341880	broad.mit.edu	37	chr14	58030987	58030987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaacctcagggtgatttCatcccattcctcaggcaaca	11	10	8	12	0	3	2	3	2	0	0	5	3	5	2	3	2	2	1	3	2	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:58030987C>T	ENST00000556826.1	-	8	1560	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	SLC35F4_ENST00000554729.1_Missense_Mutation_p.E319K|SLC35F4_ENST00000339762.6_Missense_Mutation_p.E478K	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGTGATTTCATCCCATTCC	0.507													4	18					0	0	0	0	T	58030987	C	T	58030987	3	4	394	1	0	0	0	0	1	0	0	0	14679	835	29	2	137	2	SLC35F4	14	58030987	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	7129222	58030987	49318553	253	75541											
DACT1	51339	broad.mit.edu	37	chr14	59113462	59113462	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggggctgtaccccgcGcctgtgcctctgccctacgc	4	9	12	16	3	1	0	0	0	1	0	1	0	1	0	5	2	4	2	5	2	3	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:59113462G>A	ENST00000395153.3	+	4	2157	c.2010G>A	c.(2008-2010)gcG>gcA	p.A670A	DACT1_ENST00000335867.4_Silent_p.A707A|DACT1_ENST00000556859.1_Silent_p.A426A|DACT1_ENST00000541264.2_Silent_p.A426A|DACT1_ENST00000395151.3_Silent_p.A426A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	707					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTACCCCGCGCCTGTGCCTC	0.677													4	39					0	0	0	0	A	59113462	G	A	59113462	2	1	394	1	0	0	0	0	0	0	0	1	4255	1074	38	1		1	DACT1	14	59113462	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1082475	59113462	48236078	254	75542											
SYT16	83851	broad.mit.edu	37	chr14	62547863	62547863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcctgtgctgtccgcttCcgcctgtacgctgcccggaa	3	10	12	16	4	0	0	0	0	0	0	2	1	2	1	5	1	4	5	5	1	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:62547863C>T	ENST00000430451.2	+	4	1502	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	435	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTGTCCGCTTCCGCCTGTACG	0.567													9	20					0	0	0	0	T	62547863	C	T	62547863	2	4	394	1	0	0	0	0	0	0	0	1	15563	854	30	2		2	SYT16	14	62547863	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3434401	62547863	44801677	255	75543											
SYNE2	23224	broad.mit.edu	37	chr14	64626098	64626098	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaggttatcggcaaactCaaaggtctctgcccctctgt	9	10	10	12	1	3	0	1	0	2	0	5	1	3	1	2	4	2	2	2	4	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:64626098C>G	ENST00000357395.3	+	88	16331	c.5187C>G	c.(5185-5187)ctC>ctG	p.L1729L	SYNE2_ENST00000344113.4_Silent_p.L5344L|SYNE2_ENST00000554584.1_Silent_p.L5261L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L1729L|SYNE2_ENST00000358025.3_Silent_p.L5344L|SYNE2_ENST00000555002.1_Silent_p.L1978L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5344					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCGGCAAACTCAAAGGTCTCT	0.383													3	59					0	0	0	0	G	64626098	C	G	64626098	2	3	394	1	0	0	0	0	0	0	0	1	15537	813	29	2		2	SYNE2	14	64626098	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2078235	64626098	42723442	256	75544											
SLC8A3	6547	broad.mit.edu	37	chr14	70634795	70634795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtttctccattgggtttCttaattgtcacctccctctc	4	18	6	13	0	4	0	1	0	3	0	7	0	5	0	3	2	0	2	3	2	1	5	rs144094259		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:70634795C>T	ENST00000381269.2	-	2	1098	c.345G>A	c.(343-345)aaG>aaA	p.K115K	SLC8A3_ENST00000356921.2_Silent_p.K115K|SLC8A3_ENST00000528359.1_Silent_p.K115K|SLC8A3_ENST00000357887.3_Silent_p.K115K|SLC8A3_ENST00000534137.1_Silent_p.K115K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	115					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CATTGGGTTTCTTAATTGTCA	0.493													7	29					0	0	0	0	T	70634795	C	T	70634795	2	4	394	1	0	0	0	0	0	0	0	1	14796	912	32	2		2	SLC8A3	14	70634795	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	6008697	70634795	36714745	257	75545											
SERPINA9	327657	broad.mit.edu	37	chr14	94933618	94933618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccccaaaagcgaactgctCtttctggtgcatcatgggga	10	9	10	12	1	3	0	1	0	2	0	3	2	3	1	2	3	4	2	2	3	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:94933618C>G	ENST00000337425.5	-	3	858	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	SERPINA9_ENST00000448305.2_Missense_Mutation_p.E164Q|SERPINA9_ENST00000546329.1_Missense_Mutation_p.E226Q|SERPINA9_ENST00000298845.7_Missense_Mutation_p.E162Q|SERPINA9_ENST00000380365.3_Missense_Mutation_p.E244Q|SERPINA9_ENST00000424550.2_Missense_Mutation_p.E113Q	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	244					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			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)		GCGAACTGCTCTTTCTGGTGC	0.522													9	22					0	0	0	0	G	94933618	C	G	94933618	3	3	394	1	0	0	0	0	1	0	0	0	14182	922	32	2	535	2	SERPINA9	14	94933618	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	24298823	94933618	12415922	258	75546											
SERPINA12	145264	broad.mit.edu	37	chr14	94964423	94964423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttttctggcatctttctGaagttgaacccctgcttgat	6	18	7	10	0	4	3	0	3	4	0	4	3	4	3	2	1	2	3	2	1	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:94964423G>A	ENST00000341228.2	-	3	1107	c.312C>T	c.(310-312)ttC>ttT	p.F104F	SERPINA12_ENST00000556881.1_Silent_p.F104F	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	104					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCATCTTTCTGAAGTTGAACC	0.522													20	77					0	0	0	0	A	94964423	G	A	94964423	2	1	394	1	0	0	0	0	0	0	0	1	14176	1281	45	2		2	SERPINA12	14	94964423	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	30805	94964423	12385117	259	75547											
C14orf177	283598	broad.mit.edu	37	chr14	99182606	99182606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataagcagggaacaaagccGatgatcacacgcccatcagt	15	5	9	12	2	2	1	2	1	0	0	2	3	2	2	2	1	3	1	2	1	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:99182606G>A	ENST00000325812.2	+	3	497	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	26										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GAACAAAGCCGATGATCACAC	0.552													5	46					0	0	0	0	A	99182606	G	A	99182606	2	1	394	1	0	0	0	0	0	0	0	1	1772	1045	37	1		1	C14orf177	14	99182606	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	4218183	99182606	8166934	260	75548											
DLK1	8788	broad.mit.edu	37	chr14	101200717	101200717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgcccggtgaccaactgCgccagcagcccgtgccagaa	9	3	12	17	4	0	2	0	1	0	1	0	2	0	2	6	1	6	1	6	1	2	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:101200717C>T	ENST00000341267.4	+	5	878	c.636C>T	c.(634-636)tgC>tgT	p.C212C	DLK1_ENST00000331224.6_Silent_p.C212C	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	212	EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGACCAACTGCGCCAGCAGCC	0.657													16	49					0	0	0	0	T	101200717	C	T	101200717	2	4	394	1	0	0	0	0	0	0	0	1	4601	776	27	1		1	DLK1	14	101200717	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2018111	101200717	6148823	261	75549											
DYNC1H1	1778	broad.mit.edu	37	chr14	102445788	102445788	+	Frame_Shift_Del	DEL	T	T	-																															attagcaatgcagtggctccTttttttaagtcctacattag																										TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:102445788delT	ENST00000360184.4	+	3	641	c.477delT	c.(475-477)ccfs	p.P159fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	159	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTGGCTCCTTTTTTTAAGT	0.408													7	145	---	---	---	---					-	102445788	T	-	102445788	7	5	394	1	0	1	0	1	0	0	0	0	4877	1596	56	0	487	0	DYNC1H1	14	102445788	Frame_Shift_Del	DEL	T	TCGA-DQ-7594-01A-11D-2229-08	1245071	102445788	4903752	262	75550											
ZNF839	55778	broad.mit.edu	37	chr14	102792468	102792468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggtggggctccatatCgccagccctcagctgctcag	5	9	12	15	1	2	0	2	0	0	0	4	0	3	0	4	3	4	3	4	3	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:102792468C>T	ENST00000262236.5	+	2	442	c.87C>T	c.(85-87)atC>atT	p.I29I	ZNF839_ENST00000442396.2_Silent_p.I145I|ZNF839_ENST00000559185.1_Silent_p.I29I|ZNF839_ENST00000558850.1_Silent_p.I29I	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	29						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCCATATCGCCAGCCCTC	0.587													4	30					0	0	0	0	T	102792468	C	T	102792468	2	4	394	1	0	0	0	0	0	0	0	1	18281	874	31	1		1	ZNF839	14	102792468	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	346680	102792468	4557072	263	75551											
AHNAK2	113146	broad.mit.edu	37	chr14	105415983	105415983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttccgccttggggcctttCaggtccagcttggcgccctt	3	12	11	15	2	1	0	1	0	0	0	3	0	3	0	5	4	1	1	5	4	0	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:105415983C>T	ENST00000333244.5	-	7	5924	c.5805G>A	c.(5803-5805)ctG>ctA	p.L1935L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1935						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.597													70	268					0	0	0	0	T	105415983	C	T	105415983	2	4	394	1	0	0	0	0	0	0	0	1	415	813	29	2		2	AHNAK2	14	105415983	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2623515	105415983	1933557	264	75552											
JAG2	3714	broad.mit.edu	37	chr14	105609285	105609285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctgcgcggcggcggcGtgaagttcttgcactggtag	4	8	16	13	6	1	1	0	1	1	0	1	1	1	1	2	4	2	3	2	4	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:105609285G>A	ENST00000331782.3	-	26	3867	c.3464C>T	c.(3463-3465)aCg>aTg	p.T1155M	JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1155					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		cggcggcggcgTGAAGTTCTT	0.721													4	29					0	0	0	0	A	105609285	G	A	105609285	3	1	394	1	0	0	0	0	1	0	0	0	7988	1145	40	1	256	1	JAG2	14	105609285	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	193302	105609285	1740255	265	75553											
FRMD5	84978	broad.mit.edu	37	chr15	44166084	44166084	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaggagtcatgccttctCaggtgtcaatgagcaggctc	8	10	14	9	0	3	1	3	1	1	0	5	3	3	3	1	4	2	2	1	4	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:44166084C>T	ENST00000417257.1	-	14	1888	c.1712G>A	c.(1711-1713)tGa>tAa	p.*571*	FRMD5_ENST00000402883.1_Intron|FRMD5_ENST00000484674.1_3'UTR	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	0						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CATGCCTTCTCAGGTGTCAAT	0.532													11	21					0	0	0	0	T	44166084	C	T	44166084	2	4	394	1	0	0	0	0	0	0	0	1	6101	837	29	2		2	FRMD5	15	44166084	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		44166084	58365308	266	75554											
B2M	567	broad.mit.edu	37	chr15	45003747	45003747	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcattcgggccgagatGtctcgctccgtggccttagc	6	9	13	13	4	1	1	0	0	1	1	4	3	2	1	3	2	2	2	3	2	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:45003747G>A	ENST00000558401.1	+	1	73	c.3G>A	c.(1-3)atG>atA	p.M1I	B2M_ENST00000544417.1_Start_Codon_SNP_p.M1I|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1I	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1I(1)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612													24	23					0	0	0	0	A	45003747	G	A	45003747	1	1	394	1	0	0	0	0	0	0	0	0	1248	1377	48	4		4	B2M	15	45003747	Translation_Start_Site	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	837663	45003747	57527645	267	75555											
RNF111	54778	broad.mit.edu	37	chr15	59323531	59323531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacattcccagaccattttGaatgctaaaagtagaagcca	16	9	7	9	0	0	4	0	1	0	3	1	4	1	4	3	0	2	2	3	0	5	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:59323531G>C	ENST00000348370.4	+	2	943	c.510G>C	c.(508-510)ttG>ttC	p.L170F	RNF111_ENST00000557998.1_Missense_Mutation_p.L170F|RNF111_ENST00000434298.1_Missense_Mutation_p.L170F|RNF111_ENST00000561186.1_Missense_Mutation_p.L170F|RNF111_ENST00000559209.1_Missense_Mutation_p.L170F	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	170					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGACCATTTTGAATGCTAAAA	0.413													4	76					0	0	0	0	C	59323531	G	C	59323531	3	2	394	1	0	0	0	0	1	0	0	0	13510	1281	45	2	512	2	RNF111	15	59323531	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	14319784	59323531	43207861	268	75556											
MYO1E	4643	broad.mit.edu	37	chr15	59548551	59548551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattatctgcaagggcataGatatgtggtgggttttcata	11	15	11	4	0	2	1	1	0	1	1	2	1	2	1	0	3	1	3	0	3	6	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:59548551G>C	ENST00000288235.4	-	4	663	c.264C>G	c.(262-264)atC>atG	p.I88M	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	88	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAAGGGCATAGATATGTGGTG	0.323													3	45					0	0	0	0	C	59548551	G	C	59548551	3	2	394	1	0	0	0	0	1	0	0	0	10142	932	33	2	3162	2	MYO1E	15	59548551	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	225020	59548551	42982841	269	75557											
MYO9A	4649	broad.mit.edu	37	chr15	72208801	72208801	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttgtagtgtcagtcttgtCaggtgctttaaagaatttac	9	17	9	6	0	4	1	2	0	2	1	4	1	4	1	0	1	2	2	0	1	5	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:72208801C>G	ENST00000356056.5	-	19	3067	c.2595G>C	c.(2593-2595)ctG>ctC	p.L865L	MYO9A_ENST00000564571.1_Silent_p.L865L|MYO9A_ENST00000424560.1_Silent_p.L865L|MYO9A_ENST00000444904.1_Silent_p.L846L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.L485L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	865					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCAGTCTTGTCAGGTGCTTTA	0.358													20	32					0	0	0	0	G	72208801	C	G	72208801	2	3	394	1	0	0	0	0	0	0	0	1	10154	813	29	2		2	MYO9A	15	72208801	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	12660250	72208801	30322591	270	75558											
TMEM202	338949	broad.mit.edu	37	chr15	72690697	72690697	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggaacatttaaccttgacTttccacagtcctgaggttcc	10	12	8	11	0	0	2	0	2	0	0	3	3	3	3	4	2	2	1	4	2	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:72690697T>C	ENST00000341689.3	+	1	84	c.30T>C	c.(28-30)acT>acC	p.T10T	TMEM202_ENST00000567679.1_Silent_p.T10T	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	10						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TAACCTTGACTTTCCACAGTC	0.448													4	16					0	0	0	0	C	72690697	T	C	72690697	2	2	394	1	0	0	0	0	0	0	0	1	16221	1596	56	5		5	TMEM202	15	72690697	Silent	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	481896	72690697	29840695	271	75559											
MESDC2	23184	broad.mit.edu	37	chr15	81274520	81274520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttcttcaatgtcatcatCtttctatcagattaggggaa	10	16	6	9	0	7	1	4	0	3	1	8	2	8	2	1	2	0	0	1	2	4	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:81274520C>T	ENST00000261758.4	-	2	303	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	73	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						ATGTCATCATCTTTCTATCAG	0.418													4	60					0	0	0	0	T	81274520	C	T	81274520	3	4	394	1	0	0	0	0	1	0	0	0	9550	913	32	2	495	2	MESDC2	15	81274520	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	8583823	81274520	21256872	272	75560											
MESDC1	59274	broad.mit.edu	37	chr15	81294798	81294798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcgcggcccgtgctcttCgagggccccgcctcctctgg	2	7	15	17	5	2	0	0	0	2	0	4	2	3	0	5	4	1	1	5	4	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:81294798C>T	ENST00000267984.2	+	1	1504	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	62										endometrium(1)|lung(2)	3						CCGTGCTCTTCGAGGGCCCCG	0.687													4	16					0	0	0	0	T	81294798	C	T	81294798	2	4	394	1	0	0	0	0	0	0	0	1	9549	883	31	1		1	MESDC1	15	81294798	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	20278	81294798	21236594	273	75561											
TSC2	7249	broad.mit.edu	37	chr16	2134388	2134388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagcaagtccagctcctctCccgagctgcagactctgcag	8	8	10	15	1	2	2	0	1	2	1	5	3	4	2	3	0	5	5	3	0	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:2134388C>T	ENST00000219476.3	+	34	4795	c.4165C>T	c.(4165-4167)Ccc>Tcc	p.P1389S	TSC2_ENST00000439673.2_Missense_Mutation_p.P1286S|TSC2_ENST00000401874.2_Missense_Mutation_p.P1322S|TSC2_ENST00000353929.4_Missense_Mutation_p.P1346S|TSC2_ENST00000382538.6_Missense_Mutation_p.P1274S|TSC2_ENST00000568454.1_Missense_Mutation_p.P1333S|TSC2_ENST00000350773.4_Missense_Mutation_p.P1366S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1389					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCTCCTCTCCCGAGCTGCA	0.682			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				5	19					0	0	0	0	T	2134388	C	T	2134388	3	4	394	1	0	0	0	0	1	0	0	0	16701	855	30	2	4295	2	TSC2	16	2134388	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		2134388	88220365	274	75562											
CREBBP	1387	broad.mit.edu	37	chr16	3778065	3778065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgctggccagggagatgcGaggcctgtggctgtcctgag	5	9	17	10	1	1	2	0	1	1	1	2	4	2	2	3	4	2	2	3	4	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:3778065G>A	ENST00000262367.5	-	31	7792	c.6983C>T	c.(6982-6984)tCg>tTg	p.S2328L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S2290L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2328					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.S2328L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGAGATGCGAGGCCTGTGG	0.627			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						16	77					0	0	0	0	A	3778065	G	A	3778065	3	1	394	1	0	0	0	0	1	0	0	0	3891	1059	37	1	349	1	CREBBP	16	3778065	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1643677	3778065	86576688	275	75563											
CREBBP	1387	broad.mit.edu	37	chr16	3832721	3832721	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcatctgctggtgggtttGaggctgtgctggttgctggc	2	14	16	9	0	2	1	1	1	1	0	2	1	2	1	1	5	3	6	1	5	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:3832721G>A	ENST00000262367.5	-	6	2346	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q475*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	513					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGGGTTTGAGGCTGTGCT	0.567			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						6	92					0	0	0	0	A	3832721	G	A	3832721	4	1	394	1	0	0	0	0	0	1	0	0	3891	1299	45	2	5895	2	CREBBP	16	3832721	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	54656	3832721	86522032	276	75564											
UMOD	7369	broad.mit.edu	37	chr16	20348713	20348713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacatctggacggaaaatCggccctgggaggactcccca	11	5	13	12	2	1	0	0	0	1	0	3	5	2	5	3	6	1	0	3	6	3	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:20348713C>T	ENST00000396134.2	-	9	1862	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q	UMOD_ENST00000396138.4_Missense_Mutation_p.R596Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R547Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R547Q|UMOD_ENST00000570689.1_Missense_Mutation_p.R547Q|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.R580Q	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	547	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.R547Q(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACGGAAAATCGGCCCTGGGA	0.478													9	51					0	0	0	0	T	20348713	C	T	20348713	3	4	394	1	0	0	0	0	1	0	0	0	17075	884	31	1	298	1	UMOD	16	20348713	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	16515992	20348713	70006040	277	75565											
MVP	9961	broad.mit.edu	37	chr16	29858623	29858623	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagcagctggctgaggtgGaggtgaagaagttcaagcag	11	7	16	7	0	2	3	2	2	0	1	2	4	2	4	0	4	3	5	0	4	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:29858623G>T	ENST00000357402.5	+	14	2509	c.2371G>T	c.(2371-2373)Gag>Tag	p.E791*	MVP_ENST00000395353.1_Nonsense_Mutation_p.E791*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	791					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGCTGAGGTGGAGGTGAAGAA	0.612													8	56					5.18039e-06	5.38192e-06	1	0	T	29858623	G	T	29858623	4	4	394	1	0	0	0	0	0	1	0	0	10066	1175	41	2	2421	2	MVP	16	29858623	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	9509910	29858623	60496130	278	75566											
ZFHX3	463	broad.mit.edu	37	chr16	72822226	72822226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gatctggggagcataataagGagaaaagcctggtacaaagt	16	7	13	5	0	1	1	0	0	1	1	1	4	1	2	1	4	3	2	1	4	6	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:72822226G>C	ENST00000268489.5	-	10	10621	c.9949C>G	c.(9949-9951)Cct>Gct	p.P3317A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2403A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3317					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCATAATAAGGAGAAAAGCCT	0.587													16	79					0	0	0	0	C	72822226	G	C	72822226	3	2	394	1	0	0	0	0	1	0	0	0	17729	1174	41	2	1166	2	ZFHX3	16	72822226	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	42963603	72822226	17532527	279	75567											
SPIRE2	84501	broad.mit.edu	37	chr16	89922592	89922592	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatcctggaggagatCaagcaggagcggaggctgcg	12	4	18	7	2	1	3	1	0	0	3	2	8	2	6	1	5	3	2	1	5	2	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:89922592C>A	ENST00000378247.3	+	7	1093	c.1050C>A	c.(1048-1050)atC>atA	p.I350I	SPIRE2_ENST00000393062.2_Silent_p.I350I	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	350	WH2 3.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGGAGGAGATCAAGCAGGAGC	0.692													7	17					8.12818e-05	8.38681e-05	1	0	A	89922592	C	A	89922592	2	1	394	1	0	0	0	0	0	0	0	1	15162	816	29	2		2	SPIRE2	16	89922592	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	17100366	89922592	432161	280	75568											
GEMIN4	50628	broad.mit.edu	37	chr17	650962	650962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgaagaggatggtgtggttGatggtggggatcatgttgcc	7	12	18	4	1	1	2	1	1	0	1	2	5	1	4	1	6	1	2	1	6	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:650962G>C	ENST00000576778.1	-	1	1629	c.288C>G	c.(286-288)atC>atG	p.I96M	GEMIN4_ENST00000437269.1_Missense_Mutation_p.I107M|GEMIN4_ENST00000319004.5_Missense_Mutation_p.I107M			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	107					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGTGTGGTTGATGGTGGGGA	0.592													11	31					0	0	0	0	C	650962	G	C	650962	3	2	394	1	0	0	0	0	1	0	0	0	6381	1280	45	2	2859	2	GEMIN4	17	650962	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		650962	80544248	281	75569											
WDR81	124997	broad.mit.edu	37	chr17	1635706	1635706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgcgcattggacaggaGatggtccagcagcacctgag	9	7	14	11	1	0	2	0	1	0	1	1	4	1	3	3	3	4	3	3	3	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:1635706G>A	ENST00000409644.1	+	5	4245	c.4245G>A	c.(4243-4245)gaG>gaA	p.E1415E	WDR81_ENST00000446363.1_Silent_p.E54E|WDR81_ENST00000437219.2_Silent_p.E212E|WDR81_ENST00000309182.5_Silent_p.E364E|WDR81_ENST00000545662.1_Silent_p.E46E|WDR81_ENST00000419248.1_Silent_p.E188E|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	188										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTGGACAGGAGATGGTCCAGC	0.602													16	66					0	0	0	0	A	1635706	G	A	1635706	2	1	394	1	0	0	0	0	0	0	0	1	17426	933	33	2		2	WDR81	17	1635706	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	984744	1635706	79559504	282	75570											
TRPV1	7442	broad.mit.edu	37	chr17	3474881	3474881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacagttgcccgggtcttCgttgatgatgcccacgttgg	5	12	12	12	3	2	2	1	2	1	0	3	2	2	2	2	2	2	3	2	2	0	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:3474881C>T	ENST00000174621.6	-	14	2567	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	TRPV1_ENST00000399759.3_Missense_Mutation_p.E762K|TRPV1_ENST00000310522.5_Missense_Mutation_p.E702K|TRPV1_ENST00000576351.1_Missense_Mutation_p.E752K|TRPV1_ENST00000571088.1_Missense_Mutation_p.E762K|TRPV1_ENST00000399756.4_Missense_Mutation_p.E762K|TRPV1_ENST00000425167.2_Missense_Mutation_p.E773K|SHPK_ENST00000572705.1_Missense_Mutation_p.E762K			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	762					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCCGGGTCTTCGTTGATGATG	0.647													3	19					0	0	0	0	T	3474881	C	T	3474881	3	4	394	1	0	0	0	0	1	0	0	0	16690	893	31	1	243	1	TRPV1	17	3474881	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1839175	3474881	77720329	283	75571											
ARRB2	409	broad.mit.edu	37	chr17	4623745	4623745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaagccccacgaccacatCcccctccccagaccccagtc	9	3	4	25	1	0	1	0	0	0	1	3	2	2	1	10	0	1	0	10	0	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:4623745C>T	ENST00000575877.1	+	13	951	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	ARRB2_ENST00000269260.2_Silent_p.I353I|ARRB2_ENST00000412477.3_Silent_p.I374I|ARRB2_ENST00000346341.2_Silent_p.I338I|ARRB2_ENST00000381488.6_Silent_p.I338I|ARRB2_ENST00000571206.1_Silent_p.I161I|ARRB2_ENST00000572457.1_Silent_p.I161I|ARRB2_ENST00000574954.1_Silent_p.I161I	NM_001257329.1	NP_001244258.1	P32121	ARRB2_HUMAN	arrestin, beta 2	183	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACGACCACATCCCCCTCCCCA	0.622													9	129					0	0	0	0	T	4623745	C	T	4623745	3	4	394	1	0	0	0	0	1	0	0	0	985	845	30	2	1109	2	ARRB2	17	4623745	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1148864	4623745	76571465	284	75572											
ZNF594	84622	broad.mit.edu	37	chr17	5086741	5086741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgaacatctgtccacagtCataacattcatagggtttct	12	13	6	10	0	4	1	2	1	2	0	5	1	5	1	1	1	2	1	1	1	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:5086741C>G	ENST00000399604.4	-	1	951	c.811G>C	c.(811-813)Gac>Cac	p.D271H	ZNF594_ENST00000575779.1_Missense_Mutation_p.D271H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCCACAGTCATAACATTCA	0.393													17	85					0	0	0	0	G	5086741	C	G	5086741	3	3	394	1	0	0	0	0	1	0	0	0	18119	826	29	2	1616	2	ZNF594	17	5086741	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	462996	5086741	76108469	285	75573											
SLC16A13	201232	broad.mit.edu	37	chr17	6940071	6940071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaggcagtgccctgagcacGaagttcgggcccaggcccgt	7	6	15	13	3	0	1	0	1	0	0	1	2	0	1	3	3	2	4	3	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:6940071G>A	ENST00000308027.6	+	2	533	c.225G>A	c.(223-225)acG>acA	p.T75T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	75						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCCTGAGCACGAAGTTCGGGC	0.642													18	139					0	0	0	0	A	6940071	G	A	6940071	2	1	394	1	0	0	0	0	0	0	0	1	14494	1045	37	1		1	SLC16A13	17	6940071	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1853330	6940071	74255139	286	75574											
MYH2	4620	broad.mit.edu	37	chr17	10429087	10429087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacatcaagcatgaggtcctCgacctcattctgcagccgct	9	9	8	15	2	3	1	2	1	1	0	5	2	4	1	3	1	3	3	3	1	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:10429087C>T	ENST00000245503.5	-	31	4678	c.4294G>A	c.(4294-4296)Gag>Aag	p.E1432K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1432K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1432					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1432Q(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						ATGAGGTCCTCGACCTCATTC	0.542													25	96					0	0	0	0	T	10429087	C	T	10429087	3	4	394	1	0	0	0	0	1	0	0	0	10105	893	31	1	1571	1	MYH2	17	10429087	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3489016	10429087	70766123	287	75575											
COX10	1352	broad.mit.edu	37	chr17	14110529	14110529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagggccccctcccagctGagagcactgggacgcccacc	7	3	12	19	2	0	1	0	1	0	1	1	3	1	2	5	2	2	3	5	2	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:14110529G>A	ENST00000261643.3	+	7	1408	c.1331G>A	c.(1330-1332)tGa>tAa	p.*444*	COX10_ENST00000536205.1_Silent_p.*252*|COX10_ENST00000537334.1_Silent_p.*227*	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	0					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCTCCCAGCTGAGAGCACTGG	0.622													8	15					0	0	0	0	A	14110529	G	A	14110529	2	1	394	1	0	0	0	0	0	0	0	1	3792	1285	45	2		2	COX10	17	14110529	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3681442	14110529	67084681	288	75576											
ZNF624	57547	broad.mit.edu	37	chr17	16525917	16525917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaggtaagaacccctcctGaaggcttttccacagacatc	12	9	8	12	0	0	3	0	1	0	2	3	3	2	3	4	2	1	3	4	2	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:16525917G>A	ENST00000311331.7	-	6	2374	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AACCCCTCCTGAAGGCTTTTC	0.443													16	75					0	0	0	0	A	16525917	G	A	16525917	2	1	394	1	0	0	0	0	0	0	0	1	18143	1281	45	2		2	ZNF624	17	16525917	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2415388	16525917	64669293	289	75577											
MYO15A	51168	broad.mit.edu	37	chr17	18023548	18023548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctcatccgcaagttccgCctcttcccgcgaccccaggt	5	9	7	20	4	2	0	1	0	1	0	6	1	6	0	7	1	0	2	7	1	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:18023548C>T	ENST00000205890.5	+	2	1772	c.1434C>T	c.(1432-1434)cgC>cgT	p.R478R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	478	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCAAGTTCCGCCTCTTCCCGC	0.647													7	36					0	0	0	0	T	18023548	C	T	18023548	2	4	394	1	0	0	0	0	0	0	0	1	10133	726	26	4		4	MYO15A	17	18023548	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1497631	18023548	63171662	290	75578											
NOS2	4843	broad.mit.edu	37	chr17	26116686	26116686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgcttgctgaggttgtGatactgaaggtcatcctgtg	6	14	13	8	0	1	3	1	3	0	0	2	3	2	3	1	2	4	4	1	2	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:26116686G>A	ENST00000313735.6	-	3	372	c.139C>T	c.(139-141)Cac>Tac	p.H47Y		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	47					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTGAGGTTGTGATACTGAAGG	0.567													7	73					0	0	0	0	A	26116686	G	A	26116686	3	1	394	1	0	0	0	0	1	0	0	0	10613	1290	45	2	3422	2	NOS2	17	26116686	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	8093138	26116686	55078524	291	75579											
SPAG5	10615	broad.mit.edu	37	chr17	26906474	26906474	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtcataatactcatttCtgccaggctctcctccatgc	9	13	6	13	0	4	0	2	0	2	0	6	0	5	0	3	1	3	2	3	1	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:26906474C>A	ENST00000321765.5	-	18	3246	c.2914G>T	c.(2914-2916)Gaa>Taa	p.E972*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	972					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATACTCATTTCTGCCAGGCTC	0.483													6	129					0.217242	0.217722	1	0	A	26906474	C	A	26906474	4	1	394	1	0	0	0	0	0	1	0	0	15071	922	32	2	695	2	SPAG5	17	26906474	Nonsense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	789788	26906474	54288736	292	75580											
SEZ6	124925	broad.mit.edu	37	chr17	27308602	27308602	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtgtagtgctggctaTctcccctgggcctagggtgg	3	10	19	9	0	1	0	0	0	1	0	2	0	1	0	3	7	1	3	3	7	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:27308602T>A	ENST00000317338.12	-	2	939	c.511A>T	c.(511-513)Ata>Tta	p.I171L	SEZ6_ENST00000335960.6_Missense_Mutation_p.I171L|SEZ6_ENST00000442608.3_Missense_Mutation_p.I171L|SEZ6_ENST00000360295.9_Missense_Mutation_p.I171L|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	171	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGCTGGCTATCTCCCCTGGG	0.647													4	17					0	0	0	0	A	27308602	T	A	27308602	3	1	394	1	0	0	0	0	1	0	0	0	14229	1435	50	5	2550	5	SEZ6	17	27308602	Missense_Mutation	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	402128	27308602	53886608	293	75581											
NF1	4763	broad.mit.edu	37	chr17	29490318	29490318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagcatgcagctgaacttCggaattctgcctctggggtt	8	11	11	11	1	2	1	0	1	2	0	3	2	2	2	2	3	5	4	2	3	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:29490318C>T	ENST00000358273.4	+	4	786	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	NF1_ENST00000356175.3_Missense_Mutation_p.R135W|NF1_ENST00000431387.4_Missense_Mutation_p.R135W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	135					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.?(4)|p.L134fs*19(1)|p.R135fs*30(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCTGAACTTCGGAATTCTGC	0.438			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	40					0	0	0	0	T	29490318	C	T	29490318	3	4	394	1	0	0	0	0	1	0	0	0	10426	875	31	1	417	1	NF1	17	29490318	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2181716	29490318	51704892	294	75582											
PSMD11	5717	broad.mit.edu	37	chr17	30806361	30806361	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttactagaacagaatctGatccgagtcattgagccttt	13	12	7	9	1	2	4	1	2	1	2	3	5	3	4	2	0	4	0	2	0	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:30806361G>A	ENST00000261712.3	+	10	1268	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	PSMD11_ENST00000457654.2_Silent_p.L335L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	335	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AACAGAATCTGATCCGAGTCA	0.512													7	126					0	0	0	0	A	30806361	G	A	30806361	2	1	394	1	0	0	0	0	0	0	0	1	12773	1277	45	2		2	PSMD11	17	30806361	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1316043	30806361	50388849	295	75583											
SLFN11	91607	broad.mit.edu	37	chr17	33679684	33679684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaatagcccctatcaaaGaagcgcctgcacgtgtctgc	11	7	11	12	2	2	2	1	0	1	2	2	3	2	2	3	1	4	1	3	1	5	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:33679684G>C	ENST00000394566.1	-	7	2669	c.2397C>G	c.(2395-2397)ttC>ttG	p.F799L	SLFN11_ENST00000308377.4_Missense_Mutation_p.F799L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	799						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCTATCAAAGAAGCGCCTGC	0.468													3	54					0	0	0	0	C	33679684	G	C	33679684	3	2	394	1	0	0	0	0	1	0	0	0	14821	933	33	2	312	2	SLFN11	17	33679684	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2873323	33679684	47515526	296	75584											
DHRS11	79154	broad.mit.edu	37	chr17	34955437	34955437	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgcgctgacagagggactGaggcaagagcttcgggaggc	10	5	17	9	2	0	4	0	2	0	2	1	6	0	6	0	4	2	3	0	4	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:34955437G>C	ENST00000251312.5	+	4	752	c.540G>C	c.(538-540)ctG>ctC	p.L180L	DHRS11_ENST00000590554.1_Silent_p.L101L	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	180						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CAGAGGGACTGAGGCAAGAGC	0.642													3	64					0	0	0	0	C	34955437	G	C	34955437	2	2	394	1	0	0	0	0	0	0	0	1	4524	1277	45	2		2	DHRS11	17	34955437	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1275753	34955437	46239773	297	75585											
STARD3	10948	broad.mit.edu	37	chr17	37813286	37813286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcatccgtaagaactTggagcaggagatcatccagt	13	7	11	10	1	1	2	1	0	0	2	3	4	3	3	2	3	2	3	2	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:37813286T>G	ENST00000336308.5	+	3	463	c.245T>G	c.(244-246)tTg>tGg	p.L82W	STARD3_ENST00000544210.2_Missense_Mutation_p.L82W|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Intron|STARD3_ENST00000394250.4_Missense_Mutation_p.L82W	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	82	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTAAGAACTTGGAGCAGGAG	0.572													9	75					0	0	0	0	G	37813286	T	G	37813286	3	3	394	1	0	0	0	0	1	0	0	0	15347	1821	63	5	251	5	STARD3	17	37813286	Missense_Mutation	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	2857849	37813286	43381924	298	75586											
STARD3	10948	broad.mit.edu	37	chr17	37813326	37813326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaactttaaaacttccttCttcgacatctttgtgagtgg	10	16	6	9	1	2	1	0	1	2	0	4	2	3	1	1	1	3	0	1	1	4	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:37813326C>T	ENST00000336308.5	+	3	503	c.285C>T	c.(283-285)ttC>ttT	p.F95F	STARD3_ENST00000544210.2_Silent_p.F95F|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Intron|STARD3_ENST00000394250.4_Silent_p.F95F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	95	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAACTTCCTTCTTCGACATCT	0.517													8	74					0	0	0	0	T	37813326	C	T	37813326	2	4	394	1	0	0	0	0	0	0	0	1	15347	912	32	2		2	STARD3	17	37813326	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	40	37813326	43381884	299	75587											
KRT23	25984	broad.mit.edu	37	chr17	39092740	39092740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagggagatgcgggctcccCccgcaccgccatggacggtg	7	4	15	15	4	0	1	0	0	0	1	1	3	1	2	5	4	1	2	5	4	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:39092740C>T	ENST00000209718.3	-	2	540	c.116G>A	c.(115-117)gGg>gAg	p.G39E	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	39	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCGGGCTCCCCCCGCACCGCC	0.701													20	57					0	0	0	0	T	39092740	C	T	39092740	3	4	394	1	0	0	0	0	1	0	0	0	8512	623	22	4	1184	4	KRT23	17	39092740	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1279414	39092740	42102470	300	75588											
SLC4A1	6521	broad.mit.edu	37	chr17	42335514	42335514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccccgaagagctggcctgtCtgctgcagagggtcatctgg	6	8	14	13	1	3	2	1	0	2	2	3	3	3	2	3	3	3	3	3	3	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:42335514C>T	ENST00000262418.6	-	11	1277	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	374					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTGGCCTGTCTGCTGCAGAG	0.602													4	128					0	0	0	0	T	42335514	C	T	42335514	2	4	394	1	0	0	0	0	0	0	0	1	14738	912	32	2		2	SLC4A1	17	42335514	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3242774	42335514	38859696	301	75589											
COPZ2	51226	broad.mit.edu	37	chr17	46103842	46103842	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggcagactgaagaacCtggggtggggtgggggaggt	7	8	20	6	0	0	3	0	1	0	2	1	4	1	4	2	8	1	1	2	8	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:46103842C>T	ENST00000006101.4	-	10	579		c.e10-1		COPZ2_ENST00000584666.1_Splice_Site	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2						intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						ACTGAAGAACCTGGGGTGGGG	0.537											OREG0024510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	0	0	T	46103842	C	T	46103842	5	4	394	1	0	0	0	0	0	0	1	0	3772	695	24	4	51	4	COPZ2	17	46103842	Splice_Site	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3768328	46103842	35091368	302	75590											
FTSJ3	117246	broad.mit.edu	37	chr17	61901285	61901285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacgctcccgctgctttctCtgctcacgcaacagcttctt	6	12	6	17	3	3	0	1	0	2	0	5	0	4	0	1	0	4	6	1	0	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:61901285C>T	ENST00000427159.2	-	13	1827	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	394					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGCTTTCTCTGCTCACGCA	0.542													6	63					0	0	0	0	T	61901285	C	T	61901285	2	4	394	1	0	0	0	0	0	0	0	1	6137	912	32	2		2	FTSJ3	17	61901285	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	15797443	61901285	19293925	303	75591											
CSH2	1443	broad.mit.edu	37	chr17	61949591	61949591	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagcagcccgtagttcttGagcagtgcgtcatggttgtg	7	12	14	8	2	2	2	1	1	1	1	2	2	2	2	1	1	4	5	1	1	2	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:61949591G>C	ENST00000392886.2	-	5	700	c.549C>G	c.(547-549)ctC>ctG	p.L183L	CSH2_ENST00000345366.7_Silent_p.L88L|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.L126L	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	183					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CGTAGTTCTTGAGCAGTGCGT	0.562													4	183					0	0	0	0	C	61949591	G	C	61949591	2	2	394	1	0	0	0	0	0	0	0	1	3973	1277	45	2		2	CSH2	17	61949591	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	48306	61949591	19245619	304	75592											
ZNF750	79755	broad.mit.edu	37	chr17	80790328	80790328	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccgctctttgaggagactCattttcctccttatgccttg	5	17	7	12	1	2	2	1	1	1	1	5	3	5	2	4	1	1	1	4	1	1	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:80790328C>T	ENST00000269394.3	-	2	836	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	1						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGGAGACTCATTTTCCTCC	0.512													14	34					0	0	0	0	T	80790328	C	T	80790328	1	4	394	1	0	0	0	0	0	0	0	0	18226	826	29	2		2	ZNF750	17	80790328	Translation_Start_Site	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	18840737	80790328	404882	305	75593											
DLGAP1	9229	broad.mit.edu	37	chr18	3879247	3879247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaccaggcgctcttcttCagcagcggggtgtccaggct	6	8	15	12	2	3	0	1	0	2	0	4	2	4	1	2	5	2	3	2	5	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:3879247C>T	ENST00000315677.3	-	4	1417	c.822G>A	c.(820-822)ctG>ctA	p.L274L	DLGAP1_ENST00000581527.1_Silent_p.L274L|DLGAP1_ENST00000584874.1_Silent_p.L274L|DLGAP1_ENST00000515196.2_Silent_p.L274L|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	274					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCTCTTCTTCAGCAGCGGGG	0.647													14	47					0	0	0	0	T	3879247	C	T	3879247	2	4	394	1	0	0	0	0	0	0	0	1	4596	813	29	2		2	DLGAP1	18	3879247	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		3879247	74198001	306	75594											
TMEM200C	645369	broad.mit.edu	37	chr18	5890549	5890549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgcaggggtggcgaggggGaggcggccttggccagaggg	5	3	24	9	3	0	1	0	0	0	1	0	3	0	2	3	9	0	1	3	9	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:5890549G>T	ENST00000581347.1	-	3	2159	c.1514C>A	c.(1513-1515)tCc>tAc	p.S505Y	TMEM200C_ENST00000383490.2_Missense_Mutation_p.S505Y|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	505	Pro-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGGCGAGGGGGAGGCGGCCTT	0.751													4	7					0.00024832	0.000254486	1	0	T	5890549	G	T	5890549	3	4	394	1	0	0	0	0	1	0	0	0	16219	1174	41	2	355	2	TMEM200C	18	5890549	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2011302	5890549	72186699	307	75595											
IMPA2	3613	broad.mit.edu	37	chr18	12012168	12012168	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttctattttcctttgcaGattcccgactgtggcggtta	5	17	8	11	2	1	1	0	0	1	1	3	2	3	1	3	2	1	2	3	2	2	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:12012168G>A	ENST00000269159.3	+	4	577		c.e4-1		IMPA2_ENST00000588752.1_Splice_Site|IMPA2_ENST00000589238.1_Splice_Site|IMPA2_ENST00000588927.1_Splice_Site	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2						inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTCCTTTGCAGATTCCCGACT	0.602													6	129					0	0	0	0	A	12012168	G	A	12012168	5	1	394	1	0	0	0	0	0	0	1	0	7776	956	33	2	349	2	IMPA2	18	12012168	Splice_Site	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	6121619	12012168	66065080	308	75596											
DTNA	1837	broad.mit.edu	37	chr18	32400877	32400877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactcaacttggctcacatCgtgtgagtatccctaccctc	8	11	6	16	1	2	1	2	1	0	0	5	1	3	1	3	1	2	2	3	1	3	3	rs61737438	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:32400877C>T	ENST00000283365.9	+	10	1350	c.999C>T	c.(997-999)atC>atT	p.I333I	DTNA_ENST00000444659.1_Silent_p.I333I|DTNA_ENST00000399121.5_Silent_p.I333I|DTNA_ENST00000598142.1_Silent_p.I333I|DTNA_ENST00000399113.3_Silent_p.I333I|DTNA_ENST00000554864.3_Silent_p.I333I|DTNA_ENST00000595022.1_Silent_p.I333I|DTNA_ENST00000269192.7_Silent_p.I15I|DTNA_ENST00000597674.1_Silent_p.I15I|DTNA_ENST00000399097.3_Silent_p.I15I|DTNA_ENST00000599844.1_Silent_p.I15I|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Silent_p.I15I|DTNA_ENST00000315456.6_Silent_p.I333I|DTNA_ENST00000269191.6_Silent_p.I333I|DTNA_ENST00000591182.1_Silent_p.I15I|DTNA_ENST00000597599.1_Silent_p.I333I|DTNA_ENST00000556414.3_Silent_p.I15I|DTNA_ENST00000348997.5_Silent_p.I333I|DTNA_ENST00000269190.7_Silent_p.I333I|DTNA_ENST00000598334.1_Silent_p.I333I|DTNA_ENST00000598774.1_Silent_p.I333I	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	333					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TGGCTCACATCGTGTGAGTAT	0.493													10	56					0	0	0	0	T	32400877	C	T	32400877	2	4	394	1	0	0	0	0	0	0	0	1	4824	874	31	1		1	DTNA	18	32400877	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	20388709	32400877	45676371	309	75597											
CELF4	56853	broad.mit.edu	37	chr18	34850866	34850866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctggtgcagtgatgcccgGaggggtgctgccacctggtt	4	9	18	10	1	0	1	0	1	0	0	0	2	0	2	3	6	4	4	3	6	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:34850866G>A	ENST00000420428.2	-	8	1359	c.964C>T	c.(964-966)Ccg>Tcg	p.P322S	CELF4_ENST00000412753.1_Missense_Mutation_p.P321S|CELF4_ENST00000588597.1_Missense_Mutation_p.P311S|CELF4_ENST00000334919.5_Missense_Mutation_p.P312S|CELF4_ENST00000603232.1_Missense_Mutation_p.P321S|CELF4_ENST00000591282.1_Missense_Mutation_p.P322S|CELF4_ENST00000601019.1_Missense_Mutation_p.P320S|CELF4_ENST00000361795.5_Missense_Mutation_p.P320S|CELF4_ENST00000591287.1_Missense_Mutation_p.P321S	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	322					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			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						GTGATGCCCGGAGGGGTGCTG	0.622													9	18					0	0	0	0	A	34850866	G	A	34850866	3	1	394	1	0	0	0	0	1	0	0	0	3247	1174	41	2	516	2	CELF4	18	34850866	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2449989	34850866	43226382	310	75598											
MRO	83876	broad.mit.edu	37	chr18	48333167	48333167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagctctttctgccaagatGaaaaacacattcttcagagg	13	10	8	10	1	4	3	1	1	3	2	4	4	4	3	1	1	3	1	1	1	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:48333167G>A	ENST00000428869.2	-	5	411	c.153C>T	c.(151-153)ttC>ttT	p.F51F	MRO_ENST00000588444.1_Silent_p.F51F|MRO_ENST00000398439.3_Silent_p.F51F|MRO_ENST00000436348.2_Silent_p.F65F|MRO_ENST00000431965.2_Silent_p.F65F|MRO_ENST00000256425.2_Silent_p.F51F|MRO_ENST00000587291.1_Intron			Q9BYG7	MSTRO_HUMAN	maestro	51						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGCCAAGATGAAAAACACAT	0.483													10	164					0	0	0	0	A	48333167	G	A	48333167	2	1	394	1	0	0	0	0	0	0	0	1	9842	1281	45	2		2	MRO	18	48333167	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	13482301	48333167	29744081	311	75599											
TCF4	6925	broad.mit.edu	37	chr18	52901891	52901891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcctctcagggccacGccatcttcacgatgggtccc	5	9	11	16	2	3	0	2	0	2	0	5	1	4	0	4	3	1	1	4	3	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:52901891G>A	ENST00000354452.3	-	16	1985	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	TCF4_ENST00000540999.1_Silent_p.G434G|TCF4_ENST00000565018.2_Silent_p.G458G|TCF4_ENST00000398339.1_Silent_p.G560G|TCF4_ENST00000564999.1_Silent_p.G458G|TCF4_ENST00000543082.1_Silent_p.G416G|TCF4_ENST00000564228.1_Silent_p.G387G|TCF4_ENST00000566279.1_Silent_p.G398G|TCF4_ENST00000567880.1_Silent_p.G398G|TCF4_ENST00000568673.1_Silent_p.G434G|TCF4_ENST00000537856.3_Silent_p.G328G|TCF4_ENST00000537578.1_Silent_p.G434G|TCF4_ENST00000561831.3_Silent_p.G298G|TCF4_ENST00000570287.2_Silent_p.G298G|TCF4_ENST00000561992.1_Silent_p.G328G|TCF4_ENST00000356073.4_Silent_p.G458G|TCF4_ENST00000568740.1_Silent_p.G433G|TCF4_ENST00000570177.2_Silent_p.G328G|TCF4_ENST00000564403.2_Silent_p.G464G|TCF4_ENST00000566286.1_Silent_p.G455G|TCF4_ENST00000457482.3_Silent_p.G298G|TCF4_ENST00000544241.2_Silent_p.G387G	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	458					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCAGGGCCACGCCATCTTCAC	0.602											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	0	0	A	52901891	G	A	52901891	2	1	394	1	0	0	0	0	0	0	0	1	15789	1074	38	1		1	TCF4	18	52901891	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	4568724	52901891	25175357	312	75600											
ZNF516	9658	broad.mit.edu	37	chr18	74154938	74154938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccttgtccccatccacctCgtggccccggccggccctgg	3	7	11	20	3	0	0	0	0	0	0	3	0	2	0	9	4	1	0	9	4	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:74154938C>T	ENST00000443185.2	-	3	390	c.73G>A	c.(73-75)Gag>Aag	p.E25K	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCATCCACCTCGTGGCCCCGG	0.687													5	12					0	0	0	0	T	74154938	C	T	74154938	3	4	394	1	0	0	0	0	1	0	0	0	18055	893	31	1	3439	1	ZNF516	18	74154938	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	21253047	74154938	3922310	313	75601											
MBP	4155	broad.mit.edu	37	chr18	74696844	74696844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatcctggtctctggccttCggccccctgcaagagaagac	9	8	10	14	1	1	2	0	0	1	2	4	3	2	2	4	3	1	1	4	3	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:74696844C>T	ENST00000355994.2	-	8	1020	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	MBP_ENST00000359645.3_Missense_Mutation_p.E135K|MBP_ENST00000397865.5_Missense_Mutation_p.E109K|MBP_ENST00000397875.3_Missense_Mutation_p.E130K|MBP_ENST00000382582.3_Missense_Mutation_p.E146K|MBP_ENST00000528160.1_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.E120K|MBP_ENST00000397869.3_Missense_Mutation_p.E185K|MBP_ENST00000527041.1_Intron|MBP_ENST00000526111.1_Missense_Mutation_p.E98K|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.E253K|MBP_ENST00000579129.1_Intron|MBP_ENST00000397866.4_Missense_Mutation_p.E120K	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	253	Induces experimental autoimmune encephalomyelitis (EAE) 2.				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			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)		CTCTGGCCTTCGGCCCCCTGC	0.637													5	55					0	0	0	0	T	74696844	C	T	74696844	3	4	394	1	0	0	0	0	1	0	0	0	9428	893	31	1	165	1	MBP	18	74696844	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	541906	74696844	3380404	314	75602											
CIRBP	1153	broad.mit.edu	37	chr19	1271376	1271376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggcaggcaagtcgtcaGacaaccgatcccgtgggtac	11	5	12	13	3	1	1	1	0	0	1	3	2	2	1	3	3	2	3	3	3	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:1271376G>A	ENST00000444172.2	+	3	234	c.100G>A	c.(100-102)Gac>Aac	p.D34N	CIRBP_ENST00000589660.1_Missense_Mutation_p.D87N|CIRBP_ENST00000591935.1_Missense_Mutation_p.D87N|CIRBP_ENST00000587896.1_Missense_Mutation_p.D87N|CIRBP_ENST00000587323.1_Missense_Mutation_p.D87N|CIRBP_ENST00000586773.1_Missense_Mutation_p.D87N|CIRBP_ENST00000588230.1_Missense_Mutation_p.D87N|CIRBP_ENST00000586472.1_Missense_Mutation_p.D87N|CIRBP_ENST00000589686.1_Missense_Mutation_p.D87N|CIRBP_ENST00000320936.5_Missense_Mutation_p.D87N|CIRBP_ENST00000585630.1_Missense_Mutation_p.D87N|CIRBP_ENST00000588030.1_Missense_Mutation_p.D87N|CIRBP_ENST00000588090.1_Missense_Mutation_p.D87N|CIRBP_ENST00000413636.2_Intron|CIRBP_ENST00000589710.1_Missense_Mutation_p.D87N|CIRBP_ENST00000589235.1_Missense_Mutation_p.D87N			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	87	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CAAGTCGTCAGACAACCGATC	0.662													6	142					0	0	0	0	A	1271376	G	A	1271376	3	1	394	1	0	0	0	0	1	0	0	0	3462	942	33	2	269	2	CIRBP	19	1271376	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		1271376	57857607	315	75603											
SPPL2B	56928	broad.mit.edu	37	chr19	2344593	2344593	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggctgaactcctcacctCtggccctgtgtgaccggccc	5	8	10	18	1	2	2	1	2	1	0	3	2	3	2	6	3	1	1	6	3	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:2344593C>T	ENST00000452401.2	+	0	1296				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CTCCTCACCTCTGGCCCTGTG	0.647													4	17					0	0	0	0	T	2344593	C	T	2344593	1	4	394	0	1	0	0	0	0	0	0	0	15179	912	32	2		2	SPPL2B	19	2344593	RNA	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1073217	2344593	56784390	316	75604											
SIRT6	51548	broad.mit.edu	37	chr19	4180808	4180808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgccagaggcagtgctGatgccggcacccgtgtggaa	8	6	17	10	2	0	2	0	1	0	1	0	4	0	4	3	4	3	3	3	4	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:4180808G>A	ENST00000337491.2	-	2	229	c.165C>T	c.(163-165)atC>atT	p.I55I	SIRT6_ENST00000594279.1_5'UTR|SIRT6_ENST00000381935.3_Intron|SIRT6_ENST00000601488.1_Silent_p.I55I|SIRT6_ENST00000305232.6_Silent_p.I55I	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	55	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCAGTGCTGATGCCGGCAC	0.632													4	33					0	0	0	0	A	4180808	G	A	4180808	2	1	394	1	0	0	0	0	0	0	0	1	14430	1280	45	2		2	SIRT6	19	4180808	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1836215	4180808	54948175	317	75605											
KDM4B	23030	broad.mit.edu	37	chr19	5111450	5111450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggtgtccgcctggaggaGaggccaaagcatctgcagcc	8	7	14	12	1	2	1	0	0	2	1	3	3	3	2	4	4	3	2	4	4	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:5111450G>A	ENST00000381759.4	+	11	1387	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	KDM4B_ENST00000536461.1_Intron|KDM4B_ENST00000159111.4_Intron			O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	393					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCTGGAGGAGAGGCCAAAGC	0.647													6	70					0	0	0	0	A	5111450	G	A	5111450	3	1	394	1	0	0	0	0	1	0	0	0	8182	957	33	2		2	KDM4B	19	5111450	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	930642	5111450	54017533	318	75606											
MLLT1	4298	broad.mit.edu	37	chr19	6227034	6227034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttggggtcagagaaggcaGagagtggaattgtgggtaac	11	9	17	4	0	2	2	1	0	1	2	2	5	2	3	0	5	1	2	0	5	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6227034G>C	ENST00000252674.7	-	5	663	c.500C>G	c.(499-501)tCt>tGt	p.S167C		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	167					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGAGAAGGCAGAGAGTGGAAT	0.602			T	MLL	AL								7	39					0	0	0	0	C	6227034	G	C	6227034	3	2	394	1	0	0	0	0	1	0	0	0	9694	942	33	2	1211	2	MLLT1	19	6227034	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1115584	6227034	52901949	319	75607											
MLLT1	4298	broad.mit.edu	37	chr19	6262295	6262295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagcgtaccccgactcctCtactttgtaggggggctcct	5	10	11	15	2	1	0	0	0	1	0	3	1	3	0	5	3	3	3	5	3	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6262295C>T	ENST00000252674.7	-	3	383	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	74	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCCGACTCCTCTACTTTGTAG	0.562			T	MLL	AL								6	35					0	0	0	0	T	6262295	C	T	6262295	3	4	394	1	0	0	0	0	1	0	0	0	9694	922	32	2	1499	2	MLLT1	19	6262295	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	35261	6262295	52866688	320	75608											
PSPN	5623	broad.mit.edu	37	chr19	6375737	6375737	+	Missense_Mutation	SNP	C	C	G																															ccaggtccctccagcctttgCcacctgttcagacgagaact																										TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6375737C>G	ENST00000597721.1	-	1	3332	c.124G>C	c.(124-126)Gca>Cca	p.A42P	PSPN_ENST00000245810.1_Missense_Mutation_p.A42P			O60542	PSPN_HUMAN	persephin	42					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						CCAGCCTTTGCCACCTGTTCA	0.657													5	17					0	0	0	0	G	6375737	C	G	6375737	3	3	394	1	0	0	0	0	1	0	0	0	12797	739	26	4	353	4	PSPN	19	6375737	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	113442	6375737	52753246	321	75609	1017	2									
PSPN	5623	broad.mit.edu	37	chr19	6375746	6375746	+	Missense_Mutation	SNP	C	C	T																															tccagcctttgccacctgttCagacgagaactctccatcgg																										TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6375746C>T	ENST00000597721.1	-	1	3323	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PSPN_ENST00000245810.1_Missense_Mutation_p.E39K			O60542	PSPN_HUMAN	persephin	39					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						GCCACCTGTTCAGACGAGAAC	0.647													5	22					0	0	0	0	T	6375746	C	T	6375746	3	4	394	1	0	0	0	0	1	0	0	0	12797	835	29	2	362	2	PSPN	19	6375746	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	9	6375746	52753237	322	75610	1017	2									
C3	718	broad.mit.edu	37	chr19	6679175	6679175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggccttgtccagccgttCttccagggtgaccttgtcat	6	12	10	13	1	2	1	1	1	1	0	4	1	4	1	5	2	1	1	5	2	0	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6679175C>T	ENST00000245907.6	-	38	4683	c.4591G>A	c.(4591-4593)Gaa>Aaa	p.E1531K	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1531	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCAGCCGTTCTTCCAGGGTG	0.552													11	39					0	0	0	0	T	6679175	C	T	6679175	3	4	394	1	0	0	0	0	1	0	0	0	2224	922	32	2	416	2	C3	19	6679175	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	303429	6679175	52449808	323	75611											
MUC16	94025	broad.mit.edu	37	chr19	9085573	9085573	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtagttgaacttgggtttGaaaccccagaatggcctgag	10	11	12	8	1	0	4	0	3	0	1	1	4	0	4	3	2	2	3	3	2	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:9085573G>C	ENST00000397910.4	-	1	6445	c.6242C>G	c.(6241-6243)tCa>tGa	p.S2081*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2081	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGGGTTTGAAACCCCAGA	0.483													9	165					0	0	0	0	C	9085573	G	C	9085573	4	2	394	1	0	0	0	0	0	1	0	0	10043	1294	45	2	37617	2	MUC16	19	9085573	Nonsense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2406398	9085573	50043410	324	75612											
COL5A3	50509	broad.mit.edu	37	chr19	10102491	10102491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtttccctgctgtccCggagggcctggttctcctgg	2	12	13	14	1	1	0	0	0	1	0	4	1	3	1	5	5	1	3	5	5	0	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:10102491C>T	ENST00000264828.3	-	23	2005	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	640	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGCTGTCCCGGAGGGCCTG	0.557													4	85					0	0	0	0	T	10102491	C	T	10102491	2	4	394	1	0	0	0	0	0	0	0	1	3728	639	23	1		1	COL5A3	19	10102491	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1016918	10102491	49026492	325	75613											
ICAM4	3386	broad.mit.edu	37	chr19	10397777	10397777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggacgccggactaagcGggcgcaaagccccaagggta	10	3	16	12	4	0	0	0	0	0	0	0	2	0	2	3	4	2	3	3	4	4	2	rs56314906		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:10397777G>A	ENST00000393717.2	+	1	98	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.R30Q|ICAM4_ENST00000340992.4_Missense_Mutation_p.R30Q	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	30					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGGACTAAGCGGGCGCAAAGC	0.667													5	13					0	0	0	0	A	10397777	G	A	10397777	3	1	394	1	0	0	0	0	1	0	0	0	7535	1116	39	1	91	1	ICAM4	19	10397777	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	295286	10397777	48731206	326	75614											
EPOR	2057	broad.mit.edu	37	chr19	11489103	11489103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataggtatcctgggcatgctCactgcccactggctccagca	8	9	10	14	0	1	0	1	0	0	0	3	0	3	0	3	3	3	5	3	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:11489103C>T	ENST00000222139.6	-	8	1188	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	362						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGGGCATGCTCACTGCCCACT	0.637											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	42					0	0	0	0	T	11489103	C	T	11489103	3	4	394	1	0	0	0	0	1	0	0	0	5227	835	29	2	446	2	EPOR	19	11489103	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1091326	11489103	47639880	327	75615											
ZNF799	90576	broad.mit.edu	37	chr19	12501379	12501379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctccagtgtgagtttttttCcagtgagtctttttatgtct	5	21	8	7	0	3	2	0	2	3	0	5	2	4	2	2	0	0	1	2	0	1	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:12501379C>G	ENST00000419318.1	-	4	2486	c.1737G>C	c.(1735-1737)tgG>tgC	p.W579C	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.W611C			Q96GE5	ZN799_HUMAN	zinc finger protein 799	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAGTTTTTTTCCAGTGAGTCT	0.403													21	105					0	0	0	0	G	12501379	C	G	12501379	3	3	394	1	0	0	0	0	1	0	0	0	18259	856	30	2	102	2	ZNF799	19	12501379	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1012276	12501379	46627604	328	75616											
ZNF799	90576	broad.mit.edu	37	chr19	12502589	12502589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgtaataaactgggcCaaaaaaacgctttcccacac	16	8	6	11	1	0	0	0	0	0	0	1	0	1	0	2	1	2	3	2	1	7	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:12502589C>G	ENST00000419318.1	-	4	1276	c.527G>C	c.(526-528)tGg>tCg	p.W176S	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.W208S			Q96GE5	ZN799_HUMAN	zinc finger protein 799	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TAAACTGGGCCAAAAAAACGC	0.413													22	137					0	0	0	0	G	12502589	C	G	12502589	3	3	394	1	0	0	0	0	1	0	0	0	18259	595	21	4	1312	4	ZNF799	19	12502589	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1210	12502589	46626394	329	75617											
SYCE2	256126	broad.mit.edu	37	chr19	13011342	13011342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacttgtttgagctctgtctCcaaatggctgatctttgcca	7	15	9	10	0	3	2	0	2	3	0	4	3	3	2	2	1	2	3	2	1	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:13011342C>T	ENST00000293695.7	-	4	445	c.427G>A	c.(427-429)Gag>Aag	p.E143K	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	143					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						AGCTCTGTCTCCAAATGGCTG	0.478													10	55					0	0	0	0	T	13011342	C	T	13011342	3	4	394	1	0	0	0	0	1	0	0	0	15520	864	30	2	241	2	SYCE2	19	13011342	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	508753	13011342	46117641	330	75618											
PRKACA	5566	broad.mit.edu	37	chr19	14213715	14213715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtgtgttcgatctgtttCagtttcaccacctgggaagg	7	13	13	8	1	3	0	2	0	1	0	4	2	3	1	2	3	0	3	2	3	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:14213715C>T	ENST00000308677.4	-	4	445	c.249G>A	c.(247-249)ctG>ctA	p.L83L	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.L75L|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	83	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CGATCTGTTTCAGTTTCACCA	0.557													10	105					0	0	0	0	T	14213715	C	T	14213715	2	4	394	1	0	0	0	0	0	0	0	1	12577	813	29	2		2	PRKACA	19	14213715	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1202373	14213715	44915268	331	75619											
NOTCH3	4854	broad.mit.edu	37	chr19	15299893	15299893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactcgttgacatcggtctCacagcgaggtccagtgtagc	9	9	11	12	3	1	1	1	1	1	0	5	2	2	1	1	2	2	2	1	2	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:15299893C>G	ENST00000263388.2	-	8	1360	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	429	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACATCGGTCTCACAGCGAGGT	0.642													11	59					0	0	0	0	G	15299893	C	G	15299893	3	3	394	1	0	0	0	0	1	0	0	0	10620	835	29	2	5784	2	NOTCH3	19	15299893	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1086178	15299893	43829090	332	75620											
CYP4F12	66002	broad.mit.edu	37	chr19	15807845	15807845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaattgatcatgcgcgccGagggcgggctttggctgcgg	5	9	18	9	5	1	1	1	1	0	0	1	3	1	2	1	5	2	2	1	5	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:15807845G>A	ENST00000550308.1	+	13	1905	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	CYP4F12_ENST00000324632.9_Missense_Mutation_p.E509K	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CATGCGCGCCGAGGGCGGGCT	0.562													5	88					0	0	0	0	A	15807845	G	A	15807845	3	1	394	1	0	0	0	0	1	0	0	0	4219	1059	37	1	1571	1	CYP4F12	19	15807845	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	507952	15807845	43321138	333	75621											
NWD1	284434	broad.mit.edu	37	chr19	16860800	16860800	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gactctgtccgccatgctcgGagggttccctggctgcctct	3	11	12	15	2	2	0	0	0	2	0	5	2	4	1	4	3	2	3	4	3	0	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:16860800G>C	ENST00000524140.2	+	6	1765	c.1347G>C	c.(1345-1347)cgG>cgC	p.R449R	NWD1_ENST00000379808.3_Silent_p.R449R|NWD1_ENST00000339803.6_Silent_p.R314R|NWD1_ENST00000552788.1_Silent_p.R449R|NWD1_ENST00000549814.1_Silent_p.R449R|NWD1_ENST00000523826.1_Silent_p.R243R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	449	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCATGCTCGGAGGGTTCCCT	0.602													14	73					0	0	0	0	C	16860800	G	C	16860800	2	2	394	1	0	0	0	0	0	0	0	1	10852	1161	41	2		2	NWD1	19	16860800	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1052955	16860800	42268183	334	75622											
NCAN	1463	broad.mit.edu	37	chr19	19337498	19337498	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaggagaagcaggagtctCaacagaccctcagccctacc	12	5	11	13	0	2	2	2	0	1	2	3	5	2	4	3	3	4	1	3	3	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:19337498C>T	ENST00000252575.5	+	7	1319	c.1276C>T	c.(1276-1278)Caa>Taa	p.Q426*		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	426					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCAGGAGTCTCAACAGACCCT	0.622													5	16					0	0	0	0	T	19337498	C	T	19337498	4	4	394	1	0	0	0	0	0	1	0	0	10274	827	29	2	1298	2	NCAN	19	19337498	Nonsense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2476698	19337498	39791485	335	75623											
FXYD3	5349	broad.mit.edu	37	chr19	35613736	35613736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcgccatgggcatcatcatCgtcatgagtgagtggaggag	9	9	15	8	2	3	2	3	2	0	0	4	4	3	4	1	3	1	1	1	3	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:35613736C>G	ENST00000435734.2	+	7	424	c.165C>G	c.(163-165)atC>atG	p.I55M	FXYD3_ENST00000406242.3_Missense_Mutation_p.I55M|FXYD3_ENST00000344013.6_Missense_Mutation_p.I55M|FXYD3_ENST00000605677.1_Missense_Mutation_p.I55M|FXYD3_ENST00000604804.1_Missense_Mutation_p.I84M|FXYD3_ENST00000605550.1_Missense_Mutation_p.I55M|FXYD3_ENST00000346446.5_Missense_Mutation_p.I55M|FXYD3_ENST00000604621.1_Missense_Mutation_p.I55M|FXYD3_ENST00000604404.1_Missense_Mutation_p.I55M|FXYD3_ENST00000604255.1_Missense_Mutation_p.I112M|FXYD3_ENST00000406988.1_Missense_Mutation_p.I55M|FXYD3_ENST00000603181.1_Missense_Mutation_p.I55M|FXYD3_ENST00000535103.1_Missense_Mutation_p.I112M|FXYD3_ENST00000603524.1_Missense_Mutation_p.I84M	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	55						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCATCATCATCGTCATGAGTG	0.637													4	111					0	0	0	0	G	35613736	C	G	35613736	3	3	394	1	0	0	0	0	1	0	0	0	6167	874	31	3	447	3	FXYD3	19	35613736	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	16276238	35613736	23515247	336	75624											
ZNF461	92283	broad.mit.edu	37	chr19	37129720	37129720	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatggtgtgagaagcttgaAtgatagctaaaggccttccc	11	11	12	7	0	0	4	0	4	0	1	1	5	1	4	2	2	2	2	2	2	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:37129720A>G	ENST00000588268.1	-	6	1754	c.1527T>C	c.(1525-1527)caT>caC	p.H509H	ZNF461_ENST00000360357.4_Silent_p.H486H|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAGCTTGAATGATAGCTAA	0.383													5	76					0	0	0	0	G	37129720	A	G	37129720	2	3	394	1	0	0	0	0	0	0	0	1	18020	98	4	5		5	ZNF461	19	37129720	Silent	SNP	A	TCGA-DQ-7594-01A-11D-2229-08	1515984	37129720	21999263	337	75625											
ZNF461	92283	broad.mit.edu	37	chr19	37129831	37129831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaaggccttaccacatatCatgcattcatgaggtttctc	11	13	6	11	0	3	1	2	1	1	0	4	1	3	1	2	2	2	2	2	2	4	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:37129831C>T	ENST00000588268.1	-	6	1643	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	ZNF461_ENST00000360357.4_Missense_Mutation_p.M449I|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACCACATATCATGCATTCAT	0.398													16	32					0	0	0	0	T	37129831	C	T	37129831	3	4	394	1	0	0	0	0	1	0	0	0	18020	826	29	2	279	2	ZNF461	19	37129831	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	111	37129831	21999152	338	75626											
ZNF383	163087	broad.mit.edu	37	chr19	37734227	37734227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagaattcacactggtgaGaaaccctatgattgtaagga	15	9	10	7	0	1	3	1	2	0	2	1	6	1	4	1	2	1	1	1	2	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:37734227G>A	ENST00000589413.1	+	8	1672	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	ZNF383_ENST00000590503.1_Silent_p.E363E|ZNF383_ENST00000352998.3_Silent_p.E363E			Q8NA42	ZN383_HUMAN	zinc finger protein 383	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACTGGTGAGAAACCCTATG	0.433													4	74					0	0	0	0	A	37734227	G	A	37734227	2	1	394	1	0	0	0	0	0	0	0	1	17969	933	33	2		2	ZNF383	19	37734227	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	604396	37734227	21394756	339	75627											
MED29	55588	broad.mit.edu	37	chr19	39884203	39884203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtagaaagagcagtGatggacccatacagcgcttt	11	11	11	8	1	1	3	0	1	1	2	1	4	1	4	1	1	3	3	1	1	3	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:39884203G>T	ENST00000315588.5	+	3	398	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	MED29_ENST00000599213.2_Missense_Mutation_p.D96Y|MED29_ENST00000594368.1_Missense_Mutation_p.D96Y	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-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;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AAAGAGCAGTGATGGACCCAT	0.478													33	164					2.20262e-25	2.32016e-25	1	0	T	39884203	G	T	39884203	3	4	394	1	0	0	0	0	1	0	0	0	9516	1290	45	2	359	2	MED29	19	39884203	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2149976	39884203	19244780	340	75628											
ZNF780B	163131	broad.mit.edu	37	chr19	40541397	40541397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttgaataagttggtaatGatatcgaaaggccatctcac	14	12	9	6	1	1	2	1	2	1	0	3	3	1	2	1	2	0	3	1	2	5	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:40541397G>A	ENST00000434248.1	-	5	1434	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H309Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTTGGTAATGATATCGAAAG	0.388													13	146					0	0	0	0	A	40541397	G	A	40541397	3	1	394	1	0	0	0	0	1	0	0	0	18246	1290	45	2	1136	2	ZNF780B	19	40541397	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	657194	40541397	18587586	341	75629											
CYP2A7	1549	broad.mit.edu	37	chr19	41386406	41386406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgtgctccggatggcctcGatgaggaagcccgactcctc	6	8	13	14	4	0	1	0	1	0	0	4	5	2	3	4	3	3	1	4	3	1	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:41386406G>A	ENST00000301146.4	-	3	1012	c.471C>T	c.(469-471)atC>atT	p.I157I	CYP2A7_ENST00000291764.3_Silent_p.I106I|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	157						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.I157I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGGCCTCGATGAGGAAGC	0.662													19	55					0	0	0	0	A	41386406	G	A	41386406	2	1	394	1	0	0	0	0	0	0	0	1	4195	1048	37	1		1	CYP2A7	19	41386406	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	845009	41386406	17742577	342	75630											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41811767	41811767	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccagctataaccagtatCagcaggtaggtgccagactg	12	7	11	11	0	1	1	1	0	0	1	1	1	1	1	3	2	5	4	3	2	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:41811767C>T	ENST00000392006.3	+	14	2622	c.2449C>T	c.(2449-2451)Cag>Tag	p.Q817*	HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q713*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q717*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q765*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q727*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q728*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q717*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	817	Gln-rich.|Necessary for interaction with TP53.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAACCAGTATCAGCAGGTAGG	0.582													10	41					0	0	0	0	T	41811767	C	T	41811767	4	4	394	1	0	0	0	0	0	1	0	0	7324	827	29	2	2503	2	HNRNPUL1	19	41811767	Nonsense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	425361	41811767	17317216	343	75631											
PSG6	5675	broad.mit.edu	37	chr19	43414913	43414913	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaccacaggtagctTgcatccggagtctcaggatc	10	9	10	12	1	2	0	2	0	1	0	5	2	3	2	2	3	4	4	2	3	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:43414913T>C	ENST00000187910.2	-	3	590	c.525A>G	c.(523-525)gcA>gcG	p.A175A	PSG6_ENST00000402603.4_Silent_p.A175A|PSG6_ENST00000292125.2_Silent_p.A175A	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACAGGTAGCTTGCATCCGGAG	0.527													17	299					0	0	0	0	C	43414913	T	C	43414913	2	2	394	1	0	0	0	0	0	0	0	1	12738	1799	63	5		5	PSG6	19	43414913	Silent	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	1603146	43414913	15714070	344	75632											
EML2	24139	broad.mit.edu	37	chr19	46141770	46141770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcaaaaggatacacccactCcagcttgagccggcaagaag	15	4	10	12	1	0	2	0	1	0	1	1	3	1	3	3	2	4	3	3	2	5	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:46141770C>G	ENST00000536630.1	-	6	751	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	EML2_ENST00000587152.1_Missense_Mutation_p.E259Q|EML2_ENST00000589876.1_Missense_Mutation_p.E58Q|EML2_ENST00000245925.3_Missense_Mutation_p.E58Q	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	58					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TACACCCACTCCAGCTTGAGC	0.602													24	82					0	0	0	0	G	46141770	C	G	46141770	3	3	394	1	0	0	0	0	1	0	0	0	5135	864	30	2	1845	2	EML2	19	46141770	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2726857	46141770	12987213	345	75633											
PNMAL2	57469	broad.mit.edu	37	chr19	46997421	46997421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgctccagcccccgaaGaggccacgcccagccttctt	6	7	9	19	3	1	1	0	0	1	1	3	2	2	1	6	1	3	2	6	1	1	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:46997421G>T	ENST00000599531.1	-	1	2334	c.1302C>A	c.(1300-1302)ctC>ctA	p.L434L	PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	434										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCCCCCGAAGAGGCCACGCC	0.672													11	52					5.16669e-11	5.4298e-11	1	0	T	46997421	G	T	46997421	2	4	394	1	0	0	0	0	0	0	0	1	12230	929	33	2		2	PNMAL2	19	46997421	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	855651	46997421	12131562	346	75634											
CCDC155	147872	broad.mit.edu	37	chr19	49897753	49897753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtacctccgggagcggcctGaggaggcaaggctgggaatg	8	6	18	9	2	0	1	0	1	0	0	1	4	1	4	3	6	2	3	3	6	3	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:49897753G>A	ENST00000447857.3	+	3	269	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	22						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGAGCGGCCTGAGGAGGCAAG	0.602													21	113					0	0	0	0	A	49897753	G	A	49897753	3	1	394	1	0	0	0	0	1	0	0	0	2814	1291	45	2	70	2	CCDC155	19	49897753	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2900332	49897753	9231230	347	75635											
SLC17A7	57030	broad.mit.edu	37	chr19	49934296	49934296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttagtcatggcccccacGatgatggggcacaccatgcc	8	8	11	14	1	1	1	1	1	0	0	1	2	1	1	4	3	2	2	4	3	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:49934296G>A	ENST00000221485.3	-	11	1536	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	SLC17A7_ENST00000600601.1_Silent_p.I388I|SLC17A7_ENST00000543531.1_Silent_p.I443I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	455					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGGCCCCCACGATGATGGGGC	0.607													8	21					0	0	0	0	A	49934296	G	A	49934296	2	1	394	1	0	0	0	0	0	0	0	1	14510	1048	37	1		1	SLC17A7	19	49934296	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	36543	49934296	9194687	348	75636											
GPR32	2854	broad.mit.edu	37	chr19	51274550	51274550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctggggcccttagcaatCataggcacctgcgcccacct	7	9	9	16	1	1	0	1	0	0	0	2	0	2	0	5	3	2	2	5	3	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:51274550C>G	ENST00000270590.4	+	1	830	c.693C>G	c.(691-693)atC>atG	p.I231M		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	231						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTTAGCAATCATAGGCACCT	0.607													10	44					0	0	0	0	G	51274550	C	G	51274550	3	3	394	1	0	0	0	0	1	0	0	0	6737	816	29	2	695	2	GPR32	19	51274550	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1340254	51274550	7854433	349	75637											
FPR3	2359	broad.mit.edu	37	chr19	52327788	52327788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttatgaactaattggcattCtaatggcagtctggctcaaa	12	13	8	8	0	3	1	1	1	2	0	3	1	3	1	0	3	1	3	0	3	5	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:52327788C>G	ENST00000339223.4	+	2	966	c.787C>G	c.(787-789)Cta>Gta	p.L263V	FPR3_ENST00000595991.1_Missense_Mutation_p.L263V	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	263					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						AATTGGCATTCTAATGGCAGT	0.423													16	67					0	0	0	0	G	52327788	C	G	52327788	3	3	394	1	0	0	0	0	1	0	0	0	6087	912	32	2	789	2	FPR3	19	52327788	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1053238	52327788	6801195	350	75638											
ZNF350	59348	broad.mit.edu	37	chr19	52469099	52469099	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgcacacatgatgcttctCtaattttcgtgttttctgat	8	18	6	9	1	2	2	0	2	2	0	4	2	2	2	0	0	2	3	0	0	1	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:52469099C>G	ENST00000243644.4	-	5	834	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	203					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGATGCTTCTCTAATTTTCGT	0.423													33	143					0	0	0	0	G	52469099	C	G	52469099	3	3	394	1	0	0	0	0	1	0	0	0	17958	922	32	2	995	2	ZNF350	19	52469099	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	141311	52469099	6659884	351	75639											
PPP2R1A	5518	broad.mit.edu	37	chr19	52725391	52725391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggacatcaccaccaagCacatgctacccacggttctg	11	6	9	15	1	2	0	1	0	1	0	2	1	2	1	3	3	3	4	3	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:52725391C>T	ENST00000322088.6	+	13	1616	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.H465Y|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.H341Y	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	520	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACCACCAAGCACATGCTACC	0.582			Mis		clear cell ovarian carcinoma								6	17					0	0	0	0	T	52725391	C	T	52725391	3	4	394	1	0	0	0	0	1	0	0	0	12458	710	25	4	1608	4	PPP2R1A	19	52725391	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	256292	52725391	6403592	352	75640											
NLRP2	55655	broad.mit.edu	37	chr19	55495074	55495074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggagaatgtcactgcgtctGaatcagacgccgaggttgag	10	8	14	9	4	3	4	2	2	1	2	3	6	3	4	1	2	1	1	1	2	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:55495074G>C	ENST00000543010.1	+	6	2151	c.2008G>C	c.(2008-2010)Gaa>Caa	p.E670Q	NLRP2_ENST00000538819.1_Missense_Mutation_p.E646Q|NLRP2_ENST00000263437.6_Missense_Mutation_p.E667Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.E670Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.E648Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.E646Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.E647Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.E648Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	670					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACTGCGTCTGAATCAGACGC	0.517													6	53					0	0	0	0	C	55495074	G	C	55495074	3	2	394	1	0	0	0	0	1	0	0	0	10547	1291	45	2	2026	2	NLRP2	19	55495074	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	2769683	55495074	3633909	353	75641											
NLRP9	338321	broad.mit.edu	37	chr19	56243715	56243715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgttgaaattccaaacatGaatatccccacctgggtcaa	13	11	6	11	0	2	2	1	2	1	0	4	2	4	2	4	1	1	1	4	1	5	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:56243715G>A	ENST00000332836.2	-	2	1509	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	494						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCCAAACATGAATATCCCCA	0.473													14	105					0	0	0	0	A	56243715	G	A	56243715	2	1	394	1	0	0	0	0	0	0	0	1	10554	1281	45	2		2	NLRP9	19	56243715	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	748641	56243715	2885268	354	75642											
NLRP13	126204	broad.mit.edu	37	chr19	56423159	56423159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagtgctttaggcaaaatGaagaagcttggagttcttcg	12	12	11	6	1	1	2	0	1	1	1	2	3	1	3	0	2	3	4	0	2	6	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:56423159G>A	ENST00000588751.1	-	5	2048	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	NLRP13_ENST00000342929.3_Missense_Mutation_p.S675L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	675							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TAGGCAAAATGAAGAAGCTTG	0.403													33	122					0	0	0	0	A	56423159	G	A	56423159	3	1	394	1	0	0	0	0	1	0	0	0	10545	1294	45	2	1133	2	NLRP13	19	56423159	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	179444	56423159	2705824	355	75643											
NLRP8	126205	broad.mit.edu	37	chr19	56473480	56473480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtggcaagacttatgctCtgtgtttgcaacgaatgata	10	14	11	6	1	1	2	0	1	1	1	1	3	1	2	0	2	3	4	0	2	5	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:56473480C>T	ENST00000291971.3	+	4	2161	c.2090C>T	c.(2089-2091)tCt>tTt	p.S697F	NLRP8_ENST00000590542.1_Missense_Mutation_p.S697F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	697						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACTTATGCTCTGTGTTTGCA	0.502													25	117					0	0	0	0	T	56473480	C	T	56473480	3	4	394	1	0	0	0	0	1	0	0	0	10553	913	32	2	2104	2	NLRP8	19	56473480	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	50321	56473480	2655503	356	75644											
ZNF667	63934	broad.mit.edu	37	chr19	56953283	56953283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaacttgtcacatttatCacatttgtacggtttctctg	10	16	7	8	1	3	1	2	0	1	1	4	2	3	1	0	1	2	2	0	1	4	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:56953283C>T	ENST00000504904.3	-	7	1800	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ZNF667_ENST00000292069.6_Missense_Mutation_p.D361N|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.D489N			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TCACATTTATCACATTTGTAC	0.358													13	57					0	0	0	0	T	56953283	C	T	56953283	3	4	394	1	0	0	0	0	1	0	0	0	18169	826	29	2	755	2	ZNF667	19	56953283	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	479803	56953283	2175700	357	75645											
ZFP28	140612	broad.mit.edu	37	chr19	57066551	57066551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accttcatccaaattggacaCcttaatcaacataagagagt	16	10	5	10	0	2	1	2	0	0	1	3	3	3	2	3	1	1	0	3	1	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:57066551C>T	ENST00000301318.3	+	8	2468	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAATTGGACACCTTAATCAAC	0.373													29	114					0	0	0	0	T	57066551	C	T	57066551	2	4	394	1	0	0	0	0	0	0	0	1	17737	506	18	4		4	ZFP28	19	57066551	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	113268	57066551	2062432	358	75646											
ZNF132	7691	broad.mit.edu	37	chr19	58945239	58945239	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaggctggagctgcggctGaaggatttcctacattcgct	8	11	12	10	2	1	1	1	1	0	0	3	3	2	3	1	4	3	4	1	4	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:58945239G>A	ENST00000254166.3	-	3	1972	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGCTGCGGCTGAAGGATTTCC	0.498													11	60					0	0	0	0	A	58945239	G	A	58945239	2	1	394	1	0	0	0	0	0	0	0	1	17817	1281	45	2		2	ZNF132	19	58945239	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	1878688	58945239	183744	359	75647											
TBC1D20	128637	broad.mit.edu	37	chr20	419286	419286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggcacttttcaccaCagccagtgcagccgctccaa	9	8	8	16	1	1	0	1	0	0	0	3	0	3	0	5	1	3	3	5	1	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:419286C>T	ENST00000354200.4	-	8	1303	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	386					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CTTTTCACCACAGCCAGTGCA	0.522													9	118					0	0	0	0	T	419286	C	T	419286	3	4	394	1	0	0	0	0	1	0	0	0	15700	478	17	4	59	4	TBC1D20	20	419286	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		419286	62606234	360	75648											
PLCB4	5332	broad.mit.edu	37	chr20	9376208	9376208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcatgatggaagctggaGaatctgcctccccagcaaac	13	6	11	11	0	1	2	0	1	1	1	2	5	2	3	3	2	5	3	3	2	4	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:9376208G>A	ENST00000378501.2	+	16	1468	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	PLCB4_ENST00000414679.2_Missense_Mutation_p.E485K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E485K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E485K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E485K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E485K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	485					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						GGAAGCTGGAGAATCTGCCTC	0.423													18	48					0	0	0	0	A	9376208	G	A	9376208	3	1	394	1	0	0	0	0	1	0	0	0	12102	943	33	2	1515	2	PLCB4	20	9376208	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	8956922	9376208	53649312	361	75649											
MKKS	8195	broad.mit.edu	37	chr20	10393479	10393479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttgataggtaatagcctCattaattgaacttctgacat	12	17	6	6	0	2	3	1	3	1	0	2	3	2	3	1	1	2	1	1	1	5	8			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:10393479C>G	ENST00000347364.2	-	3	1446	c.684G>C	c.(682-684)atG>atC	p.M228I		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	228	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						GTAATAGCCTCATTAATTGAA	0.378													5	105					0	0	0	0	G	10393479	C	G	10393479	3	3	394	1	0	0	0	0	1	0	0	0	9669	826	29	2	1044	2	MKKS	20	10393479	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	1017271	10393479	52632041	362	75650											
TASP1	55617	broad.mit.edu	37	chr20	13610608	13610608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaacacaaagcctcctcGtttctctttataggactgct	10	12	5	14	1	1	0	0	0	1	0	4	1	2	1	3	1	3	2	3	1	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:13610608G>C	ENST00000337743.4	-	2	238	c.118C>G	c.(118-120)Cga>Gga	p.R40G	TASP1_ENST00000539805.1_Missense_Mutation_p.R40G|TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000544472.1_Missense_Mutation_p.R40G	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	40					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AAGCCTCCTCGTTTCTCTTTA	0.438													6	141					0	0	0	0	C	13610608	G	C	13610608	3	2	394	1	0	0	0	0	1	0	0	0	15680	1153	40	3	1196	3	TASP1	20	13610608	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3217129	13610608	49414912	363	75651											
DSTN	11034	broad.mit.edu	37	chr20	17585239	17585239	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaagtaaaatgatctaTgcaagctccaaggatgcaat	17	9	8	7	0	1	2	0	2	1	0	2	3	2	3	1	1	3	4	1	1	8	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:17585239T>A	ENST00000246069.6	+	3	697	c.351T>A	c.(349-351)taT>taA	p.Y117*	DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Nonsense_Mutation_p.Y100*	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	117	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAATGATCTATGCAAGCTCCA	0.383													16	48					0	0	0	0	A	17585239	T	A	17585239	4	1	394	1	0	0	0	0	0	1	0	0	4820	1471	51	5	361	5	DSTN	20	17585239	Nonsense_Mutation	SNP	T	TCGA-DQ-7594-01A-11D-2229-08	3974631	17585239	45440281	364	75652											
GDF5	8200	broad.mit.edu	37	chr20	34021893	34021893	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgattcgtgggctccagGtgggagcgcaatgggaactc	8	8	16	9	2	0	1	0	1	0	0	3	3	1	3	1	4	2	3	1	4	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:34021893G>A	ENST00000374372.1	-	4	1823	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	GDF5_ENST00000374369.3_Silent_p.H440H|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	440			H -> L (in DPS; located on the same allele as L-437 del and T-439).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGGGCTCCAGGTGGGAGCGCA	0.607													4	37					0	0	0	0	A	34021893	G	A	34021893	2	1	394	1	0	0	0	0	0	0	0	1	6367	1252	44	4		4	GDF5	20	34021893	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	16436654	34021893	29003627	365	75653											
CPNE1	8904	broad.mit.edu	37	chr20	34215283	34215283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaagttggtagggccataGaggcgaacttggggcagggc	10	6	18	7	1	0	1	0	0	0	1	0	2	0	1	1	6	1	4	1	6	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:34215283G>A	ENST00000317619.3	-	16	1549	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	CPNE1_ENST00000397442.1_Silent_p.L385L|CPNE1_ENST00000317677.5_Silent_p.L390L|CPNE1_ENST00000397446.1_Silent_p.L385L|CPNE1_ENST00000397445.1_Silent_p.L385L|CPNE1_ENST00000397443.1_Silent_p.L385L|CPNE1_ENST00000352393.4_Silent_p.L385L			Q99829	CPNE1_HUMAN	copine I	385	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TAGGGCCATAGAGGCGAACTT	0.582													13	69					0	0	0	0	A	34215283	G	A	34215283	2	1	394	1	0	0	0	0	0	0	0	1	3841	929	33	2		2	CPNE1	20	34215283	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	193390	34215283	28810237	366	75654											
BAGE2	85319	broad.mit.edu	37	chr21	11038898	11038898	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcgaaggcaagtctgaaGaaggtgttggggaggaagac	13	6	17	5	1	1	3	0	1	1	2	1	6	1	5	0	5	1	2	0	5	5	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr21:11038898G>A	ENST00000470054.1	-	0	1305									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)		CAAGTCTGAAGAAGGTGTTGG	0.438													9	375					0	0	0	0	A	11038898	G	A	11038898	1	1	394	0	1	0	0	0	0	0	0	0	1296	957	33	2		2	BAGE2	21	11038898	RNA	SNP	G	TCGA-DQ-7594-01A-11D-2229-08		11038898	37090997	367	75655											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31798059	31798059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgggcctccagcaggtctCctgacagcccctatagagag	8	8	12	13	0	1	2	0	1	1	1	3	3	2	2	5	2	2	2	5	2	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr21:31798059C>T	ENST00000390690.2	-	1	227	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	58	5 X 10 AA approximate repeats.					intermediate filament		p.E58K(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CAGCAGGTCTCCTGACAGCCC	0.587													15	64					0	0	0	0	T	31798059	C	T	31798059	3	4	394	1	0	0	0	0	1	0	0	0	8576	864	30	2	350	2	KRTAP13-3	21	31798059	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	20759161	31798059	16331836	368	75656											
ATP5O	539	broad.mit.edu	37	chr21	35284600	35284600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagctacttactgctactCtcaacaactccttttctact	11	14	3	13	0	2	0	1	0	2	0	4	1	3	0	1	0	8	2	1	0	7	6			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr21:35284600C>G	ENST00000290299.2	-	3	407	c.191G>C	c.(190-192)aGa>aCa	p.R64T	AP000304.12_ENST00000429238.1_Missense_Mutation_p.E12D	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TACTGCTACTCTCAACAACTC	0.388													6	37					0	0	0	0	G	35284600	C	G	35284600	3	3	394	1	0	0	0	0	1	0	0	0	1166	913	32	2	470	2	ATP5O	21	35284600	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	3486541	35284600	12845295	369	75657											
CECR5	27440	broad.mit.edu	37	chr22	17619176	17619176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcccctagttctggcgccCcatcatgcgttgccttctgc	3	11	10	17	3	3	0	1	0	2	0	3	0	3	0	5	2	3	2	5	2	1	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:17619176C>T	ENST00000336737.4	-	8	1032	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	CECR5_ENST00000399852.3_Missense_Mutation_p.G136E|CECR5_ENST00000155674.5_Missense_Mutation_p.G306E	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	336							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTCTGGCGCCCCATCATGCGT	0.602													9	50					0	0	0	0	T	17619176	C	T	17619176	3	4	394	1	0	0	0	0	1	0	0	0	3236	623	22	4	268	4	CECR5	22	17619176	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		17619176	33685390	370	75658											
GNAZ	2781	broad.mit.edu	37	chr22	23438121	23438121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctacaatgccatcgactCgctgacccgcatcatccggg	9	8	8	16	4	2	1	1	1	1	0	5	2	3	1	3	1	2	2	3	1	2	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:23438121C>T	ENST00000248996.4	+	2	905	c.239C>T	c.(238-240)tCg>tTg	p.S80L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	80						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.S80L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCCATCGACTCGCTGACCCGC	0.617													10	272					0	0	0	0	T	23438121	C	T	23438121	3	4	394	1	0	0	0	0	1	0	0	0	6565	893	31	1	241	1	GNAZ	22	23438121	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5818945	23438121	27866445	371	75659											
BCR	613	broad.mit.edu	37	chr22	23523168	23523168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtggacccggtgggcttCgcggaggcgtggaaggcgca	6	6	20	9	5	0	0	0	0	0	0	1	3	0	3	1	8	0	2	1	8	1	1			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:23523168C>T	ENST00000305877.8	+	1	772	c.21C>T	c.(19-21)ttC>ttT	p.F7F	BCR_ENST00000359540.3_Silent_p.F7F|BCR_ENST00000398512.5_Silent_p.F7F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	7	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGGTGGGCTTCGCGGAGGCGT	0.766			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								5	5					0	0	0	0	T	23523168	C	T	23523168	2	4	394	1	0	0	0	0	0	0	0	1	1392	883	31	1		1	BCR	22	23523168	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	85047	23523168	27781398	372	75660											
PATZ1	23598	broad.mit.edu	37	chr22	31731697	31731697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcggttacagatactgcaGaagttgctgggcccctcgct	7	10	11	13	2	0	2	0	0	0	2	2	2	0	2	3	2	4	5	3	2	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:31731697G>A	ENST00000266269.5	-	3	2117	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	PATZ1_ENST00000351933.4_Silent_p.F496F|RP3-400N23.6_ENST00000451161.1_RNA|RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_Silent_p.F496F	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	496					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGATACTGCAGAAGTTGCTGG	0.567													12	79					0	0	0	0	A	31731697	G	A	31731697	2	1	394	1	0	0	0	0	0	0	0	1	11547	933	33	2		2	PATZ1	22	31731697	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	8208529	31731697	19572869	373	75661											
CDC42EP1	11135	broad.mit.edu	37	chr22	37964177	37964177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaaaagccgcatgaccgaGaccgggatggttccttcccc	9	6	12	14	4	0	2	0	1	0	1	2	5	2	4	6	3	1	2	6	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:37964177G>A	ENST00000249014.4	+	3	946	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	176					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCATGACCGAGACCGGGATGG	0.642													5	146					0	0	0	0	A	37964177	G	A	37964177	3	1	394	1	0	0	0	0	1	0	0	0	3104	942	33	2	532	2	CDC42EP1	22	37964177	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	6232480	37964177	13340389	374	75662											
RANGAP1	5905	broad.mit.edu	37	chr22	41650340	41650340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagggtccagaatcttccgtGagggcgtggctgacttctct	6	12	13	10	2	2	3	0	2	2	1	5	3	4	3	2	3	0	1	2	3	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:41650340G>A	ENST00000455915.2	-	10	2701	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	RANGAP1_ENST00000405486.1_Missense_Mutation_p.S411L|RANGAP1_ENST00000356244.3_Missense_Mutation_p.S411L|RANGAP1_ENST00000407260.4_Missense_Mutation_p.S356L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	411					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATCTTCCGTGAGGGCGTGGC	0.547													9	54					0	0	0	0	A	41650340	G	A	41650340	3	1	394	1	0	0	0	0	1	0	0	0	13115	1294	45	2	555	2	RANGAP1	22	41650340	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3686163	41650340	9654226	375	75663											
CYP2D6	1565	broad.mit.edu	37	chr22	42525806	42525806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggcggtcggcggtgtcctCgccgtgggtcaccagcgcct	2	7	17	15	7	1	0	1	0	0	0	4	0	2	0	4	5	1	0	4	5	0	0			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:42525806C>T	ENST00000360608.5	-	2	400	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CYP2D6_ENST00000389970.3_Missense_Mutation_p.E96K|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.E96K|NDUFA6-AS1_ENST00000416037.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	96							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGGTGTCCTCGCCGTGGGTC	0.701													8	21					0	0	0	0	T	42525806	C	T	42525806	3	4	394	1	0	0	0	0	1	0	0	0	4201	893	31	1	1239	1	CYP2D6	22	42525806	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	875466	42525806	8778760	376	75664											
FAM118A	55007	broad.mit.edu	37	chr22	45728306	45728306	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttcattggccttttctagGaagtcctccagaacttatac	9	15	6	11	0	3	1	1	0	2	1	5	2	5	2	3	2	2	0	3	2	5	7			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:45728306G>A	ENST00000216214.3	+	7	1486	c.651_splice	c.e7-1	p.E218_splice	FAM118A_ENST00000441876.2_Splice_Site_p.E218_splice|FAM118A_ENST00000405548.3_Splice_Site_p.E36_splice	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	218						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCTTTTCTAGGAAGTCCTCCA	0.458													12	153					0	0	0	0	A	45728306	G	A	45728306	5	1	394	1	0	0	0	0	0	0	1	0	5452	1188	41	2	670	2	FAM118A	22	45728306	Splice_Site	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	3202500	45728306	5576260	377	75665											
FAM118A	55007	broad.mit.edu	37	chr22	45728555	45728555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttccaggatatgtgcaaGaccttgccactcagatctgc	10	11	8	12	0	2	2	1	0	1	2	3	3	3	3	3	1	3	1	3	1	2	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:45728555G>A	ENST00000216214.3	+	7	1735	c.901G>A	c.(901-903)Gac>Aac	p.D301N	FAM118A_ENST00000441876.2_Missense_Mutation_p.D301N|FAM118A_ENST00000405548.3_Missense_Mutation_p.D119N	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	301						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATATGTGCAAGACCTTGCCAC	0.418													4	120					0	0	0	0	A	45728555	G	A	45728555	3	1	394	1	0	0	0	0	1	0	0	0	5452	942	33	2	919	2	FAM118A	22	45728555	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	249	45728555	5576011	378	75666											
CNKSR2	22866	broad.mit.edu	37	chrX	21550065	21550065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaatcaccaaattcatttCtggatcaggaatatcgaaag	15	11	7	8	1	4	1	3	1	1	0	5	4	4	3	1	2	0	0	1	2	5	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:21550065C>T	ENST00000425654.2	+	11	1663	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	CNKSR2_ENST00000543067.1_Silent_p.L346L|CNKSR2_ENST00000279451.4_Silent_p.L395L|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000379510.3_Silent_p.L395L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	395	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAATTCATTTCTGGATCAGGA	0.378													20	42					0	0	0	0	T	21550065	C	T	21550065	2	4	394	1	0	0	0	0	0	0	0	1	3637	912	32	2		2	CNKSR2	23	21550065	Silent	SNP	C	TCGA-DQ-7594-01A-11D-2229-08		21550065	133720495	379	75667											
APOO	79135	broad.mit.edu	37	chrX	23897088	23897088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctgtgagatgctttcttCaagctggctccttgcctcct	5	14	10	12	0	2	1	1	1	1	1	4	3	4	1	3	1	4	4	3	1	1	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:23897088C>G	ENST00000379226.4	-	3	412	c.181G>C	c.(181-183)Gaa>Caa	p.E61Q	APOO_ENST00000379220.3_Missense_Mutation_p.E61Q	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	61					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						ATGCTTTCTTCAAGCTGGCTC	0.443													6	32					0	0	0	0	G	23897088	C	G	23897088	3	3	394	1	0	0	0	0	1	0	0	0	815	835	29	2	439	2	APOO	23	23897088	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	2347023	23897088	131373472	380	75668											
AKAP4	8852	broad.mit.edu	37	chrX	49958170	49958170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacaaagtctgagtcagtCatcaggaccccagtaatatt	14	9	9	9	0	4	2	3	1	1	1	4	4	4	3	2	1	0	1	2	1	3	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:49958170C>T	ENST00000376056.2	-	5	1317	c.1167G>A	c.(1165-1167)atG>atA	p.M389I	AKAP4_ENST00000358526.2_Missense_Mutation_p.M398I|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.M389I|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	398					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.M398I(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTGAGTCAGTCATCAGGACCC	0.458													4	33					0	0	0	0	T	49958170	C	T	49958170	3	4	394	1	0	0	0	0	1	0	0	0	453	826	29	2	1378	2	AKAP4	23	49958170	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	26061082	49958170	105312390	381	75669											
ALAS2	212	broad.mit.edu	37	chrX	55047576	55047576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgaggccacagatgcctCagagaaatgttgggcaaagg	12	8	13	8	0	1	3	1	1	0	2	1	4	1	3	2	3	1	2	2	3	2	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:55047576C>G	ENST00000330807.5	-	5	684	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ALAS2_ENST00000335854.4_Missense_Mutation_p.E146Q|ALAS2_ENST00000396198.3_Missense_Mutation_p.E170Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	183					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ACAGATGCCTCAGAGAAATGT	0.512													16	23					0	0	0	0	G	55047576	C	G	55047576	3	3	394	1	0	0	0	0	1	0	0	0	485	835	29	2	1244	2	ALAS2	23	55047576	Missense_Mutation	SNP	C	TCGA-DQ-7594-01A-11D-2229-08	5089406	55047576	100222984	382	75670											
SERPINA7	6906	broad.mit.edu	37	chrX	105280648	105280648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagatgcttgccaatgaaGagggcatttcctatctgcaa	11	12	9	9	0	2	3	1	1	1	2	3	3	3	3	2	1	3	3	2	1	4	4			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:105280648G>A	ENST00000327674.4	-	1	737	c.402C>T	c.(400-402)ctC>ctT	p.L134L	SERPINA7_ENST00000372563.1_Silent_p.L134L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	134					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGCCAATGAAGAGGGCATTTC	0.438													7	94					0	0	0	0	A	105280648	G	A	105280648	2	1	394	1	0	0	0	0	0	0	0	1	14181	929	33	2		2	SERPINA7	23	105280648	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	50233072	105280648	49989912	383	75671											
OCRL	4952	broad.mit.edu	37	chrX	128709136	128709136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgaaggttgtggatgaacGaaggtaccggaaagtctttg	11	10	16	4	2	1	2	0	2	1	0	1	5	1	4	1	5	2	2	1	5	5	3			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:128709136G>A	ENST00000371113.4	+	16	1787	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	OCRL_ENST00000357121.5_Missense_Mutation_p.R541Q	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	541					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTGGATGAACGAAGGTACCGG	0.408													15	28					0	0	0	0	A	128709136	G	A	128709136	3	1	394	1	0	0	0	0	1	0	0	0	10894	1058	37	1	1684	1	OCRL	23	128709136	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	23428488	128709136	26561424	384	75672											
IDH3G	3421	broad.mit.edu	37	chrX	153053583	153053583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcaggttatggttggtttcGatgttgcctacaaaacacaa	11	12	11	7	1	0	0	0	0	0	0	1	1	0	0	1	4	3	5	1	4	5	5			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:153053583G>C	ENST00000370092.3	-	6	539	c.354C>G	c.(352-354)atC>atG	p.I118M	IDH3G_ENST00000370093.1_Missense_Mutation_p.I118M|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Missense_Mutation_p.I118M|IDH3G_ENST00000427365.2_Missense_Mutation_p.I60M	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	118					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GGTTGGTTTCGATGTTGCCTA	0.597													64	95					0	0	0	0	C	153053583	G	C	153053583	3	2	394	1	0	0	0	0	1	0	0	0	7551	1048	37	3	922	3	IDH3G	23	153053583	Missense_Mutation	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	24344447	153053583	2216977	385	75673											
PLXNA3	55558	broad.mit.edu	37	chrX	153688925	153688925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcaagctgggtgagccGcaccaccgcaaggagcacta	10	6	11	14	2	2	1	1	1	1	0	2	2	2	2	3	2	3	4	3	2	3	2			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:153688925G>A	ENST00000369682.3	+	2	577	c.402G>A	c.(400-402)ccG>ccA	p.P134P		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	134	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGTGAGCCGCACCACCGCA	0.657													3	55					0	0	0	0	A	153688925	G	A	153688925	2	1	394	1	0	0	0	0	0	0	0	1	12193	1074	38	1		1	PLXNA3	23	153688925	Silent	SNP	G	TCGA-DQ-7594-01A-11D-2229-08	635342	153688925	1581635	386	75674											
AJAP1	55966	broad.mit.edu	37	chr1	4772200	4772200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagtggagcggatccaCgggcagatgcagatgcctcg	8	5	15	13	4	0	2	0	0	0	2	2	5	1	4	4	3	3	2	4	3	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:4772200C>T	ENST00000378191.4	+	2	651	c.270C>T	c.(268-270)caC>caT	p.H90H	AJAP1_ENST00000378190.3_Silent_p.H90H|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	90					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AGCGGATCCACGGGCAGATGC	0.756													3	6					0	0	0	0	T	4772200	C	T	4772200	2	4	395	1	0	0	0	0	0	0	0	1	438	535	19	1		1	AJAP1	1	4772200	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		4772200	244478421	1	75675											
VPS13D	55187	broad.mit.edu	37	chr1	12443077	12443077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgatggagctgaagttGttcttggtcctgacacttcc	6	16	11	8	0	1	3	0	3	1	0	3	4	3	4	2	2	1	4	2	2	1	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:12443077G>T	ENST00000358136.3	+	58	11363	c.11233G>T	c.(11233-11235)Gtt>Ttt	p.V3745F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.V3720F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3744					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTGAAGTTGTTCTTGGTCC	0.423													55	111					6.77423e-14	8.66951e-14	1	0	T	12443077	G	T	12443077	3	4	395	1	0	0	0	0	1	0	0	0	17288	1377	48	4	11459	4	VPS13D	1	12443077	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	7670877	12443077	236807544	2	75676											
EIF4G3	8672	broad.mit.edu	37	chr1	21268711	21268711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagctctgctatggatacTattgcagtagtttcagatgt	10	14	11	6	0	2	1	1	0	1	1	2	3	2	3	0	2	4	5	0	2	5	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:21268711T>C	ENST00000602326.1	-	12	1369	c.786A>G	c.(784-786)atA>atG	p.I262M	EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I262M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.I267M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.I256M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I256M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.I256M|EIF4G3_ENST00000536266.1_De_novo_Start_InFrame	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	256					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTATGGATACTATTGCAGTAG	0.483													45	123					0	0	0	0	C	21268711	T	C	21268711	3	2	395	1	0	0	0	0	1	0	0	0	5076	1512	53	5	4085	5	EIF4G3	1	21268711	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	8825634	21268711	227981910	3	75677											
RAP1GAP	5909	broad.mit.edu	37	chr1	21936074	21936074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtgcccctcaccttcctGaacacagcggggtccgggag	6	6	15	14	2	1	1	1	1	0	0	3	2	3	2	5	5	3	0	5	5	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:21936074G>A	ENST00000542643.2	-	16	1367	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	RAP1GAP_ENST00000374763.2_Silent_p.F355F|RAP1GAP_ENST00000290101.4_Silent_p.F419F|RAP1GAP_ENST00000374761.2_Silent_p.F386F|RAP1GAP_ENST00000374765.4_Silent_p.F355F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	355	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TCACCTTCCTGAACACAGCGG	0.612													60	120					0	0	0	0	A	21936074	G	A	21936074	2	1	395	1	0	0	0	0	0	0	0	1	13119	1281	45	2		2	RAP1GAP	1	21936074	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	667363	21936074	227314547	4	75678											
CDC20	991	broad.mit.edu	37	chr1	43824947	43824947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagctggatgcacccatcCccaatgcaccccctgcgcgc	7	7	8	19	2	1	0	1	0	0	0	2	1	2	1	5	1	4	3	5	1	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:43824947C>T	ENST00000372462.1	+	1	264	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	CDC20_ENST00000310955.6_Missense_Mutation_p.P21S			Q12834	CDC20_HUMAN	cell division cycle 20	21					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCACCCATCCCCAATGCACC	0.697													30	88					0	0	0	0	T	43824947	C	T	43824947	3	4	395	1	0	0	0	0	1	0	0	0	3088	623	22	4	63	4	CDC20	1	43824947	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	21888873	43824947	205425674	5	75679											
LEPR	3953	broad.mit.edu	37	chr1	66102514	66102514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtatcgtgcccattccCagccccctgtttattcacgg	7	11	9	14	2	1	0	1	0	0	0	3	0	2	0	4	2	2	2	4	2	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:66102514C>A	ENST00000349533.6	+	20	3499	c.3314C>A	c.(3313-3315)cCa>cAa	p.P1105Q	LEPR_ENST00000406510.3_Missense_Mutation_p.P172Q	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1105					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGCCCATTCCCAGCCCCCTGT	0.398													18	40					1.45105e-14	1.86737e-14	1	0	A	66102514	C	A	66102514	3	1	395	1	0	0	0	0	1	0	0	0	8781	594	21	4	3614	4	LEPR	1	66102514	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	22277567	66102514	183148107	6	75680											
C1orf173	127254	broad.mit.edu	37	chr1	75036915	75036915	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggaagtgttgccatCgcctgtagactctccggact	7	12	10	12	2	2	1	1	0	1	1	4	3	2	3	3	2	1	2	3	2	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:75036915C>A	ENST00000326665.5	-	14	4697	c.4479G>T	c.(4477-4479)gcG>gcT	p.A1493A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1493										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGTTGCCATCGCCTGTAGAC	0.522													59	183					5.82218e-30	8.56639e-30	1	0	A	75036915	C	A	75036915	2	1	395	1	0	0	0	0	0	0	0	1	2033	871	31	3		3	C1orf173	1	75036915	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	8934401	75036915	174213706	7	75681											
SH3GLB1	51100	broad.mit.edu	37	chr1	87208083	87208083	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctatgattatgatgcAgcaaacagtactgaattatc	13	14	7	7	0	1	3	0	3	1	0	3	3	1	3	0	0	4	4	0	0	6	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:87208083A>C	ENST00000370558.4	+	8	1278	c.954A>C	c.(952-954)gcA>gcC	p.A318A	SH3GLB1_ENST00000482504.1_Silent_p.A339A|SH3GLB1_ENST00000535010.1_Silent_p.A218A	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	318	SH3.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ATTATGATGCAGCAAACAGTA	0.413													20	45					0	0	0	0	C	87208083	A	C	87208083	2	2	395	1	0	0	0	0	0	0	0	1	14341	175	7	5		5	SH3GLB1	1	87208083	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	12171168	87208083	162042538	8	75682											
ABCA4	24	broad.mit.edu	37	chr1	94544242	94544242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttcctaacgtgttccagTtcttcaaaagttgagttggc	10	14	8	9	1	2	1	1	1	1	0	4	1	4	1	2	1	2	4	2	1	4	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:94544242T>A	ENST00000370225.3	-	10	1346	c.1260A>T	c.(1258-1260)gaA>gaT	p.E420D	ABCA4_ENST00000535735.1_Missense_Mutation_p.E420D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	420					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGTGTTCCAGTTCTTCAAAAG	0.443													50	118					0	0	0	0	A	94544242	T	A	94544242	3	1	395	1	0	0	0	0	1	0	0	0	34	1722	60	5	5725	5	ABCA4	1	94544242	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	7336159	94544242	154706379	9	75683											
AMY2B	280	broad.mit.edu	37	chr1	104117863	104117863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaactggggagaaggttgGggtttcatgccttctgacag	9	10	16	6	0	2	2	1	1	1	1	2	4	2	3	1	6	2	2	1	6	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:104117863G>T	ENST00000361355.4	+	8	1513	c.897G>T	c.(895-897)tgG>tgT	p.W299C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	299					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAGAAGGTTGGGGTTTCATGC	0.418													104	531					3.92893e-35	5.91259e-35	1	0	T	104117863	G	T	104117863	3	4	395	1	0	0	0	0	1	0	0	0	595	1241	43	4	919	4	AMY2B	1	104117863	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9573621	104117863	145132758	10	75684											
PHGDH	26227	broad.mit.edu	37	chr1	120254774	120254774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagaggagctgatagcGgagctgcaggtaaggcgaga	14	4	17	6	2	0	3	0	1	0	2	0	6	0	5	0	4	5	5	0	4	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:120254774G>A	ENST00000369409.4	+	1	265	c.129G>A	c.(127-129)gcG>gcA	p.A43A		NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	43					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	AGCTGATAGCGGAGCTGCAGG	0.582													3	32					0	0	0	0	A	120254774	G	A	120254774	2	1	395	1	0	0	0	0	0	0	0	1	11913	1103	39	1		1	PHGDH	1	120254774	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	16136911	120254774	128995847	11	75685											
FLG	2312	broad.mit.edu	37	chr1	152277874	152277874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcctcattacgtgttgttCtgcttgcacttctggatcct	4	18	8	11	1	3	0	1	0	2	0	5	1	5	1	2	1	3	5	2	1	1	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:152277874C>G	ENST00000368799.1	-	3	9523	c.9488G>C	c.(9487-9489)aGa>aCa	p.R3163T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3163	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTGTTGTTCTGCTTGCACT	0.542									Ichthyosis				136	352					0	0	0	0	G	152277874	C	G	152277874	3	3	395	1	0	0	0	0	1	0	0	0	5967	913	32	2	2701	2	FLG	1	152277874	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	32023100	152277874	96972747	12	75686											
EFNA3	1944	broad.mit.edu	37	chr1	155057634	155057634	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatatttactgcccgcacTacaacagctcgggggtgggc	8	9	13	11	2	0	0	0	0	0	0	1	1	0	1	1	4	5	2	1	4	4	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:155057634T>G	ENST00000368408.3	+	2	266	c.196T>G	c.(196-198)Tac>Gac	p.Y66D	EFNA3_ENST00000418360.2_Missense_Mutation_p.Y66D|EFNA3_ENST00000556931.1_Missense_Mutation_p.Y61D|EFNA3_ENST00000505139.1_Missense_Mutation_p.Y61D	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	66					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCCGCACTACAACAGCTC	0.652													21	66					0	0	0	0	G	155057634	T	G	155057634	3	3	395	1	0	0	0	0	1	0	0	0	4988	1522	53	5	202	5	EFNA3	1	155057634	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	2779760	155057634	94192987	13	75687											
CD1E	913	broad.mit.edu	37	chr1	158325293	158325293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatactgcaaagccttcttGgtcacacctgccctcgattt	10	12	6	13	1	2	0	1	0	1	0	3	1	2	0	3	1	4	1	3	1	3	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:158325293G>C	ENST00000444681.2	+	2	555	c.262G>C	c.(262-264)Ggt>Cgt	p.G88R	CD1E_ENST00000368167.3_Missense_Mutation_p.G187R|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G187R|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G187R|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G187R|CD1E_ENST00000434258.1_Missense_Mutation_p.G185R|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368164.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	187					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAGCCTTCTTGGTCACACCTG	0.527													14	32					0	0	0	0	C	158325293	G	C	158325293	3	2	395	1	0	0	0	0	1	0	0	0	3007	1348	47	4	569	4	CD1E	1	158325293	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3267659	158325293	90925328	14	75688											
GPR161	23432	broad.mit.edu	37	chr1	168073877	168073878	+	Frame_Shift_Del	DEL	AG	AG	-																															cggacagcaggaagttggacAgagtcaggctgaagacgaac																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:168073877_168073878delAG	ENST00000367838.1	-	4	524_525	c.211_212delCT	c.(211-213)gfs	p.L71fs	GPR161_ENST00000367836.1_Intron|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000537209.1_Frame_Shift_Del_p.L91fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.L71fs|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000271357.5_Frame_Shift_Del_p.L71fs|GPR161_ENST00000361697.2_Frame_Shift_Del_p.L71fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	71					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAAGTTGGACAGAGTCAGGCTG	0.53													38	101	---	---	---	---					-	168073878	AG	-	168073877	7	5	395	1	0	1	0	1	0	0	0	0	6714	188	7	0	1397	0	GPR161	1	168073877	Frame_Shift_Del	DEL	AG	TCGA-DQ-7595-01A-11D-2229-08	9748584	168073877	81176744	15	75689											
BLZF1	8548	broad.mit.edu	37	chr1	169345927	169345927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagttccatcagagagcCcaggagttcttcagctaggg	11	8	12	10	0	3	1	2	0	1	1	4	3	4	2	2	2	3	4	2	2	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:169345927C>T	ENST00000367808.3	+	3	601	c.178C>T	c.(178-180)Cca>Tca	p.P60S	BLZF1_ENST00000367807.3_Missense_Mutation_p.P60S|BLZF1_ENST00000329281.2_Missense_Mutation_p.P60S			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	60					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCAGAGAGCCCAGGAGTTCT	0.423													21	65					0	0	0	0	T	169345927	C	T	169345927	3	4	395	1	0	0	0	0	1	0	0	0	1458	623	22	4	184	4	BLZF1	1	169345927	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1272050	169345927	79904694	16	75690											
RC3H1	149041	broad.mit.edu	37	chr1	173912638	173912638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctggtgcagttccaagCtcaactgctcacttgagatc	9	10	8	14	0	2	1	2	1	0	1	4	2	3	1	3	1	4	4	3	1	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:173912638C>G	ENST00000367696.2	-	18	3428	c.3077G>C	c.(3076-3078)aGc>aCc	p.S1026T	RC3H1_ENST00000367694.2_Missense_Mutation_p.S1017T|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1026T			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1026					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGTTCCAAGCTCAACTGCTC	0.547													47	112					0	0	0	0	G	173912638	C	G	173912638	3	3	395	1	0	0	0	0	1	0	0	0	13248	797	28	4	336	4	RC3H1	1	173912638	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	4566711	173912638	75337983	17	75691											
RC3H1	149041	broad.mit.edu	37	chr1	173912667	173912667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacttgagatcatcccaggCcattttggaggtggcggtgg	7	11	14	9	1	2	1	2	1	0	1	3	3	3	2	2	6	0	0	2	6	0	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:173912667C>G	ENST00000367696.2	-	18	3399	c.3048G>C	c.(3046-3048)tgG>tgC	p.W1016C	RC3H1_ENST00000367694.2_Missense_Mutation_p.W1007C|RC3H1_ENST00000258349.4_Missense_Mutation_p.W1016C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1016					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCATCCCAGGCCATTTTGGAG	0.547													39	86					0	0	0	0	G	173912667	C	G	173912667	3	3	395	1	0	0	0	0	1	0	0	0	13248	740	26	4	365	4	RC3H1	1	173912667	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	29	173912667	75337954	18	75692											
TNN	63923	broad.mit.edu	37	chr1	175067630	175067630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaggagcagagcagcaCagtcctgacaggcctgagac	12	3	16	10	0	0	3	0	2	0	2	1	6	1	5	2	4	3	3	2	4	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:175067630C>G	ENST00000239462.4	+	9	2131	c.2018C>G	c.(2017-2019)aCa>aGa	p.T673R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	673	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAGCAGCACAGTCCTGACA	0.632													34	72					0	0	0	0	G	175067630	C	G	175067630	3	3	395	1	0	0	0	0	1	0	0	0	16417	478	17	4	2048	4	TNN	1	175067630	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1154963	175067630	74182991	19	75693											
PAPPA2	60676	broad.mit.edu	37	chr1	176668584	176668584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagaggatagagattgAtgcagcactcctgacttctc	11	11	11	8	0	1	5	0	4	1	2	3	8	2	6	1	1	2	2	1	1	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:176668584A>T	ENST00000367662.3	+	8	4259	c.3095A>T	c.(3094-3096)gAt>gTt	p.D1032V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1032					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATAGAGATTGATGCAGCACTC	0.537													38	103					0	0	0	0	T	176668584	A	T	176668584	3	4	395	1	0	0	0	0	1	0	0	0	11504	333	12	5	3174	5	PAPPA2	1	176668584	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	1600954	176668584	72582037	20	75694											
CFHR5	81494	broad.mit.edu	37	chr1	196973962	196973962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacagtggtcagaaccacCaagatgcctaggtgagttct	13	9	10	9	0	2	3	1	1	1	2	2	3	2	3	3	2	3	1	3	2	5	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:196973962C>T	ENST00000367414.5	+	9	1630	c.1574C>T	c.(1573-1575)cCa>cTa	p.P525L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P501L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	501	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCAGAACCACCAAGATGCCTA	0.373													14	68					0	0	0	0	T	196973962	C	T	196973962	3	4	395	1	0	0	0	0	1	0	0	0	3317	594	21	4	1536	4	CFHR5	1	196973962	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	20305378	196973962	52276659	21	75695											
CRB1	23418	broad.mit.edu	37	chr1	197446935	197446935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaacctacagccccagcCgtcaggagaaggagggctcc	11	3	14	13	1	1	1	1	0	0	1	2	4	2	3	5	4	4	1	5	4	3	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:197446935C>A	ENST00000367400.3	+	12	4282	c.4147C>A	c.(4147-4149)Cgt>Agt	p.R1383S	CRB1_ENST00000367399.2_Missense_Mutation_p.R1271S|CRB1_ENST00000538660.1_Missense_Mutation_p.R847S|CRB1_ENST00000535699.1_Missense_Mutation_p.R1359S|CRB1_ENST00000544212.1_Missense_Mutation_p.R864S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1383			R -> H (in RP12).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGCCCCAGCCGTCAGGAGAA	0.542													19	75					2.94398e-08	3.38338e-08	1	0	A	197446935	C	A	197446935	3	1	395	1	0	0	0	0	1	0	0	0	3878	652	23	3	4193	3	CRB1	1	197446935	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	472973	197446935	51803686	22	75696											
PTPRC	5788	broad.mit.edu	37	chr1	198671622	198671622	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctgctgccttacctgcAcgcacctccaacaccaccat	9	8	5	19	1	1	0	0	0	1	0	2	0	2	0	6	0	6	4	6	0	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:198671622A>G	ENST00000367376.2	+	6	711	c.540A>G	c.(538-540)gcA>gcG	p.A180A	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000442510.2_Silent_p.A182A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	180					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTTACCTGCACGCACCTCCA	0.502													10	259					0	0	0	0	G	198671622	A	G	198671622	2	3	395	1	0	0	0	0	0	0	0	1	12879	146	6	5		5	PTPRC	1	198671622	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	1224687	198671622	50578999	23	75697											
PPP1R12B	4660	broad.mit.edu	37	chr1	202406978	202406978	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctttttaacaagccagaAgagcccaaagatgaatctcc	14	8	8	11	0	1	4	0	1	1	3	2	4	1	4	4	1	3	0	4	1	5	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:202406978A>G	ENST00000406302.3	+	10	1437	c.1284A>G	c.(1282-1284)gaA>gaG	p.E428E	PPP1R12B_ENST00000480184.1_Silent_p.E428E|PPP1R12B_ENST00000336894.4_Silent_p.E428E|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	428					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACAAGCCAGAAGAGCCCAAAG	0.413													18	55					0	0	0	0	G	202406978	A	G	202406978	2	3	395	1	0	0	0	0	0	0	0	1	12431	69	3	5		5	PPP1R12B	1	202406978	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	3735356	202406978	46843643	24	75698											
USH2A	7399	broad.mit.edu	37	chr1	216074184	216074184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattacgagctggtgtagacCagacaacctgaagactggtt	12	10	11	8	1	0	4	0	1	0	3	0	5	0	4	2	2	3	3	2	2	5	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:216074184C>A	ENST00000366943.2	-	39	7750	c.7364G>T	c.(7363-7365)tGg>tTg	p.W2455L	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W2455L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2455	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTGTAGACCAGACAACCTG	0.512										HNSCC(13;0.011)			30	76					1.88708e-17	2.54922e-17	1	0	A	216074184	C	A	216074184	3	1	395	1	0	0	0	0	1	0	0	0	17132	595	21	4	8380	4	USH2A	1	216074184	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	13667206	216074184	33176437	25	75699											
USH2A	7399	broad.mit.edu	37	chr1	216262432	216262432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgccattttccatcaCtatattgtttgccatgatca	9	18	4	10	0	3	1	3	1	0	0	4	1	4	1	3	0	2	1	3	0	2	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:216262432C>T	ENST00000366943.2	-	23	5194	c.4808G>A	c.(4807-4809)aGt>aAt	p.S1603N	USH2A_ENST00000307340.3_Missense_Mutation_p.S1603N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1603	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTTCCATCACTATATTGTTT	0.333										HNSCC(13;0.011)			27	74					0	0	0	0	T	216262432	C	T	216262432	3	4	395	1	0	0	0	0	1	0	0	0	17132	565	20	4	11000	4	USH2A	1	216262432	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	188248	216262432	32988189	26	75700											
SLC30A10	55532	broad.mit.edu	37	chr1	220101747	220101747	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggtgagcaccagcatgaaGagcagccggcacgtcttgcc	10	5	13	13	3	1	3	0	2	1	1	1	3	1	3	3	2	5	4	3	2	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:220101747G>C	ENST00000366926.3	-	1	197	c.36C>G	c.(34-36)ctC>ctG	p.L12L	SLC30A10_ENST00000536992.1_Silent_p.L12L|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	12					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CCAGCATGAAGAGCAGCCGGC	0.701													13	28					0	0	0	0	C	220101747	G	C	220101747	2	2	395	1	0	0	0	0	0	0	0	1	14642	929	33	2		2	SLC30A10	1	220101747	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3839315	220101747	29148874	27	75701											
RYR2	6262	broad.mit.edu	37	chr1	237433881	237433881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaaggatttggcaacAgactttgtttcttggagtcc	10	12	11	8	0	1	2	0	0	1	2	2	4	2	4	1	3	2	3	1	3	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:237433881A>G	ENST00000366574.2	+	2	450	c.133A>G	c.(133-135)Aga>Gga	p.R45G	RYR2_ENST00000360064.6_Silent_p.T42T|RYR2_ENST00000542537.1_Missense_Mutation_p.R29G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	45					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTGGCAACAGACTTTGTTT	0.433													8	12					0	0	0	0	G	237433881	A	G	237433881	3	3	395	1	0	0	0	0	1	0	0	0	13854	180	7	5	139	5	RYR2	1	237433881	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	17332134	237433881	11816740	28	75702											
ZP4	57829	broad.mit.edu	37	chr1	238050152	238050152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagttcattttcatatactGctcggtctccagtgatctac	8	15	6	12	1	4	1	2	1	2	0	6	1	4	1	2	1	3	2	2	1	3	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:238050152G>A	ENST00000366570.4	-	6	916	c.758C>T	c.(757-759)gCa>gTa	p.A253V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	253	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTCATATACTGCTCGGTCTCC	0.468													23	92					0	0	0	0	A	238050152	G	A	238050152	3	1	395	1	0	0	0	0	1	0	0	0	18311	1319	46	4	892	4	ZP4	1	238050152	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	616271	238050152	11200469	29	75703											
FMN2	56776	broad.mit.edu	37	chr1	240370796	240370796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctactctgcccagtacagCcattccccaacctcctcctc	7	9	4	21	0	1	0	0	0	1	0	5	0	4	0	8	0	5	1	8	0	3	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:240370796C>A	ENST00000319653.9	+	5	2914	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	895	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCAGTACAGCCATTCCCCAA	0.657													35	76					7.11191e-15	9.28164e-15	1	0	A	240370796	C	A	240370796	3	1	395	1	0	0	0	0	1	0	0	0	5995	739	26	4	2702	4	FMN2	1	240370796	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2320644	240370796	8879825	30	75704											
NLRP3	114548	broad.mit.edu	37	chr1	247607419	247607419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtgagggactcttgcacCccgactgcaagcttcaggtg	7	10	12	12	1	3	1	1	1	2	0	3	3	3	2	2	2	3	3	2	2	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:247607419C>A	ENST00000366497.2	+	7	3424	c.2644C>A	c.(2644-2646)Ccc>Acc	p.P882T	NLRP3_ENST00000348069.2_Missense_Mutation_p.P825T|NLRP3_ENST00000391827.2_Missense_Mutation_p.P882T|NLRP3_ENST00000391828.3_Missense_Mutation_p.P939T|NLRP3_ENST00000336119.3_Missense_Mutation_p.P939T|NLRP3_ENST00000366496.2_Missense_Mutation_p.P882T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	939					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			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)			ACTCTTGCACCCCGACTGCAA	0.522													26	64					1.04121e-07	1.18483e-07	1	0	A	247607419	C	A	247607419	3	1	395	1	0	0	0	0	1	0	0	0	10548	623	22	4	2841	4	NLRP3	1	247607419	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	7236623	247607419	1643202	31	75705											
OR6F1	343169	broad.mit.edu	37	chr1	247875546	247875546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagtggttgatggcacggGggccacagaaggacaggcca	12	4	17	8	1	0	3	0	1	0	2	0	4	0	4	2	6	0	2	2	6	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:247875546G>T	ENST00000302084.2	-	1	559	c.512C>A	c.(511-513)cCc>cAc	p.P171H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATGGCACGGGGGCCACAGAA	0.597													29	94					1.77063e-15	2.35744e-15	1	0	T	247875546	G	T	247875546	3	4	395	1	0	0	0	0	1	0	0	0	11272	1232	43	4	418	4	OR6F1	1	247875546	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	268127	247875546	1375075	32	75706											
OR2L8	391190	broad.mit.edu	37	chr1	248113027	248113027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcaaccccatcatctatAgcctgaggaacaaggaggtg	12	8	10	11	0	3	1	2	1	1	0	3	3	3	3	3	3	4	1	3	3	5	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:248113027A>G	ENST00000357191.3	+	1	868	c.868A>G	c.(868-870)Agc>Ggc	p.S290G	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCATCTATAGCCTGAGGAA	0.502													19	62					0	0	0	0	G	248113027	A	G	248113027	3	3	395	1	0	0	0	0	1	0	0	0	11080	420	15	5	870	5	OR2L8	1	248113027	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	237481	248113027	1137594	33	75707											
OR2L3	391192	broad.mit.edu	37	chr1	248224614	248224615	+	Frame_Shift_Ins	INS	-	-	T																															ctttctcgtgtttcccttcaINSttgctatttcatgttcctat																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:248224614_248224615insT	ENST00000359959.3	+	1	631_632	c.631_632insT	c.(631-633)tgcfs	p.C211fs	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GTTTCCCTTCATTGCTATTTCA	0.52													58	152	---	---	---	---					T	248224615	-	T	248224614	7	5	395	1	0	1	1	0	0	0	0	0	11079	217	8	0	633	0	OR2L3	1	248224614	Frame_Shift_Ins	INS	-	TCGA-DQ-7595-01A-11D-2229-08	111587	248224614	1026007	34	75708											
OR2T1	26696	broad.mit.edu	37	chr1	248569335	248569335	+	Frame_Shift_Del	DEL	C	C	-																															ttttaaatgttttcttcccaCttttaaaagtttgctgccta																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:248569335delC	ENST00000366474.1	+	1	40	c.40delC	c.(40-42)ttfs	p.L15fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCTTCCCACTTTTAAAAGT	0.308													33	69	---	---	---	---					-	248569335	C	-	248569335	7	5	395	1	0	1	0	1	0	0	0	0	11087	565	20	0	42	0	OR2T1	1	248569335	Frame_Shift_Del	DEL	C	TCGA-DQ-7595-01A-11D-2229-08	344721	248569335	681286	35	75709											
OR2T1	26696	broad.mit.edu	37	chr1	248569862	248569862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtcctcatgagccgccgGgtctgttggatgattatagc	6	12	12	11	2	2	2	1	2	1	0	3	3	3	3	4	2	2	1	4	2	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:248569862G>T	ENST00000366474.1	+	1	567	c.567G>T	c.(565-567)cgG>cgT	p.R189R		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGCCGCCGGGTCTGTTGGA	0.557													47	85					2.65591e-33	3.97097e-33	1	0	T	248569862	G	T	248569862	2	4	395	1	0	0	0	0	0	0	0	1	11087	1219	43	4		4	OR2T1	1	248569862	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	527	248569862	680759	36	75710											
GTF3C2	2976	broad.mit.edu	37	chr2	27551754	27551754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgaagtaggccttgaaaCcaaggtaaccagcgtcaata	15	7	10	9	1	1	2	1	2	0	0	1	2	1	2	3	2	3	2	3	2	7	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:27551754C>G	ENST00000359541.2	-	15	2513	c.2084G>C	c.(2083-2085)gGt>gCt	p.G695A	GTF3C2_ENST00000264720.3_Missense_Mutation_p.G695A			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	695						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTGAAACCAAGGTAACC	0.393													25	20					0	0	0	0	G	27551754	C	G	27551754	3	3	395	1	0	0	0	0	1	0	0	0	6923	507	18	4	671	4	GTF3C2	2	27551754	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		27551754	215647619	37	75711											
FEZ2	9637	broad.mit.edu	37	chr2	36805971	36805971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcagtctcaatttcttccagGatttcatttaactcagacac	11	14	5	11	0	4	1	3	0	2	1	6	2	5	2	1	1	1	1	1	1	2	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:36805971G>C	ENST00000379245.4	-	5	720	c.672C>G	c.(670-672)atC>atG	p.I224M	FEZ2_ENST00000305852.7_Missense_Mutation_p.I53M|FEZ2_ENST00000405912.3_Missense_Mutation_p.I224M	NM_001042548.1	NP_001036013.1	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	224					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				TTTCTTCCAGGATTTCATTTA	0.398													15	72					0	0	0	0	C	36805971	G	C	36805971	3	2	395	1	0	0	0	0	1	0	0	0	5869	1164	41	2	490	2	FEZ2	2	36805971	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9254217	36805971	206393402	38	75712											
VRK2	7444	broad.mit.edu	37	chr2	58373462	58373462	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccaacaggttgattcacaAaaggctgcaacaaagcaagt	17	7	8	9	0	1	1	1	1	0	0	1	1	1	1	1	2	5	4	1	2	7	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:58373462A>G	ENST00000435505.2	+	15	1780	c.1035A>G	c.(1033-1035)caA>caG	p.Q345Q	VRK2_ENST00000440705.2_Silent_p.Q322Q|VRK2_ENST00000412104.2_Silent_p.Q345Q|VRK2_ENST00000340157.4_Silent_p.Q345Q|VRK2_ENST00000417641.2_Silent_p.Q345Q			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	345						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTGATTCACAAAAGGCTGCAA	0.358													18	41					0	0	0	0	G	58373462	A	G	58373462	2	3	395	1	0	0	0	0	0	0	0	1	17316	11	1	5		5	VRK2	2	58373462	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	21567491	58373462	184825911	39	75713											
ACTR2	10097	broad.mit.edu	37	chr2	65482681	65482681	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctattgttttgtaccagctActtctgttgcgaggatacgc	7	15	10	9	2	1	0	0	0	1	0	1	2	1	1	1	1	5	5	1	1	4	9			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:65482681A>C	ENST00000260641.5	+	6	745	c.588A>C	c.(586-588)ctA>ctC	p.L196L	ACTR2_ENST00000542850.1_Silent_p.L141L|ACTR2_ENST00000377982.4_Silent_p.L201L	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	196					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TGTACCAGCTACTTCTGTTGC	0.358													24	70					0	0	0	0	C	65482681	A	C	65482681	2	2	395	1	0	0	0	0	0	0	0	1	211	378	14	5		5	ACTR2	2	65482681	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	7109219	65482681	177716692	40	75714											
ADD2	119	broad.mit.edu	37	chr2	70915202	70915202	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatcttgtaaaatgccTcctctaccgtgtcacccaga	11	10	8	12	1	3	2	1	0	2	2	4	3	4	3	4	1	2	1	4	1	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:70915202T>A	ENST00000264436.3	-	9	1346	c.902A>T	c.(901-903)gAg>gTg	p.E301V	AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.E301V|ADD2_ENST00000407644.2_Missense_Mutation_p.E301V|ADD2_ENST00000355733.3_Missense_Mutation_p.E301V|ADD2_ENST00000430656.1_Missense_Mutation_p.E317V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	301					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTAAAATGCCTCCTCTACCGT	0.478													19	45					0	0	0	0	A	70915202	T	A	70915202	3	1	395	1	0	0	0	0	1	0	0	0	305	1551	54	5	1487	5	ADD2	2	70915202	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	5432521	70915202	172284171	41	75715											
CTNNA2	1496	broad.mit.edu	37	chr2	80646682	80646682	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgaaaaggaagtgaaaGaatatgcccaagttttccgt	17	9	10	5	1	0	3	0	2	0	1	1	5	1	4	2	1	1	1	2	1	8	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:80646682G>T	ENST00000466387.1	+	13	1970	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E95*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E450*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	416					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.E416*(1)		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						GGAAGTGAAAGAATATGCCCA	0.448													23	61					1.10513e-12	1.38742e-12	1	0	T	80646682	G	T	80646682	4	4	395	1	0	0	0	0	0	1	0	0	4045	943	33	2	1068	2	CTNNA2	2	80646682	Nonsense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9731480	80646682	162552691	42	75716											
SMYD1	150572	broad.mit.edu	37	chr2	88387425	88387425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggagagagaaggcaccgGgctcacggagggctgcctgg	8	4	20	9	2	1	2	1	0	0	2	1	5	1	3	2	7	1	3	2	7	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:88387425G>T	ENST00000419482.2	+	3	444	c.359G>T	c.(358-360)gGg>gTg	p.G120V	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.G120V	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAAGGCACCGGGCTCACGGAG	0.632													8	40					0.000157383	0.000167924	1	0	T	88387425	G	T	88387425	3	4	395	1	0	0	0	0	1	0	0	0	14909	1232	43	4	369	4	SMYD1	2	88387425	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	7740743	88387425	154811948	43	75717											
TEKT4	150483	broad.mit.edu	37	chr2	95540560	95540560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccaagttcacgcaggaCaatctgtgccgtgcccagcg	8	6	13	14	4	2	0	1	0	1	0	2	1	2	1	3	2	3	2	3	2	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:95540560C>A	ENST00000295201.4	+	4	890	c.753C>A	c.(751-753)gaC>gaA	p.D251E	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	251					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCACGCAGGACAATCTGTGCC	0.716													4	12					0.00909568	0.00935903	1	0	A	95540560	C	A	95540560	3	1	395	1	0	0	0	0	1	0	0	0	15849	477	17	4	767	4	TEKT4	2	95540560	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	7153135	95540560	147658813	44	75718											
GCC2	9648	broad.mit.edu	37	chr2	109098761	109098761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgaaacaataaattctGataatgaagatctcctggct	15	12	8	6	0	2	4	0	3	2	1	3	4	2	4	1	1	1	1	1	1	6	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:109098761G>T	ENST00000309863.6	+	11	3913	c.3199G>T	c.(3199-3201)Gat>Tat	p.D1067Y		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1067					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AATAAATTCTGATAATGAAGA	0.333													13	34					3.27435e-08	3.75372e-08	1	0	T	109098761	G	T	109098761	3	4	395	1	0	0	0	0	1	0	0	0	6335	1290	45	2	3241	2	GCC2	2	109098761	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	13558201	109098761	134100612	45	75719											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504927	125504927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagctgcctggacattcaGcacttttgcaattgcgacgc	9	10	11	11	2	1	1	1	0	0	1	1	4	1	2	1	1	5	3	1	1	1	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:125504927G>T	ENST00000431078.1	+	14	2560	c.2196G>T	c.(2194-2196)caG>caT	p.Q732H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	732	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGACATTCAGCACTTTTGCA	0.493													37	108					1.07121e-22	1.53219e-22	1	0	T	125504927	G	T	125504927	3	4	395	1	0	0	0	0	1	0	0	0	3680	962	34	4	2250	4	CNTNAP5	2	125504927	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	16406166	125504927	117694446	46	75720											
THSD7B	80731	broad.mit.edu	37	chr2	137814025	137814025	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggagactgtggtcccGgaggagtccagagtcgggca	9	6	17	9	2	0	2	0	0	0	2	3	5	2	4	2	5	1	2	2	5	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:137814025G>T	ENST00000409968.1	+	3	353	c.175G>T	c.(175-177)Gga>Tga	p.G59*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.G28*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.G59*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTGGTCCCGGAGGAGTCCA	0.493													10	44					0.38729	0.38729	1	0	T	137814025	G	T	137814025	4	4	395	1	0	0	0	0	0	1	0	0	15974	1117	39	3	88	3	THSD7B	2	137814025	Nonsense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	12309098	137814025	105385348	47	75721											
LRP1B	53353	broad.mit.edu	37	chr2	141083346	141083346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccttgtttgctgctgaCagagactactgaattagagc	12	11	9	9	0	0	4	0	2	0	2	0	5	0	4	1	0	5	3	1	0	4	4	rs141655851	byFrequency	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:141083346C>T	ENST00000389484.3	-	80	13296	c.12325G>A	c.(12325-12327)Gtc>Atc	p.V4109I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4109					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCTGCTGACAGAGACTACT	0.358										TSP Lung(27;0.18)			16	38					0	0	0	0	T	141083346	C	T	141083346	3	4	395	1	0	0	0	0	1	0	0	0	9019	478	17	4	1522	4	LRP1B	2	141083346	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3269321	141083346	102116027	48	75722											
UPP2	151531	broad.mit.edu	37	chr2	158958578	158958578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcacatagtagagagaatGgcttcagttatacctgcctc	11	13	8	9	0	2	2	2	0	0	2	3	3	2	2	2	1	2	3	2	1	5	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:158958578G>A	ENST00000605860.1	+	4	220	c.174G>A	c.(172-174)atG>atA	p.M58I	UPP2_ENST00000409859.4_Missense_Mutation_p.M58I|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000005756.4_Start_Codon_SNP_p.M1I			O95045	UPP2_HUMAN	uridine phosphorylase 2	1					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TAGAGAGAATGGCTTCAGTTA	0.333													31	102					0	0	0	0	A	158958578	G	A	158958578	3	1	395	1	0	0	0	0	1	0	0	0	17109	1348	47	4	184	4	UPP2	2	158958578	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	17875232	158958578	84240795	49	75723											
LY75	4065	broad.mit.edu	37	chr2	160710981	160710981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcatagtttaggtgaaGatcagcaacaaaccaatatt	15	13	6	7	0	3	2	2	1	1	1	3	2	3	2	1	1	3	2	1	1	7	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:160710981G>T	ENST00000263636.4	-	18	2512	c.2485C>A	c.(2485-2487)Ctt>Att	p.L829I	LY75_ENST00000554112.1_Missense_Mutation_p.L829I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L829I|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L829I|LY75_ENST00000553424.1_Missense_Mutation_p.L829I	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTAGGTGAAGATCAGCAACA	0.378													19	45					1.33834e-09	1.58949e-09	1	0	T	160710981	G	T	160710981	3	4	395	1	0	0	0	0	1	0	0	0	9164	942	33	2	2755	2	LY75	2	160710981	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1752403	160710981	82488392	50	75724											
SLC4A10	57282	broad.mit.edu	37	chr2	162761309	162761309	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattgaatctctctttggAgcatccatgaccgggatagc	10	11	10	10	1	2	2	0	2	2	0	4	4	3	4	2	2	2	2	2	2	3	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:162761309A>G	ENST00000375514.5	+	14	1871	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G	SLC4A10_ENST00000272716.5_Silent_p.G517G|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000446997.1_Silent_p.G547G|SLC4A10_ENST00000421911.1_Silent_p.G547G|SLC4A10_ENST00000415876.2_Silent_p.G517G	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	547					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCTCTTTGGAGCATCCATGA	0.398													30	91					0	0	0	0	G	162761309	A	G	162761309	2	3	395	1	0	0	0	0	0	0	0	1	14739	291	11	5		5	SLC4A10	2	162761309	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	2050328	162761309	80438064	51	75725											
FIGN	55137	broad.mit.edu	37	chr2	164466801	164466801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgaggtaaggccgtcagtCcactgaacgcgtctgacctc	8	8	11	14	4	2	2	1	2	1	0	5	3	4	2	4	2	1	1	4	2	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:164466801C>A	ENST00000333129.3	-	3	1855	c.1541G>T	c.(1540-1542)gGa>gTa	p.G514V	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	514						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GGCCGTCAGTCCACTGAACGC	0.527													27	61					3.1745e-13	4.01813e-13	1	0	A	164466801	C	A	164466801	3	1	395	1	0	0	0	0	1	0	0	0	5936	855	30	2	742	2	FIGN	2	164466801	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1705492	164466801	78732572	52	75726											
FASTKD1	79675	broad.mit.edu	37	chr2	170403042	170403042	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatacatgtgatcatgctGaatccatcttaaaacagatg	16	11	6	8	0	2	3	1	2	1	1	3	3	3	3	1	0	3	1	1	0	5	2	rs148253352	by1000genomes	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:170403042G>A	ENST00000453153.2	-	8	1733	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*	FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.Q463*	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	463					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGATCATGCTGAATCCATCTT	0.398													20	56					0	0	0	0	A	170403042	G	A	170403042	4	1	395	1	0	0	0	0	0	1	0	0	5730	1299	45	2	1188	2	FASTKD1	2	170403042	Nonsense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	5936241	170403042	72796331	53	75727											
HOXD12	3238	broad.mit.edu	37	chr2	176964665	176964665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccctatctcctacccgCgcggcgcgctgccctgggcc	2	8	10	21	5	1	0	0	0	1	0	3	0	2	0	6	2	2	1	6	2	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:176964665C>A	ENST00000406506.2	+	1	208	c.136C>A	c.(136-138)Cgc>Agc	p.R46S	HOXD12_ENST00000404162.2_Missense_Mutation_p.R46S			P35452	HXD12_HUMAN	homeobox D12	46				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		CTCCTACCCGCGCGGCGCGCT	0.711													14	60					4.36969e-10	5.21653e-10	1	0	A	176964665	C	A	176964665	3	1	395	1	0	0	0	0	1	0	0	0	7371	768	27	3	138	3	HOXD12	2	176964665	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	6561623	176964665	66234708	54	75728											
TTN	7273	broad.mit.edu	37	chr2	179419652	179419652	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcattccttagttttaattCatagcatccactattaaggc	11	15	6	9	0	1	0	1	0	0	0	3	0	3	0	2	2	1	3	2	2	5	8			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179419652C>G	ENST00000589042.1	-	331	88758	c.88534G>C	c.(88534-88536)Gaa>Caa	p.E29512Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27871Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20447Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20639Q|TTN_ENST00000359218.5_Missense_Mutation_p.E20572Q|TTN_ENST00000342992.6_Missense_Mutation_p.E26944Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27871	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTTAATTCATAGCATCCA	0.433													18	39					0	0	0	0	G	179419652	C	G	179419652	3	3	395	1	0	0	0	0	1	0	0	0	16831	835	29	2	19573	2	TTN	2	179419652	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2454987	179419652	63779721	55	75729											
TTN	7273	broad.mit.edu	37	chr2	179429100	179429100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatcagatggttcactaaaGtttccagctgcatttcttgc	9	15	7	10	0	3	1	2	0	1	1	4	1	4	1	1	1	3	4	1	1	3	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179429100G>T	ENST00000589042.1	-	326	81983	c.81759C>A	c.(81757-81759)aaC>aaA	p.N27253K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N25612K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N18188K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N18380K|TTN_ENST00000359218.5_Missense_Mutation_p.N18313K|TTN_ENST00000342992.6_Missense_Mutation_p.N24685K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25612	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCACTAAAGTTTCCAGCTG	0.378													21	45					1.01871e-10	1.22564e-10	1	0	T	179429100	G	T	179429100	3	4	395	1	0	0	0	0	1	0	0	0	16831	1020	36	4	26368	4	TTN	2	179429100	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9448	179429100	63770273	56	75730											
TTN	7273	broad.mit.edu	37	chr2	179439997	179439997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgctccttgacaatgacgGgtctgctttctctaggggca	6	13	11	11	1	3	2	0	2	3	0	5	2	4	2	1	3	2	3	1	3	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179439997G>A	ENST00000589042.1	-	326	71086	c.70862C>T	c.(70861-70863)cCc>cTc	p.P23621L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21980L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14556L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14748L|TTN_ENST00000359218.5_Missense_Mutation_p.P14681L|TTN_ENST00000342992.6_Missense_Mutation_p.P21053L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21980	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACAATGACGGGTCTGCTTTC	0.478													11	39					0	0	0	0	A	179439997	G	A	179439997	3	1	395	1	0	0	0	0	1	0	0	0	16831	1232	43	4	37265	4	TTN	2	179439997	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	10897	179439997	63759376	57	75731											
TTN	7273	broad.mit.edu	37	chr2	179440030	179440030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggcacttctccccgcgCtgttcactgccatcacttgg	5	11	10	15	2	3	0	2	0	1	0	4	0	3	0	3	3	1	3	3	3	1	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179440030C>T	ENST00000589042.1	-	326	71053	c.70829G>A	c.(70828-70830)aGc>aAc	p.S23610N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S21969N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S14545N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14737N|TTN_ENST00000359218.5_Missense_Mutation_p.S14670N|TTN_ENST00000342992.6_Missense_Mutation_p.S21042N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21969	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCCCCGCGCTGTTCACTGC	0.507													11	44					0	0	0	0	T	179440030	C	T	179440030	3	4	395	1	0	0	0	0	1	0	0	0	16831	797	28	4	37298	4	TTN	2	179440030	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	33	179440030	63759343	58	75732											
TTN	7273	broad.mit.edu	37	chr2	179453495	179453495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccatcatattcaggtGgattccaaaccacagtcatc	12	11	5	13	0	3	0	3	0	0	0	6	1	5	1	4	2	1	0	4	2	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179453495G>T	ENST00000589042.1	-	304	63181	c.62957C>A	c.(62956-62958)cCa>cAa	p.P20986Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19345Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11921Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12113Q|TTN_ENST00000359218.5_Missense_Mutation_p.P12046Q|TTN_ENST00000342992.6_Missense_Mutation_p.P18418Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19345	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTCAGGTGGATTCCAAAC	0.428													20	75					1.2644e-06	1.4076e-06	1	0	T	179453495	G	T	179453495	3	4	395	1	0	0	0	0	1	0	0	0	16831	1348	47	4	45258	4	TTN	2	179453495	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	13465	179453495	63745878	59	75733											
TTN	7273	broad.mit.edu	37	chr2	179579026	179579026	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttttactaaccgagaacGgatagcgtggcgaagcactc	11	10	10	10	4	1	1	0	0	1	1	2	4	1	2	1	2	5	1	1	2	5	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179579026G>T	ENST00000589042.1	-	91	26699	c.26475C>A	c.(26473-26475)tcC>tcA	p.S8825S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S8508S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7581S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8508	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S7581S(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)			AACCGAGAACGGATAGCGTGG	0.398													25	82					3.73808e-20	5.23332e-20	1	0	T	179579026	G	T	179579026	2	4	395	1	0	0	0	0	0	0	0	1	16831	1103	39	3		3	TTN	2	179579026	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	125531	179579026	63620347	60	75734											
TTN	7273	broad.mit.edu	37	chr2	179598218	179598218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgtcacctggatcagttCtgctcgctcaatgattttgg	6	15	10	10	1	4	1	3	1	1	0	5	2	4	2	1	2	2	4	1	2	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179598218C>G	ENST00000589042.1	-	54	16026	c.15802G>C	c.(15802-15804)Gaa>Caa	p.E5268Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4951Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4024Q|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4951	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATCAGTTCTGCTCGCTCA	0.458													59	157					0	0	0	0	G	179598218	C	G	179598218	3	3	395	1	0	0	0	0	1	0	0	0	16831	922	32	2	88963	2	TTN	2	179598218	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	19192	179598218	63601155	61	75735											
TTN	7273	broad.mit.edu	37	chr2	179616519	179616519	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccgattgttatgaaaccaAgtcatttctggagttggaca	11	12	11	7	1	2	1	1	1	1	0	2	4	2	3	2	3	1	2	2	3	3	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179616519A>G	ENST00000360870.5	-	46	10830	c.10608T>C	c.(10606-10608)acT>acC	p.T3536T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3535	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGAAACCAAGTCATTTCTG	0.393													23	66					0	0	0	0	G	179616519	A	G	179616519	2	3	395	1	0	0	0	0	0	0	0	1	16831	59	3	5		5	TTN	2	179616519	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	18301	179616519	63582854	62	75736											
TTN	7273	broad.mit.edu	37	chr2	179632555	179632555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagttttgcagttgacacGttgcctcctgccaccactgt	8	12	9	12	1	0	2	0	1	0	1	1	2	1	2	4	0	3	4	4	0	1	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179632555G>T	ENST00000589042.1	-	40	9626	c.9402C>A	c.(9400-9402)aaC>aaA	p.N3134K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N3134K|TTN_ENST00000360870.5_Missense_Mutation_p.N3134K|TTN_ENST00000460472.2_Missense_Mutation_p.N3088K|TTN_ENST00000342175.6_Missense_Mutation_p.N3088K|TTN_ENST00000359218.5_Missense_Mutation_p.N3088K|TTN_ENST00000342992.6_Missense_Mutation_p.N3134K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2871	Ig-like 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTGACACGTTGCCTCCTG	0.428													37	89					6.90743e-12	8.50995e-12	1	0	T	179632555	G	T	179632555	3	4	395	1	0	0	0	0	1	0	0	0	16831	1136	40	3	101878	3	TTN	2	179632555	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	16036	179632555	63566818	63	75737											
DNAH7	56171	broad.mit.edu	37	chr2	196671535	196671535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttatcttcccattcttcagGgaaaacctcatggtgtggtt	8	16	8	9	0	4	0	2	0	2	0	5	1	5	1	2	3	1	1	2	3	3	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:196671535G>A	ENST00000312428.6	-	54	10205	c.10105C>T	c.(10105-10107)Cct>Tct	p.P3369S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3369					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTCTTCAGGGAAAACCTCA	0.338													9	33					0	0	0	0	A	196671535	G	A	196671535	3	1	395	1	0	0	0	0	1	0	0	0	4642	1232	43	4	2017	4	DNAH7	2	196671535	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	17038980	196671535	46527838	64	75738											
PLCL1	5334	broad.mit.edu	37	chr2	198953652	198953652	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaagcagtgcctgttaaCtctgtcatctcggctcatca	8	13	8	12	1	6	1	3	1	3	0	7	1	6	1	1	1	3	3	1	1	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:198953652C>A	ENST00000428675.1	+	3	3184	c.2786C>A	c.(2785-2787)aCt>aAt	p.T929N	PLCL1_ENST00000437704.2_Missense_Mutation_p.T831N	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	929					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGCCTGTTAACTCTGTCATCT	0.458													140	400					1.21703e-59	1.85567e-59	1	0	A	198953652	C	A	198953652	3	1	395	1	0	0	0	0	1	0	0	0	12111	565	20	4	2796	4	PLCL1	2	198953652	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2282117	198953652	44245721	65	75739											
MAP2	4133	broad.mit.edu	37	chr2	210557856	210557856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtccctttcaagggggaaGcttcactcttcctttagatg	9	13	9	10	0	3	1	2	0	1	1	5	2	5	2	2	2	1	1	2	2	4	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:210557856G>T	ENST00000360351.4	+	7	1468	c.962G>T	c.(961-963)aGc>aTc	p.S321I	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S317I|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	321					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAAGGGGGAAGCTTCACTCTT	0.428													14	52					4.14922e-12	5.13924e-12	1	0	T	210557856	G	T	210557856	3	4	395	1	0	0	0	0	1	0	0	0	9304	971	34	4	976	4	MAP2	2	210557856	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	11604204	210557856	32641517	66	75740											
EPHA4	2043	broad.mit.edu	37	chr2	222322667	222322667	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccagtgccacactgtaTcttgtgacttctttagcctg	8	13	8	12	0	2	1	0	1	2	0	2	1	2	1	3	0	3	1	3	0	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:222322667T>C	ENST00000281821.2	-	6	1403	c.1362A>G	c.(1360-1362)agA>agG	p.R454R	EPHA4_ENST00000409938.1_Silent_p.R454R|EPHA4_ENST00000392071.4_Silent_p.R403R|EPHA4_ENST00000409854.1_Silent_p.R454R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	454	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCACACTGTATCTTGTGACTT	0.388													24	66					0	0	0	0	C	222322667	T	C	222322667	2	2	395	1	0	0	0	0	0	0	0	1	5207	1432	50	5		5	EPHA4	2	222322667	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	11764811	222322667	20876706	67	75741											
SLC19A3	80704	broad.mit.edu	37	chr2	228552143	228552143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgacatgatgatattactCtcttcctctgggtgagacac	9	14	9	9	0	2	4	0	4	2	1	4	5	3	4	1	1	1	1	1	1	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:228552143C>A	ENST00000258403.3	-	6	1532	c.1461G>T	c.(1459-1461)gaG>gaT	p.E487D	SLC19A3_ENST00000541617.1_Missense_Mutation_p.E483D|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	487					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TGATATTACTCTCTTCCTCTG	0.408													27	62					1.32181e-22	1.8848e-22	1	0	A	228552143	C	A	228552143	3	1	395	1	0	0	0	0	1	0	0	0	14518	912	32	2	33	2	SLC19A3	2	228552143	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	6229476	228552143	14647230	68	75742											
C2orf57	165100	broad.mit.edu	37	chr2	232458813	232458813	+	Frame_Shift_Del	DEL	C	C	-																															ctacctgaccagccacctcaCcccacgccaggcccaggctg																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:232458813delC	ENST00000313965.2	+	1	1239	c.1151delC	c.(1150-1152)acfs	p.T384fs		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	384										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AGCCACCTCACCCCACGCCAG	0.652													11	56	---	---	---	---					-	232458813	C	-	232458813	7	5	395	1	0	1	0	1	0	0	0	0	2198	507	18	0	1153	0	C2orf57	2	232458813	Frame_Shift_Del	DEL	C	TCGA-DQ-7595-01A-11D-2229-08	3906670	232458813	10740560	69	75743											
ESPNL	339768	broad.mit.edu	37	chr2	239040215	239040215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgggcccctgcctcacGccgccgtcccctgcagcggc	2	6	12	21	5	1	0	1	0	0	0	3	0	2	0	7	2	4	2	7	2	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:239040215G>T	ENST00000343063.3	+	9	3123	c.2860G>T	c.(2860-2862)Gcc>Tcc	p.A954S	ESPNL_ENST00000409506.1_Missense_Mutation_p.A586S|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.A910S	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	954										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGCCTCACGCCGCCGTCCC	0.682													13	37					7.03913e-09	8.275e-09	1	0	T	239040215	G	T	239040215	3	4	395	1	0	0	0	0	1	0	0	0	5293	1087	38	3	2894	3	ESPNL	2	239040215	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	6581402	239040215	4159158	70	75744											
KLHL30	377007	broad.mit.edu	37	chr2	239056481	239056481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcaccccacaggcaccaCcctggacgtggtggaggtgg	7	5	13	16	1	1	0	1	0	0	0	1	2	1	2	5	6	0	1	5	6	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:239056481C>T	ENST00000409223.1	+	6	1264	c.1157C>T	c.(1156-1158)aCc>aTc	p.T386I	KLHL30_ENST00000305959.4_Missense_Mutation_p.T368I			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	386										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACAGGCACCACCCTGGACGTG	0.657													8	24					0	0	0	0	T	239056481	C	T	239056481	3	4	395	1	0	0	0	0	1	0	0	0	8436	507	18	4	1175	4	KLHL30	2	239056481	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	16266	239056481	4142892	71	75745											
NGLY1	55768	broad.mit.edu	37	chr3	25770736	25770736	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaacataacgatctttcAcaatattgtaacaaaggtgg	15	11	7	8	2	2	0	1	0	1	0	3	2	2	0	0	2	3	1	0	2	6	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:25770736A>C	ENST00000428257.1	-	10	1552	c.1445T>G	c.(1444-1446)gTg>gGg	p.V482G	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.V500G|NGLY1_ENST00000280700.5_Missense_Mutation_p.V500G|NGLY1_ENST00000417874.2_Missense_Mutation_p.V458G	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	500	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ACGATCTTTCACAATATTGTA	0.323													12	18					0	0	0	0	C	25770736	A	C	25770736	3	2	395	1	0	0	0	0	1	0	0	0	10468	159	6	5	477	5	NGLY1	3	25770736	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08		25770736	172251694	72	75746											
TRANK1	9881	broad.mit.edu	37	chr3	36876399	36876399	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataggcagcatctcttatCtaggatggagtaaattttac	14	13	8	6	0	2	0	0	0	2	0	3	2	2	2	0	3	2	3	0	3	7	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:36876399C>A	ENST00000429976.2	-	20	5633		c.e20-1		TRANK1_ENST00000428977.2_Splice_Site|TRANK1_ENST00000301807.6_Splice_Site			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1						DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATCTCTTATCTAGGATGGAG	0.348													9	13					3.09899e-07	3.47508e-07	1	0	A	36876399	C	A	36876399	5	1	395	1	0	0	0	0	0	0	1	0	16549	927	32	2	3408	2	TRANK1	3	36876399	Splice_Site	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	11105663	36876399	161146031	73	75747											
GRM2	2912	broad.mit.edu	37	chr3	51749278	51749278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccggccccctgcccGcctctcgctgcagtgagccc	3	6	10	22	3	2	1	1	1	1	0	3	1	2	1	7	1	4	2	7	1	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:51749278G>T	ENST00000395052.3	+	4	1723	c.1489G>T	c.(1489-1491)Gcc>Tcc	p.A497S	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	497					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCCCCTGCCCGCCTCTCGCTG	0.637													10	17					2.17888e-05	2.35747e-05	1	0	T	51749278	G	T	51749278	3	4	395	1	0	0	0	0	1	0	0	0	6847	1087	38	3	1499	3	GRM2	3	51749278	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	14872879	51749278	146273152	74	75748											
MAGI1	9223	broad.mit.edu	37	chr3	65361520	65361520	+	Frame_Shift_Del	DEL	T	T	-																															gtgatggaacatccatttacTgccaagatccggtctcctac																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:65361520delT	ENST00000330909.8	-	19	3179	c.3180delA	c.(3178-3180)gcfs	p.A1060fs	MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.A1061fs|MAGI1_ENST00000402939.2_Frame_Shift_Del_p.A1032fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1061	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATCCATTTACTGCCAAGATCC	0.498													33	78	---	---	---	---					-	65361520	T	-	65361520	7	5	395	1	0	1	0	1	0	0	0	0	9259	1567	55	0	1459	0	MAGI1	3	65361520	Frame_Shift_Del	DEL	T	TCGA-DQ-7595-01A-11D-2229-08	13612242	65361520	132660910	75	75749											
ZPLD1	131368	broad.mit.edu	37	chr3	102189341	102189341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtcccatcattactcGgagtggtaagtgtgctcctc	6	13	11	11	1	1	0	1	0	0	0	5	1	3	1	2	3	3	3	2	3	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:102189341G>T	ENST00000306176.1	+	9	1185	c.1085G>T	c.(1084-1086)cGg>cTg	p.R362L	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R346L|ZPLD1_ENST00000491959.1_Missense_Mutation_p.R346L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	346						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATCATTACTCGGAGTGGTAAG	0.522													6	42					0.0215528	0.021981	1	0	T	102189341	G	T	102189341	3	4	395	1	0	0	0	0	1	0	0	0	18314	1116	39	3	1119	3	ZPLD1	3	102189341	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	36827821	102189341	95833089	76	75750											
CD200	4345	broad.mit.edu	37	chr3	112064025	112064025	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagctgggactccaaaactCaaccatcaccttctggaata	13	8	6	14	0	3	0	2	0	1	0	4	2	4	2	4	2	3	1	4	2	5	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:112064025C>G	ENST00000315711.8	+	3	368	c.311C>G	c.(310-312)tCa>tGa	p.S104*	CD200_ENST00000473539.1_Nonsense_Mutation_p.S129*|CD200_ENST00000383681.3_Nonsense_Mutation_p.S30*	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	104	Ig-like V-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CTCCAAAACTCAACCATCACC	0.493													20	75					0	0	0	0	G	112064025	C	G	112064025	4	3	395	1	0	0	0	0	0	1	0	0	3009	838	29	2	400	2	CD200	3	112064025	Nonsense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	9874684	112064025	85958405	77	75751											
PARP14	54625	broad.mit.edu	37	chr3	122433171	122433171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaggtgcaagaatatcAttcatgtaattggtggaaat	13	15	10	3	0	2	2	2	1	0	1	2	3	2	3	0	3	1	2	0	3	5	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:122433171A>T	ENST00000474629.2	+	12	4161	c.3895A>T	c.(3895-3897)Att>Ttt	p.I1299F		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1299	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAAGAATATCATTCATGTAAT	0.383													12	32					0	0	0	0	T	122433171	A	T	122433171	3	4	395	1	0	0	0	0	1	0	0	0	11529	217	8	5	3941	5	PARP14	3	122433171	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	10369146	122433171	75589259	78	75752											
ADCY5	111	broad.mit.edu	37	chr3	123047504	123047504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccctgccttgccgcCagcctccatgtggttggcta	5	10	9	17	1	1	0	1	0	0	0	2	0	2	0	6	2	3	2	6	2	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:123047504C>A	ENST00000462833.1	-	6	3004	c.1792G>T	c.(1792-1794)Ggc>Tgc	p.G598C	ADCY5_ENST00000309879.5_Missense_Mutation_p.G248C|ADCY5_ENST00000491190.1_Missense_Mutation_p.G231C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	598					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCTTGCCGCCAGCCTCCATG	0.627											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	119					2.48696e-23	3.56824e-23	1	0	A	123047504	C	A	123047504	3	1	395	1	0	0	0	0	1	0	0	0	297	594	21	4	2057	4	ADCY5	3	123047504	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	614333	123047504	74974926	79	75753											
CCDC37	348807	broad.mit.edu	37	chr3	126151975	126151975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtccatcaccaaggaGgaggacacagcagctgagct	13	6	12	10	0	1	2	1	2	0	0	2	5	2	5	2	3	3	3	2	3	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:126151975G>C	ENST00000393425.1	+	14	1452	c.1353G>C	c.(1351-1353)gaG>gaC	p.E451D	CCDC37_ENST00000352312.1_Missense_Mutation_p.E450D|CCDC37_ENST00000505024.1_Missense_Mutation_p.E451D			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	450										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TCACCAAGGAGGAGGACACAG	0.587													35	125					0	0	0	0	C	126151975	G	C	126151975	3	2	395	1	0	0	0	0	1	0	0	0	2835	991	35	4	1400	4	CCDC37	3	126151975	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3104471	126151975	71870455	80	75754											
COL6A5	256076	broad.mit.edu	37	chr3	130188086	130188086	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaaagttatctttgtaaTatctgctggcgaaaccaact	15	12	6	8	1	2	0	0	0	2	0	2	1	2	0	1	1	4	3	1	1	7	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:130188086T>G	ENST00000265379.6	+	38	7732	c.7238T>G	c.(7237-7239)aTa>aGa	p.I2413R	COL6A5_ENST00000432398.2_Missense_Mutation_p.I2413R			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2413	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATCTTTGTAATATCTGCTGGC	0.413													26	36					0	0	0	0	G	130188086	T	G	130188086	3	3	395	1	0	0	0	0	1	0	0	0	3732	1406	49	5	7384	5	COL6A5	3	130188086	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	4036111	130188086	67834344	81	75755											
ASTE1	28990	broad.mit.edu	37	chr3	130744048	130744048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcaaagacggtggaaaaGagcataaccatcaatgacaa	20	4	10	7	1	1	3	1	1	0	2	1	5	1	4	1	2	3	2	1	2	7	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:130744048G>C	ENST00000264992.3	-	3	544	c.103C>G	c.(103-105)Ctt>Gtt	p.L35V	ASTE1_ENST00000514044.1_Missense_Mutation_p.L35V	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	35					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CGGTGGAAAAGAGCATAACCA	0.393													50	171					0	0	0	0	C	130744048	G	C	130744048	3	2	395	1	0	0	0	0	1	0	0	0	1066	942	33	2	1952	2	ASTE1	3	130744048	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	555962	130744048	67278382	82	75756											
NEK11	79858	broad.mit.edu	37	chr3	130799387	130799387	+	Silent	SNP	T	T	C																															attgtcaagttccatgcaagTtttgtggagcaagataattt																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:130799387T>C	ENST00000383366.4	+	4	584	c.291T>C	c.(289-291)agT>agC	p.S97S	NEK11_ENST00000507910.1_Silent_p.S97S|NEK11_ENST00000356918.4_Silent_p.S97S|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510688.1_Silent_p.S97S|NEK11_ENST00000508196.1_Silent_p.S97S|NEK11_ENST00000429253.2_Silent_p.S97S|NEK11_ENST00000510769.1_Silent_p.S97S|NEK11_ENST00000511262.1_Silent_p.S97S	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	97	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCCATGCAAGTTTTGTGGAGC	0.423													8	26					0	0	0	0	C	130799387	T	C	130799387	2	2	395	1	0	0	0	0	0	0	0	1	10393	1722	60	5		5	NEK11	3	130799387	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	55339	130799387	67223043	83	75757	1018	2									
NEK11	79858	broad.mit.edu	37	chr3	130799395	130799395	+	Missense_Mutation	SNP	A	A	C																															gttccatgcaagttttgtggAgcaagataatttctgcatta																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:130799395A>C	ENST00000383366.4	+	4	592	c.299A>C	c.(298-300)gAg>gCg	p.E100A	NEK11_ENST00000507910.1_Missense_Mutation_p.E100A|NEK11_ENST00000356918.4_Missense_Mutation_p.E100A|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510688.1_Missense_Mutation_p.E100A|NEK11_ENST00000508196.1_Missense_Mutation_p.E100A|NEK11_ENST00000429253.2_Missense_Mutation_p.E100A|NEK11_ENST00000510769.1_Missense_Mutation_p.E100A|NEK11_ENST00000511262.1_Missense_Mutation_p.E100A	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	100	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGTTTTGTGGAGCAAGATAAT	0.423													8	24					0	0	0	0	C	130799395	A	C	130799395	3	2	395	1	0	0	0	0	1	0	0	0	10393	304	11	5	305	5	NEK11	3	130799395	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	8	130799395	67223035	84	75758	1018	2									
NUDT16	131870	broad.mit.edu	37	chr3	131100965	131100965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacagaagcctagaggacGggctgaaccgcgagctgcgc	11	3	16	11	4	0	3	0	1	0	2	0	6	0	5	2	3	4	2	2	3	3	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:131100965G>T	ENST00000359850.3	+	2	254	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	NUDT16_ENST00000502852.1_Missense_Mutation_p.G72W|NUDT16_ENST00000537561.1_Missense_Mutation_p.G26W|NUDT16_ENST00000521288.1_Missense_Mutation_p.G72W	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	72	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						CCTAGAGGACGGGCTGAACCG	0.687													33	85					7.11191e-15	9.28164e-15	1	0	T	131100965	G	T	131100965	3	4	395	1	0	0	0	0	1	0	0	0	10803	1116	39	3	220	3	NUDT16	3	131100965	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	301570	131100965	66921465	85	75759											
KY	339855	broad.mit.edu	37	chr3	134338072	134338072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgggtttgaaggcttGgcggtccttctcctgagcag	5	12	15	9	1	2	2	1	2	1	0	4	2	3	2	2	4	1	3	2	4	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:134338072G>T	ENST00000508956.1	-	7	622	c.565C>A	c.(565-567)Caa>Aaa	p.Q189K	KY_ENST00000503669.1_Missense_Mutation_p.Q210K|KY_ENST00000423778.2_Missense_Mutation_p.Q210K|KY_ENST00000508041.1_5'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	210						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGAAGGCTTGGCGGTCCTTC	0.557													37	87					6.97489e-18	9.56201e-18	1	0	T	134338072	G	T	134338072	3	4	395	1	0	0	0	0	1	0	0	0	8639	1357	47	4	1373	4	KY	3	134338072	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3237107	134338072	63684358	86	75760											
GK5	256356	broad.mit.edu	37	chr3	141906560	141906560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttaccttttgtgagcttaTataacaaccaggtatcaata	13	15	5	8	0	1	1	1	1	0	0	1	1	1	1	2	1	4	2	2	1	8	9			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:141906560T>C	ENST00000392993.2	-	6	756	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	GK5_ENST00000544571.1_Missense_Mutation_p.Y202C	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	202					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TGTGAGCTTATATAACAACCA	0.328													18	47					0	0	0	0	C	141906560	T	C	141906560	3	2	395	1	0	0	0	0	1	0	0	0	6473	1406	49	5	1028	5	GK5	3	141906560	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	7568488	141906560	56115870	87	75761											
ATR	545	broad.mit.edu	37	chr3	142188216	142188216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatccacattgcttgttgaGgataggctagaaatactttg	11	14	9	7	0	1	2	1	1	0	1	2	3	2	3	1	2	2	3	1	2	4	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:142188216G>A	ENST00000350721.4	-	38	6636	c.6515C>T	c.(6514-6516)cCt>cTt	p.P2172L	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.P2108L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2172	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			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						TGCTTGTTGAGGATAGGCTAG	0.328								Other conserved DNA damage response genes					15	90					0	0	0	0	A	142188216	G	A	142188216	3	1	395	1	0	0	0	0	1	0	0	0	1208	1000	35	4	1459	4	ATR	3	142188216	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	281656	142188216	55834214	88	75762											
TIPARP	25976	broad.mit.edu	37	chr3	156422631	156422631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctacaatgtttggacaagGcagttattttgcaaagaagg	13	12	11	5	0	0	1	0	0	0	1	0	2	0	2	0	3	3	5	0	3	6	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:156422631G>T	ENST00000461166.1	+	6	2273	c.1685G>T	c.(1684-1686)gGc>gTc	p.G562V	TIPARP_ENST00000542783.1_Missense_Mutation_p.G562V|TIPARP_ENST00000486483.1_Missense_Mutation_p.G562V|TIPARP_ENST00000295924.7_Missense_Mutation_p.G562V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	562	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTGGACAAGGCAGTTATTTT	0.438													45	219					1.48734e-19	2.06973e-19	1	0	T	156422631	G	T	156422631	3	4	395	1	0	0	0	0	1	0	0	0	16018	1203	42	4	1703	4	TIPARP	3	156422631	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	14234415	156422631	41599799	89	75763											
SLITRK3	22865	broad.mit.edu	37	chr3	164906145	164906145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactatggtgttaagctggGagctggacactgctagggcc	8	10	14	9	0	1	0	1	0	0	0	1	2	1	2	1	4	3	4	1	4	3	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:164906145G>T	ENST00000475390.1	-	2	2917	c.2474C>A	c.(2473-2475)tCc>tAc	p.S825Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S825Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	825						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTTAAGCTGGGAGCTGGACAC	0.542										HNSCC(40;0.11)			42	130					3.78316e-11	4.59952e-11	1	0	T	164906145	G	T	164906145	3	4	395	1	0	0	0	0	1	0	0	0	14832	1174	41	2	463	2	SLITRK3	3	164906145	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	8483514	164906145	33116285	90	75764											
SAMD7	344658	broad.mit.edu	37	chr3	169644505	169644505	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgccggtgacctgcattTtcacagaagcaccctcagaa	10	8	8	15	1	2	3	2	1	0	2	2	3	2	3	4	1	3	2	4	1	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:169644505T>A	ENST00000428432.2	+	6	844	c.455T>A	c.(454-456)tTt>tAt	p.F152Y	SAMD7_ENST00000335556.3_Missense_Mutation_p.F152Y	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	152										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACCTGCATTTTCACAGAAGC	0.597													55	76					0	0	0	0	A	169644505	T	A	169644505	3	1	395	1	0	0	0	0	1	0	0	0	13909	1841	64	5	469	5	SAMD7	3	169644505	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	4738360	169644505	28377925	91	75765											
CCDC39	339829	broad.mit.edu	37	chr3	180372582	180372582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaattctactagtttcatGgtcctgatatgccgttctac	8	16	7	10	1	3	2	1	2	2	0	4	2	4	2	2	1	3	2	2	1	5	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:180372582G>T	ENST00000273654.4	-	13	1769	c.1150C>A	c.(1150-1152)Cat>Aat	p.H384N	CCDC39_ENST00000442201.2_Missense_Mutation_p.H300N			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	300					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTAGTTTCATGGTCCTGATAT	0.348													12	24					0.0167234	0.0170934	1	0	T	180372582	G	T	180372582	3	4	395	1	0	0	0	0	1	0	0	0	2837	1348	47	4	1983	4	CCDC39	3	180372582	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	10728077	180372582	17649848	92	75766											
CHRD	8646	broad.mit.edu	37	chr3	184105203	184105203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctggcgggcagcgggtAcgcggtggcaccccgttgtg	4	6	20	11	5	0	0	0	0	0	0	0	1	0	1	2	6	3	5	2	6	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:184105203A>G	ENST00000204604.1	+	19	2635	c.2389A>G	c.(2389-2391)Acg>Gcg	p.T797A	CHRD_ENST00000450923.1_Missense_Mutation_p.T797A|CHRD_ENST00000348986.3_Missense_Mutation_p.T757A|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.T339A	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	797	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGCGGGTACGCGGTGGCA	0.597													28	26					0	0	0	0	G	184105203	A	G	184105203	3	3	395	1	0	0	0	0	1	0	0	0	3401	391	14	5	2463	5	CHRD	3	184105203	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	3732621	184105203	13917227	93	75767											
IL1RAP	3556	broad.mit.edu	37	chr3	190326946	190326946	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatattttccttccagtgtCaaaccgactatcacttggta	10	14	7	10	1	2	0	2	0	0	0	4	2	4	1	3	2	1	1	3	2	4	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:190326946C>G	ENST00000412504.2	+	4	765	c.513C>G	c.(511-513)gtC>gtG	p.V171V	IL1RAP_ENST00000439062.1_Silent_p.V171V|IL1RAP_ENST00000317757.3_Silent_p.V171V|IL1RAP_ENST00000434491.1_Silent_p.V30V|IL1RAP_ENST00000422940.1_Silent_p.V171V|IL1RAP_ENST00000447382.1_Silent_p.V171V|IL1RAP_ENST00000072516.3_Silent_p.V171V|IL1RAP_ENST00000422485.1_Silent_p.V171V|IL1RAP_ENST00000443369.2_Silent_p.V171V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	171	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CTTCCAGTGTCAAACCGACTA	0.338													4	85					0	0	0	0	G	190326946	C	G	190326946	2	3	395	1	0	0	0	0	0	0	0	1	7713	813	29	2		2	IL1RAP	3	190326946	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	6221743	190326946	7695484	94	75768											
SH3TC1	54436	broad.mit.edu	37	chr4	8239283	8239283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcgagctggcagagcaCttctacctcaaggccctgtc	8	8	11	14	1	2	1	1	0	1	1	3	2	2	1	2	3	3	3	2	3	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:8239283C>G	ENST00000539824.1	+	17	3785	c.3411C>G	c.(3409-3411)caC>caG	p.H1137Q	SH3TC1_ENST00000245105.3_Missense_Mutation_p.H1213Q			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1213							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGGCAGAGCACTTCTACCTCA	0.642													11	18					0	0	0	0	G	8239283	C	G	8239283	3	3	395	1	0	0	0	0	1	0	0	0	14349	564	20	4	3701	4	SH3TC1	4	8239283	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		8239283	182914993	95	75769											
KIT	3815	broad.mit.edu	37	chr4	55604672	55604672	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcggatcaattctgtCggcagcaccgcttcctcctc	5	12	9	15	3	3	0	1	0	2	0	7	1	5	1	3	2	2	3	3	2	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:55604672C>A	ENST00000288135.5	+	21	2977	c.2880C>A	c.(2878-2880)gtC>gtA	p.V960V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	960					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAATTCTGTCGGCAGCACCG	0.527		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				31	87					1.39806e-14	1.81433e-14	1	0	A	55604672	C	A	55604672	2	1	395	1	0	0	0	0	0	0	0	1	8381	871	31	3		3	KIT	4	55604672	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	47365389	55604672	135549604	96	75770											
EXOC1	55763	broad.mit.edu	37	chr4	56734585	56734585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaagagttaaatgcaagaGaagaacaggatatcgaaata	21	6	9	5	1	0	3	0	0	0	3	1	6	0	4	1	1	2	2	1	1	9	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:56734585G>A	ENST00000381295.2	+	5	847	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	EXOC1_ENST00000346134.7_Missense_Mutation_p.E167K|EXOC1_ENST00000349598.6_Missense_Mutation_p.E167K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	167					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAATGCAAGAGAAGAACAGGA	0.398													14	30					0	0	0	0	A	56734585	G	A	56734585	3	1	395	1	0	0	0	0	1	0	0	0	5338	943	33	2	513	2	EXOC1	4	56734585	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1129913	56734585	134419691	97	75771											
LPHN3	23284	broad.mit.edu	37	chr4	62849144	62849144	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttacatttcttcttctTggctgccttcacctggatgt	4	18	7	12	0	4	0	1	0	3	0	4	1	4	1	3	2	2	2	3	2	1	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:62849144T>C	ENST00000512091.1	+	18	3602	c.2855T>C	c.(2854-2856)tTg>tCg	p.L952S	LPHN3_ENST00000508693.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000507625.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000507164.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000545650.1_Missense_Mutation_p.L952S|LPHN3_ENST00000514157.1_Missense_Mutation_p.L952S|LPHN3_ENST00000506720.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000506700.1_Missense_Mutation_p.L952S|LPHN3_ENST00000511324.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000514591.1_Missense_Mutation_p.L952S|LPHN3_ENST00000508946.1_Missense_Mutation_p.L952S|LPHN3_ENST00000514996.1_Missense_Mutation_p.L952S|LPHN3_ENST00000509896.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000504896.1_Missense_Mutation_p.L952S|LPHN3_ENST00000506746.1_Missense_Mutation_p.L1020S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	939					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						TTCTTCTTCTTGGCTGCCTTC	0.433													19	57					0	0	0	0	C	62849144	T	C	62849144	3	2	395	1	0	0	0	0	1	0	0	0	8981	1821	63	5	2917	5	LPHN3	4	62849144	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	6114559	62849144	128305132	98	75772											
ENAM	10117	broad.mit.edu	37	chr4	71500050	71500050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacctggggcccttctttgGaaacggtctccctcagcaat	8	10	9	14	1	3	0	1	0	2	0	4	1	3	1	3	4	2	1	3	4	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:71500050G>A	ENST00000396073.3	+	6	517	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	79					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCTTCTTTGGAAACGGTCTC	0.507													64	135					0	0	0	0	A	71500050	G	A	71500050	3	1	395	1	0	0	0	0	1	0	0	0	5150	1174	41	2	254	2	ENAM	4	71500050	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	8650906	71500050	119654226	99	75773											
SEC31A	22872	broad.mit.edu	37	chr4	83776146	83776146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcacaagactcaacaaTctctttccagttcttcatca	14	12	3	12	0	6	2	4	0	2	2	8	2	7	2	1	0	1	1	1	0	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:83776146T>C	ENST00000432794.1	-	17	2081	c.1918A>G	c.(1918-1920)Att>Gtt	p.I640V	SEC31A_ENST00000508479.1_Missense_Mutation_p.I640V|SEC31A_ENST00000509142.1_Missense_Mutation_p.I640V|SEC31A_ENST00000508502.1_Missense_Mutation_p.I640V|SEC31A_ENST00000505984.1_Missense_Mutation_p.I601V|SEC31A_ENST00000505472.1_Missense_Mutation_p.I640V|SEC31A_ENST00000500777.2_Missense_Mutation_p.I601V|SEC31A_ENST00000448323.1_Missense_Mutation_p.I640V|SEC31A_ENST00000443462.2_Missense_Mutation_p.I635V|SEC31A_ENST00000395310.2_Missense_Mutation_p.I640V|SEC31A_ENST00000355196.2_Missense_Mutation_p.I640V|SEC31A_ENST00000326950.5_Missense_Mutation_p.I601V|SEC31A_ENST00000311785.7_Missense_Mutation_p.I640V|SEC31A_ENST00000348405.4_Missense_Mutation_p.I601V|SEC31A_ENST00000264405.5_Missense_Mutation_p.I373V|SEC31A_ENST00000513858.1_Missense_Mutation_p.I601V			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	640					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GACTCAACAATCTCTTTCCAG	0.363													12	29					0	0	0	0	C	83776146	T	C	83776146	3	2	395	1	0	0	0	0	1	0	0	0	14085	1435	50	5	1788	5	SEC31A	4	83776146	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	12276096	83776146	107378130	100	75774											
NAP1L5	266812	broad.mit.edu	37	chr4	89618395	89618395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggcatctcggcgtgggcatCgtcatgtttggcccccgcgg	4	9	15	13	5	2	0	1	0	1	0	4	0	2	0	2	5	0	3	2	5	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:89618395C>G	ENST00000323061.5	-	1	991	c.511G>C	c.(511-513)Gat>Cat	p.D171H	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	171					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		GCGTGGGCATCGTCATGTTTG	0.587													50	167					0	0	0	0	G	89618395	C	G	89618395	3	3	395	1	0	0	0	0	1	0	0	0	10230	884	31	3	41	3	NAP1L5	4	89618395	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	5842249	89618395	101535881	101	75775											
UNC5C	8633	broad.mit.edu	37	chr4	96469888	96469888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcggacccccttaccttGggcggcggagccagtgccgc	4	7	15	15	4	0	0	0	0	0	0	0	2	0	2	5	5	3	0	5	5	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:96469888G>C	ENST00000453304.1	-	1	469	c.121C>G	c.(121-123)Caa>Gaa	p.Q41E	UNC5C_ENST00000504962.1_Missense_Mutation_p.Q41E|UNC5C_ENST00000506749.1_Missense_Mutation_p.Q41E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	41					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCCTTACCTTGGGCGGCGGAG	0.642													13	35					0	0	0	0	C	96469888	G	C	96469888	3	2	395	1	0	0	0	0	1	0	0	0	17089	1357	47	4	2738	4	UNC5C	4	96469888	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	6851493	96469888	94684388	102	75776											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99342515	99342515	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtcaaacagactgctGtctgcccttatacgacacag	11	8	11	11	1	2	1	1	0	1	1	2	3	2	2	1	2	4	1	1	2	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:99342515G>C	ENST00000408927.3	+	12	1523	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	RAP1GDS1_ENST00000453712.2_Silent_p.L470L|RAP1GDS1_ENST00000339360.5_Silent_p.L471L|RAP1GDS1_ENST00000380158.4_Silent_p.L422L|RAP1GDS1_ENST00000264572.7_Silent_p.L379L|RAP1GDS1_ENST00000408900.3_Silent_p.L421L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	470							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		ACAGACTGCTGTCTGCCCTTA	0.428			T	NUP98	T-ALL								11	33					0	0	0	0	C	99342515	G	C	99342515	2	2	395	1	0	0	0	0	0	0	0	1	13121	1364	48	4		4	RAP1GDS1	4	99342515	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2872627	99342515	91811761	103	75777											
ARHGEF38	54848	broad.mit.edu	37	chr4	106473961	106473961	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggaaagaaaacatggtCaccaagaaaaagaatctggc	19	5	10	7	0	2	3	1	0	1	3	2	4	2	4	1	3	1	0	1	3	7	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:106473961C>A	ENST00000420470.2	+	1	183	c.39C>A	c.(37-39)gtC>gtA	p.V13V	ARHGEF38_ENST00000265154.2_Silent_p.V13V	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	13					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AAAACATGGTCACCAAGAAAA	0.488													15	47					3.52763e-06	3.862e-06	1	0	A	106473961	C	A	106473961	2	1	395	1	0	0	0	0	0	0	0	1	909	813	29	2		2	ARHGEF38	4	106473961	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	7131446	106473961	84680315	104	75778											
INTS12	57117	broad.mit.edu	37	chr4	106604042	106604042	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgctggtagtacttccacTaggtcctgatgttccactat	7	16	8	10	0	0	1	0	1	0	0	3	1	3	1	3	2	2	4	3	2	4	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:106604042T>G	ENST00000451321.2	-	7	1716	c.1237A>C	c.(1237-1239)Agt>Cgt	p.S413R	INTS12_ENST00000394735.1_Missense_Mutation_p.S413R|INTS12_ENST00000340139.5_Missense_Mutation_p.S413R	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	413	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTACTTCCACTAGGTCCTGAT	0.453													46	119					0	0	0	0	G	106604042	T	G	106604042	3	3	395	1	0	0	0	0	1	0	0	0	7830	1522	53	5	155	5	INTS12	4	106604042	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	130081	106604042	84550234	105	75779											
CYP2U1	113612	broad.mit.edu	37	chr4	108868684	108868684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattcctcatatgacctcaGagaacacaggcaagtccagg	13	7	8	13	0	2	2	2	1	0	1	4	3	4	2	4	2	1	1	4	2	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:108868684G>A	ENST00000332884.6	+	3	1554	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	CYP2U1_ENST00000508453.1_Missense_Mutation_p.E218K|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	427					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TATGACCTCAGAGAACACAGG	0.552													15	36					0	0	0	0	A	108868684	G	A	108868684	3	1	395	1	0	0	0	0	1	0	0	0	4207	943	33	2	1289	2	CYP2U1	4	108868684	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2264642	108868684	82285592	106	75780											
PRDM5	11107	broad.mit.edu	37	chr4	121719573	121719573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctcgcaattatagggtCgtttttctattaaaaaaatg	15	15	6	5	2	2	0	0	0	2	0	4	0	2	0	0	1	0	2	0	1	9	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:121719573C>A	ENST00000264808.3	-	10	1277	c.1037G>T	c.(1036-1038)cGa>cTa	p.R346L	PRDM5_ENST00000428209.2_Missense_Mutation_p.R315L|PRDM5_ENST00000515109.1_Missense_Mutation_p.R315L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	346					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTATAGGGTCGTTTTTCTAT	0.333													10	42					0.00136819	0.00142366	1	0	A	121719573	C	A	121719573	3	1	395	1	0	0	0	0	1	0	0	0	12540	884	31	3	883	3	PRDM5	4	121719573	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	12850889	121719573	69434703	107	75781											
TRPC3	7222	broad.mit.edu	37	chr4	122828484	122828484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcagcattaactttagcCccaaggtagtaagaataaag	18	8	8	7	0	0	1	0	0	0	1	0	1	0	1	2	1	4	4	2	1	9	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:122828484C>T	ENST00000264811.5	-	6	2230	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	TRPC3_ENST00000513531.1_Silent_p.G549G|TRPC3_ENST00000379645.3_Silent_p.G677G	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	592					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TAACTTTAGCCCCAAGGTAGT	0.328													39	115					0	0	0	0	T	122828484	C	T	122828484	2	4	395	1	0	0	0	0	0	0	0	1	16674	610	22	4		4	TRPC3	4	122828484	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1108911	122828484	68325792	108	75782											
PCDH10	57575	broad.mit.edu	37	chr4	134072303	134072303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggacctgggccccaaCgccgtgcctgcgcactgcaa	8	4	12	17	3	0	0	0	0	0	0	0	1	0	1	6	2	4	2	6	2	3	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:134072303C>A	ENST00000264360.4	+	1	1834	c.1008C>A	c.(1006-1008)aaC>aaA	p.N336K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	336	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGGCCCCAACGCCGTGCCTG	0.597													37	113					2.05212e-20	2.8817e-20	1	0	A	134072303	C	A	134072303	3	1	395	1	0	0	0	0	1	0	0	0	11578	535	19	3	1010	3	PCDH10	4	134072303	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	11243819	134072303	57081973	109	75783											
DCHS2	54798	broad.mit.edu	37	chr4	155156292	155156293	+	Frame_Shift_Ins	INS	-	-	C																															acaggtggtgctgcagccttINSccccttgatctccttcccca																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:155156292_155156293insC	ENST00000357232.3	-	25	8145_8146	c.8146_8147insG	c.(8146-8148)aggfs	p.R2716fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGCAGCCTTCCCCTTGATCT	0.51													21	60	---	---	---	---					C	155156293	-	C	155156292	7	5	395	1	0	1	1	0	0	0	0	0	4320	1783	62	0	607	0	DCHS2	4	155156292	Frame_Shift_Ins	INS	-	TCGA-DQ-7595-01A-11D-2229-08	21083989	155156292	35997984	110	75784											
DCHS2	54798	broad.mit.edu	37	chr4	155249306	155249306	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatcctttgcaaacacAgttgtaaccaacatatttac	14	12	5	10	0	1	0	1	0	0	0	2	1	2	1	2	1	5	3	2	1	5	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:155249306A>G	ENST00000357232.3	-	12	2591	c.2592T>C	c.(2590-2592)acT>acC	p.T864T	DCHS2_ENST00000339452.1_Silent_p.T1319T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	864	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGCAAACACAGTTGTAACCA	0.353													21	64					0	0	0	0	G	155249306	A	G	155249306	2	3	395	1	0	0	0	0	0	0	0	1	4320	175	7	5		5	DCHS2	4	155249306	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	93014	155249306	35904970	111	75785											
FSTL5	56884	broad.mit.edu	37	chr4	162307065	162307065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctgtttttccggttcCaaggccattcttctgccttg	3	18	8	12	1	2	0	0	0	2	0	4	0	4	0	5	2	2	2	5	2	1	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:162307065C>A	ENST00000306100.5	-	16	2814	c.2378G>T	c.(2377-2379)tGg>tTg	p.W793L	FSTL5_ENST00000536695.1_Missense_Mutation_p.W792L|FSTL5_ENST00000379164.4_Missense_Mutation_p.W792L|FSTL5_ENST00000427802.2_Missense_Mutation_p.W783L|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	793						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTTCCGGTTCCAAGGCCATTC	0.468													39	127					6.48837e-15	8.54024e-15	1	0	A	162307065	C	A	162307065	3	1	395	1	0	0	0	0	1	0	0	0	6128	595	21	4	169	4	FSTL5	4	162307065	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	7057759	162307065	28847211	112	75786											
FAT1	2195	broad.mit.edu	37	chr4	187540161	187540161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttacaatatggtaagtaaCgtgaccataaataccagaat	18	11	6	6	1	0	2	0	1	0	1	0	2	0	2	2	1	3	2	2	1	9	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:187540161C>T	ENST00000441802.2	-	10	7788	c.7579G>A	c.(7579-7581)Gtt>Att	p.V2527I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2527	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.V2530F(1)|p.V2527F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTAAGTAACGTGACCATAA	0.408										HNSCC(5;0.00058)			59	122					0	0	0	0	T	187540161	C	T	187540161	3	4	395	1	0	0	0	0	1	0	0	0	5734	536	19	1	6259	1	FAT1	4	187540161	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	25233096	187540161	3614115	113	75787											
FRG1	2483	broad.mit.edu	37	chr4	190882995	190882995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaagaaatttcagagcttCcaagaccacaaacttaaaat	20	8	5	8	0	1	4	1	0	0	4	2	4	2	4	2	0	2	1	2	0	6	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:190882995C>A	ENST00000226798.4	+	8	870	c.648C>A	c.(646-648)ttC>ttA	p.F216L		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	216					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTCAGAGCTTCCAAGACCACA	0.294													50	151					6.18754e-15	8.16756e-15	1	0	A	190882995	C	A	190882995	3	1	395	1	0	0	0	0	1	0	0	0	6094	854	30	2	678	2	FRG1	4	190882995	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3342834	190882995	271281	114	75788											
SEMA5A	9037	broad.mit.edu	37	chr5	9052111	9052111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgccagaggcttcacactCagaccagtccgaccactccg	10	5	9	17	3	2	2	2	0	0	2	4	4	4	2	5	1	0	1	5	1	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:9052111C>G	ENST00000382496.5	-	20	3384	c.2719G>C	c.(2719-2721)Gag>Cag	p.E907Q		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	907	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTTCACACTCAGACCAGTCC	0.622													3	16					0	0	0	0	G	9052111	C	G	9052111	3	3	395	1	0	0	0	0	1	0	0	0	14124	835	29	2	521	2	SEMA5A	5	9052111	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		9052111	171863149	115	75789											
TRIO	7204	broad.mit.edu	37	chr5	14508202	14508202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacgtacttcttagtggcGtgtcccccttcctggatgac	6	13	9	13	2	1	1	0	1	1	0	3	2	3	2	3	2	2	1	3	2	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:14508202G>A	ENST00000344204.4	+	57	8989	c.8965G>A	c.(8965-8967)Gtg>Atg	p.V2989M	TRIO_ENST00000537187.1_Missense_Mutation_p.V2813M|TRIO_ENST00000344135.5_Missense_Mutation_p.V488M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2989	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTTAGTGGCGTGTCCCCCTT	0.522													23	90					0	0	0	0	A	14508202	G	A	14508202	3	1	395	1	0	0	0	0	1	0	0	0	16647	1145	40	1	9191	1	TRIO	5	14508202	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	5456091	14508202	166407058	116	75790											
FAM105A	54491	broad.mit.edu	37	chr5	14602300	14602300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattttattaggcttatgaGgagctattttggcggcatca	9	17	10	5	1	1	1	1	1	0	0	1	2	1	2	0	4	1	3	0	4	5	8			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:14602300G>A	ENST00000274217.3	+	5	477	c.357G>A	c.(355-357)gaG>gaA	p.E119E		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	119										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AGGCTTATGAGGAGCTATTTT	0.363													8	10					0	0	0	0	A	14602300	G	A	14602300	2	1	395	1	0	0	0	0	0	0	0	1	5428	991	35	4		4	FAM105A	5	14602300	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	94098	14602300	166312960	117	75791											
CDH18	1016	broad.mit.edu	37	chr5	19473641	19473641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcacttcaggtctgatatcCctccggtacttgagctcctc	6	14	7	14	1	3	2	2	2	1	0	7	2	6	2	3	2	2	2	3	2	2	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:19473641C>T	ENST00000507958.1	-	15	3057	c.2067G>A	c.(2065-2067)agG>agA	p.R689R	CDH18_ENST00000382275.1_Silent_p.R689R|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Silent_p.R689R			Q13634	CAD18_HUMAN	cadherin 18, type 2	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCTGATATCCCTCCGGTACT	0.493													36	82					0	0	0	0	T	19473641	C	T	19473641	2	4	395	1	0	0	0	0	0	0	0	1	3132	622	22	4		4	CDH18	5	19473641	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	4871341	19473641	161441619	118	75792											
CDH10	1008	broad.mit.edu	37	chr5	24505236	24505236	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactgatttcagcagcaaTaacagtaagattatgccact	14	12	6	9	0	1	2	1	1	0	1	1	2	1	2	1	0	5	3	1	0	5	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:24505236T>C	ENST00000264463.4	-	8	1885	c.1378A>G	c.(1378-1380)Att>Gtt	p.I460V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	460	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCAGCAGCAATAACAGTAAGA	0.289										HNSCC(23;0.051)			26	37					0	0	0	0	C	24505236	T	C	24505236	3	2	395	1	0	0	0	0	1	0	0	0	3125	1406	49	5	1008	5	CDH10	5	24505236	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	5031595	24505236	156410024	119	75793											
SERINC5	256987	broad.mit.edu	37	chr5	79462247	79462247	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagagctgagaaggtgaggTaggtgacatagcagcttatg	13	8	15	5	0	0	4	0	3	0	2	0	5	0	4	0	3	3	4	0	3	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:79462247T>G	ENST00000507668.2	-	7	968	c.818A>C	c.(817-819)tAc>tCc	p.Y273S	SERINC5_ENST00000512972.2_Missense_Mutation_p.Y273S|SERINC5_ENST00000512721.1_Missense_Mutation_p.Y273S|SERINC5_ENST00000509193.1_Missense_Mutation_p.Y273S	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	273					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GAAGGTGAGGTAGGTGACATA	0.463													3	6					0	0	0	0	G	79462247	T	G	79462247	3	3	395	1	0	0	0	0	1	0	0	0	14170	1638	57	5	629	5	SERINC5	5	79462247	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	54957011	79462247	101453013	120	75794											
GPR98	84059	broad.mit.edu	37	chr5	90051002	90051002	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagtttccattttgccGgtaagtcaaggctgcaaaga	11	10	11	9	2	1	1	1	0	0	1	2	2	2	1	3	2	2	4	3	2	4	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:90051002G>T	ENST00000405460.2	+	55	11676	c.11580_splice	c.e55+1	p.P3860_splice		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3860	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATTTTGCCGGTAAGTCAAG	0.289													5	14					0.014758	0.0151179	1	0	T	90051002	G	T	90051002	5	4	395	1	0	0	0	0	0	0	1	0	6771	1130	39	3	11798	3	GPR98	5	90051002	Splice_Site	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	10588755	90051002	90864258	121	75795											
EPB41L4A	64097	broad.mit.edu	37	chr5	111519828	111519828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccatatcattctcctgccGtattctgaaaggaaagccat	13	11	6	11	1	3	1	1	1	2	0	4	2	3	2	4	1	3	1	4	1	5	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:111519828G>A	ENST00000261486.5	-	18	1783	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	503						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			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)		TTCTCCTGCCGTATTCTGAAA	0.433													28	43					0	0	0	0	A	111519828	G	A	111519828	3	1	395	1	0	0	0	0	1	0	0	0	5193	1144	40	1	577	1	EPB41L4A	5	111519828	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	21468826	111519828	69395432	122	75796											
FAM53C	51307	broad.mit.edu	37	chr5	137680781	137680781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctggcagccggtgtggcGgcccgccccctccaagctgt	3	7	14	17	4	0	0	0	0	0	0	2	0	1	0	5	4	2	3	5	4	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:137680781G>T	ENST00000239906.5	+	4	832	c.404G>T	c.(403-405)cGg>cTg	p.R135L	FAM53C_ENST00000434981.2_Missense_Mutation_p.R135L|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCGGTGTGGCGGCCCGCCCCC	0.687													44	83					1.7489e-18	2.40474e-18	1	0	T	137680781	G	T	137680781	3	4	395	1	0	0	0	0	1	0	0	0	5628	1116	39	3	414	3	FAM53C	5	137680781	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	26160953	137680781	43234479	123	75797											
PCDHA6	56142	broad.mit.edu	37	chr5	140209111	140209111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacatcttcacggtgtctGcgcgagacgcggacgcgcag	7	6	14	14	7	3	1	1	0	2	1	3	3	3	2	1	2	1	1	1	2	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:140209111G>T	ENST00000529310.1	+	1	1549	c.1435G>T	c.(1435-1437)Gcg>Tcg	p.A479S	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A479S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTCTGCGCGAGACGC	0.652													47	70					3.86236e-30	5.70099e-30	1	0	T	140209111	G	T	140209111	3	4	395	1	0	0	0	0	1	0	0	0	11599	1319	46	4	1437	4	PCDHA6	5	140209111	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2528330	140209111	40706149	124	75798											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308211	140308212	+	Frame_Shift_Ins	INS	-	-	T																															gctctgccaggactggacacINSttggtcacaaaagtggtagc																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:140308211_140308212insT	ENST00000253807.2	+	1	1734_1735	c.1734_1735insT	c.(1732-1737)catggtfs	p.G579fs	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Frame_Shift_Ins_p.G579fs	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTGGACACTTGGTCACAAA	0.49													41	71	---	---	---	---					T	140308212	-	T	140308211	7	5	395	1	0	1	1	0	0	0	0	0	11603	564	20	0	1736	0	PCDHAC1	5	140308211	Frame_Shift_Ins	INS	-	TCGA-DQ-7595-01A-11D-2229-08	99100	140308211	40607049	125	75799											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755535	140755536	+	Frame_Shift_Del	DEL	GC	GC	-																															acacgggcgaggtgcgcacgGcgcgcgccctgctggacaga																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:140755535_140755536delGC	ENST00000517434.1	+	1	1885_1886	c.1885_1886delGC	c.(1885-1887)gfs	p.A629fs	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCACGGCGCGCGCCCTG	0.688													39	76	---	---	---	---					-	140755536	GC	-	140755535	7	5	395	1	0	1	0	1	0	0	0	0	11629	1203	42	0	1887	0	PCDHGA6	5	140755535	Frame_Shift_Del	DEL	GC	TCGA-DQ-7595-01A-11D-2229-08	447324	140755535	40159725	126	75800											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772655	140772655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgcgggcaggatagatcGggaggagctctgcgctcaga	9	5	16	11	4	2	2	1	0	1	2	3	5	2	5	1	4	2	3	1	4	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:140772655G>T	ENST00000398604.2	+	1	275	c.275G>T	c.(274-276)cGg>cTg	p.R92L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAGATCGGGAGGAGCTC	0.532													23	43					1.22574e-08	1.43003e-08	1	0	T	140772655	G	T	140772655	3	4	395	1	0	0	0	0	1	0	0	0	11631	1116	39	3	277	3	PCDHGA8	5	140772655	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	17120	140772655	40142605	127	75801											
ATP10B	23120	broad.mit.edu	37	chr5	160061553	160061553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaaggtcattgctcaagaAgaacacttgcccgagcttca	12	9	9	11	1	4	2	4	0	0	2	4	3	4	2	1	1	4	2	1	1	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:160061553A>G	ENST00000327245.5	-	12	2035	c.1189T>C	c.(1189-1191)Ttc>Ctc	p.F397L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	397					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCTCAAGAAGAACACTTGC	0.473													37	42					0	0	0	0	G	160061553	A	G	160061553	3	3	395	1	0	0	0	0	1	0	0	0	1121	72	3	5	3256	5	ATP10B	5	160061553	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	19288898	160061553	20853707	128	75802											
NSD1	64324	broad.mit.edu	37	chr5	176637807	176637807	+	Frame_Shift_Del	DEL	C	C	-																															aaaatccagttatggcagaaCccccagttataaatgaggag																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:176637807delC	ENST00000439151.2	+	5	2452	c.2407delC	c.(2407-2409)ccfs	p.P804fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.P535fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.P701fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.P535fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	804					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATGGCAGAACCCCCAGTTAT	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			15	25	---	---	---	---					-	176637807	C	-	176637807	7	5	395	1	0	1	0	1	0	0	0	0	10740	507	18	0	2421	0	NSD1	5	176637807	Frame_Shift_Del	DEL	C	TCGA-DQ-7595-01A-11D-2229-08	16576254	176637807	4277453	129	75803											
HFE	3077	broad.mit.edu	37	chr6	26091192	26091192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatcatgagagtcgccGtgtggagccccgaactccat	9	9	11	12	3	1	2	1	2	0	1	3	5	2	3	4	1	2	0	4	1	2	1	rs139523708		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:26091192G>T	ENST00000357618.5	+	2	322	c.200G>T	c.(199-201)cGt>cTt	p.R67L	HFE_ENST00000488199.1_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.R67L|HFE_ENST00000309234.6_Missense_Mutation_p.R67L|HFE_ENST00000317896.7_Missense_Mutation_p.R67L|HFE_ENST00000349999.4_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.R67L|HFE_ENST00000353147.5_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.R67L|HFE_ENST00000397022.3_Missense_Mutation_p.R44L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	67	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAGTCGCCGTGTGGAGCCC	0.512									Hemochromatosis				35	85					4.11147e-13	5.18989e-13	1	0	T	26091192	G	T	26091192	3	4	395	1	0	0	0	0	1	0	0	0	7131	1145	40	3	206	3	HFE	6	26091192	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08		26091192	145023875	130	75804											
GLP1R	2740	broad.mit.edu	37	chr6	39046126	39046126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgtttgttgtcccctgGggcattgtcaagtacctcta	5	15	10	11	0	2	0	1	0	1	0	3	0	3	0	3	2	2	5	3	2	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:39046126G>T	ENST00000373256.4	+	8	895	c.852G>T	c.(850-852)tgG>tgT	p.W284C		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	284					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TTGTCCCCTGGGGCATTGTCA	0.602													19	66					8.10497e-08	9.24567e-08	1	0	T	39046126	G	T	39046126	3	4	395	1	0	0	0	0	1	0	0	0	6503	1241	43	4	882	4	GLP1R	6	39046126	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	12954934	39046126	132068941	131	75805											
UBR2	23304	broad.mit.edu	37	chr6	42574326	42574326	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattttaaatatctttacaGgggcgtaggtctgttcgata	11	16	9	5	2	2	0	0	0	2	0	3	1	2	0	0	3	1	2	0	3	7	9			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:42574326G>A	ENST00000372901.1	+	7	1059		c.e7-1		UBR2_ENST00000372903.2_Splice_Site|UBR2_ENST00000372899.1_Splice_Site			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2						cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TATCTTTACAGGGGCGTAGGT	0.264													15	51					0	0	0	0	A	42574326	G	A	42574326	5	1	395	1	0	0	0	0	0	0	1	0	16998	1014	35	4	827	4	UBR2	6	42574326	Splice_Site	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3528200	42574326	128540741	132	75806											
CRISP2	7180	broad.mit.edu	37	chr6	49660603	49660603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttaggagatcttgatactgGcaactattggctgtaacaaa	13	12	9	7	0	1	2	0	1	1	1	1	3	1	2	0	3	3	3	0	3	6	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:49660603G>C	ENST00000339139.4	-	10	851	c.615C>G	c.(613-615)tgC>tgG	p.C205W		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	205						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGATACTGGCAACTATTGG	0.413													13	43					0	0	0	0	C	49660603	G	C	49660603	3	2	395	1	0	0	0	0	1	0	0	0	3910	1195	42	4	120	4	CRISP2	6	49660603	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	7086277	49660603	121454464	133	75807											
PHF3	23469	broad.mit.edu	37	chr6	64422589	64422589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgtagaggaaaagttgtGttctgcagagaaaaactcgt	15	10	11	5	1	1	2	0	0	1	2	2	4	1	3	0	1	2	4	0	1	6	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:64422589G>T	ENST00000262043.3	+	16	5445	c.5105G>T	c.(5104-5106)tGt>tTt	p.C1702F	PHF3_ENST00000393387.1_Missense_Mutation_p.C1702F			Q92576	PHF3_HUMAN	PHD finger protein 3	1702					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAAAGTTGTGTTCTGCAGAG	0.413													12	66					2.27111e-07	2.55915e-07	1	0	T	64422589	G	T	64422589	3	4	395	1	0	0	0	0	1	0	0	0	11908	1377	48	4	5163	4	PHF3	6	64422589	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	14761986	64422589	106692478	134	75808											
BAI3	577	broad.mit.edu	37	chr6	69685162	69685162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctctctcagtcttcatgGagtggccttctgggaacagc	6	12	11	12	0	5	0	2	0	3	0	6	2	5	2	1	3	3	1	1	3	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:69685162G>T	ENST00000370598.1	+	10	2485	c.1664G>T	c.(1663-1665)gGa>gTa	p.G555V		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	555					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGTCTTCATGGAGTGGCCTTC	0.468													22	45					1.96895e-08	2.26846e-08	1	0	T	69685162	G	T	69685162	3	4	395	1	0	0	0	0	1	0	0	0	1304	1174	41	2	1694	2	BAI3	6	69685162	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	5262573	69685162	101429905	135	75809											
BAI3	577	broad.mit.edu	37	chr6	70071009	70071009	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaattgcggagaactgtgTacttatgtacggatgataat	12	13	12	4	2	0	3	0	2	0	1	0	5	0	4	0	2	4	2	0	2	6	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:70071009T>G	ENST00000370598.1	+	29	4665	c.3844T>G	c.(3844-3846)Tac>Gac	p.Y1282D	BAI3_ENST00000238918.8_Missense_Mutation_p.Y488D|BAI3_ENST00000546190.1_Missense_Mutation_p.Y246D	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1282					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGAACTGTGTACTTATGTAC	0.413													24	44					0	0	0	0	G	70071009	T	G	70071009	3	3	395	1	0	0	0	0	1	0	0	0	1304	1638	57	5	3950	5	BAI3	6	70071009	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	385847	70071009	101044058	136	75810											
SNAP91	9892	broad.mit.edu	37	chr6	84311131	84311131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaatctgtgcttcagaggGaacagaggaaagtgcagcca	14	7	13	7	0	2	3	1	1	1	2	2	5	2	5	1	2	4	2	1	2	3	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:84311131G>A	ENST00000428679.2	-	16	1776	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	SNAP91_ENST00000520302.1_Missense_Mutation_p.P393S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P395S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P395S|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P395S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P395S|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.P395S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	395	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCTTCAGAGGGAACAGAGGAA	0.448													12	30					0	0	0	0	A	84311131	G	A	84311131	3	1	395	1	0	0	0	0	1	0	0	0	14921	1174	41	2	1596	2	SNAP91	6	84311131	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	14240122	84311131	86803936	137	75811											
PRDM13	59336	broad.mit.edu	37	chr6	100061923	100061923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacaacggggagctgctctAcggctcaccggccaccaccg	8	5	11	17	4	2	0	1	0	1	0	2	1	2	1	4	4	5	3	4	4	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:100061923A>G	ENST00000369214.1	+	4	1703	c.1442A>G	c.(1441-1443)tAc>tGc	p.Y481C	PRDM13_ENST00000369215.4_Missense_Mutation_p.Y471C	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GAGCTGCTCTACGGCTCACCG	0.637													18	68					0	0	0	0	G	100061923	A	G	100061923	3	3	395	1	0	0	0	0	1	0	0	0	12534	391	14	5	1426	5	PRDM13	6	100061923	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	15750792	100061923	71053144	138	75812											
GPR6	2830	broad.mit.edu	37	chr6	110300652	110300652	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttcgtgctggtaggcAgcctggccaccgctgacctg	5	9	13	14	2	0	1	0	1	0	0	1	1	0	1	5	3	2	5	5	3	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:110300652A>T	ENST00000414000.2	+	3	621	c.382A>T	c.(382-384)Agc>Tgc	p.S128C	GPR6_ENST00000275169.3_Missense_Mutation_p.S113C			P46095	GPR6_HUMAN	G protein-coupled receptor 6	113						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCTGGTAGGCAGCCTGGCCAC	0.642													43	127					0	0	0	0	T	110300652	A	T	110300652	3	4	395	1	0	0	0	0	1	0	0	0	6750	188	7	5	339	5	GPR6	6	110300652	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	10238729	110300652	60814415	139	75813											
GPR6	2830	broad.mit.edu	37	chr6	110300952	110300952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggaactgcctggcagagCgcgccgcctgcagcgtggtg	5	6	17	13	4	0	1	0	0	0	1	0	2	0	2	3	3	5	3	3	3	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:110300952C>A	ENST00000414000.2	+	3	921	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	GPR6_ENST00000275169.3_Missense_Mutation_p.R213S			P46095	GPR6_HUMAN	G protein-coupled receptor 6	213						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCTGGCAGAGCGCGCCGCCTG	0.697													6	16					3.59834e-05	3.86612e-05	1	0	A	110300952	C	A	110300952	3	1	395	1	0	0	0	0	1	0	0	0	6750	768	27	3	639	3	GPR6	6	110300952	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	300	110300952	60814115	140	75814											
TRDN	10345	broad.mit.edu	37	chr6	123786059	123786059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaagtacttgccttcaaggGcaggtgatgccggagtgggt	10	9	15	7	1	1	1	1	1	0	0	1	2	1	2	2	4	3	2	2	4	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:123786059G>T	ENST00000334268.4	-	10	1240	c.923C>A	c.(922-924)gCc>gAc	p.A308D	RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000398178.3_Missense_Mutation_p.A308D|RP11-532N4.2_ENST00000587106.1_RNA|TRDN_ENST00000546248.1_Missense_Mutation_p.A288D|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA			Q13061	TRDN_HUMAN	triadin	308					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GCCTTCAAGGGCAGGTGATGC	0.408													4	14					0.00024832	0.000263733	1	0	T	123786059	G	T	123786059	3	4	395	1	0	0	0	0	1	0	0	0	16563	1203	42	4	1394	4	TRDN	6	123786059	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	13485107	123786059	47329008	141	75815											
LAMA2	3908	broad.mit.edu	37	chr6	129470220	129470220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagagctggaacttttCtaactaaaactgaatgtgaa	14	11	9	7	0	1	3	0	2	1	1	1	5	1	4	1	2	4	1	1	2	6	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:129470220C>A	ENST00000421865.2	+	7	1055	c.1006C>A	c.(1006-1008)Cta>Ata	p.L336I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	336	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGAACTTTTCTAACTAAAAC	0.393													15	51					7.93312e-07	8.8529e-07	1	0	A	129470220	C	A	129470220	3	1	395	1	0	0	0	0	1	0	0	0	8659	912	32	2	1032	2	LAMA2	6	129470220	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	5684161	129470220	41644847	142	75816											
TMEM200A	114801	broad.mit.edu	37	chr6	130762041	130762041	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaaagagaccaaaatcatAcacatgagggatatctattc	18	8	7	8	0	2	2	1	1	1	1	3	5	2	3	1	1	1	0	1	1	6	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:130762041A>T	ENST00000392429.1	+	2	2852	c.474A>T	c.(472-474)atA>atT	p.I158I	TMEM200A_ENST00000296978.3_Silent_p.I158I|TMEM200A_ENST00000545622.1_Silent_p.I158I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	158						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAAAATCATACACATGAGGG	0.408													27	80					0	0	0	0	T	130762041	A	T	130762041	2	4	395	1	0	0	0	0	0	0	0	1	16217	381	14	5		5	TMEM200A	6	130762041	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	1291821	130762041	40353026	143	75817											
EYA4	2070	broad.mit.edu	37	chr6	133785942	133785942	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttttgcaccatcatctacTatttatgcaaataattcagt	13	16	4	8	0	3	0	2	0	1	0	3	0	3	0	1	0	3	3	1	0	5	8			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:133785942T>G	ENST00000367895.5	+	10	1214	c.750T>G	c.(748-750)acT>acG	p.T250T	EYA4_ENST00000452339.2_Silent_p.T196T|EYA4_ENST00000355167.3_Silent_p.T250T|EYA4_ENST00000431403.2_Silent_p.T250T|EYA4_ENST00000430974.2_Silent_p.T196T|EYA4_ENST00000355286.6_Silent_p.T227T|EYA4_ENST00000531901.1_Silent_p.T250T|EYA4_ENST00000525849.1_Silent_p.T227T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	250					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATCATCTACTATTTATGCAA	0.284													6	21					0	0	0	0	G	133785942	T	G	133785942	2	3	395	1	0	0	0	0	0	0	0	1	5369	1509	53	5		5	EYA4	6	133785942	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	3023901	133785942	37329125	144	75818											
KIAA1244	57221	broad.mit.edu	37	chr6	138584501	138584501	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgggcaggtccgacgtGtcagacattgggtcggacaa	9	7	15	10	4	1	1	1	0	0	1	4	4	2	2	1	4	0	1	1	4	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:138584501G>T	ENST00000251691.4	+	12	2047	c.1881G>T	c.(1879-1881)gtG>gtT	p.V627V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	627	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGTCCGACGTGTCAGACATTG	0.542													50	186					7.34454e-26	1.06037e-25	1	0	T	138584501	G	T	138584501	2	4	395	1	0	0	0	0	0	0	0	1	8268	1364	48	4		4	KIAA1244	6	138584501	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	4798559	138584501	32530566	145	75819											
SASH1	23328	broad.mit.edu	37	chr6	148711272	148711272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtccaccccttcaggaCggttcactgggaaacatcga	9	10	10	12	2	2	0	2	0	0	0	4	3	3	2	3	3	1	2	3	3	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:148711272C>A	ENST00000367467.3	+	2	634	c.159C>A	c.(157-159)gaC>gaA	p.D53E	SASH1_ENST00000367469.1_Missense_Mutation_p.D8E	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	53							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCTTCAGGACGGTTCACTGG	0.532													5	181					0.014758	0.0151179	1	0	A	148711272	C	A	148711272	3	1	395	1	0	0	0	0	1	0	0	0	13934	535	19	3	165	3	SASH1	6	148711272	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	10126771	148711272	22403795	146	75820											
NUP43	348995	broad.mit.edu	37	chr6	150052870	150052870	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaaagtgaacttcccaCactaagagacaagaatcaat	17	7	9	8	0	1	4	1	2	0	2	2	5	2	4	1	1	1	0	1	1	6	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:150052870C>A	ENST00000340413.2	-	7	868	c.790_splice	c.e7-1	p.M264_splice	NUP43_ENST00000460354.2_Splice_Site_p.M264_splice|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Splice_Site_p.V168_splice	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	264					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GAACTTCCCACACTAAGAGAC	0.448													16	52					8.10497e-08	9.24567e-08	1	0	A	150052870	C	A	150052870	5	1	395	1	0	0	0	0	0	0	1	0	10836	492	17	4	358	4	NUP43	6	150052870	Splice_Site	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1341598	150052870	21062197	147	75821											
SYNE1	23345	broad.mit.edu	37	chr6	152763213	152763213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taacttccggctcctacctgGatgcggcgttcctgcctctc	4	12	9	16	3	1	0	0	0	1	0	5	1	4	1	5	3	4	2	5	3	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:152763213G>C	ENST00000367255.5	-	31	4606	c.4005C>G	c.(4003-4005)atC>atG	p.I1335M	SYNE1_ENST00000413186.2_Missense_Mutation_p.I1335M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I1342M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I1335M|SYNE1_ENST00000367253.4_Missense_Mutation_p.I1335M|SYNE1_ENST00000367248.3_Missense_Mutation_p.I1325M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I1342M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I1401M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1335					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTACCTGGATGCGGCGTT	0.617										HNSCC(10;0.0054)			31	93					0	0	0	0	C	152763213	G	C	152763213	3	2	395	1	0	0	0	0	1	0	0	0	15536	1164	41	2	22925	2	SYNE1	6	152763213	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2710343	152763213	18351854	148	75822											
TBP	6908	broad.mit.edu	37	chr6	170871031	170871031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcagcagcaacagcaacagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:170871031G>A	ENST00000392092.2	+	3	486	c.207G>A	c.(205-207)caG>caA	p.Q69Q	TBP_ENST00000540980.1_Silent_p.Q49Q|TBP_ENST00000230354.6_Silent_p.Q69Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	69	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcaac	0.572													7	89					0	0	0	0	A	170871031	G	A	170871031	2	1	395	1	0	0	0	0	0	0	0	1	15738	962	34	4		4	TBP	6	170871031	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	18107818	170871031	244036	149	75823											
MAD1L1	8379	broad.mit.edu	37	chr7	2265108	2265108	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgagccctcttgtgactCagctccatctgcattttctc	6	14	6	15	1	4	1	1	1	3	0	7	2	5	1	2	0	3	2	2	0	0	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:2265108C>A	ENST00000406869.1	-	4	785	c.228G>T	c.(226-228)ctG>ctT	p.L76L	MAD1L1_ENST00000265854.7_Silent_p.L76L|MAD1L1_ENST00000399654.2_Silent_p.L76L|MAD1L1_ENST00000402746.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	76					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			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)		TCTTGTGACTCAGCTCCATCT	0.612													28	80					4.22769e-11	5.1265e-11	1	0	A	2265108	C	A	2265108	2	1	395	1	0	0	0	0	0	0	0	1	9212	813	29	2		2	MAD1L1	7	2265108	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		2265108	156873555	150	75824											
MACC1	346389	broad.mit.edu	37	chr7	20197937	20197937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttgtctgcttgaatttGatcaaaatcttccagggaca	10	16	7	8	0	4	2	1	2	3	0	5	3	5	3	1	1	1	1	1	1	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:20197937G>C	ENST00000400331.5	-	5	2355	c.2047C>G	c.(2047-2049)Caa>Gaa	p.Q683E	MACC1_ENST00000332878.4_Missense_Mutation_p.Q683E|MACC1_ENST00000589011.1_Missense_Mutation_p.Q683E	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	683					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GCTTGAATTTGATCAAAATCT	0.353													13	50					0	0	0	0	C	20197937	G	C	20197937	3	2	395	1	0	0	0	0	1	0	0	0	9208	1299	45	2	523	2	MACC1	7	20197937	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	17932829	20197937	138940726	151	75825											
SP4	6671	broad.mit.edu	37	chr7	21550667	21550667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatttgaatgcccggaatGttctaaaaggtttatgcgga	12	12	12	5	2	1	2	0	1	1	1	1	5	1	4	1	3	2	2	1	3	5	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:21550667G>A	ENST00000222584.3	+	6	2353	c.2135G>A	c.(2134-2136)tGt>tAt	p.C712Y		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	712					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGCCCGGAATGTTCTAAAAGG	0.373													10	52					0	0	0	0	A	21550667	G	A	21550667	3	1	395	1	0	0	0	0	1	0	0	0	15054	1377	48	4	2157	4	SP4	7	21550667	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1352730	21550667	137587996	152	75826											
NEUROD6	63974	broad.mit.edu	37	chr7	31378538	31378538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccacttttcttaagttGtccagagcgtcgttgaggcc	7	12	12	10	2	1	2	0	1	1	1	3	3	2	3	3	2	1	2	3	2	1	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:31378538G>T	ENST00000297142.3	-	2	667	c.345C>A	c.(343-345)gaC>gaA	p.D115E		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	115	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTCTTAAGTTGTCCAGAGCGT	0.473													29	117					8.58068e-18	1.17286e-17	1	0	T	31378538	G	T	31378538	3	4	395	1	0	0	0	0	1	0	0	0	10421	1368	48	4	672	4	NEUROD6	7	31378538	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9827871	31378538	127760125	153	75827											
POM121L12	285877	broad.mit.edu	37	chr7	53103798	53103798	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgggatcgcgccccctgAgcgtcaggagagcccctgga	7	5	14	15	4	1	2	1	1	0	1	3	5	1	4	4	3	2	0	4	3	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:53103798A>T	ENST00000408890.4	+	1	450	c.434A>T	c.(433-435)gAg>gTg	p.E145V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	145										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCCCCCTGAGCGTCAGGAG	0.711													10	37					0	0	0	0	T	53103798	A	T	53103798	3	4	395	1	0	0	0	0	1	0	0	0	12313	304	11	5	436	5	POM121L12	7	53103798	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	21725260	53103798	106034865	154	75828											
ZNF92	168374	broad.mit.edu	37	chr7	64864433	64864433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtattctcaacccttaCtaaacataaaataattcata	17	14	2	8	0	2	0	2	0	1	0	3	0	2	0	1	0	3	1	1	0	10	9			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:64864433C>G	ENST00000328747.7	+	4	1605	c.1406C>G	c.(1405-1407)aCt>aGt	p.T469S	ZNF92_ENST00000450302.2_Missense_Mutation_p.T400S|ZNF92_ENST00000431504.1_Missense_Mutation_p.T393S|ZNF92_ENST00000357512.2_Missense_Mutation_p.T437S	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	469						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TCAACCCTTACTAAACATAAA	0.323													11	43					0	0	0	0	G	64864433	C	G	64864433	3	3	395	1	0	0	0	0	1	0	0	0	18294	565	20	4	1420	4	ZNF92	7	64864433	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	11760635	64864433	94274230	155	75829											
TYW1B	441250	broad.mit.edu	37	chr7	72159756	72159756	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcgattttcttcaggCtgtctttggtactggcatcc	4	15	12	10	2	3	0	1	0	2	0	5	1	4	0	1	5	1	3	1	5	1	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:72159756C>A	ENST00000438125.1	-	0	1040							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTTCTTCAGGCTGTCTTTGGT	0.393													22	52					4.26978e-12	5.27443e-12	1	0	A	72159756	C	A	72159756	1	1	395	0	1	0	0	0	0	0	0	0	16915	797	28	4		4	TYW1B	7	72159756	RNA	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	7295323	72159756	86978907	156	75830											
SEMA3A	10371	broad.mit.edu	37	chr7	83610669	83610669	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatagcgagaacatgcAgaaccatcccaagcacagta	18	4	9	10	1	0	2	0	0	0	2	1	4	1	3	2	1	5	3	2	1	7	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:83610669A>T	ENST00000265362.3	-	14	1934	c.1620T>A	c.(1618-1620)tcT>tcA	p.S540S	SEMA3A_ENST00000436949.1_Silent_p.S540S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	540					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAGAACATGCAGAACCATCCC	0.448													4	37					0	0	0	0	T	83610669	A	T	83610669	2	4	395	1	0	0	0	0	0	0	0	1	14111	175	7	5		5	SEMA3A	7	83610669	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	11450913	83610669	75527994	157	75831											
STEAP4	79689	broad.mit.edu	37	chr7	87912279	87912279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataagggtagattacgtctcTtataacacaatagaaaaaca	19	10	6	6	1	1	2	0	0	1	2	2	2	1	2	0	1	3	1	0	1	9	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:87912279T>C	ENST00000380079.4	-	3	762	c.661A>G	c.(661-663)Aga>Gga	p.R221G	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.R221G	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	221					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATTACGTCTCTTATAACACAA	0.363													28	65					0	0	0	0	C	87912279	T	C	87912279	3	2	395	1	0	0	0	0	1	0	0	0	15370	1617	56	5	730	5	STEAP4	7	87912279	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	4301610	87912279	71226384	158	75832											
CDK6	1021	broad.mit.edu	37	chr7	92300836	92300836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttcgggtgctctgtacCacagcgtgacgacctgcaat	9	9	11	12	3	1	2	0	1	1	1	2	3	1	2	2	1	4	3	2	1	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:92300836C>T	ENST00000265734.4	-	5	962	c.551G>A	c.(550-552)tGg>tAg	p.W184*	CDK6_ENST00000424848.2_Nonsense_Mutation_p.W184*	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	184	Protein kinase.				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			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)			TGCTCTGTACCACAGCGTGAC	0.502			T	MLLT10	ALL								16	57					0	0	0	0	T	92300836	C	T	92300836	4	4	395	1	0	0	0	0	0	1	0	0	3177	595	21	4	445	4	CDK6	7	92300836	Nonsense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	4388557	92300836	66837827	159	75833											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539822	94539822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttgacactatgtacgatGgcccttcatattccaagttc	10	14	7	10	1	1	1	1	1	0	0	3	3	2	1	2	1	1	2	2	1	4	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:94539822G>T	ENST00000289495.5	+	1	613	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G133C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G133C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G133C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G133C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G133C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	133	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATGTACGATGGCCCTTCATA	0.403										HNSCC(28;0.073)			30	85					2.08457e-15	2.76744e-15	1	0	T	94539822	G	T	94539822	3	4	395	1	0	0	0	0	1	0	0	0	12454	1348	47	4	399	4	PPP1R9A	7	94539822	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2238986	94539822	64598841	160	75834											
SH2B2	10603	broad.mit.edu	37	chr7	101944494	101944494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggctcagtggcagaaGtgccgcctgctcctgcgcag	5	7	15	14	3	1	1	1	0	0	1	3	1	2	1	3	3	3	5	3	3	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:101944494G>C	ENST00000536178.1	+	2	834	c.789G>C	c.(787-789)aaG>aaC	p.K263N	SH2B2_ENST00000306803.8_Missense_Mutation_p.K220N			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	220	PH.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						AGTGGCAGAAGTGCCGCCTGC	0.677													6	17					0	0	0	0	C	101944494	G	C	101944494	3	2	395	1	0	0	0	0	1	0	0	0	14315	1020	36	4	795	4	SH2B2	7	101944494	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	7404672	101944494	57194169	161	75835											
RELN	5649	broad.mit.edu	37	chr7	103123389	103123389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcgtggttgccaccagCgcagtaagactcctttcatc	7	11	11	12	2	1	1	1	0	0	1	3	1	2	1	3	2	2	3	3	2	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:103123389C>T	ENST00000428762.1	-	63	10370	c.10211G>A	c.(10210-10212)cGc>cAc	p.R3404H	RELN_ENST00000424685.2_Missense_Mutation_p.R3404H|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.R3404H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3404					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGCCACCAGCGCAGTAAGAC	0.473													26	73					0	0	0	0	T	103123389	C	T	103123389	3	4	395	1	0	0	0	0	1	0	0	0	13302	768	27	1	183	1	RELN	7	103123389	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1178895	103123389	56015274	162	75836											
PODXL	5420	broad.mit.edu	37	chr7	131191357	131191357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgaatagtgatttctttGacgaccacggtctgacttcc	8	14	9	10	2	2	4	0	4	2	0	3	5	3	4	2	1	0	0	2	1	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:131191357G>A	ENST00000541194.1	-	6	1493	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	PODXL_ENST00000378555.3_Silent_p.V410V|PODXL_ENST00000322985.9_Silent_p.V378V|PODXL_ENST00000537928.1_Silent_p.V378V	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	410					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGATTTCTTTGACGACCACGG	0.582											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	137					0	0	0	0	A	131191357	G	A	131191357	2	1	395	1	0	0	0	0	0	0	0	1	12252	1277	45	2		2	PODXL	7	131191357	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	28067968	131191357	27947306	163	75837											
UBN2	254048	broad.mit.edu	37	chr7	138964071	138964071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttatcttagggcaaagAaaaaggtgattcctgcacct	12	13	8	8	0	1	2	0	1	1	1	2	2	2	2	2	2	1	2	2	2	5	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:138964071A>G	ENST00000288561.8	+	13	2032	c.1783A>G	c.(1783-1785)Aaa>Gaa	p.K595E	UBN2_ENST00000473989.2_Missense_Mutation_p.K678E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	678										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAGGGCAAAGAAAAAGGTGAT	0.284													6	35					0	0	0	0	G	138964071	A	G	138964071	3	3	395	1	0	0	0	0	1	0	0	0	16989	247	9	5	2082	5	UBN2	7	138964071	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	7772714	138964071	20174592	164	75838											
MGAM	8972	broad.mit.edu	37	chr7	141765160	141765160	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggtgacgggacagCgaggggtcgtcatcacccgc	8	5	17	11	4	2	1	2	1	0	0	3	4	2	3	1	5	2	1	1	5	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:141765160C>T	ENST00000475668.2	+	38	4564	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.R1504*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1504	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACGGGACAGCGAGGGGTCGT	0.602													6	13					0	0	0	0	T	141765160	C	T	141765160	4	4	395	1	0	0	0	0	0	1	0	0	9610	760	27	1	4656	1	MGAM	7	141765160	Nonsense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2801089	141765160	17373503	165	75839											
OR2F2	135948	broad.mit.edu	37	chr7	143632858	143632858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtttattgatcacatatCctgtgaactcctagctgtgg	10	14	8	9	0	1	2	1	2	0	0	3	2	3	2	2	1	2	2	2	1	5	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:143632858C>A	ENST00000408955.2	+	1	600	c.533C>A	c.(532-534)tCc>tAc	p.S178Y		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GATCACATATCCTGTGAACTC	0.498													13	58					1.05317e-09	1.25403e-09	1	0	A	143632858	C	A	143632858	3	1	395	1	0	0	0	0	1	0	0	0	11068	855	30	2	535	2	OR2F2	7	143632858	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1867698	143632858	15505805	166	75840											
CNTNAP2	26047	broad.mit.edu	37	chr7	146805398	146805398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcaaggagattacattaCcttggaactgaaaaaagcca	18	7	8	8	0	0	2	0	1	0	1	0	4	0	3	2	2	5	1	2	2	7	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:146805398C>T	ENST00000361727.3	+	5	1226	c.710C>T	c.(709-711)aCc>aTc	p.T237I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	237	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATTACATTACCTTGGAACTG	0.403										HNSCC(39;0.1)			8	29					0	0	0	0	T	146805398	C	T	146805398	3	4	395	1	0	0	0	0	1	0	0	0	3677	507	18	4	728	4	CNTNAP2	7	146805398	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3172540	146805398	12333265	167	75841											
ZNF398	57541	broad.mit.edu	37	chr7	148876806	148876806	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggtcccctcataactggGcttgaaacttctggcctggg	7	10	11	13	0	2	1	1	1	1	0	3	1	3	1	4	4	2	1	4	4	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:148876806G>T	ENST00000420008.2	+	6	2117	c.1329G>T	c.(1327-1329)ggG>ggT	p.G443G	ZNF398_ENST00000335901.4_Silent_p.G443G|ZNF398_ENST00000540950.1_Silent_p.G619G|ZNF398_ENST00000426851.2_Silent_p.G443G|ZNF398_ENST00000491174.1_Silent_p.G443G|ZNF398_ENST00000475153.1_Silent_p.G614G|ZNF398_ENST00000483892.1_Silent_p.G443G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	614					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TCATAACTGGGCTTGAAACTT	0.552													11	46					1.58986e-06	1.76567e-06	1	0	T	148876806	G	T	148876806	2	4	395	1	0	0	0	0	0	0	0	1	17980	1190	42	4		4	ZNF398	7	148876806	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2071408	148876806	10261857	168	75842											
PTPRN2	5799	broad.mit.edu	37	chr7	157475424	157475424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtctcctcttacctggtagGcggcagtggcatctgcacct	6	11	11	13	1	3	0	0	0	3	0	4	0	3	0	3	4	2	4	3	4	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:157475424G>A	ENST00000389413.3	-	12	2010	c.1907C>T	c.(1906-1908)gCc>gTc	p.A636V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A648V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A688V|PTPRN2_ENST00000389418.4_Missense_Mutation_p.A665V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A627V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	665						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TACCTGGTAGGCGGCAGTGGC	0.557													45	124					0	0	0	0	A	157475424	G	A	157475424	3	1	395	1	0	0	0	0	1	0	0	0	12890	1203	42	4	1097	4	PTPRN2	7	157475424	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	8598618	157475424	1663239	169	75843											
MYOM2	9172	broad.mit.edu	37	chr8	2054178	2054178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtttaaaatcgaaaccGtgggggatcagtaagtcagg	14	8	14	5	2	2	1	2	0	0	1	3	3	2	2	1	4	1	2	1	4	4	3	rs140995511		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:2054178G>A	ENST00000262113.4	+	22	3022	c.2881G>A	c.(2881-2883)Gtg>Atg	p.V961M	MYOM2_ENST00000523438.1_Missense_Mutation_p.V386M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	961	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AATCGAAACCGTGGGGGATCA	0.448													28	84					0	0	0	0	A	2054178	G	A	2054178	3	1	395	1	0	0	0	0	1	0	0	0	10162	1145	40	1	2963	1	MYOM2	8	2054178	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08		2054178	144309844	170	75844											
CSMD1	64478	broad.mit.edu	37	chr8	2886890	2886890	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccacgtcccattggcctgGcaccgcaggagcctccagcc	6	7	10	18	2	0	0	0	0	0	0	3	1	3	1	7	3	2	2	7	3	0	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:2886890G>T	ENST00000602557.1	-	52	8364	c.7809C>A	c.(7807-7809)tgC>tgA	p.C2603*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.C2603*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.C2603*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.C2603*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.C2602*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.C2602*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2603	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTGGCCTGGCACCGCAGGA	0.532													9	28					0.000442599	0.000466851	1	0	T	2886890	G	T	2886890	4	4	395	1	0	0	0	0	0	1	0	0	3976	1195	42	4	2968	4	CSMD1	8	2886890	Nonsense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	832712	2886890	143477132	171	75845											
DLC1	10395	broad.mit.edu	37	chr8	13259101	13259101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccatggagtccagccGcgccctatctcgatcttctc	7	9	8	17	3	3	0	0	0	3	0	6	2	4	1	4	1	2	1	4	1	1	2	rs144283917		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:13259101G>A	ENST00000276297.4	-	3	1460	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	DLC1_ENST00000511869.1_Missense_Mutation_p.R351W|DLC1_ENST00000316609.5_Missense_Mutation_p.R351W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	351					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R351W(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGTCCAGCCGCGCCCTATCT	0.448													30	84					0	0	0	0	A	13259101	G	A	13259101	3	1	395	1	0	0	0	0	1	0	0	0	4587	1086	38	1	3684	1	DLC1	8	13259101	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	10372211	13259101	133104921	172	75846											
SGCZ	137868	broad.mit.edu	37	chr8	13948076	13948077	+	Frame_Shift_Ins	INS	-	-	T																															ctgtcgagaacttgaggagcINStgggtgaagaagatgagaag																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:13948076_13948077insT	ENST00000382080.1	-	8	1529_1530	c.814_815insA	c.(814-816)ctcfs	p.L272fs	SGCZ_ENST00000421524.2_Frame_Shift_Ins_p.L225fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	259					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.S272I(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACTTGAGGAGCTGGGTGAAGAA	0.431													24	95	---	---	---	---					T	13948077	-	T	13948076	7	5	395	1	0	1	1	0	0	0	0	0	14291	797	28	0	127	0	SGCZ	8	13948076	Frame_Shift_Ins	INS	-	TCGA-DQ-7595-01A-11D-2229-08	688975	13948076	132415946	173	75847											
STMN4	81551	broad.mit.edu	37	chr8	27099981	27099981	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaacaaggacaccagCgggagctccttcatcttctc	11	7	10	13	1	3	1	1	0	2	1	5	4	4	3	2	2	4	2	2	2	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:27099981C>A	ENST00000350889.4	-	3	155	c.42G>T	c.(40-42)ccG>ccT	p.P14P	STMN4_ENST00000522908.1_Silent_p.P14P|STMN4_ENST00000519614.1_Silent_p.P14P|STMN4_ENST00000519997.1_Silent_p.P5P|STMN4_ENST00000523048.1_Silent_p.P14P|STMN4_ENST00000265770.7_Silent_p.P14P	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	14					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		AGGACACCAGCGGGAGCTCCT	0.567													12	53					1.52009e-12	1.89294e-12	1	0	A	27099981	C	A	27099981	2	1	395	1	0	0	0	0	0	0	0	1	15401	755	27	3		3	STMN4	8	27099981	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	13151905	27099981	119264041	174	75848											
UNC5D	137970	broad.mit.edu	37	chr8	35542108	35542108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctctctcagtgaatggaGgctggtcttcctggacagag	7	13	12	9	0	3	2	1	1	3	1	6	4	4	4	1	4	0	1	1	4	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:35542108G>A	ENST00000453357.2	+	6	801	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	UNC5D_ENST00000416672.1_Missense_Mutation_p.G254S|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Missense_Mutation_p.G254S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	254					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGTGAATGGAGGCTGGTCTTC	0.527													25	56					0	0	0	0	A	35542108	G	A	35542108	3	1	395	1	0	0	0	0	1	0	0	0	17091	1000	35	4	782	4	UNC5D	8	35542108	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	8442127	35542108	110821914	175	75849											
UNC5D	137970	broad.mit.edu	37	chr8	35583803	35583803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactctttaaccctttgtcGgacatcaaagtgaaagtcca	12	12	6	11	1	3	1	2	1	1	0	5	2	4	2	2	1	1	0	2	1	3	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:35583803G>A	ENST00000287272.2	+	9	1250	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S	UNC5D_ENST00000416672.1_Silent_p.S484S|UNC5D_ENST00000453357.2_Silent_p.S474S|UNC5D_ENST00000420357.1_Silent_p.S412S|UNC5D_ENST00000404895.2_Silent_p.S479S|UNC5D_ENST00000449677.1_Silent_p.S55S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	479					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCTTTGTCGGACATCAAAG	0.522													15	37					0	0	0	0	A	35583803	G	A	35583803	2	1	395	1	0	0	0	0	0	0	0	1	17091	1103	39	1		1	UNC5D	8	35583803	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	41695	35583803	110780219	176	75850											
ADAM18	8749	broad.mit.edu	37	chr8	39587436	39587436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaattcatccgttgtatcaGaaagcgatgacgtgggacat	12	11	11	7	3	2	2	2	1	0	1	3	4	3	3	1	1	1	3	1	1	3	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:39587436G>C	ENST00000265707.5	+	20	2242	c.2197G>C	c.(2197-2199)Gaa>Caa	p.E733Q	ADAM18_ENST00000379866.1_Missense_Mutation_p.E709Q|ADAM18_ENST00000541111.1_Missense_Mutation_p.E147Q|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	733					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CGTTGTATCAGAAAGCGATGA	0.323													19	65					0	0	0	0	C	39587436	G	C	39587436	3	2	395	1	0	0	0	0	1	0	0	0	239	943	33	2	2275	2	ADAM18	8	39587436	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	4003633	39587436	106776586	177	75851											
ANK1	286	broad.mit.edu	37	chr8	41585479	41585479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaagctcccggaccacctCatcctgcccggctagagcag	9	5	10	17	2	1	1	1	0	0	1	3	3	3	2	5	2	3	3	5	2	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:41585479C>T	ENST00000396942.1	-	4	357	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ANK1_ENST00000379758.2_Missense_Mutation_p.E92K|ANK1_ENST00000352337.4_Missense_Mutation_p.E92K|ANK1_ENST00000265709.8_Missense_Mutation_p.E125K|ANK1_ENST00000347528.4_Missense_Mutation_p.E92K|ANK1_ENST00000396945.1_Missense_Mutation_p.E92K|ANK1_ENST00000289734.7_Missense_Mutation_p.E92K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	92	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGACCACCTCATCCTGCCCG	0.602													24	68					0	0	0	0	T	41585479	C	T	41585479	3	4	395	1	0	0	0	0	1	0	0	0	620	835	29	2	5881	2	ANK1	8	41585479	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1998043	41585479	104778543	178	75852											
CHRNA6	8973	broad.mit.edu	37	chr8	42620288	42620288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaggcctgatgaactGgttgtaatgagaaaacagtt	13	11	10	7	0	0	3	0	3	0	1	1	4	1	3	2	2	2	3	2	2	4	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:42620288G>C	ENST00000276410.2	-	2	494	c.139C>G	c.(139-141)Cag>Gag	p.Q47E	CHRNA6_ENST00000534622.1_Missense_Mutation_p.Q47E|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	47						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGATGAACTGGTTGTAATGA	0.547													36	126					0	0	0	0	C	42620288	G	C	42620288	3	2	395	1	0	0	0	0	1	0	0	0	3416	1357	47	4	1365	4	CHRNA6	8	42620288	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1034809	42620288	103743734	179	75853											
PXDNL	137902	broad.mit.edu	37	chr8	52321307	52321307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagatgctcgttggcccgGtggtccccggccaggaaaca	7	6	14	14	3	0	1	0	0	0	1	2	2	1	2	5	5	2	2	5	5	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:52321307G>T	ENST00000356297.4	-	17	2977	c.2877C>A	c.(2875-2877)caC>caA	p.H959Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.H959Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	959					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGTTGGCCCGGTGGTCCCCGG	0.667													7	14					0.00307968	0.00319016	1	0	T	52321307	G	T	52321307	3	4	395	1	0	0	0	0	1	0	0	0	12930	1252	44	4	1542	4	PXDNL	8	52321307	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9701019	52321307	94042715	180	75854											
OPRK1	4986	broad.mit.edu	37	chr8	54141939	54141939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactctgctagtgctctgcCgctccatcctcatcttcagt	5	13	8	15	1	5	0	2	0	3	0	7	1	7	1	3	1	3	3	3	1	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:54141939C>A	ENST00000265572.3	-	4	1358	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	OPRK1_ENST00000520287.1_Missense_Mutation_p.R354L|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R265L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	354					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGTGCTCTGCCGCTCCATCCT	0.483													19	48					1.45105e-14	1.86737e-14	1	0	A	54141939	C	A	54141939	3	1	395	1	0	0	0	0	1	0	0	0	10956	652	23	3	85	3	OPRK1	8	54141939	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1820632	54141939	92222083	181	75855											
RP1	6101	broad.mit.edu	37	chr8	55534123	55534123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgtggtcaagctgtaCgctacggacggaaggagggt	8	7	16	10	4	1	0	1	0	0	0	1	3	1	3	1	5	3	3	1	5	4	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:55534123C>T	ENST00000220676.1	+	2	745	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	199	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAGCTGTACGCTACGGACG	0.577													54	132					0	0	0	0	T	55534123	C	T	55534123	2	4	395	1	0	0	0	0	0	0	0	1	13617	547	19	1		1	RP1	8	55534123	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1392184	55534123	90829899	182	75856											
TRIM55	84675	broad.mit.edu	37	chr8	67067883	67067883	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatctgcctagcgctttTggcttttcttattcttcact	6	19	6	10	1	4	0	1	0	3	0	4	0	4	0	1	1	2	3	1	1	3	9			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:67067883T>A	ENST00000276573.7	+	10	1776	c.1550T>A	c.(1549-1551)tTg>tAg	p.L517*	TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000315962.4_Intron|TRIM55_ENST00000350034.4_Intron	NM_033058.2	NP_149047.2	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	0						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTAGCGCTTTTGGCTTTTCTT	0.328													10	37					0	0	0	0	A	67067883	T	A	67067883	4	1	395	1	0	0	0	0	0	1	0	0	16624	1821	63	5	1588	5	TRIM55	8	67067883	Nonsense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	11533760	67067883	79296139	183	75857											
SLC7A13	157724	broad.mit.edu	37	chr8	87242276	87242276	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatagtattgagctccActgcatgggaagcttatact	14	11	9	7	0	0	2	0	1	0	1	1	3	1	3	1	1	4	4	1	1	7	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:87242276A>G	ENST00000297524.3	-	1	334	c.231T>C	c.(229-231)agT>agC	p.S77S	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.S77S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	77						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTGAGCTCCACTGCATGGGA	0.493													26	50					0	0	0	0	G	87242276	A	G	87242276	2	3	395	1	0	0	0	0	0	0	0	1	14783	156	6	5		5	SLC7A13	8	87242276	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	20174393	87242276	59121746	184	75858											
MMP16	4325	broad.mit.edu	37	chr8	89068364	89068364	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatactgacctgtctccCttgaagaaataggttttccc	9	14	8	10	0	1	3	0	2	1	1	3	3	2	3	3	1	1	2	3	1	5	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:89068364C>T	ENST00000286614.6	-	8	1646	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	455	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACCTGTCTCCCTTGAAGAAAT	0.418													21	47					0	0	0	0	T	89068364	C	T	89068364	2	4	395	1	0	0	0	0	0	0	0	1	9724	680	24	4		4	MMP16	8	89068364	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1826088	89068364	57295658	185	75859											
RUNX1T1	862	broad.mit.edu	37	chr8	92998475	92998475	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaattcaattcttcccGgtctgcttcttgacaccgcc	7	13	6	15	2	4	1	1	1	3	0	5	1	5	1	4	1	1	2	4	1	2	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:92998475G>T	ENST00000523629.1	-	9	1610	c.1156C>A	c.(1156-1158)Cgg>Agg	p.R386R	RUNX1T1_ENST00000422361.2_Silent_p.R349R|RUNX1T1_ENST00000360348.2_Silent_p.R349R|RUNX1T1_ENST00000520724.1_Silent_p.R349R|RUNX1T1_ENST00000265814.3_Silent_p.R386R|RUNX1T1_ENST00000396218.1_Silent_p.R359R|RUNX1T1_ENST00000436581.2_Silent_p.R397R|RUNX1T1_ENST00000518844.1_Silent_p.R359R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	386			R -> W (in a colorectal cancer sample; somatic mutation).		generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R349W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AATTCTTCCCGGTCTGCTTCT	0.498													22	100					1.9806e-07	2.23725e-07	1	0	T	92998475	G	T	92998475	2	4	395	1	0	0	0	0	0	0	0	1	13832	1115	39	3		3	RUNX1T1	8	92998475	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3930111	92998475	53365547	186	75860											
POP1	10940	broad.mit.edu	37	chr8	99152363	99152363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatagaaacctgtaagaaaCctgacagcgtttcccttcat	13	10	8	10	1	1	3	1	1	0	2	2	4	2	4	3	1	3	2	3	1	4	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:99152363C>T	ENST00000401707.2	+	10	1501	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	POP1_ENST00000349693.3_Missense_Mutation_p.P474S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	474					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTGTAAGAAACCTGACAGCGT	0.488													9	24					0	0	0	0	T	99152363	C	T	99152363	3	4	395	1	0	0	0	0	1	0	0	0	12323	507	18	4	1454	4	POP1	8	99152363	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	6153888	99152363	47211659	187	75861											
RIMS2	9699	broad.mit.edu	37	chr8	105160975	105160975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgcagtgggcaccttggGcaccagtggcaaaaagcggc	10	5	14	12	1	0	0	0	0	0	0	0	0	0	0	2	4	2	4	2	4	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:105160975G>A	ENST00000436393.2	+	23	3528	c.3287G>A	c.(3286-3288)gGc>gAc	p.G1096D	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	524					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCACCTTGGGCACCAGTGGC	0.532										HNSCC(12;0.0054)			21	38					0	0	0	0	A	105160975	G	A	105160975	3	1	395	1	0	0	0	0	1	0	0	0	13453	1218	42	4		4	RIMS2	8	105160975	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	6008612	105160975	41203047	188	75862											
KCNV1	27012	broad.mit.edu	37	chr8	110980332	110980333	+	Frame_Shift_Ins	INS	-	-	AC																															taattcaaaaccagaaatcaINStctcccccgctgctcctagt																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:110980332_110980333insAC	ENST00000524391.1	-	4	2519_2520	c.1487_1488insGT	c.(1486-1488)ggafs	p.G496fs	KCNV1_ENST00000297404.1_Frame_Shift_Ins_p.G496fs			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	496						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACCAGAAATCATCTCCCCCGCT	0.371													8	46	---	---	---	---					AC	110980333	-	AC	110980332	7	5	395	1	0	1	1	0	0	0	0	0	8147	214	8	0	18	0	KCNV1	8	110980332	Frame_Shift_Ins	INS	-	TCGA-DQ-7595-01A-11D-2229-08	5819357	110980332	35383690	189	75863											
EPPK1	83481	broad.mit.edu	37	chr8	144940345	144940345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccggtaggccacgtcCacgggcacgcggtggctgtg	4	5	17	15	7	0	0	0	0	0	0	1	0	1	0	4	5	0	3	4	5	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:144940345C>T	ENST00000525985.1	-	2	7148	c.7077G>A	c.(7075-7077)gtG>gtA	p.V2359V				P58107	EPIPL_HUMAN	epiplakin 1	2359						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCACGTCCACGGGCACGC	0.692													26	518					0	0	0	0	T	144940345	C	T	144940345	2	4	395	1	0	0	0	0	0	0	0	1	5228	581	21	4		4	EPPK1	8	144940345	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	33960013	144940345	1423677	190	75864											
PLEC	5339	broad.mit.edu	37	chr8	144993365	144993365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctccgcccctttcagtgGcagaaggcgcaagcccgtct	6	9	10	16	3	3	1	1	0	2	1	4	1	3	1	4	2	1	2	4	2	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:144993365G>A	ENST00000322810.4	-	32	11204	c.11035C>T	c.(11035-11037)Cca>Tca	p.P3679S	PLEC_ENST00000354589.3_Missense_Mutation_p.P3542S|PLEC_ENST00000398774.2_Missense_Mutation_p.P3510S|PLEC_ENST00000356346.3_Missense_Mutation_p.P3528S|PLEC_ENST00000345136.3_Missense_Mutation_p.P3542S|PLEC_ENST00000436759.2_Missense_Mutation_p.P3569S|PLEC_ENST00000527096.1_Missense_Mutation_p.P3565S|PLEC_ENST00000357649.2_Missense_Mutation_p.P3546S|PLEC_ENST00000354958.2_Missense_Mutation_p.P3520S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3679	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTTCAGTGGCAGAAGGCGC	0.592													73	223					0	0	0	0	A	144993365	G	A	144993365	3	1	395	1	0	0	0	0	1	0	0	0	12124	1203	42	4	3023	4	PLEC	8	144993365	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	53020	144993365	1370657	191	75865											
PLEC	5339	broad.mit.edu	37	chr8	145001737	145001737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttgctcgagctcgcgCtgccgcacgtcggtctgggc	3	8	14	16	6	1	0	0	0	1	0	4	1	1	0	2	2	3	5	2	2	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:145001737C>A	ENST00000322810.4	-	27	4177	c.4008G>T	c.(4006-4008)caG>caT	p.Q1336H	PLEC_ENST00000354589.3_Missense_Mutation_p.Q1199H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q1167H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q1185H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q1199H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1226H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1222H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q1203H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q1177H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1336	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGAGCTCGCGCTGCCGCACGT	0.726													5	19					0.184627	0.185028	1	0	A	145001737	C	A	145001737	3	1	395	1	0	0	0	0	1	0	0	0	12124	796	28	4	10070	4	PLEC	8	145001737	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	8372	145001737	1362285	192	75866											
CDKN2A	1029	broad.mit.edu	37	chr9	21974780	21974780	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggccgcggccgtggccAgccagtcagccgaaggctcc	5	3	15	18	5	1	0	1	0	0	0	2	1	2	0	7	4	2	1	7	4	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:21974780A>C	ENST00000304494.5	-	1	317	c.47T>G	c.(46-48)cTg>cGg	p.L16R	CDKN2A_ENST00000446177.1_Missense_Mutation_p.L16R|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L16R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L16R|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.S7_A19del(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCCGTGGCCAGCCAGTCAGC	0.756		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	35					0	0	0	0	C	21974780	A	C	21974780	3	2	395	1	0	0	0	0	1	0	0	0	3190	188	7	5	636	5	CDKN2A	9	21974780	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08		21974780	119238651	193	75867											
LINGO2	158038	broad.mit.edu	37	chr9	27949577	27949577	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtcgctgcaagatccAgagaaggcggcagtcacagg	10	5	16	10	2	1	2	1	0	0	2	3	3	2	2	1	4	1	4	1	4	2	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:27949577A>C	ENST00000379992.2	-	6	1542	c.1093T>G	c.(1093-1095)Tgg>Ggg	p.W365G	LINGO2_ENST00000308675.3_Missense_Mutation_p.W365G	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	365	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCAAGATCCAGAGAAGGCGG	0.547													21	38					0	0	0	0	C	27949577	A	C	27949577	3	2	395	1	0	0	0	0	1	0	0	0	8870	188	7	5	731	5	LINGO2	9	27949577	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	5974797	27949577	113263854	194	75868											
PRKACG	5568	broad.mit.edu	37	chr9	71628059	71628059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggcctgtgtacttcGggatgaagggagcttccacc	7	8	13	13	1	0	1	0	1	0	0	2	3	1	3	5	3	2	2	5	3	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:71628059G>A	ENST00000377276.2	-	1	980	c.950C>T	c.(949-951)cCg>cTg	p.P317L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	317	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.P317Q(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTGTACTTCGGGATGAAGGG	0.532													35	95					0	0	0	0	A	71628059	G	A	71628059	3	1	395	1	0	0	0	0	1	0	0	0	12579	1116	39	1	109	1	PRKACG	9	71628059	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	43678482	71628059	69585372	195	75869											
RASEF	158158	broad.mit.edu	37	chr9	85611940	85611940	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttacctcaatcatatctAcccattctcgtatgttaaga	11	16	3	11	1	5	1	2	0	3	1	6	1	5	1	2	0	2	2	2	0	6	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:85611940A>C	ENST00000376447.3	-	14	2167	c.1907T>G	c.(1906-1908)gTa>gGa	p.V636G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	636					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AATCATATCTACCCATTCTCG	0.368													20	58					0	0	0	0	C	85611940	A	C	85611940	3	2	395	1	0	0	0	0	1	0	0	0	13150	391	14	5	331	5	RASEF	9	85611940	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	13983881	85611940	55601491	196	75870											
HIATL1	84641	broad.mit.edu	37	chr9	97218571	97218571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgtccagcatcacgtttCcggcaatcagtgccctcgtc	7	10	8	16	3	2	0	2	0	0	0	6	0	4	0	4	1	2	3	4	1	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:97218571C>A	ENST00000375344.3	+	10	1347	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	360					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CATCACGTTTCCGGCAATCAG	0.577													19	45					2.98393e-07	3.3542e-07	1	0	A	97218571	C	A	97218571	3	1	395	1	0	0	0	0	1	0	0	0	7148	855	30	2	1116	2	HIATL1	9	97218571	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	11606631	97218571	43994860	197	75871											
NTNG2	84628	broad.mit.edu	37	chr9	135073847	135073847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggacaacctctacacgcgGctggagagcgccaagggcct	10	5	13	13	3	1	1	0	0	1	1	1	3	1	2	3	4	3	1	3	4	3	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:135073847G>A	ENST00000393229.3	+	3	1484	c.708G>A	c.(706-708)cgG>cgA	p.R236R	NTNG2_ENST00000393228.4_Silent_p.R236R|NTNG2_ENST00000372179.3_Silent_p.R236R|NTNG2_ENST00000360670.3_Silent_p.R236R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	236	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCTACACGCGGCTGGAGAGCG	0.667													37	113					0	0	0	0	A	135073847	G	A	135073847	2	1	395	1	0	0	0	0	0	0	0	1	10776	1190	42	4		4	NTNG2	9	135073847	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	37855276	135073847	6139584	198	75872											
RXRA	6256	broad.mit.edu	37	chr9	137293688	137293688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccactccatgtcggtgcCcaccacacccaccctgggct	6	6	7	22	1	0	0	0	0	0	0	2	0	1	0	7	2	1	1	7	2	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:137293688C>A	ENST00000481739.1	+	2	291	c.239C>A	c.(238-240)cCc>cAc	p.P80H	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	80	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ATGTCGGTGCCCACCACACCC	0.687													20	71					7.88262e-20	1.10023e-19	1	0	A	137293688	C	A	137293688	3	1	395	1	0	0	0	0	1	0	0	0	13848	623	22	4	245	4	RXRA	9	137293688	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2219841	137293688	3919743	199	75873											
ANAPC2	29882	broad.mit.edu	37	chr9	140074693	140074693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgatatcctcggggacCtccagcttctcgtccttgaa	6	11	9	15	2	1	2	0	2	1	0	6	3	4	3	5	2	1	1	5	2	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:140074693C>G	ENST00000323927.2	-	10	1834	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	610					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCTCGGGGACCTCCAGCTTCT	0.612													18	50					0	0	0	0	G	140074693	C	G	140074693	3	3	395	1	0	0	0	0	1	0	0	0	603	680	24	4	654	4	ANAPC2	9	140074693	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2781005	140074693	1138738	200	75874											
EHMT1	79813	broad.mit.edu	37	chr9	140611227	140611228	+	Frame_Shift_Ins	INS	-	-	T																															cactcaggacagcgcaagggINStcaacccccaggatggcacc																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:140611227_140611228insT	ENST00000460843.1	+	3	262_263	c.235_236insT	c.(235-237)caafs	p.Q79fs	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Frame_Shift_Ins_p.Q48fs|EHMT1_ENST00000462484.1_Frame_Shift_Ins_p.Q79fs	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	79					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCGCAAGGGTCAACCCCCAG	0.554													26	99	---	---	---	---					T	140611228	-	T	140611227	7	5	395	1	0	1	1	0	0	0	0	0	5019	1261	44	0	245	0	EHMT1	9	140611227	Frame_Shift_Ins	INS	-	TCGA-DQ-7595-01A-11D-2229-08	536534	140611227	602204	201	75875											
PRKCQ	5588	broad.mit.edu	37	chr10	6540446	6540446	+	Frame_Shift_Del	DEL	C	C	-																															cttgacgtggtggacctttgCctgcttgatggcaccccggc																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:6540446delC	ENST00000263125.5	-	5	553	c.454delG	c.(454-456)cafs	p.A152fs	PRKCQ_ENST00000397176.2_Frame_Shift_Del_p.A152fs|PRKCQ_ENST00000539722.1_Frame_Shift_Del_p.A27fs	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	152					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGACCTTTGCCTGCTTGATG	0.512													26	71	---	---	---	---					-	6540446	C	-	6540446	7	5	395	1	0	1	0	1	0	0	0	0	12595	739	26	0	1722	0	PRKCQ	10	6540446	Frame_Shift_Del	DEL	C	TCGA-DQ-7595-01A-11D-2229-08		6540446	128994301	202	75876											
ITIH5	80760	broad.mit.edu	37	chr10	7683946	7683946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctggaactcaatgtcCtggtcttcagaagctctgtt	8	14	9	10	0	5	1	2	0	3	1	6	2	6	2	1	2	3	3	1	2	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:7683946C>T	ENST00000256861.6	-	3	321	c.243G>A	c.(241-243)caG>caA	p.Q81Q	ITIH5_ENST00000397146.2_Silent_p.Q81Q|ITIH5_ENST00000397145.2_Silent_p.Q81Q|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	81	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACTCAATGTCCTGGTCTTCAG	0.468													27	72					0	0	0	0	T	7683946	C	T	7683946	2	4	395	1	0	0	0	0	0	0	0	1	7960	680	24	4		4	ITIH5	10	7683946	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1143500	7683946	127850801	203	75877											
CUBN	8029	broad.mit.edu	37	chr10	17145223	17145223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttccatttattcctgagagGgactctccacaaactgcaaa	12	11	6	12	0	1	1	0	1	1	1	4	3	3	2	3	1	2	1	3	1	3	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:17145223G>A	ENST00000377833.4	-	13	1496	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	477	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCCTGAGAGGGACTCTCCAC	0.438													14	51					0	0	0	0	A	17145223	G	A	17145223	2	1	395	1	0	0	0	0	0	0	0	1	4083	1219	43	4		4	CUBN	10	17145223	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9461277	17145223	118389524	204	75878											
GPR158	57512	broad.mit.edu	37	chr10	25701259	25701259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcctaccttgcagggagGgctgccccttctgtgctgat	4	12	12	13	0	2	1	0	1	2	0	2	2	2	2	4	2	5	3	4	2	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:25701259G>T	ENST00000376351.3	+	4	1551	c.1192G>T	c.(1192-1194)Ggc>Tgc	p.G398C		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	398						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G398S(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						TTGCAGGGAGGGCTGCCCCTT	0.488													98	186					1.76565e-42	2.68333e-42	1	0	T	25701259	G	T	25701259	3	4	395	1	0	0	0	0	1	0	0	0	6712	1232	43	4	1206	4	GPR158	10	25701259	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	8556036	25701259	109833488	205	75879											
PARD3	56288	broad.mit.edu	37	chr10	34739281	34739281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccacttgcccaccattggGtgactggcactcagagacga	10	7	11	13	1	1	2	1	1	0	1	1	4	1	2	3	2	2	1	3	2	0	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:34739281G>A	ENST00000374789.3	-	5	1003	c.678C>T	c.(676-678)caC>caT	p.H226H	PARD3_ENST00000545693.1_Silent_p.H226H|PARD3_ENST00000346874.4_Silent_p.H226H|PARD3_ENST00000374773.1_Silent_p.H226H|PARD3_ENST00000374788.3_Silent_p.H226H|PARD3_ENST00000374776.1_Silent_p.H226H|PARD3_ENST00000350537.4_Silent_p.H226H|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000340077.5_Silent_p.H226H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	226					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCACCATTGGGTGACTGGCAC	0.463													28	51					0	0	0	0	A	34739281	G	A	34739281	2	1	395	1	0	0	0	0	0	0	0	1	11514	1252	44	4		4	PARD3	10	34739281	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9038022	34739281	100795466	206	75880											
ZNF239	8187	broad.mit.edu	37	chr10	44053168	44053168	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttgtccatcagacacCagtttaacttgaaggttctc	10	14	7	10	0	3	2	1	1	2	1	5	2	4	2	2	1	1	3	2	1	2	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:44053168C>A	ENST00000306006.6	-	2	1012	c.360G>T	c.(358-360)ctG>ctT	p.L120L	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000535642.1_Silent_p.L120L|ZNF239_ENST00000426961.1_Silent_p.L120L|ZNF239_ENST00000374446.2_Silent_p.L120L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATCAGACACCAGTTTAACTT	0.428													36	87					7.11191e-15	9.28164e-15	1	0	A	44053168	C	A	44053168	2	1	395	1	0	0	0	0	0	0	0	1	17886	581	21	4		4	ZNF239	10	44053168	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	9313887	44053168	91481579	207	75881											
TMEM72	643236	broad.mit.edu	37	chr10	45429211	45429211	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccggtcctggtctggcaCgtgaccatcccaggtaagag	8	7	12	14	2	1	2	0	1	1	1	3	2	3	2	4	4	0	2	4	4	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:45429211C>A	ENST00000544540.1	+	0	466				TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TGGTCTGGCACGTGACCATCC	0.607													14	29					7.93312e-07	8.8529e-07	1	0	A	45429211	C	A	45429211	1	1	395	1	0	0	0	0	0	0	0	0	16295	535	19	3		3	TMEM72	10	45429211	Translation_Start_Site	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1376043	45429211	90105536	208	75882											
ARID5B	84159	broad.mit.edu	37	chr10	63852352	63852352	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggaggtctctgggaagGagaaggcctctgagcaggag	11	5	17	8	0	2	2	0	1	2	1	3	6	2	5	2	6	1	1	2	6	3	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:63852352G>T	ENST00000279873.7	+	10	3540	c.3130G>T	c.(3130-3132)Gag>Tag	p.E1044*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.E801*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1044					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CTCTGGGAAGGAGAAGGCCTC	0.602													27	98					7.92952e-12	9.71735e-12	1	0	T	63852352	G	T	63852352	4	4	395	1	0	0	0	0	0	1	0	0	924	1175	41	2	3168	2	ARID5B	10	63852352	Nonsense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	18423141	63852352	71682395	209	75883											
RNLS	55328	broad.mit.edu	37	chr10	90122434	90122434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccagagcatatcgaGaggagtagctcacagcctcc	12	5	12	12	1	1	3	1	0	0	3	3	5	2	4	3	2	3	3	3	2	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:90122434G>T	ENST00000371947.3	-	5	1914	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	RNLS_ENST00000331772.4_Missense_Mutation_p.S192Y|RNLS_ENST00000437752.1_Missense_Mutation_p.S109Y|RNLS_ENST00000466945.1_5'UTR	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	192						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCATATCGAGAGGAGTAGCT	0.448													18	39					1.45105e-14	1.86737e-14	1	0	T	90122434	G	T	90122434	3	4	395	1	0	0	0	0	1	0	0	0	13590	942	33	2	541	2	RNLS	10	90122434	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	26270082	90122434	45412313	210	75884											
KIF11	3832	broad.mit.edu	37	chr10	94369264	94369264	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctgatgaatgcatactcTaggtaagaaagccatagtct	14	11	8	8	0	3	3	0	2	3	1	3	3	3	3	1	1	3	2	1	1	6	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:94369264T>C	ENST00000260731.3	+	6	786	c.696T>C	c.(694-696)tcT>tcC	p.S232S		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	232	Kinesin-motor.				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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCATACTCTAGGTAAGAAA	0.408													93	257					0	0	0	0	C	94369264	T	C	94369264	2	2	395	1	0	0	0	0	0	0	0	1	8323	1509	53	5		5	KIF11	10	94369264	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	4246830	94369264	41165483	211	75885											
LOXL4	84171	broad.mit.edu	37	chr10	100012156	100012156	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagctggccttgtgcccCtcagccaccttggagccatt	7	9	10	15	0	1	1	1	0	0	1	1	2	1	2	6	2	4	1	6	2	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:100012156C>T	ENST00000260702.3	-	12	2055	c.1905G>A	c.(1903-1905)gaG>gaA	p.E635E	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	635	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCTTGTGCCCCTCAGCCACCT	0.537													4	163					0	0	0	0	T	100012156	C	T	100012156	2	4	395	1	0	0	0	0	0	0	0	1	8966	680	24	4		4	LOXL4	10	100012156	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	5642892	100012156	35522591	212	75886											
VWA2	340706	broad.mit.edu	37	chr10	116049132	116049132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcgtgggcgtggggcCtgtcctaagtgagggtctgc	3	11	18	9	2	1	1	0	1	1	0	3	1	2	1	2	5	1	0	2	5	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:116049132C>A	ENST00000603594.1	+	12	2327	c.2006C>A	c.(2005-2007)cCt>cAt	p.P669H	VWA2_ENST00000392982.3_Missense_Mutation_p.P669H	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	669	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GGCGTGGGGCCTGTCCTAAGT	0.632													21	51					1.28384e-07	1.45376e-07	1	0	A	116049132	C	A	116049132	3	1	395	1	0	0	0	0	1	0	0	0	17335	681	24	4	2048	4	VWA2	10	116049132	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	16036976	116049132	19485615	213	75887											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396278	+	RNA	INS	-	-	T																															tgactaacagacaaattatgINSgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													4	4	---	---	---	---					T	118396278	-	T	118396277	6	5	395	0	1	1	1	0	0	0	0	0	12223	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-DQ-7595-01A-11D-2229-08	2347145	118396277	17138470	214	75888											
KCNK18	338567	broad.mit.edu	37	chr10	118960766	118960766	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccttcctgagctcgcTctttttctgctgcacggtgt	2	16	10	13	2	2	1	0	1	2	0	5	1	4	1	2	2	3	4	2	2	0	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:118960766T>A	ENST00000334549.1	+	2	320	c.320T>A	c.(319-321)cTc>cAc	p.L107H		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	107						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTGAGCTCGCTCTTTTTCTGC	0.567													39	104					0	0	0	0	A	118960766	T	A	118960766	3	1	395	1	0	0	0	0	1	0	0	0	8118	1551	54	5	326	5	KCNK18	10	118960766	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	564489	118960766	16573981	215	75889											
EBF3	253738	broad.mit.edu	37	chr10	131666137	131666137	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggcaccccccgtggtcCagccttcactgggactgatg	5	8	13	15	2	1	1	1	1	0	0	2	2	2	2	5	4	1	1	5	4	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:131666137C>T	ENST00000368648.3	-	9	866	c.794G>A	c.(793-795)tGg>tAg	p.W265*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.W274*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	274	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			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)		CCCCGTGGTCCAGCCTTCACT	0.587													24	65					0	0	0	0	T	131666137	C	T	131666137	4	4	395	1	0	0	0	0	0	1	0	0	4918	595	21	4	893	4	EBF3	10	131666137	Nonsense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	12705371	131666137	3868610	216	75890											
OR52N2	390077	broad.mit.edu	37	chr11	5842439	5842439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgcctcctaccatgaacCcaattgtttatggagtcaag	11	12	7	11	0	1	1	1	1	0	0	2	2	2	2	4	1	4	1	4	1	6	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:5842439C>A	ENST00000317037.2	+	1	896	c.874C>A	c.(874-876)Cca>Aca	p.P292T	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCATGAACCCAATTGTTTA	0.378													36	84					9.17885e-22	1.30481e-21	1	0	A	5842439	C	A	5842439	3	1	395	1	0	0	0	0	1	0	0	0	11199	623	22	4	876	4	OR52N2	11	5842439	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		5842439	129164077	217	75891											
OR52L1	338751	broad.mit.edu	37	chr11	6007720	6007720	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggattgtggaatggtgcaaGgggtgacaaatggctacata	13	9	15	4	0	0	1	0	1	0	0	0	3	0	3	0	6	2	2	0	6	5	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:6007720G>T	ENST00000332249.4	-	1	495	c.441C>A	c.(439-441)ccC>ccA	p.P147P		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGTGCAAGGGGTGACAAA	0.517													17	23					1.67942e-08	1.94947e-08	1	0	T	6007720	G	T	6007720	2	4	395	1	0	0	0	0	0	0	0	1	11196	987	35	4		4	OR52L1	11	6007720	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	165281	6007720	128998796	218	75892											
CCKBR	887	broad.mit.edu	37	chr11	6290966	6290966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagcgttggaggaaatatGctcatcatcgtggtcctggg	9	11	14	7	2	2	1	2	1	0	0	4	3	3	3	1	4	2	2	1	4	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:6290966G>A	ENST00000525462.1	+	2	222	c.219G>A	c.(217-219)atG>atA	p.M73I	CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000334619.2_Missense_Mutation_p.M73I|CCKBR_ENST00000525014.1_Missense_Mutation_p.M73I			P32239	GASR_HUMAN	cholecystokinin B receptor	73					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			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)	GAGGAAATATGCTCATCATCG	0.552													40	80					0	0	0	0	A	6290966	G	A	6290966	3	1	395	1	0	0	0	0	1	0	0	0	2908	1319	46	4	225	4	CCKBR	11	6290966	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	283246	6290966	128715550	219	75893											
DCHS1	8642	broad.mit.edu	37	chr11	6651019	6651019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcgtcgttgacgtcaGcgacactgacggtcaggacc	7	7	13	14	6	2	2	2	2	0	0	4	4	2	3	2	2	1	1	2	2	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:6651019G>T	ENST00000299441.3	-	11	5330	c.4919C>A	c.(4918-4920)gCt>gAt	p.A1640D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1640	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGACGTCAGCGACACTGAC	0.632													21	34					2.37509e-13	3.01454e-13	1	0	T	6651019	G	T	6651019	3	4	395	1	0	0	0	0	1	0	0	0	4319	971	34	4	5021	4	DCHS1	11	6651019	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	360053	6651019	128355497	220	75894											
INSC	387755	broad.mit.edu	37	chr11	15134052	15134052	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggagaggcggccagcGaaggtccaggtggctggggt	8	5	20	8	2	0	1	0	0	0	1	1	3	1	1	2	8	1	2	2	8	2	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:15134052G>T	ENST00000379554.3	+	1	83	c.37G>T	c.(37-39)Gaa>Taa	p.E13*		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	13					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCGGCCAGCGAAGGTCCAGG	0.602													19	47					5.3912e-06	5.87438e-06	1	0	T	15134052	G	T	15134052	4	4	395	1	0	0	0	0	0	1	0	0	7817	1059	37	3	39	3	INSC	11	15134052	Nonsense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	8483033	15134052	119872464	221	75895											
KCNA4	3739	broad.mit.edu	37	chr11	30032839	30032839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccaggatctgcaggcCtttggagtgcctggagagtt	6	10	16	9	0	1	1	0	0	1	1	1	4	1	3	3	5	2	2	3	5	0	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:30032839C>A	ENST00000328224.6	-	2	2620	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	463						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			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						ATCTGCAGGCCTTTGGAGTGC	0.542													28	70					1.2476e-16	1.67555e-16	1	0	A	30032839	C	A	30032839	3	1	395	1	0	0	0	0	1	0	0	0	8058	681	24	4	578	4	KCNA4	11	30032839	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	14898787	30032839	104973677	222	75896											
OR5D18	219438	broad.mit.edu	37	chr11	55587449	55587449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggtcactgaatccttttTattagctgtgatggcctatg	7	17	10	7	0	1	2	1	2	0	0	2	2	2	2	2	2	1	1	2	2	4	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:55587449T>C	ENST00000333976.4	+	1	364	c.344T>C	c.(343-345)tTa>tCa	p.L115S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				GAATCCTTTTTATTAGCTGTG	0.438													59	158					0	0	0	0	C	55587449	T	C	55587449	3	2	395	1	0	0	0	0	1	0	0	0	11228	1764	61	5	346	5	OR5D18	11	55587449	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	25554610	55587449	79419067	223	75897											
OR10AG1	282770	broad.mit.edu	37	chr11	55735761	55735761	+	Frame_Shift_Del	DEL	A	A	-																															ttgttacataacagatttccAaaagggaaaaattgctaaga																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:55735761delA	ENST00000312345.2	-	1	229	c.179delT	c.(178-180)tgfs	p.L60fs		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACAGATTTCCAAAAGGGAAAA	0.353													28	79	---	---	---	---					-	55735761	A	-	55735761	7	5	395	1	0	1	0	1	0	0	0	0	10968	131	5	0	729	0	OR10AG1	11	55735761	Frame_Shift_Del	DEL	A	TCGA-DQ-7595-01A-11D-2229-08	148312	55735761	79270755	224	75898											
OR4D11	219986	broad.mit.edu	37	chr11	59271673	59271673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatggcctggtcactaccCtgtggtttatcttcctgctt	6	15	8	12	0	2	0	1	0	1	0	3	0	3	0	3	3	2	2	3	3	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:59271673C>A	ENST00000313253.1	+	1	625	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTCACTACCCTGTGGTTTAT	0.512													64	131					1.80625e-27	2.61595e-27	1	0	A	59271673	C	A	59271673	3	1	395	1	0	0	0	0	1	0	0	0	11126	680	24	4	627	4	OR4D11	11	59271673	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3535912	59271673	75734843	225	75899											
NRXN2	9379	broad.mit.edu	37	chr11	64421183	64421183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgggtgcgcagccgaCgcgcaggcagtctggggggg	5	6	19	11	4	1	0	0	0	1	0	1	1	1	0	1	5	3	3	1	5	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:64421183C>A	ENST00000265459.6	-	12	2862	c.2401G>T	c.(2401-2403)Gtc>Ttc	p.V801F	NRXN2_ENST00000377551.1_Missense_Mutation_p.V801F|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Missense_Mutation_p.V794F	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	801	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCGCAGCCGACGCGCAGGCAG	0.577													6	9					0.0381472	0.0386492	1	0	A	64421183	C	A	64421183	3	1	395	1	0	0	0	0	1	0	0	0	10737	536	19	3	3054	3	NRXN2	11	64421183	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	5149510	64421183	70585333	226	75900											
RASGRP2	10235	broad.mit.edu	37	chr11	64502700	64502700	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttccggaacacagaCtggggcacgcagagggacac	13	4	13	11	2	1	2	1	0	0	2	2	4	2	4	1	4	1	3	1	4	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:64502700C>T	ENST00000377494.1	-	11	2219		c.e11-1		RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGAACACAGACTGGGGCACGC	0.567													16	41					0	0	0	0	T	64502700	C	T	64502700	5	4	395	1	0	0	0	0	0	0	1	0	13157	579	20	4	553	4	RASGRP2	11	64502700	Splice_Site	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	81517	64502700	70503816	227	75901											
LRTOMT	220074	broad.mit.edu	37	chr11	71804597	71804597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaagcgttcaaagtcGgggaaatcactgacccagtc	12	7	10	12	2	2	2	2	2	0	0	4	3	2	3	2	2	1	1	2	2	3	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:71804597G>A	ENST00000324866.7	+	4	304	c.138G>A	c.(136-138)tcG>tcA	p.S46S	LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000439209.1_Silent_p.S46S|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000538478.1_Silent_p.S46S|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000541614.1_Silent_p.S46S|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000289488.2_Silent_p.S46S|LRTOMT_ENST00000423494.2_Silent_p.S28S|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000447974.1_Silent_p.S46S|LRTOMT_ENST00000536917.1_Silent_p.S46S|LRTOMT_ENST00000307198.7_5'UTR	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	46						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						GTTCAAAGTCGGGGAAATCAC	0.488													17	26					0	0	0	0	A	71804597	G	A	71804597	2	1	395	1	0	0	0	0	0	0	0	1	9110	1103	39	1		1	LRTOMT	11	71804597	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	7301897	71804597	63201919	228	75902											
P2RY6	5031	broad.mit.edu	37	chr11	73008014	73008014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctagtgtgtgtagccGtgtggctggccgtgacaacc	5	10	15	11	2	0	1	0	1	0	0	0	1	0	1	4	3	2	3	4	3	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:73008014G>A	ENST00000393590.2	+	2	750	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	P2RY6_ENST00000393592.2_Missense_Mutation_p.V151M|P2RY6_ENST00000540342.1_Missense_Mutation_p.V151M|P2RY6_ENST00000393591.1_Missense_Mutation_p.V151M|P2RY6_ENST00000540124.1_Missense_Mutation_p.V151M|P2RY6_ENST00000538328.1_Missense_Mutation_p.V151M|P2RY6_ENST00000542092.1_Missense_Mutation_p.V151M|P2RY6_ENST00000349767.2_Missense_Mutation_p.V151M	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	151					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GTGTGTAGCCGTGTGGCTGGC	0.667													27	70					0	0	0	0	A	73008014	G	A	73008014	3	1	395	1	0	0	0	0	1	0	0	0	11425	1145	40	1	453	1	P2RY6	11	73008014	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1203417	73008014	61998502	229	75903											
ANKRD49	54851	broad.mit.edu	37	chr11	94231288	94231288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggccactcacgtgaacactAgggatgaagatgagtatacc	14	7	11	9	1	1	4	1	3	0	1	1	5	1	5	2	2	2	1	2	2	5	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:94231288A>G	ENST00000544612.1	+	3	807	c.310A>G	c.(310-312)Agg>Ggg	p.R104G	ANKRD49_ENST00000302755.4_Missense_Mutation_p.R104G|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	104					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGTGAACACTAGGGATGAAGA	0.448													22	48					0	0	0	0	G	94231288	A	G	94231288	3	3	395	1	0	0	0	0	1	0	0	0	674	411	15	5	316	5	ANKRD49	11	94231288	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	21223274	94231288	40775228	230	75904											
PGR	5241	broad.mit.edu	37	chr11	100920717	100920717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcttggctaacttgaaGcttgacaaactcctgtggga	9	13	9	10	0	2	2	0	2	2	0	3	3	3	3	1	2	3	2	1	2	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:100920717G>T	ENST00000325455.5	-	6	3884	c.2431C>A	c.(2431-2433)Ctt>Att	p.L811I	PGR_ENST00000534013.1_Missense_Mutation_p.L217I|PGR_ENST00000263463.5_Missense_Mutation_p.L709I	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	811	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTAACTTGAAGCTTGACAAAC	0.368													11	23					0.0809354	0.0818209	1	0	T	100920717	G	T	100920717	3	4	395	1	0	0	0	0	1	0	0	0	11877	971	34	4	382	4	PGR	11	100920717	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	6689429	100920717	34085799	231	75905											
NPAT	4863	broad.mit.edu	37	chr11	108057265	108057265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtattgttgaatgagggcCagacaaagtggtactttttc	10	13	11	7	1	0	3	0	2	0	1	1	3	0	3	2	2	1	3	2	2	4	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:108057265C>T	ENST00000278612.8	-	8	775	c.670G>A	c.(670-672)Ggc>Agc	p.G224S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	224	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.G224S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GAATGAGGGCCAGACAAAGTG	0.323													12	48					0	0	0	0	T	108057265	C	T	108057265	3	4	395	1	0	0	0	0	1	0	0	0	10636	594	21	4	3657	4	NPAT	11	108057265	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	7136548	108057265	26949251	232	75906											
LAYN	143903	broad.mit.edu	37	chr11	111428319	111428319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcattccccttctcctcCtccttgtggtcaccacagtt	5	13	5	18	0	2	0	1	0	1	0	6	0	5	0	7	1	1	2	7	1	0	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:111428319C>T	ENST00000436913.2	+	5	678	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	LAYN_ENST00000533265.1_Missense_Mutation_p.L238F|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Missense_Mutation_p.L246F|LAYN_ENST00000375614.2_Missense_Mutation_p.L238F|LAYN_ENST00000375615.3_Missense_Mutation_p.L246F	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	246	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CCTTCTCCTCCTCCTTGTGGT	0.428													170	510					0	0	0	0	T	111428319	C	T	111428319	3	4	395	1	0	0	0	0	1	0	0	0	8702	681	24	4	734	4	LAYN	11	111428319	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3371054	111428319	23578197	233	75907											
HINFP	25988	broad.mit.edu	37	chr11	119001570	119001570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggccttgcaaagccAggctgaccttggcccctgca	7	7	12	15	0	0	1	0	1	0	0	0	1	0	1	5	3	4	5	5	3	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:119001570A>T	ENST00000350777.2	+	3	380	c.317A>T	c.(316-318)cAg>cTg	p.Q106L	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.Q106L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	106					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTGCAAAGCCAGGCTGACCTT	0.567													36	87					0	0	0	0	T	119001570	A	T	119001570	3	4	395	1	0	0	0	0	1	0	0	0	7160	188	7	5	323	5	HINFP	11	119001570	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	7573251	119001570	16004946	234	75908											
ZNF202	7753	broad.mit.edu	37	chr11	123598283	123598283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaacctgggagatctcatCaggtctggggattggaaatg	10	11	13	7	0	4	1	2	0	3	1	5	4	4	3	1	5	1	0	1	5	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:123598283C>A	ENST00000336139.4	-	7	1215	c.853G>T	c.(853-855)Gat>Tat	p.D285Y	ZNF202_ENST00000529691.1_Missense_Mutation_p.D285Y|ZNF202_ENST00000530393.1_Missense_Mutation_p.D285Y			O95125	ZN202_HUMAN	zinc finger protein 202	285	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GAGATCTCATCAGGTCTGGGG	0.473													20	46					7.41877e-09	8.69917e-09	1	0	A	123598283	C	A	123598283	3	1	395	1	0	0	0	0	1	0	0	0	17858	826	29	2	1101	2	ZNF202	11	123598283	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	4596713	123598283	11408233	235	75909											
TMEM225	338661	broad.mit.edu	37	chr11	123756006	123756006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgtggttcatcttggCtctttcatcttctgaaatca	8	16	8	9	0	7	1	3	1	4	0	7	2	7	2	0	3	0	2	0	3	1	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:123756006C>T	ENST00000375026.2	-	1	343	c.127G>A	c.(127-129)Gcc>Acc	p.A43T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	43						integral to membrane		p.A43T(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTCATCTTGGCTCTTTCATCT	0.463													30	69					0	0	0	0	T	123756006	C	T	123756006	3	4	395	1	0	0	0	0	1	0	0	0	16241	797	28	4	566	4	TMEM225	11	123756006	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	157723	123756006	11250510	236	75910											
OR10G8	219869	broad.mit.edu	37	chr11	123900458	123900458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctggggaacctcctcatCctgctggtgatcagggtgga	6	10	15	10	0	2	1	2	1	0	0	4	3	4	3	3	5	3	2	3	5	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:123900458C>T	ENST00000431524.1	+	1	162	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACCTCCTCATCCTGCTGGTGA	0.572													44	112					0	0	0	0	T	123900458	C	T	123900458	2	4	395	1	0	0	0	0	0	0	0	1	10974	845	30	2		2	OR10G8	11	123900458	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	144452	123900458	11106058	237	75911											
SIAE	54414	broad.mit.edu	37	chr11	124524633	124524633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaatgggagagacagagagGatgcggacagactgatatgc	14	6	16	5	1	0	5	0	2	0	3	0	10	0	8	0	3	2	0	0	3	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:124524633G>A	ENST00000263593.3	-	4	634	c.462C>T	c.(460-462)atC>atT	p.I154I	SIAE_ENST00000545756.1_Silent_p.I119I			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	154						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		AGACAGAGAGGATGCGGACAG	0.483													38	96					0	0	0	0	A	124524633	G	A	124524633	2	1	395	1	0	0	0	0	0	0	0	1	14386	1164	41	2		2	SIAE	11	124524633	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	624175	124524633	10481883	238	75912											
OPCML	4978	broad.mit.edu	37	chr11	132307219	132307219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgatgtcagagatctcCaggtactcatcctcacttac	9	12	7	13	1	4	2	3	1	1	1	6	3	5	2	2	1	2	2	2	1	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:132307219C>T	ENST00000331898.7	-	4	1139	c.561G>A	c.(559-561)ctG>ctA	p.L187L	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.L187L|OPCML_ENST00000374778.4_Silent_p.L146L|OPCML_ENST00000524381.1_Silent_p.L180L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	187	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGAGATCTCCAGGTACTCAT	0.498													11	34					0	0	0	0	T	132307219	C	T	132307219	2	4	395	1	0	0	0	0	0	0	0	1	10945	581	21	4		4	OPCML	11	132307219	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	7782586	132307219	2699297	239	75913											
KCNA1	3736	broad.mit.edu	37	chr12	5020791	5020791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggaacgagtacttcttcGaccgcaaccggcccagcttc	9	8	10	14	4	1	1	0	1	1	0	3	4	1	2	3	2	4	3	3	2	3	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:5020791G>A	ENST00000382545.3	+	2	1354	c.247G>A	c.(247-249)Gac>Aac	p.D83N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	83					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTACTTCTTCGACCGCAACCG	0.632													39	78					0	0	0	0	A	5020791	G	A	5020791	3	1	395	1	0	0	0	0	1	0	0	0	8054	1058	37	1	249	1	KCNA1	12	5020791	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08		5020791	128831104	240	75914											
GUCY2C	2984	broad.mit.edu	37	chr12	14772149	14772149	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtctcccttcttacggagGccagtggattccatcctaga	8	11	9	13	1	2	1	0	0	2	1	5	3	4	3	4	3	1	0	4	3	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:14772149G>T	ENST00000261170.3	-	24	3007	c.2871C>A	c.(2869-2871)ggC>ggA	p.G957G	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	957					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTTACGGAGGCCAGTGGATT	0.463													20	57					1.00905e-13	1.28424e-13	1	0	T	14772149	G	T	14772149	2	4	395	1	0	0	0	0	0	0	0	1	6946	1190	42	4		4	GUCY2C	12	14772149	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9751358	14772149	119079746	241	75915											
MGP	4256	broad.mit.edu	37	chr12	15035941	15035941	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctctccatctctgctgaggGgatatgaaggtatttgcatt	8	14	11	8	0	2	2	0	2	2	0	4	3	2	3	1	3	2	4	1	3	3	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:15035941G>T	ENST00000539261.1	-	3	269	c.135C>A	c.(133-135)tcC>tcA	p.S45S	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.S70S	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	45					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TCTGCTGAGGGGATATGAAGG	0.393													10	39					6.42651e-13	8.09005e-13	1	0	T	15035941	G	T	15035941	2	4	395	1	0	0	0	0	0	0	0	1	9627	1219	43	4		4	MGP	12	15035941	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	263792	15035941	118815954	242	75916											
PIK3C2G	5288	broad.mit.edu	37	chr12	18793370	18793370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctttgcagcatctccCagatggctctgcgcccagtg	5	13	9	14	1	2	1	0	0	2	1	4	1	3	1	3	1	3	3	3	1	0	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:18793370C>T	ENST00000433979.1	+	31	4183	c.4067C>T	c.(4066-4068)cCa>cTa	p.P1356L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P1397L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P1356L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1356	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCATCTCCCAGATGGCTCT	0.388													5	13					0	0	0	0	T	18793370	C	T	18793370	3	4	395	1	0	0	0	0	1	0	0	0	11983	594	21	4	4185	4	PIK3C2G	12	18793370	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3757429	18793370	115058525	243	75917											
NCKAP5L	57701	broad.mit.edu	37	chr12	50186687	50186687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcttaggaagattcttGctgggggtcccactgctacc	6	13	12	10	0	2	1	0	0	2	1	3	2	3	2	2	4	3	2	2	4	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:50186687G>A	ENST00000335999.6	-	11	3624	c.3423C>T	c.(3421-3423)agC>agT	p.S1141S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1137	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GAAGATTCTTGCTGGGGGTCC	0.662													7	11					0	0	0	0	A	50186687	G	A	50186687	2	1	395	1	0	0	0	0	0	0	0	1	10294	1310	46	4		4	NCKAP5L	12	50186687	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	31393317	50186687	83665208	244	75918											
LIMA1	51474	broad.mit.edu	37	chr12	50599845	50599845	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacttcggctttgggcccGgagaatctggaaaacgaaac	11	8	12	10	3	1	1	0	0	1	1	2	4	1	2	1	4	3	2	1	4	4	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:50599845G>C	ENST00000341247.4	-	5	786	c.637C>G	c.(637-639)Cgg>Ggg	p.R213G	LIMA1_ENST00000552823.1_Missense_Mutation_p.R53G|LIMA1_ENST00000394943.3_Missense_Mutation_p.R213G|LIMA1_ENST00000552909.1_Missense_Mutation_p.R53G|LIMA1_ENST00000552783.1_Missense_Mutation_p.R53G|LIMA1_ENST00000552008.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	213					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTTTGGGCCCGGAGAATCTGG	0.428													10	37					0	0	0	0	C	50599845	G	C	50599845	3	2	395	1	0	0	0	0	1	0	0	0	8850	1115	39	3	1673	3	LIMA1	12	50599845	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	413158	50599845	83252050	245	75919											
KRT76	51350	broad.mit.edu	37	chr12	53171043	53171043	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccctggctcctgccActgaaggatttcttgcaaac	11	9	9	12	0	1	2	0	1	1	1	2	4	2	3	3	2	4	2	3	2	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:53171043A>G	ENST00000332411.2	-	1	86	c.33T>C	c.(31-33)agT>agC	p.S11S		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	11	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTCCTGCCACTGAAGGATT	0.577													23	66					0	0	0	0	G	53171043	A	G	53171043	2	3	395	1	0	0	0	0	0	0	0	1	8541	156	6	5		5	KRT76	12	53171043	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	2571198	53171043	80680852	246	75920											
SLC39A5	283375	broad.mit.edu	37	chr12	56625236	56625236	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcagggggcttggcgCggcttctccacagcctgggg	4	8	17	12	2	1	1	0	1	1	0	2	1	1	1	2	6	2	3	2	6	0	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:56625236C>A	ENST00000266980.4	+	2	471	c.178C>A	c.(178-180)Cgg>Agg	p.R60R	SLC39A5_ENST00000454355.2_Silent_p.R60R	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	60					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCTTGGCGCGGCTTCTCCA	0.652													45	91					1.15505e-17	1.56951e-17	1	0	A	56625236	C	A	56625236	2	1	395	1	0	0	0	0	0	0	0	1	14709	759	27	3		3	SLC39A5	12	56625236	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3454193	56625236	77226659	247	75921											
STAT2	6773	broad.mit.edu	37	chr12	56743181	56743181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcttccaaagctgctttCtctctccttgccctccattt	4	17	3	17	0	3	0	0	0	3	0	7	0	5	0	5	0	3	2	5	0	1	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:56743181C>T	ENST00000418572.2	-	15	1433	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	STAT2_ENST00000314128.4_Intron|STAT2_ENST00000556539.1_Intron|STAT2_ENST00000557235.1_Intron			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	0					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AAGCTGCTTTCTCTCTCCTTG	0.473													58	171					0	0	0	0	T	56743181	C	T	56743181	3	4	395	1	0	0	0	0	1	0	0	0	15355	928	32	2		2	STAT2	12	56743181	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	117945	56743181	77108714	248	75922											
RDH16	8608	broad.mit.edu	37	chr12	57348845	57348845	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcacatcaatcaccccCaacaagttcacgtccagtat	14	8	5	14	1	4	1	4	0	0	1	5	1	5	1	3	0	1	2	3	0	4	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:57348845C>T	ENST00000398138.3	-	2	1273	c.417G>A	c.(415-417)ttG>ttA	p.L139L	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	139					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CAATCACCCCCAACAAGTTCA	0.572													20	66					0	0	0	0	T	57348845	C	T	57348845	2	4	395	1	0	0	0	0	0	0	0	1	13276	593	21	4		4	RDH16	12	57348845	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	605664	57348845	76503050	249	75923											
PTPRR	5801	broad.mit.edu	37	chr12	71155305	71155305	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactttgatgcaaaacattGatattaagtgaacgaagaac	19	10	7	5	1	0	4	0	3	0	1	0	5	0	4	0	0	5	1	0	0	8	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:71155305G>T	ENST00000283228.2	-	4	1025	c.573C>A	c.(571-573)atC>atA	p.I191I	PTPRR_ENST00000342084.4_Silent_p.I79I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	191					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCAAAACATTGATATTAAGTG	0.368													40	106					5.04308e-16	6.75334e-16	1	0	T	71155305	G	T	71155305	2	4	395	1	0	0	0	0	0	0	0	1	12892	1280	45	2		2	PTPRR	12	71155305	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	13806460	71155305	62696590	250	75924											
TRHDE	29953	broad.mit.edu	37	chr12	72893318	72893318	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgttctgcatgaagtgaTgctgctggacggtttggcca	7	12	14	8	2	1	2	0	2	1	0	1	4	1	3	1	3	3	5	1	3	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:72893318T>A	ENST00000261180.4	+	6	1586	c.1490T>A	c.(1489-1491)aTg>aAg	p.M497K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	497					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGAAGTGATGCTGCTGGAC	0.453													22	57					0	0	0	0	A	72893318	T	A	72893318	3	1	395	1	0	0	0	0	1	0	0	0	16574	1464	51	5	1512	5	TRHDE	12	72893318	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	1738013	72893318	60958577	251	75925											
EPYC	1833	broad.mit.edu	37	chr12	91358040	91358040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcctctagtgccttacGaatataagtcaaatttttaa	14	15	5	7	1	2	0	1	0	1	0	3	1	3	0	2	0	2	0	2	0	8	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:91358040G>T	ENST00000261172.3	-	7	954	c.862C>A	c.(862-864)Cgt>Agt	p.R288S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	288					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R288C(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGTGCCTTACGAATATAAGTC	0.363													31	41					2.61193e-14	3.35198e-14	1	0	T	91358040	G	T	91358040	3	4	395	1	0	0	0	0	1	0	0	0	5239	1058	37	3	110	3	EPYC	12	91358040	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	18464722	91358040	42493855	252	75926											
SLC17A8	246213	broad.mit.edu	37	chr12	100796512	100796512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagaggtctttggatttGcaataagtaaggtaaacaca	15	12	10	4	0	1	2	0	1	1	1	1	3	1	3	0	3	2	3	0	3	6	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:100796512G>C	ENST00000323346.5	+	8	1355	c.1042G>C	c.(1042-1044)Gca>Cca	p.A348P	SLC17A8_ENST00000392989.3_Intron	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	348					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CTTTGGATTTGCAATAAGTAA	0.333													8	29					0	0	0	0	C	100796512	G	C	100796512	3	2	395	1	0	0	0	0	1	0	0	0	14511	1319	46	4	1072	4	SLC17A8	12	100796512	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	9438472	100796512	33055383	253	75927											
C12orf42	374470	broad.mit.edu	37	chr12	103762736	103762736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgtgattaatgaatCtggagcagggtactgaagtt	11	14	11	5	0	3	3	1	3	2	0	3	4	3	4	0	2	2	3	0	2	4	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:103762736C>A	ENST00000378113.2	-	4	413	c.188G>T	c.(187-189)aGa>aTa	p.R63I	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.R63I|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.R63I	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	63										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATTAATGAATCTGGAGCAGGG	0.348													3	6					0.115264	0.116017	1	0	A	103762736	C	A	103762736	3	1	395	1	0	0	0	0	1	0	0	0	1700	913	32	2	906	2	C12orf42	12	103762736	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2966224	103762736	30089159	254	75928											
CORO1C	23603	broad.mit.edu	37	chr12	109042422	109042422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggggatgctgatcaGgtcgcacttcttgtttgcag	5	16	12	8	1	3	1	1	1	2	0	4	2	3	2	0	3	2	4	0	3	0	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:109042422G>A	ENST00000261401.3	-	10	1436	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000541050.1_Silent_p.L422L|CORO1C_ENST00000549772.1_Silent_p.L428L|CORO1C_ENST00000421578.2_Silent_p.L317L|CORO1C_ENST00000420959.2_Silent_p.L475L	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	422					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ATGCTGATCAGGTCGCACTTC	0.522													19	84					0	0	0	0	A	109042422	G	A	109042422	2	1	395	1	0	0	0	0	0	0	0	1	3785	991	35	4		4	CORO1C	12	109042422	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	5279686	109042422	24809473	255	75929											
USP30	84749	broad.mit.edu	37	chr12	109495876	109495876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaggagcccccctcacaCcagtatttatccttaacact	12	9	5	15	0	1	1	1	0	0	1	2	2	2	2	5	1	2	1	5	1	4	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:109495876C>G	ENST00000257548.5	+	3	432	c.339C>G	c.(337-339)caC>caG	p.H113Q	USP30_ENST00000392784.2_Missense_Mutation_p.H82Q	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	113					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCCCCTCACACCAGTATTTAT	0.483													64	212					0	0	0	0	G	109495876	C	G	109495876	3	3	395	1	0	0	0	0	1	0	0	0	17157	506	18	4	349	4	USP30	12	109495876	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	453454	109495876	24356019	256	75930											
OAS3	4940	broad.mit.edu	37	chr12	113384761	113384761	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctgcagttgggcagttcTtgcagcggcagcttaagaga	9	9	13	10	1	1	1	0	0	1	1	1	2	1	1	1	2	4	7	1	2	1	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:113384761T>C	ENST00000228928.7	+	4	1029	c.850T>C	c.(850-852)Ttg>Ctg	p.L284L	OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	284	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGGCAGTTCTTGCAGCGGCA	0.557													12	22					0	0	0	0	C	113384761	T	C	113384761	2	2	395	1	0	0	0	0	0	0	0	1	10872	1606	56	5		5	OAS3	12	113384761	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	3888885	113384761	20467134	257	75931											
DIABLO	56616	broad.mit.edu	37	chr12	122692938	122692938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggccctcaatcctcaCgcaggtaggcctcctgctcc	6	8	9	18	1	3	0	3	0	0	0	6	0	6	0	5	3	1	4	5	3	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:122692938C>A	ENST00000464942.2	-	5	1944	c.551G>T	c.(550-552)cGt>cTt	p.R184L	B3GNT4_ENST00000545141.1_Intron|DIABLO_ENST00000267169.6_Missense_Mutation_p.R184L|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000353548.6_Missense_Mutation_p.R193L|DIABLO_ENST00000443649.3_Missense_Mutation_p.R237L|DIABLO_ENST00000413918.1_Missense_Mutation_p.R193L|RP11-512M8.5_ENST00000535844.1_3'UTR	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	237					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCAATCCTCACGCAGGTAGGC	0.607													20	56					1.00905e-13	1.28424e-13	1	0	A	122692938	C	A	122692938	3	1	395	1	0	0	0	0	1	0	0	0	4554	536	19	3	13	3	DIABLO	12	122692938	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	9308177	122692938	11158957	258	75932											
GLT1D1	144423	broad.mit.edu	37	chr12	129442151	129442151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggaatgctgccgtggtgaAgcatgaagtcacagggctac	10	7	15	9	2	1	2	1	2	0	0	1	3	1	3	1	3	4	3	1	3	4	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:129442151A>G	ENST00000442111.2	+	11	930	c.842A>G	c.(841-843)aAg>aGg	p.K281R	GLT1D1_ENST00000281703.6_Missense_Mutation_p.K201R|GLT1D1_ENST00000537468.1_Missense_Mutation_p.K286R|GLT1D1_ENST00000542193.1_Missense_Mutation_p.K198R			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	281					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCCGTGGTGAAGCATGAAGTC	0.468													12	25					0	0	0	0	G	129442151	A	G	129442151	3	3	395	1	0	0	0	0	1	0	0	0	6516	72	3	5	628	5	GLT1D1	12	129442151	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	6749213	129442151	4409744	259	75933											
TMEM132D	121256	broad.mit.edu	37	chr12	129559166	129559166	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgtcgtggtgccccgtcCctccatgagtcccatagaag	6	10	11	14	2	1	2	0	1	1	1	5	2	4	2	5	1	1	0	5	1	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:129559166C>A	ENST00000422113.2	-	9	2880	c.2554G>T	c.(2554-2556)Gga>Tga	p.G852*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.G390*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	852						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGCCCCGTCCCTCCATGAGT	0.532													23	64					2.39556e-15	3.17121e-15	1	0	A	129559166	C	A	129559166	4	1	395	1	0	0	0	0	0	1	0	0	16141	632	22	4	749	4	TMEM132D	12	129559166	Nonsense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	117015	129559166	4292729	260	75934											
PIWIL1	9271	broad.mit.edu	37	chr12	130856065	130856065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttgccagtacgcccaCaagctggcttttcttgttgg	5	13	10	13	1	1	0	0	0	1	0	2	0	2	0	3	2	3	5	3	2	2	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:130856065C>G	ENST00000245255.3	+	21	2780	c.2508C>G	c.(2506-2508)caC>caG	p.H836Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	836	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGTACGCCCACAAGCTGGCTT	0.463													45	109					0	0	0	0	G	130856065	C	G	130856065	3	3	395	1	0	0	0	0	1	0	0	0	12029	477	17	4	2586	4	PIWIL1	12	130856065	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1296899	130856065	2995830	261	75935											
RIMBP2	23504	broad.mit.edu	37	chr12	130921644	130921644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagaacttgctaatggctTtgattggggtgcaggtctcg	7	13	13	8	1	1	2	0	1	1	1	3	2	2	2	1	4	3	3	1	4	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:130921644T>C	ENST00000261655.4	-	10	1961	c.1798A>G	c.(1798-1800)Aag>Gag	p.K600E	RIMBP2_ENST00000535703.1_Missense_Mutation_p.K508E|RIMBP2_ENST00000536002.1_Missense_Mutation_p.K508E	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	600	Pro-rich.					cell junction|synapse				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)		GCTAATGGCTTTGATTGGGGT	0.657													4	18					0	0	0	0	C	130921644	T	C	130921644	3	2	395	1	0	0	0	0	1	0	0	0	13446	1850	64	5	1400	5	RIMBP2	12	130921644	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	65579	130921644	2930251	262	75936											
POLE	5426	broad.mit.edu	37	chr12	133253236	133253236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcaaatgccaaaaccacagGgtcctgtggggacaaaataa	16	6	10	9	0	1	0	1	0	0	0	2	1	2	1	3	3	2	0	3	3	6	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:133253236G>A	ENST00000320574.5	-	9	848	c.805C>T	c.(805-807)Cct>Tct	p.P269S	POLE_ENST00000535270.1_Missense_Mutation_p.P242S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	269					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AAAACCACAGGGTCCTGTGGG	0.498								DNA polymerases (catalytic subunits)					11	30					0	0	0	0	A	133253236	G	A	133253236	3	1	395	1	0	0	0	0	1	0	0	0	12268	1232	43	4	6219	4	POLE	12	133253236	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2331592	133253236	598659	263	75937											
SACS	26278	broad.mit.edu	37	chr13	23907284	23907284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccaggatgtcataaaTgtaacatgatttttgggttt	11	15	8	7	0	1	1	1	1	0	0	2	2	2	2	2	2	1	2	2	2	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:23907284T>C	ENST00000382298.3	-	10	11319	c.10731A>G	c.(10729-10731)acA>acG	p.T3577T	SACS_ENST00000382292.3_Silent_p.T3577T|SACS_ENST00000402364.1_Silent_p.T2827T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3577					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATGTCATAAATGTAACATGAT	0.323													11	15					0	0	0	0	C	23907284	T	C	23907284	2	2	395	1	0	0	0	0	0	0	0	1	13889	1451	51	5		5	SACS	13	23907284	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08		23907284	91262594	264	75938											
CDK8	1024	broad.mit.edu	37	chr13	26911769	26911769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctctatgtcggcatgtaGagaaatagcagtaagtgaag	14	10	12	5	1	1	2	0	1	1	1	3	4	1	2	0	1	1	4	0	1	6	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:26911769G>A	ENST00000381527.3	+	2	697	c.194G>A	c.(193-195)aGa>aAa	p.R65K	CDK8_ENST00000536792.1_Missense_Mutation_p.R65K	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	65	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TCGGCATGTAGAGAAATAGCA	0.289													27	49					0	0	0	0	A	26911769	G	A	26911769	3	1	395	1	0	0	0	0	1	0	0	0	3179	942	33	2	200	2	CDK8	13	26911769	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3004485	26911769	88258109	265	75939											
LCP1	3936	broad.mit.edu	37	chr13	46728938	46728938	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtaacggtgggaagacatAcctgaatggtgaaaggggtt	12	9	16	4	1	0	3	0	2	0	1	0	4	0	4	1	6	2	2	1	6	5	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:46728938A>T	ENST00000398576.2	-	9	962		c.e9+1		LCP1_ENST00000323076.2_Splice_Site			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)						regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGGAAGACATACCTGAATGGT	0.408			T	BCL6	NHL								12	26					0	0	0	0	T	46728938	A	T	46728938	5	4	395	1	0	0	0	0	0	0	1	0	8744	405	14	5	1352	5	LCP1	13	46728938	Splice_Site	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	19817169	46728938	68440940	266	75940											
CAB39L	81617	broad.mit.edu	37	chr13	49925023	49925023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcagcataatcccacaacGtaaggcaatctgtggggctt	11	10	9	11	1	2	0	1	0	2	0	4	0	3	0	1	3	2	4	1	3	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:49925023G>T	ENST00000355854.4	-	5	918	c.421C>A	c.(421-423)Cgt>Agt	p.R141S	CAB39L_ENST00000347776.5_Missense_Mutation_p.R141S|CAB39L_ENST00000409130.1_5'UTR|CAB39L_ENST00000409308.1_Missense_Mutation_p.R141S|CAB39L_ENST00000410043.1_Missense_Mutation_p.R141S	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	141					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ATCCCACAACGTAAGGCAATC	0.353													23	46					1.1804e-14	1.53618e-14	1	0	T	49925023	G	T	49925023	3	4	395	1	0	0	0	0	1	0	0	0	2551	1145	40	3	612	3	CAB39L	13	49925023	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3196085	49925023	65244855	267	75941											
MYCBP2	23077	broad.mit.edu	37	chr13	77835401	77835401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagccatcgtgtccaactGagaagtgtactatctttgga	11	11	11	8	1	1	2	0	1	1	2	3	5	2	3	2	1	3	1	2	1	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:77835401G>A	ENST00000407578.2	-	12	2023	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S548L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S548L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.S548*(2)|p.S586*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTGTCCAACTGAGAAGTGTAC	0.428													16	35					0	0	0	0	A	77835401	G	A	77835401	3	1	395	1	0	0	0	0	1	0	0	0	10088	1294	45	2	12567	2	MYCBP2	13	77835401	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	27910378	77835401	37334477	268	75942											
SLITRK1	114798	broad.mit.edu	37	chr13	84454740	84454740	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtttggagcagacccTggtgtggcatgatcctcttg	5	12	12	12	1	1	2	0	1	1	1	3	3	3	3	4	3	1	3	4	3	0	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:84454740T>A	ENST00000377084.2	-	1	1788	c.903A>T	c.(901-903)ccA>ccT	p.P301P		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	301						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGCAGACCCTGGTGTGGCAT	0.557													29	24					0	0	0	0	A	84454740	T	A	84454740	2	1	395	1	0	0	0	0	0	0	0	1	14830	1567	55	5		5	SLITRK1	13	84454740	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	6619339	84454740	30715138	269	75943											
F10	2159	broad.mit.edu	37	chr13	113793676	113793676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atcctctctttgcagatggcGaccagtgtgagaccagtcct	8	11	10	12	1	1	2	0	1	1	2	4	4	3	2	4	1	1	1	4	1	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:113793676G>C	ENST00000375559.3	+	4	300	c.262G>C	c.(262-264)Gac>Cac	p.D88H	F10_ENST00000375551.3_Missense_Mutation_p.D88H|F10_ENST00000409306.1_Missense_Mutation_p.D88H	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	88	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAGATGGCGACCAGTGTGA	0.507													15	22					0	0	0	0	C	113793676	G	C	113793676	3	2	395	1	0	0	0	0	1	0	0	0	5374	1058	37	3	276	3	F10	13	113793676	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	29338936	113793676	1376202	270	75944											
OR4K5	79317	broad.mit.edu	37	chr14	20389263	20389263	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatttactgtgaacctGcctttttgtggacctaatgt	8	18	7	8	0	1	1	1	1	0	0	1	2	1	2	3	1	3	0	3	1	4	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:20389263G>T	ENST00000315915.4	+	1	523	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGAACCTGCCTTTTTGTG	0.438													78	568					3.30373e-36	4.98799e-36	1	0	T	20389263	G	T	20389263	2	4	395	1	0	0	0	0	0	0	0	1	11144	1306	46	4		4	OR4K5	14	20389263	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08		20389263	86960277	271	75945											
MYH6	4624	broad.mit.edu	37	chr14	23871681	23871681	+	Frame_Shift_Del	DEL	C	C	-																															tgcccctcccaccttcggtgCcgtctggctccgcctgctcc																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:23871681delC	ENST00000405093.3	-	12	1203	c.1133delG	c.(1132-1134)gcfs	p.G378fs	MYH6_ENST00000356287.3_Frame_Shift_Del_p.G378fs	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	378	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACCTTCGGTGCCGTCTGGCTC	0.627													44	92	---	---	---	---					-	23871681	C	-	23871681	7	5	395	1	0	1	0	1	0	0	0	0	10108	739	26	0	4798	0	MYH6	14	23871681	Frame_Shift_Del	DEL	C	TCGA-DQ-7595-01A-11D-2229-08	3482418	23871681	83477859	272	75946											
FSCB	84075	broad.mit.edu	37	chr14	44973723	44973723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaacctgactacagttcaGgaggacgttgttttaattct	11	14	8	8	1	2	1	1	1	1	0	2	3	2	3	1	2	3	3	1	2	4	7			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:44973723G>T	ENST00000340446.4	-	1	2759	c.2468C>A	c.(2467-2469)cCt>cAt	p.P823H		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	823						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTACAGTTCAGGAGGACGTTG	0.393													17	37					1.02788e-11	1.2563e-11	1	0	T	44973723	G	T	44973723	3	4	395	1	0	0	0	0	1	0	0	0	6114	1000	35	4	13	4	FSCB	14	44973723	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	21102042	44973723	62375817	273	75947											
SAV1	60485	broad.mit.edu	37	chr14	51111689	51111689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtaaatcttcagaaccatgGttagtcaaatttcctaaaga	15	12	7	7	0	3	2	2	0	1	2	4	2	4	2	2	2	1	2	2	2	7	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:51111689G>A	ENST00000324679.4	-	3	942	c.579C>T	c.(577-579)aaC>aaT	p.N193N		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	193					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CAGAACCATGGTTAGTCAAAT	0.378													16	55					0	0	0	0	A	51111689	G	A	51111689	2	1	395	1	0	0	0	0	0	0	0	1	13942	1252	44	4		4	SAV1	14	51111689	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	6137966	51111689	56237851	274	75948											
NID2	22795	broad.mit.edu	37	chr14	52520434	52520434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggggaacatccatttccGaaggcactggccctccatct	8	9	10	14	1	1	0	0	0	1	0	4	2	4	1	4	4	1	1	4	4	2	1	rs142884639	byFrequency	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:52520434G>A	ENST00000216286.5	-	5	1291	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	NID2_ENST00000541773.1_Missense_Mutation_p.S378L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	431						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCCATTTCCGAAGGCACTGG	0.537													41	79					0	0	0	0	A	52520434	G	A	52520434	3	1	395	1	0	0	0	0	1	0	0	0	10485	1059	37	1	2907	1	NID2	14	52520434	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1408745	52520434	54829106	275	75949											
SAMD4A	23034	broad.mit.edu	37	chr14	55241726	55241726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggcagacggaacccgcGccagtaccagatcccctctc	9	5	10	17	3	1	2	0	0	1	2	3	3	2	3	5	2	2	2	5	2	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:55241726G>T	ENST00000251091.5	+	8	1831	c.1526G>T	c.(1525-1527)cGc>cTc	p.R509L	SAMD4A_ENST00000555192.1_Missense_Mutation_p.R188L|SAMD4A_ENST00000554335.1_Missense_Mutation_p.R597L|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R596L|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R597L	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	597					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CGGAACCCGCGCCAGTACCAG	0.637													29	61					2.24059e-21	3.16561e-21	1	0	T	55241726	G	T	55241726	3	4	395	1	0	0	0	0	1	0	0	0	13906	1087	38	3	1821	3	SAMD4A	14	55241726	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2721292	55241726	52107814	276	75950											
KIAA0586	9786	broad.mit.edu	37	chr14	59014613	59014613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtctcagcacaatgcAggaggacatggagtcttcgg	10	9	13	9	1	3	1	1	1	3	0	5	4	3	4	0	4	2	2	0	4	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:59014613A>T	ENST00000423743.3	+	32	4736	c.4478A>T	c.(4477-4479)cAg>cTg	p.Q1493L	KIAA0586_ENST00000261244.5_Missense_Mutation_p.Q1461L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.Q1522L|KIAA0586_ENST00000354386.6_Silent_p.A1618A	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1461										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCACAATGCAGGAGGACATG	0.527													18	58					0	0	0	0	T	59014613	A	T	59014613	3	4	395	1	0	0	0	0	1	0	0	0	8237	188	7	5	4500	5	KIAA0586	14	59014613	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	3772887	59014613	48334927	277	75951											
KCNH5	27133	broad.mit.edu	37	chr14	63417206	63417206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatattctaggtaatggtcCagtttcctagccacacggcc	9	11	8	13	1	1	0	0	0	1	0	3	0	3	0	5	3	1	2	5	3	4	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:63417206C>T	ENST00000322893.7	-	7	1282	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	KCNH5_ENST00000394968.1_Silent_p.L280L|KCNH5_ENST00000394964.2_Silent_p.L280L|KCNH5_ENST00000420622.2_Silent_p.L338L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	338					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGTAATGGTCCAGTTTCCTAG	0.473													34	63					0	0	0	0	T	63417206	C	T	63417206	2	4	395	1	0	0	0	0	0	0	0	1	8088	581	21	4		4	KCNH5	14	63417206	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	4402593	63417206	43932334	278	75952											
PLEKHG3	26030	broad.mit.edu	37	chr14	65207915	65207915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaccccccaggtgacatGgtggacttcgtggcagctga	8	8	14	11	1	0	2	0	2	0	0	1	4	0	4	3	5	1	2	3	5	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:65207915G>C	ENST00000247226.7	+	14	1820	c.1512G>C	c.(1510-1512)atG>atC	p.M504I	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.M93I|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.M560I|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.M65I	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	560					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGTGACATGGTGGACTTCG	0.607													46	122					0	0	0	0	C	65207915	G	C	65207915	3	2	395	1	0	0	0	0	1	0	0	0	12142	1348	47	4	1562	4	PLEKHG3	14	65207915	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1790709	65207915	42141625	279	75953											
ZFYVE1	53349	broad.mit.edu	37	chr14	73490889	73490889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctccttttgttaccccCagaatgagtcctcttctggc	5	15	8	13	0	3	2	0	1	3	1	5	2	4	2	4	1	1	1	4	1	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:73490889C>A	ENST00000556143.1	-	2	1048	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.G110W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.G110W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	110						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGTTACCCCCAGAATGAGTC	0.493													86	230					8.78091e-33	1.30864e-32	1	0	A	73490889	C	A	73490889	3	1	395	1	0	0	0	0	1	0	0	0	17758	594	21	4	2049	4	ZFYVE1	14	73490889	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	8282974	73490889	33858651	280	75954											
DLK1	8788	broad.mit.edu	37	chr14	101200935	101200935	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggagcaccgcatccTgaaggtgtccatgaaagagc	11	5	13	12	2	0	3	0	2	0	1	2	4	2	4	4	2	3	3	4	2	2	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:101200935T>A	ENST00000341267.4	+	5	1096	c.854T>A	c.(853-855)cTg>cAg	p.L285Q	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	285					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CACCGCATCCTGAAGGTGTCC	0.657													19	83					0	0	0	0	A	101200935	T	A	101200935	3	1	395	1	0	0	0	0	1	0	0	0	4601	1580	55	5	872	5	DLK1	14	101200935	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	27710046	101200935	6148605	281	75955											
UBE3A	7337	broad.mit.edu	37	chr15	25616522	25616522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattgtgatacgtcaagtCacattccacgttaggtgaca	12	12	8	9	2	2	2	2	2	0	0	3	2	3	2	1	1	2	1	1	1	4	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:25616522C>A	ENST00000232165.3	-	6	1455	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.D247Y|UBE3A_ENST00000397954.2_Missense_Mutation_p.D270Y|UBE3A_ENST00000428984.2_Missense_Mutation_p.D247Y|UBE3A_ENST00000566215.1_Missense_Mutation_p.D247Y	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	270					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TACGTCAAGTCACATTCCACG	0.368													31	75					7.01153e-11	8.45778e-11	1	0	A	25616522	C	A	25616522	3	1	395	1	0	0	0	0	1	0	0	0	16975	826	29	2	1851	2	UBE3A	15	25616522	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		25616522	76914870	282	75956											
PLCB2	5330	broad.mit.edu	37	chr15	40584575	40584575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtagtccttcatctccAggaagatgaagagcgcaggc	11	9	12	9	1	2	3	1	1	1	2	4	4	3	4	2	2	1	3	2	2	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:40584575A>G	ENST00000260402.3	-	22	2645	c.2396T>C	c.(2395-2397)cTg>cCg	p.L799P	PLCB2_ENST00000557821.1_Missense_Mutation_p.L795P|PLCB2_ENST00000456256.2_Missense_Mutation_p.L799P	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	799					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTTCATCTCCAGGAAGATGAA	0.597													11	30					0	0	0	0	G	40584575	A	G	40584575	3	3	395	1	0	0	0	0	1	0	0	0	12100	188	7	5	1205	5	PLCB2	15	40584575	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	14968053	40584575	61946817	283	75957											
GANC	2595	broad.mit.edu	37	chr15	42635316	42635316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcacagaaccaaaagcCaccacagttgatgtgtttct	13	9	7	12	0	2	2	1	1	1	1	2	2	2	2	4	0	2	2	4	0	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:42635316C>T	ENST00000318010.8	+	19	2433	c.2193C>T	c.(2191-2193)gcC>gcT	p.A731A		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	731					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AACCAAAAGCCACCACAGTTG	0.368													10	38					0	0	0	0	T	42635316	C	T	42635316	2	4	395	1	0	0	0	0	0	0	0	1	6283	581	21	4		4	GANC	15	42635316	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2050741	42635316	59896076	284	75958											
CGNL1	84952	broad.mit.edu	37	chr15	57816874	57816874	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccgcagggagctcgcagaAatgcaaagacagttgaagga	16	4	13	8	2	0	3	0	1	0	2	1	5	0	5	1	2	3	5	1	2	4	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:57816874A>T	ENST00000281282.5	+	12	3042	c.2964A>T	c.(2962-2964)gaA>gaT	p.E988D		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	988						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCTCGCAGAAATGCAAAGAC	0.502													24	71					0	0	0	0	T	57816874	A	T	57816874	3	4	395	1	0	0	0	0	1	0	0	0	3333	11	1	5	3006	5	CGNL1	15	57816874	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	15181558	57816874	44714518	285	75959											
HERC1	8925	broad.mit.edu	37	chr15	63904629	63904629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcacggtaccgcaccaCtttcttcaagacttccacag	10	9	5	17	2	3	1	2	0	1	1	4	1	4	1	4	1	1	2	4	1	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:63904629C>G	ENST00000443617.2	-	77	14308	c.14221G>C	c.(14221-14223)Gtg>Ctg	p.V4741L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4741	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TACCGCACCACTTTCTTCAAG	0.552													33	62					0	0	0	0	G	63904629	C	G	63904629	3	3	395	1	0	0	0	0	1	0	0	0	7107	565	20	4	372	4	HERC1	15	63904629	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	6087755	63904629	38626763	286	75960											
ITGA11	22801	broad.mit.edu	37	chr15	68606163	68606163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgaggtggaagcgtaaggGggccacgttgtcttccttgg	6	12	16	7	2	1	1	0	1	1	0	2	2	2	2	2	5	1	2	2	5	2	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:68606163G>A	ENST00000423218.2	-	23	2931	c.2836C>T	c.(2836-2838)Ccc>Tcc	p.P946S	ITGA11_ENST00000315757.7_Missense_Mutation_p.P946S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	946					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AAGCGTAAGGGGGCCACGTTG	0.642													10	23					0	0	0	0	A	68606163	G	A	68606163	3	1	395	1	0	0	0	0	1	0	0	0	7927	1232	43	4	762	4	ITGA11	15	68606163	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	4701534	68606163	33925229	287	75961											
ARNT2	9915	broad.mit.edu	37	chr15	80762620	80762620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactcagtacatcacggagCtctccgacatggtccccaca	10	8	8	15	2	3	1	2	1	1	0	5	3	4	2	3	2	2	2	3	2	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:80762620C>A	ENST00000533983.1	+	5	562	c.223C>A	c.(223-225)Ctc>Atc	p.L75I	ARNT2_ENST00000303329.4_Missense_Mutation_p.L86I|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.L75I			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	86	Poly-Arg.			R -> K (in Ref. 2; BAA20766).	central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CATCACGGAGCTCTCCGACAT	0.542													12	36					0.00010058	0.000107565	1	0	A	80762620	C	A	80762620	3	1	395	1	0	0	0	0	1	0	0	0	970	797	28	4	270	4	ARNT2	15	80762620	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	12156457	80762620	21768772	288	75962											
AKAP13	11214	broad.mit.edu	37	chr15	86118444	86118444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctgtgaggcatcatcgaGagttggacatctatacatta	11	13	10	7	1	3	2	1	1	2	1	4	4	3	3	0	2	1	3	0	2	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:86118444G>A	ENST00000394518.2	+	6	840	c.745G>A	c.(745-747)Gag>Aag	p.E249K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E249K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	249					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCATCATCGAGAGTTGGACAT	0.433													39	87					0	0	0	0	A	86118444	G	A	86118444	3	1	395	1	0	0	0	0	1	0	0	0	449	943	33	2	763	2	AKAP13	15	86118444	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	5355824	86118444	16412948	289	75963											
ACAN	176	broad.mit.edu	37	chr15	89398451	89398451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggagatgtttcaggaCaccttgacttcagtgggcag	9	10	14	8	0	2	2	2	1	0	1	2	4	2	3	1	3	0	3	1	3	0	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:89398451C>A	ENST00000439576.2	+	12	3009	c.2635C>A	c.(2635-2637)Cac>Aac	p.H879N	ACAN_ENST00000561243.1_Missense_Mutation_p.H879N|ACAN_ENST00000352105.7_Missense_Mutation_p.H879N|ACAN_ENST00000559004.1_Missense_Mutation_p.H879N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	879					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTTTCAGGACACCTTGACTT	0.612													8	42					0.000442599	0.000466851	1	0	A	89398451	C	A	89398451	3	1	395	1	0	0	0	0	1	0	0	0	117	478	17	4	2677	4	ACAN	15	89398451	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3280007	89398451	13132941	290	75964											
CHD2	1106	broad.mit.edu	37	chr15	93528731	93528731	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcgatctttctcaggctCagacaaatgacagtgactct	10	11	8	12	1	4	3	2	2	3	1	6	4	4	3	1	1	0	1	1	1	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:93528731C>T	ENST00000394196.4	+	26	4309	c.3241C>T	c.(3241-3243)Cag>Tag	p.Q1081*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.Q1081*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1081					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTCTCAGGCTCAGACAAATGA	0.453													14	31					0	0	0	0	T	93528731	C	T	93528731	4	4	395	1	0	0	0	0	0	1	0	0	3354	827	29	2	3343	2	CHD2	15	93528731	Nonsense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	4130280	93528731	9002661	291	75965											
NR2F2	7026	broad.mit.edu	37	chr15	96877459	96877459	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgtcgcgcttcggcagccaAtgcatgcagcccaacaacat	11	6	9	15	4	0	0	0	0	0	0	2	0	0	0	2	1	6	4	2	1	3	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:96877459A>T	ENST00000394166.3	+	2	1986	c.597A>T	c.(595-597)caA>caT	p.Q199H	NR2F2_ENST00000453270.2_Missense_Mutation_p.Q46H|NR2F2_ENST00000421109.2_Missense_Mutation_p.Q66H|NR2F2_ENST00000394171.2_Missense_Mutation_p.Q46H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	199	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TCGGCAGCCAATGCATGCAGC	0.597													65	203					0	0	0	0	T	96877459	A	T	96877459	3	4	395	1	0	0	0	0	1	0	0	0	10699	98	4	5	650	5	NR2F2	15	96877459	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	3348728	96877459	5653933	292	75966											
CASKIN1	57524	broad.mit.edu	37	chr16	2234977	2234977	+	Frame_Shift_Del	DEL	G	G	-																															gagccttccggaggcttggcGgggctgtcccccgggccgga																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:2234977delG	ENST00000343516.6	-	13	1391	c.1299delC	c.(1297-1299)ccfs	p.P433fs	CASKIN1_ENST00000564289.1_5'UTR	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	433	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GAGGCTTGGCGGGGCTGTCCC	0.667													29	46	---	---	---	---					-	2234977	G	-	2234977	7	5	395	1	0	1	0	1	0	0	0	0	2691	1103	39	0	3028	0	CASKIN1	16	2234977	Frame_Shift_Del	DEL	G	TCGA-DQ-7595-01A-11D-2229-08		2234977	88119776	293	75967											
NLRC3	197358	broad.mit.edu	37	chr16	3614318	3614318	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctgggactgccaccGccaggctgggctccccgacg	4	5	14	18	3	0	0	0	0	0	0	1	2	1	1	6	4	1	3	6	4	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:3614318G>T	ENST00000301749.7	-	0	1025				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACTGCCACCGCCAGGCTGGG	0.652													16	12					0.000308642	0.000327047	1	0	T	3614318	G	T	3614318	1	4	395	0	1	0	0	0	0	0	0	0	10538	1087	38	3		3	NLRC3	16	3614318	RNA	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1379341	3614318	86740435	294	75968											
ADCY9	115	broad.mit.edu	37	chr16	4164621	4164621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcccagtgcagggcccCggctccgggcgaggggaagc	6	3	17	15	3	0	0	0	0	0	0	2	2	2	1	4	5	3	3	4	5	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:4164621C>T	ENST00000294016.3	-	2	1361	c.823G>A	c.(823-825)Ggg>Agg	p.G275R		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	275					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCAGGGCCCCGGCTCCGGGC	0.627													35	26					0	0	0	0	T	4164621	C	T	4164621	3	4	395	1	0	0	0	0	1	0	0	0	301	652	23	1	3278	1	ADCY9	16	4164621	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	550303	4164621	86190132	295	75969											
TMEM186	25880	broad.mit.edu	37	chr16	8890005	8890005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtatgtgtcctgccgccagCcccagaagttcagatgggcc	8	8	12	13	1	1	2	1	0	0	2	2	2	2	2	6	1	2	2	6	1	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:8890005C>A	ENST00000333050.6	-	2	479	c.446G>T	c.(445-447)gGc>gTc	p.G149V	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	149						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CTGCCGCCAGCCCCAGAAGTT	0.542													24	72					2.21704e-12	2.75341e-12	1	0	A	8890005	C	A	8890005	3	1	395	1	0	0	0	0	1	0	0	0	16202	739	26	4	199	4	TMEM186	16	8890005	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	4725384	8890005	81464748	296	75970											
CACNG3	10368	broad.mit.edu	37	chr16	24366278	24366278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcattctcagcgcgggcatCttttttgtctctgcaggtga	5	15	11	10	2	4	1	2	1	3	0	6	1	4	1	0	2	2	2	0	2	0	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:24366278C>T	ENST00000005284.3	+	3	1622	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	140					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCGCGGGCATCTTTTTTGTCT	0.577													21	49					0	0	0	0	T	24366278	C	T	24366278	2	4	395	1	0	0	0	0	0	0	0	1	2583	903	32	2		2	CACNG3	16	24366278	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	15476273	24366278	65988475	297	75971											
CDH5	1003	broad.mit.edu	37	chr16	66426224	66426224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagctgaaggaaaaccaGaagaagcctctgattggcac	14	7	10	10	0	1	4	0	2	1	2	2	5	2	5	3	2	3	2	3	2	5	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:66426224G>A	ENST00000341529.3	+	7	1303	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	CDH5_ENST00000563425.2_Silent_p.Q385Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	385	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGGAAAACCAGAAGAAGCCTC	0.532													45	85					0	0	0	0	A	66426224	G	A	66426224	2	1	395	1	0	0	0	0	0	0	0	1	3142	933	33	2		2	CDH5	16	66426224	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	42059946	66426224	23928529	298	75972											
ZFHX3	463	broad.mit.edu	37	chr16	72991476	72991476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtagagctcggcctcggCgggtgagggcaggctgccga	5	7	19	10	4	0	2	0	1	0	1	2	3	0	2	2	6	2	4	2	6	1	2	rs146607776		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:72991476C>A	ENST00000268489.5	-	2	3241	c.2569G>T	c.(2569-2571)Gcc>Tcc	p.A857S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	857					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCGGCCTCGGCGGGTGAGGGC	0.577													32	77					2.23313e-29	3.27525e-29	1	0	A	72991476	C	A	72991476	3	1	395	1	0	0	0	0	1	0	0	0	17729	768	27	3	8578	3	ZFHX3	16	72991476	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	6565252	72991476	17363277	299	75973											
CNTNAP4	85445	broad.mit.edu	37	chr16	76532584	76532584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcctctgctctgccaGggagacagtaagtggttaca	8	9	14	10	0	2	1	0	0	2	1	2	2	2	1	2	4	3	3	2	4	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:76532584G>T	ENST00000307431.8	+	16	2740	c.2355G>T	c.(2353-2355)caG>caT	p.Q785H	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q789H|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q713H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q737H	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	786	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTCTGCCAGGGAGACAGTA	0.398													4	17					0.184627	0.185028	1	0	T	76532584	G	T	76532584	3	4	395	1	0	0	0	0	1	0	0	0	3679	991	35	4	2429	4	CNTNAP4	16	76532584	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3541108	76532584	13822169	300	75974											
GSG2	83903	broad.mit.edu	37	chr17	3627403	3627403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcatcggcgacccctcGcagtccgacgatcctgacga	8	5	11	17	6	0	1	0	1	0	0	4	5	2	1	5	1	1	2	5	1	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:3627403G>A	ENST00000325418.4	+	1	193	c.174G>A	c.(172-174)tcG>tcA	p.S58S	ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	58					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GCGACCCCTCGCAGTCCGACG	0.751													7	7					0	0	0	0	A	3627403	G	A	3627403	2	1	395	1	0	0	0	0	0	0	0	1	6872	1074	38	1		1	GSG2	17	3627403	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08		3627403	77567807	301	75975											
SLC13A5	284111	broad.mit.edu	37	chr17	6589585	6589585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatccaagtcaaatatggCccgtccccaggtgttgacag	11	9	10	11	1	1	2	1	2	0	0	3	2	3	2	4	2	0	1	4	2	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:6589585C>T	ENST00000433363.2	-	12	1881	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	550						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCAAATATGGCCCGTCCCCAG	0.473													4	133					0	0	0	0	T	6589585	C	T	6589585	3	4	395	1	0	0	0	0	1	0	0	0	14483	739	26	4	62	4	SLC13A5	17	6589585	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2962182	6589585	74605625	302	75976											
TP53	7157	broad.mit.edu	37	chr17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacgcaaatttccttccactCggataagatgctgaggaggg	11	9	11	10	2	0	2	0	1	0	1	3	4	2	4	2	3	1	2	2	3	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:7578262C>G	ENST00000420246.2	-	6	719	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000269305.4_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R196P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(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)		TCCTTCCACTCGGATAAGATG	0.547		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)			14	31					0	0	0	0	G	7578262	C	G	7578262	3	3	395	1	0	0	0	0	1	0	0	0	16476	884	31	3	707	3	TP53	17	7578262	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	988677	7578262	73616948	303	75977											
MYH8	4626	broad.mit.edu	37	chr17	10299732	10299732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaattcatgaatttgctttCctccctctgcaatctgctca	8	15	4	14	0	4	1	2	1	2	0	6	1	6	1	3	0	3	3	3	0	3	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:10299732C>T	ENST00000403437.2	-	33	4662	c.4568G>A	c.(4567-4569)gGa>gAa	p.G1523E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1523					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AATTTGCTTTCCTCCCTCTGC	0.428									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	14					0	0	0	0	T	10299732	C	T	10299732	3	4	395	1	0	0	0	0	1	0	0	0	10111	855	30	2	1277	2	MYH8	17	10299732	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2721470	10299732	70895478	304	75978											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13399973	13399973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcttggacagcgtctgCgtgtagtccgagatggccct	5	9	15	12	4	1	1	0	0	1	1	2	3	2	2	3	3	2	2	3	3	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:13399973C>T	ENST00000284110.1	-	2	1559	c.762G>A	c.(760-762)acG>acA	p.T254T	HS3ST3A1_ENST00000578576.1_Silent_p.T52T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	254						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACAGCGTCTGCGTGTAGTCCG	0.647													22	50					0	0	0	0	T	13399973	C	T	13399973	2	4	395	1	0	0	0	0	0	0	0	1	7415	755	27	1		1	HS3ST3A1	17	13399973	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3100241	13399973	67795237	305	75979											
NCOR1	9611	broad.mit.edu	37	chr17	16068441	16068441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttgccccgaaattggagagGatggagcttcatgtttgcct	8	12	13	8	1	1	1	1	0	0	1	1	5	1	3	3	3	3	3	3	3	1	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:16068441G>A	ENST00000268712.3	-	5	727	c.470C>T	c.(469-471)tCc>tTc	p.S157F	NCOR1_ENST00000395848.1_Missense_Mutation_p.S48F|NCOR1_ENST00000395851.1_Missense_Mutation_p.S157F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	157	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			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)		AATTGGAGAGGATGGAGCTTC	0.393													8	129					0	0	0	0	A	16068441	G	A	16068441	3	1	395	1	0	0	0	0	1	0	0	0	10305	1174	41	2	7020	2	NCOR1	17	16068441	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2668468	16068441	65126769	306	75980											
UTP6	55813	broad.mit.edu	37	chr17	30214306	30214306	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttcctcagtttttcAgcatgcatcagctccatcct	6	16	4	15	0	4	0	3	0	1	0	8	0	7	0	4	0	3	4	4	0	0	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:30214306A>G	ENST00000261708.4	-	8	707	c.570T>C	c.(568-570)gcT>gcC	p.A190A	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	190					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCAGTTTTTCAGCATGCATCA	0.343													3	38					0	0	0	0	G	30214306	A	G	30214306	2	3	395	1	0	0	0	0	0	0	0	1	17198	175	7	5		5	UTP6	17	30214306	Silent	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	14145865	30214306	50980904	307	75981											
ZNHIT3	9326	broad.mit.edu	37	chr17	34848673	34848673	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaacagtgcaaccctgaAactcgtcctgttgagaaaaa	15	8	8	10	1	1	3	1	2	0	2	3	4	2	3	2	0	4	2	2	0	5	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:34848673A>C	ENST00000225410.4	+	3	200	c.135A>C	c.(133-135)gaA>gaC	p.E45D	ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.E45D|ZNHIT3_ENST00000588253.1_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	45					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GCAACCCTGAAACTCGTCCTG	0.448													31	93					0	0	0	0	C	34848673	A	C	34848673	3	2	395	1	0	0	0	0	1	0	0	0	18301	11	1	5	145	5	ZNHIT3	17	34848673	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	4634367	34848673	46346537	308	75982											
GH2	2689	broad.mit.edu	37	chr17	61958452	61958452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactctgagaagcagagggaGgtctgggggttctgcaggaa	10	7	18	6	0	3	2	0	1	3	2	3	6	3	4	0	5	2	3	0	5	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:61958452G>A	ENST00000332800.7	-	3	361	c.228C>T	c.(226-228)acC>acT	p.T76T	GH2_ENST00000456543.2_Silent_p.T76T|GH2_ENST00000423893.2_Silent_p.T76T|GH2_ENST00000449787.2_Silent_p.T61T	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	76						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGCAGAGGGAGGTCTGGGGGT	0.532													101	277					0	0	0	0	A	61958452	G	A	61958452	2	1	395	1	0	0	0	0	0	0	0	1	6419	987	35	4		4	GH2	17	61958452	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	27109779	61958452	19236758	309	75983											
ABCA10	10349	broad.mit.edu	37	chr17	67150133	67150133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgccttactgatgctctGctgccttgtaacaccacctg	6	14	8	13	0	1	1	0	1	1	0	1	1	1	1	4	0	6	4	4	0	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:67150133G>T	ENST00000269081.4	-	33	4713	c.3804C>A	c.(3802-3804)agC>agA	p.S1268R	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1268	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGATGCTCTGCTGCCTTGTA	0.468													35	89					4.62619e-21	6.51616e-21	1	0	T	67150133	G	T	67150133	3	4	395	1	0	0	0	0	1	0	0	0	29	1310	46	4	859	4	ABCA10	17	67150133	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	5191681	67150133	14045077	310	75984											
C17orf77	146723	broad.mit.edu	37	chr17	72588882	72588882	+	Frame_Shift_Del	DEL	C	C	-																															ctgggctgtctgacccactgCcccttcccccaggaacactt																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:72588882delC	ENST00000392620.1	+	3	1059	c.697delC	c.(697-699)ccfs	p.P233fs	C17orf77_ENST00000328023.2_Frame_Shift_Del_p.P233fs	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	233						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGACCCACTGCCCCTTCCCCC	0.577													24	55	---	---	---	---					-	72588882	C	-	72588882	7	5	395	1	0	1	0	1	0	0	0	0	1898	739	26	0	699	0	C17orf77	17	72588882	Frame_Shift_Del	DEL	C	TCGA-DQ-7595-01A-11D-2229-08	5438749	72588882	8606328	311	75985											
USH1G	124590	broad.mit.edu	37	chr17	72916366	72916366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccagatgctgcagccGgcggctcagggtgctggacg	6	5	17	13	4	1	1	1	0	0	1	1	2	1	2	2	4	5	4	2	4	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:72916366G>A	ENST00000319642.1	-	2	747	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	189					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTGCAGCCGGCGGCTCAGG	0.682													20	56					0	0	0	0	A	72916366	G	A	72916366	3	1	395	1	0	0	0	0	1	0	0	0	17131	1115	39	1	828	1	USH1G	17	72916366	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	327484	72916366	8278844	312	75986											
MRPL38	64978	broad.mit.edu	37	chr17	73900765	73900765	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgatgtcactgttgggcaTcggccccagcgggggtgtcc	4	9	16	12	3	1	0	1	0	0	0	4	1	2	0	3	4	1	2	3	4	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:73900765T>A	ENST00000309352.3	-	2	640	c.103A>T	c.(103-105)Atg>Ttg	p.M35L	MRPL38_ENST00000585475.1_Intron|MRPL38_ENST00000409963.3_5'UTR|RP11-552F3.12_ENST00000587556.1_3'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	35						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTTGGGCATCGGCCCCAGC	0.726													3	10					0	0	0	0	A	73900765	T	A	73900765	3	1	395	1	0	0	0	0	1	0	0	0	9871	1435	50	5	1071	5	MRPL38	17	73900765	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	984399	73900765	7294445	313	75987											
AFMID	125061	broad.mit.edu	37	chr17	76201735	76201735	+	Frame_Shift_Del	DEL	G	G	-																															aaggtggcccaggcacagccGgtggaccccacctgccgtgt																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:76201735delG	ENST00000409257.5	+	9	750	c.696delG	c.(694-696)ccfs	p.P232fs	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Frame_Shift_Del_p.P232fs|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	232						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGGCACAGCCGGTGGACCCCA	0.652													20	41	---	---	---	---					-	76201735	G	-	76201735	7	5	395	1	0	1	0	1	0	0	0	0	362	1103	39	0	730	0	AFMID	17	76201735	Frame_Shift_Del	DEL	G	TCGA-DQ-7595-01A-11D-2229-08	2300970	76201735	4993475	314	75988											
RPTOR	57521	broad.mit.edu	37	chr17	78899188	78899188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgcggacgacgcggacGatgctgctggacacaaaagt	12	5	14	10	5	0	1	0	0	0	1	0	6	0	4	0	3	3	2	0	3	2	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:78899188G>T	ENST00000306801.3	+	24	3189	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y	RPTOR_ENST00000544334.2_Missense_Mutation_p.D785Y|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	943					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGACGCGGACGATGCTGCTGG	0.577													12	33					1.41608e-15	1.89083e-15	1	0	T	78899188	G	T	78899188	3	4	395	1	0	0	0	0	1	0	0	0	13750	1058	37	3	2921	3	RPTOR	17	78899188	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2697453	78899188	2296022	315	75989											
CD7	924	broad.mit.edu	37	chr17	80274611	80274611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcctggcaggtgtaggtgCcagtgtccgacagctgcagg	6	8	17	10	1	0	0	0	0	0	0	1	1	1	0	3	5	3	4	3	5	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:80274611C>A	ENST00000584284.1	-	2	410	c.329G>T	c.(328-330)gGc>gTc	p.G110V	CD7_ENST00000583376.1_Missense_Mutation_p.G10V|CD7_ENST00000578509.1_Missense_Mutation_p.G10V|CD7_ENST00000312648.3_Missense_Mutation_p.G110V			P09564	CD7_HUMAN	CD7 molecule	110	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GGTGTAGGTGCCAGTGTCCGA	0.637													38	142					5.44703e-19	7.53451e-19	1	0	A	80274611	C	A	80274611	3	1	395	1	0	0	0	0	1	0	0	0	3061	739	26	4	405	4	CD7	17	80274611	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1375423	80274611	920599	316	75990											
RBBP8	5932	broad.mit.edu	37	chr18	20572878	20572878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatctgaaaacactccCttttagcaacacttgtatat	16	12	3	10	0	1	1	0	1	1	0	2	1	2	1	1	0	4	2	1	0	8	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:20572878C>T	ENST00000399722.2	+	11	1439	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	RBBP8_ENST00000399725.2_Missense_Mutation_p.P363L|RBBP8_ENST00000360790.5_Missense_Mutation_p.P363L|RBBP8_ENST00000327155.5_Missense_Mutation_p.P363L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	363					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAAACACTCCCTTTTAGCAAC	0.363								Homologous recombination					30	71					0	0	0	0	T	20572878	C	T	20572878	3	4	395	1	0	0	0	0	1	0	0	0	13187	681	24	4	1126	4	RBBP8	18	20572878	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		20572878	57504370	317	75991											
TAF4B	6875	broad.mit.edu	37	chr18	23866365	23866365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgggaccacatctgacaagCctgttattgggactccagtt	9	11	10	11	0	1	1	0	1	1	0	2	3	2	3	3	2	1	2	3	2	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:23866365C>G	ENST00000269142.5	+	7	2490	c.1492C>G	c.(1492-1494)Cct>Gct	p.P498A	TAF4B_ENST00000578121.1_Missense_Mutation_p.P498A|TAF4B_ENST00000400466.2_Missense_Mutation_p.P498A	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	498					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ATCTGACAAGCCTGTTATTGG	0.488													29	51					0	0	0	0	G	23866365	C	G	23866365	3	3	395	1	0	0	0	0	1	0	0	0	15618	739	26	4	1518	4	TAF4B	18	23866365	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	3293487	23866365	54210883	318	75992											
SLC39A6	25800	broad.mit.edu	37	chr18	33706800	33706800	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcggtagaaaagctgttgTagatgatattgccgtgtgga	11	12	14	4	2	0	3	0	1	0	2	0	4	0	4	1	2	3	4	1	2	6	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:33706800T>C	ENST00000269187.5	-	2	384	c.171A>G	c.(169-171)ctA>ctG	p.L57L	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Silent_p.L57L	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	57						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AAAGCTGTTGTAGATGATATT	0.373													25	38					0	0	0	0	C	33706800	T	C	33706800	2	2	395	1	0	0	0	0	0	0	0	1	14710	1625	57	5		5	SLC39A6	18	33706800	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	9840435	33706800	44370448	319	75993											
ELP2	55250	broad.mit.edu	37	chr18	33750057	33750057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagtgcgactccactgAtgactgtattgagcacaaca	11	9	12	9	1	0	4	0	4	0	0	1	5	1	4	1	1	3	2	1	1	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:33750057A>G	ENST00000358232.6	+	20	2171	c.2108A>G	c.(2107-2109)gAt>gGt	p.D703G	ELP2_ENST00000350494.6_Missense_Mutation_p.D698G|ELP2_ENST00000542824.1_Missense_Mutation_p.D633G|ELP2_ENST00000423854.2_Missense_Mutation_p.D633G|ELP2_ENST00000351393.6_Missense_Mutation_p.D677G|ELP2_ENST00000442325.2_Missense_Mutation_p.D768G	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	703					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GACTCCACTGATGACTGTATT	0.527													23	34					0	0	0	0	G	33750057	A	G	33750057	3	3	395	1	0	0	0	0	1	0	0	0	5118	333	12	5	2186	5	ELP2	18	33750057	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	43257	33750057	44327191	320	75994											
DCC	1630	broad.mit.edu	37	chr18	50985774	50985774	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccaagacctcacaccaGtcagccacagccagtcagaa	13	5	8	15	0	3	2	3	0	0	2	3	2	3	2	5	0	3	1	5	0	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:50985774G>C	ENST00000442544.2	+	24	4181	c.3565G>C	c.(3565-3567)Gtc>Ctc	p.V1189L	DCC_ENST00000581580.1_Missense_Mutation_p.V824L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1189					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTCACACCAGTCAGCCACAG	0.458													39	46					0	0	0	0	C	50985774	G	C	50985774	3	2	395	1	0	0	0	0	1	0	0	0	4314	1029	36	4	3659	4	DCC	18	50985774	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	17235717	50985774	27091474	321	75995											
WDR7	23335	broad.mit.edu	37	chr18	54424273	54424273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtttgaatgaagtactgGatgaagtttgcctggatcgc	9	12	15	5	1	0	3	0	3	0	0	1	5	0	5	1	4	2	3	1	4	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:54424273G>T	ENST00000254442.3	+	15	2660	c.2449G>T	c.(2449-2451)Gat>Tat	p.D817Y	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D817Y	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	817										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGAAGTACTGGATGAAGTTTG	0.473													57	82					1.55088e-19	2.15168e-19	1	0	T	54424273	G	T	54424273	3	4	395	1	0	0	0	0	1	0	0	0	17416	1174	41	2	2503	2	WDR7	18	54424273	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3438499	54424273	23652975	322	75996											
ATP9B	374868	broad.mit.edu	37	chr18	77107889	77107889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggcggcactcggccagttCgtcatgcacaggggccttat	6	9	13	13	4	1	0	1	0	0	0	4	0	1	0	2	5	1	3	2	5	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:77107889C>T	ENST00000426216.2	+	24	2819	c.2802C>T	c.(2800-2802)ttC>ttT	p.F934F	ATP9B_ENST00000543761.1_Silent_p.F255F|ATP9B_ENST00000307671.7_Silent_p.F934F	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	934					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCGGCCAGTTCGTCATGCACA	0.627													22	37					0	0	0	0	T	77107889	C	T	77107889	2	4	395	1	0	0	0	0	0	0	0	1	1203	883	31	1		1	ATP9B	18	77107889	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	22683616	77107889	969359	323	75997											
FEM1A	55527	broad.mit.edu	37	chr19	4792420	4792420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcgccaagggcaacaCggccctgcatgactgcgccg	8	3	14	16	5	0	1	0	1	0	0	0	1	0	1	3	2	4	3	3	2	2	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:4792420C>T	ENST00000269856.3	+	1	693	c.554C>T	c.(553-555)aCg>aTg	p.T185M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	185					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.T185K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AAGGGCAACACGGCCCTGCAT	0.677													4	24					0	0	0	0	T	4792420	C	T	4792420	3	4	395	1	0	0	0	0	1	0	0	0	5854	536	19	1	556	1	FEM1A	19	4792420	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		4792420	54336563	324	75998											
FBN3	84467	broad.mit.edu	37	chr19	8168502	8168502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcagggcagacacaggtgTagttccccagggtgttgtag	8	9	15	9	0	0	1	0	0	0	1	1	1	1	1	2	3	1	6	2	3	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:8168502T>C	ENST00000600128.1	-	39	5297	c.4883A>G	c.(4882-4884)tAc>tGc	p.Y1628C	FBN3_ENST00000270509.2_Missense_Mutation_p.Y1628C|FBN3_ENST00000601739.1_Missense_Mutation_p.Y1628C			Q75N90	FBN3_HUMAN	fibrillin 3	1628	EGF-like 25; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GACACAGGTGTAGTTCCCCAG	0.557													22	36					0	0	0	0	C	8168502	T	C	8168502	3	2	395	1	0	0	0	0	1	0	0	0	5749	1638	57	5	3650	5	FBN3	19	8168502	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	3376082	8168502	50960481	325	75999											
MUC16	94025	broad.mit.edu	37	chr19	8971730	8971730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagccaatggaatgaggCattcagggtcttatctagaa	12	9	11	9	0	3	2	1	1	2	1	3	3	3	3	2	3	1	1	2	3	5	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:8971730C>A	ENST00000397910.4	-	78	43065	c.42862G>T	c.(42862-42864)Gcc>Tcc	p.A14288S	MUC16_ENST00000380951.5_Missense_Mutation_p.A929S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14360	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAATGAGGCATTCAGGGTC	0.532													10	29					0.000673444	0.000703917	1	0	A	8971730	C	A	8971730	3	1	395	1	0	0	0	0	1	0	0	0	10043	710	25	4	689	4	MUC16	19	8971730	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	803228	8971730	50157253	326	76000											
MUC16	94025	broad.mit.edu	37	chr19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcttttggggtcaagaCggtgggtgcagatggcatcc	7	9	17	8	1	1	2	1	0	0	2	2	2	2	2	1	6	1	3	1	6	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9014654C>T	ENST00000397910.4	-	31	38524	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12776	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAAGACGGTGGGTGCA	0.567													32	75					0	0	0	0	T	9014654	C	T	9014654	3	4	395	1	0	0	0	0	1	0	0	0	10043	536	19	1	5418	1	MUC16	19	9014654	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	42924	9014654	50114329	327	76001											
MUC16	94025	broad.mit.edu	37	chr19	9020781	9020781	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgagagaggtcagtcTgcagccagagtacagagggc	11	6	14	10	0	3	4	2	1	1	3	3	5	3	4	2	2	3	2	2	2	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9020781T>G	ENST00000397910.4	-	20	37524	c.37321A>C	c.(37321-37323)Aga>Cga	p.R12441R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12443	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGTCAGTCTGCAGCCAGAG	0.537													48	116					0	0	0	0	G	9020781	T	G	9020781	2	3	395	1	0	0	0	0	0	0	0	1	10043	1588	55	5		5	MUC16	19	9020781	Silent	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	6127	9020781	50108202	328	76002											
MUC16	94025	broad.mit.edu	37	chr19	9048036	9048036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacagtaggggagacagCtaaagttggaatggctgaaa	14	9	14	4	0	0	2	0	1	0	1	0	4	0	3	0	4	2	5	0	4	6	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9048036C>T	ENST00000397910.4	-	5	33798	c.33595G>A	c.(33595-33597)Gct>Act	p.A11199T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11201	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGAGACAGCTAAAGTTGGA	0.453													14	26					0	0	0	0	T	9048036	C	T	9048036	3	4	395	1	0	0	0	0	1	0	0	0	10043	797	28	4	10248	4	MUC16	19	9048036	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	27255	9048036	50080947	329	76003											
MUC16	94025	broad.mit.edu	37	chr19	9088992	9088992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgttgccgtcccagtgagGtgagatattttaggaagagc	10	12	13	6	1	0	3	0	2	0	2	1	5	1	4	2	2	2	1	2	2	3	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9088992G>A	ENST00000397910.4	-	1	3026	c.2823C>T	c.(2821-2823)caC>caT	p.H941H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	941	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCAGTGAGGTGAGATATTT	0.483													33	98					0	0	0	0	A	9088992	G	A	9088992	2	1	395	1	0	0	0	0	0	0	0	1	10043	1252	44	4		4	MUC16	19	9088992	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	40956	9088992	50039991	330	76004											
OLFM2	93145	broad.mit.edu	37	chr19	9964938	9964938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggccgttgttccaggtaTagagggcgcgctcccggggg	4	8	19	10	4	0	1	0	0	0	1	2	1	2	1	3	6	0	4	3	6	2	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9964938T>C	ENST00000264833.4	-	6	1474	c.1289A>G	c.(1288-1290)tAt>tGt	p.Y430C	OLFM2_ENST00000590841.1_Missense_Mutation_p.Y352C	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	430	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTTCCAGGTATAGAGGGCGCG	0.572													28	84					0	0	0	0	C	9964938	T	C	9964938	3	2	395	1	0	0	0	0	1	0	0	0	10924	1406	49	5	79	5	OLFM2	19	9964938	Missense_Mutation	SNP	T	TCGA-DQ-7595-01A-11D-2229-08	875946	9964938	49164045	331	76005											
EPS15L1	58513	broad.mit.edu	37	chr19	16504767	16504767	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacactgaattttacctgttGaagttgtctgctgttctgca	9	16	8	8	0	2	2	0	2	2	0	2	2	2	2	1	0	4	5	1	0	4	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:16504767G>C	ENST00000455140.2	-	18	2027	c.1961C>G	c.(1960-1962)tCa>tGa	p.S654*	EPS15L1_ENST00000594975.1_Nonsense_Mutation_p.S656*|EPS15L1_ENST00000535753.2_Nonsense_Mutation_p.S654*|EPS15L1_ENST00000248070.6_Nonsense_Mutation_p.S654*	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	654	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTTACCTGTTGAAGTTGTCTG	0.537													27	71					0	0	0	0	C	16504767	G	C	16504767	4	2	395	1	0	0	0	0	0	1	0	0	5231	1294	45	2	657	2	EPS15L1	19	16504767	Nonsense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	6539829	16504767	42624216	332	76006											
NCAN	1463	broad.mit.edu	37	chr19	19349079	19349079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaccgagggctgtgacCgcggctggcataagttccag	9	6	14	12	3	0	2	0	1	0	1	1	3	1	2	3	3	0	4	3	3	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:19349079C>A	ENST00000252575.5	+	11	3311	c.3268C>A	c.(3268-3270)Cgc>Agc	p.R1090S	NCAN_ENST00000538881.1_Missense_Mutation_p.R541S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1090	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGCTGTGACCGCGGCTGGCA	0.657													30	71					1.22384e-17	1.6581e-17	1	0	A	19349079	C	A	19349079	3	1	395	1	0	0	0	0	1	0	0	0	10274	652	23	3	3306	3	NCAN	19	19349079	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2844312	19349079	39779904	333	76007											
ZNF536	9745	broad.mit.edu	37	chr19	30935513	30935513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacgagttccgctgcgaGgtgtgcggtcaggtgttcag	6	9	16	10	4	2	0	2	0	0	0	3	2	3	0	2	3	3	3	2	3	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:30935513G>C	ENST00000355537.3	+	2	1191	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCGCTGCGAGGTGTGCGGTC	0.652													56	173					0	0	0	0	C	30935513	G	C	30935513	3	2	395	1	0	0	0	0	1	0	0	0	18069	991	35	4	1046	4	ZNF536	19	30935513	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	11586434	30935513	28193470	334	76008											
ZNF420	147923	broad.mit.edu	37	chr19	37619744	37619744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagaagccctatgaatgCagagaatgtagaaaggcctt	14	8	13	6	0	0	4	0	2	0	3	0	6	0	4	2	2	2	2	2	2	6	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:37619744C>T	ENST00000337995.3	+	5	2066	c.1851C>T	c.(1849-1851)tgC>tgT	p.C617C	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTATGAATGCAGAGAATGTA	0.433													13	47					0	0	0	0	T	37619744	C	T	37619744	2	4	395	1	0	0	0	0	0	0	0	1	17992	718	25	4		4	ZNF420	19	37619744	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	6684231	37619744	21509239	335	76009											
ZNF585B	92285	broad.mit.edu	37	chr19	37676952	37676953	+	Frame_Shift_Ins	INS	-	-	AT																															ggcctttccacatttggaacINSatatataagatttctctcct																										TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:37676952_37676953insAT	ENST00000532828.2	-	5	1737_1738	c.1486_1487insAT	c.(1486-1488)ttcfs	p.F496fs	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.F441fs|ZNF585B_ENST00000312908.5_Frame_Shift_Ins_p.F84fs	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTTGGAACATATATAAGAT	0.401													19	69	---	---	---	---					AT	37676953	-	AT	37676952	7	5	395	1	0	1	1	0	0	0	0	0	18113	478	17	0	826	0	ZNF585B	19	37676952	Frame_Shift_Ins	INS	-	TCGA-DQ-7595-01A-11D-2229-08	57208	37676952	21452031	336	76010											
ZNF780B	163131	broad.mit.edu	37	chr19	40540472	40540472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggttgaacaaggtttgagCcacgattaaaggccttccca	12	9	11	9	1	0	2	0	2	0	0	1	4	1	2	3	3	2	2	3	3	4	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:40540472C>A	ENST00000434248.1	-	5	2359	c.2294G>T	c.(2293-2295)gGc>gTc	p.G765V	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G617V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGTTTGAGCCACGATTAAA	0.433													32	71					9.04072e-19	1.24681e-18	1	0	A	40540472	C	A	40540472	3	1	395	1	0	0	0	0	1	0	0	0	18246	739	26	4	211	4	ZNF780B	19	40540472	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	2863520	40540472	18588511	337	76011											
PSG8	440533	broad.mit.edu	37	chr19	43268377	43268377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaactttggttggctGggcttcaatcgtgacttggg	7	13	13	8	1	2	2	2	1	0	1	3	2	2	2	0	4	1	3	0	4	2	4	rs150588080	byFrequency	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:43268377G>T	ENST00000404209.4	-	2	217	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	PSG8_ENST00000306511.4_Missense_Mutation_p.Q41K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q41K|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	41	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTGGTTGGCTGGGCTTCAATC	0.468													77	185					1.03218e-28	1.49959e-28	1	0	T	43268377	G	T	43268377	3	4	395	1	0	0	0	0	1	0	0	0	12740	1357	47	4	1196	4	PSG8	19	43268377	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2727905	43268377	15860606	338	76012											
SIX5	147912	broad.mit.edu	37	chr19	46271390	46271390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgcgtgagcgacaggccgGtgagtgtggccaggcggcgc	5	5	19	12	5	0	2	0	2	0	0	0	3	0	2	3	5	2	0	3	5	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:46271390G>A	ENST00000317578.6	-	1	1094	c.713C>T	c.(712-714)aCc>aTc	p.T238I	SIX5_ENST00000560168.1_Intron|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	238						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CGACAGGCCGGTGAGTGTGGC	0.711													12	28					0	0	0	0	A	46271390	G	A	46271390	3	1	395	1	0	0	0	0	1	0	0	0	14438	1261	44	4	1518	4	SIX5	19	46271390	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	3003013	46271390	12857593	339	76013											
NOVA2	4858	broad.mit.edu	37	chr19	46444058	46444058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgggctcgccgctgaccGtcaccacgcgctcctgcagg	4	6	13	18	6	1	1	1	1	0	0	4	1	2	1	4	2	1	5	4	2	0	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:46444058G>A	ENST00000263257.5	-	4	736	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	181	KH 2.					nucleus	RNA binding	p.T181M(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCCGCTGACCGTCACCACGCG	0.632													8	27					0	0	0	0	A	46444058	G	A	46444058	3	1	395	1	0	0	0	0	1	0	0	0	10625	1145	40	1	940	1	NOVA2	19	46444058	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	172668	46444058	12684925	340	76014											
IRF3	3661	broad.mit.edu	37	chr19	50166762	50166765	+	Frame_Shift_Del	DEL	CGGC	CGGC	-																															aacatatgcaccagtggcctCggcccaggcctggggcaaca																								rs112234580		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:50166762_50166765delCGGC	ENST00000597198.1	-	3	553_556	c.172_175delGCCG	c.(172-177)agfs	p.AE58fs	IRF3_ENST00000442265.2_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377139.3_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000601291.1_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000599223.1_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000600911.1_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000309877.7_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000377135.4_Frame_Shift_Del_p.AE58fs			Q14653	IRF3_HUMAN	interferon regulatory factor 3	58					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCAGTGGCCTCGGCCCAGGCCTGG	0.603													7	33	---	---	---	---					-	50166765	CGGC	-	50166762	7	5	395	1	0	1	0	1	0	0	0	0	7884	893	31	0	1132	0	IRF3	19	50166762	Frame_Shift_Del	DEL	CGGC	TCGA-DQ-7595-01A-11D-2229-08	3722704	50166762	8962221	341	76015											
SIGLEC12	89858	broad.mit.edu	37	chr19	52004699	52004699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttgttctgtgggtcccCaaggaggtggaatcggtccc	6	11	13	11	1	1	0	0	0	1	0	5	2	4	2	4	5	0	1	4	5	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:52004699C>A	ENST00000291707.3	-	1	344	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	97	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.G97R(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTGGGTCCCCAAGGAGGTGG	0.537													52	148					1.59911e-31	2.37553e-31	1	0	A	52004699	C	A	52004699	3	1	395	1	0	0	0	0	1	0	0	0	14396	594	21	4	1603	4	SIGLEC12	19	52004699	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1837937	52004699	7124284	342	76016											
ZNF577	84765	broad.mit.edu	37	chr19	52376427	52376427	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggctttcccacacacactGcacccatagagtttctctcc	10	10	5	16	0	1	1	0	0	1	1	4	1	3	1	3	1	1	3	3	1	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:52376427G>T	ENST00000420592.1	-	6	1972	c.639C>A	c.(637-639)tgC>tgA	p.C213*	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Nonsense_Mutation_p.C272*|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.C213*|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACACACACTGCACCCATAGA	0.478													19	39					2.35188e-11	2.86694e-11	1	0	T	52376427	G	T	52376427	4	4	395	1	0	0	0	0	0	1	0	0	18104	1311	46	4	645	4	ZNF577	19	52376427	Nonsense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	371728	52376427	6752556	343	76017											
ZNF845	91664	broad.mit.edu	37	chr19	53848882	53848882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attataggaacctggtctccCtgggtgaggataacttccct	9	12	10	10	0	1	1	0	1	1	0	3	3	2	3	3	4	2	0	3	4	4	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:53848882C>T	ENST00000458035.1	+	3	256	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	ZNF845_ENST00000595091.1_Silent_p.L47L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CCTGGTCTCCCTGGGTGAGGA	0.483													43	131					0	0	0	0	T	53848882	C	T	53848882	2	4	395	1	0	0	0	0	0	0	0	1	18284	680	24	4		4	ZNF845	19	53848882	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1472455	53848882	5280101	344	76018											
ZNF761	388561	broad.mit.edu	37	chr19	53960313	53960313	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgctagaattcacactGgagagaaaccttaccagtgt	15	9	8	9	0	1	2	1	0	0	2	1	4	1	3	2	1	4	1	2	1	5	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:53960313G>T	ENST00000454407.1	+	0	3005							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATTCACACTGGAGAGAAACC	0.428													12	30					5.50884e-06	5.98843e-06	1	0	T	53960313	G	T	53960313	1	4	395	0	1	0	0	0	0	0	0	0	18230	1363	47	4		4	ZNF761	19	53960313	RNA	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	111431	53960313	5168670	345	76019											
KIR3DL3	115653	broad.mit.edu	37	chr19	55246766	55246766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgggacctcagtggtcatCatcccctttgctatcctcct	6	14	7	14	0	3	0	3	0	0	0	6	1	6	1	5	2	1	1	5	2	1	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:55246766C>T	ENST00000291860.1	+	6	1014	c.996C>T	c.(994-996)atC>atT	p.I332I	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	332						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CAGTGGTCATCATCCCCTTTG	0.483													28	55					0	0	0	0	T	55246766	C	T	55246766	2	4	395	1	0	0	0	0	0	0	0	1	8374	816	29	2		2	KIR3DL3	19	55246766	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1286453	55246766	3882217	346	76020											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341599	55341599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgacatacgcacagttgGatcactgcgttttcacacag	11	10	10	10	2	2	1	2	1	0	0	2	2	2	2	0	2	2	3	0	2	1	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:55341599G>A	ENST00000391728.4	+	9	1237	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCACAGTTGGATCACTGCGT	0.512													5	410					0	0	0	0	A	55341599	G	A	55341599	3	1	395	1	0	0	0	0	1	0	0	0	8372	1174	41	2	1238	2	KIR3DL1	19	55341599	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	94833	55341599	3787384	347	76021											
PPP1R12C	54776	broad.mit.edu	37	chr19	55603243	55603243	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgaatctctccagttccAggagggctggcctctcagcg	7	9	11	14	2	3	0	2	0	2	0	7	2	5	1	3	3	1	2	3	3	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:55603243A>T	ENST00000263433.3	-	20	2210	c.2195T>A	c.(2194-2196)cTg>cAg	p.L732Q	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.L657Q|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.L669Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	732						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CTCCAGTTCCAGGAGGGCTGG	0.602													47	143					0	0	0	0	T	55603243	A	T	55603243	3	4	395	1	0	0	0	0	1	0	0	0	12432	188	7	5	165	5	PPP1R12C	19	55603243	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	261644	55603243	3525740	348	76022											
ZNF470	388566	broad.mit.edu	37	chr19	57088549	57088549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaccaaagaattcataCaggagagaaaccctatgaat	17	9	6	9	0	3	3	2	1	1	2	3	5	3	4	2	1	2	0	2	1	6	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:57088549C>A	ENST00000330619.8	+	6	1438	c.752C>A	c.(751-753)aCa>aAa	p.T251K	ZNF470_ENST00000391709.3_Missense_Mutation_p.T251K|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGAATTCATACAGGAGAGAAA	0.388													33	75					7.6516e-34	1.14774e-33	1	0	A	57088549	C	A	57088549	3	1	395	1	0	0	0	0	1	0	0	0	18024	478	17	4	766	4	ZNF470	19	57088549	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1485306	57088549	2040434	349	76023											
NKX2-2	4821	broad.mit.edu	37	chr20	21494085	21494085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgctggccagccagcGcgtgtacgggttgtcgctgc	3	9	16	13	5	0	0	0	0	0	0	2	0	0	0	2	3	5	4	2	3	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:21494085G>A	ENST00000377142.4	-	1	579	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	75					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCCAGCCAGCGCGTGTACGGG	0.682													15	27					0	0	0	0	A	21494085	G	A	21494085	3	1	395	1	0	0	0	0	1	0	0	0	10520	1087	38	1	606	1	NKX2-2	20	21494085	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08		21494085	41531435	350	76024											
CEP250	11190	broad.mit.edu	37	chr20	34061217	34061217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacctaaggcagcagcttGcaggctgtcaagaggctgtg	10	7	15	9	0	1	1	1	0	0	1	1	2	1	2	1	4	3	6	1	4	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:34061217G>T	ENST00000397527.1	+	13	1948	c.1228G>T	c.(1228-1230)Gca>Tca	p.A410S	CEP250_ENST00000342580.4_Missense_Mutation_p.A410S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	410					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGCAGCTTGCAGGCTGTCA	0.547													13	34					4.36969e-10	5.21653e-10	1	0	T	34061217	G	T	34061217	3	4	395	1	0	0	0	0	1	0	0	0	3281	1319	46	4	1266	4	CEP250	20	34061217	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	12567132	34061217	28964303	351	76025											
SLC2A10	81031	broad.mit.edu	37	chr20	45358126	45358126	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcagttccagaagagaCggtaggaagctgacagggtg	13	5	15	8	1	0	3	0	1	0	2	1	5	1	4	2	3	2	4	2	3	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:45358126C>T	ENST00000359271.2	+	4	1796	c.1547_splice	c.e4+1	p.R516_splice		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	516						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCAGAAGAGACGGTAGGAAGC	0.527													14	58					0	0	0	0	T	45358126	C	T	45358126	5	4	395	1	0	0	0	0	0	0	1	0	14627	550	19	1	1560	1	SLC2A10	20	45358126	Splice_Site	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	11296909	45358126	17667394	352	76026											
ZNF831	128611	broad.mit.edu	37	chr20	57768622	57768622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaggtgggcccacgcagCctgcctctttgtcatcccag	5	8	10	18	1	2	0	1	0	1	0	3	0	3	0	6	2	2	1	6	2	0	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:57768622C>A	ENST00000371030.2	+	1	2548	c.2548C>A	c.(2548-2550)Cct>Act	p.P850T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	850						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCACGCAGCCTGCCTCTTT	0.637													25	57					2.79863e-10	3.35836e-10	1	0	A	57768622	C	A	57768622	3	1	395	1	0	0	0	0	1	0	0	0	18278	739	26	4	2550	4	ZNF831	20	57768622	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	12410496	57768622	5256898	353	76027											
SLC17A9	63910	broad.mit.edu	37	chr20	61588215	61588215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccgtctccatgagccAggacttcggctggaacaaga	10	7	11	13	2	1	2	0	1	1	1	3	4	1	4	3	3	3	2	3	3	2	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:61588215A>G	ENST00000370349.3	+	3	344	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	SLC17A9_ENST00000370351.4_Missense_Mutation_p.Q53R|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	53					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCCATGAGCCAGGACTTCGGC	0.652													15	37					0	0	0	0	G	61588215	A	G	61588215	3	3	395	1	0	0	0	0	1	0	0	0	14512	188	7	5	164	5	SLC17A9	20	61588215	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	3819593	61588215	1437305	354	76028											
DIP2A	23181	broad.mit.edu	37	chr21	47987506	47987506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcttcctggctgaccagctgGaccccatctatgtcgcctac	6	10	9	16	1	1	1	0	1	1	0	3	2	2	2	5	2	2	3	5	2	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr21:47987506G>C	ENST00000318711.7	+	38	4873	c.4690G>C	c.(4690-4692)Gac>Cac	p.D1564H	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Missense_Mutation_p.D1563H|DIP2A_ENST00000400274.1_Missense_Mutation_p.D1559H	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1563					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGACCAGCTGGACCCCATCTA	0.617													28	68					0	0	0	0	C	47987506	G	C	47987506	3	2	395	1	0	0	0	0	1	0	0	0	4564	1174	41	2	4950	2	DIP2A	21	47987506	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08		47987506	142389	355	76029											
CCT8L2	150160	broad.mit.edu	37	chr22	17072314	17072314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtggtggctcccctgagaAccacagtgagggcaggtgtg	7	7	18	9	0	0	2	0	2	0	1	1	3	1	2	3	5	1	2	3	5	1	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:17072314A>G	ENST00000359963.3	-	1	1386	c.1127T>C	c.(1126-1128)gTt>gCt	p.V376A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	376					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCCCTGAGAACCACAGTGAG	0.567													37	66					0	0	0	0	G	17072314	A	G	17072314	3	3	395	1	0	0	0	0	1	0	0	0	2990	43	2	5	550	5	CCT8L2	22	17072314	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08		17072314	34232252	356	76030											
BID	637	broad.mit.edu	37	chr22	18222145	18222145	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctggtgttcctgagctgCagggccaggccgttcaccag	5	8	15	13	2	1	1	1	1	0	0	2	1	2	1	4	4	2	5	4	4	0	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:18222145C>A	ENST00000317361.7	-	4	797	c.471G>T	c.(469-471)ctG>ctT	p.L157L	BID_ENST00000399767.1_Silent_p.L15L|BID_ENST00000342111.5_3'UTR|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Silent_p.L15L|BID_ENST00000399774.3_Silent_p.L111L|BID_ENST00000551952.1_Silent_p.L111L	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	111					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TCCTGAGCTGCAGGGCCAGGC	0.662													5	17					0.000602214	0.000630891	1	0	A	18222145	C	A	18222145	2	1	395	1	0	0	0	0	0	0	0	1	1435	697	25	4		4	BID	22	18222145	Silent	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1149831	18222145	33082421	357	76031											
CHEK2	11200	broad.mit.edu	37	chr22	29090106	29090106	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgacaaggtccagagCtaaagcaacaattgggcaaa	15	8	9	9	0	1	2	0	1	1	1	2	2	2	2	1	2	3	3	1	2	6	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:29090106C>T	ENST00000544772.1	-	14	2149		c.e14-1		CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000405598.1_Splice_Site|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000382566.1_Splice_Site	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2						cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGGTCCAGAGCTAAAGCAACA	0.448			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					47	127					0	0	0	0	T	29090106	C	T	29090106	5	4	395	1	0	0	0	0	0	0	1	0	3364	811	28	4	268	4	CHEK2	22	29090106	Splice_Site	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	10867961	29090106	22214460	358	76032											
APOL1	8542	broad.mit.edu	37	chr22	36661941	36661941	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgtagtctacctcgtGtacgaatcaaagcacttaca	12	11	8	10	2	2	0	1	0	1	0	3	2	2	1	1	1	4	3	1	1	6	4			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:36661941G>T	ENST00000319136.4	+	7	1374	c.1107G>T	c.(1105-1107)gtG>gtT	p.V369V	APOL1_ENST00000397278.3_Silent_p.V353V|APOL1_ENST00000347595.7_Silent_p.V232V|APOL1_ENST00000397279.4_Silent_p.V353V|APOL1_ENST00000422706.1_Silent_p.V353V|APOL1_ENST00000426053.1_Silent_p.V335V	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	353					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCTACCTCGTGTACGAATCAA	0.502													17	52					1.67942e-08	1.94947e-08	1	0	T	36661941	G	T	36661941	2	4	395	1	0	0	0	0	0	0	0	1	807	1364	48	4		4	APOL1	22	36661941	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	7571835	36661941	14642625	359	76033											
CARD10	29775	broad.mit.edu	37	chr22	37891531	37891531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccgtgctcacattactgCgggggcctcggtgccggctg	4	8	15	14	4	1	0	1	0	0	0	2	0	1	0	3	4	5	2	3	4	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:37891531C>A	ENST00000403299.1	-	16	2582	c.2366G>T	c.(2365-2367)cGc>cTc	p.R789L	CARD10_ENST00000251973.5_Missense_Mutation_p.R789L|CARD10_ENST00000406271.3_Missense_Mutation_p.R503L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	789					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACATTACTGCGGGGGCCTCG	0.607													5	18					0.000602214	0.000630891	1	0	A	37891531	C	A	37891531	3	1	395	1	0	0	0	0	1	0	0	0	2669	768	27	3	756	3	CARD10	22	37891531	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1229590	37891531	13413035	360	76034											
DMC1	11144	broad.mit.edu	37	chr22	38948700	38948700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgagaaagctgggtttttCcagtacgaaattctgtgaaa	13	13	10	5	1	1	2	0	2	1	1	2	4	2	2	1	1	2	3	1	1	5	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:38948700C>A	ENST00000216024.2	-	7	668	c.392G>T	c.(391-393)gGa>gTa	p.G131V	DMC1_ENST00000428462.2_Missense_Mutation_p.G131V	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	131					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CTGGGTTTTTCCAGTACGAAA	0.289								Homologous recombination					5	36					0.000602214	0.000630891	1	0	A	38948700	C	A	38948700	3	1	395	1	0	0	0	0	1	0	0	0	4616	855	30	2	662	2	DMC1	22	38948700	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	1057169	38948700	12355866	361	76035											
MGAT3	4248	broad.mit.edu	37	chr22	39884457	39884457	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggctgcacggtggacAtgctgcaggcagtgtatggg	7	9	17	8	1	1	0	1	0	0	0	1	1	1	1	0	5	3	6	0	5	1	1			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:39884457A>T	ENST00000341184.6	+	2	1320	c.1105A>T	c.(1105-1107)Atg>Ttg	p.M369L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	369					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CACGGTGGACATGCTGCAGGC	0.632													37	110					0	0	0	0	T	39884457	A	T	39884457	3	4	395	1	0	0	0	0	1	0	0	0	9613	217	8	5	1107	5	MGAT3	22	39884457	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	935757	39884457	11420109	362	76036											
EP300	2033	broad.mit.edu	37	chr22	41572275	41572275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtgatccgcctcattGctggccctgctgccaactcc	4	13	8	16	1	2	1	1	1	1	0	4	1	4	1	5	1	4	2	5	1	1	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:41572275G>T	ENST00000263253.7	+	30	6023	c.4804G>T	c.(4804-4806)Gct>Tct	p.A1602S	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1602	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCGCCTCATTGCTGGCCCTGC	0.542			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				59	139					9.65139e-37	1.46195e-36	1	0	T	41572275	G	T	41572275	3	4	395	1	0	0	0	0	1	0	0	0	5186	1319	46	4	4922	4	EP300	22	41572275	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	1687818	41572275	9732291	363	76037											
PMM1	5372	broad.mit.edu	37	chr22	41980050	41980050	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatgccattccggaactcGatgaaggttccactggtggt	9	10	12	10	2	0	1	0	1	0	0	3	3	2	2	3	4	3	2	3	4	2	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:41980050G>A	ENST00000216259.7	-	5	471	c.387C>T	c.(385-387)atC>atT	p.I129I	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	129					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TCCGGAACTCGATGAAGGTTC	0.597													17	68					0	0	0	0	A	41980050	G	A	41980050	2	1	395	1	0	0	0	0	0	0	0	1	12208	1048	37	1		1	PMM1	22	41980050	Silent	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	407775	41980050	9324516	364	76038											
PKDREJ	10343	broad.mit.edu	37	chr22	46655679	46655679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtcacggggttttggtGaaggctcttgatgatgttta	7	14	16	4	1	2	3	1	3	1	0	2	4	2	3	0	5	0	3	0	5	2	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:46655679G>T	ENST00000253255.5	-	1	3540	c.3541C>A	c.(3541-3543)Cac>Aac	p.H1181N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1181					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGGTTTTGGTGAAGGCTCTTG	0.473													53	151					9.22156e-22	1.30686e-21	1	0	T	46655679	G	T	46655679	3	4	395	1	0	0	0	0	1	0	0	0	12042	1290	45	2	3224	2	PKDREJ	22	46655679	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	4675629	46655679	4648887	365	76039											
MAGEB18	286514	broad.mit.edu	37	chrX	26157626	26157626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccatcaggcactactatgCctttttcagcaaattagacc	11	12	5	13	0	2	1	2	0	0	1	3	1	3	1	3	1	3	2	3	1	4	5			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:26157626C>T	ENST00000325250.1	+	2	711	c.524C>T	c.(523-525)gCc>gTc	p.A175V		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	175	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CACTACTATGCCTTTTTCAGC	0.448													6	6					0	0	0	0	T	26157626	C	T	26157626	3	4	395	1	0	0	0	0	1	0	0	0	9244	739	26	4	526	4	MAGEB18	23	26157626	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08		26157626	129112934	366	76040											
FAM47B	170062	broad.mit.edu	37	chrX	34961286	34961286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcgccagtacagccagCacggaaggcgttcgtagagg	9	6	14	12	4	1	1	0	0	1	1	3	2	1	2	2	3	3	5	2	3	3	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:34961286C>A	ENST00000329357.5	+	1	374	c.338C>A	c.(337-339)gCa>gAa	p.A113E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	113										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTACAGCCAGCACGGAAGGCG	0.522													38	23					2.19358e-23	3.15711e-23	1	0	A	34961286	C	A	34961286	3	1	395	1	0	0	0	0	1	0	0	0	5617	710	25	4	340	4	FAM47B	23	34961286	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	8803660	34961286	120309274	367	76041											
PLP2	5355	broad.mit.edu	37	chrX	49029611	49029611	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaccaagataccattcAtcaactggccctggagtgtg	11	9	9	12	0	2	1	2	0	0	1	2	2	2	2	3	2	3	1	3	2	3	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:49029611A>T	ENST00000376327.5	+	2	307	c.232A>T	c.(232-234)Atc>Ttc	p.I78F	PLP2_ENST00000376322.3_Missense_Mutation_p.I78F	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	78	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GATACCATTCATCAACTGGCC	0.527													18	16					0	0	0	0	T	49029611	A	T	49029611	3	4	395	1	0	0	0	0	1	0	0	0	12177	217	8	5	238	5	PLP2	23	49029611	Missense_Mutation	SNP	A	TCGA-DQ-7595-01A-11D-2229-08	14068325	49029611	106240949	368	76042											
HEPH	9843	broad.mit.edu	37	chrX	65420534	65420534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcttcagggcatgaggaagGgtgcagctatgctctttcct	8	11	13	9	0	2	1	1	1	1	0	3	2	3	2	1	3	4	5	1	3	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:65420534G>T	ENST00000519389.1	+	12	2358	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C	HEPH_ENST00000336279.5_Missense_Mutation_p.G406C|HEPH_ENST00000441993.2_Missense_Mutation_p.G676C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.G676C|HEPH_ENST00000343002.2_Missense_Mutation_p.G673C			Q9BQS7	HEPH_HUMAN	hephaestin	673					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGAGGAAGGGTGCAGCTAT	0.557													9	8					1.76689e-08	2.04588e-08	1	0	T	65420534	G	T	65420534	3	4	395	1	0	0	0	0	1	0	0	0	7104	1232	43	4	2225	4	HEPH	23	65420534	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	16390923	65420534	89850026	369	76043											
HEPH	9843	broad.mit.edu	37	chrX	65476077	65476077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatgaaaataagtcttGgtatttggaggaaaatgtgg	13	15	12	1	0	1	2	0	2	1	0	1	4	1	4	0	4	0	1	0	4	6	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:65476077G>T	ENST00000519389.1	+	17	3142	c.2963G>T	c.(2962-2964)tGg>tTg	p.W988L	HEPH_ENST00000336279.5_Missense_Mutation_p.W667L|HEPH_ENST00000441993.2_Missense_Mutation_p.W937L|HEPH_ENST00000419594.1_Missense_Mutation_p.W745L|HEPH_ENST00000374727.3_Missense_Mutation_p.W937L|HEPH_ENST00000343002.2_Missense_Mutation_p.W934L			Q9BQS7	HEPH_HUMAN	hephaestin	934	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AATAAGTCTTGGTATTTGGAG	0.453													26	35					1.17739e-12	1.47015e-12	1	0	T	65476077	G	T	65476077	3	4	395	1	0	0	0	0	1	0	0	0	7104	1357	47	4	3029	4	HEPH	23	65476077	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	55543	65476077	89794483	370	76044											
KLHL4	56062	broad.mit.edu	37	chrX	86869564	86869564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaattccttggtgcagtatGcttacacaggtaagtgccaa	12	12	9	8	0	0	0	0	0	0	0	1	0	1	0	2	2	4	4	2	2	6	6			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:86869564G>A	ENST00000373119.4	+	3	863	c.718G>A	c.(718-720)Gct>Act	p.A240T	KLHL4_ENST00000373114.4_Missense_Mutation_p.A240T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	240	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGTGCAGTATGCTTACACAGG	0.348													17	5					0	0	0	0	A	86869564	G	A	86869564	3	1	395	1	0	0	0	0	1	0	0	0	8443	1319	46	4	728	4	KLHL4	23	86869564	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	21393487	86869564	68400996	371	76045											
GLA	2717	broad.mit.edu	37	chrX	100652942	100652943	+	In_Frame_Ins	INS	-	-	AGG																															gaggagctgtgtgatgaagcINSaggcaggattacaggccact																								rs113993943		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:100652942_100652943insAGG	ENST00000218516.3	-	7	1165_1166	c.1144_1145insCCT	c.(1144-1146)ctt>CCTctt	p.381_382insP	GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	381					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TGTGATGAAGCAGGCAGGATTA	0.49													22	33	---	---	---	---					AGG	100652943	-	AGG	100652942	7	5	395	1	0	1	1	0	0	0	0	0	6477	710	25	0	148	0	GLA	23	100652942	In_Frame_Ins	INS	-	TCGA-DQ-7595-01A-11D-2229-08	13783378	100652942	54617618	372	76046											
PLP1	5354	broad.mit.edu	37	chrX	103041641	103041641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtttgggaaaatggctaGgacatcccgacaaggtgatc	12	10	12	7	1	0	1	0	1	0	0	2	4	1	3	1	4	0	2	1	4	4	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:103041641G>A	ENST00000418604.1	+	4	719	c.439G>A	c.(439-441)Gga>Aga	p.G147R	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000303958.2_Missense_Mutation_p.G147R	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	147			Missing (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AAAATGGCTAGGACATCCCGA	0.562													75	55					0	0	0	0	A	103041641	G	A	103041641	3	1	395	1	0	0	0	0	1	0	0	0	12176	1001	35	4	449	4	PLP1	23	103041641	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2388699	103041641	52228919	373	76047											
SAGE1	55511	broad.mit.edu	37	chrX	134988621	134988621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggaaaatgtccaacCagcacctgataacgtgttgt	14	9	10	8	1	0	2	0	1	0	1	1	4	1	3	3	1	3	2	3	1	5	2			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:134988621C>T	ENST00000535938.1	+	7	814	c.647C>T	c.(646-648)cCa>cTa	p.P216L	SAGE1_ENST00000370709.3_Missense_Mutation_p.P216L|SAGE1_ENST00000324447.3_Missense_Mutation_p.P216L|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	216										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGTCCAACCAGCACCTGAT	0.443													36	119					0	0	0	0	T	134988621	C	T	134988621	3	4	395	1	0	0	0	0	1	0	0	0	13894	594	21	4	669	4	SAGE1	23	134988621	Missense_Mutation	SNP	C	TCGA-DQ-7595-01A-11D-2229-08	31946980	134988621	20281939	374	76048											
SPANXN2	494119	broad.mit.edu	37	chrX	142795403	142795403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgtgaagatccttcaGctgagtctaggccttcgtcc	6	12	9	14	1	2	3	1	2	1	1	6	3	5	3	5	1	1	1	5	1	2	3			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:142795403G>A	ENST00000370498.1	-	2	1028	c.275C>T	c.(274-276)gCt>gTt	p.A92V		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	92										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCCTTCAGCTGAGTCTAG	0.498													139	128					0	0	0	0	A	142795403	G	A	142795403	3	1	395	1	0	0	0	0	1	0	0	0	15081	971	34	4	271	4	SPANXN2	23	142795403	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	7806782	142795403	12475157	375	76049											
SLITRK2	84631	broad.mit.edu	37	chrX	144904886	144904886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcgtccaactcctcgaGtgactgtgtcaaaggacagg	12	8	11	10	2	1	1	1	1	0	0	5	4	3	2	2	2	1	0	2	2	3	0			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:144904886G>T	ENST00000370490.1	+	1	5198	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	SLITRK2_ENST00000447897.2_Missense_Mutation_p.V315L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V315L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V315L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V315L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	315						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AACTCCTCGAGTGACTGTGTC	0.552													25	30					1.96895e-08	2.26846e-08	1	0	T	144904886	G	T	144904886	3	4	395	1	0	0	0	0	1	0	0	0	14831	1029	36	4	945	4	SLITRK2	23	144904886	Missense_Mutation	SNP	G	TCGA-DQ-7595-01A-11D-2229-08	2109483	144904886	10365674	376	76050											
AADACL4	343066	broad.mit.edu	37	chr1	12726598	12726598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttgctctataagaagcGcttggaggaccagggggtcc	9	8	14	10	1	1	1	0	0	1	1	2	3	2	3	2	4	3	3	2	4	3	4	rs150325490	by1000genomes	TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:12726598G>A	ENST00000376221.1	+	4	1076	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	359						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TATAAGAAGCGCTTGGAGGAC	0.493													69	155					0	0	0	0	A	12726598	G	A	12726598	3	1	396	1	0	0	0	0	1	0	0	0	13	1087	38	1	1090	1	AADACL4	1	12726598	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		12726598	236524023	1	76051											
PRDM2	7799	broad.mit.edu	37	chr1	14106511	14106511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaggcggaccagctctcctCccagttctccacagcacagt	9	7	9	16	1	2	1	0	0	2	1	5	2	3	2	4	2	2	3	4	2	0	1			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:14106511C>T	ENST00000235372.7	+	8	3077	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P540S|PRDM2_ENST00000311066.5_Missense_Mutation_p.P741S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P540S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	741						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGCTCTCCTCCCAGTTCTCC	0.502													6	132					0	0	0	0	T	14106511	C	T	14106511	3	4	396	1	0	0	0	0	1	0	0	0	12538	855	30	2	2247	2	PRDM2	1	14106511	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08	1379913	14106511	235144110	2	76052											
PRDM2	7799	broad.mit.edu	37	chr1	14108764	14108764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcccaaaaaaaaagtttctCattcatctaagaaaggtgga	17	10	6	8	0	3	1	2	0	2	1	5	2	4	2	1	2	0	1	1	2	6	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:14108764C>G	ENST00000235372.7	+	8	5330	c.4474C>G	c.(4474-4476)Cat>Gat	p.H1492D	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.H1291D|PRDM2_ENST00000311066.5_Missense_Mutation_p.H1492D|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.H1291D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1492						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAAGTTTCTCATTCATCTAA	0.443													11	339					0	0	0	0	G	14108764	C	G	14108764	3	3	396	1	0	0	0	0	1	0	0	0	12538	826	29	2	4500	2	PRDM2	1	14108764	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08	2253	14108764	235141857	3	76053											
INADL	10207	broad.mit.edu	37	chr1	62274164	62274164	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgctactttggacacaCagattgcagatgatgctgag	11	11	12	7	0	0	4	0	2	0	2	0	5	0	5	0	2	4	4	0	2	1	4			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:62274164C>T	ENST00000371158.2	+	14	1759	c.1645C>T	c.(1645-1647)Cag>Tag	p.Q549*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Q549*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	549					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTTGGACACACAGATTGCAGA	0.284													3	28					0	0	0	0	T	62274164	C	T	62274164	4	4	396	1	0	0	0	0	0	1	0	0	7784	479	17	4	1695	4	INADL	1	62274164	Nonsense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08	48165400	62274164	186976457	4	76054											
CD1E	913	broad.mit.edu	37	chr1	158324402	158324402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttacagtcactgttccaGttatacttccatagttttat	11	17	4	9	0	1	0	1	0	0	0	3	0	3	0	2	0	3	3	2	0	6	8			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:158324402G>T	ENST00000368160.3	+	2	294	c.294G>T	c.(292-294)caG>caT	p.Q98H	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.Q98H|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368155.3_Missense_Mutation_p.Q98H|CD1E_ENST00000434258.1_Missense_Mutation_p.Q96H|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Q98H|CD1E_ENST00000368163.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368161.3_Missense_Mutation_p.Q98H	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	98					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACTGTTCCAGTTATACTTCC	0.458													4	63					1	1	1	0	T	158324402	G	T	158324402	3	4	396	1	0	0	0	0	1	0	0	0	3007	1020	36	4	300	4	CD1E	1	158324402	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	96050238	158324402	90926219	5	76055											
MYOC	4653	broad.mit.edu	37	chr1	171621695	171621695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggccagaagcagcagCtggacagctggcatctcagg	11	4	15	11	0	1	1	1	0	1	1	2	2	1	2	1	5	4	6	1	5	1	0	rs2234925	by1000genomes	TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:171621695C>A	ENST00000037502.5	-	1	116	c.57G>T	c.(55-57)caG>caT	p.Q19H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	19			Q -> H (in dbSNP:rs2234925).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAAGCAGCAGCTGGACAGCTG	0.587													10	38					0.000442599	0.000470262	1	0	A	171621695	C	A	171621695	3	1	396	1	0	0	0	0	1	0	0	0	10156	796	28	4	1469	4	MYOC	1	171621695	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08	13297293	171621695	77628926	6	76056											
TLR5	7100	broad.mit.edu	37	chr1	223285772	223285772	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctattagctgcgaggctaAaaaaggagagcgttttccct	12	10	11	8	2	0	1	0	0	0	1	1	3	1	1	1	2	4	4	1	2	5	5			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:223285772A>T	ENST00000540964.1	-	4	1063	c.602T>A	c.(601-603)tTt>tAt	p.F201Y	TLR5_ENST00000342210.6_Missense_Mutation_p.F201Y			O60602	TLR5_HUMAN	toll-like receptor 5	201					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGCGAGGCTAAAAAAGGAGAG	0.418													19	92					0	0	0	0	T	223285772	A	T	223285772	3	4	396	1	0	0	0	0	1	0	0	0	16048	14	1	5	1978	5	TLR5	1	223285772	Missense_Mutation	SNP	A	TCGA-DQ-7596-01A-11D-2229-08	51664077	223285772	25964849	7	76057											
TMEM63A	9725	broad.mit.edu	37	chr1	226059715	226059715	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaaagtcttgttgacctGaggaggaagtcgatgacaat	12	12	11	6	1	2	3	1	3	1	0	3	6	2	5	1	2	0	1	1	2	3	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:226059715G>C	ENST00000366835.3	-	5	575	c.305C>G	c.(304-306)tCa>tGa	p.S102*		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	102						integral to membrane|lysosomal membrane	nucleotide binding	p.S102*(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TTGTTGACCTGAGGAGGAAGT	0.438													4	68					0	0	0	0	C	226059715	G	C	226059715	4	2	396	1	0	0	0	0	0	1	0	0	16284	1294	45	2	2198	2	TMEM63A	1	226059715	Nonsense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	2773943	226059715	23190906	8	76058											
UBXN2A	165324	broad.mit.edu	37	chr2	24194237	24194237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagcctttttgaggaagctCagaaggttagttccaaatgt	12	13	10	6	0	1	2	1	1	0	1	2	3	2	3	2	2	2	3	2	2	5	5			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr2:24194237C>G	ENST00000309033.4	+	3	377	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	UBXN2A_ENST00000404924.1_Missense_Mutation_p.Q45E|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.Q45E	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	45										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TGAGGAAGCTCAGAAGGTTAG	0.338													9	110					0	0	0	0	G	24194237	C	G	24194237	3	3	396	1	0	0	0	0	1	0	0	0	17010	827	29	2	139	2	UBXN2A	2	24194237	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08		24194237	219005136	9	76059											
TGFBR2	7048	broad.mit.edu	37	chr3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccacgacccagaggccCgtctcacagcccagtgtgtg	8	5	13	15	2	1	1	1	0	1	1	2	3	1	2	4	2	1	0	4	2	0	0	rs104893810		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597													30	46					0	0	0	0	T	30732969	C	T	30732969	3	4	396	1	0	0	0	0	1	0	0	0	15916	652	23	1	1687	1	TGFBR2	3	30732969	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08		30732969	167289461	10	76060											
ZXDC	79364	broad.mit.edu	37	chr3	126189852	126189852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagggcaggtaaacctccGgtcatcgtcatgtttcctgc	8	10	11	12	2	2	0	2	0	0	0	5	1	4	0	3	3	2	3	3	3	2	2			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr3:126189852G>A	ENST00000389709.3	-	4	1209	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	ZXDC_ENST00000336332.5_Missense_Mutation_p.R386W	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	386					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GTAAACCTCCGGTCATCGTCA	0.458													12	62					0	0	0	0	A	126189852	G	A	126189852	3	1	396	1	0	0	0	0	1	0	0	0	18343	1115	39	1	1454	1	ZXDC	3	126189852	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	95456883	126189852	71832578	11	76061											
CPLX1	10815	broad.mit.edu	37	chr4	780459	780459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggcctgggcctcggcctCgcgctcctccttcttcttga	1	11	12	17	4	2	1	0	1	2	0	6	1	4	1	5	4	0	1	5	4	0	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr4:780459C>T	ENST00000304062.6	-	4	466	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	79					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCCTCGGCCTCGCGCTCCTCC	0.756													4	37					0	0	0	0	T	780459	C	T	780459	3	4	396	1	0	0	0	0	1	0	0	0	3834	893	31	1	173	1	CPLX1	4	780459	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08		780459	190373817	12	76062											
TRIO	7204	broad.mit.edu	37	chr5	14504698	14504698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagctacatcctggtcttaGaaatgtgcgtacacacctgg	10	10	9	12	1	1	1	0	0	1	1	2	1	2	1	3	2	4	2	3	2	4	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:14504698G>C	ENST00000344204.4	+	55	8632	c.8608G>C	c.(8608-8610)Gaa>Caa	p.E2870Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E2694Q|TRIO_ENST00000344135.5_Missense_Mutation_p.E369Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2870	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTGGTCTTAGAAATGTGCGT	0.562													11	219					0	0	0	0	C	14504698	G	C	14504698	3	2	396	1	0	0	0	0	1	0	0	0	16647	943	33	2	8826	2	TRIO	5	14504698	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		14504698	166410562	13	76063											
PIK3R1	5295	broad.mit.edu	37	chr5	67591125	67591129	+	Frame_Shift_Del	DEL	TGAGA	TGAGA	-																															taaaccagaccttatccagcTgagaaagacgagagaccaat																										TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:67591125_67591129delTGAGA	ENST00000521381.1	+	13	2334_2338	c.1718_1722delTGAGA	c.(1717-1722)cfs	p.LR573fs	PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.LR210fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.LR273fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.LR303fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.LR573fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	573					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L573P(2)|p.L303P(2)|p.R574T(2)|p.R574_T576del(2)|p.L273P(2)|p.L570_D578del(1)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.R574I(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTTATCCAGCTGAGAAAGACGAGAG	0.38			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			13	121	---	---	---	---					-	67591129	TGAGA	-	67591125	7	5	396	1	0	1	0	1	0	0	0	0	11990	1580	55	0	1894	0	PIK3R1	5	67591125	Frame_Shift_Del	DEL	TGAGA	TCGA-DQ-7596-01A-11D-2229-08	53086427	67591125	113324135	14	76064											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687053	148687053	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcagccccgacaccagtgGccctcagaggaggcctccat	8	4	11	18	2	1	1	1	0	0	1	2	3	2	2	7	3	1	1	7	3	0	0			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:148687053G>A	ENST00000296721.4	+	7	722	c.624G>A	c.(622-624)tgG>tgA	p.W208*	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Nonsense_Mutation_p.W208*	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	208							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACCAGTGGCCCTCAGAGG	0.592													8	74					0	0	0	0	A	148687053	G	A	148687053	4	1	396	1	0	0	0	0	0	1	0	0	354	1212	42	4	650	4	AFAP1L1	5	148687053	Nonsense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	81095928	148687053	32228207	15	76065											
ATP10B	23120	broad.mit.edu	37	chr5	159992577	159992577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccagcaggtgctccccGgatgagagttgagctgagga	8	7	16	10	1	0	3	0	3	0	1	2	6	2	5	3	4	3	4	3	4	0	1	rs112214351		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:159992577G>A	ENST00000327245.5	-	26	5115	c.4269C>T	c.(4267-4269)tcC>tcT	p.S1423S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1423					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCTCCCCGGATGAGAGTT	0.557													25	124					0	0	0	0	A	159992577	G	A	159992577	2	1	396	1	0	0	0	0	0	0	0	1	1121	1103	39	1		1	ATP10B	5	159992577	Silent	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	11305524	159992577	20922683	16	76066											
BTNL8	79908	broad.mit.edu	37	chr5	180335804	180335804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggacaaaactggtgaagGattctattgcggaggggcgc	11	7	16	7	2	1	1	0	1	1	0	1	4	1	4	0	6	2	1	0	6	4	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:180335804G>T	ENST00000231229.4	+	2	502	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	BTNL8_ENST00000340184.4_Missense_Mutation_p.D90Y|BTNL8_ENST00000508408.1_Missense_Mutation_p.D90Y|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	90	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGGTGAAGGATTCTATTGC	0.527													9	237					0.000274275	0.000296043	1	0	T	180335804	G	T	180335804	3	4	396	1	0	0	0	0	1	0	0	0	1576	1174	41	2	300	2	BTNL8	5	180335804	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	20343227	180335804	579456	17	76067											
TRIM7	81786	broad.mit.edu	37	chr5	180631987	180631987	+	Frame_Shift_Del	DEL	C	C	-																															gaagctgtggccgcactcgaCggacaccggctcacgaaaga																										TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:180631987delC	ENST00000274773.7	-	1	185	c.124delG	c.(124-126)tcfs	p.V42fs	TRIM7_ENST00000334421.5_Frame_Shift_Del_p.V42fs	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	42						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCGCACTCGACGGACACCGGC	0.746													2	4	---	---	---	---					-	180631987	C	-	180631987	7	5	396	1	0	1	0	1	0	0	0	0	16638	536	19	0	1559	0	TRIM7	5	180631987	Frame_Shift_Del	DEL	C	TCGA-DQ-7596-01A-11D-2229-08	296183	180631987	283273	18	76068											
ENPP1	5167	broad.mit.edu	37	chr6	132181556	132181556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagaatctcatggcataatCgacaataaaatgtatgatcc	16	10	6	9	1	1	2	1	1	1	1	4	3	2	2	2	1	0	2	2	1	6	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr6:132181556C>T	ENST00000360971.2	+	8	845	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	275	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGGCATAATCGACAATAAAA	0.303													4	13					0	0	0	0	T	132181556	C	T	132181556	2	4	396	1	0	0	0	0	0	0	0	1	5167	874	31	1		1	ENPP1	6	132181556	Silent	SNP	C	TCGA-DQ-7596-01A-11D-2229-08		132181556	38933511	19	76069											
SDK1	221935	broad.mit.edu	37	chr7	4304762	4304762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgctccccgcaggccacgGactctgactacgaggacgcg	7	4	12	18	6	1	1	0	1	1	0	2	4	2	3	4	3	1	2	4	3	1	1			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:4304762G>A	ENST00000404826.2	+	45	6527	c.6388G>A	c.(6388-6390)Gac>Aac	p.D2130N	SDK1_ENST00000389531.3_Missense_Mutation_p.D2110N|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2130					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCAGGCCACGGACTCTGACTA	0.687													3	22					0	0	0	0	A	4304762	G	A	4304762	3	1	396	1	0	0	0	0	1	0	0	0	14055	1174	41	2	6566	2	SDK1	7	4304762	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		4304762	154833901	20	76070											
NOD1	10392	broad.mit.edu	37	chr7	30486608	30486608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcgtgaggcctttgcattCatccaggattttggtgacgt	7	14	12	8	2	1	2	1	2	0	0	2	3	2	3	2	3	2	1	2	3	0	4			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:30486608C>T	ENST00000222823.4	-	8	2869	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	782					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCTTTGCATTCATCCAGGATT	0.453													7	82					0	0	0	0	T	30486608	C	T	30486608	3	4	396	1	0	0	0	0	1	0	0	0	10586	835	29	2	545	2	NOD1	7	30486608	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08	26181846	30486608	128652055	21	76071											
FKBP9	11328	broad.mit.edu	37	chr7	33020103	33020103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcggataagtcaaagTggggactttctcaggtatca	11	11	13	6	1	3	1	3	1	1	0	4	3	3	3	0	4	1	1	0	4	3	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:33020103T>G	ENST00000242209.4	+	5	1000	c.831T>G	c.(829-831)agT>agG	p.S277R	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.S330R|FKBP9_ENST00000490776.2_Missense_Mutation_p.S45R|FKBP9_ENST00000538443.1_Missense_Mutation_p.S139R|FKBP9_ENST00000489038.1_3'UTR	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	277					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TAAGTCAAAGTGGGGACTTTC	0.428													8	176					0	0	0	0	G	33020103	T	G	33020103	3	3	396	1	0	0	0	0	1	0	0	0	5960	1693	59	5	849	5	FKBP9	7	33020103	Missense_Mutation	SNP	T	TCGA-DQ-7596-01A-11D-2229-08	2533495	33020103	126118560	22	76072											
KLRG2	346689	broad.mit.edu	37	chr7	139164979	139164979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtacagggacttcaCgtacatgggtagccctggga	9	7	14	11	1	1	0	1	0	0	0	1	2	1	2	2	4	3	3	2	4	3	4			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:139164979C>T	ENST00000340940.4	-	2	841	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	258						integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					AGGGACTTCACGTACATGGGT	0.567													7	49					0	0	0	0	T	139164979	C	T	139164979	3	4	396	1	0	0	0	0	1	0	0	0	8474	536	19	1	473	1	KLRG2	7	139164979	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08	106144876	139164979	19973684	23	76073											
AGK	55750	broad.mit.edu	37	chr7	141315327	141315327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggagagaccagtagtttGagtcataccctctttgccga	9	11	11	10	1	2	2	1	1	1	1	2	5	2	3	3	1	2	2	3	1	2	4			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:141315327G>C	ENST00000355413.4	+	8	740	c.480G>C	c.(478-480)ttG>ttC	p.L160F	AGK_ENST00000535825.1_Missense_Mutation_p.L157F|AGK_ENST00000473247.1_Missense_Mutation_p.L132F	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	160	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CCAGTAGTTTGAGTCATACCC	0.433													8	196					0	0	0	0	C	141315327	G	C	141315327	3	2	396	1	0	0	0	0	1	0	0	0	383	1281	45	2	506	2	AGK	7	141315327	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	2150348	141315327	17823336	24	76074											
NCOA2	10499	broad.mit.edu	37	chr8	71069384	71069384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccactgcacagggcctGatgggcagggctgttagagc	7	8	15	11	0	0	2	0	1	0	1	1	2	1	2	2	3	2	5	2	3	1	2			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr8:71069384G>T	ENST00000452400.2	-	11	1397	c.1216C>A	c.(1216-1218)Cag>Aag	p.Q406K		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	406					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CACAGGGCCTGATGGGCAGGG	0.498			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								6	46					0.00198382	0.00207538	1	0	T	71069384	G	T	71069384	3	4	396	1	0	0	0	0	1	0	0	0	10299	1299	45	2	3230	2	NCOA2	8	71069384	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		71069384	75294638	25	76075											
CHRAC1	54108	broad.mit.edu	37	chr8	141525224	141525224	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtacgctttatgtttttaaGatatattaccaaagaagatt	14	17	6	4	1	0	3	0	0	0	3	0	3	0	3	1	0	2	3	1	0	8	10			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr8:141525224G>A	ENST00000220913.5	+	3	476		c.e3-1		CHRAC1_ENST00000519533.1_Splice_Site	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1						chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			ATGTTTTTAAGATATATTACC	0.333													6	88					0	0	0	0	A	141525224	G	A	141525224	5	1	396	1	0	0	0	0	0	0	1	0	3400	956	33	2	284	2	CHRAC1	8	141525224	Splice_Site	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	70455840	141525224	4838798	26	76076											
DAPK1	1612	broad.mit.edu	37	chr9	90321375	90321375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgtatggtggcgtgcGcatcgtgcccgtggaacacc	6	9	16	10	4	0	0	0	0	0	0	1	2	0	1	2	4	3	2	2	4	2	1			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr9:90321375G>A	ENST00000469640.2	+	27	3839	c.3464G>A	c.(3463-3465)cGc>cAc	p.R1155H	DAPK1_ENST00000472284.1_Missense_Mutation_p.R1130H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1130H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R1064H|DAPK1_ENST00000408954.3_Missense_Mutation_p.R1130H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1130					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGTGGCGTGCGCATCGTGCCC	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of				3	31					0	0	0	0	A	90321375	G	A	90321375	3	1	396	1	0	0	0	0	1	0	0	0	4268	1087	38	1	3487	1	DAPK1	9	90321375	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		90321375	50892056	27	76077											
PTPN3	5774	broad.mit.edu	37	chr9	112166752	112166752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggatcagcaccgtcccGctttcgaggcccttctttag	7	11	9	14	3	2	0	1	0	1	0	4	2	3	1	3	2	2	2	3	2	2	4			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr9:112166752G>A	ENST00000412145.1	-	14	4089	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000374541.2_Silent_p.S643S|PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000446349.1_Silent_p.S467S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	643	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572													5	58					0	0	0	0	A	112166752	G	A	112166752	2	1	396	1	0	0	0	0	0	0	0	1	12871	1078	38	1		1	PTPN3	9	112166752	Silent	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	21845377	112166752	29046679	28	76078											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076681	57076681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctggacacttccaagttCctgagacccagctggtcagt	9	9	10	13	0	1	1	1	1	0	1	3	3	3	2	3	2	2	3	3	2	1	2			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr11:57076681C>T	ENST00000532437.1	-	5	3815	c.3504G>A	c.(3502-3504)agG>agA	p.R1168R	TNKS1BP1_ENST00000358252.3_Silent_p.R1168R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1168	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTTCCAAGTTCCTGAGACCCA	0.607													5	101					0	0	0	0	T	57076681	C	T	57076681	2	4	396	1	0	0	0	0	0	0	0	1	16414	854	30	2		2	TNKS1BP1	11	57076681	Silent	SNP	C	TCGA-DQ-7596-01A-11D-2229-08		57076681	77929835	29	76079											
OSBPL8	114882	broad.mit.edu	37	chr12	76786408	76786408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagcacgtagtaagccataGaaagtcacatgtgtgctatc	13	11	9	8	1	1	1	1	0	0	1	2	1	1	1	1	0	3	4	1	0	6	5			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr12:76786408G>C	ENST00000261183.3	-	10	1361	c.882C>G	c.(880-882)ttC>ttG	p.F294L	OSBPL8_ENST00000393249.2_Missense_Mutation_p.F252L|OSBPL8_ENST00000393250.4_Missense_Mutation_p.F252L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	294					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GTAAGCCATAGAAAGTCACAT	0.413													5	81					0	0	0	0	C	76786408	G	C	76786408	3	2	396	1	0	0	0	0	1	0	0	0	11354	933	33	2	1847	2	OSBPL8	12	76786408	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		76786408	57065487	30	76080											
SPG11	80208	broad.mit.edu	37	chr15	44864886	44864886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtcaataacttactgcaaGacagttccccatggggaacg	13	8	10	10	1	1	1	1	0	0	1	2	2	2	2	2	3	4	2	2	3	5	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr15:44864886G>C	ENST00000261866.7	-	33	6354	c.6338C>G	c.(6337-6339)tCt>tGt	p.S2113C	SPG11_ENST00000535302.2_Missense_Mutation_p.S2000C|SPG11_ENST00000427534.2_Missense_Mutation_p.S2113C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2113					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTTACTGCAAGACAGTTCCCC	0.453													12	79					0	0	0	0	C	44864886	G	C	44864886	3	2	396	1	0	0	0	0	1	0	0	0	15131	942	33	2	1025	2	SPG11	15	44864886	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		44864886	57666506	31	76081											
DEF8	54849	broad.mit.edu	37	chr16	90025437	90025437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggaccccaatgaggatGagccaaacatccgagtgctc	12	6	11	12	1	0	2	0	2	0	0	2	5	1	4	4	2	4	2	4	2	2	0			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr16:90025437G>A	ENST00000563594.1	+	6	1385	c.388G>A	c.(388-390)Gag>Aag	p.E130K	DEF8_ENST00000567874.1_Missense_Mutation_p.E70K|DEF8_ENST00000570182.1_Missense_Mutation_p.E120K|DEF8_ENST00000268676.7_Missense_Mutation_p.E191K|DEF8_ENST00000563795.1_Missense_Mutation_p.E130K|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000569453.1_Missense_Mutation_p.E130K|DEF8_ENST00000418391.2_Missense_Mutation_p.E130K	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	191					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAATGAGGATGAGCCAAACAT	0.542													11	153					0	0	0	0	A	90025437	G	A	90025437	3	1	396	1	0	0	0	0	1	0	0	0	4419	1291	45	2	589	2	DEF8	16	90025437	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		90025437	329316	32	76082											
GEMIN4	50628	broad.mit.edu	37	chr17	650236	650236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggaagtcagactgtcGcacagccggtagctgtcgta	10	8	13	10	3	1	2	1	1	0	1	3	3	1	3	1	2	2	4	1	2	4	2			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr17:650236G>C	ENST00000576778.1	-	1	2355	c.1014C>G	c.(1012-1014)tgC>tgG	p.C338W	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Missense_Mutation_p.C349W			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	349					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGACTGTCGCACAGCCGGT	0.642													25	78					0	0	0	0	C	650236	G	C	650236	3	2	396	1	0	0	0	0	1	0	0	0	6381	1079	38	3	2133	3	GEMIN4	17	650236	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		650236	80544974	33	76083											
SBNO2	22904	broad.mit.edu	37	chr19	1123582	1123582	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgccccagctcctcCgcctcctcctcctcagcctc	2	11	6	22	1	2	0	1	0	1	0	8	0	7	0	9	0	3	1	9	0	0	0			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr19:1123582C>T	ENST00000361757.3	-	7	816	c.579G>A	c.(577-579)gcG>gcA	p.A193A	SBNO2_ENST00000438103.2_Silent_p.A136A|SBNO2_ENST00000587024.1_Silent_p.A193A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	193	Poly-Glu.				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CCAGctcctccgcctcctcct	0.662													3	20					0	0	0	0	T	1123582	C	T	1123582	2	4	396	1	0	0	0	0	0	0	0	1	13949	639	23	1		1	SBNO2	19	1123582	Silent	SNP	C	TCGA-DQ-7596-01A-11D-2229-08		1123582	58005401	34	76084											
ZNF99	7652	broad.mit.edu	37	chr19	22940555	22940555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatctcatgttttctaagaGttgaggactggctaaaagct	11	15	9	6	0	2	2	1	1	2	1	3	3	2	3	0	2	1	4	0	2	4	6			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr19:22940555G>A	ENST00000397104.3	-	5	1882	c.1883C>T	c.(1882-1884)aCt>aTt	p.T628I	ZNF99_ENST00000596209.1_Missense_Mutation_p.T719I					zinc finger protein 99									p.T628N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTTCTAAGAGTTGAGGACTG	0.358													17	60					0	0	0	0	A	22940555	G	A	22940555	3	1	396	1	0	0	0	0	1	0	0	0	18297	1029	36	4	1241	4	ZNF99	19	22940555	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08	21816973	22940555	36188428	35	76085											
CEACAM7	1087	broad.mit.edu	37	chr19	42190921	42190921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattggggtatattgtctctCgaccgttgtgtgcgggccct	4	14	13	10	3	1	0	0	0	1	0	3	1	1	0	2	3	1	2	2	3	2	5			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr19:42190921C>T	ENST00000006724.3	-	2	497	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	CEACAM7_ENST00000401731.1_Missense_Mutation_p.R99Q|CEACAM7_ENST00000338196.4_Missense_Mutation_p.R99Q|CEACAM7_ENST00000602225.1_Missense_Mutation_p.R99Q|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	99	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TATTGTCTCTCGACCGTTGTG	0.433													11	282					0	0	0	0	T	42190921	C	T	42190921	3	4	396	1	0	0	0	0	1	0	0	0	3226	884	31	1	513	1	CEACAM7	19	42190921	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08	19250366	42190921	16938062	36	76086											
ASXL1	171023	broad.mit.edu	37	chr20	31023282	31023282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaacacataccatctgttGagccccaggttggagaggag	12	7	13	9	0	1	3	0	1	1	2	1	6	1	4	3	3	3	2	3	3	2	3			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr20:31023282G>C	ENST00000375687.4	+	13	3191	c.2767G>C	c.(2767-2769)Gag>Cag	p.E923Q	ASXL1_ENST00000306058.5_Missense_Mutation_p.E918Q	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	923					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACCATCTGTTGAGCCCCAGGT	0.512			"F, N, Mis"		"MDS, CMML"								4	68					0	0	0	0	C	31023282	G	C	31023282	3	2	396	1	0	0	0	0	1	0	0	0	1070	1291	45	2	2823	2	ASXL1	20	31023282	Missense_Mutation	SNP	G	TCGA-DQ-7596-01A-11D-2229-08		31023282	32002238	37	76087											
HUWE1	10075	broad.mit.edu	37	chrX	53563554	53563554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatagggttaaacatctctCgagagatgatcatataccac	15	10	7	9	1	2	2	1	1	1	1	4	4	2	2	1	1	2	1	1	1	5	4			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chrX:53563554C>T	ENST00000342160.3	-	78	12669	c.12212G>A	c.(12211-12213)cGa>cAa	p.R4071Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4071Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4071	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAACATCTCTCGAGAGATGAT	0.483													6	53					0	0	0	0	T	53563554	C	T	53563554	3	4	396	1	0	0	0	0	1	0	0	0	7514	884	31	1	936	1	HUWE1	23	53563554	Missense_Mutation	SNP	C	TCGA-DQ-7596-01A-11D-2229-08		53563554	101707006	38	76088											
MEGF6	1953	broad.mit.edu	37	chr1	3418409	3418409	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggacaccggcactgcccCgtgaccccgtggcagggggc	5	3	17	16	4	0	1	0	1	0	0	0	2	0	2	5	6	1	2	5	6	0	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:3418409C>G	ENST00000356575.4	-	18	2491	c.2265G>C	c.(2263-2265)acG>acC	p.T755T	MEGF6_ENST00000294599.4_Silent_p.T650T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	755	EGF-like 12.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGCACTGCCCCGTGACCCCGT	0.706													8	16					0	0	0	0	G	3418409	C	G	3418409	2	3	397	1	0	0	0	0	0	0	0	1	9531	639	23	3		3	MEGF6	1	3418409	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08		3418409	245832212	1	76089											
PER3	8863	broad.mit.edu	37	chr1	7895935	7895935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacatttcctaatgtcgccGaagagcccatctggagaatg	13	9	9	10	2	1	2	0	0	1	2	3	4	2	2	3	1	2	0	3	1	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:7895935G>A	ENST00000377532.3	+	19	3552	c.3328G>A	c.(3328-3330)Gaa>Aaa	p.E1110K	PER3_ENST00000361923.2_Missense_Mutation_p.E1101K			P56645	PER3_HUMAN	period circadian clock 3	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAATGTCGCCGAAGAGCCCAT	0.418													13	42					0	0	0	0	A	7895935	G	A	7895935	3	1	397	1	0	0	0	0	1	0	0	0	11802	1059	37	1	3375	1	PER3	1	7895935	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	4477526	7895935	241354686	2	76090											
RIMS3	9783	broad.mit.edu	37	chr1	41094945	41094945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttccaaaatccctcacctGggagggatttggagcctggt	9	11	11	10	0	1	0	1	0	0	0	3	3	3	3	4	4	1	0	4	4	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:41094945G>C	ENST00000372684.3	-	6	1041	c.572C>G	c.(571-573)cCa>cGa	p.P191R	RIMS3_ENST00000372683.1_Missense_Mutation_p.P191R	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	191	C2.				neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TCCCTCACCTGGGAGGGATTT	0.592													13	53					0	0	0	0	C	41094945	G	C	41094945	3	2	397	1	0	0	0	0	1	0	0	0	13454	1348	47	4	366	4	RIMS3	1	41094945	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	33199010	41094945	208155676	3	76091											
RNF220	55182	broad.mit.edu	37	chr1	44878355	44878355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctggcctcatttctgatCgggaagcctcatctagccca	7	12	8	14	1	5	1	2	1	3	0	7	2	5	2	3	2	2	0	3	2	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:44878355C>T	ENST00000355387.2	+	2	1036	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	RNF220_ENST00000372247.2_Missense_Mutation_p.R196W|RNF220_ENST00000361799.2_Missense_Mutation_p.R196W			Q5VTB9	RN220_HUMAN	ring finger protein 220	196					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CATTTCTGATCGGGAAGCCTC	0.512													22	60					0	0	0	0	T	44878355	C	T	44878355	3	4	397	1	0	0	0	0	1	0	0	0	13568	875	31	1	588	1	RNF220	1	44878355	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	3783410	44878355	204372266	4	76092											
DAB1	1600	broad.mit.edu	37	chr1	57610988	57610988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatcatggaatcttgaCataacttgtctccccgagct	9	14	7	11	1	4	1	2	1	2	0	5	3	4	2	2	1	2	2	2	1	2	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:57610988C>T	ENST00000371236.2	-	3	445	c.182G>A	c.(181-183)tGt>tAt	p.C61Y	DAB1_ENST00000371230.1_Missense_Mutation_p.C61Y|DAB1_ENST00000414851.2_Missense_Mutation_p.C61Y|DAB1_ENST00000439789.2_Missense_Mutation_p.C61Y|DAB1_ENST00000371234.4_Missense_Mutation_p.C61Y|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.C61Y|DAB1_ENST00000371231.1_Missense_Mutation_p.C61Y			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	61	PID.				cell differentiation|nervous system development			p.C61F(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						GGAATCTTGACATAACTTGTC	0.393													17	60					0	0	0	0	T	57610988	C	T	57610988	3	4	397	1	0	0	0	0	1	0	0	0	4250	478	17	4	1533	4	DAB1	1	57610988	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	12732633	57610988	191639633	5	76093											
PGM1	5236	broad.mit.edu	37	chr1	64100692	64100693	+	Splice_Site	INS	-	-	G																															gcctttgatggagatggggtINSgggtataagtgcatttaagt																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:64100692_64100693insG	ENST00000371083.4	+	5	1295		c.e5+2		PGM1_ENST00000540265.1_Splice_Site|PGM1_ENST00000371084.3_Splice_Site	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1						cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAGATGGGGTGGGTATAAGTG	0.545													31	94	---	---	---	---					G	64100693	-	G	64100692	8	5	397	1	0	1	1	0	0	0	1	0	11869	1710	59	0	1197	0	PGM1	1	64100692	Splice_Site	INS	-	TCGA-F7-7848-01A-11D-2129-08	6489704	64100692	185149929	6	76094											
IL12RB2	3595	broad.mit.edu	37	chr1	67861293	67861293	+	Missense_Mutation	SNP	C	C	A																															ccacgcctgaagatcctgaaCcgctggtcatcagtgaagtc																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:67861293C>A	ENST00000262345.1	+	16	2750	c.2110C>A	c.(2110-2112)Ccg>Acg	p.P704T	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P618T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	704					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGATCCTGAACCGCTGGTCAT	0.537													15	51					2.31682e-05	2.49376e-05	1	0	A	67861293	C	A	67861293	3	1	397	1	0	0	0	0	1	0	0	0	7680	507	18	4	2168	4	IL12RB2	1	67861293	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	3760601	67861293	181389328	7	76095	1019	2									
IL12RB2	3595	broad.mit.edu	37	chr1	67861294	67861294	+	Missense_Mutation	SNP	C	C	A																															cacgcctgaagatcctgaacCgctggtcatcagtgaagtcc																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:67861294C>A	ENST00000262345.1	+	16	2751	c.2111C>A	c.(2110-2112)cCg>cAg	p.P704Q	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P618Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	704					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GATCCTGAACCGCTGGTCATC	0.542													15	50					2.31682e-05	2.49376e-05	1	0	A	67861294	C	A	67861294	3	1	397	1	0	0	0	0	1	0	0	0	7680	652	23	3	2169	3	IL12RB2	1	67861294	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1	67861294	181389327	8	76096	1019	2									
IFI44L	10964	broad.mit.edu	37	chr1	79093945	79093945	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgagcaactggtgtgtcgTttatcgaaaacggatatttt	11	14	11	5	3	0	1	0	1	0	0	2	4	0	2	0	2	3	2	0	2	5	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:79093945T>C	ENST00000370751.4	+	2	524	c.345T>C	c.(343-345)cgT>cgC	p.R115R	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	115						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGGTGTGTCGTTTATCGAAAA	0.313													12	30					0	0	0	0	C	79093945	T	C	79093945	2	2	397	1	0	0	0	0	0	0	0	1	7571	1712	60	5		5	IFI44L	1	79093945	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	11232651	79093945	170156676	9	76097											
ELTD1	64123	broad.mit.edu	37	chr1	79385874	79385874	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgcctacataccttattAgtatttgtattgatcccaac	11	15	6	9	0	0	1	0	1	0	0	1	2	1	2	3	1	4	2	3	1	7	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:79385874A>T	ENST00000370742.3	-	10	1518	c.1455T>A	c.(1453-1455)acT>acA	p.T485T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	485					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		ATACCTTATTAGTATTTGTAT	0.313													12	38					0	0	0	0	T	79385874	A	T	79385874	2	4	397	1	0	0	0	0	0	0	0	1	5122	407	15	5		5	ELTD1	1	79385874	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	291929	79385874	169864747	10	76098											
COL24A1	255631	broad.mit.edu	37	chr1	86210435	86210435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaggattcttgatgctgTgcaataaattgctaaggtag	13	12	11	5	0	1	2	0	1	1	1	1	3	1	3	0	2	3	4	0	2	6	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:86210435T>C	ENST00000370571.2	-	57	4952	c.4586A>G	c.(4585-4587)cAc>cGc	p.H1529R	COL24A1_ENST00000436319.1_Missense_Mutation_p.H1508R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1529	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGATGCTGTGCAATAAATT	0.388													21	63					0	0	0	0	C	86210435	T	C	86210435	3	2	397	1	0	0	0	0	1	0	0	0	3713	1696	59	5	574	5	COL24A1	1	86210435	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	6824561	86210435	163040186	11	76099											
PKN2	5586	broad.mit.edu	37	chr1	89271325	89271325	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgccagtggttgatgtAcgcatccctcaactagcacc	10	9	9	13	1	1	1	1	1	0	0	2	1	2	1	3	1	4	4	3	1	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:89271325A>T	ENST00000370521.3	+	11	2006	c.1647A>T	c.(1645-1647)gtA>gtT	p.V549V	PKN2_ENST00000370513.5_Silent_p.V501V|PKN2_ENST00000370505.3_Silent_p.V392V|PKN2_ENST00000544045.1_Silent_p.V223V|PKN2_ENST00000316005.7_Silent_p.V549V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	549					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGGTTGATGTACGCATCCCTC	0.448													9	26					0	0	0	0	T	89271325	A	T	89271325	2	4	397	1	0	0	0	0	0	0	0	1	12052	378	14	5		5	PKN2	1	89271325	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	3060890	89271325	159979296	12	76100											
ABCD3	5825	broad.mit.edu	37	chr1	94964203	94964203	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggtccaaatggctgcGgaaagagttcacttttccgt	8	14	11	8	2	1	1	1	0	0	1	3	2	3	2	2	3	1	2	2	3	2	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:94964203G>T	ENST00000370214.4	+	17	1456	c.1432G>T	c.(1432-1434)Gga>Tga	p.G478*	ABCD3_ENST00000536817.1_Nonsense_Mutation_p.G405*|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Nonsense_Mutation_p.G368*|ABCD3_ENST00000454898.2_Nonsense_Mutation_p.G502*	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	478	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAATGGCTGCGGAAAGAGTTC	0.343													13	41					1.5842e-08	1.89014e-08	1	0	T	94964203	G	T	94964203	4	4	397	1	0	0	0	0	0	1	0	0	62	1117	39	3	1529	3	ABCD3	1	94964203	Nonsense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	5692878	94964203	154286418	13	76101											
OLFM3	118427	broad.mit.edu	37	chr1	102290738	102290738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgattaacttagcatCtgttttgtactgttccagca	8	16	9	8	0	1	1	0	1	1	0	2	1	2	1	1	1	4	5	1	1	3	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:102290738C>A	ENST00000370103.4	-	4	649	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	OLFM3_ENST00000359814.3_Missense_Mutation_p.D166Y|OLFM3_ENST00000536598.1_Missense_Mutation_p.D71Y|OLFM3_ENST00000338858.5_Missense_Mutation_p.D166Y|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	166						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AACTTAGCATCTGTTTTGTAC	0.448													5	30					0.217242	0.217725	1	0	A	102290738	C	A	102290738	3	1	397	1	0	0	0	0	1	0	0	0	10925	913	32	2	952	2	OLFM3	1	102290738	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	7326535	102290738	146959883	14	76102											
COL11A1	1301	broad.mit.edu	37	chr1	103354181	103354181	+	Silent	SNP	G	G	T																															ctgtcacctttctggccagcGggtccctgttagaaagaaga																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:103354181G>T	ENST00000358392.2	-	62	4913	c.4596C>A	c.(4594-4596)ccC>ccA	p.P1532P	COL11A1_ENST00000353414.4_Silent_p.P1481P|COL11A1_ENST00000512756.1_Silent_p.P1404P|COL11A1_ENST00000370096.3_Silent_p.P1520P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1520	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTGGCCAGCGGGTCCCTGTT	0.418													9	47					1.49906e-05	1.63699e-05	1	0	T	103354181	G	T	103354181	2	4	397	1	0	0	0	0	0	0	0	1	3697	1103	39	3		3	COL11A1	1	103354181	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1063443	103354181	145896440	15	76103	1020	2									
COL11A1	1301	broad.mit.edu	37	chr1	103354182	103354182	+	Missense_Mutation	SNP	G	G	T																															tgtcacctttctggccagcgGgtccctgttagaaagaagag																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:103354182G>T	ENST00000358392.2	-	62	4912	c.4595C>A	c.(4594-4596)cCc>cAc	p.P1532H	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1481H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1404H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1520H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1520	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGCCAGCGGGTCCCTGTTA	0.413													9	48					1.49906e-05	1.63699e-05	1	0	T	103354182	G	T	103354182	3	4	397	1	0	0	0	0	1	0	0	0	3697	1232	43	4	885	4	COL11A1	1	103354182	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1	103354182	145896439	16	76104	1020	2									
DDX20	11218	broad.mit.edu	37	chr1	112305593	112305593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatgatgatgagaattGcccagaaatgtaatatcaac	19	10	7	5	0	1	4	1	3	0	2	1	5	1	4	1	0	2	1	1	0	8	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:112305593G>C	ENST00000475700.1	+	2	2458	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P	DDX20_ENST00000369702.4_Missense_Mutation_p.A426P|DDX20_ENST00000536167.1_3'UTR			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	426					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGAATTGCCCAGAAATG	0.353													11	43					0	0	0	0	C	112305593	G	C	112305593	3	2	397	1	0	0	0	0	1	0	0	0	4380	1319	46	4	1314	4	DDX20	1	112305593	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	8951411	112305593	136945028	17	76105											
IVL	3713	broad.mit.edu	37	chr1	152883955	152883955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaaccagccctgcccaCaaagggagaagtattgcttc	12	8	8	13	0	1	1	1	0	0	1	2	2	1	1	3	1	4	2	3	1	4	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:152883955C>G	ENST00000368764.3	+	2	1746	c.1682C>G	c.(1681-1683)aCa>aGa	p.T561R	IVL_ENST00000392667.2_Missense_Mutation_p.T415R			P07476	INVO_HUMAN	involucrin	561					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCTGCCCACAAAGGGAGAA	0.592													14	44					0	0	0	0	G	152883955	C	G	152883955	3	3	397	1	0	0	0	0	1	0	0	0	7982	478	17	4	1684	4	IVL	1	152883955	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	40578362	152883955	96366666	18	76106											
DENND4B	9909	broad.mit.edu	37	chr1	153914360	153914360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgcttccaagggtaggCggtgggggcctgagacggag	7	6	18	10	3	1	1	1	1	0	1	2	3	2	2	2	6	0	2	2	6	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:153914360C>G	ENST00000361217.4	-	6	1458	c.1040G>C	c.(1039-1041)cGc>cCc	p.R347P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	347	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGTAGGCGGTGGGGGCC	0.632													10	29					0	0	0	0	G	153914360	C	G	153914360	3	3	397	1	0	0	0	0	1	0	0	0	4471	768	27	3	3542	3	DENND4B	1	153914360	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1030405	153914360	95336261	19	76107											
FCRL3	115352	broad.mit.edu	37	chr1	157659664	157659664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctgagcaccagcccCgtgattcccgcagcggtaag	9	6	13	13	3	0	2	0	2	0	0	1	3	1	3	4	2	4	4	4	2	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:157659664C>T	ENST00000368184.3	-	10	2025	c.1734G>A	c.(1732-1734)acG>acA	p.T578T	FCRL3_ENST00000368186.5_Silent_p.T578T|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	578						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCACCAGCCCCGTGATTCCCG	0.562													9	44					0	0	0	0	T	157659664	C	T	157659664	2	4	397	1	0	0	0	0	0	0	0	1	5841	639	23	1		1	FCRL3	1	157659664	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	3745304	157659664	91590957	20	76108											
UAP1	6675	broad.mit.edu	37	chr1	162557316	162557316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggagtggtttgccgagtgGatggagtttaccaggtggta	7	13	17	4	1	0	0	0	0	0	0	0	4	0	3	2	6	2	3	2	6	2	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:162557316G>A	ENST00000271469.3	+	6	1188	c.886G>A	c.(886-888)Gat>Aat	p.D296N	UAP1_ENST00000367925.1_Missense_Mutation_p.D296N|UAP1_ENST00000367926.4_Missense_Mutation_p.D296N|UAP1_ENST00000367924.1_Missense_Mutation_p.D296N			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	296					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTGCCGAGTGGATGGAGTTTA	0.463													43	108					0	0	0	0	A	162557316	G	A	162557316	3	1	397	1	0	0	0	0	1	0	0	0	16921	1174	41	2	904	2	UAP1	1	162557316	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	4897652	162557316	86693305	21	76109											
NUF2	83540	broad.mit.edu	37	chr1	163317627	163317627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactgaagaaaattcgttCaaaagactgatgattgtgaa	18	10	9	4	1	1	7	1	4	0	3	2	7	1	7	0	0	0	1	0	0	7	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000524800.1_Silent_p.F294F|NUF2_ENST00000367900.3_Silent_p.F341F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338													10	39					0	0	0	0	T	163317627	C	T	163317627	2	4	397	1	0	0	0	0	0	0	0	1	10818	825	29	2		2	NUF2	1	163317627	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	760311	163317627	85932994	22	76110											
PAPPA2	60676	broad.mit.edu	37	chr1	176671756	176671756	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacagggaggtcacacctGgacagatgtatcagtaccaa	13	7	10	11	0	2	1	2	0	0	1	3	3	3	3	3	3	1	2	3	3	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176671756G>T	ENST00000367662.3	+	9	4414	c.3250G>T	c.(3250-3252)Gga>Tga	p.G1084*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1084					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCACACCTGGACAGATGTA	0.502													10	32					0.00621372	0.00638357	1	0	T	176671756	G	T	176671756	4	4	397	1	0	0	0	0	0	1	0	0	11504	1349	47	4	3333	4	PAPPA2	1	176671756	Nonsense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	13354129	176671756	72578865	23	76111											
PAPPA2	60676	broad.mit.edu	37	chr1	176675542	176675542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaccttgtgagcggagatgGctgctccaaggtgtgtgagc	8	9	16	8	1	0	4	0	2	0	2	1	5	1	4	2	3	3	2	2	3	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176675542G>C	ENST00000367662.3	+	10	4577	c.3413G>C	c.(3412-3414)gGc>gCc	p.G1138A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1138					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCGGAGATGGCTGCTCCAAG	0.403													4	26					0	0	0	0	C	176675542	G	C	176675542	3	2	397	1	0	0	0	0	1	0	0	0	11504	1203	42	4	3500	4	PAPPA2	1	176675542	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3786	176675542	72575079	24	76112											
PAPPA2	60676	broad.mit.edu	37	chr1	176709164	176709164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccactgattatcaatgtgaCccatcaccagaatgtccttt	11	13	5	12	0	2	3	2	2	0	1	4	3	4	3	4	0	0	0	4	0	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176709164C>G	ENST00000367662.3	+	14	5147	c.3983C>G	c.(3982-3984)aCc>aGc	p.T1328S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1328					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCAATGTGACCCATCACCAG	0.463													29	82					0	0	0	0	G	176709164	C	G	176709164	3	3	397	1	0	0	0	0	1	0	0	0	11504	507	18	4	4086	4	PAPPA2	1	176709164	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	33622	176709164	72541457	25	76113											
CEP350	9857	broad.mit.edu	37	chr1	180034395	180034395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaagaaaatgagaagccGcatggatgaaaagtatttgt	17	9	11	4	1	0	4	0	3	0	2	0	6	0	5	1	1	1	2	1	1	7	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:180034395G>T	ENST00000367607.3	+	27	5973	c.5555G>T	c.(5554-5556)cGc>cTc	p.R1852L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1852						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGAGAAGCCGCATGGATGAA	0.358													8	22					1.26484e-09	1.55859e-09	1	0	T	180034395	G	T	180034395	3	4	397	1	0	0	0	0	1	0	0	0	3283	1087	38	3	5657	3	CEP350	1	180034395	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3325231	180034395	69216226	26	76114											
HMCN1	83872	broad.mit.edu	37	chr1	186060049	186060049	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaacagaaagaatccGgtatgtttaaaaataatctt	17	12	8	4	1	1	3	0	1	1	2	2	3	2	3	1	2	1	2	1	2	8	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:186060049G>T	ENST00000271588.4	+	64	10116	c.9887_splice	c.e64+1	p.R3296_splice	HMCN1_ENST00000367492.2_Splice_Site_p.R3296_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3296	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAGAATCCGGTATGTTTAA	0.353													14	53					7.93312e-07	8.92229e-07	1	0	T	186060049	G	T	186060049	5	4	397	1	0	0	0	0	0	0	1	0	7270	1130	39	3	10141	3	HMCN1	1	186060049	Splice_Site	SNP	G	TCGA-F7-7848-01A-11D-2129-08	6025654	186060049	63190572	27	76115											
HMCN1	83872	broad.mit.edu	37	chr1	186094925	186094925	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcattttagaaaatgttgTggtaagtttaatggacgtga	13	15	10	3	1	1	2	1	1	0	1	1	3	1	3	0	2	0	3	0	2	5	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:186094925T>C	ENST00000271588.4	+	82	12918	c.12690_splice	c.e82+1	p.V4230_splice	HMCN1_ENST00000367492.2_Splice_Site_p.V4230_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4230	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAATGTTGTGGTAAGTTTA	0.303													14	41					0	0	0	0	C	186094925	T	C	186094925	5	2	397	1	0	0	0	0	0	0	1	0	7270	1710	59	5	13015	5	HMCN1	1	186094925	Splice_Site	SNP	T	TCGA-F7-7848-01A-11D-2129-08	34876	186094925	63155696	28	76116											
CFH	3075	broad.mit.edu	37	chr1	196697650	196697650	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccagaagtgaactgctCaagtaagctcttattttgtt	11	14	9	7	0	2	2	1	1	1	1	3	3	3	3	1	1	3	4	1	1	5	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:196697650C>A	ENST00000367429.4	+	15	2651	c.2411C>A	c.(2410-2412)tCa>tAa	p.S804*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	804	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGAACTGCTCAAGTAAGCTC	0.318													15	53					4.7546e-09	5.7182e-09	1	0	A	196697650	C	A	196697650	4	1	397	1	0	0	0	0	0	1	0	0	3312	838	29	2	2487	2	CFH	1	196697650	Nonsense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	10602725	196697650	52552971	29	76117											
CFH	3075	broad.mit.edu	37	chr1	196709852	196709852	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtacaaatgttttgaaggTtttggaattgatgggcctgc	10	14	12	5	1	0	2	0	2	0	0	0	3	0	3	1	3	2	3	1	3	4	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:196709852T>A	ENST00000367429.4	+	18	3126	c.2886T>A	c.(2884-2886)ggT>ggA	p.G962G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	962	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTTTGAAGGTTTTGGAATTG	0.373													26	67					0	0	0	0	A	196709852	T	A	196709852	2	1	397	1	0	0	0	0	0	0	0	1	3312	1712	60	5		5	CFH	1	196709852	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	12202	196709852	52540769	30	76118											
MYBPH	4608	broad.mit.edu	37	chr1	203140617	203140617	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcgaatgaagaggatGgagtcctggtccccggtgcg	8	6	17	10	4	0	2	0	1	0	1	2	6	2	4	4	4	2	0	4	4	2	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:203140617G>C	ENST00000255416.4	-	5	744	c.687C>G	c.(685-687)tcC>tcG	p.S229S		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	229	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TGAAGAGGATGGAGTCCTGGT	0.652													6	27					0	0	0	0	C	203140617	G	C	203140617	2	2	397	1	0	0	0	0	0	0	0	1	10084	1335	47	4		4	MYBPH	1	203140617	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	6430765	203140617	46110004	31	76119											
PROX1	5629	broad.mit.edu	37	chr1	214170722	214170722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaagacagcatgcgctcgGagatcctggatgccagggcc	9	6	14	12	2	0	3	0	1	0	2	2	5	1	4	3	3	3	2	3	3	1	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:214170722G>A	ENST00000366958.4	+	2	1452	c.844G>A	c.(844-846)Gag>Aag	p.E282K	PROX1_ENST00000435016.1_Missense_Mutation_p.E282K|PROX1_ENST00000498508.2_Missense_Mutation_p.E282K|PROX1_ENST00000261454.4_Missense_Mutation_p.E282K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	282					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATGCGCTCGGAGATCCTGGA	0.517													8	34					0	0	0	0	A	214170722	G	A	214170722	3	1	397	1	0	0	0	0	1	0	0	0	12640	1175	41	2	846	2	PROX1	1	214170722	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	11030105	214170722	35079899	32	76120											
SLC35F3	148641	broad.mit.edu	37	chr1	234444872	234444872	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcgattttttggagacAatggcttgactttgaaggtg	8	15	13	5	1	0	3	0	2	0	1	1	5	0	3	0	3	0	2	0	3	2	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:234444872A>T	ENST00000366618.3	+	4	779	c.634A>T	c.(634-636)Aat>Tat	p.N212Y	SLC35F3_ENST00000366617.3_Missense_Mutation_p.N143Y	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	143					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTTTGGAGACAATGGCTTGAC	0.378													21	51					0	0	0	0	T	234444872	A	T	234444872	3	4	397	1	0	0	0	0	1	0	0	0	14678	130	5	5	648	5	SLC35F3	1	234444872	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	20274150	234444872	14805749	33	76121											
SLC35F3	148641	broad.mit.edu	37	chr1	234444975	234444975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaataaagaaaataaacaCtacggatgtctccgtgttgt	15	11	8	7	2	1	1	0	0	1	1	2	2	1	2	1	1	3	2	1	1	8	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:234444975C>A	ENST00000366618.3	+	4	882	c.737C>A	c.(736-738)aCt>aAt	p.T246N	SLC35F3_ENST00000366617.3_Missense_Mutation_p.T177N	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	177					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAAATAAACACTACGGATGTC	0.438													20	61					4.35082e-09	5.27478e-09	1	0	A	234444975	C	A	234444975	3	1	397	1	0	0	0	0	1	0	0	0	14678	565	20	4	751	4	SLC35F3	1	234444975	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	103	234444975	14805646	34	76122											
RYR2	6262	broad.mit.edu	37	chr1	237923109	237923109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaaggagaaaaaggatGtgggcttctttcagagcctg	12	9	12	8	0	3	2	2	0	1	2	3	4	3	3	2	3	1	1	2	3	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:237923109G>T	ENST00000366574.2	+	83	11676	c.11359G>T	c.(11359-11361)Gtg>Ttg	p.V3787L	RYR2_ENST00000542537.1_Missense_Mutation_p.V3771L|RYR2_ENST00000360064.6_Missense_Mutation_p.V3793L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3787					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAAAAGGATGTGGGCTTCTT	0.413													17	70					9.16793e-09	1.09675e-08	1	0	T	237923109	G	T	237923109	3	4	397	1	0	0	0	0	1	0	0	0	13854	1377	48	4	11689	4	RYR2	1	237923109	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3478134	237923109	11327512	35	76123											
FMN2	56776	broad.mit.edu	37	chr1	240351556	240351556	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaaaacgctcagatgctgtCcagaaggtaagatgatctta	15	9	9	8	1	2	4	1	1	1	3	3	4	3	4	1	1	2	3	1	1	5	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:240351556C>G	ENST00000319653.9	+	4	2210	c.1980C>G	c.(1978-1980)gtC>gtG	p.V660V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	660					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGATGCTGTCCAGAAGGTAA	0.408													16	48					0	0	0	0	G	240351556	C	G	240351556	2	3	397	1	0	0	0	0	0	0	0	1	5995	842	30	2		2	FMN2	1	240351556	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2428447	240351556	8899065	36	76124											
RGS7	6000	broad.mit.edu	37	chr1	240976951	240976951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagaaagtggtgtcatcgGacagccatgggttagaaggg	11	7	15	8	1	1	2	1	0	0	2	2	3	1	3	2	4	1	1	2	4	3	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:240976951G>T	ENST00000366565.1	-	13	1304	c.923C>A	c.(922-924)tCc>tAc	p.S308Y	RGS7_ENST00000366563.1_Missense_Mutation_p.S308Y|RGS7_ENST00000401882.1_Missense_Mutation_p.S255Y|RGS7_ENST00000348120.2_Missense_Mutation_p.S255Y|RGS7_ENST00000366564.1_Missense_Mutation_p.S308Y|RGS7_ENST00000366562.4_Missense_Mutation_p.S308Y|RGS7_ENST00000407727.1_Missense_Mutation_p.S308Y|RGS7_ENST00000446183.2_Missense_Mutation_p.S224Y|RGS7_ENST00000331110.7_Missense_Mutation_p.S282Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	308	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGTGTCATCGGACAGCCATGG	0.443													15	24					7.93312e-07	8.92229e-07	1	0	T	240976951	G	T	240976951	3	4	397	1	0	0	0	0	1	0	0	0	13393	1174	41	2	564	2	RGS7	1	240976951	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	625395	240976951	8273670	37	76125											
OR13G1	441933	broad.mit.edu	37	chr1	247835845	247835845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcaatggtgtttggccCacagaaagtcaacctcatga	11	10	11	9	0	3	2	3	1	0	1	3	2	3	2	2	3	1	1	2	3	3	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:247835845C>A	ENST00000359688.2	-	1	520	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GTGTTTGGCCCACAGAAAGTC	0.483													10	51					2.17888e-05	2.37361e-05	1	0	A	247835845	C	A	247835845	3	1	397	1	0	0	0	0	1	0	0	0	11013	594	21	4	428	4	OR13G1	1	247835845	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	6858894	247835845	1414776	38	76126											
OR2T6	254879	broad.mit.edu	37	chr1	248551061	248551061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgatcttcctgattaacaTagaccctcatctccacaccc	11	11	3	16	0	3	3	1	2	2	1	5	3	4	3	4	0	1	0	4	0	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:248551061T>C	ENST00000355728.2	+	1	152	c.152T>C	c.(151-153)aTa>aCa	p.I51T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGATTAACATAGACCCTCAT	0.458													18	57					0	0	0	0	C	248551061	T	C	248551061	3	2	397	1	0	0	0	0	1	0	0	0	11100	1406	49	5	154	5	OR2T6	1	248551061	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	715216	248551061	699560	39	76127											
OR2G6	391211	broad.mit.edu	37	chr1	248685492	248685492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattttctgtgaggtgcCagtgctcatcaaactggcct	8	14	9	10	0	4	1	3	1	1	0	4	1	4	1	2	2	3	1	2	2	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:248685492C>T	ENST00000343414.4	+	1	577	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGAGGTGCCAGTGCTCATC	0.512													21	42					0	0	0	0	T	248685492	C	T	248685492	3	4	397	1	0	0	0	0	1	0	0	0	11071	594	21	4	547	4	OR2G6	1	248685492	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	134431	248685492	565129	40	76128											
APOB	338	broad.mit.edu	37	chr2	21234732	21234732	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagctctgcattcagctCattctccagcaccaggagac	10	8	8	15	0	4	1	2	0	2	1	5	2	4	1	3	1	4	4	3	1	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:21234732C>A	ENST00000233242.1	-	26	5135	c.5008G>T	c.(5008-5010)Gag>Tag	p.E1670*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1670				E -> D (in Ref. 8; AAA51752).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCATTCAGCTCATTCTCCAGC	0.473													23	73					1.50039e-11	1.93336e-11	1	0	A	21234732	C	A	21234732	4	1	397	1	0	0	0	0	0	1	0	0	787	835	29	2	8699	2	APOB	2	21234732	Nonsense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08		21234732	221964641	41	76129											
SLC8A1	6546	broad.mit.edu	37	chr2	40656161	40656161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggccacagtaccacagttCtccagacactgatatgtccc	11	8	8	14	0	1	2	0	1	1	1	3	2	2	2	4	1	1	2	4	1	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:40656161C>G	ENST00000406785.1	-	2	1449	c.1260G>C	c.(1258-1260)gaG>gaC	p.E420D	SLC8A1_ENST00000332839.4_Missense_Mutation_p.E420D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E420D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E420D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E420D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E420D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	420	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	TACCACAGTTCTCCAGACACT	0.463													17	66					0	0	0	0	G	40656161	C	G	40656161	3	3	397	1	0	0	0	0	1	0	0	0	14794	912	32	2	1809	2	SLC8A1	2	40656161	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	19421429	40656161	202543212	42	76130											
EML4	27436	broad.mit.edu	37	chr2	42472706	42472706	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgtcagctcttgagtcAcgagttcagcaacaagaaga	12	8	10	11	2	4	3	3	1	1	2	4	4	4	3	1	0	3	3	1	0	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:42472706A>G	ENST00000318522.5	+	2	349	c.87A>G	c.(85-87)tcA>tcG	p.S29S	EML4_ENST00000402711.2_Silent_p.S29S|EML4_ENST00000401738.3_Silent_p.S29S|EML4_ENST00000482660.1_3'UTR	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	29					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CTCTTGAGTCACGAGTTCAGC	0.383			T	ALK	NSCLC								17	36					0	0	0	0	G	42472706	A	G	42472706	2	3	397	1	0	0	0	0	0	0	0	1	5137	146	6	5		5	EML4	2	42472706	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	1816545	42472706	200726667	43	76131											
CCDC85A	114800	broad.mit.edu	37	chr2	56420144	56420144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtggaaccccagatcGccccaaagcactcaaaggac	13	4	9	15	1	1	1	1	0	0	1	2	3	1	3	5	2	3	1	5	2	3	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:56420144G>T	ENST00000407595.2	+	2	1311	c.809G>T	c.(808-810)cGc>cTc	p.R270L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	270	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCCCAGATCGCCCCAAAGCA	0.652													15	40					2.31682e-05	2.49376e-05	1	0	T	56420144	G	T	56420144	3	4	397	1	0	0	0	0	1	0	0	0	2886	1087	38	3	815	3	CCDC85A	2	56420144	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	13947438	56420144	186779229	44	76132											
TIA1	7072	broad.mit.edu	37	chr2	70443968	70443968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaacatttaaaatctagcGtatttttctccaaaattcca	14	16	2	9	1	3	0	0	0	3	0	5	0	4	0	2	0	2	1	2	0	7	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:70443968G>A	ENST00000416149.2	-	8	656	c.633C>T	c.(631-633)taC>taT	p.Y211Y	TIA1_ENST00000445587.1_Intron|TIA1_ENST00000433529.2_Intron|TIA1_ENST00000282574.4_Intron|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000415783.2_Intron|TIA1_ENST00000482876.1_Intron			P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	313					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						AAAATCTAGCGTATTTTTCTC	0.373													48	108					0	0	0	0	A	70443968	G	A	70443968	2	1	397	1	0	0	0	0	0	0	0	1	15981	1160	40	1		1	TIA1	2	70443968	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	14023824	70443968	172755405	45	76133											
AFF3	3899	broad.mit.edu	37	chr2	100210155	100210155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatttggggacgatcctGcttagcccccgcgtgcggcg	4	10	15	12	5	0	0	0	0	0	0	1	3	1	2	3	4	3	1	3	4	1	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:100210155G>T	ENST00000317233.4	-	14	2203	c.1968C>A	c.(1966-1968)agC>agA	p.S656R	AFF3_ENST00000409236.1_Missense_Mutation_p.S656R|AFF3_ENST00000409579.1_Missense_Mutation_p.S681R|AFF3_ENST00000356421.2_Missense_Mutation_p.S681R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	656					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGACGATCCTGCTTAGCCCCC	0.617													25	61					9.57634e-11	1.2064e-10	1	0	T	100210155	G	T	100210155	3	4	397	1	0	0	0	0	1	0	0	0	358	1310	46	4	1756	4	AFF3	2	100210155	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	29766187	100210155	142989218	46	76134											
CCDC138	165055	broad.mit.edu	37	chr2	109473416	109473416	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatagtttgctccagatgacGgtggaatctagtaagttttt	10	15	11	5	1	1	2	0	1	1	1	2	4	2	3	1	2	1	4	1	2	4	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:109473416G>T	ENST00000295124.4	+	13	1743	c.1683G>T	c.(1681-1683)acG>acT	p.T561T	CCDC138_ENST00000412964.2_Silent_p.T561T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	561										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TCCAGATGACGGTGGAATCTA	0.343													14	56					4.3838e-07	4.99266e-07	1	0	T	109473416	G	T	109473416	2	4	397	1	0	0	0	0	0	0	0	1	2797	1103	39	3		3	CCDC138	2	109473416	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	9263261	109473416	133725957	47	76135											
GPR17	2840	broad.mit.edu	37	chr2	128409254	128409254	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaacttgctctgtggcaaAaggctcaagggcccgccccc	8	7	11	15	1	2	0	1	0	1	0	2	0	2	0	3	3	3	4	3	3	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:128409254A>G	ENST00000544369.1	+	4	1640	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Silent_p.K343K|GPR17_ENST00000272644.3_Silent_p.K343K|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	343						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCTGTGGCAAAAGGCTCAAGG	0.632													16	88					0	0	0	0	G	128409254	A	G	128409254	2	3	397	1	0	0	0	0	0	0	0	1	6716	11	1	5		5	GPR17	2	128409254	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	18935838	128409254	114790119	48	76136											
THSD7B	80731	broad.mit.edu	37	chr2	138169330	138169330	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggagcctcaccgaggActgcgggtacaagcagacag	13	3	15	10	2	1	2	1	0	0	2	1	5	1	4	2	3	4	2	2	3	3	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:138169330A>C	ENST00000409968.1	+	14	3025	c.2847A>C	c.(2845-2847)ggA>ggC	p.G949G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.G949G|THSD7B_ENST00000413152.2_Silent_p.G918G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCACCGAGGACTGCGGGTAC	0.483													30	76					0	0	0	0	C	138169330	A	C	138169330	2	2	397	1	0	0	0	0	0	0	0	1	15974	262	10	5		5	THSD7B	2	138169330	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	9760076	138169330	105030043	49	76137											
EPC2	26122	broad.mit.edu	37	chr2	149447814	149447814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgagcaatttcagcacAgcaagtgtttagagaaaaaa	18	7	9	7	1	1	1	1	0	0	1	1	3	1	1	0	0	4	4	0	0	6	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:149447814A>G	ENST00000258484.6	+	2	219	c.185A>G	c.(184-186)cAg>cGg	p.Q62R	EPC2_ENST00000409654.1_Missense_Mutation_p.Q62R	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	62					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTTCAGCACAGCAAGTGTTT	0.333													23	54					0	0	0	0	G	149447814	A	G	149447814	3	3	397	1	0	0	0	0	1	0	0	0	5199	188	7	5	191	5	EPC2	2	149447814	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	11278484	149447814	93751559	50	76138											
CYTIP	9595	broad.mit.edu	37	chr2	158272443	158272443	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgtactcgtctgccGactgaaggcacccctgctgg	7	10	10	14	2	3	1	1	1	2	0	4	2	3	1	3	2	3	3	3	2	2	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:158272443G>T	ENST00000264192.3	-	8	947	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	CYTIP_ENST00000540637.1_Silent_p.R170R	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	276	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTCGTCTGCCGACTGAAGGCA	0.537													20	47					1.33834e-09	1.64019e-09	1	0	T	158272443	G	T	158272443	2	4	397	1	0	0	0	0	0	0	0	1	4239	1057	37	3		3	CYTIP	2	158272443	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	8824629	158272443	84926930	51	76139											
PLA2R1	22925	broad.mit.edu	37	chr2	160833232	160833232	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaatcttgggtttcacatCtgcaaagtgaaagcaaatca	14	10	9	8	1	4	1	2	1	2	0	4	2	4	2	0	2	2	3	0	2	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:160833232C>T	ENST00000283243.7	-	16	2608		c.e16-1		PLA2R1_ENST00000392771.1_Splice_Site	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa						endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTTTCACATCTGCAAAGTGA	0.358													14	31					0	0	0	0	T	160833232	C	T	160833232	5	4	397	1	0	0	0	0	0	0	1	0	12082	927	32	2	2058	2	PLA2R1	2	160833232	Splice_Site	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2560789	160833232	82366141	52	76140											
SLC4A10	57282	broad.mit.edu	37	chr2	162425193	162425193	+	RNA	DEL	C	C	-																															gtctgattgggggtttcaaaCttcttatatcagtcgaattt																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:162425193delC	ENST00000605990.1	+	0	344																											GGGTTTCAAACTTCTTATATC	0.418													6	10	---	---	---	---					-	162425193	C	-	162425193	6	5	397	0	1	1	0	1	0	0	0	0	14739	580	20	0		0	SLC4A10	2	162425193	RNA	DEL	C	TCGA-F7-7848-01A-11D-2129-08	1591961	162425193	80774180	53	76141											
FAP	2191	broad.mit.edu	37	chr2	163027570	163027570	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaggccggataagccGtggttctggtcagagtacca	9	8	15	9	2	2	1	1	0	1	1	2	3	2	3	3	5	2	2	3	5	2	3	rs138589105	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:163027570G>A	ENST00000188790.4	-	26	2409	c.2202C>T	c.(2200-2202)caC>caT	p.H734H	FAP_ENST00000443424.1_Silent_p.H709H|AC007750.5_ENST00000418968.2_RNA	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	734					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CGGATAAGCCGTGGTTCTGGT	0.438													19	56					0	0	0	0	A	163027570	G	A	163027570	2	1	397	1	0	0	0	0	0	0	0	1	5718	1136	40	1		1	FAP	2	163027570	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	602377	163027570	80171803	54	76142											
SCN2A	6326	broad.mit.edu	37	chr2	166245537	166245537	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagatcaccctggaagcTcagttaaaggagactgtggg	14	7	12	8	0	2	2	2	0	0	2	2	4	2	3	1	3	1	2	1	3	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:166245537T>A	ENST00000357398.3	+	27	5511	c.5221T>A	c.(5221-5223)Tca>Aca	p.S1741T	SCN2A_ENST00000375427.2_Missense_Mutation_p.S1741T|SCN2A_ENST00000375437.2_Missense_Mutation_p.S1741T|SCN2A_ENST00000283256.6_Missense_Mutation_p.S1741T			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1741					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCCTGGAAGCTCAGTTAAAGG	0.458													57	199					0	0	0	0	A	166245537	T	A	166245537	3	1	397	1	0	0	0	0	1	0	0	0	14003	1551	54	5	5419	5	SCN2A	2	166245537	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	3217967	166245537	76953836	55	76143											
LRP2	4036	broad.mit.edu	37	chr2	169999284	169999284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagaggtggctgcagatCtgtttgcaaaggttgggcac	9	9	16	7	0	1	2	0	0	1	2	1	2	1	2	0	5	2	7	0	5	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:169999284C>A	ENST00000263816.3	-	71	13293	c.13008G>T	c.(13006-13008)caG>caT	p.Q4336H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4336	EGF-like 16.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTGCAGATCTGTTTGCAAA	0.537													21	56					1.55795e-14	2.11001e-14	1	0	A	169999284	C	A	169999284	3	1	397	1	0	0	0	0	1	0	0	0	9020	912	32	2	995	2	LRP2	2	169999284	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	3753747	169999284	73200089	56	76144											
HOXD10	3236	broad.mit.edu	37	chr2	176981826	176981826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagatccgaacagatcttgtCgaatagagcaacctgttaca	14	9	8	10	2	1	3	0	0	1	3	3	5	2	3	2	0	4	2	2	0	5	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:176981826C>G	ENST00000249501.4	+	1	520	c.265C>G	c.(265-267)Cga>Gga	p.R89G	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	89						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGATCTTGTCGAATAGAGCA	0.433													32	72					0	0	0	0	G	176981826	C	G	176981826	3	3	397	1	0	0	0	0	1	0	0	0	7369	876	31	3	267	3	HOXD10	2	176981826	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	6982542	176981826	66217547	57	76145											
TTN	7273	broad.mit.edu	37	chr2	179588653	179588653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcatgtgtaattgccCatatctgaggaatccagaga	12	9	10	10	1	1	2	0	1	1	1	2	4	2	3	3	1	1	2	3	1	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:179588653C>T	ENST00000589042.1	-	73	21557	c.21333G>A	c.(21331-21333)atG>atA	p.M7111I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M5867I|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M6794I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6794	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAATTGCCCATATCTGAGG	0.423													21	63					0	0	0	0	T	179588653	C	T	179588653	3	4	397	1	0	0	0	0	1	0	0	0	16831	594	21	4	83356	4	TTN	2	179588653	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2606827	179588653	63610720	58	76146											
ZNF804A	91752	broad.mit.edu	37	chr2	185800594	185800594	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcccaacgagttgttgtGgattcagttaataaccagca	12	13	8	8	1	1	0	1	0	0	0	2	2	2	1	2	1	3	4	2	1	3	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:185800594G>T	ENST00000302277.6	+	4	1065	c.471G>T	c.(469-471)gtG>gtT	p.V157V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	157						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAGTTGTTGTGGATTCAGTTA	0.383													18	45					2.35188e-11	3.02193e-11	1	0	T	185800594	G	T	185800594	2	4	397	1	0	0	0	0	0	0	0	1	18263	1335	47	4		4	ZNF804A	2	185800594	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	6211941	185800594	57398779	59	76147											
ZNF804A	91752	broad.mit.edu	37	chr2	185803491	185803491	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcagctgcaggaacctttaAagtgcttcagccacaccaac	12	7	8	14	1	1	0	1	0	0	0	1	1	1	1	3	1	6	4	3	1	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:185803491A>C	ENST00000302277.6	+	4	3962	c.3368A>C	c.(3367-3369)aAa>aCa	p.K1123T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1123						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gGAACCTTTAAAGTGCTTCAG	0.517													30	68					0	0	0	0	C	185803491	A	C	185803491	3	2	397	1	0	0	0	0	1	0	0	0	18263	14	1	5	3382	5	ZNF804A	2	185803491	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	2897	185803491	57395882	60	76148											
FSIP2	401024	broad.mit.edu	37	chr2	186672707	186672707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagtccaagaatttatctCcaaaagtaagattaaacttg	16	13	5	7	0	2	2	1	0	1	2	4	2	3	2	2	0	1	1	2	0	8	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:186672707C>A	ENST00000343098.5	+	17	18941	c.18941C>A	c.(18940-18942)tCc>tAc	p.S6314Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6225Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAATTTATCTCCAAAAGTAAG	0.308													12	29					0.000978159	0.00101647	1	0	A	186672707	C	A	186672707	3	1	397	1	0	0	0	0	1	0	0	0	6123	855	30	2	19007	2	FSIP2	2	186672707	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	869216	186672707	56526666	61	76149											
SLC39A10	57181	broad.mit.edu	37	chr2	196578254	196578254	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatacaccagattctgactGgcttcaactcaagcctcttg	11	11	6	13	0	4	2	2	1	2	1	4	2	4	2	2	1	3	1	2	1	4	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196578254G>A	ENST00000409086.3	+	6	1948	c.1673G>A	c.(1672-1674)tGg>tAg	p.W558*	SLC39A10_ENST00000541054.1_Nonsense_Mutation_p.W108*|SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.W558*	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	558					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GATTCTGACTGGCTTCAACTC	0.323													16	20					0	0	0	0	A	196578254	G	A	196578254	4	1	397	1	0	0	0	0	0	1	0	0	14701	1357	47	4	1691	4	SLC39A10	2	196578254	Nonsense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	9905547	196578254	46621119	62	76150											
DNAH7	56171	broad.mit.edu	37	chr2	196765106	196765106	+	Missense_Mutation	SNP	G	G	C																															ctgaacacaagcgatacgtaGccacaatttttacagacagt																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196765106G>C	ENST00000312428.6	-	28	4548	c.4448C>G	c.(4447-4449)gCt>gGt	p.A1483G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1483	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCGATACGTAGCCACAATTTT	0.458													50	120					0	0	0	0	C	196765106	G	C	196765106	3	2	397	1	0	0	0	0	1	0	0	0	4642	971	34	4	7778	4	DNAH7	2	196765106	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	186852	196765106	46434267	63	76151	1021	2									
DNAH7	56171	broad.mit.edu	37	chr2	196765116	196765116	+	Missense_Mutation	SNP	T	T	C																															gcgatacgtagccacaatttTtacagacagtggtcgagcag																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196765116T>C	ENST00000312428.6	-	28	4538	c.4438A>G	c.(4438-4440)Aaa>Gaa	p.K1480E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1480	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCACAATTTTTACAGACAGT	0.463													50	131					0	0	0	0	C	196765116	T	C	196765116	3	2	397	1	0	0	0	0	1	0	0	0	4642	1850	64	5	7788	5	DNAH7	2	196765116	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	10	196765116	46434257	64	76152	1021	2									
HECW2	57520	broad.mit.edu	37	chr2	197183378	197183378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcggcagcagctgcagCtccctccaggctccccctcc	4	7	9	21	1	1	0	0	0	1	0	6	0	5	0	5	2	4	7	5	2	0	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:197183378C>T	ENST00000260983.2	-	9	2418	c.2236G>A	c.(2236-2238)Gct>Act	p.A746T	HECW2_ENST00000409111.1_Missense_Mutation_p.A390T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	746	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCAGCTGCAGCTCCCTCCAGG	0.682													9	36					0	0	0	0	T	197183378	C	T	197183378	3	4	397	1	0	0	0	0	1	0	0	0	7093	797	28	4	2566	4	HECW2	2	197183378	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	418262	197183378	46015995	65	76153											
MAP2	4133	broad.mit.edu	37	chr2	210559334	210559334	+	Frame_Shift_Del	DEL	G	G	-																															ctgaaatgctagatctggcaGgcacaaggtcaagattggct																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:210559334delG	ENST00000360351.4	+	7	2946	c.2440delG	c.(2440-2442)gcfs	p.G814fs	MAP2_ENST00000447185.1_Frame_Shift_Del_p.G810fs|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	814					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.G814S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGATCTGGCAGGCACAAGGTC	0.473													34	104	---	---	---	---					-	210559334	G	-	210559334	7	5	397	1	0	1	0	1	0	0	0	0	9304	1000	35	0	2454	0	MAP2	2	210559334	Frame_Shift_Del	DEL	G	TCGA-F7-7848-01A-11D-2129-08	13375956	210559334	32640039	66	76154											
MOGAT1	116255	broad.mit.edu	37	chr2	223554124	223554124	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttcctggctttacttcAtatcttcacgtgctgccact	5	17	6	13	1	3	0	2	0	1	0	4	0	4	0	2	1	3	3	2	1	2	6	rs147393916	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:223554124A>T	ENST00000446656.3	+	3	414	c.414A>T	c.(412-414)tcA>tcT	p.S138S		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	138					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCTTTACTTCATATCTTCACG	0.428													18	54					0	0	0	0	T	223554124	A	T	223554124	2	4	397	1	0	0	0	0	0	0	0	1	9764	204	8	5		5	MOGAT1	2	223554124	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	12994790	223554124	19645249	67	76155											
COL4A3	1285	broad.mit.edu	37	chr2	228169782	228169782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagaaaaaggcaacaaagGttctaaaggagagccaggta	18	5	13	5	0	1	2	0	0	1	2	1	4	1	2	1	5	2	3	1	5	7	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228169782G>A	ENST00000396578.3	+	47	4397	c.4235G>A	c.(4234-4236)gGt>gAt	p.G1412D	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1412	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCAACAAAGGTTCTAAAGGA	0.488													4	21					0	0	0	0	A	228169782	G	A	228169782	3	1	397	1	0	0	0	0	1	0	0	0	3721	1261	44	4	4421	4	COL4A3	2	228169782	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	4615658	228169782	15029591	68	76156											
SLC19A3	80704	broad.mit.edu	37	chr2	228563763	228563763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcacagcctggtgcttcaCcttcgtgagtttcctctaat	6	15	7	13	1	3	1	2	1	1	0	5	1	4	1	3	1	2	2	3	1	1	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228563763C>A	ENST00000258403.3	-	3	739	c.668G>T	c.(667-669)gGt>gTt	p.G223V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G219V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	223					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TGGTGCTTCACCTTCGTGAGT	0.448													13	43					7.03913e-09	8.44321e-09	1	0	A	228563763	C	A	228563763	3	1	397	1	0	0	0	0	1	0	0	0	14518	507	18	4	838	4	SLC19A3	2	228563763	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	393981	228563763	14635610	69	76157											
CCL20	6364	broad.mit.edu	37	chr2	228681044	228681044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacacaaagaaaaagttGtctgtgtgcgcaaatccaaa	16	10	7	8	1	2	1	1	0	1	1	3	1	3	1	1	0	1	2	1	0	5	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228681044G>T	ENST00000409189.3	+	3	280	c.210G>T	c.(208-210)ttG>ttT	p.L70F	CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000358813.4_Missense_Mutation_p.L71F	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	71					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AGAAAAAGTTGTCTGTGTGCG	0.338													15	37					1.37285e-15	1.9051e-15	1	0	T	228681044	G	T	228681044	3	4	397	1	0	0	0	0	1	0	0	0	2919	1368	48	4	223	4	CCL20	2	228681044	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	117281	228681044	14518329	70	76158											
SPHKAP	80309	broad.mit.edu	37	chr2	228855881	228855881	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggggctggctgttcccgtAggcggtccagatgcaggtgc	4	9	18	10	2	0	1	0	0	0	1	2	1	2	1	2	6	2	5	2	6	1	2	rs137978320	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228855881A>T	ENST00000392056.3	-	11	4840	c.4794T>A	c.(4792-4794)ccT>ccA	p.P1598P	SPHKAP_ENST00000344657.5_Silent_p.P1569P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1598						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTTCCCGTAGGCGGTCCAG	0.562													20	53					0	0	0	0	T	228855881	A	T	228855881	2	4	397	1	0	0	0	0	0	0	0	1	15138	407	15	5		5	SPHKAP	2	228855881	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	174837	228855881	14343492	71	76159											
ALPPL2	251	broad.mit.edu	37	chr2	233273006	233273006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggaggccgaaagtacatGtttcccatggggaccccaga	10	7	14	10	1	0	1	0	0	0	1	1	4	1	3	4	5	1	2	4	5	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:233273006G>T	ENST00000295453.3	+	6	730	c.678G>T	c.(676-678)atG>atT	p.M226I		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	226					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GAAAGTACATGTTTCCCATGG	0.617													15	69					2.31682e-05	2.49376e-05	1	0	T	233273006	G	T	233273006	3	4	397	1	0	0	0	0	1	0	0	0	549	1377	48	4	700	4	ALPPL2	2	233273006	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	4417125	233273006	9926367	72	76160											
CHL1	10752	broad.mit.edu	37	chr3	432410	432410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacagctccagtgatccatGgggtggacgttataaacagt	12	10	11	8	1	0	1	0	1	0	0	2	2	2	2	2	3	3	2	2	3	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:432410G>T	ENST00000256509.2	+	21	3139	c.2497G>T	c.(2497-2499)Ggg>Tgg	p.G833W	CHL1_ENST00000397491.2_Missense_Mutation_p.G817W	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	817	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTGATCCATGGGGTGGACGT	0.363													12	37					2.80697e-09	3.41225e-09	1	0	T	432410	G	T	432410	3	4	397	1	0	0	0	0	1	0	0	0	3378	1348	47	4	2571	4	CHL1	3	432410	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08		432410	197590020	73	76161											
PLCL2	23228	broad.mit.edu	37	chr3	17051331	17051331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatcataggtactttttaCtggatgctgacatgcagagc	10	15	9	7	0	1	2	1	1	0	1	1	3	1	3	0	2	5	3	0	2	4	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:17051331C>T	ENST00000418129.2	+	2	580	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	PLCL2_ENST00000432376.1_Silent_p.L39L|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Silent_p.L39L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	165	Gly-rich.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTACTTTTTACTGGATGCTGA	0.403													10	56					0	0	0	0	T	17051331	C	T	17051331	2	4	397	1	0	0	0	0	0	0	0	1	12112	564	20	4		4	PLCL2	3	17051331	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	16618921	17051331	180971099	74	76162											
NEK10	152110	broad.mit.edu	37	chr3	27183039	27183039	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggatcactgatctgacgCactttcctctgggacacagc	10	10	9	12	1	3	2	1	2	2	0	4	4	4	4	1	2	1	1	1	2	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:27183039C>A	ENST00000429845.2	-	34	3437	c.3075G>T	c.(3073-3075)gtG>gtT	p.V1025V	NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000295720.6_Silent_p.V337V|NEK10_ENST00000383770.3_Silent_p.V280V|NEK10_ENST00000383771.4_Silent_p.V327V			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1025							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATCTGACGCACTTTCCTCT	0.358													7	60					5.18039e-06	5.69843e-06	1	0	A	27183039	C	A	27183039	2	1	397	1	0	0	0	0	0	0	0	1	10392	725	25	4		4	NEK10	3	27183039	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	10131708	27183039	170839391	75	76163											
STAC	6769	broad.mit.edu	37	chr3	36545898	36545898	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtgtttacatatccAgaaaatggcactgatgattt	12	14	7	8	0	1	3	1	2	0	1	2	3	2	3	2	1	1	2	2	1	4	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:36545898A>T	ENST00000273183.3	+	7	1080	c.780A>T	c.(778-780)ccA>ccT	p.P260P	STAC_ENST00000457375.2_Silent_p.P199P|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	260					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTACATATCCAGAAAATGGCA	0.373													7	38					0	0	0	0	T	36545898	A	T	36545898	2	4	397	1	0	0	0	0	0	0	0	1	15329	175	7	5		5	STAC	3	36545898	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	9362859	36545898	161476532	76	76164											
LTF	4057	broad.mit.edu	37	chr3	46479621	46479621	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttctcccaaatttagcCtgcgacaaaagggcagacag	13	8	8	12	1	1	1	0	0	1	1	2	2	1	1	3	1	2	1	3	1	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:46479621C>A	ENST00000231751.4	-	16	2204		c.e16-1		LTF_ENST00000426532.2_Splice_Site|LTF_ENST00000493056.1_Splice_Site|LTF_ENST00000417439.1_Splice_Site	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin						cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CAAATTTAGCCTGCGACAAAA	0.448													19	87					1.33834e-09	1.64019e-09	1	0	A	46479621	C	A	46479621	5	1	397	1	0	0	0	0	0	0	1	0	9143	695	24	4	232	4	LTF	3	46479621	Splice_Site	SNP	C	TCGA-F7-7848-01A-11D-2129-08	9933723	46479621	151542809	77	76165											
QARS	5859	broad.mit.edu	37	chr3	49137814	49137814	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggccctggccttaccTgcggatgagctccacagccc	6	8	11	16	1	1	1	1	1	0	0	2	2	2	2	5	3	4	1	5	3	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49137814T>G	ENST00000306125.6	-	12	1391	c.1055_splice	c.e12+1	p.R352_splice	QARS_ENST00000414533.1_Splice_Site_p.R341_splice|QARS_ENST00000470225.1_5'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	352					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGGCCTTACCTGCGGATGAGC	0.537													3	15					0	0	0	0	G	49137814	T	G	49137814	5	3	397	1	0	0	0	0	0	0	1	0	12953	1594	55	5	1325	5	QARS	3	49137814	Splice_Site	SNP	T	TCGA-F7-7848-01A-11D-2129-08	2658193	49137814	148884616	78	76166											
QARS	5859	broad.mit.edu	37	chr3	49142161	49142161	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacagggagtctagagcCgccattgcagagacaccgga	12	4	14	11	3	1	2	0	0	1	2	1	6	1	4	3	2	3	1	3	2	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49142161C>G	ENST00000306125.6	-	1	343	c.6G>C	c.(4-6)gcG>gcC	p.A2A	QARS_ENST00000414533.1_Silent_p.A2A|QARS_ENST00000420147.2_Silent_p.A20A			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	2					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGTCTAGAGCCGCCATTGCAG	0.612													5	20					0	0	0	0	G	49142161	C	G	49142161	2	3	397	1	0	0	0	0	0	0	0	1	12953	639	23	3		3	QARS	3	49142161	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	4347	49142161	148880269	79	76167											
MST1R	4486	broad.mit.edu	37	chr3	49933215	49933215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgcagccacaagcagcagCaaaggcagcaggataccaag	16	2	12	11	0	0	0	0	0	0	0	0	1	0	1	2	2	7	6	2	2	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49933215C>A	ENST00000296474.3	-	12	2922	c.2895G>T	c.(2893-2895)ttG>ttT	p.L965F	MST1R_ENST00000344206.4_Missense_Mutation_p.L916F	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	965					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAGCAGCAGCAAAGGCAGCA	0.582													3	19					6.4e-05	6.80755e-05	1	0	A	49933215	C	A	49933215	3	1	397	1	0	0	0	0	1	0	0	0	9961	709	25	4	1343	4	MST1R	3	49933215	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	791054	49933215	148089215	80	76168											
ERC2	26059	broad.mit.edu	37	chr3	56468959	56468959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcttcggtggcccaaaCgaggagaccttggcaaacga	10	9	12	10	3	1	1	0	0	1	1	2	4	1	1	2	4	2	2	2	4	2	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:56468959C>T	ENST00000288221.6	-	2	332	c.77G>A	c.(76-78)cGt>cAt	p.R26H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	26						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGGCCCAAACGAGGAGACCT	0.488													8	48					0	0	0	0	T	56468959	C	T	56468959	3	4	397	1	0	0	0	0	1	0	0	0	5249	536	19	1	2850	1	ERC2	3	56468959	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	6535744	56468959	141553471	81	76169											
CNTN3	5067	broad.mit.edu	37	chr3	74344279	74344279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaagaaattacctcatagCccagtaaatgtccattgctc	15	10	6	10	0	1	1	1	0	0	1	3	2	2	1	3	0	3	2	3	0	7	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:74344279C>A	ENST00000263665.6	-	18	2537	c.2510G>T	c.(2509-2511)gGc>gTc	p.G837V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	837	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTCATAGCCCAGTAAATG	0.398													9	45					0.00448238	0.00462598	1	0	A	74344279	C	A	74344279	3	1	397	1	0	0	0	0	1	0	0	0	3672	739	26	4	596	4	CNTN3	3	74344279	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	17875320	74344279	123678151	82	76170											
ZNF654	55279	broad.mit.edu	37	chr3	88189924	88189924	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccaaatctgacaagtgaAcatacttcatatggcttaat	17	11	5	8	0	2	2	1	2	1	0	2	2	2	2	1	1	3	1	1	1	7	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:88189924A>C	ENST00000309495.5	+	1	1671	c.1464A>C	c.(1462-1464)gaA>gaC	p.E488D	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGACAAGTGAACATACTTCAT	0.413													17	90					0	0	0	0	C	88189924	A	C	88189924	3	2	397	1	0	0	0	0	1	0	0	0	18162	40	2	5	1466	5	ZNF654	3	88189924	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	13845645	88189924	109832506	83	76171											
IMPG2	50939	broad.mit.edu	37	chr3	100963523	100963523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgttaaggacacatcaGagtcttccatggatggtatt	13	12	10	6	0	2	2	1	0	1	2	3	4	3	4	1	3	0	2	1	3	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:100963523G>C	ENST00000193391.7	-	13	1839	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	551					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGACACATCAGAGTCTTCCAT	0.393													36	85					0	0	0	0	C	100963523	G	C	100963523	3	2	397	1	0	0	0	0	1	0	0	0	7782	942	33	2	2101	2	IMPG2	3	100963523	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	12773599	100963523	97058907	84	76172											
PHLDB2	90102	broad.mit.edu	37	chr3	111632432	111632432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagtgccagcttctttacCcccaggagcaccaggaatga	11	7	10	13	0	1	1	0	1	1	0	1	3	1	3	4	2	5	3	4	2	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:111632432C>T	ENST00000431670.2	+	3	2013	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	PHLDB2_ENST00000481953.1_Silent_p.T534T|PHLDB2_ENST00000495180.1_Silent_p.T120T|PHLDB2_ENST00000393925.3_Silent_p.T534T|PHLDB2_ENST00000477695.1_Silent_p.T534T|PHLDB2_ENST00000393923.3_Silent_p.T561T|PHLDB2_ENST00000412622.1_Silent_p.T534T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	534						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCTTCTTTACCCCCAGGAGCA	0.562													37	109					0	0	0	0	T	111632432	C	T	111632432	2	4	397	1	0	0	0	0	0	0	0	1	11924	610	22	4		4	PHLDB2	3	111632432	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	10668909	111632432	86389998	85	76173											
FBXO40	51725	broad.mit.edu	37	chr3	121342100	121342100	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaggaatatctgtgcCactttgttacaagagagagg	12	11	12	6	0	1	4	0	2	1	2	1	6	1	5	1	2	2	1	1	2	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:121342100C>A	ENST00000338040.4	+	3	2238	c.1824C>A	c.(1822-1824)gcC>gcA	p.A608A		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	608	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ATATCTGTGCCACTTTGTTAC	0.507													15	60					1.15088e-07	1.31737e-07	1	0	A	121342100	C	A	121342100	2	1	397	1	0	0	0	0	0	0	0	1	5794	581	21	4		4	FBXO40	3	121342100	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	9709668	121342100	76680330	86	76174											
IQCB1	9657	broad.mit.edu	37	chr3	121500720	121500720	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcgctaggaatttaagcGcctggaagaaaaaaaattga	17	9	9	6	2	0	2	0	1	0	1	1	4	0	4	1	2	1	1	1	2	8	5	rs138646990		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:121500720G>A	ENST00000310864.6	-	13	1494	c.1278_splice	c.e13-1	p.A427_splice	IQCB1_ENST00000349820.6_Splice_Site_p.A294_splice	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	427	IQ 4.				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GAATTTAAGCGCCTGGAAGAA	0.388													19	49					0	0	0	0	A	121500720	G	A	121500720	5	1	397	1	0	0	0	0	0	0	1	0	7856	1101	38	1	528	1	IQCB1	3	121500720	Splice_Site	SNP	G	TCGA-F7-7848-01A-11D-2129-08	158620	121500720	76521710	87	76175											
PLXNA1	5361	broad.mit.edu	37	chr3	126723963	126723963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctggaacgtgcctgacCtctcagctggcgtcaactgc	7	8	12	14	2	2	1	2	1	1	0	3	2	2	2	3	3	5	1	3	3	2	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:126723963C>T	ENST00000393409.2	+	6	1774	c.1774C>T	c.(1774-1776)Ctc>Ttc	p.L592F	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L569F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	592					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGTGCCTGACCTCTCAGCTGG	0.657													4	27					0	0	0	0	T	126723963	C	T	126723963	3	4	397	1	0	0	0	0	1	0	0	0	12191	681	24	4	1796	4	PLXNA1	3	126723963	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	5223243	126723963	71298467	88	76176											
PLXNA1	5361	broad.mit.edu	37	chr3	126733570	126733570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggatcgtctgtgagatcGgggacgccagctccgtgcgt	7	8	15	11	5	1	1	0	1	1	1	4	4	2	3	2	3	2	1	2	3	0	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:126733570G>A	ENST00000393409.2	+	13	2773	c.2773G>A	c.(2773-2775)Ggg>Agg	p.G925R	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G902R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	925	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGAGATCGGGGACGCCAG	0.701													5	12					0	0	0	0	A	126733570	G	A	126733570	3	1	397	1	0	0	0	0	1	0	0	0	12191	1116	39	1	2823	1	PLXNA1	3	126733570	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	9607	126733570	71288860	89	76177											
BFSP2	8419	broad.mit.edu	37	chr3	133119261	133119261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgctgttgaggacctaGggggctgcctggtggaatat	7	11	17	6	0	0	1	0	1	0	0	0	3	0	3	2	6	2	3	2	6	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:133119261G>T	ENST00000302334.2	+	1	423	c.334G>T	c.(334-336)Ggg>Tgg	p.G112W		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	112	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGAGGACCTAGGGGGCTGCCT	0.607													14	45					1.05317e-09	1.30489e-09	1	0	T	133119261	G	T	133119261	3	4	397	1	0	0	0	0	1	0	0	0	1421	1000	35	4	336	4	BFSP2	3	133119261	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	6385691	133119261	64903169	90	76178											
KY	339855	broad.mit.edu	37	chr3	134348510	134348510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggggcatggcatctcgaGggtggacttccacagtcagt	7	9	15	10	1	2	0	1	0	1	0	4	2	3	1	1	5	0	3	1	5	0	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:134348510G>A	ENST00000508956.1	-	3	284	c.227C>T	c.(226-228)cCt>cTt	p.P76L	KY_ENST00000423778.2_Missense_Mutation_p.P97L|KY_ENST00000503669.1_Missense_Mutation_p.P97L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	97						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGCATCTCGAGGGTGGACTTC	0.507													3	3					0	0	0	0	A	134348510	G	A	134348510	3	1	397	1	0	0	0	0	1	0	0	0	8639	1000	35	4	1727	4	KY	3	134348510	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1229249	134348510	63673920	91	76179											
ATR	545	broad.mit.edu	37	chr3	142186867	142186867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcatatgaatagctttaTtgaggatttccttgcatctg	9	19	7	6	0	2	2	1	2	1	0	3	3	3	3	1	1	2	2	1	1	4	9			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:142186867T>C	ENST00000350721.4	-	39	6717	c.6596A>G	c.(6595-6597)aAt>aGt	p.N2199S	ATR_ENST00000383101.3_Missense_Mutation_p.N2135S|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2199					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			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						AATAGCTTTATTGAGGATTTC	0.333								Other conserved DNA damage response genes					30	85					0	0	0	0	C	142186867	T	C	142186867	3	2	397	1	0	0	0	0	1	0	0	0	1208	1493	52	5	1374	5	ATR	3	142186867	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	7838357	142186867	55835563	92	76180											
MME	4311	broad.mit.edu	37	chr3	154866441	154866441	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaaaggtggacaaagatGagtgcgtatattctcatttc	14	11	11	5	1	1	3	1	1	1	2	3	5	1	4	0	2	1	1	0	2	5	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:154866441G>C	ENST00000460393.1	+	16	1720	c.1601_splice	c.e16+1	p.E534_splice	MME_ENST00000492661.1_Splice_Site_p.E534_splice|MME_ENST00000493237.1_Splice_Site_p.E534_splice|MME_ENST00000462745.1_Splice_Site_p.E534_splice|MME_ENST00000360490.2_Splice_Site_p.E534_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	534					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGACAAAGATGAGTGCGTATA	0.348													7	48					0	0	0	0	C	154866441	G	C	154866441	5	2	397	1	0	0	0	0	0	0	1	0	9714	1304	45	2	1658	2	MME	3	154866441	Splice_Site	SNP	G	TCGA-F7-7848-01A-11D-2129-08	12679574	154866441	43155989	93	76181											
NMD3	51068	broad.mit.edu	37	chr3	160964156	160964156	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctgggtacagaagacAtctgaaatgaatacagataa	18	8	10	5	0	2	5	0	2	2	3	2	6	2	5	0	1	2	1	0	1	7	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:160964156A>G	ENST00000460469.1	+	11	1505	c.1050A>G	c.(1048-1050)acA>acG	p.T350T	NMD3_ENST00000351193.2_Silent_p.T350T|NMD3_ENST00000472947.1_Silent_p.T350T			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	350					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TACAGAAGACATCTGAAATGA	0.358													13	43					0	0	0	0	G	160964156	A	G	160964156	2	3	397	1	0	0	0	0	0	0	0	1	10558	204	8	5		5	NMD3	3	160964156	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	6097715	160964156	37058274	94	76182											
SLITRK3	22865	broad.mit.edu	37	chr3	164906463	164906463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcgaccaccacccccaCttccgccaccaccacctcca	8	6	4	23	2	0	0	0	0	0	0	3	1	2	0	10	1	0	0	10	1	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:164906463C>A	ENST00000475390.1	-	2	2599	c.2156G>T	c.(2155-2157)aGt>aTt	p.S719I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S719I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	719	Poly-Gly.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						accacccccacttccgccacc	0.577										HNSCC(40;0.11)			22	31					3.62473e-10	4.5284e-10	1	0	A	164906463	C	A	164906463	3	1	397	1	0	0	0	0	1	0	0	0	14832	565	20	4	781	4	SLITRK3	3	164906463	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	3942307	164906463	33115967	95	76183											
SLITRK3	22865	broad.mit.edu	37	chr3	164908115	164908115	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttacttaggttccgaaaTgccccactctcaatacgttt	11	14	5	11	2	1	0	1	0	1	0	3	1	2	0	3	1	3	2	3	1	6	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:164908115T>A	ENST00000475390.1	-	2	947	c.504A>T	c.(502-504)gcA>gcT	p.A168A	SLITRK3_ENST00000241274.3_Silent_p.A168A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	168						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTTCCGAAATGCCCCACTCT	0.383										HNSCC(40;0.11)			21	60					0	0	0	0	A	164908115	T	A	164908115	2	1	397	1	0	0	0	0	0	0	0	1	14832	1451	51	5		5	SLITRK3	3	164908115	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	1652	164908115	33114315	96	76184											
YEATS2	55689	broad.mit.edu	37	chr3	183479353	183479353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaattgggagtcaccctaAggttcaaagccccaaaccta	13	7	7	14	0	2	0	2	0	0	0	2	1	2	1	5	2	2	1	5	2	5	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:183479353A>T	ENST00000305135.5	+	14	1910	c.1715A>T	c.(1714-1716)aAg>aTg	p.K572M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	572					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGTCACCCTAAGGTTCAAAGC	0.413													38	82					0	0	0	0	T	183479353	A	T	183479353	3	4	397	1	0	0	0	0	1	0	0	0	17568	72	3	5	1765	5	YEATS2	3	183479353	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	18571238	183479353	14543077	97	76185											
FETUB	26998	broad.mit.edu	37	chr3	186358445	186358445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgtgctgagactcaacCgagtgaacgacgcccaggaa	12	6	12	11	3	1	2	1	2	0	1	1	6	1	3	2	1	3	2	2	1	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:186358445C>G	ENST00000265029.3	+	1	297	c.196C>G	c.(196-198)Cga>Gga	p.R66G	FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382134.3_Missense_Mutation_p.R66G|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Missense_Mutation_p.R66G|FETUB_ENST00000450521.1_Missense_Mutation_p.R66G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	66	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity	p.R66*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGACTCAACCGAGTGAACGA	0.572													39	126					0	0	0	0	G	186358445	C	G	186358445	3	3	397	1	0	0	0	0	1	0	0	0	5866	644	23	3	198	3	FETUB	3	186358445	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2879092	186358445	11663985	98	76186											
FGF12	2257	broad.mit.edu	37	chr3	192125893	192125893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggacgtgcctctcgcaCagggagcgcccgtctttgct	5	8	13	15	5	2	0	0	0	2	0	3	3	2	2	3	2	3	2	3	2	0	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:192125893C>T	ENST00000454309.2	-	1	945	c.120G>A	c.(118-120)ctG>ctA	p.L40L	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	40					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.L40L(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GCCTCTCGCACAGGGAGCGCC	0.672													31	94					0	0	0	0	T	192125893	C	T	192125893	2	4	397	1	0	0	0	0	0	0	0	1	5886	465	17	4		4	FGF12	3	192125893	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	5767448	192125893	5896537	99	76187											
ZNF595	152687	broad.mit.edu	37	chr4	59331	59331	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgttttcaggaactcgtAacattcagggatgtggccat	10	13	11	7	1	2	0	2	0	0	0	3	2	2	2	1	3	2	2	1	3	2	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:59331A>T	ENST00000509152.2	+	2	197	c.12A>T	c.(10-12)gtA>gtT	p.V4V	ZNF595_ENST00000526473.2_Silent_p.V4V|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGGAACTCGTAACATTCAGGG	0.408													18	438					0	0	0	0	T	59331	A	T	59331	2	4	397	1	0	0	0	0	0	0	0	1	18120	349	13	5		5	ZNF595	4	59331	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08		59331	191094945	100	76188											
TACC3	10460	broad.mit.edu	37	chr4	1730308	1730308	+	Frame_Shift_Del	DEL	C	C	-																															aggagcggagcaggagaggaCccccccatgccagcttctcg																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1730308delC	ENST00000313288.4	+	4	1285	c.1179delC	c.(1177-1179)gafs	p.D393fs		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	393						centrosome		p.M396fs*17(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGAGAGGACCCCCCCATGC	0.612													12	42	---	---	---	---					-	1730308	C	-	1730308	7	5	397	1	0	1	0	1	0	0	0	0	15594	506	18	0	1189	0	TACC3	4	1730308	Frame_Shift_Del	DEL	C	TCGA-F7-7848-01A-11D-2129-08	1670977	1730308	189423968	101	76189											
WHSC1	7468	broad.mit.edu	37	chr4	1902706	1902706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaaatgaaagggattGggacaccccctaacactacc	14	5	9	13	0	0	1	0	1	0	0	0	4	0	4	4	3	2	0	4	3	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1902706G>T	ENST00000503128.1	+	2	532	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	WHSC1_ENST00000382891.5_Missense_Mutation_p.G109W|WHSC1_ENST00000382892.2_Missense_Mutation_p.G109W|WHSC1_ENST00000382895.3_Missense_Mutation_p.G109W|WHSC1_ENST00000436793.1_Missense_Mutation_p.G109W|WHSC1_ENST00000514045.1_Missense_Mutation_p.G109W|WHSC1_ENST00000508803.1_Missense_Mutation_p.G109W|WHSC1_ENST00000420906.2_Missense_Mutation_p.G109W|WHSC1_ENST00000398261.1_Missense_Mutation_p.G109W			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	109					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAAGGGATTGGGACACCCCC	0.463			T	IGH@	MM								18	54					1.67942e-08	1.9932e-08	1	0	T	1902706	G	T	1902706	3	4	397	1	0	0	0	0	1	0	0	0	17458	1348	47	4	327	4	WHSC1	4	1902706	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	172398	1902706	189251570	102	76190											
WHSC1	7468	broad.mit.edu	37	chr4	1980436	1980436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcattttgccacctctgcCccaattcgttctgtaaggag	7	14	7	13	1	3	0	1	0	2	0	4	1	3	1	4	1	2	2	4	1	2	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1980436C>A	ENST00000382895.3	+	24	4329	c.3898C>A	c.(3898-3900)Ccc>Acc	p.P1300T	WHSC1_ENST00000382891.5_Missense_Mutation_p.P1300T|WHSC1_ENST00000382892.2_Missense_Mutation_p.P1300T|WHSC1_ENST00000508803.1_Missense_Mutation_p.P1300T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.P648T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1300					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCACCTCTGCCCCAATTCGTT	0.562			T	IGH@	MM								10	24					3.86212e-05	4.12753e-05	1	0	A	1980436	C	A	1980436	3	1	397	1	0	0	0	0	1	0	0	0	17458	623	22	4	4056	4	WHSC1	4	1980436	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	77730	1980436	189173840	103	76191											
HTT	3064	broad.mit.edu	37	chr4	3182271	3182271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcagcccatagtccacGacctctttgtattaagagga	10	11	8	12	1	2	1	0	0	2	1	3	3	3	2	3	1	2	2	3	1	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:3182271G>A	ENST00000355072.5	+	36	4787	c.4642G>A	c.(4642-4644)Gac>Aac	p.D1548N		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1548					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.D1548N(2)		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)		CATAGTCCACGACCTCTTTGT	0.443													20	59					0	0	0	0	A	3182271	G	A	3182271	3	1	397	1	0	0	0	0	1	0	0	0	7510	1058	37	1	4784	1	HTT	4	3182271	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1201835	3182271	187972005	104	76192											
WFS1	7466	broad.mit.edu	37	chr4	6302728	6302728	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttcggctggaaccacctGgagccctatgcccatttcct	8	10	8	15	1	0	0	0	0	0	0	2	2	1	2	5	3	4	1	5	3	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:6302728G>C	ENST00000226760.1	+	8	1376	c.1206G>C	c.(1204-1206)ctG>ctC	p.L402L	WFS1_ENST00000503569.1_Silent_p.L402L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	402					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGAACCACCTGGAGCCCTATG	0.607													34	104					0	0	0	0	C	6302728	G	C	6302728	2	2	397	1	0	0	0	0	0	0	0	1	17456	1335	47	4		4	WFS1	4	6302728	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3120457	6302728	184851548	105	76193											
GBA3	57733	broad.mit.edu	37	chr4	22729367	22729367	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtttgtggataactcagCggtcgtaatctgtcataatc	9	15	9	8	2	4	0	2	0	2	0	6	1	4	1	0	2	2	2	0	2	3	4	rs11544900		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:22729367C>T	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATAACTCAGCGGTCGTAATC	0.393													46	136					0	0	0	0	T	22729367	C	T	22729367	1	4	397	0	1	0	0	0	0	0	0	0	6317	783	27	1		1	GBA3	4	22729367	RNA	SNP	C	TCGA-F7-7848-01A-11D-2129-08	16426639	22729367	168424909	106	76194											
GABRA2	2555	broad.mit.edu	37	chr4	46252411	46252411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaaacaaaactggaaaaaCtattctggacattctgtcaa	18	9	5	9	0	3	0	1	0	2	0	3	2	3	2	1	2	3	0	1	2	7	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:46252411C>G	ENST00000510861.1	-	10	1443	c.1270G>C	c.(1270-1272)Gtt>Ctt	p.V424L	GABRA2_ENST00000507069.1_Missense_Mutation_p.V484L|GABRA2_ENST00000381620.4_Missense_Mutation_p.V424L|GABRA2_ENST00000540012.1_Missense_Mutation_p.V429L|GABRA2_ENST00000514090.1_Missense_Mutation_p.V424L|GABRA2_ENST00000356504.1_Missense_Mutation_p.V424L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	424					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGGAAAAACTATTCTGGAC	0.393													34	105					0	0	0	0	G	46252411	C	G	46252411	3	3	397	1	0	0	0	0	1	0	0	0	6209	565	20	4	89	4	GABRA2	4	46252411	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	23523044	46252411	144901865	107	76195											
PDGFRA	5156	broad.mit.edu	37	chr4	55161418	55161418	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatagactcttcagacctGgtggaagacagcttcctgta	10	10	11	10	0	2	3	1	0	1	3	3	4	3	4	2	3	1	3	2	3	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:55161418G>T	ENST00000257290.5	+	23	3580	c.3249G>T	c.(3247-3249)ctG>ctT	p.L1083L	FIP1L1_ENST00000507166.1_Silent_p.L843L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1083	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTTCAGACCTGGTGGAAGACA	0.512			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			34	106					6.29468e-14	8.44912e-14	1	0	T	55161418	G	T	55161418	2	4	397	1	0	0	0	0	0	0	0	1	11732	1335	47	4		4	PDGFRA	4	55161418	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	8909007	55161418	135992858	108	76196											
EXOC1	55763	broad.mit.edu	37	chr4	56763010	56763010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcaaaaatgctgagcGtcgtggagacctggataaag	14	9	11	7	2	2	2	1	1	1	1	3	4	2	3	1	2	2	1	1	2	5	2	rs142941850	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:56763010G>T	ENST00000381295.2	+	16	2429	c.2081G>T	c.(2080-2082)cGt>cTt	p.R694L	EXOC1_ENST00000349598.6_Missense_Mutation_p.R679L|EXOC1_ENST00000346134.7_Missense_Mutation_p.R694L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	694					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AATGCTGAGCGTCGTGGAGAC	0.338													14	49					6.31663e-08	7.34226e-08	1	0	T	56763010	G	T	56763010	3	4	397	1	0	0	0	0	1	0	0	0	5338	1145	40	3	2139	3	EXOC1	4	56763010	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1601592	56763010	134391266	109	76197											
YTHDC1	91746	broad.mit.edu	37	chr4	69184563	69184563	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccacttcctggtatcGtggatcctttaaataccctg	7	14	7	13	1	0	0	0	0	0	0	4	1	3	1	5	2	1	1	5	2	4	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:69184563G>A	ENST00000344157.4	-	13	2037	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.R568*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.R550*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	568	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCCTGGTATCGTGGATCCTTT	0.328													8	92					0	0	0	0	A	69184563	G	A	69184563	4	1	397	1	0	0	0	0	0	1	0	0	17592	1153	40	1	501	1	YTHDC1	4	69184563	Nonsense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	12421553	69184563	121969713	110	76198											
UGT2B15	7366	broad.mit.edu	37	chr4	69519826	69519826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtcctgatgtccacactGagggctgctcccttggcttt	5	13	11	12	0	0	2	0	2	0	0	3	2	3	2	3	3	1	3	3	3	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:69519826G>A	ENST00000338206.5	-	5	1251	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	414					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGTCCACACTGAGGGCTGCTC	0.468													56	167					0	0	0	0	A	69519826	G	A	69519826	2	1	397	1	0	0	0	0	0	0	0	1	17054	1277	45	2		2	UGT2B15	4	69519826	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	335263	69519826	121634450	111	76199											
BTC	685	broad.mit.edu	37	chr4	75675872	75675872	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatctgtcctctgtctccTcttaggtaaaacaagtcaac	12	12	6	11	0	5	1	1	0	4	1	7	1	6	1	2	1	2	1	2	1	6	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:75675872T>A	ENST00000395743.3	-	4	699	c.339A>T	c.(337-339)agA>agT	p.R113S		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	113					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CTCTGTCTCCTCTTAGGTAAA	0.398													36	146					0	0	0	0	A	75675872	T	A	75675872	3	1	397	1	0	0	0	0	1	0	0	0	1558	1548	54	5	205	5	BTC	4	75675872	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	6156046	75675872	115478404	112	76200											
ART3	419	broad.mit.edu	37	chr4	77003168	77003168	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagactcaaatctttctcccTatgaattttaaggataacca	15	13	4	9	0	3	2	1	1	2	1	4	3	3	3	2	1	1	0	2	1	6	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:77003168T>C	ENST00000355810.4	+	3	380	c.261T>C	c.(259-261)ccT>ccC	p.P87P	ART3_ENST00000349321.3_Silent_p.P87P|ART3_ENST00000341029.5_Silent_p.P87P|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	87					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTTCTCCCTATGAATTTTA	0.423													23	57					0	0	0	0	C	77003168	T	C	77003168	2	2	397	1	0	0	0	0	0	0	0	1	1002	1509	53	5		5	ART3	4	77003168	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	1327296	77003168	114151108	113	76201											
GK2	2712	broad.mit.edu	37	chr4	80327826	80327826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggtaacccaacccattGacttcattacggctttcttc	9	13	6	13	1	2	1	1	1	1	0	3	2	2	1	2	2	3	2	2	2	3	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:80327826G>A	ENST00000358842.3	-	1	1546	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	510					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCAACCCATTGACTTCATTAC	0.443													18	78					0	0	0	0	A	80327826	G	A	80327826	3	1	397	1	0	0	0	0	1	0	0	0	6472	1294	45	2	136	2	GK2	4	80327826	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3324658	80327826	110826450	114	76202											
SLC39A8	64116	broad.mit.edu	37	chr4	103225478	103225478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaattaacatatacctgtAgagataccacactgacatta	16	11	6	8	0	0	2	0	1	0	1	0	4	0	3	2	1	3	1	2	1	7	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:103225478A>G	ENST00000424970.2	-	6	1151	c.836T>C	c.(835-837)cTa>cCa	p.L279P	SLC39A8_ENST00000356736.4_Missense_Mutation_p.L279P|SLC39A8_ENST00000394833.2_Missense_Mutation_p.L279P	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	279						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ATATACCTGTAGAGATACCAC	0.348													19	52					0	0	0	0	G	103225478	A	G	103225478	3	3	397	1	0	0	0	0	1	0	0	0	14712	420	15	5	639	5	SLC39A8	4	103225478	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	22897652	103225478	87928798	115	76203											
ANK2	287	broad.mit.edu	37	chr4	114179511	114179511	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgccttcatgggccacTtgaacattgtcctccttctg	5	14	9	13	0	2	1	1	1	1	0	4	1	4	1	4	2	2	1	4	2	1	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:114179511T>C	ENST00000357077.4	+	13	1383	c.1330T>C	c.(1330-1332)Ttg>Ctg	p.L444L	ANK2_ENST00000506722.1_Silent_p.L423L|ANK2_ENST00000394537.3_Silent_p.L444L|ANK2_ENST00000264366.6_Silent_p.L444L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	444					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGGGCCACTTGAACATTGT	0.532													33	69					0	0	0	0	C	114179511	T	C	114179511	2	2	397	1	0	0	0	0	0	0	0	1	621	1606	56	5		5	ANK2	4	114179511	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	10954033	114179511	76974765	116	76204											
NUDT6	11162	broad.mit.edu	37	chr4	123814172	123814172	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtattttcagtcttcgcCaggtcattgagatccatcca	8	15	8	10	1	3	1	2	1	1	1	6	2	5	1	3	1	0	2	3	1	1	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:123814172C>A	ENST00000304430.5	-	5	795	c.762G>T	c.(760-762)ctG>ctT	p.L254L	NUDT6_ENST00000339154.2_Silent_p.L85L|FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000502270.1_Silent_p.L85L	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	254	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CAGTCTTCGCCAGGTCATTGA	0.438													31	87					5.77227e-19	8.10995e-19	1	0	A	123814172	C	A	123814172	2	1	397	1	0	0	0	0	0	0	0	1	10814	581	21	4		4	NUDT6	4	123814172	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	9634661	123814172	67340104	117	76205											
ANKRD50	57182	broad.mit.edu	37	chr4	125593009	125593009	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtaccattccatatcaTccacagagctaactccgctg	11	10	7	13	1	1	1	1	0	0	1	4	1	4	1	4	1	3	3	4	1	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:125593009T>G	ENST00000504087.1	-	4	2460	c.1423A>C	c.(1423-1425)Atg>Ctg	p.M475L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.M296L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	475										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCCATATCATCCACAGAGCT	0.413													30	111					0	0	0	0	G	125593009	T	G	125593009	3	3	397	1	0	0	0	0	1	0	0	0	676	1435	50	5	2870	5	ANKRD50	4	125593009	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	1778837	125593009	65561267	118	76206											
PCDH10	57575	broad.mit.edu	37	chr4	134072306	134072306	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacctgggccccaacgcCgtgcctgcgcactgcaaggt	8	5	13	15	3	0	0	0	0	0	0	0	1	0	1	5	3	4	2	5	3	3	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:134072306C>A	ENST00000264360.4	+	1	1837	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	337	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCCAACGCCGTGCCTGCGC	0.607													25	96					1.85244e-09	2.25798e-09	1	0	A	134072306	C	A	134072306	2	1	397	1	0	0	0	0	0	0	0	1	11578	639	23	3		3	PCDH10	4	134072306	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	8479297	134072306	57081970	119	76207											
MAB21L2	10586	broad.mit.edu	37	chr4	151504976	151504976	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgccacctggagctaccCggccagccgctcaacaacta	10	4	9	18	3	1	0	1	0	0	0	1	2	1	1	6	2	5	2	6	2	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:151504976C>A	ENST00000317605.4	+	1	1900	c.795C>A	c.(793-795)ccC>ccA	p.P265P	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	265					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGGAGCTACCCGGCCAGCCGC	0.627													14	55					0.00185496	0.00192319	1	0	A	151504976	C	A	151504976	2	1	397	1	0	0	0	0	0	0	0	1	9207	639	23	3		3	MAB21L2	4	151504976	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	17432670	151504976	39649300	120	76208											
FGA	2243	broad.mit.edu	37	chr4	155507623	155507623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctcccaggtttccaggTtgcagtccctccagtcccag	7	9	10	15	0	0	1	0	0	0	1	5	1	5	1	5	2	2	4	5	2	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:155507623T>C	ENST00000302053.3	-	5	1036	c.958A>G	c.(958-960)Acc>Gcc	p.T320A	FGA_ENST00000403106.3_Missense_Mutation_p.T320A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	320					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTTTCCAGGTTGCAGTCCCT	0.572													36	114					0	0	0	0	C	155507623	T	C	155507623	3	2	397	1	0	0	0	0	1	0	0	0	5875	1725	60	5	1694	5	FGA	4	155507623	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	4002647	155507623	35646653	121	76209											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632130	156632130	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctgtcccccagcaaaccCcagtcctcgctggtgattcc	6	9	7	19	1	0	1	0	1	0	0	5	1	4	1	7	1	2	2	7	1	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:156632130C>A	ENST00000296518.7	+	6	1022	c.813C>A	c.(811-813)ccC>ccA	p.P271P	GUCY1A3_ENST00000513574.1_Silent_p.P271P|GUCY1A3_ENST00000393832.3_Silent_p.P13P|GUCY1A3_ENST00000511507.1_Silent_p.P271P|GUCY1A3_ENST00000455639.2_Silent_p.P271P|GUCY1A3_ENST00000506455.1_Silent_p.P271P|GUCY1A3_ENST00000511108.1_Silent_p.P271P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	271					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCAGCAAACCCCAGTCCTCGC	0.463													21	67					3.83957e-06	4.23385e-06	1	0	A	156632130	C	A	156632130	2	1	397	1	0	0	0	0	0	0	0	1	6944	610	22	4		4	GUCY1A3	4	156632130	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1124507	156632130	34522146	122	76210											
FSTL5	56884	broad.mit.edu	37	chr4	162376271	162376271	+	Frame_Shift_Del	DEL	G	G	-																															aggcacattcccactggccaGggtaattacctaaagagaac																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:162376271delG	ENST00000306100.5	-	15	2162	c.1726delC	c.(1726-1728)tgfs	p.L576fs	FSTL5_ENST00000536695.1_Frame_Shift_Del_p.L575fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.L575fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.L566fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	576						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCACTGGCCAGGGTAATTACC	0.403													10	30	---	---	---	---					-	162376271	G	-	162376271	7	5	397	1	0	1	0	1	0	0	0	0	6128	991	35	0	825	0	FSTL5	4	162376271	Frame_Shift_Del	DEL	G	TCGA-F7-7848-01A-11D-2129-08	5744141	162376271	28778005	123	76211											
FSTL5	56884	broad.mit.edu	37	chr4	162841715	162841715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacaggcacattctgcttGccctgtctctctgctggtaa	7	13	8	13	0	3	0	0	0	3	0	4	0	3	0	1	2	4	4	1	2	2	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:162841715G>T	ENST00000306100.5	-	4	686	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	FSTL5_ENST00000536695.1_Missense_Mutation_p.Q83K|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q83K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q83K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	84	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATTCTGCTTGCCCTGTCTCT	0.443													13	35					2.61681e-11	3.33385e-11	1	0	T	162841715	G	T	162841715	3	4	397	1	0	0	0	0	1	0	0	0	6128	1328	46	4	2345	4	FSTL5	4	162841715	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	465444	162841715	28312561	124	76212											
NPY1R	4886	broad.mit.edu	37	chr4	164247554	164247554	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagagacaccaagaatGatcacagctccataagcaag	16	7	7	11	0	1	3	1	1	0	2	3	4	3	3	3	0	2	2	3	0	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:164247554G>T	ENST00000296533.2	-	2	684	c.153C>A	c.(151-153)atC>atA	p.I51I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	51					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACCAAGAATGATCACAGCTC	0.413													25	71					1.85244e-09	2.25798e-09	1	0	T	164247554	G	T	164247554	2	4	397	1	0	0	0	0	0	0	0	1	10679	1280	45	2		2	NPY1R	4	164247554	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1405839	164247554	26906722	125	76213											
SPOCK3	50859	broad.mit.edu	37	chr4	167663155	167663155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctattactcacctaggagCttctttaccccttgccgctt	7	15	5	14	1	3	0	1	0	2	0	3	1	3	1	4	1	4	2	4	1	4	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:167663155C>A	ENST00000357154.3	-	10	1133	c.996G>T	c.(994-996)aaG>aaT	p.K332N	SPOCK3_ENST00000534949.1_Missense_Mutation_p.K236N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.K329N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Missense_Mutation_p.K289N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.K234N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.K281N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.K329N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.K234N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.K212N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.K329N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.K200N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.K332N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	332	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACCTAGGAGCTTCTTTACCC	0.378													32	58					9.93527e-08	1.14599e-07	1	0	A	167663155	C	A	167663155	3	1	397	1	0	0	0	0	1	0	0	0	15171	796	28	4	326	4	SPOCK3	4	167663155	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	3415601	167663155	23491121	126	76214											
PDLIM3	27295	broad.mit.edu	37	chr4	186446225	186446225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttaatcctgtcctgcGcatcagcatgagtcatggac	8	12	9	12	1	2	1	2	1	0	0	4	2	4	2	2	1	3	3	2	1	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:186446225G>A	ENST00000284767.5	-	2	261	c.194C>T	c.(193-195)gCg>gTg	p.A65V	PDLIM3_ENST00000284770.5_Missense_Mutation_p.A65V|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A65V			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	65	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CCTGTCCTGCGCATCAGCATG	0.493													39	70					0	0	0	0	A	186446225	G	A	186446225	3	1	397	1	0	0	0	0	1	0	0	0	11752	1087	38	1	1120	1	PDLIM3	4	186446225	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	18783070	186446225	4708051	127	76215											
KLKB1	3818	broad.mit.edu	37	chr4	187155174	187155174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgaacaggtgcagtttCtggacattccttgaagcaat	12	11	9	9	1	1	1	0	1	1	0	3	3	2	2	1	2	3	3	1	2	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:187155174C>A	ENST00000264690.6	+	4	477	c.290C>A	c.(289-291)tCt>tAt	p.S97Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.S97Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	97	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTGCAGTTTCTGGACATTCC	0.368													19	64					7.45023e-12	9.68315e-12	1	0	A	187155174	C	A	187155174	3	1	397	1	0	0	0	0	1	0	0	0	8464	913	32	2	300	2	KLKB1	4	187155174	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	708949	187155174	3999102	128	76216											
CTNND2	1501	broad.mit.edu	37	chr5	11082943	11082943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttcggacagcggctcGgatatatactgaccactgca	9	11	9	12	3	1	1	0	1	1	0	3	3	1	3	1	3	3	2	1	3	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:11082943G>A	ENST00000304623.8	-	16	2842	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R452*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R548*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R827*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R794*|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	885					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACAGCGGCTCGGATATATACT	0.547													6	49					0	0	0	0	A	11082943	G	A	11082943	4	1	397	1	0	0	0	0	0	1	0	0	4052	1124	39	1	1052	1	CTNND2	5	11082943	Nonsense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08		11082943	169832317	129	76217											
CDH12	1010	broad.mit.edu	37	chr5	21752113	21752113	+	Silent	SNP	G	G	T																															atgtctgtgttatcttccatGggtggtctctgacgaggtaa																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:21752113G>T	ENST00000382254.1	-	15	3204	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.P666P|CDH12_ENST00000504376.2_Silent_p.P706P|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATCTTCCATGGGTGGTCTCT	0.453										HNSCC(59;0.17)			20	80					4.72057e-08	5.50124e-08	1	0	T	21752113	G	T	21752113	2	4	397	1	0	0	0	0	0	0	0	1	3127	1335	47	4		4	CDH12	5	21752113	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	10669170	21752113	159163147	130	76218	1022	2									
CDH12	1010	broad.mit.edu	37	chr5	21752115	21752115	+	Missense_Mutation	SNP	G	G	T																															gtctgtgttatcttccatggGtggtctctgacgaggtaaac																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:21752115G>T	ENST00000382254.1	-	15	3202	c.2116C>A	c.(2116-2118)Ccc>Acc	p.P706T	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.P666T|CDH12_ENST00000504376.2_Missense_Mutation_p.P706T|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTCCATGGGTGGTCTCTGA	0.448										HNSCC(59;0.17)			21	81					7.07758e-08	8.20563e-08	1	0	T	21752115	G	T	21752115	3	4	397	1	0	0	0	0	1	0	0	0	3127	1261	44	4	272	4	CDH12	5	21752115	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2	21752115	159163145	131	76219	1022	2									
CDH9	1007	broad.mit.edu	37	chr5	26903772	26903772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagttataatcccttcctGtgtatccttgtcagtgatga	9	15	8	9	0	1	2	1	2	0	0	4	3	4	2	3	0	0	2	3	0	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:26903772G>T	ENST00000231021.4	-	6	1145	c.973C>A	c.(973-975)Cag>Aag	p.Q325K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	325	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCCCTTCCTGTGTATCCTTG	0.398													55	154					6.3237e-29	9.08277e-29	1	0	T	26903772	G	T	26903772	3	4	397	1	0	0	0	0	1	0	0	0	3146	1386	48	4	1424	4	CDH9	5	26903772	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	5151657	26903772	154011488	132	76220											
CDH9	1007	broad.mit.edu	37	chr5	26988327	26988327	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcatcttttgtcagaccCgctatctttttgcttgataa	7	17	6	11	2	4	2	2	1	2	1	4	2	4	2	2	0	1	2	2	0	2	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:26988327C>A	ENST00000231021.4	-	2	286	c.114G>T	c.(112-114)gcG>gcT	p.A38A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	38			A -> V (in dbSNP:rs2288466).		adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTGTCAGACCCGCTATCTTTT	0.393													18	42					4.75885e-15	6.52353e-15	1	0	A	26988327	C	A	26988327	2	1	397	1	0	0	0	0	0	0	0	1	3146	639	23	3		3	CDH9	5	26988327	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	84555	26988327	153926933	133	76221											
PDZD2	23037	broad.mit.edu	37	chr5	31799682	31799682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaagaagaggaaaacccaCcagggtcctgtgctggatgt	12	6	14	9	0	0	2	0	0	0	2	1	4	1	4	3	4	2	2	3	4	4	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:31799682C>A	ENST00000438447.1	+	2	715	c.327C>A	c.(325-327)caC>caA	p.H109Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.H109Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	109	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAAACCCACCAGGGTCCTG	0.587													17	63					4.7546e-09	5.7182e-09	1	0	A	31799682	C	A	31799682	3	1	397	1	0	0	0	0	1	0	0	0	11772	506	18	4	329	4	PDZD2	5	31799682	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	4811355	31799682	149115578	134	76222											
UGT3A1	133688	broad.mit.edu	37	chr5	35965518	35965518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttaataggtttttccatCaagcctccaatataaacagt	13	14	6	8	0	1	0	1	0	0	0	3	0	3	0	3	2	2	2	3	2	7	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:35965518C>T	ENST00000274278.3	-	4	1170	c.813G>A	c.(811-813)ttG>ttA	p.L271L	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Silent_p.L271L|UGT3A1_ENST00000333811.4_Silent_p.L217L|UGT3A1_ENST00000507113.1_Silent_p.L237L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	271						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTTTCCATCAAGCCTCCAA	0.448													12	48					0	0	0	0	T	35965518	C	T	35965518	2	4	397	1	0	0	0	0	0	0	0	1	17059	825	29	2		2	UGT3A1	5	35965518	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	4165836	35965518	144949742	135	76223											
SKIV2L2	23517	broad.mit.edu	37	chr5	54683820	54683820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcctaactctggtgaactgGatcctttgtatgtagtagaa	11	13	10	7	0	1	2	0	1	1	1	2	3	2	3	2	2	3	3	2	2	6	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:54683820G>A	ENST00000230640.5	+	19	2325	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D590N	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	691					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGGTGAACTGGATCCTTTGTA	0.373													12	52					0	0	0	0	A	54683820	G	A	54683820	3	1	397	1	0	0	0	0	1	0	0	0	14448	1174	41	2	2145	2	SKIV2L2	5	54683820	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	18718302	54683820	126231440	136	76224											
ACTBL2	345651	broad.mit.edu	37	chr5	56777903	56777903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagcttctctttgacatctCgcacaatctcccgctcagca	9	11	5	16	2	4	1	1	1	3	0	7	1	4	1	1	0	2	4	1	0	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:56777903C>T	ENST00000423391.1	-	1	733	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	211						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTTGACATCTCGCACAATCTC	0.552													26	74					0	0	0	0	T	56777903	C	T	56777903	3	4	397	1	0	0	0	0	1	0	0	0	194	884	31	1	502	1	ACTBL2	5	56777903	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2094083	56777903	124137357	137	76225											
YTHDC2	64848	broad.mit.edu	37	chr5	112920103	112920103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggaccgatcagatcagtCttctctgaaatctacagaca	13	10	8	10	1	5	4	2	2	3	2	6	6	5	5	1	1	1	0	1	1	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:112920103C>T	ENST00000161863.4	+	26	3965	c.3752C>T	c.(3751-3753)tCt>tTt	p.S1251F		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1251	Ser-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCAGATCAGTCTTCTCTGAAA	0.428													28	53					0	0	0	0	T	112920103	C	T	112920103	3	4	397	1	0	0	0	0	1	0	0	0	17593	913	32	2	3854	2	YTHDC2	5	112920103	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	56142200	112920103	67995157	138	76226											
FBN2	2201	broad.mit.edu	37	chr5	127730926	127730926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggagctcttgtgcacagcGgccattcaccaggcccgaga	8	6	13	14	3	2	1	1	0	1	1	2	3	2	2	3	3	3	2	3	3	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:127730926G>C	ENST00000508053.1	-	15	2094	c.1120C>G	c.(1120-1122)Cgc>Ggc	p.R374G	FBN2_ENST00000508989.1_Missense_Mutation_p.R341G|FBN2_ENST00000262464.4_Missense_Mutation_p.R374G			P35556	FBN2_HUMAN	fibrillin 2	374	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTGCACAGCGGCCATTCACC	0.517													7	16					0	0	0	0	C	127730926	G	C	127730926	3	2	397	1	0	0	0	0	1	0	0	0	5748	1116	39	3	7846	3	FBN2	5	127730926	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	14810823	127730926	53184334	139	76227											
SPOCK1	6695	broad.mit.edu	37	chr5	136476329	136476329	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtcctgggtcacacacActttgtgagggctgcatttt	7	13	12	9	0	1	1	1	1	0	0	2	1	2	1	1	3	1	3	1	3	1	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:136476329A>C	ENST00000394945.1	-	4	456	c.287T>G	c.(286-288)gTg>gGg	p.V96G	SPOCK1_ENST00000282223.7_Missense_Mutation_p.V96G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	96					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTCACACACACTTTGTGAGG	0.612													4	10					0	0	0	0	C	136476329	A	C	136476329	3	2	397	1	0	0	0	0	1	0	0	0	15169	159	6	5	1064	5	SPOCK1	5	136476329	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	8745403	136476329	44438931	140	76228											
CDHR2	54825	broad.mit.edu	37	chr5	176004720	176004720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacattaatgaccacaggcCcacgtttccccagagcttgt	11	9	8	13	1	0	3	0	1	0	2	1	3	1	3	4	1	1	2	4	1	1	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:176004720C>A	ENST00000510636.1	+	14	1707	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	CDHR2_ENST00000261944.5_Missense_Mutation_p.P478H|CDHR2_ENST00000506348.1_Missense_Mutation_p.P478H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	478	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCACAGGCCCACGTTTCCC	0.602													13	15					4.3838e-07	4.99266e-07	1	0	A	176004720	C	A	176004720	3	1	397	1	0	0	0	0	1	0	0	0	3148	623	22	4	1483	4	CDHR2	5	176004720	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	39528391	176004720	4910540	141	76229											
NSD1	64324	broad.mit.edu	37	chr5	176638682	176638682	+	Frame_Shift_Del	DEL	G	G	-																															gaggatccccttcagataatGggccacttaacaagtgaaga																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:176638682delG	ENST00000439151.2	+	5	3327	c.3282delG	c.(3280-3282)atfs	p.M1094fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.M825fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.M825fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.M991fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1094					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCAGATAATGGGCCACTTAA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			33	35	---	---	---	---					-	176638682	G	-	176638682	7	5	397	1	0	1	0	1	0	0	0	0	10740	1348	47	0	3296	0	NSD1	5	176638682	Frame_Shift_Del	DEL	G	TCGA-F7-7848-01A-11D-2129-08	633962	176638682	4276578	142	76230											
TPMT	7172	broad.mit.edu	37	chr6	18148147	18148147	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatgcttctttaatagcCtgaagaggaaaaaaaaaaag	20	9	7	5	0	1	2	0	1	1	1	1	3	1	3	1	1	2	1	1	1	10	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:18148147C>G	ENST00000309983.4	-	3	226		c.e3-1			NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase						xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	CTTTAATAGCCTGAAGAGGAA	0.353													19	72					0	0	0	0	G	18148147	C	G	18148147	5	3	397	1	0	0	0	0	0	0	1	0	16504	695	24	4	625	4	TPMT	6	18148147	Splice_Site	SNP	C	TCGA-F7-7848-01A-11D-2129-08		18148147	152966920	143	76231											
SOX4	6659	broad.mit.edu	37	chr6	21595659	21595659	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgaagcgcgtctacctGttcggcggcctgggcacgtc	6	8	15	12	5	1	1	0	1	1	0	3	1	1	1	2	4	2	2	2	4	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:21595659G>T	ENST00000244745.1	+	1	1688	c.894G>T	c.(892-894)ctG>ctT	p.L298L	SOX4_ENST00000543472.1_Silent_p.L298L	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	298					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein 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			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCGTCTACCTGTTCGGCGGCC	0.766													2	2					6.4e-05	6.80755e-05	1	0	T	21595659	G	T	21595659	2	4	397	1	0	0	0	0	0	0	0	1	15041	1364	48	4		4	SOX4	6	21595659	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3447512	21595659	149519408	144	76232											
HDGFL1	154150	broad.mit.edu	37	chr6	22570038	22570038	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcgcggcttcagcgcgggGctgtgggaaatcgagaacaa	10	5	17	9	5	1	1	1	0	0	1	2	3	1	2	0	5	2	2	0	5	3	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:22570038G>T	ENST00000510882.2	+	1	244	c.234G>T	c.(232-234)ggG>ggT	p.G78G	HDGFL1_ENST00000230012.3_Silent_p.G78G			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	78										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TCAGCGCGGGGCTGTGGGAAA	0.652													7	14					2.0095e-06	2.22674e-06	1	0	T	22570038	G	T	22570038	2	4	397	1	0	0	0	0	0	0	0	1	7069	1190	42	4		4	HDGFL1	6	22570038	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	974379	22570038	148545029	145	76233											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107876	26107876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttcttggctctcttattgGttttagcagtctttggtgac	4	19	10	8	0	3	1	0	1	3	0	4	1	3	1	0	3	1	4	0	3	2	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:26107876G>T	ENST00000338379.4	-	1	488	c.446C>A	c.(445-447)aCc>aAc	p.T149N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	149					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TCTCTTATTGGTTTTAGCAGT	0.468													33	88					2.61193e-14	3.52689e-14	1	0	T	26107876	G	T	26107876	3	4	397	1	0	0	0	0	1	0	0	0	7177	1261	44	4	181	4	HIST1H1T	6	26107876	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3537838	26107876	145007191	146	76234											
BTN3A3	10384	broad.mit.edu	37	chr6	26452000	26452000	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagccgcgggatctgccAgacaaccctgagagatttga	12	6	13	10	2	1	5	0	2	1	3	1	8	1	6	3	1	3	0	3	1	2	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:26452000A>T	ENST00000244519.2	+	11	1359	c.1116A>T	c.(1114-1116)ccA>ccT	p.P372P	BTN3A3_ENST00000339789.4_Silent_p.P330P|BTN3A3_ENST00000361232.3_Silent_p.P323P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	372	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGGATCTGCCAGACAACCCTG	0.537													23	58					0	0	0	0	T	26452000	A	T	26452000	2	4	397	1	0	0	0	0	0	0	0	1	1573	175	7	5		5	BTN3A3	6	26452000	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	344124	26452000	144663067	147	76235											
OR2B3	442184	broad.mit.edu	37	chr6	29054757	29054757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccagcatagctgatggtcTttttgttgcaaccaatattt	10	15	8	8	0	1	1	0	1	1	0	1	1	1	1	2	1	5	4	2	1	4	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:29054757T>C	ENST00000377173.2	-	1	333	c.269A>G	c.(268-270)aAg>aGg	p.K90R		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GCTGATGGTCTTTTTGTTGCA	0.443													24	77					0	0	0	0	C	29054757	T	C	29054757	3	2	397	1	0	0	0	0	1	0	0	0	11061	1609	56	5	676	5	OR2B3	6	29054757	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	2602757	29054757	142060310	148	76236											
OR12D2	26529	broad.mit.edu	37	chr6	29364491	29364491	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgatgctgaatacaacCtcagtcaccgaatttctcct	12	11	7	11	1	3	2	2	2	1	0	4	4	3	2	3	0	3	1	3	0	5	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:29364491C>G	ENST00000383555.2	+	1	76	c.15C>G	c.(13-15)acC>acG	p.T5T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGAATACAACCTCAGTCACCG	0.428													48	154					0	0	0	0	G	29364491	C	G	29364491	2	3	397	1	0	0	0	0	0	0	0	1	11002	668	24	4		4	OR12D2	6	29364491	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	309734	29364491	141750576	149	76237											
LTA	4049	broad.mit.edu	37	chr6	31540554	31540554	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctcttcctcccaagggTgtgtggcaccaccctacacc	7	9	8	17	1	1	0	0	0	1	0	4	0	3	0	5	2	1	1	5	2	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:31540554T>G	ENST00000454783.1	+	2	293	c.35T>G	c.(34-36)gTg>gGg	p.V12G	LTA_ENST00000418386.2_Missense_Mutation_p.V12G	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	12					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTCCCAAGGGTGTGTGGCACC	0.647													16	51					0	0	0	0	G	31540554	T	G	31540554	3	3	397	1	0	0	0	0	1	0	0	0	9132	1696	59	5	37	5	LTA	6	31540554	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	2176063	31540554	139574513	150	76238											
MOCS1	4337	broad.mit.edu	37	chr6	39874378	39874378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggctcagggccacgtGgtggcacagagggatcagct	8	7	17	9	1	2	1	2	0	0	1	2	3	2	2	1	5	1	3	1	5	0	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:39874378G>A	ENST00000308559.7	-	10	1751	c.1618C>T	c.(1618-1620)Cac>Tac	p.H540Y	MOCS1_ENST00000425303.2_Missense_Mutation_p.H556Y|MOCS1_ENST00000373195.3_Missense_Mutation_p.H453Y|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.H556Y|MOCS1_ENST00000373186.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	556	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGGCCACGTGGTGGCACAGA	0.652													13	53					0	0	0	0	A	39874378	G	A	39874378	3	1	397	1	0	0	0	0	1	0	0	0	9760	1363	47	4		4	MOCS1	6	39874378	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	8333824	39874378	131240689	151	76239											
NCR2	9436	broad.mit.edu	37	chr6	41303865	41303865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggtacttcaaagtgtGgcagggcagacgctaaccgt	10	8	13	10	2	2	1	2	0	0	1	2	1	2	1	1	3	2	5	1	3	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:41303865G>A	ENST00000373083.4	+	2	315	c.93G>A	c.(91-93)gtG>gtA	p.V31V	NCR2_ENST00000373089.5_Silent_p.V31V|NCR2_ENST00000373086.3_Silent_p.V31V	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	31	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTCAAAGTGTGGCAGGGCAGA	0.557													12	45					0	0	0	0	A	41303865	G	A	41303865	2	1	397	1	0	0	0	0	0	0	0	1	10308	1335	47	4		4	NCR2	6	41303865	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1429487	41303865	129811202	152	76240											
RHAG	6005	broad.mit.edu	37	chr6	49580244	49580244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtggcattctgaatgtGaacctgtgtgagcggcagaa	11	9	15	6	1	1	4	0	3	1	1	1	4	1	4	1	3	2	2	1	3	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:49580244G>T	ENST00000371175.4	-	6	837	c.811C>A	c.(811-813)Cac>Aac	p.H271N	RHAG_ENST00000229810.7_Missense_Mutation_p.H271N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	271					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTCTGAATGTGAACCTGTGTG	0.473													9	41					0.000442599	0.000463138	1	0	T	49580244	G	T	49580244	3	4	397	1	0	0	0	0	1	0	0	0	13398	1290	45	2	438	2	RHAG	6	49580244	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	8276379	49580244	121534823	153	76241											
PKHD1	5314	broad.mit.edu	37	chr6	51768526	51768526	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttccatgtcctgaccagtCtaatgtttcaacaaatccag	12	13	5	11	0	2	1	1	1	1	0	5	1	5	1	4	0	1	1	4	0	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:51768526C>T	ENST00000371117.3	-	43	7141		c.e43-1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGACCAGTCTAATGTTTCA	0.398													25	63					0	0	0	0	T	51768526	C	T	51768526	5	4	397	1	0	0	0	0	0	0	1	0	12043	927	32	2	5498	2	PKHD1	6	51768526	Splice_Site	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2188282	51768526	119346541	154	76242											
KHDRBS2	202559	broad.mit.edu	37	chr6	62442586	62442586	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttagatagcaaatgccttaCctttgtgtttgggtcgcata	9	16	9	7	1	0	1	0	0	0	1	1	1	0	1	2	1	3	3	2	1	5	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:62442586C>A	ENST00000281156.4	-	7	1172		c.e7+1			NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAATGCCTTACCTTTGTGTTT	0.373													16	49					1.15088e-07	1.31737e-07	1	0	A	62442586	C	A	62442586	5	1	397	1	0	0	0	0	0	0	1	0	8198	521	18	4	167	4	KHDRBS2	6	62442586	Splice_Site	SNP	C	TCGA-F7-7848-01A-11D-2129-08	10674060	62442586	108672481	155	76243											
EYS	346007	broad.mit.edu	37	chr6	66200507	66200507	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaattgctcatcacatTcacaaatgaaactatttgaa	17	12	4	8	0	3	3	3	3	0	0	3	3	3	3	0	0	2	1	0	0	6	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:66200507T>A	ENST00000503581.1	-	5	1379	c.842A>T	c.(841-843)gAa>gTa	p.E281V	EYS_ENST00000370621.3_Missense_Mutation_p.E281V|EYS_ENST00000370616.2_Missense_Mutation_p.E281V|EYS_ENST00000393380.2_Missense_Mutation_p.E281V|EYS_ENST00000370618.3_Missense_Mutation_p.E281V|EYS_ENST00000342421.5_Missense_Mutation_p.E281V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	281	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCATCACATTCACAAATGAA	0.294													14	28					0	0	0	0	A	66200507	T	A	66200507	3	1	397	1	0	0	0	0	1	0	0	0	5370	1783	62	5	8710	5	EYS	6	66200507	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	3757921	66200507	104914560	156	76244											
ZNF292	23036	broad.mit.edu	37	chr6	87928336	87928336	+	Frame_Shift_Del	DEL	A	A	-																															agctcatgaaaagctgatggAgaatggcagctgtgaattgc																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:87928336delA	ENST00000369577.3	+	4	468	c.425delA	c.(424-426)ggfs	p.E142fs	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E142fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGCTGATGGAGAATGGCAGC	0.368													2	4	---	---	---	---					-	87928336	A	-	87928336	7	5	397	1	0	1	0	1	0	0	0	0	17921	304	11	0	439	0	ZNF292	6	87928336	Frame_Shift_Del	DEL	A	TCGA-F7-7848-01A-11D-2129-08	21727829	87928336	83186731	157	76245											
BACH2	60468	broad.mit.edu	37	chr6	90660481	90660481	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaactgctcaccccagaAtaagaatgcaccgaggtgct	13	7	8	13	1	1	2	1	0	0	2	2	3	2	2	4	1	4	3	4	1	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:90660481A>G	ENST00000257749.4	-	7	2051	c.1344T>C	c.(1342-1344)taT>taC	p.Y448Y	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.Y448Y|BACH2_ENST00000343122.3_Silent_p.Y448Y|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	448						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCACCCCAGAATAAGAATGCA	0.607													19	55					0	0	0	0	G	90660481	A	G	90660481	2	3	397	1	0	0	0	0	0	0	0	1	1288	108	4	5		5	BACH2	6	90660481	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	2732145	90660481	80454586	158	76246											
KLHL32	114792	broad.mit.edu	37	chr6	97512561	97512561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgggcagtcacctacagCtgttggagcttctcaattta	9	11	10	11	1	2	0	2	0	1	0	3	1	2	1	1	2	4	4	1	2	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:97512561C>A	ENST00000369261.4	+	5	733	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.L88M	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	124										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCACCTACAGCTGTTGGAGCT	0.443													6	27					0.0215528	0.0218434	1	0	A	97512561	C	A	97512561	3	1	397	1	0	0	0	0	1	0	0	0	8438	796	28	4	384	4	KLHL32	6	97512561	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	6852080	97512561	73602506	159	76247											
COL10A1	1300	broad.mit.edu	37	chr6	116442113	116442113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctggttttcctgggtacCctggttttccatctgaccca	5	14	9	13	0	1	1	0	1	1	0	3	2	3	1	5	3	1	3	5	3	1	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:116442113C>T	ENST00000327673.4	-	2	1573	c.1166G>A	c.(1165-1167)gGg>gAg	p.G389E	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.G389E			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	389	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCCTGGGTACCCTGGTTTTCC	0.597													18	35					0	0	0	0	T	116442113	C	T	116442113	3	4	397	1	0	0	0	0	1	0	0	0	3696	623	22	4	880	4	COL10A1	6	116442113	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	18929552	116442113	54672954	160	76248											
ROS1	6098	broad.mit.edu	37	chr6	117629982	117629982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcaggacaatttcttggtgGctccagtctccctcctgttt	6	15	8	12	0	3	0	1	0	2	0	6	1	5	1	3	3	0	2	3	3	1	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:117629982G>A	ENST00000368508.3	-	41	6742	c.6544C>T	c.(6544-6546)Cca>Tca	p.P2182S	ROS1_ENST00000368507.3_Missense_Mutation_p.P2176S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2182	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTCTTGGTGGCTCCAGTCTC	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								15	48					0	0	0	0	A	117629982	G	A	117629982	3	1	397	1	0	0	0	0	1	0	0	0	13616	1203	42	4	511	4	ROS1	6	117629982	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1187869	117629982	53485085	161	76249											
FAM184A	79632	broad.mit.edu	37	chr6	119337960	119337960	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattactgtggacagcttcAattgccatatggtgcttcca	9	13	9	10	0	1	0	1	0	0	0	2	1	2	1	2	2	4	3	2	2	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:119337960A>T	ENST00000338891.7	-	5	1925	c.1482T>A	c.(1480-1482)atT>atA	p.I494I	FAM184A_ENST00000352896.5_Silent_p.I374I|FAM184A_ENST00000368475.4_Silent_p.I374I|FAM184A_ENST00000522284.1_Silent_p.I374I|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Silent_p.I494I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	494										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GGACAGCTTCAATTGCCATAT	0.343													10	58					0	0	0	0	T	119337960	A	T	119337960	2	4	397	1	0	0	0	0	0	0	0	1	5553	126	5	5		5	FAM184A	6	119337960	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	1707978	119337960	51777107	162	76250											
LAMA2	3908	broad.mit.edu	37	chr6	129621910	129621910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcatctgggtaataatTgtgacccaaagactgggcga	11	11	11	8	1	2	2	1	1	2	1	3	3	2	2	1	2	0	2	1	2	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:129621910T>A	ENST00000421865.2	+	22	3116	c.3067T>A	c.(3067-3069)Tgt>Agt	p.C1023S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1023	Laminin EGF-like 11.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGGTAATAATTGTGACCCAAA	0.423													24	55					0	0	0	0	A	129621910	T	A	129621910	3	1	397	1	0	0	0	0	1	0	0	0	8659	1812	63	5	3153	5	LAMA2	6	129621910	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	10283950	129621910	41493157	163	76251											
ENPP3	5169	broad.mit.edu	37	chr6	132059244	132059244	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggagtaaatgtggttagTggaccaatatttgattataa	15	14	10	2	0	0	1	0	1	0	0	0	3	0	3	1	3	0	2	1	3	8	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:132059244T>C	ENST00000414305.1	+	24	2569	c.2241T>C	c.(2239-2241)agT>agC	p.S747S	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.S747S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	747	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGTGGTTAGTGGACCAATAT	0.313													20	50					0	0	0	0	C	132059244	T	C	132059244	2	2	397	1	0	0	0	0	0	0	0	1	5169	1693	59	5		5	ENPP3	6	132059244	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	2437334	132059244	39055823	164	76252											
EYA4	2070	broad.mit.edu	37	chr6	133846193	133846193	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtatagtgtccagatttggCactaacataacttatgttgt	11	15	8	7	1	0	1	0	0	0	1	1	1	1	1	1	1	2	3	1	1	5	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:133846193C>G	ENST00000355167.3	+	19	2237	c.1779C>G	c.(1777-1779)ggC>ggG	p.G593G	EYA4_ENST00000355286.6_Intron|EYA4_ENST00000430974.2_Silent_p.G545G|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000525849.1_Silent_p.G570G|EYA4_ENST00000452339.2_Silent_p.G539G|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Silent_p.G593G	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	593					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGATTTGGCACTAACATAA	0.413													23	66					0	0	0	0	G	133846193	C	G	133846193	2	3	397	1	0	0	0	0	0	0	0	1	5369	697	25	4		4	EYA4	6	133846193	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1786949	133846193	37268874	165	76253											
GRM1	2911	broad.mit.edu	37	chr6	146625950	146625950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttccaggacaccttcTggaaaatcccaactttaaac	12	9	5	15	1	1	0	0	0	1	0	3	2	3	2	5	2	2	0	5	2	5	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:146625950T>C	ENST00000392299.2	+	4	1624	c.1154T>C	c.(1153-1155)cTg>cCg	p.L385P	GRM1_ENST00000361719.2_Missense_Mutation_p.L385P|GRM1_ENST00000282753.1_Missense_Mutation_p.L385P|GRM1_ENST00000355289.4_Missense_Mutation_p.L385P|GRM1_ENST00000507907.1_Missense_Mutation_p.L385P|GRM1_ENST00000492807.2_Missense_Mutation_p.L385P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	385					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGACACCTTCTGGAAAATCCC	0.443													18	37					0	0	0	0	C	146625950	T	C	146625950	3	2	397	1	0	0	0	0	1	0	0	0	6846	1580	55	5	1164	5	GRM1	6	146625950	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	12779757	146625950	24489117	166	76254											
SYNE1	23345	broad.mit.edu	37	chr6	152551704	152551704	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtctttcagtgcatttTgaacagaagcctgatctcca	11	12	8	10	0	3	3	1	2	2	1	4	4	3	3	2	0	3	1	2	0	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:152551704T>G	ENST00000367255.5	-	115	21774	c.21173A>C	c.(21172-21174)cAa>cCa	p.Q7058P	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6987P|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1582P|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q7058P|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6987P|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6670P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7058					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTGCATTTTGAACAGAAGC	0.383										HNSCC(10;0.0054)			60	106					0	0	0	0	G	152551704	T	G	152551704	3	3	397	1	0	0	0	0	1	0	0	0	15536	1812	63	5	5421	5	SYNE1	6	152551704	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	5925754	152551704	18563363	167	76255											
SYNE1	23345	broad.mit.edu	37	chr6	152652970	152652970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atactttctctcctgcaatgCcaatgctaactttttcaaag	11	15	4	11	0	2	0	1	0	1	0	4	0	3	0	2	0	5	2	2	0	5	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:152652970C>A	ENST00000367255.5	-	78	13451	c.12850G>T	c.(12850-12852)Gca>Tca	p.A4284S	SYNE1_ENST00000423061.1_Missense_Mutation_p.A4213S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4284S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4213S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4149S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4284					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTGCAATGCCAATGCTAAC	0.373										HNSCC(10;0.0054)			34	86					3.90053e-15	5.36322e-15	1	0	A	152652970	C	A	152652970	3	1	397	1	0	0	0	0	1	0	0	0	15536	739	26	4	13892	4	SYNE1	6	152652970	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	101266	152652970	18462097	168	76256											
OPRM1	4988	broad.mit.edu	37	chr6	154360660	154360660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctacctcgcacagcggtgCccgcccggccgtcagtacca	6	5	12	18	5	1	0	1	0	0	0	2	0	1	0	5	3	4	3	5	3	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:154360660C>G	ENST00000434900.2	+	3	778	c.260C>G	c.(259-261)gCc>gGc	p.A87G	OPRM1_ENST00000229768.5_5'UTR|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000414028.2_5'UTR|OPRM1_ENST00000330432.7_5'UTR|OPRM1_ENST00000435918.2_5'UTR|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000337049.4_5'UTR|OPRM1_ENST00000452687.2_5'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000524163.1_5'UTR|OPRM1_ENST00000419506.2_5'UTR|OPRM1_ENST00000360422.4_5'UTR|OPRM1_ENST00000428397.2_5'UTR	NM_001145279.2	NP_001138751.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	0					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CACAGCGGTGCCCGCCCGGCC	0.632													3	8					0	0	0	0	G	154360660	C	G	154360660	3	3	397	1	0	0	0	0	1	0	0	0	10958	739	26	4	317	4	OPRM1	6	154360660	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1707690	154360660	16754407	169	76257											
ZNF12	7559	broad.mit.edu	37	chr7	6731759	6731759	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatttcccacattcacTgcattcatagggcttcattt	10	14	7	10	0	3	0	3	0	0	0	4	2	4	1	1	2	1	2	1	2	2	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:6731759T>A	ENST00000405858.1	-	5	1355	c.814A>T	c.(814-816)Agt>Tgt	p.S272C	ZNF12_ENST00000342651.5_Missense_Mutation_p.S234C|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.S198C	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	272					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCACATTCACTGCATTCATAG	0.398													10	50					0	0	0	0	A	6731759	T	A	6731759	3	1	397	1	0	0	0	0	1	0	0	0	17813	1580	55	5	1283	5	ZNF12	7	6731759	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08		6731759	152406904	170	76258											
DNAH11	8701	broad.mit.edu	37	chr7	21627744	21627744	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggaaattttcagcctacaTtacagcacactagtgcatat	14	12	6	9	0	1	0	1	0	0	0	1	1	1	1	1	1	5	2	1	1	5	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:21627744T>A	ENST00000328843.6	+	10	1804	c.1773T>A	c.(1771-1773)caT>caA	p.H591Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.H591Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	591	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGCCTACATTACAGCACAC	0.368									Kartagener syndrome				7	22					0	0	0	0	A	21627744	T	A	21627744	3	1	397	1	0	0	0	0	1	0	0	0	4636	1490	52	5	1811	5	DNAH11	7	21627744	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	14895985	21627744	137510919	171	76259											
NFE2L3	9603	broad.mit.edu	37	chr7	26225198	26225198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagagagagcaagcacaatGtaacaaagctattaacataa	21	7	7	6	0	0	2	0	0	0	2	0	3	0	2	0	0	5	4	0	0	8	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:26225198G>T	ENST00000056233.3	+	4	2139	c.1880G>T	c.(1879-1881)tGt>tTt	p.C627F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	627	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAAGCACAATGTAACAAAGCT	0.343													29	74					5.61819e-17	7.86895e-17	1	0	T	26225198	G	T	26225198	3	4	397	1	0	0	0	0	1	0	0	0	10439	1377	48	4	1894	4	NFE2L3	7	26225198	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	4597454	26225198	132913465	172	76260											
BMPER	168667	broad.mit.edu	37	chr7	34118705	34118705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcagcacctcaccgtgCgctggaacggctcgcgcatc	7	6	12	16	5	1	0	1	0	0	0	3	1	1	1	2	2	5	6	2	2	1	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:34118705C>A	ENST00000297161.2	+	13	1689	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	BMPER_ENST00000426693.1_Missense_Mutation_p.R439S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	439	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.R439C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCTCACCGTGCGCTGGAACGG	0.662													21	67					5.35356e-11	6.76318e-11	1	0	A	34118705	C	A	34118705	3	1	397	1	0	0	0	0	1	0	0	0	1473	768	27	3	1361	3	BMPER	7	34118705	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	7893507	34118705	125019958	173	76261											
ELMO1	9844	broad.mit.edu	37	chr7	37264526	37264526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgatggtgatctcctgcGccactttctggtagaggtca	6	11	13	11	2	3	2	1	1	2	1	4	3	3	2	3	4	1	1	3	4	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:37264526G>T	ENST00000310758.4	-	9	1306	c.659C>A	c.(658-660)gCg>gAg	p.A220E	ELMO1_ENST00000442504.1_Missense_Mutation_p.A220E|ELMO1_ENST00000448602.1_Missense_Mutation_p.A220E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	220					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCTCCTGCGCCACTTTCTG	0.527													23	53					1.50039e-11	1.93336e-11	1	0	T	37264526	G	T	37264526	3	4	397	1	0	0	0	0	1	0	0	0	5103	1087	38	3	1580	3	ELMO1	7	37264526	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3145821	37264526	121874137	174	76262											
C7orf10	79783	broad.mit.edu	37	chr7	40277269	40277269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaatttctcagcgagctGgttatgatgctgttgcctcg	6	14	11	10	2	1	1	1	1	1	0	4	2	2	1	2	1	4	4	2	1	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:40277269G>T	ENST00000309930.5	+	7	565	c.541G>T	c.(541-543)Ggt>Tgt	p.G181C	C7orf10_ENST00000335693.4_Missense_Mutation_p.G181C|C7orf10_ENST00000401647.2_Missense_Mutation_p.G181C	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	181							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TCAGCGAGCTGGTTATGATGC	0.423													22	54					1.10513e-12	1.45311e-12	1	0	T	40277269	G	T	40277269	3	4	397	1	0	0	0	0	1	0	0	0	2399	1348	47	4	456	4	C7orf10	7	40277269	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3012743	40277269	118861394	175	76263											
ADCY1	107	broad.mit.edu	37	chr7	45614759	45614759	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccaccttggtccccgccaAgcgcccacgtctctggagga	7	6	11	17	3	1	0	0	0	1	0	3	2	2	2	6	3	2	0	6	3	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:45614759A>T	ENST00000297323.7	+	1	639	c.617A>T	c.(616-618)aAg>aTg	p.K206M	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	206					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTCCCCGCCAAGCGCCCACGT	0.662													6	16					0	0	0	0	T	45614759	A	T	45614759	3	4	397	1	0	0	0	0	1	0	0	0	292	72	3	5	619	5	ADCY1	7	45614759	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	5337490	45614759	113523904	176	76264											
AUTS2	26053	broad.mit.edu	37	chr7	70255493	70255493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcagggacttcctgctaagGaacgacccgctccaccggct	8	6	12	15	3	0	0	0	0	0	0	2	3	2	2	4	4	2	4	4	4	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:70255493G>C	ENST00000342771.4	+	19	3612	c.3291G>C	c.(3289-3291)agG>agC	p.R1097S	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1073S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1097										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCCTGCTAAGGAACGACCCGC	0.637													5	5					0	0	0	0	C	70255493	G	C	70255493	3	2	397	1	0	0	0	0	1	0	0	0	1229	1165	41	2	3510	2	AUTS2	7	70255493	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	24640734	70255493	88883170	177	76265											
PCLO	27445	broad.mit.edu	37	chr7	82546068	82546068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccttctcctggaaactGtgcccattgtgctgaatgtg	8	13	10	10	0	1	2	0	1	1	1	3	3	2	3	3	1	3	1	3	1	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:82546068G>T	ENST00000423517.2	-	7	11571	c.11234C>A	c.(11233-11235)aCa>aAa	p.T3745K	PCLO_ENST00000437081.1_Missense_Mutation_p.T465K|PCLO_ENST00000333891.8_Missense_Mutation_p.T3745K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3676					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGGAAACTGTGCCCATTGT	0.478													18	61					3.41278e-10	4.27546e-10	1	0	T	82546068	G	T	82546068	3	4	397	1	0	0	0	0	1	0	0	0	11654	1377	48	4	4287	4	PCLO	7	82546068	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	12290575	82546068	76592595	178	76266											
SEMA3E	9723	broad.mit.edu	37	chr7	83021872	83021872	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaggtagcacgtctcaccTttttgcatgtgtgcctgttg	6	15	10	10	1	2	0	2	0	1	0	3	0	2	0	2	1	3	4	2	1	1	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:83021872T>G	ENST00000307792.3	-	14	2133	c.1667_splice	c.e14+1	p.R556_splice	SEMA3E_ENST00000427262.1_Splice_Site_p.R496_splice	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	556					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACGTCTCACCTTTTTGCATGT	0.438													13	41					0	0	0	0	G	83021872	T	G	83021872	5	3	397	1	0	0	0	0	0	0	1	0	14115	1623	56	5	677	5	SEMA3E	7	83021872	Splice_Site	SNP	T	TCGA-F7-7848-01A-11D-2129-08	475804	83021872	76116791	179	76267											
ABCB4	5244	broad.mit.edu	37	chr7	87056134	87056134	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggtttttctgagtagAatgcctaaataggcgagatt	12	15	10	4	1	1	3	0	1	1	2	1	4	1	3	1	2	1	2	1	2	6	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:87056134A>T	ENST00000265723.4	-	16	2107	c.1996T>A	c.(1996-1998)Tct>Act	p.S666T	ABCB4_ENST00000545634.1_Missense_Mutation_p.S666T|ABCB4_ENST00000453593.1_Missense_Mutation_p.S666T|ABCB4_ENST00000359206.3_Missense_Mutation_p.S666T|ABCB4_ENST00000358400.3_Missense_Mutation_p.S666T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	666					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCTGAGTAGAATGCCTAAAT	0.383													16	48					0	0	0	0	T	87056134	A	T	87056134	3	4	397	1	0	0	0	0	1	0	0	0	43	246	9	5	1916	5	ABCB4	7	87056134	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	4034262	87056134	72082529	180	76268											
SLC25A13	10165	broad.mit.edu	37	chr7	95775870	95775870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaaaaaagttacctTgtagatcccaaaaaacccca	23	6	3	9	0	0	1	0	0	0	1	1	1	1	1	4	0	2	2	4	0	11	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:95775870T>C	ENST00000416240.2	-	14	1643	c.1453A>G	c.(1453-1455)Aag>Gag	p.K485E	SLC25A13_ENST00000265631.5_Missense_Mutation_p.K484E|SLC25A13_ENST00000542654.1_Missense_Mutation_p.K376E	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	484					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAAGTTACCTTGTAGATCCCA	0.388													36	89					0	0	0	0	C	95775870	T	C	95775870	3	2	397	1	0	0	0	0	1	0	0	0	14563	1821	63	5	597	5	SLC25A13	7	95775870	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	8719736	95775870	63362793	181	76269											
STAG3	10734	broad.mit.edu	37	chr7	99787212	99787212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcctgttggagaaacGcaaagaggtgaggagtgttc	12	7	17	5	1	0	4	0	1	0	3	1	7	0	5	1	4	2	3	1	4	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:99787212G>T	ENST00000426455.1	+	8	1267	c.860G>T	c.(859-861)cGc>cTc	p.R287L	STAG3_ENST00000317296.5_Missense_Mutation_p.R287L|STAG3_ENST00000394018.2_Missense_Mutation_p.R229L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	287					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGAGAAACGCAAAGAGGTG	0.547													24	78					3.08376e-08	3.63127e-08	1	0	T	99787212	G	T	99787212	3	4	397	1	0	0	0	0	1	0	0	0	15334	1087	38	3	886	3	STAG3	7	99787212	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	4011342	99787212	59351451	182	76270											
SRRT	51593	broad.mit.edu	37	chr7	100484691	100484691	+	Frame_Shift_Del	DEL	C	C	-																															ttggacaagctcctcctttaCctgcgcatcgtgcattcctt																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:100484691delC	ENST00000388793.4	+	15	2062	c.1842delC	c.(1840-1842)tafs	p.Y614fs	SRRT_ENST00000347433.4_Frame_Shift_Del_p.Y615fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.Y614fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.Y615fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	615					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.Y615Y(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCTCCTTTACCTGCGCATCG	0.602													33	114	---	---	---	---					-	100484691	C	-	100484691	7	5	397	1	0	1	0	1	0	0	0	0	15262	518	18	0	1899	0	SRRT	7	100484691	Frame_Shift_Del	DEL	C	TCGA-F7-7848-01A-11D-2129-08	697479	100484691	58653972	183	76271											
LHFPL3	375612	broad.mit.edu	37	chr7	104377250	104377251	+	Frame_Shift_Ins	INS	-	-	T																															agtccgctgggcatacatccINStggctattattggaattttg																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:104377250_104377251insT	ENST00000535008.1	+	4	698_699	c.574_575insT	c.(574-576)ggcfs	p.G192fs	LHFPL3_ENST00000543266.1_Frame_Shift_Ins_p.G192fs|LHFPL3_ENST00000424859.1_Frame_Shift_Ins_p.G178fs|LHFPL3_ENST00000401970.2_Frame_Shift_Ins_p.G178fs			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	178						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						GGCATACATCCTGGCTATTATT	0.47													11	21	---	---	---	---					T	104377251	-	T	104377250	7	5	397	1	0	1	1	0	0	0	0	0	8820	680	24	0	580	0	LHFPL3	7	104377250	Frame_Shift_Ins	INS	-	TCGA-F7-7848-01A-11D-2129-08	3892559	104377250	54761413	184	76272											
CFTR	1080	broad.mit.edu	37	chr7	117251690	117251690	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaggactatggacactTcgtgccttcggacggcagcc	10	9	11	11	3	0	0	0	0	0	0	2	3	0	3	2	4	2	1	2	4	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:117251690T>A	ENST00000003084.6	+	20	3327	c.3195T>A	c.(3193-3195)ctT>ctA	p.L1065L	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.L1004L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1065	ABC transmembrane type-1 2.		L -> P (in CF).|L -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TATGGACACTTCGTGCCTTCG	0.413									Cystic Fibrosis				11	28					0	0	0	0	A	117251690	T	A	117251690	2	1	397	1	0	0	0	0	0	0	0	1	3323	1770	62	5		5	CFTR	7	117251690	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	12874440	117251690	41886973	185	76273											
KCND2	3751	broad.mit.edu	37	chr7	119915618	119915618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccactctcaaggcctgcGcatcctggggtacacactga	8	7	10	16	2	1	1	1	1	1	0	3	1	2	1	4	3	2	2	4	3	2	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:119915618G>A	ENST00000331113.4	+	1	1897	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	311					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAAGGCCTGCGCATCCTGGGG	0.507													13	46					0	0	0	0	A	119915618	G	A	119915618	3	1	397	1	0	0	0	0	1	0	0	0	8072	1087	38	1	934	1	KCND2	7	119915618	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2663928	119915618	39223045	186	76274											
SLC13A1	6561	broad.mit.edu	37	chr7	122759279	122759279	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatttatttcctatccaCttagataatccagactccta	13	15	3	10	0	0	2	0	0	0	2	4	3	4	2	4	0	0	0	4	0	6	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:122759279C>T	ENST00000194130.2	-	13	1407	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	456						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTCCTATCCACTTAGATAATC	0.308													15	37					0	0	0	0	T	122759279	C	T	122759279	2	4	397	1	0	0	0	0	0	0	0	1	14479	564	20	4		4	SLC13A1	7	122759279	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2843661	122759279	36379384	187	76275											
IQUB	154865	broad.mit.edu	37	chr7	123104904	123104904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttaaggtattttgcaaCttcaggattaaacagaggtg	13	13	9	6	0	1	1	1	0	0	1	1	2	1	2	1	3	4	2	1	3	6	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:123104904C>A	ENST00000466202.1	-	10	2317	c.1741G>T	c.(1741-1743)Gtt>Ttt	p.V581F	IQUB_ENST00000324698.6_Missense_Mutation_p.V581F|IQUB_ENST00000434450.1_Missense_Mutation_p.V581F			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	581										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATTTTGCAACTTCAGGATTA	0.303													30	62					1.39806e-14	1.9049e-14	1	0	A	123104904	C	A	123104904	3	1	397	1	0	0	0	0	1	0	0	0	7873	565	20	4	650	4	IQUB	7	123104904	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	345625	123104904	36033759	188	76276											
DGKI	9162	broad.mit.edu	37	chr7	137308275	137308275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccacaatctctttactgTggaaggagaacttttgctgg	10	13	10	8	0	1	1	0	0	1	1	2	3	1	2	1	3	4	1	1	3	5	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:137308275T>C	ENST00000424189.2	-	7	1059	c.830A>G	c.(829-831)cAc>cGc	p.H277R	DGKI_ENST00000288490.5_Missense_Mutation_p.H277R|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.H277R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	277					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCTTTACTGTGGAAGGAGAA	0.443													41	110					0	0	0	0	C	137308275	T	C	137308275	3	2	397	1	0	0	0	0	1	0	0	0	4508	1696	59	5	2479	5	DGKI	7	137308275	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	14203371	137308275	21830388	189	76277											
AKR1D1	6718	broad.mit.edu	37	chr7	137790055	137790055	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatttactctacaggcGatggaagcttgcaaagacgc	12	9	11	9	2	1	1	0	0	1	1	1	4	1	3	0	3	4	2	0	3	4	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:137790055G>T	ENST00000242375.3	+	5	501	c.459G>T	c.(457-459)gcG>gcT	p.A153A	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Silent_p.A153A|AKR1D1_ENST00000411726.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	153					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTCTACAGGCGATGGAAGCTT	0.453													48	116					2.24722e-20	3.1771e-20	1	0	T	137790055	G	T	137790055	2	4	397	1	0	0	0	0	0	0	0	1	473	1045	37	3		3	AKR1D1	7	137790055	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	481780	137790055	21348608	190	76278											
TAS2R40	259286	broad.mit.edu	37	chr7	142919874	142919874	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaatgccacagggtccAgggaccccagcatgaaggct	12	4	13	12	0	0	1	0	1	0	0	1	3	1	2	4	3	3	3	4	3	3	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:142919874A>T	ENST00000408947.3	+	1	745	c.703A>T	c.(703-705)Agg>Tgg	p.R235W		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	235					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CACAGGGTCCAGGGACCCCAG	0.507													38	112					0	0	0	0	T	142919874	A	T	142919874	3	4	397	1	0	0	0	0	1	0	0	0	15669	179	7	5	705	5	TAS2R40	7	142919874	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	5129819	142919874	16218789	191	76279											
AGAP3	116988	broad.mit.edu	37	chr7	150814821	150814821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctgcgtctctgcagcttCcgcaacgccagcgaggtgcc	5	9	11	16	4	1	0	0	0	1	0	4	1	3	0	4	1	6	3	4	1	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:150814821C>T	ENST00000397238.2	+	5	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F	AGAP3_ENST00000479901.1_Silent_p.F221F|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Silent_p.F221F|AGAP3_ENST00000335367.3_Silent_p.F401F	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	185	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCTGCAGCTTCCGCAACGCCA	0.602													24	70					0	0	0	0	T	150814821	C	T	150814821	2	4	397	1	0	0	0	0	0	0	0	1	369	854	30	2		2	AGAP3	7	150814821	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	7894947	150814821	8323842	192	76280											
SOX7	83595	broad.mit.edu	37	chr8	10583720	10583720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaggtgggggatgcggCggggatggccatgctcctcc	4	7	19	11	2	0	0	0	0	0	0	2	2	2	2	3	8	2	2	3	8	0	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:10583720C>T	ENST00000304501.1	-	2	773	c.695G>A	c.(694-696)cGc>cAc	p.R232H	SOX7_ENST00000554914.1_Missense_Mutation_p.R284H|SOX7_ENST00000553390.1_Missense_Mutation_p.R284H	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	232					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGGATGCGGCGGGGATGGCC	0.682													13	13					0	0	0	0	T	10583720	C	T	10583720	3	4	397	1	0	0	0	0	1	0	0	0	15044	768	27	1	475	1	SOX7	8	10583720	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08		10583720	135780302	193	76281											
MTMR7	9108	broad.mit.edu	37	chr8	17206577	17206577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacgtacagttcagtaggaTaagagtcacagacctgtcac	14	8	10	9	1	3	2	3	0	0	2	3	4	3	3	1	1	2	3	1	1	4	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:17206577T>C	ENST00000180173.5	-	5	516	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	MTMR7_ENST00000521857.1_Missense_Mutation_p.Y161C|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	161	Myotubularin phosphatase.						protein tyrosine phosphatase activity			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)		TTCAGTAGGATAAGAGTCACA	0.473													25	39					0	0	0	0	C	17206577	T	C	17206577	3	2	397	1	0	0	0	0	1	0	0	0	10018	1406	49	5	1540	5	MTMR7	8	17206577	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	6622857	17206577	129157445	194	76282											
NAT1	9	broad.mit.edu	37	chr8	18079810	18079810	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaccactattggttttgAgaccacgatgttgggagggt	8	13	13	7	1	1	2	0	2	1	1	1	5	1	3	2	3	0	2	2	3	1	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:18079810A>T	ENST00000539092.1	+	5	945	c.254A>T	c.(253-255)gAg>gTg	p.E85V	NAT1_ENST00000545197.1_Missense_Mutation_p.E147V|NAT1_ENST00000535084.1_Missense_Mutation_p.E85V|NAT1_ENST00000520546.1_Missense_Mutation_p.E85V|NAT1_ENST00000541942.1_Missense_Mutation_p.E85V|NAT1_ENST00000518029.1_Missense_Mutation_p.E85V|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000307719.4_Missense_Mutation_p.E85V|NAT1_ENST00000517492.1_Missense_Mutation_p.E85V	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	85					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATTGGTTTTGAGACCACGATG	0.473													46	76					0	0	0	0	T	18079810	A	T	18079810	3	4	397	1	0	0	0	0	1	0	0	0	10243	304	11	5	450	5	NAT1	8	18079810	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	873233	18079810	128284212	195	76283											
KIF13B	23303	broad.mit.edu	37	chr8	29006204	29006204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtctacatccagctgctcaGaactattctcgttcttcatg	8	14	6	13	2	5	1	2	0	3	1	7	1	6	1	1	0	4	3	1	0	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:29006204G>A	ENST00000524189.1	-	16	1741	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	KIF13B_ENST00000521515.1_Missense_Mutation_p.S568F	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	568					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCAGAACTATTCTC	0.463													21	43					0	0	0	0	A	29006204	G	A	29006204	3	1	397	1	0	0	0	0	1	0	0	0	8326	942	33	2	3877	2	KIF13B	8	29006204	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	10926394	29006204	117357818	196	76284											
OPRK1	4986	broad.mit.edu	37	chr8	54147356	54147356	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaggactattgcagaGatgccaacagatgacgacag	14	6	10	11	1	0	3	0	1	0	2	1	6	1	4	3	1	3	1	3	1	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:54147356G>T	ENST00000265572.3	-	3	870	c.573C>A	c.(571-573)atC>atA	p.I191I	OPRK1_ENST00000520287.1_Silent_p.I191I|OPRK1_ENST00000524278.1_Silent_p.I102I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	191					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.I191I(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CTATTGCAGAGATGCCAACAG	0.448													24	92					2.21704e-12	2.90664e-12	1	0	T	54147356	G	T	54147356	2	4	397	1	0	0	0	0	0	0	0	1	10956	932	33	2		2	OPRK1	8	54147356	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	25141152	54147356	92216666	197	76285											
CHD7	55636	broad.mit.edu	37	chr8	61765575	61765575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggagtgtggacggcatgaCcgagacttgctggttggtgc	6	10	18	7	2	0	2	0	1	0	1	0	5	0	4	1	5	2	3	1	5	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:61765575C>T	ENST00000423902.2	+	31	6770	c.6291C>T	c.(6289-6291)gaC>gaT	p.D2097D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2097					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GACGGCATGACCGAGACTTGC	0.547													25	41					0	0	0	0	T	61765575	C	T	61765575	2	4	397	1	0	0	0	0	0	0	0	1	3359	506	18	4		4	CHD7	8	61765575	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	7618219	61765575	84598447	198	76286											
SULF1	23213	broad.mit.edu	37	chr8	70512983	70512983	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcagtggatgattctgtgGagagggtaagcacatgaacc	11	10	14	6	0	2	3	1	2	1	1	2	5	2	4	1	3	2	2	1	3	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:70512983G>T	ENST00000260128.4	+	9	1597	c.880G>T	c.(880-882)Gag>Tag	p.E294*	SULF1_ENST00000458141.2_Nonsense_Mutation_p.E294*|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Nonsense_Mutation_p.E294*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.E294*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	294					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGATTCTGTGGAGAGGGTAAG	0.443													21	139					8.10497e-08	9.37267e-08	1	0	T	70512983	G	T	70512983	4	4	397	1	0	0	0	0	0	1	0	0	15460	1175	41	2	898	2	SULF1	8	70512983	Nonsense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	8747408	70512983	75851039	199	76287											
ZFHX4	79776	broad.mit.edu	37	chr8	77764098	77764098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcaacagccctggccaGgggatgttagattccatgag	11	9	12	9	0	1	2	1	1	0	1	2	3	2	3	3	3	2	1	3	3	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:77764098G>A	ENST00000521891.2	+	10	5389	c.4941G>A	c.(4939-4941)caG>caA	p.Q1647Q	ZFHX4_ENST00000518282.1_Silent_p.Q1621Q|ZFHX4_ENST00000050961.6_Silent_p.Q1602Q|ZFHX4_ENST00000455469.2_Silent_p.Q1602Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1602	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCCTGGCCAGGGGATGTTAG	0.473										HNSCC(33;0.089)			15	65					0	0	0	0	A	77764098	G	A	77764098	2	1	397	1	0	0	0	0	0	0	0	1	17730	991	35	4		4	ZFHX4	8	77764098	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	7251115	77764098	68599924	200	76288											
IMPA1	3612	broad.mit.edu	37	chr8	82591364	82591364	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattttaaaacatacctaTgtacaaagttagttgttcca	15	14	5	7	0	0	0	0	0	0	0	1	1	1	0	2	0	3	4	2	0	7	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:82591364T>C	ENST00000256108.5	-	4	764	c.299A>G	c.(298-300)cAt>cGt	p.H100R	IMPA1_ENST00000311489.4_Missense_Mutation_p.H100R|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.H159R	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	100					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	AACATACCTATGTACAAAGTT	0.338													22	32					0	0	0	0	C	82591364	T	C	82591364	3	2	397	1	0	0	0	0	1	0	0	0	7775	1464	51	5	558	5	IMPA1	8	82591364	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	4827266	82591364	63772658	201	76289											
CA3	761	broad.mit.edu	37	chr8	86351946	86351946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttatttcctaggtcctGaccactggcatgaacttttc	8	15	7	11	0	0	2	0	2	0	0	3	3	2	2	3	2	1	1	3	2	3	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:86351946G>T	ENST00000285381.2	+	2	123	c.40G>T	c.(40-42)Gac>Tac	p.D14Y		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	14					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCTAGGTCCTGACCACTGGCA	0.473													4	50					0.014758	0.0150245	1	0	T	86351946	G	T	86351946	3	4	397	1	0	0	0	0	1	0	0	0	2542	1290	45	2	46	2	CA3	8	86351946	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3760582	86351946	60012076	202	76290											
RUNX1T1	862	broad.mit.edu	37	chr8	92998530	92998530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgccttgttttttctacCatgtccattatgcagtttaa	8	18	6	9	1	1	0	0	0	1	0	3	1	2	0	3	0	2	3	3	0	3	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:92998530C>A	ENST00000523629.1	-	9	1555	c.1101G>T	c.(1099-1101)atG>atT	p.M367I	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.M330I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.M330I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.M340I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.M330I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.M340I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.M378I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.M367I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	367	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTTTTTCTACCATGTCCATTA	0.438													49	80					1.42923e-14	1.94151e-14	1	0	A	92998530	C	A	92998530	3	1	397	1	0	0	0	0	1	0	0	0	13832	594	21	4	729	4	RUNX1T1	8	92998530	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	6646584	92998530	53365492	203	76291											
PTDSS1	9791	broad.mit.edu	37	chr8	97321822	97321822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgacacacagtgcaagCgcgtaggaacacaatgctgg	13	5	11	12	3	1	0	1	0	0	0	1	2	1	1	1	2	4	3	1	2	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:97321822C>T	ENST00000517309.1	+	9	1371	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	PTDSS1_ENST00000455950.2_Missense_Mutation_p.R203C|PTDSS1_ENST00000522072.1_Missense_Mutation_p.R146C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	349					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACAGTGCAAGCGCGTAGGAAC	0.423													5	51					0	0	0	0	T	97321822	C	T	97321822	3	4	397	1	0	0	0	0	1	0	0	0	12815	768	27	1	1079	1	PTDSS1	8	97321822	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	4323292	97321822	49042200	204	76292											
UBR5	51366	broad.mit.edu	37	chr8	103326146	103326146	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggttgaccgtcgtcgttcTtagacaacaacaaaatggta	12	10	11	8	3	1	2	0	1	1	1	3	2	1	2	1	3	2	3	1	3	6	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:103326146T>C	ENST00000520539.1	-	16	2501		c.e16-2		UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000220959.4_Splice_Site	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCGTCGTTCTTAGACAACAA	0.363													24	64					0	0	0	0	C	103326146	T	C	103326146	5	2	397	1	0	0	0	0	0	0	1	0	17001	1623	56	5	6682	5	UBR5	8	103326146	Splice_Site	SNP	T	TCGA-F7-7848-01A-11D-2129-08	6004324	103326146	43037876	205	76293											
CSMD3	114788	broad.mit.edu	37	chr8	113256715	113256715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagaagccaggctgacagGtataaatcagtgtataccca	16	7	10	8	0	1	3	1	1	0	2	1	3	1	3	2	2	2	3	2	2	7	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113256715G>A	ENST00000297405.5	-	65	10554	c.10310C>T	c.(10309-10311)aCc>aTc	p.T3437I	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3397I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3268I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3367I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3437	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGCTGACAGGTATAAATCAG	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	63					0	0	0	0	A	113256715	G	A	113256715	3	1	397	1	0	0	0	0	1	0	0	0	3978	1261	44	4	841	4	CSMD3	8	113256715	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	9930569	113256715	33107307	206	76294											
CSMD3	114788	broad.mit.edu	37	chr8	113318355	113318355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaaaataggtaactcgcgttCctaccaaatagtctgttgtt	13	13	7	8	2	1	0	0	0	1	0	3	0	2	0	2	1	2	4	2	1	7	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113318355C>G	ENST00000297405.5	-	51	8196	c.7952G>C	c.(7951-7953)gGa>gCa	p.G2651A	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2611A|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2547A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2581A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2651	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTCGCGTTCCTACCAAATA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	80					0	0	0	0	G	113318355	C	G	113318355	3	3	397	1	0	0	0	0	1	0	0	0	3978	855	30	2	3255	2	CSMD3	8	113318355	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	61640	113318355	33045667	207	76295											
CSMD3	114788	broad.mit.edu	37	chr8	113569034	113569034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatgcccttctctcccCtgtcatgcacttgagaaggc	6	11	8	16	0	2	1	1	1	1	1	5	2	4	1	4	1	2	1	4	1	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113569034C>A	ENST00000297405.5	-	25	4436	c.4192G>T	c.(4192-4194)Ggg>Tgg	p.G1398W	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1358W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1294W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1398W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1398	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCTCTCCCCTGTCATGCAC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	70					8.34094e-07	9.35762e-07	1	0	A	113569034	C	A	113569034	3	1	397	1	0	0	0	0	1	0	0	0	3978	681	24	4	7119	4	CSMD3	8	113569034	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	250679	113569034	32794988	208	76296											
UTP23	84294	broad.mit.edu	37	chr8	117782554	117782554	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtggatcagaatgtctGctttccatggttgaagaggg	9	12	15	5	0	2	4	1	2	1	2	3	5	3	5	1	3	1	2	1	3	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:117782554G>T	ENST00000309822.2	+	2	413	c.312G>T	c.(310-312)ctG>ctT	p.L104L	UTP23_ENST00000520733.1_5'UTR|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Silent_p.L104L	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	104					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CAGAATGTCTGCTTTCCATGG	0.378													55	61					9.59835e-30	1.38302e-29	1	0	T	117782554	G	T	117782554	2	4	397	1	0	0	0	0	0	0	0	1	17196	1306	46	4		4	UTP23	8	117782554	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	4213520	117782554	28581468	209	76297											
ADCY8	114	broad.mit.edu	37	chr8	132051742	132051742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcatactgtaggtggCgaagagcgtgaagagcacgt	11	6	16	8	4	0	3	0	1	0	2	0	4	0	3	0	3	4	4	0	3	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:132051742C>A	ENST00000286355.5	-	1	2930	c.838G>T	c.(838-840)Gcc>Tcc	p.A280S	ADCY8_ENST00000377928.3_Missense_Mutation_p.A280S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	280					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTAGGTGGCGAAGAGCGTG	0.667										HNSCC(32;0.087)			8	40					0.0477658	0.0483012	1	0	A	132051742	C	A	132051742	3	1	397	1	0	0	0	0	1	0	0	0	300	768	27	3	2989	3	ADCY8	8	132051742	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	14269188	132051742	14312280	210	76298											
SLA	6503	broad.mit.edu	37	chr8	134057291	134057291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggggaaatgtagtacCagttgttgggcagacggaaa	11	8	15	7	2	0	1	0	0	0	1	1	3	0	3	2	4	1	5	2	4	4	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:134057291C>A	ENST00000338087.5	-	7	1241	c.422G>T	c.(421-423)tGg>tTg	p.W141L	SLA_ENST00000517648.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.W33L|SLA_ENST00000427060.2_Missense_Mutation_p.W181L|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.W158L|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	141	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AATGTAGTACCAGTTGTTGGG	0.512													12	47					0.010729	0.0109475	1	0	A	134057291	C	A	134057291	3	1	397	1	0	0	0	0	1	0	0	0	14451	595	21	4	420	4	SLA	8	134057291	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2005549	134057291	12306731	211	76299											
C8orf31	286122	broad.mit.edu	37	chr8	144130634	144130634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgtcattgcaggattctctCggcaccacgggaaccacctt	8	11	9	13	2	2	0	1	0	1	0	4	2	2	2	3	3	2	2	3	3	1	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:144130634C>G	ENST00000395172.1	+	5	716	c.364C>G	c.(364-366)Cgg>Ggg	p.R122G	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	122								p.R122R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					aggattctctcggcaccacgg	0.512													25	27					0	0	0	0	G	144130634	C	G	144130634	3	3	397	1	0	0	0	0	1	0	0	0	2444	875	31	3	378	3	C8orf31	8	144130634	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	10073343	144130634	2233388	212	76300											
PTPRD	5789	broad.mit.edu	37	chr9	8636759	8636759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacaattttaggtcttggGtctcccgtagcttggcagat	8	13	11	9	1	2	2	0	0	2	2	3	2	2	2	1	3	1	3	1	3	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:8636759G>T	ENST00000381196.4	-	10	693	c.150C>A	c.(148-150)gaC>gaA	p.D50E	PTPRD_ENST00000355233.5_Missense_Mutation_p.D50E|PTPRD_ENST00000397606.3_Missense_Mutation_p.D50E|PTPRD_ENST00000397611.3_Missense_Mutation_p.D50E|PTPRD_ENST00000397617.3_Missense_Mutation_p.D50E|PTPRD_ENST00000463477.1_Missense_Mutation_p.D50E|PTPRD_ENST00000540109.1_Missense_Mutation_p.D50E|PTPRD_ENST00000360074.4_Missense_Mutation_p.D50E|PTPRD_ENST00000537002.1_Missense_Mutation_p.D50E|PTPRD_ENST00000358503.5_Missense_Mutation_p.D50E|PTPRD_ENST00000486161.1_Missense_Mutation_p.D50E|PTPRD_ENST00000356435.5_Missense_Mutation_p.D50E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	50	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGTCTTGGGTCTCCCGTAG	0.443										TSP Lung(15;0.13)			15	54					1.49906e-05	1.63699e-05	1	0	T	8636759	G	T	8636759	3	4	397	1	0	0	0	0	1	0	0	0	12881	1252	44	4	5792	4	PTPRD	9	8636759	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08		8636759	132576672	213	76301											
TRPM6	140803	broad.mit.edu	37	chr9	77442627	77442627	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtgagctctgatggtcagGgaagaccatgaaagacctca	13	7	13	8	0	3	5	2	3	1	2	3	7	3	6	2	2	1	1	2	2	2	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:77442627G>C	ENST00000359047.2	-	7	1145	c.908C>G	c.(907-909)cCc>cGc	p.P303R	TRPM6_ENST00000483186.1_Intron|TRPM6_ENST00000451710.3_Intron|TRPM6_ENST00000449912.2_Intron|TRPM6_ENST00000376864.4_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	0					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGATGGTCAGGGAAGACCATG	0.557													19	13					0	0	0	0	C	77442627	G	C	77442627	3	2	397	1	0	0	0	0	1	0	0	0	16685	1247	43	4		4	TRPM6	9	77442627	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	68805868	77442627	63770804	214	76302											
CEP78	84131	broad.mit.edu	37	chr9	80880327	80880327	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgggatagatcagtcAgattttcaattactaggtca	12	13	10	6	0	4	2	4	0	0	2	4	3	4	3	0	3	1	1	0	3	4	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:80880327A>C	ENST00000424347.2	+	14	1954	c.1665A>C	c.(1663-1665)tcA>tcC	p.S555S	CEP78_ENST00000415759.2_Silent_p.S556S|CEP78_ENST00000376597.4_Silent_p.S556S|CEP78_ENST00000376598.2_Silent_p.S555S|CEP78_ENST00000277082.5_Silent_p.S555S			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	555					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TAGATCAGTCAGATTTTCAAT	0.438													5	4					0	0	0	0	C	80880327	A	C	80880327	2	2	397	1	0	0	0	0	0	0	0	1	3291	175	7	5		5	CEP78	9	80880327	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	3437700	80880327	60333104	215	76303											
ALDOB	229	broad.mit.edu	37	chr9	104184091	104184091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggcgggcattggaccCtagtaggtatagcaggctgt	8	9	16	8	1	0	0	0	0	0	0	0	1	0	1	1	6	1	6	1	6	4	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:104184091C>T	ENST00000374855.4	-	9	1219	c.1095G>A	c.(1093-1095)taG>taA	p.*365*		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	0					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GCATTGGACCCTAGTAGGTAT	0.527													7	7					0	0	0	0	T	104184091	C	T	104184091	2	4	397	1	0	0	0	0	0	0	0	1	508	692	24	4		4	ALDOB	9	104184091	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	23303764	104184091	37029340	216	76304											
EPB41L4B	54566	broad.mit.edu	37	chr9	111970306	111970306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggagtctgaagagttttCtccgagactttcttttcttc	7	17	9	8	1	4	3	0	1	4	2	6	5	4	4	1	1	0	1	1	1	1	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:111970306C>T	ENST00000374566.3	-	18	2293	c.1776G>A	c.(1774-1776)gaG>gaA	p.E592E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	592						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGAGTTTTCTCCGAGACTT	0.413													21	53					0	0	0	0	T	111970306	C	T	111970306	2	4	397	1	0	0	0	0	0	0	0	1	5194	912	32	2		2	EPB41L4B	9	111970306	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	7786215	111970306	29243125	217	76305											
MUSK	4593	broad.mit.edu	37	chr9	113562629	113562629	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcctgctctttgaataCatggcctatggtgacctcaa	9	13	9	10	0	2	2	1	2	1	0	2	2	2	2	3	2	3	1	3	2	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:113562629C>A	ENST00000416899.2	+	13	2073	c.1947C>A	c.(1945-1947)taC>taA	p.Y649*	MUSK_ENST00000374448.4_Nonsense_Mutation_p.Y657*|MUSK_ENST00000189978.5_Nonsense_Mutation_p.Y657*			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	657	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTTTGAATACATGGCCTATG	0.507													28	44					7.38237e-10	9.17203e-10	1	0	A	113562629	C	A	113562629	4	1	397	1	0	0	0	0	0	1	0	0	10059	489	17	4	2061	4	MUSK	9	113562629	Nonsense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1592323	113562629	27650802	218	76306											
PTGS1	5742	broad.mit.edu	37	chr9	125145892	125145892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatggctgtgggccaggaGgtgtttgggctgcttcctgg	4	11	18	8	0	0	1	0	0	0	1	1	2	1	2	2	6	1	4	2	6	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:125145892G>T	ENST00000362012.2	+	8	872	c.867G>T	c.(865-867)gaG>gaT	p.E289D	PTGS1_ENST00000223423.4_Missense_Mutation_p.E289D|PTGS1_ENST00000540753.1_Missense_Mutation_p.E264D|PTGS1_ENST00000373698.5_Missense_Mutation_p.E180D	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	289					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TGGGCCAGGAGGTGTTTGGGC	0.622													17	16					4.7546e-09	5.7182e-09	1	0	T	125145892	G	T	125145892	3	4	397	1	0	0	0	0	1	0	0	0	12835	991	35	4	897	4	PTGS1	9	125145892	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	11583263	125145892	16067539	219	76307											
GBGT1	26301	broad.mit.edu	37	chr9	136029278	136029278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcagtggaaacacgccTgcgctcataggggaactgct	12	6	13	10	2	1	0	1	0	0	0	1	2	1	2	1	4	4	3	1	4	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:136029278T>A	ENST00000372040.3	-	7	1041	c.730A>T	c.(730-732)Agg>Tgg	p.R244W	GBGT1_ENST00000540636.1_Missense_Mutation_p.R227W|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Silent_p.A237A					globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GAAACACGCCTGCGCTCATAG	0.597													25	40					0	0	0	0	A	136029278	T	A	136029278	3	1	397	1	0	0	0	0	1	0	0	0	6321	1579	55	5	317	5	GBGT1	9	136029278	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	10883386	136029278	5184153	220	76308											
CUBN	8029	broad.mit.edu	37	chr10	16982125	16982125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacgatggaagaataattGagagggaaggagtttccaca	16	7	12	6	1	0	2	0	1	0	2	1	7	1	5	2	3	1	1	2	3	5	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:16982125G>A	ENST00000377833.4	-	37	5519	c.5454C>T	c.(5452-5454)ctC>ctT	p.L1818L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1818	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGAATAATTGAGAGGGAAGG	0.498													104	165					0	0	0	0	A	16982125	G	A	16982125	2	1	397	1	0	0	0	0	0	0	0	1	4083	1277	45	2		2	CUBN	10	16982125	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08		16982125	118552622	221	76309											
FRMPD2	143162	broad.mit.edu	37	chr10	49444559	49444559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagatgtagtgtcatcgggGcctctccagccaacaggatg	9	8	13	11	1	2	1	1	0	1	1	4	2	2	2	3	3	2	2	3	3	2	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:49444559G>T	ENST00000374201.3	-	9	1261	c.959C>A	c.(958-960)gCc>gAc	p.A320D	FRMPD2_ENST00000305531.3_Missense_Mutation_p.A296D|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A289D	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	320					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGTCATCGGGGCCTCTCCAGC	0.567													14	33					1.3612e-06	1.52333e-06	1	0	T	49444559	G	T	49444559	3	4	397	1	0	0	0	0	1	0	0	0	6106	1203	42	4	3054	4	FRMPD2	10	49444559	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	32462434	49444559	86090188	222	76310											
CHAT	1103	broad.mit.edu	37	chr10	50872936	50872936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatctctagctttcaCagctgcaaagagacttcttc	9	14	6	12	0	4	1	1	0	3	1	6	2	4	1	0	0	4	4	0	0	2	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:50872936C>A	ENST00000395562.2	+	16	2314	c.1845C>A	c.(1843-1845)caC>caA	p.H615Q	CHAT_ENST00000455728.2_Intron|CHAT_ENST00000395559.2_Missense_Mutation_p.H579Q|CHAT_ENST00000339797.1_Missense_Mutation_p.H579Q|CHAT_ENST00000337653.2_Missense_Mutation_p.H697Q|CHAT_ENST00000351556.3_Missense_Mutation_p.H579Q	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	697					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTAGCTTTCACAGCTGCAAAG	0.512													40	141					6.2361e-21	8.84429e-21	1	0	A	50872936	C	A	50872936	3	1	397	1	0	0	0	0	1	0	0	0	3342	477	17	4	2193	4	CHAT	10	50872936	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1428377	50872936	84661811	223	76311											
PCDH15	65217	broad.mit.edu	37	chr10	55587200	55587200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgcacctggcggaggCggcggcggcggcgggggcgc	4	2	23	12	8	0	1	0	0	0	1	0	2	0	2	1	9	1	1	1	9	0	0	rs12246234		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:55587200C>T	ENST00000373965.2	-	33	4735	c.4341G>A	c.(4339-4341)ccG>ccA	p.P1447P	PCDH15_ENST00000395433.1_Silent_p.P1415P|PCDH15_ENST00000414778.1_Silent_p.P1442P|PCDH15_ENST00000320301.6_Silent_p.P1440P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Silent_p.P1440P|PCDH15_ENST00000409834.1_Silent_p.P1051P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.P1440P|PCDH15_ENST00000395430.1_Silent_p.P1437P|PCDH15_ENST00000395432.2_Silent_p.P1400P|PCDH15_ENST00000395445.1_Silent_p.P1447P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.P1369P|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTggcggaggcggcggcggcg	0.572										HNSCC(58;0.16)			4	75					0	0	0	0	T	55587200	C	T	55587200	2	4	397	1	0	0	0	0	0	0	0	1	11582	755	27	1		1	PCDH15	10	55587200	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	4714264	55587200	79947547	224	76312											
ZNF365	22891	broad.mit.edu	37	chr10	64415348	64415348	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgtgctgtggtctctcCgagctcatcacggcacctcc	5	10	11	15	3	3	0	2	0	1	0	7	2	5	0	3	2	2	3	3	2	0	0	rs150729144		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:64415348C>G	ENST00000395251.1	+	4	682	c.348C>G	c.(346-348)tcC>tcG	p.S116S	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	116										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GTGGTCTCTCCGAGCTCATCA	0.502													18	50					0	0	0	0	G	64415348	C	G	64415348	2	3	397	1	0	0	0	0	0	0	0	1	17964	639	23	3		3	ZNF365	10	64415348	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	8828148	64415348	71119399	225	76313											
KCNMA1	3778	broad.mit.edu	37	chr10	78651359	78651359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctattggccagtgtctgcGgggtgctgtagccacctcta	5	11	12	13	1	2	0	0	0	2	0	2	0	2	0	4	3	3	2	4	3	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:78651359G>A	ENST00000286627.5	-	25	4044	c.3092C>T	c.(3091-3093)cCg>cTg	p.P1031L	KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1058L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1089L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1092L|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1089L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1031L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1072L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1093L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1089					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAGTGTCTGCGGGGTGCTGTA	0.627													11	41					0	0	0	0	A	78651359	G	A	78651359	3	1	397	1	0	0	0	0	1	0	0	0	8126	1116	39	1	485	1	KCNMA1	10	78651359	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	14236011	78651359	56883388	226	76314											
KCNMA1	3778	broad.mit.edu	37	chr10	78846265	78846265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgactcttgcaagatcaTgtggattgaggacggaaccc	10	10	11	10	1	2	3	1	2	1	1	2	6	2	6	2	3	2	1	2	3	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:78846265T>C	ENST00000286627.5	-	11	2373	c.1421A>G	c.(1420-1422)cAt>cGt	p.H474R	KCNMA1_ENST00000372443.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000286628.8_Missense_Mutation_p.H474R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.H474R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.H474R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000404857.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.H474R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	474	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGCAAGATCATGTGGATTGAG	0.502													8	21					0	0	0	0	C	78846265	T	C	78846265	3	2	397	1	0	0	0	0	1	0	0	0	8126	1464	51	5	2533	5	KCNMA1	10	78846265	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	194906	78846265	56688482	227	76315											
SFTPA2	729238	broad.mit.edu	37	chr10	81317057	81317057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacactgctcttttccccGacctgcaggctcccctcggt	5	10	7	19	2	1	0	0	0	1	0	4	1	3	0	5	2	2	3	5	2	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:81317057G>A	ENST00000372325.2	-	6	739	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R219W	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	219	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTTTTCCCCGACCTGCAGGC	0.557									Pulmonary Fibrosis, Idiopathic				25	199					0	0	0	0	A	81317057	G	A	81317057	3	1	397	1	0	0	0	0	1	0	0	0	14277	1057	37	1	95	1	SFTPA2	10	81317057	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2470792	81317057	54217690	228	76316											
KIF20B	9585	broad.mit.edu	37	chr10	91528644	91528644	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctcaattcttcaatcaaaAggtttgcagaaaattaatta	16	13	4	8	0	4	1	3	0	1	1	4	1	4	1	1	1	1	2	1	1	8	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:91528644A>T	ENST00000416354.1	+	31	5403	c.5332_splice	c.e31+1	p.K1777_splice	KIF20B_ENST00000371728.3_Splice_Site_p.K1747_splice|KIF20B_ENST00000260753.4_Splice_Site_p.K1707_splice|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1747	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTCAATCAAAAGGTTTGCAGA	0.313													11	41					0	0	0	0	T	91528644	A	T	91528644	5	4	397	1	0	0	0	0	0	0	1	0	8338	86	3	5	5239	5	KIF20B	10	91528644	Splice_Site	SNP	A	TCGA-F7-7848-01A-11D-2129-08	10211587	91528644	44006103	229	76317											
HECTD2	143279	broad.mit.edu	37	chr10	93221100	93221100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattctttcccagaattaaAtgctgcatttaaggtaatta	13	16	6	6	0	1	2	0	1	1	1	2	2	2	2	1	1	2	3	1	1	6	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:93221100A>T	ENST00000446394.1	+	4	597	c.497A>T	c.(496-498)aAt>aTt	p.N166I	HECTD2_ENST00000298068.5_Missense_Mutation_p.N166I|HECTD2_ENST00000371681.4_Missense_Mutation_p.N166I			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	166					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCAGAATTAAATGCTGCATTT	0.274													37	93					0	0	0	0	T	93221100	A	T	93221100	3	4	397	1	0	0	0	0	1	0	0	0	7090	101	4	5	511	5	HECTD2	10	93221100	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	1692456	93221100	42313647	230	76318											
EXOC6	54536	broad.mit.edu	37	chr10	94773979	94773979	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctgagcctgtgccaggAttccagggggataccctgca	8	8	13	12	0	1	1	0	1	1	0	2	3	2	3	4	3	5	2	4	3	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:94773979A>G	ENST00000371552.4	+	20	2138	c.2109A>G	c.(2107-2109)ggA>ggG	p.G703G	EXOC6_ENST00000371547.4_Silent_p.G724G|EXOC6_ENST00000260762.6_Silent_p.G708G|EXOC6_ENST00000443748.2_Silent_p.G605G	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	708					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CTGTGCCAGGATTCCAGGGGG	0.378													15	39					0	0	0	0	G	94773979	A	G	94773979	2	3	397	1	0	0	0	0	0	0	0	1	5345	320	12	5		5	EXOC6	10	94773979	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	1552879	94773979	40760768	231	76319											
ALDH18A1	5832	broad.mit.edu	37	chr10	97402775	97402775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaatagatgccaagcgccCcagggccaggccacattcat	13	5	9	14	1	1	1	1	0	0	1	1	1	1	1	5	2	3	0	5	2	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:97402775C>A	ENST00000371224.2	-	3	414	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G93W|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	93	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GCCAAGCGCCCCAGGGCCAGG	0.507													12	36					1.08611e-07	1.24958e-07	1	0	A	97402775	C	A	97402775	3	1	397	1	0	0	0	0	1	0	0	0	489	623	22	4	2174	4	ALDH18A1	10	97402775	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2628796	97402775	38131972	232	76320											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118355782	118355782	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attggccacagcctgggagcCcacgtggctggagaggcagg	8	5	17	11	1	0	1	0	0	0	1	0	3	0	2	3	6	2	2	3	6	0	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:118355782C>G	ENST00000528052.1	+	6	593	c.522C>G	c.(520-522)gcC>gcG	p.A174A	PNLIPRP1_ENST00000534537.1_Silent_p.A174A|PNLIPRP1_ENST00000358834.4_Silent_p.A174A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	174					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GCCTGGGAGCCCACGTGGCTG	0.552													31	149					0	0	0	0	G	118355782	C	G	118355782	2	3	397	1	0	0	0	0	0	0	0	1	12222	610	22	4		4	PNLIPRP1	10	118355782	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	20953007	118355782	17178965	233	76321											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195351	18195351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttcatcccagtcgcgtGgctgatttttttatgtgtgg	6	17	11	7	2	1	2	1	1	0	1	3	2	2	2	1	2	0	1	1	2	1	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:18195351G>C	ENST00000314254.3	+	1	968	c.548G>C	c.(547-549)tGg>tCg	p.W183S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	183						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCAGTCGCGTGGCTGATTTTT	0.512													40	63					0	0	0	0	C	18195351	G	C	18195351	3	2	397	1	0	0	0	0	1	0	0	0	9839	1357	47	4	550	4	MRGPRX4	11	18195351	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08		18195351	116811165	234	76322											
IGSF22	283284	broad.mit.edu	37	chr11	18741425	18741425	+	Frame_Shift_Del	DEL	G	G	-																															accttcttctgcttcttcttGggagcagggggtgccctagg																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:18741425delG	ENST00000513874.1	-	7	673	c.534delC	c.(532-534)ccfs	p.P178fs	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	178	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCTTCTTGGGAGCAGGGG	0.488													44	58	---	---	---	---					-	18741425	G	-	18741425	7	5	397	1	0	1	0	1	0	0	0	0	7653	1335	47	0	3514	0	IGSF22	11	18741425	Frame_Shift_Del	DEL	G	TCGA-F7-7848-01A-11D-2129-08	546074	18741425	116265091	235	76323											
SYT13	57586	broad.mit.edu	37	chr11	45277359	45277359	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatgacctctggagccgtCacagctggcctgggtccata	7	10	12	12	1	2	2	1	2	1	0	3	3	3	3	4	3	2	1	4	3	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:45277359C>G	ENST00000020926.3	-	2	378	c.267G>C	c.(265-267)gtG>gtC	p.V89V		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	89						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGGAGCCGTCACAGCTGGCC	0.547													25	31					0	0	0	0	G	45277359	C	G	45277359	2	3	397	1	0	0	0	0	0	0	0	1	15560	813	29	2		2	SYT13	11	45277359	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	26535934	45277359	89729157	236	76324											
OR8J3	81168	broad.mit.edu	37	chr11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacaaatggccacatagcGgtcataggccatcacagcca	13	7	9	12	1	2	0	2	0	0	0	2	0	2	0	3	3	3	1	3	3	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:55904831G>A	ENST00000301529.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502													28	51					0	0	0	0	A	55904831	G	A	55904831	3	1	397	1	0	0	0	0	1	0	0	0	11313	1116	39	1	585	1	OR8J3	11	55904831	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	10627472	55904831	79101685	237	76325											
MS4A14	84689	broad.mit.edu	37	chr11	60183406	60183406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcacctgaagacttgccatCccaagctctaccagtagaag	13	8	7	13	0	2	3	1	1	1	2	3	3	3	3	4	0	3	2	4	0	5	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:60183406C>T	ENST00000300187.6	+	5	1242	c.965C>T	c.(964-966)tCc>tTc	p.S322F	MS4A14_ENST00000395005.2_Missense_Mutation_p.S305F|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.S355F|MS4A14_ENST00000531787.1_Missense_Mutation_p.S210F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	322						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GACTTGCCATCCCAAGCTCTA	0.453													12	30					0	0	0	0	T	60183406	C	T	60183406	3	4	397	1	0	0	0	0	1	0	0	0	9928	855	30	2	983	2	MS4A14	11	60183406	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	4278575	60183406	74823110	238	76326											
PACS1	55690	broad.mit.edu	37	chr11	66008926	66008926	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcccatatggggacgtgAttggcctccaggtggactac	9	9	13	10	1	0	1	0	1	0	0	1	3	1	3	3	5	2	0	3	5	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:66008926A>G	ENST00000320580.4	+	22	2491	c.2458A>G	c.(2458-2460)Att>Gtt	p.I820V	PACS1_ENST00000524815.1_5'UTR|PACS1_ENST00000529757.1_Missense_Mutation_p.I356V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	820					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGGGGACGTGATTGGCCTCCA	0.592													6	45					0	0	0	0	G	66008926	A	G	66008926	3	3	397	1	0	0	0	0	1	0	0	0	11443	333	12	5	2544	5	PACS1	11	66008926	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	5825520	66008926	68997590	239	76327											
CPT1A	1374	broad.mit.edu	37	chr11	68548156	68548156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcccaggagtgttcagcGttgaggcccatcttcccgtt	5	12	11	13	2	3	1	1	1	2	0	4	2	4	2	3	2	2	3	3	2	0	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:68548156G>T	ENST00000265641.5	-	12	1564	c.1410C>A	c.(1408-1410)aaC>aaA	p.N470K	CPT1A_ENST00000540367.1_Missense_Mutation_p.N470K|CPT1A_ENST00000539743.1_Missense_Mutation_p.N470K|CPT1A_ENST00000376618.2_Missense_Mutation_p.N470K	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	470					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTGTTCAGCGTTGAGGCCCA	0.463													101	52					1.14904e-54	1.67166e-54	1	0	T	68548156	G	T	68548156	3	4	397	1	0	0	0	0	1	0	0	0	3861	1136	40	3	983	3	CPT1A	11	68548156	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2539230	68548156	66458360	240	76328											
MRPL21	219927	broad.mit.edu	37	chr11	68665462	68665462	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccaaggtggtgaactcagGgatgttttaggaacatatct	11	11	13	6	0	2	1	1	1	1	0	2	3	2	3	1	5	2	1	1	5	5	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:68665462G>T	ENST00000362034.2	-	3	174	c.165C>A	c.(163-165)tcC>tcA	p.S55S	MRPL21_ENST00000567045.1_5'UTR|MRPL21_ENST00000450904.2_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	55					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGAACTCAGGGATGTTTTAG	0.473													37	123					8.73648e-17	1.21986e-16	1	0	T	68665462	G	T	68665462	2	4	397	1	0	0	0	0	0	0	0	1	9857	1219	43	4		4	MRPL21	11	68665462	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	117306	68665462	66341054	241	76329											
AMOTL1	154810	broad.mit.edu	37	chr11	94533290	94533290	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcggggtcctccacctGagtaccccttcaagaccaag	9	7	8	17	1	1	2	1	1	0	1	4	2	3	2	7	2	1	1	7	2	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:94533290G>T	ENST00000433060.2	+	3	1075	c.934G>T	c.(934-936)Gag>Tag	p.E312*	AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.E262*|AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.E312*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	312						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCCTCCACCTGAGTACCCCTT	0.602													48	54					1.41504e-22	2.01956e-22	1	0	T	94533290	G	T	94533290	4	4	397	1	0	0	0	0	0	1	0	0	583	1291	45	2	944	2	AMOTL1	11	94533290	Nonsense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	25867828	94533290	40473226	242	76330											
MAML2	84441	broad.mit.edu	37	chr11	95713064	95713065	+	Frame_Shift_Del	DEL	GT	GT	-																															tggaattgggagttaaaatgGtgtgtgttgaaactgggttt																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:95713064_95713065delGT	ENST00000524717.1	-	5	3802_3803	c.2518_2519delAC	c.(2518-2520)cfs	p.T840fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	840					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGTTAAAATGGTGTGTGTTGAA	0.421			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								17	19	---	---	---	---					-	95713065	GT	-	95713064	7	5	397	1	0	1	0	1	0	0	0	0	9275	1261	44	0	955	0	MAML2	11	95713064	Frame_Shift_Del	DEL	GT	TCGA-F7-7848-01A-11D-2129-08	1179774	95713064	39293452	243	76331											
MMP8	4317	broad.mit.edu	37	chr11	102593338	102593338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcttttcaacgatcacatTagtgccattcttccttgtag	10	15	6	10	1	3	0	2	0	1	0	4	1	4	0	2	0	3	2	2	0	4	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:102593338T>C	ENST00000236826.3	-	2	267	c.169A>G	c.(169-171)Aat>Gat	p.N57D		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	57					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACGATCACATTAGTGCCATTC	0.433													24	63					0	0	0	0	C	102593338	T	C	102593338	3	2	397	1	0	0	0	0	1	0	0	0	9738	1754	61	5	1270	5	MMP8	11	102593338	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	6880274	102593338	32413178	244	76332											
CDON	50937	broad.mit.edu	37	chr11	125871614	125871614	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatattcttctttttacCtccactgtgcctagaggaat	11	16	5	9	0	2	1	0	0	2	1	3	2	3	2	3	1	2	0	3	1	6	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:125871614C>T	ENST00000392693.3	-	11	2285	c.2158_splice	c.e11+1	p.V720_splice	CDON_ENST00000263577.7_Splice_Site_p.V720_splice|CDON_ENST00000531738.1_Splice_Site_p.V97_splice	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	720					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCTTTTTACCTCCACTGTGC	0.408													18	32					0	0	0	0	T	125871614	C	T	125871614	5	4	397	1	0	0	0	0	0	0	1	0	3199	695	24	4	1676	4	CDON	11	125871614	Splice_Site	SNP	C	TCGA-F7-7848-01A-11D-2129-08	23278276	125871614	9134902	245	76333											
ATN1	1822	broad.mit.edu	37	chr12	7047905	7047905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggccctgtacagcagtGatccagctgcccgggagagg	7	6	14	14	2	0	2	0	1	0	1	2	3	2	2	4	3	4	3	4	3	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:7047905G>T	ENST00000356654.4	+	7	3016	c.2779G>T	c.(2779-2781)Gat>Tat	p.D927Y	ATN1_ENST00000396684.2_Missense_Mutation_p.D927Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	927					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTACAGCAGTGATCCAGCTGC	0.622													18	104					3.52763e-06	3.89942e-06	1	0	T	7047905	G	T	7047905	3	4	397	1	0	0	0	0	1	0	0	0	1115	1290	45	2	2801	2	ATN1	12	7047905	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08		7047905	126803990	246	76334											
CLEC4D	338339	broad.mit.edu	37	chr12	8667867	8667867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccccagctgataccttcgGttattgctgtagttttcatc	7	16	7	11	1	1	1	1	1	0	0	4	1	2	1	3	1	3	5	3	1	3	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:8667867G>T	ENST00000299665.2	+	2	257	c.64G>T	c.(64-66)Gtt>Ttt	p.V22F		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	22					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GATACCTTCGGTTATTGCTGT	0.378													26	92					2.48779e-11	3.17846e-11	1	0	T	8667867	G	T	8667867	3	4	397	1	0	0	0	0	1	0	0	0	3544	1261	44	4	70	4	CLEC4D	12	8667867	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1619962	8667867	125184028	247	76335											
GRIN2B	2904	broad.mit.edu	37	chr12	13768124	13768124	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctctatgaagggcacAgagaagtcgaccacctccga	11	7	10	13	2	1	2	0	1	1	1	4	5	2	2	4	1	0	1	4	1	3	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:13768124A>G	ENST00000279593.3	-	7	1787	c.1578T>C	c.(1576-1578)tcT>tcC	p.S526S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	526					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAAGGGCACAGAGAAGTCGA	0.527													30	96					0	0	0	0	G	13768124	A	G	13768124	2	3	397	1	0	0	0	0	0	0	0	1	6830	175	7	5		5	GRIN2B	12	13768124	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	5100257	13768124	120083771	248	76336											
GRIN2B	2904	broad.mit.edu	37	chr12	14018745	14018745	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaccttatctgccattAtcatagaggagcccccgtgg	8	14	8	11	1	2	1	1	0	1	1	2	2	2	2	4	2	3	0	4	2	4	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:14018745A>G	ENST00000279593.3	-	2	607	c.398T>C	c.(397-399)aTa>aCa	p.I133T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	133					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCTGCCATTATCATAGAGGA	0.502													30	182					0	0	0	0	G	14018745	A	G	14018745	3	3	397	1	0	0	0	0	1	0	0	0	6830	449	16	5	4104	5	GRIN2B	12	14018745	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	250621	14018745	119833150	249	76337											
PDE3A	5139	broad.mit.edu	37	chr12	20801724	20801724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacttcttaattaaccttGaccatgtggaatttaagcat	14	15	5	7	0	1	1	0	1	1	0	1	2	1	2	2	1	3	1	2	1	5	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:20801724G>T	ENST00000359062.3	+	13	2708	c.2668G>T	c.(2668-2670)Gac>Tac	p.D890Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	890	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AATTAACCTTGACCATGTGGA	0.408													28	120					2.79863e-10	3.51583e-10	1	0	T	20801724	G	T	20801724	3	4	397	1	0	0	0	0	1	0	0	0	11708	1290	45	2	2718	2	PDE3A	12	20801724	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	6782979	20801724	113050171	250	76338											
SLCO1B1	10599	broad.mit.edu	37	chr12	21327510	21327510	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataattttgttccctttctaGgaaatttgcttgtgattgta	9	20	7	5	0	1	1	0	1	1	0	2	2	2	2	1	1	1	3	1	1	4	10			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:21327510G>C	ENST00000256958.2	+	4	322		c.e4-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCCCTTTCTAGGAAATTTGCT	0.363													20	33					0	0	0	0	C	21327510	G	C	21327510	5	2	397	1	0	0	0	0	0	0	1	0	14811	1014	35	4	236	4	SLCO1B1	12	21327510	Splice_Site	SNP	G	TCGA-F7-7848-01A-11D-2129-08	525786	21327510	112524385	251	76339											
KCNH3	23416	broad.mit.edu	37	chr12	49936579	49936579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgctctaccacctgtccgGgcacctgcagaagcagccca	8	6	10	17	2	1	1	0	0	1	1	2	1	2	1	5	1	5	4	5	1	2	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:49936579G>C	ENST00000257981.6	+	4	796	c.536G>C	c.(535-537)gGg>gCg	p.G179A	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	179					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CACCTGTCCGGGCACCTGCAG	0.652													3	2					0	0	0	0	C	49936579	G	C	49936579	3	2	397	1	0	0	0	0	1	0	0	0	8086	1232	43	4	550	4	KCNH3	12	49936579	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	28609069	49936579	83915316	252	76340											
KRT6B	3854	broad.mit.edu	37	chr12	52842695	52842695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctcagcaatctcctgCttggtgttgcgcaggtcgtc	5	14	11	11	2	2	1	1	1	2	0	6	1	2	1	1	2	3	4	1	2	1	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:52842695C>T	ENST00000252252.3	-	6	1181	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	378	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAATCTCCTGCTTGGTGTTGC	0.552													25	31					0	0	0	0	T	52842695	C	T	52842695	2	4	397	1	0	0	0	0	0	0	0	1	8533	796	28	4		4	KRT6B	12	52842695	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2906116	52842695	81009200	253	76341											
OR6C65	403282	broad.mit.edu	37	chr12	55794728	55794728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcatgagtaacaaagtctGtaattggcttgtaatcagct	13	13	8	7	0	3	1	2	1	1	0	3	1	3	1	0	1	2	5	0	1	4	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:55794728G>A	ENST00000379665.2	+	1	515	c.416G>A	c.(415-417)tGt>tAt	p.C139Y		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AACAAAGTCTGTAATTGGCTT	0.418													64	102					0	0	0	0	A	55794728	G	A	55794728	3	1	397	1	0	0	0	0	1	0	0	0	11266	1377	48	4	418	4	OR6C65	12	55794728	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2952033	55794728	78057167	254	76342											
NAV3	89795	broad.mit.edu	37	chr12	78522567	78522567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactggagggcttcaggaCactggcaaccagtcacctct	9	9	10	13	0	4	0	2	0	2	0	4	2	4	2	2	4	2	2	2	4	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:78522567C>T	ENST00000397909.2	+	18	4535	c.4362C>T	c.(4360-4362)gaC>gaT	p.D1454D	NAV3_ENST00000266692.7_Silent_p.D1277D|NAV3_ENST00000228327.6_Silent_p.D1454D|NAV3_ENST00000536525.2_Silent_p.D1454D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1454	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCTTCAGGACACTGGCAACC	0.463										HNSCC(70;0.22)			23	40					0	0	0	0	T	78522567	C	T	78522567	2	4	397	1	0	0	0	0	0	0	0	1	10255	477	17	4		4	NAV3	12	78522567	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	22727839	78522567	55329328	255	76343											
LIN7A	8825	broad.mit.edu	37	chr12	81283142	81283142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtaattcaattgctcttGcaacatctgaatgaaaaaaa	17	11	5	8	0	3	2	1	2	2	0	3	2	3	2	1	0	3	3	1	0	7	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:81283142G>C	ENST00000552864.1	-	2	291	c.89C>G	c.(88-90)gCa>gGa	p.A30G		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	30	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AATTGCTCTTGCAACATCTGA	0.343													14	17					0	0	0	0	C	81283142	G	C	81283142	3	2	397	1	0	0	0	0	1	0	0	0	8865	1319	46	4	628	4	LIN7A	12	81283142	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2760575	81283142	52568753	256	76344											
PAH	5053	broad.mit.edu	37	chr12	103245509	103245509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaaaacaagggcacatGtcccaacagctcatggcaga	15	6	9	11	0	2	2	1	1	1	1	3	2	3	2	1	2	3	3	1	2	4	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:103245509G>A	ENST00000553106.1	-	8	1340	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	PAH_ENST00000307000.2_Missense_Mutation_p.H285Y	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	290					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAGGGCACATGTCCCAACAGC	0.468													8	19					0	0	0	0	A	103245509	G	A	103245509	3	1	397	1	0	0	0	0	1	0	0	0	11465	1377	48	4	514	4	PAH	12	103245509	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	21962367	103245509	30606386	257	76345											
KDM2B	84678	broad.mit.edu	37	chr12	121879997	121879997	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacccgcatgcacacacAcaggtcttggtggctgaggt	9	7	13	12	1	1	2	0	1	1	1	1	2	1	2	1	4	1	4	1	4	0	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:121879997A>T	ENST00000377069.4	-	18	3446	c.3040T>A	c.(3040-3042)Tgt>Agt	p.C1014S	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.C451S|KDM2B_ENST00000377071.4_Missense_Mutation_p.C1083S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1083	Pro-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGCACACACACAGGTCTTGG	0.662													5	33					0	0	0	0	T	121879997	A	T	121879997	3	4	397	1	0	0	0	0	1	0	0	0	8178	159	6	5	835	5	KDM2B	12	121879997	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	18634488	121879997	11971898	258	76346											
NBEA	26960	broad.mit.edu	37	chr13	35632986	35632986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcaattcatcagttaGgacctggatataaggtagta	13	14	9	5	0	2	0	2	0	0	0	2	2	2	2	1	3	1	4	1	3	7	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:35632986G>C	ENST00000400445.3	+	8	1759	c.1225G>C	c.(1225-1227)Gga>Cga	p.G409R	NBEA_ENST00000310336.4_Missense_Mutation_p.G409R|NBEA_ENST00000379939.2_Missense_Mutation_p.G409R|NBEA_ENST00000540320.1_Missense_Mutation_p.G409R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	409						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCATCAGTTAGGACCTGGATA	0.343													3	7					0	0	0	0	C	35632986	G	C	35632986	3	2	397	1	0	0	0	0	1	0	0	0	10257	1001	35	4	1255	4	NBEA	13	35632986	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08		35632986	79536892	259	76347											
CKAP2	26586	broad.mit.edu	37	chr13	53035751	53035751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcatcacagtaataccCgggacactgtgaaacaaggc	15	6	10	10	1	2	1	2	1	0	0	2	3	2	2	1	2	2	1	1	2	5	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:53035751C>T	ENST00000378037.5	+	4	883	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	CKAP2_ENST00000490903.1_Missense_Mutation_p.R216W|CKAP2_ENST00000378034.3_Missense_Mutation_p.R264W|CKAP2_ENST00000258607.5_Missense_Mutation_p.R264W	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	265					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAGTAATACCCGGGACACTGT	0.408													25	34					0	0	0	0	T	53035751	C	T	53035751	3	4	397	1	0	0	0	0	1	0	0	0	3472	643	23	1	807	1	CKAP2	13	53035751	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	17402765	53035751	62134127	260	76348											
PCDH20	64881	broad.mit.edu	37	chr13	61986650	61986650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattggagcattatcattgtCatctaaaagttgcactttaa	14	15	6	6	0	3	0	2	0	1	0	3	1	3	1	0	1	2	3	0	1	5	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:61986650C>T	ENST00000409186.1	-	5	3687	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D528N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	501	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTATCATTGTCATCTAAAAGT	0.398													46	94					0	0	0	0	T	61986650	C	T	61986650	3	4	397	1	0	0	0	0	1	0	0	0	11586	826	29	2	1277	2	PCDH20	13	61986650	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	8950899	61986650	53183228	261	76349											
SLITRK5	26050	broad.mit.edu	37	chr13	88328295	88328295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaaacttctgccctacGtggggctcttgcagcacatg	7	10	12	12	1	2	1	0	1	2	0	2	1	2	1	1	3	5	4	1	3	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:88328295G>T	ENST00000325089.6	+	2	871	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	218						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTGCCCTACGTGGGGCTCTT	0.483													23	35					1.50039e-11	1.93336e-11	1	0	T	88328295	G	T	88328295	3	4	397	1	0	0	0	0	1	0	0	0	14834	1145	40	3	654	3	SLITRK5	13	88328295	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	26341645	88328295	26841583	262	76350											
DZIP1	22873	broad.mit.edu	37	chr13	96237044	96237044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcatttagcacatgagCaaaatgtggttcatttttcg	11	13	9	8	1	1	1	1	1	0	0	2	1	1	1	1	2	2	4	1	2	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:96237044C>T	ENST00000347108.3	-	20	2902	c.2470G>A	c.(2470-2472)Gct>Act	p.A824T	DZIP1_ENST00000376829.2_Missense_Mutation_p.A824T|DZIP1_ENST00000361396.2_Missense_Mutation_p.A805T|DZIP1_ENST00000361156.3_Missense_Mutation_p.A805T			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	824					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			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)			AGCACATGAGCAAAATGTGGT	0.438													18	34					0	0	0	0	T	96237044	C	T	96237044	3	4	397	1	0	0	0	0	1	0	0	0	4899	710	25	4	141	4	DZIP1	13	96237044	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	7908749	96237044	18932834	263	76351											
FARP1	10160	broad.mit.edu	37	chr13	99087858	99087858	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagatcacggagatggtGgcacagctccacggtacgat	11	6	14	10	3	1	2	1	0	0	2	2	5	2	2	1	4	2	4	1	4	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:99087858G>C	ENST00000376586.2	+	19	2508	c.2172G>C	c.(2170-2172)gtG>gtC	p.V724V	FARP1_ENST00000595437.1_Silent_p.V724V|FARP1_ENST00000319562.6_Silent_p.V724V|FARP1-AS1_ENST00000432229.1_RNA			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	724	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGGAGATGGTGGCACAGCTCC	0.517													16	29					0	0	0	0	C	99087858	G	C	99087858	2	2	397	1	0	0	0	0	0	0	0	1	5721	1335	47	4		4	FARP1	13	99087858	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2850814	99087858	16082020	264	76352											
OR4Q3	441669	broad.mit.edu	37	chr14	20215674	20215674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctatttctcttcttaCtatttttgtttttttacatt	6	25	3	7	0	2	0	0	0	2	0	3	0	2	0	0	0	4	3	0	0	4	12	rs4494468		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:20215674C>A	ENST00000331723.1	+	1	88	c.88C>A	c.(88-90)Cta>Ata	p.L30I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTTCTTACTATTTTTGTT	0.378													33	115					1.1423e-28	1.63549e-28	1	0	A	20215674	C	A	20215674	3	1	397	1	0	0	0	0	1	0	0	0	11152	564	20	4	90	4	OR4Q3	14	20215674	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08		20215674	87133866	265	76353											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20781866	20781866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcaattctacatccttgCtttgtatttgctgagtatat	9	18	7	7	0	2	1	1	1	1	0	3	1	3	1	1	1	3	4	1	1	5	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:20781866C>G	ENST00000398169.3	-	6	1008	c.392G>C	c.(391-393)aGc>aCc	p.S131T	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.S131T			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	131						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TACATCCTTGCTTTGTATTTG	0.393			T	HMGA2	leiomyoma								8	82					0	0	0	0	G	20781866	C	G	20781866	3	3	397	1	0	0	0	0	1	0	0	0	2941	797	28	4	449	4	CCNB1IP1	14	20781866	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	566192	20781866	86567674	266	76354											
SALL2	6297	broad.mit.edu	37	chr14	21991721	21991721	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggggatctggccccccAggtgcatccggacatgctgc	5	8	14	14	2	1	0	0	0	1	0	2	2	2	2	4	5	3	3	4	5	0	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:21991721A>C	ENST00000327430.3	-	2	2435	c.2141T>G	c.(2140-2142)cTg>cGg	p.L714R	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.L577R|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	714							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGCCCCCCAGGTGCATCCG	0.607													8	32					0	0	0	0	C	21991721	A	C	21991721	3	2	397	1	0	0	0	0	1	0	0	0	13896	188	7	5	886	5	SALL2	14	21991721	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	1209855	21991721	85357819	267	76355											
IPO4	79711	broad.mit.edu	37	chr14	24652822	24652822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagagatctcccccacGgcagcacaggtgtcttcctt	8	10	8	15	1	3	1	1	0	2	1	5	2	4	1	3	2	1	2	3	2	0	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:24652822G>A	ENST00000354464.6	-	20	2213	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	679					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCTCCCCCACGGCAGCACAGG	0.577													5	25					0	0	0	0	A	24652822	G	A	24652822	2	1	397	1	0	0	0	0	0	0	0	1	7848	1103	39	1		1	IPO4	14	24652822	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2661101	24652822	82696718	268	76356											
EGLN3	112399	broad.mit.edu	37	chr14	34419578	34419578	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgcgggagcagctgcGgcagggcgccgagcgcgtcc	4	3	18	16	7	0	0	0	0	0	0	2	2	2	1	4	3	4	3	4	3	0	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:34419578G>T	ENST00000547327.2	-	1	709	c.381C>A	c.(379-381)gcC>gcA	p.A127A	EGLN3_ENST00000250457.3_Intron|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	127	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GAGCAGCTGCGGCAGGGCGCC	0.607													21	30					1.10923e-09	1.37058e-09	1	0	T	34419578	G	T	34419578	2	4	397	1	0	0	0	0	0	0	0	1	5006	1131	39	3		3	EGLN3	14	34419578	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	9766756	34419578	72929962	269	76357											
RALGAPA1	253959	broad.mit.edu	37	chr14	36128345	36128345	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagaatatccgacctaccGtgcaggaccagagggctcat	12	7	10	12	2	1	2	1	0	0	2	2	4	2	3	4	2	2	2	4	2	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:36128345G>A	ENST00000258840.6	-	28	4399	c.4010_splice	c.e28+1	p.R1337_splice	RALGAPA1_ENST00000382366.3_Splice_Site_p.R1303_splice|RALGAPA1_ENST00000307138.6_Splice_Site_p.R1290_splice|RALGAPA1_ENST00000389698.3_Splice_Site_p.R1290_splice			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1290	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGACCTACCGTGCAGGACCA	0.373													15	31					0	0	0	0	A	36128345	G	A	36128345	5	1	397	1	0	0	0	0	0	0	1	0	13095	1159	40	1	2451	1	RALGAPA1	14	36128345	Splice_Site	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1708767	36128345	71221195	270	76358											
SSTR1	6751	broad.mit.edu	37	chr14	38678848	38678848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatctacgtgatcctgcGctatgccaagatgaagacgg	10	9	12	10	3	2	4	1	2	1	2	3	4	3	4	2	2	3	1	2	2	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:38678848G>T	ENST00000267377.2	+	3	871	c.254G>T	c.(253-255)cGc>cTc	p.R85L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	85					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTGATCCTGCGCTATGCCAAG	0.562													27	58					4.22769e-11	5.37096e-11	1	0	T	38678848	G	T	38678848	3	4	397	1	0	0	0	0	1	0	0	0	15287	1087	38	3	256	3	SSTR1	14	38678848	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2550503	38678848	68670692	271	76359											
RPL10L	140801	broad.mit.edu	37	chr14	47120455	47120455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatatgaatcttctggCgtccagggaacttgaacttg	10	12	12	7	1	2	3	0	2	2	1	3	5	3	4	1	3	2	0	1	3	4	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:47120455C>A	ENST00000298283.3	-	1	573	c.485G>T	c.(484-486)cGc>cTc	p.R162L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	162					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AATCTTCTGGCGTCCAGGGAA	0.498													38	78					5.43694e-19	7.66268e-19	1	0	A	47120455	C	A	47120455	3	1	397	1	0	0	0	0	1	0	0	0	13641	768	27	3	163	3	RPL10L	14	47120455	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	8441607	47120455	60229085	272	76360											
ARF6	382	broad.mit.edu	37	chr14	50360768	50360768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgccaggagctgcaccGcattatcaatgaccgggaga	10	6	13	12	3	1	2	1	1	0	1	2	4	1	3	3	3	2	4	3	3	2	1	rs61755568		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:50360768G>C	ENST00000298316.5	+	2	861	c.314G>C	c.(313-315)cGc>cCc	p.R105P		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	105					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					GAGCTGCACCGCATTATCAAT	0.587													17	42					0	0	0	0	C	50360768	G	C	50360768	3	2	397	1	0	0	0	0	1	0	0	0	850	1087	38	3	316	3	ARF6	14	50360768	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3240313	50360768	56988772	273	76361											
NRXN3	9369	broad.mit.edu	37	chr14	80164140	80164140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaatggaagtgttcggCtggttggagaagtcccatca	12	10	12	7	1	2	1	2	0	0	1	4	3	3	2	1	4	0	3	1	4	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:80164140C>A	ENST00000281127.7	+	4	1648	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.L287M|NRXN3_ENST00000335750.5_Missense_Mutation_p.L889M|NRXN3_ENST00000554719.1_Missense_Mutation_p.L889M|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.L257M	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	257					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGTGTTCGGCTGGTTGGAGA	0.458													26	59					6.32553e-13	8.34156e-13	1	0	A	80164140	C	A	80164140	3	1	397	1	0	0	0	0	1	0	0	0	10738	796	28	4	3060	4	NRXN3	14	80164140	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	29803372	80164140	27185400	274	76362											
DICER1	23405	broad.mit.edu	37	chr14	95574699	95574699	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcagtattccaaagcatcTtgtggtatcttcaggaggat	10	13	10	8	1	4	0	2	0	2	0	5	2	5	2	1	3	1	3	1	3	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:95574699T>G	ENST00000526495.1	-	17	2689	c.2398A>C	c.(2398-2400)Aga>Cga	p.R800R	DICER1_ENST00000393063.1_Silent_p.R800R|DICER1_ENST00000343455.3_Silent_p.R800R|DICER1_ENST00000527414.1_Silent_p.R800R|DICER1_ENST00000541352.1_Silent_p.R800R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	800					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCAAAGCATCTTGTGGTATCT	0.398			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				48	119					0	0	0	0	G	95574699	T	G	95574699	2	3	397	1	0	0	0	0	0	0	0	1	4558	1617	56	5		5	DICER1	14	95574699	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	15410559	95574699	11774841	275	76363											
DLK1	8788	broad.mit.edu	37	chr14	101194741	101194741	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacctcaggggctgaaTgcttcccggcctgcaacccc	6	9	10	16	1	1	1	1	1	0	0	2	1	2	1	5	3	4	4	5	3	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:101194741T>G	ENST00000341267.4	+	2	318	c.76T>G	c.(76-78)Tgc>Ggc	p.C26G	DLK1_ENST00000556051.1_Missense_Mutation_p.C26G|DLK1_ENST00000331224.6_Missense_Mutation_p.C26G	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	26	EGF-like 1.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGGGCTGAATGCTTCCCGGC	0.572													5	34					0	0	0	0	G	101194741	T	G	101194741	3	3	397	1	0	0	0	0	1	0	0	0	4601	1464	51	5	82	5	DLK1	14	101194741	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	5620042	101194741	6154799	276	76364											
ATP10A	57194	broad.mit.edu	37	chr15	25940061	25940061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagaggacggagcggCactgcttggcaaggaagagg	12	3	18	8	2	0	2	0	0	0	2	0	6	0	5	0	6	3	4	0	6	2	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:25940061C>A	ENST00000356865.6	-	14	3104	c.2993G>T	c.(2992-2994)tGc>tTc	p.C998F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	998					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACGGAGCGGCACTGCTTGGC	0.607													29	29					3.73148e-12	4.87796e-12	1	0	A	25940061	C	A	25940061	3	1	397	1	0	0	0	0	1	0	0	0	1120	710	25	4	1538	4	ATP10A	15	25940061	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08		25940061	76591331	277	76365											
TJP1	7082	broad.mit.edu	37	chr15	30012801	30012801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtctgtgtcttcatagtCagaagtgtgtctactgtccg	6	16	11	8	1	5	1	2	0	3	1	6	1	6	1	1	0	1	0	1	0	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:30012801C>T	ENST00000346128.6	-	19	2998	c.2524G>A	c.(2524-2526)Gac>Aac	p.D842N	TJP1_ENST00000545208.2_Missense_Mutation_p.D842N|TJP1_ENST00000356107.6_Missense_Mutation_p.D842N|TJP1_ENST00000400011.2_Missense_Mutation_p.D846N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	842					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.D842fs*18(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTTCATAGTCAGAAGTGTGT	0.463													40	40					0	0	0	0	T	30012801	C	T	30012801	3	4	397	1	0	0	0	0	1	0	0	0	16023	826	29	2	2762	2	TJP1	15	30012801	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	4072740	30012801	72518591	278	76366											
OTUD7A	161725	broad.mit.edu	37	chr15	31819495	31819495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaacaccaggtcccggtcGtgaaacccccacattcctgg	9	7	9	16	3	0	1	0	1	0	0	3	1	2	1	5	3	2	1	5	3	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:31819495G>C	ENST00000382902.1	-	5	761	c.669C>G	c.(667-669)caC>caG	p.H223Q	OTUD7A_ENST00000307050.4_Missense_Mutation_p.H223Q			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	223	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGTCCCGGTCGTGAAACCCCC	0.577													17	93					0	0	0	0	C	31819495	G	C	31819495	3	2	397	1	0	0	0	0	1	0	0	0	11389	1136	40	3	2139	3	OTUD7A	15	31819495	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1806694	31819495	70711897	279	76367											
RYR3	6263	broad.mit.edu	37	chr15	33855069	33855069	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaattagactccagtcacaAgcgagacatagaaggcatgg	16	6	11	8	1	1	3	1	0	0	3	2	5	2	3	1	2	1	1	1	2	5	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:33855069A>T	ENST00000389232.4	+	11	1074	c.1004A>T	c.(1003-1005)aAg>aTg	p.K335M	RYR3_ENST00000415757.3_Missense_Mutation_p.K335M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	335					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGTCACAAGCGAGACATA	0.403													24	35					0	0	0	0	T	33855069	A	T	33855069	3	4	397	1	0	0	0	0	1	0	0	0	13855	72	3	5	1046	5	RYR3	15	33855069	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	2035574	33855069	68676323	280	76368											
LTK	4058	broad.mit.edu	37	chr15	41801279	41801279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggtgtatgaaggatactCcatcttccccatcagcccag	9	10	10	12	0	2	1	1	1	1	0	4	2	4	2	4	3	2	1	4	3	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:41801279C>A	ENST00000263800.6	-	8	1142	c.1046G>T	c.(1045-1047)gGa>gTa	p.G349V	LTK_ENST00000453182.2_Missense_Mutation_p.G288V|LTK_ENST00000355166.5_Missense_Mutation_p.G288V|LTK_ENST00000561619.1_Missense_Mutation_p.G31V	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	349					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GAAGGATACTCCATCTTCCCC	0.577										TSP Lung(18;0.14)			6	39					3.59834e-05	3.86393e-05	1	0	A	41801279	C	A	41801279	3	1	397	1	0	0	0	0	1	0	0	0	9144	855	30	2	1600	2	LTK	15	41801279	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	7946210	41801279	60730113	281	76369											
SPATA5L1	79029	broad.mit.edu	37	chr15	45695581	45695581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggggcagtcgagcacccgaGagccgcgtagtggcccaggt	7	4	17	13	5	0	1	0	0	0	1	1	3	0	1	3	4	2	3	3	4	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:45695581G>C	ENST00000305560.6	+	1	1053	c.954G>C	c.(952-954)gaG>gaC	p.E318D	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E318D	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	318						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GAGCACCCGAGAGCCGCGTAG	0.697													17	17					0	0	0	0	C	45695581	G	C	45695581	3	2	397	1	0	0	0	0	1	0	0	0	15102	933	33	2	956	2	SPATA5L1	15	45695581	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3894302	45695581	56835811	282	76370											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84582010	84582010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgaacggccctgcctcctgGaagcatgtgatgagagcccg	8	6	13	14	3	0	2	0	2	0	1	1	5	1	3	5	2	4	1	5	2	2	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:84582010G>A	ENST00000286744.5	+	16	2091	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E623K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	623	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCCTCCTGGAAGCATGTGA	0.612													18	26					0	0	0	0	A	84582010	G	A	84582010	3	1	397	1	0	0	0	0	1	0	0	0	276	1175	41	2	1925	2	ADAMTSL3	15	84582010	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	38886429	84582010	17949382	283	76371											
SV2B	9899	broad.mit.edu	37	chr15	91811780	91811780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatgtgtacggcgccacaAtcaacttcacgatggaaaat	14	8	9	10	3	2	0	2	0	0	0	2	2	2	1	1	2	3	2	1	2	5	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:91811780A>G	ENST00000394232.1	+	9	1788	c.1318A>G	c.(1318-1320)Atc>Gtc	p.I440V	SV2B_ENST00000545111.2_Missense_Mutation_p.I289V|SV2B_ENST00000330276.4_Missense_Mutation_p.I440V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	440					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CGGCGCCACAATCAACTTCAC	0.428													9	125					0	0	0	0	G	91811780	A	G	91811780	3	3	397	1	0	0	0	0	1	0	0	0	15508	101	4	5	1348	5	SV2B	15	91811780	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	7229770	91811780	10719612	284	76372											
IFT140	9742	broad.mit.edu	37	chr16	1570757	1570757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcatcttttccgccatcTcctcggtgatgctcatgttc	4	15	8	14	3	4	1	2	1	2	0	8	1	5	1	3	2	1	2	3	2	0	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:1570757T>C	ENST00000426508.2	-	27	3869	c.3506A>G	c.(3505-3507)gAg>gGg	p.E1169G	IFT140_ENST00000361339.5_Missense_Mutation_p.E363G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1169										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCCGCCATCTCCTCGGTGAT	0.632													6	11					0	0	0	0	C	1570757	T	C	1570757	3	2	397	1	0	0	0	0	1	0	0	0	7609	1551	54	5	902	5	IFT140	16	1570757	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08		1570757	88783996	285	76373											
PKMYT1	9088	broad.mit.edu	37	chr16	3024069	3024069	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcagggtggtgagccAggcggggtggctggcgggcc	6	5	21	9	2	0	1	0	1	0	0	0	1	0	1	2	8	3	2	2	8	1	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:3024069A>T	ENST00000431515.2	-	7	1627	c.1242T>A	c.(1240-1242)ccT>ccA	p.P414P	PKMYT1_ENST00000262300.8_Silent_p.P414P|PKMYT1_ENST00000574730.1_Silent_p.P345P|PKMYT1_ENST00000574385.1_Silent_p.P405P|PKMYT1_ENST00000440027.2_Silent_p.P414P|PKMYT1_ENST00000573944.1_Silent_p.P405P			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	414	Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGGTGAGCCAGGCGGGGTGG	0.677													3	15					0	0	0	0	T	3024069	A	T	3024069	2	4	397	1	0	0	0	0	0	0	0	1	12050	175	7	5		5	PKMYT1	16	3024069	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	1453312	3024069	87330684	286	76374											
GRIN2A	2903	broad.mit.edu	37	chr16	9857816	9857816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgcggggaacccttGtctttcaaggtgaagtgctt	7	13	12	9	1	3	1	2	1	1	0	3	2	3	2	1	3	3	1	1	3	3	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:9857816G>T	ENST00000396573.2	-	14	3894	c.3585C>A	c.(3583-3585)gaC>gaA	p.D1195E	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1195E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1195E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1195E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1038E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1195E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1195					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAACCCTTGTCTTTCAAGG	0.532													78	211					6.09464e-36	8.80987e-36	1	0	T	9857816	G	T	9857816	3	4	397	1	0	0	0	0	1	0	0	0	6829	1368	48	4	813	4	GRIN2A	16	9857816	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	6833747	9857816	80496937	287	76375											
XYLT1	64131	broad.mit.edu	37	chr16	17211771	17211771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatacccaccggctcatcCatgggccccagaagaccccc	9	5	8	19	1	1	2	1	0	0	2	2	2	2	2	7	2	2	2	7	2	2	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:17211771C>A	ENST00000261381.6	-	11	2373	c.2289G>T	c.(2287-2289)atG>atT	p.M763I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	763					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGGCTCATCCATGGGCCCCA	0.572													23	42					2.48779e-11	3.17846e-11	1	0	A	17211771	C	A	17211771	3	1	397	1	0	0	0	0	1	0	0	0	17559	594	21	4	598	4	XYLT1	16	17211771	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	7353955	17211771	73142982	288	76376											
ACSM3	6296	broad.mit.edu	37	chr16	20793102	20793103	+	Frame_Shift_Ins	INS	-	-	C																															aatgcttgtacagaatgataINStaaccaggtaagaaatgtta																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:20793102_20793103insC	ENST00000289416.5	+	7	1487_1488	c.1012_1013insC	c.(1012-1014)aacfs	p.N338fs	ACSM3_ENST00000440284.2_Frame_Shift_Ins_p.N338fs|ACSM3_ENST00000450120.2_Frame_Shift_Ins_p.N330fs|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	338					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ACAGAATGATATAACCAGGTAA	0.406													14	46	---	---	---	---					C	20793103	-	C	20793102	7	5	397	1	0	1	1	0	0	0	0	0	185	449	16	0	1034	0	ACSM3	16	20793102	Frame_Shift_Ins	INS	-	TCGA-F7-7848-01A-11D-2129-08	3581331	20793102	69561651	289	76377											
SCNN1B	6338	broad.mit.edu	37	chr16	23391744	23391744	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccctgttccccacagatCgtctggctgctctcgaatct	5	12	8	16	2	3	1	0	0	3	1	7	2	5	1	3	1	1	4	3	1	1	1	rs61759916	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:23391744C>T	ENST00000343070.2	+	13	1721	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	SCNN1B_ENST00000568085.1_Silent_p.I479I|SCNN1B_ENST00000568923.1_Silent_p.I488I|SCNN1B_ENST00000307331.5_Silent_p.I560I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	515					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCCACAGATCGTCTGGCTGC	0.582													25	54					0	0	0	0	T	23391744	C	T	23391744	2	4	397	1	0	0	0	0	0	0	0	1	14015	874	31	1		1	SCNN1B	16	23391744	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2598642	23391744	66963009	290	76378											
PALB2	79728	broad.mit.edu	37	chr16	23640992	23640992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttatgcagctcctggCatgtgtttctacagagctga	9	14	10	8	0	1	2	0	1	1	1	2	2	2	2	1	1	4	6	1	1	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:23640992C>A	ENST00000261584.4	-	5	2635	c.2483G>T	c.(2482-2484)tGc>tTc	p.C828F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	828					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCTCCTGGCATGTGTTTCT	0.438			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					11	56					0.010729	0.0109475	1	0	A	23640992	C	A	23640992	3	1	397	1	0	0	0	0	1	0	0	0	11477	710	25	4	1113	4	PALB2	16	23640992	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	249248	23640992	66713761	291	76379											
RBBP6	5930	broad.mit.edu	37	chr16	24578538	24578538	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactaccagcaactccagTctttgtacctgttccaccac	9	11	5	16	0	2	0	1	0	1	0	4	0	4	0	5	0	4	3	5	0	3	4	rs16973840		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:24578538T>G	ENST00000319715.4	+	15	2096	c.1664T>G	c.(1663-1665)gTc>gGc	p.V555G	RBBP6_ENST00000348022.2_Missense_Mutation_p.V555G|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	555			V -> A (in dbSNP:rs16973840).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCAACTCCAGTCTTTGTAcct	0.498													33	105					0	0	0	0	G	24578538	T	G	24578538	3	3	397	1	0	0	0	0	1	0	0	0	13185	1667	58	5	1776	5	RBBP6	16	24578538	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	937546	24578538	65776215	292	76380											
ATP2A1	487	broad.mit.edu	37	chr16	28895897	28895897	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccctactctctccacagtGggggacaaagtccctgcaga	9	9	9	14	0	1	1	0	0	1	1	5	2	4	2	3	2	2	1	3	2	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:28895897G>T	ENST00000395503.4	+	6	649	c.463_splice	c.e6-1	p.V155_splice	ATP2A1_ENST00000357084.3_Splice_Site_p.V155_splice|ATP2A1_ENST00000536376.1_Splice_Site_p.V30_splice	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	155					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTCCACAGTGGGGGACAAAG	0.532													8	25					7.48243e-07	8.45758e-07	1	0	T	28895897	G	T	28895897	5	4	397	1	0	0	0	0	0	0	1	0	1140	1362	47	4	487	4	ATP2A1	16	28895897	Splice_Site	SNP	G	TCGA-F7-7848-01A-11D-2129-08	4317359	28895897	61458856	293	76381											
SETD1A	9739	broad.mit.edu	37	chr16	30977521	30977521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggcccggctgccaccCagggaagaagcagagctggc	10	2	17	12	1	0	2	0	0	0	2	0	5	0	4	3	5	3	3	3	5	2	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:30977521C>T	ENST00000262519.8	+	8	3005	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGCTGCCACCCAGGGAAGAAG	0.667													7	31					0	0	0	0	T	30977521	C	T	30977521	2	4	397	1	0	0	0	0	0	0	0	1	14217	581	21	4		4	SETD1A	16	30977521	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2081624	30977521	59377232	294	76382											
STX4	6810	broad.mit.edu	37	chr16	31045834	31045834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagatcaaacagctggggaGggagatccgcctgcagctga	11	6	15	9	1	1	3	1	2	0	2	2	6	2	4	2	3	4	3	2	3	1	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:31045834G>T	ENST00000394998.1	+	5	621	c.278G>T	c.(277-279)aGg>aTg	p.R93M	STX4_ENST00000313843.3_Missense_Mutation_p.R95M|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	95					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGCTGGGGAGGGAGATCCGC	0.572													3	23					0.00024832	0.000261664	1	0	T	31045834	G	T	31045834	3	4	397	1	0	0	0	0	1	0	0	0	15437	1000	35	4	298	4	STX4	16	31045834	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	68313	31045834	59308919	295	76383											
ZNF668	79759	broad.mit.edu	37	chr16	31075210	31075210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagggccgcaggccagCgtgagtacgccggtgcttgc	5	7	17	12	4	0	1	0	1	0	0	0	1	0	1	3	3	4	5	3	3	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:31075210C>T	ENST00000538906.1	-	2	1355	c.571G>A	c.(571-573)Gct>Act	p.A191T	ZNF668_ENST00000535577.1_Missense_Mutation_p.A191T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A191T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A214T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A214T|ZNF668_ENST00000300849.4_Missense_Mutation_p.A191T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCAGGCCAGCGTGAGTACGC	0.667													5	7					0	0	0	0	T	31075210	C	T	31075210	3	4	397	1	0	0	0	0	1	0	0	0	18170	768	27	1	1296	1	ZNF668	16	31075210	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	29376	31075210	59279543	296	76384											
ABCC12	94160	broad.mit.edu	37	chr16	48119591	48119591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattttctgtgacttctgcCtgtaatttttctgggagttt	5	20	8	8	0	3	1	0	1	3	0	3	2	3	2	2	1	1	2	2	1	1	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:48119591C>A	ENST00000311303.3	-	27	4086	c.3741G>T	c.(3739-3741)caG>caT	p.Q1247H	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1247	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1247H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGACTTCTGCCTGTAATTTTT	0.403													21	31					2.39556e-15	3.30397e-15	1	0	A	48119591	C	A	48119591	3	1	397	1	0	0	0	0	1	0	0	0	52	680	24	4	350	4	ABCC12	16	48119591	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	17044381	48119591	42235162	297	76385											
HSF4	3299	broad.mit.edu	37	chr16	67201122	67201122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacccctacttcatccaGtcggtaggtttgtcttcttc	6	14	8	13	1	3	0	1	0	2	0	6	1	4	1	3	3	1	2	3	3	2	6			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:67201122G>A	ENST00000264009.8	+	9	1691	c.726G>A	c.(724-726)caG>caA	p.Q242Q	HSF4_ENST00000421453.1_Silent_p.Q242Q|HSF4_ENST00000584272.1_Silent_p.Q242Q|HSF4_ENST00000521374.1_Silent_p.Q242Q|HSF4_ENST00000517867.1_3'UTR	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	242					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACTTCATCCAGTCGGTAGGTT	0.567													18	35					0	0	0	0	A	67201122	G	A	67201122	2	1	397	1	0	0	0	0	0	0	0	1	7448	1020	36	4		4	HSF4	16	67201122	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	19081531	67201122	23153631	298	76386											
PLEKHG4	25894	broad.mit.edu	37	chr16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcagagatggtggccacgGagcgggagtatgtccgggct	7	7	19	8	3	0	1	0	0	0	1	1	4	1	3	2	6	1	3	2	6	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622													3	40					0	0	0	0	A	67319227	G	A	67319227	3	1	397	1	0	0	0	0	1	0	0	0	12143	1175	41	2	2280	2	PLEKHG4	16	67319227	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	118105	67319227	23035526	299	76387											
MPHOSPH6	10200	broad.mit.edu	37	chr16	82182435	82182435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtctctctttctggcaaaCtttttcccaattgtccccac	6	16	5	14	0	3	0	0	0	3	0	6	0	5	0	3	2	1	1	3	2	2	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:82182435C>G	ENST00000258169.4	-	5	434	c.384G>C	c.(382-384)aaG>aaC	p.K128N	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.K99N	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	128					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TTCTGGCAAACTTTTTCCCAA	0.398													34	101					0	0	0	0	G	82182435	C	G	82182435	3	3	397	1	0	0	0	0	1	0	0	0	9796	564	20	4	102	4	MPHOSPH6	16	82182435	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	14863208	82182435	8172318	300	76388											
MYBBP1A	10514	broad.mit.edu	37	chr17	4443014	4443014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctggactcttggtggttGgcgtcccgtttgcctgggct	1	13	17	10	2	1	0	0	0	1	0	2	1	2	1	2	6	1	4	2	6	0	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:4443014G>C	ENST00000254718.4	-	26	3989	c.3683C>G	c.(3682-3684)cCa>cGa	p.P1228R	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P1228R			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1228	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTTGGTGGTTGGCGTCCCGTT	0.652													20	58					0	0	0	0	C	4443014	G	C	4443014	3	2	397	1	0	0	0	0	1	0	0	0	10078	1348	47	4	347	4	MYBBP1A	17	4443014	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08		4443014	76752196	301	76389											
BCL6B	255877	broad.mit.edu	37	chr17	6927486	6927486	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtcccgaagcgagaggCttcgcccctctattggactt	6	9	14	12	3	1	1	0	0	1	1	3	4	2	2	3	4	1	1	3	4	2	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:6927486C>G	ENST00000293805.5	+	3	356	c.264C>G	c.(262-264)ggC>ggG	p.G88G	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	88	BTB.					nucleus	zinc ion binding			skin(1)	1						AAGCGAGAGGCTTCGCCCCTC	0.612													41	75					0	0	0	0	G	6927486	C	G	6927486	2	3	397	1	0	0	0	0	0	0	0	1	1381	784	28	4		4	BCL6B	17	6927486	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2484472	6927486	74267724	302	76390											
POLR2A	5430	broad.mit.edu	37	chr17	7399318	7399318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacgactgagggaggccGccccaagcttggggggctga	9	4	18	10	2	0	3	0	2	0	1	0	6	0	4	3	5	1	2	3	5	1	1	rs150809300		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7399318G>C	ENST00000322644.6	+	2	551	c.152G>C	c.(151-153)cGc>cCc	p.R51P	POLR2A_ENST00000572844.1_Missense_Mutation_p.R51P	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	51					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II 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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGGGAGGCCGCCCCAAGCTT	0.592													14	47					0	0	0	0	C	7399318	G	C	7399318	3	2	397	1	0	0	0	0	1	0	0	0	12286	1087	38	3	158	3	POLR2A	17	7399318	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	471832	7399318	73795892	303	76391											
TP53	7157	broad.mit.edu	37	chr17	7577081	7577081	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgcggagattctctTcctctgtgcgccggtctctc	2	16	9	14	3	4	1	0	0	4	1	8	2	5	1	2	2	2	0	2	2	0	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7577081T>A	ENST00000420246.2	-	8	989	c.857A>T	c.(856-858)gAa>gTa	p.E286V	TP53_ENST00000359597.4_Missense_Mutation_p.E286V|TP53_ENST00000269305.4_Missense_Mutation_p.E286V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E286V|TP53_ENST00000455263.2_Missense_Mutation_p.E286V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		GAGATTCTCTTCCTCTGTGCG	0.562		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)			15	27					0	0	0	0	A	7577081	T	A	7577081	3	1	397	1	0	0	0	0	1	0	0	0	16476	1783	62	5	429	5	TP53	17	7577081	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	177763	7577081	73618129	304	76392											
TP53	7157	broad.mit.edu	37	chr17	7579514	7579514	+	Frame_Shift_Del	DEL	G	G	-																															tgggagcttcatctggacctGggtcttcagtgaaccattgt																								rs144386518		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7579514delG	ENST00000420246.2	-	4	305	c.173delC	c.(172-174)cafs	p.P58fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P58fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	58	Interaction with HRMT1L2.		P -> Q (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(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)		ATCTGGACCTGGGTCTTCAGT	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)			48	156	---	---	---	---					-	7579514	G	-	7579514	7	5	397	1	0	1	0	1	0	0	0	0	16476	1348	47	0	1129	0	TP53	17	7579514	Frame_Shift_Del	DEL	G	TCGA-F7-7848-01A-11D-2129-08	2433	7579514	73615696	305	76393											
MYH2	4620	broad.mit.edu	37	chr17	10432120	10432120	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaggttgtcaatctgctCcccaagctcggccacactat	8	10	8	15	1	2	0	1	0	1	0	4	0	3	0	3	2	3	4	3	2	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:10432120C>A	ENST00000245503.5	-	27	4015	c.3631G>T	c.(3631-3633)Gag>Tag	p.E1211*	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E1211*|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1211					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAATCTGCTCCCCAAGCTCG	0.537													33	77					4.74835e-14	6.39256e-14	1	0	A	10432120	C	A	10432120	4	1	397	1	0	0	0	0	0	1	0	0	10105	864	30	2	2250	2	MYH2	17	10432120	Nonsense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	2852606	10432120	70763090	306	76394											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400051	13400052	+	Frame_Shift_Del	DEL	GC	GC	-																															tccttggacatggccgagatGcgcgcgggggcctcccgcgt																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:13400051_13400052delGC	ENST00000284110.1	-	2	1480_1481	c.683_684delGC	c.(682-684)cfs	p.R228fs	HS3ST3A1_ENST00000578576.1_Frame_Shift_Del_p.R26fs	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGCCGAGATGCGCGCGGGGGC	0.639													7	125	---	---	---	---					-	13400052	GC	-	13400051	7	5	397	1	0	1	0	1	0	0	0	0	7415	1306	46	0	540	0	HS3ST3A1	17	13400051	Frame_Shift_Del	DEL	GC	TCGA-F7-7848-01A-11D-2129-08	2967931	13400051	67795159	307	76395											
SLC47A1	55244	broad.mit.edu	37	chr17	19480696	19480696	+	Missense_Mutation	SNP	C	C	A																															atgttggaaagacaggcgagCctcagtcagatcagcagatg																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:19480696C>A	ENST00000270570.4	+	17	1629	c.1543C>A	c.(1543-1545)Cct>Act	p.P515T	SLC47A1_ENST00000571335.1_Missense_Mutation_p.P261T|SLC47A1_ENST00000457293.1_Missense_Mutation_p.P515T|SLC47A1_ENST00000395585.1_Missense_Mutation_p.P515T|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Missense_Mutation_p.P213T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	515						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GACAGGCGAGCCTCAGTCAGA	0.498													26	62					1.64293e-13	2.18573e-13	1	0	A	19480696	C	A	19480696	3	1	397	1	0	0	0	0	1	0	0	0	14735	739	26	4	1609	4	SLC47A1	17	19480696	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	6080645	19480696	61714514	308	76396	1023	2									
SLC47A1	55244	broad.mit.edu	37	chr17	19480697	19480697	+	Missense_Mutation	SNP	C	C	A																															tgttggaaagacaggcgagcCtcagtcagatcagcagatgc																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:19480697C>A	ENST00000270570.4	+	17	1630	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H	SLC47A1_ENST00000571335.1_Missense_Mutation_p.P261H|SLC47A1_ENST00000457293.1_Missense_Mutation_p.P515H|SLC47A1_ENST00000395585.1_Missense_Mutation_p.P515H|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Missense_Mutation_p.P213H	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	515						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACAGGCGAGCCTCAGTCAGAT	0.498													25	63					7.87624e-14	1.05406e-13	1	0	A	19480697	C	A	19480697	3	1	397	1	0	0	0	0	1	0	0	0	14735	681	24	4	1610	4	SLC47A1	17	19480697	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1	19480697	61714513	309	76397	1023	2									
KCNJ12	3768	broad.mit.edu	37	chr17	21319644	21319644	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaccgctttgagcccgtGctcttcgaggagaagaacca	9	8	12	12	3	2	3	1	1	1	2	3	5	2	3	3	2	3	2	3	2	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:21319644G>T	ENST00000583088.1	+	3	1885	c.990G>T	c.(988-990)gtG>gtT	p.V330V	KCNJ12_ENST00000331718.5_Silent_p.V330V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TTGAGCCCGTGCTCTTCGAGG	0.587										Prostate(3;0.18)			11	163					1.58986e-06	1.77044e-06	1	0	T	21319644	G	T	21319644	2	4	397	1	0	0	0	0	0	0	0	1	8099	1306	46	4		4	KCNJ12	17	21319644	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1838947	21319644	59875566	310	76398											
CSHL1	1444	broad.mit.edu	37	chr17	61987372	61987372	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcagggtgtagagaaagGcctggaggattcacgagggg	10	7	17	7	1	2	1	2	0	0	1	2	5	2	3	2	6	0	1	2	6	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:61987372G>A	ENST00000450719.3	-	3	576	c.339C>T	c.(337-339)ggC>ggT	p.G113G	CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_Silent_p.G124G|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GTAGAGAAAGGCCTGGAGGAT	0.527													27	83					0	0	0	0	A	61987372	G	A	61987372	2	1	397	1	0	0	0	0	0	0	0	1	3974	1218	42	4		4	CSHL1	17	61987372	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	40667728	61987372	19207838	311	76399											
ABCA10	10349	broad.mit.edu	37	chr17	67148622	67148622	+	Splice_Site	DEL	C	C	-																															acggtagcctgaagtatctgCctaaagataaagtaagggat																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:67148622delC	ENST00000269081.4	-	36	5046	c.4136_splice	c.e36-1	p.W1379_splice	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1379	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAAGTATCTGCCTAAAGATAA	0.403													15	51	---	---	---	---					-	67148622	C	-	67148622	8	5	397	1	0	1	0	1	0	0	1	0	29	753	26	0	514	0	ABCA10	17	67148622	Splice_Site	DEL	C	TCGA-F7-7848-01A-11D-2129-08	5161250	67148622	14046588	312	76400											
CYTH1	9267	broad.mit.edu	37	chr17	76692093	76692093	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggttacatacctccTggagtttggggcaaggaaaa	11	9	14	7	0	0	1	0	1	0	0	1	3	1	3	2	5	2	4	2	5	5	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:76692093T>G	ENST00000589297.1	-	10	1327		c.e10-2		CYTH1_ENST00000585509.1_Splice_Site|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Splice_Site|CYTH1_ENST00000591455.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ACATACCTCCTGGAGTTTGGG	0.388													14	20					0	0	0	0	G	76692093	T	G	76692093	5	3	397	1	0	0	0	0	0	0	1	0	4235	1595	55	5		5	CYTH1	17	76692093	Splice_Site	SNP	T	TCGA-F7-7848-01A-11D-2129-08	9543471	76692093	4503117	313	76401											
TMEM200C	645369	broad.mit.edu	37	chr18	5891793	5891793	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggctgctgcccgcaggCggcagctgcttacccccctc	3	7	13	18	3	0	0	0	0	0	0	1	0	0	0	4	4	5	6	4	4	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:5891793C>G	ENST00000581347.1	-	3	915	c.270G>C	c.(268-270)ccG>ccC	p.P90P	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.P90P			A6NKL6	T200C_HUMAN	transmembrane protein 200C	90						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGCCCGCAGGCGGCAGCTGCT	0.672													20	20					0	0	0	0	G	5891793	C	G	5891793	2	3	397	1	0	0	0	0	0	0	0	1	16219	755	27	3		3	TMEM200C	18	5891793	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08		5891793	72185455	314	76402											
PTPRM	5797	broad.mit.edu	37	chr18	7955363	7955363	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccaggccaggggagggTggcactggctctcctggtcc	5	7	16	13	0	1	1	0	1	1	0	3	2	2	2	4	7	0	2	4	7	0	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:7955363T>A	ENST00000332175.8	+	7	2120	c.1083T>A	c.(1081-1083)ggT>ggA	p.G361G	PTPRM_ENST00000400053.4_Silent_p.G299G|PTPRM_ENST00000400060.4_Silent_p.G361G|PTPRM_ENST00000580170.1_Silent_p.G361G|PTPRM_ENST00000444013.1_Silent_p.G148G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	361	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGGGGAGGGTGGCACTGGCT	0.498													22	21					0	0	0	0	A	7955363	T	A	7955363	2	1	397	1	0	0	0	0	0	0	0	1	12888	1683	59	5		5	PTPRM	18	7955363	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	2063570	7955363	70121885	315	76403											
CELF5	60680	broad.mit.edu	37	chr19	3282450	3282450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccctttccaggtgggcaCcctgccctggaaaccgtcta	6	9	11	15	1	1	0	0	0	1	0	2	1	2	1	5	3	3	1	5	3	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:3282450C>A	ENST00000541430.2	+	8	954	c.918C>A	c.(916-918)caC>caA	p.H306Q	CELF5_ENST00000292672.2_Missense_Mutation_p.H331Q|CELF5_ENST00000588101.1_3'UTR	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	331					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CAGGTGGGCACCCTGCCCTGG	0.622													7	35					0.000274275	0.00028767	1	0	A	3282450	C	A	3282450	3	1	397	1	0	0	0	0	1	0	0	0	3248	506	18	4	1023	4	CELF5	19	3282450	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08		3282450	55846533	316	76404											
FUT6	2528	broad.mit.edu	37	chr19	5831891	5831891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccatcatggttccctGgggcaggggcttgtgggagc	4	10	16	11	1	2	0	1	0	1	0	4	1	3	1	2	6	1	3	2	6	0	2	rs364637	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:5831891G>T	ENST00000318336.4	-	3	1882	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	FUT6_ENST00000592563.1_Missense_Mutation_p.Q230K|FUT6_ENST00000286955.5_Missense_Mutation_p.Q230K|FUT6_ENST00000527106.1_Missense_Mutation_p.Q230K|FUT6_ENST00000524754.1_Missense_Mutation_p.Q230K	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	230			Q -> K (in dbSNP:rs364637).		L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATGGTTCCCTGGGGCAGGGGC	0.612													16	77					1.1804e-14	1.61321e-14	1	0	T	5831891	G	T	5831891	3	4	397	1	0	0	0	0	1	0	0	0	6156	1357	47	4	395	4	FUT6	19	5831891	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2549441	5831891	53297092	317	76405											
ZNF440	126070	broad.mit.edu	37	chr19	11943503	11943503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccagttccttttgatatCatgaaaggactcacactgga	11	13	8	9	0	2	2	2	2	0	0	4	4	4	4	2	2	0	2	2	2	2	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:11943503C>G	ENST00000304060.5	+	4	1676	c.1512C>G	c.(1510-1512)atC>atG	p.I504M		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTTTGATATCATGAAAGGAC	0.423													17	40					0	0	0	0	G	11943503	C	G	11943503	3	3	397	1	0	0	0	0	1	0	0	0	18008	816	29	2	1526	2	ZNF440	19	11943503	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	6111612	11943503	47185480	318	76406											
ZNF440	126070	broad.mit.edu	37	chr19	11943668	11943668	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctgccccacacctttgaAtacgtggtaggacacacaat	12	9	8	12	1	1	1	0	1	1	0	1	3	1	2	3	2	2	1	3	2	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:11943668A>G	ENST00000304060.5	+	4	1841	c.1677A>G	c.(1675-1677)gaA>gaG	p.E559E		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACACCTTTGAATACGTGGTAG	0.478													19	44					0	0	0	0	G	11943668	A	G	11943668	2	3	397	1	0	0	0	0	0	0	0	1	18008	98	4	5		5	ZNF440	19	11943668	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	165	11943668	47185315	319	76407											
ZNF700	90592	broad.mit.edu	37	chr19	12060260	12060260	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactggagagaaaccctAtgaatgtaaggaatgtggga	15	9	12	5	0	1	2	1	1	0	1	1	6	1	5	1	3	2	1	1	3	6	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:12060260A>T	ENST00000482090.1	+	3	1785	c.1367A>T	c.(1366-1368)tAt>tTt	p.Y456F	ZNF700_ENST00000254321.5_Missense_Mutation_p.Y474F|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAGAAACCCTATGAATGTAAG	0.433													13	51					0	0	0	0	T	12060260	A	T	12060260	3	4	397	1	0	0	0	0	1	0	0	0	18199	449	16	5	1435	5	ZNF700	19	12060260	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	116592	12060260	47068723	320	76408											
BEST2	54831	broad.mit.edu	37	chr19	12867030	12867030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttgtactgggatgcagccGaggctcgcgccccatacaca	9	7	11	14	3	0	0	0	0	0	0	1	2	0	1	3	2	4	3	3	2	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:12867030G>A	ENST00000549706.1	+	9	1348	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	BEST2_ENST00000042931.1_Missense_Mutation_p.E342K|BEST2_ENST00000553030.1_Missense_Mutation_p.E342K			Q8NFU1	BEST2_HUMAN	bestrophin 2	342					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GGATGCAGCCGAGGCTCGCGC	0.592													24	117					0	0	0	0	A	12867030	G	A	12867030	3	1	397	1	0	0	0	0	1	0	0	0	1409	1059	37	1	1054	1	BEST2	19	12867030	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	806770	12867030	46261953	321	76409											
NACC1	112939	broad.mit.edu	37	chr19	13247186	13247186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accccaagctctacgacgagGgcgacccctctgagaagctg	10	5	11	15	3	2	1	0	1	2	1	2	5	2	1	4	1	3	2	4	1	3	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:13247186G>T	ENST00000292431.4	+	3	1213	c.1087G>T	c.(1087-1089)Ggc>Tgc	p.G363C		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	363					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CTACGACGAGGGCGACCCCTC	0.652													9	42					7.48243e-07	8.45758e-07	1	0	T	13247186	G	T	13247186	3	4	397	1	0	0	0	0	1	0	0	0	10205	1232	43	4	1093	4	NACC1	19	13247186	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	380156	13247186	45881797	322	76410											
ZNF536	9745	broad.mit.edu	37	chr19	30935685	30935685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcggtgaagaacaagtccCccagcgaccccgaggtgcct	9	6	12	14	3	0	2	0	1	0	1	2	4	1	2	5	2	3	0	5	2	3	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:30935685C>G	ENST00000355537.3	+	2	1363	c.1216C>G	c.(1216-1218)Ccc>Gcc	p.P406A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P406T(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAACAAGTCCCCCAGCGACCC	0.622													14	36					0	0	0	0	G	30935685	C	G	30935685	3	3	397	1	0	0	0	0	1	0	0	0	18069	623	22	4	1218	4	ZNF536	19	30935685	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	17688499	30935685	28193298	323	76411											
KIRREL2	84063	broad.mit.edu	37	chr19	36351814	36351814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtctctttcgtccagttgGgccgattctgcaggcaaagc	7	12	11	11	2	2	0	0	0	2	0	5	1	3	0	2	2	2	3	2	2	2	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:36351814G>C	ENST00000360202.5	+	8	1130	c.932G>C	c.(931-933)gGg>gCg	p.G311A	KIRREL2_ENST00000347900.6_Missense_Mutation_p.G261A|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G311A|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G311A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G291A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	311					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTCCAGTTGGGCCGATTCTG	0.652													11	20					0	0	0	0	C	36351814	G	C	36351814	3	2	397	1	0	0	0	0	1	0	0	0	8377	1232	43	4	962	4	KIRREL2	19	36351814	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	5416129	36351814	22777169	324	76412											
ZNF780B	163131	broad.mit.edu	37	chr19	40542336	40542336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatttcttcatagctgaTgatcttctggttgatatatc	9	17	8	7	0	4	3	1	3	3	0	5	3	4	3	0	2	1	3	0	2	3	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:40542336T>C	ENST00000434248.1	-	5	495	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATAGCTGATGATCTTCTGG	0.373													13	31					0	0	0	0	C	40542336	T	C	40542336	3	2	397	1	0	0	0	0	1	0	0	0	18246	1464	51	5	2075	5	ZNF780B	19	40542336	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	4190522	40542336	18586647	325	76413											
SPTBN4	57731	broad.mit.edu	37	chr19	40978616	40978616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgctgggagagtccggatCggggctgggagcgggagcag	6	4	21	10	4	0	1	0	0	0	1	2	5	1	4	2	6	2	3	2	6	0	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:40978616C>T	ENST00000352632.3	+	2	174	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R30W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R30W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R30W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R30W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	30	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTCCGGATCGGGGCTGGGA	0.672													5	16					0	0	0	0	T	40978616	C	T	40978616	3	4	397	1	0	0	0	0	1	0	0	0	15211	875	31	1	90	1	SPTBN4	19	40978616	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	436280	40978616	18150367	326	76414											
DMRTC2	63946	broad.mit.edu	37	chr19	42354396	42354396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagacactcaactctgataCtccagccctgtggcacccca	10	8	6	17	0	2	2	1	1	1	1	3	2	3	2	4	1	3	1	4	1	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:42354396C>T	ENST00000269945.3	+	7	823	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	DMRTC2_ENST00000596827.1_Missense_Mutation_p.L258F	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	258	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AACTCTGATACTCCAGCCCTG	0.537													49	157					0	0	0	0	T	42354396	C	T	42354396	3	4	397	1	0	0	0	0	1	0	0	0	4628	565	20	4	794	4	DMRTC2	19	42354396	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1375780	42354396	16774587	327	76415											
QPCTL	54814	broad.mit.edu	37	chr19	46205167	46205167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaccacatccccttcctccGcagaggtaccagctgcaggg	8	6	10	17	2	0	1	0	0	0	1	3	2	3	1	6	2	3	4	6	2	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:46205167G>A	ENST00000012049.5	+	6	1219	c.998G>A	c.(997-999)cGc>cAc	p.R333H	QPCTL_ENST00000366382.4_Missense_Mutation_p.R239H	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	333					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCCTTCCTCCGCAGAGGTACC	0.592													13	16					0	0	0	0	A	46205167	G	A	46205167	3	1	397	1	0	0	0	0	1	0	0	0	12957	1087	38	1	1020	1	QPCTL	19	46205167	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	3850771	46205167	12923816	328	76416											
NLRP12	91662	broad.mit.edu	37	chr19	54304538	54304538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcacacagcagcagcaccCcgaggtcccccagctcattc	9	5	7	20	1	2	0	2	0	0	0	4	1	3	0	5	1	4	4	5	1	0	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:54304538C>A	ENST00000324134.6	-	7	2867	c.2699G>T	c.(2698-2700)gGg>gTg	p.G900V	NLRP12_ENST00000391773.1_Missense_Mutation_p.G901V|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.G901V|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.G900V|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.G900V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	900					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGCAGCACCCCGAGGTCCCC	0.622													10	33					7.48243e-07	8.45758e-07	1	0	A	54304538	C	A	54304538	3	1	397	1	0	0	0	0	1	0	0	0	10544	623	22	4	502	4	NLRP12	19	54304538	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	8099371	54304538	4824445	329	76417											
MBOAT7	79143	broad.mit.edu	37	chr19	54692190	54692190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggctgctccccatctcttCagcccaggacctgcaggggg	5	7	13	16	1	2	0	1	0	1	0	4	1	3	1	4	4	3	3	4	4	0	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:54692190C>T	ENST00000245615.1	-	3	567	c.87G>A	c.(85-87)ctG>ctA	p.L29L	MBOAT7_ENST00000338624.6_5'UTR|MBOAT7_ENST00000431666.2_5'UTR|MBOAT7_ENST00000391754.1_Silent_p.L29L|MBOAT7_ENST00000474910.1_5'UTR	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	29					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCATCTCTTCAGCCCAGGAC	0.642													10	31					0	0	0	0	T	54692190	C	T	54692190	2	4	397	1	0	0	0	0	0	0	0	1	9427	813	29	2		2	MBOAT7	19	54692190	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	387652	54692190	4436793	330	76418											
NLRP7	199713	broad.mit.edu	37	chr19	55446005	55446005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaattcagcccactgctccgGggtggcacagtgacctccca	8	7	11	15	1	1	1	1	1	0	0	3	2	3	1	4	3	2	2	4	3	1	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:55446005G>T	ENST00000446217.1	-	9	2809	c.2407C>A	c.(2407-2409)Ccg>Acg	p.P803T	NLRP7_ENST00000328092.5_Missense_Mutation_p.P747T|NLRP7_ENST00000340844.2_Missense_Mutation_p.P775T|NLRP7_ENST00000592784.1_Missense_Mutation_p.P775T|NLRP7_ENST00000590030.1_Missense_Mutation_p.P775T|NLRP7_ENST00000588756.1_Missense_Mutation_p.P775T|NLRP7_ENST00000448121.2_Missense_Mutation_p.P747T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	775							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CACTGCTCCGGGGTGGCACAG	0.502													10	24					0.00829132	0.0084986	1	0	T	55446005	G	T	55446005	3	4	397	1	0	0	0	0	1	0	0	0	10552	1232	43	4	810	4	NLRP7	19	55446005	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	753815	55446005	3682978	331	76419											
UBE2S	27338	broad.mit.edu	37	chr19	55915802	55915802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggaagtccttccccaGcaggagtttcatgcggaaca	10	7	13	11	1	1	0	1	0	0	0	3	3	3	3	3	4	3	3	3	4	2	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:55915802G>A	ENST00000264552.9	-	3	383	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	UBE2S_ENST00000589978.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	66					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		TCCTTCCCCAGCAGGAGTTTC	0.612													6	16					0	0	0	0	A	55915802	G	A	55915802	2	1	397	1	0	0	0	0	0	0	0	1	16968	962	34	4		4	UBE2S	19	55915802	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	469797	55915802	3213181	332	76420											
NLRP8	126205	broad.mit.edu	37	chr19	56459511	56459511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggtcgagacagccagctgGgcagaggtggttcatctctt	8	9	14	10	1	2	2	1	0	1	2	4	3	2	2	1	4	2	3	1	4	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:56459511G>T	ENST00000291971.3	+	1	314	c.243G>T	c.(241-243)tgG>tgT	p.W81C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W81C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	81	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGCCAGCTGGGCAGAGGTGG	0.522													16	39					2.31682e-05	2.49376e-05	1	0	T	56459511	G	T	56459511	3	4	397	1	0	0	0	0	1	0	0	0	10553	1241	43	4	245	4	NLRP8	19	56459511	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	543709	56459511	2669472	333	76421											
ZNF582	147948	broad.mit.edu	37	chr19	56901748	56901748	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagatcaccttacccagTgagaccaggttgctgtaggt	10	9	12	10	1	1	2	1	1	0	2	1	5	1	2	3	2	2	3	3	2	2	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:56901748T>C	ENST00000301310.4	-	3	290	c.132A>G	c.(130-132)tcA>tcG	p.S44S	ZNF582_ENST00000586929.1_Silent_p.S44S	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CCTTACCCAGTGAGACCAGGT	0.488													38	73					0	0	0	0	C	56901748	T	C	56901748	2	2	397	1	0	0	0	0	0	0	0	1	18109	1683	59	5		5	ZNF582	19	56901748	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	442237	56901748	2227235	334	76422											
PEG3	5178	broad.mit.edu	37	chr19	57327096	57327096	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccaggaacacttttcTgaggtttggcacggaataca	10	11	9	11	1	2	1	0	1	2	0	3	3	2	3	2	4	2	2	2	4	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:57327096T>A	ENST00000326441.9	-	10	3077	c.2714A>T	c.(2713-2715)cAg>cTg	p.Q905L	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q779L|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q905L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q781L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	905					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACACTTTTCTGAGGTTTGGC	0.478													27	79					0	0	0	0	A	57327096	T	A	57327096	3	1	397	1	0	0	0	0	1	0	0	0	11791	1580	55	5	2056	5	PEG3	19	57327096	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	425348	57327096	1801887	335	76423											
ZIM3	114026	broad.mit.edu	37	chr19	57646302	57646302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctatctggagtgaattCttttctggtgcctaacaagg	8	14	10	9	0	3	1	0	1	3	0	4	2	4	2	2	3	2	1	2	3	4	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:57646302C>A	ENST00000269834.1	-	5	1788	c.1403G>T	c.(1402-1404)aGa>aTa	p.R468I		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R468I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGTGAATTCTTTTCTGGTG	0.423													15	74					3.27435e-08	3.83567e-08	1	0	A	57646302	C	A	57646302	3	1	397	1	0	0	0	0	1	0	0	0	17780	913	32	2	19	2	ZIM3	19	57646302	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	319206	57646302	1482681	336	76424											
ZNF530	348327	broad.mit.edu	37	chr19	58117342	58117342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagctctttaaagtggatgGggaccaggcctcatttatga	11	11	12	7	0	2	1	1	1	1	0	2	4	2	3	2	4	1	1	2	4	4	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:58117342G>T	ENST00000332854.6	+	3	669	c.449G>T	c.(448-450)gGg>gTg	p.G150V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGTGGATGGGGACCAGGCC	0.473													28	55					1.77063e-15	2.44956e-15	1	0	T	58117342	G	T	58117342	3	4	397	1	0	0	0	0	1	0	0	0	18066	1232	43	4	459	4	ZNF530	19	58117342	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	471040	58117342	1011641	337	76425											
ZNF329	79673	broad.mit.edu	37	chr19	58639938	58639938	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacatctatatggtttttcCcctgtatgagttctttggtg	6	20	8	7	0	2	1	0	1	2	0	3	1	3	1	2	2	1	3	2	2	4	8			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:58639938C>G	ENST00000598312.1	-	4	1166	c.933G>C	c.(931-933)ggG>ggC	p.G311G	ZNF329_ENST00000358067.4_Silent_p.G311G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ATGGTTTTTCCCCTGTATGAG	0.433													25	88					0	0	0	0	G	58639938	C	G	58639938	2	3	397	1	0	0	0	0	0	0	0	1	17942	610	22	4		4	ZNF329	19	58639938	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	522596	58639938	489045	338	76426											
SIRPA	140885	broad.mit.edu	37	chr20	1918052	1918052	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggagcccaacaaccacacGgagtatgccagcattcagac	13	4	10	14	2	1	1	1	0	0	1	1	3	1	3	3	2	5	2	3	2	3	2	rs149536101	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:1918052G>T	ENST00000358771.4	+	8	1505	c.1353G>T	c.(1351-1353)acG>acT	p.T451T	SIRPA_ENST00000356025.3_Silent_p.T451T|SIRPA_ENST00000400068.3_Silent_p.T455T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	451					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAACCACACGGAGTATGCCA	0.582													6	65					0.217242	0.217725	1	0	T	1918052	G	T	1918052	2	4	397	1	0	0	0	0	0	0	0	1	14420	1103	39	3		3	SIRPA	20	1918052	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08		1918052	61107468	339	76427											
C20orf26	26074	broad.mit.edu	37	chr20	20177327	20177327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctcaaccccattttccgGcactacaccaagttctttct	8	12	4	17	1	3	0	1	0	2	0	4	0	4	0	5	1	2	2	5	1	3	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:20177327G>A	ENST00000245957.5	+	16	1780	c.1704G>A	c.(1702-1704)cgG>cgA	p.R568R	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	568										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCATTTTCCGGCACTACACCA	0.468													31	37					0	0	0	0	A	20177327	G	A	20177327	2	1	397	1	0	0	0	0	0	0	0	1	2126	1190	42	4		4	C20orf26	20	20177327	Silent	SNP	G	TCGA-F7-7848-01A-11D-2129-08	18259275	20177327	42848193	340	76428											
SUN5	140732	broad.mit.edu	37	chr20	31590391	31590392	+	Splice_Site	DEL	AC	AC	-																															tgattattcagtatatacgtAcacacacatcccagcatgca																										TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:31590391_31590392delAC	ENST00000356173.3	-	3	304		c.e3+1		SUN5_ENST00000375523.3_Intron|SUN5_ENST00000375519.2_Splice_Site	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5						spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTATATACGTACACACACATCC	0.554													15	37	---	---	---	---					-	31590392	AC	-	31590391	8	5	397	1	0	1	0	1	0	0	1	0	15484	405	14	0	970	0	SUN5	20	31590391	Splice_Site	DEL	AC	TCGA-F7-7848-01A-11D-2129-08	11413064	31590391	31435129	341	76429											
KIAA1755	85449	broad.mit.edu	37	chr20	36869162	36869162	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggaggaggtgtttctgctAgggcagggcatgggcttggg	5	9	22	5	0	1	0	0	0	1	0	1	2	1	2	0	8	1	5	0	8	1	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:36869162A>G	ENST00000279024.4	-	3	1642	c.1371T>C	c.(1369-1371)ccT>ccC	p.P457P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	457										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTTTCTGCTAGGGCAGGGCA	0.572													24	56					0	0	0	0	G	36869162	A	G	36869162	2	3	397	1	0	0	0	0	0	0	0	1	8308	407	15	5		5	KIAA1755	20	36869162	Silent	SNP	A	TCGA-F7-7848-01A-11D-2129-08	5278771	36869162	26156358	342	76430											
ZFP64	55734	broad.mit.edu	37	chr20	50776766	50776766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagtggatcctcaggtgcTtgttgaggctgctgctgtcg	4	12	15	10	2	1	1	1	1	0	0	3	3	2	2	2	3	3	5	2	3	0	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:50776766T>C	ENST00000216923.4	-	5	1008	c.659A>G	c.(658-660)aAg>aGg	p.K220R	ZFP64_ENST00000371515.4_Missense_Mutation_p.K218R|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Missense_Mutation_p.K166R|ZFP64_ENST00000371518.2_Missense_Mutation_p.K220R|ZFP64_ENST00000361387.2_Missense_Mutation_p.K220R	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCAGGTGCTTGTTGAGGCT	0.597													31	102					0	0	0	0	C	50776766	T	C	50776766	3	2	397	1	0	0	0	0	1	0	0	0	17747	1609	56	5	2585	5	ZFP64	20	50776766	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	13907604	50776766	12248754	343	76431											
ZNF217	7764	broad.mit.edu	37	chr20	52198454	52198454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcaaatggcaacttttccTttggtagccagctgccaagc	9	11	10	11	0	0	0	0	0	0	0	1	0	1	0	3	3	5	4	3	3	4	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:52198454T>A	ENST00000371471.2	-	2	1337	c.912A>T	c.(910-912)aaA>aaT	p.K304N	ZNF217_ENST00000302342.3_Missense_Mutation_p.K304N			O75362	ZN217_HUMAN	zinc finger protein 217	304					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAACTTTTCCTTTGGTAGCCA	0.517													30	91					0	0	0	0	A	52198454	T	A	52198454	3	1	397	1	0	0	0	0	1	0	0	0	17867	1606	56	5	2250	5	ZNF217	20	52198454	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	1421688	52198454	10827066	344	76432											
BCAS1	8537	broad.mit.edu	37	chr20	52612559	52612559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcagttccaagttcttGtccttctttttccttgccgt	4	18	6	13	2	2	0	0	0	2	0	6	0	6	0	5	0	1	3	5	0	1	7			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:52612559G>T	ENST00000395961.3	-	5	920	c.754C>A	c.(754-756)Caa>Aaa	p.Q252K	BCAS1_ENST00000371440.3_Missense_Mutation_p.Q252K|BCAS1_ENST00000434986.2_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.Q252K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	252						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAAGTTCTTGTCCTTCTTTT	0.473													23	48					5.35356e-11	6.76318e-11	1	0	T	52612559	G	T	52612559	3	4	397	1	0	0	0	0	1	0	0	0	1354	1386	48	4	1032	4	BCAS1	20	52612559	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	414105	52612559	10412961	345	76433											
MORC3	23515	broad.mit.edu	37	chr21	37741308	37741308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaaacggagactttctactCgttcctcaattttgaatgca	11	14	7	9	2	2	3	1	2	1	1	4	4	3	3	1	1	3	2	1	1	4	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr21:37741308C>G	ENST00000400485.1	+	15	1718	c.1642C>G	c.(1642-1644)Cgt>Ggt	p.R548G	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	548					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ACTTTCTACTCGTTCCTCAAT	0.299													6	22					0	0	0	0	G	37741308	C	G	37741308	3	3	397	1	0	0	0	0	1	0	0	0	9773	884	31	3	1700	3	MORC3	21	37741308	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08		37741308	10388587	346	76434											
HPS4	89781	broad.mit.edu	37	chr22	26873050	26873050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaatgtcagaaacacagCggacaactccagcaatctgt	16	6	8	11	1	2	2	1	0	1	2	3	3	3	3	1	1	4	1	1	1	4	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:26873050C>A	ENST00000398145.2	-	4	801	c.185G>T	c.(184-186)cGc>cTc	p.R62L	HPS4_ENST00000336873.5_Missense_Mutation_p.R62L|HPS4_ENST00000402105.3_Missense_Mutation_p.R57L|HPS4_ENST00000398141.1_Missense_Mutation_p.R57L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	62					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGAAACACAGCGGACAACTCC	0.443									Hermansky-Pudlak syndrome				10	40					1.58986e-06	1.77044e-06	1	0	A	26873050	C	A	26873050	3	1	397	1	0	0	0	0	1	0	0	0	7391	768	27	3	1985	3	HPS4	22	26873050	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08		26873050	24431516	347	76435											
SLC5A4	6527	broad.mit.edu	37	chr22	32643427	32643427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccacacagatgaagaGggagaggatggagaggtaga	18	3	15	5	0	0	6	0	1	0	5	0	9	0	7	1	4	1	1	1	4	4	1			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:32643427G>T	ENST00000266086.4	-	5	459	c.448C>A	c.(448-450)Ctc>Atc	p.L150I	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	150					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGATGAAGAGGGAGAGGATG	0.498													6	30					8.12818e-05	8.62544e-05	1	0	T	32643427	G	T	32643427	3	4	397	1	0	0	0	0	1	0	0	0	14755	1000	35	4	1575	4	SLC5A4	22	32643427	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	5770377	32643427	18661139	348	76436											
GRAMD4	23151	broad.mit.edu	37	chr22	47062734	47062734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgccagggggtggcggatAcagtggagcatcgtgcccga	7	7	17	10	4	0	0	0	0	0	0	2	3	0	2	2	5	3	1	2	5	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:47062734A>G	ENST00000406902.1	+	10	1035	c.822A>G	c.(820-822)atA>atG	p.I274M	GRAMD4_ENST00000361034.3_Missense_Mutation_p.I274M			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	274					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGTGGCGGATACAGTGGAGCA	0.622													22	66					0	0	0	0	G	47062734	A	G	47062734	3	3	397	1	0	0	0	0	1	0	0	0	6802	381	14	5	856	5	GRAMD4	22	47062734	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	14419307	47062734	4241832	349	76437											
SBF1	6305	broad.mit.edu	37	chr22	50893510	50893510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacggcgggacacatggtggTagccgaggaacttgaggtag	11	6	17	7	3	0	1	0	1	0	0	0	4	0	3	1	6	3	2	1	6	4	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:50893510T>C	ENST00000380817.2	-	34	4799	c.4616A>G	c.(4615-4617)tAc>tGc	p.Y1539C	SBF1_ENST00000390679.3_Missense_Mutation_p.Y1513C|SBF1_ENST00000348911.6_Missense_Mutation_p.Y1514C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1513	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACATGGTGGTAGCCGAGGAA	0.622													4	24					0	0	0	0	C	50893510	T	C	50893510	3	2	397	1	0	0	0	0	1	0	0	0	13944	1638	57	5	1097	5	SBF1	22	50893510	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	3830776	50893510	411056	350	76438											
IL1RAPL1	11141	broad.mit.edu	37	chrX	28807464	28807464	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaagagctggaagatgAaagctccgattccacacttg	12	10	9	10	1	0	3	0	1	0	2	2	5	2	4	3	1	2	2	3	1	3	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:28807464A>T	ENST00000378993.1	+	2	677	c.4A>T	c.(4-6)Aaa>Taa	p.K2*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.K2*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	2					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGGAAGATGAAAGCTCCGAT	0.348													23	18					0	0	0	0	T	28807464	A	T	28807464	4	4	397	1	0	0	0	0	0	1	0	0	7714	247	9	5	6	5	IL1RAPL1	23	28807464	Nonsense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08		28807464	126463096	351	76439											
CXorf21	80231	broad.mit.edu	37	chrX	30577959	30577959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggaaagtcactgggctGagtagaaatggaatcctcca	12	9	13	7	0	1	2	1	1	0	1	3	4	3	4	2	4	0	2	2	4	4	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:30577959G>T	ENST00000378962.3	-	3	836	c.514C>A	c.(514-516)Cag>Aag	p.Q172K		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	172										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TCACTGGGCTGAGTAGAAATG	0.428													36	20					2.09667e-21	2.98295e-21	1	0	T	30577959	G	T	30577959	3	4	397	1	0	0	0	0	1	0	0	0	4133	1299	45	2	395	2	CXorf21	23	30577959	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	1770495	30577959	124692601	352	76440											
DMD	1756	broad.mit.edu	37	chrX	31496420	31496420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggttcaatttttcccactCagtattgacctcctcagcct	8	14	5	14	0	3	1	3	1	0	0	5	1	5	1	4	1	1	2	4	1	2	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:31496420C>G	ENST00000357033.4	-	59	8946	c.8740G>C	c.(8740-8742)Gag>Cag	p.E2914Q	DMD_ENST00000474231.1_Missense_Mutation_p.E454Q|DMD_ENST00000359836.1_Missense_Mutation_p.E454Q|DMD_ENST00000343523.2_Missense_Mutation_p.E454Q|DMD_ENST00000541735.1_Missense_Mutation_p.E454Q|DMD_ENST00000378677.2_Missense_Mutation_p.E2910Q|DMD_ENST00000378707.3_Missense_Mutation_p.E454Q	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	2914					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			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)				TTTTCCCACTCAGTATTGACC	0.498													24	20					0	0	0	0	G	31496420	C	G	31496420	3	3	397	1	0	0	0	0	1	0	0	0	4617	835	29	2	2515	2	DMD	23	31496420	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	918461	31496420	123774140	353	76441											
DMD	1756	broad.mit.edu	37	chrX	32519917	32519917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctgatctgctggcatCttgcagttttctgaacttct	6	16	9	10	0	4	3	0	3	4	0	4	3	4	3	0	1	4	5	0	1	1	4			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:32519917C>A	ENST00000357033.4	-	19	2541	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y	DMD_ENST00000378677.2_Missense_Mutation_p.D775Y	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	779					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			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)				CTGCTGGCATCTTGCAGTTTT	0.413													8	6					0.000274275	0.00028767	1	0	A	32519917	C	A	32519917	3	1	397	1	0	0	0	0	1	0	0	0	4617	913	32	2	9209	2	DMD	23	32519917	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1023497	32519917	122750643	354	76442											
CXorf22	170063	broad.mit.edu	37	chrX	35993268	35993268	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcattttttttcagggccTtctgtccttaactttggtaa	6	21	6	8	0	3	0	2	0	1	0	4	0	4	0	2	2	1	1	2	2	2	9			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:35993268T>G	ENST00000297866.5	+	14	2325	c.2259T>G	c.(2257-2259)ccT>ccG	p.P753P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	753										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTCAGGGCCTTCTGTCCTTA	0.284													29	25					0	0	0	0	G	35993268	T	G	35993268	2	3	397	1	0	0	0	0	0	0	0	1	4134	1596	56	5		5	CXorf22	23	35993268	Silent	SNP	T	TCGA-F7-7848-01A-11D-2129-08	3473351	35993268	119277292	355	76443											
SYTL5	94122	broad.mit.edu	37	chrX	37913470	37913470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccctcttctttcaggaagCtgaaaaatgaactcttagaa	13	12	6	10	0	4	3	1	2	3	1	5	4	5	4	2	1	2	1	2	1	6	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:37913470C>A	ENST00000357972.5	+	3	670	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	SYTL5_ENST00000456733.2_Missense_Mutation_p.L42M|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.L42M			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	42	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTTCAGGAAGCTGAAAAATGA	0.358													10	10					1.76689e-08	2.08604e-08	1	0	A	37913470	C	A	37913470	3	1	397	1	0	0	0	0	1	0	0	0	15577	796	28	4	130	4	SYTL5	23	37913470	Missense_Mutation	SNP	C	TCGA-F7-7848-01A-11D-2129-08	1920202	37913470	117357090	356	76444											
KLF8	11279	broad.mit.edu	37	chrX	56310806	56310806	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttgctcgctcagatgAgctcactcgccatttccgca	9	11	8	13	3	2	2	2	1	0	1	5	3	3	2	2	0	2	4	2	0	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:56310806A>T	ENST00000468660.1	+	6	1247	c.959A>T	c.(958-960)gAg>gTg	p.E320V	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CGCTCAGATGAGCTCACTCGC	0.498													4	4					0	0	0	0	T	56310806	A	T	56310806	3	4	397	1	0	0	0	0	1	0	0	0	8404	304	11	5	981	5	KLF8	23	56310806	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	18397336	56310806	98959754	357	76445											
TEX11	56159	broad.mit.edu	37	chrX	70026595	70026595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatttattattcttctGggtttctactccaaagttgt	8	21	5	7	0	4	0	1	0	3	0	5	0	5	0	1	1	1	2	1	1	5	10			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70026595G>T	ENST00000395889.2	-	10	852	c.697C>A	c.(697-699)Cag>Aag	p.Q233K	TEX11_ENST00000374333.2_Missense_Mutation_p.Q218K|TEX11_ENST00000344304.3_Missense_Mutation_p.Q233K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	233							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTATTCTTCTGGGTTTCTACT	0.303													3	7					0.004672	0.00481067	1	0	T	70026595	G	T	70026595	3	4	397	1	0	0	0	0	1	0	0	0	15868	1357	47	4	2213	4	TEX11	23	70026595	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	13715789	70026595	85243965	358	76446											
MED12	9968	broad.mit.edu	37	chrX	70345277	70345277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagcgagatgatgcccGccatgccatcaagaaaatca	16	5	9	11	2	2	3	2	1	0	2	2	4	2	3	3	0	4	1	3	0	4	0			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70345277G>T	ENST00000333646.6	+	16	2502	c.2303G>T	c.(2302-2304)cGc>cTc	p.R768L	MED12_ENST00000374102.1_Missense_Mutation_p.R768L|MED12_ENST00000374080.3_Missense_Mutation_p.R768L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	768					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATGATGCCCGCCATGCCATC	0.532			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	10					2.0095e-06	2.22674e-06	1	0	T	70345277	G	T	70345277	3	4	397	1	0	0	0	0	1	0	0	0	9497	1087	38	3	2365	3	MED12	23	70345277	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	318682	70345277	84925283	359	76447											
MED12	9968	broad.mit.edu	37	chrX	70353025	70353025	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgattgcaaaccaaagcAgcttatgcatgaggcactca	15	8	9	9	0	1	3	1	2	0	1	1	3	1	3	1	1	5	5	1	1	3	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70353025A>G	ENST00000333646.6	+	33	4779	c.4580A>G	c.(4579-4581)cAg>cGg	p.Q1527R	MED12_ENST00000374102.1_Missense_Mutation_p.Q1527R|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.Q1527R	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1527					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AAACCAAAGCAGCTTATGCAT	0.463			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						23	13					0	0	0	0	G	70353025	A	G	70353025	3	3	397	1	0	0	0	0	1	0	0	0	9497	188	7	5	4710	5	MED12	23	70353025	Missense_Mutation	SNP	A	TCGA-F7-7848-01A-11D-2129-08	7748	70353025	84917535	360	76448											
MORF4L2	9643	broad.mit.edu	37	chrX	102931678	102931678	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagggggctgaggtgctTcgctggtactgccaccatct	5	10	14	12	2	1	1	0	1	1	0	3	2	2	1	3	4	3	4	3	4	1	2			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:102931678T>A	ENST00000423833.2	-	3	1503	c.278A>T	c.(277-279)gAa>gTa	p.E93V	MORF4L2_ENST00000451301.1_Missense_Mutation_p.E93V|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000441076.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E93V|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E93V			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	93					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTGAGGTGCTTCGCTGGTACT	0.542													47	39					0	0	0	0	A	102931678	T	A	102931678	3	1	397	1	0	0	0	0	1	0	0	0	9777	1783	62	5	592	5	MORF4L2	23	102931678	Missense_Mutation	SNP	T	TCGA-F7-7848-01A-11D-2129-08	32578653	102931678	52338882	361	76449											
NRK	203447	broad.mit.edu	37	chrX	105168850	105168850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggagatcaggaagaacatGcagccaatataggcagtgaa	16	7	12	6	0	1	3	1	1	0	2	1	5	1	4	1	3	3	2	1	3	6	3			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:105168850G>T	ENST00000428173.2	+	19	3445	c.3142G>T	c.(3142-3144)Gca>Tca	p.A1048S	NRK_ENST00000243300.9_Missense_Mutation_p.A1047S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1047							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGAACATGCAGCCAATAT	0.517										HNSCC(51;0.14)			15	16					3.27435e-08	3.83567e-08	1	0	T	105168850	G	T	105168850	3	4	397	1	0	0	0	0	1	0	0	0	10726	1319	46	4	3213	4	NRK	23	105168850	Missense_Mutation	SNP	G	TCGA-F7-7848-01A-11D-2129-08	2237172	105168850	50101710	362	76450											
CDR1	1038	broad.mit.edu	37	chrX	139865920	139865920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccggaaaaaatccaggtCttccagccaatatatgtctt	12	12	6	11	1	2	0	0	0	2	0	5	1	5	1	4	2	1	0	4	2	6	5			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:139865920C>T	ENST00000370532.2	-	1	803	c.612G>A	c.(610-612)aaG>aaA	p.K204K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	204	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAATCCAGGTCTTCCAGCCAA	0.448													78	58					0	0	0	0	T	139865920	C	T	139865920	2	4	397	1	0	0	0	0	0	0	0	1	3200	912	32	2		2	CDR1	23	139865920	Silent	SNP	C	TCGA-F7-7848-01A-11D-2129-08	34697070	139865920	15404640	363	76451											
UBXN11	91544	broad.mit.edu	37	chr1	26609384	26609384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcggccaaggtgggcgtCtccaccacaatctcctggat	8	8	11	14	2	3	0	1	0	2	0	5	1	3	1	4	4	1	0	4	4	2	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:26609384C>T	ENST00000314675.7	-	9	841	c.762G>A	c.(760-762)gaG>gaA	p.E254E	UBXN11_ENST00000374221.3_Silent_p.E374E|UBXN11_ENST00000374222.1_Silent_p.E374E|UBXN11_ENST00000374223.1_Silent_p.E131E|UBXN11_ENST00000374217.2_Silent_p.E341E|UBXN11_ENST00000357089.4_Silent_p.E341E	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	374	SEP.					cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AGGTGGGCGTCTCCACCACAA	0.647													17	61					0	0	0	0	T	26609384	C	T	26609384	2	4	398	1	0	0	0	0	0	0	0	1	17009	912	32	2		2	UBXN11	1	26609384	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08		26609384	222641237	1	76452											
RCC1	1104	broad.mit.edu	37	chr1	28858316	28858316	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcttcttcacccttcagtCtcacacaggtcccacagcac	9	11	4	17	0	5	0	3	0	3	0	7	0	6	0	2	1	1	1	2	1	1	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:28858316C>T	ENST00000373833.6	+	6	360	c.73_splice	c.e6-1	p.V25_splice	RCC1_ENST00000398958.2_Splice_Site_p.V25_splice|RCC1_ENST00000373832.1_Splice_Site_p.V25_splice|RCC1_ENST00000373831.3_Splice_Site_p.V56_splice			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	25					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTTCAGTCTCACACAGGT	0.587													13	48					0	0	0	0	T	28858316	C	T	28858316	5	4	398	1	0	0	0	0	0	0	1	0	13255	927	32	2	178	2	RCC1	1	28858316	Splice_Site	SNP	C	TCGA-F7-8489-01A-31D-2394-08	2248932	28858316	220392305	2	76453											
MUTYH	4595	broad.mit.edu	37	chr1	45797745	45797745	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccctgaggctaagagcTgttcctgctccacctgagag	7	9	12	13	0	0	3	0	2	0	2	3	4	3	3	4	2	2	5	4	2	1	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:45797745T>A	ENST00000450313.1	-	11	1162	c.947A>T	c.(946-948)cAg>cTg	p.Q316L	MUTYH_ENST00000448481.1_Missense_Mutation_p.Q299L|MUTYH_ENST00000372098.3_Missense_Mutation_p.Q313L|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.Q299L|MUTYH_ENST00000372104.1_Missense_Mutation_p.Q288L|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372115.3_Missense_Mutation_p.Q302L|MUTYH_ENST00000355498.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000354383.6_Missense_Mutation_p.Q289L|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000372110.3_Missense_Mutation_p.Q303L|MUTYH_ENST00000531105.1_Intron	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	313					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCTAAGAGCTGTTCCTGCTC	0.597			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				8	80					0	0	0	0	A	45797745	T	A	45797745	3	1	398	1	0	0	0	0	1	0	0	0	10063	1580	55	5	726	5	MUTYH	1	45797745	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	16939429	45797745	203452876	3	76454											
C1orf168	199920	broad.mit.edu	37	chr1	57254645	57254645	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccctgtgcatttccttaCcttccccctgagtcttggga	4	13	10	14	0	1	1	0	1	1	0	3	2	3	2	5	2	2	1	5	2	1	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:57254645C>A	ENST00000343433.6	-	3	1000		c.e3+1		C1orf168_ENST00000484327.1_Splice_Site	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CATTTCCTTACCTTCCCCCTG	0.597													7	111					0.000157383	0.00017161	1	0	A	57254645	C	A	57254645	5	1	398	1	0	0	0	0	0	0	1	0	2031	521	18	4	1338	4	C1orf168	1	57254645	Splice_Site	SNP	C	TCGA-F7-8489-01A-31D-2394-08	11456900	57254645	191995976	4	76455											
DOCK7	85440	broad.mit.edu	37	chr1	63113907	63113907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcaaagcatcaggaagtGaatttttcaagtcaaagata	18	9	9	5	0	3	2	3	1	0	1	3	4	3	3	0	1	2	2	0	1	7	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:63113907G>A	ENST00000251157.5	-	6	635	c.602C>T	c.(601-603)tCa>tTa	p.S201L	DOCK7_ENST00000340370.5_Missense_Mutation_p.S201L|DOCK7_ENST00000404627.2_Missense_Mutation_p.S201L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	201					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	p.S201L(1)		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						ATCAGGAAGTGAATTTTTCAA	0.393													7	73					0	0	0	0	A	63113907	G	A	63113907	3	1	398	1	0	0	0	0	1	0	0	0	4728	1294	45	2	5903	2	DOCK7	1	63113907	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	5859262	63113907	186136714	5	76456											
LRRC7	57554	broad.mit.edu	37	chr1	70504892	70504892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgttttcattttctcagCcatctgtgaatgaggatgct	10	16	8	7	0	3	2	2	2	2	0	4	3	3	3	1	1	2	2	1	1	2	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:70504892C>T	ENST00000310961.5	+	22	3704	c.3286C>T	c.(3286-3288)Cca>Tca	p.P1096S	LRRC7_ENST00000035383.5_Missense_Mutation_p.P1091S|LRRC7_ENST00000415775.2_Missense_Mutation_p.P375S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1091						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTTTCTCAGCCATCTGTGAA	0.537													8	110					0	0	0	0	T	70504892	C	T	70504892	3	4	398	1	0	0	0	0	1	0	0	0	9084	739	26	4	3345	4	LRRC7	1	70504892	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	7390985	70504892	178745729	6	76457											
ELTD1	64123	broad.mit.edu	37	chr1	79383343	79383343	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgattaggcatgctggtccTataaaactccaaataaagtt	15	12	7	7	0	0	1	0	1	0	0	2	1	2	1	2	2	2	3	2	2	7	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:79383343T>A	ENST00000370742.3	-	12	1788	c.1725A>T	c.(1723-1725)atA>atT	p.I575I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	575					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		ATGCTGGTCCTATAAAACTCC	0.294													3	23					0	0	0	0	A	79383343	T	A	79383343	2	1	398	1	0	0	0	0	0	0	0	1	5122	1512	53	5		5	ELTD1	1	79383343	Silent	SNP	T	TCGA-F7-8489-01A-31D-2394-08	8878451	79383343	169867278	7	76458											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112997128	112997128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaggatacggctgaaggaGatgatgtcacctacatgcta	13	8	11	9	1	1	3	1	2	0	1	1	5	1	4	1	3	3	2	1	3	4	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:112997128G>A	ENST00000271277.6	+	5	613	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	130						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTGAAGGAGATGATGTCAC	0.418													29	100					0	0	0	0	A	112997128	G	A	112997128	3	1	398	1	0	0	0	0	1	0	0	0	4078	942	33	2	398	2	CTTNBP2NL	1	112997128	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	33613785	112997128	136253493	8	76459											
IGSF3	3321	broad.mit.edu	37	chr1	117122188	117122188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggagagcctctggaagcGaagcctgccctcccaaggac	9	4	14	14	2	1	1	0	0	1	1	2	5	2	3	4	4	4	0	4	4	3	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:117122188G>A	ENST00000369486.3	-	10	3925	c.3160C>T	c.(3160-3162)Cgc>Tgc	p.R1054C	IGSF3_ENST00000369483.1_Missense_Mutation_p.R1074C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R1074C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1054	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCTGGAAGCGAAGCCTGCCC	0.647													11	49					0	0	0	0	A	117122188	G	A	117122188	3	1	398	1	0	0	0	0	1	0	0	0	7654	1058	37	1	432	1	IGSF3	1	117122188	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	4125060	117122188	132128433	9	76460											
GJA8	2703	broad.mit.edu	37	chr1	147380410	147380410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagaagcgcaaaagccgcGaggcggaggagctgggccag	12	1	19	9	4	0	1	0	0	0	1	0	5	0	3	2	5	3	2	2	5	3	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:147380410G>A	ENST00000240986.4	+	2	381	c.328G>A	c.(328-330)Gag>Aag	p.E110K	GJA8_ENST00000369235.1_Missense_Mutation_p.E110K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	110				EA -> D (in Ref. 1; AAA77062).	cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAAAAGCCGCGAGGCGGAGGA	0.652													16	65					0	0	0	0	A	147380410	G	A	147380410	3	1	398	1	0	0	0	0	1	0	0	0	6456	1059	37	1	330	1	GJA8	1	147380410	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	30258222	147380410	101870211	10	76461											
TNN	63923	broad.mit.edu	37	chr1	175097823	175097823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaccatctacctgcatggcGatgccagccggcccctgcag	8	6	10	17	2	1	0	0	0	1	0	1	1	1	0	6	2	5	2	6	2	1	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:175097823G>A	ENST00000239462.4	+	15	3384	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1091	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGCATGGCGATGCCAGCCG	0.602													9	83					0	0	0	0	A	175097823	G	A	175097823	3	1	398	1	0	0	0	0	1	0	0	0	16417	1058	37	1	3325	1	TNN	1	175097823	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	27717413	175097823	74152798	11	76462											
C4BPA	722	broad.mit.edu	37	chr1	207297268	207297268	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgatctatcttattcagaTttttcttaattggctcaacc	9	20	4	8	0	5	2	2	1	3	1	5	2	5	2	1	1	1	1	1	1	4	8			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:207297268T>C	ENST00000367070.3	+	5	624	c.428_splice	c.e5-1	p.F144_splice		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	144	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTTATTCAGATTTTTCTTAAT	0.338													4	15					0	0	0	0	C	207297268	T	C	207297268	5	2	398	1	0	0	0	0	0	0	1	0	2270	1507	52	5	444	5	C4BPA	1	207297268	Splice_Site	SNP	T	TCGA-F7-8489-01A-31D-2394-08	32199445	207297268	41953353	12	76463											
SIPA1L2	57568	broad.mit.edu	37	chr1	232561533	232561533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagcgacctccttggagAcaggttcccatagaacgaaa	14	7	10	10	2	0	2	0	0	0	2	2	5	2	2	3	2	2	2	3	2	5	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:232561533A>G	ENST00000366630.1	-	17	4790	c.4432T>C	c.(4432-4434)Tct>Cct	p.S1478P	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1478P|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S552P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1478					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCCTTGGAGACAGGTTCCCA	0.527													4	21					0	0	0	0	G	232561533	A	G	232561533	3	3	398	1	0	0	0	0	1	0	0	0	14418	275	10	5	760	5	SIPA1L2	1	232561533	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	25264265	232561533	16689088	13	76464											
RGS7	6000	broad.mit.edu	37	chr1	241099995	241099995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccattaatgttcccaaatGgagcgcctccactgttttat	10	13	7	11	1	0	0	0	0	0	0	2	1	2	1	4	1	2	2	4	1	3	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:241099995G>T	ENST00000366565.1	-	5	619	c.238C>A	c.(238-240)Cat>Aat	p.H80N	RGS7_ENST00000407727.1_Missense_Mutation_p.H80N|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366563.1_Missense_Mutation_p.H80N|RGS7_ENST00000366562.4_Missense_Mutation_p.H80N|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Missense_Mutation_p.H54N|RGS7_ENST00000366564.1_Missense_Mutation_p.H80N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	80	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTCCCAAATGGAGCGCCTCC	0.388													8	65					0.00307968	0.00328386	1	0	T	241099995	G	T	241099995	3	4	398	1	0	0	0	0	1	0	0	0	13393	1348	47	4	1281	4	RGS7	1	241099995	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	8538462	241099995	8150626	14	76465											
YWHAQ	10971	broad.mit.edu	37	chr2	9725446	9725446	+	Missense_Mutation	SNP	T	T	A																															ccccttctgccgcatcacatTcttctcctgcactgtctgat																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:9725446T>A	ENST00000381844.4	-	5	870	c.707A>T	c.(706-708)gAa>gTa	p.E236V	YWHAQ_ENST00000238081.3_Missense_Mutation_p.E236V|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	236					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CGCATCACATTCTTCTCCTGC	0.368													5	64					0	0	0	0	A	9725446	T	A	9725446	3	1	398	1	0	0	0	0	1	0	0	0	17601	1783	62	5	34	5	YWHAQ	2	9725446	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08		9725446	233473927	15	76466	1024	2									
YWHAQ	10971	broad.mit.edu	37	chr2	9725447	9725447	+	Nonsense_Mutation	SNP	C	C	A																															cccttctgccgcatcacattCttctcctgcactgtctgatg																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:9725447C>A	ENST00000381844.4	-	5	869	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	YWHAQ_ENST00000238081.3_Nonsense_Mutation_p.E236*|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	236					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GCATCACATTCTTCTCCTGCA	0.368													5	64					0.014758	0.0152315	1	0	A	9725447	C	A	9725447	4	1	398	1	0	0	0	0	0	1	0	0	17601	922	32	2	35	2	YWHAQ	2	9725447	Nonsense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	1	9725447	233473926	16	76467	1024	2									
FANCL	55120	broad.mit.edu	37	chr2	58392999	58392999	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaactgactataaatgcttAttaaggagctctgtgaaaaa	18	11	7	5	0	1	2	0	2	1	0	1	3	1	3	0	1	3	2	0	1	9	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:58392999A>G	ENST00000402135.3	-	8	602	c.566T>C	c.(565-567)aTa>aCa	p.I189T	FANCL_ENST00000233741.4_Missense_Mutation_p.I184T|FANCL_ENST00000540646.1_3'UTR|FANCL_ENST00000403295.3_Missense_Mutation_p.I184T|FANCL_ENST00000403676.1_Missense_Mutation_p.I67T	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	184					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						ATAAATGCTTATTAAGGAGCT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	73					0	0	0	0	G	58392999	A	G	58392999	3	3	398	1	0	0	0	0	1	0	0	0	5715	449	16	5	604	5	FANCL	2	58392999	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	48667552	58392999	184806374	17	76468											
RGPD4	285190	broad.mit.edu	37	chr2	108455272	108455272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttctgatattagcgttCagtggaattaaacccaacac	12	14	6	9	1	3	1	1	1	2	0	3	2	3	2	1	1	3	1	1	1	6	6			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:108455272C>T	ENST00000408999.3	+	4	334	c.257C>T	c.(256-258)tCa>tTa	p.S86L	RGPD4_ENST00000354986.4_Missense_Mutation_p.S86L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	86					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TATTAGCGTTCAGTGGAATTA	0.279													14	31					0	0	0	0	T	108455272	C	T	108455272	3	4	398	1	0	0	0	0	1	0	0	0	13370	838	29	2	271	2	RGPD4	2	108455272	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	50062273	108455272	134744101	18	76469											
FAM168B	130074	broad.mit.edu	37	chr2	131812999	131812999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaggtgctgcatacagCggctgtgtgtagtacgtgcc	7	10	16	8	2	0	1	0	1	0	0	0	2	0	2	1	3	6	5	1	3	3	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:131812999C>T	ENST00000409185.1	-	5	428	c.321G>A	c.(319-321)ccG>ccA	p.P107P	FAM168B_ENST00000389915.3_Silent_p.P107P	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	107										endometrium(3)|lung(2)	5						CTGCATACAGCGGCTGTGTGT	0.612													13	125					0	0	0	0	T	131812999	C	T	131812999	2	4	398	1	0	0	0	0	0	0	0	1	5527	755	27	1		1	FAM168B	2	131812999	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	23357727	131812999	111386374	19	76470											
PIKFYVE	200576	broad.mit.edu	37	chr2	209195278	209195278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtccaagcatgttctgtGatacccccatggtacatcat	10	12	8	11	0	2	1	1	1	1	0	3	1	3	1	3	1	3	3	3	1	3	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:209195278G>C	ENST00000264380.4	+	23	3981	c.3823G>C	c.(3823-3825)Gat>Cat	p.D1275H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1275					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CATGTTCTGTGATACCCCCAT	0.448													21	273					0	0	0	0	C	209195278	G	C	209195278	3	2	398	1	0	0	0	0	1	0	0	0	11996	1290	45	2	3920	2	PIKFYVE	2	209195278	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	77382279	209195278	34004095	20	76471											
CPS1	1373	broad.mit.edu	37	chr2	211471660	211471660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctctggcctcaaaagcCactgggtaagaccagaataa	13	8	9	11	0	3	2	1	0	2	2	3	2	3	2	3	2	2	2	3	2	5	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:211471660C>T	ENST00000233072.5	+	18	2383	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	CPS1_ENST00000430249.2_Silent_p.A735A|CPS1_ENST00000451903.2_Silent_p.A278A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	729	ATP-grasp 1.			A -> T (in Ref. 1; BAA14328).	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			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)		CCTCAAAAGCCACTGGGTAAG	0.418													4	51					0	0	0	0	T	211471660	C	T	211471660	2	4	398	1	0	0	0	0	0	0	0	1	3853	581	21	4		4	CPS1	2	211471660	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	2276382	211471660	31727713	21	76472											
PSMD1	5707	broad.mit.edu	37	chr2	231943413	231943413	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcatactgcaaccgttaTagcaaactcttttatgcact	12	14	5	10	1	2	0	1	0	1	0	2	0	2	0	1	0	6	4	1	0	6	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:231943413T>C	ENST00000308696.6	+	10	1274	c.1112T>C	c.(1111-1113)aTa>aCa	p.I371T	PSMD1_ENST00000373635.4_Missense_Mutation_p.I371T|PSMD1_ENST00000409643.1_Missense_Mutation_p.I371T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	371					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAACCGTTATAGCAAACTCT	0.358													14	69					0	0	0	0	C	231943413	T	C	231943413	3	2	398	1	0	0	0	0	1	0	0	0	12771	1406	49	5	1150	5	PSMD1	2	231943413	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	20471753	231943413	11255960	22	76473											
PRRT3	285368	broad.mit.edu	37	chr3	9991651	9991651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggggctctgagcccacaGagcccttggggtgggctcca	5	7	15	14	0	1	2	0	1	1	1	2	2	2	2	4	5	2	2	4	5	0	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:9991651G>A	ENST00000412055.1	-	2	278	c.149C>T	c.(148-150)tCt>tTt	p.S50F	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.S50F	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	50						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGAGCCCACAGAGCCCTTGGG	0.627													5	64					0	0	0	0	A	9991651	G	A	9991651	3	1	398	1	0	0	0	0	1	0	0	0	12690	942	33	2	2808	2	PRRT3	3	9991651	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08		9991651	188030779	23	76474											
TGFBR2	7048	broad.mit.edu	37	chr3	30713505	30713505	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgagacagtggcagtcaAgatctttccctatgaggagt	10	12	12	7	0	2	3	1	2	1	2	3	5	3	4	1	2	0	2	1	2	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:30713505A>T	ENST00000295754.5	+	4	1212	c.830A>T	c.(829-831)aAg>aTg	p.K277M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K302M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	277	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTGGCAGTCAAGATCTTTCCC	0.488													11	100					0	0	0	0	T	30713505	A	T	30713505	3	4	398	1	0	0	0	0	1	0	0	0	15916	72	3	5	923	5	TGFBR2	3	30713505	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	20721854	30713505	167308925	24	76475											
SCN10A	6336	broad.mit.edu	37	chr3	38753872	38753872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagatgagccagaagAtgaggcagacgaggaggaca	15	4	16	6	1	0	7	0	3	0	4	0	10	0	9	1	3	2	2	1	3	2	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:38753872A>G	ENST00000449082.2	-	22	3868	c.3869T>C	c.(3868-3870)aTc>aCc	p.I1290T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1290					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGCCAGAAGATGAGGCAGAC	0.527													15	89					0	0	0	0	G	38753872	A	G	38753872	3	3	398	1	0	0	0	0	1	0	0	0	13999	333	12	5	2025	5	SCN10A	3	38753872	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	8040367	38753872	159268558	25	76476											
CEP97	79598	broad.mit.edu	37	chr3	101476833	101476833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttatgggctgcaaatgaGaattctgttcaaatgatgag	12	13	10	6	0	2	3	1	3	1	1	2	4	2	3	1	1	1	3	1	1	4	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:101476833G>A	ENST00000341893.3	+	9	2135	c.1383G>A	c.(1381-1383)gaG>gaA	p.E461E	CEP97_ENST00000327230.4_Silent_p.E461E|CEP97_ENST00000494050.1_Silent_p.E402E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	461	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGCAAATGAGAATTCTGTTC	0.423													8	47					0	0	0	0	A	101476833	G	A	101476833	2	1	398	1	0	0	0	0	0	0	0	1	3292	933	33	2		2	CEP97	3	101476833	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	62722961	101476833	96545597	26	76477											
ALCAM	214	broad.mit.edu	37	chr3	105290756	105290756	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaaacaaaaagttagaAgaaaacaatcacaaaactga	26	4	6	5	0	1	4	1	1	0	3	1	5	1	4	0	0	3	1	0	0	12	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:105290756A>C	ENST00000306107.5	+	15	2225	c.1725A>C	c.(1723-1725)gaA>gaC	p.E575D	ALCAM_ENST00000472644.2_Missense_Mutation_p.E562D|ALCAM_ENST00000486979.2_Missense_Mutation_p.E524D|ALCAM_ENST00000389927.4_Missense_Mutation_p.E297D	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	575					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAAGTTAGAAGAAAACAATC	0.358													6	18					0	0	0	0	C	105290756	A	C	105290756	3	2	398	1	0	0	0	0	1	0	0	0	487	69	3	5	1783	5	ALCAM	3	105290756	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	3813923	105290756	92731674	27	76478											
DZIP3	9666	broad.mit.edu	37	chr3	108373044	108373044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagaacaagcaaatccaCactcagtcagtagacttata	18	7	7	9	0	2	2	2	0	0	2	3	3	3	3	1	1	2	2	1	1	7	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:108373044C>T	ENST00000361582.3	+	19	2316	c.2086C>T	c.(2086-2088)Cac>Tac	p.H696Y	DZIP3_ENST00000463306.1_Missense_Mutation_p.H696Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	696					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGCAAATCCACACTCAGTCAG	0.378													14	91					0	0	0	0	T	108373044	C	T	108373044	3	4	398	1	0	0	0	0	1	0	0	0	4901	478	17	4	2156	4	DZIP3	3	108373044	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	3082288	108373044	89649386	28	76479											
ADCY5	111	broad.mit.edu	37	chr3	123047530	123047530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtggttggctagcgtgAcatcgttagaccagacgtcg	8	10	13	10	4	0	3	0	1	0	2	2	3	0	3	2	2	1	3	2	2	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:123047530A>G	ENST00000462833.1	-	6	2978	c.1766T>C	c.(1765-1767)gTc>gCc	p.V589A	ADCY5_ENST00000491190.1_Missense_Mutation_p.V222A|ADCY5_ENST00000309879.5_Missense_Mutation_p.V239A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	589	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCTAGCGTGACATCGTTAGA	0.617											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	133					0	0	0	0	G	123047530	A	G	123047530	3	3	398	1	0	0	0	0	1	0	0	0	297	275	10	5	2083	5	ADCY5	3	123047530	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	14674486	123047530	74974900	29	76480											
TRIM42	287015	broad.mit.edu	37	chr3	140401726	140401726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgctgcatcacctgccGcctcaacctgtgcaacgact	9	7	8	17	3	2	0	2	0	0	0	2	1	2	0	4	0	6	3	4	0	3	0	rs146006015		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:140401726G>A	ENST00000286349.3	+	2	955	c.764G>A	c.(763-765)cGc>cAc	p.R255H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	255						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCACCTGCCGCCTCAACCTG	0.617													9	71					0	0	0	0	A	140401726	G	A	140401726	3	1	398	1	0	0	0	0	1	0	0	0	16612	1087	38	1	770	1	TRIM42	3	140401726	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	17354196	140401726	57620704	30	76481											
FAM194A	131831	broad.mit.edu	37	chr3	150416662	150416662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagacaaattgcgatGaatatttctgaaatttcgac	13	13	8	7	2	1	3	0	2	1	1	3	6	2	3	1	1	1	0	1	1	4	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:150416662G>T	ENST00000295910.6	-	3	521	c.469C>A	c.(469-471)Cat>Aat	p.H157N	FAM194A_ENST00000491361.1_Missense_Mutation_p.H11N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	157										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AAATTGCGATGAATATTTCTG	0.318													12	105					1.08611e-07	1.24035e-07	1	0	T	150416662	G	T	150416662	3	4	398	1	0	0	0	0	1	0	0	0	5569	1290	45	2	1570	2	FAM194A	3	150416662	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	10014936	150416662	47605768	31	76482											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			24	71					0	0	0	0	G	178952085	A	G	178952085	3	3	398	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	28535423	178952085	19070345	32	76483											
PEX5L	51555	broad.mit.edu	37	chr3	179526100	179526100	+	Missense_Mutation	SNP	G	G	A																															cagcgttaaatgcatctattGctctattaaattctccactc																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:179526100G>A	ENST00000467460.1	-	13	1808	c.1478C>T	c.(1477-1479)gCa>gTa	p.A493V	PEX5L_ENST00000485199.1_Missense_Mutation_p.A458V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A469V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	493					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCATCTATTGCTCTATTAAA	0.453													5	55					0	0	0	0	A	179526100	G	A	179526100	3	1	398	1	0	0	0	0	1	0	0	0	11821	1319	46	4	414	4	PEX5L	3	179526100	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	574015	179526100	18496330	33	76484	1025	2									
PEX5L	51555	broad.mit.edu	37	chr3	179526101	179526101	+	Missense_Mutation	SNP	C	C	A																															agcgttaaatgcatctattgCtctattaaattctccactca																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:179526101C>A	ENST00000467460.1	-	13	1807	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	PEX5L_ENST00000485199.1_Missense_Mutation_p.A458S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A469S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434S|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	493					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCATCTATTGCTCTATTAAAT	0.453													5	58					0.184627	0.185589	1	0	A	179526101	C	A	179526101	3	1	398	1	0	0	0	0	1	0	0	0	11821	797	28	4	415	4	PEX5L	3	179526101	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	1	179526101	18496329	34	76485	1025	2									
ETV5	2119	broad.mit.edu	37	chr3	185823132	185823132	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacaaactgttcatcaTcaggaacttgtgctggaaaa	13	10	10	8	0	3	0	3	0	0	0	3	3	3	3	0	3	3	2	0	3	4	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:185823132T>A	ENST00000306376.5	-	5	440	c.194A>T	c.(193-195)gAt>gTt	p.D65V	ETV5_ENST00000537818.1_Missense_Mutation_p.D107V|ETV5_ENST00000434744.1_Missense_Mutation_p.D65V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	65					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTGTTCATCATCAGGAACTTG	0.328			T	"TMPRSS2, SCL45A3"	Prostate								21	61					0	0	0	0	A	185823132	T	A	185823132	3	1	398	1	0	0	0	0	1	0	0	0	5320	1435	50	5	1374	5	ETV5	3	185823132	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	6297031	185823132	12199298	35	76486											
ATP13A5	344905	broad.mit.edu	37	chr3	193082032	193082032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggatgcgacaaggcagaagGctttccgtacattgtggtcc	9	9	13	10	3	0	1	0	0	0	1	2	3	2	2	2	4	2	3	2	4	3	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:193082032G>A	ENST00000342358.4	-	2	218	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	34					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCAGAAGGCTTTCCGTAC	0.483													12	252					0	0	0	0	A	193082032	G	A	193082032	3	1	398	1	0	0	0	0	1	0	0	0	1131	1203	42	4	3669	4	ATP13A5	3	193082032	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	7258900	193082032	4940398	36	76487											
MSX1	4487	broad.mit.edu	37	chr4	4864658	4864658	+	Frame_Shift_Del	DEL	G	G	-																															caaagagactacaagaggcaGagctggagaagctgaagatg																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:4864658delG	ENST00000382723.4	+	2	934	c.700delG	c.(700-702)agfs	p.E234fs	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	228					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACAAGAGGCAGAGCTGGAGAA	0.657													8	58	---	---	---	---					-	4864658	G	-	4864658	7	5	398	1	0	1	0	1	0	0	0	0	9965	943	33	0	706	0	MSX1	4	4864658	Frame_Shift_Del	DEL	G	TCGA-F7-8489-01A-31D-2394-08		4864658	186289618	37	76488											
GRXCR1	389207	broad.mit.edu	37	chr4	42965095	42965095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttagacgaacgatgccgaCgagtttctgaagctccttcc	10	10	10	11	4	1	2	0	1	1	1	3	6	3	2	3	0	3	3	3	0	3	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:42965095C>G	ENST00000399770.2	+	2	571	c.571C>G	c.(571-573)Cga>Gga	p.R191G		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	191	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ACGATGCCGACGAGTTTCTGA	0.428													45	387					0	0	0	0	G	42965095	C	G	42965095	3	3	398	1	0	0	0	0	1	0	0	0	6862	528	19	3	577	3	GRXCR1	4	42965095	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	38100437	42965095	148189181	38	76489											
GABRG1	2565	broad.mit.edu	37	chr4	46099269	46099269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttgaagcaatgaattcaGaatttgtgtgatatctcctt	11	15	8	7	0	2	4	1	3	1	1	3	4	2	4	2	0	1	1	2	0	5	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:46099269G>C	ENST00000295452.4	-	2	369	c.202C>G	c.(202-204)Ctg>Gtg	p.L68V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	68					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AATGAATTCAGAATTTGTGTG	0.378													20	74					0	0	0	0	C	46099269	G	C	46099269	3	2	398	1	0	0	0	0	1	0	0	0	6219	933	33	2	1227	2	GABRG1	4	46099269	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	3134174	46099269	145055007	39	76490											
SLC4A4	8671	broad.mit.edu	37	chr4	72316247	72316247	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcctaagagtcttccaTcctctgacaaaaggtaaatt	13	11	6	11	0	2	2	0	1	2	1	5	2	5	2	4	1	1	1	4	1	5	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:72316247T>G	ENST00000340595.3	+	7	1259	c.1063T>G	c.(1063-1065)Tcc>Gcc	p.S355A	SLC4A4_ENST00000351898.6_Missense_Mutation_p.S399A|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S399A|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S399A|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S355A|SLC4A4_ENST00000514331.1_3'UTR	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	399						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGTCTTCCATCCTCTGACAA	0.418													3	24					0	0	0	0	G	72316247	T	G	72316247	3	3	398	1	0	0	0	0	1	0	0	0	14744	1435	50	5	1350	5	SLC4A4	4	72316247	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	26216978	72316247	118838029	40	76491											
PDHA2	5161	broad.mit.edu	37	chr4	96762006	96762006	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctactgagagagcagcAgccagccctgattactacaa	14	7	8	12	0	1	3	0	2	1	1	1	4	1	3	2	0	7	2	2	0	4	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:96762006A>T	ENST00000295266.4	+	1	768	c.705A>T	c.(703-705)gcA>gcT	p.A235A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	235					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGAGAGCAGCAGCCAGCCCTG	0.433													8	81					0	0	0	0	T	96762006	A	T	96762006	2	4	398	1	0	0	0	0	0	0	0	1	11736	175	7	5		5	PDHA2	4	96762006	Silent	SNP	A	TCGA-F7-8489-01A-31D-2394-08	24445759	96762006	94392270	41	76492											
ADH7	131	broad.mit.edu	37	chr4	100341898	100341898	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttacagcccatgatgactGacaggccaactcctcccagg	11	7	8	15	0	0	3	0	3	0	0	2	3	2	3	4	2	3	0	4	2	2	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:100341898G>C	ENST00000437033.2	-	6	1120	c.617C>G	c.(616-618)tCa>tGa	p.S206*	ADH7_ENST00000209665.4_Nonsense_Mutation_p.S218*|ADH7_ENST00000482593.1_Nonsense_Mutation_p.S149*|ADH7_ENST00000476959.1_Nonsense_Mutation_p.S226*			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	218					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CATGATGACTGACAGGCCAAC	0.493													7	77					0	0	0	0	C	100341898	G	C	100341898	4	2	398	1	0	0	0	0	0	1	0	0	313	1294	45	2	523	2	ADH7	4	100341898	Nonsense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	3579892	100341898	90812378	42	76493											
ENPEP	2028	broad.mit.edu	37	chr4	111397683	111397683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatagtgggacttgccgtggGcttgaccagatcgtgtgact	8	11	14	8	2	0	3	0	2	0	1	1	4	0	4	2	2	1	1	2	2	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:111397683G>T	ENST00000265162.5	+	1	455	c.113G>T	c.(112-114)gGc>gTc	p.G38V		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	38					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTGCCGTGGGCTTGACCAGA	0.602													14	145					2.32078e-09	2.71461e-09	1	0	T	111397683	G	T	111397683	3	4	398	1	0	0	0	0	1	0	0	0	5166	1203	42	4	115	4	ENPEP	4	111397683	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	11055785	111397683	79756593	43	76494											
TBC1D9	23158	broad.mit.edu	37	chr4	141555229	141555229	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagagaagagcaaacatTcccttgaactgctcgaagtc	15	7	10	9	1	0	3	0	1	0	2	3	6	1	4	1	1	4	2	1	1	5	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:141555229T>C	ENST00000442267.2	-	16	2693	c.2619A>G	c.(2617-2619)ggA>ggG	p.G873G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	873						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GAGCAAACATTCCCTTGAACT	0.532													5	51					0	0	0	0	C	141555229	T	C	141555229	2	2	398	1	0	0	0	0	0	0	0	1	15721	1770	62	5		5	TBC1D9	4	141555229	Silent	SNP	T	TCGA-F7-8489-01A-31D-2394-08	30157546	141555229	49599047	44	76495											
FAT1	2195	broad.mit.edu	37	chr4	187542091	187542092	+	Frame_Shift_Ins	INS	-	-	A																															acaaaagagatgcttcatatINSaatggcttggcaaacacagg																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:187542091_187542092insA	ENST00000441802.2	-	10	5857_5858	c.5648_5649insT	c.(5647-5649)ttafs	p.L1883fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1883	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGCTTCATATAATGGCTTGGC	0.396										HNSCC(5;0.00058)			7	60	---	---	---	---					A	187542092	-	A	187542091	7	5	398	1	0	1	1	0	0	0	0	0	5734	1403	49	0	8189	0	FAT1	4	187542091	Frame_Shift_Ins	INS	-	TCGA-F7-8489-01A-31D-2394-08	45986862	187542091	3612185	45	76496											
MAST4	375449	broad.mit.edu	37	chr5	66458515	66458515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtttctcctgcttgaacaGatccctgtcatcgggtgaga	9	12	10	10	1	2	3	1	2	1	2	5	4	3	3	2	1	2	2	2	1	2	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:66458515G>A	ENST00000404260.3	+	28	4183	c.3875G>A	c.(3874-3876)aGa>aAa	p.R1292K	MAST4_ENST00000405643.1_Missense_Mutation_p.R1110K|MAST4_ENST00000403625.2_Missense_Mutation_p.R1289K|MAST4_ENST00000261569.7_Missense_Mutation_p.R1095K|MAST4_ENST00000403666.1_Missense_Mutation_p.R1100K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1292	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGCTTGAACAGATCCCTGTCA	0.522													11	68					0	0	0	0	A	66458515	G	A	66458515	3	1	398	1	0	0	0	0	1	0	0	0	9396	942	33	2	4106	2	MAST4	5	66458515	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08		66458515	114456745	46	76497											
RAD17	5884	broad.mit.edu	37	chr5	68669856	68669856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttatggtttagaaaattCaaaagaatatctgtctgaaa	17	14	7	3	0	3	3	1	1	2	2	3	4	3	3	0	1	0	1	0	1	9	6			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:68669856C>T	ENST00000509734.1	+	4	920	c.242C>T	c.(241-243)tCa>tTa	p.S81L	RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.S70L|RAD17_ENST00000345306.6_Missense_Mutation_p.S70L|RAD17_ENST00000380774.3_Missense_Mutation_p.S81L|RAD17_ENST00000361732.2_Missense_Mutation_p.S70L|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000354312.3_Missense_Mutation_p.S70L|RAD17_ENST00000305138.4_Missense_Mutation_p.S70L|RAD17_ENST00000282891.6_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	81					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTAGAAAATTCAAAAGAATAT	0.328								Other conserved DNA damage response genes					5	51					0	0	0	0	T	68669856	C	T	68669856	3	4	398	1	0	0	0	0	1	0	0	0	13061	838	29	2	261	2	RAD17	5	68669856	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	2211341	68669856	112245404	47	76498											
VCAN	1462	broad.mit.edu	37	chr5	82843857	82843857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgatggttttaacacattCaggtgcctctgccttccaag	8	14	9	10	0	2	1	1	1	1	0	3	1	3	1	3	2	3	2	3	2	2	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:82843857C>T	ENST00000265077.3	+	10	10012	c.9447C>T	c.(9445-9447)ttC>ttT	p.F3149F	VCAN_ENST00000512590.2_Silent_p.F1347F|VCAN_ENST00000343200.5_Silent_p.F2162F|VCAN_ENST00000342785.4_Silent_p.F1395F|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Silent_p.F408F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3149	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTAACACATTCAGGTGCCTCT	0.358													8	56					0	0	0	0	T	82843857	C	T	82843857	2	4	398	1	0	0	0	0	0	0	0	1	17234	825	29	2		2	VCAN	5	82843857	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	14174001	82843857	98071403	48	76499											
PCDHA4	56144	broad.mit.edu	37	chr5	140187979	140187979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgtccaccttcaagAattactactcgttggtgctg	8	13	10	10	1	1	1	1	0	0	1	3	1	2	1	2	2	4	3	2	2	4	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140187979A>T	ENST00000530339.1	+	1	1207	c.1207A>T	c.(1207-1209)Aat>Tat	p.N403Y	PCDHA4_ENST00000356878.4_Missense_Mutation_p.N403Y|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.N403Y|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTTCAAGAATTACTACTC	0.612													48	210					0	0	0	0	T	140187979	A	T	140187979	3	4	398	1	0	0	0	0	1	0	0	0	11597	246	9	5	1209	5	PCDHA4	5	140187979	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	57344122	140187979	40727281	49	76500											
PCDHA12	56137	broad.mit.edu	37	chr5	140256720	140256720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgacgctgcaggtgttcGtgctggacgagaacgacaac	10	7	14	10	5	0	2	0	1	0	1	1	5	0	3	0	2	4	4	0	2	2	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140256720G>A	ENST00000398631.2	+	1	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.701													12	177					0	0	0	0	A	140256720	G	A	140256720	3	1	398	1	0	0	0	0	1	0	0	0	11593	1145	40	1	1665	1	PCDHA12	5	140256720	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	68741	140256720	40658540	50	76501											
PCDHB3	56132	broad.mit.edu	37	chr5	140481867	140481867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctttgagcagcgaggCgctggtgcgcgtgctggtgc	3	8	18	12	5	0	1	0	1	0	0	0	2	0	1	1	4	5	4	1	4	0	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140481867C>T	ENST00000231130.2	+	1	1634	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		545	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGCGAGGCGCTGGTGCGC	0.697													14	105					0	0	0	0	T	140481867	C	T	140481867	3	4	398	1	0	0	0	0	1	0	0	0	11614	768	27	1	1636	1	PCDHB3	5	140481867	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	225147	140481867	40433393	51	76502											
PCDHB12	56124	broad.mit.edu	37	chr5	140589637	140589637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatggtttgttctatcccGgaggacatcccattcgtgct	8	13	10	10	2	1	1	0	0	1	1	4	3	3	3	2	3	1	3	2	3	2	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140589637G>A	ENST00000239450.2	+	1	1347	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	PCDHB12_ENST00000541609.1_Silent_p.P49P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		386	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			GTTCTATCCCGGAGGACATCC	0.468													16	59					0	0	0	0	A	140589637	G	A	140589637	2	1	398	1	0	0	0	0	0	0	0	1	11608	1103	39	1		1	PCDHB12	5	140589637	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	107770	140589637	40325623	52	76503											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764776	140764776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggaagagtcacctgatcttCccccagcccaactatgtaga	11	8	8	14	1	2	3	1	1	1	2	3	4	3	4	4	1	2	1	4	1	4	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140764776C>G	ENST00000518325.1	+	1	2310	c.2310C>G	c.(2308-2310)ttC>ttG	p.F770L	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATCTTCCCCCAGCCCA	0.512													12	198					0	0	0	0	G	140764776	C	G	140764776	3	3	398	1	0	0	0	0	1	0	0	0	11630	854	30	2	2312	2	PCDHGA7	5	140764776	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	175139	140764776	40150484	53	76504											
SH3RF2	153769	broad.mit.edu	37	chr5	145439539	145439539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagttccaattctaccagCcacaggggatcccctcctcc	9	8	7	17	0	1	0	0	0	1	0	5	1	5	1	7	2	3	2	7	2	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:145439539C>G	ENST00000511217.1	+	8	1718	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P556A|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	556							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCTACCAGCCACAGGGGAT	0.672													8	104					0	0	0	0	G	145439539	C	G	145439539	3	3	398	1	0	0	0	0	1	0	0	0	14347	739	26	4	1696	4	SH3RF2	5	145439539	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	4674763	145439539	35475721	54	76505											
TNIP1	10318	broad.mit.edu	37	chr5	150422486	150422486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactgctgcttcatggaccGgaaatgctggtcccactgct	8	11	10	12	1	1	0	1	0	0	0	2	2	2	2	2	3	5	4	2	3	2	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:150422486G>A	ENST00000389378.2	-	10	1561	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	325	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGGACCGGAAATGCTGG	0.552													62	284					0	0	0	0	A	150422486	G	A	150422486	3	1	398	1	0	0	0	0	1	0	0	0	16408	1115	39	1	973	1	TNIP1	5	150422486	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	4982947	150422486	30492774	55	76506											
C6orf62	81688	broad.mit.edu	37	chr6	24716392	24716392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacccttctcatagactgaTatcgaggagcatggagctgt	10	12	10	9	1	1	2	1	1	1	1	3	5	1	4	1	2	3	2	1	2	3	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:24716392T>C	ENST00000378119.4	-	2	2457	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	C6orf62_ENST00000378102.3_Missense_Mutation_p.Y68C|C6orf62_ENST00000540769.1_Missense_Mutation_p.Y39C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	97						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CATAGACTGATATCGAGGAGC	0.453													14	66					0	0	0	0	C	24716392	T	C	24716392	3	2	398	1	0	0	0	0	1	0	0	0	2390	1406	49	5	415	5	C6orf62	6	24716392	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08		24716392	146398675	56	76507											
BTN3A1	11119	broad.mit.edu	37	chr6	26413558	26413558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagagcttcatatcagggAgacattactgggaggtggag	11	9	16	5	0	2	2	2	1	0	2	2	6	2	4	0	4	2	1	0	4	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:26413558A>G	ENST00000289361.6	+	10	1548	c.1180A>G	c.(1180-1182)Aga>Gga	p.R394G	BTN3A1_ENST00000414912.2_Missense_Mutation_p.R342G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	394	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CATATCAGGGAGACATTACTG	0.507													7	118					0	0	0	0	G	26413558	A	G	26413558	3	3	398	1	0	0	0	0	1	0	0	0	1571	296	11	5	1382	5	BTN3A1	6	26413558	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	1697166	26413558	144701509	57	76508											
POLH	5429	broad.mit.edu	37	chr6	43581625	43581625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaaagctgcagaaaggcaGaaagttaaagaagcttcgct	18	6	10	7	1	0	3	0	0	0	3	1	3	0	3	0	1	3	6	0	1	7	2	rs142864589	byFrequency	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:43581625G>C	ENST00000372236.4	+	11	1768	c.1473G>C	c.(1471-1473)caG>caC	p.Q491H	POLH_ENST00000535400.1_Missense_Mutation_p.Q429H|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	491					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CAGAAAGGCAGAAAGTTAAAG	0.483								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				20	83					0	0	0	0	C	43581625	G	C	43581625	3	2	398	1	0	0	0	0	1	0	0	0	12274	933	33	2	1511	2	POLH	6	43581625	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	17168067	43581625	127533442	58	76509											
DST	667	broad.mit.edu	37	chr6	56483632	56483632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacagaaccatctttctgtGggtcatctgctcctctatgg	9	13	8	11	0	5	1	1	0	4	1	6	1	6	1	2	2	3	1	2	2	3	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:56483632G>T	ENST00000370765.6	-	23	5307	c.5200C>A	c.(5200-5202)Cac>Aac	p.H1734N	DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1113					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.H1734N(1)		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)			ATCTTTCTGTGGGTCATCTGC	0.383													40	136					5.43694e-19	6.4376e-19	1	0	T	56483632	G	T	56483632	3	4	398	1	0	0	0	0	1	0	0	0	4819	1348	47	4	15203	4	DST	6	56483632	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	12902007	56483632	114631435	59	76510											
SMAP1	60682	broad.mit.edu	37	chr6	71501407	71501407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagatttcctcctctgatGctcctcttcagcctttggta	6	15	6	14	0	3	2	1	1	2	1	6	2	6	2	4	1	2	2	4	1	1	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:71501407G>C	ENST00000370455.3	+	5	678	c.430G>C	c.(430-432)Gct>Cct	p.A144P	SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	144					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CTCCTCTGATGCTCCTCTTCA	0.403													17	109					0	0	0	0	C	71501407	G	C	71501407	3	2	398	1	0	0	0	0	1	0	0	0	14854	1319	46	4	448	4	SMAP1	6	71501407	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	15017775	71501407	99613660	60	76511											
PHIP	55023	broad.mit.edu	37	chr6	79655791	79655791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagaagtagatggttgCtcagtgacaactggatctac	12	10	12	7	0	2	4	1	2	1	2	2	5	2	5	0	2	3	4	0	2	5	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:79655791C>A	ENST00000275034.4	-	38	4724	c.4557G>T	c.(4555-4557)gaG>gaT	p.E1519D	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1519					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAGATGGTTGCTCAGTGACAA	0.408													14	75					1.49906e-05	1.67236e-05	1	0	A	79655791	C	A	79655791	3	1	398	1	0	0	0	0	1	0	0	0	11914	796	28	4	920	4	PHIP	6	79655791	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	8154384	79655791	91459276	61	76512											
REV3L	5980	broad.mit.edu	37	chr6	111643869	111643869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctggctttgtgaacaaTactatcgccaacctgttggt	8	14	8	11	1	1	1	0	1	1	0	3	1	1	1	2	2	3	2	2	2	5	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:111643869T>C	ENST00000435970.1	-	28	8836	c.8020A>G	c.(8020-8022)Att>Gtt	p.I2674V	REV3L_ENST00000368802.3_Missense_Mutation_p.I2752V|REV3L_ENST00000368805.1_Missense_Mutation_p.I2752V|REV3L_ENST00000358835.3_Missense_Mutation_p.I2752V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2752					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTGTGAACAATACTATCGCCA	0.363								DNA polymerases (catalytic subunits)					20	114					0	0	0	0	C	111643869	T	C	111643869	3	2	398	1	0	0	0	0	1	0	0	0	13322	1406	49	5	1166	5	REV3L	6	111643869	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	31988078	111643869	59471198	62	76513											
TAAR9	134860	broad.mit.edu	37	chr6	132859943	132859943	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcgatcttttacacgggagCcaacgaagaaggaattgagg	13	9	12	7	3	1	2	0	1	1	1	2	6	1	4	1	3	3	0	1	3	5	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:132859943C>G	ENST00000434551.1	+	0	515					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TACACGGGAGCCAACGAAGAA	0.428													6	117					0	0	0	0	G	132859943	C	G	132859943	1	3	398	0	1	0	0	0	0	0	0	0	15585	739	26	4		4	TAAR9	6	132859943	RNA	SNP	C	TCGA-F7-8489-01A-31D-2394-08	21216074	132859943	38255124	63	76514											
STX11	8676	broad.mit.edu	37	chr6	144507870	144507870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacgaggacatcgtgttcGagacggaccacatcctggag	10	6	12	13	4	0	1	0	0	0	1	3	6	1	4	3	3	0	1	3	3	0	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:144507870G>A	ENST00000367568.4	+	2	289	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	36					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CATCGTGTTCGAGACGGACCA	0.567									Familial Hemophagocytic Lymphohistiocytosis				6	47					0	0	0	0	A	144507870	G	A	144507870	3	1	398	1	0	0	0	0	1	0	0	0	15427	1059	37	1	108	1	STX11	6	144507870	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	11647927	144507870	26607197	64	76515											
KLHL7	55975	broad.mit.edu	37	chr7	23164844	23164844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgttttatcctttatttCtaatttaattttttaaaaag	11	25	2	3	0	1	0	0	0	1	0	2	0	2	0	1	0	0	1	1	0	7	13			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:23164844C>G	ENST00000545771.1	+	5	642	c.429C>G	c.(427-429)ttC>ttG	p.F143L	KLHL7_ENST00000339077.4_Intron|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000322231.7_Intron|KLHL7_ENST00000322275.5_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000545443.1_Intron|KLHL7_ENST00000409689.1_Intron|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000410047.1_Intron			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	0						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTTTATTTCTAATTTAATT	0.284													6	18					0	0	0	0	G	23164844	C	G	23164844	3	3	398	1	0	0	0	0	1	0	0	0	8446	928	32	2		2	KLHL7	7	23164844	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08		23164844	135973819	65	76516											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31146136	31146136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggagatcaagcgaaaatgGcgaagctggaaggtgaaccg	14	4	16	7	4	1	2	1	1	0	1	1	6	1	3	1	4	3	1	1	4	6	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:31146136G>C	ENST00000304166.4	+	16	1534	c.1245G>C	c.(1243-1245)tgG>tgC	p.W415C	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W394C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W471C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W443C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	415					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGCGAAAATGGCGAAGCTGGA	0.607													8	73					0	0	0	0	C	31146136	G	C	31146136	3	2	398	1	0	0	0	0	1	0	0	0	303	1212	42	4	1303	4	ADCYAP1R1	7	31146136	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	7981292	31146136	127992527	66	76517											
ELMO1	9844	broad.mit.edu	37	chr7	36934613	36934613	+	Missense_Mutation	SNP	C	C	A																															cataacctgctccttcaccaCctgcattacctgaagatgaa																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:36934613C>A	ENST00000310758.4	-	17	2094	c.1447G>T	c.(1447-1449)Gtg>Ttg	p.V483L	ELMO1_ENST00000341056.3_Missense_Mutation_p.V185L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V483L|ELMO1_ENST00000396040.2_Missense_Mutation_p.V3L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V483L|ELMO1_ENST00000396045.3_Missense_Mutation_p.V3L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	483	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCTTCACCACCTGCATTACC	0.498													5	65					0.014758	0.0152315	1	0	A	36934613	C	A	36934613	3	1	398	1	0	0	0	0	1	0	0	0	5103	507	18	4	760	4	ELMO1	7	36934613	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	5788477	36934613	122204050	67	76518	1026	2									
ELMO1	9844	broad.mit.edu	37	chr7	36934615	36934615	+	Missense_Mutation	SNP	T	T	C																															taacctgctccttcaccaccTgcattacctgaagatgaaag																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:36934615T>C	ENST00000310758.4	-	17	2092	c.1445A>G	c.(1444-1446)cAg>cGg	p.Q482R	ELMO1_ENST00000341056.3_Missense_Mutation_p.Q184R|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000396040.2_Missense_Mutation_p.Q2R|ELMO1_ENST00000448602.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000396045.3_Missense_Mutation_p.Q2R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	482	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTTCACCACCTGCATTACCTG	0.502													5	65					0	0	0	0	C	36934615	T	C	36934615	3	2	398	1	0	0	0	0	1	0	0	0	5103	1580	55	5	762	5	ELMO1	7	36934615	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	2	36934615	122204048	68	76519	1026	2									
TRIM50	135892	broad.mit.edu	37	chr7	72738498	72738498	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttctcgcagaaaaggctGagcgggttccggtggtgcac	7	9	14	11	3	1	2	0	1	1	1	4	2	3	2	2	4	2	4	2	4	2	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:72738498G>C	ENST00000333149.2	-	2	488	c.288C>G	c.(286-288)ctC>ctG	p.L96L	TRIM50_ENST00000453152.1_Silent_p.L96L|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	96						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGAAAAGGCTGAGCGGGTTCC	0.667											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	116					0	0	0	0	C	72738498	G	C	72738498	2	2	398	1	0	0	0	0	0	0	0	1	16621	1277	45	2		2	TRIM50	7	72738498	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	35803883	72738498	86400165	69	76520											
BAZ1B	9031	broad.mit.edu	37	chr7	72912896	72912896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatggtcctgagcaatctGactggagttctctttgtcac	7	14	10	10	0	3	3	1	3	2	0	5	4	4	4	1	2	1	2	1	2	1	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:72912896G>C	ENST00000339594.4	-	4	840	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q168E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	168	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAGCAATCTGACTGGAGTTC	0.418													27	170					0	0	0	0	C	72912896	G	C	72912896	3	2	398	1	0	0	0	0	1	0	0	0	1334	1299	45	2	4013	2	BAZ1B	7	72912896	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	174398	72912896	86225767	70	76521											
CLIP2	7461	broad.mit.edu	37	chr7	73790923	73790923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgggatgccgagctgcGtgtgcacgagctggaaaaac	9	5	16	11	5	0	0	0	0	0	0	0	4	0	2	2	2	6	3	2	2	2	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:73790923G>T	ENST00000223398.6	+	10	2519	c.2192G>T	c.(2191-2193)cGt>cTt	p.R731L	CLIP2_ENST00000361545.5_Missense_Mutation_p.R696L|CLIP2_ENST00000395060.1_Missense_Mutation_p.R731L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	731						microtubule associated complex		p.R696H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCGAGCTGCGTGTGCACGAG	0.667													7	18					0.0293803	0.0300021	1	0	T	73790923	G	T	73790923	3	4	398	1	0	0	0	0	1	0	0	0	3563	1145	40	3	2226	3	CLIP2	7	73790923	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	878027	73790923	85347740	71	76522											
STAG3L2	442582	broad.mit.edu	37	chr7	74300804	74300804	+	RNA	DEL	A	A	-																															gaacagctgtcttcatacttAaaaaaaaaaaaggatcacag																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					-	74300804	A	-	74300804	6	5	398	0	1	1	0	1	0	0	0	0	15335	377	13	0		0	STAG3L2	7	74300804	RNA	DEL	A	TCGA-F7-8489-01A-31D-2394-08	509881	74300804	84837859	72	76523											
AGFG2	3268	broad.mit.edu	37	chr7	100161551	100161551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccttcccagcaccgctgttCcccccgcagaccccgcttgt	4	9	7	21	3	0	1	0	0	0	1	3	1	3	1	8	0	1	5	8	0	0	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:100161551C>T	ENST00000300176.4	+	10	1388	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	422	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCGCTGTTCCCCCCGCAGA	0.597											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	116					0	0	0	0	T	100161551	C	T	100161551	2	4	398	1	0	0	0	0	0	0	0	1	381	854	30	2		2	AGFG2	7	100161551	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	25860747	100161551	58977112	73	76524											
ZAN	7455	broad.mit.edu	37	chr7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-																															cctccaaagtttttcttttcTtgtttgtttgttttttgaga																								rs71973809		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													4	2	---	---	---	---					-	100384033	TTGT	-	100384030	6	5	398	0	1	1	0	1	0	0	0	0	17609	1624	56	0		0	ZAN	7	100384030	RNA	DEL	TTGT	TCGA-F7-8489-01A-31D-2394-08	222479	100384030	58754633	74	76525											
EZH2	2146	broad.mit.edu	37	chr7	148529746	148529746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cataaaattctgctgtagggGagaccaagaatacattatgg	15	10	10	6	0	1	2	0	0	1	2	1	3	1	2	1	3	2	2	1	3	7	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:148529746G>A	ENST00000320356.2	-	4	464	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	EZH2_ENST00000350995.2_Intron|EZH2_ENST00000483967.1_Missense_Mutation_p.P106S|EZH2_ENST00000541220.1_Missense_Mutation_p.P106S|EZH2_ENST00000476773.1_Missense_Mutation_p.P106S|EZH2_ENST00000478654.1_Missense_Mutation_p.P106S|EZH2_ENST00000460911.1_Missense_Mutation_p.P115S|EZH2_ENST00000536783.1_Missense_Mutation_p.P6S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	115	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGCTGTAGGGGAGACCAAGAA	0.338			Mis		DLBCL								4	54					0	0	0	0	A	148529746	G	A	148529746	3	1	398	1	0	0	0	0	1	0	0	0	5372	1174	41	2	1980	2	EZH2	7	148529746	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	48145716	148529746	10608917	75	76526											
RARRES2	5919	broad.mit.edu	37	chr7	150037234	150037234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtttcttccagtccctcttCcggcagcttgtctgctgcag	3	14	10	14	1	3	0	0	0	3	0	6	0	6	0	3	2	3	5	3	2	0	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:150037234C>T	ENST00000466675.1	-	2	1267	c.234G>A	c.(232-234)cgG>cgA	p.R78R	RARRES2_ENST00000482669.1_Silent_p.R78R|RARRES2_ENST00000223271.3_Silent_p.R78R			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	78					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGTCCCTCTTCCGGCAGCTTG	0.582													41	488					0	0	0	0	T	150037234	C	T	150037234	2	4	398	1	0	0	0	0	0	0	0	1	13138	842	30	2		2	RARRES2	7	150037234	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	1507488	150037234	9101429	76	76527											
CSMD1	64478	broad.mit.edu	37	chr8	3046478	3046478	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtttccgtatggctcaggGtagccgggggacaggattgt	6	12	16	7	2	1	0	1	0	0	0	2	2	2	2	2	5	1	4	2	5	2	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:3046478G>T	ENST00000520002.1	-	36	6012	c.5457C>A	c.(5455-5457)taC>taA	p.Y1819*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1819*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1819	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGGCTCAGGGTAGCCGGGGG	0.468													3	17					0.004672	0.0049273	1	0	T	3046478	G	T	3046478	4	4	398	1	0	0	0	0	0	1	0	0	3976	1256	44	4	5384	4	CSMD1	8	3046478	Nonsense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08		3046478	143317544	77	76528											
CHD7	55636	broad.mit.edu	37	chr8	61712984	61712984	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggtgaagagaaagcgctAcactgaagacctggagttca	15	6	12	8	1	1	4	1	2	0	2	1	6	1	5	1	2	2	2	1	2	4	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:61712984A>T	ENST00000423902.2	+	5	2755	c.2276A>T	c.(2275-2277)tAc>tTc	p.Y759F	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.Y759F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	759					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.556_871dup(1)		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)			AGAAAGCGCTACACTGAAGAC	0.478													4	20					0	0	0	0	T	61712984	A	T	61712984	3	4	398	1	0	0	0	0	1	0	0	0	3359	391	14	5	2290	5	CHD7	8	61712984	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	58666506	61712984	84651038	78	76529											
SLC26A7	115111	broad.mit.edu	37	chr8	92406215	92406215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctagactcagagaaacCaattttttttgaatcggtat	15	13	6	7	1	1	3	1	1	0	2	2	4	1	3	2	1	2	1	2	1	6	6			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:92406215C>G	ENST00000276609.3	+	18	2122	c.1883C>G	c.(1882-1884)cCa>cGa	p.P628R	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P628R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P628R|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	628	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCAGAGAAACCAATTTTTTTT	0.338													6	57					0	0	0	0	G	92406215	C	G	92406215	3	3	398	1	0	0	0	0	1	0	0	0	14610	594	21	4	1949	4	SLC26A7	8	92406215	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	30693231	92406215	53957807	79	76530											
SLC26A7	115111	broad.mit.edu	37	chr8	92407324	92407324	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgaccacagtgaagtctGagacccttttgtcacagtac	11	10	9	11	0	2	3	1	3	1	1	2	4	2	3	2	0	1	1	2	0	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:92407324G>C	ENST00000276609.3	+	19	2209	c.1970G>C	c.(1969-1971)tGa>tCa	p.*657S	SLC26A7_ENST00000523719.1_Nonstop_Mutation_p.*657S|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	0						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTGAAGTCTGAGACCCTTTT	0.398													25	209					0	0	0	0	C	92407324	G	C	92407324	4	2	398	1	0	0	0	0	0	0	0	0	14610	1285	45	2	2101	2	SLC26A7	8	92407324	Nonstop_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	1109	92407324	53956698	80	76531											
ST3GAL1	6482	broad.mit.edu	37	chr8	134472060	134472060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccaaggtggccgtcaCgttagactcaaagtctgcat	10	8	13	10	2	3	1	2	0	1	1	3	2	3	2	2	4	1	2	2	4	3	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:134472060C>T	ENST00000319914.5	-	9	1997	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.V324M|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.V324M|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.V324M			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	324					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GTGGCCGTCACGTTAGACTCA	0.562													18	196					0	0	0	0	T	134472060	C	T	134472060	3	4	398	1	0	0	0	0	1	0	0	0	15304	536	19	1	56	1	ST3GAL1	8	134472060	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	42064736	134472060	11891962	81	76532											
ZNF623	9831	broad.mit.edu	37	chr8	144732346	144732346	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtgtgcaccaagtcaggaAgaaaccatattctgaattca	16	9	8	8	0	3	2	2	1	1	1	3	3	3	3	2	1	2	1	2	1	6	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:144732346A>C	ENST00000501748.2	+	1	393	c.304A>C	c.(304-306)Aga>Cga	p.R102R	ZNF623_ENST00000526926.1_Silent_p.R62R|ZNF623_ENST00000458270.2_Silent_p.R62R	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAAGTCAGGAAGAAACCATAT	0.502													14	131					0	0	0	0	C	144732346	A	C	144732346	2	2	398	1	0	0	0	0	0	0	0	1	18142	64	3	5		5	ZNF623	8	144732346	Silent	SNP	A	TCGA-F7-8489-01A-31D-2394-08	10260286	144732346	1631676	82	76533											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777600	18777600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctgaagccctcggagCgcaggacttccccagtgact	7	7	11	16	3	0	2	0	2	0	0	3	4	2	4	4	2	2	2	4	2	1	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:18777600C>A	ENST00000380548.4	+	19	3712	c.3373C>A	c.(3373-3375)Cgc>Agc	p.R1125S		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1125						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)		GCCCTCGGAGCGCAGGACTTC	0.667													4	23					1	1	1	0	A	18777600	C	A	18777600	3	1	398	1	0	0	0	0	1	0	0	0	274	768	27	3	3451	3	ADAMTSL1	9	18777600	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08		18777600	122435831	83	76534											
POLR1E	64425	broad.mit.edu	37	chr9	37486629	37486629	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcccagtgacagtctagtCccaccgtacattgtgtggta	8	11	9	13	1	1	1	0	1	1	0	3	1	3	1	4	1	1	2	4	1	3	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:37486629C>G	ENST00000377792.3	+	1	480	c.192C>G	c.(190-192)gtC>gtG	p.V64V	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	64					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		ACAGTCTAGTCCCACCgtaca	0.552													4	56					0	0	0	0	G	37486629	C	G	37486629	2	3	398	1	0	0	0	0	0	0	0	1	12285	870	30	2		2	POLR1E	9	37486629	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	18709029	37486629	103726802	84	76535											
TLR4	7099	broad.mit.edu	37	chr9	120475703	120475703	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggatttccagcattccAatttgaaacaaatgagtgag	14	12	8	7	0	1	3	0	3	1	0	3	4	3	4	2	1	2	1	2	1	3	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:120475703A>C	ENST00000355622.6	+	3	1398	c.1297A>C	c.(1297-1299)Aat>Cat	p.N433H	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.N393H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	433					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCAGCATTCCAATTTGAAACA	0.373													13	72					0	0	0	0	C	120475703	A	C	120475703	3	2	398	1	0	0	0	0	1	0	0	0	16047	130	5	5	1307	5	TLR4	9	120475703	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	82989074	120475703	20737728	85	76536											
GTF3C5	9328	broad.mit.edu	37	chr9	135933278	135933278	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaagacgaggaggatGaggaggaggaggaagaggag	14	2	23	2	1	0	3	0	1	0	2	0	12	0	11	0	9	0	0	0	9	2	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:135933278G>T	ENST00000372097.5	+	11	1794	c.1471G>T	c.(1471-1473)Gag>Tag	p.E491*	GTF3C5_ENST00000372108.5_Nonsense_Mutation_p.E498*|GTF3C5_ENST00000372099.6_Nonsense_Mutation_p.E482*|GTF3C5_ENST00000342018.8_Nonsense_Mutation_p.E429*	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	491	Glu-rich.|Poly-Glu.					transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		cgaggaggatgaggaggagga	0.577													9	52					0.010729	0.011193	1	0	T	135933278	G	T	135933278	4	4	398	1	0	0	0	0	0	1	0	0	6926	1291	45	2	1538	2	GTF3C5	9	135933278	Nonsense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	15457575	135933278	5280153	86	76537											
DIP2C	22982	broad.mit.edu	37	chr10	390850	390850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggcaggccgcttctttgGcaaatcatctggagaggaac	9	9	13	10	1	3	1	1	0	2	1	3	3	3	2	1	5	1	3	1	5	2	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:390850G>T	ENST00000280886.6	-	28	3439	c.3352C>A	c.(3352-3354)Cca>Aca	p.P1118T		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1118						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCTTCTTTGGCAAATCATCT	0.527													3	7					0.004672	0.0049273	1	0	T	390850	G	T	390850	3	4	398	1	0	0	0	0	1	0	0	0	4566	1203	42	4	1358	4	DIP2C	10	390850	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08		390850	135143897	87	76538											
PRPF18	8559	broad.mit.edu	37	chr10	13658406	13658406	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctttcaggcaaatgaTgcttatcttcagatggccat	9	15	7	10	0	3	2	2	1	1	1	4	2	4	2	2	2	1	2	2	2	2	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:13658406T>C	ENST00000378572.3	+	9	961	c.801T>C	c.(799-801)gaT>gaC	p.D267D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	267					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGGCAAATGATGCTTATCTTC	0.418													7	61					0	0	0	0	C	13658406	T	C	13658406	2	2	398	1	0	0	0	0	0	0	0	1	12643	1461	51	5		5	PRPF18	10	13658406	Silent	SNP	T	TCGA-F7-8489-01A-31D-2394-08	13267556	13658406	121876341	88	76539											
ZNF33A	7581	broad.mit.edu	37	chr10	38344133	38344133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaccctttcaatgtaatGaatgtgaaaaagctttctgg	15	12	8	6	0	2	3	1	2	1	1	2	3	2	3	1	1	2	2	1	1	6	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:38344133G>C	ENST00000374618.3	+	5	1259	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	ZNF33A_ENST00000458705.2_Missense_Mutation_p.E360Q|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E367Q|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E360Q	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	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCAATGTAATGAATGTGAAAA	0.413													16	90					0	0	0	0	C	38344133	G	C	38344133	3	2	398	1	0	0	0	0	1	0	0	0	17949	1291	45	2	1095	2	ZNF33A	10	38344133	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	24685727	38344133	97190614	89	76540											
CXCL12	6387	broad.mit.edu	37	chr10	44876325	44876325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagctcaggctgacgggcTtccctagaagaggtaaggac	10	8	14	9	1	1	3	1	1	0	2	2	4	2	4	1	4	1	5	1	4	4	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:44876325T>A	ENST00000374429.2	-	2	151	c.65A>T	c.(64-66)aAg>aTg	p.K22M	CXCL12_ENST00000395794.2_Missense_Mutation_p.K22M|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395793.3_Missense_Mutation_p.K22M|CXCL12_ENST00000343575.6_Missense_Mutation_p.K22M|CXCL12_ENST00000374426.2_Missense_Mutation_p.K22M|CXCL12_ENST00000395795.4_Missense_Mutation_p.K22M|AL137026.1_ENST00000593376.1_Intron	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	22					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	GCTGACGGGCTTCCCTAGAAG	0.493													8	196					0	0	0	0	A	44876325	T	A	44876325	3	1	398	1	0	0	0	0	1	0	0	0	4112	1609	56	5	491	5	CXCL12	10	44876325	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	6532192	44876325	90658422	90	76541											
SUPV3L1	6832	broad.mit.edu	37	chr10	70958211	70958211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccttcggcctggggactgCattgtctgttttagcaagaa	9	12	11	9	1	1	1	0	0	1	1	2	2	1	2	2	3	3	3	2	3	4	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:70958211C>T	ENST00000359655.4	+	9	1167	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	369	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGGGACTGCATTGTCTGTT	0.428													9	149					0	0	0	0	T	70958211	C	T	70958211	2	4	398	1	0	0	0	0	0	0	0	1	15492	718	25	4		4	SUPV3L1	10	70958211	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	26081886	70958211	64576536	91	76542											
NRG3	10718	broad.mit.edu	37	chr10	84745220	84745220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagacggtcagaagactaCgaactggccagcgtagaaac	14	4	12	11	3	1	4	1	0	0	4	1	5	1	4	2	2	4	1	2	2	5	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:84745220C>T	ENST00000372142.2	+	11	1633	c.1359C>T	c.(1357-1359)taC>taT	p.Y453Y	NRG3_ENST00000404547.1_Silent_p.Y674Y|NRG3_ENST00000404576.2_Silent_p.Y454Y|NRG3_ENST00000545131.1_Silent_p.Y300Y|NRG3_ENST00000372141.2_Silent_p.Y650Y|NRG3_ENST00000537893.1_Silent_p.Y300Y|NRG3_ENST00000556918.1_Silent_p.Y480Y	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	674					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.Y453Y(1)|p.Y650Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAGAAGACTACGAACTGGCCA	0.488													11	56					0	0	0	0	T	84745220	C	T	84745220	2	4	398	1	0	0	0	0	0	0	0	1	10720	547	19	1		1	NRG3	10	84745220	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	13787009	84745220	50789527	92	76543											
EMX2	2018	broad.mit.edu	37	chr10	119307742	119307742	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacgtgacctcagatgattAaaaacataaacctaacccca	18	7	5	11	1	1	4	1	2	0	2	1	4	1	4	4	0	3	0	4	0	6	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:119307742A>G	ENST00000553456.3	+	3	1582	c.758A>G	c.(757-759)tAa>tGa	p.*253*	EMX2_ENST00000442245.4_3'UTR|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	0						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCAGATGATTAAAAACATAAA	0.453													6	26					0	0	0	0	G	119307742	A	G	119307742	2	3	398	1	0	0	0	0	0	0	0	1	5146	369	13	5		5	EMX2	10	119307742	Silent	SNP	A	TCGA-F7-8489-01A-31D-2394-08	34562522	119307742	16227005	93	76544											
MKI67	4288	broad.mit.edu	37	chr10	129906285	129906285	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctctacatctgctttcctGatacttctcttgggtcgttg	4	17	7	13	1	3	1	0	1	3	0	6	1	4	1	2	1	3	2	2	1	2	6			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:129906285G>A	ENST00000368654.3	-	13	4194	c.3819C>T	c.(3817-3819)atC>atT	p.I1273I	MKI67_ENST00000368653.3_Silent_p.I913I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1273	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGCTTTCCTGATACTTCTCT	0.498													32	161					0	0	0	0	A	129906285	G	A	129906285	2	1	398	1	0	0	0	0	0	0	0	1	9667	1280	45	2		2	MKI67	10	129906285	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	10598543	129906285	5628462	94	76545											
CDHR5	53841	broad.mit.edu	37	chr11	621408	621408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggggccggtccagcctCagggcgggacggtttacact	6	7	15	13	3	1	0	1	0	0	0	3	1	3	1	4	6	2	1	4	6	1	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:621408C>T	ENST00000358353.3	-	7	877	c.555G>A	c.(553-555)ctG>ctA	p.L185L	CDHR5_ENST00000349570.7_Silent_p.L185L|CDHR5_ENST00000397542.2_Silent_p.L185L			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	185	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTCCAGCCTCAGGGCGGGAC	0.657													10	64					0	0	0	0	T	621408	C	T	621408	2	4	398	1	0	0	0	0	0	0	0	1	3151	813	29	2		2	CDHR5	11	621408	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08		621408	134385108	95	76546											
DNHD1	144132	broad.mit.edu	37	chr11	6593057	6593057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctgccagccccagccgaCctgactgtgtactcgtgtcc	6	8	10	17	2	0	1	0	1	0	0	2	3	1	1	7	0	4	1	7	0	1	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:6593057C>A	ENST00000254579.6	+	43	14667	c.14103C>A	c.(14101-14103)gaC>gaA	p.D4701E	DNHD1_ENST00000527990.2_Missense_Mutation_p.D4701E	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4701					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCCAGCCGACCTGACTGTGT	0.627													12	105					0.00010058	0.000110925	1	0	A	6593057	C	A	6593057	3	1	398	1	0	0	0	0	1	0	0	0	4704	506	18	4	14274	4	DNHD1	11	6593057	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	5971649	6593057	128413459	96	76547											
OR6A2	8590	broad.mit.edu	37	chr11	6816047	6816047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcttgacctcttgattgCgcaggcagtaaatgatggga	9	12	11	9	1	2	3	0	3	2	0	3	4	2	4	1	2	1	3	1	2	2	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:6816047C>T	ENST00000332601.3	-	1	1081	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTGATTGCGCAGGCAGTA	0.488													9	106					0	0	0	0	T	6816047	C	T	6816047	3	4	398	1	0	0	0	0	1	0	0	0	11257	768	27	1	94	1	OR6A2	11	6816047	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	222990	6816047	128190469	97	76548											
CYB5R2	51700	broad.mit.edu	37	chr11	7690521	7690522	+	Frame_Shift_Ins	INS	-	-	T																															tctccaaatactgagtcatcINSttcccaccttcaggatattg																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:7690521_7690522insT	ENST00000533558.1	-	5	858_859	c.302_303insA	c.(301-303)aatfs	p.N101fs	CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.N101fs			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	101	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTGAGTCATCTTCCCACCTTC	0.48													19	119	---	---	---	---					T	7690522	-	T	7690521	7	5	398	1	0	1	1	0	0	0	0	0	4159	912	32	0	547	0	CYB5R2	11	7690521	Frame_Shift_Ins	INS	-	TCGA-F7-8489-01A-31D-2394-08	874474	7690521	127315995	98	76549											
SLC5A12	159963	broad.mit.edu	37	chr11	26734222	26734222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgaccgtggcagcatagCgaactggtttgttgaatcgt	10	11	13	7	3	0	3	0	2	0	1	1	4	0	3	1	2	3	4	1	2	3	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:26734222C>A	ENST00000396005.3	-	2	680	c.371G>T	c.(370-372)cGc>cTc	p.R124L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGCAGCATAGCGAACTGGTTT	0.398													11	242					5.50884e-06	6.21758e-06	1	0	A	26734222	C	A	26734222	3	1	398	1	0	0	0	0	1	0	0	0	14752	768	27	3	1541	3	SLC5A12	11	26734222	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	19043701	26734222	108272294	99	76550											
API5	8539	broad.mit.edu	37	chr11	43333735	43333735	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggccgatgccacggagCaagtgggccaggtgagttga	8	7	16	10	2	0	2	0	2	0	0	1	4	1	3	4	4	2	2	4	4	1	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:43333735C>T	ENST00000378852.3	+	1	183	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	API5_ENST00000420461.2_Nonsense_Mutation_p.Q20*|API5_ENST00000455725.2_5'UTR|API5_ENST00000534600.1_Nonsense_Mutation_p.Q20*|API5_ENST00000531273.1_Nonsense_Mutation_p.Q20*|API5_ENST00000534695.1_Nonsense_Mutation_p.Q20*	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	20					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TGCCACGGAGCAAGTGGGCCA	0.677											OREG0020900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31					0	0	0	0	T	43333735	C	T	43333735	4	4	398	1	0	0	0	0	0	1	0	0	774	711	25	4	60	4	API5	11	43333735	Nonsense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	16599513	43333735	91672781	100	76551											
OR5L1	219437	broad.mit.edu	37	chr11	55579540	55579540	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgaatgagacactgctgTtcctggtggccactttgaat	8	13	11	9	0	0	3	0	3	0	1	1	4	1	3	2	2	1	2	2	2	2	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:55579540T>A	ENST00000333973.2	+	1	687	c.598T>A	c.(598-600)Ttc>Atc	p.F200I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GACACTGCTGTTCCTGGTGGC	0.458													24	193					0	0	0	0	A	55579540	T	A	55579540	3	1	398	1	0	0	0	0	1	0	0	0	11241	1725	60	5	600	5	OR5L1	11	55579540	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	12245805	55579540	79426976	101	76552											
OR5F1	338674	broad.mit.edu	37	chr11	55761495	55761495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccacaatattcacaccagCcaaaatagaacttatgcttt	15	10	3	13	0	1	1	1	0	0	1	1	1	1	1	4	0	3	1	4	0	7	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:55761495C>G	ENST00000278409.1	-	1	606	c.607G>C	c.(607-609)Gct>Cct	p.A203P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTCACACCAGCCAAAATAGAA	0.463													6	91					0	0	0	0	G	55761495	C	G	55761495	3	3	398	1	0	0	0	0	1	0	0	0	11229	739	26	4	340	4	OR5F1	11	55761495	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	181955	55761495	79245021	102	76553											
NUDT22	84304	broad.mit.edu	37	chr11	63996766	63996766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcccctgctgttgggcatCgcccgaaatgagaccagtgc	8	7	12	14	2	0	1	0	1	0	1	1	3	0	1	4	1	3	3	4	1	1	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:63996766C>T	ENST00000279206.3	+	4	783	c.627C>T	c.(625-627)atC>atT	p.I209I	RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Silent_p.I176I	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	209	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						TGTTGGGCATCGCCCGAAATG	0.632													3	12					0	0	0	0	T	63996766	C	T	63996766	2	4	398	1	0	0	0	0	0	0	0	1	10810	874	31	1		1	NUDT22	11	63996766	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	8235271	63996766	71009750	103	76554											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810593	65810593	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctccacctggcggatGaggcccgccaggtaggcggc	6	5	14	16	3	0	1	0	1	0	0	2	2	2	2	6	6	0	1	6	6	1	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:65810593G>T	ENST00000312006.4	-	3	962	c.681C>A	c.(679-681)ctC>ctA	p.L227L	GAL3ST3_ENST00000527878.1_Silent_p.L227L	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	227					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CCTGGCGGATGAGGCCCGCCA	0.667													14	50					7.93312e-07	9.00643e-07	1	0	T	65810593	G	T	65810593	2	4	398	1	0	0	0	0	0	0	0	1	6248	1277	45	2		2	GAL3ST3	11	65810593	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	1813827	65810593	69195923	104	76555											
SUV420H1	51111	broad.mit.edu	37	chr11	67957513	67957513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttctcctgccattcaccaCcatgatcttggattctccca	8	14	4	15	0	4	1	1	1	3	0	6	2	4	2	5	1	1	0	5	1	0	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:67957513C>T	ENST00000304363.4	-	2	384	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	SUV420H1_ENST00000405515.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402789.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402185.2_Missense_Mutation_p.V11M|SUV420H1_ENST00000401547.2_Missense_Mutation_p.V11M	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCATTCACCACCATGATCTTG	0.458													30	205					0	0	0	0	T	67957513	C	T	67957513	3	4	398	1	0	0	0	0	1	0	0	0	15504	507	18	4	2674	4	SUV420H1	11	67957513	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	2146920	67957513	67049003	105	76556											
XRRA1	143570	broad.mit.edu	37	chr11	74559263	74559263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggacagggtctcttcaCtatgcacagtggagttggag	8	10	16	7	0	2	0	1	0	1	0	3	3	2	3	0	5	1	2	0	5	1	3	rs143922076	by1000genomes	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:74559263C>G	ENST00000340360.6	-	15	1932	c.1601G>C	c.(1600-1602)aGt>aCt	p.S534T	XRRA1_ENST00000321448.8_Missense_Mutation_p.S259T|XRRA1_ENST00000527087.1_Missense_Mutation_p.S447T	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	534					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGTCTCTTCACTATGCACAGT	0.587													11	37					0	0	0	0	G	74559263	C	G	74559263	3	3	398	1	0	0	0	0	1	0	0	0	17557	565	20	4	797	4	XRRA1	11	74559263	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	6601750	74559263	60447253	106	76557											
OR6M1	390261	broad.mit.edu	37	chr11	123676215	123676215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtagataaaagggttcagGagaggggtcaccactgtgat	12	9	14	6	0	2	3	2	1	0	2	2	4	2	3	1	4	0	2	1	4	3	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:123676215G>A	ENST00000309154.2	-	1	880	c.843C>T	c.(841-843)ctC>ctT	p.L281L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAGGGTTCAGGAGAGGGGTCA	0.473													17	83					0	0	0	0	A	123676215	G	A	123676215	2	1	398	1	0	0	0	0	0	0	0	1	11276	1161	41	2		2	OR6M1	11	123676215	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	49116952	123676215	11330301	107	76558											
RAD52	5893	broad.mit.edu	37	chr12	1039024	1039024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgcacagactcccacgtaGaacttgccattgttgaggtc	11	10	9	11	1	0	3	0	1	0	2	2	3	1	3	2	1	3	3	2	1	3	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:1039024G>C	ENST00000358495.3	-	5	447	c.309C>G	c.(307-309)ttC>ttG	p.F103L	RAD52_ENST00000539046.1_Missense_Mutation_p.F26L|RAD52_ENST00000536177.1_Missense_Mutation_p.F103L|RAD52_ENST00000430095.2_Missense_Mutation_p.F103L|RAD52_ENST00000545564.1_Missense_Mutation_p.F103L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	103					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCCCACGTAGAACTTGCCAT	0.547								Homologous recombination					44	248					0	0	0	0	C	1039024	G	C	1039024	3	2	398	1	0	0	0	0	1	0	0	0	13073	933	33	2	979	2	RAD52	12	1039024	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08		1039024	132812871	108	76559											
LRTM2	654429	broad.mit.edu	37	chr12	1940653	1940653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgactgtaacctgcGtgagttcaaacactggatgg	10	10	14	7	1	1	2	1	2	0	0	1	4	1	4	1	3	3	2	1	3	2	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:1940653G>A	ENST00000543818.1	+	4	1462	c.620G>A	c.(619-621)cGt>cAt	p.R207H	LRTM2_ENST00000299194.1_Missense_Mutation_p.R207H|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.R207H|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	207	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGTAACCTGCGTGAGTTCAAA	0.602													13	80					0	0	0	0	A	1940653	G	A	1940653	3	1	398	1	0	0	0	0	1	0	0	0	9109	1145	40	1	626	1	LRTM2	12	1940653	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	901629	1940653	131911242	109	76560											
SLC38A2	54407	broad.mit.edu	37	chr12	46756292	46756292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaccaataaaaccaaagaTatccctaatagttgggacaa	18	9	5	9	0	0	1	0	0	0	1	1	2	1	2	3	1	2	1	3	1	9	6			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:46756292T>C	ENST00000256689.5	-	14	1753	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	SLC38A2_ENST00000551374.1_Missense_Mutation_p.I275V	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	437					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAACCAAAGATATCCCTAATA	0.348													12	52					0	0	0	0	C	46756292	T	C	46756292	3	2	398	1	0	0	0	0	1	0	0	0	14692	1406	49	5	223	5	SLC38A2	12	46756292	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	44815639	46756292	87095603	110	76561											
C12orf54	121273	broad.mit.edu	37	chr12	48888659	48888659	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagagcagccatcaggAggccgtatccacaacctgaa	12	6	11	12	1	2	2	1	1	1	1	3	4	3	3	4	3	3	2	4	3	3	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:48888659A>G	ENST00000314014.2	+	8	452	c.321A>G	c.(319-321)ggA>ggG	p.G107G	C12orf54_ENST00000548364.1_Silent_p.G107G|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	107										endometrium(1)|large_intestine(4)	5						AGCCATCAGGAGGCCGTATCC	0.483													17	118					0	0	0	0	G	48888659	A	G	48888659	2	3	398	1	0	0	0	0	0	0	0	1	1711	291	11	5		5	C12orf54	12	48888659	Silent	SNP	A	TCGA-F7-8489-01A-31D-2394-08	2132367	48888659	84963236	111	76562											
DGKA	1606	broad.mit.edu	37	chr12	56334184	56334184	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccggatctaccacagtctGaccgggctgcattgtgtatg	8	11	11	11	2	2	1	0	1	2	0	3	2	3	2	3	2	2	3	3	2	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:56334184G>T	ENST00000331886.5	+	11	1339	c.885G>T	c.(883-885)ctG>ctT	p.L295L	DGKA_ENST00000394147.1_Silent_p.L295L|DGKA_ENST00000551156.1_Silent_p.L295L|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	295					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACCACAGTCTGACCGGGCTGC	0.602											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	110					0.000978159	0.0010488	1	0	T	56334184	G	T	56334184	2	4	398	1	0	0	0	0	0	0	0	1	4502	1277	45	2		2	DGKA	12	56334184	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	7445525	56334184	77517711	112	76563											
LRP1	4035	broad.mit.edu	37	chr12	57556243	57556243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccactgtgacccttctGcgcagtgagcggccccccat	5	7	9	20	2	1	2	0	2	1	0	1	2	1	2	7	1	2	1	7	1	0	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:57556243G>T	ENST00000243077.3	+	14	2812	c.2346G>T	c.(2344-2346)ctG>ctT	p.L782L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	782					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACCCTTCTGCGCAGTGAGC	0.617													12	96					1.5842e-08	1.84187e-08	1	0	T	57556243	G	T	57556243	2	4	398	1	0	0	0	0	0	0	0	1	9015	1306	46	4		4	LRP1	12	57556243	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	1222059	57556243	76295652	113	76564											
LRP1	4035	broad.mit.edu	37	chr12	57605075	57605075	+	Frame_Shift_Del	DEL	A	A	-																															ggtgtgaggtgaacaagtgcAgccgctgtctcgaaggggcc																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:57605075delA	ENST00000243077.3	+	84	13499	c.13033delA	c.(13033-13035)gcfs	p.S4345fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4345	EGF-like 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAACAAGTGCAGCCGCTGTCT	0.602													13	66	---	---	---	---					-	57605075	A	-	57605075	7	5	398	1	0	1	0	1	0	0	0	0	9015	188	7	0	13367	0	LRP1	12	57605075	Frame_Shift_Del	DEL	A	TCGA-F7-8489-01A-31D-2394-08	48832	57605075	76246820	114	76565											
MYBPC1	4604	broad.mit.edu	37	chr12	102020655	102020655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttcttgtttcagatgaaGaggaagtctccccgcctagc	9	13	9	10	1	3	3	1	1	2	2	4	4	3	4	3	1	1	1	3	1	4	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:102020655G>A	ENST00000549145.1	+	4	209	c.109G>A	c.(109-111)Gag>Aag	p.E37K	MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E11K|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000553190.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	35					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTCAGATGAAGAGGAAGTCTC	0.393													6	60					0	0	0	0	A	102020655	G	A	102020655	3	1	398	1	0	0	0	0	1	0	0	0	10081	943	33	2	123	2	MYBPC1	12	102020655	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	44415580	102020655	31831240	115	76566											
RPLP0	6175	broad.mit.edu	37	chr12	120636428	120636428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtagatgctgccattgtCgaacacctgctggatgacca	9	11	11	10	1	0	2	0	1	0	1	1	4	0	3	3	1	4	4	3	1	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:120636428C>T	ENST00000551150.1	-	5	895	c.580G>A	c.(580-582)Gac>Aac	p.D194N	RPLP0_ENST00000392514.4_Missense_Mutation_p.D194N|RPLP0_ENST00000228306.4_Missense_Mutation_p.D194N|RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000546989.1_Missense_Mutation_p.D158N			P05388	RLA0_HUMAN	ribosomal protein, large, P0	194					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCATTGTCGAACACCTGC	0.527													9	87					0	0	0	0	T	120636428	C	T	120636428	3	4	398	1	0	0	0	0	1	0	0	0	13689	884	31	1	385	1	RPLP0	12	120636428	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	18615773	120636428	13215467	116	76567											
ULK1	8408	broad.mit.edu	37	chr12	132405861	132405861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctccacaggcaagctgtgCattgagcggagactctcggc	8	7	12	14	2	1	2	0	1	1	1	3	3	2	2	2	3	3	3	2	3	1	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:132405861C>T	ENST00000321867.4	+	28	3459	c.3108C>T	c.(3106-3108)tgC>tgT	p.C1036C	ULK1_ENST00000540647.1_Silent_p.C281C	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1036					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAAGCTGTGCATTGAGCGGA	0.667													11	161					0	0	0	0	T	132405861	C	T	132405861	2	4	398	1	0	0	0	0	0	0	0	1	17071	718	25	4		4	ULK1	12	132405861	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	11769433	132405861	1446034	117	76568											
CENPJ	55835	broad.mit.edu	37	chr13	25479735	25479735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccataagtggattcattcCcaagaacaacatcatggtta	14	11	6	10	0	2	1	2	0	0	1	4	2	4	2	2	2	2	1	2	2	5	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr13:25479735C>T	ENST00000381884.4	-	7	2626	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E	CENPJ_ENST00000545981.1_Missense_Mutation_p.G814E	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	814					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGATTCATTCCCAAGAACAAC	0.408													9	127					0	0	0	0	T	25479735	C	T	25479735	3	4	398	1	0	0	0	0	1	0	0	0	3263	623	22	4	1619	4	CENPJ	13	25479735	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08		25479735	89690143	118	76569											
PCDH20	64881	broad.mit.edu	37	chr13	61986011	61986011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgaggaaacaaaacaaGaggagggttgtcattgatat	17	8	12	4	0	1	4	1	2	0	2	1	6	1	6	0	3	2	1	0	3	5	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr13:61986011G>T	ENST00000409186.1	-	5	4326	c.2221C>A	c.(2221-2223)Ctt>Att	p.L741I	PCDH20_ENST00000409204.4_Missense_Mutation_p.L741I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	714	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACAAAACAAGAGGAGGGTTG	0.453													24	140					3.08376e-08	3.56387e-08	1	0	T	61986011	G	T	61986011	3	4	398	1	0	0	0	0	1	0	0	0	11586	942	33	2	638	2	PCDH20	13	61986011	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	36506276	61986011	53183867	119	76570											
METTL3	56339	broad.mit.edu	37	chr14	21971906	21971906	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctaactcaggatctgtAgctaattcaggaactgctga	11	13	8	9	0	4	1	2	1	2	0	5	3	4	3	0	2	4	3	0	2	4	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:21971906A>T	ENST00000298717.4	-	2	370	c.219T>A	c.(217-219)gcT>gcA	p.A73A	METTL3_ENST00000538267.1_Silent_p.A73A	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	73					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CAGGATCTGTAGCTAATTCAG	0.532													19	162					0	0	0	0	T	21971906	A	T	21971906	2	4	398	1	0	0	0	0	0	0	0	1	9570	407	15	5		5	METTL3	14	21971906	Silent	SNP	A	TCGA-F7-8489-01A-31D-2394-08		21971906	85377634	120	76571											
PLEKHG3	26030	broad.mit.edu	37	chr14	65198159	65198159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggagggcacattccgCgtgcatcgcgtgcgcaatga	7	8	14	12	5	0	1	0	1	0	0	3	2	2	2	2	2	2	3	2	2	1	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:65198159C>T	ENST00000247226.7	+	6	1070	c.762C>T	c.(760-762)cgC>cgT	p.R254R	PLEKHG3_ENST00000394691.1_Silent_p.R310R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	310	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCACATTCCGCGTGCATCGCG	0.557													13	73					0	0	0	0	T	65198159	C	T	65198159	2	4	398	1	0	0	0	0	0	0	0	1	12142	755	27	1		1	PLEKHG3	14	65198159	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	43226253	65198159	42151381	121	76572											
DYNC1H1	1778	broad.mit.edu	37	chr14	102516442	102516442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggccacgtgcaacaacaaCaagctgtcactgtccaatgc	12	6	10	13	1	1	0	1	0	0	0	2	0	2	0	2	2	6	2	2	2	5	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:102516442C>T	ENST00000360184.4	+	77	13883	c.13719C>T	c.(13717-13719)aaC>aaT	p.N4573N	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4573					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAACAACAACAAGCTGTCAC	0.552													15	77					0	0	0	0	T	102516442	C	T	102516442	2	4	398	1	0	0	0	0	0	0	0	1	4877	477	17	4		4	DYNC1H1	14	102516442	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	37318283	102516442	4833098	122	76573											
HERC2	8924	broad.mit.edu	37	chr15	28408263	28408263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaggcggtccccatgcCggaaagcaccgcggagagca	9	4	16	12	4	0	1	0	0	0	1	1	3	1	2	4	5	3	3	4	5	2	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:28408263C>T	ENST00000261609.7	-	69	10831	c.10723G>A	c.(10723-10725)Ggc>Agc	p.G3575S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3575					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCCCCATGCCGGAAAGCACC	0.647													11	65					0	0	0	0	T	28408263	C	T	28408263	3	4	398	1	0	0	0	0	1	0	0	0	7108	652	23	1	3881	1	HERC2	15	28408263	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08		28408263	74123129	123	76574											
APBA2	321	broad.mit.edu	37	chr15	29346522	29346522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtggacggactcggcGggcccgcacccccacggcca	7	2	16	16	5	0	0	0	0	0	0	1	4	0	3	4	6	0	1	4	6	0	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:29346522G>A	ENST00000558402.1	+	5	1034	c.435G>A	c.(433-435)gcG>gcA	p.A145A	APBA2_ENST00000561069.1_Silent_p.A145A|APBA2_ENST00000558259.1_Silent_p.A145A|APBA2_ENST00000558330.1_Silent_p.A145A|APBA2_ENST00000411764.1_Silent_p.A145A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	145					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGACTCGGCGGGCCCGCACC	0.672													10	57					0	0	0	0	A	29346522	G	A	29346522	2	1	398	1	0	0	0	0	0	0	0	1	758	1103	39	1		1	APBA2	15	29346522	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	938259	29346522	73184870	124	76575											
OIP5	11339	broad.mit.edu	37	chr15	41602007	41602007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcagaatcttcattagtGattttaagcgattgtgcgtt	10	16	8	7	2	3	2	2	1	1	1	3	3	3	2	0	0	2	1	0	0	3	6			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:41602007G>A	ENST00000220514.3	-	5	694	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	212					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTTCATTAGTGATTTTAAGCG	0.378													4	62					0	0	0	0	A	41602007	G	A	41602007	3	1	398	1	0	0	0	0	1	0	0	0	10919	1294	45	2	58	2	OIP5	15	41602007	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	12255485	41602007	60929385	125	76576											
AQP9	366	broad.mit.edu	37	chr15	58471425	58471425	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcccattgccatcggcctCctgattattgtcattgcttc	6	14	8	13	1	1	1	1	1	0	0	4	2	2	1	4	1	3	1	4	1	1	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:58471425C>T	ENST00000219919.4	+	5	964	c.594C>T	c.(592-594)ctC>ctT	p.L198L	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Silent_p.L133L|AQP9_ENST00000536493.1_Silent_p.L198L	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	198					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CCATCGGCCTCCTGATTATTG	0.547													8	62					0	0	0	0	T	58471425	C	T	58471425	2	4	398	1	0	0	0	0	0	0	0	1	835	842	30	2		2	AQP9	15	58471425	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	16869418	58471425	44059967	126	76577											
IGF1R	3480	broad.mit.edu	37	chr15	99434613	99434613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatgagtgctgccaccccGagtgcctgggcagctgcagc	8	6	13	14	1	0	1	0	1	0	0	0	2	0	1	4	1	6	4	4	1	1	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:99434613G>A	ENST00000268035.6	+	3	1311	c.700G>A	c.(700-702)Gag>Aag	p.E234K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E234K|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	234					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGCCACCCCGAGTGCCTGGG	0.647													5	32					0	0	0	0	A	99434613	G	A	99434613	3	1	398	1	0	0	0	0	1	0	0	0	7624	1059	37	1	710	1	IGF1R	15	99434613	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	40963188	99434613	3096779	127	76578											
TELO2	9894	broad.mit.edu	37	chr16	1550120	1550120	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctgcagagcctgctGggccatctggccatggacag	7	7	13	14	0	1	1	0	0	1	1	1	2	1	2	4	3	4	3	4	3	0	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:1550120G>T	ENST00000262319.6	+	7	1236	c.957G>T	c.(955-957)ctG>ctT	p.L319L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	319						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGAGCCTGCTGGGCCATCTGG	0.697													5	21					1.024e-07	1.17638e-07	1	0	T	1550120	G	T	1550120	2	4	398	1	0	0	0	0	0	0	0	1	15851	1335	47	4		4	TELO2	16	1550120	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08		1550120	88804633	128	76579											
PPL	5493	broad.mit.edu	37	chr16	4934533	4934533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcagctccacatcgaTgctctcggcaaaggcgctcg	7	7	11	16	5	1	0	0	0	1	0	5	1	2	0	2	2	3	5	2	2	1	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:4934533T>A	ENST00000345988.2	-	22	4212	c.4123A>T	c.(4123-4125)Atc>Ttc	p.I1375F	PPL_ENST00000590782.2_Missense_Mutation_p.I1373F	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1375					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCACATCGATGCTCTCGGCA	0.682													14	218					0	0	0	0	A	4934533	T	A	4934533	3	1	398	1	0	0	0	0	1	0	0	0	12410	1464	51	5	1151	5	PPL	16	4934533	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	3384413	4934533	85420220	129	76580											
KATNB1	10300	broad.mit.edu	37	chr16	57785854	57785854	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctgccctgcctccagctCtgggatctcactgccggcaa	5	9	9	18	1	2	0	1	0	2	0	5	1	4	1	5	2	4	2	5	2	1	0			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:57785854C>G	ENST00000379661.3	+	8	911	c.519C>G	c.(517-519)ctC>ctG	p.L173L		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	173	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GCCTCCAGCTCTGGGATCTCA	0.602													6	24					0	0	0	0	G	57785854	C	G	57785854	2	3	398	1	0	0	0	0	0	0	0	1	8040	900	32	2		2	KATNB1	16	57785854	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	52851321	57785854	32568899	130	76581											
KCTD19	146212	broad.mit.edu	37	chr16	67327850	67327850	+	Silent	SNP	A	A	G																															ttcttctttggggggctctcAgggtggctcccccagtgtcc																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:67327850A>G	ENST00000304372.5	-	12	1870	c.1815T>C	c.(1813-1815)ccT>ccC	p.P605P		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	605						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGGGCTCTCAGGGTGGCTCC	0.547													17	205					0	0	0	0	G	67327850	A	G	67327850	2	3	398	1	0	0	0	0	0	0	0	1	8159	175	7	5		5	KCTD19	16	67327850	Silent	SNP	A	TCGA-F7-8489-01A-31D-2394-08	9541996	67327850	23026903	131	76582	1027	2									
KCTD19	146212	broad.mit.edu	37	chr16	67327851	67327851	+	Missense_Mutation	SNP	G	G	T																															tcttctttggggggctctcaGggtggctcccccagtgtcca																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:67327851G>T	ENST00000304372.5	-	12	1869	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	605						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGGCTCTCAGGGTGGCTCCC	0.547													17	208					0.000566183	0.000613895	1	0	T	67327851	G	T	67327851	3	4	398	1	0	0	0	0	1	0	0	0	8159	1000	35	4	986	4	KCTD19	16	67327851	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	1	67327851	23026902	132	76583	1027	2									
WDR59	79726	broad.mit.edu	37	chr16	74949788	74949788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccacattgacattccggaTttgcacattgatcagggaga	11	11	9	10	1	1	3	1	2	0	1	3	5	3	4	2	2	1	1	2	2	0	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:74949788T>C	ENST00000262144.6	-	13	1334	c.1204A>G	c.(1204-1206)Atc>Gtc	p.I402V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	402	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACATTCCGGATTTGCACATTG	0.448													12	84					0	0	0	0	C	74949788	T	C	74949788	3	2	398	1	0	0	0	0	1	0	0	0	17404	1493	52	5	1776	5	WDR59	16	74949788	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08	7621937	74949788	15404965	133	76584											
IRF8	3394	broad.mit.edu	37	chr16	85948094	85948094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcgtgccgctggtgaCggggtacaccacctacgacg	7	6	15	13	5	0	1	0	1	0	0	0	2	0	1	3	4	4	3	3	4	2	2	rs140514602	by1000genomes	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:85948094C>T	ENST00000268638.5	+	6	991	c.569C>T	c.(568-570)aCg>aTg	p.T190M	IRF8_ENST00000562492.1_5'UTR	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	190					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGCTGGTGACGGGGTACACC	0.587													5	52					0	0	0	0	T	85948094	C	T	85948094	3	4	398	1	0	0	0	0	1	0	0	0	7889	536	19	1	587	1	IRF8	16	85948094	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	10998306	85948094	4406659	134	76585											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	10	10	6	15	1	1	1	1	0	0	1	4	1	3	1	4	0	3	4	4	0	4	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			5	24					0	0	0	0	T	7577141	C	T	7577141	3	4	398	1	0	0	0	0	1	0	0	0	16476	855	30	2	489	2	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08		7577141	73618069	135	76586											
EFNB3	1949	broad.mit.edu	37	chr17	7612679	7612679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctggtcctggctccttcGggaggggagggtctctgggc	3	9	17	12	1	1	0	0	0	1	0	5	2	3	2	3	7	0	1	3	7	0	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7612679G>A	ENST00000226091.2	+	5	1205	c.808G>A	c.(808-810)Ggg>Agg	p.G270R		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	270					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGGCTCCTTCGGGAGGGGAGG	0.716													6	14					0	0	0	0	A	7612679	G	A	7612679	3	1	398	1	0	0	0	0	1	0	0	0	4993	1116	39	1	826	1	EFNB3	17	7612679	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	35538	7612679	73582531	136	76587											
DNAH2	146754	broad.mit.edu	37	chr17	7636499	7636499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtttgggacggtgcgggGcccctatatcccggccctgc	4	8	15	14	3	0	0	0	0	0	0	1	1	1	1	4	5	2	2	4	5	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7636499G>A	ENST00000572933.1	+	5	1954	c.494G>A	c.(493-495)gGc>gAc	p.G165D	DNAH2_ENST00000570791.1_Missense_Mutation_p.G165D|DNAH2_ENST00000082259.3_Missense_Mutation_p.G165D|DNAH2_ENST00000389173.2_Missense_Mutation_p.G165D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	165	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGGTGCGGGGCCCCTATATC	0.552													23	113					0	0	0	0	A	7636499	G	A	7636499	3	1	398	1	0	0	0	0	1	0	0	0	4639	1203	42	4	508	4	DNAH2	17	7636499	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	23820	7636499	73558711	137	76588											
MYH2	4620	broad.mit.edu	37	chr17	10446477	10446477	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtggattctgatgaatttaCccttgaaataaaagctaata	16	13	7	5	0	1	3	0	3	1	0	1	4	1	4	1	1	2	1	1	1	7	7			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:10446477C>A	ENST00000245503.5	-	9	1127	c.741_splice	c.e9-1	p.G248_splice	MYH2_ENST00000532183.1_Splice_Site_p.G248_splice|MYH2_ENST00000397183.2_Splice_Site_p.G248_splice|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	248	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GATGAATTTACCCTTGAAATA	0.274													6	70					0.0293803	0.0300021	1	0	A	10446477	C	A	10446477	5	1	398	1	0	0	0	0	0	0	1	0	10105	521	18	4	5210	4	MYH2	17	10446477	Splice_Site	SNP	C	TCGA-F7-8489-01A-31D-2394-08	2809978	10446477	70748733	138	76589											
MAP2K4	6416	broad.mit.edu	37	chr17	12032584	12032584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggaattctccccgagtttCatcaactttgtcaacttgtg	9	14	8	10	1	4	0	3	0	1	0	5	2	4	1	2	1	2	1	2	1	3	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:12032584C>T	ENST00000415385.3	+	10	1106	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	MAP2K4_ENST00000353533.5_Silent_p.F340F			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	340	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like 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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCCCGAGTTTCATCAACTTTG	0.423			"D, Mis, N"		"pancreatic, breast, colorectal"								12	45					0	0	0	0	T	12032584	C	T	12032584	2	4	398	1	0	0	0	0	0	0	0	1	9308	825	29	2		2	MAP2K4	17	12032584	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	1586107	12032584	69162626	139	76590											
TOM1L2	146691	broad.mit.edu	37	chr17	17788011	17788011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgggaaattcaacccctttCctcttcagctcctcatatat	10	14	4	13	0	4	0	3	0	1	0	6	1	6	1	4	1	2	1	4	1	4	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:17788011C>T	ENST00000581396.1	-	4	384	c.288G>A	c.(286-288)agG>agA	p.R96R	TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Silent_p.R146R|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000379504.3_Silent_p.R146R|TOM1L2_ENST00000318094.10_Intron	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	146	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAACCCCTTTCCTCTTCAGCT	0.517													15	117					0	0	0	0	T	17788011	C	T	17788011	2	4	398	1	0	0	0	0	0	0	0	1	16447	854	30	2		2	TOM1L2	17	17788011	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	5755427	17788011	63407199	140	76591											
ACE	1636	broad.mit.edu	37	chr17	61571289	61571289	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccttgcagagcatgAcatcaactttctgatgaaga	11	11	7	12	0	2	5	1	3	1	2	3	5	3	5	2	0	3	2	2	0	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:61571289A>T	ENST00000577647.1	+	10	1466	c.1421A>T	c.(1420-1422)gAc>gTc	p.D474V	ACE_ENST00000490216.2_Missense_Mutation_p.D474V|ACE_ENST00000428043.1_Missense_Mutation_p.D1048V|ACE_ENST00000421982.2_Missense_Mutation_p.D294V|ACE_ENST00000413513.3_Missense_Mutation_p.D474V|ACE_ENST00000290863.6_Missense_Mutation_p.D474V|ACE_ENST00000290866.4_Missense_Mutation_p.D1048V			P12821	ACE_HUMAN	angiotensin I converting enzyme	1048	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCAGAGCATGACATCAACTTT	0.572													4	64					0	0	0	0	T	61571289	A	T	61571289	3	4	398	1	0	0	0	0	1	0	0	0	136	275	10	5	3428	5	ACE	17	61571289	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	43783278	61571289	19623921	141	76592											
ABCA9	10350	broad.mit.edu	37	chr17	66987079	66987079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggtttggaaaaatagCgttgcttcttggagaaattc	10	15	11	5	1	2	1	0	0	2	1	3	3	2	2	0	3	2	3	0	3	4	7			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:66987079C>G	ENST00000340001.4	-	29	3947	c.3736G>C	c.(3736-3738)Gct>Cct	p.A1246P	ABCA9_ENST00000370732.2_Missense_Mutation_p.A1246P|ABCA9_ENST00000453985.2_Missense_Mutation_p.A1208P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1246					transport	integral to membrane	ATP binding|ATPase activity	p.A1246T(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGAAAAATAGCGTTGCTTCTT	0.368													6	44					0	0	0	0	G	66987079	C	G	66987079	3	3	398	1	0	0	0	0	1	0	0	0	39	768	27	3	1182	3	ABCA9	17	66987079	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	5415790	66987079	14208131	142	76593											
SMCHD1	23347	broad.mit.edu	37	chr18	2728467	2728467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgttaggtcaccctcgtcGactgaaagtgaaacctgatt	11	11	9	10	2	1	3	1	3	0	0	3	4	1	3	2	1	1	1	2	1	3	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:2728467G>A	ENST00000320876.6	+	23	3124	c.2786G>A	c.(2785-2787)cGa>cAa	p.R929Q	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R929Q|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	929					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CACCCTCGTCGACTGAAAGTG	0.318													3	22					0	0	0	0	A	2728467	G	A	2728467	3	1	398	1	0	0	0	0	1	0	0	0	14876	1058	37	1	2876	1	SMCHD1	18	2728467	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08		2728467	75348781	143	76594											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859811	6859811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttctccatttagccagAtgatgcttctctcaacagta	10	16	5	10	0	3	2	1	1	2	1	5	2	3	2	2	0	3	2	2	0	4	6			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:6859811A>G	ENST00000419673.2	+	4	381	c.164A>G	c.(163-165)gAt>gGt	p.D55G	ARHGAP28_ENST00000383472.4_Missense_Mutation_p.D214G|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D162G|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D55G|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D214G|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D37G|ARHGAP28_ENST00000531294.1_Splice_Site_p.N50_splice|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D55G	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATTTAGCCAGATGATGCTTCT	0.423													9	128					0	0	0	0	G	6859811	A	G	6859811	3	3	398	1	0	0	0	0	1	0	0	0	879	333	12	5	174	5	ARHGAP28	18	6859811	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	4131344	6859811	71217437	144	76595											
AQP4	361	broad.mit.edu	37	chr18	24441157	24441157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctattgagccagtgacatCagtccgtttggaatcacagc	11	10	10	10	1	2	2	2	2	0	0	3	3	3	3	2	1	3	2	2	1	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:24441157C>G	ENST00000383168.4	-	3	678	c.550G>C	c.(550-552)Gat>Cat	p.D184H	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.D162H|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.D162H|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	184					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			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)					CCAGTGACATCAGTCCGTTTG	0.388													10	79					0	0	0	0	G	24441157	C	G	24441157	3	3	398	1	0	0	0	0	1	0	0	0	830	826	29	2	433	2	AQP4	18	24441157	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	17581346	24441157	53636091	145	76596											
CBLN2	147381	broad.mit.edu	37	chr18	70205525	70205525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccatgagcagcagcacGccattgctagcagcttctct	8	11	8	14	1	1	1	0	1	1	0	3	1	2	1	2	0	6	6	2	0	1	4	rs149543931		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:70205525G>A	ENST00000269503.4	-	5	1334	c.561C>T	c.(559-561)ggC>ggT	p.G187G	CBLN2_ENST00000581073.1_Silent_p.G73G|CBLN2_ENST00000585159.1_Silent_p.G187G|CBLN2_ENST00000584764.1_Silent_p.G71G|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	187	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCAGCAGCACGCCATTGCTAG	0.507													15	78					0	0	0	0	A	70205525	G	A	70205525	2	1	398	1	0	0	0	0	0	0	0	1	2730	1074	38	1		1	CBLN2	18	70205525	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	45764368	70205525	7871723	146	76597											
THEG	51298	broad.mit.edu	37	chr19	362245	362246	+	Frame_Shift_Ins	INS	-	-	G																															acttttctggtgatgcttttINSgggggtggcaagctcataga																										TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:362245_362246insG	ENST00000342640.4	-	8	1136_1137	c.1094_1095insC	c.(1093-1095)caafs	p.Q365fs	THEG_ENST00000346878.2_Frame_Shift_Ins_p.Q341fs	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	365					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGATGCTTTTGGGGGTGGCAA	0.584													13	141	---	---	---	---					G	362246	-	G	362245	7	5	398	1	0	1	1	0	0	0	0	0	15951	1799	63	0	48	0	THEG	19	362245	Frame_Shift_Ins	INS	-	TCGA-F7-8489-01A-31D-2394-08		362245	58766738	147	76598											
GRIN3B	116444	broad.mit.edu	37	chr19	1005279	1005279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgcgctcttcctcacCgtgtacgagtggcgtagccc	5	9	10	17	5	3	0	2	0	1	0	4	1	4	0	4	1	2	3	4	1	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:1005279C>T	ENST00000234389.3	+	3	1798	c.1779C>T	c.(1777-1779)acC>acT	p.T593T		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	593					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TCTTCCTCACCGTGTACGAGT	0.662													11	67					0	0	0	0	T	1005279	C	T	1005279	2	4	398	1	0	0	0	0	0	0	0	1	6834	639	23	1		1	GRIN3B	19	1005279	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08	643034	1005279	58123704	148	76599											
OR7D4	125958	broad.mit.edu	37	chr19	9324827	9324827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacttgcccttggtggaGgacattcccattaaggagga	9	12	12	8	0	0	0	0	0	0	0	1	4	1	4	2	5	2	1	2	5	2	6			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:9324827G>A	ENST00000308682.2	-	1	715	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCTTGGTGGAGGACATTCCCA	0.502													4	69					0	0	0	0	A	9324827	G	A	9324827	2	1	398	1	0	0	0	0	0	0	0	1	11291	987	35	4		4	OR7D4	19	9324827	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	8319548	9324827	49804156	149	76600											
CC2D1A	54862	broad.mit.edu	37	chr19	14034231	14034231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggaggccgcccggcgctAtggtgaactcaccaagctca	9	6	12	14	3	3	1	3	1	0	0	3	2	3	2	3	4	2	2	3	4	3	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:14034231A>G	ENST00000318003.7	+	15	1968	c.1727A>G	c.(1726-1728)tAt>tGt	p.Y576C	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y576C	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	576					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCCGGCGCTATGGTGAACTC	0.682													9	88					0	0	0	0	G	14034231	A	G	14034231	3	3	398	1	0	0	0	0	1	0	0	0	2751	449	16	5	1785	5	CC2D1A	19	14034231	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	4709404	14034231	45094752	150	76601											
KIAA0355	9710	broad.mit.edu	37	chr19	34791586	34791586	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccatgccatgccccacActactcctatcgccgacatc	9	7	5	20	2	0	0	0	0	0	0	3	1	1	0	7	0	3	0	7	0	2	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:34791586A>C	ENST00000299505.6	+	2	1081	c.208A>C	c.(208-210)Act>Cct	p.T70P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	70										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CATGCCCCACACTACTCCTAT	0.622													13	62					0	0	0	0	C	34791586	A	C	34791586	3	2	398	1	0	0	0	0	1	0	0	0	8221	159	6	5	210	5	KIAA0355	19	34791586	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	20757355	34791586	24337397	151	76602											
ZNF567	163081	broad.mit.edu	37	chr19	37211472	37211472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaactcacacaggtgagaaaCcctatgtttgtaatgagtgt	13	11	10	7	0	1	2	1	2	0	1	1	4	1	2	1	1	2	2	1	1	4	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:37211472C>T	ENST00000585696.1	+	3	2983	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.P616S|ZNF567_ENST00000360729.4_Missense_Mutation_p.P585S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGGTGAGAAACCCTATGTTTG	0.373													5	33					0	0	0	0	T	37211472	C	T	37211472	3	4	398	1	0	0	0	0	1	0	0	0	18093	507	18	4	1763	4	ZNF567	19	37211472	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	2419886	37211472	21917511	152	76603											
ALDH16A1	126133	broad.mit.edu	37	chr19	49967959	49967959	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctccaagaacctgaactAtgacacctttggcctcgctg	9	10	7	15	1	1	3	0	2	1	1	3	3	1	3	5	1	2	1	5	1	4	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:49967959A>T	ENST00000293350.4	+	12	1671	c.1508A>T	c.(1507-1509)tAt>tTt	p.Y503F	CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.Y338F|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.Y340F|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.Y452F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	503							oxidoreductase activity|protein binding	p.Y503C(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AACCTGAACTATGACACCTTT	0.622													29	227					0	0	0	0	T	49967959	A	T	49967959	3	4	398	1	0	0	0	0	1	0	0	0	488	449	16	5	1554	5	ALDH16A1	19	49967959	Missense_Mutation	SNP	A	TCGA-F7-8489-01A-31D-2394-08	12756487	49967959	9161024	153	76604											
ZNF600	162966	broad.mit.edu	37	chr19	53269576	53269576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggaatgacacgcaaaaGccttgtcacaaaccttacat	16	8	7	10	1	1	1	1	1	0	0	1	3	1	2	2	1	3	1	2	1	6	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:53269576G>C	ENST00000338230.3	-	3	1700	c.1433C>G	c.(1432-1434)gCt>gGt	p.A478G		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACACGCAAAAGCCTTGTCACA	0.408													16	196					0	0	0	0	C	53269576	G	C	53269576	3	2	398	1	0	0	0	0	1	0	0	0	18125	971	34	4	739	4	ZNF600	19	53269576	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	3301617	53269576	5859407	154	76605											
DYRK1A	1859	broad.mit.edu	37	chr21	38853090	38853090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaaagtggatggatcgttacGaaattgactccttgataggc	13	11	11	6	2	0	2	0	2	0	0	2	5	1	4	1	3	1	1	1	3	5	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr21:38853090G>C	ENST00000339659.3	+	4	1921	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q	DYRK1A_ENST00000321219.8_Missense_Mutation_p.E160Q|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E160Q|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000451934.1_Missense_Mutation_p.E160Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	160					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E160K(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGATCGTTACGAAATTGACTC	0.333													9	42					0	0	0	0	C	38853090	G	C	38853090	3	2	398	1	0	0	0	0	1	0	0	0	4890	1059	37	3	492	3	DYRK1A	21	38853090	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08		38853090	9276805	155	76606											
PPIL2	23759	broad.mit.edu	37	chr22	22035640	22035640	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaccaacaacacccacatCgtggctgtgaggacgaccgg	11	6	10	14	3	1	1	1	1	0	0	2	3	1	2	3	3	2	1	3	3	2	1			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:22035640C>T	ENST00000406385.1	+	7	408	c.348C>T	c.(346-348)atC>atT	p.I116I	PPIL2_ENST00000335025.7_Silent_p.I116I|PPIL2_ENST00000412327.1_Silent_p.I116I|PPIL2_ENST00000456792.2_Silent_p.I95I|PPIL2_ENST00000492445.2_Silent_p.I116I|PPIL2_ENST00000398831.3_Silent_p.I116I			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	116					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACACCCACATCGTGGCTGTGA	0.597													7	63					0	0	0	0	T	22035640	C	T	22035640	2	4	398	1	0	0	0	0	0	0	0	1	12403	874	31	1		1	PPIL2	22	22035640	Silent	SNP	C	TCGA-F7-8489-01A-31D-2394-08		22035640	29268926	156	76607											
PRAME	23532	broad.mit.edu	37	chr22	22892727	22892727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgatgagagttcttcCgtaaatccagcacttgaagt	11	12	9	9	1	1	3	0	3	1	1	4	4	4	3	3	0	1	3	3	0	3	4			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:22892727C>T	ENST00000543184.1	-	4	1236	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	PRAME_ENST00000424204.2_Missense_Mutation_p.R109Q|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000405655.3_Missense_Mutation_p.R125Q|PRAME_ENST00000398743.2_Missense_Mutation_p.R125Q|PRAME_ENST00000398741.1_Missense_Mutation_p.R125Q|PRAME_ENST00000539862.1_Missense_Mutation_p.R109Q|PRAME_ENST00000402697.1_Missense_Mutation_p.R125Q	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	125					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGAGTTCTTCCGTAAATCCAG	0.453													5	84					0	0	0	0	T	22892727	C	T	22892727	3	4	398	1	0	0	0	0	1	0	0	0	12500	652	23	1	1163	1	PRAME	22	22892727	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	857087	22892727	28411839	157	76608											
RRP7A	27341	broad.mit.edu	37	chr22	42912067	42912067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgactcctttgggctctCagccaggtccggcttctcct	3	13	9	16	1	2	1	1	1	2	0	6	1	4	1	5	3	1	2	5	3	0	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:42912067C>G	ENST00000323013.6	-	3	307	c.292G>C	c.(292-294)Gag>Cag	p.E98Q		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	98							nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						TTTGGGCTCTCAGCCAGGTCC	0.627													9	44					0	0	0	0	G	42912067	C	G	42912067	3	3	398	1	0	0	0	0	1	0	0	0	13774	835	29	2	570	2	RRP7A	22	42912067	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	20019340	42912067	8392499	158	76609											
MAPK11	5600	broad.mit.edu	37	chr22	50704717	50704717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccacttccatgatgcGcttcagctggtcaatgtctg	7	11	9	14	1	3	1	2	1	1	0	4	1	4	1	3	1	2	2	3	1	1	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:50704717G>A	ENST00000330651.6	-	9	800	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	MAPK11_ENST00000449719.2_3'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	234	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCATGATGCGCTTCAGCTGG	0.612													3	16					0	0	0	0	A	50704717	G	A	50704717	3	1	398	1	0	0	0	0	1	0	0	0	9342	1087	38	1	410	1	MAPK11	22	50704717	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	7792650	50704717	599849	159	76610											
ARHGAP6	395	broad.mit.edu	37	chrX	11308556	11308556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgtgtatcggaattcaTcggtggttttgtgcctaaga	9	14	12	6	3	1	1	1	0	0	1	3	3	1	2	1	3	1	2	1	3	3	5			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:11308556T>C	ENST00000380732.3	-	2	630	c.631A>G	c.(631-633)Atg>Gtg	p.M211V	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	196					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCGGAATTCATCGGTGGTTTT	0.388													12	54					0	0	0	0	C	11308556	T	C	11308556	3	2	398	1	0	0	0	0	1	0	0	0	889	1450	50	5		5	ARHGAP6	23	11308556	Missense_Mutation	SNP	T	TCGA-F7-8489-01A-31D-2394-08		11308556	143962004	160	76611											
GPRASP2	114928	broad.mit.edu	37	chrX	101971752	101971752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttaattatccatcctCtagagttaggacaagttttt	10	17	6	8	0	1	1	0	0	1	1	3	2	3	2	2	1	1	3	2	1	5	7			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:101971752C>A	ENST00000543253.1	+	5	2874	c.1955C>A	c.(1954-1956)tCt>tAt	p.S652Y	GPRASP2_ENST00000535209.1_Missense_Mutation_p.S652Y|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S652Y	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TATCCATCCTCTAGAGTTAGG	0.368													4	48					0.00909568	0.00954058	1	0	A	101971752	C	A	101971752	3	1	398	1	0	0	0	0	1	0	0	0	6773	913	32	2	1957	2	GPRASP2	23	101971752	Missense_Mutation	SNP	C	TCGA-F7-8489-01A-31D-2394-08	90663196	101971752	53298808	161	76612											
PAK3	5063	broad.mit.edu	37	chrX	110385355	110385355	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggagaaagagcgcccagaGatctctcttccttcagactt	12	9	9	11	1	3	4	1	0	2	4	5	6	4	4	2	1	1	0	2	1	2	3			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:110385355G>A	ENST00000519681.1	+	6	649	c.207G>A	c.(205-207)gaG>gaA	p.E69E	PAK3_ENST00000417227.1_Silent_p.E69E|PAK3_ENST00000360648.4_Silent_p.E69E|PAK3_ENST00000518291.1_Silent_p.E69E|PAK3_ENST00000372010.1_Silent_p.E69E|PAK3_ENST00000262836.4_Silent_p.E69E|PAK3_ENST00000446737.1_Silent_p.E69E|PAK3_ENST00000425146.1_Silent_p.E69E|PAK3_ENST00000372007.4_Silent_p.E69E			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	69	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGCGCCCAGAGATCTCTCTTC	0.408										TSP Lung(19;0.15)			23	63					0	0	0	0	A	110385355	G	A	110385355	2	1	398	1	0	0	0	0	0	0	0	1	11473	933	33	2		2	PAK3	23	110385355	Silent	SNP	G	TCGA-F7-8489-01A-31D-2394-08	8413603	110385355	44885205	162	76613											
ACTRT1	139741	broad.mit.edu	37	chrX	127185370	127185370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accatttttgagagtcctggGctgtggatgcccagctggtc	6	12	13	10	0	0	1	0	1	0	1	2	3	1	2	3	3	2	2	3	3	0	2			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:127185370G>C	ENST00000371124.3	-	1	1012	c.816C>G	c.(814-816)agC>agG	p.S272R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	272						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGAGTCCTGGGCTGTGGATGC	0.512													12	104					0	0	0	0	C	127185370	G	C	127185370	3	2	398	1	0	0	0	0	1	0	0	0	218	1194	42	4	318	4	ACTRT1	23	127185370	Missense_Mutation	SNP	G	TCGA-F7-8489-01A-31D-2394-08	16800015	127185370	28085190	163	76614											
PRDM16	63976	broad.mit.edu	37	chr1	3335245	3335245	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtactgtgggaagaTcttccccagatcagccaatc	10	8	9	14	0	2	2	1	0	1	2	4	3	3	3	5	2	2	1	5	2	3	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:3335245T>G	ENST00000378398.3	+	13	2958	c.2876T>G	c.(2875-2877)aTc>aGc	p.I959S	PRDM16_ENST00000514189.1_Missense_Mutation_p.I959S|PRDM16_ENST00000442529.2_Missense_Mutation_p.I958S|PRDM16_ENST00000441472.2_Missense_Mutation_p.I958S|PRDM16_ENST00000378391.2_Missense_Mutation_p.I959S|PRDM16_ENST00000511072.1_Missense_Mutation_p.I960S|PRDM16_ENST00000270722.5_Missense_Mutation_p.I959S|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	959	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGTGGGAAGATCTTCCCCAGA	0.607			T	EVI1	"MDS, AML"								11	54					0	0	0	0	G	3335245	T	G	3335245	3	3	399	1	0	0	0	0	1	0	0	0	12537	1435	50	5	2922	5	PRDM16	1	3335245	Missense_Mutation	SNP	T	TCGA-F7-A50G-01A-11D-A25Y-08		3335245	245915376	1	76615											
CAPZB	832	broad.mit.edu	37	chr1	19712105	19712105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagaagacaggagatcctCacatagactggggacctggc	14	5	12	10	0	1	4	1	0	0	4	2	6	2	5	2	4	1	0	2	4	3	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:19712105C>T	ENST00000264203.3	-	4	680	c.187G>A	c.(187-189)Gag>Aag	p.E63K	CAPZB_ENST00000433834.1_Missense_Mutation_p.E66K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000401084.2_Missense_Mutation_p.E37K|CAPZB_ENST00000375142.1_Missense_Mutation_p.E37K|CAPZB_ENST00000264202.6_Missense_Mutation_p.E37K|CAPZB_ENST00000375144.1_Missense_Mutation_p.E25K			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	37					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		AGGAGATCCTCACATAGACTG	0.478													15	65					0	0	0	0	T	19712105	C	T	19712105	3	4	399	1	0	0	0	0	1	0	0	0	2668	835	29	2	737	2	CAPZB	1	19712105	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	16376860	19712105	229538516	2	76616											
HTR6	3362	broad.mit.edu	37	chr1	20005587	20005587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgccaggccagcctggcctCgccatcactgcgcacctctc	5	6	10	20	3	2	0	1	0	1	0	4	0	2	0	6	2	2	1	6	2	0	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:20005587C>T	ENST00000289753.1	+	3	1516	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	350					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	AGCCTGGCCTCGCCATCACTG	0.687													18	64					0	0	0	0	T	20005587	C	T	20005587	3	4	399	1	0	0	0	0	1	0	0	0	7504	893	31	1	1059	1	HTR6	1	20005587	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	293482	20005587	229245034	3	76617											
HSPG2	3339	broad.mit.edu	37	chr1	22178122	22178122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcaccacgcagttcagatCcagggtctgcccttccgcca	7	7	11	16	2	2	1	1	0	1	1	4	1	4	1	5	2	1	3	5	2	0	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:22178122C>T	ENST00000374695.3	-	55	7154	c.7075G>A	c.(7075-7077)Gat>Aat	p.D2359N	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2359	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGTTCAGATCCAGGGTCTGC	0.667													22	137					0	0	0	0	T	22178122	C	T	22178122	3	4	399	1	0	0	0	0	1	0	0	0	7483	855	30	2	6272	2	HSPG2	1	22178122	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	2172535	22178122	227072499	4	76618											
TCEB3	6924	broad.mit.edu	37	chr1	24078328	24078328	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtcttttgaatcctacctCagctatgaccagccccggaa	10	11	7	13	1	2	2	1	2	1	0	3	3	3	3	5	1	3	1	5	1	4	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:24078328C>G	ENST00000418390.2	+	4	1582	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	437					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATCCTACCTCAGCTATGACC	0.428											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	238					0	0	0	0	G	24078328	C	G	24078328	2	3	399	1	0	0	0	0	0	0	0	1	15775	813	29	2		2	TCEB3	1	24078328	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	1900206	24078328	225172293	5	76619											
EXTL1	2134	broad.mit.edu	37	chr1	26360198	26360198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccccaggtggactttgcCtttctggtgtggcagagctt	4	13	12	12	0	1	1	0	0	1	1	2	2	2	2	4	4	2	2	4	4	0	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:26360198C>T	ENST00000374280.3	+	9	2397	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	510					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACTTTGCCTTTCTGGTGT	0.597													26	144					0	0	0	0	T	26360198	C	T	26360198	2	4	399	1	0	0	0	0	0	0	0	1	5363	668	24	4		4	EXTL1	1	26360198	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	2281870	26360198	222890423	6	76620											
SYTL1	84958	broad.mit.edu	37	chr1	27676954	27676954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaacggaatctgaatcCggttttcaacgagactctcc	13	9	9	10	3	3	3	1	1	2	2	5	6	4	4	2	2	2	1	2	2	5	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:27676954C>T	ENST00000543823.1	+	9	1445	c.983C>T	c.(982-984)cCg>cTg	p.P328L	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.P316L			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	328	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCTGAATCCGGTTTTCAAC	0.592													21	97					0	0	0	0	T	27676954	C	T	27676954	3	4	399	1	0	0	0	0	1	0	0	0	15573	652	23	1	981	1	SYTL1	1	27676954	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	1316756	27676954	221573667	7	76621											
KIAA0319L	79932	broad.mit.edu	37	chr1	35900555	35900555	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcccgttgggtacagaGccattctgaccatgcaggag	8	9	13	11	1	2	2	0	1	2	1	2	3	2	3	3	2	4	3	3	2	1	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:35900555G>C	ENST00000325722.3	-	21	3324	c.3090C>G	c.(3088-3090)ggC>ggG	p.G1030G	KIAA0319L_ENST00000373266.4_Silent_p.G467G	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1030						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGGTACAGAGCCATTCTGAC	0.607													21	55					0	0	0	0	C	35900555	G	C	35900555	2	2	399	1	0	0	0	0	0	0	0	1	8220	958	34	4		4	KIAA0319L	1	35900555	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	8223601	35900555	213350066	8	76622											
DHCR24	1718	broad.mit.edu	37	chr1	55337057	55337057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctgtcatgacccctGtcataatgacagcctcatcc	9	11	5	16	0	5	2	4	2	1	0	6	2	6	2	5	0	1	0	5	0	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:55337057G>A	ENST00000371269.3	-	5	940	c.842C>T	c.(841-843)aCa>aTa	p.T281I	DHCR24_ENST00000535035.1_Missense_Mutation_p.T240I|DHCR24_ENST00000537443.1_Missense_Mutation_p.T113I	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	281					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CATGACCCCTGTCATAATGAC	0.587													11	55					0	0	0	0	A	55337057	G	A	55337057	3	1	399	1	0	0	0	0	1	0	0	0	4513	1377	48	4	728	4	DHCR24	1	55337057	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	19436502	55337057	193913564	9	76623											
LPPR4	9890	broad.mit.edu	37	chr1	99771528	99771528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcagcaataccttgccGcgagccaataccccatctgt	10	9	6	16	2	2	0	1	0	1	0	2	1	2	0	6	0	5	1	6	0	4	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:99771528G>A	ENST00000370185.3	+	7	1751	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P	LPPR4_ENST00000370184.1_Silent_p.P260P|LPPR4_ENST00000457765.1_Silent_p.P360P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418							phosphatidate phosphatase activity	p.P418P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATACCTTGCCGCGAGCCAATA	0.498													25	57					0	0	0	0	A	99771528	G	A	99771528	2	1	399	1	0	0	0	0	0	0	0	1	8991	1074	38	1		1	LPPR4	1	99771528	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	44434471	99771528	149479093	10	76624											
CELSR2	1952	broad.mit.edu	37	chr1	109810195	109810195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcgccactgtgatgaGcacagggggtggctcccccc	5	7	15	14	1	0	2	0	2	0	0	1	2	1	2	4	3	2	3	4	3	0	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:109810195G>A	ENST00000271332.3	+	16	6100	c.6039G>A	c.(6037-6039)gaG>gaA	p.E2013E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2013					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACTGTGATGAGCACAGGGGGT	0.587													12	80					0	0	0	0	A	109810195	G	A	109810195	2	1	399	1	0	0	0	0	0	0	0	1	3251	962	34	4		4	CELSR2	1	109810195	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	10038667	109810195	139440426	11	76625											
RBM8A	9939	broad.mit.edu	37	chr1	145508277	145508277	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgatgaacccggaccAcaacgctgtgagtaataatg	13	7	12	9	3	0	2	0	2	0	0	0	5	0	3	2	2	2	2	2	2	4	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:145508277A>T	ENST00000330165.7	+	3	267	c.198A>T	c.(196-198)ccA>ccT	p.P66P	RP11-315I20.1_ENST00000596355.1_RNA|RBM8A_ENST00000369307.3_Silent_p.P65P|RP11-315I20.1_ENST00000447686.2_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	66					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCCGGACCACAACGCTGTG	0.488													12	78					0	0	0	0	T	145508277	A	T	145508277	2	4	399	1	0	0	0	0	0	0	0	1	13228	146	6	5		5	RBM8A	1	145508277	Silent	SNP	A	TCGA-F7-A50G-01A-11D-A25Y-08	35698082	145508277	103742344	12	76626											
SLAMF9	89886	broad.mit.edu	37	chr1	159922091	159922091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatggggcaagaactgaCgttgctgatggggttgttgg	8	10	19	4	1	0	3	0	2	0	1	0	4	0	4	0	6	2	5	0	6	2	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:159922091C>T	ENST00000368093.3	-	3	741	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	209	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGAACTGACGTTGCTGATG	0.567													13	99					0	0	0	0	T	159922091	C	T	159922091	3	4	399	1	0	0	0	0	1	0	0	0	14459	536	19	1	252	1	SLAMF9	1	159922091	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	14413814	159922091	89328530	13	76627											
SLC19A2	10560	broad.mit.edu	37	chr1	169437407	169437407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaattagagtgagcagcGtctgcagtgccagggcaatg	11	7	13	10	1	1	2	0	1	1	1	1	2	1	2	2	1	4	3	2	1	3	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:169437407G>A	ENST00000236137.5	-	5	1543	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	SLC19A2_ENST00000367804.3_Missense_Mutation_p.T235M|SLC19A2_ENST00000367802.3_Missense_Mutation_p.T398M	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	436					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.T436M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AGTGAGCAGCGTCTGCAGTGC	0.418													5	65					0	0	0	0	A	169437407	G	A	169437407	3	1	399	1	0	0	0	0	1	0	0	0	14517	1145	40	1	194	1	SLC19A2	1	169437407	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	9515316	169437407	79813214	14	76628											
TPR	7175	broad.mit.edu	37	chr1	186329077	186329077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttattaattcttttgttctCtagtttctccaaaagcaact	10	19	3	9	0	3	0	0	0	3	0	5	0	3	0	1	0	2	3	1	0	6	8			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:186329077C>G	ENST00000367478.3	-	12	1539	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	415					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTTTGTTCTCTAGTTTCTCC	0.373			T	NTRK1	papillary thyroid								6	39					0	0	0	0	G	186329077	C	G	186329077	3	3	399	1	0	0	0	0	1	0	0	0	16511	922	32	2	6008	2	TPR	1	186329077	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	16891670	186329077	62921544	15	76629											
PTPRC	5788	broad.mit.edu	37	chr1	198668738	198668738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccttcccacgcacgcagactCgcagacgccctctgctggaa	8	6	9	18	4	1	2	0	0	1	2	3	3	2	3	3	1	1	4	3	1	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:198668738C>G	ENST00000367376.2	+	5	509	c.338C>G	c.(337-339)tCg>tGg	p.S113W	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.S113W|PTPRC_ENST00000442510.2_Missense_Mutation_p.S115W|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	113					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CACGCAGACTCGCAGACGCCC	0.532											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	192					0	0	0	0	G	198668738	C	G	198668738	3	3	399	1	0	0	0	0	1	0	0	0	12879	893	31	3	363	3	PTPRC	1	198668738	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	12339661	198668738	50581883	16	76630											
FMN2	56776	broad.mit.edu	37	chr1	240370960	240370960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccgccccctctacccGgagcggcaataccccctccg	5	6	7	23	4	1	0	0	0	1	0	4	1	4	1	8	2	3	1	8	2	3	2	rs6143701		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr1:240370960G>A	ENST00000319653.9	+	5	3078	c.2848G>A	c.(2848-2850)Gga>Aga	p.G950R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	950	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGCAAT	0.697													8	75					0	0	0	0	A	240370960	G	A	240370960	3	1	399	1	0	0	0	0	1	0	0	0	5995	1117	39	1	2866	1	FMN2	1	240370960	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	41702222	240370960	8879661	17	76631											
ROCK2	9475	broad.mit.edu	37	chr2	11341164	11341164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctccagctctttcatgatCttctctttttccaaatcaga	9	17	3	12	0	6	2	2	1	4	1	9	2	7	2	2	0	1	1	2	0	1	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr2:11341164C>T	ENST00000315872.6	-	23	3277	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	ROCK2_ENST00000401753.1_Silent_p.K700K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	943					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCATGATCTTCTCTTTTT	0.413													45	95					0	0	0	0	T	11341164	C	T	11341164	2	4	399	1	0	0	0	0	0	0	0	1	13603	912	32	2		2	ROCK2	2	11341164	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		11341164	231858209	18	76632											
APOB	338	broad.mit.edu	37	chr2	21245909	21245909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgccaccagttcagcCtgcatctataagtcagaaaa	12	11	8	10	0	3	1	2	0	1	1	3	1	3	1	3	1	3	3	3	1	4	5			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr2:21245909C>T	ENST00000233242.1	-	18	2737	c.2610G>A	c.(2608-2610)caG>caA	p.Q870Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	870					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGTTCAGCCTGCATCTATA	0.468													16	68					0	0	0	0	T	21245909	C	T	21245909	2	4	399	1	0	0	0	0	0	0	0	1	787	680	24	4		4	APOB	2	21245909	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	9904745	21245909	221953464	19	76633											
EML4	27436	broad.mit.edu	37	chr2	42553383	42553383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacctgtgtgctaggatttCaagtatttggtaaggaaatg	12	14	11	4	0	1	0	1	0	0	0	1	2	1	2	1	3	2	3	1	3	6	6			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr2:42553383C>G	ENST00000318522.5	+	21	2594	c.2332C>G	c.(2332-2334)Caa>Gaa	p.Q778E	EML4_ENST00000402711.2_Missense_Mutation_p.Q720E|EML4_ENST00000453191.2_Missense_Mutation_p.Q42E|EML4_ENST00000401738.3_Missense_Mutation_p.Q789E	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	778					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCTAGGATTTCAAGTATTTGG	0.323			T	ALK	NSCLC								13	88					0	0	0	0	G	42553383	C	G	42553383	3	3	399	1	0	0	0	0	1	0	0	0	5137	827	29	2	2414	2	EML4	2	42553383	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	21307474	42553383	200645990	20	76634											
PNPT1	87178	broad.mit.edu	37	chr2	55920943	55920943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggaggcacgagcagcagtAcctgcaggccgccatgacac	10	3	13	15	3	0	1	0	1	0	0	0	3	0	2	4	3	4	5	4	3	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr2:55920943A>G	ENST00000447944.2	-	1	102	c.16T>C	c.(16-18)Tac>Cac	p.Y6H		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	6					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGCAGCAGTACCTGCAGGCC	0.652													13	67					0	0	0	0	G	55920943	A	G	55920943	3	3	399	1	0	0	0	0	1	0	0	0	12245	391	14	5	2447	5	PNPT1	2	55920943	Missense_Mutation	SNP	A	TCGA-F7-A50G-01A-11D-A25Y-08	13367560	55920943	187278430	21	76635											
EHBP1	23301	broad.mit.edu	37	chr2	63086364	63086364	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacttggccaccgtgaattCaaatccatttgatgatcctg	10	12	9	10	1	1	3	1	3	0	0	3	4	3	4	4	2	0	0	4	2	2	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr2:63086364C>G	ENST00000263991.5	+	9	1282	c.800C>G	c.(799-801)tCa>tGa	p.S267*	EHBP1_ENST00000405289.1_Nonsense_Mutation_p.S232*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.S232*|EHBP1_ENST00000354487.3_Nonsense_Mutation_p.S232*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.S232*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	267						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCGTGAATTCAAATCCATTT	0.348													17	52					0	0	0	0	G	63086364	C	G	63086364	4	3	399	1	0	0	0	0	0	1	0	0	5011	838	29	2	830	2	EHBP1	2	63086364	Nonsense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	7165421	63086364	180113009	22	76636											
MYO3B	140469	broad.mit.edu	37	chr2	171240310	171240310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccagtgcatggttactCtcagcaaagaccaggtaaga	13	9	9	10	0	1	2	1	0	1	2	2	2	1	2	2	2	4	4	2	2	4	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr2:171240310C>G	ENST00000334231.6	+	12	1303	c.1303C>G	c.(1303-1305)Ctc>Gtc	p.L435V	MYO3B_ENST00000409044.3_Missense_Mutation_p.L426V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L426V|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	426	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CATGGTTACTCTCAGCAAAGA	0.478													14	59					0	0	0	0	G	171240310	C	G	171240310	3	3	399	1	0	0	0	0	1	0	0	0	10147	913	32	2	1322	2	MYO3B	2	171240310	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	108153946	171240310	71959063	23	76637											
TTN	7273	broad.mit.edu	37	chr2	179537198	179537198	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctgggactttctttggTacttcaggcactttaaagat	8	18	8	7	0	3	1	1	0	2	1	3	2	3	2	0	3	1	2	0	3	3	8			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr2:179537198T>C	ENST00000589042.1	-	154	35090	c.34866A>G	c.(34864-34866)gtA>gtG	p.V11622V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.V11248V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V10321V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11455	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCTTTGGTACTTCAGGCA	0.373													40	181					0	0	0	0	C	179537198	T	C	179537198	2	2	399	1	0	0	0	0	0	0	0	1	16831	1625	57	5		5	TTN	2	179537198	Silent	SNP	T	TCGA-F7-A50G-01A-11D-A25Y-08	8296888	179537198	63662175	24	76638											
ITPR1	3708	broad.mit.edu	37	chr3	4774816	4774816	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaccgttactatggaaaCgtcagaccttcgggacgaag	12	8	11	10	4	2	1	2	0	0	1	3	4	2	3	2	2	3	1	2	2	5	3	rs61757111		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr3:4774816C>T	ENST00000302640.8	+	42	5570	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	ITPR1_ENST00000456211.2_Silent_p.N1692N|ITPR1_ENST00000443694.2_Silent_p.N1740N|ITPR1_ENST00000357086.4_Silent_p.N1707N|ITPR1_ENST00000354582.6_Silent_p.N1740N|ITPR1_ENST00000423119.2_Silent_p.N1707N|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1755					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACTATGGAAACGTCAGACCTT	0.527													7	17					0	0	0	0	T	4774816	C	T	4774816	2	4	399	1	0	0	0	0	0	0	0	1	7973	535	19	1		1	ITPR1	3	4774816	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		4774816	193247614	25	76639											
BSN	8927	broad.mit.edu	37	chr3	49695531	49695531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccatgaagaccctgcagCggtccctgtctgaccctaag	8	7	10	16	1	1	3	0	2	1	1	2	3	2	3	5	1	2	1	5	1	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr3:49695531C>T	ENST00000296452.4	+	5	8656	c.8542C>T	c.(8542-8544)Cgg>Tgg	p.R2848W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2848					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GACCCTGCAGCGGTCCCTGTC	0.627													12	65					0	0	0	0	T	49695531	C	T	49695531	3	4	399	1	0	0	0	0	1	0	0	0	1538	759	27	1	8560	1	BSN	3	49695531	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	44920715	49695531	148326899	26	76640											
ARHGAP31	57514	broad.mit.edu	37	chr3	119112315	119112315	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccttggttcttttaggCgaaagctctccagtaaatca	10	14	8	9	1	3	0	1	0	2	0	4	1	3	0	2	2	2	3	2	2	5	6			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr3:119112315C>T	ENST00000264245.4	+	8	1415	c.881_splice	c.e8-1	p.R295_splice		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	295					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCTTTTAGGCGAAAGCTCTC	0.373													21	115					0	0	0	0	T	119112315	C	T	119112315	5	4	399	1	0	0	0	0	0	0	1	0	882	782	27	1	913	1	ARHGAP31	3	119112315	Splice_Site	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	69416784	119112315	78910115	27	76641											
PIK3CB	5291	broad.mit.edu	37	chr3	138433537	138433537	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacaggagctcagtaccatGaaaaagaccagccctgacat	16	5	8	12	0	1	3	1	2	0	1	1	4	1	4	3	1	3	2	3	1	3	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr3:138433537G>C	ENST00000477593.1	-	8	1148	c.1075C>G	c.(1075-1077)Cat>Gat	p.H359D	PIK3CB_ENST00000289153.2_Missense_Mutation_p.H359D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	359	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCAGTACCATGAAAAAGACCA	0.363													14	154					0	0	0	0	C	138433537	G	C	138433537	3	2	399	1	0	0	0	0	1	0	0	0	11986	1290	45	2	2199	2	PIK3CB	3	138433537	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	19321222	138433537	59588893	28	76642											
LPP	4026	broad.mit.edu	37	chr3	188584112	188584112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcagcctggatgggaTcccattcactgtggatgctg	7	9	12	13	1	1	0	1	0	0	0	2	3	2	3	4	3	2	2	4	3	0	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr3:188584112T>G	ENST00000312675.4	+	9	1781	c.1535T>G	c.(1534-1536)aTc>aGc	p.I512S	LPP_ENST00000543006.1_Missense_Mutation_p.I512S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	512	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGGATGGGATCCCATTCACT	0.567			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								6	64					0	0	0	0	G	188584112	T	G	188584112	3	3	399	1	0	0	0	0	1	0	0	0	8987	1435	50	5	1561	5	LPP	3	188584112	Missense_Mutation	SNP	T	TCGA-F7-A50G-01A-11D-A25Y-08	50150575	188584112	9438318	29	76643											
KIT	3815	broad.mit.edu	37	chr4	55569941	55569941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacggtgacttcaattatGaacgtcaggcaacgttgact	12	11	9	9	3	3	3	3	3	0	0	3	3	3	3	0	2	2	2	0	2	4	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr4:55569941G>A	ENST00000288135.5	+	5	905	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	270	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAATTATGAACGTCAGGC	0.363		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				11	48					0	0	0	0	A	55569941	G	A	55569941	3	1	399	1	0	0	0	0	1	0	0	0	8381	1291	45	2	826	2	KIT	4	55569941	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08		55569941	135584335	30	76644											
SLC4A4	8671	broad.mit.edu	37	chr4	72352674	72352674	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcttacagctaatatctCaatatctaatgacaccacac	14	13	3	11	0	2	1	1	1	2	0	3	1	2	1	1	0	3	2	1	0	6	6			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr4:72352674C>G	ENST00000340595.3	+	12	1977	c.1781C>G	c.(1780-1782)tCa>tGa	p.S594*	SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.S638*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.S638*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.S638*	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	638						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCTAATATCTCAATATCTAAT	0.299													9	23					0	0	0	0	G	72352674	C	G	72352674	4	3	399	1	0	0	0	0	0	1	0	0	14744	838	29	2	2088	2	SLC4A4	4	72352674	Nonsense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	16782733	72352674	118801602	31	76645											
MEPE	56955	broad.mit.edu	37	chr4	88766758	88766758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttatacagatcttcaagaGagaggggacaatgatatatc	15	10	11	5	0	2	4	1	1	1	3	3	6	2	5	0	3	1	1	0	3	6	5			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr4:88766758G>C	ENST00000497649.2	+	6	1044	c.666G>C	c.(664-666)gaG>gaC	p.E222D	MEPE_ENST00000361056.3_Missense_Mutation_p.E246D|MEPE_ENST00000540395.1_Missense_Mutation_p.E133D|MEPE_ENST00000395102.4_Missense_Mutation_p.E277D|MEPE_ENST00000560249.1_Missense_Mutation_p.E133D|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.E246D			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	246					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATCTTCAAGAGAGAGGGGACA	0.433													14	71					0	0	0	0	C	88766758	G	C	88766758	3	2	399	1	0	0	0	0	1	0	0	0	9547	933	33	2	748	2	MEPE	4	88766758	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	16414084	88766758	102387518	32	76646											
SNCA	6622	broad.mit.edu	37	chr4	90650392	90650392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggatccacaggcatatCttccagaattccttcctgtg	9	12	8	12	0	2	1	1	0	1	1	6	2	6	2	4	2	0	1	4	2	2	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr4:90650392C>A	ENST00000394989.2	-	4	563	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	SNCA_ENST00000505199.1_Missense_Mutation_p.D101Y|SNCA_ENST00000506244.1_Missense_Mutation_p.D115Y|SNCA_ENST00000336904.3_Missense_Mutation_p.D115Y|SNCA_ENST00000394986.1_Missense_Mutation_p.D115Y|SNCA_ENST00000345009.4_Intron|SNCA_ENST00000508895.1_Missense_Mutation_p.D115Y|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000394991.3_Missense_Mutation_p.D115Y			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	115					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	ACAGGCATATCTTCCAGAATT	0.373													8	40					0.00307968	0.00310122	1	0	A	90650392	C	A	90650392	3	1	399	1	0	0	0	0	1	0	0	0	14928	913	32	2	87	2	SNCA	4	90650392	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	1883634	90650392	100503884	33	76647											
ALPK1	80216	broad.mit.edu	37	chr4	113352758	113352758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accccaggcattttcttggcCcctggtgcagggcttctaga	6	11	11	13	0	2	1	0	0	2	1	2	1	2	1	4	4	1	3	4	4	1	5			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr4:113352758C>T	ENST00000458497.1	+	11	2334	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	ALPK1_ENST00000177648.9_Silent_p.A685A|ALPK1_ENST00000504176.2_Silent_p.A607A	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	685							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTTTCTTGGCCCCTGGTGCAG	0.493													5	56					0	0	0	0	T	113352758	C	T	113352758	2	4	399	1	0	0	0	0	0	0	0	1	544	610	22	4		4	ALPK1	4	113352758	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	22702366	113352758	77801518	34	76648											
BBS12	166379	broad.mit.edu	37	chr4	123663151	123663151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcctaggcccactaaaatCatccaaatttattatagatg	14	14	4	9	0	1	1	1	0	0	1	3	1	3	1	3	1	0	0	3	1	7	7			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr4:123663151C>T	ENST00000542236.1	+	3	485	c.104C>T	c.(103-105)tCa>tTa	p.S35L	BBS12_ENST00000314218.3_Missense_Mutation_p.S35L	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	35					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CCACTAAAATCATCCAAATTT	0.383									Bardet-Biedl syndrome				14	58					0	0	0	0	T	123663151	C	T	123663151	3	4	399	1	0	0	0	0	1	0	0	0	1341	838	29	2	106	2	BBS12	4	123663151	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	10310393	123663151	67491125	35	76649											
PALLD	23022	broad.mit.edu	37	chr4	169842828	169842828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtcacgtgatgccggcatCtacacatgtatagctaccaa	12	9	8	12	3	2	1	1	1	1	0	2	1	2	1	2	1	4	3	2	1	5	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr4:169842828C>G	ENST00000335742.7	+	18	3826	c.2469C>G	c.(2467-2469)atC>atG	p.I823M	PALLD_ENST00000507735.1_Missense_Mutation_p.I494M|PALLD_ENST00000261509.6_Missense_Mutation_p.I981M|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Missense_Mutation_p.I998M|PALLD_ENST00000512127.1_Missense_Mutation_p.I599M			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1205	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Interaction with VASP (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATGCCGGCATCTACACATGTA	0.537									Pancreatic Cancer, Familial Clustering of				5	40					0	0	0	0	G	169842828	C	G	169842828	3	3	399	1	0	0	0	0	1	0	0	0	11478	903	32	2	3567	2	PALLD	4	169842828	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	46179677	169842828	21311448	36	76650											
GALNTL6	442117	broad.mit.edu	37	chr4	173730662	173730662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattcctggactcccactGcgaggtcaatgtgaactggc	9	9	11	12	1	1	1	1	1	0	0	3	4	3	2	2	3	2	0	2	3	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr4:173730662G>A	ENST00000506823.1	+	6	1361	c.704G>A	c.(703-705)tGc>tAc	p.C235Y	GALNTL6_ENST00000508122.1_Missense_Mutation_p.C218Y	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	235	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GACTCCCACTGCGAGGTCAAT	0.552													15	43					0	0	0	0	A	173730662	G	A	173730662	3	1	399	1	0	0	0	0	1	0	0	0	6274	1319	46	4	722	4	GALNTL6	4	173730662	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	3887834	173730662	17423614	37	76651											
CTNND2	1501	broad.mit.edu	37	chr5	11346677	11346677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccgcggcggcattctGtgggccgtgctggctgcctg	1	9	19	12	4	1	0	0	0	1	0	1	0	1	0	3	6	2	3	3	6	0	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr5:11346677G>C	ENST00000304623.8	-	9	1624	c.1435C>G	c.(1435-1437)Cag>Gag	p.Q479E	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q142E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q388E|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q46E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q479E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	479					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGGCATTCTGTGGGCCGTGC	0.617													16	92					0	0	0	0	C	11346677	G	C	11346677	3	2	399	1	0	0	0	0	1	0	0	0	4052	1386	48	4	2298	4	CTNND2	5	11346677	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08		11346677	169568583	38	76652											
ARSB	411	broad.mit.edu	37	chr5	78181427	78181427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatggttttccacacgtcGaagccatccagaggctttgt	8	12	10	11	2	0	2	0	1	0	1	3	3	2	2	3	2	1	2	3	2	1	3	rs149886659		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr5:78181427G>A	ENST00000264914.4	-	5	1658	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	ARSB_ENST00000565165.1_Silent_p.F374F|ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000396151.3_Silent_p.F374F	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	374					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TCCACACGTCGAAGCCATCCA	0.542													19	69					0	0	0	0	A	78181427	G	A	78181427	2	1	399	1	0	0	0	0	0	0	0	1	992	1049	37	1		1	ARSB	5	78181427	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	66834750	78181427	102733833	39	76653											
RASGRF2	5924	broad.mit.edu	37	chr5	80508245	80508245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagctcccgtgccaacGccatcgagaaatgggtggca	10	7	12	12	3	1	1	1	0	0	1	3	2	2	1	3	2	3	2	3	2	2	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr5:80508245G>A	ENST00000265080.4	+	23	3284	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1073	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCGTGCCAACGCCATCGAGAA	0.537													3	27					0	0	0	0	A	80508245	G	A	80508245	3	1	399	1	0	0	0	0	1	0	0	0	13155	1087	38	1	3307	1	RASGRF2	5	80508245	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	2326818	80508245	100407015	40	76654											
ARSK	153642	broad.mit.edu	37	chr5	94922369	94922370	+	Frame_Shift_Ins	INS	-	-	A																															aactgcactggaagatttacINSaaaaaaagaaattaagaata																										TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr5:94922369_94922370insA	ENST00000380009.4	+	5	1008_1009	c.803_804insA	c.(802-804)aaafs	p.K268fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	268						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GGAAGATTTACAAAAAAAGAAA	0.337													19	40	---	---	---	---					A	94922370	-	A	94922369	7	5	399	1	0	1	1	0	0	0	0	0	1000	478	17	0	821	0	ARSK	5	94922369	Frame_Shift_Ins	INS	-	TCGA-F7-A50G-01A-11D-A25Y-08	14414124	94922369	85992891	41	76655											
SLC27A6	28965	broad.mit.edu	37	chr5	128324295	128324295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttttcttttcttccaggtCtaccaaaagcagctgtgatt	8	17	6	10	0	4	1	0	1	4	0	5	1	5	1	2	1	3	2	2	1	3	7			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr5:128324295C>G	ENST00000262462.4	+	3	1698	c.688C>G	c.(688-690)Cta>Gta	p.L230V	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L230V|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L230V			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	230					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTTCCAGGTCTACCAAAAGC	0.363													13	76					0	0	0	0	G	128324295	C	G	128324295	3	3	399	1	0	0	0	0	1	0	0	0	14618	912	32	2	698	2	SLC27A6	5	128324295	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	33401926	128324295	52590965	42	76656											
LCP2	3937	broad.mit.edu	37	chr5	169701311	169701311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccatactcacaaaggaCgaccagcccccattgtcctc	12	6	5	18	1	1	0	1	0	0	0	3	2	2	1	5	1	2	0	5	1	2	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr5:169701311C>T	ENST00000046794.5	-	6	933	c.318G>A	c.(316-318)tcG>tcA	p.S106S		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	106					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCACAAAGGACGACCAGCCCC	0.537													6	11					0	0	0	0	T	169701311	C	T	169701311	2	4	399	1	0	0	0	0	0	0	0	1	8745	523	19	1		1	LCP2	5	169701311	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	41377016	169701311	11213949	43	76657											
GRM6	2916	broad.mit.edu	37	chr5	178413416	178413416	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggcccggacgatgggCgtgttgttgtaccgcacgaa	7	7	15	12	6	0	0	0	0	0	0	0	4	0	1	3	3	1	4	3	3	2	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr5:178413416C>T	ENST00000231188.5	-	8	2017	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.T613T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	613					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GGACGATGGGCGTGTTGTTGT	0.677													5	34					0	0	0	0	T	178413416	C	T	178413416	2	4	399	1	0	0	0	0	0	0	0	1	6851	755	27	1		1	GRM6	5	178413416	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	8712105	178413416	2501844	44	76658											
MAML1	9794	broad.mit.edu	37	chr5	179198178	179198178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcagcgccatctgaccCgcccaccaccccagtaccaa	10	6	6	19	2	2	1	1	1	1	0	2	1	2	1	7	0	2	2	7	0	2	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr5:179198178C>T	ENST00000292599.3	+	4	2265	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	668					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCTGACCCGCCCACCACC	0.517													25	68					0	0	0	0	T	179198178	C	T	179198178	3	4	399	1	0	0	0	0	1	0	0	0	9274	652	23	1	2016	1	MAML1	5	179198178	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	784762	179198178	1717082	45	76659											
TNXB	7148	broad.mit.edu	37	chr6	32038185	32038185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctgggctggcgtcacctCgggcaactggagaggaaagg	8	5	16	12	2	1	1	1	0	0	1	2	3	1	2	3	6	1	2	3	6	2	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr6:32038185C>T	ENST00000375244.3	-	14	5198	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	TNXB_ENST00000375247.2_Missense_Mutation_p.R1666Q			P22105	TENX_HUMAN	tenascin XB	1748	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCGTCACCTCGGGCAACTGG	0.602													9	31					0	0	0	0	T	32038185	C	T	32038185	3	4	399	1	0	0	0	0	1	0	0	0	16440	884	31	1	9840	1	TNXB	6	32038185	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		32038185	139076882	46	76660											
RSPH10B	222967	broad.mit.edu	37	chr7	5967840	5967840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttaccttgcttccagttCgtcatcttccatcttccgct	6	16	5	14	2	3	0	1	0	2	0	7	0	6	0	4	0	2	4	4	0	2	6	rs140401316	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr7:5967840C>T	ENST00000405415.1	-	19	2805	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000441023.2_Missense_Mutation_p.E807K|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.E807K|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E807K			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	807										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GCTTCCAGTTCGTCATCTTCC	0.517													23	219					0	0	0	0	T	5967840	C	T	5967840	3	4	399	1	0	0	0	0	1	0	0	0	13788	893	31	1	201	1	RSPH10B	7	5967840	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		5967840	153170823	47	76661											
TNS3	64759	broad.mit.edu	37	chr7	47317713	47317713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatcatgacctttgatacGaagttgacaatggcactggc	12	10	9	10	1	1	3	1	3	0	0	1	4	1	3	2	2	1	2	2	2	4	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr7:47317713G>A	ENST00000398879.1	-	31	4665	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	TNS3_ENST00000311160.9_Silent_p.F1433F|TNS3_ENST00000355730.3_Silent_p.F1193F			Q68CZ2	TENS3_HUMAN	tensin 3	1433						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTTTGATACGAAGTTGACAA	0.572													11	41					0	0	0	0	A	47317713	G	A	47317713	2	1	399	1	0	0	0	0	0	0	0	1	16438	1049	37	1		1	TNS3	7	47317713	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	41349873	47317713	111820950	48	76662											
HEPACAM2	253012	broad.mit.edu	37	chr7	92844792	92844792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagctgtaattcccaatgtCttccttggttactggagcaa	9	13	9	10	0	1	0	0	0	1	0	3	1	3	1	2	2	3	5	2	2	4	5			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr7:92844792C>T	ENST00000394468.2	-	3	714	c.637G>A	c.(637-639)Gac>Aac	p.D213N	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D201N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D201N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D236N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	213	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTCCCAATGTCTTCCTTGGTT	0.403													14	65					0	0	0	0	T	92844792	C	T	92844792	3	4	399	1	0	0	0	0	1	0	0	0	7103	913	32	2	783	2	HEPACAM2	7	92844792	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	45527079	92844792	66293871	49	76663											
RELN	5649	broad.mit.edu	37	chr7	103175930	103175930	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgagtattccaattcaatCgctgaaacaggaaacattat	16	11	6	8	1	1	2	1	2	0	0	3	3	2	3	1	1	2	2	1	1	6	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr7:103175930C>T	ENST00000424685.2	-	46	7341	c.7180_splice	c.e46-1	p.A2394_splice	RELN_ENST00000343529.5_Splice_Site_p.A2394_splice|RELN_ENST00000428762.1_Splice_Site_p.A2394_splice			P78509	RELN_HUMAN	reelin	2394					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAATTCAATCGCTGAAACAG	0.383													7	35					0	0	0	0	T	103175930	C	T	103175930	5	4	399	1	0	0	0	0	0	0	1	0	13302	898	31	1	3280	1	RELN	7	103175930	Splice_Site	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	10331138	103175930	55962733	50	76664											
CPA1	1357	broad.mit.edu	37	chr7	130025070	130025070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggtcaagtccattgtaGactttgtgaaggaccatggg	10	11	14	6	0	1	2	1	1	0	1	2	4	2	4	2	4	0	1	2	4	3	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr7:130025070G>C	ENST00000011292.3	+	8	1021	c.871G>C	c.(871-873)Gac>Cac	p.D291H	CPA1_ENST00000484324.1_Missense_Mutation_p.D203H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	291					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCCATTGTAGACTTTGTGAA	0.537													16	52					0	0	0	0	C	130025070	G	C	130025070	3	2	399	1	0	0	0	0	1	0	0	0	3819	942	33	2	901	2	CPA1	7	130025070	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	26849140	130025070	29113593	51	76665											
KIAA1549	57670	broad.mit.edu	37	chr7	138546052	138546052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccacgagggcaaaggCgtcgtccaggagggagtgca	9	3	20	9	3	0	0	0	0	0	0	2	3	1	2	2	6	1	2	2	6	1	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr7:138546052C>T	ENST00000440172.1	-	16	5128	c.5080G>A	c.(5080-5082)Gcc>Acc	p.A1694T	KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1694T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1644T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1694						integral to membrane		p.A1644S(1)|p.A1694S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGGCAAAGGCGTCGTCCAGG	0.697			O	BRAF	pilocytic astrocytoma								21	61					0	0	0	0	T	138546052	C	T	138546052	3	4	399	1	0	0	0	0	1	0	0	0	8295	768	27	1	792	1	KIAA1549	7	138546052	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	8520982	138546052	20592611	52	76666											
ERLIN2	11160	broad.mit.edu	37	chr8	37610986	37610986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgcatttctggcccGggagaaggcaaaggcagatg	11	7	15	8	1	1	3	0	0	1	3	1	4	1	3	1	4	2	4	1	4	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr8:37610986G>A	ENST00000276461.5	+	11	825	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	ERLIN2_ENST00000519638.1_Missense_Mutation_p.R253Q	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	253	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TTTCTGGCCCGGGAGAAGGCA	0.498													10	36					0	0	0	0	A	37610986	G	A	37610986	3	1	399	1	0	0	0	0	1	0	0	0	5271	1116	39	1	835	1	ERLIN2	8	37610986	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08		37610986	108753036	53	76667											
CYP7B1	9420	broad.mit.edu	37	chr8	65509365	65509365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccataagtgcaaaaaatCggcctggacatttgctggtt	11	13	9	8	1	0	0	0	0	0	0	2	1	1	1	2	3	2	3	2	3	4	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr8:65509365C>T	ENST00000310193.3	-	6	1528	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	452					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCAAAAAATCGGCCTGGACA	0.343													6	49					0	0	0	0	T	65509365	C	T	65509365	3	4	399	1	0	0	0	0	1	0	0	0	4229	884	31	1	169	1	CYP7B1	8	65509365	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	27898379	65509365	80854657	54	76668											
RGS22	26166	broad.mit.edu	37	chr8	101051204	101051204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgaagtgtttcttggtaGaaaagctgatgataagcctg	11	12	13	5	0	1	4	0	3	1	1	1	4	1	4	1	2	2	4	1	2	5	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr8:101051204G>C	ENST00000360863.6	-	14	2315	c.2121C>G	c.(2119-2121)ttC>ttG	p.F707L	RGS22_ENST00000523287.1_Missense_Mutation_p.F526L|RGS22_ENST00000523437.1_Missense_Mutation_p.F695L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	707					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTCTTGGTAGAAAAGCTGAT	0.358													7	22					0	0	0	0	C	101051204	G	C	101051204	3	2	399	1	0	0	0	0	1	0	0	0	13388	933	33	2	1729	2	RGS22	8	101051204	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	35541839	101051204	45312818	55	76669											
TAF1L	138474	broad.mit.edu	37	chr9	32634014	32634014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggttctcatcattgggatCaagtgccaaaacaggaggtt	12	10	12	7	0	3	0	3	0	1	0	4	3	3	2	1	4	2	2	1	4	3	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr9:32634014C>G	ENST00000242310.4	-	1	1653	c.1564G>C	c.(1564-1566)Gat>Cat	p.D522H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	522					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATTGGGATCAAGTGCCAAA	0.488													18	197					0	0	0	0	G	32634014	C	G	32634014	3	3	399	1	0	0	0	0	1	0	0	0	15614	826	29	2	3920	2	TAF1L	9	32634014	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		32634014	108579417	56	76670											
GKAP1	80318	broad.mit.edu	37	chr9	86421373	86421373	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagccactgccactatccacTtgtaacagggcaaaacgaga	14	6	9	12	1	0	1	0	0	0	1	1	3	1	1	3	1	4	2	3	1	4	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr9:86421373T>C	ENST00000376371.2	-	3	460	c.60A>G	c.(58-60)caA>caG	p.Q20Q	GKAP1_ENST00000376365.3_Silent_p.Q20Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	20					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CACTATCCACTTGTAACAGGG	0.403													5	35					0	0	0	0	C	86421373	T	C	86421373	2	2	399	1	0	0	0	0	0	0	0	1	6474	1606	56	5		5	GKAP1	9	86421373	Silent	SNP	T	TCGA-F7-A50G-01A-11D-A25Y-08	53787359	86421373	54792058	57	76671											
SYK	6850	broad.mit.edu	37	chr9	93641064	93641066	+	In_Frame_Del	DEL	CAT	CAT	-																															agacatgtcaaggataagaaCatcatagaactggttcatca																										TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr9:93641064_93641066delCAT	ENST00000375754.4	+	11	1558_1560	c.1410_1412delCAT	c.(1408-1413)aac>aa	p.NI470del	SYK_ENST00000375746.1_In_Frame_Del_p.NI470del|SYK_ENST00000375747.1_In_Frame_Del_p.NI447del|SYK_ENST00000375751.4_In_Frame_Del_p.NI447del	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	470	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGGATAAGAACATCATAGAACTG	0.433			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								14	104	---	---	---	---					-	93641066	CAT	-	93641064	7	5	399	1	0	1	0	1	0	0	0	0	15529	477	17	0	1448	0	SYK	9	93641064	In_Frame_Del	DEL	CAT	TCGA-F7-A50G-01A-11D-A25Y-08	7219691	93641064	47572367	58	76672											
NUP188	23511	broad.mit.edu	37	chr9	131735480	131735480	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtgtctatggactgctCtctttcgttctgacctcgtt	4	18	9	10	2	3	1	0	1	3	0	6	2	3	2	1	1	1	3	1	1	1	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr9:131735480C>G	ENST00000372577.2	+	12	1176	c.1155C>G	c.(1153-1155)ctC>ctG	p.L385L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	385					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGGACTGCTCTCTTTCGTTC	0.502													15	30					0	0	0	0	G	131735480	C	G	131735480	2	3	399	1	0	0	0	0	0	0	0	1	10829	900	32	2		2	NUP188	9	131735480	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	38094416	131735480	9477951	59	76673											
DBH	1621	broad.mit.edu	37	chr9	136501745	136501745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggaggctcaaggctggCgtcctgtttgggatgtccga	5	10	17	9	3	1	0	1	0	0	0	3	3	3	2	2	5	1	3	2	5	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr9:136501745C>T	ENST00000393056.2	+	1	264	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	84	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.G84G(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCAAGGCTGGCGTCCTGTTTG	0.612													17	41					0	0	0	0	T	136501745	C	T	136501745	2	4	399	1	0	0	0	0	0	0	0	1	4283	755	27	1		1	DBH	9	136501745	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	4766265	136501745	4711686	60	76674											
SARDH	1757	broad.mit.edu	37	chr9	136573530	136573530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccagcgggggtggtccGtgagcgagtgatggaagcgc	7	6	20	8	4	0	2	0	2	0	0	2	5	2	4	2	5	3	0	2	5	1	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr9:136573530G>A	ENST00000371872.4	-	11	1606	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	SARDH_ENST00000422262.2_Missense_Mutation_p.T282M|SARDH_ENST00000439388.1_Missense_Mutation_p.T450M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGGTGGTCCGTGAGCGAGTG	0.652													49	107					0	0	0	0	A	136573530	G	A	136573530	3	1	399	1	0	0	0	0	1	0	0	0	13927	1145	40	1	1451	1	SARDH	9	136573530	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	71785	136573530	4639901	61	76675											
CALML3	810	broad.mit.edu	37	chr10	5567421	5567421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgaggaggtggacgagAtgatccgggccgcggacacg	9	4	19	9	6	0	3	0	2	0	1	1	8	1	6	2	5	0	0	2	5	0	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr10:5567421A>G	ENST00000315238.1	+	1	498	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	125	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GGTGGACGAGATGATCCGGGC	0.652													9	50					0	0	0	0	G	5567421	A	G	5567421	3	3	399	1	0	0	0	0	1	0	0	0	2612	333	12	5	375	5	CALML3	10	5567421	Missense_Mutation	SNP	A	TCGA-F7-A50G-01A-11D-A25Y-08		5567421	129967326	62	76676											
PRKG1	5592	broad.mit.edu	37	chr10	52913070	52913070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagaaggagacgtggggtCactggtgtatgtcatggaag	12	8	16	5	1	2	2	2	0	0	2	2	4	2	3	0	5	0	1	0	5	4	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr10:52913070C>T	ENST00000373980.4	+	2	875	c.458C>T	c.(457-459)tCa>tTa	p.S153L	PRKG1_ENST00000373985.1_Missense_Mutation_p.S126L|PRKG1_ENST00000401604.2_Missense_Mutation_p.S138L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	138					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GACGTGGGGTCACTGGTGTAT	0.448													11	51					0	0	0	0	T	52913070	C	T	52913070	3	4	399	1	0	0	0	0	1	0	0	0	12602	838	29	2	734	2	PRKG1	10	52913070	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	47345649	52913070	82621677	63	76677											
C10orf107	219621	broad.mit.edu	37	chr10	63519826	63519826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcccatcagcaagtgataGaggttgtcaagtctgcatgt	10	12	10	9	0	3	2	2	1	1	1	4	2	4	2	1	1	2	3	1	1	3	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr10:63519826G>C	ENST00000330194.2	+	5	603	c.298G>C	c.(298-300)Gag>Cag	p.E100Q		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	100								p.E100Q(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					GCAAGTGATAGAGGTTGTCAA	0.413													10	40					0	0	0	0	C	63519826	G	C	63519826	3	2	399	1	0	0	0	0	1	0	0	0	1591	943	33	2	312	2	C10orf107	10	63519826	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	10606756	63519826	72014921	64	76678											
PSD	5662	broad.mit.edu	37	chr10	104173914	104173914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaggggctcgtcccaggtaGaaagggcacaggtgacttga	10	6	16	9	2	0	3	0	2	0	1	2	4	1	3	1	5	0	3	1	5	2	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr10:104173914G>C	ENST00000020673.5	-	5	1691	c.1165C>G	c.(1165-1167)Cta>Gta	p.L389V	PSD_ENST00000406432.1_Missense_Mutation_p.L389V	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	389					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GTCCCAGGTAGAAAGGGCACA	0.602													23	115					0	0	0	0	C	104173914	G	C	104173914	3	2	399	1	0	0	0	0	1	0	0	0	12725	933	33	2	1961	2	PSD	10	104173914	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	40654088	104173914	31360833	65	76679											
DHX32	55760	broad.mit.edu	37	chr10	127541142	127541142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagccaagaatctgcttgcGtatctctgcctggctctggc	6	12	11	12	1	3	2	0	1	3	1	4	2	3	2	2	2	4	3	2	2	3	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr10:127541142G>A	ENST00000284690.3	-	5	1652	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	DHX32_ENST00000368721.1_Missense_Mutation_p.R12C|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.R307C	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	388						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATCTGCTTGCGTATCTCTGCC	0.453													7	79					0	0	0	0	A	127541142	G	A	127541142	3	1	399	1	0	0	0	0	1	0	0	0	4542	1145	40	1	1097	1	DHX32	10	127541142	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	23367228	127541142	7993605	66	76680											
PRMT3	10196	broad.mit.edu	37	chr11	20486034	20486034	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccatacgacgtctatctCagatttggaattttcatcag	10	15	7	9	2	4	1	3	0	2	1	5	3	4	2	1	1	2	0	1	1	3	6			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:20486034C>G	ENST00000331079.6	+	13	1506	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	PRMT3_ENST00000437750.2_Nonsense_Mutation_p.S368*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	430							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACGTCTATCTCAGATTTGGAA	0.323													7	31					0	0	0	0	G	20486034	C	G	20486034	4	3	399	1	0	0	0	0	0	1	0	0	12618	838	29	2	1339	2	PRMT3	11	20486034	Nonsense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		20486034	114520482	67	76681											
OR9G4	283189	broad.mit.edu	37	chr11	56511269	56511269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgaaagcctgactatCatgagaagggaaaatcatca	16	7	12	6	0	3	3	3	3	0	1	3	6	3	5	1	3	1	0	1	3	5	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:56511269C>A	ENST00000302957.3	-	1	18	c.19G>T	c.(19-21)Gat>Tat	p.D7Y		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCCTGACTATCATGAGAAGGG	0.403													10	98					1.76689e-08	1.87083e-08	1	0	A	56511269	C	A	56511269	3	1	399	1	0	0	0	0	1	0	0	0	11322	826	29	2	967	2	OR9G4	11	56511269	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	36025235	56511269	78495247	68	76682											
BSCL2	26580	broad.mit.edu	37	chr11	62459942	62459942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgctccagtggtcggcaCgtactgtgagggggtggggt	5	9	19	8	3	0	1	0	1	0	0	3	2	1	1	1	6	1	3	1	6	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:62459942C>T	ENST00000433053.1	-	7	1325	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	BSCL2_ENST00000278893.7_Missense_Mutation_p.V193M|BSCL2_ENST00000360796.5_Missense_Mutation_p.V257M|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Missense_Mutation_p.V193M|BSCL2_ENST00000407022.3_Missense_Mutation_p.V193M|BSCL2_ENST00000405837.1_Missense_Mutation_p.V257M|BSCL2_ENST00000403550.1_Missense_Mutation_p.V193M			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	193					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GTGGTCGGCACGTACTGTGAG	0.617													5	48					0	0	0	0	T	62459942	C	T	62459942	3	4	399	1	0	0	0	0	1	0	0	0	1535	536	19	1	643	1	BSCL2	11	62459942	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	5948673	62459942	72546574	69	76683											
PLCB3	5331	broad.mit.edu	37	chr11	64033670	64033670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggctgaaagagatgaacGagaggtgaaagccgaggatt	16	5	16	4	2	0	6	0	3	0	3	0	10	0	7	1	3	2	1	1	3	3	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:64033670G>A	ENST00000540288.1	+	27	3365	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PLCB3_ENST00000325234.5_Missense_Mutation_p.E1021K|PLCB3_ENST00000279230.6_Missense_Mutation_p.E1088K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1088					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGAGATGAACGAGAGGTGAAA	0.562													18	94					0	0	0	0	A	64033670	G	A	64033670	3	1	399	1	0	0	0	0	1	0	0	0	12101	1059	37	1	3368	1	PLCB3	11	64033670	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	1573728	64033670	70972846	70	76684											
PCNXL3	399909	broad.mit.edu	37	chr11	65386040	65386040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacccctgcgaagacactctCcacctggccgtgcccctcga	7	6	8	20	3	1	1	0	0	1	1	3	3	1	1	7	1	2	0	7	1	1	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:65386040C>T	ENST00000355703.3	+	6	1746	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	403						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AAGACACTCTCCACCTGGCCG	0.662													4	42					0	0	0	0	T	65386040	C	T	65386040	3	4	399	1	0	0	0	0	1	0	0	0	11664	855	30	2	1229	2	PCNXL3	11	65386040	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	1352370	65386040	69620476	71	76685											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021441	73021441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatccgctgcccctcatCgtccaggaccaatatgtgca	9	8	10	14	2	1	0	1	0	0	0	4	3	3	2	5	2	2	2	5	2	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:73021441C>T	ENST00000263674.3	+	1	2108	c.1758C>T	c.(1756-1758)atC>atT	p.I586I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	586					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCCCCTCATCGTCCAGGACC	0.647													12	78					0	0	0	0	T	73021441	C	T	73021441	2	4	399	1	0	0	0	0	0	0	0	1	902	874	31	1		1	ARHGEF17	11	73021441	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	7635401	73021441	61985075	72	76686											
FAT3	120114	broad.mit.edu	37	chr11	92531574	92531574	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataacagcccactggtgattCgagccacagatgctgacagc	12	7	10	12	1	0	3	0	2	0	1	1	4	0	3	2	1	5	1	2	1	1	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:92531574C>T	ENST00000298047.6	+	9	5412	c.5395C>T	c.(5395-5397)Cga>Tga	p.R1799*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R1799*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R1649*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1799	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTGGTGATTCGAGCCACAGA	0.483										TCGA Ovarian(4;0.039)			6	23					0	0	0	0	T	92531574	C	T	92531574	4	4	399	1	0	0	0	0	0	1	0	0	5736	876	31	1	5429	1	FAT3	11	92531574	Nonsense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	19510133	92531574	42474942	73	76687											
DSCAML1	57453	broad.mit.edu	37	chr11	117376387	117376387	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgaggacaccacacagggaAtgtagagcagctggccgatg	12	4	14	11	2	0	1	0	0	0	1	0	5	0	3	3	3	2	3	3	3	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:117376387A>T	ENST00000321322.6	-	9	2025	c.2024T>A	c.(2023-2025)aTt>aAt	p.I675N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I405N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	615	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACACAGGGAATGTAGAGCAG	0.627													6	51					0	0	0	0	T	117376387	A	T	117376387	3	4	399	1	0	0	0	0	1	0	0	0	4805	101	4	5	4417	5	DSCAML1	11	117376387	Missense_Mutation	SNP	A	TCGA-F7-A50G-01A-11D-A25Y-08	24844813	117376387	17630129	74	76688											
TMEM25	84866	broad.mit.edu	37	chr11	118403152	118403152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggccgatcagccaacGcctctgtcatccttaatgtg	9	10	10	12	2	3	0	2	0	1	0	4	2	4	0	4	1	2	0	4	1	3	1	rs149608668		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:118403152G>A	ENST00000524725.1	+	2	770	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000442938.2_Missense_Mutation_p.A120T|TMEM25_ENST00000533102.1_Missense_Mutation_p.A120T|TMEM25_ENST00000411589.2_Missense_Mutation_p.A120T|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.A120T|TMEM25_ENST00000359862.4_Missense_Mutation_p.A120T|TMEM25_ENST00000544878.1_Missense_Mutation_p.A120T|TMEM25_ENST00000313236.5_Missense_Mutation_p.A120T			Q86YD3	TMM25_HUMAN	transmembrane protein 25	120	Ig-like.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCAGCCAACGCCTCTGTCAT	0.612													11	62					0	0	0	0	A	118403152	G	A	118403152	3	1	399	1	0	0	0	0	1	0	0	0	16244	1087	38	1	364	1	TMEM25	11	118403152	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	1026765	118403152	16603364	75	76689											
GRIK4	2900	broad.mit.edu	37	chr11	120702618	120702618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatctccaaggacacgctgtCcgtccgcatgctggatgaca	9	9	10	13	3	1	1	0	1	1	0	4	3	3	3	3	2	1	3	3	2	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:120702618C>A	ENST00000527524.2	+	7	856	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	GRIK4_ENST00000438375.2_Missense_Mutation_p.S190Y			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	190					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GACACGCTGTCCGTCCGCATG	0.602													12	76					0.000978159	0.000991936	1	0	A	120702618	C	A	120702618	3	1	399	1	0	0	0	0	1	0	0	0	6826	855	30	2	587	2	GRIK4	11	120702618	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	2299466	120702618	14303898	76	76690											
TMEM225	338661	broad.mit.edu	37	chr11	123753921	123753921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcacggacaatgctaCgaggcattgcagtgcattct	9	11	12	9	2	1	0	0	0	1	0	1	2	1	1	0	2	5	5	0	2	2	3	rs114104204	by1000genomes	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:123753921C>T	ENST00000375026.2	-	4	818	c.602G>A	c.(601-603)cGt>cAt	p.R201H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	201						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GACAATGCTACGAGGCATTGC	0.418													12	70					0	0	0	0	T	123753921	C	T	123753921	3	4	399	1	0	0	0	0	1	0	0	0	16241	536	19	1	79	1	TMEM225	11	123753921	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	3051303	123753921	11252595	77	76691											
TMEM225	338661	broad.mit.edu	37	chr11	123754841	123754841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgatccaggtgatcctaTaattagagaagtgcatggat	14	11	10	6	0	0	3	0	2	0	1	2	5	2	4	2	2	1	1	2	2	4	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr11:123754841T>C	ENST00000375026.2	-	3	620	c.404A>G	c.(403-405)tAt>tGt	p.Y135C		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	135						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTGATCCTATAATTAGAGAA	0.408													4	47					0	0	0	0	C	123754841	T	C	123754841	3	2	399	1	0	0	0	0	1	0	0	0	16241	1406	49	5	281	5	TMEM225	11	123754841	Missense_Mutation	SNP	T	TCGA-F7-A50G-01A-11D-A25Y-08	920	123754841	11251675	78	76692											
PRB3	5544	broad.mit.edu	37	chr12	11420681	11420681	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggactggtttcctccttGtgggggtggtccttctggct	1	16	15	9	0	1	0	0	0	1	0	4	1	4	1	3	6	0	2	3	6	0	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr12:11420681G>C	ENST00000381842.3	-	0	539				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTCCTTGTGGGGGTGGT	0.652													31	133					0	0	0	0	C	11420681	G	C	11420681	1	2	399	0	1	0	0	0	0	0	0	0	12524	1386	48	4		4	PRB3	12	11420681	RNA	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08		11420681	122431214	79	76693											
GRIN2B	2904	broad.mit.edu	37	chr12	13716837	13716837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcaggggagcggggcggtCggcgacggtaggccagctcg	5	4	22	10	6	1	0	1	0	0	0	3	2	1	1	1	9	2	2	1	9	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr12:13716837C>T	ENST00000279593.3	-	13	3544	c.3335G>A	c.(3334-3336)cGa>cAa	p.R1112Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1112					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGGGGCGGTCGGCGACGGTA	0.602													18	47					0	0	0	0	T	13716837	C	T	13716837	3	4	399	1	0	0	0	0	1	0	0	0	6830	884	31	1	1123	1	GRIN2B	12	13716837	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	2296156	13716837	120135058	80	76694											
PDE3A	5139	broad.mit.edu	37	chr12	20833109	20833109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccagacccctcagtcGcactcttcagaacagatcca	11	7	7	16	1	3	3	2	0	1	3	5	4	4	4	4	1	1	1	4	1	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr12:20833109G>A	ENST00000359062.3	+	16	3370	c.3330G>A	c.(3328-3330)tcG>tcA	p.S1110S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1110					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S1110S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCCCTCAGTCGCACTCTTCAG	0.483													45	672					0	0	0	0	A	20833109	G	A	20833109	2	1	399	1	0	0	0	0	0	0	0	1	11708	1074	38	1		1	PDE3A	12	20833109	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	7116272	20833109	113018786	81	76695											
LRIG3	121227	broad.mit.edu	37	chr12	59271288	59271288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaccacggctatgatcacGacacccacagtggcccatcc	12	5	7	17	2	1	1	1	1	0	0	2	2	2	1	4	2	1	1	4	2	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr12:59271288G>A	ENST00000320743.3	-	15	2716	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	LRIG3_ENST00000379141.4_Silent_p.V750V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	810						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTATGATCACGACACCCACAG	0.562			T	ROS1	NSCLC								17	55					0	0	0	0	A	59271288	G	A	59271288	2	1	399	1	0	0	0	0	0	0	0	1	9010	1045	37	1		1	LRIG3	12	59271288	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	38438179	59271288	74580607	82	76696											
SPPL3	121665	broad.mit.edu	37	chr12	121206807	121206807	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagcaggcaggagaccttGaggctcggcaggcggacaaa	13	3	16	9	2	0	3	0	1	0	2	1	5	0	4	1	6	1	4	1	6	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr12:121206807G>C	ENST00000353487.2	-	7	1061	c.558C>G	c.(556-558)ctC>ctG	p.L186L		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	187						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGAGACCTTGAGGCTCGGCA	0.557													4	9					0	0	0	0	C	121206807	G	C	121206807	2	2	399	1	0	0	0	0	0	0	0	1	15180	1277	45	2		2	SPPL3	12	121206807	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	61935519	121206807	12645088	83	76697											
ATP7B	540	broad.mit.edu	37	chr13	52524492	52524492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagggaccaccttgaCgatatcgccccgctgcacca	8	6	8	19	3	0	1	0	1	0	0	2	3	1	2	7	1	1	2	7	1	1	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr13:52524492C>T	ENST00000242839.4	-	10	2647	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I|ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	831					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACCACCTTGACGATATCGCCC	0.557									Wilson disease				8	41					0	0	0	0	T	52524492	C	T	52524492	3	4	399	1	0	0	0	0	1	0	0	0	1195	536	19	1	1954	1	ATP7B	13	52524492	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		52524492	62645386	84	76698											
HAUS4	54930	broad.mit.edu	37	chr14	23417081	23417081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccatgccctgataaacctggGagtaagcagcactcttcttc	10	10	8	13	0	2	1	0	1	2	0	3	2	2	2	3	1	4	3	3	1	3	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr14:23417081G>C	ENST00000206474.7	-	7	956	c.704C>G	c.(703-705)tCc>tGc	p.S235C	HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555986.1_Missense_Mutation_p.S190C|HAUS4_ENST00000555367.1_Missense_Mutation_p.S190C|RP11-298I3.5_ENST00000555074.1_Silent_p.L64L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.S235C|HAUS4_ENST00000490506.1_Missense_Mutation_p.S111C|HAUS4_ENST00000342454.8_Missense_Mutation_p.S190C|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548322.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	235					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						ATAAACCTGGGAGTAAGCAGC	0.542													17	132					0	0	0	0	C	23417081	G	C	23417081	3	2	399	1	0	0	0	0	1	0	0	0	7018	1174	41	2	403	2	HAUS4	14	23417081	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08		23417081	83932459	85	76699											
DYNC1H1	1778	broad.mit.edu	37	chr14	102461416	102461416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaacatgacggaattcCattcccagatctcaaaggtg	14	9	8	10	1	2	2	2	1	1	1	5	4	4	3	2	2	1	0	2	2	3	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr14:102461416C>T	ENST00000360184.4	+	14	3591	c.3427C>T	c.(3427-3429)Cat>Tat	p.H1143Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1143	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACGGAATTCCATTCCCAGAT	0.458													9	100					0	0	0	0	T	102461416	C	T	102461416	3	4	399	1	0	0	0	0	1	0	0	0	4877	594	21	4	3481	4	DYNC1H1	14	102461416	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	79044335	102461416	4888124	86	76700											
CDCA4	55038	broad.mit.edu	37	chr14	105478001	105478001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcggtcgagcggcgccCgctctgcagcctggggtgcc	4	5	16	16	5	1	0	0	0	1	0	2	1	1	0	4	4	5	2	4	4	1	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr14:105478001C>T	ENST00000336219.3	-	2	421	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	CDCA4_ENST00000392590.3_Missense_Mutation_p.R89Q	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	89						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GAGCGGCGCCCGCTCTGCAGC	0.672													15	49					0	0	0	0	T	105478001	C	T	105478001	3	4	399	1	0	0	0	0	1	0	0	0	3117	652	23	1	463	1	CDCA4	14	105478001	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	3016585	105478001	1871539	87	76701											
NEO1	4756	broad.mit.edu	37	chr15	73562474	73562474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgacaccatcaggattaCgtgggcagacaactcgctgc	11	8	10	12	2	2	2	2	1	0	1	3	3	2	3	1	2	3	2	1	2	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr15:73562474C>T	ENST00000339362.5	+	18	3065	c.2618C>T	c.(2617-2619)aCg>aTg	p.T873M	NEO1_ENST00000261908.6_Missense_Mutation_p.T873M|NEO1_ENST00000558964.1_Missense_Mutation_p.T873M|NEO1_ENST00000560262.1_Missense_Mutation_p.T873M			Q92859	NEO1_HUMAN	neogenin 1	873	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.T873M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATCAGGATTACGTGGGCAGAC	0.507													18	152					0	0	0	0	T	73562474	C	T	73562474	3	4	399	1	0	0	0	0	1	0	0	0	10406	536	19	1	2684	1	NEO1	15	73562474	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		73562474	28968918	88	76702											
HCN4	10021	broad.mit.edu	37	chr15	73635971	73635971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggatgatctctgtgttgtCctccaccacgatccctgtgc	6	12	9	14	1	1	1	0	1	1	0	5	3	4	2	4	1	1	1	4	1	0	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr15:73635971C>A	ENST00000261917.3	-	2	1957	c.964G>T	c.(964-966)Gac>Tac	p.D322Y		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	322					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCTGTGTTGTCCTCCACCACG	0.493													23	25					7.41877e-09	7.91336e-09	1	0	A	73635971	C	A	73635971	3	1	399	1	0	0	0	0	1	0	0	0	7049	855	30	2	2675	2	HCN4	15	73635971	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	73497	73635971	28895421	89	76703											
MMP25	64386	broad.mit.edu	37	chr16	3100516	3100516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggacactcactttgaCgatgaggagacctggacttt	9	10	12	10	2	1	3	1	2	0	1	2	7	2	5	2	4	0	0	2	4	0	2	rs146506930		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr16:3100516C>T	ENST00000336577.4	+	4	867	c.630C>T	c.(628-630)gaC>gaT	p.D210D	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	210					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CTCACTTTGACGATGAGGAGA	0.532													17	83					0	0	0	0	T	3100516	C	T	3100516	2	4	399	1	0	0	0	0	0	0	0	1	9732	535	19	1		1	MMP25	16	3100516	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		3100516	87254237	90	76704											
ZNF646	9726	broad.mit.edu	37	chr16	31091514	31091514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtgggggtgggggcacccGaaaggcgactcgggaagatc	8	4	20	9	4	0	1	0	0	0	1	2	4	0	2	1	6	0	1	1	6	2	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr16:31091514G>A	ENST00000394979.2	+	1	4292	c.3869G>A	c.(3868-3870)cGa>cAa	p.R1290Q	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1290Q			O15015	ZN646_HUMAN	zinc finger protein 646	1290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R1290Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGGGGCACCCGAAAGGCGACT	0.701													12	74					0	0	0	0	A	31091514	G	A	31091514	3	1	399	1	0	0	0	0	1	0	0	0	18157	1058	37	1	3871	1	ZNF646	16	31091514	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	27990998	31091514	59263239	91	76705											
TP53	7157	broad.mit.edu	37	chr17	7576853	7576853	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcccaagacttagtacCtgaagggtgaaatattctcc	12	10	10	9	0	1	3	0	2	1	1	3	4	2	3	3	2	1	1	3	2	6	4	rs11575996		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr17:7576853C>A	ENST00000420246.2	-	9	1125	c.993_splice	c.e9+1	p.Q331_splice	TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(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)		GACTTAGTACCTGAAGGGTGA	0.453		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	49					1.50039e-11	1.63679e-11	1	0	A	7576853	C	A	7576853	5	1	399	1	0	0	0	0	0	0	1	0	16476	695	24	4	289	4	TP53	17	7576853	Splice_Site	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		7576853	73618357	92	76706											
KDM6B	23135	broad.mit.edu	37	chr17	7752972	7752972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacctttatcgcctctgaGgtggaagagcggcggctgcg	7	8	16	10	4	1	3	0	1	1	2	2	5	1	4	2	4	2	1	2	4	2	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr17:7752972G>T	ENST00000254846.5	+	11	3755	c.3366G>T	c.(3364-3366)gaG>gaT	p.E1122D	KDM6B_ENST00000448097.2_Missense_Mutation_p.E1122D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1122					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCGCCTCTGAGGTGGAAGAGC	0.612													8	44					2.17888e-05	2.25725e-05	1	0	T	7752972	G	T	7752972	3	4	399	1	0	0	0	0	1	0	0	0	8190	991	35	4	3396	4	KDM6B	17	7752972	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	176119	7752972	73442238	93	76707											
KIAA0100	9703	broad.mit.edu	37	chr17	26960084	26960084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactctggggcccgcagagtGacactatggtgatcatgggg	9	8	15	9	1	2	3	1	2	1	1	2	3	2	3	1	5	1	1	1	5	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr17:26960084G>A	ENST00000528896.2	-	20	3755	c.3681C>T	c.(3679-3681)gtC>gtT	p.V1227V	KIAA0100_ENST00000389003.3_Silent_p.V1084V|KIAA0100_ENST00000544884.1_Silent_p.V1084V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1227						extracellular region				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)					CCCGCAGAGTGACACTATGGT	0.587													16	58					0	0	0	0	A	26960084	G	A	26960084	2	1	399	1	0	0	0	0	0	0	0	1	8205	1277	45	2		2	KIAA0100	17	26960084	Silent	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	19207112	26960084	54235126	94	76708											
CCT6B	10693	broad.mit.edu	37	chr17	33281470	33281470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaagacatcagccagttcaGcatgaactttagtttgtaat	13	14	7	7	0	2	2	2	1	0	1	2	2	2	2	1	0	3	4	1	0	4	6			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr17:33281470G>T	ENST00000314144.5	-	4	600	c.485C>A	c.(484-486)gCt>gAt	p.A162D	CCT6B_ENST00000421975.3_Missense_Mutation_p.A162D|CCT6B_ENST00000436961.3_Missense_Mutation_p.A117D	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	162					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AGCCAGTTCAGCATGAACTTT	0.323													5	27					3.59834e-05	3.6749e-05	1	0	T	33281470	G	T	33281470	3	4	399	1	0	0	0	0	1	0	0	0	2987	971	34	4	1151	4	CCT6B	17	33281470	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	6321386	33281470	47913740	95	76709											
GRN	2896	broad.mit.edu	37	chr17	42427098	42427098	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgcagtgcagacgggCgatcctgcttccaaagatca	10	8	10	13	2	1	2	1	0	0	2	4	3	4	2	3	1	3	3	3	1	1	1	rs63750411		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr17:42427098C>T	ENST00000053867.3	+	4	390	c.328C>T	c.(328-330)Cga>Tga	p.R110*	GRN_ENST00000589265.1_Nonsense_Mutation_p.R110*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	110					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCAGACGGGCGATCCTGCTT	0.657													6	31					0	0	0	0	T	42427098	C	T	42427098	4	4	399	1	0	0	0	0	0	1	0	0	6854	760	27	1	338	1	GRN	17	42427098	Nonsense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	9145628	42427098	38768112	96	76710											
TRIM37	4591	broad.mit.edu	37	chr17	57093003	57093003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcctccttttctcaacCgcaggcaagccactgaaaac	11	11	5	14	1	1	1	1	1	1	0	4	1	3	1	4	1	3	2	4	1	4	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr17:57093003C>T	ENST00000376149.3	-	21	2987	c.2178G>A	c.(2176-2178)gcG>gcA	p.A726A	TRIM37_ENST00000262294.7_Silent_p.A848A|TRIM37_ENST00000393066.3_Silent_p.A848A|TRIM37_ENST00000393065.2_Silent_p.A814A			O94972	TRI37_HUMAN	tripartite motif containing 37	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTTCTCAACCGCAGGCAAGC	0.398									Mulibrey Nanism				25	138					0	0	0	0	T	57093003	C	T	57093003	2	4	399	1	0	0	0	0	0	0	0	1	16606	639	23	1		1	TRIM37	17	57093003	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	14665905	57093003	24102207	97	76711											
TAF4B	6875	broad.mit.edu	37	chr18	23969873	23969873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccaaacagttgcatcGtccaagaatcacgagaatct	15	7	7	12	2	2	2	1	0	1	2	4	3	3	2	3	0	3	2	3	0	4	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr18:23969873G>A	ENST00000269142.5	+	15	3484	c.2486G>A	c.(2485-2487)cGt>cAt	p.R829H	TAF4B_ENST00000578121.1_Missense_Mutation_p.R834H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	829					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CAGTTGCATCGTCCAAGAATC	0.423													24	90					0	0	0	0	A	23969873	G	A	23969873	3	1	399	1	0	0	0	0	1	0	0	0	15618	1145	40	1	2544	1	TAF4B	18	23969873	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08		23969873	54107375	98	76712											
SMAD2	4087	broad.mit.edu	37	chr18	45422948	45422948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgatggctttctcaagCtcatctaatcgtcctgtttt	6	17	9	9	1	3	1	2	1	2	0	6	1	4	1	1	2	1	3	1	2	2	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr18:45422948C>T	ENST00000402690.2	-	2	574	c.180G>A	c.(178-180)gaG>gaA	p.E60E	SMAD2_ENST00000356825.4_Silent_p.E60E|SMAD2_ENST00000586040.1_Silent_p.E60E|SMAD2_ENST00000262160.6_Silent_p.E60E|SMAD2_ENST00000591214.1_Silent_p.E60E	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	60	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTTTCTCAAGCTCATCTAATC	0.418													14	57					0	0	0	0	T	45422948	C	T	45422948	2	4	399	1	0	0	0	0	0	0	0	1	14846	796	28	4		4	SMAD2	18	45422948	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	21453075	45422948	32654300	99	76713											
ZNF516	9658	broad.mit.edu	37	chr18	74091257	74091257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggctgcgcgccagccCgggcgatgacggtgggcgta	5	4	19	13	7	0	1	0	1	0	0	0	3	0	1	3	4	2	2	3	4	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr18:74091257C>T	ENST00000443185.2	-	4	3130	c.2813G>A	c.(2812-2814)cGg>cAg	p.R938Q	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGCGCCAGCCCGGGCGATGAC	0.701													10	45					0	0	0	0	T	74091257	C	T	74091257	3	4	399	1	0	0	0	0	1	0	0	0	18055	652	23	1	695	1	ZNF516	18	74091257	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	28668309	74091257	3985991	100	76714											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509297	7509297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggagggcagtgaccGgaattatgtcatccagaaaa	13	7	13	8	1	1	2	1	1	0	1	2	5	2	5	3	4	0	1	3	4	4	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr19:7509297G>A	ENST00000359920.6	+	4	1257	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G293R|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R177Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	335	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GGCAGTGACCGGAATTATGTC	0.597													13	53					0	0	0	0	A	7509297	G	A	7509297	3	1	399	1	0	0	0	0	1	0	0	0	903	1116	39	1	1018	1	ARHGEF18	19	7509297	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08		7509297	51619686	101	76715											
DNM2	1785	broad.mit.edu	37	chr19	10883259	10883259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacggggaccaacaaaGgcatctccccagtgcccatc	10	5	11	15	1	2	0	1	0	1	0	4	1	2	1	4	4	2	1	4	4	2	0			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr19:10883259G>A	ENST00000314646.5	+	3	504	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000585892.1_Missense_Mutation_p.G114S|DNM2_ENST00000389253.4_Missense_Mutation_p.G114S|DNM2_ENST00000408974.4_Missense_Mutation_p.G114S|DNM2_ENST00000359692.6_Missense_Mutation_p.G114S|DNM2_ENST00000355667.6_Missense_Mutation_p.G114S			P50570	DYN2_HUMAN	dynamin 2	114					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACCAACAAAGGCATCTCCCC	0.547			"F, N, Splice, Mis, O"		ETP ALL								14	61					0	0	0	0	A	10883259	G	A	10883259	3	1	399	1	0	0	0	0	1	0	0	0	4708	1000	35	4	350	4	DNM2	19	10883259	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	3373962	10883259	48245724	102	76716											
NOTCH3	4854	broad.mit.edu	37	chr19	15281581	15281581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatcggggaagcagtgatCattctcaggcgactgcaggc	9	7	15	10	2	2	1	2	1	1	0	4	3	2	2	0	5	2	3	0	5	1	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr19:15281581C>G	ENST00000263388.2	-	26	4867	c.4792G>C	c.(4792-4794)Gat>Cat	p.D1598H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1598					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGCAGTGATCATTCTCAGGC	0.632													6	26					0	0	0	0	G	15281581	C	G	15281581	3	3	399	1	0	0	0	0	1	0	0	0	10620	826	29	2	2205	2	NOTCH3	19	15281581	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	4398322	15281581	43847402	103	76717											
MEF2B	100271849	broad.mit.edu	37	chr19	19258545	19258545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggccggatcacccccttCgcctgccagcctccgaaact	8	6	8	19	3	1	0	1	0	0	0	3	2	2	1	7	2	3	0	7	2	2	1			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr19:19258545C>T	ENST00000602424.2	-	6	1081	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.E136K|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.E119K|MEF2B_ENST00000424583.2_Missense_Mutation_p.E119K|MEF2B_ENST00000409447.2_Missense_Mutation_p.E119K|MEF2B_ENST00000162023.5_Missense_Mutation_p.E119K|MEF2B_ENST00000410050.1_Missense_Mutation_p.E119K|MEF2B_ENST00000409224.1_Missense_Mutation_p.E122K	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TCACCCCCTTCGCCTGCCAGC	0.622													26	94					0	0	0	0	T	19258545	C	T	19258545	3	4	399	1	0	0	0	0	1	0	0	0	9525	893	31	1	775	1	MEF2B	19	19258545	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	3976964	19258545	39870438	104	76718											
TBCB	1155	broad.mit.edu	37	chr19	36616423	36616423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggggaaaaatgatggCaggtaacaagaattcccact	15	7	10	9	0	0	2	0	1	0	1	1	3	1	3	2	4	1	2	2	4	5	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr19:36616423C>G	ENST00000589996.1	+	5	611	c.569C>G	c.(568-570)gCa>gGa	p.A190G	TBCB_ENST00000585746.1_Silent_p.G155G|TBCB_ENST00000221855.3_Silent_p.G206G|TBCB_ENST00000586868.1_Missense_Mutation_p.A59G			Q99426	TBCB_HUMAN	tubulin folding cofactor B	0	CAP-Gly.				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAAATGATGGCAGGTAACAAG	0.512													16	132					0	0	0	0	G	36616423	C	G	36616423	3	3	399	1	0	0	0	0	1	0	0	0	15724	697	25	4	636	4	TBCB	19	36616423	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	17357878	36616423	22512560	105	76719											
ZNF345	25850	broad.mit.edu	37	chr19	37369178	37369178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataatggtaagaaactctgCgaattggaaactataaattg	17	11	8	5	1	1	1	0	0	1	1	1	3	1	2	0	2	3	1	0	2	8	6			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr19:37369178C>T	ENST00000529555.1	+	2	2234	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	ZNF345_ENST00000589046.1_Silent_p.C482C|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.C482C|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	482					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAACTCTGCGAATTGGAAA	0.343													36	76					0	0	0	0	T	37369178	C	T	37369178	2	4	399	1	0	0	0	0	0	0	0	1	17954	776	27	1		1	ZNF345	19	37369178	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	752755	37369178	21759805	106	76720											
LIM2	3982	broad.mit.edu	37	chr19	51885814	51885814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgaaggcccgggtggcattCcagtatgctgtgggagcacc	8	8	15	10	1	0	1	0	1	0	0	1	2	1	2	3	4	2	4	3	4	2	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr19:51885814C>G	ENST00000221973.3	-	3	351	c.309G>C	c.(307-309)tgG>tgC	p.W103C	LIM2_ENST00000596399.1_Missense_Mutation_p.W61C	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	61					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GGGTGGCATTCCAGTATGCTG	0.567													10	88					0	0	0	0	G	51885814	C	G	51885814	3	3	399	1	0	0	0	0	1	0	0	0	8849	856	30	2	350	2	LIM2	19	51885814	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	14516636	51885814	7243169	107	76721											
DOPEY2	9980	broad.mit.edu	37	chr21	37650303	37650303	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcctggacatggtttatCgaagtgatgagaaggagaaa	13	9	12	7	1	0	3	0	2	0	2	2	7	1	4	2	3	0	1	2	3	4	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr21:37650303C>T	ENST00000399151.3	+	29	5828	c.5743C>T	c.(5743-5745)Cga>Tga	p.R1915*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1915					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				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						CATGGTTTATCGAAGTGATGA	0.478													14	57					0	0	0	0	T	37650303	C	T	37650303	4	4	399	1	0	0	0	0	0	1	0	0	4744	876	31	1	5853	1	DOPEY2	21	37650303	Nonsense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		37650303	10479592	108	76722											
CACNA1I	8911	broad.mit.edu	37	chr22	40074056	40074056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttcgagaacttcggcatGgccttcctcacactcttcca	8	11	6	16	2	2	1	1	0	1	1	6	2	4	1	4	2	1	1	4	2	1	4			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr22:40074056G>A	ENST00000336649.4	+	34	5016	c.5016G>A	c.(5014-5016)atG>atA	p.M1672I	CACNA1I_ENST00000401624.1_Missense_Mutation_p.M1666I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.M1631I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.M1631I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.M1666I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.M1631I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1666					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACTTCGGCATGGCCTTCCTCA	0.627													3	10					0	0	0	0	A	40074056	G	A	40074056	3	1	399	1	0	0	0	0	1	0	0	0	2571	1348	47	4	5120	4	CACNA1I	22	40074056	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08		40074056	11230510	109	76723											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chr22:50659212A>C	ENST00000439308.2	-	16	4068	c.3576T>G	c.(3574-3576)tcT>tcG	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													11	65					0	0	0	0	C	50659212	A	C	50659212	2	2	399	1	0	0	0	0	0	0	0	1	16866	175	7	5		5	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-F7-A50G-01A-11D-A25Y-08	10585156	50659212	645354	110	76724											
PRKX	5613	broad.mit.edu	37	chrX	3573222	3573222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggcgaacccaaagtcCgtgagcttaatgtggccatc	9	11	10	11	2	1	1	0	1	1	0	3	2	2	1	3	2	2	1	3	2	3	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chrX:3573222C>T	ENST00000262848.5	-	3	921	c.567G>A	c.(565-567)acG>acA	p.T189T	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	189	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ACCCAAAGTCCGTGAGCTTAA	0.507													21	38					0	0	0	0	T	3573222	C	T	3573222	2	4	399	1	0	0	0	0	0	0	0	1	12607	639	23	1		1	PRKX	23	3573222	Silent	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08		3573222	151697338	111	76725											
GPR174	84636	broad.mit.edu	37	chrX	78427418	78427418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccgaagacggctttcaaGacaagatttgcatgacagca	13	9	10	9	2	1	4	1	1	0	3	2	5	2	4	1	1	2	4	1	1	3	3			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chrX:78427418G>A	ENST00000276077.1	+	1	950	c.914G>A	c.(913-915)aGa>aAa	p.R305K		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	305						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						CGGCTTTCAAGACAAGATTTG	0.393										HNSCC(63;0.18)			17	26					0	0	0	0	A	78427418	G	A	78427418	3	1	399	1	0	0	0	0	1	0	0	0	6721	942	33	2	916	2	GPR174	23	78427418	Missense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	74854196	78427418	76843142	112	76726											
TEX13A	56157	broad.mit.edu	37	chrX	104463774	104463774	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatactggaggtctttgctGatgaggttcggagtatctcc	8	14	12	7	1	2	2	0	2	2	0	4	4	2	4	1	4	2	3	1	4	3	5			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chrX:104463774G>A	ENST00000413579.1	-	5	1213	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	368						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGTCTTTGCTGATGAGGTTCG	0.547													34	53					0	0	0	0	A	104463774	G	A	104463774	4	1	399	1	0	0	0	0	0	1	0	0	15870	1280	45	2	131	2	TEX13A	23	104463774	Nonsense_Mutation	SNP	G	TCGA-F7-A50G-01A-11D-A25Y-08	26036356	104463774	50806786	113	76727											
GPR112	139378	broad.mit.edu	37	chrX	135429650	135429650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccgacaaagaccagatgaCcatatccctgggaaaaaccc	15	6	7	13	1	0	3	0	1	0	2	2	5	2	4	5	1	1	0	5	1	4	2			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709CE0C-4A09-4691-B2C8-5D5F826126BD	334FF050-399F-4B9D-888A-90DC0F77A958	g.chrX:135429650C>T	ENST00000394143.1	+	6	4076	c.3785C>T	c.(3784-3786)aCc>aTc	p.T1262I	GPR112_ENST00000412101.1_Missense_Mutation_p.T1057I|GPR112_ENST00000394141.1_Missense_Mutation_p.T1057I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1262I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1199I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1262					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACCAGATGACCATATCCCTG	0.448													20	44					0	0	0	0	T	135429650	C	T	135429650	3	4	399	1	0	0	0	0	1	0	0	0	6678	507	18	4	3795	4	GPR112	23	135429650	Missense_Mutation	SNP	C	TCGA-F7-A50G-01A-11D-A25Y-08	30965876	135429650	19840910	114	76728											
PTCHD2	57540	broad.mit.edu	37	chr1	11584076	11584076	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagaggcgaggctcagggGtcccctgggctagccggcct	7	5	17	12	2	1	2	1	0	0	2	2	3	2	2	4	6	1	2	4	6	2	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:11584076G>C	ENST00000294484.6	+	11	2578	c.2440G>C	c.(2440-2442)Gtc>Ctc	p.V814L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V814L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	814					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCTCAGGGGTCCCCTGGGC	0.652													9	57					0	0	0	0	C	11584076	G	C	11584076	3	2	400	1	0	0	0	0	1	0	0	0	12812	1261	44	4	2478	4	PTCHD2	1	11584076	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		11584076	237666545	1	76729											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884893	12884893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaagatcctcttggggtgCcttaagtgcctcactttctt	8	14	8	11	0	3	1	1	0	2	1	4	1	4	1	3	2	3	0	3	2	3	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:12884893C>T	ENST00000535591.1	-	4	1413	c.1218G>A	c.(1216-1218)agG>agA	p.R406R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	406										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTTGGGGTGCCTTAAGTGCC	0.498													29	238					0	0	0	0	T	12884893	C	T	12884893	2	4	400	1	0	0	0	0	0	0	0	1	12503	738	26	4		4	PRAMEF11	1	12884893	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	1300817	12884893	236365728	2	76730											
NBPF1	55672	broad.mit.edu	37	chr1	16907242	16907242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaaatagaggctacctGggagaatgtttacagcatcc	15	8	11	7	0	0	2	0	0	0	2	1	4	1	3	2	3	3	3	2	3	7	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:16907242G>T	ENST00000430580.2	-	16	2476	c.1589C>A	c.(1588-1590)cCa>cAa	p.P530Q		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	530	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTT	0.418													12	826					6.49762e-13	7.70904e-13	1	0	T	16907242	G	T	16907242	3	4	400	1	0	0	0	0	1	0	0	0	10262	1348	47	4	1891	4	NBPF1	1	16907242	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	4022349	16907242	232343379	3	76731											
CSMD2	114784	broad.mit.edu	37	chr1	34190302	34190302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggtctgactgcagtgttAtagctgaaagagagaggcca	12	9	14	6	0	1	4	0	2	1	2	1	5	1	4	1	2	2	3	1	2	3	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:34190302A>G	ENST00000373381.4	-	18	2875	c.2699T>C	c.(2698-2700)aTa>aCa	p.I900T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	860	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCAGTGTTATAGCTGAAAG	0.517													7	41					0	0	0	0	G	34190302	A	G	34190302	3	3	400	1	0	0	0	0	1	0	0	0	3977	449	16	5	8092	5	CSMD2	1	34190302	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	17283060	34190302	215060319	4	76732											
DNALI1	7802	broad.mit.edu	37	chr1	38023218	38023218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcaggctcggctactgaaAgtcagcccccagcagcctgg	8	7	11	15	1	2	1	2	1	1	0	4	1	2	1	3	3	4	3	3	3	2	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:38023218A>G	ENST00000296218.7	+	2	172	c.162A>G	c.(160-162)aaA>aaG	p.K54K	DNALI1_ENST00000541606.1_5'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	32				S -> P (in Ref. 3; CAI46082).	cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTACTGAAAGTCAGCCCCC	0.572													22	215					0	0	0	0	G	38023218	A	G	38023218	2	3	400	1	0	0	0	0	0	0	0	1	4695	69	3	5		5	DNALI1	1	38023218	Silent	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	3832916	38023218	211227403	5	76733											
HIVEP3	59269	broad.mit.edu	37	chr1	42046795	42046795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaggtcgggtatggcatgGggaggaaggaagggggctgc	9	5	23	4	1	0	0	0	0	0	0	1	4	0	4	0	10	1	3	0	10	3	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:42046795G>A	ENST00000372584.1	-	3	4688	c.3674C>T	c.(3673-3675)cCc>cTc	p.P1225L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1225L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1225L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1225L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1225					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTATGGCATGGGGAGGAAGGA	0.587													13	105					0	0	0	0	A	42046795	G	A	42046795	3	1	400	1	0	0	0	0	1	0	0	0	7238	1232	43	4	3570	4	HIVEP3	1	42046795	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	4023577	42046795	207203826	6	76734											
ELTD1	64123	broad.mit.edu	37	chr1	79383705	79383705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagctaaaaagaagtagtGtagcagtccggcaatgattg	15	8	12	6	1	0	2	0	1	0	1	1	2	1	2	1	1	3	6	1	1	7	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:79383705G>A	ENST00000370742.3	-	11	1555	c.1492C>T	c.(1492-1494)Cac>Tac	p.H498Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	498					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		AAGAAGTAGTGTAGCAGTCCG	0.343													5	86					0	0	0	0	A	79383705	G	A	79383705	3	1	400	1	0	0	0	0	1	0	0	0	5122	1377	48	4	600	4	ELTD1	1	79383705	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	37336910	79383705	169866916	7	76735											
CTBS	1486	broad.mit.edu	37	chr1	85029038	85029038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttttgtagggcacctgacGtcctgcagcgtcactacaag	8	10	11	12	3	1	1	1	1	0	0	2	1	2	1	2	1	3	4	2	1	3	4	rs77922958	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:85029038G>A	ENST00000370630.4	-	6	907	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	287						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GGCACCTGACGTCCTGCAGCG	0.403													4	51					0	0	0	0	A	85029038	G	A	85029038	3	1	400	1	0	0	0	0	1	0	0	0	4031	1145	40	1	306	1	CTBS	1	85029038	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	5645333	85029038	164221583	8	76736											
CAPZA1	829	broad.mit.edu	37	chr1	113197106	113197106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcttaattacagagcacgGtgacctgggtaatagcagat	12	10	12	7	1	1	3	0	1	1	2	1	3	1	3	1	3	3	3	1	3	4	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:113197106G>A	ENST00000263168.3	+	5	911	c.239G>A	c.(238-240)gGt>gAt	p.G80D	CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	80					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGAGCACGGTGACCTGGGT	0.348													7	34					0	0	0	0	A	113197106	G	A	113197106	3	1	400	1	0	0	0	0	1	0	0	0	2665	1261	44	4	257	4	CAPZA1	1	113197106	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	28168068	113197106	136053515	9	76737											
OLFML2B	25903	broad.mit.edu	37	chr1	161954032	161954032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtggcctgtgccgatccaGctgtacgggagcttgtagga	7	9	15	10	3	0	0	0	0	0	0	1	3	1	2	3	3	4	4	3	3	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:161954032G>A	ENST00000294794.3	-	8	2109	c.1686C>T	c.(1684-1686)agC>agT	p.S562S	OLFML2B_ENST00000367938.1_Silent_p.S45S|OLFML2B_ENST00000367940.2_Silent_p.S563S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	562	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCCGATCCAGCTGTACGGGA	0.577													11	111					0	0	0	0	A	161954032	G	A	161954032	2	1	400	1	0	0	0	0	0	0	0	1	10929	962	34	4		4	OLFML2B	1	161954032	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	48756926	161954032	87296589	10	76738											
PAPPA2	60676	broad.mit.edu	37	chr1	176525684	176525684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtctaccccagcagggctGggaactacctaaggccctac	10	6	11	14	0	1	0	0	0	1	0	1	2	1	1	4	3	5	2	4	3	5	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:176525684G>T	ENST00000367662.3	+	2	1390	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G76W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	76					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCAGGGCTGGGAACTACCT	0.567													30	251					5.45727e-16	6.70191e-16	1	0	T	176525684	G	T	176525684	3	4	400	1	0	0	0	0	1	0	0	0	11504	1348	47	4	228	4	PAPPA2	1	176525684	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	14571652	176525684	72724937	11	76739											
PAPPA2	60676	broad.mit.edu	37	chr1	176525975	176525975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccatggctgccactactAccaccgccattttcacaacc	10	8	5	18	1	1	0	1	0	0	0	1	0	1	0	6	1	5	1	6	1	3	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:176525975A>G	ENST00000367662.3	+	2	1681	c.517A>G	c.(517-519)Acc>Gcc	p.T173A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T173A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	173	Poly-Thr.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCACTACTACCACCGCCAT	0.577													46	72					0	0	0	0	G	176525975	A	G	176525975	3	3	400	1	0	0	0	0	1	0	0	0	11504	391	14	5	519	5	PAPPA2	1	176525975	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	291	176525975	72724646	12	76740											
CFH	3075	broad.mit.edu	37	chr1	196712698	196712698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaggagcccttatgaaatgTttggggatgaagaagtgatg	12	11	15	3	0	0	4	0	3	0	1	0	6	0	6	1	3	1	2	1	3	5	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:196712698T>C	ENST00000367429.4	+	20	3490	c.3250T>C	c.(3250-3252)Ttt>Ctt	p.F1084L		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1084	Sushi 18.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTATGAAATGTTTGGGGATGA	0.388													29	137					0	0	0	0	C	196712698	T	C	196712698	3	2	400	1	0	0	0	0	1	0	0	0	3312	1725	60	5	3346	5	CFH	1	196712698	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	20186723	196712698	52537923	13	76741											
HEATR1	55127	broad.mit.edu	37	chr1	236746421	236746421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagtgctgttgagctcttCtacataatgtgcccacagct	8	13	9	11	0	2	2	0	2	2	0	2	2	2	2	1	0	5	4	1	0	2	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:236746421C>G	ENST00000366582.3	-	18	2431	c.2317G>C	c.(2317-2319)Gaa>Caa	p.E773Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E773Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	773					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGAGCTCTTCTACATAATGT	0.418													16	170					0	0	0	0	G	236746421	C	G	236746421	3	3	400	1	0	0	0	0	1	0	0	0	7077	922	32	2	4229	2	HEATR1	1	236746421	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	40033723	236746421	12504200	14	76742											
FMN2	56776	broad.mit.edu	37	chr1	240341300	240341300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggcagtttcctaggcGagttccatccatggggccac	9	8	13	11	1	0	1	0	0	0	1	3	2	3	1	4	4	0	3	4	4	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:240341300G>T	ENST00000319653.9	+	3	2092	c.1862G>T	c.(1861-1863)cGa>cTa	p.R621L	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	621					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R764L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTCCTAGGCGAGTTCCATCC	0.448													20	39					6.33239e-15	7.68671e-15	1	0	T	240341300	G	T	240341300	3	4	400	1	0	0	0	0	1	0	0	0	5995	1058	37	3	1872	3	FMN2	1	240341300	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	3594879	240341300	8909321	15	76743											
TAF1B	9014	broad.mit.edu	37	chr2	9991714	9991714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaggtttccagtatattCtttatcaacaagcagaagcc	13	12	8	8	0	2	2	1	1	1	1	3	2	3	2	2	1	3	3	2	1	7	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:9991714C>T	ENST00000263663.5	+	4	438	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	84					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCAGTATATTCTTTATCAACA	0.328													11	70					0	0	0	0	T	9991714	C	T	9991714	3	4	400	1	0	0	0	0	1	0	0	0	15611	913	32	2	264	2	TAF1B	2	9991714	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		9991714	233207659	16	76744											
APOB	338	broad.mit.edu	37	chr2	21231727	21231727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaatggttctgatgatCtttactttcatttctacaaa	10	18	6	7	0	5	2	2	2	3	0	5	2	5	2	0	2	2	1	0	2	4	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:21231727C>A	ENST00000233242.1	-	26	8140	c.8013G>T	c.(8011-8013)aaG>aaT	p.K2671N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2671					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTGATGATCTTTACTTTCA	0.418													18	137					2.35188e-11	2.77469e-11	1	0	A	21231727	C	A	21231727	3	1	400	1	0	0	0	0	1	0	0	0	787	912	32	2	5694	2	APOB	2	21231727	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	11240013	21231727	221967646	17	76745											
FOSL2	2355	broad.mit.edu	37	chr2	28631664	28631664	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaagcgtcgcatccggcgGgagaggaacaagctggctgc	10	4	17	10	4	0	2	0	0	0	2	2	5	1	3	1	4	4	3	1	4	3	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:28631664G>C	ENST00000264716.4	+	3	1256	c.393G>C	c.(391-393)cgG>cgC	p.R131R	FOSL2_ENST00000545753.1_Silent_p.R92R|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Silent_p.R106R	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	131					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCATCCGGCGGGAGAGGAACA	0.562													3	32					0	0	0	0	C	28631664	G	C	28631664	2	2	400	1	0	0	0	0	0	0	0	1	6033	1219	43	4		4	FOSL2	2	28631664	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	7399937	28631664	214567709	18	76746											
GALNT14	79623	broad.mit.edu	37	chr2	31360929	31360929	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgaagactggcagaacCagccgacgagtcaggcgccg	11	2	13	15	5	1	2	1	0	0	2	1	5	1	2	5	2	2	1	5	2	2	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:31360929C>A	ENST00000349752.5	-	1	663	c.24G>T	c.(22-24)ctG>ctT	p.L8L	GALNT14_ENST00000356174.3_Silent_p.L8L|GALNT14_ENST00000324589.5_Silent_p.L8L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	8						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGCAGAACCAGCCGACGAG	0.672													7	63					0.0381472	0.038888	1	0	A	31360929	C	A	31360929	2	1	400	1	0	0	0	0	0	0	0	1	6261	581	21	4		4	GALNT14	2	31360929	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	2729265	31360929	211838444	19	76747											
GPAT2	150763	broad.mit.edu	37	chr2	96690048	96690048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccagggcccctggggCggcactctgcctgccagcag	5	5	14	17	1	1	0	0	0	1	0	2	0	2	0	5	4	4	3	5	4	0	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:96690048C>T	ENST00000434632.1	-	17	2166	c.1707G>A	c.(1705-1707)ccG>ccA	p.P569P	GPAT2_ENST00000453542.1_Silent_p.P498P|GPAT2_ENST00000359548.4_Silent_p.P569P|GPAT2_ENST00000377137.3_Silent_p.P569P			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	569					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCCCCTGGGGCGGCACTCTGC	0.642													5	24					0	0	0	0	T	96690048	C	T	96690048	2	4	400	1	0	0	0	0	0	0	0	1	6638	755	27	1		1	GPAT2	2	96690048	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	65329119	96690048	146509325	20	76748											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96992391	96992391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccagatgcagaggccTccatggctgtgataagcctg	8	10	11	12	0	1	3	0	1	1	2	3	3	2	3	4	2	2	2	4	2	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:96992391T>C	ENST00000361124.4	+	1	457	c.46T>C	c.(46-48)Tcc>Ccc	p.S16P	ITPRIPL1_ENST00000542887.1_5'UTR|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.S8P|ITPRIPL1_ENST00000536814.1_5'UTR	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	8						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAGAGGCCTCCATGGCTGT	0.522													25	73					0	0	0	0	C	96992391	T	C	96992391	3	2	400	1	0	0	0	0	1	0	0	0	7977	1551	54	5	62	5	ITPRIPL1	2	96992391	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	302343	96992391	146206982	21	76749											
CCDC138	165055	broad.mit.edu	37	chr2	109463294	109463294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccacagcattctgtggAgaataaaccaaagacagctg	14	9	8	10	0	2	2	0	0	2	2	3	3	2	2	2	1	3	2	2	1	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:109463294A>G	ENST00000295124.4	+	12	1484	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	CCDC138_ENST00000412964.2_Missense_Mutation_p.E475G	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	475										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CATTCTGTGGAGAATAAACCA	0.373													8	32					0	0	0	0	G	109463294	A	G	109463294	3	3	400	1	0	0	0	0	1	0	0	0	2797	304	11	5	1470	5	CCDC138	2	109463294	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	12470903	109463294	133736079	22	76750											
CYTIP	9595	broad.mit.edu	37	chr2	158300475	158300475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctatacgctggcccagCgcagaagtccgccaaattgc	11	6	11	13	3	0	2	0	0	0	2	1	2	1	2	3	1	4	3	3	1	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:158300475C>A	ENST00000264192.3	-	1	179	c.58G>T	c.(58-60)Gct>Tct	p.A20S	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	20					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GCTGGCCCAGCGCAGAAGTCC	0.507													21	68					2.89027e-11	3.39082e-11	1	0	A	158300475	C	A	158300475	3	1	400	1	0	0	0	0	1	0	0	0	4239	768	27	3	1053	3	CYTIP	2	158300475	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	48837181	158300475	84898898	23	76751											
COL5A2	1290	broad.mit.edu	37	chr2	189916191	189916191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggttcccctaggggtcccGcaggtcctggagctccctag	4	8	14	15	2	0	0	0	0	0	0	4	1	4	1	5	5	1	3	5	5	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:189916191G>A	ENST00000374866.3	-	42	3060	c.2786C>T	c.(2785-2787)gCg>gTg	p.A929V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	929					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TAGGGGTCCCGCAGGTCCTGG	0.577													4	39					0	0	0	0	A	189916191	G	A	189916191	3	1	400	1	0	0	0	0	1	0	0	0	3727	1087	38	1	1765	1	COL5A2	2	189916191	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	31615716	189916191	53283182	24	76752											
TNS1	7145	broad.mit.edu	37	chr2	218700800	218700800	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctccggggagacacactGgacaggggagcgaaccccag	11	2	15	13	2	0	1	0	0	0	1	1	5	1	3	3	5	3	1	3	5	1	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:218700800G>A	ENST00000171887.4	-	18	3219	c.2767C>T	c.(2767-2769)Cag>Tag	p.Q923*	TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q923*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q923*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	923						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GAGACACACTGGACAGGGGAG	0.617													16	75					0	0	0	0	A	218700800	G	A	218700800	4	1	400	1	0	0	0	0	0	1	0	0	16437	1357	47	4	2504	4	TNS1	2	218700800	Nonsense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	28784609	218700800	24498573	25	76753											
DNAJB2	3300	broad.mit.edu	37	chr2	220146750	220146750	+	Frame_Shift_Del	DEL	T	T	-																															aggaggtcttccgggaattcTttgggagtggagaccctttt																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:220146750delT	ENST00000336576.5	+	5	607	c.319delT	c.(319-321)ttfs	p.F107fs	DNAJB2_ENST00000392086.4_Frame_Shift_Del_p.F107fs|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	107					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGGAATTCTTTGGGAGTGG	0.592													15	64	---	---	---	---					-	220146750	T	-	220146750	7	5	400	1	0	1	0	1	0	0	0	0	4656	1609	56	0	333	0	DNAJB2	2	220146750	Frame_Shift_Del	DEL	T	TCGA-F7-A50I-01A-11D-A28R-08	1445950	220146750	23052623	26	76754											
COL4A3	1285	broad.mit.edu	37	chr2	228169768	228169768	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcctggaccagctggagaAaaaggcaacaaaggttctaa	16	6	10	9	0	1	1	0	0	1	1	2	3	2	2	2	4	2	3	2	4	5	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:228169768A>G	ENST00000396578.3	+	47	4383	c.4221A>G	c.(4219-4221)gaA>gaG	p.E1407E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1407	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGCTGGAGAAAAAGGCAACA	0.473													5	30					0	0	0	0	G	228169768	A	G	228169768	2	3	400	1	0	0	0	0	0	0	0	1	3721	11	1	5		5	COL4A3	2	228169768	Silent	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	8023018	228169768	15029605	27	76755											
ECEL1	9427	broad.mit.edu	37	chr2	233348831	233348831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtggcttgtcgctgccCtccatctcctgtgccagctc	2	13	9	17	1	1	0	0	0	1	0	6	0	3	0	5	1	3	3	5	1	0	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:233348831C>G	ENST00000304546.1	-	7	1497	c.1287G>C	c.(1285-1287)gaG>gaC	p.E429D	ECEL1_ENST00000409941.1_Missense_Mutation_p.E429D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	429					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTCGCTGCCCTCCATCTCCT	0.627													4	94					0	0	0	0	G	233348831	C	G	233348831	3	3	400	1	0	0	0	0	1	0	0	0	4927	680	24	4	1088	4	ECEL1	2	233348831	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	5179063	233348831	9850542	28	76756											
SNED1	25992	broad.mit.edu	37	chr2	242004861	242004861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgacggctcctaccgcCgcacagactttgtggacagg	7	7	11	16	4	0	1	0	0	0	1	2	3	2	2	5	3	1	2	5	3	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:242004861C>T	ENST00000310397.8	+	21	2860	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C	SNED1_ENST00000405547.3_Missense_Mutation_p.R954C|SNED1_ENST00000401884.1_Missense_Mutation_p.R954C|SNED1_ENST00000342631.6_Missense_Mutation_p.R954C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	954	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTCCTACCGCCGCACAGACTT	0.637													25	71					0	0	0	0	T	242004861	C	T	242004861	3	4	400	1	0	0	0	0	1	0	0	0	14933	652	23	1	2942	1	SNED1	2	242004861	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	8656030	242004861	1194512	29	76757											
MTERFD2	130916	broad.mit.edu	37	chr2	242035790	242035790	+	Frame_Shift_Del	DEL	A	A	-																															ctgcttaatcttggttagtgAatactgcaagtactcactct																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:242035790delA	ENST00000391980.2	-	4	827	c.769delT	c.(769-771)cafs	p.S257fs	MTERFD2_ENST00000406593.1_Frame_Shift_Del_p.S69fs|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	257										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TTGGTTAGTGAATACTGCAAG	0.458													19	103	---	---	---	---					-	242035790	A	-	242035790	7	5	400	1	0	1	0	1	0	0	0	0	9990	246	9	0	380	0	MTERFD2	2	242035790	Frame_Shift_Del	DEL	A	TCGA-F7-A50I-01A-11D-A28R-08	30929	242035790	1163583	30	76758											
LRRN1	57633	broad.mit.edu	37	chr3	3886868	3886868	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactccaacaaattgaaagtTattgatagtcgctggtttga	14	13	8	6	1	0	3	0	3	0	0	2	3	1	3	1	1	2	3	1	1	6	5			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:3886868T>A	ENST00000319331.3	+	2	1304	c.543T>A	c.(541-543)gtT>gtA	p.V181V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	181						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATTGAAAGTTATTGATAGTC	0.398													16	66					0	0	0	0	A	3886868	T	A	3886868	2	1	400	1	0	0	0	0	0	0	0	1	9098	1741	61	5		5	LRRN1	3	3886868	Silent	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08		3886868	194135562	31	76759											
SLC6A6	6533	broad.mit.edu	37	chr3	14508054	14508054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagccacttttccattcGccatgctcctggtgctgctg	5	13	8	15	1	1	0	1	0	0	0	4	0	3	0	4	1	4	3	4	1	0	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:14508054G>A	ENST00000454876.2	+	7	1092	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	SLC6A6_ENST00000360861.3_Missense_Mutation_p.A255T			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	255					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTTTCCATTCGCCATGCTCCT	0.597													33	78					0	0	0	0	A	14508054	G	A	14508054	3	1	400	1	0	0	0	0	1	0	0	0	14776	1087	38	1	785	1	SLC6A6	3	14508054	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	10621186	14508054	183514376	32	76760											
NKIRAS1	28512	broad.mit.edu	37	chr3	23934814	23934815	+	Frame_Shift_Ins	INS	-	-	A																															ggtcgattttgtttcctaatINSaccacaattgctacctgaaa																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:23934814_23934815insA	ENST00000443659.2	-	4	1127_1128	c.350_351insT	c.(349-351)gttfs	p.V117fs	NKIRAS1_ENST00000415901.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000425478.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000412028.1_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000421515.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000437230.1_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000416026.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000388759.3_Frame_Shift_Ins_p.V117fs			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	117					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TGTTTCCTAATACCACAATTGC	0.431													24	61	---	---	---	---					A	23934815	-	A	23934814	7	5	400	1	0	1	1	0	0	0	0	0	10514	1393	49	0	231	0	NKIRAS1	3	23934814	Frame_Shift_Ins	INS	-	TCGA-F7-A50I-01A-11D-A28R-08	9426760	23934814	174087616	33	76761											
ARPP21	10777	broad.mit.edu	37	chr3	35835331	35835331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtcacaccgcccacccctCagaacaaccttaggctgatt	11	8	6	16	1	2	2	2	1	0	1	2	2	2	2	5	1	2	1	5	1	3	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:35835331C>G	ENST00000187397.4	+	20	2776	c.2320C>G	c.(2320-2322)Cag>Gag	p.Q774E	ARPP21_ENST00000458225.1_Missense_Mutation_p.Q775E|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q755E|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q755E|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q775E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	774						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCCACCCCTCAGAACAACCT	0.537													16	67					0	0	0	0	G	35835331	C	G	35835331	3	3	400	1	0	0	0	0	1	0	0	0	982	827	29	2	2403	2	ARPP21	3	35835331	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	11900517	35835331	162187099	34	76762											
ZNF619	285267	broad.mit.edu	37	chr3	40529725	40529725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgaatcctttgtctcactCcctgtaagccccgtcacgtt	6	12	6	17	3	2	0	2	0	1	0	5	1	4	0	5	0	1	2	5	0	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:40529725C>T	ENST00000447116.2	+	6	2151	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	ZNF619_ENST00000521353.1_Missense_Mutation_p.S615F|ZNF619_ENST00000456778.1_Missense_Mutation_p.S531F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.S575F|ZNF619_ENST00000429348.2_Missense_Mutation_p.S575F|ZNF619_ENST00000314686.5_Missense_Mutation_p.S559F|ZNF619_ENST00000522736.1_Missense_Mutation_p.S566F	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	615					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTGTCTCACTCCCTGTAAGCC	0.468													19	51					0	0	0	0	T	40529725	C	T	40529725	3	4	400	1	0	0	0	0	1	0	0	0	18138	855	30	2	1884	2	ZNF619	3	40529725	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	4694394	40529725	157492705	35	76763											
COL7A1	1294	broad.mit.edu	37	chr3	48610945	48610945	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatccacacacctagactcaCcttcaggccagaaggtcctt	11	9	6	15	0	2	2	2	0	0	2	4	2	4	2	5	2	0	0	5	2	3	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:48610945C>A	ENST00000328333.8	-	82	6726		c.e82+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTAGACTCACCTTCAGGCCA	0.577													29	83					5.60225e-13	6.6845e-13	1	0	A	48610945	C	A	48610945	5	1	400	1	0	0	0	0	0	0	1	0	3734	521	18	4	2363	4	COL7A1	3	48610945	Splice_Site	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	8081220	48610945	149411485	36	76764											
UBA3	9039	broad.mit.edu	37	chr3	69105055	69105055	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcaatagaggttaccGactagaaaacaaaattactt	16	12	6	7	1	2	2	1	0	1	2	2	3	2	2	1	1	3	2	1	1	9	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:69105055G>T	ENST00000361055.4	-	17	1304	c.1248_splice	c.e17-1	p.S417_splice	UBA3_ENST00000540295.1_Splice_Site_p.S240_splice|UBA3_ENST00000349511.4_Splice_Site_p.S403_splice|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000415609.2_Splice_Site_p.S376_splice	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	417	Interaction with UBE2M core domain.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AGAGGTTACCGACTAGAAAAC	0.264													15	43					6.31663e-08	7.20919e-08	1	0	T	69105055	G	T	69105055	5	4	400	1	0	0	0	0	0	0	1	0	16925	1072	37	3	149	3	UBA3	3	69105055	Splice_Site	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	20494110	69105055	128917375	37	76765											
TIGIT	201633	broad.mit.edu	37	chr3	114014592	114014592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggatcgagtggccccaGgtcccggcctgggcctcacc	6	6	13	16	2	2	0	2	0	0	0	4	2	3	1	6	5	0	0	6	5	1	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:114014592G>T	ENST00000481065.1	+	3	3078	c.463G>T	c.(463-465)Ggt>Tgt	p.G155C	TIGIT_ENST00000383671.3_Missense_Mutation_p.G88C|TIGIT_ENST00000486257.1_Missense_Mutation_p.G88C			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	88					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGTGGCCCCAGGTCCCGGCCT	0.592													13	76					0.00010058	0.000108317	1	0	T	114014592	G	T	114014592	3	4	400	1	0	0	0	0	1	0	0	0	15996	1000	35	4	268	4	TIGIT	3	114014592	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	44909537	114014592	84007838	38	76766											
HGD	3081	broad.mit.edu	37	chr3	120365841	120365841	+	Frame_Shift_Del	DEL	G	G	-																															tgaatgacgcagatctcattGggctgtacaagcatcttgcc																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:120365841delG	ENST00000283871.5	-	8	987	c.528delC	c.(526-528)ccfs	p.P176fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	176					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGATCTCATTGGGCTGTACAA	0.473													10	131	---	---	---	---					-	120365841	G	-	120365841	7	5	400	1	0	1	0	1	0	0	0	0	7134	1335	47	0	837	0	HGD	3	120365841	Frame_Shift_Del	DEL	G	TCGA-F7-A50I-01A-11D-A28R-08	6351249	120365841	77656589	39	76767											
ASTE1	28990	broad.mit.edu	37	chr3	130737356	130737356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagttacctaccagggcTgttgattatggcaatcaagg	10	12	10	9	0	1	1	1	1	0	0	2	1	2	1	3	3	2	4	3	3	5	5			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:130737356T>A	ENST00000264992.3	-	4	1948	c.1507A>T	c.(1507-1509)Agc>Tgc	p.S503C	ASTE1_ENST00000514044.1_Missense_Mutation_p.S503C	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	503					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CTACCAGGGCTGTTGATTATG	0.418													16	109					0	0	0	0	A	130737356	T	A	130737356	3	1	400	1	0	0	0	0	1	0	0	0	1066	1580	55	5	544	5	ASTE1	3	130737356	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	10371515	130737356	67285074	40	76768											
IFT80	57560	broad.mit.edu	37	chr3	159976338	159976338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttaaacctatactcttgCtggattggctgcttgatgat	8	16	9	8	0	1	2	0	2	1	0	1	3	1	3	1	2	4	4	1	2	4	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:159976338C>T	ENST00000326448.7	-	20	2741	c.2309G>A	c.(2308-2310)aGc>aAc	p.S770N	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S941N|IFT80_ENST00000483465.1_Missense_Mutation_p.S633N|IFT80_ENST00000496589.1_Missense_Mutation_p.S633N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	770						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATACTCTTGCTGGATTGGCT	0.348													4	58					0	0	0	0	T	159976338	C	T	159976338	3	4	400	1	0	0	0	0	1	0	0	0	7617	797	28	4	28	4	IFT80	3	159976338	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	29238982	159976338	38046092	41	76769											
ACTL6A	86	broad.mit.edu	37	chr3	179294649	179294649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccagcaaactggaaaaGaaaagagaagttgcctcagg	17	6	10	8	0	2	2	1	0	1	2	3	4	2	3	2	2	3	2	2	2	6	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:179294649G>T	ENST00000429709.2	+	8	929	c.716G>T	c.(715-717)aGa>aTa	p.R239I	ACTL6A_ENST00000450518.2_Missense_Mutation_p.R197I|ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R197I	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	239					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AACTGGAAAAGAAAAGAGAAG	0.423													13	87					1.05317e-09	1.22191e-09	1	0	T	179294649	G	T	179294649	3	4	400	1	0	0	0	0	1	0	0	0	198	942	33	2	746	2	ACTL6A	3	179294649	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	19318311	179294649	18727781	42	76770											
B3GNT5	84002	broad.mit.edu	37	chr3	182987743	182987743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcttacagatacctcataAatagctatgactttgtgaat	14	15	5	7	0	2	3	1	2	1	1	2	3	2	3	1	0	3	1	1	0	7	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:182987743A>C	ENST00000326505.3	+	2	687	c.157A>C	c.(157-159)Aat>Cat	p.N53H	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.N53H|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.N53H	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	53					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATACCTCATAAATAGCTATGA	0.398													19	101					0	0	0	0	C	182987743	A	C	182987743	3	2	400	1	0	0	0	0	1	0	0	0	1264	14	1	5	159	5	B3GNT5	3	182987743	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	3693094	182987743	15034687	43	76771											
CCDC50	152137	broad.mit.edu	37	chr3	191098047	191098047	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattgccagaaaactgcAagaagaagaacttttggtga	17	9	10	5	0	0	6	0	2	0	4	0	6	0	6	1	1	4	1	1	1	7	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:191098047A>T	ENST00000392455.3	+	6	1146	c.548A>T	c.(547-549)cAa>cTa	p.Q183L	CCDC50_ENST00000392456.3_Missense_Mutation_p.Q359L	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	183						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGAAAACTGCAAGAAGAAGAA	0.358													8	27					0	0	0	0	T	191098047	A	T	191098047	3	4	400	1	0	0	0	0	1	0	0	0	2847	130	5	5	1102	5	CCDC50	3	191098047	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	8110304	191098047	6924383	44	76772											
ATP13A5	344905	broad.mit.edu	37	chr3	193007714	193007714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaggctgctgcttcaCatagagaaatgcactgatct	13	10	8	10	0	2	2	1	1	1	1	2	3	2	2	1	1	4	4	1	1	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:193007714C>A	ENST00000342358.4	-	26	3100	c.2983G>T	c.(2983-2985)Gtg>Ttg	p.V995L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	995					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCTGCTTCACATAGAGAAAT	0.388													12	37					9.31168e-06	1.02919e-05	1	0	A	193007714	C	A	193007714	3	1	400	1	0	0	0	0	1	0	0	0	1131	478	17	4	691	4	ATP13A5	3	193007714	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	1909667	193007714	5014716	45	76773											
TNK2	10188	broad.mit.edu	37	chr3	195595561	195595561	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtcttggtcctcgctCacagggtcataggttggttc	6	12	14	9	1	3	0	2	0	1	0	6	0	4	0	1	6	0	3	1	6	2	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:195595561C>A	ENST00000333602.6	-	12	2180	c.1563G>T	c.(1561-1563)gtG>gtT	p.V521V	TNK2_ENST00000428187.1_Silent_p.V553V|TNK2_ENST00000392400.1_Silent_p.V521V|TNK2_ENST00000381916.2_Silent_p.V599V	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	521				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGTCCTCGCTCACAGGGTCAT	0.652													4	39					1.23904e-05	1.3552e-05	1	0	A	195595561	C	A	195595561	2	1	400	1	0	0	0	0	0	0	0	1	16412	813	29	2		2	TNK2	3	195595561	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	2587847	195595561	2426869	46	76774											
FGFRL1	53834	broad.mit.edu	37	chr4	1018192	1018192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccttccagtgcaaggtgcGcagcgacgtgaagccggtga	8	7	15	11	4	0	2	0	2	0	0	2	3	2	2	3	2	4	2	3	2	2	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:1018192G>A	ENST00000398484.2	+	7	1392	c.812G>A	c.(811-813)cGc>cAc	p.R271H	FGFRL1_ENST00000510644.1_Missense_Mutation_p.R271H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R271H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R271H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	271	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCAAGGTGCGCAGCGACGTG	0.662													4	113					0	0	0	0	A	1018192	G	A	1018192	3	1	400	1	0	0	0	0	1	0	0	0	5914	1087	38	1	830	1	FGFRL1	4	1018192	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		1018192	190136084	47	76775											
UBA6	55236	broad.mit.edu	37	chr4	68500167	68500167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatctcttgcccactgtaTggtatgttcaatagcagctg	8	15	8	10	0	2	0	1	0	1	0	3	0	2	0	1	1	3	5	1	1	5	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:68500167T>C	ENST00000322244.4	-	21	1971	c.1912A>G	c.(1912-1914)Ata>Gta	p.I638V		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	638					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCCCACTGTATGGTATGTTCA	0.323													7	34					0	0	0	0	C	68500167	T	C	68500167	3	2	400	1	0	0	0	0	1	0	0	0	16928	1464	51	5	1298	5	UBA6	4	68500167	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	67481975	68500167	122654109	48	76776											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916648	86916648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcaaaagtgaccacaGgagtgtgggaggtcgaagta	15	6	15	5	1	0	2	0	2	0	0	1	5	0	4	1	3	1	2	1	3	5	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:86916648G>T	ENST00000395184.1	+	9	2307	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R521M|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R519M	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	614					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGTGACCACAGGAGTGTGGGA	0.537													4	107					1.23904e-05	1.3552e-05	1	0	T	86916648	G	T	86916648	3	4	400	1	0	0	0	0	1	0	0	0	875	1000	35	4	1987	4	ARHGAP24	4	86916648	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	18416481	86916648	104237628	49	76777											
NDST4	64579	broad.mit.edu	37	chr4	115750948	115750948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattaaaaaattattacctCtggatccataggtggatatt	15	14	7	5	0	1	1	0	0	1	1	2	3	2	3	2	3	1	0	2	3	7	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:115750948C>G	ENST00000264363.2	-	13	3175	c.2497G>C	c.(2497-2499)Gag>Cag	p.E833Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	833	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTATTACCTCTGGATCCATA	0.343													5	26					0	0	0	0	G	115750948	C	G	115750948	3	3	400	1	0	0	0	0	1	0	0	0	10328	922	32	2	129	2	NDST4	4	115750948	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	28834300	115750948	75403328	50	76778											
MFSD8	256471	broad.mit.edu	37	chr4	128878731	128878731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttataatgctcttcagtctCtaaaatgtcccattctctag	10	16	4	11	0	4	0	1	0	3	0	7	0	5	0	1	0	1	1	1	0	5	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:128878731C>T	ENST00000296468.3	-	3	206	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR|MFSD8_ENST00000541133.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	27					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCTTCAGTCTCTAAAATGTCC	0.299													20	38					0	0	0	0	T	128878731	C	T	128878731	3	4	400	1	0	0	0	0	1	0	0	0	9607	922	32	2	1521	2	MFSD8	4	128878731	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	13127783	128878731	62275545	51	76779											
PCDH18	54510	broad.mit.edu	37	chr4	138452086	138452086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagcccagaatccttgTcctgaactctgaccaaagca	12	9	6	14	0	2	3	1	2	1	1	4	3	4	3	4	0	3	1	4	0	3	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:138452086T>C	ENST00000344876.4	-	1	1543	c.1157A>G	c.(1156-1158)gAc>gGc	p.D386G	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.D166G|PCDH18_ENST00000412923.2_Missense_Mutation_p.D386G|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	386	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGAATCCTTGTCCTGAACTCT	0.343													15	41					0	0	0	0	C	138452086	T	C	138452086	3	2	400	1	0	0	0	0	1	0	0	0	11584	1667	58	5	2266	5	PCDH18	4	138452086	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	9573355	138452086	52702190	52	76780											
INPP4B	8821	broad.mit.edu	37	chr4	143044493	143044493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactatcaaccccactgtgtGaagctgctgtaggaagcctg	10	10	10	11	0	1	1	1	1	0	0	1	2	1	2	3	1	5	3	3	1	6	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:143044493G>A	ENST00000513000.1	-	21	2402	c.1969C>T	c.(1969-1971)Cac>Tac	p.H657Y	INPP4B_ENST00000308502.4_Missense_Mutation_p.H657Y|INPP4B_ENST00000509777.1_Missense_Mutation_p.H657Y|INPP4B_ENST00000262992.4_Missense_Mutation_p.H657Y|INPP4B_ENST00000508116.1_Missense_Mutation_p.H657Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	657					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CCCACTGTGTGAAGCTGCTGT	0.363													5	46					0	0	0	0	A	143044493	G	A	143044493	3	1	400	1	0	0	0	0	1	0	0	0	7806	1290	45	2	833	2	INPP4B	4	143044493	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	4592407	143044493	48109783	53	76781											
MMAA	166785	broad.mit.edu	37	chr4	146567274	146567274	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctattctgttgtgtgaaggAgcgggatatgacataattct	10	14	12	5	1	2	2	0	2	2	0	2	4	2	4	0	2	1	2	0	2	4	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:146567274A>T	ENST00000281317.5	+	4	1909	c.699A>T	c.(697-699)ggA>ggT	p.G233G	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	233						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTGTGAAGGAGCGGGATATG	0.368													13	53					0	0	0	0	T	146567274	A	T	146567274	2	4	400	1	0	0	0	0	0	0	0	1	9708	291	11	5		5	MMAA	4	146567274	Silent	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	3522781	146567274	44587002	54	76782											
FGA	2243	broad.mit.edu	37	chr4	155507843	155507843	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttaatgccttccactcTgggggtaccttctgaagctg	6	14	10	11	0	3	1	0	1	3	0	4	1	4	1	3	2	3	3	3	2	3	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:155507843T>A	ENST00000302053.3	-	5	816	c.738A>T	c.(736-738)ccA>ccT	p.P246P	FGA_ENST00000403106.3_Silent_p.P246P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	246					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCACTCTGGGGGTACCT	0.473													13	74					0	0	0	0	A	155507843	T	A	155507843	2	1	400	1	0	0	0	0	0	0	0	1	5875	1567	55	5		5	FGA	4	155507843	Silent	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	8940569	155507843	35646433	55	76783											
FAT1	2195	broad.mit.edu	37	chr4	187557272	187557273	+	Frame_Shift_Ins	INS	-	-	A																															ctttccatcacagtaaaggtINSaaaaaatgattcttcaaatg																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:187557272_187557273insA	ENST00000441802.2	-	6	4298_4299	c.4089_4090insT	c.(4087-4092)ttccttfs	p.L1364fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1364	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGTAAAGGTAAAAAATGATT	0.46										HNSCC(5;0.00058)			10	35	---	---	---	---					A	187557273	-	A	187557272	7	5	400	1	0	1	1	0	0	0	0	0	5734	1638	57	0	9764	0	FAT1	4	187557272	Frame_Shift_Ins	INS	-	TCGA-F7-A50I-01A-11D-A28R-08	32049429	187557272	3597004	56	76784											
PAPD7	11044	broad.mit.edu	37	chr5	6746537	6746537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcattgaggaccccctgctgCcaggtaagggcgccctgatc	7	7	13	14	1	0	2	0	2	0	0	1	3	0	3	4	3	2	3	4	3	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:6746537C>T	ENST00000230859.6	+	7	835	c.706C>T	c.(706-708)Cca>Tca	p.P236S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	236	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCCTGCTGCCAGGTAAGGG	0.607													4	109					0	0	0	0	T	6746537	C	T	6746537	3	4	400	1	0	0	0	0	1	0	0	0	11497	739	26	4	728	4	PAPD7	5	6746537	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		6746537	174168723	57	76785											
FAM173B	134145	broad.mit.edu	37	chr5	10239183	10239183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttagcagaactcacaatgCgtccgtccccactaccgatg	10	10	7	14	3	1	1	1	0	0	1	3	2	3	1	4	0	4	1	4	0	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:10239183C>T	ENST00000511437.1	-	2	314	c.302G>A	c.(301-303)cGc>cAc	p.R101H	FAM173B_ENST00000510047.1_Missense_Mutation_p.R101H|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	101						integral to membrane		p.R101L(1)|p.R101H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCACAATGCGTCCGTCCCC	0.398													13	78					0	0	0	0	T	10239183	C	T	10239183	3	4	400	1	0	0	0	0	1	0	0	0	5535	768	27	1	415	1	FAM173B	5	10239183	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	3492646	10239183	170676077	58	76786											
DNAH5	1767	broad.mit.edu	37	chr5	13814732	13814732	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctcaagaataggactccaAtcaaggatagaagagctcat	17	7	8	9	0	3	3	3	0	0	3	4	5	4	5	2	2	1	1	2	2	7	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:13814732A>G	ENST00000265104.4	-	43	7316	c.7212T>C	c.(7210-7212)gaT>gaC	p.D2404D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2404	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGGACTCCAATCAAGGATAG	0.363									Kartagener syndrome				5	32					0	0	0	0	G	13814732	A	G	13814732	2	3	400	1	0	0	0	0	0	0	0	1	4641	98	4	5		5	DNAH5	5	13814732	Silent	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	3575549	13814732	167100528	59	76787											
UGT3A1	133688	broad.mit.edu	37	chr5	35957444	35957444	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggacttcctgggactgAtgggtgttcaacatggagcc	8	11	14	8	0	1	2	1	2	0	0	2	5	2	5	2	4	2	1	2	4	1	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:35957444A>G	ENST00000274278.3	-	5	1278	c.921T>C	c.(919-921)caT>caC	p.H307H	UGT3A1_ENST00000507113.1_Silent_p.H273H|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.H307H	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	307						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGGGACTGATGGGTGTTCA	0.488													7	63					0	0	0	0	G	35957444	A	G	35957444	2	3	400	1	0	0	0	0	0	0	0	1	17059	330	12	5		5	UGT3A1	5	35957444	Silent	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	22142712	35957444	144957816	60	76788											
C6	729	broad.mit.edu	37	chr5	41199878	41199878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacattaccactgtcaCagcgaaatttattcttgcag	15	12	5	9	1	2	0	1	0	1	0	2	1	2	0	1	0	4	1	1	0	6	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:41199878C>G	ENST00000263413.3	-	4	701	c.437G>C	c.(436-438)tGt>tCt	p.C146S	C6_ENST00000337836.5_Missense_Mutation_p.C146S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	146	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACCACTGTCACAGCGAAATTT	0.418													15	88					0	0	0	0	G	41199878	C	G	41199878	3	3	400	1	0	0	0	0	1	0	0	0	2336	478	17	4	2427	4	C6	5	41199878	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	5242434	41199878	139715382	61	76789											
MAP1B	4131	broad.mit.edu	37	chr5	71491562	71491562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaaggcaaggccgcagagGctgtcgctgcagctgtcggc	8	5	17	11	3	0	1	0	0	0	1	2	2	0	2	1	5	2	6	1	5	2	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:71491562G>T	ENST00000296755.7	+	5	2678	c.2380G>T	c.(2380-2382)Gct>Tct	p.A794S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	794						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCGCAGAGGCTGTCGCTGC	0.537													9	76					3.09899e-07	3.49885e-07	1	0	T	71491562	G	T	71491562	3	4	400	1	0	0	0	0	1	0	0	0	9297	1203	42	4	2398	4	MAP1B	5	71491562	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	30291684	71491562	109423698	62	76790											
MAN2A1	4124	broad.mit.edu	37	chr5	109153073	109153073	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttctctgcttcaggaaaAcctgtggaagttcaagtcag	10	12	11	8	0	4	0	3	0	1	0	5	2	4	2	1	2	2	3	1	2	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:109153073A>T	ENST00000261483.4	+	13	3095	c.2043A>T	c.(2041-2043)aaA>aaT	p.K681N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	681					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			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)		CTTCAGGAAAACCTGTGGAAG	0.443													23	57					0	0	0	0	T	109153073	A	T	109153073	3	4	400	1	0	0	0	0	1	0	0	0	9283	40	2	5	2093	5	MAN2A1	5	109153073	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	37661511	109153073	71762187	63	76791											
FBN2	2201	broad.mit.edu	37	chr5	127692978	127692978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatcttaccaatacagatCaatcctgtggagctgagttt	12	13	8	8	0	2	3	1	2	1	1	3	4	3	4	2	1	3	2	2	1	5	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:127692978C>G	ENST00000508053.1	-	26	3638	c.2664G>C	c.(2662-2664)ttG>ttC	p.L888F	FBN2_ENST00000262464.4_Missense_Mutation_p.L888F|FBN2_ENST00000508989.1_Missense_Mutation_p.L855F			P35556	FBN2_HUMAN	fibrillin 2	888	EGF-like 13; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATACAGATCAATCCTGTGG	0.423													5	20					0	0	0	0	G	127692978	C	G	127692978	3	3	400	1	0	0	0	0	1	0	0	0	5748	825	29	2	6258	2	FBN2	5	127692978	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	18539905	127692978	53222282	64	76792											
EGR1	1958	broad.mit.edu	37	chr5	137803316	137803316	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgcacccacacaggcgAaaagcccttcgcctgcgaca	11	4	8	18	4	0	0	0	0	0	0	2	2	1	0	4	1	2	1	4	1	2	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:137803316A>T	ENST00000239938.4	+	2	1450	c.1178A>T	c.(1177-1179)gAa>gTa	p.E393V		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	393					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACACAGGCGAAAAGCCCTTC	0.582													18	120					0	0	0	0	T	137803316	A	T	137803316	3	4	400	1	0	0	0	0	1	0	0	0	5007	246	9	5	1184	5	EGR1	5	137803316	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	10110338	137803316	43111944	65	76793											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308636	140308636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgctcagagctgctgtcGctctacagaggatctgaggt	7	11	13	10	2	3	3	1	1	2	2	4	4	3	4	0	2	4	4	0	2	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:140308636G>A	ENST00000253807.2	+	1	2159	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R720H|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTGTCGCTCTACAGAG	0.468													20	72					0	0	0	0	A	140308636	G	A	140308636	3	1	400	1	0	0	0	0	1	0	0	0	11603	1087	38	1	2161	1	PCDHAC1	5	140308636	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	2505320	140308636	40606624	66	76794											
ATP10B	23120	broad.mit.edu	37	chr5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctatattcatgcgcCgctcaatcttgctgcgtttg	7	15	9	10	3	4	1	2	0	2	1	4	1	4	1	1	0	3	3	1	0	3	5			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478													44	127					0	0	0	0	T	160067536	C	T	160067536	3	4	400	1	0	0	0	0	1	0	0	0	1121	652	23	1	3521	1	ATP10B	5	160067536	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	19758900	160067536	20847724	67	76795											
ZNF354C	30832	broad.mit.edu	37	chr5	178507032	178507032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatatgggaaacctttCatctgcagctcctcacttac	12	11	7	11	0	3	0	2	0	1	0	4	2	4	2	2	2	4	2	2	2	5	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:178507032C>A	ENST00000315475.6	+	5	1905	c.1599C>A	c.(1597-1599)ttC>ttA	p.F533L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383													32	56					3.57733e-08	4.10513e-08	1	0	A	178507032	C	A	178507032	3	1	400	1	0	0	0	0	1	0	0	0	17961	825	29	2	1613	2	ZNF354C	5	178507032	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	18439496	178507032	2408228	68	76796											
RREB1	6239	broad.mit.edu	37	chr6	7230564	7230564	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagcagcgcggccgagctGgtggacgccttctgcgcccc	5	6	15	15	5	1	0	0	0	1	0	1	2	1	1	4	3	4	3	4	3	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:7230564G>T	ENST00000379938.2	+	10	2769	c.2232G>T	c.(2230-2232)ctG>ctT	p.L744L	RREB1_ENST00000334984.6_Silent_p.L744L|RREB1_ENST00000349384.6_Silent_p.L744L|RREB1_ENST00000379933.3_Silent_p.L744L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	744					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGCCGAGCTGGTGGACGCCT	0.647													30	73					2.42023e-17	2.9897e-17	1	0	T	7230564	G	T	7230564	2	4	400	1	0	0	0	0	0	0	0	1	13764	1335	47	4		4	RREB1	6	7230564	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		7230564	163884503	69	76797											
GMNN	51053	broad.mit.edu	37	chr6	24781711	24781711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttcattatagctgtccGcaggcttgtccaaaaggaaa	11	13	9	8	1	1	0	1	0	0	0	3	1	3	1	2	2	1	4	2	2	5	5	rs150391376		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:24781711G>T	ENST00000230056.3	+	4	468	c.136G>T	c.(136-138)Gca>Tca	p.A46S	GMNN_ENST00000356509.3_Missense_Mutation_p.A46S	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	46					M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						ATAGCTGTCCGCAGGCTTGTC	0.343													7	29					0.000157383	0.000168625	1	0	T	24781711	G	T	24781711	3	4	400	1	0	0	0	0	1	0	0	0	6544	1087	38	3	146	3	GMNN	6	24781711	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	17551147	24781711	146333356	70	76798											
RGL2	5863	broad.mit.edu	37	chr6	33263887	33263887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcagcagggggatcgccgGggagggccaggggcttagga	7	4	22	8	2	1	0	1	0	0	0	2	3	1	3	2	9	1	2	2	9	1	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:33263887G>A	ENST00000497454.1	-	6	1181	c.686C>T	c.(685-687)cCc>cTc	p.P229L	RGL2_ENST00000444031.2_Missense_Mutation_p.P147L|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	229					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGGATCGCCGGGGAGGGCCAG	0.682													24	162					0	0	0	0	A	33263887	G	A	33263887	3	1	400	1	0	0	0	0	1	0	0	0	13359	1232	43	4	1699	4	RGL2	6	33263887	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	8482176	33263887	137851180	71	76799											
IP6K3	117283	broad.mit.edu	37	chr6	33690670	33690670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccaccgggagagctacCgtgggctgcctggggagcct	7	5	17	12	2	0	2	0	0	0	2	0	5	0	3	5	4	4	2	5	4	1	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:33690670C>T	ENST00000451316.1	-	7	1595	c.1060G>A	c.(1060-1062)Ggt>Agt	p.G354S	IP6K3_ENST00000293756.4_Missense_Mutation_p.G354S	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	354					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GGAGAGCTACCGTGGGCTGCC	0.562													54	60					0	0	0	0	T	33690670	C	T	33690670	3	4	400	1	0	0	0	0	1	0	0	0	7843	652	23	1	176	1	IP6K3	6	33690670	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	426783	33690670	137424397	72	76800											
XPO5	57510	broad.mit.edu	37	chr6	43538706	43538706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatctttaatatggttcTcctcttccaaaatgttcaat	11	16	5	9	0	4	0	1	0	3	0	6	1	5	0	2	1	1	3	2	1	5	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:43538706T>C	ENST00000265351.7	-	4	536	c.326A>G	c.(325-327)gAg>gGg	p.E109G		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	109					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AATATGGTTCTCCTCTTCCAA	0.408													33	143					0	0	0	0	C	43538706	T	C	43538706	3	2	400	1	0	0	0	0	1	0	0	0	17543	1551	54	5	3404	5	XPO5	6	43538706	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	9848036	43538706	127576361	73	76801											
RUNX2	860	broad.mit.edu	37	chr6	45390356	45390356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaccagccggcgcttcagcCccccctccagcagcctgcag	6	4	10	21	2	1	0	1	0	0	0	2	0	2	0	7	1	5	4	7	1	0	1	rs114654066	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:45390356C>A	ENST00000371438.1	+	2	443	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	RUNX2_ENST00000371436.6_Missense_Mutation_p.P29T|RUNX2_ENST00000541979.1_Missense_Mutation_p.P97T|RUNX2_ENST00000371432.3_Missense_Mutation_p.P15T|RUNX2_ENST00000576263.1_Missense_Mutation_p.P29T|RUNX2_ENST00000352853.5_Missense_Mutation_p.P97T|RUNX2_ENST00000465038.2_Missense_Mutation_p.P29T|RUNX2_ENST00000359524.5_Missense_Mutation_p.P15T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	29					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCGCTTCAGCCCCCCCTCCAG	0.642													38	76					1.41504e-22	1.76879e-22	1	0	A	45390356	C	A	45390356	3	1	400	1	0	0	0	0	1	0	0	0	13833	623	22	4	107	4	RUNX2	6	45390356	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	1851650	45390356	125724711	74	76802											
TDRD6	221400	broad.mit.edu	37	chr6	46657035	46657035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgggagaggctggtctcgGtcacaggtcggtgacctgaa	7	8	18	8	2	2	3	1	2	1	1	4	4	2	3	1	7	0	1	1	7	1	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:46657035G>A	ENST00000544460.1	+	1	1424	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	TDRD6_ENST00000316081.6_Silent_p.R390R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	390					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGGTCTCGGTCACAGGTCG	0.498													40	78					0	0	0	0	A	46657035	G	A	46657035	2	1	400	1	0	0	0	0	0	0	0	1	15828	1248	44	4		4	TDRD6	6	46657035	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	1266679	46657035	124458032	75	76803											
GPR116	221395	broad.mit.edu	37	chr6	46826191	46826191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatagacttcccggggctggGtggctcccagcgtgatgacc	6	9	14	12	2	0	3	0	2	0	1	2	3	2	3	3	4	1	2	3	4	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:46826191G>C	ENST00000283296.7	-	17	3737	c.3449C>G	c.(3448-3450)aCc>aGc	p.T1150S	GPR116_ENST00000362015.4_Missense_Mutation_p.T1150S|GPR116_ENST00000456426.2_Missense_Mutation_p.T1008S|GPR116_ENST00000265417.7_Missense_Mutation_p.T1150S|GPR116_ENST00000545669.1_Missense_Mutation_p.T579S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCGGGGCTGGGTGGCTCCCAG	0.552													4	40					0	0	0	0	C	46826191	G	C	46826191	3	2	400	1	0	0	0	0	1	0	0	0	6682	1261	44	4	611	4	GPR116	6	46826191	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	169156	46826191	124288876	76	76804											
IMPG1	3617	broad.mit.edu	37	chr6	76633398	76633398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaacactagttttgtatgCttgattttcagagtgatctg	9	19	8	5	0	2	3	1	2	1	1	2	3	2	3	0	0	2	3	0	0	3	9			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:76633398C>T	ENST00000369950.3	-	16	2458	c.2269G>A	c.(2269-2271)Gca>Aca	p.A757T	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	757					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTTTTGTATGCTTGATTTTCA	0.303													3	9					0	0	0	0	T	76633398	C	T	76633398	3	4	400	1	0	0	0	0	1	0	0	0	7781	797	28	4	132	4	IMPG1	6	76633398	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	29807207	76633398	94481669	77	76805											
SIM1	6492	broad.mit.edu	37	chr6	100838939	100838939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtctggagaactgacCacactatcttcatcccaatg	11	9	8	13	0	3	2	1	1	2	1	4	3	4	2	3	2	1	0	3	2	3	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:100838939C>T	ENST00000369208.3	-	12	2381	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	SIM1_ENST00000262901.4_Silent_p.V533V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	533	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGAACTGACCACACTATCTT	0.423													12	35					0	0	0	0	T	100838939	C	T	100838939	2	4	400	1	0	0	0	0	0	0	0	1	14411	581	21	4		4	SIM1	6	100838939	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	24205541	100838939	70276128	78	76806											
SOBP	55084	broad.mit.edu	37	chr6	107955180	107955180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgggcctccccttggcGtcccgcctcggagccctccc	2	7	11	21	4	0	0	0	0	0	0	5	1	3	1	7	3	1	1	7	3	0	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:107955180G>A	ENST00000317357.5	+	6	1791	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	378	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCCCTTGGCGTCCCGCCTCG	0.647													54	134					0	0	0	0	A	107955180	G	A	107955180	3	1	400	1	0	0	0	0	1	0	0	0	15000	1145	40	1	1154	1	SOBP	6	107955180	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	7116241	107955180	63159887	79	76807											
EPB41L2	2037	broad.mit.edu	37	chr6	131190864	131190864	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttgggcacctacattttCctggatcactgtttctactg	6	17	7	11	0	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	2	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:131190864C>A	ENST00000337057.3	-	15	2627	c.2446G>T	c.(2446-2448)Gaa>Taa	p.E816*	EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.E816*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.E194*|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000531410.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	816					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTACATTTTCCTGGATCACT	0.527													55	242					2.12129e-23	2.66748e-23	1	0	A	131190864	C	A	131190864	4	1	400	1	0	0	0	0	0	1	0	0	5191	864	30	2	591	2	EPB41L2	6	131190864	Nonsense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	23235684	131190864	39924203	80	76808											
QKI	9444	broad.mit.edu	37	chr6	163991740	163991740	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccagccgccaccggcaacTaacctatgaccttctgacct	10	7	6	18	2	1	2	0	2	1	0	1	2	1	2	7	1	3	1	7	1	3	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:163991740T>C	ENST00000361752.3	+	8	1575	c.1024T>C	c.(1024-1026)Taa>Caa	p.*342Q	QKI_ENST00000361195.2_Nonstop_Mutation_p.*334Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	0					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CACCGGCAACTAACCTATGAC	0.438													82	266					0	0	0	0	C	163991740	T	C	163991740	4	2	400	1	0	0	0	0	0	0	0	0	12955	1535	53	5	1158	5	QKI	6	163991740	Nonstop_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	32800876	163991740	7123327	81	76809											
PON1	5444	broad.mit.edu	37	chr7	95025660	95025660	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgccacgagcttcccCatggtctcggggtgcccagc	6	6	12	17	3	1	0	0	0	1	0	3	1	2	0	5	3	4	1	5	3	0	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:95025660C>T	ENST00000542556.1	-	1	13	c.3G>A	c.(1-3)atG>atA	p.M1I	PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I|PON3_ENST00000265627.5_Start_Codon_SNP_p.M1I			P27169	PON1_HUMAN	paraoxonase 1	1					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CGAGCTTCCCCATGGTCTCGG	0.706													30	93					0	0	0	0	T	95025660	C	T	95025660	1	4	400	1	0	0	0	0	0	0	0	0	12320	594	21	4		4	PON1	7	95025660	Translation_Start_Site	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		95025660	64113003	82	76810											
LMTK2	22853	broad.mit.edu	37	chr7	97833482	97833482	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacacctgaccgactcGgacatcgagcagggcggtga	10	5	12	14	4	1	2	1	2	0	0	3	5	1	3	2	3	1	1	2	3	0	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:97833482G>T	ENST00000297293.5	+	13	4760	c.4467G>T	c.(4465-4467)tcG>tcT	p.S1489S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1489				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGACCGACTCGGACATCGAGC	0.657													10	79					0.00010058	0.000108317	1	0	T	97833482	G	T	97833482	2	4	400	1	0	0	0	0	0	0	0	1	8914	1103	39	3		3	LMTK2	7	97833482	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	2807822	97833482	61305181	83	76811											
TRIP6	7205	broad.mit.edu	37	chr7	100466242	100466242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacactaccgccagcaccccGgctggcccagccttccccgt	6	6	8	21	3	0	0	0	0	0	0	1	0	1	0	8	2	4	2	8	2	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:100466242G>A	ENST00000200457.4	+	4	849	c.489G>A	c.(487-489)ccG>ccA	p.P163P		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	163					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCAGCACCCCGGCTGGCCCAG	0.711													14	52					0	0	0	0	A	100466242	G	A	100466242	2	1	400	1	0	0	0	0	0	0	0	1	16654	1103	39	1		1	TRIP6	7	100466242	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	2632760	100466242	58672421	84	76812											
CPA4	51200	broad.mit.edu	37	chr7	129950640	129950640	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaggaaagggagccagCgacaacccttgctccgaagt	13	4	11	13	2	0	0	0	0	0	0	1	4	1	2	4	2	5	1	4	2	4	1	rs144517019	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:129950640C>T	ENST00000222482.4	+	9	835	c.807C>T	c.(805-807)agC>agT	p.S269S	CPA4_ENST00000445470.2_Silent_p.S236S|CPA4_ENST00000493259.1_Silent_p.S165S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	269					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGGGAGCCAGCGACAACCCTT	0.498													7	78					0	0	0	0	T	129950640	C	T	129950640	2	4	400	1	0	0	0	0	0	0	0	1	3822	767	27	1		1	CPA4	7	129950640	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	29484398	129950640	29188023	85	76813											
LRGUK	136332	broad.mit.edu	37	chr7	133884068	133884068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggatatttgcggagaaaaGgattattcagtcgtgcagaa	14	10	13	4	2	1	2	1	0	0	2	2	5	1	4	0	3	2	1	0	3	5	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:133884068G>C	ENST00000285928.2	+	14	1711	c.1642G>C	c.(1642-1644)Gga>Cga	p.G548R		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	548	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GCGGAGAAAAGGATTATTCAG	0.363													13	124					0	0	0	0	C	133884068	G	C	133884068	3	2	400	1	0	0	0	0	1	0	0	0	9007	1001	35	4	1696	4	LRGUK	7	133884068	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	3933428	133884068	25254595	86	76814											
AKR1B10	57016	broad.mit.edu	37	chr7	134221420	134221420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggccatggaggagctggtgGatgaggggctggtgaaagcc	9	6	20	6	0	0	2	0	2	0	0	0	5	0	5	2	8	2	2	2	8	1	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:134221420G>C	ENST00000359579.4	+	5	768	c.448G>C	c.(448-450)Gat>Cat	p.D150H	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	150					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGAGCTGGTGGATGAGGGGCT	0.517													7	79					0	0	0	0	C	134221420	G	C	134221420	3	2	400	1	0	0	0	0	1	0	0	0	467	1174	41	2	466	2	AKR1B10	7	134221420	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	337352	134221420	24917243	87	76815											
OR2A25	392138	broad.mit.edu	37	chr7	143771499	143771499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccatgtacttcttcctcTcacacctggcggtcgtcgac	5	11	7	18	3	2	0	1	0	2	0	6	1	3	0	4	2	1	1	4	2	1	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:143771499T>C	ENST00000408898.2	+	1	225	c.187T>C	c.(187-189)Tca>Cca	p.S63P		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTCTTCCTCTCACACCTGGC	0.577													7	112					0	0	0	0	C	143771499	T	C	143771499	3	2	400	1	0	0	0	0	1	0	0	0	11049	1551	54	5	189	5	OR2A25	7	143771499	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	9550079	143771499	15367164	88	76816											
MCM4	4173	broad.mit.edu	37	chr8	48874624	48874624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatagctatccctcttGactttgatgttagttcacca	8	19	5	9	0	2	2	1	2	1	0	3	2	3	2	2	0	1	3	2	0	4	9			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:48874624G>T	ENST00000262105.2	+	3	456	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	MCM4_ENST00000523944.1_Missense_Mutation_p.D83Y	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	83					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TATCCCTCTTGACTTTGATGT	0.453													7	93					0.27861	0.27861	1	0	T	48874624	G	T	48874624	3	4	400	1	0	0	0	0	1	0	0	0	9458	1290	45	2	257	2	MCM4	8	48874624	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		48874624	97489398	89	76817											
SNTG1	54212	broad.mit.edu	37	chr8	51571223	51571224	+	Splice_Site	INS	-	-	GTAT																															ttatgtgcaagatcctcaagINSgtatgatcaatatgtagtca																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:51571223_51571224insGTAT	ENST00000522124.1	+	15	1699	c.1038_splice	c.e15+1	p.K346_splice	SNTG1_ENST00000276467.5_Splice_Site_p.K346_splice|SNTG1_ENST00000518864.1_Splice_Site_p.K346_splice|SNTG1_ENST00000517473.1_Splice_Site_p.K346_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATCCTCAAGGTATGATCAAT	0.371													7	60	---	---	---	---					GTAT	51571224	-	GTAT	51571223	8	5	400	1	0	1	1	0	0	0	1	0	14962	1014	35	0	1088	0	SNTG1	8	51571223	Splice_Site	INS	-	TCGA-F7-A50I-01A-11D-A28R-08	2696599	51571223	94792799	90	76818											
ST18	9705	broad.mit.edu	37	chr8	53092796	53092796	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcattagcagggattTccttttgttgactggaaccc	7	14	11	9	0	1	1	1	1	0	0	2	3	2	3	2	3	2	3	2	3	2	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:53092796T>A	ENST00000276480.7	-	9	846	c.163A>T	c.(163-165)Aaa>Taa	p.K55*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	55						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCAGGGATTTCCTTTTGTTG	0.493													16	161					0	0	0	0	A	53092796	T	A	53092796	4	1	400	1	0	0	0	0	0	1	0	0	15302	1792	62	5	3052	5	ST18	8	53092796	Nonsense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	1521573	53092796	93271226	91	76819											
TTPA	7274	broad.mit.edu	37	chr8	63973974	63973974	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttgtagttgttcccaTgcatgtgaatctgaaatagc	9	17	9	6	0	1	2	0	2	1	0	2	2	2	2	1	0	2	5	1	0	4	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:63973974T>A	ENST00000260116.4	-	5	705	c.674A>T	c.(673-675)cAt>cTt	p.H225L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	225	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GTTGTTCCCATGCATGTGAAT	0.388													3	37					0	0	0	0	A	63973974	T	A	63973974	3	1	400	1	0	0	0	0	1	0	0	0	16832	1464	51	5	166	5	TTPA	8	63973974	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	10881178	63973974	82390048	92	76820											
ARFGEF1	10565	broad.mit.edu	37	chr8	68150614	68150614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattcatcaggagcctgatCttttgttccagtaagagatc	12	13	8	8	0	3	2	2	1	1	1	5	4	4	3	2	1	1	2	2	1	2	5			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:68150614C>G	ENST00000262215.3	-	22	3642	c.3253G>C	c.(3253-3255)Gat>Cat	p.D1085H	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D539H|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1085					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.D1085Y(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGAGCCTGATCTTTTGTTCCA	0.398													4	77					0	0	0	0	G	68150614	C	G	68150614	3	3	400	1	0	0	0	0	1	0	0	0	854	913	32	2	2368	2	ARFGEF1	8	68150614	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	4176640	68150614	78213408	93	76821											
TRPA1	8989	broad.mit.edu	37	chr8	72963052	72963052	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctatcatttctgtaatTggacatttattgcctggaga	10	18	7	6	0	3	1	1	0	2	1	3	3	3	2	1	2	1	1	1	2	4	9			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:72963052T>A	ENST00000262209.4	-	15	2073	c.1866A>T	c.(1864-1866)ccA>ccT	p.P622P	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	622						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTCTGTAATTGGACATTTAT	0.333													7	61					0	0	0	0	A	72963052	T	A	72963052	2	1	400	1	0	0	0	0	0	0	0	1	16672	1799	63	5		5	TRPA1	8	72963052	Silent	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	4812438	72963052	73400970	94	76822											
HNF4G	3174	broad.mit.edu	37	chr8	76472624	76472624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatccaatgcatccacAtttgtctcaagacccattaa	13	11	3	14	0	2	1	2	0	1	1	5	1	4	1	4	0	1	1	4	0	3	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:76472624A>G	ENST00000396423.2	+	9	1263	c.1139A>G	c.(1138-1140)cAt>cGt	p.H380R	HNF4G_ENST00000354370.1_Missense_Mutation_p.H343R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	343					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATGCATCCACATTTGTCTCAA	0.388													5	39					0	0	0	0	G	76472624	A	G	76472624	3	3	400	1	0	0	0	0	1	0	0	0	7304	217	8	5	1173	5	HNF4G	8	76472624	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	3509572	76472624	69891398	95	76823											
CNBD1	168975	broad.mit.edu	37	chr8	88297017	88297017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaattcttaaaatcccaGcaaagggatatgcaaagata	18	9	8	6	0	1	2	0	1	1	1	2	3	2	3	1	1	2	2	1	1	7	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:88297017G>C	ENST00000518476.1	+	7	934	c.883G>C	c.(883-885)Gca>Cca	p.A295P		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	295										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TAAAATCCCAGCAAAGGGATA	0.363													6	5					0	0	0	0	C	88297017	G	C	88297017	3	2	400	1	0	0	0	0	1	0	0	0	3621	971	34	4	909	4	CNBD1	8	88297017	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	11824393	88297017	58067005	96	76824											
OC90	729330	broad.mit.edu	37	chr8	133044222	133044222	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaccgggatgtcagacaaaAgagcatctctccaagctgtg	12	7	11	11	1	2	2	1	0	1	2	4	3	3	3	2	1	2	3	2	1	3	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:133044222A>T	ENST00000262283.5	-	16	1672	c.1573T>A	c.(1573-1575)Ttt>Att	p.F525I	OC90_ENST00000603859.1_Missense_Mutation_p.F313I|OC90_ENST00000254627.3_Missense_Mutation_p.F313I|OC90_ENST00000443356.2_Missense_Mutation_p.F329I			Q02509	OC90_HUMAN	otoconin 90	329					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GTCAGACAAAAGAGCATCTCT	0.522													11	147					0	0	0	0	T	133044222	A	T	133044222	3	4	400	1	0	0	0	0	1	0	0	0	10885	72	3	5	508	5	OC90	8	133044222	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	44747205	133044222	13319800	97	76825											
DENND3	22898	broad.mit.edu	37	chr8	142151311	142151311	+	Missense_Mutation	SNP	T	T	C																															ttttcatgtaggatgagtacTgtttctacaatggcaaaacg																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:142151311T>C	ENST00000519811.1	+	4	581	c.511T>C	c.(511-513)Tgt>Cgt	p.C171R	DENND3_ENST00000262585.2_Missense_Mutation_p.C91R|DENND3_ENST00000424248.1_Missense_Mutation_p.C91R|DENND3_ENST00000518347.1_Missense_Mutation_p.C171R			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	91	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGAGTACTGTTTCTACAA	0.522													9	129					0	0	0	0	C	142151311	T	C	142151311	3	2	400	1	0	0	0	0	1	0	0	0	4469	1580	55	5	281	5	DENND3	8	142151311	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	9107089	142151311	4212711	98	76826	1028	2									
DENND3	22898	broad.mit.edu	37	chr8	142151312	142151312	+	Missense_Mutation	SNP	G	G	T																															tttcatgtaggatgagtactGtttctacaatggcaaaacgc																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:142151312G>T	ENST00000519811.1	+	4	582	c.512G>T	c.(511-513)tGt>tTt	p.C171F	DENND3_ENST00000262585.2_Missense_Mutation_p.C91F|DENND3_ENST00000424248.1_Missense_Mutation_p.C91F|DENND3_ENST00000518347.1_Missense_Mutation_p.C171F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	91	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GATGAGTACTGTTTCTACAAT	0.527													9	130					0.00621372	0.00642798	1	0	T	142151312	G	T	142151312	3	4	400	1	0	0	0	0	1	0	0	0	4469	1377	48	4	282	4	DENND3	8	142151312	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	1	142151312	4212710	99	76827	1028	2									
BAI1	575	broad.mit.edu	37	chr8	143558824	143558824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctttcgggatcgcacgcGcacctgcaggcccccccagt	5	7	12	17	4	0	0	0	0	0	0	2	1	0	1	4	3	1	4	4	3	0	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:143558824G>A	ENST00000517894.1	+	6	2195	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	BAI1_ENST00000323289.5_Missense_Mutation_p.R434H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	434	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GATCGCACGCGCACCTGCAGG	0.642													16	129					0	0	0	0	A	143558824	G	A	143558824	3	1	400	1	0	0	0	0	1	0	0	0	1302	1087	38	1	1319	1	BAI1	8	143558824	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	1407512	143558824	2805198	100	76828											
CDKN2A	1029	broad.mit.edu	37	chr9	21971208	21971208	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcccatcatcatgacCtgccagagagaacagaatgg	12	6	11	12	1	2	4	2	1	0	3	2	5	2	4	3	1	3	1	3	1	2	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:21971208C>T	ENST00000579755.1	-	2	486		c.e2-1		CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	13					0	0	0	0	T	21971208	C	T	21971208	5	4	400	1	0	0	0	0	0	0	1	0	3190	695	24	4	328	4	CDKN2A	9	21971208	Splice_Site	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		21971208	119242223	101	76829											
TAF1L	138474	broad.mit.edu	37	chr9	32631588	32631588	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttgataagttcttcattAtcattatgaatgactgtctt	11	18	5	7	0	4	3	2	3	2	0	4	3	4	3	1	0	0	1	1	0	4	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:32631588A>G	ENST00000242310.4	-	1	4079	c.3990T>C	c.(3988-3990)gaT>gaC	p.D1330D		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1330					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTTCTTCATTATCATTATGAA	0.423													19	260					0	0	0	0	G	32631588	A	G	32631588	2	3	400	1	0	0	0	0	0	0	0	1	15614	446	16	5		5	TAF1L	9	32631588	Silent	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	10660380	32631588	108581843	102	76830											
TJP2	9414	broad.mit.edu	37	chr9	71835869	71835869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcccctggatcaggatGaccgggcttttgaggtgatg	6	10	14	11	1	1	3	1	3	0	0	2	5	2	5	4	4	0	1	4	4	0	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:71835869G>T	ENST00000377245.4	+	5	617	c.409G>T	c.(409-411)Gac>Tac	p.D137Y	TJP2_ENST00000265384.7_Missense_Mutation_p.D137Y|TJP2_ENST00000348208.4_Missense_Mutation_p.D137Y|TJP2_ENST00000453658.2_Missense_Mutation_p.D114Y|TJP2_ENST00000539225.1_Missense_Mutation_p.D168Y|TJP2_ENST00000535702.1_Missense_Mutation_p.D141Y	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	137					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGATCAGGATGACCGGGCTTT	0.612													4	18					0.00024832	0.000264707	1	0	T	71835869	G	T	71835869	3	4	400	1	0	0	0	0	1	0	0	0	16024	1290	45	2	584	2	TJP2	9	71835869	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	39204281	71835869	69377562	103	76831											
TLE4	7091	broad.mit.edu	37	chr9	82321747	82321747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcaagaaagatgcccCgattagtccagcctctattg	10	10	8	13	1	2	2	1	0	1	2	3	3	3	2	5	0	3	1	5	0	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:82321747C>T	ENST00000376520.4	+	11	1697	c.869C>T	c.(868-870)cCg>cTg	p.P290L	TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Missense_Mutation_p.P290L|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.P265L|TLE4_ENST00000376537.4_Missense_Mutation_p.P290L			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										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						AAAGATGCCCCGATTAGTCCA	0.517													16	183					0	0	0	0	T	82321747	C	T	82321747	3	4	400	1	0	0	0	0	1	0	0	0	16035	652	23	1	911	1	TLE4	9	82321747	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	10485878	82321747	58891684	104	76832											
BICD2	23299	broad.mit.edu	37	chr9	95482892	95482892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctgttcttctgttcgCgctccgtcttcagggtctcc	2	14	11	14	3	5	0	1	0	4	0	8	0	6	0	2	2	0	5	2	2	0	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:95482892C>T	ENST00000356884.6	-	4	819	c.752G>A	c.(751-753)cGc>cAc	p.R251H	BICD2_ENST00000375512.3_Missense_Mutation_p.R251H	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	251					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTGTTCGCGCTCCGTCTT	0.587													12	66					0	0	0	0	T	95482892	C	T	95482892	3	4	400	1	0	0	0	0	1	0	0	0	1434	768	27	1	1841	1	BICD2	9	95482892	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	13161145	95482892	45730539	105	76833											
STX17	55014	broad.mit.edu	37	chr9	102722405	102722405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttaattgaacttagcCaactggtcactgacttctct	11	13	7	10	0	2	2	1	2	1	0	3	3	2	3	1	2	3	0	1	2	4	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:102722405C>T	ENST00000259400.6	+	6	686	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	STX17_ENST00000534052.1_Nonsense_Mutation_p.Q184*|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Nonsense_Mutation_p.Q184*	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	184	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TGAACTTAGCCAACTGGTCAC	0.333													12	60					0	0	0	0	T	102722405	C	T	102722405	4	4	400	1	0	0	0	0	0	1	0	0	15430	595	21	4	568	4	STX17	9	102722405	Nonsense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	7239513	102722405	38491026	106	76834											
ZDHHC12	84885	broad.mit.edu	37	chr9	131484290	131484290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgtgcatcactcaccaGcaccaggcagtatctgcagc	9	8	9	15	1	3	0	2	0	1	0	4	0	4	0	3	1	4	5	3	1	1	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:131484290G>T	ENST00000372667.5	-	3	384	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	ZDHHC12_ENST00000372672.2_Missense_Mutation_p.L105M|ZDHHC12_ENST00000372663.4_Missense_Mutation_p.L105M|ZDHHC12_ENST00000467312.1_5'UTR			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	105						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						TCACTCACCAGCACCAGGCAG	0.627													9	66					9.70103e-10	1.13179e-09	1	0	T	131484290	G	T	131484290	3	4	400	1	0	0	0	0	1	0	0	0	17697	962	34	4	502	4	ZDHHC12	9	131484290	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	28761885	131484290	9729141	107	76835											
NOTCH1	4851	broad.mit.edu	37	chr9	139393392	139393392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagccccgttcttcaggaGcacaactgcggcatccacat	9	9	9	14	2	2	0	1	0	1	0	3	1	3	1	3	2	4	4	3	2	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:139393392G>A	ENST00000277541.6	-	33	6214	c.6139C>T	c.(6139-6141)Ctc>Ttc	p.L2047F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2047					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTTCAGGAGCACAACTGCG	0.592			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			20	175					0	0	0	0	A	139393392	G	A	139393392	3	1	400	1	0	0	0	0	1	0	0	0	10617	971	34	4	1536	4	NOTCH1	9	139393392	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	7909102	139393392	1820039	108	76836											
LARP4B	23185	broad.mit.edu	37	chr10	875361	875361	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtgcgttgctgaccaCgtctggggagtgatcaggct	6	11	15	9	2	2	2	1	2	1	0	2	3	2	3	1	3	3	4	1	3	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:875361C>A	ENST00000316157.3	-	10	1129	c.1089G>T	c.(1087-1089)acG>acT	p.T363T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	363							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTGCTGACCACGTCTGGGGAG	0.507													10	20					0.000442599	0.000467065	1	0	A	875361	C	A	875361	2	1	400	1	0	0	0	0	0	0	0	1	8684	523	19	3		3	LARP4B	10	875361	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		875361	134659386	109	76837											
PARD3	56288	broad.mit.edu	37	chr10	34400150	34400150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtctgttcagcctcgCaacctgagaaggggaggggg	9	7	16	9	1	2	2	1	2	1	1	3	4	2	3	2	4	2	2	2	4	3	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:34400150C>T	ENST00000374789.3	-	25	4343	c.4018G>A	c.(4018-4020)Gcg>Acg	p.A1340T	PARD3_ENST00000346874.4_Missense_Mutation_p.A1303T|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228T|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280T|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337T|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250T|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294T|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTCAGCCTCGCAACCTGAGAA	0.542													16	40					0	0	0	0	T	34400150	C	T	34400150	3	4	400	1	0	0	0	0	1	0	0	0	11514	710	25	4	56	4	PARD3	10	34400150	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	33524789	34400150	101134597	110	76838											
ZMIZ1	57178	broad.mit.edu	37	chr10	81064919	81064919	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtctgtctgtctgcAgtgctttgatctggagtcat	4	17	12	8	0	6	1	1	1	5	0	6	2	6	2	0	1	2	2	0	1	0	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:81064919A>G	ENST00000334512.5	+	20	2858		c.e20-1			NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1						transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GTCTGTCTGCAGTGCTTTGAT	0.552													14	50					0	0	0	0	G	81064919	A	G	81064919	5	3	400	1	0	0	0	0	0	0	1	0	17791	202	7	5	2347	5	ZMIZ1	10	81064919	Splice_Site	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	46664769	81064919	54469828	111	76839											
FAM178A	55719	broad.mit.edu	37	chr10	102697158	102697159	+	Splice_Site	INS	-	-	AT																															catttctctgcttttgacagINSatgatgtcagttcatacaga																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:102697158_102697159insAT	ENST00000238961.3	+	10	2584_2585		c.e10-1		FAM178A_ENST00000370269.3_Splice_Site	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		GCTTTTGACAGATGATGTCAGT	0.322													9	75	---	---	---	---					AT	102697159	-	AT	102697158	8	5	400	1	0	1	1	0	0	0	1	0	5544	956	33	0	2474	0	FAM178A	10	102697158	Splice_Site	INS	-	TCGA-F7-A50I-01A-11D-A28R-08	21632239	102697158	32837589	112	76840											
CYP17A1	1586	broad.mit.edu	37	chr10	104591347	104591347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgataacttctgtgcccttGtccacagcaaactcaccgat	11	11	6	13	1	2	1	1	1	1	0	3	2	3	1	3	0	4	1	3	0	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:104591347G>A	ENST00000369887.3	-	7	1332	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D		NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	387					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CTGTGCCCTTGTCCACAGCAA	0.542													14	35					0	0	0	0	A	104591347	G	A	104591347	2	1	400	1	0	0	0	0	0	0	0	1	4179	1368	48	4		4	CYP17A1	10	104591347	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	1894189	104591347	30943400	113	76841											
CNNM2	54805	broad.mit.edu	37	chr10	104679569	104679569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggagctccgcaccaaGacggtggaggacgtgatgac	9	5	16	11	4	0	3	0	2	0	1	1	6	1	6	2	4	1	3	2	4	1	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:104679569G>T	ENST00000369878.3	+	1	1456	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N	CNNM2_ENST00000369875.3_Missense_Mutation_p.K444N|CNNM2_ENST00000433628.2_Missense_Mutation_p.K444N|CNNM2_ENST00000457502.2_Missense_Mutation_p.K202N	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	444					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCGCACCAAGACGGTGGAGG	0.582													6	63					0.0215528	0.0220784	1	0	T	104679569	G	T	104679569	3	4	400	1	0	0	0	0	1	0	0	0	3643	933	33	2	1334	2	CNNM2	10	104679569	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	88222	104679569	30855178	114	76842											
ADD3	120	broad.mit.edu	37	chr10	111893128	111893128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttcatctccatggaagtgCctgtcatggtagtaaatggc	9	12	11	9	0	3	0	2	0	1	0	4	1	3	1	2	3	1	3	2	3	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:111893128C>T	ENST00000277900.8	+	14	2142	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ADD3_ENST00000356080.4_Missense_Mutation_p.P625S|ADD3_ENST00000360162.3_Missense_Mutation_p.P593S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	625						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CATGGAAGTGCCTGTCATGGT	0.403													12	133					0	0	0	0	T	111893128	C	T	111893128	3	4	400	1	0	0	0	0	1	0	0	0	306	739	26	4	1927	4	ADD3	10	111893128	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	7213559	111893128	23641619	115	76843											
KCNK18	338567	broad.mit.edu	37	chr10	118969271	118969271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctcagatcatcatcagtGctgaagagcttccaggcccc	9	9	8	15	0	4	3	4	1	0	2	6	3	6	3	4	1	2	2	4	1	1	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:118969271G>C	ENST00000334549.1	+	3	616	c.616G>C	c.(616-618)Gct>Cct	p.A206P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	206						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATCATCAGTGCTGAAGAGCT	0.542													14	97					0	0	0	0	C	118969271	G	C	118969271	3	2	400	1	0	0	0	0	1	0	0	0	8118	1319	46	4	626	4	KCNK18	10	118969271	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	7076143	118969271	16565476	116	76844											
EBF3	253738	broad.mit.edu	37	chr10	131755566	131755566	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtttcgtttctattgccAcaacttttcttgtcacagca	7	16	7	11	2	3	0	1	0	2	0	4	0	3	0	1	1	3	3	1	1	2	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:131755566A>G	ENST00000368648.3	-	6	582	c.510T>C	c.(508-510)tgT>tgC	p.C170C	EBF3_ENST00000355311.5_Silent_p.C170C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	170					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			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)		TTCTATTGCCACAACTTTTCT	0.388													8	78					0	0	0	0	G	131755566	A	G	131755566	2	3	400	1	0	0	0	0	0	0	0	1	4918	157	6	5		5	EBF3	10	131755566	Silent	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	12786295	131755566	3779181	117	76845											
PHRF1	57661	broad.mit.edu	37	chr11	592631	592631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaggtgtgcggcaggagcGaccgtgaggacaggcttttg	7	8	19	7	3	0	2	0	2	0	0	0	5	0	4	1	5	2	2	1	5	0	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:592631G>A	ENST00000264555.5	+	6	705	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PHRF1_ENST00000533464.1_Missense_Mutation_p.D189N|PHRF1_ENST00000416188.2_Missense_Mutation_p.D193N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D192N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	193							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGGCAGGAGCGACCGTGAGGA	0.647													33	82					0	0	0	0	A	592631	G	A	592631	3	1	400	1	0	0	0	0	1	0	0	0	11933	1058	37	1	595	1	PHRF1	11	592631	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		592631	134413885	118	76846											
OMP	4975	broad.mit.edu	37	chr11	76814046	76814046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcggagtctgtgtaccGcctcaacttcacccagcagc	8	7	10	16	2	3	0	2	0	1	0	3	1	3	1	4	1	5	2	4	1	2	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:76814046G>A	ENST00000529803.1	+	1	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	54					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCTGTGTACCGCCTCAACTTC	0.637													19	42					0	0	0	0	A	76814046	G	A	76814046	3	1	400	1	0	0	0	0	1	0	0	0	10938	1087	38	1	163	1	OMP	11	76814046	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	76221415	76814046	58192470	119	76847											
PICALM	8301	broad.mit.edu	37	chr11	85692227	85692227	+	Frame_Shift_Del	DEL	C	C	-																															cctttggttgccagttagatCccccagttaacttcttttca																										TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:85692227delC	ENST00000526033.1	-	17	2019	c.1703delG	c.(1702-1704)gafs	p.G568fs	PICALM_ENST00000393346.3_Frame_Shift_Del_p.G575fs|PICALM_ENST00000356360.5_Frame_Shift_Del_p.G575fs|PICALM_ENST00000532317.1_Frame_Shift_Del_p.G525fs|PICALM_ENST00000528398.1_Frame_Shift_Del_p.G474fs	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	575					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCAGTTAGATCCCCCAGTTAA	0.358			T	"MLLT10, MLL"	"TALL, AML, "								9	44	---	---	---	---					-	85692227	C	-	85692227	7	5	400	1	0	1	0	1	0	0	0	0	11952	855	30	0	278	0	PICALM	11	85692227	Frame_Shift_Del	DEL	C	TCGA-F7-A50I-01A-11D-A28R-08	8878181	85692227	49314289	120	76848											
DSCAML1	57453	broad.mit.edu	37	chr11	117376424	117376424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggaggcgggtgggaattCgaagggctggatcagagggg	9	6	22	4	2	1	1	1	0	0	1	2	6	1	4	0	8	0	1	0	8	2	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:117376424C>T	ENST00000321322.6	-	9	1988	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E393K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	603	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGGGAATTCGAAGGGCTGG	0.637													7	39					0	0	0	0	T	117376424	C	T	117376424	3	4	400	1	0	0	0	0	1	0	0	0	4805	893	31	1	4454	1	DSCAML1	11	117376424	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	31684197	117376424	17630092	121	76849											
GRAMD1B	57476	broad.mit.edu	37	chr11	123474230	123474230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactacgtgccccctgacGacgacttcaacacaatgggg	11	6	11	13	3	1	1	1	1	0	0	1	4	1	2	2	3	3	0	2	3	3	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:123474230G>T	ENST00000529750.1	+	8	1045	c.718G>T	c.(718-720)Gac>Tac	p.D240Y	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D240Y|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D247Y	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	240						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCCCCTGACGACGACTTCAA	0.602													11	26					1.08611e-07	1.23288e-07	1	0	T	123474230	G	T	123474230	3	4	400	1	0	0	0	0	1	0	0	0	6798	1058	37	3	748	3	GRAMD1B	11	123474230	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	6097806	123474230	11532286	122	76850											
STK38L	23012	broad.mit.edu	37	chr12	27468247	27468247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaacatgaactcaaagagGaaagcagaaacttggaagaa	21	4	10	6	0	1	5	1	1	0	4	1	7	1	7	0	2	4	1	0	2	7	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:27468247G>A	ENST00000389032.3	+	9	970	c.801G>A	c.(799-801)agG>agA	p.R267R	STK38L_ENST00000539577.1_Silent_p.R174R	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	267	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACTCAAAGAGGAAAGCAGAAA	0.338													11	35					0	0	0	0	A	27468247	G	A	27468247	2	1	400	1	0	0	0	0	0	0	0	1	15394	1165	41	2		2	STK38L	12	27468247	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		27468247	106383648	123	76851											
FMNL3	91010	broad.mit.edu	37	chr12	50040717	50040717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcccctcataaacaggccGgtgttccttggcctggcgcc	5	10	10	16	2	1	0	1	0	0	0	3	0	3	0	6	4	1	1	6	4	2	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:50040717G>A	ENST00000335154.5	-	25	3180	c.2947C>T	c.(2947-2949)Cgg>Tgg	p.R983W	FMNL3_ENST00000293590.5_Missense_Mutation_p.R983W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R982W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R932W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	983					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TAAACAGGCCGGTGTTCCTTG	0.587													16	52					0	0	0	0	A	50040717	G	A	50040717	3	1	400	1	0	0	0	0	1	0	0	0	5998	1115	39	1	144	1	FMNL3	12	50040717	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	22572470	50040717	83811178	124	76852											
NCKAP1L	3071	broad.mit.edu	37	chr12	54914562	54914562	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccattgctttccccctGatttgtgctcactttgtcca	5	17	6	13	0	1	1	1	1	0	0	3	1	3	1	4	0	3	2	4	0	1	5			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:54914562G>T	ENST00000293373.6	+	17	1789	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	NCKAP1L_ENST00000545638.2_Silent_p.L520L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	570					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTTTCCCCCTGATTTGTGCTC	0.473													39	194					9.62906e-15	1.16213e-14	1	0	T	54914562	G	T	54914562	2	4	400	1	0	0	0	0	0	0	0	1	10292	1277	45	2		2	NCKAP1L	12	54914562	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	4873845	54914562	78937333	125	76853											
NAV3	89795	broad.mit.edu	37	chr12	78392148	78392148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctagggtgcctgctgcaGgaagcagcagcaaggtccag	9	6	14	12	0	1	0	0	0	1	0	2	1	2	1	3	3	6	5	3	3	3	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:78392148G>A	ENST00000397909.2	+	7	945	c.772G>A	c.(772-774)Gga>Aga	p.G258R	NAV3_ENST00000536525.2_Missense_Mutation_p.G258R|NAV3_ENST00000228327.6_Missense_Mutation_p.G258R|NAV3_ENST00000266692.7_Missense_Mutation_p.G258R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	258						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCTGCTGCAGGAAGCAGCAG	0.418										HNSCC(70;0.22)			12	35					0	0	0	0	A	78392148	G	A	78392148	3	1	400	1	0	0	0	0	1	0	0	0	10255	1001	35	4	798	4	NAV3	12	78392148	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	23477586	78392148	55459747	126	76854											
ACAD10	80724	broad.mit.edu	37	chr12	112130610	112130610	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcaccaggggtcccacCgatggacacaccttggaggc	9	4	14	14	1	0	0	0	0	0	0	1	3	1	2	4	6	0	2	4	6	0	1	rs148699934	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:112130610C>A	ENST00000455480.2	+	2	274	c.97C>A	c.(97-99)Cga>Aga	p.R33R	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.R33R|ACAD10_ENST00000313698.4_Silent_p.R33R|ACAD10_ENST00000392636.2_5'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	33							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGGGTCCCACCGATGGACACA	0.587													33	112					2.47316e-13	2.96779e-13	1	0	A	112130610	C	A	112130610	2	1	400	1	0	0	0	0	0	0	0	1	108	644	23	3		3	ACAD10	12	112130610	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	33738462	112130610	21721285	127	76855											
POSTN	10631	broad.mit.edu	37	chr13	38164660	38164660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccataaacatggtcaatgGgcaaaactgaaataatcaag	18	8	8	7	0	2	1	2	1	0	0	2	1	2	1	1	2	3	1	1	2	8	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:38164660G>T	ENST00000379747.4	-	4	407	c.290C>A	c.(289-291)cCc>cAc	p.P97H	POSTN_ENST00000379742.4_Missense_Mutation_p.P97H|POSTN_ENST00000379749.4_Missense_Mutation_p.P97H|POSTN_ENST00000541481.1_Missense_Mutation_p.P97H|POSTN_ENST00000379743.4_Missense_Mutation_p.P97H|POSTN_ENST00000541179.1_Missense_Mutation_p.P97H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	97	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGGTCAATGGGCAAAACTGA	0.428													8	19					3.86212e-05	4.20231e-05	1	0	T	38164660	G	T	38164660	3	4	400	1	0	0	0	0	1	0	0	0	12331	1232	43	4	2300	4	POSTN	13	38164660	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		38164660	77005218	128	76856											
KLHL1	57626	broad.mit.edu	37	chr13	70275855	70275855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggttgcttgatgactacCacacaggcacctgctctccc	9	9	8	15	0	1	2	0	2	1	0	2	2	1	2	3	2	3	4	3	2	2	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:70275855C>T	ENST00000377844.4	-	11	2985	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V	KLHL1_ENST00000545028.1_Silent_p.V549V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	742					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGATGACTACCACACAGGCAC	0.328													4	13					0	0	0	0	T	70275855	C	T	70275855	2	4	400	1	0	0	0	0	0	0	0	1	8417	581	21	4		4	KLHL1	13	70275855	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	32111195	70275855	44894023	129	76857											
CUL4A	8451	broad.mit.edu	37	chr13	113888215	113888215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcttgtttcttaggtgtAtaaagattcatttgaactga	10	18	8	5	0	3	3	1	2	2	1	3	3	3	3	0	1	2	3	0	1	5	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:113888215A>G	ENST00000451881.1	+	7	629	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	CUL4A_ENST00000375440.4_Missense_Mutation_p.Y227C|CUL4A_ENST00000326335.4_Missense_Mutation_p.Y127C|CUL4A_ENST00000375441.3_Missense_Mutation_p.Y127C	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	227					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TCTTAGGTGTATAAAGATTCA	0.413													11	33					0	0	0	0	G	113888215	A	G	113888215	3	3	400	1	0	0	0	0	1	0	0	0	4089	449	16	5	706	5	CUL4A	13	113888215	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	43612360	113888215	1281663	130	76858											
DDHD1	80821	broad.mit.edu	37	chr14	53540558	53540558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctatttttcttgcagcttCtctcatcctaaaaaaacaaa	13	16	2	10	0	4	0	1	0	3	0	6	0	5	0	1	0	3	2	1	0	6	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:53540558C>G	ENST00000357758.3	-	5	1480	c.1297G>C	c.(1297-1299)Gaa>Caa	p.E433Q	DDHD1_ENST00000395606.1_Missense_Mutation_p.E440Q|DDHD1_ENST00000323669.5_Missense_Mutation_p.E433Q	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	433					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTGCAGCTTCTCTCATCCTA	0.323													13	35					0	0	0	0	G	53540558	C	G	53540558	3	3	400	1	0	0	0	0	1	0	0	0	4358	922	32	2	1441	2	DDHD1	14	53540558	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		53540558	53808982	131	76859											
EXOC5	10640	broad.mit.edu	37	chr14	57675357	57675357	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgagcaaggcgggcagaTctataatcagcacgaagttg	12	8	13	8	3	2	1	1	0	1	1	3	3	2	1	0	2	2	4	0	2	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:57675357T>C	ENST00000413566.2	-	18	2456	c.2097A>G	c.(2095-2097)agA>agG	p.R699R	EXOC5_ENST00000340918.7_Silent_p.R634R	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	699					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GGCGGGCAGATCTATAATCAG	0.428													42	169					0	0	0	0	C	57675357	T	C	57675357	2	2	400	1	0	0	0	0	0	0	0	1	5344	1432	50	5		5	EXOC5	14	57675357	Silent	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	4134799	57675357	49674183	132	76860											
SPTB	6710	broad.mit.edu	37	chr14	65264532	65264532	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgggactggatggtaaaaAgtagaacttccagattcccc	12	9	10	10	1	0	2	0	0	0	2	3	4	3	4	4	3	1	2	4	3	5	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:65264532A>C	ENST00000389722.3	-	9	1150	c.1097T>G	c.(1096-1098)cTt>cGt	p.L366R	SPTB_ENST00000556626.1_Missense_Mutation_p.L366R|SPTB_ENST00000389720.3_Missense_Mutation_p.L366R|SPTB_ENST00000542895.1_Missense_Mutation_p.L366R|SPTB_ENST00000389721.5_Missense_Mutation_p.L366R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	366					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GATGGTAAAAAGTAGAACTTC	0.423													8	94					0	0	0	0	C	65264532	A	C	65264532	3	2	400	1	0	0	0	0	1	0	0	0	15208	72	3	5	6066	5	SPTB	14	65264532	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	7589175	65264532	42085008	133	76861											
TSHR	7253	broad.mit.edu	37	chr14	81610369	81610369	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaagcctctcatcactgTtagcaactccaaaatcttgc	13	10	5	13	0	3	0	2	0	2	0	5	1	4	0	2	0	5	2	2	0	6	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:81610369T>C	ENST00000541158.2	+	11	2289	c.1967T>C	c.(1966-1968)gTt>gCt	p.V656A	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.V656A			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	656			V -> F (in TTNs).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTCATCACTGTTAGCAACTCC	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						50	134					0	0	0	0	C	81610369	T	C	81610369	3	2	400	1	0	0	0	0	1	0	0	0	16717	1725	60	5	2142	5	TSHR	14	81610369	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	16345837	81610369	25739171	134	76862											
TDP1	55775	broad.mit.edu	37	chr14	90450869	90450869	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaattccagaatatggttGagccccttatacccacgaat	12	13	6	10	1	0	2	0	1	0	1	1	3	1	2	4	1	2	1	4	1	6	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:90450869G>A	ENST00000335725.4	+	9	1144	c.894G>A	c.(892-894)ttG>ttA	p.L298L	TDP1_ENST00000555880.1_Silent_p.L298L|TDP1_ENST00000393452.3_Silent_p.L298L|TDP1_ENST00000393454.2_Silent_p.L298L|TDP1_ENST00000357382.3_Silent_p.L59L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	298					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GAATATGGTTGAGCCCCTTAT	0.388								Repair of DNA-protein crosslinks					16	139					0	0	0	0	A	90450869	G	A	90450869	2	1	400	1	0	0	0	0	0	0	0	1	15822	1281	45	2		2	TDP1	14	90450869	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	8840500	90450869	16898671	135	76863											
DDX24	57062	broad.mit.edu	37	chr14	94528707	94528707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagagcaacgcctggtCtgagacagtgcctccagtct	11	7	10	13	1	2	2	0	1	2	2	3	3	3	2	4	1	3	1	4	1	2	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:94528707C>A	ENST00000330836.5	-	3	1110	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	DDX24_ENST00000544005.1_Missense_Mutation_p.D77Y|DDX24_ENST00000555054.1_Missense_Mutation_p.D284Y	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	327	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AACGCCTGGTCTGAGACAGTG	0.512													46	124					2.0833e-19	2.58872e-19	1	0	A	94528707	C	A	94528707	3	1	400	1	0	0	0	0	1	0	0	0	4383	913	32	2	1628	2	DDX24	14	94528707	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	4077838	94528707	12820833	136	76864											
ALDH1A2	8854	broad.mit.edu	37	chr15	58254324	58254324	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttggcgccctcagcCacaccactctggatgagttc	7	9	9	16	1	2	1	1	1	1	0	4	2	3	2	4	2	2	2	4	2	0	2	rs141958697		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:58254324C>G	ENST00000249750.4	-	10	1904	c.1137G>C	c.(1135-1137)gtG>gtC	p.V379V	ALDH1A2_ENST00000537372.1_Silent_p.V358V|ALDH1A2_ENST00000559517.1_Silent_p.V283V|ALDH1A2_ENST00000558231.1_Silent_p.V350V|ALDH1A2_ENST00000347587.3_Silent_p.V341V	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	379					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CGCCCTCAGCCACACCACTCT	0.458													19	49					0	0	0	0	G	58254324	C	G	58254324	2	3	400	1	0	0	0	0	0	0	0	1	491	581	21	4		4	ALDH1A2	15	58254324	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		58254324	44277068	137	76865											
GRAMD2	196996	broad.mit.edu	37	chr15	72455669	72455669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccccagtgctcctgggCtcctcctccagctcatcctc	4	10	7	20	0	1	0	1	0	0	0	8	0	7	0	7	1	3	4	7	1	0	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:72455669C>A	ENST00000309731.7	-	10	907	c.894G>T	c.(892-894)gaG>gaT	p.E298D	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	298						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TGCTCCTGGGCTCCTCCTCCA	0.592													6	71					2.0095e-06	2.24465e-06	1	0	A	72455669	C	A	72455669	3	1	400	1	0	0	0	0	1	0	0	0	6800	796	28	4	182	4	GRAMD2	15	72455669	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	14201345	72455669	30075723	138	76866											
LOXL1	4016	broad.mit.edu	37	chr15	74240200	74240200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcggacatcgactgccagtGgatcgacataaccgacgtgc	10	7	12	12	5	0	0	0	0	0	0	2	5	0	2	2	2	4	0	2	2	1	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:74240200G>T	ENST00000261921.7	+	5	1885	c.1559G>T	c.(1558-1560)tGg>tTg	p.W520L	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	520	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GACTGCCAGTGGATCGACATA	0.577													22	108					5.45024e-15	6.65436e-15	1	0	T	74240200	G	T	74240200	3	4	400	1	0	0	0	0	1	0	0	0	8963	1357	47	4	1577	4	LOXL1	15	74240200	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	1784531	74240200	28291192	139	76867											
IREB2	3658	broad.mit.edu	37	chr15	78782855	78782855	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatatcagatgcccttcatTttttgataaacttgtaagta	12	18	5	6	0	2	2	2	1	0	1	2	2	2	2	1	0	2	2	1	0	6	10			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:78782855T>G	ENST00000258886.8	+	17	2317	c.2168T>G	c.(2167-2169)tTt>tGt	p.F723C		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	723							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGCCCTTCATTTTTTGATAAA	0.323													13	34					0	0	0	0	G	78782855	T	G	78782855	3	3	400	1	0	0	0	0	1	0	0	0	7879	1841	64	5	2234	5	IREB2	15	78782855	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	4542655	78782855	23748537	140	76868											
PCSK6	5046	broad.mit.edu	37	chr15	101922383	101922383	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaacgagagcttctgcGtccaccaaaccaaatccata	14	7	5	15	2	1	1	0	0	1	1	4	2	4	1	5	0	4	1	5	0	4	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:101922383G>A	ENST00000348070.1	-	12	1442	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCSK6_ENST00000358417.3_Silent_p.D481D|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.D316D|PCSK6_ENST00000344273.2_Silent_p.D481D|PCSK6_ENST00000398181.2_Silent_p.D481D	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	482					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGCTTCTGCGTCCACCAAAC	0.567													5	18					0	0	0	0	A	101922383	G	A	101922383	2	1	400	1	0	0	0	0	0	0	0	1	11675	1136	40	1		1	PCSK6	15	101922383	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	23139528	101922383	609009	141	76869											
TBL3	10607	broad.mit.edu	37	chr16	2025058	2025058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcccactacagcgccgtCacctcactggccttcagcgc	7	7	8	19	3	3	0	3	0	0	0	3	0	3	0	4	1	4	0	4	1	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:2025058C>T	ENST00000568546.1	+	7	722	c.594C>T	c.(592-594)gtC>gtT	p.V198V		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	198					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						ACAGCGCCGTCACCTCACTGG	0.662													6	61					0	0	0	0	T	2025058	C	T	2025058	2	4	400	1	0	0	0	0	0	0	0	1	15737	813	29	2		2	TBL3	16	2025058	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		2025058	88329695	142	76870											
NPW	283869	broad.mit.edu	37	chr16	2070260	2070260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgccccggagcccgcgcGccccagagcctgcgctggaa	5	3	15	18	6	0	1	0	0	0	1	0	3	0	3	6	2	4	1	6	2	1	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:2070260G>T	ENST00000329610.4	+	1	740	c.358G>T	c.(358-360)Gcc>Tcc	p.A120S	NPW_ENST00000566435.1_Missense_Mutation_p.A68S	NM_001099456.2	NP_001092926.2	Q8N729	NPW_HUMAN	neuropeptide W	120					feeding behavior|neuropeptide signaling pathway	extracellular region				kidney(1)	1						GAGCCCGCGCGCCCCAGAGCC	0.726													3	3					0.115264	0.116372	1	0	T	2070260	G	T	2070260	3	4	400	1	0	0	0	0	1	0	0	0	10677	1087	38	3	360	3	NPW	16	2070260	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	45202	2070260	88284493	143	76871											
ZNF174	7727	broad.mit.edu	37	chr16	3452344	3452344	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcgatgtccaatgagcAgcaaggagattgtgaccctc	11	8	12	10	1	0	3	0	2	0	1	3	5	1	3	2	2	2	3	2	2	2	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:3452344A>T	ENST00000268655.4	+	1	925	c.340A>T	c.(340-342)Agc>Tgc	p.S114C	ZNF174_ENST00000344823.5_Missense_Mutation_p.S114C|ZNF174_ENST00000572544.1_Missense_Mutation_p.S114C|ZNF174_ENST00000571936.1_Missense_Mutation_p.S114C|ZNF174_ENST00000575752.1_Missense_Mutation_p.S114C|LA16c-306E5.2_ENST00000575785.1_RNA	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	114	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TCCAATGAGCAGCAAGGAGAT	0.537													20	73					0	0	0	0	T	3452344	A	T	3452344	3	4	400	1	0	0	0	0	1	0	0	0	17839	188	7	5	342	5	ZNF174	16	3452344	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	1382084	3452344	86902409	144	76872											
CNOT1	23019	broad.mit.edu	37	chr16	58615370	58615370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tactgtcacgaatttgaaatCcaggatggtccagttcataa	13	12	8	8	1	2	1	2	1	0	0	4	3	4	2	2	2	1	1	2	2	4	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:58615370C>T	ENST00000317147.5	-	11	1426	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	CNOT1_ENST00000569240.1_Missense_Mutation_p.G365E|CNOT1_ENST00000441024.2_Missense_Mutation_p.G365E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	365					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AATTTGAAATCCAGGATGGTC	0.358													9	36					0	0	0	0	T	58615370	C	T	58615370	3	4	400	1	0	0	0	0	1	0	0	0	3647	855	30	2	6414	2	CNOT1	16	58615370	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	55163026	58615370	31739383	145	76873											
HSD17B2	3294	broad.mit.edu	37	chr16	82131955	82131955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgcctattggcatatatGattactttgctaaaagacat	13	16	6	6	0	0	2	0	1	0	1	0	2	0	2	1	1	3	2	1	1	6	8			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:82131955G>A	ENST00000199936.4	+	5	1271	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	360					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGGCATATATGATTACTTTGC	0.468													36	90					0	0	0	0	A	82131955	G	A	82131955	3	1	400	1	0	0	0	0	1	0	0	0	7434	1290	45	2	1096	2	HSD17B2	16	82131955	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	23516585	82131955	8222798	146	76874											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:7577114C>T	ENST00000420246.2	-	8	956	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000269305.4_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552		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)			15	20					0	0	0	0	T	7577114	C	T	7577114	3	4	400	1	0	0	0	0	1	0	0	0	16476	478	17	4	462	4	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		7577114	73618096	147	76875											
MYH13	8735	broad.mit.edu	37	chr17	10219337	10219337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccggcacgttctttctatGttactctttaacaaacagaa	11	14	6	10	2	3	1	0	0	3	1	4	1	4	1	1	1	3	3	1	1	5	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:10219337G>A	ENST00000418404.3	-	27	3907	c.3744C>T	c.(3742-3744)aaC>aaT	p.N1248N	MYH13_ENST00000252172.4_Silent_p.N1248N|MYH13_ENST00000570743.1_Silent_p.N1248N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1248					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCTTTCTATGTTACTCTTTA	0.408													20	27					0	0	0	0	A	10219337	G	A	10219337	2	1	400	1	0	0	0	0	0	0	0	1	10102	1368	48	4		4	MYH13	17	10219337	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	2642223	10219337	70975873	148	76876											
MYH2	4620	broad.mit.edu	37	chr17	10438615	10438615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggagtttttgtctcattgGggatgatacacctcacaaag	11	12	10	8	0	2	1	2	1	1	0	3	3	2	3	1	3	1	1	1	3	2	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:10438615G>C	ENST00000245503.5	-	18	2426	c.2042C>G	c.(2041-2043)cCc>cGc	p.P681R	MYH2_ENST00000397183.2_Missense_Mutation_p.P681R|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	681	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTCTCATTGGGGATGATACA	0.413													9	31					0	0	0	0	C	10438615	G	C	10438615	3	2	400	1	0	0	0	0	1	0	0	0	10105	1232	43	4	3875	4	MYH2	17	10438615	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	219278	10438615	70756595	149	76877											
MAPK7	5598	broad.mit.edu	37	chr17	19285691	19285691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttcccacctggcctgcCgcccccagacgccgggggag	5	6	12	18	3	0	1	0	0	0	1	1	2	1	2	7	3	2	0	7	3	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:19285691C>T	ENST00000308406.5	+	5	2461	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L	MAPK7_ENST00000299612.7_Missense_Mutation_p.P553L|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.P692L|MAPK7_ENST00000395604.3_Missense_Mutation_p.P692L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	692	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|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	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGGCCTGCCGCCCCCAGAC	0.632													5	107					0	0	0	0	T	19285691	C	T	19285691	3	4	400	1	0	0	0	0	1	0	0	0	9351	652	23	1	2089	1	MAPK7	17	19285691	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	8847076	19285691	61909519	150	76878											
GPR179	440435	broad.mit.edu	37	chr17	36483394	36483394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctttcagtcacttcccaggGacaggtctcagccttggcac	7	11	9	14	0	4	0	3	0	2	0	6	1	5	1	2	3	1	1	2	3	0	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:36483394G>A	ENST00000342292.4	-	11	6078	c.6058C>T	c.(6058-6060)Ccc>Tcc	p.P2020S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2020						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACTTCCCAGGGACAGGTCTCA	0.542													9	91					0	0	0	0	A	36483394	G	A	36483394	3	1	400	1	0	0	0	0	1	0	0	0	6723	1174	41	2	1049	2	GPR179	17	36483394	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	17197703	36483394	44711816	151	76879											
JUP	3728	broad.mit.edu	37	chr17	39914005	39914005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaccccggcagccacgCgctggatgttctccaccgac	8	5	10	18	4	1	0	0	0	1	0	2	2	1	1	5	2	2	4	5	2	0	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:39914005C>A	ENST00000393931.3	-	11	1923	c.1805G>T	c.(1804-1806)cGc>cTc	p.R602L	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R602L|JUP_ENST00000310706.5_Missense_Mutation_p.R602L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	602					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCAGCCACGCGCTGGATGTT	0.672													8	24					0.000274275	0.000290898	1	0	A	39914005	C	A	39914005	3	1	400	1	0	0	0	0	1	0	0	0	8025	768	27	3	448	3	JUP	17	39914005	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	3430611	39914005	41281205	152	76880											
COL1A1	1277	broad.mit.edu	37	chr17	48275342	48275342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcgccaggctcaccaggggGaccttggaagccttggggac	7	6	15	13	1	1	0	1	0	0	0	2	3	1	3	4	6	1	1	4	6	1	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:48275342G>A	ENST00000225964.5	-	8	728	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	204	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGGGGGACCTTGGAAG	0.488			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	47					0	0	0	0	A	48275342	G	A	48275342	3	1	400	1	0	0	0	0	1	0	0	0	3707	1174	41	2	3960	2	COL1A1	17	48275342	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	8361337	48275342	32919868	153	76881											
RNF43	54894	broad.mit.edu	37	chr17	56492716	56492716	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttccttctgctggagttaTttcagcaacaccagcaaaca	11	13	6	11	0	2	0	1	0	1	0	3	1	3	1	2	1	5	4	2	1	3	5			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:56492716T>C	ENST00000584437.1	-	1	2178	c.223A>G	c.(223-225)Ata>Gta	p.I75V	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000583753.1_Missense_Mutation_p.I75V|RNF43_ENST00000500597.2_Missense_Mutation_p.I75V|RNF43_ENST00000577716.1_Missense_Mutation_p.I75V|RNF43_ENST00000407977.2_Missense_Mutation_p.I75V			Q68DV7	RNF43_HUMAN	ring finger protein 43	75						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGGAGTTATTTCAGCAACA	0.373													6	52					0	0	0	0	C	56492716	T	C	56492716	3	2	400	1	0	0	0	0	1	0	0	0	13580	1493	52	5	2164	5	RNF43	17	56492716	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	8217374	56492716	24702494	154	76882											
GH1	2688	broad.mit.edu	37	chr17	61994708	61994708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccacagagcggcactgcacGatgcgcaggaatgtctcgac	10	6	12	13	4	1	1	0	0	1	1	3	4	2	2	1	2	3	3	1	2	1	0	rs148474991		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:61994708G>C	ENST00000323322.5	-	5	657	c.615C>G	c.(613-615)atC>atG	p.I205M	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.I190M|GH1_ENST00000351388.4_Missense_Mutation_p.I165M|GH1_ENST00000342364.4_Missense_Mutation_p.I110M	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	205			I -> M (in short stature; idiopathic autosomal).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.I205M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCACTGCACGATGCGCAGGA	0.592													26	71					0	0	0	0	C	61994708	G	C	61994708	3	2	400	1	0	0	0	0	1	0	0	0	6418	1048	37	3	42	3	GH1	17	61994708	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	5501992	61994708	19200502	155	76883											
GH1	2688	broad.mit.edu	37	chr17	61994788	61994788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttcttgagtagtgcgtcatCgttgtgtgagtttgtgtcga	5	17	14	5	3	2	2	1	2	1	0	4	3	2	2	0	0	1	4	0	0	1	5	rs151243538		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:61994788C>G	ENST00000323322.5	-	5	577	c.535G>C	c.(535-537)Gat>Cat	p.D179H	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.D164H|GH1_ENST00000351388.4_Missense_Mutation_p.D139H|GH1_ENST00000342364.4_Missense_Mutation_p.D84H	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	179					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGTGCGTCATCGTTGTGTGAG	0.542													27	104					0	0	0	0	G	61994788	C	G	61994788	3	3	400	1	0	0	0	0	1	0	0	0	6418	884	31	3	122	3	GH1	17	61994788	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	80	61994788	19200422	156	76884											
TIMM13	26517	broad.mit.edu	37	chr19	2427444	2427444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgttggccacggcgaTctgcactttcacctgctcca	5	10	10	16	4	2	0	1	0	1	0	3	1	3	0	3	2	3	3	3	2	0	2			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:2427444T>C	ENST00000215570.3	-	1	448	c.88A>G	c.(88-90)Atc>Gtc	p.I30V	TIMM13_ENST00000591871.1_Intron	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)	30					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding			endometrium(1)|prostate(1)	2		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)		GCCACGGCGATCTGCACTTTC	0.711													9	33					0	0	0	0	C	2427444	T	C	2427444	3	2	400	1	0	0	0	0	1	0	0	0	16000	1435	50	5	211	5	TIMM13	19	2427444	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08		2427444	56701539	157	76885											
FUT5	2527	broad.mit.edu	37	chr19	5867208	5867208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgtagggcgtgaagatgtCggagtcgctgcggtaggaca	8	7	18	8	5	0	2	0	1	0	1	2	4	0	4	1	4	1	3	1	4	3	2	rs140525878	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:5867208C>T	ENST00000252675.5	-	5	1091	c.529G>A	c.(529-531)Gac>Aac	p.D177N	FUT5_ENST00000588525.1_Missense_Mutation_p.D177N			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	177					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTGAAGATGTCGGAGTCGCTG	0.657													16	55					0	0	0	0	T	5867208	C	T	5867208	3	4	400	1	0	0	0	0	1	0	0	0	6155	884	31	1	599	1	FUT5	19	5867208	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	3439764	5867208	53261775	158	76886											
MUC16	94025	broad.mit.edu	37	chr19	9057047	9057047	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggaagagggagtaccCactgggtatgtagccttgga	10	8	15	8	0	0	1	0	0	0	1	0	4	0	4	3	4	2	3	3	4	4	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:9057047C>A	ENST00000397910.4	-	3	30602	c.30399G>T	c.(30397-30399)gtG>gtT	p.V10133V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10135	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGAGTACCCACTGGGTATG	0.468													11	25					0.000673444	0.000703598	1	0	A	9057047	C	A	9057047	2	1	400	1	0	0	0	0	0	0	0	1	10043	581	21	4		4	MUC16	19	9057047	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	3189839	9057047	50071936	159	76887											
RYR1	6261	broad.mit.edu	37	chr19	38943512	38943512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggggccacccgctggcaCggcgctgcccatcgagggcg	4	4	16	17	6	0	0	0	0	0	0	2	1	0	0	3	5	1	3	3	5	0	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:38943512C>T	ENST00000355481.4	+	13	1429	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	RYR1_ENST00000359596.3_Missense_Mutation_p.T433M|RYR1_ENST00000360985.3_Missense_Mutation_p.T433M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	433					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGCTGGCACGGCGCTGCCC	0.657													11	16					0	0	0	0	T	38943512	C	T	38943512	3	4	400	1	0	0	0	0	1	0	0	0	13853	536	19	1	1348	1	RYR1	19	38943512	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	29886465	38943512	20185471	160	76888											
FCGBP	8857	broad.mit.edu	37	chr19	40433526	40433526	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactacatagtgggtgcccCaggcagacgtgggtagcagc	9	7	15	10	1	0	1	0	0	0	1	0	1	0	1	2	3	5	4	2	3	4	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:40433526C>T	ENST00000221347.6	-	2	750	c.743G>A	c.(742-744)tGg>tAg	p.W248*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	248	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGGGTGCCCCAGGCAGACGT	0.587													28	59					0	0	0	0	T	40433526	C	T	40433526	4	4	400	1	0	0	0	0	0	1	0	0	5823	595	21	4	15614	4	FCGBP	19	40433526	Nonsense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	1490014	40433526	18695457	161	76889											
SPHK2	56848	broad.mit.edu	37	chr19	49132281	49132281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgaccctaaccccaGacccagccccgcccatggcc	8	3	9	21	2	0	2	0	1	0	1	0	3	0	3	8	2	3	1	8	2	1	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:49132281G>T	ENST00000443164.1	+	5	2107	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	SPHK2_ENST00000599029.1_Missense_Mutation_p.D370Y|SPHK2_ENST00000600537.1_Missense_Mutation_p.D347Y|SPHK2_ENST00000598088.1_Missense_Mutation_p.D406Y|SPHK2_ENST00000340932.3_Missense_Mutation_p.D368Y|SPHK2_ENST00000599748.1_Missense_Mutation_p.D370Y|SPHK2_ENST00000245222.4_Missense_Mutation_p.D406Y			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	406					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTAACCCCAGAcccagcccc	0.692													7	56					0.27861	0.27861	1	0	T	49132281	G	T	49132281	3	4	400	1	0	0	0	0	1	0	0	0	15137	942	33	2	1238	2	SPHK2	19	49132281	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	8698755	49132281	9996702	162	76890											
ZNF470	388566	broad.mit.edu	37	chr19	57088800	57088800	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacatcagagggtccacActggagagaaaccctatgaa	15	6	9	11	0	2	3	2	1	0	2	3	5	3	4	2	2	2	0	2	2	4	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:57088800A>C	ENST00000330619.8	+	6	1689	c.1003A>C	c.(1003-1005)Act>Cct	p.T335P	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.T335P	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAGGGTCCACACTGGAGAGAA	0.443													20	62					0	0	0	0	C	57088800	A	C	57088800	3	2	400	1	0	0	0	0	1	0	0	0	18024	159	6	5	1017	5	ZNF470	19	57088800	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	7956519	57088800	2040183	163	76891											
RASSF2	9770	broad.mit.edu	37	chr20	4766896	4766896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgcatcagcttctttaCttcccgatcttcttcctcct	4	17	4	16	2	4	0	1	0	3	0	7	1	7	0	3	0	3	2	3	0	1	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:4766896C>T	ENST00000379400.3	-	11	1087	c.892G>A	c.(892-894)Gta>Ata	p.V298I	RASSF2_ENST00000379376.2_Missense_Mutation_p.V298I|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	298	SARAH.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGCTTCTTTACTTCCCGATCT	0.527													57	143					0	0	0	0	T	4766896	C	T	4766896	3	4	400	1	0	0	0	0	1	0	0	0	13168	565	20	4	96	4	RASSF2	20	4766896	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08		4766896	58258624	164	76892											
FOXA2	3170	broad.mit.edu	37	chr20	22563595	22563595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggccgagccgcccatGcccgccatggcgcccgcgcc	3	2	13	23	7	0	0	0	0	0	0	0	1	0	0	9	2	2	0	9	2	0	0			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:22563595G>A	ENST00000419308.2	-	2	469	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FOXA2_ENST00000377115.4_Silent_p.G89G|FOXA2_ENST00000319993.4_Silent_p.G95G	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	89	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					AGCCGCCCATGCCCGCCATGG	0.771													4	16					0	0	0	0	A	22563595	G	A	22563595	2	1	400	1	0	0	0	0	0	0	0	1	6035	1306	46	4		4	FOXA2	20	22563595	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	17796699	22563595	40461925	165	76893											
CTSA	5476	broad.mit.edu	37	chr20	44520385	44520385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaaaggctccggctccAagcacctccactactggtct	9	8	7	17	1	2	0	1	0	1	0	5	0	5	0	5	3	2	3	5	3	3	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:44520385A>G	ENST00000372484.3	+	2	514	c.232A>G	c.(232-234)Aag>Gag	p.K78E	CTSA_ENST00000372459.2_Missense_Mutation_p.K60E|CTSA_ENST00000354880.5_Missense_Mutation_p.K78E|CTSA_ENST00000191018.5_Missense_Mutation_p.K60E	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	60					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTCCGGCTCCAAGCACCTCCA	0.652													19	186					0	0	0	0	G	44520385	A	G	44520385	3	3	400	1	0	0	0	0	1	0	0	0	4061	131	5	5	238	5	CTSA	20	44520385	Missense_Mutation	SNP	A	TCGA-F7-A50I-01A-11D-A28R-08	21956790	44520385	18505135	166	76894											
CRYZL1	9946	broad.mit.edu	37	chr21	34968063	34968063	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttccctgttgtacatttGacaaattccaaacttcatca	12	16	3	10	0	2	1	2	1	0	0	4	1	4	1	2	0	2	2	2	0	3	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr21:34968063G>C	ENST00000361534.2	-	12	1089	c.950C>G	c.(949-951)tCa>tGa	p.S317*	CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.S278*|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.S293*|CRYZL1_ENST00000381554.3_Nonsense_Mutation_p.S293*			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	293					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TTGTACATTTGACAAATTCCA	0.363													4	38					0	0	0	0	C	34968063	G	C	34968063	4	2	400	1	0	0	0	0	0	1	0	0	3953	1294	45	2	183	2	CRYZL1	21	34968063	Nonsense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		34968063	13161832	167	76895											
ICOSLG	23308	broad.mit.edu	37	chr21	45656849	45656849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgtcctggggggtgaCgttgaacaagcgcagggaga	8	7	17	9	3	0	3	0	2	0	1	2	4	1	3	1	4	3	3	1	4	2	1			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr21:45656849C>T	ENST00000407780.3	-	3	434	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000344330.4_Missense_Mutation_p.V103I|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V103I			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	103	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGGGGGGTGACGTTGAACAAG	0.597													43	92					0	0	0	0	T	45656849	C	T	45656849	3	4	400	1	0	0	0	0	1	0	0	0	7540	536	19	1	621	1	ICOSLG	21	45656849	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	10688786	45656849	2473046	168	76896											
CHEK2	11200	broad.mit.edu	37	chr22	29107975	29107975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttacatgttttcctctcGaaagccagctttacctctcc	7	16	4	14	1	3	0	0	0	3	0	6	1	4	0	4	0	4	2	4	0	3	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:29107975G>A	ENST00000544772.1	-	7	1487	c.51C>T	c.(49-51)ttC>ttT	p.F17F	CHEK2_ENST00000328354.6_Silent_p.F238F|CHEK2_ENST00000402731.1_Silent_p.F238F|CHEK2_ENST00000382580.2_Silent_p.F281F|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382578.1_Silent_p.F147F|CHEK2_ENST00000382566.1_Silent_p.F238F|CHEK2_ENST00000405598.1_Silent_p.F238F|CHEK2_ENST00000403642.1_Silent_p.F147F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.F238F|CHEK2_ENST00000404276.1_Silent_p.F238F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	238			A -> S (in an osteogenic sarcoma sample; somatic mutation; might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer).		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTTTCCTCTCGAAAGCCAGCT	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	49					0	0	0	0	A	29107975	G	A	29107975	2	1	400	1	0	0	0	0	0	0	0	1	3364	1049	37	1		1	CHEK2	22	29107975	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		29107975	22196591	169	76897											
APOBEC3G	60489	broad.mit.edu	37	chr22	39482340	39482340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagctgtgcttcctggaCgtgattcccttttggaagct	6	13	12	10	1	0	2	0	1	0	1	2	4	2	4	2	2	3	4	2	2	1	4			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:39482340C>T	ENST00000407997.3	+	6	1149	c.792C>T	c.(790-792)gaC>gaT	p.D264D	APOBEC3G_ENST00000452957.2_Silent_p.D264D	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCTTCCTGGACGTGATTCCCT	0.498													8	86					0	0	0	0	T	39482340	C	T	39482340	2	4	400	1	0	0	0	0	0	0	0	1	796	535	19	1		1	APOBEC3G	22	39482340	Silent	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	10374365	39482340	11822226	170	76898											
EFCAB6	64800	broad.mit.edu	37	chr22	44063001	44063001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttcttaaagtcatgcaCgttaatttttccattaggct	10	17	5	9	1	2	0	1	0	1	0	3	0	3	0	2	1	2	3	2	1	5	7			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:44063001C>T	ENST00000262726.7	-	17	2219	c.1966G>A	c.(1966-1968)Gtg>Atg	p.V656M	EFCAB6_ENST00000396231.2_Missense_Mutation_p.V504M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	656	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGTCATGCACGTTAATTTTT	0.373													14	65					0	0	0	0	T	44063001	C	T	44063001	3	4	400	1	0	0	0	0	1	0	0	0	4975	536	19	1	2603	1	EFCAB6	22	44063001	Missense_Mutation	SNP	C	TCGA-F7-A50I-01A-11D-A28R-08	4580661	44063001	7241565	171	76899											
DMD	1756	broad.mit.edu	37	chrX	31697647	31697647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatttcattcaactgttGcctccggttctgaaggtgtt	8	16	8	9	1	3	1	2	1	1	0	4	1	4	1	2	2	3	3	2	2	3	6			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:31697647G>T	ENST00000357033.4	-	53	7923	c.7717C>A	c.(7717-7719)Caa>Aaa	p.Q2573K	DMD_ENST00000378707.3_Missense_Mutation_p.Q113K|DMD_ENST00000541735.1_Missense_Mutation_p.Q113K|DMD_ENST00000378677.2_Missense_Mutation_p.Q2569K|DMD_ENST00000343523.2_Missense_Mutation_p.Q113K|DMD_ENST00000359836.1_Missense_Mutation_p.Q113K|DMD_ENST00000474231.1_Missense_Mutation_p.Q113K	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	2573					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			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)				TTCAACTGTTGCCTCCGGTTC	0.398													4	11					0.000602214	0.000632325	1	0	T	31697647	G	T	31697647	3	4	400	1	0	0	0	0	1	0	0	0	4617	1328	46	4	3596	4	DMD	23	31697647	Missense_Mutation	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08		31697647	123572913	172	76900											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424196	69424196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctttggtgagaacgaagTtttcaatcaggagaccttcc	10	13	9	9	1	2	2	2	1	0	2	4	5	4	2	3	2	1	1	3	2	3	5			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:69424196T>C	ENST00000333026.3	+	6	789	c.689T>C	c.(688-690)gTt>gCt	p.V230A		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	230					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GAGAACGAAGTTTTCAATCAG	0.468													6	11					0	0	0	0	C	69424196	T	C	69424196	3	2	400	1	0	0	0	0	1	0	0	0	4496	1725	60	5	711	5	DGAT2L6	23	69424196	Missense_Mutation	SNP	T	TCGA-F7-A50I-01A-11D-A28R-08	37726549	69424196	85846364	173	76901											
DDX26B	203522	broad.mit.edu	37	chrX	134711240	134711240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtatgtccctgctgttgagGaaaccacaaacaccacctac	13	8	7	13	0	0	1	0	1	0	0	1	2	1	2	4	1	4	3	4	1	4	3			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:134711240G>A	ENST00000370752.4	+	14	2230	c.1896G>A	c.(1894-1896)agG>agA	p.R632R	DDX26B_ENST00000493637.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	632										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTTGAGGAAACCACAAA	0.502													4	136					0	0	0	0	A	134711240	G	A	134711240	2	1	400	1	0	0	0	0	0	0	0	1	4385	1165	41	2		2	DDX26B	23	134711240	Silent	SNP	G	TCGA-F7-A50I-01A-11D-A28R-08	65287044	134711240	20559320	174	76902											
PEX14	5195	broad.mit.edu	37	chr1	10535035	10535035	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaagatggcgtcctcGgagcaggcagagcagccgag	11	4	15	11	3	1	3	1	0	0	3	3	5	2	4	2	3	3	3	2	3	1	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:10535035G>C	ENST00000356607.4	+	1	92	c.12G>C	c.(10-12)tcG>tcC	p.S4S	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	4					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGTCCTCGGAGCAGGCAG	0.692													6	15					0	0	0	0	C	10535035	G	C	10535035	2	2	401	1	0	0	0	0	0	0	0	1	11814	1103	39	3		3	PEX14	1	10535035	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08		10535035	238715586	1	76903											
GRIK3	2899	broad.mit.edu	37	chr1	37282705	37282705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atccttgacagccccatactCgattttggtttgcttggcca	7	14	8	12	1	0	1	0	1	0	0	2	2	1	1	4	2	3	2	4	2	1	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:37282705C>G	ENST00000373091.3	-	13	2063	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	GRIK3_ENST00000373093.4_Missense_Mutation_p.E683Q	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	683					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCCCCATACTCGATTTTGGTT	0.562													5	40					0	0	0	0	G	37282705	C	G	37282705	3	3	401	1	0	0	0	0	1	0	0	0	6825	893	31	3	728	3	GRIK3	1	37282705	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	26747670	37282705	211967916	2	76904											
CYP2J2	1573	broad.mit.edu	37	chr1	60392364	60392364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtgcccagtaggagagtccGaggatggaccactgcccaga	11	5	14	11	1	0	2	0	0	0	2	1	6	1	4	4	3	2	1	4	3	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:60392364G>C	ENST00000371204.3	-	1	98	c.55C>G	c.(55-57)Cgg>Ggg	p.R19G		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	19					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AGGAGAGTCCGAGGATGGACC	0.657													6	49					0	0	0	0	C	60392364	G	C	60392364	3	2	401	1	0	0	0	0	1	0	0	0	4204	1057	37	3	1489	3	CYP2J2	1	60392364	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	23109659	60392364	188858257	3	76905											
NEGR1	257194	broad.mit.edu	37	chr1	72400775	72400775	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacataccttgcacagttagAtgcacctgcattgttctggg	9	13	9	10	0	1	1	0	0	1	1	1	1	1	1	2	1	5	5	2	1	3	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:72400775A>C	ENST00000357731.4	-	2	635	c.396T>G	c.(394-396)caT>caG	p.H132Q	NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Q|NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Q|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	132	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCACAGTTAGATGCACCTGCA	0.393													4	19					0	0	0	0	C	72400775	A	C	72400775	3	2	401	1	0	0	0	0	1	0	0	0	10387	330	12	5	692	5	NEGR1	1	72400775	Missense_Mutation	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	12008411	72400775	176849846	4	76906											
SLC44A3	126969	broad.mit.edu	37	chr1	95305516	95305516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttcagccttgtctttggCcatgatgtttaccttcagat	6	19	7	9	0	3	2	2	1	1	1	3	2	3	2	3	1	2	1	3	1	1	7			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:95305516C>T	ENST00000271227.6	+	7	785	c.683C>T	c.(682-684)gCc>gTc	p.A228V	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A196V|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A192V|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A148V|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A160V|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A180V	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	228						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTGTCTTTGGCCATGATGTTT	0.388													12	82					0	0	0	0	T	95305516	C	T	95305516	3	4	401	1	0	0	0	0	1	0	0	0	14725	739	26	4	709	4	SLC44A3	1	95305516	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	22904741	95305516	153945105	5	76907											
AGL	178	broad.mit.edu	37	chr1	100358105	100358105	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgccctaatggatgtaccTtataggttaaatgagatcac	12	12	8	9	0	1	1	1	1	0	1	1	3	1	2	3	2	2	2	3	2	6	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:100358105T>G	ENST00000294724.4	+	24	3679	c.3201T>G	c.(3199-3201)ccT>ccG	p.P1067P	AGL_ENST00000370161.2_Silent_p.P1051P|AGL_ENST00000361915.3_Silent_p.P1067P|AGL_ENST00000361522.4_Silent_p.P1050P|AGL_ENST00000361302.3_Silent_p.P1051P|AGL_ENST00000370163.3_Silent_p.P1067P|AGL_ENST00000370165.3_Silent_p.P1067P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1067			P -> S (in dbSNP:rs3753494).		glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGATGTACCTTATAGGTTAA	0.383													6	28					0	0	0	0	G	100358105	T	G	100358105	2	3	401	1	0	0	0	0	0	0	0	1	384	1596	56	5		5	AGL	1	100358105	Silent	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	5052589	100358105	148892516	6	76908											
CELSR2	1952	broad.mit.edu	37	chr1	109794268	109794268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtccccttaggctacCtggttctccatgtccaggct	6	12	10	13	0	1	1	0	0	1	1	4	1	3	1	5	3	1	3	5	3	2	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:109794268C>T	ENST00000271332.3	+	1	1628	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	523	Cadherin 4.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTAGGCTACCTGGTTCTCCA	0.562													19	113					0	0	0	0	T	109794268	C	T	109794268	2	4	401	1	0	0	0	0	0	0	0	1	3251	680	24	4		4	CELSR2	1	109794268	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	9436163	109794268	139456353	7	76909											
SPTA1	6708	broad.mit.edu	37	chr1	158650472	158650472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttcttatgcagaacttcGgtgcgctcccagtcttcacc	8	13	7	13	2	3	1	1	0	2	1	5	1	4	1	2	1	3	2	2	1	3	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:158650472G>A	ENST00000368148.3	-	5	759	c.579C>T	c.(577-579)acC>acT	p.T193T	SPTA1_ENST00000368147.3_Silent_p.T193T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	193					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGAACTTCGGTGCGCTCCC	0.463													8	63					0	0	0	0	A	158650472	G	A	158650472	2	1	401	1	0	0	0	0	0	0	0	1	15206	1103	39	1		1	SPTA1	1	158650472	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	48856204	158650472	90600149	8	76910											
OR6N1	128372	broad.mit.edu	37	chr1	158735784	158735784	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcctcttgccggcagctGagggaattctgagcactgtg	6	11	12	12	1	2	2	0	2	2	0	3	3	3	3	3	2	3	3	3	2	1	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:158735784G>C	ENST00000335094.2	-	1	708	c.689C>G	c.(688-690)tCa>tGa	p.S230*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCCGGCAGCTGAGGGAATTCT	0.498													22	116					0	0	0	0	C	158735784	G	C	158735784	4	2	401	1	0	0	0	0	0	1	0	0	11277	1294	45	2	252	2	OR6N1	1	158735784	Nonsense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	85312	158735784	90514837	9	76911											
DCAF6	55827	broad.mit.edu	37	chr1	167944229	167944229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagacaatgccaatttacGtgtcattatggaactactta	15	12	6	8	1	1	1	1	0	0	1	1	2	1	2	1	1	5	0	1	1	8	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:167944229G>A	ENST00000367840.3	+	4	508	c.414G>A	c.(412-414)acG>acA	p.T138T	DCAF6_ENST00000367843.3_Silent_p.T138T|DCAF6_ENST00000432587.2_Silent_p.T107T|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000312263.6_Silent_p.T138T	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	138					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GCCAATTTACGTGTCATTATG	0.313													12	64					0	0	0	0	A	167944229	G	A	167944229	2	1	401	1	0	0	0	0	0	0	0	1	4307	1132	40	1		1	DCAF6	1	167944229	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	9208445	167944229	81306392	10	76912											
USH2A	7399	broad.mit.edu	37	chr1	216371768	216371768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagccagtgatggttgTcattgtttgaggaggtttta	8	15	12	6	0	1	2	1	2	0	0	2	3	2	3	2	3	1	3	2	3	2	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:216371768T>C	ENST00000366943.2	-	18	4356	c.3970A>G	c.(3970-3972)Aca>Gca	p.T1324A	USH2A_ENST00000307340.3_Missense_Mutation_p.T1324A|USH2A_ENST00000366942.3_Missense_Mutation_p.T1324A|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1324	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGATGGTTGTCATTGTTTGA	0.443										HNSCC(13;0.011)			9	70					0	0	0	0	C	216371768	T	C	216371768	3	2	401	1	0	0	0	0	1	0	0	0	17132	1667	58	5	11872	5	USH2A	1	216371768	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	48427539	216371768	32878853	11	76913											
USH2A	7399	broad.mit.edu	37	chr1	216495239	216495239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacatgaagtccttcagTgaagctctcctgggagcaga	11	9	10	11	0	3	3	2	2	1	1	5	4	4	4	2	1	2	2	2	1	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:216495239T>C	ENST00000366943.2	-	9	2016	c.1630A>G	c.(1630-1632)Act>Gct	p.T544A	USH2A_ENST00000307340.3_Missense_Mutation_p.T544A|USH2A_ENST00000366942.3_Missense_Mutation_p.T544A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	544	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTCCTTCAGTGAAGCTCTCC	0.413										HNSCC(13;0.011)			13	72					0	0	0	0	C	216495239	T	C	216495239	3	2	401	1	0	0	0	0	1	0	0	0	17132	1696	59	5	14248	5	USH2A	1	216495239	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	123471	216495239	32755382	12	76914											
ASAP2	8853	broad.mit.edu	37	chr2	9496196	9496196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacagaacttaccactttCaagctgaagatgaacaggaa	17	8	8	8	0	1	5	1	3	0	2	1	6	1	6	1	1	4	1	1	1	6	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:9496196C>G	ENST00000281419.3	+	13	1472	c.1132C>G	c.(1132-1134)Caa>Gaa	p.Q378E	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q378E	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	378	PH.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTACCACTTTCAAGCTGAAGA	0.413													9	86					0	0	0	0	G	9496196	C	G	9496196	3	3	401	1	0	0	0	0	1	0	0	0	1015	827	29	2	1182	2	ASAP2	2	9496196	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		9496196	233703177	13	76915											
ALK	238	broad.mit.edu	37	chr2	29754892	29754892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcctgtgcaccgagacgGccagtgtgcagtgctcactg	6	8	15	12	2	1	1	1	0	0	1	1	2	1	1	3	2	4	3	3	2	0	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:29754892G>A	ENST00000389048.3	-	4	1949	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	348	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACCGAGACGGCCAGTGTGCA	0.592			"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	79					0	0	0	0	A	29754892	G	A	29754892	3	1	401	1	0	0	0	0	1	0	0	0	525	1203	42	4	3923	4	ALK	2	29754892	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	20258696	29754892	213444481	14	76916											
BIRC6	57448	broad.mit.edu	37	chr2	32640716	32640716	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaaaggtgagctggaatCaaatcttgctgtagtgaatg	13	10	13	5	1	2	2	1	2	1	0	2	4	2	4	0	3	2	3	0	3	5	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:32640716C>A	ENST00000421745.2	+	10	2491	c.2357C>A	c.(2356-2358)tCa>tAa	p.S786*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	786					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.S786*(1)|p.S758*(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGCTGGAATCAAATCTTGCT	0.368													12	54					1.5842e-08	1.68663e-08	1	0	A	32640716	C	A	32640716	4	1	401	1	0	0	0	0	0	1	0	0	1443	838	29	2	2395	2	BIRC6	2	32640716	Nonsense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	2885824	32640716	210558657	15	76917											
TET3	200424	broad.mit.edu	37	chr2	74273738	74273738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accgtgagatgagtcgtgagGctgggaacaacagcagggga	12	5	17	7	2	0	3	0	3	0	1	1	6	0	5	1	4	3	2	1	4	2	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:74273738G>T	ENST00000409262.3	+	1	289	c.289G>T	c.(289-291)Gct>Tct	p.A97S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	97							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGTCGTGAGGCTGGGAACAA	0.637													5	48					0.014758	0.0149394	1	0	T	74273738	G	T	74273738	3	4	401	1	0	0	0	0	1	0	0	0	15865	1203	42	4	291	4	TET3	2	74273738	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	41633022	74273738	168925635	16	76918											
IMMT	10989	broad.mit.edu	37	chr2	86378626	86378626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgagggagttcagatcatCagtagagagcttgtcagcta	13	10	12	6	0	4	3	4	1	0	2	4	5	4	4	0	1	2	4	0	1	3	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:86378626C>T	ENST00000410111.3	-	12	1582	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	IMMT_ENST00000409051.2_Missense_Mutation_p.D352N|IMMT_ENST00000442664.2_Missense_Mutation_p.D398N|IMMT_ENST00000254636.5_Missense_Mutation_p.D300N|IMMT_ENST00000449247.2_Missense_Mutation_p.D388N	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	399						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCAGATCATCAGTAGAGAGC	0.408													8	49					0	0	0	0	T	86378626	C	T	86378626	3	4	401	1	0	0	0	0	1	0	0	0	7771	826	29	2	1097	2	IMMT	2	86378626	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	12104888	86378626	156820747	17	76919											
IWS1	55677	broad.mit.edu	37	chr2	128263003	128263003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggagctcctcaatctcaGaatcactggcgggatgcttc	8	11	10	12	1	4	1	3	0	2	1	7	3	5	3	1	3	2	2	1	3	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:128263003G>C	ENST00000295321.4	-	3	735	c.476C>G	c.(475-477)tCt>tGt	p.S159C	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.S166C	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	159	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCAATCTCAGAATCACTGGC	0.463													20	79					0	0	0	0	C	128263003	G	C	128263003	3	2	401	1	0	0	0	0	1	0	0	0	7984	942	33	2	2031	2	IWS1	2	128263003	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	41884377	128263003	114936370	18	76920											
NEB	4703	broad.mit.edu	37	chr2	152580789	152580789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttgctgaacatggcGgtgttcttaacggcctggac	7	12	11	11	2	1	1	0	1	1	0	1	2	1	2	2	4	4	2	2	4	3	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:152580789G>A	ENST00000427231.2	-	8	799	c.597C>T	c.(595-597)acC>acT	p.T199T	NEB_ENST00000409198.1_Silent_p.T199T|NEB_ENST00000603639.1_Silent_p.T199T|NEB_ENST00000604864.1_Silent_p.T199T|NEB_ENST00000172853.10_Silent_p.T199T|NEB_ENST00000397345.3_Silent_p.T199T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	199					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAACATGGCGGTGTTCTTAA	0.453													6	16					0	0	0	0	A	152580789	G	A	152580789	2	1	401	1	0	0	0	0	0	0	0	1	10372	1103	39	1		1	NEB	2	152580789	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	24317786	152580789	90618584	19	76921											
ACVR1C	130399	broad.mit.edu	37	chr2	158397619	158397619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctccgactgaacacctcCgggctatttcccagtaaacc	10	9	6	16	2	0	1	0	1	0	0	3	2	3	1	6	1	3	2	6	1	5	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:158397619C>T	ENST00000243349.7	-	7	1568	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q	ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323Q|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353Q|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246Q	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	403	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGAACACCTCCGGGCTATTTC	0.388													11	72					0	0	0	0	T	158397619	C	T	158397619	3	4	401	1	0	0	0	0	1	0	0	0	222	652	23	1	285	1	ACVR1C	2	158397619	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	5816830	158397619	84801754	20	76922											
ZNF804A	91752	broad.mit.edu	37	chr2	185800792	185800792	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttccaaagaaagcgtcCgtgaagctagagtcctcagc	12	8	10	11	2	1	3	1	1	0	2	4	3	4	3	3	0	3	2	3	0	4	2	rs148931756	byFrequency	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:185800792C>T	ENST00000302277.6	+	4	1263	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	223						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAAGCGTCCGTGAAGCTAG	0.428													12	49					0	0	0	0	T	185800792	C	T	185800792	2	4	401	1	0	0	0	0	0	0	0	1	18263	639	23	1		1	ZNF804A	2	185800792	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	27403173	185800792	57398581	21	76923											
ZNF662	389114	broad.mit.edu	37	chr3	42956616	42956616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagatctttctcagcacCagagggtccacactggggac	10	8	10	13	0	3	2	2	0	2	2	5	3	4	3	2	3	1	1	2	3	0	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:42956616C>A	ENST00000541208.1	+	5	1420	c.1051C>A	c.(1051-1053)Cag>Aag	p.Q351K	ZNF662_ENST00000440367.2_Missense_Mutation_p.Q351K|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.Q377K|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCTCAGCACCAGAGGGTCCA	0.483													4	57					0.00909568	0.0092454	1	0	A	42956616	C	A	42956616	3	1	401	1	0	0	0	0	1	0	0	0	18166	595	21	4	1252	4	ZNF662	3	42956616	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		42956616	155065814	22	76924											
IMPG2	50939	broad.mit.edu	37	chr3	100964680	100964680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatccagaagtcctttcCtcagaagccacaggcaagcc	12	7	9	13	0	1	3	1	1	0	3	4	4	4	3	5	1	2	1	5	1	3	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:100964680C>T	ENST00000193391.7	-	12	1696	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	503					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGTCCTTTCCTCAGAAGCCA	0.473													5	190					0	0	0	0	T	100964680	C	T	100964680	2	4	401	1	0	0	0	0	0	0	0	1	7782	680	24	4		4	IMPG2	3	100964680	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	58008064	100964680	97057750	23	76925											
RETNLB	84666	broad.mit.edu	37	chr3	108475982	108475982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtactccccgggttgatCagctggagaagggggattag	9	9	16	7	1	1	3	1	2	0	1	2	5	2	4	2	4	2	3	2	4	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:108475982C>T	ENST00000295755.6	-	1	249	c.51G>A	c.(49-51)ctG>ctA	p.L17L		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	17					cell proliferation	extracellular region	hormone activity	p.L17L(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CCGGGTTGATCAGCTGGAGAA	0.522													18	36					0	0	0	0	T	108475982	C	T	108475982	2	4	401	1	0	0	0	0	0	0	0	1	13319	813	29	2		2	RETNLB	3	108475982	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	7511302	108475982	89546448	24	76926											
PARP14	54625	broad.mit.edu	37	chr3	122422803	122422816	+	Frame_Shift_Del	DEL	ATGGTAGCACATCT	ATGGTAGCACATCT	-																															ggtagctccggagtggagaaAtggtagcacatcttcactca																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:122422803_122422816delATGGTAGCACATCT	ENST00000474629.2	+	7	3562_3575	c.3296_3309delATGGTAGCACATCT	c.(3295-3309)afs	p.NGSTS1099fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1099	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAGTGGAGAAATGGTAGCACATCTTCACTCAAGG	0.5													15	121	---	---	---	---					-	122422816	ATGGTAGCACATCT	-	122422803	7	5	401	1	0	1	0	1	0	0	0	0	11529	101	4	0	3322	0	PARP14	3	122422803	Frame_Shift_Del	DEL	ATGGTAGCACATCT	TCGA-F7-A50J-01A-21D-A28R-08	13946821	122422803	75599627	25	76927											
IFT80	57560	broad.mit.edu	37	chr3	159996983	159996983	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctaaaatgtaaattacctTaacaaagcgacaaagtctca	19	10	4	8	1	2	0	1	0	2	0	3	1	2	0	1	0	3	1	1	0	8	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:159996983T>G	ENST00000326448.7	-	16	2266	c.1834A>C	c.(1834-1836)Aag>Cag	p.K612Q	IFT80_ENST00000483465.1_Missense_Mutation_p.K475Q|IFT80_ENST00000496589.1_Missense_Mutation_p.K475Q|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.K783Q	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	612						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAATTACCTTAACAAAGCGA	0.338													5	43					0	0	0	0	G	159996983	T	G	159996983	3	3	401	1	0	0	0	0	1	0	0	0	7617	1763	61	5	519	5	IFT80	3	159996983	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	37574180	159996983	38025447	26	76928											
SI	6476	broad.mit.edu	37	chr3	164748501	164748501	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagttaaaattattattaccGttctccatacacagccacgt	13	14	4	10	2	1	0	0	0	1	0	2	0	1	0	3	0	3	2	3	0	7	7			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:164748501G>A	ENST00000264382.3	-	25	2953	c.2892_splice	c.e25+1	p.T964_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	964	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTATTACCGTTCTCCATAC	0.299										HNSCC(35;0.089)			27	44					0	0	0	0	A	164748501	G	A	164748501	5	1	401	1	0	0	0	0	0	0	1	0	14385	1159	40	1	2688	1	SI	3	164748501	Splice_Site	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	4751518	164748501	33273929	27	76929											
PIK3CA	5290	broad.mit.edu	37	chr3	178952146	178952147	+	Frame_Shift_Ins	INS	-	-	A																															caattaaacagcatgcattgINSaactgaaaagataactgaga																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:178952146_178952147insA	ENST00000263967.3	+	21	3358_3359	c.3201_3202insA	c.(3199-3204)ttactgfs	p.L1068fs		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1068	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCATGCATTGAACTGAAAAGA	0.396		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	55	---	---	---	---					A	178952147	-	A	178952146	7	5	401	1	0	1	1	0	0	0	0	0	11985	1281	45	0	3279	0	PIK3CA	3	178952146	Frame_Shift_Ins	INS	-	TCGA-F7-A50J-01A-21D-A28R-08	14203645	178952146	19070284	28	76930											
ECE2	9718	broad.mit.edu	37	chr3	184008621	184008621	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgtggtcatgggccatGagttgacgcatgcctttgat	6	13	14	8	2	1	3	1	3	0	0	2	3	1	3	2	3	1	2	2	3	0	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:184008621G>T	ENST00000402825.3	+	16	2161	c.2161G>T	c.(2161-2163)Gag>Tag	p.E721*	ECE2_ENST00000359140.4_Nonsense_Mutation_p.E574*|ECE2_ENST00000357474.5_Nonsense_Mutation_p.E649*|ECE2_ENST00000404464.3_Nonsense_Mutation_p.E603*|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	721	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATGGGCCATGAGTTGACGCA	0.577													11	151					1.5842e-08	1.68663e-08	1	0	T	184008621	G	T	184008621	4	4	401	1	0	0	0	0	0	1	0	0	4926	1291	45	2	2787	2	ECE2	3	184008621	Nonsense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	5056475	184008621	14013809	29	76931											
GRK4	2868	broad.mit.edu	37	chr4	3037154	3037154	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggctgggctgcaggggCgagggagcggctggggtgaa	7	4	23	7	3	0	1	0	1	0	0	0	3	0	2	0	8	3	4	0	8	2	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:3037154C>T	ENST00000398052.4	+	13	1654	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	GRK4_ENST00000509545.1_Intron|GRK4_ENST00000504933.1_Silent_p.G437G|GRK4_ENST00000398051.4_Silent_p.G405G|GRK4_ENST00000345167.6_Silent_p.G405G	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	437	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCAGGGGCGAGGGAGCGG	0.537													18	69					0	0	0	0	T	3037154	C	T	3037154	2	4	401	1	0	0	0	0	0	0	0	1	6841	755	27	1		1	GRK4	4	3037154	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		3037154	188117122	30	76932											
OTOP1	133060	broad.mit.edu	37	chr4	4199751	4199751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactctatgttgaaggggtaGaggtagtagatcccgtggga	10	11	15	5	1	1	3	0	1	1	2	2	4	2	4	1	4	1	4	1	4	6	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:4199751G>A	ENST00000296358.4	-	5	834	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	270					biomineral tissue development	extracellular space|integral to membrane				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)		TGAAGGGGTAGAGGTAGTAGA	0.527													6	82					0	0	0	0	A	4199751	G	A	4199751	2	1	401	1	0	0	0	0	0	0	0	1	11376	929	33	2		2	OTOP1	4	4199751	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	1162597	4199751	186954525	31	76933											
KIAA0232	9778	broad.mit.edu	37	chr4	6864034	6864034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagatattaatgaaggatCtggtataaactcttgttttt	12	18	7	4	0	3	2	1	1	2	1	3	3	3	3	0	2	1	2	0	2	6	8			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:6864034C>G	ENST00000307659.5	+	7	2380	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S642C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	642							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AATGAAGGATCTGGTATAAAC	0.378													3	28					0	0	0	0	G	6864034	C	G	6864034	3	3	401	1	0	0	0	0	1	0	0	0	8214	913	32	2	1943	2	KIAA0232	4	6864034	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	2664283	6864034	184290242	32	76934											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414511	73414511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctctttttgtgactcGcagaaagagtatgggagaga	11	11	12	7	1	1	5	0	2	1	3	2	7	1	6	1	1	0	2	1	1	2	3	rs145300703		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:73414511G>A	ENST00000286657.4	-	3	224	c.188C>T	c.(187-189)gCg>gTg	p.A63V	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	63					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGTGACTCGCAGAAAGAGT	0.448													13	55					0	0	0	0	A	73414511	G	A	73414511	3	1	401	1	0	0	0	0	1	0	0	0	267	1087	38	1	3509	1	ADAMTS3	4	73414511	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	66550477	73414511	117739765	33	76935											
FAT4	79633	broad.mit.edu	37	chr4	126398448	126398448	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcaatggaaggcctctGgaacccagccaagctttggc	10	7	12	12	0	2	0	1	0	1	0	2	2	2	2	3	4	3	2	3	4	4	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:126398448G>T	ENST00000394329.3	+	13	12445	c.12432G>T	c.(12430-12432)ctG>ctT	p.L4144L	FAT4_ENST00000335110.5_Silent_p.L2407L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4144	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGGCCTCTGGAACCCAGCC	0.408													18	115					5.3912e-06	5.64249e-06	1	0	T	126398448	G	T	126398448	2	4	401	1	0	0	0	0	0	0	0	1	5737	1335	47	4		4	FAT4	4	126398448	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	52983937	126398448	64755828	34	76936											
GLRA3	8001	broad.mit.edu	37	chr4	175598261	175598261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtgatcctgaactctGtgtagtcatcgttagcacag	9	12	10	10	2	2	2	1	2	1	0	5	2	3	2	1	0	3	4	1	0	3	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:175598261G>C	ENST00000274093.3	-	7	1397	c.895C>G	c.(895-897)Cag>Gag	p.Q299E	GLRA3_ENST00000340217.5_Missense_Mutation_p.Q299E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	299					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CCTGAACTCTGTGTAGTCATC	0.448													3	33					0	0	0	0	C	175598261	G	C	175598261	3	2	401	1	0	0	0	0	1	0	0	0	6507	1386	48	4	515	4	GLRA3	4	175598261	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	49199813	175598261	15556015	35	76937											
WDR17	116966	broad.mit.edu	37	chr4	177067180	177067180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgtgaagacacaaatGttcgtgtttattatgtagcc	10	14	10	7	1	0	2	0	1	0	1	1	2	0	2	1	1	1	4	1	1	5	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:177067180G>C	ENST00000393643.2	+	12	1816	c.1564G>C	c.(1564-1566)Gtt>Ctt	p.V522L	WDR17_ENST00000280190.4_Missense_Mutation_p.V546L|WDR17_ENST00000507824.2_Missense_Mutation_p.V529L|WDR17_ENST00000508596.1_Missense_Mutation_p.V522L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	546										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGACACAAATGTTCGTGTTTA	0.343													13	36					0	0	0	0	C	177067180	G	C	177067180	3	2	401	1	0	0	0	0	1	0	0	0	17373	1377	48	4	1682	4	WDR17	4	177067180	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	1468919	177067180	14087096	36	76938											
PAPD7	11044	broad.mit.edu	37	chr5	6750447	6750447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttttccctccacagacaGcaggatcaagatcaaagagc	13	8	8	12	0	2	3	2	0	0	3	4	4	4	4	2	1	2	2	2	1	2	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:6750447G>A	ENST00000230859.6	+	10	1070	c.941G>A	c.(940-942)aGc>aAc	p.S314N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	314					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCCACAGACAGCAGGATCAAG	0.587													21	78					0	0	0	0	A	6750447	G	A	6750447	3	1	401	1	0	0	0	0	1	0	0	0	11497	971	34	4	975	4	PAPD7	5	6750447	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08		6750447	174164813	37	76939											
DNAH5	1767	broad.mit.edu	37	chr5	13824339	13824339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatgtcccgtagtacaCgcatgacaatcgtggactcc	10	10	9	12	3	1	1	1	1	0	0	4	3	3	2	2	1	1	3	2	1	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:13824339C>T	ENST00000265104.4	-	39	6652	c.6548G>A	c.(6547-6549)cGt>cAt	p.R2183H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2183					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2183L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCGTAGTACACGCATGACAAT	0.448									Kartagener syndrome				13	60					0	0	0	0	T	13824339	C	T	13824339	3	4	401	1	0	0	0	0	1	0	0	0	4641	536	19	1	7490	1	DNAH5	5	13824339	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	7073892	13824339	167090921	38	76940											
ZFYVE16	9765	broad.mit.edu	37	chr5	79752906	79752906	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgccactggccatcctaGaaaaggtgagcatcttggtt	10	10	11	10	0	1	2	0	1	1	1	2	2	2	2	3	3	2	2	3	3	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:79752906G>C	ENST00000338008.5	+	13	4118	c.3938G>C	c.(3937-3939)aGa>aCa	p.R1313T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.R1313T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.R1313T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1313					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GGCCATCCTAGAAAAGGTGAG	0.368													4	46					0	0	0	0	C	79752906	G	C	79752906	3	2	401	1	0	0	0	0	1	0	0	0	17759	942	33	2	3984	2	ZFYVE16	5	79752906	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	65928567	79752906	101162354	39	76941											
PJA2	9867	broad.mit.edu	37	chr5	108714761	108714761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctggaatatactctccctCagagtgattatgaagatttg	11	14	8	8	0	2	4	1	2	1	2	4	5	3	5	2	1	1	0	2	1	5	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:108714761C>T	ENST00000361189.2	-	4	666	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PJA2_ENST00000361557.3_Missense_Mutation_p.E143K	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	143					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TACTCTCCCTCAGAGTGATTA	0.428													12	53					0	0	0	0	T	108714761	C	T	108714761	3	4	401	1	0	0	0	0	1	0	0	0	12034	835	29	2	1727	2	PJA2	5	108714761	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	28961855	108714761	72200499	40	76942											
PCDHA3	56145	broad.mit.edu	37	chr5	140182628	140182628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagctgcagcctgggaccGgcggtgcgcgcatcccgttt	5	8	15	13	5	0	1	0	1	0	0	1	2	1	2	3	3	4	4	3	3	0	1	rs142788061		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140182628G>A	ENST00000522353.2	+	1	1846	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G616S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGGACCGGCGGTGCGCG	0.677													22	98					0	0	0	0	A	140182628	G	A	140182628	3	1	401	1	0	0	0	0	1	0	0	0	11596	1116	39	1	1848	1	PCDHA3	5	140182628	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	31467867	140182628	40732632	41	76943											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347000	140347000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgtaagggcctagacCgggagcaggcagccttgcac	8	6	15	12	2	0	1	0	0	0	1	0	2	0	2	3	3	5	5	3	3	2	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140347000C>T	ENST00000289269.5	+	1	1181	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		217	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCTAGACCGGGAGCAGGC	0.627													7	55					0	0	0	0	T	140347000	C	T	140347000	3	4	401	1	0	0	0	0	1	0	0	0	11604	643	23	1	651	1	PCDHAC2	5	140347000	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	164372	140347000	40568260	42	76944											
PCDHB13	56123	broad.mit.edu	37	chr5	140594317	140594317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaccgagaggaagaagctGagctcaggttaacactcaca	14	6	12	9	1	2	3	2	1	0	2	2	6	2	5	1	3	3	3	1	3	3	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140594317G>A	ENST00000341948.4	+	1	809	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		208	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGAAGCTGAGCTCAGGTT	0.562													5	116					0	0	0	0	A	140594317	G	A	140594317	3	1	401	1	0	0	0	0	1	0	0	0	11609	1291	45	2	624	2	PCDHB13	5	140594317	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	247317	140594317	40320943	43	76945											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730249	140730250	+	Frame_Shift_Ins	INS	-	-	GTCAG																															attgacttagaaatttgtgaINSgtcagccttacccggggtaa																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140730249_140730250insGTCAG	ENST00000523390.1	+	1	422_423	c.422_423insGTCAG	c.(421-423)gtcfs	p.V141fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTTGTGAGTCAGCCTTAC	0.406													8	140	---	---	---	---					GTCAG	140730250	-	GTCAG	140730249	7	5	401	1	0	1	1	0	0	0	0	0	11633	304	11	0	424	0	PCDHGB1	5	140730249	Frame_Shift_Ins	INS	-	TCGA-F7-A50J-01A-21D-A28R-08	135932	140730249	40185011	44	76946											
NR3C1	2908	broad.mit.edu	37	chr5	142680152	142680152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtctggaacagagctatCatatcctgcatataacactt	13	12	7	9	0	2	2	1	1	1	1	3	3	3	3	1	1	4	2	1	1	5	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:142680152C>T	ENST00000343796.2	-	5	2638	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	NR3C1_ENST00000394464.2_Missense_Mutation_p.D549N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D550N|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000415690.2_Missense_Mutation_p.D549N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D523N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D550N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D550N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D549N|NR3C1_ENST00000416954.2_Missense_Mutation_p.D152N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	549	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	ACAGAGCTATCATATCCTGCA	0.463													27	150					0	0	0	0	T	142680152	C	T	142680152	3	4	401	1	0	0	0	0	1	0	0	0	10701	826	29	2	760	2	NR3C1	5	142680152	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	1949903	142680152	38235108	45	76947											
GFPT2	9945	broad.mit.edu	37	chr5	179743800	179743800	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctggttccacagccaatCacgatgagccgtcggcatcg	9	8	11	13	4	1	1	1	1	0	0	4	2	2	1	3	2	3	3	3	2	2	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:179743800C>G	ENST00000253778.8	-	12	1285	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	372	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CACAGCCAATCACGATGAGCC	0.572													4	41					0	0	0	0	G	179743800	C	G	179743800	2	3	401	1	0	0	0	0	0	0	0	1	6397	813	29	2		2	GFPT2	5	179743800	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	37063648	179743800	1171460	46	76948											
GCNT2	2651	broad.mit.edu	37	chr6	10557019	10557019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttacatgccccaaaatatCtactgtgttcatgtggatga	12	14	7	8	0	2	1	1	1	1	0	2	2	2	2	2	1	3	1	2	1	5	5	rs55910733		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:10557019C>G	ENST00000316170.3	+	1	780	c.363C>G	c.(361-363)atC>atG	p.I121M	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	123						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CCCAAAATATCTACTGTGTTC	0.418													14	83					0	0	0	0	G	10557019	C	G	10557019	3	3	401	1	0	0	0	0	1	0	0	0	6350	903	32	2	1294	2	GCNT2	6	10557019	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		10557019	160558048	47	76949											
HLA-A	3105	broad.mit.edu	37	chr6	29910357	29910357	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcatggcgccccgaaccctCctcctgctactctcgggggc	4	8	11	18	3	2	0	1	0	1	0	5	1	4	0	5	3	3	1	5	3	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:29910357C>G	ENST00000396634.1	+	3	368	c.27C>G	c.(25-27)ctC>ctG	p.L9L	HLA-A_ENST00000376809.5_Silent_p.L9L|HLA-A_ENST00000376802.2_Silent_p.L9L|HLA-A_ENST00000376806.5_Silent_p.L9L			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	9					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCCGAACCCTCCTCCTGCTAC	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			19	99					0	0	0	0	G	29910357	C	G	29910357	2	3	401	1	0	0	0	0	0	0	0	1	7245	842	30	2		2	HLA-A	6	29910357	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	19353338	29910357	141204710	48	76950											
GFRAL	389400	broad.mit.edu	37	chr6	55216136	55216136	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacagttggcctcttacctTaaagcttgctcagcaaatgg	10	11	9	11	0	2	0	1	0	1	0	2	0	2	0	2	2	4	5	2	2	4	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:55216136T>G	ENST00000340465.2	+	5	542	c.456T>G	c.(454-456)ctT>ctG	p.L152L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	152						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTCTTACCTTAAAGCTTGCT	0.443													8	174					0	0	0	0	G	55216136	T	G	55216136	2	3	401	1	0	0	0	0	0	0	0	1	6402	1741	61	5		5	GFRAL	6	55216136	Silent	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	25305779	55216136	115898931	49	76951											
COL19A1	1310	broad.mit.edu	37	chr6	70812088	70812088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggaaaacaggacctcccGgaaaaccaggacccccagga	15	1	12	13	1	0	0	0	0	0	0	1	6	1	5	5	5	2	0	5	5	4	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:70812088G>A	ENST00000322773.4	+	16	1354	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G40R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	418	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGACCTCCCGGAAAACCAGG	0.378													8	79					0	0	0	0	A	70812088	G	A	70812088	3	1	401	1	0	0	0	0	1	0	0	0	3706	1117	39	1	1310	1	COL19A1	6	70812088	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	15595952	70812088	100302979	50	76952											
ASCC3	10973	broad.mit.edu	37	chr6	101103624	101103624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatggatttgctctcatcCgtacataaagataagtgtaa	14	13	7	7	1	1	1	1	0	1	1	3	2	2	2	1	1	2	3	1	1	6	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:101103624C>T	ENST00000369162.2	-	17	3118	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGCTCTCATCCGTACATAAAG	0.338													7	65					0	0	0	0	T	101103624	C	T	101103624	3	4	401	1	0	0	0	0	1	0	0	0	1037	652	23	1	3938	1	ASCC3	6	101103624	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	30291536	101103624	70011443	51	76953											
LPA	4018	broad.mit.edu	37	chr6	160999616	160999616	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagttgtgaggacactCgattctgtcactggacatcg	8	11	14	8	2	2	1	1	1	1	0	4	5	2	4	0	3	0	1	0	3	0	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:160999616C>A	ENST00000447678.1	-	28	4530	c.4410G>T	c.(4408-4410)tcG>tcT	p.S1470S	LPA_ENST00000316300.5_Silent_p.S1470S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3978	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGAGGACACTCGATTCTGTCA	0.507													22	105					1.66031e-10	1.79866e-10	1	0	A	160999616	C	A	160999616	2	1	401	1	0	0	0	0	0	0	0	1	8967	871	31	3		3	LPA	6	160999616	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	59895992	160999616	10115451	52	76954											
TCP10L2	401285	broad.mit.edu	37	chr6	167595385	167595385	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgcatgccgctccctccaGacaggacatggggccctgac	7	7	11	16	1	1	2	0	1	1	1	3	3	3	3	4	3	2	2	4	3	0	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:167595385G>C	ENST00000366832.2	+	8	1174	c.1043G>C	c.(1042-1044)aGa>aCa	p.R348T		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	348										endometrium(1)|kidney(2)|lung(3)	6						GCTCCCTCCAGACAGGACATG	0.522													9	16					0	0	0	0	C	167595385	G	C	167595385	3	2	401	1	0	0	0	0	1	0	0	0	15806	942	33	2	1069	2	TCP10L2	6	167595385	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	6595769	167595385	3519682	53	76955											
MICALL2	79778	broad.mit.edu	37	chr7	1498917	1498917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attcacgtcgcggtagccctCgcactgctgccggcaccact	6	8	10	17	5	1	0	1	0	0	0	3	0	1	0	3	2	3	4	3	2	1	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:1498917C>G	ENST00000297508.7	-	1	221	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	MICALL2_ENST00000405088.4_Missense_Mutation_p.E16Q	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	16	CH.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CGGTAGCCCTCGCACTGCTGC	0.701													4	22					0	0	0	0	G	1498917	C	G	1498917	3	3	401	1	0	0	0	0	1	0	0	0	9643	893	31	3	2736	3	MICALL2	7	1498917	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		1498917	157639746	54	76956											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC																															ctcccgccggagccgccgctINSggggtgggtgccgggcctgg																								rs3837151	by1000genomes	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													11	55	---	---	---	---					GCC	1586663	-	GCC	1586662	7	5	401	1	0	1	1	0	0	0	0	0	16198	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-F7-A50J-01A-21D-A28R-08	87745	1586662	157552001	55	76957											
DNAH11	8701	broad.mit.edu	37	chr7	21818701	21818701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagccgggaaaagaccatCgctgatgctgaggagcgaaa	13	5	15	8	3	0	4	0	3	0	1	1	7	0	6	2	2	3	2	2	2	3	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:21818701C>T	ENST00000328843.6	+	58	9514	c.9483C>T	c.(9481-9483)atC>atT	p.I3161I	DNAH11_ENST00000409508.3_Silent_p.I3154I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3161	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGACCATCGCTGATGCTG	0.463									Kartagener syndrome				6	34					0	0	0	0	T	21818701	C	T	21818701	2	4	401	1	0	0	0	0	0	0	0	1	4636	874	31	1		1	DNAH11	7	21818701	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	20232039	21818701	137319962	56	76958											
NPVF	64111	broad.mit.edu	37	chr7	25267994	25267994	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgcacaaaaaatgtttGatgttaacaagcttgaagtg	15	12	8	6	0	1	2	0	2	1	0	1	2	1	2	0	0	3	4	0	0	6	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:25267994G>C	ENST00000222674.2	-	1	111	c.65C>G	c.(64-66)tCa>tGa	p.S22*		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	22					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AAAAATGTTTGATGTTAACAA	0.289													6	28					0	0	0	0	C	25267994	G	C	25267994	4	2	401	1	0	0	0	0	0	1	0	0	10676	1294	45	2	537	2	NPVF	7	25267994	Nonsense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	3449293	25267994	133870669	57	76959											
ABCA13	154664	broad.mit.edu	37	chr7	48318210	48318210	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaacagagcaacattagaAattactaagagattagttgg	19	9	9	4	0	0	4	0	0	0	4	0	5	0	4	0	1	4	2	0	1	7	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:48318210A>T	ENST00000435803.1	+	18	7443	c.7419A>T	c.(7417-7419)gaA>gaT	p.E2473D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2473					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAACATTAGAAATTACTAAGA	0.373													20	82					0	0	0	0	T	48318210	A	T	48318210	3	4	401	1	0	0	0	0	1	0	0	0	31	11	1	5	7318	5	ABCA13	7	48318210	Missense_Mutation	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	23050216	48318210	110820453	58	76960											
ZNF679	168417	broad.mit.edu	37	chr7	63726909	63726909	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccatacacatgtgaaGaatgtggcaaagcctttagc	16	8	9	8	0	0	3	0	1	0	2	0	3	0	3	2	1	4	1	2	1	6	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:63726909G>T	ENST00000421025.1	+	5	1167	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.E300*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CACATGTGAAGAATGTGGCAA	0.443													24	26					2.32416e-17	2.57429e-17	1	0	T	63726909	G	T	63726909	4	4	401	1	0	0	0	0	0	1	0	0	18181	943	33	2	912	2	ZNF679	7	63726909	Nonsense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	15408699	63726909	95411754	59	76961											
TYW1B	441250	broad.mit.edu	37	chr7	72277669	72277669	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcggtataccttggtgtctCtgtgatgcaattcgtcctgc	5	14	12	10	2	1	1	0	1	1	0	4	1	2	1	2	3	3	2	2	3	3	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:72277669C>G	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTTGGTGTCTCTGTGATGCAA	0.512													6	27					0	0	0	0	G	72277669	C	G	72277669	1	3	401	0	1	0	0	0	0	0	0	0	16915	913	32	2		2	TYW1B	7	72277669	RNA	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	8550760	72277669	86860994	60	76962											
PCLO	27445	broad.mit.edu	37	chr7	82544334	82544334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactaaaggaaacatctagaGcttcagcctcttgagctttc	12	11	8	10	0	3	2	1	1	2	1	4	4	3	3	1	1	4	2	1	1	4	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:82544334G>A	ENST00000423517.2	-	7	13305	c.12968C>T	c.(12967-12969)gCt>gTt	p.A4323V	PCLO_ENST00000437081.1_Missense_Mutation_p.A1043V|PCLO_ENST00000333891.8_Missense_Mutation_p.A4323V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4254					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACATCTAGAGCTTCAGCCTC	0.443													8	30					0	0	0	0	A	82544334	G	A	82544334	3	1	401	1	0	0	0	0	1	0	0	0	11654	971	34	4	2553	4	PCLO	7	82544334	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	10266665	82544334	76594329	61	76963											
SAMD9	54809	broad.mit.edu	37	chr7	92731813	92731813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaagcccaacttctatctCtccttgataaccagctatat	12	13	4	12	0	2	1	0	1	2	0	4	1	3	1	3	0	4	2	3	0	7	7			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:92731813C>G	ENST00000379958.2	-	3	3867	c.3598G>C	c.(3598-3600)Gag>Cag	p.E1200Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1200						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCTATCTCTCCTTGATAA	0.338													23	94					0	0	0	0	G	92731813	C	G	92731813	3	3	401	1	0	0	0	0	1	0	0	0	13911	922	32	2	1175	2	SAMD9	7	92731813	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	10187479	92731813	66406850	62	76964											
DYNC1I1	1780	broad.mit.edu	37	chr7	95614203	95614203	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctcatcttttttgaccgGacaatacgggtaattgaaag	11	15	8	7	2	2	2	1	2	2	0	3	3	2	3	1	2	1	1	1	2	4	7			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:95614203G>T	ENST00000324972.6	+	8	901	c.708G>T	c.(706-708)cgG>cgT	p.R236R	DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R|DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	236					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTTTTGACCGGACAATACGGG	0.403													21	114					7.41877e-09	7.96712e-09	1	0	T	95614203	G	T	95614203	2	4	401	1	0	0	0	0	0	0	0	1	4878	1161	41	2		2	DYNC1I1	7	95614203	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	2882390	95614203	63524460	63	76965											
HTRA4	203100	broad.mit.edu	37	chr8	38834102	38834102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtacagtggctctgggttCatagtgtctgaggacgggct	6	12	16	7	1	3	1	1	1	2	0	3	2	3	2	0	4	1	4	0	4	2	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:38834102C>T	ENST00000302495.4	+	3	715	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	205	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCTCTGGGTTCATAGTGTCTG	0.507													9	79					0	0	0	0	T	38834102	C	T	38834102	2	4	401	1	0	0	0	0	0	0	0	1	7509	825	29	2		2	HTRA4	8	38834102	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		38834102	107529920	64	76966											
PENK	5179	broad.mit.edu	37	chr8	57358464	57358464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacggtcgccaggagccCggggccgagcaacagcagcc	8	1	15	17	5	0	0	0	0	0	0	1	2	0	1	5	4	5	3	5	4	1	0	rs10711116		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:57358464C>T	ENST00000314922.3	-	1	125	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PENK_ENST00000523051.1_Missense_Mutation_p.G17R|PENK_ENST00000451791.2_Missense_Mutation_p.G17R|PENK_ENST00000518770.1_Missense_Mutation_p.G17R|RP11-17A4.2_ENST00000518662.1_RNA	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	17					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCAGGAGCCCGGGGCCGAGC	0.667													20	66					0	0	0	0	T	57358464	C	T	57358464	3	4	401	1	0	0	0	0	1	0	0	0	11798	652	23	1	762	1	PENK	8	57358464	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	18524362	57358464	89005558	65	76967											
PLEC	5339	broad.mit.edu	37	chr8	144993251	144993262	+	In_Frame_Del	DEL	GGCTGCCGCCGC	GGCTGCCGCCGC	-																															ggacatggtggagccgccgtGgctgccgccgccgggaatgt																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:144993251_144993262delGGCTGCCGCCGC	ENST00000322810.4	-	32	11307_11318	c.11138_11149delGCGGCGGCAGCC	c.(11137-11151)gac>g	p.GGGSH3713del	PLEC_ENST00000527096.1_In_Frame_Del_p.GGGSH3599del|PLEC_ENST00000345136.3_In_Frame_Del_p.GGGSH3576del|PLEC_ENST00000354958.2_In_Frame_Del_p.GGGSH3554del|PLEC_ENST00000398774.2_In_Frame_Del_p.GGGSH3544del|PLEC_ENST00000357649.2_In_Frame_Del_p.GGGSH3580del|PLEC_ENST00000354589.3_In_Frame_Del_p.GGGSH3576del|PLEC_ENST00000356346.3_In_Frame_Del_p.GGGSH3562del|PLEC_ENST00000436759.2_In_Frame_Del_p.GGGSH3603del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3713	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.G3715G(1)|p.G3605G(1)|p.G3578G(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGCCGCCGTGGCTGCCGCCGCCGGGAATGTC	0.642													30	225	---	---	---	---					-	144993262	GGCTGCCGCCGC	-	144993251	7	5	401	1	0	1	0	1	0	0	0	0	12124	1348	47	0	2909	0	PLEC	8	144993251	In_Frame_Del	DEL	GGCTGCCGCCGC	TCGA-F7-A50J-01A-21D-A28R-08	87634787	144993251	1370771	66	76968											
IFNA2	3440	broad.mit.edu	37	chr9	21384911	21384911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtatttcctcacagccaGaatggagtcctccttcatca	11	11	7	12	0	3	1	3	0	0	1	6	3	6	2	4	1	1	1	4	1	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:21384911G>A	ENST00000380206.2	-	1	485	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	140					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTCACAGCCAGAATGGAGTCC	0.488													26	176					0	0	0	0	A	21384911	G	A	21384911	2	1	401	1	0	0	0	0	0	0	0	1	7590	933	33	2		2	IFNA2	9	21384911	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08		21384911	119828520	67	76969											
TLN1	7094	broad.mit.edu	37	chr9	35707817	35707817	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtaggattggtggtacGggcagaagccaggcgacagc	10	5	18	8	2	0	1	0	0	0	1	0	3	0	2	1	6	3	4	1	6	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:35707817G>C	ENST00000314888.9	-	35	4896	c.4543C>G	c.(4543-4545)Cgt>Ggt	p.R1515G	TLN1_ENST00000540444.1_Missense_Mutation_p.R1515G|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1515	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGTGGTACGGGCAGAAGCC	0.542													21	179					0	0	0	0	C	35707817	G	C	35707817	3	2	401	1	0	0	0	0	1	0	0	0	16041	1116	39	3	3174	3	TLN1	9	35707817	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	14322906	35707817	105505614	68	76970											
AGTPBP1	23287	broad.mit.edu	37	chr9	88247959	88247959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaaaacctggggctgtttGagaaggaatattctgcaatg	13	11	12	5	0	1	1	0	1	1	1	1	3	1	2	1	3	2	4	1	3	6	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:88247959G>C	ENST00000357081.3	-	14	1777	c.1633C>G	c.(1633-1635)Caa>Gaa	p.Q545E	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Q505E|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.Q383E|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Q557E			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	545					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGGGCTGTTTGAGAAGGAATA	0.423													6	44					0	0	0	0	C	88247959	G	C	88247959	3	2	401	1	0	0	0	0	1	0	0	0	400	1299	45	2	2099	2	AGTPBP1	9	88247959	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	52540142	88247959	52965472	69	76971											
PHF2	5253	broad.mit.edu	37	chr9	96418829	96418829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcagtttcccaactttGaaactgcgtgctggtacatg	9	13	9	10	1	1	2	1	2	0	0	2	2	2	2	1	1	5	3	1	1	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:96418829G>A	ENST00000359246.4	+	9	1466	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	367					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCCCAACTTTGAAACTGCGTG	0.552													19	146					0	0	0	0	A	96418829	G	A	96418829	3	1	401	1	0	0	0	0	1	0	0	0	11902	1291	45	2	1133	2	PHF2	9	96418829	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	8170870	96418829	44794602	70	76972											
ODF2	4957	broad.mit.edu	37	chr9	131231550	131231550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctctctacagaagatgAtgactcaggtcactgtaaaa	14	10	8	9	0	3	5	2	3	1	2	4	5	3	5	1	1	1	1	1	1	4	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:131231550A>G	ENST00000303890.5	+	7	851	c.266A>G	c.(265-267)gAt>gGt	p.D89G	ODF2_ENST00000372814.3_Missense_Mutation_p.D157G|ODF2_ENST00000444119.2_Missense_Mutation_p.D89G|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372807.5_Missense_Mutation_p.D108G|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.D108G|ODF2_ENST00000434106.2_Missense_Mutation_p.D113G|ODF2_ENST00000372796.4_Missense_Mutation_p.D113G|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393533.2_Missense_Mutation_p.D113G|ODF2_ENST00000372791.3_Missense_Mutation_p.D94G|ODF2_ENST00000546203.1_Missense_Mutation_p.D94G	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	113					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACAGAAGATGATGACTCAGGT	0.468													11	99					0	0	0	0	G	131231550	A	G	131231550	3	3	401	1	0	0	0	0	1	0	0	0	10898	333	12	5	407	5	ODF2	9	131231550	Missense_Mutation	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	34812721	131231550	9981881	71	76973											
CRAT	1384	broad.mit.edu	37	chr9	131870200	131870200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcttggtgtgggcccactCctcctcactcacgatgggct	4	11	11	15	1	2	0	2	0	0	0	4	1	4	0	3	3	1	2	3	3	0	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:131870200C>G	ENST00000318080.2	-	2	478	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	CRAT_ENST00000464290.1_5'UTR|CRAT_ENST00000393384.3_Missense_Mutation_p.E62Q	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	62					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGGGCCCACTCCTCCTCACTC	0.657													10	74					0	0	0	0	G	131870200	C	G	131870200	3	3	401	1	0	0	0	0	1	0	0	0	3877	864	30	2	1748	2	CRAT	9	131870200	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	638650	131870200	9343231	72	76974											
NEBL	10529	broad.mit.edu	37	chr10	21097543	21097543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtaccgaaagtactgCtggaatgggatcgagaccag	12	7	13	9	2	0	1	0	0	0	1	1	6	0	3	3	2	3	3	3	2	4	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:21097543C>G	ENST00000377122.4	-	26	3053	c.2657G>C	c.(2656-2658)aGc>aCc	p.S886T	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	886	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAAGTACTGCTGGAATGGGA	0.443													10	88					0	0	0	0	G	21097543	C	G	21097543	3	3	401	1	0	0	0	0	1	0	0	0	10373	797	28	4	399	4	NEBL	10	21097543	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		21097543	114437204	73	76975											
RASGEF1A	221002	broad.mit.edu	37	chr10	43692470	43692470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggtaactctgaatcttCttgtccttctcgaaaggaca	11	12	8	10	1	4	1	0	1	4	0	6	3	5	2	1	2	2	2	1	2	3	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:43692470C>G	ENST00000395809.1	-	11	3808	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K434N|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K442N			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	434	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCTGAATCTTCTTGTCCTTCT	0.537													12	37					0	0	0	0	G	43692470	C	G	43692470	3	3	401	1	0	0	0	0	1	0	0	0	13151	912	32	2	155	2	RASGEF1A	10	43692470	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	22594927	43692470	91842277	74	76976											
ERCC6	2074	broad.mit.edu	37	chr10	50686430	50686430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatctggcaaagaaaggctCatcttgacatctgacttcat	12	13	7	9	0	5	3	2	2	3	1	5	3	5	3	0	2	0	2	0	2	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:50686430C>G	ENST00000355832.5	-	11	2334	c.2256G>C	c.(2254-2256)atG>atC	p.M752I	ERCC6_ENST00000542458.1_Missense_Mutation_p.M122I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	752					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGAAAGGCTCATCTTGACAT	0.403								Direct reversal of damage;Nucleotide excision repair (NER)					19	149					0	0	0	0	G	50686430	C	G	50686430	3	3	401	1	0	0	0	0	1	0	0	0	5255	826	29	2	2269	2	ERCC6	10	50686430	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	6993960	50686430	84848317	75	76977											
CCNJ	54619	broad.mit.edu	37	chr10	97816658	97816658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctctctgaagcagtacacGaaacagatcttcatgacggc	13	9	8	11	2	4	3	1	2	3	1	5	4	4	3	0	1	3	2	0	1	3	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:97816658G>A	ENST00000265992.5	+	4	848	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.E161K|CCNJ_ENST00000465148.2_Missense_Mutation_p.E161K|CCNJ_ENST00000534974.1_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	161						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AGCAGTACACGAAACAGATCT	0.413													14	65					0	0	0	0	A	97816658	G	A	97816658	3	1	401	1	0	0	0	0	1	0	0	0	2957	1059	37	1	491	1	CCNJ	10	97816658	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	47130228	97816658	37718089	76	76978											
PIK3AP1	118788	broad.mit.edu	37	chr10	98392731	98392731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtgaagagagctggtcttCctttgagccagtccttgcat	8	12	11	10	0	1	3	0	2	1	1	3	4	3	3	3	1	3	2	3	1	1	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:98392731C>T	ENST00000371109.3	-	1	267	c.86G>A	c.(85-87)gGa>gAa	p.G29E	PIK3AP1_ENST00000339364.5_Intron|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000371110.2_Intron			Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	0						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		agctggtcttcctttgagcca	0.493													8	54					0	0	0	0	T	98392731	C	T	98392731	3	4	401	1	0	0	0	0	1	0	0	0	11980	870	30	2		2	PIK3AP1	10	98392731	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	576073	98392731	37142016	77	76979											
ATRNL1	26033	broad.mit.edu	37	chr10	117278774	117278774	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttattttgatttttcagaTtgcattctcacaacacaata	12	19	3	7	0	2	2	2	1	1	1	3	2	2	2	0	0	2	1	0	0	4	9			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:117278774T>A	ENST00000355044.3	+	25	3782	c.3654_splice	c.e25-1	p.I1219_splice	ATRNL1_ENST00000303745.7_Splice_Site_p.I12_splice|ATRNL1_ENST00000423111.2_Splice_Site_p.I270_splice	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1219						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATTTTTCAGATTGCATTCTCA	0.313													7	9					0	0	0	0	A	117278774	T	A	117278774	5	1	401	1	0	0	0	0	0	0	1	0	1211	1507	52	5	3754	5	ATRNL1	10	117278774	Splice_Site	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	18886043	117278774	18255973	78	76980											
ANO9	338440	broad.mit.edu	37	chr11	428530	428530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagccccggtcaccaccacgGccgtggtcacctgctcctcc	5	6	10	20	3	2	0	2	0	0	0	4	1	4	0	8	3	2	1	8	3	0	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:428530G>T	ENST00000332826.6	-	13	1214	c.1130C>A	c.(1129-1131)gCc>gAc	p.A377D		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	377						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACCACCACGGCCGTGGTCAC	0.677													7	100					0.00198382	0.00202481	1	0	T	428530	G	T	428530	3	4	401	1	0	0	0	0	1	0	0	0	703	1203	42	4	1262	4	ANO9	11	428530	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08		428530	134577986	79	76981											
OR51A7	119687	broad.mit.edu	37	chr11	4929490	4929490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactgtgtaaagactcgacaAatctgggagaagatcttggg	13	10	12	6	1	2	3	0	0	2	3	3	5	2	3	0	2	1	1	0	2	5	3	rs145385072		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:4929490A>G	ENST00000359350.4	+	1	891	c.891A>G	c.(889-891)caA>caG	p.Q297Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACTCGACAAATCTGGGAGA	0.408													8	90					0	0	0	0	G	4929490	A	G	4929490	2	3	401	1	0	0	0	0	0	0	0	1	11159	11	1	5		5	OR51A7	11	4929490	Silent	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	4500960	4929490	130077026	80	76982											
OR51I2	390064	broad.mit.edu	37	chr11	5474743	5474743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttgttcaatgtcactcacCctgcattcttcctcctgact	6	15	6	14	0	4	1	3	1	1	0	6	1	6	1	3	1	1	3	3	1	1	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:5474743C>G	ENST00000341449.2	+	1	106	c.25C>G	c.(25-27)Cct>Gct	p.P9A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCACTCACCCTGCATTCTT	0.507													6	68					0	0	0	0	G	5474743	C	G	5474743	3	3	401	1	0	0	0	0	1	0	0	0	11172	623	22	4	27	4	OR51I2	11	5474743	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	545253	5474743	129531773	81	76983											
SCUBE2	57758	broad.mit.edu	37	chr11	9077436	9077436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtggtcacaggtcctatCcaaagagcactcatccacat	11	9	8	13	0	2	1	2	0	0	1	5	1	5	1	3	2	1	2	3	2	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:9077436C>T	ENST00000457346.2	-	10	1185	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	SCUBE2_ENST00000309263.3_Missense_Mutation_p.D371N|SCUBE2_ENST00000520467.1_Missense_Mutation_p.D371N|SCUBE2_ENST00000450649.2_Missense_Mutation_p.D371N|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	371	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAGGTCCTATCCAAAGAGCAC	0.498													16	200					0	0	0	0	T	9077436	C	T	9077436	3	4	401	1	0	0	0	0	1	0	0	0	14032	855	30	2	2031	2	SCUBE2	11	9077436	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	3602693	9077436	125929080	82	76984											
AMPD3	272	broad.mit.edu	37	chr11	10500162	10500162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccccggcagccagtcCggccatgtctcccacaaccc	6	4	10	21	2	1	0	0	0	1	0	3	0	2	0	8	3	2	1	8	3	1	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:10500162C>T	ENST00000396554.3	+	3	679	c.338C>T	c.(337-339)cCg>cTg	p.P113L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	104					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCAGCCAGTCCGGCCATGTCT	0.592													34	324					0	0	0	0	T	10500162	C	T	10500162	3	4	401	1	0	0	0	0	1	0	0	0	587	652	23	1	368	1	AMPD3	11	10500162	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	1422726	10500162	124506354	83	76985											
OR5D18	219438	broad.mit.edu	37	chr11	55587459	55587459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcctttttattagctgtGatggcctatgaccgcttcgt	7	16	9	9	2	0	2	0	2	0	0	2	3	1	2	3	1	1	2	3	1	4	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:55587459G>A	ENST00000333976.4	+	1	374	c.354G>A	c.(352-354)gtG>gtA	p.V118V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	118			V -> M (in dbSNP:rs11231180).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TATTAGCTGTGATGGCCTATG	0.443													32	174					0	0	0	0	A	55587459	G	A	55587459	2	1	401	1	0	0	0	0	0	0	0	1	11228	1277	45	2		2	OR5D18	11	55587459	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	45087297	55587459	79419057	84	76986											
OR5M3	219482	broad.mit.edu	37	chr11	56237209	56237209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggacgtctgagatacatGaagatcagagtaccatagaa	15	8	12	6	1	2	5	1	2	1	4	2	7	2	6	1	1	2	1	1	1	5	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:56237209G>A	ENST00000312240.2	-	1	805	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F255L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGAGATACATGAAGATCAGAG	0.493													6	56					0	0	0	0	A	56237209	G	A	56237209	2	1	401	1	0	0	0	0	0	0	0	1	11246	1281	45	2		2	OR5M3	11	56237209	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	649750	56237209	78769307	85	76987											
FAM111B	374393	broad.mit.edu	37	chr11	58892339	58892339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atggaaaacagtccatggtgGatgaagtatctggaaaagtc	15	9	12	5	0	1	1	0	1	1	0	3	4	2	4	1	4	1	1	1	4	6	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:58892339G>C	ENST00000343597.3	+	4	960	c.769G>C	c.(769-771)Gat>Cat	p.D257H	FAM111B_ENST00000529618.1_Missense_Mutation_p.D227H|FAM111B_ENST00000411426.1_Missense_Mutation_p.D227H	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	257							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTCCATGGTGGATGAAGTATC	0.343													14	46					0	0	0	0	C	58892339	G	C	58892339	3	2	401	1	0	0	0	0	1	0	0	0	5441	1174	41	2	775	2	FAM111B	11	58892339	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	2655130	58892339	76114177	86	76988											
FADS3	3995	broad.mit.edu	37	chr11	61658681	61658681	+	Frame_Shift_Del	DEL	C	C	-																															ggtggccgatgaggcggctgCcccctgggtgccgctgtgcc																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:61658681delC	ENST00000540820.1	-	1	245	c.173delG	c.(172-174)gcfs	p.G58fs	FADS3_ENST00000525588.1_Frame_Shift_Del_p.G58fs|FADS3_ENST00000527697.1_Intron|FADS3_ENST00000278829.2_Frame_Shift_Del_p.G58fs|FADS3_ENST00000529525.1_5'UTR			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	58	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGCGGCTGCCCCCTGGGTG	0.706													2	4	---	---	---	---					-	61658681	C	-	61658681	7	5	401	1	0	1	0	1	0	0	0	0	5408	739	26	0	1212	0	FADS3	11	61658681	Frame_Shift_Del	DEL	C	TCGA-F7-A50J-01A-21D-A28R-08	2766342	61658681	73347835	87	76989											
AHNAK	79026	broad.mit.edu	37	chr11	62293071	62293071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactttccctctggtccttCaatgttaacatcagggcctt	8	14	6	13	0	3	0	2	0	1	0	5	0	5	0	3	2	2	1	3	2	3	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62293071C>G	ENST00000378024.4	-	5	9092	c.8818G>C	c.(8818-8820)Gaa>Caa	p.E2940Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2940					nervous system development	nucleus	protein binding			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)				TCTGGTCCTTCAATGTTAACA	0.502													56	268					0	0	0	0	G	62293071	C	G	62293071	3	3	401	1	0	0	0	0	1	0	0	0	414	835	29	2	8974	2	AHNAK	11	62293071	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	634390	62293071	72713445	88	76990											
EML3	256364	broad.mit.edu	37	chr11	62376895	62376895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgcggatgccagacGggatgtacatggtaatgggg	10	7	17	7	2	0	1	0	0	0	1	0	3	0	3	1	6	3	3	1	6	3	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62376895G>A	ENST00000394773.2	-	6	996	c.689C>T	c.(688-690)cCg>cTg	p.P230L	EML3_ENST00000531557.1_Missense_Mutation_p.P13L|EML3_ENST00000494176.2_Missense_Mutation_p.P202L|EML3_ENST00000529309.1_Missense_Mutation_p.P230L|EML3_ENST00000278845.4_Missense_Mutation_p.P231L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	230						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATGCCAGACGGGATGTACAT	0.582													38	176					0	0	0	0	A	62376895	G	A	62376895	3	1	401	1	0	0	0	0	1	0	0	0	5136	1116	39	1	2069	1	EML3	11	62376895	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	83824	62376895	72629621	89	76991											
TTC9C	283237	broad.mit.edu	37	chr11	62496334	62496350	+	Frame_Shift_Del	DEL	TGCAGGAGGCTCAGCTG	TGCAGGAGGCTCAGCTG	-																															gacagttatggagaagcgtcTgcaggaggctcagctgtaca																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62496334_62496350delTGCAGGAGGCTCAGCTG	ENST00000513247.2	+	2	665_681	c.413_429delTGCAGGAGGCTCAGCTG	c.(412-429)cfs	p.LQEAQL138fs	TTC9C_ENST00000532583.1_Frame_Shift_Del_p.LQEAQL5fs|TTC9C_ENST00000316461.4_Frame_Shift_Del_p.LQEAQL5fs			Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	5							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GAGAAGCGTCTGCAGGAGGCTCAGCTGTACAAGGAGG	0.562													9	70	---	---	---	---					-	62496350	TGCAGGAGGCTCAGCTG	-	62496334	7	5	401	1	0	1	0	1	0	0	0	0	16813	1580	55	0	16	0	TTC9C	11	62496334	Frame_Shift_Del	DEL	TGCAGGAGGCTCAGCTG	TCGA-F7-A50J-01A-21D-A28R-08	119439	62496334	72510182	90	76992											
CCDC88B	283234	broad.mit.edu	37	chr11	64109501	64109501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctggagcgagaacccctCtgcttgaggcctgaggctcc	6	8	13	14	1	1	3	0	2	1	1	2	5	2	4	4	3	4	3	4	3	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:64109501C>T	ENST00000356786.5	+	8	755	c.711C>T	c.(709-711)ctC>ctT	p.L237L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	237					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGAACCCCTCTGCTTGAGGC	0.652													4	40					0	0	0	0	T	64109501	C	T	64109501	2	4	401	1	0	0	0	0	0	0	0	1	2891	900	32	2		2	CCDC88B	11	64109501	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	1613167	64109501	70897015	91	76993											
FOSL1	8061	broad.mit.edu	37	chr11	65660431	65660431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctactcttgcgatGagctgaggcacaaggctcag	8	9	13	11	1	2	2	1	2	1	0	2	3	2	2	0	2	5	6	0	2	2	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:65660431G>T	ENST00000312562.2	-	4	928	c.742C>A	c.(742-744)Cat>Aat	p.H248N	FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.H212N|FOSL1_ENST00000448083.2_Missense_Mutation_p.H146N	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	248					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CTCTTGCGATGAGCTGAGGCA	0.612													12	82					5.50884e-06	5.74128e-06	1	0	T	65660431	G	T	65660431	3	4	401	1	0	0	0	0	1	0	0	0	6032	1290	45	2	77	2	FOSL1	11	65660431	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	1550930	65660431	69346085	92	76994											
ACTN3	89	broad.mit.edu	37	chr11	66322064	66322064	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagacagcaccgtaccGcaacgtcaacgtgcagaact	14	4	11	12	4	1	2	1	0	0	2	1	4	1	3	2	1	6	4	2	1	5	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:66322064G>A	ENST00000502692.1	+	0	772				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GCACCGTACCGCAACGTCAAC	0.587													6	24					0	0	0	0	A	66322064	G	A	66322064	1	1	401	0	1	0	0	0	0	0	0	0	206	1087	38	1		1	ACTN3	11	66322064	RNA	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	661633	66322064	68684452	93	76995											
RAD9A	5883	broad.mit.edu	37	chr11	67163752	67163752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcccgccatcttcaccatCaaggactctttgctggacgg	8	9	10	14	2	4	0	2	0	2	0	4	2	4	2	3	4	1	1	3	4	1	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:67163752C>G	ENST00000307980.2	+	9	846	c.753C>G	c.(751-753)atC>atG	p.I251M	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	251					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTTCACCATCAAGGACTCTT	0.637								Other conserved DNA damage response genes					24	289					0	0	0	0	G	67163752	C	G	67163752	3	3	401	1	0	0	0	0	1	0	0	0	13077	816	29	2	787	2	RAD9A	11	67163752	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	841688	67163752	67842764	94	76996											
CTTN	2017	broad.mit.edu	37	chr11	70263192	70263192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcgcggtgggcttcgaCtaccagggcaagacggagaa	12	4	16	9	4	0	3	0	0	0	3	1	5	0	3	1	4	2	2	1	4	4	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:70263192C>A	ENST00000346329.3	+	8	839	c.531C>A	c.(529-531)gaC>gaA	p.D177E	CTTN_ENST00000376561.3_Missense_Mutation_p.D177E|CTTN_ENST00000301843.8_Missense_Mutation_p.D177E	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	177						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGGGCTTCGACTACCAGGGCA	0.587													15	148					2.23348e-06	2.35757e-06	1	0	A	70263192	C	A	70263192	3	1	401	1	0	0	0	0	1	0	0	0	4076	564	20	4	553	4	CTTN	11	70263192	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	3099440	70263192	64743324	95	76997											
FAM181B	220382	broad.mit.edu	37	chr11	82444685	82444685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcccttgtccagggctccGaaggcgccccctagcccgtc	5	6	11	19	3	0	0	0	0	0	0	3	1	2	0	6	2	2	1	6	2	2	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:82444685G>A	ENST00000329203.3	-	1	221	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	29										large_intestine(1)|lung(2)|prostate(1)	4						CCAGGGCTCCGAAGGCGCCCC	0.736													6	17					0	0	0	0	A	82444685	G	A	82444685	2	1	401	1	0	0	0	0	0	0	0	1	5551	1049	37	1		1	FAM181B	11	82444685	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	12181493	82444685	52561831	96	76998											
ALG9	79796	broad.mit.edu	37	chr11	111749772	111749772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcaggtggcggtaagttGagtgctctgatccagggttt	7	11	17	6	1	1	2	0	2	1	0	2	3	2	2	1	5	1	5	1	5	1	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:111749772G>C	ENST00000524880.1	-	1	377	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E	FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q29E			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	329					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCGGTAAGTTGAGTGCTCTGA	0.672											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	36					0	0	0	0	C	111749772	G	C	111749772	3	2	401	1	0	0	0	0	1	0	0	0	524	1299	45	2		2	ALG9	11	111749772	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	29305087	111749772	23256744	97	76999											
ALG9	79796	broad.mit.edu	37	chr11	111749847	111749847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccaaccaacaggaggcgccGaggggccatggcctccacgg	9	2	14	16	3	0	0	0	0	0	0	1	2	1	1	6	6	2	0	6	6	2	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:111749847G>C	ENST00000524880.1	-	1	302	c.10C>G	c.(10-12)Cgg>Ggg	p.R4G	C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.R4G			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGGAGGCGCCGAGGGGCCATG	0.637											OREG0010943|OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	4	60					0	0	0	0	C	111749847	G	C	111749847	3	2	401	1	0	0	0	0	1	0	0	0	524	1057	37	3		3	ALG9	11	111749847	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	75	111749847	23256669	98	77000											
ABCG4	64137	broad.mit.edu	37	chr11	119020845	119020845	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcccacctacccaagcgctCagccgtggacatcgagttcg	8	7	9	17	4	1	0	1	0	0	0	4	2	2	1	4	1	3	2	4	1	2	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:119020845C>G	ENST00000307417.3	+	2	534	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ABCG4_ENST00000449422.2_Nonsense_Mutation_p.S57*|ABCG4_ENST00000531739.1_Nonsense_Mutation_p.S57*	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	57					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCAAGCGCTCAGCCGTGGAC	0.642													11	128					0	0	0	0	G	119020845	C	G	119020845	4	3	401	1	0	0	0	0	0	1	0	0	70	838	29	2	172	2	ABCG4	11	119020845	Nonsense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	7270998	119020845	15985671	99	77001											
TECTA	7007	broad.mit.edu	37	chr11	120989412	120989412	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctcatccccaaaggaagCtatggaagagtcaaggtgag	14	8	11	8	0	2	2	2	1	1	1	4	4	3	4	2	3	1	1	2	3	5	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:120989412C>T	ENST00000392793.1	+	7	1459	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	TECTA_ENST00000264037.2_Silent_p.S396S			O75443	TECTA_HUMAN	tectorin alpha	396	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCAAAGGAAGCTATGGAAGAG	0.522													23	77					0	0	0	0	T	120989412	C	T	120989412	2	4	401	1	0	0	0	0	0	0	0	1	15841	796	28	4		4	TECTA	11	120989412	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	1968567	120989412	14017104	100	77002											
OR4D5	219875	broad.mit.edu	37	chr11	123811135	123811135	+	Missense_Mutation	SNP	T	T	A																															attccccatggacaaggccgTctctgtgctatacacaattg																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:123811135T>A	ENST00000307033.2	+	1	886	c.812T>A	c.(811-813)gTc>gAc	p.V271D		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GACAAGGCCGTCTCTGTGCTA	0.493													20	128					0	0	0	0	A	123811135	T	A	123811135	3	1	401	1	0	0	0	0	1	0	0	0	11128	1667	58	5	814	5	OR4D5	11	123811135	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	2821723	123811135	11195381	101	77003	1029	2									
OR4D5	219875	broad.mit.edu	37	chr11	123811145	123811145	+	Silent	SNP	A	A	G																															gacaaggccgtctctgtgctAtacacaattgtcacccccat																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:123811145A>G	ENST00000307033.2	+	1	896	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTCTGTGCTATACACAATTG	0.488													16	131					0	0	0	0	G	123811145	A	G	123811145	2	3	401	1	0	0	0	0	0	0	0	1	11128	436	16	5		5	OR4D5	11	123811145	Silent	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	10	123811145	11195371	102	77004	1029	2									
SLCO1B3	28234	broad.mit.edu	37	chr12	21015380	21015380	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtcacacatgtggatCtatgtcttcatggggaatat	9	14	11	7	0	5	0	2	0	3	0	5	2	5	2	0	4	0	0	0	4	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:21015380C>A	ENST00000381545.3	+	7	735	c.516C>A	c.(514-516)atC>atA	p.I172I	LST3_ENST00000540229.1_Silent_p.I172I|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.I172I|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.I172I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	172					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACATGTGGATCTATGTCTTCA	0.358													11	73					0.0167234	0.0168599	1	0	A	21015380	C	A	21015380	2	1	401	1	0	0	0	0	0	0	0	1	14812	903	32	2		2	SLCO1B3	12	21015380	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		21015380	112836515	103	77005											
DDX11	1663	broad.mit.edu	37	chr12	31256665	31256665	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattgctgctgtgcagaaGgtcagtcctacctttttctt	6	15	9	11	0	2	1	1	0	1	1	3	1	3	1	3	1	4	3	3	1	2	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:31256665G>A	ENST00000407793.2	+	26	2937	c.2686_splice	c.e26+1	p.V896_splice	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Splice_Site_p.K871_splice|DDX11_ENST00000350437.4_Splice_Site_p.K847_splice|DDX11_ENST00000545668.1_Splice_Site_p.V896_splice|DDX11_ENST00000542838.1_Splice_Site_p.K897_splice	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	896					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGTGCAGAAGGTCAGTCCTA	0.597										Multiple Myeloma(12;0.14)			39	108					0	0	0	0	A	31256665	G	A	31256665	5	1	401	1	0	0	0	0	0	0	1	0	4375	1014	35	4	2789	4	DDX11	12	31256665	Splice_Site	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	10241285	31256665	102595230	104	77006											
FGD4	121512	broad.mit.edu	37	chr12	32777928	32777928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcccttcaagaaaccatcGatgcttttcatcaaaggcat	13	10	7	11	1	3	1	3	0	0	1	4	2	3	1	2	2	2	2	2	2	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:32777928G>A	ENST00000427716.2	+	13	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	FGD4_ENST00000531134.1_Missense_Mutation_p.D606N|FGD4_ENST00000546442.1_Missense_Mutation_p.D428N|FGD4_ENST00000525053.1_Missense_Mutation_p.D633N|FGD4_ENST00000266482.3_Missense_Mutation_p.D273N|FGD4_ENST00000534526.2_Missense_Mutation_p.D658N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	521	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGAAACCATCGATGCTTTTCA	0.308													11	89					0	0	0	0	A	32777928	G	A	32777928	3	1	401	1	0	0	0	0	1	0	0	0	5880	1058	37	1	1603	1	FGD4	12	32777928	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	1521263	32777928	101073967	105	77007											
CPNE8	144402	broad.mit.edu	37	chr12	39268294	39268294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcagatttagaaaatgTgtctctgtcaagaagatttc	13	14	9	5	0	3	4	2	0	1	4	5	5	3	5	0	1	0	0	0	1	5	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:39268294T>C	ENST00000331366.5	-	2	214	c.118A>G	c.(118-120)Aca>Gca	p.T40A	CPNE8_ENST00000360449.3_Missense_Mutation_p.T28A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	40	C2 1.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTAGAAAATGTGTCTCTGTCA	0.264													9	31					0	0	0	0	C	39268294	T	C	39268294	3	2	401	1	0	0	0	0	1	0	0	0	3848	1696	59	5	1652	5	CPNE8	12	39268294	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	6490366	39268294	94583601	106	77008											
LRP1	4035	broad.mit.edu	37	chr12	57553625	57553625	+	Missense_Mutation	SNP	G	G	A																															caggcatccacaatgtggagGgtgtggccgtggactggatg																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57553625G>A	ENST00000243077.3	+	12	2282	c.1816G>A	c.(1816-1818)Ggt>Agt	p.G606S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	606					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAATGTGGAGGGTGTGGCCGT	0.577													25	85					0	0	0	0	A	57553625	G	A	57553625	3	1	401	1	0	0	0	0	1	0	0	0	9015	1232	43	4	1862	4	LRP1	12	57553625	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	18285331	57553625	76298270	107	77009	1030	2									
LRP1	4035	broad.mit.edu	37	chr12	57553626	57553626	+	Missense_Mutation	SNP	G	G	T																															aggcatccacaatgtggaggGtgtggccgtggactggatgg																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57553626G>T	ENST00000243077.3	+	12	2283	c.1817G>T	c.(1816-1818)gGt>gTt	p.G606V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	606					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AATGTGGAGGGTGTGGCCGTG	0.582													25	84					3.65163e-15	4.00868e-15	1	0	T	57553626	G	T	57553626	3	4	401	1	0	0	0	0	1	0	0	0	9015	1261	44	4	1863	4	LRP1	12	57553626	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	1	57553626	76298269	108	77010	1030	2									
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagttcgtgtgccactGggggggctgctccagggagc	6	7	19	9	1	0	0	0	0	0	0	2	3	1	2	2	5	3	3	2	5	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57860075G>T	ENST00000228682.2	+	8	906	c.815G>T	c.(814-816)tGg>tTg	p.W272L	GLI1_ENST00000543426.1_Missense_Mutation_p.W144L|GLI1_ENST00000546141.1_Missense_Mutation_p.W231L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTGCCACTGGGGGGGCTGC	0.597													38	244					5.04308e-16	5.5609e-16	1	0	T	57860075	G	T	57860075	3	4	401	1	0	0	0	0	1	0	0	0	6488	1357	47	4	841	4	GLI1	12	57860075	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	306449	57860075	75991820	109	77011											
SCYL2	55681	broad.mit.edu	37	chr12	100709390	100709390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagaatttgtaaaccctGacatggtaccttttgttttg	9	17	7	8	0	1	2	1	1	0	1	1	2	1	2	2	1	2	3	2	1	4	8			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:100709390G>A	ENST00000360820.2	+	9	1587	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	384					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTAAACCCTGACATGGTACC	0.328													7	68					0	0	0	0	A	100709390	G	A	100709390	3	1	401	1	0	0	0	0	1	0	0	0	14035	1290	45	2	1180	2	SCYL2	12	100709390	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	42849315	100709390	33142505	110	77012											
TRPV4	59341	broad.mit.edu	37	chr12	110226428	110226428	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgaaggtctcgctgTcacggcacgaggggtaagtg	8	8	17	8	3	2	1	1	1	1	0	3	2	2	1	0	5	1	4	0	5	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:110226428T>A	ENST00000418703.2	-	12	2079	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	TRPV4_ENST00000541794.1_Missense_Mutation_p.D615V|TRPV4_ENST00000536838.1_Missense_Mutation_p.D628V|TRPV4_ENST00000544971.1_Missense_Mutation_p.D555V|TRPV4_ENST00000537083.1_Missense_Mutation_p.D602V|TRPV4_ENST00000346520.2_Missense_Mutation_p.D602V|TRPV4_ENST00000392719.2_Missense_Mutation_p.D615V|TRPV4_ENST00000261740.2_Missense_Mutation_p.D662V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	662					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGTCTCGCTGTCACGGCACGA	0.597													17	179					0	0	0	0	A	110226428	T	A	110226428	3	1	401	1	0	0	0	0	1	0	0	0	16693	1667	58	5	646	5	TRPV4	12	110226428	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	9517038	110226428	23625467	111	77013											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123694622	123694622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtttggtgacacatctGtggaagacaatgatatgaac	12	11	11	7	0	1	4	0	3	1	1	1	5	1	5	1	3	1	1	1	3	4	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:123694622G>T	ENST00000606320.1	-	8	1381	c.1175C>A	c.(1174-1176)aCa>aAa	p.T392K	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.T362K|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.T240K|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.T240K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	240					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGACACATCTGTGGAAGACAA	0.493													19	62					6.94344e-10	7.48922e-10	1	0	T	123694622	G	T	123694622	3	4	401	1	0	0	0	0	1	0	0	0	9798	1377	48	4	2444	4	MPHOSPH9	12	123694622	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	13468194	123694622	10157273	112	77014											
SACS	26278	broad.mit.edu	37	chr13	23912107	23912107	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagttctttcccttttcCatgagctatatcttcataaa	9	17	5	10	0	4	1	2	1	2	0	6	1	6	1	2	1	1	2	2	1	4	8			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:23912107C>A	ENST00000382298.3	-	10	6496	c.5908G>T	c.(5908-5910)Gga>Tga	p.G1970*	SACS_ENST00000402364.1_Nonsense_Mutation_p.G1220*|SACS_ENST00000382292.3_Nonsense_Mutation_p.G1970*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1970					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCCCTTTTCCATGAGCTATA	0.358													3	42					1	1	1	0	A	23912107	C	A	23912107	4	1	401	1	0	0	0	0	0	1	0	0	13889	603	21	4	7835	4	SACS	13	23912107	Nonsense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		23912107	91257771	113	77015											
SOHLH2	54937	broad.mit.edu	37	chr13	36776120	36776120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagcgctgctgcctccttCgtgtcactgatggtgatggt	7	12	12	10	2	1	2	1	2	0	0	3	2	2	2	2	2	3	2	2	2	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:36776120C>T	ENST00000379881.3	-	2	247	c.159G>A	c.(157-159)acG>acA	p.T53T	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.T130T|SOHLH2_ENST00000317764.6_Silent_p.T53T|SOHLH2_ENST00000554962.1_Silent_p.T130T	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CTGCCTCCTTCGTGTCACTGA	0.453													10	79					0	0	0	0	T	36776120	C	T	36776120	2	4	401	1	0	0	0	0	0	0	0	1	15012	871	31	1		1	SOHLH2	13	36776120	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	12864013	36776120	78393758	114	77016											
NUFIP1	26747	broad.mit.edu	37	chr13	45533706	45533706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctggacatccccttcatCttgctggagtaagaaaattg	10	13	9	9	0	3	1	1	0	2	1	4	3	4	3	2	2	1	2	2	2	3	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:45533706C>G	ENST00000379161.4	-	7	877	c.831G>C	c.(829-831)aaG>aaC	p.K277N		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	277					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCCCCTTCATCTTGCTGGAGT	0.368													14	104					0	0	0	0	G	45533706	C	G	45533706	3	3	401	1	0	0	0	0	1	0	0	0	10819	912	32	2	672	2	NUFIP1	13	45533706	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	8757586	45533706	69636172	115	77017											
RB1	5925	broad.mit.edu	37	chr13	48936965	48936965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttacagaaacagctgttataCccattaatggttcacctcga	13	12	6	10	1	1	1	1	0	0	1	2	2	1	1	2	1	4	3	2	1	5	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:48936965C>G	ENST00000267163.4	+	8	871	c.733C>G	c.(733-735)Ccc>Gcc	p.P245A		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	245					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.?(6)		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)	AGCTGTTATACCCATTAATGG	0.343		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)			6	58					0	0	0	0	G	48936965	C	G	48936965	3	3	401	1	0	0	0	0	1	0	0	0	13180	507	18	4	763	4	RB1	13	48936965	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	3403259	48936965	66232913	116	77018											
SLITRK5	26050	broad.mit.edu	37	chr13	88327663	88327663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcacacttgctgcccccCagtaactttggaacaggacc	11	8	8	14	0	0	0	0	0	0	0	0	2	0	2	4	2	5	3	4	2	3	3	rs141503904		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:88327663C>A	ENST00000325089.6	+	2	239	c.20C>A	c.(19-21)cCa>cAa	p.P7Q	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	7						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCTGCCCCCCAGTAACTTTG	0.438													10	84					1.58986e-06	1.68539e-06	1	0	A	88327663	C	A	88327663	3	1	401	1	0	0	0	0	1	0	0	0	14834	594	21	4	22	4	SLITRK5	13	88327663	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	39390698	88327663	26842215	117	77019											
COL4A1	1282	broad.mit.edu	37	chr13	110831646	110831646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgaagcccagggggtccGatcgctccatgttctccagg	6	8	12	15	2	1	1	0	1	1	0	5	2	3	1	5	3	1	2	5	3	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:110831646G>A	ENST00000375820.4	-	30	2437	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	772	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGTCCGATCGCTCCAT	0.577													41	115					0	0	0	0	A	110831646	G	A	110831646	2	1	401	1	0	0	0	0	0	0	0	1	3719	1048	37	1		1	COL4A1	13	110831646	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	22503983	110831646	4338232	118	77020											
OR4N5	390437	broad.mit.edu	37	chr14	20612782	20612782	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaaccaggaggtgaaagcTtccatgaggaagttgttaag	13	8	13	7	1	0	2	0	2	0	0	1	4	1	4	2	3	2	4	2	3	4	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:20612782T>A	ENST00000333629.1	+	1	888	c.888T>A	c.(886-888)gcT>gcA	p.A296A		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AGGTGAAAGCTTCCATGAGGA	0.393													8	86					0	0	0	0	A	20612782	T	A	20612782	2	1	401	1	0	0	0	0	0	0	0	1	11150	1596	56	5		5	OR4N5	14	20612782	Silent	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08		20612782	86736758	119	77021											
PSMA6	5687	broad.mit.edu	37	chr14	35778161	35778161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtgactcacttattcaaGataactgaaaacattggttg	15	12	7	7	0	2	3	2	2	0	1	2	3	2	3	0	1	2	1	0	1	5	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:35778161G>A	ENST00000261479.4	+	3	333	c.213G>A	c.(211-213)aaG>aaA	p.K71K	PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000540871.1_Silent_p.K52K|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Silent_p.K71K|PSMA6_ENST00000553809.1_Silent_p.K71K	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	71					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			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)		ACTTATTCAAGATAACTGAAA	0.299													6	86					0	0	0	0	A	35778161	G	A	35778161	2	1	401	1	0	0	0	0	0	0	0	1	12750	933	33	2		2	PSMA6	14	35778161	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	15165379	35778161	71571379	120	77022											
MDGA2	161357	broad.mit.edu	37	chr14	47426585	47426585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaatcctacctgtaacaAgaaagctgcatctcccagct	12	9	7	13	0	1	1	0	0	1	1	3	2	2	2	3	1	5	4	3	1	5	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:47426585A>G	ENST00000426342.1	-	9	1933	c.1187T>C	c.(1186-1188)cTt>cCt	p.L396P	MDGA2_ENST00000357362.3_Missense_Mutation_p.L396P|MDGA2_ENST00000439988.2_Missense_Mutation_p.L625P|MDGA2_ENST00000399232.2_Missense_Mutation_p.L694P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	625	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACCTGTAACAAGAAAGCTGCA	0.343													3	38					0	0	0	0	G	47426585	A	G	47426585	3	3	401	1	0	0	0	0	1	0	0	0	9476	72	3	5	1032	5	MDGA2	14	47426585	Missense_Mutation	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	11648424	47426585	59922955	121	77023											
TRIM9	114088	broad.mit.edu	37	chr14	51561606	51561606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaggatgatgggctcccGatagaaggagccgcacacgg	10	4	17	10	3	0	2	0	1	0	1	1	5	1	4	2	5	1	3	2	5	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:51561606G>A	ENST00000298355.3	-	1	1173	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	TRIM9_ENST00000338969.5_Missense_Mutation_p.R18W|TRIM9_ENST00000360392.4_Missense_Mutation_p.R18W	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	18					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ATGGGCTCCCGATAGAAGGAG	0.627													4	31					0	0	0	0	A	51561606	G	A	51561606	3	1	401	1	0	0	0	0	1	0	0	0	16644	1057	37	1	2170	1	TRIM9	14	51561606	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	4135021	51561606	55787934	122	77024											
TMED8	283578	broad.mit.edu	37	chr14	77818038	77818038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggggtgaggagcagggttCtggatcggtggcagaagcca	8	7	20	6	1	1	2	0	1	1	1	2	4	1	4	1	7	2	3	1	7	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:77818038C>T	ENST00000216468.7	-	2	230	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	59					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGCAGGGTTCTGGATCGGTG	0.408													16	96					0	0	0	0	T	77818038	C	T	77818038	3	4	401	1	0	0	0	0	1	0	0	0	16105	922	32	2	821	2	TMED8	14	77818038	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	26256432	77818038	29531502	123	77025											
PTPN21	11099	broad.mit.edu	37	chr14	88945893	88945893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgcagctgcgcgtggcGcgcggcggtgaggggctcgc	2	8	20	11	7	0	1	0	1	0	0	1	1	0	1	0	5	3	3	0	5	0	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:88945893G>A	ENST00000556564.1	-	13	2166	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	PTPN21_ENST00000328736.3_Missense_Mutation_p.R628C	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	628						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCGCGTGGCGCGCGGCGGTG	0.711													17	44					0	0	0	0	A	88945893	G	A	88945893	3	1	401	1	0	0	0	0	1	0	0	0	12868	1087	38	1	1670	1	PTPN21	14	88945893	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	11127855	88945893	18403647	124	77026											
OTUD7A	161725	broad.mit.edu	37	chr15	31818596	31818596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagtgtgtgcgcggctcGctggaggccagcttcagcag	6	8	16	11	3	1	1	1	1	0	0	2	2	1	2	1	3	3	4	1	3	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:31818596G>A	ENST00000382902.1	-	6	941	c.849C>T	c.(847-849)agC>agT	p.S283S	OTUD7A_ENST00000307050.4_Silent_p.S276S			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	276	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGCGCGGCTCGCTGGAGGCCA	0.677													4	9					0	0	0	0	A	31818596	G	A	31818596	2	1	401	1	0	0	0	0	0	0	0	1	11389	1078	38	1		1	OTUD7A	15	31818596	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08		31818596	70712796	125	77027											
SPG11	80208	broad.mit.edu	37	chr15	44951326	44951326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaattcctctgcagagctgCgtgtcaataatcatgtccac	11	11	8	11	1	3	2	2	0	1	2	5	2	5	2	2	0	3	2	2	0	3	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:44951326C>T	ENST00000261866.7	-	3	634	c.618G>A	c.(616-618)acG>acA	p.T206T	SPG11_ENST00000558319.1_Silent_p.T206T|SPG11_ENST00000535302.2_Silent_p.T206T|SPG11_ENST00000559193.1_Silent_p.T206T|SPG11_ENST00000427534.2_Silent_p.T206T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	206					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGCAGAGCTGCGTGTCAATAA	0.418													19	98					0	0	0	0	T	44951326	C	T	44951326	2	4	401	1	0	0	0	0	0	0	0	1	15131	755	27	1		1	SPG11	15	44951326	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	13132730	44951326	57580066	126	77028											
RORA	6095	broad.mit.edu	37	chr15	60789691	60789691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggctcaaattctgaaGtgaacaactccttgtataat	12	14	7	8	0	2	2	1	2	1	0	3	2	3	2	1	1	3	3	1	1	6	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:60789691G>C	ENST00000335670.6	-	11	1635	c.1535C>G	c.(1534-1536)aCt>aGt	p.T512S	RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.T457S|RORA_ENST00000309157.4_Missense_Mutation_p.T537S|RORA_ENST00000261523.5_Missense_Mutation_p.T545S|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	545	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AAATTCTGAAGTGAACAACTC	0.358													3	37					0	0	0	0	C	60789691	G	C	60789691	3	2	401	1	0	0	0	0	1	0	0	0	13613	1029	36	4	40	4	RORA	15	60789691	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	15838365	60789691	41741701	127	77029											
DAPK2	23604	broad.mit.edu	37	chr15	64231510	64231510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagaccaaagtcaatcagCttgatgtgtggaatgggaat	13	9	12	7	0	2	2	2	1	0	1	2	4	2	4	2	2	1	1	2	2	4	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:64231510C>T	ENST00000261891.3	-	4	509	c.504G>A	c.(502-504)aaG>aaA	p.K168K	DAPK2_ENST00000457488.1_Silent_p.K168K|DAPK2_ENST00000558069.1_Silent_p.K168K|DAPK2_ENST00000558482.1_5'UTR			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	168	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGTCAATCAGCTTGATGTGTG	0.358													12	45					0	0	0	0	T	64231510	C	T	64231510	2	4	401	1	0	0	0	0	0	0	0	1	4269	796	28	4		4	DAPK2	15	64231510	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	3441819	64231510	38299882	128	77030											
UBE2Q2	92912	broad.mit.edu	37	chr15	76183295	76183295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactcaatagaatcggtcatCatgcaaataaatgccacctt	15	11	5	10	1	3	1	3	0	0	1	4	1	3	1	2	1	3	1	2	1	7	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:76183295C>T	ENST00000267938.4	+	11	1351	c.969C>T	c.(967-969)atC>atT	p.I323I	UBE2Q2_ENST00000338677.4_Intron|UBE2Q2_ENST00000569423.1_Silent_p.I288I|UBE2Q2_ENST00000561851.1_Silent_p.I307I	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	323					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AATCGGTCATCATGCAAATAA	0.388													9	57					0	0	0	0	T	76183295	C	T	76183295	2	4	401	1	0	0	0	0	0	0	0	1	16966	816	29	2		2	UBE2Q2	15	76183295	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	11951785	76183295	26348097	129	77031											
SCAPER	49855	broad.mit.edu	37	chr15	77092692	77092692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcttctttacttcccatgCcaatgatgttggtctgcgaa	8	15	7	11	1	3	1	0	1	3	0	4	2	4	1	2	1	3	1	2	1	3	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:77092692C>T	ENST00000563290.1	-	7	603	c.508G>A	c.(508-510)Gca>Aca	p.A170T	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.A170T			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	169						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTTCCCATGCCAATGATGTT	0.363													3	30					0	0	0	0	T	77092692	C	T	77092692	3	4	401	1	0	0	0	0	1	0	0	0	13964	739	26	4	3836	4	SCAPER	15	77092692	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	909397	77092692	25438700	130	77032											
TMED3	23423	broad.mit.edu	37	chr15	79606257	79606257	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaatgagttttccaccttCtctcacaagaccgtctactt	10	14	5	12	1	3	2	1	1	2	1	5	2	4	2	3	0	1	2	3	0	3	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:79606257C>G	ENST00000299705.5	+	2	515	c.327C>G	c.(325-327)ttC>ttG	p.F109L	TMED3_ENST00000536821.1_Missense_Mutation_p.F109L|TMED3_ENST00000424155.2_Missense_Mutation_p.F109L	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	109	GOLD.				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						TTTCCACCTTCTCTCACAAGA	0.502													21	86					0	0	0	0	G	79606257	C	G	79606257	3	3	401	1	0	0	0	0	1	0	0	0	16099	912	32	2	333	2	TMED3	15	79606257	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	2513565	79606257	22925135	131	77033											
CHD2	1106	broad.mit.edu	37	chr15	93547975	93547975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctggaccaggagacattCagcatagtaagtcttgaaat	14	10	10	7	0	3	2	1	1	2	1	3	5	3	3	1	2	1	2	1	2	3	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:93547975C>T	ENST00000394196.4	+	34	5475	c.4407C>T	c.(4405-4407)ttC>ttT	p.F1469F	CHD2_ENST00000557381.1_Silent_p.F1469F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1469					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGGAGACATTCAGCATAGTAA	0.512													36	69					0	0	0	0	T	93547975	C	T	93547975	2	4	401	1	0	0	0	0	0	0	0	1	3354	825	29	2		2	CHD2	15	93547975	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	13941718	93547975	8983417	132	77034											
POLR3E	55718	broad.mit.edu	37	chr16	22337506	22337506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaatctgcacttggccagCctgccccccggccacacact	7	8	7	19	1	2	0	1	0	1	0	2	0	2	0	6	2	3	1	6	2	1	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:22337506C>G	ENST00000299853.5	+	18	1940	c.1773C>G	c.(1771-1773)agC>agG	p.S591R	POLR3E_ENST00000359210.4_Missense_Mutation_p.S591R|POLR3E_ENST00000418581.2_Missense_Mutation_p.S555R|POLR3E_ENST00000564209.1_Missense_Mutation_p.S591R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	591					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACTTGGCCAGCCTGCCCCCCG	0.602													7	38					0	0	0	0	G	22337506	C	G	22337506	3	3	401	1	0	0	0	0	1	0	0	0	12304	738	26	4	1839	4	POLR3E	16	22337506	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		22337506	68017247	133	77035											
TAOK2	9344	broad.mit.edu	37	chr16	29998227	29998227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgggggaaggaggatgaGagtcttctggatgaggagtt	9	11	19	2	0	2	2	0	2	2	1	2	8	2	7	0	6	0	1	0	6	1	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:29998227G>A	ENST00000308893.4	+	16	3677	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.E765E|TAOK2_ENST00000416441.2_Silent_p.E705E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	878	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGGAGGATGAGAGTCTTCTGG	0.597													10	52					0	0	0	0	A	29998227	G	A	29998227	2	1	401	1	0	0	0	0	0	0	0	1	15639	933	33	2		2	TAOK2	16	29998227	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	7660721	29998227	60356526	134	77036											
ZNF423	23090	broad.mit.edu	37	chr16	49669771	49669771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtccgttggcgctgcGggccatgcagccggcgcaga	5	6	15	15	5	0	1	0	0	0	1	1	1	1	1	4	3	3	4	4	3	0	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:49669771G>A	ENST00000561648.1	-	4	3345	c.3292C>T	c.(3292-3294)Cgc>Tgc	p.R1098C	ZNF423_ENST00000562520.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R981C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R981C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1098C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1038C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1098					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGGCGCTGCGGGCCATGCAG	0.692													5	48					0	0	0	0	A	49669771	G	A	49669771	3	1	401	1	0	0	0	0	1	0	0	0	17993	1116	39	1	582	1	ZNF423	16	49669771	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	19671544	49669771	40684982	135	77037											
CDH11	1009	broad.mit.edu	37	chr16	65016096	65016096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctactgagatcttgaCggtcacagtgtccttgaaag	10	13	9	9	1	4	3	1	3	3	1	5	4	5	3	1	1	1	0	1	1	2	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:65016096C>T	ENST00000394156.3	-	8	1561	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	CDH11_ENST00000268603.4_Missense_Mutation_p.V370I|CDH11_ENST00000566827.1_Missense_Mutation_p.V244I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	370	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAGATCTTGACGGTCACAGTG	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			15	95					0	0	0	0	T	65016096	C	T	65016096	3	4	401	1	0	0	0	0	1	0	0	0	3126	536	19	1	1306	1	CDH11	16	65016096	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	15346325	65016096	25338657	136	77038											
NRN1L	123904	broad.mit.edu	37	chr16	67919692	67919692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaccatataccagggcttCgccgagtgtctcatccgctt	8	10	9	14	3	1	0	1	0	1	0	4	2	2	0	4	1	1	2	4	1	2	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:67919692C>T	ENST00000339176.3	+	2	246	c.147C>T	c.(145-147)ttC>ttT	p.F49F	NRN1L_ENST00000576147.1_5'UTR|CTC-479C5.10_ENST00000572067.1_RNA	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	49						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		ACCAGGGCTTCGCCGAGTGTC	0.652													17	89					0	0	0	0	T	67919692	C	T	67919692	2	4	401	1	0	0	0	0	0	0	0	1	10730	883	31	1		1	NRN1L	16	67919692	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	2903596	67919692	22435061	137	77039											
NFAT5	10725	broad.mit.edu	37	chr16	69725771	69725771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaaaatgaaaaacagcaGcagattcagcccaaggcata	18	6	8	9	0	2	3	1	2	1	1	2	3	2	3	1	1	4	3	1	1	6	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:69725771G>A	ENST00000349945.1	+	14	3313	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q	NFAT5_ENST00000432919.1_Silent_p.Q681Q|NFAT5_ENST00000393742.2_Silent_p.Q587Q|NFAT5_ENST00000566899.1_Silent_p.Q587Q|NFAT5_ENST00000567239.1_Silent_p.Q680Q|NFAT5_ENST00000354436.2_Silent_p.Q663Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	663					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAAAACAGCAGCAGATTCAGC	0.438													9	95					0	0	0	0	A	69725771	G	A	69725771	2	1	401	1	0	0	0	0	0	0	0	1	10430	962	34	4		4	NFAT5	16	69725771	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	1806079	69725771	20628982	138	77040											
CMIP	80790	broad.mit.edu	37	chr16	81712170	81712170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcctgcagcaccatgaGcatcgagctgggcccccagg	7	4	12	18	2	0	1	0	1	0	0	1	2	0	1	6	2	4	4	6	2	0	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:81712170G>C	ENST00000537098.3	+	10	1397	c.1325G>C	c.(1324-1326)aGc>aCc	p.S442T	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.S289T|CMIP_ENST00000539778.2_Missense_Mutation_p.S348T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	408						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						AGCACCATGAGCATCGAGCTG	0.711													4	21					0	0	0	0	C	81712170	G	C	81712170	3	2	401	1	0	0	0	0	1	0	0	0	3608	971	34	4	1385	4	CMIP	16	81712170	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	11986399	81712170	8642583	139	77041											
CDK10	8558	broad.mit.edu	37	chr16	89755672	89755672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagctgggacgatgcCggagtgtgaaggagtttgag	8	11	17	5	2	1	2	1	2	0	0	1	6	1	5	1	3	2	3	1	3	1	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:89755672C>T	ENST00000353379.7	+	2	143	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Intron	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	34					negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGACGATGCCGGAGTGTGAA	0.527													13	64					0	0	0	0	T	89755672	C	T	89755672	3	4	401	1	0	0	0	0	1	0	0	0	3154	643	23	1	106	1	CDK10	16	89755672	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	8043502	89755672	599081	140	77042											
DNAH9	1770	broad.mit.edu	37	chr17	11502116	11502117	+	Frame_Shift_Ins	INS	-	-	T																															cctggctggcgctaaggcgcINStttttttccttcgcaccggg																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:11502116_11502117insT	ENST00000262442.3	+	1	369_370	c.301_302insT	c.(301-303)tttfs	p.F101fs	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.F101fs|DNAH9_ENST00000579828.1_Frame_Shift_Ins_p.F101fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	101	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTAAGGCGCTTTTTTTCCTT	0.743													2	4	---	---	---	---					T	11502117	-	T	11502116	7	5	401	1	0	1	1	0	0	0	0	0	4644	797	28	0	303	0	DNAH9	17	11502116	Frame_Shift_Ins	INS	-	TCGA-F7-A50J-01A-21D-A28R-08		11502116	69693094	141	77043											
CCDC144A	9720	broad.mit.edu	37	chr17	16593777	16593777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccgaagccggcagtctaCgccacgaggaagacccctag	10	5	11	15	4	2	1	0	0	2	1	3	4	2	2	5	2	2	1	5	2	4	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:16593777C>T	ENST00000443444.2	+	1	203	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667													8	31					0	0	0	0	T	16593777	C	T	16593777	2	4	401	1	0	0	0	0	0	0	0	1	2802	547	19	1		1	CCDC144A	17	16593777	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	5091661	16593777	64601433	142	77044											
ATAD5	79915	broad.mit.edu	37	chr17	29161710	29161710	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaaaaatgacttcaaaaAgttgagaaaaaggaaatgca	23	6	7	5	0	1	2	1	2	0	1	1	4	1	3	0	1	1	2	0	1	8	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:29161710A>C	ENST00000321990.4	+	2	989	c.611A>C	c.(610-612)aAg>aCg	p.K204T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	204					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GACTTCAAAAAGTTGAGAAAA	0.323													5	100					0	0	0	0	C	29161710	A	C	29161710	3	2	401	1	0	0	0	0	1	0	0	0	1080	72	3	5	617	5	ATAD5	17	29161710	Missense_Mutation	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	12567933	29161710	52033500	143	77045											
ACACA	31	broad.mit.edu	37	chr17	35641860	35641860	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttactaggtgcaagccaGacatgctggacctataaaaa	14	9	9	9	0	0	1	0	0	0	1	0	2	0	2	2	2	4	3	2	2	7	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:35641860G>C	ENST00000353139.5	-	4	831	c.350C>G	c.(349-351)tCt>tGt	p.S117C	ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000394406.2_Missense_Mutation_p.S80C|ACACA_ENST00000360679.3_Missense_Mutation_p.S22C|ACACA_ENST00000335166.5_Missense_Mutation_p.S2C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	80	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTGCAAGCCAGACATGCTGGA	0.423													12	74					0	0	0	0	C	35641860	G	C	35641860	3	2	401	1	0	0	0	0	1	0	0	0	106	942	33	2	7013	2	ACACA	17	35641860	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	6480150	35641860	45553350	144	77046											
BRCA1	672	broad.mit.edu	37	chr17	41209136	41209136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccattgaccacatctcctCtgacttcaaaatcatgctga	11	13	4	13	0	4	3	2	3	2	0	6	3	5	3	3	0	1	1	3	0	2	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41209136C>G	ENST00000309486.4	-	18	5349	c.4322G>C	c.(4321-4323)aGa>aCa	p.R1441T	BRCA1_ENST00000357654.3_Missense_Mutation_p.R1737T|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1690T|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1758T|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1472T|BRCA1_ENST00000352993.3_Missense_Mutation_p.R595T|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1498T|BRCA1_ENST00000468300.1_Missense_Mutation_p.R633T|BRCA1_ENST00000351666.3_Missense_Mutation_p.R554T|BRCA1_ENST00000591534.1_Missense_Mutation_p.R228T|BRCA1_ENST00000491747.2_Missense_Mutation_p.R633T|BRCA1_ENST00000586385.1_Missense_Mutation_p.R47T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1737					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACATCTCCTCTGACTTCAAA	0.433			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			18	123					0	0	0	0	G	41209136	C	G	41209136	3	3	401	1	0	0	0	0	1	0	0	0	1506	913	32	2	401	2	BRCA1	17	41209136	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	5567276	41209136	39986074	145	77047											
SOST	50964	broad.mit.edu	37	chr17	41832885	41832885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaggcgcaccttgcgcGcgcgcggcgcctcaccaccg	5	3	12	21	8	1	0	1	0	0	0	1	0	1	0	6	2	1	1	6	2	0	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41832885G>A	ENST00000301691.2	-	2	513	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	156	CTCK.				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CACCTTGCGCGCGCGCGGCGC	0.711													9	49					0	0	0	0	A	41832885	G	A	41832885	3	1	401	1	0	0	0	0	1	0	0	0	15026	1087	38	1	178	1	SOST	17	41832885	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	623749	41832885	39362325	146	77048											
MPP2	4355	broad.mit.edu	37	chr17	41975692	41975692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaagatcaggtccagctCtgcagcccccgtggcactgg	9	6	13	13	1	2	1	1	0	1	1	3	2	3	2	3	4	3	3	3	4	2	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41975692C>G	ENST00000269095.4	-	3	392	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000377184.3_Missense_Mutation_p.E47Q|MPP2_ENST00000461854.1_Missense_Mutation_p.E30Q|MPP2_ENST00000518766.1_Missense_Mutation_p.E75Q|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000536246.1_Missense_Mutation_p.E19Q|MPP2_ENST00000523501.1_Missense_Mutation_p.E19Q	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	30	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGTCCAGCTCTGCAGCCCCC	0.592													6	42					0	0	0	0	G	41975692	C	G	41975692	3	3	401	1	0	0	0	0	1	0	0	0	9804	922	32	2	1614	2	MPP2	17	41975692	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	142807	41975692	39219518	147	77049											
G6PC3	92579	broad.mit.edu	37	chr17	42153283	42153283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggctgggccacccccctCagatcagcctcttctacatt	7	10	7	17	0	4	1	2	0	2	1	4	1	4	1	5	2	2	1	5	2	1	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:42153283C>G	ENST00000269097.4	+	6	1144	c.913C>G	c.(913-915)Cag>Gag	p.Q305E		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	305					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACCCCCCTCAGATCAGCCT	0.617													11	109					0	0	0	0	G	42153283	C	G	42153283	3	3	401	1	0	0	0	0	1	0	0	0	6193	827	29	2	935	2	G6PC3	17	42153283	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	177591	42153283	39041927	148	77050											
USP32	84669	broad.mit.edu	37	chr17	58258922	58258922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtcagccagctcacatatCtgcccagccccattttcttt	7	12	6	16	1	4	0	2	0	2	0	4	0	4	0	4	0	4	1	4	0	1	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:58258922C>T	ENST00000300896.4	-	32	4505	c.4311G>A	c.(4309-4311)caG>caA	p.Q1437Q	USP32_ENST00000592339.1_Silent_p.Q1107Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1437					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCTCACATATCTGCCCAGCCC	0.547													13	61					0	0	0	0	T	58258922	C	T	58258922	2	4	401	1	0	0	0	0	0	0	0	1	17159	912	32	2		2	USP32	17	58258922	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	16105639	58258922	22936288	149	77051											
FASN	2194	broad.mit.edu	37	chr17	80041239	80041239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccagtcagcactgctctCgttgaagaacgcatccagta	10	8	9	14	3	2	2	1	1	1	1	4	2	3	2	3	0	3	5	3	0	3	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:80041239C>T	ENST00000306749.2	-	32	5622	c.5404G>A	c.(5404-5406)Gag>Aag	p.E1802K		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1802	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCACTGCTCTCGTTGAAGAAC	0.642													8	60					0	0	0	0	T	80041239	C	T	80041239	3	4	401	1	0	0	0	0	1	0	0	0	5728	893	31	1	2179	1	FASN	17	80041239	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	21782317	80041239	1153971	150	77052											
CDH7	1005	broad.mit.edu	37	chr18	63525171	63525171	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctattcacaatatcacagTccttgcaatggagagccgta	12	11	8	10	1	2	1	2	0	0	1	3	2	3	1	2	1	3	3	2	1	5	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr18:63525171T>A	ENST00000536984.2	+	8	2049	c.1355T>A	c.(1354-1356)gTc>gAc	p.V452D	CDH7_ENST00000323011.3_Missense_Mutation_p.V452D|CDH7_ENST00000397968.2_Missense_Mutation_p.V452D			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATATCACAGTCCTTGCAATG	0.408													11	42					0	0	0	0	A	63525171	T	A	63525171	3	1	401	1	0	0	0	0	1	0	0	0	3144	1667	58	5	1381	5	CDH7	18	63525171	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08		63525171	14552077	151	77053											
DSEL	92126	broad.mit.edu	37	chr18	65179810	65179810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcccataaaagacatatGcaattcttgtgattgtgggt	12	13	10	6	0	1	2	0	1	1	1	1	2	1	2	1	2	1	1	1	2	4	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr18:65179810G>A	ENST00000310045.7	-	2	3539	c.2066C>T	c.(2065-2067)gCa>gTa	p.A689V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	679						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAGACATATGCAATTCTTGT	0.368													6	30					0	0	0	0	A	65179810	G	A	65179810	3	1	401	1	0	0	0	0	1	0	0	0	4811	1319	46	4	1606	4	DSEL	18	65179810	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	1654639	65179810	12897438	152	77054											
PPAP2C	8612	broad.mit.edu	37	chr19	288131	288131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaaatcctcgcttgtaCggggcgttcaccagcgtcag	9	9	11	12	4	2	0	2	0	0	0	4	0	3	0	2	2	2	4	2	2	3	4	rs139859911		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:288131C>T	ENST00000269812.3	-	2	142	c.93G>A	c.(91-93)ccG>ccA	p.P31P	PPAP2C_ENST00000434325.2_5'UTR|PPAP2C_ENST00000327790.3_Silent_p.P52P	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	31					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCTTGTACGGGGCGTTCA	0.622													47	67					0	0	0	0	T	288131	C	T	288131	2	4	401	1	0	0	0	0	0	0	0	1	12363	523	19	1		1	PPAP2C	19	288131	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		288131	58840852	153	77055											
ZNF491	126069	broad.mit.edu	37	chr19	11917869	11917869	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaaagcatttcattgtgtCagctcctttcatagacatga	11	13	9	8	0	3	2	3	1	0	1	4	3	4	3	1	1	2	2	1	1	2	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:11917869C>G	ENST00000323169.5	+	3	1432	c.1101C>G	c.(1099-1101)gtC>gtG	p.V367V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TTCATTGTGTCAGCTCCTTTC	0.403													10	56					0	0	0	0	G	11917869	C	G	11917869	2	3	401	1	0	0	0	0	0	0	0	1	18037	813	29	2		2	ZNF491	19	11917869	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	11629738	11917869	47211114	154	77056											
PKN1	5585	broad.mit.edu	37	chr19	14568886	14568886	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggataacacagtggtgggGcagacgtcttggaagccatg	10	8	15	8	1	1	1	0	0	1	1	1	3	1	3	1	5	2	1	1	5	2	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:14568886G>T	ENST00000242783.6	+	8	1374	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G	PKN1_ENST00000342216.4_Silent_p.G409G	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	403	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTGGTGGGGCAGACGTCTT	0.572													53	234					8.28887e-21	9.2223e-21	1	0	T	14568886	G	T	14568886	2	4	401	1	0	0	0	0	0	0	0	1	12051	1190	42	4		4	PKN1	19	14568886	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	2651017	14568886	44560097	155	77057											
EMR3	84658	broad.mit.edu	37	chr19	14748918	14748918	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggattcaagctcaccGatcagcagttccataaaggt	12	9	11	9	1	3	0	3	0	0	0	4	2	4	1	2	3	2	3	2	3	3	3	rs149254238		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:14748918G>T	ENST00000253673.5	-	11	1583	c.1484_splice	c.e11+1	p.R495_splice	EMR3_ENST00000443157.2_Splice_Site_p.R369_splice|EMR3_ENST00000599900.1_Splice_Site_p.R280_splice|EMR3_ENST00000344373.4_Splice_Site_p.R443_splice	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	495					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R495*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAAGCTCACCGATCAGCAGTT	0.498													7	109					5.18039e-06	5.44492e-06	1	0	T	14748918	G	T	14748918	5	4	401	1	0	0	0	0	0	0	1	0	5144	1072	37	3	499	3	EMR3	19	14748918	Splice_Site	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	180032	14748918	44380065	156	77058											
SLC5A5	6528	broad.mit.edu	37	chr19	17999159	17999159	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggaatggacgccagcCgacccgccttagctgacagc	9	5	12	15	3	1	1	1	1	0	0	1	4	1	3	4	2	3	2	4	2	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:17999159C>T	ENST00000222248.3	+	13	1893	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	516					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACGCCAGCCGACCCGCCTT	0.577													26	160					0	0	0	0	T	17999159	C	T	17999159	4	4	401	1	0	0	0	0	0	1	0	0	14756	644	23	1	1596	1	SLC5A5	19	17999159	Nonsense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	3250241	17999159	41129824	157	77059											
ZNF43	7594	broad.mit.edu	37	chr19	21991248	21991248	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtttctctccagtatgagTtatcttatgttcagtaagct	8	17	9	7	0	3	1	1	1	2	0	5	1	4	1	1	1	1	6	1	1	4	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:21991248T>C	ENST00000594012.1	-	7	2087	c.1573A>G	c.(1573-1575)Act>Gct	p.T525A	ZNF43_ENST00000354959.4_Missense_Mutation_p.T531A|ZNF43_ENST00000598381.1_Missense_Mutation_p.T525A|ZNF43_ENST00000595461.1_Missense_Mutation_p.T525A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCAGTATGAGTTATCTTATGT	0.348													15	41					0	0	0	0	C	21991248	T	C	21991248	3	2	401	1	0	0	0	0	1	0	0	0	17998	1725	60	5	842	5	ZNF43	19	21991248	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	3992089	21991248	37137735	158	77060											
CCDC97	90324	broad.mit.edu	37	chr19	41828539	41828539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttcgacaacctcgacatCgtggcacgggatgaggagga	11	6	14	10	4	0	1	0	1	0	0	3	7	0	4	1	4	1	1	1	4	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:41828539C>T	ENST00000269967.3	+	5	1073	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	317										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCTCGACATCGTGGCACGGG	0.617													17	122					0	0	0	0	T	41828539	C	T	41828539	2	4	401	1	0	0	0	0	0	0	0	1	2902	874	31	1		1	CCDC97	19	41828539	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	19837291	41828539	17300444	159	77061											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406962	42406962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcccgcggtgccgccGcctgcagctgaaggacatga	7	4	15	15	5	0	2	0	2	0	0	0	4	0	3	5	2	4	2	5	2	1	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:42406962G>A	ENST00000599846.1	+	19	1945	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R518H|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R566H|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R551H|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R533H			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	551					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CGGTGCCGCCGCCTGCAGCTG	0.667													27	99					0	0	0	0	A	42406962	G	A	42406962	3	1	401	1	0	0	0	0	1	0	0	0	895	1087	38	1	1767	1	ARHGEF1	19	42406962	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	578423	42406962	16722021	160	77062											
ZNF574	64763	broad.mit.edu	37	chr19	42584120	42584120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagccccctgtgtctgaGgagacctcagcagggcccgc	6	6	13	16	1	2	3	1	2	1	1	2	4	2	3	5	2	2	1	5	2	0	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:42584120G>A	ENST00000600245.1	+	2	2017	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.E454E|ZNF574_ENST00000222339.7_Silent_p.E544E			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CTGTGTCTGAGGAGACCTCAG	0.632													10	93					0	0	0	0	A	42584120	G	A	42584120	2	1	401	1	0	0	0	0	0	0	0	1	18101	991	35	4		4	ZNF574	19	42584120	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	177158	42584120	16544863	161	77063											
XRCC1	7515	broad.mit.edu	37	chr19	44050066	44050066	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacgggtcttccccattctCctcctggccagggggcagtc	5	10	11	15	1	2	0	0	0	2	0	6	0	4	0	5	4	1	1	5	4	1	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:44050066C>A	ENST00000262887.5	-	14	2072	c.1525G>T	c.(1525-1527)Gag>Tag	p.E509*	XRCC1_ENST00000543982.1_Nonsense_Mutation_p.E478*			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	509					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCCCATTCTCCTCCTGGCCA	0.617								Other BER factors					6	50					0.00116845	0.00119754	1	0	A	44050066	C	A	44050066	4	1	401	1	0	0	0	0	0	1	0	0	17548	864	30	2	392	2	XRCC1	19	44050066	Nonsense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	1465946	44050066	15078917	162	77064											
STRN4	29888	broad.mit.edu	37	chr19	47228847	47228847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgaatgccgtcgtagtgcGagcgcagggtgaacttgggg	9	7	17	8	5	0	1	0	1	0	0	1	3	0	1	1	3	5	2	1	3	4	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:47228847G>A	ENST00000391910.3	-	10	1778	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	STRN4_ENST00000263280.6_Missense_Mutation_p.S436L|STRN4_ENST00000539396.1_Missense_Mutation_p.S317L|STRN4_ENST00000594357.2_5'UTR			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	436						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTCGTAGTGCGAGCGCAGGGT	0.602													12	69					0	0	0	0	A	47228847	G	A	47228847	3	1	401	1	0	0	0	0	1	0	0	0	15421	1059	37	1	986	1	STRN4	19	47228847	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	3178781	47228847	11900136	163	77065											
NLRP12	91662	broad.mit.edu	37	chr19	54313706	54313706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagcacaccagggggaCgaagcacatggtgaagagag	14	2	14	11	1	0	2	0	1	0	1	0	5	0	3	2	3	2	2	2	3	2	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:54313706C>T	ENST00000324134.6	-	3	1375	c.1207G>A	c.(1207-1209)Gtc>Atc	p.V403I	NLRP12_ENST00000391773.1_Missense_Mutation_p.V403I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V403I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V403I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V403I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V403I|NLRP12_ENST00000535162.1_Missense_Mutation_p.V403I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V403I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	403	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.V403F(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACCAGGGGGACGAAGCACATG	0.557													46	258					0	0	0	0	T	54313706	C	T	54313706	3	4	401	1	0	0	0	0	1	0	0	0	10544	536	19	1	2106	1	NLRP12	19	54313706	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	7084859	54313706	4815277	164	77066											
ZNF17	7565	broad.mit.edu	37	chr19	57932040	57932043	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															aatgcaacgaatgtgggaaaTtctttagataccgttccaca																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:57932040_57932043delTTCT	ENST00000307658.7	+	4	1449_1452	c.1186_1189delTTCT	c.(1186-1191)ttfs	p.FF396fs	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Frame_Shift_Del_p.FF394fs			P17021	ZNF17_HUMAN	zinc finger protein 17	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ATGTGGGAAATTCTTTAGATACCG	0.402													11	86	---	---	---	---					-	57932043	TTCT	-	57932040	7	5	401	1	0	1	0	1	0	0	0	0	17838	1493	52	0	1190	0	ZNF17	19	57932040	Frame_Shift_Del	DEL	TTCT	TCGA-F7-A50J-01A-21D-A28R-08	3618334	57932040	1196943	165	77067											
ZSCAN22	342945	broad.mit.edu	37	chr19	58846413	58846413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggctgcagcccgaggCgcactccaaggagcagatac	10	5	13	13	2	1	1	1	0	0	1	2	3	2	2	2	3	4	4	2	3	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:58846413C>T	ENST00000329665.4	+	2	392	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	82	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CAGCCCGAGGCGCACTCCAAG	0.667													5	73					0	0	0	0	T	58846413	C	T	58846413	3	4	401	1	0	0	0	0	1	0	0	0	18326	768	27	1	247	1	ZSCAN22	19	58846413	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	914373	58846413	282570	166	77068											
ZNF343	79175	broad.mit.edu	37	chr20	2464242	2464242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagagtgcgtccgctcGtgtatgatgagggttgactt	6	13	13	9	3	1	4	0	3	1	1	4	4	2	4	2	1	1	3	2	1	1	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:2464242G>A	ENST00000278772.4	-	6	1852	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GCGTCCGCTCGTGTATGATGA	0.522													8	102					0	0	0	0	A	2464242	G	A	2464242	2	1	401	1	0	0	0	0	0	0	0	1	17953	1136	40	1		1	ZNF343	20	2464242	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08		2464242	60561278	167	77069											
C20orf194	25943	broad.mit.edu	37	chr20	3262362	3262362	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaggaggccttgacatttGagtctgggtgggtctgcagg	7	11	17	6	0	2	3	0	3	2	0	2	4	2	4	1	5	1	1	1	5	1	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:3262362G>C	ENST00000252032.9	-	28	2604	c.2537C>G	c.(2536-2538)tCa>tGa	p.S846*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	846										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTTGACATTTGAGTCTGGGTG	0.488													8	97					0	0	0	0	C	3262362	G	C	3262362	4	2	401	1	0	0	0	0	0	1	0	0	2119	1294	45	2	1036	2	C20orf194	20	3262362	Nonsense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	798120	3262362	59763158	168	77070											
PLCB1	23236	broad.mit.edu	37	chr20	8745842	8745842	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaatcgtttgtgaaacttCaaaagaaacactacaaagaa	21	8	6	6	1	1	4	1	1	0	3	2	4	1	4	0	0	3	1	0	0	8	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:8745842C>T	ENST00000378641.3	+	26	3242	c.2767C>T	c.(2767-2769)Caa>Taa	p.Q923*	PLCB1_ENST00000338037.6_Nonsense_Mutation_p.Q923*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.Q923*	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	923					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTGAAACTTCAAAAGAAACA	0.378													6	40					0	0	0	0	T	8745842	C	T	8745842	4	4	401	1	0	0	0	0	0	1	0	0	12099	827	29	2	2869	2	PLCB1	20	8745842	Nonsense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	5483480	8745842	54279678	169	77071											
CBFA2T2	9139	broad.mit.edu	37	chr20	32212681	32212681	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctctcactgtgcccctCatgaatcccgggggccaatt	6	10	9	16	1	2	1	2	1	1	0	4	1	3	1	5	2	2	1	5	2	2	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:32212681C>G	ENST00000346541.3	+	7	1368	c.831C>G	c.(829-831)ctC>ctG	p.L277L	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Silent_p.L248L|CBFA2T2_ENST00000342704.5_Silent_p.L268L|CBFA2T2_ENST00000375279.2_Silent_p.L277L|CBFA2T2_ENST00000359606.3_Silent_p.L287L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	277						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CTGTGCCCCTCATGAATCCCG	0.517													36	67					0	0	0	0	G	32212681	C	G	32212681	2	3	401	1	0	0	0	0	0	0	0	1	2722	813	29	2		2	CBFA2T2	20	32212681	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	23466839	32212681	30812839	170	77072											
TTPAL	79183	broad.mit.edu	37	chr20	43108867	43108867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaacctgagcacatccctCgacgatgccttcctgctgcg	7	8	8	18	3	0	1	0	1	0	0	3	3	2	1	5	0	5	2	5	0	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:43108867C>T	ENST00000372904.3	+	3	371	c.228C>T	c.(226-228)ctC>ctT	p.L76L	TTPAL_ENST00000262605.4_Silent_p.L76L|TTPAL_ENST00000372906.2_Silent_p.L76L	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	76						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GCACATCCCTCGACGATGCCT	0.597													7	52					0	0	0	0	T	43108867	C	T	43108867	2	4	401	1	0	0	0	0	0	0	0	1	16833	871	31	1		1	TTPAL	20	43108867	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	10896186	43108867	19916653	171	77073											
SLC13A3	64849	broad.mit.edu	37	chr20	45224897	45224897	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggagatgaggaagcccttCcagatgttccgacgatattc	11	10	11	9	2	0	3	0	1	0	2	3	7	2	4	3	2	1	1	3	2	2	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:45224897C>T	ENST00000279027.4	-	5	711	c.693G>A	c.(691-693)tgG>tgA	p.W231*	SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000413164.2_Missense_Mutation_p.G209E|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000372121.1_Missense_Mutation_p.G209E|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W184*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	231						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGAAGCCCTTCCAGATGTTCC	0.552													13	122					0	0	0	0	T	45224897	C	T	45224897	4	4	401	1	0	0	0	0	0	1	0	0	14481	856	30	2	1151	2	SLC13A3	20	45224897	Nonsense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	2116030	45224897	17800623	172	77074											
NRIP1	8204	broad.mit.edu	37	chr21	16339064	16339064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaattctttgaggtatcttGatcttctttgatatctacat	10	19	6	6	0	5	4	0	3	5	1	5	4	5	4	0	1	1	1	0	1	4	8			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr21:16339064G>C	ENST00000400202.1	-	3	2162	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E	NRIP1_ENST00000400199.1_Missense_Mutation_p.Q484E|NRIP1_ENST00000318948.4_Missense_Mutation_p.Q484E			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	484	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GAGGTATCTTGATCTTCTTTG	0.363													6	64					0	0	0	0	C	16339064	G	C	16339064	3	2	401	1	0	0	0	0	1	0	0	0	10723	1299	45	2	2030	2	NRIP1	21	16339064	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08		16339064	31790831	173	77075											
AIFM3	150209	broad.mit.edu	37	chr22	21331013	21331013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctggaggagacgcccttCaggaggttcctgggggagcg	7	6	19	9	2	1	1	1	0	0	1	2	6	2	4	2	6	2	2	2	6	0	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:21331013C>T	ENST00000399167.2	+	12	1344	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	AIFM3_ENST00000405089.1_Silent_p.F374F|AIFM3_ENST00000440238.2_Silent_p.F368F|AIFM3_ENST00000399163.2_Silent_p.F368F|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.F368F|AIFM3_ENST00000335375.5_Silent_p.F356F	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACGCCCTTCAGGAGGTTCC	0.692													5	13					0	0	0	0	T	21331013	C	T	21331013	2	4	401	1	0	0	0	0	0	0	0	1	428	825	29	2		2	AIFM3	22	21331013	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		21331013	29973553	174	77076											
MYO18B	84700	broad.mit.edu	37	chr22	26270302	26270302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgagaagcagcgagagaAgctggtatctcagagcatcg	12	7	14	8	2	1	3	1	1	1	3	3	6	1	3	0	1	4	5	0	1	3	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:26270302A>C	ENST00000335473.7	+	23	4251	c.4001A>C	c.(4000-4002)aAg>aCg	p.K1334T	MYO18B_ENST00000536101.1_Missense_Mutation_p.K1334T|MYO18B_ENST00000407587.2_Missense_Mutation_p.K1335T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1334						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGCGAGAGAAGCTGGTATCT	0.532													21	45					0	0	0	0	C	26270302	A	C	26270302	3	2	401	1	0	0	0	0	1	0	0	0	10136	72	3	5	4087	5	MYO18B	22	26270302	Missense_Mutation	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	4939289	26270302	25034264	175	77077											
DUSP18	150290	broad.mit.edu	37	chr22	31059456	31059456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaaacggacttccttctCatagatgtcagggatcattc	11	12	7	11	1	4	1	4	0	1	1	7	3	5	3	1	2	1	0	1	2	2	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:31059456C>G	ENST00000334679.3	-	2	1040	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	DUSP18_ENST00000407308.1_Missense_Mutation_p.E179Q|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.E179Q|DUSP18_ENST00000403268.1_3'UTR	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	179						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTTCCTTCTCATAGATGTCA	0.488													14	51					0	0	0	0	G	31059456	C	G	31059456	3	3	401	1	0	0	0	0	1	0	0	0	4853	835	29	2	35	2	DUSP18	22	31059456	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	4789154	31059456	20245110	176	77078											
DDX17	10521	broad.mit.edu	37	chr22	38881948	38881948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgagtggtttcatttacGtgaaggaggaggagggggag	10	10	18	3	1	1	2	1	2	0	0	1	6	1	6	0	6	1	1	0	6	2	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:38881948G>A	ENST00000396821.3	-	13	2287	c.2188C>T	c.(2188-2190)Cgt>Tgt	p.R730C	DDX17_ENST00000444597.1_Missense_Mutation_p.R180C|DDX17_ENST00000381633.3_Missense_Mutation_p.R651C	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	649					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTTCATTTACGTGAaggagga	0.453													13	61					0	0	0	0	A	38881948	G	A	38881948	3	1	401	1	0	0	0	0	1	0	0	0	4376	1145	40	1	11	1	DDX17	22	38881948	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	7822492	38881948	12422618	177	77079											
TLR8	51311	broad.mit.edu	37	chrX	12938750	12938750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaattttcagccattcctCatgtcaaatatttggatttg	10	17	6	8	0	3	1	3	1	0	0	4	2	4	2	2	1	1	0	2	1	3	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:12938750C>T	ENST00000218032.6	+	2	1678	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	TLR8_ENST00000311912.5_Missense_Mutation_p.H549Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	531					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGCCATTCCTCATGTCAAATA	0.363													6	43					0	0	0	0	T	12938750	C	T	12938750	3	4	401	1	0	0	0	0	1	0	0	0	16051	826	29	2	1597	2	TLR8	23	12938750	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08		12938750	142331810	178	77080											
RBBP7	5931	broad.mit.edu	37	chrX	16887242	16887242	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacggtaagactgggccactGaagagcatgggtcataacca	14	6	12	9	1	1	3	1	1	0	2	1	3	1	3	2	3	3	2	2	3	4	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:16887242G>A	ENST00000380087.2	-	2	478	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	RBBP7_ENST00000404022.1_Nonsense_Mutation_p.Q40*|RBBP7_ENST00000380084.4_Nonsense_Mutation_p.Q84*			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	40					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CTGGGCCACTGAAGAGCATGG	0.398													15	87					0	0	0	0	A	16887242	G	A	16887242	4	1	401	1	0	0	0	0	0	1	0	0	13186	1299	45	2	1203	2	RBBP7	23	16887242	Nonsense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	3948492	16887242	138383318	179	77081											
CXorf58	254158	broad.mit.edu	37	chrX	23934385	23934385	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtttaaaatttttcttcaTactgatggccatggttacaa	11	17	7	6	0	2	1	1	1	1	0	2	1	2	1	1	2	2	2	1	2	5	7			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:23934385T>C	ENST00000379211.3	+	5	912	c.363T>C	c.(361-363)caT>caC	p.H121H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	121										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTTTCTTCATACTGATGGCC	0.318													7	19					0	0	0	0	C	23934385	T	C	23934385	2	2	401	1	0	0	0	0	0	0	0	1	4146	1403	49	5		5	CXorf58	23	23934385	Silent	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	7047143	23934385	131336175	180	77082											
FAM47A	158724	broad.mit.edu	37	chrX	34149642	34149642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatctccgacgagtgatggGaggccccgggcggatatggg	7	6	19	9	4	1	1	0	1	1	0	2	6	1	4	3	6	0	0	3	6	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:34149642G>C	ENST00000346193.3	-	1	805	c.754C>G	c.(754-756)Ccc>Gcc	p.P252A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	252	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGAGTGATGGGAGGCCCCGGG	0.632													20	71					0	0	0	0	C	34149642	G	C	34149642	3	2	401	1	0	0	0	0	1	0	0	0	5616	1174	41	2	1625	2	FAM47A	23	34149642	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	10215257	34149642	121120918	181	77083											
FAM47B	170062	broad.mit.edu	37	chrX	34962366	34962366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caagtgggctggagacctagGagttaatgaagaatccatca	14	8	12	7	0	1	3	1	1	0	2	2	5	2	4	2	3	0	2	2	3	5	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:34962366G>C	ENST00000329357.5	+	1	1454	c.1418G>C	c.(1417-1419)gGa>gCa	p.G473A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	473										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAGACCTAGGAGTTAATGAA	0.453													15	135					0	0	0	0	C	34962366	G	C	34962366	3	2	401	1	0	0	0	0	1	0	0	0	5617	1174	41	2	1420	2	FAM47B	23	34962366	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	812724	34962366	120308194	182	77084											
NDP	4693	broad.mit.edu	37	chrX	43809195	43809195	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaacggaagggttgcttgagGacagtgctgaacgacaccaa	13	6	14	8	2	0	2	0	2	0	0	0	6	0	4	1	3	4	3	1	3	4	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:43809195G>C	ENST00000378062.5	-	3	659	c.252C>G	c.(250-252)gtC>gtG	p.V84V	NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	84	CTCK.				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						GTTGCTTGAGGACAGTGCTGA	0.627											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0	0	0	0	C	43809195	G	C	43809195	2	2	401	1	0	0	0	0	0	0	0	1	10320	1161	41	2		2	NDP	23	43809195	Silent	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	8846829	43809195	111461365	183	77085											
FAAH2	158584	broad.mit.edu	37	chrX	57367792	57367792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcgaatgcctgctttcttCaatggtatatttggacacaa	11	15	7	8	1	2	0	1	0	1	0	3	2	2	1	1	2	2	2	1	2	5	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:57367792C>G	ENST00000374900.4	+	5	831	c.711C>G	c.(709-711)ttC>ttG	p.F237L		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	237						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CTGCTTTCTTCAATGGTATAT	0.423										HNSCC(52;0.14)			25	179					0	0	0	0	G	57367792	C	G	57367792	3	3	401	1	0	0	0	0	1	0	0	0	5395	825	29	2	729	2	FAAH2	23	57367792	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	13558597	57367792	97902768	184	77086											
KIF4A	24137	broad.mit.edu	37	chrX	69622516	69622516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaccattctggaagccAagtgtgccctgaaatatttg	10	12	9	10	0	1	1	0	1	1	0	1	2	1	2	4	1	3	0	4	1	4	4			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:69622516A>G	ENST00000374403.3	+	23	2672	c.2590A>G	c.(2590-2592)Aag>Gag	p.K864E	KIF4A_ENST00000374388.3_Missense_Mutation_p.K864E	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	864	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTGGAAGCCAAGTGTGCCCT	0.463													6	24					0	0	0	0	G	69622516	A	G	69622516	3	3	401	1	0	0	0	0	1	0	0	0	8354	131	5	5	2676	5	KIF4A	23	69622516	Missense_Mutation	SNP	A	TCGA-F7-A50J-01A-21D-A28R-08	12254724	69622516	85648044	185	77087											
ZMYM3	9203	broad.mit.edu	37	chrX	70467620	70467620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacttgctcttacagtcCtcactgcagaagtcccaggt	9	11	9	12	0	2	1	1	0	1	1	4	1	4	1	2	2	4	3	2	2	3	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:70467620C>A	ENST00000373998.1	-	12	2809	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	ZMYM3_ENST00000353904.2_Missense_Mutation_p.E704D|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E706D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E704D|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E706D	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	704					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTACAGTCCTCACTGCAGA	0.592													19	54					3.99206e-14	4.363e-14	1	0	A	70467620	C	A	70467620	3	1	401	1	0	0	0	0	1	0	0	0	17796	680	24	4	2056	4	ZMYM3	23	70467620	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	845104	70467620	84802940	186	77088											
KIAA2022	340533	broad.mit.edu	37	chrX	73960759	73960759	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggagtttttgccaggTggtttttcaatccccttgtt	4	17	12	8	1	1	0	1	0	0	0	2	1	2	1	3	4	1	3	3	4	1	6			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:73960759T>A	ENST00000373468.1	-	3	4284	c.3633A>T	c.(3631-3633)ccA>ccT	p.P1211P	KIAA2022_ENST00000055682.5_Silent_p.P1211P			Q5QGS0	K2022_HUMAN	KIAA2022	1211					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTTGCCAGGTGGTTTTTCAA	0.468													7	54					0	0	0	0	A	73960759	T	A	73960759	2	1	401	1	0	0	0	0	0	0	0	1	8320	1683	59	5		5	KIAA2022	23	73960759	Silent	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	3493139	73960759	81309801	187	77089											
ARMCX2	9823	broad.mit.edu	37	chrX	100911996	100911996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaccccaggaccctcggtCacctcagtgggtgctgccgc	5	7	12	17	2	2	0	2	0	0	0	3	1	2	1	5	3	3	2	5	3	1	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:100911996C>T	ENST00000328766.5	-	5	1032	c.579G>A	c.(577-579)gtG>gtA	p.V193V	ARMCX2_ENST00000356824.4_Silent_p.V193V|ARMCX2_ENST00000330154.2_Silent_p.V193V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	193	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GACCCTCGGTCACCTCAGTGG	0.652													16	63					0	0	0	0	T	100911996	C	T	100911996	2	4	401	1	0	0	0	0	0	0	0	1	964	813	29	2		2	ARMCX2	23	100911996	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	26951237	100911996	54358564	188	77090											
TMEM31	203562	broad.mit.edu	37	chrX	102968693	102968693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgattgcctgctctttttGagctttatcctgaatttctt	6	20	6	9	1	2	2	0	2	2	0	4	3	3	2	2	0	3	2	2	0	2	7			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:102968693G>C	ENST00000319560.6	+	3	465	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	92						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGCTCTTTTTGAGCTTTATCC	0.453													28	155					0	0	0	0	C	102968693	G	C	102968693	3	2	401	1	0	0	0	0	1	0	0	0	16249	1291	45	2	280	2	TMEM31	23	102968693	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	2056697	102968693	52301867	189	77091											
IRS4	8471	broad.mit.edu	37	chrX	107979424	107979424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagagccacatggctcccgGacaagacgacccggtcccaa	11	3	12	15	3	0	2	0	0	0	2	2	5	2	3	4	4	1	1	4	4	2	0			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:107979424G>A	ENST00000372129.2	-	1	227	c.151C>T	c.(151-153)Ccg>Tcg	p.P51S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	51						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATGGCTCCCGGACAAGACGAC	0.667													13	124					0	0	0	0	A	107979424	G	A	107979424	3	1	401	1	0	0	0	0	1	0	0	0	7895	1174	41	2	3626	2	IRS4	23	107979424	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	5010731	107979424	47291136	190	77092											
TRPC5	7224	broad.mit.edu	37	chrX	111020092	111020092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacactcttggatttggcccGagccccaccactgccatcat	8	9	8	16	1	2	0	1	0	1	0	2	3	2	1	5	2	2	0	5	2	0	2	rs138566611		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:111020092G>A	ENST00000262839.2	-	11	3289	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	791					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATTTGGCCCGAGCCCCACCA	0.488													31	253					0	0	0	0	A	111020092	G	A	111020092	3	1	401	1	0	0	0	0	1	0	0	0	16677	1057	37	1	554	1	TRPC5	23	111020092	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	3040668	111020092	44250468	191	77093											
THOC2	57187	broad.mit.edu	37	chrX	122757984	122757984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctaattgatcagccttatttCcaccatcaaatccagttgcc	11	13	4	13	0	2	1	2	1	0	0	4	1	4	1	5	0	2	1	5	0	3	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:122757984C>T	ENST00000245838.8	-	27	3276	c.3245G>A	c.(3244-3246)gGa>gAa	p.G1082E	THOC2_ENST00000491737.1_Missense_Mutation_p.G967E|THOC2_ENST00000355725.4_Missense_Mutation_p.G1082E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1082					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGCCTTATTTCCACCATCAAA	0.313													4	62					0	0	0	0	T	122757984	C	T	122757984	3	4	401	1	0	0	0	0	1	0	0	0	15959	855	30	2	1584	2	THOC2	23	122757984	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	11737892	122757984	32512576	192	77094											
ENOX2	10495	broad.mit.edu	37	chrX	129771375	129771375	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcagagcttctgcctgtGatactaaggctaacaatcaa	12	11	7	11	0	3	2	2	1	1	1	3	2	3	2	2	1	4	2	2	1	5	5			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:129771375G>C	ENST00000338144.3	-	12	1643	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*	ENOX2_ENST00000370927.1_Nonsense_Mutation_p.S409*|ENOX2_ENST00000370935.1_Nonsense_Mutation_p.S380*|ENOX2_ENST00000394363.1_Nonsense_Mutation_p.S380*	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	409					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCTGCCTGTGATACTAAGGC	0.408													13	72					0	0	0	0	C	129771375	G	C	129771375	4	2	401	1	0	0	0	0	0	1	0	0	5165	1294	45	2	626	2	ENOX2	23	129771375	Nonsense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	7013391	129771375	25499185	193	77095											
GPR112	139378	broad.mit.edu	37	chrX	135455200	135455200	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctttcagcattcactccTatgaagaaggcacagaccct	11	10	8	12	0	2	3	2	1	0	2	3	3	3	3	2	2	1	3	2	2	3	3	rs145241863		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:135455200T>G	ENST00000394143.1	+	15	8044	c.7753T>G	c.(7753-7755)Tat>Gat	p.Y2585D	GPR112_ENST00000412101.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000287534.4_Missense_Mutation_p.Y2383D|GPR112_ENST00000394141.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000370652.1_Missense_Mutation_p.Y2585D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2585					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTCACTCCTATGAAGAAGG	0.537													29	302					0	0	0	0	G	135455200	T	G	135455200	3	3	401	1	0	0	0	0	1	0	0	0	6678	1522	53	5	7799	5	GPR112	23	135455200	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	5683825	135455200	19815360	194	77096			1	114		2	2	16	N	T_G	9.642044e-05
GPR112	139378	broad.mit.edu	37	chrX	135455215	135455215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcctatgaagaaggcacaGaccctgaggtgagtgcagct	12	7	12	10	0	0	5	0	3	0	2	1	5	1	5	2	2	2	3	2	2	3	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:135455215G>C	ENST00000394143.1	+	15	8059	c.7768G>C	c.(7768-7770)Gac>Cac	p.D2590H	GPR112_ENST00000412101.1_Missense_Mutation_p.D2385H|GPR112_ENST00000287534.4_Missense_Mutation_p.D2388H|GPR112_ENST00000394141.1_Missense_Mutation_p.D2385H|GPR112_ENST00000370652.1_Missense_Mutation_p.D2590H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2590					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGAAGGCACAGACCCTGAGGT	0.552													27	270					0	0	0	0	C	135455215	G	C	135455215	3	2	401	1	0	0	0	0	1	0	0	0	6678	942	33	2	7814	2	GPR112	23	135455215	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	15	135455215	19815345	195	77097			1	114		2	2	16	N	T_G	9.642044e-05
IDS	3423	broad.mit.edu	37	chrX	148586584	148586584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggtcgagttggcctgCgtttcggatccgagggcgac	4	10	16	11	5	0	0	0	0	0	0	3	4	1	1	3	4	1	2	3	4	0	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:148586584C>T	ENST00000340855.6	-	1	293	c.84G>A	c.(82-84)acG>acA	p.T28T	IDS_ENST00000428056.2_Silent_p.T28T|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Silent_p.T28T|IDS_ENST00000370443.4_Silent_p.T28T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	28						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGTTGGCCTGCGTTTCGGATC	0.647													7	103					0	0	0	0	T	148586584	C	T	148586584	2	4	401	1	0	0	0	0	0	0	0	1	7556	755	27	1		1	IDS	23	148586584	Silent	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	13131369	148586584	6683976	196	77098											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-																															tggttcctggcctattggttGtggtggtggtggtgtggtcc																										TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	270	---	---	---	---					-	149984526	GTG	-	149984524	7	5	401	1	0	1	0	1	0	0	0	0	3080	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-F7-A50J-01A-21D-A28R-08	1397940	149984524	5286036	197	77099											
GABRQ	55879	broad.mit.edu	37	chrX	151808895	151808895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggacagggtgctgtcaaGatacgatgtccgcctgagac	9	10	13	9	2	1	2	1	1	0	2	2	5	2	3	2	2	2	1	2	2	2	2			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:151808895G>C	ENST00000370306.2	+	2	226	c.206G>C	c.(205-207)aGa>aCa	p.R69T		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	69						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGTCAAGATACGATGTC	0.473													11	145					0	0	0	0	C	151808895	G	C	151808895	3	2	401	1	0	0	0	0	1	0	0	0	6223	942	33	2	212	2	GABRQ	23	151808895	Missense_Mutation	SNP	G	TCGA-F7-A50J-01A-21D-A28R-08	1824371	151808895	3461665	198	77100											
BCAP31	10134	broad.mit.edu	37	chrX	152967530	152967530	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcagactgcttccgcaTggccagaacctggttttcag	7	10	10	14	1	2	2	2	0	0	2	3	2	3	2	4	2	2	3	4	2	1	3			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:152967530T>A	ENST00000458587.2	-	7	1264	c.835A>T	c.(835-837)Atg>Ttg	p.M279L	BCAP31_ENST00000477175.1_Intron|BCAP31_ENST00000441714.1_Missense_Mutation_p.M212L|BCAP31_ENST00000345046.6_Missense_Mutation_p.M212L	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	212					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTCCGCATGGCCAGAACC	0.522													13	40					0	0	0	0	A	152967530	T	A	152967530	3	1	401	1	0	0	0	0	1	0	0	0	1351	1464	51	5	114	5	BCAP31	23	152967530	Missense_Mutation	SNP	T	TCGA-F7-A50J-01A-21D-A28R-08	1158635	152967530	2303030	199	77101											
TKTL1	8277	broad.mit.edu	37	chrX	153524217	153524217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggggttggactaatggCggatgctgaggcgagggctg	9	7	19	6	2	0	1	0	1	0	0	0	4	0	3	0	7	1	3	0	7	2	2	rs141543964		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:153524217C>T	ENST00000369915.3	+	1	194	c.5C>T	c.(4-6)gCg>gTg	p.A2V	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	2					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGACTAATGGCGGATGCTGAG	0.597													46	91					0	0	0	0	T	153524217	C	T	153524217	3	4	401	1	0	0	0	0	1	0	0	0	16029	768	27	1	7	1	TKTL1	23	153524217	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	556687	153524217	1746343	200	77102											
F8	2157	broad.mit.edu	37	chrX	154185290	154185290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaggagagggccaatgagtCctgaagctagatctctctcc	10	9	12	10	0	2	5	0	3	2	2	5	6	3	5	3	2	1	1	3	2	3	1			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:154185290C>G	ENST00000360256.4	-	11	1894	c.1694G>C	c.(1693-1695)gGa>gCa	p.G565A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	565	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCAATGAGTCCTGAAGCTAG	0.463													25	191					0	0	0	0	G	154185290	C	G	154185290	3	3	401	1	0	0	0	0	1	0	0	0	5388	855	30	2	5453	2	F8	23	154185290	Missense_Mutation	SNP	C	TCGA-F7-A50J-01A-21D-A28R-08	661073	154185290	1085270	201	77103											
HSPG2	3339	broad.mit.edu	37	chr1	22176563	22176563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggaggctgcccccgcGcttgtgccacgtgacctggg	3	6	17	15	4	0	1	0	1	0	0	0	2	0	2	5	4	2	2	5	4	0	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:22176563G>A	ENST00000374695.3	-	57	7496	c.7417C>T	c.(7417-7419)Cgc>Tgc	p.R2473C	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2473	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGCCCCCGCGCTTGTGCCAC	0.657													39	154					0	0	0	0	A	22176563	G	A	22176563	3	1	402	1	0	0	0	0	1	0	0	0	7483	1087	38	1	5922	1	HSPG2	1	22176563	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08		22176563	227074058	1	77104											
TINAGL1	64129	broad.mit.edu	37	chr1	32051466	32051466	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcatgggacccactcagtCaagatcacagggtgaggggc	10	5	15	11	1	3	2	3	1	0	1	3	3	3	3	1	5	0	1	1	5	1	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:32051466C>G	ENST00000271064.7	+	10	1282	c.1206C>G	c.(1204-1206)gtC>gtG	p.V402V	TINAGL1_ENST00000457433.2_Silent_p.V371V|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	402					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCCACTCAGTCAAGATCACAG	0.587													4	10					0	0	0	0	G	32051466	C	G	32051466	2	3	402	1	0	0	0	0	0	0	0	1	16016	813	29	2		2	TINAGL1	1	32051466	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	9874903	32051466	217199155	2	77105											
EPS15	2060	broad.mit.edu	37	chr1	51829611	51829611	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggttcatcttcacttttGaccgatgtttcctcaaatac	8	15	8	10	1	4	1	3	1	1	0	5	2	5	1	2	2	1	2	2	2	2	6			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:51829611G>A	ENST00000371733.3	-	23	2382	c.2286C>T	c.(2284-2286)gtC>gtT	p.V762V	EPS15_ENST00000396122.4_Silent_p.V439V|EPS15_ENST00000371730.2_Silent_p.V628V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	762	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTTCACTTTTGACCGATGTTT	0.438			T	MLL	ALL								18	52					0	0	0	0	A	51829611	G	A	51829611	2	1	402	1	0	0	0	0	0	0	0	1	5230	1277	45	2		2	EPS15	1	51829611	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	19778145	51829611	197421010	3	77106											
SGIP1	84251	broad.mit.edu	37	chr1	67160169	67160169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgccctcgtttgaaaggCgctgtgaaacgcctgcaggt	9	9	12	11	3	0	2	0	2	0	0	1	2	0	2	2	2	4	3	2	2	3	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:67160169C>T	ENST00000371036.3	+	14	1194	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.R341C|SGIP1_ENST00000237247.6_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	540	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTGAAAGGCGCTGTGAAAC	0.393													5	13					0	0	0	0	T	67160169	C	T	67160169	3	4	402	1	0	0	0	0	1	0	0	0	14293	783	27	1		1	SGIP1	1	67160169	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	15330558	67160169	182090452	4	77107											
CLCC1	23155	broad.mit.edu	37	chr1	109477475	109477475	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacaggcttggccgactgGctgctttcagtactgctttc	6	12	12	11	1	1	1	1	0	0	1	2	3	1	1	1	3	3	5	1	3	1	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:109477475G>C	ENST00000369971.2	-	11	1602	c.1473C>G	c.(1471-1473)agC>agG	p.S491R	CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.S370R|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.S441R|CLCC1_ENST00000369970.3_Missense_Mutation_p.S441R|CLCC1_ENST00000369968.2_Missense_Mutation_p.S306R|CLCC1_ENST00000369969.2_Missense_Mutation_p.S370R|CLCC1_ENST00000356970.2_Missense_Mutation_p.S491R|CLCC1_ENST00000348264.2_Missense_Mutation_p.S306R	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	491						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TGGCCGACTGGCTGCTTTCAG	0.532													29	74					0	0	0	0	C	109477475	G	C	109477475	3	2	402	1	0	0	0	0	1	0	0	0	3490	1194	42	4	186	4	CLCC1	1	109477475	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	42317306	109477475	139773146	5	77108											
RPRD2	23248	broad.mit.edu	37	chr1	150445606	150445606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggaggcagcaacagcagCagtggcccccccttgggtcc	7	4	16	14	0	0	0	0	0	0	0	1	1	1	1	4	5	4	4	4	5	1	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:150445606C>T	ENST00000401000.4	+	10	4169	c.4104C>T	c.(4102-4104)agC>agT	p.S1368S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S1394S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1394	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCAACAGCAGCAGTGGCCCCC	0.617													16	75					0	0	0	0	T	150445606	C	T	150445606	2	4	402	1	0	0	0	0	0	0	0	1	13702	709	25	4		4	RPRD2	1	150445606	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	40968131	150445606	98805015	6	77109											
SCAMP3	10067	broad.mit.edu	37	chr1	155230365	155230365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catagttcttaggttctgtgGggctgagctttctcgagggc	5	14	14	8	1	3	1	0	1	3	0	4	2	3	1	0	4	1	4	0	4	2	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:155230365G>A	ENST00000355379.3	-	2	430	c.152C>T	c.(151-153)cCc>cTc	p.P51L	SCAMP3_ENST00000302631.3_Missense_Mutation_p.P77L	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	77					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGTTCTGTGGGGCTGAGCTT	0.607													18	64					0	0	0	0	A	155230365	G	A	155230365	3	1	402	1	0	0	0	0	1	0	0	0	13958	1232	43	4	841	4	SCAMP3	1	155230365	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	4784759	155230365	94020256	7	77110											
ASTN1	460	broad.mit.edu	37	chr1	176918380	176918380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaagggcgccatctgctgGaggcacagctgctcacagcc	8	5	15	13	1	2	0	1	0	1	0	2	2	2	2	2	4	4	4	2	4	1	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:176918380G>A	ENST00000367654.2	-	12	2032	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.L665L|ASTN1_ENST00000424564.2_Silent_p.L665L|ASTN1_ENST00000367657.3_Silent_p.L665L			O14525	ASTN1_HUMAN	astrotactin 1	673	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCATCTGCTGGAGGCACAGCT	0.612											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	81					0	0	0	0	A	176918380	G	A	176918380	2	1	402	1	0	0	0	0	0	0	0	1	1068	1161	41	2		2	ASTN1	1	176918380	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	21688015	176918380	72332241	8	77111											
PTPRC	5788	broad.mit.edu	37	chr1	198668713	198668713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtttcatcagtacagacgCctcaccttcccacgcacgca	9	9	7	16	3	3	1	3	0	0	1	4	1	4	1	3	0	1	4	3	0	1	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:198668713C>T	ENST00000367376.2	+	5	484	c.313C>T	c.(313-315)Cct>Tct	p.P105S	PTPRC_ENST00000442510.2_Missense_Mutation_p.P107S|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.P105S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	105					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P105T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGTACAGACGCCTCACCTTCC	0.512											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	116					0	0	0	0	T	198668713	C	T	198668713	3	4	402	1	0	0	0	0	1	0	0	0	12879	739	26	4	338	4	PTPRC	1	198668713	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	21750333	198668713	50581908	9	77112											
CDC42BPA	8476	broad.mit.edu	37	chr1	227257552	227257552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgagtcttggtgctctaTacctagaagacagcagcaac	11	10	10	10	0	2	3	0	1	2	2	2	3	2	3	1	1	5	3	1	1	5	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:227257552T>C	ENST00000366769.3	-	21	4121	c.2830A>G	c.(2830-2832)Ata>Gta	p.I944V	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I944V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I944V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I944V|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I944V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I863V|CDC42BPA_ENST00000488131.1_5'UTR	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	944					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGGTGCTCTATACCTAGAAGA	0.358													3	20					0	0	0	0	C	227257552	T	C	227257552	3	2	402	1	0	0	0	0	1	0	0	0	3101	1406	49	5	2393	5	CDC42BPA	1	227257552	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	28588839	227257552	21993069	10	77113											
OPN3	23596	broad.mit.edu	37	chr1	241761057	241761057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaagcttacctttctgatCatgaagacataaatcactgg	14	11	7	9	0	3	3	2	2	1	1	3	3	3	3	1	1	2	2	1	1	5	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:241761057C>T	ENST00000366554.2	-	3	1042	c.936G>A	c.(934-936)atG>atA	p.M312I	OPN3_ENST00000331838.5_Missense_Mutation_p.M233I|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	312					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCTTTCTGATCATGAAGACAT	0.383													4	82					0	0	0	0	T	241761057	C	T	241761057	3	4	402	1	0	0	0	0	1	0	0	0	10952	826	29	2	280	2	OPN3	1	241761057	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	14503505	241761057	7489564	11	77114											
OR2G6	391211	broad.mit.edu	37	chr1	248685522	248685522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaactggcctgtgtggataCgactttcaacgaggcagaac	12	8	11	10	2	1	1	1	0	0	1	1	4	1	2	1	3	4	1	1	3	4	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:248685522C>T	ENST00000343414.4	+	1	607	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGTGGATACGACTTTCAAC	0.498													14	34					0	0	0	0	T	248685522	C	T	248685522	3	4	402	1	0	0	0	0	1	0	0	0	11071	536	19	1	577	1	OR2G6	1	248685522	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	6924465	248685522	565099	12	77115											
ZNF513	130557	broad.mit.edu	37	chr2	27600959	27600960	+	In_Frame_Ins	INS	-	-	AGCCTT																															ggggcagaggctacaggcaaINSagcctttgtcactggggccc																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:27600959_27600960insAGCCTT	ENST00000323703.6	-	4	1276_1277	c.1078_1079insAAGGCT	c.(1078-1080)tgc>AAGGCTtgc	p.359_360insKA	ZNF513_ENST00000407879.1_In_Frame_Ins_p.297_298insKA|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	359					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTACAGGCAAAGCCTTTGTCA	0.653													28	143	---	---	---	---					AGCCTT	27600960	-	AGCCTT	27600959	7	5	402	1	0	1	1	0	0	0	0	0	18053	14	1	0	550	0	ZNF513	2	27600959	In_Frame_Ins	INS	-	TCGA-F7-A61S-01A-11D-A28R-08		27600959	215598414	13	77116											
RTN4	57142	broad.mit.edu	37	chr2	55254030	55254030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccaacatatcactaTcttccttactatctttcact	11	14	2	14	0	4	0	2	0	2	0	5	0	5	0	2	0	4	1	2	0	5	6			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:55254030T>C	ENST00000337526.6	-	3	1448	c.1205A>G	c.(1204-1206)gAt>gGt	p.D402G	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.D196G|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.D196G|RTN4_ENST00000357376.3_Missense_Mutation_p.D196G|RTN4_ENST00000354474.6_Missense_Mutation_p.D170G|RTN4_ENST00000404909.1_Missense_Mutation_p.D196G	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	402					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATATCACTATCTTCCTTACT	0.393													36	142					0	0	0	0	C	55254030	T	C	55254030	3	2	402	1	0	0	0	0	1	0	0	0	13813	1435	50	5	2439	5	RTN4	2	55254030	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	27653071	55254030	187945343	14	77117											
VPS54	51542	broad.mit.edu	37	chr2	64147706	64147706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctaaaatgaatgtttccAttaatctagaaagtgttatg	14	16	7	4	0	2	2	0	1	2	1	3	2	3	2	1	0	0	2	1	0	7	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:64147706A>G	ENST00000354504.3	-	11	2055	c.1466T>C	c.(1465-1467)aTg>aCg	p.M489T	VPS54_ENST00000409558.3_Missense_Mutation_p.M630T|VPS54_ENST00000272322.4_Missense_Mutation_p.M642T			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	642					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GAATGTTTCCATTAATCTAGA	0.328													6	41					0	0	0	0	G	64147706	A	G	64147706	3	3	402	1	0	0	0	0	1	0	0	0	17312	217	8	5	1048	5	VPS54	2	64147706	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	8893676	64147706	179051667	15	77118											
ZNF638	27332	broad.mit.edu	37	chr2	71649996	71649996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggtgcaaacagcaactGatagtccctctgttaaacct	12	10	9	10	0	1	2	0	2	1	0	2	2	2	2	2	1	5	3	2	1	5	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:71649996G>A	ENST00000409544.1	+	22	3982	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	ZNF638_ENST00000264447.4_Missense_Mutation_p.D1118N|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.D58N	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1118	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AACAGCAACTGATAGTCCCTC	0.383													21	66					0	0	0	0	A	71649996	G	A	71649996	3	1	402	1	0	0	0	0	1	0	0	0	18150	1290	45	2	3434	2	ZNF638	2	71649996	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	7502290	71649996	171549377	16	77119											
AFF3	3899	broad.mit.edu	37	chr2	100185340	100185340	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgctttatgcttcattcGtttagcttcttgcataaaat	9	19	5	8	1	3	0	1	0	2	0	4	0	3	0	0	0	4	5	0	0	4	9			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:100185340G>A	ENST00000317233.4	-	18	3191	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.R1011*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.R986*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.R1011*	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	986					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCTTCATTCGTTTAGCTTCT	0.378													22	118					0	0	0	0	A	100185340	G	A	100185340	4	1	402	1	0	0	0	0	0	1	0	0	358	1153	40	1	752	1	AFF3	2	100185340	Nonsense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	28535344	100185340	143014033	17	77120											
TUBA3E	112714	broad.mit.edu	37	chr2	130951871	130951871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggagttgtagggctccaCcacggctgtggagacctggg	7	8	17	9	1	0	1	0	0	0	1	1	4	1	2	3	5	0	4	3	5	1	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:130951871C>T	ENST00000312988.7	-	4	644	c.544G>A	c.(544-546)Gtg>Atg	p.V182M		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	182					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TAGGGCTCCACCACGGCTGTG	0.542													10	35					0	0	0	0	T	130951871	C	T	130951871	3	4	402	1	0	0	0	0	1	0	0	0	16844	507	18	4	816	4	TUBA3E	2	130951871	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	30766531	130951871	112247502	18	77121											
TUBA3D	113457	broad.mit.edu	37	chr2	132237810	132237810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccaggtctccacagccgtgGtggagccctacaactccatc	8	7	9	17	1	1	0	0	0	1	0	4	1	2	1	5	3	4	0	5	3	2	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:132237810G>A	ENST00000321253.6	+	4	651	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	182					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CACAGCCGTGGTGGAGCCCTA	0.552													27	304					0	0	0	0	A	132237810	G	A	132237810	3	1	402	1	0	0	0	0	1	0	0	0	16843	1261	44	4	558	4	TUBA3D	2	132237810	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	1285939	132237810	110961563	19	77122											
RIF1	55183	broad.mit.edu	37	chr2	152298457	152298457	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaaaggacttcctcagaaAgtattaggttcaccagcata	15	11	7	8	0	2	1	2	0	0	1	3	2	3	2	2	2	1	3	2	2	6	6			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:152298457A>G	ENST00000243326.4	+	15	2169	c.1686A>G	c.(1684-1686)aaA>aaG	p.K562K	RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000430328.2_Silent_p.K562K|RIF1_ENST00000453091.2_Silent_p.K562K|RIF1_ENST00000444746.2_Silent_p.K562K|RIF1_ENST00000428287.2_Silent_p.K562K			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	562					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCCTCAGAAAGTATTAGGTT	0.294													7	34					0	0	0	0	G	152298457	A	G	152298457	2	3	402	1	0	0	0	0	0	0	0	1	13442	69	3	5		5	RIF1	2	152298457	Silent	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	20060647	152298457	90900916	20	77123											
XIRP2	129446	broad.mit.edu	37	chr2	168105298	168105298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaaaggatcagaaaaaaGtaatggtgatgaccagcagt	17	7	10	7	0	2	3	2	2	0	1	2	4	2	4	2	2	1	2	2	2	5	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:168105298G>A	ENST00000409195.1	+	9	7485	c.7396G>A	c.(7396-7398)Gta>Ata	p.V2466I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2466I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2244I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2291					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGAAAAAAGTAATGGTGAT	0.363													6	68					0	0	0	0	A	168105298	G	A	168105298	3	1	402	1	0	0	0	0	1	0	0	0	17526	1029	36	4	7426	4	XIRP2	2	168105298	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	15806841	168105298	75094075	21	77124											
CALCRL	10203	broad.mit.edu	37	chr2	188247925	188247925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgttgaatggggtcttgCataatcttttggtaacattc	8	17	10	6	0	2	1	0	1	2	0	3	1	2	1	0	3	2	4	0	3	3	8			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:188247925C>G	ENST00000409998.1	-	6	940	c.159G>C	c.(157-159)atG>atC	p.M53I	CALCRL_ENST00000410068.1_Missense_Mutation_p.M53I|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.M53I			Q16602	CALRL_HUMAN	calcitonin receptor-like	53						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGGGGTCTTGCATAATCTTTT	0.333													4	73					0	0	0	0	G	188247925	C	G	188247925	3	3	402	1	0	0	0	0	1	0	0	0	2605	710	25	4	1270	4	CALCRL	2	188247925	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	20142627	188247925	54951448	22	77125											
SLC39A10	57181	broad.mit.edu	37	chr2	196545000	196545001	+	Frame_Shift_Ins	INS	-	-	T																															gtgaaaatggaagattatccINSttttttggtttggagaaact																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:196545000_196545001insT	ENST00000409086.3	+	2	509_510	c.234_235insT	c.(232-237)tcttttfs	p.SF78fs	SLC39A10_ENST00000359634.5_Frame_Shift_Ins_p.SF78fs|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	78					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GAAGATTATCCTTTTTTGGTTT	0.337													15	77	---	---	---	---					T	196545001	-	T	196545000	7	5	402	1	0	1	1	0	0	0	0	0	14701	668	24	0	236	0	SLC39A10	2	196545000	Frame_Shift_Ins	INS	-	TCGA-F7-A61S-01A-11D-A28R-08	8297075	196545000	46654373	23	77126											
TRAK2	66008	broad.mit.edu	37	chr2	202248909	202248909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaatgttgagtttgtgcacGacaggcactttcctgggttg	7	14	13	7	1	0	2	0	2	0	0	1	3	1	2	1	2	1	5	1	2	1	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:202248909G>A	ENST00000332624.3	-	15	2422	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	665				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTTTGTGCACGACAGGCACTT	0.423													15	64					0	0	0	0	A	202248909	G	A	202248909	3	1	402	1	0	0	0	0	1	0	0	0	16545	1059	37	1	758	1	TRAK2	2	202248909	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	5703909	202248909	40950464	24	77127											
NBEAL1	65065	broad.mit.edu	37	chr2	204016213	204016213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatccaattcactggaagCtagctaatgtagagaattat	16	11	8	6	0	1	2	1	0	0	2	2	4	2	3	1	1	2	3	1	1	8	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:204016213C>G	ENST00000449802.1	+	34	5734	c.5401C>G	c.(5401-5403)Cta>Gta	p.L1801V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1801							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCACTGGAAGCTAGCTAATGT	0.323													8	20					0	0	0	0	G	204016213	C	G	204016213	3	3	402	1	0	0	0	0	1	0	0	0	10258	796	28	4	5531	4	NBEAL1	2	204016213	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	1767304	204016213	39183160	25	77128											
NCL	4691	broad.mit.edu	37	chr2	232320229	232320229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagccaccttcacccttagGtttggcccagtccaaggtaa	10	9	9	13	0	1	0	1	0	0	0	2	1	2	0	5	3	1	2	5	3	4	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:232320229G>A	ENST00000322723.4	-	13	2179	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	647	RRM 4.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TCACCCTTAGGTTTGGCCCAG	0.552													7	295					0	0	0	0	A	232320229	G	A	232320229	3	1	402	1	0	0	0	0	1	0	0	0	10296	1261	44	4	201	4	NCL	2	232320229	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	28304016	232320229	10879144	26	77129											
GIGYF2	26058	broad.mit.edu	37	chr2	233651923	233651923	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagcatgaatttatacgctCagaaagtgaaaattggcgca	17	9	9	6	2	1	3	1	2	0	1	1	3	1	3	0	1	2	3	0	1	7	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:233651923C>G	ENST00000373566.3	+	10	859	c.662C>G	c.(661-663)tCa>tGa	p.S221*	GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	199	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTATACGCTCAGAAAGTGAA	0.423													19	70					0	0	0	0	G	233651923	C	G	233651923	4	3	402	1	0	0	0	0	0	1	0	0	6429	838	29	2	692	2	GIGYF2	2	233651923	Nonsense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	1331694	233651923	9547450	27	77130											
INPP5D	3635	broad.mit.edu	37	chr2	234104109	234104109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagagcctcaccagccaCgaccccatgaagcagtggga	12	4	11	14	1	1	3	1	2	0	1	1	5	1	4	5	1	3	1	5	1	2	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:234104109C>T	ENST00000359570.5	+	26	2625	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	INPP5D_ENST00000455936.2_Silent_p.H639H|INPP5D_ENST00000450745.1_Silent_p.H639H			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	887					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACCAGCCACGACCCCATGA	0.557													25	99					0	0	0	0	T	234104109	C	T	234104109	2	4	402	1	0	0	0	0	0	0	0	1	7809	535	19	1		1	INPP5D	2	234104109	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	452186	234104109	9095264	28	77131											
FGD5	152273	broad.mit.edu	37	chr3	14939126	14939126	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaactcccagccatccaCgaccttcatcaaggcatcct	11	8	6	16	1	2	1	2	1	0	0	5	2	5	1	5	1	2	1	5	1	2	1	rs137983126	by1000genomes	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:14939126C>T	ENST00000285046.5	+	5	2969	c.2859C>T	c.(2857-2859)caC>caT	p.H953H	FGD5_ENST00000543601.1_Silent_p.H712H|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	953	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGCCATCCACGACCTTCATC	0.582													3	9					0	0	0	0	T	14939126	C	T	14939126	2	4	402	1	0	0	0	0	0	0	0	1	5881	535	19	1		1	FGD5	3	14939126	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		14939126	183083304	29	77132											
CCDC71	64925	broad.mit.edu	37	chr3	49200836	49200836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcagagccccctttcattCgccggacactgggggaccca	7	6	13	15	2	1	1	1	0	0	1	2	3	1	3	4	4	1	1	4	4	0	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:49200836C>T	ENST00000321895.6	-	2	912	c.806G>A	c.(805-807)cGa>cAa	p.R269Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	269										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTTTCATTCGCCGGACACT	0.632													17	67					0	0	0	0	T	49200836	C	T	49200836	3	4	402	1	0	0	0	0	1	0	0	0	2871	884	31	1	601	1	CCDC71	3	49200836	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	34261710	49200836	148821594	30	77133											
VPRBP	9730	broad.mit.edu	37	chr3	51477888	51477888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggttgatcggcctctcggGcccatttgaaaagattctcg	8	12	11	10	3	2	3	0	2	2	1	5	3	2	3	2	3	0	1	2	3	2	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:51477888G>A	ENST00000335891.5	-	5	416	c.407C>T	c.(406-408)gCc>gTc	p.A136V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	136					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGCCTCTCGGGCCCATTTGAA	0.383													3	21					0	0	0	0	A	51477888	G	A	51477888	3	1	402	1	0	0	0	0	1	0	0	0	17281	1203	42	4	4029	4	VPRBP	3	51477888	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	2277052	51477888	146544542	31	77134											
BAP1	8314	broad.mit.edu	37	chr3	52437163	52437163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaggctcaccttgggtgaGtatttctccccactcaaggg	7	10	12	12	1	3	1	2	1	1	0	4	2	3	2	3	4	0	2	3	4	2	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:52437163G>A	ENST00000460680.1	-	14	2352	c.1881C>T	c.(1879-1881)taC>taT	p.Y627Y	BAP1_ENST00000296288.5_Silent_p.Y609Y	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	627	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Y627*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTTGGGTGAGTATTTCTCCC	0.582			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							5	37					0	0	0	0	A	52437163	G	A	52437163	2	1	402	1	0	0	0	0	0	0	0	1	1315	1024	36	4		4	BAP1	3	52437163	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	959275	52437163	145585267	32	77135											
ITIH4	3700	broad.mit.edu	37	chr3	52860854	52860854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcactttcagcagcagctCgtacacccccaaacgccgct	9	6	7	19	4	1	0	1	0	0	0	2	0	1	0	4	0	5	6	4	0	2	2	rs148337590		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:52860854C>T	ENST00000266041.4	-	4	568	c.472G>A	c.(472-474)Gag>Aag	p.E158K	ITIH4_ENST00000485816.1_Missense_Mutation_p.E158K|ITIH4_ENST00000434759.3_Missense_Mutation_p.E70K|ITIH4_ENST00000406595.1_Missense_Mutation_p.E158K|ITIH4_ENST00000346281.5_Missense_Mutation_p.E158K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	158					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCAGCAGCTCGTACACCCCC	0.602													4	64					0	0	0	0	T	52860854	C	T	52860854	3	4	402	1	0	0	0	0	1	0	0	0	7959	893	31	1	2404	1	ITIH4	3	52860854	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	423691	52860854	145161576	33	77136											
ROBO2	6092	broad.mit.edu	37	chr3	77629164	77629164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatgcagccattcggtccGtaataattggtggattattc	9	14	11	7	2	0	0	0	0	0	0	3	2	1	2	2	4	2	2	2	4	3	6			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:77629164G>A	ENST00000461745.1	+	16	3295	c.2395G>A	c.(2395-2397)Gta>Ata	p.V799I	ROBO2_ENST00000487694.3_Missense_Mutation_p.V815I|ROBO2_ENST00000332191.8_Missense_Mutation_p.V799I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	799	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATTCGGTCCGTAATAATTGG	0.433													11	44					0	0	0	0	A	77629164	G	A	77629164	3	1	402	1	0	0	0	0	1	0	0	0	13599	1145	40	1	2459	1	ROBO2	3	77629164	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	24768310	77629164	120393266	34	77137											
KPNA1	3836	broad.mit.edu	37	chr3	122145946	122145946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcggtcccgaagtaatgCtcaataagatcaaaggcctt	12	11	8	10	2	3	1	2	0	1	1	5	2	4	1	2	2	1	2	2	2	5	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:122145946C>T	ENST00000344337.6	-	14	1679	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	501					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CGAAGTAATGCTCAATAAGAT	0.423													22	39					0	0	0	0	T	122145946	C	T	122145946	2	4	402	1	0	0	0	0	0	0	0	1	8481	796	28	4		4	KPNA1	3	122145946	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	44516782	122145946	75876484	35	77138											
KALRN	8997	broad.mit.edu	37	chr3	124390517	124390517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccacagcactgcaatcGcccattgagtatcaacggaa	13	8	7	13	2	1	1	1	1	0	0	3	2	2	2	2	1	3	3	2	1	5	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:124390517G>A	ENST00000360013.3	+	48	6838	c.6711G>A	c.(6709-6711)tcG>tcA	p.S2237S	KALRN_ENST00000428018.2_Silent_p.S508S|KALRN_ENST00000393496.1_Silent_p.S578S|KALRN_ENST00000291478.4_Silent_p.S540S|KALRN_ENST00000459915.1_Silent_p.S329S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2236					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACTGCAATCGCCCATTGAGT	0.532													4	105					0	0	0	0	A	124390517	G	A	124390517	2	1	402	1	0	0	0	0	0	0	0	1	8028	1074	38	1		1	KALRN	3	124390517	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	2244571	124390517	73631913	36	77139											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	8	10	14	9	3	0	2	0	1	0	1	2	5	1	3	2	2	2	1	2	2	2	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597													5	172					0	0	0	0	T	124418865	C	T	124418865	4	4	402	1	0	0	0	0	0	1	0	0	8028	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	28348	124418865	73603565	37	77140											
LRRIQ4	344657	broad.mit.edu	37	chr3	169546595	169546595	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgaagatacttggactaAcaggaaatgagttcctttcc	14	11	8	8	0	0	3	0	2	0	1	2	5	2	5	2	2	3	1	2	2	5	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:169546595A>T	ENST00000340806.6	+	2	1069	c.1069A>T	c.(1069-1071)Aca>Tca	p.T357S		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	357								p.T357P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTTGGACTAACAGGAAATGA	0.368													19	75					0	0	0	0	T	169546595	A	T	169546595	3	4	402	1	0	0	0	0	1	0	0	0	9095	43	2	5	1075	5	LRRIQ4	3	169546595	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	45127730	169546595	28475835	38	77141											
LRRC31	79782	broad.mit.edu	37	chr3	169557876	169557876	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatccatcttttcattcctAtctcagtgatctgaggaagc	10	14	7	10	0	4	2	2	2	3	0	7	4	6	3	2	1	1	0	2	1	3	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:169557876A>T	ENST00000316428.5	-	9	1610	c.1553T>A	c.(1552-1554)aTa>aAa	p.I518K	LRRC31_ENST00000264676.5_Missense_Mutation_p.I462K|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	518										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTCATTCCTATCTCAGTGAT	0.408													28	39					0	0	0	0	T	169557876	A	T	169557876	3	4	402	1	0	0	0	0	1	0	0	0	9050	449	16	5	109	5	LRRC31	3	169557876	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	11281	169557876	28464554	39	77142											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	42					0	0	0	0	G	178952085	A	G	178952085	3	3	402	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	9394209	178952085	19070345	40	77143											
PAK2	5062	broad.mit.edu	37	chr3	196509524	196509524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataattctgaatcatgtctGataacggagaactggaagat	15	11	9	6	1	3	4	1	2	2	2	3	6	3	5	0	2	2	0	0	2	5	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:196509524G>C	ENST00000327134.3	+	2	329	c.7G>C	c.(7-9)Gat>Cat	p.D3H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	3					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATCATGTCTGATAACGGAGA	0.403													13	149					0	0	0	0	C	196509524	G	C	196509524	3	2	402	1	0	0	0	0	1	0	0	0	11472	1290	45	2	9	2	PAK2	3	196509524	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	17557439	196509524	1512906	41	77144											
UGT2B10	7365	broad.mit.edu	37	chr4	69681978	69681978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtttatcctacatctttaActaaaactgaatttgagaat	16	15	4	6	0	1	2	0	2	1	1	2	3	2	2	1	0	3	1	1	0	8	7			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:69681978A>G	ENST00000265403.7	+	1	268	c.241A>G	c.(241-243)Act>Gct	p.T81A	UGT2B10_ENST00000458688.2_Missense_Mutation_p.T81A	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	81					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACATCTTTAACTAAAACTGA	0.343													33	69					0	0	0	0	G	69681978	A	G	69681978	3	3	402	1	0	0	0	0	1	0	0	0	17052	43	2	5	243	5	UGT2B10	4	69681978	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08		69681978	121472298	42	77145											
TBC1D9	23158	broad.mit.edu	37	chr4	141543531	141543531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgatggcccagtcccGgtccaggctggtgctccggg	5	7	17	12	2	0	1	0	1	0	0	3	2	3	1	4	6	1	2	4	6	1	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:141543531G>A	ENST00000442267.2	-	21	3693	c.3619C>T	c.(3619-3621)Cgg>Tgg	p.R1207W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1207						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCCCAGTCCCGGTCCAGGCTG	0.647													5	25					0	0	0	0	A	141543531	G	A	141543531	3	1	402	1	0	0	0	0	1	0	0	0	15721	1115	39	1	185	1	TBC1D9	4	141543531	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	71861553	141543531	49610745	43	77146											
FHDC1	85462	broad.mit.edu	37	chr4	153884004	153884004	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctacattcaatattacacTtggtgctccaggctgggaat	11	12	9	9	0	1	0	1	0	0	0	2	1	2	1	1	3	4	3	1	3	5	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:153884004T>A	ENST00000511601.1	+	7	1077	c.889T>A	c.(889-891)Ttg>Atg	p.L297M	FHDC1_ENST00000260008.3_Missense_Mutation_p.L297M			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	297	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AATATTACACTTGGTGCTCCA	0.368													6	37					0	0	0	0	A	153884004	T	A	153884004	3	1	402	1	0	0	0	0	1	0	0	0	5921	1606	56	5	911	5	FHDC1	4	153884004	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	12340473	153884004	37270272	44	77147											
FGG	2266	broad.mit.edu	37	chr4	155533757	155533757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgggggtgcaaggaccaaCtcatgatgtctgagtgcccg	8	8	14	11	2	2	2	1	2	1	0	3	3	3	3	3	3	3	1	3	3	2	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:155533757C>T	ENST00000404648.3	-	1	244	c.5G>A	c.(4-6)aGt>aAt	p.S2N	FGG_ENST00000407946.1_Missense_Mutation_p.S2N|FGG_ENST00000405164.1_Missense_Mutation_p.S2N|FGG_ENST00000336098.3_Missense_Mutation_p.S2N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	2					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAAGGACCAACTCATGATGTC	0.473													12	32					0	0	0	0	T	155533757	C	T	155533757	3	4	402	1	0	0	0	0	1	0	0	0	5915	565	20	4	1411	4	FGG	4	155533757	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	1649753	155533757	35620519	45	77148											
FAT1	2195	broad.mit.edu	37	chr4	187538955	187538955	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttgggggtcatcctCactcacagtccctttataga	8	11	7	15	0	3	1	3	0	0	1	5	1	5	1	4	2	0	0	4	2	2	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:187538955C>A	ENST00000441802.2	-	10	8994	c.8785G>T	c.(8785-8787)Gag>Tag	p.E2929*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2929	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGGTCATCCTCACTCACAGTC	0.468										HNSCC(5;0.00058)			15	60					1.05317e-09	1.09266e-09	1	0	A	187538955	C	A	187538955	4	1	402	1	0	0	0	0	0	1	0	0	5734	835	29	2	5053	2	FAT1	4	187538955	Nonsense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	32005198	187538955	3615321	46	77149											
FBXL7	23194	broad.mit.edu	37	chr5	15936738	15936738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccacctctacctgcgcCgctgcgtccgcctgaccgac	5	7	8	21	5	2	1	1	1	1	0	3	2	3	1	7	0	3	1	7	0	1	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:15936738C>T	ENST00000504595.1	+	4	1400	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	FBXL7_ENST00000510662.1_Missense_Mutation_p.R260C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R295C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	307					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTACCTGCGCCGCTGCGTCCG	0.647													10	35					0	0	0	0	T	15936738	C	T	15936738	3	4	402	1	0	0	0	0	1	0	0	0	5769	652	23	1	933	1	FBXL7	5	15936738	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		15936738	164978522	47	77150											
CDH10	1008	broad.mit.edu	37	chr5	24487949	24487949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcataggttgcaagtgagtcGtaggggggtgcggtggggtc	6	9	21	5	2	0	1	0	1	0	0	2	1	0	1	0	7	2	4	0	7	3	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:24487949G>A	ENST00000264463.4	-	12	2697	c.2190C>T	c.(2188-2190)taC>taT	p.Y730Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y730Y(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)		CAAGTGAGTCGTAGGGGGGTG	0.463										HNSCC(23;0.051)			32	91					0	0	0	0	A	24487949	G	A	24487949	2	1	402	1	0	0	0	0	0	0	0	1	3125	1140	40	1		1	CDH10	5	24487949	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	8551211	24487949	156427311	48	77151											
AGXT2	64902	broad.mit.edu	37	chr5	34998834	34998834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgacaatgttacttagctCttctttccatgtgttgggtt	6	19	8	8	0	3	1	0	1	3	0	4	1	4	1	1	1	2	4	1	1	3	6			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:34998834C>T	ENST00000231420.6	-	14	1735	c.1535G>A	c.(1534-1536)aGa>aAa	p.R512K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	512					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TTACTTAGCTCTTCTTTCCAT	0.388													6	37					0	0	0	0	T	34998834	C	T	34998834	3	4	402	1	0	0	0	0	1	0	0	0	405	913	32	2	13	2	AGXT2	5	34998834	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	10510885	34998834	145916426	49	77152											
MAP3K1	4214	broad.mit.edu	37	chr5	56167859	56167859	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccactgcatgtcaatttGtatgtggctctttttctccc	6	16	6	13	0	3	0	1	0	2	0	4	0	3	0	3	1	1	3	3	1	2	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:56167859G>T	ENST00000399503.3	+	7	1423		c.e7+1			NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGTCAATTTGTATGTGGCTC	0.438													14	46					4.3838e-07	4.51994e-07	1	0	T	56167859	G	T	56167859	5	4	402	1	0	0	0	0	0	0	1	0	9312	1391	48	4	1450	4	MAP3K1	5	56167859	Splice_Site	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	21169025	56167859	124747401	50	77153											
ZCCHC9	84240	broad.mit.edu	37	chr5	80600958	80600958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcggcaaagaaaaatgcaAtggtgagagcatcacttcta	17	7	10	7	1	2	2	1	1	1	2	2	3	2	2	0	2	3	3	0	2	6	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:80600958A>G	ENST00000254037.2	+	1	3537	c.382A>G	c.(382-384)Atg>Gtg	p.M128V	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.M128V|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.M128V|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.M128V			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	128							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GAAAAATGCAATGGTGAGAGC	0.373													6	52					0	0	0	0	G	80600958	A	G	80600958	3	3	402	1	0	0	0	0	1	0	0	0	17690	101	4	5	384	5	ZCCHC9	5	80600958	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	24433099	80600958	100314302	51	77154											
PCDHB6	56130	broad.mit.edu	37	chr5	140529944	140529944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgattcagtattccgtattgGaggagacagaaagtggcacg	12	9	13	7	3	1	2	1	0	0	2	2	5	2	3	1	3	0	3	1	3	3	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140529944G>A	ENST00000231136.1	+	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		36	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCGTATTGGAGGAGACAGA	0.498													16	122					0	0	0	0	A	140529944	G	A	140529944	3	1	402	1	0	0	0	0	1	0	0	0	11617	1175	41	2	108	2	PCDHB6	5	140529944	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	59928986	140529944	40385316	52	77155											
PCDHB14	56122	broad.mit.edu	37	chr5	140603673	140603673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctggtcctagatagagCtttagattatgaacaggaag	14	10	12	5	0	0	5	0	1	0	4	1	6	1	6	1	2	3	2	1	2	6	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140603673C>G	ENST00000239449.4	+	1	596	c.596C>G	c.(595-597)gCt>gGt	p.A199G	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A46G	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		199	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGATAGAGCTTTAGATTAT	0.443													19	72					0	0	0	0	G	140603673	C	G	140603673	3	3	402	1	0	0	0	0	1	0	0	0	11610	797	28	4	598	4	PCDHB14	5	140603673	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	73729	140603673	40311587	53	77156											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812419	140812419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacctggtggtagcggtggCcgcggtctcctgcgtcttcc	2	11	15	13	4	2	0	0	0	2	0	4	0	3	0	4	5	3	2	4	5	2	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140812419C>A	ENST00000252085.3	+	1	2235	c.2093C>A	c.(2092-2094)gCc>gAc	p.A698D	PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGCGGTGGCCGCGGTCTCC	0.652													58	208					7.22619e-39	7.89176e-39	1	0	A	140812419	C	A	140812419	3	1	402	1	0	0	0	0	1	0	0	0	11624	739	26	4	2095	4	PCDHGA12	5	140812419	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	208746	140812419	40102841	54	77157											
SH3TC2	79628	broad.mit.edu	37	chr5	148427438	148427438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaccttaaacagcatgCgcacctcctggtcctcattc	8	11	6	16	1	2	0	2	0	0	0	5	0	4	0	4	1	4	3	4	1	2	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:148427438C>T	ENST00000515425.1	-	3	367	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	89							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGCATGCGCACCTCCTG	0.527													4	148					0	0	0	0	T	148427438	C	T	148427438	3	4	402	1	0	0	0	0	1	0	0	0	14350	768	27	1	3660	1	SH3TC2	5	148427438	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	7615019	148427438	32487822	55	77158											
ARSI	340075	broad.mit.edu	37	chr5	149677718	149677718	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttccgccgggccacatTgcccatggtgcggtagcggt	5	9	14	13	4	0	0	0	0	0	0	1	0	1	0	4	4	4	2	4	4	2	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:149677718T>A	ENST00000328668.7	-	2	1348	c.769A>T	c.(769-771)Aat>Tat	p.N257Y		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	257						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCACATTGCCCATGGTG	0.612													19	34					0	0	0	0	A	149677718	T	A	149677718	3	1	402	1	0	0	0	0	1	0	0	0	998	1812	63	5	944	5	ARSI	5	149677718	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	1250280	149677718	31237542	56	77159											
F13A1	2162	broad.mit.edu	37	chr6	6167791	6167791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaagaagtgcagggacGcttgttccagcagctgaccc	11	7	12	11	1	0	3	0	2	0	1	1	4	1	4	2	1	3	5	2	1	2	2	rs148207995	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:6167791G>A	ENST00000264870.3	-	13	2073	c.1808C>T	c.(1807-1809)gCg>gTg	p.A603V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	603					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A603G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTGCAGGGACGCTTGTTCCAG	0.522													10	33					0	0	0	0	A	6167791	G	A	6167791	3	1	402	1	0	0	0	0	1	0	0	0	5378	1087	38	1	402	1	F13A1	6	6167791	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08		6167791	164947276	57	77160											
DHX16	8449	broad.mit.edu	37	chr6	30638812	30638812	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaccctgcttctgacttaCcctgttttcttcttcccttt	3	19	3	16	0	4	1	1	1	3	0	5	1	5	1	3	0	2	2	3	0	1	7			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:30638812C>T	ENST00000376442.3	-	2	642		c.e2+1			NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16						mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TTCTGACTTACCCTGTTTTCT	0.512													47	152					0	0	0	0	T	30638812	C	T	30638812	5	4	402	1	0	0	0	0	0	0	1	0	4539	521	18	4	2754	4	DHX16	6	30638812	Splice_Site	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	24471021	30638812	140476255	58	77161											
MDC1	9656	broad.mit.edu	37	chr6	30672770	30672770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtcttgccagaggatctaTtttttcttcccctagtagcc	6	15	9	11	0	3	1	0	0	3	1	4	2	4	2	4	2	2	1	4	2	3	8			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:30672770T>A	ENST00000376406.3	-	10	4837	c.4190A>T	c.(4189-4191)aAt>aTt	p.N1397I	MDC1_ENST00000376405.2_Missense_Mutation_p.N1133I|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1397	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGAGGATCTATTTTTTCTTCC	0.562								Other conserved DNA damage response genes					46	117					0	0	0	0	A	30672770	T	A	30672770	3	1	402	1	0	0	0	0	1	0	0	0	9472	1493	52	5	2103	5	MDC1	6	30672770	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	33958	30672770	140442297	59	77162											
C6orf89	221477	broad.mit.edu	37	chr6	36887446	36887447	+	Frame_Shift_Del	DEL	TG	TG	-																															tgccgaagacattgtcagtcTgtggccatgccaatagagcc																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:36887446_36887447delTG	ENST00000480824.2	+	8	1212_1213	c.918_919delTG	c.(916-921)tctgfs	p.SV306fs	C6orf89_ENST00000359359.2_Frame_Shift_Del_p.SV200fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.SV313fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.SV200fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.SV306fs			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	306						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ATTGTCAGTCTGTGGCCATGCC	0.485													12	62	---	---	---	---					-	36887447	TG	-	36887446	7	5	402	1	0	1	0	1	0	0	0	0	2395	1567	55	0	965	0	C6orf89	6	36887446	Frame_Shift_Del	DEL	TG	TCGA-F7-A61S-01A-11D-A28R-08	6214676	36887446	134227621	60	77163											
ENPP4	22875	broad.mit.edu	37	chr6	46108017	46108017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgggaaaatcttaatgtgAtcattacaagtgatcatggg	14	13	10	4	0	3	2	2	2	1	0	3	3	3	3	0	2	1	0	0	2	6	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:46108017A>G	ENST00000321037.4	+	2	927	c.697A>G	c.(697-699)Atc>Gtc	p.I233V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	233						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TCTTAATGTGATCATTACAAG	0.378													4	85					0	0	0	0	G	46108017	A	G	46108017	3	3	402	1	0	0	0	0	1	0	0	0	5170	333	12	5	699	5	ENPP4	6	46108017	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	9220571	46108017	125007050	61	77164											
MANEA	79694	broad.mit.edu	37	chr6	96034901	96034901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgtgtttgtgtctgtatAtatgcatataaatgattttt	10	21	8	2	0	1	1	0	1	1	0	1	1	1	1	0	0	1	3	0	0	6	8			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:96034901A>G	ENST00000369293.1	+	2	720	c.586A>G	c.(586-588)Ata>Gta	p.I196V	MANEA_ENST00000358812.4_Intron			Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	0	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		gtgtctgtatatatgcatatA	0.279													11	29					0	0	0	0	G	96034901	A	G	96034901	3	3	402	1	0	0	0	0	1	0	0	0	9290	464	16	5		5	MANEA	6	96034901	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	49926884	96034901	75080166	62	77165											
TAAR9	134860	broad.mit.edu	37	chr6	132859647	132859647	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaactttctgattgcgtcGctggcctgtgctgacttctt	6	15	9	11	2	2	2	0	2	2	0	3	2	2	2	1	1	3	2	1	1	1	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:132859647G>A	ENST00000434551.1	+	0	219					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TGATTGCGTCGCTGGCCTGTG	0.493													14	30					0	0	0	0	A	132859647	G	A	132859647	1	1	402	0	1	0	0	0	0	0	0	0	15585	1074	38	1		1	TAAR9	6	132859647	RNA	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	36824746	132859647	38255420	63	77166											
SGK1	6446	broad.mit.edu	37	chr6	134496700	134496700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccagtccgctcagcaggaAggactcgctccttttctgcg	7	9	10	15	3	2	0	1	0	1	0	5	2	4	2	3	2	2	3	3	2	1	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:134496700A>G	ENST00000413996.3	-	1	429	c.100T>C	c.(100-102)Ttc>Ctc	p.F34L	SGK1_ENST00000528577.1_Intron|SGK1_ENST00000367858.5_Intron	NM_001143678.1	NP_001137150.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTCAGCAGGAAGGACTCGCTC	0.711													3	3					0	0	0	0	G	134496700	A	G	134496700	3	3	402	1	0	0	0	0	1	0	0	0	14294	72	3	5	1365	5	SGK1	6	134496700	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	1637053	134496700	36618367	64	77167											
ECT2L	345930	broad.mit.edu	37	chr6	139202177	139202177	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgagagaaaatacgtgcaGatactggaaattgtgagaga	17	8	13	3	1	0	5	0	2	0	3	0	8	0	6	0	1	3	1	0	1	5	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:139202177G>A	ENST00000423192.1	+	14	1910	c.1749G>A	c.(1747-1749)caG>caA	p.Q583Q	ECT2L_ENST00000367682.2_Silent_p.Q583Q|ECT2L_ENST00000541398.1_Silent_p.Q514Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	583	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AATACGTGCAGATACTGGAAA	0.423			"N, Splice, Mis"		ETP ALL								16	36					0	0	0	0	A	139202177	G	A	139202177	2	1	402	1	0	0	0	0	0	0	0	1	4938	933	33	2		2	ECT2L	6	139202177	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	4705477	139202177	31912890	65	77168											
PAPOLB	56903	broad.mit.edu	37	chr7	4900349	4900349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttgaaagaagcttggagCttcaaagagtttggaccact	12	12	10	7	0	1	3	1	1	0	2	1	5	1	5	1	2	2	3	1	2	3	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:4900349C>T	ENST00000404991.1	-	1	1276	c.1090G>A	c.(1090-1092)Gct>Act	p.A364T	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	364					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGCTTGGAGCTTCAAAGAGT	0.403													23	85					0	0	0	0	T	4900349	C	T	4900349	3	4	402	1	0	0	0	0	1	0	0	0	11501	797	28	4	824	4	PAPOLB	7	4900349	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		4900349	154238314	66	77169											
C7orf49	78996	broad.mit.edu	37	chr7	134851619	134851619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggccttttcctgtttgCggctctgtggagtacgggaa	5	12	14	10	3	1	0	0	0	1	0	2	2	2	2	2	4	2	4	2	4	2	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:134851619C>T	ENST00000424142.1	-	4	655	c.53G>A	c.(52-54)cGc>cAc	p.R18H	C7orf49_ENST00000430372.1_Missense_Mutation_p.R72H|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000393114.3_Missense_Mutation_p.R73H|C7orf49_ENST00000483029.2_Missense_Mutation_p.R18H	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	73						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTCCTGTTTGCGGCTCTGTGG	0.552													4	78					0	0	0	0	T	134851619	C	T	134851619	3	4	402	1	0	0	0	0	1	0	0	0	2421	768	27	1	259	1	C7orf49	7	134851619	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	129951270	134851619	24287044	67	77170											
RAB19	401409	broad.mit.edu	37	chr7	140111745	140111745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctactaccgcagtgcccaCgcagccatcatcgcctatga	10	7	8	16	3	1	1	1	1	0	0	2	1	1	1	4	0	5	3	4	0	3	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:140111745C>T	ENST00000275874.5	+	4	612	c.414C>T	c.(412-414)caC>caT	p.H138H	RAB19_ENST00000537763.1_Silent_p.H91H|RAB19_ENST00000356407.3_Silent_p.H91H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	91					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GCAGTGCCCACGCAGCCATCA	0.562													6	114					0	0	0	0	T	140111745	C	T	140111745	2	4	402	1	0	0	0	0	0	0	0	1	12986	535	19	1		1	RAB19	7	140111745	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	5260126	140111745	19026918	68	77171											
HNF4G	3174	broad.mit.edu	37	chr8	76456182	76456182	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagggtttcttcagacgCagcattcgtaagagtcacgt	10	11	11	9	3	3	2	2	0	1	2	4	2	3	2	0	1	2	5	0	1	2	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr8:76456182C>T	ENST00000396423.2	+	2	349	c.225C>T	c.(223-225)cgC>cgT	p.R75R	HNF4G_ENST00000354370.1_Silent_p.R38R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	38					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTTCAGACGCAGCATTCGTA	0.448													22	75					0	0	0	0	T	76456182	C	T	76456182	2	4	402	1	0	0	0	0	0	0	0	1	7304	697	25	4		4	HNF4G	8	76456182	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		76456182	69907840	69	77172											
TOP1MT	116447	broad.mit.edu	37	chr8	144400209	144400209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcctgtcgaagaggtcGtcccgggggtccttgttctc	4	11	14	12	3	2	1	1	0	1	1	7	2	4	1	3	3	1	1	3	3	1	2	rs34884995	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr8:144400209G>A	ENST00000523676.1	-	10	1305	c.900C>T	c.(898-900)gaC>gaT	p.D300D	TOP1MT_ENST00000519148.1_Silent_p.D300D|TOP1MT_ENST00000329245.4_Silent_p.D398D|TOP1MT_ENST00000521193.1_Silent_p.D300D			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	398					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGAAGAGGTCGTCCCGGGGGT	0.572													25	59					0	0	0	0	A	144400209	G	A	144400209	2	1	402	1	0	0	0	0	0	0	0	1	16459	1136	40	1		1	TOP1MT	8	144400209	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	67944027	144400209	1963813	70	77173											
CER1	9350	broad.mit.edu	37	chr9	14720279	14720279	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaacagtgagagcaggAggtatgggagtgctgcgcgg	11	5	19	6	2	0	1	0	1	0	1	0	4	0	3	0	5	4	4	0	5	2	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:14720279A>T	ENST00000380911.3	-	2	657	c.613T>A	c.(613-615)Tcc>Acc	p.S205T		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	205	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGAGAGCAGGAGGTATGGGAG	0.517													17	66					0	0	0	0	T	14720279	A	T	14720279	3	4	402	1	0	0	0	0	1	0	0	0	3294	304	11	5	194	5	CER1	9	14720279	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08		14720279	126493152	71	77174											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	15					0	0	0	0	A	21971120	G	A	21971120	4	1	402	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	7250841	21971120	119242311	72	77175											
PTCH1	5727	broad.mit.edu	37	chr9	98238420	98238420	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctggctcctgtgcgctTcaggcactccccggtcctgt	3	10	11	17	3	1	0	1	0	0	0	4	0	4	0	4	3	1	4	4	3	0	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:98238420T>A	ENST00000430669.2	-	12	2011	c.1426A>T	c.(1426-1428)Aag>Tag	p.K476*	PTCH1_ENST00000418258.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.K391*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.K541*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.K476*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.K542*			Q13635	PTC1_HUMAN	patched 1	542	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCTGTGCGCTTCAGGCACTCC	0.582													7	28					0	0	0	0	A	98238420	T	A	98238420	4	1	402	1	0	0	0	0	0	1	0	0	12809	1792	62	5	2767	5	PTCH1	9	98238420	Nonsense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	76267300	98238420	42975011	73	77176											
SDCCAG3	10807	broad.mit.edu	37	chr9	139301921	139301921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagcccctgtcggatcCtcgaaaaatggctgctgata	10	9	9	13	2	1	1	1	1	0	0	4	3	2	2	4	2	2	2	4	2	3	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:139301921C>A	ENST00000298537.7	-	4	637	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDCCAG3_ENST00000357365.3_Missense_Mutation_p.E165D|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.E92D	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	165						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTGTCGGATCCTCGAAAAATG	0.607													7	21					0.0293803	0.0293803	1	0	A	139301921	C	A	139301921	3	1	402	1	0	0	0	0	1	0	0	0	14045	680	24	4	836	4	SDCCAG3	9	139301921	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	41063501	139301921	1911510	74	77177											
MPP7	143098	broad.mit.edu	37	chr10	28409159	28409159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggggatcaagcctgccCtggggttggcatcagcttcg	6	10	15	10	1	2	1	2	1	0	0	3	2	2	2	2	5	3	3	2	5	1	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:28409159C>A	ENST00000337532.5	-	11	1127	c.851G>T	c.(850-852)aGg>aTg	p.R284M	MPP7_ENST00000375732.1_Missense_Mutation_p.R284M|MPP7_ENST00000445954.2_Missense_Mutation_p.R159M|MPP7_ENST00000540098.1_Missense_Mutation_p.R284M|MPP7_ENST00000375719.3_Missense_Mutation_p.R284M	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	284	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAAGCCTGCCCTGGGGTTGGC	0.458													16	58					4.75885e-15	5.09657e-15	1	0	A	28409159	C	A	28409159	3	1	402	1	0	0	0	0	1	0	0	0	9809	681	24	4	911	4	MPP7	10	28409159	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		28409159	107125588	75	77178											
MTPAP	55149	broad.mit.edu	37	chr10	30638178	30638178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacacaggttcaaacgggtCaagagccccacgccgggaac	12	3	12	14	3	2	1	2	0	0	1	2	2	2	2	3	3	3	2	3	3	3	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:30638178C>T	ENST00000263063.3	-	1	70	c.27G>A	c.(25-27)ttG>ttA	p.L9L	MTPAP_ENST00000358107.4_Intron|MTPAP_ENST00000488290.1_Intron	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	9					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCAAACGGGTCAAGAGCCCCA	0.527													7	29					0	0	0	0	T	30638178	C	T	30638178	2	4	402	1	0	0	0	0	0	0	0	1	10026	825	29	2		2	MTPAP	10	30638178	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	2229019	30638178	104896569	76	77179											
COL17A1	1308	broad.mit.edu	37	chr10	105836188	105836188	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcctcgtgtgcttccagCtgcaagagggaaaaagcata	12	8	12	9	1	0	1	0	0	0	1	2	2	1	2	2	2	4	4	2	2	4	2	rs111607386		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:105836188C>T	ENST00000353479.5	-	5	493		c.e5-1		COL17A1_ENST00000393211.3_Splice_Site|COL17A1_ENST00000369733.3_Splice_Site	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1						cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGCTTCCAGCTGCAAGAGGG	0.527													14	93					0	0	0	0	T	105836188	C	T	105836188	5	4	402	1	0	0	0	0	0	0	1	0	3704	811	28	4	4499	4	COL17A1	10	105836188	Splice_Site	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	75198010	105836188	29698559	77	77180											
IRF7	3665	broad.mit.edu	37	chr11	613849	613849	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctggtgcggggactcTggggccgcggcctcgcctgc	1	8	17	15	4	2	0	0	0	2	0	3	1	2	1	4	6	3	0	4	6	0	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:613849T>A	ENST00000397566.1	-	6	1231	c.822A>T	c.(820-822)ccA>ccT	p.P274P	IRF7_ENST00000397574.2_Silent_p.P261P|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000330243.5_Silent_p.P274P|IRF7_ENST00000397570.1_Silent_p.P232P|IRF7_ENST00000348655.6_Silent_p.P232P|IRF7_ENST00000525445.1_Silent_p.P155P	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	261					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGGGACTCTGGGGCCGCGG	0.692													3	7					0	0	0	0	A	613849	T	A	613849	2	1	402	1	0	0	0	0	0	0	0	1	7888	1567	55	5		5	IRF7	11	613849	Silent	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08		613849	134392667	78	77181											
MRVI1	10335	broad.mit.edu	37	chr11	10622600	10622600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgttgctttcgacatgcGcttttcctgcggggaaggag	5	13	13	10	4	0	0	0	0	0	0	3	3	2	2	2	3	3	3	2	3	1	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:10622600G>A	ENST00000547195.1	-	14	2109	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C|MRVI1_ENST00000436272.1_Missense_Mutation_p.R601C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	601	Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCGACATGCGCTTTTCCTGC	0.507													55	188					0	0	0	0	A	10622600	G	A	10622600	3	1	402	1	0	0	0	0	1	0	0	0	9923	1087	38	1	884	1	MRVI1	11	10622600	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	10008751	10622600	124383916	79	77182											
EIF4G2	1982	broad.mit.edu	37	chr11	10825846	10825846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacttacggtgctttgcttCtgtcctggttgaccctctgc	3	15	9	14	1	2	1	0	1	2	0	3	1	3	1	3	2	4	3	3	2	1	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:10825846C>G	ENST00000526148.1	-	6	981	c.471G>C	c.(469-471)caG>caC	p.Q157H	EIF4G2_ENST00000339995.5_Missense_Mutation_p.Q157H|EIF4G2_ENST00000396525.2_Missense_Mutation_p.Q157H|EIF4G2_ENST00000525681.1_Missense_Mutation_p.Q157H	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	157	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGCTTTGCTTCTGTCCTGGTT	0.413													4	146					0	0	0	0	G	10825846	C	G	10825846	3	3	402	1	0	0	0	0	1	0	0	0	5075	912	32	2	2320	2	EIF4G2	11	10825846	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	203246	10825846	124180670	80	77183											
ABCC8	6833	broad.mit.edu	37	chr11	17432128	17432128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcctcttgtcgtcccGgagcagctcaaggatgccgg	6	9	12	14	3	2	0	1	0	1	0	5	2	4	2	3	3	3	2	3	3	1	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:17432128G>A	ENST00000302539.4	-	22	2757	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W	ABCC8_ENST00000389817.3_Missense_Mutation_p.R877W	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	877	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTGTCGTCCCGGAGCAGCTCA	0.577													36	109					0	0	0	0	A	17432128	G	A	17432128	3	1	402	1	0	0	0	0	1	0	0	0	58	1115	39	1	2188	1	ABCC8	11	17432128	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	6606282	17432128	117574388	81	77184											
DDB1	1642	broad.mit.edu	37	chr11	61067677	61067677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctctcgcttcataccGctgccatcgtcatactgcaa	7	11	8	15	3	3	0	2	0	1	0	5	0	3	0	3	1	4	3	3	1	3	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:61067677G>A	ENST00000301764.7	-	27	3751	c.3354C>T	c.(3352-3354)agC>agT	p.S1118S	DDB1_ENST00000538470.1_Silent_p.S165S|DDB1_ENST00000450997.2_Silent_p.S429S|DDB1_ENST00000451943.2_Silent_p.S105S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1118	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTTCATACCGCTGCCATCGT	0.602								Nucleotide excision repair (NER)					11	25					0	0	0	0	A	61067677	G	A	61067677	2	1	402	1	0	0	0	0	0	0	0	1	4355	1078	38	1		1	DDB1	11	61067677	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	43635549	61067677	73938839	82	77185											
SLC3A2	6520	broad.mit.edu	37	chr11	62656015	62656015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctggactgcaggcctcCgacctgcctgccagcgccag	5	6	13	17	3	0	0	0	0	0	0	2	2	1	1	6	3	4	2	6	3	0	0	rs143862119		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:62656015C>T	ENST00000377892.1	+	13	2060	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	SLC3A2_ENST00000535296.1_Silent_p.S550S|SLC3A2_ENST00000377891.2_Silent_p.S582S|SLC3A2_ENST00000377890.2_Silent_p.S581S|SLC3A2_ENST00000536981.1_Silent_p.S126S|SLC3A2_ENST00000377889.2_Silent_p.S519S|SLC3A2_ENST00000338663.7_Silent_p.S480S			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	581				E -> G (in Ref. 4; AAA35536).	blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGCAGGCCTCCGACCTGCCTG	0.627													29	132					0	0	0	0	T	62656015	C	T	62656015	2	4	402	1	0	0	0	0	0	0	0	1	14715	639	23	1		1	SLC3A2	11	62656015	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	1588338	62656015	72350501	83	77186											
NAALADL1	10004	broad.mit.edu	37	chr11	64815785	64815785	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacttctgtgaattccGtggagccaatgagcccaaac	11	9	8	13	1	2	2	1	2	1	0	3	3	3	3	3	1	3	0	3	1	3	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:64815785G>A	ENST00000528884.1	-	0	144				NAALADL1_ENST00000355721.3_Missense_Mutation_p.T383M|NAALADL1_ENST00000356632.3_Missense_Mutation_p.T389M|NAALADL1_ENST00000339885.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000355369.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000340252.4_Missense_Mutation_p.T475M|NAALADL1_ENST00000526799.1_De_novo_Start_InFrame|NAALADL1_ENST00000358658.3_Missense_Mutation_p.T424M			Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1						proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TGTGAATTCCGTGGAGCCAAT	0.632													24	151					0	0	0	0	A	64815785	G	A	64815785	1	1	402	1	0	0	0	0	0	0	0	0	10199	1145	40	1		1	NAALADL1	11	64815785	Translation_Start_Site	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	2159770	64815785	70190731	84	77187											
IPO8	10526	broad.mit.edu	37	chr12	30815384	30815385	+	Frame_Shift_Ins	INS	-	-	A																															caatgtgcaacagttcctgcINSataataggcctcacatgtgg																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:30815384_30815385insA	ENST00000256079.4	-	15	1969_1970	c.1631_1632insT	c.(1630-1632)acafs	p.T544fs	IPO8_ENST00000544829.1_Frame_Shift_Ins_p.T339fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	544					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACAGTTCCTGCATAATAGGCCT	0.342													10	21	---	---	---	---					A	30815385	-	A	30815384	7	5	402	1	0	1	1	0	0	0	0	0	7851	710	25	0	1525	0	IPO8	12	30815384	Frame_Shift_Ins	INS	-	TCGA-F7-A61S-01A-11D-A28R-08		30815384	103036511	85	77188											
TIMELESS	8914	broad.mit.edu	37	chr12	56818648	56818648	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcctccactggcaccTctgaggccgcatcaaaggga	8	7	11	15	1	2	1	1	1	1	0	4	2	4	2	4	3	1	4	4	3	1	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:56818648T>C	ENST00000229201.4	-	15	1917	c.1763A>G	c.(1762-1764)gAg>gGg	p.E588G	TIMELESS_ENST00000553532.1_Missense_Mutation_p.E589G|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	589					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CACTGGCACCTCTGAGGCCGC	0.577													4	135					0	0	0	0	C	56818648	T	C	56818648	3	2	402	1	0	0	0	0	1	0	0	0	15998	1551	54	5	1920	5	TIMELESS	12	56818648	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	26003264	56818648	77033247	86	77189											
MGAT4C	25834	broad.mit.edu	37	chr12	86373679	86373679	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgataaaacattaataaAaaatgggccaaacgtgggag	18	9	9	5	1	1	1	0	1	1	0	1	2	1	2	1	2	2	0	1	2	7	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:86373679A>C	ENST00000604798.1	-	8	2029	c.825T>G	c.(823-825)ttT>ttG	p.F275L	MGAT4C_ENST00000332156.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.F304L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	275					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACATTAATAAAAAATGGGCCA	0.388													8	61					0	0	0	0	C	86373679	A	C	86373679	3	2	402	1	0	0	0	0	1	0	0	0	9616	11	1	5	615	5	MGAT4C	12	86373679	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	29555031	86373679	47478216	87	77190											
ANKS1B	56899	broad.mit.edu	37	chr12	99640553	99640553	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattttcaggggactcacAggctggagaggatccatgga	10	9	15	7	0	2	1	2	0	0	1	3	6	3	5	1	7	0	1	1	7	0	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:99640553A>T	ENST00000547776.2	-	13	1845	c.1846T>A	c.(1846-1848)Tgt>Agt	p.C616S	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.C196S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.C616S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	616						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGGACTCACAGGCTGGAGAG	0.458													4	203					0	0	0	0	T	99640553	A	T	99640553	3	4	402	1	0	0	0	0	1	0	0	0	688	188	7	5	2244	5	ANKS1B	12	99640553	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	13266874	99640553	34211342	88	77191											
KDM2B	84678	broad.mit.edu	37	chr12	121880094	121880094	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggggtagcgagtcaggcggGgggctgatggggggtggccg	5	5	25	6	3	1	1	1	1	0	0	1	2	1	1	1	10	1	2	1	10	1	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:121880094G>T	ENST00000377069.4	-	18	3349	c.2943C>A	c.(2941-2943)ccC>ccA	p.P981P	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.P1050P|KDM2B_ENST00000542973.1_Silent_p.P418P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1050					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGTCAGGCGGGGGGCTGATGG	0.677													12	22					0.0167234	0.0168247	1	0	T	121880094	G	T	121880094	2	4	402	1	0	0	0	0	0	0	0	1	8178	1219	43	4		4	KDM2B	12	121880094	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	22239541	121880094	11971801	89	77192											
MTUS2	23281	broad.mit.edu	37	chr13	29599206	29599206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagatagcctgcagaccaCgcggagtattcagggaccaa	13	5	11	12	2	1	2	1	0	0	2	1	4	1	4	3	2	2	2	3	2	3	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:29599206C>T	ENST00000431530.3	+	1	459	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	124						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGCAGACCACGCGGAGTATT	0.502													24	83					0	0	0	0	T	29599206	C	T	29599206	3	4	402	1	0	0	0	0	1	0	0	0	10036	536	19	1	403	1	MTUS2	13	29599206	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		29599206	85570672	90	77193											
EDNRB	1910	broad.mit.edu	37	chr13	78492394	78492394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacaaggcaggacacaacCgtgttgatgtatttgaaagt	15	9	10	7	1	0	2	0	2	0	0	0	3	0	3	1	2	2	3	1	2	5	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:78492394C>T	ENST00000377211.4	-	2	737	c.585G>A	c.(583-585)acG>acA	p.T195T	EDNRB_ENST00000446573.1_Silent_p.T105T|EDNRB_ENST00000334286.5_Silent_p.T105T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGGACACAACCGTGTTGATGT	0.522													12	52					0	0	0	0	T	78492394	C	T	78492394	2	4	402	1	0	0	0	0	0	0	0	1	4956	639	23	1		1	EDNRB	13	78492394	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	48893188	78492394	36677484	91	77194											
FARP1	10160	broad.mit.edu	37	chr13	99099025	99099025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaagctgcacttcaagTcccacgtctactacttcagg	9	12	7	13	1	4	0	3	0	1	0	5	0	5	0	1	1	4	3	1	1	4	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:99099025T>C	ENST00000376586.2	+	27	3439	c.3103T>C	c.(3103-3105)Tcc>Ccc	p.S1035P	FARP1_ENST00000319562.6_Missense_Mutation_p.S1004P|FARP1_ENST00000595437.1_Missense_Mutation_p.S1035P			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1004					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCACTTCAAGTCCCACGTCTA	0.577													10	111					0	0	0	0	C	99099025	T	C	99099025	3	2	402	1	0	0	0	0	1	0	0	0	5721	1667	58	5	3331	5	FARP1	13	99099025	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	20606631	99099025	16070853	92	77195											
MYH6	4624	broad.mit.edu	37	chr14	23874911	23874911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaggtcagcatggcCatgtcctcaatcttgtcgaa	10	10	11	10	1	3	0	2	0	1	0	5	2	4	1	2	3	2	2	2	3	3	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:23874911C>A	ENST00000405093.3	-	4	340	c.270G>T	c.(268-270)atG>atT	p.M90I	MYH6_ENST00000356287.3_Missense_Mutation_p.M90I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	90	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAGCATGGCCATGTCCTCAA	0.577													22	93					2.89027e-11	3.01751e-11	1	0	A	23874911	C	A	23874911	3	1	402	1	0	0	0	0	1	0	0	0	10108	594	21	4	5693	4	MYH6	14	23874911	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		23874911	83474629	93	77196											
NIN	51199	broad.mit.edu	37	chr14	51206184	51206184	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggagccctgatggatgagTagctatctctggggcccagc	8	9	14	10	0	1	2	0	2	1	0	2	4	1	4	2	4	3	2	2	4	2	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:51206184T>A	ENST00000245441.5	-	26	5660	c.5470A>T	c.(5470-5472)Act>Tct	p.T1824S	NIN_ENST00000530997.2_Missense_Mutation_p.T1824S|NIN_ENST00000389868.3_Missense_Mutation_p.T1111S|NIN_ENST00000382041.3_Missense_Mutation_p.T1824S|NIN_ENST00000382043.4_Missense_Mutation_p.T1111S|NIN_ENST00000324330.9_Missense_Mutation_p.T1824S|NIN_ENST00000453196.1_Missense_Mutation_p.T1824S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1824					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GATGGATGAGTAGCTATCTCT	0.458			T	PDGFRB	MPD								23	73					0	0	0	0	A	51206184	T	A	51206184	3	1	402	1	0	0	0	0	1	0	0	0	10487	1638	57	5	1103	5	NIN	14	51206184	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	27331273	51206184	56143356	94	77197											
ITPK1	3705	broad.mit.edu	37	chr14	93428702	93428702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcttcttccactcacctCgtgagagttggtgccatgag	8	12	10	11	1	3	3	1	2	2	2	5	4	4	3	3	1	1	1	3	1	0	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:93428702C>T	ENST00000267615.6	-	7	675	c.502G>A	c.(502-504)Gag>Aag	p.E168K	ITPK1_ENST00000555495.1_Missense_Mutation_p.E49K|ITPK1_ENST00000556603.2_Missense_Mutation_p.E168K|ITPK1_ENST00000354313.3_Missense_Mutation_p.E168K|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	168	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCACTCACCTCGTGAGAGTTG	0.537													5	38					0	0	0	0	T	93428702	C	T	93428702	3	4	402	1	0	0	0	0	1	0	0	0	7969	893	31	1	810	1	ITPK1	14	93428702	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	42222518	93428702	13920838	95	77198											
ATP10A	57194	broad.mit.edu	37	chr15	25953377	25953377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggtgcgcaggccttcCgccgcatacacgttgaggta	9	7	12	13	4	0	1	0	1	0	0	1	1	1	1	3	3	2	4	3	3	3	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:25953377C>T	ENST00000356865.6	-	11	2526	c.2415G>A	c.(2413-2415)gcG>gcA	p.A805A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	805					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAGGCCTTCCGCCGCATACA	0.577													31	59					0	0	0	0	T	25953377	C	T	25953377	2	4	402	1	0	0	0	0	0	0	0	1	1120	639	23	1		1	ATP10A	15	25953377	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		25953377	76578015	96	77199											
RYR3	6263	broad.mit.edu	37	chr15	34105190	34105190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcagctgtcttccacctgGaacaggtaaggagcatctgc	10	8	11	12	0	2	0	0	0	2	0	3	2	3	2	2	3	5	4	2	3	2	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:34105190G>A	ENST00000389232.4	+	73	10454	c.10384G>A	c.(10384-10386)Gaa>Aaa	p.E3462K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3457K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3462					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCCACCTGGAACAGGTAAG	0.507													7	63					0	0	0	0	A	34105190	G	A	34105190	3	1	402	1	0	0	0	0	1	0	0	0	13855	1175	41	2	10674	2	RYR3	15	34105190	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	8151813	34105190	68426202	97	77200											
GPR176	11245	broad.mit.edu	37	chr15	40093625	40093625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggtggggcagagggcGcaaactgtggcccctgctct	6	7	17	11	1	2	1	1	0	1	1	2	1	2	1	2	6	2	3	2	6	1	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:40093625G>A	ENST00000299092.3	-	4	1451	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	GPR176_ENST00000543580.1_Missense_Mutation_p.A374V|GPR176_ENST00000561100.1_Missense_Mutation_p.A419V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			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)		GGCAGAGGGCGCAAACTGTGG	0.577													4	142					0	0	0	0	A	40093625	G	A	40093625	3	1	402	1	0	0	0	0	1	0	0	0	6722	1087	38	1	295	1	GPR176	15	40093625	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	5988435	40093625	62437767	98	77201											
PAK6	56924	broad.mit.edu	37	chr15	40566440	40566440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagccatgaagaggctccGggacagccccccacccaagc	11	2	11	17	1	0	2	0	1	0	1	1	3	1	3	6	2	3	2	6	2	3	0	rs143844489		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:40566440G>A	ENST00000560346.1	+	10	2424	c.1841G>A	c.(1840-1842)cGg>cAg	p.R614Q	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R614Q|PAK6_ENST00000453867.1_Missense_Mutation_p.R614Q|PAK6_ENST00000441369.1_Missense_Mutation_p.R614Q|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000542403.2_Missense_Mutation_p.R614Q			Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	614	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGAGGCTCCGGGACAGCCCC	0.577											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	104					0	0	0	0	A	40566440	G	A	40566440	3	1	402	1	0	0	0	0	1	0	0	0	11475	1116	39	1	1867	1	PAK6	15	40566440	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	472815	40566440	61964952	99	77202											
SPINT1	6692	broad.mit.edu	37	chr15	41149144	41149144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggacacggagcacctgGtctataaccacaccacgcgg	11	4	11	15	4	1	0	0	0	1	0	1	3	1	2	4	4	2	1	4	4	2	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:41149144G>T	ENST00000344051.4	+	11	1795	c.1561G>T	c.(1561-1563)Gtc>Ttc	p.V521F	SPINT1_ENST00000431806.1_Missense_Mutation_p.V505F|SPINT1_ENST00000562057.1_Missense_Mutation_p.V505F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	521						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGCACCTGGTCTATAACCA	0.622													23	185					5.45024e-15	5.79961e-15	1	0	T	41149144	G	T	41149144	3	4	402	1	0	0	0	0	1	0	0	0	15158	1261	44	4	1599	4	SPINT1	15	41149144	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	582704	41149144	61382248	100	77203											
UNC13C	440279	broad.mit.edu	37	chr15	54542533	54542533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccacctactgttatgaGtgtgaagggctcctgtgggg	8	10	13	10	0	0	2	0	2	0	0	1	2	1	2	3	3	1	2	3	3	3	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:54542533G>A	ENST00000545554.1	+	7	3339	c.3339G>A	c.(3337-3339)gaG>gaA	p.E1113E	UNC13C_ENST00000537900.1_Silent_p.E1111E|UNC13C_ENST00000260323.11_Silent_p.E1113E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1113					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTGTTATGAGTGTGAAGGGC	0.507													16	39					0	0	0	0	A	54542533	G	A	54542533	2	1	402	1	0	0	0	0	0	0	0	1	17082	1020	36	4		4	UNC13C	15	54542533	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	13393389	54542533	47988859	101	77204											
PRTG	283659	broad.mit.edu	37	chr15	55929437	55929437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatataagatagtatagcGggtcacaactgtttctgggc	11	12	11	7	1	2	1	1	0	1	1	2	1	2	1	0	2	3	3	0	2	6	6			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:55929437G>C	ENST00000389286.4	-	15	2601	c.2554C>G	c.(2554-2556)Cgc>Ggc	p.R852G		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	852	Fibronectin type-III 5.				multicellular organismal development	integral to membrane		p.R852S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATAGTATAGCGGGTCACAACT	0.473													13	139					0	0	0	0	C	55929437	G	C	55929437	3	2	402	1	0	0	0	0	1	0	0	0	12717	1116	39	3	922	3	PRTG	15	55929437	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	1386904	55929437	46601955	102	77205											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499631	59499631	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtccagcgaaatgtggcCatcttcaagttaatgatttc	11	14	8	8	1	2	1	1	1	1	0	4	2	3	1	2	1	1	1	2	1	4	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:59499631C>T	ENST00000307144.4	+	1	590	c.492C>T	c.(490-492)gcC>gcT	p.A164A	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	164					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GAAATGTGGCCATCTTCAAGT	0.423													39	115					0	0	0	0	T	59499631	C	T	59499631	2	4	402	1	0	0	0	0	0	0	0	1	8753	581	21	4		4	LDHAL6B	15	59499631	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	3570194	59499631	43031761	103	77206											
CCNF	899	broad.mit.edu	37	chr16	2483041	2483041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccaggagctgtggccgtCtccagggaacctgaagctct	7	9	12	13	1	2	1	0	1	2	0	4	3	3	3	4	3	3	2	4	3	2	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:2483041C>T	ENST00000397066.4	+	3	339	c.251C>T	c.(250-252)tCt>tTt	p.S84F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	84					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGTGGCCGTCTCCAGGGAAC	0.592													7	23					0	0	0	0	T	2483041	C	T	2483041	3	4	402	1	0	0	0	0	1	0	0	0	2951	913	32	2	261	2	CCNF	16	2483041	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08		2483041	87871712	104	77207											
ACSM3	6296	broad.mit.edu	37	chr16	20803433	20803433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttgcaagagcagatgAtgtcatattatcctctgggt	9	15	11	6	0	2	3	1	1	1	2	3	3	3	3	1	1	2	4	1	1	3	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:20803433A>T	ENST00000289416.5	+	11	1911	c.1436A>T	c.(1435-1437)gAt>gTt	p.D479V	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.D471V|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	479					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGAGCAGATGATGTCATATTA	0.398													46	108					0	0	0	0	T	20803433	A	T	20803433	3	4	402	1	0	0	0	0	1	0	0	0	185	333	12	5	1567	5	ACSM3	16	20803433	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	18320392	20803433	69551320	105	77208											
SULT1A1	6817	broad.mit.edu	37	chr16	28620068	28620068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcaggtcatcaggccGggcctggaagctctgcaggg	8	6	17	10	1	3	1	2	1	1	0	3	3	3	2	2	5	3	3	2	5	1	0	rs148045936	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:28620068G>A	ENST00000395609.1	-	4	867	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SULT1A1_ENST00000569554.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R37W|SULT1A1_ENST00000395607.1_Missense_Mutation_p.R37W			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	37			R -> Q.		3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TCATCAGGCCGGGCCTGGAAG	0.652													19	77					0	0	0	0	A	28620068	G	A	28620068	3	1	402	1	0	0	0	0	1	0	0	0	15462	1115	39	1	806	1	SULT1A1	16	28620068	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	7816635	28620068	61734685	106	77209											
ZFPM1	161882	broad.mit.edu	37	chr16	88601258	88601258	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcccagcaagggcacGccggcgccgctgcccaacgg	8	2	13	18	5	0	1	0	0	0	1	1	1	1	1	4	3	3	3	4	3	2	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:88601258G>T	ENST00000319555.3	+	10	3214	c.2892G>T	c.(2890-2892)acG>acT	p.T964T		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	964					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	p.T964T(1)|p.T964fs*39(1)		central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCAAGGGCACGCCGGCGCCGC	0.701													21	43					2.37509e-13	2.49535e-13	1	0	T	88601258	G	T	88601258	2	4	402	1	0	0	0	0	0	0	0	1	17752	1074	38	3		3	ZFPM1	16	88601258	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	59981190	88601258	1753495	107	77210											
ANKRD11	29123	broad.mit.edu	37	chr16	89347680	89347680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctgtcgaaaaaggaggggGagcaggcgctggtgggagcg	10	4	20	7	3	0	0	0	0	0	0	1	4	0	3	1	6	2	2	1	6	2	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:89347680G>A	ENST00000301030.4	-	9	5730	c.5270C>T	c.(5269-5271)tCc>tTc	p.S1757F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1757F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1757						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGGAGGGGGAGCAGGCGCT	0.652													24	90					0	0	0	0	A	89347680	G	A	89347680	3	1	402	1	0	0	0	0	1	0	0	0	639	1174	41	2	2741	2	ANKRD11	16	89347680	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	746422	89347680	1007073	108	77211											
TUSC5	286753	broad.mit.edu	37	chr17	1198837	1198837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcccggaggctgggccGcctggctcggctgctcagca	3	5	17	16	5	1	0	1	0	0	0	2	1	1	1	3	6	2	5	3	6	0	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:1198837G>A	ENST00000333813.3	+	2	779	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	147					response to biotic stimulus	integral to membrane		p.R147H(1)|p.R147L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCTGGGCCGCCTGGCTCGG	0.622													29	195					0	0	0	0	A	1198837	G	A	1198837	3	1	402	1	0	0	0	0	1	0	0	0	16875	1087	38	1	446	1	TUSC5	17	1198837	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08		1198837	79996373	109	77212											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			30	46					0	0	0	0	T	7577538	C	T	7577538	3	4	402	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	6378701	7577538	73617672	110	77213											
TP53	7157	broad.mit.edu	37	chr17	7579359	7579359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcaagaagcccagacGgaaaccgtagctgccctggt	13	5	12	11	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:7579359G>A	ENST00000420246.2	-	4	460	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	TP53_ENST00000269305.4_Missense_Mutation_p.R110C|TP53_ENST00000455263.2_Missense_Mutation_p.R110C|TP53_ENST00000445888.2_Missense_Mutation_p.R110C|TP53_ENST00000413465.2_Missense_Mutation_p.R110C|TP53_ENST00000359597.4_Missense_Mutation_p.R110C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110fs*13(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		AAGCCCAGACGGAAACCGTAG	0.607		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)			5	136					0	0	0	0	A	7579359	G	A	7579359	3	1	402	1	0	0	0	0	1	0	0	0	16476	1116	39	1	974	1	TP53	17	7579359	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	1821	7579359	73615851	111	77214											
MPRIP	23164	broad.mit.edu	37	chr17	17062109	17062109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggatgcagccctgcgCatggaggtggaccggagccc	8	5	16	12	2	0	1	0	1	0	0	0	5	0	5	3	5	4	2	3	5	0	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:17062109C>T	ENST00000395811.5	+	14	1928	c.1839C>T	c.(1837-1839)cgC>cgT	p.R613R	MPRIP_ENST00000444976.1_Silent_p.R575R|MPRIP_ENST00000395804.3_Silent_p.R613R|MPRIP_ENST00000341712.4_Silent_p.R613R	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	613	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAGCCCTGCGCATGGAGGTGG	0.662													56	49					0	0	0	0	T	17062109	C	T	17062109	2	4	402	1	0	0	0	0	0	0	0	1	9813	697	25	4		4	MPRIP	17	17062109	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	9482750	17062109	64133101	112	77215											
KIF2B	84643	broad.mit.edu	37	chr17	51900872	51900872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagaaactgcaggagcagCgggaaaagcgcaggcggctg	12	3	16	10	3	0	1	0	0	0	1	1	3	1	3	1	4	5	4	1	4	3	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:51900872C>T	ENST00000268919.4	+	1	634	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	160					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGGAGCAGCGGGAAAAGCG	0.552													38	80					0	0	0	0	T	51900872	C	T	51900872	3	4	402	1	0	0	0	0	1	0	0	0	8349	759	27	1	480	1	KIF2B	17	51900872	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	34838763	51900872	29294338	113	77216											
RFNG	5986	broad.mit.edu	37	chr17	80009484	80009484	+	Frame_Shift_Del	DEL	G	G	-																															acgtcgtcaggccgcaggctGggggcagcgggccgggacgg																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:80009484delG	ENST00000310496.4	-	1	166	c.159delC	c.(157-159)ccfs	p.P53fs	GPS1_ENST00000583983.1_Intron	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	53					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCCGCAGGCTgggggcagcgg	0.801													2	4	---	---	---	---					-	80009484	G	-	80009484	7	5	402	1	0	1	0	1	0	0	0	0	13334	1335	47	0	868	0	RFNG	17	80009484	Frame_Shift_Del	DEL	G	TCGA-F7-A61S-01A-11D-A28R-08	28108612	80009484	1185726	114	77217											
MC2R	4158	broad.mit.edu	37	chr18	13884807	13884807	+	Frame_Shift_Del	DEL	A	A	-																															aatgtcatcaagaggacatgAagcacaaagggggcccagca																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:13884807delA	ENST00000327606.3	-	2	891	c.711delT	c.(709-711)ctfs	p.L237fs		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	237					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGAGGACATGAAGCACAAAGG	0.547													23	72	---	---	---	---					-	13884807	A	-	13884807	7	5	402	1	0	1	0	1	0	0	0	0	9433	233	9	0	186	0	MC2R	18	13884807	Frame_Shift_Del	DEL	A	TCGA-F7-A61S-01A-11D-A28R-08		13884807	64192441	115	77218											
ZNF24	7572	broad.mit.edu	37	chr18	32917661	32917661	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattgagagtgccaggaacTtcatgggattctaatgctga	12	12	11	6	0	2	2	1	2	1	1	2	5	2	4	1	2	3	1	1	2	3	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:32917661T>G	ENST00000261332.6	-	4	821	c.642A>C	c.(640-642)gaA>gaC	p.E214D	ZNF24_ENST00000399061.3_Missense_Mutation_p.E214D|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	214					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGCCAGGAACTTCATGGGATT	0.403													36	89					0	0	0	0	G	32917661	T	G	32917661	3	3	402	1	0	0	0	0	1	0	0	0	17887	1606	56	5	468	5	ZNF24	18	32917661	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08	19032854	32917661	45159587	116	77219											
PHLPP1	23239	broad.mit.edu	37	chr18	60609124	60609124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagatccttcacatggcctAtaaccgacttcagagttttc	11	12	7	11	1	2	2	2	0	0	2	4	4	3	2	3	1	1	1	3	1	3	6			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:60609124A>G	ENST00000400316.4	+	11	3379	c.1598A>G	c.(1597-1599)tAt>tGt	p.Y533C	PHLPP1_ENST00000262719.5_Missense_Mutation_p.Y1045C	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1045					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CACATGGCCTATAACCGACTT	0.413													14	38					0	0	0	0	G	60609124	A	G	60609124	3	3	402	1	0	0	0	0	1	0	0	0	11926	449	16	5	3176	5	PHLPP1	18	60609124	Missense_Mutation	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08	27691463	60609124	17468124	117	77220											
MED16	10025	broad.mit.edu	37	chr19	881689	881689	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgataggatccgccatttGagaattgtgggctgtttgtc	7	13	13	8	2	0	1	0	1	0	1	2	4	1	2	3	2	0	2	3	2	2	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:881689G>C	ENST00000312090.6	-	7	1161	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	MED16_ENST00000325464.1_Silent_p.L337L|MED16_ENST00000269814.4_Silent_p.L337L|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.L337L|MED16_ENST00000589119.1_Silent_p.L337L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	337					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCCATTTGAGAATTGTGG	0.572													9	95					0	0	0	0	C	881689	G	C	881689	2	2	402	1	0	0	0	0	0	0	0	1	9503	1277	45	2		2	MED16	19	881689	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08		881689	58247294	118	77221											
TCF3	6929	broad.mit.edu	37	chr19	1615665	1615666	+	Frame_Shift_Ins	INS	-	-	CCGA																															tggggtgagggtggggagtgINSccgaggggtgggttggcacc																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:1615665_1615666insCCGA	ENST00000395423.3	-	14	1479_1480	c.1452_1453insTCGG	c.(1450-1455)cgactcfs	p.L485fs	TCF3_ENST00000588136.1_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000344749.5_Intron			P15923	TFE2_HUMAN	transcription factor 3	528					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GGTGGGGAGTGCCGAGGGGTGG	0.693			T	"PBX1, HLF, TFPT"	pre B-ALL								17	64	---	---	---	---					CCGA	1615666	-	CCGA	1615665	7	5	402	1	0	1	1	0	0	0	0	0	15788	1334	46	0		0	TCF3	19	1615665	Frame_Shift_Ins	INS	-	TCGA-F7-A61S-01A-11D-A28R-08	733976	1615665	57513318	119	77222											
PGLYRP1	8993	broad.mit.edu	37	chr19	46522516	46522516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagggggagcggtagtgtgGccaattctggatgaggtggt	7	10	19	5	1	2	1	1	1	1	0	2	3	2	3	1	7	1	1	1	7	2	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:46522516G>A	ENST00000008938.4	-	3	614	c.571C>T	c.(571-573)Cca>Tca	p.P191S	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	191					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGGTAGTGTGGCCAATTCTGG	0.572													11	38					0	0	0	0	A	46522516	G	A	46522516	3	1	402	1	0	0	0	0	1	0	0	0	11865	1203	42	4	23	4	PGLYRP1	19	46522516	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	44906851	46522516	12606467	120	77223											
ZNF615	284370	broad.mit.edu	37	chr19	52497257	52497257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgatgtgcagtaagacGcctcttctcaatgaagcctt	10	12	9	10	2	2	3	1	2	2	1	4	4	2	3	2	0	2	2	2	0	3	3			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:52497257G>A	ENST00000602063.1	-	6	1421	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	ZNF615_ENST00000598071.1_Missense_Mutation_p.R369C|ZNF615_ENST00000594083.1_Missense_Mutation_p.R369C|ZNF615_ENST00000391795.3_Missense_Mutation_p.R363C|ZNF615_ENST00000376716.5_Missense_Mutation_p.R358C			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGTAAGACGCCTCTTCTCA	0.388													20	58					0	0	0	0	A	52497257	G	A	52497257	3	1	402	1	0	0	0	0	1	0	0	0	18135	1087	38	1	1127	1	ZNF615	19	52497257	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	5974741	52497257	6631726	121	77224											
NINL	22981	broad.mit.edu	37	chr20	25456763	25456763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttggtttccatgtcatccTtctctctctccagcgctatt	4	18	6	13	1	3	0	1	0	2	0	8	0	6	0	3	1	1	3	3	1	1	5			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:25456763T>C	ENST00000278886.6	-	17	3237	c.3164A>G	c.(3163-3165)aAg>aGg	p.K1055R	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1055					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CATGTCATCCTTCTCTCTCTC	0.542													53	65					0	0	0	0	C	25456763	T	C	25456763	3	2	402	1	0	0	0	0	1	0	0	0	10490	1609	56	5	1016	5	NINL	20	25456763	Missense_Mutation	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08		25456763	37568757	122	77225											
CD40	958	broad.mit.edu	37	chr20	44751845	44751845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctgctttcgaaaaatgtCacccttggacaaggtataag	13	11	8	9	1	2	0	1	0	1	0	3	2	2	1	1	2	1	2	1	2	5	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:44751845C>T	ENST00000372285.3	+	5	556	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.H162Y	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	162					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CGAAAAATGTCACCCTTGGAC	0.547									Immune Deficiency with Hyper-IgM				85	135					0	0	0	0	T	44751845	C	T	44751845	3	4	402	1	0	0	0	0	1	0	0	0	3044	826	29	2	502	2	CD40	20	44751845	Missense_Mutation	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	19295082	44751845	18273675	123	77226											
PTGIS	5740	broad.mit.edu	37	chr20	48124481	48124481	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcggatgcggtagcggacGggcacgtcgtgttccggctg	4	7	20	10	7	0	0	0	0	0	0	2	2	1	2	1	6	2	4	1	6	1	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:48124481G>C	ENST00000244043.4	-	10	1508	c.1479C>G	c.(1477-1479)ccC>ccG	p.P493P	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	493					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTAGCGGACGGGCACGTCGT	0.622													18	57					0	0	0	0	C	48124481	G	C	48124481	2	2	402	1	0	0	0	0	0	0	0	1	12832	1103	39	3		3	PTGIS	20	48124481	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	3372636	48124481	14901039	124	77227											
STMN3	50861	broad.mit.edu	37	chr20	62273569	62273570	+	Frame_Shift_Ins	INS	-	-	T																															cctggcggctgaagttgttaINSttctcctccagcgccttgtg																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:62273569_62273570insT	ENST00000370053.1	-	4	455_456	c.374_375insA	c.(373-375)aaafs	p.K125fs	STMN3_ENST00000540534.1_Frame_Shift_Ins_p.K114fs	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	125					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TGAAGTTGTTATTCTCCTCCAG	0.678													8	43	---	---	---	---					T	62273570	-	T	62273569	7	5	402	1	0	1	1	0	0	0	0	0	15400	446	16	0	175	0	STMN3	20	62273569	Frame_Shift_Ins	INS	-	TCGA-F7-A61S-01A-11D-A28R-08	14149088	62273569	751951	125	77228											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													5	65					0	0	0	0	C	11058353	T	C	11058353	1	2	402	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-F7-A61S-01A-11D-A28R-08		11058353	37071542	126	77229											
C21orf91	54149	broad.mit.edu	37	chr21	19169235	19169235	+	Frame_Shift_Del	DEL	A	A	-																															ggggtttttagaacattcagAatctgaatccagatccttat																										TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr21:19169235delA	ENST00000284881.4	-	3	418	c.328delT	c.(328-330)ctfs	p.S110fs	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.S110fs|C21orf91_ENST00000400558.3_Frame_Shift_Del_p.S110fs	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	110										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GAACATTCAGAATCTGAATCC	0.343													19	80	---	---	---	---					-	19169235	A	-	19169235	7	5	402	1	0	1	0	1	0	0	0	0	2154	246	9	0	577	0	C21orf91	21	19169235	Frame_Shift_Del	DEL	A	TCGA-F7-A61S-01A-11D-A28R-08	8110882	19169235	28960660	127	77230											
GAS2L1	10634	broad.mit.edu	37	chr22	29704529	29704529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgctggaggtggcgcGgcgtggggcacgcctgggcc	2	6	21	12	4	0	0	0	0	0	0	0	1	0	1	3	7	2	2	3	7	0	0			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:29704529G>A	ENST00000471961.1	+	1	1482	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	GAS2L1_ENST00000407854.1_Missense_Mutation_p.R145Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R145Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R145Q			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	145	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GAGGTGGCGCGGCGTGGGGCA	0.677													8	12					0	0	0	0	A	29704529	G	A	29704529	3	1	402	1	0	0	0	0	1	0	0	0	6295	1116	39	1	436	1	GAS2L1	22	29704529	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08		29704529	21600037	128	77231											
ALG12	79087	broad.mit.edu	37	chr22	50297857	50297857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgacttggagaaaccgaGacacacctgtctgggcggct	9	9	13	10	2	1	3	0	1	1	2	1	5	1	3	2	3	1	2	2	3	1	2			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:50297857G>T	ENST00000330817.5	-	9	1481	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	403					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAAACCGAGACACACCTGT	0.652													10	40					0.000673444	0.000681657	1	0	T	50297857	G	T	50297857	3	4	402	1	0	0	0	0	1	0	0	0	514	942	33	2	266	2	ALG12	22	50297857	Missense_Mutation	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	20593328	50297857	1006709	129	77232											
DMD	1756	broad.mit.edu	37	chrX	32486771	32486771	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgacatctctttcacAgtggtgctgagatagtatag	9	15	9	8	1	3	1	1	1	2	1	5	3	3	1	0	1	1	2	0	1	3	6			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:32486771A>T	ENST00000357033.4	-	23	3212	c.3006T>A	c.(3004-3006)acT>acA	p.T1002T	DMD_ENST00000378677.2_Silent_p.T998T	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	1002					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			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)				TCTCTTTCACAGTGGTGCTGA	0.393													12	7					0	0	0	0	T	32486771	A	T	32486771	2	4	402	1	0	0	0	0	0	0	0	1	4617	175	7	5		5	DMD	23	32486771	Silent	SNP	A	TCGA-F7-A61S-01A-11D-A28R-08		32486771	122783789	130	77233											
FAM47B	170062	broad.mit.edu	37	chrX	34962046	34962046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacgggctcgttgtgagggCcaggagatgacaaccgagga	10	5	17	9	3	0	3	0	2	0	1	1	6	0	4	2	4	1	3	2	4	1	1			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:34962046C>T	ENST00000329357.5	+	1	1134	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	366										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTTGTGAGGGCCAGGAGATGA	0.547													25	13					0	0	0	0	T	34962046	C	T	34962046	2	4	402	1	0	0	0	0	0	0	0	1	5617	726	26	4		4	FAM47B	23	34962046	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	2475275	34962046	120308514	131	77234											
KIAA2022	340533	broad.mit.edu	37	chrX	73963630	73963630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaccccaatcctgattGgaatttgcaagcaaagcttc	14	10	7	10	0	0	1	0	1	0	0	2	2	1	2	3	1	4	4	3	1	6	4			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:73963630G>A	ENST00000373468.1	-	3	1413	c.762C>T	c.(760-762)tcC>tcT	p.S254S	KIAA2022_ENST00000055682.5_Silent_p.S254S			Q5QGS0	K2022_HUMAN	KIAA2022	254					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATCCTGATTGGAATTTGCAA	0.403													4	78					0	0	0	0	A	73963630	G	A	73963630	2	1	402	1	0	0	0	0	0	0	0	1	8320	1335	47	4		4	KIAA2022	23	73963630	Silent	SNP	G	TCGA-F7-A61S-01A-11D-A28R-08	39001584	73963630	81306930	132	77235											
ZDHHC15	158866	broad.mit.edu	37	chrX	74670662	74670662	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagttcttgtgtaaacCggtagctttttggccatatc	7	16	8	10	1	1	0	0	0	1	0	3	0	2	0	3	2	2	4	3	2	4	8			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:74670662C>T	ENST00000541184.1	-	3	804	c.327G>A	c.(325-327)ccG>ccA	p.P109P	ZDHHC15_ENST00000373367.3_Silent_p.P118P|ZDHHC15_ENST00000373361.3_Silent_p.P118P	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	118						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTGTGTAAACCGGTAGCTTTT	0.453													9	29					0	0	0	0	T	74670662	C	T	74670662	2	4	402	1	0	0	0	0	0	0	0	1	17700	639	23	1		1	ZDHHC15	23	74670662	Silent	SNP	C	TCGA-F7-A61S-01A-11D-A28R-08	707032	74670662	80599898	133	77236											
TAS1R2	80834	broad.mit.edu	37	chr1	19181360	19181360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgatccagttccagcGgaagtgcagcatcagctgca	12	7	10	12	1	1	1	1	1	0	0	3	2	3	2	2	1	5	5	2	1	2	1	rs145050419		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:19181360G>A	ENST00000375371.3	-	3	625	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	202					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.R202C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGTTCCAGCGGAAGTGCAGC	0.642													15	26					0	0	0	0	A	19181360	G	A	19181360	3	1	403	1	0	0	0	0	1	0	0	0	15654	1116	39	1	1931	1	TAS1R2	1	19181360	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08		19181360	230069261	1	77237											
CAPZB	832	broad.mit.edu	37	chr1	19670881	19670881	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgatatcctttgttttTccaaagtagatctcgttcag	9	17	7	8	2	2	2	1	1	1	1	5	3	4	2	2	0	0	3	2	0	3	7			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:19670881T>A	ENST00000401084.2	-	8	835	c.702A>T	c.(700-702)ggA>ggT	p.G234G	CAPZB_ENST00000264202.6_Silent_p.G234G|CAPZB_ENST00000375142.1_Silent_p.G234G|CAPZB_ENST00000375144.1_Silent_p.G222G|CAPZB_ENST00000433834.1_Silent_p.G263G|CAPZB_ENST00000264203.3_Intron	NM_004930.3	NP_004921.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	234					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CCTTTGTTTTTCCAAAGTAGA	0.483											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	56					0	0	0	0	A	19670881	T	A	19670881	2	1	403	1	0	0	0	0	0	0	0	1	2668	1770	62	5		5	CAPZB	1	19670881	Silent	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08	489521	19670881	229579740	2	77238											
LUZP1	7798	broad.mit.edu	37	chr1	23415528	23415528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtagacactgagtgtacAgtcttccccttcttcctcct	6	14	6	15	0	2	2	0	1	2	1	5	2	5	2	5	0	1	2	5	0	2	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:23415528A>G	ENST00000302291.4	-	5	3892	c.3091T>C	c.(3091-3093)Tgt>Cgt	p.C1031R	LUZP1_ENST00000418342.1_Missense_Mutation_p.C1031R|LUZP1_ENST00000374623.3_Missense_Mutation_p.C1031R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1031						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTGAGTGTACAGTCTTCCCCT	0.552													31	110					0	0	0	0	G	23415528	A	G	23415528	3	3	403	1	0	0	0	0	1	0	0	0	9150	188	7	5	143	5	LUZP1	1	23415528	Missense_Mutation	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08	3744647	23415528	225835093	3	77239											
RSPO1	284654	broad.mit.edu	37	chr1	38079439	38079439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgtcagagcaggcagCatggtcccccacaggggcat	8	7	14	12	0	1	1	1	0	0	1	2	1	2	1	2	5	2	4	2	5	0	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:38079439C>A	ENST00000356545.2	-	7	1349	c.562G>T	c.(562-564)Gct>Tct	p.A188S	RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.A161S|RSPO1_ENST00000401068.1_Missense_Mutation_p.A188S|RSPO1_ENST00000401069.1_Missense_Mutation_p.A188S	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	188	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCAGGCAGCATGGTCCCCC	0.667													17	61					1.15088e-07	1.25877e-07	1	0	A	38079439	C	A	38079439	3	1	403	1	0	0	0	0	1	0	0	0	13794	710	25	4	237	4	RSPO1	1	38079439	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	14663911	38079439	211171182	4	77240											
PDE4DIP	9659	broad.mit.edu	37	chr1	144994657	144994657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctccaggaagtagatGcgcagcttgaggctgaagtt	9	9	13	10	2	0	3	0	2	0	1	2	4	2	4	2	2	2	6	2	2	3	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:144994657G>T	ENST00000369359.4	-	4	524	c.486C>A	c.(484-486)cgC>cgA	p.R162R	PDE4DIP_ENST00000369347.4_Silent_p.R25R|PDE4DIP_ENST00000369348.3_Silent_p.R162R|PDE4DIP_ENST00000369349.3_Silent_p.R25R|PDE4DIP_ENST00000369351.3_Silent_p.R25R|PDE4DIP_ENST00000530740.1_Silent_p.R162R|PDE4DIP_ENST00000369354.3_Silent_p.R25R|PDE4DIP_ENST00000369356.4_Silent_p.R25R|PDE4DIP_ENST00000313382.9_Silent_p.R91R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	25					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R25R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGTAGATGCGCAGCTTGA	0.582			T	PDGFRB	MPD								22	168					1.10923e-09	1.25236e-09	1	0	T	144994657	G	T	144994657	2	4	403	1	0	0	0	0	0	0	0	1	11714	1306	46	4		4	PDE4DIP	1	144994657	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	106915218	144994657	104255964	5	77241											
FLG	2312	broad.mit.edu	37	chr1	152280521	152280521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgatgggacctggggtGtctggagccatctcttgact	5	13	14	9	1	2	2	0	2	2	0	4	4	2	4	2	4	1	0	2	4	0	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:152280521G>T	ENST00000368799.1	-	3	6876	c.6841C>A	c.(6841-6843)Cac>Aac	p.H2281N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2281	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTGGGGTGTCTGGAGCCA	0.552									Ichthyosis				15	445					3.27435e-08	3.66727e-08	1	0	T	152280521	G	T	152280521	3	4	403	1	0	0	0	0	1	0	0	0	5967	1377	48	4	5348	4	FLG	1	152280521	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	7285864	152280521	96970100	6	77242											
ATP1A2	477	broad.mit.edu	37	chr1	160109760	160109760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgaaagctcatcctgcGgcggtatcctggtggtaagc	7	9	14	11	3	1	0	1	0	0	0	4	1	4	0	3	5	3	3	3	5	3	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:160109760G>A	ENST00000361216.3	+	22	3109	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R996Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1007P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCATCCTGCGGCGGTATCCT	0.587													31	67					0	0	0	0	A	160109760	G	A	160109760	3	1	403	1	0	0	0	0	1	0	0	0	1133	1116	39	1	3106	1	ATP1A2	1	160109760	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	7829239	160109760	89140861	7	77243											
RALGPS2	55103	broad.mit.edu	37	chr1	178854323	178854323	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgattccacatggacatagGaagtgccatagtttgggtta	11	12	11	7	0	0	1	0	1	0	0	1	3	1	3	2	3	1	2	2	3	4	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:178854323G>A	ENST00000367635.3	+	12	1355	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Silent_p.R339R|RALGPS2_ENST00000324778.4_Silent_p.R304R	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	339					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGACATAGGAAGTGCCATA	0.408													17	42					0	0	0	0	A	178854323	G	A	178854323	2	1	403	1	0	0	0	0	0	0	0	1	13100	1165	41	2		2	RALGPS2	1	178854323	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	18744563	178854323	70396298	8	77244											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179877788	179877788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggccccacaaactgcaaGaataaggaccaggatgcaaa	17	4	10	10	0	0	1	0	0	0	1	0	3	0	3	3	3	3	2	3	3	5	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:179877788G>T	ENST00000435319.3	+	8	1078	c.887G>T	c.(886-888)aGa>aTa	p.R296I	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R297I	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	296						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CAAACTGCAAGAATAAGGACC	0.328													8	26					0.0809354	0.0815176	1	0	T	179877788	G	T	179877788	3	4	403	1	0	0	0	0	1	0	0	0	16467	942	33	2	917	2	TOR1AIP1	1	179877788	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	1023465	179877788	69372833	9	77245											
HMCN1	83872	broad.mit.edu	37	chr1	185833633	185833633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcccagaaatgagtattgGagctataaaaattgccttgg	13	12	10	6	0	0	2	0	1	0	1	0	3	0	3	2	2	3	2	2	2	6	7			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:185833633G>T	ENST00000271588.4	+	3	600	c.371G>T	c.(370-372)gGa>gTa	p.G124V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G124V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	124	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGAGTATTGGAGCTATAAAA	0.393													12	43					0.00185496	0.00190952	1	0	T	185833633	G	T	185833633	3	4	403	1	0	0	0	0	1	0	0	0	7270	1174	41	2	381	2	HMCN1	1	185833633	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	5955845	185833633	63416988	10	77246											
KCNT2	343450	broad.mit.edu	37	chr1	196458986	196458986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accattcatttccttgtgaaGggttttctagtagtactcgg	8	16	9	8	1	2	1	1	1	1	0	4	1	3	1	2	2	1	3	2	2	4	8			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:196458986G>C	ENST00000367433.5	-	3	358	c.257C>G	c.(256-258)cCt>cGt	p.P86R	KCNT2_ENST00000367431.4_Missense_Mutation_p.P86R|KCNT2_ENST00000294725.8_Missense_Mutation_p.P86R|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	86						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCCTTGTGAAGGGTTTTCTAG	0.294													25	79					0	0	0	0	C	196458986	G	C	196458986	3	2	403	1	0	0	0	0	1	0	0	0	8145	1000	35	4	3254	4	KCNT2	1	196458986	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	10625353	196458986	52791635	11	77247											
CRB1	23418	broad.mit.edu	37	chr1	197390404	197390404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgggtccctgtgtgaaatCgcaaccacactttcatttga	10	11	8	12	2	1	2	1	2	0	0	3	2	2	2	3	1	1	1	3	1	2	2	rs150894028		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:197390404C>T	ENST00000367400.3	+	6	1581	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	CRB1_ENST00000543483.1_Silent_p.I181I|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.I482I|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Silent_p.I370I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.I413I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	482					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTGTGAAATCGCAACCACAC	0.493													18	41					0	0	0	0	T	197390404	C	T	197390404	2	4	403	1	0	0	0	0	0	0	0	1	3878	874	31	1		1	CRB1	1	197390404	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	931418	197390404	51860217	12	77248											
USH2A	7399	broad.mit.edu	37	chr1	216420132	216420132	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacccctaatttgcaaggAcattgtcctgttgatttgtt	8	17	8	8	0	0	1	0	1	0	0	1	2	1	2	3	1	2	4	3	1	3	7			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:216420132A>G	ENST00000366943.2	-	13	2990	c.2604T>C	c.(2602-2604)tgT>tgC	p.C868C	USH2A_ENST00000366942.3_Silent_p.C868C|USH2A_ENST00000307340.3_Silent_p.C868C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	868	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTGCAAGGACATTGTCCTG	0.428										HNSCC(13;0.011)			10	201					0	0	0	0	G	216420132	A	G	216420132	2	3	403	1	0	0	0	0	0	0	0	1	17132	273	10	5		5	USH2A	1	216420132	Silent	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08	19029728	216420132	32830489	13	77249											
XIRP2	129446	broad.mit.edu	37	chr2	168106093	168106093	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacagaccacagctatgaaAgtcataaacagcaatctgag	19	6	7	9	0	2	3	1	2	1	1	2	3	2	3	1	0	4	2	1	0	6	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:168106093A>C	ENST00000409195.1	+	9	8280	c.8191A>C	c.(8191-8193)Agt>Cgt	p.S2731R	XIRP2_ENST00000409273.1_Missense_Mutation_p.S2509R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2731R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2556					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCTATGAAAGTCATAAACA	0.348													8	83					0	0	0	0	C	168106093	A	C	168106093	3	2	403	1	0	0	0	0	1	0	0	0	17526	72	3	5	8221	5	XIRP2	2	168106093	Missense_Mutation	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08		168106093	75093280	14	77250											
HOXD9	3235	broad.mit.edu	37	chr2	176988200	176988200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggatcggggccgcgactgGgacgggcggctcgtcggagc	5	4	21	11	7	0	0	0	0	0	0	3	4	0	3	1	7	1	1	1	7	0	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:176988200G>T	ENST00000249499.6	+	1	1113	c.704G>T	c.(703-705)gGg>gTg	p.G235V	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	235						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGCGACTGGGACGGGCGGC	0.701													4	10					0.00024832	0.000257517	1	0	T	176988200	G	T	176988200	3	4	403	1	0	0	0	0	1	0	0	0	7376	1232	43	4	706	4	HOXD9	2	176988200	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	8882107	176988200	66211173	15	77251											
PMS1	5378	broad.mit.edu	37	chr2	190717430	190717430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcagaccactctttcaCtagtctttcaacaccagaaa	13	11	5	12	0	4	3	2	1	2	2	4	3	4	3	2	0	2	1	2	0	3	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:190717430C>T	ENST00000441310.2	+	7	982	c.749C>T	c.(748-750)aCt>aTt	p.T250I	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.T211I|PMS1_ENST00000418224.3_Missense_Mutation_p.T74I|PMS1_ENST00000432292.3_Missense_Mutation_p.T74I|PMS1_ENST00000447232.2_Missense_Mutation_p.T250I	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	250					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CACTCTTTCACTAGTCTTTCA	0.328			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					27	68					0	0	0	0	T	190717430	C	T	190717430	3	4	403	1	0	0	0	0	1	0	0	0	12214	565	20	4	771	4	PMS1	2	190717430	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	13729230	190717430	52481943	16	77252											
MFSD6	54842	broad.mit.edu	37	chr2	191362215	191362216	+	Frame_Shift_Ins	INS	-	-	T																															tccctccagtcccgttcctaINStagcaaccatcgacttggta																										TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:191362215_191362216insT	ENST00000392328.1	+	7	2266_2267	c.1942_1943insT	c.(1942-1944)agcfs	p.S648fs	MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.S648fs|MFSD6_ENST00000535751.1_Frame_Shift_Ins_p.S110fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	648					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCCCGTTCCTATAGCAACCATC	0.426													47	157	---	---	---	---					T	191362216	-	T	191362215	7	5	403	1	0	1	1	0	0	0	0	0	9604	449	16	0	1960	0	MFSD6	2	191362215	Frame_Shift_Ins	INS	-	TCGA-F7-A61V-01A-11D-A28R-08	644785	191362215	51837158	17	77253											
DNAH7	56171	broad.mit.edu	37	chr2	196825355	196825355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattacagatcacttgaatGagaggaatgtgctgcttgaa	13	11	12	5	0	1	4	1	3	0	2	1	7	1	6	0	2	3	2	0	2	4	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:196825355G>T	ENST00000312428.6	-	18	2620	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	840	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCACTTGAATGAGAGGAATGT	0.438													43	99					8.20599e-20	1.02575e-19	1	0	T	196825355	G	T	196825355	2	4	403	1	0	0	0	0	0	0	0	1	4642	1277	45	2		2	DNAH7	2	196825355	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	5463140	196825355	46374018	18	77254											
ALS2	57679	broad.mit.edu	37	chr2	202626249	202626249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtgctcctcgccacaCgccaactgtaaaatcctgac	11	8	8	14	2	0	2	0	1	0	1	3	2	2	2	4	0	2	2	4	0	3	1	rs145506395	by1000genomes	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:202626249C>T	ENST00000264276.6	-	4	840	c.468G>A	c.(466-468)gcG>gcA	p.A156A	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Silent_p.A156A	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	156					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCTCGCCACACGCCAACTGTA	0.522													26	33					0	0	0	0	T	202626249	C	T	202626249	2	4	403	1	0	0	0	0	0	0	0	1	550	523	19	1		1	ALS2	2	202626249	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	5800894	202626249	40573124	19	77255											
VIL1	7429	broad.mit.edu	37	chr2	219296613	219296613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgaagttcgatgccacatCcatgcatgtcaagcctcagg	10	9	11	11	1	2	1	2	1	0	0	4	2	3	1	3	2	3	2	3	2	2	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:219296613C>A	ENST00000248444.5	+	11	1224	c.1136C>A	c.(1135-1137)tCc>tAc	p.S379Y	VIL1_ENST00000392114.2_Missense_Mutation_p.S68Y	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	379	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGCCACATCCATGCATGTC	0.567													25	14					7.76418e-22	9.88169e-22	1	0	A	219296613	C	A	219296613	3	1	403	1	0	0	0	0	1	0	0	0	17260	855	30	2	1174	2	VIL1	2	219296613	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	16670364	219296613	23902760	20	77256											
SLC4A3	6508	broad.mit.edu	37	chr2	220506439	220506440	+	Frame_Shift_Ins	INS	-	-	T																															tgagtacaatgagctgcacaINStgccagtgtgacccttgaag																										TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:220506439_220506440insT	ENST00000358055.3	+	23	4200_4201	c.3688_3689insT	c.(3688-3690)gccfs	p.A1230fs	SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A1257fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A1230fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A1230fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A1257fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1230	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCTGCACATGCCAGTGTGA	0.594													17	28	---	---	---	---					T	220506440	-	T	220506439	7	5	403	1	0	1	1	0	0	0	0	0	14743	217	8	0	3855	0	SLC4A3	2	220506439	Frame_Shift_Ins	INS	-	TCGA-F7-A61V-01A-11D-A28R-08	1209826	220506439	22692934	21	77257											
EPHA3	2042	broad.mit.edu	37	chr3	89498523	89498523	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagatgtccaatcaggAtgtaagtatttgtggtctat	10	14	12	5	0	2	1	1	0	1	1	3	3	3	2	1	3	0	2	1	3	4	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:89498523A>G	ENST00000336596.2	+	14	2720	c.2496_splice	c.e14+1	p.D832_splice	EPHA3_ENST00000494014.1_Splice_Site_p.D832_splice	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	832	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			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)		TCCAATCAGGATGTAAGTATT	0.443										TSP Lung(6;0.00050)			7	101					0	0	0	0	G	89498523	A	G	89498523	5	3	403	1	0	0	0	0	0	0	1	0	5206	347	12	5	2575	5	EPHA3	3	89498523	Splice_Site	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08		89498523	108523907	22	77258											
MYH15	22989	broad.mit.edu	37	chr3	108188927	108188927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcttgcaaatccagacCaaagccaatagacacccatt	16	6	6	13	0	0	2	0	0	0	2	1	2	1	2	4	0	3	3	4	0	5	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:108188927C>A	ENST00000273353.3	-	15	1632	c.1576G>T	c.(1576-1578)Ggt>Tgt	p.G526C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	526	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						AAATCCAGACCAAAGCCAATA	0.368													20	56					2.98393e-07	3.21346e-07	1	0	A	108188927	C	A	108188927	3	1	403	1	0	0	0	0	1	0	0	0	10104	594	21	4	4376	4	MYH15	3	108188927	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	18690404	108188927	89833503	23	77259											
GPR156	165829	broad.mit.edu	37	chr3	119886626	119886626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgacaagagggggcGgtggagagggaagcctcagg	10	5	20	6	1	1	4	1	2	0	2	1	6	1	5	1	6	2	1	1	6	2	0	rs140788830	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:119886626G>A	ENST00000464295.1	-	10	2143	c.1698C>T	c.(1696-1698)acC>acT	p.T566T	GPR156_ENST00000315843.3_Silent_p.T566T|GPR156_ENST00000461057.1_Silent_p.T562T			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	566						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAGAGGGGGCGGTGGAGAGGG	0.577													47	156					0	0	0	0	A	119886626	G	A	119886626	2	1	403	1	0	0	0	0	0	0	0	1	6710	1103	39	1		1	GPR156	3	119886626	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	11697699	119886626	78135804	24	77260											
HGD	3081	broad.mit.edu	37	chr3	120365178	120365178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatgtagcccctggtCtcctcaaagacatctatgct	10	11	7	13	0	3	2	1	0	2	2	5	2	4	2	4	1	2	2	4	1	4	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:120365178C>A	ENST00000283871.5	-	9	1044	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	195					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGCCCCTGGTCTCCTCAAAGA	0.473													23	78					7.87624e-14	9.26617e-14	1	0	A	120365178	C	A	120365178	3	1	403	1	0	0	0	0	1	0	0	0	7134	912	32	2	776	2	HGD	3	120365178	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	478552	120365178	77657252	25	77261											
GRK7	131890	broad.mit.edu	37	chr3	141499650	141499650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaagcccatcacccaGagggtgagtgactctccacc	9	6	12	14	0	2	3	1	2	1	1	3	3	2	3	4	3	1	1	4	3	1	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:141499650G>T	ENST00000264952.2	+	2	1184	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	349	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCATCACCCAGAGGGTGAGTG	0.567													11	27					4.68919e-08	5.21021e-08	1	0	T	141499650	G	T	141499650	3	4	403	1	0	0	0	0	1	0	0	0	6844	933	33	2	1053	2	GRK7	3	141499650	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	21134472	141499650	56522780	26	77262											
ABCF3	55324	broad.mit.edu	37	chr3	183905522	183905522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggagaagcgctcagagaAggacacgctcaagaccagca	15	2	13	11	2	2	3	2	0	0	3	2	6	2	4	1	2	2	4	1	2	3	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:183905522A>G	ENST00000429586.2	+	5	604	c.419A>G	c.(418-420)aAg>aGg	p.K140R	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.K134R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	140							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTCAGAGAAGGACACGCTC	0.532													72	94					0	0	0	0	G	183905522	A	G	183905522	3	3	403	1	0	0	0	0	1	0	0	0	67	72	3	5	437	5	ABCF3	3	183905522	Missense_Mutation	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08	42405872	183905522	14116908	27	77263											
SRP72	6731	broad.mit.edu	37	chr4	57333850	57333850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtacctgcgctgtggagtGaagtgaaccggtatggccag	9	8	15	9	2	0	2	0	2	0	0	0	3	0	3	3	3	3	3	3	3	4	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:57333850G>A	ENST00000342756.5	+	1	770	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	SRP72_ENST00000504757.1_Missense_Mutation_p.E17K|SRP72_ENST00000510663.1_Missense_Mutation_p.E17K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	17					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCTGTGGAGTGAAGTGAACCG	0.677													9	40					0	0	0	0	A	57333850	G	A	57333850	3	1	403	1	0	0	0	0	1	0	0	0	15247	1291	45	2	51	2	SRP72	4	57333850	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08		57333850	133820426	28	77264											
MMRN1	22915	broad.mit.edu	37	chr4	90816327	90816327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggcggagatagctacaactCcagaggcaagaacttctgaa	14	6	11	10	2	1	4	0	1	1	3	2	5	2	4	1	3	4	2	1	3	6	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:90816327C>G	ENST00000394980.1	+	2	524	c.205C>G	c.(205-207)Cca>Gca	p.P69A	MMRN1_ENST00000264790.2_Missense_Mutation_p.P69A|MMRN1_ENST00000394981.1_Missense_Mutation_p.P69A			Q13201	MMRN1_HUMAN	multimerin 1	69					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGCTACAACTCCAGAGGCAAG	0.453													18	75					0	0	0	0	G	90816327	C	G	90816327	3	3	403	1	0	0	0	0	1	0	0	0	9740	855	30	2	207	2	MMRN1	4	90816327	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	33482477	90816327	100337949	29	77265											
FBXO8	26269	broad.mit.edu	37	chr4	175158592	175158592	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatggccaataaggtagaTattgtcataaagatgcccta	15	10	8	8	0	1	2	1	0	0	2	1	2	1	2	2	2	1	1	2	2	7	6			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:175158592T>C	ENST00000393674.2	-	6	1793	c.931A>G	c.(931-933)Atc>Gtc	p.I311V	FBXO8_ENST00000503293.1_Missense_Mutation_p.I270V	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	311					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATAAGGTAGATATTGTCATAA	0.383													24	61					0	0	0	0	C	175158592	T	C	175158592	3	2	403	1	0	0	0	0	1	0	0	0	5806	1406	49	5	32	5	FBXO8	4	175158592	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08	84342265	175158592	15995684	30	77266											
TLR3	7098	broad.mit.edu	37	chr4	187004364	187004364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagcctcttcgtaacttGaccattctggatctaagcaa	10	13	6	12	1	3	1	0	1	3	0	5	2	4	2	3	1	3	2	3	1	3	6			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:187004364G>A	ENST00000296795.2	+	4	1628	c.1524G>A	c.(1522-1524)ttG>ttA	p.L508L	TLR3_ENST00000504367.1_Silent_p.L231L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	508					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTCGTAACTTGACCATTCTGG	0.448													29	101					0	0	0	0	A	187004364	G	A	187004364	2	1	403	1	0	0	0	0	0	0	0	1	16046	1281	45	2		2	TLR3	4	187004364	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	11845772	187004364	4149912	31	77267											
FBXL7	23194	broad.mit.edu	37	chr5	15928350	15928350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggactatccgcctgaCgggcgagaccatcaacgtgg	9	6	14	12	4	1	2	1	1	0	1	2	5	2	4	3	4	1	0	3	4	2	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:15928350C>T	ENST00000504595.1	+	3	960	c.479C>T	c.(478-480)aCg>aTg	p.T160M	FBXL7_ENST00000510662.1_Missense_Mutation_p.T113M|FBXL7_ENST00000329673.7_Missense_Mutation_p.T148M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	160					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T160M(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATCCGCCTGACGGGCGAGACC	0.657													7	18					0	0	0	0	T	15928350	C	T	15928350	3	4	403	1	0	0	0	0	1	0	0	0	5769	536	19	1	489	1	FBXL7	5	15928350	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08		15928350	164986910	32	77268											
BRIX1	55299	broad.mit.edu	37	chr5	34923315	34923315	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttcaccattttggataaTaggatatggtttcggaactt	11	16	8	6	1	1	0	1	0	0	0	2	3	1	3	1	4	1	1	1	4	4	8			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:34923315T>G	ENST00000336767.5	+	8	1002	c.639T>G	c.(637-639)aaT>aaG	p.N213K	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	213	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTTTGGATAATAGGATATGGT	0.323													4	46					0	0	0	0	G	34923315	T	G	34923315	3	3	403	1	0	0	0	0	1	0	0	0	1523	1403	49	5	669	5	BRIX1	5	34923315	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08	18994965	34923315	145991945	33	77269											
NIPBL	25836	broad.mit.edu	37	chr5	37064695	37064695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagatgaatgaaagtgttGacgtcatggatgtcatcgct	12	11	11	7	2	2	4	2	3	0	1	3	5	2	5	0	1	0	2	0	1	2	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:37064695G>C	ENST00000282516.8	+	47	8615	c.8116G>C	c.(8116-8118)Gac>Cac	p.D2706H		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2706					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAAAGTGTTGACGTCATGGA	0.438													54	120					0	0	0	0	C	37064695	G	C	37064695	3	2	403	1	0	0	0	0	1	0	0	0	10498	1290	45	2	8343	2	NIPBL	5	37064695	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	2141380	37064695	143850565	34	77270											
ENC1	8507	broad.mit.edu	37	chr5	73931269	73931269	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccattttcagacccccGccccccagtaatgtacactt	9	9	5	18	1	1	1	1	0	0	1	1	2	1	1	7	0	1	2	7	0	2	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:73931269G>T	ENST00000302351.4	-	2	2172	c.1042C>A	c.(1042-1044)Cgg>Agg	p.R348R	ENC1_ENST00000537006.1_Silent_p.R348R|ENC1_ENST00000510316.1_Silent_p.R275R	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	348					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCAGACCCCCGCCCCCCAGTA	0.532													45	56					1.23713e-20	1.56034e-20	1	0	T	73931269	G	T	73931269	2	4	403	1	0	0	0	0	0	0	0	1	5151	1086	38	3		3	ENC1	5	73931269	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	36866574	73931269	106983991	35	77271											
PAM	5066	broad.mit.edu	37	chr5	102353044	102353044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttattttggcagcactttGatatgcctcatgatattgtt	8	19	7	7	0	2	2	1	2	1	0	2	2	2	2	1	1	2	3	1	1	3	8			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:102353044G>C	ENST00000438793.3	+	21	2808	c.2338G>C	c.(2338-2340)Gat>Cat	p.D780H	PAM_ENST00000274392.9_Missense_Mutation_p.D683H|PAM_ENST00000346918.2_Missense_Mutation_p.D780H|PAM_ENST00000348126.2_Missense_Mutation_p.D673H|PAM_ENST00000304400.7_Missense_Mutation_p.D780H|PAM_ENST00000379787.4_Missense_Mutation_p.D160H|PAM_ENST00000455264.2_Missense_Mutation_p.D780H	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	780	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCAGCACTTTGATATGCCTCA	0.413													41	83					0	0	0	0	C	102353044	G	C	102353044	3	2	403	1	0	0	0	0	1	0	0	0	11483	1290	45	2	2420	2	PAM	5	102353044	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	28421775	102353044	78562216	36	77272											
TXNDC15	79770	broad.mit.edu	37	chr5	134223674	134223674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtccgagagagccttttCtctctggatggcgctggagc	7	10	13	11	3	2	1	0	0	2	1	4	5	3	3	2	3	3	1	2	3	1	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:134223674C>A	ENST00000358387.4	+	2	1018	c.393C>A	c.(391-393)ttC>ttA	p.F131L	TXNDC15_ENST00000546290.1_Missense_Mutation_p.F108L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	131					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGCCTTTTCTCTCTGGATG	0.582													16	37					1.02788e-11	1.16995e-11	1	0	A	134223674	C	A	134223674	3	1	403	1	0	0	0	0	1	0	0	0	16890	912	32	2	399	2	TXNDC15	5	134223674	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	31870630	134223674	46691586	37	77273											
TXNDC15	79770	broad.mit.edu	37	chr5	134223748	134223748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagccagaagtggcggaatCtgacgcagccccgacagagg	12	3	15	11	3	1	4	0	1	1	3	1	6	1	5	3	3	2	1	3	3	2	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:134223748C>T	ENST00000358387.4	+	2	1092	c.467C>T	c.(466-468)tCt>tTt	p.S156F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.S133F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	156	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGCGGAATCTGACGCAGCC	0.493													17	28					0	0	0	0	T	134223748	C	T	134223748	3	4	403	1	0	0	0	0	1	0	0	0	16890	913	32	2	473	2	TXNDC15	5	134223748	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	74	134223748	46691512	38	77274											
PCDHB12	56124	broad.mit.edu	37	chr5	140589766	140589766	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccgacttggggaccccCaggctaaaaaccgagcacaa	13	4	10	14	2	1	0	1	0	0	0	1	3	1	1	4	3	2	2	4	3	4	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:140589766C>A	ENST00000239450.2	+	1	1476	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P	PCDHB12_ENST00000541609.1_Silent_p.P92P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			TGGGGACCCCCAGGCTAAAAA	0.547													98	67					2.1089e-46	2.78534e-46	1	0	A	140589766	C	A	140589766	2	1	403	1	0	0	0	0	0	0	0	1	11608	581	21	4		4	PCDHB12	5	140589766	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	6366018	140589766	40325494	39	77275											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718660	140718660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgcgggaagagatcgacaGaggctccttcgtaggcaaca	11	7	14	9	3	0	2	0	0	0	2	3	5	1	3	1	3	2	3	1	3	3	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:140718660G>C	ENST00000394576.2	+	1	122	c.122G>C	c.(121-123)aGa>aCa	p.R41T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATCGACAGAGGCTCCTTC	0.612											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	91					0	0	0	0	C	140718660	G	C	140718660	3	2	403	1	0	0	0	0	1	0	0	0	11625	942	33	2	124	2	PCDHGA2	5	140718660	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	128894	140718660	40196600	40	77276											
OR2H2	7932	broad.mit.edu	37	chr6	29556329	29556329	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgttgccagtgtctTcatcttggttgtgcctctca	3	16	12	10	0	4	0	2	0	3	0	5	0	4	0	2	3	2	3	2	3	0	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:29556329T>G	ENST00000383640.2	+	1	647	c.608T>G	c.(607-609)tTc>tGc	p.F203C	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	203					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCCAGTGTCTTCATCTTGGTT	0.512													47	115					0	0	0	0	G	29556329	T	G	29556329	3	3	403	1	0	0	0	0	1	0	0	0	11073	1783	62	5	610	5	OR2H2	6	29556329	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08		29556329	141558738	41	77277											
MDN1	23195	broad.mit.edu	37	chr6	90421860	90421860	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatttaacagccatgaccaAaacatctggttcatcgatcc	14	10	5	12	1	2	1	1	1	1	0	4	2	3	1	3	1	3	1	3	1	4	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:90421860A>C	ENST00000369393.3	-	49	7661	c.7546T>G	c.(7546-7548)Ttg>Gtg	p.L2516V	MDN1_ENST00000428876.1_Missense_Mutation_p.L2516V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2516					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCATGACCAAAACATCTGGT	0.418													50	126					0	0	0	0	C	90421860	A	C	90421860	3	2	403	1	0	0	0	0	1	0	0	0	9484	11	1	5	9460	5	MDN1	6	90421860	Missense_Mutation	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08	60865531	90421860	80693207	42	77278											
SYNJ2	8871	broad.mit.edu	37	chr6	158509796	158509796	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttctaccaggagcacctCagcaacctgtgagttcttct	9	11	8	13	0	4	1	1	1	3	0	4	3	4	2	3	1	4	3	3	1	2	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:158509796C>T	ENST00000355585.4	+	24	3523	c.3448C>T	c.(3448-3450)Cag>Tag	p.Q1150*	SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.Q235*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.Q1105*|SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.Q1150*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1150							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGAGCACCTCAGCAACCTGT	0.463													27	85					0	0	0	0	T	158509796	C	T	158509796	4	4	403	1	0	0	0	0	0	1	0	0	15544	827	29	2	3542	2	SYNJ2	6	158509796	Nonsense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	68087936	158509796	12605271	43	77279											
POU6F2	11281	broad.mit.edu	37	chr7	39504009	39504009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaacctgaccgagtttatCgggagtgaaccatccaaaaa	15	7	9	10	2	0	3	0	2	0	1	2	5	1	4	4	1	2	1	4	1	5	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:39504009C>T	ENST00000518318.2	+	10	1734	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	POU6F2_ENST00000403058.1_Silent_p.I600I|POU6F2_ENST00000559001.1_Silent_p.I545I			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	600	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGAGTTTATCGGGAGTGAAC	0.572													17	44					0	0	0	0	T	39504009	C	T	39504009	2	4	403	1	0	0	0	0	0	0	0	1	12356	874	31	1		1	POU6F2	7	39504009	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08		39504009	119634654	44	77280											
STX1A	6804	broad.mit.edu	37	chr7	73117273	73117273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgccgcgtctcaatctCgctcagagcctgcttcgaga	7	10	10	14	4	3	2	2	0	2	2	6	3	3	2	2	0	3	2	2	0	1	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:73117273C>T	ENST00000222812.3	-	8	606	c.580G>A	c.(580-582)Gag>Aag	p.E194K	WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_Missense_Mutation_p.E194K|STX1A_ENST00000395155.3_Missense_Mutation_p.E194K|STX1A_ENST00000395156.3_Missense_Mutation_p.E194K	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	194	t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	p.E194K(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTCTCAATCTCGCTCAGAGCC	0.607													18	57					0	0	0	0	T	73117273	C	T	73117273	3	4	403	1	0	0	0	0	1	0	0	0	15433	893	31	1	298	1	STX1A	7	73117273	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	33613264	73117273	86021390	45	77281											
MMP16	4325	broad.mit.edu	37	chr8	89058940	89058940	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgaggagattcagggatCcctttccagactgtgattgg	8	11	12	10	0	1	4	1	2	0	2	3	6	3	5	3	3	0	0	3	3	0	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:89058940C>A	ENST00000286614.6	-	9	1727	c.1446G>T	c.(1444-1446)ggG>ggT	p.G482G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTCAGGGATCCCTTTCCAGA	0.378													18	37					3.99206e-14	4.73634e-14	1	0	A	89058940	C	A	89058940	2	1	403	1	0	0	0	0	0	0	0	1	9724	842	30	2		2	MMP16	8	89058940	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08		89058940	57305082	46	77282											
GSDMD	79792	broad.mit.edu	37	chr8	144644483	144644483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatgctggtgccggaactCgctatccctgttgtctacct	6	12	11	12	2	1	0	0	0	1	0	3	2	2	2	3	3	4	3	3	3	4	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144644483C>T	ENST00000526406.1	+	12	1984	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	GSDMD_ENST00000262580.4_Silent_p.L367L|GSDMD_ENST00000533063.1_Silent_p.L415L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	367				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGCCGGAACTCGCTATCCCTG	0.692													5	8					0	0	0	0	T	144644483	C	T	144644483	2	4	403	1	0	0	0	0	0	0	0	1	6869	871	31	1		1	GSDMD	8	144644483	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	55585543	144644483	1719539	47	77283											
EPPK1	83481	broad.mit.edu	37	chr8	144943115	144943115	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacctcaagcactgtgtctGagggcagtggcaacagcaac	11	6	11	13	0	2	1	1	1	1	0	2	1	2	1	2	2	4	4	2	2	3	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144943115G>C	ENST00000525985.1	-	2	4378	c.4307C>G	c.(4306-4308)tCa>tGa	p.S1436*				P58107	EPIPL_HUMAN	epiplakin 1	1436						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACTGTGTCTGAGGGCAGTGG	0.622													20	64					0	0	0	0	C	144943115	G	C	144943115	4	2	403	1	0	0	0	0	0	1	0	0	5228	1294	45	2	2959	2	EPPK1	8	144943115	Nonsense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	298632	144943115	1420907	48	77284											
EPPK1	83481	broad.mit.edu	37	chr8	144943213	144943213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcgcactggggtcaaaGaagaacttgttgtccttgtc	8	11	11	11	2	1	2	1	0	0	2	4	2	3	2	2	2	1	2	2	2	3	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144943213G>T	ENST00000525985.1	-	2	4280	c.4209C>A	c.(4207-4209)ttC>ttA	p.F1403L				P58107	EPIPL_HUMAN	epiplakin 1	1403						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGTCAAAGAAGAACTTGT	0.627													13	49					2.27111e-07	2.46477e-07	1	0	T	144943213	G	T	144943213	3	4	403	1	0	0	0	0	1	0	0	0	5228	933	33	2	3057	2	EPPK1	8	144943213	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	98	144943213	1420809	49	77285											
DOCK8	81704	broad.mit.edu	37	chr9	405019	405019	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctcaatctgaaccttttTtttatgaatgctgatactgc	10	17	5	9	0	2	3	1	3	1	0	2	3	2	3	2	0	5	1	2	0	6	6			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:405019T>G	ENST00000432829.2	+	27	3448	c.3132T>G	c.(3130-3132)ttT>ttG	p.F1044L	DOCK8_ENST00000469391.1_Missense_Mutation_p.F1012L|DOCK8_ENST00000453981.1_Missense_Mutation_p.F1112L|DOCK8_ENST00000382329.1_Missense_Mutation_p.F579L|DOCK8_ENST00000382331.1_Missense_Mutation_p.F414L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1112					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAACCTTTTTTTTATGAATG	0.383													9	22					0	0	0	0	G	405019	T	G	405019	3	3	403	1	0	0	0	0	1	0	0	0	4729	1838	64	5	3442	5	DOCK8	9	405019	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08		405019	140808412	50	77286											
TLN1	7094	broad.mit.edu	37	chr9	35714267	35714267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccggagttcagccagcGcggtgcccaggttcttggca	5	8	14	14	4	2	0	1	0	1	0	3	1	3	1	4	4	3	3	4	4	0	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:35714267G>A	ENST00000314888.9	-	24	3442	c.3089C>T	c.(3088-3090)gCg>gTg	p.A1030V	TLN1_ENST00000540444.1_Missense_Mutation_p.A1030V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1030					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCAGCCAGCGCGGTGCCCAG	0.577													32	65					0	0	0	0	A	35714267	G	A	35714267	3	1	403	1	0	0	0	0	1	0	0	0	16041	1087	38	1	4672	1	TLN1	9	35714267	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	35309248	35714267	105499164	51	77287											
PSAT1	29968	broad.mit.edu	37	chr9	80921300	80921300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattattgcgcaaatgagacGgtgcatggtgtggagtttga	10	13	14	4	2	0	2	0	2	0	1	0	4	0	3	0	3	2	3	0	3	3	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:80921300G>A	ENST00000376588.3	+	5	536	c.468G>A	c.(466-468)acG>acA	p.T156T	PSAT1_ENST00000347159.2_Silent_p.T156T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	156					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CAAATGAGACGGTGCATGGTG	0.468													151	357					0	0	0	0	A	80921300	G	A	80921300	2	1	403	1	0	0	0	0	0	0	0	1	12723	1103	39	1		1	PSAT1	9	80921300	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	45207033	80921300	60292131	52	77288											
NPDC1	56654	broad.mit.edu	37	chr9	139934263	139934263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgggggccggcaggggCgcggacagtgcggcgtggtc	4	4	23	10	5	0	0	0	0	0	0	1	2	0	1	1	8	2	2	1	8	0	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:139934263C>T	ENST00000371600.3	-	8	1845	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	NPDC1_ENST00000371601.4_Silent_p.A313A			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	313						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCGGCAGGGGCGCGGACAGTG	0.711													11	27					0	0	0	0	T	139934263	C	T	139934263	2	4	403	1	0	0	0	0	0	0	0	1	10643	755	27	1		1	NPDC1	9	139934263	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	59012963	139934263	1279168	53	77289											
PRTFDC1	56952	broad.mit.edu	37	chr10	25144250	25144250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgaaaaacacttacagtCaggtctaaagccgtcacttc	15	9	6	11	1	3	1	2	1	1	0	4	1	3	1	1	1	4	0	1	1	6	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:25144250C>T	ENST00000320152.6	-	7	578	c.550G>A	c.(550-552)Gac>Aac	p.D184N	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.D184N	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	184					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CACTTACAGTCAGGTCTAAAG	0.328													16	23					0	0	0	0	T	25144250	C	T	25144250	3	4	403	1	0	0	0	0	1	0	0	0	12716	826	29	2	139	2	PRTFDC1	10	25144250	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08		25144250	110390497	54	77290											
EGR2	1959	broad.mit.edu	37	chr10	64574192	64574192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatgggagatccaacgacCtcttctctccagtcatgtca	10	11	8	12	1	4	1	2	0	2	1	7	4	6	1	3	1	1	0	3	1	2	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:64574192C>G	ENST00000242480.3	-	2	531	c.206G>C	c.(205-207)aGg>aCg	p.R69T	EGR2_ENST00000411732.1_Missense_Mutation_p.R19T|EGR2_ENST00000439032.1_Missense_Mutation_p.R69T|EGR2_ENST00000493899.2_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	69					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCCAACGACCTCTTCTCTCC	0.507													18	57					0	0	0	0	G	64574192	C	G	64574192	3	3	403	1	0	0	0	0	1	0	0	0	5008	681	24	4	1228	4	EGR2	10	64574192	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	39429942	64574192	70960555	55	77291											
C10orf12	26148	broad.mit.edu	37	chr10	98744493	98744493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcaaagaaaagcatgctGatggagccaccaaaacccct	16	4	8	13	0	0	2	0	1	0	1	0	3	0	3	5	1	5	3	5	1	5	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:98744493G>A	ENST00000286067.2	+	1	3453	c.3346G>A	c.(3346-3348)Gat>Aat	p.D1116N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1116										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)		AAAGCATGCTGATGGAGCCAC	0.502													31	65					0	0	0	0	A	98744493	G	A	98744493	3	1	403	1	0	0	0	0	1	0	0	0	1599	1290	45	2	3348	2	C10orf12	10	98744493	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	34170301	98744493	36790254	56	77292											
C10orf62	414157	broad.mit.edu	37	chr10	99349663	99349663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggaggtctcatgctgtgGgttcagagaaagaggagaag	11	8	18	4	0	2	3	2	0	1	3	3	6	2	4	0	5	1	2	0	5	2	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:99349663G>A	ENST00000370640.3	+	1	214	c.9G>A	c.(7-9)tgG>tgA	p.W3*	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370646.4_Intron|HOGA1_ENST00000370647.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	3							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TCATGCTGTGGGTTCAGAGAA	0.502													32	110					0	0	0	0	A	99349663	G	A	99349663	4	1	403	1	0	0	0	0	0	1	0	0	1621	1241	43	4	11	4	C10orf62	10	99349663	Nonsense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	605170	99349663	36185084	57	77293											
KIAA1598	57698	broad.mit.edu	37	chr10	118713579	118713579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcttctgacactgtactGagacacaagtctcggcggca	9	11	10	11	2	2	2	0	2	2	1	3	3	2	2	0	2	2	3	0	2	2	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:118713579G>A	ENST00000355371.4	-	5	907	c.410C>T	c.(409-411)tCa>tTa	p.S137L	KIAA1598_ENST00000260777.10_Missense_Mutation_p.S137L|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.S77L|KIAA1598_ENST00000392903.2_Missense_Mutation_p.S137L	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	137					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		ACACTGTACTGAGACACAAGT	0.418													12	42					0	0	0	0	A	118713579	G	A	118713579	3	1	403	1	0	0	0	0	1	0	0	0	8297	1294	45	2	1537	2	KIAA1598	10	118713579	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	19363916	118713579	16821168	58	77294											
PNPLA2	57104	broad.mit.edu	37	chr11	821849	821849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacttcaactccaaggacGagctcatccaggtggggcct	9	7	10	15	1	2	0	2	0	0	0	4	2	4	1	4	4	2	1	4	4	2	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:821849G>A	ENST00000336615.4	+	3	611	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	137	Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCAAGGACGAGCTCATCCA	0.617													32	62					0	0	0	0	A	821849	G	A	821849	3	1	403	1	0	0	0	0	1	0	0	0	12237	1059	37	1	415	1	PNPLA2	11	821849	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08		821849	134184667	59	77295											
KCNK4	50801	broad.mit.edu	37	chr11	64066993	64066993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcgccccccgagaaggCtcagccgccttccccgccca	5	5	8	23	4	1	1	1	0	0	1	3	2	2	1	9	1	1	1	9	1	1	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:64066993C>A	ENST00000539216.1	+	6	1337	c.977C>A	c.(976-978)gCt>gAt	p.A326D	KCNK4_ENST00000394525.2_Missense_Mutation_p.A326D|KCNK4_ENST00000422670.2_Missense_Mutation_p.A326D|KCNK4_ENST00000538767.1_Silent_p.G210G|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	326						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CCCGAGAAGGCTCAGCCGCCT	0.726													21	74					2.37509e-13	2.74804e-13	1	0	A	64066993	C	A	64066993	3	1	403	1	0	0	0	0	1	0	0	0	8121	797	28	4	999	4	KCNK4	11	64066993	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	63245144	64066993	70939523	60	77296											
CCDC88B	283234	broad.mit.edu	37	chr11	64120307	64120307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgatgcaagatgggcatCggcagcggggcctggaggag	8	5	19	9	2	0	2	0	1	0	1	1	4	0	4	2	6	2	3	2	6	1	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:64120307C>T	ENST00000356786.5	+	20	3492	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R302W	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1150					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATGGGCATCGGCAGCGGGG	0.692													5	27					0	0	0	0	T	64120307	C	T	64120307	3	4	403	1	0	0	0	0	1	0	0	0	2891	875	31	1	3526	1	CCDC88B	11	64120307	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	53314	64120307	70886209	61	77297											
MYO7A	4647	broad.mit.edu	37	chr11	76903103	76903103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgtgcccacaggtgtcctCcctgggcagcggcagtgacc	5	8	13	15	1	1	1	0	1	1	0	3	1	3	1	4	3	2	2	4	3	0	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:76903103C>T	ENST00000409709.3	+	31	4204	c.3932C>T	c.(3931-3933)tCc>tTc	p.S1311F	MYO7A_ENST00000458637.2_Missense_Mutation_p.S1311F|MYO7A_ENST00000409619.2_Missense_Mutation_p.S1300F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1311	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGGTGTCCTCCCTGGGCAGC	0.652											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	29					0	0	0	0	T	76903103	C	T	76903103	3	4	403	1	0	0	0	0	1	0	0	0	10152	855	30	2	4084	2	MYO7A	11	76903103	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	12782796	76903103	58103413	62	77298											
MYO7A	4647	broad.mit.edu	37	chr11	76903206	76903206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgccccctggaggctcttCttccgcaaagaggtcttcac	8	9	9	15	2	4	1	1	0	3	1	5	2	5	2	3	3	1	2	3	3	2	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:76903206C>A	ENST00000409709.3	+	31	4307	c.4035C>A	c.(4033-4035)ttC>ttA	p.F1345L	MYO7A_ENST00000458637.2_Missense_Mutation_p.F1345L|MYO7A_ENST00000409619.2_Missense_Mutation_p.F1334L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1345	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGGCTCTTCTTCCGCAAAG	0.647											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	132					3.65163e-15	4.40714e-15	1	0	A	76903206	C	A	76903206	3	1	403	1	0	0	0	0	1	0	0	0	10152	912	32	2	4187	2	MYO7A	11	76903206	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	103	76903206	58103310	63	77299											
EED	8726	broad.mit.edu	37	chr11	85961378	85961378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtacaaacactgaacGccctgatacacctacaaaca	17	6	6	12	1	0	2	0	2	0	0	0	2	0	2	2	1	6	1	2	1	7	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:85961378G>A	ENST00000263360.6	+	2	841	c.155G>A	c.(154-156)cGc>cAc	p.R52H	EED_ENST00000528180.1_Missense_Mutation_p.R52H|EED_ENST00000351625.6_Missense_Mutation_p.R52H|EED_ENST00000327320.4_Missense_Mutation_p.R52H	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	52					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AACACTGAACGCCCTGATACA	0.378													23	71					0	0	0	0	A	85961378	G	A	85961378	3	1	403	1	0	0	0	0	1	0	0	0	4958	1087	38	1	161	1	EED	11	85961378	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	9058172	85961378	49045138	64	77300											
NRIP2	83714	broad.mit.edu	37	chr12	2944011	2944011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgctcatggcccctgctgGaggagtgggccaggggctgc	4	7	19	11	0	1	0	1	0	0	0	1	2	1	2	3	7	3	3	3	7	0	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:2944011G>T	ENST00000337508.4	-	1	179	c.139C>A	c.(139-141)Cca>Aca	p.P47T		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	47					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCCCCTGCTGGAGGAGTGGGC	0.652													63	119					2.3441e-25	3.03865e-25	1	0	T	2944011	G	T	2944011	3	4	403	1	0	0	0	0	1	0	0	0	10724	1174	41	2	730	2	NRIP2	12	2944011	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08		2944011	130907884	65	77301											
KLRF1	51348	broad.mit.edu	37	chr12	9994936	9994936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaggcttttatacagaaaaAcctaagacaattaaactacg	18	11	5	7	1	0	2	0	0	0	2	0	2	0	2	1	1	4	1	1	1	10	7			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:9994936A>G	ENST00000279544.3	+	5	558	c.494A>G	c.(493-495)aAc>aGc	p.N165S	KLRF1_ENST00000324214.4_Missense_Mutation_p.N115S|KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000354855.3_Intron	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	165	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ATACAGAAAAACCTAAGACAA	0.333													20	52					0	0	0	0	G	9994936	A	G	9994936	3	3	403	1	0	0	0	0	1	0	0	0	8472	43	2	5	512	5	KLRF1	12	9994936	Missense_Mutation	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08	7050925	9994936	123856959	66	77302											
PTHLH	5744	broad.mit.edu	37	chr12	28122338	28122338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacttacaggcggcggctGagaccctccaccgagcgccc	7	4	13	17	4	0	1	0	1	0	1	1	3	1	1	4	4	2	2	4	4	1	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:28122338G>A	ENST00000535992.1	-	2	436	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PTHLH_ENST00000395872.1_Silent_p.L30L|PTHLH_ENST00000201015.4_Silent_p.L30L|PTHLH_ENST00000395868.3_Silent_p.L30L|PTHLH_ENST00000538310.1_Silent_p.L30L|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000545234.1_Silent_p.L30L|PTHLH_ENST00000354417.3_Silent_p.L30L|PTHLH_ENST00000539239.1_Silent_p.L30L			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	30					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GGCGGCGGCTGAGACCCTCCA	0.711													5	12					0	0	0	0	A	28122338	G	A	28122338	2	1	403	1	0	0	0	0	0	0	0	1	12841	1277	45	2		2	PTHLH	12	28122338	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	18127402	28122338	105729557	67	77303											
SLC38A2	54407	broad.mit.edu	37	chr12	46758449	46758449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcagaaagaacaccataCacaacaaggaaaggccactg	20	3	7	11	0	1	2	1	0	0	2	1	3	1	3	2	2	3	0	2	2	7	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:46758449C>A	ENST00000256689.5	-	9	1127	c.683G>T	c.(682-684)tGt>tTt	p.C228F	SLC38A2_ENST00000551374.1_Missense_Mutation_p.C66F|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	228					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GAACACCATACACAACAAGGA	0.333													30	65					6.00712e-18	7.37717e-18	1	0	A	46758449	C	A	46758449	3	1	403	1	0	0	0	0	1	0	0	0	14692	478	17	4	869	4	SLC38A2	12	46758449	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	18636111	46758449	87093446	68	77304											
HOXC4	3221	broad.mit.edu	37	chr12	54447714	54447714	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagaaattaatgatcaTgagctcgtatttgatggact	13	13	8	7	1	1	4	1	3	0	1	3	5	2	5	1	1	1	2	1	1	3	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:54447714T>A	ENST00000430889.2	+	1	54	c.8T>A	c.(7-9)aTg>aAg	p.M3K	HOXC4_ENST00000303406.4_Missense_Mutation_p.M3K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTAATGATCATGAGCTCGTAT	0.398													36	61					0	0	0	0	A	54447714	T	A	54447714	3	1	403	1	0	0	0	0	1	0	0	0	7363	1464	51	5	10	5	HOXC4	12	54447714	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08	7689265	54447714	79404181	69	77305											
PLXNC1	10154	broad.mit.edu	37	chr12	94673260	94673260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcaggcattaaacgtcGtctttgaaaaaatcccggaa	13	11	8	9	3	2	1	0	1	2	0	4	2	3	2	1	2	2	2	1	2	6	3	rs139894368		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:94673260G>A	ENST00000258526.4	+	22	3859	c.3610G>A	c.(3610-3612)Gtc>Atc	p.V1204I	PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V251I	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1204					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.V1204I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATTAAACGTCGTCTTTGAAAA	0.403													16	32					0	0	0	0	A	94673260	G	A	94673260	3	1	403	1	0	0	0	0	1	0	0	0	12198	1145	40	1	3696	1	PLXNC1	12	94673260	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	40225546	94673260	39178635	70	77306											
ARL1	400	broad.mit.edu	37	chr12	101796647	101796647	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctttgtaccatacctgaTacttgtctgtcctcctaaat	8	16	6	11	0	2	1	0	1	2	0	4	1	4	1	4	1	3	1	4	1	5	6			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:101796647T>C	ENST00000261636.8	-	3	394	c.220A>G	c.(220-222)Atc>Gtc	p.I74V	ARL1_ENST00000539055.1_Missense_Mutation_p.I28V|ARL1_ENST00000536227.1_Missense_Mutation_p.I57V|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Missense_Mutation_p.I57V|ARL1_ENST00000551671.1_Missense_Mutation_p.I74V	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	74					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CCATACCTGATACTTGTCTGT	0.353													15	23					0	0	0	0	C	101796647	T	C	101796647	3	2	403	1	0	0	0	0	1	0	0	0	927	1406	49	5	341	5	ARL1	12	101796647	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08	7123387	101796647	32055248	71	77307											
FNDC3A	22862	broad.mit.edu	37	chr13	49771952	49771952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatatgttactgtgggcctgGtctcagttatgaaataaaag	12	13	11	5	0	1	1	1	1	1	0	2	2	1	1	1	2	1	2	1	2	6	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:49771952G>T	ENST00000492622.2	+	21	2737	c.2432G>T	c.(2431-2433)gGt>gTt	p.G811V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G811V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G755V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	811	Fibronectin type-III 6.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGTGGGCCTGGTCTCAGTTAT	0.413													22	57					2.37509e-13	2.74804e-13	1	0	T	49771952	G	T	49771952	3	4	403	1	0	0	0	0	1	0	0	0	6014	1261	44	4	2521	4	FNDC3A	13	49771952	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08		49771952	65397926	72	77308											
PCDH9	5101	broad.mit.edu	37	chr13	66879158	66879158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggggacccaaaggccCatctgcagaagacaagagag	13	4	12	12	1	1	3	0	0	1	3	3	5	2	4	3	3	1	1	3	3	3	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:66879158C>A	ENST00000544246.1	-	5	4034	c.3343G>T	c.(3343-3345)Ggg>Tgg	p.G1115W	PCDH9_ENST00000377865.2_Missense_Mutation_p.G1115W|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1081W|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1081W	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1115					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCCAAAGGCCCATCTGCAGAA	0.393													12	29					7.93312e-07	8.47814e-07	1	0	A	66879158	C	A	66879158	3	1	403	1	0	0	0	0	1	0	0	0	11589	594	21	4	374	4	PCDH9	13	66879158	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	17107206	66879158	48290720	73	77309											
UGGT2	55757	broad.mit.edu	37	chr13	96546844	96546844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctaagaaatgtgacatCatatcgagatgcacgcttag	13	10	8	10	2	1	3	1	1	0	2	3	4	2	3	1	0	1	2	1	0	4	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:96546844C>A	ENST00000376747.3	-	24	2897	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	943					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATGTGACATCATATCGAGAT	0.343													19	65					7.45023e-12	8.54944e-12	1	0	A	96546844	C	A	96546844	3	1	403	1	0	0	0	0	1	0	0	0	17038	826	29	2	1787	2	UGGT2	13	96546844	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	29667686	96546844	18623034	74	77310											
COL4A1	1282	broad.mit.edu	37	chr13	110853209	110853209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggagtctcacctggaggtCcgggttggcctggtagtcct	6	10	15	10	1	1	0	1	0	1	0	4	2	3	2	4	6	0	2	4	6	2	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:110853209C>T	ENST00000375820.4	-	20	1233	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G371E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	371	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTGGAGGTCCGGGTTGGCC	0.393													15	46					0	0	0	0	T	110853209	C	T	110853209	3	4	403	1	0	0	0	0	1	0	0	0	3719	855	30	2	4029	2	COL4A1	13	110853209	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	14306365	110853209	4316669	75	77311											
CTAGE5	4253	broad.mit.edu	37	chr14	39815174	39815174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttgttctaattctggtaGactgtctggaccagcagaac	10	14	9	8	0	3	2	0	0	3	2	3	3	3	3	1	2	2	3	1	2	3	6			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:39815174G>A	ENST00000553728.1	+	25	3716	c.3503G>A	c.(3502-3504)aGa>aAa	p.R1168K	CTAGE5_ENST00000341502.5_Missense_Mutation_p.R633K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R621K|CTAGE5_ENST00000557038.1_Missense_Mutation_p.R553K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R638K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R558K|CTAGE5_ENST00000280083.3_Missense_Mutation_p.R633K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R604K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R604K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.R590K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R604K																							AATTCTGGTAGACTGTCTGGA	0.348													23	49					0	0	0	0	A	39815174	G	A	39815174	3	1	403	1	0	0	0	0	1	0	0	0	4026	942	33	2	2011	2	CTAGE5	14	39815174	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08		39815174	67534366	76	77312											
NRXN3	9369	broad.mit.edu	37	chr14	80158594	80158594	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctgtagaggagtggcTgcaggaaaaaggtaaccgtc	11	7	15	8	2	0	1	0	0	0	1	2	3	0	3	2	5	2	4	2	5	4	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:80158594T>C	ENST00000428277.2	+	4	1066	c.680T>C	c.(679-681)cTg>cCg	p.L227P	NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000335750.5_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGGAGTGGCTGCAGGAAAAA	0.333													4	24					0	0	0	0	C	80158594	T	C	80158594	3	2	403	1	0	0	0	0	1	0	0	0	10738	1580	55	5	2877	5	NRXN3	14	80158594	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08	40343420	80158594	27190946	77	77313											
CLMN	79789	broad.mit.edu	37	chr14	95670794	95670794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttatctgaatcgaaaaTatcttcctgcaaaaaaaaac	17	13	3	8	1	3	1	0	1	3	0	5	2	4	1	1	0	2	1	1	0	9	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:95670794T>C	ENST00000298912.4	-	9	1005	c.892A>G	c.(892-894)Att>Gtt	p.I298V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	298						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAATCGAAAATATCTTCCTGC	0.318													9	33					0	0	0	0	C	95670794	T	C	95670794	3	2	403	1	0	0	0	0	1	0	0	0	3572	1406	49	5	2136	5	CLMN	14	95670794	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08	15512200	95670794	11678746	78	77314											
AHNAK2	113146	broad.mit.edu	37	chr14	105408332	105408332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggcgcagacacatccaCcgagacctcgatggacttgc	9	8	10	14	3	0	2	0	0	0	2	2	5	1	3	3	2	1	1	3	2	0	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105408332C>A	ENST00000333244.5	-	7	13575	c.13456G>T	c.(13456-13458)Gtg>Ttg	p.V4486L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4486						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACACATCCACCGAGACCTCG	0.562													67	158					6.26901e-30	8.20244e-30	1	0	A	105408332	C	A	105408332	3	1	403	1	0	0	0	0	1	0	0	0	415	507	18	4	3935	4	AHNAK2	14	105408332	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	9737538	105408332	1941208	79	77315											
AHNAK2	113146	broad.mit.edu	37	chr14	105416213	105416213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccccctgcatggaggggaGgctcacttcggcctccacct	5	8	12	16	1	1	0	1	0	0	0	4	2	3	2	5	5	1	2	5	5	0	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105416213G>T	ENST00000333244.5	-	7	5694	c.5575C>A	c.(5575-5577)Ctc>Atc	p.L1859I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1859						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGAGGGGAGGCTCACTTCG	0.637													128	324					1.19196e-58	1.58928e-58	1	0	T	105416213	G	T	105416213	3	4	403	1	0	0	0	0	1	0	0	0	415	1000	35	4	11816	4	AHNAK2	14	105416213	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	7881	105416213	1933327	80	77316											
PACS2	23241	broad.mit.edu	37	chr14	105821492	105821492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctacaagacgctggccgCgggctccatcagcatggctg	7	6	15	13	3	1	1	1	0	0	1	2	1	2	1	2	4	2	5	2	4	2	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105821492C>T	ENST00000447393.1	+	4	576	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PACS2_ENST00000458164.2_Missense_Mutation_p.A134V|PACS2_ENST00000325438.8_Missense_Mutation_p.A134V|PACS2_ENST00000430725.2_Missense_Mutation_p.A67V|PACS2_ENST00000547217.1_Missense_Mutation_p.A104V	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	134					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACGCTGGCCGCGGGCTCCATC	0.607													21	58					0	0	0	0	T	105821492	C	T	105821492	3	4	403	1	0	0	0	0	1	0	0	0	11444	768	27	1	415	1	PACS2	14	105821492	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	405279	105821492	1528048	81	77317											
OR4M2	390538	broad.mit.edu	37	chr15	22368779	22368779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttggctaatctggccttCcttgatatttggtactcttc	5	18	8	10	0	2	1	0	1	2	0	4	1	3	1	2	3	1	3	2	3	3	8			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:22368779C>A	ENST00000332663.2	+	1	302	c.204C>A	c.(202-204)ttC>ttA	p.F68L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCTGGCCTTCCTTGATATTT	0.413													62	336					5.73376e-24	7.36446e-24	1	0	A	22368779	C	A	22368779	3	1	403	1	0	0	0	0	1	0	0	0	11147	854	30	2	206	2	OR4M2	15	22368779	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08		22368779	80162613	82	77318											
AQR	9716	broad.mit.edu	37	chr15	35168166	35168166	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagggataaaagtttctatCtccagaatctgagcagcctc	13	10	9	9	0	3	3	0	1	3	2	5	4	3	4	2	1	2	2	2	1	4	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:35168166C>T	ENST00000156471.5	-	28	3432	c.3207G>A	c.(3205-3207)gaG>gaA	p.E1069E		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1069						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTTTCTATCTCCAGAATCT	0.358													15	48					0	0	0	0	T	35168166	C	T	35168166	2	4	403	1	0	0	0	0	0	0	0	1	837	912	32	2		2	AQR	15	35168166	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	12799387	35168166	67363226	83	77319											
CDAN1	146059	broad.mit.edu	37	chr15	43020903	43020903	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacagctgggaacacaaGatctccaacagctgggctgg	11	5	14	11	0	1	1	0	0	1	1	2	2	1	2	1	4	4	4	1	4	3	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:43020903G>T	ENST00000356231.3	-	20	2774	c.2751C>A	c.(2749-2751)atC>atA	p.I917I		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	917						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGAACACAAGATCTCCAACA	0.612													33	89					1.36161e-19	1.68696e-19	1	0	T	43020903	G	T	43020903	2	4	403	1	0	0	0	0	0	0	0	1	3083	932	33	2		2	CDAN1	15	43020903	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	7852737	43020903	59510489	84	77320											
CEP152	22995	broad.mit.edu	37	chr15	49052444	49052444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagccatcgctgatgagcaTtttgcacagctatttctacc	9	12	7	13	1	1	2	0	2	1	0	2	2	1	2	3	0	5	4	3	0	2	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:49052444T>C	ENST00000380950.2	-	19	2769	c.2582A>G	c.(2581-2583)aAt>aGt	p.N861S	CEP152_ENST00000325747.5_Missense_Mutation_p.N768S|CEP152_ENST00000399334.3_Missense_Mutation_p.N861S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	861					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			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)		CTGATGAGCATTTTGCACAGC	0.403													30	64					0	0	0	0	C	49052444	T	C	49052444	3	2	403	1	0	0	0	0	1	0	0	0	3277	1493	52	5	2414	5	CEP152	15	49052444	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08	6031541	49052444	53478948	85	77321											
KIF23	9493	broad.mit.edu	37	chr15	69728029	69728029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaagttaacccatctgttCaagaactactttgatgggga	13	12	8	8	0	3	2	2	1	1	1	3	3	3	3	1	2	3	2	1	2	5	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:69728029C>G	ENST00000260363.4	+	12	1308	c.1191C>G	c.(1189-1191)ttC>ttG	p.F397L	KIF23_ENST00000395392.2_Missense_Mutation_p.F397L|KIF23_ENST00000352331.4_Missense_Mutation_p.F397L|KIF23_ENST00000559279.1_Missense_Mutation_p.F397L|KIF23_ENST00000558585.1_Missense_Mutation_p.F214L|KIF23_ENST00000537891.1_Missense_Mutation_p.F214L	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	397					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CCCATCTGTTCAAGAACTACT	0.358													16	43					0	0	0	0	G	69728029	C	G	69728029	3	3	403	1	0	0	0	0	1	0	0	0	8342	825	29	2	1237	2	KIF23	15	69728029	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	20675585	69728029	32803363	86	77322											
CD19	930	broad.mit.edu	37	chr16	28943929	28943929	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagtcaatgtggagggCagcggtgagggccgggctgg	7	6	21	7	2	1	1	1	1	0	0	1	3	1	3	1	7	1	2	1	7	1	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:28943929C>A	ENST00000538922.1	+	2	413	c.351C>A	c.(349-351)ggC>ggA	p.G117G	CD19_ENST00000324662.3_Silent_p.G117G|CD19_ENST00000567541.1_Silent_p.G117G	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	117					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ATGTGGAGGGCAGCGGTGAGG	0.662													6	14					0.0215528	0.0220247	1	0	A	28943929	C	A	28943929	2	1	403	1	0	0	0	0	0	0	0	1	3002	697	25	4		4	CD19	16	28943929	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08		28943929	61410824	87	77323											
SRCAP	10847	broad.mit.edu	37	chr16	30735384	30735384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtggccccagcatgctcaCctgtcctggtgccagcttcg	4	9	11	17	2	1	0	1	0	0	0	3	0	2	0	6	2	4	3	6	2	0	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:30735384C>T	ENST00000262518.4	+	25	5024	c.4639C>T	c.(4639-4641)Cct>Tct	p.P1547S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1485S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1389S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1547	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCATGCTCACCTGTCCTGGT	0.572													12	49					0	0	0	0	T	30735384	C	T	30735384	3	4	403	1	0	0	0	0	1	0	0	0	15225	507	18	4	4729	4	SRCAP	16	30735384	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	1791455	30735384	59619369	88	77324											
HERPUD1	9709	broad.mit.edu	37	chr16	56974109	56974109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatcctctacttctactcctCcctgagcagattcctcatgg	7	14	5	15	0	3	2	1	1	2	1	7	2	7	2	4	1	3	1	4	1	3	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:56974109C>T	ENST00000439977.2	+	6	1054	c.857C>T	c.(856-858)tCc>tTc	p.S286F	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.S285F|HERPUD1_ENST00000379792.2_Missense_Mutation_p.S261F|HERPUD1_ENST00000570273.1_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	286						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCTACTCCTCCCTGAGCAGA	0.403			T	ERG	prostate								35	72					0	0	0	0	T	56974109	C	T	56974109	3	4	403	1	0	0	0	0	1	0	0	0	7113	855	30	2	879	2	HERPUD1	16	56974109	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	26238725	56974109	33380644	89	77325											
CHST4	10164	broad.mit.edu	37	chr16	71571477	71571477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgggattggaattcttGccccatcttcagacctgggt	6	14	11	10	1	3	1	1	0	2	1	4	3	3	3	3	3	1	0	3	3	1	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:71571477G>T	ENST00000338482.5	+	3	1240	c.897G>T	c.(895-897)ttG>ttT	p.L299F	CHST4_ENST00000539698.3_Missense_Mutation_p.L299F|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.L299F			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	299					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGAATTCTTGCCCCATCTTC	0.567											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	60					1.58986e-06	1.68622e-06	1	0	T	71571477	G	T	71571477	3	4	403	1	0	0	0	0	1	0	0	0	3435	1310	46	4	899	4	CHST4	16	71571477	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	14597368	71571477	18783276	90	77326											
WDR59	79726	broad.mit.edu	37	chr16	74927630	74927631	+	Frame_Shift_Ins	INS	-	-	A																															ggaggcaagcaatatcctggINSatgatgactttcccagcagc																										TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:74927630_74927631insA	ENST00000262144.6	-	19	2076_2077	c.1946_1947insT	c.(1945-1947)acafs	p.T649fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	649										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAATATCCTGGATGATGACTTT	0.465													29	68	---	---	---	---					A	74927631	-	A	74927630	7	5	403	1	0	1	1	0	0	0	0	0	17404	1164	41	0	1009	0	WDR59	16	74927630	Frame_Shift_Ins	INS	-	TCGA-F7-A61V-01A-11D-A28R-08	3356153	74927630	15427123	91	77327											
FGF11	2256	broad.mit.edu	37	chr17	7345999	7345999	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctctctaccgccagcgTcgttctggccgggcctggta	3	11	12	15	4	3	0	0	0	3	0	5	0	3	0	4	3	3	3	4	3	2	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:7345999T>C	ENST00000575331.1	+	3	2267	c.123T>C	c.(121-123)cgT>cgC	p.R41R	FGF11_ENST00000575235.1_Silent_p.R41R|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575398.1_Silent_p.R41R|FGF11_ENST00000575082.1_Silent_p.R41R|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000572907.1_Silent_p.R41R|FGF11_ENST00000293829.4_Silent_p.R165R			Q92914	FGF11_HUMAN	fibroblast growth factor 11	165					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACCGCCAGCGTCGTTCTGGCC	0.557													182	122					0	0	0	0	C	7345999	T	C	7345999	2	2	403	1	0	0	0	0	0	0	0	1	5885	1654	58	5		5	FGF11	17	7345999	Silent	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08		7345999	73849211	92	77328											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578414	+	In_Frame_Del	DEL	CGCCTCACA	CGCCTCACA	-																															agcgctcatggtgggggcagCgcctcacaacctccgtcatg																								rs138729528		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:7578406_7578414delCGCCTCACA	ENST00000420246.2	-	5	648_656	c.516_524delTGTGAGGCG	c.(514-525)gtc>gt	p.VVRR172del	TP53_ENST00000269305.4_In_Frame_Del_p.VVRR172del|TP53_ENST00000359597.4_In_Frame_Del_p.VVRR172del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Del_p.VVRR172del|TP53_ENST00000445888.2_In_Frame_Del_p.VVRR172del|TP53_ENST00000455263.2_In_Frame_Del_p.VVRR172del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	172	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.V173L(68)|p.V173M(46)|p.R43H(36)|p.R82H(36)|p.R175G(20)|p.R175L(19)|p.R175C(19)|p.V173A(12)|p.R174W(12)|p.V173V(8)|p.0?(8)|p.R175P(6)|p.V173G(6)|p.V80L(6)|p.V41L(6)|p.R175S(5)|p.V173fs*1(4)|p.R174fs*73(4)|p.V172V(4)|p.R174K(4)|p.R174fs*24(3)|p.R43G(3)|p.V173fs*7(3)|p.V80M(3)|p.R82G(3)|p.V41M(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.R175fs*5(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174M(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.V80fs*7(1)|p.R175_H178>X(1)|p.V173W(1)|p.R175fs*6(1)|p.V173fs*8(1)|p.R42fs*24(1)|p.R81W(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R174G(1)|p.R42W(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.E171_V172delEV(1)|p.V41fs*7(1)|p.R174fs*3(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAACCTCCGTCA	0.651	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			25	43	---	---	---	---					-	7578414	CGCCTCACA	-	7578406	7	5	403	1	0	1	0	1	0	0	0	0	16476	768	27	0	774	0	TP53	17	7578406	In_Frame_Del	DEL	CGCCTCACA	TCGA-F7-A61V-01A-11D-A28R-08	232407	7578406	73616804	93	77329											
DNAJC7	7266	broad.mit.edu	37	chr17	40134298	40134298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggtgcatcaaggcccgtttCcgataagctttcttgatctc	7	14	9	11	2	3	1	1	1	2	0	5	2	4	1	2	2	2	3	2	2	2	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:40134298C>T	ENST00000457167.4	-	11	1442	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	DNAJC7_ENST00000316603.7_Silent_p.R346R|DNAJC7_ENST00000426588.3_Silent_p.R346R	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	402	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AGGCCCGTTTCCGATAAGCTT	0.532													28	42					0	0	0	0	T	40134298	C	T	40134298	2	4	403	1	0	0	0	0	0	0	0	1	4690	842	30	2		2	DNAJC7	17	40134298	Silent	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	32555892	40134298	41060912	94	77330											
COL1A1	1277	broad.mit.edu	37	chr17	48278778	48278778	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgggacttactgtcttCgtcttggccctcgacttggc	4	15	11	11	2	2	0	0	0	2	0	4	2	2	1	1	3	1	1	1	3	1	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:48278778C>A	ENST00000225964.5	-	1	215	c.97G>T	c.(97-99)Gaa>Taa	p.E33*		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	33					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACTGTCTTCGTCTTGGCCC	0.587			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						8	20					5.18039e-06	5.45304e-06	1	0	A	48278778	C	A	48278778	4	1	403	1	0	0	0	0	0	1	0	0	3707	893	31	3	4501	3	COL1A1	17	48278778	Nonsense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	8144480	48278778	32916432	95	77331											
BRIP1	83990	broad.mit.edu	37	chr17	59770874	59770874	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttctgtgtctaatacatCtagaaaaaatagggaaaaag	18	11	7	5	0	3	1	0	0	3	1	3	2	3	2	0	1	1	0	0	1	9	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:59770874C>G	ENST00000259008.2	-	18	2760		c.e18-1		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTAATACATCTAGAAAAAAT	0.343			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					12	45					0	0	0	0	G	59770874	C	G	59770874	5	3	403	1	0	0	0	0	0	0	1	0	1522	927	32	2	1269	2	BRIP1	17	59770874	Splice_Site	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	11492096	59770874	21424336	96	77332											
RAB37	326624	broad.mit.edu	37	chr17	72741214	72741217	+	Frame_Shift_Del	DEL	CCAT	CCAT	-																															tgtggagttagcctttctggCcatcgccaagtgagagctgg																										TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:72741214_72741217delCCAT	ENST00000340415.3	+	8	1545_1548	c.536_539delCCAT	c.(535-540)gcfs	p.AI179fs	RAB37_ENST00000402449.4_Frame_Shift_Del_p.AI179fs|RAB37_ENST00000392612.3_Frame_Shift_Del_p.AI149fs|RAB37_ENST00000392613.5_Frame_Shift_Del_p.AI186fs|RAB37_ENST00000392610.1_Frame_Shift_Del_p.AI186fs|RAB37_ENST00000392615.5_Frame_Shift_Del_p.AI154fs|RAB37_ENST00000528438.1_Frame_Shift_Del_p.AI159fs|RAB37_ENST00000392614.4_Frame_Shift_Del_p.AI191fs	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	186					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GCCTTTCTGGCCATCGCCAAGTGA	0.647											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	48	---	---	---	---					-	72741217	CCAT	-	72741214	7	5	403	1	0	1	0	1	0	0	0	0	13009	739	26	0	890	0	RAB37	17	72741214	Frame_Shift_Del	DEL	CCAT	TCGA-F7-A61V-01A-11D-A28R-08	12970340	72741214	8453996	97	77333											
FN3K	64122	broad.mit.edu	37	chr17	80696461	80696461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatgaaggtcatcgacctgCcgggaggtggggccgccttt	6	8	15	12	3	1	1	1	1	0	0	2	3	1	2	5	5	1	0	5	5	1	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:80696461C>T	ENST00000300784.7	+	2	300	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	80					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CATCGACCTGCCGGGAGGTGG	0.627													25	66					0	0	0	0	T	80696461	C	T	80696461	3	4	403	1	0	0	0	0	1	0	0	0	6008	739	26	4	244	4	FN3K	17	80696461	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	7955247	80696461	498749	98	77334											
LAMA3	3909	broad.mit.edu	37	chr18	21512157	21512157	+	Frame_Shift_Del	DEL	A	A	-																															atcgatgaccagcttctgagAaatagcaaaaggctaaaaca																										TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr18:21512157delA	ENST00000313654.9	+	66	8851	c.8610delA	c.(8608-8610)agfs	p.R2870fs	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Del_p.R1205fs|LAMA3_ENST00000269217.6_Frame_Shift_Del_p.R1261fs|LAMA3_ENST00000399516.3_Frame_Shift_Del_p.R2814fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2870	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTTCTGAGAAATAGCAAAA	0.473													54	107	---	---	---	---					-	21512157	A	-	21512157	7	5	403	1	0	1	0	1	0	0	0	0	8660	243	9	0	9047	0	LAMA3	18	21512157	Frame_Shift_Del	DEL	A	TCGA-F7-A61V-01A-11D-A28R-08		21512157	56565091	99	77335											
C19orf45	374877	broad.mit.edu	37	chr19	7569253	7569253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctatggatcaacgtgttcGgagcagaaacaggcctacag	13	7	12	9	2	1	1	1	0	0	1	2	3	1	3	1	3	5	3	1	3	4	3	rs146786010	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:7569253G>A	ENST00000361664.2	+	4	879	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	246										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CAACGTGTTCGGAGCAGAAAC	0.597													41	107					0	0	0	0	A	7569253	G	A	7569253	2	1	403	1	0	0	0	0	0	0	0	1	1946	1103	39	1		1	C19orf45	19	7569253	Silent	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08		7569253	51559730	100	77336											
ECSIT	51295	broad.mit.edu	37	chr19	11617043	11617043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcaggttgtcgtcttcttCctggtggtcctcgggcaggg	2	13	15	11	2	2	0	0	0	2	0	6	0	4	0	2	5	1	3	2	5	0	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:11617043C>T	ENST00000270517.7	-	8	1387	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.E204K	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	418					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCGTCTTCTTCCTGGTGGTCC	0.701													28	77					0	0	0	0	T	11617043	C	T	11617043	3	4	403	1	0	0	0	0	1	0	0	0	4936	864	30	2	47	2	ECSIT	19	11617043	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	4047790	11617043	47511940	101	77337											
GDF15	9518	broad.mit.edu	37	chr19	18497036	18497036	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggacggtgaatggctctCagatgctcctggtgttgctg	6	12	14	9	1	2	2	2	1	1	1	4	3	3	3	1	4	2	4	1	4	1	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:18497036C>G	ENST00000595973.1	+	2	588	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	GDF15_ENST00000252809.3_Missense_Mutation_p.Q13E			Q99988	GDF15_HUMAN	growth differentiation factor 15	13					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GAATGGCTCTCAGATGCTCCT	0.642													18	51					0	0	0	0	G	18497036	C	G	18497036	3	3	403	1	0	0	0	0	1	0	0	0	6364	827	29	2	39	2	GDF15	19	18497036	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	6879993	18497036	40631947	102	77338											
ETV2	2116	broad.mit.edu	37	chr19	36135623	36135623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagctgagccggggccttCgctactactatcgccgcgac	8	7	12	14	5	0	2	0	1	0	1	2	3	0	2	3	2	4	2	3	2	4	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:36135623C>T	ENST00000379026.2	+	6	1421	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	ETV2_ENST00000402764.2_Missense_Mutation_p.R300C|ETV2_ENST00000403402.1_Missense_Mutation_p.R300C|ETV2_ENST00000479824.1_Missense_Mutation_p.R207C|ETV2_ENST00000379023.4_Missense_Mutation_p.R113C			B9EIN1	B9EIN1_HUMAN	ets variant 2	300							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGGGGCCTTCGCTACTACTA	0.662													15	36					0	0	0	0	T	36135623	C	T	36135623	3	4	403	1	0	0	0	0	1	0	0	0	5316	884	31	1	920	1	ETV2	19	36135623	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	17638587	36135623	22993360	103	77339											
LILRB5	10990	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													5	67					0	0	0	0	G	54754843	A	G	54754843	3	3	403	1	0	0	0	0	1	0	0	0	8848	319	11	5		5	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08	18619220	54754843	4374140	104	77340											
LILRB1	10859	broad.mit.edu	37	chr19	55143173	55143173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgcagggcggtatcgctGttactatggtagcgacactg	9	10	13	9	3	0	0	0	0	0	0	1	1	0	0	0	3	3	5	0	3	4	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:55143173G>A	ENST00000396331.1	+	5	650	c.293G>A	c.(292-294)tGt>tAt	p.C98Y	LILRB1_ENST00000434867.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000427581.2_Missense_Mutation_p.C134Y|LILRB1_ENST00000396321.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000448689.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000418536.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000396315.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000324602.7_Missense_Mutation_p.C98Y|LILRB1_ENST00000396317.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000396332.4_Missense_Mutation_p.C98Y|LILRB1_ENST00000396327.3_Missense_Mutation_p.C98Y	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	98	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGGTATCGCTGTTACTATGGT	0.587										HNSCC(37;0.09)			36	86					0	0	0	0	A	55143173	G	A	55143173	3	1	403	1	0	0	0	0	1	0	0	0	8844	1377	48	4	303	4	LILRB1	19	55143173	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	388330	55143173	3985810	105	77341											
NLRP9	338321	broad.mit.edu	37	chr19	56220391	56220391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcttctgagtttcttcatCaaagccagatttgtgcagcc	9	14	8	10	0	5	2	2	1	3	1	5	3	5	2	2	0	3	2	2	0	1	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:56220391C>G	ENST00000332836.2	-	9	2890	c.2863G>C	c.(2863-2865)Gat>Cat	p.D955H	CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	955						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTCTTCATCAAAGCCAGAT	0.383													8	22					0	0	0	0	G	56220391	C	G	56220391	3	3	403	1	0	0	0	0	1	0	0	0	10554	826	29	2	116	2	NLRP9	19	56220391	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	1077218	56220391	2908592	106	77342											
ZNF835	90485	broad.mit.edu	37	chr19	57176541	57176541	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaactctgcgccctggAgggcgacgctcaagagtccc	7	7	11	16	3	2	1	1	0	1	1	4	3	4	2	3	2	2	1	3	2	2	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:57176541A>T	ENST00000537055.2	-	2	257	c.26T>A	c.(25-27)cTc>cAc	p.L9H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCGCCCTGGAGGGCGACGCT	0.532													8	54					0	0	0	0	T	57176541	A	T	57176541	3	4	403	1	0	0	0	0	1	0	0	0	18279	304	11	5	1589	5	ZNF835	19	57176541	Missense_Mutation	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08	956150	57176541	1952442	107	77343											
TAF4	6874	broad.mit.edu	37	chr20	60589725	60589725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggcctgctgaggaatcaTtaacaactgcccattctcac	12	9	7	13	0	2	1	2	1	1	0	3	2	2	2	2	2	4	1	2	2	4	2			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr20:60589725T>C	ENST00000252996.3	-	2	1398	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	467					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGAGGAATCATTAACAACTGC	0.632													46	87					0	0	0	0	C	60589725	T	C	60589725	3	2	403	1	0	0	0	0	1	0	0	0	15617	1493	52	5	1914	5	TAF4	20	60589725	Missense_Mutation	SNP	T	TCGA-F7-A61V-01A-11D-A28R-08		60589725	2435795	108	77344											
RPL3	6122	broad.mit.edu	37	chr22	39710694	39710694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactctcagaacctcaccttCttgttgatctcagtgcggtg	7	13	8	13	1	4	2	3	1	3	1	6	2	4	2	2	1	2	1	2	1	1	3			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39710694C>G	ENST00000216146.4	-	6	1019	c.846G>C	c.(844-846)aaG>aaC	p.K282N	RPL3_ENST00000401609.1_Missense_Mutation_p.K230N|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	282					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					ACCTCACCTTCTTGTTGATCT	0.597													8	22					0	0	0	0	G	39710694	C	G	39710694	3	3	403	1	0	0	0	0	1	0	0	0	13664	912	32	2	385	2	RPL3	22	39710694	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08		39710694	11593872	109	77345			1	115		3	3	2918	C		5.826992e-05
RPL3	6122	broad.mit.edu	37	chr22	39710705	39710705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcaccttcttgttgatctCagtgcggtgatggtagcctt	5	15	10	11	1	3	2	2	2	2	0	4	2	3	2	3	2	2	2	3	2	1	5			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39710705C>T	ENST00000216146.4	-	6	1008	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RPL3_ENST00000401609.1_Missense_Mutation_p.E227K|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	279					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TTGTTGATCTCAGTGCGGTGA	0.612													8	24					0	0	0	0	T	39710705	C	T	39710705	3	4	403	1	0	0	0	0	1	0	0	0	13664	835	29	2	396	2	RPL3	22	39710705	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	11	39710705	11593861	110	77346			1	115		3	3	2918	C		5.826992e-05
RPL3	6122	broad.mit.edu	37	chr22	39713611	39713611	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctacaatggtcacagcctCcaccacctccttcttgttca	8	12	4	17	0	4	0	2	0	2	0	6	0	6	0	5	1	2	1	5	1	2	4			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39713611C>A	ENST00000216146.4	-	3	393	c.220G>T	c.(220-222)Gag>Tag	p.E74*	RPL3_ENST00000401609.1_Nonsense_Mutation_p.E22*|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					GTCACAGCCTCCACCACCTCC	0.512													56	160					9.16383e-17	1.1156e-16	1	0	A	39713611	C	A	39713611	4	1	403	1	0	0	0	0	0	1	0	0	13664	864	30	2	1023	2	RPL3	22	39713611	Nonsense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	2906	39713611	11590955	111	77347			1	115		3	3	2918	C		5.826992e-05
TRMU	55687	broad.mit.edu	37	chr22	46749736	46749736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctggtacgtggtggagaAggacagcgtcaagggtgacg	9	6	18	8	3	1	2	1	1	0	1	1	4	1	3	1	5	2	1	1	5	3	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:46749736A>G	ENST00000290846.4	+	8	1185	c.845A>G	c.(844-846)aAg>aGg	p.K282R	TRMU_ENST00000381019.3_Missense_Mutation_p.K282R	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	282						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GTGGTGGAGAAGGACAGCGTC	0.587													32	85					0	0	0	0	G	46749736	A	G	46749736	3	3	403	1	0	0	0	0	1	0	0	0	16666	72	3	5	875	5	TRMU	22	46749736	Missense_Mutation	SNP	A	TCGA-F7-A61V-01A-11D-A28R-08	7036125	46749736	4554830	112	77348											
CHKB	1120	broad.mit.edu	37	chr22	51018459	51018459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtagaaaggccattcctCgtgagtataatcataaaccc	13	12	7	9	1	1	2	1	1	0	1	3	2	2	2	3	1	1	2	3	1	6	6			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:51018459C>T	ENST00000406938.2	-	8	1088	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	291					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGCCATTCCTCGTGAGTATAA	0.527													21	77					0	0	0	0	T	51018459	C	T	51018459	3	4	403	1	0	0	0	0	1	0	0	0	3377	893	31	1	332	1	CHKB	22	51018459	Missense_Mutation	SNP	C	TCGA-F7-A61V-01A-11D-A28R-08	4268723	51018459	286107	113	77349											
GUCY2F	2986	broad.mit.edu	37	chrX	108708493	108708493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcataggcttcccggaGctttgggttgttccttagga	6	14	12	9	1	1	0	1	0	0	0	3	2	3	2	2	4	2	5	2	4	2	6			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chrX:108708493G>A	ENST00000218006.2	-	3	1201	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	304					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTTCCCGGAGCTTTGGGTTG	0.483													55	40					0	0	0	0	A	108708493	G	A	108708493	3	1	403	1	0	0	0	0	1	0	0	0	6948	971	34	4	2484	4	GUCY2F	23	108708493	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08		108708493	46562067	114	77350											
ELF4	2000	broad.mit.edu	37	chrX	129201241	129201241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttgggggaggccactgaGaatcagtggagcccctgggg	9	6	18	8	0	1	1	1	1	0	1	1	4	1	3	3	6	1	1	3	6	2	1			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chrX:129201241G>A	ENST00000308167.5	-	9	1826	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F	ELF4_ENST00000335997.7_Missense_Mutation_p.L483F	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	483					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGGCCACTGAGAATCAGTGGA	0.647			T	ERG	AML								27	26					0	0	0	0	A	129201241	G	A	129201241	3	1	403	1	0	0	0	0	1	0	0	0	5094	942	33	2	548	2	ELF4	23	129201241	Missense_Mutation	SNP	G	TCGA-F7-A61V-01A-11D-A28R-08	20492748	129201241	26069319	115	77351											
PAQR7	164091	broad.mit.edu	37	chr1	26189386	26189386	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagcaggaagaggccagaAaagttgtgaggccagtgcgt	12	6	17	6	1	0	4	0	2	0	2	0	5	0	5	2	3	2	2	2	3	3	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:26189386A>C	ENST00000374296.3	-	2	1611	c.945T>G	c.(943-945)ttT>ttG	p.F315L	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	315					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGCCAGAAAAGTTGTGAG	0.592													35	63					0	0	0	0	C	26189386	A	C	26189386	3	2	404	1	0	0	0	0	1	0	0	0	11511	11	1	5	99	5	PAQR7	1	26189386	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08		26189386	223061235	1	77352											
COL8A2	1296	broad.mit.edu	37	chr1	36564394	36564394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccctggctcccctttggcCcctgatgggccctgtggtcc	1	11	12	17	0	0	1	0	1	0	0	3	1	3	1	7	4	0	1	7	4	0	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:36564394C>T	ENST00000397799.1	-	4	1112	c.888G>A	c.(886-888)ggG>ggA	p.G296G	COL8A2_ENST00000481785.1_Silent_p.G231G|COL8A2_ENST00000303143.4_Silent_p.G296G			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	296	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCTTTGGCCCCTGATGGGC	0.706													16	40					0	0	0	0	T	36564394	C	T	36564394	2	4	404	1	0	0	0	0	0	0	0	1	3736	610	22	4		4	COL8A2	1	36564394	Silent	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	10375008	36564394	212686227	2	77353											
CYP4A11	1579	broad.mit.edu	37	chr1	47398680	47398680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgggccacacttttgggTtgtggtgaaggccataaatg	8	12	15	6	0	0	1	0	1	0	0	0	1	0	1	2	5	0	2	2	5	3	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:47398680T>C	ENST00000310638.4	-	10	1293	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S	CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371905.1_Missense_Mutation_p.N421S|CYP4A11_ENST00000371904.4_Missense_Mutation_p.N422S	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	421					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CACTTTTGGGTTGTGGTGAAG	0.517													12	391					0	0	0	0	C	47398680	T	C	47398680	3	2	404	1	0	0	0	0	1	0	0	0	4215	1725	60	5	309	5	CYP4A11	1	47398680	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	10834286	47398680	201851941	3	77354											
CYP4A22	284541	broad.mit.edu	37	chr1	47611577	47611577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttatggccttcaccacaAcccaaaagtgtggcccaacc	12	8	6	15	0	1	0	1	0	0	0	1	0	1	0	5	2	2	0	5	2	5	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:47611577A>G	ENST00000371891.3	+	10	1293	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S	CYP4A22_ENST00000294337.3_Missense_Mutation_p.N421S|CYP4A22_ENST00000371890.3_Missense_Mutation_p.N323S|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	421						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCACCACAACCCAAAAGTG	0.517													150	230					0	0	0	0	G	47611577	A	G	47611577	3	3	404	1	0	0	0	0	1	0	0	0	4216	43	2	5	1300	5	CYP4A22	1	47611577	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	212897	47611577	201639044	4	77355											
BTBD8	284697	broad.mit.edu	37	chr1	92604962	92604962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatatatggaggaactctgGacattccagacaaaactaat	16	11	7	7	0	1	1	0	0	1	1	2	4	2	4	1	3	2	0	1	3	7	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:92604962G>T	ENST00000370382.3	+	6	1075	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	BTBD8_ENST00000540648.1_Missense_Mutation_p.D270Y|BTBD8_ENST00000342818.3_Missense_Mutation_p.D270Y			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	270	BTB 2.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AGGAACTCTGGACATTCCAGA	0.303													21	44					1.87028e-06	2.04381e-06	1	0	T	92604962	G	T	92604962	3	4	404	1	0	0	0	0	1	0	0	0	1556	1174	41	2	830	2	BTBD8	1	92604962	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	44993385	92604962	156645659	5	77356											
ARHGAP29	9411	broad.mit.edu	37	chr1	94640173	94640173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttacaggtctaatcttgGtccttggagtatgcctctcc	8	14	8	11	0	3	0	0	0	3	0	5	1	4	1	3	3	3	1	3	3	4	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:94640173G>A	ENST00000260526.6	-	23	3220	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1013					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTAATCTTGGTCCTTGGAGT	0.398													47	75					0	0	0	0	A	94640173	G	A	94640173	3	1	404	1	0	0	0	0	1	0	0	0	880	1261	44	4	751	4	ARHGAP29	1	94640173	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	2035211	94640173	154610448	6	77357											
TAF13	6884	broad.mit.edu	37	chr1	109607266	109607266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaatcaagaagacgataTcttcaacttgtactcgacct	13	12	6	10	3	3	2	2	0	1	2	5	5	3	2	1	0	2	1	1	0	6	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:109607266T>C	ENST00000338366.5	-	4	308	c.254A>G	c.(253-255)gAt>gGt	p.D85G		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	85					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAAGACGATATCTTCAACTTG	0.333													68	101					0	0	0	0	C	109607266	T	C	109607266	3	2	404	1	0	0	0	0	1	0	0	0	15608	1435	50	5	124	5	TAF13	1	109607266	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	14967093	109607266	139643355	7	77358											
ABL2	27	broad.mit.edu	37	chr1	179077872	179077872	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttttggtctctccctgcTtggagcagcactttcctctg	3	15	10	13	0	2	0	0	0	2	0	5	1	4	1	2	3	3	4	2	3	0	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:179077872T>A	ENST00000502732.1	-	12	2733	c.2530A>T	c.(2530-2532)Agc>Tgc	p.S844C	ABL2_ENST00000512653.1_Missense_Mutation_p.S829C|ABL2_ENST00000367623.4_Missense_Mutation_p.S823C|ABL2_ENST00000504405.1_Missense_Mutation_p.S705C|ABL2_ENST00000511413.1_Missense_Mutation_p.S741C|ABL2_ENST00000507173.1_Missense_Mutation_p.S720C|ABL2_ENST00000408940.3_Missense_Mutation_p.S808C|ABL2_ENST00000344730.3_Missense_Mutation_p.S726C	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	844	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTCTCCCTGCTTGGAGCAGCA	0.522			T	ETV6	AML								53	57					0	0	0	0	A	179077872	T	A	179077872	3	1	404	1	0	0	0	0	1	0	0	0	93	1609	56	5	1022	5	ABL2	1	179077872	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	69470606	179077872	70172749	8	77359											
RGPD4	285190	broad.mit.edu	37	chr2	108488115	108488115	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaaacaaaagtcactgagGaagaaaataagggttcaggt	19	7	10	5	0	3	2	3	1	0	1	3	3	3	3	0	3	1	1	0	3	7	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:108488115G>T	ENST00000408999.3	+	20	3732	c.3655G>T	c.(3655-3657)Gaa>Taa	p.E1219*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.E1219*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1219					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGTCACTGAGGAAGAAAATAA	0.423													7	185					1.58986e-06	1.75547e-06	1	0	T	108488115	G	T	108488115	4	4	404	1	0	0	0	0	0	1	0	0	13370	1175	41	2	3733	2	RGPD4	2	108488115	Nonsense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08		108488115	134711258	9	77360											
ZC3H15	55854	broad.mit.edu	37	chr2	187359982	187359982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaactttcggtttgaagaAtaagaaaggagcaaagcaac	19	7	9	6	1	0	3	0	1	0	2	1	4	0	4	0	2	4	3	0	2	8	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:187359982A>G	ENST00000337859.6	+	2	325	c.98A>G	c.(97-99)aAt>aGt	p.N33S	ZC3H15_ENST00000544130.1_5'UTR|ZC3H15_ENST00000468120.1_3'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	33						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GGTTTGAAGAATAAGAAAGGA	0.323													12	18					0	0	0	0	G	187359982	A	G	187359982	3	3	404	1	0	0	0	0	1	0	0	0	17662	101	4	5	104	5	ZC3H15	2	187359982	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	78871867	187359982	55839391	10	77361											
GTF3C3	9330	broad.mit.edu	37	chr2	197641346	197641346	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatatagcctaaggccttTaaacattctaagatgatgtt	13	14	6	8	0	1	2	0	1	1	1	2	2	2	2	3	1	2	1	3	1	6	8			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:197641346T>C	ENST00000263956.3	-	11	1487	c.1398A>G	c.(1396-1398)ttA>ttG	p.L466L		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	466						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTAAGGCCTTTAAACATTCTA	0.378													8	75					0	0	0	0	C	197641346	T	C	197641346	2	2	404	1	0	0	0	0	0	0	0	1	6924	1751	61	5		5	GTF3C3	2	197641346	Silent	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	10281364	197641346	45558027	11	77362											
SPEG	10290	broad.mit.edu	37	chr2	220354174	220354174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccctagctcctgctgccCccacacccccgtcagtcact	6	7	5	23	1	2	0	2	0	0	0	3	0	3	0	7	0	3	2	7	0	1	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:220354174C>A	ENST00000312358.7	+	36	8566	c.8434C>A	c.(8434-8436)Ccc>Acc	p.P2812T	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2812	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTGCTGCCCCCACACCCCC	0.672													59	61					1.93748e-29	2.25684e-29	1	0	A	220354174	C	A	220354174	3	1	404	1	0	0	0	0	1	0	0	0	15126	623	22	4	8588	4	SPEG	2	220354174	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	22712828	220354174	22845199	12	77363											
COL4A4	1286	broad.mit.edu	37	chr2	228012208	228012208	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagaccacatcgcaggcaAgtcttagtacttaaaaaata	17	8	7	9	1	1	1	0	0	1	1	2	2	1	1	1	1	1	3	1	1	7	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:228012208A>T	ENST00000396625.3	-	0	199				COL4A4_ENST00000329662.7_De_novo_Start_InFrame	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCGCAGGCAAGTCTTAGTAC	0.453													55	153					0	0	0	0	T	228012208	A	T	228012208	1	4	404	1	0	0	0	0	0	0	0	0	3723	87	3	5		5	COL4A4	2	228012208	Translation_Start_Site	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	7658034	228012208	15187165	13	77364											
KIF15	56992	broad.mit.edu	37	chr3	44856411	44856411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgttttttagttttgaaaAgtgaggtacatgacctgcga	10	17	10	4	1	0	3	0	3	0	0	0	4	0	3	1	1	2	3	1	1	4	7			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:44856411A>G	ENST00000326047.4	+	20	2541	c.2392A>G	c.(2392-2394)Agt>Ggt	p.S798G	KIF15_ENST00000425755.1_Missense_Mutation_p.S433G	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	798					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTTTTGAAAAGTGAGGTACA	0.353													30	11					0	0	0	0	G	44856411	A	G	44856411	3	3	404	1	0	0	0	0	1	0	0	0	8328	72	3	5	2470	5	KIF15	3	44856411	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08		44856411	153166019	14	77365											
SCAP	22937	broad.mit.edu	37	chr3	47455799	47455799	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacggtgagcaaacacAtggctgacccggctgccagt	9	6	11	15	2	0	2	0	2	0	0	1	2	1	2	4	3	3	3	4	3	1	0			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:47455799A>G	ENST00000265565.5	-	22	3877	c.3465T>C	c.(3463-3465)caT>caC	p.H1155H	SCAP_ENST00000441517.2_Silent_p.H899H|SCAP_ENST00000545718.1_Silent_p.H762H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1155	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGCAAACACATGGCTGACCC	0.602													34	13					0	0	0	0	G	47455799	A	G	47455799	2	3	404	1	0	0	0	0	0	0	0	1	13963	214	8	5		5	SCAP	3	47455799	Silent	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	2599388	47455799	150566631	15	77366											
GPR128	84873	broad.mit.edu	37	chr3	100413810	100413810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtactgaggaaatcacaCtctctgaaagtgacaatgca	15	8	9	9	1	2	3	1	3	1	0	3	5	2	4	0	1	2	2	0	1	4	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:100413810C>G	ENST00000273352.3	+	16	2627	c.2359C>G	c.(2359-2361)Ctc>Gtc	p.L787V	GPR128_ENST00000475887.1_Missense_Mutation_p.L492V|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	787					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGAAATCACACTCTCTGAAAG	0.413													25	53					0	0	0	0	G	100413810	C	G	100413810	3	3	404	1	0	0	0	0	1	0	0	0	6690	565	20	4	2421	4	GPR128	3	100413810	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	52958011	100413810	97608620	16	77367											
DHX36	170506	broad.mit.edu	37	chr3	154022739	154022739	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggatttcatcaagtacgaTatgactaacactggacaaat	16	11	7	7	1	2	1	2	1	0	0	2	4	2	3	0	2	2	1	0	2	5	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:154022739T>A	ENST00000496811.1	-	8	1071	c.991A>T	c.(991-993)Atc>Ttc	p.I331F	DHX36_ENST00000308361.6_Missense_Mutation_p.I331F|DHX36_ENST00000329463.5_Missense_Mutation_p.I331F|DHX36_ENST00000544526.1_Missense_Mutation_p.I331F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	331	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCAAGTACGATATGACTAACA	0.294													18	18					0	0	0	0	A	154022739	T	A	154022739	3	1	404	1	0	0	0	0	1	0	0	0	4546	1406	49	5	2107	5	DHX36	3	154022739	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	53608929	154022739	43999691	17	77368											
ATP10D	57205	broad.mit.edu	37	chr4	47525029	47525029	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taacttttttttaattacagGaaagagaaaaaatacattga	19	14	5	3	0	0	2	0	1	0	1	0	4	0	3	0	1	3	0	0	1	8	8			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr4:47525029G>T	ENST00000273859.3	+	4	755	c.485_splice	c.e4-1	p.R162_splice	ATP10D_ENST00000504445.1_Splice_Site_p.R162_splice	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	162					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ttaattaCAGGAAAGAGAAAA	0.303													8	27					0.00448238	0.00456858	1	0	T	47525029	G	T	47525029	5	4	404	1	0	0	0	0	0	0	1	0	1122	1188	41	2	496	2	ATP10D	4	47525029	Splice_Site	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08		47525029	143629247	18	77369											
HERC6	55008	broad.mit.edu	37	chr4	89314703	89314703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtggtttatatcagctGtggtgatgcacacactgcgg	8	12	14	7	1	1	1	1	1	0	0	1	1	1	1	0	4	3	3	0	4	2	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr4:89314703G>A	ENST00000380265.5	+	5	911	c.728G>A	c.(727-729)tGt>tAt	p.C243Y	HERC6_ENST00000264346.7_Missense_Mutation_p.C243Y|HERC6_ENST00000273960.3_Missense_Mutation_p.C243Y	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	243					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TATATCAGCTGTGGTGATGCA	0.403													5	13					0	0	0	0	A	89314703	G	A	89314703	3	1	404	1	0	0	0	0	1	0	0	0	7112	1377	48	4	543	4	HERC6	4	89314703	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	41789674	89314703	101839573	19	77370											
MTRR	4552	broad.mit.edu	37	chr5	7892899	7892899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacattgtggaatttctgtCtactgccacaacagaggttc	11	12	8	10	0	2	1	0	0	2	1	3	2	2	2	1	2	4	1	1	2	4	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr5:7892899C>G	ENST00000264668.2	+	11	1541	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	MTRR_ENST00000440940.2_Missense_Mutation_p.S477C	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	504	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	p.S504F(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GAATTTCTGTCTACTGCCACA	0.438													5	132					0	0	0	0	G	7892899	C	G	7892899	3	3	404	1	0	0	0	0	1	0	0	0	10031	913	32	2	1553	2	MTRR	5	7892899	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08		7892899	173022361	20	77371											
ISL1	3670	broad.mit.edu	37	chr5	50689350	50689350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttttcagaaggaggacCgggctctaattccactggca	11	10	10	10	1	2	1	1	0	1	1	3	3	3	3	2	4	0	2	2	4	3	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr5:50689350C>T	ENST00000230658.7	+	6	1541	c.956C>T	c.(955-957)cCg>cTg	p.P319L	ISL1_ENST00000511384.1_Missense_Mutation_p.P296L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	319	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GAAGGAGGACCGGGCTCTAAT	0.393													4	40					0	0	0	0	T	50689350	C	T	50689350	3	4	404	1	0	0	0	0	1	0	0	0	7909	652	23	1	978	1	ISL1	5	50689350	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	42796451	50689350	130225910	21	77372											
MAP1B	4131	broad.mit.edu	37	chr5	71482572	71482572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcatagagattttcacCgatcaagaggtaggttcgtg	12	12	10	7	2	3	2	3	0	0	2	4	4	3	2	1	2	1	2	1	2	4	6	rs111766097	byFrequency	TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr5:71482572C>T	ENST00000296755.7	+	4	799	c.501C>T	c.(499-501)acC>acT	p.T167T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	167						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGATTTTCACCGATCAAGAGG	0.493													42	17					0	0	0	0	T	71482572	C	T	71482572	2	4	404	1	0	0	0	0	0	0	0	1	9297	639	23	1		1	MAP1B	5	71482572	Silent	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	20793222	71482572	109432688	22	77373											
ANKHD1	54882	broad.mit.edu	37	chr5	139819838	139819838	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttgttcagcagggtattAtgaattagcacaagtaagca	13	11	11	6	0	1	1	1	1	0	0	1	1	1	1	0	2	3	7	0	2	6	6			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr5:139819838A>G	ENST00000297183.6	+	4	876	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Y251C|ANKHD1_ENST00000394722.3_Missense_Mutation_p.Y240C|ANKHD1_ENST00000394723.3_Missense_Mutation_p.Y251C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.Y251C	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGGTATTATGAATTAGCA	0.323													42	23					0	0	0	0	G	139819838	A	G	139819838	3	3	404	1	0	0	0	0	1	0	0	0	628	449	16	5	766	5	ANKHD1	5	139819838	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	68337266	139819838	41095422	23	77374											
KCTD20	222658	broad.mit.edu	37	chr6	36454762	36454762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccagatgtcatgggaaaAggaagaagggaagagtcgcc	15	5	14	7	1	1	3	1	0	0	3	3	6	2	6	2	3	0	0	2	3	5	0			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:36454762A>G	ENST00000373731.2	+	8	1461	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	KCTD20_ENST00000449081.2_Missense_Mutation_p.K191R|KCTD20_ENST00000544295.1_Missense_Mutation_p.K111R|KCTD20_ENST00000536244.1_Missense_Mutation_p.K212R|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	357						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TCATGGGAAAAGGAAGAAGGG	0.478													4	152					0	0	0	0	G	36454762	A	G	36454762	3	3	404	1	0	0	0	0	1	0	0	0	8161	72	3	5	1096	5	KCTD20	6	36454762	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08		36454762	134660305	24	77375											
TMEM200A	114801	broad.mit.edu	37	chr6	130762093	130762093	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcacacgctaagaatcAaggagcaaaggcaaatgaac	19	5	8	9	1	2	2	2	1	0	1	2	3	2	3	0	2	2	3	0	2	6	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:130762093A>C	ENST00000392429.1	+	2	2904	c.526A>C	c.(526-528)Aag>Cag	p.K176Q	TMEM200A_ENST00000296978.3_Missense_Mutation_p.K176Q|TMEM200A_ENST00000545622.1_Missense_Mutation_p.K176Q	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	176						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCTAAGAATCAAGGAGCAAAG	0.428													27	51					0	0	0	0	C	130762093	A	C	130762093	3	2	404	1	0	0	0	0	1	0	0	0	16217	131	5	5	528	5	TMEM200A	6	130762093	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	94307331	130762093	40352974	25	77376											
PDE7B	27115	broad.mit.edu	37	chr6	136476804	136476804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggacatcatgcttggaCtgctggctgcagcagcacac	8	9	11	13	0	2	0	1	0	1	0	2	2	2	2	0	3	5	6	0	3	0	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:136476804C>T	ENST00000308191.6	+	8	922	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	207	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CATGCTTGGACTGCTGGCTGC	0.448													23	28					0	0	0	0	T	136476804	C	T	136476804	2	4	404	1	0	0	0	0	0	0	0	1	11723	564	20	4		4	PDE7B	6	136476804	Silent	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	5714711	136476804	34638263	26	77377											
UST	10090	broad.mit.edu	37	chr6	149395184	149395184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcccaactccactggaaAccgaggagccaatcgacgat	13	7	8	13	3	0	0	0	0	0	0	3	5	2	2	4	2	3	0	4	2	4	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:149395184A>G	ENST00000367463.4	+	8	1256	c.1153A>G	c.(1153-1155)Acc>Gcc	p.T385A	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	385					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TCCACTGGAAACCGAGGAGCC	0.488													5	75					0	0	0	0	G	149395184	A	G	149395184	3	3	404	1	0	0	0	0	1	0	0	0	17189	43	2	5	1183	5	UST	6	149395184	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	12918380	149395184	21719883	27	77378											
PDE10A	10846	broad.mit.edu	37	chr6	165792844	165792844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagtggagaagatattGtgcccttccaactagggaaa	13	9	11	8	0	1	3	1	0	0	3	2	5	2	4	2	2	2	0	2	2	5	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:165792844G>C	ENST00000366882.1	-	19	1948	c.1794C>G	c.(1792-1794)caC>caG	p.H598Q	PDE10A_ENST00000354448.4_Missense_Mutation_p.H598Q|PDE10A_ENST00000539869.2_Missense_Mutation_p.H608Q			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	598					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAAGATATTGTGCCCTTCCA	0.378													20	33					0	0	0	0	C	165792844	G	C	165792844	3	2	404	1	0	0	0	0	1	0	0	0	11701	1368	48	4	565	4	PDE10A	6	165792844	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	16397660	165792844	5322223	28	77379											
MUC17	140453	broad.mit.edu	37	chr7	100678325	100678325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaagttaccagcatgCcaacctcaactcctggagaa	12	8	8	13	0	1	2	1	1	0	1	2	3	2	2	4	1	6	3	4	1	5	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr7:100678325C>T	ENST00000306151.4	+	3	3692	c.3628C>T	c.(3628-3630)Cca>Tca	p.P1210S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1210	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P1210S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.512													6	677					0	0	0	0	T	100678325	C	T	100678325	3	4	404	1	0	0	0	0	1	0	0	0	10044	739	26	4	3638	4	MUC17	7	100678325	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08		100678325	58460338	29	77380											
AKR1D1	6718	broad.mit.edu	37	chr7	137773485	137773485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatagcagaaggaaaggtgCggagggaagatatcttctac	15	7	14	5	1	2	3	0	0	2	3	2	6	2	6	0	4	3	1	0	4	6	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr7:137773485C>T	ENST00000242375.3	+	2	274	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	AKR1D1_ENST00000432161.1_Missense_Mutation_p.R78W|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.R78W	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	78					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGGAAAGGTGCGGAGGGAAGA	0.458													6	11					0	0	0	0	T	137773485	C	T	137773485	3	4	404	1	0	0	0	0	1	0	0	0	473	759	27	1	238	1	AKR1D1	7	137773485	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	37095160	137773485	21365178	30	77381											
AKR1D1	6718	broad.mit.edu	37	chr7	137801398	137801398	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaatacccatttcatgAtgaatactgactgcagggag	12	11	9	9	0	1	4	1	4	0	0	2	5	2	5	2	1	3	1	2	1	4	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr7:137801398A>T	ENST00000242375.3	+	9	1013	c.971A>T	c.(970-972)gAt>gTt	p.D324V	AKR1D1_ENST00000432161.1_3'UTR|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.D283V	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	324					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCATTTCATGATGAATACTGA	0.448													30	33					0	0	0	0	T	137801398	A	T	137801398	3	4	404	1	0	0	0	0	1	0	0	0	473	333	12	5	1005	5	AKR1D1	7	137801398	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	27913	137801398	21337265	31	77382											
PREX2	80243	broad.mit.edu	37	chr8	68999986	68999986	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattccagattcagctgaTggacttggcttccagatccg	11	11	9	10	1	1	3	1	1	0	2	4	4	4	4	3	2	1	2	3	2	2	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr8:68999986T>C	ENST00000288368.4	+	19	2332	c.2055T>C	c.(2053-2055)gaT>gaC	p.D685D	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	685	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCAGCTGATGGACTTGGCT	0.438													52	110					0	0	0	0	C	68999986	T	C	68999986	2	2	404	1	0	0	0	0	0	0	0	1	12557	1461	51	5		5	PREX2	8	68999986	Silent	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08		68999986	77364036	32	77383											
CSMD3	114788	broad.mit.edu	37	chr8	113516155	113516155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcagtgggctattactGtctggtccatcatagatata	11	13	8	9	0	3	1	2	0	1	1	4	1	4	1	2	2	1	1	2	2	6	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr8:113516155G>T	ENST00000297405.5	-	30	5191	c.4947C>A	c.(4945-4947)gaC>gaA	p.D1649E	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1649E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1609E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1545E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1649	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCTATTACTGTCTGGTCCAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	37					5.26018e-13	5.93169e-13	1	0	T	113516155	G	T	113516155	3	4	404	1	0	0	0	0	1	0	0	0	3978	1368	48	4	6344	4	CSMD3	8	113516155	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	44516169	113516155	32847867	33	77384											
MFSD3	113655	broad.mit.edu	37	chr8	145734848	145734848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcgtggggctggccaaGgttctgtacgctccgtggct	4	9	16	12	5	1	0	0	0	1	0	2	0	2	0	2	5	1	5	2	5	2	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr8:145734848G>A	ENST00000301327.4	+	1	392	c.132G>A	c.(130-132)aaG>aaA	p.K44K		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	44	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGGCCAAGGTTCTGTACG	0.736													3	4					0	0	0	0	A	145734848	G	A	145734848	2	1	404	1	0	0	0	0	0	0	0	1	9601	991	35	4		4	MFSD3	8	145734848	Silent	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	32218693	145734848	629174	34	77385											
APTX	54840	broad.mit.edu	37	chr9	32973634	32973634	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttactctaccagcctcttgTaccatctcgatcacagctgc	8	12	6	15	1	4	0	1	0	3	0	5	1	4	0	3	0	6	3	3	0	3	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr9:32973634T>A	ENST00000379817.2	-	7	1087	c.891A>T	c.(889-891)gtA>gtT	p.V297V	APTX_ENST00000397172.3_Silent_p.V239V|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000468275.1_Silent_p.V297V|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000379819.1_Silent_p.V311V|APTX_ENST00000463596.1_Silent_p.V297V|APTX_ENST00000379813.3_Silent_p.V297V|APTX_ENST00000476858.1_Silent_p.V257V			Q7Z2E3	APTX_HUMAN	aprataxin	311					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CAGCCTCTTGTACCATCTCGA	0.453								Editing and processing nucleases					31	16					0	0	0	0	A	32973634	T	A	32973634	2	1	404	1	0	0	0	0	0	0	0	1	822	1625	57	5		5	APTX	9	32973634	Silent	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08		32973634	108239797	35	77386											
PAPPA	5069	broad.mit.edu	37	chr9	118974096	118974096	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactggagacctctgcaaTgataccaacccagcccctaa	13	6	8	14	0	1	3	0	1	1	2	1	5	1	3	5	1	4	1	5	1	4	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr9:118974096T>G	ENST00000328252.3	+	4	2172	c.1803T>G	c.(1801-1803)aaT>aaG	p.N601K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	601					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACCTCTGCAATGATACCAACC	0.532													6	341					0	0	0	0	G	118974096	T	G	118974096	3	3	404	1	0	0	0	0	1	0	0	0	11503	1461	51	5	1817	5	PAPPA	9	118974096	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	86000462	118974096	22239335	36	77387											
FRMD4A	55691	broad.mit.edu	37	chr10	13701485	13701485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctggggaagcgcttgTggctgctgcaaagccaagga	8	8	16	9	1	0	0	0	0	0	0	0	2	0	2	1	4	5	5	1	4	3	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:13701485T>C	ENST00000357447.2	-	21	2272	c.1904A>G	c.(1903-1905)cAc>cGc	p.H635R	FRMD4A_ENST00000358621.4_Missense_Mutation_p.H620R|FRMD4A_ENST00000378503.1_Missense_Mutation_p.H635R	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	635	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAAGCGCTTGTGGCTGCTGCA	0.632													17	58					0	0	0	0	C	13701485	T	C	13701485	3	2	404	1	0	0	0	0	1	0	0	0	6099	1696	59	5	1231	5	FRMD4A	10	13701485	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08		13701485	121833262	37	77388											
FAM21C	253725	broad.mit.edu	37	chr10	46250493	46250493	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtccccctcccactggcctCtttgatgatgatgatggtga	6	12	11	12	0	1	5	0	5	1	0	3	5	3	5	4	3	0	0	4	3	0	1	rs28673841		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:46250493C>G	ENST00000336378.4	+	15	1468	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	FAM21C_ENST00000359860.4_Silent_p.L394L|FAM21C_ENST00000537517.1_Silent_p.L426L|FAM21C_ENST00000374362.2_Silent_p.L450L|FAM21C_ENST00000540872.1_Silent_p.L450L	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	450										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCACTGGCCTCTTtgatgatg	0.522													8	25					0	0	0	0	G	46250493	C	G	46250493	2	3	404	1	0	0	0	0	0	0	0	1	5585	900	32	2		2	FAM21C	10	46250493	Silent	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	32549008	46250493	89284254	38	77389			1	116		3	3	64	N	T_G_C	1.208171e-08
FAM21C	253725	broad.mit.edu	37	chr10	46250521	46250521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgatggtgatgatgatGacgactttttctcggcaccc	9	13	11	8	2	1	6	0	6	1	0	2	7	1	6	1	2	0	1	1	2	0	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:46250521G>A	ENST00000336378.4	+	15	1496	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N|FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N|FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	460										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						tgatgatgatgacgaCTTTTT	0.498													3	18					0	0	0	0	A	46250521	G	A	46250521	3	1	404	1	0	0	0	0	1	0	0	0	5585	1290	45	2	1436	2	FAM21C	10	46250521	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	28	46250521	89284226	39	77390			1	116		3	3	64	N	T_G_C	1.208171e-08
FAM21C	253725	broad.mit.edu	37	chr10	46250556	46250556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaccccacagcaaaccttcTaaaacacgtatgtgttcctg	12	9	6	14	1	1	0	0	0	1	0	2	0	2	0	4	0	3	4	4	0	4	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:46250556T>C	ENST00000336378.4	+	15	1531	c.1413T>C	c.(1411-1413)tcT>tcC	p.S471S	FAM21C_ENST00000359860.4_Silent_p.S415S|FAM21C_ENST00000537517.1_Silent_p.S447S|FAM21C_ENST00000374362.2_Silent_p.S471S|FAM21C_ENST00000540872.1_Silent_p.S471S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	471										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCAAACCTTCTAAAACACGTA	0.458													4	4					0	0	0	0	C	46250556	T	C	46250556	2	2	404	1	0	0	0	0	0	0	0	1	5585	1509	53	5		5	FAM21C	10	46250556	Silent	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	35	46250556	89284191	40	77391			1	116		3	3	64	N	T_G_C	1.208171e-08
P4HA1	5033	broad.mit.edu	37	chr10	74813231	74813232	+	Frame_Shift_Del	DEL	AG	AG	-																															tagaaatctcgccttcatccAgttgccttagggcttgttcc																										TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:74813231_74813232delAG	ENST00000412021.2	-	7	913_914	c.580_581delCT	c.(580-582)gfs	p.L194fs	P4HA1_ENST00000440381.1_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000307116.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000373008.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000263556.3_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000394890.2_Frame_Shift_Del_p.L194fs	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	194						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCCTTCATCCAGTTGCCTTAGG	0.446													49	71	---	---	---	---					-	74813232	AG	-	74813231	7	5	404	1	0	1	0	1	0	0	0	0	11427	188	7	0	1138	0	P4HA1	10	74813231	Frame_Shift_Del	DEL	AG	TCGA-F7-A61W-01A-11D-A28R-08	28562675	74813231	60721516	41	77392											
NOC3L	64318	broad.mit.edu	37	chr10	96106181	96106181	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaggggaaataagtcaaaCctttctctgcattcttgata	15	12	7	7	0	3	1	1	1	2	0	4	2	3	2	1	2	2	1	1	2	6	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:96106181C>A	ENST00000371361.3	-	11	1490		c.e11+1		NOC3L_ENST00000371350.1_Splice_Site|NOC3L_ENST00000543788.1_Splice_Site	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)							nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATAAGTCAAACCTTTCTCTGC	0.259													7	21					0.00198382	0.0020416	1	0	A	96106181	C	A	96106181	5	1	404	1	0	0	0	0	0	0	1	0	10584	521	18	4	1056	4	NOC3L	10	96106181	Splice_Site	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	21292950	96106181	39428566	42	77393											
TM9SF3	56889	broad.mit.edu	37	chr10	98307666	98307666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttacctccttgtctagcaTacagacttcctccaaaataa	13	12	4	12	0	1	1	0	0	1	1	4	1	4	1	4	0	3	2	4	0	6	6			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:98307666T>C	ENST00000371142.4	-	8	1256	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	347						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTGTCTAGCATACAGACTTCC	0.353													32	61					0	0	0	0	C	98307666	T	C	98307666	3	2	404	1	0	0	0	0	1	0	0	0	16073	1406	49	5	761	5	TM9SF3	10	98307666	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	2201485	98307666	37227081	43	77394											
ACTR1A	10121	broad.mit.edu	37	chr10	104250323	104250323	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactagtttggaaagcagtaTttggggatctgatcaccagc	11	12	11	7	0	2	1	1	1	1	0	2	3	2	3	1	3	3	3	1	3	4	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:104250323T>C	ENST00000369905.4	-	2	159	c.96A>G	c.(94-96)aaA>aaG	p.K32K	ACTR1A_ENST00000446605.2_Intron|ACTR1A_ENST00000487599.1_Silent_p.K32K|ACTR1A_ENST00000545684.1_5'UTR	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	32					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GAAAGCAGTATTTGGGGATCT	0.458													15	41					0	0	0	0	C	104250323	T	C	104250323	2	2	404	1	0	0	0	0	0	0	0	1	209	1490	52	5		5	ACTR1A	10	104250323	Silent	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	5942657	104250323	31284424	44	77395											
FAM45A	404636	broad.mit.edu	37	chr10	120889085	120889085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccagacctctatgatgtGtttgtgaatctggcagagag	11	11	12	7	0	2	5	0	2	2	3	2	6	2	5	2	1	0	2	2	1	2	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:120889085G>A	ENST00000361432.2	+	7	779	c.753G>A	c.(751-753)gtG>gtA	p.V251V	FAM45A_ENST00000544016.1_Silent_p.V100V|FAM45A_ENST00000535029.1_3'UTR|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	251										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TCTATGATGTGTTTGTGAATC	0.433													13	30					0	0	0	0	A	120889085	G	A	120889085	2	1	404	1	0	0	0	0	0	0	0	1	5611	1364	48	4		4	FAM45A	10	120889085	Silent	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	16638762	120889085	14645662	45	77396											
OR2AG2	338755	broad.mit.edu	37	chr11	6789862	6789862	+	Silent	SNP	G	G	A																															gccagtaggaggtcctcagcGctacccattgtcagtgccag																								rs145583606	by1000genomes	TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr11:6789862G>A	ENST00000338569.2	-	1	424	c.327C>T	c.(325-327)agC>agT	p.S109S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGTCCTCAGCGCTACCCATTG	0.522													18	43					0	0	0	0	A	6789862	G	A	6789862	2	1	404	1	0	0	0	0	0	0	0	1	11056	1078	38	1		1	OR2AG2	11	6789862	Silent	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08		6789862	128216654	46	77397	1031	2									
OR2AG2	338755	broad.mit.edu	37	chr11	6789864	6789864	+	Missense_Mutation	SNP	T	T	C																															cagtaggaggtcctcagcgcTacccattgtcagtgccagga																										TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr11:6789864T>C	ENST00000338569.2	-	1	422	c.325A>G	c.(325-327)Agc>Ggc	p.S109G		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCTCAGCGCTACCCATTGTC	0.522													21	45					0	0	0	0	C	6789864	T	C	6789864	3	2	404	1	0	0	0	0	1	0	0	0	11056	1522	53	5	629	5	OR2AG2	11	6789864	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	2	6789864	128216652	47	77398	1031	2									
SLC5A12	159963	broad.mit.edu	37	chr11	26714150	26714150	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgctggaagccacggtgcTataaggaaagaaaagtgaga	16	6	14	5	1	0	2	0	1	0	2	0	6	0	4	1	3	3	2	1	3	6	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr11:26714150T>C	ENST00000396005.3	-	9	1350		c.e9-2		SLC5A12_ENST00000280467.6_Splice_Site	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12						sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCACGGTGCTATAAGGAAAG	0.488													4	56					0	0	0	0	C	26714150	T	C	26714150	5	2	404	1	0	0	0	0	0	0	1	0	14752	1536	53	5	845	5	SLC5A12	11	26714150	Splice_Site	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	19924286	26714150	108292366	48	77399											
OR5AS1	219447	broad.mit.edu	37	chr11	55798145	55798145	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcctaaaatgctggcaaActtcttggcatccaggaaaa	14	9	7	11	0	1	0	0	0	1	0	3	1	3	1	2	3	2	3	2	3	5	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr11:55798145A>T	ENST00000313555.1	+	1	251	c.251A>T	c.(250-252)aAc>aTc	p.N84I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATGCTGGCAAACTTCTTGGCA	0.398													15	18					0	0	0	0	T	55798145	A	T	55798145	3	4	404	1	0	0	0	0	1	0	0	0	11217	43	2	5	253	5	OR5AS1	11	55798145	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	29083995	55798145	79208371	49	77400											
GDF3	9573	broad.mit.edu	37	chr12	7842783	7842783	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggtgacggtggcagagGttcttacaagaaagcttggg	10	9	16	6	1	1	3	0	1	1	2	1	3	1	3	0	5	3	4	0	5	3	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:7842783G>A	ENST00000329913.3	-	2	833	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	262					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTGGCAGAGGTTCTTACAAG	0.537													42	58					0	0	0	0	A	7842783	G	A	7842783	2	1	404	1	0	0	0	0	0	0	0	1	6366	1252	44	4		4	GDF3	12	7842783	Silent	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08		7842783	126009112	50	77401											
PLEKHG7	440107	broad.mit.edu	37	chr12	93150134	93150134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtcaccaaccagcagaCaccttctctatgaaggaaaa	14	9	6	12	0	3	2	1	1	2	1	4	3	3	3	3	1	2	1	3	1	5	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:93150134C>G	ENST00000344636.3	+	8	851	c.667C>G	c.(667-669)Cac>Gac	p.H223D		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	223	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AACCAGCAGACACCTTCTCTA	0.368													13	47					0	0	0	0	G	93150134	C	G	93150134	3	3	404	1	0	0	0	0	1	0	0	0	12147	478	17	4	693	4	PLEKHG7	12	93150134	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	85307351	93150134	40701761	51	77402											
NAA25	80018	broad.mit.edu	37	chr12	112481439	112481439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatggtacctgaatatccTtctcaataaatcgctttcct	10	16	5	10	1	1	2	1	2	1	0	5	2	3	2	3	1	1	2	3	1	6	6			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:112481439T>C	ENST00000261745.4	-	18	2488	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	747						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTGAATATCCTTCTCAATAAA	0.408													28	46					0	0	0	0	C	112481439	T	C	112481439	3	2	404	1	0	0	0	0	1	0	0	0	10191	1609	56	5	706	5	NAA25	12	112481439	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	19331305	112481439	21370456	52	77403											
NCOR2	9612	broad.mit.edu	37	chr12	124859003	124859003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcattcccagaggcaTgtaaggctggaaggaagtca	12	7	12	10	0	2	1	2	0	0	1	3	3	3	3	2	4	0	4	2	4	3	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:124859003T>C	ENST00000356219.3	-	20	2329	c.2174A>G	c.(2173-2175)cAt>cGt	p.H725R	NCOR2_ENST00000405201.1_Missense_Mutation_p.H725R|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404121.2_Intron|NCOR2_ENST00000429285.2_Intron|NCOR2_ENST00000404621.1_Intron	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	725					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccagaggcatgtaaggctgg	0.647													18	11					0	0	0	0	C	124859003	T	C	124859003	3	2	404	1	0	0	0	0	1	0	0	0	10306	1464	51	5	5510	5	NCOR2	12	124859003	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	12377564	124859003	8992892	53	77404											
TMEM132D	121256	broad.mit.edu	37	chr12	130185052	130185052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagctggcattgaggacagGcagcctcctggatttgtaaa	10	10	13	8	0	0	1	0	1	0	0	1	3	1	3	2	4	2	5	2	4	3	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:130185052G>A	ENST00000422113.2	-	2	597	c.271C>T	c.(271-273)Cct>Tct	p.P91S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	91						integral to membrane		p.P91S(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGAGGACAGGCAGCCTCCTG	0.512													17	37					0	0	0	0	A	130185052	G	A	130185052	3	1	404	1	0	0	0	0	1	0	0	0	16141	1203	42	4	3060	4	TMEM132D	12	130185052	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	5326049	130185052	3666843	54	77405											
ULK1	8408	broad.mit.edu	37	chr12	132393211	132393211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgcacgctgagcgaggaCaccatcaggctcttcctgca	9	7	11	14	3	2	1	1	1	1	0	3	3	3	2	2	2	3	4	2	2	0	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:132393211C>A	ENST00000321867.4	+	6	690	c.339C>A	c.(337-339)gaC>gaA	p.D113E		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	113	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGAGCGAGGACACCATCAGGC	0.677													6	13					0.00116845	0.00121427	1	0	A	132393211	C	A	132393211	3	1	404	1	0	0	0	0	1	0	0	0	17071	477	17	4	361	4	ULK1	12	132393211	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	2208159	132393211	1458684	55	77406											
ZNF10	7556	broad.mit.edu	37	chr12	133727720	133727720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtgatgctggagaactAtaagaacctggtttccttgg	12	12	11	6	0	0	3	0	1	0	2	1	4	1	3	2	3	3	2	2	3	5	4			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:133727720A>G	ENST00000248211.6	+	3	362	c.140A>G	c.(139-141)tAt>tGt	p.Y47C	ZNF10_ENST00000540927.1_3'UTR|ZNF268_ENST00000416488.1_Missense_Mutation_p.Y47C|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.Y47C|ZNF10_ENST00000402932.2_Missense_Mutation_p.Y47C|ZNF10_ENST00000426665.2_Missense_Mutation_p.Y47C	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTGGAGAACTATAAGAACCTG	0.453													33	43					0	0	0	0	G	133727720	A	G	133727720	3	3	404	1	0	0	0	0	1	0	0	0	17807	449	16	5	146	5	ZNF10	12	133727720	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	1334509	133727720	124175	56	77407											
DCLK1	9201	broad.mit.edu	37	chr13	36700177	36700177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgggcgctgtgcgtcGggctcggcaggccgttcacc	3	8	17	13	5	1	0	1	0	0	0	3	0	1	0	2	4	2	5	2	4	0	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr13:36700177G>A	ENST00000255448.4	-	2	309	c.98C>T	c.(97-99)cCg>cTg	p.P33L	DCLK1_ENST00000379892.4_Missense_Mutation_p.P33L|DCLK1_ENST00000360631.3_Missense_Mutation_p.P33L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	33					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCTGTGCGTCGGGCTCGGCAG	0.607													60	30					0	0	0	0	A	36700177	G	A	36700177	3	1	404	1	0	0	0	0	1	0	0	0	4323	1116	39	1	2159	1	DCLK1	13	36700177	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08		36700177	78469701	57	77408											
KIF26A	26153	broad.mit.edu	37	chr14	104641958	104641958	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcagtgagtggaggcAggaggccactgcccagcccg	8	4	17	12	1	0	1	0	1	0	0	0	3	0	3	3	5	3	3	3	5	0	0			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr14:104641958A>T	ENST00000315264.7	+	11	2794	c.2416A>T	c.(2416-2418)Agg>Tgg	p.R806W	KIF26A_ENST00000423312.2_Missense_Mutation_p.R945W			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	945					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GAGTGGAGGCAGGAGGCCACT	0.667													10	14					0	0	0	0	T	104641958	A	T	104641958	3	4	404	1	0	0	0	0	1	0	0	0	8345	179	7	5	2879	5	KIF26A	14	104641958	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08		104641958	2707582	58	77409											
USP3	9960	broad.mit.edu	37	chr15	63866570	63866570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagtaagcgctctaagaAtcaagaaaatggaccagttt	17	8	9	7	1	2	3	1	0	1	3	2	4	2	4	1	1	1	3	1	1	7	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr15:63866570A>T	ENST00000268049.7	+	12	1322	c.998A>T	c.(997-999)aAt>aTt	p.N333I	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.N355I|USP3_ENST00000558285.1_Missense_Mutation_p.N338I|USP3_ENST00000540797.1_Missense_Mutation_p.N311I|USP3_ENST00000539772.1_Missense_Mutation_p.N106I|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.N266I			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	355					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CGCTCTAAGAATCAAGAAAAT	0.323													15	29					0	0	0	0	T	63866570	A	T	63866570	3	4	404	1	0	0	0	0	1	0	0	0	17156	101	4	5	1106	5	USP3	15	63866570	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08		63866570	38664822	59	77410											
TSPAN3	10099	broad.mit.edu	37	chr15	77346572	77346572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcatcagggttggttccaTtgtaggtcttatacactttc	8	15	9	9	0	2	0	1	0	1	0	4	0	3	0	1	3	2	4	1	3	3	7			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr15:77346572T>C	ENST00000267970.4	-	4	653	c.380A>G	c.(379-381)aAt>aGt	p.N127S	TSPAN3_ENST00000559494.1_Missense_Mutation_p.N38S|TSPAN3_ENST00000424443.3_Missense_Mutation_p.N63S|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000346495.2_Missense_Mutation_p.N102S	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	127						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GTTGGTTCCATTGTAGGTCTT	0.413													24	32					0	0	0	0	C	77346572	T	C	77346572	3	2	404	1	0	0	0	0	1	0	0	0	16740	1493	52	5	397	5	TSPAN3	15	77346572	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	13480002	77346572	25184820	60	77411											
STARD5	80765	broad.mit.edu	37	chr15	81614837	81614837	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggcttcacacagtccCacacctcctctagtgtccca	8	9	6	18	0	2	0	1	0	1	0	5	0	5	0	4	1	1	2	4	1	1	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr15:81614837C>T	ENST00000302824.6	-	3	219	c.194G>A	c.(193-195)tGg>tAg	p.W65*	STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	65	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CACACAGTCCCACACCTCCTC	0.473													7	78					0	0	0	0	T	81614837	C	T	81614837	4	4	404	1	0	0	0	0	0	1	0	0	15350	595	21	4	463	4	STARD5	15	81614837	Nonsense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	4268265	81614837	20916555	61	77412											
SCNN1G	6340	broad.mit.edu	37	chr16	23226426	23226426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagattgagatgcttctgtCcaacttcggtggccagctgg	7	11	13	10	1	1	2	0	1	1	2	3	3	2	2	2	3	3	3	2	3	1	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr16:23226426C>A	ENST00000300061.2	+	13	1729	c.1586C>A	c.(1585-1587)tCc>tAc	p.S529Y		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	529					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCTTCTGTCCAACTTCGGT	0.542													20	28					2.4624e-09	2.74752e-09	1	0	A	23226426	C	A	23226426	3	1	404	1	0	0	0	0	1	0	0	0	14017	855	30	2	1632	2	SCNN1G	16	23226426	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08		23226426	67128327	62	77413											
TP53	7157	broad.mit.edu	37	chr17	7576862	7576863	+	Frame_Shift_Ins	INS	-	-	A																															gacttagtacctgaagggtgINSaaatattctccatccagtgg																										TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr17:7576862_7576863insA	ENST00000420246.2	-	9	1115_1116	c.983_984insT	c.(982-984)tacfs	p.Y328fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y328fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	328	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T329fs*8(3)|p.F328F(1)|p.T329fs*21(1)|p.F328S(1)|p.?(1)|p.F328fs*9(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)		CCTGAAGGGTGAAATATTCTCC	0.441		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)			90	22	---	---	---	---					A	7576863	-	A	7576862	7	5	404	1	0	1	1	0	0	0	0	0	16476	1281	45	0	298	0	TP53	17	7576862	Frame_Shift_Ins	INS	-	TCGA-F7-A61W-01A-11D-A28R-08		7576862	73618348	63	77414											
SMCHD1	23347	broad.mit.edu	37	chr18	2732289	2732289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgtggcacctgtggaGaagactattaagttgcttcc	12	11	11	7	0	0	3	0	0	0	3	1	4	1	3	2	2	1	3	2	2	4	4	rs150408627	by1000genomes	TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr18:2732289G>T	ENST00000320876.6	+	25	3413	c.3075G>T	c.(3073-3075)gaG>gaT	p.E1025D	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1025D|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1025					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CACCTGTGGAGAAGACTATTA	0.373													28	49					1.32003e-05	1.42779e-05	1	0	T	2732289	G	T	2732289	3	4	404	1	0	0	0	0	1	0	0	0	14876	933	33	2	3173	2	SMCHD1	18	2732289	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08		2732289	75344959	64	77415											
DUS3L	56931	broad.mit.edu	37	chr19	5786534	5786534	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggttggcatcctcaaaTgacaagatgtccccatttcc	9	10	9	13	2	1	2	1	1	0	1	4	2	4	2	4	2	0	2	4	2	2	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:5786534T>G	ENST00000309061.7	-	10	1602	c.1506A>C	c.(1504-1506)tcA>tcC	p.S502S	DUS3L_ENST00000320699.8_Silent_p.S260S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	502					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CATCCTCAAATGACAAGATGT	0.572													11	4					0	0	0	0	G	5786534	T	G	5786534	2	3	404	1	0	0	0	0	0	0	0	1	4843	1451	51	5		5	DUS3L	19	5786534	Silent	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08		5786534	53342449	65	77416											
ACTN4	81	broad.mit.edu	37	chr19	39214357	39214357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatagtcgcagggaagccCtggaggtgaggagggggtga	10	5	19	7	1	0	2	0	2	0	0	1	5	0	5	1	6	1	1	1	6	2	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:39214357C>A	ENST00000252699.2	+	13	1622	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	ACTN4_ENST00000390009.3_Missense_Mutation_p.L297M|ACTN4_ENST00000424234.2_Missense_Mutation_p.L126M	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	516					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGAAGCCCTGGAGGTGAG	0.627													6	8					0.00116845	0.00121427	1	0	A	39214357	C	A	39214357	3	1	404	1	0	0	0	0	1	0	0	0	207	680	24	4	1596	4	ACTN4	19	39214357	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	33427823	39214357	19914626	66	77417											
ZNF546	339327	broad.mit.edu	37	chr19	40504315	40504315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgcactcactttctataAtggtagagaaatgcatatcc	12	13	6	10	0	3	1	1	0	2	1	4	2	4	1	1	1	2	3	1	1	5	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:40504315A>G	ENST00000347077.4	+	3	298	c.82A>G	c.(82-84)Atg>Gtg	p.M28V	ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTTTCTATAATGGTAGAGAA	0.388													5	28					0	0	0	0	G	40504315	A	G	40504315	3	3	404	1	0	0	0	0	1	0	0	0	18073	101	4	5	84	5	ZNF546	19	40504315	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	1289958	40504315	18624668	67	77418											
ZNF180	7733	broad.mit.edu	37	chr19	44981361	44981361	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtttatagctctgcctgAatgactttccacattgattg	10	16	7	8	0	1	3	0	3	1	0	2	3	2	3	2	0	2	2	2	0	4	7			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:44981361A>T	ENST00000221327.4	-	5	1618	c.1337T>A	c.(1336-1338)tTc>tAc	p.F446Y	ZNF180_ENST00000391956.4_Missense_Mutation_p.F421Y|ZNF180_ENST00000592529.1_Missense_Mutation_p.F419Y	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTCTGCCTGAATGACTTTCC	0.393													24	30					0	0	0	0	T	44981361	A	T	44981361	3	4	404	1	0	0	0	0	1	0	0	0	17843	246	9	5	745	5	ZNF180	19	44981361	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	4477046	44981361	14147622	68	77419											
ZNF814	730051	broad.mit.edu	37	chr19	58385140	58385140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtccccagtgtgaatttGctgatggttcctaagatgtc	7	15	10	9	0	1	3	0	2	1	1	4	3	3	3	3	1	1	2	3	1	2	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:58385140G>T	ENST00000435989.2	-	3	1852	c.1618C>A	c.(1618-1620)Caa>Aaa	p.Q540K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	540					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GTGTGAATTTGCTGATGGTTC	0.448													3	40					0.115264	0.115264	1	0	T	58385140	G	T	58385140	3	4	404	1	0	0	0	0	1	0	0	0	18269	1328	46	4	953	4	ZNF814	19	58385140	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	13403779	58385140	743843	69	77420											
ZNF343	79175	broad.mit.edu	37	chr20	2463924	2463924	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggacaaggaggagtgaTttccggctaaagcctcggcc	9	8	15	9	2	0	1	0	1	0	0	2	4	1	4	3	6	1	1	3	6	3	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr20:2463924T>C	ENST00000278772.4	-	6	2170	c.1683A>G	c.(1681-1683)aaA>aaG	p.K561K	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GGAGGAGTGATTTCCGGCTAA	0.502													29	47					0	0	0	0	C	2463924	T	C	2463924	2	2	404	1	0	0	0	0	0	0	0	1	17953	1490	52	5		5	ZNF343	20	2463924	Silent	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08		2463924	60561596	70	77421											
BMP2	650	broad.mit.edu	37	chr20	6751021	6751021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccctacatgctagacctgtAtcgcaggcactcaggtcagc	9	8	9	15	1	2	1	2	0	0	1	3	1	2	1	3	2	3	4	3	2	3	3	rs79417223		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr20:6751021A>G	ENST00000378827.4	+	2	1467	c.248A>G	c.(247-249)tAt>tGt	p.Y83C		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	83					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CTAGACCTGTATCGCAGGCAC	0.647													13	33					0	0	0	0	G	6751021	A	G	6751021	3	3	404	1	0	0	0	0	1	0	0	0	1464	449	16	5	250	5	BMP2	20	6751021	Missense_Mutation	SNP	A	TCGA-F7-A61W-01A-11D-A28R-08	4287097	6751021	56274499	71	77422											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812774	31812774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaatacctgccaactGggctcctctctctacaatgg	9	11	6	15	0	3	0	0	0	3	0	6	0	4	0	4	2	4	1	4	2	5	2			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr21:31812774G>T	ENST00000334067.3	+	1	178	c.129G>T	c.(127-129)ctG>ctT	p.L43L		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	43			L -> M (in dbSNP:rs2832873).			intermediate filament		p.L43L(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CCTGCCAACTGGGCTCCTCTC	0.488													38	34					1.57351e-24	1.79347e-24	1	0	T	31812774	G	T	31812774	2	4	404	1	0	0	0	0	0	0	0	1	8578	1335	47	4		4	KRTAP15-1	21	31812774	Silent	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08		31812774	16317121	72	77423											
TTC3	7267	broad.mit.edu	37	chr21	38560808	38560808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggcaggtatccgtacttGaaaactggaaggagagtgaa	14	8	13	6	1	0	3	0	2	0	1	1	5	1	4	1	4	2	3	1	4	6	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr21:38560808G>C	ENST00000399017.2	+	39	7683	c.4936G>C	c.(4936-4938)Gaa>Caa	p.E1646Q	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.E1646Q|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Missense_Mutation_p.E1646Q	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1646					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATCCGTACTTGAAAACTGGAA	0.393													15	30					0	0	0	0	C	38560808	G	C	38560808	3	2	404	1	0	0	0	0	1	0	0	0	16793	1291	45	2	5086	2	TTC3	21	38560808	Missense_Mutation	SNP	G	TCGA-F7-A61W-01A-11D-A28R-08	6748034	38560808	9569087	73	77424											
COL18A1	80781	broad.mit.edu	37	chr21	46888461	46888461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaggacatctccctgCtctacacagaaccaggtgca	11	6	9	15	0	2	1	0	0	2	1	3	2	2	2	3	3	4	3	3	3	2	1			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr21:46888461C>T	ENST00000359759.4	+	2	1678	c.1657C>T	c.(1657-1659)Ctc>Ttc	p.L553F	COL18A1_ENST00000355480.5_Missense_Mutation_p.L318F|COL18A1_ENST00000400337.2_Missense_Mutation_p.L138F			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	553	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CATCTCCCTGCTCTACACAGA	0.662													49	82					0	0	0	0	T	46888461	C	T	46888461	3	4	404	1	0	0	0	0	1	0	0	0	3705	797	28	4	1777	4	COL18A1	21	46888461	Missense_Mutation	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08	8327653	46888461	1241434	74	77425											
DGCR14	8220	broad.mit.edu	37	chr22	19127410	19127410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagagccaagcgtggcgTgcccggcttctctccttggc	4	10	14	13	3	1	1	0	0	1	1	3	1	2	1	3	4	3	2	3	4	2	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr22:19127410T>C	ENST00000252137.6	-	4	571	c.528A>G	c.(526-528)gcA>gcG	p.A176A		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	176					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AAGCGTGGCGTGCCCGGCTTC	0.602													83	123					0	0	0	0	C	19127410	T	C	19127410	2	2	404	1	0	0	0	0	0	0	0	1	4497	1683	59	5		5	DGCR14	22	19127410	Silent	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08		19127410	32177156	75	77426											
TCF20	6942	broad.mit.edu	37	chr22	42605671	42605671	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcaccatctctctggctaTttccagcgcttcctgcaggc	6	12	7	16	1	3	0	1	0	2	0	6	0	5	0	3	2	2	3	3	2	1	3			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr22:42605671T>C	ENST00000359486.3	-	1	5777	c.5641A>G	c.(5641-5643)Ata>Gta	p.I1881V	TCF20_ENST00000335626.4_Missense_Mutation_p.I1881V|TCF20_ENST00000404876.1_Missense_Mutation_p.I182V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTCTGGCTATTTCCAGCGCT	0.433													72	99					0	0	0	0	C	42605671	T	C	42605671	3	2	404	1	0	0	0	0	1	0	0	0	15784	1493	52	5	279	5	TCF20	22	42605671	Missense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	23478261	42605671	8698895	76	77427											
ZBED1	9189	broad.mit.edu	37	chrX	2408368	2408368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcgcagatgaggccCagcacggcggccgtcagctc	7	4	13	17	4	1	2	1	1	0	1	3	2	1	2	4	3	3	3	4	3	0	0			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chrX:2408368C>T	ENST00000381223.4	-	2	596	c.393G>A	c.(391-393)ctG>ctA	p.L131L	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.L131L|ZBED1_ENST00000381218.3_Silent_p.L131L	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	131						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGATGAGGCCCAGCACGGCGG	0.697													39	19					0	0	0	0	T	2408368	C	T	2408368	2	4	404	1	0	0	0	0	0	0	0	1	17613	581	21	4		4	ZBED1	23	2408368	Silent	SNP	C	TCGA-F7-A61W-01A-11D-A28R-08		2408368	152862192	77	77428											
HUWE1	10075	broad.mit.edu	37	chrX	53600715	53600715	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggaaatattacctcttTgatcagttcagactggccca	11	13	8	9	0	3	2	2	1	1	1	3	3	3	3	2	2	1	2	2	2	3	5			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chrX:53600715T>A	ENST00000342160.3	-	46	6764	c.6307A>T	c.(6307-6309)Aaa>Taa	p.K2103*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.K2103*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2103					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTACCTCTTTGATCAGTTCA	0.458													16	29					0	0	0	0	A	53600715	T	A	53600715	4	1	404	1	0	0	0	0	0	1	0	0	7514	1821	63	5	6969	5	HUWE1	23	53600715	Nonsense_Mutation	SNP	T	TCGA-F7-A61W-01A-11D-A28R-08	51192347	53600715	101669845	78	77429											
CAMTA1	23261	broad.mit.edu	37	chr1	7724554	7724554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgcccacggtgaaaacGgaggcctcgtcccaaaccag	11	5	12	13	3	0	2	0	2	0	0	2	3	1	3	4	3	3	0	4	3	3	0			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:7724554G>A	ENST00000303635.7	+	9	2154	c.1947G>A	c.(1945-1947)acG>acA	p.T649T	CAMTA1_ENST00000439411.2_Silent_p.T649T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGTGAAAACGGAGGCCTCGT	0.627			T	WWTR1	epitheliod hemangioendothelioma								56	304					0	0	0	0	A	7724554	G	A	7724554	2	1	405	1	0	0	0	0	0	0	0	1	2638	1103	39	1		1	CAMTA1	1	7724554	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		7724554	241526067	1	77430											
SLC45A1	50651	broad.mit.edu	37	chr1	8399557	8399557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctctgtggcccgcagctatCctggagaagctggaggagtt	7	10	14	10	1	1	1	0	0	1	1	3	4	2	3	2	4	2	4	2	4	2	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:8399557C>T	ENST00000471889.1	+	8	2164	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	SLC45A1_ENST00000377479.2_Silent_p.I627I|SLC45A1_ENST00000289877.8_Silent_p.I593I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	593					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCAGCTATCCTGGAGAAGC	0.652													11	87					0	0	0	0	T	8399557	C	T	8399557	2	4	405	1	0	0	0	0	0	0	0	1	14728	845	30	2		2	SLC45A1	1	8399557	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	675003	8399557	240851064	2	77431											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809727	18809727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgcccaaggagctgcGgagtttcccggccccgcagg	5	8	15	13	3	0	0	0	0	0	0	1	2	1	2	4	4	3	4	4	4	1	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:18809727G>A	ENST00000400664.1	+	1	2304	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	751						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGAGCTGCGGAGTTTCCCG	0.642													25	122					0	0	0	0	A	18809727	G	A	18809727	3	1	405	1	0	0	0	0	1	0	0	0	8412	1116	39	1	2254	1	KLHDC7A	1	18809727	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	10410170	18809727	230440894	3	77432											
CHIA	27159	broad.mit.edu	37	chr1	111862863	111862863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagctcagcccattgaGccaataactgctgctcccag	9	8	8	16	0	1	1	1	1	0	0	3	1	3	1	4	0	6	4	4	0	2	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:111862863G>A	ENST00000369740.1	+	12	1309	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	CHIA_ENST00000343320.6_Silent_p.E402E|CHIA_ENST00000353665.6_Silent_p.E241E|CHIA_ENST00000483391.1_Silent_p.E241E|CHIA_ENST00000451398.2_Silent_p.E241E|CHIA_ENST00000430615.1_Silent_p.E294E|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	402					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AGCCCATTGAGCCAATAACTG	0.582													19	72					0	0	0	0	A	111862863	G	A	111862863	2	1	405	1	0	0	0	0	0	0	0	1	3371	962	34	4		4	CHIA	1	111862863	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	93053136	111862863	137387758	4	77433											
YY1AP1	55249	broad.mit.edu	37	chr1	155630074	155630074	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggataacaggggcaggttTgatacagcgaaaggccctgg	11	7	16	7	1	0	1	0	1	0	0	0	3	0	2	1	6	3	2	1	6	3	3			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:155630074T>A	ENST00000368340.5	-	10	2089	c.1981A>T	c.(1981-1983)Aaa>Taa	p.K661*	MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.K589*|YY1AP1_ENST00000535662.1_Nonsense_Mutation_p.K389*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.K532*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.K681*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.K512*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.K532*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.K512*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.K523*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.K543*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.K543*	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGGGCAGGTTTGATACAGCGA	0.522													11	171					0	0	0	0	A	155630074	T	A	155630074	4	1	405	1	0	0	0	0	0	1	0	0	17604	1821	63	5	629	5	YY1AP1	1	155630074	Nonsense_Mutation	SNP	T	TCGA-F7-A620-01A-11D-A28R-08	43767211	155630074	93620547	5	77434											
FMN2	56776	broad.mit.edu	37	chr1	240497499	240497499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaagattttcaaaaaGatctcagaaaactgaagaaa	20	10	7	4	0	2	6	2	2	1	4	3	6	2	6	0	0	1	1	0	0	7	3			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:240497499G>T	ENST00000319653.9	+	13	4965	c.4735G>T	c.(4735-4737)Gat>Tat	p.D1579Y	FMN2_ENST00000545751.1_Missense_Mutation_p.D175Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1579	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTCAAAAAGATCTCAGAAA	0.378													30	148					8.16721e-17	9.70456e-17	1	0	T	240497499	G	T	240497499	3	4	405	1	0	0	0	0	1	0	0	0	5995	942	33	2	4785	2	FMN2	1	240497499	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	84867425	240497499	8753122	6	77435											
TPO	7173	broad.mit.edu	37	chr2	1491667	1491667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggatcagctgatgaacGaggagctgacggaaaggctc	12	6	15	8	2	1	3	1	3	0	0	2	7	1	6	0	4	4	4	0	4	2	0			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:1491667G>A	ENST00000345913.4	+	10	1763	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.E558K|TPO_ENST00000346956.3_Missense_Mutation_p.E558K|TPO_ENST00000349624.3_Missense_Mutation_p.E385K|TPO_ENST00000329066.4_Missense_Mutation_p.E558K|TPO_ENST00000382198.1_Missense_Mutation_p.E385K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	558					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E558K(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTGATGAACGAGGAGCTGAC	0.562													16	72					0	0	0	0	A	1491667	G	A	1491667	3	1	405	1	0	0	0	0	1	0	0	0	16505	1059	37	1	1706	1	TPO	2	1491667	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		1491667	241707706	7	77436											
NEB	4703	broad.mit.edu	37	chr2	152420376	152420376	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcttggctccaacaatGggaatgtagcgctcatccag	10	9	11	11	1	1	0	1	0	0	0	3	1	3	1	2	2	3	5	2	2	4	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:152420376G>T	ENST00000397345.3	-	118	18742	c.18540C>A	c.(18538-18540)ccC>ccA	p.P6180P	NEB_ENST00000604864.1_Silent_p.P6180P|NEB_ENST00000409198.1_Silent_p.P4479P|NEB_ENST00000172853.10_Silent_p.P4479P|NEB_ENST00000427231.2_Silent_p.P6180P|NEB_ENST00000603639.1_Silent_p.P6180P	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6169					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCAACAATGGGAATGTAGC	0.483													3	37					0.115264	0.116417	1	0	T	152420376	G	T	152420376	2	4	405	1	0	0	0	0	0	0	0	1	10372	1335	47	4		4	NEB	2	152420376	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	150928709	152420376	90778997	8	77437											
SCN1A	6323	broad.mit.edu	37	chr2	166848095	166848095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataggagaccttggaaggaTtggaagccatgaatcgctct	12	9	13	7	1	1	2	0	1	1	1	2	7	1	5	2	4	1	1	2	4	4	3			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:166848095T>C	ENST00000423058.2	-	26	5707	c.5690A>G	c.(5689-5691)aAt>aGt	p.N1897S	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1869S|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1886S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1897S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1897						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTGGAAGGATTGGAAGCCAT	0.428													16	85					0	0	0	0	C	166848095	T	C	166848095	3	2	405	1	0	0	0	0	1	0	0	0	14001	1493	52	5	343	5	SCN1A	2	166848095	Missense_Mutation	SNP	T	TCGA-F7-A620-01A-11D-A28R-08	14427719	166848095	76351278	9	77438											
INO80D	54891	broad.mit.edu	37	chr2	206882489	206882489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgctgtccatctgcaaacTtggctgtgcaacttgagaag	10	11	10	10	0	1	1	0	1	1	1	2	2	2	1	1	1	5	4	1	1	3	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:206882489T>C	ENST00000403263.1	-	8	1861	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	486					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ATCTGCAAACTTGGCTGTGCA	0.398													8	27					0	0	0	0	C	206882489	T	C	206882489	3	2	405	1	0	0	0	0	1	0	0	0	7802	1609	56	5	1642	5	INO80D	2	206882489	Missense_Mutation	SNP	T	TCGA-F7-A620-01A-11D-A28R-08	40034394	206882489	36316884	10	77439											
TRIP12	9320	broad.mit.edu	37	chr2	230632383	230632383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagttcacacaagtcattaCagagggcaagaagtcatctg	15	9	9	8	0	4	2	3	0	1	2	4	2	4	2	0	1	1	2	0	1	5	3			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:230632383C>G	ENST00000283943.5	-	41	6044	c.5866G>C	c.(5866-5868)Gta>Cta	p.V1956L	TRIP12_ENST00000389044.4_Missense_Mutation_p.V2004L|TRIP12_ENST00000389045.3_Missense_Mutation_p.V1686L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1956	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		CAAGTCATTACAGAGGGCAAG	0.413													26	76					0	0	0	0	G	230632383	C	G	230632383	3	3	405	1	0	0	0	0	1	0	0	0	16651	478	17	4	116	4	TRIP12	2	230632383	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	23749894	230632383	12566990	11	77440											
SRGAP3	9901	broad.mit.edu	37	chr3	9027468	9027468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatgacgatggtgtgaaggGgactggcgggctccgagctg	7	7	20	7	3	0	2	0	2	0	0	1	6	1	4	1	6	1	2	1	6	1	0			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:9027468G>T	ENST00000383836.3	-	22	3462	c.3035C>A	c.(3034-3036)cCc>cAc	p.P1012H	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P988H	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1012					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGTGTGAAGGGGACTGGCGGG	0.672			T	RAF1	pilocytic astrocytoma								14	67					7.81268e-19	9.39382e-19	1	0	T	9027468	G	T	9027468	3	4	405	1	0	0	0	0	1	0	0	0	15237	1232	43	4	268	4	SRGAP3	3	9027468	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		9027468	188994962	12	77441											
MON1A	84315	broad.mit.edu	37	chr3	49948253	49948253	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagctcttgtgccgactgCcgcgtacgagccaccgccac	6	6	11	18	5	1	0	0	0	1	0	1	2	1	0	6	0	5	2	6	0	1	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:49948253C>T	ENST00000417270.1	-	5	1395	c.702G>A	c.(700-702)cgG>cgA	p.R234R	MON1A_ENST00000455683.2_Silent_p.R161R|MON1A_ENST00000296473.3_Silent_p.R323R|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	226							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTGCCGACTGCCGCGTACGAG	0.592													3	36					0	0	0	0	T	49948253	C	T	49948253	2	4	405	1	0	0	0	0	0	0	0	1	9768	726	26	4		4	MON1A	3	49948253	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	40920785	49948253	148074177	13	77442											
IL17RD	54756	broad.mit.edu	37	chr3	57131801	57131801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgtgtgcagcaggggttGcagggcggcgctaccgtcaa	7	6	16	12	4	1	0	1	0	0	0	1	0	1	0	2	4	4	5	2	4	2	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:57131801G>T	ENST00000296318.7	-	12	2018	c.1930C>A	c.(1930-1932)Caa>Aaa	p.Q644K	IL17RD_ENST00000320057.5_Missense_Mutation_p.Q500K|IL17RD_ENST00000427856.2_Missense_Mutation_p.Q620K|IL17RD_ENST00000463523.1_Missense_Mutation_p.Q500K	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	644						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AGCAGGGGTTGCAGGGCGGCG	0.682													3	29					0.004672	0.00486466	1	0	T	57131801	G	T	57131801	3	4	405	1	0	0	0	0	1	0	0	0	7695	1328	46	4	297	4	IL17RD	3	57131801	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	7183548	57131801	140890629	14	77443											
MAGI1	9223	broad.mit.edu	37	chr3	65365202	65365202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgatgagaggaggctggcGagggcacctcgttctcggtt	6	10	17	8	3	1	2	0	2	1	1	3	5	1	3	1	5	0	4	1	5	0	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:65365202G>A	ENST00000330909.8	-	18	2812	c.2813C>T	c.(2812-2814)tCg>tTg	p.S938L	MAGI1_ENST00000497477.2_Missense_Mutation_p.S910L|MAGI1_ENST00000483466.1_Missense_Mutation_p.S938L|MAGI1_ENST00000402939.2_Missense_Mutation_p.S910L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	938					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAGGCTGGCGAGGGCACCTC	0.627													38	153					0	0	0	0	A	65365202	G	A	65365202	3	1	405	1	0	0	0	0	1	0	0	0	9259	1059	37	1	1833	1	MAGI1	3	65365202	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	8233401	65365202	132657228	15	77444											
GRAMD1C	54762	broad.mit.edu	37	chr3	113655241	113655241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttcctaaactttcctctCagcattcctctggagatgtg	8	14	7	12	0	2	1	1	0	2	1	6	2	5	1	3	1	2	2	3	1	2	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:113655241C>G	ENST00000358160.4	+	14	2077	c.1585C>G	c.(1585-1587)Cag>Gag	p.Q529E	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.Q324E|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.Q258E|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.Q362E	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	529						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACTTTCCTCTCAGCATTCCTC	0.428													17	114					0	0	0	0	G	113655241	C	G	113655241	3	3	405	1	0	0	0	0	1	0	0	0	6799	827	29	2	1639	2	GRAMD1C	3	113655241	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	48290039	113655241	84367189	16	77445											
PARP14	54625	broad.mit.edu	37	chr3	122423459	122423459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttccagcaataggaacagGaaacttgggatttcctaaaa	16	10	8	7	0	0	0	0	0	0	0	2	3	2	3	2	3	3	1	2	3	6	5			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:122423459G>A	ENST00000474629.2	+	8	3670	c.3404G>A	c.(3403-3405)gGa>gAa	p.G1135E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1135	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATAGGAACAGGAAACTTGGGA	0.358													4	15					0	0	0	0	A	122423459	G	A	122423459	3	1	405	1	0	0	0	0	1	0	0	0	11529	1174	41	2	3434	2	PARP14	3	122423459	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	8768218	122423459	75598971	17	77446											
GFM1	85476	broad.mit.edu	37	chr3	158363534	158363534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actacattaacagaacgagtCctttactacactggcagaat	15	10	6	10	1	0	2	0	0	0	2	1	3	1	2	1	1	5	1	1	1	6	5			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:158363534C>T	ENST00000486715.1	+	2	555	c.198C>T	c.(196-198)gtC>gtT	p.V66V	GFM1_ENST00000478576.1_Silent_p.V66V|GFM1_ENST00000264263.5_Silent_p.V66V	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	66					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGAACGAGTCCTTTACTACA	0.363													7	104					0	0	0	0	T	158363534	C	T	158363534	2	4	405	1	0	0	0	0	0	0	0	1	6392	842	30	2		2	GFM1	3	158363534	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	35940075	158363534	39658896	18	77447											
SI	6476	broad.mit.edu	37	chr3	164725727	164725727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggtggataatttagttcGtcatttctgcattgattagt	10	18	9	4	1	2	1	1	1	1	0	3	2	2	2	0	2	1	2	0	2	4	8	rs138374817		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:164725727G>A	ENST00000264382.3	-	36	4301	c.4239C>T	c.(4237-4239)gaC>gaT	p.D1413D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1413	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATTTAGTTCGTCATTTCTGC	0.259										HNSCC(35;0.089)			17	57					0	0	0	0	A	164725727	G	A	164725727	2	1	405	1	0	0	0	0	0	0	0	1	14385	1136	40	1		1	SI	3	164725727	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	6362193	164725727	33296703	19	77448											
MUC4	4585	broad.mit.edu	37	chr3	195505842	195505842	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggggtggcgtgaccTgtggatgctgaggaagtgtc	8	8	20	5	1	0	3	0	2	0	1	1	6	0	6	1	6	1	1	1	6	2	0			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:195505842T>G	ENST00000463781.3	-	2	13068	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597													3	8					0	0	0	0	G	195505842	T	G	195505842	2	3	405	1	0	0	0	0	0	0	0	1	10048	1567	55	5		5	MUC4	3	195505842	Silent	SNP	T	TCGA-F7-A620-01A-11D-A28R-08	30780115	195505842	2516588	20	77449											
UGT2B11	10720	broad.mit.edu	37	chr4	70079796	70079796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcaaaataaagcacataGatcatattttttaccctctc	16	13	3	9	0	3	1	2	0	1	1	4	1	3	1	1	0	2	1	1	0	8	6			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr4:70079796G>A	ENST00000446444.1	-	1	653	c.645C>T	c.(643-645)atC>atT	p.I215I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	215					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AAAGCACATAGATCATATTTT	0.348													9	66					0	0	0	0	A	70079796	G	A	70079796	2	1	405	1	0	0	0	0	0	0	0	1	17053	932	33	2		2	UGT2B11	4	70079796	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		70079796	121074480	21	77450											
GRID2	2895	broad.mit.edu	37	chr4	94376882	94376882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtggactttacgacaCgttacatggactactcagtg	10	12	11	8	2	1	0	1	0	0	0	1	3	1	2	0	3	3	1	0	3	3	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr4:94376882C>A	ENST00000282020.4	+	11	1873	c.1615C>A	c.(1615-1617)Cgt>Agt	p.R539S	GRID2_ENST00000510992.1_Missense_Mutation_p.R444S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R539C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTTACGACACGTTACATGGA	0.438													7	110					2.0095e-06	2.20608e-06	1	0	A	94376882	C	A	94376882	3	1	405	1	0	0	0	0	1	0	0	0	6822	536	19	3	1657	3	GRID2	4	94376882	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	24297086	94376882	96777394	22	77451											
GRID2	2895	broad.mit.edu	37	chr4	94376929	94376929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcgaagggctgaaaaGacagtggatatgtttgcctg	11	11	12	7	1	0	2	0	1	0	1	1	4	0	3	1	2	2	2	1	2	5	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr4:94376929G>T	ENST00000282020.4	+	11	1920	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	GRID2_ENST00000510992.1_Missense_Mutation_p.K459N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	554					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGGCTGAAAAGACAGTGGATA	0.473													7	102					0.000157383	0.000167323	1	0	T	94376929	G	T	94376929	3	4	405	1	0	0	0	0	1	0	0	0	6822	933	33	2	1704	2	GRID2	4	94376929	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	47	94376929	96777347	23	77452											
MTTP	4547	broad.mit.edu	37	chr4	100534246	100534246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctgtcagcatctggCgaccctatcagtgtggtgaa	11	10	11	9	1	3	1	2	1	1	0	3	2	3	1	1	2	2	2	1	2	4	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr4:100534246C>T	ENST00000457717.1	+	16	2422	c.2166C>T	c.(2164-2166)ggC>ggT	p.G722G	MTTP_ENST00000265517.5_Silent_p.G722G|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.G749G	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	722					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAGCATCTGGCGACCCTATCA	0.423													13	43					0	0	0	0	T	100534246	C	T	100534246	2	4	405	1	0	0	0	0	0	0	0	1	10034	755	27	1		1	MTTP	4	100534246	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	6157317	100534246	90620030	24	77453											
GFRA3	2676	broad.mit.edu	37	chr5	137593486	137593486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggccctgcgcgtggggCtcggcggccttctcgaagaa	6	6	16	13	5	1	1	0	0	1	1	3	2	1	1	2	5	2	2	2	5	2	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:137593486C>T	ENST00000274721.3	-	4	873	c.627G>A	c.(625-627)gaG>gaA	p.E209E	GFRA3_ENST00000378362.3_Silent_p.E178E	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	209					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCGCGTGGGGCTCGGCGGCCT	0.731													13	58					0	0	0	0	T	137593486	C	T	137593486	2	4	405	1	0	0	0	0	0	0	0	1	6400	796	28	4		4	GFRA3	5	137593486	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08		137593486	43321774	25	77454											
PCDHA9	9752	broad.mit.edu	37	chr5	140229647	140229647	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgtacgcgctgcagccgTtggaccacgaggagctggag	8	6	17	10	4	0	0	0	0	0	0	0	4	0	3	2	4	4	5	2	4	1	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:140229647T>C	ENST00000378122.3	+	1	2291	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682													6	350					0	0	0	0	C	140229647	T	C	140229647	2	2	405	1	0	0	0	0	0	0	0	1	11602	1722	60	5		5	PCDHA9	5	140229647	Silent	SNP	T	TCGA-F7-A620-01A-11D-A28R-08	2636161	140229647	40685613	26	77455											
PCDHA9	9752	broad.mit.edu	37	chr5	140230586	140230586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatttttctagaaatccagCagattttttttctgataaag	12	18	5	6	0	3	3	1	1	2	2	4	3	4	3	1	0	1	1	1	0	4	8			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:140230586C>G	ENST00000378122.3	+	1	3230	c.2506C>G	c.(2506-2508)Cag>Gag	p.Q836E	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAATCCAGCAGATTTTTTT	0.274													24	179					0	0	0	0	G	140230586	C	G	140230586	3	3	405	1	0	0	0	0	1	0	0	0	11602	711	25	4	2508	4	PCDHA9	5	140230586	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	939	140230586	40684674	27	77456											
PDGFRB	5159	broad.mit.edu	37	chr5	149502614	149502614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcctggtacctgggcaggGggagcccaacgggcagagca	8	4	16	13	1	0	1	0	0	0	1	1	2	1	2	4	5	4	4	4	5	2	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:149502614G>A	ENST00000261799.4	-	15	2643	c.2174C>T	c.(2173-2175)cCc>cTc	p.P725L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	725	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGGGCAGGGGGAGCCCAAC	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								8	156					0	0	0	0	A	149502614	G	A	149502614	3	1	405	1	0	0	0	0	1	0	0	0	11733	1232	43	4	1182	4	PDGFRB	5	149502614	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	9272028	149502614	31412646	28	77457											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247100	26247100	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgccgggccaagcgccGgatagtgcacttggtaatgc	8	7	14	12	3	0	0	0	0	0	0	0	1	0	1	4	3	4	2	4	3	3	3			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:26247100G>T	ENST00000244537.4	-	1	159	c.106C>A	c.(106-108)Cgg>Agg	p.R36R		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	36					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCCAAGCGCCGGATAGTGCAC	0.562													9	61					1.12685e-05	1.22378e-05	1	0	T	26247100	G	T	26247100	2	4	405	1	0	0	0	0	0	0	0	1	7221	1115	39	3		3	HIST1H4G	6	26247100	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		26247100	144867967	29	77458											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114533	27114533	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttagtcacggctttcttCgagcccttcttgggcgcggg	3	12	13	13	4	3	0	1	0	2	0	4	1	3	0	2	3	1	1	2	3	1	5			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:27114533C>A	ENST00000396891.4	-	1	86	c.45G>T	c.(43-45)tcG>tcT	p.S15S	HIST1H2BK_ENST00000356950.1_Silent_p.S15S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGCTTTCTTCGAGCCCTTCT	0.577													33	179					1.08312e-15	1.27204e-15	1	0	A	27114533	C	A	27114533	2	1	405	1	0	0	0	0	0	0	0	1	7200	871	31	3		3	HIST1H2BK	6	27114533	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	867433	27114533	144000534	30	77459											
HLA-B	3106	broad.mit.edu	37	chr6	31324917	31324917	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggaggacggttcGgggcgccatgaccagcatct	9	5	16	11	3	1	1	0	1	1	0	2	4	1	3	2	5	3	4	2	5	0	1	rs41553720		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:31324917G>A	ENST00000412585.2	-	1	47	c.19C>T	c.(19-21)Cga>Tga	p.R7*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGACGGTTCGGGGCGCCATG	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				7	30					0	0	0	0	A	31324917	G	A	31324917	4	1	405	1	0	0	0	0	0	1	0	0	7246	1124	39	1	1097	1	HLA-B	6	31324917	Nonsense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	4210384	31324917	139790150	31	77460											
ANKS1A	23294	broad.mit.edu	37	chr6	35053632	35053632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaagtccagggcgacGggcgcctctgcagctgagat	8	5	15	13	3	1	2	0	1	1	2	2	4	2	2	3	2	2	2	3	2	1	0			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:35053632G>A	ENST00000360359.3	+	22	3360	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1074	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCAGGGCGACGGGCGCCTCTG	0.607													17	47					0	0	0	0	A	35053632	G	A	35053632	2	1	405	1	0	0	0	0	0	0	0	1	687	1103	39	1		1	ANKS1A	6	35053632	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	3728715	35053632	136061435	32	77461											
SCUBE3	222663	broad.mit.edu	37	chr6	35213155	35213155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtaccagagatcttccTgccatctgaggatgagtgtg	8	11	13	9	1	2	3	0	2	2	1	3	5	3	4	3	2	2	1	3	2	1	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:35213155T>C	ENST00000274938.7	+	19	2552	c.2552T>C	c.(2551-2553)cTg>cCg	p.L851P	SCUBE3_ENST00000394681.1_Missense_Mutation_p.L867P	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	851	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GAGATCTTCCTGCCATCTGAG	0.567													8	72					0	0	0	0	C	35213155	T	C	35213155	3	2	405	1	0	0	0	0	1	0	0	0	14033	1580	55	5	2626	5	SCUBE3	6	35213155	Missense_Mutation	SNP	T	TCGA-F7-A620-01A-11D-A28R-08	159523	35213155	135901912	33	77462											
DST	667	broad.mit.edu	37	chr6	56473842	56473842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggattctgttatcatgcTttgagctagagcatccagta	10	14	9	8	0	2	2	1	1	1	1	3	3	3	3	1	1	3	5	1	1	3	5			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:56473842T>C	ENST00000370754.5	-	39	5484	c.5485A>G	c.(5485-5487)Agc>Ggc	p.S1829G	DST_ENST00000370769.4_Missense_Mutation_p.S1651G|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S1651G|DST_ENST00000312431.6_Missense_Mutation_p.S1651G|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S1325G|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	1651					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTATCATGCTTTGAGCTAGA	0.428													51	232					0	0	0	0	C	56473842	T	C	56473842	3	2	405	1	0	0	0	0	1	0	0	0	4819	1624	56	5		5	DST	6	56473842	Missense_Mutation	SNP	T	TCGA-F7-A620-01A-11D-A28R-08	21260687	56473842	114641225	34	77463											
POPDC3	64208	broad.mit.edu	37	chr6	105607694	105607694	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcaactgtcactctgatCctatcaaaacacaagaacaa	17	8	3	13	0	4	2	3	1	1	1	5	2	5	2	2	0	3	0	2	0	7	1	rs149894294		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:105607694C>A	ENST00000254765.3	-	3	764	c.485_splice	c.e3-1	p.R162_splice	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	162						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TCACTCTGATCCTATCAAAAC	0.463													4	46					0.00909568	0.00937412	1	0	A	105607694	C	A	105607694	5	1	405	1	0	0	0	0	0	0	1	0	12328	869	30	2	397	2	POPDC3	6	105607694	Splice_Site	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	49133852	105607694	65507373	35	77464											
PHKG1	5260	broad.mit.edu	37	chr7	62693665	62693666	+	RNA	INS	-	-	C																															acagtcagagcgatcacctgINSaaggccacgcggagaagctg																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr7:62693665_62693666insC	ENST00000451381.1	-	0	181																											GCGATCACCTGAAGGCCACGCG	0.653													5	3	---	---	---	---					C	62693666	-	C	62693665	6	5	405	0	1	1	1	0	0	0	0	0	11918	1305	45	0		0	PHKG1	7	62693665	RNA	INS	-	TCGA-F7-A620-01A-11D-A28R-08		62693665	96444998	36	77465											
ANKIB1	54467	broad.mit.edu	37	chr7	92027950	92027950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgaaccctcagagtattgCcctgattcctccagcaacta	11	10	6	14	0	1	3	1	2	0	1	3	3	3	3	4	0	4	2	4	0	4	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr7:92027950C>T	ENST00000265742.3	+	20	3333	c.2957C>T	c.(2956-2958)gCc>gTc	p.A986V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	986							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAGTATTGCCCTGATTCCT	0.498													22	110					0	0	0	0	T	92027950	C	T	92027950	3	4	405	1	0	0	0	0	1	0	0	0	630	739	26	4	3031	4	ANKIB1	7	92027950	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	29334285	92027950	67110713	37	77466											
VPS37A	137492	broad.mit.edu	37	chr8	17133958	17133958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtccctgatgcatttcCagaactctcagaactaaggt	12	11	8	10	0	1	4	1	1	1	3	4	4	3	4	2	1	3	1	2	1	3	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr8:17133958C>G	ENST00000324849.4	+	6	1369	c.695C>G	c.(694-696)cCa>cGa	p.P232R	VPS37A_ENST00000521829.1_Missense_Mutation_p.P207R	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	232					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GATGCATTTCCAGAACTCTCA	0.313													5	38					0	0	0	0	G	17133958	C	G	17133958	3	3	405	1	0	0	0	0	1	0	0	0	17301	594	21	4	717	4	VPS37A	8	17133958	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08		17133958	129230064	38	77467											
SMARCA2	6595	broad.mit.edu	37	chr9	2058446	2058446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagagcggattgaaaaggaGagaatgcggcgactgatggt	14	6	16	5	3	0	4	0	2	0	2	0	8	0	6	0	4	2	0	0	4	3	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:2058446G>A	ENST00000382203.1	+	8	1712	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	SMARCA2_ENST00000382194.1_Silent_p.E501E|SMARCA2_ENST00000349721.2_Silent_p.E501E|SMARCA2_ENST00000357248.2_Silent_p.E501E			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	501	HSA.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTGAAAAGGAGAGAATGCGGC	0.512													17	133					0	0	0	0	A	2058446	G	A	2058446	2	1	405	1	0	0	0	0	0	0	0	1	14857	933	33	2		2	SMARCA2	9	2058446	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		2058446	139154985	39	77468											
MAPKAP1	79109	broad.mit.edu	37	chr9	128246829	128246829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtggctatgtcaatttgcGaatcctcctcaaaaaccccg	10	11	7	13	2	2	0	2	0	0	0	4	1	4	0	4	1	2	1	4	1	5	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:128246829G>A	ENST00000265960.3	-	9	1432	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	MAPKAP1_ENST00000373497.5_Missense_Mutation_p.S80L|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.S367L|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.S175L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S331L|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.S175L	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	367					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTCAATTTGCGAATCCTCCTC	0.453													13	57					0	0	0	0	A	128246829	G	A	128246829	3	1	405	1	0	0	0	0	1	0	0	0	9357	1059	37	1	484	1	MAPKAP1	9	128246829	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	126188383	128246829	12966602	40	77469											
ENG	2022	broad.mit.edu	37	chr9	130605480	130605480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatgtcacctcgcccctctCggggcccacaggctgaaggt	7	8	11	15	2	2	1	1	1	1	0	4	1	2	1	4	4	0	1	4	4	2	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:130605480C>T	ENST00000344849.3	-	2	392	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ENG_ENST00000373203.4_Missense_Mutation_p.E38K			P17813	EGLN_HUMAN	endoglin	38					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TCGCCCCTCTCGGGGCCCACA	0.547									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				22	127					0	0	0	0	T	130605480	C	T	130605480	3	4	405	1	0	0	0	0	1	0	0	0	5155	893	31	1	1946	1	ENG	9	130605480	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	2358651	130605480	10607951	41	77470											
OLFM1	10439	broad.mit.edu	37	chr9	137998599	137998599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgctcttttccagcttgCgggaagttgacgggcatcag	6	11	14	10	3	2	1	1	1	1	0	3	2	3	2	1	2	3	4	1	2	1	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:137998599C>T	ENST00000252854.4	+	5	814	c.627C>T	c.(625-627)tgC>tgT	p.C209C	OLFM1_ENST00000371793.3_Silent_p.C227C|OLFM1_ENST00000371796.3_Silent_p.C200C	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	227					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TTCCAGCTTGCGGGAAGTTGA	0.647													7	23					0	0	0	0	T	137998599	C	T	137998599	2	4	405	1	0	0	0	0	0	0	0	1	10923	776	27	1		1	OLFM1	9	137998599	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	7393119	137998599	3214832	42	77471											
AGAP7	653268	broad.mit.edu	37	chr10	51464838	51464838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggatccaccgttcctTctcttccctcgtggactttt	5	14	8	14	3	1	0	0	0	1	0	6	3	4	3	4	3	1	1	4	3	1	5			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr10:51464838T>C	ENST00000374095.5	-	7	1743	c.1618A>G	c.(1618-1620)Aag>Gag	p.K540E		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	540	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CACCGTTCCTTCTCTTCCCTC	0.572													22	215					0	0	0	0	C	51464838	T	C	51464838	3	2	405	1	0	0	0	0	1	0	0	0	373	1792	62	5	377	5	AGAP7	10	51464838	Missense_Mutation	SNP	T	TCGA-F7-A620-01A-11D-A28R-08		51464838	84069909	43	77472											
MKI67	4288	broad.mit.edu	37	chr10	129903554	129903554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggttgggcttttcccttagGagttcttggctgcctcttgc	2	16	13	10	0	2	0	0	0	2	0	3	1	3	1	2	4	2	4	2	4	1	7			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr10:129903554G>C	ENST00000368654.3	-	13	6925	c.6550C>G	c.(6550-6552)Cct>Gct	p.P2184A	MKI67_ENST00000368653.3_Missense_Mutation_p.P1824A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2184	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCCCTTAGGAGTTCTTGGC	0.488													40	181					0	0	0	0	C	129903554	G	C	129903554	3	2	405	1	0	0	0	0	1	0	0	0	9667	1174	41	2	3232	2	MKI67	10	129903554	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	78438716	129903554	5631193	44	77473											
CCDC73	493860	broad.mit.edu	37	chr11	32635518	32635518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgtgaagcatgactattCtcattgttaagatgaagatg	12	14	10	5	0	1	5	1	3	1	2	2	5	1	5	0	0	1	3	0	0	4	5			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:32635518C>T	ENST00000335185.5	-	16	2389	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	782										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)					CATGACTATTCTCATTGTTAA	0.323													7	32					0	0	0	0	T	32635518	C	T	32635518	2	4	405	1	0	0	0	0	0	0	0	1	2873	912	32	2		2	CCDC73	11	32635518	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08		32635518	102370998	45	77474											
CHRM4	1132	broad.mit.edu	37	chr11	46406910	46406910	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatggcaaagatcgttcGtgtcactttgcgctcccggg	8	10	12	11	4	1	2	1	0	0	2	4	2	2	2	1	2	1	3	1	2	2	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:46406910G>A	ENST00000433765.2	-	1	1197	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	400					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AAGATCGTTCGTGTCACTTTG	0.617													9	76					0	0	0	0	A	46406910	G	A	46406910	4	1	405	1	0	0	0	0	0	1	0	0	3408	1153	40	1	245	1	CHRM4	11	46406910	Nonsense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	13771392	46406910	88599606	46	77475											
OR5M9	390162	broad.mit.edu	37	chr11	56230199	56230199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgccatcggcagagcGcatgcgtagcacagctacta	9	7	10	15	3	0	1	0	0	0	1	2	1	1	1	3	1	6	5	3	1	3	3			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:56230199G>A	ENST00000279791.1	-	1	678	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCGGCAGAGCGCATGCGTAGC	0.488													4	29					0	0	0	0	A	56230199	G	A	56230199	3	1	405	1	0	0	0	0	1	0	0	0	11248	1087	38	1	255	1	OR5M9	11	56230199	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	9823289	56230199	78776317	47	77476											
CDON	50937	broad.mit.edu	37	chr11	125875682	125875682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcacaaagtaagcattgAtgggcagcccaccatccttg	12	9	8	12	0	1	1	1	1	0	0	2	1	2	1	3	1	2	3	3	1	2	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:125875682A>G	ENST00000392693.3	-	9	1950	c.1823T>C	c.(1822-1824)aTc>aCc	p.I608T	CDON_ENST00000263577.7_Missense_Mutation_p.I608T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	608	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTAAGCATTGATGGGCAGCCC	0.493													9	57					0	0	0	0	G	125875682	A	G	125875682	3	3	405	1	0	0	0	0	1	0	0	0	3199	333	12	5	2019	5	CDON	11	125875682	Missense_Mutation	SNP	A	TCGA-F7-A620-01A-11D-A28R-08	69645483	125875682	9130834	48	77477											
BHLHE41	79365	broad.mit.edu	37	chr12	26276085	26276085	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtcggactgaatgggcgaTttcagagatcgctcccctag	10	9	12	10	3	1	2	1	1	0	1	4	5	2	3	2	2	0	1	2	2	3	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr12:26276085T>C	ENST00000242728.4	-	5	710	c.363A>G	c.(361-363)aaA>aaG	p.K121K		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	121					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GAATGGGCGATTTCAGAGATC	0.527											OREG0021711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	0	0	C	26276085	T	C	26276085	2	2	405	1	0	0	0	0	0	0	0	1	1429	1490	52	5		5	BHLHE41	12	26276085	Silent	SNP	T	TCGA-F7-A620-01A-11D-A28R-08		26276085	107575810	49	77478											
PTPRB	5787	broad.mit.edu	37	chr12	70988277	70988277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttccacctgtagttttGcagccctgcagcctcagtca	7	13	8	13	0	2	0	2	0	0	0	3	0	3	0	4	0	4	5	4	0	2	5			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr12:70988277G>T	ENST00000334414.6	-	6	1530	c.1486C>A	c.(1486-1488)Caa>Aaa	p.Q496K	PTPRB_ENST00000550358.1_Missense_Mutation_p.Q496K|PTPRB_ENST00000551525.1_Missense_Mutation_p.Q495K|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q278K|PTPRB_ENST00000451516.2_Missense_Mutation_p.Q278K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q278K|PTPRB_ENST00000261266.5_Missense_Mutation_p.Q278K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	278	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGTAGTTTTGCAGCCCTGCA	0.458													13	47					1.5842e-08	1.77782e-08	1	0	T	70988277	G	T	70988277	3	4	405	1	0	0	0	0	1	0	0	0	12878	1328	46	4	5277	4	PTPRB	12	70988277	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	44712192	70988277	62863618	50	77479											
NEDD1	121441	broad.mit.edu	37	chr12	97339486	97339486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagatccaaagatagcatCttctgtcactgctggagttg	10	14	9	8	0	3	2	1	0	2	2	4	3	4	3	1	1	2	3	1	1	3	5			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr12:97339486C>T	ENST00000266742.4	+	14	2009	c.1670C>T	c.(1669-1671)tCt>tTt	p.S557F	NEDD1_ENST00000429527.2_Missense_Mutation_p.S557F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S468F|NEDD1_ENST00000557644.1_Missense_Mutation_p.S564F|NEDD1_ENST00000411739.2_Missense_Mutation_p.S468F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	557					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AAGATAGCATCTTCTGTCACT	0.363													9	35					0	0	0	0	T	97339486	C	T	97339486	3	4	405	1	0	0	0	0	1	0	0	0	10379	913	32	2	1741	2	NEDD1	12	97339486	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	26351209	97339486	36512409	51	77480											
DIS3	22894	broad.mit.edu	37	chr13	73349380	73349382	+	In_Frame_Del	DEL	TCT	TCT	-																															tctcttcttctttctccacaTcttcttcattttgaccttca																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr13:73349380_73349382delTCT	ENST00000377767.4	-	6	1054_1056	c.954_956delAGA	c.(952-957)gat>ga	p.ED318del	DIS3_ENST00000545453.1_In_Frame_Del_p.ED156del|DIS3_ENST00000377780.4_In_Frame_Del_p.ED288del	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	318					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTTCTCCACATCTTCTTCATTTT	0.394										Multiple Myeloma(4;0.011)			27	91	---	---	---	---					-	73349382	TCT	-	73349380	7	5	405	1	0	1	0	1	0	0	0	0	4572	1435	50	0	1984	0	DIS3	13	73349380	In_Frame_Del	DEL	TCT	TCGA-F7-A620-01A-11D-A28R-08		73349380	41820498	52	77481											
TEP1	7011	broad.mit.edu	37	chr14	20836706	20836706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcactgacccttcgcatcGgaacaggcccagctacgatg	9	7	10	15	3	1	1	1	1	0	0	3	3	1	2	2	2	3	3	2	2	2	2	rs151082585	by1000genomes	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr14:20836706G>A	ENST00000262715.5	-	55	7814	c.7774C>T	c.(7774-7776)Cga>Tga	p.R2592*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.R2484*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2592					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTCGCATCGGAACAGGCCC	0.502													11	60					0	0	0	0	A	20836706	G	A	20836706	4	1	405	1	0	0	0	0	0	1	0	0	15853	1124	39	1	113	1	TEP1	14	20836706	Nonsense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		20836706	86512834	53	77482											
SYNE2	23224	broad.mit.edu	37	chr14	64467347	64467347	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgaagttagaaaatcAtgtgaatgacataaaaaagc	19	11	7	4	0	2	4	2	3	0	1	2	4	2	4	0	0	1	1	0	0	8	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr14:64467347A>T	ENST00000357395.3	+	0	3778				SYNE2_ENST00000554584.1_Missense_Mutation_p.H1183L|SYNE2_ENST00000358025.3_Missense_Mutation_p.H1183L|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1183L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTAGAAAATCATGTGAATGAC	0.303													14	61					0	0	0	0	T	64467347	A	T	64467347	1	4	405	1	0	0	0	0	0	0	0	0	15537	217	8	5		5	SYNE2	14	64467347	Translation_Start_Site	SNP	A	TCGA-F7-A620-01A-11D-A28R-08	43630641	64467347	42882193	54	77483											
CASC5	57082	broad.mit.edu	37	chr15	40915815	40915816	+	Frame_Shift_Del	DEL	TG	TG	-																															aggggcttctaaaactatttTgtattcatgtgggcaggatg																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:40915815_40915816delTG	ENST00000346991.5	+	11	3821_3822	c.3431_3432delTG	c.(3430-3432)tfs	p.L1144fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.L1118fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1144	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAACTATTTTGTATTCATGTG	0.426													15	75	---	---	---	---					-	40915816	TG	-	40915815	7	5	405	1	0	1	0	1	0	0	0	0	2688	1821	63	0	3469	0	CASC5	15	40915815	Frame_Shift_Del	DEL	TG	TCGA-F7-A620-01A-11D-A28R-08		40915815	61615577	55	77484											
ONECUT1	3175	broad.mit.edu	37	chr15	53049960	53049960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgcatgtagagttcgaCgctggacatctgtgaagacc	11	11	11	8	2	1	3	0	1	1	2	2	5	1	4	1	1	1	4	1	1	3	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:53049960C>T	ENST00000305901.5	-	2	1317	c.1190G>A	c.(1189-1191)cGt>cAt	p.R397H	ONECUT1_ENST00000560699.2_Missense_Mutation_p.V38I|ONECUT1_ENST00000561401.2_5'UTR	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	397					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TAGAGTTCGACGCTGGACATC	0.468													25	193					0	0	0	0	T	53049960	C	T	53049960	3	4	405	1	0	0	0	0	1	0	0	0	10939	536	19	1	211	1	ONECUT1	15	53049960	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	12134145	53049960	49481432	56	77485											
HERC1	8925	broad.mit.edu	37	chr15	63904614	63904614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgctgctcatccacctCacggtaccgcaccactttct	7	11	6	17	2	3	1	2	1	1	0	4	1	4	1	4	1	3	4	4	1	1	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:63904614C>T	ENST00000443617.2	-	77	14323	c.14236G>A	c.(14236-14238)Gag>Aag	p.E4746K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4746	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCATCCACCTCACGGTACCGC	0.552													18	111					0	0	0	0	T	63904614	C	T	63904614	3	4	405	1	0	0	0	0	1	0	0	0	7107	835	29	2	357	2	HERC1	15	63904614	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	10854654	63904614	38626778	57	77486											
CSPG4	1464	broad.mit.edu	37	chr15	75981284	75981284	+	Missense_Mutation	SNP	G	G	T																															cttctgcagctccccaaactGcagggccccagtgacgcgga																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:75981284G>T	ENST00000308508.5	-	3	2214	c.2122C>A	c.(2122-2124)Cag>Aag	p.Q708K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	708	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCCCCAAACTGCAGGGCCCCA	0.672													6	181					0.00307968	0.00324008	1	0	T	75981284	G	T	75981284	3	4	405	1	0	0	0	0	1	0	0	0	3992	1328	46	4	4878	4	CSPG4	15	75981284	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	12076670	75981284	26550108	58	77487	1032	3									
CSPG4	1464	broad.mit.edu	37	chr15	75981291	75981291	+	Silent	SNP	C	C	T																															agctccccaaactgcagggcCccagtgacgcggaacagcac																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:75981291C>T	ENST00000308508.5	-	3	2207	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	705	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTGCAGGGCCCCAGTGACGC	0.667													5	181					0	0	0	0	T	75981291	C	T	75981291	2	4	405	1	0	0	0	0	0	0	0	1	3992	610	22	4		4	CSPG4	15	75981291	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	7	75981291	26550101	59	77488	1032	3									
CSPG4	1464	broad.mit.edu	37	chr15	75981297	75981297	+	Silent	SNP	G	G	A																															ccaaactgcagggccccagtGacgcggaacagcacgctcac																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:75981297G>A	ENST00000308508.5	-	3	2201	c.2109C>T	c.(2107-2109)gtC>gtT	p.V703V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	703	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGCCCCAGTGACGCGGAACA	0.667													5	178					0	0	0	0	A	75981297	G	A	75981297	2	1	405	1	0	0	0	0	0	0	0	1	3992	1277	45	2		2	CSPG4	15	75981297	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	6	75981297	26550095	60	77489	1032	3									
BAIAP3	8938	broad.mit.edu	37	chr16	1388958	1388958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcctcatgctgaagaagGgggaaggcagacagggcttg	10	6	17	8	1	1	3	1	1	0	2	1	4	1	4	1	4	2	3	1	4	3	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr16:1388958G>T	ENST00000324385.5	+	3	450	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	BAIAP3_ENST00000426824.3_Missense_Mutation_p.G63W|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G63W	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	98					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCTGAAGAAGGGGGAAGGCAG	0.657													22	171					1.22574e-08	1.39101e-08	1	0	T	1388958	G	T	1388958	3	4	405	1	0	0	0	0	1	0	0	0	1308	1232	43	4	302	4	BAIAP3	16	1388958	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		1388958	88965795	61	77490											
SALL1	6299	broad.mit.edu	37	chr16	51175382	51175382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagcaatatttggtgacGaatctgttcgatcaattgca	13	12	8	8	2	2	1	1	1	1	0	3	3	2	1	0	1	3	3	0	1	5	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr16:51175382G>A	ENST00000440970.1	-	2	891	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R251C|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	251	Poly-Ser.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R251C(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATTTGGTGACGAATCTGTTCG	0.532													14	120					0	0	0	0	A	51175382	G	A	51175382	3	1	405	1	0	0	0	0	1	0	0	0	13895	1058	37	1	3231	1	SALL1	16	51175382	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	49786424	51175382	39179371	62	77491											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-																															ccccagatcactgcctctccCagcagcagcagcagcggtag																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													8	158	---	---	---	---					-	67913769	CAG	-	67913767	7	5	405	1	0	1	0	1	0	0	0	0	4944	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-F7-A620-01A-11D-A28R-08	16738385	67913767	22440986	63	77492											
ABR	29	broad.mit.edu	37	chr17	910416	910416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtacctgcgccatgaCgtcatgggaccagatgtccg	8	7	13	13	3	1	2	1	1	0	1	2	3	2	3	5	2	2	1	5	2	1	1	rs111816976		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr17:910416C>T	ENST00000544583.2	-	22	2940	c.2341G>A	c.(2341-2343)Gtc>Atc	p.V781I	ABR_ENST00000302538.5_Missense_Mutation_p.V827I|ABR_ENST00000572441.1_Intron|ABR_ENST00000291107.2_Missense_Mutation_p.V790I|ABR_ENST00000543210.2_Missense_Mutation_p.V278I|ABR_ENST00000536794.2_Missense_Mutation_p.V609I|ABR_ENST00000574437.1_Missense_Mutation_p.V781I	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	827	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGCCATGACGTCATGGGAC	0.662													6	87					0	0	0	0	T	910416	C	T	910416	3	4	405	1	0	0	0	0	1	0	0	0	99	536	19	1	108	1	ABR	17	910416	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08		910416	80284794	64	77493											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	7	5	18	11	4	1	0	1	0	0	0	1	2	1	1	2	5	3	1	2	5	2	0	rs28934874		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			29	61					0	0	0	0	A	7578479	G	A	7578479	3	1	405	1	0	0	0	0	1	0	0	0	16476	1261	44	4	847	4	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	6668063	7578479	73616731	65	77494											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39279791	39279791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaagaggaggcacagCacaaggggcgggggcaggtg	12	1	20	8	1	0	1	0	0	0	1	0	2	0	2	0	7	3	5	0	7	2	0			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr17:39279791C>T	ENST00000394014.1	-	1	628	c.584G>A	c.(583-585)tGc>tAc	p.C195Y		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	195						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGAGGCACAGCACAAGGGGCG	0.572													6	18					0	0	0	0	T	39279791	C	T	39279791	3	4	405	1	0	0	0	0	1	0	0	0	8603	710	25	4	25	4	KRTAP4-12	17	39279791	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	31701312	39279791	41915419	66	77495											
ASXL3	80816	broad.mit.edu	37	chr18	31319576	31319576	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtgtcttccatgcttctCacctctgagaccacttttgt	6	16	6	13	0	4	1	2	1	3	1	6	2	5	1	3	0	1	1	3	0	0	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr18:31319576C>G	ENST00000269197.5	+	11	2208	c.2208C>G	c.(2206-2208)ctC>ctG	p.L736L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	736	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCATGCTTCTCACCTCTGAGA	0.408													12	260					0	0	0	0	G	31319576	C	G	31319576	2	3	405	1	0	0	0	0	0	0	0	1	1072	813	29	2		2	ASXL3	18	31319576	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08		31319576	46757672	67	77496											
B3GNT3	10331	broad.mit.edu	37	chr19	17918691	17918691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttcaccctcctcctcttCagtctgctagtgtcaccacc	5	13	5	18	0	5	0	3	0	2	0	7	0	7	0	5	0	1	2	5	0	1	3			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:17918691C>T	ENST00000318683.6	+	2	222	c.75C>T	c.(73-75)ttC>ttT	p.F25F	B3GNT3_ENST00000595387.1_Silent_p.F25F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	25					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCCTCCTCTTCAGTCTGCTAG	0.687													12	62					0	0	0	0	T	17918691	C	T	17918691	2	4	405	1	0	0	0	0	0	0	0	1	1262	825	29	2		2	B3GNT3	19	17918691	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08		17918691	41210292	68	77497											
CRTC1	23373	broad.mit.edu	37	chr19	18856686	18856686	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggaccacccggcaccatggGctggtggacagggtgtaccg	7	5	16	13	3	0	0	0	0	0	0	0	2	0	2	4	6	1	3	4	6	1	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:18856686G>T	ENST00000338797.6	+	4	370	c.345G>T	c.(343-345)ggG>ggT	p.G115G	CRTC1_ENST00000601916.1_Silent_p.G24G|CRTC1_ENST00000594658.1_Silent_p.G58G|CRTC1_ENST00000321949.8_Silent_p.G99G	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	99					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GGCACCATGGGCTGGTGGACA	0.632													9	142					9.70103e-10	1.11341e-09	1	0	T	18856686	G	T	18856686	2	4	405	1	0	0	0	0	0	0	0	1	3929	1190	42	4		4	CRTC1	19	18856686	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	937995	18856686	40272297	69	77498											
PSG8	440533	broad.mit.edu	37	chr19	43268418	43268418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtgggtgggttccagAagtttaaaagtgatgctagg	10	11	15	5	1	0	2	0	1	0	1	2	2	1	2	1	3	1	3	1	3	4	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:43268418A>T	ENST00000404209.4	-	2	176	c.80T>A	c.(79-81)tTc>tAc	p.F27Y	PSG8_ENST00000401467.2_Missense_Mutation_p.F27Y|PSG8_ENST00000306511.4_Missense_Mutation_p.F27Y|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	27						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGGGTTCCAGAAGTTTAAAAG	0.488													34	163					0	0	0	0	T	43268418	A	T	43268418	3	4	405	1	0	0	0	0	1	0	0	0	12740	246	9	5	1237	5	PSG8	19	43268418	Missense_Mutation	SNP	A	TCGA-F7-A620-01A-11D-A28R-08	24411732	43268418	15860565	70	77499											
ZNF813	126017	broad.mit.edu	37	chr19	53995284	53995284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgcacgtcatcatagaCttcatactggagagaaacct	13	10	7	11	1	3	2	3	0	0	2	3	4	3	3	2	1	3	1	2	1	3	4			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:53995284C>A	ENST00000396403.4	+	4	1926	c.1798C>A	c.(1798-1800)Ctt>Att	p.L600I	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATCATAGACTTCATACTGG	0.368													3	36					0.115264	0.116417	1	0	A	53995284	C	A	53995284	3	1	405	1	0	0	0	0	1	0	0	0	18268	565	20	4	1808	4	ZNF813	19	53995284	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	10726866	53995284	5133699	71	77500											
ZNF135	7694	broad.mit.edu	37	chr19	58578599	58578599	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgtcacgaatgcttaaaAggcttccggaacagctcggc	12	8	11	10	3	1	0	1	0	0	0	3	3	2	1	1	3	3	3	1	3	5	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:58578599A>G	ENST00000506786.1	+	5	1175	c.621A>G	c.(619-621)aaA>aaG	p.K207K	ZNF135_ENST00000511556.1_Silent_p.K261K|ZNF135_ENST00000401053.4_Silent_p.K273K|ZNF135_ENST00000359978.6_Silent_p.K261K|ZNF135_ENST00000439855.2_Silent_p.K249K|ZNF135_ENST00000313434.5_Silent_p.K249K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	261					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATGCTTAAAAGGCTTCCGGA	0.498													4	221					0	0	0	0	G	58578599	A	G	58578599	2	3	405	1	0	0	0	0	0	0	0	1	17820	69	3	5		5	ZNF135	19	58578599	Silent	SNP	A	TCGA-F7-A620-01A-11D-A28R-08	4583315	58578599	550384	72	77501											
ISM1	140862	broad.mit.edu	37	chr20	13260439	13260439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggggaccaggactacaaGtacgacagtacctcagacga	14	4	12	11	3	1	1	1	0	0	1	1	5	1	3	2	3	4	2	2	3	4	3			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr20:13260439G>A	ENST00000262487.3	+	3	543	c.537G>A	c.(535-537)aaG>aaA	p.K179K	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	179						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AGGACTACAAGTACGACAGTA	0.612													23	90					0	0	0	0	A	13260439	G	A	13260439	2	1	405	1	0	0	0	0	0	0	0	1	7913	1020	36	4		4	ISM1	20	13260439	Silent	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		13260439	49765081	73	77502											
CST5	1473	broad.mit.edu	37	chr20	23858182	23858182	+	Frame_Shift_Del	DEL	A	A	-																															cattgaagggacagttgtccAagttgggctgggacttggtg																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr20:23858182delA	ENST00000304710.4	-	2	378	c.305delT	c.(304-306)tgfs	p.L102fs		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	102						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						ACAGTTGTCCAAGTTGGGCTG	0.527													16	112	---	---	---	---					-	23858182	A	-	23858182	7	5	405	1	0	1	0	1	0	0	0	0	4007	131	5	0	131	0	CST5	20	23858182	Frame_Shift_Del	DEL	A	TCGA-F7-A620-01A-11D-A28R-08	10597743	23858182	39167338	74	77503											
CASS4	57091	broad.mit.edu	37	chr20	55027486	55027486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctccaccacatccacCgacgactcctccagctcttc	7	9	5	20	3	1	0	0	0	1	0	7	2	5	0	6	0	2	2	6	0	0	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr20:55027486C>T	ENST00000371336.3	+	5	1455	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.T418T	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	418	Ser-rich.				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						CCACATCCACCGACGACTCCT	0.567													3	41					0	0	0	0	T	55027486	C	T	55027486	2	4	405	1	0	0	0	0	0	0	0	1	2708	639	23	1		1	CASS4	20	55027486	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	31169304	55027486	7998034	75	77504											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007656	32007656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcggtggctatggctgtgGctgtggttatggccatggct	3	12	19	7	1	0	0	0	0	0	0	0	0	0	0	1	8	0	5	1	8	2	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr21:32007656G>C	ENST00000330798.2	+	1	102	c.74G>C	c.(73-75)gGc>gCc	p.G25A		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	25						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TATGGCTGTGGCTGTGGTTAT	0.547													10	129					0	0	0	0	C	32007656	G	C	32007656	3	2	405	1	0	0	0	0	1	0	0	0	8589	1203	42	4	76	4	KRTAP20-2	21	32007656	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08		32007656	16122239	76	77505											
MYH9	4627	broad.mit.edu	37	chr22	36689510	36689512	+	In_Frame_Del	DEL	CTC	CTC	-																															aggctcagcttctgccggttCtcctcctgcagcagctccta																										TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr22:36689510_36689512delCTC	ENST00000216181.5	-	30	4188_4190	c.3958_3960delGAG	c.(3958-3960)del	p.E1320del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1320					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E1320D(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGCCGGTTCTCCTCCTGCAGC	0.616			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				24	144	---	---	---	---					-	36689512	CTC	-	36689510	7	5	405	1	0	1	0	1	0	0	0	0	10112	912	32	0	1970	0	MYH9	22	36689510	In_Frame_Del	DEL	CTC	TCGA-F7-A620-01A-11D-A28R-08		36689510	14615056	77	77506											
CARD10	29775	broad.mit.edu	37	chr22	37891880	37891880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtccaccagtcgaaggatCtcttgggctttcacgcaaag	10	9	11	11	2	2	0	1	0	1	0	5	3	3	1	2	2	0	2	2	2	2	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr22:37891880C>T	ENST00000403299.1	-	15	2406	c.2190G>A	c.(2188-2190)gaG>gaA	p.E730E	CARD10_ENST00000251973.5_Silent_p.E730E|CARD10_ENST00000406271.3_Silent_p.E444E			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	730					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCGAAGGATCTCTTGGGCTT	0.627													6	72					0	0	0	0	T	37891880	C	T	37891880	2	4	405	1	0	0	0	0	0	0	0	1	2669	912	32	2		2	CARD10	22	37891880	Silent	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	1202370	37891880	13412686	78	77507											
PARVB	29780	broad.mit.edu	37	chr22	44527492	44527492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgaggctgggcgctcCggtggagcgtggactgtgag	4	6	20	11	4	0	1	0	1	0	0	1	4	1	3	3	6	1	2	3	6	0	0	rs144931273		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr22:44527492C>T	ENST00000338758.6	+	5	565	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	PARVB_ENST00000406477.3_Missense_Mutation_p.R201W|PARVB_ENST00000404989.1_Missense_Mutation_p.R131W	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	168	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				CTGGGCGCTCCGGTGGAGCGT	0.602													5	31					0	0	0	0	T	44527492	C	T	44527492	3	4	405	1	0	0	0	0	1	0	0	0	11540	643	23	1	739	1	PARVB	22	44527492	Missense_Mutation	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	6635612	44527492	6777074	79	77508											
ADM2	79924	broad.mit.edu	37	chr22	50921173	50921173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcccccgaagacactcGggcccccgcaggacccaagc	8	2	12	19	4	0	1	0	0	0	1	2	3	0	2	5	3	1	1	5	3	2	0			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr22:50921173G>A	ENST00000362068.2	+	2	553	c.38G>A	c.(37-39)cGg>cAg	p.R13Q	ADM2_ENST00000395737.1_Silent_p.S96S|ADM2_ENST00000395738.2_Silent_p.S96S			Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	48					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGACACTCGGGCCCCCGCA	0.697													9	18					0	0	0	0	A	50921173	G	A	50921173	3	1	405	1	0	0	0	0	1	0	0	0	322	1103	39	1	294	1	ADM2	22	50921173	Missense_Mutation	SNP	G	TCGA-F7-A620-01A-11D-A28R-08	6393681	50921173	383393	80	77509											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7	---	---	---	---					-	38079978	GCA	-	38079976	7	5	405	1	0	1	0	1	0	0	0	0	15254	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-F7-A620-01A-11D-A28R-08		38079976	117190584	81	77510											
WDR13	64743	broad.mit.edu	37	chrX	48457207	48457207	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggctgggcaccccccAgcgctgcgtcggcagtacct	6	5	13	17	3	0	0	0	0	0	0	1	0	0	0	5	3	3	5	5	3	2	1			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chrX:48457207A>C	ENST00000218056.5	+	2	649	c.144A>C	c.(142-144)ccA>ccC	p.P48P	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	48						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GGCACCCCCCAGCGCTGCGTC	0.662													4	13					0	0	0	0	C	48457207	A	C	48457207	2	2	405	1	0	0	0	0	0	0	0	1	17371	175	7	5		5	WDR13	23	48457207	Silent	SNP	A	TCGA-F7-A620-01A-11D-A28R-08	10377231	48457207	106813353	82	77511											
ZIC3	7547	broad.mit.edu	37	chrX	136649867	136649867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctgcgggaagatcttTgcccgttctgagaacctcaa	8	9	12	12	3	3	2	1	1	2	2	3	4	3	3	3	2	3	2	3	2	3	2			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chrX:136649867T>C	ENST00000287538.5	+	1	1567	c.1017T>C	c.(1015-1017)ttT>ttC	p.F339F	ZIC3_ENST00000370606.3_Silent_p.F339F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	339	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GGAAGATCTTTGCCCGTTCTG	0.587													8	159					0	0	0	0	C	136649867	T	C	136649867	2	2	405	1	0	0	0	0	0	0	0	1	17775	1809	63	5		5	ZIC3	23	136649867	Silent	SNP	T	TCGA-F7-A620-01A-11D-A28R-08	88192660	136649867	18620693	83	77512											
MAGEA5	4104	broad.mit.edu	37	chrX	151283859	151283859	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacccagcagcaggcacctCccccagggtgcctgggacca	8	4	12	17	0	0	1	0	1	0	0	1	2	1	2	6	3	3	3	6	3	0	0			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chrX:151283859C>A	ENST00000509345.2	-	0	477																											GCAGGCACCTCCCCCAGGGTG	0.622													17	47					3.41278e-10	3.96197e-10	1	0	A	151283859	C	A	151283859	1	1	405	0	1	0	0	0	0	0	0	0	9236	864	30	2		2	MAGEA5	23	151283859	RNA	SNP	C	TCGA-F7-A620-01A-11D-A28R-08	14633992	151283859	3986701	84	77513											
AGRN	375790	broad.mit.edu	37	chr1	983661	983661	+	Frame_Shift_Del	DEL	G	G	-																															actcacagccctgcttccacGgggggacctgccaggactgg																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:983661delG	ENST00000379370.2	+	23	4071	c.4021delG	c.(4021-4023)ggfs	p.G1342fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1342	EGF-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTGCTTCCACGGGGGGACCTG	0.716													2	4	---	---	---	---					-	983661	G	-	983661	7	5	406	1	0	1	0	1	0	0	0	0	397	1116	39	0	4111	0	AGRN	1	983661	Frame_Shift_Del	DEL	G	TCGA-F7-A622-01A-11D-A28R-08		983661	248266960	1	77514											
RIMS3	9783	broad.mit.edu	37	chr1	41107556	41107556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctccgcaccacattcctGgaggccccagatgaggcagg	9	5	13	14	1	0	2	0	1	0	1	2	4	2	3	5	4	1	3	5	4	0	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:41107556G>A	ENST00000372684.3	-	3	511	c.42C>T	c.(40-42)tcC>tcT	p.S14S	RIMS3_ENST00000372683.1_Silent_p.S14S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	14					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCACATTCCTGGAGGCCCCAG	0.642													12	35					0	0	0	0	A	41107556	G	A	41107556	2	1	406	1	0	0	0	0	0	0	0	1	13454	1335	47	4		4	RIMS3	1	41107556	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	40123895	41107556	208143065	2	77515											
HMCN1	83872	broad.mit.edu	37	chr1	186114938	186114938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgctctgcctcctgtGgaggaggtgaaaagactcgg	8	8	15	10	1	1	2	0	1	1	1	3	4	2	4	3	4	2	1	3	4	2	0			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:186114938G>A	ENST00000271588.4	+	93	14720	c.14491G>A	c.(14491-14493)Gga>Aga	p.G4831R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4831R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4831	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCCTCCTGTGGAGGAGGTGA	0.532													37	96					0	0	0	0	A	186114938	G	A	186114938	3	1	406	1	0	0	0	0	1	0	0	0	7270	1349	47	4	14861	4	HMCN1	1	186114938	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	145007382	186114938	63135683	3	77516											
PTGS2	5743	broad.mit.edu	37	chr1	186646921	186646922	+	Frame_Shift_Ins	INS	-	-	T																															aactttcttcttagaagcaaINStttttccacaatctcatttg																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:186646921_186646922insT	ENST00000367468.5	-	5	634_635	c.498_499insA	c.(496-501)aatgctfs	p.NA166fs	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	166					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CTTAGAAGCAATTTTTCCACAA	0.391													8	82	---	---	---	---					T	186646922	-	T	186646921	7	5	406	1	0	1	1	0	0	0	0	0	12836	98	4	0	1339	0	PTGS2	1	186646921	Frame_Shift_Ins	INS	-	TCGA-F7-A622-01A-11D-A28R-08	531983	186646921	62603700	4	77517											
IGFN1	91156	broad.mit.edu	37	chr1	201195148	201195148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcttcaccctcctgggcatCctccccggccacgaatacca	7	7	7	20	3	1	0	1	0	0	0	4	1	4	0	7	2	1	2	7	2	2	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:201195148C>T	ENST00000335211.4	+	22	10813	c.10683C>T	c.(10681-10683)atC>atT	p.I3561I	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCTGGGCATCCTCCCCGGCC	0.672													26	54					0	0	0	0	T	201195148	C	T	201195148	2	4	406	1	0	0	0	0	0	0	0	1	7643	845	30	2		2	IGFN1	1	201195148	Silent	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	14548227	201195148	48055473	5	77518											
LYST	1130	broad.mit.edu	37	chr1	235969554	235969554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacacatagaccaaatgtctGctgcttggtgcatatgttca	11	12	9	9	0	2	1	1	0	1	1	2	2	2	1	1	1	3	4	1	1	3	4			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:235969554G>C	ENST00000389794.3	-	6	3056	c.2882C>G	c.(2881-2883)gCa>gGa	p.A961G	LYST_ENST00000389793.2_Missense_Mutation_p.A961G|LYST_ENST00000536965.1_Missense_Mutation_p.A961G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	961					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCAAATGTCTGCTGCTTGGTG	0.448													33	105					0	0	0	0	C	235969554	G	C	235969554	3	2	406	1	0	0	0	0	1	0	0	0	9193	1319	46	4	8715	4	LYST	1	235969554	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	34774406	235969554	13281067	6	77519											
MYT1L	23040	broad.mit.edu	37	chr2	1947087	1947087	+	Frame_Shift_Del	DEL	C	C	-																															ttgtgtttttctttttttcgCcaagggacaaccatatacac																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:1947087delC	ENST00000399161.2	-	9	919	c.172delG	c.(172-174)cgfs	p.A58fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.A58fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	58					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTTTTTCGCCAAGGGACAA	0.408													2	4	---	---	---	---					-	1947087	C	-	1947087	7	5	406	1	0	1	0	1	0	0	0	0	10177	739	26	0	3450	0	MYT1L	2	1947087	Frame_Shift_Del	DEL	C	TCGA-F7-A622-01A-11D-A28R-08		1947087	241252286	7	77520											
COLEC11	78989	broad.mit.edu	37	chr2	3691474	3691474	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggccgcatacctggcGcaagccggcctggcccgtgt	5	7	14	15	4	0	1	0	1	0	0	0	1	0	1	5	4	2	2	5	4	2	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:3691474G>T	ENST00000403096.3	+	6	995	c.504G>T	c.(502-504)gcG>gcT	p.A168A	COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.A208A|COLEC11_ENST00000404205.1_Silent_p.A120A|COLEC11_ENST00000402794.1_Silent_p.A144A|COLEC11_ENST00000402922.1_Silent_p.A144A|COLEC11_ENST00000349077.4_Silent_p.A194A|COLEC11_ENST00000382062.2_Silent_p.A170A|COLEC11_ENST00000236693.7_Silent_p.A191A	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	194	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CATACCTGGCGCAAGCCGGCC	0.662													24	54					2.52088e-20	2.80097e-20	1	0	T	3691474	G	T	3691474	2	4	406	1	0	0	0	0	0	0	0	1	3741	1074	38	3		3	COLEC11	2	3691474	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	1744387	3691474	239507899	8	77521											
MSH6	2956	broad.mit.edu	37	chr2	48026064	48026064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctctcttaaaaggaaaagCtctaggaaggaaacgccctc	14	7	10	10	1	2	0	0	0	2	0	4	3	2	3	1	4	2	2	1	4	7	2	rs150440246	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:48026064C>G	ENST00000234420.4	+	4	1094	c.942C>G	c.(940-942)agC>agG	p.S314R	MSH6_ENST00000540021.1_Missense_Mutation_p.S184R|MSH6_ENST00000538136.1_Missense_Mutation_p.S12R|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	314					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGAAAAGCTCTAGGAAGG	0.463			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				85	223					0	0	0	0	G	48026064	C	G	48026064	3	3	406	1	0	0	0	0	1	0	0	0	9944	796	28	4	956	4	MSH6	2	48026064	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	44334590	48026064	195173309	9	77522											
WDR33	55339	broad.mit.edu	37	chr2	128466386	128466386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttggagagaagaggagcGttctctgctggctggggaat	8	9	17	7	1	1	2	0	0	1	2	2	6	1	5	1	5	2	3	1	5	2	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:128466386G>A	ENST00000322313.4	-	21	3804	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1216					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAAGAGGAGCGTTCTCTGCTG	0.567													21	89					0	0	0	0	A	128466386	G	A	128466386	3	1	406	1	0	0	0	0	1	0	0	0	17383	1145	40	1	372	1	WDR33	2	128466386	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	80440322	128466386	114732987	10	77523											
EVX2	344191	broad.mit.edu	37	chr2	176948135	176948135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgggggagcgaagcgCggagcagcccacctccacgt	7	2	15	17	5	0	0	0	0	0	0	1	3	1	2	5	3	4	1	5	3	1	0			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:176948135C>T	ENST00000308618.4	-	1	506	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GAGCGAAGCGCGGAGCAGCCC	0.672													9	26					0	0	0	0	T	176948135	C	T	176948135	3	4	406	1	0	0	0	0	1	0	0	0	5332	768	27	1	1070	1	EVX2	2	176948135	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	48481749	176948135	66251238	11	77524											
ANKRD44	91526	broad.mit.edu	37	chr2	197878278	197878279	+	Frame_Shift_Del	DEL	AA	AA	-																															ttggttacattgtctttcacAaagatggatgcgccctgatt																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:197878278_197878279delAA	ENST00000328737.2	-	18	1881_1882	c.1805_1806delTT	c.(1804-1806)tfs	p.F602fs	ANKRD44_ENST00000450567.1_Frame_Shift_Del_p.F602fs|ANKRD44_ENST00000282272.8_Frame_Shift_Del_p.F619fs|ANKRD44_ENST00000337207.5_Frame_Shift_Del_p.F602fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	627							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTCTTTCACAAAGATGGATGC	0.47													50	143	---	---	---	---					-	197878279	AA	-	197878278	7	5	406	1	0	1	0	1	0	0	0	0	671	127	5	0	989	0	ANKRD44	2	197878278	Frame_Shift_Del	DEL	AA	TCGA-F7-A622-01A-11D-A28R-08	20930143	197878278	45321095	12	77525											
TGFBR2	7048	broad.mit.edu	37	chr3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccacgacccagaggccCgtctcacagcccagtgtgtg	8	5	13	15	2	1	1	1	0	1	1	2	3	1	2	4	2	1	0	4	2	0	0	rs104893810		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597													28	36					0	0	0	0	T	30732969	C	T	30732969	3	4	406	1	0	0	0	0	1	0	0	0	15916	652	23	1	1687	1	TGFBR2	3	30732969	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08		30732969	167289461	13	77526											
CPOX	1371	broad.mit.edu	37	chr3	98243852	98243853	+	RNA	DEL	TT	TT	-																															taagcttagtgagaacagtcTttttttttttttttttttgt																								rs148870367		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:98243852_98243853delTT	ENST00000502999.1	+	0	264																											GAGAACAGTCTTTTTTTTTTTT	0.347													4	2	---	---	---	---					-	98243853	TT	-	98243852	6	5	406	0	1	1	0	1	0	0	0	0	3851	1624	56	0		0	CPOX	3	98243852	RNA	DEL	TT	TCGA-F7-A622-01A-11D-A28R-08	67510883	98243852	99778578	14	77527											
GPR156	165829	broad.mit.edu	37	chr3	119887190	119887190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaatcttctctttggcGttgtttacttgttcctgcag	5	18	7	11	1	3	0	1	0	2	0	5	0	4	0	1	1	2	4	1	1	2	7			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:119887190G>A	ENST00000464295.1	-	10	1579	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	GPR156_ENST00000315843.3_Silent_p.N378N|GPR156_ENST00000461057.1_Silent_p.N374N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	378						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCTCTTTGGCGTTGTTTACTT	0.507													24	63					0	0	0	0	A	119887190	G	A	119887190	2	1	406	1	0	0	0	0	0	0	0	1	6710	1136	40	1		1	GPR156	3	119887190	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	21643338	119887190	78135240	15	77528											
RHO	6010	broad.mit.edu	37	chr3	129251468	129251468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtcatcgctttcctgatCtgctgggtgccctacgccag	5	12	11	13	2	2	1	1	1	1	0	4	1	3	1	3	2	3	2	3	2	1	2	rs121918590		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:129251468C>T	ENST00000296271.3	+	4	883	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	263					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CTTTCCTGATCTGCTGGGTGC	0.582													30	35					0	0	0	0	T	129251468	C	T	129251468	2	4	406	1	0	0	0	0	0	0	0	1	13413	903	32	2		2	RHO	3	129251468	Silent	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	9364278	129251468	68770962	16	77529											
BCHE	590	broad.mit.edu	37	chr3	165548003	165548003	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccagtcaatttagctaaGttcaacgttctgttcctagc	11	13	6	11	1	3	0	2	0	1	0	4	0	4	0	2	0	4	4	2	0	6	7			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:165548003G>A	ENST00000264381.3	-	2	985	c.819C>T	c.(817-819)aaC>aaT	p.N273N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	273					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATTTAGCTAAGTTCAACGTTC	0.393													62	53					0	0	0	0	A	165548003	G	A	165548003	2	1	406	1	0	0	0	0	0	0	0	1	1362	1020	36	4		4	BCHE	3	165548003	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	36296535	165548003	32474427	17	77530											
HTR3C	170572	broad.mit.edu	37	chr3	183777668	183777668	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcagcctgctggagacCgtcttcattacctacctgct	6	12	10	13	1	3	1	2	0	1	1	3	2	3	1	4	2	5	2	4	2	2	3			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:183777668C>T	ENST00000318351.1	+	8	1012	c.978C>T	c.(976-978)acC>acT	p.T326T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	326						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCTGGAGACCGTCTTCATTA	0.562													32	140					0	0	0	0	T	183777668	C	T	183777668	2	4	406	1	0	0	0	0	0	0	0	1	7499	639	23	1		1	HTR3C	3	183777668	Silent	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	18229665	183777668	14244762	18	77531											
DNAJB11	51726	broad.mit.edu	37	chr3	186289886	186289886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccctctacttcccagacGagatttctataagatcttgg	9	14	6	12	1	4	3	0	0	4	3	6	4	5	3	2	1	1	0	2	1	3	6			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:186289886G>A	ENST00000439351.1	+	3	1000	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R24Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	24					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTTCCCAGACGAGATTTCTAT	0.388													5	95					0	0	0	0	A	186289886	G	A	186289886	3	1	406	1	0	0	0	0	1	0	0	0	4652	1058	37	1	77	1	DNAJB11	3	186289886	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	2512218	186289886	11732544	19	77532											
FAM193A	8603	broad.mit.edu	37	chr4	2632856	2632856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagtacggcgccctctGccaggccgcacgctccatca	7	6	12	16	4	2	1	1	1	1	0	3	2	3	2	4	3	2	3	4	3	1	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:2632856G>C	ENST00000324666.5	+	3	476	c.125G>C	c.(124-126)tGc>tCc	p.C42S	FAM193A_ENST00000382839.3_Missense_Mutation_p.C42S|FAM193A_ENST00000545951.1_Missense_Mutation_p.C42S|FAM193A_ENST00000502458.1_Missense_Mutation_p.C42S|FAM193A_ENST00000505311.1_Missense_Mutation_p.C42S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	42										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGCGCCCTCTGCCAGGCCGCA	0.587													15	86					0	0	0	0	C	2632856	G	C	2632856	3	2	406	1	0	0	0	0	1	0	0	0	5567	1319	46	4	127	4	FAM193A	4	2632856	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08		2632856	188521420	20	77533											
REST	5978	broad.mit.edu	37	chr4	57777618	57777618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatttaagaaaccattttCcaaggaaagtatacacatgt	18	11	5	7	0	0	1	0	0	0	1	1	2	1	2	2	1	3	1	2	1	7	6			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:57777618C>A	ENST00000309042.7	+	2	1128	c.814C>A	c.(814-816)Cca>Aca	p.P272T	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	272					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAACCATTTTCCAAGGAAAGT	0.378													13	35					9.31168e-06	9.85943e-06	1	0	A	57777618	C	A	57777618	3	1	406	1	0	0	0	0	1	0	0	0	13316	855	30	2	816	2	REST	4	57777618	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	55144762	57777618	133376658	21	77534											
C4orf22	255119	broad.mit.edu	37	chr4	81504291	81504291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacaagataattttctgaCggccctggcaatgagagaag	13	9	10	9	1	1	4	0	2	1	2	1	5	1	4	2	2	1	1	2	2	5	4	rs142731425	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:81504291C>T	ENST00000358105.3	+	3	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353													14	55					0	0	0	0	T	81504291	C	T	81504291	3	4	406	1	0	0	0	0	1	0	0	0	2276	536	19	1	297	1	C4orf22	4	81504291	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	23726673	81504291	109649985	22	77535											
ADH5	128	broad.mit.edu	37	chr4	99997692	99997692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagacggcacaaacagaGccaggctccaactaggagta	16	3	10	12	1	0	2	0	0	0	2	1	3	1	3	3	3	3	3	3	3	5	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:99997692G>A	ENST00000296412.8	-	6	626	c.576C>T	c.(574-576)ggC>ggT	p.G192G	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	192					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CACAAACAGAGCCAGGCTCCA	0.453													24	30					0	0	0	0	A	99997692	G	A	99997692	2	1	406	1	0	0	0	0	0	0	0	1	311	958	34	4		4	ADH5	4	99997692	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	18493401	99997692	91156584	23	77536											
FBXW7	55294	broad.mit.edu	37	chr4	153249517	153249526	+	Frame_Shift_Del	DEL	TATGTCCCAC	TATGTCCCAC	-																															tgatgaccatactccacctgTatgtcccactaatgttctca																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:153249517_153249526delTATGTCCCAC	ENST00000281708.4	-	9	2481_2490	c.1252_1261delGTGGGACATA	c.(1252-1263)cafs	p.VGHT418fs	FBXW7_ENST00000296555.5_Frame_Shift_Del_p.VGHT300fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.VGHT242fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.VGHT338fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.VGHT418fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.VGHT418fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	418					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.H420Y(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCACCTGTATGTCCCACTAATGTTCTC	0.357			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								73	55	---	---	---	---					-	153249526	TATGTCCCAC	-	153249517	7	5	406	1	0	1	0	1	0	0	0	0	5814	1638	57	0	878	0	FBXW7	4	153249517	Frame_Shift_Del	DEL	TATGTCCCAC	TCGA-F7-A622-01A-11D-A28R-08	53251825	153249517	37904759	24	77537											
FAT1	2195	broad.mit.edu	37	chr4	187630162	187630163	+	Frame_Shift_Ins	INS	-	-	A																															tcatccactgtcacaattgcINSatatgctgggtccctgtcca																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:187630162_187630163insA	ENST00000441802.2	-	2	1028_1029	c.819_820insT	c.(817-822)tacaatfs	p.N274fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	274					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCACAATTGCATATGCTGGGT	0.505										HNSCC(5;0.00058)			200	129	---	---	---	---					A	187630163	-	A	187630162	7	5	406	1	0	1	1	0	0	0	0	0	5734	710	25	0	13050	0	FAT1	4	187630162	Frame_Shift_Ins	INS	-	TCGA-F7-A622-01A-11D-A28R-08	34380645	187630162	3524114	25	77538											
MCC	4163	broad.mit.edu	37	chr5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgccgctgccgcCgccgccgccgccgctgctgg	0	6	15	20	7	0	0	0	0	0	0	0	0	0	0	7	1	5	6	7	1	0	0			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	548					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756													4	1					0	0	0	0	T	112824054	C	T	112824054	3	4	406	1	0	0	0	0	1	0	0	0	9442	652	23	1	3138	1	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08		112824054	68091206	26	77539											
PCDHB8	56128	broad.mit.edu	37	chr5	140558090	140558090	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcctctgaagaatgctGaagacttagatataggccaa	13	11	9	8	1	1	5	0	2	1	3	2	5	2	5	2	1	1	2	2	1	7	4			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr5:140558090G>T	ENST00000239444.2	+	1	720	c.475G>T	c.(475-477)Gaa>Taa	p.E159*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		159	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAATGCTGAAGACTTAGA	0.438													24	469					7.92952e-12	8.49592e-12	1	0	T	140558090	G	T	140558090	4	4	406	1	0	0	0	0	0	1	0	0	11619	1291	45	2	477	2	PCDHB8	5	140558090	Nonsense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	27734036	140558090	40357170	27	77540											
PDGFRB	5159	broad.mit.edu	37	chr5	149506164	149506164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgagatcaccaccacCttaaagggcaaggctggagg	12	6	13	10	0	1	1	1	1	0	1	1	3	1	2	3	5	0	3	3	5	3	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr5:149506164C>T	ENST00000261799.4	-	11	2062	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	531					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCACCACCACCTTAAAGGGCA	0.572			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								26	17					0	0	0	0	T	149506164	C	T	149506164	2	4	406	1	0	0	0	0	0	0	0	1	11733	680	24	4		4	PDGFRB	5	149506164	Silent	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	8948074	149506164	31409096	28	77541											
SPATS1	221409	broad.mit.edu	37	chr6	44337830	44337830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacatttattccacttgaGcctcttccacaaattcccaa	12	13	3	13	0	1	1	0	1	1	0	4	2	4	1	4	0	2	0	4	0	4	7			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr6:44337830G>A	ENST00000288390.2	+	6	1085	c.738G>A	c.(736-738)gaG>gaA	p.E246E	SPATS1_ENST00000323108.8_Silent_p.E246E			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	246										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCACTTGAGCCTCTTCCAC	0.343													15	47					0	0	0	0	A	44337830	G	A	44337830	2	1	406	1	0	0	0	0	0	0	0	1	15108	962	34	4		4	SPATS1	6	44337830	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08		44337830	126777237	29	77542											
SHPRH	257218	broad.mit.edu	37	chr6	146273490	146273490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactgtaaatattacctggaAtaatagaattgtgtaacttt	15	16	6	4	0	0	1	0	0	0	1	0	2	0	2	1	1	3	2	1	1	10	9			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr6:146273490A>G	ENST00000367503.3	-	3	1156	c.758T>C	c.(757-759)aTt>aCt	p.I253T	SHPRH_ENST00000275233.7_Missense_Mutation_p.I253T|SHPRH_ENST00000438092.2_Missense_Mutation_p.I253T|SHPRH_ENST00000367505.2_Missense_Mutation_p.I253T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	253					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATTACCTGGAATAATAGAATT	0.323													6	7					0	0	0	0	G	146273490	A	G	146273490	3	3	406	1	0	0	0	0	1	0	0	0	14379	101	4	5	4449	5	SHPRH	6	146273490	Missense_Mutation	SNP	A	TCGA-F7-A622-01A-11D-A28R-08	101935660	146273490	24841577	30	77543											
ADHFE1	137872	broad.mit.edu	37	chr8	67361106	67361106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttatgttttaggcatcaCttcgagagccatcaaaccca	11	12	6	12	1	2	1	2	0	0	1	4	2	3	1	3	1	2	2	3	1	3	4	rs61743396		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr8:67361106C>G	ENST00000396623.3	+	8	666	c.635C>G	c.(634-636)aCt>aGt	p.T212S	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T212S|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T164S	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	212					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTAGGCATCACTTCGAGAGCC	0.443													46	176					0	0	0	0	G	67361106	C	G	67361106	3	3	406	1	0	0	0	0	1	0	0	0	314	565	20	4	665	4	ADHFE1	8	67361106	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08		67361106	79002916	31	77544											
MMP16	4325	broad.mit.edu	37	chr8	89128881	89128881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttccttgggtcagccggaGgaatagagcggtgtgggggc	6	10	18	7	2	1	1	1	0	0	1	2	3	2	3	2	6	2	0	2	6	2	4			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr8:89128881G>T	ENST00000286614.6	-	6	1219	c.938C>A	c.(937-939)cCt>cAt	p.P313H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	313					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTCAGCCGGAGGAATAGAGCG	0.547													23	137					1.64293e-13	1.78149e-13	1	0	T	89128881	G	T	89128881	3	4	406	1	0	0	0	0	1	0	0	0	9724	1000	35	4	1061	4	MMP16	8	89128881	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	21767775	89128881	57235141	32	77545											
ARHGAP39	80728	broad.mit.edu	37	chr8	145756232	145756232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggctcctccagctcccGgtaccacagcttcagcaggg	7	6	12	16	1	1	0	1	0	0	0	4	0	4	0	4	4	4	5	4	4	1	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr8:145756232G>A	ENST00000276826.5	-	9	3112	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1002W|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R971W			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	971	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCCAGCTCCCGGTACCACAGC	0.711													11	64					0	0	0	0	A	145756232	G	A	145756232	3	1	406	1	0	0	0	0	1	0	0	0	886	1115	39	1	348	1	ARHGAP39	8	145756232	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	56627351	145756232	607790	33	77546											
CDC37L1	55664	broad.mit.edu	37	chr9	4697876	4697876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttatttttccagaaagcCaaagtaagtagttatttgat	13	16	7	5	1	0	2	0	1	0	1	1	2	1	2	2	0	1	4	2	0	6	8			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr9:4697876C>T	ENST00000381854.3	+	5	946	c.744C>T	c.(742-744)gcC>gcT	p.A248A	CDC37L1_ENST00000381858.1_Silent_p.A248A	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	248	Self-association and interaction with Hsp90.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TCCAGAAAGCCAAAGTAAGTA	0.373													30	20					0	0	0	0	T	4697876	C	T	4697876	2	4	406	1	0	0	0	0	0	0	0	1	3098	581	21	4		4	CDC37L1	9	4697876	Silent	SNP	C	TCGA-F7-A622-01A-11D-A28R-08		4697876	136515555	34	77547											
DAB2IP	153090	broad.mit.edu	37	chr9	124535130	124535130	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctccccacagatgggCaggccgctgcagctcagctg	7	6	12	16	2	1	1	1	0	0	1	3	1	3	1	4	2	3	5	4	2	0	0			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr9:124535130C>T	ENST00000408936.3	+	12	2505	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.Q747*|DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.Q651*			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	775					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CACAGATGGGCAGGCCGCTGC	0.741													17	15					0	0	0	0	T	124535130	C	T	124535130	4	4	406	1	0	0	0	0	0	1	0	0	4252	711	25	4	2285	4	DAB2IP	9	124535130	Nonsense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	119837254	124535130	16678301	35	77548											
NOTCH1	4851	broad.mit.edu	37	chr9	139413085	139413085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagaaggaggccacacGgtcatggcaggtggcgccgt	9	5	17	10	3	1	1	1	0	0	1	1	2	1	2	2	6	0	3	2	6	2	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr9:139413085G>A	ENST00000277541.6	-	6	1132	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R353C(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGGCCACACGGTCATGGCAG	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	35					0	0	0	0	A	139413085	G	A	139413085	3	1	406	1	0	0	0	0	1	0	0	0	10617	1116	39	1	6726	1	NOTCH1	9	139413085	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	14877955	139413085	1800346	36	77549											
CCDC7	221016	broad.mit.edu	37	chr10	32760080	32760080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagaaatagtaaggcttgTacaaagatttgaagaactga	17	10	10	4	0	0	5	0	2	0	3	0	5	0	5	0	1	3	4	0	1	7	5			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr10:32760080T>C	ENST00000362006.5	+	7	1142	c.599T>C	c.(598-600)gTa>gCa	p.V200A	CCDC7_ENST00000537047.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.V200A|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000535327.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	200										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTAAGGCTTGTACAAAGATTT	0.313													8	17					0	0	0	0	C	32760080	T	C	32760080	3	2	406	1	0	0	0	0	1	0	0	0	2869	1638	57	5	621	5	CCDC7	10	32760080	Missense_Mutation	SNP	T	TCGA-F7-A622-01A-11D-A28R-08		32760080	102774667	37	77550											
ANO9	338440	broad.mit.edu	37	chr11	418799	418799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgtaatcggggggattgCggtagtccctgtatctgggg	6	12	17	6	2	1	0	0	0	1	0	3	1	2	1	1	6	1	4	1	6	3	5			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:418799C>T	ENST00000332826.6	-	22	2135	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	684						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGGGGGATTGCGGTAGTCCCT	0.577													47	133					0	0	0	0	T	418799	C	T	418799	3	4	406	1	0	0	0	0	1	0	0	0	703	768	27	1	305	1	ANO9	11	418799	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08		418799	134587717	38	77551											
FAR1	84188	broad.mit.edu	37	chr11	13721993	13721993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatcatagattctaccaatAttatattccactgtgcagct	12	15	5	9	0	2	2	1	1	1	1	3	2	3	2	2	0	3	2	2	0	6	7			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:13721993A>G	ENST00000354817.3	+	3	463	c.319A>G	c.(319-321)Att>Gtt	p.I107V		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	107					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TTCTACCAATATTATATTCCA	0.303													17	44					0	0	0	0	G	13721993	A	G	13721993	3	3	406	1	0	0	0	0	1	0	0	0	5719	449	16	5	325	5	FAR1	11	13721993	Missense_Mutation	SNP	A	TCGA-F7-A622-01A-11D-A28R-08	13303194	13721993	121284523	39	77552											
FANCF	2188	broad.mit.edu	37	chr11	22647101	22647101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacgtcacagtgaccgaGggcctggaagttcgctaatc	10	7	13	11	3	1	1	1	1	0	0	3	4	1	3	2	3	0	2	2	3	2	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:22647101G>A	ENST00000327470.3	-	1	286	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	AC103801.2_ENST00000428556.2_Silent_p.E15E	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	86					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CAGTGACCGAGGGCCTGGAAG	0.662			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				65	134					0	0	0	0	A	22647101	G	A	22647101	3	1	406	1	0	0	0	0	1	0	0	0	5712	1000	35	4	872	4	FANCF	11	22647101	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	8925108	22647101	112359415	40	77553											
DDB1	1642	broad.mit.edu	37	chr11	61070124	61070124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctcacccagattctgCattaccagagagccgtggca	11	8	10	12	1	2	2	1	0	2	2	3	4	2	2	3	1	3	2	3	1	2	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:61070124C>A	ENST00000301764.7	-	24	3439	c.3042G>T	c.(3040-3042)atG>atT	p.M1014I	DDB1_ENST00000538470.1_Missense_Mutation_p.M61I|DDB1_ENST00000451943.2_Start_Codon_SNP_p.M1I|DDB1_ENST00000450997.2_Missense_Mutation_p.M325I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1014	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGATTCTGCATTACCAGAG	0.597								Nucleotide excision repair (NER)					157	124					2.75688e-47	3.18101e-47	1	0	A	61070124	C	A	61070124	3	1	406	1	0	0	0	0	1	0	0	0	4355	710	25	4	396	4	DDB1	11	61070124	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	38423023	61070124	73936392	41	77554											
SPTBN2	6712	broad.mit.edu	37	chr11	66483306	66483306	+	Frame_Shift_Del	DEL	T	T	-																															atgaccacagctcaccagtaTctctcccgagagcacctcga																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:66483306delT	ENST00000533211.1	-	4	635	c.304delA	c.(304-306)tafs	p.I102fs	SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.I102fs|SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.I102fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	102	Actin-binding.|CH 1.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCACCAGTATCTCTCCCGAG	0.637													8	38	---	---	---	---					-	66483306	T	-	66483306	7	5	406	1	0	1	0	1	0	0	0	0	15210	1435	50	0	7008	0	SPTBN2	11	66483306	Frame_Shift_Del	DEL	T	TCGA-F7-A622-01A-11D-A28R-08	5413182	66483306	68523210	42	77555											
FAT3	120114	broad.mit.edu	37	chr11	92533084	92533084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actatcagaagcatctcttaTtgggacacctgttttacaag	12	13	7	9	0	2	1	1	0	1	1	3	2	2	2	1	1	2	2	1	1	5	5			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:92533084T>C	ENST00000298047.6	+	9	6922	c.6905T>C	c.(6904-6906)aTt>aCt	p.I2302T	FAT3_ENST00000409404.2_Missense_Mutation_p.I2302T|FAT3_ENST00000525166.1_Missense_Mutation_p.I2152T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2302	Cadherin 21.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCTCTTATTGGGACACCT	0.378										TCGA Ovarian(4;0.039)			15	20					0	0	0	0	C	92533084	T	C	92533084	3	2	406	1	0	0	0	0	1	0	0	0	5736	1493	52	5	6939	5	FAT3	11	92533084	Missense_Mutation	SNP	T	TCGA-F7-A622-01A-11D-A28R-08	26049778	92533084	42473432	43	77556											
DSCAML1	57453	broad.mit.edu	37	chr11	117391933	117391933	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaatggctcttctgggcCgaggtgatgagcagcgtctc	6	9	15	11	3	3	2	0	2	3	0	4	4	3	3	2	4	2	2	2	4	1	1	rs147591517		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:117391933C>T	ENST00000321322.6	-	6	1306	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S	DSCAML1_ENST00000527706.1_Silent_p.S165S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	375	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTGGGCCGAGGTGATGA	0.632													66	211					0	0	0	0	T	117391933	C	T	117391933	2	4	406	1	0	0	0	0	0	0	0	1	4805	639	23	1		1	DSCAML1	11	117391933	Silent	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	24858849	117391933	17614583	44	77557											
FOXR1	283150	broad.mit.edu	37	chr11	118851366	118851366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgaggagggacaccgcCgctttgcggaggaggcccgc	7	4	17	13	5	0	1	0	1	0	0	0	6	0	5	4	5	1	1	4	5	0	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:118851366C>T	ENST00000317011.3	+	5	1003	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	260					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGGACACCGCCGCTTTGCGGA	0.602													39	102					0	0	0	0	T	118851366	C	T	118851366	3	4	406	1	0	0	0	0	1	0	0	0	6078	652	23	1	796	1	FOXR1	11	118851366	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	1459433	118851366	16155150	45	77558											
PLEKHG6	55200	broad.mit.edu	37	chr12	6436582	6436583	+	In_Frame_Ins	INS	-	-	GCC																															tgagccgtctacgccaaagaINSgcccttcggcgggaccctcg																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:6436582_6436583insGCC	ENST00000449001.2	+	14	2231_2232	c.1737_1738insGCC	c.(1735-1740)agccct>agGCCccct	p.579_579S>RP	PLEKHG6_ENST00000011684.7_In_Frame_Ins_p.611_611S>RP|PLEKHG6_ENST00000396988.3_In_Frame_Ins_p.611_611S>RP|PLEKHG6_ENST00000304581.8_In_Frame_Ins_p.141_141S>RP	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	611					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TACGCCAAAGAGCCCTTCGGCG	0.658													79	178	---	---	---	---					GCC	6436583	-	GCC	6436582	7	5	406	1	0	1	1	0	0	0	0	0	12146	301	11	0	1933	0	PLEKHG6	12	6436582	In_Frame_Ins	INS	-	TCGA-F7-A622-01A-11D-A28R-08		6436582	127415313	46	77559											
GUCY2C	2984	broad.mit.edu	37	chr12	14827630	14827630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctccattttcaagaaatAtcttcagcatatgtccaaag	13	15	4	9	0	4	1	2	0	2	1	6	1	5	1	2	0	1	1	2	0	5	6			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:14827630A>G	ENST00000261170.3	-	8	1149	c.1013T>C	c.(1012-1014)aTa>aCa	p.I338T	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	338					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTCAAGAAATATCTTCAGCAT	0.368													41	72					0	0	0	0	G	14827630	A	G	14827630	3	3	406	1	0	0	0	0	1	0	0	0	6946	449	16	5	2288	5	GUCY2C	12	14827630	Missense_Mutation	SNP	A	TCGA-F7-A622-01A-11D-A28R-08	8391048	14827630	119024265	47	77560											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518261	85518261	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgacaaattctttgcTgaggaatcaccaaaatattg	16	12	7	6	0	2	2	1	2	1	0	2	3	2	3	1	1	1	2	1	1	6	5			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:85518261T>G	ENST00000393217.2	+	17	4032	c.3971T>G	c.(3970-3972)cTg>cGg	p.L1324R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1324										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTCTTTGCTGAGGAATCAC	0.318													8	219					0	0	0	0	G	85518261	T	G	85518261	3	3	406	1	0	0	0	0	1	0	0	0	9093	1580	55	5	4033	5	LRRIQ1	12	85518261	Missense_Mutation	SNP	T	TCGA-F7-A622-01A-11D-A28R-08	70690631	85518261	48333634	48	77561											
KSR2	283455	broad.mit.edu	37	chr12	117962852	117962852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtacacttgcccaaagcggCcctttccaatgagctcgccg	8	8	10	15	3	0	1	0	1	0	0	2	1	1	1	4	2	4	2	4	2	3	3			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:117962852C>T	ENST00000425217.1	-	14	1991	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D	KSR2_ENST00000302438.5_Missense_Mutation_p.G372D|KSR2_ENST00000339824.5_Missense_Mutation_p.G675D|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	675					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCAAAGCGGCCCTTTCCAAT	0.612													21	42					0	0	0	0	T	117962852	C	T	117962852	3	4	406	1	0	0	0	0	1	0	0	0	8635	739	26	4	856	4	KSR2	12	117962852	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	32444591	117962852	15889043	49	77562											
EP400	57634	broad.mit.edu	37	chr12	132446488	132446488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagaaaaatctgaggttAtcaatgacgaggtaagaaac	19	7	11	4	1	2	4	1	2	1	2	2	6	2	5	0	3	1	2	0	3	7	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:132446488A>G	ENST00000333577.4	+	2	1433	c.1324A>G	c.(1324-1326)Atc>Gtc	p.I442V	EP400_ENST00000330386.6_Missense_Mutation_p.I442V|EP400_ENST00000389561.2_Missense_Mutation_p.I442V|EP400_ENST00000389562.2_Missense_Mutation_p.I442V|EP400_ENST00000332482.4_Missense_Mutation_p.I442V			Q96L91	EP400_HUMAN	E1A binding protein p400	442					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATCTGAGGTTATCAATGACGA	0.368													12	23					0	0	0	0	G	132446488	A	G	132446488	3	3	406	1	0	0	0	0	1	0	0	0	5187	449	16	5	1326	5	EP400	12	132446488	Missense_Mutation	SNP	A	TCGA-F7-A622-01A-11D-A28R-08	14483636	132446488	1405407	50	77563											
FRY	10129	broad.mit.edu	37	chr13	32812053	32812053	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaccaccacagacctGaccctgcagctcttcagtct	8	9	5	19	0	4	2	2	1	2	1	5	2	5	2	5	0	2	2	5	0	0	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr13:32812053G>T	ENST00000380250.3	+	44	6844	c.6348G>T	c.(6346-6348)ctG>ctT	p.L2116L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		CCACAGACCTGACCCTGCAGC	0.542													43	86					9.39024e-22	1.0564e-21	1	0	T	32812053	G	T	32812053	2	4	406	1	0	0	0	0	0	0	0	1	6111	1277	45	2		2	FRY	13	32812053	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08		32812053	82357825	51	77564											
OR4N2	390429	broad.mit.edu	37	chr14	20296135	20296135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaaaccagctggacaaCttcttctgtgatgtcccaca	10	9	8	14	0	2	1	0	1	2	0	3	2	3	2	3	2	3	1	3	2	2	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:20296135C>A	ENST00000315947.1	+	1	528	c.528C>A	c.(526-528)aaC>aaA	p.N176K	OR4N2_ENST00000568211.1_Missense_Mutation_p.N176K	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTGGACAACTTCTTCTGTG	0.527													50	163					3.10996e-30	3.543e-30	1	0	A	20296135	C	A	20296135	3	1	406	1	0	0	0	0	1	0	0	0	11148	564	20	4	530	4	OR4N2	14	20296135	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08		20296135	87053405	52	77565											
SUPT16H	11198	broad.mit.edu	37	chr14	21837411	21837411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccaccactctgaatgataGgagggtaacacatttccaca	13	9	8	11	0	1	2	0	2	1	0	2	3	2	3	3	2	2	1	3	2	3	3			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:21837411G>A	ENST00000216297.2	-	6	1072	c.734C>T	c.(733-735)cCt>cTt	p.P245L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	245					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTGAATGATAGGAGGGTAACA	0.408													23	47					0	0	0	0	A	21837411	G	A	21837411	3	1	406	1	0	0	0	0	1	0	0	0	15486	1000	35	4	2493	4	SUPT16H	14	21837411	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	1541276	21837411	85512129	53	77566											
GPR68	8111	broad.mit.edu	37	chr14	91701363	91701363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtcgatggtacagctcAtcgaggagttgtctgcagtg	8	12	14	7	2	2	0	1	0	1	0	4	3	2	1	0	3	3	4	0	3	2	3			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:91701363A>G	ENST00000535815.1	-	2	372	c.32T>C	c.(31-33)aTg>aCg	p.M11T	GPR68_ENST00000238699.3_Missense_Mutation_p.M21T|GPR68_ENST00000531499.2_Missense_Mutation_p.M11T	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	11					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GGTACAGCTCATCGAGGAGTT	0.612													20	47					0	0	0	0	G	91701363	A	G	91701363	3	3	406	1	0	0	0	0	1	0	0	0	6756	217	8	5	1069	5	GPR68	14	91701363	Missense_Mutation	SNP	A	TCGA-F7-A622-01A-11D-A28R-08	69863952	91701363	15648177	54	77567											
NDUFB1	4707	broad.mit.edu	37	chr14	92583984	92583984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaagtaagttcaccatgaTagctaaaagaaaaaaaaatt	21	9	6	5	0	1	3	1	2	0	1	1	3	1	3	1	0	1	3	1	0	9	5			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:92583984T>C	ENST00000329559.3	-	2	278	c.139A>G	c.(139-141)Atc>Gtc	p.I47V	NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000555441.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	TTCACCATGATAGCTAAAAGA	0.378													16	27					0	0	0	0	C	92583984	T	C	92583984	3	2	406	1	0	0	0	0	1	0	0	0	10348	1406	49	5	186	5	NDUFB1	14	92583984	Missense_Mutation	SNP	T	TCGA-F7-A622-01A-11D-A28R-08	882621	92583984	14765556	55	77568											
BTBD7	55727	broad.mit.edu	37	chr14	93760714	93760714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actaagctgaacaaggatatCgacattttgaaaccttgagt	15	11	8	7	1	0	3	0	3	0	0	1	5	0	4	1	1	3	1	1	1	5	5			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:93760714C>T	ENST00000334746.5	-	3	959	c.652G>A	c.(652-654)Gat>Aat	p.D218N	BTBD7_ENST00000555525.1_Missense_Mutation_p.D218N|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.D218N	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	218										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACAAGGATATCGACATTTTGA	0.383													18	33					0	0	0	0	T	93760714	C	T	93760714	3	4	406	1	0	0	0	0	1	0	0	0	1555	884	31	1	2857	1	BTBD7	14	93760714	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	1176730	93760714	13588826	56	77569											
NOX5	79400	broad.mit.edu	37	chr15	69348934	69348934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggctgctgagaagaaGggcaaggtgcaggtcttctt	11	9	15	6	0	2	2	0	1	2	2	2	3	2	2	0	4	2	4	0	4	4	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr15:69348934G>C	ENST00000260364.5	+	17	2443	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	NOX5_ENST00000388866.3_Missense_Mutation_p.K732N|NOX5_ENST00000530406.2_Missense_Mutation_p.K704N|NOX5_ENST00000455873.3_Missense_Mutation_p.K697N|NOX5_ENST00000448182.3_Missense_Mutation_p.K686N			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	732					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGAGAAGAAGGGCAAGGTGC	0.527													41	53					0	0	0	0	C	69348934	G	C	69348934	3	2	406	1	0	0	0	0	1	0	0	0	10629	991	35	4	2291	4	NOX5	15	69348934	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08		69348934	33182458	57	77570											
RASGRF1	5923	broad.mit.edu	37	chr15	79307681	79307681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacttacttgatcatctgcGgcacagtgaccttggaattt	9	13	9	10	1	2	2	1	2	1	0	2	3	2	3	1	2	2	2	1	2	2	4			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr15:79307681G>A	ENST00000419573.3	-	13	2088	c.1814C>T	c.(1813-1815)cCg>cTg	p.P605L	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P605L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	605					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATCATCTGCGGCACAGTGAC	0.517													47	18					0	0	0	0	A	79307681	G	A	79307681	3	1	406	1	0	0	0	0	1	0	0	0	13154	1116	39	1	2071	1	RASGRF1	15	79307681	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	9958747	79307681	23223711	58	77571											
CHD2	1106	broad.mit.edu	37	chr15	93499774	93499774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactctttattgtataaaaCtctgattgatttcaagtcca	12	17	5	7	0	3	3	1	3	2	0	4	3	4	3	1	0	1	1	1	0	5	7			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr15:93499774C>T	ENST00000394196.4	+	16	2963	c.1895C>T	c.(1894-1896)aCt>aTt	p.T632I	CHD2_ENST00000557381.1_Missense_Mutation_p.T632I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	632	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGTATAAAACTCTGATTGAT	0.443													4	77					0	0	0	0	T	93499774	C	T	93499774	3	4	406	1	0	0	0	0	1	0	0	0	3354	565	20	4	1957	4	CHD2	15	93499774	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	14192093	93499774	9031618	59	77572											
MCTP2	55784	broad.mit.edu	37	chr15	94841761	94841761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgcagggatctttccCaagagcagcagtagctcctt	9	10	9	13	0	1	1	0	0	1	1	4	2	4	2	3	1	4	5	3	1	2	3			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr15:94841761C>T	ENST00000357742.4	+	1	267	c.267C>T	c.(265-267)ccC>ccT	p.P89P	MCTP2_ENST00000543482.1_Silent_p.P89P|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.P89P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	89					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGATCTTTCCCAAGAGCAGCA	0.577													94	24					0	0	0	0	T	94841761	C	T	94841761	2	4	406	1	0	0	0	0	0	0	0	1	9470	581	21	4		4	MCTP2	15	94841761	Silent	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	1341987	94841761	7689631	60	77573											
NDE1	54820	broad.mit.edu	37	chr16	15758653	15758653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaatggaggactccggaaaGactttcagctccgaggagga	13	6	13	9	2	1	1	1	0	0	1	3	7	3	6	2	5	1	1	2	5	2	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr16:15758653G>C	ENST00000396355.1	+	3	844	c.18G>C	c.(16-18)aaG>aaC	p.K6N	NDE1_ENST00000342673.5_Missense_Mutation_p.K6N|NDE1_ENST00000396353.2_Missense_Mutation_p.K6N|NDE1_ENST00000396354.1_Missense_Mutation_p.K6N	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	6	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTCCGGAAAGACTTTCAGCT	0.453													33	178					0	0	0	0	C	15758653	G	C	15758653	3	2	406	1	0	0	0	0	1	0	0	0	10313	933	33	2	20	2	NDE1	16	15758653	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08		15758653	74596100	61	77574											
DNAH3	55567	broad.mit.edu	37	chr16	21156602	21156602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcaggtcctgggccatCaaggagtagttgttggcgat	8	11	14	8	1	2	0	2	0	0	0	3	2	3	1	2	4	1	4	2	4	2	4			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr16:21156602C>A	ENST00000261383.3	-	3	347	c.348G>T	c.(346-348)ttG>ttT	p.L116F	DNAH3_ENST00000415178.1_Missense_Mutation_p.L116F|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	116	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTGGGCCATCAAGGAGTAGT	0.572													4	37					0.00024832	0.00025987	1	0	A	21156602	C	A	21156602	3	1	406	1	0	0	0	0	1	0	0	0	4640	825	29	2	12241	2	DNAH3	16	21156602	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	5397949	21156602	69198151	62	77575											
ENO3	2027	broad.mit.edu	37	chr17	4858480	4858480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagccatgcgcattggCgccgaggtctaccaccacct	10	6	11	14	3	1	0	0	0	1	0	1	2	1	1	5	3	3	1	5	3	3	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:4858480C>T	ENST00000323997.6	+	7	687	c.555C>T	c.(553-555)ggC>ggT	p.G185G	ENO3_ENST00000518175.1_Silent_p.G185G|ENO3_ENST00000519584.1_Silent_p.G142G	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	185					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGCGCATTGGCGCCGAGGTCT	0.577													4	103					0	0	0	0	T	4858480	C	T	4858480	2	4	406	1	0	0	0	0	0	0	0	1	5161	755	27	1		1	ENO3	17	4858480	Silent	SNP	C	TCGA-F7-A622-01A-11D-A28R-08		4858480	76336730	63	77576											
MYH10	4628	broad.mit.edu	37	chr17	8393845	8393845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctctagggccCgtttggatttttcaagttcg	5	14	10	12	2	2	0	1	0	1	0	3	1	2	1	3	2	2	4	3	2	2	5			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:8393845C>T	ENST00000360416.3	-	35	4835	c.4697G>A	c.(4696-4698)cGg>cAg	p.R1566Q	MYH10_ENST00000396239.1_Missense_Mutation_p.R1556Q|MYH10_ENST00000269243.4_Missense_Mutation_p.R1535Q|MYH10_ENST00000379980.4_Missense_Mutation_p.R1551Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1535					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCTAGGGCCCGTTTGGATTT	0.522													4	94					0	0	0	0	T	8393845	C	T	8393845	3	4	406	1	0	0	0	0	1	0	0	0	10100	652	23	1	1362	1	MYH10	17	8393845	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	3535365	8393845	72801365	64	77577											
COL1A1	1277	broad.mit.edu	37	chr17	48267696	48267696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtactcacaggggggcCagcaaagccagcagggccgg	9	4	16	12	1	1	0	1	0	0	0	1	0	1	0	3	6	4	3	3	6	2	2	rs74315133		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:48267696C>A	ENST00000225964.5	-	35	2561	c.2443G>T	c.(2443-2445)Ggc>Tgc	p.G815C		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	815	Triple-helical region.		G -> V (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACAGGGGGGCCAGCAAAGCCA	0.607			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						31	56					3.11337e-16	3.41712e-16	1	0	A	48267696	C	A	48267696	3	1	406	1	0	0	0	0	1	0	0	0	3707	594	21	4	2019	4	COL1A1	17	48267696	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	39873851	48267696	32927514	65	77578											
ABCA9	10350	broad.mit.edu	37	chr17	67031890	67031890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattttacaataagagccaTtaaagtggccatgataagga	17	10	9	5	0	0	3	0	1	0	2	0	4	0	4	2	2	2	0	2	2	6	5			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:67031890T>C	ENST00000340001.4	-	7	1064	c.853A>G	c.(853-855)Atg>Gtg	p.M285V	ABCA9_ENST00000453985.2_Missense_Mutation_p.M285V|ABCA9_ENST00000370732.2_Missense_Mutation_p.M285V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	285					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATAAGAGCCATTAAAGTGGCC	0.433													16	29					0	0	0	0	C	67031890	T	C	67031890	3	2	406	1	0	0	0	0	1	0	0	0	39	1493	52	5	4153	5	ABCA9	17	67031890	Missense_Mutation	SNP	T	TCGA-F7-A622-01A-11D-A28R-08	18764194	67031890	14163320	66	77579											
ABCA6	23460	broad.mit.edu	37	chr17	67083559	67083559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtttgaatatcttcatCttcatctatgggttcttctg	6	21	6	8	0	8	1	2	1	6	0	8	1	8	1	0	1	0	2	0	1	3	8			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:67083559C>G	ENST00000284425.2	-	29	3928	c.3754G>C	c.(3754-3756)Gat>Cat	p.D1252H	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1252					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATATCTTCATCTTCATCTATG	0.373													4	118					0	0	0	0	G	67083559	C	G	67083559	3	3	406	1	0	0	0	0	1	0	0	0	36	913	32	2	1143	2	ABCA6	17	67083559	Missense_Mutation	SNP	C	TCGA-F7-A622-01A-11D-A28R-08	51669	67083559	14111651	67	77580											
DNAH17	8632	broad.mit.edu	37	chr17	76476820	76476820	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggttcatgcaggccacGtactgacaattatggatatc	10	11	12	8	1	1	1	1	1	0	0	2	2	1	2	1	4	2	3	1	4	4	4			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:76476820G>A	ENST00000389840.5	-	49	7780	c.7656C>T	c.(7654-7656)taC>taT	p.Y2552Y	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Silent_p.Y2561Y					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCAGGCCACGTACTGACAAT	0.517													7	25					0	0	0	0	A	76476820	G	A	76476820	2	1	406	1	0	0	0	0	0	0	0	1	4638	1140	40	1		1	DNAH17	17	76476820	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	9393261	76476820	4718390	68	77581											
CXXC1	30827	broad.mit.edu	37	chr18	47809071	47809071	+	Frame_Shift_Del	DEL	A	A	-																															tttgtcatggctgtgcgcacAttgcgctcctgctcaaacag																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr18:47809071delA	ENST00000285106.6	-	15	2577	c.1863delT	c.(1861-1863)aafs	p.N621fs	CXXC1_ENST00000589940.1_Frame_Shift_Del_p.M609fs|CXXC1_ENST00000412036.2_Frame_Shift_Del_p.N625fs	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	621					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTGTGCGCACATTGCGCTCCT	0.647													30	63	---	---	---	---					-	47809071	A	-	47809071	7	5	406	1	0	1	0	1	0	0	0	0	4129	214	8	0	111	0	CXXC1	18	47809071	Frame_Shift_Del	DEL	A	TCGA-F7-A622-01A-11D-A28R-08		47809071	30268177	69	77582											
FEM1A	55527	broad.mit.edu	37	chr19	4793061	4793061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccgttacaggggtgccGtgtacgccgactcgggcaat	8	8	13	12	5	0	0	0	0	0	0	2	1	1	0	3	3	3	3	3	3	3	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:4793061G>A	ENST00000269856.3	+	1	1334	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	399					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAGGGGTGCCGTGTACGCCGA	0.622													32	99					0	0	0	0	A	4793061	G	A	4793061	3	1	406	1	0	0	0	0	1	0	0	0	5854	1145	40	1	1197	1	FEM1A	19	4793061	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08		4793061	54335922	70	77583											
RAB3D	9545	broad.mit.edu	37	chr19	11446172	11446172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaggcacaacacgttcGtcctccaggtcacacttgtt	9	10	8	14	2	2	0	2	0	0	0	5	0	4	0	2	2	2	4	2	2	1	3	rs139194537	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:11446172G>A	ENST00000222120.3	-	4	683	c.423C>T	c.(421-423)gaC>gaT	p.D141D	RAB3D_ENST00000589655.1_Silent_p.D141D	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	141					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CAACACGTTCGTCCTCCAGGT	0.617													18	29					0	0	0	0	A	11446172	G	A	11446172	2	1	406	1	0	0	0	0	0	0	0	1	13016	1136	40	1		1	RAB3D	19	11446172	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	6653111	11446172	47682811	71	77584											
KIAA1683	80726	broad.mit.edu	37	chr19	18368905	18368909	+	Frame_Shift_Del	DEL	GTCCG	GTCCG	-																															tggccaccaaccacaccagcGtccgcggggccctggagtat																								rs61746499	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:18368905_18368909delGTCCG	ENST00000392413.3	-	4	3400_3404	c.3185_3189delCGGAC	c.(3184-3189)gfs	p.AD1062fs	KIAA1683_ENST00000600328.2_Frame_Shift_Del_p.AD875fs|KIAA1683_ENST00000600359.2_Frame_Shift_Del_p.AD829fs	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1076						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCACACCAGCGTCCGCGGGGCCCTG	0.639													17	81	---	---	---	---					-	18368909	GTCCG	-	18368905	7	5	406	1	0	1	0	1	0	0	0	0	8302	1136	40	0	918	0	KIAA1683	19	18368905	Frame_Shift_Del	DEL	GTCCG	TCGA-F7-A622-01A-11D-A28R-08	6922733	18368905	40760078	72	77585											
CEACAM20	125931	broad.mit.edu	37	chr19	45015427	45015427	+	RNA	DEL	T	T	-																															aacctctactcccagcctccTtttcaccccagcatgtgctg																										TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:45015427delT	ENST00000454753.1	-	0	1891							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CCCAGCCTCCTTTTCACCCCA	0.552													2	4	---	---	---	---					-	45015427	T	-	45015427	6	5	406	0	1	1	0	1	0	0	0	0	3220	1624	56	0		0	CEACAM20	19	45015427	RNA	DEL	T	TCGA-F7-A622-01A-11D-A28R-08	26646522	45015427	14113556	73	77586											
ZNF880	400713	broad.mit.edu	37	chr19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-																															ccagagtggaggccccataaTtttttttttttttaaacagg																								rs77187934		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													5	10	---	---	---	---					-	52877717	T	-	52877717	7	5	406	1	0	1	0	1	0	0	0	0	18290	1508	52	0		0	ZNF880	19	52877717	Frame_Shift_Del	DEL	T	TCGA-F7-A622-01A-11D-A28R-08	7862290	52877717	6251266	74	77587											
ZNF468	90333	broad.mit.edu	37	chr19	53344032	53344032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacaagggatgacatctgActgaaggtcttgccacactc	12	10	9	10	0	2	3	0	3	2	0	3	4	2	4	1	2	2	0	1	2	4	3			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:53344032A>T	ENST00000595646.1	-	4	1635	c.1515T>A	c.(1513-1515)agT>agA	p.S505R	ZNF468_ENST00000396409.4_Missense_Mutation_p.S452R|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.S452R|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATGACATCTGACTGAAGGTCT	0.443													56	118					0	0	0	0	T	53344032	A	T	53344032	3	4	406	1	0	0	0	0	1	0	0	0	18023	272	10	5	57	5	ZNF468	19	53344032	Missense_Mutation	SNP	A	TCGA-F7-A622-01A-11D-A28R-08	466315	53344032	5784951	75	77588											
NLRP12	91662	broad.mit.edu	37	chr19	54313428	54313428	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggaagatgttcatgttGaggaaggcagagacgtcttc	10	12	13	6	1	3	3	1	1	2	2	4	6	3	5	0	3	0	3	0	3	2	4			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:54313428G>C	ENST00000324134.6	-	3	1653	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	NLRP12_ENST00000535162.1_Silent_p.L495L|NLRP12_ENST00000391772.1_Silent_p.L495L|NLRP12_ENST00000391773.1_Silent_p.L495L|NLRP12_ENST00000391775.3_Silent_p.L495L|NLRP12_ENST00000354278.3_Silent_p.L495L|NLRP12_ENST00000351894.4_Silent_p.L495L|NLRP12_ENST00000345770.5_Silent_p.L495L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	495	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTTCATGTTGAGGAAGGCAG	0.502													6	144					0	0	0	0	C	54313428	G	C	54313428	2	2	406	1	0	0	0	0	0	0	0	1	10544	1277	45	2		2	NLRP12	19	54313428	Silent	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	969396	54313428	4815555	76	77589											
LILRB3	11025	broad.mit.edu	37	chr19	54723046	54723046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcggaggaggaggaagaGgaggaggaagagcagcagga	15	1	21	4	2	0	2	0	0	0	2	1	10	0	10	0	8	2	2	0	8	2	0			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:54723046G>A	ENST00000391750.1	-	9	1514	c.1378C>T	c.(1378-1380)Ctc>Ttc	p.L460F	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.L460F|LILRA6_ENST00000270464.5_Missense_Mutation_p.L460F|LILRB3_ENST00000245620.9_Missense_Mutation_p.L460F|LILRB3_ENST00000346401.6_Missense_Mutation_p.L472F|LILRB3_ENST00000424807.1_Missense_Mutation_p.L460F|LILRA6_ENST00000419410.2_Missense_Mutation_p.L460F|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.L477F			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	460					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aggaggaagaggaggaggaag	0.592													4	26					0	0	0	0	A	54723046	G	A	54723046	3	1	406	1	0	0	0	0	1	0	0	0	8846	1000	35	4	544	4	LILRB3	19	54723046	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08	409618	54723046	4405937	77	77590											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733993	56733993	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaggctctggggatgTcagtcctgggttctcttccc	5	12	13	11	0	3	1	1	1	2	0	6	2	5	2	2	4	1	3	2	4	1	2			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:56733993T>A	ENST00000587340.1	-	6	1401	c.706A>T	c.(706-708)Aca>Tca	p.T236S	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.T236S|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.T90S|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.T119S|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.T236S			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	236					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGGGGATGTCAGTCCTGGG	0.542													19	54					0	0	0	0	A	56733993	T	A	56733993	3	1	406	1	0	0	0	0	1	0	0	0	18329	1667	58	5	792	5	ZSCAN5A	19	56733993	Missense_Mutation	SNP	T	TCGA-F7-A622-01A-11D-A28R-08	2010947	56733993	2394990	78	77591											
ZNF831	128611	broad.mit.edu	37	chr20	57769568	57769568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggagccacagcacccGcagtccccacagcacccaaa	11	2	8	20	2	0	0	0	0	0	0	2	1	2	1	6	1	3	3	6	1	1	0			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr20:57769568G>A	ENST00000371030.2	+	1	3494	c.3494G>A	c.(3493-3495)cGc>cAc	p.R1165H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1165						intracellular	nucleic acid binding|zinc ion binding	p.R1165H(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)					CACAGCACCCGCAGTCCCCAC	0.672													4	153					0	0	0	0	A	57769568	G	A	57769568	3	1	406	1	0	0	0	0	1	0	0	0	18278	1087	38	1	3496	1	ZNF831	20	57769568	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08		57769568	5255952	79	77592											
PRICKLE3	4007	broad.mit.edu	37	chrX	49032432	49032432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctccttcagacaccaGagggtcgcggaagctgacgc	8	5	14	14	4	1	3	1	1	0	2	3	4	2	4	3	3	1	1	3	3	1	1			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chrX:49032432G>T	ENST00000376317.3	-	9	1532	c.1438C>A	c.(1438-1440)Ctg>Atg	p.L480M	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.L412M|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.L399M|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.L316M	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	480				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCAGACACCAGAGGGTCGCGG	0.741													5	7					0.000602214	0.000615901	1	0	T	49032432	G	T	49032432	3	4	406	1	0	0	0	0	1	0	0	0	12568	933	33	2	413	2	PRICKLE3	23	49032432	Missense_Mutation	SNP	G	TCGA-F7-A622-01A-11D-A28R-08		49032432	106238128	80	77593											
AADACL3	126767	broad.mit.edu	37	chr1	12785421	12785421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgccattctccaagccCtggatttacaaaccccttcg	9	12	5	15	1	2	0	0	0	2	0	4	1	2	1	5	1	4	0	5	1	4	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:12785421C>T	ENST00000332530.3	+	3	527	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	AADACL3_ENST00000359318.5_Silent_p.L171L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	171							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCAAGCCCTGGATTTACA	0.502													37	345					0	0	0	0	T	12785421	C	T	12785421	2	4	407	1	0	0	0	0	0	0	0	1	12	680	24	4		4	AADACL3	1	12785421	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		12785421	236465200	1	77594											
CATSPER4	378807	broad.mit.edu	37	chr1	26524863	26524863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcgctgtacaccctcttCatctgcatcacccaggacgg	7	10	9	15	2	4	0	2	0	2	0	4	1	4	1	2	2	3	4	2	2	1	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:26524863C>T	ENST00000456354.2	+	6	832	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	255					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCCTCTTCATCTGCATCA	0.532													39	196					0	0	0	0	T	26524863	C	T	26524863	2	4	407	1	0	0	0	0	0	0	0	1	2715	825	29	2		2	CATSPER4	1	26524863	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	13739442	26524863	222725758	2	77595											
HECTD3	79654	broad.mit.edu	37	chr1	45471685	45471685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaggaactccttacccCgaagggcagcccccatcagc	10	5	8	18	1	2	0	2	0	0	0	3	2	3	1	6	2	4	1	6	2	3	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:45471685C>T	ENST00000372172.4	-	14	1900	c.1829G>A	c.(1828-1830)cGg>cAg	p.R610Q	HECTD3_ENST00000372168.3_Missense_Mutation_p.R220Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	610	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCTTACCCCGAAGGGCAGC	0.592													24	113					0	0	0	0	T	45471685	C	T	45471685	3	4	407	1	0	0	0	0	1	0	0	0	7091	652	23	1	788	1	HECTD3	1	45471685	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	18946822	45471685	203778936	3	77596											
LRRC41	10489	broad.mit.edu	37	chr1	46751399	46751399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggctgagctagctggtGcccgtttgtatgaggatgta	6	12	17	6	1	0	2	0	2	0	0	0	3	0	3	1	4	3	6	1	4	3	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:46751399G>A	ENST00000343304.6	-	4	1415	c.1130C>T	c.(1129-1131)gCa>gTa	p.A377V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	377										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCTAGCTGGTGCCCGTTTGTA	0.617													26	170					0	0	0	0	A	46751399	G	A	46751399	3	1	407	1	0	0	0	0	1	0	0	0	9063	1319	46	4	1336	4	LRRC41	1	46751399	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	1279714	46751399	202499222	4	77597											
C1orf177	163747	broad.mit.edu	37	chr1	55279605	55279605	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccgaaaacccctacagAgaggatttactgggccaacc	15	5	8	13	1	0	1	0	0	0	1	0	4	0	2	5	2	5	0	5	2	6	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:55279605A>C	ENST00000358193.3	+	7	935	c.881A>C	c.(880-882)gAg>gCg	p.E294A	C1orf177_ENST00000371273.3_Missense_Mutation_p.E294A	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	294										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACCCCTACAGAGAGGATTTAC	0.517													13	159					0	0	0	0	C	55279605	A	C	55279605	3	2	407	1	0	0	0	0	1	0	0	0	2036	304	11	5	907	5	C1orf177	1	55279605	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	8528206	55279605	193971016	5	77598											
BTBD8	284697	broad.mit.edu	37	chr1	92595302	92595302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgagtggctgttgggctGaaagctcccaagagtacgtt	8	11	14	8	1	0	3	0	2	0	1	1	3	1	3	1	2	3	7	1	2	3	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:92595302G>A	ENST00000370382.3	+	5	988	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	BTBD8_ENST00000342818.3_Missense_Mutation_p.E241K|BTBD8_ENST00000540648.1_Missense_Mutation_p.E241K			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	241	BTB 2.					nucleus		p.E241K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTGTTGGGCTGAAAGCTCCCA	0.408													7	87					0	0	0	0	A	92595302	G	A	92595302	3	1	407	1	0	0	0	0	1	0	0	0	1556	1291	45	2	739	2	BTBD8	1	92595302	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	37315697	92595302	156655319	6	77599											
COL11A1	1301	broad.mit.edu	37	chr1	103548389	103548389	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgttttgttggggcactGagttgtgcttgctttgaaac	7	16	12	6	0	0	2	0	2	0	0	0	2	0	2	0	2	4	6	0	2	2	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:103548389G>T	ENST00000358392.2	-	2	563	c.246C>A	c.(244-246)ctC>ctA	p.L82L	COL11A1_ENST00000370096.3_Silent_p.L82L|COL11A1_ENST00000512756.1_Silent_p.L82L|COL11A1_ENST00000353414.4_Silent_p.L82L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	82	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGGGCACTGAGTTGTGCTT	0.318													14	67					2.31682e-05	2.43695e-05	1	0	T	103548389	G	T	103548389	2	4	407	1	0	0	0	0	0	0	0	1	3697	1277	45	2		2	COL11A1	1	103548389	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	10953087	103548389	145702232	7	77600											
CHIA	27159	broad.mit.edu	37	chr1	111854313	111854313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttttctttctatccaggtCttgtccttatactgaatttg	6	21	5	9	0	3	1	0	1	3	0	5	1	5	1	2	1	1	0	2	1	4	8			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:111854313C>G	ENST00000369740.1	+	3	131	c.28C>G	c.(28-30)Ctt>Gtt	p.L10V	CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.L10V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	10					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTATCCAGGTCTTGTCCTTAT	0.378													22	115					0	0	0	0	G	111854313	C	G	111854313	3	3	407	1	0	0	0	0	1	0	0	0	3371	913	32	2	34	2	CHIA	1	111854313	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	8305924	111854313	137396308	8	77601											
PRPF3	9129	broad.mit.edu	37	chr1	150298253	150298253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attctactctccgatttgtgGacaaactgtttgaggctgtg	8	15	10	8	1	2	1	0	1	2	0	3	3	2	2	1	2	2	2	1	2	2	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:150298253G>T	ENST00000324862.6	+	3	355	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	PRPF3_ENST00000414970.2_Missense_Mutation_p.D64Y|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	64	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCGATTTGTGGACAAACTGTT	0.448													23	143					2.98393e-07	3.22219e-07	1	0	T	150298253	G	T	150298253	3	4	407	1	0	0	0	0	1	0	0	0	12645	1174	41	2	196	2	PRPF3	1	150298253	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	38443940	150298253	98952368	9	77602											
SETDB1	9869	broad.mit.edu	37	chr1	150933188	150933188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgacagcagtggtgtaGacttgaaggaccaggaagat	12	8	13	8	0	1	4	0	2	1	2	1	6	1	6	2	3	1	2	2	3	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:150933188G>T	ENST00000271640.5	+	16	2840	c.2650G>T	c.(2650-2652)Gac>Tac	p.D884Y	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.D884Y	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	884	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGTGGTGTAGACTTGAAGGA	0.473													35	86					9.17885e-22	1.03035e-21	1	0	T	150933188	G	T	150933188	3	4	407	1	0	0	0	0	1	0	0	0	14225	942	33	2	2708	2	SETDB1	1	150933188	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	634935	150933188	98317433	10	77603											
FLG	2312	broad.mit.edu	37	chr1	152283696	152283696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctcctgattgtttgtcCttacgagtttgtctgcttgc	3	18	9	11	2	2	1	0	1	2	0	4	2	3	1	3	0	3	3	3	0	1	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:152283696C>T	ENST00000368799.1	-	3	3701	c.3666G>A	c.(3664-3666)aaG>aaA	p.K1222K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1222	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTTGTCCTTACGAGTTT	0.567									Ichthyosis				217	308					0	0	0	0	T	152283696	C	T	152283696	2	4	407	1	0	0	0	0	0	0	0	1	5967	680	24	4		4	FLG	1	152283696	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1350508	152283696	96966925	11	77604											
SLC39A1	27173	broad.mit.edu	37	chr1	153932693	153932693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggatttccagaaaggtgaTatagagaaaggtgccagctg	14	8	13	6	0	0	3	0	1	0	2	1	5	1	4	2	3	2	1	2	3	4	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:153932693T>C	ENST00000368623.3	-	3	1615	c.856A>G	c.(856-858)Atc>Gtc	p.I286V	SLC39A1_ENST00000310483.6_Missense_Mutation_p.I286V|SLC39A1_ENST00000356205.4_Missense_Mutation_p.I286V|SLC39A1_ENST00000537590.1_Missense_Mutation_p.I184V|SLC39A1_ENST00000368621.1_Missense_Mutation_p.I286V			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	286						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		AGAAAGGTGATATAGAGAAAG	0.592													21	135					0	0	0	0	C	153932693	T	C	153932693	3	2	407	1	0	0	0	0	1	0	0	0	14700	1406	49	5	122	5	SLC39A1	1	153932693	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	1648997	153932693	95317928	12	77605											
SCAMP3	10067	broad.mit.edu	37	chr1	155227144	155227144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggacgaagaaaatgaaGaagaaaacgaagaaattgaa	22	5	10	4	2	0	6	0	2	0	4	1	9	1	7	1	1	1	0	1	1	10	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:155227144G>C	ENST00000355379.3	-	6	911	c.633C>G	c.(631-633)ttC>ttG	p.F211L	SCAMP3_ENST00000302631.3_Missense_Mutation_p.F237L|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	237					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAAAATGAAGAAGAAAACGA	0.478													11	43					0	0	0	0	C	155227144	G	C	155227144	3	2	407	1	0	0	0	0	1	0	0	0	13958	933	33	2	344	2	SCAMP3	1	155227144	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	1294451	155227144	94023477	13	77606											
CLK2	1196	broad.mit.edu	37	chr1	155238539	155238539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgacgtggtagatgaggtgGccctcagcgtcgtcctctac	6	9	13	13	4	2	2	1	1	1	1	4	3	3	2	3	3	2	1	3	3	2	2	rs139020994		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:155238539G>A	ENST00000368361.4	-	4	762	c.447C>T	c.(445-447)ggC>ggT	p.G149G	CLK2_ENST00000536801.1_Silent_p.G149G|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.G147G|CLK2_ENST00000361168.5_Silent_p.G148G			P49760	CLK2_HUMAN	CDC-like kinase 2	149						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGATGAGGTGGCCCTCAGCGT	0.612								Other conserved DNA damage response genes					16	108					0	0	0	0	A	155238539	G	A	155238539	2	1	407	1	0	0	0	0	0	0	0	1	3567	1190	42	4		4	CLK2	1	155238539	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	11395	155238539	94012082	14	77607											
OR10X1	128367	broad.mit.edu	37	chr1	158548963	158548963	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcagctgaagggatccTgaggacagtagaaataatga	14	7	12	8	0	1	4	1	3	0	1	2	6	2	6	2	2	1	2	2	2	4	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:158548963T>A	ENST00000368150.1	-	1	726	c.727A>T	c.(727-729)Agg>Tgg	p.R243W		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAAGGGATCCTGAGGACAGTA	0.458													23	121					0	0	0	0	A	158548963	T	A	158548963	3	1	407	1	0	0	0	0	1	0	0	0	10993	1579	55	5	248	5	OR10X1	1	158548963	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	3310424	158548963	90701658	15	77608											
SPTA1	6708	broad.mit.edu	37	chr1	158592867	158592867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagcagagcggcataaCgctcttcaatggctttagac	10	10	10	11	2	3	2	2	0	1	2	3	2	3	2	0	2	3	5	0	2	3	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:158592867C>T	ENST00000368148.3	-	43	6206	c.6026G>A	c.(6025-6027)cGt>cAt	p.R2009H	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2006H|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2009					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCGGCATAACGCTCTTCAAT	0.498													59	399					0	0	0	0	T	158592867	C	T	158592867	3	4	407	1	0	0	0	0	1	0	0	0	15206	536	19	1	1273	1	SPTA1	1	158592867	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	43904	158592867	90657754	16	77609											
FCGR2B	2213	broad.mit.edu	37	chr1	161645049	161645049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtgtgcccctcccagctCtcccaggataccctgagtgc	5	9	9	18	0	1	1	0	1	1	0	3	2	2	2	6	1	4	1	6	1	1	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:161645049C>G	ENST00000367962.4	+	6	890	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V	FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000358671.5_Missense_Mutation_p.L255V|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L248V|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L248V			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	255					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCCAGCTCTCCCAGGATA	0.602			T	?	ALL								3	16					0	0	0	0	G	161645049	C	G	161645049	3	3	407	1	0	0	0	0	1	0	0	0	5827	913	32	2	785	2	FCGR2B	1	161645049	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	3052182	161645049	87605572	17	77610											
TPR	7175	broad.mit.edu	37	chr1	186332067	186332067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagttttggttttcaactCtgtattcagccatgtattct	8	19	6	8	0	5	0	3	0	2	0	5	0	5	0	1	1	2	4	1	1	3	8			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:186332067C>G	ENST00000367478.3	-	6	894	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	200					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTTTTCAACTCTGTATTCAGC	0.343			T	NTRK1	papillary thyroid								3	27					0	0	0	0	G	186332067	C	G	186332067	3	3	407	1	0	0	0	0	1	0	0	0	16511	922	32	2	6677	2	TPR	1	186332067	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	24687018	186332067	62918554	18	77611											
CACNA1S	779	broad.mit.edu	37	chr1	201036040	201036040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatggagatgagggacaCggccaccaccagcaggtcca	11	4	12	14	1	0	2	0	1	0	1	2	4	2	3	5	4	1	1	5	4	0	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:201036040C>T	ENST00000362061.3	-	20	2858	c.2632G>A	c.(2632-2634)Gtg>Atg	p.V878M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V878M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	878					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGAGGGACACGGCCACCACC	0.607													7	44					0	0	0	0	T	201036040	C	T	201036040	3	4	407	1	0	0	0	0	1	0	0	0	2572	536	19	1	3089	1	CACNA1S	1	201036040	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	14703973	201036040	48214581	19	77612											
CACNA1S	779	broad.mit.edu	37	chr1	201052428	201052428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacttccagcgaaagatgcGgttccactgcctccaatgtc	9	9	9	14	2	0	1	0	0	0	1	4	2	3	1	4	1	3	2	4	1	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:201052428G>A	ENST00000362061.3	-	10	1481	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	419					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R419C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGAAAGATGCGGTTCCACTGC	0.542													29	156					0	0	0	0	A	201052428	G	A	201052428	3	1	407	1	0	0	0	0	1	0	0	0	2572	1116	39	1	4506	1	CACNA1S	1	201052428	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	16388	201052428	48198193	20	77613											
ADIPOR1	51094	broad.mit.edu	37	chr1	202911163	202911163	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttcttacccatatgtcaAattttccaggaaagaagcgc	13	12	6	10	1	2	1	1	0	1	1	3	2	3	2	2	1	2	0	2	1	5	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:202911163A>C	ENST00000340990.5	-	7	1287	c.989T>G	c.(988-990)tTt>tGt	p.F330C	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.F330C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	330					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCATATGTCAAATTTTCCAGG	0.488													21	59					0	0	0	0	C	202911163	A	C	202911163	3	2	407	1	0	0	0	0	1	0	0	0	318	14	1	5	146	5	ADIPOR1	1	202911163	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	1858735	202911163	46339458	21	77614											
USH2A	7399	broad.mit.edu	37	chr1	216595553	216595553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttcttgaaagctcccacGttctccagccttgggaaaag	10	11	8	12	1	2	1	0	1	2	0	4	2	3	2	3	1	2	2	3	1	3	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:216595553G>A	ENST00000366943.2	-	2	512	c.126C>T	c.(124-126)aaC>aaT	p.N42N	USH2A_ENST00000366942.3_Silent_p.N42N|USH2A_ENST00000307340.3_Silent_p.N42N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	42					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGCTCCCACGTTCTCCAGCC	0.468										HNSCC(13;0.011)			13	84					0	0	0	0	A	216595553	G	A	216595553	2	1	407	1	0	0	0	0	0	0	0	1	17132	1136	40	1		1	USH2A	1	216595553	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	13684390	216595553	32655068	22	77615											
ACTA1	58	broad.mit.edu	37	chr1	229568747	229568747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgacctggtgtcgggggCggcccacgatggacgggaac	6	5	18	12	4	0	1	0	1	0	0	1	4	0	3	3	6	1	0	3	6	1	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:229568747C>T	ENST00000366684.3	-	2	218	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ACTA1_ENST00000366683.2_Missense_Mutation_p.R39H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	39					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			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)	GTGTCGGGGGCGGCCCACGAT	0.726													6	67					0	0	0	0	T	229568747	C	T	229568747	3	4	407	1	0	0	0	0	1	0	0	0	191	768	27	1	1041	1	ACTA1	1	229568747	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	12973194	229568747	19681874	23	77616											
FMN2	56776	broad.mit.edu	37	chr1	240341333	240341333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggccaccatccaaacctcCcgatgaggaacacaggctcg	11	4	11	15	2	0	1	0	1	0	0	3	3	2	2	5	4	2	1	5	4	2	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:240341333C>T	ENST00000319653.9	+	3	2125	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	632					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCAAACCTCCCGATGAGGAA	0.483													11	72					0	0	0	0	T	240341333	C	T	240341333	3	4	407	1	0	0	0	0	1	0	0	0	5995	623	22	4	1905	4	FMN2	1	240341333	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	10772586	240341333	8909288	24	77617											
ADCY3	109	broad.mit.edu	37	chr2	25047389	25047389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccacaagaaaagtgtcCgtgccagtttttctacctac	10	13	6	12	1	2	1	0	0	2	1	4	1	4	1	4	0	3	1	4	0	5	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:25047389C>T	ENST00000260600.5	-	16	3445	c.2594G>A	c.(2593-2595)cGg>cAg	p.R865Q	ADCY3_ENST00000405392.1_Missense_Mutation_p.R452Q	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	865					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAAAAGTGTCCGTGCCAGTTT	0.527													6	66					0	0	0	0	T	25047389	C	T	25047389	3	4	407	1	0	0	0	0	1	0	0	0	295	652	23	1	864	1	ADCY3	2	25047389	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		25047389	218151984	25	77618											
STON1	11037	broad.mit.edu	37	chr2	48809492	48809492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaggatacactttcctGtcccatcgcagtggatcaag	12	11	8	10	1	1	0	1	0	0	0	4	2	3	2	2	2	1	1	2	2	4	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:48809492G>A	ENST00000309835.3	+	1	1730	c.1720G>A	c.(1720-1722)Gtc>Atc	p.V574I	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V574I|STON1_ENST00000406226.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V574I|STON1_ENST00000404752.1_Missense_Mutation_p.V574I					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTTTCCTGTCCCATCGCA	0.498													21	105					0	0	0	0	A	48809492	G	A	48809492	3	1	407	1	0	0	0	0	1	0	0	0	15406	1377	48	4	1722	4	STON1	2	48809492	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	23762103	48809492	194389881	26	77619											
WDR92	116143	broad.mit.edu	37	chr2	68361919	68361919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcggacctgccacacagTagatttatgagcctaaatag	12	10	10	9	1	0	2	0	1	0	1	1	3	0	3	3	1	2	1	3	1	5	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:68361919T>C	ENST00000295121.6	-	7	897	c.781A>G	c.(781-783)Act>Gct	p.T261A	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.T261A|WDR92_ENST00000406245.2_Missense_Mutation_p.T160A	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	261					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TGCCACACAGTAGATTTATGA	0.488													18	61					0	0	0	0	C	68361919	T	C	68361919	3	2	407	1	0	0	0	0	1	0	0	0	17435	1638	57	5	300	5	WDR92	2	68361919	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	19552427	68361919	174837454	27	77620											
REG1B	5968	broad.mit.edu	37	chr2	79312679	79312679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctcggggatccagtgtcCcaggacttgtaggagaccag	8	8	14	11	1	0	1	0	0	0	1	3	4	2	3	3	4	1	2	3	4	1	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:79312679C>A	ENST00000305089.3	-	5	452	c.372G>T	c.(370-372)tgG>tgT	p.W124C		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATCCAGTGTCCCAGGACTTGT	0.542													11	76					0.00136819	0.00139271	1	0	A	79312679	C	A	79312679	3	1	407	1	0	0	0	0	1	0	0	0	13293	624	22	4	136	4	REG1B	2	79312679	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	10950760	79312679	163886694	28	77621											
VWA3B	200403	broad.mit.edu	37	chr2	98737844	98737844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactgccatcagttgggttGagaaactgacggttgagctg	9	11	13	8	1	1	3	1	3	0	1	1	4	1	3	1	2	4	4	1	2	2	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:98737844G>A	ENST00000477737.1	+	5	829	c.625G>A	c.(625-627)Gag>Aag	p.E209K	VWA3B_ENST00000451075.2_Missense_Mutation_p.E59K|VWA3B_ENST00000435344.1_Missense_Mutation_p.E209K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	209										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGTTGGGTTGAGAAACTGAC	0.542													30	95					0	0	0	0	A	98737844	G	A	98737844	3	1	407	1	0	0	0	0	1	0	0	0	17337	1291	45	2	639	2	VWA3B	2	98737844	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	19425165	98737844	144461529	29	77622											
RGPD3	653489	broad.mit.edu	37	chr2	107042520	107042520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctggtgactgactataaTatactgaagggccagtagtt	12	12	11	6	0	0	3	0	3	0	0	0	3	0	3	1	2	2	3	1	2	6	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:107042520T>C	ENST00000409886.3	-	19	2717	c.2630A>G	c.(2629-2631)tAt>tGt	p.Y877C	RGPD3_ENST00000304514.7_Missense_Mutation_p.Y877C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	877					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGACTATAATATACTGAAGG	0.333													4	133					0	0	0	0	C	107042520	T	C	107042520	3	2	407	1	0	0	0	0	1	0	0	0	13369	1406	49	5	2666	5	RGPD3	2	107042520	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	8304676	107042520	136156853	30	77623											
ZC3H6	376940	broad.mit.edu	37	chr2	113089497	113089497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccctcacttacccagatCaaaccctggttcatcacagc	10	9	5	17	0	4	1	4	0	0	1	4	1	4	1	4	1	4	1	4	1	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:113089497C>T	ENST00000409871.1	+	12	3403	c.3002C>T	c.(3001-3003)tCa>tTa	p.S1001L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S1001L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1001							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTACCCAGATCAAACCCTGGT	0.507													7	42					0	0	0	0	T	113089497	C	T	113089497	3	4	407	1	0	0	0	0	1	0	0	0	17666	838	29	2	3048	2	ZC3H6	2	113089497	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	6046977	113089497	130109876	31	77624											
DDX18	8886	broad.mit.edu	37	chr2	118582169	118582169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagacagactatgctcttttCtgccacccaaactcgaaaag	13	10	6	12	1	2	2	0	0	2	2	3	3	2	2	2	0	3	1	2	0	5	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:118582169C>T	ENST00000263239.2	+	8	1219	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	364	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGCTCTTTTCTGCCACCCAA	0.388													12	102					0	0	0	0	T	118582169	C	T	118582169	3	4	407	1	0	0	0	0	1	0	0	0	4377	913	32	2	1121	2	DDX18	2	118582169	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	5492672	118582169	124617204	32	77625											
MYO7B	4648	broad.mit.edu	37	chr2	128383016	128383016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcagagagcaaggctgTccaggagctgctgcccagct	9	6	13	13	0	1	1	1	0	0	1	2	3	2	2	2	2	6	6	2	2	1	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:128383016T>C	ENST00000389524.4	+	30	4096	c.4043T>C	c.(4042-4044)gTc>gCc	p.V1348A	MYO7B_ENST00000428314.1_Missense_Mutation_p.V1348A|MYO7B_ENST00000409816.2_Missense_Mutation_p.V1348A|MYO7B_ENST00000409090.1_Missense_Mutation_p.V201A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1348	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCAAGGCTGTCCAGGAGCTG	0.682													3	50					0	0	0	0	C	128383016	T	C	128383016	3	2	407	1	0	0	0	0	1	0	0	0	10153	1667	58	5	4157	5	MYO7B	2	128383016	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	9800847	128383016	114816357	33	77626											
RIF1	55183	broad.mit.edu	37	chr2	152325272	152325272	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattacatcaaacatgtggTaagtggttatttaggcttct	12	15	9	5	0	2	1	1	0	1	1	2	1	2	1	0	3	2	3	0	3	5	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:152325272T>C	ENST00000243326.4	+	32	7424		c.e32+2		RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAACATGTGGTAAGTGGTTAT	0.388													15	71					0	0	0	0	C	152325272	T	C	152325272	5	2	407	1	0	0	0	0	0	0	1	0	13442	1652	57	5	7069	5	RIF1	2	152325272	Splice_Site	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	23942256	152325272	90874101	34	77627											
GCA	25801	broad.mit.edu	37	chr2	163213292	163213292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcacacaggaaaaatgggaTttaatgcattcaaagagcta	18	9	8	6	0	2	1	2	0	0	1	2	3	2	3	0	2	2	2	0	2	5	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:163213292T>C	ENST00000437150.2	+	5	492	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	GCA_ENST00000429691.2_Intron|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000233612.4_Missense_Mutation_p.F92L	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	111	EF-hand 2.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						AAAAATGGGATTTAATGCATT	0.353													4	43					0	0	0	0	C	163213292	T	C	163213292	3	2	407	1	0	0	0	0	1	0	0	0	6332	1493	52	5	349	5	GCA	2	163213292	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	10888020	163213292	79986081	35	77628											
SCN2A	6326	broad.mit.edu	37	chr2	166201151	166201151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgtgggggctctaggaaaCctcaccttggtattggccat	7	12	12	10	0	3	0	1	0	2	0	3	1	3	1	3	5	1	2	3	5	3	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:166201151C>A	ENST00000357398.3	+	16	2939	c.2649C>A	c.(2647-2649)aaC>aaA	p.N883K	SCN2A_ENST00000375427.2_Missense_Mutation_p.N883K|SCN2A_ENST00000375437.2_Missense_Mutation_p.N883K|SCN2A_ENST00000283256.6_Missense_Mutation_p.N883K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	883					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTCTAGGAAACCTCACCTTGG	0.428													29	188					1.39806e-14	1.55097e-14	1	0	A	166201151	C	A	166201151	3	1	407	1	0	0	0	0	1	0	0	0	14003	506	18	4	2803	4	SCN2A	2	166201151	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	2987859	166201151	76998222	36	77629											
SCN7A	6332	broad.mit.edu	37	chr2	167313566	167313566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaaatatcatgtagacCttcccagaagcataaagtat	19	9	5	8	0	1	2	1	0	0	2	2	2	2	2	2	0	1	3	2	0	9	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:167313566C>T	ENST00000409855.1	-	10	1230	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	368					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCATGTAGACCTTCCCAGAAG	0.333													6	30					0	0	0	0	T	167313566	C	T	167313566	2	4	407	1	0	0	0	0	0	0	0	1	14010	680	24	4		4	SCN7A	2	167313566	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1112415	167313566	75885807	37	77630											
XIRP2	129446	broad.mit.edu	37	chr2	168100467	168100467	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattagacattctaaaagaAgttcctgatgcagattctct	13	13	6	9	0	2	4	0	1	2	3	4	4	3	4	2	0	1	2	2	0	4	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:168100467A>G	ENST00000409195.1	+	9	2654	c.2565A>G	c.(2563-2565)gaA>gaG	p.E855E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.E855E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E633E|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	680					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCTAAAAGAAGTTCCTGATG	0.363													53	129					0	0	0	0	G	168100467	A	G	168100467	2	3	407	1	0	0	0	0	0	0	0	1	17526	69	3	5		5	XIRP2	2	168100467	Silent	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	786901	168100467	75098906	38	77631											
G6PC2	57818	broad.mit.edu	37	chr2	169764145	169764145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagtctgggcacatacctGaagaccaacctctttctctt	9	11	7	14	0	3	2	0	1	3	1	4	2	3	2	4	1	2	1	4	1	3	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:169764145G>A	ENST00000375363.3	+	5	716	c.624G>A	c.(622-624)ctG>ctA	p.L208L	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	208					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCACATACCTGAAGACCAACC	0.512													32	143					0	0	0	0	A	169764145	G	A	169764145	2	1	407	1	0	0	0	0	0	0	0	1	6192	1277	45	2		2	G6PC2	2	169764145	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	1663678	169764145	73435228	39	77632											
TTN	7273	broad.mit.edu	37	chr2	179439089	179439089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttccaggtgggtcaatggGatccagagccaacataggtt	10	11	12	8	0	1	1	1	0	0	1	3	2	3	2	3	4	2	1	3	4	3	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:179439089G>C	ENST00000589042.1	-	326	71994	c.71770C>G	c.(71770-71772)Ccc>Gcc	p.P23924A	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14859A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21356A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14984A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22283A|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15051A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22283	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTCAATGGGATCCAGAGCC	0.428													32	228					0	0	0	0	C	179439089	G	C	179439089	3	2	407	1	0	0	0	0	1	0	0	0	16831	1174	41	2	36357	2	TTN	2	179439089	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	9674944	179439089	63760284	40	77633											
TTN	7273	broad.mit.edu	37	chr2	179498394	179498394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaatttcacagtgaagtagGgatcggcctctgtaaaagac	13	10	11	7	1	2	2	1	1	1	1	3	3	2	3	1	2	0	3	1	2	5	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:179498394G>T	ENST00000589042.1	-	232	42916	c.42692C>A	c.(42691-42693)cCc>cAc	p.P14231H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P5166H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P11663H|TTN_ENST00000359218.5_Missense_Mutation_p.P5291H|TTN_ENST00000591111.1_Missense_Mutation_p.P12590H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P5358H|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12590	Fibronectin type-III 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGAAGTAGGGATCGGCCTC	0.333													16	22					6.31663e-08	6.87326e-08	1	0	T	179498394	G	T	179498394	3	4	407	1	0	0	0	0	1	0	0	0	16831	1232	43	4	65525	4	TTN	2	179498394	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	59305	179498394	63700979	41	77634											
DNAH7	56171	broad.mit.edu	37	chr2	196915915	196915915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttggataagttaccataGacagctgtggtaaagctctt	12	14	9	6	0	1	1	0	0	1	1	1	2	1	2	1	2	3	4	1	2	6	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:196915915G>C	ENST00000312428.6	-	3	237	c.137C>G	c.(136-138)tCt>tGt	p.S46C	DNAH7_ENST00000410072.1_Missense_Mutation_p.S46C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	46	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTTACCATAGACAGCTGTGG	0.333													14	149					0	0	0	0	C	196915915	G	C	196915915	3	2	407	1	0	0	0	0	1	0	0	0	4642	942	33	2	12189	2	DNAH7	2	196915915	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	17417521	196915915	46283458	42	77635											
PLCL1	5334	broad.mit.edu	37	chr2	198949130	198949130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaaaaactaaccaccCgcgtgaccgaagaggaattt	16	5	10	10	3	0	2	0	1	0	1	0	5	0	4	3	2	2	1	3	2	6	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:198949130C>T	ENST00000428675.1	+	2	1287	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	PLCL1_ENST00000437704.2_Missense_Mutation_p.R199C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	297					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACTAACCACCCGCGTGACCGA	0.373													39	159					0	0	0	0	T	198949130	C	T	198949130	3	4	407	1	0	0	0	0	1	0	0	0	12111	652	23	1	895	1	PLCL1	2	198949130	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	2033215	198949130	44250243	43	77636											
ALS2	57679	broad.mit.edu	37	chr2	202589031	202589031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtacctagtgatatcatCaaagacaccatatcctgctt	13	12	5	11	0	2	2	2	1	0	1	3	2	3	2	3	0	2	2	3	0	5	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:202589031C>G	ENST00000264276.6	-	21	3871	c.3499G>C	c.(3499-3501)Gat>Cat	p.D1167H	ALS2_ENST00000457679.2_Missense_Mutation_p.D479H	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1167					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTGATATCATCAAAGACACCA	0.383													5	125					0	0	0	0	G	202589031	C	G	202589031	3	3	407	1	0	0	0	0	1	0	0	0	550	826	29	2	1530	2	ALS2	2	202589031	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	3639901	202589031	40610342	44	77637											
FARSB	10056	broad.mit.edu	37	chr2	223496381	223496381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctagtatttactgttattCtggaatgatcccctgcaatg	9	17	7	8	0	2	1	0	1	2	0	3	2	3	2	2	1	2	3	2	1	6	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:223496381C>T	ENST00000281828.6	-	8	991	c.728G>A	c.(727-729)aGa>aAa	p.R243K	FARSB_ENST00000536361.1_Missense_Mutation_p.R144K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	243					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TACTGTTATTCTGGAATGATC	0.299													18	30					0	0	0	0	T	223496381	C	T	223496381	3	4	407	1	0	0	0	0	1	0	0	0	5725	913	32	2	1081	2	FARSB	2	223496381	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	20907350	223496381	19702992	45	77638											
GRM7	2917	broad.mit.edu	37	chr3	7188348	7188348	+	Missense_Mutation	SNP	A	A	T																															tccttcacgcagatttccaaAgaggcaggtaggatgagatt																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:7188348A>T	ENST00000486284.1	+	2	1003	c.729A>T	c.(727-729)aaA>aaT	p.K243N	GRM7_ENST00000357716.4_Missense_Mutation_p.K243N|GRM7_ENST00000403881.1_Missense_Mutation_p.K243N|GRM7_ENST00000389336.4_Missense_Mutation_p.K243N|GRM7_ENST00000402647.2_Missense_Mutation_p.K243N	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	243					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGATTTCCAAAGAGGCAGGTA	0.448													8	39					0	0	0	0	T	7188348	A	T	7188348	3	4	407	1	0	0	0	0	1	0	0	0	6852	69	3	5	735	5	GRM7	3	7188348	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08		7188348	190834082	46	77639	1033	2									
GRM7	2917	broad.mit.edu	37	chr3	7188349	7188349	+	Nonsense_Mutation	SNP	G	G	T																															ccttcacgcagatttccaaaGaggcaggtaggatgagattg																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:7188349G>T	ENST00000486284.1	+	2	1004	c.730G>T	c.(730-732)Gag>Tag	p.E244*	GRM7_ENST00000357716.4_Nonsense_Mutation_p.E244*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.E244*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E244*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.E244*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	244					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GATTTCCAAAGAGGCAGGTAG	0.448													8	38					5.18039e-06	5.53094e-06	1	0	T	7188349	G	T	7188349	4	4	407	1	0	0	0	0	0	1	0	0	6852	943	33	2	736	2	GRM7	3	7188349	Nonsense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	1	7188349	190834081	47	77640	1033	2									
ZFYVE20	64145	broad.mit.edu	37	chr3	15137556	15137556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaagctgatagaaagaCtgcagatccttcaggcacag	14	7	12	8	0	1	5	1	2	0	3	2	6	2	5	1	1	2	3	1	1	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:15137556C>T	ENST00000253699.3	-	4	685	c.72G>A	c.(70-72)caG>caA	p.Q24Q	ZFYVE20_ENST00000476527.2_Silent_p.Q24Q|ZFYVE20_ENST00000449050.1_Silent_p.Q24Q|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Silent_p.Q24Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	24					blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GATAGAAAGACTGCAGATCCT	0.537													11	98					0	0	0	0	T	15137556	C	T	15137556	2	4	407	1	0	0	0	0	0	0	0	1	17761	564	20	4		4	ZFYVE20	3	15137556	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	7949207	15137556	182884874	48	77641											
MYD88	4615	broad.mit.edu	37	chr3	38180479	38180479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagctgcttaccaagctGggccgcgacgacgtgctgct	6	8	13	14	5	0	0	0	0	0	0	1	3	0	0	2	1	6	5	2	1	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:38180479G>A	ENST00000417037.2	+	1	511	c.327G>A	c.(325-327)ctG>ctA	p.L109L	MYD88_ENST00000396334.3_Silent_p.L109L|MYD88_ENST00000495303.1_Silent_p.L109L|MYD88_ENST00000443433.2_Silent_p.L109L|MYD88_ENST00000424893.1_Silent_p.L109L	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	96	Death.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTACCAAGCTGGGCCGCGACG	0.677			Mis		ABC-DLBCL								11	51					0	0	0	0	A	38180479	G	A	38180479	2	1	407	1	0	0	0	0	0	0	0	1	10093	1335	47	4		4	MYD88	3	38180479	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	23042923	38180479	159841951	49	77642											
MAGI1	9223	broad.mit.edu	37	chr3	65367601	65367601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agattgacgtggccttgcttGgcagcttgttgcataagctg	7	13	13	8	1	0	2	0	1	0	1	0	2	0	2	1	2	4	6	1	2	1	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:65367601G>A	ENST00000330909.8	-	17	2735	c.2736C>T	c.(2734-2736)gcC>gcT	p.A912A	MAGI1_ENST00000483466.1_Silent_p.A912A|MAGI1_ENST00000497477.2_Silent_p.A884A|MAGI1_ENST00000402939.2_Silent_p.A884A	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	912					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGCCTTGCTTGGCAGCTTGTT	0.488													24	29					0	0	0	0	A	65367601	G	A	65367601	2	1	407	1	0	0	0	0	0	0	0	1	9259	1335	47	4		4	MAGI1	3	65367601	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	27187122	65367601	132654829	50	77643											
TMF1	7110	broad.mit.edu	37	chr3	69097184	69097184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaggttccaaagctatGtcctttgtttctgctgtgag	6	17	9	9	0	1	1	0	1	1	0	4	1	4	1	3	1	2	4	3	1	3	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:69097184G>A	ENST00000543976.1	-	2	918	c.672C>T	c.(670-672)gaC>gaT	p.D224D	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Silent_p.D224D|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	224					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCAAAGCTATGTCCTTTGTTT	0.393													17	71					0	0	0	0	A	69097184	G	A	69097184	2	1	407	1	0	0	0	0	0	0	0	1	16322	1368	48	4		4	TMF1	3	69097184	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	3729583	69097184	128925246	51	77644											
KBTBD12	166348	broad.mit.edu	37	chr3	127703068	127703068	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagccaggatgaatcccCgagacctcatccccccgcct	9	7	8	17	2	1	2	1	1	0	1	3	4	3	3	8	1	1	1	8	1	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:127703068C>T	ENST00000405109.1	+	6	2286	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	KBTBD12_ENST00000343941.4_Nonsense_Mutation_p.R182*|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Nonsense_Mutation_p.R214*|KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.R607*			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	607										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GATGAATCCCCGAGACCTCAT	0.522													11	101					0	0	0	0	T	127703068	C	T	127703068	4	4	407	1	0	0	0	0	0	1	0	0	8044	644	23	1	1837	1	KBTBD12	3	127703068	Nonsense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	58605884	127703068	70319362	52	77645											
COL6A6	131873	broad.mit.edu	37	chr3	130282222	130282222	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctctgcacccgcaaatggGagagacaagaaacagtttcc	13	8	9	11	1	1	2	0	0	1	2	3	4	2	3	2	1	2	3	2	1	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:130282222G>T	ENST00000358511.6	+	2	406	c.375G>T	c.(373-375)ggG>ggT	p.G125G	COL6A6_ENST00000453409.2_Silent_p.G125G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	125	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCGCAAATGGGAGAGACAAGA	0.507													26	50					3.28513e-13	3.61619e-13	1	0	T	130282222	G	T	130282222	2	4	407	1	0	0	0	0	0	0	0	1	3733	1161	41	2		2	COL6A6	3	130282222	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2579154	130282222	67740208	53	77646											
UBA5	79876	broad.mit.edu	37	chr3	132390725	132390725	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaatctgcttgttttgcGgtatgcattattctttttgg	6	19	11	5	1	2	1	0	0	2	1	2	2	2	1	0	3	3	4	0	3	3	8			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:132390725G>A	ENST00000356232.4	+	7	1756	c.684_splice	c.e7+1	p.A228_splice	UBA5_ENST00000494238.2_Splice_Site_p.A172_splice|UBA5_ENST00000473651.1_Splice_Site_p.A228_splice|UBA5_ENST00000264991.4_Splice_Site_p.A172_splice|UBA5_ENST00000493720.2_Splice_Site_p.A228_splice	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	228					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTGTTTTGCGGTATGCATTA	0.358													13	98					0	0	0	0	A	132390725	G	A	132390725	5	1	407	1	0	0	0	0	0	0	1	0	16926	1130	39	1	710	1	UBA5	3	132390725	Splice_Site	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2108503	132390725	65631705	54	77647											
EPHB1	2047	broad.mit.edu	37	chr3	134885840	134885840	+	Frame_Shift_Del	DEL	C	C	-																															taagctccagcattacagcaCaggccgaggtaagtagaaag																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:134885840delC	ENST00000398015.3	+	9	2121	c.1751delC	c.(1750-1752)aafs	p.T584fs	EPHB1_ENST00000493838.1_Frame_Shift_Del_p.T145fs	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	584						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATTACAGCACAGGCCGAGGT	0.547													45	571	---	---	---	---					-	134885840	C	-	134885840	7	5	407	1	0	1	0	1	0	0	0	0	5212	478	17	0	1785	0	EPHB1	3	134885840	Frame_Shift_Del	DEL	C	TCGA-F7-A623-01A-11D-A28R-08	2495115	134885840	63136590	55	77648											
DBR1	51163	broad.mit.edu	37	chr3	137882255	137882255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcacattaataagatcatCcgtagccctgagaatagtga	15	10	8	8	1	2	3	2	2	0	2	3	4	3	3	2	0	1	1	2	0	5	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:137882255C>T	ENST00000260803.4	-	7	1030	c.877G>A	c.(877-879)Gat>Aat	p.D293N	DBR1_ENST00000505015.2_Missense_Mutation_p.D59N	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	293						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATAAGATCATCCGTAGCCCTG	0.408													9	49					0	0	0	0	T	137882255	C	T	137882255	3	4	407	1	0	0	0	0	1	0	0	0	4290	855	30	2	765	2	DBR1	3	137882255	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	2996415	137882255	60140175	56	77649											
SPSB4	92369	broad.mit.edu	37	chr3	140785637	140785637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgctacatcaacggccttGaccgtaagttgtgctgggct	7	11	12	11	3	1	1	1	1	0	0	1	1	1	1	2	2	4	5	2	2	3	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:140785637G>A	ENST00000310546.2	+	2	1435	c.691G>A	c.(691-693)Gac>Aac	p.D231N		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	231	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CAACGGCCTTGACCGTAAGTT	0.637													4	85					0	0	0	0	A	140785637	G	A	140785637	3	1	407	1	0	0	0	0	1	0	0	0	15205	1290	45	2	693	2	SPSB4	3	140785637	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2903382	140785637	57236793	57	77650											
SPATA16	83893	broad.mit.edu	37	chr3	172766782	172766782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctggtttcctcatccgtaGataacaggtaacaagctttg	11	13	8	9	1	2	1	1	0	1	1	4	1	4	1	2	2	3	4	2	2	4	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:172766782G>C	ENST00000351008.3	-	3	898	c.715C>G	c.(715-717)Cta>Gta	p.L239V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	239					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCATCCGTAGATAACAGGTA	0.428													7	71					0	0	0	0	C	172766782	G	C	172766782	3	2	407	1	0	0	0	0	1	0	0	0	15091	933	33	2	1030	2	SPATA16	3	172766782	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	31981145	172766782	25255648	58	77651											
TNK2	10188	broad.mit.edu	37	chr3	195611811	195611811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcaggggcccctcccCtgctgggcccccaggggcgg	2	5	16	18	1	1	0	0	0	1	0	2	0	2	0	6	6	2	3	6	6	0	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:195611811C>T	ENST00000333602.6	-	4	945	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	TNK2_ENST00000381916.2_Missense_Mutation_p.G173R|TNK2_ENST00000428187.1_Missense_Mutation_p.G142R|TNK2_ENST00000392400.1_Missense_Mutation_p.G110R|TNK2_ENST00000316664.3_Missense_Mutation_p.G110R|TNK2_ENST00000468819.1_5'UTR	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	110	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGCCCCTCCCCTGCTGGGCCC	0.647													7	103					0	0	0	0	T	195611811	C	T	195611811	3	4	407	1	0	0	0	0	1	0	0	0	16412	681	24	4	2885	4	TNK2	3	195611811	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	22845029	195611811	2410619	59	77652											
RGS12	6002	broad.mit.edu	37	chr4	3430357	3430357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggaaaaaatgctagggatCcccggctttcaaagagagaa	16	7	11	7	1	1	2	1	0	0	2	2	5	2	4	2	3	1	2	2	3	6	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:3430357C>A	ENST00000336727.3	+	16	4388	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	RGS12_ENST00000344733.5_Missense_Mutation_p.P1162T|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000382788.3_Missense_Mutation_p.P1162T|RGS12_ENST00000338806.4_Missense_Mutation_p.P514T|RGS12_ENST00000306648.7_Intron	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1162						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCTAGGGATCCCCGGCTTTC	0.338													11	52					3.86212e-05	4.03251e-05	1	0	A	3430357	C	A	3430357	3	1	407	1	0	0	0	0	1	0	0	0	13378	855	30	2	3600	2	RGS12	4	3430357	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		3430357	187723919	60	77653											
EVC2	132884	broad.mit.edu	37	chr4	5624391	5624391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtccctctcctccccctCcagctgctcggcccgtgcag	2	9	8	22	2	1	0	0	0	1	0	6	0	4	0	7	1	3	3	7	1	0	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:5624391C>T	ENST00000310917.2	-	14	2865	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	EVC2_ENST00000344938.1_Missense_Mutation_p.E792K|EVC2_ENST00000344408.5_Missense_Mutation_p.E792K	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	792						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCTCCCCCTCCAGCTGCTCG	0.652													9	55					0	0	0	0	T	5624391	C	T	5624391	3	4	407	1	0	0	0	0	1	0	0	0	5324	864	30	2	1588	2	EVC2	4	5624391	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	2194034	5624391	185529885	61	77654											
SHISA3	152573	broad.mit.edu	37	chr4	42403039	42403039	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccttttagagcctgtctaCgtcccctttctcatcgtcgg	4	15	8	14	3	2	1	1	0	2	1	6	1	3	1	4	1	3	0	4	1	2	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:42403039C>T	ENST00000319234.4	+	2	506	c.288C>T	c.(286-288)taC>taT	p.Y96Y		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	96					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						AGCCTGTCTACGTCCCCTTTC	0.498													25	194					0	0	0	0	T	42403039	C	T	42403039	2	4	407	1	0	0	0	0	0	0	0	1	14369	547	19	1		1	SHISA3	4	42403039	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	36778648	42403039	148751237	62	77655											
SLC4A4	8671	broad.mit.edu	37	chr4	72399993	72399993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaccgtttggagaaaaccCctggtgggtgtgccttgctg	6	11	13	11	1	0	1	0	0	0	1	1	2	1	1	5	3	3	2	5	3	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:72399993C>T	ENST00000340595.3	+	15	2394	c.2198C>T	c.(2197-2199)cCc>cTc	p.P733L	SLC4A4_ENST00000351898.6_Missense_Mutation_p.P777L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P777L|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P777L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	777						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAGAAAACCCCTGGTGGGTG	0.418													8	53					0	0	0	0	T	72399993	C	T	72399993	3	4	407	1	0	0	0	0	1	0	0	0	14744	623	22	4	2517	4	SLC4A4	4	72399993	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	29996954	72399993	118754283	63	77656											
NAAA	27163	broad.mit.edu	37	chr4	76861953	76861953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgtagtgccgcagcacGggcagccagcgcagctcggg	8	4	16	13	5	0	0	0	0	0	0	2	0	0	0	2	2	5	6	2	2	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:76861953G>A	ENST00000286733.4	-	1	251	c.150C>T	c.(148-150)ccC>ccT	p.P50P	NAAA_ENST00000399497.3_Silent_p.P50P|NAAA_ENST00000507187.2_Silent_p.P50P|NAAA_ENST00000507956.1_Silent_p.P50P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	50					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GCCGCAGCACGGGCAGCCAGC	0.736													3	41					0	0	0	0	A	76861953	G	A	76861953	2	1	407	1	0	0	0	0	0	0	0	1	10197	1103	39	1		1	NAAA	4	76861953	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	4461960	76861953	114292323	64	77657											
WDFY3	23001	broad.mit.edu	37	chr4	85664939	85664939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgagttcttgtagacCtttcaggggaagcctaatca	9	14	10	8	0	3	2	2	1	1	1	3	3	3	3	2	2	2	3	2	2	3	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:85664939C>G	ENST00000322366.6	-	37	6394	c.5987G>C	c.(5986-5988)aGg>aCg	p.R1996T	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1996T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1996						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTGTAGACCTTTCAGGGGA	0.323													23	31					0	0	0	0	G	85664939	C	G	85664939	3	3	407	1	0	0	0	0	1	0	0	0	17366	681	24	4	4721	4	WDFY3	4	85664939	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	8802986	85664939	105489337	65	77658											
GRID2	2895	broad.mit.edu	37	chr4	94145812	94145812	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcttctgcttgctaatgcTtttcataagaagctggagga	9	14	11	7	0	2	1	1	0	1	1	2	3	2	3	0	2	5	5	0	2	3	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:94145812T>A	ENST00000282020.4	+	7	1269	c.1011T>A	c.(1009-1011)gcT>gcA	p.A337A	GRID2_ENST00000510992.1_Silent_p.A242A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	337					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGCTAATGCTTTTCATAAGA	0.448													3	40					0	0	0	0	A	94145812	T	A	94145812	2	1	407	1	0	0	0	0	0	0	0	1	6822	1596	56	5		5	GRID2	4	94145812	Silent	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	8480873	94145812	97008464	66	77659											
BMPR1B	658	broad.mit.edu	37	chr4	96035912	96035912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatagaagaggatgactCtgggttgcctgtggtcactt	9	12	14	6	0	2	4	1	2	1	2	2	6	2	5	1	3	1	1	1	3	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:96035912C>G	ENST00000515059.1	+	5	468	c.185C>G	c.(184-186)tCt>tGt	p.S62C	BMPR1B_ENST00000264568.4_Missense_Mutation_p.S62C|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S92C|BMPR1B_ENST00000502683.1_Missense_Mutation_p.S62C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	62					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GAGGATGACTCTGGGTTGCCT	0.443													74	225					0	0	0	0	G	96035912	C	G	96035912	3	3	407	1	0	0	0	0	1	0	0	0	1475	913	32	2	191	2	BMPR1B	4	96035912	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1890100	96035912	95118364	67	77660											
CXXC4	80319	broad.mit.edu	37	chr4	105412166	105412166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcactgtctgtgacggctGctgaggctgctgcgggggag	5	8	18	10	3	1	2	0	2	1	0	1	3	1	3	0	4	3	5	0	4	0	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:105412166G>T	ENST00000394767.2	-	2	1244	c.794C>A	c.(793-795)gCa>gAa	p.A265E	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.A96E	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	96					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGTGACGGCTGCTGAGGCTGC	0.607													13	96					7.93312e-07	8.53411e-07	1	0	T	105412166	G	T	105412166	3	4	407	1	0	0	0	0	1	0	0	0	4130	1319	46	4	317	4	CXXC4	4	105412166	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	9376254	105412166	85742110	68	77661											
LEF1	51176	broad.mit.edu	37	chr4	109088724	109088724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcacctcgtgtccgttgCtggccgggatgatttcagac	5	11	12	13	4	2	2	2	1	0	1	4	3	3	3	3	2	1	3	3	2	0	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:109088724C>A	ENST00000379951.2	-	1	1388	c.200G>T	c.(199-201)aGc>aTc	p.S67I	LEF1_ENST00000438313.2_Missense_Mutation_p.S67I|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000265165.1_Missense_Mutation_p.S67I	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	67					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GTGTCCGTTGCTGGCCGGGAT	0.597													40	99					3.54561e-26	4.01176e-26	1	0	A	109088724	C	A	109088724	3	1	407	1	0	0	0	0	1	0	0	0	8767	797	28	4	1140	4	LEF1	4	109088724	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	3676558	109088724	82065552	69	77662											
FAT4	79633	broad.mit.edu	37	chr4	126239951	126239951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccacctgtattcagtcaGgttgcctacagctttgtggt	8	13	9	11	0	2	0	2	0	0	0	2	0	2	0	3	2	4	3	3	2	3	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:126239951G>C	ENST00000394329.3	+	1	2398	c.2385G>C	c.(2383-2385)caG>caC	p.Q795H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	795	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATTCAGTCAGGTTGCCTACA	0.448													16	105					0	0	0	0	C	126239951	G	C	126239951	3	2	407	1	0	0	0	0	1	0	0	0	5737	991	35	4	2387	4	FAT4	4	126239951	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	17151227	126239951	64914325	70	77663											
SMAD1	4086	broad.mit.edu	37	chr4	146460970	146460970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctagtacttcctcctgtgCtggttccaagacacagcgaa	9	12	8	12	1	1	1	0	0	1	1	4	2	4	1	3	1	3	3	3	1	4	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:146460970C>G	ENST00000515385.1	+	3	957	c.415C>G	c.(415-417)Ctg>Gtg	p.L139V	SMAD1_ENST00000394092.2_Missense_Mutation_p.L139V|SMAD1_ENST00000302085.4_Missense_Mutation_p.L139V			Q15797	SMAD1_HUMAN	SMAD family member 1	139					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TCCTCCTGTGCTGGTTCCAAG	0.393													5	33					0	0	0	0	G	146460970	C	G	146460970	3	3	407	1	0	0	0	0	1	0	0	0	14845	796	28	4	421	4	SMAD1	4	146460970	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	20221019	146460970	44693306	71	77664											
GRIA2	2891	broad.mit.edu	37	chr4	158233977	158233977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagttaaaaaaggaacggCgtgtaattctggactgtgaa	14	10	13	4	2	1	1	0	1	1	0	1	4	1	4	0	4	1	2	0	4	6	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:158233977C>T	ENST00000296526.7	+	4	941	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GRIA2_ENST00000393815.2_Missense_Mutation_p.R159C|GRIA2_ENST00000507898.1_Missense_Mutation_p.R159C|GRIA2_ENST00000264426.9_Missense_Mutation_p.R206C|GRIA2_ENST00000449365.1_Missense_Mutation_p.R159C	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	206					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAAGGAACGGCGTGTAATTCT	0.378													17	107					0	0	0	0	T	158233977	C	T	158233977	3	4	407	1	0	0	0	0	1	0	0	0	6818	768	27	1	630	1	GRIA2	4	158233977	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	11773007	158233977	32920299	72	77665											
SNX25	83891	broad.mit.edu	37	chr4	186274708	186274708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgggaggaaagacgccttgGctgaaccatgtttcatgttg	10	11	13	7	1	1	2	1	1	0	1	1	4	1	4	2	3	1	3	2	3	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:186274708G>A	ENST00000504273.1	+	15	2338	c.2044G>A	c.(2044-2046)Gct>Act	p.A682T	SNX25_ENST00000264694.8_Missense_Mutation_p.A682T|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	682					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGACGCCTTGGCTGAACCATG	0.418													28	99					0	0	0	0	A	186274708	G	A	186274708	3	1	407	1	0	0	0	0	1	0	0	0	14984	1203	42	4	2098	4	SNX25	4	186274708	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	28040731	186274708	4879568	73	77666											
SLC9A3	6550	broad.mit.edu	37	chr5	477500	477500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtggcgtgaagtccacGttgaccacgttgtcggtgct	6	11	14	10	5	0	2	0	2	0	0	3	3	1	2	2	2	1	3	2	2	1	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:477500G>A	ENST00000264938.3	-	11	1716	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.N560N|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	569						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAAGTCCACGTTGACCACGT	0.652													10	99					0	0	0	0	A	477500	G	A	477500	2	1	407	1	0	0	0	0	0	0	0	1	14801	1136	40	1		1	SLC9A3	5	477500	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08		477500	180437760	74	77667											
ADCY2	108	broad.mit.edu	37	chr5	7414795	7414795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttaagaagctgctgcGcctcttctcgttggtgatat	6	16	11	8	2	2	2	0	1	2	1	3	2	2	2	1	1	3	4	1	1	3	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:7414795G>A	ENST00000338316.4	+	2	409	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	107					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			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						AAGCTGCTGCGCCTCTTCTCG	0.488													17	84					0	0	0	0	A	7414795	G	A	7414795	3	1	407	1	0	0	0	0	1	0	0	0	294	1087	38	1	326	1	ADCY2	5	7414795	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	6937295	7414795	173500465	75	77668											
ADCY2	108	broad.mit.edu	37	chr5	7626323	7626323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catctgtgggaacctggcggGagcctaccataagcacctca	10	7	11	13	1	2	0	1	0	1	0	2	2	2	2	4	3	4	1	4	3	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:7626323G>C	ENST00000338316.4	+	4	703	c.614G>C	c.(613-615)gGa>gCa	p.G205A		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	205				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	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			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						AACCTGGCGGGAGCCTACCAT	0.443													45	159					0	0	0	0	C	7626323	G	C	7626323	3	2	407	1	0	0	0	0	1	0	0	0	294	1174	41	2	628	2	ADCY2	5	7626323	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	211528	7626323	173288937	76	77669											
FBXL7	23194	broad.mit.edu	37	chr5	15937094	15937094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctggagtgcctggccctGaactgcttcaacctcaagcg	7	8	12	14	1	2	1	2	1	0	0	2	2	2	2	4	3	5	1	4	3	3	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:15937094G>A	ENST00000504595.1	+	4	1756	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	FBXL7_ENST00000510662.1_Silent_p.L378L|FBXL7_ENST00000329673.7_Silent_p.L413L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	425					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCTGGCCCTGAACTGCTTCA	0.592													9	59					0	0	0	0	A	15937094	G	A	15937094	2	1	407	1	0	0	0	0	0	0	0	1	5769	1277	45	2		2	FBXL7	5	15937094	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	8310771	15937094	164978166	77	77670											
MARCH11	441061	broad.mit.edu	37	chr5	16177931	16177931	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcactgatccattttagcagGcacagctgatgtgtataccg	10	12	9	10	1	1	2	1	2	0	0	2	2	2	2	2	1	3	4	2	1	3	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:16177931G>T	ENST00000332432.8	-	2	796	c.597C>A	c.(595-597)tgC>tgA	p.C199*	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	199						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTTTAGCAGGCACAGCTGAT	0.433													5	59					1.23904e-05	1.30813e-05	1	0	T	16177931	G	T	16177931	4	4	407	1	0	0	0	0	0	1	0	0	9369	1195	42	4	623	4	MARCH11	5	16177931	Nonsense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	240837	16177931	164737329	78	77671											
TTC23L	153657	broad.mit.edu	37	chr5	34867132	34867132	+	Silent	SNP	G	G	A																															gaagctgctcagatagagcaGctgaggaggaaccacaacca																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:34867132G>A	ENST00000505624.1	+	7	901	c.798G>A	c.(796-798)caG>caA	p.Q266Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	266							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGATAGAGCAGCTGAGGAGGA	0.547													8	7					0	0	0	0	A	34867132	G	A	34867132	2	1	407	1	0	0	0	0	0	0	0	1	16787	962	34	4		4	TTC23L	5	34867132	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	18689201	34867132	146048128	79	77672	1034	2									
TTC23L	153657	broad.mit.edu	37	chr5	34867133	34867133	+	Silent	SNP	C	C	T																															aagctgctcagatagagcagCtgaggaggaaccacaaccag																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:34867133C>T	ENST00000505624.1	+	7	902	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	267							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATAGAGCAGCTGAGGAGGAA	0.547													8	7					0	0	0	0	T	34867133	C	T	34867133	2	4	407	1	0	0	0	0	0	0	0	1	16787	796	28	4		4	TTC23L	5	34867133	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1	34867133	146048127	80	77673	1034	2									
SKP2	6502	broad.mit.edu	37	chr5	36181968	36181968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactacaagtttttggaatCgtgccagatggtacccttca	11	12	8	10	1	1	1	1	0	0	1	2	2	1	2	2	2	3	2	2	2	4	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:36181968C>T	ENST00000274255.6	+	10	1306	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SKP2_ENST00000508514.1_Silent_p.I163I|SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Silent_p.I156I	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	370					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTTGGAATCGTGCCAGATG	0.408													54	73					0	0	0	0	T	36181968	C	T	36181968	2	4	407	1	0	0	0	0	0	0	0	1	14450	874	31	1		1	SKP2	5	36181968	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1314835	36181968	144733292	81	77674											
JMY	133746	broad.mit.edu	37	chr5	78585955	78585955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgaagatttccatggaGaatgattatctgggacctcg	10	13	10	8	1	2	4	0	2	2	2	5	6	3	5	2	2	0	0	2	2	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:78585955G>A	ENST00000396137.4	+	3	1680	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	406					'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			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)		TTTCCATGGAGAATGATTATC	0.348													12	64					0	0	0	0	A	78585955	G	A	78585955	2	1	407	1	0	0	0	0	0	0	0	1	8010	933	33	2		2	JMY	5	78585955	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	42403987	78585955	102329305	82	77675											
SLCO4C1	353189	broad.mit.edu	37	chr5	101599462	101599462	+	Silent	SNP	G	G	T																															tagccaatagcagggcctaaGattgacatagcataaccggt																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:101599462G>T	ENST00000310954.6	-	4	1111	c.825C>A	c.(823-825)atC>atA	p.I275I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	275					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAGGGCCTAAGATTGACATAG	0.368													22	95					3.6726e-16	4.10637e-16	1	0	T	101599462	G	T	101599462	2	4	407	1	0	0	0	0	0	0	0	1	14818	932	33	2		2	SLCO4C1	5	101599462	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	23013507	101599462	79315798	83	77676	1035	2									
SLCO4C1	353189	broad.mit.edu	37	chr5	101599463	101599463	+	Missense_Mutation	SNP	A	A	G																															agccaatagcagggcctaagAttgacatagcataaccggtt																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:101599463A>G	ENST00000310954.6	-	4	1110	c.824T>C	c.(823-825)aTc>aCc	p.I275T		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	275					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGGGCCTAAGATTGACATAGC	0.368													22	94					0	0	0	0	G	101599463	A	G	101599463	3	3	407	1	0	0	0	0	1	0	0	0	14818	333	12	5	1390	5	SLCO4C1	5	101599463	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	1	101599463	79315797	84	77677	1035	2									
SLC4A9	83697	broad.mit.edu	37	chr5	139740338	139740338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctagctcctctgcatctCtgctcctggacatgggagaa	7	11	9	14	0	2	1	0	0	2	1	6	3	5	2	3	2	3	3	3	2	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:139740338C>A	ENST00000230993.6	+	2	279	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Intron|SLC4A9_ENST00000507527.1_Missense_Mutation_p.L82M|SLC4A9_ENST00000506757.2_Intron	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	82						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGCATCTCTGCTCCTGGA	0.582													5	12					1.024e-07	1.10998e-07	1	0	A	139740338	C	A	139740338	3	1	407	1	0	0	0	0	1	0	0	0	14748	928	32	2		2	SLC4A9	5	139740338	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	38140875	139740338	41174922	85	77678											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754227	140754227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccatgggcccaagtacccgGagctggtgctggagggcaca	8	5	15	13	1	0	0	0	0	0	0	0	2	0	2	3	5	3	4	3	5	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:140754227G>C	ENST00000517434.1	+	1	577	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTACCCGGAGCTGGTGCT	0.592													3	20					0	0	0	0	C	140754227	G	C	140754227	3	2	407	1	0	0	0	0	1	0	0	0	11629	1175	41	2	579	2	PCDHGA6	5	140754227	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	1013889	140754227	40161033	86	77679											
SPINK1	6690	broad.mit.edu	37	chr5	147207631	147207631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgggataagtatttccatCagtcccacagacagggtcat	12	11	9	9	0	2	1	2	0	0	1	4	2	4	2	2	2	0	1	2	2	2	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:147207631C>T	ENST00000510027.2	-	3	205	c.148G>A	c.(148-150)Gat>Aat	p.D50N	SPINK1_ENST00000296695.5_Missense_Mutation_p.D50N			P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	50	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATTTCCATCAGTCCCACAG	0.323									Hereditary Pancreatitis				6	13					0	0	0	0	T	147207631	C	T	147207631	3	4	407	1	0	0	0	0	1	0	0	0	15147	826	29	2	99	2	SPINK1	5	147207631	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	6453404	147207631	33707629	87	77680											
NSD1	64324	broad.mit.edu	37	chr5	176675242	176675242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactgttgaggaaggtgtaGaacacgatcccgggatgcct	11	8	14	8	2	0	3	0	1	0	2	1	6	1	5	2	3	2	2	2	3	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:176675242G>A	ENST00000439151.2	+	11	4603	c.4558G>A	c.(4558-4560)Gaa>Aaa	p.E1520K	NSD1_ENST00000354179.4_Missense_Mutation_p.E1251K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1417K|NSD1_ENST00000347982.4_Missense_Mutation_p.E1251K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1520					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAAGGTGTAGAACACGATCC	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	34					0	0	0	0	A	176675242	G	A	176675242	3	1	407	1	0	0	0	0	1	0	0	0	10740	943	33	2	4596	2	NSD1	5	176675242	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	29467611	176675242	4240018	88	77681											
VARS	7407	broad.mit.edu	37	chr6	31747296	31747296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggcggcttctgcctcGgggtccttccaggagcactg	5	9	14	13	2	2	0	1	0	1	0	5	1	4	1	3	5	2	2	3	5	1	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:31747296G>A	ENST00000375663.3	-	28	3746	c.3306C>T	c.(3304-3306)ccC>ccT	p.P1102P		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1102					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTTCTGCCTCGGGGTCCTTCC	0.682													5	50					0	0	0	0	A	31747296	G	A	31747296	2	1	407	1	0	0	0	0	0	0	0	1	17219	1103	39	1		1	VARS	6	31747296	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08		31747296	139367771	89	77682											
EFHC1	114327	broad.mit.edu	37	chr6	52343897	52343897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttactttctagctaccgaCatgatcagtatctttgagcc	9	15	6	11	1	4	2	1	2	3	0	4	3	4	2	2	0	4	2	2	0	4	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:52343897C>T	ENST00000371068.5	+	8	1444	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	EFHC1_ENST00000538167.1_Silent_p.D428D|EFHC1_ENST00000433625.2_Silent_p.D356D	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	447	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TAGCTACCGACATGATCAGTA	0.433													25	155					0	0	0	0	T	52343897	C	T	52343897	2	4	407	1	0	0	0	0	0	0	0	1	4982	477	17	4		4	EFHC1	6	52343897	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	20596601	52343897	118771170	90	77683											
GCLC	2729	broad.mit.edu	37	chr6	53385621	53385621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcctgattttcttctaatAtagaagtagcctccttccgg	9	14	8	10	1	2	2	0	1	2	1	4	3	4	2	4	1	2	1	4	1	5	8			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:53385621A>G	ENST00000229416.6	-	3	884	c.401T>C	c.(400-402)aTa>aCa	p.I134T	GCLC_ENST00000514004.1_Missense_Mutation_p.I134T	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	134					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TTCTTCTAATATAGAAGTAGC	0.443													40	583					0	0	0	0	G	53385621	A	G	53385621	3	3	407	1	0	0	0	0	1	0	0	0	6344	449	16	5	1568	5	GCLC	6	53385621	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	1041724	53385621	117729446	91	77684											
COL19A1	1310	broad.mit.edu	37	chr6	70812083	70812083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgagggaaaacaggacCtcccggaaaaccaggacccc	16	1	11	13	2	0	1	0	0	0	1	1	6	1	5	5	4	2	0	5	4	5	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:70812083C>A	ENST00000322773.4	+	16	1349	c.1247C>A	c.(1246-1248)cCt>cAt	p.P416H	COL19A1_ENST00000393344.1_Missense_Mutation_p.P38H	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	416	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAACAGGACCTCCCGGAAAA	0.383													12	101					0.00185496	0.00188146	1	0	A	70812083	C	A	70812083	3	1	407	1	0	0	0	0	1	0	0	0	3706	681	24	4	1305	4	COL19A1	6	70812083	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	17426462	70812083	100302984	92	77685											
FAM135A	57579	broad.mit.edu	37	chr6	71195909	71195909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatatgagcgtcttctcaGaagaaaacagctacgaacac	15	8	7	11	2	2	3	1	1	2	2	3	4	2	3	1	0	5	1	1	0	7	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:71195909G>C	ENST00000370479.3	+	10	1252	c.734G>C	c.(733-735)aGa>aCa	p.R245T	FAM135A_ENST00000418814.2_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.R245T|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000505868.1_Intron|FAM135A_ENST00000505769.1_Intron			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	273										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CGTCTTCTCAGAAGAAAACAG	0.363													4	104					0	0	0	0	C	71195909	G	C	71195909	3	2	407	1	0	0	0	0	1	0	0	0	5489	942	33	2	893	2	FAM135A	6	71195909	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	383826	71195909	99919158	93	77686											
ZNF292	23036	broad.mit.edu	37	chr6	87966523	87966523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatgttaaaacatcatccaAtctttataatttacctctta	15	17	1	8	0	3	0	1	0	2	0	4	0	4	0	2	0	2	1	2	0	8	8			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:87966523A>G	ENST00000369577.3	+	8	3219	c.3176A>G	c.(3175-3177)aAt>aGt	p.N1059S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1054S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1059					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACATCATCCAATCTTTATAAT	0.348													33	50					0	0	0	0	G	87966523	A	G	87966523	3	3	407	1	0	0	0	0	1	0	0	0	17921	101	4	5	3206	5	ZNF292	6	87966523	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	16770614	87966523	83148544	94	77687											
MDN1	23195	broad.mit.edu	37	chr6	90353891	90353891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctttaaatatcggtaCtttaatgtccaagatagaat	14	14	7	6	1	0	2	0	0	0	2	3	2	2	2	2	2	1	1	2	2	8	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:90353891C>T	ENST00000369393.3	-	102	16739	c.16624G>A	c.(16624-16626)Gta>Ata	p.V5542I	MDN1_ENST00000428876.1_Missense_Mutation_p.V5542I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5542	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATATCGGTACTTTAATGTCC	0.408													5	134					0	0	0	0	T	90353891	C	T	90353891	3	4	407	1	0	0	0	0	1	0	0	0	9484	565	20	4	170	4	MDN1	6	90353891	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	2387368	90353891	80761176	95	77688											
EYA4	2070	broad.mit.edu	37	chr6	133703554	133703554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacgtgcacagaatcaGatgtttcacaatctcagaat	17	9	7	8	1	3	4	3	0	1	4	4	4	3	4	0	0	2	2	0	0	5	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:133703554G>T	ENST00000367895.5	+	3	522	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	EYA4_ENST00000431403.2_Missense_Mutation_p.D20Y|EYA4_ENST00000430974.2_Missense_Mutation_p.D20Y|EYA4_ENST00000531901.1_Missense_Mutation_p.D20Y|EYA4_ENST00000355286.6_Missense_Mutation_p.D20Y|EYA4_ENST00000525849.1_Missense_Mutation_p.D20Y|EYA4_ENST00000355167.3_Missense_Mutation_p.D20Y|EYA4_ENST00000452339.2_Missense_Mutation_p.D20Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	20					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CACAGAATCAGATGTTTCACA	0.378													19	113					0.000132079	0.000137401	1	0	T	133703554	G	T	133703554	3	4	407	1	0	0	0	0	1	0	0	0	5369	942	33	2	64	2	EYA4	6	133703554	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	43349663	133703554	37411513	96	77689											
PHACTR2	9749	broad.mit.edu	37	chr6	144086875	144086875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgggctgaagagccgaCgaacagaaccactctctact	11	9	9	12	2	2	3	0	1	2	2	3	5	2	3	2	1	4	1	2	1	4	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:144086875C>T	ENST00000427704.2	+	6	1269	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	PHACTR2_ENST00000440869.2_Missense_Mutation_p.T391M|PHACTR2_ENST00000305766.6_Missense_Mutation_p.T300M|PHACTR2_ENST00000367584.4_Missense_Mutation_p.T368M|PHACTR2_ENST00000367582.3_Missense_Mutation_p.T311M	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	380							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAAGAGCCGACGAACAGAACC	0.493													9	92					0	0	0	0	T	144086875	C	T	144086875	3	4	407	1	0	0	0	0	1	0	0	0	11882	536	19	1	1211	1	PHACTR2	6	144086875	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	10383321	144086875	27028192	97	77690											
GRM1	2911	broad.mit.edu	37	chr6	146720163	146720163	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacctccagcgcctctTggttggcctctcctctgcga	3	12	9	17	2	3	0	0	0	3	0	5	1	4	0	5	2	4	2	5	2	1	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:146720163T>A	ENST00000392299.2	+	8	2458	c.1988T>A	c.(1987-1989)tTg>tAg	p.L663*	GRM1_ENST00000507907.1_Nonsense_Mutation_p.L663*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.L663*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.L663*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.L663*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.L663*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	663					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGCGCCTCTTGGTTGGCCTC	0.522													77	241					0	0	0	0	A	146720163	T	A	146720163	4	1	407	1	0	0	0	0	0	1	0	0	6846	1821	63	5	2014	5	GRM1	6	146720163	Nonsense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	2633288	146720163	24394904	98	77691											
TTLL2	83887	broad.mit.edu	37	chr6	167754936	167754936	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttacggagcaggcacacGcctcacaagacactcatgcc	13	5	9	14	2	2	1	2	0	0	1	2	2	2	2	2	2	3	3	2	2	3	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:167754936G>C	ENST00000239587.5	+	3	1636	c.1548G>C	c.(1546-1548)acG>acC	p.T516T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	516					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCAGGCACACGCCTCACAAGA	0.577													17	98					0	0	0	0	C	167754936	G	C	167754936	2	2	407	1	0	0	0	0	0	0	0	1	16823	1074	38	3		3	TTLL2	6	167754936	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	21034773	167754936	3360131	99	77692											
MLLT4	4301	broad.mit.edu	37	chr6	168352811	168352811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacgaggaggaggaggacGatgatgtggacaccatgctg	12	6	17	6	2	0	2	0	2	0	0	0	9	0	7	1	5	1	1	1	5	0	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:168352811G>A	ENST00000366806.2	+	30	4898	c.4756G>A	c.(4756-4758)Gat>Aat	p.D1586N	MLLT4_ENST00000392112.1_Missense_Mutation_p.D1569N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1593N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1586N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1586N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1585N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1586N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1586	Asp/Glu-rich (acidic).				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ggaggaggacgatgatgtgga	0.587			T	MLL	AL								20	132					0	0	0	0	A	168352811	G	A	168352811	3	1	407	1	0	0	0	0	1	0	0	0	9698	1058	37	1	4870	1	MLLT4	6	168352811	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	597875	168352811	2762256	100	77693											
MLLT4	4301	broad.mit.edu	37	chr6	168366514	168366514	+	Frame_Shift_Del	DEL	G	G	-																															gacgaggcggcgcgcaggttGctggagcccgaggcgcccgg																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:168366514delG	ENST00000366806.2	+	32	5167	c.5025delG	c.(5023-5025)ttfs	p.L1676fs	MLLT4_ENST00000400822.3_Frame_Shift_Del_p.L1686fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.L1659fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.L1683fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.L1676fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1676					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGCGCAGGTTGCTGGAGCCCG	0.731			T	MLL	AL								2	4	---	---	---	---					-	168366514	G	-	168366514	7	5	407	1	0	1	0	1	0	0	0	0	9698	1310	46	0	5274	0	MLLT4	6	168366514	Frame_Shift_Del	DEL	G	TCGA-F7-A623-01A-11D-A28R-08	13703	168366514	2748553	101	77694											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539571	94539571	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaaacaaaagaaggtgAgggctcccagcagagcaggg	18	2	13	8	0	0	3	0	1	0	2	1	3	1	3	1	3	3	3	1	3	6	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:94539571A>C	ENST00000289495.5	+	1	362	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E49A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E49A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E49A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E49A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E49A	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	49	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAGAAGGTGAGGGCTCCCAG	0.458										HNSCC(28;0.073)			23	38					0	0	0	0	C	94539571	A	C	94539571	3	2	407	1	0	0	0	0	1	0	0	0	12454	304	11	5	148	5	PPP1R9A	7	94539571	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08		94539571	64599092	102	77695											
LMTK2	22853	broad.mit.edu	37	chr7	97780751	97780751	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacatacaggaaattggaaAtggctggtttggaaaggtaa	15	10	12	4	0	0	0	0	0	0	0	0	3	0	3	0	6	2	3	0	6	6	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:97780751A>C	ENST00000297293.5	+	4	727	c.434A>C	c.(433-435)aAt>aCt	p.N145T	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	145	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAAATTGGAAATGGCTGGTTT	0.378													35	61					0	0	0	0	C	97780751	A	C	97780751	3	2	407	1	0	0	0	0	1	0	0	0	8914	101	4	5	448	5	LMTK2	7	97780751	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	3241180	97780751	61357912	103	77696											
TRRAP	8295	broad.mit.edu	37	chr7	98552768	98552768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatggaagctcgagcgatCgtcagacaggcgatggccat	11	6	14	10	4	1	1	1	0	0	1	3	5	1	2	1	3	2	2	1	3	2	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:98552768C>T	ENST00000359863.4	+	40	5966	c.5757C>T	c.(5755-5757)atC>atT	p.I1919I	TRRAP_ENST00000355540.3_Silent_p.I1901I|TRRAP_ENST00000446306.3_Silent_p.I1900I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1919					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCGAGCGATCGTCAGACAGG	0.547													16	66					0	0	0	0	T	98552768	C	T	98552768	2	4	407	1	0	0	0	0	0	0	0	1	16696	874	31	1		1	TRRAP	7	98552768	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	772017	98552768	60585895	104	77697											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757677	99757677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacattcctcttggtcttgGgggctcaatccactccgaag	7	12	9	13	1	4	0	2	0	2	0	7	1	7	0	3	3	0	1	3	3	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:99757677G>A	ENST00000360039.4	-	4	1727	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	GAL3ST4_ENST00000426974.2_Silent_p.P383P|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Silent_p.P445P	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	445					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			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)					CTTGGTCTTGGGGGCTCAATC	0.557													21	121					0	0	0	0	A	99757677	G	A	99757677	2	1	407	1	0	0	0	0	0	0	0	1	6249	1219	43	4		4	GAL3ST4	7	99757677	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	1204909	99757677	59380986	105	77698											
ZNF277	11179	broad.mit.edu	37	chr7	111846846	111846846	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagctgcagcacagtcggGggtgtaggttatgggggtga	7	8	21	5	1	0	1	0	1	0	0	1	2	0	2	0	6	3	5	0	6	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:111846846G>T	ENST00000421043.1	+	1	95	c.75G>T	c.(73-75)ggG>ggT	p.G25G	ZNF277_ENST00000361822.3_Silent_p.G25G|ZNF277_ENST00000450657.1_Silent_p.G25G			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	25						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACAGTCGGGGGTGTAGGTT	0.607													7	85					0.0477658	0.0481045	1	0	T	111846846	G	T	111846846	2	4	407	1	0	0	0	0	0	0	0	1	17907	1219	43	4		4	ZNF277	7	111846846	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	12089169	111846846	47291817	106	77699											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651100	121651100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacagcacagcccgatgttgGatcaggcagagagagctttc	12	7	12	10	1	1	2	1	0	0	2	2	5	1	3	1	2	4	4	1	2	1	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:121651100G>A	ENST00000393386.2	+	12	2411	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G667E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	667					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						CCCGATGTTGGATCAGGCAGA	0.448													11	92					0	0	0	0	A	121651100	G	A	121651100	3	1	407	1	0	0	0	0	1	0	0	0	12896	1174	41	2	2046	2	PTPRZ1	7	121651100	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	9804254	121651100	37487563	107	77700											
CCDC136	64753	broad.mit.edu	37	chr7	128446756	128446756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccataggagttactgtgccgGctgcagaagctgcacctcca	9	8	11	13	1	0	1	0	0	0	1	1	2	1	2	4	2	5	5	4	2	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:128446756G>A	ENST00000297788.4	+	9	1630	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	CCDC136_ENST00000487361.1_Silent_p.R368R|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	421						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TACTGTGCCGGCTGCAGAAGC	0.562													6	41					0	0	0	0	A	128446756	G	A	128446756	2	1	407	1	0	0	0	0	0	0	0	1	2795	1190	42	4		4	CCDC136	7	128446756	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	6795656	128446756	30691907	108	77701											
ZNF746	155061	broad.mit.edu	37	chr7	149171666	149171666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggttgcgctggtgcttgcGgaggtggtccttgcggatga	4	12	18	7	3	0	1	0	1	0	0	1	3	1	3	1	6	4	3	1	6	0	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:149171666G>A	ENST00000340622.3	-	7	2024	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	ZNF746_ENST00000458143.2_Missense_Mutation_p.R583C			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	582					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGTGCTTGCGGAGGTGGTCC	0.682													4	33					0	0	0	0	A	149171666	G	A	149171666	3	1	407	1	0	0	0	0	1	0	0	0	18223	1116	39	1	194	1	ZNF746	7	149171666	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	20724910	149171666	9966997	109	77702											
MCPH1	79648	broad.mit.edu	37	chr8	6301914	6301914	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgttaatgttttccagAtgaatactttgctggtggct	7	17	9	8	1	1	2	0	1	1	1	3	2	2	2	2	2	2	4	2	2	3	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:6301914A>G	ENST00000344683.5	+	8	747	c.670_splice	c.e8-1	p.D224_splice	MCPH1_ENST00000519480.1_Splice_Site_p.D224_splice|MCPH1_ENST00000522905.1_Splice_Site_p.D176_splice	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	224						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGTTTTCCAGATGAATACTTT	0.338													6	37					0	0	0	0	G	6301914	A	G	6301914	5	3	407	1	0	0	0	0	0	0	1	0	9467	347	12	5	701	5	MCPH1	8	6301914	Splice_Site	SNP	A	TCGA-F7-A623-01A-11D-A28R-08		6301914	140062108	110	77703											
RP1L1	94137	broad.mit.edu	37	chr8	10470809	10470809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgtggcgtgctgcctggcgGagaccgcgaatggatcacac	7	6	15	13	5	1	1	1	0	0	1	1	4	1	2	3	4	2	1	3	4	1	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:10470809G>C	ENST00000382483.3	-	4	1022	c.799C>G	c.(799-801)Ccg>Gcg	p.P267A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	267					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGCCTGGCGGAGACCGCGAA	0.632													15	112					0	0	0	0	C	10470809	G	C	10470809	3	2	407	1	0	0	0	0	1	0	0	0	13618	1174	41	2	6407	2	RP1L1	8	10470809	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	4168895	10470809	135893213	111	77704											
DCTN6	10671	broad.mit.edu	37	chr8	30040633	30040633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgatgaaaatcttgccaAattaccaccacctaaagaag	16	10	5	10	0	2	3	0	2	2	1	2	3	2	3	4	0	2	0	4	0	7	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:30040633A>G	ENST00000221114.3	+	7	604	c.517A>G	c.(517-519)Aat>Gat	p.N173D		NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	173						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AATCTTGCCAAATTACCACCA	0.388													14	64					0	0	0	0	G	30040633	A	G	30040633	3	3	407	1	0	0	0	0	1	0	0	0	4343	14	1	5	543	5	DCTN6	8	30040633	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	19569824	30040633	116323389	112	77705											
NSMAF	8439	broad.mit.edu	37	chr8	59512352	59512352	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtcaaccatctgtccTccttgtctctttcccaaatc	7	14	4	16	2	3	0	1	0	2	0	9	0	6	0	4	0	1	0	4	0	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:59512352T>C	ENST00000038176.3	-	18	1622	c.1410A>G	c.(1408-1410)ggA>ggG	p.G470G	NSMAF_ENST00000427130.2_Silent_p.G501G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	470	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATCTGTCCTCCTTGTCTCT	0.443													28	81					0	0	0	0	C	59512352	T	C	59512352	2	2	407	1	0	0	0	0	0	0	0	1	10745	1538	54	5		5	NSMAF	8	59512352	Silent	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	29471719	59512352	86851670	113	77706											
MRPS28	28957	broad.mit.edu	37	chr8	80942442	80942442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaacactcgcagaaaatgGctctcggcagccacagcacg	14	4	10	13	3	1	2	0	0	1	2	3	2	1	2	1	2	3	4	1	2	3	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:80942442G>T	ENST00000276585.4	-	1	64	c.42C>A	c.(40-42)agC>agA	p.S14R	MRPS28_ENST00000521605.1_Missense_Mutation_p.S14R|MRPS28_ENST00000522987.1_5'UTR|TPD52_ENST00000537855.1_Intron	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	14						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			GCAGAAAATGGCTCTCGGCAG	0.597													5	71					1	1	1	0	T	80942442	G	T	80942442	3	4	407	1	0	0	0	0	1	0	0	0	9909	1194	42	4	533	4	MRPS28	8	80942442	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	21430090	80942442	65421580	114	77707											
SYBU	55638	broad.mit.edu	37	chr8	110587650	110587650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggctgggctgtagggcaCcacgtcggtctgaacggctc	6	8	16	11	3	1	1	0	1	1	0	3	2	1	1	1	5	1	5	1	5	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:110587650C>T	ENST00000399066.3	-	6	2195	c.1468G>A	c.(1468-1470)Gtg>Atg	p.V490M	SYBU_ENST00000276646.9_Missense_Mutation_p.V493M|SYBU_ENST00000528331.1_Missense_Mutation_p.V374M|SYBU_ENST00000446070.2_Missense_Mutation_p.V492M|SYBU_ENST00000424158.2_Missense_Mutation_p.V498M|SYBU_ENST00000529690.1_Missense_Mutation_p.V363M|SYBU_ENST00000533895.1_Missense_Mutation_p.V492M|SYBU_ENST00000422135.1_Missense_Mutation_p.V493M|SYBU_ENST00000433638.1_Missense_Mutation_p.V493M|SYBU_ENST00000440310.1_Missense_Mutation_p.V493M|SYBU_ENST00000408889.3_Missense_Mutation_p.V374M|SYBU_ENST00000533065.1_Missense_Mutation_p.V374M|SYBU_ENST00000528647.1_Missense_Mutation_p.V492M|SYBU_ENST00000529175.1_Missense_Mutation_p.V287M|SYBU_ENST00000408908.2_Missense_Mutation_p.V493M|SYBU_ENST00000532779.1_Missense_Mutation_p.V425M|SYBU_ENST00000533171.1_Missense_Mutation_p.V493M|SYBU_ENST00000419099.1_Missense_Mutation_p.V492M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	493						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGTAGGGCACCACGTCGGTC	0.622													20	165					0	0	0	0	T	110587650	C	T	110587650	3	4	407	1	0	0	0	0	1	0	0	0	15517	507	18	4	518	4	SYBU	8	110587650	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	29645208	110587650	35776372	115	77708											
CSMD3	114788	broad.mit.edu	37	chr8	113308161	113308161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggattacattgatatacaaCtgtgtctctatatccataat	14	15	5	7	0	1	1	0	1	1	0	3	2	2	2	1	1	3	0	1	1	7	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:113308161C>A	ENST00000297405.5	-	54	8759	c.8515G>T	c.(8515-8517)Gtt>Ttt	p.V2839F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V2670F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2769F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2799F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2839	Sushi 18.					integral to membrane|plasma membrane		p.V2839F(1)|p.V2799F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATATACAACTGTGTCTCTA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	37					0.000274275	0.000282225	1	0	A	113308161	C	A	113308161	3	1	407	1	0	0	0	0	1	0	0	0	3978	565	20	4	2680	4	CSMD3	8	113308161	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	2720511	113308161	33055861	116	77709											
COL22A1	169044	broad.mit.edu	37	chr8	139788209	139788209	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcagactataaatacCttttctcctcgagttccctt	9	15	6	11	1	1	2	0	1	1	1	4	3	2	2	3	0	2	2	3	0	4	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:139788209C>A	ENST00000303045.6	-	16	2249	c.1803_splice	c.e16+1	p.K601_splice	COL22A1_ENST00000435777.1_Splice_Site_p.K601_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	601	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTATAAATACCTTTTCTCCTC	0.478										HNSCC(7;0.00092)			11	159					5.50884e-06	5.85959e-06	1	0	A	139788209	C	A	139788209	5	1	407	1	0	0	0	0	0	0	1	0	3711	695	24	4	3277	4	COL22A1	8	139788209	Splice_Site	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	26480048	139788209	6575813	117	77710											
DOCK8	81704	broad.mit.edu	37	chr9	390521	390521	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtcagcaccggaatggtGagagaaacagtcttcaagta	13	8	13	7	1	3	2	2	1	1	1	3	4	3	3	1	3	2	2	1	3	4	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:390521G>A	ENST00000432829.2	+	24	3037	c.2721G>A	c.(2719-2721)gtG>gtA	p.V907V	DOCK8_ENST00000469391.1_Silent_p.V875V|DOCK8_ENST00000453981.1_Silent_p.V975V|DOCK8_ENST00000382331.1_Silent_p.V277V|DOCK8_ENST00000382329.1_Silent_p.V442V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	975					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCGGAATGGTGAGAGAAACAG	0.438													3	36					0	0	0	0	A	390521	G	A	390521	2	1	407	1	0	0	0	0	0	0	0	1	4729	1277	45	2		2	DOCK8	9	390521	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08		390521	140822910	118	77711											
HNRNPK	3190	broad.mit.edu	37	chr9	86586903	86586903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcctcgacgagggctcaTatcatcataatctcttctag	9	13	8	11	2	5	0	3	0	2	0	8	2	6	0	1	2	0	1	1	2	3	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:86586903T>C	ENST00000376263.3	-	11	1070	c.847A>G	c.(847-849)Atg>Gtg	p.M283V	HNRNPK_ENST00000376264.2_Missense_Mutation_p.M283V|HNRNPK_ENST00000351839.3_Missense_Mutation_p.M283V|HNRNPK_ENST00000360384.5_Missense_Mutation_p.M283V|HNRNPK_ENST00000376281.4_Missense_Mutation_p.M283V	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	283	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CGAGGGCTCATATCATCATAA	0.607													50	49					0	0	0	0	C	86586903	T	C	86586903	3	2	407	1	0	0	0	0	1	0	0	0	7319	1406	49	5	610	5	HNRNPK	9	86586903	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	86196382	86586903	54626528	119	77712											
CDC14B	8555	broad.mit.edu	37	chr9	99314080	99314080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcattcttatatttacctGaaaggaatataggatgtctc	13	15	6	7	0	3	1	1	1	2	0	4	3	3	3	1	2	1	0	1	2	7	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:99314080G>A	ENST00000375241.1	-	5	946	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CDC14B_ENST00000375242.3_Silent_p.F128F|CDC14B_ENST00000463569.1_Silent_p.F165F|CDC14B_ENST00000265659.2_Silent_p.F165F|CDC14B_ENST00000375236.1_Silent_p.F165F|CDC14B_ENST00000375240.3_Silent_p.F165F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	165	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				ATATTTACCTGAAAGGAATAT	0.323													4	34					0	0	0	0	A	99314080	G	A	99314080	2	1	407	1	0	0	0	0	0	0	0	1	3086	1281	45	2		2	CDC14B	9	99314080	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	12727177	99314080	41899351	120	77713											
KIF12	113220	broad.mit.edu	37	chr9	116857599	116857599	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctgtgggtccagcagcagGgagatgcagtgacctgggga	8	6	18	9	1	0	2	0	1	0	1	1	4	1	3	2	4	3	4	2	4	0	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:116857599G>A	ENST00000374118.3	-	7	732	c.495C>T	c.(493-495)tcC>tcT	p.S165S	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	298	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCAGCAGCAGGGAGATGCAGT	0.617													8	42					0	0	0	0	A	116857599	G	A	116857599	2	1	407	1	0	0	0	0	0	0	0	1	8324	1219	43	4		4	KIF12	9	116857599	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	17543519	116857599	24355832	121	77714											
TTC16	158248	broad.mit.edu	37	chr9	130487069	130487069	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaacctggcctttgcCgaggcggactaccagcaggc	7	6	14	14	2	0	0	0	0	0	0	0	2	0	1	4	5	4	2	4	5	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:130487069C>G	ENST00000373289.3	+	9	1232	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A	PTRH1_ENST00000419060.1_5'UTR|TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000429848.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	384							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGGCCTTTGCCGAGGCGGACT	0.687													4	18					0	0	0	0	G	130487069	C	G	130487069	2	3	407	1	0	0	0	0	0	0	0	1	16779	639	23	3		3	TTC16	9	130487069	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	13629470	130487069	10726362	122	77715											
ADAMTS13	11093	broad.mit.edu	37	chr9	136324160	136324160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtgctctactgggagtCagagagcagccaggctgaga	10	6	16	9	0	2	2	1	1	1	2	2	5	2	3	1	3	4	4	1	3	1	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:136324160C>T	ENST00000371929.3	+	29	4586	c.4142C>T	c.(4141-4143)tCa>tTa	p.S1381L	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.S177L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.S1294L|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.S1325L|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1381	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TACTGGGAGTCAGAGAGCAGC	0.627													4	26					0	0	0	0	T	136324160	C	T	136324160	3	4	407	1	0	0	0	0	1	0	0	0	258	838	29	2	4256	2	ADAMTS13	9	136324160	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	5837091	136324160	4889271	123	77716											
TUBB8	347688	broad.mit.edu	37	chr10	93288	93288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagacggctgtttttacGttgttggggagccagtcagc	7	12	13	9	2	2	1	2	0	0	1	2	2	2	2	1	3	3	4	1	3	1	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:93288G>A	ENST00000447903.2	-	4	1143	c.828C>T	c.(826-828)aaC>aaT	p.N276N	TUBB8_ENST00000309812.4_Silent_p.N348N			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	348					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTGTTTTTACGTTGTTGGGGA	0.493													18	184					0	0	0	0	A	93288	G	A	93288	2	1	407	1	0	0	0	0	0	0	0	1	16857	1136	40	1		1	TUBB8	10	93288	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08		93288	135441459	124	77717											
ARL5B	221079	broad.mit.edu	37	chr10	18957556	18957556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatgtgggatattggtGgtcaggagtctctgcgatca	7	15	13	6	1	4	0	2	0	2	0	5	3	4	2	0	4	1	0	0	4	2	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:18957556G>A	ENST00000377275.3	+	3	438	c.205G>A	c.(205-207)Ggt>Agt	p.G69S		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	69					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						GGATATTGGTGGTCAGGAGTC	0.373													9	75					0	0	0	0	A	18957556	G	A	18957556	3	1	407	1	0	0	0	0	1	0	0	0	944	1348	47	4	215	4	ARL5B	10	18957556	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	18864268	18957556	116577191	125	77718											
ITGB1	3688	broad.mit.edu	37	chr10	33200431	33200431	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctcacacgtttgcccttGaaacttcggatctgtacact	9	13	6	13	2	2	1	1	1	2	0	4	2	2	2	1	1	3	2	1	1	2	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:33200431G>A	ENST00000396033.2	-	13	2011	c.1876C>T	c.(1876-1878)Caa>Taa	p.Q626*	ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Q626*|ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Q626*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Q626*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	626	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GTTTGCCCTTGAAACTTCGGA	0.463													24	125					0	0	0	0	A	33200431	G	A	33200431	4	1	407	1	0	0	0	0	0	1	0	0	7943	1299	45	2	774	2	ITGB1	10	33200431	Nonsense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	14242875	33200431	102334316	126	77719											
ZNF33B	7582	broad.mit.edu	37	chr10	43127444	43127444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccttgttccagcctgaaGatcacctctggtttgtgagc	6	14	9	12	0	3	3	1	2	2	1	5	3	4	3	4	1	2	2	4	1	1	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:43127444G>C	ENST00000359467.3	-	4	297	c.183C>G	c.(181-183)atC>atG	p.I61M	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	61	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCAGCCTGAAGATCACCTCTG	0.453													43	247					0	0	0	0	C	43127444	G	C	43127444	3	2	407	1	0	0	0	0	1	0	0	0	17950	932	33	2	2161	2	ZNF33B	10	43127444	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	9927013	43127444	92407303	127	77720											
KIAA1279	26128	broad.mit.edu	37	chr10	70770669	70770673	+	Frame_Shift_Del	DEL	AGGAG	AGGAG	-																															attttagctcctgaagctgaAggagaagtgccagagcttta																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:70770669_70770673delAGGAG	ENST00000361983.4	+	6	990_994	c.888_892delAGGAG	c.(886-894)gaaafs	p.EGE296fs	KIAA1279_ENST00000481912.1_3'UTR	NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	296					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGAAGCTGAAGGAGAAGTGCCAGA	0.376													13	67	---	---	---	---					-	70770673	AGGAG	-	70770669	7	5	407	1	0	1	0	1	0	0	0	0	8272	69	3	0	910	0	KIAA1279	10	70770669	Frame_Shift_Del	DEL	AGGAG	TCGA-F7-A623-01A-11D-A28R-08	27643225	70770669	64764078	128	77721											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-																															tccattacatcacagtggggCtcctcctcctcctccttccc																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													9	369	---	---	---	---					-	81070789	CTC	-	81070787	7	5	407	1	0	1	0	1	0	0	0	0	17791	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-F7-A623-01A-11D-A28R-08	10300118	81070787	54463960	129	77722											
CPN1	1369	broad.mit.edu	37	chr10	101802265	101802265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actttggctctgactccgtgCcttctgctgggagctctcct	3	14	10	14	1	3	1	0	1	3	0	5	2	4	2	3	2	3	3	3	2	0	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:101802265C>T	ENST00000370418.3	-	9	1547	c.1296G>A	c.(1294-1296)agG>agA	p.R432R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	432					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TGACTCCGTGCCTTCTGCTGG	0.532													9	70					0	0	0	0	T	101802265	C	T	101802265	2	4	407	1	0	0	0	0	0	0	0	1	3839	738	26	4		4	CPN1	10	101802265	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	20731478	101802265	33732482	130	77723											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362870	105362870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggaggaggaagaggagGagcagcaagtggtgttgatg	13	5	21	2	0	0	2	0	1	0	1	0	8	0	8	0	7	2	3	0	7	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:105362870G>T	ENST00000369774.4	-	15	2381	c.2105C>A	c.(2104-2106)tCc>tAc	p.S702Y	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S537Y|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S674Y|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S569Y			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	702	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ggaagaggaggagCAGCAAGT	0.572													31	169					3.90053e-15	4.34412e-15	1	0	T	105362870	G	T	105362870	3	4	407	1	0	0	0	0	1	0	0	0	14344	1174	41	2	1300	2	SH3PXD2A	10	105362870	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	3560605	105362870	30171877	131	77724											
TDRD1	56165	broad.mit.edu	37	chr10	115978258	115978258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtggattatggaaacatCgaagaagttactgcagatga	14	12	11	4	1	0	3	0	1	0	2	1	6	0	5	0	2	3	2	0	2	5	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:115978258C>T	ENST00000251864.2	+	18	2562	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	TDRD1_ENST00000369280.1_Silent_p.I803I|TDRD1_ENST00000369282.1_Silent_p.I803I|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Silent_p.I407I	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	803	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATGGAAACATCGAAGAAGTTA	0.378													15	76					0	0	0	0	T	115978258	C	T	115978258	2	4	407	1	0	0	0	0	0	0	0	1	15824	874	31	1		1	TDRD1	10	115978258	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	10615388	115978258	19556489	132	77725											
CYP2E1	1571	broad.mit.edu	37	chr10	135350631	135350631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccctgccatcaaggatagGcaagagatgccctacatgga	13	7	10	11	0	1	1	1	0	0	1	2	4	2	3	3	3	3	1	3	3	4	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:135350631G>A	ENST00000463117.2	+	9	1304	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.R344R			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	344					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCAAGGATAGGCAAGAGATGC	0.512									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				12	99					0	0	0	0	A	135350631	G	A	135350631	2	1	407	1	0	0	0	0	0	0	0	1	4202	1194	42	4		4	CYP2E1	10	135350631	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	19372373	135350631	184116	133	77726											
SLC25A22	79751	broad.mit.edu	37	chr11	793596	793596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggccttctcgggggtgaCgagggtcaagttcacagcag	8	8	16	9	2	3	1	2	1	1	0	4	3	3	1	1	4	1	2	1	4	1	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:793596C>T	ENST00000320230.5	-	5	707	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	SLC25A22_ENST00000531214.1_Missense_Mutation_p.V76I	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	76						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TCGGGGGTGACGAGGGTCAAG	0.637													4	44					0	0	0	0	T	793596	C	T	793596	3	4	407	1	0	0	0	0	1	0	0	0	14573	536	19	1	769	1	SLC25A22	11	793596	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		793596	134212920	134	77727											
SBF2	81846	broad.mit.edu	37	chr11	10064486	10064486	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccacaaagaacgttggctGcttcctctctctggacagct	10	10	8	13	1	2	1	0	0	2	1	4	2	3	2	2	2	4	4	2	2	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:10064486G>A	ENST00000256190.8	-	3	321	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	62	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AACGTTGGCTGCTTCCTCTCT	0.388													12	38					0	0	0	0	A	10064486	G	A	10064486	4	1	407	1	0	0	0	0	0	1	0	0	13945	1328	46	4	5517	4	SBF2	11	10064486	Nonsense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	9270890	10064486	124942030	135	77728											
RAG1	5896	broad.mit.edu	37	chr11	36595444	36595444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtgaggtttacttccCgaggaacgtgaccatggagt	9	10	12	10	2	0	2	0	2	0	0	1	5	1	4	3	3	2	1	3	3	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:36595444C>T	ENST00000299440.5	+	2	702	c.590C>T	c.(589-591)cCg>cTg	p.P197L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	197	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTTTACTTCCCGAGGAACGTG	0.542									Familial Hemophagocytic Lymphohistiocytosis				6	55					0	0	0	0	T	36595444	C	T	36595444	3	4	407	1	0	0	0	0	1	0	0	0	13085	652	23	1	592	1	RAG1	11	36595444	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	26530958	36595444	98411072	136	77729											
OR5M8	219484	broad.mit.edu	37	chr11	56258788	56258788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagaatttgtaattccCggcgactggtcagtcccagg	10	9	13	9	2	1	2	1	0	0	2	3	4	3	2	2	4	0	1	2	4	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:56258788C>T	ENST00000327216.2	-	1	83	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGTAATTCCCGGCGACTGGT	0.483													17	130					0	0	0	0	T	56258788	C	T	56258788	3	4	407	1	0	0	0	0	1	0	0	0	11247	652	23	1	880	1	OR5M8	11	56258788	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	19663344	56258788	78747728	137	77730											
MS4A2	2206	broad.mit.edu	37	chr11	59857236	59857236	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagactattgaagtcggcctCatccccaccactgcatacat	11	9	6	15	1	1	2	1	1	0	1	3	2	2	2	4	1	2	1	4	1	3	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:59857236C>G	ENST00000278888.3	+	2	230	c.128C>G	c.(127-129)tCa>tGa	p.S43*		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	43					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAGTCGGCCTCATCCCCACCA	0.468													9	83					0	0	0	0	G	59857236	C	G	59857236	4	3	407	1	0	0	0	0	0	1	0	0	9930	838	29	2	134	2	MS4A2	11	59857236	Nonsense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	3598448	59857236	75149280	138	77731											
C11orf84	144097	broad.mit.edu	37	chr11	63594565	63594565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccacagttctgtcagaatCcagcaccactgtggcaggga	10	7	11	13	0	2	1	1	0	1	1	3	2	3	2	3	2	1	3	3	2	1	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:63594565C>T	ENST00000294244.4	+	6	1399	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	367										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGTCAGAATCCAGCACCACT	0.612													5	48					0	0	0	0	T	63594565	C	T	63594565	3	4	407	1	0	0	0	0	1	0	0	0	1678	855	30	2	1122	2	C11orf84	11	63594565	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	3737329	63594565	71411951	139	77732											
CCDC88B	283234	broad.mit.edu	37	chr11	64111800	64111800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaaggctggccgtagatCctctctccagagccctgcct	7	8	12	14	1	1	3	0	0	1	3	4	4	3	3	5	3	2	2	5	3	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:64111800C>A	ENST00000356786.5	+	14	1831	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	596					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCGTAGATCCTCTCTCCAG	0.642													16	77					3.52763e-06	3.78056e-06	1	0	A	64111800	C	A	64111800	3	1	407	1	0	0	0	0	1	0	0	0	2891	855	30	2	1841	2	CCDC88B	11	64111800	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	517235	64111800	70894716	140	77733											
CCDC88B	283234	broad.mit.edu	37	chr11	64112192	64112192	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccagtggtgtcgcagagCaggaggccctcagggaggag	8	5	19	9	1	1	1	1	0	0	1	2	4	1	4	2	6	1	2	2	6	0	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:64112192C>T	ENST00000356786.5	+	14	2223	c.2179C>T	c.(2179-2181)Cag>Tag	p.Q727*	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	727					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTCGCAGAGCAGGAGGCCCT	0.622													11	48					0	0	0	0	T	64112192	C	T	64112192	4	4	407	1	0	0	0	0	0	1	0	0	2891	711	25	4	2233	4	CCDC88B	11	64112192	Nonsense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	392	64112192	70894324	141	77734											
RNF121	55298	broad.mit.edu	37	chr11	71705773	71705773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctccttcagttctacagCgagtcgggcatgcctaccaa	9	11	8	13	2	3	0	1	0	2	0	5	1	3	0	3	1	4	2	3	1	3	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:71705773C>T	ENST00000361756.3	+	7	997	c.636C>T	c.(634-636)agC>agT	p.S212S	RNF121_ENST00000393713.3_Intron|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000545854.1_Silent_p.S131S|RNF121_ENST00000533380.1_Silent_p.S52S|RNF121_ENST00000530137.1_Silent_p.S180S	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	212						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGTTCTACAGCGAGTCGGGCA	0.488													77	81					0	0	0	0	T	71705773	C	T	71705773	2	4	407	1	0	0	0	0	0	0	0	1	13516	767	27	1		1	RNF121	11	71705773	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	7593581	71705773	63300743	142	77735											
TRPC6	7225	broad.mit.edu	37	chr11	101347265	101347265	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacattcagcccatatcatgCctgcatcagaaaggggttaa	13	10	8	10	0	3	1	3	0	0	1	3	1	3	1	2	2	4	2	2	2	4	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:101347265C>T	ENST00000344327.3	-	6	1935	c.1510_splice	c.e6-1	p.G504_splice	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Splice_Site_p.G388_splice|TRPC6_ENST00000360497.4_Splice_Site_p.G449_splice	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	504					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCATATCATGCCTGCATCAGA	0.373													10	49					0	0	0	0	T	101347265	C	T	101347265	5	4	407	1	0	0	0	0	0	0	1	0	16678	753	26	4	1316	4	TRPC6	11	101347265	Splice_Site	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	29641492	101347265	33659251	143	77736											
PDGFD	80310	broad.mit.edu	37	chr11	103797699	103797699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggacctccagttgacagTtccacagccacaatttcctc	10	9	7	15	0	0	1	0	1	0	0	4	2	3	2	5	1	1	3	5	1	1	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:103797699T>C	ENST00000302251.5	-	6	1361	c.910A>G	c.(910-912)Act>Gct	p.T304A	PDGFD_ENST00000393158.2_Missense_Mutation_p.T310A	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	310					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGTTGACAGTTCCACAGCCA	0.443													15	20					0	0	0	0	C	103797699	T	C	103797699	3	2	407	1	0	0	0	0	1	0	0	0	11731	1725	60	5	192	5	PDGFD	11	103797699	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	2450434	103797699	31208817	144	77737											
ATM	472	broad.mit.edu	37	chr11	108163425	108163425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtttgccagacagccGtgacttactgtaaggatgct	9	11	12	9	1	1	2	1	1	0	1	1	3	1	3	2	2	4	3	2	2	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:108163425G>A	ENST00000278616.4	+	30	4901	c.4516G>A	c.(4516-4518)Gtg>Atg	p.V1506M	ATM_ENST00000452508.2_Missense_Mutation_p.V1506M	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1506					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCAGACAGCCGTGACTTACTG	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			16	122					0	0	0	0	A	108163425	G	A	108163425	3	1	407	1	0	0	0	0	1	0	0	0	1113	1145	40	1	4630	1	ATM	11	108163425	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	4365726	108163425	26843091	145	77738											
MRPS35	60488	broad.mit.edu	37	chr12	27863859	27863859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attctccactgccgtctactCggccactccggtcccgacac	6	9	7	19	4	2	0	0	0	2	0	6	1	4	0	5	2	2	0	5	2	1	2	rs140355712		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:27863859C>G	ENST00000081029.3	+	1	154	c.83C>G	c.(82-84)tCg>tGg	p.S28W	MRPS35_ENST00000538315.1_Missense_Mutation_p.S28W	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	28					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GCCGTCTACTCGGCCACTCCG	0.642													5	66					0	0	0	0	G	27863859	C	G	27863859	3	3	407	1	0	0	0	0	1	0	0	0	9914	893	31	3	85	3	MRPS35	12	27863859	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		27863859	105988036	146	77739											
IPO8	10526	broad.mit.edu	37	chr12	30833559	30833559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataagaggttctctctcttCtgctttcttatatctacatg	8	19	5	9	0	5	1	0	0	5	1	7	1	5	1	0	1	2	2	0	1	5	8			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:30833559C>T	ENST00000256079.4	-	5	834	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	166					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTCTCTCTTCTGCTTTCTTA	0.318													24	49					0	0	0	0	T	30833559	C	T	30833559	3	4	407	1	0	0	0	0	1	0	0	0	7851	922	32	2	2701	2	IPO8	12	30833559	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	2969700	30833559	103018336	147	77740											
STAT2	6773	broad.mit.edu	37	chr12	56748400	56748400	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcatccagcacctccTgggaaagagataatgtgagt	12	8	13	8	0	0	2	0	1	0	1	2	5	2	4	3	3	1	2	3	3	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:56748400T>C	ENST00000314128.4	-	8	657		c.e8-2		STAT2_ENST00000418572.2_Splice_Site|STAT2_ENST00000557235.1_Splice_Site			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa						interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGCACCTCCTGGGAAAGAGA	0.527													12	101					0	0	0	0	C	56748400	T	C	56748400	5	2	407	1	0	0	0	0	0	0	1	0	15355	1594	55	5	1991	5	STAT2	12	56748400	Splice_Site	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	25914841	56748400	77103495	148	77741											
NAV3	89795	broad.mit.edu	37	chr12	78591042	78591042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggaattgcaacaatatCtagctaacctggctgaacag	17	8	8	8	0	1	1	0	1	1	0	1	2	1	2	1	2	5	3	1	2	9	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:78591042C>T	ENST00000397909.2	+	35	6480	c.6307C>T	c.(6307-6309)Cta>Tta	p.L2103L	NAV3_ENST00000536525.2_Silent_p.L2081L|NAV3_ENST00000266692.7_Silent_p.L1904L|NAV3_ENST00000228327.6_Silent_p.L2081L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2103						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAACAATATCTAGCTAACCT	0.348										HNSCC(70;0.22)			3	25					0	0	0	0	T	78591042	C	T	78591042	2	4	407	1	0	0	0	0	0	0	0	1	10255	912	32	2		2	NAV3	12	78591042	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	21842642	78591042	55260853	149	77742											
AKAP11	11215	broad.mit.edu	37	chr13	42877787	42877787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatctaggatttttcatctCagtgtccctcagattcatgt	10	16	6	9	0	5	1	4	0	2	1	7	2	6	2	1	1	0	0	1	1	2	4	rs138261350		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr13:42877787C>T	ENST00000025301.2	+	8	5080	c.4905C>T	c.(4903-4905)ctC>ctT	p.L1635L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1635					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTTTTCATCTCAGTGTCCCTC	0.433													15	78					0	0	0	0	T	42877787	C	T	42877787	2	4	407	1	0	0	0	0	0	0	0	1	447	813	29	2		2	AKAP11	13	42877787	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		42877787	72292091	150	77743											
NALCN	259232	broad.mit.edu	37	chr13	101735483	101735483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggccaggacgagtaatGcgattgtcctcttaaaaaat	13	10	10	8	2	1	0	0	0	1	0	2	3	2	1	2	2	1	1	2	2	4	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr13:101735483G>A	ENST00000251127.6	-	32	3731	c.3650C>T	c.(3649-3651)gCa>gTa	p.A1217V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1217						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACGAGTAATGCGATTGTCCT	0.423													5	55					0	0	0	0	A	101735483	G	A	101735483	3	1	407	1	0	0	0	0	1	0	0	0	10218	1319	46	4	1618	4	NALCN	13	101735483	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	58857696	101735483	13434395	151	77744											
TEP1	7011	broad.mit.edu	37	chr14	20848553	20848553	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggtactggctgaggattGaagcctgctgcctcaggaag	8	8	17	8	0	1	2	1	2	0	0	1	4	1	4	2	5	4	3	2	5	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:20848553G>C	ENST00000262715.5	-	34	4884	c.4844C>G	c.(4843-4845)tCa>tGa	p.S1615*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.S1507*|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1615					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCTGAGGATTGAAGCCTGCTG	0.597													23	84					0	0	0	0	C	20848553	G	C	20848553	4	2	407	1	0	0	0	0	0	1	0	0	15853	1294	45	2	3127	2	TEP1	14	20848553	Nonsense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08		20848553	86500987	152	77745											
RTN1	6252	broad.mit.edu	37	chr14	60076839	60076839	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgaatgaattgctttataCctggtagaaatggcatgccc	11	13	9	8	0	1	3	0	2	1	1	1	3	1	3	2	2	3	3	2	2	6	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:60076839C>G	ENST00000395090.1	-	2	275		c.e2+1		RTN1_ENST00000267484.5_Intron|RTN1_ENST00000557422.1_Intron|RTN1_ENST00000342503.4_Intron			Q16799	RTN1_HUMAN	reticulon 1						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGCTTTATACCTGGTAGAAA	0.458													4	12					0	0	0	0	G	60076839	C	G	60076839	5	3	407	1	0	0	0	0	0	0	1	0	13810	522	18	4		4	RTN1	14	60076839	Splice_Site	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	39228286	60076839	47272701	153	77746											
ZBTB1	22890	broad.mit.edu	37	chr14	64990072	64990072	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggaaagcagtttttaaGagagcgtcagttgcgactgc	11	11	13	6	2	1	1	1	0	0	1	1	4	1	2	0	1	4	3	0	1	2	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:64990072G>C	ENST00000358738.3	+	2	2241	c.1850G>C	c.(1849-1851)aGa>aCa	p.R617T	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.R617T|ZBTB1_ENST00000554015.1_Missense_Mutation_p.R617T	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAGTTTTTAAGAGAGCGTCAG	0.393													21	117					0	0	0	0	C	64990072	G	C	64990072	3	2	407	1	0	0	0	0	1	0	0	0	17617	942	33	2	1852	2	ZBTB1	14	64990072	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	4913233	64990072	42359468	154	77747											
MAP3K9	4293	broad.mit.edu	37	chr14	71202729	71202729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttaaaccattagctttcTcacgtctctgaggggatctt	9	15	7	10	1	3	1	1	1	3	0	5	2	3	2	1	2	3	1	1	2	4	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:71202729T>A	ENST00000554752.2	-	9	1861	c.1862A>T	c.(1861-1863)gAg>gTg	p.E621V	MAP3K9_ENST00000555993.2_Missense_Mutation_p.E621V|MAP3K9_ENST00000553414.1_Intron|MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000554146.1_Intron			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	621					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATTAGCTTTCTCACGTCTCTG	0.493													31	45					0	0	0	0	A	71202729	T	A	71202729	3	1	407	1	0	0	0	0	1	0	0	0	9326	1551	54	5	1514	5	MAP3K9	14	71202729	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	6212657	71202729	36146811	155	77748											
NPC2	10577	broad.mit.edu	37	chr14	74951163	74951163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttattcaggtagctataGgtcttgtctttttggatagg	8	18	11	4	0	3	0	1	0	2	0	3	1	3	1	0	4	1	3	0	4	5	10			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:74951163G>A	ENST00000541064.1	-	3	324	c.318C>T	c.(316-318)acC>acT	p.T106T	NPC2_ENST00000555619.1_Silent_p.T106T|NPC2_ENST00000557510.1_Silent_p.T106T|NPC2_ENST00000434013.2_Silent_p.T106T|NPC2_ENST00000238633.2_Silent_p.T106T			P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	106					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		GGTAGCTATAGGTCTTGTCTT	0.468													46	134					0	0	0	0	A	74951163	G	A	74951163	2	1	407	1	0	0	0	0	0	0	0	1	10642	987	35	4		4	NPC2	14	74951163	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	3748434	74951163	32398377	156	77749											
AMN	81693	broad.mit.edu	37	chr14	103390078	103390078	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtctccaaactctgggTccccaacacggacttcgacg	8	7	11	15	4	2	0	0	0	2	0	5	2	3	1	3	4	2	0	3	4	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:103390078T>G	ENST00000299155.5	+	2	107	c.74T>G	c.(73-75)gTc>gGc	p.V25G		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	25					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTCTGGGTCCCCAACACG	0.687													45	74					0	0	0	0	G	103390078	T	G	103390078	3	3	407	1	0	0	0	0	1	0	0	0	580	1667	58	5	80	5	AMN	14	103390078	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	28438915	103390078	3959462	157	77750											
MKRN3	7681	broad.mit.edu	37	chr15	23811187	23811187	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagcctggcccagtccGttgccaagccgaagcagcgg	8	4	16	13	3	0	0	0	0	0	0	1	3	1	2	5	4	5	2	5	4	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:23811187G>T	ENST00000314520.3	+	1	734	c.258G>T	c.(256-258)ccG>ccT	p.P86P	MKRN3_ENST00000568252.1_Silent_p.P86P|MKRN3_ENST00000564592.1_Silent_p.P86P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	86						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P86P(2)		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)		GGCCCAGTCCGTTGCCAAGCC	0.627													13	64					9.31168e-06	9.8676e-06	1	0	T	23811187	G	T	23811187	2	4	407	1	0	0	0	0	0	0	0	1	9677	1132	40	3		3	MKRN3	15	23811187	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08		23811187	78720205	158	77751											
CEP152	22995	broad.mit.edu	37	chr15	49097766	49097766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttaacaacttacctctttCtctctttcatagtcctcttc	7	20	1	13	0	5	0	1	0	4	0	8	0	6	0	2	0	3	0	2	0	4	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:49097766C>G	ENST00000380950.2	-	2	268	c.81G>C	c.(79-81)gaG>gaC	p.E27D	CEP152_ENST00000399334.3_Missense_Mutation_p.E27D|CEP152_ENST00000325747.5_Missense_Mutation_p.E27D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	27					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			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)		TTACCTCTTTCTCTCTTTCAT	0.353													8	29					0	0	0	0	G	49097766	C	G	49097766	3	3	407	1	0	0	0	0	1	0	0	0	3277	912	32	2	4983	2	CEP152	15	49097766	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	25286579	49097766	53433626	159	77752											
RORA	6095	broad.mit.edu	37	chr15	60849056	60849056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgtttcccctcaccattCatgtatccagtttgtacttc	7	16	6	12	0	2	0	2	0	0	0	5	1	4	1	4	1	1	4	4	1	2	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:60849056C>T	ENST00000261523.5	-	3	379	c.291G>A	c.(289-291)atG>atA	p.M97I	RORA_ENST00000335670.6_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000449337.2_Intron|RORA_ENST00000309157.4_Intron	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	97	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCTCACCATTCATGTATCCAG	0.428													13	100					0	0	0	0	T	60849056	C	T	60849056	3	4	407	1	0	0	0	0	1	0	0	0	13613	826	29	2	1419	2	RORA	15	60849056	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	11751290	60849056	41682336	160	77753											
VPS33B	26276	broad.mit.edu	37	chr15	91565451	91565451	+	Frame_Shift_Del	DEL	G	G	-																															tggagaagtcaggcagctcaGgggcgtccggccgatgggga																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:91565451delG	ENST00000333371.3	-	1	382	c.29delC	c.(28-30)ctfs	p.P10fs	VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Frame_Shift_Del_p.P10fs|VPS33B_ENST00000535843.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	10					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGCAGCTCAGGGGCGTCCGG	0.632													2	4	---	---	---	---					-	91565451	G	-	91565451	7	5	407	1	0	1	0	1	0	0	0	0	17298	1000	35	0	1916	0	VPS33B	15	91565451	Frame_Shift_Del	DEL	G	TCGA-F7-A623-01A-11D-A28R-08	30716395	91565451	10965941	161	77754											
UNKL	64718	broad.mit.edu	37	chr16	1453317	1453317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggtacttgcgttctgtgtCccccgtcgtccggtgcaggt	2	13	14	12	4	1	0	0	0	1	0	4	0	3	0	3	3	3	3	3	3	1	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:1453317C>T	ENST00000389221.4	-	3	315	c.316G>A	c.(316-318)Gac>Aac	p.D106N	UNKL_ENST00000397462.1_Missense_Mutation_p.D193N|UNKL_ENST00000508903.2_Missense_Mutation_p.D106N|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Missense_Mutation_p.D106N	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	106						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CGTTCTGTGTCCCCCGTCGTC	0.602													7	52					0	0	0	0	T	1453317	C	T	1453317	3	4	407	1	0	0	0	0	1	0	0	0	17097	855	30	2	1248	2	UNKL	16	1453317	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		1453317	88901436	162	77755											
PRSS21	10942	broad.mit.edu	37	chr16	2871026	2871026	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactctatgtgcaaccacctCttcctcaagtacagtttccg	10	12	5	14	1	3	0	1	0	2	0	5	0	5	0	4	0	4	3	4	0	5	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:2871026C>G	ENST00000455114.1	+	5	721	c.615C>G	c.(613-615)ctC>ctG	p.L205L	PRSS21_ENST00000450020.3_Silent_p.L207L|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Silent_p.L207L	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	207	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GCAACCACCTCTTCCTCAAGT	0.537													59	463					0	0	0	0	G	2871026	C	G	2871026	2	3	407	1	0	0	0	0	0	0	0	1	12697	900	32	2		2	PRSS21	16	2871026	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1417709	2871026	87483727	163	77756											
UBN1	29855	broad.mit.edu	37	chr16	4908075	4908075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgaaaatttgaagaaaaaTacgtaagatttctctcttga	16	12	6	7	2	2	4	0	2	2	2	3	5	2	4	1	0	1	1	1	0	7	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:4908075T>C	ENST00000396658.4	+	2	1037	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	UBN1_ENST00000262376.6_Missense_Mutation_p.Y112H|UBN1_ENST00000590769.1_Missense_Mutation_p.Y112H|UBN1_ENST00000545171.1_Missense_Mutation_p.Y112H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	112	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAAGAAAAATACGTAAGATT	0.378													7	49					0	0	0	0	C	4908075	T	C	4908075	3	2	407	1	0	0	0	0	1	0	0	0	16988	1406	49	5	340	5	UBN1	16	4908075	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	2037049	4908075	85446678	164	77757											
SNX29	92017	broad.mit.edu	37	chr16	12223508	12223508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcgaaacctgctcgaCggtgagatggagcactcagc	10	7	12	12	3	2	1	2	1	0	1	3	5	2	2	1	2	5	2	1	2	1	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:12223508C>T	ENST00000566228.1	+	13	1557	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	SNX29_ENST00000306030.3_Silent_p.D111D|SNX29_ENST00000323433.4_Silent_p.D111D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	111					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACCTGCTCGACGGTGAGATGG	0.587													9	17					0	0	0	0	T	12223508	C	T	12223508	2	4	407	1	0	0	0	0	0	0	0	1	14986	535	19	1		1	SNX29	16	12223508	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	7315433	12223508	78131245	165	77758											
KIAA0430	9665	broad.mit.edu	37	chr16	15728665	15728665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgccaataacaacgtggtctCcttccctgttcctttggttc	6	14	7	14	2	1	0	0	0	1	0	5	0	3	0	4	2	2	2	4	2	3	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:15728665C>T	ENST00000396368.3	-	4	1161	c.955G>A	c.(955-957)Gag>Aag	p.E319K	KIAA0430_ENST00000344181.3_Missense_Mutation_p.E141K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E319K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E319K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	318						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AACGTGGTCTCCTTCCCTGTT	0.433													25	170					0	0	0	0	T	15728665	C	T	15728665	3	4	407	1	0	0	0	0	1	0	0	0	8228	864	30	2	4372	2	KIAA0430	16	15728665	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	3505157	15728665	74626088	166	77759											
MYH11	4629	broad.mit.edu	37	chr16	15844038	15844038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgcacgaagttgggcGtggtgttgcgtagcgtggtc	5	10	18	8	5	0	0	0	0	0	0	1	1	0	0	0	3	4	5	0	3	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:15844038G>A	ENST00000338282.6	-	16	2121	c.2015C>T	c.(2014-2016)aCg>aTg	p.T672M	MYH11_ENST00000452625.2_Missense_Mutation_p.T679M|MYH11_ENST00000396324.3_Missense_Mutation_p.T679M|MYH11_ENST00000300036.5_Missense_Mutation_p.T672M|MYH11_ENST00000576790.1_Missense_Mutation_p.T672M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	672	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T672M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAAGTTGGGCGTGGTGTTGCG	0.647			T	CBFB	AML								14	124					0	0	0	0	A	15844038	G	A	15844038	3	1	407	1	0	0	0	0	1	0	0	0	10101	1145	40	1	4042	1	MYH11	16	15844038	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	115373	15844038	74510715	167	77760											
KIAA0556	23247	broad.mit.edu	37	chr16	27720176	27720176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctttatgtgtcgccccacGatgtggatatccggaacaca	10	10	10	11	3	0	0	0	0	0	0	2	3	1	2	3	2	2	1	3	2	3	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:27720176G>A	ENST00000261588.4	+	13	1559	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000568831.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	514										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCGCCCCACGATGTGGATAT	0.557													10	104					0	0	0	0	A	27720176	G	A	27720176	3	1	407	1	0	0	0	0	1	0	0	0	8234	1058	37	1	1590	1	KIAA0556	16	27720176	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	11876138	27720176	62634577	168	77761											
DCTPP1	79077	broad.mit.edu	37	chr16	30440485	30440485	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaactcagcatggaggcgGcggctgaaataggacaaagg	14	4	15	8	2	1	1	1	1	0	0	1	3	1	3	0	6	2	3	0	6	4	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:30440485G>T	ENST00000319285.4	-	2	199	c.105C>A	c.(103-105)cgC>cgA	p.R35R	ZNF771_ENST00000566625.1_3'UTR|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000568434.1_5'UTR|DCTPP1_ENST00000567983.1_Intron|DCTPP1_ENST00000568973.1_5'UTR	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	35					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						CATGGAGGCGGCGGCTGAAAT	0.592													28	109					2.44723e-14	2.70433e-14	1	0	T	30440485	G	T	30440485	2	4	407	1	0	0	0	0	0	0	0	1	4344	1190	42	4		4	DCTPP1	16	30440485	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2720309	30440485	59914268	169	77762											
SEPHS2	22928	broad.mit.edu	37	chr16	30456191	30456191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggcttcctgataggcCagctccacctcttctctgga	8	11	8	14	0	2	1	0	1	2	0	5	2	4	2	4	3	2	2	4	3	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:30456191C>T	ENST00000478753.2	-	1	1311	c.858G>A	c.(856-858)ctG>ctA	p.L286L	SEPHS2_ENST00000500504.2_Silent_p.L286L|SEPHS2_ENST00000542752.1_Silent_p.L229L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	286					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCTGATAGGCCAGCTCCACCT	0.483													11	132					0	0	0	0	T	30456191	C	T	30456191	2	4	407	1	0	0	0	0	0	0	0	1	14142	581	21	4		4	SEPHS2	16	30456191	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	15706	30456191	59898562	170	77763											
DPEP3	64180	broad.mit.edu	37	chr16	68014180	68014180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccggcgtggtctccgcgCgggttacgggctgccgcagc	2	6	17	16	8	1	0	0	0	1	0	2	0	1	0	3	4	3	3	3	4	1	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:68014180C>T	ENST00000268793.4	-	1	552	c.179G>A	c.(178-180)cGc>cAc	p.R60H	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	35					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGTCTCCGCGCGGGTTACGGG	0.746													6	20					0	0	0	0	T	68014180	C	T	68014180	3	4	407	1	0	0	0	0	1	0	0	0	4751	768	27	1	1402	1	DPEP3	16	68014180	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	37557989	68014180	22340573	171	77764											
HYDIN	54768	broad.mit.edu	37	chr16	70841729	70841729	+	Silent	SNP	G	G	A																															tagaagacattcttgaagggGatgattatgctgtacccggc																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:70841729G>A	ENST00000393567.2	-	86	15270	c.15120C>T	c.(15118-15120)atC>atT	p.I5040I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5040										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTTGAAGGGGATGATTATGC	0.547													23	75					0	0	0	0	A	70841729	G	A	70841729	2	1	407	1	0	0	0	0	0	0	0	1	7520	1164	41	2		2	HYDIN	16	70841729	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2827549	70841729	19513024	172	77765	1036	2									
HYDIN	54768	broad.mit.edu	37	chr16	70841732	70841732	+	Silent	SNP	G	G	T																															aagacattcttgaaggggatGattatgctgtacccggctcg																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:70841732G>T	ENST00000393567.2	-	86	15267	c.15117C>A	c.(15115-15117)atC>atA	p.I5039I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5039										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAAGGGGATGATTATGCTGT	0.547													24	77					5.35356e-11	5.84773e-11	1	0	T	70841732	G	T	70841732	2	4	407	1	0	0	0	0	0	0	0	1	7520	1280	45	2		2	HYDIN	16	70841732	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	3	70841732	19513021	173	77766	1036	2									
ZZEF1	23140	broad.mit.edu	37	chr17	3937554	3937554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacatgagtggaaggacGtgctccaggtctatcagggg	11	8	15	7	1	2	2	1	2	1	0	3	4	3	4	1	5	2	1	1	5	3	1	rs139607519		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:3937554G>A	ENST00000381638.2	-	40	6463	c.6339C>T	c.(6337-6339)caC>caT	p.H2113H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2113							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGGAAGGACGTGCTCCAGGT	0.478													13	48					0	0	0	0	A	3937554	G	A	3937554	2	1	407	1	0	0	0	0	0	0	0	1	18346	1136	40	1		1	ZZEF1	17	3937554	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08		3937554	77257656	174	77767											
TP53	7157	broad.mit.edu	37	chr17	7579419	7579420	+	Frame_Shift_Ins	INS	-	-	GG																															gaagatgacaggggccaggaINSgggggctggtgcaggggccg																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:7579419_7579420insGG	ENST00000420246.2	-	4	399_400	c.267_268insCC	c.(265-270)cccctgfs	p.L90fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.L90fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.L90fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L90fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L90fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L90fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	90	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.A88fs*52(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		AGGGGCCAGGAGGGGGCTGGTG	0.629		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)			47	66	---	---	---	---					GG	7579420	-	GG	7579419	7	5	407	1	0	1	1	0	0	0	0	0	16476	304	11	0	1034	0	TP53	17	7579419	Frame_Shift_Ins	INS	-	TCGA-F7-A623-01A-11D-A28R-08	3641865	7579419	73615791	175	77768											
WIPF2	147179	broad.mit.edu	37	chr17	38420826	38420826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatctgccgccagcgggcGtcctcaggatgatacagaca	10	7	12	12	3	2	2	1	1	1	1	3	3	3	3	3	2	3	1	3	2	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:38420826G>A	ENST00000323571.4	+	5	638	c.398G>A	c.(397-399)cGt>cAt	p.R133H	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.R133H|WIPF2_ENST00000583130.1_Missense_Mutation_p.R133H	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	133						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GCCAGCGGGCGTCCTCAGGAT	0.592										HNSCC(43;0.11)			124	173					0	0	0	0	A	38420826	G	A	38420826	3	1	407	1	0	0	0	0	1	0	0	0	17464	1145	40	1	412	1	WIPF2	17	38420826	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	30841407	38420826	42774384	176	77769											
TNS4	84951	broad.mit.edu	37	chr17	38636060	38636060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctccagtcagggtctcCacgctcactgagctcaggta	8	8	12	13	1	4	1	3	1	1	0	6	1	5	1	2	3	1	4	2	3	1	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:38636060C>T	ENST00000254051.6	-	10	1934	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	592	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCAGGGTCTCCACGCTCACTG	0.647													5	42					0	0	0	0	T	38636060	C	T	38636060	2	4	407	1	0	0	0	0	0	0	0	1	16439	581	21	4		4	TNS4	17	38636060	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	215234	38636060	42559150	177	77770											
CNTD1	124817	broad.mit.edu	37	chr17	40958810	40958810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgagggcttcaattgaGaactccactcccagtcagct	9	11	9	12	0	2	2	2	2	0	1	4	3	4	2	2	1	2	3	2	1	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:40958810G>A	ENST00000588408.1	+	5	975	c.699G>A	c.(697-699)gaG>gaA	p.E233E	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Silent_p.E150E	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	233										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAATTGAGAACTCCACTC	0.522													42	36					0	0	0	0	A	40958810	G	A	40958810	2	1	407	1	0	0	0	0	0	0	0	1	3665	933	33	2		2	CNTD1	17	40958810	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2322750	40958810	40236400	178	77771											
HEXDC	284004	broad.mit.edu	37	chr17	80391643	80391643	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgggcgccatgattgAccaggtcctggagctacacc	7	8	14	12	1	0	2	0	2	0	0	1	3	1	3	4	4	2	2	4	4	1	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80391643A>T	ENST00000337014.6	+	5	866	c.392A>T	c.(391-393)gAc>gTc	p.D131V	HEXDC_ENST00000577944.1_Missense_Mutation_p.D131V|HEXDC_ENST00000327949.9_Missense_Mutation_p.D131V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	131					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCATGATTGACCAGGTCCTG	0.662													34	55					0	0	0	0	T	80391643	A	T	80391643	3	4	407	1	0	0	0	0	1	0	0	0	7125	275	10	5	406	5	HEXDC	17	80391643	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	39432833	80391643	803567	179	77772											
FOXK2	3607	broad.mit.edu	37	chr17	80477919	80477919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtatctgatgaagaagcGctcggtgaccatcggccgca	10	7	13	11	5	1	4	0	3	1	1	3	5	1	4	2	2	1	3	2	2	3	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80477919G>A	ENST00000335255.5	+	1	329	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	52	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ATGAAGAAGCGCTCGGTGACC	0.741													37	52					0	0	0	0	A	80477919	G	A	80477919	3	1	407	1	0	0	0	0	1	0	0	0	6062	1087	38	1	157	1	FOXK2	17	80477919	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	86276	80477919	717291	180	77773			1	117		2	2	14	N	G_C	9.280285e-05
FOXK2	3607	broad.mit.edu	37	chr17	80477932	80477932	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcgctcggtgaccatCggccgcaactcgtcgcaggg	9	5	14	13	6	0	2	0	1	0	1	4	2	0	2	2	3	2	3	2	3	3	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80477932C>A	ENST00000335255.5	+	1	342	c.168C>A	c.(166-168)atC>atA	p.I56I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	56	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CGGTGACCATCGGCCGCAACT	0.741													6	83					0.0293803	0.029694	1	0	A	80477932	C	A	80477932	2	1	407	1	0	0	0	0	0	0	0	1	6062	874	31	3		3	FOXK2	17	80477932	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	13	80477932	717278	181	77774			1	117		2	2	14	N	G_C	9.280285e-05
CEP192	55125	broad.mit.edu	37	chr18	13055883	13055883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaagttccatttcagaaTagaggaaaaggaacattatc	19	9	8	5	0	1	2	1	0	0	2	3	5	2	4	1	2	1	1	1	2	8	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:13055883T>C	ENST00000506447.1	+	19	3374	c.3294T>C	c.(3292-3294)aaT>aaC	p.N1098N	CEP192_ENST00000430049.2_Silent_p.N623N|CEP192_ENST00000325971.8_Silent_p.N502N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	693										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATTTCAGAATAGAGGAAAAG	0.383													9	67					0	0	0	0	C	13055883	T	C	13055883	2	2	407	1	0	0	0	0	0	0	0	1	3280	1403	49	5		5	CEP192	18	13055883	Silent	SNP	T	TCGA-F7-A623-01A-11D-A28R-08		13055883	65021365	182	77775											
POTEC	388468	broad.mit.edu	37	chr18	14542642	14542642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcttttgcttgtccctCttgttcatgtccgtgtccct	2	19	6	14	1	3	0	1	0	2	0	6	0	6	0	4	0	2	2	4	0	1	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:14542642C>T	ENST00000358970.5	-	1	503	c.504G>A	c.(502-504)aaG>aaA	p.K168K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	168										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCTTGTCCCTCTTGTTCATGT	0.597													18	176					0	0	0	0	T	14542642	C	T	14542642	2	4	407	1	0	0	0	0	0	0	0	1	12334	912	32	2		2	POTEC	18	14542642	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1486759	14542642	63534606	183	77776											
ZNF521	25925	broad.mit.edu	37	chr18	22804911	22804911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcatcttgcaaatccGgcagtttccagtatcaagac	12	9	10	10	1	2	2	1	0	1	2	4	3	4	2	2	2	1	5	2	2	3	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:22804911G>A	ENST00000361524.3	-	4	3119	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	ZNF521_ENST00000584787.1_Missense_Mutation_p.R771W|ZNF521_ENST00000538137.2_Missense_Mutation_p.R991W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	991					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGCAAATCCGGCAGTTTCCA	0.478			T	PAX5	ALL								18	39					0	0	0	0	A	22804911	G	A	22804911	3	1	407	1	0	0	0	0	1	0	0	0	18060	1115	39	1	984	1	ZNF521	18	22804911	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	8262269	22804911	55272337	184	77777											
ZNF407	55628	broad.mit.edu	37	chr18	72345759	72345759	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgaagggggtagcctTgaagctggtaaaaagaatgc	12	7	15	7	0	0	3	0	2	0	1	0	3	0	3	2	4	3	3	2	4	7	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:72345759T>C	ENST00000299687.5	+	1	2784	c.2784T>C	c.(2782-2784)ctT>ctC	p.L928L	ZNF407_ENST00000309902.6_Silent_p.L928L|ZNF407_ENST00000577538.1_Silent_p.L928L|ZNF407_ENST00000582337.1_Silent_p.L928L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGGTAGCCTTGAAGCTGGTA	0.463													29	45					0	0	0	0	C	72345759	T	C	72345759	2	2	407	1	0	0	0	0	0	0	0	1	17982	1799	63	5		5	ZNF407	18	72345759	Silent	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	49540848	72345759	5731489	185	77778											
OR7E24	26648	broad.mit.edu	37	chr19	9362147	9362147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctatgaccggtttgtggCcatctgtcaccccctgcact	5	11	10	15	1	2	1	1	1	1	0	2	1	2	1	5	3	1	2	5	3	1	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:9362147C>A	ENST00000456448.1	+	1	542	c.428C>A	c.(427-429)gCc>gAc	p.A143D		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CGGTTTGTGGCCATCTGTCAC	0.458													13	44					0.000219431	0.00022744	1	0	A	9362147	C	A	9362147	3	1	407	1	0	0	0	0	1	0	0	0	11292	739	26	4	430	4	OR7E24	19	9362147	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		9362147	49766836	186	77779											
ILF3	3609	broad.mit.edu	37	chr19	10781785	10781785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgctcaaagctgtgtccGactggatagacgagcaggaa	11	6	15	9	3	1	1	1	0	0	1	2	5	2	3	1	3	2	3	1	3	3	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:10781785G>A	ENST00000449870.1	+	3	456	c.139G>A	c.(139-141)Gac>Aac	p.D47N	ILF3_ENST00000592763.1_Missense_Mutation_p.D47N|ILF3_ENST00000420083.1_Missense_Mutation_p.D47N|ILF3_ENST00000589998.1_Missense_Mutation_p.D47N|ILF3_ENST00000250241.8_Missense_Mutation_p.D47N|ILF3_ENST00000590261.1_Missense_Mutation_p.D47N|ILF3_ENST00000588657.1_Missense_Mutation_p.D47N|ILF3_ENST00000318511.3_Missense_Mutation_p.D47N|ILF3_ENST00000407004.3_Missense_Mutation_p.D47N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	47					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.D47N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGCTGTGTCCGACTGGATAGA	0.552													6	52					0	0	0	0	A	10781785	G	A	10781785	3	1	407	1	0	0	0	0	1	0	0	0	7765	1058	37	1	145	1	ILF3	19	10781785	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	1419638	10781785	48347198	187	77780											
ZNF708	7562	broad.mit.edu	37	chr19	21477199	21477199	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggtttttctccagtaTgaattatctcatgttgagtt	8	19	9	5	0	2	2	1	2	2	0	4	2	2	2	1	1	0	5	1	1	4	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:21477199T>G	ENST00000356929.3	-	4	766	c.569A>C	c.(568-570)cAt>cCt	p.H190P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTCTCCAGTATGAATTATCTC	0.333													5	41					0	0	0	0	G	21477199	T	G	21477199	3	3	407	1	0	0	0	0	1	0	0	0	18207	1464	51	5	1126	5	ZNF708	19	21477199	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	10695414	21477199	37651784	188	77781											
ZNF257	113835	broad.mit.edu	37	chr19	22271902	22271902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcataccttattcgacataaGataattcatactggagagaa	16	12	6	7	1	2	2	2	0	0	2	3	5	2	3	1	1	2	0	1	1	6	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:22271902G>A	ENST00000594947.1	+	4	1494	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	450				K -> E (in Ref. 1; AAD20957).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCGACATAAGATAATTCATA	0.393													4	31					0	0	0	0	A	22271902	G	A	22271902	2	1	407	1	0	0	0	0	0	0	0	1	17895	933	33	2		2	ZNF257	19	22271902	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	794703	22271902	36857081	189	77782											
TSHZ3	57616	broad.mit.edu	37	chr19	31767794	31767794	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacggggtggccagtgtccaAgtttttgaggaactttgttc	7	13	14	7	1	0	1	0	1	0	0	2	3	1	2	2	4	1	2	2	4	2	4	rs145002178		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:31767794A>T	ENST00000240587.4	-	2	3232	c.2905T>A	c.(2905-2907)Ttg>Atg	p.L969M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	969					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCAGTGTCCAAGTTTTTGAGG	0.527													14	76					0	0	0	0	T	31767794	A	T	31767794	3	4	407	1	0	0	0	0	1	0	0	0	16720	69	3	5	344	5	TSHZ3	19	31767794	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	9495892	31767794	27361189	190	77783											
LSM14A	26065	broad.mit.edu	37	chr19	34710734	34710735	+	Frame_Shift_Ins	INS	-	-	T																															cttggacctaattgctattaINStgacaaaactaaatccttct																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:34710734_34710735insT	ENST00000544216.3	+	8	1165_1166	c.1088_1089insT	c.(1087-1089)tgafs	p.*363fs	LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.*322fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.*363fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	363					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATTGCTATTATGACAAAACTA	0.332													8	43	---	---	---	---					T	34710735	-	T	34710734	7	5	407	1	0	1	1	0	0	0	0	0	9118	449	16	0	1118	0	LSM14A	19	34710734	Frame_Shift_Ins	INS	-	TCGA-F7-A623-01A-11D-A28R-08	2942940	34710734	24418249	191	77784											
ZNF566	84924	broad.mit.edu	37	chr19	36939892	36939892	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttcatcaccagtacaaaTtttgatgctgaataagttgt	12	16	7	6	0	2	2	2	2	0	0	2	2	2	2	1	0	2	4	1	0	4	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:36939892T>G	ENST00000454319.1	-	5	1381	c.1247A>C	c.(1246-1248)aAt>aCt	p.N416T	ZNF566_ENST00000493391.1_Missense_Mutation_p.N311T|ZNF566_ENST00000434377.2_Missense_Mutation_p.N415T|ZNF566_ENST00000424129.2_Missense_Mutation_p.N415T|ZNF566_ENST00000392170.2_Missense_Mutation_p.N416T	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CCAGTACAAATTTTGATGCTG	0.308													3	32					0	0	0	0	G	36939892	T	G	36939892	3	3	407	1	0	0	0	0	1	0	0	0	18092	1493	52	5	16	5	ZNF566	19	36939892	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	2229158	36939892	22189091	192	77785											
ZNF574	64763	broad.mit.edu	37	chr19	42582794	42582794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagacagtcctgtacatTgagcaccgctatgtctgctc	9	10	11	11	1	1	2	0	1	1	1	3	4	2	2	2	1	3	4	2	1	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:42582794T>C	ENST00000600245.1	+	2	691	c.36T>C	c.(34-36)atT>atC	p.I12I	ZNF574_ENST00000222339.7_Silent_p.I102I|ZNF574_ENST00000359044.4_Silent_p.I12I|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TCCTGTACATTGAGCACCGCT	0.552													27	228					0	0	0	0	C	42582794	T	C	42582794	2	2	407	1	0	0	0	0	0	0	0	1	18101	1800	63	5		5	ZNF574	19	42582794	Silent	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	5642902	42582794	16546189	193	77786											
STRN4	29888	broad.mit.edu	37	chr19	47231984	47231984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatagcatcctcagagtcGtcttcctcatcctcgtcttc	6	15	6	14	2	4	2	2	1	2	1	10	2	7	2	3	0	1	1	3	0	1	4	rs138551240	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:47231984G>A	ENST00000391910.3	-	7	1380	c.930C>T	c.(928-930)gaC>gaT	p.D310D	STRN4_ENST00000539396.1_Silent_p.D191D|STRN4_ENST00000263280.6_Silent_p.D310D|CTB-174O21.2_ENST00000600716.1_RNA			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	310						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCAGAGTCGTCTTCCTCAT	0.587													18	104					0	0	0	0	A	47231984	G	A	47231984	2	1	407	1	0	0	0	0	0	0	0	1	15421	1136	40	1		1	STRN4	19	47231984	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	4649190	47231984	11896999	194	77787											
KCNJ14	3770	broad.mit.edu	37	chr19	48965285	48965285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcctcgcctcctggCtgctcttcggcctggccttc	0	13	9	19	2	1	0	0	0	1	0	7	0	4	0	6	3	1	3	6	3	0	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:48965285C>G	ENST00000391884.1	+	1	780	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L102V			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	102						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CGCCTCCTGGCTGCTCTTCGG	0.692													6	34					0	0	0	0	G	48965285	C	G	48965285	3	3	407	1	0	0	0	0	1	0	0	0	8101	796	28	4	306	4	KCNJ14	19	48965285	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1733301	48965285	10163698	195	77788											
TRPM4	54795	broad.mit.edu	37	chr19	49713661	49713661	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccccggccctcgagcatttCcgtaagaacagagcttggct	8	9	10	14	3	0	2	0	0	0	2	3	3	2	2	4	2	3	4	4	2	2	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:49713661C>G	ENST00000252826.5	+	21	3453	c.3328_splice	c.e21+1	p.F1109_splice	TRPM4_ENST00000355712.5_Splice_Site_p.F755_splice|TRPM4_ENST00000427978.2_Splice_Site_p.F964_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1109	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCGAGCATTTCCGTAAGAACA	0.622													9	74					0	0	0	0	G	49713661	C	G	49713661	5	3	407	1	0	0	0	0	0	0	1	0	16683	869	30	2	3409	2	TRPM4	19	49713661	Splice_Site	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	748376	49713661	9415322	196	77789											
ZNF616	90317	broad.mit.edu	37	chr19	52619126	52619126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagttttctgtccagtatGaattctctgatgcactgcaa	10	15	8	8	0	2	2	0	2	2	0	4	2	3	2	1	0	2	5	1	0	4	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:52619126G>A	ENST00000600228.1	-	4	1552	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGTCCAGTATGAATTCTCTGA	0.418													22	162					0	0	0	0	A	52619126	G	A	52619126	3	1	407	1	0	0	0	0	1	0	0	0	18136	1290	45	2	1058	2	ZNF616	19	52619126	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2905465	52619126	6509857	197	77790											
ZNF611	81856	broad.mit.edu	37	chr19	53217272	53217272	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacattttcctcacccacAgcctccaggttcctgtagtt	7	12	8	14	0	1	0	1	0	0	0	4	1	4	1	5	2	1	3	5	2	1	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:53217272A>C	ENST00000543227.1	-	5	460	c.186T>G	c.(184-186)gcT>gcG	p.A62A	ZNF611_ENST00000540744.1_Silent_p.A62A|ZNF611_ENST00000600943.1_Intron|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000453741.2_Intron|ZNF611_ENST00000596702.1_Intron|ZNF611_ENST00000319783.1_Silent_p.A62A|ZNF611_ENST00000595798.1_Intron	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CCTCACCCACAGCCTCCAGGT	0.478													26	228					0	0	0	0	C	53217272	A	C	53217272	2	2	407	1	0	0	0	0	0	0	0	1	18132	175	7	5		5	ZNF611	19	53217272	Silent	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	598146	53217272	5911711	198	77791											
ZNF845	91664	broad.mit.edu	37	chr19	53854889	53854889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtaattcataaggcaattCatactggagagaaatcttac	15	13	7	6	0	3	1	2	0	1	1	3	3	3	2	0	2	2	2	0	2	6	7			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:53854889C>T	ENST00000458035.1	+	4	1078	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	ZNF845_ENST00000595091.1_Missense_Mutation_p.H321Y	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAAGGCAATTCATACTGGAGA	0.413													6	99					0	0	0	0	T	53854889	C	T	53854889	3	4	407	1	0	0	0	0	1	0	0	0	18284	826	29	2	971	2	ZNF845	19	53854889	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	637617	53854889	5274094	199	77792											
LILRA5	353514	broad.mit.edu	37	chr19	54823409	54823409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcccagagggtggctttgGagaggttccctggaaggaaa	10	7	16	8	0	0	2	0	0	0	2	1	5	1	4	2	6	1	2	2	6	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:54823409G>A	ENST00000301219.3	-	4	253	c.134C>T	c.(133-135)tCc>tTc	p.S45F	LILRA5_ENST00000446712.3_Missense_Mutation_p.S33F|LILRA5_ENST00000432233.3_Missense_Mutation_p.S45F|LILRA5_ENST00000346508.3_Missense_Mutation_p.S33F|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	45					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGCTTTGGAGAGGTTCCC	0.622													9	96					0	0	0	0	A	54823409	G	A	54823409	3	1	407	1	0	0	0	0	1	0	0	0	8842	1174	41	2	867	2	LILRA5	19	54823409	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	968520	54823409	4305574	200	77793											
EPS8L1	54869	broad.mit.edu	37	chr19	55594831	55594831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcactgacccgcagagcCgcgcctgggaggacccagtt	7	5	14	15	4	1	2	1	1	0	1	1	4	1	4	4	3	1	2	4	3	0	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:55594831C>T	ENST00000201647.6	+	13	1356	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	EPS8L1_ENST00000540810.1_Missense_Mutation_p.R370C|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R307C|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R416C|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R88C|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	434						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCGCAGAGCCGCGCCTGGGA	0.697													27	33					0	0	0	0	T	55594831	C	T	55594831	3	4	407	1	0	0	0	0	1	0	0	0	5233	652	23	1	1398	1	EPS8L1	19	55594831	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	771422	55594831	3534152	201	77794											
ZNF805	390980	broad.mit.edu	37	chr19	57765984	57765984	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttttgaatgtcaccacTgaggaaaatcttttgcaaga	14	13	7	7	0	2	3	1	2	1	1	2	4	2	4	1	1	2	1	1	1	5	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:57765984T>C	ENST00000535550.1	+	4	1894	c.1398T>C	c.(1396-1398)acT>acC	p.T466T	ZNF805_ENST00000354309.4_Silent_p.T466T|ZNF805_ENST00000414468.2_Silent_p.T599T	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ATGTCACCACTGAGGAAAATC	0.413													4	18					0	0	0	0	C	57765984	T	C	57765984	2	2	407	1	0	0	0	0	0	0	0	1	18265	1567	55	5		5	ZNF805	19	57765984	Silent	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	2171153	57765984	1362999	202	77795											
ZNF776	284309	broad.mit.edu	37	chr19	58265261	58265261	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaatagttttaataatcatCagggagttcgcactggaaaa	15	12	9	5	1	2	0	2	0	0	0	3	2	2	2	0	2	0	4	0	2	6	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:58265261C>T	ENST00000317178.5	+	3	1026	c.763C>T	c.(763-765)Cag>Tag	p.Q255*		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TAATAATCATCAGGGAGTTCG	0.423													10	120					0	0	0	0	T	58265261	C	T	58265261	4	4	407	1	0	0	0	0	0	1	0	0	18242	827	29	2	773	2	ZNF776	19	58265261	Nonsense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	499277	58265261	863722	203	77796											
SNPH	9751	broad.mit.edu	37	chr20	1286379	1286379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccaccccacagcggcctgGtgccaaccccaaccctggcc	8	3	8	22	1	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	3	2	0	rs146712342	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:1286379G>A	ENST00000381867.1	+	7	1940	c.1298G>A	c.(1297-1299)gGt>gAt	p.G433D	SNPH_ENST00000381873.3_Missense_Mutation_p.G389D			O15079	SNPH_HUMAN	syntaphilin	389					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAGCGGCCTGGTGCCAACCCC	0.657													3	28					0	0	0	0	A	1286379	G	A	1286379	3	1	407	1	0	0	0	0	1	0	0	0	14938	1261	44	4	1180	4	SNPH	20	1286379	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08		1286379	61739141	204	77797											
ZNF341	84905	broad.mit.edu	37	chr20	32379113	32379113	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggggctgggctggtgccCgaggctgtccccggcaagcc	5	5	17	14	2	0	0	0	0	0	0	1	1	1	0	4	6	2	4	4	6	1	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:32379113C>A	ENST00000375200.1	+	15	2720	c.2355C>A	c.(2353-2355)ccC>ccA	p.P785P	RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.P778P|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGCTGGTGCCCGAGGCTGTCC	0.706													22	49					5.26018e-13	5.76792e-13	1	0	A	32379113	C	A	32379113	2	1	407	1	0	0	0	0	0	0	0	1	17952	639	23	3		3	ZNF341	20	32379113	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	31092734	32379113	30646407	205	77798											
SAMHD1	25939	broad.mit.edu	37	chr20	35533769	35533769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgcctgataactcacccTtttaatctttatttgtcctg	9	17	5	10	0	2	2	1	1	1	1	3	2	3	2	3	0	2	0	3	0	3	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:35533769T>C	ENST00000262878.4	-	12	1607	c.1408A>G	c.(1408-1410)Agg>Ggg	p.R470G		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	470					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TAACTCACCCTTTTAATCTTT	0.393													13	112					0	0	0	0	C	35533769	T	C	35533769	3	2	407	1	0	0	0	0	1	0	0	0	13913	1608	56	5	492	5	SAMHD1	20	35533769	Missense_Mutation	SNP	T	TCGA-F7-A623-01A-11D-A28R-08	3154656	35533769	27491751	206	77799											
DHX35	60625	broad.mit.edu	37	chr20	37612351	37612351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtttgtagtaccttgcaGaagccggctggacagctgaa	9	12	12	8	1	0	2	0	1	0	1	0	3	0	3	2	2	4	6	2	2	4	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:37612351G>A	ENST00000252011.3	+	4	310	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	DHX35_ENST00000373323.4_Missense_Mutation_p.E62K|DHX35_ENST00000373325.2_Missense_Mutation_p.E93K	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	93	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GTACCTTGCAGAAGCCGGCTG	0.438													5	33					0	0	0	0	A	37612351	G	A	37612351	3	1	407	1	0	0	0	0	1	0	0	0	4545	943	33	2	291	2	DHX35	20	37612351	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2078582	37612351	25413169	207	77800											
LPIN3	64900	broad.mit.edu	37	chr20	39978973	39978973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctcctgcctccaagtcatgGagctgggccactctggaggt	6	9	12	14	0	2	0	1	0	1	0	4	2	4	2	5	4	2	1	5	4	1	0			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:39978973G>C	ENST00000373257.3	+	7	1129	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	346					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCAAGTCATGGAGCTGGGCCA	0.632													11	69					0	0	0	0	C	39978973	G	C	39978973	3	2	407	1	0	0	0	0	1	0	0	0	8984	1183	41	2	1060	2	LPIN3	20	39978973	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	2366622	39978973	23046547	208	77801											
ZNFX1	57169	broad.mit.edu	37	chr20	47864829	47864829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgggcatcaggctcatcctCaaagccaaagaatatttggg	12	8	11	10	1	3	1	3	0	0	1	4	1	4	1	2	3	1	2	2	3	4	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:47864829C>G	ENST00000396105.1	-	14	4978	c.4732G>C	c.(4732-4734)Gag>Cag	p.E1578Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1578Q|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1578							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCTCATCCTCAAAGCCAAAG	0.527													21	135					0	0	0	0	G	47864829	C	G	47864829	3	3	407	1	0	0	0	0	1	0	0	0	18298	835	29	2	1028	2	ZNFX1	20	47864829	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	7885856	47864829	15160691	209	77802											
SLCO4A1	28231	broad.mit.edu	37	chr20	61296316	61296316	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctgaagaaccccacGttcatcctgctctgcctggc	6	10	8	17	1	2	2	1	1	1	1	4	2	4	2	5	1	4	3	5	1	2	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:61296316G>T	ENST00000217159.1	+	6	1357	c.1152G>T	c.(1150-1152)acG>acT	p.T384T	RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000370507.1_Silent_p.T384T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	384					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AGAACCCCACGTTCATCCTGC	0.627													48	135					9.52127e-25	1.07303e-24	1	0	T	61296316	G	T	61296316	2	4	407	1	0	0	0	0	0	0	0	1	14817	1132	40	3		3	SLCO4A1	20	61296316	Silent	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	13431487	61296316	1729204	210	77803											
NCAM2	4685	broad.mit.edu	37	chr21	22656567	22656567	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctcaaggagagaagataAtttcaacacagagggtagta	17	8	10	6	0	2	3	2	0	0	3	3	5	3	4	1	2	1	2	1	2	6	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:22656567A>C	ENST00000400546.1	+	3	433	c.184A>C	c.(184-186)Att>Ctt	p.I62L	NCAM2_ENST00000535285.1_Missense_Mutation_p.I87L|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	62	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAGAAGATAATTTCAACACA	0.368													10	56					0	0	0	0	C	22656567	A	C	22656567	3	2	407	1	0	0	0	0	1	0	0	0	10273	101	4	5	194	5	NCAM2	21	22656567	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08		22656567	25473328	211	77804											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864161	31864161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtagcctccatagccacAgccagaacccagtctgcgga	10	6	9	16	2	1	1	0	0	1	1	3	2	3	2	6	1	5	1	6	1	3	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:31864161A>T	ENST00000334063.4	-	1	114	c.115T>A	c.(115-117)Tgt>Agt	p.C39S		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	39						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CCATAGCCACAGCCAGAACCC	0.577													127	351					0	0	0	0	T	31864161	A	T	31864161	3	4	407	1	0	0	0	0	1	0	0	0	8582	188	7	5	134	5	KRTAP19-3	21	31864161	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	9207594	31864161	16265734	212	77805											
TTC3	7267	broad.mit.edu	37	chr21	38460600	38460600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccacttctgtttcaacatCaaaacagttccgtaatatca	13	12	5	11	1	4	0	3	0	1	0	5	0	5	0	2	1	2	3	2	1	5	5			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:38460600C>G	ENST00000399017.2	+	4	3039	c.292C>G	c.(292-294)Caa>Gaa	p.Q98E	TTC3_ENST00000354749.2_Missense_Mutation_p.Q98E|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.Q98E|TTC3_ENST00000399010.1_Missense_Mutation_p.Q98E|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	98					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCAACATCAAAACAGTTC	0.388													18	70					0	0	0	0	G	38460600	C	G	38460600	3	3	407	1	0	0	0	0	1	0	0	0	16793	827	29	2	302	2	TTC3	21	38460600	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	6596439	38460600	9669295	213	77806											
DSCAM	1826	broad.mit.edu	37	chr21	41385186	41385186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaggaccgtggggcgCttcagggtccggcttttctg	3	10	16	12	3	2	0	1	0	1	0	4	1	4	1	3	6	0	3	3	6	0	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:41385186C>A	ENST00000400454.1	-	33	6291	c.5814G>T	c.(5812-5814)aaG>aaT	p.K1938N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1938				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGTGGGGCGCTTCAGGGTCC	0.607													10	54					0.000673444	0.000690462	1	0	A	41385186	C	A	41385186	3	1	407	1	0	0	0	0	1	0	0	0	4804	796	28	4	228	4	DSCAM	21	41385186	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	2924586	41385186	6744709	214	77807											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999786	45999786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatatggggcggcagaGgagggacacggaggaggagg	10	3	21	7	2	0	1	0	0	0	1	0	6	0	6	1	9	1	2	1	9	1	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:45999786G>A	ENST00000400372.1	-	1	695	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	224	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGGCGGCAGAGGAGGGACACG	0.682													21	206					0	0	0	0	A	45999786	G	A	45999786	3	1	407	1	0	0	0	0	1	0	0	0	8564	1000	35	4	149	4	KRTAP10-5	21	45999786	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	4614600	45999786	2130109	215	77808											
MCM5	4174	broad.mit.edu	37	chr22	35809934	35809934	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggggaccctgggacagcCaagtcccagcttctgaagtt	9	8	12	12	0	1	1	0	1	1	0	2	3	2	3	3	3	2	2	3	3	3	3			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:35809934C>G	ENST00000216122.4	+	9	1312	c.1158C>G	c.(1156-1158)gcC>gcG	p.A386A	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.A343A	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	386	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTGGGACAGCCAAGTCCCAGC	0.577													11	66					0	0	0	0	G	35809934	C	G	35809934	2	3	407	1	0	0	0	0	0	0	0	1	9459	581	21	4		4	MCM5	22	35809934	Silent	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		35809934	15494632	216	77809											
EP300	2033	broad.mit.edu	37	chr22	41566523	41566523	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcgactgcaggaatggtAcaaaaaaatgcttgacaagg	17	6	11	7	1	0	1	0	1	0	0	0	3	0	2	0	3	4	3	0	3	7	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:41566523A>C	ENST00000263253.7	+	27	5619	c.4400A>C	c.(4399-4401)tAc>tCc	p.Y1467S	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1467					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1467C(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAGGAATGGTACAAAAAAATG	0.473			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				45	29					0	0	0	0	C	41566523	A	C	41566523	3	2	407	1	0	0	0	0	1	0	0	0	5186	391	14	5	4506	5	EP300	22	41566523	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	5756589	41566523	9738043	217	77810											
MCAT	27349	broad.mit.edu	37	chr22	43537207	43537207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggcaaacactagggctgCaaactctcccacactgaatc	12	7	7	15	1	1	1	0	1	1	0	4	1	2	1	2	2	3	3	2	2	4	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:43537207C>T	ENST00000290429.5	-	2	517	c.472G>A	c.(472-474)Gca>Aca	p.A158T	MCAT_ENST00000327555.5_Missense_Mutation_p.A158T|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	158					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				ACTAGGGCTGCAAACTCTCCC	0.527													18	131					0	0	0	0	T	43537207	C	T	43537207	3	4	407	1	0	0	0	0	1	0	0	0	9441	710	25	4	712	4	MCAT	22	43537207	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	1970684	43537207	7767359	218	77811											
MAPK12	6300	broad.mit.edu	37	chr22	50699899	50699899	+	Frame_Shift_Del	DEL	G	G	-																															ggccgtcttggtcacctcctGgcggtaaaagccactgcggg																										TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:50699899delG	ENST00000215659.8	-	1	355	c.40delC	c.(40-42)agfs	p.Q14fs	MAPK12_ENST00000395778.3_Frame_Shift_Del_p.Q14fs	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	14					cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCACCTCCTGGCGGTAAAAG	0.766													2	4	---	---	---	---					-	50699899	G	-	50699899	7	5	407	1	0	1	0	1	0	0	0	0	9343	1357	47	0	1111	0	MAPK12	22	50699899	Frame_Shift_Del	DEL	G	TCGA-F7-A623-01A-11D-A28R-08	7162692	50699899	604667	219	77812											
ASMT	438	broad.mit.edu	37	chrX	1742089	1742089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcgccgaggccccagggCccctggacgtggcggcagtg	4	6	16	15	4	1	0	0	0	1	0	2	2	1	1	5	5	0	1	5	5	0	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:1742089C>T	ENST00000381241.3	+	2	326	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	ASMT_ENST00000381233.3_Missense_Mutation_p.P43S|ASMT_ENST00000381229.4_Missense_Mutation_p.P43S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	43					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCCCAGGGCCCCTGGACGT	0.637													7	46					0	0	0	0	T	1742089	C	T	1742089	3	4	407	1	0	0	0	0	1	0	0	0	1049	739	26	4	133	4	ASMT	23	1742089	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08		1742089	153528471	220	77813											
ASMT	438	broad.mit.edu	37	chrX	1752132	1752132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccagaagtggtgtggacgGcaaagcagcacttctcattc	10	9	11	11	1	1	1	1	0	1	1	4	2	2	2	1	3	2	3	1	3	2	2			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:1752132G>A	ENST00000381241.3	+	7	935	c.736G>A	c.(736-738)Gca>Aca	p.A246T	ASMT_ENST00000381233.3_Intron|ASMT_ENST00000381229.4_Missense_Mutation_p.A218T|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	218					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGGACGGCAAAGCAGCA	0.527													4	171					0	0	0	0	A	1752132	G	A	1752132	3	1	407	1	0	0	0	0	1	0	0	0	1049	1203	42	4	762	4	ASMT	23	1752132	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	10043	1752132	153518428	221	77814											
DMD	1756	broad.mit.edu	37	chrX	32235084	32235084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caattctcaggaatttgtgtCtttctgagaaactgttcagc	10	15	8	8	0	4	1	2	1	3	1	5	3	4	2	0	1	2	1	0	1	3	4			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:32235084C>G	ENST00000357033.4	-	44	6593	c.6387G>C	c.(6385-6387)aaG>aaC	p.K2129N	DMD_ENST00000378677.2_Missense_Mutation_p.K2125N	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	2129					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			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)				GAATTTGTGTCTTTCTGAGAA	0.348													5	6					0	0	0	0	G	32235084	C	G	32235084	3	3	407	1	0	0	0	0	1	0	0	0	4617	912	32	2	4962	2	DMD	23	32235084	Missense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	30482952	32235084	123035476	222	77815											
KDM6A	7403	broad.mit.edu	37	chrX	44879905	44879905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgttgatcccagcttttgtcGagccaaggaaattcatttac	10	14	8	9	1	1	1	1	1	0	0	3	3	2	2	2	1	3	2	2	1	3	6			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:44879905G>C	ENST00000377967.4	+	6	535	c.494G>C	c.(493-495)cGa>cCa	p.R165P	KDM6A_ENST00000536777.1_Missense_Mutation_p.R165P|KDM6A_ENST00000382899.4_Missense_Mutation_p.R165P|KDM6A_ENST00000543216.1_Missense_Mutation_p.R165P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	165					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCTTTTGTCGAGCCAAGGAA	0.358			"D, N, F, S"		"renal, oesophageal SCC, MM"								27	27					0	0	0	0	C	44879905	G	C	44879905	3	2	407	1	0	0	0	0	1	0	0	0	8189	1058	37	3	516	3	KDM6A	23	44879905	Missense_Mutation	SNP	G	TCGA-F7-A623-01A-11D-A28R-08	12644821	44879905	110390655	223	77816											
WDR13	64743	broad.mit.edu	37	chrX	48460486	48460486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagcgtttggtggtgcAtgaggggagccctgtgacca	8	8	16	9	1	0	2	0	2	0	0	0	3	0	3	3	4	4	2	3	4	1	1			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:48460486A>T	ENST00000218056.5	+	7	1551	c.1046A>T	c.(1045-1047)cAt>cTt	p.H349L		NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	349						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TTGGTGGTGCATGAGGGGAGC	0.637													23	14					0	0	0	0	T	48460486	A	T	48460486	3	4	407	1	0	0	0	0	1	0	0	0	17371	217	8	5	1072	5	WDR13	23	48460486	Missense_Mutation	SNP	A	TCGA-F7-A623-01A-11D-A28R-08	3580581	48460486	106810074	224	77817											
SPANXN3	139067	broad.mit.edu	37	chrX	142605189	142605189	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggggctcttcgtcttctCcccattggtgctggaagttg	5	13	12	11	1	3	0	0	0	3	0	5	1	3	1	2	4	1	3	2	4	1	4	rs142678625		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:142605189C>A	ENST00000370503.2	-	1	114	c.31G>T	c.(31-33)Gag>Tag	p.E11*		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	11										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGTCTTCTCCCCATTGGTG	0.443													62	41					2.69673e-31	3.06349e-31	1	0	A	142605189	C	A	142605189	4	1	407	1	0	0	0	0	0	1	0	0	15082	864	30	2	402	2	SPANXN3	23	142605189	Nonsense_Mutation	SNP	C	TCGA-F7-A623-01A-11D-A28R-08	94144703	142605189	12665371	225	77818											
AGRN	375790	broad.mit.edu	37	chr1	983025	983025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcgggacctggggcccGgcaaatccgtccgcgccatt	5	7	14	15	5	0	0	0	0	0	0	2	1	2	1	5	4	1	2	5	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:983025G>A	ENST00000379370.2	+	21	3639	c.3589G>A	c.(3589-3591)Ggc>Agc	p.G1197S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1197	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTGGGGCCCGGCAAATCCGT	0.617													4	110					0	0	0	0	A	983025	G	A	983025	3	1	408	1	0	0	0	0	1	0	0	0	397	1116	39	1	3671	1	AGRN	1	983025	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08		983025	248267596	1	77819											
AGRN	375790	broad.mit.edu	37	chr1	983037	983037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcccggcaaatccgtcCgcgccattgtggatgtgcac	6	8	14	13	4	0	0	0	0	0	0	2	1	2	1	4	4	1	2	4	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:983037C>T	ENST00000379370.2	+	21	3651	c.3601C>T	c.(3601-3603)Cgc>Tgc	p.R1201C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1201	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAAATCCGTCCGCGCCATTGT	0.617													22	82					0	0	0	0	T	983037	C	T	983037	3	4	408	1	0	0	0	0	1	0	0	0	397	652	23	1	3683	1	AGRN	1	983037	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	12	983037	248267584	2	77820											
SDF4	51150	broad.mit.edu	37	chr1	1154154	1154154	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacccagcctcacccaggTcccggacgatctccttcacc	7	7	8	19	2	3	0	2	0	1	0	5	3	4	2	6	3	1	0	6	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1154154T>C	ENST00000263741.7	-	5	1023	c.731A>G	c.(730-732)gAc>gGc	p.D244G	SDF4_ENST00000360001.6_Missense_Mutation_p.D244G	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	244	EF-hand 4.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	p.D244G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCACCCAGGTCCCGGACGAT	0.692													42	153					0	0	0	0	C	1154154	T	C	1154154	3	2	408	1	0	0	0	0	1	0	0	0	14049	1667	58	5	485	5	SDF4	1	1154154	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	171117	1154154	248096467	3	77821											
B3GALT6	126792	broad.mit.edu	37	chr1	1168029	1168029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgctgctgctgcccgCgctgcgcgacgcctacgaaa	6	6	13	16	6	0	0	0	0	0	0	0	3	0	1	3	1	6	4	3	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1168029C>T	ENST00000379198.2	+	1	401	c.371C>T	c.(370-372)gCg>gTg	p.A124V		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	124					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCTGCCCGCGCTGCGCGAC	0.736													16	20					0	0	0	0	T	1168029	C	T	1168029	3	4	408	1	0	0	0	0	1	0	0	0	1255	768	27	1	373	1	B3GALT6	1	1168029	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	13875	1168029	248082592	4	77822											
CPSF3L	54973	broad.mit.edu	37	chr1	1247409	1247411	+	In_Frame_Del	DEL	AGG	AGG	-																															accccttacctggtaggtccAggagaccagcagcaccttgg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1247409_1247411delAGG	ENST00000540437.1	-	18	2197_2199	c.1742_1744delCCT	c.(1741-1746)tgg>t	p.SW581del	CPSF3L_ENST00000419704.1_In_Frame_Del_p.SW474del|CPSF3L_ENST00000545578.1_In_Frame_Del_p.SW546del|CPSF3L_ENST00000421495.2_In_Frame_Del_p.SW317del|CPSF3L_ENST00000450926.2_In_Frame_Del_p.SW553del|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000435064.1_In_Frame_Del_p.SW575del|CPSF3L_ENST00000411962.1_In_Frame_Del_p.SW477del	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	575						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGTAGGTCCAGGAGACCAGCAG	0.631													3	5	---	---	---	---					-	1247411	AGG	-	1247409	7	5	408	1	0	1	0	1	0	0	0	0	3857	188	7	0	84	0	CPSF3L	1	1247409	In_Frame_Del	DEL	AGG	TCGA-F7-A624-01A-22D-A30E-08	79380	1247409	248003212	5	77823											
DVL1	1855	broad.mit.edu	37	chr1	1274021	1274021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcttcaccgtcagcggcGcctcttccagctctgcaaag	7	9	8	17	3	5	0	2	0	3	0	6	0	6	0	3	1	3	2	3	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1274021G>A	ENST00000378888.5	-	12	1504	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V	DVL1_ENST00000378891.5_Missense_Mutation_p.A382V			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	407					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGTCAGCGGCGCCTCTTCCAG	0.662													14	30					0	0	0	0	A	1274021	G	A	1274021	3	1	408	1	0	0	0	0	1	0	0	0	4871	1087	38	1	883	1	DVL1	1	1274021	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	26612	1274021	247976600	6	77824											
DVL1	1855	broad.mit.edu	37	chr1	1277865	1277865	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctcagccaggaccagCtgtggagggagcaggcatgc	9	4	15	13	0	1	0	1	0	0	0	1	3	1	3	3	4	4	4	3	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1277865C>T	ENST00000378888.5	-	3	525		c.e3-1		DVL1_ENST00000378891.5_Splice_Site			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1						canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGGACCAGCTGTGGAGGGA	0.701													11	17					0	0	0	0	T	1277865	C	T	1277865	5	4	408	1	0	0	0	0	0	0	1	0	4871	811	28	4	1824	4	DVL1	1	1277865	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3844	1277865	247972756	7	77825											
ATAD3C	219293	broad.mit.edu	37	chr1	1403878	1403878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggctgaagggggagaggCctgggcccgaggacgagcaa	9	3	20	9	2	0	2	0	1	0	1	0	6	0	3	2	6	1	3	2	6	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1403878C>T	ENST00000378785.2	+	12	2199	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	402							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGGAGAGGCCTGGGCCCGA	0.672													8	34					0	0	0	0	T	1403878	C	T	1403878	3	4	408	1	0	0	0	0	1	0	0	0	1079	739	26	4	1250	4	ATAD3C	1	1403878	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	126013	1403878	247846743	8	77826											
ATAD3A	55210	broad.mit.edu	37	chr1	1458248	1458248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagacgtcccgcatcaCggtgcttgaggcgctgcggc	6	6	17	12	5	1	2	1	1	0	1	2	4	2	2	1	4	2	3	1	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1458248C>T	ENST00000378755.5	+	8	1113	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M	ATAD3A_ENST00000378756.3_Missense_Mutation_p.T292M|ATAD3A_ENST00000536055.1_Missense_Mutation_p.T213M	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	340							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TCCCGCATCACGGTGCTTGAG	0.662													14	39					0	0	0	0	T	1458248	C	T	1458248	3	4	408	1	0	0	0	0	1	0	0	0	1077	536	19	1	1049	1	ATAD3A	1	1458248	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	54370	1458248	247792373	9	77827											
GNB1	2782	broad.mit.edu	37	chr1	1721839	1721839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccagactcacgcaaaTggcattgatgtcagactcgt	11	9	8	13	2	2	3	2	1	0	2	4	3	3	3	2	1	0	2	2	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1721839T>C	ENST00000378609.4	-	9	1025	c.694A>G	c.(694-696)Att>Gtt	p.I232V		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	232					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CTCACGCAAATGGCATTGATG	0.522													4	76					0	0	0	0	C	1721839	T	C	1721839	3	2	408	1	0	0	0	0	1	0	0	0	6566	1464	51	5	340	5	GNB1	1	1721839	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	263591	1721839	247528782	10	77828											
PRKCZ	5590	broad.mit.edu	37	chr1	2082410	2082410	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagagctggtgcatgAtgacgaggtaggtgccgctt	11	8	16	6	2	0	4	0	2	0	2	0	6	0	4	1	3	3	4	1	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:2082410A>T	ENST00000400921.2	+	6	1003	c.320A>T	c.(319-321)gAt>gTt	p.D107V	PRKCZ_ENST00000400920.1_Missense_Mutation_p.D107V|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	290	Interaction with SQSTM1 (By similarity).				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CTGGTGCATGATGACGAGGTA	0.597													15	55					0	0	0	0	T	2082410	A	T	2082410	3	4	408	1	0	0	0	0	1	0	0	0	12597	333	12	5	903	5	PRKCZ	1	2082410	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	360571	2082410	247168211	11	77829											
ARHGEF16	27237	broad.mit.edu	37	chr1	3395015	3395015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctacatggtccaggactaCgcccagatgaaccacatcca	13	6	8	14	1	0	2	0	1	0	1	2	3	2	3	4	2	4	1	4	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:3395015C>T	ENST00000378378.4	+	12	2058	c.1653C>T	c.(1651-1653)taC>taT	p.Y551Y	ARHGEF16_ENST00000378373.1_Silent_p.Y263Y|ARHGEF16_ENST00000378371.2_Silent_p.Y263Y|ARHGEF16_ENST00000413250.2_Silent_p.Y255Y	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	551	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCAGGACTACGCCCAGATGA	0.662													52	111					0	0	0	0	T	3395015	C	T	3395015	2	4	408	1	0	0	0	0	0	0	0	1	901	547	19	1		1	ARHGEF16	1	3395015	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1312605	3395015	245855606	12	77830											
CHD5	26038	broad.mit.edu	37	chr1	6173014	6173014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgtggatcaagctcaGctccagcttgtccaggatct	7	12	10	12	0	4	0	2	0	2	0	6	2	6	2	2	2	4	4	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:6173014G>C	ENST00000262450.3	-	34	5056	c.4957C>G	c.(4957-4959)Ctg>Gtg	p.L1653V	CHD5_ENST00000378021.1_Missense_Mutation_p.L510V	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1653					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCAAGCTCAGCTCCAGCTTG	0.582													20	75					0	0	0	0	C	6173014	G	C	6173014	3	2	408	1	0	0	0	0	1	0	0	0	3357	962	34	4	939	4	CHD5	1	6173014	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2777999	6173014	243077607	13	77831											
KLHL21	9903	broad.mit.edu	37	chr1	6659379	6659379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgtcggcggccaccacGtacagcagtccgtccagcac	7	6	12	16	4	0	0	0	0	0	0	3	0	2	0	4	2	4	4	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:6659379G>A	ENST00000377663.3	-	2	1338	c.1155C>T	c.(1153-1155)taC>taT	p.Y385Y	KLHL21_ENST00000463043.1_Silent_p.Y18Y|KLHL21_ENST00000467612.1_Silent_p.Y18Y|KLHL21_ENST00000377658.4_Silent_p.Y385Y			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	385					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CGGCCACCACGTACAGCAGTC	0.632													16	66					0	0	0	0	A	6659379	G	A	6659379	2	1	408	1	0	0	0	0	0	0	0	1	8428	1140	40	1		1	KLHL21	1	6659379	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	486365	6659379	242591242	14	77832											
CAMTA1	23261	broad.mit.edu	37	chr1	7700509	7700509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgccggccatcgaggActgcggcaagccttgcggcc	7	5	15	14	5	0	0	0	0	0	0	1	3	0	1	4	4	5	1	4	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:7700509A>G	ENST00000303635.7	+	7	767	c.560A>G	c.(559-561)gAc>gGc	p.D187G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D187G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCATCGAGGACTGCGGCAAG	0.612			T	WWTR1	epitheliod hemangioendothelioma								4	142					0	0	0	0	G	7700509	A	G	7700509	3	3	408	1	0	0	0	0	1	0	0	0	2638	275	10	5	586	5	CAMTA1	1	7700509	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1041130	7700509	241550112	15	77833											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998254	7998254	+	Splice_Site	DEL	T	T	-																															caaagaaacgcaaacgtaccTttttttgtcagttcttgacc																								rs9657965	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:7998254delT	ENST00000377507.3	-	4	511	c.346_splice	c.e4+1	p.K115_splice		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	115			K -> N (in dbSNP:rs9657965).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			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)		CAAACGTACCTTTTTTTGTCA	0.413													31	125	---	---	---	---					-	7998254	T	-	7998254	8	5	408	1	0	1	0	1	0	0	1	0	16394	1623	56	0	442	0	TNFRSF9	1	7998254	Splice_Site	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	297745	7998254	241252367	16	77834											
RERE	473	broad.mit.edu	37	chr1	8420636	8420636	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccgacggggggtgatgTgtggacagggagctcagggg	7	6	22	6	2	1	2	1	2	0	0	1	5	1	4	1	7	2	1	1	7	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:8420636T>C	ENST00000337907.3	-	19	3565	c.2931A>G	c.(2929-2931)acA>acG	p.T977T	RERE_ENST00000400908.2_Silent_p.T977T|RERE_ENST00000476556.1_Silent_p.T423T|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.T709T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	977	Pro-rich.			T -> K (in Ref. 2; no nucleotide entry).	multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGGGTGATGTGTGGACAGGG	0.697													9	41					0	0	0	0	C	8420636	T	C	8420636	2	2	408	1	0	0	0	0	0	0	0	1	13313	1683	59	5		5	RERE	1	8420636	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	422382	8420636	240829985	17	77835											
SLC25A33	84275	broad.mit.edu	37	chr1	9627374	9627374	+	Frame_Shift_Del	DEL	T	T	-																															gaaagagggaccaaagtcacTttttagaggcttgggtccaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:9627374delT	ENST00000302692.6	+	3	479	c.269delT	c.(268-270)ctfs	p.L90fs		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	90					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCAAAGTCACTTTTTAGAGGC	0.413													69	204	---	---	---	---					-	9627374	T	-	9627374	7	5	408	1	0	1	0	1	0	0	0	0	14585	1609	56	0	279	0	SLC25A33	1	9627374	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1206738	9627374	239623247	18	77836											
PIK3CD	5293	broad.mit.edu	37	chr1	9777114	9777114	+	Frame_Shift_Del	DEL	C	C	-																															ggatgagcagagcaaccctgCcccccaggtccagaaaccgc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:9777114delC	ENST00000377346.4	+	7	1073	c.878delC	c.(877-879)gcfs	p.A293fs	PIK3CD_ENST00000361110.2_Intron|PIK3CD_ENST00000536656.1_Intron	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	293					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAACCCTGCCCCCCAGGTC	0.617													29	145	---	---	---	---					-	9777114	C	-	9777114	7	5	408	1	0	1	0	1	0	0	0	0	11987	739	26	0	896	0	PIK3CD	1	9777114	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	149740	9777114	239473507	19	77837											
UBE4B	10277	broad.mit.edu	37	chr1	10231324	10231324	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaagaagctgttggaccaActgacggatatttacttaca	14	10	8	9	1	0	2	0	1	0	1	0	4	0	4	2	2	4	2	2	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:10231324A>G	ENST00000377157.3	+	24	3788	c.2727A>G	c.(2725-2727)caA>caG	p.Q909Q	UBE4B_ENST00000253251.8_Silent_p.Q1025Q|UBE4B_ENST00000343090.6_Silent_p.Q1154Q	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1154					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGTTGGACCAACTGACGGATA	0.473													43	137					0	0	0	0	G	10231324	A	G	10231324	2	3	408	1	0	0	0	0	0	0	0	1	16979	40	2	5		5	UBE4B	1	10231324	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	454210	10231324	239019297	20	77838											
KIF1B	23095	broad.mit.edu	37	chr1	10386368	10386368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcagatctcttcagtgacGggcatgacccgttttacgac	9	11	10	11	3	3	3	2	2	1	1	4	5	3	3	1	1	1	2	1	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:10386368G>T	ENST00000377086.1	+	27	3077	c.2875G>T	c.(2875-2877)Ggg>Tgg	p.G959W	KIF1B_ENST00000377081.1_Missense_Mutation_p.G959W|KIF1B_ENST00000263934.6_Missense_Mutation_p.G913W			O60333	KIF1B_HUMAN	kinesin family member 1B	959					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCAGTGACGGGCATGACCC	0.527													34	101					3.11337e-16	3.26767e-16	1	0	T	10386368	G	T	10386368	3	4	408	1	0	0	0	0	1	0	0	0	8335	1116	39	3	4320	3	KIF1B	1	10386368	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	155044	10386368	238864253	21	77839											
APITD1	378708	broad.mit.edu	37	chr1	10500429	10500429	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaagaaccacaattaacActgaagatgtgaagctctta	18	8	7	8	1	1	4	0	2	1	2	1	5	1	4	1	0	3	1	1	0	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:10500429A>G	ENST00000602787.1	+	4	651	c.235A>G	c.(235-237)Act>Gct	p.T79A	APITD1-CORT_ENST00000465026.1_3'UTR|APITD1_ENST00000462462.1_3'UTR|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.T79A|APITD1_ENST00000602296.1_Intron|APITD1_ENST00000309048.3_Missense_Mutation_p.T79A	NM_198544.3	NP_940946.1			apoptosis-inducing, TAF9-like domain 1											kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CACAATTAACACTGAAGATGT	0.403													10	33					0	0	0	0	G	10500429	A	G	10500429	3	3	408	1	0	0	0	0	1	0	0	0	776	159	6	5	249	5	APITD1	1	10500429	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	114061	10500429	238750192	22	77840											
MTOR	2475	broad.mit.edu	37	chr1	11189816	11189816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtgtatcctggaggttgTtgcctcgtgacaaggagatg	8	12	15	6	1	0	3	0	2	0	1	2	5	1	4	2	3	1	3	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:11189816T>C	ENST00000361445.4	-	40	5769	c.5693A>G	c.(5692-5694)aAc>aGc	p.N1898S	MTOR_ENST00000376838.1_Missense_Mutation_p.N103S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1898	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTGGAGGTTGTTGCCTCGTGA	0.507													7	45					0	0	0	0	C	11189816	T	C	11189816	3	2	408	1	0	0	0	0	1	0	0	0	10024	1725	60	5	2032	5	MTOR	1	11189816	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	689387	11189816	238060805	23	77841											
FBXO44	93611	broad.mit.edu	37	chr1	11718437	11718437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaggtcaagaaatacttcGttacttcatattagtaagat	15	13	6	7	1	2	2	2	0	0	2	3	2	2	2	1	1	2	2	1	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:11718437G>A	ENST00000376770.1	+	4	877	c.379G>A	c.(379-381)Gtt>Att	p.V127I	FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000251547.5_Missense_Mutation_p.V127I|FBXO44_ENST00000251546.4_Intron	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	127	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GAAATACTTCGTTACTTCATA	0.532													34	112					0	0	0	0	A	11718437	G	A	11718437	3	1	408	1	0	0	0	0	1	0	0	0	5798	1145	40	1	385	1	FBXO44	1	11718437	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	528621	11718437	237532184	24	77842											
AGTRAP	57085	broad.mit.edu	37	chr1	11808623	11808623	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctcctgctgcttcgtctAccacatgtaccgggagcgcg	5	10	11	15	4	2	0	0	0	2	0	4	1	2	1	3	1	5	4	3	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:11808623A>G	ENST00000314340.5	+	4	374	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	AGTRAP_ENST00000376627.2_Silent_p.L151L|AGTRAP_ENST00000376637.3_Silent_p.L95L|AGTRAP_ENST00000400895.2_Silent_p.L139L|AGTRAP_ENST00000452018.2_Silent_p.L139L|AGTRAP_ENST00000376629.4_Missense_Mutation_p.Y107C|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000510878.1_Missense_Mutation_p.T72A	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	107						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTCGTCTACCACATGTAC	0.657													10	63					0	0	0	0	G	11808623	A	G	11808623	3	3	408	1	0	0	0	0	1	0	0	0	403	391	14	5	435	5	AGTRAP	1	11808623	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	90186	11808623	237441998	25	77843											
VPS13D	55187	broad.mit.edu	37	chr1	12460258	12460258	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggacaatcagctcattggTaccacgcagcccttcatgct	9	10	9	13	1	3	0	3	0	0	0	3	1	3	1	2	2	4	4	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12460258T>C	ENST00000358136.3	+	61	11785	c.11655T>C	c.(11653-11655)ggT>ggC	p.G3885G	VPS13D_ENST00000356315.4_Silent_p.G3860G|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3884					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTCATTGGTACCACGCAGC	0.512													25	68					0	0	0	0	C	12460258	T	C	12460258	2	2	408	1	0	0	0	0	0	0	0	1	17288	1625	57	5		5	VPS13D	1	12460258	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	651635	12460258	236790363	26	77844											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836112	12836112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcaaacttgttctcttCaacatccatgtctctgcctg	7	14	5	15	1	3	0	1	0	2	0	7	0	5	0	3	0	3	2	3	0	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12836112C>A	ENST00000357726.4	+	2	741	c.714C>A	c.(712-714)ttC>ttA	p.F238L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	238										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTTCTCTTCAACATCCATG	0.517													36	132					4.65686e-17	4.89676e-17	1	0	A	12836112	C	A	12836112	3	1	408	1	0	0	0	0	1	0	0	0	12504	825	29	2	720	2	PRAMEF12	1	12836112	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	375854	12836112	236414509	27	77845											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921350	12921350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctcccagctcaccAccttctactttggcagcaat	7	11	7	16	0	2	0	1	0	1	0	3	0	3	0	3	1	5	6	3	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12921350A>G	ENST00000240189.2	+	4	1228	c.1141A>G	c.(1141-1143)Acc>Gcc	p.T381A		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	381										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCTCACCACCTTCTACTT	0.577													18	279					0	0	0	0	G	12921350	A	G	12921350	3	3	408	1	0	0	0	0	1	0	0	0	12512	159	6	5	1151	5	PRAMEF2	1	12921350	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	85238	12921350	236329271	28	77846											
PRAMEF4	400735	broad.mit.edu	37	chr1	12939533	12939533	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagagagtaccatcagcAccataactctcccggggggc	11	5	11	14	1	2	1	1	0	1	1	3	2	2	1	3	3	4	3	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12939533A>G	ENST00000235349.5	-	4	1339	c.1269T>C	c.(1267-1269)ggT>ggC	p.G423G		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	423										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACCATCAGCACCATAACTCT	0.512													20	871					0	0	0	0	G	12939533	A	G	12939533	2	3	408	1	0	0	0	0	0	0	0	1	12516	146	6	5		5	PRAMEF4	1	12939533	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	18183	12939533	236311088	29	77847											
PRAMEF4	400735	broad.mit.edu	37	chr1	12939549	12939549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcaccataactctcccggGgggcaggatacagctccacg	10	5	11	15	2	1	0	0	0	1	0	3	1	2	1	3	4	4	3	3	4	2	2	rs139720767		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12939549G>A	ENST00000235349.5	-	4	1323	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	418										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTCCCGGGGGGCAGGATA	0.517													15	873					0	0	0	0	A	12939549	G	A	12939549	3	1	408	1	0	0	0	0	1	0	0	0	12516	1232	43	4	187	4	PRAMEF4	1	12939549	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	16	12939549	236311072	30	77848											
PRDM2	7799	broad.mit.edu	37	chr1	14105421	14105421	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaacaggggcttgagcgTcacatgcatatccatatatc	13	9	8	11	1	1	1	1	1	0	0	3	1	2	1	2	2	3	2	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:14105421T>C	ENST00000235372.7	+	8	1987	c.1131T>C	c.(1129-1131)cgT>cgC	p.R377R	PRDM2_ENST00000311066.5_Silent_p.R377R|PRDM2_ENST00000343137.4_Silent_p.R176R|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.R176R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	377						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGCTTGAGCGTCACATGCATA	0.453													5	102					0	0	0	0	C	14105421	T	C	14105421	2	2	408	1	0	0	0	0	0	0	0	1	12538	1654	58	5		5	PRDM2	1	14105421	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1165872	14105421	235145200	31	77849											
PRDM2	7799	broad.mit.edu	37	chr1	14105907	14105907	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacccagaacgtgtatgtAccaagcacagagccggagga	13	4	12	12	2	0	2	0	0	0	2	0	4	0	4	4	2	4	3	4	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:14105907A>G	ENST00000235372.7	+	8	2473	c.1617A>G	c.(1615-1617)gtA>gtG	p.V539V	PRDM2_ENST00000311066.5_Silent_p.V539V|PRDM2_ENST00000343137.4_Silent_p.V338V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.V338V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	539				TQNVYVPSTEPEEEGEA -> PRTCMYQAQSRRGRGSR (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACGTGTATGTACCAAGCACAG	0.488													11	70					0	0	0	0	G	14105907	A	G	14105907	2	3	408	1	0	0	0	0	0	0	0	1	12538	378	14	5		5	PRDM2	1	14105907	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	486	14105907	235144714	32	77850											
PRDM2	7799	broad.mit.edu	37	chr1	14107943	14107943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctccacccagataaggTgtgcacacatcacgagtttg	12	9	9	11	1	2	2	1	0	1	2	3	3	2	2	2	1	1	2	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:14107943T>C	ENST00000235372.7	+	8	4509	c.3653T>C	c.(3652-3654)gTg>gCg	p.V1218A	PRDM2_ENST00000311066.5_Missense_Mutation_p.V1218A|PRDM2_ENST00000343137.4_Missense_Mutation_p.V1017A|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.V1017A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1218						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAGATAAGGTGTGCACACAT	0.463													38	136					0	0	0	0	C	14107943	T	C	14107943	3	2	408	1	0	0	0	0	1	0	0	0	12538	1696	59	5	3679	5	PRDM2	1	14107943	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2036	14107943	235142678	33	77851											
PLEKHM2	23207	broad.mit.edu	37	chr1	16053852	16053852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagcacctggtgctccCgtgctgagcccccagaccag	7	5	10	19	1	0	2	0	1	0	1	1	2	1	2	7	1	4	3	7	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16053852C>T	ENST00000375799.3	+	9	1512	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.R409C	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	429					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGTGCTCCCGTGCTGAGCC	0.652													6	13					0	0	0	0	T	16053852	C	T	16053852	3	4	408	1	0	0	0	0	1	0	0	0	12153	652	23	1	1319	1	PLEKHM2	1	16053852	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1945909	16053852	233196769	34	77852											
SPEN	23013	broad.mit.edu	37	chr1	16245473	16245473	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtatgcgtttctgcaatActgtgatattgctagcgttt	8	17	9	7	2	2	1	1	1	1	0	2	1	2	1	0	0	5	5	0	0	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16245473A>G	ENST00000375759.3	+	7	1652	c.1448A>G	c.(1447-1449)tAc>tGc	p.Y483C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	483	RRM 3.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTTCTGCAATACTGTGATATT	0.328													15	42					0	0	0	0	G	16245473	A	G	16245473	3	3	408	1	0	0	0	0	1	0	0	0	15128	391	14	5	1474	5	SPEN	1	16245473	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	191621	16245473	233005148	35	77853											
SPEN	23013	broad.mit.edu	37	chr1	16256223	16256223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaattggcattgacaTcgatcacacgcagagttacc	16	8	8	9	2	1	3	1	1	0	2	2	4	1	3	1	1	1	3	1	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16256223T>A	ENST00000375759.3	+	11	3692	c.3488T>A	c.(3487-3489)aTc>aAc	p.I1163N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1163					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGCATTGACATCGATCACACG	0.398													7	47					0	0	0	0	A	16256223	T	A	16256223	3	1	408	1	0	0	0	0	1	0	0	0	15128	1435	50	5	3530	5	SPEN	1	16256223	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	10750	16256223	232994398	36	77854											
CLCNKA	1187	broad.mit.edu	37	chr1	16353263	16353263	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtctttgcagctccCttcagcggtgagacccccct	6	9	9	17	1	2	1	1	1	1	1	3	2	3	1	5	1	3	2	5	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16353263C>A	ENST00000375692.1	+	8	776	c.648C>A	c.(646-648)ccC>ccA	p.P216P	CLCNKA_ENST00000439316.2_Silent_p.P173P|CLCNKA_ENST00000331433.4_Silent_p.P216P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.P216P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	216					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTGCAGCTCCCTTCAGCGGTG	0.662													28	78					5.45727e-16	5.72372e-16	1	0	A	16353263	C	A	16353263	2	1	408	1	0	0	0	0	0	0	0	1	3499	668	24	4		4	CLCNKA	1	16353263	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	97040	16353263	232897358	37	77855											
CLCNKB	1188	broad.mit.edu	37	chr1	16378219	16378219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggagctgctatcgggCgcctctttggggagactctc	5	9	15	12	2	2	1	0	0	2	1	4	3	2	2	2	5	2	2	2	5	1	2	rs121909133		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16378219C>T	ENST00000375679.4	+	14	1423	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb									p.R438C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTATCGGGCGCCTCTTTGG	0.617													44	159					0	0	0	0	T	16378219	C	T	16378219	3	4	408	1	0	0	0	0	1	0	0	0	3500	768	27	1	1510	1	CLCNKB	1	16378219	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	24956	16378219	232872402	38	77856											
EPHA2	1969	broad.mit.edu	37	chr1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-																															acactcggctctgctgcggcGgggggatgctccaggagacg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16462199delG	ENST00000358432.5	-	6	1533	c.1379delC	c.(1378-1380)cgfs	p.P461fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	461	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGCTGCGGCGGGGGGATGCT	0.667													32	82	---	---	---	---					-	16462199	G	-	16462199	7	5	408	1	0	1	0	1	0	0	0	0	5205	1116	39	0	1599	0	EPHA2	1	16462199	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	83980	16462199	232788422	39	77857											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534495	16534495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgggctgctgaattcCgccccaggcgcagagaagag	8	5	15	13	3	0	3	0	1	0	2	1	4	1	3	4	2	2	3	4	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16534495C>T	ENST00000270747.3	-	3	774	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.R213Q	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	213					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R213Q(1)		cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGAATTCCGCCCCAGGCG	0.672													10	42					0	0	0	0	T	16534495	C	T	16534495	3	4	408	1	0	0	0	0	1	0	0	0	904	652	23	1	1826	1	ARHGEF19	1	16534495	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	72296	16534495	232716126	40	77858											
CROCC	9696	broad.mit.edu	37	chr1	17257070	17257070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcaccgggaggcggCgtggaggcgcgaggaggagg	7	2	24	8	5	0	0	0	0	0	0	0	6	0	5	1	9	1	2	1	9	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17257070C>T	ENST00000375541.5	+	7	899	c.830C>T	c.(829-831)gCg>gTg	p.A277V	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	277					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGGGAGGCGGCGTGGAGGCGC	0.662													9	40					0	0	0	0	T	17257070	C	T	17257070	3	4	408	1	0	0	0	0	1	0	0	0	3923	768	27	1	856	1	CROCC	1	17257070	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	722575	17257070	231993551	41	77859											
CROCC	9696	broad.mit.edu	37	chr1	17265455	17265455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcggctctgagcgcAccgcggatgcttccaacggc	7	6	14	14	5	1	2	0	2	1	0	2	3	2	3	2	3	5	4	2	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17265455A>G	ENST00000375541.5	+	12	1495	c.1426A>G	c.(1426-1428)Acc>Gcc	p.T476A	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	476					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCTGAGCGCACCGCGGATGC	0.726													14	70					0	0	0	0	G	17265455	A	G	17265455	3	3	408	1	0	0	0	0	1	0	0	0	3923	159	6	5	1472	5	CROCC	1	17265455	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	8385	17265455	231985166	42	77860											
CROCC	9696	broad.mit.edu	37	chr1	17275411	17275411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctgctggccaaggaGaccctgactggtacgagggg	7	6	16	12	1	0	2	0	1	0	1	0	4	0	2	3	5	3	3	3	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17275411G>T	ENST00000375541.5	+	19	2895	c.2826G>T	c.(2824-2826)gaG>gaT	p.E942D	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	942					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGGCCAAGGAGACCCTGACTG	0.667													13	53					6.72482e-11	6.97693e-11	1	0	T	17275411	G	T	17275411	3	4	408	1	0	0	0	0	1	0	0	0	3923	933	33	2	2900	2	CROCC	1	17275411	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9956	17275411	231975210	43	77861											
CROCC	9696	broad.mit.edu	37	chr1	17281861	17281861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcccgtgacgggctgCggcgggagctgctggaggcc	5	5	20	11	4	0	1	0	1	0	0	0	4	0	4	2	6	4	3	2	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17281861C>T	ENST00000375541.5	+	24	3589	c.3520C>T	c.(3520-3522)Cgg>Tgg	p.R1174W		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1174					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGACGGGCTGCGGCGGGAGCT	0.721													12	51					0	0	0	0	T	17281861	C	T	17281861	3	4	408	1	0	0	0	0	1	0	0	0	3923	759	27	1	3614	1	CROCC	1	17281861	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	6450	17281861	231968760	44	77862											
CROCC	9696	broad.mit.edu	37	chr1	17292528	17292528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccagtgccctgaatcGccagctggccgagatggagg	9	5	14	13	2	0	3	0	1	0	2	1	5	0	4	5	3	2	1	5	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17292528G>A	ENST00000375541.5	+	29	4679	c.4610G>A	c.(4609-4611)cGc>cAc	p.R1537H		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1537					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCCTGAATCGCCAGCTGGCC	0.632													21	73					0	0	0	0	A	17292528	G	A	17292528	3	1	408	1	0	0	0	0	1	0	0	0	3923	1087	38	1	4724	1	CROCC	1	17292528	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	10667	17292528	231958093	45	77863											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17966735	17966735	+	Frame_Shift_Del	DEL	C	C	-																															cttcatggtggttttcatcaCccccaaccccctgagcaaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17966735delC	ENST00000361221.3	+	21	2369	c.2210delC	c.(2209-2211)acfs	p.T737fs	ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.T698fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.T440fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.T698fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.T732fs|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.T510fs	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	737					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTTTTCATCACCCCCAACCCC	0.582													8	21	---	---	---	---					-	17966735	C	-	17966735	7	5	408	1	0	1	0	1	0	0	0	0	897	507	18	0	2288	0	ARHGEF10L	1	17966735	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	674207	17966735	231283886	46	77864											
ACTL8	81569	broad.mit.edu	37	chr1	18149520	18149520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccatggctgcaagaaccgTtatcattgaccacgggtctg	9	9	11	12	3	2	2	1	1	1	1	2	2	2	2	3	2	2	3	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:18149520T>C	ENST00000375406.1	+	2	233	c.17T>C	c.(16-18)gTt>gCt	p.V6A		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	6						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCAAGAACCGTTATCATTGAC	0.577													8	32					0	0	0	0	C	18149520	T	C	18149520	3	2	408	1	0	0	0	0	1	0	0	0	202	1725	60	5	19	5	ACTL8	1	18149520	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	182785	18149520	231101101	47	77865											
IGSF21	84966	broad.mit.edu	37	chr1	18703432	18703432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctccatgtatcgctgcAccgcccagaacccactgggc	8	7	10	16	2	0	1	0	0	0	1	2	1	1	1	4	2	2	4	4	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:18703432A>G	ENST00000251296.1	+	8	1623	c.1240A>G	c.(1240-1242)Acc>Gcc	p.T414A		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	414	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GTATCGCTGCACCGCCCAGAA	0.662													7	50					0	0	0	0	G	18703432	A	G	18703432	3	3	408	1	0	0	0	0	1	0	0	0	7652	159	6	5	1270	5	IGSF21	1	18703432	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	553912	18703432	230547189	48	77866											
UBR4	23352	broad.mit.edu	37	chr1	19401333	19401333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgtggtggtcaggggActgagttcaacaggtccttc	6	12	15	8	0	2	1	2	1	0	0	4	2	3	2	1	5	2	2	1	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:19401333A>G	ENST00000375267.2	-	107	15611	c.15608T>C	c.(15607-15609)gTc>gCc	p.V5203A	UBR4_ENST00000375254.3_Missense_Mutation_p.V5182A|UBR4_ENST00000543981.1_Missense_Mutation_p.V846A|UBR4_ENST00000375217.2_Missense_Mutation_p.V5175A|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375224.1_Missense_Mutation_p.V889A|UBR4_ENST00000375226.2_Missense_Mutation_p.V5158A|UBR4_ENST00000375225.3_Missense_Mutation_p.V257A|UBR4_ENST00000429347.2_Missense_Mutation_p.V705A			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5182					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			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)		TGGTCAGGGGACTGAGTTCAA	0.562													6	28					0	0	0	0	G	19401333	A	G	19401333	3	3	408	1	0	0	0	0	1	0	0	0	17000	275	10	5	10	5	UBR4	1	19401333	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	697901	19401333	229849288	49	77867											
UBR4	23352	broad.mit.edu	37	chr1	19422136	19422136	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacgcagtaactgaacaatTtcagtagcacctgacaagaa	16	8	7	10	1	2	3	2	2	0	1	2	3	2	3	1	0	3	4	1	0	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:19422136T>A	ENST00000375267.2	-	93	13532	c.13529A>T	c.(13528-13530)aAa>aTa	p.K4510I	UBR4_ENST00000375254.3_Missense_Mutation_p.K4510I|UBR4_ENST00000543981.1_Missense_Mutation_p.K174I|UBR4_ENST00000375217.2_Missense_Mutation_p.K4503I|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375224.1_Missense_Mutation_p.K217I|UBR4_ENST00000375226.2_Missense_Mutation_p.K4486I|UBR4_ENST00000429347.2_Missense_Mutation_p.K73I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4510					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			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)		ACTGAACAATTTCAGTAGCAC	0.493													17	38					0	0	0	0	A	19422136	T	A	19422136	3	1	408	1	0	0	0	0	1	0	0	0	17000	1841	64	5	2078	5	UBR4	1	19422136	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	20803	19422136	229828485	50	77868											
PQLC2	54896	broad.mit.edu	37	chr1	19651169	19651169	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgggcaacatggaccaggcGctgtccctgtggttcctcct	6	9	12	14	2	0	0	0	0	0	0	3	1	3	1	4	4	1	3	4	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:19651169G>A	ENST00000375153.3	+	3	847	c.207G>A	c.(205-207)gcG>gcA	p.A69A	PQLC2_ENST00000400548.2_Silent_p.A4A|PQLC2_ENST00000375155.3_Silent_p.A69A	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	69	PQ-loop 1.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCAGGCGCTGTCCCTGT	0.617													24	90					0	0	0	0	A	19651169	G	A	19651169	2	1	408	1	0	0	0	0	0	0	0	1	12495	1074	38	1		1	PQLC2	1	19651169	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	229033	19651169	229599452	51	77869											
PLA2G2A	5320	broad.mit.edu	37	chr1	20305005	20305005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattcaccaaattcccatggGcctgcagtaggcctggaagg	11	8	11	11	0	1	0	1	0	0	0	2	1	2	1	4	4	1	2	4	4	4	3	rs143609918		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:20305005G>A	ENST00000375111.3	-	4	324	c.53C>T	c.(52-54)gCc>gTc	p.A18V	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.A18V	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	18					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCCATGGGCCTGCAGTAG	0.557													7	52					0	0	0	0	A	20305005	G	A	20305005	3	1	408	1	0	0	0	0	1	0	0	0	12067	1203	42	4	393	4	PLA2G2A	1	20305005	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	653836	20305005	228945616	52	77870											
PLA2G5	5322	broad.mit.edu	37	chr1	20416375	20416375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacagattcgcgtggggCgtggtcacctgcggtaaggc	9	8	15	9	4	1	1	1	0	0	1	2	1	1	1	1	5	2	1	1	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:20416375C>T	ENST00000375108.3	+	4	547	c.279C>T	c.(277-279)ggC>ggT	p.G93G	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	93					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.G93G(2)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGCGTGGGGCGTGGTCACCT	0.582													16	30					0	0	0	0	T	20416375	C	T	20416375	2	4	408	1	0	0	0	0	0	0	0	1	12079	755	27	1		1	PLA2G5	1	20416375	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	111370	20416375	228834246	53	77871											
PLA2G5	5322	broad.mit.edu	37	chr1	20417069	20417069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccttttgcagagcccgggCccttctgccatgtgaacctc	5	11	10	15	1	1	2	0	1	1	1	3	2	2	2	5	1	4	1	5	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:20417069C>A	ENST00000375108.3	+	5	569	c.301C>A	c.(301-303)Ccc>Acc	p.P101T	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	101					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		AGAGCCCGGGCCCTTCTGCCA	0.552													6	153					0.0215528	0.0216729	1	0	A	20417069	C	A	20417069	3	1	408	1	0	0	0	0	1	0	0	0	12079	739	26	4	315	4	PLA2G5	1	20417069	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	694	20417069	228833552	54	77872											
HP1BP3	50809	broad.mit.edu	37	chr1	21074117	21074117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatccacccattcttttcGcatttctgcagggttttttt	5	19	5	12	1	2	0	0	0	2	0	5	0	4	0	3	1	1	3	3	1	0	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:21074117G>A	ENST00000375003.2	-	7	2217	c.717C>T	c.(715-717)tgC>tgT	p.C239C	HP1BP3_ENST00000312239.5_Silent_p.C391C			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	391					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CATTCTTTTCGCATTTCTGCA	0.383													10	42					0	0	0	0	A	21074117	G	A	21074117	2	1	408	1	0	0	0	0	0	0	0	1	7378	1079	38	1		1	HP1BP3	1	21074117	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	657048	21074117	228176504	55	77873											
ECE1	1889	broad.mit.edu	37	chr1	21551831	21551831	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccccgttcacgctgtagTtgctgtactgctctaccatg	5	13	9	14	2	2	0	1	0	1	0	3	0	3	0	3	0	4	8	3	0	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:21551831T>A	ENST00000415912.2	-	17	2029	c.1904A>T	c.(1903-1905)aAc>aTc	p.N635I	ECE1_ENST00000436918.2_Missense_Mutation_p.N651I|ECE1_ENST00000374893.6_Missense_Mutation_p.N651I|ECE1_ENST00000357071.4_Missense_Mutation_p.N639I|ECE1_ENST00000264205.6_Missense_Mutation_p.N648I	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	651					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CACGCTGTAGTTGCTGTACTG	0.632													18	65					0	0	0	0	A	21551831	T	A	21551831	3	1	408	1	0	0	0	0	1	0	0	0	4925	1725	60	5	372	5	ECE1	1	21551831	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	477714	21551831	227698790	56	77874											
RAP1GAP	5909	broad.mit.edu	37	chr1	21936761	21936761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcccgatgtgccgcttcCgctgcaactgagcacaaagc	8	8	10	15	4	0	1	0	1	0	0	2	2	2	1	3	0	5	5	3	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:21936761C>T	ENST00000542643.2	-	15	1153	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.R348Q|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.R315Q|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.R284Q|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.R284Q	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	284	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTGCCGCTTCCGCTGCAACTG	0.617													18	72					0	0	0	0	T	21936761	C	T	21936761	3	4	408	1	0	0	0	0	1	0	0	0	13119	652	23	1	1266	1	RAP1GAP	1	21936761	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	384930	21936761	227313860	57	77875											
HSPG2	3339	broad.mit.edu	37	chr1	22183543	22183543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgtgccctggtccatgGcaaacatgttggagccggtg	6	10	15	10	1	0	0	0	0	0	0	1	1	1	1	3	5	3	3	3	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22183543G>A	ENST00000374695.3	-	44	5619	c.5540C>T	c.(5539-5541)gCc>gTc	p.A1847V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1847	Ig-like C2-type 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGGTCCATGGCAAACATGTT	0.562													6	170					0	0	0	0	A	22183543	G	A	22183543	3	1	408	1	0	0	0	0	1	0	0	0	7483	1203	42	4	7851	4	HSPG2	1	22183543	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	246782	22183543	227067078	58	77876											
CELA3A	10136	broad.mit.edu	37	chr1	22336235	22336235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaactgccccacagaggAtggtggctggcaggtccacg	8	6	13	14	1	1	1	1	0	0	1	2	2	2	2	4	5	2	2	4	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22336235A>G	ENST00000290122.3	+	7	699	c.680A>G	c.(679-681)gAt>gGt	p.D227G		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCACAGAGGATGGTGGCTGG	0.577													19	63					0	0	0	0	G	22336235	A	G	22336235	3	3	408	1	0	0	0	0	1	0	0	0	3242	333	12	5	706	5	CELA3A	1	22336235	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	152692	22336235	226914386	59	77877											
ZBTB40	9923	broad.mit.edu	37	chr1	22835204	22835204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatacgaagggagcctggtgCcgatgctttcttccgggcag	8	9	14	10	3	1	0	0	0	1	0	2	3	2	1	3	3	4	2	3	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22835204C>T	ENST00000404138.1	+	9	2190	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	ZBTB40_ENST00000374651.4_Missense_Mutation_p.A448V|ZBTB40_ENST00000375647.4_Missense_Mutation_p.A560V	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	560					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAGCCTGGTGCCGATGCTTTC	0.542													25	57					0	0	0	0	T	22835204	C	T	22835204	3	4	408	1	0	0	0	0	1	0	0	0	17637	739	26	4	1705	4	ZBTB40	1	22835204	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	498969	22835204	226415417	60	77878											
ZBTB40	9923	broad.mit.edu	37	chr1	22838593	22838593	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcttccagtgacatgTgacctctgtggcagagaatt	11	10	12	8	0	1	4	0	2	1	2	2	5	2	4	2	2	0	2	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22838593T>C	ENST00000404138.1	+	12	2938	c.2427T>C	c.(2425-2427)tgT>tgC	p.C809C	ZBTB40_ENST00000374651.4_Silent_p.C697C|ZBTB40_ENST00000375647.4_Silent_p.C809C	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	809					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGTGACATGTGACCTCTGTG	0.498													19	68					0	0	0	0	C	22838593	T	C	22838593	2	2	408	1	0	0	0	0	0	0	0	1	17637	1702	59	5		5	ZBTB40	1	22838593	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3389	22838593	226412028	61	77879											
ZBTB40	9923	broad.mit.edu	37	chr1	22843857	22843857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctattgagctgtcccgccaCgtgaggacccacaccgggga	8	7	12	14	3	1	2	0	2	1	0	2	4	2	4	4	3	1	1	4	3	1	2	rs148077022	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22843857C>T	ENST00000404138.1	+	14	3244	c.2733C>T	c.(2731-2733)caC>caT	p.H911H	ZBTB40_ENST00000374651.4_Silent_p.H799H|ZBTB40_ENST00000375647.4_Silent_p.H911H	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	911					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTCCCGCCACGTGAGGACCC	0.532													38	104					0	0	0	0	T	22843857	C	T	22843857	2	4	408	1	0	0	0	0	0	0	0	1	17637	535	19	1		1	ZBTB40	1	22843857	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5264	22843857	226406764	62	77880											
EPHA8	2046	broad.mit.edu	37	chr1	22920126	22920126	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggtccgagcccgcacctCagcaggctgtggccgcttca	6	6	12	17	3	2	0	2	0	0	0	3	1	3	0	5	3	2	4	5	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22920126C>G	ENST00000166244.3	+	7	1622	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	517	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCGCACCTCAGCAGGCTGT	0.697													5	13					0	0	0	0	G	22920126	C	G	22920126	4	3	408	1	0	0	0	0	0	1	0	0	5211	838	29	2	1749	2	EPHA8	1	22920126	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	76269	22920126	226330495	63	77881											
EPHA8	2046	broad.mit.edu	37	chr1	22927162	22927162	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccgtcgcagggcgggaaGatccccatccgctggacggc	6	6	15	14	5	0	1	0	0	0	1	4	3	3	3	4	4	0	2	4	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22927162G>A	ENST00000166244.3	+	14	2469	c.2397G>A	c.(2395-2397)aaG>aaA	p.K799K		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	799	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGGCGGGAAGATCCCCATCC	0.667													22	65					0	0	0	0	A	22927162	G	A	22927162	2	1	408	1	0	0	0	0	0	0	0	1	5211	933	33	2		2	EPHA8	1	22927162	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	7036	22927162	226323459	64	77882											
EPHB2	2048	broad.mit.edu	37	chr1	23240212	23240212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcggtgccagccacgagAcgtcaccaagaaaacatgca	15	3	10	13	3	1	2	1	0	0	2	1	3	1	2	3	1	5	1	3	1	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:23240212A>G	ENST00000400191.3	+	17	3035	c.3017A>G	c.(3016-3018)gAc>gGc	p.D1006G	EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_3'UTR|EPHB2_ENST00000374630.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1006					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGCCACGAGACGTCACCAAG	0.562													5	23					0	0	0	0	G	23240212	A	G	23240212	3	3	408	1	0	0	0	0	1	0	0	0	5213	290	10	5		5	EPHB2	1	23240212	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	313050	23240212	226010409	65	77883											
LUZP1	7798	broad.mit.edu	37	chr1	23419686	23419686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatcttccccttctacctCtccattttctaactctttct	6	18	1	16	0	6	0	0	0	6	0	8	0	7	0	4	0	3	1	4	0	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:23419686C>T	ENST00000302291.4	-	4	1870	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	LUZP1_ENST00000374623.3_Missense_Mutation_p.E357K|LUZP1_ENST00000418342.1_Missense_Mutation_p.E357K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E357K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	357						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTTCTACCTCTCCATTTTCT	0.418													29	58					0	0	0	0	T	23419686	C	T	23419686	3	4	408	1	0	0	0	0	1	0	0	0	9150	922	32	2	2169	2	LUZP1	1	23419686	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	179474	23419686	225830935	66	77884											
TCEA3	6920	broad.mit.edu	37	chr1	23751109	23751109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttggcgatcctcagcagCtcctcttcctggcccatgtt	4	15	8	14	1	2	0	1	0	1	0	5	1	5	0	4	2	2	3	4	2	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:23751109C>T	ENST00000450454.2	-	1	124	c.18G>A	c.(16-18)gaG>gaA	p.E6E	TCEA3_ENST00000374601.3_Silent_p.E6E	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	6	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TCCTCAGCAGCTCCTCTTCCT	0.721													22	91					0	0	0	0	T	23751109	C	T	23751109	2	4	408	1	0	0	0	0	0	0	0	1	15763	796	28	4		4	TCEA3	1	23751109	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	331423	23751109	225499512	67	77885											
MYOM3	127294	broad.mit.edu	37	chr1	24390588	24390588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggtccaatatggtgTcgtcctcccctcgatcgtca	6	11	10	14	4	1	1	1	1	0	0	7	2	4	1	5	2	0	0	5	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:24390588T>C	ENST00000330966.7	-	30	3767	c.3605A>G	c.(3604-3606)gAc>gGc	p.D1202G	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.D92G|MYOM3_ENST00000374434.3_Missense_Mutation_p.D1199G			Q5VTT5	MYOM3_HUMAN	myomesin 3	1199	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAATATGGTGTCGTCCTCCCC	0.547													20	68					0	0	0	0	C	24390588	T	C	24390588	3	2	408	1	0	0	0	0	1	0	0	0	10163	1667	58	5	749	5	MYOM3	1	24390588	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	639479	24390588	224860033	68	77886											
RHD	6007	broad.mit.edu	37	chr1	25599124	25599125	+	Frame_Shift_Ins	INS	-	-	T																															gctctcattctcctcttctaINStttttttacccactatgacg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:25599124_25599125insT	ENST00000328664.4	+	1	241_242	c.86_87insT	c.(85-87)tttfs	p.F29fs	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Frame_Shift_Ins_p.F29fs|RHD_ENST00000357542.4_Frame_Shift_Ins_p.F29fs|RHD_ENST00000342055.5_Frame_Shift_Ins_p.F29fs|RHD_ENST00000568195.1_Frame_Shift_Ins_p.F29fs|RHD_ENST00000454452.2_Frame_Shift_Ins_p.F29fs|RHD_ENST00000423810.2_Frame_Shift_Ins_p.F29fs	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	29						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCCTCTTCTATTTTTTTACCC	0.52													11	221	---	---	---	---					T	25599125	-	T	25599124	7	5	408	1	0	1	1	0	0	0	0	0	13410	449	16	0	88	0	RHD	1	25599124	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	1208536	25599124	223651497	69	77887											
RHCE	6006	broad.mit.edu	37	chr1	25747184	25747185	+	Frame_Shift_Ins	INS	-	-	A																															aaggaagcgtcatagtgggtINSaaaaaaatagaagaggagaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:25747184_25747185insA	ENST00000294413.7	-	1	151_152	c.93_94insT	c.(91-96)ttcccafs	p.FP31fs	RHCE_ENST00000349438.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000346452.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000425135.1_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000340849.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000413854.1_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000455194.1_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000349320.3_Intron|RHCE_ENST00000243186.6_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000495048.1_5'UTR	NM_020485.4	NP_065231.3	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	31						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TCATAGTGGGTAAAAAAATAGA	0.535													28	98	---	---	---	---					A	25747185	-	A	25747184	7	5	408	1	0	1	1	0	0	0	0	0	13408	1638	57	0	1199	0	RHCE	1	25747184	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	148060	25747184	223503437	70	77888											
SEPN1	57190	broad.mit.edu	37	chr1	26136267	26136267	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcatcctctccaaagaCgccacccacgtccgcgactt	10	7	5	19	4	2	1	1	0	1	1	5	2	4	1	5	0	0	0	5	0	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:26136267C>T	ENST00000361547.2	+	7	1021	c.966C>T	c.(964-966)gaC>gaT	p.D322D	SEPN1_ENST00000354177.4_Silent_p.D288D|SEPN1_ENST00000374315.1_Silent_p.D288D	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	322						endoplasmic reticulum membrane|extracellular region	protein binding	p.D322D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCAAAGACGCCACCCACG	0.632													42	131					0	0	0	0	T	26136267	C	T	26136267	2	4	408	1	0	0	0	0	0	0	0	1	14143	535	19	1		1	SEPN1	1	26136267	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	389083	26136267	223114354	71	77889											
LIN28A	79727	broad.mit.edu	37	chr1	26752828	26752828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagagcatcagccataTggtagcctcatgtccgctga	9	9	10	13	1	2	2	2	1	0	1	3	2	3	2	4	1	4	3	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:26752828T>C	ENST00000326279.6	+	4	623	c.509T>C	c.(508-510)aTg>aCg	p.M170T	LIN28A_ENST00000254231.4_Missense_Mutation_p.M170T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	170					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ATCAGCCATATGGTAGCCTCA	0.547													14	123					0	0	0	0	C	26752828	T	C	26752828	3	2	408	1	0	0	0	0	1	0	0	0	8860	1464	51	5	523	5	LIN28A	1	26752828	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	616561	26752828	222497793	72	77890											
RPS6KA1	6195	broad.mit.edu	37	chr1	26878180	26878180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattctggacttcctgcGtggtggggacctcttcaccc	4	13	10	14	1	4	0	2	0	3	0	6	2	5	2	3	4	1	0	3	4	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:26878180G>A	ENST00000374168.2	+	6	588	c.434G>A	c.(433-435)cGt>cAt	p.R145H	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R154H|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R53H|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R145H|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R129H|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R53H	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	145	Protein kinase 1.				axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GACTTCCTGCGTGGTGGGGAC	0.592													24	71					0	0	0	0	A	26878180	G	A	26878180	3	1	408	1	0	0	0	0	1	0	0	0	13735	1145	40	1	595	1	RPS6KA1	1	26878180	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	125352	26878180	222372441	73	77891											
SLC9A1	6548	broad.mit.edu	37	chr1	27426906	27426906	+	Frame_Shift_Del	DEL	G	G	-																															ctggggctgtcactgggcgcGggggtgaagacatcgtcggt																								rs147891871		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27426906delG	ENST00000263980.3	-	12	2915	c.2340delC	c.(2338-2340)ccfs	p.P780fs	SLC9A1_ENST00000545949.1_Frame_Shift_Del_p.P441fs	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	780					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CACTGGGCGCGGGGGTGAAGA	0.637													31	131	---	---	---	---					-	27426906	G	-	27426906	7	5	408	1	0	1	0	1	0	0	0	0	14797	1103	39	0	111	0	SLC9A1	1	27426906	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	548726	27426906	221823715	74	77892											
MAP3K6	9064	broad.mit.edu	37	chr1	27687448	27687448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctccgcctcctccgcGggcgccgtggaatccgggtt	2	7	14	18	7	0	0	0	0	0	0	4	1	4	1	7	3	0	1	7	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27687448G>A	ENST00000493901.1	-	15	2123	c.1884C>T	c.(1882-1884)ccC>ccT	p.P628P	MAP3K6_ENST00000357582.2_Silent_p.P628P|MAP3K6_ENST00000374040.3_Silent_p.P620P	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	628					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCCTCCGCGGGCGCCGTGG	0.721													16	29					0	0	0	0	A	27687448	G	A	27687448	2	1	408	1	0	0	0	0	0	0	0	1	9323	1103	39	1		1	MAP3K6	1	27687448	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	260542	27687448	221563173	75	77893											
MAP3K6	9064	broad.mit.edu	37	chr1	27691380	27691380	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggctgtaccagcgagcTgctcacctccagcaccacca	9	5	11	16	1	1	0	1	0	0	0	2	2	2	1	5	2	5	5	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27691380T>C	ENST00000493901.1	-	3	603	c.364A>G	c.(364-366)Agc>Ggc	p.S122G	MAP3K6_ENST00000357582.2_Missense_Mutation_p.S122G|MAP3K6_ENST00000374040.3_Missense_Mutation_p.S122G	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	122					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCAGCGAGCTGCTCACCTCC	0.622													19	56					0	0	0	0	C	27691380	T	C	27691380	3	2	408	1	0	0	0	0	1	0	0	0	9323	1580	55	5	3614	5	MAP3K6	1	27691380	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3932	27691380	221559241	76	77894											
AHDC1	27245	broad.mit.edu	37	chr1	27877191	27877191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcgatacggggatcttgGccatcttcaccaccatgcgc	8	8	10	15	3	3	0	1	0	2	0	3	2	3	1	4	3	3	0	4	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27877191G>A	ENST00000374011.2	-	6	2404	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A479V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	479							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGGATCTTGGCCATCTTCAC	0.622													9	27					0	0	0	0	A	27877191	G	A	27877191	3	1	408	1	0	0	0	0	1	0	0	0	412	1203	42	4	3379	4	AHDC1	1	27877191	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	185811	27877191	221373430	77	77895											
AHDC1	27245	broad.mit.edu	37	chr1	27877213	27877213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcttcaccaccatgcgccGcacgccccggcacttgcctt	6	8	7	20	4	2	0	1	0	1	0	2	0	2	0	6	1	2	2	6	1	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27877213G>A	ENST00000374011.2	-	6	2382	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R472W	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	472							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ACCATGCGCCGCACGCCCCGG	0.627													9	28					0	0	0	0	A	27877213	G	A	27877213	3	1	408	1	0	0	0	0	1	0	0	0	412	1086	38	1	3401	1	AHDC1	1	27877213	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	22	27877213	221373408	78	77896											
FGR	2268	broad.mit.edu	37	chr1	27941035	27941035	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaccaggatgttggcTgccctcaggtcgcggtgaat	7	9	12	13	2	1	1	1	1	0	0	3	2	2	2	4	4	2	2	4	4	2	1	rs143532619		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27941035T>C	ENST00000374005.3	-	11	1443	c.1155A>G	c.(1153-1155)gcA>gcG	p.A385A	FGR_ENST00000374004.1_Silent_p.A385A|FGR_ENST00000545953.1_Silent_p.A319A|FGR_ENST00000399173.1_Silent_p.A385A	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	385	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-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;1.25e-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)		GGATGTTGGCTGCCCTCAGGT	0.592													4	19					0	0	0	0	C	27941035	T	C	27941035	2	2	408	1	0	0	0	0	0	0	0	1	5919	1567	55	5		5	FGR	1	27941035	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	63822	27941035	221309586	79	77897											
PUM1	9698	broad.mit.edu	37	chr1	31437751	31437751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccactgccagtgttggagTttgcaactaaaatggaatta	13	11	10	7	0	0	0	0	0	0	0	0	2	0	2	2	2	4	3	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:31437751T>C	ENST00000373747.3	-	14	2195	c.2096A>G	c.(2095-2097)aAc>aGc	p.N699S	PUM1_ENST00000440538.2_Missense_Mutation_p.N672S|PUM1_ENST00000257075.5_Missense_Mutation_p.N698S|PUM1_ENST00000426105.2_Missense_Mutation_p.N698S|PUM1_ENST00000424085.2_Missense_Mutation_p.N456S|PUM1_ENST00000423018.2_Missense_Mutation_p.N554S|PUM1_ENST00000373741.4_Missense_Mutation_p.N734S|PUM1_ENST00000373742.2_Missense_Mutation_p.N639S	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	698	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			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)		AGTGTTGGAGTTTGCAACTAA	0.483													14	63					0	0	0	0	C	31437751	T	C	31437751	3	2	408	1	0	0	0	0	1	0	0	0	12907	1725	60	5	1509	5	PUM1	1	31437751	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3496716	31437751	217812870	80	77898											
COL16A1	1307	broad.mit.edu	37	chr1	32157018	32157018	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaagggggtactcacCggggtcccaggcagtcctat	10	6	14	11	1	1	1	1	0	0	1	3	1	3	1	3	5	2	3	3	5	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32157018C>T	ENST00000373672.3	-	19	1914	c.1398_splice	c.e19+1	p.P466_splice	COL16A1_ENST00000373668.3_Splice_Site_p.P466_splice|COL16A1_ENST00000271069.6_Splice_Site_p.P466_splice	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	466	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGTACTCACCGGGGTCCCAG	0.667													19	51					0	0	0	0	T	32157018	C	T	32157018	5	4	408	1	0	0	0	0	0	0	1	0	3703	666	23	1	3628	1	COL16A1	1	32157018	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	719267	32157018	217093603	81	77899											
COL16A1	1307	broad.mit.edu	37	chr1	32163578	32163578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcctcatgggtcgtcgggGccccagaggctgggaggagg	6	5	20	10	2	1	1	1	0	0	1	3	3	1	3	3	8	0	1	3	8	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32163578G>A	ENST00000373672.3	-	6	1102	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	COL16A1_ENST00000373668.3_Missense_Mutation_p.P196S|COL16A1_ENST00000271069.6_Missense_Mutation_p.P196S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	196	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGTCGTCGGGGCCCCAGAGGC	0.622													16	65					0	0	0	0	A	32163578	G	A	32163578	3	1	408	1	0	0	0	0	1	0	0	0	3703	1203	42	4	4492	4	COL16A1	1	32163578	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6560	32163578	217087043	82	77900											
BAI2	576	broad.mit.edu	37	chr1	32221928	32221928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgggcgccagcaggcgCggggcctcggagggctcagc	5	2	20	14	5	1	0	1	0	0	0	2	1	1	1	2	6	3	3	2	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32221928C>T	ENST00000373658.3	-	4	851	c.510G>A	c.(508-510)ccG>ccA	p.P170P	BAI2_ENST00000398538.1_Silent_p.P158P|BAI2_ENST00000257070.4_Silent_p.P170P|BAI2_ENST00000373655.2_Silent_p.P170P|BAI2_ENST00000398547.1_Silent_p.P158P|BAI2_ENST00000527361.1_Silent_p.P170P|BAI2_ENST00000398542.1_Silent_p.P158P|BAI2_ENST00000398556.3_Silent_p.P173P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	170					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCAGCAGGCGCGGGGCCTCGG	0.622													27	79					0	0	0	0	T	32221928	C	T	32221928	2	4	408	1	0	0	0	0	0	0	0	1	1303	755	27	1		1	BAI2	1	32221928	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	58350	32221928	217028693	83	77901											
SPOCD1	90853	broad.mit.edu	37	chr1	32267263	32267263	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataataaaatgtaaaaacctAcgtagcacacaagcttcact	19	9	4	9	1	1	0	1	0	0	0	1	0	1	0	1	0	4	4	1	0	9	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32267263A>G	ENST00000360482.2	-	3	1555		c.e3+1		SPOCD1_ENST00000257100.3_Splice_Site|SPOCD1_ENST00000373648.2_Splice_Site|SPOCD1_ENST00000533231.1_Splice_Site	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1						transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GTAAAAACCTACGTAGCACAC	0.507													30	97					0	0	0	0	G	32267263	A	G	32267263	5	3	408	1	0	0	0	0	0	0	1	0	15168	405	14	5	2279	5	SPOCD1	1	32267263	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	45335	32267263	216983358	84	77902											
TMEM39B	55116	broad.mit.edu	37	chr1	32568241	32568241	+	Frame_Shift_Del	DEL	C	C	-																															gcctactcatactctgctagCccccagagagacctggacca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32568241delC	ENST00000336294.5	+	9	1592	c.1446delC	c.(1444-1446)agfs	p.S482fs	TMEM39B_ENST00000373634.4_Frame_Shift_Del_p.S283fs|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	482						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACTCTGCTAGCCCCCAGAGAG	0.607													22	88	---	---	---	---					-	32568241	C	-	32568241	7	5	408	1	0	1	0	1	0	0	0	0	16256	738	26	0	1480	0	TMEM39B	1	32568241	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	300978	32568241	216682380	85	77903											
DCDC2B	149069	broad.mit.edu	37	chr1	32674856	32674856	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccccactggctgtgcgTgccctctacacaccttgtca	6	9	9	17	1	2	0	1	0	1	0	2	0	2	0	4	2	3	1	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32674856T>C	ENST00000409358.1	+	1	162	c.162T>C	c.(160-162)cgT>cgC	p.R54R		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	54	Doublecortin 1.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGCTGTGCGTGCCCTCTACA	0.602													25	74					0	0	0	0	C	32674856	T	C	32674856	2	2	408	1	0	0	0	0	0	0	0	1	4318	1683	59	5		5	DCDC2B	1	32674856	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	106615	32674856	216575765	86	77904											
ZBTB8A	653121	broad.mit.edu	37	chr1	33058778	33058778	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttacagttatcttggacttCgtatattctggcaaactgtc	9	17	7	8	1	2	0	0	0	2	0	4	1	2	1	0	2	2	3	0	2	5	8	rs144529739		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:33058778C>T	ENST00000373510.4	+	3	475	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ZBTB8A_ENST00000316459.4_Silent_p.F82F|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	82	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F82F(1)		cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCTTGGACTTCGTATATTCTG	0.413													35	129					0	0	0	0	T	33058778	C	T	33058778	2	4	408	1	0	0	0	0	0	0	0	1	17651	883	31	1		1	ZBTB8A	1	33058778	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	383922	33058778	216191843	87	77905											
KIAA1522	57648	broad.mit.edu	37	chr1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-																															tcttctttcccagtgggcgaCccccccacctggaagagctg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:33233495delC	ENST00000401073.2	+	2	413	c.343delC	c.(343-345)ccfs	p.P116fs	KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.P57fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	57										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGTGGGCGACCCCCCCACCT	0.612													74	82	---	---	---	---					-	33233495	C	-	33233495	7	5	408	1	0	1	0	1	0	0	0	0	8289	507	18	0	349	0	KIAA1522	1	33233495	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	174717	33233495	216017126	88	77906											
PHC2	1912	broad.mit.edu	37	chr1	33790497	33790497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagcatgctgatgcgggcgTagatcttcagggcgggcccc	6	8	16	11	3	2	3	1	2	1	1	2	3	2	3	2	3	3	3	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:33790497T>C	ENST00000257118.5	-	14	2599	c.2546A>G	c.(2545-2547)tAc>tGc	p.Y849C	PHC2_ENST00000431992.1_Missense_Mutation_p.Y820C|PHC2_ENST00000419414.2_Missense_Mutation_p.Y850C|PHC2_ENST00000373418.3_Missense_Mutation_p.Y314C|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000373422.3_Missense_Mutation_p.Y455C|RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	849	SAM.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GATGCGGGCGTAGATCTTCAG	0.627													22	74					0	0	0	0	C	33790497	T	C	33790497	3	2	408	1	0	0	0	0	1	0	0	0	11889	1638	57	5	34	5	PHC2	1	33790497	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	557002	33790497	215460124	89	77907											
PHC2	1912	broad.mit.edu	37	chr1	33841032	33841032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcccggtggggcggccacTtccaccactgctgctgttgt	3	9	15	14	2	0	0	0	0	0	0	1	0	1	0	4	5	2	3	4	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:33841032T>C	ENST00000257118.5	-	1	162	c.109A>G	c.(109-111)Agt>Ggt	p.S37G	PHC2_ENST00000419414.2_Missense_Mutation_p.S37G|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.S37G	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	37	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGgcggccacttccaccactg	0.567													31	81					0	0	0	0	C	33841032	T	C	33841032	3	2	408	1	0	0	0	0	1	0	0	0	11889	1609	56	5	2523	5	PHC2	1	33841032	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	50535	33841032	215409589	90	77908											
GJB4	127534	broad.mit.edu	37	chr1	35226920	35226920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtactccacagtgctgagccGcatctggctgtctgtggtgt	5	12	13	11	1	2	1	0	1	2	0	3	1	3	1	2	2	3	4	2	2	1	1	rs80358212		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35226920G>A	ENST00000339480.1	+	2	435	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	22					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.R22L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGCTGAGCCGCATCTGGCTG	0.577													14	40					0	0	0	0	A	35226920	G	A	35226920	3	1	408	1	0	0	0	0	1	0	0	0	6461	1087	38	1	67	1	GJB4	1	35226920	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1385888	35226920	214023701	91	77909											
DLGAP3	58512	broad.mit.edu	37	chr1	35351777	35351777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaggtagctgtggctcCgcatgcggaaacagccgggc	7	5	16	13	4	0	0	0	0	0	0	1	2	1	2	3	5	4	4	3	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35351777C>T	ENST00000373347.1	-	6	1764	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R499Q			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	499					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCTGTGGCTCCGCATGCGGAA	0.697													10	19					0	0	0	0	T	35351777	C	T	35351777	3	4	408	1	0	0	0	0	1	0	0	0	4598	652	23	1	1471	1	DLGAP3	1	35351777	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	124857	35351777	213898844	92	77910											
DLGAP3	58512	broad.mit.edu	37	chr1	35365747	35365747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggagatgtcttggggCtgccgtctgagtctccgctc	3	13	14	11	2	3	2	0	1	3	1	5	3	3	2	2	3	1	2	2	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35365747C>T	ENST00000373347.1	-	4	1503	c.1235G>A	c.(1234-1236)aGc>aAc	p.S412N	DLGAP3_ENST00000235180.4_Missense_Mutation_p.S412N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	412					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGTCTTGGGGCTGCCGTCTGA	0.657													11	175					0	0	0	0	T	35365747	C	T	35365747	3	4	408	1	0	0	0	0	1	0	0	0	4598	797	28	4	1740	4	DLGAP3	1	35365747	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	13970	35365747	213884874	93	77911											
ZMYM6	9204	broad.mit.edu	37	chr1	35480372	35480372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagagctactatagcaatAgctcccacagttctcacaac	14	8	5	14	0	1	1	1	0	1	1	3	1	2	1	2	0	5	4	2	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35480372A>G	ENST00000357182.4	-	6	948	c.721T>C	c.(721-723)Tat>Cat	p.Y241H	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.Y241H|ZMYM6_ENST00000487874.1_Missense_Mutation_p.Y241H	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	241					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CTATAGCAATAGCTCCCACAG	0.393													18	61					0	0	0	0	G	35480372	A	G	35480372	3	3	408	1	0	0	0	0	1	0	0	0	17799	420	15	5	3300	5	ZMYM6	1	35480372	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	114625	35480372	213770249	94	77912											
ZMYM6	9204	broad.mit.edu	37	chr1	35484929	35484929	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actaaaaaaaaggtaaagtaAaaagggatgttaagaatttt	22	10	8	1	0	0	1	0	0	0	1	0	2	0	2	0	2	0	3	0	2	11	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35484929A>G	ENST00000317538.5	-	4	617	c.453T>C	c.(451-453)ttT>ttC	p.F151F	ZMYM6_ENST00000373333.1_Silent_p.F151F|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000357182.4_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron			O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	331					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGGTAAAGTAAAAAGGGATGT	0.358													22	80					0	0	0	0	G	35484929	A	G	35484929	2	3	408	1	0	0	0	0	0	0	0	1	17799	29	1	5		5	ZMYM6	1	35484929	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4557	35484929	213765692	95	77913											
SFPQ	6421	broad.mit.edu	37	chr1	35653605	35653605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccattcggctgtaacttTcctctctttggcgcctcatt	5	15	7	14	2	2	0	1	0	1	0	5	0	3	0	3	2	2	2	3	2	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35653605T>C	ENST00000357214.5	-	7	1882	c.1784A>G	c.(1783-1785)gAa>gGa	p.E595G		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	595					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCTGTAACTTTCCTCTCTTTG	0.453			T	TFE3	papillary renal cell								40	155					0	0	0	0	C	35653605	T	C	35653605	3	2	408	1	0	0	0	0	1	0	0	0	14247	1783	62	5	355	5	SFPQ	1	35653605	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	168676	35653605	213597016	96	77914											
KIAA0319L	79932	broad.mit.edu	37	chr1	35920007	35920007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcagtggcctgctgtcctAttgtgtcagtcactgtgagc	6	12	13	10	0	2	1	2	1	0	0	3	2	3	1	2	1	3	2	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35920007A>G	ENST00000325722.3	-	11	1970	c.1736T>C	c.(1735-1737)aTa>aCa	p.I579T	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I16T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	579	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCTGTCCTATTGTGTCAGT	0.473													20	63					0	0	0	0	G	35920007	A	G	35920007	3	3	408	1	0	0	0	0	1	0	0	0	8220	449	16	5	1457	5	KIAA0319L	1	35920007	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	266402	35920007	213330614	97	77915											
KIAA0319L	79932	broad.mit.edu	37	chr1	35936545	35936545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtaatcagctgccagtcGtaggtgtaggtttctcctat	8	14	11	8	1	2	1	1	1	1	0	4	1	2	1	2	2	2	5	2	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35936545G>A	ENST00000325722.3	-	6	1266	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	344	PKD 1.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTGCCAGTCGTAGGTGTAGG	0.433													30	94					0	0	0	0	A	35936545	G	A	35936545	2	1	408	1	0	0	0	0	0	0	0	1	8220	1140	40	1		1	KIAA0319L	1	35936545	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	16538	35936545	213314076	98	77916											
TFAP2E	339488	broad.mit.edu	37	chr1	36056327	36056327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtacctgtgccgacagcacGctgacccgggggagctgcac	8	5	14	14	3	0	1	0	1	0	0	0	3	0	2	3	2	5	5	3	2	1	1	rs142726594		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:36056327G>A	ENST00000373235.3	+	6	1205	c.997G>A	c.(997-999)Gct>Act	p.A333T		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	333	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCGACAGCACGCTGACCCGGG	0.657													7	17					0	0	0	0	A	36056327	G	A	36056327	3	1	408	1	0	0	0	0	1	0	0	0	15885	1087	38	1	1019	1	TFAP2E	1	36056327	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	119782	36056327	213194294	99	77917											
LSM10	84967	broad.mit.edu	37	chr1	36859552	36859552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgcccccaacggtccGtgtaggtgactttggccagg	6	9	13	13	2	0	2	0	2	0	0	1	2	1	2	5	4	2	1	5	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:36859552G>A	ENST00000315732.2	-	2	328	c.179C>T	c.(178-180)aCg>aTg	p.T60M	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	60					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				CCAACGGTCCGTGTAGGTGAC	0.577													21	85					0	0	0	0	A	36859552	G	A	36859552	3	1	408	1	0	0	0	0	1	0	0	0	9115	1145	40	1	196	1	LSM10	1	36859552	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	803225	36859552	212391069	100	77918											
MRPS15	64960	broad.mit.edu	37	chr1	36926325	36926325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatctggtgtcctctgggTttgcaacaatcttcttcata	7	15	10	9	0	5	0	1	0	4	0	6	1	6	1	1	3	2	2	1	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:36926325T>C	ENST00000373116.5	-	5	514	c.353A>G	c.(352-354)aAc>aGc	p.N118S		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	118					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCCTCTGGGTTTGCAACAAT	0.517													6	84					0	0	0	0	C	36926325	T	C	36926325	3	2	408	1	0	0	0	0	1	0	0	0	9895	1725	60	5	436	5	MRPS15	1	36926325	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	66773	36926325	212324296	101	77919											
SNIP1	79753	broad.mit.edu	37	chr1	38019681	38019681	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcggagacgggctaccAccggagtggtccggacggcg	6	4	19	12	7	0	1	0	0	0	1	2	4	1	3	3	7	1	1	3	7	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:38019681A>G	ENST00000296215.6	-	1	222	c.150T>C	c.(148-150)ggT>ggC	p.G50G	SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	50					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				ACGGGCTACCACCGGAGTGGT	0.731													9	17					0	0	0	0	G	38019681	A	G	38019681	2	3	408	1	0	0	0	0	0	0	0	1	14936	146	6	5		5	SNIP1	1	38019681	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1093356	38019681	211230940	102	77920											
EPHA10	284656	broad.mit.edu	37	chr1	38227230	38227230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttccggccacttccaccaGtgtggagaaggcgctctcgg	6	8	13	14	4	1	1	0	0	1	1	4	2	3	1	4	4	0	2	4	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:38227230G>A	ENST00000373048.4	-	3	696	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	EPHA10_ENST00000319637.6_Silent_p.L233L|EPHA10_ENST00000427468.2_Silent_p.L233L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	233						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACTTCCACCAGTGTGGAGAAG	0.711													16	33					0	0	0	0	A	38227230	G	A	38227230	2	1	408	1	0	0	0	0	0	0	0	1	5204	1020	36	4		4	EPHA10	1	38227230	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	207549	38227230	211023391	103	77921											
MANEAL	149175	broad.mit.edu	37	chr1	38265637	38265637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatacgcgcaacagggTcaatggcaagtactatgaga	15	6	10	10	2	1	1	1	1	0	1	1	2	1	1	1	2	3	3	1	2	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:38265637T>C	ENST00000373045.6	+	4	1517	c.1136T>C	c.(1135-1137)gTc>gCc	p.V379A	MANEAL_ENST00000329006.5_Missense_Mutation_p.V157A|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.V185A|RP11-109P14.9_ENST00000433474.1_RNA	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	379						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCAACAGGGTCAATGGCAAG	0.562													20	98					0	0	0	0	C	38265637	T	C	38265637	3	2	408	1	0	0	0	0	1	0	0	0	9291	1667	58	5	1150	5	MANEAL	1	38265637	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38407	38265637	210984984	104	77922											
YRDC	79693	broad.mit.edu	37	chr1	38272869	38272869	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttcaggagcccctcaggTactctcacacggcagtatct	8	11	8	14	1	5	0	3	0	3	0	6	1	5	1	2	3	2	3	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:38272869T>C	ENST00000373044.2	-	2	412	c.408A>G	c.(406-408)gtA>gtG	p.V136V	C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	136	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCCCCTCAGGTACTCTCACAC	0.507													29	59					0	0	0	0	C	38272869	T	C	38272869	2	2	408	1	0	0	0	0	0	0	0	1	17590	1625	57	5		5	YRDC	1	38272869	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7232	38272869	210977752	105	77923											
RRAGC	64121	broad.mit.edu	37	chr1	39322560	39322560	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgactacctgtgcgtcAatgacgtatatcaatgctcc	10	13	7	11	2	2	2	2	2	0	0	3	2	3	2	2	0	4	2	2	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:39322560A>G	ENST00000373001.3	-	2	608	c.432T>C	c.(430-432)atT>atC	p.I144I		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	144					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CCTGTGCGTCAATGACGTATA	0.403													36	83					0	0	0	0	G	39322560	A	G	39322560	2	3	408	1	0	0	0	0	0	0	0	1	13759	126	5	5		5	RRAGC	1	39322560	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1049691	39322560	209928061	106	77924											
RRAGC	64121	broad.mit.edu	37	chr1	39322675	39322675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaattcacaaaggagctaTtggaaatgtcatccttataa	16	11	8	6	0	2	0	2	0	0	0	3	3	3	3	1	3	1	1	1	3	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:39322675T>C	ENST00000373001.3	-	2	493	c.317A>G	c.(316-318)aAt>aGt	p.N106S		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	106					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAAGGAGCTATTGGAAATGTC	0.403													5	162					0	0	0	0	C	39322675	T	C	39322675	3	2	408	1	0	0	0	0	1	0	0	0	13759	1493	52	5	906	5	RRAGC	1	39322675	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	115	39322675	209927946	107	77925											
RHBDL2	54933	broad.mit.edu	37	chr1	39384785	39384785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgatctttacctccccCatcctctctcattttctcct	4	15	3	19	1	4	0	1	0	3	0	8	1	6	0	6	1	1	0	6	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:39384785C>T	ENST00000289248.2	-	2	1108	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	RHBDL2_ENST00000372985.3_Missense_Mutation_p.G114R|RHBDL2_ENST00000540558.1_Missense_Mutation_p.G34R|RHBDL2_ENST00000538156.1_Missense_Mutation_p.G101R|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G34R			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	34					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTACCTCCCCCATCCTCTCTC	0.473													37	130					0	0	0	0	T	39384785	C	T	39384785	3	4	408	1	0	0	0	0	1	0	0	0	13405	594	21	4	839	4	RHBDL2	1	39384785	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	62110	39384785	209865836	108	77926											
BMP8B	656	broad.mit.edu	37	chr1	40230438	40230438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgaaaggctgttgggagCgtggggcccgttgacccagc	7	6	16	12	3	0	1	0	1	0	0	0	3	0	2	3	4	2	3	3	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:40230438C>T	ENST00000372827.3	-	4	1100	c.725G>A	c.(724-726)cGc>cAc	p.R242H	BMP8B_ENST00000397360.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	242					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGTTGGGAGCGTGGGGCCCG	0.657													17	115					0	0	0	0	T	40230438	C	T	40230438	3	4	408	1	0	0	0	0	1	0	0	0	1472	768	27	1	499	1	BMP8B	1	40230438	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	845653	40230438	209020183	109	77927											
OXCT2	64064	broad.mit.edu	37	chr1	40235542	40235542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgatgatgcggtccacGcaccgcttcccggtcagcgg	5	8	14	14	6	1	2	1	2	0	0	4	2	3	2	3	4	2	2	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:40235542G>A	ENST00000327582.5	-	1	1478	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	462					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TGCGGTCCACGCACCGCTTCC	0.587													12	67					0	0	0	0	A	40235542	G	A	40235542	2	1	408	1	0	0	0	0	0	0	0	1	11401	1079	38	1		1	OXCT2	1	40235542	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5104	40235542	209015079	110	77928											
CAP1	10487	broad.mit.edu	37	chr1	40535434	40535434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagagtggtccagtacGcagtggccccaaaccattct	9	8	11	13	1	2	1	1	0	1	1	3	1	3	1	4	3	2	3	4	3	2	2	rs35749351		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:40535434G>A	ENST00000372797.3	+	9	1442	c.881G>A	c.(880-882)cGc>cAc	p.R294H	CAP1_ENST00000372798.1_Missense_Mutation_p.R293H|CAP1_ENST00000372792.2_Missense_Mutation_p.R294H|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372805.3_Missense_Mutation_p.R294H|CAP1_ENST00000372802.1_Missense_Mutation_p.R293H|CAP1_ENST00000340450.3_Missense_Mutation_p.R293H	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	294					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTCCAGTACGCAGTGGCCCC	0.522													58	198					0	0	0	0	A	40535434	G	A	40535434	3	1	408	1	0	0	0	0	1	0	0	0	2644	1087	38	1	911	1	CAP1	1	40535434	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	299892	40535434	208715187	111	77929											
ZNF684	127396	broad.mit.edu	37	chr1	41012480	41012480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacgcttatgaatgcaGtgaatgcgggaaagccttca	15	8	11	7	2	1	3	1	2	0	1	1	4	1	4	1	1	4	2	1	1	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:41012480G>A	ENST00000372699.3	+	5	736	c.485G>A	c.(484-486)aGt>aAt	p.S162N	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TATGAATGCAGTGAATGCGGG	0.308													15	46					0	0	0	0	A	41012480	G	A	41012480	3	1	408	1	0	0	0	0	1	0	0	0	18186	1029	36	4	499	4	ZNF684	1	41012480	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	477046	41012480	208238141	112	77930											
ZNF684	127396	broad.mit.edu	37	chr1	41012511	41012511	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccttcaaaaagaagttTcatttcattagacatgaaaa	19	11	5	6	0	3	3	3	1	0	2	3	3	3	3	1	0	1	1	1	0	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:41012511T>C	ENST00000372699.3	+	5	767	c.516T>C	c.(514-516)ttT>ttC	p.F172F	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AAAAGAAGTTTCATTTCATTA	0.348													18	50					0	0	0	0	C	41012511	T	C	41012511	2	2	408	1	0	0	0	0	0	0	0	1	18186	1780	62	5		5	ZNF684	1	41012511	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	31	41012511	208238110	113	77931											
HIVEP3	59269	broad.mit.edu	37	chr1	41976694	41976694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgacccaggctgcggtggGccctggcagcagggtggggt	5	6	19	11	1	0	1	0	1	0	0	0	1	0	1	2	7	2	3	2	7	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:41976694G>A	ENST00000372584.1	-	8	7660	c.6646C>T	c.(6646-6648)Ccc>Tcc	p.P2216S	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P2217S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P2217S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P2216S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2217					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTGCGGTGGGCCCTGGCAGC	0.706													37	82					0	0	0	0	A	41976694	G	A	41976694	3	1	408	1	0	0	0	0	1	0	0	0	7238	1203	42	4	575	4	HIVEP3	1	41976694	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	964183	41976694	207273927	114	77932											
SLC6A9	6536	broad.mit.edu	37	chr1	44467254	44467254	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatgacgaagccagcAtagacgctggtggcacagtt	13	6	14	8	2	0	4	0	1	0	3	0	6	0	4	1	2	2	4	1	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:44467254A>G	ENST00000372310.3	-	9	1173	c.1008T>C	c.(1006-1008)taT>taC	p.Y336Y	SLC6A9_ENST00000360584.2_Silent_p.Y409Y|SLC6A9_ENST00000372306.3_Silent_p.Y336Y|SLC6A9_ENST00000372307.3_Silent_p.Y271Y|SLC6A9_ENST00000537678.1_Silent_p.Y271Y|SLC6A9_ENST00000475075.2_Silent_p.Y225Y|SLC6A9_ENST00000357730.2_Silent_p.Y355Y	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	409						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGAAGCCAGCATAGACGCTGG	0.587													6	290					0	0	0	0	G	44467254	A	G	44467254	2	3	408	1	0	0	0	0	0	0	0	1	14779	224	8	5		5	SLC6A9	1	44467254	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2490560	44467254	204783367	115	77933											
PTCH2	8643	broad.mit.edu	37	chr1	45288255	45288257	+	In_Frame_Del	DEL	GGA	GGA	-																															ctggcaaagctctggggcagGgaggaggatgccccccacct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:45288255_45288257delGGA	ENST00000372192.3	-	22	3572_3574	c.3442_3444delTCC	c.(3442-3444)del	p.S1148del	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1148					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCTGGGGCAGGGAGGAGGATGCC	0.626									Basal Cell Nevus syndrome				38	130	---	---	---	---					-	45288257	GGA	-	45288255	7	5	408	1	0	1	0	1	0	0	0	0	12810	1219	43	0	191	0	PTCH2	1	45288255	In_Frame_Del	DEL	GGA	TCGA-F7-A624-01A-22D-A30E-08	821001	45288255	203962366	116	77934											
PTCH2	8643	broad.mit.edu	37	chr1	45295429	45295429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggtgctctgcagggcctCtgccctggtgggggtgtggg	3	9	20	9	0	2	0	0	0	2	0	2	1	2	0	2	6	3	2	2	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:45295429C>G	ENST00000447098.2	-	8	951	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	PTCH2_ENST00000372192.3_Missense_Mutation_p.E314Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	314					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGCAGGGCCTCTGCCCTGGTG	0.592									Basal Cell Nevus syndrome				16	47					0	0	0	0	G	45295429	C	G	45295429	3	3	408	1	0	0	0	0	1	0	0	0	12810	922	32	2	2751	2	PTCH2	1	45295429	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	7174	45295429	203955192	117	77935											
ZSWIM5	57643	broad.mit.edu	37	chr1	45501439	45501439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaaatacttggcaaaggTatgcatgggaacactctctc	14	9	9	9	0	1	0	0	0	1	0	3	2	1	1	0	3	4	3	0	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:45501439T>C	ENST00000359600.5	-	10	2417	c.2212A>G	c.(2212-2214)Acc>Gcc	p.T738A		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	738							zinc ion binding			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)					TTGGCAAAGGTATGCATGGGA	0.498													14	43					0	0	0	0	C	45501439	T	C	45501439	3	2	408	1	0	0	0	0	1	0	0	0	18335	1638	57	5	1365	5	ZSWIM5	1	45501439	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	206010	45501439	203749182	118	77936											
MAST2	23139	broad.mit.edu	37	chr1	46500250	46500250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagctcccccagctccagCgtgcccagttccccagccgg	6	5	10	20	2	0	0	0	0	0	0	3	0	3	0	7	1	6	4	7	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:46500250C>T	ENST00000361297.2	+	29	4192	c.3909C>T	c.(3907-3909)agC>agT	p.S1303S	MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1303					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGCTCCAGCGTGCCCAGTT	0.597													32	87					0	0	0	0	T	46500250	C	T	46500250	2	4	408	1	0	0	0	0	0	0	0	1	9394	767	27	1		1	MAST2	1	46500250	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	998811	46500250	202750371	119	77937											
POMGNT1	55624	broad.mit.edu	37	chr1	46662488	46662488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggggaccactgcctctgCgccgtgggggctccaggcgg	3	5	18	15	4	1	0	0	0	1	0	2	1	2	1	5	6	2	1	5	6	0	0	rs139701867	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:46662488C>T	ENST00000396420.3	-	4	905	c.269G>A	c.(268-270)cGc>cAc	p.R90H	POMGNT1_ENST00000371992.1_Missense_Mutation_p.R90H|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R68H|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R90H|POMGNT1_ENST00000371984.3_Missense_Mutation_p.R90H			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	90					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACTGCCTCTGCGCCGTGGGGG	0.622													38	125					0	0	0	0	T	46662488	C	T	46662488	3	4	408	1	0	0	0	0	1	0	0	0	12315	768	27	1	1789	1	POMGNT1	1	46662488	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	162238	46662488	202588133	120	77938											
RAD54L	8438	broad.mit.edu	37	chr1	46726410	46726410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attctctagggagtgaaattCctgtgggagtgtgtcaccag	9	12	13	7	0	2	1	1	1	1	0	4	3	3	3	2	2	0	0	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:46726410C>T	ENST00000371975.4	+	7	1163	c.489C>T	c.(487-489)ttC>ttT	p.F163F	RAD54L_ENST00000442598.1_Silent_p.F163F	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	163					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GAGTGAAATTCCTGTGGGAGT	0.562								Direct reversal of damage;Homologous recombination					5	97					0	0	0	0	T	46726410	C	T	46726410	2	4	408	1	0	0	0	0	0	0	0	1	13075	854	30	2		2	RAD54L	1	46726410	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	63922	46726410	202524211	121	77939											
SLC5A9	200010	broad.mit.edu	37	chr1	48694628	48694628	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtggcttcgagtggaacgTaaggaagctggcctggtttc	8	10	16	7	2	0	0	0	0	0	0	2	3	0	2	1	6	2	4	1	6	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:48694628T>C	ENST00000236495.5	+	3	389		c.e3+2		SLC5A9_ENST00000533824.1_Splice_Site|SLC5A9_ENST00000438567.2_Splice_Site|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Splice_Site	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9							integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAGTGGAACGTAAGGAAGCTG	0.582													26	76					0	0	0	0	C	48694628	T	C	48694628	5	2	408	1	0	0	0	0	0	0	1	0	14760	1652	57	5	351	5	SLC5A9	1	48694628	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1968218	48694628	200555993	122	77940											
AGBL4	84871	broad.mit.edu	37	chr1	49056597	49056597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagatgttgccatacaTgaagccattcatcatggtgg	12	11	9	9	0	3	2	3	1	0	1	3	2	3	2	2	2	3	1	2	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:49056597T>C	ENST00000371839.1	-	10	1128	c.1012A>G	c.(1012-1014)Atg>Gtg	p.M338V	AGBL4_ENST00000334103.7_Missense_Mutation_p.M71V	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	338					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TTGCCATACATGAAGCCATTC	0.463													3	17					0	0	0	0	C	49056597	T	C	49056597	3	2	408	1	0	0	0	0	1	0	0	0	377	1464	51	5	519	5	AGBL4	1	49056597	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	361969	49056597	200194024	123	77941											
CDKN2C	1031	broad.mit.edu	37	chr1	51439640	51439640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcccgatttgaaagaccgaActggtttcgctgtcattcat	10	13	8	10	3	2	2	2	1	0	1	4	4	3	2	2	1	1	2	2	1	2	3	rs139629762		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:51439640A>G	ENST00000262662.1	+	4	2239	c.205A>G	c.(205-207)Act>Gct	p.T69A	CDKN2C_ENST00000396148.1_Missense_Mutation_p.T69A|CDKN2C_ENST00000371761.3_Missense_Mutation_p.T69A			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	69					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GAAAGACCGAACTGGTTTCGC	0.443			D		"glioma, MM"								24	52					0	0	0	0	G	51439640	A	G	51439640	3	3	408	1	0	0	0	0	1	0	0	0	3194	43	2	5	211	5	CDKN2C	1	51439640	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2383043	51439640	197810981	124	77942											
EPS15	2060	broad.mit.edu	37	chr1	51938592	51938592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcagcatcagaagccAacacccttccagtattgcct	13	7	7	14	0	1	1	1	0	0	1	2	1	2	1	4	0	6	4	4	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:51938592A>G	ENST00000371733.3	-	3	200	c.104T>C	c.(103-105)tTg>tCg	p.L35S	EPS15_ENST00000371730.2_Missense_Mutation_p.L35S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	35	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATCAGAAGCCAACACCCTTCC	0.373			T	MLL	ALL								49	125					0	0	0	0	G	51938592	A	G	51938592	3	3	408	1	0	0	0	0	1	0	0	0	5230	131	5	5	2776	5	EPS15	1	51938592	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	498952	51938592	197312029	125	77943											
NRD1	4898	broad.mit.edu	37	chr1	52280401	52280401	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaccctcatcagtcaatgtAatagaaatgctgaacactga	16	10	6	9	0	3	3	3	2	0	1	3	3	3	3	1	0	3	2	1	0	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:52280401A>G	ENST00000354831.7	-	14	1917	c.1728T>C	c.(1726-1728)atT>atC	p.I576I	NRD1_ENST00000539524.1_Silent_p.I444I|NRD1_ENST00000544028.1_Silent_p.I376I|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.I508I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	507					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CAGTCAATGTAATAGAAATGC	0.348													7	29					0	0	0	0	G	52280401	A	G	52280401	2	3	408	1	0	0	0	0	0	0	0	1	10716	358	13	5		5	NRD1	1	52280401	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	341809	52280401	196970220	126	77944											
LRP8	7804	broad.mit.edu	37	chr1	53722996	53722996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactaactgagcttgggaCtgcagctgtcaggcttggtg	8	10	14	9	0	1	1	1	1	0	0	1	3	1	2	0	3	4	4	0	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:53722996C>G	ENST00000306052.6	-	15	2451	c.2350G>C	c.(2350-2352)Gtc>Ctc	p.V784L	LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.V784L|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Missense_Mutation_p.V614L|LRP8_ENST00000465675.1_Missense_Mutation_p.V337L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	784	Clustered O-linked oligosaccharides.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GAGCTTGGGACTGCAGCTGTC	0.592													24	49					0	0	0	0	G	53722996	C	G	53722996	3	3	408	1	0	0	0	0	1	0	0	0	9027	565	20	4	561	4	LRP8	1	53722996	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1442595	53722996	195527625	127	77945											
TTC4	7268	broad.mit.edu	37	chr1	55203289	55203289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggacagggcagaactatAccgggtgcctgccaagagca	12	5	14	10	1	0	3	0	1	0	2	0	4	0	4	3	3	5	2	3	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:55203289A>G	ENST00000371281.3	+	9	1100	c.1013A>G	c.(1012-1014)tAc>tGc	p.Y338C	MROH7_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	338							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GCAGAACTATACCGGGTGCCT	0.507													4	27					0	0	0	0	G	55203289	A	G	55203289	3	3	408	1	0	0	0	0	1	0	0	0	16806	391	14	5	1047	5	TTC4	1	55203289	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1480293	55203289	194047332	128	77946											
PRKAA2	5563	broad.mit.edu	37	chr1	57161834	57161834	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactatcaaagacataaggTgatttttctttttgtttctg	11	18	6	6	0	3	2	1	1	2	1	3	2	3	2	0	1	1	1	0	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:57161834T>C	ENST00000371244.4	+	6	854		c.e6+2			NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit						carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AGACATAAGGTGATTTTTCTT	0.383													5	150					0	0	0	0	C	57161834	T	C	57161834	5	2	408	1	0	0	0	0	0	0	1	0	12574	1710	59	5	812	5	PRKAA2	1	57161834	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1958545	57161834	192088787	129	77947											
DAB1	1600	broad.mit.edu	37	chr1	57480729	57480729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcgggagggcacgggcGgaggctgggccatctggaaa	7	6	20	8	3	1	0	0	0	1	0	1	3	1	3	1	7	1	3	1	7	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:57480729G>A	ENST00000371236.2	-	12	1534	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	DAB1_ENST00000371234.4_Missense_Mutation_p.P424L|DAB1_ENST00000439789.2_Missense_Mutation_p.P338L|DAB1_ENST00000414851.2_Missense_Mutation_p.P406L|DAB1_ENST00000371231.1_Missense_Mutation_p.P457L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.P422L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	457					cell differentiation|nervous system development			p.P424L(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						GGGCACGGGCGGAGGCTGGGC	0.582													24	65					0	0	0	0	A	57480729	G	A	57480729	3	1	408	1	0	0	0	0	1	0	0	0	4250	1116	39	1	408	1	DAB1	1	57480729	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	318895	57480729	191769892	130	77948											
FGGY	55277	broad.mit.edu	37	chr1	59812017	59812017	+	Frame_Shift_Del	DEL	G	G	-																															acagtgtcctccagtacgtcGggggggtgatgtctgtggaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:59812017delG	ENST00000371218.4	+	4	596	c.412delG	c.(412-414)ggfs	p.G139fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Del_p.G139fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	139					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CCAGTACGTCGGGGGGGTGAT	0.502													14	68	---	---	---	---					-	59812017	G	-	59812017	7	5	408	1	0	1	0	1	0	0	0	0	5916	1116	39	0	422	0	FGGY	1	59812017	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	2331288	59812017	189438604	131	77949											
C1orf87	127795	broad.mit.edu	37	chr1	60503711	60503711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctcaggtctgcagcTgctttattttgctgtggata	5	19	10	7	0	2	0	1	0	2	0	3	1	2	1	0	2	4	5	0	2	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:60503711T>C	ENST00000371201.3	-	6	923	c.816A>G	c.(814-816)gcA>gcG	p.A272A	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	272							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCTGCAGCTGCTTTATTTT	0.388													16	29					0	0	0	0	C	60503711	T	C	60503711	2	2	408	1	0	0	0	0	0	0	0	1	2084	1567	55	5		5	C1orf87	1	60503711	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	691694	60503711	188746910	132	77950											
INADL	10207	broad.mit.edu	37	chr1	62267407	62267407	+	Frame_Shift_Del	DEL	A	A	-																															aaagaaagaattgatactttAaaaaatgacaacatacaagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:62267407delA	ENST00000371158.2	+	12	1629	c.1515delA	c.(1513-1515)ttfs	p.L505fs	INADL_ENST00000316485.6_Frame_Shift_Del_p.L505fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	505					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTGATACTTTAAAAAATGACA	0.353													23	88	---	---	---	---					-	62267407	A	-	62267407	7	5	408	1	0	1	0	1	0	0	0	0	7784	359	13	0	1557	0	INADL	1	62267407	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	1763696	62267407	186983214	133	77951											
USP1	7398	broad.mit.edu	37	chr1	62916129	62916129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagaactagataaaggaaAttttgtggttgaccaaatgt	15	14	9	3	0	0	3	0	1	0	2	0	4	0	4	1	2	1	1	1	2	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:62916129A>G	ENST00000339950.4	+	9	2650	c.1835A>G	c.(1834-1836)aAt>aGt	p.N612S	USP1_ENST00000371146.1_Missense_Mutation_p.N612S	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	612					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GATAAAGGAAATTTTGTGGTT	0.388													4	91					0	0	0	0	G	62916129	A	G	62916129	3	3	408	1	0	0	0	0	1	0	0	0	17136	101	4	5	1865	5	USP1	1	62916129	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	648722	62916129	186334492	134	77952											
DOCK7	85440	broad.mit.edu	37	chr1	62962079	62962079	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaatatagtctttagagaAcgtcttaagaattcttcatt	13	16	6	6	1	5	2	2	0	3	2	5	3	5	2	0	0	1	0	0	0	7	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:62962079A>G	ENST00000251157.5	-	38	4860	c.4827T>C	c.(4825-4827)cgT>cgC	p.R1609R	DOCK7_ENST00000340370.5_Silent_p.R1587R	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1618	DHR-2.				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						TCTTTAGAGAACGTCTTAAGA	0.373													13	51					0	0	0	0	G	62962079	A	G	62962079	2	3	408	1	0	0	0	0	0	0	0	1	4728	30	2	5		5	DOCK7	1	62962079	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	45950	62962079	186288542	135	77953											
DOCK7	85440	broad.mit.edu	37	chr1	62971474	62971474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgctctctttggattccGttacagaaacggtctgcaat	10	13	9	9	2	2	1	0	0	2	1	4	3	3	2	1	2	4	3	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:62971474G>A	ENST00000251157.5	-	36	4496	c.4463C>T	c.(4462-4464)aCg>aTg	p.T1488M	DOCK7_ENST00000340370.5_Missense_Mutation_p.T1466M	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1497					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						TTTGGATTCCGTTACAGAAAC	0.368													15	46					0	0	0	0	A	62971474	G	A	62971474	3	1	408	1	0	0	0	0	1	0	0	0	4728	1145	40	1	1992	1	DOCK7	1	62971474	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9395	62971474	186279147	136	77954											
ALG6	29929	broad.mit.edu	37	chr1	63836712	63836712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagtacgatggacagtgTctcttaattcttattcaggt	11	15	8	7	1	3	0	1	0	2	0	4	2	3	1	0	2	2	1	0	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:63836712T>C	ENST00000371108.4	+	2	369	c.64T>C	c.(64-66)Tct>Cct	p.S22P	ALG6_ENST00000263440.4_Missense_Mutation_p.S22P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	22					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATGGACAGTGTCTCTTAATTC	0.333													36	87					0	0	0	0	C	63836712	T	C	63836712	3	2	408	1	0	0	0	0	1	0	0	0	522	1667	58	5	66	5	ALG6	1	63836712	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	865238	63836712	185413909	137	77955											
ROR1	4919	broad.mit.edu	37	chr1	64643562	64643562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtcacttctttgtccAcaaggaccttgcagctcgca	8	12	8	13	1	3	0	1	0	2	0	5	1	4	1	2	1	2	3	2	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:64643562A>G	ENST00000371079.1	+	9	2213	c.1838A>G	c.(1837-1839)cAc>cGc	p.H613R	ROR1_ENST00000545203.1_Missense_Mutation_p.H64R	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	613	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTCTTTGTCCACAAGGACCTT	0.448													23	54					0	0	0	0	G	64643562	A	G	64643562	3	3	408	1	0	0	0	0	1	0	0	0	13611	159	6	5	1880	5	ROR1	1	64643562	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	806850	64643562	184607059	138	77956											
CACHD1	57685	broad.mit.edu	37	chr1	65138890	65138890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcgcacccgactctcAtcgaccccaaaggacatgca	10	6	10	15	3	1	0	1	0	1	0	3	3	1	1	3	3	1	2	3	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:65138890A>G	ENST00000371073.2	+	18	2560	c.2560A>G	c.(2560-2562)Atc>Gtc	p.I854V	CACHD1_ENST00000290039.5_Missense_Mutation_p.I803V|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	854					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCCGACTCTCATCGACCCCAA	0.493													12	226					0	0	0	0	G	65138890	A	G	65138890	3	3	408	1	0	0	0	0	1	0	0	0	2562	217	8	5	2477	5	CACHD1	1	65138890	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	495328	65138890	184111731	139	77957											
SGIP1	84251	broad.mit.edu	37	chr1	67205086	67205086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgatgtgagccttcaagCactgacctgcgcatagatta	10	10	11	10	2	1	3	1	2	0	1	1	4	1	3	2	1	3	2	2	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67205086C>T	ENST00000371037.4	+	22	2177	c.2100C>T	c.(2098-2100)agC>agT	p.S700S	SGIP1_ENST00000371035.3_Silent_p.S490S|SGIP1_ENST00000371036.3_Silent_p.S502S|SGIP1_ENST00000371039.1_Silent_p.S503S|SGIP1_ENST00000237247.6_Silent_p.S731S|SGIP1_ENST00000435165.2_Silent_p.S205S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	700					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCCTTCAAGCACTGACCTGC	0.502													10	37					0	0	0	0	T	67205086	C	T	67205086	2	4	408	1	0	0	0	0	0	0	0	1	14293	709	25	4		4	SGIP1	1	67205086	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2066196	67205086	182045535	140	77958											
MIER1	57708	broad.mit.edu	37	chr1	67452114	67452114	+	Frame_Shift_Del	DEL	T	T	-																															caaatgcttcttccagttcaTttttcagccatcagttcaag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67452114delT	ENST00000371018.3	+	16	1687	c.1371delT	c.(1369-1371)cafs	p.H457fs	MIER1_ENST00000371016.1_Frame_Shift_Del_p.H437fs|MIER1_ENST00000371014.1_Frame_Shift_Del_p.H473fs|MIER1_ENST00000355356.3_3'UTR|MIER1_ENST00000355977.6_Frame_Shift_Del_p.H357fs|MIER1_ENST00000357692.2_3'UTR|MIER1_ENST00000401042.3_Frame_Shift_Del_p.H420fs	NM_001077702.2|NM_001146111.1|NM_001146112.1|NM_020948.3	NP_001071170.2|NP_001139583.1|NP_001139584.1|NP_065999.2	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	0					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTCCAGTTCATTTTTCAGCCA	0.328													28	89	---	---	---	---					-	67452114	T	-	67452114	7	5	408	1	0	1	0	1	0	0	0	0	9649	1490	52	0	1862	0	MIER1	1	67452114	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	247028	67452114	181798507	141	77959											
SLC35D1	23169	broad.mit.edu	37	chr1	67507985	67507985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatgaacagtgcattgtaAtagagcagtccatattttcc	13	13	7	8	0	1	2	1	1	0	1	3	2	3	2	2	0	3	3	2	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67507985A>G	ENST00000235345.5	-	8	748	c.663T>C	c.(661-663)taT>taC	p.Y221Y	SLC35D1_ENST00000506472.2_Silent_p.Y142Y	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	221					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	GTGCATTGTAATAGAGCAGTC	0.413													6	186					0	0	0	0	G	67507985	A	G	67507985	2	3	408	1	0	0	0	0	0	0	0	1	14669	108	4	5		5	SLC35D1	1	67507985	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	55871	67507985	181742636	142	77960											
IL23R	149233	broad.mit.edu	37	chr1	67635261	67635261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcttctatgtactgcactGctgaatgtcccaaacatttt	10	15	6	10	0	1	1	0	1	1	0	2	1	2	1	1	0	5	4	1	0	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67635261G>A	ENST00000347310.5	+	3	478	c.307G>A	c.(307-309)Gct>Act	p.A103T	IL23R_ENST00000371002.1_Missense_Mutation_p.A103T|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	103					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GTACTGCACTGCTGAATGTCC	0.373													9	128					0	0	0	0	A	67635261	G	A	67635261	3	1	408	1	0	0	0	0	1	0	0	0	7729	1319	46	4	313	4	IL23R	1	67635261	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	127276	67635261	181615360	143	77961											
IL23R	149233	broad.mit.edu	37	chr1	67724679	67724679	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagtgaaactattccagaAcagaccctgcttcctgatga	12	9	7	13	0	0	5	0	3	0	2	2	5	2	5	4	0	3	1	4	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67724679A>G	ENST00000347310.5	+	11	1929	c.1758A>G	c.(1756-1758)gaA>gaG	p.E586E	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.E331E	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	586					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CTATTCCAGAACAGACCCTGC	0.398													21	110					0	0	0	0	G	67724679	A	G	67724679	2	3	408	1	0	0	0	0	0	0	0	1	7729	40	2	5		5	IL23R	1	67724679	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	89418	67724679	181525942	144	77962											
DIRAS3	9077	broad.mit.edu	37	chr1	68512579	68512579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttacctttgatcttgcaGatcagctcatagaaggcctt	9	15	8	9	0	3	3	2	1	1	2	3	3	3	3	2	1	3	3	2	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:68512579G>A	ENST00000370981.1	-	4	1038	c.402C>T	c.(400-402)atC>atT	p.I134I	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.I134I|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	134					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGATCTTGCAGATCAGCTCAT	0.547													45	192					0	0	0	0	A	68512579	G	A	68512579	2	1	408	1	0	0	0	0	0	0	0	1	4569	932	33	2		2	DIRAS3	1	68512579	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	787900	68512579	180738042	145	77963											
HHLA3	11147	broad.mit.edu	37	chr1	70820764	70820764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggatactcagtcaaccaAcatttactgagcatctactt	14	11	6	10	0	3	2	2	1	1	1	3	3	3	3	1	1	6	1	1	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:70820764A>G	ENST00000359875.5	+	1	270	c.130A>G	c.(130-132)Aca>Gca	p.T44A	HHLA3_ENST00000370940.5_Missense_Mutation_p.T44A|HHLA3_ENST00000361764.4_Missense_Mutation_p.T44A|HHLA3_ENST00000531950.1_Missense_Mutation_p.T44A|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000432224.1_Missense_Mutation_p.T44A	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	44							protein binding			large_intestine(3)|lung(1)	4						cagtcaaccaacatttactga	0.507													10	37					0	0	0	0	G	70820764	A	G	70820764	3	3	408	1	0	0	0	0	1	0	0	0	7146	43	2	5	132	5	HHLA3	1	70820764	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2308185	70820764	178429857	146	77964											
NEGR1	257194	broad.mit.edu	37	chr1	72163772	72163772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcatattccccagcctggtCccttgtaattccataaatgt	9	15	5	12	0	1	0	1	0	0	0	4	0	4	0	5	1	1	1	5	1	4	7	rs148707586		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:72163772C>T	ENST00000357731.4	-	4	825	c.586G>A	c.(586-588)Gac>Aac	p.D196N	NEGR1_ENST00000306821.3_Missense_Mutation_p.D68N|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Intron	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	196	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCAGCCTGGTCCCTTGTAATT	0.378													7	37					0	0	0	0	T	72163772	C	T	72163772	3	4	408	1	0	0	0	0	1	0	0	0	10387	855	30	2	494	2	NEGR1	1	72163772	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1343008	72163772	177086849	147	77965											
ASB17	127247	broad.mit.edu	37	chr1	76387916	76387916	+	Frame_Shift_Del	DEL	T	T	-																															ttaagacaatgttgatagggTttttttctctttctaagatt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:76387916delT	ENST00000284142.6	-	2	669	c.530delA	c.(529-531)acfs	p.N177fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	177					intracellular signal transduction			p.N177fs*21(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTTGATAGGGTTTTTTTCTCT	0.368													16	27	---	---	---	---					-	76387916	T	-	76387916	7	5	408	1	0	1	0	1	0	0	0	0	1025	1725	60	0	365	0	ASB17	1	76387916	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	4224144	76387916	172862705	148	77966											
PIGK	10026	broad.mit.edu	37	chr1	77685039	77685039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaggacaagagcaacaCagttgccaagacagtcgcag	15	3	12	11	2	0	2	0	0	0	2	1	4	0	3	2	1	3	3	2	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:77685039C>T	ENST00000370812.3	-	1	72	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	PIGK_ENST00000370813.5_Missense_Mutation_p.V17M|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Missense_Mutation_p.V17M|PIGK_ENST00000445065.1_Missense_Mutation_p.V17M	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	17					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AAGAGCAACACAGTTGCCAAG	0.622													11	46					0	0	0	0	T	77685039	C	T	77685039	3	4	408	1	0	0	0	0	1	0	0	0	11962	478	17	4	1182	4	PIGK	1	77685039	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1297123	77685039	171565582	149	77967											
ZZZ3	26009	broad.mit.edu	37	chr1	78098499	78098499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccttcctcactgacatTcacctttttaatttcccttt	6	18	3	14	0	2	1	2	1	0	0	4	1	4	1	4	1	0	0	4	1	1	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:78098499T>C	ENST00000370801.3	-	5	1016	c.541A>G	c.(541-543)Aat>Gat	p.N181D	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCACTGACATTCACCTTTTTA	0.398													19	195					0	0	0	0	C	78098499	T	C	78098499	3	2	408	1	0	0	0	0	1	0	0	0	18347	1783	62	5	2214	5	ZZZ3	1	78098499	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	413460	78098499	171152122	150	77968											
ZZZ3	26009	broad.mit.edu	37	chr1	78098605	78098605	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccactactgtactcctctgTtctactgactccttgtctga	6	16	5	14	0	3	2	0	2	3	0	6	2	6	2	3	0	3	2	3	0	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:78098605T>C	ENST00000370801.3	-	5	910	c.435A>G	c.(433-435)gaA>gaG	p.E145E	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TACTCCTCTGTTCTACTGACT	0.368													23	183					0	0	0	0	C	78098605	T	C	78098605	2	2	408	1	0	0	0	0	0	0	0	1	18347	1722	60	5		5	ZZZ3	1	78098605	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	106	78098605	171152016	151	77969											
IFI44L	10964	broad.mit.edu	37	chr1	79095512	79095513	+	Frame_Shift_Ins	INS	-	-	T																															gttgggtctggaaagtccagINSttttttcaattcagtcaagt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:79095512_79095513insT	ENST00000370751.4	+	4	814_815	c.635_636insT	c.(634-636)attfs	p.I212fs	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	212						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAAAGTCCAGTTTTTTCAATT	0.45													16	64	---	---	---	---					T	79095513	-	T	79095512	7	5	408	1	0	1	1	0	0	0	0	0	7571	1029	36	0	645	0	IFI44L	1	79095512	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	996907	79095512	170155109	152	77970											
LPHN2	23266	broad.mit.edu	37	chr1	82372869	82372869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccatttcagatggagAatacagactgctacctcccc	11	9	7	14	0	1	4	1	1	0	3	2	5	2	4	4	1	3	1	4	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:82372869A>G	ENST00000370728.1	+	6	886	c.241A>G	c.(241-243)Aat>Gat	p.N81D	LPHN2_ENST00000319517.6_Missense_Mutation_p.N81D|LPHN2_ENST00000370730.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370715.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370727.1_Missense_Mutation_p.N81D|LPHN2_ENST00000394879.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370721.1_Missense_Mutation_p.N81D|LPHN2_ENST00000359929.3_Missense_Mutation_p.N81D|LPHN2_ENST00000335786.5_Missense_Mutation_p.N81D|LPHN2_ENST00000370723.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370725.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370713.1_Missense_Mutation_p.N81D|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.N81D|LPHN2_ENST00000370717.2_Missense_Mutation_p.N81D			O95490	LPHN2_HUMAN	latrophilin 2	81	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAGATGGAGAATACAGACTG	0.423													4	147					0	0	0	0	G	82372869	A	G	82372869	3	3	408	1	0	0	0	0	1	0	0	0	8980	246	9	5	247	5	LPHN2	1	82372869	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3277357	82372869	166877752	153	77971											
CCBL2	56267	broad.mit.edu	37	chr1	89408720	89408720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacgcacaaacttctcaaActgtgatttagtctctgagt	14	12	6	9	1	2	2	1	2	2	0	4	2	2	2	0	0	3	1	0	0	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:89408720A>G	ENST00000260508.4	-	13	1607	c.1270T>C	c.(1270-1272)Ttt>Ctt	p.F424L	CCBL2_ENST00000370491.3_Missense_Mutation_p.F390L|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	424					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AACTTCTCAAACTGTGATTTA	0.303													60	214					0	0	0	0	G	89408720	A	G	89408720	3	3	408	1	0	0	0	0	1	0	0	0	2758	43	2	5	102	5	CCBL2	1	89408720	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7035851	89408720	159841901	154	77972											
RBMXL1	494115	broad.mit.edu	37	chr1	89448713	89448713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagtcacgatcacgaccaTatccatctctatcgccatag	13	10	5	13	3	3	0	2	0	1	0	6	2	4	0	3	0	0	0	3	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:89448713T>C	ENST00000399794.2	-	3	1512	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y266C|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	266							nucleotide binding|RNA binding										ATCACGACCATATCCATCTCT	0.448													22	241					0	0	0	0	C	89448713	T	C	89448713	3	2	408	1	0	0	0	0	1	0	0	0	13235	1406	49	5	379	5	RBMXL1	1	89448713	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	39993	89448713	159801908	155	77973											
GBP7	388646	broad.mit.edu	37	chr1	89616155	89616155	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacatggagtaagagtttTttgtcatttattggccggtc	9	16	10	6	1	2	1	2	0	0	1	3	2	2	2	1	3	1	2	1	3	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:89616155T>C	ENST00000294671.2	-	6	867	c.729A>G	c.(727-729)aaA>aaG	p.K243K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	243						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTAAGAGTTTTTTGTCATTTA	0.388													16	78					0	0	0	0	C	89616155	T	C	89616155	2	2	408	1	0	0	0	0	0	0	0	1	6328	1838	64	5		5	GBP7	1	89616155	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	167442	89616155	159634466	156	77974											
TGFBR3	7049	broad.mit.edu	37	chr1	92187562	92187562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagccacaggagccattgtgTatgaagttattggactatag	12	12	11	6	0	0	1	0	1	0	0	0	3	0	3	2	2	2	2	2	2	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92187562T>C	ENST00000212355.4	-	8	1490	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	TGFBR3_ENST00000370399.2_Missense_Mutation_p.Y342C|TGFBR3_ENST00000525962.1_Missense_Mutation_p.Y342C	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	342					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGCCATTGTGTATGAAGTTAT	0.373													13	43					0	0	0	0	C	92187562	T	C	92187562	3	2	408	1	0	0	0	0	1	0	0	0	15917	1638	57	5	1570	5	TGFBR3	1	92187562	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2571407	92187562	157063059	157	77975											
BRDT	676	broad.mit.edu	37	chr1	92430262	92430262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaataaatattatgcgaagGcttcagaatgtatagaagac	18	10	9	4	1	1	4	1	0	0	4	1	5	1	4	0	1	1	2	0	1	10	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92430262G>A	ENST00000370389.2	+	3	976	c.52G>A	c.(52-54)Gct>Act	p.A18T	BRDT_ENST00000402388.1_Missense_Mutation_p.A91T|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000362005.3_Missense_Mutation_p.A91T|BRDT_ENST00000399546.2_Missense_Mutation_p.A91T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTATGCGAAGGCTTCAGAATG	0.279													13	26					0	0	0	0	A	92430262	G	A	92430262	3	1	408	1	0	0	0	0	1	0	0	0	1516	1203	42	4	277	4	BRDT	1	92430262	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	242700	92430262	156820359	158	77976											
EPHX4	253152	broad.mit.edu	37	chr1	92518158	92518158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaagcttatatttatgTcttttctcagcctggagcat	8	18	7	8	0	3	1	1	1	3	0	4	2	3	2	1	1	3	2	1	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92518158T>C	ENST00000370383.4	+	6	898	c.800T>C	c.(799-801)gTc>gCc	p.V267A		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	267						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TATATTTATGTCTTTTCTCAG	0.328													11	23					0	0	0	0	C	92518158	T	C	92518158	3	2	408	1	0	0	0	0	1	0	0	0	5220	1667	58	5	822	5	EPHX4	1	92518158	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	87896	92518158	156732463	159	77977											
BTBD8	284697	broad.mit.edu	37	chr1	92568216	92568216	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgacagagatgatgatttCatttccaatggtgaggtatt	12	14	11	4	0	1	5	1	4	0	1	2	6	2	5	1	2	0	1	1	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92568216C>T	ENST00000370382.3	+	3	801	c.534C>T	c.(532-534)ttC>ttT	p.F178F	BTBD8_ENST00000540648.1_Silent_p.F178F|BTBD8_ENST00000342818.3_Silent_p.F178F			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	178						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATGATGATTTCATTTCCAATG	0.323													12	49					0	0	0	0	T	92568216	C	T	92568216	2	4	408	1	0	0	0	0	0	0	0	1	1556	825	29	2		2	BTBD8	1	92568216	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	50058	92568216	156682405	160	77978											
RPAP2	79871	broad.mit.edu	37	chr1	92846371	92846371	+	Frame_Shift_Del	DEL	A	A	-																															ctccttgaagaattacatctAaaaaatgaagaccttgaaag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92846371delA	ENST00000370343.3	+	12	1888	c.1779delA	c.(1777-1779)ctfs	p.L593fs		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	593						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AATTACATCTAAAAAATGAAG	0.363													27	89	---	---	---	---					-	92846371	A	-	92846371	7	5	408	1	0	1	0	1	0	0	0	0	13627	349	13	0	1825	0	RPAP2	1	92846371	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	278155	92846371	156404250	161	77979											
GFI1	2672	broad.mit.edu	37	chr1	92946223	92946223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcacagcagctccgActccaccttgacgccagcgc	7	5	12	17	4	0	1	0	1	0	0	2	2	2	1	4	1	4	3	4	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92946223A>G	ENST00000370332.1	-	4	1039	c.721T>C	c.(721-723)Tcg>Ccg	p.S241P	GFI1_ENST00000427103.1_Missense_Mutation_p.S241P|GFI1_ENST00000294702.5_Missense_Mutation_p.S241P	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	241					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		AGCAGCTCCGACTCCACCTTG	0.692													3	11					0	0	0	0	G	92946223	A	G	92946223	3	3	408	1	0	0	0	0	1	0	0	0	6390	275	10	5	563	5	GFI1	1	92946223	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	99852	92946223	156304398	162	77980											
CCDC18	343099	broad.mit.edu	37	chr1	93691984	93691984	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggaaaagtttgaaaaacAgttaaagaagaaatctgaag	22	8	9	2	0	1	4	0	2	1	2	1	5	1	5	0	1	1	2	0	1	10	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:93691984A>C	ENST00000343253.7	+	17	2769	c.2267A>C	c.(2266-2268)cAg>cCg	p.Q756P	CCDC18_ENST00000338949.4_Missense_Mutation_p.Q512P|CCDC18_ENST00000334652.5_Missense_Mutation_p.Q52P|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q875P|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.Q757P			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	756										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTGAAAAACAGTTAAAGAAG	0.289													12	34					0	0	0	0	C	93691984	A	C	93691984	3	2	408	1	0	0	0	0	1	0	0	0	2820	188	7	5	2690	5	CCDC18	1	93691984	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	745761	93691984	155558637	163	77981											
DNTTIP2	30836	broad.mit.edu	37	chr1	94342347	94342347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagtcacttgcttttatggGgctctttttgttgttattcc	5	20	8	8	0	2	0	1	0	1	0	3	0	3	0	1	2	1	4	1	2	3	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:94342347G>A	ENST00000436063.2	-	2	1201	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GCTTTTATGGGGCTCTTTTTG	0.393													4	220					0	0	0	0	A	94342347	G	A	94342347	3	1	408	1	0	0	0	0	1	0	0	0	4718	1232	43	4	1150	4	DNTTIP2	1	94342347	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	650363	94342347	154908274	164	77982											
ABCA4	24	broad.mit.edu	37	chr1	94496004	94496004	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaagccacccttccttcagGcagcggttgccaaagcctgg	8	7	12	14	1	1	0	1	0	0	0	2	1	2	1	5	4	4	2	5	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:94496004G>T	ENST00000370225.3	-	29	4418	c.4332C>A	c.(4330-4332)tgC>tgA	p.C1444*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1444					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTCCTTCAGGCAGCGGTTGC	0.567													5	85					0.00116845	0.00118101	1	0	T	94496004	G	T	94496004	4	4	408	1	0	0	0	0	0	1	0	0	34	1195	42	4	2577	4	ABCA4	1	94496004	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	153657	94496004	154754617	165	77983											
ARHGAP29	9411	broad.mit.edu	37	chr1	94674816	94674816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttctctacttacatatttCcaaaggtaaatgccaaagtt	14	14	5	8	0	1	0	0	0	1	0	3	0	2	0	2	1	3	3	2	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:94674816C>A	ENST00000260526.6	-	4	613	c.431G>T	c.(430-432)gGa>gTa	p.G144V	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.G144V	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	144					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.G144E(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTACATATTTCCAAAGGTAAA	0.353													3	14					0.115264	0.1157	1	0	A	94674816	C	A	94674816	3	1	408	1	0	0	0	0	1	0	0	0	880	855	30	2	3434	2	ARHGAP29	1	94674816	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	178812	94674816	154575805	166	77984											
SLC44A3	126969	broad.mit.edu	37	chr1	95322958	95322958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggcattcggtacatgtgGtcgtaccatttaattggcct	7	14	11	9	3	0	0	0	0	0	0	3	0	0	0	2	4	2	3	2	4	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:95322958G>C	ENST00000271227.6	+	10	1242	c.1140G>C	c.(1138-1140)tgG>tgC	p.W380C	SLC44A3_ENST00000532427.1_Missense_Mutation_p.W300C|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Missense_Mutation_p.W344C|SLC44A3_ENST00000467909.1_Missense_Mutation_p.W332C|SLC44A3_ENST00000529450.1_Missense_Mutation_p.W348C|SLC44A3_ENST00000527077.1_Missense_Mutation_p.W312C	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	380						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GGTACATGTGGTCGTACCATT	0.463													32	68					0	0	0	0	C	95322958	G	C	95322958	3	2	408	1	0	0	0	0	1	0	0	0	14725	1270	44	4	1178	4	SLC44A3	1	95322958	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	648142	95322958	153927663	167	77985											
PTBP2	58155	broad.mit.edu	37	chr1	97272452	97272452	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgtgcagcgtgtgaagaTtttatacaataagaaagaca	17	10	10	4	1	0	5	0	1	0	4	0	5	0	5	0	0	3	1	0	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:97272452T>A	ENST00000236228.6	+	11	1191	c.1109T>A	c.(1108-1110)aTt>aAt	p.I370N	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.I375N|PTBP2_ENST00000394184.3_Missense_Mutation_p.I386N|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.I375N|PTBP2_ENST00000426398.2_Missense_Mutation_p.I370N	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	370	RRM 3.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CGTGTGAAGATTTTATACAAT	0.343													16	59					0	0	0	0	A	97272452	T	A	97272452	3	1	408	1	0	0	0	0	1	0	0	0	12805	1493	52	5	1151	5	PTBP2	1	97272452	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1949494	97272452	151978169	168	77986											
LPPR4	9890	broad.mit.edu	37	chr1	99771297	99771297	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtatgtttcagcacagAgacgccctcaggtctctgac	10	9	11	11	1	3	3	2	1	1	2	4	5	3	3	1	1	1	3	1	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:99771297A>G	ENST00000370185.3	+	7	1520	c.1023A>G	c.(1021-1023)agA>agG	p.R341R	LPPR4_ENST00000457765.1_Silent_p.R283R|LPPR4_ENST00000370184.1_Silent_p.R183R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		341							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCAGCACAGAGACGCCCTCA	0.448													39	105					0	0	0	0	G	99771297	A	G	99771297	2	3	408	1	0	0	0	0	0	0	0	1	8991	301	11	5		5	LPPR4	1	99771297	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2498845	99771297	149479324	169	77987											
AGL	178	broad.mit.edu	37	chr1	100343222	100343222	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtttacctaaggagagaActtatttgctggggagacag	13	10	13	5	0	0	2	0	0	0	2	0	6	0	3	1	3	3	2	1	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:100343222A>G	ENST00000294724.4	+	12	1927	c.1449A>G	c.(1447-1449)gaA>gaG	p.E483E	AGL_ENST00000361915.3_Silent_p.E483E|AGL_ENST00000361302.3_Silent_p.E467E|AGL_ENST00000370165.3_Silent_p.E483E|AGL_ENST00000361522.4_Silent_p.E466E|AGL_ENST00000370161.2_Silent_p.E467E|AGL_ENST00000370163.3_Silent_p.E483E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	483					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAGGAGAGAACTTATTTGCT	0.363													15	48					0	0	0	0	G	100343222	A	G	100343222	2	3	408	1	0	0	0	0	0	0	0	1	384	40	2	5		5	AGL	1	100343222	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	571925	100343222	148907399	170	77988											
HIAT1	64645	broad.mit.edu	37	chr1	100527484	100527484	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatataacccaagagcatgaAagaagtatggcttatggact	16	9	10	6	0	0	3	0	1	0	2	0	5	0	4	1	2	2	3	1	2	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:100527484A>G	ENST00000370152.3	+	5	601	c.465A>G	c.(463-465)gaA>gaG	p.E155E	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	155					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AAGAGCATGAAAGAAGTATGG	0.358													12	66					0	0	0	0	G	100527484	A	G	100527484	2	3	408	1	0	0	0	0	0	0	0	1	7147	11	1	5		5	HIAT1	1	100527484	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	184262	100527484	148723137	171	77989											
HIAT1	64645	broad.mit.edu	37	chr1	100534140	100534140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttttttatacctcagaCaggtaaaatcctcttccact	10	16	4	11	0	2	1	1	0	1	1	4	1	4	1	3	1	1	2	3	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:100534140C>G	ENST00000370152.3	+	7	953	c.817C>G	c.(817-819)Cag>Gag	p.Q273E	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	273					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATACCTCAGACAGGTAAAATC	0.393													22	94					0	0	0	0	G	100534140	C	G	100534140	3	3	408	1	0	0	0	0	1	0	0	0	7147	479	17	4	843	4	HIAT1	1	100534140	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	6656	100534140	148716481	172	77990											
OLFM3	118427	broad.mit.edu	37	chr1	102270375	102270375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcccacttgaaaggaaGgttgtatgtccttgattcag	9	13	10	9	0	1	2	1	2	0	0	3	3	3	3	3	2	1	2	3	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:102270375G>T	ENST00000370103.4	-	6	1009	c.796C>A	c.(796-798)Ctt>Att	p.L266I	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.L286I	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	286	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGAAAGGAAGGTTGTATGTC	0.368													31	76					3.69857e-22	3.90823e-22	1	0	T	102270375	G	T	102270375	3	4	408	1	0	0	0	0	1	0	0	0	10925	1000	35	4	584	4	OLFM3	1	102270375	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1736235	102270375	146980246	173	77991											
STXBP3	6814	broad.mit.edu	37	chr1	109318958	109318958	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttttccatttctagtaaAcctctagataatgccagtaa	12	16	4	9	0	2	1	0	0	2	1	3	1	3	1	3	0	2	2	3	0	6	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109318958A>G	ENST00000370008.3	+	8	647	c.597A>G	c.(595-597)aaA>aaG	p.K199K	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	199	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTCTAGTAAACCTCTAGATA	0.279													4	21					0	0	0	0	G	109318958	A	G	109318958	2	3	408	1	0	0	0	0	0	0	0	1	15444	40	2	5		5	STXBP3	1	109318958	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7048583	109318958	139931663	174	77992											
AKNAD1	254268	broad.mit.edu	37	chr1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgatccttccgtggcccTttttctccacgttttgcttc	3	18	7	13	2	1	1	0	1	1	0	5	1	3	1	4	1	1	3	4	1	0	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413													5	231					0	0	0	0	C	109369904	T	C	109369904	3	2	408	1	0	0	0	0	1	0	0	0	464	1609	56	5	675	5	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	50946	109369904	139880717	175	77993											
CLCC1	23155	broad.mit.edu	37	chr1	109479734	109479734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatgctctcgtgcctctgCgtctggtacatcaaatgccc	6	11	11	13	2	4	0	1	0	3	0	5	1	4	1	2	2	5	2	2	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109479734C>T	ENST00000369971.2	-	10	1477	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	CLCC1_ENST00000369968.2_Missense_Mutation_p.A265T|CLCC1_ENST00000348264.2_Missense_Mutation_p.A265T|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.A329T|CLCC1_ENST00000415331.1_Missense_Mutation_p.A400T|CLCC1_ENST00000369969.2_Missense_Mutation_p.A329T|CLCC1_ENST00000356970.2_Missense_Mutation_p.A450T|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.A400T|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	450						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CGTGCCTCTGCGTCTGGTACA	0.483													25	69					0	0	0	0	T	109479734	C	T	109479734	3	4	408	1	0	0	0	0	1	0	0	0	3490	768	27	1	315	1	CLCC1	1	109479734	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	109830	109479734	139770887	176	77994											
CELSR2	1952	broad.mit.edu	37	chr1	109793467	109793467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaccaagagcacccacGtcttcagggtcacggcgcag	10	5	13	13	3	3	2	2	1	1	2	3	3	3	2	2	2	1	2	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109793467G>A	ENST00000271332.3	+	1	827	c.766G>A	c.(766-768)Gtc>Atc	p.V256I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	256	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGCACCCACGTCTTCAGGGT	0.582													33	67					0	0	0	0	A	109793467	G	A	109793467	3	1	408	1	0	0	0	0	1	0	0	0	3251	1145	40	1	768	1	CELSR2	1	109793467	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	313733	109793467	139457154	177	77995											
CELSR2	1952	broad.mit.edu	37	chr1	109801625	109801625	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggacctctgctactcGcggccctgtggcccccacgg	4	7	14	16	3	1	0	0	0	1	0	2	2	1	1	4	5	2	1	4	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109801625G>A	ENST00000271332.3	+	2	3943	c.3882G>A	c.(3880-3882)tcG>tcA	p.S1294S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1294	EGF-like 2; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCTGCTACTCGCGGCCCTGTG	0.711													9	25					0	0	0	0	A	109801625	G	A	109801625	2	1	408	1	0	0	0	0	0	0	0	1	3251	1074	38	1		1	CELSR2	1	109801625	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	8158	109801625	139448996	178	77996											
CELSR2	1952	broad.mit.edu	37	chr1	109804950	109804950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacagggcccatcagaGcagaaggtggctgtggtgac	9	6	14	12	0	1	3	1	1	0	2	2	3	2	3	2	4	1	2	2	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109804950G>A	ENST00000271332.3	+	6	4489	c.4428G>A	c.(4426-4428)gaG>gaA	p.E1476E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1476	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCCATCAGAGCAGAAGGTGG	0.607													17	38					0	0	0	0	A	109804950	G	A	109804950	2	1	408	1	0	0	0	0	0	0	0	1	3251	962	34	4		4	CELSR2	1	109804950	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3325	109804950	139445671	179	77997											
CELSR2	1952	broad.mit.edu	37	chr1	109814242	109814242	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccttcatcttcctctcCtatgtggtgcttagcaagga	6	13	9	13	0	3	0	1	0	2	0	5	1	4	1	4	3	2	2	4	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109814242C>A	ENST00000271332.3	+	28	7885	c.7824C>A	c.(7822-7824)tcC>tcA	p.S2608S	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2608					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCTTCCTCTCCTATGTGGTGC	0.612													5	155					0.184627	0.184914	1	0	A	109814242	C	A	109814242	2	1	408	1	0	0	0	0	0	0	0	1	3251	668	24	4		4	CELSR2	1	109814242	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	9292	109814242	139436379	180	77998											
MYBPHL	343263	broad.mit.edu	37	chr1	109839460	109839460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgtttcactgagtccGcactggttttcagcaaagac	8	11	12	10	1	2	2	2	1	0	1	3	2	3	2	1	3	1	5	1	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109839460G>A	ENST00000357155.1	-	5	724	c.675C>T	c.(673-675)tgC>tgT	p.C225C	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	225	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CACTGAGTCCGCACTGGTTTT	0.552													22	75					0	0	0	0	A	109839460	G	A	109839460	2	1	408	1	0	0	0	0	0	0	0	1	10085	1079	38	1		1	MYBPHL	1	109839460	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	25218	109839460	139411161	181	77999											
KCNA3	3738	broad.mit.edu	37	chr1	111217120	111217120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgttgatgaccacgcgCtccccgcagcagtcctgctc	7	8	11	15	3	0	3	0	2	0	1	3	4	2	3	4	0	2	5	4	0	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:111217120C>T	ENST00000369769.2	-	1	535	c.312G>A	c.(310-312)gaG>gaA	p.E104E		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	104						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGACCACGCGCTCCCCGCAGC	0.726													17	64					0	0	0	0	T	111217120	C	T	111217120	2	4	408	1	0	0	0	0	0	0	0	1	8057	796	28	4		4	KCNA3	1	111217120	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1377660	111217120	138033501	182	78000											
CEPT1	10390	broad.mit.edu	37	chr1	111702064	111702064	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaccagtctttggatgcTattgatgggaaacaggcaag	12	12	11	6	0	1	1	0	1	1	0	1	3	1	3	1	3	3	2	1	3	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:111702064T>C	ENST00000545121.1	+	3	610	c.402T>C	c.(400-402)gcT>gcC	p.A134A	CEPT1_ENST00000357172.4_Silent_p.A134A	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	134						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CTTTGGATGCTATTGATGGGA	0.398													23	112					0	0	0	0	C	111702064	T	C	111702064	2	2	408	1	0	0	0	0	0	0	0	1	3293	1509	53	5		5	CEPT1	1	111702064	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	484944	111702064	137548557	183	78001											
OVGP1	5016	broad.mit.edu	37	chr1	111965594	111965594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttggacgatgtgtgggAccccagaaacagcagcagac	12	7	13	9	1	0	2	0	0	0	2	0	5	0	4	2	2	3	3	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:111965594A>G	ENST00000369732.3	-	6	618	c.563T>C	c.(562-564)gTc>gCc	p.V188A	OVGP1_ENST00000540696.1_Missense_Mutation_p.V128A|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	188					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GATGTGTGGGACCCCAGAAAC	0.542													24	334					0	0	0	0	G	111965594	A	G	111965594	3	3	408	1	0	0	0	0	1	0	0	0	11396	275	10	5	1497	5	OVGP1	1	111965594	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	263530	111965594	137285027	184	78002											
LRIG2	9860	broad.mit.edu	37	chr1	113638610	113638610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatcagccctgatgcAtgggagttctgccaaagact	13	8	11	9	0	2	3	1	1	1	2	2	5	2	4	2	1	3	2	2	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:113638610A>G	ENST00000361127.4	+	7	1116	c.918A>G	c.(916-918)gcA>gcG	p.A306A		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	306						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GCCCTGATGCATGGGAGTTCT	0.448													10	46					0	0	0	0	G	113638610	A	G	113638610	2	3	408	1	0	0	0	0	0	0	0	1	9009	204	8	5		5	LRIG2	1	113638610	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1673016	113638610	135612011	185	78003											
LRIG2	9860	broad.mit.edu	37	chr1	113655205	113655205	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcacctcagatttccTggcagaaagatggtggtact	10	10	10	11	0	1	3	1	0	0	3	2	3	2	3	3	3	2	3	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:113655205T>C	ENST00000361127.4	+	14	2101	c.1903T>C	c.(1903-1905)Tgg>Cgg	p.W635R	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	635	Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCAGATTTCCTGGCAGAAAGA	0.498													38	125					0	0	0	0	C	113655205	T	C	113655205	3	2	408	1	0	0	0	0	1	0	0	0	9009	1580	55	5	1957	5	LRIG2	1	113655205	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	16595	113655205	135595416	186	78004											
MAGI3	260425	broad.mit.edu	37	chr1	114133184	114133184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacaaatagctccatggActttagaaattatatgatga	17	11	6	7	0	0	3	0	2	0	1	1	4	1	4	2	1	2	1	2	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:114133184A>G	ENST00000369615.1	+	5	904	c.842A>G	c.(841-843)gAc>gGc	p.D281G	MAGI3_ENST00000369617.4_Missense_Mutation_p.D281G|MAGI3_ENST00000307546.9_Missense_Mutation_p.D281G|MAGI3_ENST00000369611.4_Missense_Mutation_p.D281G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	281	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		AGCTCCATGGACTTTAGAAAT	0.408													28	57					0	0	0	0	G	114133184	A	G	114133184	3	3	408	1	0	0	0	0	1	0	0	0	9261	275	10	5	860	5	MAGI3	1	114133184	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	477979	114133184	135117437	187	78005											
AP4B1	10717	broad.mit.edu	37	chr1	114440480	114440480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcactatcttgaatgttCtcttcacagccgggcagggc	8	11	9	13	1	4	1	2	1	2	0	5	1	4	1	2	2	1	2	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:114440480C>G	ENST00000369569.1	-	7	1564	c.1284G>C	c.(1282-1284)gaG>gaC	p.E428D	AP4B1_ENST00000369567.1_Missense_Mutation_p.E260D|AP4B1_ENST00000256658.4_Missense_Mutation_p.E428D|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	428					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CTTGAATGTTCTCTTCACAGC	0.468													30	77					0	0	0	0	G	114440480	C	G	114440480	3	3	408	1	0	0	0	0	1	0	0	0	752	912	32	2	951	2	AP4B1	1	114440480	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	307296	114440480	134810141	188	78006											
HIPK1	204851	broad.mit.edu	37	chr1	114484037	114484037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggttctgctagtcacgtTtccaaagctgtgtgctcaac	7	15	9	10	1	3	0	2	0	1	0	4	0	4	0	1	1	4	5	1	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:114484037T>C	ENST00000369558.1	+	2	1264	c.1032T>C	c.(1030-1032)gtT>gtC	p.V344V	HIPK1_ENST00000369554.2_Silent_p.V344V|HIPK1_ENST00000369555.2_Silent_p.V344V|HIPK1_ENST00000369559.4_Silent_p.V344V|HIPK1_ENST00000369561.4_Silent_p.V344V|HIPK1_ENST00000426820.2_Silent_p.V344V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	344	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CTAGTCACGTTTCCAAAGCTG	0.453													54	161					0	0	0	0	C	114484037	T	C	114484037	2	2	408	1	0	0	0	0	0	0	0	1	7166	1828	64	5		5	HIPK1	1	114484037	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	43557	114484037	134766584	189	78007											
OLFML3	56944	broad.mit.edu	37	chr1	114523793	114523793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgggtgcccttcccctgggTaggcacagggcagctggtat	5	8	15	13	1	0	0	0	0	0	0	1	0	1	0	4	5	2	5	4	5	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:114523793T>C	ENST00000369551.1	+	4	851	c.563T>C	c.(562-564)gTa>gCa	p.V188A	OLFML3_ENST00000320334.4_Missense_Mutation_p.V208A|OLFML3_ENST00000393300.2_Missense_Mutation_p.V188A|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	208	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		TTCCCCTGGGTAGGCACAGGG	0.567													19	62					0	0	0	0	C	114523793	T	C	114523793	3	2	408	1	0	0	0	0	1	0	0	0	10930	1638	57	5	633	5	OLFML3	1	114523793	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	39756	114523793	134726828	190	78008											
SLC22A15	55356	broad.mit.edu	37	chr1	116574133	116574133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggagctgcagggagaCtggaagtttcctggatctct	10	9	13	9	0	1	1	0	0	1	1	3	5	2	4	1	4	3	3	1	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:116574133C>T	ENST00000369503.4	+	6	1005	c.875C>T	c.(874-876)aCt>aTt	p.T292I	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	292					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGCAGGGAGACTGGAAGTTTC	0.498													4	128					0	0	0	0	T	116574133	C	T	116574133	3	4	408	1	0	0	0	0	1	0	0	0	14534	565	20	4	897	4	SLC22A15	1	116574133	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2050340	116574133	132676488	191	78009											
SLC22A15	55356	broad.mit.edu	37	chr1	116579933	116579933	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctattgtttaggtttggtcgGaagcgaacattatcagcatt	10	15	10	6	2	1	0	1	0	0	0	2	2	1	1	0	3	3	3	0	3	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:116579933G>T	ENST00000369503.4	+	8	1225	c.1095G>T	c.(1093-1095)cgG>cgT	p.R365R	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	365					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGTTTGGTCGGAAGCGAACAT	0.343													40	138					4.16155e-14	4.34957e-14	1	0	T	116579933	G	T	116579933	2	4	408	1	0	0	0	0	0	0	0	1	14534	1161	41	2		2	SLC22A15	1	116579933	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5800	116579933	132670688	192	78010											
SLC22A15	55356	broad.mit.edu	37	chr1	116607106	116607106	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcccgagttggtgggattAttgctcccttcatcccctca	5	14	8	14	1	3	0	2	0	1	0	6	2	5	1	4	2	1	2	4	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:116607106A>T	ENST00000369503.4	+	10	1472	c.1342A>T	c.(1342-1344)Att>Ttt	p.I448F		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	448					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGGTGGGATTATTGCTCCCTT	0.398													12	29					0	0	0	0	T	116607106	A	T	116607106	3	4	408	1	0	0	0	0	1	0	0	0	14534	449	16	5	1380	5	SLC22A15	1	116607106	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	27173	116607106	132643515	193	78011											
IGSF3	3321	broad.mit.edu	37	chr1	117150895	117150895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcatctgaactccacCggctcgcccaccgtgtgcag	8	7	11	15	3	1	1	0	1	1	0	3	2	2	2	4	2	3	3	4	2	1	0	rs61730485		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:117150895C>T	ENST00000369486.3	-	5	1656	c.891G>A	c.(889-891)ccG>ccA	p.P297P	IGSF3_ENST00000369483.1_Silent_p.P297P|IGSF3_ENST00000318837.6_Silent_p.P297P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	297	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGAACTCCACCGGCTCGCCCA	0.542													7	26					0	0	0	0	T	117150895	C	T	117150895	2	4	408	1	0	0	0	0	0	0	0	1	7654	639	23	1		1	IGSF3	1	117150895	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	543789	117150895	132099726	194	78012											
WDR3	10885	broad.mit.edu	37	chr1	118497252	118497252	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttatggcagtatctcagTgagtaaaatgtctaacggtt	11	13	11	6	1	2	1	1	1	2	0	3	1	2	1	0	3	1	5	0	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:118497252T>C	ENST00000349139.4	+	23	2456		c.e23+2		SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGTATCTCAGTGAGTAAAATG	0.363													22	90					0	0	0	0	C	118497252	T	C	118497252	5	2	408	1	0	0	0	0	0	0	1	0	17381	1710	59	5	2497	5	WDR3	1	118497252	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1346357	118497252	130753369	195	78013											
WARS2	10352	broad.mit.edu	37	chr1	119575854	119575854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgaggtgaagtctgtcaCagccttgcggaatttctgca	8	11	11	11	2	3	1	1	1	2	0	4	3	4	2	2	2	3	1	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:119575854C>T	ENST00000235521.4	-	6	789	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.V161M	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	255					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AAGTCTGTCACAGCCTTGCGG	0.582													13	113					0	0	0	0	T	119575854	C	T	119575854	3	4	408	1	0	0	0	0	1	0	0	0	17346	478	17	4	323	4	WARS2	1	119575854	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1078602	119575854	129674767	196	78014											
HAO2	51179	broad.mit.edu	37	chr1	119925634	119925634	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccctatttgtatcgcAcccacagggttccactgcct	7	11	8	15	1	0	0	0	0	0	0	2	0	1	0	5	1	2	3	5	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:119925634A>T	ENST00000361035.4	+	4	550	c.267A>T	c.(265-267)gcA>gcT	p.A89A	HAO2_ENST00000325945.3_Silent_p.A76A	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	76	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TTTGTATCGCACCCACAGGGT	0.567													9	21					0	0	0	0	T	119925634	A	T	119925634	2	4	408	1	0	0	0	0	0	0	0	1	7002	146	6	5		5	HAO2	1	119925634	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	349780	119925634	129324987	197	78015											
ADAM30	11085	broad.mit.edu	37	chr1	120437837	120437837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtttaaaaaaagagatatAactgcaattgctaaacccag	19	10	6	6	0	0	1	0	0	0	1	0	2	0	1	1	0	4	3	1	0	9	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:120437837A>G	ENST00000369400.1	-	1	1281	c.1123T>C	c.(1123-1125)Tat>Cat	p.Y375H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	375	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAAGAGATATAACTGCAATTG	0.398													48	147					0	0	0	0	G	120437837	A	G	120437837	3	3	408	1	0	0	0	0	1	0	0	0	248	362	13	5	1253	5	ADAM30	1	120437837	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	512203	120437837	128812784	198	78016											
ANKRD35	148741	broad.mit.edu	37	chr1	145558913	145558913	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgcagcgaggcgccCgagttaatgttacagacaag	11	7	13	10	3	0	1	0	0	0	1	0	3	0	1	1	1	5	5	1	1	3	2	rs151076205		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:145558913C>T	ENST00000355594.4	+	7	619	c.532C>T	c.(532-534)Cga>Tga	p.R178*	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	178										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGAGGCGCCCGAGTTAATGT	0.552													35	141					0	0	0	0	T	145558913	C	T	145558913	4	4	408	1	0	0	0	0	0	1	0	0	663	644	23	1	558	1	ANKRD35	1	145558913	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	25121076	145558913	103691708	199	78017											
CHD1L	9557	broad.mit.edu	37	chr1	146765320	146765320	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtggctcagcatcgtgAtcgttccaatgtcctgtctg	6	14	11	10	2	2	1	1	1	1	0	6	2	4	1	2	1	1	3	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:146765320A>C	ENST00000369258.4	+	21	2440	c.2420A>C	c.(2419-2421)gAt>gCt	p.D807A	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.D713A|CHD1L_ENST00000369259.3_Missense_Mutation_p.D603A|CHD1L_ENST00000361293.5_Missense_Mutation_p.D526A	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	807	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAGCATCGTGATCGTTCCAAT	0.473													31	149					0	0	0	0	C	146765320	A	C	146765320	3	2	408	1	0	0	0	0	1	0	0	0	3353	333	12	5	2502	5	CHD1L	1	146765320	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1206407	146765320	102485301	200	78018											
BCL9	607	broad.mit.edu	37	chr1	147096415	147096415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagctccatccatgccaggCcacaaccccatgagaccacc	12	4	6	19	0	0	1	0	1	0	1	2	2	2	1	8	1	3	1	8	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:147096415C>T	ENST00000234739.3	+	10	4676	c.3936C>T	c.(3934-3936)ggC>ggT	p.G1312G		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1312	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCATGCCAGGCCACAACCCCA	0.577			T	"IGH@, IGL@"	B-ALL								23	70					0	0	0	0	T	147096415	C	T	147096415	2	4	408	1	0	0	0	0	0	0	0	1	1385	726	26	4		4	BCL9	1	147096415	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	331095	147096415	102154206	201	78019											
GJA5	2702	broad.mit.edu	37	chr1	147230337	147230337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgtcgcttgtcactatgaTagccatggggaaggcggtga	9	9	15	8	3	1	2	1	2	0	0	2	4	1	3	1	4	1	1	1	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:147230337T>C	ENST00000271348.2	-	2	1171	c.1010A>G	c.(1009-1011)tAt>tGt	p.Y337C	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.Y337C	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	337					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GTCACTATGATAGCCATGGGG	0.557													4	109					0	0	0	0	C	147230337	T	C	147230337	3	2	408	1	0	0	0	0	1	0	0	0	6455	1406	49	5	70	5	GJA5	1	147230337	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	133922	147230337	102020284	202	78020											
GJA8	2703	broad.mit.edu	37	chr1	147380141	147380141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaatgagcactccaccgTcatcggcagagtctggctca	9	8	12	12	2	3	3	2	2	1	1	5	3	4	3	2	3	1	3	2	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:147380141T>C	ENST00000240986.4	+	2	112	c.59T>C	c.(58-60)gTc>gCc	p.V20A	GJA8_ENST00000369235.1_Missense_Mutation_p.V20A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	20					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACTCCACCGTCATCGGCAGA	0.562													5	157					0	0	0	0	C	147380141	T	C	147380141	3	2	408	1	0	0	0	0	1	0	0	0	6456	1667	58	5	61	5	GJA8	1	147380141	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	149804	147380141	101870480	203	78021											
OTUD7B	56957	broad.mit.edu	37	chr1	149949445	149949445	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatccatgtccagggtcaTgtgatcctcaagtactttca	10	12	8	11	0	3	1	3	1	0	0	6	1	6	1	3	1	2	2	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:149949445T>C	ENST00000369135.3	-	2	295	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	1					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCCAGGGTCATGTGATCCTCA	0.468													25	57					0	0	0	0	C	149949445	T	C	149949445	1	2	408	1	0	0	0	0	0	0	0	0	11390	1464	51	5		5	OTUD7B	1	149949445	Translation_Start_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2569304	149949445	99301176	204	78022											
ANP32E	81611	broad.mit.edu	37	chr1	150201458	150201458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattatcctcctgatcaaatCcatctaagtatgtgatttgc	11	15	5	10	0	2	2	1	2	1	0	5	2	5	2	3	0	1	1	3	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:150201458C>T	ENST00000314136.8	-	4	809	c.440G>A	c.(439-441)gGa>gAa	p.G147E	ANP32E_ENST00000436748.2_Missense_Mutation_p.G106E|ANP32E_ENST00000533654.1_Intron|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.G99E|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369115.2_Intron	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	147	LRRCT.					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGATCAAATCCATCTAAGTA	0.378													24	78					0	0	0	0	T	150201458	C	T	150201458	3	4	408	1	0	0	0	0	1	0	0	0	708	855	30	2	382	2	ANP32E	1	150201458	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	252013	150201458	99049163	205	78023											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529726	150529726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccccagatgcccgccccGccccatcccaggacacccct	7	4	6	24	2	0	1	0	0	0	1	2	2	2	2	10	1	1	0	10	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:150529726G>A	ENST00000271643.4	+	12	2198	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	ADAMTSL4_ENST00000369038.2_Silent_p.P654P|ADAMTSL4_ENST00000369039.5_Silent_p.P677P|ADAMTSL4_ENST00000369041.5_Silent_p.P654P|RP11-54A4.2_ENST00000442435.2_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	654	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCCCGCCCCGCCCCATCCCA	0.672													3	23					0	0	0	0	A	150529726	G	A	150529726	2	1	408	1	0	0	0	0	0	0	0	1	277	1074	38	1		1	ADAMTSL4	1	150529726	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	328268	150529726	98720895	206	78024											
ARNT	405	broad.mit.edu	37	chr1	150784504	150784504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccccaatagttctattctGaaaaggggggaaacatagtt	14	10	9	8	0	2	1	0	1	2	0	2	2	2	2	2	3	1	2	2	3	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:150784504G>A	ENST00000358595.5	-	22	2563	c.2363C>T	c.(2362-2364)tCa>tTa	p.S788L	ARNT_ENST00000515192.1_Missense_Mutation_p.S774L|ARNT_ENST00000354396.2_Missense_Mutation_p.S786L|ARNT_ENST00000505755.1_Missense_Mutation_p.S773L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	788					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTCTATTCTGAAAAGGGGGG	0.383			T	ETV6	AML								23	42					0	0	0	0	A	150784504	G	A	150784504	3	1	408	1	0	0	0	0	1	0	0	0	969	1294	45	2	10	2	ARNT	1	150784504	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	254778	150784504	98466117	207	78025											
SETDB1	9869	broad.mit.edu	37	chr1	150936071	150936071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaaatcaacccatgggAttgcaattaaatcaaccaac	16	10	4	11	0	3	0	2	0	1	0	3	1	3	1	2	1	4	1	2	1	8	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:150936071A>G	ENST00000271640.5	+	20	3713	c.3523A>G	c.(3523-3525)Att>Gtt	p.I1175V	SETDB1_ENST00000368969.4_Missense_Mutation_p.I1175V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1175	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCCATGGGATTGCAATTAA	0.507													71	287					0	0	0	0	G	150936071	A	G	150936071	3	3	408	1	0	0	0	0	1	0	0	0	14225	333	12	5	3597	5	SETDB1	1	150936071	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	151567	150936071	98314550	208	78026											
C1orf56	54964	broad.mit.edu	37	chr1	151021320	151021320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcagtgttcacagagAtgcaaccagtaagtgtttgg	10	13	10	8	0	3	1	2	0	1	1	4	2	3	1	1	1	2	4	1	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:151021320A>T	ENST00000368926.5	+	1	1105	c.997A>T	c.(997-999)Atg>Ttg	p.M333L	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	333						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|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)			GTTCACAGAGATGCAACCAGT	0.522											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	108					0	0	0	0	T	151021320	A	T	151021320	3	4	408	1	0	0	0	0	1	0	0	0	2068	333	12	5	999	5	C1orf56	1	151021320	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	85249	151021320	98229301	209	78027											
RORC	6097	broad.mit.edu	37	chr1	151787617	151787617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatgaggccccattgaGccctgccttggccaagttgt	6	10	13	12	0	0	2	0	2	0	0	0	2	0	2	5	3	2	2	5	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:151787617G>T	ENST00000356728.6	-	4	674	c.520C>A	c.(520-522)Ctc>Atc	p.L174I	RORC_ENST00000392697.3_Missense_Mutation_p.L249I|RORC_ENST00000318247.6_Missense_Mutation_p.L195I	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	195	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCCATTGAGCCCTGCCTTG	0.622													15	19					1.3612e-06	1.39554e-06	1	0	T	151787617	G	T	151787617	3	4	408	1	0	0	0	0	1	0	0	0	13615	971	34	4	1001	4	RORC	1	151787617	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	766297	151787617	97463004	210	78028											
TCHH	7062	broad.mit.edu	37	chr1	152082725	152082725	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caactcctcttcctcgcggtAttttttctcccgctcctggc	3	15	6	17	3	2	0	0	0	2	0	7	0	5	0	4	2	1	2	4	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152082725A>T	ENST00000368804.1	-	2	2967	c.2968T>A	c.(2968-2970)Tac>Aac	p.Y990N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	990	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcgcggtattttttctcc	0.562													9	216					0	0	0	0	T	152082725	A	T	152082725	3	4	408	1	0	0	0	0	1	0	0	0	15794	449	16	5	2867	5	TCHH	1	152082725	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	295108	152082725	97167896	211	78029											
TCHH	7062	broad.mit.edu	37	chr1	152083774	152083774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgctggcgcctctccTcctgctcctcgctcttcagc	1	13	9	18	2	3	0	1	0	2	0	7	0	5	0	4	1	4	5	4	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152083774T>C	ENST00000368804.1	-	2	1918	c.1919A>G	c.(1918-1920)gAg>gGg	p.E640G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	640	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCCTCTCCTCCTGCTCCTC	0.672													55	139					0	0	0	0	C	152083774	T	C	152083774	3	2	408	1	0	0	0	0	1	0	0	0	15794	1551	54	5	3916	5	TCHH	1	152083774	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1049	152083774	97166847	212	78030											
HRNR	388697	broad.mit.edu	37	chr1	152187860	152187860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggagccagacccatgtcggCcatagctgggagactgcctt	8	7	13	13	2	0	2	0	0	0	2	1	4	0	3	4	3	3	1	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152187860C>T	ENST00000368801.2	-	3	6320	c.6245G>A	c.(6244-6246)gGc>gAc	p.G2082D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2082					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGTCGGCCATAGCTGGG	0.622													71	207					0	0	0	0	T	152187860	C	T	152187860	3	4	408	1	0	0	0	0	1	0	0	0	7409	739	26	4	2311	4	HRNR	1	152187860	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	104086	152187860	97062761	213	78031											
HRNR	388697	broad.mit.edu	37	chr1	152188533	152188533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagacccatgtcggccacTgctggaagaccaaccggagc	10	4	12	15	2	0	2	0	0	0	2	1	4	0	4	5	3	3	1	5	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152188533T>C	ENST00000368801.2	-	3	5647	c.5572A>G	c.(5572-5574)Agt>Ggt	p.S1858G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1858					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGCCACTGCTGGAAGAC	0.592													71	1876					0	0	0	0	C	152188533	T	C	152188533	3	2	408	1	0	0	0	0	1	0	0	0	7409	1580	55	5	2984	5	HRNR	1	152188533	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	673	152188533	97062088	214	78032											
FLG	2312	broad.mit.edu	37	chr1	152283110	152283110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgtggctctgctgatgggGcccagcttgtccgtgggctg	2	13	16	10	1	1	1	0	1	1	0	2	1	2	1	2	4	2	4	2	4	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152283110G>A	ENST00000368799.1	-	3	4287	c.4252C>T	c.(4252-4254)Ccc>Tcc	p.P1418S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1418	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGATGGGGCCCAGCTTGT	0.562									Ichthyosis				10	475					0	0	0	0	A	152283110	G	A	152283110	3	1	408	1	0	0	0	0	1	0	0	0	5967	1203	42	4	7937	4	FLG	1	152283110	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	94577	152283110	96967511	215	78033											
FLG	2312	broad.mit.edu	37	chr1	152283287	152283287	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgactgctggtggcgggAtccatgtctttctcctggac	4	13	13	11	1	2	1	0	1	2	0	4	3	3	3	2	4	2	2	2	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152283287A>T	ENST00000368799.1	-	3	4110	c.4075T>A	c.(4075-4077)Tcc>Acc	p.S1359T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1359	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGCGGGATCCATGTCTT	0.547									Ichthyosis				193	591					0	0	0	0	T	152283287	A	T	152283287	3	4	408	1	0	0	0	0	1	0	0	0	5967	333	12	5	8114	5	FLG	1	152283287	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	177	152283287	96967334	216	78034											
SPRR3	6707	broad.mit.edu	37	chr1	152975621	152975621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccaaggagccatgccActcaaaggttccacaacctg	14	5	7	15	0	1	0	1	0	0	0	2	1	2	1	5	2	4	1	5	2	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152975621A>G	ENST00000331860.3	+	3	275	c.125A>G	c.(124-126)cAc>cGc	p.H42R	SPRR3_ENST00000295367.4_Missense_Mutation_p.H42R|SPRR3_ENST00000542696.1_Missense_Mutation_p.H42R	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	42					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCATGCCACTCAAAGGTT	0.547													8	58					0	0	0	0	G	152975621	A	G	152975621	3	3	408	1	0	0	0	0	1	0	0	0	15193	159	6	5	127	5	SPRR3	1	152975621	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	692334	152975621	96275000	217	78035											
S100A7A	338324	broad.mit.edu	37	chr1	153390569	153390569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcaaagatgagcaacaCtcaagctgagaggtccataa	18	5	10	8	0	1	3	1	2	0	2	2	5	2	3	1	1	4	3	1	1	5	1	rs148917755	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:153390569C>A	ENST00000368729.4	+	2	68	c.11C>A	c.(10-12)aCt>aAt	p.T4N	S100A7A_ENST00000368728.2_Missense_Mutation_p.T4N|S100A7A_ENST00000329256.2_Missense_Mutation_p.T4N	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	4						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGAGCAACACTCAAGCTGAG	0.423													41	135					1.22674e-20	1.29326e-20	1	0	A	153390569	C	A	153390569	3	1	408	1	0	0	0	0	1	0	0	0	13869	565	20	4	13	4	S100A7A	1	153390569	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	414948	153390569	95860052	218	78036											
INTS3	65123	broad.mit.edu	37	chr1	153744404	153744404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcacatcaagtccctgctCatcaagaacaacagcctgcc	13	6	7	15	0	3	1	3	0	0	1	4	2	4	1	3	0	6	2	3	0	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:153744404C>T	ENST00000456435.1	+	26	3253	c.2067C>T	c.(2065-2067)ctC>ctT	p.L689L	INTS3_ENST00000512605.1_Silent_p.L689L|INTS3_ENST00000435409.2_Silent_p.L895L|INTS3_ENST00000318967.2_Silent_p.L895L|INTS3_ENST00000476843.1_3'UTR			Q68E01	INT3_HUMAN	integrator complex subunit 3	896					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTCCCTGCTCATCAAGAACA	0.612											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	37					0	0	0	0	T	153744404	C	T	153744404	2	4	408	1	0	0	0	0	0	0	0	1	7832	813	29	2		2	INTS3	1	153744404	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	353835	153744404	95506217	219	78037											
DENND4B	9909	broad.mit.edu	37	chr1	153909067	153909067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatctggcgcagcacatggTaggctgtgtgcagtgcctgc	6	9	14	12	1	1	0	0	0	1	0	1	0	1	0	2	3	4	5	2	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:153909067T>C	ENST00000361217.4	-	16	2808	c.2390A>G	c.(2389-2391)tAc>tGc	p.Y797C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	797										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCACATGGTAGGCTGTGTG	0.627													11	25					0	0	0	0	C	153909067	T	C	153909067	3	2	408	1	0	0	0	0	1	0	0	0	4471	1638	57	5	2152	5	DENND4B	1	153909067	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	164663	153909067	95341554	220	78038											
CREB3L4	148327	broad.mit.edu	37	chr1	153941609	153941609	+	Frame_Shift_Del	DEL	G	G	-																															ggggccctggagaggatgcaGggggaaactgggccaaatgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:153941609delG	ENST00000368607.3	+	3	644	c.378delG	c.(376-378)cafs	p.Q126fs	CREB3L4_ENST00000368601.1_Frame_Shift_Del_p.Q126fs|CREB3L4_ENST00000368603.1_Frame_Shift_Del_p.Q126fs|CREB3L4_ENST00000368600.3_Frame_Shift_Del_p.Q106fs|CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000271889.4_Frame_Shift_Del_p.Q126fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	126					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGGATGCAGGGGGAAACTG	0.587													44	176	---	---	---	---					-	153941609	G	-	153941609	7	5	408	1	0	1	0	1	0	0	0	0	3889	991	35	0	384	0	CREB3L4	1	153941609	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	32542	153941609	95309012	221	78039											
NUP210L	91181	broad.mit.edu	37	chr1	154072543	154072543	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcattcacacttacTgttaccagagtatggccaag	12	12	6	11	0	3	1	3	0	0	1	3	1	3	1	2	1	2	2	2	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154072543T>C	ENST00000368559.3	-	14	1967	c.1896A>G	c.(1894-1896)acA>acG	p.T632T	NUP210L_ENST00000271854.3_Silent_p.T632T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	632						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCACACTTACTGTTACCAGAG	0.398													63	159					0	0	0	0	C	154072543	T	C	154072543	2	2	408	1	0	0	0	0	0	0	0	1	10832	1567	55	5		5	NUP210L	1	154072543	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	130934	154072543	95178078	222	78040											
UBAP2L	9898	broad.mit.edu	37	chr1	154223759	154223759	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggctcagcagaaactgAaacagcagaagaaaaaagcc	19	2	10	10	1	1	4	1	1	0	3	1	4	1	4	2	1	6	3	2	1	6	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154223759A>T	ENST00000428931.1	+	13	1623	c.1456A>T	c.(1456-1458)Aaa>Taa	p.K486*	UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.K486*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.K497*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.K486*	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	486					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAGAAACTGAAACAGCAGAA	0.473													27	96					0	0	0	0	T	154223759	A	T	154223759	4	4	408	1	0	0	0	0	0	1	0	0	16934	247	9	5	1502	5	UBAP2L	1	154223759	Nonsense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	151216	154223759	95026862	223	78041											
ATP8B2	57198	broad.mit.edu	37	chr1	154315748	154315748	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggccatcctggacttcaAcaacatccgcaagcggatgt	10	8	10	13	2	1	0	1	0	0	0	3	2	3	2	3	3	3	2	3	3	3	1	rs148837394		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154315748A>G	ENST00000368489.3	+	16	1712	c.1712A>G	c.(1711-1713)aAc>aGc	p.N571S		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	557					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGACTTCAACAACATCCGC	0.577													13	44					0	0	0	0	G	154315748	A	G	154315748	3	3	408	1	0	0	0	0	1	0	0	0	1199	43	2	5	1904	5	ATP8B2	1	154315748	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	91989	154315748	94934873	224	78042											
TDRD10	126668	broad.mit.edu	37	chr1	154515221	154515221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctagctattatacagctcGctcctaaagctcctgttgac	9	14	6	12	1	1	1	0	1	1	0	4	1	3	1	2	0	4	5	2	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154515221G>A	ENST00000368482.4	+	8	1265	c.427G>A	c.(427-429)Gct>Act	p.A143T	TDRD10_ENST00000368480.3_Missense_Mutation_p.A143T|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	143							nucleotide binding|RNA binding	p.A143T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TATACAGCTCGCTCCTAAAGC	0.512													7	70					0	0	0	0	A	154515221	G	A	154515221	3	1	408	1	0	0	0	0	1	0	0	0	15825	1087	38	1	453	1	TDRD10	1	154515221	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	199473	154515221	94735400	225	78043											
PBXIP1	57326	broad.mit.edu	37	chr1	154924305	154924305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagctaattctttcccAtctgtcttggaggggctgtg	5	14	11	11	0	3	0	0	0	3	0	5	1	5	1	2	3	1	2	2	3	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154924305A>G	ENST00000368463.3	-	3	215	c.144T>C	c.(142-144)gaT>gaC	p.D48D	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Silent_p.D19D|PBXIP1_ENST00000368460.3_Silent_p.D48D	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	48					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATTCTTTCCCATCTGTCTTGG	0.562													82	210					0	0	0	0	G	154924305	A	G	154924305	2	3	408	1	0	0	0	0	0	0	0	1	11567	214	8	5		5	PBXIP1	1	154924305	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	409084	154924305	94326316	226	78044											
DCST1	149095	broad.mit.edu	37	chr1	155023290	155023290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcacgccccgcgaagaGctctcttcctccgcctttag	5	10	9	17	4	2	1	0	0	2	1	5	2	4	1	5	0	2	2	5	0	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155023290G>A	ENST00000295542.1	+	17	2163	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	DCST1_ENST00000423025.2_Silent_p.E664E	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	689						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCGCGAAGAGCTCTCTTCCT	0.642											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	0	0	A	155023290	G	A	155023290	2	1	408	1	0	0	0	0	0	0	0	1	4334	962	34	4		4	DCST1	1	155023290	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	98985	155023290	94227331	227	78045											
EFNA1	1942	broad.mit.edu	37	chr1	155106009	155106009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagcatgaagaccgctGcttgaggttgaaggtgactg	10	8	13	10	1	0	5	0	4	0	1	0	5	0	5	3	2	2	4	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155106009G>A	ENST00000368407.3	+	3	937	c.419G>A	c.(418-420)tGc>tAc	p.C140Y	EFNA1_ENST00000368406.2_Intron|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	140					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGACCGCTGCTTGAGGTTG	0.502													31	85					0	0	0	0	A	155106009	G	A	155106009	3	1	408	1	0	0	0	0	1	0	0	0	4986	1319	46	4	429	4	EFNA1	1	155106009	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	82719	155106009	94144612	228	78046											
THBS3	7059	broad.mit.edu	37	chr1	155172668	155172668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcagggcccacagcggtAgcctgggtactcgtacactt	7	7	15	12	2	0	0	0	0	0	0	1	0	0	0	2	5	4	4	2	5	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155172668A>G	ENST00000368378.3	-	8	912	c.892T>C	c.(892-894)Tac>Cac	p.Y298H	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.Y178H|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_Missense_Mutation_p.Y148H|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	298	EGF-like 1.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCACAGCGGTAGCCTGGGTAC	0.617													19	77					0	0	0	0	G	155172668	A	G	155172668	3	3	408	1	0	0	0	0	1	0	0	0	15949	420	15	5	2042	5	THBS3	1	155172668	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	66659	155172668	94077953	229	78047											
ASH1L	55870	broad.mit.edu	37	chr1	155313465	155313465	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttaatgtgagataacagtcGataggactgacggaccgggt	12	9	14	6	3	0	2	0	2	0	1	1	6	0	4	1	3	1	1	1	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155313465G>A	ENST00000368346.3	-	23	8704	c.8065C>T	c.(8065-8067)Cga>Tga	p.R2689*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.R2684*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2689	BAH.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GATAACAGTCGATAGGACTGA	0.473													18	55					0	0	0	0	A	155313465	G	A	155313465	4	1	408	1	0	0	0	0	0	1	0	0	1045	1066	37	1	868	1	ASH1L	1	155313465	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	140797	155313465	93937156	230	78048											
ASH1L	55870	broad.mit.edu	37	chr1	155448901	155448901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtaatcatgattcctgcGcttacatttgtgtttatgtt	8	18	9	6	1	1	1	1	1	0	0	2	2	2	1	1	1	2	4	1	1	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155448901G>A	ENST00000368346.3	-	3	4399	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1254					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATTCCTGCGCTTACATTTG	0.393													55	171					0	0	0	0	A	155448901	G	A	155448901	3	1	408	1	0	0	0	0	1	0	0	0	1045	1087	38	1	5238	1	ASH1L	1	155448901	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	135436	155448901	93801720	231	78049											
KIAA0907	22889	broad.mit.edu	37	chr1	155884009	155884009	+	Frame_Shift_Del	DEL	T	T	-																															cctgtggaaaactacttgcaTttttatgacctccatgttcc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155884009delT	ENST00000368321.3	-	14	1771	c.1748delA	c.(1747-1749)atfs	p.N583fs	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	583										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACTACTTGCATTTTTATGACC	0.448													27	99	---	---	---	---					-	155884009	T	-	155884009	7	5	408	1	0	1	0	1	0	0	0	0	8250	1493	52	0	100	0	KIAA0907	1	155884009	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	435108	155884009	93366612	232	78050											
UBQLN4	56893	broad.mit.edu	37	chr1	156021624	156021624	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatcctgctgagccttaaAcctccgggagatttcctctt	7	13	8	13	1	1	3	0	2	1	1	4	4	4	3	5	1	3	1	5	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156021624A>C	ENST00000368309.3	-	2	225	c.133T>G	c.(133-135)Ttt>Gtt	p.F45V	UBQLN4_ENST00000368307.1_Missense_Mutation_p.F45V|UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	45	Ubiquitin-like.					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGAGCCTTAAACCTCCGGGAG	0.547													19	43					0	0	0	0	C	156021624	A	C	156021624	3	2	408	1	0	0	0	0	1	0	0	0	16995	43	2	5	1712	5	UBQLN4	1	156021624	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	137615	156021624	93228997	233	78051											
RAB25	57111	broad.mit.edu	37	chr1	156039463	156039463	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtttcccttcctggcagaAaacaatggactgctcttcct	8	13	8	12	0	1	1	0	0	1	1	4	2	4	2	3	2	2	3	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156039463A>G	ENST00000361084.5	+	4	676	c.433_splice	c.e4-1	p.E145_splice	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	145					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCCTGGCAGAAAACAATGGAC	0.408													133	412					0	0	0	0	G	156039463	A	G	156039463	5	3	408	1	0	0	0	0	0	0	1	0	12994	28	1	5	449	5	RAB25	1	156039463	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	17839	156039463	93211158	234	78052											
SMG5	23381	broad.mit.edu	37	chr1	156235591	156235591	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggctctgaaggcttgtcTacatccccattgacgcaagg	8	10	10	13	1	2	2	0	2	2	0	3	2	3	2	3	3	1	3	3	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156235591T>C	ENST00000361813.5	-	12	1980	c.1836A>G	c.(1834-1836)gtA>gtG	p.V612V	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	612					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AAGGCTTGTCTACATCCCCAT	0.577													64	199					0	0	0	0	C	156235591	T	C	156235591	2	2	408	1	0	0	0	0	0	0	0	1	14884	1509	53	5		5	SMG5	1	156235591	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	196128	156235591	93015030	235	78053											
IQGAP3	128239	broad.mit.edu	37	chr1	156513971	156513971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagtagtgcagacgcctCaggtattgcctccgagctgc	8	9	13	11	2	1	1	1	0	0	1	2	3	2	2	3	2	4	4	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156513971C>T	ENST00000361170.2	-	21	2443	c.2433G>A	c.(2431-2433)ctG>ctA	p.L811L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	811	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGACGCCTCAGGTATTGCC	0.587													56	136					0	0	0	0	T	156513971	C	T	156513971	2	4	408	1	0	0	0	0	0	0	0	1	7869	813	29	2		2	IQGAP3	1	156513971	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	278380	156513971	92736650	236	78054											
BCAN	63827	broad.mit.edu	37	chr1	156618588	156618588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtgtcaagactctctTcctcttccccaaccagactg	7	11	7	16	0	3	2	1	0	2	2	6	2	5	2	5	1	1	0	5	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156618588T>C	ENST00000329117.4	+	6	1334	c.998T>C	c.(997-999)tTc>tCc	p.F333S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.F333S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	333	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGACTCTCTTCCTCTTCCCC	0.607													4	224					0	0	0	0	C	156618588	T	C	156618588	3	2	408	1	0	0	0	0	1	0	0	0	1349	1783	62	5	1016	5	BCAN	1	156618588	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	104617	156618588	92632033	237	78055											
PRCC	5546	broad.mit.edu	37	chr1	156761536	156761536	+	Frame_Shift_Del	DEL	C	C	-																															gcacaggacccggccctggtCcccccccaggaaattgcccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156761536delC	ENST00000271526.4	+	4	1403	c.1131delC	c.(1129-1131)gtfs	p.V377fs	PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGCCCTGGTCCCCCCCCAGG	0.527			T	TFE3	papillary renal								26	105	---	---	---	---					-	156761536	C	-	156761536	7	5	408	1	0	1	0	1	0	0	0	0	12527	842	30	0	1145	0	PRCC	1	156761536	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	142948	156761536	92489085	238	78056											
INSRR	3645	broad.mit.edu	37	chr1	156815812	156815812	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgccacagcaccaggtagTaggtgaggttcccattgcgc	8	8	13	12	1	0	1	0	1	0	0	1	1	1	1	3	3	3	5	3	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156815812T>C	ENST00000368195.3	-	9	2306	c.1910A>G	c.(1909-1911)tAc>tGc	p.Y637C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	637	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCAGGTAGTAGGTGAGGTT	0.677													15	45					0	0	0	0	C	156815812	T	C	156815812	3	2	408	1	0	0	0	0	1	0	0	0	7827	1638	57	5	2038	5	INSRR	1	156815812	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	54276	156815812	92434809	239	78057											
INSRR	3645	broad.mit.edu	37	chr1	156819090	156819090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagccttgttctgccgAcctcgcgtgcctgtcacctc	4	12	8	17	3	3	0	2	0	2	0	6	1	3	0	5	0	3	1	5	0	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156819090A>G	ENST00000368195.3	-	6	1788	c.1392T>C	c.(1390-1392)ggT>ggC	p.G464G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	464					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTTCTGCCGACCTCGCGTGC	0.642													15	104					0	0	0	0	G	156819090	A	G	156819090	2	3	408	1	0	0	0	0	0	0	0	1	7827	262	10	5		5	INSRR	1	156819090	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3278	156819090	92431531	240	78058											
FCRL5	83416	broad.mit.edu	37	chr1	157509085	157509085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcttcacagtgaagtGtcaccttggctccctcaaaa	9	11	9	12	0	4	1	3	1	1	0	5	1	5	1	2	2	0	2	2	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:157509085G>A	ENST00000361835.3	-	7	1350	c.1193C>T	c.(1192-1194)aCa>aTa	p.T398I	FCRL5_ENST00000356953.4_Missense_Mutation_p.T398I|FCRL5_ENST00000368191.3_Missense_Mutation_p.T313I|FCRL5_ENST00000368190.3_Missense_Mutation_p.T398I|FCRL5_ENST00000368189.3_Missense_Mutation_p.T398I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	398	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACAGTGAAGTGTCACCTTGGC	0.522													17	60					0	0	0	0	A	157509085	G	A	157509085	3	1	408	1	0	0	0	0	1	0	0	0	5843	1377	48	4	1784	4	FCRL5	1	157509085	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	689995	157509085	91741536	241	78059											
CD5L	922	broad.mit.edu	37	chr1	157804402	157804402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccggcacaccacctttgcGgcccggaggctccagcctgt	5	7	12	17	3	0	0	0	0	0	0	1	1	1	1	6	4	3	2	6	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:157804402G>A	ENST00000368174.4	-	4	609	c.513C>T	c.(511-513)gcC>gcT	p.A171A		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	171	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCACCTTTGCGGCCCGGAGGC	0.612													35	133					0	0	0	0	A	157804402	G	A	157804402	2	1	408	1	0	0	0	0	0	0	0	1	3056	1103	39	1		1	CD5L	1	157804402	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	295317	157804402	91446219	242	78060											
SPTA1	6708	broad.mit.edu	37	chr1	158637733	158637733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgtcagaggcatagtgAccaccctcaatcatctcttg	11	11	7	12	0	4	2	3	1	1	1	5	2	4	2	2	1	0	1	2	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:158637733A>G	ENST00000368148.3	-	15	2133	c.1953T>C	c.(1951-1953)ggT>ggC	p.G651G	SPTA1_ENST00000368147.3_Silent_p.G651G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	651					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGCATAGTGACCACCCTCAA	0.473													24	97					0	0	0	0	G	158637733	A	G	158637733	2	3	408	1	0	0	0	0	0	0	0	1	15206	262	10	5		5	SPTA1	1	158637733	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	833331	158637733	90612888	243	78061											
SPTA1	6708	broad.mit.edu	37	chr1	158637817	158637817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccttttcaaagacttgCtgcttttgaaccctgctctt	8	16	5	12	0	2	2	1	1	1	1	3	2	3	2	2	0	5	3	2	0	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:158637817C>T	ENST00000368148.3	-	15	2049	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	SPTA1_ENST00000368147.3_Silent_p.Q623Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	623					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGACTTGCTGCTTTTGAA	0.393													42	147					0	0	0	0	T	158637817	C	T	158637817	2	4	408	1	0	0	0	0	0	0	0	1	15206	796	28	4		4	SPTA1	1	158637817	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	84	158637817	90612804	244	78062											
OR6N2	81442	broad.mit.edu	37	chr1	158747317	158747317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgttaccacagatggtgaAcaggtatgccaatagcagca	14	8	10	9	0	0	2	0	1	0	1	0	2	0	2	2	2	5	4	2	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:158747317A>G	ENST00000339258.1	-	1	108	c.109T>C	c.(109-111)Ttc>Ctc	p.F37L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CAGATGGTGAACAGGTATGCC	0.483													40	117					0	0	0	0	G	158747317	A	G	158747317	3	3	408	1	0	0	0	0	1	0	0	0	11278	43	2	5	847	5	OR6N2	1	158747317	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	109500	158747317	90503304	245	78063											
CADM3	57863	broad.mit.edu	37	chr1	159162460	159162460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctggcagacgagggcgagTacacctgctcaatcttcact	9	8	10	14	2	3	1	2	0	1	1	3	3	3	1	2	2	2	3	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:159162460T>C	ENST00000368125.4	+	3	479	c.322T>C	c.(322-324)Tac>Cac	p.Y108H	CADM3_ENST00000368124.4_Missense_Mutation_p.Y142H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	108	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGAGGGCGAGTACACCTGCTC	0.557													37	104					0	0	0	0	C	159162460	T	C	159162460	3	2	408	1	0	0	0	0	1	0	0	0	2593	1638	57	5	438	5	CADM3	1	159162460	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	415143	159162460	90088161	246	78064											
CADM3	57863	broad.mit.edu	37	chr1	159166185	159166186	+	Frame_Shift_Ins	INS	-	-	C																															cgatgattaggccagaccctINSccccatcctcgtgagggcca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:159166185_159166186insC	ENST00000368125.4	+	6	880_881	c.723_724insC	c.(721-726)cccccafs	p.PP241fs	CADM3_ENST00000368124.4_Frame_Shift_Ins_p.PP275fs|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	241	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGCCAGACCCTCCCCATCCTCG	0.52											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49	---	---	---	---					C	159166186	-	C	159166185	7	5	408	1	0	1	1	0	0	0	0	0	2593	1538	54	0	851	0	CADM3	1	159166185	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	3725	159166185	90084436	247	78065											
FCER1A	2205	broad.mit.edu	37	chr1	159275912	159275912	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaagctctcaagtactggTatgagaaccacaacatctcc	13	9	8	11	0	2	2	1	2	2	1	4	3	2	2	2	1	4	3	2	1	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:159275912T>C	ENST00000368115.1	+	5	565	c.466T>C	c.(466-468)Tat>Cat	p.Y156H	FCER1A_ENST00000368114.1_Missense_Mutation_p.Y123H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	156	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAAGTACTGGTATGAGAACCA	0.498													33	84					0	0	0	0	C	159275912	T	C	159275912	3	2	408	1	0	0	0	0	1	0	0	0	5819	1638	57	5	480	5	FCER1A	1	159275912	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	109727	159275912	89974709	248	78066											
ATP1A2	477	broad.mit.edu	37	chr1	160093055	160093055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcgagatgggcccaacgCcctcacaccacctcccacaa	10	4	8	19	2	1	1	1	0	0	1	3	2	2	1	5	2	1	1	5	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:160093055C>T	ENST00000361216.3	+	4	319	c.230C>T	c.(229-231)gCc>gTc	p.A77V	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A77V|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	77					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGGCCCAACGCCCTCACACCA	0.632													60	184					0	0	0	0	T	160093055	C	T	160093055	3	4	408	1	0	0	0	0	1	0	0	0	1133	739	26	4	244	4	ATP1A2	1	160093055	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	817143	160093055	89157566	249	78067											
ATP1A2	477	broad.mit.edu	37	chr1	160098602	160098602	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcccacatgtggttcgacaAccaaatccatgaggctgaca	12	7	9	13	2	0	2	0	2	0	0	2	3	1	2	3	2	1	2	3	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:160098602A>T	ENST00000361216.3	+	9	1267	c.1178A>T	c.(1177-1179)aAc>aTc	p.N393I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N393I|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	393					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGTTCGACAACCAAATCCAT	0.612													27	67					0	0	0	0	T	160098602	A	T	160098602	3	4	408	1	0	0	0	0	1	0	0	0	1133	43	2	5	1212	5	ATP1A2	1	160098602	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5547	160098602	89152019	250	78068											
VANGL2	57216	broad.mit.edu	37	chr1	160394995	160394995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagtggacattggtgagcGaggagccggtgaccaacggc	11	5	16	9	3	0	2	0	2	0	0	0	5	0	4	2	5	4	0	2	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:160394995G>A	ENST00000368061.2	+	8	1867	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	465					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.E465K(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTGGTGAGCGAGGAGCCGGT	0.552													9	45					0	0	0	0	A	160394995	G	A	160394995	3	1	408	1	0	0	0	0	1	0	0	0	17216	1059	37	1	1419	1	VANGL2	1	160394995	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	296393	160394995	88855626	251	78069											
CD244	51744	broad.mit.edu	37	chr1	160803891	160803891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatatgcaggttcttgtgAcgtgggagcagaagactaat	11	12	13	5	1	1	3	0	1	1	2	1	4	1	4	0	2	2	4	0	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:160803891A>G	ENST00000368034.4	-	7	1087	c.910T>C	c.(910-912)Tca>Cca	p.S304P	CD244_ENST00000368032.2_Missense_Mutation_p.S304P|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000322302.7_Missense_Mutation_p.S212P|CD244_ENST00000368033.3_Missense_Mutation_p.S309P	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	309					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGTTCTTGTGACGTGGGAGCA	0.428													11	58					0	0	0	0	G	160803891	A	G	160803891	3	3	408	1	0	0	0	0	1	0	0	0	3016	275	10	5	199	5	CD244	1	160803891	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	408896	160803891	88446730	252	78070											
USF1	7391	broad.mit.edu	37	chr1	161011565	161011565	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgtgctggggaagtaagtAtagtgcgtctcagcagctgt	8	10	15	8	2	1	0	1	0	1	0	2	1	1	1	1	2	4	5	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:161011565A>G	ENST00000368021.3	-	6	552	c.348T>C	c.(346-348)taT>taC	p.Y116Y	USF1_ENST00000435396.1_Silent_p.Y57Y|USF1_ENST00000368019.1_Silent_p.Y116Y|USF1_ENST00000368020.1_Silent_p.Y116Y	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	116					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGTAAGTATAGTGCGTCT	0.577											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	105					0	0	0	0	G	161011565	A	G	161011565	2	3	408	1	0	0	0	0	0	0	0	1	17128	456	16	5		5	USF1	1	161011565	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	207674	161011565	88239056	253	78071											
ARHGAP30	257106	broad.mit.edu	37	chr1	161021404	161021404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccagtgcttctgcctcagGctcctgttcaccctctgctg	4	12	8	17	0	4	0	2	0	2	0	5	0	5	0	4	1	3	4	4	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:161021404G>A	ENST00000368013.3	-	10	1440	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P374S|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P197S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	374					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTGCCTCAGGCTCCTGTTCA	0.652													34	85					0	0	0	0	A	161021404	G	A	161021404	3	1	408	1	0	0	0	0	1	0	0	0	881	1203	42	4	2197	4	ARHGAP30	1	161021404	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9839	161021404	88229217	254	78072											
FCGR3B	2215	broad.mit.edu	37	chr1	161600913	161600913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagtggacaagtcaccAaagatatccggagccctaaa	15	6	10	10	1	1	1	1	0	0	1	2	4	2	4	3	3	1	0	3	3	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:161600913A>G	ENST00000531221.1	-	1	83	c.80T>C	c.(79-81)tTg>tCg	p.L27S	FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_5'UTR|FCGR3B_ENST00000294800.3_5'UTR|FCGR3B_ENST00000367964.2_5'UTR			O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACAAGTCACCAAAGATATCCG	0.552													9	35					0	0	0	0	G	161600913	A	G	161600913	3	3	408	1	0	0	0	0	1	0	0	0	5830	145	5	5		5	FCGR3B	1	161600913	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	579509	161600913	87649708	255	78073											
DUSP27	92235	broad.mit.edu	37	chr1	167097313	167097313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagttacaagttttccaAatcccagtcagaggaacagg	13	9	8	11	0	1	1	1	0	0	1	4	2	4	2	3	2	2	2	3	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:167097313A>G	ENST00000361200.2	+	6	3111	c.2945A>G	c.(2944-2946)aAa>aGa	p.K982R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.K982R|DUSP27_ENST00000271385.5_Missense_Mutation_p.K982R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	982	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGTTTTCCAAATCCCAGTCA	0.517													9	108					0	0	0	0	G	167097313	A	G	167097313	3	3	408	1	0	0	0	0	1	0	0	0	4860	14	1	5	2963	5	DUSP27	1	167097313	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5496400	167097313	82153308	256	78074											
POU2F1	5451	broad.mit.edu	37	chr1	167345366	167345366	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagcgcagtttatcaTctcacagacgccccagggcc	9	6	10	16	2	2	1	2	0	1	1	3	1	2	1	4	1	2	3	4	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:167345366T>A	ENST00000367862.5	+	7	894	c.659T>A	c.(658-660)aTc>aAc	p.I220N	POU2F1_ENST00000420254.3_Missense_Mutation_p.I208N|POU2F1_ENST00000429375.2_Missense_Mutation_p.I168N|POU2F1_ENST00000367866.2_Missense_Mutation_p.I231N|POU2F1_ENST00000541643.3_Missense_Mutation_p.I208N|POU2F1_ENST00000452019.1_Missense_Mutation_p.I208N|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	208					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CAGTTTATCATCTCACAGACG	0.483													15	68					0	0	0	0	A	167345366	T	A	167345366	3	1	408	1	0	0	0	0	1	0	0	0	12342	1435	50	5	645	5	POU2F1	1	167345366	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	248053	167345366	81905255	257	78075											
POU2F1	5451	broad.mit.edu	37	chr1	167384807	167384807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctggtatttgccaatgcGggaggagcccccaacatcgt	10	8	11	12	2	0	0	0	0	0	0	1	2	0	2	4	3	5	1	4	3	4	2	rs34658638	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:167384807G>A	ENST00000367862.5	+	16	2263	c.2028G>A	c.(2026-2028)gcG>gcA	p.A676A	POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Silent_p.A624A|POU2F1_ENST00000367866.2_Silent_p.A687A|POU2F1_ENST00000541643.3_Silent_p.A664A|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	664					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTGCCAATGCGGGAGGAGCCC	0.547													13	127					0	0	0	0	A	167384807	G	A	167384807	2	1	408	1	0	0	0	0	0	0	0	1	12342	1103	39	1		1	POU2F1	1	167384807	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	39441	167384807	81865814	258	78076											
GPR161	23432	broad.mit.edu	37	chr1	168066456	168066456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtacaccatggggtacAggacagcatagtagctagaa	13	7	14	7	0	0	1	0	0	0	1	0	2	0	2	1	5	4	5	1	5	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:168066456A>G	ENST00000367838.1	-	5	702	c.389T>C	c.(388-390)cTg>cCg	p.L130P	GPR161_ENST00000537209.1_Missense_Mutation_p.L150P|GPR161_ENST00000367836.1_5'UTR|GPR161_ENST00000546300.1_Missense_Mutation_p.L16P|GPR161_ENST00000271357.5_Missense_Mutation_p.L130P|GPR161_ENST00000361697.2_Missense_Mutation_p.L130P|GPR161_ENST00000367835.1_Missense_Mutation_p.L130P|GPR161_ENST00000539777.1_Missense_Mutation_p.L52P	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	130					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CATGGGGTACAGGACAGCATA	0.572													29	83					0	0	0	0	G	168066456	A	G	168066456	3	3	408	1	0	0	0	0	1	0	0	0	6714	188	7	5	1216	5	GPR161	1	168066456	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	681649	168066456	81184165	259	78077											
C1orf112	55732	broad.mit.edu	37	chr1	169796951	169796951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaaccctgtggtgcaCagacagccaggtctcagaaa	13	6	11	11	0	1	2	1	0	1	2	2	2	1	2	2	2	4	2	2	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:169796951C>T	ENST00000286031.6	+	12	1797	c.1097C>T	c.(1096-1098)aCa>aTa	p.T366I	C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000359326.4_Missense_Mutation_p.T366I|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	366										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGTGGTGCACAGACAGCCAG	0.463													107	383					0	0	0	0	T	169796951	C	T	169796951	3	4	408	1	0	0	0	0	1	0	0	0	2004	478	17	4	1135	4	C1orf112	1	169796951	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1730495	169796951	79453670	260	78078											
GORAB	92344	broad.mit.edu	37	chr1	170513868	170513868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagaactcaggcagagAccatgaaactaaagcggatc	18	4	9	10	1	1	3	1	1	0	2	2	5	1	4	2	2	3	1	2	2	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:170513868A>G	ENST00000367763.3	+	4	639	c.619A>G	c.(619-621)Acc>Gcc	p.T207A	GORAB_ENST00000367762.1_Missense_Mutation_p.T207A	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	207						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCAGGCAGAGACCATGAAACT	0.413													36	129					0	0	0	0	G	170513868	A	G	170513868	3	3	408	1	0	0	0	0	1	0	0	0	6622	275	10	5	633	5	GORAB	1	170513868	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	716917	170513868	78736753	261	78079											
METTL13	51603	broad.mit.edu	37	chr1	171753286	171753286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgagggtgcaccaagtggCcaacagccaggaccaggtgt	10	5	16	10	0	0	1	0	1	0	0	0	2	0	2	4	5	3	1	4	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:171753286C>T	ENST00000361735.3	+	2	826	c.560C>T	c.(559-561)gCc>gTc	p.A187V	METTL13_ENST00000367737.5_Intron|METTL13_ENST00000458517.1_Missense_Mutation_p.A186V|METTL13_ENST00000362019.3_Missense_Mutation_p.A101V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	187							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CACCAAGTGGCCAACAGCCAG	0.587													31	84					0	0	0	0	T	171753286	C	T	171753286	3	4	408	1	0	0	0	0	1	0	0	0	9566	739	26	4	566	4	METTL13	1	171753286	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1239418	171753286	77497335	262	78080											
DNM3	26052	broad.mit.edu	37	chr1	171956897	171956897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgcgtgactggaatgaatAaaggcatttcctccataccc	12	10	8	11	2	0	2	0	2	0	0	3	3	2	3	3	2	1	1	3	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:171956897A>G	ENST00000358155.4	+	3	513	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	DNM3_ENST00000520906.1_Missense_Mutation_p.K113E|DNM3_ENST00000355305.5_Missense_Mutation_p.K113E|DNM3_ENST00000367733.2_Missense_Mutation_p.K113E|DNM3_ENST00000367731.1_Missense_Mutation_p.K113E	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	113					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGAATGAATAAAGGCATTTC	0.353													6	188					0	0	0	0	G	171956897	A	G	171956897	3	3	408	1	0	0	0	0	1	0	0	0	4709	363	13	5	347	5	DNM3	1	171956897	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	203611	171956897	77293724	263	78081											
CACYBP	27101	broad.mit.edu	37	chr1	174976282	174976282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaagagttactccatGattgtgaacaatctcttgaa	14	12	9	6	0	1	4	0	3	1	1	3	5	2	5	1	1	2	1	1	1	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:174976282G>T	ENST00000367681.2	+	4	892	c.252G>T	c.(250-252)atG>atT	p.M84I	CACYBP_ENST00000367679.2_Missense_Mutation_p.M127I|CACYBP_ENST00000405362.1_Missense_Mutation_p.M84I	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	127	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity	p.M127I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						GTTACTCCATGATTGTGAACA	0.353													23	71					2.21704e-12	2.30811e-12	1	0	T	174976282	G	T	174976282	3	4	408	1	0	0	0	0	1	0	0	0	2589	1290	45	2	395	2	CACYBP	1	174976282	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3019385	174976282	74274339	264	78082											
TNR	7143	broad.mit.edu	37	chr1	175293598	175293598	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagttagtcactgcaacaTcattgtctctatcctctgtg	9	14	6	12	0	4	0	2	0	2	0	6	0	5	0	1	0	2	2	1	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:175293598T>C	ENST00000367674.1	-	22	4559	c.3851A>G	c.(3850-3852)gAt>gGt	p.D1284G	TNR_ENST00000263525.2_Missense_Mutation_p.D1284G|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1284	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACTGCAACATCATTGTCTCT	0.502													32	87					0	0	0	0	C	175293598	T	C	175293598	3	2	408	1	0	0	0	0	1	0	0	0	16432	1435	50	5	233	5	TNR	1	175293598	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	317316	175293598	73957023	265	78083											
TNR	7143	broad.mit.edu	37	chr1	175334212	175334212	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagccacaaggttcacaaTatactctgtggctggttgca	11	10	10	10	0	2	0	1	0	1	0	2	1	2	0	1	3	3	4	1	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:175334212T>C	ENST00000367674.1	-	12	3229	c.2521A>G	c.(2521-2523)Att>Gtt	p.I841V	TNR_ENST00000263525.2_Missense_Mutation_p.I841V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	841	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGTTCACAATATACTCTGTG	0.567													4	92					0	0	0	0	C	175334212	T	C	175334212	3	2	408	1	0	0	0	0	1	0	0	0	16432	1406	49	5	1603	5	TNR	1	175334212	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	40614	175334212	73916409	266	78084											
FAM20B	9917	broad.mit.edu	37	chr1	179033563	179033563	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgattggcaatgctgaccgCcatcactatgagagctttca	10	11	9	11	1	2	3	2	3	0	1	2	4	2	3	2	1	2	3	2	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:179033563C>G	ENST00000263733.4	+	6	1206	c.870C>G	c.(868-870)cgC>cgG	p.R290R		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	290						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						ATGCTGACCGCCATCACTATG	0.493													20	66					0	0	0	0	G	179033563	C	G	179033563	2	3	408	1	0	0	0	0	0	0	0	1	5581	726	26	4		4	FAM20B	1	179033563	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3699351	179033563	70217058	267	78085											
SOAT1	6646	broad.mit.edu	37	chr1	179271879	179271879	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtccagggaaaatccTgaggaagatgaagaccagag	17	5	12	7	0	1	5	1	2	0	3	3	7	3	7	3	2	0	0	3	2	5	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:179271879T>C	ENST00000367619.3	+	2	203	c.60T>C	c.(58-60)ccT>ccC	p.P20P	SOAT1_ENST00000535686.1_Intron|SOAT1_ENST00000540564.1_5'UTR|SOAT1_ENST00000539888.1_Intron	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	20					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGAAAATCCTGAGGAAGATG	0.398													10	87					0	0	0	0	C	179271879	T	C	179271879	2	2	408	1	0	0	0	0	0	0	0	1	14998	1567	55	5		5	SOAT1	1	179271879	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	238316	179271879	69978742	268	78086											
XPR1	9213	broad.mit.edu	37	chr1	180832973	180832973	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgataagaatgctggagagaAcactttcctccgggaagaga	14	7	12	8	2	0	3	0	0	0	3	2	8	2	5	2	2	2	1	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:180832973A>G	ENST00000367590.4	+	12	1829	c.1631A>G	c.(1630-1632)aAc>aGc	p.N544S	XPR1_ENST00000367589.3_Missense_Mutation_p.N479S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	544	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GCTGGAGAGAACACTTTCCTC	0.398													30	76					0	0	0	0	G	180832973	A	G	180832973	3	3	408	1	0	0	0	0	1	0	0	0	17547	43	2	5	1677	5	XPR1	1	180832973	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1561094	180832973	68417648	269	78087											
DHX9	1660	broad.mit.edu	37	chr1	182852455	182852455	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgttaattgtccttttagTagccaagacatgaagtaccc	11	14	7	9	0	1	2	0	1	1	1	2	2	2	2	3	0	2	3	3	0	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:182852455T>C	ENST00000367549.3	+	25	3206	c.3096T>C	c.(3094-3096)agT>agC	p.S1032S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1032					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTCCTTTTAGTAGCCAAGACA	0.358													13	29					0	0	0	0	C	182852455	T	C	182852455	2	2	408	1	0	0	0	0	0	0	0	1	4553	1635	57	5		5	DHX9	1	182852455	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2019482	182852455	66398166	270	78088											
SMG7	9887	broad.mit.edu	37	chr1	183495741	183495741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttagttattacaagAactgtgtacagtatttaatg	12	19	6	4	0	1	1	0	0	1	1	1	1	1	1	0	0	3	3	0	0	8	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:183495741A>G	ENST00000367537.3	+	6	605	c.410A>G	c.(409-411)gAa>gGa	p.E137G	SMG7_ENST00000507469.1_Missense_Mutation_p.E108G|SMG7_ENST00000456731.2_Missense_Mutation_p.E66G|SMG7_ENST00000515829.2_Missense_Mutation_p.E108G|SMG7_ENST00000347615.2_Missense_Mutation_p.E108G|SMG7_ENST00000508461.1_Missense_Mutation_p.E66G|SMG7_ENST00000507406.1_3'UTR			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	108					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTATTACAAGAACTGTGTACA	0.343													15	92					0	0	0	0	G	183495741	A	G	183495741	3	3	408	1	0	0	0	0	1	0	0	0	14886	246	9	5	341	5	SMG7	1	183495741	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	643286	183495741	65754880	271	78089											
RGL1	23179	broad.mit.edu	37	chr1	183885723	183885723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgctctgtctcggtgaCgtccattacctcgactgtgc	6	11	10	14	4	2	1	0	1	2	0	5	2	3	1	2	1	3	1	2	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:183885723C>T	ENST00000304685.3	+	17	2458	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	RGL1_ENST00000539189.1_Missense_Mutation_p.T602M|RGL1_ENST00000367531.1_Missense_Mutation_p.T666M|RGL1_ENST00000536277.1_Missense_Mutation_p.T629M|RGL1_ENST00000360851.3_Missense_Mutation_p.T631M	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	631	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.T666M(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GTCTCGGTGACGTCCATTACC	0.502													54	114					0	0	0	0	T	183885723	C	T	183885723	3	4	408	1	0	0	0	0	1	0	0	0	13358	536	19	1	2059	1	RGL1	1	183885723	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	389982	183885723	65364898	272	78090											
HMCN1	83872	broad.mit.edu	37	chr1	186113680	186113680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcatggcaagtgggCgacttgggccagttggagtg	7	10	16	8	1	1	0	1	0	0	0	2	2	2	1	2	4	0	3	2	4	1	3	rs41317503	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186113680C>T	ENST00000271588.4	+	91	14340	c.14111C>T	c.(14110-14112)gCg>gTg	p.A4704V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A4704V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4704	TSP type-1 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAAGTGGGCGACTTGGGCC	0.517													9	232					0	0	0	0	T	186113680	C	T	186113680	3	4	408	1	0	0	0	0	1	0	0	0	7270	768	27	1	14473	1	HMCN1	1	186113680	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2227957	186113680	63136941	273	78091											
PRG4	10216	broad.mit.edu	37	chr1	186276402	186276402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggagccttcacccacCactcccaaggagcctgcacc	11	4	7	19	0	1	0	1	0	0	0	2	2	2	2	7	2	3	1	7	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186276402C>T	ENST00000445192.2	+	7	1596	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	PRG4_ENST00000367483.4_Silent_p.T476T|PRG4_ENST00000367486.3_Silent_p.T474T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T424T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	517	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTTCACCCACCACTCCCAAGG	0.642													5	176					0	0	0	0	T	186276402	C	T	186276402	2	4	408	1	0	0	0	0	0	0	0	1	12561	581	21	4		4	PRG4	1	186276402	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	162722	186276402	62974219	274	78092											
PRG4	10216	broad.mit.edu	37	chr1	186277353	186277353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactacccccaaggagccTgcacccactacccccaagaa	13	3	5	20	0	0	1	0	0	0	1	0	2	0	2	7	1	5	1	7	1	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186277353T>C	ENST00000445192.2	+	7	2547	c.2502T>C	c.(2500-2502)ccT>ccC	p.P834P	PRG4_ENST00000367483.4_Silent_p.P793P|PRG4_ENST00000367486.3_Silent_p.P791P|PRG4_ENST00000367484.3_Silent_p.P363P|PRG4_ENST00000367485.4_Silent_p.P741P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	834	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAAGGAGCCTGCACCCACTA	0.577													90	302					0	0	0	0	C	186277353	T	C	186277353	2	2	408	1	0	0	0	0	0	0	0	1	12561	1567	55	5		5	PRG4	1	186277353	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	951	186277353	62973268	275	78093											
TPR	7175	broad.mit.edu	37	chr1	186303547	186303547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgtaaccattgggcGgatactagccctgggtgttg	7	11	15	8	1	0	0	0	0	0	0	0	1	0	1	2	4	4	3	2	4	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186303547G>A	ENST00000367478.3	-	36	5388	c.5092C>T	c.(5092-5094)Cgc>Tgc	p.R1698C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1698					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.R1699C(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACCATTGGGCGGATACTAGCC	0.468			T	NTRK1	papillary thyroid								29	67					0	0	0	0	A	186303547	G	A	186303547	3	1	408	1	0	0	0	0	1	0	0	0	16511	1116	39	1	2063	1	TPR	1	186303547	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	26194	186303547	62947074	276	78094											
PTGS2	5743	broad.mit.edu	37	chr1	186648239	186648239	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaaggaagggaatgttattCacaacgttccaaaatccctt	14	10	8	9	2	1	0	1	0	0	0	3	3	3	2	2	2	1	2	2	2	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186648239C>T	ENST00000367468.5	-	3	400	c.264G>A	c.(262-264)gtG>gtA	p.V88V	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	88					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAATGTTATTCACAACGTTCC	0.353													12	51					0	0	0	0	T	186648239	C	T	186648239	2	4	408	1	0	0	0	0	0	0	0	1	12836	813	29	2		2	PTGS2	1	186648239	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	344692	186648239	62602382	277	78095											
KCNT2	343450	broad.mit.edu	37	chr1	196434491	196434491	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaacattgcagactgtgtAcgctgaatggctctgtgtag	10	13	11	7	1	1	2	0	1	1	1	1	2	1	2	0	1	3	5	0	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:196434491A>G	ENST00000367433.5	-	8	671	c.570T>C	c.(568-570)cgT>cgC	p.R190R	KCNT2_ENST00000367431.4_Silent_p.R190R|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.R190R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	190						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGACTGTGTACGCTGAATGG	0.279													15	52					0	0	0	0	G	196434491	A	G	196434491	2	3	408	1	0	0	0	0	0	0	0	1	8145	378	14	5		5	KCNT2	1	196434491	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	9786252	196434491	52816130	278	78096											
CFH	3075	broad.mit.edu	37	chr1	196694375	196694375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacaatagttggacctaaTtccgttcagtgctaccactt	10	15	6	10	1	1	0	1	0	0	0	2	1	2	1	3	1	3	3	3	1	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:196694375T>C	ENST00000367429.4	+	12	2061	c.1821T>C	c.(1819-1821)aaT>aaC	p.N607N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	607	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGGACCTAATTCCGTTCAGT	0.378													21	89					0	0	0	0	C	196694375	T	C	196694375	2	2	408	1	0	0	0	0	0	0	0	1	3312	1490	52	5		5	CFH	1	196694375	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	259884	196694375	52556246	279	78097											
CFHR5	81494	broad.mit.edu	37	chr1	196963354	196963354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagttcaatgttaccaatTtgggtggtcacctaactttc	9	15	7	10	0	3	0	3	0	0	0	4	0	3	0	2	2	2	2	2	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:196963354T>C	ENST00000367414.5	+	4	703	c.647T>C	c.(646-648)tTt>tCt	p.F216S	CFHR5_ENST00000256785.4_Missense_Mutation_p.F192S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	192	Sushi 4.		N -> S (in a breast cancer sample; somatic mutation).		complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGTTACCAATTTGGGTGGTCA	0.323													36	108					0	0	0	0	C	196963354	T	C	196963354	3	2	408	1	0	0	0	0	1	0	0	0	3317	1841	64	5	589	5	CFHR5	1	196963354	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	268979	196963354	52287267	280	78098											
F13B	2165	broad.mit.edu	37	chr1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatgttctttcctacaggTtggttgagaagaccatccat	10	13	8	10	0	1	2	0	1	1	2	3	3	3	2	4	2	1	3	4	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:197030932T>C	ENST00000367412.1	-	3	476	c.433A>G	c.(433-435)Acc>Gcc	p.T145A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	145	Sushi 2.				blood coagulation	extracellular region		p.T145A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCTACAGGTTGGTTGAGAA	0.373													10	46					0	0	0	0	C	197030932	T	C	197030932	3	2	408	1	0	0	0	0	1	0	0	0	5379	1725	60	5	1592	5	F13B	1	197030932	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	67578	197030932	52219689	281	78099											
LHX9	56956	broad.mit.edu	37	chr1	197896780	197896780	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccttatccaccctcgCagaagaccaagcgcatgcga	12	5	9	15	3	0	2	0	0	0	2	2	3	1	2	4	0	4	3	4	0	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:197896780C>T	ENST00000367390.3	+	5	793	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	LHX9_ENST00000561173.1_Nonsense_Mutation_p.Q271*|LHX9_ENST00000367387.4_Nonsense_Mutation_p.Q265*|LHX9_ENST00000367391.1_Nonsense_Mutation_p.Q256*|LHX9_ENST00000337020.2_Nonsense_Mutation_p.Q265*	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	265					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TCCACCCTCGCAGAAGACCAA	0.512													7	402					0	0	0	0	T	197896780	C	T	197896780	4	4	408	1	0	0	0	0	0	1	0	0	8831	711	25	4	839	4	LHX9	1	197896780	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	865848	197896780	51353841	282	78100											
DDX59	83479	broad.mit.edu	37	chr1	200635318	200635318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccagctgctgtttaagaTtttcaatctggtcttcctga	7	17	7	10	0	3	2	1	1	2	1	5	2	5	2	2	1	2	3	2	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200635318T>C	ENST00000447706.2	-	2	702	c.551A>G	c.(550-552)aAt>aGt	p.N184S	DDX59_ENST00000367348.3_Missense_Mutation_p.N184S|DDX59_ENST00000331314.6_Missense_Mutation_p.N184S			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	184						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTGTTTAAGATTTTCAATCTG	0.433													7	159					0	0	0	0	C	200635318	T	C	200635318	3	2	408	1	0	0	0	0	1	0	0	0	4408	1493	52	5	1336	5	DDX59	1	200635318	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2738538	200635318	48615303	283	78101											
GPR25	2848	broad.mit.edu	37	chr1	200842781	200842781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagggcctcagcttgctgCtgctgctgctgaccttcgtg	3	12	12	14	1	1	1	1	1	0	0	3	1	2	1	3	1	6	6	3	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200842781C>T	ENST00000304244.2	+	1	699	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	206	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CAGCTTGCTGCTGCTGCTGCT	0.726													4	33					0	0	0	0	T	200842781	C	T	200842781	2	4	408	1	0	0	0	0	0	0	0	1	6732	796	28	4		4	GPR25	1	200842781	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	207463	200842781	48407840	284	78102											
KIF21B	23046	broad.mit.edu	37	chr1	200944736	200944736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcgatgccatcgtagtgcGggggctcgaagttgtgagtg	7	10	16	8	4	0	1	0	1	0	0	3	3	0	1	1	2	2	3	1	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200944736G>A	ENST00000332129.2	-	32	4782	c.4466C>T	c.(4465-4467)cCg>cTg	p.P1489L	KIF21B_ENST00000461742.2_Missense_Mutation_p.P1502L|KIF21B_ENST00000422435.2_Missense_Mutation_p.P1502L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P1489L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1502					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P1489L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATCGTAGTGCGGGGGCTCGAA	0.612													13	49					0	0	0	0	A	200944736	G	A	200944736	3	1	408	1	0	0	0	0	1	0	0	0	8340	1116	39	1	420	1	KIF21B	1	200944736	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	101955	200944736	48305885	285	78103											
KIF21B	23046	broad.mit.edu	37	chr1	200954079	200954079	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaggggatgatgggggTgtgaatcccacatctgtgga	8	9	19	5	0	1	2	0	2	1	0	2	5	2	5	1	6	0	0	1	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200954079T>A	ENST00000332129.2	-	27	4027	c.3711A>T	c.(3709-3711)acA>acT	p.T1237T	KIF21B_ENST00000461742.2_Silent_p.T1237T|KIF21B_ENST00000422435.2_Silent_p.T1237T|KIF21B_ENST00000360529.5_Silent_p.T1237T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1237					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGATGGGGGTGTGAATCCCA	0.607													14	63					0	0	0	0	A	200954079	T	A	200954079	2	1	408	1	0	0	0	0	0	0	0	1	8340	1683	59	5		5	KIF21B	1	200954079	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9343	200954079	48296542	286	78104											
LAD1	3898	broad.mit.edu	37	chr1	201356220	201356220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctccgctcctgccgtgttCtgaggatgctctggatgtcc	3	12	12	14	2	2	1	0	1	2	0	5	3	5	3	5	2	2	3	5	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:201356220C>T	ENST00000391967.2	-	3	570	c.269G>A	c.(268-270)aGa>aAa	p.R90K	LAD1_ENST00000367313.3_Missense_Mutation_p.R104K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	90						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTGCCGTGTTCTGAGGATGCT	0.622													19	31					0	0	0	0	T	201356220	C	T	201356220	3	4	408	1	0	0	0	0	1	0	0	0	8652	913	32	2	1316	2	LAD1	1	201356220	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	402141	201356220	47894401	287	78105											
NAV1	89796	broad.mit.edu	37	chr1	201779810	201779810	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccaatcgcttggccgagtAcctggtggagcgctctggcc	6	8	14	13	3	1	0	0	0	1	0	2	3	1	1	4	4	2	3	4	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:201779810A>C	ENST00000367296.4	+	24	5141	c.4721A>C	c.(4720-4722)tAc>tCc	p.Y1574S	NAV1_ENST00000367297.4_Missense_Mutation_p.Y1566S|NAV1_ENST00000367295.1_Missense_Mutation_p.Y1180S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.Y1527S|NAV1_ENST00000367300.3_Missense_Mutation_p.Y1514S|NAV1_ENST00000295624.6_Missense_Mutation_p.Y1571S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1574					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTGGCCGAGTACCTGGTGGAG	0.642													11	48					0	0	0	0	C	201779810	A	C	201779810	3	2	408	1	0	0	0	0	1	0	0	0	10253	391	14	5	4872	5	NAV1	1	201779810	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	423590	201779810	47470811	288	78106											
GPR37L1	9283	broad.mit.edu	37	chr1	202096921	202096921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgccctgggcattgaccGcttccacgtggccaccagca	6	8	11	16	2	0	1	0	1	0	0	1	1	1	1	5	2	2	3	5	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:202096921G>A	ENST00000367282.4	+	2	789	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	228						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGCATTGACCGCTTCCACGTG	0.592													24	54					0	0	0	0	A	202096921	G	A	202096921	3	1	408	1	0	0	0	0	1	0	0	0	6741	1087	38	1	689	1	GPR37L1	1	202096921	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	317111	202096921	47153700	289	78107											
PTPN7	5778	broad.mit.edu	37	chr1	202128645	202128645	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggccagaaggaggctccCatgccaggccaggtttgcac	9	7	13	12	0	0	1	0	0	0	1	1	2	1	2	4	5	2	3	4	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:202128645C>T	ENST00000367279.4	-	1	474	c.3G>A	c.(1-3)atG>atA	p.M1I	PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000308986.5_Intron	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	0						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AGGAGGCTCCCATGCCAGGCC	0.587													19	59					0	0	0	0	T	202128645	C	T	202128645	1	4	408	1	0	0	0	0	0	0	0	0	12875	594	21	4		4	PTPN7	1	202128645	Translation_Start_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	31724	202128645	47121976	290	78108											
KDM5B	10765	broad.mit.edu	37	chr1	202722136	202722136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggagctagtttcttcattAcattttctagctgctcagca	8	16	7	10	0	4	0	2	0	2	0	4	1	4	1	0	1	5	5	0	1	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:202722136A>G	ENST00000367265.3	-	12	2762	c.1598T>C	c.(1597-1599)gTa>gCa	p.V533A	KDM5B_ENST00000367264.2_Missense_Mutation_p.V569A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	533	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTCTTCATTACATTTTCTAG	0.448													29	58					0	0	0	0	G	202722136	A	G	202722136	3	3	408	1	0	0	0	0	1	0	0	0	8186	391	14	5	3100	5	KDM5B	1	202722136	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	593491	202722136	46528485	291	78109											
PPFIA4	8497	broad.mit.edu	37	chr1	203026055	203026055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggctgatccagctgaGtcgggatggagccacaggcc	8	5	17	11	1	0	2	0	2	0	0	2	4	1	4	3	5	2	3	3	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:203026055G>A	ENST00000367240.2	+	18	2848	c.2321G>A	c.(2320-2322)aGt>aAt	p.S774N	PPFIA4_ENST00000599966.1_Missense_Mutation_p.S289N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S289N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S502N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S773N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S289N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	289					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCCAGCTGAGTCGGGATGGA	0.612													17	72					0	0	0	0	A	203026055	G	A	203026055	3	1	408	1	0	0	0	0	1	0	0	0	12383	1029	36	4	888	4	PPFIA4	1	203026055	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	303919	203026055	46224566	292	78110											
CHIT1	1118	broad.mit.edu	37	chr1	203186872	203186872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccttacttactcagtTcctgccgtagcgtctggatg	5	12	11	13	2	2	0	1	0	1	0	3	1	3	1	4	2	4	2	4	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:203186872T>C	ENST00000367229.1	-	10	1185	c.1151A>G	c.(1150-1152)gAa>gGa	p.E384G	CHIT1_ENST00000535569.1_Missense_Mutation_p.E375G|CHIT1_ENST00000255427.3_Missense_Mutation_p.E365G|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	384					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTTACTCAGTTCCTGCCGTAG	0.592													5	51					0	0	0	0	C	203186872	T	C	203186872	3	2	408	1	0	0	0	0	1	0	0	0	3375	1783	62	5	257	5	CHIT1	1	203186872	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	160817	203186872	46063749	293	78111											
PIK3C2B	5287	broad.mit.edu	37	chr1	204412676	204412676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaaggctgccagcagatActggtagcggatgctgaact	11	8	13	9	1	0	2	0	1	0	1	0	3	0	3	1	3	6	5	1	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:204412676A>G	ENST00000367187.3	-	20	3473	c.2917T>C	c.(2917-2919)Tat>Cat	p.Y973H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Y945H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	973					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCAGCAGATACTGGTAGCGG	0.572													55	198					0	0	0	0	G	204412676	A	G	204412676	3	3	408	1	0	0	0	0	1	0	0	0	11982	391	14	5	2047	5	PIK3C2B	1	204412676	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1225804	204412676	44837945	294	78112											
NFASC	23114	broad.mit.edu	37	chr1	204957844	204957844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcaaagaacggaccccGtgtcacgctaccgctttacc	9	7	10	15	5	1	1	1	0	0	1	1	2	1	2	4	2	4	3	4	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:204957844G>A	ENST00000367172.4	+	25	3326	c.2998G>A	c.(2998-3000)Gtg>Atg	p.V1000M	NFASC_ENST00000338586.6_Missense_Mutation_p.V1000M|NFASC_ENST00000401399.1_Missense_Mutation_p.V893M|NFASC_ENST00000513543.1_Missense_Mutation_p.V996M|NFASC_ENST00000404907.1_Missense_Mutation_p.V996M|NFASC_ENST00000539706.1_Missense_Mutation_p.V996M|NFASC_ENST00000367171.4_Missense_Mutation_p.V985M|NFASC_ENST00000367170.4_Missense_Mutation_p.V1000M|NFASC_ENST00000367169.4_Missense_Mutation_p.V893M|NFASC_ENST00000404076.1_Missense_Mutation_p.V979M|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.V996M|NFASC_ENST00000339876.6_Missense_Mutation_p.V893M|NFASC_ENST00000338515.6_Missense_Mutation_p.V1000M			O94856	NFASC_HUMAN	neurofascin	1000	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACGGACCCCGTGTCACGCTA	0.562													33	97					0	0	0	0	A	204957844	G	A	204957844	3	1	408	1	0	0	0	0	1	0	0	0	10429	1145	40	1	3172	1	NFASC	1	204957844	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	545168	204957844	44292777	295	78113											
CNTN2	6900	broad.mit.edu	37	chr1	205027164	205027164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgttgctggcatgccgCgcccgggccagccctccagc	4	6	14	17	3	0	0	0	0	0	0	1	0	1	0	5	3	4	3	5	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:205027164C>T	ENST00000331830.4	+	3	470	c.186C>T	c.(184-186)cgC>cgT	p.R62R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	62	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGCATGCCGCGCCCGGGCCA	0.637													9	44					0	0	0	0	T	205027164	C	T	205027164	2	4	408	1	0	0	0	0	0	0	0	1	3671	755	27	1		1	CNTN2	1	205027164	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	69320	205027164	44223457	296	78114											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312508	205312508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatccgcttccccagggcGgtgacggccacccccgcccg	5	5	12	19	5	0	2	0	2	0	0	2	2	2	2	7	3	0	1	7	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:205312508G>A	ENST00000367156.3	-	5	1041	c.225C>T	c.(223-225)acC>acT	p.T75T	KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.T75T|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.T75T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	75										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCCCCAGGGCGGTGACGGCCA	0.667													56	173					0	0	0	0	A	205312508	G	A	205312508	2	1	408	1	0	0	0	0	0	0	0	1	8414	1103	39	1		1	KLHDC8A	1	205312508	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	285344	205312508	43938113	297	78115											
AVPR1B	553	broad.mit.edu	37	chr1	206230826	206230826	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattccaccaatgtggcttTcaccatctctatgcttttgg	8	15	7	11	0	2	1	1	0	1	1	4	1	3	1	3	2	1	2	3	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:206230826T>C	ENST00000367126.4	+	2	1424	c.959T>C	c.(958-960)tTc>tCc	p.F320S		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	320					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.F320Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	AATGTGGCTTTCACCATCTCT	0.557													13	37					0	0	0	0	C	206230826	T	C	206230826	3	2	408	1	0	0	0	0	1	0	0	0	1236	1783	62	5	965	5	AVPR1B	1	206230826	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	918318	206230826	43019795	298	78116											
YOD1	55432	broad.mit.edu	37	chr1	207222726	207222726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcacattggtaaaacttgGacaaaatcgatatctctatt	14	15	5	7	1	2	0	1	0	1	0	4	2	2	1	0	2	1	1	0	2	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:207222726G>A	ENST00000367084.1	-	4	758	c.554C>T	c.(553-555)tCc>tTc	p.S185F	YOD1_ENST00000315927.4_Missense_Mutation_p.S229F|YOD1_ENST00000391927.1_Missense_Mutation_p.S185F	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	229	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GTAAAACTTGGACAAAATCGA	0.388													48	163					0	0	0	0	A	207222726	G	A	207222726	3	1	408	1	0	0	0	0	1	0	0	0	17584	1174	41	2	364	2	YOD1	1	207222726	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	991900	207222726	42027895	299	78117											
CR2	1380	broad.mit.edu	37	chr1	207648545	207648545	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgggtgccaggtgtgccAacttgtatcaaaaaaggtaa	14	9	11	7	0	1	0	1	0	0	0	1	0	1	0	2	3	3	2	2	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:207648545A>G	ENST00000367057.3	+	14	2889	c.2700A>G	c.(2698-2700)ccA>ccG	p.P900P	CR2_ENST00000367058.3_Silent_p.P841P|CR2_ENST00000458541.2_Silent_p.P814P|CR2_ENST00000367059.3_Silent_p.P841P	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	966	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGGTGTGCCAACTTGTATCA	0.403													29	92					0	0	0	0	G	207648545	A	G	207648545	2	3	408	1	0	0	0	0	0	0	0	1	3872	117	5	5		5	CR2	1	207648545	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	425819	207648545	41602076	300	78118											
CR1L	1379	broad.mit.edu	37	chr1	207868064	207868064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtgccaggccctgaacaAatgggagccagagttaccaa	14	5	12	10	0	0	2	0	1	0	1	0	4	0	3	4	2	4	1	4	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:207868064A>G	ENST00000508064.2	+	5	890	c.830A>G	c.(829-831)aAa>aGa	p.K277R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	277	Sushi 4.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCCTGAACAAATGGGAGCCA	0.512													4	199					0	0	0	0	G	207868064	A	G	207868064	3	3	408	1	0	0	0	0	1	0	0	0	3871	14	1	5	848	5	CR1L	1	207868064	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	219519	207868064	41382557	301	78119											
CD34	947	broad.mit.edu	37	chr1	208061250	208061250	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctccaccgttttccgTgtaataagggtcttcgccct	5	13	9	14	3	1	0	0	0	1	0	4	0	3	0	5	2	0	2	5	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:208061250T>C	ENST00000310833.7	-	8	1312	c.991A>G	c.(991-993)Acg>Gcg	p.T331A	CD34_ENST00000537704.1_Missense_Mutation_p.T196A|CD34_ENST00000367036.3_Missense_Mutation_p.T173A|CD34_ENST00000485761.1_Intron|CD34_ENST00000356522.4_3'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	331					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCGTTTTCCGTGTAATAAGGG	0.552													5	29					0	0	0	0	C	208061250	T	C	208061250	3	2	408	1	0	0	0	0	1	0	0	0	3035	1696	59	5	170	5	CD34	1	208061250	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	193186	208061250	41189371	302	78120											
PLXNA2	5362	broad.mit.edu	37	chr1	208206837	208206837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggctgtcggggctgcccgTatacctgaaggaggagtctg	7	8	16	10	2	1	1	0	1	1	0	2	3	1	3	2	5	2	3	2	5	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:208206837T>C	ENST00000367033.3	-	28	5639	c.4882A>G	c.(4882-4884)Acg>Gcg	p.T1628A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1628					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGGCTGCCCGTATACCTGAAG	0.602													6	33					0	0	0	0	C	208206837	T	C	208206837	3	2	408	1	0	0	0	0	1	0	0	0	12192	1638	57	5	822	5	PLXNA2	1	208206837	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	145587	208206837	41043784	303	78121											
RD3	343035	broad.mit.edu	37	chr1	211652549	211652549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcaggctccactggcgCgtcagcttgtgggcctcctc	3	8	14	16	3	1	0	1	0	0	0	4	0	3	0	4	4	1	3	4	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:211652549C>T	ENST00000367002.4	-	3	1580	c.417G>A	c.(415-417)acG>acA	p.T139T	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	139					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TCCACTGGCGCGTCAGCTTGT	0.682													7	14					0	0	0	0	T	211652549	C	T	211652549	2	4	408	1	0	0	0	0	0	0	0	1	13269	755	27	1		1	RD3	1	211652549	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3445712	211652549	37598072	304	78122											
PPP2R5A	5525	broad.mit.edu	37	chr1	212530583	212530583	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgataaaattctgccaattAtgtttgccagtttgtacaaa	13	16	6	6	0	1	1	0	1	1	0	1	1	1	1	2	0	3	3	2	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:212530583A>T	ENST00000261461.2	+	11	1757	c.1183A>T	c.(1183-1185)Atg>Ttg	p.M395L	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.M338L	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	395					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCTGCCAATTATGTTTGCCAG	0.284													8	25					0	0	0	0	T	212530583	A	T	212530583	3	4	408	1	0	0	0	0	1	0	0	0	12468	449	16	5	1225	5	PPP2R5A	1	212530583	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	878034	212530583	36720038	305	78123											
FAM71A	149647	broad.mit.edu	37	chr1	212799452	212799452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggacagcatggaagggaGcgaacccaggccagcgctga	12	3	16	10	2	0	1	0	1	0	0	0	5	0	4	2	4	4	2	2	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:212799452G>A	ENST00000294829.3	+	1	1664	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	411										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ATGGAAGGGAGCGAACCCAGG	0.622													20	72					0	0	0	0	A	212799452	G	A	212799452	2	1	408	1	0	0	0	0	0	0	0	1	5653	962	34	4		4	FAM71A	1	212799452	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	268869	212799452	36451169	306	78124											
FLVCR1	28982	broad.mit.edu	37	chr1	213062505	213062505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatatttggaattttgttCacattggctcaaggaaagct	12	15	9	5	0	2	1	2	0	0	1	2	3	2	3	0	3	1	3	0	3	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:213062505C>T	ENST00000366971.4	+	8	1629	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	477					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAATTTTGTTCACATTGGCTC	0.303													19	74					0	0	0	0	T	213062505	C	T	213062505	2	4	408	1	0	0	0	0	0	0	0	1	5990	825	29	2		2	FLVCR1	1	213062505	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	263053	213062505	36188116	307	78125											
CENPF	1063	broad.mit.edu	37	chr1	214830564	214830564	+	Frame_Shift_Del	DEL	A	A	-																															aaagaggttatcatctggccAaaataaagcttcaggcaaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:214830564delA	ENST00000366955.3	+	18	8942	c.8774delA	c.(8773-8775)cafs	p.Q2925fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3021	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATCTGGCCAAAATAAAGCT	0.453													33	109	---	---	---	---					-	214830564	A	-	214830564	7	5	408	1	0	1	0	1	0	0	0	0	3260	130	5	0	8840	0	CENPF	1	214830564	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	1768059	214830564	34420057	308	78126											
USH2A	7399	broad.mit.edu	37	chr1	216462747	216462747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttgcacagctcacagtTccttcctgcatcagggaaag	10	10	8	13	0	2	0	2	0	0	0	5	1	5	1	3	1	3	4	3	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:216462747T>C	ENST00000366943.2	-	11	2232	c.1846A>G	c.(1846-1848)Aac>Gac	p.N616D	USH2A_ENST00000307340.3_Missense_Mutation_p.N616D|USH2A_ENST00000366942.3_Missense_Mutation_p.N616D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	616	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTCACAGTTCCTTCCTGCA	0.403										HNSCC(13;0.011)			7	90					0	0	0	0	C	216462747	T	C	216462747	3	2	408	1	0	0	0	0	1	0	0	0	17132	1783	62	5	14024	5	USH2A	1	216462747	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1632183	216462747	32787874	309	78127											
USH2A	7399	broad.mit.edu	37	chr1	216498739	216498739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaaacccatgaagtacCaacatcattatcattgacaa	17	11	4	9	0	2	3	2	3	0	0	2	3	2	3	2	0	3	1	2	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:216498739C>A	ENST00000366943.2	-	6	1437	c.1051G>T	c.(1051-1053)Ggt>Tgt	p.G351C	USH2A_ENST00000307340.3_Missense_Mutation_p.G351C|USH2A_ENST00000366942.3_Missense_Mutation_p.G351C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	351	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATGAAGTACCAACATCATTA	0.388										HNSCC(13;0.011)			16	76					1.02788e-11	1.06863e-11	1	0	A	216498739	C	A	216498739	3	1	408	1	0	0	0	0	1	0	0	0	17132	594	21	4	14839	4	USH2A	1	216498739	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	35992	216498739	32751882	310	78128											
SLC30A10	55532	broad.mit.edu	37	chr1	220088800	220088800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtaccagattaaaaatgCgttctgttgacataacattg	14	13	8	6	1	1	3	0	2	1	1	1	3	1	3	1	0	3	3	1	0	5	6	rs148203711		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:220088800C>T	ENST00000366926.3	-	4	1610	c.1449G>A	c.(1447-1449)acG>acA	p.T483T	SLC30A10_ENST00000536446.1_Silent_p.T238T|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	483					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ATTAAAAATGCGTTCTGTTGA	0.438													59	218					0	0	0	0	T	220088800	C	T	220088800	2	4	408	1	0	0	0	0	0	0	0	1	14642	755	27	1		1	SLC30A10	1	220088800	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3590061	220088800	29161821	311	78129											
EPRS	2058	broad.mit.edu	37	chr1	220170409	220170409	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagatttactttccagaatActtgctgaggaattagaaga	15	12	9	5	0	0	5	0	1	0	4	1	7	1	6	1	1	3	1	1	1	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:220170409A>G	ENST00000366923.3	-	18	2726	c.2457T>C	c.(2455-2457)agT>agC	p.S819S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	819	3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTTCCAGAATACTTGCTGAGG	0.398													5	116					0	0	0	0	G	220170409	A	G	220170409	2	3	408	1	0	0	0	0	0	0	0	1	5229	388	14	5		5	EPRS	1	220170409	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	81609	220170409	29080212	312	78130											
C1orf65	164127	broad.mit.edu	37	chr1	223568079	223568079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaagaaggtccaggAcaccaacctgagctccctca	12	4	11	14	0	1	3	1	1	0	2	3	4	3	4	5	3	2	1	5	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:223568079A>G	ENST00000366875.3	+	1	1365	c.1262A>G	c.(1261-1263)gAc>gGc	p.D421G		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	421										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAGGTCCAGGACACCAACCTG	0.612													10	54					0	0	0	0	G	223568079	A	G	223568079	3	3	408	1	0	0	0	0	1	0	0	0	2075	275	10	5	1264	5	C1orf65	1	223568079	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3397670	223568079	25682542	313	78131											
TP53BP2	7159	broad.mit.edu	37	chr1	224001956	224001956	+	Frame_Shift_Del	DEL	G	G	-																															acctaccaatgtccctgccaGgggggcgttcatgacgaagg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:224001956delG	ENST00000343537.7	-	3	566	c.275delC	c.(274-276)ctfs	p.P92fs	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	86					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTCCCTGCCAGGGGGGCGTTC	0.473													27	92	---	---	---	---					-	224001956	G	-	224001956	7	5	408	1	0	1	0	1	0	0	0	0	16479	1000	35	0	3193	0	TP53BP2	1	224001956	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	433877	224001956	25248665	314	78132											
PYCR2	29920	broad.mit.edu	37	chr1	226109591	226109591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccactgagccccgtgacGgcatcgatgaggtcctcttc	6	9	11	15	3	1	3	0	3	1	0	4	4	2	3	4	2	2	1	4	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:226109591G>A	ENST00000343818.6	-	4	655	c.507C>T	c.(505-507)gcC>gcT	p.A169A	RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	169					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GCCCCGTGACGGCATCGATGA	0.647													8	21					0	0	0	0	A	226109591	G	A	226109591	2	1	408	1	0	0	0	0	0	0	0	1	12938	1103	39	1		1	PYCR2	1	226109591	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2107635	226109591	23141030	315	78133											
ACBD3	64746	broad.mit.edu	37	chr1	226340106	226340106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagtgtttggagagtctgtCcattcaaaatacaccccaaa	13	10	8	10	0	2	1	1	0	1	1	3	2	3	1	3	1	1	2	3	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:226340106C>G	ENST00000366812.5	-	7	1359	c.1305G>C	c.(1303-1305)tgG>tgC	p.W435C	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	435	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GAGAGTCTGTCCATTCAAAAT	0.473													48	148					0	0	0	0	G	226340106	C	G	226340106	3	3	408	1	0	0	0	0	1	0	0	0	123	856	30	2	289	2	ACBD3	1	226340106	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	230515	226340106	22910515	316	78134											
OBSCN	84033	broad.mit.edu	37	chr1	228400338	228400338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgagggccggcgccacgTggtgtacgaggacgcgcagg	7	3	19	12	7	0	0	0	0	0	0	0	4	0	1	3	5	1	2	3	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228400338T>C	ENST00000570156.2	+	2	928	c.854T>C	c.(853-855)gTg>gCg	p.V285A	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.V285A|OBSCN_ENST00000422127.1_Missense_Mutation_p.V285A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	285	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCGCCACGTGGTGTACGAG	0.672													26	104					0	0	0	0	C	228400338	T	C	228400338	3	2	408	1	0	0	0	0	1	0	0	0	10883	1696	59	5	856	5	OBSCN	1	228400338	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2060232	228400338	20850283	317	78135											
OBSCN	84033	broad.mit.edu	37	chr1	228462511	228462511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccgtggaggctgagggCgcctcatcctctgctgccct	5	9	12	15	2	3	1	2	1	1	0	4	2	4	2	4	3	2	2	4	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228462511C>T	ENST00000570156.2	+	24	7121	c.7047C>T	c.(7045-7047)ggC>ggT	p.G2349G	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.G1974G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.G821G|OBSCN_ENST00000422127.1_Silent_p.G1974G|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1334	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGGGCGCCTCATCCT	0.657													5	17					0	0	0	0	T	228462511	C	T	228462511	2	4	408	1	0	0	0	0	0	0	0	1	10883	755	27	1		1	OBSCN	1	228462511	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	62173	228462511	20788110	318	78136											
OBSCN	84033	broad.mit.edu	37	chr1	228464950	228464950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttaccggtgcgagttcgcGgatcagggagtgtatgtgtg	7	12	16	6	4	1	0	1	0	0	0	2	3	1	2	1	3	2	2	1	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228464950G>A	ENST00000570156.2	+	28	7889	c.7815G>A	c.(7813-7815)gcG>gcA	p.A2605A	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.A2230A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.A1077A|OBSCN_ENST00000422127.1_Silent_p.A2230A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1599	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A2230A(2)|p.A2414A(1)|p.A2513A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAGTTCGCGGATCAGGGAG	0.642													6	22					0	0	0	0	A	228464950	G	A	228464950	2	1	408	1	0	0	0	0	0	0	0	1	10883	1103	39	1		1	OBSCN	1	228464950	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2439	228464950	20785671	319	78137											
OBSCN	84033	broad.mit.edu	37	chr1	228475447	228475447	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggaggtgctggagggTggtgctgccacactgcgctg	5	8	18	10	1	0	0	0	0	0	0	0	3	0	2	2	5	4	3	2	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228475447T>C	ENST00000570156.2	+	41	10958	c.10884T>C	c.(10882-10884)ggT>ggC	p.G3628G	OBSCN_ENST00000366707.4_Silent_p.G318G|OBSCN_ENST00000284548.11_Silent_p.G3199G|OBSCN_ENST00000366709.4_Silent_p.G318G|OBSCN_ENST00000359599.6_Silent_p.G2046G|OBSCN_ENST00000422127.1_Silent_p.G3199G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2661	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGGAGGGTGGTGCTGCCA	0.627													13	52					0	0	0	0	C	228475447	T	C	228475447	2	2	408	1	0	0	0	0	0	0	0	1	10883	1683	59	5		5	OBSCN	1	228475447	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	10497	228475447	20775174	320	78138											
OBSCN	84033	broad.mit.edu	37	chr1	228494170	228494170	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgagcccactgctacAgtggtctggagcaagggtgg	7	9	15	10	0	2	1	0	1	2	0	2	2	2	2	1	4	4	2	1	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228494170A>T	ENST00000570156.2	+	55	14702	c.14628A>T	c.(14626-14628)acA>acT	p.T4876T	OBSCN_ENST00000366707.4_Silent_p.T1553T|OBSCN_ENST00000284548.11_Silent_p.T3919T|OBSCN_ENST00000366709.4_Silent_p.T1038T|OBSCN_ENST00000422127.1_Silent_p.T3919T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3919	IQ.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACTGCTACAGTGGTCTGGA	0.672													5	59					0	0	0	0	T	228494170	A	T	228494170	2	4	408	1	0	0	0	0	0	0	0	1	10883	175	7	5		5	OBSCN	1	228494170	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	18723	228494170	20756451	321	78139											
OBSCN	84033	broad.mit.edu	37	chr1	228495962	228495962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagcaatgaggtgacagAggtggctgtgcgggatggcc	10	6	18	7	1	0	3	0	2	0	1	0	4	0	4	1	5	2	3	1	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228495962A>G	ENST00000570156.2	+	58	15562	c.15488A>G	c.(15487-15489)gAg>gGg	p.E5163G	OBSCN_ENST00000366707.4_Missense_Mutation_p.E1840G|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4206G|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1325G|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4206G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4206	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGACAGAGGTGGCTGTG	0.617													3	52					0	0	0	0	G	228495962	A	G	228495962	3	3	408	1	0	0	0	0	1	0	0	0	10883	304	11	5	12799	5	OBSCN	1	228495962	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1792	228495962	20754659	322	78140											
URB2	9816	broad.mit.edu	37	chr1	229790109	229790109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttttccccatttatggtgGcccagtacgtgttggaggta	6	15	12	8	1	0	0	0	0	0	0	1	1	1	1	3	4	1	4	3	4	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:229790109G>A	ENST00000258243.2	+	9	4487	c.4351G>A	c.(4351-4353)Gcc>Acc	p.A1451T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1451						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTTATGGTGGCCCAGTACGT	0.483													5	87					0	0	0	0	A	229790109	G	A	229790109	3	1	408	1	0	0	0	0	1	0	0	0	17121	1203	42	4	4381	4	URB2	1	229790109	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1294147	229790109	19460512	323	78141											
C1orf198	84886	broad.mit.edu	37	chr1	230979560	230979560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggagccctgggaagctttgGacagtggtctgggctcgctg	5	9	18	9	1	1	0	0	0	1	0	2	3	1	3	1	5	2	3	1	5	1	1	rs150666760	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:230979560G>C	ENST00000366663.5	-	3	607	c.467C>G	c.(466-468)tCc>tGc	p.S156C	C1orf198_ENST00000470540.1_Missense_Mutation_p.S118C|C1orf198_ENST00000523410.1_Missense_Mutation_p.S26C|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	156										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGAAGCTTTGGACAGTGGTCT	0.642													10	287					0	0	0	0	C	230979560	G	C	230979560	3	2	408	1	0	0	0	0	1	0	0	0	2045	1174	41	2	524	2	C1orf198	1	230979560	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1189451	230979560	18271061	324	78142											
FAM89A	375061	broad.mit.edu	37	chr1	231155818	231155818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtactcctgaatcgactCgtagaggctgtacagttggc	8	12	11	10	2	0	2	0	1	0	1	3	3	1	2	1	2	2	5	1	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:231155818C>T	ENST00000366654.4	-	2	380	c.346G>A	c.(346-348)Gag>Aag	p.E116K	FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	116										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGAATCGACTCGTAGAGGCTG	0.547													22	55					0	0	0	0	T	231155818	C	T	231155818	3	4	408	1	0	0	0	0	1	0	0	0	5692	893	31	1	212	1	FAM89A	1	231155818	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	176258	231155818	18094803	325	78143											
TRIM67	440730	broad.mit.edu	37	chr1	231298757	231298757	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtgcggctctctgttTcgggagcctatcatcctgcc	3	12	11	15	3	2	0	1	0	1	0	5	1	3	1	4	2	3	2	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:231298757T>C	ENST00000444294.3	+	1	900	c.42T>C	c.(40-42)ttT>ttC	p.F14F	TRIM67_ENST00000449018.3_Silent_p.F14F|TRIM67_ENST00000366652.2_Silent_p.F14F|TRIM67_ENST00000366653.5_Silent_p.F14F	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	14						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCTCTCTGTTTCGGGAGCCTA	0.667													8	25					0	0	0	0	C	231298757	T	C	231298757	2	2	408	1	0	0	0	0	0	0	0	1	16635	1780	62	5		5	TRIM67	1	231298757	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	142939	231298757	17951864	326	78144											
TRIM67	440730	broad.mit.edu	37	chr1	231337181	231337181	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggagccgaaagtgtcTgcggagtttgatctgacttt	7	12	13	9	2	2	2	0	2	2	0	2	5	2	4	2	2	2	1	2	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:231337181T>C	ENST00000444294.3	+	5	2310	c.1452T>C	c.(1450-1452)tcT>tcC	p.S484S	TRIM67_ENST00000449018.3_Silent_p.S422S|TRIM67_ENST00000366652.2_Silent_p.S484S|TRIM67_ENST00000366653.5_Silent_p.S484S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	484	COS.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGAAAGTGTCTGCGGAGTTTG	0.562													9	26					0	0	0	0	C	231337181	T	C	231337181	2	2	408	1	0	0	0	0	0	0	0	1	16635	1567	55	5		5	TRIM67	1	231337181	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38424	231337181	17913440	327	78145											
C1orf131	128061	broad.mit.edu	37	chr1	231376829	231376829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggagaactgggaggcgtgGaggaccccggcccttgctcc	6	6	16	13	3	0	1	0	0	0	1	2	5	1	4	4	6	2	1	4	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:231376829G>A	ENST00000318906.2	-	1	87	c.59C>T	c.(58-60)tCc>tTc	p.S20F	C1orf131_ENST00000366651.3_Missense_Mutation_p.S20F|C1orf131_ENST00000366649.2_Missense_Mutation_p.S20F|C1orf131_ENST00000471936.1_5'UTR			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	20										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GGGAGGCGTGGAGGACCCCGG	0.627													17	167					0	0	0	0	A	231376829	G	A	231376829	3	1	408	1	0	0	0	0	1	0	0	0	2017	1174	41	2	850	2	C1orf131	1	231376829	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	39648	231376829	17873792	328	78146											
SIPA1L2	57568	broad.mit.edu	37	chr1	232601028	232601028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctcgaaacttttctgatTtatgggctgcattttctgca	7	18	8	8	1	2	1	0	1	2	0	3	2	2	1	0	1	4	4	0	1	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:232601028T>C	ENST00000366630.1	-	8	2736	c.2378A>G	c.(2377-2379)aAa>aGa	p.K793R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	793	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTTCTGATTTATGGGCTGC	0.483													4	170					0	0	0	0	C	232601028	T	C	232601028	3	2	408	1	0	0	0	0	1	0	0	0	14418	1841	64	5	2850	5	SIPA1L2	1	232601028	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1224199	232601028	16649593	329	78147											
SIPA1L2	57568	broad.mit.edu	37	chr1	232601047	232601047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatgggctgcattttctgCattgattactttggctaaaa	9	18	8	6	0	1	1	0	1	1	0	1	1	1	1	0	2	3	4	0	2	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:232601047C>T	ENST00000366630.1	-	8	2717	c.2359G>A	c.(2359-2361)Gca>Aca	p.A787T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A787T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	787	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCATTTTCTGCATTGATTACT	0.468													43	122					0	0	0	0	T	232601047	C	T	232601047	3	4	408	1	0	0	0	0	1	0	0	0	14418	710	25	4	2869	4	SIPA1L2	1	232601047	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	19	232601047	16649574	330	78148											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649899	232649899	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttttcccatcaccctcaTcggcatccaggttctctttg	6	15	5	15	1	3	0	2	0	1	0	7	0	5	0	3	2	1	2	3	2	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:232649899T>A	ENST00000366630.1	-	2	1545	c.1187A>T	c.(1186-1188)gAt>gTt	p.D396V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D396V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	396					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATCACCCTCATCGGCATCCAG	0.552													67	235					0	0	0	0	A	232649899	T	A	232649899	3	1	408	1	0	0	0	0	1	0	0	0	14418	1435	50	5	4065	5	SIPA1L2	1	232649899	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	48852	232649899	16600722	331	78149											
ARID4B	51742	broad.mit.edu	37	chr1	235403679	235403679	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaactaatgtaatctacAcatacaactttgcctagtag	15	12	4	10	0	1	0	0	0	1	0	2	0	2	0	2	0	5	2	2	0	8	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235403679A>G	ENST00000264183.3	-	8	1031	c.534T>C	c.(532-534)tgT>tgC	p.C178C	ARID4B_ENST00000366603.2_Silent_p.C178C|ARID4B_ENST00000349213.3_Silent_p.C178C	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGTAATCTACACATACAACTT	0.368													12	23					0	0	0	0	G	235403679	A	G	235403679	2	3	408	1	0	0	0	0	0	0	0	1	922	157	6	5		5	ARID4B	1	235403679	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2753780	235403679	13846942	332	78150											
TBCE	6905	broad.mit.edu	37	chr1	235600692	235600692	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctacgggctttgtcctgccTaagaaaccccctgaccaaag	10	9	8	14	1	1	2	0	1	1	1	2	2	2	2	5	1	3	1	5	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235600692T>C	ENST00000543662.1	+	13	1278	c.1172T>C	c.(1171-1173)cTa>cCa	p.L391P	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.L340P|TBCE_ENST00000406207.1_Missense_Mutation_p.L340P			Q15813	TBCE_HUMAN	tubulin folding cofactor E	340					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TTGTCCTGCCTAAGAAACCCC	0.473													25	87					0	0	0	0	C	235600692	T	C	235600692	3	2	408	1	0	0	0	0	1	0	0	0	15728	1522	53	5	1061	5	TBCE	1	235600692	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	197013	235600692	13649929	333	78151											
B3GALNT2	148789	broad.mit.edu	37	chr1	235618984	235618984	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacaaattgaagctcgtTgtttccacagtcctgttgac	11	12	8	10	1	0	2	0	2	0	0	3	2	2	2	2	0	3	5	2	0	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235618984T>C	ENST00000366600.3	-	9	1266	c.1038A>G	c.(1036-1038)acA>acG	p.T346T		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	346					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TGAAGCTCGTTGTTTCCACAG	0.403													12	39					0	0	0	0	C	235618984	T	C	235618984	2	2	408	1	0	0	0	0	0	0	0	1	1250	1799	63	5		5	B3GALNT2	1	235618984	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	18292	235618984	13631637	334	78152											
LYST	1130	broad.mit.edu	37	chr1	235866193	235866193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacagctgacggggagTctgcccgtaggtttttatca	8	11	14	8	2	2	1	1	1	1	0	2	3	2	3	1	4	3	3	1	4	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235866193T>C	ENST00000389794.3	-	45	10402	c.10228A>G	c.(10228-10230)Act>Gct	p.T3410A	LYST_ENST00000389793.2_Missense_Mutation_p.T3410A|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3410	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGACGGGGAGTCTGCCCGTAG	0.502													60	220					0	0	0	0	C	235866193	T	C	235866193	3	2	408	1	0	0	0	0	1	0	0	0	9193	1667	58	5	1213	5	LYST	1	235866193	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	247209	235866193	13384428	335	78153											
LYST	1130	broad.mit.edu	37	chr1	235966293	235966293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actaaaagtttaaaactacaAcactgagaatcctcagcttc	17	10	4	10	0	1	1	1	1	0	1	3	2	2	1	1	0	4	2	1	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235966293A>G	ENST00000389794.3	-	8	3801	c.3627T>C	c.(3625-3627)tgT>tgC	p.C1209C	LYST_ENST00000389793.2_Silent_p.C1209C|LYST_ENST00000536965.1_Silent_p.C1209C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1209					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAAAACTACAACACTGAGAAT	0.373													7	40					0	0	0	0	G	235966293	A	G	235966293	2	3	408	1	0	0	0	0	0	0	0	1	9193	41	2	5		5	LYST	1	235966293	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	100100	235966293	13284328	336	78154											
GPR137B	7107	broad.mit.edu	37	chr1	236306300	236306300	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccctgtgtgcctgcagttTttcaccctcacgctgatgaa	6	14	8	13	1	2	2	2	2	0	0	3	2	3	2	3	0	2	3	3	0	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:236306300T>C	ENST00000366592.3	+	1	469	c.378T>C	c.(376-378)ttT>ttC	p.F126F	GPR137B_ENST00000366591.4_Silent_p.F126F	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	126						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GCCTGCAGTTTTTCACCCTCA	0.602													7	177					0	0	0	0	C	236306300	T	C	236306300	2	2	408	1	0	0	0	0	0	0	0	1	6695	1838	64	5		5	GPR137B	1	236306300	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	340007	236306300	12944321	337	78155											
ACTN2	88	broad.mit.edu	37	chr1	236881176	236881176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaccttcactgcctggtgtAactcccacctaaggaaagcc	11	8	8	14	0	1	1	1	0	0	1	2	2	2	2	5	2	3	1	5	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:236881176A>G	ENST00000366578.4	+	2	311	c.145A>G	c.(145-147)Aac>Gac	p.N49D	ACTN2_ENST00000542672.1_Missense_Mutation_p.N49D|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	49	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCCTGGTGTAACTCCCACCT	0.493													14	30					0	0	0	0	G	236881176	A	G	236881176	3	3	408	1	0	0	0	0	1	0	0	0	205	362	13	5	151	5	ACTN2	1	236881176	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	574876	236881176	12369445	338	78156											
MTR	4548	broad.mit.edu	37	chr1	236959026	236959026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacccgcgctccaagaccTgtcgcaacccggtaacgctg	8	6	10	17	5	1	1	1	0	0	1	3	1	2	1	4	1	2	4	4	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:236959026T>C	ENST00000366577.5	+	1	417	c.23T>C	c.(22-24)cTg>cCg	p.L8P	MTR_ENST00000418145.2_Missense_Mutation_p.C136R|MTR_ENST00000535889.1_Missense_Mutation_p.L8P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	8					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTCCAAGACCTGTCGCAACCC	0.627													20	70					0	0	0	0	C	236959026	T	C	236959026	3	2	408	1	0	0	0	0	1	0	0	0	10028	1580	55	5	25	5	MTR	1	236959026	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	77850	236959026	12291595	339	78157											
RYR2	6262	broad.mit.edu	37	chr1	237659870	237659870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcagtataagaaatggtActatgaattgatggtggacc	13	12	11	5	0	1	3	1	2	0	1	1	4	1	4	1	3	2	3	1	3	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:237659870A>G	ENST00000366574.2	+	20	2338	c.2021A>G	c.(2020-2022)tAc>tGc	p.Y674C	RYR2_ENST00000542537.1_Missense_Mutation_p.Y658C|RYR2_ENST00000360064.6_Missense_Mutation_p.Y672C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	674	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAAATGGTACTATGAATTG	0.463													28	61					0	0	0	0	G	237659870	A	G	237659870	3	3	408	1	0	0	0	0	1	0	0	0	13854	391	14	5	2099	5	RYR2	1	237659870	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	700844	237659870	11590751	340	78158											
RYR2	6262	broad.mit.edu	37	chr1	237921019	237921019	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactggaccaatggtagcAgctactctgaaacttggaat	14	9	10	8	0	1	1	0	1	1	0	1	4	1	3	1	3	5	3	1	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:237921019A>G	ENST00000366574.2	+	82	11585	c.11268A>G	c.(11266-11268)gcA>gcG	p.A3756A	RYR2_ENST00000542537.1_Silent_p.A3740A|RYR2_ENST00000360064.6_Silent_p.A3762A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3756					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATGGTAGCAGCTACTCTGA	0.368													16	74					0	0	0	0	G	237921019	A	G	237921019	2	3	408	1	0	0	0	0	0	0	0	1	13854	175	7	5		5	RYR2	1	237921019	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	261149	237921019	11329602	341	78159											
FMN2	56776	broad.mit.edu	37	chr1	240370643	240370643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaaccagccacgaacactCtgtttcctctgcctttaaaa	12	11	4	14	1	3	0	1	0	2	0	4	1	4	0	4	0	4	1	4	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:240370643C>G	ENST00000319653.9	+	5	2761	c.2531C>G	c.(2530-2532)tCt>tGt	p.S844C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	844	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGAACACTCTGTTTCCTCT	0.562													32	113					0	0	0	0	G	240370643	C	G	240370643	3	3	408	1	0	0	0	0	1	0	0	0	5995	913	32	2	2549	2	FMN2	1	240370643	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2449624	240370643	8879978	342	78160											
FMN2	56776	broad.mit.edu	37	chr1	240370980	240370980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggcaataccccctccGccccctcttcccggggcagg	5	5	12	19	3	1	0	0	0	1	0	3	1	3	1	6	5	2	2	6	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:240370980G>A	ENST00000319653.9	+	5	3098	c.2868G>A	c.(2866-2868)ccG>ccA	p.P956P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1099P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTTC	0.697													9	66					0	0	0	0	A	240370980	G	A	240370980	2	1	408	1	0	0	0	0	0	0	0	1	5995	1074	38	1		1	FMN2	1	240370980	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	337	240370980	8879641	343	78161											
FMN2	56776	broad.mit.edu	37	chr1	240371608	240371608	+	Frame_Shift_Del	DEL	C	C	-																															gagcgggcatacccccacctCcccctctacccggagcgggc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:240371608delC	ENST00000319653.9	+	5	3726	c.3496delC	c.(3496-3498)ccfs	p.P1167fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1167	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCACCTCCCCCTCTACC	0.692													9	20	---	---	---	---					-	240371608	C	-	240371608	7	5	408	1	0	1	0	1	0	0	0	0	5995	855	30	0	3514	0	FMN2	1	240371608	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	628	240371608	8879013	344	78162											
GREM2	64388	broad.mit.edu	37	chr1	240656306	240656306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcaggttcacggacatgCaccggcactgcttcaccttc	7	9	9	16	3	3	0	3	0	0	0	4	1	3	1	2	3	2	5	2	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:240656306C>T	ENST00000318160.4	-	2	736	c.470G>A	c.(469-471)tGc>tAc	p.C157Y		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	157	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CACGGACATGCACCGGCACTG	0.711													5	107					0	0	0	0	T	240656306	C	T	240656306	3	4	408	1	0	0	0	0	1	0	0	0	6812	710	25	4	40	4	GREM2	1	240656306	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	284698	240656306	8594315	345	78163											
CEP170	9859	broad.mit.edu	37	chr1	243328085	243328085	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtacatgctcatcagcTgaggtaagtggagtccgtcc	10	10	12	9	1	2	1	2	1	0	0	4	3	4	2	2	2	3	4	2	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:243328085T>C	ENST00000366542.1	-	13	3228	c.3177A>G	c.(3175-3177)tcA>tcG	p.S1059S	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Silent_p.S961S|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Silent_p.S961S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1059	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCTCATCAGCTGAGGTAAGTG	0.418													7	49					0	0	0	0	C	243328085	T	C	243328085	2	2	408	1	0	0	0	0	0	0	0	1	3279	1567	55	5		5	CEP170	1	243328085	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2671779	243328085	5922536	346	78164											
KIF26B	55083	broad.mit.edu	37	chr1	245849150	245849150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaactgcctgctcagtttggGccagagcaggcaagcagagg	10	6	15	10	0	1	2	1	0	0	2	1	3	1	2	2	3	5	5	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:245849150G>A	ENST00000366518.4	+	9	1826	c.1722G>A	c.(1720-1722)ggG>ggA	p.G574G	KIF26B_ENST00000407071.2_Silent_p.G955G			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	955	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTCAGTTTGGGCCAGAGCAGG	0.592													13	42					0	0	0	0	A	245849150	G	A	245849150	2	1	408	1	0	0	0	0	0	0	0	1	8346	1190	42	4		4	KIF26B	1	245849150	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2521065	245849150	3401471	347	78165											
KIF26B	55083	broad.mit.edu	37	chr1	245851965	245851965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttctaccacagcggcGgcagcagcggctacgagagc	8	5	13	15	4	1	1	0	0	1	1	1	2	1	1	2	3	6	4	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:245851965G>A	ENST00000366518.4	+	9	4641	c.4537G>A	c.(4537-4539)Ggc>Agc	p.G1513S	KIF26B_ENST00000407071.2_Missense_Mutation_p.G1894S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1894					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCACAGCGGCGGCAGCAGCGG	0.721													3	23					0	0	0	0	A	245851965	G	A	245851965	3	1	408	1	0	0	0	0	1	0	0	0	8346	1116	39	1	5726	1	KIF26B	1	245851965	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2815	245851965	3398656	348	78166											
CNST	163882	broad.mit.edu	37	chr1	246784753	246784753	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttcaggagatattgcAcctttaatgcaagaaaaagt	14	14	7	6	0	1	2	1	0	0	2	1	3	1	2	1	1	2	2	1	1	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:246784753A>G	ENST00000366513.4	+	3	671	c.402A>G	c.(400-402)gcA>gcG	p.A134A	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.A134A	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	134					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GAGATATTGCACCTTTAATGC	0.373													81	224					0	0	0	0	G	246784753	A	G	246784753	2	3	408	1	0	0	0	0	0	0	0	1	3664	146	6	5		5	CNST	1	246784753	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	932788	246784753	2465868	349	78167											
AHCTF1	25909	broad.mit.edu	37	chr1	247014460	247014460	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagttgctgtgttagctgcTttaggtaacacatcagatga	10	14	10	7	0	2	2	2	1	0	1	2	2	2	2	0	1	4	6	0	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:247014460T>C	ENST00000366508.1	-	33	5089	c.4953A>G	c.(4951-4953)aaA>aaG	p.K1651K	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.K1625K|AHCTF1_ENST00000391829.2_Silent_p.K1616K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1616	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGTTAGCTGCTTTAGGTAACA	0.403													23	81					0	0	0	0	C	247014460	T	C	247014460	2	2	408	1	0	0	0	0	0	0	0	1	408	1606	56	5		5	AHCTF1	1	247014460	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	229707	247014460	2236161	350	78168											
AHCTF1	25909	broad.mit.edu	37	chr1	247025261	247025261	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaattattatcaaacttacCccaggaatccattttgggtg	12	13	6	10	0	1	0	1	0	0	0	2	1	2	1	4	2	2	0	4	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:247025261C>A	ENST00000366508.1	-	28	3976	c.3840_splice	c.e28+1	p.G1280_splice	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Splice_Site_p.G1254_splice|AHCTF1_ENST00000391829.2_Splice_Site_p.G1245_splice			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1245	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCAAACTTACCCCAGGAATCC	0.343													6	39					8.12818e-05	8.26188e-05	1	0	A	247025261	C	A	247025261	5	1	408	1	0	0	0	0	0	0	1	0	408	637	22	4	3101	4	AHCTF1	1	247025261	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	10801	247025261	2225360	351	78169											
OR2W3	343171	broad.mit.edu	37	chr1	248059733	248059733	+	Frame_Shift_Del	DEL	C	C	-																															gctcttctacaacattgtcaCccccctcctcaatcctctca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248059733delC	ENST00000537741.1	+	3	1102	c.845delC	c.(844-846)acfs	p.T282fs	OR2W3_ENST00000360358.3_Frame_Shift_Del_p.T282fs			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L284fs*14(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACATTGTCACCCCCCTCCTC	0.507													23	80	---	---	---	---					-	248059733	C	-	248059733	7	5	408	1	0	1	0	1	0	0	0	0	11104	507	18	0	847	0	OR2W3	1	248059733	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	1034472	248059733	1190888	352	78170											
OR2M5	127059	broad.mit.edu	37	chr1	248308700	248308700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtacccaagatggccttcaActacttgtctggcagcaagt	10	10	9	12	1	2	1	1	0	1	1	2	1	2	1	2	2	4	3	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248308700A>G	ENST00000366476.1	+	1	251	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGGCCTTCAACTACTTGTCT	0.498													10	413					0	0	0	0	G	248308700	A	G	248308700	3	3	408	1	0	0	0	0	1	0	0	0	11084	43	2	5	253	5	OR2M5	1	248308700	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	248967	248308700	941921	353	78171											
OR2M4	26245	broad.mit.edu	37	chr1	248403002	248403002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacggtgctgctatgttcAtgtacatgagaccagcttct	9	13	9	10	1	2	1	1	1	1	1	2	2	2	1	1	1	5	5	1	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248403002A>G	ENST00000306687.1	+	1	772	c.772A>G	c.(772-774)Atg>Gtg	p.M258V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCTATGTTCATGTACATGAG	0.522													20	73					0	0	0	0	G	248403002	A	G	248403002	3	3	408	1	0	0	0	0	1	0	0	0	11083	217	8	5	774	5	OR2M4	1	248403002	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	94302	248403002	847619	354	78172											
OR2T12	127064	broad.mit.edu	37	chr1	248458064	248458064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatagtatagaaggctgAcacaaccttatcgtggttag	14	10	10	7	1	0	2	0	1	0	1	1	3	0	2	1	2	2	3	1	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248458064A>G	ENST00000317996.1	-	1	816	c.817T>C	c.(817-819)Tca>Cca	p.S273P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAGAAGGCTGACACAACCTTA	0.488													33	150					0	0	0	0	G	248458064	A	G	248458064	3	3	408	1	0	0	0	0	1	0	0	0	11090	275	10	5	148	5	OR2T12	1	248458064	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	55062	248458064	792557	355	78173											
OR2T6	254879	broad.mit.edu	37	chr1	248551319	248551319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctatcctgtcctcatcaGctggcgggtctgctggatga	5	11	13	12	2	3	1	2	1	1	0	5	2	5	2	2	3	2	3	2	3	1	1	rs2226010		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248551319G>A	ENST00000355728.2	+	1	410	c.410G>A	c.(409-411)aGc>aAc	p.S137N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCCTCATCAGCTGGCGGGTC	0.577													19	64					0	0	0	0	A	248551319	G	A	248551319	3	1	408	1	0	0	0	0	1	0	0	0	11100	971	34	4	412	4	OR2T6	1	248551319	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	93255	248551319	699302	356	78174											
OR2T1	26696	broad.mit.edu	37	chr1	248570264	248570264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagccagcccaggacaaagtCctctctgtgttttacaccat	11	10	7	13	0	1	0	0	0	1	0	3	1	2	1	4	1	3	1	4	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248570264C>T	ENST00000366474.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACAAAGTCCTCTCTGTGT	0.522													37	132					0	0	0	0	T	248570264	C	T	248570264	2	4	408	1	0	0	0	0	0	0	0	1	11087	842	30	2		2	OR2T1	1	248570264	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	18945	248570264	680357	357	78175											
OR2T2	401992	broad.mit.edu	37	chr1	248616454	248616454	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcctgctgggtctcaTggcctatgaccgctatgtgg	5	14	11	11	1	2	1	1	1	2	0	4	1	3	1	3	3	1	2	3	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248616454T>C	ENST00000342927.3	+	1	378	c.356T>C	c.(355-357)aTg>aCg	p.M119T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGGGTCTCATGGCCTATGAC	0.547													8	211					0	0	0	0	C	248616454	T	C	248616454	3	2	408	1	0	0	0	0	1	0	0	0	11091	1464	51	5	358	5	OR2T2	1	248616454	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	46190	248616454	634167	358	78176											
OR2G6	391211	broad.mit.edu	37	chr1	248685673	248685673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctttgggacctgttcGtctcacctggttgtggtcat	5	14	12	10	1	2	0	2	0	1	0	4	1	2	1	3	4	0	2	3	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248685673G>A	ENST00000343414.4	+	1	758	c.726G>A	c.(724-726)tcG>tcA	p.S242S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACCTGTTCGTCTCACCTGG	0.463													5	107					0	0	0	0	A	248685673	G	A	248685673	2	1	408	1	0	0	0	0	0	0	0	1	11071	1132	40	1		1	OR2G6	1	248685673	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	69219	248685673	564948	359	78177											
OR2T10	127069	broad.mit.edu	37	chr1	248756211	248756211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgaaactgtaaatgatagGattcaagacaggtgtaagga	16	9	11	5	0	1	3	1	2	0	1	1	5	1	5	1	3	1	2	1	3	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248756211G>A	ENST00000330500.2	-	1	889	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAATGATAGGATTCAAGACA	0.388													13	43					0	0	0	0	A	248756211	G	A	248756211	3	1	408	1	0	0	0	0	1	0	0	0	11088	1174	41	2	82	2	OR2T10	1	248756211	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	70538	248756211	494410	360	78178											
SH3BP5L	80851	broad.mit.edu	37	chr1	249106318	249106318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggcggggccgggccccagGctgctgccctcctccagccc	2	4	16	19	2	0	0	0	0	0	0	2	0	2	0	7	6	3	2	7	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:249106318G>A	ENST00000366472.5	-	7	2192	c.963C>T	c.(961-963)agC>agT	p.S321S	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.S289S	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	321										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGGGCCCCAGGCTGCTGCCCT	0.716													4	52					0	0	0	0	A	249106318	G	A	249106318	2	1	408	1	0	0	0	0	0	0	0	1	14335	1194	42	4		4	SH3BP5L	1	249106318	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	350107	249106318	144303	361	78179											
PXDN	7837	broad.mit.edu	37	chr2	1652934	1652934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgaagaacatgcagcggGccccgctcctggcccgggag	8	3	15	15	4	0	1	0	0	0	1	1	3	1	2	4	3	3	3	4	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:1652934G>A	ENST00000252804.4	-	17	2668	c.2618C>T	c.(2617-2619)gCc>gTc	p.A873V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	873					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CATGCAGCGGGCCCCGCTCCT	0.647													11	30					0	0	0	0	A	1652934	G	A	1652934	3	1	408	1	0	0	0	0	1	0	0	0	12929	1203	42	4	1849	4	PXDN	2	1652934	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08		1652934	241546439	362	78180											
MYT1L	23040	broad.mit.edu	37	chr2	1796224	1796224	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggtcttcaggttgctctCcatcgtggtaatctgaaacg	8	13	11	9	2	4	1	1	1	3	0	6	2	4	1	1	3	2	3	1	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:1796224C>A	ENST00000399161.2	-	24	4036	c.3289G>T	c.(3289-3291)Gag>Tag	p.E1097*	MYT1L_ENST00000407844.1_Nonsense_Mutation_p.E95*|MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E1095*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1097					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGGTTGCTCTCCATCGTGGTA	0.562													5	51					0.0381472	0.0383256	1	0	A	1796224	C	A	1796224	4	1	408	1	0	0	0	0	0	1	0	0	10177	864	30	2	279	2	MYT1L	2	1796224	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	143290	1796224	241403149	363	78181											
MYT1L	23040	broad.mit.edu	37	chr2	1893175	1893175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggggtcaggatggggcaGcagctgtcccgcggcctctg	6	6	18	11	2	2	1	1	0	1	1	3	2	3	2	2	6	2	3	2	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:1893175G>A	ENST00000399161.2	-	16	3105	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	MYT1L_ENST00000428368.2_Silent_p.C784C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	786					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGATGGGGCAGCAGCTGTCCC	0.612													26	82					0	0	0	0	A	1893175	G	A	1893175	2	1	408	1	0	0	0	0	0	0	0	1	10177	963	34	4		4	MYT1L	2	1893175	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	96951	1893175	241306198	364	78182											
MYT1L	23040	broad.mit.edu	37	chr2	1926967	1926967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtaattgtcatattcgtCattattgttatcatcctttt	9	21	4	7	2	3	0	3	0	0	0	6	0	4	0	1	0	0	2	1	0	4	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:1926967C>T	ENST00000399161.2	-	10	1321	c.574G>A	c.(574-576)Gac>Aac	p.D192N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D192N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	192					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCATATTCGTCATTATTGTTA	0.383													6	19					0	0	0	0	T	1926967	C	T	1926967	3	4	408	1	0	0	0	0	1	0	0	0	10177	826	29	2	3044	2	MYT1L	2	1926967	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	33792	1926967	241272406	365	78183											
ADI1	55256	broad.mit.edu	37	chr2	3502803	3502803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcagcgggccggttgtaCgctgtccacaccggttctcc	4	10	13	14	4	2	0	1	0	1	0	4	0	3	0	4	4	2	4	4	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:3502803C>T	ENST00000382093.5	-	4	3290	c.453G>A	c.(451-453)gcG>gcA	p.A151A	ADI1_ENST00000327435.6_Silent_p.A157A			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	157					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GCCGGTTGTACGCTGTCCACA	0.567													19	50					0	0	0	0	T	3502803	C	T	3502803	2	4	408	1	0	0	0	0	0	0	0	1	315	523	19	1		1	ADI1	2	3502803	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1575836	3502803	239696570	366	78184											
ALLC	55821	broad.mit.edu	37	chr2	3750034	3750034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgccaggctcaccatcGtccccgacgggggagtgagc	7	5	13	16	4	2	1	2	1	0	0	4	3	3	2	4	3	1	1	4	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:3750034G>A	ENST00000252505.3	+	12	1219	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	372							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GCTCACCATCGTCCCCGACGG	0.597										HNSCC(21;0.051)			12	33					0	0	0	0	A	3750034	G	A	3750034	3	1	408	1	0	0	0	0	1	0	0	0	534	1145	40	1	1099	1	ALLC	2	3750034	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	247231	3750034	239449339	367	78185											
ASAP2	8853	broad.mit.edu	37	chr2	9347300	9347300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggactacaaggcgcccacgGcctccagcttcaccacccgc	9	4	9	19	3	1	0	1	0	0	0	2	1	2	1	5	3	2	1	5	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9347300G>A	ENST00000281419.3	+	1	407	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A23T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	23					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGCGCCCACGGCCTCCAGCTT	0.716													14	32					0	0	0	0	A	9347300	G	A	9347300	3	1	408	1	0	0	0	0	1	0	0	0	1015	1203	42	4	69	4	ASAP2	2	9347300	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5597266	9347300	233852073	368	78186											
ASAP2	8853	broad.mit.edu	37	chr2	9528450	9528450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaccggcgggaagaccggCccatcagcttctaccagctg	9	5	11	16	3	2	1	1	0	1	1	2	2	2	2	5	3	4	2	5	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9528450C>T	ENST00000281419.3	+	22	2498	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	ASAP2_ENST00000315273.4_Missense_Mutation_p.P720S|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	720					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGAAGACCGGCCCATCAGCTT	0.547													27	73					0	0	0	0	T	9528450	C	T	9528450	3	4	408	1	0	0	0	0	1	0	0	0	1015	739	26	4	2244	4	ASAP2	2	9528450	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	181150	9528450	233670923	369	78187											
ASAP2	8853	broad.mit.edu	37	chr2	9528643	9528643	+	Frame_Shift_Del	DEL	C	C	-																															agcccccagcaccaccagcgCccccccgcttcctccacgga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9528643delC	ENST00000281419.3	+	22	2691	c.2351delC	c.(2350-2352)gcfs	p.A784fs	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Frame_Shift_Del_p.A784fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	784	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACCACCAGCGCCCCCCCGCTT	0.577													22	56	---	---	---	---					-	9528643	C	-	9528643	7	5	408	1	0	1	0	1	0	0	0	0	1015	739	26	0	2437	0	ASAP2	2	9528643	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	193	9528643	233670730	370	78188											
CPSF3	51692	broad.mit.edu	37	chr2	9576380	9576380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccatgagaaacgtgaagAgcgagaagcaagattctgta	16	8	11	6	2	1	5	0	2	1	4	2	7	2	5	1	0	3	2	1	0	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9576380A>G	ENST00000460593.1	+	7	1677	c.539A>G	c.(538-540)gAg>gGg	p.E180G	CPSF3_ENST00000238112.3_Missense_Mutation_p.E217G			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	217					histone mRNA 3'-end processing|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|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAACGTGAAGAGCGAGAAGCA	0.433													35	94					0	0	0	0	G	9576380	A	G	9576380	3	3	408	1	0	0	0	0	1	0	0	0	3856	304	11	5	676	5	CPSF3	2	9576380	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	47737	9576380	233622993	371	78189											
CPSF3	51692	broad.mit.edu	37	chr2	9582061	9582061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtactgataagaggaatGgtgtcattatagcgggatac	12	11	14	4	1	1	2	1	1	0	1	1	4	1	4	0	4	3	1	0	4	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9582061G>A	ENST00000460593.1	+	9	2078	c.940G>A	c.(940-942)Ggt>Agt	p.G314S	CPSF3_ENST00000238112.3_Missense_Mutation_p.G351S			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	351					histone mRNA 3'-end processing|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|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TAAGAGGAATGGTGTCATTAT	0.453													63	153					0	0	0	0	A	9582061	G	A	9582061	3	1	408	1	0	0	0	0	1	0	0	0	3856	1348	47	4	1085	4	CPSF3	2	9582061	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5681	9582061	233617312	372	78190											
ROCK2	9475	broad.mit.edu	37	chr2	11354567	11354567	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttgccgttctttaaatcTtcttctaggccacatattct	8	19	4	10	1	5	0	0	0	5	0	5	0	5	0	2	1	1	1	2	1	4	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:11354567T>C	ENST00000315872.6	-	17	2407	c.1959A>G	c.(1957-1959)gaA>gaG	p.E653E	ROCK2_ENST00000401753.1_Silent_p.E410E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	653	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTAAATCTTCTTCTAGGC	0.313													13	41					0	0	0	0	C	11354567	T	C	11354567	2	2	408	1	0	0	0	0	0	0	0	1	13603	1606	56	5		5	ROCK2	2	11354567	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1772506	11354567	231844806	373	78191											
NBAS	51594	broad.mit.edu	37	chr2	15696932	15696932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatgtattggcgtaaaaAtaataaacgatctgtaatca	17	11	7	6	2	2	1	1	0	1	1	2	2	2	1	1	1	1	3	1	1	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:15696932A>G	ENST00000281513.5	-	3	209	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L	NBAS_ENST00000441750.1_Missense_Mutation_p.F62L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	62										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGGCGTAAAAATAATAAACGA	0.274													14	55					0	0	0	0	G	15696932	A	G	15696932	3	3	408	1	0	0	0	0	1	0	0	0	10256	101	4	5	7131	5	NBAS	2	15696932	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4342365	15696932	227502441	374	78192											
MYCN	4613	broad.mit.edu	37	chr2	16082735	16082735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagctcgcccacccggcCgccgagtgcgtggatcccgc	4	4	14	19	7	0	0	0	0	0	0	2	3	1	1	6	2	2	1	6	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:16082735C>T	ENST00000281043.3	+	2	846	c.549C>T	c.(547-549)gcC>gcT	p.A183A		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	183					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCACCCGGCCGCCGAGTGCG	0.831			A		neuroblastoma								4	3					0	0	0	0	T	16082735	C	T	16082735	2	4	408	1	0	0	0	0	0	0	0	1	10091	639	23	1		1	MYCN	2	16082735	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	385803	16082735	227116638	375	78193											
NT5C1B	93034	broad.mit.edu	37	chr2	18765359	18765359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgcagaataccttgaCgaagcggaacgccgggcccg	10	5	13	13	5	0	2	0	1	0	1	0	4	0	3	3	2	5	2	3	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:18765359C>T	ENST00000304081.4	-	5	986	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.V356I|NT5C1B_ENST00000600945.1_Missense_Mutation_p.V356I|NT5C1B_ENST00000359846.2_Missense_Mutation_p.V356I	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AATACCTTGACGAAGCGGAAC	0.572													30	107					0	0	0	0	T	18765359	C	T	18765359	3	4	408	1	0	0	0	0	1	0	0	0	10757	536	19	1	786	1	NT5C1B	2	18765359	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2682624	18765359	224434014	376	78194											
PUM2	23369	broad.mit.edu	37	chr2	20497357	20497357	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgctgcagtatacggAtcggtccctggaggagcagc	9	8	13	11	2	0	0	0	0	0	0	3	3	2	3	2	4	5	4	2	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:20497357A>G	ENST00000361078.2	-	7	988	c.966T>C	c.(964-966)gaT>gaC	p.D322D	PUM2_ENST00000319801.5_Silent_p.D322D|PUM2_ENST00000403432.1_Silent_p.D322D|PUM2_ENST00000536417.1_Silent_p.D266D|PUM2_ENST00000338086.5_Silent_p.D322D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	322	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTATACGGATCGGTCCCTG	0.418													9	27					0	0	0	0	G	20497357	A	G	20497357	2	3	408	1	0	0	0	0	0	0	0	1	12908	330	12	5		5	PUM2	2	20497357	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1731998	20497357	222702016	377	78195											
APOB	338	broad.mit.edu	37	chr2	21242616	21242616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgtccccggtcagcggaTagtaggaggcggagtctgtg	6	9	18	8	3	2	0	1	0	1	0	3	3	3	3	2	6	1	1	2	6	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:21242616T>C	ENST00000233242.1	-	19	3105	c.2978A>G	c.(2977-2979)tAt>tGt	p.Y993C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	993					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTCAGCGGATAGTAGGAGGC	0.542													10	35					0	0	0	0	C	21242616	T	C	21242616	3	2	408	1	0	0	0	0	1	0	0	0	787	1406	49	5	10757	5	APOB	2	21242616	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	745259	21242616	221956757	378	78196											
ATAD2B	54454	broad.mit.edu	37	chr2	24021108	24021108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagaaaagttgctctcAcagtttcactgacagcttcc	11	12	7	11	0	3	2	3	1	1	1	5	2	4	2	1	0	2	4	1	0	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:24021108A>G	ENST00000238789.5	-	19	2883	c.2540T>C	c.(2539-2541)gTg>gCg	p.V847A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	847							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTGCTCTCACAGTTTCACT	0.383													10	22					0	0	0	0	G	24021108	A	G	24021108	3	3	408	1	0	0	0	0	1	0	0	0	1076	159	6	5	1876	5	ATAD2B	2	24021108	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2778492	24021108	219178265	379	78197											
MFSD2B	388931	broad.mit.edu	37	chr2	24247074	24247074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccttgctgggctctgcAtcctcatggtcggctccact	4	13	10	14	1	2	1	1	1	1	0	6	1	5	1	3	3	2	4	3	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:24247074A>G	ENST00000338315.4	+	13	1423	c.1423A>G	c.(1423-1425)Atc>Gtc	p.I475V	MFSD2B_ENST00000406420.3_Missense_Mutation_p.I475V			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	475					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGGGCTCTGCATCCTCATGGT	0.642													6	33					0	0	0	0	G	24247074	A	G	24247074	3	3	408	1	0	0	0	0	1	0	0	0	9600	217	8	5	1473	5	MFSD2B	2	24247074	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	225966	24247074	218952299	380	78198											
ITSN2	50618	broad.mit.edu	37	chr2	24428137	24428137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacatgcaccatcaggcGcccaatgcctgaagtctttt	11	10	8	12	1	2	2	1	2	1	0	2	2	2	2	3	1	2	1	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:24428137G>A	ENST00000355123.4	-	38	5151	c.4708C>T	c.(4708-4710)Cgc>Tgc	p.R1570C	ITSN2_ENST00000361999.3_Missense_Mutation_p.R1543C	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1570	C2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCATCAGGCGCCCAATGCCT	0.463													30	70					0	0	0	0	A	24428137	G	A	24428137	3	1	408	1	0	0	0	0	1	0	0	0	7980	1087	38	1	397	1	ITSN2	2	24428137	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	181063	24428137	218771236	381	78199											
NCOA1	8648	broad.mit.edu	37	chr2	24933863	24933863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagaaggcagcacagttgCcaggcttatgtgagacagac	12	7	14	8	0	0	3	0	1	0	3	0	5	0	3	1	3	2	4	1	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:24933863C>T	ENST00000405141.1	+	15	3193	c.2482C>T	c.(2482-2484)Cca>Tca	p.P828S	NCOA1_ENST00000538539.1_Missense_Mutation_p.P828S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P828S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P828S|NCOA1_ENST00000406961.1_Missense_Mutation_p.P828S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P828S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P677S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	828	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCACAGTTGCCAGGCTTATG	0.488			T	PAX3	alveolar rhadomyosarcoma								4	81					0	0	0	0	T	24933863	C	T	24933863	3	4	408	1	0	0	0	0	1	0	0	0	10298	739	26	4	2520	4	NCOA1	2	24933863	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	505726	24933863	218265510	382	78200											
POMC	5443	broad.mit.edu	37	chr2	25384061	25384061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagcgcttgtccttgggCgggctgccccagcggaagtg	4	8	16	13	4	0	0	0	0	0	0	1	1	1	1	4	3	3	3	4	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:25384061C>T	ENST00000405623.1	-	3	1148	c.693G>A	c.(691-693)ccG>ccA	p.P231P	POMC_ENST00000264708.3_Silent_p.P231P|POMC_ENST00000380794.1_Silent_p.P231P|POMC_ENST00000395826.2_Silent_p.P231P			P01189	COLI_HUMAN	proopiomelanocortin	231					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	p.P231P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TGTCCTTGGGCGGGCTGCCCC	0.642													6	34					0	0	0	0	T	25384061	C	T	25384061	2	4	408	1	0	0	0	0	0	0	0	1	12314	755	27	1		1	POMC	2	25384061	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	450198	25384061	217815312	383	78201											
ASXL2	55252	broad.mit.edu	37	chr2	25967275	25967275	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggactagtgatggagActggaaaacgagccctggga	12	8	15	6	1	0	2	0	1	0	1	0	7	0	5	1	4	2	1	1	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:25967275A>G	ENST00000435504.4	-	13	2224	c.1931T>C	c.(1930-1932)gTc>gCc	p.V644A	ASXL2_ENST00000272341.4_Missense_Mutation_p.V384A|ASXL2_ENST00000404843.1_Missense_Mutation_p.V384A|ASXL2_ENST00000336112.4_Missense_Mutation_p.V616A			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGATGGAGACTGGAAAACG	0.527													23	61					0	0	0	0	G	25967275	A	G	25967275	3	3	408	1	0	0	0	0	1	0	0	0	1071	275	10	5	2380	5	ASXL2	2	25967275	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	583214	25967275	217232098	384	78202											
RAB10	10890	broad.mit.edu	37	chr2	26357811	26357811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtttgttgcagacccCtgtaaaagagcccaacagtg	10	11	11	9	0	0	2	0	0	0	2	0	2	0	2	3	0	3	4	3	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:26357811C>A	ENST00000264710.4	+	6	1023	c.524C>A	c.(523-525)cCt>cAt	p.P175H	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	175					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCAGACCCCTGTAAAAGAG	0.413													10	35					3.86212e-05	3.93362e-05	1	0	A	26357811	C	A	26357811	3	1	408	1	0	0	0	0	1	0	0	0	12972	681	24	4	546	4	RAB10	2	26357811	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	390536	26357811	216841562	385	78203											
GPR113	165082	broad.mit.edu	37	chr2	26534142	26534142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtgtctgcggccagcaaGcagaacaccatgttgagcag	12	6	12	11	1	1	2	0	1	1	1	1	2	1	2	2	1	5	4	2	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:26534142G>A	ENST00000333478.6	-	8	2439	c.1857C>T	c.(1855-1857)tgC>tgT	p.C619C	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.C749C|GPR113_ENST00000541401.1_Silent_p.C421C|GPR113_ENST00000311519.1_Silent_p.C818C	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	818					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCCAGCAAGCAGAACACCA	0.612													8	32					0	0	0	0	A	26534142	G	A	26534142	2	1	408	1	0	0	0	0	0	0	0	1	6679	963	34	4		4	GPR113	2	26534142	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	176331	26534142	216665231	386	78204											
EMILIN1	11117	broad.mit.edu	37	chr2	27303108	27303108	+	Frame_Shift_Del	DEL	G	G	-																															caagtaccagccttgtgcctGgggccagccccagtgtcccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27303108delG	ENST00000380320.4	+	2	759	c.260delG	c.(259-261)tgfs	p.W87fs		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	87	EMI.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGTGCCTGGGGCCAGCCC	0.612													57	175	---	---	---	---					-	27303108	G	-	27303108	7	5	408	1	0	1	0	1	0	0	0	0	5131	1357	47	0	266	0	EMILIN1	2	27303108	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	768966	27303108	215896265	387	78205											
KHK	3795	broad.mit.edu	37	chr2	27322364	27322364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaattgctccactcggatGctttcccgccaccccgcgtg	6	9	9	17	4	0	0	0	0	0	0	3	1	2	1	5	1	2	3	5	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27322364G>A	ENST00000260599.6	+	7	1243	c.730G>A	c.(730-732)Gct>Act	p.A244T	KHK_ENST00000490823.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|CGREF1_ENST00000402550.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A244T	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	244					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTCGGATGCTTTCCCGCC	0.632													34	93					0	0	0	0	A	27322364	G	A	27322364	3	1	408	1	0	0	0	0	1	0	0	0	8200	1319	46	4	895	4	KHK	2	27322364	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	19256	27322364	215877009	388	78206											
ABHD1	84696	broad.mit.edu	37	chr2	27351946	27351946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatcactggcagtagccagGatacatacgtcttgcaccta	11	9	9	12	1	2	0	1	0	1	0	2	1	2	1	2	2	4	4	2	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27351946G>T	ENST00000316470.4	+	3	523	c.409G>T	c.(409-411)Gat>Tat	p.D137Y		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	137			D -> E (in dbSNP:rs6715286).			integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTAGCCAGGATACATACGT	0.557													31	94					3.69857e-22	3.90823e-22	1	0	T	27351946	G	T	27351946	3	4	408	1	0	0	0	0	1	0	0	0	73	1174	41	2	419	2	ABHD1	2	27351946	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	29582	27351946	215847427	389	78207											
DNAJC5G	285126	broad.mit.edu	37	chr2	27500629	27500629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccttccccagccattccGcattgcttccccaccctcct	4	12	3	22	1	1	0	0	0	1	0	6	0	5	0	9	0	2	2	9	0	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27500629G>A	ENST00000296097.3	+	4	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000406962.1_Intron	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	41	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATTCCGCATTGCTTCC	0.498													37	129					0	0	0	0	A	27500629	G	A	27500629	3	1	408	1	0	0	0	0	1	0	0	0	4688	1087	38	1	127	1	DNAJC5G	2	27500629	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	148683	27500629	215698744	390	78208											
TRIM54	57159	broad.mit.edu	37	chr2	27528642	27528642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctaagctggtggagtctgCcatccagtccatggaagagc	9	9	12	11	0	2	1	0	0	2	1	4	3	4	3	3	3	3	1	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27528642C>T	ENST00000296098.4	+	6	1196	c.926C>T	c.(925-927)gCc>gTc	p.A309V	TRIM54_ENST00000380075.2_Missense_Mutation_p.A267V	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	267	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGAGTCTGCCATCCAGTCC	0.642													7	13					0	0	0	0	T	27528642	C	T	27528642	3	4	408	1	0	0	0	0	1	0	0	0	16623	739	26	4	948	4	TRIM54	2	27528642	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	28013	27528642	215670731	391	78209											
C2orf16	84226	broad.mit.edu	37	chr2	27800372	27800372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagagatccccaaggctCtgtcctcaaaacttagaatg	13	8	9	11	0	2	3	1	0	1	3	4	4	4	3	3	1	1	2	3	1	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27800372C>T	ENST00000408964.2	+	1	984	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	311										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCCAAGGCTCTGTCCTCAAA	0.463													33	96					0	0	0	0	T	27800372	C	T	27800372	2	4	408	1	0	0	0	0	0	0	0	1	2177	900	32	2		2	C2orf16	2	27800372	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	271730	27800372	215399001	392	78210											
C2orf16	84226	broad.mit.edu	37	chr2	27800482	27800482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacgtcccagattctgcttCagggatgacacctgggttag	8	11	11	11	1	3	2	2	1	1	1	4	3	4	3	2	2	1	2	2	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27800482C>T	ENST00000408964.2	+	1	1094	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	348										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GATTCTGCTTCAGGGATGACA	0.443													25	83					0	0	0	0	T	27800482	C	T	27800482	3	4	408	1	0	0	0	0	1	0	0	0	2177	838	29	2	1045	2	C2orf16	2	27800482	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	110	27800482	215398891	393	78211											
PLB1	151056	broad.mit.edu	37	chr2	28763274	28763274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcagaggagaccacccGgctggccaaggtggtgatgc	8	7	15	11	1	1	3	1	1	0	2	1	4	1	3	3	5	2	2	3	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:28763274G>A	ENST00000422425.2	+	12	817	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	PLB1_ENST00000327757.5_Missense_Mutation_p.R247Q	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	247	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGACCACCCGGCTGGCCAAG	0.612													9	39					0	0	0	0	A	28763274	G	A	28763274	3	1	408	1	0	0	0	0	1	0	0	0	12096	1116	39	1	819	1	PLB1	2	28763274	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	962792	28763274	214436099	394	78212											
FAM179A	165186	broad.mit.edu	37	chr2	29258406	29258406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagatggtggagcagctaCgggagctgacacggctgctg	8	6	19	8	2	0	2	0	1	0	1	0	5	0	4	0	5	5	5	0	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:29258406C>T	ENST00000379558.4	+	17	2653	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W	FAM179A_ENST00000403861.2_Missense_Mutation_p.R713W|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	768							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGCAGCTACGGGAGCTGAC	0.662													5	8					0	0	0	0	T	29258406	C	T	29258406	3	4	408	1	0	0	0	0	1	0	0	0	5546	527	19	1	2364	1	FAM179A	2	29258406	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	495132	29258406	213940967	395	78213											
C2orf71	388939	broad.mit.edu	37	chr2	29294162	29294162	+	Frame_Shift_Del	DEL	G	G	-																															gagaggcctttctgcccacaGgggggcttctctctcggctc																								rs113376827		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:29294162delG	ENST00000331664.5	-	1	2965	c.2966delC	c.(2965-2967)ctfs	p.P989fs		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	989					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCTGCCCACAGGGGGGCTTCT	0.637													30	58	---	---	---	---					-	29294162	G	-	29294162	7	5	408	1	0	1	0	1	0	0	0	0	2211	1000	35	0	908	0	C2orf71	2	29294162	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	35756	29294162	213905211	396	78214											
ALK	238	broad.mit.edu	37	chr2	29443576	29443576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggttctcactcaccgggCgagggcgggtctctcggagg	5	8	16	12	4	3	0	2	0	2	0	6	2	3	1	1	6	0	1	1	6	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:29443576C>T	ENST00000389048.3	-	23	4547	c.3641G>A	c.(3640-3642)cGc>cAc	p.R1214H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1214	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACTCACCGGGCGAGGGCGGGT	0.617			"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				11	44					0	0	0	0	T	29443576	C	T	29443576	3	4	408	1	0	0	0	0	1	0	0	0	525	768	27	1	1249	1	ALK	2	29443576	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	149414	29443576	213755797	397	78215											
EHD3	30845	broad.mit.edu	37	chr2	31489200	31489200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagatggtgaagggcggagCgttcgagggcaccctgcacg	8	5	17	11	4	0	2	0	1	0	1	1	4	0	3	2	4	2	3	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:31489200C>T	ENST00000322054.5	+	6	1523	c.1238C>T	c.(1237-1239)gCg>gTg	p.A413V	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	413					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAGGGCGGAGCGTTCGAGGGC	0.637													16	45					0	0	0	0	T	31489200	C	T	31489200	3	4	408	1	0	0	0	0	1	0	0	0	5015	768	27	1	1260	1	EHD3	2	31489200	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2045624	31489200	211710173	398	78216											
MEMO1	51072	broad.mit.edu	37	chr2	32108519	32108519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatcatagtaactgtaaCggaacctttgaccttgaaac	14	12	6	9	1	2	2	2	2	0	0	2	3	2	3	2	1	4	2	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:32108519C>T	ENST00000295065.4	-	7	902	c.593G>A	c.(592-594)cGt>cAt	p.R198H	MEMO1_ENST00000379383.3_Missense_Mutation_p.R201H|MEMO1_ENST00000426310.2_Missense_Mutation_p.R175H|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.R198H|MEMO1_ENST00000490459.1_Intron	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	198					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GTAACTGTAACGGAACCTTTG	0.338													63	209					0	0	0	0	T	32108519	C	T	32108519	3	4	408	1	0	0	0	0	1	0	0	0	9540	536	19	1	312	1	MEMO1	2	32108519	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	619319	32108519	211090854	399	78217											
SLC30A6	55676	broad.mit.edu	37	chr2	32400414	32400414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctatacttacctgaccAtttttgatctttttaggtaa	9	18	5	9	0	1	2	0	2	1	0	1	2	1	2	3	1	3	1	3	1	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:32400414A>G	ENST00000282587.5	+	4	239	c.202A>G	c.(202-204)Att>Gtt	p.I68V	SLC30A6_ENST00000538303.1_Missense_Mutation_p.I39V|SLC30A6_ENST00000379343.2_Missense_Mutation_p.I68V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.I68V|SLC30A6_ENST00000357055.3_Intron|SLC30A6_ENST00000406369.1_Intron	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	68						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTACCTGACCATTTTTGATCT	0.299													17	18					0	0	0	0	G	32400414	A	G	32400414	3	3	408	1	0	0	0	0	1	0	0	0	14647	217	8	5	216	5	SLC30A6	2	32400414	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	291895	32400414	210798959	400	78218											
BIRC6	57448	broad.mit.edu	37	chr2	32640742	32640742	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctgtagtgaatggtgcaAatattagtgtaatccaacat	13	14	9	5	0	0	1	0	1	0	0	1	1	1	1	1	1	3	4	1	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:32640742A>C	ENST00000421745.2	+	10	2517	c.2383A>C	c.(2383-2385)Aat>Cat	p.N795H		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	795					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)					GAATGGTGCAAATATTAGTGT	0.363													58	70					0	0	0	0	C	32640742	A	C	32640742	3	2	408	1	0	0	0	0	1	0	0	0	1443	14	1	5	2421	5	BIRC6	2	32640742	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	240328	32640742	210558631	401	78219											
BIRC6	57448	broad.mit.edu	37	chr2	32750697	32750697	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcacaaactcttggcaggTaatattcctcaatgaataaa	15	13	5	8	0	3	1	2	1	1	0	4	1	4	1	1	2	1	2	1	2	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:32750697T>C	ENST00000421745.2	+	59	12054		c.e59+2			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						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)					TCTTGGCAGGTAATATTCCTC	0.373													13	64					0	0	0	0	C	32750697	T	C	32750697	5	2	408	1	0	0	0	0	0	0	1	0	1443	1652	57	5	12156	5	BIRC6	2	32750697	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	109955	32750697	210448676	402	78220											
RASGRP3	25780	broad.mit.edu	37	chr2	33745628	33745628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgcctttcaggtactggaTtctgaagtttcctgcagagt	8	14	11	8	0	2	2	1	1	1	1	3	4	3	3	2	2	3	3	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:33745628T>C	ENST00000403687.3	+	6	985	c.245T>C	c.(244-246)aTt>aCt	p.I82T	RASGRP3_ENST00000407811.1_Missense_Mutation_p.I82T|RASGRP3_ENST00000402538.3_Missense_Mutation_p.I82T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	82	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGGTACTGGATTCTGAAGTTT	0.383													31	310					0	0	0	0	C	33745628	T	C	33745628	3	2	408	1	0	0	0	0	1	0	0	0	13158	1493	52	5	259	5	RASGRP3	2	33745628	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	994931	33745628	209453745	403	78221											
RASGRP3	25780	broad.mit.edu	37	chr2	33752314	33752315	+	Frame_Shift_Ins	INS	-	-	A																															ccatccttggagtacacttgINSaaagacttgatagctgtcca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:33752314_33752315insA	ENST00000403687.3	+	10	1658_1659	c.918_919insA	c.(916-921)ttaagafs	p.R307fs	RASGRP3_ENST00000407811.1_Frame_Shift_Ins_p.R307fs|RASGRP3_ENST00000402538.3_Frame_Shift_Ins_p.R307fs	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	307	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAGTACACTTGAAAGACTTGAT	0.47													14	50	---	---	---	---					A	33752315	-	A	33752314	7	5	408	1	0	1	1	0	0	0	0	0	13158	1281	45	0	948	0	RASGRP3	2	33752314	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	6686	33752314	209447059	404	78222											
CRIM1	51232	broad.mit.edu	37	chr2	36774272	36774272	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctattcatcaatcagaagaaAcagtggataccactgctttg	14	11	7	9	0	3	2	3	0	0	2	3	3	3	3	1	1	3	1	1	1	5	4	rs148618747		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:36774272A>G	ENST00000280527.2	+	16	3259	c.2892A>G	c.(2890-2892)aaA>aaG	p.K964K	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	964					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ATCAGAAGAAACAGTGGATAC	0.383													21	69					0	0	0	0	G	36774272	A	G	36774272	2	3	408	1	0	0	0	0	0	0	0	1	3903	40	2	5		5	CRIM1	2	36774272	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3021958	36774272	206425101	405	78223											
HEATR5B	54497	broad.mit.edu	37	chr2	37267572	37267572	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaactgtcaacagcaaggtAagaactagagataatgttgg	16	8	12	5	0	1	2	1	0	0	2	1	4	1	3	0	3	4	3	0	3	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:37267572A>G	ENST00000233099.5	-	20	3041	c.2946T>C	c.(2944-2946)ctT>ctC	p.L982L	HEATR5B_ENST00000354531.2_Silent_p.L982L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	982							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACAGCAAGGTAAGAACTAGAG	0.423													25	87					0	0	0	0	G	37267572	A	G	37267572	2	3	408	1	0	0	0	0	0	0	0	1	7082	349	13	5		5	HEATR5B	2	37267572	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	493300	37267572	205931801	406	78224											
ATL2	64225	broad.mit.edu	37	chr2	38570428	38570428	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttgttatacatgtatctAagcatgaagtccagtagaaa	15	12	7	7	0	1	2	0	1	1	1	2	2	2	2	2	0	2	4	2	0	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:38570428A>G	ENST00000378954.4	-	2	346	c.345T>C	c.(343-345)ctT>ctC	p.L115L	ATL2_ENST00000406122.1_Intron|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000452935.2_Silent_p.L97L|ATL2_ENST00000332337.4_Silent_p.L97L|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000419554.2_Silent_p.L115L	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	115					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						ACATGTATCTAAGCATGAAGT	0.348													25	60					0	0	0	0	G	38570428	A	G	38570428	2	3	408	1	0	0	0	0	0	0	0	1	1111	349	13	5		5	ATL2	2	38570428	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1302856	38570428	204628945	407	78225											
SLC8A1	6546	broad.mit.edu	37	chr2	40397459	40397459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagagaatcggatgttctCtagcatgaaccttcctgaag	12	11	10	8	1	1	4	0	2	1	2	4	6	2	5	2	1	2	2	2	1	5	4	rs148383040		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:40397459C>G	ENST00000542756.1	-	6	2008	c.1985G>C	c.(1984-1986)aGa>aCa	p.R662T	SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R662T|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R659T|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R667T|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R667T|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	667					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	CGGATGTTCTCTAGCATGAAC	0.423													7	62					0	0	0	0	G	40397459	C	G	40397459	3	3	408	1	0	0	0	0	1	0	0	0	14794	913	32	2	941	2	SLC8A1	2	40397459	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1827031	40397459	202801914	408	78226											
PLEKHH2	130271	broad.mit.edu	37	chr2	43980807	43980807	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactgatagagaaaagttgCtgttaatgtatcagacaaat	17	11	9	4	0	1	4	1	1	0	3	1	5	1	4	0	0	1	4	0	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:43980807C>T	ENST00000282406.4	+	25	3813	c.3703C>T	c.(3703-3705)Ctg>Ttg	p.L1235L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1235	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGAAAAGTTGCTGTTAATGTA	0.323													4	118					0	0	0	0	T	43980807	C	T	43980807	2	4	408	1	0	0	0	0	0	0	0	1	12149	796	28	4		4	PLEKHH2	2	43980807	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3583348	43980807	199218566	409	78227											
ABCG8	64241	broad.mit.edu	37	chr2	44073331	44073331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccttggtttgagcagcTggctcagttcaagatgccct	6	12	12	11	0	2	2	2	1	0	1	3	2	3	2	2	3	3	5	2	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:44073331T>C	ENST00000272286.2	+	3	293	c.203T>C	c.(202-204)cTg>cCg	p.L68P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	68	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTGAGCAGCTGGCTCAGTTC	0.532													33	82					0	0	0	0	C	44073331	T	C	44073331	3	2	408	1	0	0	0	0	1	0	0	0	72	1580	55	5	213	5	ABCG8	2	44073331	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	92524	44073331	199126042	410	78228											
PPM1B	5495	broad.mit.edu	37	chr2	44428821	44428821	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctgtataggaatggacaAgtctgcttttctacccagga	10	13	10	8	0	3	0	0	0	3	0	3	3	3	3	1	3	2	3	1	3	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:44428821A>G	ENST00000378551.2	+	2	895	c.483A>G	c.(481-483)caA>caG	p.Q161Q	PPM1B_ENST00000282412.4_Silent_p.Q161Q|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Silent_p.Q161Q|PPM1B_ENST00000409895.4_Silent_p.Q161Q	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	161					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAATGGACAAGTCTGCTTTT	0.438													40	104					0	0	0	0	G	44428821	A	G	44428821	2	3	408	1	0	0	0	0	0	0	0	1	12412	69	3	5		5	PPM1B	2	44428821	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	355490	44428821	198770552	411	78229											
PREPL	9581	broad.mit.edu	37	chr2	44586917	44586917	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacacgaatgattttataggTatgattacagagtagtgggt	13	13	11	4	1	0	3	0	2	0	1	0	4	0	3	0	2	1	2	0	2	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:44586917T>C	ENST00000409936.1	-	0	375				PREPL_ENST00000541738.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000260648.6_De_novo_Start_OutOfFrame|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000410081.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409272.1_Intron	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like						proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTTTATAGGTATGATTACAG	0.428													5	25					0	0	0	0	C	44586917	T	C	44586917	1	2	408	1	0	0	0	0	0	0	0	0	12555	1653	57	5		5	PREPL	2	44586917	Translation_Start_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	158096	44586917	198612456	412	78230											
SIX2	10736	broad.mit.edu	37	chr2	45235822	45235822	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggtaggggttgtgcgcgTaccactcgcgcagcacgctg	7	7	16	11	5	0	0	0	0	0	0	1	0	0	0	1	3	3	6	1	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:45235822T>C	ENST00000303077.6	-	1	747	c.428A>G	c.(427-429)tAc>tGc	p.Y143C		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	143						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTGTGCGCGTACCACTCGCG	0.657													16	111					0	0	0	0	C	45235822	T	C	45235822	3	2	408	1	0	0	0	0	1	0	0	0	14435	1638	57	5	455	5	SIX2	2	45235822	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	648905	45235822	197963551	413	78231											
EPAS1	2034	broad.mit.edu	37	chr2	46587855	46587855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaagtgcacggtcaccaAcagaggccgtactgtcaacc	12	6	11	12	2	2	2	2	1	0	1	2	3	2	2	3	2	4	2	3	2	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:46587855A>G	ENST00000263734.3	+	5	1043	c.533A>G	c.(532-534)aAc>aGc	p.N178S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	178					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACGGTCACCAACAGAGGCCGT	0.552													19	65					0	0	0	0	G	46587855	A	G	46587855	3	3	408	1	0	0	0	0	1	0	0	0	5188	43	2	5	551	5	EPAS1	2	46587855	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1352033	46587855	196611518	414	78232											
MSH2	4436	broad.mit.edu	37	chr2	47635647	47635647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtttataagaatagaGctggaaataaggcatccaag	17	10	10	4	0	0	3	0	1	0	2	1	4	1	4	1	2	1	3	1	2	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:47635647G>A	ENST00000406134.1	+	2	381	c.319G>A	c.(319-321)Gct>Act	p.A107T	MSH2_ENST00000233146.2_Missense_Mutation_p.A107T|MSH2_ENST00000543555.1_Missense_Mutation_p.A41T			P43246	MSH2_HUMAN	mutS homolog 2	107					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAGAATAGAGCTGGAAATAA	0.289			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				24	59					0	0	0	0	A	47635647	G	A	47635647	3	1	408	1	0	0	0	0	1	0	0	0	9940	971	34	4	325	4	MSH2	2	47635647	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1047792	47635647	195563726	415	78233											
KCNK12	56660	broad.mit.edu	37	chr2	47748557	47748557	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctggctgctcaccaggTccccgaagccgatggtgctg	5	8	14	14	3	1	0	1	0	0	0	2	2	2	0	4	3	4	4	4	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:47748557T>C	ENST00000327876.3	-	2	1389	c.782A>G	c.(781-783)gAc>gGc	p.D261G	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	261						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.0?(2)|p.?(2)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTCACCAGGTCCCCGAAGCC	0.632													3	24					0	0	0	0	C	47748557	T	C	47748557	3	2	408	1	0	0	0	0	1	0	0	0	8113	1667	58	5	514	5	KCNK12	2	47748557	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	112910	47748557	195450816	416	78234											
MSH6	2956	broad.mit.edu	37	chr2	48026783	48026783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcttctggccatactcGtgcatatggtgtgtgctttg	6	16	11	8	1	2	1	0	0	2	1	3	1	2	1	1	2	3	2	1	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:48026783G>A	ENST00000234420.4	+	4	1813	c.1661G>A	c.(1660-1662)cGt>cAt	p.R554H	MSH6_ENST00000540021.1_Missense_Mutation_p.R424H|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R252H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	554					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCATACTCGTGCATATGGT	0.423			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				46	93					0	0	0	0	A	48026783	G	A	48026783	3	1	408	1	0	0	0	0	1	0	0	0	9944	1145	40	1	1675	1	MSH6	2	48026783	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	278226	48026783	195172590	417	78235											
FBXO11	80204	broad.mit.edu	37	chr2	48040949	48040949	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaattataaactagaatTccaccattctgtcctcccca	13	11	3	14	0	1	2	0	0	1	2	4	2	4	2	6	0	1	0	6	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:48040949T>C	ENST00000403359.3	-	17	2136	c.2064A>G	c.(2062-2064)ggA>ggG	p.G688G	FBXO11_ENST00000434523.2_Silent_p.G112G|FBXO11_ENST00000316377.4_Silent_p.G604G|FBXO11_ENST00000402508.1_Silent_p.G604G	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	688					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAACTAGAATTCCACCATTCT	0.393			"Mis, F, D"		DLBCL								4	56					0	0	0	0	C	48040949	T	C	48040949	2	2	408	1	0	0	0	0	0	0	0	1	5772	1770	62	5		5	FBXO11	2	48040949	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	14166	48040949	195158424	418	78236											
FOXN2	3344	broad.mit.edu	37	chr2	48600444	48600446	+	In_Frame_Del	DEL	TGC	TGC	-																															ttttcagaatctgatattgaTgctgctgctgcaatgatgct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:48600444_48600446delTGC	ENST00000340553.3	+	6	978_980	c.717_719delTGC	c.(715-720)gat>ga	p.DA239del		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	239					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTGATATTGATGCTGCTGCTGCA	0.305													15	108	---	---	---	---					-	48600446	TGC	-	48600444	7	5	408	1	0	1	0	1	0	0	0	0	6067	1461	51	0	731	0	FOXN2	2	48600444	In_Frame_Del	DEL	TGC	TCGA-F7-A624-01A-22D-A30E-08	559495	48600444	194598929	419	78237											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48869597	48869597	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttttaccacagcagaactgGtatgtagcttacttaaaata	14	13	7	7	0	0	1	0	0	0	1	0	1	0	1	1	1	5	5	1	1	8	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:48869597G>C	ENST00000394754.1	+	6	2529		c.e6+1		LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Splice_Site|GTF2A1L_ENST00000403751.3_Splice_Site|GTF2A1L_ENST00000430487.2_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site|GTF2A1L_ENST00000468326.1_Splice_Site	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN							endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAGAACTGGTATGTAGCTT	0.348													5	20					0	0	0	0	C	48869597	G	C	48869597	5	2	408	1	0	0	0	0	0	0	1	0	15407	1275	44	4	2434	4	STON1-GTF2A1L	2	48869597	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	269153	48869597	194329776	420	78238											
PSME4	23198	broad.mit.edu	37	chr2	54101589	54101589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatggtctggaggtaggTcagtactgtgtatcgtgcat	8	13	13	7	1	2	0	1	0	1	0	3	1	2	1	1	4	3	4	1	4	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:54101589T>C	ENST00000404125.1	-	43	5042	c.4987A>G	c.(4987-4989)Acc>Gcc	p.T1663A	PSME4_ENST00000476586.1_Intron|PSME4_ENST00000421748.2_Missense_Mutation_p.T807A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1663					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGAGGTAGGTCAGTACTGTG	0.378													14	51					0	0	0	0	C	54101589	T	C	54101589	3	2	408	1	0	0	0	0	1	0	0	0	12788	1667	58	5	560	5	PSME4	2	54101589	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5231992	54101589	189097784	421	78239											
RTN4	57142	broad.mit.edu	37	chr2	55254564	55254564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagcaggacagatgggAaatcctcttgaccagccgaa	13	8	10	10	1	2	2	1	1	1	1	3	5	3	4	3	2	2	1	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:55254564A>G	ENST00000337526.6	-	3	914	c.671T>C	c.(670-672)tTc>tCc	p.F224S	RTN4_ENST00000394611.2_Missense_Mutation_p.F18S|RTN4_ENST00000404909.1_Missense_Mutation_p.F18S|RTN4_ENST00000405240.1_Missense_Mutation_p.F18S|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.F18S|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	224					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GACAGATGGGAAATCCTCTTG	0.443													16	59					0	0	0	0	G	55254564	A	G	55254564	3	3	408	1	0	0	0	0	1	0	0	0	13813	246	9	5	2973	5	RTN4	2	55254564	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1152975	55254564	187944809	422	78240											
PNPT1	87178	broad.mit.edu	37	chr2	55914784	55914784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctggactttttacctgtActacagcagagccatctgca	11	12	7	11	0	2	1	0	0	2	1	2	2	2	2	2	1	6	3	2	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:55914784A>G	ENST00000447944.2	-	2	304	c.218T>C	c.(217-219)gTa>gCa	p.V73A		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	73					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTTACCTGTACTACAGCAGA	0.323													14	75					0	0	0	0	G	55914784	A	G	55914784	3	3	408	1	0	0	0	0	1	0	0	0	12245	391	14	5	2241	5	PNPT1	2	55914784	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	660220	55914784	187284589	423	78241											
FAM161A	84140	broad.mit.edu	37	chr2	62066963	62066963	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagaggagatgagttctgTaaatgctcctgggctctcag	9	10	14	8	0	2	3	1	1	2	2	4	4	3	3	1	3	1	5	1	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:62066963T>C	ENST00000404929.1	-	3	1187	c.1176A>G	c.(1174-1176)ttA>ttG	p.L392L	FAM161A_ENST00000405894.3_Silent_p.L392L	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	392					response to stimulus|visual perception	centrosome		p.L283F(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGAGTTCTGTAAATGCTCCT	0.458													21	67					0	0	0	0	C	62066963	T	C	62066963	2	2	408	1	0	0	0	0	0	0	0	1	5513	1635	57	5		5	FAM161A	2	62066963	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	6152179	62066963	181132410	424	78242											
CCT4	10575	broad.mit.edu	37	chr2	62096656	62096656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccaacagaggctggacAaccagttcctccaaaatgtt	14	8	8	11	0	0	1	0	0	0	1	2	3	2	2	4	2	3	3	4	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:62096656A>G	ENST00000394440.3	-	13	1820	c.1524T>C	c.(1522-1524)gtT>gtC	p.V508V	CCT4_ENST00000544079.1_Silent_p.V478V|CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Silent_p.V452V|CCT4_ENST00000544185.1_Silent_p.V358V	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	508					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GAGGCTGGACAACCAGTTCCT	0.438													11	43					0	0	0	0	G	62096656	A	G	62096656	2	3	408	1	0	0	0	0	0	0	0	1	2984	117	5	5		5	CCT4	2	62096656	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	29693	62096656	181102717	425	78243											
CCT4	10575	broad.mit.edu	37	chr2	62099690	62099690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaccacgaacaacaattgTaactgtttttccagggctgg	13	10	9	9	1	0	1	0	0	0	1	1	2	1	1	2	2	4	3	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:62099690T>C	ENST00000394440.3	-	11	1455	c.1159A>G	c.(1159-1161)Aca>Gca	p.T387A	CCT4_ENST00000544079.1_Missense_Mutation_p.T357A|CCT4_ENST00000461540.2_Intron|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.T331A|CCT4_ENST00000544185.1_Missense_Mutation_p.T237A	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	387					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	p.T387A(1)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ACAACAATTGTAACTGTTTTT	0.428													24	78					0	0	0	0	C	62099690	T	C	62099690	3	2	408	1	0	0	0	0	1	0	0	0	2984	1638	57	5	476	5	CCT4	2	62099690	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3034	62099690	181099683	426	78244											
EHBP1	23301	broad.mit.edu	37	chr2	63206435	63206435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctatggtgaaatggctgCagaaaagttgaaagaaaggt	16	8	13	4	0	0	4	0	2	0	2	0	4	0	4	0	3	2	4	0	3	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:63206435C>T	ENST00000263991.5	+	16	3160	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	EHBP1_ENST00000431489.1_Missense_Mutation_p.A858V|EHBP1_ENST00000405289.1_Missense_Mutation_p.A858V|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000354487.3_Missense_Mutation_p.A858V|EHBP1_ENST00000405015.3_Missense_Mutation_p.A858V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	893						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAATGGCTGCAGAAAAGTTG	0.473													15	56					0	0	0	0	T	63206435	C	T	63206435	3	4	408	1	0	0	0	0	1	0	0	0	5011	710	25	4	2736	4	EHBP1	2	63206435	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1106745	63206435	179992938	427	78245											
OTX1	5013	broad.mit.edu	37	chr2	63282711	63282713	+	In_Frame_Del	DEL	AAG	AAG	-																															gaaccaagagccgcccagccAagaagaagtcctctccagtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:63282711_63282713delAAG	ENST00000282549.2	+	5	601_603	c.325_327delAAG	c.(325-327)del	p.K111del	OTX1_ENST00000366671.3_In_Frame_Del_p.K111del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	111						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCGCCCAGCCAAGAAGAAGTCCT	0.655													22	82	---	---	---	---					-	63282713	AAG	-	63282711	7	5	408	1	0	1	0	1	0	0	0	0	11391	131	5	0	335	0	OTX1	2	63282711	In_Frame_Del	DEL	AAG	TCGA-F7-A624-01A-22D-A30E-08	76276	63282711	179916662	428	78246											
ACTR2	10097	broad.mit.edu	37	chr2	65480896	65480896	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtggtagactctggagaTggtgtgactcacatttgccc	8	12	13	8	0	2	3	1	1	1	2	2	4	2	3	1	3	1	2	1	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:65480896T>C	ENST00000260641.5	+	5	640	c.483T>C	c.(481-483)gaT>gaC	p.D161D	ACTR2_ENST00000542850.1_Silent_p.D106D|ACTR2_ENST00000377982.4_Silent_p.D166D	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	161					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ACTCTGGAGATGGTGTGACTC	0.423													17	178					0	0	0	0	C	65480896	T	C	65480896	2	2	408	1	0	0	0	0	0	0	0	1	211	1461	51	5		5	ACTR2	2	65480896	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2198185	65480896	177718477	429	78247											
SPRED2	200734	broad.mit.edu	37	chr2	65561814	65561814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggctttggaaagtaaGtccaaacttcctattatcga	13	11	9	8	1	0	0	0	0	0	0	3	2	2	1	2	2	2	3	2	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:65561814G>A	ENST00000356388.4	-	3	487	c.298C>T	c.(298-300)Ctt>Ttt	p.L100F	SPRED2_ENST00000443619.2_Missense_Mutation_p.L97F|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	100	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.L100F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGGAAAGTAAGTCCAAACTTC	0.448													47	147					0	0	0	0	A	65561814	G	A	65561814	3	1	408	1	0	0	0	0	1	0	0	0	15183	1029	36	4	974	4	SPRED2	2	65561814	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	80918	65561814	177637559	430	78248											
SPRED2	200734	broad.mit.edu	37	chr2	65561892	65561892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccaagtcctttcttacatAgcattccaataccacctgaa	13	11	4	13	0	1	1	0	1	1	0	3	2	3	1	5	0	3	1	5	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:65561892A>G	ENST00000356388.4	-	3	409	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71H|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	74	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TTTCTTACATAGCATTCCAAT	0.438													4	148					0	0	0	0	G	65561892	A	G	65561892	3	3	408	1	0	0	0	0	1	0	0	0	15183	420	15	5	1052	5	SPRED2	2	65561892	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	78	65561892	177637481	431	78249											
BMP10	27302	broad.mit.edu	37	chr2	69092780	69092780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctatctacagccacattCggagacggccatgccttcgt	8	11	8	14	3	2	1	0	0	2	1	4	2	2	1	3	2	3	0	3	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:69092780C>T	ENST00000295379.1	-	2	1416	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	420					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CAGCCACATTCGGAGACGGCC	0.408													50	139					0	0	0	0	T	69092780	C	T	69092780	3	4	408	1	0	0	0	0	1	0	0	0	1462	893	31	1	20	1	BMP10	2	69092780	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3530888	69092780	174106593	432	78250											
SNRNP27	11017	broad.mit.edu	37	chr2	70123669	70123669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaaagagcaaagaacGgcagattactggtaatgtta	19	7	10	5	1	0	4	0	0	0	4	0	4	0	4	0	2	4	4	0	2	7	3	rs139699067		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:70123669G>A	ENST00000244227.3	+	3	682	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86Q	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	86					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						aGCAAAGAACGGCAGATTACT	0.328													4	41					0	0	0	0	A	70123669	G	A	70123669	3	1	408	1	0	0	0	0	1	0	0	0	14942	1116	39	1	267	1	SNRNP27	2	70123669	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1030889	70123669	173075704	433	78251											
CLEC4F	165530	broad.mit.edu	37	chr2	71036435	71036435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagggacagggaggggTgtctatgaagctgcaagctc	10	7	16	8	0	1	1	0	1	1	0	3	4	2	3	1	4	3	3	1	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71036435T>C	ENST00000272367.2	-	7	1814	c.1738A>G	c.(1738-1740)Acc>Gcc	p.T580A	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	580	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGGGAGGGGTGTCTATGAAG	0.542													16	30					0	0	0	0	C	71036435	T	C	71036435	3	2	408	1	0	0	0	0	1	0	0	0	3546	1696	59	5	35	5	CLEC4F	2	71036435	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	912766	71036435	172162938	434	78252											
CLEC4F	165530	broad.mit.edu	37	chr2	71043570	71043570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaagaactggatctcagCactagtgttgtcaaaactgc	12	12	8	9	0	3	1	2	0	2	1	4	2	3	2	0	1	4	2	0	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71043570C>T	ENST00000272367.2	-	4	1019	c.943G>A	c.(943-945)Gct>Act	p.A315T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A315T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	315					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGATCTCAGCACTAGTGTTG	0.413													30	119					0	0	0	0	T	71043570	C	T	71043570	3	4	408	1	0	0	0	0	1	0	0	0	3546	710	25	4	842	4	CLEC4F	2	71043570	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	7135	71043570	172155803	435	78253											
ATP6V1B1	525	broad.mit.edu	37	chr2	71163099	71163099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctccatggccatggagatAgacagcaggcctggggggct	8	7	16	10	0	0	2	0	0	0	2	1	3	1	2	3	6	2	3	3	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71163099A>G	ENST00000234396.4	+	1	88	c.15A>G	c.(13-15)atA>atG	p.I5M	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.I5M	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	5					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCATGGAGATAGACAGCAGGC	0.637													21	50					0	0	0	0	G	71163099	A	G	71163099	3	3	408	1	0	0	0	0	1	0	0	0	1182	410	15	5	17	5	ATP6V1B1	2	71163099	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	119529	71163099	172036274	436	78254											
ZNF638	27332	broad.mit.edu	37	chr2	71653961	71653961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattgaccaagatgattgCatttcccacagtgaacctaa	14	12	6	9	0	0	4	0	3	0	1	1	4	1	4	3	0	2	1	3	0	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71653961C>T	ENST00000409544.1	+	24	5592	c.4962C>T	c.(4960-4962)tgC>tgT	p.C1654C	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Silent_p.C1654C|ZNF638_ENST00000409407.1_Silent_p.C594C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1654					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGATGATTGCATTTCCCACA	0.348													22	62					0	0	0	0	T	71653961	C	T	71653961	2	4	408	1	0	0	0	0	0	0	0	1	18150	718	25	4		4	ZNF638	2	71653961	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	490862	71653961	171545412	437	78255											
EXOC6B	23233	broad.mit.edu	37	chr2	72740281	72740281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtgggtacggagtgctgCgatggtttttgaaagtgcca	8	11	16	6	3	0	1	0	1	0	0	0	4	0	2	1	3	4	3	1	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:72740281C>T	ENST00000272427.6	-	11	1277	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	EXOC6B_ENST00000410104.1_Missense_Mutation_p.A383T	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	383					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CGGAGTGCTGCGATGGTTTTT	0.383													15	32					0	0	0	0	T	72740281	C	T	72740281	3	4	408	1	0	0	0	0	1	0	0	0	5346	768	27	1	1336	1	EXOC6B	2	72740281	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1086320	72740281	170459092	438	78256											
NAT8	9027	broad.mit.edu	37	chr2	73868455	73868455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagccacgctcactcaggtAggatttggtaatgtcagaca	11	9	12	9	1	3	1	3	0	0	1	3	3	3	3	1	4	1	3	1	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:73868455A>G	ENST00000272425.3	-	2	450	c.301T>C	c.(301-303)Tac>Cac	p.Y101H		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	101	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCACTCAGGTAGGATTTGGTA	0.537													36	162					0	0	0	0	G	73868455	A	G	73868455	3	3	408	1	0	0	0	0	1	0	0	0	10249	420	15	5	386	5	NAT8	2	73868455	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1128174	73868455	169330918	439	78257											
WDR54	84058	broad.mit.edu	37	chr2	74650994	74650994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatacaggaacgtggtcagGccgggtgctggtgtttgaca	8	9	17	7	2	1	1	1	1	0	0	1	3	1	3	1	6	3	2	1	6	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74650994G>C	ENST00000348227.4	+	6	507	c.419G>C	c.(418-420)gGc>gCc	p.G140A	WDR54_ENST00000409791.1_Missense_Mutation_p.G88A|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	140										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACGTGGTCAGGCCGGGTGCTG	0.552													42	129					0	0	0	0	C	74650994	G	C	74650994	3	2	408	1	0	0	0	0	1	0	0	0	17402	1203	42	4	437	4	WDR54	2	74650994	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	782539	74650994	168548379	440	78258											
MOGS	7841	broad.mit.edu	37	chr2	74689730	74689730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattccaccaaggaggccgcTgagggcagcctgacccaaaa	13	4	11	13	1	0	2	0	2	0	0	1	3	1	3	5	3	1	2	5	3	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74689730T>C	ENST00000233616.4	-	4	1348	c.1186A>G	c.(1186-1188)Agc>Ggc	p.S396G	MOGS_ENST00000452063.2_Missense_Mutation_p.S290G|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	396					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGGAGGCCGCTGAGGGCAGCC	0.582													9	310					0	0	0	0	C	74689730	T	C	74689730	3	2	408	1	0	0	0	0	1	0	0	0	9767	1580	55	5	1331	5	MOGS	2	74689730	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38736	74689730	168509643	441	78259											
CCDC142	84865	broad.mit.edu	37	chr2	74702467	74702467	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacccttgcaatccttgcaAcacaggctccagtacggtgc	10	8	8	15	1	0	0	0	0	0	0	2	0	2	0	3	2	6	4	3	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74702467A>G	ENST00000393965.3	-	7	2077	c.1681T>C	c.(1681-1683)Ttg>Ctg	p.L561L	CCDC142_ENST00000290418.4_Silent_p.L554L	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	561										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AATCCTTGCAACACAGGCTCC	0.557													38	104					0	0	0	0	G	74702467	A	G	74702467	2	3	408	1	0	0	0	0	0	0	0	1	2801	40	2	5		5	CCDC142	2	74702467	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	12737	74702467	168496906	442	78260											
PCGF1	84759	broad.mit.edu	37	chr2	74733873	74733873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcactgtcttgcaagccaGgcaccagcttatacacgatg	11	9	8	13	1	2	0	1	0	1	0	2	1	2	0	2	1	4	3	2	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74733873G>T	ENST00000233630.6	-	3	1249	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	113	Necessary for repressor activity.|No repressor activity.				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCAAGCCAGGCACCAGCTT	0.532													26	74					3.28513e-13	3.42641e-13	1	0	T	74733873	G	T	74733873	3	4	408	1	0	0	0	0	1	0	0	0	11645	1000	35	4	469	4	PCGF1	2	74733873	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	31406	74733873	168465500	443	78261											
TLX2	3196	broad.mit.edu	37	chr2	74742952	74742952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccttgcgcatgaccgAcgcacaggtcaaaacgtggt	11	6	12	12	4	1	1	1	1	0	0	1	2	1	1	2	3	2	2	2	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74742952A>G	ENST00000233638.7	+	2	916	c.593A>G	c.(592-594)gAc>gGc	p.D198G		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CGCATGACCGACGCACAGGTC	0.692													10	39					0	0	0	0	G	74742952	A	G	74742952	3	3	408	1	0	0	0	0	1	0	0	0	16055	275	10	5	599	5	TLX2	2	74742952	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	9079	74742952	168456421	444	78262											
DQX1	165545	broad.mit.edu	37	chr2	74750494	74750494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggaagggagggagaaggaGaagtcagccagccagtgagt	14	4	18	5	0	1	3	1	1	0	2	1	7	1	5	2	4	2	0	2	4	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74750494G>A	ENST00000404568.3	-	5	1206	c.987C>T	c.(985-987)ttC>ttT	p.F329F	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Silent_p.F329F	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	329	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGGAGAAGGAGAAGTCAGCCA	0.547													87	302					0	0	0	0	A	74750494	G	A	74750494	2	1	408	1	0	0	0	0	0	0	0	1	4787	933	33	2		2	DQX1	2	74750494	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	7542	74750494	168448879	445	78263											
CTNNA2	1496	broad.mit.edu	37	chr2	80136806	80136806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagagcatcatcagcggCgcagcgctgatggccgactc	8	6	14	13	4	2	2	2	1	0	1	3	4	2	2	1	3	3	3	1	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:80136806C>T	ENST00000466387.1	+	11	1663	c.939C>T	c.(937-939)ggC>ggT	p.G313G	CTNNA2_ENST00000496558.1_Silent_p.G313G|CTNNA2_ENST00000541047.1_Silent_p.G313G|CTNNA2_ENST00000402739.4_Silent_p.G313G|CTNNA2_ENST00000361291.4_Silent_p.G347G|CTNNA2_ENST00000540488.1_Silent_p.G313G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	313					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCATCAGCGGCGCAGCGCTGA	0.637													39	120					0	0	0	0	T	80136806	C	T	80136806	2	4	408	1	0	0	0	0	0	0	0	1	4045	755	27	1		1	CTNNA2	2	80136806	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5386312	80136806	163062567	446	78264											
KCMF1	56888	broad.mit.edu	37	chr2	85280508	85280508	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagagtaataaaggaaaTgagcctccaccacctcctct	16	7	7	11	0	1	2	0	1	1	1	3	4	3	3	5	1	1	1	5	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:85280508T>C	ENST00000409785.3	+	7	1481	c.1122T>C	c.(1120-1122)aaT>aaC	p.N374N		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	374						intracellular	ligase activity|zinc ion binding			ovary(3)	3						ATAAAGGAAATGAGCCTCCAC	0.418													10	25					0	0	0	0	C	85280508	T	C	85280508	2	2	408	1	0	0	0	0	0	0	0	1	8053	1461	51	5		5	KCMF1	2	85280508	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5143702	85280508	157918865	447	78265											
MAT2A	4144	broad.mit.edu	37	chr2	85769463	85769463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacaatctaccacctacaGccaagtggcagatttgttat	13	11	7	10	0	1	1	0	0	1	1	1	2	1	1	3	1	4	2	3	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:85769463G>A	ENST00000306434.3	+	6	858	c.735G>A	c.(733-735)caG>caA	p.Q245Q	MAT2A_ENST00000409017.1_Silent_p.Q182Q	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	245					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ACCACCTACAGCCAAGTGGCA	0.393													11	49					0	0	0	0	A	85769463	G	A	85769463	2	1	408	1	0	0	0	0	0	0	0	1	9399	962	34	4		4	MAT2A	2	85769463	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	488955	85769463	157429910	448	78266											
ST3GAL5	8869	broad.mit.edu	37	chr2	86067278	86067278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctgtgttcaaaattcacGatcaatgcctccactgagat	11	14	6	10	1	4	1	3	1	1	1	5	3	5	1	2	0	1	1	2	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:86067278G>A	ENST00000377332.3	-	7	1354	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.R388C|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.R393C	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	416					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CAAAATTCACGATCAATGCCT	0.413													22	72					0	0	0	0	A	86067278	G	A	86067278	3	1	408	1	0	0	0	0	1	0	0	0	15308	1058	37	1	14	1	ST3GAL5	2	86067278	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	297815	86067278	157132095	449	78267											
POLR1A	25885	broad.mit.edu	37	chr2	86305002	86305002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggaattccaatttcgtTggtgttgatgtacatgtctg	8	16	11	6	1	1	1	0	1	1	0	3	2	2	2	1	2	1	3	1	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:86305002T>C	ENST00000263857.6	-	11	1738	c.1360A>G	c.(1360-1362)Aac>Gac	p.N454D	POLR1A_ENST00000409681.1_Missense_Mutation_p.N454D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	454					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCAATTTCGTTGGTGTTGATG	0.542													44	130					0	0	0	0	C	86305002	T	C	86305002	3	2	408	1	0	0	0	0	1	0	0	0	12281	1812	63	5	3898	5	POLR1A	2	86305002	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	237724	86305002	156894371	450	78268											
FABP1	2168	broad.mit.edu	37	chr2	88422623	88422623	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcacccaatgtcatggTctgaaagccagaaaagaaat	17	8	8	8	0	3	3	2	1	1	2	3	3	3	3	2	1	1	0	2	1	6	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:88422623T>C	ENST00000295834.3	-	4	432	c.333_splice	c.e4-1	p.T112_splice	FABP1_ENST00000393750.3_3'UTR|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	112					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						AATGTCATGGTCTGAAAGCCA	0.284													20	50					0	0	0	0	C	88422623	T	C	88422623	5	2	408	1	0	0	0	0	0	0	1	0	5396	1681	58	5	53	5	FABP1	2	88422623	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2117621	88422623	154776750	451	78269											
THNSL2	55258	broad.mit.edu	37	chr2	88472781	88472781	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctgaagagctcccacagTtggacagagggaccctgtgc	9	7	13	12	0	0	3	0	1	0	2	1	5	1	5	3	2	3	2	3	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:88472781T>C	ENST00000324166.5	+	1	1803	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	THNSL2_ENST00000343544.4_Silent_p.L38L|THNSL2_ENST00000358591.2_Silent_p.L38L|THNSL2_ENST00000377254.3_Silent_p.L38L|THNSL2_ENST00000449349.1_Silent_p.L6L|THNSL2_ENST00000402102.1_Silent_p.L38L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	38					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCTCCCACAGTTGGACAGAGG	0.597													29	73					0	0	0	0	C	88472781	T	C	88472781	2	2	408	1	0	0	0	0	0	0	0	1	15957	1722	60	5		5	THNSL2	2	88472781	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	50158	88472781	154726592	452	78270											
EIF2AK3	9451	broad.mit.edu	37	chr2	88870488	88870488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgctcttcctcatcctgGtccattgcagtcactaaccc	6	13	6	16	0	4	0	2	0	2	0	7	0	7	0	4	1	3	2	4	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:88870488G>A	ENST00000303236.3	-	14	3190	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Silent_p.D812D|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	963	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCTCATCCTGGTCCATTGCAG	0.468													39	124					0	0	0	0	A	88870488	G	A	88870488	2	1	408	1	0	0	0	0	0	0	0	1	5034	1252	44	4		4	EIF2AK3	2	88870488	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	397707	88870488	154328885	453	78271											
ZNF2	7549	broad.mit.edu	37	chr2	95847619	95847619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtgtaacgagtgtggcaAagctttctttgaccgctcat	9	13	10	9	2	3	1	2	1	1	0	3	2	3	1	1	1	2	4	1	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:95847619A>G	ENST00000398107.2	+	4	1442	c.920A>G	c.(919-921)aAa>aGa	p.K307R	ZNF2_ENST00000295210.6_Missense_Mutation_p.K311R|ZNF2_ENST00000453539.2_Missense_Mutation_p.K362R|ZNF2_ENST00000425369.1_Missense_Mutation_p.K269R|ZNF2_ENST00000340539.5_Missense_Mutation_p.K349R	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GAGTGTGGCAAAGCTTTCTTT	0.502													4	145					0	0	0	0	G	95847619	A	G	95847619	3	3	408	1	0	0	0	0	1	0	0	0	17855	14	1	5	1060	5	ZNF2	2	95847619	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6977131	95847619	147351754	454	78272											
ZNF2	7549	broad.mit.edu	37	chr2	95847832	95847832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcaacatcaacggcgttAcgccaaacagggaatagact	15	8	8	10	3	2	1	2	0	0	1	2	2	2	2	1	2	4	1	1	2	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:95847832A>G	ENST00000398107.2	+	4	1655	c.1133A>G	c.(1132-1134)tAc>tGc	p.Y378C	ZNF2_ENST00000295210.6_Missense_Mutation_p.Y382C|ZNF2_ENST00000453539.2_Missense_Mutation_p.Y433C|ZNF2_ENST00000425369.1_Missense_Mutation_p.Y340C|ZNF2_ENST00000340539.5_Missense_Mutation_p.Y420C	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CAACGGCGTTACGCCAAACAG	0.453													27	85					0	0	0	0	G	95847832	A	G	95847832	3	3	408	1	0	0	0	0	1	0	0	0	17855	391	14	5	1273	5	ZNF2	2	95847832	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	213	95847832	147351541	455	78273											
ADRA2B	151	broad.mit.edu	37	chr2	96781717	96781717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcgtggccaccaggatgtCggcggcggccagcgacacca	8	3	16	14	5	0	0	0	0	0	0	1	3	0	1	4	5	2	0	4	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:96781717C>T	ENST00000409345.3	-	1	267	c.172G>A	c.(172-174)Gac>Aac	p.D58N		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	58					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ACCAGGATGTCGGCGGCGGCC	0.642													3	41					0	0	0	0	T	96781717	C	T	96781717	3	4	408	1	0	0	0	0	1	0	0	0	338	884	31	1	1175	1	ADRA2B	2	96781717	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	933885	96781717	146417656	456	78274											
SNRNP200	23020	broad.mit.edu	37	chr2	96956475	96956475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgccccttctctggactgtAcacctgggtgcctttgatga	6	12	10	13	1	1	2	0	2	1	0	2	3	1	3	4	2	2	1	4	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:96956475A>G	ENST00000323853.5	-	19	2577	c.2500T>C	c.(2500-2502)Tac>Cac	p.Y834H	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	834	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTGGACTGTACACCTGGGTG	0.488													22	189					0	0	0	0	G	96956475	A	G	96956475	3	3	408	1	0	0	0	0	1	0	0	0	14940	391	14	5	4018	5	SNRNP200	2	96956475	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	174758	96956475	146242898	457	78275											
CNNM3	26505	broad.mit.edu	37	chr2	97490844	97490844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacaacgagggtgaaggCgaccccttctacgaggtcct	10	7	13	11	3	1	2	0	2	1	0	2	5	2	2	3	3	3	0	3	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:97490844C>T	ENST00000305510.3	+	2	1303	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	425	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						AGGGTGAAGGCGACCCCTTCT	0.607													14	51					0	0	0	0	T	97490844	C	T	97490844	2	4	408	1	0	0	0	0	0	0	0	1	3644	755	27	1		1	CNNM3	2	97490844	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	534369	97490844	145708529	458	78276											
VWA3B	200403	broad.mit.edu	37	chr2	98750336	98750336	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagaatttcctgcattcTccacaaaggatggtgacaat	12	12	9	8	0	1	2	0	1	1	1	3	3	2	3	2	2	1	2	2	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:98750336T>G	ENST00000477737.1	+	7	1126	c.922T>G	c.(922-924)Tcc>Gcc	p.S308A	VWA3B_ENST00000435344.1_Missense_Mutation_p.S308A|VWA3B_ENST00000451075.2_Missense_Mutation_p.S158A	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	308										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTGCATTCTCCACAAAGGA	0.458													6	247					0	0	0	0	G	98750336	T	G	98750336	3	3	408	1	0	0	0	0	1	0	0	0	17337	1551	54	5	944	5	VWA3B	2	98750336	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1259492	98750336	144449037	459	78277											
CNGA3	1261	broad.mit.edu	37	chr2	99012708	99012708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttacagtctctactggTccaccttgacccttaccacc	9	12	4	16	0	1	1	0	1	1	0	3	1	2	1	5	1	3	0	5	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99012708T>C	ENST00000393504.1	+	8	1492	c.1075T>C	c.(1075-1077)Tcc>Ccc	p.S359P	CNGA3_ENST00000272602.2_Missense_Mutation_p.S359P|CNGA3_ENST00000409937.1_Missense_Mutation_p.S363P|CNGA3_ENST00000436404.2_Missense_Mutation_p.S341P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	359					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCTCTACTGGTCCACCTTGAC	0.502													29	97					0	0	0	0	C	99012708	T	C	99012708	3	2	408	1	0	0	0	0	1	0	0	0	3628	1667	58	5	1101	5	CNGA3	2	99012708	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	262372	99012708	144186665	460	78278											
CNGA3	1261	broad.mit.edu	37	chr2	99013682	99013682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgatggggaagttccCggggatgctacaaaaacaga	12	7	14	8	1	0	2	0	1	0	1	1	4	1	4	1	5	3	3	1	5	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99013682C>T	ENST00000393504.1	+	8	2466	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	CNGA3_ENST00000272602.2_Silent_p.P683P|CNGA3_ENST00000409937.1_Silent_p.P687P|CNGA3_ENST00000436404.2_Silent_p.P665P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	683					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGAAGTTCCCGGGGATGCTA	0.557													19	46					0	0	0	0	T	99013682	C	T	99013682	2	4	408	1	0	0	0	0	0	0	0	1	3628	639	23	1		1	CNGA3	2	99013682	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	974	99013682	144185691	461	78279											
INPP4A	3631	broad.mit.edu	37	chr2	99149904	99149904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttttgttgcggtgagtgtCaccacccctcctcaggcatt	6	13	10	12	1	2	1	2	1	0	0	3	1	3	1	4	2	1	3	4	2	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99149904C>T	ENST00000074304.5	+	5	609	c.216C>T	c.(214-216)gtC>gtT	p.V72V	INPP4A_ENST00000409540.3_Silent_p.V72V|INPP4A_ENST00000409463.1_Silent_p.V72V|INPP4A_ENST00000523221.1_Silent_p.V72V|INPP4A_ENST00000409851.3_Silent_p.V72V|INPP4A_ENST00000409016.3_Silent_p.V72V|INPP4A_ENST00000545415.1_Silent_p.V72V	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	72	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CGGTGAGTGTCACCACCCCTC	0.507													30	105					0	0	0	0	T	99149904	C	T	99149904	2	4	408	1	0	0	0	0	0	0	0	1	7805	813	29	2		2	INPP4A	2	99149904	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	136222	99149904	144049469	462	78280											
UNC50	25972	broad.mit.edu	37	chr2	99226389	99226389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggcagatgctctaccTgttcacatccccacagagag	9	9	9	14	0	2	2	1	0	1	2	3	3	3	2	4	1	3	3	4	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99226389T>C	ENST00000409975.1	+	1	1348	c.218T>C	c.(217-219)cTg>cCg	p.L73P	UNC50_ENST00000409347.1_Missense_Mutation_p.L73P|UNC50_ENST00000357765.2_Missense_Mutation_p.L56P			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	56					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ATGCTCTACCTGTTCACATCC	0.473													4	124					0	0	0	0	C	99226389	T	C	99226389	3	2	408	1	0	0	0	0	1	0	0	0	17086	1580	55	5	169	5	UNC50	2	99226389	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	76485	99226389	143972984	463	78281											
UNC50	25972	broad.mit.edu	37	chr2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-																															cattttgcattttatccagcTttttttcatcaaccgtaagt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99232795delT	ENST00000409975.1	+	3	1708	c.578delT	c.(577-579)ctfs	p.L193fs	UNC50_ENST00000409347.1_Frame_Shift_Del_p.L193fs|UNC50_ENST00000357765.2_Frame_Shift_Del_p.L176fs			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	176					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTATCCAGCTTTTTTTCATC	0.408													10	151	---	---	---	---					-	99232795	T	-	99232795	7	5	408	1	0	1	0	1	0	0	0	0	17086	1609	56	0	537	0	UNC50	2	99232795	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	6406	99232795	143966578	464	78282											
MGAT4A	11320	broad.mit.edu	37	chr2	99242041	99242041	+	Frame_Shift_Del	DEL	T	T	-																															tcagatgatcagttggtggcTtttttaatatgaatctgaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99242041delT	ENST00000393487.1	-	16	1909	c.1596delA	c.(1594-1596)aafs	p.K532fs	MGAT4A_ENST00000409391.1_Frame_Shift_Del_p.K532fs|MGAT4A_ENST00000264968.2_Frame_Shift_Del_p.K532fs|MGAT4A_ENST00000414521.2_Intron	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	532					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGTTGGTGGCTTTTTTAATAT	0.254													10	63	---	---	---	---					-	99242041	T	-	99242041	7	5	408	1	0	1	0	1	0	0	0	0	9614	1606	56	0	94	0	MGAT4A	2	99242041	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	9246	99242041	143957332	465	78283											
TXNDC9	10190	broad.mit.edu	37	chr2	99949571	99949571	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatccatctgatccagttTttgaatttcagaatccaaat	12	15	4	10	0	3	3	2	2	1	1	6	3	6	3	3	0	0	1	3	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99949571T>C	ENST00000264255.3	-	2	358	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	TXNDC9_ENST00000409434.1_Missense_Mutation_p.K35E	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	35					cell redox homeostasis		protein binding			lung(1)	1						TGATCCAGTTTTTGAATTTCA	0.438													9	88					0	0	0	0	C	99949571	T	C	99949571	3	2	408	1	0	0	0	0	1	0	0	0	16898	1850	64	5	593	5	TXNDC9	2	99949571	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	707530	99949571	143249802	466	78284											
EIF5B	9669	broad.mit.edu	37	chr2	99977764	99977764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaccgaaagtggaaatgTactctgggagtgatgatgat	15	9	12	5	1	1	3	0	3	1	0	1	6	1	5	1	2	2	1	1	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99977764T>C	ENST00000289371.5	+	4	602	c.400T>C	c.(400-402)Tac>Cac	p.Y134H		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	134					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGTGGAAATGTACTCTGGGAG	0.353													31	82					0	0	0	0	C	99977764	T	C	99977764	3	2	408	1	0	0	0	0	1	0	0	0	5082	1638	57	5	414	5	EIF5B	2	99977764	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	28193	99977764	143221609	467	78285											
REV1	51455	broad.mit.edu	37	chr2	100027230	100027230	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggctttcgtaccaTgattttgagagttagacgtt	9	13	10	9	2	0	3	0	2	0	2	1	4	0	3	3	1	2	4	3	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:100027230T>C	ENST00000258428.3	-	14	2500	c.2272A>G	c.(2272-2274)Atg>Gtg	p.M758V	REV1_ENST00000393445.3_Missense_Mutation_p.M757V|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	758					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCGTACCATGATTTTGAGA	0.428								Direct reversal of damage					5	118					0	0	0	0	C	100027230	T	C	100027230	3	2	408	1	0	0	0	0	1	0	0	0	13321	1464	51	5	1523	5	REV1	2	100027230	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	49466	100027230	143172143	468	78286											
REV1	51455	broad.mit.edu	37	chr2	100038070	100038070	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaggatttcggtaatgtcTaccagcgcttcatcacaact	11	11	8	11	2	3	0	2	0	1	0	4	1	3	1	1	2	3	3	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:100038070T>C	ENST00000258428.3	-	11	1950	c.1722A>G	c.(1720-1722)gtA>gtG	p.V574V	REV1_ENST00000393445.3_Silent_p.V573V|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	574	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGTAATGTCTACCAGCGCTT	0.453								Direct reversal of damage					25	81					0	0	0	0	C	100038070	T	C	100038070	2	2	408	1	0	0	0	0	0	0	0	1	13321	1509	53	5		5	REV1	2	100038070	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	10840	100038070	143161303	469	78287											
RPL31	6160	broad.mit.edu	37	chr2	101620626	101620626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgaatcgtaggggcttCaagaagcgtgcacctcgggc	8	10	14	9	3	1	2	1	1	0	1	3	2	1	2	1	3	2	4	1	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:101620626C>A	ENST00000409711.1	+	2	125	c.114C>A	c.(112-114)ttC>ttA	p.F38L	RPL31_ENST00000409038.1_Missense_Mutation_p.F38L|RPL31_ENST00000264258.3_Missense_Mutation_p.F38L|RPL31_ENST00000409733.1_Missense_Mutation_p.F38L|RPL31_ENST00000409650.1_Missense_Mutation_p.F38L|RPL31_ENST00000409320.3_Missense_Mutation_p.F38L|RPL31_ENST00000409000.1_Missense_Mutation_p.F38L|RPL31_ENST00000409028.4_Missense_Mutation_p.F38L			P62899	RL31_HUMAN	ribosomal protein L31	38					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						GTAGGGGCTTCAAGAAGCGTG	0.448													11	35					6.42651e-13	6.69979e-13	1	0	A	101620626	C	A	101620626	3	1	408	1	0	0	0	0	1	0	0	0	13666	825	29	2	120	2	RPL31	2	101620626	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1582556	101620626	141578747	470	78288											
MAP4K4	9448	broad.mit.edu	37	chr2	102505386	102505386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactaaaattcttgtgtgaaCgcaatgacaaggtaatagtt	15	12	9	5	1	1	2	0	2	1	0	1	3	1	2	0	1	1	3	0	1	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:102505386C>T	ENST00000413150.2	+	28	3425	c.3370C>T	c.(3370-3372)Cgc>Tgc	p.R1124C	MAP4K4_ENST00000347699.4_Missense_Mutation_p.R1209C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R1290C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R1249C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R1012C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R1136C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R1242C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R1008C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1209	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGTGTGAACGCAATGACAA	0.398													9	19					0	0	0	0	T	102505386	C	T	102505386	3	4	408	1	0	0	0	0	1	0	0	0	9331	536	19	1	4014	1	MAP4K4	2	102505386	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	884760	102505386	140693987	471	78289											
POU3F3	5455	broad.mit.edu	37	chr2	105473172	105473172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagcatcgacaagatcgcgGcgcagggccgcaagcgcaag	12	2	14	13	6	0	1	0	0	0	1	2	2	0	1	1	2	2	4	1	2	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:105473172G>T	ENST00000361360.2	+	1	1204	c.1204G>T	c.(1204-1206)Gcg>Tcg	p.A402S	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	402					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAGATCGCGGCGCAGGGCCG	0.632													16	46					4.7546e-09	4.90914e-09	1	0	T	105473172	G	T	105473172	3	4	408	1	0	0	0	0	1	0	0	0	12347	1203	42	4	1206	4	POU3F3	2	105473172	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2967786	105473172	137726201	472	78290											
POU3F3	5455	broad.mit.edu	37	chr2	105473289	105473289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagatcaccaacctggccGacagcctgcagctcgagaag	12	4	12	13	2	1	2	1	0	0	2	2	5	1	2	4	2	4	2	4	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:105473289G>A	ENST00000361360.2	+	1	1321	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	441					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAACCTGGCCGACAGCCTGCA	0.642													12	48					0	0	0	0	A	105473289	G	A	105473289	3	1	408	1	0	0	0	0	1	0	0	0	12347	1058	37	1	1323	1	POU3F3	2	105473289	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	117	105473289	137726084	473	78291											
MRPS9	64965	broad.mit.edu	37	chr2	105705511	105705512	+	Frame_Shift_Ins	INS	-	-	A																															agccaaaagtctgctcccagINSaaaaaactgtaaccaggtaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:105705511_105705512insA	ENST00000258455.3	+	6	669_670	c.559_560insA	c.(559-561)aaafs	p.K187fs		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	187					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTGCTCCCAGAAAAAACTGTA	0.317													17	61	---	---	---	---					A	105705512	-	A	105705511	7	5	408	1	0	1	1	0	0	0	0	0	9919	943	33	0	581	0	MRPS9	2	105705511	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	232222	105705511	137493862	474	78292											
NCK2	8440	broad.mit.edu	37	chr2	106497991	106497991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcatggagaagtgcaGcgacggttggtggcggggca	8	6	18	9	4	1	1	1	0	0	1	1	3	1	1	1	6	2	3	1	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:106497991G>A	ENST00000233154.4	+	4	876	c.434G>A	c.(433-435)aGc>aAc	p.S145N	NCK2_ENST00000393349.2_Missense_Mutation_p.S145N|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	145	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GAGAAGTGCAGCGACGGTTGG	0.642													24	58					0	0	0	0	A	106497991	G	A	106497991	3	1	408	1	0	0	0	0	1	0	0	0	10290	971	34	4	440	4	NCK2	2	106497991	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	792480	106497991	136701382	475	78293											
NCK2	8440	broad.mit.edu	37	chr2	106509493	106509493	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacaaacacttcaaggTgcagctcgtggacaatgtct	14	8	10	9	1	2	1	1	0	1	1	3	3	2	2	0	2	4	2	0	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:106509493T>C	ENST00000233154.4	+	5	1446	c.1004T>C	c.(1003-1005)gTg>gCg	p.V335A	NCK2_ENST00000393349.2_Missense_Mutation_p.V335A|NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000451463.2_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	335	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CACTTCAAGGTGCAGCTCGTG	0.572													9	66					0	0	0	0	C	106509493	T	C	106509493	3	2	408	1	0	0	0	0	1	0	0	0	10290	1696	59	5	1014	5	NCK2	2	106509493	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	11502	106509493	136689880	476	78294											
RANBP2	5903	broad.mit.edu	37	chr2	109357008	109357008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactgtcagctactttCttagaaatgaaaggacattt	14	13	8	6	0	2	3	1	2	1	1	2	5	2	4	0	1	3	1	0	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:109357008C>A	ENST00000283195.6	+	7	972	c.846C>A	c.(844-846)ttC>ttA	p.F282L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	282					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGCTACTTTCTTAGAAATGA	0.378													86	299					7.49063e-41	7.94504e-41	1	0	A	109357008	C	A	109357008	3	1	408	1	0	0	0	0	1	0	0	0	13110	912	32	2	872	2	RANBP2	2	109357008	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2847515	109357008	133842365	477	78295											
EDAR	10913	broad.mit.edu	37	chr2	109526938	109526938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggtgggctttgctggagTtgctgtcagcttctcaaatt	5	16	12	8	0	2	0	2	0	1	0	3	1	2	1	0	3	3	5	0	3	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:109526938T>C	ENST00000409271.1	-	9	1320	c.877A>G	c.(877-879)Act>Gct	p.T293A	EDAR_ENST00000376651.1_Missense_Mutation_p.T293A|EDAR_ENST00000258443.2_Missense_Mutation_p.T261A			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	261					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TTTGCTGGAGTTGCTGTCAGC	0.557													7	33					0	0	0	0	C	109526938	T	C	109526938	3	2	408	1	0	0	0	0	1	0	0	0	4941	1725	60	5	581	5	EDAR	2	109526938	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	169930	109526938	133672435	478	78296											
MERTK	10461	broad.mit.edu	37	chr2	112779062	112779062	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaagaagatttacagtggCgattattaccgccaaggccg	12	10	10	9	3	1	2	0	0	1	2	1	3	1	2	3	2	2	0	3	2	6	5	rs149178674		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:112779062C>T	ENST00000295408.4	+	17	2510	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	MERTK_ENST00000409780.1_Silent_p.G575G|MERTK_ENST00000421804.2_Silent_p.G751G			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	751	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G751G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTACAGTGGCGATTATTACC	0.478													40	100					0	0	0	0	T	112779062	C	T	112779062	2	4	408	1	0	0	0	0	0	0	0	1	9548	755	27	1		1	MERTK	2	112779062	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3252124	112779062	130420311	479	78297											
POLR1B	84172	broad.mit.edu	37	chr2	113332545	113332545	+	Frame_Shift_Del	DEL	T	T	-																															acccaactatcggagataaaTttgccagtcgccatgggcag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:113332545delT	ENST00000263331.5	+	15	3227	c.2647delT	c.(2647-2649)ttfs	p.F883fs	POLR1B_ENST00000409894.3_Frame_Shift_Del_p.F700fs|POLR1B_ENST00000417433.2_Frame_Shift_Del_p.F827fs|POLR1B_ENST00000537335.1_Frame_Shift_Del_p.F672fs|POLR1B_ENST00000541869.1_Frame_Shift_Del_p.F921fs	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	883					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CGGAGATAAATTTGCCAGTCG	0.473													45	144	---	---	---	---					-	113332545	T	-	113332545	7	5	408	1	0	1	0	1	0	0	0	0	12282	1493	52	0	2705	0	POLR1B	2	113332545	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	553483	113332545	129866828	480	78298											
CCDC93	54520	broad.mit.edu	37	chr2	118698771	118698771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgcacctactctggcGgtagagttcaataaatctct	11	12	8	10	1	4	1	2	0	2	1	5	1	4	1	1	2	2	3	1	2	6	4	rs148434878		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:118698771G>A	ENST00000376300.2	-	19	1653	c.1516C>T	c.(1516-1518)Cgc>Tgc	p.R506C	CCDC93_ENST00000319432.5_Missense_Mutation_p.R505C	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	506										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTACTCTGGCGGTAGAGTTCA	0.498													17	55					0	0	0	0	A	118698771	G	A	118698771	3	1	408	1	0	0	0	0	1	0	0	0	2899	1116	39	1	403	1	CCDC93	2	118698771	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5366226	118698771	124500602	481	78299											
CCDC93	54520	broad.mit.edu	37	chr2	118698847	118698847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcaatcttgcggtgcaaAattgctatttctcgatttct	9	17	6	9	2	5	0	2	0	3	0	6	1	5	0	0	1	3	2	0	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:118698847A>G	ENST00000376300.2	-	19	1577	c.1440T>C	c.(1438-1440)atT>atC	p.I480I	CCDC93_ENST00000319432.5_Silent_p.I479I	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	480										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TGCGGTGCAAAATTGCTATTT	0.428													16	70					0	0	0	0	G	118698847	A	G	118698847	2	3	408	1	0	0	0	0	0	0	0	1	2899	10	1	5		5	CCDC93	2	118698847	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	76	118698847	124500526	482	78300											
EN1	2019	broad.mit.edu	37	chr2	119600542	119600542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtctttgtcctggaccGtggtggtggagtggttgtac	3	15	15	8	2	2	0	0	0	2	0	4	2	3	2	2	5	1	2	2	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:119600542G>A	ENST00000295206.6	-	2	1661	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	384					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTCCTGGACCGTGGTGGTGGA	0.687													13	56					0	0	0	0	A	119600542	G	A	119600542	3	1	408	1	0	0	0	0	1	0	0	0	5147	1145	40	1	31	1	EN1	2	119600542	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	901695	119600542	123598831	483	78301											
EPB41L5	57669	broad.mit.edu	37	chr2	120903814	120903814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaggttacaaaagaagAtagcttattaagtcataaaa	18	13	6	4	0	2	2	1	0	1	2	2	2	2	2	0	1	2	2	0	1	10	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:120903814A>G	ENST00000263713.5	+	20	1956	c.1742A>G	c.(1741-1743)gAt>gGt	p.D581G	EPB41L5_ENST00000443902.2_Missense_Mutation_p.D581G|EPB41L5_ENST00000452780.1_Missense_Mutation_p.D581G	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	581						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ACAAAAGAAGATAGCTTATTA	0.294													7	19					0	0	0	0	G	120903814	A	G	120903814	3	3	408	1	0	0	0	0	1	0	0	0	5195	333	12	5	2001	5	EPB41L5	2	120903814	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1303272	120903814	122295559	484	78302											
INHBB	3625	broad.mit.edu	37	chr2	121106804	121106804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtcctggagaagggcaGccggcggaaggtgcgggtca	8	5	18	10	4	1	1	1	0	0	1	2	3	2	2	2	6	3	1	2	6	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:121106804G>A	ENST00000295228.3	+	2	624	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	193					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GAGAAGGGCAGCCGGCGGAAG	0.592													29	89					0	0	0	0	A	121106804	G	A	121106804	3	1	408	1	0	0	0	0	1	0	0	0	7795	971	34	4	584	4	INHBB	2	121106804	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	202990	121106804	122092569	485	78303											
INHBB	3625	broad.mit.edu	37	chr2	121107281	121107281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctcctccttccacaCggctgtggtgaaccagtacc	6	10	8	17	1	1	1	0	1	1	0	4	1	4	1	6	2	3	2	6	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:121107281C>T	ENST00000295228.3	+	2	1101	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	352					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCTTCCACACGGCTGTGGTG	0.622													26	65					0	0	0	0	T	121107281	C	T	121107281	3	4	408	1	0	0	0	0	1	0	0	0	7795	536	19	1	1061	1	INHBB	2	121107281	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	477	121107281	122092092	486	78304											
PROC	5624	broad.mit.edu	37	chr2	128180493	128180493	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccgctctctccgcagCtggccttctggtccaagcac	4	9	10	18	2	2	0	0	0	2	0	5	0	4	0	4	2	3	5	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:128180493C>T	ENST00000453608.2	+	4	309	c.300_splice	c.e4-1	p.L101_splice	PROC_ENST00000409048.1_Splice_Site_p.L80_splice|PROC_ENST00000422777.3_Splice_Site_p.L80_splice|PROC_ENST00000234071.3_Splice_Site_p.L80_splice			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	80	EGF-like 1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTCTCCGCAGCTGGCCTTCTG	0.741													3	6					0	0	0	0	T	128180493	C	T	128180493	5	4	408	1	0	0	0	0	0	0	1	0	12625	811	28	4	248	4	PROC	2	128180493	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	7073212	128180493	115018880	487	78305											
WDR33	55339	broad.mit.edu	37	chr2	128482686	128482686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaagctcttcttttaggtTtctgatatcaaaaagtttac	11	18	6	6	0	4	2	1	2	3	0	4	2	4	2	0	1	2	3	0	1	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:128482686T>C	ENST00000322313.4	-	9	1113	c.955A>G	c.(955-957)Aac>Gac	p.N319D		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	319					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCTTTTAGGTTTCTGATATCA	0.398													20	41					0	0	0	0	C	128482686	T	C	128482686	3	2	408	1	0	0	0	0	1	0	0	0	17383	1841	64	5	3111	5	WDR33	2	128482686	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	302193	128482686	114716687	488	78306											
SMPD4	55627	broad.mit.edu	37	chr2	130913672	130913672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtcaggcgcgtaccGccacggctgcaggtagctca	6	8	13	14	4	2	0	2	0	0	0	2	0	2	0	2	3	4	6	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:130913672G>A	ENST00000409031.1	-	14	2490	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	SMPD4_ENST00000453750.1_Missense_Mutation_p.R197W|SMPD4_ENST00000339679.7_Missense_Mutation_p.R306W|SMPD4_ENST00000426662.2_Missense_Mutation_p.R84W|SMPD4_ENST00000351288.6_Missense_Mutation_p.R419W|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000452225.2_Missense_Mutation_p.R189W|SMPD4_ENST00000443958.2_Missense_Mutation_p.R112W|SMPD4_ENST00000431183.2_Missense_Mutation_p.R346W	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	409					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGCGCGTACCGCCACGGCTGC	0.657													22	56					0	0	0	0	A	130913672	G	A	130913672	3	1	408	1	0	0	0	0	1	0	0	0	14895	1086	38	1	1286	1	SMPD4	2	130913672	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2430986	130913672	112285701	489	78307											
SMPD4	55627	broad.mit.edu	37	chr2	130925042	130925042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactctcacctggagcagagTttctgacctccagatctcgt	9	11	8	13	1	3	3	1	1	3	2	6	4	4	4	3	1	2	2	3	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:130925042T>C	ENST00000409031.1	-	9	2046	c.898A>G	c.(898-900)Act>Gct	p.T300A	SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.T187A|SMPD4_ENST00000426662.2_Silent_p.K13K|SMPD4_ENST00000351288.6_Missense_Mutation_p.T300A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000452225.2_Silent_p.K13K|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.T227A	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	261					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TGGAGCAGAGTTTCTGACCTC	0.552													23	72					0	0	0	0	C	130925042	T	C	130925042	3	2	408	1	0	0	0	0	1	0	0	0	14895	1725	60	5	1750	5	SMPD4	2	130925042	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	11370	130925042	112274331	490	78308											
TUBA3E	112714	broad.mit.edu	37	chr2	130949633	130949633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgctcagcatgcacAcggcccgctgcaccttggcc	5	9	12	15	2	1	0	1	0	0	0	1	0	1	0	3	3	4	6	3	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:130949633A>G	ENST00000312988.7	-	5	1224	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	375					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGCATGCACACGGCCCGCTG	0.612													5	128					0	0	0	0	G	130949633	A	G	130949633	3	3	408	1	0	0	0	0	1	0	0	0	16844	159	6	5	232	5	TUBA3E	2	130949633	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	24591	130949633	112249740	491	78309											
PTPN18	26469	broad.mit.edu	37	chr2	131129859	131129859	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccgggtccccgggccAcgccatggctgacacctacg	5	6	13	17	4	0	1	0	1	0	0	1	1	1	1	6	3	2	1	6	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:131129859A>G	ENST00000175756.5	+	13	1144	c.1043A>G	c.(1042-1044)cAc>cGc	p.H348R	PTPN18_ENST00000347849.3_Missense_Mutation_p.H241R	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	348						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCCCCGGGCCACGCCATGGCT	0.756													3	20					0	0	0	0	G	131129859	A	G	131129859	3	3	408	1	0	0	0	0	1	0	0	0	12864	159	6	5	1093	5	PTPN18	2	131129859	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	180226	131129859	112069514	492	78310											
ZRANB3	84083	broad.mit.edu	37	chr2	135988280	135988280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttccgacggactgcagTggtcttccgaggcagccaat	7	10	11	13	3	2	0	0	0	2	0	5	3	4	1	3	3	2	2	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:135988280T>C	ENST00000401392.1	-	13	1969	c.1757A>G	c.(1756-1758)cAc>cGc	p.H586R	ZRANB3_ENST00000536680.1_Missense_Mutation_p.H586R|ZRANB3_ENST00000264159.6_Missense_Mutation_p.H586R|ZRANB3_ENST00000412849.1_5'UTR			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	586						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CGGACTGCAGTGGTCTTCCGA	0.493													39	127					0	0	0	0	C	135988280	T	C	135988280	3	2	408	1	0	0	0	0	1	0	0	0	18317	1696	59	5	1518	5	ZRANB3	2	135988280	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4858421	135988280	107211093	493	78311											
R3HDM1	23518	broad.mit.edu	37	chr2	136379096	136379096	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagttaacacaatcattTgagaaagaagagaagccctc	17	8	7	9	0	1	3	1	1	0	3	3	5	2	3	2	0	2	1	2	0	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:136379096T>C	ENST00000264160.4	+	6	706	c.336T>C	c.(334-336)ttT>ttC	p.F112F	R3HDM1_ENST00000409606.1_Silent_p.F112F|R3HDM1_ENST00000409478.1_Silent_p.F68F|R3HDM1_ENST00000329971.3_Silent_p.F68F|R3HDM1_ENST00000410054.1_Silent_p.F56F	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	112							nucleic acid binding			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)		CACAATCATTTGAGAAAGAAG	0.328													3	21					0	0	0	0	C	136379096	T	C	136379096	2	2	408	1	0	0	0	0	0	0	0	1	12969	1809	63	5		5	R3HDM1	2	136379096	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	390816	136379096	106820277	494	78312											
R3HDM1	23518	broad.mit.edu	37	chr2	136402990	136402990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggagtccagttgtgtatAatcctcctatgactcaacaa	12	12	8	9	0	1	1	1	1	0	0	4	2	4	2	3	1	1	2	3	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:136402990A>G	ENST00000264160.4	+	16	1886	c.1516A>G	c.(1516-1518)Aat>Gat	p.N506D	R3HDM1_ENST00000409606.1_Missense_Mutation_p.N506D|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409478.1_Missense_Mutation_p.N377D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N377D|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N450D	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	506							nucleic acid binding			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)		AGTTGTGTATAATCCTCCTAT	0.448													9	123					0	0	0	0	G	136402990	A	G	136402990	3	3	408	1	0	0	0	0	1	0	0	0	12969	362	13	5	1570	5	R3HDM1	2	136402990	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	23894	136402990	106796383	495	78313											
LCT	3938	broad.mit.edu	37	chr2	136566157	136566157	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagttcagcagccttcGcgtcccccagggcgcagctc	6	7	11	17	3	1	0	1	0	0	0	5	1	3	0	4	1	3	4	4	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:136566157G>A	ENST00000264162.2	-	8	3770	c.3760C>T	c.(3760-3762)Cga>Tga	p.R1254*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1254	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAGCCTTCGCGTCCCCCAG	0.572													33	116					0	0	0	0	A	136566157	G	A	136566157	4	1	408	1	0	0	0	0	0	1	0	0	8746	1095	38	1	2063	1	LCT	2	136566157	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	163167	136566157	106633216	496	78314											
LCT	3938	broad.mit.edu	37	chr2	136575315	136575315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacgtcagaggctacctTgtggtaactgtcgctggcca	7	9	14	11	3	1	1	1	0	0	1	2	2	1	1	2	4	2	3	2	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:136575315T>C	ENST00000264162.2	-	6	1313	c.1303A>G	c.(1303-1305)Aag>Gag	p.K435E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	435	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCTACCTTGTGGTAACTG	0.652													40	109					0	0	0	0	C	136575315	T	C	136575315	3	2	408	1	0	0	0	0	1	0	0	0	8746	1821	63	5	4528	5	LCT	2	136575315	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9158	136575315	106624058	497	78315											
LRP1B	53353	broad.mit.edu	37	chr2	141607801	141607801	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtaacgtcatcaatatcAgggactgtaaatgccgtgat	14	10	9	8	2	3	1	3	1	0	0	3	2	3	2	1	1	2	2	1	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:141607801A>G	ENST00000389484.3	-	29	5780	c.4809T>C	c.(4807-4809)ccT>ccC	p.P1603P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1603					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCAATATCAGGGACTGTAA	0.348										TSP Lung(27;0.18)			19	49					0	0	0	0	G	141607801	A	G	141607801	2	3	408	1	0	0	0	0	0	0	0	1	9019	175	7	5		5	LRP1B	2	141607801	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5032486	141607801	101591572	498	78316											
LRP1B	53353	broad.mit.edu	37	chr2	141643877	141643877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatctcatgacgaataGaaaagatgatgaatgcttca	15	12	8	6	1	3	6	2	4	2	2	4	7	3	6	0	0	1	1	0	0	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:141643877G>T	ENST00000389484.3	-	24	4765	c.3794C>A	c.(3793-3795)tCt>tAt	p.S1265Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1265					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGACGAATAGAAAAGATGAT	0.308										TSP Lung(27;0.18)			14	34					0.000219431	0.000222589	1	0	T	141643877	G	T	141643877	3	4	408	1	0	0	0	0	1	0	0	0	9019	942	33	2	10277	2	LRP1B	2	141643877	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	36076	141643877	101555496	499	78317											
EPC2	26122	broad.mit.edu	37	chr2	149511679	149511679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttgcctttcggagaagaAcagagaaaatgcaaactcga	16	8	10	7	2	0	3	0	0	0	3	2	6	0	3	1	1	4	2	1	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:149511679A>G	ENST00000258484.6	+	4	677	c.643A>G	c.(643-645)Aca>Gca	p.T215A		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	215					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCGGAGAAGAACAGAGAAAAT	0.368													5	13					0	0	0	0	G	149511679	A	G	149511679	3	3	408	1	0	0	0	0	1	0	0	0	5199	43	2	5	657	5	EPC2	2	149511679	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7867802	149511679	93687694	500	78318											
RND3	390	broad.mit.edu	37	chr2	151328152	151328152	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacatacctggtcataggAcactggcgtctgcctgtgat	9	11	10	11	1	2	1	1	1	1	0	2	2	2	2	2	3	3	0	2	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:151328152A>T	ENST00000375734.2	-	4	721	c.472T>A	c.(472-474)Tcc>Acc	p.S158T	RND3_ENST00000472416.1_5'UTR|RND3_ENST00000409557.1_Missense_Mutation_p.S29T|RND3_ENST00000263895.4_Missense_Mutation_p.S158T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	158					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGGTCATAGGACACTGGCGTC	0.403													22	89					0	0	0	0	T	151328152	A	T	151328152	3	4	408	1	0	0	0	0	1	0	0	0	13506	275	10	5	270	5	RND3	2	151328152	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1816473	151328152	91871221	501	78319											
RIF1	55183	broad.mit.edu	37	chr2	152318798	152318798	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataatctggatgtttcccaAgataccttatttactcagta	13	15	5	8	0	2	1	1	0	1	1	3	2	3	2	2	1	2	2	2	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152318798A>C	ENST00000243326.4	+	27	3753	c.3270A>C	c.(3268-3270)caA>caC	p.Q1090H	RIF1_ENST00000444746.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000430328.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000453091.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000428287.2_Missense_Mutation_p.Q1090H			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1090					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGTTTCCCAAGATACCTTAT	0.284													14	45					0	0	0	0	C	152318798	A	C	152318798	3	2	408	1	0	0	0	0	1	0	0	0	13442	69	3	5	3376	5	RIF1	2	152318798	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	990646	152318798	90880575	502	78320											
NEB	4703	broad.mit.edu	37	chr2	152417174	152417174	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaggcaggatgtagcTggtggctttcactctatccc	7	11	13	10	0	2	0	1	0	1	0	3	2	3	2	1	5	1	5	1	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152417174T>C	ENST00000427231.2	-	124	19448	c.19246A>G	c.(19246-19248)Agc>Ggc	p.S6416G	NEB_ENST00000604864.1_Missense_Mutation_p.S6416G|NEB_ENST00000409198.1_Missense_Mutation_p.S4715G|NEB_ENST00000397345.3_Missense_Mutation_p.S6416G|NEB_ENST00000172853.10_Missense_Mutation_p.S4715G|NEB_ENST00000603639.1_Missense_Mutation_p.S6416G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6415					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGATGTAGCTGGTGGCTTTC	0.478													8	16					0	0	0	0	C	152417174	T	C	152417174	3	2	408	1	0	0	0	0	1	0	0	0	10372	1580	55	5	6676	5	NEB	2	152417174	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	98376	152417174	90782199	503	78321											
NEB	4703	broad.mit.edu	37	chr2	152419202	152419202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacgtccactggtggaaatAgtgtcgatactccaggtcac	11	9	11	10	2	1	1	1	0	0	1	4	3	3	2	2	3	1	0	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152419202A>G	ENST00000427231.2	-	120	19016	c.18814T>C	c.(18814-18816)Tat>Cat	p.Y6272H	NEB_ENST00000604864.1_Missense_Mutation_p.Y6272H|NEB_ENST00000409198.1_Missense_Mutation_p.Y4571H|NEB_ENST00000397345.3_Missense_Mutation_p.Y6272H|NEB_ENST00000172853.10_Missense_Mutation_p.Y4571H|NEB_ENST00000603639.1_Missense_Mutation_p.Y6272H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6281					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTGGAAATAGTGTCGATAC	0.473													8	22					0	0	0	0	G	152419202	A	G	152419202	3	3	408	1	0	0	0	0	1	0	0	0	10372	420	15	5	7124	5	NEB	2	152419202	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2028	152419202	90780171	504	78322											
NEB	4703	broad.mit.edu	37	chr2	152466344	152466345	+	Frame_Shift_Ins	INS	-	-	T																															cactctgcaggtcataggccINSttttttgcttggataatgtc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152466344_152466345insT	ENST00000397345.3	-	81	12510_12511	c.12308_12309insA	c.(12307-12309)agcfs	p.S4103fs	NEB_ENST00000604864.1_Frame_Shift_Ins_p.S4103fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.S3860fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.S4103fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.S3860fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.S4103fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4102					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTCATAGGCCTTTTTTGCTTG	0.446													47	148	---	---	---	---					T	152466345	-	T	152466344	7	5	408	1	0	1	1	0	0	0	0	0	10372	680	24	0	13785	0	NEB	2	152466344	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	47142	152466344	90733029	505	78323											
NEB	4703	broad.mit.edu	37	chr2	152467061	152467062	+	Frame_Shift_Ins	INS	-	-	T																															gtccctggaggccttggcacINSttttgatggaaatagcatct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152467061_152467062insT	ENST00000397345.3	-	80	12188_12189	c.11986_11987insA	c.(11986-11988)tgcfs	p.C3996fs	NEB_ENST00000604864.1_Frame_Shift_Ins_p.C3996fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.C3753fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.C3996fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.C3753fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.C3996fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3995					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTGGCACTTTTGATGGAA	0.49													61	177	---	---	---	---					T	152467062	-	T	152467061	7	5	408	1	0	1	1	0	0	0	0	0	10372	565	20	0	14111	0	NEB	2	152467061	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	717	152467061	90732312	506	78324											
NEB	4703	broad.mit.edu	37	chr2	152536301	152536301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagttctcaggtcataTcccttcttgctcaagtcttt	7	16	6	12	0	6	0	4	0	3	0	8	0	7	0	1	1	1	3	1	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152536301T>C	ENST00000427231.2	-	32	3391	c.3189A>G	c.(3187-3189)ggA>ggG	p.G1063G	NEB_ENST00000604864.1_Silent_p.G1063G|NEB_ENST00000409198.1_Silent_p.G1063G|NEB_ENST00000397345.3_Silent_p.G1063G|NEB_ENST00000172853.10_Silent_p.G1063G|NEB_ENST00000603639.1_Silent_p.G1063G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1063					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAGGTCATATCCCTTCTTGC	0.448													29	95					0	0	0	0	C	152536301	T	C	152536301	2	2	408	1	0	0	0	0	0	0	0	1	10372	1422	50	5		5	NEB	2	152536301	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	69240	152536301	90663072	507	78325											
KCNJ3	3760	broad.mit.edu	37	chr2	155711673	155711673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaactcagaagaaaaactgGtatctaaaaccaccaagatg	19	6	7	9	0	2	3	1	0	1	3	2	3	2	3	2	1	3	2	2	1	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:155711673G>A	ENST00000295101.2	+	3	1831	c.1354G>A	c.(1354-1356)Gta>Ata	p.V452I		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	452					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGAAAAACTGGTATCTAAAAC	0.453													24	69					0	0	0	0	A	155711673	G	A	155711673	3	1	408	1	0	0	0	0	1	0	0	0	8105	1261	44	4	1364	4	KCNJ3	2	155711673	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3175372	155711673	87487700	508	78326											
GPD2	2820	broad.mit.edu	37	chr2	157406154	157406154	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggatgaaccttgccatTgctctgactgctgccaggta	8	10	11	12	1	1	2	0	2	1	0	1	3	1	3	3	2	5	4	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:157406154T>C	ENST00000310454.6	+	7	1068	c.696T>C	c.(694-696)atT>atC	p.I232I	GPD2_ENST00000540309.1_Silent_p.I232I|GPD2_ENST00000438166.2_Silent_p.I232I|GPD2_ENST00000409674.1_Silent_p.I232I|GPD2_ENST00000409125.4_Silent_p.I5I	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	232					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACCTTGCCATTGCTCTGACTG	0.552													16	83					0	0	0	0	C	157406154	T	C	157406154	2	2	408	1	0	0	0	0	0	0	0	1	6655	1800	63	5		5	GPD2	2	157406154	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1694481	157406154	85793219	509	78327											
TANC1	85461	broad.mit.edu	37	chr2	160028677	160028677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcactccgttgctttcacCgagttcttccacaagtgctt	6	16	6	13	2	3	0	2	0	1	0	5	1	5	0	3	0	2	4	3	0	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:160028677C>A	ENST00000263635.6	+	11	1634	c.1397C>A	c.(1396-1398)cCg>cAg	p.P466Q	TANC1_ENST00000454300.1_Missense_Mutation_p.P360Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	466						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTGCTTTCACCGAGTTCTTCC	0.473													14	65					9.16793e-09	9.46157e-09	1	0	A	160028677	C	A	160028677	3	1	408	1	0	0	0	0	1	0	0	0	15635	652	23	3	1431	3	TANC1	2	160028677	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2622523	160028677	83170696	510	78328											
RBMS1	5937	broad.mit.edu	37	chr2	161159980	161159980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attagaaatgtagaggttggTaggatcttgttcctgttgct	9	16	12	4	0	1	2	0	0	1	2	2	3	2	3	1	3	1	6	1	3	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:161159980T>C	ENST00000348849.3	-	5	851	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	RBMS1_ENST00000409289.2_Missense_Mutation_p.T108A|RBMS1_ENST00000409075.1_Missense_Mutation_p.T108A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T108A|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.T141A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	141	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TAGAGGTTGGTAGGATCTTGT	0.358													25	95					0	0	0	0	C	161159980	T	C	161159980	3	2	408	1	0	0	0	0	1	0	0	0	13230	1638	57	5	835	5	RBMS1	2	161159980	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1131303	161159980	82039393	511	78329											
SLC4A10	57282	broad.mit.edu	37	chr2	162751202	162751202	+	Frame_Shift_Del	DEL	T	T	-																															tctaaaggtatttcatgatgTtgcctataaagctaaagatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:162751202delT	ENST00000375514.5	+	11	1438	c.1151delT	c.(1150-1152)gtfs	p.V384fs	SLC4A10_ENST00000446997.1_Frame_Shift_Del_p.V403fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.V403fs|SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.V373fs|SLC4A10_ENST00000535165.1_Frame_Shift_Del_p.L374fs|SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.V373fs|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	403					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTCATGATGTTGCCTATAAA	0.318													15	23	---	---	---	---					-	162751202	T	-	162751202	7	5	408	1	0	1	0	1	0	0	0	0	14739	1725	60	0	1335	0	SLC4A10	2	162751202	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1591222	162751202	80448171	512	78330											
DPP4	1803	broad.mit.edu	37	chr2	162902056	162902056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaccttcacgtagttgtAttctaagagaataaactgcc	12	15	6	8	1	2	1	1	0	1	1	2	2	2	1	2	0	3	3	2	0	7	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:162902056A>G	ENST00000360534.3	-	5	912	c.352T>C	c.(352-354)Tac>Cac	p.Y118H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	118					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ACGTAGTTGTATTCTAAGAGA	0.303													12	53					0	0	0	0	G	162902056	A	G	162902056	3	3	408	1	0	0	0	0	1	0	0	0	4765	449	16	5	2036	5	DPP4	2	162902056	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	150854	162902056	80297317	513	78331											
FAP	2191	broad.mit.edu	37	chr2	163057115	163057115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggtattcttcaaattcaTtgctagaataaaacctgaaa	16	12	6	7	0	3	2	2	1	1	1	3	2	3	2	1	1	2	2	1	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:163057115T>C	ENST00000188790.4	-	15	1445	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	FAP_ENST00000443424.1_Missense_Mutation_p.N388S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	413					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTCAAATTCATTGCTAGAATA	0.234													9	18					0	0	0	0	C	163057115	T	C	163057115	3	2	408	1	0	0	0	0	1	0	0	0	5718	1493	52	5	1092	5	FAP	2	163057115	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	155059	163057115	80142258	514	78332											
SCN3A	6328	broad.mit.edu	37	chr2	165947362	165947362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttctccaggatgaccgcGatgtacatgttcaccacaac	12	9	8	12	2	2	1	1	1	1	0	3	3	2	2	3	1	2	3	3	1	3	3	rs138863451	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:165947362G>A	ENST00000360093.3	-	28	5792	c.5301C>T	c.(5299-5301)atC>atT	p.I1767I	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Silent_p.I1718I|SCN3A_ENST00000283254.7_Silent_p.I1767I|SCN3A_ENST00000540861.1_Silent_p.I250I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1767						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGATGACCGCGATGTACATGT	0.453													9	197					0	0	0	0	A	165947362	G	A	165947362	2	1	408	1	0	0	0	0	0	0	0	1	14005	1048	37	1		1	SCN3A	2	165947362	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2890247	165947362	77252011	515	78333											
SCN2A	6326	broad.mit.edu	37	chr2	166164384	166164384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatgctcattatgtgcaCgattcttaccaactgtgtat	11	15	6	9	1	2	0	1	0	1	0	2	1	2	0	1	0	4	3	1	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:166164384C>T	ENST00000357398.3	+	4	703	c.413C>T	c.(412-414)aCg>aTg	p.T138M	SCN2A_ENST00000375427.2_Missense_Mutation_p.T138M|SCN2A_ENST00000375437.2_Missense_Mutation_p.T138M|SCN2A_ENST00000283256.6_Missense_Mutation_p.T138M			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	138					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTATGTGCACGATTCTTACC	0.353													39	169					0	0	0	0	T	166164384	C	T	166164384	3	4	408	1	0	0	0	0	1	0	0	0	14003	536	19	1	423	1	SCN2A	2	166164384	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	217022	166164384	77034989	516	78334											
SCN9A	6335	broad.mit.edu	37	chr2	167055439	167055439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgacattttgccttaagcGgtaacgtctataagcacgct	10	14	8	9	3	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:167055439G>A	ENST00000375387.4	-	27	6053	c.5713C>T	c.(5713-5715)Cgc>Tgc	p.R1905C	SCN9A_ENST00000303354.6_Missense_Mutation_p.R1905C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1904C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1893C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1904	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCCTTAAGCGGTAACGTCTA	0.353													30	135					0	0	0	0	A	167055439	G	A	167055439	3	1	408	1	0	0	0	0	1	0	0	0	14012	1116	39	1	260	1	SCN9A	2	167055439	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	891055	167055439	76143934	517	78335											
XIRP2	129446	broad.mit.edu	37	chr2	168101908	168101908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctatcatgaagtgaccAcagttaaaaaagaagaggta	17	8	10	6	0	1	4	1	2	0	2	2	4	2	4	2	2	0	2	2	2	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:168101908A>G	ENST00000409195.1	+	9	4095	c.4006A>G	c.(4006-4008)Aca>Gca	p.T1336A	XIRP2_ENST00000409273.1_Missense_Mutation_p.T1114A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1336A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1161					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAGTGACCACAGTTAAAAA	0.388													4	81					0	0	0	0	G	168101908	A	G	168101908	3	3	408	1	0	0	0	0	1	0	0	0	17526	159	6	5	4036	5	XIRP2	2	168101908	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1046469	168101908	75097465	518	78336											
XIRP2	129446	broad.mit.edu	37	chr2	168105300	168105300	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaggatcagaaaaaagtAatggtgatgaccagcagtga	18	7	11	5	0	2	4	2	3	0	1	2	5	2	5	1	2	1	2	1	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:168105300A>G	ENST00000409195.1	+	9	7487	c.7398A>G	c.(7396-7398)gtA>gtG	p.V2466V	XIRP2_ENST00000409273.1_Silent_p.V2244V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2466V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2291					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAAAAAGTAATGGTGATGA	0.368													10	90					0	0	0	0	G	168105300	A	G	168105300	2	3	408	1	0	0	0	0	0	0	0	1	17526	349	13	5		5	XIRP2	2	168105300	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3392	168105300	75094073	519	78337											
B3GALT1	8708	broad.mit.edu	37	chr2	168726367	168726367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatgtgggactgtgtcttcGaaagctgggcatacatcctt	9	13	11	8	1	1	0	0	0	1	0	3	2	2	1	1	2	2	2	1	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:168726367G>A	ENST00000305861.1	+	2	1169	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R273Q	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	273					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTGTCTTCGAAAGCTGGGC	0.468													19	67					0	0	0	0	A	168726367	G	A	168726367	3	1	408	1	0	0	0	0	1	0	0	0	1251	1058	37	1	820	1	B3GALT1	2	168726367	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	621067	168726367	74473006	520	78338											
NOSTRIN	115677	broad.mit.edu	37	chr2	169718498	169718498	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccagctcagcagcagActttgcaaggccttgtattc	9	9	10	13	0	1	1	1	0	0	1	2	1	1	1	2	1	5	6	2	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:169718498A>G	ENST00000444448.2	+	18	1970	c.1494A>G	c.(1492-1494)agA>agG	p.R498R	NOSTRIN_ENST00000317647.7_Silent_p.R441R|NOSTRIN_ENST00000421711.2_Silent_p.R413R|NOSTRIN_ENST00000458381.2_Silent_p.R498R|NOSTRIN_ENST00000445023.2_Silent_p.R363R|NOSTRIN_ENST00000397206.2_Silent_p.R363R|NOSTRIN_ENST00000397209.2_Silent_p.R413R			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	441					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TCAGCAGCAGACTTTGCAAGG	0.408													9	97					0	0	0	0	G	169718498	A	G	169718498	2	3	408	1	0	0	0	0	0	0	0	1	10616	272	10	5		5	NOSTRIN	2	169718498	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	992131	169718498	73480875	521	78339											
G6PC2	57818	broad.mit.edu	37	chr2	169764399	169764399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactacacactgagcttccGgttgctctgtgccttgacct	7	13	8	13	1	1	2	0	2	1	0	2	2	2	2	3	1	5	3	3	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:169764399G>A	ENST00000375363.3	+	5	970	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	293					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CTGAGCTTCCGGTTGCTCTGT	0.483													8	204					0	0	0	0	A	169764399	G	A	169764399	3	1	408	1	0	0	0	0	1	0	0	0	6192	1116	39	1	896	1	G6PC2	2	169764399	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	45901	169764399	73434974	522	78340											
ABCB11	8647	broad.mit.edu	37	chr2	169847374	169847374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgatgaaatgacttcaTcagccaccacccctgctttg	10	12	6	13	0	3	3	3	3	0	0	3	3	3	3	4	0	2	1	4	0	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:169847374T>C	ENST00000263817.6	-	9	969	c.845A>G	c.(844-846)gAt>gGt	p.D282G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	282	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AATGACTTCATCAGCCACCAC	0.398													29	285					0	0	0	0	C	169847374	T	C	169847374	3	2	408	1	0	0	0	0	1	0	0	0	42	1435	50	5	3200	5	ABCB11	2	169847374	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	82975	169847374	73351999	523	78341											
LRP2	4036	broad.mit.edu	37	chr2	170058296	170058296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcactgccatcaccacagTcattgtagtaatcacagcgg	12	9	7	13	1	4	0	4	0	0	0	4	0	4	0	2	1	2	2	2	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:170058296T>C	ENST00000263816.3	-	44	8579	c.8294A>G	c.(8293-8295)gAc>gGc	p.D2765G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2765	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCACCACAGTCATTGTAGTA	0.498													26	60					0	0	0	0	C	170058296	T	C	170058296	3	2	408	1	0	0	0	0	1	0	0	0	9020	1667	58	5	5817	5	LRP2	2	170058296	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	210922	170058296	73141077	524	78342											
ITGA6	3655	broad.mit.edu	37	chr2	173344436	173344436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaattgacctccgccagAaaacagcgtgtggggcgcct	11	6	12	12	3	0	3	0	1	0	2	1	3	1	3	4	2	2	0	4	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:173344436A>G	ENST00000375221.2	+	11	1776	c.1573A>G	c.(1573-1575)Aaa>Gaa	p.K525E	ITGA6_ENST00000264106.6_Missense_Mutation_p.K525E|ITGA6_ENST00000409532.1_Missense_Mutation_p.K367E|ITGA6_ENST00000343713.4_Missense_Mutation_p.K481E|ITGA6_ENST00000409080.1_Missense_Mutation_p.K486E|ITGA6_ENST00000264107.7_Missense_Mutation_p.K486E			P23229	ITA6_HUMAN	integrin, alpha 6	525					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CCTCCGCCAGAAAACAGCGTG	0.488													71	234					0	0	0	0	G	173344436	A	G	173344436	3	3	408	1	0	0	0	0	1	0	0	0	7933	247	9	5	1494	5	ITGA6	2	173344436	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3286140	173344436	69854937	525	78343											
ZAK	51776	broad.mit.edu	37	chr2	174130844	174130844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccaacacttctttacagcGttcccagagcaatcctattc	11	12	4	14	1	1	1	0	0	1	1	5	1	4	1	3	0	4	2	3	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:174130844G>A	ENST00000375213.3	+	20	1847	c.1769G>A	c.(1768-1770)cGt>cAt	p.R590H	MLTK_ENST00000409176.2_Missense_Mutation_p.R590H|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2												p.R590H(1)									TCTTTACAGCGTTCCCAGAGC	0.512													6	19					0	0	0	0	A	174130844	G	A	174130844	3	1	408	1	0	0	0	0	1	0	0	0	17608	1145	40	1	2228	1	ZAK	2	174130844	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	786408	174130844	69068529	526	78344											
SP3	6670	broad.mit.edu	37	chr2	174777830	174777830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgcctctgtaattcaTcacttcgagtaaatctttta	9	18	5	9	1	5	0	2	0	3	0	6	1	5	0	1	0	1	2	1	0	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:174777830T>C	ENST00000310015.6	-	6	2527	c.1997A>G	c.(1996-1998)gAt>gGt	p.D666G	SP3_ENST00000418194.2_Missense_Mutation_p.D598G|SP3_ENST00000455789.2_Missense_Mutation_p.D613G	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	666					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTAATTCATCACTTCGAGT	0.393													15	54					0	0	0	0	C	174777830	T	C	174777830	3	2	408	1	0	0	0	0	1	0	0	0	15053	1435	50	5	356	5	SP3	2	174777830	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	646986	174777830	68421543	527	78345											
CIR1	9541	broad.mit.edu	37	chr2	175213789	175213789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaggaggaggaggaGgaagatgaggaagaagagga	18	1	22	0	0	0	5	0	1	0	4	0	14	0	13	0	8	0	0	0	8	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:175213789G>A	ENST00000342016.3	-	10	881	c.789C>T	c.(787-789)tcC>tcT	p.S263S	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	263	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						aggaggaggaggaagatgagg	0.338													4	14					0	0	0	0	A	175213789	G	A	175213789	2	1	408	1	0	0	0	0	0	0	0	1	3461	987	35	4		4	CIR1	2	175213789	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	435959	175213789	67985584	528	78346											
WIPF1	7456	broad.mit.edu	37	chr2	175436854	175436854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcccaaagcagtgcCgcggtttccagggaaagggg	8	6	14	13	2	0	0	0	0	0	0	3	1	3	1	5	4	2	2	5	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:175436854C>T	ENST00000392547.2	-	5	778	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	WIPF1_ENST00000392546.2_Missense_Mutation_p.G227S|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.G227S|WIPF1_ENST00000409415.3_Missense_Mutation_p.G227S|WIPF1_ENST00000272746.5_Missense_Mutation_p.G227S|WIPF1_ENST00000409891.1_Missense_Mutation_p.G227S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	227					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AAAGCAGTGCCGCGGTTTCCA	0.682													20	55					0	0	0	0	T	175436854	C	T	175436854	3	4	408	1	0	0	0	0	1	0	0	0	17463	652	23	1	848	1	WIPF1	2	175436854	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	223065	175436854	67762519	529	78347											
ATP5G3	518	broad.mit.edu	37	chr2	176043862	176043862	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactcctactgttgcagcAcctgcaccaataaatttggc	10	10	7	14	0	0	0	0	0	0	0	1	0	1	0	4	1	4	4	4	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:176043862A>G	ENST00000284727.4	-	4	3261	c.237T>C	c.(235-237)ggT>ggC	p.G79G	ATP5G3_ENST00000392541.3_Silent_p.G79G|ATP5G3_ENST00000409194.1_Silent_p.G79G	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	79					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTGTTGCAGCACCTGCACCAA	0.463													10	61					0	0	0	0	G	176043862	A	G	176043862	2	3	408	1	0	0	0	0	0	0	0	1	1159	146	6	5		5	ATP5G3	2	176043862	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	607008	176043862	67155511	530	78348											
HOXD12	3238	broad.mit.edu	37	chr2	176964654	176964654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggccgcgcttccccctaTctcctacccgcgcggcgcgc	2	8	11	20	7	1	0	0	0	1	0	3	0	2	0	5	2	1	2	5	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:176964654T>C	ENST00000406506.2	+	1	197	c.125T>C	c.(124-126)aTc>aCc	p.I42T	HOXD12_ENST00000404162.2_Missense_Mutation_p.I42T			P35452	HXD12_HUMAN	homeobox D12	42				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		CTTCCCCCTATCTCCTACCCG	0.711													10	92					0	0	0	0	C	176964654	T	C	176964654	3	2	408	1	0	0	0	0	1	0	0	0	7371	1435	50	5	127	5	HOXD12	2	176964654	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	920792	176964654	66234719	531	78349											
HNRNPA3	220988	broad.mit.edu	37	chr2	178080345	178080345	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaactacagatgatagtTtacgagaacattttgagaaa	17	12	8	4	1	0	5	0	3	0	3	0	7	0	5	0	0	4	1	0	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:178080345T>A	ENST00000411529.2	+	2	136	c.85T>A	c.(85-87)Tta>Ata	p.L29I	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.L51I|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.L51I	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	51						catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						AGATGATAGTTTACGAGAACA	0.438													18	118					0	0	0	0	A	178080345	T	A	178080345	3	1	408	1	0	0	0	0	1	0	0	0	7310	1838	64	5	157	5	HNRNPA3	2	178080345	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1115691	178080345	65119028	532	78350											
TTN	7273	broad.mit.edu	37	chr2	179402611	179402611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaattttgtggtaacatccTtcatttctttgcgtattcct	7	19	5	10	1	2	0	1	0	1	0	4	0	4	0	3	1	2	2	3	1	3	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179402611T>C	ENST00000589042.1	-	355	99547	c.99323A>G	c.(99322-99324)aAg>aGg	p.K33108R	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K30540R|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K24235R|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24168R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K24043R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K31467R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31467							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAACATCCTTCATTTCTTT	0.398													5	29					0	0	0	0	C	179402611	T	C	179402611	3	2	408	1	0	0	0	0	1	0	0	0	16831	1609	56	5	8688	5	TTN	2	179402611	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1322266	179402611	63796762	533	78351											
TTN	7273	broad.mit.edu	37	chr2	179426382	179426382	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgcacaactttaggagtAccaggaggacctgggggact	11	7	14	9	0	0	0	0	0	0	0	0	4	0	4	2	5	3	3	2	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179426382A>G	ENST00000589042.1	-	326	84701	c.84477T>C	c.(84475-84477)ggT>ggC	p.G28159G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.G25591G|TTN_ENST00000342175.6_Silent_p.G19286G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G19219G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.G19094G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.G26518G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26518	Fibronectin type-III 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAGGAGTACCAGGAGGAC	0.463													12	28					0	0	0	0	G	179426382	A	G	179426382	2	3	408	1	0	0	0	0	0	0	0	1	16831	378	14	5		5	TTN	2	179426382	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	23771	179426382	63772991	534	78352											
TTN	7273	broad.mit.edu	37	chr2	179429620	179429620	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttgagattgatgtcacaAaaggagttccaggtggtcca	11	12	11	7	0	1	2	1	2	0	1	3	4	3	3	2	3	0	1	2	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179429620A>G	ENST00000589042.1	-	326	81463	c.81239T>C	c.(81238-81240)tTt>tCt	p.F27080S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F24512S|TTN_ENST00000342175.6_Missense_Mutation_p.F18207S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F18140S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F18015S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F25439S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25439	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGTCACAAAAGGAGTTCC	0.403													16	56					0	0	0	0	G	179429620	A	G	179429620	3	3	408	1	0	0	0	0	1	0	0	0	16831	14	1	5	26888	5	TTN	2	179429620	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3238	179429620	63769753	535	78353											
TTN	7273	broad.mit.edu	37	chr2	179439851	179439851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttaagaatttggtctcCttttttccatgtcactgtgg	6	19	8	8	0	2	1	1	0	1	1	4	1	3	1	2	2	0	1	2	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179439851C>T	ENST00000589042.1	-	326	71232	c.71008G>A	c.(71008-71010)Gga>Aga	p.G23670R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21102R|TTN_ENST00000342175.6_Missense_Mutation_p.G14797R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14730R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14605R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G22029R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22029	Fibronectin type-III 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGGTCTCCTTTTTTCCAT	0.423													10	18					0	0	0	0	T	179439851	C	T	179439851	3	4	408	1	0	0	0	0	1	0	0	0	16831	690	24	4	37119	4	TTN	2	179439851	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	10231	179439851	63759522	536	78354											
TTN	7273	broad.mit.edu	37	chr2	179458948	179458948	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgagcttatctctgaagTcgaggtgaagcgttgggggt	7	12	16	6	3	1	3	0	3	1	0	4	4	1	3	0	3	2	2	0	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179458948T>C	ENST00000589042.1	-	297	58396	c.58172A>G	c.(58171-58173)gAc>gGc	p.D19391G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16823G|TTN_ENST00000342175.6_Missense_Mutation_p.D10518G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10451G|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10326G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17750G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17750	Fibronectin type-III 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCTGAAGTCGAGGTGAAG	0.403													5	81					0	0	0	0	C	179458948	T	C	179458948	3	2	408	1	0	0	0	0	1	0	0	0	16831	1667	58	5	50071	5	TTN	2	179458948	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	19097	179458948	63740425	537	78355											
TTN	7273	broad.mit.edu	37	chr2	179463272	179463272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcttctttatattcaacGatgtatccagttactttgga	9	18	5	9	1	3	0	1	0	2	0	4	2	4	1	2	1	2	2	2	1	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179463272G>A	ENST00000589042.1	-	292	57296	c.57072C>T	c.(57070-57072)atC>atT	p.I19024I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.I16456I|TTN_ENST00000342175.6_Silent_p.I10151I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I10084I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.I9959I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.I17383I|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17383							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATATTCAACGATGTATCCAG	0.378													11	32					0	0	0	0	A	179463272	G	A	179463272	2	1	408	1	0	0	0	0	0	0	0	1	16831	1048	37	1		1	TTN	2	179463272	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4324	179463272	63736101	538	78356											
TTN	7273	broad.mit.edu	37	chr2	179486344	179486346	+	In_Frame_Del	DEL	CTC	CTC	-																															tatcttcctgtttcaatgatCtcctcatcccctttatacca																								rs114331773	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179486344_179486346delCTC	ENST00000589042.1	-	245	45429_45431	c.45205_45207delGAG	c.(45205-45207)del	p.E15069del	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.E13428del|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.E6129del|TTN_ENST00000342175.6_In_Frame_Del_p.E6196del|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E12501del|TTN_ENST00000460472.2_In_Frame_Del_p.E6004del	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13428	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAATGATCTCCTCATCCCCT	0.424													20	84	---	---	---	---					-	179486346	CTC	-	179486344	7	5	408	1	0	1	0	1	0	0	0	0	16831	912	32	0	62958	0	TTN	2	179486344	In_Frame_Del	DEL	CTC	TCGA-F7-A624-01A-22D-A30E-08	23072	179486344	63713029	539	78357											
TTN	7273	broad.mit.edu	37	chr2	179498221	179498221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttaaggtccgccttttTgatttttaagatgcggcgca	8	16	9	8	3	1	2	0	1	1	1	2	2	2	2	2	2	1	1	2	2	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179498221T>C	ENST00000589042.1	-	232	43089	c.42865A>G	c.(42865-42867)Aaa>Gaa	p.K14289E	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K11721E|TTN_ENST00000342175.6_Missense_Mutation_p.K5416E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K5349E|TTN_ENST00000460472.2_Missense_Mutation_p.K5224E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K12648E|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12648	Fibronectin type-III 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCGCCTTTTTGATTTTTAAG	0.433													22	56					0	0	0	0	C	179498221	T	C	179498221	3	2	408	1	0	0	0	0	1	0	0	0	16831	1821	63	5	65352	5	TTN	2	179498221	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	11877	179498221	63701152	540	78358											
TTN	7273	broad.mit.edu	37	chr2	179498630	179498630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtcacttctttcattTccaatttgtgagtcttgccc	7	17	5	12	0	4	1	2	1	2	0	5	1	5	1	3	0	1	0	3	0	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179498630T>C	ENST00000589042.1	-	231	42820	c.42596A>G	c.(42595-42597)gAa>gGa	p.E14199G	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11631G|TTN_ENST00000342175.6_Missense_Mutation_p.E5326G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5259G|TTN_ENST00000460472.2_Missense_Mutation_p.E5134G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12558G|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12558	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTCATTTCCAATTTGTG	0.398													9	236					0	0	0	0	C	179498630	T	C	179498630	3	2	408	1	0	0	0	0	1	0	0	0	16831	1783	62	5	65625	5	TTN	2	179498630	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	409	179498630	63700743	541	78359											
TTN	7273	broad.mit.edu	37	chr2	179586855	179586855	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcaaagaagggagatttcTtgggttctggaggatgagaa	12	11	15	3	0	3	3	1	1	2	3	3	7	3	5	0	4	0	1	0	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179586855T>C	ENST00000589042.1	-	78	22759	c.22535A>G	c.(22534-22536)aAg>aGg	p.K7512R	TTN_ENST00000342992.6_Missense_Mutation_p.K6268R|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K7195R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7195	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGAGATTTCTTGGGTTCTGG	0.388													8	232					0	0	0	0	C	179586855	T	C	179586855	3	2	408	1	0	0	0	0	1	0	0	0	16831	1609	56	5	82134	5	TTN	2	179586855	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	88225	179586855	63612518	542	78360											
TTN	7273	broad.mit.edu	37	chr2	179604505	179604505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcagctgttaggatgtcTatttcctcatatataatagc	10	15	6	10	0	3	0	2	0	1	0	4	1	4	1	2	1	2	2	2	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179604505T>C	ENST00000589042.1	-	48	13679	c.13455A>G	c.(13453-13455)atA>atG	p.I4485M	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.I4314M|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I4247M|TTN_ENST00000460472.2_Missense_Mutation_p.I4122M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I4168M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4168	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGGATGTCTATTTCCTCAT	0.388													62	218					0	0	0	0	C	179604505	T	C	179604505	3	2	408	1	0	0	0	0	1	0	0	0	16831	1512	53	5	91334	5	TTN	2	179604505	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	17650	179604505	63594868	543	78361											
TTN	7273	broad.mit.edu	37	chr2	179605944	179605944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagatatagaggccacTgtcttccctctgagggtcat	9	13	9	10	0	3	3	1	1	2	2	4	3	4	3	2	2	1	0	2	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179605944T>C	ENST00000589042.1	-	48	12240	c.12016A>G	c.(12016-12018)Agt>Ggt	p.S4006G	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.S3835G|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3768G|TTN_ENST00000460472.2_Missense_Mutation_p.S3643G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S3689G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3689							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAGGCCACTGTCTTCCCTC	0.453													38	93					0	0	0	0	C	179605944	T	C	179605944	3	2	408	1	0	0	0	0	1	0	0	0	16831	1580	55	5	92773	5	TTN	2	179605944	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1439	179605944	63593429	544	78362											
CCDC141	285025	broad.mit.edu	37	chr2	179720089	179720089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacctcttctatcacctcCtggaaatgctcagtcaggtc	10	12	6	13	0	5	0	3	0	2	0	7	1	6	1	3	2	2	1	3	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179720089C>A	ENST00000420890.2	-	19	3162	c.3045G>T	c.(3043-3045)caG>caT	p.Q1015H	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q440H	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	440							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTATCACCTCCTGGAAATGCT	0.363													25	75					2.12542e-12	2.21375e-12	1	0	A	179720089	C	A	179720089	3	1	408	1	0	0	0	0	1	0	0	0	2800	680	24	4	1327	4	CCDC141	2	179720089	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	114145	179720089	63479284	545	78363											
ITGA4	3676	broad.mit.edu	37	chr2	182347144	182347144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttacatgaaatgaaaggtAaaaaggtaatatgtctctac	17	12	7	5	0	2	2	0	2	2	0	3	2	2	2	0	2	2	2	0	2	9	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:182347144A>G	ENST00000397033.2	+	8	1328	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	300					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AATGAAAGGTAAAAAGGTAAT	0.333													21	87					0	0	0	0	G	182347144	A	G	182347144	3	3	408	1	0	0	0	0	1	0	0	0	7931	363	13	5	928	5	ITGA4	2	182347144	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2627055	182347144	60852229	546	78364											
ITGA4	3676	broad.mit.edu	37	chr2	182347240	182347240	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctggtttgttttgggacaGcttggatcgtactttggagc	6	16	13	6	1	1	0	0	0	1	0	2	3	1	3	0	4	3	4	0	4	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:182347240G>A	ENST00000397033.2	+	9	1333		c.e9-1			NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)						blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTTGGGACAGCTTGGATCGT	0.473													6	311					0	0	0	0	A	182347240	G	A	182347240	5	1	408	1	0	0	0	0	0	0	1	0	7931	985	34	4	937	4	ITGA4	2	182347240	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	96	182347240	60852133	547	78365											
SSFA2	6744	broad.mit.edu	37	chr2	182780567	182780567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcaaaagctggctatcctCtaagaaggtctcagtcttta	11	13	8	9	0	3	1	1	0	3	1	5	1	4	1	1	2	2	3	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:182780567C>G	ENST00000431877.2	+	11	2379	c.2200C>G	c.(2200-2202)Cta>Gta	p.L734V	SSFA2_ENST00000428267.2_Missense_Mutation_p.L581V|SSFA2_ENST00000409136.1_Missense_Mutation_p.L243V|SSFA2_ENST00000320370.7_Missense_Mutation_p.L734V|SSFA2_ENST00000409001.1_Missense_Mutation_p.L734V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	734						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGGCTATCCTCTAAGAAGGTC	0.423													27	107					0	0	0	0	G	182780567	C	G	182780567	3	3	408	1	0	0	0	0	1	0	0	0	15273	912	32	2	2242	2	SSFA2	2	182780567	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	433327	182780567	60418806	548	78366											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-																															caagaacatgactatttcaaGggggggactgatgcagtgtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)agfs	p.R559fs	ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTATTTCAAGGGGGGGACTG	0.428													63	207	---	---	---	---					-	187521085	G	-	187521085	7	5	408	1	0	1	0	1	0	0	0	0	7941	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	4740518	187521085	55678288	549	78367											
ITGAV	3685	broad.mit.edu	37	chr2	187540341	187540341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttggcagggttgtggagTtgctcagtgcttgaagattg	6	15	16	4	0	1	2	1	1	0	1	1	3	1	3	0	3	2	6	0	3	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:187540341T>C	ENST00000261023.3	+	27	2991	c.2717T>C	c.(2716-2718)gTt>gCt	p.V906A	ITGAV_ENST00000433736.2_Missense_Mutation_p.V860A|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.V870A	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	906					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGTTGTGGAGTTGCTCAGTGC	0.368													27	92					0	0	0	0	C	187540341	T	C	187540341	3	2	408	1	0	0	0	0	1	0	0	0	7941	1725	60	5	2874	5	ITGAV	2	187540341	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	19256	187540341	55659032	550	78368											
TFPI	7035	broad.mit.edu	37	chr2	188332546	188332546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttcccccacatccacTgtacttaaatgggcggcatt	9	13	6	13	1	1	0	1	0	0	0	3	0	3	0	3	2	1	2	3	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:188332546T>C	ENST00000233156.3	-	7	1036	c.742A>G	c.(742-744)Agt>Ggt	p.S248G	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248G	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	248	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CCACATCCACTGTACTTAAAT	0.408													27	93					0	0	0	0	C	188332546	T	C	188332546	3	2	408	1	0	0	0	0	1	0	0	0	15902	1580	55	5	180	5	TFPI	2	188332546	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	792205	188332546	54866827	551	78369											
COL3A1	1281	broad.mit.edu	37	chr2	189873756	189873756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgggattggaggtgAaaaagctggcggttttgccc	8	11	15	7	1	0	1	0	1	0	0	0	3	0	3	1	5	3	3	1	5	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:189873756A>G	ENST00000304636.3	+	48	3802	c.3632A>G	c.(3631-3633)gAa>gGa	p.E1211G	COL3A1_ENST00000317840.5_Missense_Mutation_p.E908G	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1211					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATTGGAGGTGAAAAAGCTGGC	0.532													32	107					0	0	0	0	G	189873756	A	G	189873756	3	3	408	1	0	0	0	0	1	0	0	0	3718	246	9	5	3822	5	COL3A1	2	189873756	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1541210	189873756	53325617	552	78370											
ASNSD1	54529	broad.mit.edu	37	chr2	190531561	190531561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcaaatgaagccaaaCtgtatcttgaaaaacctgtt	15	11	8	7	0	1	2	0	2	1	0	1	2	1	2	2	1	4	4	2	1	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:190531561C>T	ENST00000260952.4	+	4	1116	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	235					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGAAGCCAAACTGTATCTTGA	0.363													25	104					0	0	0	0	T	190531561	C	T	190531561	2	4	408	1	0	0	0	0	0	0	0	1	1053	564	20	4		4	ASNSD1	2	190531561	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	657805	190531561	52667812	553	78371											
ANKAR	150709	broad.mit.edu	37	chr2	190554370	190554370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgtatttatgaaatatgCtgaaaatattatgctaaagt	16	15	7	3	0	0	2	0	2	0	0	0	2	0	2	0	0	3	4	0	0	10	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:190554370C>T	ENST00000520309.1	+	3	807	c.719C>T	c.(718-720)gCt>gTt	p.A240V	ANKAR_ENST00000281412.6_Missense_Mutation_p.A4V|ANKAR_ENST00000313581.4_Missense_Mutation_p.A240V|ANKAR_ENST00000438402.2_Missense_Mutation_p.A240V|ANKAR_ENST00000431575.2_Missense_Mutation_p.A169V|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	240						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATGAAATATGCTGAAAATATT	0.323													4	94					0	0	0	0	T	190554370	C	T	190554370	3	4	408	1	0	0	0	0	1	0	0	0	623	797	28	4	725	4	ANKAR	2	190554370	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	22809	190554370	52645003	554	78372											
PMS1	5378	broad.mit.edu	37	chr2	190660580	190660580	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgtaatggcaatgaagtActacacctcaaaaataaata	19	9	5	8	0	1	1	1	1	0	0	1	1	1	1	2	1	2	3	2	1	10	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:190660580A>T	ENST00000441310.2	+	3	451	c.218A>T	c.(217-219)tAc>tTc	p.Y73F	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.Y73F|PMS1_ENST00000374826.4_Missense_Mutation_p.Y73F|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000447232.2_Missense_Mutation_p.Y73F|PMS1_ENST00000409985.1_Missense_Mutation_p.Y73F|PMS1_ENST00000418224.3_5'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	73					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GCAATGAAGTACTACACCTCA	0.383			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					24	76					0	0	0	0	T	190660580	A	T	190660580	3	4	408	1	0	0	0	0	1	0	0	0	12214	391	14	5	224	5	PMS1	2	190660580	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	106210	190660580	52538793	555	78373											
SDPR	8436	broad.mit.edu	37	chr2	192711277	192711277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgctctttgaccgcgcgCgtgtgggcgctgaccttgcg	3	10	15	13	7	1	2	0	2	1	0	1	2	1	2	2	1	2	2	2	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:192711277C>T	ENST00000304141.4	-	1	704	c.375G>A	c.(373-375)acG>acA	p.T125T	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	125						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGACCGCGCGCGTGTGGGCGC	0.602													27	50					0	0	0	0	T	192711277	C	T	192711277	2	4	408	1	0	0	0	0	0	0	0	1	14057	755	27	1		1	SDPR	2	192711277	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2050697	192711277	50488096	556	78374											
DNAH7	56171	broad.mit.edu	37	chr2	196788388	196788388	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatatttttttttacaagTgatgagaggacatctctagc	12	16	7	6	0	1	2	0	2	1	1	2	4	1	3	0	1	2	0	0	1	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:196788388T>C	ENST00000312428.6	-	23	3856	c.3756A>G	c.(3754-3756)tcA>tcG	p.S1252S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1252	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTACAAGTGATGAGAGGA	0.408													10	64					0	0	0	0	C	196788388	T	C	196788388	2	2	408	1	0	0	0	0	0	0	0	1	4642	1683	59	5		5	DNAH7	2	196788388	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4077111	196788388	46410985	557	78375											
HECW2	57520	broad.mit.edu	37	chr2	197184031	197184031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagattttctggcttaTcctcaaaggaagcagcttcg	10	12	10	9	1	2	1	1	0	1	1	4	3	3	3	1	3	2	3	1	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:197184031T>C	ENST00000260983.2	-	9	1765	c.1583A>G	c.(1582-1584)gAt>gGt	p.D528G	HECW2_ENST00000409111.1_Missense_Mutation_p.D172G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	528					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTCTGGCTTATCCTCAAAGGA	0.552													7	60					0	0	0	0	C	197184031	T	C	197184031	3	2	408	1	0	0	0	0	1	0	0	0	7093	1435	50	5	3219	5	HECW2	2	197184031	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	395643	197184031	46015342	558	78376											
GTF3C3	9330	broad.mit.edu	37	chr2	197639891	197639891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgctgtctgatattttgtCtctcgatactttaataagat	10	19	6	6	1	2	2	0	1	2	1	4	3	2	2	0	0	2	1	0	0	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:197639891C>G	ENST00000263956.3	-	13	1869	c.1780G>C	c.(1780-1782)Gac>Cac	p.D594H		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	594						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GATATTTTGTCTCTCGATACT	0.338													12	48					0	0	0	0	G	197639891	C	G	197639891	3	3	408	1	0	0	0	0	1	0	0	0	6924	913	32	2	904	2	GTF3C3	2	197639891	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	455860	197639891	45559482	559	78377											
MARS2	92935	broad.mit.edu	37	chr2	198570956	198570956	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggatgattcgcagaccaTctatgtatggctggatgccc	8	10	13	10	2	1	2	0	1	1	1	2	4	1	4	2	4	1	3	2	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:198570956T>A	ENST00000282276.6	+	1	870	c.827T>A	c.(826-828)aTc>aAc	p.I276N	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	276					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TCGCAGACCATCTATGTATGG	0.557													24	68					0	0	0	0	A	198570956	T	A	198570956	3	1	408	1	0	0	0	0	1	0	0	0	9386	1435	50	5	829	5	MARS2	2	198570956	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	931065	198570956	44628417	560	78378											
PLCL1	5334	broad.mit.edu	37	chr2	198953648	198953648	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtctgaagcagtgcctgTtaactctgtcatctcggctc	7	12	9	13	1	4	1	1	1	3	0	6	1	4	1	2	1	3	3	2	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:198953648T>C	ENST00000428675.1	+	3	3180	c.2782T>C	c.(2782-2784)Tta>Cta	p.L928L	PLCL1_ENST00000437704.2_Silent_p.L830L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	928					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCAGTGCCTGTTAACTCTGTC	0.463													148	415					0	0	0	0	C	198953648	T	C	198953648	2	2	408	1	0	0	0	0	0	0	0	1	12111	1722	60	5		5	PLCL1	2	198953648	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	382692	198953648	44245725	561	78379											
SGOL2	151246	broad.mit.edu	37	chr2	201437985	201437985	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagtaatgaaaaggaaagTtgtgatcaaattttagattc	18	12	8	3	0	1	3	1	2	0	1	2	4	1	4	0	1	1	2	0	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:201437985T>C	ENST00000357799.4	+	7	3014	c.2916T>C	c.(2914-2916)agT>agC	p.S972S		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	972					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAGGAAAGTTGTGATCAAA	0.279													16	58					0	0	0	0	C	201437985	T	C	201437985	2	2	408	1	0	0	0	0	0	0	0	1	14304	1722	60	5		5	SGOL2	2	201437985	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2484337	201437985	41761388	562	78380											
AOX1	316	broad.mit.edu	37	chr2	201534320	201534320	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggagagtcgggggtgtTcctggggtgttccgtgtttt	2	15	18	6	2	1	1	0	0	1	1	4	2	3	1	2	5	0	3	2	5	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:201534320T>A	ENST00000374700.2	+	34	4062	c.3821T>A	c.(3820-3822)tTc>tAc	p.F1274Y	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1274					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCGGGGGTGTTCCTGGGGTGT	0.498													88	266					0	0	0	0	A	201534320	T	A	201534320	3	1	408	1	0	0	0	0	1	0	0	0	730	1783	62	5	3955	5	AOX1	2	201534320	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	96335	201534320	41665053	563	78381											
BZW1	9689	broad.mit.edu	37	chr2	201683504	201683505	+	Frame_Shift_Ins	INS	-	-	A																															tatatgtcaaggaggagatgINSaaaaaaaacaacatcccaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:201683504_201683505insA	ENST00000409600.1	+	9	1301_1302	c.846_847insA	c.(844-849)ataaaafs	p.IK282fs	BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs|BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	282	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACAA	0.371													15	57	---	---	---	---					A	201683505	-	A	201683504	7	5	408	1	0	1	1	0	0	0	0	0	1587	1290	45	0	876	0	BZW1	2	201683504	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	149184	201683504	41515869	564	78382											
CASP8	841	broad.mit.edu	37	chr2	202149997	202149997	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctgcagagggaacctggTacatccagtcactttgccag	10	8	10	13	0	1	1	1	0	0	1	2	2	2	2	4	2	4	2	4	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:202149997T>C	ENST00000358485.4	+	8	1634	c.1438T>C	c.(1438-1440)Tac>Cac	p.Y480H	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.Y337H|CASP8_ENST00000264275.5_Missense_Mutation_p.Y438H|CASP8_ENST00000432109.2_Missense_Mutation_p.Y421H|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.Y406H	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	421					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGGAACCTGGTACATCCAGTC	0.527										HNSCC(4;0.00038)			14	75					0	0	0	0	C	202149997	T	C	202149997	3	2	408	1	0	0	0	0	1	0	0	0	2702	1638	57	5	1568	5	CASP8	2	202149997	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	466493	202149997	41049376	565	78383											
CASP8	841	broad.mit.edu	37	chr2	202151254	202151254	+	Frame_Shift_Del	DEL	G	G	-																															aaggatgacaagaaaaacatGgggaaacagatgcctcagcc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:202151254delG	ENST00000358485.4	+	9	1750	c.1554delG	c.(1552-1554)atfs	p.M518fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.M444fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.M459fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Frame_Shift_Del_p.M375fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.M476fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	459					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.K520fs*19(1)|p.K478fs*19(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGAAAAACATGGGGAAACAGA	0.358										HNSCC(4;0.00038)			13	89	---	---	---	---					-	202151254	G	-	202151254	7	5	408	1	0	1	0	1	0	0	0	0	2702	1348	47	0	1688	0	CASP8	2	202151254	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	1257	202151254	41048119	566	78384											
TRAK2	66008	broad.mit.edu	37	chr2	202264170	202264171	+	Frame_Shift_Del	DEL	AA	AA	-																															ataagacatggttccgctttAagagagcttgtccaattcga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:202264170_202264171delAA	ENST00000332624.3	-	5	837_838	c.409_410delTT	c.(409-411)afs	p.L137fs	TRAK2_ENST00000430254.1_Frame_Shift_Del_p.L137fs	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	137						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTTCCGCTTTAAGAGAGCTTGT	0.426													33	75	---	---	---	---					-	202264171	AA	-	202264170	7	5	408	1	0	1	0	1	0	0	0	0	16545	372	13	0	2382	0	TRAK2	2	202264170	Frame_Shift_Del	DEL	AA	TCGA-F7-A624-01A-22D-A30E-08	112916	202264170	40935203	567	78385											
ALS2	57679	broad.mit.edu	37	chr2	202626476	202626476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcattttctagaatggggcTacttggacaaatctccactg	10	12	10	9	0	2	1	0	0	2	1	3	2	2	2	1	4	1	2	1	4	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:202626476T>C	ENST00000264276.6	-	4	613	c.241A>G	c.(241-243)Agc>Ggc	p.S81G	ALS2_ENST00000467448.1_Missense_Mutation_p.S81G|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	81					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAATGGGGCTACTTGGACAA	0.433													19	135					0	0	0	0	C	202626476	T	C	202626476	3	2	408	1	0	0	0	0	1	0	0	0	550	1522	53	5	4934	5	ALS2	2	202626476	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	362306	202626476	40572897	568	78386											
BMPR2	659	broad.mit.edu	37	chr2	203383606	203383606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggatgagcgtccagttgCtgtaaaagtgttttcctttg	7	16	11	7	1	0	1	0	1	0	0	2	2	2	2	2	1	2	4	2	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:203383606C>T	ENST00000374580.4	+	6	1222	c.683C>T	c.(682-684)gCt>gTt	p.A228V	BMPR2_ENST00000374574.2_Missense_Mutation_p.A228V	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	228	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CGTCCAGTTGCTGTAAAAGTG	0.398													30	70					0	0	0	0	T	203383606	C	T	203383606	3	4	408	1	0	0	0	0	1	0	0	0	1476	797	28	4	705	4	BMPR2	2	203383606	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	757130	203383606	39815767	569	78387											
RAPH1	65059	broad.mit.edu	37	chr2	204309667	204309667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatgctctgggaacggAcgtgtcctgctggctgggtg	6	10	15	10	2	2	0	1	0	1	0	3	2	3	2	1	4	3	3	1	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:204309667A>G	ENST00000319170.5	-	13	1999	c.1700T>C	c.(1699-1701)gTc>gCc	p.V567A	RAPH1_ENST00000418114.1_Missense_Mutation_p.V567A|RAPH1_ENST00000439222.1_Missense_Mutation_p.V592A|RAPH1_ENST00000308091.4_Missense_Mutation_p.V619A|RAPH1_ENST00000419464.1_Missense_Mutation_p.V567A|RAPH1_ENST00000374488.2_Missense_Mutation_p.V592A|RAPH1_ENST00000423104.1_Missense_Mutation_p.V594A|RAPH1_ENST00000374493.3_Missense_Mutation_p.V619A|RAPH1_ENST00000374489.2_Missense_Mutation_p.V594A|RAPH1_ENST00000457812.1_Missense_Mutation_p.V567A|RAPH1_ENST00000453034.1_Missense_Mutation_p.V619A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	567					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGAACGGACGTGTCCTGC	0.443													35	113					0	0	0	0	G	204309667	A	G	204309667	3	3	408	1	0	0	0	0	1	0	0	0	13132	275	10	5	2067	5	RAPH1	2	204309667	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	926061	204309667	38889706	570	78388											
CTLA4	1493	broad.mit.edu	37	chr2	204735498	204735498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgaccttcctagatgAttccatctgcacgggcacct	8	12	9	12	1	1	4	0	3	1	1	3	4	3	4	4	1	1	3	4	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:204735498A>T	ENST00000302823.3	+	2	456	c.299A>T	c.(298-300)gAt>gTt	p.D100V	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000427473.2_Missense_Mutation_p.D63V|CTLA4_ENST00000295854.6_Missense_Mutation_p.D100V|CTLA4_ENST00000472206.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	100	Ig-like V-type.				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TTCCTAGATGATTCCATCTGC	0.552													38	119					0	0	0	0	T	204735498	A	T	204735498	3	4	408	1	0	0	0	0	1	0	0	0	4043	333	12	5	305	5	CTLA4	2	204735498	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	425831	204735498	38463875	571	78389											
PARD3B	117583	broad.mit.edu	37	chr2	205978293	205978293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcccttcttttcatctctGagtggaaggtaagatgtttt	7	17	10	7	0	3	2	1	1	2	1	4	3	3	3	1	2	1	2	1	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:205978293G>A	ENST00000406610.2	+	6	879	c.672G>A	c.(670-672)ctG>ctA	p.L224L	PARD3B_ENST00000358768.2_Silent_p.L224L|PARD3B_ENST00000462231.1_Silent_p.L224L|PARD3B_ENST00000351153.1_Silent_p.L224L|PARD3B_ENST00000349953.3_Silent_p.L224L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	224	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTTCATCTCTGAGTGGAAGGT	0.408													8	20					0	0	0	0	A	205978293	G	A	205978293	2	1	408	1	0	0	0	0	0	0	0	1	11515	1277	45	2		2	PARD3B	2	205978293	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1242795	205978293	37221080	572	78390											
NRP2	8828	broad.mit.edu	37	chr2	206592754	206592754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggatggtgtaccggcAtggcaaaaaccacaaggtaa	14	6	13	8	1	0	0	0	0	0	0	0	2	0	2	2	6	2	4	2	6	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:206592754A>G	ENST00000360409.3	+	7	1921	c.1130A>G	c.(1129-1131)cAt>cGt	p.H377R	NRP2_ENST00000357118.4_Missense_Mutation_p.H377R|NRP2_ENST00000355117.4_Missense_Mutation_p.H377R|NRP2_ENST00000357785.5_Missense_Mutation_p.H377R|NRP2_ENST00000540178.1_Missense_Mutation_p.H377R|NRP2_ENST00000272849.3_Missense_Mutation_p.H377R|NRP2_ENST00000417189.1_Missense_Mutation_p.H377R|NRP2_ENST00000412873.2_Missense_Mutation_p.H377R|NRP2_ENST00000540841.1_Missense_Mutation_p.H377R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	377	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GTGTACCGGCATGGCAAAAAC	0.502													21	52					0	0	0	0	G	206592754	A	G	206592754	3	3	408	1	0	0	0	0	1	0	0	0	10732	217	8	5	1156	5	NRP2	2	206592754	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	614461	206592754	36606619	573	78391											
ADAM23	8745	broad.mit.edu	37	chr2	207460793	207460793	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgtagtaatgaagccAcctgcatttgtgatttcacc	10	13	10	8	0	1	2	1	2	0	0	1	2	1	2	3	1	2	3	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:207460793A>G	ENST00000264377.3	+	24	2594	c.2266A>G	c.(2266-2268)Acc>Gcc	p.T756A	ADAM23_ENST00000374416.1_Missense_Mutation_p.T756A|ADAM23_ENST00000374415.3_Missense_Mutation_p.T756A	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	756	EGF-like.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TAATGAAGCCACCTGCATTTG	0.453													7	28					0	0	0	0	G	207460793	A	G	207460793	3	3	408	1	0	0	0	0	1	0	0	0	245	159	6	5	2360	5	ADAM23	2	207460793	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	868039	207460793	35738580	574	78392											
MDH1B	130752	broad.mit.edu	37	chr2	207619851	207619851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctcatgagtaaaactgtCttcaggtttacaaaggttct	12	15	7	7	0	4	1	2	1	3	0	5	1	4	1	0	2	2	3	0	2	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:207619851C>T	ENST00000374412.3	-	5	1067	c.792G>A	c.(790-792)aaG>aaA	p.K264K	MDH1B_ENST00000449792.1_Silent_p.K166K|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.K264K	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	264					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTAAAACTGTCTTCAGGTTTA	0.502													33	106					0	0	0	0	T	207619851	C	T	207619851	2	4	408	1	0	0	0	0	0	0	0	1	9478	912	32	2		2	MDH1B	2	207619851	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	159058	207619851	35579522	575	78393											
PLEKHM3	389072	broad.mit.edu	37	chr2	208795811	208795811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagcggctcttcgtacacGtactccagaaactccttggc	9	10	9	13	3	1	2	0	1	1	1	4	2	3	2	2	2	4	3	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:208795811G>A	ENST00000457206.1	-	5	2152	c.1725C>T	c.(1723-1725)taC>taT	p.Y575Y	PLEKHM3_ENST00000389247.4_Silent_p.Y575Y|PLEKHM3_ENST00000427836.2_Silent_p.Y575Y			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	575					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCGTACACGTACTCCAGAA	0.602													32	88					0	0	0	0	A	208795811	G	A	208795811	2	1	408	1	0	0	0	0	0	0	0	1	12154	1140	40	1		1	PLEKHM3	2	208795811	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1175960	208795811	34403562	576	78394											
MAP2	4133	broad.mit.edu	37	chr2	210558304	210558304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacctgcagatgaagaaatAggcataattcagacctccac	17	7	7	10	0	1	4	1	1	0	3	2	4	2	4	3	1	2	2	3	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:210558304A>G	ENST00000360351.4	+	7	1916	c.1410A>G	c.(1408-1410)atA>atG	p.I470M	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I466M|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	470					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGAAGAAATAGGCATAATTC	0.428													26	65					0	0	0	0	G	210558304	A	G	210558304	3	3	408	1	0	0	0	0	1	0	0	0	9304	410	15	5	1424	5	MAP2	2	210558304	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1762493	210558304	32641069	577	78395											
MAP2	4133	broad.mit.edu	37	chr2	210558823	210558823	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagcactctcgcacagagTtatccatcagatttacctga	12	11	6	12	1	2	3	1	1	1	2	4	3	3	3	2	0	3	3	2	0	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:210558823T>C	ENST00000360351.4	+	7	2435	c.1929T>C	c.(1927-1929)agT>agC	p.S643S	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.S639S|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	643					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCGCACAGAGTTATCCATCAG	0.448													21	59					0	0	0	0	C	210558823	T	C	210558823	2	2	408	1	0	0	0	0	0	0	0	1	9304	1722	60	5		5	MAP2	2	210558823	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	519	210558823	32640550	578	78396											
ACADL	33	broad.mit.edu	37	chr2	211085431	211085431	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacttttccggaaaatgTcatgctctggagaaaagatt	13	13	8	7	1	2	2	1	0	1	2	3	4	3	3	1	2	2	1	1	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:211085431T>A	ENST00000233710.3	-	2	400	c.173A>T	c.(172-174)gAc>gTc	p.D58V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	58					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CCGGAAAATGTCATGCTCTGG	0.378													16	37					0	0	0	0	A	211085431	T	A	211085431	3	1	408	1	0	0	0	0	1	0	0	0	112	1667	58	5	1159	5	ACADL	2	211085431	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	526608	211085431	32113942	579	78397											
IKZF2	22807	broad.mit.edu	37	chr2	213872491	213872491	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctctctttcctggggtcGactctttggtctgatgagag	4	14	13	10	1	3	2	0	2	3	1	6	4	4	2	2	4	0	0	2	4	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:213872491G>A	ENST00000457361.1	-	8	1342	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R247*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.R392*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R320*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R398*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R318*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R366*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R392*(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCCTGGGGTCGACTCTTTGGT	0.502													44	130					0	0	0	0	A	213872491	G	A	213872491	4	1	408	1	0	0	0	0	0	1	0	0	7668	1066	37	1	410	1	IKZF2	2	213872491	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2787060	213872491	29326882	580	78398											
SPAG16	79582	broad.mit.edu	37	chr2	214239796	214239796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaggtcttcgtgaaGccagggaacaaaacaaatgt	16	7	10	8	1	2	2	1	1	1	1	3	3	2	3	1	2	3	0	1	2	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:214239796G>A	ENST00000331683.5	+	9	990	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	SPAG16_ENST00000272898.7_Missense_Mutation_p.A299T|SPAG16_ENST00000374309.3_Missense_Mutation_p.A205T|SPAG16_ENST00000447990.1_Missense_Mutation_p.A299T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	299					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCTTCGTGAAGCCAGGGAACA	0.318													14	51					0	0	0	0	A	214239796	G	A	214239796	3	1	408	1	0	0	0	0	1	0	0	0	15068	971	34	4	945	4	SPAG16	2	214239796	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	367305	214239796	28959577	581	78399											
FN1	2335	broad.mit.edu	37	chr2	216284010	216284010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccactccccaatgccacGgccatagcagtagcactggt	10	7	9	15	1	0	0	0	0	0	0	1	0	1	0	5	2	4	3	5	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:216284010G>T	ENST00000354785.4	-	12	2143	c.1774C>A	c.(1774-1776)Cgt>Agt	p.R592S	FN1_ENST00000357867.4_Missense_Mutation_p.R592S|FN1_ENST00000357009.2_Missense_Mutation_p.R592S|FN1_ENST00000359671.1_Missense_Mutation_p.R592S|FN1_ENST00000323926.6_Missense_Mutation_p.R592S|FN1_ENST00000346544.3_Missense_Mutation_p.R592S|FN1_ENST00000345488.5_Missense_Mutation_p.R592S|FN1_ENST00000336916.4_Missense_Mutation_p.R592S|FN1_ENST00000356005.4_Missense_Mutation_p.R592S|FN1_ENST00000446046.1_Missense_Mutation_p.R592S|FN1_ENST00000443816.1_Missense_Mutation_p.R592S|FN1_ENST00000432072.2_Missense_Mutation_p.R592S|FN1_ENST00000426059.1_Missense_Mutation_p.R592S|FN1_ENST00000421182.1_Missense_Mutation_p.R592S			P02751	FINC_HUMAN	fibronectin 1	592	Collagen-binding.|Fibronectin type-I 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAATGCCACGGCCATAGCAG	0.458													16	74					0.000422831	0.000428339	1	0	T	216284010	G	T	216284010	3	4	408	1	0	0	0	0	1	0	0	0	6007	1116	39	3	5832	3	FN1	2	216284010	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2044214	216284010	26915363	582	78400											
IGFBP2	3485	broad.mit.edu	37	chr2	217498647	217498647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggcacttgtgagaagcGccgggacgccgagtatggcg	8	5	18	10	6	0	1	0	1	0	1	0	5	0	2	2	3	1	2	2	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:217498647G>A	ENST00000233809.4	+	1	530	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	134	IGFBP N-terminal.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		TGTGAGAAGCGCCGGGACGCC	0.682													4	7					0	0	0	0	A	217498647	G	A	217498647	3	1	408	1	0	0	0	0	1	0	0	0	7632	1087	38	1	403	1	IGFBP2	2	217498647	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1214637	217498647	25700726	583	78401											
TNS1	7145	broad.mit.edu	37	chr2	218696257	218696258	+	Frame_Shift_Ins	INS	-	-	G																															ggggtgtcttggccagacccINSgggggggaccgcactgtgcc																								rs146820371		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:218696257_218696258insG	ENST00000171887.4	-	20	3370_3371	c.2918_2919insC	c.(2917-2919)cggfs	p.R973fs	TNS1_ENST00000419504.1_Frame_Shift_Ins_p.R973fs|TNS1_ENST00000430930.1_Frame_Shift_Ins_p.R973fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	973						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCCAGACCCGGGGGGGACCG	0.634													8	22	---	---	---	---					G	218696258	-	G	218696257	7	5	408	1	0	1	1	0	0	0	0	0	16437	639	23	0	2344	0	TNS1	2	218696257	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	1197610	218696257	24503116	584	78402											
PNKD	25953	broad.mit.edu	37	chr2	219204794	219204794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctctcggacaactacaGctacctcatcatcgacaccc	10	9	5	17	2	3	0	2	0	1	0	6	2	4	1	3	1	4	1	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:219204794G>A	ENST00000273077.4	+	4	446	c.395G>A	c.(394-396)aGc>aAc	p.S132N	PNKD_ENST00000436005.2_Missense_Mutation_p.S72N|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Missense_Mutation_p.S108N	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	132						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAACTACAGCTACCTCATC	0.662													19	83					0	0	0	0	A	219204794	G	A	219204794	3	1	408	1	0	0	0	0	1	0	0	0	12218	971	34	4	774	4	PNKD	2	219204794	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	508537	219204794	23994579	585	78403											
STK36	27148	broad.mit.edu	37	chr2	219563614	219563614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctatcggcccctgcgcaGcctcctgggccacccagaga	7	6	10	18	2	0	1	0	0	0	1	3	2	2	1	7	2	2	1	7	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:219563614G>A	ENST00000295709.3	+	26	3626	c.3347G>A	c.(3346-3348)aGc>aAc	p.S1116N	STK36_ENST00000440309.1_Missense_Mutation_p.S1116N|STK36_ENST00000392105.3_Missense_Mutation_p.S1095N|STK36_ENST00000392106.2_Missense_Mutation_p.S1095N	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1116					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCCCTGCGCAGCCTCCTGGGC	0.602													4	112					0	0	0	0	A	219563614	G	A	219563614	3	1	408	1	0	0	0	0	1	0	0	0	15392	971	34	4	3445	4	STK36	2	219563614	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	358820	219563614	23635759	586	78404											
DES	1674	broad.mit.edu	37	chr2	220284873	220284873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacaatttggctgccttccGagcggtgagtgcccttcttt	6	13	11	11	2	1	1	0	1	1	0	2	3	2	1	3	2	4	1	3	2	2	4	rs144261171		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:220284873G>A	ENST00000373960.3	+	2	721	c.635G>A	c.(634-636)cGa>cAa	p.R212Q		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	212	Coil 1B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.R212Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTGCCTTCCGAGCGGTGAGT	0.577													29	84					0	0	0	0	A	220284873	G	A	220284873	3	1	408	1	0	0	0	0	1	0	0	0	4486	1058	37	1	641	1	DES	2	220284873	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	721259	220284873	22914500	587	78405											
SPEG	10290	broad.mit.edu	37	chr2	220315987	220315988	+	Frame_Shift_Ins	INS	-	-	C																															aagtgtatcatcactgccaaINSccccccgccccaaggtgagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:220315987_220315988insC	ENST00000312358.7	+	5	2375_2376	c.2243_2244insC	c.(2242-2244)accfs	p.T748fs	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Ins_p.T644fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	748	Ig-like 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATCACTGCCAACCCCCCGCCCC	0.629													26	101	---	---	---	---					C	220315988	-	C	220315987	7	5	408	1	0	1	1	0	0	0	0	0	15126	43	2	0	2261	0	SPEG	2	220315987	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	31114	220315987	22883386	588	78406											
SPEG	10290	broad.mit.edu	37	chr2	220348596	220348596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccagggtgaggcggaGccccggggccggcaccgccg	4	4	17	16	5	1	1	0	1	1	0	2	2	1	2	6	6	1	1	6	6	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:220348596G>A	ENST00000312358.7	+	30	6543	c.6411G>A	c.(6409-6411)gaG>gaA	p.E2137E	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2137					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGAGGCGGAgccccggggcc	0.721													13	23					0	0	0	0	A	220348596	G	A	220348596	2	1	408	1	0	0	0	0	0	0	0	1	15126	962	34	4		4	SPEG	2	220348596	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	32609	220348596	22850777	589	78407											
SCG2	7857	broad.mit.edu	37	chr2	224462507	224462507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaattcttgatccttgtcGttcaggttttcatatgccat	7	18	6	10	1	3	1	2	1	1	0	5	1	4	1	3	1	1	2	3	1	2	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:224462507G>A	ENST00000305409.2	-	2	1726	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	498					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GATCCTTGTCGTTCAGGTTTT	0.453													31	121					0	0	0	0	A	224462507	G	A	224462507	2	1	408	1	0	0	0	0	0	0	0	1	13977	1136	40	1		1	SCG2	2	224462507	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4113911	224462507	18736866	590	78408											
MRPL44	65080	broad.mit.edu	37	chr2	224824585	224824585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtgtgtcacgtggctagaAacttggctgtggagcagtta	8	12	14	7	2	1	1	1	0	0	1	2	2	1	2	0	3	2	4	0	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:224824585A>G	ENST00000258383.3	+	2	583	c.514A>G	c.(514-516)Aac>Gac	p.N172D		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	172	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCTAGAAACTTGGCTGT	0.473													16	199					0	0	0	0	G	224824585	A	G	224824585	3	3	408	1	0	0	0	0	1	0	0	0	9878	14	1	5	520	5	MRPL44	2	224824585	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	362078	224824585	18374788	591	78409											
SPHKAP	80309	broad.mit.edu	37	chr2	228882035	228882035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactgcttagagggacagcTaggcctcacactgaggtggt	9	8	15	9	0	1	2	1	1	0	1	1	4	1	4	1	5	2	2	1	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:228882035T>C	ENST00000392056.3	-	7	3581	c.3535A>G	c.(3535-3537)Agc>Ggc	p.S1179G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1179G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1179						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGGACAGCTAGGCCTCACA	0.532													14	95					0	0	0	0	C	228882035	T	C	228882035	3	2	408	1	0	0	0	0	1	0	0	0	15138	1522	53	5	1591	5	SPHKAP	2	228882035	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4057450	228882035	14317338	592	78410											
SP100	6672	broad.mit.edu	37	chr2	231331885	231331885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgaggaggaggcgcccGcagaagcctcgagcggggca	9	2	18	12	4	0	2	0	1	0	1	1	5	0	4	3	5	2	2	3	5	1	0	rs144727058		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:231331885G>A	ENST00000264052.5	+	13	1601	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	SP100_ENST00000341950.4_Missense_Mutation_p.A416T|SP100_ENST00000409112.1_Missense_Mutation_p.A416T|SP100_ENST00000340126.4_Missense_Mutation_p.A416T|SP100_ENST00000409341.1_Missense_Mutation_p.A416T|SP100_ENST00000427101.2_Missense_Mutation_p.A391T|SP100_ENST00000409824.1_Missense_Mutation_p.A391T|SP100_ENST00000409897.1_Missense_Mutation_p.A381T	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	416					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGCGCCCGCAGAAGCCTC	0.527													47	169					0	0	0	0	A	231331885	G	A	231331885	3	1	408	1	0	0	0	0	1	0	0	0	15048	1087	38	1	1296	1	SP100	2	231331885	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2449850	231331885	11867488	593	78411											
PSMD1	5707	broad.mit.edu	37	chr2	231943377	231943377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatttgttgttgcaggatgCagtacggaattctgtatgtc	8	16	12	5	1	1	0	0	0	1	0	2	2	1	2	0	2	3	7	0	2	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:231943377C>T	ENST00000308696.6	+	10	1238	c.1076C>T	c.(1075-1077)gCa>gTa	p.A359V	PSMD1_ENST00000409643.1_Missense_Mutation_p.A359V|PSMD1_ENST00000373635.4_Missense_Mutation_p.A359V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	359					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTGCAGGATGCAGTACGGAAT	0.398													10	23					0	0	0	0	T	231943377	C	T	231943377	3	4	408	1	0	0	0	0	1	0	0	0	12771	710	25	4	1114	4	PSMD1	2	231943377	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	611492	231943377	11255996	594	78412											
PSMD1	5707	broad.mit.edu	37	chr2	231948419	231948419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagttggcatagctttagTaatgtatgggaggatggaag	11	12	15	3	0	0	0	0	0	0	0	0	3	0	3	0	4	2	6	0	4	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:231948419T>C	ENST00000308696.6	+	14	1826	c.1664T>C	c.(1663-1665)gTa>gCa	p.V555A	PSMD1_ENST00000409643.1_Missense_Mutation_p.V555A|PSMD1_ENST00000373635.4_Missense_Mutation_p.V555A	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	555					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATAGCTTTAGTAATGTATGGG	0.453													24	67					0	0	0	0	C	231948419	T	C	231948419	3	2	408	1	0	0	0	0	1	0	0	0	12771	1638	57	5	1718	5	PSMD1	2	231948419	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5042	231948419	11250954	595	78413											
B3GNT7	93010	broad.mit.edu	37	chr2	232262574	232262574	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accctggagccacagaaggcCcagaagccaaatggacagct	14	3	11	13	0	0	2	0	0	0	2	0	4	0	4	4	3	3	1	4	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:232262574C>A	ENST00000287590.5	+	2	405	c.144C>A	c.(142-144)gcC>gcA	p.A48A	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	48					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CACAGAAGGCCCAGAAGCCAA	0.642													19	56					3.32936e-07	3.41723e-07	1	0	A	232262574	C	A	232262574	2	1	408	1	0	0	0	0	0	0	0	1	1266	610	22	4		4	B3GNT7	2	232262574	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	314155	232262574	10936799	596	78414											
DIS3L2	129563	broad.mit.edu	37	chr2	233001426	233001426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactgcaattttgcccTggggtaggtgatctctggta	7	12	15	7	0	1	1	0	1	1	0	2	3	1	3	1	6	2	3	1	6	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233001426T>C	ENST00000325385.7	+	8	1223	c.947T>C	c.(946-948)cTg>cCg	p.L316P	DIS3L2_ENST00000409307.1_Missense_Mutation_p.L316P|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L316P|DIS3L2_ENST00000360410.4_Missense_Mutation_p.W336R	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	316							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AATTTTGCCCTGGGGTAGGTG	0.448													25	87					0	0	0	0	C	233001426	T	C	233001426	3	2	408	1	0	0	0	0	1	0	0	0	4574	1580	55	5	973	5	DIS3L2	2	233001426	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	738852	233001426	10197947	597	78415											
DIS3L2	129563	broad.mit.edu	37	chr2	233194612	233194613	+	Frame_Shift_Ins	INS	-	-	C																															caggccctgctgcgccggcaINSccccccgccccaaacaagga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233194612_233194613insC	ENST00000325385.7	+	15	2105_2106	c.1829_1830insC	c.(1828-1830)cccfs	p.P610fs	DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.P610fs|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	610							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTGCGCCGGCACCCCCCGCCCC	0.644													12	52	---	---	---	---					C	233194613	-	C	233194612	7	5	408	1	0	1	1	0	0	0	0	0	4574	159	6	0	1883	0	DIS3L2	2	233194612	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	193186	233194612	10004761	598	78416											
ALPPL2	251	broad.mit.edu	37	chr2	233274406	233274406	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggcgtgcaggagcagAccttcatagcgcacgtcatg	9	8	12	12	4	3	1	3	0	0	1	3	2	3	2	1	2	3	3	1	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233274406A>T	ENST00000295453.3	+	11	1475	c.1423A>T	c.(1423-1425)Acc>Tcc	p.T475S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	475					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCAGGAGCAGACCTTCATAGC	0.741													8	34					0	0	0	0	T	233274406	A	T	233274406	3	4	408	1	0	0	0	0	1	0	0	0	549	275	10	5	1465	5	ALPPL2	2	233274406	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	79794	233274406	9924967	599	78417											
CHRND	1144	broad.mit.edu	37	chr2	233392148	233392148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcactaccaatgtgtggaTagagcacgtaagaatgcccc	12	8	9	12	1	1	2	1	0	0	2	1	3	1	3	4	1	3	2	4	1	5	3	rs121909509		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233392148T>C	ENST00000258385.3	+	3	268	c.236T>C	c.(235-237)aTa>aCa	p.I79T	CHRND_ENST00000536614.1_Missense_Mutation_p.I79T|CHRND_ENST00000543200.1_Intron|CHRND_ENST00000457943.2_5'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	79					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AATGTGTGGATAGAGCACGTA	0.537													32	89					0	0	0	0	C	233392148	T	C	233392148	3	2	408	1	0	0	0	0	1	0	0	0	3423	1406	49	5	246	5	CHRND	2	233392148	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	117742	233392148	9807225	600	78418											
CHRND	1144	broad.mit.edu	37	chr2	233392981	233392981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggattccagggctggacaGacaaccggctgaagtggaat	11	7	15	8	1	0	2	0	1	0	1	1	5	1	5	2	5	1	2	2	5	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233392981G>T	ENST00000258385.3	+	4	285	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	CHRND_ENST00000536614.1_Missense_Mutation_p.D85Y|CHRND_ENST00000543200.1_Missense_Mutation_p.D70Y|CHRND_ENST00000457943.2_5'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	85					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GGGCTGGACAGACAACCGGCT	0.572													12	58					1.08611e-07	1.11655e-07	1	0	T	233392981	G	T	233392981	3	4	408	1	0	0	0	0	1	0	0	0	3423	942	33	2	267	2	CHRND	2	233392981	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	833	233392981	9806392	601	78419											
CHRNG	1146	broad.mit.edu	37	chr2	233404727	233404727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccggaaccaggaggaGcgcctgctcgcagacctgat	9	4	15	13	3	0	2	0	1	0	1	1	5	0	5	4	4	3	2	4	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233404727G>T	ENST00000389494.3	+	2	102	c.81G>T	c.(79-81)gaG>gaT	p.E27D	CHRNG_ENST00000389492.3_Missense_Mutation_p.E27D	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	27					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACCAGGAGGAGCGCCTGCTCG	0.632													17	51					1.67942e-08	1.73241e-08	1	0	T	233404727	G	T	233404727	3	4	408	1	0	0	0	0	1	0	0	0	3425	962	34	4	87	4	CHRNG	2	233404727	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	11746	233404727	9794646	602	78420											
CHRNG	1146	broad.mit.edu	37	chr2	233406216	233406216	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctacttccccttcgactgGcagaactgctcccttatctt	7	13	5	16	1	1	1	0	0	1	1	4	2	3	1	4	1	3	2	4	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233406216G>A	ENST00000389494.3	+	5	504	c.483G>A	c.(481-483)tgG>tgA	p.W161*	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	161					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCTTCGACTGGCAGAACTGCT	0.582													6	181					0	0	0	0	A	233406216	G	A	233406216	4	1	408	1	0	0	0	0	0	1	0	0	3425	1212	42	4	501	4	CHRNG	2	233406216	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1489	233406216	9793157	603	78421											
CHRNG	1146	broad.mit.edu	37	chr2	233408002	233408002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagctgggggccagaagtgtAccgtcgccatcaacgtgctc	8	8	13	12	3	1	1	1	0	0	1	3	1	1	1	3	2	4	3	3	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233408002A>G	ENST00000389494.3	+	8	844	c.823A>G	c.(823-825)Acc>Gcc	p.T275A	CHRNG_ENST00000389492.3_Missense_Mutation_p.T223A	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	275					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCAGAAGTGTACCGTCGCCAT	0.597													14	50					0	0	0	0	G	233408002	A	G	233408002	3	3	408	1	0	0	0	0	1	0	0	0	3425	391	14	5	853	5	CHRNG	2	233408002	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1786	233408002	9791371	604	78422											
INPP5D	3635	broad.mit.edu	37	chr2	233944059	233944059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaggtatcggaattgcgTttacacttacagaattctgc	10	15	8	8	2	2	1	1	0	1	1	3	2	2	2	0	2	4	2	0	2	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233944059T>C	ENST00000359570.5	+	2	149	c.149T>C	c.(148-150)gTt>gCt	p.V50A	INPP5D_ENST00000538935.1_Missense_Mutation_p.V50A			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	50	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGAATTGCGTTTACACTTAC	0.408													9	63					0	0	0	0	C	233944059	T	C	233944059	3	2	408	1	0	0	0	0	1	0	0	0	7809	1725	60	5	155	5	INPP5D	2	233944059	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	536057	233944059	9255314	605	78423											
INPP5D	3635	broad.mit.edu	37	chr2	233995270	233995270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatttaagcactcagctcGcccaggactctgaatttgtg	10	13	8	10	1	2	1	1	1	1	0	3	2	2	2	1	1	2	2	1	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233995270G>A	ENST00000359570.5	+	5	577	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	INPP5D_ENST00000538935.1_Missense_Mutation_p.A193T|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	193					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACTCAGCTCGCCCAGGACTC	0.453													12	42					0	0	0	0	A	233995270	G	A	233995270	3	1	408	1	0	0	0	0	1	0	0	0	7809	1087	38	1	595	1	INPP5D	2	233995270	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	51211	233995270	9204103	606	78424											
DGKD	8527	broad.mit.edu	37	chr2	234378054	234378054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggccacatgaagaggaTcctgtgtggcatcaaggagc	10	7	16	8	0	1	2	1	1	0	1	2	4	2	4	2	5	1	1	2	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234378054T>C	ENST00000264057.2	+	30	3605	c.3593T>C	c.(3592-3594)aTc>aCc	p.I1198T	DGKD_ENST00000409813.3_Missense_Mutation_p.I1154T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1198	SAM.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATGAAGAGGATCCTGTGTGGC	0.662													3	16					0	0	0	0	C	234378054	T	C	234378054	3	2	408	1	0	0	0	0	1	0	0	0	4504	1435	50	5	3735	5	DGKD	2	234378054	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	382784	234378054	8821319	607	78425											
USP40	55230	broad.mit.edu	37	chr2	234402104	234402104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctccaaactctgccccAagacgaagtacagttggtct	10	9	9	13	1	3	1	0	0	3	1	4	2	3	1	3	2	3	3	3	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234402104A>G	ENST00000251722.6	-	25	2998	c.2881T>C	c.(2881-2883)Tgg>Cgg	p.W961R	USP40_ENST00000409945.1_Missense_Mutation_p.W137R|USP40_ENST00000427112.2_Missense_Mutation_p.W961R|USP40_ENST00000450966.1_Missense_Mutation_p.W973R			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	961					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACTCTGCCCCAAGACGAAGTA	0.522													6	27					0	0	0	0	G	234402104	A	G	234402104	3	3	408	1	0	0	0	0	1	0	0	0	17168	130	5	5	858	5	USP40	2	234402104	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	24050	234402104	8797269	608	78426											
UGT1A9	54600	broad.mit.edu	37	chr2	234580711	234580711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcaccatgaggtcggTggtggagaaactcattctca	9	11	12	9	1	3	2	3	1	1	1	5	3	3	2	1	5	1	1	1	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234580711T>C	ENST00000354728.4	+	1	213	c.131T>C	c.(130-132)gTg>gCg	p.V44A	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		ATGAGGTCGGTGGTGGAGAAA	0.537													4	122					0	0	0	0	C	234580711	T	C	234580711	3	2	408	1	0	0	0	0	1	0	0	0	17048	1696	59	5	133	5	UGT1A9	2	234580711	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	178607	234580711	8618662	609	78427											
UGT1A3	54659	broad.mit.edu	37	chr2	234638394	234638394	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagaccacatgacattcAtgcaaagggtcaagaacatg	16	8	8	9	0	3	3	3	1	0	2	3	3	3	3	1	1	2	1	1	1	3	2	rs140766748	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234638394A>C	ENST00000482026.1	+	1	641	c.622A>C	c.(622-624)Atg>Ctg	p.M208L	UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019093.2	NP_061966.1												p.M208L(5)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CATGACATTCATGCAAAGGGT	0.443													5	318					0	0	0	0	C	234638394	A	C	234638394	3	2	408	1	0	0	0	0	1	0	0	0	17042	217	8	5	624	5	UGT1A3	2	234638394	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	57683	234638394	8560979	610	78428											
UGT1A3	54659	broad.mit.edu	37	chr2	234638471	234638471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttctgctccttatgcaagCcttgcctctgagctttttca	5	18	6	12	0	3	1	1	1	2	0	4	1	4	1	3	0	5	3	3	0	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234638471C>T	ENST00000482026.1	+	1	718	c.699C>T	c.(697-699)agC>agT	p.S233S	UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTTATGCAAGCCTTGCCTCTG	0.493													29	323					0	0	0	0	T	234638471	C	T	234638471	2	4	408	1	0	0	0	0	0	0	0	1	17042	738	26	4		4	UGT1A3	2	234638471	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	77	234638471	8560902	611	78429											
UGT1A1	54658	broad.mit.edu	37	chr2	234669627	234669627	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttattccccgtatgcaAcccttgcctcagaattcctt	7	15	6	13	1	1	1	1	0	0	1	3	1	3	1	5	1	3	3	5	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234669627A>G	ENST00000360418.3	+	1	694	c.694A>G	c.(694-696)Acc>Gcc	p.T232A	UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.T232A|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron			P22309	UD11_HUMAN		232					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCGTATGCAACCCTTGCCTC	0.483													20	188					0	0	0	0	G	234669627	A	G	234669627	3	3	408	1	0	0	0	0	1	0	0	0	17040	43	2	5	696	5	UGT1A1	2	234669627	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	31156	234669627	8529746	612	78430											
ARL4C	10123	broad.mit.edu	37	chr2	235404658	235404660	+	In_Frame_Del	DEL	CTT	CTT	-																															tcgctccgggcgcattaccgCttcttcttctgcttgaggga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:235404658_235404660delCTT	ENST00000390645.2	-	1	1037_1039	c.571_573delAAG	c.(571-573)del	p.K191del	ARL4C_ENST00000339728.3_In_Frame_Del_p.K191del	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	191					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CGCATTACCGCTTCTTCTTCTGC	0.581													16	64	---	---	---	---					-	235404660	CTT	-	235404658	7	5	408	1	0	1	0	1	0	0	0	0	941	796	28	0	9	0	ARL4C	2	235404658	In_Frame_Del	DEL	CTT	TCGA-F7-A624-01A-22D-A30E-08	735031	235404658	7794715	613	78431											
SH3BP4	23677	broad.mit.edu	37	chr2	235950891	235950891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccttcaagacggtagtgaCcatttttgggcatgactgtg	9	13	11	8	1	1	3	1	2	0	1	2	3	2	3	2	2	0	2	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:235950891C>T	ENST00000409212.1	+	4	1985	c.1478C>T	c.(1477-1479)aCc>aTc	p.T493I	SH3BP4_ENST00000392011.2_Missense_Mutation_p.T493I|SH3BP4_ENST00000344528.4_Missense_Mutation_p.T493I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	493					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACGGTAGTGACCATTTTTGGG	0.572													27	71					0	0	0	0	T	235950891	C	T	235950891	3	4	408	1	0	0	0	0	1	0	0	0	14333	507	18	4	1484	4	SH3BP4	2	235950891	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	546233	235950891	7248482	614	78432											
SH3BP4	23677	broad.mit.edu	37	chr2	235951562	235951562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggcctcgtgcacaccAagaacgtgctggtggtcggc	6	7	17	11	3	0	1	0	0	0	1	2	1	0	1	2	5	3	2	2	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:235951562A>G	ENST00000409212.1	+	4	2656	c.2149A>G	c.(2149-2151)Aag>Gag	p.K717E	SH3BP4_ENST00000392011.2_Missense_Mutation_p.K717E|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K717E			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	717					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGTGCACACCAAGAACGTGCT	0.687													25	86					0	0	0	0	G	235951562	A	G	235951562	3	3	408	1	0	0	0	0	1	0	0	0	14333	131	5	5	2155	5	SH3BP4	2	235951562	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	671	235951562	7247811	615	78433											
COL6A3	1293	broad.mit.edu	37	chr2	238244938	238244938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgttgctggcttcacCgccactgggggtctaacagt	5	10	13	13	2	2	0	1	0	1	0	2	0	2	0	3	3	3	4	3	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238244938C>T	ENST00000295550.4	-	40	9257	c.8805G>A	c.(8803-8805)gcG>gcA	p.A2935A	COL6A3_ENST00000409809.1_Silent_p.A2729A|COL6A3_ENST00000346358.4_Silent_p.A2735A|COL6A3_ENST00000347401.3_Silent_p.A2734A|COL6A3_ENST00000472056.1_Silent_p.A2328A|COL6A3_ENST00000353578.4_Silent_p.A2729A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2935	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGCTTCACCGCCACTGGGG	0.627													42	133					0	0	0	0	T	238244938	C	T	238244938	2	4	408	1	0	0	0	0	0	0	0	1	3731	639	23	1		1	COL6A3	2	238244938	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2293376	238244938	4954435	616	78434											
COL6A3	1293	broad.mit.edu	37	chr2	238274458	238274458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttctcgagcatctctggCtggtactcgtcaaagtcaaa	11	11	8	11	2	4	0	2	0	2	0	7	1	4	0	0	2	3	3	0	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238274458C>T	ENST00000295550.4	-	12	6173	c.5721G>A	c.(5719-5721)caG>caA	p.Q1907Q	COL6A3_ENST00000409809.1_Silent_p.Q1701Q|COL6A3_ENST00000346358.4_Silent_p.Q1707Q|COL6A3_ENST00000347401.3_Silent_p.Q1706Q|COL6A3_ENST00000472056.1_Silent_p.Q1300Q|COL6A3_ENST00000353578.4_Silent_p.Q1701Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1907	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATCTCTGGCTGGTACTCGT	0.627													36	120					0	0	0	0	T	238274458	C	T	238274458	2	4	408	1	0	0	0	0	0	0	0	1	3731	796	28	4		4	COL6A3	2	238274458	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	29520	238274458	4924915	617	78435											
COL6A3	1293	broad.mit.edu	37	chr2	238280912	238280912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctatgagggtgcgaacgtActggaactcaggcccggcac	9	7	13	12	3	2	1	1	1	1	0	2	3	2	2	1	4	4	2	1	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238280912A>G	ENST00000295550.4	-	9	4200	c.3748T>C	c.(3748-3750)Tac>Cac	p.Y1250H	COL6A3_ENST00000409809.1_Missense_Mutation_p.Y1044H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Y1044H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Y1050H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Y843H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Y1049H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Y643H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Y1044H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1250	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGCGAACGTACTGGAACTCA	0.567													5	88					0	0	0	0	G	238280912	A	G	238280912	3	3	408	1	0	0	0	0	1	0	0	0	3731	391	14	5	5976	5	COL6A3	2	238280912	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6454	238280912	4918461	618	78436											
RBM44	375316	broad.mit.edu	37	chr2	238727040	238727040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaccttctgtagtatctaCatcaagcaacacagagataa	17	9	6	9	0	3	2	1	0	2	2	3	3	3	2	1	0	3	3	1	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238727040C>T	ENST00000316997.4	+	3	1613	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I	RBM44_ENST00000409864.1_Missense_Mutation_p.T494I|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	493							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GTAGTATCTACATCAAGCAAC	0.393													14	61					0	0	0	0	T	238727040	C	T	238727040	3	4	408	1	0	0	0	0	1	0	0	0	13220	478	17	4	1487	4	RBM44	2	238727040	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	446128	238727040	4472333	619	78437											
RBM44	375316	broad.mit.edu	37	chr2	238728941	238728941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactatcagatgtgtcgtcgCcattgttgtgatatttacaa	10	15	8	8	2	1	2	1	1	0	1	3	2	1	2	1	0	1	1	1	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238728941C>T	ENST00000316997.4	+	5	1995	c.1863C>T	c.(1861-1863)cgC>cgT	p.R621R	RBM44_ENST00000409864.1_Silent_p.R621R|RBM44_ENST00000444524.2_3'UTR	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	620							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTGTCGTCGCCATTGTTGTG	0.353													4	22					0	0	0	0	T	238728941	C	T	238728941	2	4	408	1	0	0	0	0	0	0	0	1	13220	726	26	4		4	RBM44	2	238728941	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1901	238728941	4470432	620	78438											
SCLY	51540	broad.mit.edu	37	chr2	238990440	238990440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgaccacacgcctcgtgaCcatcatgctggccaacaatg	10	6	8	17	3	1	1	1	1	0	0	2	2	1	1	5	1	2	1	5	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238990440C>T	ENST00000254663.6	+	5	741	c.599C>T	c.(598-600)aCc>aTc	p.T200I	SCLY_ENST00000409736.2_Missense_Mutation_p.T192I|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.T98I|SCLY_ENST00000555827.1_Missense_Mutation_p.T192I|SCLY_ENST00000373332.3_Missense_Mutation_p.T110I	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	192					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGCCTCGTGACCATCATGCTG	0.572													21	61					0	0	0	0	T	238990440	C	T	238990440	3	4	408	1	0	0	0	0	1	0	0	0	13994	507	18	4	593	4	SCLY	2	238990440	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	261499	238990440	4208933	621	78439											
HDAC4	9759	broad.mit.edu	37	chr2	240111605	240111605	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaactcagcgatgaggAtctgcctctggatctgctgc	7	11	12	11	1	5	1	1	1	4	0	5	5	5	4	1	3	5	1	1	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:240111605A>T	ENST00000345617.3	-	4	1054	c.263T>A	c.(262-264)aTc>aAc	p.I88N	HDAC4_ENST00000541256.1_Missense_Mutation_p.I57N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	88					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCGATGAGGATCTGCCTCTG	0.667													18	36					0	0	0	0	T	240111605	A	T	240111605	3	4	408	1	0	0	0	0	1	0	0	0	7059	333	12	5	3087	5	HDAC4	2	240111605	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1121165	240111605	3087768	622	78440											
CAPN10	11132	broad.mit.edu	37	chr2	241534605	241534605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagagatccaggctgCacgcggcggactgggcaggc	7	5	16	13	3	0	1	0	0	0	1	2	3	2	2	2	5	2	4	2	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:241534605C>T	ENST00000391984.2	+	7	1358	c.1162C>T	c.(1162-1164)Cac>Tac	p.H388Y	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.H388Y|CAPN10_ENST00000404753.3_Missense_Mutation_p.H388Y|CAPN10_ENST00000391982.2_Missense_Mutation_p.H388Y	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	388	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATCCAGGCTGCACGCGGCGGA	0.647													30	93					0	0	0	0	T	241534605	C	T	241534605	3	4	408	1	0	0	0	0	1	0	0	0	2648	710	25	4	1188	4	CAPN10	2	241534605	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1423000	241534605	1664768	623	78441											
KIF1A	547	broad.mit.edu	37	chr2	241658575	241658575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcccagcctgacgtgtgcgGctccaggaagtgcaggtacc	7	6	15	13	2	0	1	0	1	0	0	1	2	1	2	4	4	4	3	4	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:241658575G>A	ENST00000498729.2	-	47	5308	c.5062C>T	c.(5062-5064)Ccg>Tcg	p.P1688S	KIF1A_ENST00000320389.7_Missense_Mutation_p.P1587S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1587					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACGTGTGCGGCTCCAGGAAG	0.647													10	166					0	0	0	0	A	241658575	G	A	241658575	3	1	408	1	0	0	0	0	1	0	0	0	8334	1203	42	4	325	4	KIF1A	2	241658575	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	123970	241658575	1540798	624	78442											
KIF1A	547	broad.mit.edu	37	chr2	241700726	241700726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggtcccgcagagacgTgaactggtaccacttccact	10	7	10	14	2	0	2	0	1	0	1	2	3	2	2	3	2	3	3	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:241700726T>C	ENST00000498729.2	-	24	2431	c.2185A>G	c.(2185-2187)Acg>Gcg	p.T729A	KIF1A_ENST00000320389.7_Missense_Mutation_p.T720A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	720					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCAGAGACGTGAACTGGTAC	0.612													5	115					0	0	0	0	C	241700726	T	C	241700726	3	2	408	1	0	0	0	0	1	0	0	0	8334	1696	59	5	3014	5	KIF1A	2	241700726	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	42151	241700726	1498647	625	78443											
AGXT	189	broad.mit.edu	37	chr2	241808594	241808594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgcatgcagatcatggAcgagatcaaggaaggcatcc	13	5	11	12	2	2	2	2	0	0	2	3	5	3	4	2	3	1	3	2	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:241808594A>G	ENST00000307503.3	+	2	560	c.173A>G	c.(172-174)gAc>gGc	p.D58G		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	58					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGATCATGGACGAGATCAAG	0.622													5	119					0	0	0	0	G	241808594	A	G	241808594	3	3	408	1	0	0	0	0	1	0	0	0	404	275	10	5	179	5	AGXT	2	241808594	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	107868	241808594	1390779	626	78444											
PASK	23178	broad.mit.edu	37	chr2	242046021	242046021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatccccgggatgcaaacagCcttggccattaggagcctcg	9	7	12	13	2	0	0	0	0	0	0	2	3	1	2	5	3	4	1	5	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242046021C>T	ENST00000405260.1	-	18	4630	c.3932G>A	c.(3931-3933)gGc>gAc	p.G1311D	PASK_ENST00000358649.4_Missense_Mutation_p.G1318D|PASK_ENST00000234040.4_Missense_Mutation_p.G1311D|PASK_ENST00000544142.1_Missense_Mutation_p.G1125D|PASK_ENST00000539818.1_Missense_Mutation_p.G1095D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1311					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATGCAAACAGCCTTGGCCATT	0.572													11	292					0	0	0	0	T	242046021	C	T	242046021	3	4	408	1	0	0	0	0	1	0	0	0	11543	739	26	4	43	4	PASK	2	242046021	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	237427	242046021	1153352	627	78445											
PPP1R7	5510	broad.mit.edu	37	chr2	242105761	242105761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttgcagagcaaccggCtgaccaagatcgagggtctg	9	7	12	13	2	2	3	0	1	2	2	3	4	2	3	3	2	3	3	3	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242105761C>T	ENST00000234038.6	+	8	1198	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000404405.3_Silent_p.L236L|PPP1R7_ENST00000402734.1_Silent_p.L183L|PPP1R7_ENST00000407025.1_Silent_p.L242L|PPP1R7_ENST00000272983.8_Silent_p.L199L|PPP1R7_ENST00000401987.1_Silent_p.L199L|PPP1R7_ENST00000406106.3_Silent_p.L242L	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	242						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GAGCAACCGGCTGACCAAGAT	0.498													9	31					0	0	0	0	T	242105761	C	T	242105761	2	4	408	1	0	0	0	0	0	0	0	1	12452	796	28	4		4	PPP1R7	2	242105761	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	59740	242105761	1093612	628	78446											
HDLBP	3069	broad.mit.edu	37	chr2	242174626	242174626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcgaggcccgtgatggcGatgatgtcagactgcagctc	8	7	15	11	3	1	3	1	2	0	1	2	5	1	3	1	2	3	3	1	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242174626G>A	ENST00000391975.1	-	23	3281	c.3054C>T	c.(3052-3054)atC>atT	p.I1018I	HDLBP_ENST00000310931.4_Silent_p.I1018I|HDLBP_ENST00000391976.2_Silent_p.I1018I|HDLBP_ENST00000427183.2_Silent_p.I985I	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1018	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCGTGATGGCGATGATGTCAG	0.597													4	133					0	0	0	0	A	242174626	G	A	242174626	2	1	408	1	0	0	0	0	0	0	0	1	7075	1048	37	1		1	HDLBP	2	242174626	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	68865	242174626	1024747	629	78447											
ING5	84289	broad.mit.edu	37	chr2	242650899	242650899	+	Frame_Shift_Del	DEL	A	A	-																															agctccggagggcgagggttAaaaagcaagtctgttaattt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242650899delA	ENST00000313552.6	+	4	410	c.384delA	c.(382-384)ttfs	p.L128fs	ING5_ENST00000406941.1_Frame_Shift_Del_p.L128fs|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	128					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGCGAGGGTTAAAAAGCAAGT	0.398													27	99	---	---	---	---					-	242650899	A	-	242650899	7	5	408	1	0	1	0	1	0	0	0	0	7792	359	13	0	398	0	ING5	2	242650899	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	476273	242650899	548474	630	78448											
D2HGDH	728294	broad.mit.edu	37	chr2	242680504	242680504	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtgtcccacatcctcAggtgaggtggtggctcccgg	6	8	16	11	1	1	1	1	1	0	0	4	2	4	2	3	7	0	1	3	7	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242680504A>G	ENST00000321264.4	+	3	558	c.350_splice	c.e3+1	p.R117_splice	D2HGDH_ENST00000342518.6_Splice_Site_p.R117_splice|D2HGDH_ENST00000537090.1_Splice_Site_p.R117_splice|D2HGDH_ENST00000403782.1_5'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	117	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCACATCCTCAGGTGAGGTGG	0.637													4	33					0	0	0	0	G	242680504	A	G	242680504	5	3	408	1	0	0	0	0	0	0	1	0	4246	202	7	5	355	5	D2HGDH	2	242680504	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	29605	242680504	518869	631	78449											
NEU4	129807	broad.mit.edu	37	chr2	242757535	242757535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctacagcgatgaccacGgccgcacctggcgctgtgga	7	7	12	15	4	1	1	0	1	1	0	1	3	1	2	4	3	2	2	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242757535G>A	ENST00000391969.2	+	5	1327	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	NEU4_ENST00000325935.6_Missense_Mutation_p.G219S|NEU4_ENST00000407683.1_Missense_Mutation_p.G206S|NEU4_ENST00000405370.1_Missense_Mutation_p.G206S|NEU4_ENST00000404257.1_Missense_Mutation_p.G218S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	206						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CGATGACCACGGCCGCACCTG	0.677													18	21					0	0	0	0	A	242757535	G	A	242757535	3	1	408	1	0	0	0	0	1	0	0	0	10414	1116	39	1	669	1	NEU4	2	242757535	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	77031	242757535	441838	632	78450											
LRRN1	57633	broad.mit.edu	37	chr3	3887524	3887524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccctgtccatgttctgtgCcatgccgcccgaatataaag	8	10	9	14	2	1	0	0	0	1	0	2	1	2	0	6	0	2	1	6	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:3887524C>T	ENST00000319331.3	+	2	1960	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	400	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATGTTCTGTGCCATGCCGCCC	0.488													29	101					0	0	0	0	T	3887524	C	T	3887524	3	4	408	1	0	0	0	0	1	0	0	0	9098	739	26	4	1201	4	LRRN1	3	3887524	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08		3887524	194134906	633	78451											
SETMAR	6419	broad.mit.edu	37	chr3	4355021	4355021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattatagccatcagggaacAtgtttataatgggcaggtaa	14	11	10	6	0	1	0	1	0	0	0	1	1	1	1	1	3	2	3	1	3	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:4355021A>G	ENST00000358065.4	+	2	663	c.596A>G	c.(595-597)cAt>cGt	p.H199R	SETMAR_ENST00000430981.1_Missense_Mutation_p.H199R|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	186	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATCAGGGAACATGTTTATAAT	0.358								Chromatin Structure					9	90					0	0	0	0	G	4355021	A	G	4355021	3	3	408	1	0	0	0	0	1	0	0	0	14227	217	8	5	602	5	SETMAR	3	4355021	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	467497	4355021	193667409	634	78452											
ITPR1	3708	broad.mit.edu	37	chr3	4681107	4681107	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagcagaatgagacagaaAacaggaaattgctggggacc	18	4	13	6	0	0	4	0	1	0	4	0	7	0	6	1	3	3	2	1	3	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:4681107A>C	ENST00000354582.6	+	6	669	c.319A>C	c.(319-321)Aac>Cac	p.N107H	ITPR1_ENST00000443694.2_Missense_Mutation_p.N107H|ITPR1_ENST00000456211.2_Missense_Mutation_p.N107H|ITPR1_ENST00000423119.2_Missense_Mutation_p.N107H|ITPR1_ENST00000302640.8_Missense_Mutation_p.N107H|ITPR1_ENST00000357086.4_Missense_Mutation_p.N107H|ITPR1_ENST00000544951.1_Missense_Mutation_p.N107H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	107					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGAGACAGAAAACAGGAAATT	0.463													7	11					0	0	0	0	C	4681107	A	C	4681107	3	2	408	1	0	0	0	0	1	0	0	0	7973	14	1	5	333	5	ITPR1	3	4681107	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	326086	4681107	193341323	635	78453											
ITPR1	3708	broad.mit.edu	37	chr3	4715983	4715983	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagatgtggtttgtcagAggttccctttctctgataaa	10	15	10	6	0	2	3	1	1	1	2	4	4	3	3	1	2	0	2	1	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:4715983A>C	ENST00000354582.6	+	22	2904	c.2554A>C	c.(2554-2556)Agg>Cgg	p.R852R	ITPR1_ENST00000443694.2_Silent_p.R837R|ITPR1_ENST00000456211.2_Silent_p.R837R|ITPR1_ENST00000423119.2_Silent_p.R852R|ITPR1_ENST00000302640.8_Silent_p.R837R|ITPR1_ENST00000357086.4_Silent_p.R852R|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	852					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGTTTGTCAGAGGTTCCCTTT	0.388													4	7					0	0	0	0	C	4715983	A	C	4715983	2	2	408	1	0	0	0	0	0	0	0	1	7973	295	11	5		5	ITPR1	3	4715983	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	34876	4715983	193306447	636	78454											
ITPR1	3708	broad.mit.edu	37	chr3	4856176	4856176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctgctgatgtgcattgTcactgtgctgagtcacgggc	6	11	14	10	2	2	2	2	2	0	0	2	3	2	2	0	1	3	4	0	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:4856176T>C	ENST00000354582.6	+	57	7936	c.7586T>C	c.(7585-7587)gTc>gCc	p.V2529A	ITPR1_ENST00000456211.2_Missense_Mutation_p.V2481A|ITPR1_ENST00000443694.2_Missense_Mutation_p.V2529A|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2496A|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2496A|ITPR1_ENST00000302640.8_Missense_Mutation_p.V2529A|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.V507A			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2544	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATGTGCATTGTCACTGTGCTG	0.537													33	78					0	0	0	0	C	4856176	T	C	4856176	3	2	408	1	0	0	0	0	1	0	0	0	7973	1667	58	5	7853	5	ITPR1	3	4856176	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	140193	4856176	193166254	637	78455											
GRM7	2917	broad.mit.edu	37	chr3	7620598	7620598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttgggtatgtgcatcAgttatgcagccctcttgacg	6	13	13	9	1	2	1	1	1	1	0	2	1	2	1	1	2	3	5	1	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:7620598A>T	ENST00000486284.1	+	8	2279	c.2005A>T	c.(2005-2007)Agt>Tgt	p.S669C	GRM7_ENST00000357716.4_Missense_Mutation_p.S669C|GRM7_ENST00000403881.1_Missense_Mutation_p.S669C|GRM7_ENST00000389336.4_Missense_Mutation_p.S669C|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.S669C	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	669					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TATGTGCATCAGTTATGCAGC	0.448													25	80					0	0	0	0	T	7620598	A	T	7620598	3	4	408	1	0	0	0	0	1	0	0	0	6852	188	7	5	2035	5	GRM7	3	7620598	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2764422	7620598	190401832	638	78456											
RAD18	56852	broad.mit.edu	37	chr3	8955357	8955357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttactagcttcaagacGcatcctagtcttctctatat	10	15	6	10	1	3	1	1	0	2	1	5	2	4	1	1	0	2	3	1	0	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:8955357G>A	ENST00000264926.2	-	8	1053	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	313					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		GCTTCAAGACGCATCCTAGTC	0.308								Rad6 pathway					5	27					0	0	0	0	A	8955357	G	A	8955357	3	1	408	1	0	0	0	0	1	0	0	0	13062	1087	38	1	574	1	RAD18	3	8955357	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1334759	8955357	189067073	639	78457											
RAD18	56852	broad.mit.edu	37	chr3	8990250	8990250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattttcttatacagagagaGcagtctgcaaaacacaaagt	17	10	7	7	0	2	2	0	0	2	2	2	3	2	2	0	0	4	2	0	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:8990250G>A	ENST00000264926.2	-	3	254	c.138C>T	c.(136-138)tgC>tgT	p.C46C	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	46					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TACAGAGAGAGCAGTCTGCAA	0.333								Rad6 pathway					17	138					0	0	0	0	A	8990250	G	A	8990250	2	1	408	1	0	0	0	0	0	0	0	1	13062	963	34	4		4	RAD18	3	8990250	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	34893	8990250	189032180	640	78458											
SRGAP3	9901	broad.mit.edu	37	chr3	9034600	9034600	+	Frame_Shift_Del	DEL	C	C	-																															catatcctaccggcccatcaCccccccaaagccgtaatccg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:9034600delC	ENST00000383836.3	-	20	2975	c.2548delG	c.(2548-2550)tgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGGCCCATCACCCCCCCAAAG	0.557			T	RAF1	pilocytic astrocytoma								7	167	---	---	---	---					-	9034600	C	-	9034600	7	5	408	1	0	1	0	1	0	0	0	0	15237	507	18	0	763	0	SRGAP3	3	9034600	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	44350	9034600	188987830	641	78459											
MTMR14	64419	broad.mit.edu	37	chr3	9703965	9703965	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttaggtttgagagtaccgTacaggtgagcaagttgcaag	11	11	14	5	1	0	2	0	2	0	1	0	3	0	2	1	2	4	7	1	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:9703965T>C	ENST00000296003.4	+	3	445	c.323T>C	c.(322-324)gTa>gCa	p.V108A	MTMR14_ENST00000351233.5_Missense_Mutation_p.V108A|MTMR14_ENST00000353332.5_Missense_Mutation_p.V108A|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	108						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GAGAGTACCGTACAGGTGAGC	0.507													22	56					0	0	0	0	C	9703965	T	C	9703965	3	2	408	1	0	0	0	0	1	0	0	0	10012	1638	57	5	333	5	MTMR14	3	9703965	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	669365	9703965	188318465	642	78460											
BRPF1	7862	broad.mit.edu	37	chr3	9782627	9782627	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaactgtgaccaagttggggTactgtgtccagttccctgtg	7	12	13	9	0	0	1	0	1	0	0	2	2	2	1	3	2	2	3	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:9782627T>C	ENST00000383829.2	+	4	2126		c.e4+2		BRPF1_ENST00000457855.1_Splice_Site|BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000424362.1_Splice_Site	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1						histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAAGTTGGGGTACTGTGTCCA	0.537													8	25					0	0	0	0	C	9782627	T	C	9782627	5	2	408	1	0	0	0	0	0	0	1	0	1528	1652	57	5	1734	5	BRPF1	3	9782627	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	78662	9782627	188239803	643	78461											
IL17RC	84818	broad.mit.edu	37	chr3	9972629	9972629	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccccatggacaaatgTgagtattgtaagaactgcct	11	10	10	10	0	0	2	0	1	0	1	0	3	0	3	4	1	3	2	4	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:9972629T>C	ENST00000295981.3	+	16	1818		c.e16+2		IL17RC_ENST00000383812.4_Splice_Site|IL17RC_ENST00000498214.1_Splice_Site|IL17RC_ENST00000455057.1_Splice_Site|IL17RC_ENST00000416074.2_Splice_Site|IL17RC_ENST00000413608.1_Splice_Site|IL17RC_ENST00000403601.3_Splice_Site	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C							integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGACAAATGTGAGTATTGTA	0.522													55	147					0	0	0	0	C	9972629	T	C	9972629	5	2	408	1	0	0	0	0	0	0	1	0	7694	1710	59	5	1664	5	IL17RC	3	9972629	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	190002	9972629	188049801	644	78462											
FANCD2	2177	broad.mit.edu	37	chr3	10081025	10081025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaactaaaatggcttgacaGagttgtggatggcaaggtag	13	10	13	5	0	1	2	1	1	0	1	1	3	1	3	0	4	1	4	0	4	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:10081025G>C	ENST00000287647.3	+	8	647	c.554G>C	c.(553-555)aGa>aCa	p.R185T	FANCD2_ENST00000438741.1_3'UTR|FANCD2_ENST00000431693.1_Missense_Mutation_p.R185T|FANCD2_ENST00000419585.1_Missense_Mutation_p.R185T|FANCD2_ENST00000383807.1_Missense_Mutation_p.R185T|FANCD2_ENST00000383806.1_Missense_Mutation_p.R185T	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	185	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGCTTGACAGAGTTGTGGAT	0.358			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	24					0	0	0	0	C	10081025	G	C	10081025	3	2	408	1	0	0	0	0	1	0	0	0	5710	942	33	2	580	2	FANCD2	3	10081025	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	108396	10081025	187941405	645	78463											
IQSEC1	9922	broad.mit.edu	37	chr3	12977561	12977561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcccccagcccgtagccGcaggtccgactcggtgctgg	4	6	14	17	5	0	0	0	0	0	0	2	1	1	0	5	3	4	3	5	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:12977561G>A	ENST00000273221.4	-	3	1213	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	333					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCCGTAGCCGCAGGTCCGAC	0.682													28	73					0	0	0	0	A	12977561	G	A	12977561	3	1	408	1	0	0	0	0	1	0	0	0	7870	1086	38	1	2487	1	IQSEC1	3	12977561	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2896536	12977561	185044869	646	78464											
FBLN2	2199	broad.mit.edu	37	chr3	13679345	13679345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctggacgtggagatgAagctctggaggcagggctcc	7	8	16	10	1	1	2	0	1	1	1	2	5	2	4	2	5	2	3	2	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:13679345A>G	ENST00000404922.3	+	18	3741	c.3622A>G	c.(3622-3624)Aag>Gag	p.K1208E	FBLN2_ENST00000295760.7_Missense_Mutation_p.K1161E|FBLN2_ENST00000492059.1_Missense_Mutation_p.K1208E|FBLN2_ENST00000535798.1_Missense_Mutation_p.K1187E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1161						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGTGGAGATGAAGCTCTGGAG	0.642													13	208					0	0	0	0	G	13679345	A	G	13679345	3	3	408	1	0	0	0	0	1	0	0	0	5744	247	9	5	2378	5	FBLN2	3	13679345	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	701784	13679345	184343085	647	78465											
XPC	7508	broad.mit.edu	37	chr3	14199968	14199968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctttgtcctctgaggaGcgggggctttcctctgcttt	3	14	12	12	1	2	1	0	1	2	0	4	2	4	2	3	3	3	2	3	3	0	3	rs55819243	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:14199968G>A	ENST00000285021.7	-	9	1629	c.1415C>T	c.(1414-1416)gCt>gTt	p.A472V	XPC_ENST00000449060.2_Missense_Mutation_p.A435V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	472	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCTGAGGAGCGGGGGCTTT	0.592			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				11	43					0	0	0	0	A	14199968	G	A	14199968	3	1	408	1	0	0	0	0	1	0	0	0	17537	971	34	4		4	XPC	3	14199968	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	520623	14199968	183822462	648	78466											
CAPN7	23473	broad.mit.edu	37	chr3	15274052	15274052	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatgaccagttacctgtTgatcacaagggagaattgct	12	12	10	7	0	1	4	1	3	0	1	1	5	1	4	2	1	2	3	2	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:15274052T>C	ENST00000253693.2	+	10	1312	c.1059T>C	c.(1057-1059)gtT>gtC	p.V353V		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	353	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGTTACCTGTTGATCACAAGG	0.343													16	54					0	0	0	0	C	15274052	T	C	15274052	2	2	408	1	0	0	0	0	0	0	0	1	2656	1799	63	5		5	CAPN7	3	15274052	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1074084	15274052	182748378	649	78467											
METTL6	131965	broad.mit.edu	37	chr3	15467981	15467981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcttcttcagaggtgagaAtccttgcctgcagccctttc	6	13	8	14	0	3	2	1	1	2	2	5	3	4	2	4	1	3	1	4	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:15467981A>G	ENST00000443029.1	-	2	278	c.38T>C	c.(37-39)aTt>aCt	p.I13T	METTL6_ENST00000383790.3_Missense_Mutation_p.I13T|METTL6_ENST00000383789.5_Missense_Mutation_p.I13T|METTL6_ENST00000450816.2_Missense_Mutation_p.I13T			Q8TCB7	METL6_HUMAN	methyltransferase like 6	13							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						AGAGGTGAGAATCCTTGCCTG	0.408													5	123					0	0	0	0	G	15467981	A	G	15467981	3	3	408	1	0	0	0	0	1	0	0	0	9573	101	4	5	836	5	METTL6	3	15467981	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	193929	15467981	182554449	650	78468											
PLCL2	23228	broad.mit.edu	37	chr3	17084409	17084409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattgaaaatgcagatgctgTatatgaaaagatcgtacatt	16	12	9	4	1	0	4	0	2	0	2	1	5	0	4	0	0	3	4	0	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:17084409T>C	ENST00000418129.2	+	4	3149	c.2684T>C	c.(2683-2685)gTa>gCa	p.V895A	PLCL2_ENST00000432376.1_Missense_Mutation_p.V895A|PLCL2_ENST00000396755.2_Missense_Mutation_p.V895A|PLCL2-AS1_ENST00000414844.2_RNA	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1021					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCAGATGCTGTATATGAAAAG	0.393													4	215					0	0	0	0	C	17084409	T	C	17084409	3	2	408	1	0	0	0	0	1	0	0	0	12112	1638	57	5	3070	5	PLCL2	3	17084409	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1616428	17084409	180938021	651	78469											
EFHB	151651	broad.mit.edu	37	chr3	19975431	19975431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgatccccaactccatgGgaaattttgttcccatgatg	9	13	7	12	0	1	2	0	2	1	0	4	3	4	3	4	1	1	1	4	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:19975431G>A	ENST00000295824.9	-	1	241	c.80C>T	c.(79-81)cCc>cTc	p.P27L	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	27					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CAACTCCATGGGAAATTTTGT	0.483													8	28					0	0	0	0	A	19975431	G	A	19975431	3	1	408	1	0	0	0	0	1	0	0	0	4981	1232	43	4	2473	4	EFHB	3	19975431	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2891022	19975431	178046999	652	78470											
KAT2B	8850	broad.mit.edu	37	chr3	20153137	20153137	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcgacagtctacctcggTacgaaaccacacaggtgttt	10	10	9	12	3	2	0	0	0	2	0	3	2	2	0	2	2	4	2	2	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:20153137T>C	ENST00000263754.4	+	6	1356	c.901T>C	c.(901-903)Tac>Cac	p.Y301H		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	301					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCTACCTCGGTACGAAACCAC	0.488													18	57					0	0	0	0	C	20153137	T	C	20153137	3	2	408	1	0	0	0	0	1	0	0	0	8035	1638	57	5	923	5	KAT2B	3	20153137	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	177706	20153137	177869293	653	78471											
ZNF385D	79750	broad.mit.edu	37	chr3	21478595	21478595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgccagtggctgtcgttggGcttttttccactttagaggt	4	17	12	8	1	0	1	0	0	0	1	2	1	1	1	2	3	1	3	2	3	1	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:21478595G>A	ENST00000281523.2	-	5	1058	c.540C>T	c.(538-540)agC>agT	p.S180S	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	180	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTGTCGTTGGGCTTTTTTCCA	0.473													26	121					0	0	0	0	A	21478595	G	A	21478595	2	1	408	1	0	0	0	0	0	0	0	1	17973	1194	42	4		4	ZNF385D	3	21478595	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1325458	21478595	176543835	654	78472											
NKIRAS1	28512	broad.mit.edu	37	chr3	23942526	23942526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatacatcttccattgtttCgcaatcttccattcctggga	8	16	6	11	1	2	0	0	0	2	0	6	1	5	1	3	1	1	3	3	1	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:23942526C>T	ENST00000443659.2	-	3	886	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	NKIRAS1_ENST00000388759.3_Missense_Mutation_p.E37K|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.E37K|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.E37K			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	37					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TCCATTGTTTCGCAATCTTCC	0.398													43	146					0	0	0	0	T	23942526	C	T	23942526	3	4	408	1	0	0	0	0	1	0	0	0	10514	893	31	1	477	1	NKIRAS1	3	23942526	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2463931	23942526	174079904	655	78473											
NEK10	152110	broad.mit.edu	37	chr3	27243970	27243970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaaggggggactcaaagtCgccatctgataaaggatgca	14	7	13	7	1	2	2	1	1	1	1	3	4	2	4	1	4	1	1	1	4	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:27243970C>T	ENST00000429845.2	-	25	2531	c.2169G>A	c.(2167-2169)gcG>gcA	p.A723A	NEK10_ENST00000383770.3_Silent_p.A35A|NEK10_ENST00000357467.2_Silent_p.A120A|NEK10_ENST00000295720.6_Silent_p.A35A|NEK10_ENST00000383771.4_Silent_p.A35A			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	723							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACTCAAAGTCGCCATCTGAT	0.488													13	43					0	0	0	0	T	27243970	C	T	27243970	2	4	408	1	0	0	0	0	0	0	0	1	10392	899	31	1		1	NEK10	3	27243970	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3301444	27243970	170778460	656	78474											
NEK10	152110	broad.mit.edu	37	chr3	27353644	27353644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttctccatagccgaggtActcattggctacaatctcca	9	12	6	14	1	4	0	1	0	3	0	6	1	4	0	3	2	3	2	3	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:27353644A>G	ENST00000429845.2	-	9	876	c.514T>C	c.(514-516)Tac>Cac	p.Y172H	NEK10_ENST00000341435.5_Missense_Mutation_p.Y172H			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	172							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGCCGAGGTACTCATTGGCT	0.478													9	22					0	0	0	0	G	27353644	A	G	27353644	3	3	408	1	0	0	0	0	1	0	0	0	10392	391	14	5	1692	5	NEK10	3	27353644	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	109674	27353644	170668786	657	78475											
TGFBR2	7048	broad.mit.edu	37	chr3	30713872	30713872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgcctgtgtgactttggGctttccctgcgtctggaccc	2	14	12	13	1	1	1	0	1	1	0	2	2	2	2	3	2	3	2	3	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:30713872G>A	ENST00000295754.5	+	4	1579	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G	TGFBR2_ENST00000359013.4_Silent_p.G424G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	399	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTGACTTTGGGCTTTCCCTGC	0.552													7	401					0	0	0	0	A	30713872	G	A	30713872	2	1	408	1	0	0	0	0	0	0	0	1	15916	1190	42	4		4	TGFBR2	3	30713872	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3360228	30713872	167308558	658	78476											
TMPPE	643853	broad.mit.edu	37	chr3	33135624	33135624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaggcgatcatggacaCgaagacagtgacagcagcca	13	3	15	10	3	1	2	1	1	0	1	1	6	1	4	1	3	2	1	1	3	1	0	rs149442180		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:33135624C>T	ENST00000342462.4	-	2	254	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	22						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						ATCATGGACACGAAGACAGTG	0.597													20	101					0	0	0	0	T	33135624	C	T	33135624	3	4	408	1	0	0	0	0	1	0	0	0	16332	536	19	1	1301	1	TMPPE	3	33135624	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2421752	33135624	164886806	659	78477											
SUSD5	26032	broad.mit.edu	37	chr3	33195265	33195265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcttctggagcagccGtgatcctggtgaatctgcgg	7	10	14	10	2	2	2	0	2	2	0	3	3	3	3	2	3	4	2	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:33195265G>A	ENST00000309558.3	-	5	1276	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	287					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGAGCAGCCGTGATCCTGGT	0.532													23	49					0	0	0	0	A	33195265	G	A	33195265	3	1	408	1	0	0	0	0	1	0	0	0	15501	1144	40	1	1034	1	SUSD5	3	33195265	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	59641	33195265	164827165	660	78478											
CLASP2	23122	broad.mit.edu	37	chr3	33644452	33644452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttctcttacctagtgacGcataggaacctgcattcagg	10	11	9	11	1	2	1	1	1	1	0	3	2	2	2	2	2	3	3	2	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:33644452G>A	ENST00000399362.4	-	18	2269	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V	CLASP2_ENST00000307312.7_Missense_Mutation_p.A128V|CLASP2_ENST00000468888.2_Missense_Mutation_p.A640V|CLASP2_ENST00000487200.1_Missense_Mutation_p.A412V|CLASP2_ENST00000461133.3_Missense_Mutation_p.A406V|CLASP2_ENST00000480013.1_Missense_Mutation_p.A406V|CLASP2_ENST00000539981.1_Missense_Mutation_p.A391V|CLASP2_ENST00000359576.5_Missense_Mutation_p.A639V|CLASP2_ENST00000333778.6_Missense_Mutation_p.A416V|CLASP2_ENST00000313350.6_Missense_Mutation_p.A412V	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	640										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						ACCTAGTGACGCATAGGAACC	0.468													8	13					0	0	0	0	A	33644452	G	A	33644452	3	1	408	1	0	0	0	0	1	0	0	0	3485	1087	38	1	2688	1	CLASP2	3	33644452	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	449187	33644452	164377978	661	78479											
ARPP21	10777	broad.mit.edu	37	chr3	35778820	35778820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagcaggtccagccacCgcagccacagatggcaggcc	11	2	11	17	1	0	1	0	0	0	1	1	1	1	1	6	3	4	3	6	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:35778820C>T	ENST00000187397.4	+	16	2066	c.1610C>T	c.(1609-1611)cCg>cTg	p.P537L	ARPP21_ENST00000337271.5_Missense_Mutation_p.P483L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P503L|ARPP21_ENST00000458225.1_Missense_Mutation_p.P503L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P483L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	537	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTCCAGCCACCGCAGCCACAG	0.642													13	51					0	0	0	0	T	35778820	C	T	35778820	3	4	408	1	0	0	0	0	1	0	0	0	982	652	23	1	1677	1	ARPP21	3	35778820	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2134368	35778820	162243610	662	78480											
MLH1	4292	broad.mit.edu	37	chr3	37042542	37042542	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctatggctttcgaggtGaggtaagctaaagattcaag	12	11	11	7	1	1	2	1	1	0	1	2	3	1	2	1	3	2	3	1	3	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:37042542G>T	ENST00000231790.2	+	3	520	c.304G>T	c.(304-306)Gag>Tag	p.E102*	MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000435176.1_Intron	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	102			E -> K (in HNPCC2; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTTTCGAGGTGAGGTAAGCTA	0.348		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				35	28					6.53348e-20	6.88128e-20	1	0	T	37042542	G	T	37042542	4	4	408	1	0	0	0	0	0	1	0	0	9686	1291	45	2	314	2	MLH1	3	37042542	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1263722	37042542	160979888	663	78481											
LRRFIP2	9209	broad.mit.edu	37	chr3	37107713	37107713	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaggctaatgctaacatAcctctcccgtcttcactgtc	8	13	5	15	1	3	0	1	0	2	0	6	0	4	0	3	1	3	2	3	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:37107713A>G	ENST00000421307.1	-	23	1989		c.e23+1		LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000336686.4_Splice_Site	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2						Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGCTAACATACCTCTCCCGT	0.458													39	109					0	0	0	0	G	37107713	A	G	37107713	5	3	408	1	0	0	0	0	0	0	1	0	9092	405	14	5	625	5	LRRFIP2	3	37107713	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	65171	37107713	160914717	664	78482											
ITGA9	3680	broad.mit.edu	37	chr3	37565066	37565066	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtttggtcagtccataTcgggaggcattgatatggat	9	13	14	5	1	1	1	1	1	0	0	3	4	2	4	1	5	0	2	1	5	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:37565066T>G	ENST00000264741.5	+	12	1547	c.1291T>G	c.(1291-1293)Tcg>Gcg	p.S431A	ITGA9_ENST00000422441.1_Missense_Mutation_p.S431A	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	431					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCAGTCCATATCGGGAGGCAT	0.398													20	68					0	0	0	0	G	37565066	T	G	37565066	3	3	408	1	0	0	0	0	1	0	0	0	7936	1435	50	5	1337	5	ITGA9	3	37565066	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	457353	37565066	160457364	665	78483											
ITGA9	3680	broad.mit.edu	37	chr3	37574875	37574875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatcacagcgcctcagTgtcacgacggacagcagcct	11	6	9	15	3	4	0	4	0	0	0	4	2	4	1	2	1	4	1	2	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:37574875T>C	ENST00000264741.5	+	14	1700	c.1444T>C	c.(1444-1446)Tgt>Cgt	p.C482R	ITGA9_ENST00000422441.1_Missense_Mutation_p.C482R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	482					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGCGCCTCAGTGTCACGACGG	0.552													20	61					0	0	0	0	C	37574875	T	C	37574875	3	2	408	1	0	0	0	0	1	0	0	0	7936	1696	59	5	1498	5	ITGA9	3	37574875	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9809	37574875	160447555	666	78484											
SCN10A	6336	broad.mit.edu	37	chr3	38739798	38739798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttgaacatgtcgtcgAtgccagcctcccacctcaca	10	8	9	14	2	1	1	1	1	0	0	4	3	2	2	4	1	3	1	4	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:38739798A>G	ENST00000449082.2	-	27	4912	c.4913T>C	c.(4912-4914)aTc>aCc	p.I1638T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1638					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATGTCGTCGATGCCAGCCTC	0.557													52	169					0	0	0	0	G	38739798	A	G	38739798	3	3	408	1	0	0	0	0	1	0	0	0	13999	333	12	5	961	5	SCN10A	3	38739798	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1164923	38739798	159282632	667	78485											
MOBP	4336	broad.mit.edu	37	chr3	39543701	39543701	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcggaaatacagcatctgTaagagcggctgcttctacca	12	9	10	10	2	2	1	0	0	2	1	3	3	2	2	1	2	5	4	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:39543701T>C	ENST00000311042.6	+	3	290	c.141T>C	c.(139-141)tgT>tgC	p.C47C	MOBP_ENST00000354668.4_Silent_p.C47C|MOBP_ENST00000415443.1_Silent_p.C47C|MOBP_ENST00000428261.1_Silent_p.C47C|MOBP_ENST00000441980.2_Silent_p.C47C|MOBP_ENST00000396228.1_Silent_p.C47C|MOBP_ENST00000420739.1_Silent_p.C47C|MOBP_ENST00000447324.1_Silent_p.C47C|MOBP_ENST00000383754.3_Silent_p.C47C	NM_001278322.1	NP_001265251.1	Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	47					nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction		p.C47W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		ACAGCATCTGTAAGAGCGGCT	0.557													19	71					0	0	0	0	C	39543701	T	C	39543701	2	2	408	1	0	0	0	0	0	0	0	1	9758	1644	57	5		5	MOBP	3	39543701	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	803903	39543701	158478729	668	78486											
ENTPD3	956	broad.mit.edu	37	chr3	40433581	40433581	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttgtgagtattgtggtActtgtgagtatcactgtcat	7	18	11	5	0	2	2	2	2	0	0	2	2	2	2	0	1	2	4	0	1	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:40433581A>T	ENST00000301825.3	+	3	226	c.108A>T	c.(106-108)gtA>gtT	p.V36V	ENTPD3_ENST00000445129.1_Silent_p.V36V|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.V36V	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	36						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTATTGTGGTACTTGTGAGTA	0.498													29	110					0	0	0	0	T	40433581	A	T	40433581	2	4	408	1	0	0	0	0	0	0	0	1	5178	378	14	5		5	ENTPD3	3	40433581	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	889880	40433581	157588849	669	78487											
CTNNB1	1499	broad.mit.edu	37	chr3	41266654	41266654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcagaacttgccacaCgtgcaatccctgaactgaca	13	8	8	12	1	0	4	0	3	0	1	1	4	1	4	2	0	5	2	2	0	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:41266654C>T	ENST00000349496.5	+	4	731	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R151C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R151C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R151C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R144C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	151					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.M1_V173del(1)|p.I35_K170del(1)|p.A13_R151del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACTTGCCACACGTGCAATCCC	0.428		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				18	68					0	0	0	0	T	41266654	C	T	41266654	3	4	408	1	0	0	0	0	1	0	0	0	4048	536	19	1	461	1	CTNNB1	3	41266654	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	833073	41266654	156755776	670	78488											
ULK4	54986	broad.mit.edu	37	chr3	41938363	41938363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggtgaccagccaccAcgcacaaatagcaaaggaga	14	4	9	14	1	0	2	0	1	0	1	1	3	1	2	5	2	2	2	5	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:41938363A>G	ENST00000301831.4	-	15	1943	c.1481T>C	c.(1480-1482)gTg>gCg	p.V494A	ULK4_ENST00000420927.1_Missense_Mutation_p.V494A	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	494							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACCAGCCACCACGCACAAATA	0.517													31	97					0	0	0	0	G	41938363	A	G	41938363	3	3	408	1	0	0	0	0	1	0	0	0	17074	159	6	5	2438	5	ULK4	3	41938363	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	671709	41938363	156084067	671	78489											
ULK4	54986	broad.mit.edu	37	chr3	41977350	41977350	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaagatgatgtaatccActaatcaggtcaattccaaa	16	12	6	7	0	2	3	2	2	0	1	4	3	4	3	2	1	0	1	2	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:41977350A>G	ENST00000301831.4	-	4	783	c.321T>C	c.(319-321)agT>agC	p.S107S	ULK4_ENST00000420927.1_Silent_p.S107S	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	107	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GATGTAATCCACTAATCAGGT	0.358													10	96					0	0	0	0	G	41977350	A	G	41977350	2	3	408	1	0	0	0	0	0	0	0	1	17074	156	6	5		5	ULK4	3	41977350	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	38987	41977350	156045080	672	78490											
ZBTB47	92999	broad.mit.edu	37	chr3	42703044	42703044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcataacaagattgtgcacgGctacgcagagaagaagttct	14	8	11	8	2	1	3	0	0	1	3	1	4	1	3	0	1	3	5	0	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:42703044G>A	ENST00000457842.3	+	3	1822	c.413G>A	c.(412-414)gGc>gAc	p.G138D	ZBTB47_ENST00000232974.6_Missense_Mutation_p.G514D|ZBTB47_ENST00000505904.1_Missense_Mutation_p.G60D	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ATTGTGCACGGCTACGCAGAG	0.517													17	58					0	0	0	0	A	42703044	G	A	42703044	3	1	408	1	0	0	0	0	1	0	0	0	17643	1203	42	4	1547	4	ZBTB47	3	42703044	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	725694	42703044	155319386	673	78491											
CCDC13	152206	broad.mit.edu	37	chr3	42793489	42793489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcgtcggtggcccccttgGctgacagcctggtcagggct	3	9	15	14	2	1	1	1	1	0	0	2	1	1	1	3	5	2	2	3	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:42793489G>A	ENST00000310232.6	-	5	625	c.542C>T	c.(541-543)gCc>gTc	p.A181V	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	181										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGCCCCCTTGGCTGACAGCCT	0.572													23	93					0	0	0	0	A	42793489	G	A	42793489	3	1	408	1	0	0	0	0	1	0	0	0	2790	1203	42	4	1653	4	CCDC13	3	42793489	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	90445	42793489	155228941	674	78492											
CYP8B1	1582	broad.mit.edu	37	chr3	42916116	42916116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgaagacggtgggctcaGggtggatgtcagggtccatg	8	9	17	7	1	2	2	2	1	0	1	3	3	3	3	1	5	0	1	1	5	1	1	rs141302264		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:42916116G>A	ENST00000316161.4	-	1	1517	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.P398L	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	398					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.P398H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGTGGGCTCAGGGTGGATGTC	0.547													15	232					0	0	0	0	A	42916116	G	A	42916116	3	1	408	1	0	0	0	0	1	0	0	0	4230	1000	35	4	316	4	CYP8B1	3	42916116	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	122627	42916116	155106314	675	78493											
ZNF662	389114	broad.mit.edu	37	chr3	42950329	42950329	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatttcccagctggagCgaggggaaacaccctggtgc	8	8	13	12	1	1	1	0	1	1	0	2	4	2	3	2	4	4	1	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:42950329C>T	ENST00000541208.1	+	3	448	c.79C>T	c.(79-81)Cga>Tga	p.R27*	KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000440367.2_Nonsense_Mutation_p.R27*|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000422021.1_Nonsense_Mutation_p.R27*|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.R87*			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCAGCTGGAGCGAGGGGAAAC	0.577													57	146					0	0	0	0	T	42950329	C	T	42950329	4	4	408	1	0	0	0	0	0	1	0	0	18166	760	27	1	272	1	ZNF662	3	42950329	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	34213	42950329	155072101	676	78494											
ZNF445	353274	broad.mit.edu	37	chr3	44488161	44488161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgaagggcctctctcgaGtatgaaatctcttgtggcta	9	14	10	8	1	2	2	0	2	2	0	5	3	2	2	1	2	0	2	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:44488161G>A	ENST00000425708.2	-	7	3343	c.3002C>T	c.(3001-3003)aCt>aTt	p.T1001I	ZNF445_ENST00000396077.2_Missense_Mutation_p.T1001I			P59923	ZN445_HUMAN	zinc finger protein 445	1001					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCTCTCTCGAGTATGAAATCT	0.443													5	182					0	0	0	0	A	44488161	G	A	44488161	3	1	408	1	0	0	0	0	1	0	0	0	18013	1029	36	4	97	4	ZNF445	3	44488161	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1537832	44488161	153534269	677	78495											
TMEM42	131616	broad.mit.edu	37	chr3	44903590	44903590	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgccgcctccgccaaGctggccttcggcagcgaggt	4	6	14	17	5	0	0	0	0	0	0	2	1	1	0	6	4	2	2	6	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:44903590G>A	ENST00000302392.4	+	1	230	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	58						integral to membrane		p.K58K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		CCTCCGCCAAGCTGGCCTTCG	0.776													3	8					0	0	0	0	A	44903590	G	A	44903590	2	1	408	1	0	0	0	0	0	0	0	1	16260	962	34	4		4	TMEM42	3	44903590	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	415429	44903590	153118840	678	78496											
SLC6A20	54716	broad.mit.edu	37	chr3	45814020	45814020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgaacatgtacatgaGgccattggtggctccgtgga	9	9	16	7	1	0	2	0	2	0	0	1	4	1	4	2	5	2	2	2	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:45814020G>T	ENST00000358525.4	-	5	785	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	SLC6A20_ENST00000353278.4_Intron|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L224I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	224					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ATGTACATGAGGCCATTGGTG	0.597													12	28					2.80697e-09	2.90086e-09	1	0	T	45814020	G	T	45814020	3	4	408	1	0	0	0	0	1	0	0	0	14772	1000	35	4	1136	4	SLC6A20	3	45814020	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	910430	45814020	152208410	679	78497											
CCR2	729230	broad.mit.edu	37	chr3	46399634	46399634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatttccacacaataatgAggaacattttggggctggtc	13	12	9	7	0	0	1	0	1	0	0	2	2	1	2	1	4	1	1	1	4	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46399634A>G	ENST00000292301.4	+	2	1101	c.616A>G	c.(616-618)Agg>Ggg	p.R206G	CCR2_ENST00000445132.2_Missense_Mutation_p.R206G|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.R206G	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	206					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACAATAATGAGGAACATTTT	0.458													88	264					0	0	0	0	G	46399634	A	G	46399634	3	3	408	1	0	0	0	0	1	0	0	0	2970	295	11	5	618	5	CCR2	3	46399634	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	585614	46399634	151622796	680	78498											
CCRL2	9034	broad.mit.edu	37	chr3	46449604	46449604	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctggcaccagaggatgaaTatgatgtcctcatagaaggt	12	9	12	8	1	1	4	1	2	0	2	2	5	2	5	2	3	0	2	2	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46449604T>A	ENST00000399036.3	+	2	386	c.34T>A	c.(34-36)Tat>Aat	p.Y12N	ACKR5_ENST00000357392.4_Missense_Mutation_p.Y24N|ACKR5_ENST00000400882.2_Missense_Mutation_p.Y12N|ACKR5_ENST00000400880.3_Missense_Mutation_p.Y12N	NM_003965.4	NP_003956.2																					AGAGGATGAATATGATGTCCT	0.532													4	11					0	0	0	0	A	46449604	T	A	46449604	3	1	408	1	0	0	0	0	1	0	0	0	2979	1406	49	5	76	5	CCRL2	3	46449604	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	49970	46449604	151572826	681	78499											
LRRC2	79442	broad.mit.edu	37	chr3	46574323	46574323	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtctctctagattttcAcaatctcccaattctggagg	9	14	6	12	0	5	1	1	0	4	1	8	2	6	2	2	2	0	0	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46574323A>G	ENST00000395905.3	-	5	959	c.567T>C	c.(565-567)tgT>tgC	p.C189C	LRRC2_ENST00000296144.3_Silent_p.C189C	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	189										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTAGATTTTCACAATCTCCCA	0.368													19	79					0	0	0	0	G	46574323	A	G	46574323	2	3	408	1	0	0	0	0	0	0	0	1	9040	157	6	5		5	LRRC2	3	46574323	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	124719	46574323	151448107	682	78500											
LRRC2	79442	broad.mit.edu	37	chr3	46580564	46580564	+	Frame_Shift_Del	DEL	T	T	-																															ctggaagatgtgagatttggTtttttggcagatccagaatt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46580564delT	ENST00000395905.3	-	4	853	c.461delA	c.(460-462)acfs	p.N154fs	LRRC2_ENST00000296144.3_Frame_Shift_Del_p.N154fs	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	154										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TGAGATTTGGTTTTTTGGCAG	0.438													19	72	---	---	---	---					-	46580564	T	-	46580564	7	5	408	1	0	1	0	1	0	0	0	0	9040	1725	60	0	678	0	LRRC2	3	46580564	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	6241	46580564	151441866	683	78501											
ALS2CL	259173	broad.mit.edu	37	chr3	46719881	46719881	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaggtgaccttgcccTgggagccaggagaaggagca	10	5	18	8	0	0	2	0	1	0	1	0	6	0	5	3	6	3	1	3	6	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46719881T>C	ENST00000318962.4	-	16	1710		c.e16-2		ALS2CL_ENST00000415953.1_Splice_Site	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like						endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GACCTTGCCCTGGGAGCCAGG	0.612													23	50					0	0	0	0	C	46719881	T	C	46719881	5	2	408	1	0	0	0	0	0	0	1	0	551	1594	55	5	1280	5	ALS2CL	3	46719881	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	139317	46719881	151302549	684	78502											
NBEAL2	23218	broad.mit.edu	37	chr3	47043455	47043455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatgctgctacagactGcagtgccagcccgccgcgag	8	6	12	15	3	0	1	0	0	0	1	0	2	0	1	3	0	7	4	3	0	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:47043455G>A	ENST00000450053.3	+	31	5007	c.4828G>A	c.(4828-4830)Gca>Aca	p.A1610T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1426T|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1610							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTACAGACTGCAGTGCCAGC	0.622													13	35					0	0	0	0	A	47043455	G	A	47043455	3	1	408	1	0	0	0	0	1	0	0	0	10259	1319	46	4	4950	4	NBEAL2	3	47043455	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	323574	47043455	150978975	685	78503											
SCAP	22937	broad.mit.edu	37	chr3	47456400	47456400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtttttggtgtgcacaggGcactgtgtgggtcaggtgac	5	12	18	6	0	1	1	1	1	0	0	1	1	1	1	0	5	1	3	0	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:47456400G>A	ENST00000265565.5	-	20	3635	c.3223C>T	c.(3223-3225)Ccc>Tcc	p.P1075S	SCAP_ENST00000545718.1_Missense_Mutation_p.P682S|SCAP_ENST00000441517.2_Missense_Mutation_p.P819S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1075	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGTGCACAGGGCACTGTGTGG	0.602													28	84					0	0	0	0	A	47456400	G	A	47456400	3	1	408	1	0	0	0	0	1	0	0	0	13963	1203	42	4	632	4	SCAP	3	47456400	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	412945	47456400	150566030	686	78504											
SMARCC1	6599	broad.mit.edu	37	chr3	47704027	47704027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcattcatcctgagtaCgacttccaacatgttccgac	10	11	8	12	2	1	1	1	1	0	0	4	4	4	2	3	1	3	3	3	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:47704027C>T	ENST00000254480.5	-	20	2074	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	652	SANT.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCCTGAGTACGACTTCCAAC	0.458													21	49					0	0	0	0	T	47704027	C	T	47704027	3	4	408	1	0	0	0	0	1	0	0	0	14863	536	19	1	1398	1	SMARCC1	3	47704027	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	247627	47704027	150318403	687	78505											
DHX30	22907	broad.mit.edu	37	chr3	47859533	47859533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcccagcacaggcagcGtcagtgcaaacttcccccac	9	5	10	17	2	1	0	1	0	0	0	3	0	2	0	3	2	4	3	3	2	1	1	rs138729543		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:47859533G>A	ENST00000445061.1	+	4	457	c.50G>A	c.(49-51)cGt>cAt	p.R17H	DHX30_ENST00000348968.4_5'UTR|DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000446256.2_5'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	17						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.R17H(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		cacaggcagcgtcagtgcaaa	0.607													78	204					0	0	0	0	A	47859533	G	A	47859533	3	1	408	1	0	0	0	0	1	0	0	0	4541	1145	40	1	56	1	DHX30	3	47859533	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	155506	47859533	150162897	688	78506											
PLXNB1	5364	broad.mit.edu	37	chr3	48456740	48456740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattctggccacggacgcAtatctcacgtcctccactga	9	9	8	15	3	2	2	1	1	2	1	5	3	4	3	3	2	0	1	3	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48456740A>G	ENST00000358536.4	-	20	4080	c.3811T>C	c.(3811-3813)Tgc>Cgc	p.C1271R	PLXNB1_ENST00000456774.1_Missense_Mutation_p.C1088R|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.C1271R|PLXNB1_ENST00000358459.4_Missense_Mutation_p.C1088R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1271	IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACGGACGCATATCTCACGT	0.582													9	37					0	0	0	0	G	48456740	A	G	48456740	3	3	408	1	0	0	0	0	1	0	0	0	12195	217	8	5	2672	5	PLXNB1	3	48456740	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	597207	48456740	149565690	689	78507											
TREX1	11277	broad.mit.edu	37	chr3	48508760	48508760	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcccatgtatggggtcAcagcctctgctaggaccaag	9	8	12	12	0	3	0	2	0	1	0	3	1	3	1	3	4	2	2	3	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48508760A>G	ENST00000296443.9	+	3	1593	c.706A>G	c.(706-708)Aca>Gca	p.T236A	TREX1_ENST00000433541.1_Missense_Mutation_p.T97A|TREX1_ENST00000422277.2_Missense_Mutation_p.T291A|TREX1_ENST00000456089.1_Missense_Mutation_p.T97A|TREX1_ENST00000444177.1_Missense_Mutation_p.T226A|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Missense_Mutation_p.T236A			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	291					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTATGGGGTCACAGCCTCTGC	0.617													29	95					0	0	0	0	G	48508760	A	G	48508760	3	3	408	1	0	0	0	0	1	0	0	0	16571	159	6	5	873	5	TREX1	3	48508760	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	52020	48508760	149513670	690	78508											
CELSR3	1951	broad.mit.edu	37	chr3	48698495	48698495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgcgcacagtggccgagcGcggcccgggttcctggccct	4	6	15	16	6	0	0	0	0	0	0	1	1	1	0	4	4	2	2	4	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48698495G>A	ENST00000544264.1	-	1	1853	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C	CELSR3_ENST00000164024.4_Missense_Mutation_p.R525C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	525	Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGCCGAGCGCGGCCCGGGT	0.637													16	45					0	0	0	0	A	48698495	G	A	48698495	3	1	408	1	0	0	0	0	1	0	0	0	3252	1087	38	1	8505	1	CELSR3	3	48698495	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	189735	48698495	149323935	691	78509											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717525	48717525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctcctctaggtagcagcgGatgacaccctcatcctcata	10	9	8	14	1	3	1	2	1	1	0	5	2	5	2	3	2	3	3	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48717525G>A	ENST00000294129.2	-	6	1349	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	NCKIPSD_ENST00000341520.4_Silent_p.I410I|NCKIPSD_ENST00000416649.2_Silent_p.I403I	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	410					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTAGCAGCGGATGACACCCT	0.602													37	65					0	0	0	0	A	48717525	G	A	48717525	2	1	408	1	0	0	0	0	0	0	0	1	10295	1164	41	2		2	NCKIPSD	3	48717525	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	19030	48717525	149304905	692	78510											
SLC25A20	788	broad.mit.edu	37	chr3	48921521	48921521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgggagtgaccccgatgaTaggggcagccattccccgat	9	7	13	12	2	0	2	0	2	0	0	1	5	1	3	5	3	1	1	5	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48921521T>C	ENST00000319017.4	-	3	433	c.235A>G	c.(235-237)Atc>Gtc	p.I79V	SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Missense_Mutation_p.I29V	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	79					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	ACCCCGATGATAGGGGCAGCC	0.493													15	60					0	0	0	0	C	48921521	T	C	48921521	3	2	408	1	0	0	0	0	1	0	0	0	14571	1406	49	5	698	5	SLC25A20	3	48921521	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	203996	48921521	149100909	693	78511											
QARS	5859	broad.mit.edu	37	chr3	49139697	49139697	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagccgagcttttgccAcctgaaagaagccccaggtg	9	9	10	13	1	1	2	0	1	1	1	1	3	1	2	5	1	4	1	5	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49139697A>G	ENST00000306125.6	-	7	909	c.570_splice	c.e7-1	p.V191_splice	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_Splice_Site_p.V209_splice|QARS_ENST00000414533.1_Splice_Site_p.V180_splice			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	191					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCTTTTGCCACCTGAAAGAA	0.517													103	330					0	0	0	0	G	49139697	A	G	49139697	5	3	408	1	0	0	0	0	0	0	1	0	12953	173	6	5	1827	5	QARS	3	49139697	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	218176	49139697	148882733	694	78512											
C3orf62	375341	broad.mit.edu	37	chr3	49311557	49311557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgagtcagccttcaaatCtctctccatatctttcctgc	7	16	5	13	0	5	1	2	1	3	0	8	1	6	1	3	0	2	1	3	0	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49311557C>G	ENST00000343010.3	-	2	1499	c.463G>C	c.(463-465)Gat>Cat	p.D155H	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	155										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTTCAAATCTCTCTCCATA	0.448													25	58					0	0	0	0	G	49311557	C	G	49311557	3	3	408	1	0	0	0	0	1	0	0	0	2258	913	32	2	348	2	C3orf62	3	49311557	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	171860	49311557	148710873	695	78513											
C3orf62	375341	broad.mit.edu	37	chr3	49314249	49314251	+	In_Frame_Del	DEL	TCT	TCT	-																															gcagtcagttcctttctgcaTcttcttagtttttcagacat																								rs145714914	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49314249_49314251delTCT	ENST00000343010.3	-	1	1091_1093	c.55_57delAGA	c.(55-57)del	p.R19del		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	19										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTTTCTGCATCTTCTTAGTTTT	0.468													18	51	---	---	---	---					-	49314251	TCT	-	49314249	7	5	408	1	0	1	0	1	0	0	0	0	2258	1432	50	0	758	0	C3orf62	3	49314249	In_Frame_Del	DEL	TCT	TCGA-F7-A624-01A-22D-A30E-08	2692	49314249	148708181	696	78514											
RHOA	387	broad.mit.edu	37	chr3	49400019	49400019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgggcacgttgggacaGaaatgcttgacttctggggt	9	11	15	6	1	1	3	0	2	1	1	1	4	1	4	0	4	1	3	0	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49400019G>C	ENST00000418115.1	-	4	702	c.318C>G	c.(316-318)ttC>ttG	p.F106L	RHOA_ENST00000422781.1_Missense_Mutation_p.F106L|RHOA_ENST00000454011.2_Missense_Mutation_p.S66C	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	106					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.F106L(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CGTTGGGACAGAAATGCTTGA	0.443													22	115					0	0	0	0	C	49400019	G	C	49400019	3	2	408	1	0	0	0	0	1	0	0	0	13414	933	33	2	271	2	RHOA	3	49400019	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	85770	49400019	148622411	697	78515											
AMT	275	broad.mit.edu	37	chr3	49455120	49455120	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccacattcttcttcagAgagggggaggggcagccact	9	8	13	11	1	3	1	1	0	2	1	4	3	3	2	2	4	1	1	2	4	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49455120A>G	ENST00000273588.3	-	9	1367	c.1065T>C	c.(1063-1065)tcT>tcC	p.S355S	AMT_ENST00000395338.2_Silent_p.S355S|AMT_ENST00000538581.1_Silent_p.S299S|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000458307.2_Silent_p.S311S|AMT_ENST00000546031.1_Silent_p.S258S	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	355					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCTTCTTCAGAGAGGGGGAGG	0.592													42	143					0	0	0	0	G	49455120	A	G	49455120	2	3	408	1	0	0	0	0	0	0	0	1	589	291	11	5		5	AMT	3	49455120	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	55101	49455120	148567310	698	78516											
DAG1	1605	broad.mit.edu	37	chr3	49569252	49569252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaccaaaaccagcaacGccttcaactgactccaccac	14	5	3	19	1	1	1	1	1	0	0	3	1	3	1	6	0	4	1	6	0	4	1	rs143763229	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49569252G>A	ENST00000545947.1	+	6	2030	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	DAG1_ENST00000308775.2_Silent_p.T436T|DAG1_ENST00000541308.1_Silent_p.T436T|DAG1_ENST00000539901.1_Silent_p.T436T|DAG1_ENST00000538711.1_Silent_p.T436T|DAG1_ENST00000515359.2_Silent_p.T436T	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	436	Mucin-like domain.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACCAGCAACGCCTTCAACTG	0.577													27	121					0	0	0	0	A	49569252	G	A	49569252	2	1	408	1	0	0	0	0	0	0	0	1	4258	1074	38	1		1	DAG1	3	49569252	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	114132	49569252	148453178	699	78517											
BSN	8927	broad.mit.edu	37	chr3	49694495	49694495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccagaatggccagtattgGcccccccttacacatgcagc	9	7	9	16	0	0	1	0	0	0	1	0	1	0	1	5	2	3	2	5	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49694495G>C	ENST00000296452.4	+	5	7620	c.7506G>C	c.(7504-7506)tgG>tgC	p.W2502C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2502					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCAGTATTGGCCCCCCCTTA	0.647													27	68					0	0	0	0	C	49694495	G	C	49694495	3	2	408	1	0	0	0	0	1	0	0	0	1538	1212	42	4	7524	4	BSN	3	49694495	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	125243	49694495	148327935	700	78518											
APEH	327	broad.mit.edu	37	chr3	49719325	49719325	+	Frame_Shift_Del	DEL	C	C	-																															gctccctgtctgcaggggggCcccattcatcctttgtcact																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49719325delC	ENST00000296456.5	+	17	1928	c.1528delC	c.(1528-1530)ccfs	p.P510fs	APEH_ENST00000438011.1_Frame_Shift_Del_p.P510fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	510					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCAGGGGGGCCCCATTCATC	0.602													43	170	---	---	---	---					-	49719325	C	-	49719325	7	5	408	1	0	1	0	1	0	0	0	0	769	739	26	0	1594	0	APEH	3	49719325	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	24830	49719325	148303105	701	78519											
RNF123	63891	broad.mit.edu	37	chr3	49753038	49753038	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccctgctgcagcagcAcatggcggacctcctacagc	8	7	9	17	1	0	0	0	0	0	0	2	1	2	1	4	2	6	4	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49753038A>G	ENST00000327697.6	+	32	3185	c.3041A>G	c.(3040-3042)cAc>cGc	p.H1014R	RNF123_ENST00000433785.1_Missense_Mutation_p.H126R	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1014						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTGCAGCAGCACATGGCGGAC	0.607													16	37					0	0	0	0	G	49753038	A	G	49753038	3	3	408	1	0	0	0	0	1	0	0	0	13518	159	6	5	3163	5	RNF123	3	49753038	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	33713	49753038	148269392	702	78520											
RBM6	10180	broad.mit.edu	37	chr3	50005145	50005145	+	Frame_Shift_Del	DEL	G	G	-																															gggacctggacatgatttcaGggggggagatttttcgtctt																								rs141234052		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50005145delG	ENST00000266022.4	+	3	546	c.287delG	c.(286-288)agfs	p.R96fs	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CATGATTTCAGGGGGGGAGAT	0.493													52	151	---	---	---	---					-	50005145	G	-	50005145	7	5	408	1	0	1	0	1	0	0	0	0	13226	1000	35	0	293	0	RBM6	3	50005145	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	252107	50005145	148017285	703	78521											
RBM6	10180	broad.mit.edu	37	chr3	50095330	50095330	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaggacatcaaaagagagaAgcagaaaggtatctgcctcc	16	7	10	8	0	2	3	1	0	1	3	3	5	3	4	2	2	2	2	2	2	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50095330A>G	ENST00000443081.1	+	9	2386	c.1467A>G	c.(1465-1467)gaA>gaG	p.E489E	RBM6_ENST00000422955.1_Silent_p.E99E|RBM6_ENST00000442092.1_Silent_p.E99E|RBM6_ENST00000266022.4_Silent_p.E621E|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR			P78332	RBM6_HUMAN	RNA binding motif protein 6	621	RRM.				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAAAGAGAGAAGCAGAAAGGT	0.527													6	67					0	0	0	0	G	50095330	A	G	50095330	2	3	408	1	0	0	0	0	0	0	0	1	13226	69	3	5		5	RBM6	3	50095330	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	90185	50095330	147927100	704	78522											
IFRD2	7866	broad.mit.edu	37	chr3	50330103	50330103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggaacaagtgcacggtggTtaactccgaagcgtccctca	10	7	12	12	4	1	0	1	0	0	0	3	2	3	1	2	3	4	2	2	3	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50330103T>C	ENST00000336089.4	-	2	201	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCACGGTGGTTAACTCCGAA	0.672													5	101					0	0	0	0	C	50330103	T	C	50330103	3	2	408	1	0	0	0	0	1	0	0	0	7607	1740	60	5		5	IFRD2	3	50330103	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	234773	50330103	147692327	705	78523											
HYAL2	8692	broad.mit.edu	37	chr3	50355698	50355698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccagcccaagtagcaCtggcagcggaagtgtgtctg	9	7	12	13	1	1	0	0	0	1	0	2	1	2	1	3	2	3	3	3	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50355698C>T	ENST00000447092.1	-	3	3576	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	HYAL2_ENST00000442581.1_Silent_p.Q428Q|HYAL2_ENST00000395139.3_Silent_p.Q428Q|HYAL2_ENST00000357750.4_Silent_p.Q428Q			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	428	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	CCAAGTAGCACTGGCAGCGGA	0.647													18	63					0	0	0	0	T	50355698	C	T	50355698	2	4	408	1	0	0	0	0	0	0	0	1	7517	564	20	4		4	HYAL2	3	50355698	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	25595	50355698	147666732	706	78524											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50677902	50677902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtatgagaacatgcacCatggcaagcgctgtctcctc	10	10	10	11	1	1	1	0	1	1	1	3	2	1	1	2	1	3	4	2	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50677902C>T	ENST00000446044.1	+	5	921	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.H109Y	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	109	Protein kinase.				activation 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|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAACATGCACCATGGCAAGCG	0.607													5	295					0	0	0	0	T	50677902	C	T	50677902	3	4	408	1	0	0	0	0	1	0	0	0	9359	594	21	4	331	4	MAPKAPK3	3	50677902	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	322204	50677902	147344528	707	78525											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50681875	50681875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacatctaaggagaaagaCgcagtgcttaagctcaccga	15	7	9	10	2	2	2	1	0	1	2	2	4	2	2	1	1	3	3	1	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50681875C>T	ENST00000446044.1	+	8	1136	c.540C>T	c.(538-540)gaC>gaT	p.D180D	MAPKAPK3_ENST00000357955.2_Silent_p.D180D	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	180	Protein kinase.				activation 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|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGGAGAAAGACGCAGTGCTTA	0.502													29	95					0	0	0	0	T	50681875	C	T	50681875	2	4	408	1	0	0	0	0	0	0	0	1	9359	535	19	1		1	MAPKAPK3	3	50681875	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3973	50681875	147340555	708	78526											
DOCK3	1795	broad.mit.edu	37	chr3	51394560	51394560	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcaatggaggcattgcAcgctatcaggaggtaagctg	10	9	14	8	1	2	0	2	0	0	0	2	2	2	2	0	4	2	6	0	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51394560A>G	ENST00000266037.9	+	44	4694	c.4671A>G	c.(4669-4671)gcA>gcG	p.A1557A		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1557	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGGCATTGCACGCTATCAGG	0.517													30	133					0	0	0	0	G	51394560	A	G	51394560	2	3	408	1	0	0	0	0	0	0	0	1	4724	146	6	5		5	DOCK3	3	51394560	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	712685	51394560	146627870	709	78527											
RBM15B	29890	broad.mit.edu	37	chr3	51430952	51430952	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaacacgagaccaaaaagCtgaagaatctttcagagtac	19	6	7	9	1	2	4	1	1	1	3	2	5	2	4	1	0	3	2	1	0	7	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51430952C>T	ENST00000323686.4	+	1	2222	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	708					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACCAAAAAGCTGAAGAATCT	0.527													44	139					0	0	0	0	T	51430952	C	T	51430952	2	4	408	1	0	0	0	0	0	0	0	1	13199	796	28	4		4	RBM15B	3	51430952	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	36392	51430952	146591478	710	78528											
VPRBP	9730	broad.mit.edu	37	chr3	51457835	51457835	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacggttgctgtttctccAagccctttagaaataagatg	11	12	9	9	1	1	2	0	0	1	2	2	2	1	2	2	1	3	4	2	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51457835A>G	ENST00000335891.5	-	7	1251	c.1242T>C	c.(1240-1242)ctT>ctC	p.L414L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	863					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGTTTCTCCAAGCCCTTTAG	0.502													30	71					0	0	0	0	G	51457835	A	G	51457835	2	3	408	1	0	0	0	0	0	0	0	1	17281	117	5	5		5	VPRBP	3	51457835	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	26883	51457835	146564595	711	78529											
TEX264	51368	broad.mit.edu	37	chr3	51708450	51708450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgggtcaccccccatcCgcaacgtcactgtggcctac	6	8	10	17	2	2	0	2	0	0	0	3	0	3	0	5	2	3	2	5	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51708450C>T	ENST00000415259.1	+	2	1211	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	TEX264_ENST00000395057.1_Missense_Mutation_p.R44C|TEX264_ENST00000416589.1_Missense_Mutation_p.R44C|TEX264_ENST00000341333.5_Missense_Mutation_p.R44C|TEX264_ENST00000457573.1_Missense_Mutation_p.R44C			Q9Y6I9	TX264_HUMAN	testis expressed 264	44						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		ACCCCCCATCCGCAACGTCAC	0.607													26	102					0	0	0	0	T	51708450	C	T	51708450	3	4	408	1	0	0	0	0	1	0	0	0	15877	652	23	1	132	1	TEX264	3	51708450	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	250615	51708450	146313980	712	78530											
GRM2	2912	broad.mit.edu	37	chr3	51743196	51743196	+	Frame_Shift_Del	DEL	T	T	-																															ccagcgcctggaggccatgcTttttgcactggaccgcatca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51743196delT	ENST00000395052.3	+	2	431	c.197delT	c.(196-198)ctfs	p.L66fs	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Frame_Shift_Del_p.L66fs	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	66					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GAGGCCATGCTTTTTGCACTG	0.637													49	145	---	---	---	---					-	51743196	T	-	51743196	7	5	408	1	0	1	0	1	0	0	0	0	6847	1609	56	0	199	0	GRM2	3	51743196	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	34746	51743196	146279234	713	78531											
ACY1	95	broad.mit.edu	37	chr3	52022837	52022837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgacaaccgctatatcCgcgcggtgagccacttgcat	9	8	9	15	4	0	2	0	2	0	0	1	2	1	2	4	1	3	2	4	1	3	3	rs121912698	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52022837C>T	ENST00000458031.2	+	16	1558	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	ACY1_ENST00000494103.1_Missense_Mutation_p.R281C|ACY1_ENST00000476351.1_Missense_Mutation_p.R318C|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R454C|ACY1_ENST00000404366.2_Missense_Mutation_p.R353C|ACY1_ENST00000476854.1_Missense_Mutation_p.R288C			Q03154	ACY1_HUMAN	aminoacylase 1	353					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CCGCTATATCCGCGCGGTGAG	0.587													91	254					0	0	0	0	T	52022837	C	T	52022837	3	4	408	1	0	0	0	0	1	0	0	0	226	652	23	1	1107	1	ACY1	3	52022837	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	279641	52022837	145999593	714	78532											
POC1A	25886	broad.mit.edu	37	chr3	52109924	52109924	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgttgctctctgcatGattagctgctggttctccag	5	15	11	10	0	2	1	0	1	2	0	4	1	2	1	1	2	4	6	1	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52109924G>T	ENST00000394970.2	-	10	1376	c.1059C>A	c.(1057-1059)atC>atA	p.I353I	POC1A_ENST00000296484.2_Silent_p.I401I|POC1A_ENST00000474012.1_Silent_p.I363I	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	401						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CTCTCTGCATGATTAGCTGCT	0.512													46	171					9.22156e-22	9.73746e-22	1	0	T	52109924	G	T	52109924	2	4	408	1	0	0	0	0	0	0	0	1	12247	1280	45	2		2	POC1A	3	52109924	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	87087	52109924	145912506	715	78533											
POC1A	25886	broad.mit.edu	37	chr3	52185030	52185030	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagacagggtgcctcttcttAcccagctgctttgtgttgat	6	15	10	10	0	2	2	0	1	2	1	2	2	2	2	2	1	4	3	2	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52185030A>G	ENST00000394970.2	-	2	421		c.e2+1		POC1A_ENST00000474012.1_Splice_Site|POC1A_ENST00000296484.2_Splice_Site	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A							centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GCCTCTTCTTACCCAGCTGCT	0.542													49	145					0	0	0	0	G	52185030	A	G	52185030	5	3	408	1	0	0	0	0	0	0	1	0	12247	405	14	5	1158	5	POC1A	3	52185030	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	75106	52185030	145837400	716	78534											
DNAH1	25981	broad.mit.edu	37	chr3	52400777	52400777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctggcagctgccatgaCgtcactgaaagggcagccat	10	7	12	12	1	1	2	1	2	0	0	2	2	2	2	3	2	3	3	3	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52400777C>T	ENST00000420323.2	+	36	5900	c.5639C>T	c.(5638-5640)aCg>aTg	p.T1880M		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1880	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGCCATGACGTCACTGAAA	0.612													29	87					0	0	0	0	T	52400777	C	T	52400777	3	4	408	1	0	0	0	0	1	0	0	0	4634	536	19	1	5777	1	DNAH1	3	52400777	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	215747	52400777	145621653	717	78535											
DNAH1	25981	broad.mit.edu	37	chr3	52416439	52416439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcgggcctacagaacCtacccatcaccttcctcttc	9	9	6	17	1	3	1	2	0	1	1	5	1	4	1	5	2	3	0	5	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52416439C>A	ENST00000420323.2	+	50	8170	c.7909C>A	c.(7909-7911)Cta>Ata	p.L2637I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2637	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTACAGAACCTACCCATCAC	0.577													8	274					3.09899e-07	3.1815e-07	1	0	A	52416439	C	A	52416439	3	1	408	1	0	0	0	0	1	0	0	0	4634	680	24	4	8103	4	DNAH1	3	52416439	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	15662	52416439	145605991	718	78536											
DNAH1	25981	broad.mit.edu	37	chr3	52417474	52417474	+	Missense_Mutation	SNP	G	G	A																															acattcccaatctgtatactGcggacgagcaggaccagatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52417474G>A	ENST00000420323.2	+	51	8275	c.8014G>A	c.(8014-8016)Gcg>Acg	p.A2672T		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGTATACTGCGGACGAGCA	0.557													14	41					0	0	0	0	A	52417474	G	A	52417474	3	1	408	1	0	0	0	0	1	0	0	0	4634	1319	46	4	8212	4	DNAH1	3	52417474	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1035	52417474	145604956	719	78537	1037	2									
DNAH1	25981	broad.mit.edu	37	chr3	52417479	52417479	+	Silent	SNP	C	C	T																															cccaatctgtatactgcggaCgagcaggaccagatcgtcag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52417479C>T	ENST00000420323.2	+	51	8280	c.8019C>T	c.(8017-8019)gaC>gaT	p.D2673D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2673	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATACTGCGGACGAGCAGGACC	0.557													16	38					0	0	0	0	T	52417479	C	T	52417479	2	4	408	1	0	0	0	0	0	0	0	1	4634	535	19	1		1	DNAH1	3	52417479	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5	52417479	145604951	720	78538	1037	2									
DNAH1	25981	broad.mit.edu	37	chr3	52422520	52422520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttcgtgaggtggaggaCggcatcgccacaatgcaggc	8	6	15	12	4	0	1	0	1	0	0	2	3	0	3	2	5	1	2	2	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52422520C>T	ENST00000420323.2	+	58	9519	c.9258C>T	c.(9256-9258)gaC>gaT	p.D3086D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3086	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGTGGAGGACGGCATCGCCA	0.617													6	26					0	0	0	0	T	52422520	C	T	52422520	2	4	408	1	0	0	0	0	0	0	0	1	4634	535	19	1		1	DNAH1	3	52422520	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5041	52422520	145599910	721	78539											
DNAH1	25981	broad.mit.edu	37	chr3	52425582	52425582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacacgcccgagatctccAccaaactcaccctcatcaac	13	6	3	19	2	4	1	3	0	1	1	5	2	4	1	4	0	3	0	4	0	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52425582A>G	ENST00000420323.2	+	63	10276	c.10015A>G	c.(10015-10017)Acc>Gcc	p.T3339A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3404	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGAGATCTCCACCAAACTCAC	0.607													21	49					0	0	0	0	G	52425582	A	G	52425582	3	3	408	1	0	0	0	0	1	0	0	0	4634	159	6	5	10261	5	DNAH1	3	52425582	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3062	52425582	145596848	722	78540											
DNAH1	25981	broad.mit.edu	37	chr3	52430695	52430695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggaacgccctggagcGccataagtttgggcccctgg	7	7	14	13	2	0	0	0	0	0	0	0	2	0	2	5	4	2	1	5	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52430695G>A	ENST00000420323.2	+	72	11753	c.11492G>A	c.(11491-11493)cGc>cAc	p.R3831H		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3896	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCCTGGAGCGCCATAAGTTT	0.577													5	159					0	0	0	0	A	52430695	G	A	52430695	3	1	408	1	0	0	0	0	1	0	0	0	4634	1087	38	1	11774	1	DNAH1	3	52430695	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5113	52430695	145591735	723	78541											
STAB1	23166	broad.mit.edu	37	chr3	52547908	52547908	+	Frame_Shift_Del	DEL	C	C	-																															ctctgtaccaggtcttactgCccccccgaggggatgtgccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52547908delC	ENST00000321725.6	+	32	3434	c.3358delC	c.(3358-3360)ccfs	p.P1121fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1121					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTCTTACTGCCCCCCCGAGG	0.622													78	257	---	---	---	---					-	52547908	C	-	52547908	7	5	408	1	0	1	0	1	0	0	0	0	15327	739	26	0	3484	0	STAB1	3	52547908	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	117213	52547908	145474522	724	78542											
NT5DC2	64943	broad.mit.edu	37	chr3	52562241	52562241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtcaaactccaggctGtggcccagaaagtagtccac	10	8	11	12	0	1	1	1	0	0	1	3	1	3	1	3	3	1	3	3	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52562241G>A	ENST00000307076.4	-	6	1018	c.618C>T	c.(616-618)caC>caT	p.H206H	NT5DC2_ENST00000422318.2_Silent_p.H243H|NT5DC2_ENST00000459839.1_Silent_p.H218H|NT5DC2_ENST00000307092.4_Silent_p.H147H	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	206							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ACTCCAGGCTGTGGCCCAGAA	0.587													30	78					0	0	0	0	A	52562241	G	A	52562241	2	1	408	1	0	0	0	0	0	0	0	1	10762	1368	48	4		4	NT5DC2	3	52562241	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	14333	52562241	145460189	725	78543											
PBRM1	55193	broad.mit.edu	37	chr3	52637555	52637555	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcttttttcttcttctcGttttagtttatcttcctcta	4	24	2	11	1	6	0	0	0	6	0	8	0	7	0	2	0	0	2	2	0	3	11			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52637555G>A	ENST00000356770.4	-	16	2667	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R921*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*			Q86U86	PB1_HUMAN	polybromo 1	921					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R921*(2)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								8	19					0	0	0	0	A	52637555	G	A	52637555	4	1	408	1	0	0	0	0	0	1	0	0	11562	1153	40	1	2195	1	PBRM1	3	52637555	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	75314	52637555	145384875	726	78544											
SPCS1	28972	broad.mit.edu	37	chr3	52740853	52740853	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggctgaacagttcgggtgGactgtctatatagttatggc	8	13	14	6	1	1	1	0	1	1	0	2	2	1	2	0	4	1	3	0	4	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52740853G>A	ENST00000233025.7	+	3	752	c.342G>A	c.(340-342)tgG>tgA	p.W114*	SPCS1_ENST00000602728.1_Nonsense_Mutation_p.W47*|SPCS1_ENST00000423431.1_Nonsense_Mutation_p.W25*	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	114					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		AGTTCGGGTGGACTGTCTATA	0.438													52	200					0	0	0	0	A	52740853	G	A	52740853	4	1	408	1	0	0	0	0	0	1	0	0	15113	1183	41	2	352	2	SPCS1	3	52740853	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	103298	52740853	145281577	727	78545											
RFT1	91869	broad.mit.edu	37	chr3	53153915	53153915	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttactccatttcttgtaatAttgggtaacagatctgttat	10	18	6	7	0	2	1	0	0	2	1	3	1	3	1	1	1	2	3	1	1	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53153915A>G	ENST00000296292.3	-	6	742	c.681T>C	c.(679-681)aaT>aaC	p.N227N	RFT1_ENST00000394738.3_Silent_p.N188N	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	227					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TTCTTGTAATATTGGGTAACA	0.348													5	127					0	0	0	0	G	53153915	A	G	53153915	2	3	408	1	0	0	0	0	0	0	0	1	13339	446	16	5		5	RFT1	3	53153915	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	413062	53153915	144868515	728	78546											
PRKCD	5580	broad.mit.edu	37	chr3	53213631	53213631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagaagaagccgaccatgTatcctgagtggaagtcgacg	12	7	13	9	3	0	3	0	1	0	2	2	6	1	4	3	1	2	2	3	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53213631T>C	ENST00000394729.2	+	3	482	c.154T>C	c.(154-156)Tat>Cat	p.Y52H	PRKCD_ENST00000330452.3_Missense_Mutation_p.Y52H	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	52	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCCGACCATGTATCCTGAGTG	0.582													11	20					0	0	0	0	C	53213631	T	C	53213631	3	2	408	1	0	0	0	0	1	0	0	0	12589	1638	57	5	160	5	PRKCD	3	53213631	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	59716	53213631	144808799	729	78547											
TKT	7086	broad.mit.edu	37	chr3	53276160	53276160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggagagcacaaagcggTcattgtgcggattccggggg	8	8	16	9	3	1	1	1	0	0	1	2	3	2	2	2	5	3	1	2	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53276160T>C	ENST00000462138.1	-	2	294	c.206A>G	c.(205-207)gAc>gGc	p.D69G	TKT_ENST00000423525.2_Missense_Mutation_p.D69G|TKT_ENST00000296289.6_Missense_Mutation_p.D22G|TKT_ENST00000423516.1_Missense_Mutation_p.D69G			P29401	TKT_HUMAN	transketolase	69					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CACAAAGCGGTCATTGTGCGG	0.602													22	65					0	0	0	0	C	53276160	T	C	53276160	3	2	408	1	0	0	0	0	1	0	0	0	16028	1667	58	5	1717	5	TKT	3	53276160	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	62529	53276160	144746270	730	78548											
DCP1A	55802	broad.mit.edu	37	chr3	53326391	53326391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaatcagactggcatggCttagctcagggactggctgg	8	9	15	9	0	2	1	2	0	0	1	2	2	2	2	0	6	1	5	0	6	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53326391C>T	ENST00000607628.1	-	7	1200	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.S364N|DCP1A_ENST00000606822.1_Missense_Mutation_p.S326N	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	364					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		ACTGGCATGGCTTAGCTCAGG	0.567													32	89					0	0	0	0	T	53326391	C	T	53326391	3	4	408	1	0	0	0	0	1	0	0	0	4330	797	28	4	673	4	DCP1A	3	53326391	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	50231	53326391	144696039	731	78549											
WNT5A	7474	broad.mit.edu	37	chr3	55504242	55504242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtcgtagccacggcCgcagcacatgagctcgcagc	9	5	13	14	4	0	1	0	1	0	0	2	2	0	1	2	2	5	5	2	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:55504242C>T	ENST00000474267.1	-	6	1542	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	WNT5A_ENST00000497027.1_Missense_Mutation_p.G326S|WNT5A_ENST00000264634.4_Missense_Mutation_p.G341S			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	341					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TAGCCACGGCCGCAGCACATG	0.627													22	90					0	0	0	0	T	55504242	C	T	55504242	3	4	408	1	0	0	0	0	1	0	0	0	17487	652	23	1	125	1	WNT5A	3	55504242	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2177851	55504242	142518188	732	78550											
WNT5A	7474	broad.mit.edu	37	chr3	55513547	55513547	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagaggctgtgctcctatAatatatacttctgacatctg	11	13	8	9	0	2	2	0	1	2	1	3	3	3	2	1	1	2	2	1	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:55513547A>T	ENST00000474267.1	-	4	707	c.186T>A	c.(184-186)atT>atA	p.I62I	WNT5A_ENST00000497027.1_Silent_p.I47I|WNT5A_ENST00000264634.4_Silent_p.I62I			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	62					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GTGCTCCTATAATATATACTT	0.488													51	125					0	0	0	0	T	55513547	A	T	55513547	2	4	408	1	0	0	0	0	0	0	0	1	17487	358	13	5		5	WNT5A	3	55513547	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	9305	55513547	142508883	733	78551											
CCDC66	285331	broad.mit.edu	37	chr3	56653450	56653450	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgggatttctgaatcaTcccattttattccgtatgtt	8	18	6	9	1	3	1	1	1	2	0	5	2	5	2	2	1	0	2	2	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:56653450T>A	ENST00000394672.3	+	16	2600	c.2530T>A	c.(2530-2532)Tcc>Acc	p.S844T	CCDC66_ENST00000326595.7_Missense_Mutation_p.S810T|CCDC66_ENST00000436465.2_Missense_Mutation_p.S844T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	844										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TTCTGAATCATCCCATTTTAT	0.378													25	69					0	0	0	0	A	56653450	T	A	56653450	3	1	408	1	0	0	0	0	1	0	0	0	2865	1435	50	5	2592	5	CCDC66	3	56653450	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1139903	56653450	141368980	734	78552											
ARHGEF3	50650	broad.mit.edu	37	chr3	56771216	56771216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagtaactacttaccacGccccgattgttcttcagttc	9	12	8	12	2	2	0	1	0	1	0	3	2	2	1	3	1	3	3	3	1	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:56771216G>A	ENST00000413728.2	-	8	1599	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	ARHGEF3_ENST00000497267.1_Silent_p.G317G|ARHGEF3_ENST00000296315.3_Silent_p.G346G|ARHGEF3_ENST00000496106.1_Silent_p.G352G|ARHGEF3_ENST00000495373.1_Silent_p.G346G|ARHGEF3_ENST00000338458.4_Silent_p.G378G	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	346	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TACTTACCACGCCCCGATTGT	0.473													34	112					0	0	0	0	A	56771216	G	A	56771216	2	1	408	1	0	0	0	0	0	0	0	1	906	1074	38	1		1	ARHGEF3	3	56771216	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	117766	56771216	141251214	735	78553											
SLMAP	7871	broad.mit.edu	37	chr3	57850536	57850536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggacttttatttacagtaCggttagaacatcttcaggag	11	15	9	6	1	2	1	1	0	1	1	2	3	2	3	0	3	3	2	0	3	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:57850536C>T	ENST00000383718.3	+	11	1236	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000295951.3_Intron|SLMAP_ENST00000428312.1_Missense_Mutation_p.R380W|SLMAP_ENST00000449503.2_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	380					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		ATTTACAGTACGGTTAGAACA	0.289													10	25					0	0	0	0	T	57850536	C	T	57850536	3	4	408	1	0	0	0	0	1	0	0	0	14837	551	19	1		1	SLMAP	3	57850536	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1079320	57850536	140171894	736	78554											
FLNB	2317	broad.mit.edu	37	chr3	58090906	58090906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggcggtcagcggacttCgtggtagaatccattggctc	6	10	15	10	4	1	1	1	0	0	1	5	2	2	2	1	5	1	2	1	5	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:58090906C>A	ENST00000357272.4	+	11	1875	c.1710C>A	c.(1708-1710)ttC>ttA	p.F570L	FLNB_ENST00000358537.3_Missense_Mutation_p.F570L|FLNB_ENST00000348383.5_Missense_Mutation_p.F570L|FLNB_ENST00000295956.4_Missense_Mutation_p.F570L|FLNB_ENST00000419752.2_Missense_Mutation_p.F401L|FLNB_ENST00000429972.2_Missense_Mutation_p.F570L|FLNB_ENST00000493452.1_Missense_Mutation_p.F401L|FLNB_ENST00000490882.1_Missense_Mutation_p.F570L			O75369	FLNB_HUMAN	filamin B, beta	570					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGCGGACTTCGTGGTAGAAT	0.582													29	98					6.07407e-21	6.40789e-21	1	0	A	58090906	C	A	58090906	3	1	408	1	0	0	0	0	1	0	0	0	5979	883	31	3	1752	3	FLNB	3	58090906	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	240370	58090906	139931524	737	78555											
PDHB	5162	broad.mit.edu	37	chr3	58419401	58419401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaagcgcctcttcagcAgcccggagacctggcaggga	10	5	14	12	2	2	2	1	1	1	1	2	4	2	3	3	3	3	2	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:58419401A>G	ENST00000302746.6	-	2	95	c.53T>C	c.(52-54)cTg>cCg	p.L18P	PDHB_ENST00000485460.1_Missense_Mutation_p.L18P|PDHB_ENST00000474765.1_Intron	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	18					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	CCTCTTCAGCAGCCCGGAGAC	0.711													3	19					0	0	0	0	G	58419401	A	G	58419401	3	3	408	1	0	0	0	0	1	0	0	0	11737	188	7	5	1062	5	PDHB	3	58419401	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	328495	58419401	139603029	738	78556											
PTPRG	5793	broad.mit.edu	37	chr3	62261570	62261570	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcacacagtgtaatgcaaAatatgtggaatgtttcagtg	13	12	11	5	0	2	0	2	0	0	0	2	1	2	1	0	2	1	3	0	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:62261570A>G	ENST00000474889.1	+	24	3865	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.K1134R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1163	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGTAATGCAAAATATGTGGAA	0.333													5	43					0	0	0	0	G	62261570	A	G	62261570	3	3	408	1	0	0	0	0	1	0	0	0	12884	14	1	5	3582	5	PTPRG	3	62261570	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3842169	62261570	135760860	739	78557											
C3orf14	57415	broad.mit.edu	37	chr3	62307621	62307621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagagtatcacaaagattaAtgttacttcaacaaatggag	17	11	7	6	0	2	2	2	0	0	2	2	3	2	3	0	1	2	2	0	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:62307621A>G	ENST00000494481.1	+	4	384	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	C3orf14_ENST00000462069.1_Missense_Mutation_p.M24V|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.M24V|C3orf14_ENST00000486169.1_3'UTR|C3orf14_ENST00000232519.5_Missense_Mutation_p.M24V|PTPRG-AS1_ENST00000490916.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	24										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		ACAAAGATTAATGTTACTTCA	0.299													12	28					0	0	0	0	G	62307621	A	G	62307621	3	3	408	1	0	0	0	0	1	0	0	0	2228	101	4	5	76	5	C3orf14	3	62307621	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	46051	62307621	135714809	740	78558											
ATXN7	6314	broad.mit.edu	37	chr3	63981379	63981379	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaaccacactaaatgcAcagcctgctgcttcaggggc	11	7	10	13	0	1	0	1	0	0	0	1	1	1	1	2	3	5	3	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:63981379A>G	ENST00000398590.3	+	12	2434	c.1881A>G	c.(1879-1881)gcA>gcG	p.A627A	ATXN7_ENST00000484332.1_Silent_p.A482A|ATXN7_ENST00000295900.6_Silent_p.A627A|ATXN7_ENST00000487717.1_Silent_p.A627A|ATXN7_ENST00000538065.1_Silent_p.A627A	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	627					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACTAAATGCACAGCCTGCTG	0.547													49	143					0	0	0	0	G	63981379	A	G	63981379	2	3	408	1	0	0	0	0	0	0	0	1	1219	146	6	5		5	ATXN7	3	63981379	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1673758	63981379	134041051	741	78559											
ATXN7	6314	broad.mit.edu	37	chr3	63982054	63982054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaacaacagcagcagcaaAcccacaaaggttgccaaagt	18	4	7	12	0	1	0	1	0	0	0	1	0	1	0	2	1	7	4	2	1	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:63982054A>G	ENST00000398590.3	+	12	3109	c.2556A>G	c.(2554-2556)aaA>aaG	p.K852K	ATXN7_ENST00000484332.1_Silent_p.K707K|ATXN7_ENST00000295900.6_Silent_p.K852K|ATXN7_ENST00000487717.1_Silent_p.K852K|ATXN7_ENST00000538065.1_Silent_p.K852K	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	852					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCAGCAGCAAACCCACAAAGG	0.507													10	81					0	0	0	0	G	63982054	A	G	63982054	2	3	408	1	0	0	0	0	0	0	0	1	1219	40	2	5		5	ATXN7	3	63982054	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	675	63982054	134040376	742	78560											
ADAMTS9	56999	broad.mit.edu	37	chr3	64524953	64524953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtccttcgcttgtccttgCaaactgtaagtcagtggctg	7	14	10	10	1	1	0	1	0	0	0	4	0	3	0	2	1	2	4	2	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:64524953C>T	ENST00000498707.1	-	37	5881	c.5539G>A	c.(5539-5541)Gca>Aca	p.A1847T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1819T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1847	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTGTCCTTGCAAACTGTAAG	0.552													15	52					0	0	0	0	T	64524953	C	T	64524953	3	4	408	1	0	0	0	0	1	0	0	0	273	710	25	4	280	4	ADAMTS9	3	64524953	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	542899	64524953	133497477	743	78561											
ADAMTS9	56999	broad.mit.edu	37	chr3	64633651	64633652	+	Frame_Shift_Del	DEL	GT	GT	-																															ctccgtcccatcggcccaggGtgtgtgctgagtccggcagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:64633651_64633652delGT	ENST00000498707.1	-	11	2016_2017	c.1674_1675delAC	c.(1672-1677)acccfs	p.TP558fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Del_p.TP530fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	558	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCGGCCCAGGGTGTGTGCTGAG	0.51													47	163	---	---	---	---					-	64633652	GT	-	64633651	7	5	408	1	0	1	0	1	0	0	0	0	273	1261	44	0	4248	0	ADAMTS9	3	64633651	Frame_Shift_Del	DEL	GT	TCGA-F7-A624-01A-22D-A30E-08	108698	64633651	133388779	744	78562											
MAGI1	9223	broad.mit.edu	37	chr3	65342171	65342171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccctttctcggtggctgGctctgtcctctctgttcctt	0	18	8	15	1	3	0	0	0	3	0	8	0	6	0	3	3	0	3	3	3	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:65342171G>A	ENST00000402939.2	-	23	4270	c.4271C>T	c.(4270-4272)gCc>gTc	p.A1424V	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1453					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCGGTGGCTGGCTCTGTCCTC	0.622													30	120					0	0	0	0	A	65342171	G	A	65342171	3	1	408	1	0	0	0	0	1	0	0	0	9259	1203	42	4	121	4	MAGI1	3	65342171	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	708520	65342171	132680259	745	78563											
LRIG1	26018	broad.mit.edu	37	chr3	66463372	66463372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgctgaagcttcagcacCtccaagctgttgagcccctg	7	11	9	14	1	1	2	1	2	0	0	3	2	2	2	4	0	4	5	4	0	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:66463372C>A	ENST00000383703.3	-	6	1317	c.714G>T	c.(712-714)gaG>gaT	p.E238D	LRIG1_ENST00000273261.3_Missense_Mutation_p.E238D			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	238						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCTTCAGCACCTCCAAGCTGT	0.542													8	43					1.06961e-07	1.09985e-07	1	0	A	66463372	C	A	66463372	3	1	408	1	0	0	0	0	1	0	0	0	9008	680	24	4	2623	4	LRIG1	3	66463372	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1121201	66463372	131559058	746	78564											
KBTBD8	84541	broad.mit.edu	37	chr3	67058494	67058494	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaatcatcaacgtatgttTactgtagaagcctatgatat	14	13	8	6	1	2	2	2	1	0	1	2	3	2	3	1	1	3	3	1	1	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:67058494T>C	ENST00000295568.4	+	4	1544	c.1413T>C	c.(1411-1413)ttT>ttC	p.F471F	KBTBD8_ENST00000417314.2_Silent_p.F497F|KBTBD8_ENST00000460576.1_Silent_p.F55F	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	497										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AACGTATGTTTACTGTAGAAG	0.403													16	115					0	0	0	0	C	67058494	T	C	67058494	2	2	408	1	0	0	0	0	0	0	0	1	8052	1751	61	5		5	KBTBD8	3	67058494	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	595122	67058494	130963936	747	78565											
TMF1	7110	broad.mit.edu	37	chr3	69097622	69097622	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggctttgtgattgctttAggagaggctattggtggact	7	15	14	5	0	0	2	0	1	0	1	0	4	0	3	0	5	1	3	0	5	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:69097622A>G	ENST00000543976.1	-	2	480	c.234T>C	c.(232-234)ccT>ccC	p.P78P	TMF1_ENST00000398559.2_Silent_p.P78P|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	78					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGATTGCTTTAGGAGAGGCTA	0.458													62	168					0	0	0	0	G	69097622	A	G	69097622	2	3	408	1	0	0	0	0	0	0	0	1	16322	407	15	5		5	TMF1	3	69097622	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2039128	69097622	128924808	748	78566											
MITF	4286	broad.mit.edu	37	chr3	69987103	69987103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgagcttgccatgtccaaAccagcctggcgatcatgtca	9	9	9	14	1	2	1	2	1	0	0	3	2	3	1	5	1	4	1	5	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:69987103A>G	ENST00000352241.4	+	3	648	c.485A>G	c.(484-486)aAc>aGc	p.N162S	MITF_ENST00000328528.6_Missense_Mutation_p.N161S|MITF_ENST00000314557.6_Missense_Mutation_p.N55S|MITF_ENST00000448226.2_Missense_Mutation_p.N162S|MITF_ENST00000314589.5_Missense_Mutation_p.N146S|MITF_ENST00000531774.1_Intron|MITF_ENST00000394355.2_Missense_Mutation_p.N137S|MITF_ENST00000394351.3_Missense_Mutation_p.N55S|MITF_ENST00000472437.1_Missense_Mutation_p.N110S|MITF_ENST00000394348.1_3'UTR	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	162					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCATGTCCAAACCAGCCTGGC	0.522			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						21	76					0	0	0	0	G	69987103	A	G	69987103	3	3	408	1	0	0	0	0	1	0	0	0	9665	43	2	5	697	5	MITF	3	69987103	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	889481	69987103	128035327	749	78567											
GXYLT2	727936	broad.mit.edu	37	chr3	73006420	73006420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttgggaggacatgtTgtaccctctgtaccagaagt	8	11	12	10	0	1	1	0	0	1	1	1	3	1	3	3	3	2	4	3	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:73006420T>C	ENST00000389617.4	+	5	1054	c.893T>C	c.(892-894)tTg>tCg	p.L298S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	298					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GAGGACATGTTGTACCCTCTG	0.413													15	36					0	0	0	0	C	73006420	T	C	73006420	3	2	408	1	0	0	0	0	1	0	0	0	6954	1821	63	5	911	5	GXYLT2	3	73006420	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3019317	73006420	125016010	750	78568											
PDZRN3	23024	broad.mit.edu	37	chr3	73433507	73433507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatctgagagctcgtgtCtgcgcacgtcgatgctggtg	6	12	14	9	4	2	2	0	2	2	1	4	4	2	2	0	1	3	3	0	1	1	1	rs147152211		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:73433507C>A	ENST00000263666.4	-	10	2324	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R459I|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R394I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R394I|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R454I	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	737							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GAGCTCGTGTCTGCGCACGTC	0.617													15	39					3.35478e-16	3.52021e-16	1	0	A	73433507	C	A	73433507	3	1	408	1	0	0	0	0	1	0	0	0	11780	913	32	2	994	2	PDZRN3	3	73433507	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	427087	73433507	124588923	751	78569											
PDZRN3	23024	broad.mit.edu	37	chr3	73450159	73450159	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcatgggctgagggatGcctgaaaagagatgcaacat	13	9	13	6	0	1	3	1	2	0	1	1	5	1	4	1	2	3	3	1	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:73450159G>A	ENST00000263666.4	-	5	1282	c.1166_splice	c.e5-1	p.H390_splice	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Splice_Site_p.H112_splice|PDZRN3_ENST00000462146.2_Splice_Site_p.H47_splice|PDZRN3_ENST00000466780.1_Splice_Site_p.H47_splice|PDZRN3_ENST00000479530.1_Splice_Site_p.H107_splice	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	390							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGAGGGATGCCTGAAAAGA	0.478													7	94					0	0	0	0	A	73450159	G	A	73450159	5	1	408	1	0	0	0	0	0	0	1	0	11780	1333	46	4	2056	4	PDZRN3	3	73450159	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	16652	73450159	124572271	752	78570											
ROBO1	6091	broad.mit.edu	37	chr3	78710237	78710237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctccttgaaattcattaaAaaaagggcgagccttaattt	14	13	7	7	1	1	1	1	1	0	0	2	2	2	1	2	1	2	1	2	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:78710237A>G	ENST00000436010.2	-	14	3143	c.2146T>C	c.(2146-2148)Ttt>Ctt	p.F716L	ROBO1_ENST00000464233.1_Missense_Mutation_p.F755L|ROBO1_ENST00000495273.1_Missense_Mutation_p.F719L|ROBO1_ENST00000467549.1_Missense_Mutation_p.F719L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	755	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AATTCATTAAAAAAAGGGCGA	0.403													11	26					0	0	0	0	G	78710237	A	G	78710237	3	3	408	1	0	0	0	0	1	0	0	0	13598	14	1	5	2756	5	ROBO1	3	78710237	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5260078	78710237	119312193	753	78571											
CHMP2B	25978	broad.mit.edu	37	chr3	87302561	87302561	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatatcccctagtcaatgaTacacttgatgacatctttga	12	13	5	11	0	2	4	1	4	1	0	3	4	3	4	3	0	1	0	3	0	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:87302561T>A	ENST00000263780.4	+	5	670	c.432T>A	c.(430-432)gaT>gaA	p.D144E	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000494980.1_Missense_Mutation_p.D114E|CHMP2B_ENST00000471660.1_Missense_Mutation_p.D103E	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	144					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TAGTCAATGATACACTTGATG	0.368													14	40					0	0	0	0	A	87302561	T	A	87302561	3	1	408	1	0	0	0	0	1	0	0	0	3384	1403	49	5	450	5	CHMP2B	3	87302561	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	8592324	87302561	110719869	754	78572											
EPHA3	2042	broad.mit.edu	37	chr3	89456441	89456441	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctccatctctggtgaaagTagccaagtggtcatgatcgc	9	12	10	10	1	3	2	1	2	2	0	6	2	3	2	2	2	1	1	2	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:89456441T>C	ENST00000336596.2	+	8	1842	c.1617T>C	c.(1615-1617)agT>agC	p.S539S	EPHA3_ENST00000494014.1_Silent_p.S539S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	539						extracellular region|integral to plasma membrane	ATP binding			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)		CTGGTGAAAGTAGCCAAGTGG	0.398										TSP Lung(6;0.00050)			7	46					0	0	0	0	C	89456441	T	C	89456441	2	2	408	1	0	0	0	0	0	0	0	1	5206	1635	57	5		5	EPHA3	3	89456441	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2153880	89456441	108565989	755	78573											
DHFRL1	200895	broad.mit.edu	37	chr3	93780281	93780281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattcattcctgagcggcggCctgggcaggtccccgttctt	5	11	12	13	3	2	1	1	1	1	0	4	1	4	1	4	4	1	2	4	4	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:93780281C>T	ENST00000394221.2	-	2	524	c.75G>A	c.(73-75)agG>agA	p.R25R	DHFRL1_ENST00000314636.2_Silent_p.R25R|DHFRL1_ENST00000481631.1_5'UTR	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	25	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TGAGCGGCGGCCTGGGCAGGT	0.502													12	162					0	0	0	0	T	93780281	C	T	93780281	2	4	408	1	0	0	0	0	0	0	0	1	4519	738	26	4		4	DHFRL1	3	93780281	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4323840	93780281	104242149	756	78574											
EPHA6	285220	broad.mit.edu	37	chr3	97185296	97185296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacaaaactgtactggCttaatgaaaagtgggacttt	15	11	10	5	0	0	2	0	2	0	0	0	3	0	3	0	2	2	2	0	2	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97185296C>T	ENST00000514100.1	+	4	282	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Missense_Mutation_p.L14F|EPHA6_ENST00000442602.2_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						actgtactggcttaatgaaaa	0.433													11	54					0	0	0	0	T	97185296	C	T	97185296	3	4	408	1	0	0	0	0	1	0	0	0	5209	797	28	4	1958	4	EPHA6	3	97185296	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3405015	97185296	100837134	757	78575											
GABRR3	200959	broad.mit.edu	37	chr3	97705720	97705720	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctcatgaagtctTctgagtttagagagagggaa	11	15	10	5	0	4	4	1	2	4	2	5	6	4	5	0	1	0	1	0	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97705720T>C	ENST00000472788.1	-	0	1212					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						CATGAAGTCTTCTGAGTTTAG	0.433													6	8					0	0	0	0	C	97705720	T	C	97705720	1	2	408	0	1	0	0	0	0	0	0	0	6226	1783	62	5		5	GABRR3	3	97705720	RNA	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	520424	97705720	100316710	758	78576											
GABRR3	200959	broad.mit.edu	37	chr3	97731363	97731363	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgctaggaaaggagaGcctctcgtctttccagtaat	9	12	11	9	1	2	1	0	0	2	1	4	3	3	2	2	2	3	3	2	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97731363G>A	ENST00000472788.1	-	0	356					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GGAAAGGAGAGCCTCTCGTCT	0.393													28	48					0	0	0	0	A	97731363	G	A	97731363	1	1	408	0	1	0	0	0	0	0	0	0	6226	971	34	4		4	GABRR3	3	97731363	RNA	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	25643	97731363	100291067	759	78577											
OR5H6	79295	broad.mit.edu	37	chr3	97983477	97983477	+	Frame_Shift_Del	DEL	T	T	-																															tctctgaatgcatggtacaaTttttttcccttgtaaccact																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97983477delT	ENST00000383696.2	+	1	390	c.349delT	c.(349-351)ttfs	p.F118fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGGTACAATTTTTTTCCCT	0.393													52	162	---	---	---	---					-	97983477	T	-	97983477	7	5	408	1	0	1	0	1	0	0	0	0	11234	1493	52	0	351	0	OR5H6	3	97983477	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	252114	97983477	100038953	760	78578											
CLDND1	56650	broad.mit.edu	37	chr3	98240028	98240028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgggtatggtgatacAccgtctccacaatcccactg	8	13	9	11	1	1	1	0	1	1	0	3	1	2	1	3	2	1	2	3	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:98240028A>G	ENST00000503004.1	-	2	1120	c.241T>C	c.(241-243)Tgt>Cgt	p.C81R	CLDND1_ENST00000507874.1_Missense_Mutation_p.C81R|CLDND1_ENST00000394185.2_Missense_Mutation_p.C81R|CLDND1_ENST00000437922.1_Missense_Mutation_p.C104R|CLDND1_ENST00000341181.6_Missense_Mutation_p.C81R|CLDND1_ENST00000394181.2_Missense_Mutation_p.C81R|CLDND1_ENST00000394180.2_Missense_Mutation_p.C81R|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.C81R|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.C81R			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	81						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						ATGGTGATACACCGTCTCCAC	0.383													6	145					0	0	0	0	G	98240028	A	G	98240028	3	3	408	1	0	0	0	0	1	0	0	0	3523	159	6	5	536	5	CLDND1	3	98240028	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	256551	98240028	99782402	761	78579											
DCBLD2	131566	broad.mit.edu	37	chr3	98538090	98538090	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatctatttgtaaccactggTattcatcagtggcaaaagca	14	12	7	8	0	3	0	2	0	1	0	3	0	3	0	1	2	2	4	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:98538090T>A	ENST00000326840.6	-	8	1405	c.1043A>T	c.(1042-1044)tAc>tTc	p.Y348F	DCBLD2_ENST00000326857.9_Missense_Mutation_p.Y348F	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	348	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TAACCACTGGTATTCATCAGT	0.378													4	10					0	0	0	0	A	98538090	T	A	98538090	3	1	408	1	0	0	0	0	1	0	0	0	4313	1638	57	5	1320	5	DCBLD2	3	98538090	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	298062	98538090	99484340	762	78580											
TOMM70A	9868	broad.mit.edu	37	chr3	100087929	100087929	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggttccaaatcaatacaTttatcatacatttcatcagc	13	15	3	10	0	5	0	4	0	1	0	6	0	6	0	1	1	3	1	1	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:100087929T>C	ENST00000284320.5	-	10	1951	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	501					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						AATCAATACATTTATCATACA	0.313													20	74					0	0	0	0	C	100087929	T	C	100087929	2	2	408	1	0	0	0	0	0	0	0	1	16457	1490	52	5		5	TOMM70A	3	100087929	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1549839	100087929	97934501	763	78581											
GPR128	84873	broad.mit.edu	37	chr3	100362380	100362380	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctcataggagctagcagTtctctagtttctagttcaac	9	15	7	10	0	4	0	2	0	3	0	6	1	4	1	0	1	3	5	0	1	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:100362380T>C	ENST00000273352.3	+	8	1117	c.849T>C	c.(847-849)agT>agC	p.S283S	GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	283					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGCTAGCAGTTCTCTAGTTT	0.373													16	46					0	0	0	0	C	100362380	T	C	100362380	2	2	408	1	0	0	0	0	0	0	0	1	6690	1722	60	5		5	GPR128	3	100362380	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	274451	100362380	97660050	764	78582											
NFKBIZ	64332	broad.mit.edu	37	chr3	101576014	101576014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcccagttgcctgtcttTtgtgaatgcaaaggtacacc	8	12	10	11	0	1	1	0	1	1	0	1	1	1	1	3	1	4	4	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:101576014T>C	ENST00000326172.5	+	10	2037	c.1922T>C	c.(1921-1923)tTt>tCt	p.F641S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F519S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F541S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	641	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TGCCTGTCTTTTGTGAATGCA	0.478													15	74					0	0	0	0	C	101576014	T	C	101576014	3	2	408	1	0	0	0	0	1	0	0	0	10453	1841	64	5	1960	5	NFKBIZ	3	101576014	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1213634	101576014	96446416	765	78583											
MORC1	27136	broad.mit.edu	37	chr3	108725919	108725919	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtgacagtgatttcgTccactggtataaattgaggc	11	12	12	6	1	0	3	0	3	0	0	2	4	1	4	1	3	0	1	1	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:108725919T>A	ENST00000232603.5	-	18	1806	c.1724A>T	c.(1723-1725)gAc>gTc	p.D575V	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	575					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGTGATTTCGTCCACTGGTAT	0.368													15	56					0	0	0	0	A	108725919	T	A	108725919	3	1	408	1	0	0	0	0	1	0	0	0	9771	1667	58	5	1274	5	MORC1	3	108725919	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7149905	108725919	89296511	766	78584											
MORC1	27136	broad.mit.edu	37	chr3	108788570	108788570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttaaaatacagaacagAtgtgtaggctctgaatgacc	14	10	11	6	0	1	4	0	2	1	2	1	4	1	4	1	2	2	3	1	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:108788570A>T	ENST00000232603.5	-	9	806	c.724T>A	c.(724-726)Tct>Act	p.S242T	MORC1_ENST00000483760.1_Missense_Mutation_p.S242T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	242					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TACAGAACAGATGTGTAGGCT	0.378													17	43					0	0	0	0	T	108788570	A	T	108788570	3	4	408	1	0	0	0	0	1	0	0	0	9771	333	12	5	2310	5	MORC1	3	108788570	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	62651	108788570	89233860	767	78585											
CD96	10225	broad.mit.edu	37	chr3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-																															cattccagaacgaacagcctCacacacacacacacacacac																								rs71968470		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													3	5	---	---	---	---					-	111197868	CACACA	-	111197863	6	5	408	0	1	1	0	1	0	0	0	0	3077	841	29	0		0	CD96	3	111197863	RNA	DEL	CACACA	TCGA-F7-A624-01A-22D-A30E-08	2409293	111197863	86824567	768	78586											
CD200R1	131450	broad.mit.edu	37	chr3	112648055	112648055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctaacacttggaggtgatAtccacgatggaaattcccat	13	10	8	10	1	0	1	0	1	0	0	2	4	2	3	3	3	1	0	3	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:112648055A>G	ENST00000471858.1	-	3	665	c.433T>C	c.(433-435)Tat>Cat	p.Y145H	CD200R1_ENST00000440122.2_Missense_Mutation_p.Y168H|CD200R1_ENST00000308611.3_Missense_Mutation_p.Y168H|CD200R1_ENST00000295863.4_Missense_Mutation_p.Y123H|CD200R1_ENST00000490004.1_Missense_Mutation_p.Y145H	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	145	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGAGGTGATATCCACGATGG	0.418													41	100					0	0	0	0	G	112648055	A	G	112648055	3	3	408	1	0	0	0	0	1	0	0	0	3010	449	16	5	611	5	CD200R1	3	112648055	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1450192	112648055	85374375	769	78587											
CD200R1	131450	broad.mit.edu	37	chr3	112648188	112648188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggttattctctcatcagtAcagttggtttccttggtctc	6	17	8	10	0	4	0	2	0	2	0	7	0	5	0	1	3	1	4	1	3	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:112648188A>G	ENST00000471858.1	-	3	532	c.300T>C	c.(298-300)tgT>tgC	p.C100C	CD200R1_ENST00000440122.2_Silent_p.C123C|CD200R1_ENST00000308611.3_Silent_p.C123C|CD200R1_ENST00000295863.4_Silent_p.C78C|CD200R1_ENST00000490004.1_Silent_p.C100C	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	100	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TCTCATCAGTACAGTTGGTTT	0.433													37	101					0	0	0	0	G	112648188	A	G	112648188	2	3	408	1	0	0	0	0	0	0	0	1	3010	389	14	5		5	CD200R1	3	112648188	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	133	112648188	85374242	770	78588											
C3orf17	25871	broad.mit.edu	37	chr3	112730221	112730221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaggctcatataacaaaAtcaacctttttaagacacct	18	10	3	10	0	2	1	2	0	0	1	2	1	2	1	2	1	2	1	2	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:112730221A>G	ENST00000314400.5	-	6	775	c.584T>C	c.(583-585)aTt>aCt	p.I195T	C3orf17_ENST00000383675.2_Missense_Mutation_p.I125T|C3orf17_ENST00000393857.2_Missense_Mutation_p.I59T	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	195						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATATAACAAAATCAACCTTTT	0.343													41	100					0	0	0	0	G	112730221	A	G	112730221	3	3	408	1	0	0	0	0	1	0	0	0	2230	101	4	5	1135	5	C3orf17	3	112730221	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	82033	112730221	85292209	771	78589											
ATP6V1A	523	broad.mit.edu	37	chr3	113507640	113507640	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacagtctctatccaagtAttctaacagtgatgtaatca	14	13	5	9	0	4	1	2	1	2	0	6	1	5	1	1	0	1	2	1	0	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:113507640A>T	ENST00000273398.3	+	7	905	c.797A>T	c.(796-798)tAt>tTt	p.Y266F	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Y233F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	266					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTATCCAAGTATTCTAACAGT	0.433													39	89					0	0	0	0	T	113507640	A	T	113507640	3	4	408	1	0	0	0	0	1	0	0	0	1181	449	16	5	819	5	ATP6V1A	3	113507640	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	777419	113507640	84514790	772	78590											
KIAA1407	57577	broad.mit.edu	37	chr3	113684127	113684127	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctacgaagttgctgtcGcctttcttcttttactcttt	4	20	5	12	2	3	0	0	0	3	0	5	1	4	0	2	0	3	2	2	0	3	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:113684127G>A	ENST00000295878.3	-	17	2832	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	896										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGTTGCTGTCGCCTTTCTTCT	0.413													39	84					0	0	0	0	A	113684127	G	A	113684127	4	1	408	1	0	0	0	0	0	1	0	0	8280	1095	38	1	128	1	KIAA1407	3	113684127	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	176487	113684127	84338303	773	78591											
QTRTD1	79691	broad.mit.edu	37	chr3	113804627	113804627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgaccaatgagctgctggCcggagtcctgcttatgatgc	7	10	14	10	1	0	3	0	3	0	0	1	4	1	4	3	3	4	3	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:113804627C>T	ENST00000281273.4	+	10	1381	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V	QTRTD1_ENST00000493014.1_Missense_Mutation_p.A269V|QTRTD1_ENST00000485050.1_Missense_Mutation_p.A387V|QTRTD1_ENST00000479882.1_Missense_Mutation_p.A252V	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	375					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GAGCTGCTGGCCGGAGTCCTG	0.478													54	148					0	0	0	0	T	113804627	C	T	113804627	3	4	408	1	0	0	0	0	1	0	0	0	12968	739	26	4	1154	4	QTRTD1	3	113804627	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	120500	113804627	84217803	774	78592											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-																															cacctgggggtgtgcctgcaGggggggtcccattgctggca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:114058003delG	ENST00000462705.1	-	12	2677	c.1856delC	c.(1855-1857)ctfs	p.P619fs	ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													28	95	---	---	---	---					-	114058003	G	-	114058003	7	5	408	1	0	1	0	1	0	0	0	0	17624	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	253376	114058003	83964427	775	78593											
ZBTB20	26137	broad.mit.edu	37	chr3	114070150	114070150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccgctgtaaaaagagcGctcgccgctgccattctgca	8	8	11	14	5	1	1	0	0	1	1	2	1	1	1	3	0	4	5	3	0	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:114070150G>A	ENST00000462705.1	-	11	1377	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	ZBTB20_ENST00000474710.1_Missense_Mutation_p.R259C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R186C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R186C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R186C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R186C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R186C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAAAAAGAGCGCTCGCCGCTG	0.642													4	101					0	0	0	0	A	114070150	G	A	114070150	3	1	408	1	0	0	0	0	1	0	0	0	17624	1087	38	1	1458	1	ZBTB20	3	114070150	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	12147	114070150	83952280	776	78594											
LSAMP	4045	broad.mit.edu	37	chr3	116163801	116163801	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctgcgaacaggcagTcctgtgggaagaaggcagag	11	5	15	10	2	0	2	0	0	0	2	2	4	2	3	2	3	2	3	2	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:116163801T>C	ENST00000539563.1	-	2	68	c.67_splice	c.e2-1	p.G23_splice	LSAMP_ENST00000490035.1_Silent_p.G26G			Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	26					cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAACAGGCAGTCCTGTGGGAA	0.587													20	48					0	0	0	0	C	116163801	T	C	116163801	5	2	408	1	0	0	0	0	0	0	1	0	9112	1654	58	5	966	5	LSAMP	3	116163801	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2093651	116163801	81858629	777	78595											
IGSF11	152404	broad.mit.edu	37	chr3	118621703	118621703	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggattgttgctccagtaTcgactgttgtaggcattgga	7	16	12	6	1	0	0	0	0	0	0	2	3	1	2	1	3	1	6	1	3	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:118621703T>C	ENST00000354673.2	-	9	1337	c.957A>G	c.(955-957)cgA>cgG	p.R319R	IGSF11_ENST00000425327.2_Silent_p.R319R|IGSF11_ENST00000441144.2_Silent_p.R295R|IGSF11_ENST00000393775.2_Silent_p.R320R|IGSF11_ENST00000489689.1_Silent_p.R296R|IGSF11_ENST00000491903.1_Silent_p.R292R	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	320					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTCCAGTATCGACTGTTGT	0.453													4	155					0	0	0	0	C	118621703	T	C	118621703	2	2	408	1	0	0	0	0	0	0	0	1	7651	1422	50	5		5	IGSF11	3	118621703	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2457902	118621703	79400727	778	78596											
PLA1A	51365	broad.mit.edu	37	chr3	119325767	119325767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggaagcagtgacctcCaaaactctgggttcaatgcc	13	8	10	10	0	2	2	1	1	1	1	3	3	3	3	3	2	3	2	3	2	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:119325767C>A	ENST00000273371.4	+	2	292	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K	PLA1A_ENST00000495992.1_Missense_Mutation_p.Q74K|PLA1A_ENST00000494440.1_Missense_Mutation_p.Q58K|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	74					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGTGACCTCCAAAACTCTGG	0.458													65	187					3.07184e-27	3.25436e-27	1	0	A	119325767	C	A	119325767	3	1	408	1	0	0	0	0	1	0	0	0	12060	595	21	4	226	4	PLA1A	3	119325767	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	704064	119325767	78696663	779	78597											
GSK3B	2932	broad.mit.edu	37	chr3	119631553	119631553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcagatttgtacttacctAtactagaggtataatcagtg	13	15	7	6	0	2	2	2	0	0	2	2	2	2	2	1	1	3	2	1	1	7	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:119631553A>G	ENST00000264235.8	-	6	1695	c.713T>C	c.(712-714)aTa>aCa	p.I238T	GSK3B_ENST00000316626.5_Missense_Mutation_p.I238T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	238	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	p.I238T(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTACTTACCTATACTAGAGGT	0.358													8	24					0	0	0	0	G	119631553	A	G	119631553	3	3	408	1	0	0	0	0	1	0	0	0	6874	449	16	5	616	5	GSK3B	3	119631553	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	305786	119631553	78390877	780	78598											
HCLS1	3059	broad.mit.edu	37	chr3	121351340	121351340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggctcaggctctgcttcgTacactggctcttcctccacc	5	11	8	17	1	3	0	1	0	2	0	6	0	5	0	3	3	2	5	3	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:121351340T>C	ENST00000314583.3	-	12	1170	c.1079A>G	c.(1078-1080)tAc>tGc	p.Y360C	HCLS1_ENST00000428394.2_Missense_Mutation_p.Y323C|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	360					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ctcTGCTTCGTACACTGGCTC	0.592													60	168					0	0	0	0	C	121351340	T	C	121351340	3	2	408	1	0	0	0	0	1	0	0	0	7045	1638	57	5	393	5	HCLS1	3	121351340	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1719787	121351340	76671090	781	78599											
ILDR1	286676	broad.mit.edu	37	chr3	121712409	121712409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccactccacgatgggTccaactcccttctttccaat	7	12	5	17	1	1	0	0	0	1	0	6	1	6	0	6	1	1	0	6	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:121712409T>C	ENST00000273691.3	-	6	1160	c.1055A>G	c.(1054-1056)gAc>gGc	p.D352G	ILDR1_ENST00000344209.5_Missense_Mutation_p.D396G|ILDR1_ENST00000393631.1_Missense_Mutation_p.D307G|ILDR1_ENST00000462014.1_Missense_Mutation_p.D364G|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	396						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCACGATGGGTCCAACTCCCT	0.577													26	73					0	0	0	0	C	121712409	T	C	121712409	3	2	408	1	0	0	0	0	1	0	0	0	7762	1667	58	5	461	5	ILDR1	3	121712409	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	361069	121712409	76310021	782	78600											
CASR	846	broad.mit.edu	37	chr3	122003904	122003904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaaacaggtctgcaaggaCctgtgggtggagaccagcgg	11	5	17	8	1	1	1	0	0	1	1	1	4	1	3	2	6	3	1	2	6	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:122003904C>G	ENST00000498619.1	+	7	3571	c.3133C>G	c.(3133-3135)Cct>Gct	p.P1045A	CASR_ENST00000490131.1_Missense_Mutation_p.P1035A|CASR_ENST00000296154.5_Missense_Mutation_p.P1035A	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1035					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCAAGGACCTGTGGGTGG	0.577													28	85					0	0	0	0	G	122003904	C	G	122003904	3	3	408	1	0	0	0	0	1	0	0	0	2707	507	18	4	3155	4	CASR	3	122003904	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	291495	122003904	76018526	783	78601											
HSPBAP1	79663	broad.mit.edu	37	chr3	122487712	122487712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttctacgtaattacatgTagtttcaaactgaggaactg	13	13	8	7	1	2	1	1	1	1	0	2	2	2	2	0	1	5	4	0	1	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:122487712T>C	ENST00000383659.1	-	3	390	c.268A>G	c.(268-270)Aca>Gca	p.T90A	HSPBAP1_ENST00000306103.2_Missense_Mutation_p.T90A|HSPBAP1_ENST00000465044.1_5'UTR			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	90	Interaction with HSPB1 (By similarity).					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TAATTACATGTAGTTTCAAAC	0.318													9	32					0	0	0	0	C	122487712	T	C	122487712	3	2	408	1	0	0	0	0	1	0	0	0	7478	1638	57	5	1222	5	HSPBAP1	3	122487712	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	483808	122487712	75534718	784	78602											
MYLK	4638	broad.mit.edu	37	chr3	123419195	123419195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtctcggcaggcttggcGttgcccattggcttcagggt	4	11	16	10	2	2	0	1	0	1	0	3	0	2	0	1	6	1	4	1	6	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:123419195G>A	ENST00000360772.3	-	19	3498	c.3120C>T	c.(3118-3120)aaC>aaT	p.N1040N	MYLK_ENST00000360304.3_Silent_p.N1040N|MYLK_ENST00000359169.1_Silent_p.N1040N|MYLK_ENST00000346322.5_Silent_p.N971N|MYLK_ENST00000475616.1_Silent_p.N1040N			Q15746	MYLK_HUMAN	myosin light chain kinase	1040	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGCTTGGCGTTGCCCATTG	0.557													90	267					0	0	0	0	A	123419195	G	A	123419195	2	1	408	1	0	0	0	0	0	0	0	1	10126	1136	40	1		1	MYLK	3	123419195	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	931483	123419195	74603235	785	78603											
MYLK	4638	broad.mit.edu	37	chr3	123471338	123471338	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcccccgctggtgatgggTtgcccgtttctgtgccatgt	2	12	14	13	3	1	1	0	1	1	0	1	1	1	1	4	3	2	3	4	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:123471338T>C	ENST00000360772.3	-	6	591	c.213A>G	c.(211-213)caA>caG	p.Q71Q	MYLK_ENST00000359169.1_Silent_p.Q71Q|MYLK_ENST00000360304.3_Silent_p.Q71Q|MYLK_ENST00000346322.5_Silent_p.Q71Q|MYLK_ENST00000475616.1_Silent_p.Q71Q			Q15746	MYLK_HUMAN	myosin light chain kinase	71	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGTGATGGGTTGCCCGTTTC	0.542													17	43					0	0	0	0	C	123471338	T	C	123471338	2	2	408	1	0	0	0	0	0	0	0	1	10126	1722	60	5		5	MYLK	3	123471338	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	52143	123471338	74551092	786	78604											
KALRN	8997	broad.mit.edu	37	chr3	124053293	124053293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcaccgcaaggtgcGgctccaccagcggctgcagc	7	4	14	16	3	0	0	0	0	0	0	1	0	1	0	3	4	5	6	3	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:124053293G>A	ENST00000360013.3	+	9	1719	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	KALRN_ENST00000240874.3_Missense_Mutation_p.R531Q|KALRN_ENST00000460856.1_Missense_Mutation_p.R531Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	531					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGCAAGGTGCGGCTCCACCAG	0.607													20	68					0	0	0	0	A	124053293	G	A	124053293	3	1	408	1	0	0	0	0	1	0	0	0	8028	1116	39	1	1626	1	KALRN	3	124053293	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	581955	124053293	73969137	787	78605											
MUC13	56667	broad.mit.edu	37	chr3	124641065	124641065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctagtaatttcactatgCaagtcttgataggccatgga	13	12	9	7	0	2	1	1	1	1	0	2	2	2	2	1	2	2	3	1	2	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:124641065C>T	ENST00000311075.3	-	4	758	c.720G>A	c.(718-720)ttG>ttA	p.L240L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	240	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TTTCACTATGCAAGTCTTGAT	0.393													14	49					0	0	0	0	T	124641065	C	T	124641065	2	4	408	1	0	0	0	0	0	0	0	1	10041	709	25	4		4	MUC13	3	124641065	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	587772	124641065	73381365	788	78606											
MUC13	56667	broad.mit.edu	37	chr3	124646509	124646509	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccattgtgattaatccAtcatttggagatgaagcggt	12	12	11	6	1	1	3	1	2	0	1	2	5	2	4	2	3	2	0	2	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:124646509A>G	ENST00000311075.3	-	2	419	c.381T>C	c.(379-381)gaT>gaC	p.D127D		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	127	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TGATTAATCCATCATTTGGAG	0.438													75	222					0	0	0	0	G	124646509	A	G	124646509	2	3	408	1	0	0	0	0	0	0	0	1	10041	214	8	5		5	MUC13	3	124646509	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5444	124646509	73375921	789	78607											
OSBPL11	114885	broad.mit.edu	37	chr3	125249420	125249420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatgataaacccagccaTctccctgaaacaaataaaaa	18	9	4	10	0	1	2	0	2	1	0	2	2	1	2	3	0	3	1	3	0	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:125249420T>C	ENST00000296220.5	-	13	2472	c.2183A>G	c.(2182-2184)gAt>gGt	p.D728G		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	728					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AACCCAGCCATCTCCCTGAAA	0.348													9	19					0	0	0	0	C	125249420	T	C	125249420	3	2	408	1	0	0	0	0	1	0	0	0	11347	1435	50	5	64	5	OSBPL11	3	125249420	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	602911	125249420	72773010	790	78608											
OSBPL11	114885	broad.mit.edu	37	chr3	125271230	125271230	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccgataaaggagcatgAtttgtgactccctgggtgga	9	10	12	10	1	0	2	0	2	0	0	2	5	2	4	3	3	1	1	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:125271230A>T	ENST00000296220.5	-	9	1738	c.1449T>A	c.(1447-1449)aaT>aaA	p.N483K		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	483					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AAGGAGCATGATTTGTGACTC	0.468													28	39					0	0	0	0	T	125271230	A	T	125271230	3	4	408	1	0	0	0	0	1	0	0	0	11347	330	12	5	814	5	OSBPL11	3	125271230	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	21810	125271230	72751200	791	78609											
SLC41A3	54946	broad.mit.edu	37	chr3	125741708	125741708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctggctgcaatgggCgtggcaatgttgtctgggtt	5	11	16	9	1	1	0	0	0	1	0	1	0	1	0	1	5	1	6	1	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:125741708C>T	ENST00000383598.2	-	5	873	c.588G>A	c.(586-588)acG>acA	p.T196T	SLC41A3_ENST00000508835.1_Silent_p.T105T|SLC41A3_ENST00000346785.5_Silent_p.T186T|SLC41A3_ENST00000360370.4_Silent_p.T222T|SLC41A3_ENST00000315891.6_Silent_p.T222T	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	222						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CTGCAATGGGCGTGGCAATGT	0.507													74	188					0	0	0	0	T	125741708	C	T	125741708	2	4	408	1	0	0	0	0	0	0	0	1	14719	755	27	1		1	SLC41A3	3	125741708	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	470478	125741708	72280722	792	78610											
CCDC37	348807	broad.mit.edu	37	chr3	126138545	126138545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggatttcctatacaagcTgtcgcccaaggagtggcttg	10	11	11	9	1	0	0	0	0	0	0	2	2	1	2	2	3	2	2	2	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126138545T>C	ENST00000393425.1	+	9	899	c.800T>C	c.(799-801)cTg>cCg	p.L267P	CCDC37_ENST00000505024.1_Missense_Mutation_p.L267P|CCDC37_ENST00000352312.1_Missense_Mutation_p.L266P			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	266										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CTATACAAGCTGTCGCCCAAG	0.493													4	110					0	0	0	0	C	126138545	T	C	126138545	3	2	408	1	0	0	0	0	1	0	0	0	2835	1580	55	5	827	5	CCDC37	3	126138545	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	396837	126138545	71883885	793	78611											
CHST13	166012	broad.mit.edu	37	chr3	126260867	126260867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggccgacttcagccccGccgagatcaaccggcgcctg	7	5	11	18	5	2	1	2	0	0	1	2	3	2	1	6	2	2	0	6	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126260867G>T	ENST00000319340.2	+	3	522	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	158					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTTCAGCCCCGCCGAGATCAA	0.736													8	14					0.000157383	0.00015972	1	0	T	126260867	G	T	126260867	3	4	408	1	0	0	0	0	1	0	0	0	3430	1087	38	3	482	3	CHST13	3	126260867	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	122322	126260867	71761563	794	78612											
PLXNA1	5361	broad.mit.edu	37	chr3	126724000	126724000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccttcgaggacttcaCggaatctgagagcgtcctgg	7	10	12	12	3	2	1	1	1	1	1	5	5	4	3	2	3	2	1	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126724000C>T	ENST00000393409.2	+	6	1811	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T581M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	604					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAGGACTTCACGGAATCTGAG	0.672													14	31					0	0	0	0	T	126724000	C	T	126724000	3	4	408	1	0	0	0	0	1	0	0	0	12191	536	19	1	1833	1	PLXNA1	3	126724000	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	463133	126724000	71298430	795	78613											
PLXNA1	5361	broad.mit.edu	37	chr3	126737183	126737183	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagggacactgcaggtgtActcggacagcctgctgacgc	8	6	14	13	2	0	1	0	1	0	0	1	3	0	3	2	3	4	3	2	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126737183A>G	ENST00000393409.2	+	19	3707	c.3707A>G	c.(3706-3708)tAc>tGc	p.Y1236C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Y1213C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1236	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCAGGTGTACTCGGACAGC	0.637													3	35					0	0	0	0	G	126737183	A	G	126737183	3	3	408	1	0	0	0	0	1	0	0	0	12191	391	14	5	3781	5	PLXNA1	3	126737183	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	13183	126737183	71285247	796	78614											
PLXNA1	5361	broad.mit.edu	37	chr3	126748859	126748859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgagggtgaccgcggCagcaagatggtctcggagat	9	6	17	9	4	1	4	0	2	1	2	2	5	1	4	1	4	2	2	1	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126748859C>T	ENST00000393409.2	+	27	5013	c.5013C>T	c.(5011-5013)ggC>ggT	p.G1671G	PLXNA1_ENST00000251772.4_Silent_p.G1648G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1671					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGACCGCGGCAGCAAGATGG	0.657													5	154					0	0	0	0	T	126748859	C	T	126748859	2	4	408	1	0	0	0	0	0	0	0	1	12191	697	25	4		4	PLXNA1	3	126748859	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	11676	126748859	71273571	797	78615											
PLXNA1	5361	broad.mit.edu	37	chr3	126749132	126749132	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtttgagaccatcttcaGcacggcacaccggggctcag	8	8	11	14	2	3	1	2	1	1	1	3	2	3	1	3	3	1	4	3	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126749132G>C	ENST00000393409.2	+	28	5108	c.5108G>C	c.(5107-5109)aGc>aCc	p.S1703T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1680T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1703					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACCATCTTCAGCACGGCACAC	0.627													43	127					0	0	0	0	C	126749132	G	C	126749132	3	2	408	1	0	0	0	0	1	0	0	0	12191	971	34	4	5218	4	PLXNA1	3	126749132	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	273	126749132	71273298	798	78616											
IFT122	55764	broad.mit.edu	37	chr3	129236439	129236439	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagagattgcaaacaacagTatccatgcccttggccagag	13	8	9	11	0	0	2	0	0	0	2	1	3	1	2	3	1	4	2	3	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:129236439T>C	ENST00000296266.3	+	28	3736		c.e28+2		IFT122_ENST00000348417.2_Splice_Site|IFT122_ENST00000504021.1_Splice_Site|IFT122_ENST00000507564.1_Splice_Site|IFT122_ENST00000349441.2_Splice_Site|IFT122_ENST00000440957.2_Splice_Site|IFT122_ENST00000431818.2_Splice_Site|IFT122_ENST00000347300.2_Splice_Site	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)						camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAAACAACAGTATCCATGCCC	0.602													44	119					0	0	0	0	C	129236439	T	C	129236439	5	2	408	1	0	0	0	0	0	0	1	0	7608	1652	57	5	3659	5	IFT122	3	129236439	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2487307	129236439	68785991	799	78617											
PLXND1	23129	broad.mit.edu	37	chr3	129291683	129291683	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggctgcagcccccccttAccacgtaggagaagcggtcc	7	6	13	15	2	0	1	0	0	0	1	1	2	1	1	5	3	4	3	5	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:129291683A>G	ENST00000393239.1	-	14	3116		c.e14+1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCCCCCCTTACCACGTAGGA	0.687													9	42					0	0	0	0	G	129291683	A	G	129291683	5	3	408	1	0	0	0	0	0	0	1	0	12199	405	14	5	2930	5	PLXND1	3	129291683	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	55244	129291683	68730747	800	78618											
PLXND1	23129	broad.mit.edu	37	chr3	129303359	129303359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtcacaggccatctccAtgccactgaggctgggcagg	9	7	12	13	0	2	1	1	1	1	0	3	1	2	1	3	4	1	2	3	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:129303359A>G	ENST00000393239.1	-	6	2076	c.1898T>C	c.(1897-1899)aTg>aCg	p.M633T	PLXND1_ENST00000324093.4_Missense_Mutation_p.M633T			Q9Y4D7	PLXD1_HUMAN	plexin D1	633					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGCCATCTCCATGCCACTGAG	0.632													5	127					0	0	0	0	G	129303359	A	G	129303359	3	3	408	1	0	0	0	0	1	0	0	0	12199	217	8	5	4003	5	PLXND1	3	129303359	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	11676	129303359	68719071	801	78619											
COL6A6	131873	broad.mit.edu	37	chr3	130381066	130381066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagccaccctttggatcAccacctggtccagcttggcc	6	8	9	18	1	1	0	1	0	0	0	2	1	2	1	7	3	2	1	7	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:130381066A>G	ENST00000358511.6	+	34	6447	c.6416A>G	c.(6415-6417)cAc>cGc	p.H2139R	COL6A6_ENST00000453409.2_Missense_Mutation_p.H2139R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2139	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCTTTGGATCACCACCTGGTC	0.458													44	159					0	0	0	0	G	130381066	A	G	130381066	3	3	408	1	0	0	0	0	1	0	0	0	3733	159	6	5	6550	5	COL6A6	3	130381066	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1077707	130381066	67641364	802	78620											
ASTE1	28990	broad.mit.edu	37	chr3	130744027	130744027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagatccaagtttgaacTgaagcaaagacggtggaaaa	16	6	12	7	2	0	4	0	2	0	2	1	6	1	5	2	3	2	2	2	3	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:130744027T>C	ENST00000264992.3	-	3	565	c.124A>G	c.(124-126)Agt>Ggt	p.S42G	ASTE1_ENST00000514044.1_Missense_Mutation_p.S42G	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	42					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AAGTTTGAACTGAAGCAAAGA	0.373													36	138					0	0	0	0	C	130744027	T	C	130744027	3	2	408	1	0	0	0	0	1	0	0	0	1066	1580	55	5	1931	5	ASTE1	3	130744027	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	362961	130744027	67278403	803	78621											
DNAJC13	23317	broad.mit.edu	37	chr3	132202402	132202402	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatgttgatcacaatgTgtggatattttccaagcagg	12	13	10	6	0	1	2	1	2	0	0	2	3	2	3	1	2	2	2	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:132202402T>C	ENST00000260818.6	+	28	3411	c.3163T>C	c.(3163-3165)Tgt>Cgt	p.C1055R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1055							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GATCACAATGTGTGGATATTT	0.398													32	78					0	0	0	0	C	132202402	T	C	132202402	3	2	408	1	0	0	0	0	1	0	0	0	4668	1696	59	5	3269	5	DNAJC13	3	132202402	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1458375	132202402	65820028	804	78622											
DNAJC13	23317	broad.mit.edu	37	chr3	132209834	132209834	+	Frame_Shift_Del	DEL	T	T	-																															aaaattatgaacctgaaaagTtttctgagatttttctagga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:132209834delT	ENST00000260818.6	+	32	3810	c.3562delT	c.(3562-3564)ttfs	p.F1188fs		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1188							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCTGAAAAGTTTTCTGAGAT	0.323													12	52	---	---	---	---					-	132209834	T	-	132209834	7	5	408	1	0	1	0	1	0	0	0	0	4668	1725	60	0	3684	0	DNAJC13	3	132209834	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	7432	132209834	65812596	805	78623											
ACAD11	84129	broad.mit.edu	37	chr3	132360899	132360899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaacgtaactgagccaatgTttctaccgtggccacatata	12	10	9	10	2	1	1	0	1	1	0	1	2	1	2	3	2	4	2	3	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:132360899T>C	ENST00000264990.6	-	4	1425	c.454A>G	c.(454-456)Aca>Gca	p.T152A	ACAD11_ENST00000355458.3_Missense_Mutation_p.T152A|ACAD11_ENST00000481970.2_Missense_Mutation_p.T152A|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGAGCCAATGTTTCTACCGTG	0.443													33	110					0	0	0	0	C	132360899	T	C	132360899	3	2	408	1	0	0	0	0	1	0	0	0	109	1725	60	5	1956	5	ACAD11	3	132360899	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	151065	132360899	65661531	806	78624											
RYK	6259	broad.mit.edu	37	chr3	133878201	133878201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcatgagttcccacagcGtcactccaaaggcccactag	11	7	9	14	1	2	1	2	1	0	0	4	2	4	1	3	1	1	1	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:133878201G>A	ENST00000427044.2	-	15	1635	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	RYK_ENST00000296084.4_Missense_Mutation_p.T532M			P34925	RYK_HUMAN	receptor-like tyrosine kinase	528	Protein kinase.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TTCCCACAGCGTCACTCCAAA	0.537													10	35					0	0	0	0	A	133878201	G	A	133878201	3	1	408	1	0	0	0	0	1	0	0	0	13852	1145	40	1	239	1	RYK	3	133878201	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1517302	133878201	64144229	807	78625											
KY	339855	broad.mit.edu	37	chr3	134338061	134338061	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccgcaggatgtcagtgggTttgaaggcttggcggtcctt	5	12	16	8	2	1	1	1	1	0	0	3	2	3	2	2	5	0	3	2	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:134338061T>G	ENST00000508956.1	-	7	633	c.576A>C	c.(574-576)aaA>aaC	p.K192N	KY_ENST00000503669.1_Missense_Mutation_p.K213N|KY_ENST00000423778.2_Missense_Mutation_p.K213N|KY_ENST00000508041.1_5'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	213						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGTCAGTGGGTTTGAAGGCTT	0.557													48	92					0	0	0	0	G	134338061	T	G	134338061	3	3	408	1	0	0	0	0	1	0	0	0	8639	1722	60	5	1362	5	KY	3	134338061	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	459860	134338061	63684369	808	78626											
COPB2	9276	broad.mit.edu	37	chr3	139077983	139077983	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattctgctgctttctgatTgacttttgagagattctctc	6	18	9	8	0	3	4	0	3	3	1	5	6	3	5	0	1	2	2	0	1	0	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:139077983T>C	ENST00000333188.5	-	19	2522	c.2341A>G	c.(2341-2343)Aat>Gat	p.N781D	COPB2_ENST00000507777.1_Missense_Mutation_p.N752D	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	781					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCTTTCTGATTGACTTTTGAG	0.398													21	83					0	0	0	0	C	139077983	T	C	139077983	3	2	408	1	0	0	0	0	1	0	0	0	3759	1812	63	5	395	5	COPB2	3	139077983	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4739922	139077983	58944447	809	78627											
COPB2	9276	broad.mit.edu	37	chr3	139096923	139096923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcactggcaaactgattgTtatctttggggttgatcaca	10	13	11	7	0	2	2	1	2	1	0	2	2	2	2	0	4	1	4	0	4	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:139096923T>C	ENST00000333188.5	-	5	645	c.464A>G	c.(463-465)aAc>aGc	p.N155S	COPB2_ENST00000507777.1_Missense_Mutation_p.N126S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	155					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AAACTGATTGTTATCTTTGGG	0.408													51	149					0	0	0	0	C	139096923	T	C	139096923	3	2	408	1	0	0	0	0	1	0	0	0	3759	1725	60	5	2328	5	COPB2	3	139096923	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	18940	139096923	58925507	810	78628											
CLSTN2	64084	broad.mit.edu	37	chr3	140282029	140282029	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctgagtcccggagtagCatccagcacagttcaggtag	10	8	11	12	1	1	1	1	1	0	0	4	2	4	2	3	2	2	5	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:140282029C>T	ENST00000458420.3	+	15	2656	c.2466C>T	c.(2464-2466)agC>agT	p.S822S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	822					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCGGAGTAGCATCCAGCACA	0.502										HNSCC(16;0.037)			17	102					0	0	0	0	T	140282029	C	T	140282029	2	4	408	1	0	0	0	0	0	0	0	1	3592	709	25	4		4	CLSTN2	3	140282029	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1185106	140282029	57740401	811	78629											
TRIM42	287015	broad.mit.edu	37	chr3	140407245	140407245	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagacggcctctacacctActggagtgctggagcagaca	11	6	11	13	1	1	2	0	0	1	2	1	4	1	4	2	3	4	2	2	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:140407245A>G	ENST00000286349.3	+	3	1912	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	574						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTCTACACCTACTGGAGTGCT	0.577													8	167					0	0	0	0	G	140407245	A	G	140407245	3	3	408	1	0	0	0	0	1	0	0	0	16612	391	14	5	1731	5	TRIM42	3	140407245	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	125216	140407245	57615185	812	78630											
ATP1B3	483	broad.mit.edu	37	chr3	141622465	141622465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattttcttttacaggttTgatcttgctcttctacctag	6	22	5	8	0	4	1	0	1	4	0	4	1	4	1	1	1	3	2	1	1	4	11			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:141622465T>C	ENST00000539728.1	+	3	364	c.71T>C	c.(70-72)tTg>tCg	p.L24S	ATP1B3_ENST00000462082.1_5'UTR|ATP1B3_ENST00000286371.3_Missense_Mutation_p.L38S			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	38					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						TTTACAGGTTTGATCTTGCTC	0.408													15	49					0	0	0	0	C	141622465	T	C	141622465	3	2	408	1	0	0	0	0	1	0	0	0	1138	1821	63	5	119	5	ATP1B3	3	141622465	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1215220	141622465	56399965	813	78631											
PAQR9	344838	broad.mit.edu	37	chr3	142681980	142681980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcactcctgggccgtgcacgGcagacgccggtagcccgaca	7	4	14	16	5	0	1	0	0	0	1	1	2	1	1	4	3	2	4	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:142681980G>A	ENST00000340634.3	-	1	198	c.199C>T	c.(199-201)Ccg>Tcg	p.P67S	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	67						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCCGTGCACGGCAGACGCCGG	0.657													12	21					0	0	0	0	A	142681980	G	A	142681980	3	1	408	1	0	0	0	0	1	0	0	0	11513	1203	42	4	938	4	PAQR9	3	142681980	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1059515	142681980	55340450	814	78632											
CHST2	9435	broad.mit.edu	37	chr3	142840276	142840276	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatggcaaaaactgtatccGggggacgccgtttccctgca	9	9	12	11	3	0	0	0	0	0	0	2	1	2	1	3	3	2	5	3	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:142840276G>C	ENST00000309575.3	+	2	2002	c.618G>C	c.(616-618)ccG>ccC	p.P206P		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	206					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AACTGTATCCGGGGGACGCCG	0.602													50	126					0	0	0	0	C	142840276	G	C	142840276	2	2	408	1	0	0	0	0	0	0	0	1	3433	1103	39	3		3	CHST2	3	142840276	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	158296	142840276	55182154	815	78633											
SLC9A9	285195	broad.mit.edu	37	chr3	143185939	143185939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatacccagacagtgaagAacacgaggagcagcgtagtg	16	4	12	9	2	0	3	0	1	0	2	0	5	0	4	1	1	4	2	1	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:143185939A>G	ENST00000316549.6	-	12	1617	c.1409T>C	c.(1408-1410)tTc>tCc	p.F470S		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	470					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GACAGTGAAGAACACGAGGAG	0.483													8	41					0	0	0	0	G	143185939	A	G	143185939	3	3	408	1	0	0	0	0	1	0	0	0	14809	246	9	5	548	5	SLC9A9	3	143185939	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	345663	143185939	54836491	816	78634											
SLC9A9	285195	broad.mit.edu	37	chr3	143185960	143185960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacgaggagcagcgtagtgGtaaacatcatttgtttgggc	11	10	13	7	2	1	0	1	0	0	0	1	2	1	1	0	3	3	4	0	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:143185960G>A	ENST00000316549.6	-	12	1596	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	463					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CAGCGTAGTGGTAAACATCAT	0.478													18	39					0	0	0	0	A	143185960	G	A	143185960	3	1	408	1	0	0	0	0	1	0	0	0	14809	1261	44	4	569	4	SLC9A9	3	143185960	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	21	143185960	54836470	817	78635											
ZIC1	7545	broad.mit.edu	37	chr3	147128060	147128060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcaaccccagttcgcAcgagctggcttcggccggcc	7	6	11	17	4	1	0	1	0	0	0	3	1	1	0	4	3	3	5	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:147128060A>G	ENST00000282928.4	+	1	890	c.161A>G	c.(160-162)cAc>cGc	p.H54R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	54					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCCAGTTCGCACGAGCTGGCT	0.721													26	62					0	0	0	0	G	147128060	A	G	147128060	3	3	408	1	0	0	0	0	1	0	0	0	17773	159	6	5	163	5	ZIC1	3	147128060	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3942100	147128060	50894370	818	78636											
COMMD2	51122	broad.mit.edu	37	chr3	149470050	149470050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtctcaggaattccacaGcaatccgcccaaactcggcg	10	6	9	16	5	1	0	1	0	1	0	5	1	3	1	3	2	2	1	3	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:149470050G>A	ENST00000473414.1	-	2	146	c.92C>T	c.(91-93)gCt>gTt	p.A31V		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	31							protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAATTCCACAGCAATCCGCCC	0.602													9	168					0	0	0	0	A	149470050	G	A	149470050	3	1	408	1	0	0	0	0	1	0	0	0	3746	971	34	4	523	4	COMMD2	3	149470050	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2341990	149470050	48552380	819	78637											
EIF2A	83939	broad.mit.edu	37	chr3	150290239	150290239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcagttccaagtgaagtaCccaatgaggaacctaaagtt	16	8	9	8	0	0	2	0	2	0	0	1	3	1	3	3	1	3	4	3	1	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:150290239C>T	ENST00000460851.1	+	10	1415	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S	EIF2A_ENST00000487799.1_Missense_Mutation_p.P411S|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.P222S|EIF2A_ENST00000273435.5_Missense_Mutation_p.P431S|EIF2A_ENST00000406576.3_Missense_Mutation_p.P375S|SERP1_ENST00000479209.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	436					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAGTGAAGTACCCAATGAGGA	0.373													9	150					0	0	0	0	T	150290239	C	T	150290239	3	4	408	1	0	0	0	0	1	0	0	0	5031	507	18	4	1344	4	EIF2A	3	150290239	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	820189	150290239	47732191	820	78638											
AADAC	13	broad.mit.edu	37	chr3	151531957	151531957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgggacgttcaccatgggaAgaaaatcgctgtaccttctg	10	9	12	10	3	2	1	1	0	1	1	3	3	2	3	2	2	1	3	2	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:151531957A>G	ENST00000232892.6	+	1	133	c.7A>G	c.(7-9)Aga>Gga	p.R3G	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.R3G	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	3				R -> M (in Ref. 6; AA sequence).	positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACCATGGGAAGAAAATCGCT	0.428													43	106					0	0	0	0	G	151531957	A	G	151531957	3	3	408	1	0	0	0	0	1	0	0	0	10	64	3	5	9	5	AADAC	3	151531957	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1241718	151531957	46490473	821	78639											
PLCH1	23007	broad.mit.edu	37	chr3	155199125	155199125	+	Frame_Shift_Del	DEL	G	G	-																															caacttcctgaccagtgcccGggggagctgattggcatcct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:155199125delG	ENST00000460012.1	-	23	4957	c.4600delC	c.(4600-4602)ggfs	p.R1534fs	PLCH1_ENST00000414191.1_Frame_Shift_Del_p.R1534fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.R1572fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.R1534fs|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1572					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCAGTGCCCGGGGGAGCTGA	0.512													20	92	---	---	---	---					-	155199125	G	-	155199125	7	5	408	1	0	1	0	1	0	0	0	0	12109	1115	39	0	371	0	PLCH1	3	155199125	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	3667168	155199125	42823305	822	78640											
PLCH1	23007	broad.mit.edu	37	chr3	155206586	155206586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtttcttcccacacaGggttaaatcctcagagaaat	12	12	7	10	0	3	1	2	0	1	1	5	2	5	1	2	1	0	2	2	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:155206586G>A	ENST00000460012.1	-	20	2669	c.2312C>T	c.(2311-2313)cCt>cTt	p.P771L	PLCH1_ENST00000494598.1_Missense_Mutation_p.P789L|PLCH1_ENST00000447496.2_Missense_Mutation_p.P789L|PLCH1_ENST00000340059.7_Missense_Mutation_p.P789L|PLCH1_ENST00000414191.1_Missense_Mutation_p.P771L|PLCH1_ENST00000334686.6_Missense_Mutation_p.P771L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	789	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCCCACACAGGGTTAAATCC	0.423													7	54					0	0	0	0	A	155206586	G	A	155206586	3	1	408	1	0	0	0	0	1	0	0	0	12109	1000	35	4	2750	4	PLCH1	3	155206586	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	7461	155206586	42815844	823	78641											
GMPS	8833	broad.mit.edu	37	chr3	155632272	155632272	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatatcagatgaagatagAaccccacggaaaagaattag	19	6	8	8	1	1	5	1	1	0	4	1	6	1	6	3	1	1	0	3	1	9	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:155632272A>G	ENST00000496455.1	+	8	1286	c.951A>G	c.(949-951)agA>agG	p.R317R	GMPS_ENST00000295920.7_Silent_p.R218R	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	317					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGAAGATAGAACCCCACGGA	0.363			T	MLL	AML								31	73					0	0	0	0	G	155632272	A	G	155632272	2	3	408	1	0	0	0	0	0	0	0	1	6549	243	9	5		5	GMPS	3	155632272	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	425686	155632272	42390158	824	78642											
GMPS	8833	broad.mit.edu	37	chr3	155654227	155654227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgccagagatctgtggtTattcgaacctttattactag	10	15	8	8	1	2	1	1	0	1	1	3	3	2	1	2	1	3	1	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:155654227T>C	ENST00000496455.1	+	15	2243	c.1908T>C	c.(1906-1908)gtT>gtC	p.V636V	GMPS_ENST00000295920.7_Silent_p.V537V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	636					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATCTGTGGTTATTCGAACCT	0.418			T	MLL	AML								19	150					0	0	0	0	C	155654227	T	C	155654227	2	2	408	1	0	0	0	0	0	0	0	1	6549	1741	61	5		5	GMPS	3	155654227	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	21955	155654227	42368203	825	78643											
SI	6476	broad.mit.edu	37	chr3	164697201	164697201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtaacattgtgtgtggtCagatcaatacgtaatatcta	14	13	9	5	1	3	2	2	0	1	2	3	2	3	2	0	1	2	2	0	1	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:164697201C>T	ENST00000264382.3	-	48	5495	c.5433G>A	c.(5431-5433)ctG>ctA	p.L1811L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1811	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTGTGTGGTCAGATCAATAC	0.284										HNSCC(35;0.089)			8	71					0	0	0	0	T	164697201	C	T	164697201	2	4	408	1	0	0	0	0	0	0	0	1	14385	813	29	2		2	SI	3	164697201	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	9042974	164697201	33325229	826	78644											
PDCD10	11235	broad.mit.edu	37	chr3	167405034	167405034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacttacttgccatctttaAaatacgttttcagagtatca	12	16	5	8	1	3	1	2	0	1	1	3	1	3	1	1	0	4	3	1	0	6	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:167405034A>G	ENST00000392750.2	-	8	962	c.545T>C	c.(544-546)tTt>tCt	p.F182S	PDCD10_ENST00000471885.1_Missense_Mutation_p.F182S|PDCD10_ENST00000461494.1_Missense_Mutation_p.F182S|PDCD10_ENST00000473645.2_Missense_Mutation_p.F182S|PDCD10_ENST00000492396.1_Missense_Mutation_p.F119S|PDCD10_ENST00000497056.2_Missense_Mutation_p.F182S|PDCD10_ENST00000487947.2_Missense_Mutation_p.F182S|PDCD10_ENST00000470131.1_Missense_Mutation_p.F182S	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	182					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GCCATCTTTAAAATACGTTTT	0.264													16	35					0	0	0	0	G	167405034	A	G	167405034	3	3	408	1	0	0	0	0	1	0	0	0	11687	14	1	5	101	5	PDCD10	3	167405034	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2707833	167405034	30617396	827	78645											
CLDN11	5010	broad.mit.edu	37	chr3	170150423	170150423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattggtgctgtgctgtGcctcgtgggtggctgtgtca	2	14	17	8	1	1	0	1	0	0	0	2	1	1	1	1	4	3	3	1	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:170150423G>A	ENST00000064724.3	+	3	705	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	168					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTGTGCTGTGCCTCGTGGGT	0.587													37	111					0	0	0	0	A	170150423	G	A	170150423	3	1	408	1	0	0	0	0	1	0	0	0	3503	1319	46	4	513	4	CLDN11	3	170150423	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2745389	170150423	27872007	828	78646											
TNIK	23043	broad.mit.edu	37	chr3	170802065	170802065	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaccgaaatctttcttgcTtcattgagtttggcctgttc	7	16	7	11	1	3	1	1	1	2	0	4	2	3	1	3	1	1	3	3	1	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:170802065T>C	ENST00000436636.2	-	26	3392	c.3048A>G	c.(3046-3048)gaA>gaG	p.E1016E	TNIK_ENST00000369326.5_Silent_p.E994E|TNIK_ENST00000284483.8_Silent_p.E1008E|TNIK_ENST00000475336.1_Silent_p.E924E|TNIK_ENST00000470834.1_Silent_p.E979E|TNIK_ENST00000460047.1_Silent_p.E953E|TNIK_ENST00000538048.1_Silent_p.E968E|TNIK_ENST00000488470.1_Silent_p.E961E|TNIK_ENST00000341852.6_Silent_p.E932E|TNIK_ENST00000357327.5_Silent_p.E987E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1016	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTTTCTTGCTTCATTGAGTT	0.378													40	99					0	0	0	0	C	170802065	T	C	170802065	2	2	408	1	0	0	0	0	0	0	0	1	16407	1606	56	5		5	TNIK	3	170802065	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	651642	170802065	27220365	829	78647											
PLD1	5337	broad.mit.edu	37	chr3	171405176	171405176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactggaggtgctgtcaaTgctgctgatgctatctgcgt	6	14	12	9	1	2	1	1	1	1	0	2	2	2	2	0	2	6	4	0	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:171405176T>C	ENST00000356327.5	-	15	1808	c.1738A>G	c.(1738-1740)Att>Gtt	p.I580V	PLD1_ENST00000351298.4_Missense_Mutation_p.I580V|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.I580V	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	580	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCTGTCAATGCTGCTGATG	0.433													27	68					0	0	0	0	C	171405176	T	C	171405176	3	2	408	1	0	0	0	0	1	0	0	0	12117	1464	51	5	1538	5	PLD1	3	171405176	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	603111	171405176	26617254	830	78648											
PLD1	5337	broad.mit.edu	37	chr3	171406539	171406539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagtctgtgctcattgTcgtcccaccttccataggcc	5	13	9	14	1	2	1	1	1	1	0	5	1	4	1	4	1	1	1	4	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:171406539T>C	ENST00000356327.5	-	14	1536	c.1466A>G	c.(1465-1467)gAc>gGc	p.D489G	PLD1_ENST00000351298.4_Missense_Mutation_p.D489G|PLD1_ENST00000342215.6_Missense_Mutation_p.D489G|PLD1_ENST00000340989.4_Missense_Mutation_p.D489G	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	489	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCTCATTGTCGTCCCACCT	0.512													32	92					0	0	0	0	C	171406539	T	C	171406539	3	2	408	1	0	0	0	0	1	0	0	0	12117	1667	58	5	1814	5	PLD1	3	171406539	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1363	171406539	26615891	831	78649											
ECT2	1894	broad.mit.edu	37	chr3	172482230	172482230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcagctgagcattccCtttccatagggtcactccta	8	11	7	15	0	2	1	2	1	0	0	5	1	5	1	4	1	2	2	4	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:172482230C>A	ENST00000417960.1	+	12	1612	c.1135C>A	c.(1135-1137)Ctt>Att	p.L379I	ECT2_ENST00000427830.1_Missense_Mutation_p.L380I|ECT2_ENST00000392692.3_Missense_Mutation_p.L411I|ECT2_ENST00000540509.1_Missense_Mutation_p.L411I|ECT2_ENST00000441497.2_Missense_Mutation_p.L380I|ECT2_ENST00000232458.5_Missense_Mutation_p.L380I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	380					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGAGCATTCCCTTTCCATAGG	0.433													4	118					0.014758	0.0148535	1	0	A	172482230	C	A	172482230	3	1	408	1	0	0	0	0	1	0	0	0	4937	681	24	4	1176	4	ECT2	3	172482230	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1075691	172482230	25540200	832	78650											
SPATA16	83893	broad.mit.edu	37	chr3	172631485	172631485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacacacgttcattattgTttcttcttccttcaagggtg	7	17	6	11	1	4	0	2	0	2	0	6	0	6	0	2	1	0	2	2	1	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:172631485T>C	ENST00000351008.3	-	10	1736	c.1553A>G	c.(1552-1554)aAc>aGc	p.N518S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	518					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCATTATTGTTTCTTCTTCC	0.363													3	31					0	0	0	0	C	172631485	T	C	172631485	3	2	408	1	0	0	0	0	1	0	0	0	15091	1725	60	5	164	5	SPATA16	3	172631485	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	149255	172631485	25390945	833	78651											
NLGN1	22871	broad.mit.edu	37	chr3	173525572	173525573	+	Frame_Shift_Ins	INS	-	-	T																															gatggaagtgtcttggcaagINSttatggcaatgtgatcgtca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:173525572_173525573insT	ENST00000457714.1	+	4	1025_1026	c.596_597insT	c.(595-597)atafs	p.I199fs	NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.I239fs|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.I199fs|NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.I199fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	216					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCTTGGCAAGTTATGGCAATG	0.426													19	91	---	---	---	---					T	173525573	-	T	173525572	7	5	408	1	0	1	1	0	0	0	0	0	10531	1029	36	0	602	0	NLGN1	3	173525572	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	894087	173525572	24496858	834	78652											
TBL1XR1	79718	broad.mit.edu	37	chr3	176752112	176752112	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttgtttcatactccatAtctaaacaaaaaagaaaaat	18	13	3	7	0	3	1	1	0	2	1	4	1	4	1	1	0	2	1	1	0	9	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:176752112A>T	ENST00000430069.1	-	13	1383	c.1122_splice	c.e13-1	p.I375_splice	TBL1XR1_ENST00000457928.2_Splice_Site_p.I375_splice			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	375					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CATACTCCATATCTAAACAAA	0.259													7	19					0	0	0	0	T	176752112	A	T	176752112	5	4	408	1	0	0	0	0	0	0	1	0	15734	463	16	5	436	5	TBL1XR1	3	176752112	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3226540	176752112	21270318	835	78653											
KCNMB2	10242	broad.mit.edu	37	chr3	178543536	178543536	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcacactcctgcgctcaTacatgcagaggtaataccac	13	8	7	13	1	2	1	2	0	0	1	3	2	3	1	2	1	4	3	2	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:178543536T>A	ENST00000432997.1	+	3	569	c.217T>A	c.(217-219)Tac>Aac	p.Y73N	RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.Y73N|KCNMB2_ENST00000420517.2_Missense_Mutation_p.Y73N|KCNMB2_ENST00000452583.1_Missense_Mutation_p.Y73N|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	73					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			CCTGCGCTCATACATGCAGAG	0.532													47	171					0	0	0	0	A	178543536	T	A	178543536	3	1	408	1	0	0	0	0	1	0	0	0	8128	1406	49	5	223	5	KCNMB2	3	178543536	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1791424	178543536	19478894	836	78654											
PIK3CA	5290	broad.mit.edu	37	chr3	178942528	178942528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctctgcaaaaaggccaCtgtggttgaattgggagaac	11	10	12	8	0	1	2	0	1	1	1	2	3	2	2	2	3	2	2	2	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:178942528C>T	ENST00000263967.3	+	16	2492	c.2335C>T	c.(2335-2337)Ctg>Ttg	p.L779L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	779					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAAAAGGCCACTGTGGTTGAA	0.353		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	92					0	0	0	0	T	178942528	C	T	178942528	2	4	408	1	0	0	0	0	0	0	0	1	11985	564	20	4		4	PIK3CA	3	178942528	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	398992	178942528	19079902	837	78655											
MFN1	55669	broad.mit.edu	37	chr3	179080157	179080157	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctttagacagttaatcaActggcccatgcccttcacat	10	12	6	13	0	2	1	2	0	0	1	2	1	2	1	2	1	3	2	2	1	3	4	rs149335403	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:179080157A>G	ENST00000471841.1	+	5	549	c.423A>G	c.(421-423)caA>caG	p.Q141Q	MFN1_ENST00000263969.5_Silent_p.Q141Q|MFN1_ENST00000280653.7_Silent_p.Q141Q	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	141					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CAGTTAATCAACTGGCCCATG	0.363													17	69					0	0	0	0	G	179080157	A	G	179080157	2	3	408	1	0	0	0	0	0	0	0	1	9592	40	2	5		5	MFN1	3	179080157	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	137629	179080157	18942273	838	78656											
MRPL47	57129	broad.mit.edu	37	chr3	179310503	179310503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttatttaggtgccaaggTataacccactgcttgaactt	10	15	7	9	0	0	1	0	1	0	0	0	1	0	1	2	2	4	2	2	2	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:179310503T>C	ENST00000476781.1	-	6	587	c.558A>G	c.(556-558)atA>atG	p.I186M	MRPL47_ENST00000259038.2_Missense_Mutation_p.I166M|MRPL47_ENST00000392659.2_Missense_Mutation_p.I76M	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	186					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GGTGCCAAGGTATAACCCACT	0.343													8	27					0	0	0	0	C	179310503	T	C	179310503	3	2	408	1	0	0	0	0	1	0	0	0	9881	1628	57	5	202	5	MRPL47	3	179310503	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	230346	179310503	18711927	839	78657											
ATP11B	23200	broad.mit.edu	37	chr3	182631660	182631660	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgcagcttactgaaacAaatgcaggtatcaagtgctt	12	10	8	11	1	1	1	1	1	0	0	2	1	2	1	1	1	5	5	1	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:182631660A>G	ENST00000323116.5	+	29	3590	c.3330A>G	c.(3328-3330)acA>acG	p.T1110T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1110					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTACTGAAACAAATGCAGGTA	0.423													133	350					0	0	0	0	G	182631660	A	G	182631660	2	3	408	1	0	0	0	0	0	0	0	1	1124	117	5	5		5	ATP11B	3	182631660	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3321157	182631660	15390770	840	78658											
YEATS2	55689	broad.mit.edu	37	chr3	183521949	183521949	+	Frame_Shift_Del	DEL	G	G	-																															acggggactccatcgaggacGtgctgacccagatcgacagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183521949delG	ENST00000305135.5	+	27	3952	c.3757delG	c.(3757-3759)tgfs	p.V1253fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1253					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.V1253M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCGAGGACGTGCTGACCCA	0.612													42	147	---	---	---	---					-	183521949	G	-	183521949	7	5	408	1	0	1	0	1	0	0	0	0	17568	1145	40	0	3859	0	YEATS2	3	183521949	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	890289	183521949	14500481	841	78659											
PARL	55486	broad.mit.edu	37	chr3	183584466	183584466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgctatccaaccaatcagCttttataccatcaaaataac	16	12	2	11	0	2	0	2	0	0	0	3	0	3	0	3	0	5	2	3	0	9	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183584466C>T	ENST00000317096.4	-	3	469	c.409G>A	c.(409-411)Gct>Act	p.A137T	PARL_ENST00000435888.1_Missense_Mutation_p.A137T|PARL_ENST00000311101.5_Missense_Mutation_p.A137T	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	137			A -> G (in dbSNP:rs4912470).		proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AACCAATCAGCTTTTATACCA	0.353													17	75					0	0	0	0	T	183584466	C	T	183584466	3	4	408	1	0	0	0	0	1	0	0	0	11522	797	28	4	762	4	PARL	3	183584466	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	62517	183584466	14437964	842	78660											
PARL	55486	broad.mit.edu	37	chr3	183585695	183585695	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgagactccttataggAtagggagaaggataaaagac	16	10	11	4	0	0	3	0	1	0	3	1	7	1	5	1	3	0	0	1	3	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183585695A>G	ENST00000317096.4	-	2	339	c.279T>C	c.(277-279)taT>taC	p.Y93Y	PARL_ENST00000435888.1_Silent_p.Y93Y|PARL_ENST00000311101.5_Silent_p.Y93Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	93					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCTTATAGGATAGGGAGAAG	0.413													14	119					0	0	0	0	G	183585695	A	G	183585695	2	3	408	1	0	0	0	0	0	0	0	1	11522	340	12	5		5	PARL	3	183585695	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1229	183585695	14436735	843	78661											
HTR3C	170572	broad.mit.edu	37	chr3	183774697	183774697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgccttccggtctcactGcctatatcagcagtgaaggt	9	10	10	12	2	2	2	2	1	1	1	4	2	3	2	3	2	2	1	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183774697G>A	ENST00000318351.1	+	5	458	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	142						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CGGTCTCACTGCCTATATCAG	0.493													33	121					0	0	0	0	A	183774697	G	A	183774697	3	1	408	1	0	0	0	0	1	0	0	0	7499	1319	46	4	442	4	HTR3C	3	183774697	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	189002	183774697	14247733	844	78662											
DVL3	1857	broad.mit.edu	37	chr3	183884283	183884283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatgacgatgcagtccgggTactgcgggagattgtgcaca	10	9	14	8	3	0	2	0	1	0	1	1	4	1	2	1	2	4	3	1	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183884283T>C	ENST00000313143.3	+	9	1201	c.953T>C	c.(952-954)gTa>gCa	p.V318A	DVL3_ENST00000431765.1_Missense_Mutation_p.V318A|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	318	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCAGTCCGGGTACTGCGGGAG	0.537													56	138					0	0	0	0	C	183884283	T	C	183884283	3	2	408	1	0	0	0	0	1	0	0	0	4873	1638	57	5	987	5	DVL3	3	183884283	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	109586	183884283	14138147	845	78663											
ECE2	9718	broad.mit.edu	37	chr3	183967525	183967525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcgcctccggagttaccgGagcggaactgcgggtaccgc	6	5	17	13	6	0	0	0	0	0	0	1	3	1	3	4	5	5	2	4	5	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183967525G>A	ENST00000402825.3	+	1	43	c.43G>A	c.(43-45)Gag>Aag	p.E15K	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.E15K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	15	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGTTACCGGAGCGGAACTG	0.652											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	43					0	0	0	0	A	183967525	G	A	183967525	3	1	408	1	0	0	0	0	1	0	0	0	4926	1175	41	2	45	2	ECE2	3	183967525	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	83242	183967525	14054905	846	78664											
EIF4G1	1981	broad.mit.edu	37	chr3	184038716	184038716	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctttgtgtcctgcagaCgggaggcggtctggagcctc	6	9	14	12	2	1	1	0	0	1	1	3	3	2	3	3	4	3	1	3	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:184038716C>T	ENST00000342981.4	+	8	1046	c.630_splice	c.e8-1	p.T211_splice	EIF4G1_ENST00000427845.1_Splice_Site_p.T124_splice|EIF4G1_ENST00000352767.3_Splice_Site_p.T218_splice|EIF4G1_ENST00000382330.3_Splice_Site_p.T218_splice|EIF4G1_ENST00000392537.2_Splice_Site_p.T124_splice|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Splice_Site_p.T47_splice|EIF4G1_ENST00000414031.1_Splice_Site_p.T171_splice|EIF4G1_ENST00000411531.1_Splice_Site_p.T171_splice|EIF4G1_ENST00000346169.2_Splice_Site_p.T211_splice|EIF4G1_ENST00000435046.2_Splice_Site_p.T15_splice|EIF4G1_ENST00000434061.2_Splice_Site_p.T15_splice|EIF4G1_ENST00000424196.1_Splice_Site_p.T218_splice|EIF4G1_ENST00000441154.1_Splice_Site_p.T47_splice|EIF4G1_ENST00000319274.6_Splice_Site_p.T211_splice	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	211					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCCTGCAGACGGGAGGCGGT	0.532													13	32					0	0	0	0	T	184038716	C	T	184038716	5	4	408	1	0	0	0	0	0	0	1	0	5074	550	19	1	658	1	EIF4G1	3	184038716	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	71191	184038716	13983714	847	78665											
CLCN2	1181	broad.mit.edu	37	chr3	184072050	184072050	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcctgtgagctcgaacacGatcacagccgtggacactgt	9	8	12	12	3	1	1	1	1	0	0	2	4	1	2	2	2	3	1	2	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:184072050G>A	ENST00000265593.4	-	15	1731	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Silent_p.I503I|CLCN2_ENST00000457512.1_Silent_p.I520I|CLCN2_ENST00000434054.2_Silent_p.I476I|CLCN2_ENST00000423355.2_3'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	520						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTCGAACACGATCACAGCCG	0.627											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	33					0	0	0	0	A	184072050	G	A	184072050	2	1	408	1	0	0	0	0	0	0	0	1	3493	1048	37	1		1	CLCN2	3	184072050	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	33334	184072050	13950380	848	78666											
CHRD	8646	broad.mit.edu	37	chr3	184105783	184105783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctgtgcccagcctgTgcgtgtcaaccccaccgact	5	8	11	17	2	1	0	1	0	0	0	1	1	1	0	6	1	4	1	6	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:184105783T>C	ENST00000204604.1	+	20	2762	c.2516T>C	c.(2515-2517)gTg>gCg	p.V839A	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V799A|CHRD_ENST00000545352.1_Missense_Mutation_p.V381A|CHRD_ENST00000450923.1_Missense_Mutation_p.V839A	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	839	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCAGCCTGTGCGTGTCAAC	0.617													11	35					0	0	0	0	C	184105783	T	C	184105783	3	2	408	1	0	0	0	0	1	0	0	0	3401	1696	59	5	2594	5	CHRD	3	184105783	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	33733	184105783	13916647	849	78667											
EPHB3	2049	broad.mit.edu	37	chr3	184297495	184297495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatttggggaagtgtgcCgtggtcgactgaaacagcct	9	9	16	7	2	0	1	0	1	0	0	1	4	0	3	2	4	3	0	2	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:184297495C>T	ENST00000330394.2	+	11	2397	c.1945C>T	c.(1945-1947)Cgt>Tgt	p.R649C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	649	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGAAGTGTGCCGTGGTCGACT	0.612													16	56					0	0	0	0	T	184297495	C	T	184297495	3	4	408	1	0	0	0	0	1	0	0	0	5214	652	23	1	1987	1	EPHB3	3	184297495	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	191712	184297495	13724935	850	78668											
TRA2B	6434	broad.mit.edu	37	chr3	185636151	185636151	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatattaagataaaaacttAcgaggtgagtatgatcgaga	17	11	9	4	2	1	4	1	2	0	2	2	6	1	4	0	1	2	1	0	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:185636151A>G	ENST00000453386.2	-	8	1132		c.e8+1		TRA2B_ENST00000382191.4_Splice_Site	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)						nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATAAAAACTTACGAGGTGAGT	0.373													22	71					0	0	0	0	G	185636151	A	G	185636151	5	3	408	1	0	0	0	0	0	0	1	0	16529	405	14	5	16	5	TRA2B	3	185636151	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1338656	185636151	12386279	851	78669											
DGKG	1608	broad.mit.edu	37	chr3	185986616	185986616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcaccacacgcagtgccGcgcggtgacactctggtagc	7	5	13	16	5	1	1	0	1	1	0	1	1	1	1	3	3	2	3	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:185986616G>A	ENST00000265022.3	-	12	1629	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.R364W	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	364					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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACGCAGTGCCGCGCGGTGACA	0.607													6	33					0	0	0	0	A	185986616	G	A	185986616	3	1	408	1	0	0	0	0	1	0	0	0	4506	1086	38	1	1341	1	DGKG	3	185986616	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	350465	185986616	12035814	852	78670											
ST6GAL1	6480	broad.mit.edu	37	chr3	186761056	186761056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtgctgttgtgtcgTcagcgggatctctgaagtcc	5	12	15	9	2	2	1	1	1	1	0	5	2	3	2	1	2	2	3	1	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:186761056T>C	ENST00000169298.3	+	4	1239	c.565T>C	c.(565-567)Tca>Cca	p.S189P	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.S189P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	189					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGTTGTGTCGTCAGCGGGATC	0.522													33	142					0	0	0	0	C	186761056	T	C	186761056	3	2	408	1	0	0	0	0	1	0	0	0	15311	1667	58	5	567	5	ST6GAL1	3	186761056	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	774440	186761056	11261374	853	78671											
MASP1	5648	broad.mit.edu	37	chr3	186944294	186944294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagtgtgcggcggtcaCgatccagctggagcctgggg	6	6	19	10	3	1	0	1	0	0	0	2	3	2	1	2	6	3	2	2	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:186944294C>T	ENST00000337774.5	-	12	1845	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	486	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCGGCGGTCACGATCCAGCTG	0.567													3	14					0	0	0	0	T	186944294	C	T	186944294	3	4	408	1	0	0	0	0	1	0	0	0	9391	536	19	1	663	1	MASP1	3	186944294	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	183238	186944294	11078136	854	78672											
BCL6	604	broad.mit.edu	37	chr3	187447147	187447147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcaggcattcttactgCtgcaggactctgtgggcgag	7	10	15	9	1	2	0	0	0	2	0	2	3	2	2	0	4	4	4	0	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:187447147C>T	ENST00000406870.2	-	5	1412	c.1046G>A	c.(1045-1047)aGc>aAc	p.S349N	BCL6_ENST00000232014.4_Missense_Mutation_p.S349N|BCL6_ENST00000450123.2_Missense_Mutation_p.S349N|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	349					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ATTCTTACTGCTGCAGGACTC	0.582			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								64	280					0	0	0	0	T	187447147	C	T	187447147	3	4	408	1	0	0	0	0	1	0	0	0	1380	797	28	4	1098	4	BCL6	3	187447147	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	502853	187447147	10575283	855	78673											
CLDN16	10686	broad.mit.edu	37	chr3	190106202	190106202	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggccacctggactgactgTtggatggtgaatgctgatga	8	11	15	7	0	0	4	0	4	0	0	0	6	0	6	2	4	1	2	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:190106202T>C	ENST00000264734.2	+	1	542	c.294T>C	c.(292-294)tgT>tgC	p.C98C	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Silent_p.C98C	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	98					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GGACTGACTGTTGGATGGTGA	0.473													74	241					0	0	0	0	C	190106202	T	C	190106202	2	2	408	1	0	0	0	0	0	0	0	1	3507	1731	60	5		5	CLDN16	3	190106202	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2659055	190106202	7916228	856	78674											
IL1RAP	3556	broad.mit.edu	37	chr3	190347252	190347252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgctagaagtgccaaagGcgaagttgccaaagcagcca	14	6	11	10	1	1	1	1	0	0	1	1	2	1	1	3	1	5	3	3	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:190347252G>A	ENST00000412504.2	+	8	1268	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	IL1RAP_ENST00000422485.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000072516.3_Missense_Mutation_p.G339D|IL1RAP_ENST00000422940.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000447382.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000434491.1_Missense_Mutation_p.G198D|IL1RAP_ENST00000443369.2_Missense_Mutation_p.G339D|IL1RAP_ENST00000317757.3_Missense_Mutation_p.G339D|IL1RAP_ENST00000439062.1_Missense_Mutation_p.G339D			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	339	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AGTGCCAAAGGCGAAGTTGCC	0.428													9	44					0	0	0	0	A	190347252	G	A	190347252	3	1	408	1	0	0	0	0	1	0	0	0	7713	1203	42	4	1042	4	IL1RAP	3	190347252	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	241050	190347252	7675178	857	78675											
FGF12	2257	broad.mit.edu	37	chr3	192078265	192078265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaatggtaccatctgggtGcatctgcaggaagtatccct	10	11	10	10	0	3	0	1	0	2	0	4	1	4	1	2	3	3	4	2	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:192078265G>A	ENST00000454309.2	-	2	1087	c.262C>T	c.(262-264)Cac>Tac	p.H88Y	FGF12_ENST00000450716.1_Missense_Mutation_p.H26Y|FGF12_ENST00000445105.1_Missense_Mutation_p.H26Y|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Missense_Mutation_p.H26Y	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	88					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CCATCTGGGTGCATCTGCAGG	0.408													6	91					0	0	0	0	A	192078265	G	A	192078265	3	1	408	1	0	0	0	0	1	0	0	0	5886	1319	46	4	485	4	FGF12	3	192078265	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1731013	192078265	5944165	858	78676											
OPA1	4976	broad.mit.edu	37	chr3	193377314	193377314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggtccagactggaaaaaGaggtggttatactggaagaa	14	8	15	4	0	0	3	0	0	0	3	1	5	1	5	1	5	1	1	1	5	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:193377314G>C	ENST00000361510.2	+	25	2718	c.2484G>C	c.(2482-2484)aaG>aaC	p.K828N	OPA1_ENST00000361828.2_Missense_Mutation_p.K791N|OPA1_ENST00000392438.3_Missense_Mutation_p.K773N|OPA1_ENST00000361908.3_Missense_Mutation_p.K810N|OPA1_ENST00000361715.2_Missense_Mutation_p.K792N|OPA1_ENST00000361150.2_Missense_Mutation_p.K774N	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	773					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACTGGAAAAAGAGGTGGTTAT	0.308													11	18					0	0	0	0	C	193377314	G	C	193377314	3	2	408	1	0	0	0	0	1	0	0	0	10942	933	33	2	2582	2	OPA1	3	193377314	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1299049	193377314	4645116	859	78677											
CPN2	1370	broad.mit.edu	37	chr3	194062731	194062731	+	Frame_Shift_Del	DEL	G	G	-																															agagctgggagaacacctgaGggggcagctccgagatgttg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:194062731delG	ENST00000323830.3	-	2	790	c.701delC	c.(700-702)ctfs	p.P234fs	CPN2_ENST00000429275.1_Frame_Shift_Del_p.P234fs	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	234					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GAACACCTGAGGGGGCAGCTC	0.602													16	56	---	---	---	---					-	194062731	G	-	194062731	7	5	408	1	0	1	0	1	0	0	0	0	3840	1000	35	0	940	0	CPN2	3	194062731	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	685417	194062731	3959699	860	78678											
LSG1	55341	broad.mit.edu	37	chr3	194373792	194373792	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgttcggattcactgTgggaaatttcagcctggtcg	8	12	14	7	2	2	1	2	0	0	1	4	4	2	3	1	4	1	1	1	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:194373792T>C	ENST00000265245.5	-	8	1153	c.839A>G	c.(838-840)cAc>cGc	p.H280R		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	280					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GGATTCACTGTGGGAAATTTC	0.448													37	100					0	0	0	0	C	194373792	T	C	194373792	3	2	408	1	0	0	0	0	1	0	0	0	9113	1696	59	5	1165	5	LSG1	3	194373792	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	311061	194373792	3648638	861	78679											
LSG1	55341	broad.mit.edu	37	chr3	194380832	194380832	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctaaacaggagtgggttTcgagcatctactatctggac	11	11	10	9	1	3	0	0	0	3	0	4	3	3	2	0	3	3	2	0	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:194380832T>C	ENST00000265245.5	-	6	866	c.552A>G	c.(550-552)cgA>cgG	p.R184R		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	184					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GGAGTGGGTTTCGAGCATCTA	0.418													4	86					0	0	0	0	C	194380832	T	C	194380832	2	2	408	1	0	0	0	0	0	0	0	1	9113	1770	62	5		5	LSG1	3	194380832	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7040	194380832	3641598	862	78680											
PPP1R2	5504	broad.mit.edu	37	chr3	195269829	195269829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccttgatgggccggtgcGaggccgtcgaggccgccatt	4	8	15	14	5	0	1	0	1	0	0	2	3	1	1	6	4	1	0	6	4	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195269829G>A	ENST00000328432.3	-	1	380	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	7					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		GGGCCGGTGCGAGGCCGTCGA	0.662													4	11					0	0	0	0	A	195269829	G	A	195269829	3	1	408	1	0	0	0	0	1	0	0	0	12446	1059	37	1	621	1	PPP1R2	3	195269829	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	888997	195269829	2752601	863	78681											
TFRC	7037	broad.mit.edu	37	chr3	195785204	195785204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaatatgcaaggaaaGggaaagcagcattgtctaaa	17	8	10	6	0	1	1	0	0	1	1	2	3	2	3	1	2	3	3	1	2	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195785204G>T	ENST00000360110.4	-	16	1797	c.1628C>A	c.(1627-1629)cCt>cAt	p.P543H	TFRC_ENST00000392396.3_Missense_Mutation_p.P543H|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.P462H|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.P261H	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	543					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGCAAGGAAAGGGAAAGCAGC	0.388			T	BCL6	NHL								46	142					1.15181e-12	1.20023e-12	1	0	T	195785204	G	T	195785204	3	4	408	1	0	0	0	0	1	0	0	0	15906	1000	35	4	670	4	TFRC	3	195785204	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	515375	195785204	2237226	864	78682											
TFRC	7037	broad.mit.edu	37	chr3	195796404	195796404	+	Frame_Shift_Del	DEL	T	T	-																															gtgtataaatcctcaaaatcTtttttagtaccaaaattagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195796404delT	ENST00000360110.4	-	7	892	c.723delA	c.(721-723)aafs	p.K241fs	TFRC_ENST00000420415.1_Frame_Shift_Del_p.K160fs|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Frame_Shift_Del_p.K241fs	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	241	PA.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCTCAAAATCTTTTTTAGTAC	0.343			T	BCL6	NHL								13	27	---	---	---	---					-	195796404	T	-	195796404	7	5	408	1	0	1	0	1	0	0	0	0	15906	1606	56	0	1611	0	TFRC	3	195796404	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	11200	195796404	2226026	865	78683											
TFRC	7037	broad.mit.edu	37	chr3	195798888	195798888	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatacctgtctttgacctgAatcttaacaaaatgttgatc	13	14	5	9	0	2	3	0	3	2	0	3	3	2	3	2	0	2	1	2	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195798888A>T	ENST00000360110.4	-	5	739	c.570T>A	c.(568-570)atT>atA	p.I190I	TFRC_ENST00000392396.3_Silent_p.I190I|TFRC_ENST00000420415.1_Silent_p.I109I|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	190					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CTTTGACCTGAATCTTAACAA	0.323			T	BCL6	NHL								5	62					0	0	0	0	T	195798888	A	T	195798888	2	4	408	1	0	0	0	0	0	0	0	1	15906	242	9	5		5	TFRC	3	195798888	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2484	195798888	2223542	866	78684											
UBXN7	26043	broad.mit.edu	37	chr3	196088753	196088753	+	Frame_Shift_Del	DEL	T	T	-																															tggaagagtgatctgttcccTttttccatctggataccgca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196088753delT	ENST00000296328.4	-	10	1344	c.1270delA	c.(1270-1272)ggfs	p.R424fs	UBXN7_ENST00000428095.1_Frame_Shift_Del_p.R262fs|UBXN7_ENST00000535858.1_Frame_Shift_Del_p.R276fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	424	UBX.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATCTGTTCCCTTTTTCCATCT	0.408													15	44	---	---	---	---					-	196088753	T	-	196088753	7	5	408	1	0	1	0	1	0	0	0	0	17014	1608	56	0	207	0	UBXN7	3	196088753	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	289865	196088753	1933677	867	78685											
MFI2	4241	broad.mit.edu	37	chr3	196735731	196735731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggctgttgcccacacacTtgttgcggccctgctcgtcc	3	11	10	17	2	0	0	0	0	0	0	2	0	1	0	4	2	3	4	4	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196735731T>C	ENST00000296350.5	-	12	1744	c.1631A>G	c.(1630-1632)aAg>aGg	p.K544R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	544	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCCCACACACTTGTTGCGGCC	0.647													10	129					0	0	0	0	C	196735731	T	C	196735731	3	2	408	1	0	0	0	0	1	0	0	0	9591	1609	56	5	605	5	MFI2	3	196735731	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	646978	196735731	1286699	868	78686											
DLG1	1739	broad.mit.edu	37	chr3	196792280	196792280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtcacaaaatgataatctCttccatctacctcataatct	15	13	2	11	0	5	1	2	1	3	0	7	1	6	1	2	0	1	0	2	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196792280C>G	ENST00000346964.2	-	23	2528	c.2339G>C	c.(2338-2340)aGa>aCa	p.R780T	DLG1_ENST00000314062.3_Missense_Mutation_p.R707T|DLG1_ENST00000422288.1_Missense_Mutation_p.R707T|DLG1_ENST00000357674.4_Missense_Mutation_p.R747T|DLG1_ENST00000450955.1_Missense_Mutation_p.R747T|DLG1_ENST00000448528.2_Missense_Mutation_p.R758T|DLG1_ENST00000419354.1_Missense_Mutation_p.R758T|DLG1_ENST00000392382.2_Missense_Mutation_p.R725T|DLG1_ENST00000443183.1_Missense_Mutation_p.R654T|DLG1_ENST00000452595.1_Missense_Mutation_p.R642T	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	758	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATGATAATCTCTTCCATCTAC	0.313													29	60					0	0	0	0	G	196792280	C	G	196792280	3	3	408	1	0	0	0	0	1	0	0	0	4591	913	32	2	457	2	DLG1	3	196792280	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	56549	196792280	1230150	869	78687											
IQCG	84223	broad.mit.edu	37	chr3	197639589	197639589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatctctgtatgagtcCgggcctcttcttcggttttc	4	18	8	11	2	4	1	1	1	3	0	8	1	5	1	2	2	0	2	2	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:197639589C>T	ENST00000265239.6	-	9	1344	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	IQCG_ENST00000455191.1_Missense_Mutation_p.R307Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	307										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGTATGAGTCCGGGCCTCTTC	0.448													68	218					0	0	0	0	T	197639589	C	T	197639589	3	4	408	1	0	0	0	0	1	0	0	0	7863	652	23	1	427	1	IQCG	3	197639589	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	847309	197639589	382841	870	78688											
LMLN	89782	broad.mit.edu	37	chr3	197687215	197687215	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgggtccgaagcgttttActcctgttgggcgggctccg	3	12	16	10	4	0	0	0	0	0	0	3	1	3	0	3	3	2	3	3	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:197687215A>G	ENST00000330198.4	+	1	145	c.123A>G	c.(121-123)ttA>ttG	p.L41L	LMLN_ENST00000420910.2_Silent_p.L41L|LMLN_ENST00000482695.1_Intron|LMLN_ENST00000332636.5_Intron	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	41					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GAAGCGTTTTACTCCTGTTGG	0.687													4	158					0	0	0	0	G	197687215	A	G	197687215	2	3	408	1	0	0	0	0	0	0	0	1	8902	388	14	5		5	LMLN	3	197687215	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	47626	197687215	335215	871	78689											
ZNF718	255403	broad.mit.edu	37	chr4	155055	155055	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacacaaaagaattcatActggagagaacccctacaca	18	6	5	12	0	2	2	2	0	0	2	2	4	2	3	2	1	4	0	2	1	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155055A>G	ENST00000510175.1	+	0	490							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAGAATTCATACTGGAGAGAA	0.358													13	41					0	0	0	0	G	155055	A	G	155055	1	3	408	0	1	0	0	0	0	0	0	0	18215	391	14	5		5	ZNF718	4	155055	RNA	SNP	A	TCGA-F7-A624-01A-22D-A30E-08		155055	190999221	872	78690											
ZNF718	255403	broad.mit.edu	37	chr4	155776	155776	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcaaagcctttaaacAgtcctcacacttgaataaac	15	10	6	10	0	1	1	1	1	0	0	2	1	2	1	2	1	3	1	2	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155776A>G	ENST00000510175.1	+	0	1211							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCCTTTAAACAGTCCTCACAC	0.363													11	26					0	0	0	0	G	155776	A	G	155776	1	3	408	0	1	0	0	0	0	0	0	0	18215	188	7	5		5	ZNF718	4	155776	RNA	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	721	155776	190998500	873	78691											
ZNF721	170960	broad.mit.edu	37	chr4	437625	437625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagtatgaattttcttatAttcattcaggtttgtggacc	9	18	7	7	0	3	1	2	1	1	0	4	2	4	2	2	2	0	2	2	2	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:437625A>G	ENST00000338977.5	-	2	643	c.595T>C	c.(595-597)Tat>Cat	p.Y199H	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.Y211H					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATTTTCTTATATTCATTCAGG	0.373													17	47					0	0	0	0	G	437625	A	G	437625	3	3	408	1	0	0	0	0	1	0	0	0	18217	449	16	5	2144	5	ZNF721	4	437625	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	281849	437625	190716651	874	78692											
PIGG	54872	broad.mit.edu	37	chr4	494216	494216	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggaccacgctgccaccAcctctcttcagtaaagttgt	10	10	7	14	1	2	0	1	0	1	0	3	1	2	1	4	1	2	3	4	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:494216A>G	ENST00000453061.2	+	2	292	c.186A>G	c.(184-186)ccA>ccG	p.P62P	PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Silent_p.P62P|PIGG_ENST00000310340.5_Silent_p.P62P|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000503111.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	62					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGCTGCCACCACCTCTCTTCA	0.398													9	45					0	0	0	0	G	494216	A	G	494216	2	3	408	1	0	0	0	0	0	0	0	1	11960	146	6	5		5	PIGG	4	494216	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	56591	494216	190660060	875	78693											
MFSD7	84179	broad.mit.edu	37	chr4	680338	680338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgccgcacggagcccgaCggagtccaggatccagatgg	9	3	14	15	5	0	1	0	0	0	1	2	5	2	4	5	4	1	1	5	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:680338C>T	ENST00000322224.4	-	2	590	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	MFSD7_ENST00000404286.2_Missense_Mutation_p.V93I|MFSD7_ENST00000503156.1_Missense_Mutation_p.V29I|MFSD7_ENST00000515118.1_Missense_Mutation_p.V93I|MFSD7_ENST00000347950.5_Missense_Mutation_p.V71I|MFSD7_ENST00000513740.1_5'UTR			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	93					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGAGCCCGACGGAGTCCAGG	0.647													42	112					0	0	0	0	T	680338	C	T	680338	3	4	408	1	0	0	0	0	1	0	0	0	9606	536	19	1	1438	1	MFSD7	4	680338	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	186122	680338	190473938	876	78694											
LETM1	3954	broad.mit.edu	37	chr4	1818499	1818499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgccagcctgctggTccatctccagctgcgagatc	6	9	10	16	1	1	1	0	0	1	1	4	2	2	1	5	1	6	3	5	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:1818499T>C	ENST00000302787.2	-	12	2182	c.1886A>G	c.(1885-1887)gAc>gGc	p.D629G		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	629					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGCCTGCTGGTCCATCTCCAG	0.592													30	82					0	0	0	0	C	1818499	T	C	1818499	3	2	408	1	0	0	0	0	1	0	0	0	8787	1667	58	5	345	5	LETM1	4	1818499	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1138161	1818499	189335777	877	78695											
WHSC1	7468	broad.mit.edu	37	chr4	1961207	1961207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttccctgcaggtgaataagCcttacgggaaagtccagatc	11	9	10	11	1	0	2	0	1	0	1	3	3	2	3	3	2	3	1	3	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:1961207C>T	ENST00000382895.3	+	19	3426	c.2995C>T	c.(2995-2997)Cct>Tct	p.P999S	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.P347S|WHSC1_ENST00000382891.5_Missense_Mutation_p.P999S|WHSC1_ENST00000382892.2_Missense_Mutation_p.P999S|WHSC1_ENST00000508803.1_Missense_Mutation_p.P999S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	999					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGTGAATAAGCCTTACGGGAA	0.512			T	IGH@	MM								14	66					0	0	0	0	T	1961207	C	T	1961207	3	4	408	1	0	0	0	0	1	0	0	0	17458	739	26	4	3133	4	WHSC1	4	1961207	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	142708	1961207	189193069	878	78696											
RNF4	6047	broad.mit.edu	37	chr4	2515440	2515440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttccacagaatgcggccAtgtcttctgtagccagtgcc	7	11	10	13	2	2	1	0	0	2	1	3	1	3	1	4	1	3	2	4	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:2515440A>G	ENST00000511600.1	+	8	1982	c.467A>G	c.(466-468)cAt>cGt	p.H156R	RNF4_ENST00000541204.1_Missense_Mutation_p.H156R|RNF4_ENST00000511859.1_Missense_Mutation_p.M103V|RNF4_ENST00000314289.8_Missense_Mutation_p.H156R|RNF4_ENST00000506706.1_Missense_Mutation_p.H156R			P78317	RNF4_HUMAN	ring finger protein 4	156					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				GAATGCGGCCATGTCTTCTGT	0.483													36	104					0	0	0	0	G	2515440	A	G	2515440	3	3	408	1	0	0	0	0	1	0	0	0	13577	217	8	5	493	5	RNF4	4	2515440	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	554233	2515440	188638836	879	78697											
FAM193A	8603	broad.mit.edu	37	chr4	2695394	2695394	+	Frame_Shift_Del	DEL	C	C	-																															gaatagccccacgggcttggCccccctcccagcgctctcgc																								rs3208084		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:2695394delC	ENST00000324666.5	+	14	2363	c.2012delC	c.(2011-2013)gcfs	p.A671fs	FAM193A_ENST00000502458.1_Frame_Shift_Del_p.A693fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.A671fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	671								p.A671V(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACGGGCTTGGCCCCCCTCCCA	0.627													73	243	---	---	---	---					-	2695394	C	-	2695394	7	5	408	1	0	1	0	1	0	0	0	0	5567	739	26	0	2058	0	FAM193A	4	2695394	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	179954	2695394	188458882	880	78698											
SH3BP2	6452	broad.mit.edu	37	chr4	2831230	2831230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgcagatgccctgatGcacccaccggcttacccacc	7	8	8	18	1	1	2	0	1	1	1	1	2	1	2	5	1	5	4	5	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:2831230G>A	ENST00000442312.2	+	8	860	c.681G>A	c.(679-681)atG>atA	p.M227I	SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000511747.1_Missense_Mutation_p.M199I|SH3BP2_ENST00000503393.2_Missense_Mutation_p.M256I|SH3BP2_ENST00000452765.2_Missense_Mutation_p.M199I|SH3BP2_ENST00000435136.2_Missense_Mutation_p.M199I|SH3BP2_ENST00000356331.5_Missense_Mutation_p.M199I	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	199					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATGCCCTGATGCACCCACCGG	0.647									Cherubism				40	115					0	0	0	0	A	2831230	G	A	2831230	3	1	408	1	0	0	0	0	1	0	0	0	14332	1319	46	4	882	4	SH3BP2	4	2831230	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	135836	2831230	188323046	881	78699											
ADD1	118	broad.mit.edu	37	chr4	2906672	2906672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagaagacaagatggcTgaactctggccggggcgacg	10	4	18	9	4	1	4	0	1	1	3	1	6	1	4	1	5	1	1	1	5	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:2906672T>C	ENST00000355842.3	+	11	2206	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	ADD1_ENST00000513328.2_Missense_Mutation_p.L448P|ADD1_ENST00000264758.7_Missense_Mutation_p.L448P|ADD1_ENST00000446856.1_Missense_Mutation_p.L448P|ADD1_ENST00000398123.2_Missense_Mutation_p.L448P|ADD1_ENST00000398129.1_Missense_Mutation_p.L448P|ADD1_ENST00000398125.1_Missense_Mutation_p.L448P|ADD1_ENST00000503455.2_Missense_Mutation_p.L448P			P35611	ADDA_HUMAN	adducin 1 (alpha)	448					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACAAGATGGCTGAACTCTGGC	0.542													19	62					0	0	0	0	C	2906672	T	C	2906672	3	2	408	1	0	0	0	0	1	0	0	0	304	1580	55	5	1377	5	ADD1	4	2906672	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	75442	2906672	188247604	882	78700											
HTT	3064	broad.mit.edu	37	chr4	3234934	3234934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgcctgctggagagcacGctcaggagcagccacctgcc	8	4	13	16	2	1	1	1	0	0	1	1	3	1	2	5	2	6	4	5	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3234934G>A	ENST00000355072.5	+	61	8455	c.8310G>A	c.(8308-8310)acG>acA	p.T2770T	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2770					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGGAGAGCACGCTCAGGAGCA	0.647													54	140					0	0	0	0	A	3234934	G	A	3234934	2	1	408	1	0	0	0	0	0	0	0	1	7510	1074	38	1		1	HTT	4	3234934	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	328262	3234934	187919342	883	78701											
HTT	3064	broad.mit.edu	37	chr4	3240680	3240680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttctttgtcagcgcgTccaccagcccgtgggtcgcg	3	10	12	16	5	2	0	1	0	1	0	4	0	3	0	4	1	3	1	4	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3240680T>C	ENST00000355072.5	+	66	9335	c.9190T>C	c.(9190-9192)Tcc>Ccc	p.S3064P		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	3064					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGTCAGCGCGTCCACCAGCCC	0.617													7	22					0	0	0	0	C	3240680	T	C	3240680	3	2	408	1	0	0	0	0	1	0	0	0	7510	1667	58	5	9452	5	HTT	4	3240680	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5746	3240680	187913596	884	78702											
ADRA2C	152	broad.mit.edu	37	chr4	3768770	3768770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcatctgtgtgccatcaGcctggaccgctactggtcgg	5	10	13	13	3	2	0	1	0	1	0	3	1	2	1	3	3	4	2	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3768770G>A	ENST00000330055.5	+	1	646	c.437G>A	c.(436-438)aGc>aAc	p.S146N	ADRA2C_ENST00000509482.1_Missense_Mutation_p.S146N	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	146					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TGTGCCATCAGCCTGGACCGC	0.627													5	62					0	0	0	0	A	3768770	G	A	3768770	3	1	408	1	0	0	0	0	1	0	0	0	339	971	34	4	439	4	ADRA2C	4	3768770	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	528090	3768770	187385506	885	78703											
ZBTB49	166793	broad.mit.edu	37	chr4	4304616	4304616	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagagaaagctagcagccaAagtgctgaagaaaaagaaag	20	4	11	6	0	0	4	0	1	0	3	0	5	0	4	1	0	4	3	1	0	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:4304616A>G	ENST00000337872.4	+	3	1174	c.1053A>G	c.(1051-1053)caA>caG	p.Q351Q	ZBTB49_ENST00000355834.3_Silent_p.Q351Q|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTAGCAGCCAAAGTGCTGAAG	0.443													22	60					0	0	0	0	G	4304616	A	G	4304616	2	3	408	1	0	0	0	0	0	0	0	1	17645	11	1	5		5	ZBTB49	4	4304616	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	535846	4304616	186849660	886	78704											
ZBTB49	166793	broad.mit.edu	37	chr4	4317368	4317368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaattacattctaggtttgCagcctctggcgacgtccagc	9	11	9	12	2	2	0	0	0	2	0	3	1	3	0	2	2	4	2	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:4317368C>T	ENST00000337872.4	+	6	1503	c.1382C>T	c.(1381-1383)gCa>gTa	p.A461V	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TCTAGGTTTGCAGCCTCTGGC	0.438													7	16					0	0	0	0	T	4317368	C	T	4317368	3	4	408	1	0	0	0	0	1	0	0	0	17645	710	25	4	1400	4	ZBTB49	4	4317368	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	12752	4317368	186836908	887	78705											
STX18	53407	broad.mit.edu	37	chr4	4422626	4422626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgccttccttgatattttCagttgcccccacaactaact	8	15	5	13	0	1	1	1	1	0	0	2	1	2	1	4	0	4	2	4	0	3	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:4422626C>T	ENST00000306200.2	-	10	940	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	STX18_ENST00000505286.1_Missense_Mutation_p.E293K	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	293	t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTGATATTTTCAGTTGCCCCC	0.468													29	155					0	0	0	0	T	4422626	C	T	4422626	3	4	408	1	0	0	0	0	1	0	0	0	15431	835	29	2	138	2	STX18	4	4422626	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	105258	4422626	186731650	888	78706											
EVC2	132884	broad.mit.edu	37	chr4	5627482	5627482	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgccttatataccttttgTagcaactctcgtcttctctt	7	18	4	12	1	3	0	0	0	3	0	5	0	3	0	2	0	4	2	2	0	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:5627482T>C	ENST00000310917.2	-	13	2531	c.1800A>G	c.(1798-1800)ctA>ctG	p.L600L	EVC2_ENST00000344938.1_Silent_p.L680L|EVC2_ENST00000344408.5_Silent_p.L680L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	680						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATACCTTTTGTAGCAACTCTC	0.388													22	53					0	0	0	0	C	5627482	T	C	5627482	2	2	408	1	0	0	0	0	0	0	0	1	5324	1625	57	5		5	EVC2	4	5627482	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1204856	5627482	185526794	889	78707											
MAN2B2	23324	broad.mit.edu	37	chr4	6611559	6611559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattacacgtatgcaatcCgctcccggctcacccatgtg	10	9	8	14	3	1	1	1	0	0	1	3	1	3	1	3	1	2	4	3	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:6611559C>T	ENST00000285599.3	+	13	2077	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R630C|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	681					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTATGCAATCCGCTCCCGGCT	0.572													25	88					0	0	0	0	T	6611559	C	T	6611559	3	4	408	1	0	0	0	0	1	0	0	0	9286	652	23	1	2091	1	MAN2B2	4	6611559	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	984077	6611559	184542717	890	78708											
MAN2B2	23324	broad.mit.edu	37	chr4	6612992	6612992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaggcccgtggtgctgttCggagacctcgctggtaaagg	7	8	15	11	3	0	1	0	0	0	1	2	2	0	1	2	5	1	4	2	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:6612992C>T	ENST00000285599.3	+	15	2586	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	MAN2B2_ENST00000504248.1_Silent_p.F799F	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	850					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGGTGCTGTTCGGAGACCTCG	0.657													9	42					0	0	0	0	T	6612992	C	T	6612992	2	4	408	1	0	0	0	0	0	0	0	1	9286	883	31	1		1	MAN2B2	4	6612992	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1433	6612992	184541284	891	78709											
TBC1D14	57533	broad.mit.edu	37	chr4	7011633	7011633	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatgacatgttgcacagTattttgggcgcttatacttg	9	16	9	7	1	1	1	1	1	0	0	1	1	1	1	0	1	2	4	0	1	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:7011633T>C	ENST00000409757.4	+	10	1600	c.1476T>C	c.(1474-1476)agT>agC	p.S492S	TBC1D14_ENST00000446947.2_Silent_p.S139S|TBC1D14_ENST00000451522.2_Silent_p.S212S|TBC1D14_ENST00000410031.1_Silent_p.S264S|TBC1D14_ENST00000448507.1_Silent_p.S492S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	492	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGTTGCACAGTATTTTGGGCG	0.373													44	171					0	0	0	0	C	7011633	T	C	7011633	2	2	408	1	0	0	0	0	0	0	0	1	15694	1635	57	5		5	TBC1D14	4	7011633	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	398641	7011633	184142643	892	78710											
AFAP1	60312	broad.mit.edu	37	chr4	7780604	7780604	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggctttttacccttgagCtgttgaaataaacatataag	12	13	10	6	0	0	2	0	2	0	0	0	2	0	2	1	2	3	3	1	2	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:7780604C>A	ENST00000420658.1	-	14	2055		c.e14-1		AFAP1_ENST00000382543.3_Splice_Site|AFAP1_ENST00000358461.2_Splice_Site|AFAP1_ENST00000513842.1_Splice_Site|AFAP1_ENST00000360265.4_Splice_Site	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1							actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TACCCTTGAGCTGTTGAAATA	0.408													11	116					0.00136819	0.00138229	1	0	A	7780604	C	A	7780604	5	1	408	1	0	0	0	0	0	0	1	0	353	811	28	4	682	4	AFAP1	4	7780604	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	768971	7780604	183373672	893	78711											
CPEB2	132864	broad.mit.edu	37	chr4	15054114	15054114	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttggagttttaaattcAcccacctgttattcagctca	11	14	6	10	0	3	0	3	0	0	0	3	1	3	1	2	1	1	4	2	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:15054114A>G	ENST00000538197.1	+	7	2277	c.2277A>G	c.(2275-2277)tcA>tcG	p.S759S	CPEB2_ENST00000259997.5_Silent_p.S322S|CPEB2_ENST00000345451.3_Silent_p.S284S|CPEB2_ENST00000382395.3_Silent_p.S292S|CPEB2_ENST00000541112.1_Silent_p.S751S|CPEB2_ENST00000442003.2_Silent_p.S732S|CPEB2_ENST00000382401.3_Silent_p.S287S|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000507071.1_Silent_p.S314S	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	314					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTTTAAATTCACCCACCTGTT	0.393													23	86					0	0	0	0	G	15054114	A	G	15054114	2	3	408	1	0	0	0	0	0	0	0	1	3831	146	6	5		5	CPEB2	4	15054114	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7273510	15054114	176100162	894	78712											
C1QTNF7	114905	broad.mit.edu	37	chr4	15437503	15437503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctggacctccagggcccCctggagcaaatggttcccct	6	8	11	16	0	0	0	0	0	0	0	2	2	2	2	7	4	2	2	7	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:15437503C>T	ENST00000295297.4	+	2	416	c.157C>T	c.(157-159)Cct>Tct	p.P53S	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.P46S|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.P46S	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	46	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TCCAGGGCCCCCTGGAGCAAA	0.572													20	55					0	0	0	0	T	15437503	C	T	15437503	3	4	408	1	0	0	0	0	1	0	0	0	1987	623	22	4	163	4	C1QTNF7	4	15437503	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	383389	15437503	175716773	895	78713											
CC2D2A	57545	broad.mit.edu	37	chr4	15569390	15569390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaccctagctggaatgaaGaactagaacttccatttagg	15	9	8	9	0	0	3	0	1	0	2	1	4	1	4	2	2	4	1	2	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:15569390G>A	ENST00000424120.1	+	26	3633	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	CC2D2A_ENST00000503292.1_Missense_Mutation_p.E1127K|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E1127K|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E1078K			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1127	C2.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTGGAATGAAGAACTAGAACT	0.388													5	26					0	0	0	0	A	15569390	G	A	15569390	3	1	408	1	0	0	0	0	1	0	0	0	2753	943	33	2	3680	2	CC2D2A	4	15569390	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	131887	15569390	175584886	896	78714											
BST1	683	broad.mit.edu	37	chr4	15716967	15716967	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggttcagagccaacaggAgcctatcccatcaaagggta	14	7	10	10	0	2	1	2	0	0	1	3	2	3	2	3	3	3	2	3	3	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:15716967A>C	ENST00000382346.3	+	6	688	c.639A>C	c.(637-639)ggA>ggC	p.G213G	BST1_ENST00000265016.4_Silent_p.G198G			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	198					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AGCCAACAGGAGCCTATCCCA	0.373													8	41					0	0	0	0	C	15716967	A	C	15716967	2	2	408	1	0	0	0	0	0	0	0	1	1541	291	11	5		5	BST1	4	15716967	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	147577	15716967	175437309	897	78715											
DCAF16	54876	broad.mit.edu	37	chr4	17805713	17805713	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaactaatattttcttcttCctcactttctgattctgaca	9	19	3	10	0	5	2	1	2	4	0	6	2	6	2	1	0	1	1	1	0	3	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:17805713C>A	ENST00000382247.1	-	3	1112	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	DCAF16_ENST00000536863.1_Nonsense_Mutation_p.E18*	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	18	Poly-Glu.					CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTTTCTTCTTCCTCACTTTCT	0.423													7	38					0.00307968	0.00310584	1	0	A	17805713	C	A	17805713	4	1	408	1	0	0	0	0	0	1	0	0	4301	864	30	2	602	2	DCAF16	4	17805713	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2088746	17805713	173348563	898	78716											
KCNIP4	80333	broad.mit.edu	37	chr4	20884321	20884321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttggtgctgttctgagCgtacaggaaacctagaagat	10	10	13	8	2	1	3	0	1	1	2	1	4	1	4	1	2	4	4	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:20884321C>A	ENST00000382152.2	-	2	240	c.73G>T	c.(73-75)Gct>Tct	p.A25S	KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	25	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTGTTCTGAGCGTACAGGAAA	0.498													12	32					1.41608e-15	1.48453e-15	1	0	A	20884321	C	A	20884321	3	1	408	1	0	0	0	0	1	0	0	0	8095	768	27	3	712	3	KCNIP4	4	20884321	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3078608	20884321	170269955	899	78717											
GPR125	166647	broad.mit.edu	37	chr4	22414896	22414896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcacccatctgacttccagCctccttgtccgttcagcaaa	8	10	7	16	1	2	1	1	1	1	0	5	1	5	1	5	1	2	3	5	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:22414896C>T	ENST00000334304.5	-	14	2410	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	714	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			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)				TGACTTCCAGCCTCCTTGTCC	0.468													42	169					0	0	0	0	T	22414896	C	T	22414896	3	4	408	1	0	0	0	0	1	0	0	0	6688	739	26	4	1848	4	GPR125	4	22414896	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1530575	22414896	168739380	900	78718											
SOD3	6649	broad.mit.edu	37	chr4	24801537	24801537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgagtccaccgggccccacTacaacccgctggccgtgccg	6	4	12	19	5	0	0	0	0	0	0	1	1	1	0	7	2	3	1	7	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:24801537T>C	ENST00000382120.3	+	2	599	c.394T>C	c.(394-396)Tac>Cac	p.Y132H		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	132					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				CGGGCCCCACTACAACCCGCT	0.736													3	22					0	0	0	0	C	24801537	T	C	24801537	3	2	408	1	0	0	0	0	1	0	0	0	15010	1522	53	5	396	5	SOD3	4	24801537	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2386641	24801537	166352739	901	78719											
SLC34A2	10568	broad.mit.edu	37	chr4	25678331	25678331	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggctcagggtgaggTccctgcctcggactcaaaga	10	6	14	11	1	2	3	2	1	0	2	4	5	3	4	2	4	1	1	2	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:25678331T>A	ENST00000382051.3	+	13	2083	c.2033T>A	c.(2032-2034)gTc>gAc	p.V678D	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V677D|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V677D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	678					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAGGGTGAGGTCCCTGCCTCG	0.582			T	ROS1	NSCLC								13	62					0	0	0	0	A	25678331	T	A	25678331	3	1	408	1	0	0	0	0	1	0	0	0	14656	1667	58	5	2079	5	SLC34A2	4	25678331	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	876794	25678331	165475945	902	78720											
PCDH7	5099	broad.mit.edu	37	chr4	30921832	30921832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggacccacatcaggggTcactgcagagttgctatgac	10	8	11	12	0	3	2	3	1	0	1	3	3	3	3	1	3	2	3	1	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:30921832T>C	ENST00000543491.1	+	2	3232	c.3232T>C	c.(3232-3234)Tca>Cca	p.S1078P	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACATCAGGGGTCACTGCAGAG	0.502													8	86					0	0	0	0	C	30921832	T	C	30921832	3	2	408	1	0	0	0	0	1	0	0	0	11587	1667	58	5	3323	5	PCDH7	4	30921832	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5243501	30921832	160232444	903	78721											
PGM2	55276	broad.mit.edu	37	chr4	37841857	37841857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataatgactactttgaagAccttaaaaagtactgtttcc	15	13	5	8	0	0	3	0	2	0	1	1	3	1	3	2	0	2	2	2	0	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:37841857A>G	ENST00000381967.4	+	6	795	c.695A>G	c.(694-696)gAc>gGc	p.D232G	PGM2_ENST00000537241.1_Missense_Mutation_p.D72G|PGM2_ENST00000544359.1_Missense_Mutation_p.D93G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	232					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TACTTTGAAGACCTTAAAAAG	0.383													24	75					0	0	0	0	G	37841857	A	G	37841857	3	3	408	1	0	0	0	0	1	0	0	0	11870	275	10	5	717	5	PGM2	4	37841857	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6920025	37841857	153312419	904	78722											
PGM2	55276	broad.mit.edu	37	chr4	37851807	37851807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtatttgtttgataggtAtggctaccatattactaaag	11	18	8	4	0	0	1	0	1	0	0	0	1	0	1	1	2	2	4	1	2	8	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:37851807A>G	ENST00000381967.4	+	12	1515	c.1415A>G	c.(1414-1416)tAt>tGt	p.Y472C	PGM2_ENST00000537241.1_Missense_Mutation_p.Y312C	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	472					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTGATAGGTATGGCTACCAT	0.313													5	24					0	0	0	0	G	37851807	A	G	37851807	3	3	408	1	0	0	0	0	1	0	0	0	11870	449	16	5	1461	5	PGM2	4	37851807	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	9950	37851807	153302469	905	78723											
TBC1D1	23216	broad.mit.edu	37	chr4	38016236	38016236	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccaagaagttcgaggTgctcttctgcggccgcgtga	6	12	13	10	4	2	2	0	1	2	1	4	3	3	2	2	2	2	3	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:38016236T>A	ENST00000261439.4	+	3	879	c.524T>A	c.(523-525)gTg>gAg	p.V175E	TBC1D1_ENST00000508802.1_Missense_Mutation_p.V175E	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	175						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGTTCGAGGTGCTCTTCTGC	0.637													52	177					0	0	0	0	A	38016236	T	A	38016236	3	1	408	1	0	0	0	0	1	0	0	0	15688	1696	59	5	530	5	TBC1D1	4	38016236	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	164429	38016236	153138040	906	78724											
CHRNA9	55584	broad.mit.edu	37	chr4	40339350	40339350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatccccagtgacctcGtgtggaggccagacatcgtc	8	8	12	13	2	1	2	1	1	0	1	5	4	2	4	4	3	0	0	4	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:40339350G>A	ENST00000310169.2	+	3	473	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	CHRNA9_ENST00000502377.1_3'UTR	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	112					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CAGTGACCTCGTGTGGAGGCC	0.468													15	55					0	0	0	0	A	40339350	G	A	40339350	3	1	408	1	0	0	0	0	1	0	0	0	3418	1145	40	1	344	1	CHRNA9	4	40339350	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2323114	40339350	150814926	907	78725											
TMEM33	55161	broad.mit.edu	37	chr4	41946932	41946932	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgatgcctgcgacagttttTatgctttttaggtaaggaaa	10	15	10	6	1	0	1	0	1	0	0	0	3	0	2	1	2	3	3	1	2	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:41946932T>C	ENST00000504986.1	+	5	884	c.519T>C	c.(517-519)ttT>ttC	p.F173F	TMEM33_ENST00000513702.1_Silent_p.F173F|TMEM33_ENST00000325094.5_Silent_p.F173F	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	173						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CGACAGTTTTTATGCTTTTTA	0.323													15	59					0	0	0	0	C	41946932	T	C	41946932	2	2	408	1	0	0	0	0	0	0	0	1	16250	1751	61	5		5	TMEM33	4	41946932	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1607582	41946932	149207344	908	78726											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984194	41984194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaccggaaggtgaagTccctgtgctgggcctcgctg	6	8	13	14	2	0	1	0	1	0	0	3	2	2	2	5	3	2	2	5	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:41984194T>C	ENST00000333141.5	+	1	482	c.385T>C	c.(385-387)Tcc>Ccc	p.S129P		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	129										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAAGGTGAAGTCCCTGTGCTG	0.572													44	129					0	0	0	0	C	41984194	T	C	41984194	3	2	408	1	0	0	0	0	1	0	0	0	4304	1667	58	5	387	5	DCAF4L1	4	41984194	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	37262	41984194	149170082	909	78727											
ATP8A1	10396	broad.mit.edu	37	chr4	42554538	42554538	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctggagatgctgcttgAtaaataatcttgtcaccttc	10	14	8	9	0	2	2	1	1	1	1	3	3	2	2	2	1	3	3	2	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:42554538A>T	ENST00000381668.5	-	17	1734	c.1503T>A	c.(1501-1503)taT>taA	p.Y501*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.Y486*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	501					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATGCTGCTTGATAAATAATCT	0.348													5	60					0	0	0	0	T	42554538	A	T	42554538	4	4	408	1	0	0	0	0	0	1	0	0	1196	340	12	5	2075	5	ATP8A1	4	42554538	Nonsense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	570344	42554538	148599738	910	78728											
GRXCR1	389207	broad.mit.edu	37	chr4	43032386	43032386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttatacagagagtacaGcatccacatgagtgtccctc	12	9	7	13	0	0	2	0	1	0	1	3	3	2	2	3	0	3	2	3	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:43032386G>A	ENST00000399770.2	+	4	702	c.702G>A	c.(700-702)caG>caA	p.Q234Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	234	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGAGAGTACAGCATCCACATG	0.493													19	90					0	0	0	0	A	43032386	G	A	43032386	2	1	408	1	0	0	0	0	0	0	0	1	6862	962	34	4		4	GRXCR1	4	43032386	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	477848	43032386	148121890	911	78729											
KCTD8	386617	broad.mit.edu	37	chr4	44177057	44177057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcttttttagaggggCgatccaatgttaaagtgtta	10	14	12	5	1	0	1	0	0	0	1	1	2	1	1	1	3	1	3	1	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:44177057C>T	ENST00000360029.3	-	2	1455	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R391H(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTAGAGGGGCGATCCAATGT	0.507										HNSCC(17;0.042)			54	158					0	0	0	0	T	44177057	C	T	44177057	3	4	408	1	0	0	0	0	1	0	0	0	8168	768	27	1	253	1	KCTD8	4	44177057	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1144671	44177057	146977219	912	78730											
CORIN	10699	broad.mit.edu	37	chr4	47765467	47765467	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatgatatgttgatagcaActgaggcgatggagatatgt	13	11	13	4	1	0	4	0	3	0	1	0	6	0	4	0	2	3	3	0	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:47765467A>G	ENST00000273857.4	-	4	545	c.546T>C	c.(544-546)agT>agC	p.S182S	CORIN_ENST00000505909.1_Silent_p.S182S|CORIN_ENST00000508498.1_Silent_p.S43S|CORIN_ENST00000504584.1_Silent_p.S182S|CORIN_ENST00000502252.1_Silent_p.S115S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	182	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTTGATAGCAACTGAGGCGAT	0.473													15	38					0	0	0	0	G	47765467	A	G	47765467	2	3	408	1	0	0	0	0	0	0	0	1	3782	40	2	5		5	CORIN	4	47765467	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3588410	47765467	143388809	913	78731											
CORIN	10699	broad.mit.edu	37	chr4	47765562	47765562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcagcgtggcgtggtaggGcagcatctgacactggctgt	6	10	16	9	2	2	1	1	1	1	0	2	1	2	1	0	4	2	4	0	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:47765562G>A	ENST00000273857.4	-	4	450	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	CORIN_ENST00000505909.1_Missense_Mutation_p.P151S|CORIN_ENST00000508498.1_Missense_Mutation_p.P12S|CORIN_ENST00000504584.1_Missense_Mutation_p.P151S|CORIN_ENST00000502252.1_Missense_Mutation_p.P84S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	151	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCGTGGTAGGGCAGCATCTGA	0.458													19	94					0	0	0	0	A	47765562	G	A	47765562	3	1	408	1	0	0	0	0	1	0	0	0	3782	1203	42	4	2753	4	CORIN	4	47765562	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	95	47765562	143388714	914	78732											
FRYL	285527	broad.mit.edu	37	chr4	48517166	48517166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcaggagctagaggctctgGcatttcagtttcttctaaat	9	15	9	8	0	5	1	2	0	3	1	5	2	5	2	0	3	1	4	0	3	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:48517166G>A	ENST00000358350.4	-	56	8420	c.7816C>T	c.(7816-7818)Cca>Tca	p.P2606S	FRYL_ENST00000507873.2_Missense_Mutation_p.P2S|FRYL_ENST00000264319.7_Missense_Mutation_p.P2S|FRYL_ENST00000537810.1_Missense_Mutation_p.P2606S|FRYL_ENST00000503238.1_Missense_Mutation_p.P2606S	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2606					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAGGCTCTGGCATTTCAGTT	0.403													49	147					0	0	0	0	A	48517166	G	A	48517166	3	1	408	1	0	0	0	0	1	0	0	0	6112	1203	42	4	1261	4	FRYL	4	48517166	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	751604	48517166	142637110	915	78733											
KIT	3815	broad.mit.edu	37	chr4	55561942	55561942	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattccatttatgtgtttgTtagaggtaaatgcttggctt	9	18	9	5	0	0	1	0	0	0	1	1	1	1	1	1	2	1	5	1	2	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:55561942T>C	ENST00000288135.5	+	2	429	c.332T>C	c.(331-333)gTt>gCt	p.V111A		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	111	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATGTGTTTGTTAGAGGTAAA	0.408		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				14	36					0	0	0	0	C	55561942	T	C	55561942	3	2	408	1	0	0	0	0	1	0	0	0	8381	1725	60	5	338	5	KIT	4	55561942	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7044776	55561942	135592334	916	78734											
AASDH	132949	broad.mit.edu	37	chr4	57237793	57237793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaacatcttcttgtgTgatgtcaaaaagtaccctaa	17	11	5	8	0	3	1	1	1	2	0	3	1	3	1	1	0	3	1	1	0	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:57237793T>C	ENST00000205214.6	-	5	865	c.685A>G	c.(685-687)Aca>Gca	p.T229A	AASDH_ENST00000451613.1_Missense_Mutation_p.T229A|AASDH_ENST00000602986.1_Missense_Mutation_p.T76A|AASDH_ENST00000513376.1_Missense_Mutation_p.T129A|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.T229A|AASDH_ENST00000510762.1_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	229					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCTTCTTGTGTGATGTCAAAA	0.383													6	66					0	0	0	0	C	57237793	T	C	57237793	3	2	408	1	0	0	0	0	1	0	0	0	22	1696	59	5	2655	5	AASDH	4	57237793	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1675851	57237793	133916483	917	78735											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69107494	69107494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagatcgtagtccatagtgGccaagatctttgggaagata	14	10	11	6	1	1	3	0	0	1	3	3	4	2	4	2	2	0	1	2	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:69107494G>A	ENST00000332644.5	-	2	198	c.37C>T	c.(37-39)Cca>Tca	p.P13S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	13					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GTCCATAGTGGCCAAGATCTT	0.403													8	44					0	0	0	0	A	69107494	G	A	69107494	3	1	408	1	0	0	0	0	1	0	0	0	16334	1203	42	4	1249	4	TMPRSS11B	4	69107494	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	11869701	69107494	122046782	918	78736											
UGT2B10	7365	broad.mit.edu	37	chr4	69693187	69693187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacatgaaggccaagggaGcagctgttagagtggacttc	11	8	13	9	0	1	2	1	1	0	1	2	4	1	4	1	3	2	3	1	3	3	2	rs71615102		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:69693187G>A	ENST00000265403.7	+	5	1255	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	UGT2B10_ENST00000458688.2_Missense_Mutation_p.A326T	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	410					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGCCAAGGGAGCAGCTGTTAG	0.423													7	191					0	0	0	0	A	69693187	G	A	69693187	3	1	408	1	0	0	0	0	1	0	0	0	17052	971	34	4	1246	4	UGT2B10	4	69693187	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	585693	69693187	121461089	919	78737											
UGT2B28	54490	broad.mit.edu	37	chr4	70156348	70156348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttataactcatggtggaGccaatggcatctatgaggca	11	12	10	8	0	2	1	1	1	1	0	2	2	2	2	1	4	2	2	1	4	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:70156348G>A	ENST00000335568.5	+	5	1131	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	377					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCATGGTGGAGCCAATGGCAT	0.398													7	180					0	0	0	0	A	70156348	G	A	70156348	3	1	408	1	0	0	0	0	1	0	0	0	17056	971	34	4	1147	4	UGT2B28	4	70156348	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	463161	70156348	120997928	920	78738											
UGT2A1	10941	broad.mit.edu	37	chr4	70455168	70455168	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtatgaccaaaaatatAgccgttgtcacacagaccag	15	9	7	10	1	1	2	1	1	0	1	1	2	1	2	3	0	1	2	3	0	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:70455168A>G	ENST00000503640.1	-	6	1561	c.1506T>C	c.(1504-1506)gcT>gcC	p.A502A	UGT2A1_ENST00000514019.1_Silent_p.A668A|UGT2A1_ENST00000512704.1_Silent_p.A458A|UGT2A1_ENST00000286604.4_Silent_p.A502A|UGT2A2_ENST00000457664.2_Silent_p.A511A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	502					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCAAAAATATAGCCGTTGTCA	0.403													4	91					0	0	0	0	G	70455168	A	G	70455168	2	3	408	1	0	0	0	0	0	0	0	1	17049	407	15	5		5	UGT2A1	4	70455168	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	298820	70455168	120699108	921	78739											
SULT1E1	6783	broad.mit.edu	37	chr4	70721142	70721142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttcactaacccaggttgTacctgtaaaaattaaataaa	18	12	4	7	0	1	0	1	0	0	0	1	0	1	0	2	1	2	3	2	1	10	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:70721142T>C	ENST00000226444.3	-	3	260	c.148A>G	c.(148-150)Aca>Gca	p.T50A		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	50					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ACCCAGGTTGTACCTGTAAAA	0.368													5	45					0	0	0	0	C	70721142	T	C	70721142	3	2	408	1	0	0	0	0	1	0	0	0	15470	1638	57	5	760	5	SULT1E1	4	70721142	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	265974	70721142	120433134	922	78740											
PROL1	58503	broad.mit.edu	37	chr4	71275344	71275344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacaacctcgactctttcCgggttatccaaacctacatt	11	12	5	13	2	1	1	0	0	1	1	4	2	3	1	4	1	3	1	4	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:71275344C>T	ENST00000399575.2	+	3	473	c.299C>T	c.(298-300)cCg>cTg	p.P100L	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	100	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CGACTCTTTCCGGGTTATCCA	0.408													58	165					0	0	0	0	T	71275344	C	T	71275344	3	4	408	1	0	0	0	0	1	0	0	0	12634	652	23	1	305	1	PROL1	4	71275344	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	554202	71275344	119878932	923	78741											
DCK	1633	broad.mit.edu	37	chr4	71888147	71888147	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtatgagaaacctgaaCgatggtcttttaccttccaa	12	13	8	8	1	1	3	0	3	1	1	2	5	2	3	3	1	3	1	3	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:71888147C>T	ENST00000286648.5	+	3	668	c.271C>T	c.(271-273)Cga>Tga	p.R91*	DCK_ENST00000504730.1_Nonsense_Mutation_p.R91*|MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504952.1_Nonsense_Mutation_p.R91*	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	91					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	GAAACCTGAACGATGGTCTTT	0.378													6	107					0	0	0	0	T	71888147	C	T	71888147	4	4	408	1	0	0	0	0	0	1	0	0	4322	528	19	1	281	1	DCK	4	71888147	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	612803	71888147	119266129	924	78742											
NPFFR2	10886	broad.mit.edu	37	chr4	72994604	72994604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagttggcatattctgcaTgcctataacactgctggaca	11	12	8	10	0	1	0	0	0	1	0	1	1	1	1	1	2	4	4	1	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:72994604T>C	ENST00000308744.6	+	2	700	c.602T>C	c.(601-603)aTg>aCg	p.M201T	NPFFR2_ENST00000358749.3_Missense_Mutation_p.M99T|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.M102T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	201					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATATTCTGCATGCCTATAACA	0.368													30	92					0	0	0	0	C	72994604	T	C	72994604	3	2	408	1	0	0	0	0	1	0	0	0	10648	1464	51	5	614	5	NPFFR2	4	72994604	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1106457	72994604	118159672	925	78743											
THAP6	152815	broad.mit.edu	37	chr4	76442067	76442067	+	Frame_Shift_Del	DEL	A	A	-																															cagccggcatttgggagcctAaaaaaggagatgtgttgtgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:76442067delA	ENST00000311638.3	+	3	234	c.166delA	c.(166-168)aafs	p.K57fs	THAP6_ENST00000514480.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000504190.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000508105.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507885.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507556.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000507557.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000380837.3_Frame_Shift_Del_p.K57fs|THAP6_ENST00000502620.1_Frame_Shift_Del_p.K16fs	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	57						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTGGGAGCCTAAAAAAGGAGA	0.378													9	121	---	---	---	---					-	76442067	A	-	76442067	7	5	408	1	0	1	0	1	0	0	0	0	15942	363	13	0	172	0	THAP6	4	76442067	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	3447463	76442067	114712209	926	78744											
SDAD1	55153	broad.mit.edu	37	chr4	76891490	76891490	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaatcaagtgaatggcTgaaaagttaaacacctctgg	15	10	9	7	0	3	3	2	3	1	0	3	3	3	3	1	2	1	2	1	2	7	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:76891490T>C	ENST00000356260.5	-	10	973	c.855A>G	c.(853-855)tcA>tcG	p.S285S	SDAD1_ENST00000395711.4_Silent_p.S248S|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	285					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGAATGGCTGAAAAGTTAA	0.388													14	57					0	0	0	0	C	76891490	T	C	76891490	2	2	408	1	0	0	0	0	0	0	0	1	14037	1567	55	5		5	SDAD1	4	76891490	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	449423	76891490	114262786	927	78745											
FRAS1	80144	broad.mit.edu	37	chr4	79360054	79360054	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattctttttgtttttttatAgatactcagctgtgtttgaa	8	22	7	4	0	2	2	1	1	1	1	2	3	2	2	0	0	2	3	0	0	4	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:79360054A>G	ENST00000264895.6	+	40	5806		c.e40-1		FRAS1_ENST00000325942.6_Splice_Site	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTTTTTTATAGATACTCAGC	0.363													17	84					0	0	0	0	G	79360054	A	G	79360054	5	3	408	1	0	0	0	0	0	0	1	0	6089	434	15	5	5523	5	FRAS1	4	79360054	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2468564	79360054	111794222	928	78746											
HNRNPD	3184	broad.mit.edu	37	chr4	83279810	83279810	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcaaaacatttataacatAcctcaccaaaaccaccaaag	19	7	3	12	0	2	0	2	0	0	0	2	0	2	0	4	1	4	0	4	1	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:83279810A>G	ENST00000313899.7	-	4	899		c.e4+1		HNRNPD_ENST00000353341.4_Splice_Site|HNRNPD_ENST00000543098.1_Splice_Site|HNRNPD_ENST00000541060.1_Splice_Site|HNRNPD_ENST00000352301.4_Splice_Site	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)						nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTTATAACATACCTCACCAAA	0.373													29	90					0	0	0	0	G	83279810	A	G	83279810	5	3	408	1	0	0	0	0	0	0	1	0	7314	405	14	5	464	5	HNRNPD	4	83279810	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3919756	83279810	107874466	929	78747											
SCD5	79966	broad.mit.edu	37	chr4	83719663	83719664	+	Frame_Shift_Ins	INS	-	-	C																															gcgtcgcagaaagggatcttINSccccgcgtcggtggccgggc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:83719663_83719664insC	ENST00000319540.4	-	1	346_347	c.27_28insG	c.(25-30)ggagatfs	p.D10fs	SCD5_ENST00000273908.4_Frame_Shift_Ins_p.D10fs|SCD5_ENST00000282709.4_Frame_Shift_Ins_p.D10fs	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	10					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AAAGGGATCTTCCCCGCGTCGG	0.752													7	19	---	---	---	---					C	83719664	-	C	83719663	7	5	408	1	0	1	1	0	0	0	0	0	13973	1792	62	0	1190	0	SCD5	4	83719663	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	439853	83719663	107434613	930	78748											
THAP9	79725	broad.mit.edu	37	chr4	83839815	83839815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaatctttttgtagatgTgaataagcatctctttgatg	11	19	7	4	0	2	3	0	2	2	1	3	3	2	3	0	0	1	2	0	0	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:83839815T>C	ENST00000302236.5	+	5	2501	c.2450T>C	c.(2449-2451)gTg>gCg	p.V817A	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	817							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTTGTAGATGTGAATAAGCAT	0.308													25	54					0	0	0	0	C	83839815	T	C	83839815	3	2	408	1	0	0	0	0	1	0	0	0	15945	1696	59	5	2468	5	THAP9	4	83839815	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	120152	83839815	107314461	931	78749											
COPS4	51138	broad.mit.edu	37	chr4	83978433	83978433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctatgcacgtgttcttgAttatagaagaaaattcattg	13	15	8	5	1	2	3	1	1	1	2	2	3	2	3	0	0	2	3	0	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:83978433A>T	ENST00000509093.1	+	6	1365	c.587A>T	c.(586-588)gAt>gTt	p.D196V	COPS4_ENST00000264389.2_Missense_Mutation_p.D196V|COPS4_ENST00000511653.1_Missense_Mutation_p.D196V|COPS4_ENST00000503682.1_Missense_Mutation_p.D196V	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	196					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CGTGTTCTTGATTATAGAAGA	0.348													6	73					0	0	0	0	T	83978433	A	T	83978433	3	4	408	1	0	0	0	0	1	0	0	0	3765	333	12	5	609	5	COPS4	4	83978433	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	138618	83978433	107175843	932	78750											
PLAC8	51316	broad.mit.edu	37	chr4	84026117	84026117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacacagacagcattcatTcatatcagctgcaacttgac	13	10	5	13	0	3	2	3	1	0	1	4	2	4	2	1	0	4	3	1	0	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:84026117T>C	ENST00000426923.2	-	3	253	c.175A>G	c.(175-177)Aat>Gat	p.N59D	PLAC8_ENST00000311507.4_Missense_Mutation_p.N59D|PLAC8_ENST00000411416.2_Missense_Mutation_p.N59D|PLAC8_ENST00000509973.1_Missense_Mutation_p.N2D|PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000505406.1_Missense_Mutation_p.N59D	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	59										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CAGCATTCATTCATATCAGCT	0.488													38	67					0	0	0	0	C	84026117	T	C	84026117	3	2	408	1	0	0	0	0	1	0	0	0	12087	1783	62	5	180	5	PLAC8	4	84026117	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	47684	84026117	107128159	933	78751											
HPSE	10855	broad.mit.edu	37	chr4	84223312	84223312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatacttacttgtcagtgTttgtgcaatgaaggtatact	10	17	8	6	0	2	1	2	1	0	0	2	1	2	1	0	1	4	3	0	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:84223312T>C	ENST00000405413.2	-	11	1452	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	HPSE_ENST00000512196.1_Missense_Mutation_p.N365S|HPSE_ENST00000311412.5_Missense_Mutation_p.N439S|HPSE_ENST00000513463.1_Missense_Mutation_p.N381S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	439					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CTTGTCAGTGTTTGTGCAATG	0.413													21	68					0	0	0	0	C	84223312	T	C	84223312	3	2	408	1	0	0	0	0	1	0	0	0	7394	1725	60	5	327	5	HPSE	4	84223312	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	197195	84223312	106930964	934	78752											
FAM175A	84142	broad.mit.edu	37	chr4	84390289	84390289	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattggcaaccactaaaggTaccctgtgaaaaagtctgac	15	8	9	9	0	1	3	0	2	1	1	1	3	1	3	2	2	2	2	2	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:84390289T>C	ENST00000321945.7	-	6	600	c.492A>G	c.(490-492)gtA>gtG	p.V164V	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Silent_p.V115V	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	164					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CCACTAAAGGTACCCTGTGAA	0.383													35	99					0	0	0	0	C	84390289	T	C	84390289	2	2	408	1	0	0	0	0	0	0	0	1	5538	1625	57	5		5	FAM175A	4	84390289	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	166977	84390289	106763987	935	78753											
CDS1	1040	broad.mit.edu	37	chr4	85530594	85530594	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttgtaggtggaaaaactgGtggatacgtggaattctcac	11	12	12	6	1	1	0	1	0	1	0	2	3	1	3	0	5	2	1	0	5	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:85530594G>A	ENST00000295887.5	+	3	681	c.258G>A	c.(256-258)tgG>tgA	p.W86*		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	86					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GGAAAAACTGGTGGATACGTG	0.333													21	64					0	0	0	0	A	85530594	G	A	85530594	4	1	408	1	0	0	0	0	0	1	0	0	3206	1270	44	4	268	4	CDS1	4	85530594	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1140305	85530594	105623682	936	78754											
WDFY3	23001	broad.mit.edu	37	chr4	85617976	85617976	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgccattttgtttacagCctatgcaattggatacatta	10	16	8	7	0	0	0	0	0	0	0	0	1	0	1	2	2	5	2	2	2	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:85617976C>T	ENST00000322366.6	-	56	8953	c.8545_splice	c.e56-1	p.G2849_splice	WDFY3_ENST00000295888.4_Splice_Site_p.G2866_splice			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2866	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGTTTACAGCCTATGCAATT	0.378													10	42					0	0	0	0	T	85617976	C	T	85617976	5	4	408	1	0	0	0	0	0	0	1	0	17366	753	26	4	2031	4	WDFY3	4	85617976	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	87382	85617976	105536300	937	78755											
PTPN13	5783	broad.mit.edu	37	chr4	87679894	87679894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcatatttatcagttcagTtgcccctggaggaccagctg	9	11	11	10	0	2	0	2	0	0	0	2	2	2	2	3	3	2	4	3	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:87679894T>C	ENST00000436978.1	+	22	3857	c.3377T>C	c.(3376-3378)gTt>gCt	p.V1126A	PTPN13_ENST00000427191.2_Missense_Mutation_p.V1107A|PTPN13_ENST00000411767.2_Missense_Mutation_p.V1126A|PTPN13_ENST00000511467.1_Missense_Mutation_p.V1126A|PTPN13_ENST00000316707.6_Missense_Mutation_p.V935A	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1126	PDZ 1.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCAGTTCAGTTGCCCCTGGA	0.378													34	107					0	0	0	0	C	87679894	T	C	87679894	3	2	408	1	0	0	0	0	1	0	0	0	12862	1725	60	5	3459	5	PTPN13	4	87679894	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2061918	87679894	103474382	938	78756											
HERC3	8916	broad.mit.edu	37	chr4	89589132	89589132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatctatttaatactaccTgagtttcccctactccagga	12	13	5	11	0	1	2	0	1	1	1	3	3	3	3	4	1	3	1	4	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:89589132T>C	ENST00000402738.1	+	14	1772	c.1533T>C	c.(1531-1533)ccT>ccC	p.P511P	HERC3_ENST00000264345.3_Silent_p.P511P|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	511					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TAATACTACCTGAGTTTCCCC	0.418													39	116					0	0	0	0	C	89589132	T	C	89589132	2	2	408	1	0	0	0	0	0	0	0	1	7109	1567	55	5		5	HERC3	4	89589132	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1909238	89589132	101565144	939	78757											
MMRN1	22915	broad.mit.edu	37	chr4	90857093	90857093	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaaagagactttaagtacTattaaggataatagtgagat	18	12	8	3	0	0	2	0	1	0	2	0	5	0	3	0	1	1	1	0	1	8	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:90857093T>C	ENST00000394980.1	+	7	2581	c.2262T>C	c.(2260-2262)acT>acC	p.T754T	MMRN1_ENST00000264790.2_Silent_p.T754T|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.T496T			Q13201	MMRN1_HUMAN	multimerin 1	754					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTTAAGTACTATTAAGGATA	0.323													13	46					0	0	0	0	C	90857093	T	C	90857093	2	2	408	1	0	0	0	0	0	0	0	1	9740	1509	53	5		5	MMRN1	4	90857093	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1267961	90857093	100297183	940	78758											
EIF4E	1977	broad.mit.edu	37	chr4	99809056	99809056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccttaaaaagtgagtagTcacagccaggcattaaatta	17	10	7	7	0	1	1	1	1	0	0	1	1	1	1	2	1	2	2	2	1	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:99809056T>C	ENST00000450253.2	-	4	1793	c.269A>G	c.(268-270)gAc>gGc	p.D90G	EIF4E_ENST00000504432.1_Missense_Mutation_p.D118G|EIF4E_ENST00000280892.6_Missense_Mutation_p.D110G|EIF4E_ENST00000505992.1_Missense_Mutation_p.D90G	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	90					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AAGTGAGTAGTCACAGCCAGG	0.294													8	20					0	0	0	0	C	99809056	T	C	99809056	3	2	408	1	0	0	0	0	1	0	0	0	5066	1667	58	5	497	5	EIF4E	4	99809056	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	8951963	99809056	91345220	941	78759											
BANK1	55024	broad.mit.edu	37	chr4	102981475	102981475	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaagaatgggaaaatgTctatggatgaagctctggag	16	9	13	3	0	2	2	0	1	2	1	2	5	2	5	0	3	1	2	0	3	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:102981475T>A	ENST00000504592.1	+	16	2450	c.2032T>A	c.(2032-2034)Tct>Act	p.S678T	BANK1_ENST00000444316.2_Missense_Mutation_p.S663T|BANK1_ENST00000322953.4_Missense_Mutation_p.S693T|BANK1_ENST00000428908.1_Missense_Mutation_p.S560T|BANK1_ENST00000508653.1_Missense_Mutation_p.S560T			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	693					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGGGAAAATGTCTATGGATGA	0.453													26	84					0	0	0	0	A	102981475	T	A	102981475	3	1	408	1	0	0	0	0	1	0	0	0	1313	1667	58	5	2123	5	BANK1	4	102981475	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3172419	102981475	88172801	942	78760											
CENPE	1062	broad.mit.edu	37	chr4	104041313	104041313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttaagttacctgaagtaCttgaattgtctcttttgttt	8	21	7	5	0	1	2	0	2	1	0	2	2	1	2	1	0	2	4	1	0	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:104041313C>T	ENST00000265148.3	-	44	7410	c.7321G>A	c.(7321-7323)Gta>Ata	p.V2441I	CENPE_ENST00000380026.3_Missense_Mutation_p.V2320I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2441	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACCTGAAGTACTTGAATTGTC	0.313													6	11					0	0	0	0	T	104041313	C	T	104041313	3	4	408	1	0	0	0	0	1	0	0	0	3259	565	20	4	808	4	CENPE	4	104041313	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1059838	104041313	87112963	943	78761											
INTS12	57117	broad.mit.edu	37	chr4	106604001	106604001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaagggatgctgagggagaGctgctggattctgaagtagt	10	11	16	4	0	1	3	0	2	1	1	1	6	1	5	0	3	3	4	0	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:106604001G>A	ENST00000451321.2	-	7	1757	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	INTS12_ENST00000394735.1_Silent_p.S426S|INTS12_ENST00000340139.5_Silent_p.S426S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	426	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTGAGGGAGAGCTGCTGGATT	0.458													46	179					0	0	0	0	A	106604001	G	A	106604001	2	1	408	1	0	0	0	0	0	0	0	1	7830	962	34	4		4	INTS12	4	106604001	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2562688	106604001	84550275	944	78762											
HADH	3033	broad.mit.edu	37	chr4	108935639	108935639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatagcgaccagcacggAtgcagcctccgttgtccaca	10	6	9	16	3	0	0	0	0	0	0	2	2	2	1	5	1	4	3	5	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:108935639A>G	ENST00000505878.1	+	4	599	c.326A>G	c.(325-327)gAt>gGt	p.D109G	HADH_ENST00000454409.2_Missense_Mutation_p.D109G|HADH_ENST00000403312.1_Missense_Mutation_p.D164G|HADH_ENST00000309522.3_Missense_Mutation_p.D105G|HADH_ENST00000603302.1_Missense_Mutation_p.D105G			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	105					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	ACCAGCACGGATGCAGCCTCC	0.527													41	143					0	0	0	0	G	108935639	A	G	108935639	3	3	408	1	0	0	0	0	1	0	0	0	6992	333	12	5	324	5	HADH	4	108935639	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2331638	108935639	82218637	945	78763											
CASP6	839	broad.mit.edu	37	chr4	110618836	110618836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctggcagtgttaagtGccaaaagaacctctcatgat	11	12	8	10	0	2	2	1	1	2	1	3	2	2	2	3	1	2	2	3	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:110618836G>A	ENST00000265164.2	-	3	249	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	CASP6_ENST00000505486.1_Missense_Mutation_p.H58Y|CASP6_ENST00000352981.3_Intron	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	58					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		AGTGTTAAGTGCCAAAAGAAC	0.428													14	55					0	0	0	0	A	110618836	G	A	110618836	3	1	408	1	0	0	0	0	1	0	0	0	2700	1319	46	4	729	4	CASP6	4	110618836	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1683197	110618836	80535440	946	78764											
ALPK1	80216	broad.mit.edu	37	chr4	113348757	113348757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctaggtatactggcagAcatctttgtttccatgagca	9	13	10	9	1	1	2	0	1	1	1	3	2	2	2	1	2	2	5	1	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:113348757A>T	ENST00000458497.1	+	9	1010	c.731A>T	c.(730-732)gAc>gTc	p.D244V	ALPK1_ENST00000177648.9_Missense_Mutation_p.D244V|ALPK1_ENST00000504176.2_Missense_Mutation_p.D166V	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	244							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ATACTGGCAGACATCTTTGTT	0.398													19	46					0	0	0	0	T	113348757	A	T	113348757	3	4	408	1	0	0	0	0	1	0	0	0	544	275	10	5	757	5	ALPK1	4	113348757	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2729921	113348757	77805519	947	78765											
ANK2	287	broad.mit.edu	37	chr4	114294295	114294295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtcacagaagaagaatAcattgatgagcatggacaca	19	6	9	7	0	1	5	1	2	0	3	1	6	1	6	0	1	3	1	0	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:114294295A>G	ENST00000357077.4	+	44	11713	c.11660A>G	c.(11659-11661)tAc>tGc	p.Y3887C	ANK2_ENST00000509550.1_Missense_Mutation_p.Y978C|ANK2_ENST00000264366.6_Missense_Mutation_p.Y3854C|ANK2_ENST00000506722.1_Missense_Mutation_p.Y1793C|ANK2_ENST00000510275.2_Missense_Mutation_p.Y485C|ANK2_ENST00000394537.3_Missense_Mutation_p.Y1802C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3854					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAGAAGAATACATTGATGAG	0.403													51	137					0	0	0	0	G	114294295	A	G	114294295	3	3	408	1	0	0	0	0	1	0	0	0	621	391	14	5	11899	5	ANK2	4	114294295	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	945538	114294295	76859981	948	78766											
SYNPO2	171024	broad.mit.edu	37	chr4	119951959	119951959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagatgagaggatctcagtgCcagcaaaaagaacaggaata	18	5	12	6	0	1	3	1	1	1	3	2	7	1	5	1	2	3	1	1	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:119951959C>T	ENST00000307142.4	+	4	2225	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	SYNPO2_ENST00000434046.2_Missense_Mutation_p.P677S|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P677S|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	677						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			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						GATCTCAGTGCCAGCAAAAAG	0.517													12	70					0	0	0	0	T	119951959	C	T	119951959	3	4	408	1	0	0	0	0	1	0	0	0	15548	739	26	4	2043	4	SYNPO2	4	119951959	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5657664	119951959	71202317	949	78767											
PRDM5	11107	broad.mit.edu	37	chr4	121706189	121706189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtctctgtaaagaaaatgGggtccggaacaaagctttac	13	10	11	7	1	1	1	0	0	1	1	3	2	2	2	1	3	3	2	1	3	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:121706189G>T	ENST00000264808.3	-	11	1486	c.1246C>A	c.(1246-1248)Cca>Aca	p.P416T	PRDM5_ENST00000515109.1_Missense_Mutation_p.P385T|PRDM5_ENST00000428209.2_Missense_Mutation_p.P385T	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	416					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAGAAAATGGGGTCCGGAAC	0.403													4	80					0.00024832	0.000251724	1	0	T	121706189	G	T	121706189	3	4	408	1	0	0	0	0	1	0	0	0	12540	1232	43	4	670	4	PRDM5	4	121706189	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1754230	121706189	69448087	950	78768											
TNIP3	79931	broad.mit.edu	37	chr4	122068279	122068280	+	Frame_Shift_Del	DEL	TC	TC	-																															tcctctttctcttgattaagTctctctcgatccgatcgttc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:122068279_122068280delTC	ENST00000454328.1	-	9	886_887	c.659_660delGA	c.(658-660)afs	p.R220fs	TNIP3_ENST00000057513.3_Frame_Shift_Del_p.R220fs|TNIP3_ENST00000507879.1_Frame_Shift_Del_p.R290fs|TNIP3_ENST00000509841.1_Frame_Shift_Del_p.R297fs|TNIP3_ENST00000511909.1_5'UTR			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	220										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTTGATTAAGTCTCTCTCGATC	0.376													18	108	---	---	---	---					-	122068280	TC	-	122068279	7	5	408	1	0	1	0	1	0	0	0	0	16410	1664	58	0	337	0	TNIP3	4	122068279	Frame_Shift_Del	DEL	TC	TCGA-F7-A624-01A-22D-A30E-08	362090	122068279	69085997	951	78769											
CCNA2	890	broad.mit.edu	37	chr4	122739319	122739319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtatatccagtctttcgtAttaatgattcaggctacaga	11	14	9	7	1	2	2	1	1	1	1	4	2	3	2	1	2	1	3	1	2	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:122739319A>T	ENST00000274026.5	-	7	1433	c.1130T>A	c.(1129-1131)aTa>aAa	p.I377K		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	377					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						AGTCTTTCGTATTAATGATTC	0.408													4	179					0	0	0	0	T	122739319	A	T	122739319	3	4	408	1	0	0	0	0	1	0	0	0	2939	449	16	5	176	5	CCNA2	4	122739319	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	671040	122739319	68414957	952	78770											
KIAA1109	84162	broad.mit.edu	37	chr4	123195575	123195575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgtgctgcttgaagggAttacaccaaatatacagtaa	15	12	8	6	0	0	1	0	1	0	0	0	2	0	2	1	1	4	3	1	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:123195575A>G	ENST00000264501.4	+	49	8897	c.8524A>G	c.(8524-8526)Att>Gtt	p.I2842V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I2842V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I2842V			Q2LD37	K1109_HUMAN	KIAA1109	2842					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTTGAAGGGATTACACCAAA	0.299													14	62					0	0	0	0	G	123195575	A	G	123195575	3	3	408	1	0	0	0	0	1	0	0	0	8259	333	12	5	8710	5	KIAA1109	4	123195575	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	456256	123195575	67958701	953	78771											
ADAD1	132612	broad.mit.edu	37	chr4	123301398	123301398	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggttacgcaagtaacgggTacgacttttttcatttgtaa	12	14	9	6	3	1	0	1	0	0	0	1	1	1	0	0	2	3	5	0	2	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:123301398T>C	ENST00000296513.2	+	3	357		c.e3+2		ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGTAACGGGTACGACTTTTT	0.438													26	62					0	0	0	0	C	123301398	T	C	123301398	5	2	408	1	0	0	0	0	0	0	1	0	231	1652	57	5	176	5	ADAD1	4	123301398	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	105823	123301398	67852878	954	78772											
ADAD1	132612	broad.mit.edu	37	chr4	123314804	123314804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actagcatatgtttcaaaagTacattatggtaggaaagttt	15	14	8	4	0	1	0	1	0	0	0	1	1	1	1	0	2	2	5	0	2	8	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:123314804T>C	ENST00000296513.2	+	6	775	c.590T>C	c.(589-591)gTa>gCa	p.V197A	ADAD1_ENST00000388725.2_Missense_Mutation_p.V179A|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.V197A	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	197					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTTCAAAAGTACATTATGGT	0.318													8	44					0	0	0	0	C	123314804	T	C	123314804	3	2	408	1	0	0	0	0	1	0	0	0	231	1638	57	5	604	5	ADAD1	4	123314804	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	13406	123314804	67839472	955	78773											
FAT4	79633	broad.mit.edu	37	chr4	126373315	126373315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggataacagcatcttacTtcgtctcggcgtaccaacag	11	10	9	11	3	2	0	0	0	2	0	4	1	2	1	1	2	5	2	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:126373315T>C	ENST00000394329.3	+	9	11157	c.11144T>C	c.(11143-11145)cTt>cCt	p.L3715P	FAT4_ENST00000335110.5_Missense_Mutation_p.L2013P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3715					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCATCTTACTTCGTCTCGGC	0.468													7	171					0	0	0	0	C	126373315	T	C	126373315	3	2	408	1	0	0	0	0	1	0	0	0	5737	1609	56	5	11178	5	FAT4	4	126373315	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3058511	126373315	64780961	956	78774											
SLC25A31	83447	broad.mit.edu	37	chr4	128688369	128688369	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttggagcttatgacacAgttaaggtaatctgggggct	10	14	12	5	0	1	1	0	1	1	0	1	2	1	2	0	4	1	4	0	4	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:128688369A>G	ENST00000281154.4	+	4	795	c.627A>G	c.(625-627)acA>acG	p.T209T		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	209					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CTTATGACACAGTTAAGGTAA	0.338													12	142					0	0	0	0	G	128688369	A	G	128688369	2	3	408	1	0	0	0	0	0	0	0	1	14583	175	7	5		5	SLC25A31	4	128688369	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2315054	128688369	62465907	957	78775											
HSPA4L	22824	broad.mit.edu	37	chr4	128724902	128724902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgaaagaaaactctcGggccttgttgcgtttatatc	12	13	9	7	2	1	2	0	1	1	1	3	2	1	2	1	1	2	2	1	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:128724902G>A	ENST00000296464.3	+	7	1193	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	HSPA4L_ENST00000505726.1_Missense_Mutation_p.R235Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.R292Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.R261Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	261					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAAAACTCTCGGGCCTTGTTG	0.373													19	55					0	0	0	0	A	128724902	G	A	128724902	3	1	408	1	0	0	0	0	1	0	0	0	7465	1116	39	1	808	1	HSPA4L	4	128724902	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	36533	128724902	62429374	958	78776											
SCLT1	132320	broad.mit.edu	37	chr4	129869675	129869675	+	Frame_Shift_Del	DEL	T	T	-																															tctagttcttcttccactgcTtttttttccttaatgactcg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:129869675delT	ENST00000281142.5	-	15	1772	c.1269delA	c.(1267-1269)aafs	p.K423fs	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	423						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTTCCACTGCTTTTTTTTCCT	0.328													12	54	---	---	---	---					-	129869675	T	-	129869675	7	5	408	1	0	1	0	1	0	0	0	0	13993	1606	56	0	825	0	SCLT1	4	129869675	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1144773	129869675	61284601	959	78777											
PCDH10	57575	broad.mit.edu	37	chr4	134071473	134071473	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagacggtgcccaactcaAggaccccttacttagacctc	10	9	7	15	1	2	2	2	0	0	2	3	3	2	3	4	2	3	0	4	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:134071473A>G	ENST00000264360.4	+	1	1004	c.178A>G	c.(178-180)Agg>Ggg	p.R60G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	60	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCAACTCAAGGACCCCTTA	0.527													5	168					0	0	0	0	G	134071473	A	G	134071473	3	3	408	1	0	0	0	0	1	0	0	0	11578	63	3	5	180	5	PCDH10	4	134071473	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4201798	134071473	57082803	960	78778											
PCDH10	57575	broad.mit.edu	37	chr4	134073690	134073690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccaatgtacccagtaacCcggcccaggtgccgatagag	10	6	11	14	2	0	1	0	0	0	1	1	2	1	1	5	2	3	3	5	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:134073690C>T	ENST00000264360.4	+	1	3221	c.2395C>T	c.(2395-2397)Ccg>Tcg	p.P799S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	799					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACCCAGTAACCCGGCCCAGGT	0.602													3	39					0	0	0	0	T	134073690	C	T	134073690	3	4	408	1	0	0	0	0	1	0	0	0	11578	623	22	4	2397	4	PCDH10	4	134073690	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2217	134073690	57080586	961	78779											
NAA15	80155	broad.mit.edu	37	chr4	140297593	140297593	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaacaagatagagacTcatctttttgcctttgagat	13	13	9	6	0	2	5	1	2	1	4	2	7	2	5	1	0	2	0	1	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:140297593T>C	ENST00000296543.5	+	16	2345	c.2022T>C	c.(2020-2022)acT>acC	p.T674T	NAA15_ENST00000398947.1_Silent_p.T674T	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	674					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGATAGAGACTCATCTTTTTG	0.348													5	77					0	0	0	0	C	140297593	T	C	140297593	2	2	408	1	0	0	0	0	0	0	0	1	10188	1538	54	5		5	NAA15	4	140297593	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	6223903	140297593	50856683	962	78780											
GAB1	2549	broad.mit.edu	37	chr4	144354770	144354770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctccatatcagctaaTcaatgttccaccacacctgg	11	10	4	16	0	2	0	2	0	0	0	5	0	5	0	6	1	1	2	6	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:144354770T>C	ENST00000262995.4	+	3	921	c.494T>C	c.(493-495)aTc>aCc	p.I165T	GAB1_ENST00000262994.4_Missense_Mutation_p.I165T|GAB1_ENST00000505913.1_Missense_Mutation_p.I62T	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	165					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TATCAGCTAATCAATGTTCCA	0.478													5	117					0	0	0	0	C	144354770	T	C	144354770	3	2	408	1	0	0	0	0	1	0	0	0	6196	1435	50	5	504	5	GAB1	4	144354770	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4057177	144354770	46799506	963	78781											
HHIP	64399	broad.mit.edu	37	chr4	145580835	145580835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaggttgtgagtgggCtgcggcagcccgttggtgcc	4	10	18	9	2	1	1	1	1	0	0	1	2	1	2	2	5	3	4	2	5	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:145580835C>T	ENST00000296575.3	+	4	1331	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	HHIP_ENST00000434550.2_Silent_p.L226L|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	226						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGTGAGTGGGCTGCGGCAGCC	0.463													5	211					0	0	0	0	T	145580835	C	T	145580835	2	4	408	1	0	0	0	0	0	0	0	1	7142	796	28	4		4	HHIP	4	145580835	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1226065	145580835	45573441	964	78782											
ABCE1	6059	broad.mit.edu	37	chr4	146031549	146031549	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgggatctattttggAccgaaaagatgaaacaaaga	17	8	11	5	1	1	3	0	1	1	2	1	7	1	5	1	2	1	0	1	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:146031549A>C	ENST00000296577.4	+	7	1081	c.566A>C	c.(565-567)gAc>gCc	p.D189A	ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	189	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TCTATTTTGGACCGAAAAGAT	0.299													40	102					0	0	0	0	C	146031549	A	C	146031549	3	2	408	1	0	0	0	0	1	0	0	0	64	275	10	5	588	5	ABCE1	4	146031549	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	450714	146031549	45122727	965	78783											
ABCE1	6059	broad.mit.edu	37	chr4	146033465	146033465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctattactatacgatctcTaataaatccagataggtaag	15	13	6	7	1	1	1	0	0	1	1	3	2	2	1	1	1	3	2	1	1	9	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:146033465T>C	ENST00000296577.4	+	9	1300	c.785T>C	c.(784-786)cTa>cCa	p.L262P	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	262	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATACGATCTCTAATAAATCCA	0.328													8	13					0	0	0	0	C	146033465	T	C	146033465	3	2	408	1	0	0	0	0	1	0	0	0	64	1522	53	5	815	5	ABCE1	4	146033465	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1916	146033465	45120811	966	78784											
OTUD4	54726	broad.mit.edu	37	chr4	146059009	146059010	+	Frame_Shift_Del	DEL	TC	TC	-																															caagttcaacaggcacagttTctctctctctgtttagaatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:146059009_146059010delTC	ENST00000454497.2	-	21	2859_2860	c.2722_2723delGA	c.(2722-2724)afs	p.E908fs	OTUD4_ENST00000447906.2_Frame_Shift_Del_p.E973fs|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	972							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGGCACAGTTTCTCTCTCTCTG	0.455													60	208	---	---	---	---					-	146059010	TC	-	146059009	7	5	408	1	0	1	0	1	0	0	0	0	11385	1783	62	0	430	0	OTUD4	4	146059009	Frame_Shift_Del	DEL	TC	TCGA-F7-A624-01A-22D-A30E-08	25544	146059009	45095267	967	78785											
ZNF827	152485	broad.mit.edu	37	chr4	146807025	146807025	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaccagcaaaggcgAgacgccagcccctccctggc	8	5	9	19	2	1	1	1	0	0	1	3	2	3	1	6	2	2	1	6	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:146807025A>G	ENST00000508784.1	-	4	1779	c.1552T>C	c.(1552-1554)Tcg>Ccg	p.S518P	ZNF827_ENST00000379448.4_Missense_Mutation_p.S518P|ZNF827_ENST00000513320.1_Missense_Mutation_p.S168P			Q17R98	ZN827_HUMAN	zinc finger protein 827	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCAAAGGCGAGACGCCAGCC	0.587													23	92					0	0	0	0	G	146807025	A	G	146807025	3	3	408	1	0	0	0	0	1	0	0	0	18273	304	11	5	1721	5	ZNF827	4	146807025	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	748016	146807025	44347251	968	78786											
LRBA	987	broad.mit.edu	37	chr4	151520221	151520221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctagagggttacgcacaAatcgtcgccggcgccgcaag	10	6	12	13	6	0	1	0	0	0	1	3	1	1	1	3	2	1	3	3	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:151520221A>G	ENST00000535741.1	-	38	6457	c.5984T>C	c.(5983-5985)tTt>tCt	p.F1995S	LRBA_ENST00000510413.1_Missense_Mutation_p.F1995S|LRBA_ENST00000507224.1_Missense_Mutation_p.F1995S|LRBA_ENST00000357115.3_Missense_Mutation_p.F1995S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1995						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTTACGCACAAATCGTCGCCG	0.488													34	92					0	0	0	0	G	151520221	A	G	151520221	3	3	408	1	0	0	0	0	1	0	0	0	8995	14	1	5	2691	5	LRBA	4	151520221	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4713196	151520221	39634055	969	78787											
LRBA	987	broad.mit.edu	37	chr4	151770123	151770123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttctattgaaaggccttGagtaggttcaatattttcca	10	15	9	7	0	2	2	1	2	1	0	3	2	3	2	2	3	0	3	2	3	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:151770123G>C	ENST00000535741.1	-	26	4659	c.4186C>G	c.(4186-4188)Caa>Gaa	p.Q1396E	LRBA_ENST00000510413.1_Missense_Mutation_p.Q1396E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q1396E|LRBA_ENST00000357115.3_Missense_Mutation_p.Q1396E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1396						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAAAGGCCTTGAGTAGGTTCA	0.313													42	111					0	0	0	0	C	151770123	G	C	151770123	3	2	408	1	0	0	0	0	1	0	0	0	8995	1299	45	2	4537	2	LRBA	4	151770123	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	249902	151770123	39384153	970	78788											
TIGD4	201798	broad.mit.edu	37	chr4	153691769	153691769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacgatccagccaaccatTactgcacttaaaatcattat	17	10	3	11	1	1	0	1	0	0	0	2	1	2	0	3	0	5	1	3	0	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:153691769T>C	ENST00000304337.2	-	2	1208	c.388A>G	c.(388-390)Aat>Gat	p.N130D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	130	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGCCAACCATTACTGCACTTA	0.413													23	86					0	0	0	0	C	153691769	T	C	153691769	3	2	408	1	0	0	0	0	1	0	0	0	15992	1754	61	5	1154	5	TIGD4	4	153691769	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1921646	153691769	37462507	971	78789											
FHDC1	85462	broad.mit.edu	37	chr4	153897502	153897502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagagcccaagacccCgtcagtgcccagcgtccccc	11	3	9	18	2	1	3	1	0	0	3	2	3	2	3	6	0	3	0	6	0	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:153897502C>T	ENST00000511601.1	+	12	3247	c.3059C>T	c.(3058-3060)cCg>cTg	p.P1020L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P1020L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1020					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCCAAGACCCCGTCAGTGCCC	0.607													28	112					0	0	0	0	T	153897502	C	T	153897502	3	4	408	1	0	0	0	0	1	0	0	0	5921	652	23	1	3101	1	FHDC1	4	153897502	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	205733	153897502	37256774	972	78790											
DCHS2	54798	broad.mit.edu	37	chr4	155219642	155219642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcagcatcttctctcaCagaggactggtaataaagtg	12	11	8	10	0	4	1	2	0	2	1	5	2	4	2	0	2	1	2	0	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155219642C>T	ENST00000357232.3	-	18	4458	c.4459G>A	c.(4459-4461)Gtg>Atg	p.V1487M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1487	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTTCTCTCACAGAGGACTGG	0.463													50	145					0	0	0	0	T	155219642	C	T	155219642	3	4	408	1	0	0	0	0	1	0	0	0	4320	478	17	4	4323	4	DCHS2	4	155219642	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1322140	155219642	35934634	973	78791											
DCHS2	54798	broad.mit.edu	37	chr4	155253915	155253915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttgggtggattcatagtCaaactgtcgccgcaaataaa	12	12	10	7	2	2	0	2	0	0	0	3	1	2	1	1	2	1	2	1	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155253915C>G	ENST00000357232.3	-	9	1947	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	DCHS2_ENST00000339452.1_Missense_Mutation_p.D1149H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	650	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATTCATAGTCAAACTGTCGC	0.483													29	100					0	0	0	0	G	155253915	C	G	155253915	3	3	408	1	0	0	0	0	1	0	0	0	4320	826	29	2	6966	2	DCHS2	4	155253915	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	34273	155253915	35900361	974	78792											
FGB	2244	broad.mit.edu	37	chr4	155490896	155490896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggagaaaacaggaccAtgaccattcacaacggcatg	15	6	11	9	1	1	3	1	2	0	1	1	5	1	4	2	3	2	1	2	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155490896A>G	ENST00000302068.4	+	7	1252	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	FGB_ENST00000509493.1_Missense_Mutation_p.M178V|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	397	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAACAGGACCATGACCATTCA	0.458													22	61					0	0	0	0	G	155490896	A	G	155490896	3	3	408	1	0	0	0	0	1	0	0	0	5876	217	8	5	1215	5	FGB	4	155490896	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	236981	155490896	35663380	975	78793											
FGA	2243	broad.mit.edu	37	chr4	155510012	155510012	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaacgaatgagaatccttAttgttcttctgatattcaaa	13	15	6	7	1	4	2	2	2	2	1	5	4	5	2	1	0	1	1	1	0	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155510012A>T	ENST00000302053.3	-	3	375	c.297T>A	c.(295-297)aaT>aaA	p.N99K	FGA_ENST00000403106.3_Missense_Mutation_p.N99K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	99					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGAATCCTTATTGTTCTTCT	0.318													34	103					0	0	0	0	T	155510012	A	T	155510012	3	4	408	1	0	0	0	0	1	0	0	0	5875	446	16	5	2363	5	FGA	4	155510012	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	19116	155510012	35644264	976	78794											
RBM46	166863	broad.mit.edu	37	chr4	155720164	155720164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttttcaaccgagaagatGcagtggctgccatgtctgtt	9	13	10	9	1	2	2	1	0	1	2	2	3	2	2	2	1	3	3	2	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155720164G>A	ENST00000510397.1	+	4	1029	c.850G>A	c.(850-852)Gca>Aca	p.A284T	RBM46_ENST00000514866.1_Missense_Mutation_p.A284T|RBM46_ENST00000281722.3_Missense_Mutation_p.A284T	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	284	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CCGAGAAGATGCAGTGGCTGC	0.363													12	55					0	0	0	0	A	155720164	G	A	155720164	3	1	408	1	0	0	0	0	1	0	0	0	13222	1319	46	4	860	4	RBM46	4	155720164	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	210152	155720164	35434112	977	78795											
FNIP2	57600	broad.mit.edu	37	chr4	159790348	159790348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtgctggagcctgttGcccccaggtgtgtccagcgg	4	9	15	13	1	0	0	0	0	0	0	1	2	1	1	5	3	4	2	5	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:159790348G>A	ENST00000264433.6	+	13	2635	c.2560G>A	c.(2560-2562)Gcc>Acc	p.A854T	FNIP2_ENST00000379346.3_Missense_Mutation_p.A877T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	854	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGAGCCTGTTGCCCCCAGGTG	0.617													4	123					0	0	0	0	A	159790348	G	A	159790348	3	1	408	1	0	0	0	0	1	0	0	0	6021	1319	46	4	2610	4	FNIP2	4	159790348	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4070184	159790348	31363928	978	78796											
NPY5R	4889	broad.mit.edu	37	chr4	164271697	164271697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctgatatcttggttgTgctgttttgctcacctttca	4	21	7	9	0	4	1	2	1	2	0	4	1	4	1	1	1	2	4	1	1	1	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:164271697T>C	ENST00000515560.1	+	4	1794	c.272T>C	c.(271-273)gTg>gCg	p.V91A	NPY5R_ENST00000506953.1_Missense_Mutation_p.V91A|NPY5R_ENST00000338566.3_Missense_Mutation_p.V91A			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	91					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATCTTGGTTGTGCTGTTTTGC	0.413													65	225					0	0	0	0	C	164271697	T	C	164271697	3	2	408	1	0	0	0	0	1	0	0	0	10681	1696	59	5	274	5	NPY5R	4	164271697	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4481349	164271697	26882579	979	78797											
TKTL2	84076	broad.mit.edu	37	chr4	164394269	164394269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccatccaaaggcttcacaGcaattctggtagatgtctgc	10	12	8	11	0	3	1	1	0	2	1	5	1	5	1	2	2	2	3	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:164394269G>A	ENST00000280605.3	-	1	778	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	206						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGCTTCACAGCAATTCTGGT	0.507													24	75					0	0	0	0	A	164394269	G	A	164394269	2	1	408	1	0	0	0	0	0	0	0	1	16030	963	34	4		4	TKTL2	4	164394269	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	122572	164394269	26760007	980	78798											
DDX60	55601	broad.mit.edu	37	chr4	169173745	169173745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacttcactagattatcaTgttcagcttcatgtattagg	11	15	7	8	0	4	1	4	0	0	1	4	2	4	1	0	1	1	3	0	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169173745T>C	ENST00000393743.3	-	27	3911	c.3620A>G	c.(3619-3621)cAt>cGt	p.H1207R	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1207							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAGATTATCATGTTCAGCTTC	0.358													60	179					0	0	0	0	C	169173745	T	C	169173745	3	2	408	1	0	0	0	0	1	0	0	0	4410	1464	51	5	1566	5	DDX60	4	169173745	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4779476	169173745	21980531	981	78799											
DDX60	55601	broad.mit.edu	37	chr4	169197209	169197209	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaactcatcaaatcctaaaTacttaaggcatctggctatg	14	11	5	11	0	3	0	2	0	1	0	4	0	4	0	2	2	2	2	2	2	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169197209T>A	ENST00000393743.3	-	15	2393	c.2102A>T	c.(2101-2103)tAt>tTt	p.Y701F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	701							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAATCCTAAATACTTAAGGCA	0.363													21	64					0	0	0	0	A	169197209	T	A	169197209	3	1	408	1	0	0	0	0	1	0	0	0	4410	1406	49	5	3132	5	DDX60	4	169197209	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	23464	169197209	21957067	982	78800											
DDX60L	91351	broad.mit.edu	37	chr4	169325133	169325133	+	Splice_Site	DEL	A	A	-																															attaagtttcagttacttacAaaaaaaatattgcaggcaac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169325133delA	ENST00000511577.1	-	25	3585	c.3338_splice	c.e25+1	p.L1113_splice	DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice|DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1113							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGTTACTTACAAAAAAAATAT	0.274													8	14	---	---	---	---					-	169325133	A	-	169325133	8	5	408	1	0	1	0	1	0	0	1	0	4411	144	5	0	1838	0	DDX60L	4	169325133	Splice_Site	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	127924	169325133	21829143	983	78801											
PALLD	23022	broad.mit.edu	37	chr4	169632741	169632741	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccttagccaacactgAaaactgtagttacgagtcaa	13	10	6	12	1	1	1	1	1	0	0	2	2	2	1	3	0	4	2	3	0	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169632741A>T	ENST00000335742.7	+	10	1842	c.485A>T	c.(484-486)gAa>gTa	p.E162V	PALLD_ENST00000512127.1_Missense_Mutation_p.E162V|PALLD_ENST00000261509.6_Missense_Mutation_p.E544V|PALLD_ENST00000505667.1_Missense_Mutation_p.E544V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	544					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCCAACACTGAAAACTGTAGT	0.448									Pancreatic Cancer, Familial Clustering of				14	46					0	0	0	0	T	169632741	A	T	169632741	3	4	408	1	0	0	0	0	1	0	0	0	11478	246	9	5	1665	5	PALLD	4	169632741	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	307608	169632741	21521535	984	78802											
PALLD	23022	broad.mit.edu	37	chr4	169845472	169845472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaggagttgctgatgggtAcccagtgcggctggaatgtc	8	9	15	9	1	0	1	0	1	0	0	1	3	0	3	1	4	3	4	1	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169845472A>G	ENST00000335742.7	+	19	3957	c.2600A>G	c.(2599-2601)tAc>tGc	p.Y867C	CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.Y643C|PALLD_ENST00000507735.1_Missense_Mutation_p.Y538C|PALLD_ENST00000261509.6_Missense_Mutation_p.Y1025C|PALLD_ENST00000505667.1_Missense_Mutation_p.Y1042C			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1249	Interaction with ACTN.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCTGATGGGTACCCAGTGCGG	0.448									Pancreatic Cancer, Familial Clustering of				22	45					0	0	0	0	G	169845472	A	G	169845472	3	3	408	1	0	0	0	0	1	0	0	0	11478	391	14	5	3702	5	PALLD	4	169845472	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	212731	169845472	21308804	985	78803											
NEK1	4750	broad.mit.edu	37	chr4	170322898	170322898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttggctccacatcactgTtcttcaagactgactcttct	8	14	6	13	0	5	2	2	1	3	1	6	2	6	2	1	1	0	3	1	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:170322898T>C	ENST00000439128.2	-	31	4044	c.3404A>G	c.(3403-3405)aAc>aGc	p.N1135S	NEK1_ENST00000512193.1_Missense_Mutation_p.N1066S|NEK1_ENST00000510533.1_Missense_Mutation_p.N1091S|NEK1_ENST00000511633.1_Missense_Mutation_p.N1119S|NEK1_ENST00000507142.1_Missense_Mutation_p.N1163S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1135					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CACATCACTGTTCTTCAAGAC	0.473													7	258					0	0	0	0	C	170322898	T	C	170322898	3	2	408	1	0	0	0	0	1	0	0	0	10391	1725	60	5	388	5	NEK1	4	170322898	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	477426	170322898	20831378	986	78804											
C4orf27	54969	broad.mit.edu	37	chr4	170671806	170671806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcctgttgattttttcttCgttttatgttttccagcaag	6	20	8	7	1	1	1	0	1	1	0	3	1	2	1	2	1	1	4	2	1	2	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:170671806C>T	ENST00000393381.2	-	3	354	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	93						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTTTTTCTTCGTTTTATGTT	0.333													42	152					0	0	0	0	T	170671806	C	T	170671806	2	4	408	1	0	0	0	0	0	0	0	1	2279	871	31	1		1	C4orf27	4	170671806	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	348908	170671806	20482470	987	78805											
GALNTL6	442117	broad.mit.edu	37	chr4	172735823	172735823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgttggtctctggtctctgtAcaaggataagcacctggtga	8	12	12	9	1	2	1	0	1	2	0	4	2	2	2	1	4	2	3	1	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:172735823A>G	ENST00000506823.1	+	2	749	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	GALNTL6_ENST00000511251.1_Missense_Mutation_p.Y31C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	31						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Y31C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGGTCTCTGTACAAGGATAAG	0.493													13	53					0	0	0	0	G	172735823	A	G	172735823	3	3	408	1	0	0	0	0	1	0	0	0	6274	391	14	5	94	5	GALNTL6	4	172735823	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2064017	172735823	18418453	988	78806											
GALNTL6	442117	broad.mit.edu	37	chr4	173961102	173961102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacagaacattattccatCctgtgagcaacagctgcatg	13	9	9	10	0	0	2	0	1	0	1	2	3	2	3	2	1	5	3	2	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:173961102C>A	ENST00000506823.1	+	13	2314	c.1657C>A	c.(1657-1659)Cct>Act	p.P553T	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P536T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	553	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATTATTCCATCCTGTGAGCAA	0.428													15	60					1.45105e-14	1.51837e-14	1	0	A	173961102	C	A	173961102	3	1	408	1	0	0	0	0	1	0	0	0	6274	855	30	2	1703	2	GALNTL6	4	173961102	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1225279	173961102	17193174	989	78807											
GALNT7	51809	broad.mit.edu	37	chr4	174235233	174235233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaatttcgagaagatcAcaactgcaaaagttttaagt	19	10	7	5	1	1	2	1	0	0	2	2	4	1	2	0	0	2	2	0	0	8	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:174235233A>T	ENST00000265000.4	+	9	1597	c.1514A>T	c.(1513-1515)cAc>cTc	p.H505L		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	505					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CGAGAAGATCACAACTGCAAA	0.403													36	97					0	0	0	0	T	174235233	A	T	174235233	3	4	408	1	0	0	0	0	1	0	0	0	6267	159	6	5	1548	5	GALNT7	4	174235233	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	274131	174235233	16919043	990	78808											
GPM6A	2823	broad.mit.edu	37	chr4	176594959	176594959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacgcagctgcgatgcCgtagatcacatacttaaaga	16	7	9	9	3	1	3	1	0	0	3	1	4	1	3	1	0	5	3	1	0	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:176594959C>T	ENST00000280187.7	-	4	304	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	GPM6A_ENST00000515090.1_Missense_Mutation_p.G80S|GPM6A_ENST00000506894.1_Missense_Mutation_p.G76S|GPM6A_ENST00000393658.2_Missense_Mutation_p.G87S	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	87						cell surface|integral to membrane				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)		GCTGCGATGCCGTAGATCACA	0.398													6	40					0	0	0	0	T	176594959	C	T	176594959	3	4	408	1	0	0	0	0	1	0	0	0	6664	652	23	1	597	1	GPM6A	4	176594959	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2359726	176594959	14559317	991	78809											
WDR17	116966	broad.mit.edu	37	chr4	177046431	177046431	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttgcataacaacatttAatcttcccagtgcagcagct	11	14	5	11	0	2	0	0	0	2	0	3	0	3	0	1	0	6	4	1	0	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:177046431A>T	ENST00000393643.2	+	5	967	c.715A>T	c.(715-717)Aat>Tat	p.N239Y	WDR17_ENST00000508596.1_Missense_Mutation_p.N239Y|WDR17_ENST00000280190.4_Missense_Mutation_p.N263Y|WDR17_ENST00000507824.2_Missense_Mutation_p.N246Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	263										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AACAACATTTAATCTTCCCAG	0.438													35	92					0	0	0	0	T	177046431	A	T	177046431	3	4	408	1	0	0	0	0	1	0	0	0	17373	362	13	5	805	5	WDR17	4	177046431	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	451472	177046431	14107845	992	78810											
STOX2	56977	broad.mit.edu	37	chr4	184930607	184930607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgctgcagagaagacGtgcacagcacgcatgcaccc	11	4	11	15	2	0	2	0	0	0	2	0	3	0	2	2	0	5	6	2	0	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:184930607G>A	ENST00000308497.4	+	3	2051	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	STOX2_ENST00000438269.1_Missense_Mutation_p.V206M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	206					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAGAAGACGTGCACAGCAC	0.592													28	92					0	0	0	0	A	184930607	G	A	184930607	3	1	408	1	0	0	0	0	1	0	0	0	15410	1145	40	1	626	1	STOX2	4	184930607	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	7884176	184930607	6223669	993	78811											
KIAA1430	57587	broad.mit.edu	37	chr4	186111712	186111712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggtgacaggagggttatAccagatacatgtttcttaga	11	14	11	5	0	1	3	0	1	1	2	1	4	1	4	1	3	2	2	1	3	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:186111712A>G	ENST00000458385.2	-	2	758	c.639T>C	c.(637-639)ggT>ggC	p.G213G	KIAA1430_ENST00000296775.6_Silent_p.G213G|KIAA1430_ENST00000514798.1_Silent_p.G213G	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	213	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGAGGGTTATACCAGATACAT	0.418													6	33					0	0	0	0	G	186111712	A	G	186111712	2	3	408	1	0	0	0	0	0	0	0	1	8283	378	14	5		5	KIAA1430	4	186111712	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1181105	186111712	5042564	994	78812											
SNX25	83891	broad.mit.edu	37	chr4	186185657	186185657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactcagatgatgaagtaaGatttctacaaacgtgttctc	14	12	8	7	1	3	4	1	2	2	2	4	5	3	4	0	0	3	2	0	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:186185657G>A	ENST00000504273.1	+	4	599	c.305G>A	c.(304-306)aGa>aAa	p.R102K	SNX25_ENST00000264694.8_Missense_Mutation_p.R102K			Q9H3E2	SNX25_HUMAN	sorting nexin 25	102	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GATGAAGTAAGATTTCTACAA	0.413													6	98					0	0	0	0	A	186185657	G	A	186185657	3	1	408	1	0	0	0	0	1	0	0	0	14984	942	33	2	315	2	SNX25	4	186185657	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	73945	186185657	4968619	995	78813											
PDLIM3	27295	broad.mit.edu	37	chr4	186423556	186423556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctatgaagaagtagcccttTtgcttgaggttgaggttgca	9	14	12	6	0	1	4	0	3	1	1	1	4	1	4	1	2	3	5	1	2	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:186423556T>C	ENST00000284770.5	-	8	1060	c.987A>G	c.(985-987)caA>caG	p.Q329Q	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.Q281Q	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	329	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		AGTAGCCCTTTTGCTTGAGGT	0.567													46	133					0	0	0	0	C	186423556	T	C	186423556	2	2	408	1	0	0	0	0	0	0	0	1	11752	1838	64	5		5	PDLIM3	4	186423556	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	237899	186423556	4730720	996	78814											
SORBS2	8470	broad.mit.edu	37	chr4	186545479	186545479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctccagatttctgcGttttgccgggccatttgcca	4	14	11	12	2	1	1	0	0	1	1	2	1	2	1	4	1	5	3	4	1	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:186545479G>A	ENST00000431808.1	-	14	1655	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000284776.7_Silent_p.N364N|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	364						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATTTCTGCGTTTTGCCGGG	0.517													13	55					0	0	0	0	A	186545479	G	A	186545479	2	1	408	1	0	0	0	0	0	0	0	1	15016	1136	40	1		1	SORBS2	4	186545479	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	121923	186545479	4608797	997	78815											
FAT1	2195	broad.mit.edu	37	chr4	187542754	187542754	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtaaacttcggagaggcGttgtcagcaattgtgacaaa	13	10	12	6	2	1	2	1	1	0	1	2	4	1	2	0	2	2	3	0	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:187542754G>A	ENST00000441802.2	-	10	5195	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1662	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGGAGAGGCGTTGTCAGCAA	0.408										HNSCC(5;0.00058)			12	65					0	0	0	0	A	187542754	G	A	187542754	2	1	408	1	0	0	0	0	0	0	0	1	5734	1136	40	1		1	FAT1	4	187542754	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	997275	187542754	3611522	998	78816											
FAT1	2195	broad.mit.edu	37	chr4	187629423	187629423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccaggttttctgacgtaCtcacggcaccagtgaaatgg	10	10	11	10	2	2	2	1	2	1	0	3	2	3	2	2	3	1	3	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:187629423C>T	ENST00000441802.2	-	2	1768	c.1559G>A	c.(1558-1560)aGt>aAt	p.S520N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	520	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCTGACGTACTCACGGCACC	0.517										HNSCC(5;0.00058)			5	113					0	0	0	0	T	187629423	C	T	187629423	3	4	408	1	0	0	0	0	1	0	0	0	5734	565	20	4	12311	4	FAT1	4	187629423	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	86669	187629423	3524853	999	78817											
AHRR	57491	broad.mit.edu	37	chr5	427785	427785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttggcagctgcggctcTgctgtcccgagccactcatg	5	9	13	14	2	2	0	1	0	1	0	3	1	3	0	2	3	4	5	2	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:427785T>C	ENST00000316418.5	+	8	798	c.754T>C	c.(754-756)Tgc>Cgc	p.C252R	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Intron|AHRR_ENST00000506456.1_Intron	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCTGCGGCTCTGCTGTCCCGA	0.607													33	97					0	0	0	0	C	427785	T	C	427785	3	2	408	1	0	0	0	0	1	0	0	0	417	1580	55	5	784	5	AHRR	5	427785	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08		427785	180487475	1000	78818											
EXOC3	11336	broad.mit.edu	37	chr5	466859	466859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggatgaccacatcggtgCgctgctggctgtgcgtgggg	5	8	18	10	3	0	1	0	1	0	0	1	2	0	2	1	5	3	3	1	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:466859C>T	ENST00000512944.1	+	13	2273	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V	CTD-2228K2.5_ENST00000510714.1_Intron|EXOC3_ENST00000315013.5_Missense_Mutation_p.A695V	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	706					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CACATCGGTGCGCTGCTGGCT	0.657													21	50					0	0	0	0	T	466859	C	T	466859	3	4	408	1	0	0	0	0	1	0	0	0	5340	768	27	1	2130	1	EXOC3	5	466859	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	39074	466859	180448401	1001	78819											
SLC12A7	10723	broad.mit.edu	37	chr5	1064202	1064202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgcacgccccaccttgTgctggcgcagcaggaagggc	6	5	14	16	4	0	0	0	0	0	0	1	1	0	1	4	3	2	4	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:1064202T>C	ENST00000264930.5	-	19	2646	c.2603A>G	c.(2602-2604)cAc>cGc	p.H868R		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	868					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			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)	CCCCACCTTGTGCTGGCGCAG	0.716													7	36					0	0	0	0	C	1064202	T	C	1064202	3	2	408	1	0	0	0	0	1	0	0	0	14476	1696	59	5	672	5	SLC12A7	5	1064202	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	597343	1064202	179851058	1002	78820											
SLC6A18	348932	broad.mit.edu	37	chr5	1232472	1232472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccccgtacctcagtggagTaggtaggccaccgtcctcgc	6	8	11	16	3	1	0	1	0	0	0	4	1	3	1	6	3	1	3	6	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:1232472T>C	ENST00000324642.3	+	2	422	c.299T>C	c.(298-300)gTa>gCa	p.V100A	SLC6A18_ENST00000296821.4_Missense_Mutation_p.V100A	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	100					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCAGTGGAGTAGGTAGGCCA	0.687													3	23					0	0	0	0	C	1232472	T	C	1232472	3	2	408	1	0	0	0	0	1	0	0	0	14769	1638	57	5	305	5	SLC6A18	5	1232472	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	168270	1232472	179682788	1003	78821											
CLPTM1L	81037	broad.mit.edu	37	chr5	1330449	1330449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcaggctcgtctgctcGtccagcaggaacagaaagat	12	6	11	12	2	1	2	0	0	1	2	4	3	2	3	2	2	4	4	2	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:1330449G>A	ENST00000320895.5	-	9	1283	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	CLPTM1L_ENST00000320927.6_Intron|CLPTM1L_ENST00000507807.1_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	342					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCGTCTGCTCGTCCAGCAGGA	0.647													32	82					0	0	0	0	A	1330449	G	A	1330449	2	1	408	1	0	0	0	0	0	0	0	1	3585	1136	40	1		1	CLPTM1L	5	1330449	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	97977	1330449	179584811	1004	78822											
IRX2	153572	broad.mit.edu	37	chr5	2749646	2749646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcttgaggcgccggcGcgcgttggcgaaccaggtgg	4	8	16	13	6	1	1	0	1	1	0	2	2	2	1	3	5	1	1	3	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:2749646G>A	ENST00000382611.6	-	2	753	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.R169C	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R169C(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)		AGGCGCCGGCGCGCGTTGGCG	0.597													34	127					0	0	0	0	A	2749646	G	A	2749646	3	1	408	1	0	0	0	0	1	0	0	0	7897	1087	38	1	922	1	IRX2	5	2749646	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1419197	2749646	178165614	1005	78823											
IRX2	153572	broad.mit.edu	37	chr5	2749790	2749790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggcgtcccgcgtggCgttcttgcggtacgcggggt	1	9	19	12	8	1	0	0	0	1	0	2	0	2	0	2	6	2	2	2	6	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:2749790C>T	ENST00000382611.6	-	2	609	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A121T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		TCCCGCGTGGCGTTCTTGCGG	0.662													28	75					0	0	0	0	T	2749790	C	T	2749790	3	4	408	1	0	0	0	0	1	0	0	0	7897	768	27	1	1066	1	IRX2	5	2749790	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	144	2749790	178165470	1006	78824											
IRX1	79192	broad.mit.edu	37	chr5	3601144	3601144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatcctagcagccctccCgtccgcctgattaagggtct	6	9	11	15	3	1	1	0	1	1	0	4	2	4	2	5	2	2	1	5	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:3601144C>T	ENST00000302006.3	+	4	1485	c.1433C>T	c.(1432-1434)cCg>cTg	p.P478L		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	478						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCAGCCCTCCCGTCCGCCTGA	0.587													18	56					0	0	0	0	T	3601144	C	T	3601144	3	4	408	1	0	0	0	0	1	0	0	0	7896	652	23	1	1447	1	IRX1	5	3601144	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	851354	3601144	177314116	1007	78825											
FASTKD3	79072	broad.mit.edu	37	chr5	7863000	7863000	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcttgctcctaaaaggttAgtcagcccaatcttcacata	13	12	5	11	0	4	0	2	0	2	0	5	0	5	0	2	1	2	2	2	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:7863000A>G	ENST00000264669.5	-	4	1771	c.1635T>C	c.(1633-1635)acT>acC	p.T545T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	545					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTAAAAGGTTAGTCAGCCCAA	0.373													8	253					0	0	0	0	G	7863000	A	G	7863000	2	3	408	1	0	0	0	0	0	0	0	1	5732	407	15	5		5	FASTKD3	5	7863000	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4261856	7863000	173052260	1008	78826											
MTRR	4552	broad.mit.edu	37	chr5	7869267	7869267	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcgctgcgtcagtgcgCgctggcgcaaggttggtgga	5	8	19	9	5	1	0	1	0	0	0	1	1	1	1	0	5	2	4	0	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:7869267C>T	ENST00000264668.2	+	1	51	c.21C>T	c.(19-21)cgC>cgT	p.R7R	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	7					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGTCAGTGCGCGCTGGCGCAA	0.672													35	172					0	0	0	0	T	7869267	C	T	7869267	2	4	408	1	0	0	0	0	0	0	0	1	10031	755	27	1		1	MTRR	5	7869267	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	6267	7869267	173045993	1009	78827											
SEMA5A	9037	broad.mit.edu	37	chr5	9044645	9044645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgagcagggtgaggaggcagCcgaggatggagctgctcagc	9	4	19	9	2	1	1	1	1	0	0	1	6	1	4	1	5	5	4	1	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:9044645C>T	ENST00000382496.5	-	22	3610	c.2945G>A	c.(2944-2946)gGc>gAc	p.G982D	CTD-2215L10.1_ENST00000506519.1_RNA	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	982					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAGGAGGCAGCCGAGGATGGA	0.557													34	90					0	0	0	0	T	9044645	C	T	9044645	3	4	408	1	0	0	0	0	1	0	0	0	14124	739	26	4	287	4	SEMA5A	5	9044645	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1175378	9044645	171870615	1010	78828											
SEMA5A	9037	broad.mit.edu	37	chr5	9224815	9224815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggagttgtactgcgccGtgcggagaggaggtaaaatg	10	10	16	5	3	0	1	0	0	0	1	0	4	0	3	1	4	3	3	1	4	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:9224815G>A	ENST00000382496.5	-	8	1282	c.617C>T	c.(616-618)aCg>aTg	p.T206M		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	206	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTACTGCGCCGTGCGGAGAGG	0.512													17	38					0	0	0	0	A	9224815	G	A	9224815	3	1	408	1	0	0	0	0	1	0	0	0	14124	1145	40	1	2671	1	SEMA5A	5	9224815	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	180170	9224815	171690445	1011	78829											
CCT5	22948	broad.mit.edu	37	chr5	10258521	10258521	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagatgcgaagattgcAattctcacatgtccatttga	12	12	10	7	1	1	3	1	1	1	2	3	5	2	4	1	1	2	1	1	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:10258521A>G	ENST00000280326.4	+	6	1167	c.747A>G	c.(745-747)gcA>gcG	p.A249A	CCT5_ENST00000506600.1_Silent_p.A156A|CCT5_ENST00000515390.1_Silent_p.A194A|CCT5_ENST00000503026.1_Silent_p.A228A|CCT5_ENST00000515676.1_Silent_p.A211A	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	249					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CGAAGATTGCAATTCTCACAT	0.403													49	110					0	0	0	0	G	10258521	A	G	10258521	2	3	408	1	0	0	0	0	0	0	0	1	2985	117	5	5		5	CCT5	5	10258521	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1033706	10258521	170656739	1012	78830											
TRIO	7204	broad.mit.edu	37	chr5	14290832	14290832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcccttaagacaaataTggtctctttagaaggcctta	11	16	6	8	0	1	2	0	0	1	2	3	2	2	2	2	2	0	0	2	2	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14290832T>C	ENST00000344204.4	+	5	572	c.548T>C	c.(547-549)aTg>aCg	p.M183T	TRIO_ENST00000537187.1_Missense_Mutation_p.M183T|TRIO_ENST00000509967.2_Missense_Mutation_p.M134T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	183	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGACAAATATGGTCTCTTTA	0.363													5	31					0	0	0	0	C	14290832	T	C	14290832	3	2	408	1	0	0	0	0	1	0	0	0	16647	1464	51	5	566	5	TRIO	5	14290832	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4032311	14290832	166624428	1013	78831											
TRIO	7204	broad.mit.edu	37	chr5	14369559	14369559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcggggcggataagctggGcccaaactctgagacggacc	9	5	16	11	3	1	1	0	1	1	1	1	4	1	3	2	6	2	1	2	6	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14369559G>A	ENST00000344204.4	+	18	3167	c.3143G>A	c.(3142-3144)gGc>gAc	p.G1048D	TRIO_ENST00000537187.1_Missense_Mutation_p.G1048D|TRIO_ENST00000509967.2_Missense_Mutation_p.G999D	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1048					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATAAGCTGGGCCCAAACTCT	0.592													22	73					0	0	0	0	A	14369559	G	A	14369559	3	1	408	1	0	0	0	0	1	0	0	0	16647	1203	42	4	3213	4	TRIO	5	14369559	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	78727	14369559	166545701	1014	78832											
TRIO	7204	broad.mit.edu	37	chr5	14487613	14487613	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccagaggaaccacagcggGggcggcggcggcggcggcag	8	1	20	12	6	0	1	0	0	0	1	0	2	0	2	2	8	3	1	2	8	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14487613G>C	ENST00000344204.4	+	48	6900	c.6876G>C	c.(6874-6876)ggG>ggC	p.G2292G	TRIO_ENST00000537187.1_Silent_p.G2292G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2292	Poly-Gly.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCACAgcgggggcggcggcg	0.756													9	24					0	0	0	0	C	14487613	G	C	14487613	2	2	408	1	0	0	0	0	0	0	0	1	16647	1219	43	4		4	TRIO	5	14487613	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	118054	14487613	166427647	1015	78833											
TRIO	7204	broad.mit.edu	37	chr5	14488150	14488150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccttctctcggcaaggaGcccttcccccccagcagccc	5	7	8	21	1	1	0	0	0	1	0	5	1	3	1	6	2	3	2	6	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14488150G>A	ENST00000344204.4	+	48	7437	c.7413G>A	c.(7411-7413)gaG>gaA	p.E2471E	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2471					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCGGCAAGGAGCCCTTCCCCC	0.746													10	18					0	0	0	0	A	14488150	G	A	14488150	2	1	408	1	0	0	0	0	0	0	0	1	16647	962	34	4		4	TRIO	5	14488150	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	537	14488150	166427110	1016	78834											
TRIO	7204	broad.mit.edu	37	chr5	14508455	14508455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttccttcattgagcggcGcaaacaccagaatgatgttc	11	10	9	11	2	1	3	1	2	0	1	3	4	2	3	2	1	2	2	2	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14508455G>A	ENST00000344204.4	+	57	9242	c.9218G>A	c.(9217-9219)cGc>cAc	p.R3073H	TRIO_ENST00000537187.1_Missense_Mutation_p.R2897H|TRIO_ENST00000344135.5_Missense_Mutation_p.R572H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3073					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.R3073H(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATTGAGCGGCGCAAACACCAG	0.547													32	102					0	0	0	0	A	14508455	G	A	14508455	3	1	408	1	0	0	0	0	1	0	0	0	16647	1087	38	1	9444	1	TRIO	5	14508455	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	20305	14508455	166406805	1017	78835											
ANKH	56172	broad.mit.edu	37	chr5	14756037	14756037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttgtgttttaagagaatgCcagcatgggtccatgcctgc	9	13	11	8	0	0	1	0	0	0	1	1	2	1	1	3	1	4	2	3	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14756037C>T	ENST00000284268.6	-	4	779	c.449G>A	c.(448-450)gGc>gAc	p.G150D		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	150					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAAGAGAATGCCAGCATGGGT	0.438													4	76					0	0	0	0	T	14756037	C	T	14756037	3	4	408	1	0	0	0	0	1	0	0	0	627	739	26	4	1065	4	ANKH	5	14756037	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	247582	14756037	166159223	1018	78836											
FBXL7	23194	broad.mit.edu	37	chr5	15936691	15936691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggacgaaggcctgcAcaccatcgcggcgcactgca	9	4	14	14	4	0	0	0	0	0	0	1	3	0	2	2	4	2	4	2	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:15936691A>G	ENST00000504595.1	+	4	1353	c.872A>G	c.(871-873)cAc>cGc	p.H291R	FBXL7_ENST00000329673.7_Missense_Mutation_p.H279R|FBXL7_ENST00000510662.1_Missense_Mutation_p.H244R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	291					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAAGGCCTGCACACCATCGCG	0.627													22	55					0	0	0	0	G	15936691	A	G	15936691	3	3	408	1	0	0	0	0	1	0	0	0	5769	159	6	5	886	5	FBXL7	5	15936691	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1180654	15936691	164978569	1019	78837											
ZNF622	90441	broad.mit.edu	37	chr5	16465396	16465396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggccgcgttcatggCatccttgtccacactgtcca	6	11	10	14	2	1	0	1	0	0	0	4	1	4	1	4	3	0	2	4	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:16465396C>T	ENST00000308683.2	-	1	505	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	127						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCGTTCATGGCATCCTTGTCC	0.587													33	110					0	0	0	0	T	16465396	C	T	16465396	3	4	408	1	0	0	0	0	1	0	0	0	18141	710	25	4	1078	4	ZNF622	5	16465396	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	528705	16465396	164449864	1020	78838											
CDH18	1016	broad.mit.edu	37	chr5	19571743	19571743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaactgtaccaacgacggTcccaatcttggcattttcgt	11	11	7	12	3	1	0	0	0	1	0	3	1	2	0	2	2	3	2	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:19571743T>C	ENST00000507958.1	-	10	2188	c.1198A>G	c.(1198-1200)Acc>Gcc	p.T400A	CDH18_ENST00000506372.1_Missense_Mutation_p.T400A|CDH18_ENST00000511273.1_Missense_Mutation_p.T400A|CDH18_ENST00000274170.4_Missense_Mutation_p.T400A|CDH18_ENST00000502796.1_Missense_Mutation_p.T400A|CDH18_ENST00000382275.1_Missense_Mutation_p.T400A			Q13634	CAD18_HUMAN	cadherin 18, type 2	400	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCAACGACGGTCCCAATCTTG	0.418													18	85					0	0	0	0	C	19571743	T	C	19571743	3	2	408	1	0	0	0	0	1	0	0	0	3132	1667	58	5	1198	5	CDH18	5	19571743	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3106347	19571743	161343517	1021	78839											
CDH12	1010	broad.mit.edu	37	chr5	21751992	21751992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgagggactctgccaCggacccactcccttcgtagg	8	7	12	14	2	1	2	0	1	1	1	3	4	2	4	3	3	2	2	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:21751992C>T	ENST00000382254.1	-	15	3325	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.V747M|CDH12_ENST00000522262.1_Missense_Mutation_p.V707M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	747					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTCTGCCACGGACCCACTC	0.512										HNSCC(59;0.17)			14	104					0	0	0	0	T	21751992	C	T	21751992	3	4	408	1	0	0	0	0	1	0	0	0	3127	536	19	1	149	1	CDH12	5	21751992	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2180249	21751992	159163268	1022	78840											
CDH10	1008	broad.mit.edu	37	chr5	24537624	24537624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagttcttctgttaatagCttgtgcgcgtagagtataaa	11	14	10	6	2	2	2	0	0	2	2	2	2	2	2	0	0	2	5	0	0	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:24537624C>T	ENST00000264463.4	-	3	898	c.391G>A	c.(391-393)Gct>Act	p.A131T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	131	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGTTAATAGCTTGTGCGCGT	0.398										HNSCC(23;0.051)			50	115					0	0	0	0	T	24537624	C	T	24537624	3	4	408	1	0	0	0	0	1	0	0	0	3125	797	28	4	2015	4	CDH10	5	24537624	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2785632	24537624	156377636	1023	78841											
CDH6	1004	broad.mit.edu	37	chr5	31297440	31297440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgacggatgcagatgatccaAcatatgggaacagtgctaaa	15	7	11	8	2	0	2	0	1	0	1	1	5	1	4	1	2	4	2	1	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:31297440A>G	ENST00000265071.2	+	4	833	c.568A>G	c.(568-570)Aca>Gca	p.T190A	CDH6_ENST00000514738.1_Missense_Mutation_p.T135A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	190	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						AGATGATCCAACATATGGGAA	0.368													24	72					0	0	0	0	G	31297440	A	G	31297440	3	3	408	1	0	0	0	0	1	0	0	0	3143	43	2	5	578	5	CDH6	5	31297440	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6759816	31297440	149617820	1024	78842											
CDH6	1004	broad.mit.edu	37	chr5	31323233	31323233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacggaccccactgccccgCcatacgactccttggccact	8	6	7	20	3	0	0	0	0	0	0	1	2	1	1	7	2	2	0	7	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:31323233C>T	ENST00000265071.2	+	12	2456	c.2191C>T	c.(2191-2193)Cca>Tca	p.P731S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	731					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						CACTGCCCCGCCATACGACTC	0.547													15	49					0	0	0	0	T	31323233	C	T	31323233	3	4	408	1	0	0	0	0	1	0	0	0	3143	739	26	4	2233	4	CDH6	5	31323233	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	25793	31323233	149592027	1025	78843											
PDZD2	23037	broad.mit.edu	37	chr5	31983619	31983619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctcaaggaggtggctggaCcccatctagagaggtcagaa	11	7	13	10	0	3	2	2	0	2	2	4	5	3	4	2	5	0	1	2	5	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:31983619C>A	ENST00000438447.1	+	3	1223	c.835C>A	c.(835-837)Ccc>Acc	p.P279T	PDZD2_ENST00000282493.3_Missense_Mutation_p.P279T			O15018	PDZD2_HUMAN	PDZ domain containing 2	279					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGTGGCTGGACCCCATCTAGA	0.527													4	137					2.56e-06	2.6216e-06	1	0	A	31983619	C	A	31983619	3	1	408	1	0	0	0	0	1	0	0	0	11772	507	18	4	841	4	PDZD2	5	31983619	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	660386	31983619	148931641	1026	78844											
NPR3	4883	broad.mit.edu	37	chr5	32724858	32724858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatcatgctggtggcgcAcaggcatggcatgaccagtg	9	7	15	10	1	1	1	1	1	0	0	1	2	1	1	1	4	2	5	1	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:32724858A>G	ENST00000265074.8	+	2	1167	c.824A>G	c.(823-825)cAc>cGc	p.H275R	NPR3_ENST00000415685.2_Missense_Mutation_p.H59R|NPR3_ENST00000415167.2_Missense_Mutation_p.H275R|NPR3_ENST00000434067.2_Missense_Mutation_p.H59R	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)	275					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			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)	CTGGTGGCGCACAGGCATGGC	0.537													20	46					0	0	0	0	G	32724858	A	G	32724858	3	3	408	1	0	0	0	0	1	0	0	0	10667	159	6	5	830	5	NPR3	5	32724858	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	741239	32724858	148190402	1027	78845											
NPR3	4883	broad.mit.edu	37	chr5	32774849	32774849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaggattccacgatgccatCctcctctacgtcttggctct	7	12	8	14	2	3	0	0	0	3	0	6	3	6	1	4	2	2	1	4	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:32774849C>T	ENST00000265074.8	+	4	1438	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	NPR3_ENST00000415685.2_Silent_p.I149I|NPR3_ENST00000415167.2_Silent_p.I365I|NPR3_ENST00000434067.2_Silent_p.I149I	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)	365					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			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)	ACGATGCCATCCTCCTCTACG	0.433													67	178					0	0	0	0	T	32774849	C	T	32774849	2	4	408	1	0	0	0	0	0	0	0	1	10667	845	30	2		2	NPR3	5	32774849	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	49991	32774849	148140411	1028	78846											
SLC45A2	51151	broad.mit.edu	37	chr5	33944930	33944930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcgcagtccatgccCttccctctcacgctgttgtc	4	11	11	15	2	1	0	1	0	1	0	5	0	3	0	3	2	1	3	3	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:33944930C>A	ENST00000296589.4	-	7	1562	c.1416G>T	c.(1414-1416)aaG>aaT	p.K472N	SLC45A2_ENST00000342059.3_Missense_Mutation_p.K413N	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	472					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AGTCCATGCCCTTCCCTCTCA	0.597													9	33					5.4927e-09	5.66993e-09	1	0	A	33944930	C	A	33944930	3	1	408	1	0	0	0	0	1	0	0	0	14729	680	24	4	180	4	SLC45A2	5	33944930	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1170081	33944930	146970330	1029	78847											
AGXT2	64902	broad.mit.edu	37	chr5	35035325	35035325	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatattccaagttgtgattAcctgaaagaaatgatgtcta	15	13	8	5	0	1	4	0	3	1	1	2	5	2	4	2	0	1	1	2	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:35035325A>G	ENST00000231420.6	-	5	782		c.e5+1			NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2						glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGTTGTGATTACCTGAAAGAA	0.443													26	116					0	0	0	0	G	35035325	A	G	35035325	5	3	408	1	0	0	0	0	0	0	1	0	405	405	14	5	1001	5	AGXT2	5	35035325	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1090395	35035325	145879935	1030	78848											
SPEF2	79925	broad.mit.edu	37	chr5	35646772	35646772	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatatgggatattcagcaaTacttaaacagaagacgacaa	18	9	8	6	1	1	2	1	0	0	2	1	4	1	3	0	1	3	2	0	1	9	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:35646772T>A	ENST00000440995.2	+	5	589	c.589T>A	c.(589-591)Tac>Aac	p.Y197N	SPEF2_ENST00000509059.1_Missense_Mutation_p.Y197N|SPEF2_ENST00000356031.3_Missense_Mutation_p.Y197N|SPEF2_ENST00000282469.6_Missense_Mutation_p.Y197N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	197					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATTCAGCAATACTTAAACAG	0.303													5	118					0	0	0	0	A	35646772	T	A	35646772	3	1	408	1	0	0	0	0	1	0	0	0	15125	1406	49	5	607	5	SPEF2	5	35646772	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	611447	35646772	145268488	1031	78849											
UGT3A1	133688	broad.mit.edu	37	chr5	35954387	35954387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaagccacatagtgcccaGagtgagccccagcagaaaca	16	3	9	13	0	0	3	0	1	0	2	0	3	0	3	4	0	5	1	4	0	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:35954387G>A	ENST00000274278.3	-	7	1846	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	497						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAGTGCCCAGAGTGAGCCCC	0.587													10	46					0	0	0	0	A	35954387	G	A	35954387	2	1	408	1	0	0	0	0	0	0	0	1	17059	933	33	2		2	UGT3A1	5	35954387	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	307615	35954387	144960873	1032	78850											
NIPBL	25836	broad.mit.edu	37	chr5	36975950	36975950	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagatgttccaccagataTcttgctagattctccagaaa	12	12	7	10	1	2	4	0	0	2	4	5	5	3	4	3	0	1	2	3	0	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:36975950T>A	ENST00000282516.8	+	9	1440	c.941T>A	c.(940-942)aTc>aAc	p.I314N	NIPBL_ENST00000448238.2_Missense_Mutation_p.I314N|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	314					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCACCAGATATCTTGCTAGAT	0.373													21	116					0	0	0	0	A	36975950	T	A	36975950	3	1	408	1	0	0	0	0	1	0	0	0	10498	1435	50	5	971	5	NIPBL	5	36975950	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1021563	36975950	143939310	1033	78851											
NIPBL	25836	broad.mit.edu	37	chr5	36986173	36986173	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccgaaaatcaagagggAtaaagatggcaatgttactc	16	9	9	7	1	1	2	1	0	0	2	3	4	2	3	1	2	1	2	1	2	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:36986173A>T	ENST00000282516.8	+	10	3390	c.2891A>T	c.(2890-2892)gAt>gTt	p.D964V	NIPBL_ENST00000448238.2_Missense_Mutation_p.D964V|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	964					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCAAGAGGGATAAAGATGGC	0.368													34	129					0	0	0	0	T	36986173	A	T	36986173	3	4	408	1	0	0	0	0	1	0	0	0	10498	333	12	5	2925	5	NIPBL	5	36986173	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	10223	36986173	143929087	1034	78852											
WDR70	55100	broad.mit.edu	37	chr5	37725149	37725149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaacctcctgtagcaggcCcaggtgactgtgatccagct	8	9	11	13	0	0	3	0	3	0	0	2	3	2	3	4	2	3	3	4	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:37725149C>A	ENST00000265107.4	+	16	1867	c.1711C>A	c.(1711-1713)Cca>Aca	p.P571T		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	571										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTAGCAGGCCCAGGTGACTG	0.537													23	83					7.87624e-14	8.22829e-14	1	0	A	37725149	C	A	37725149	3	1	408	1	0	0	0	0	1	0	0	0	17417	623	22	4	1773	4	WDR70	5	37725149	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	738976	37725149	143190111	1035	78853											
OSMR	9180	broad.mit.edu	37	chr5	38904532	38904532	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagagtacatggcgcgagtAcggtgtgctgatgccagcca	10	7	14	10	3	0	2	0	1	0	1	0	3	0	2	2	2	5	3	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:38904532A>G	ENST00000274276.3	+	9	1614	c.1212A>G	c.(1210-1212)gtA>gtG	p.V404V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	404	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGGCGCGAGTACGGTGTGCTG	0.478													25	77					0	0	0	0	G	38904532	A	G	38904532	2	3	408	1	0	0	0	0	0	0	0	1	11363	378	14	5		5	OSMR	5	38904532	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1179383	38904532	142010728	1036	78854											
C9	735	broad.mit.edu	37	chr5	39331791	39331791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttacttcatagatcaaaGaagccacgttccaaggtctt	13	11	7	10	1	3	2	2	0	1	2	4	3	4	2	2	1	2	1	2	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:39331791G>A	ENST00000263408.4	-	5	697	c.602C>T	c.(601-603)tCt>tTt	p.S201F	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	201	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATAGATCAAAGAAGCCACGTT	0.398													35	80					0	0	0	0	A	39331791	G	A	39331791	3	1	408	1	0	0	0	0	1	0	0	0	2468	942	33	2	1105	2	C9	5	39331791	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	427259	39331791	141583469	1037	78855											
PTGER4	5734	broad.mit.edu	37	chr5	40681477	40681477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccatgcctatttctacAgccactacgtggacaagcga	12	9	7	13	2	2	0	1	0	1	0	2	2	2	1	3	1	6	0	3	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:40681477A>G	ENST00000302472.3	+	2	1406	c.382A>G	c.(382-384)Agc>Ggc	p.S128G	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	128					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTATTTCTACAGCCACTACGT	0.572											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	290					0	0	0	0	G	40681477	A	G	40681477	3	3	408	1	0	0	0	0	1	0	0	0	12825	188	7	5	384	5	PTGER4	5	40681477	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1349686	40681477	140233783	1038	78856											
PRKAA1	5562	broad.mit.edu	37	chr5	40765238	40765238	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcactcaaacttttcAcatacttcttttaaggcttc	10	16	4	11	0	4	1	2	1	2	0	5	1	4	1	0	1	3	2	0	1	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:40765238A>G	ENST00000397128.2	-	7	932	c.924T>C	c.(922-924)tgT>tgC	p.C308C	PRKAA1_ENST00000354209.3_Silent_p.C323C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	308					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CAAACTTTTCACATACTTCTT	0.378													13	133					0	0	0	0	G	40765238	A	G	40765238	2	3	408	1	0	0	0	0	0	0	0	1	12573	157	6	5		5	PRKAA1	5	40765238	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	83761	40765238	140150022	1039	78857											
PLCXD3	345557	broad.mit.edu	37	chr5	41313724	41313724	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagtagtgctatcaagTgttggcttctccttcatcaa	9	14	7	11	0	4	0	3	0	1	0	6	0	5	0	2	1	1	4	2	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:41313724T>G	ENST00000377801.3	-	3	1035	c.961A>C	c.(961-963)Act>Cct	p.T321P	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T321P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	321					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			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						TGCTATCAAGTGTTGGCTTCT	0.398													15	56					0	0	0	0	G	41313724	T	G	41313724	3	3	408	1	0	0	0	0	1	0	0	0	12115	1696	59	5	8	5	PLCXD3	5	41313724	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	548486	41313724	139601536	1040	78858											
C5orf34	375444	broad.mit.edu	37	chr5	43487070	43487070	+	Frame_Shift_Del	DEL	T	T	-																															atcgtgaaggatttcagaggTttttttcaatgctattgata																								rs142072137		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:43487070delT	ENST00000306862.2	-	13	2239	c.1864delA	c.(1864-1866)ccfs	p.T622fs	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	622										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					ATTTCAGAGGTTTTTTTCAAT	0.289													8	33	---	---	---	---					-	43487070	T	-	43487070	7	5	408	1	0	1	0	1	0	0	0	0	2314	1725	60	0	56	0	C5orf34	5	43487070	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	2173346	43487070	137428190	1041	78859											
NNT	23530	broad.mit.edu	37	chr5	43650623	43650623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgatgggaggacatttgTatccttccacaacttctcag	10	12	8	11	0	1	1	1	1	1	0	4	3	3	3	2	2	1	1	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:43650623T>C	ENST00000264663.5	+	12	1872	c.1651T>C	c.(1651-1653)Tat>Cat	p.Y551H	NNT_ENST00000512996.2_Missense_Mutation_p.Y420H|NNT_ENST00000344920.4_Missense_Mutation_p.Y551H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	551					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AGGACATTTGTATCCTTCCAC	0.433													8	77					0	0	0	0	C	43650623	T	C	43650623	3	2	408	1	0	0	0	0	1	0	0	0	10580	1638	57	5	1693	5	NNT	5	43650623	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	163553	43650623	137264637	1042	78860											
HCN1	348980	broad.mit.edu	37	chr5	45462020	45462020	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtactaagaactgaagacaAccatcccagtggcacaggag	15	5	11	10	0	0	3	0	1	0	2	1	4	1	4	2	3	3	2	2	3	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:45462020A>G	ENST00000303230.4	-	3	996	c.939T>C	c.(937-939)ggT>ggC	p.G313G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	313						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACTGAAGACAACCATCCCAGT	0.423													12	26					0	0	0	0	G	45462020	A	G	45462020	2	3	408	1	0	0	0	0	0	0	0	1	7046	30	2	5		5	HCN1	5	45462020	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1811397	45462020	135453240	1043	78861											
GZMK	3003	broad.mit.edu	37	chr5	54326335	54326335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatgaggcctccaaacaaAcactggagatcaaaaaattt	19	7	7	8	0	1	3	1	1	0	2	2	4	2	3	2	2	2	0	2	2	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:54326335A>G	ENST00000231009.2	+	3	356	c.286A>G	c.(286-288)Aca>Gca	p.T96A	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)	96	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			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)				CTCCAAACAAACACTGGAGAT	0.398													4	135					0	0	0	0	G	54326335	A	G	54326335	3	3	408	1	0	0	0	0	1	0	0	0	6968	43	2	5	296	5	GZMK	5	54326335	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	8864315	54326335	126588925	1044	78862											
MAP3K1	4214	broad.mit.edu	37	chr5	56180610	56180610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaggatgttgggagccacGtgtgagaagagcaattacaa	14	9	13	5	1	0	2	0	1	0	2	0	5	0	4	1	2	3	2	1	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:56180610G>A	ENST00000399503.3	+	16	3939	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1313	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGGGAGCCACGTGTGAGAAGA	0.363													6	39					0	0	0	0	A	56180610	G	A	56180610	2	1	408	1	0	0	0	0	0	0	0	1	9312	1132	40	1		1	MAP3K1	5	56180610	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1854275	56180610	124734650	1045	78863											
MIER3	166968	broad.mit.edu	37	chr5	56219085	56219085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggtgatgtgatgtgtgTgattttcaaagtccacaccc	9	13	10	9	0	1	3	1	3	0	0	2	3	2	3	2	1	0	0	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:56219085T>C	ENST00000381226.3	-	13	1553	c.1538A>G	c.(1537-1539)cAc>cGc	p.H513R	MIER3_ENST00000409421.1_Missense_Mutation_p.H445R|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381199.3_Missense_Mutation_p.H508R|MIER3_ENST00000381213.3_Missense_Mutation_p.H507R			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GTGATGTGTGTGATTTTCAAA	0.453													4	98					0	0	0	0	C	56219085	T	C	56219085	3	2	408	1	0	0	0	0	1	0	0	0	9651	1696	59	5	133	5	MIER3	5	56219085	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38475	56219085	124696175	1046	78864											
PDE4D	5144	broad.mit.edu	37	chr5	59064256	59064256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggatttcacaaggtctTcgttcagccacgggtttgga	9	11	12	9	2	3	0	2	0	1	0	4	2	3	2	1	4	1	3	1	4	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:59064256T>C	ENST00000507116.1	-	1	215	c.80A>G	c.(79-81)gAa>gGa	p.E27G	PDE4D_ENST00000502575.1_Missense_Mutation_p.E27G|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000340635.6_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CACAAGGTCTTCGTTCAGCCA	0.493													47	117					0	0	0	0	C	59064256	T	C	59064256	3	2	408	1	0	0	0	0	1	0	0	0	11713	1798	62	5		5	PDE4D	5	59064256	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2845171	59064256	121851004	1047	78865											
DEPDC1B	55789	broad.mit.edu	37	chr5	59895032	59895032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctctggactaatttgaCggcaaaatgatggagcagat	13	11	10	7	1	1	3	0	2	1	1	2	5	2	5	1	3	1	2	1	3	3	3	rs150780889	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:59895032C>T	ENST00000265036.5	-	10	1365	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	433					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ACTAATTTGACGGCAAAATGA	0.393													13	53					0	0	0	0	T	59895032	C	T	59895032	3	4	408	1	0	0	0	0	1	0	0	0	4477	536	19	1	299	1	DEPDC1B	5	59895032	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	830776	59895032	121020228	1048	78866											
IPO11	51194	broad.mit.edu	37	chr5	61923013	61923013	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgttcatacagtgtcActgcagcagttcatctacga	10	11	8	12	1	4	0	3	0	1	0	4	2	4	0	1	0	4	4	1	0	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:61923013A>G	ENST00000325324.6	+	30	2965	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S	IPO11_ENST00000409534.1_Silent_p.S51S|IPO11_ENST00000409296.3_Silent_p.S972S|IPO11_ENST00000512177.1_3'UTR	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	932						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ATACAGTGTCACTGCAGCAGT	0.483													8	58					0	0	0	0	G	61923013	A	G	61923013	2	3	408	1	0	0	0	0	0	0	0	1	7846	146	6	5		5	IPO11	5	61923013	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2027981	61923013	118992247	1049	78867											
NLN	57486	broad.mit.edu	37	chr5	65105442	65105442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggacgtcgattccctccGaagattgtcaaaacattata	12	11	9	9	3	1	1	1	0	0	1	4	4	3	2	2	1	1	0	2	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:65105442G>A	ENST00000380985.5	+	10	1806	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	NLN_ENST00000502464.1_Missense_Mutation_p.R439Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	543					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GATTCCCTCCGAAGATTGTCA	0.423													19	71					0	0	0	0	A	65105442	G	A	65105442	3	1	408	1	0	0	0	0	1	0	0	0	10537	1058	37	1	1666	1	NLN	5	65105442	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3182429	65105442	115809818	1050	78868											
ERBB2IP	55914	broad.mit.edu	37	chr5	65309448	65309448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcttttcttgagttctTgccagcaaattttggcaggt	7	17	10	7	0	2	2	0	2	2	0	2	2	2	2	1	2	3	4	1	2	1	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:65309448T>C	ENST00000284037.5	+	6	847	c.458T>C	c.(457-459)tTg>tCg	p.L153S	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L153S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	153					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTTGAGTTCTTGCCAGCAAAT	0.333													18	89					0	0	0	0	C	65309448	T	C	65309448	3	2	408	1	0	0	0	0	1	0	0	0	5245	1821	63	5	472	5	ERBB2IP	5	65309448	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	204006	65309448	115605812	1051	78869											
ERBB2IP	55914	broad.mit.edu	37	chr5	65342330	65342330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatgaaagcctctgagaaCttgaagcatattgttaacca	16	11	7	7	0	1	3	0	3	1	1	1	4	1	3	2	0	4	2	2	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:65342330C>T	ENST00000284037.5	+	18	2141	c.1752C>T	c.(1750-1752)aaC>aaT	p.N584N	ERBB2IP_ENST00000380939.2_Silent_p.N584N|ERBB2IP_ENST00000380938.2_Silent_p.N584N|ERBB2IP_ENST00000506030.1_Silent_p.N584N|ERBB2IP_ENST00000511297.1_Silent_p.N580N|ERBB2IP_ENST00000380935.1_Silent_p.N584N|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Silent_p.N584N|ERBB2IP_ENST00000380936.1_Silent_p.N584N|ERBB2IP_ENST00000380943.2_Silent_p.N584N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	584					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CCTCTGAGAACTTGAAGCATA	0.333													8	226					0	0	0	0	T	65342330	C	T	65342330	2	4	408	1	0	0	0	0	0	0	0	1	5245	564	20	4		4	ERBB2IP	5	65342330	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	32882	65342330	115572930	1052	78870											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349638	65349638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattctgaggaaacttcccAgtctcctaataggactgaac	13	10	7	11	0	2	2	0	2	2	0	4	4	3	4	2	2	2	0	2	2	4	4	rs143804809		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:65349638A>G	ENST00000284037.5	+	21	2881	c.2492A>G	c.(2491-2493)cAg>cGg	p.Q831R	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q827R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q831R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	831					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAAACTTCCCAGTCTCCTAAT	0.388													10	29					0	0	0	0	G	65349638	A	G	65349638	3	3	408	1	0	0	0	0	1	0	0	0	5245	188	7	5	2566	5	ERBB2IP	5	65349638	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7308	65349638	115565622	1053	78871											
MAST4	375449	broad.mit.edu	37	chr5	66255090	66255090	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaaccatgaaagcccagcgGgaaaggctacagattccggg	14	4	12	11	2	0	2	0	1	0	1	1	3	1	3	3	3	4	1	3	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:66255090G>T	ENST00000405643.1	+	1	393	c.15G>T	c.(13-15)cgG>cgT	p.R5R	MAST4_ENST00000406374.1_Intron|MAST4_ENST00000403666.1_Intron|MAST4_ENST00000407621.1_Silent_p.R5R|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000406039.1_Intron			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1094						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGCCCAGCGGGAAAGGCTAC	0.483													15	56					6.31663e-08	6.50258e-08	1	0	T	66255090	G	T	66255090	2	4	408	1	0	0	0	0	0	0	0	1	9396	1247	43	4		4	MAST4	5	66255090	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	905452	66255090	114660170	1054	78872											
MAST4	375449	broad.mit.edu	37	chr5	66459127	66459127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaaagtccgccggcaacAtcccactgtccccgctggcc	7	5	11	18	4	0	0	0	0	0	0	3	1	3	0	6	3	1	2	6	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:66459127A>G	ENST00000404260.3	+	29	4437	c.4129A>G	c.(4129-4131)Atc>Gtc	p.I1377V	MAST4_ENST00000261569.7_Missense_Mutation_p.I1180V|MAST4_ENST00000405643.1_Missense_Mutation_p.I1195V|MAST4_ENST00000403666.1_Missense_Mutation_p.I1185V|MAST4_ENST00000403625.2_Missense_Mutation_p.I1374V			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1377						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGCCGGCAACATCCCACTGTC	0.682													36	106					0	0	0	0	G	66459127	A	G	66459127	3	3	408	1	0	0	0	0	1	0	0	0	9396	217	8	5	4364	5	MAST4	5	66459127	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	204037	66459127	114456133	1055	78873											
TAF9	6880	broad.mit.edu	37	chr5	68660866	68660866	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcattggcagtattttgTgatgacatcatattagtggt	10	17	10	4	0	2	2	2	2	0	0	2	3	2	2	0	2	0	2	0	2	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:68660866T>C	ENST00000328663.4	-	3	1165	c.699A>G	c.(697-699)tcA>tcG	p.S233S	TAF9_ENST00000217893.5_Silent_p.S233S|TAF9_ENST00000506736.1_Silent_p.S233S|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CAGTATTTTGTGATGACATCA	0.338													16	56					0	0	0	0	C	68660866	T	C	68660866	2	2	408	1	0	0	0	0	0	0	0	1	15626	1683	59	5		5	TAF9	5	68660866	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2201739	68660866	112254394	1056	78874											
TAF9	6880	broad.mit.edu	37	chr5	68662584	68662584	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttcctaattagcaatcaTatgtaaaattttttttttga	14	20	3	4	0	1	1	1	1	0	0	2	1	2	1	1	0	1	2	1	0	7	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:68662584T>C	ENST00000506736.1	-	0	64				TAF9_ENST00000217893.5_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000328663.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron			Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TTAGCAATCATATGTAAAAtt	0.433													4	4					0	0	0	0	C	68662584	T	C	68662584	1	2	408	1	0	0	0	0	0	0	0	0	15626	1421	49	5		5	TAF9	5	68662584	Translation_Start_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1718	68662584	112252676	1057	78875											
MARVELD2	153562	broad.mit.edu	37	chr5	68737375	68737375	+	Frame_Shift_Del	DEL	A	A	-																															acaggatcctacatttctggAaaaaaaagaacgctgtgatt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:68737375delA	ENST00000325631.5	+	7	1645	c.1571delA	c.(1570-1572)gafs	p.E524fs	MARVELD2_ENST00000413223.2_Frame_Shift_Del_p.E408fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	524					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACATTTCTGGAAAAAAAAGAA	0.323													7	32	---	---	---	---					-	68737375	A	-	68737375	7	5	408	1	0	1	0	1	0	0	0	0	9387	246	9	0	1593	0	MARVELD2	5	68737375	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	74791	68737375	112177885	1058	78876											
BDP1	55814	broad.mit.edu	37	chr5	70852717	70852717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttcttaaaataggtgcActcaaaggaattaacaaatg	18	12	6	5	0	2	0	1	0	1	0	2	1	2	1	0	2	2	1	0	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:70852717A>G	ENST00000358731.4	+	36	7468	c.7205A>G	c.(7204-7206)cAc>cGc	p.H2402R	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2402					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		aaataGGTGCACTCAAAGGAA	0.234													6	26					0	0	0	0	G	70852717	A	G	70852717	3	3	408	1	0	0	0	0	1	0	0	0	1399	159	6	5	7347	5	BDP1	5	70852717	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2115342	70852717	110062543	1059	78877											
BDP1	55814	broad.mit.edu	37	chr5	70858308	70858308	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccatctccaagtgttatTactactcaatctgagaatat	12	15	4	10	0	3	1	1	1	2	1	5	2	4	1	2	0	2	1	2	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:70858308T>C	ENST00000358731.4	+	38	7967	c.7704T>C	c.(7702-7704)atT>atC	p.I2568I	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2568					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAGTGTTATTACTACTCAAT	0.353													21	47					0	0	0	0	C	70858308	T	C	70858308	2	2	408	1	0	0	0	0	0	0	0	1	1399	1742	61	5		5	BDP1	5	70858308	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5591	70858308	110056952	1060	78878											
MCCC2	64087	broad.mit.edu	37	chr5	70927998	70927998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggatcttggaggtgcTgatcttcattgcaggtgaaa	9	12	14	6	0	3	3	1	3	2	0	3	5	3	5	0	4	2	3	0	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:70927998T>C	ENST00000340941.6	+	8	918	c.789T>C	c.(787-789)gcT>gcC	p.A263A	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.A225A|MCCC2_ENST00000509358.2_Silent_p.A263A	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	263	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TTGGAGGTGCTGATCTTCATT	0.383													27	85					0	0	0	0	C	70927998	T	C	70927998	2	2	408	1	0	0	0	0	0	0	0	1	9444	1567	55	5		5	MCCC2	5	70927998	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	69690	70927998	109987262	1061	78879											
TNPO1	3842	broad.mit.edu	37	chr5	72192975	72192975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagacgttgttagagaatAcaggtaccatatgactgaac	16	9	9	7	1	0	4	0	2	0	2	0	5	0	4	1	1	3	3	1	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:72192975A>G	ENST00000337273.5	+	20	2761	c.2335A>G	c.(2335-2337)Aca>Gca	p.T779A	TNPO1_ENST00000506351.2_Missense_Mutation_p.T771A|TNPO1_ENST00000454282.1_Missense_Mutation_p.T729A|TNPO1_ENST00000523768.1_Missense_Mutation_p.T729A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	779					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GTTAGAGAATACAGGTACCAT	0.358													8	63					0	0	0	0	G	72192975	A	G	72192975	3	3	408	1	0	0	0	0	1	0	0	0	16429	391	14	5	2413	5	TNPO1	5	72192975	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1264977	72192975	108722285	1062	78880											
UTP15	84135	broad.mit.edu	37	chr5	72863173	72863173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaattatatggaattatgGctggttataagcctgtagct	11	15	10	5	0	0	0	0	0	0	0	0	1	0	1	1	3	3	5	1	3	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:72863173G>A	ENST00000296792.4	+	2	259	c.4G>A	c.(4-6)Gct>Act	p.A2T	UTP15_ENST00000543251.1_Intron|UTP15_ENST00000508491.1_Missense_Mutation_p.A2T	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	2					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TGGAATTATGGCTGGTTATAA	0.348													29	86					0	0	0	0	A	72863173	G	A	72863173	3	1	408	1	0	0	0	0	1	0	0	0	17193	1203	42	4	6	4	UTP15	5	72863173	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	670198	72863173	108052087	1063	78881											
UTP15	84135	broad.mit.edu	37	chr5	72868354	72868354	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacatgttaaaaggaggAcaattgctagtatctttgaa	14	12	11	4	0	1	1	0	1	1	0	1	4	1	4	0	3	1	3	0	3	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:72868354A>T	ENST00000296792.4	+	7	969	c.714A>T	c.(712-714)ggA>ggT	p.G238G	UTP15_ENST00000543251.1_Silent_p.G48G|UTP15_ENST00000508491.1_Silent_p.G219G	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	238					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TAAAAGGAGGACAATTGCTAG	0.383													55	177					0	0	0	0	T	72868354	A	T	72868354	2	4	408	1	0	0	0	0	0	0	0	1	17193	262	10	5		5	UTP15	5	72868354	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5181	72868354	108046906	1064	78882											
F2R	2149	broad.mit.edu	37	chr5	76028487	76028487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgctgcacctggccaCggcagatgtgctgtttgtgt	6	12	13	10	1	0	1	0	0	0	1	0	1	0	1	2	2	4	6	2	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:76028487C>T	ENST00000319211.4	+	2	702	c.437C>T	c.(436-438)aCg>aTg	p.T146M		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	146					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CACCTGGCCACGGCAGATGTG	0.498													55	196					0	0	0	0	T	76028487	C	T	76028487	3	4	408	1	0	0	0	0	1	0	0	0	5381	536	19	1	443	1	F2R	5	76028487	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3160133	76028487	104886773	1065	78883											
LHFPL2	10184	broad.mit.edu	37	chr5	77805875	77805875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggggtggtagggctcCggggagcccccgcccgggcc	3	4	21	13	3	0	0	0	0	0	0	1	1	1	1	5	8	1	2	5	8	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:77805875C>T	ENST00000380345.2	-	4	837	c.162G>A	c.(160-162)ccG>ccA	p.P54P	LHFPL2_ENST00000515007.2_Silent_p.P54P	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	54						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGTAGGGCTCCGGGGAgcccc	0.706													9	24					0	0	0	0	T	77805875	C	T	77805875	2	4	408	1	0	0	0	0	0	0	0	1	8819	639	23	1		1	LHFPL2	5	77805875	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1777388	77805875	103109385	1066	78884											
CMYA5	202333	broad.mit.edu	37	chr5	79033127	79033127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgactccagaaaggcatAcagttcatactattcagaca	16	10	6	9	0	2	3	2	1	0	2	3	3	3	3	1	1	2	2	1	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:79033127A>G	ENST00000446378.2	+	2	8570	c.8539A>G	c.(8539-8541)Aca>Gca	p.T2847A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2847						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAGGCATACAGTTCATAC	0.423													34	78					0	0	0	0	G	79033127	A	G	79033127	3	3	408	1	0	0	0	0	1	0	0	0	3620	391	14	5	8545	5	CMYA5	5	79033127	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1227252	79033127	101882133	1067	78885											
CMYA5	202333	broad.mit.edu	37	chr5	79054654	79054654	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagtttactggagcatgaAcaaggaagatgtcattgatt	13	12	11	5	0	1	3	1	2	0	1	1	5	1	5	0	2	4	3	0	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:79054654A>G	ENST00000446378.2	+	7	11220	c.11189A>G	c.(11188-11190)aAc>aGc	p.N3730S	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3730	Fibronectin type-III 1.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGAGCATGAACAAGGAAGAT	0.393													26	77					0	0	0	0	G	79054654	A	G	79054654	3	3	408	1	0	0	0	0	1	0	0	0	3620	43	2	5	11215	5	CMYA5	5	79054654	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	21527	79054654	101860606	1068	78886											
ZFYVE16	9765	broad.mit.edu	37	chr5	79741121	79741121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagagtatggtttgcagAtggtatattgcccaatggtg	11	12	14	4	0	0	2	0	0	0	2	0	4	0	2	1	3	2	4	1	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:79741121A>G	ENST00000338008.5	+	6	2801	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D874G|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D874G	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	874					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGGTTTGCAGATGGTATATTG	0.358													19	65					0	0	0	0	G	79741121	A	G	79741121	3	3	408	1	0	0	0	0	1	0	0	0	17759	333	12	5	2639	5	ZFYVE16	5	79741121	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	686467	79741121	101174139	1069	78887											
RASGRF2	5924	broad.mit.edu	37	chr5	80369244	80369244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccccccatcagccacgAcgacgtcagcagtatttttc	10	8	8	15	3	2	0	2	0	0	0	3	3	2	0	4	0	3	2	4	0	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:80369244A>G	ENST00000265080.4	+	5	927	c.860A>G	c.(859-861)gAc>gGc	p.D287G	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	287	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCAGCCACGACGACGTCAGC	0.463													11	74					0	0	0	0	G	80369244	A	G	80369244	3	3	408	1	0	0	0	0	1	0	0	0	13155	275	10	5	878	5	RASGRF2	5	80369244	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	628123	80369244	100546016	1070	78888											
RASGRF2	5924	broad.mit.edu	37	chr5	80382759	80382759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggacaccagccaaacGttcatccgccaaggtaagtc	11	8	9	13	2	1	0	1	0	0	0	3	1	2	1	4	2	3	3	4	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:80382759G>A	ENST00000265080.4	+	9	1444	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCAGCCAAACGTTCATCCGCC	0.537													30	87					0	0	0	0	A	80382759	G	A	80382759	2	1	408	1	0	0	0	0	0	0	0	1	13155	1132	40	1		1	RASGRF2	5	80382759	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	13515	80382759	100532501	1071	78889											
RASGRF2	5924	broad.mit.edu	37	chr5	80419549	80419549	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaccttgcagatccccCtcaactcctcggcacctccg	6	10	5	20	2	2	1	2	0	0	1	6	1	5	1	6	1	2	2	6	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:80419549C>A	ENST00000265080.4	+	16	2626	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	853					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCAGATCCCCCTCAACTCCTC	0.527													15	56					6.72482e-11	6.97693e-11	1	0	A	80419549	C	A	80419549	2	1	408	1	0	0	0	0	0	0	0	1	13155	668	24	4		4	RASGRF2	5	80419549	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	36790	80419549	100495711	1072	78890											
RPS23	6228	broad.mit.edu	37	chr5	81571973	81571973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtatagggccaaaagAgaaacattggctactttgac	13	11	9	8	0	0	2	0	1	0	1	0	3	0	2	2	2	2	2	2	2	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:81571973A>G	ENST00000296674.8	-	4	640	c.387T>C	c.(385-387)tcT>tcC	p.S129S	RPS23_ENST00000512493.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000510210.1_Intron|RPS23_ENST00000510019.1_Intron|RPS23_ENST00000503605.1_Intron|ATG10_ENST00000514253.2_3'UTR	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	129					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		GGGCCAAAAGAGAAACATTGG	0.368													15	49					0	0	0	0	G	81571973	A	G	81571973	2	3	408	1	0	0	0	0	0	0	0	1	13719	291	11	5		5	RPS23	5	81571973	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1152424	81571973	99343287	1073	78891											
HAPLN1	1404	broad.mit.edu	37	chr5	82937358	82937358	+	Frame_Shift_Del	DEL	T	T	-																															agacaccatacagcttatgcTttttatctgggaaacccacg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:82937358delT	ENST00000274341.4	-	5	1872	c.1022delA	c.(1021-1023)agfs	p.K341fs		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	341	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CAGCTTATGCTTTTTATCTGG	0.493													52	204	---	---	---	---					-	82937358	T	-	82937358	7	5	408	1	0	1	0	1	0	0	0	0	7004	1609	56	0	46	0	HAPLN1	5	82937358	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1365385	82937358	97977902	1074	78892											
MEF2C	4208	broad.mit.edu	37	chr5	88100458	88100458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctctcatgcggctcgttgTactccgtgtacttgagaagc	6	12	12	11	3	1	1	1	1	1	1	4	2	2	1	1	2	4	5	1	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:88100458T>C	ENST00000504921.2	-	3	887	c.215A>G	c.(214-216)tAc>tGc	p.Y72C	MEF2C_ENST00000514015.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000539796.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000514028.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000508569.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000437473.2_Missense_Mutation_p.Y72C|MEF2C_ENST00000340208.5_Missense_Mutation_p.Y72C|MEF2C_ENST00000510942.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000424173.2_Missense_Mutation_p.Y72C|MEF2C_ENST00000506554.1_Missense_Mutation_p.Y72C			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	72					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CGGCTCGTTGTACTCCGTGTA	0.547										HNSCC(66;0.2)			15	48					0	0	0	0	C	88100458	T	C	88100458	3	2	408	1	0	0	0	0	1	0	0	0	9526	1638	57	5	1384	5	MEF2C	5	88100458	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5163100	88100458	92814802	1075	78893											
GPR98	84059	broad.mit.edu	37	chr5	89979645	89979645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaatgccacgttaacagtTttggctagtgatgatccata	12	14	8	7	1	0	2	0	2	0	0	1	2	1	2	2	1	2	3	2	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:89979645T>C	ENST00000405460.2	+	28	6003	c.5907T>C	c.(5905-5907)gtT>gtC	p.V1969V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1969					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGTTAACAGTTTTGGCTAGTG	0.408													13	18					0	0	0	0	C	89979645	T	C	89979645	2	2	408	1	0	0	0	0	0	0	0	1	6771	1828	64	5		5	GPR98	5	89979645	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1879187	89979645	90935615	1076	78894											
GPR98	84059	broad.mit.edu	37	chr5	89981749	89981749	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattatcaatgtgactagaAcaggaggagcatttgcagat	14	10	10	7	0	1	3	1	1	0	2	1	5	1	5	1	2	3	2	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:89981749A>G	ENST00000405460.2	+	29	6523	c.6427A>G	c.(6427-6429)Aca>Gca	p.T2143A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2143					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTGACTAGAACAGGAGGAGC	0.413													9	29					0	0	0	0	G	89981749	A	G	89981749	3	3	408	1	0	0	0	0	1	0	0	0	6771	43	2	5	6541	5	GPR98	5	89981749	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2104	89981749	90933511	1077	78895											
GPR98	84059	broad.mit.edu	37	chr5	89990217	89990217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttgaagttcacctcatGaacatttcagccagtttgaa	11	13	6	11	0	3	3	3	3	0	0	4	3	4	3	3	0	2	2	3	0	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:89990217G>A	ENST00000405460.2	+	33	7740	c.7644G>A	c.(7642-7644)atG>atA	p.M2548I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCACCTCATGAACATTTCAG	0.393													42	124					0	0	0	0	A	89990217	G	A	89990217	3	1	408	1	0	0	0	0	1	0	0	0	6771	1290	45	2	7774	2	GPR98	5	89990217	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	8468	89990217	90925043	1078	78896											
GPR98	84059	broad.mit.edu	37	chr5	90020655	90020655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtttttcagggggaaTggatgttgtgttttccgtat	5	20	13	3	1	1	0	1	0	0	0	2	2	2	2	1	3	0	4	1	3	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:90020655T>C	ENST00000405460.2	+	46	9851	c.9755T>C	c.(9754-9756)aTg>aCg	p.M3252T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3252					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGGGGGAATGGATGTTGTG	0.299													49	133					0	0	0	0	C	90020655	T	C	90020655	3	2	408	1	0	0	0	0	1	0	0	0	6771	1464	51	5	9937	5	GPR98	5	90020655	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	30438	90020655	90894605	1079	78897											
ERAP1	51752	broad.mit.edu	37	chr5	96112181	96112181	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaccgatgttttcttcAatggtttcaattgtctgttg	8	18	7	8	1	4	0	2	0	2	0	5	1	5	0	2	1	1	3	2	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:96112181A>G	ENST00000296754.3	-	19	3002	c.2745T>C	c.(2743-2745)atT>atC	p.I915I	ERAP1_ENST00000443439.2_Silent_p.I915I	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	915					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TGTTTTCTTCAATGGTTTCAA	0.383													13	95					0	0	0	0	G	96112181	A	G	96112181	2	3	408	1	0	0	0	0	0	0	0	1	5241	126	5	5		5	ERAP1	5	96112181	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6091526	96112181	84803079	1080	78898											
ERAP1	51752	broad.mit.edu	37	chr5	96117518	96117518	+	Frame_Shift_Del	DEL	C	C	-																															ccagccttctgtgctctgggCccccacagcaaacactgcca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:96117518delC	ENST00000296754.3	-	16	2583	c.2326delG	c.(2326-2328)ccfs	p.A776fs	ERAP1_ENST00000514604.1_5'UTR|ERAP1_ENST00000443439.2_Frame_Shift_Del_p.A776fs	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	776					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GTGCTCTGGGCCCCCACAGCA	0.458													14	66	---	---	---	---					-	96117518	C	-	96117518	7	5	408	1	0	1	0	1	0	0	0	0	5241	739	26	0	548	0	ERAP1	5	96117518	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	5337	96117518	84797742	1081	78899											
CHD1	1105	broad.mit.edu	37	chr5	98205478	98205478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcatcatcttcatcagActtctctgaaggcagaggag	11	13	8	9	0	6	3	4	1	2	2	7	4	6	4	0	2	0	1	0	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:98205478A>G	ENST00000284049.3	-	29	4236	c.4087T>C	c.(4087-4089)Tct>Cct	p.S1363P	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1363					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTTCATCAGACTTCTCTGAA	0.323													3	52					0	0	0	0	G	98205478	A	G	98205478	3	3	408	1	0	0	0	0	1	0	0	0	3352	275	10	5	1073	5	CHD1	5	98205478	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2087960	98205478	82709782	1082	78900											
FAM174A	345757	broad.mit.edu	37	chr5	99871267	99871267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgctgctgctgtctcagCcacctcttggcttccgtcct	3	13	9	16	1	2	0	1	0	2	0	5	0	4	0	4	1	4	4	4	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:99871267C>T	ENST00000312637.4	+	1	259	c.33C>T	c.(31-33)agC>agT	p.S11S		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	11						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTGTCTCAGCCACCTCTTGG	0.687													5	188					0	0	0	0	T	99871267	C	T	99871267	2	4	408	1	0	0	0	0	0	0	0	1	5536	738	26	4		4	FAM174A	5	99871267	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1665789	99871267	81043993	1083	78901											
PPIP5K2	23262	broad.mit.edu	37	chr5	102522033	102522033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatcagggtctcactgtgCgggcctgtttagcacctcgg	5	10	12	14	2	2	0	2	0	1	0	4	0	2	0	3	3	2	2	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:102522033C>T	ENST00000321521.9	+	27	3755	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1061					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCACTGTGCGGGCCTGTTT	0.488													25	45					0	0	0	0	T	102522033	C	T	102522033	3	4	408	1	0	0	0	0	1	0	0	0	12409	768	27	1	3284	1	PPIP5K2	5	102522033	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2650766	102522033	78393227	1084	78902											
FER	2241	broad.mit.edu	37	chr5	108523240	108523240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctaagttcagtgaacttcaGaaagagctcactatcatcaa	15	10	6	10	0	5	3	5	1	0	2	5	3	5	3	1	0	2	2	1	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:108523240G>C	ENST00000281092.4	+	20	2817	c.2433G>C	c.(2431-2433)caG>caC	p.Q811H	FER_ENST00000438717.2_Missense_Mutation_p.Q636H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	811	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTGAACTTCAGAAAGAGCTCA	0.443													21	67					0	0	0	0	C	108523240	G	C	108523240	3	2	408	1	0	0	0	0	1	0	0	0	5858	933	33	2	2503	2	FER	5	108523240	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6001207	108523240	72392020	1085	78903											
APC	324	broad.mit.edu	37	chr5	112103073	112103073	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtactggatatttagaagaActtgagaaagagaggtaact	17	10	11	3	0	0	4	0	1	0	4	0	7	0	5	0	2	3	2	0	2	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:112103073A>G	ENST00000457016.1	+	4	788	c.408A>G	c.(406-408)gaA>gaG	p.E136E	APC_ENST00000508376.2_Silent_p.E136E|APC_ENST00000257430.4_Silent_p.E136E			P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTTAGAAGAACTTGAGAAAG	0.333		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			10	79					0	0	0	0	G	112103073	A	G	112103073	2	3	408	1	0	0	0	0	0	0	0	1	764	40	2	5		5	APC	5	112103073	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3579833	112103073	68812187	1086	78904											
APC	324	broad.mit.edu	37	chr5	112174922	112174922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcagtaaaaccgaacatAtgtcttcaagcagtgagaat	18	8	8	7	1	2	1	1	1	1	1	2	3	2	1	1	0	4	3	1	0	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:112174922A>G	ENST00000457016.1	+	16	4011	c.3631A>G	c.(3631-3633)Atg>Gtg	p.M1211V	APC_ENST00000508376.2_Missense_Mutation_p.M1211V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.M1211V			P25054	APC_HUMAN	adenomatous polyposis coli	1211	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.M1211fs*6(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACCGAACATATGTCTTCAAG	0.403		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	87					0	0	0	0	G	112174922	A	G	112174922	3	3	408	1	0	0	0	0	1	0	0	0	764	449	16	5	3689	5	APC	5	112174922	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	71849	112174922	68740338	1087	78905											
APC	324	broad.mit.edu	37	chr5	112177340	112177340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcatttcatgttgaagatAccccagtttgtttctcaaga	12	15	6	8	0	3	3	3	1	1	2	4	3	3	3	2	0	1	3	2	0	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:112177340A>G	ENST00000457016.1	+	16	6429	c.6049A>G	c.(6049-6051)Acc>Gcc	p.T2017A	APC_ENST00000508376.2_Missense_Mutation_p.T2017A|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.T2017A			P25054	APC_HUMAN	adenomatous polyposis coli	2017	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		tgttgaagataccccagtttg	0.418		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			33	90					0	0	0	0	G	112177340	A	G	112177340	3	3	408	1	0	0	0	0	1	0	0	0	764	391	14	5	6107	5	APC	5	112177340	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2418	112177340	68737920	1088	78906											
TSSK1B	83942	broad.mit.edu	37	chr5	112770140	112770140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgaggtcccggtggaCgacgtccaggtcgtggcagt	7	8	15	11	4	0	1	0	1	0	0	3	3	2	2	2	5	0	1	2	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:112770140C>T	ENST00000390666.3	-	1	588	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	133	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V133I(2)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCCCGGTGGACGACGTCCAGG	0.557													18	77					0	0	0	0	T	112770140	C	T	112770140	3	4	408	1	0	0	0	0	1	0	0	0	16763	536	19	1	710	1	TSSK1B	5	112770140	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	592800	112770140	68145120	1089	78907											
SNCAIP	9627	broad.mit.edu	37	chr5	121759250	121759250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatggtcgaaaagttgagaAgacaacaccagactgccagc	15	6	10	10	1	1	3	1	1	0	3	2	5	1	3	2	1	3	1	2	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:121759250A>G	ENST00000261367.7	+	6	2387	c.959A>G	c.(958-960)aAg>aGg	p.K320R	SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.K273R|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.K320R|SNCAIP_ENST00000379533.2_Missense_Mutation_p.K320R|SNCAIP_ENST00000261368.8_Missense_Mutation_p.K273R|SNCAIP_ENST00000414317.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	273					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAAGTTGAGAAGACAACACCA	0.493													17	46					0	0	0	0	G	121759250	A	G	121759250	3	3	408	1	0	0	0	0	1	0	0	0	14929	72	3	5	828	5	SNCAIP	5	121759250	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	8989110	121759250	59156010	1090	78908											
SNX2	6643	broad.mit.edu	37	chr5	122131076	122131076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacagagaagatctttttgCaggtaattgtcatgtattta	12	16	9	4	0	2	3	1	1	1	2	2	4	2	3	0	1	1	3	0	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:122131076C>T	ENST00000379516.2	+	2	332	c.224C>T	c.(223-225)gCa>gTa	p.A75V	SNX2_ENST00000514949.1_5'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	75					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GATCTTTTTGCAGGTAATTGT	0.323													17	55					0	0	0	0	T	122131076	C	T	122131076	3	4	408	1	0	0	0	0	1	0	0	0	14979	710	25	4	230	4	SNX2	5	122131076	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	371826	122131076	58784184	1091	78909											
CEP120	153241	broad.mit.edu	37	chr5	122725654	122725654	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgtccttatcatactgtaAactttccacttcactttctg	8	17	5	11	0	3	0	2	0	1	0	5	0	5	0	2	1	2	1	2	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:122725654A>G	ENST00000306467.5	-	8	1523	c.1219T>C	c.(1219-1221)Tta>Cta	p.L407L	CEP120_ENST00000306481.6_Silent_p.L381L|CEP120_ENST00000328236.5_Silent_p.L407L			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	407						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TCATACTGTAAACTTTCCACT	0.388													4	82					0	0	0	0	G	122725654	A	G	122725654	2	3	408	1	0	0	0	0	0	0	0	1	3275	11	1	5		5	CEP120	5	122725654	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	594578	122725654	58189606	1092	78910											
ZNF608	57507	broad.mit.edu	37	chr5	123984603	123984603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtggaggaagggctggCtttgatatcctcagcagcac	8	10	15	8	0	1	1	1	1	0	0	2	3	2	3	1	5	2	5	1	5	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:123984603C>T	ENST00000306315.5	-	4	1909	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	ZNF608_ENST00000504926.1_Missense_Mutation_p.A65T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	492						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GAAGGGCTGGCTTTGATATCC	0.557													28	95					0	0	0	0	T	123984603	C	T	123984603	3	4	408	1	0	0	0	0	1	0	0	0	18129	797	28	4	3088	4	ZNF608	5	123984603	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1258949	123984603	56930657	1093	78911											
FBN2	2201	broad.mit.edu	37	chr5	127599186	127599186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccgtgttagagcagccgTaattgcaggggttcttggag	7	11	14	9	2	1	1	0	0	1	1	2	2	2	2	3	3	3	5	3	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:127599186T>C	ENST00000508053.1	-	69	9097	c.8123A>G	c.(8122-8124)tAc>tGc	p.Y2708C	FBN2_ENST00000262464.4_Missense_Mutation_p.Y2708C			P35556	FBN2_HUMAN	fibrillin 2	2708	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGAGCAGCCGTAATTGCAGGG	0.597													65	188					0	0	0	0	C	127599186	T	C	127599186	3	2	408	1	0	0	0	0	1	0	0	0	5748	1638	57	5	627	5	FBN2	5	127599186	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3614583	127599186	53316074	1094	78912											
FBN2	2201	broad.mit.edu	37	chr5	127623000	127623000	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgagtctgaggccttacCtttgcacatcttttgatctt	6	16	7	12	1	3	2	0	2	3	0	4	3	4	2	3	1	2	1	3	1	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:127623000C>T	ENST00000508053.1	-	60	7854	c.6880_splice	c.e60+1	p.D2294_splice	FBN2_ENST00000262464.4_Splice_Site_p.D2294_splice			P35556	FBN2_HUMAN	fibrillin 2	2294	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGGCCTTACCTTTGCACATC	0.438													4	150					0	0	0	0	T	127623000	C	T	127623000	5	4	408	1	0	0	0	0	0	0	1	0	5748	695	24	4	1906	4	FBN2	5	127623000	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	23814	127623000	53292260	1095	78913											
FBN2	2201	broad.mit.edu	37	chr5	127647003	127647003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatctcaccttcacagatgCgggtatcctcgctgaggtag	8	11	10	12	2	3	2	3	1	1	1	6	2	4	2	2	2	1	3	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:127647003C>T	ENST00000508053.1	-	45	6037	c.5063G>A	c.(5062-5064)cGc>cAc	p.R1688H	FBN2_ENST00000262464.4_Missense_Mutation_p.R1688H			P35556	FBN2_HUMAN	fibrillin 2	1688	EGF-like 27; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCACAGATGCGGGTATCCTC	0.502													8	44					0	0	0	0	T	127647003	C	T	127647003	3	4	408	1	0	0	0	0	1	0	0	0	5748	768	27	1	3783	1	FBN2	5	127647003	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	24003	127647003	53268257	1096	78914											
FBN2	2201	broad.mit.edu	37	chr5	127681179	127681179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggtgccccaagccgccccGacagcacagcagcaggcatc	9	3	11	18	3	0	0	0	0	0	0	2	1	0	0	5	2	5	4	5	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:127681179G>A	ENST00000508053.1	-	30	4061	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	FBN2_ENST00000508989.1_Silent_p.V996V|FBN2_ENST00000262464.4_Silent_p.V1029V			P35556	FBN2_HUMAN	fibrillin 2	1029	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGCCGCCCCGACAGCACAGC	0.592													51	144					0	0	0	0	A	127681179	G	A	127681179	2	1	408	1	0	0	0	0	0	0	0	1	5748	1045	37	1		1	FBN2	5	127681179	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	34176	127681179	53234081	1097	78915											
ISOC1	51015	broad.mit.edu	37	chr5	128440948	128440948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaaaggtcttgggagcaCggttcaagaaattgatttaa	13	11	10	7	1	2	2	1	1	1	1	2	3	2	3	1	3	1	2	1	3	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:128440948C>T	ENST00000173527.5	+	3	516	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	167						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CTTGGGAGCACGGTTCAAGAA	0.388													17	55					0	0	0	0	T	128440948	C	T	128440948	3	4	408	1	0	0	0	0	1	0	0	0	7915	536	19	1	510	1	ISOC1	5	128440948	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	759769	128440948	52474312	1098	78916											
ADAMTS19	171019	broad.mit.edu	37	chr5	128862006	128862006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctaggtctagaaaaataGcagaaagtggaagagggaaa	19	5	13	4	0	1	3	0	0	1	3	1	6	1	5	1	3	1	1	1	3	8	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:128862006G>A	ENST00000274487.4	+	4	1070	c.925G>A	c.(925-927)Gca>Aca	p.A309T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	309					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAGAAAAATAGCAGAAAGTGG	0.348													13	46					0	0	0	0	A	128862006	G	A	128862006	3	1	408	1	0	0	0	0	1	0	0	0	264	971	34	4	939	4	ADAMTS19	5	128862006	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	421058	128862006	52053254	1099	78917											
FNIP1	96459	broad.mit.edu	37	chr5	131007907	131007907	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctgggcagcctcacAagaaaatgaagcaggcacaa	14	7	10	10	0	2	2	1	1	1	1	2	2	2	2	1	2	2	3	1	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:131007907A>T	ENST00000307968.7	-	13	2145	c.2146T>A	c.(2146-2148)Tgt>Agt	p.C716S	FNIP1_ENST00000307954.8_Missense_Mutation_p.C699S|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.C744S	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCAGCCTCACAAGAAAATGAA	0.453													43	136					0	0	0	0	T	131007907	A	T	131007907	3	4	408	1	0	0	0	0	1	0	0	0	6020	130	5	5	1290	5	FNIP1	5	131007907	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2145901	131007907	49907353	1100	78918											
RAD50	10111	broad.mit.edu	37	chr5	131931411	131931411	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatttgcagtctaaactgCgacttgctccagataaactc	11	12	8	10	1	1	2	0	1	1	1	3	3	2	2	1	0	5	2	1	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:131931411C>T	ENST00000378823.3	+	13	2517	c.1699C>T	c.(1699-1701)Cga>Tga	p.R567*	RAD50_ENST00000265335.6_Nonsense_Mutation_p.R706*	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	706					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	p.R706G(1)|p.R567G(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCTAAACTGCGACTTGCTCC	0.438								Homologous recombination					30	118					0	0	0	0	T	131931411	C	T	131931411	4	4	408	1	0	0	0	0	0	1	0	0	13066	760	27	1	2166	1	RAD50	5	131931411	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	923504	131931411	48983849	1101	78919											
RAD50	10111	broad.mit.edu	37	chr5	131940675	131940675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccactgaagttcagtcttTgtacagagagataaaggtaa	15	11	9	6	0	2	3	1	1	1	2	3	4	3	3	1	1	1	3	1	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:131940675T>C	ENST00000378823.3	+	16	3103	c.2285T>C	c.(2284-2286)tTg>tCg	p.L762S	RAD50_ENST00000265335.6_Missense_Mutation_p.L901S	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	901					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTCAGTCTTTGTACAGAGAG	0.318								Homologous recombination					15	26					0	0	0	0	C	131940675	T	C	131940675	3	2	408	1	0	0	0	0	1	0	0	0	13066	1821	63	5	2764	5	RAD50	5	131940675	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9264	131940675	48974585	1102	78920											
SKP1	6500	broad.mit.edu	37	chr5	133494134	133494134	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcaaagacaaaactgTgtgctacctacctgggcttc	11	11	9	10	0	1	2	1	1	0	1	2	2	1	2	2	1	4	2	2	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:133494134T>C	ENST00000522552.1	-	5	577	c.468A>G	c.(466-468)acA>acG	p.T156T	SKP1_ENST00000521216.1_Intron|SKP1_ENST00000517625.1_Intron|SKP1_ENST00000522855.1_Intron|SKP1_ENST00000353411.6_Intron	NM_006930.3	NP_008861.2	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	157	Interaction with the F-box domain of F- box proteins (By similarity).				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACAAAACTGTGTGCTACCTA	0.408													18	171					0	0	0	0	C	133494134	T	C	133494134	2	2	408	1	0	0	0	0	0	0	0	1	14449	1683	59	5		5	SKP1	5	133494134	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1553459	133494134	47421126	1103	78921											
SEC24A	10802	broad.mit.edu	37	chr5	133997209	133997209	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtatctggaaatacaagTttaaccacaaatcatcaata	18	11	4	8	0	3	0	2	0	1	0	3	1	3	1	1	1	2	2	1	1	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:133997209T>C	ENST00000398844.2	+	2	786	c.498T>C	c.(496-498)agT>agC	p.S166S	SEC24A_ENST00000322887.4_Silent_p.S166S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	166	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAATACAAGTTTAACCACAA	0.363													24	74					0	0	0	0	C	133997209	T	C	133997209	2	2	408	1	0	0	0	0	0	0	0	1	14081	1722	60	5		5	SEC24A	5	133997209	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	503075	133997209	46918051	1104	78922											
SEC24A	10802	broad.mit.edu	37	chr5	134002615	134002615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcccacccccagtgagggCcctcacgcccctgacatcat	8	5	9	19	1	2	2	2	2	0	0	2	2	2	2	6	2	0	0	6	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134002615C>T	ENST00000398844.2	+	3	956	c.668C>T	c.(667-669)gCc>gTc	p.A223V	SEC24A_ENST00000322887.4_Missense_Mutation_p.A223V	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	223	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGTGAGGGCCCTCACGCCC	0.517													17	104					0	0	0	0	T	134002615	C	T	134002615	3	4	408	1	0	0	0	0	1	0	0	0	14081	739	26	4	678	4	SEC24A	5	134002615	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5406	134002615	46912645	1105	78923											
DDX46	9879	broad.mit.edu	37	chr5	134131842	134131842	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatgtctcttcatggaggTaattattcacttgattcaca	10	16	7	8	0	4	1	3	1	1	0	5	2	4	2	0	2	1	2	0	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134131842T>C	ENST00000452510.2	+	15	2112		c.e15+2		DDX46_ENST00000354283.4_Splice_Site	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46						mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCATGGAGGTAATTATTCAC	0.353													5	53					0	0	0	0	C	134131842	T	C	134131842	5	2	408	1	0	0	0	0	0	0	1	0	4396	1652	57	5	2014	5	DDX46	5	134131842	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	129227	134131842	46783418	1106	78924											
TXNDC15	79770	broad.mit.edu	37	chr5	134210145	134210145	+	Frame_Shift_Del	DEL	C	C	-																															cggctgccggtcgacgaccgCcccgcgtcatgcggctcctc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134210145delC	ENST00000358387.4	+	1	653	c.28delC	c.(28-30)ccfs	p.P10fs		NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	10					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGACGACCGCCCCGCGTCAT	0.716													31	72	---	---	---	---					-	134210145	C	-	134210145	7	5	408	1	0	1	0	1	0	0	0	0	16890	739	26	0	30	0	TXNDC15	5	134210145	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	78303	134210145	46705115	1107	78925											
H2AFY	9555	broad.mit.edu	37	chr5	134705782	134705782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgccggggtgtgacccGtcccttcttgttgtctctcg	2	14	13	12	3	2	1	0	1	2	0	5	2	3	1	3	2	1	1	3	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134705782G>A	ENST00000511689.1	-	3	816	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	H2AFY_ENST00000510038.1_Missense_Mutation_p.R75W|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000312469.4_Missense_Mutation_p.R75W|H2AFY_ENST00000304332.4_Missense_Mutation_p.R75W	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	75	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGTGACCCGTCCCTTCTTG	0.562													8	28					0	0	0	0	A	134705782	G	A	134705782	3	1	408	1	0	0	0	0	1	0	0	0	6979	1144	40	1	1018	1	H2AFY	5	134705782	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	495637	134705782	46209478	1108	78926											
TRPC7	57113	broad.mit.edu	37	chr5	135692879	135692879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttgaagttaagggtcttgGactcctccagcattttccgg	8	13	11	9	1	1	1	0	1	1	0	4	2	4	2	3	3	1	3	3	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:135692879G>A	ENST00000513104.1	-	2	479	c.197C>T	c.(196-198)tCc>tTc	p.S66F	TRPC7_ENST00000355180.3_Missense_Mutation_p.S66F|TRPC7_ENST00000426057.2_Missense_Mutation_p.S66F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	66					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGGGTCTTGGACTCCTCCAG	0.592													5	205					0	0	0	0	A	135692879	G	A	135692879	3	1	408	1	0	0	0	0	1	0	0	0	16679	1174	41	2	2435	2	TRPC7	5	135692879	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	987097	135692879	45222381	1109	78927											
SPOCK1	6695	broad.mit.edu	37	chr5	136324330	136324330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaggatgctagtgtcaaAccctgccaaacaaaaggcat	14	6	11	10	0	1	0	1	0	0	0	1	1	1	1	2	3	4	3	2	3	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:136324330A>G	ENST00000394945.1	-	8	878	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.F237L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	237					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTAGTGTCAAACCCTGCCAAA	0.532													12	32					0	0	0	0	G	136324330	A	G	136324330	3	3	408	1	0	0	0	0	1	0	0	0	15169	43	2	5	626	5	SPOCK1	5	136324330	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	631451	136324330	44590930	1110	78928											
PKD2L2	27039	broad.mit.edu	37	chr5	137241900	137241900	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgattttacagattggTggcagaattccctgcaactg	11	12	9	9	0	0	3	0	1	0	2	1	3	1	3	2	2	4	2	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137241900T>C	ENST00000508638.1	+	6	807	c.752T>C	c.(751-753)gTg>gCg	p.V251A	PKD2L2_ENST00000350250.4_Missense_Mutation_p.V217A|PKD2L2_ENST00000502810.1_Missense_Mutation_p.V251A|PKD2L2_ENST00000508883.1_Missense_Mutation_p.V251A|PKD2L2_ENST00000290431.5_Missense_Mutation_p.V251A	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	251						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACAGATTGGTGGCAGAATTC	0.343													27	60					0	0	0	0	C	137241900	T	C	137241900	3	2	408	1	0	0	0	0	1	0	0	0	12040	1696	59	5	774	5	PKD2L2	5	137241900	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	917570	137241900	43673360	1111	78929											
BRD8	10902	broad.mit.edu	37	chr5	137501707	137501707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgatagaattgatgAtcatggatatttcactgctg	10	17	8	6	0	3	4	2	3	1	1	3	5	3	5	0	1	1	1	0	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137501707A>G	ENST00000254900.5	-	11	1459	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	BRD8_ENST00000455658.2_Missense_Mutation_p.I322T|BRD8_ENST00000411594.2_Missense_Mutation_p.I366T|BRD8_ENST00000402931.1_Missense_Mutation_p.I363T|BRD8_ENST00000230901.5_Missense_Mutation_p.I436T	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	363					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGAATTGATGATCATGGATAT	0.468													6	157					0	0	0	0	G	137501707	A	G	137501707	3	3	408	1	0	0	0	0	1	0	0	0	1514	333	12	5	2751	5	BRD8	5	137501707	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	259807	137501707	43413553	1112	78930											
CDC25C	995	broad.mit.edu	37	chr5	137666820	137666820	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacctaaaactgggtcctGagccagagcttccttcctct	9	11	8	13	0	1	3	0	1	1	2	4	3	4	3	5	1	3	1	5	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137666820G>T	ENST00000323760.6	-	2	328	c.50C>A	c.(49-51)tCa>tAa	p.S17*	CDC25C_ENST00000514555.1_Nonsense_Mutation_p.S17*|CDC25C_ENST00000415130.2_Nonsense_Mutation_p.S17*|CDC25C_ENST00000513970.1_Nonsense_Mutation_p.S17*|CDC25C_ENST00000357274.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000356505.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000348983.3_Nonsense_Mutation_p.S17*	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	17					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTGGGTCCTGAGCCAGAGCT	0.463													41	78					1.48646e-12	1.5486e-12	1	0	T	137666820	G	T	137666820	4	4	408	1	0	0	0	0	0	1	0	0	3093	1294	45	2	1423	2	CDC25C	5	137666820	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	165113	137666820	43248440	1113	78931											
ETF1	2107	broad.mit.edu	37	chr5	137848560	137848560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaataaacagctgcacagCagtctctgctactttccgaa	14	9	7	11	1	1	1	0	0	1	1	3	2	2	1	1	0	6	4	1	0	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137848560C>T	ENST00000499810.2	-	6	974	c.526G>A	c.(526-528)Gct>Act	p.A176T	ETF1_ENST00000503014.1_Missense_Mutation_p.A195T|ETF1_ENST00000360541.5_Missense_Mutation_p.A209T			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	209					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTGCACAGCAGTCTCTGCT	0.428													35	90					0	0	0	0	T	137848560	C	T	137848560	3	4	408	1	0	0	0	0	1	0	0	0	5306	710	25	4	712	4	ETF1	5	137848560	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	181740	137848560	43066700	1114	78932											
HSPA9	3313	broad.mit.edu	37	chr5	137902705	137902705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctctctcttgaactcCttcacaatgtgccgtagcaa	9	12	5	15	1	4	1	2	1	2	0	6	1	5	1	3	0	3	2	3	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137902705C>A	ENST00000297185.3	-	8	989	c.864G>T	c.(862-864)aaG>aaT	p.K288N		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	288					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTTGAACTCCTTCACAATGT	0.413													47	168					1.83081e-24	1.93732e-24	1	0	A	137902705	C	A	137902705	3	1	408	1	0	0	0	0	1	0	0	0	7469	680	24	4	1215	4	HSPA9	5	137902705	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	54145	137902705	43012555	1115	78933											
CTNNA1	1495	broad.mit.edu	37	chr5	138160345	138160345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgatgtcgcagcctataagGccaacagggacctgatatac	12	8	10	11	1	0	2	0	2	0	0	1	3	0	3	3	2	3	1	3	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:138160345G>A	ENST00000302763.7	+	6	805	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	CTNNA1_ENST00000518825.1_Missense_Mutation_p.A239T|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A136T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	239					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCCTATAAGGCCAACAGGGA	0.567													4	102					0	0	0	0	A	138160345	G	A	138160345	3	1	408	1	0	0	0	0	1	0	0	0	4044	1203	42	4	733	4	CTNNA1	5	138160345	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	257640	138160345	42754915	1116	78934											
CTNNA1	1495	broad.mit.edu	37	chr5	138260997	138260997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggaagccctcagctcGgaccctgcccagcccatgga	7	5	12	17	2	1	0	1	0	0	0	2	3	1	3	5	3	4	1	5	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:138260997G>A	ENST00000302763.7	+	13	1890	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	CTNNA1_ENST00000518825.1_Silent_p.S600S|CTNNA1_ENST00000540387.1_Silent_p.S230S|CTNNA1_ENST00000355078.5_Silent_p.S497S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	600					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	p.S600S(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCTCAGCTCGGACCCTGCCC	0.537													31	54					0	0	0	0	A	138260997	G	A	138260997	2	1	408	1	0	0	0	0	0	0	0	1	4044	1103	39	1		1	CTNNA1	5	138260997	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	100652	138260997	42654263	1117	78935											
SLC4A9	83697	broad.mit.edu	37	chr5	139752342	139752342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccacagtcagagctgatgTatcagccaaaggctccagaa	13	8	9	11	0	2	3	2	1	0	2	4	3	4	3	3	1	2	3	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:139752342T>C	ENST00000230993.6	+	21	2946	c.2911T>C	c.(2911-2913)Tat>Cat	p.Y971H	CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Missense_Mutation_p.Y971H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.Y947H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.Y884H|SLC4A9_ENST00000432095.2_Missense_Mutation_p.Y933H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	971	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTGATGTATCAGCCAAA	0.463											OREG0016847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	5					0	0	0	0	C	139752342	T	C	139752342	3	2	408	1	0	0	0	0	1	0	0	0	14748	1638	57	5	2921	5	SLC4A9	5	139752342	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1491345	139752342	41162918	1118	78936											
ANKHD1	54882	broad.mit.edu	37	chr5	139918959	139918959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatttggcctggcacgTgggcacctcatattggaaac	9	11	11	10	1	2	1	2	0	0	1	2	2	2	2	2	4	1	2	2	4	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:139918959T>C	ENST00000360839.2	+	34	7739	c.7585T>C	c.(7585-7587)Tgg>Cgg	p.W2529R	ANKHD1_ENST00000297183.6_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Intron|ANKHD1_ENST00000544120.1_Missense_Mutation_p.W853R	NM_017747.2	NP_060217.1			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCACGTGGGCACCTCA	0.363													48	147					0	0	0	0	C	139918959	T	C	139918959	3	2	408	1	0	0	0	0	1	0	0	0	628	1696	59	5	7825	5	ANKHD1	5	139918959	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	166617	139918959	40996301	1119	78937											
APBB3	10307	broad.mit.edu	37	chr5	139938224	139938224	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcatcaagaaaagagaaGacaccccgctttcgaggggt	15	5	12	9	2	1	3	1	0	0	3	2	5	1	3	2	3	0	2	2	3	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:139938224G>C	ENST00000357560.4	-	13	1850	c.1407C>G	c.(1405-1407)gtC>gtG	p.V469V	APBB3_ENST00000356738.2_Silent_p.V474V|APBB3_ENST00000412920.3_Silent_p.V467V|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Silent_p.V246V|APBB3_ENST00000354402.5_Silent_p.V476V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	469						actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGAGAAGACACCCCGCT	0.597													69	168					0	0	0	0	C	139938224	G	C	139938224	2	2	408	1	0	0	0	0	0	0	0	1	763	929	33	2		2	APBB3	5	139938224	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	19265	139938224	40977036	1120	78938											
HARS	3035	broad.mit.edu	37	chr5	140054660	140054660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctttcctctagcagcttcTtctgtgcagatgccacaagc	7	13	8	13	0	4	1	0	0	4	1	5	1	5	1	2	0	5	3	2	0	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140054660T>C	ENST00000504366.1	-	10	2865	c.1046A>G	c.(1045-1047)aAg>aGg	p.K349R	HARS_ENST00000448240.1_Missense_Mutation_p.K223R|HARS_ENST00000438307.2_Missense_Mutation_p.K378R|HARS_ENST00000431330.2_Missense_Mutation_p.K304R|HARS_ENST00000457527.2_Missense_Mutation_p.K398R|HARS_ENST00000307633.3_Missense_Mutation_p.K358R|HARS_ENST00000415192.2_Missense_Mutation_p.K344R|HARS_ENST00000504156.1_Missense_Mutation_p.K418R			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	418					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TAGCAGCTTCTTCTGTGCAGA	0.537													31	89					0	0	0	0	C	140054660	T	C	140054660	3	2	408	1	0	0	0	0	1	0	0	0	7009	1609	56	5	288	5	HARS	5	140054660	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	116436	140054660	40860600	1121	78939											
PCDHA1	56147	broad.mit.edu	37	chr5	140166205	140166205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacctggagttgatcgcCgacaggccgctgcaggtttt	7	10	12	12	3	0	1	0	1	0	0	2	3	1	2	4	3	1	4	4	3	0	3	rs138474048		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140166205C>T	ENST00000504120.2	+	1	330	c.330C>T	c.(328-330)gcC>gcT	p.A110A	PCDHA1_ENST00000394633.3_Silent_p.A110A|PCDHA1_ENST00000378133.3_Silent_p.A110A	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGATCGCCGACAGGCCGC	0.498													44	147					0	0	0	0	T	140166205	C	T	140166205	2	4	408	1	0	0	0	0	0	0	0	1	11590	639	23	1		1	PCDHA1	5	140166205	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	111545	140166205	40749055	1122	78940											
PCDHA1	56147	broad.mit.edu	37	chr5	140166235	140166235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggttttccatgtggaGgtgaaggtgaaagacattaa	12	11	13	5	0	0	3	0	2	0	1	1	4	1	4	1	4	1	2	1	4	3	3	rs138016369	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140166235G>C	ENST00000504120.2	+	1	360	c.360G>C	c.(358-360)gaG>gaC	p.E120D	PCDHA1_ENST00000394633.3_Missense_Mutation_p.E120D|PCDHA1_ENST00000378133.3_Missense_Mutation_p.E120D	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATGTGGAGGTGAAGGTGA	0.512													37	137					0	0	0	0	C	140166235	G	C	140166235	3	2	408	1	0	0	0	0	1	0	0	0	11590	991	35	4	362	4	PCDHA1	5	140166235	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	30	140166235	40749025	1123	78941											
PCDHA1	56147	broad.mit.edu	37	chr5	140167344	140167344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcaggagaacgcgctggTgtcctattcgctggtggaac	7	8	15	11	5	0	1	0	0	0	1	2	3	1	2	1	4	2	3	1	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140167344T>C	ENST00000504120.2	+	1	1469	c.1469T>C	c.(1468-1470)gTg>gCg	p.V490A	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V490A|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V490A	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCGCTGGTGTCCTATTCG	0.657													34	137					0	0	0	0	C	140167344	T	C	140167344	3	2	408	1	0	0	0	0	1	0	0	0	11590	1696	59	5	1471	5	PCDHA1	5	140167344	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1109	140167344	40747916	1124	78942											
PCDHA2	56146	broad.mit.edu	37	chr5	140176132	140176132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctggaccacgaggaagTggagctgctgcagttccagg	8	6	16	11	2	0	0	0	0	0	0	1	4	1	3	3	4	3	5	3	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140176132T>C	ENST00000526136.1	+	1	1583	c.1583T>C	c.(1582-1584)gTg>gCg	p.V528A	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V528A|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V528A|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAGGAAGTGGAGCTGCTG	0.682													65	157					0	0	0	0	C	140176132	T	C	140176132	3	2	408	1	0	0	0	0	1	0	0	0	11595	1696	59	5	1585	5	PCDHA2	5	140176132	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	8788	140176132	40739128	1125	78943											
PCDHA3	56145	broad.mit.edu	37	chr5	140182072	140182072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgactgctcgggacggGggctcgccttcactgtgggc	3	9	18	11	3	1	1	1	1	0	0	3	2	1	2	1	5	1	2	1	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140182072G>A	ENST00000522353.2	+	1	1290	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.G430G|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGGACGGGGGCTCGCCTT	0.627													70	222					0	0	0	0	A	140182072	G	A	140182072	2	1	408	1	0	0	0	0	0	0	0	1	11596	1219	43	4		4	PCDHA3	5	140182072	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5940	140182072	40733188	1126	78944											
PCDHA5	56143	broad.mit.edu	37	chr5	140203059	140203059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgcgccggcgctgctggtgCctcgagtgggtggcaccggc	3	6	18	14	6	0	0	0	0	0	0	1	1	0	0	3	5	2	3	3	5	0	0	rs17844296		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140203059C>T	ENST00000529859.1	+	1	1699	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	PCDHA5_ENST00000378126.3_Missense_Mutation_p.P567S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P567S|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCTGGTGCCTCGAGTGGG	0.716													15	233					0	0	0	0	T	140203059	C	T	140203059	3	4	408	1	0	0	0	0	1	0	0	0	11598	739	26	4	1701	4	PCDHA5	5	140203059	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	20987	140203059	40712201	1127	78945											
PCDHA6	56142	broad.mit.edu	37	chr5	140208740	140208740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagatagcactgacttcctTatccttgcctgtacgtgaag	9	13	9	10	1	0	3	0	3	0	1	2	4	2	3	3	0	3	2	3	0	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140208740T>C	ENST00000529310.1	+	1	1178	c.1064T>C	c.(1063-1065)tTa>tCa	p.L355S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.L355S|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACTTCCTTATCCTTGCCT	0.502													47	144					0	0	0	0	C	140208740	T	C	140208740	3	2	408	1	0	0	0	0	1	0	0	0	11599	1764	61	5	1066	5	PCDHA6	5	140208740	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5681	140208740	40706520	1128	78946											
PCDHA6	56142	broad.mit.edu	37	chr5	140209817	140209817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcctgctggtcctcaCgctactgctgtacacagcgc	7	9	9	16	2	1	0	1	0	0	0	3	0	3	0	3	1	6	4	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140209817C>T	ENST00000529310.1	+	1	2255	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.T714M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706													5	176					0	0	0	0	T	140209817	C	T	140209817	3	4	408	1	0	0	0	0	1	0	0	0	11599	536	19	1	2143	1	PCDHA6	5	140209817	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1077	140209817	40705443	1129	78947											
PCDHA7	56141	broad.mit.edu	37	chr5	140214061	140214061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggcagggagaggccagctCcactactcggtccccgagga	9	4	15	13	2	0	1	0	0	0	1	3	5	2	2	4	5	2	2	4	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140214061C>T	ENST00000525929.1	+	1	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L31L	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCCAGCTCCACTACTCGG	0.597													40	125					0	0	0	0	T	140214061	C	T	140214061	2	4	408	1	0	0	0	0	0	0	0	1	11600	842	30	2		2	PCDHA7	5	140214061	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4244	140214061	40701199	1130	78948											
PCDHA8	56140	broad.mit.edu	37	chr5	140221772	140221772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagccttgttgaaactatggTtattgaccactttagcatag	11	15	8	7	0	0	2	0	2	0	0	0	2	0	2	2	1	3	3	2	1	6	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140221772T>C	ENST00000531613.1	+	1	866	c.866T>C	c.(865-867)gTt>gCt	p.V289A	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V289A|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACTATGGTTATTGACCAC	0.378													29	88					0	0	0	0	C	140221772	T	C	140221772	3	2	408	1	0	0	0	0	1	0	0	0	11601	1725	60	5	868	5	PCDHA8	5	140221772	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7711	140221772	40693488	1131	78949											
PCDHA9	9752	broad.mit.edu	37	chr5	140229613	140229613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagctacgtgtcagtgcaCgcggagagcggcaaggtgta	9	7	16	9	5	1	1	1	0	0	1	2	3	1	1	0	3	4	4	0	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140229613C>T	ENST00000378122.3	+	1	2257	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.H511H|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAGTGCACGCGGAGAGCG	0.701													64	205					0	0	0	0	T	140229613	C	T	140229613	2	4	408	1	0	0	0	0	0	0	0	1	11602	535	19	1		1	PCDHA9	5	140229613	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	7841	140229613	40685647	1132	78950											
PCDHA10	56139	broad.mit.edu	37	chr5	140236622	140236622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagggaaacccacctatggTtggtcactgcacggtcctag	10	9	11	11	1	1	0	1	0	0	0	2	1	2	1	3	4	2	2	3	4	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140236622T>C	ENST00000307360.5	+	1	989	c.989T>C	c.(988-990)gTt>gCt	p.V330A	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V330A|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTATGGTTGGTCACTGC	0.408													25	117					0	0	0	0	C	140236622	T	C	140236622	3	2	408	1	0	0	0	0	1	0	0	0	11591	1725	60	5	991	5	PCDHA10	5	140236622	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7009	140236622	40678638	1133	78951											
PCDHA10	56139	broad.mit.edu	37	chr5	140236912	140236912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagctggtggtgaccgcgCgggacgggggctcgcctccg	4	6	19	12	6	0	2	0	2	0	0	2	3	1	3	3	5	1	2	3	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140236912C>T	ENST00000307360.5	+	1	1279	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427W|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGGGACGGGGG	0.647													85	235					0	0	0	0	T	140236912	C	T	140236912	3	4	408	1	0	0	0	0	1	0	0	0	11591	759	27	1	1281	1	PCDHA10	5	140236912	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	290	140236912	40678348	1134	78952											
PCDHA10	56139	broad.mit.edu	37	chr5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtctgcgtgggacGcggacgcgcaggagaacgcc	7	5	17	12	7	2	1	1	0	1	1	2	4	2	3	1	4	2	1	1	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662													48	201					0	0	0	0	A	140237074	G	A	140237074	3	1	408	1	0	0	0	0	1	0	0	0	11591	1087	38	1	1443	1	PCDHA10	5	140237074	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	162	140237074	40678186	1135	78953											
PCDHA11	56138	broad.mit.edu	37	chr5	140250599	140250599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaacgcgtgccctggaCgaggcagactcgccgcgcca	9	3	13	16	6	0	1	0	0	0	1	1	3	0	2	3	2	3	2	3	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140250599C>T	ENST00000398640.2	+	1	1911	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1												p.D637D(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAGGCAGACT	0.662													34	115					0	0	0	0	T	140250599	C	T	140250599	2	4	408	1	0	0	0	0	0	0	0	1	11592	535	19	1		1	PCDHA11	5	140250599	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	13525	140250599	40664661	1136	78954											
PCDHA12	56137	broad.mit.edu	37	chr5	140255808	140255808	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcccagctataaagtagtgTtgtctgaaaatgtccaaaac	15	10	8	8	0	1	1	0	1	1	0	2	1	2	1	2	0	3	3	2	0	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140255808T>C	ENST00000398631.2	+	1	751	c.751T>C	c.(751-753)Ttg>Ctg	p.L251L	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGTAGTGTTGTCTGAAAA	0.423													7	143					0	0	0	0	C	140255808	T	C	140255808	2	2	408	1	0	0	0	0	0	0	0	1	11593	1722	60	5		5	PCDHA12	5	140255808	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5209	140255808	40659452	1137	78955											
PCDHA12	56137	broad.mit.edu	37	chr5	140256700	140256700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgccgcctctgggcagcaAcgtgacgctgcaggtgttcg	5	8	15	13	5	1	1	0	1	1	0	2	1	1	1	2	2	4	5	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140256700A>G	ENST00000398631.2	+	1	1643	c.1643A>G	c.(1642-1644)aAc>aGc	p.N548S	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGCAGCAACGTGACGCTG	0.682													79	252					0	0	0	0	G	140256700	A	G	140256700	3	3	408	1	0	0	0	0	1	0	0	0	11593	43	2	5	1645	5	PCDHA12	5	140256700	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	892	140256700	40658560	1138	78956											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308431	140308431	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactttcctcctctgtcactCtgggtgtgctgttgagcaac	5	14	9	13	0	3	1	1	1	2	0	5	1	5	1	2	1	3	3	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140308431C>T	ENST00000253807.2	+	1	1954	c.1954C>T	c.(1954-1956)Ctg>Ttg	p.L652L	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L652L|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCACTCTGGGTGTGCT	0.522													33	92					0	0	0	0	T	140308431	C	T	140308431	2	4	408	1	0	0	0	0	0	0	0	1	11603	912	32	2		2	PCDHAC1	5	140308431	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	51731	140308431	40606829	1139	78957											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346540	140346540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgggcaacgtggctcgCgcgctggggcttgagctgcg	3	8	18	12	6	0	1	0	1	0	0	2	1	0	1	0	4	3	5	0	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140346540C>T	ENST00000289269.5	+	1	721	c.189C>T	c.(187-189)cgC>cgT	p.R63R	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		63	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGGCTCGCGCGCTGGGGC	0.692													12	30					0	0	0	0	T	140346540	C	T	140346540	2	4	408	1	0	0	0	0	0	0	0	1	11604	755	27	1		1	PCDHAC2	5	140346540	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	38109	140346540	40568720	1140	78958											
PCDHB3	56132	broad.mit.edu	37	chr5	140481581	140481581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcaatgacaacgcccccGccttcacccaaatctcctac	11	7	4	19	3	3	1	2	1	1	0	4	1	3	1	5	0	2	0	5	0	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140481581G>A	ENST00000231130.2	+	1	1348	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		450	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCCCGCCTTCACCCA	0.562													84	214					0	0	0	0	A	140481581	G	A	140481581	3	1	408	1	0	0	0	0	1	0	0	0	11614	1087	38	1	1350	1	PCDHB3	5	140481581	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	135041	140481581	40433679	1141	78959											
PCDHB4	56131	broad.mit.edu	37	chr5	140502502	140502502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgaaaaaaaaattggatTtcgaaaaaattaaatcttac	20	13	5	3	1	1	1	0	1	1	0	2	3	1	2	0	1	1	1	0	1	10	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140502502T>C	ENST00000194152.1	+	1	922	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		308	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATTGGATTTCGAAAAAAT	0.363													17	233					0	0	0	0	C	140502502	T	C	140502502	3	2	408	1	0	0	0	0	1	0	0	0	11615	1841	64	5	924	5	PCDHB4	5	140502502	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	20921	140502502	40412758	1142	78960											
PCDHB6	56130	broad.mit.edu	37	chr5	140531261	140531261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggcagcgtcagcgccacaGacagagactcaggcatcaac	12	4	11	14	3	3	2	3	0	0	2	4	3	3	2	1	2	3	2	1	2	1	0	rs17844436		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140531261G>A	ENST00000231136.1	+	1	1423	c.1423G>A	c.(1423-1425)Gac>Aac	p.D475N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D339N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		475	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGCCACAGACAGAGACTC	0.637													30	333					0	0	0	0	A	140531261	G	A	140531261	3	1	408	1	0	0	0	0	1	0	0	0	11617	942	33	2	1425	2	PCDHB6	5	140531261	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	28759	140531261	40383999	1143	78961											
PCDHB7	56129	broad.mit.edu	37	chr5	140554213	140554213	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	7	6	14	14	5	0	1	0	0	0	1	2	3	0	1	3	3	3	3	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140554213C>T	ENST00000231137.3	+	1	1971	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		599	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.711													42	492					0	0	0	0	T	140554213	C	T	140554213	2	4	408	1	0	0	0	0	0	0	0	1	11618	535	19	1		1	PCDHB7	5	140554213	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	22952	140554213	40361047	1144	78962											
PCDHB7	56129	broad.mit.edu	37	chr5	140554771	140554771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggaagtggaagaaaatcgCccatttcagaataatttggg	15	9	12	5	1	1	2	1	0	0	2	2	4	1	4	1	3	0	0	1	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140554771C>T	ENST00000231137.3	+	1	2529	c.2355C>T	c.(2353-2355)cgC>cgT	p.R785R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		785					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAAATCGCCCATTTCAGA	0.448													12	413					0	0	0	0	T	140554771	C	T	140554771	2	4	408	1	0	0	0	0	0	0	0	1	11618	726	26	4		4	PCDHB7	5	140554771	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	558	140554771	40360489	1145	78963											
PCDHB8	56128	broad.mit.edu	37	chr5	140559068	140559068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactcgggcaccaacGcccaggtcacctactcgctg	10	5	10	16	3	1	1	1	0	0	1	3	2	1	1	3	2	2	2	3	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140559068G>A	ENST00000239444.2	+	1	1698	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		485	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCACCAACGCCCAGGTCAC	0.652													81	1744					0	0	0	0	A	140559068	G	A	140559068	3	1	408	1	0	0	0	0	1	0	0	0	11619	1087	38	1	1455	1	PCDHB8	5	140559068	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4297	140559068	40356192	1146	78964											
PCDHB8	56128	broad.mit.edu	37	chr5	140559417	140559417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcgactcgggccagaacgCctggctgtcgtaccagctgc	6	6	14	15	5	0	1	0	0	0	1	2	2	0	1	3	3	4	3	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140559417C>T	ENST00000239444.2	+	1	2047	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		601	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCAGAACGCCTGGCTGTCG	0.721													6	285					0	0	0	0	T	140559417	C	T	140559417	3	4	408	1	0	0	0	0	1	0	0	0	11619	739	26	4	1804	4	PCDHB8	5	140559417	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	349	140559417	40355843	1147	78965											
PCDHB16	57717	broad.mit.edu	37	chr5	140563444	140563444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgaaaacggagcacaacaTaacagtgcagatatcagatg	17	6	10	8	1	1	3	1	1	0	2	1	4	1	4	0	1	5	3	0	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140563444T>A	ENST00000361016.2	+	1	2465	c.1310T>A	c.(1309-1311)aTa>aAa	p.I437K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		437	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCACAACATAACAGTGCAG	0.512													5	194					0	0	0	0	A	140563444	T	A	140563444	3	1	408	1	0	0	0	0	1	0	0	0	11612	1406	49	5	1312	5	PCDHB16	5	140563444	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4027	140563444	40351816	1148	78966											
PCDHB16	57717	broad.mit.edu	37	chr5	140563545	140563545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccccgccctgcacatcGgcagcgtcagcgccacagac	9	3	10	19	4	1	1	1	0	0	1	2	1	1	1	4	1	4	2	4	1	0	0	rs143024827		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140563545G>A	ENST00000361016.2	+	1	2566	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		471	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACATCGGCAGCGTCAG	0.622													4	144					0	0	0	0	A	140563545	G	A	140563545	3	1	408	1	0	0	0	0	1	0	0	0	11612	1116	39	1	1413	1	PCDHB16	5	140563545	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	101	140563545	40351715	1149	78967											
PCDHB16	57717	broad.mit.edu	37	chr5	140563856	140563856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctccgcgccctgcactgaGctggtgccccgggcggccga	3	5	16	17	5	0	1	0	1	0	0	1	2	1	1	5	4	3	3	5	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140563856G>A	ENST00000361016.2	+	1	2877	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		574	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACTGAGCTGGTGCCCC	0.697													5	178					0	0	0	0	A	140563856	G	A	140563856	2	1	408	1	0	0	0	0	0	0	0	1	11612	962	34	4		4	PCDHB16	5	140563856	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	311	140563856	40351404	1150	78968											
PCDHB10	56126	broad.mit.edu	37	chr5	140573530	140573530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaacaacagccccgccctgCacatcggcagcgtcagcgcc	10	3	10	18	4	1	1	1	0	0	1	2	1	1	1	4	1	6	2	4	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140573530C>T	ENST00000239446.4	+	1	1589	c.1405C>T	c.(1405-1407)Cac>Tac	p.H469Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		469	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCGCCCTGCACATCGGCAG	0.652													71	349					0	0	0	0	T	140573530	C	T	140573530	3	4	408	1	0	0	0	0	1	0	0	0	11606	710	25	4	1407	4	PCDHB10	5	140573530	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	9674	140573530	40341730	1151	78969											
PCDHB10	56126	broad.mit.edu	37	chr5	140573811	140573811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaactcgcccttcgtgctGtacccgctgcagaacggctc	7	8	10	16	4	0	1	0	0	0	1	3	2	0	1	2	1	5	5	2	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140573811G>A	ENST00000239446.4	+	1	1870	c.1686G>A	c.(1684-1686)ctG>ctA	p.L562L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		562					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTCGTGCTGTACCCGCTGC	0.731													24	129					0	0	0	0	A	140573811	G	A	140573811	2	1	408	1	0	0	0	0	0	0	0	1	11606	1364	48	4		4	PCDHB10	5	140573811	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	281	140573811	40341449	1152	78970											
PCDHB11	56125	broad.mit.edu	37	chr5	140580930	140580930	+	Missense_Mutation	SNP	A	A	G																															cgaggccctgcaggctttcgActtccgcgtgggcgccacag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140580930A>G	ENST00000354757.3	+	1	1583	c.1583A>G	c.(1582-1584)gAc>gGc	p.D528G	PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163G	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		528	Cadherin 5.		D -> E (in dbSNP:rs799834).		calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCTTTCGACTTCCGCGTG	0.677													25	243					0	0	0	0	G	140580930	A	G	140580930	3	3	408	1	0	0	0	0	1	0	0	0	11607	275	10	5	1585	5	PCDHB11	5	140580930	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7119	140580930	40334330	1153	78971	1038	2									
PCDHB11	56125	broad.mit.edu	37	chr5	140580935	140580935	+	Missense_Mutation	SNP	C	C	T																															ccctgcaggctttcgacttcCgcgtgggcgccacagaccgc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140580935C>T	ENST00000354757.3	+	1	1588	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R165C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGACTTCCGCGTGGGCGC	0.672													66	183					0	0	0	0	T	140580935	C	T	140580935	3	4	408	1	0	0	0	0	1	0	0	0	11607	652	23	1	1590	1	PCDHB11	5	140580935	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5	140580935	40334325	1154	78972	1038	2									
PCDHB12	56124	broad.mit.edu	37	chr5	140589601	140589601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggatacgagacagagaCtctggggacaacggaaagat	15	6	13	7	2	2	3	1	0	1	3	2	8	2	6	0	4	2	0	0	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140589601C>A	ENST00000239450.2	+	1	1311	c.1122C>A	c.(1120-1122)gaC>gaA	p.D374E	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D37E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		374	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			GAGACAGAGACTCTGGGGACA	0.443													15	64					6.31663e-08	6.50258e-08	1	0	A	140589601	C	A	140589601	3	1	408	1	0	0	0	0	1	0	0	0	11608	564	20	4	1124	4	PCDHB12	5	140589601	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	8666	140589601	40325659	1155	78973											
PCDHB13	56123	broad.mit.edu	37	chr5	140595075	140595075	+	Silent	SNP	C	C	T																															acctcctacaccctgttcgtCcgcgagaacaacagccccgc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140595075C>T	ENST00000341948.4	+	1	1567	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		460	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGTTCGTCCGCGAGAACA	0.607													6	355					0	0	0	0	T	140595075	C	T	140595075	2	4	408	1	0	0	0	0	0	0	0	1	11609	842	30	2		2	PCDHB13	5	140595075	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5474	140595075	40320185	1156	78974	1039	2									
PCDHB13	56123	broad.mit.edu	37	chr5	140595076	140595076	+	Missense_Mutation	SNP	C	C	T																															cctcctacaccctgttcgtcCgcgagaacaacagccccgcc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140595076C>T	ENST00000341948.4	+	1	1568	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.602													6	359					0	0	0	0	T	140595076	C	T	140595076	3	4	408	1	0	0	0	0	1	0	0	0	11609	652	23	1	1383	1	PCDHB13	5	140595076	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1	140595076	40320184	1157	78975	1039	2									
PCDHB14	56122	broad.mit.edu	37	chr5	140603627	140603627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttctacattaaaattcccGacagtagtgacagaaagata	17	10	6	8	1	1	3	0	1	1	2	2	4	2	3	1	0	1	1	1	0	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140603627G>A	ENST00000239449.4	+	1	550	c.550G>A	c.(550-552)Gac>Aac	p.D184N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.D31N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAAATTCCCGACAGTAGTGA	0.418													27	95					0	0	0	0	A	140603627	G	A	140603627	3	1	408	1	0	0	0	0	1	0	0	0	11610	1058	37	1	552	1	PCDHB14	5	140603627	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	8551	140603627	40311633	1158	78976											
PCDHB14	56122	broad.mit.edu	37	chr5	140604247	140604247	+	Frame_Shift_Del	DEL	T	T	-																															tctattcaagataacctcccTtttttcctgaaaccgacctt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140604247delT	ENST00000239449.4	+	1	1170	c.1170delT	c.(1168-1170)ccfs	p.P390fs	PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.P237fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAACCTCCCTTTTTTCCTGA	0.443													8	223	---	---	---	---					-	140604247	T	-	140604247	7	5	408	1	0	1	0	1	0	0	0	0	11610	1596	56	0	1172	0	PCDHB14	5	140604247	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	620	140604247	40311013	1159	78977											
PCDHB14	56122	broad.mit.edu	37	chr5	140604639	140604639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccctcaggtcgctggactAcgaggccctacaggagttcg	7	8	13	13	3	1	0	1	0	0	0	3	3	1	2	2	4	3	2	2	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140604639A>G	ENST00000239449.4	+	1	1562	c.1562A>G	c.(1561-1563)tAc>tGc	p.Y521C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Y368C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		521	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCTGGACTACGAGGCCCTA	0.687													68	208					0	0	0	0	G	140604639	A	G	140604639	3	3	408	1	0	0	0	0	1	0	0	0	11610	391	14	5	1564	5	PCDHB14	5	140604639	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	392	140604639	40310621	1160	78978											
PCDHB14	56122	broad.mit.edu	37	chr5	140605320	140605320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgggaccctgtcccagaGctaccaatacgaggtgtgtc	9	7	11	14	2	0	1	0	0	0	1	2	3	1	2	4	2	3	1	4	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140605320G>C	ENST00000239449.4	+	1	2243	c.2243G>C	c.(2242-2244)aGc>aCc	p.S748T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S595T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		748					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTCCCAGAGCTACCAATAC	0.582													54	214					0	0	0	0	C	140605320	G	C	140605320	3	2	408	1	0	0	0	0	1	0	0	0	11610	971	34	4	2245	4	PCDHB14	5	140605320	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	681	140605320	40309940	1161	78979											
TAF7	6879	broad.mit.edu	37	chr5	140698689	140698689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagagccagattttccactTtcatgatgagatcctcttgt	9	15	8	9	0	2	4	1	3	1	3	4	6	4	4	3	0	1	0	3	0	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140698689T>A	ENST00000313368.5	-	1	1641	c.923A>T	c.(922-924)aAa>aTa	p.K308I		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	308					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTCCACTTTCATGATGAG	0.453													3	29					0	0	0	0	A	140698689	T	A	140698689	3	1	408	1	0	0	0	0	1	0	0	0	15623	1841	64	5	130	5	TAF7	5	140698689	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	93369	140698689	40216571	1162	78980											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712134	140712134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgggcgaggtgcgcaCggcgcgagccctgctggaca	7	3	17	14	6	0	0	0	0	0	0	0	3	0	1	1	4	3	3	1	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140712134C>T	ENST00000517417.1	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T628M	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697													31	91					0	0	0	0	T	140712134	C	T	140712134	3	4	408	1	0	0	0	0	1	0	0	0	11621	536	19	1	1885	1	PCDHGA1	5	140712134	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	13445	140712134	40203126	1163	78981											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724107	140724107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcattaactccctgcagaaCtacaagcttagccccaatga	13	8	7	13	0	0	2	0	1	0	1	1	2	1	2	3	1	6	3	3	1	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140724107C>A	ENST00000253812.6	+	1	507	c.507C>A	c.(505-507)aaC>aaA	p.N169K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.N169K(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGCAGAACTACAAGCTTA	0.493													41	151					1.7489e-18	1.84115e-18	1	0	A	140724107	C	A	140724107	3	1	408	1	0	0	0	0	1	0	0	0	11626	564	20	4	509	4	PCDHGA3	5	140724107	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	11973	140724107	40191153	1164	78982											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735666	140735666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaattctctgagtggggAtataacaatattggggggtc	10	13	14	4	0	1	2	0	2	1	0	3	3	1	3	0	5	1	1	0	5	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140735666A>G	ENST00000571252.1	+	1	899	c.899A>G	c.(898-900)gAt>gGt	p.D300G	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAGTGGGGATATAACAATA	0.438													12	34					0	0	0	0	G	140735666	A	G	140735666	3	3	408	1	0	0	0	0	1	0	0	0	11627	333	12	5	901	5	PCDHGA4	5	140735666	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	11559	140735666	40179594	1165	78983											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741839	140741840	+	Frame_Shift_Ins	INS	-	-	A																															ggtgattctggcaatctcccINStgcgcctgcgactctcttcc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140741839_140741840insA	ENST00000522605.1	+	1	2137_2138	c.2137_2138insA	c.(2137-2139)gcgfs	p.A713fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.L713L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAATCTCCCTGCGCCTGCGA	0.569													33	152	---	---	---	---					A	140741840	-	A	140741839	7	5	408	1	0	1	1	0	0	0	0	0	11634	680	24	0	2139	0	PCDHGB2	5	140741839	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	6173	140741839	40173421	1166	78984											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745300	140745300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagaaaacaatcccagagGtgtctctatcttctctgtga	12	11	7	11	0	3	3	0	1	3	2	6	3	4	3	1	1	1	0	1	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140745300G>A	ENST00000518069.1	+	1	1403	c.1403G>A	c.(1402-1404)gGt>gAt	p.G468D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCCAGAGGTGTCTCTATC	0.542													5	322					0	0	0	0	A	140745300	G	A	140745300	3	1	408	1	0	0	0	0	1	0	0	0	11628	1261	44	4	1405	4	PCDHGA5	5	140745300	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3461	140745300	40169960	1167	78985											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751974	140751974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatagcttgcaagagatAcaacctgaccttagcgaccg	13	7	10	11	2	0	3	0	1	0	2	0	5	0	3	3	0	5	3	3	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140751974A>G	ENST00000576222.1	+	1	2144	c.2013A>G	c.(2011-2013)atA>atG	p.I671M	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAGAGATACAACCTGACC	0.582													7	163					0	0	0	0	G	140751974	A	G	140751974	3	3	408	1	0	0	0	0	1	0	0	0	11635	381	14	5	2015	5	PCDHGB3	5	140751974	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6674	140751974	40163286	1168	78986											
PCDHGB3	56102	broad.mit.edu	37	chr5	140752069	140752069	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgatctcagtgctctTcctcctcgcggtgattctgg	3	14	11	13	2	3	2	1	2	3	0	7	2	5	2	3	3	1	1	3	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140752069T>A	ENST00000576222.1	+	1	2239	c.2108T>A	c.(2107-2109)tTc>tAc	p.F703Y	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGCTCTTCCTCCTCGCG	0.582													6	165					0	0	0	0	A	140752069	T	A	140752069	3	1	408	1	0	0	0	0	1	0	0	0	11635	1783	62	5	2110	5	PCDHGB3	5	140752069	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	95	140752069	40163191	1169	78987											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754749	140754749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccaggaacagtaatcGccctttttcaagtgttcgat	10	12	7	12	2	1	0	1	0	0	0	4	2	2	1	3	1	1	2	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140754749G>A	ENST00000517434.1	+	1	1099	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGTAATCGCCCTTTTTCA	0.433													35	114					0	0	0	0	A	140754749	G	A	140754749	3	1	408	1	0	0	0	0	1	0	0	0	11629	1087	38	1	1101	1	PCDHGA6	5	140754749	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2680	140754749	40160511	1170	78988											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768737	140768737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagatcggggcaagcctcCcctctcctccagttccagca	9	7	8	17	1	1	1	0	0	1	1	6	1	4	1	6	2	3	3	6	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140768737C>T	ENST00000519479.1	+	1	1286	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAGCCTCCCCTCTCCTCC	0.488													5	228					0	0	0	0	T	140768737	C	T	140768737	3	4	408	1	0	0	0	0	1	0	0	0	11636	623	22	4	1288	4	PCDHGB4	5	140768737	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	13988	140768737	40146523	1171	78989											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769676	140769676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggttccccccaactacaGcgaggggactttgccttatt	7	11	10	13	2	0	0	0	0	0	0	1	2	1	1	4	3	4	1	4	3	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140769676G>A	ENST00000519479.1	+	1	2225	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACTACAGCGAGGGGACT	0.512													107	308					0	0	0	0	A	140769676	G	A	140769676	3	1	408	1	0	0	0	0	1	0	0	0	11636	971	34	4	2227	4	PCDHGB4	5	140769676	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	939	140769676	40145584	1172	78990											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773130	140773130	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccgatttaccgagtgaaAgtccttgagaacatgccccc	11	8	8	14	2	0	2	0	2	0	1	1	5	1	2	5	0	3	0	5	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140773130A>G	ENST00000398604.2	+	1	750	c.750A>G	c.(748-750)aaA>aaG	p.K250K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGTGAAAGTCCTTGAGA	0.542													57	139					0	0	0	0	G	140773130	A	G	140773130	2	3	408	1	0	0	0	0	0	0	0	1	11631	69	3	5		5	PCDHGA8	5	140773130	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3454	140773130	40142130	1173	78991											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799272	140799272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggccagtgagcccgggCtcttcagcctggggctgcga	5	7	16	13	2	2	1	1	1	1	0	2	2	2	1	3	4	4	3	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140799272C>A	ENST00000398594.2	+	1	1846	c.1846C>A	c.(1846-1848)Ctc>Atc	p.L616I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCCGGGCTCTTCAGCCT	0.662													44	124					2.13384e-23	2.25745e-23	1	0	A	140799272	C	A	140799272	3	1	408	1	0	0	0	0	1	0	0	0	11639	797	28	4	1848	4	PCDHGB7	5	140799272	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	26142	140799272	40115988	1174	78992											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811955	140811955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgggcacccgcccctcagCagcaacgtgtcgttgagcct	8	6	11	16	4	1	1	1	1	0	0	2	1	1	1	4	1	5	4	4	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140811955C>T	ENST00000252085.3	+	1	1771	c.1629C>T	c.(1627-1629)agC>agT	p.S543S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCTCAGCAGCAACGTGT	0.622													88	260					0	0	0	0	T	140811955	C	T	140811955	2	4	408	1	0	0	0	0	0	0	0	1	11624	709	25	4		4	PCDHGA12	5	140811955	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	12683	140811955	40103305	1175	78993											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812493	140812493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcgctggcacaagtcaCgcctgctgcaggcttcagga	7	7	14	13	3	2	0	2	0	0	0	2	1	2	1	1	4	3	5	1	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140812493C>T	ENST00000252085.3	+	1	2309	c.2167C>T	c.(2167-2169)Cgc>Tgc	p.R723C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAAGTCACGCCTGCTGCA	0.657													61	172					0	0	0	0	T	140812493	C	T	140812493	3	4	408	1	0	0	0	0	1	0	0	0	11624	536	19	1	2169	1	PCDHGA12	5	140812493	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	538	140812493	40102767	1176	78994											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857741	140857742	+	Frame_Shift_Ins	INS	-	-	A																															gctctgccccccgggagcagINSaaaaaaaatctcacctttta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140857741_140857742insA	ENST00000308177.3	+	1	2162_2163	c.2058_2059insA	c.(2056-2061)caaaaafs	p.QK686fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGGAGCAGAAAAAAAATCT	0.5											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	400	---	---	---	---					A	140857742	-	A	140857741	7	5	408	1	0	1	1	0	0	0	0	0	11640	933	33	0	2060	0	PCDHGC3	5	140857741	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	45248	140857741	40057519	1177	78995											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869557	140869557	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagttctacgtgtgggAatcccagagaatgcacccat	10	10	9	12	1	2	1	1	0	1	1	4	3	4	2	3	1	2	2	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140869557A>G	ENST00000252087.1	+	1	750	c.750A>G	c.(748-750)ggA>ggG	p.G250G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		250	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGTGTGGGAATCCCAGAGA	0.547													6	304					0	0	0	0	G	140869557	A	G	140869557	2	3	408	1	0	0	0	0	0	0	0	1	11642	233	9	5		5	PCDHGC5	5	140869557	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	11816	140869557	40045703	1178	78996											
PCDHGA12	26025	broad.mit.edu	37	chr5	140885038	140885038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagccatgatcttggcGtccgccagtggtaagtggtg	7	10	14	10	2	1	1	0	1	1	0	2	1	2	1	3	3	2	2	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140885038G>A	ENST00000252085.3	+	3	2704	c.2562G>A	c.(2560-2562)gcG>gcA	p.A854A	PCDHGB3_ENST00000576222.1_Silent_p.A851A|PCDHGA2_ENST00000394576.2_Silent_p.A854A|PCDHGA4_ENST00000571252.1_Silent_p.A853A|PCDHGA9_ENST00000573521.1_Silent_p.A854A|PCDHGB1_ENST00000523390.1_Silent_p.A849A|PCDHGA3_ENST00000253812.6_Silent_p.A854A|PCDHGA7_ENST00000518325.1_Silent_p.A854A|PCDHGA5_ENST00000518069.1_Silent_p.A853A|PCDHGB2_ENST00000522605.1_Silent_p.A853A|PCDHGA1_ENST00000517417.1_Silent_p.A853A|PCDHGA6_ENST00000517434.1_Silent_p.A854A|PCDHGA11_ENST00000398587.2_Silent_p.A857A|PCDHGA10_ENST00000398610.2_Silent_p.A858A|PCDHGB6_ENST00000520790.1_Silent_p.A852A|PCDHGC3_ENST00000308177.3_Silent_p.A856A|PCDHGB4_ENST00000519479.1_Silent_p.A845A|PCDHGC4_ENST00000306593.1_Silent_p.A860A|PCDHGA11_ENST00000518882.1_Silent_p.A672A|PCDHGB7_ENST00000398594.2_Silent_p.A851A|PCDHGC5_ENST00000252087.1_Silent_p.A866A|PCDHGA8_ENST00000398604.2_Silent_p.A854A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTTGGCGTCCGCCAGTG	0.572													38	152					0	0	0	0	A	140885038	G	A	140885038	2	1	408	1	0	0	0	0	0	0	0	1	11624	1132	40	1		1	PCDHGA12	5	140885038	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	15481	140885038	40030222	1179	78997											
HDAC3	8841	broad.mit.edu	37	chr5	141009296	141009296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcgttgacatagcagAagccagaggcctatggcaag	13	7	12	9	1	0	3	0	1	0	2	1	3	0	3	2	2	2	3	2	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:141009296A>G	ENST00000305264.3	-	6	510	c.431T>C	c.(430-432)tTc>tCc	p.F144S		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	144	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GACATAGCAGAAGCCAGAGGC	0.542													8	154					0	0	0	0	G	141009296	A	G	141009296	3	3	408	1	0	0	0	0	1	0	0	0	7058	246	9	5	895	5	HDAC3	5	141009296	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	124258	141009296	39905964	1180	78998											
PCDH12	51294	broad.mit.edu	37	chr5	141335448	141335448	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcattggtgacattgacgaAcagctgccccgtatgagggt	9	9	14	9	2	0	3	0	3	0	0	0	4	0	3	2	3	3	3	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:141335448A>T	ENST00000231484.3	-	1	3179	c.1969T>A	c.(1969-1971)Ttc>Atc	p.F657I		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	657	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATTGACGAACAGCTGCCCC	0.572													12	45					0	0	0	0	T	141335448	A	T	141335448	3	4	408	1	0	0	0	0	1	0	0	0	11581	43	2	5	1601	5	PCDH12	5	141335448	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	326152	141335448	39579812	1181	78999											
PLAC8L1	153770	broad.mit.edu	37	chr5	145464016	145464016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaccagggtgtccttagtCattgggactgcacagatttc	10	11	10	10	0	1	1	1	0	0	1	3	2	2	2	2	2	2	1	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:145464016C>T	ENST00000311450.4	-	4	570	c.513G>A	c.(511-513)atG>atA	p.M171I		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	171										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCTTAGTCATTGGGACTG	0.517													19	159					0	0	0	0	T	145464016	C	T	145464016	3	4	408	1	0	0	0	0	1	0	0	0	12088	826	29	2	24	2	PLAC8L1	5	145464016	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4128568	145464016	35451244	1182	79000											
TCERG1	10915	broad.mit.edu	37	chr5	145838593	145838593	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaggctcaggcccaggcGcaggctcaggcccaggcaca	8	2	15	16	2	2	0	2	0	0	0	2	0	2	0	2	6	0	5	2	6	0	0	rs140816235	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:145838593G>A	ENST00000296702.5	+	4	623	c.585G>A	c.(583-585)gcG>gcA	p.A195A	TCERG1_ENST00000394421.2_Silent_p.A195A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	195	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.A195A(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggcccaggcgcaggctcagg	0.667													16	57					0	0	0	0	A	145838593	G	A	145838593	2	1	408	1	0	0	0	0	0	0	0	1	15779	1074	38	1		1	TCERG1	5	145838593	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	374577	145838593	35076667	1183	79001											
TCERG1	10915	broad.mit.edu	37	chr5	145838817	145838817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtagcccagcacctgcagTatccacttcaacatcatcat	12	9	5	15	0	3	0	3	0	0	0	4	0	4	0	3	0	4	4	3	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:145838817T>C	ENST00000296702.5	+	4	847	c.809T>C	c.(808-810)gTa>gCa	p.V270A	TCERG1_ENST00000394421.2_Missense_Mutation_p.V270A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	270	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACCTGCAGTATCCACTTCA	0.557													4	213					0	0	0	0	C	145838817	T	C	145838817	3	2	408	1	0	0	0	0	1	0	0	0	15779	1638	57	5	823	5	TCERG1	5	145838817	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	224	145838817	35076443	1184	79002											
DPYSL3	1809	broad.mit.edu	37	chr5	146798109	146798109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggaagtgagtatggaCatcgatgcctccagggatca	11	9	12	9	1	2	1	1	1	1	0	4	5	3	4	2	3	1	1	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:146798109C>T	ENST00000343218.5	-	3	753	c.556G>A	c.(556-558)Gtc>Atc	p.V186I	DPYSL3_ENST00000398514.3_Missense_Mutation_p.V72I|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	72					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTATGGACATCGATGCCT	0.483													53	160					0	0	0	0	T	146798109	C	T	146798109	3	4	408	1	0	0	0	0	1	0	0	0	4784	478	17	4	1546	4	DPYSL3	5	146798109	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	959292	146798109	34117151	1185	79003											
SCGB3A2	117156	broad.mit.edu	37	chr5	147261109	147261109	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatccattaaagcttctTctgaaaactctgggcatttc	11	14	7	9	0	3	1	0	1	3	0	5	2	4	2	1	2	2	2	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:147261109T>C	ENST00000296694.4	+	2	249	c.156T>C	c.(154-156)ctT>ctC	p.L52L	SCGB3A2_ENST00000504320.1_Silent_p.L7L|SCGB3A2_ENST00000514688.1_3'UTR|C5orf46_ENST00000510432.1_Intron	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	52						extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGCTTCTTCTGAAAACTC	0.473													38	111					0	0	0	0	C	147261109	T	C	147261109	2	2	408	1	0	0	0	0	0	0	0	1	13988	1770	62	5		5	SCGB3A2	5	147261109	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	463000	147261109	33654151	1186	79004											
FBXO38	81545	broad.mit.edu	37	chr5	147781675	147781675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcttttagcattccaggagtCctagaagctttgcaggcatg	9	12	11	9	0	0	1	0	0	0	1	2	2	2	2	2	2	3	5	2	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:147781675C>T	ENST00000340253.5	+	4	561	c.393C>T	c.(391-393)gtC>gtT	p.V131V	FBXO38_ENST00000296701.6_Silent_p.V131V|FBXO38_ENST00000513826.1_Silent_p.V131V|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Silent_p.V131V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	131						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAGGAGTCCTAGAAGCTT	0.443													13	168					0	0	0	0	T	147781675	C	T	147781675	2	4	408	1	0	0	0	0	0	0	0	1	5791	842	30	2		2	FBXO38	5	147781675	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	520566	147781675	33133585	1187	79005											
SH3TC2	79628	broad.mit.edu	37	chr5	148431758	148431758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgtattcagatgaggctAtacactcactcgatacagtt	11	13	7	10	1	2	2	2	1	0	1	3	3	2	2	1	1	2	3	1	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:148431758A>G	ENST00000515425.1	-	2	199	c.98T>C	c.(97-99)aTa>aCa	p.I33T	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.I33T	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	33							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGAGGCTATACACTCACT	0.388													4	172					0	0	0	0	G	148431758	A	G	148431758	3	3	408	1	0	0	0	0	1	0	0	0	14350	449	16	5	3832	5	SH3TC2	5	148431758	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	650083	148431758	32483502	1188	79006											
PDE6A	5145	broad.mit.edu	37	chr5	149265933	149265933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagtagcgcttcagctttCccgtctggaagggcaatcag	9	10	12	10	2	3	1	2	1	1	0	4	2	4	2	1	2	2	4	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:149265933C>A	ENST00000255266.5	-	14	1852	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	578					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTTCAGCTTTCCCGTCTGGAA	0.532													12	40					0.00010058	0.000102188	1	0	A	149265933	C	A	149265933	3	1	408	1	0	0	0	0	1	0	0	0	11716	855	30	2	885	2	PDE6A	5	149265933	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	834175	149265933	31649327	1189	79007											
SLC26A2	1836	broad.mit.edu	37	chr5	149360191	149360191	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgttgtagcagccacattAgcctctcattttggaaaact	10	14	8	9	0	1	0	1	0	1	0	2	1	1	1	2	1	4	4	2	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:149360191A>G	ENST00000286298.4	+	3	1303	c.1035A>G	c.(1033-1035)ttA>ttG	p.L345L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	345						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGCCACATTAGCCTCTCATT	0.383													4	92					0	0	0	0	G	149360191	A	G	149360191	2	3	408	1	0	0	0	0	0	0	0	1	14605	417	15	5		5	SLC26A2	5	149360191	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	94258	149360191	31555069	1190	79008											
ARSI	340075	broad.mit.edu	37	chr5	149677774	149677774	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggactgcaggggtgtgtgtActgcctggaaggccacatag	8	8	17	8	0	0	0	0	0	0	0	0	2	0	2	2	5	3	2	2	5	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:149677774A>G	ENST00000328668.7	-	2	1292	c.713T>C	c.(712-714)gTa>gCa	p.V238A		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	238						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTGTGTGTACTGCCTGGAA	0.622													16	61					0	0	0	0	G	149677774	A	G	149677774	3	3	408	1	0	0	0	0	1	0	0	0	998	391	14	5	1000	5	ARSI	5	149677774	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	317583	149677774	31237486	1191	79009											
TCOF1	6949	broad.mit.edu	37	chr5	149769567	149769567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcagatggcaagaaacAggagggaccagccactcagg	15	4	13	9	0	2	2	2	0	0	2	2	5	2	4	2	4	2	1	2	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:149769567A>G	ENST00000451292.1	+	20	3383	c.3275A>G	c.(3274-3276)cAg>cGg	p.Q1092R	TCOF1_ENST00000439160.2_Missense_Mutation_p.Q1055R|TCOF1_ENST00000504761.2_Missense_Mutation_p.Q1055R|TCOF1_ENST00000445265.2_Missense_Mutation_p.Q978R|TCOF1_ENST00000323668.7_Missense_Mutation_p.Q978R|TCOF1_ENST00000513346.1_Missense_Mutation_p.Q1092R|TCOF1_ENST00000377797.3_Missense_Mutation_p.Q1055R			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1055					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAAGAAACAGGAGGGACCA	0.597													12	30					0	0	0	0	G	149769567	A	G	149769567	3	3	408	1	0	0	0	0	1	0	0	0	15802	188	7	5	3260	5	TCOF1	5	149769567	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	91793	149769567	31145693	1192	79010											
GM2A	2760	broad.mit.edu	37	chr5	150646297	150646297	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttttttaccaggtggaTttagttttggagaaggaggt	9	18	12	2	0	0	1	0	0	0	1	0	4	0	3	1	5	1	1	1	5	3	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:150646297T>C	ENST00000357164.3	+	3	574	c.249T>C	c.(247-249)gaT>gaC	p.D83D		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	83						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCAGGTGGATTTAGTTTTGG	0.408													29	66					0	0	0	0	C	150646297	T	C	150646297	2	2	408	1	0	0	0	0	0	0	0	1	6535	1490	52	5		5	GM2A	5	150646297	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	876730	150646297	30268963	1193	79011											
FAT2	2196	broad.mit.edu	37	chr5	150923823	150923823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagttggatcacaggggTctgagcaggcaagccttctg	10	8	13	10	0	3	1	1	1	2	0	3	2	3	2	1	4	3	3	1	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:150923823T>C	ENST00000261800.5	-	9	6877	c.6865A>G	c.(6865-6867)Acc>Gcc	p.T2289A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2289	Cadherin 20.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCACAGGGGTCTGAGCAGGC	0.502													10	128					0	0	0	0	C	150923823	T	C	150923823	3	2	408	1	0	0	0	0	1	0	0	0	5735	1667	58	5	6244	5	FAT2	5	150923823	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	277526	150923823	29991437	1194	79012											
G3BP1	10146	broad.mit.edu	37	chr5	151179896	151179896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaatcagagcttaaagAtttctttcaaagtaggttat	15	13	8	5	0	3	2	2	0	1	2	3	3	3	3	0	2	1	3	0	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:151179896A>T	ENST00000394123.3	+	10	1218	c.1073A>T	c.(1072-1074)gAt>gTt	p.D358V	G3BP1_ENST00000356245.3_Missense_Mutation_p.D358V|G3BP1_ENST00000543466.1_Missense_Mutation_p.D176V			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	358	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GAGCTTAAAGATTTCTTTCAA	0.403													19	52					0	0	0	0	T	151179896	A	T	151179896	3	4	408	1	0	0	0	0	1	0	0	0	6189	333	12	5	1107	5	G3BP1	5	151179896	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	256073	151179896	29735364	1195	79013											
NMUR2	56923	broad.mit.edu	37	chr5	151784435	151784435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaagaggtagtagttGgtgggcgtcttcatagcctg	8	11	16	6	1	2	2	1	1	1	1	2	2	2	2	1	4	1	4	1	4	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:151784435G>A	ENST00000255262.3	-	1	405	c.240C>T	c.(238-240)acC>acT	p.T80T	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	80					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGTAGTAGTTGGTGGGCGTCT	0.552													44	117					0	0	0	0	A	151784435	G	A	151784435	2	1	408	1	0	0	0	0	0	0	0	1	10577	1335	47	4		4	NMUR2	5	151784435	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	604539	151784435	29130825	1196	79014											
GRIA1	2890	broad.mit.edu	37	chr5	153078486	153078486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgagggcaatgaccgttaCgagggctactgtgtagagct	9	11	14	7	2	0	3	0	2	0	1	0	4	0	3	1	2	3	5	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153078486C>T	ENST00000285900.5	+	10	1648	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	GRIA1_ENST00000518142.1_Silent_p.Y355Y|GRIA1_ENST00000521843.2_Silent_p.Y366Y|GRIA1_ENST00000518783.1_Silent_p.Y445Y|GRIA1_ENST00000448073.4_Silent_p.Y445Y|GRIA1_ENST00000340592.5_Silent_p.Y435Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	435					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGACCGTTACGAGGGCTACT	0.517													18	78					0	0	0	0	T	153078486	C	T	153078486	2	4	408	1	0	0	0	0	0	0	0	1	6817	547	19	1		1	GRIA1	5	153078486	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1294051	153078486	27836774	1197	79015											
GRIA1	2890	broad.mit.edu	37	chr5	153085393	153085393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccaagccgggtgtcttctCcttccttgatcctttggctt	4	16	8	13	1	2	1	0	1	2	0	6	1	5	1	5	2	1	1	5	2	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153085393C>T	ENST00000285900.5	+	11	1932	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	GRIA1_ENST00000518142.1_Missense_Mutation_p.S450F|GRIA1_ENST00000521843.2_Missense_Mutation_p.S461F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S540F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S540F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S530F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	530					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGTCTTCTCCTTCCTTGAT	0.438													49	134					0	0	0	0	T	153085393	C	T	153085393	3	4	408	1	0	0	0	0	1	0	0	0	6817	855	30	2	1631	2	GRIA1	5	153085393	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	6907	153085393	27829867	1198	79016											
GALNT10	55568	broad.mit.edu	37	chr5	153677561	153677561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagagagtggatcaggcatAccgagaaaatggatttaaca	16	8	12	5	1	1	3	1	1	0	2	1	7	1	5	1	3	2	1	1	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153677561A>G	ENST00000297107.6	+	3	460	c.323A>G	c.(322-324)tAc>tGc	p.Y108C	GALNT10_ENST00000377661.2_Missense_Mutation_p.Y108C|GALNT10_ENST00000425427.2_Missense_Mutation_p.Y108C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	108						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GATCAGGCATACCGAGAAAAT	0.428													40	123					0	0	0	0	G	153677561	A	G	153677561	3	3	408	1	0	0	0	0	1	0	0	0	6257	391	14	5	333	5	GALNT10	5	153677561	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	592168	153677561	27237699	1199	79017											
GALNT10	55568	broad.mit.edu	37	chr5	153795360	153795360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggtattcaccttcacctgGagagaggacatccggcctgg	9	8	12	12	1	2	1	2	0	0	1	3	4	3	3	4	5	0	1	4	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153795360G>C	ENST00000297107.6	+	11	1658	c.1521G>C	c.(1519-1521)tgG>tgC	p.W507C	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.W180C|GALNT10_ENST00000377661.2_Missense_Mutation_p.W445C|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	507	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCTTCACCTGGAGAGAGGACA	0.473													49	158					0	0	0	0	C	153795360	G	C	153795360	3	2	408	1	0	0	0	0	1	0	0	0	6257	1183	41	2	1563	2	GALNT10	5	153795360	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	117799	153795360	27119900	1200	79018											
SAP30L	79685	broad.mit.edu	37	chr5	153832994	153832994	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgcaggtgaacaccctAcgacgttataaacgacacta	14	7	8	12	3	0	1	0	1	0	0	0	3	0	1	1	1	5	3	1	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153832994A>G	ENST00000297109.6	+	3	1005	c.357A>G	c.(355-357)ctA>ctG	p.L119L	SAP30L_ENST00000426761.2_Silent_p.L73L|SAP30L_ENST00000523198.1_3'UTR|SAP30L_ENST00000440364.2_Silent_p.L78L	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGAACACCCTACGACGTTATA	0.483													21	78					0	0	0	0	G	153832994	A	G	153832994	2	3	408	1	0	0	0	0	0	0	0	1	13921	378	14	5		5	SAP30L	5	153832994	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	37634	153832994	27082266	1201	79019											
CNOT8	9337	broad.mit.edu	37	chr5	154250343	154250343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttatgacatcaggagTggttctctgtgacaatgtca	9	13	11	8	0	3	2	2	2	1	0	4	3	3	3	0	2	1	3	0	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:154250343T>C	ENST00000517876.1	+	5	910	c.434T>C	c.(433-435)gTg>gCg	p.V145A	CNOT8_ENST00000523698.1_Missense_Mutation_p.V39A|CNOT8_ENST00000285896.6_Missense_Mutation_p.V145A|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000403027.2_Missense_Mutation_p.V145A|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000521583.1_Missense_Mutation_p.V39A|CNOT8_ENST00000520671.1_Missense_Mutation_p.V39A|CNOT8_ENST00000521450.1_Missense_Mutation_p.V39A			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	145					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACATCAGGAGTGGTTCTCTGT	0.443													54	128					0	0	0	0	C	154250343	T	C	154250343	3	2	408	1	0	0	0	0	1	0	0	0	3655	1696	59	5	444	5	CNOT8	5	154250343	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	417349	154250343	26664917	1202	79020											
ADAM19	8728	broad.mit.edu	37	chr5	156957825	156957825	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcttacctaattcctcGgcaagtgctgagcgtgacgc	7	11	11	12	3	1	2	0	2	1	0	4	2	2	2	2	2	3	2	2	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:156957825G>A	ENST00000257527.4	-	5	475	c.397C>T	c.(397-399)Cga>Tga	p.R133*	ADAM19_ENST00000394020.1_Nonsense_Mutation_p.R135*|ADAM19_ENST00000517905.1_Nonsense_Mutation_p.R133*|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	133			R -> Q (in a colorectal cancer sample; somatic mutation).		proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAATTCCTCGGCAAGTGCTG	0.557													23	49					0	0	0	0	A	156957825	G	A	156957825	4	1	408	1	0	0	0	0	0	1	0	0	240	1124	39	1	2435	1	ADAM19	5	156957825	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2707482	156957825	23957435	1203	79021											
EBF1	1879	broad.mit.edu	37	chr5	158139231	158139231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaattggacattgcggCagagccgtatccgttcatgc	9	9	11	12	3	1	1	1	0	0	1	2	2	2	2	3	2	3	3	3	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:158139231C>T	ENST00000313708.6	-	14	1762	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.A463T|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	494	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACATTGCGGCAGAGCCGTAT	0.577			T	HMGA2	lipoma								7	38					0	0	0	0	T	158139231	C	T	158139231	3	4	408	1	0	0	0	0	1	0	0	0	4916	710	25	4	307	4	EBF1	5	158139231	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1181406	158139231	22776029	1204	79022											
RNF145	153830	broad.mit.edu	37	chr5	158603773	158603773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacaattgtctccaaaggaAcaaggcagagtcgtgctagc	14	8	10	9	1	1	1	0	0	1	1	3	2	1	2	1	2	4	2	1	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:158603773A>G	ENST00000424310.2	-	5	847	c.488T>C	c.(487-489)gTt>gCt	p.V163A	RNF145_ENST00000521606.2_Missense_Mutation_p.V180A|RNF145_ENST00000519865.1_Missense_Mutation_p.V163A|RNF145_ENST00000520638.1_Missense_Mutation_p.V177A|RNF145_ENST00000274542.2_Missense_Mutation_p.V191A|RNF145_ENST00000518802.1_Missense_Mutation_p.V193A	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	163						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAAAGGAACAAGGCAGAG	0.388													10	25					0	0	0	0	G	158603773	A	G	158603773	3	3	408	1	0	0	0	0	1	0	0	0	13532	43	2	5	1531	5	RNF145	5	158603773	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	464542	158603773	22311487	1205	79023											
ATP10B	23120	broad.mit.edu	37	chr5	160044886	160044886	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaccttcttggcaatgcaTagtgtgcgcaggccatctct	7	13	9	12	1	2	0	0	0	2	0	3	0	2	0	2	2	3	3	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:160044886T>C	ENST00000327245.5	-	16	3357	c.2511A>G	c.(2509-2511)ctA>ctG	p.L837L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	837					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGCAATGCATAGTGTGCGCA	0.418													21	60					0	0	0	0	C	160044886	T	C	160044886	2	2	408	1	0	0	0	0	0	0	0	1	1121	1393	49	5		5	ATP10B	5	160044886	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1441113	160044886	20870374	1206	79024											
GABRA1	2554	broad.mit.edu	37	chr5	161324371	161324371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatctttaacttagtctaCtgggctacgtatttaaacag	12	14	8	7	1	2	0	0	0	2	0	2	1	2	1	0	2	4	2	0	2	8	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:161324371C>T	ENST00000428797.2	+	11	1669	c.1314C>T	c.(1312-1314)taC>taT	p.Y438Y	GABRA1_ENST00000023897.6_Silent_p.Y438Y|GABRA1_ENST00000420560.1_Silent_p.Y438Y|GABRA1_ENST00000444819.1_Silent_p.Y438Y|GABRA1_ENST00000437025.2_Silent_p.Y438Y|GABRA1_ENST00000393943.4_Silent_p.Y438Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	438					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACTTAGTCTACTGGGCTACGT	0.433													43	133					0	0	0	0	T	161324371	C	T	161324371	2	4	408	1	0	0	0	0	0	0	0	1	6208	576	20	4		4	GABRA1	5	161324371	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1279485	161324371	19590889	1207	79025											
PANK3	79646	broad.mit.edu	37	chr5	167986153	167986156	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															gtttccaacaaagacaactcTgtttattttctaaaagaaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:167986153_167986156delTGTT	ENST00000239231.6	-	6	1259_1262	c.943_946delAACA	c.(943-948)gafs	p.NR315fs	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	315					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AAGACAACTCTGTTTATTTTCTAA	0.25													8	29	---	---	---	---					-	167986156	TGTT	-	167986153	7	5	408	1	0	1	0	1	0	0	0	0	11489	1588	55	0	174	0	PANK3	5	167986153	Frame_Shift_Del	DEL	TGTT	TCGA-F7-A624-01A-22D-A30E-08	6661782	167986153	12929107	1208	79026											
SLIT3	6586	broad.mit.edu	37	chr5	168093656	168093656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcataacctttctggcggcGgatcacctctcggactactt	7	12	9	13	3	3	0	1	0	2	0	4	2	3	2	2	4	3	1	2	4	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:168093656G>A	ENST00000519560.1	-	36	4794	c.4375C>T	c.(4375-4377)Cgc>Tgc	p.R1459C	SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466C|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1459	CTCK.				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.R1459S(2)		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)			TTCTGGCGGCGGATCACCTCT	0.607													22	71					0	0	0	0	A	168093656	G	A	168093656	3	1	408	1	0	0	0	0	1	0	0	0	14829	1116	39	1	200	1	SLIT3	5	168093656	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	107503	168093656	12821604	1209	79027											
SLIT3	6586	broad.mit.edu	37	chr5	168180952	168180952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcatcagctcctgcacGctggctgctccatcgaaagc	8	8	10	15	2	2	0	2	0	0	0	5	1	4	0	2	1	5	6	2	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:168180952G>A	ENST00000519560.1	-	17	2165	c.1746C>T	c.(1744-1746)agC>agT	p.S582S	SLIT3_ENST00000332966.8_Silent_p.S582S|SLIT3_ENST00000404867.3_Silent_p.S582S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	582					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCCTGCACGCTGGCTGCTC	0.552													10	31					0	0	0	0	A	168180952	G	A	168180952	2	1	408	1	0	0	0	0	0	0	0	1	14829	1078	38	1		1	SLIT3	5	168180952	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	87296	168180952	12734308	1210	79028											
SLIT3	6586	broad.mit.edu	37	chr5	168244337	168244337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttcttctgcacatccGccacgttgaagcccctcaaa	9	10	5	17	2	3	1	1	1	2	0	5	1	5	1	5	0	2	2	5	0	2	3	rs148711550	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:168244337G>A	ENST00000519560.1	-	8	1180	c.761C>T	c.(760-762)gCg>gTg	p.A254V	SLIT3_ENST00000332966.8_Missense_Mutation_p.A254V|SLIT3_ENST00000404867.3_Missense_Mutation_p.A254V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	254	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCACATCCGCCACGTTGAA	0.592													18	57					0	0	0	0	A	168244337	G	A	168244337	3	1	408	1	0	0	0	0	1	0	0	0	14829	1087	38	1	3926	1	SLIT3	5	168244337	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	63385	168244337	12670923	1211	79029											
DOCK2	1794	broad.mit.edu	37	chr5	169116296	169116296	+	Frame_Shift_Del	DEL	A	A	-																															ggggcagccggggcttccctAaggagattgagatgctcaac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:169116296delA	ENST00000256935.8	+	9	882	c.802delA	c.(802-804)agfs	p.K268fs		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	268					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCTTCCCTAAGGAGATTGA	0.527													11	48	---	---	---	---					-	169116296	A	-	169116296	7	5	408	1	0	1	0	1	0	0	0	0	4723	363	13	0	836	0	DOCK2	5	169116296	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	871959	169116296	11798964	1212	79030											
ERGIC1	57222	broad.mit.edu	37	chr5	172359522	172359522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagcggtactcctaccagTacacggtggccaacaaggtg	11	6	12	12	2	0	0	0	0	0	0	1	0	1	0	3	4	6	3	3	4	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:172359522T>C	ENST00000393784.3	+	8	764	c.625T>C	c.(625-627)Tac>Cac	p.Y209H		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	209					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCCTACCAGTACACGGTGGC	0.642											OREG0017050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	42					0	0	0	0	C	172359522	T	C	172359522	3	2	408	1	0	0	0	0	1	0	0	0	5261	1638	57	5	655	5	ERGIC1	5	172359522	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3243226	172359522	8555738	1213	79031											
SFXN1	94081	broad.mit.edu	37	chr5	174940534	174940534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggagtcggcgaacgctgCgaaacaagccatcacgcaag	12	3	15	11	5	1	0	1	0	0	0	2	3	1	1	1	3	4	2	1	3	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:174940534C>T	ENST00000321442.5	+	7	919	c.665C>T	c.(664-666)gCg>gTg	p.A222V		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	222					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGAACGCTGCGAAACAAGCC	0.517													11	57					0	0	0	0	T	174940534	C	T	174940534	3	4	408	1	0	0	0	0	1	0	0	0	14281	768	27	1	687	1	SFXN1	5	174940534	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2581012	174940534	5974726	1214	79032											
HRH2	3274	broad.mit.edu	37	chr5	175110376	175110376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgtgggcttgaaccGccggctccgcaacctgacca	6	7	12	16	4	1	2	0	2	1	0	2	2	2	2	6	3	2	3	6	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:175110376G>A	ENST00000231683.2	+	1	1913	c.140G>A	c.(139-141)cGc>cAc	p.R47H	HRH2_ENST00000377291.2_Missense_Mutation_p.R47H	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	47					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGCTTGAACCGCCGGCTCCGC	0.587													65	112					0	0	0	0	A	175110376	G	A	175110376	3	1	408	1	0	0	0	0	1	0	0	0	7406	1087	38	1	142	1	HRH2	5	175110376	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	169842	175110376	5804884	1215	79033											
HRH2	3274	broad.mit.edu	37	chr5	175110408	175110408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaccaattgtttcatcGtgtccttggctatcactgac	8	14	7	12	1	2	2	2	2	0	0	4	2	3	2	3	1	0	2	3	1	2	4	rs145250724		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:175110408G>A	ENST00000231683.2	+	1	1945	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	HRH2_ENST00000377291.2_Missense_Mutation_p.V58M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	58					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TTGTTTCATCGTGTCCTTGGC	0.587													39	112					0	0	0	0	A	175110408	G	A	175110408	3	1	408	1	0	0	0	0	1	0	0	0	7406	1145	40	1	174	1	HRH2	5	175110408	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	32	175110408	5804852	1216	79034											
HK3	3101	broad.mit.edu	37	chr5	176316708	176316708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccatcatggtgcccactGtgtcgttcaccacagcaacc	9	8	8	16	1	2	0	2	0	0	0	3	0	2	0	4	1	4	2	4	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:176316708G>A	ENST00000292432.5	-	7	759	c.668C>T	c.(667-669)aCa>aTa	p.T223I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	223	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCCCACTGTGTCGTTCAC	0.592													5	97					0	0	0	0	A	176316708	G	A	176316708	3	1	408	1	0	0	0	0	1	0	0	0	7242	1377	48	4	2155	4	HK3	5	176316708	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1206300	176316708	4598552	1217	79035											
DBN1	1627	broad.mit.edu	37	chr5	176895114	176895114	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggccgcatacccagtTgatgagcacgtattttggca	8	9	11	13	3	0	2	0	2	0	0	0	2	0	2	4	2	2	5	4	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:176895114T>C	ENST00000292385.5	-	4	865	c.256A>G	c.(256-258)Aac>Gac	p.N86D	DBN1_ENST00000393565.1_Missense_Mutation_p.N84D|DBN1_ENST00000309007.5_Missense_Mutation_p.N84D	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	84	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATACCCAGTTGATGAGCACG	0.617													113	393					0	0	0	0	C	176895114	T	C	176895114	3	2	408	1	0	0	0	0	1	0	0	0	4285	1812	63	5	1747	5	DBN1	5	176895114	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	578406	176895114	4020146	1218	79036											
PDLIM7	9260	broad.mit.edu	37	chr5	176916445	176916445	+	Frame_Shift_Del	DEL	C	C	-																															gagtcttgccgttgttgctgCcccctcctggcacccctccg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:176916445delC	ENST00000355841.2	-	9	884	c.818delG	c.(817-819)gcfs	p.G273fs	PDLIM7_ENST00000359895.2_Frame_Shift_Del_p.G239fs|PDLIM7_ENST00000393551.1_Frame_Shift_Del_p.G252fs|PDLIM7_ENST00000356618.4_Frame_Shift_Del_p.G252fs	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	273					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGTTGCTGCCCCCTCCTGG	0.677													8	17	---	---	---	---					-	176916445	C	-	176916445	7	5	408	1	0	1	0	1	0	0	0	0	11755	739	26	0	575	0	PDLIM7	5	176916445	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	21331	176916445	3998815	1219	79037											
COL23A1	91522	broad.mit.edu	37	chr5	177694329	177694329	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccaaagtctcctggTgcaccctgggaacaaaagac	11	5	13	12	1	1	1	0	0	1	1	2	2	1	2	3	4	2	1	3	4	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:177694329T>C	ENST00000390654.3	-	8	858	c.501A>G	c.(499-501)gcA>gcG	p.A167A	COL23A1_ENST00000407622.1_Silent_p.A131A	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	167	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		AGTCTCCTGGTGCACCCTGGG	0.527													8	27					0	0	0	0	C	177694329	T	C	177694329	2	2	408	1	0	0	0	0	0	0	0	1	3712	1683	59	5		5	COL23A1	5	177694329	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	777884	177694329	3220931	1220	79038											
ZNF354B	117608	broad.mit.edu	37	chr5	178310089	178310089	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatcaaaacagcagagaaAcgctataaatgcagtacatg	21	6	7	7	1	1	1	1	0	0	1	1	2	1	1	0	0	5	4	0	0	9	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:178310089A>G	ENST00000322434.3	+	5	862	c.636A>G	c.(634-636)aaA>aaG	p.K212K		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCAGAGAAACGCTATAAAT	0.299													29	102					0	0	0	0	G	178310089	A	G	178310089	2	3	408	1	0	0	0	0	0	0	0	1	17960	40	2	5		5	ZNF354B	5	178310089	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	615760	178310089	2605171	1221	79039											
ZNF354B	117608	broad.mit.edu	37	chr5	178310261	178310261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatacaggagagaaacccTatatatgtaaagaatgtggg	16	9	10	6	0	1	2	1	0	0	2	1	4	1	3	1	2	2	1	1	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:178310261T>C	ENST00000322434.3	+	5	1034	c.808T>C	c.(808-810)Tat>Cat	p.Y270H		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAAACCCTATATATGTAA	0.353													35	98					0	0	0	0	C	178310261	T	C	178310261	3	2	408	1	0	0	0	0	1	0	0	0	17960	1522	53	5	822	5	ZNF354B	5	178310261	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	172	178310261	2604999	1222	79040											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044053	179044053	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctagcatttggctaccGtaagcaccaccgcttgctcc	7	10	7	17	2	0	0	0	0	0	0	2	0	2	0	6	1	4	6	6	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1117_splice	c.e9+1	p.Y372_splice	HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373													4	128					0	0	0	0	A	179044053	G	A	179044053	5	1	408	1	0	0	0	0	0	0	1	0	7316	1159	40	1	249	1	HNRNPH1	5	179044053	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	733792	179044053	1871207	1223	79041											
CANX	821	broad.mit.edu	37	chr5	179132782	179132782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgattgatattgaggatGaccttgacgatgtcattgaa	12	14	11	4	1	1	6	1	6	0	0	1	8	1	7	1	1	0	0	1	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:179132782G>A	ENST00000247461.4	+	2	300	c.100G>A	c.(100-102)Gac>Aac	p.D34N	CANX_ENST00000504734.1_Missense_Mutation_p.D34N|CANX_ENST00000512607.2_5'UTR|CANX_ENST00000452673.2_Missense_Mutation_p.D34N|CANX_ENST00000415618.2_Missense_Mutation_p.D69N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	34					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	tattgaggatgaccttgacga	0.428													77	245					0	0	0	0	A	179132782	G	A	179132782	3	1	408	1	0	0	0	0	1	0	0	0	2643	1290	45	2	102	2	CANX	5	179132782	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	88729	179132782	1782478	1224	79042											
TBC1D9B	23061	broad.mit.edu	37	chr5	179306696	179306696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcaggccctgggatgcggTtggcgcctcctgcgcacaga	6	6	15	14	3	0	1	0	0	0	1	1	2	1	2	3	4	3	3	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:179306696T>C	ENST00000356834.3	-	8	1385	c.1348A>G	c.(1348-1350)Acc>Gcc	p.T450A	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.T450A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	450						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGATGCGGTTGGCGCCTCC	0.667													34	106					0	0	0	0	C	179306696	T	C	179306696	3	2	408	1	0	0	0	0	1	0	0	0	15722	1725	60	5	2464	5	TBC1D9B	5	179306696	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	173914	179306696	1608564	1225	79043											
FLT4	2324	broad.mit.edu	37	chr5	180053023	180053023	+	Frame_Shift_Del	DEL	G	G	-																															ggcctccttctcatgtatctGggggggcactgtgggcacac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:180053023delG	ENST00000261937.6	-	10	1345	c.1267delC	c.(1267-1269)agfs	p.Q423fs	FLT4_ENST00000393347.3_Frame_Shift_Del_p.Q423fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Del_p.Q423fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	423	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.Q423fs*4(2)|p.Q233fs*4(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCATGTATCTGGGGGGGCACT	0.672													45	118	---	---	---	---					-	180053023	G	-	180053023	7	5	408	1	0	1	0	1	0	0	0	0	5989	1357	47	0	2916	0	FLT4	5	180053023	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	746327	180053023	862237	1226	79044											
OR2Y1	134083	broad.mit.edu	37	chr5	180166537	180166537	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctcacagaagaagtgAttcagtcgatggccacagag	13	7	12	9	1	2	4	2	1	1	3	4	5	2	4	1	2	0	1	1	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:180166537A>G	ENST00000307832.2	-	1	562	c.522T>C	c.(520-522)aaT>aaC	p.N174N		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAGAAGTGATTCAGTCGAT	0.552													18	73					0	0	0	0	G	180166537	A	G	180166537	2	3	408	1	0	0	0	0	0	0	0	1	11106	330	12	5		5	OR2Y1	5	180166537	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	113514	180166537	748723	1227	79045											
MGAT1	4245	broad.mit.edu	37	chr5	180219557	180219557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccgcagtcctggctaaCgatgatggggaagagctcag	9	7	15	10	2	1	2	1	1	0	1	2	4	2	3	2	3	3	3	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:180219557C>T	ENST00000446023.2	-	3	1165	c.415G>A	c.(415-417)Gtt>Att	p.V139I	MGAT1_ENST00000307826.4_Missense_Mutation_p.V139I|MGAT1_ENST00000393340.3_Missense_Mutation_p.V139I|MGAT1_ENST00000333055.3_Missense_Mutation_p.V139I|MGAT1_ENST00000427865.2_Missense_Mutation_p.V139I	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	139					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTGGCTAACGATGATGGGG	0.652													16	75					0	0	0	0	T	180219557	C	T	180219557	3	4	408	1	0	0	0	0	1	0	0	0	9611	536	19	1	926	1	MGAT1	5	180219557	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	53020	180219557	695703	1228	79046											
MGAT1	4245	broad.mit.edu	37	chr5	180219668	180219668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggaatcaccgccggcgCgggggtcacaggcacacgcg	8	3	17	13	6	2	0	2	0	0	0	2	2	2	1	2	5	0	1	2	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:180219668C>T	ENST00000446023.2	-	3	1054	c.304G>A	c.(304-306)Gcg>Acg	p.A102T	MGAT1_ENST00000307826.4_Missense_Mutation_p.A102T|MGAT1_ENST00000393340.3_Missense_Mutation_p.A102T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A102T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A102T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	102					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCGCCGGCGCGGGGGTCACA	0.706													4	20					0	0	0	0	T	180219668	C	T	180219668	3	4	408	1	0	0	0	0	1	0	0	0	9611	768	27	1	1037	1	MGAT1	5	180219668	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	111	180219668	695592	1229	79047											
FOXQ1	94234	broad.mit.edu	37	chr6	1313290	1313290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaagccatatacgcggcgGcccaagcccccctactcgta	10	5	9	17	4	0	0	0	0	0	0	1	0	0	0	5	2	5	2	5	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:1313290G>A	ENST00000296839.2	+	1	616	c.351G>A	c.(349-351)cgG>cgA	p.R117R		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	117					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATACGCGGCGGCCCAAGCCCC	0.746													17	34					0	0	0	0	A	1313290	G	A	1313290	2	1	408	1	0	0	0	0	0	0	0	1	6077	1190	42	4		4	FOXQ1	6	1313290	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08		1313290	169801777	1230	79048											
FOXQ1	94234	broad.mit.edu	37	chr6	1313539	1313539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatgctcaaccccaacagCgagtacaccttcgccgacgg	10	6	10	15	4	1	0	1	0	0	0	2	3	1	1	4	2	5	2	4	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:1313539C>T	ENST00000296839.2	+	1	865	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	200					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ACCCCAACAGCGAGTACACCT	0.716													19	55					0	0	0	0	T	1313539	C	T	1313539	2	4	408	1	0	0	0	0	0	0	0	1	6077	767	27	1		1	FOXQ1	6	1313539	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	249	1313539	169801528	1231	79049											
SERPINB9	5272	broad.mit.edu	37	chr6	2890411	2890411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccctttatggcgatgagaAcctgccacagaacagaatgc	13	7	9	12	1	0	3	0	1	0	3	0	5	0	3	3	1	4	0	3	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:2890411A>G	ENST00000380698.4	-	7	1206	c.1117T>C	c.(1117-1119)Ttc>Ctc	p.F373L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	373					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GGCGATGAGAACCTGCCACAG	0.537													10	49					0	0	0	0	G	2890411	A	G	2890411	3	3	408	1	0	0	0	0	1	0	0	0	14195	43	2	5	17	5	SERPINB9	6	2890411	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1576872	2890411	168224656	1232	79050											
TUBB2A	7280	broad.mit.edu	37	chr6	3154891	3154891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagagggtggcgttgtaggGctccaccaccgtgtctgaca	8	8	15	10	2	1	2	0	1	1	1	2	3	2	2	3	3	0	3	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:3154891G>A	ENST00000333628.3	-	4	606	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	182					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCGTTGTAGGGCTCCACCACC	0.557													21	78					0	0	0	0	A	3154891	G	A	3154891	3	1	408	1	0	0	0	0	1	0	0	0	16850	1203	42	4	797	4	TUBB2A	6	3154891	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	264480	3154891	167960176	1233	79051											
CDYL	9425	broad.mit.edu	37	chr6	4937972	4937972	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatggcagaagctatcagGtatgtaaaaatgatgttttt	16	13	9	3	0	1	2	1	1	0	1	1	2	1	2	0	2	1	5	0	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:4937972G>A	ENST00000328908.5	+	6	1414		c.e6+1		CDYL_ENST00000343762.5_Splice_Site|CDYL_ENST00000449732.2_Splice_Site|CDYL_ENST00000472453.1_Splice_Site|CDYL_ENST00000397588.3_Splice_Site			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AAGCTATCAGGTATGTAAAAA	0.373													18	47					0	0	0	0	A	4937972	G	A	4937972	5	1	408	1	0	0	0	0	0	0	1	0	3214	1275	44	4	1136	4	CDYL	6	4937972	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1783081	4937972	166177095	1234	79052											
LYRM4	57128	broad.mit.edu	37	chr6	5109669	5109669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttgctaggtcctgggCatgtctcgattctcaatgat	6	13	11	11	2	2	1	1	1	2	0	5	2	3	1	2	3	1	3	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:5109669C>T	ENST00000330636.4	-	3	469	c.264G>A	c.(262-264)atG>atA	p.M88I	LYRM4_ENST00000468929.1_3'UTR|LYRM4_ENST00000464010.1_3'UTR	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	88						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				AGGTCCTGGGCATGTCTCGAT	0.552													7	198					0	0	0	0	T	5109669	C	T	5109669	3	4	408	1	0	0	0	0	1	0	0	0	9186	710	25	4	15	4	LYRM4	6	5109669	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	171697	5109669	166005398	1235	79053											
CAGE1	285782	broad.mit.edu	37	chr6	7373421	7373421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgctgtttaagttttgcaTtctcattttttacttcgttg	5	22	6	8	1	1	0	1	0	1	0	3	0	1	0	1	0	3	5	1	0	2	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:7373421T>C	ENST00000502583.1	-	5	2195	c.1631A>G	c.(1630-1632)aAt>aGt	p.N544S	CAGE1_ENST00000512086.1_Missense_Mutation_p.N544S|CAGE1_ENST00000379918.4_Missense_Mutation_p.N544S|CAGE1_ENST00000296742.7_Missense_Mutation_p.N408S|CAGE1_ENST00000338150.4_Missense_Mutation_p.N544S	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	544										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AAGTTTTGCATTCTCATTTTT	0.333													11	33					0	0	0	0	C	7373421	T	C	7373421	3	2	408	1	0	0	0	0	1	0	0	0	2597	1493	52	5	1034	5	CAGE1	6	7373421	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2263752	7373421	163741646	1236	79054											
DSP	1832	broad.mit.edu	37	chr6	7585873	7585873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgccataaatcgctccaTggtagaagatatcactgggc	12	9	11	9	1	1	2	1	0	0	2	3	3	2	3	2	3	1	2	2	3	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:7585873T>C	ENST00000379802.3	+	24	8719	c.8378T>C	c.(8377-8379)aTg>aCg	p.M2793T	DSP_ENST00000418664.2_Missense_Mutation_p.M2194T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2793	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATCGCTCCATGGTAGAAGAT	0.542													96	346					0	0	0	0	C	7585873	T	C	7585873	3	2	408	1	0	0	0	0	1	0	0	0	4817	1464	51	5	8472	5	DSP	6	7585873	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	212452	7585873	163529194	1237	79055											
DSP	1832	broad.mit.edu	37	chr6	7586071	7586071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagggaattcttcctactCttattcctactcatttagca	10	15	4	12	0	3	0	1	0	2	0	5	1	5	1	2	1	3	1	2	1	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:7586071C>G	ENST00000379802.3	+	24	8917	c.8576C>G	c.(8575-8577)tCt>tGt	p.S2859C	DSP_ENST00000418664.2_Missense_Mutation_p.S2260C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2859	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCCTACTCTTATTCCTAC	0.507													41	128					0	0	0	0	G	7586071	C	G	7586071	3	3	408	1	0	0	0	0	1	0	0	0	4817	913	32	2	8670	2	DSP	6	7586071	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	198	7586071	163528996	1238	79056											
GCNT2	2651	broad.mit.edu	37	chr6	10529936	10529936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgatttactttggcacGgcctacgtggctctcacaag	8	12	11	10	2	1	1	1	1	1	0	2	1	1	1	1	4	2	2	1	4	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:10529936G>A	ENST00000379597.3	+	1	1348	c.792G>A	c.(790-792)acG>acA	p.T264T	GCNT2_ENST00000495262.1_Silent_p.T264T|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	264						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ACTTTGGCACGGCCTACGTGG	0.473													4	189					0	0	0	0	A	10529936	G	A	10529936	2	1	408	1	0	0	0	0	0	0	0	1	6350	1103	39	1		1	GCNT2	6	10529936	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2943865	10529936	160585131	1239	79057											
TBC1D7	51256	broad.mit.edu	37	chr6	13307955	13307955	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccatcttccagattcAagtattgttcaaacgctttt	9	16	6	10	1	4	1	2	0	2	1	5	1	5	1	2	0	2	3	2	0	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:13307955A>G	ENST00000607658.1	-	5	611	c.461T>C	c.(460-462)tTg>tCg	p.L154S	TBC1D7_ENST00000356436.4_Missense_Mutation_p.L181S|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379300.3_Missense_Mutation_p.L181S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.L154S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.L135S			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	181	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TTCCAGATTCAAGTATTGTTC	0.408													12	61					0	0	0	0	G	13307955	A	G	13307955	3	3	408	1	0	0	0	0	1	0	0	0	15718	131	5	5	351	5	TBC1D7	6	13307955	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2778019	13307955	157807112	1240	79058											
JARID2	3720	broad.mit.edu	37	chr6	15496799	15496799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagactggaagaggcacAccaggcggagaagccgcagt	13	2	17	9	2	0	3	0	0	0	3	0	7	0	4	2	5	1	2	2	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:15496799A>G	ENST00000341776.2	+	7	1587	c.1343A>G	c.(1342-1344)cAc>cGc	p.H448R	JARID2_ENST00000397311.3_Missense_Mutation_p.H276R|JARID2_ENST00000541660.1_Missense_Mutation_p.H410R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	448					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAAGAGGCACACCAGGCGGAG	0.687													11	27					0	0	0	0	G	15496799	A	G	15496799	3	3	408	1	0	0	0	0	1	0	0	0	7998	159	6	5	1369	5	JARID2	6	15496799	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2188844	15496799	155618268	1241	79059											
JARID2	3720	broad.mit.edu	37	chr6	15497123	15497123	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgggcggccatggacgAgatccccgtcctcaggccct	5	6	15	15	4	1	1	1	0	0	1	3	3	3	2	5	5	0	0	5	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:15497123A>T	ENST00000341776.2	+	7	1911	c.1667A>T	c.(1666-1668)gAg>gTg	p.E556V	JARID2_ENST00000397311.3_Missense_Mutation_p.E384V|JARID2_ENST00000541660.1_Missense_Mutation_p.E518V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	556					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCATGGACGAGATCCCCGTC	0.652													10	25					0	0	0	0	T	15497123	A	T	15497123	3	4	408	1	0	0	0	0	1	0	0	0	7998	304	11	5	1693	5	JARID2	6	15497123	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	324	15497123	155617944	1242	79060											
ATXN1	6310	broad.mit.edu	37	chr6	16306681	16306681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgcggctctctggcGccgaccacctcctcttcctc	3	11	8	19	3	2	0	0	0	2	0	6	1	4	0	6	2	1	2	6	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:16306681G>A	ENST00000244769.4	-	9	3263	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	ATXN1_ENST00000436367.1_Missense_Mutation_p.A776V	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	776	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCTCTCTGGCGCCGACCACCT	0.522													31	75					0	0	0	0	A	16306681	G	A	16306681	3	1	408	1	0	0	0	0	1	0	0	0	1213	1087	38	1	124	1	ATXN1	6	16306681	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	809558	16306681	154808386	1243	79061											
ATXN1	6310	broad.mit.edu	37	chr6	16326726	16326726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgatcttcaggtcgtTgcttatctctgcactctgga	6	14	11	10	2	4	0	1	0	3	0	7	3	4	2	0	3	2	3	0	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:16326726T>C	ENST00000244769.4	-	8	2752	c.1816A>G	c.(1816-1818)Aac>Gac	p.N606D	ATXN1_ENST00000436367.1_Missense_Mutation_p.N606D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	606	AXH.|Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGGTCGTTGCTTATCTCT	0.532													7	113					0	0	0	0	C	16326726	T	C	16326726	3	2	408	1	0	0	0	0	1	0	0	0	1213	1812	63	5	639	5	ATXN1	6	16326726	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	20045	16326726	154788341	1244	79062											
ATXN1	6310	broad.mit.edu	37	chr6	16327465	16327465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcgggtggaccaccacgtgCctggactcgtacgggtgagg	6	7	16	12	4	0	1	0	1	0	0	2	3	0	3	3	5	2	1	3	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:16327465C>T	ENST00000244769.4	-	8	2013	c.1077G>A	c.(1075-1077)agG>agA	p.R359R	ATXN1_ENST00000436367.1_Silent_p.R359R	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	359					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCACCACGTGCCTGGACTCGT	0.677													48	170					0	0	0	0	T	16327465	C	T	16327465	2	4	408	1	0	0	0	0	0	0	0	1	1213	738	26	4		4	ATXN1	6	16327465	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	739	16327465	154787602	1245	79063											
NUP153	9972	broad.mit.edu	37	chr6	17629211	17629211	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttggtggcaggcatttcTtcttttttagcttctgatgt	4	20	9	8	0	3	1	0	1	3	0	3	1	3	1	1	3	1	3	1	3	1	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:17629211T>C	ENST00000262077.2	-	18	3218	c.3219A>G	c.(3217-3219)gaA>gaG	p.E1073E	NUP153_ENST00000537253.1_Silent_p.E1104E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1073					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAGGCATTTCTTCTTTTTTAG	0.468													30	88					0	0	0	0	C	17629211	T	C	17629211	2	2	408	1	0	0	0	0	0	0	0	1	10826	1606	56	5		5	NUP153	6	17629211	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1301746	17629211	153485856	1246	79064											
KIF13A	63971	broad.mit.edu	37	chr6	17809131	17809131	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaccagctgctctcgcagTtttgccaggctttgtcggaa	7	13	10	11	2	1	0	0	0	1	0	3	1	1	1	2	2	4	5	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:17809131T>C	ENST00000378814.5	-	18	2030	c.2031A>G	c.(2029-2031)aaA>aaG	p.K677K	KIF13A_ENST00000378843.2_Silent_p.K677K|KIF13A_ENST00000259711.6_Silent_p.K677K|KIF13A_ENST00000378826.2_Silent_p.K677K|KIF13A_ENST00000378816.5_Silent_p.K677K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	677					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTCTCGCAGTTTTGCCAGGC	0.458													3	26					0	0	0	0	C	17809131	T	C	17809131	2	2	408	1	0	0	0	0	0	0	0	1	8325	1722	60	5		5	KIF13A	6	17809131	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	179920	17809131	153305936	1247	79065											
DEK	7913	broad.mit.edu	37	chr6	18264188	18264188	+	Frame_Shift_Del	DEL	C	C	-																															gggctgggtgggggttccctCcccctccgcagcaggggccg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:18264188delC	ENST00000397239.3	-	2	478	c.31delG	c.(31-33)agfs	p.E11fs	DEK_ENST00000244776.7_Frame_Shift_Del_p.E11fs	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	11					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GGGGTTCCCTCCCCCTCCGCA	0.677			T	NUP214	AML								13	40	---	---	---	---					-	18264188	C	-	18264188	7	5	408	1	0	1	0	1	0	0	0	0	4461	864	30	0	1136	0	DEK	6	18264188	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	455057	18264188	152850879	1248	79066											
FAM65B	9750	broad.mit.edu	37	chr6	24843275	24843275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagagcagcctgtctgtggCcattggcacctctgcagatg	8	9	13	11	0	2	2	0	0	2	2	2	3	2	2	3	2	3	3	3	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:24843275C>T	ENST00000259698.4	-	14	1910	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T	FAM65B_ENST00000538035.1_Missense_Mutation_p.A558T|FAM65B_ENST00000378023.4_Missense_Mutation_p.A529T|FAM65B_ENST00000510784.2_Missense_Mutation_p.A563T|FAM65B_ENST00000540914.1_Missense_Mutation_p.A529T|FAM65B_ENST00000473070.1_5'UTR	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	579					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTGTCTGTGGCCATTGGCACC	0.512													10	287					0	0	0	0	T	24843275	C	T	24843275	3	4	408	1	0	0	0	0	1	0	0	0	5646	739	26	4	1521	4	FAM65B	6	24843275	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	6579087	24843275	146271792	1249	79067											
HIST1H4F	8361	broad.mit.edu	37	chr6	26240672	26240672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtctggtagaggcaaaGgtggtaaaggtttaggaaag	13	10	15	3	0	2	1	1	0	1	1	2	2	2	2	0	6	0	4	0	6	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:26240672G>T	ENST00000377745.2	+	1	112	c.19G>T	c.(19-21)Ggt>Tgt	p.G7C		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	7					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TAGAGGCAAAGGTGGTAAAGG	0.498													5	52					1	1	1	0	T	26240672	G	T	26240672	3	4	408	1	0	0	0	0	1	0	0	0	7220	1000	35	4	21	4	HIST1H4F	6	26240672	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1397397	26240672	144874395	1250	79068											
HIST1H4F	8361	broad.mit.edu	37	chr6	26240866	26240866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtgatacgggacgccgtAacctacacggagcacgccaa	13	5	11	12	5	0	1	0	1	0	0	0	3	0	3	3	2	4	2	3	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:26240866A>G	ENST00000377745.2	+	1	306	c.213A>G	c.(211-213)gtA>gtG	p.V71V		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	71				V -> A (in Ref. 14; AAH67496).	CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGGACGCCGTAACCTACACGG	0.582													10	63					0	0	0	0	G	26240866	A	G	26240866	2	3	408	1	0	0	0	0	0	0	0	1	7220	349	13	5		5	HIST1H4F	6	26240866	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	194	26240866	144874201	1251	79069											
BTN1A1	696	broad.mit.edu	37	chr6	26507049	26507049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagaggaggaatgaatTcagctctaaaggtaaaccat	17	7	11	6	0	2	3	1	1	1	2	2	6	2	5	1	3	2	2	1	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:26507049T>C	ENST00000244513.6	+	4	914	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	283						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGGAATGAATTCAGCTCTAAA	0.448													10	259					0	0	0	0	C	26507049	T	C	26507049	3	2	408	1	0	0	0	0	1	0	0	0	1568	1783	62	5	862	5	BTN1A1	6	26507049	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	266183	26507049	144608018	1252	79070											
PRSS16	10279	broad.mit.edu	37	chr6	27216987	27216987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggaaatggcccagctccGcttcttgtccagccgccttg	5	10	10	16	2	1	0	0	0	1	0	3	1	3	1	6	2	2	2	6	2	1	3	rs145240806		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:27216987G>A	ENST00000230582.3	+	4	461	c.446G>A	c.(445-447)cGc>cAc	p.R149H	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	149					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCAGCTCCGCTTCTTGTCC	0.562													30	117					0	0	0	0	A	27216987	G	A	27216987	3	1	408	1	0	0	0	0	1	0	0	0	12695	1087	38	1	460	1	PRSS16	6	27216987	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	709938	27216987	143898080	1253	79071											
PRSS16	10279	broad.mit.edu	37	chr6	27222538	27222538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgccctcccagctagaccTatgtgagcaggtgtttgggc	7	10	12	12	0	0	2	0	1	0	1	1	2	1	2	3	2	3	3	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:27222538T>C	ENST00000230582.3	+	10	1232	c.1217T>C	c.(1216-1218)cTa>cCa	p.L406P	PRSS16_ENST00000421826.2_Missense_Mutation_p.L149P|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	406					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCTAGACCTATGTGAGCAG	0.557													6	163					0	0	0	0	C	27222538	T	C	27222538	3	2	408	1	0	0	0	0	1	0	0	0	12695	1522	53	5	1255	5	PRSS16	6	27222538	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5551	27222538	143892529	1254	79072											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834914	27834914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggcccccgcgggcttctTagctttagcggcgcctgcct	2	10	13	16	5	1	0	0	0	1	0	1	0	1	0	4	3	3	2	4	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:27834914T>C	ENST00000331442.3	-	1	445	c.394A>G	c.(394-396)Aag>Gag	p.K132E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	132					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCGGGCTTCTTAGCTTTAGCG	0.612													68	202					0	0	0	0	C	27834914	T	C	27834914	3	2	408	1	0	0	0	0	1	0	0	0	7173	1763	61	5	290	5	HIST1H1B	6	27834914	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	612376	27834914	143280153	1255	79073											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333606	28333606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagctcagaccttatcaaGcatcagagaacccacactgg	14	7	7	13	0	3	2	3	0	0	2	3	3	3	2	2	1	3	2	2	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:28333606G>T	ENST00000377255.3	+	7	1458	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K387N|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K239N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	387					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						ACCTTATCAAGCATCAGAGAA	0.502													4	113					0.150653	0.150988	1	0	T	28333606	G	T	28333606	3	4	408	1	0	0	0	0	1	0	0	0	17783	962	34	4	1179	4	ZKSCAN3	6	28333606	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	498692	28333606	142781461	1256	79074											
TRIM27	5987	broad.mit.edu	37	chr6	28887838	28887838	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcttctagctgagcgAtcaggctgctgaggtgggag	6	11	15	9	1	3	2	1	2	2	0	4	4	3	3	0	3	3	4	0	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:28887838A>T	ENST00000377199.3	-	3	1054	c.698T>A	c.(697-699)aTc>aAc	p.I233N	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.I233N	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	233					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TAGCTGAGCGATCAGGCTGCT	0.567			T	RET	papillary thyroid								44	128					0	0	0	0	T	28887838	A	T	28887838	3	4	408	1	0	0	0	0	1	0	0	0	16596	333	12	5	867	5	TRIM27	6	28887838	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	554232	28887838	142227229	1257	79075											
OR12D3	81797	broad.mit.edu	37	chr6	29342617	29342617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagagcgtaaaagaagcTgatgagccaggccgcagctg	13	5	13	10	2	1	4	1	2	0	2	1	4	1	4	2	1	4	4	2	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29342617T>C	ENST00000396806.3	-	1	451	c.448A>G	c.(448-450)Agc>Ggc	p.S150G	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TAAAAGAAGCTGATGAGCCAG	0.493													21	64					0	0	0	0	C	29342617	T	C	29342617	3	2	408	1	0	0	0	0	1	0	0	0	11003	1580	55	5	506	5	OR12D3	6	29342617	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	454779	29342617	141772450	1258	79076											
OR12D3	81797	broad.mit.edu	37	chr6	29342679	29342679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatgatgacagtgtagCgaagaggattgcagatggca	12	9	15	5	1	1	4	1	2	0	2	1	6	1	5	0	3	2	4	0	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29342679C>T	ENST00000396806.3	-	1	389	c.386G>A	c.(385-387)cGc>cAc	p.R129H	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GACAGTGTAGCGAAGAGGATT	0.493													14	61					0	0	0	0	T	29342679	C	T	29342679	3	4	408	1	0	0	0	0	1	0	0	0	11003	768	27	1	568	1	OR12D3	6	29342679	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	62	29342679	141772388	1259	79077											
OR2H2	7932	broad.mit.edu	37	chr6	29556088	29556088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcttttgatcgctacgtgGctgtctgccagcccctccac	4	12	10	15	2	1	1	0	1	1	0	3	1	2	1	4	2	3	3	4	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29556088G>A	ENST00000383640.2	+	1	406	c.367G>A	c.(367-369)Gct>Act	p.A123T	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	123					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCGCTACGTGGCTGTCTGCCA	0.577													33	105					0	0	0	0	A	29556088	G	A	29556088	3	1	408	1	0	0	0	0	1	0	0	0	11073	1203	42	4	369	4	OR2H2	6	29556088	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	213409	29556088	141558979	1260	79078											
HLA-F	3134	broad.mit.edu	37	chr6	29693278	29693278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgttgctggccttgttgTccttggagctgtggtcactg	3	15	13	10	1	1	0	1	0	0	0	3	1	2	1	2	3	2	4	2	3	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29693278T>C	ENST00000440587.2	+	5	946	c.587T>C	c.(586-588)gTc>gCc	p.V196A	HLA-F_ENST00000376861.1_Missense_Mutation_p.V314A|HLA-F_ENST00000475996.1_3'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.V222A|HLA-F_ENST00000334668.4_Missense_Mutation_p.V314A|HLA-F_ENST00000259951.7_Missense_Mutation_p.V314A			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	314	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGCCTTGTTGTCCTTGGAGCT	0.587													56	179					0	0	0	0	C	29693278	T	C	29693278	3	2	408	1	0	0	0	0	1	0	0	0	7261	1667	58	5	959	5	HLA-F	6	29693278	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	137190	29693278	141421789	1261	79079											
HLA-A	3105	broad.mit.edu	37	chr6	29912358	29912358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgatcactggagctgTggtcgctgccgtgatgtgga	6	11	16	8	2	1	2	1	2	0	0	2	4	1	4	1	3	3	3	1	3	0	0	rs45584337		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29912358T>C	ENST00000396634.1	+	7	1318	c.977T>C	c.(976-978)gTg>gCg	p.V326A	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.V326A|HLA-A_ENST00000376809.5_Missense_Mutation_p.V326A			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	326					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACTGGAGCTGTGGTCGCTGCC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			24	124					0	0	0	0	C	29912358	T	C	29912358	3	2	408	1	0	0	0	0	1	0	0	0	7245	1696	59	5	995	5	HLA-A	6	29912358	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	219080	29912358	141202709	1262	79080											
TRIM31	11074	broad.mit.edu	37	chr6	30076801	30076801	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttggggtggcccatcatAcctgcacaagacgactttga	10	10	10	11	1	1	2	1	1	0	1	1	3	1	2	2	3	2	1	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30076801A>G	ENST00000376734.3	-	5	893		c.e5+1		TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Splice_Site|TRIM31_ENST00000485864.1_Splice_Site	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31							mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GGCCCATCATACCTGCACAAG	0.468													5	134					0	0	0	0	G	30076801	A	G	30076801	5	3	408	1	0	0	0	0	0	0	1	0	16600	405	14	5	528	5	TRIM31	6	30076801	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	164443	30076801	141038266	1263	79081											
TRIM39	56658	broad.mit.edu	37	chr6	30308120	30308120	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcataaggctctccttggatTagtaaaagaaatcaacaggt	15	11	8	7	0	3	1	2	0	1	1	4	2	3	2	1	3	1	2	1	3	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30308120T>C	ENST00000376656.4	+	7	1187	c.875T>C	c.(874-876)tTa>tCa	p.L292S	TRIM39_ENST00000396547.1_Missense_Mutation_p.L292S|TRIM39_ENST00000396548.1_Intron|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396551.3_Intron|TRIM39_ENST00000376659.5_Intron|TRIM39_ENST00000540416.1_Intron	NM_021253.3	NP_067076.2			tripartite motif containing 39											ovary(3)	3						CTCCTTGGATTAGTAAAAGAA	0.408													12	55					0	0	0	0	C	30308120	T	C	30308120	3	2	408	1	0	0	0	0	1	0	0	0	16608	1764	61	5	893	5	TRIM39	6	30308120	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	231319	30308120	140806947	1264	79082											
PPP1R10	5514	broad.mit.edu	37	chr6	30569889	30569889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagggccttcatggggaCgatgtccaccacttccaccc	7	8	10	16	1	1	0	1	0	0	0	4	2	4	1	6	3	0	0	6	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30569889C>T	ENST00000376511.2	-	19	3089	c.2537G>A	c.(2536-2538)cGt>cAt	p.R846H		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	846	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCATGGGGACGATGTCCACC	0.672													40	123					0	0	0	0	T	30569889	C	T	30569889	3	4	408	1	0	0	0	0	1	0	0	0	12428	536	19	1	293	1	PPP1R10	6	30569889	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	261769	30569889	140545178	1265	79083											
PPP1R10	5514	broad.mit.edu	37	chr6	30572457	30572459	+	In_Frame_Del	DEL	GAA	GAA	-																															aaggtggtgctggttctgggGaagaaggtttggctgtgctt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30572457_30572459delGAA	ENST00000376511.2	-	12	1560_1562	c.1008_1010delTTC	c.(1006-1011)tcc>tc	p.SS336del		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	336	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGGTTCTGGGGAAGAAGGTTTGG	0.522													93	449	---	---	---	---					-	30572459	GAA	-	30572457	7	5	408	1	0	1	0	1	0	0	0	0	12428	1174	41	0	1848	0	PPP1R10	6	30572457	In_Frame_Del	DEL	GAA	TCGA-F7-A624-01A-22D-A30E-08	2568	30572457	140542610	1266	79084											
DHX16	8449	broad.mit.edu	37	chr6	30624426	30624426	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggtcctctggatctcAggcactgtggtttcctcaag	7	12	11	11	0	3	0	2	0	2	0	6	1	5	1	2	4	1	3	2	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30624426A>G	ENST00000376442.3	-	14	2454	c.2259T>C	c.(2257-2259)ccT>ccC	p.P753P	DHX16_ENST00000376437.5_Silent_p.P272P	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	753	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TCTGGATCTCAGGCACTGTGG	0.597													20	128					0	0	0	0	G	30624426	A	G	30624426	2	3	408	1	0	0	0	0	0	0	0	1	4539	175	7	5		5	DHX16	6	30624426	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	51969	30624426	140490641	1267	79085											
DHX16	8449	broad.mit.edu	37	chr6	30633512	30633512	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccgcagctcagggaccTgagttgggaaaggacagtcg	9	8	14	10	2	2	1	1	1	1	0	4	4	3	4	2	3	1	3	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30633512T>A	ENST00000376442.3	-	5	862		c.e5-2			NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16						mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CTCAGGGACCTGAGTTGGGAA	0.562													22	67					0	0	0	0	A	30633512	T	A	30633512	5	1	408	1	0	0	0	0	0	0	1	0	4539	1594	55	5	2524	5	DHX16	6	30633512	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9086	30633512	140481555	1268	79086											
DHX16	8449	broad.mit.edu	37	chr6	30639032	30639032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcccgagctggcttttctAccactgcctttcgtggtacc	4	13	9	15	2	1	0	0	0	1	0	2	1	1	0	4	2	5	3	4	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30639032A>G	ENST00000376442.3	-	2	422	c.227T>C	c.(226-228)gTa>gCa	p.V76A		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	76					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TGGCTTTTCTACCACTGCCTT	0.537													108	306					0	0	0	0	G	30639032	A	G	30639032	3	3	408	1	0	0	0	0	1	0	0	0	4539	391	14	5	2974	5	DHX16	6	30639032	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5520	30639032	140476035	1269	79087											
MDC1	9656	broad.mit.edu	37	chr6	30675572	30675572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaactcggctggatcGcactctctgtttgctactgg	5	15	9	12	2	3	0	0	0	3	0	6	1	3	1	0	3	3	4	0	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30675572G>A	ENST00000376406.3	-	8	3431	c.2784C>T	c.(2782-2784)tgC>tgT	p.C928C	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	928				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CGGCTGGATCGCACTCTCTGT	0.507								Other conserved DNA damage response genes					36	121					0	0	0	0	A	30675572	G	A	30675572	2	1	408	1	0	0	0	0	0	0	0	1	9472	1079	38	1		1	MDC1	6	30675572	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	36540	30675572	140439495	1270	79088											
POU5F1	5460	broad.mit.edu	37	chr6	31132543	31132543	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggacactggtcccccTgagaaaggagacccagcagc	13	3	13	12	0	0	2	0	1	0	2	1	6	1	4	3	4	2	1	3	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31132543T>C	ENST00000513407.1	-	3	1860	c.330A>G	c.(328-330)tcA>tcG	p.S110S	POU5F1_ENST00000606567.1_Silent_p.S136S|POU5F1_ENST00000471529.2_Silent_p.S110S|POU5F1_ENST00000259915.8_Silent_p.S306S|POU5F1_ENST00000512818.1_Silent_p.S110S|POU5F1_ENST00000441888.3_Silent_p.S110S			Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	306					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CTGGTCCCCCTGAGAAAGGAG	0.587			T	EWSR1	sarcoma								4	13					0	0	0	0	C	31132543	T	C	31132543	2	2	408	1	0	0	0	0	0	0	0	1	12352	1567	55	5		5	POU5F1	6	31132543	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	456971	31132543	139982524	1271	79089											
MICA	100507436	broad.mit.edu	37	chr6	31379009	31379009	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagctcagaccttggcCatgaacgtcaggaatttctt	10	11	9	11	1	3	3	2	1	1	2	4	4	4	4	3	2	2	1	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31379009C>T	ENST00000449934.2	+	3	540	c.486C>T	c.(484-486)gcC>gcT	p.A162A	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	162					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				AGACCTTGGCCATGAACGTCA	0.522													5	24					0	0	0	0	T	31379009	C	T	31379009	2	4	408	1	0	0	0	0	0	0	0	1	9637	581	21	4		4	MICA	6	31379009	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	246466	31379009	139736058	1272	79090											
AIF1	199	broad.mit.edu	37	chr6	31584617	31584617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgtatgaggaaaaagcGagagaaaaggaaaagccaac	20	4	12	5	1	0	3	0	2	0	1	0	7	0	5	1	2	3	1	1	2	8	1	rs148972430		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31584617G>A	ENST00000376059.3	+	6	530	c.384G>A	c.(382-384)gcG>gcA	p.A128A	AIF1_ENST00000376049.4_Silent_p.A74A	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	128					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						AGGAAAAAGCGAGAGAAAAGG	0.488													15	69					0	0	0	0	A	31584617	G	A	31584617	2	1	408	1	0	0	0	0	0	0	0	1	424	1045	37	1		1	AIF1	6	31584617	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	205608	31584617	139530450	1273	79091											
CLIC1	1192	broad.mit.edu	37	chr6	31700051	31700051	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggtgagctcgttgccAtccaaaaacttcctctgaga	10	9	10	12	1	1	2	0	2	1	1	4	3	3	2	4	1	3	2	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31700051A>G	ENST00000375780.2	-	6	1079	c.507T>C	c.(505-507)gaT>gaC	p.D169D	CLIC1_ENST00000375784.3_Silent_p.D169D|CLIC1_ENST00000375779.2_Silent_p.D169D|CLIC1_ENST00000395892.1_Silent_p.D169D			O00299	CLIC1_HUMAN	chloride intracellular channel 1	169	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	p.D169E(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCTCGTTGCCATCCAAAAACT	0.498													31	77					0	0	0	0	G	31700051	A	G	31700051	2	3	408	1	0	0	0	0	0	0	0	1	3555	214	8	5		5	CLIC1	6	31700051	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	115434	31700051	139415016	1274	79092											
HSPA1L	3305	broad.mit.edu	37	chr6	31779499	31779499	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcatatctgcttgtacaAcaggatcattaaatttcctg	11	16	6	8	0	3	0	2	0	1	0	4	1	4	1	1	1	3	3	1	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31779499A>T	ENST00000375654.4	-	2	440	c.251T>A	c.(250-252)gTt>gAt	p.V84D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.V84D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	84					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGCTTGTACAACAGGATCATT	0.443													9	173					0	0	0	0	T	31779499	A	T	31779499	3	4	408	1	0	0	0	0	1	0	0	0	7462	43	2	5	1678	5	HSPA1L	6	31779499	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	79448	31779499	139335568	1275	79093											
EHMT2	10919	broad.mit.edu	37	chr6	31860502	31860502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagttcagcttcctccttTtggccagatctggaagaaga	9	12	10	10	0	2	4	1	1	1	3	4	5	4	5	3	2	1	2	3	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31860502T>A	ENST00000395728.3	-	5	847	c.848A>T	c.(847-849)aAa>aTa	p.K283I	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.K283I|EHMT2_ENST00000375530.4_Missense_Mutation_p.K226I|EHMT2_ENST00000375537.4_Missense_Mutation_p.K226I			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	226					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTTCCTCCTTTTGGCCAGATC	0.602													7	136					0	0	0	0	A	31860502	T	A	31860502	3	1	408	1	0	0	0	0	1	0	0	0	5020	1841	64	5	3047	5	EHMT2	6	31860502	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	81003	31860502	139254565	1276	79094											
SKIV2L	6499	broad.mit.edu	37	chr6	31937436	31937436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgccaagatggagacaGcggctaccttgctacggcgg	8	7	16	10	3	0	2	0	0	0	2	0	3	0	2	2	5	5	2	2	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31937436G>A	ENST00000375394.2	+	28	3798	c.3685G>A	c.(3685-3687)Gcg>Acg	p.A1229T	SKIV2L_ENST00000544581.1_Missense_Mutation_p.A1036T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1229						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GATGGAGACAGCGGCTACCTT	0.582													8	115					0	0	0	0	A	31937436	G	A	31937436	3	1	408	1	0	0	0	0	1	0	0	0	14447	971	34	4	3795	4	SKIV2L	6	31937436	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	76934	31937436	139177631	1277	79095											
TNXB	7148	broad.mit.edu	37	chr6	32029986	32029986	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctggccaccgtggaagccGtacaggttcatcttgtactt	7	11	11	12	3	2	0	1	0	1	0	2	1	2	1	3	3	3	4	3	3	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32029986G>A	ENST00000375244.3	-	20	7317	c.7116C>T	c.(7114-7116)taC>taT	p.Y2372Y	TNXB_ENST00000375247.2_Silent_p.Y2372Y			P22105	TENX_HUMAN	tenascin XB	2434	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAAGCCGTACAGGTTCA	0.642													13	52					0	0	0	0	A	32029986	G	A	32029986	2	1	408	1	0	0	0	0	0	0	0	1	16440	1140	40	1		1	TNXB	6	32029986	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	92550	32029986	139085081	1278	79096											
TNXB	7148	broad.mit.edu	37	chr6	32032761	32032761	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtccccattcttaaactgGaccaagaaatggtcaaactg	13	9	7	12	1	2	1	1	0	1	1	3	2	3	2	4	2	2	0	4	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32032761G>A	ENST00000375244.3	-	19	6879	c.6678C>T	c.(6676-6678)gtC>gtT	p.V2226V	TNXB_ENST00000375247.2_Silent_p.V2226V			P22105	TENX_HUMAN	tenascin XB	2298	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTTAAACTGGACCAAGAAAT	0.607													5	24					0	0	0	0	A	32032761	G	A	32032761	2	1	408	1	0	0	0	0	0	0	0	1	16440	1161	41	2		2	TNXB	6	32032761	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2775	32032761	139082306	1279	79097											
TNXB	7148	broad.mit.edu	37	chr6	32041536	32041536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagactgtgacctctcgctgGtctgccgccaccggcaccac	6	8	10	17	3	2	2	0	1	2	1	3	2	2	2	5	2	1	2	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32041536G>A	ENST00000375244.3	-	12	4770	c.4569C>T	c.(4567-4569)gaC>gaT	p.D1523D	TNXB_ENST00000375247.2_Silent_p.D1523D			P22105	TENX_HUMAN	tenascin XB	1610	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCTCGCTGGTCTGCCGCCA	0.577													13	24					0	0	0	0	A	32041536	G	A	32041536	2	1	408	1	0	0	0	0	0	0	0	1	16440	1252	44	4		4	TNXB	6	32041536	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	8775	32041536	139073531	1280	79098											
PRRT1	80863	broad.mit.edu	37	chr6	32117026	32117026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagtagttctcgtggtgCtgcgcggcgatgatgatgac	6	11	14	10	4	1	3	0	3	1	0	3	4	2	3	1	2	2	3	1	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32117026C>T	ENST00000211413.5	-	4	1018	c.894G>A	c.(892-894)caG>caA	p.Q298Q	PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375152.2_Silent_p.Q217Q|PRRT1_ENST00000375150.2_Silent_p.Q217Q	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	298					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TCTCGTGGTGCTGCGCGGCGA	0.632													14	36					0	0	0	0	T	32117026	C	T	32117026	2	4	408	1	0	0	0	0	0	0	0	1	12688	796	28	4		4	PRRT1	6	32117026	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	75490	32117026	138998041	1281	79099											
C6orf10	10665	broad.mit.edu	37	chr6	32260981	32260981	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttatcctcaaaactctccTtcttttcttgggcttcctgt	5	19	4	13	0	4	0	1	0	3	0	7	0	6	0	3	1	1	1	3	1	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32260981T>G	ENST00000375015.4	-	26	1666	c.1466A>C	c.(1465-1467)aAg>aCg	p.K489T	C6orf10_ENST00000533191.1_Missense_Mutation_p.K488T|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_Missense_Mutation_p.K488T|C6orf10_ENST00000527965.1_Missense_Mutation_p.K474T|C6orf10_ENST00000447241.2_Missense_Mutation_p.K490T			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	490	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AAAACTCTCCTTCTTTTCTTG	0.373													10	180					0	0	0	0	G	32260981	T	G	32260981	3	3	408	1	0	0	0	0	1	0	0	0	2338	1609	56	5	226	5	C6orf10	6	32260981	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	143955	32260981	138854086	1282	79100											
TAP2	6891	broad.mit.edu	37	chr6	32797232	32797232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccaggatgaggaccCgcgggtctcgtacaagggcc	8	6	13	14	3	2	1	1	1	1	0	4	3	3	3	4	4	1	1	4	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32797232C>T	ENST00000374897.2	-	11	2008	c.1877G>A	c.(1876-1878)cGg>cAg	p.R626Q	TAP2_ENST00000452392.2_Missense_Mutation_p.R626Q|TAP2_ENST00000374899.4_Missense_Mutation_p.R626Q	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	626	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GATGAGGACCCGCGGGTCTCG	0.617													5	19					0	0	0	0	T	32797232	C	T	32797232	3	4	408	1	0	0	0	0	1	0	0	0	15642	652	23	1	276	1	TAP2	6	32797232	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	536251	32797232	138317835	1283	79101											
TAP1	6890	broad.mit.edu	37	chr6	32819972	32819972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggctgtgcacgtggcccAtggtgttgttatagatcccg	6	12	14	9	2	0	1	0	0	0	1	1	1	1	1	2	3	1	4	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32819972A>G	ENST00000354258.4	-	3	1099	c.938T>C	c.(937-939)aTg>aCg	p.M313T	TAP1_ENST00000425148.2_Missense_Mutation_p.M52T|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	313	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CACGTGGCCCATGGTGTTGTT	0.532													11	99					0	0	0	0	G	32819972	A	G	32819972	3	3	408	1	0	0	0	0	1	0	0	0	15641	217	8	5	1524	5	TAP1	6	32819972	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	22740	32819972	138295095	1284	79102											
COL11A2	1302	broad.mit.edu	37	chr6	33139529	33139529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctccagggggaccctgCgggcctgggcgccctggcgg	2	5	19	15	3	0	0	0	0	0	0	1	1	1	1	4	6	2	2	4	6	0	0	rs146093235	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33139529C>T	ENST00000341947.2	-	42	3338	c.3111G>A	c.(3109-3111)ccG>ccA	p.P1037P	COL11A2_ENST00000374714.1_Silent_p.P1011P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.P990P|COL11A2_ENST00000374708.4_Silent_p.P951P|COL11A2_ENST00000374712.1_Silent_p.P956P|COL11A2_ENST00000357486.1_Silent_p.P1016P|COL11A2_ENST00000361917.1_Silent_p.P930P|COL11A2_ENST00000395197.1_Silent_p.P977P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1037	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGACCCTGCGGGCCTGGGC	0.657													16	35					0	0	0	0	T	33139529	C	T	33139529	2	4	408	1	0	0	0	0	0	0	0	1	3698	755	27	1		1	COL11A2	6	33139529	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	319557	33139529	137975538	1285	79103											
RXRB	6257	broad.mit.edu	37	chr6	33168031	33168031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactcaccccgcccgctgtCgcccatcccgtcccgtccag	4	6	8	23	5	1	0	1	0	0	0	5	0	4	0	7	0	0	2	7	0	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33168031C>T	ENST00000374680.3	-	1	434	c.223G>A	c.(223-225)Gac>Aac	p.D75N	RXRB_ENST00000374685.4_Missense_Mutation_p.D75N|RXRB_ENST00000413614.2_Silent_p.A61A|RXRB_ENST00000544186.1_Intron	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	75	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGCCCGCTGTCGCCCATCCCG	0.716													12	18					0	0	0	0	T	33168031	C	T	33168031	3	4	408	1	0	0	0	0	1	0	0	0	13849	884	31	1	1418	1	RXRB	6	33168031	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	28502	33168031	137947036	1286	79104											
SLC39A7	7922	broad.mit.edu	37	chr6	33170386	33170386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaagaaaaggaaacAagaggggttcagaagaggcg	19	2	17	3	1	1	5	1	0	0	5	1	8	1	7	0	5	1	1	0	5	7	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33170386A>G	ENST00000374677.3	+	5	1222	c.849A>G	c.(847-849)acA>acG	p.T283T	SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Silent_p.T283T	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	283						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AAAAGGAAACAAGAGGGGTTC	0.498													12	37					0	0	0	0	G	33170386	A	G	33170386	2	3	408	1	0	0	0	0	0	0	0	1	14711	117	5	5		5	SLC39A7	6	33170386	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2355	33170386	137944681	1287	79105											
VPS52	6293	broad.mit.edu	37	chr6	33235683	33235683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaagagcggtagtaagAcaggtaaatcttgctcagcg	13	8	13	7	2	2	2	1	0	1	2	2	2	2	2	0	3	3	5	0	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33235683A>G	ENST00000445902.2	-	9	1110	c.892T>C	c.(892-894)Tct>Cct	p.S298P	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.S173P	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	298					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CGGTAGTAAGACAGGTAAATC	0.532													42	136					0	0	0	0	G	33235683	A	G	33235683	3	3	408	1	0	0	0	0	1	0	0	0	17310	275	10	5	1327	5	VPS52	6	33235683	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	65297	33235683	137879384	1288	79106											
RGL2	5863	broad.mit.edu	37	chr6	33264477	33264477	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccctgatgtccgggtaTccagtaggtgtctgaccagg	7	10	13	11	1	1	2	0	2	1	0	4	2	4	2	4	3	0	2	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33264477T>A	ENST00000497454.1	-	4	812	c.317A>T	c.(316-318)gAt>gTt	p.D106V	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.D24V	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	106	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTCCGGGTATCCAGTAGGTG	0.612													22	68					0	0	0	0	A	33264477	T	A	33264477	3	1	408	1	0	0	0	0	1	0	0	0	13359	1435	50	5	2076	5	RGL2	6	33264477	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	28794	33264477	137850590	1289	79107											
KIFC1	3833	broad.mit.edu	37	chr6	33371120	33371120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagaagacaggacccCggtgttccacagctattgcc	10	9	9	13	1	0	2	0	0	0	2	2	3	2	3	5	2	2	2	5	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33371120C>T	ENST00000428849.2	+	4	730	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	94					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACAGGACCCCGGTGTTCCAC	0.493													37	107					0	0	0	0	T	33371120	C	T	33371120	3	4	408	1	0	0	0	0	1	0	0	0	8363	643	23	1	294	1	KIFC1	6	33371120	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	106643	33371120	137743947	1290	79108											
GRM4	2914	broad.mit.edu	37	chr6	34004192	34004192	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgtgcggttctctgtgggCcgcatgtcatagggacacgt	5	10	14	12	4	2	0	1	0	1	0	3	1	2	1	2	3	1	2	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:34004192C>G	ENST00000374181.3	-	8	1864	c.1695G>C	c.(1693-1695)cgG>cgC	p.R565R	GRM4_ENST00000538487.1_Silent_p.R565R|GRM4_ENST00000545715.1_Silent_p.R257R|GRM4_ENST00000535756.1_Silent_p.R432R|GRM4_ENST00000544773.1_Silent_p.R396R|GRM4_ENST00000455714.2_Silent_p.R425R|GRM4_ENST00000374177.3_Silent_p.R449R	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	565					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCTCTGTGGGCCGCATGTCAT	0.647													19	39					0	0	0	0	G	34004192	C	G	34004192	2	3	408	1	0	0	0	0	0	0	0	1	6849	726	26	4		4	GRM4	6	34004192	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	633072	34004192	137110875	1291	79109											
SPDEF	25803	broad.mit.edu	37	chr6	34506121	34506121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccggatgatgcccttcttgTaatactggcggatggagcgg	7	11	14	9	3	1	1	0	1	1	0	2	4	2	4	2	5	3	1	2	5	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:34506121T>C	ENST00000374037.3	-	6	1352	c.938A>G	c.(937-939)tAc>tGc	p.Y313C	SPDEF_ENST00000544425.1_Missense_Mutation_p.Y297C	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	313					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GCCCTTCTTGTAATACTGGCG	0.612													46	156					0	0	0	0	C	34506121	T	C	34506121	3	2	408	1	0	0	0	0	1	0	0	0	15116	1638	57	5	73	5	SPDEF	6	34506121	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	501929	34506121	136608946	1292	79110											
SPDEF	25803	broad.mit.edu	37	chr6	34512036	34512036	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgtcctcagggtacAgcatgtcaaagtaggagagg	11	8	14	8	0	2	1	2	0	0	1	3	2	3	1	1	3	4	5	1	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:34512036A>G	ENST00000374037.3	-	2	611	c.197T>C	c.(196-198)cTg>cCg	p.L66P	SPDEF_ENST00000544425.1_Missense_Mutation_p.L66P	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	66					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTCAGGGTACAGCATGTCAAA	0.667													23	77					0	0	0	0	G	34512036	A	G	34512036	3	3	408	1	0	0	0	0	1	0	0	0	15116	188	7	5	830	5	SPDEF	6	34512036	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5915	34512036	136603031	1293	79111											
SCUBE3	222663	broad.mit.edu	37	chr6	35205733	35205733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgccatgatgcagcgaCtggtgtccactgcacctgcc	8	9	11	13	1	0	1	0	1	0	0	1	2	1	1	4	1	5	2	4	1	1	1	rs17854740		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:35205733C>T	ENST00000274938.7	+	7	767	c.767C>T	c.(766-768)aCt>aTt	p.T256I	SCUBE3_ENST00000394681.1_Missense_Mutation_p.T272I	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	256	EGF-like 6.			T -> I (in Ref. 6; AAH52263).	protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GATGCAGCGACTGGTGTCCAC	0.547													41	114					0	0	0	0	T	35205733	C	T	35205733	3	4	408	1	0	0	0	0	1	0	0	0	14033	565	20	4	793	4	SCUBE3	6	35205733	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	693697	35205733	135909334	1294	79112											
ZNF76	7629	broad.mit.edu	37	chr6	35260407	35260407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagcttgtataagcaccaCgtggtgcacacacactgcaa	12	8	9	12	2	0	0	0	0	0	0	1	1	0	0	1	1	4	5	1	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:35260407C>T	ENST00000373953.3	+	10	1274	c.1008C>T	c.(1006-1008)caC>caT	p.H336H	ZNF76_ENST00000339411.5_Silent_p.H336H|ZNF76_ENST00000440666.2_Silent_p.H310H	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	336					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATAAGCACCACGTGGTGCACA	0.627													25	86					0	0	0	0	T	35260407	C	T	35260407	2	4	408	1	0	0	0	0	0	0	0	1	18229	535	19	1		1	ZNF76	6	35260407	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	54674	35260407	135854660	1295	79113											
SLC26A8	116369	broad.mit.edu	37	chr6	35923102	35923102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtttcttgatgagttatTaggaagccaaacttcctcca	10	14	8	9	0	1	2	0	2	1	0	3	3	3	3	3	1	2	3	3	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:35923102T>C	ENST00000490799.1	-	17	2412	c.2059A>G	c.(2059-2061)Aat>Gat	p.N687D	SLC26A8_ENST00000355574.2_Missense_Mutation_p.N687D|SLC26A8_ENST00000394602.2_Missense_Mutation_p.N582D	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	687	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GATGAGTTATTAGGAAGCCAA	0.507													21	71					0	0	0	0	C	35923102	T	C	35923102	3	2	408	1	0	0	0	0	1	0	0	0	14611	1754	61	5	869	5	SLC26A8	6	35923102	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	662695	35923102	135191965	1296	79114											
PI16	221476	broad.mit.edu	37	chr6	36922666	36922666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgcacaacctctacCgggcccaggtatccccgacg	8	6	11	16	3	1	0	0	0	1	0	2	2	2	1	5	3	4	3	5	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:36922666C>T	ENST00000373674.3	+	1	458	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	44						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAACCTCTACCGGGCCCAGGT	0.627													20	38					0	0	0	0	T	36922666	C	T	36922666	3	4	408	1	0	0	0	0	1	0	0	0	11941	643	23	1	132	1	PI16	6	36922666	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	999564	36922666	134192401	1297	79115											
RNF8	9025	broad.mit.edu	37	chr6	37344706	37344708	+	In_Frame_Del	DEL	AGA	AGA	-																															attgtgtgtcttgcaggaagAgaaggagaagatgcaagcac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:37344706_37344708delAGA	ENST00000373479.4	+	6	1326_1328	c.1133_1135delAGA	c.(1132-1137)gag>g	p.EK380del	RNF8_ENST00000469731.1_In_Frame_Del_p.EK380del	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	380					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTGCAGGAAGAGAAGGAGAAGAT	0.404													10	65	---	---	---	---					-	37344708	AGA	-	37344706	7	5	408	1	0	1	0	1	0	0	0	0	13585	304	11	0	1155	0	RNF8	6	37344706	In_Frame_Del	DEL	AGA	TCGA-F7-A624-01A-22D-A30E-08	422040	37344706	133770361	1298	79116											
BTBD9	114781	broad.mit.edu	37	chr6	38548147	38548147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtatcaccatctaataagGctgatttcagctcccccttt	10	13	6	12	0	3	1	2	1	1	0	4	2	4	1	3	1	1	3	3	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:38548147G>A	ENST00000481247.1	-	5	1032	c.881C>T	c.(880-882)gCc>gTc	p.A294V	BTBD9_ENST00000419706.2_Missense_Mutation_p.A235V|BTBD9_ENST00000314100.6_Missense_Mutation_p.A226V|BTBD9_ENST00000408958.1_Missense_Mutation_p.A226V|BTBD9_ENST00000403056.1_Missense_Mutation_p.A294V	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	294					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATCTAATAAGGCTGATTTCAG	0.388													36	121					0	0	0	0	A	38548147	G	A	38548147	3	1	408	1	0	0	0	0	1	0	0	0	1557	1203	42	4	1076	4	BTBD9	6	38548147	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1203441	38548147	132566920	1299	79117											
GLO1	2739	broad.mit.edu	37	chr6	38670782	38670782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtcggagcagcaactgaGggcggcctcgtccgtgaggc	6	5	17	13	6	0	2	0	2	0	0	3	3	1	3	2	4	3	2	2	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:38670782G>T	ENST00000373365.4	-	1	135	c.49C>A	c.(49-51)Ctc>Atc	p.L17I		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	17					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	CAGCAACTGAGGGCGGCCTCG	0.697													12	32					3.45872e-05	3.53152e-05	1	0	T	38670782	G	T	38670782	3	4	408	1	0	0	0	0	1	0	0	0	6500	1000	35	4	529	4	GLO1	6	38670782	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	122635	38670782	132444285	1300	79118											
DNAH8	1769	broad.mit.edu	37	chr6	38810477	38810478	+	Frame_Shift_Ins	INS	-	-	T																															ggacttaaagattggcaagcINSttttttggatctcaaaaaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:38810477_38810478insT	ENST00000359357.3	+	33	4246_4247	c.3992_3993insT	c.(3991-3993)gttfs	p.V1331fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.V1548fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.V1331fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATTGGCAAGCTTTTTTGGATC	0.356													18	66	---	---	---	---					T	38810478	-	T	38810477	7	5	408	1	0	1	1	0	0	0	0	0	4643	797	28	0	4114	0	DNAH8	6	38810477	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	139695	38810477	132304590	1301	79119											
DNAH8	1769	broad.mit.edu	37	chr6	38905911	38905911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacccgcggaagcatcctcTacttcctcatcacagagatg	10	8	7	16	2	3	1	2	0	1	1	5	3	5	2	4	1	2	1	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:38905911T>C	ENST00000359357.3	+	76	11328	c.11074T>C	c.(11074-11076)Tac>Cac	p.Y3692H	DNAH8_ENST00000441566.1_Missense_Mutation_p.Y3656H|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.Y3909H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGCATCCTCTACTTCCTCAT	0.517													21	77					0	0	0	0	C	38905911	T	C	38905911	3	2	408	1	0	0	0	0	1	0	0	0	4643	1522	53	5	11368	5	DNAH8	6	38905911	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	95434	38905911	132209156	1302	79120											
GLP1R	2740	broad.mit.edu	37	chr6	39047367	39047367	+	Frame_Shift_Del	DEL	C	C	-																															aagtccacgctgacactcatCcccctgctggggactcatga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:39047367delC	ENST00000373256.4	+	11	1114	c.1071delC	c.(1069-1071)atfs	p.I357fs		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	357					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TGACACTCATCCCCCTGCTGG	0.567													23	53	---	---	---	---					-	39047367	C	-	39047367	7	5	408	1	0	1	0	1	0	0	0	0	6503	845	30	0	1113	0	GLP1R	6	39047367	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	141456	39047367	132067700	1303	79121											
KCNK16	83795	broad.mit.edu	37	chr6	39284104	39284104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagctggcagcatctgTgcagaagcagggggcccagt	9	5	16	11	0	1	2	0	0	1	2	1	2	1	2	2	3	4	5	2	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:39284104T>C	ENST00000373229.5	-	5	789	c.776A>G	c.(775-777)cAc>cGc	p.H259R	KCNK16_ENST00000437525.2_Missense_Mutation_p.H259R|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000507712.1_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	259						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCAGCATCTGTGCAGAAGCAG	0.637													7	23					0	0	0	0	C	39284104	T	C	39284104	3	2	408	1	0	0	0	0	1	0	0	0	8116	1696	59	5	546	5	KCNK16	6	39284104	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	236737	39284104	131830963	1304	79122											
KIF6	221458	broad.mit.edu	37	chr6	39313554	39313554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgagggcaggattttcctgGcattcacatcactgcaaaac	11	9	10	11	1	2	0	2	0	0	0	3	2	3	1	1	3	2	3	1	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:39313554G>C	ENST00000287152.7	-	21	2337	c.2243C>G	c.(2242-2244)gCc>gGc	p.A748G	KIF6_ENST00000373215.3_Missense_Mutation_p.A731G|KIF6_ENST00000373213.4_Missense_Mutation_p.A587G|KIF6_ENST00000229913.5_Missense_Mutation_p.A199G|KIF6_ENST00000541946.1_Missense_Mutation_p.A199G|KIF6_ENST00000373216.3_Missense_Mutation_p.A731G|KIF6_ENST00000538893.1_Missense_Mutation_p.A692G|KIF6_ENST00000394362.1_Missense_Mutation_p.A182G	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	748					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTTTCCTGGCATTCACATC	0.473													13	38					0	0	0	0	C	39313554	G	C	39313554	3	2	408	1	0	0	0	0	1	0	0	0	8359	1203	42	4	213	4	KIF6	6	39313554	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	29450	39313554	131801513	1305	79123											
TREM1	54210	broad.mit.edu	37	chr6	41248876	41248876	+	Frame_Shift_Del	DEL	G	G	-																															tagaattctcattggagccaGgggtccctgaaaaacctgca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:41248876delG	ENST00000591620.1	-	3	448	c.422delC	c.(421-423)ctfs	p.P141fs	TREM1_ENST00000244709.4_Frame_Shift_Del_p.P141fs|TREM1_ENST00000589614.1_Frame_Shift_Del_p.P141fs|TREM1_ENST00000334475.6_Intron	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	141					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	ATTGGAGCCAGGGGTCCCTGA	0.488													13	50	---	---	---	---					-	41248876	G	-	41248876	7	5	408	1	0	1	0	1	0	0	0	0	16565	1000	35	0	290	0	TREM1	6	41248876	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	1935322	41248876	129866191	1306	79124											
FRS3	10817	broad.mit.edu	37	chr6	41738916	41738916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaggccattccagcccGgctcctctgggctcagtctc	5	8	12	16	1	3	0	1	0	2	0	6	0	5	0	4	4	1	3	4	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:41738916G>A	ENST00000373018.3	-	7	1171	c.920C>T	c.(919-921)cCg>cTg	p.P307L	FRS3_ENST00000259748.2_Missense_Mutation_p.P307L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	307					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATTCCAGCCCGGCTCCTCTGG	0.687													22	40					0	0	0	0	A	41738916	G	A	41738916	3	1	408	1	0	0	0	0	1	0	0	0	6110	1116	39	1	562	1	FRS3	6	41738916	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	490040	41738916	129376151	1307	79125											
GUCA1B	2979	broad.mit.edu	37	chr6	42153509	42153509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagtttgtagctctcgccgGcaggctttcttcagctggta	5	14	11	11	2	4	0	2	0	2	0	5	0	4	0	1	3	2	7	1	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:42153509G>A	ENST00000230361.3	-	3	479	c.384C>T	c.(382-384)tgC>tgT	p.C128C		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	128					body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			GCTCTCGCCGGCAGGCTTTCT	0.562													15	49					0	0	0	0	A	42153509	G	A	42153509	2	1	408	1	0	0	0	0	0	0	0	1	6939	1195	42	4		4	GUCA1B	6	42153509	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	414593	42153509	128961558	1308	79126											
TRERF1	55809	broad.mit.edu	37	chr6	42236721	42236721	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggctgctggggcaccTgctggtagcgggaagggata	7	7	20	7	1	0	1	0	1	0	0	0	3	0	3	1	7	3	5	1	7	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:42236721T>C	ENST00000541110.1	-	5	1176	c.608A>G	c.(607-609)cAg>cGg	p.Q203R	TRERF1_ENST00000354325.2_Missense_Mutation_p.Q203R|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q203R|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q203R|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q203R			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	203	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGGCACCTGCTGGTAGCG	0.617													35	88					0	0	0	0	C	42236721	T	C	42236721	3	2	408	1	0	0	0	0	1	0	0	0	16570	1580	55	5	3050	5	TRERF1	6	42236721	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	83212	42236721	128878346	1309	79127											
UBR2	23304	broad.mit.edu	37	chr6	42604929	42604929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagtttctcgcttacttGcaggtaaagcatttccccta	8	14	6	13	1	1	0	0	0	1	0	4	0	3	0	3	1	3	5	3	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:42604929G>A	ENST00000372901.1	+	15	2113	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T	UBR2_ENST00000372899.1_Missense_Mutation_p.A619T|UBR2_ENST00000372883.3_Missense_Mutation_p.A123T			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	619					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCGCTTACTTGCAGGTAAAGC	0.353													18	58					0	0	0	0	A	42604929	G	A	42604929	3	1	408	1	0	0	0	0	1	0	0	0	16998	1319	46	4	2059	4	UBR2	6	42604929	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	368208	42604929	128510138	1310	79128											
PEX6	5190	broad.mit.edu	37	chr6	42933788	42933788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctcactcaccttcccGcacattctcctcactttggc	5	12	4	20	1	4	0	3	0	1	0	6	0	5	0	4	1	1	2	4	1	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:42933788G>A	ENST00000304611.8	-	12	2425	c.2356C>T	c.(2356-2358)Cgg>Tgg	p.R786W	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	786					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCACCTTCCCGCACATTCTCC	0.577													45	179					0	0	0	0	A	42933788	G	A	42933788	3	1	408	1	0	0	0	0	1	0	0	0	11822	1086	38	1	610	1	PEX6	6	42933788	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	328859	42933788	128181279	1311	79129											
CUL7	9820	broad.mit.edu	37	chr6	43017324	43017324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgtcattgagtcgcTgtggcagagtcagcagcaag	9	8	15	9	1	2	2	2	1	0	1	3	2	2	2	0	2	2	5	0	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43017324T>C	ENST00000535468.1	-	7	1984	c.1898A>G	c.(1897-1899)cAg>cGg	p.Q633R	CUL7_ENST00000265348.3_Missense_Mutation_p.Q549R	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	549					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			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)			ATTGAGTCGCTGTGGCAGAGT	0.542													23	78					0	0	0	0	C	43017324	T	C	43017324	3	2	408	1	0	0	0	0	1	0	0	0	4092	1580	55	5	3530	5	CUL7	6	43017324	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	83536	43017324	128097743	1312	79130											
MRPL2	51069	broad.mit.edu	37	chr6	43022195	43022195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcaacgttggatactcgGcctactgttgctacgcacgt	8	12	10	11	4	1	1	1	1	0	0	2	2	1	2	1	2	5	4	1	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43022195G>A	ENST00000230413.5	-	6	673	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	MRPL2_ENST00000388752.3_Silent_p.G245G|MRPL2_ENST00000489623.1_Missense_Mutation_p.P99S			Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	0					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGGATACTCGGCCTACTGTTG	0.547													22	74					0	0	0	0	A	43022195	G	A	43022195	3	1	408	1	0	0	0	0	1	0	0	0	9855	1190	42	4	186	4	MRPL2	6	43022195	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4871	43022195	128092872	1313	79131											
CUL9	23113	broad.mit.edu	37	chr6	43154058	43154058	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctctgaattctccagccgTagtggctatggagaatatgt	9	12	11	9	2	2	2	0	1	2	1	3	3	2	2	2	2	1	3	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43154058T>C	ENST00000252050.4	+	4	1200	c.1116T>C	c.(1114-1116)cgT>cgC	p.R372R	CUL9_ENST00000354495.3_Silent_p.R372R|CUL9_ENST00000372647.2_Silent_p.R372R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	372					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTCCAGCCGTAGTGGCTATG	0.572													35	112					0	0	0	0	C	43154058	T	C	43154058	2	2	408	1	0	0	0	0	0	0	0	1	4093	1625	57	5		5	CUL9	6	43154058	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	131863	43154058	127961009	1314	79132											
SLC22A7	10864	broad.mit.edu	37	chr6	43267405	43267405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctggtagcctacgtgagtAccctggtgctgggcctggca	5	10	15	11	1	0	1	0	1	0	0	0	1	0	1	3	4	5	5	3	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43267405A>G	ENST00000372585.5	+	4	639	c.544A>G	c.(544-546)Acc>Gcc	p.T182A	SLC22A7_ENST00000372574.3_Missense_Mutation_p.T180A|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.T180A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	182						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTACGTGAGTACCCTGGTGCT	0.577													16	263					0	0	0	0	G	43267405	A	G	43267405	3	3	408	1	0	0	0	0	1	0	0	0	14547	391	14	5	554	5	SLC22A7	6	43267405	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	113347	43267405	127847662	1315	79133											
TJAP1	93643	broad.mit.edu	37	chr6	43473043	43473043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcccgccccagcccagTgcccagcacccctgcctcag	5	3	11	22	2	1	0	1	0	0	0	1	0	1	0	8	1	4	1	8	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43473043T>C	ENST00000372444.2	+	11	1527	c.1094T>C	c.(1093-1095)gTg>gCg	p.V365A	TJAP1_ENST00000259751.1_Missense_Mutation_p.V365A|TJAP1_ENST00000372449.1_Missense_Mutation_p.V375A|TJAP1_ENST00000372452.1_Missense_Mutation_p.V365A|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.V365A|TJAP1_ENST00000372445.5_Missense_Mutation_p.V375A|TJAP1_ENST00000438588.2_Missense_Mutation_p.V375A	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	375						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			cccagcccagtgcccagcacc	0.687													15	37					0	0	0	0	C	43473043	T	C	43473043	3	2	408	1	0	0	0	0	1	0	0	0	16022	1696	59	5	1154	5	TJAP1	6	43473043	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	205638	43473043	127642024	1316	79134											
RSPH9	221421	broad.mit.edu	37	chr6	43638530	43638530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcttatctcagggtcCtggagcatccagatggagag	8	10	13	10	0	2	2	1	0	2	2	5	4	4	3	3	3	1	1	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43638530C>A	ENST00000372165.4	+	6	780	c.727C>A	c.(727-729)Ctg>Atg	p.L243M	RSPH9_ENST00000372163.4_Silent_p.S225S	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTCAGGGTCCTGGAGCATCC	0.647									Kartagener syndrome				22	59					3.10358e-05	3.16963e-05	1	0	A	43638530	C	A	43638530	3	1	408	1	0	0	0	0	1	0	0	0	13793	668	24	4	693	4	RSPH9	6	43638530	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	165487	43638530	127476537	1317	79135											
SLC29A1	2030	broad.mit.edu	37	chr6	44197128	44197128	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcctcctccattgcagaTacaaagctgtctggcttatc	8	14	6	13	0	1	1	0	0	1	1	5	1	4	1	3	1	3	3	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:44197128T>C	ENST00000393841.1	+	4	522	c.29_splice	c.e4-1	p.Y11_splice	SLC29A1_ENST00000393844.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371713.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371740.5_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371724.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371708.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000427851.2_Splice_Site_p.Y11_splice|SLC29A1_ENST00000313248.7_Splice_Site_p.Y90_splice|SLC29A1_ENST00000371755.3_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371731.1_Splice_Site_p.Y11_splice	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	11					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CCATTGCAGATACAAAGCTGT	0.557													26	81					0	0	0	0	C	44197128	T	C	44197128	5	2	408	1	0	0	0	0	0	0	1	0	14622	1420	49	5	37	5	SLC29A1	6	44197128	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	558598	44197128	126917939	1318	79136											
SLC35B2	347734	broad.mit.edu	37	chr6	44224080	44224080	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcccacctacccaccTggagccctgtggcacagaag	9	5	11	16	0	0	2	0	1	0	1	0	3	0	3	5	2	3	2	5	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:44224080T>A	ENST00000393812.3	-	3	502	c.360_splice	c.e3+1	p.Q120_splice	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000393810.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	120					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTACCCACCTGGAGCCCTGT	0.617													23	210					0	0	0	0	A	44224080	T	A	44224080	5	1	408	1	0	0	0	0	0	0	1	0	14664	1594	55	5	947	5	SLC35B2	6	44224080	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	26952	44224080	126890987	1319	79137											
AARS2	57505	broad.mit.edu	37	chr6	44275104	44275104	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtctgccacccctactcGgcccaagtaagggggtgccc	6	7	11	17	2	1	0	0	0	1	0	3	0	1	0	5	3	3	1	5	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:44275104G>A	ENST00000244571.4	-	6	924	c.922C>T	c.(922-924)Cga>Tga	p.R308*	TMEM151B_ENST00000438774.2_3'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	308					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACCCCTACTCGGCCCAAGTAA	0.632													9	6					0	0	0	0	A	44275104	G	A	44275104	4	1	408	1	0	0	0	0	0	1	0	0	20	1124	39	1	2103	1	AARS2	6	44275104	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	51024	44275104	126839963	1320	79138											
RUNX2	860	broad.mit.edu	37	chr6	45390427	45390427	+	Silent	SNP	G	G	A																															gtggctgcgcaacagcagcaGcaacagcagcagcagcaaca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:45390427G>A	ENST00000371438.1	+	2	514	c.156G>A	c.(154-156)caG>caA	p.Q52Q	RUNX2_ENST00000541979.1_Silent_p.Q120Q|RUNX2_ENST00000359524.5_Silent_p.Q38Q|RUNX2_ENST00000371432.3_Silent_p.Q38Q|RUNX2_ENST00000465038.2_Silent_p.Q52Q|RUNX2_ENST00000352853.5_Silent_p.Q120Q|RUNX2_ENST00000371436.6_Silent_p.Q52Q|RUNX2_ENST00000576263.1_Silent_p.Q52Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	52	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						aacagcagcagcaacagcagc	0.716													26	74					0	0	0	0	A	45390427	G	A	45390427	2	1	408	1	0	0	0	0	0	0	0	1	13833	962	34	4		4	RUNX2	6	45390427	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1115323	45390427	125724640	1321	79139	1040	2									
RUNX2	860	broad.mit.edu	37	chr6	45390430	45390430	+	Silent	SNP	A	A	G																															gctgcgcaacagcagcagcaAcagcagcagcagcaacagca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:45390430A>G	ENST00000371438.1	+	2	517	c.159A>G	c.(157-159)caA>caG	p.Q53Q	RUNX2_ENST00000541979.1_Silent_p.Q121Q|RUNX2_ENST00000359524.5_Silent_p.Q39Q|RUNX2_ENST00000371432.3_Silent_p.Q39Q|RUNX2_ENST00000465038.2_Silent_p.Q53Q|RUNX2_ENST00000352853.5_Silent_p.Q121Q|RUNX2_ENST00000371436.6_Silent_p.Q53Q|RUNX2_ENST00000576263.1_Silent_p.Q53Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	53	Poly-Gln.		Q -> L (in CLCD).		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.726													25	72					0	0	0	0	G	45390430	A	G	45390430	2	3	408	1	0	0	0	0	0	0	0	1	13833	40	2	5		5	RUNX2	6	45390430	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3	45390430	125724637	1322	79140	1040	2									
ENPP5	59084	broad.mit.edu	37	chr6	46135786	46135786	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtataatggttagggtaggTttttgtaataaaaacattag	15	15	10	1	0	0	0	0	0	0	0	0	0	0	0	0	3	1	5	0	3	9	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:46135786T>C	ENST00000371383.2	-	3	474	c.214A>G	c.(214-216)Acc>Gcc	p.T72A	ENPP5_ENST00000230565.3_Missense_Mutation_p.T72A			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	72						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTAGGGTAGGTTTTTGTAATA	0.348													11	39					0	0	0	0	C	46135786	T	C	46135786	3	2	408	1	0	0	0	0	1	0	0	0	5171	1725	60	5	1231	5	ENPP5	6	46135786	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	745356	46135786	124979281	1323	79141											
TDRD6	221400	broad.mit.edu	37	chr6	46659508	46659508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttggaagagtcatataaaCctcagatcaactcatcatac	15	12	5	9	0	5	2	5	0	0	2	5	3	5	3	1	1	3	0	1	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:46659508C>T	ENST00000544460.1	+	1	3897	c.3643C>T	c.(3643-3645)Cct>Tct	p.P1215S	TDRD6_ENST00000316081.6_Missense_Mutation_p.P1215S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1215					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCATATAAACCTCAGATCAA	0.299													14	53					0	0	0	0	T	46659508	C	T	46659508	3	4	408	1	0	0	0	0	1	0	0	0	15828	507	18	4	3645	4	TDRD6	6	46659508	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	523722	46659508	124455559	1324	79142											
TDRD6	221400	broad.mit.edu	37	chr6	46659966	46659966	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgttttcccagaagataaTttatggtatcgtgctgtgat	9	16	10	6	1	0	3	0	1	0	2	2	3	1	3	1	1	1	4	1	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:46659966T>C	ENST00000544460.1	+	1	4355	c.4101T>C	c.(4099-4101)aaT>aaC	p.N1367N	TDRD6_ENST00000316081.6_Silent_p.N1367N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1367	Tudor 6.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CAGAAGATAATTTATGGTATC	0.378													88	209					0	0	0	0	C	46659966	T	C	46659966	2	2	408	1	0	0	0	0	0	0	0	1	15828	1490	52	5		5	TDRD6	6	46659966	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	458	46659966	124455101	1325	79143											
GPR115	221393	broad.mit.edu	37	chr6	47682009	47682009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaagatcaataaaacccGcaatgccagagcccagtgtg	16	5	9	11	2	1	2	1	0	0	2	1	3	1	2	3	0	3	1	3	0	6	1	rs138156132	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:47682009G>A	ENST00000283303.2	+	6	1286	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	GPR115_ENST00000371220.1_Missense_Mutation_p.R400H|GPR115_ENST00000327753.3_Missense_Mutation_p.R343H	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	343					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AATAAAACCCGCAATGCCAGA	0.458													16	88					0	0	0	0	A	47682009	G	A	47682009	3	1	408	1	0	0	0	0	1	0	0	0	6681	1087	38	1	1046	1	GPR115	6	47682009	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1022043	47682009	123433058	1326	79144											
OPN5	221391	broad.mit.edu	37	chr6	47779420	47779420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatatctaggctgcacaccGtaaccacagtcaggaagtct	12	9	8	12	1	3	0	1	0	2	0	3	1	3	1	2	2	2	3	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:47779420G>A	ENST00000489301.2	+	6	1094	c.1009G>A	c.(1009-1011)Gta>Ata	p.V337I	OPN5_ENST00000371211.2_Missense_Mutation_p.V337I|OPN5_ENST00000393699.2_Missense_Mutation_p.V337I|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	337					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GCTGCACACCGTAACCACAGT	0.358													16	61					0	0	0	0	A	47779420	G	A	47779420	3	1	408	1	0	0	0	0	1	0	0	0	10954	1145	40	1	1031	1	OPN5	6	47779420	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	97411	47779420	123335647	1327	79145											
MUT	4594	broad.mit.edu	37	chr6	49427151	49427151	+	Frame_Shift_Del	DEL	A	A	-																															tcaggtaatgaggtgaaagtAaaaaaagctgattcttagct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:49427151delA	ENST00000274813.3	-	2	156	c.29delT	c.(28-30)tafs	p.L11fs		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	11					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTGAAAGTAAAAAAAGCTG	0.413													14	68	---	---	---	---					-	49427151	A	-	49427151	7	5	408	1	0	1	0	1	0	0	0	0	10061	372	13	0	2271	0	MUT	6	49427151	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	1647731	49427151	121687916	1328	79146											
PGK2	5232	broad.mit.edu	37	chr6	49754868	49754868	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcttccctctaacatccagTttgtctaaagtcaacttctt	9	15	4	13	1	4	0	1	0	3	0	6	0	6	0	2	0	2	2	2	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:49754868T>C	ENST00000304801.3	-	1	185	c.33A>G	c.(31-33)aaA>aaG	p.K11K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	11					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TAACATCCAGTTTGTCTAAAG	0.418													23	70					0	0	0	0	C	49754868	T	C	49754868	2	2	408	1	0	0	0	0	0	0	0	1	11863	1722	60	5		5	PGK2	6	49754868	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	327717	49754868	121360199	1329	79147											
TFAP2D	83741	broad.mit.edu	37	chr6	50712845	50712845	+	Frame_Shift_Del	DEL	T	T	-																															gctttgcacttggctcgggaTtttggctacacttgtgaaac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:50712845delT	ENST00000008391.3	+	6	1137	c.909delT	c.(907-909)gafs	p.D303fs	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	303	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGGCTCGGGATTTTGGCTACA	0.433													14	54	---	---	---	---					-	50712845	T	-	50712845	7	5	408	1	0	1	0	1	0	0	0	0	15884	1490	52	0	931	0	TFAP2D	6	50712845	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	957977	50712845	120402222	1330	79148											
TFAP2D	83741	broad.mit.edu	37	chr6	50740574	50740574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaacagaaaagacagaCtagctacatcaaacagaatc	21	4	7	9	0	1	4	1	0	0	4	2	4	1	4	0	1	4	2	0	1	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:50740574C>T	ENST00000008391.3	+	8	1584	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	452							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAAGACAGACTAGCTACATC	0.448													6	25					0	0	0	0	T	50740574	C	T	50740574	2	4	408	1	0	0	0	0	0	0	0	1	15884	564	20	4		4	TFAP2D	6	50740574	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	27729	50740574	120374493	1331	79149											
GCM1	8521	broad.mit.edu	37	chr6	52996817	52996817	+	Frame_Shift_Del	DEL	A	A	-																															aatccaacctggaaaaatatAaagcgtccgtcgtgcctcca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:52996817delA	ENST00000259803.7	-	4	640	c.429delT	c.(427-429)ttfs	p.F143fs		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	143						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGAAAAATATAAAGCGTCCGT	0.507													14	47	---	---	---	---					-	52996817	A	-	52996817	7	5	408	1	0	1	0	1	0	0	0	0	6346	359	13	0	893	0	GCM1	6	52996817	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	2256243	52996817	118118250	1332	79150											
BMP5	653	broad.mit.edu	37	chr6	55739318	55739318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccattgggagaggctgggtAtccctttcttgcccctctgg	4	12	12	13	0	2	1	0	0	2	1	3	2	3	1	4	4	1	2	4	4	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:55739318A>G	ENST00000370830.3	-	1	1044	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	BMP5_ENST00000446683.2_Missense_Mutation_p.Y116H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	116					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGGCTGGGTATCCCTTTCTT	0.522													9	132					0	0	0	0	G	55739318	A	G	55739318	3	3	408	1	0	0	0	0	1	0	0	0	1468	449	16	5	1046	5	BMP5	6	55739318	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2742501	55739318	115375749	1333	79151											
DST	667	broad.mit.edu	37	chr6	56362809	56362809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctgctttattaacggCttccactgtggactgatggg	7	15	10	9	1	0	1	0	1	0	0	2	2	2	2	2	3	2	2	2	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56362809C>T	ENST00000370754.5	-	81	19845	c.19846G>A	c.(19846-19848)Gcc>Acc	p.A6616T	DST_ENST00000446842.2_Missense_Mutation_p.A6112T|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A4350T|DST_ENST00000370788.2_Missense_Mutation_p.A4241T|DST_ENST00000244364.6_Missense_Mutation_p.A4024T|DST_ENST00000361203.3_Missense_Mutation_p.A6327T|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.A6438T			Q03001	DYST_HUMAN	dystonin	6436					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTATTAACGGCTTCCACTGTG	0.368													35	142					0	0	0	0	T	56362809	C	T	56362809	3	4	408	1	0	0	0	0	1	0	0	0	4819	797	28	4	3537	4	DST	6	56362809	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	623491	56362809	114752258	1334	79152											
DST	667	broad.mit.edu	37	chr6	56470188	56470188	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgaaactatcccttgtatTtttaccaggcaaaagtttga	12	15	6	8	0	0	2	0	2	0	0	1	2	1	2	2	1	2	3	2	1	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56470188T>C	ENST00000370754.5	-	39	9138	c.9139A>G	c.(9139-9141)Aat>Gat	p.N3047D	DST_ENST00000446842.2_Missense_Mutation_p.N2543D|DST_ENST00000312431.6_Missense_Mutation_p.N2869D|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.N2869D|DST_ENST00000370769.4_Missense_Mutation_p.N2869D			Q03001	DYST_HUMAN	dystonin	2869					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCCTTGTATTTTTACCAGGC	0.338													13	44					0	0	0	0	C	56470188	T	C	56470188	3	2	408	1	0	0	0	0	1	0	0	0	4819	1856	64	5		5	DST	6	56470188	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	107379	56470188	114644879	1335	79153											
DST	667	broad.mit.edu	37	chr6	56471259	56471259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattccctttctgatccagTttccagtgactgtccattca	7	15	6	13	0	2	2	1	2	1	0	6	2	6	2	4	0	0	2	4	0	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56471259T>C	ENST00000370754.5	-	39	8067	c.8068A>G	c.(8068-8070)Act>Gct	p.T2690A	DST_ENST00000446842.2_Missense_Mutation_p.T2186A|DST_ENST00000312431.6_Missense_Mutation_p.T2512A|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.T2512A|DST_ENST00000370769.4_Missense_Mutation_p.T2512A			Q03001	DYST_HUMAN	dystonin	2512					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGATCCAGTTTCCAGTGAC	0.378													12	45					0	0	0	0	C	56471259	T	C	56471259	3	2	408	1	0	0	0	0	1	0	0	0	4819	1740	60	5		5	DST	6	56471259	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1071	56471259	114643808	1336	79154											
DST	667	broad.mit.edu	37	chr6	56473886	56473886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattgtggtaggtgacgcaGcagaaataatctccttagct	12	11	11	7	1	1	2	0	1	1	1	2	3	1	2	1	2	2	4	1	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56473886G>A	ENST00000370754.5	-	39	5440	c.5441C>T	c.(5440-5442)gCt>gTt	p.A1814V	DST_ENST00000446842.2_Missense_Mutation_p.A1310V|DST_ENST00000312431.6_Missense_Mutation_p.A1636V|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.A1636V|DST_ENST00000370769.4_Missense_Mutation_p.A1636V			Q03001	DYST_HUMAN	dystonin	1636					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGACGCAGCAGAAATAAT	0.408													6	308					0	0	0	0	A	56473886	G	A	56473886	3	1	408	1	0	0	0	0	1	0	0	0	4819	986	34	4		4	DST	6	56473886	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2627	56473886	114641181	1337	79155											
DST	667	broad.mit.edu	37	chr6	56497784	56497784	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaatcttcaaaacgagAttgtagattacttagaactt	17	12	6	6	1	2	4	1	0	1	4	2	5	2	4	0	0	3	1	0	0	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56497784A>T	ENST00000370754.5	-	27	3573	c.3574T>A	c.(3574-3576)Tct>Act	p.S1192T	DST_ENST00000446842.2_Missense_Mutation_p.S688T|DST_ENST00000312431.6_Missense_Mutation_p.S1014T|DST_ENST00000421834.2_Missense_Mutation_p.S1014T|DST_ENST00000370788.2_Missense_Mutation_p.S1014T|DST_ENST00000518935.1_Missense_Mutation_p.S688T|DST_ENST00000370765.6_Missense_Mutation_p.S688T|DST_ENST00000244364.6_Missense_Mutation_p.S688T|DST_ENST00000361203.3_Missense_Mutation_p.S1014T|DST_ENST00000370769.4_Missense_Mutation_p.S1014T			Q03001	DYST_HUMAN	dystonin	1014					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAAACGAGATTGTAGATTA	0.358													12	54					0	0	0	0	T	56497784	A	T	56497784	3	4	408	1	0	0	0	0	1	0	0	0	4819	333	12	5	18377	5	DST	6	56497784	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	23898	56497784	114617283	1338	79156											
DST	667	broad.mit.edu	37	chr6	56765257	56765257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttgaacagagtgataaaAttctggctggactcggctgc	11	10	11	9	1	1	3	0	2	1	1	2	4	1	4	1	3	2	2	1	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56765257A>G	ENST00000370754.5	-	3	378	c.379T>C	c.(379-381)Ttt>Ctt	p.F127L				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTGATAAAATTCTGGCTGG	0.418													12	353					0	0	0	0	G	56765257	A	G	56765257	3	3	408	1	0	0	0	0	1	0	0	0	4819	116	4	5		5	DST	6	56765257	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	267473	56765257	114349810	1339	79157											
ZNF451	26036	broad.mit.edu	37	chr6	57012089	57012089	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatcagtcttactctattgCcacagcagcgaagggaacaa	14	8	9	10	1	3	0	1	0	2	0	3	3	3	1	1	1	5	1	1	1	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:57012089C>A	ENST00000370706.4	+	10	1450	c.1206C>A	c.(1204-1206)tgC>tgA	p.C402*	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.C402*|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.C402*|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TACTCTATTGCCACAGCAGCG	0.378													32	77					4.02929e-09	4.1631e-09	1	0	A	57012089	C	A	57012089	4	1	408	1	0	0	0	0	0	1	0	0	18017	747	26	4	1244	4	ZNF451	6	57012089	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	246832	57012089	114102978	1340	79158											
EYS	346007	broad.mit.edu	37	chr6	66094366	66094367	+	Frame_Shift_Ins	INS	-	-	T																															ggtcaattgctttctcacagINStttttttcagtaaatcctga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:66094366_66094367insT	ENST00000503581.1	-	8	1748_1749	c.1211_1212insA	c.(1210-1212)atgfs	p.M404fs	EYS_ENST00000393380.2_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370621.3_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.M404fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.M404fs	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	404	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTTCTCACAGTTTTTTTCAGT	0.282													14	37	---	---	---	---					T	66094367	-	T	66094366	7	5	408	1	0	1	1	0	0	0	0	0	5370	1020	36	0	8328	0	EYS	6	66094366	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	9082277	66094366	105020701	1341	79159											
BAI3	577	broad.mit.edu	37	chr6	70048869	70048869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagtgtggagtagtttcaAcaacagctttgtcagccacc	11	10	9	11	0	2	0	2	0	0	0	2	1	2	1	3	1	4	3	3	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:70048869A>G	ENST00000370598.1	+	25	4071	c.3250A>G	c.(3250-3252)Aca>Gca	p.T1084A	BAI3_ENST00000238918.8_Missense_Mutation_p.T290A|BAI3_ENST00000546190.1_Missense_Mutation_p.T48A	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1084					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGTAGTTTCAACAACAGCTTT	0.418													13	130					0	0	0	0	G	70048869	A	G	70048869	3	3	408	1	0	0	0	0	1	0	0	0	1304	43	2	5	3340	5	BAI3	6	70048869	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3954503	70048869	101066198	1342	79160											
BAI3	577	broad.mit.edu	37	chr6	70071052	70071052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaggggctgacatggacaTagtccatcctcaagaaagaa	15	6	12	8	0	1	4	1	1	0	3	3	6	3	5	2	3	0	1	2	3	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:70071052T>C	ENST00000370598.1	+	29	4708	c.3887T>C	c.(3886-3888)aTa>aCa	p.I1296T	BAI3_ENST00000238918.8_Missense_Mutation_p.I502T|BAI3_ENST00000546190.1_Missense_Mutation_p.I260T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1296					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GACATGGACATAGTCCATCCT	0.368													13	54					0	0	0	0	C	70071052	T	C	70071052	3	2	408	1	0	0	0	0	1	0	0	0	1304	1406	49	5	3993	5	BAI3	6	70071052	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	22183	70071052	101044015	1343	79161											
COL19A1	1310	broad.mit.edu	37	chr6	70639566	70639566	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggacagttattgctacgCgagcttcagatggcaagcct	10	9	12	10	3	1	1	1	0	0	1	1	4	1	2	1	2	4	4	1	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:70639566C>T	ENST00000322773.4	+	6	742	c.640C>T	c.(640-642)Cga>Tga	p.R214*		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	214	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TATTGCTACGCGAGCTTCAGA	0.363													30	91					0	0	0	0	T	70639566	C	T	70639566	4	4	408	1	0	0	0	0	0	1	0	0	3706	760	27	1	658	1	COL19A1	6	70639566	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	568514	70639566	100475501	1344	79162											
KCNQ5	56479	broad.mit.edu	37	chr6	73904329	73904329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaagccctgtggatagcaAagatctttcgggttccgcac	10	10	10	11	2	2	1	1	0	1	1	4	2	3	2	2	2	2	3	2	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:73904329A>G	ENST00000342056.2	+	15	2446	c.2048A>G	c.(2047-2049)aAa>aGa	p.K683R	KCNQ5_ENST00000402622.2_Missense_Mutation_p.K674R|KCNQ5_ENST00000403813.2_Missense_Mutation_p.K655R|KCNQ5_ENST00000414165.2_Missense_Mutation_p.K554R|KCNQ5_ENST00000370398.1_Missense_Mutation_p.K664R|KCNQ5_ENST00000355635.3_Missense_Mutation_p.K665R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.K664R	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	664					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTGGATAGCAAAGATCTTTCG	0.493													7	135					0	0	0	0	G	73904329	A	G	73904329	3	3	408	1	0	0	0	0	1	0	0	0	8139	14	1	5	2106	5	KCNQ5	6	73904329	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3264763	73904329	97210738	1345	79163											
FILIP1	27145	broad.mit.edu	37	chr6	76023544	76023544	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagccttatcctgctcagtTctaaatttctgttccagctg	7	17	6	11	0	3	0	1	0	2	0	5	0	5	0	3	0	3	4	3	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:76023544T>A	ENST00000393004.2	-	5	2225	c.2004A>T	c.(2002-2004)agA>agT	p.R668S	FILIP1_ENST00000237172.7_Missense_Mutation_p.R668S|FILIP1_ENST00000370020.1_Missense_Mutation_p.R569S|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	668										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGCTCAGTTCTAAATTTCT	0.423													6	320					0	0	0	0	A	76023544	T	A	76023544	3	1	408	1	0	0	0	0	1	0	0	0	5939	1780	62	5	1645	5	FILIP1	6	76023544	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2119215	76023544	95091523	1346	79164											
BCKDHB	594	broad.mit.edu	37	chr6	80838882	80838882	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatactgtttttcagtaatAtttggtgaagatgttgcctt	11	18	8	4	0	1	2	1	1	0	1	1	2	1	2	1	1	2	3	1	1	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:80838882A>T	ENST00000545529.1	+	3	307	c.279A>T	c.(277-279)atA>atT	p.I93I	BCKDHB_ENST00000356489.5_Silent_p.I93I|BCKDHB_ENST00000320393.6_Silent_p.I93I|BCKDHB_ENST00000369760.4_Silent_p.I93I|BCKDHB_ENST00000486968.1_3'UTR			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	93					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TTTCAGTAATATTTGGTGAAG	0.259													20	71					0	0	0	0	T	80838882	A	T	80838882	2	4	408	1	0	0	0	0	0	0	0	1	1364	439	16	5		5	BCKDHB	6	80838882	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4815338	80838882	90276185	1347	79165											
FAM46A	55603	broad.mit.edu	37	chr6	82459576	82459576	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgacattttggtcagctaAcacccggatagccagcatgg	12	9	10	10	1	1	1	1	1	0	0	1	2	1	2	2	3	4	2	2	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:82459576A>G	ENST00000369754.3	-	3	1534	c.1222T>C	c.(1222-1224)Tta>Cta	p.L408L	FAM46A_ENST00000320172.6_Silent_p.L389L|FAM46A_ENST00000369756.3_Silent_p.L470L			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	389										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGGTCAGCTAACACCCGGATA	0.453													38	82					0	0	0	0	G	82459576	A	G	82459576	2	3	408	1	0	0	0	0	0	0	0	1	5612	40	2	5		5	FAM46A	6	82459576	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1620694	82459576	88655491	1348	79166											
DOPEY1	23033	broad.mit.edu	37	chr6	83810446	83810446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacaaaataatgcaaagtAccaagtagtacccaaaaagc	20	8	5	8	0	0	0	0	0	0	0	0	0	0	0	2	0	5	4	2	0	11	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:83810446A>G	ENST00000349129.2	+	4	421	c.161A>G	c.(160-162)tAc>tGc	p.Y54C	DOPEY1_ENST00000237163.5_Missense_Mutation_p.Y54C|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Y54C|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Y54C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	54					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AATGCAAAGTACCAAGTAGTA	0.358													45	151					0	0	0	0	G	83810446	A	G	83810446	3	3	408	1	0	0	0	0	1	0	0	0	4743	391	14	5	167	5	DOPEY1	6	83810446	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1350870	83810446	87304621	1349	79167											
NT5E	4907	broad.mit.edu	37	chr6	86176945	86176945	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcttcctgttggtgatgaAgttgtgggaatcgttggata	7	16	14	4	1	1	2	0	2	1	0	3	4	2	4	1	3	0	4	1	3	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:86176945A>G	ENST00000257770.3	+	2	556	c.507A>G	c.(505-507)gaA>gaG	p.E169E	NT5E_ENST00000369646.3_Silent_p.E169E|NT5E_ENST00000369651.3_Silent_p.E169E	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	169					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TTGGTGATGAAGTTGTGGGAA	0.378													4	56					0	0	0	0	G	86176945	A	G	86176945	2	3	408	1	0	0	0	0	0	0	0	1	10764	69	3	5		5	NT5E	6	86176945	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2366499	86176945	84938122	1350	79168											
ZNF292	23036	broad.mit.edu	37	chr6	87967022	87967022	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataaaaatgaacaaggtggTatgttatgttcccaaatgga	16	11	10	4	0	0	1	0	1	0	0	1	3	1	2	1	3	1	3	1	3	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:87967022T>C	ENST00000369577.3	+	8	3718	c.3675T>C	c.(3673-3675)ggT>ggC	p.G1225G	ZNF292_ENST00000339907.4_Silent_p.G1220G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACAAGGTGGTATGTTATGTT	0.378													8	26					0	0	0	0	C	87967022	T	C	87967022	2	2	408	1	0	0	0	0	0	0	0	1	17921	1625	57	5		5	ZNF292	6	87967022	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1790077	87967022	83148045	1351	79169											
C6orf165	154313	broad.mit.edu	37	chr6	88138459	88138459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttgggtgctcacgaacTatactttcctgagagagtga	10	13	10	8	1	2	3	1	2	1	1	3	5	3	3	1	1	3	1	1	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:88138459T>C	ENST00000507897.1	+	9	1159	c.1076T>C	c.(1075-1077)cTa>cCa	p.L359P	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L359P			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	359										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCTCACGAACTATACTTTCCT	0.413													5	129					0	0	0	0	C	88138459	T	C	88138459	3	2	408	1	0	0	0	0	1	0	0	0	2362	1522	53	5	1106	5	C6orf165	6	88138459	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	171437	88138459	82976608	1352	79170											
RNGTT	8732	broad.mit.edu	37	chr6	89554217	89554217	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgcagacgaacattaaaAtcacaatctccaacgggctg	15	7	7	12	2	2	1	1	0	1	1	3	2	2	1	1	1	3	2	1	1	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:89554217A>G	ENST00000369485.4	-	11	1314	c.1128T>C	c.(1126-1128)gaT>gaC	p.D376D	RNGTT_ENST00000265607.6_Silent_p.D376D|RNGTT_ENST00000538899.1_Silent_p.D316D|RNGTT_ENST00000369475.3_Silent_p.D376D	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	376	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		GAACATTAAAATCACAATCTC	0.353													37	83					0	0	0	0	G	89554217	A	G	89554217	2	3	408	1	0	0	0	0	0	0	0	1	13588	98	4	5		5	RNGTT	6	89554217	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1415758	89554217	81560850	1353	79171											
PNRC1	10957	broad.mit.edu	37	chr6	89793537	89793537	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggccagcttgttcatggTatacacttgtatgagcaacc	10	12	9	10	0	1	1	1	1	0	0	1	1	1	1	2	2	4	5	2	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:89793537T>C	ENST00000336032.3	+	2	723	c.606T>C	c.(604-606)ggT>ggC	p.G202G	PNRC1_ENST00000354922.3_Silent_p.G17G|PNRC1_ENST00000369472.1_Silent_p.G17G	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		TTGTTCATGGTATACACTTGT	0.348										Multiple Myeloma(7;0.094)			10	42					0	0	0	0	C	89793537	T	C	89793537	2	2	408	1	0	0	0	0	0	0	0	1	12246	1625	57	5		5	PNRC1	6	89793537	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	239320	89793537	81321530	1354	79172											
MDN1	23195	broad.mit.edu	37	chr6	90432762	90432762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacacccaggggactggtcaAccagcatcaactgacaccag	14	4	9	14	0	2	1	2	1	0	0	2	2	2	2	3	3	4	1	3	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:90432762A>G	ENST00000369393.3	-	40	5994	c.5879T>C	c.(5878-5880)gTt>gCt	p.V1960A	MDN1_ENST00000428876.1_Missense_Mutation_p.V1960A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1960					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGACTGGTCAACCAGCATCAA	0.473													6	276					0	0	0	0	G	90432762	A	G	90432762	3	3	408	1	0	0	0	0	1	0	0	0	9484	43	2	5	11163	5	MDN1	6	90432762	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	639225	90432762	80682305	1355	79173											
MDN1	23195	broad.mit.edu	37	chr6	90482396	90482396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacactgcaagctgctcgAtgagaacagaggacggccgt	12	5	12	12	3	0	2	0	1	0	2	1	5	0	3	1	2	4	3	1	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:90482396A>G	ENST00000369393.3	-	14	2094	c.1979T>C	c.(1978-1980)aTc>aCc	p.I660T	MDN1_ENST00000428876.1_Missense_Mutation_p.I660T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	660			I -> V (in dbSNP:rs12110451).		protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGCTGCTCGATGAGAACAGA	0.507													27	126					0	0	0	0	G	90482396	A	G	90482396	3	3	408	1	0	0	0	0	1	0	0	0	9484	333	12	5	15167	5	MDN1	6	90482396	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	49634	90482396	80632671	1356	79174											
BACH2	60468	broad.mit.edu	37	chr6	90661409	90661409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttccggcacacaaacaggCcatcctcactgttcaggagc	10	7	8	16	1	2	0	2	0	0	0	4	1	4	1	4	3	2	2	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:90661409C>T	ENST00000257749.4	-	7	1123	c.416G>A	c.(415-417)gGc>gAc	p.G139D	BACH2_ENST00000343122.3_Missense_Mutation_p.G139D|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.G139D	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	139						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CACAAACAGGCCATCCTCACT	0.597													16	77					0	0	0	0	T	90661409	C	T	90661409	3	4	408	1	0	0	0	0	1	0	0	0	1288	739	26	4	2121	4	BACH2	6	90661409	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	179013	90661409	80453658	1357	79175											
EPHA7	2045	broad.mit.edu	37	chr6	93979297	93979297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccgaatctggaaaacatAcactgttcctggtttcagat	12	11	8	10	1	2	1	1	0	1	1	3	3	3	2	2	2	3	2	2	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:93979297A>G	ENST00000369303.4	-	7	1715	c.1531T>C	c.(1531-1533)Tat>Cat	p.Y511H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	511	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGGAAAACATACACTGTTCCT	0.398													7	134					0	0	0	0	G	93979297	A	G	93979297	3	3	408	1	0	0	0	0	1	0	0	0	5210	391	14	5	1509	5	EPHA7	6	93979297	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3317888	93979297	77135770	1358	79176											
GPR63	81491	broad.mit.edu	37	chr6	97246427	97246427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgaccagggagctgcGgcaaaaacttgaaggactta	12	9	13	7	1	0	2	0	2	0	0	0	4	0	4	1	3	3	2	1	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:97246427G>T	ENST00000229955.3	-	2	1526	c.1181C>A	c.(1180-1182)cCg>cAg	p.P394Q	GPR63_ENST00000417980.1_Missense_Mutation_p.P394Q	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	394						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGGAGCTGCGGCAAAAACTT	0.483													24	80					4.72057e-08	4.86287e-08	1	0	T	97246427	G	T	97246427	3	4	408	1	0	0	0	0	1	0	0	0	6753	1116	39	3	82	3	GPR63	6	97246427	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3267130	97246427	73868640	1359	79177											
FBXL4	26235	broad.mit.edu	37	chr6	99353378	99353378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactggacaagagtgcagcGagactgtagaaattccagag	14	6	12	9	1	0	4	0	0	0	4	1	6	1	5	2	1	2	2	2	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:99353378G>A	ENST00000369244.2	-	6	1455	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	FBXL4_ENST00000229971.1_Missense_Mutation_p.R343C			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	343					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AGAGTGCAGCGAGACTGTAGA	0.448													40	114					0	0	0	0	A	99353378	G	A	99353378	3	1	408	1	0	0	0	0	1	0	0	0	5766	1058	37	1	858	1	FBXL4	6	99353378	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2106951	99353378	71761689	1360	79178											
PRDM13	59336	broad.mit.edu	37	chr6	100062519	100062519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgacggcccgggtgccgagCccggctatcccccggagcct	4	4	15	18	6	0	0	0	0	0	0	1	3	1	1	6	4	3	1	6	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:100062519C>T	ENST00000369214.1	+	4	2299	c.2038C>T	c.(2038-2040)Ccc>Tcc	p.P680S	PRDM13_ENST00000369215.4_Missense_Mutation_p.P670S	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGTGCCGAGCCCGGCTATCC	0.697													18	55					0	0	0	0	T	100062519	C	T	100062519	3	4	408	1	0	0	0	0	1	0	0	0	12534	739	26	4	2022	4	PRDM13	6	100062519	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	709141	100062519	71052548	1361	79179											
SIM1	6492	broad.mit.edu	37	chr6	100838718	100838718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggctgttggtagtttGcaaaacacagggagtgtttt	8	13	16	4	0	0	0	0	0	0	0	0	1	0	1	0	4	2	6	0	4	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:100838718G>A	ENST00000369208.3	-	12	2602	c.1820C>T	c.(1819-1821)gCa>gTa	p.A607V	SIM1_ENST00000262901.4_Missense_Mutation_p.A607V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	607	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGGTAGTTTGCAAAACACAG	0.478													5	101					0	0	0	0	A	100838718	G	A	100838718	3	1	408	1	0	0	0	0	1	0	0	0	14411	1319	46	4	484	4	SIM1	6	100838718	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	776199	100838718	70276349	1362	79180											
GRIK2	2898	broad.mit.edu	37	chr6	102074490	102074490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagtggaaaaccgtcacGgttgtgtatgatgacagcac	12	10	11	8	2	2	2	2	2	0	0	2	3	2	3	1	2	2	3	1	2	4	3	rs147153195		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:102074490G>A	ENST00000369138.1	+	3	1009	c.519G>A	c.(517-519)acG>acA	p.T173T	GRIK2_ENST00000318991.6_Silent_p.T173T|GRIK2_ENST00000358361.3_Silent_p.T173T|GRIK2_ENST00000413795.1_Silent_p.T173T|GRIK2_ENST00000369134.4_Silent_p.T124T|GRIK2_ENST00000369137.3_Silent_p.T173T|GRIK2_ENST00000421544.1_Silent_p.T173T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	173					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAACCGTCACGGTTGTGTATG	0.398													13	59					0	0	0	0	A	102074490	G	A	102074490	2	1	408	1	0	0	0	0	0	0	0	1	6824	1103	39	1		1	GRIK2	6	102074490	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1235772	102074490	69040577	1363	79181											
GRIK2	2898	broad.mit.edu	37	chr6	102503397	102503397	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccggcttggtgctttcagTttttgtggcagtgggagaat	6	14	15	6	1	1	1	1	0	0	1	1	2	1	1	1	4	2	4	1	4	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:102503397T>C	ENST00000369138.1	+	15	2994	c.2504T>C	c.(2503-2505)gTt>gCt	p.V835A	GRIK2_ENST00000318991.6_Missense_Mutation_p.V835A|GRIK2_ENST00000413795.1_Missense_Mutation_p.V835A|GRIK2_ENST00000369134.4_Missense_Mutation_p.V786A|GRIK2_ENST00000369137.3_Missense_Mutation_p.V759A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V835A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	835					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTGCTTTCAGTTTTTGTGGCA	0.403													39	122					0	0	0	0	C	102503397	T	C	102503397	3	2	408	1	0	0	0	0	1	0	0	0	6824	1725	60	5	2562	5	GRIK2	6	102503397	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	428907	102503397	68611670	1364	79182											
RTN4IP1	84816	broad.mit.edu	37	chr6	107040176	107040176	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcccatgctttcattacCtgccccccaccaaaaagaaa	13	8	4	16	0	1	1	1	0	0	1	2	1	2	1	6	0	3	2	6	0	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:107040176C>A	ENST00000369063.3	-	6	1135		c.e6-1		RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1							mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CTTTCATTACCTGCCCCCCAC	0.383													14	36					1.49906e-05	1.53131e-05	1	0	A	107040176	C	A	107040176	5	1	408	1	0	0	0	0	0	0	1	0	13814	695	24	4	537	4	RTN4IP1	6	107040176	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4536779	107040176	64074891	1365	79183											
QRSL1	55278	broad.mit.edu	37	chr6	107090875	107090875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatttttttcaggttataTaccaccttataatgctacag	13	17	4	7	0	1	0	1	0	0	0	1	0	1	0	2	1	3	2	2	1	8	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:107090875T>C	ENST00000369046.4	+	4	394	c.290T>C	c.(289-291)aTa>aCa	p.I97T	QRSL1_ENST00000369044.1_Missense_Mutation_p.I97T	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	97					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TCAGGTTATATACCACCTTAT	0.318													13	42					0	0	0	0	C	107090875	T	C	107090875	3	2	408	1	0	0	0	0	1	0	0	0	12963	1406	49	5	304	5	QRSL1	6	107090875	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	50699	107090875	64024192	1366	79184											
NR2E1	7101	broad.mit.edu	37	chr6	108496088	108496088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaccagtgcagggcgtgtCggctgaagaagtgtttggaa	11	8	16	6	2	0	2	0	1	0	1	1	4	0	3	1	3	2	3	1	3	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:108496088C>T	ENST00000368986.4	+	3	928	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	NR2E1_ENST00000368983.3_Missense_Mutation_p.R111W	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	74					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CAGGGCGTGTCGGCTGAAGAA	0.498													23	37					0	0	0	0	T	108496088	C	T	108496088	3	4	408	1	0	0	0	0	1	0	0	0	10696	875	31	1	230	1	NR2E1	6	108496088	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1405213	108496088	62618979	1367	79185											
ZBTB24	9841	broad.mit.edu	37	chr6	109787184	109787184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctaaatggagctcctctGtttgctcttgatgggcatga	8	14	11	8	0	2	2	0	2	2	0	3	3	3	3	1	2	3	5	1	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:109787184G>A	ENST00000230122.3	-	7	2131	c.1964C>T	c.(1963-1965)aCa>aTa	p.T655I		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GAGCTCCTCTGTTTGCTCTTG	0.542													21	71					0	0	0	0	A	109787184	G	A	109787184	3	1	408	1	0	0	0	0	1	0	0	0	17626	1377	48	4	133	4	ZBTB24	6	109787184	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1291096	109787184	61327883	1368	79186											
DDO	8528	broad.mit.edu	37	chr6	110734649	110734649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctgccccgacaactgcaAtccgtgctgtgtccatgagc	8	8	9	16	2	0	1	0	1	0	0	2	2	2	1	5	0	5	2	5	0	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:110734649A>G	ENST00000368924.3	-	2	116	c.101T>C	c.(100-102)aTt>aCt	p.I34T	DDO_ENST00000368925.1_Missense_Mutation_p.I6T|DDO_ENST00000368923.3_Missense_Mutation_p.I34T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	6					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GACAACTGCAATCCGTGCTGT	0.507													55	155					0	0	0	0	G	110734649	A	G	110734649	3	3	408	1	0	0	0	0	1	0	0	0	4366	101	4	5	1024	5	DDO	6	110734649	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	947465	110734649	60380418	1369	79187											
RPF2	84154	broad.mit.edu	37	chr6	111306297	111306297	+	Frame_Shift_Del	DEL	G	G	-																															aaaatgccatgctgattaaaGggggaaatgcaaatgcaaca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:111306297delG	ENST00000441448.2	+	2	204	c.112delG	c.(112-114)ggfs	p.G39fs		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	39	Brix.					nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GCTGATTAAAGGGGGAAATGC	0.328													26	219	---	---	---	---					-	111306297	G	-	111306297	7	5	408	1	0	1	0	1	0	0	0	0	13632	1000	35	0	118	0	RPF2	6	111306297	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	571648	111306297	59808770	1370	79188											
REV3L	5980	broad.mit.edu	37	chr6	111631164	111631164	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtaagtagcattcagtctCagagttgggtcctgcaggac	10	11	12	8	0	2	1	2	0	1	1	4	2	3	2	1	2	2	5	1	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:111631164C>G	ENST00000435970.1	-	32	9516	c.8700G>C	c.(8698-8700)ctG>ctC	p.L2900L	REV3L_ENST00000368805.1_Silent_p.L2978L|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000358835.3_Silent_p.L2978L|REV3L_ENST00000368802.3_Silent_p.L2978L|REV3L_ENST00000462119.1_5'UTR			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2978					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATTCAGTCTCAGAGTTGGGT	0.473								DNA polymerases (catalytic subunits)					28	84					0	0	0	0	G	111631164	C	G	111631164	2	3	408	1	0	0	0	0	0	0	0	1	13322	813	29	2		2	REV3L	6	111631164	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	324867	111631164	59483903	1371	79189											
FYN	2534	broad.mit.edu	37	chr6	112024217	112024217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcatatcatcccaatcacGgatagaaagtgaataggcac	15	10	7	9	1	3	2	3	1	0	1	4	3	4	3	1	2	0	1	1	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:112024217G>A	ENST00000354650.3	-	8	1174	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	FYN_ENST00000538466.1_Missense_Mutation_p.R190C|FYN_ENST00000368682.3_Missense_Mutation_p.R190C|FYN_ENST00000356013.2_Missense_Mutation_p.R190C|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Missense_Mutation_p.R190C|FYN_ENST00000229470.5_Missense_Mutation_p.R141C|FYN_ENST00000368678.4_Missense_Mutation_p.R190C|FYN_ENST00000229471.4_Missense_Mutation_p.R190C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	190	SH2.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCCCAATCACGGATAGAAAGT	0.413													19	64					0	0	0	0	A	112024217	G	A	112024217	3	1	408	1	0	0	0	0	1	0	0	0	6174	1116	39	1	1233	1	FYN	6	112024217	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	393053	112024217	59090850	1372	79190											
HDAC2	3066	broad.mit.edu	37	chr6	114270368	114270368	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatatgactcatcatctatAccatctctcattggaaaatt	13	14	3	11	0	5	1	3	1	2	0	6	2	5	2	2	1	1	0	2	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:114270368A>T	ENST00000519065.1	-	7	1072	c.696T>A	c.(694-696)ggT>ggA	p.G232G	HDAC2_ENST00000368632.2_Silent_p.G202G|HDAC2_ENST00000519108.1_Silent_p.G202G|HDAC2_ENST00000398283.2_Silent_p.G326G			Q92769	HDAC2_HUMAN	histone deacetylase 2	232	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CATCATCTATACCATCTCTCA	0.303													23	46					0	0	0	0	T	114270368	A	T	114270368	2	4	408	1	0	0	0	0	0	0	0	1	7057	378	14	5		5	HDAC2	6	114270368	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2246151	114270368	56844699	1373	79191											
RSPH4A	345895	broad.mit.edu	37	chr6	116948931	116948931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacccaatccaaagatgccGcttctggggaaagatcttgg	11	8	10	12	1	2	2	0	0	2	2	3	3	3	3	4	3	1	1	4	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:116948931G>A	ENST00000229554.5	+	3	1198	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R354H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	354					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAAAGATGCCGCTTCTGGGGA	0.448									Kartagener syndrome				15	114					0	0	0	0	A	116948931	G	A	116948931	3	1	408	1	0	0	0	0	1	0	0	0	13791	1087	38	1	1071	1	RSPH4A	6	116948931	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2678563	116948931	54166136	1374	79192											
CLVS2	134829	broad.mit.edu	37	chr6	123318930	123318930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggcagaacaatgactcAtttgcaagccggtctctccc	11	9	9	12	1	2	2	1	1	1	1	4	3	3	2	2	2	3	2	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:123318930A>G	ENST00000275162.4	+	2	1343	c.8A>G	c.(7-9)cAt>cGt	p.H3R	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	3					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACAATGACTCATTTGCAAGCC	0.557													21	62					0	0	0	0	G	123318930	A	G	123318930	3	3	408	1	0	0	0	0	1	0	0	0	3602	217	8	5	10	5	CLVS2	6	123318930	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6369999	123318930	47796137	1375	79193											
HEY2	23493	broad.mit.edu	37	chr6	126080822	126080822	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaaacgcagcagcagcAgtggccgcggccacagccat	10	2	11	18	3	0	0	0	0	0	0	0	0	0	0	5	2	5	4	5	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:126080822A>G	ENST00000368364.3	+	5	1085	c.888A>G	c.(886-888)gcA>gcG	p.A296A	HEY2_ENST00000368365.1_Silent_p.A250A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	296	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCAGCAGCAGTGGCCGCGG	0.642													14	239					0	0	0	0	G	126080822	A	G	126080822	2	3	408	1	0	0	0	0	0	0	0	1	7129	175	7	5		5	HEY2	6	126080822	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2761892	126080822	45034245	1376	79194											
NCOA7	135112	broad.mit.edu	37	chr6	126199426	126199426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taggctggaaaccaggacacCctaaactccatagcactgaa	15	6	8	12	0	0	1	0	1	0	0	1	3	1	3	3	3	3	2	3	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:126199426C>T	ENST00000368357.3	+	6	721	c.369C>T	c.(367-369)acC>acT	p.T123T	NCOA7_ENST00000392477.2_Silent_p.T123T|NCOA7_ENST00000229634.9_Silent_p.T19T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	123					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACCAGGACACCCTAAACTCCA	0.318													11	29					0	0	0	0	T	126199426	C	T	126199426	2	4	408	1	0	0	0	0	0	0	0	1	10304	610	22	4		4	NCOA7	6	126199426	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	118604	126199426	44915641	1377	79195											
KIAA0408	9729	broad.mit.edu	37	chr6	127765263	127765263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccaaagacttaaaccatCaatgcttcggatcgcagaga	15	7	9	10	2	1	2	1	0	0	2	3	4	1	3	2	2	2	2	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:127765263C>G	ENST00000483725.3	-	6	2412	c.2076G>C	c.(2074-2076)ttG>ttC	p.L692F	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	692							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTTAAACCATCAATGCTTCGG	0.493													14	44					0	0	0	0	G	127765263	C	G	127765263	3	3	408	1	0	0	0	0	1	0	0	0	8225	825	29	2	12	2	KIAA0408	6	127765263	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1565837	127765263	43349804	1378	79196											
THEMIS	387357	broad.mit.edu	37	chr6	128150963	128150963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaggttctctagttttaTatccttctgatgatagaagc	10	16	9	6	0	2	4	0	3	2	1	4	5	3	4	1	1	1	2	1	1	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:128150963T>C	ENST00000368250.1	-	4	628	c.130A>G	c.(130-132)Ata>Gta	p.I44V	THEMIS_ENST00000368248.2_Missense_Mutation_p.I123V|THEMIS_ENST00000543064.1_Missense_Mutation_p.I123V|THEMIS_ENST00000537166.1_Missense_Mutation_p.I88V			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	123	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTAGTTTTATATCCTTCTGA	0.408													15	57					0	0	0	0	C	128150963	T	C	128150963	3	2	408	1	0	0	0	0	1	0	0	0	15954	1406	49	5	1695	5	THEMIS	6	128150963	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	385700	128150963	42964104	1379	79197											
PTPRK	5796	broad.mit.edu	37	chr6	128411046	128411046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattaaaagtgtggcaacgCgtaatgttgtaacccaagga	15	9	10	7	2	0	0	0	0	0	0	0	1	0	1	1	2	2	4	1	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:128411046C>T	ENST00000368227.3	-	8	1620	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	PTPRK_ENST00000368226.4_Silent_p.T418T|PTPRK_ENST00000532331.1_Silent_p.T418T|PTPRK_ENST00000368215.3_Silent_p.T418T|PTPRK_ENST00000368207.3_Silent_p.T418T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Silent_p.T418T|PTPRK_ENST00000368213.5_Silent_p.T418T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	418	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGGCAACGCGTAATGTTGT	0.463													19	74					0	0	0	0	T	128411046	C	T	128411046	2	4	408	1	0	0	0	0	0	0	0	1	12887	755	27	1		1	PTPRK	6	128411046	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	260083	128411046	42704021	1380	79198											
ENPP3	5169	broad.mit.edu	37	chr6	132068068	132068068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttgcaactaaagacatAtttaccaacatttgaaacca	18	12	3	8	0	0	2	0	1	0	1	0	2	0	2	2	0	5	1	2	0	8	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:132068068A>G	ENST00000414305.1	+	26	2928	c.2600A>G	c.(2599-2601)tAt>tGt	p.Y867C	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.Y867C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	867	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTAAAGACATATTTACCAACA	0.328													12	38					0	0	0	0	G	132068068	A	G	132068068	3	3	408	1	0	0	0	0	1	0	0	0	5169	449	16	5	2698	5	ENPP3	6	132068068	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3657022	132068068	39046999	1381	79199											
SLC2A12	154091	broad.mit.edu	37	chr6	134350163	134350163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttttgaacgaaacagaTcccaaaaactgtactgatat	15	12	6	8	1	1	3	0	2	1	1	2	4	2	3	1	0	4	1	1	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:134350163T>C	ENST00000275230.5	-	2	955	c.800A>G	c.(799-801)gAt>gGt	p.D267G		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	267						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ACGAAACAGATCCCAAAAACT	0.388													4	89					0	0	0	0	C	134350163	T	C	134350163	3	2	408	1	0	0	0	0	1	0	0	0	14629	1435	50	5	1069	5	SLC2A12	6	134350163	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2282095	134350163	36764904	1382	79200											
SLC35D3	340146	broad.mit.edu	37	chr6	137245154	137245154	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggccgctcaccgcgcagTacgtcatcgccgtctctgcc	5	7	11	18	7	3	0	2	0	1	0	5	0	3	0	4	1	2	3	4	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:137245154T>C	ENST00000331858.4	+	2	736	c.571T>C	c.(571-573)Tac>Cac	p.Y191H		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	191					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CACCGCGCAGTACGTCATCGC	0.682													3	23					0	0	0	0	C	137245154	T	C	137245154	3	2	408	1	0	0	0	0	1	0	0	0	14671	1638	57	5	577	5	SLC35D3	6	137245154	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2894991	137245154	33869913	1383	79201											
IL20RA	53832	broad.mit.edu	37	chr6	137338204	137338204	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggataagaaggtgatgTttgcaggtttaggcaaacca	13	11	13	4	0	0	3	0	2	0	1	0	4	0	4	1	4	2	4	1	4	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:137338204T>C	ENST00000316649.5	-	2	360	c.125A>G	c.(124-126)aAc>aGc	p.N42S	IL20RA_ENST00000367746.3_Missense_Mutation_p.N42S|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_5'UTR|IL20RA_ENST00000367748.1_5'UTR	NM_014432.2	NP_055247.2	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	42	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GAAGGTGATGTTTGCAGGTTT	0.418													3	59					0	0	0	0	C	137338204	T	C	137338204	3	2	408	1	0	0	0	0	1	0	0	0	7721	1725	60	5	1560	5	IL20RA	6	137338204	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	93050	137338204	33776863	1384	79202											
IL22RA2	116379	broad.mit.edu	37	chr6	137466909	137466909	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcataaaccttttgcTcctacacacgagagagaaaa	14	9	5	13	1	1	2	1	0	0	2	2	4	2	2	4	0	3	1	4	0	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:137466909T>C	ENST00000296980.2	-	7	944	c.642_splice	c.e7-1	p.E215_splice	IL22RA2_ENST00000349184.4_Splice_Site_p.E183_splice|IL22RA2_ENST00000339602.3_Splice_Site_p.R126_splice	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	215	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		AACCTTTTGCTCCTACACACG	0.413													13	34					0	0	0	0	C	137466909	T	C	137466909	5	2	408	1	0	0	0	0	0	0	1	0	7727	1565	54	5	151	5	IL22RA2	6	137466909	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	128705	137466909	33648158	1385	79203											
TNFAIP3	7128	broad.mit.edu	37	chr6	138196092	138196092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaaggaaacagacacaCgcaactttaaattccgctgg	14	7	8	12	3	1	1	1	0	0	1	2	2	2	2	1	2	2	3	1	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:138196092C>T	ENST00000237289.4	+	3	472	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	136	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.R136fs*3(2)|p.R136fs*4(1)|p.W113_F140del(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AACAGACACACGCAACTTTAA	0.488			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								28	106					0	0	0	0	T	138196092	C	T	138196092	3	4	408	1	0	0	0	0	1	0	0	0	16368	536	19	1	412	1	TNFAIP3	6	138196092	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	729183	138196092	32918975	1386	79204											
TNFAIP3	7128	broad.mit.edu	37	chr6	138199945	138199945	+	Frame_Shift_Del	DEL	G	G	-																															ggaaccctgaggagtccactGgggggcctcattcggcccca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:138199945delG	ENST00000237289.4	+	7	1429	c.1363delG	c.(1363-1365)ggfs	p.G456fs		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	456	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.P450fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGTCCACTGGGGGGCCTCA	0.657			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								15	75	---	---	---	---					-	138199945	G	-	138199945	7	5	408	1	0	1	0	1	0	0	0	0	16368	1348	47	0	1385	0	TNFAIP3	6	138199945	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	3853	138199945	32915122	1387	79205											
TNFAIP3	7128	broad.mit.edu	37	chr6	138200106	138200106	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaacttcacgccagccaCgccccagaccacacaaggca	12	2	8	19	3	1	1	1	0	0	1	1	1	1	1	5	2	2	2	5	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:138200106C>T	ENST00000237289.4	+	7	1590	c.1524C>T	c.(1522-1524)caC>caT	p.H508H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	508	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.A506fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACGCCAGCCACGCCCCAGACC	0.562			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								23	55					0	0	0	0	T	138200106	C	T	138200106	2	4	408	1	0	0	0	0	0	0	0	1	16368	535	19	1		1	TNFAIP3	6	138200106	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	161	138200106	32914961	1388	79206											
KIAA1244	57221	broad.mit.edu	37	chr6	138584602	138584602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgccgccctgtctctaaAactgctgaagaaccaggagg	12	7	10	12	1	1	2	0	1	1	1	2	3	1	3	3	2	5	1	3	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:138584602A>G	ENST00000251691.4	+	12	2148	c.1982A>G	c.(1981-1983)aAa>aGa	p.K661R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	661	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGTCTCTAAAACTGCTGAAG	0.592													20	80					0	0	0	0	G	138584602	A	G	138584602	3	3	408	1	0	0	0	0	1	0	0	0	8268	14	1	5	2028	5	KIAA1244	6	138584602	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	384496	138584602	32530465	1389	79207											
ECT2L	345930	broad.mit.edu	37	chr6	139222228	139222228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagtggcccttcatcggtTactcatagaaaatattccag	12	12	7	10	1	3	1	3	0	0	1	5	1	4	1	2	2	1	1	2	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:139222228T>C	ENST00000423192.1	+	20	2719	c.2558T>C	c.(2557-2559)tTa>tCa	p.L853S	ECT2L_ENST00000367682.2_Missense_Mutation_p.L853S|ECT2L_ENST00000541398.1_Missense_Mutation_p.L707S			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	853					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTTCATCGGTTACTCATAGAA	0.403			"N, Splice, Mis"		ETP ALL								6	121					0	0	0	0	C	139222228	T	C	139222228	3	2	408	1	0	0	0	0	1	0	0	0	4938	1764	61	5	2632	5	ECT2L	6	139222228	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	637626	139222228	31892839	1390	79208											
PEX3	8504	broad.mit.edu	37	chr6	143795986	143795986	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatgaaactagagacatgTtggaaaggtatgtatacttc	15	12	9	5	0	1	2	1	1	0	1	2	4	1	3	0	2	2	3	0	2	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:143795986T>C	ENST00000367591.4	+	9	874	c.811T>C	c.(811-813)Ttg>Ctg	p.L271L		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	271					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TAGAGACATGTTGGAAAGGTA	0.338													5	104					0	0	0	0	C	143795986	T	C	143795986	2	2	408	1	0	0	0	0	0	0	0	1	11819	1722	60	5		5	PEX3	6	143795986	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4573758	143795986	27319081	1391	79209											
PHACTR2	9749	broad.mit.edu	37	chr6	144093396	144093396	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttttctgcctttaacagtTtcacaaccaaagaggagctg	11	12	8	10	0	2	1	1	0	1	1	2	2	2	2	2	1	4	3	2	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:144093396T>C	ENST00000427704.2	+	7	1331	c.1199_splice	c.e7-1	p.F401_splice	PHACTR2_ENST00000305766.6_Splice_Site_p.F321_splice|PHACTR2_ENST00000367584.4_Splice_Site_p.F389_splice|PHACTR2_ENST00000440869.2_Splice_Site_p.F412_splice|PHACTR2_ENST00000367582.3_Splice_Site_p.F332_splice	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	401							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTTTAACAGTTTCACAACCAA	0.493													10	75					0	0	0	0	C	144093396	T	C	144093396	5	2	408	1	0	0	0	0	0	0	1	0	11882	1855	64	5	1277	5	PHACTR2	6	144093396	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	297410	144093396	27021671	1392	79210											
UTRN	7402	broad.mit.edu	37	chr6	144747450	144747450	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatgaaggatgtcatgTcggacctgcagcagacgaac	12	8	12	9	2	2	2	2	1	0	1	3	5	2	4	1	2	3	2	1	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:144747450T>C	ENST00000367545.3	+	6	433	c.433T>C	c.(433-435)Tcg>Ccg	p.S145P		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	145	Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGATGTCATGTCGGACCTGCA	0.478													24	80					0	0	0	0	C	144747450	T	C	144747450	3	2	408	1	0	0	0	0	1	0	0	0	17199	1667	58	5	455	5	UTRN	6	144747450	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	654054	144747450	26367617	1393	79211											
UTRN	7402	broad.mit.edu	37	chr6	144780131	144780131	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagtccttgccaagctTgaaggattcctgtcaggtaa	9	10	11	11	1	1	1	1	1	0	0	3	2	3	2	4	3	2	3	4	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:144780131T>A	ENST00000367545.3	+	19	2510	c.2510T>A	c.(2509-2511)tTg>tAg	p.L837*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	837	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTGCCAAGCTTGAAGGATTCC	0.458													4	88					0	0	0	0	A	144780131	T	A	144780131	4	1	408	1	0	0	0	0	0	1	0	0	17199	1821	63	5	2584	5	UTRN	6	144780131	Nonsense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	32681	144780131	26334936	1394	79212											
FBXO30	84085	broad.mit.edu	37	chr6	146126460	146126460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaacacaattcaccttcaCcttcatcatctggcatgagg	11	11	5	14	0	5	1	4	1	1	0	6	1	6	1	3	2	1	1	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:146126460C>T	ENST00000237281.4	-	2	1248	c.1082G>A	c.(1081-1083)gGt>gAt	p.G361D		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	361							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTCACCTTCACCTTCATCATC	0.423													21	105					0	0	0	0	T	146126460	C	T	146126460	3	4	408	1	0	0	0	0	1	0	0	0	5785	507	18	4	1163	4	FBXO30	6	146126460	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1346329	146126460	24988607	1395	79213											
SHPRH	257218	broad.mit.edu	37	chr6	146247394	146247394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtatccctgggtgcctggcTatcaacaattccatcaagtt	9	12	9	11	0	2	0	2	0	0	0	4	0	4	0	3	3	2	3	3	3	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:146247394T>C	ENST00000367503.3	-	16	3665	c.3267A>G	c.(3265-3267)atA>atG	p.I1089M	SHPRH_ENST00000275233.7_Missense_Mutation_p.I1080M|SHPRH_ENST00000438092.2_Missense_Mutation_p.I1089M|SHPRH_ENST00000367505.2_Missense_Mutation_p.I1080M	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1080					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGTGCCTGGCTATCAACAATT	0.388													29	96					0	0	0	0	C	146247394	T	C	146247394	3	2	408	1	0	0	0	0	1	0	0	0	14379	1512	53	5	1888	5	SHPRH	6	146247394	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	120934	146247394	24867673	1396	79214											
UST	10090	broad.mit.edu	37	chr6	149342555	149342555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttggaagatgtgctgcTgttactggaaagatttttac	11	14	12	4	0	0	3	0	0	0	3	0	5	0	5	0	2	4	4	0	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:149342555T>C	ENST00000367463.4	+	7	978	c.875T>C	c.(874-876)cTg>cCg	p.L292P		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	292					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GATGTGCTGCTGTTACTGGAA	0.458													25	66					0	0	0	0	C	149342555	T	C	149342555	3	2	408	1	0	0	0	0	1	0	0	0	17189	1580	55	5	901	5	UST	6	149342555	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3095161	149342555	21772512	1397	79215											
TAB2	23118	broad.mit.edu	37	chr6	149691182	149691182	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggttttacatgacctgCgacaaaaattccctgaagta	13	12	7	9	1	1	2	1	2	0	0	2	3	2	2	2	1	2	2	2	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:149691182C>T	ENST00000367456.1	+	3	626	c.49C>T	c.(49-51)Cga>Tga	p.R17*	TAB2_ENST00000536230.1_Intron|TAB2_ENST00000392282.1_Nonsense_Mutation_p.R17*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.R17*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.R17*			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	17	CUE.				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|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 NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACATGACCTGCGACAAAAATT	0.393													8	71					0	0	0	0	T	149691182	C	T	149691182	4	4	408	1	0	0	0	0	0	1	0	0	15587	760	27	1	51	1	TAB2	6	149691182	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	348627	149691182	21423885	1398	79216											
NUP43	348995	broad.mit.edu	37	chr6	150063646	150063646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggtgcactgctataggAaggactgccagggcctgtgt	9	9	14	9	0	0	0	0	0	0	0	0	2	0	2	2	4	3	2	2	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:150063646A>G	ENST00000340413.2	-	4	458	c.382T>C	c.(382-384)Tcc>Ccc	p.S128P	NUP43_ENST00000460354.2_Missense_Mutation_p.S128P|NUP43_ENST00000367403.3_Missense_Mutation_p.S189P|NUP43_ENST00000367404.4_Missense_Mutation_p.S128P	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	128					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CTGCTATAGGAAGGACTGCCA	0.463													26	122					0	0	0	0	G	150063646	A	G	150063646	3	3	408	1	0	0	0	0	1	0	0	0	10836	246	9	5	780	5	NUP43	6	150063646	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	372464	150063646	21051421	1399	79217											
AKAP12	9590	broad.mit.edu	37	chr6	151673725	151673725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagccctcctccctgccTaggtcaagaggaggcagtat	10	7	12	12	0	1	1	1	0	0	1	3	3	3	3	4	4	2	2	4	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:151673725T>C	ENST00000402676.2	+	4	4439	c.4199T>C	c.(4198-4200)cTa>cCa	p.L1400P	AKAP12_ENST00000253332.1_Missense_Mutation_p.L1400P|AKAP12_ENST00000359755.5_Missense_Mutation_p.L1295P|AKAP12_ENST00000354675.6_Missense_Mutation_p.L1302P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1400					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCTCCCTGCCTAGGTCAAGAG	0.507													27	90					0	0	0	0	C	151673725	T	C	151673725	3	2	408	1	0	0	0	0	1	0	0	0	448	1522	53	5	4238	5	AKAP12	6	151673725	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1610079	151673725	19441342	1400	79218											
SYNE1	23345	broad.mit.edu	37	chr6	152674485	152674485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtttttatgagtagaGccataccaatcagaatagga	15	12	9	5	0	1	4	1	2	0	2	1	5	1	5	2	1	2	2	2	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:152674485G>A	ENST00000367255.5	-	69	11767	c.11166C>T	c.(11164-11166)ggC>ggT	p.G3722G	SYNE1_ENST00000265368.4_Silent_p.G3722G|SYNE1_ENST00000448038.1_Silent_p.G3707G|SYNE1_ENST00000341594.5_Silent_p.G3693G|SYNE1_ENST00000423061.1_Silent_p.G3707G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3722					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATGAGTAGAGCCATACCAAT	0.393										HNSCC(10;0.0054)			42	132					0	0	0	0	A	152674485	G	A	152674485	2	1	408	1	0	0	0	0	0	0	0	1	15536	958	34	4		4	SYNE1	6	152674485	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1000760	152674485	18440582	1401	79219											
SYNE1	23345	broad.mit.edu	37	chr6	152683313	152683313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagctctcaccttggcttTtccgagcatcgttgttttat	5	17	7	12	2	1	0	1	0	1	0	5	1	3	0	3	1	2	5	3	1	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:152683313T>C	ENST00000367255.5	-	64	10892	c.10291A>G	c.(10291-10293)Aaa>Gaa	p.K3431E	SYNE1_ENST00000265368.4_Missense_Mutation_p.K3431E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3438E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3450E|SYNE1_ENST00000423061.1_Missense_Mutation_p.K3438E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3431					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTGGCTTTTCCGAGCATC	0.478										HNSCC(10;0.0054)			5	79					0	0	0	0	C	152683313	T	C	152683313	3	2	408	1	0	0	0	0	1	0	0	0	15536	1850	64	5	16507	5	SYNE1	6	152683313	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	8828	152683313	18431754	1402	79220											
SYNE1	23345	broad.mit.edu	37	chr6	152722363	152722363	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccatgttgttatgtcattAataaacttctccacttgtgt	11	17	5	8	0	2	0	1	0	1	0	3	0	2	0	2	0	2	2	2	0	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:152722363A>C	ENST00000367255.5	-	47	7540	c.6939T>G	c.(6937-6939)atT>atG	p.I2313M	SYNE1_ENST00000265368.4_Missense_Mutation_p.I2313M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I2320M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I2350M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I2320M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2313					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTATGTCATTAATAAACTTCT	0.378										HNSCC(10;0.0054)			24	60					0	0	0	0	C	152722363	A	C	152722363	3	2	408	1	0	0	0	0	1	0	0	0	15536	358	13	5	19927	5	SYNE1	6	152722363	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	39050	152722363	18392704	1403	79221											
MTRF1L	54516	broad.mit.edu	37	chr6	153323624	153323624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcagcagtttgatcaccGccagcaactcgggcctcctg	7	9	10	15	3	2	1	2	1	0	0	4	1	3	1	4	1	3	4	4	1	1	2	rs150895723		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:153323624G>A	ENST00000367233.5	-	1	196	c.197C>T	c.(196-198)gCg>gTg	p.A66V	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Missense_Mutation_p.A66V|MTRF1L_ENST00000367231.5_Missense_Mutation_p.A66V	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	66						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TTTGATCACCGCCAGCAACTC	0.657													12	30					0	0	0	0	A	153323624	G	A	153323624	3	1	408	1	0	0	0	0	1	0	0	0	10030	1087	38	1	973	1	MTRF1L	6	153323624	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	601261	153323624	17791443	1404	79222											
IPCEF1	26034	broad.mit.edu	37	chr6	154521162	154521162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgggtgaggatgaagatgCctgctgtgcagtctattttt	7	14	14	6	0	1	3	0	2	1	1	1	4	1	4	1	2	3	3	1	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:154521162C>T	ENST00000265198.4	-	10	702	c.547G>A	c.(547-549)Gca>Aca	p.A183T	IPCEF1_ENST00000367220.4_Missense_Mutation_p.A184T|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.A184T|IPCEF1_ENST00000519344.1_Missense_Mutation_p.A155T|IPCEF1_ENST00000519091.1_5'UTR	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GATGAAGATGCCTGCTGTGCA	0.388													10	43					0	0	0	0	T	154521162	C	T	154521162	3	4	408	1	0	0	0	0	1	0	0	0	7844	739	26	4	778	4	IPCEF1	6	154521162	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1197538	154521162	16593905	1405	79223											
CNKSR3	154043	broad.mit.edu	37	chr6	154763422	154763422	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcagtttcgaggccataAttctgtggaaaataaaatca	15	13	7	6	1	3	0	2	0	1	0	4	2	3	1	1	2	0	1	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:154763422A>G	ENST00000607772.1	-	3	763	c.219T>C	c.(217-219)aaT>aaC	p.N73N	CNKSR3_ENST00000479339.1_5'UTR	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	73					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CGAGGCCATAATTCTGTGGAA	0.423													33	85					0	0	0	0	G	154763422	A	G	154763422	2	3	408	1	0	0	0	0	0	0	0	1	3638	98	4	5		5	CNKSR3	6	154763422	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	242260	154763422	16351645	1406	79224											
TIAM2	26230	broad.mit.edu	37	chr6	155569238	155569238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagccggttcagagagtgCtcaagtacccgctgctgctc	8	9	11	13	2	3	1	3	0	0	1	4	2	3	1	2	1	5	6	2	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:155569238C>T	ENST00000461783.3	+	22	5030	c.3757C>T	c.(3757-3759)Ctc>Ttc	p.L1253F	TIAM2_ENST00000367174.2_Missense_Mutation_p.L629F|TIAM2_ENST00000528391.2_Missense_Mutation_p.L589F|TIAM2_ENST00000275246.7_Missense_Mutation_p.L178F|TIAM2_ENST00000318981.5_Missense_Mutation_p.L1253F|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1277F|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1253F|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1253F|TIAM2_ENST00000456877.2_Missense_Mutation_p.L565F			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1253	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCAGAGAGTGCTCAAGTACCC	0.622											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	74					0	0	0	0	T	155569238	C	T	155569238	3	4	408	1	0	0	0	0	1	0	0	0	15985	797	28	4	3823	4	TIAM2	6	155569238	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	805816	155569238	15545829	1407	79225											
SYNJ2	8871	broad.mit.edu	37	chr6	158487492	158487492	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgactcccaggatcctGaaagctatgactgagcgtca	12	8	10	11	1	1	4	1	4	0	0	3	5	3	5	2	1	2	1	2	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:158487492G>T	ENST00000355585.4	+	12	1617	c.1542G>T	c.(1540-1542)ctG>ctT	p.L514L	SYNJ2_ENST00000367121.3_Silent_p.L514L|SYNJ2_ENST00000367122.2_Silent_p.L514L|SYNJ2_ENST00000449859.2_Silent_p.L442L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	514							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAGGATCCTGAAAGCTATGA	0.507													15	61					2.23348e-06	2.28775e-06	1	0	T	158487492	G	T	158487492	2	4	408	1	0	0	0	0	0	0	0	1	15544	1277	45	2		2	SYNJ2	6	158487492	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2918254	158487492	12627575	1408	79226											
SYNJ2	8871	broad.mit.edu	37	chr6	158492712	158492712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcggcatccgcttccaGttccacagcaccagcttctg	6	9	9	17	3	1	0	0	0	1	0	5	0	4	0	5	1	2	5	5	1	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:158492712G>A	ENST00000355585.4	+	15	2094	c.2019G>A	c.(2017-2019)caG>caA	p.Q673Q	SYNJ2_ENST00000367121.3_Silent_p.Q673Q|SYNJ2_ENST00000367122.2_Silent_p.Q673Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	673							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCCGCTTCCAGTTCCACAGCA	0.592													42	87					0	0	0	0	A	158492712	G	A	158492712	2	1	408	1	0	0	0	0	0	0	0	1	15544	1020	36	4		4	SYNJ2	6	158492712	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5220	158492712	12622355	1409	79227											
SERAC1	84947	broad.mit.edu	37	chr6	158579328	158579328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctctccagtgtgtgccaCtttttggtggggaagtagag	7	14	13	7	0	1	1	0	0	1	1	3	2	2	2	2	3	1	1	2	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:158579328C>T	ENST00000367102.2	-	2	209	c.68G>A	c.(67-69)aGt>aAt	p.S23N	SERAC1_ENST00000367101.1_Missense_Mutation_p.S23N|SERAC1_ENST00000367104.3_Missense_Mutation_p.S23N|SERAC1_ENST00000607000.1_Missense_Mutation_p.S23N			Q96JX3	SRAC1_HUMAN	serine active site containing 1	23					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTGTGTGCCACTTTTTGGTGG	0.398													5	92					0	0	0	0	T	158579328	C	T	158579328	3	4	408	1	0	0	0	0	1	0	0	0	14161	565	20	4	1960	4	SERAC1	6	158579328	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	86616	158579328	12535739	1410	79228											
EZR	7430	broad.mit.edu	37	chr6	159188024	159188024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgtcttgtacttgtcccgGccttgcctcatgttctcgtt	3	16	9	13	3	3	0	1	0	2	0	5	0	4	0	3	1	3	3	3	1	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:159188024G>A	ENST00000367075.3	-	14	1851	c.1683C>T	c.(1681-1683)ggC>ggT	p.G561G	EZR_ENST00000337147.7_Silent_p.G561G|EZR_ENST00000392177.4_Silent_p.G529G	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	561	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACTTGTCCCGGCCTTGCCTCA	0.582			T	ROS1	NSCLC								59	142					0	0	0	0	A	159188024	G	A	159188024	2	1	408	1	0	0	0	0	0	0	0	1	5373	1190	42	4		4	EZR	6	159188024	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	608696	159188024	11927043	1411	79229											
FNDC1	84624	broad.mit.edu	37	chr6	159636044	159636044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacaggctgtccgttgcGtggaaggcaccacgcctgtc	7	8	14	12	3	0	1	0	1	0	0	2	3	1	2	3	3	1	3	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:159636044G>A	ENST00000297267.9	+	5	728	c.528G>A	c.(526-528)gcG>gcA	p.A176A	FNDC1_ENST00000340366.6_Silent_p.A176A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	176	Fibronectin type-III 2.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTCCGTTGCGTGGAAGGCAC	0.562													15	66					0	0	0	0	A	159636044	G	A	159636044	2	1	408	1	0	0	0	0	0	0	0	1	6013	1132	40	1		1	FNDC1	6	159636044	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	448020	159636044	11479023	1412	79230											
FNDC1	84624	broad.mit.edu	37	chr6	159653369	159653369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctggccacgcagcccCgcccaggggcgcccccctcg	3	5	11	22	4	0	0	0	0	0	0	2	0	1	0	8	3	1	1	8	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:159653369C>T	ENST00000297267.9	+	11	2025	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R546C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	609						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACGCAGCCCCGCCCAGGGGC	0.687													13	48					0	0	0	0	T	159653369	C	T	159653369	3	4	408	1	0	0	0	0	1	0	0	0	6013	652	23	1	1867	1	FNDC1	6	159653369	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	17325	159653369	11461698	1413	79231											
WTAP	9589	broad.mit.edu	37	chr6	160176433	160176433	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggcagaggaggtagtggTtacgtaaatcaactcagtgc	12	9	13	7	1	2	1	2	0	0	1	2	2	2	2	0	4	3	4	0	4	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:160176433T>C	ENST00000358372.4	+	8	2738	c.981T>C	c.(979-981)ggT>ggC	p.G327G	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	327					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GAGGTAGTGGTTACGTAAATC	0.493													19	80					0	0	0	0	C	160176433	T	C	160176433	2	2	408	1	0	0	0	0	0	0	0	1	17505	1712	60	5		5	WTAP	6	160176433	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	523064	160176433	10938634	1414	79232											
SLC22A3	6581	broad.mit.edu	37	chr6	160858095	160858095	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatagggggcaacctctaTatagactttttcatctcggg	10	14	9	8	1	3	1	1	0	2	1	4	1	3	1	1	3	1	1	1	3	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:160858095T>C	ENST00000392145.1	+	7	1167	c.1140T>C	c.(1138-1140)taT>taC	p.Y380Y	SLC22A3_ENST00000275300.2_Silent_p.Y380Y			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	380						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GCAACCTCTATATAGACTTTT	0.507													10	199					0	0	0	0	C	160858095	T	C	160858095	2	2	408	1	0	0	0	0	0	0	0	1	14543	1413	49	5		5	SLC22A3	6	160858095	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	681662	160858095	10256972	1415	79233											
LPA	4018	broad.mit.edu	37	chr6	160968927	160968927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcccagtaacagtggttGccttcttgccccggtatcct	5	12	10	14	2	1	0	0	0	1	0	3	0	3	0	5	2	3	3	5	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:160968927G>A	ENST00000447678.1	-	33	5318	c.5198C>T	c.(5197-5199)gCa>gTa	p.A1733V	LPA_ENST00000316300.5_Missense_Mutation_p.A1733V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4241	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AACAGTGGTTGCCTTCTTGCC	0.483													21	125					0	0	0	0	A	160968927	G	A	160968927	3	1	408	1	0	0	0	0	1	0	0	0	8967	1319	46	4	956	4	LPA	6	160968927	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	110832	160968927	10146140	1416	79234											
PLG	5340	broad.mit.edu	37	chr6	161134060	161134060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagagggactggaggagaaCtactgcaggaatccagacaa	15	5	13	8	0	1	3	1	0	0	3	2	7	2	6	1	4	3	1	1	4	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:161134060C>T	ENST00000308192.9	+	5	513	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	150	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGAGGAGAACTACTGCAGGA	0.473													34	146					0	0	0	0	T	161134060	C	T	161134060	2	4	408	1	0	0	0	0	0	0	0	1	12158	564	20	4		4	PLG	6	161134060	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	165133	161134060	9981007	1417	79235											
MAP3K4	4216	broad.mit.edu	37	chr6	161507695	161507695	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatcaaaacagtatgTcaaggtaagtacttcaaatg	17	11	7	6	0	4	1	3	1	1	0	4	1	4	1	0	1	2	3	0	1	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:161507695T>G	ENST00000392142.4	+	9	2700	c.2552T>G	c.(2551-2553)gTc>gGc	p.V851G	MAP3K4_ENST00000366920.2_Missense_Mutation_p.V851G|MAP3K4_ENST00000366919.2_Missense_Mutation_p.V851G|MAP3K4_ENST00000348824.7_Missense_Mutation_p.V851G	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	851					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAACAGTATGTCAAGGTAAGT	0.378													3	46					0	0	0	0	G	161507695	T	G	161507695	3	3	408	1	0	0	0	0	1	0	0	0	9321	1667	58	5	2586	5	MAP3K4	6	161507695	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	373635	161507695	9607372	1418	79236											
MAP3K4	4216	broad.mit.edu	37	chr6	161512474	161512474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgtggaccacatgttcAcatcagaatttgatgctgag	11	10	10	10	2	2	3	2	2	0	1	2	4	2	4	2	1	1	2	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:161512474A>G	ENST00000392142.4	+	12	3185	c.3037A>G	c.(3037-3039)Aca>Gca	p.T1013A	MAP3K4_ENST00000366920.2_Missense_Mutation_p.T1013A|MAP3K4_ENST00000366919.2_Missense_Mutation_p.T1013A|MAP3K4_ENST00000348824.7_Missense_Mutation_p.T1013A	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1013					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCACATGTTCACATCAGAATT	0.423													54	158					0	0	0	0	G	161512474	A	G	161512474	3	3	408	1	0	0	0	0	1	0	0	0	9321	159	6	5	3083	5	MAP3K4	6	161512474	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4779	161512474	9602593	1419	79237											
MAP3K4	4216	broad.mit.edu	37	chr6	161519378	161519378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgccagtcggc	1	13	14	13	1	0	0	0	0	0	0	1	0	0	0	1	1	10	10	1	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:161519378C>T	ENST00000392142.4	+	17	3741	c.3593C>T	c.(3592-3594)gCt>gTt	p.A1198V	MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1198	Poly-Ala.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgctgttgct	0.597													83	210					0	0	0	0	T	161519378	C	T	161519378	3	4	408	1	0	0	0	0	1	0	0	0	9321	797	28	4	3659	4	MAP3K4	6	161519378	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	6904	161519378	9595689	1420	79238											
T	6862	broad.mit.edu	37	chr6	166571971	166571971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggggtgtgtagtgcgcGggggagccccggaagaactg	7	6	21	7	3	0	2	0	1	0	1	0	4	0	4	2	5	3	1	2	5	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:166571971G>A	ENST00000296946.2	-	9	1608	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	T_ENST00000366871.3_Silent_p.P322P	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	380					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGTAGTGCGCGGGGGAGCCCC	0.711									Chordoma, Familial Clustering of				28	59					0	0	0	0	A	166571971	G	A	166571971	2	1	408	1	0	0	0	0	0	0	0	1	15579	1103	39	1		1	T	6	166571971	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5052593	166571971	4543096	1421	79239											
MLLT4	4301	broad.mit.edu	37	chr6	168366483	168366483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctggaagccgagaggcGcagacagcacgacgaggcgg	10	1	17	13	6	0	2	0	0	0	2	0	6	0	3	3	4	2	2	3	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:168366483G>A	ENST00000366806.2	+	32	5136	c.4994G>A	c.(4993-4995)cGc>cAc	p.R1665H	MLLT4_ENST00000392112.1_Missense_Mutation_p.R1648H|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1675H|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1672H|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1665H			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1665					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCCGAGAGGCGCAGACAGCAC	0.677			T	MLL	AL								4	6					0	0	0	0	A	168366483	G	A	168366483	3	1	408	1	0	0	0	0	1	0	0	0	9698	1087	38	1	5243	1	MLLT4	6	168366483	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1794512	168366483	2748584	1422	79240											
THBS2	7058	broad.mit.edu	37	chr6	169632254	169632255	+	Frame_Shift_Del	DEL	TG	TG	-																															ctccgcgtgcttgtggcagtTgtgtgtcttgtccttgcatg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:169632254_169632255delTG	ENST00000366787.3	-	14	2220_2221	c.1971_1972delCA	c.(1969-1974)caacfs	p.HN657fs	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	657	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGTGGCAGTTGTGTGTCTTGT	0.629													20	136	---	---	---	---					-	169632255	TG	-	169632254	7	5	408	1	0	1	0	1	0	0	0	0	15948	1812	63	0	1586	0	THBS2	6	169632254	Frame_Shift_Del	DEL	TG	TCGA-F7-A624-01A-22D-A30E-08	1265771	169632254	1482813	1423	79241											
DLL1	28514	broad.mit.edu	37	chr6	170597815	170597815	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggtttgggttttgtttttAcctgttgcgaggtcatcagg	4	17	15	5	1	2	0	2	0	0	0	2	1	2	0	1	5	2	4	1	5	1	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:170597815A>G	ENST00000366756.3	-	3	746		c.e3+1			NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)						cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TTTTGTTTTTACCTGTTGCGA	0.498													59	155					0	0	0	0	G	170597815	A	G	170597815	5	3	408	1	0	0	0	0	0	0	1	0	4603	405	14	5	1793	5	DLL1	6	170597815	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	965561	170597815	517252	1424	79242											
SUN1	23353	broad.mit.edu	37	chr7	905684	905684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtggtacttctcgcagTccccgcgcgtggtcatccag	4	10	12	15	5	2	0	1	0	1	0	5	0	4	0	3	2	1	3	3	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:905684T>C	ENST00000456758.2	+	22	2527	c.2527T>C	c.(2527-2529)Tcc>Ccc	p.S843P	SUN1_ENST00000452783.2_Missense_Mutation_p.S551P|SUN1_ENST00000425407.2_Missense_Mutation_p.S571P|SUN1_ENST00000413514.2_Missense_Mutation_p.S452P|SUN1_ENST00000405266.1_Missense_Mutation_p.S691P|SUN1_ENST00000389574.3_Missense_Mutation_p.S571P|SUN1_ENST00000401592.1_Missense_Mutation_p.S654P			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	681					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTCGCAGTCCCCGCGCGT	0.577													25	47					0	0	0	0	C	905684	T	C	905684	3	2	408	1	0	0	0	0	1	0	0	0	15481	1667	58	5	2205	5	SUN1	7	905684	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08		905684	158232979	1425	79243											
TTYH3	80727	broad.mit.edu	37	chr7	2687628	2687628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgctgctgctggacgTcatcatctgcctcctggtgc	3	11	13	14	1	3	0	2	0	1	0	4	1	4	1	3	3	5	3	3	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:2687628T>C	ENST00000258796.7	+	5	867	c.662T>C	c.(661-663)gTc>gCc	p.V221A	TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.V50A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	221						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGCTGGACGTCATCATCTGC	0.706													21	90					0	0	0	0	C	2687628	T	C	2687628	3	2	408	1	0	0	0	0	1	0	0	0	16837	1667	58	5	680	5	TTYH3	7	2687628	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1781944	2687628	156451035	1426	79244											
CARD11	84433	broad.mit.edu	37	chr7	2979480	2979480	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggccgattttcaatgTcattcttcagttttagagac	8	17	8	8	1	5	1	3	0	2	1	5	3	5	1	1	1	0	1	1	1	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:2979480T>G	ENST00000396946.4	-	6	1170	c.767A>C	c.(766-768)gAc>gCc	p.D256A		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	256					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATTTTCAATGTCATTCTTCAG	0.468			Mis		DLBCL								42	146					0	0	0	0	G	2979480	T	G	2979480	3	3	408	1	0	0	0	0	1	0	0	0	2670	1667	58	5	2777	5	CARD11	7	2979480	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	291852	2979480	156159183	1427	79245											
RADIL	55698	broad.mit.edu	37	chr7	4874654	4874654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcaccacggtcctgtGccccacctcggagaagttga	8	7	12	14	2	0	2	0	1	0	1	2	3	1	2	5	2	3	3	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:4874654G>A	ENST00000399583.3	-	4	1187	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	RADIL_ENST00000536091.1_Missense_Mutation_p.H334Y|RADIL_ENST00000538469.1_Missense_Mutation_p.H94Y	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	334	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACGGTCCTGTGCCCCACCTCG	0.726													11	22					0	0	0	0	A	4874654	G	A	4874654	3	1	408	1	0	0	0	0	1	0	0	0	13079	1319	46	4	2275	4	RADIL	7	4874654	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1895174	4874654	154264009	1428	79246											
RBAK	57786	broad.mit.edu	37	chr7	5104851	5104851	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttcagacatcaaagagtAcacacaggcgagaaacccta	16	6	7	12	1	3	3	2	0	1	3	3	4	3	3	1	1	2	1	1	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5104851A>G	ENST00000396912.1	+	5	2283	c.1764A>G	c.(1762-1764)gtA>gtG	p.V588V	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.V588V	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	588	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATCAAAGAGTACACACAGGCG	0.378													5	49					0	0	0	0	G	5104851	A	G	5104851	2	3	408	1	0	0	0	0	0	0	0	1	13182	378	14	5		5	RBAK	7	5104851	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	230197	5104851	154033812	1429	79247											
SLC29A4	222962	broad.mit.edu	37	chr7	5330489	5330489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggactacctgcatcacaagtAcccaggtgggtccctccacg	9	7	10	15	1	1	0	1	0	0	0	3	1	3	1	4	3	3	2	4	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5330489A>G	ENST00000396872.2	+	3	457	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	SLC29A4_ENST00000406453.3_Missense_Mutation_p.Y99C|SLC29A4_ENST00000297195.4_Missense_Mutation_p.Y99C	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	99					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CATCACAAGTACCCAGGTGGG	0.627													31	89					0	0	0	0	G	5330489	A	G	5330489	3	3	408	1	0	0	0	0	1	0	0	0	14625	391	14	5	302	5	SLC29A4	7	5330489	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	225638	5330489	153808174	1430	79248											
TNRC18	84629	broad.mit.edu	37	chr7	5348802	5348802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccgggctggtctcctcGgggtggtagaaccacttgac	5	10	14	12	2	1	2	0	1	1	1	3	2	1	2	3	5	2	2	3	5	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5348802G>A	ENST00000399537.4	-	28	8934	c.8586C>T	c.(8584-8586)ccC>ccT	p.P2862P	TNRC18_ENST00000430969.1_Silent_p.P2862P			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2862	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGTCTCCTCGGGGTGGTAGA	0.692													12	46					0	0	0	0	A	5348802	G	A	5348802	2	1	408	1	0	0	0	0	0	0	0	1	16433	1103	39	1		1	TNRC18	7	5348802	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	18313	5348802	153789861	1431	79249											
TNRC18	84629	broad.mit.edu	37	chr7	5427892	5427892	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggccagcacggccatctgCgtggcggcgaagttgcccag	6	5	16	14	5	1	0	0	0	1	0	1	1	1	0	3	4	3	2	3	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5427892C>T	ENST00000399537.4	-	5	1911	c.1563G>A	c.(1561-1563)acG>acA	p.T521T	TNRC18_ENST00000430969.1_Silent_p.T521T			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	521							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGCCATCTGCGTGGCGGCGA	0.701													6	27					0	0	0	0	T	5427892	C	T	5427892	2	4	408	1	0	0	0	0	0	0	0	1	16433	755	27	1		1	TNRC18	7	5427892	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	79090	5427892	153710771	1432	79250											
FBXL18	80028	broad.mit.edu	37	chr7	5541181	5541181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacctcctggttgatgtagCcgggggccaggcgcgcatag	6	7	15	13	3	0	1	0	1	0	0	1	1	1	1	5	4	1	3	5	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5541181C>T	ENST00000382368.3	-	3	842	c.719G>A	c.(718-720)gGc>gAc	p.G240D	FBXL18_ENST00000453700.3_Missense_Mutation_p.G240D	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	240									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GTTGATGTAGCCGGGGGCCAG	0.652													13	32					0	0	0	0	T	5541181	C	T	5541181	3	4	408	1	0	0	0	0	1	0	0	0	5759	739	26	4	1449	4	FBXL18	7	5541181	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	113289	5541181	153597482	1433	79251											
USP42	84132	broad.mit.edu	37	chr7	6182587	6182587	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagagtgtcaacaaggcaTtggagcagtttgtgaagccg	11	9	13	8	1	2	2	2	1	0	1	2	3	2	3	1	2	3	3	1	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:6182587T>C	ENST00000306177.5	+	8	978	c.820T>C	c.(820-822)Ttg>Ctg	p.L274L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	274					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAACAAGGCATTGGAGCAGTT	0.532													23	68					0	0	0	0	C	6182587	T	C	6182587	2	2	408	1	0	0	0	0	0	0	0	1	17169	1490	52	5		5	USP42	7	6182587	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	641406	6182587	152956076	1434	79252											
DAGLB	221955	broad.mit.edu	37	chr7	6476142	6476142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttagacatagacttccgCggtccagggttacaaatcgt	11	10	10	10	3	0	2	0	0	0	2	3	2	2	2	2	2	2	2	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:6476142C>T	ENST00000297056.6	-	3	439	c.270G>A	c.(268-270)ccG>ccA	p.P90P	DAGLB_ENST00000436575.1_Silent_p.P49P|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000425398.2_Silent_p.P90P|DAGLB_ENST00000479922.2_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	90					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TAGACTTCCGCGGTCCAGGGT	0.498													43	127					0	0	0	0	T	6476142	C	T	6476142	2	4	408	1	0	0	0	0	0	0	0	1	4260	755	27	1		1	DAGLB	7	6476142	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	293555	6476142	152662521	1435	79253											
MIOS	54468	broad.mit.edu	37	chr7	7612634	7612634	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacattattagtaacaaaAccactttatgagttaggaca	18	11	5	7	0	0	1	0	1	0	0	0	2	0	2	1	1	3	2	1	1	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:7612634A>G	ENST00000340080.4	+	4	949	c.528A>G	c.(526-528)aaA>aaG	p.K176K	MIOS_ENST00000405785.1_Silent_p.K176K	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	176										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGTAACAAAACCACTTTATG	0.388													13	40					0	0	0	0	G	7612634	A	G	7612634	2	3	408	1	0	0	0	0	0	0	0	1	9658	40	2	5		5	MIOS	7	7612634	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1136492	7612634	151526029	1436	79254											
THSD7A	221981	broad.mit.edu	37	chr7	11581241	11581241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctcattggtaatgcgccGcttcctcagtttgaagcctg	6	12	12	11	2	2	1	2	1	0	0	3	1	3	1	3	2	2	4	3	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:11581241G>A	ENST00000423059.3	-	6	1878	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	543	TSP type-1 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTAATGCGCCGCTTCCTCAGT	0.448										HNSCC(18;0.044)			9	35					0	0	0	0	A	11581241	G	A	11581241	3	1	408	1	0	0	0	0	1	0	0	0	15973	1086	38	1	3434	1	THSD7A	7	11581241	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3968607	11581241	147557422	1437	79255											
ANKMY2	57037	broad.mit.edu	37	chr7	16640449	16640449	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttccaactcagcttcgctTtcaagagattctttctttcc	7	16	4	14	1	4	1	2	0	2	1	7	2	6	1	3	0	2	2	3	0	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:16640449T>C	ENST00000306999.2	-	10	1506	c.1263A>G	c.(1261-1263)gaA>gaG	p.E421E		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	421						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGCTTCGCTTTCAAGAGATT	0.488													25	54					0	0	0	0	C	16640449	T	C	16640449	2	2	408	1	0	0	0	0	0	0	0	1	635	1838	64	5		5	ANKMY2	7	16640449	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5059208	16640449	142498214	1438	79256											
SNX13	23161	broad.mit.edu	37	chr7	17930068	17930068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatcgcttagtgtataatAccaatactggacataatccc	14	12	5	10	1	1	0	1	0	0	0	3	1	2	1	2	1	2	2	2	1	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:17930068A>G	ENST00000409389.1	-	5	530	c.358T>C	c.(358-360)Tat>Cat	p.Y120H	SNX13_ENST00000428135.3_Missense_Mutation_p.Y120H|SNX13_ENST00000409604.1_Missense_Mutation_p.Y120H			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	120	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			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)					AGTGTATAATACCAATACTGG	0.328													17	61					0	0	0	0	G	17930068	A	G	17930068	3	3	408	1	0	0	0	0	1	0	0	0	14972	391	14	5	2603	5	SNX13	7	17930068	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1289619	17930068	141208595	1439	79257											
HDAC9	9734	broad.mit.edu	37	chr7	18767277	18767277	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggttggcatggatggAttagagaaacaccgtctcgt	9	10	14	8	3	1	1	0	0	1	1	2	4	1	3	1	4	2	3	1	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:18767277A>G	ENST00000406451.3	+	13	1947	c.1797A>G	c.(1795-1797)ggA>ggG	p.G599G	HDAC9_ENST00000441542.2_Silent_p.G602G|HDAC9_ENST00000432645.2_Silent_p.G599G|HDAC9_ENST00000401921.1_Silent_p.G558G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	599					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCATGGATGGATTAGAGAAAC	0.587													6	32					0	0	0	0	G	18767277	A	G	18767277	2	3	408	1	0	0	0	0	0	0	0	1	7064	320	12	5		5	HDAC9	7	18767277	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	837209	18767277	140371386	1440	79258											
HDAC9	9734	broad.mit.edu	37	chr7	18833006	18833006	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgagctacactcgtcCggtgctgcacgcatggctgt	7	10	13	11	3	0	1	0	1	0	0	2	2	1	2	1	3	4	5	1	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:18833006C>A	ENST00000406451.3	+	17	2394	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	HDAC9_ENST00000441542.2_Silent_p.S751S|HDAC9_ENST00000432645.2_Silent_p.S748S|HDAC9_ENST00000401921.1_Silent_p.S707S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	748	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TACACTCGTCCGGTGCTGCAC	0.527													4	6					3.59834e-05	3.66827e-05	1	0	A	18833006	C	A	18833006	2	1	408	1	0	0	0	0	0	0	0	1	7064	639	23	3		3	HDAC9	7	18833006	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	65729	18833006	140305657	1441	79259											
FERD3L	222894	broad.mit.edu	37	chr7	19184834	19184834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaaccgcgccatcctcctgGgtcttccctctcggagcgca	6	8	9	18	4	2	0	0	0	2	0	6	1	5	1	5	2	2	1	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:19184834G>A	ENST00000275461.3	-	1	210	c.152C>T	c.(151-153)cCc>cTc	p.P51L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	51					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CATCCTCCTGGGTCTTCCCTC	0.662													16	46					0	0	0	0	A	19184834	G	A	19184834	3	1	408	1	0	0	0	0	1	0	0	0	5861	1232	43	4	352	4	FERD3L	7	19184834	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	351828	19184834	139953829	1442	79260											
MACC1	346389	broad.mit.edu	37	chr7	20198531	20198531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctccacttgaacacaaaAatcaaacaagtgcatctctc	16	8	5	12	0	2	1	1	1	1	0	5	1	3	1	1	1	3	2	1	1	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:20198531A>G	ENST00000400331.5	-	5	1761	c.1453T>C	c.(1453-1455)Ttt>Ctt	p.F485L	MACC1_ENST00000589011.1_Missense_Mutation_p.F485L|MACC1_ENST00000332878.4_Missense_Mutation_p.F485L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	485					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGAACACAAAAATCAAACAAG	0.398													32	87					0	0	0	0	G	20198531	A	G	20198531	3	3	408	1	0	0	0	0	1	0	0	0	9208	14	1	5	1117	5	MACC1	7	20198531	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1013697	20198531	138940132	1443	79261											
MACC1	346389	broad.mit.edu	37	chr7	20198916	20198916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggtggcagctggtgaCggaagagctttagcttgtgc	9	10	15	7	1	0	2	0	1	0	1	0	3	0	3	0	4	4	4	0	4	3	3	rs28637443	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:20198916C>T	ENST00000400331.5	-	5	1376	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	MACC1_ENST00000589011.1_Silent_p.P356P|MACC1_ENST00000332878.4_Silent_p.P356P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	356					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGCTGGTGACGGAAGAGCTT	0.403													19	43					0	0	0	0	T	20198916	C	T	20198916	2	4	408	1	0	0	0	0	0	0	0	1	9208	523	19	1		1	MACC1	7	20198916	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	385	20198916	138939747	1444	79262											
ITGB8	3696	broad.mit.edu	37	chr7	20441436	20441436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattggttttaatgaaacCgctaaaattcatatacacag	15	13	5	8	1	1	1	1	1	0	0	1	1	1	1	2	1	2	2	2	1	7	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:20441436C>T	ENST00000222573.3	+	10	2058	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	ITGB8_ENST00000537992.1_Silent_p.T323T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	458					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTAATGAAACCGCTAAAATTC	0.338													22	101					0	0	0	0	T	20441436	C	T	20441436	2	4	408	1	0	0	0	0	0	0	0	1	7954	639	23	1		1	ITGB8	7	20441436	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	242520	20441436	138697227	1445	79263											
SP4	6671	broad.mit.edu	37	chr7	21521694	21521694	+	Missense_Mutation	SNP	G	G	C																															ctggatgttttgtggcaaaaGattcacacggagtgatgagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21521694G>C	ENST00000222584.3	+	5	2278	c.2060G>C	c.(2059-2061)aGa>aCa	p.R687T		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	687					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGTGGCAAAAGATTCACACGG	0.378													6	152					0	0	0	0	C	21521694	G	C	21521694	3	2	408	1	0	0	0	0	1	0	0	0	15054	942	33	2	2078	2	SP4	7	21521694	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1080258	21521694	137616969	1446	79264	1041	3									
SP4	6671	broad.mit.edu	37	chr7	21521703	21521703	+	Missense_Mutation	SNP	G	G	A																															ttgtggcaaaagattcacacGgagtgatgagctccagagac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21521703G>A	ENST00000222584.3	+	5	2287	c.2069G>A	c.(2068-2070)cGg>cAg	p.R690Q		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	690					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGATTCACACGGAGTGATGAG	0.363													6	149					0	0	0	0	A	21521703	G	A	21521703	3	1	408	1	0	0	0	0	1	0	0	0	15054	1116	39	1	2087	1	SP4	7	21521703	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9	21521703	137616960	1447	79265	1041	3									
SP4	6671	broad.mit.edu	37	chr7	21521706	21521706	+	Missense_Mutation	SNP	G	G	A																															tggcaaaagattcacacggaGtgatgagctccagagacata																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21521706G>A	ENST00000222584.3	+	5	2290	c.2072G>A	c.(2071-2073)aGt>aAt	p.S691N		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	691					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TTCACACGGAGTGATGAGCTC	0.368													6	150					0	0	0	0	A	21521706	G	A	21521706	3	1	408	1	0	0	0	0	1	0	0	0	15054	1029	36	4	2090	4	SP4	7	21521706	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3	21521706	137616957	1448	79266	1041	3									
DNAH11	8701	broad.mit.edu	37	chr7	21677247	21677247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagttaatgttcaagacaGccaaagtagaaaatgtgtta	17	10	10	4	0	1	2	1	0	0	2	1	3	1	3	1	1	1	4	1	1	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21677247G>A	ENST00000328843.6	+	27	4790	c.4759G>A	c.(4759-4761)Gcc>Acc	p.A1587T	DNAH11_ENST00000409508.3_Missense_Mutation_p.A1582T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1587	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTCAAGACAGCCAAAGTAGA	0.318									Kartagener syndrome				3	6					0	0	0	0	A	21677247	G	A	21677247	3	1	408	1	0	0	0	0	1	0	0	0	4636	971	34	4	4865	4	DNAH11	7	21677247	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	155541	21677247	137461416	1449	79267											
DNAH11	8701	broad.mit.edu	37	chr7	21721179	21721179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctagatttctcagctgaatAcactgattacacttttgctg	10	16	6	9	0	2	3	1	2	2	1	3	3	2	3	0	0	4	2	0	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21721179A>G	ENST00000328843.6	+	31	5390	c.5359A>G	c.(5359-5361)Aca>Gca	p.T1787A	DNAH11_ENST00000409508.3_Missense_Mutation_p.T1782A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1787	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGCTGAATACACTGATTAC	0.393									Kartagener syndrome				3	33					0	0	0	0	G	21721179	A	G	21721179	3	3	408	1	0	0	0	0	1	0	0	0	4636	391	14	5	5481	5	DNAH11	7	21721179	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	43932	21721179	137417484	1450	79268											
DNAH11	8701	broad.mit.edu	37	chr7	21778377	21778378	+	Frame_Shift_Ins	INS	-	-	A																															actatggtcctggaggaaatINSaaaaaattgatttattttat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21778377_21778378insA	ENST00000328843.6	+	48	7756_7757	c.7725_7726insA	c.(7723-7728)aaaaaafs	p.KK2575fs	DNAH11_ENST00000409508.3_Frame_Shift_Ins_p.KK2568fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2575	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGAGGAAATAAAAAATTGAT	0.391									Kartagener syndrome				3	5	---	---	---	---					A	21778378	-	A	21778377	7	5	408	1	0	1	1	0	0	0	0	0	4636	1403	49	0	7912	0	DNAH11	7	21778377	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	57198	21778377	137360286	1451	79269											
DNAH11	8701	broad.mit.edu	37	chr7	21939016	21939016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaagaccttacccttcCggctgtcgtgtggctctccg	6	10	10	15	3	1	1	0	0	1	1	4	2	2	1	4	2	1	2	4	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21939016C>T	ENST00000328843.6	+	81	13164	c.13133C>T	c.(13132-13134)cCg>cTg	p.P4378L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P4371L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4378					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTACCCTTCCGGCTGTCGTG	0.537									Kartagener syndrome				10	226					0	0	0	0	T	21939016	C	T	21939016	3	4	408	1	0	0	0	0	1	0	0	0	4636	652	23	1	13452	1	DNAH11	7	21939016	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	160639	21939016	137199647	1452	79270											
CDCA7L	55536	broad.mit.edu	37	chr7	21947818	21947818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctcctggctctcatccCgagagtcatcctcagactca	9	10	6	16	1	5	2	4	0	2	2	9	3	7	2	3	1	1	1	3	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21947818C>T	ENST00000406877.3	-	4	890	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R170Q|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R158Q|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	204					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCTCTCATCCCGAGAGTCATC	0.463													17	31					0	0	0	0	T	21947818	C	T	21947818	3	4	408	1	0	0	0	0	1	0	0	0	3120	652	23	1	781	1	CDCA7L	7	21947818	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	8802	21947818	137190845	1453	79271											
GPNMB	10457	broad.mit.edu	37	chr7	23293794	23293794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttataccctaggaggccGtgtgcaggcggtcctgacca	7	11	12	11	2	0	1	0	1	0	0	1	2	1	2	4	4	2	1	4	4	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:23293794G>A	ENST00000258733.4	+	3	525	c.230G>A	c.(229-231)cGt>cAt	p.R77H	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000381990.2_Missense_Mutation_p.R77H|GPNMB_ENST00000409458.3_Missense_Mutation_p.R77H|GPNMB_ENST00000453162.2_Missense_Mutation_p.R77H			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	77					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTAGGAGGCCGTGTGCAGGCG	0.463													48	140					0	0	0	0	A	23293794	G	A	23293794	3	1	408	1	0	0	0	0	1	0	0	0	6669	1145	40	1	240	1	GPNMB	7	23293794	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1345976	23293794	135844869	1454	79272											
GPNMB	10457	broad.mit.edu	37	chr7	23299746	23299746	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcacaagtgaaagatgtgtAcgtggtaacaggtgagtggt	12	9	15	5	2	0	3	0	2	0	1	0	3	0	3	0	3	2	3	0	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:23299746A>G	ENST00000258733.4	+	5	984	c.689A>G	c.(688-690)tAc>tGc	p.Y230C	GPNMB_ENST00000539136.1_Missense_Mutation_p.Y131C|GPNMB_ENST00000381990.2_Missense_Mutation_p.Y230C|GPNMB_ENST00000453162.2_Missense_Mutation_p.Y172C			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	230					negative regulation of cell proliferation	melanosome		p.Y230F(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AAAGATGTGTACGTGGTAACA	0.478													27	88					0	0	0	0	G	23299746	A	G	23299746	3	3	408	1	0	0	0	0	1	0	0	0	6669	391	14	5	707	5	GPNMB	7	23299746	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5952	23299746	135838917	1455	79273											
IGF2BP3	10643	broad.mit.edu	37	chr7	23353164	23353165	+	Frame_Shift_Del	DEL	CT	CT	-																															tttgcctccttttccaataaCtctgccagcagcaaaggatg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:23353164_23353165delCT	ENST00000258729.3	-	13	1859_1860	c.1503_1504delAG	c.(1501-1506)agttfs	p.RV501fs		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	501	KH 4.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TTTCCAATAACTCTGCCAGCAG	0.416													36	133	---	---	---	---					-	23353165	CT	-	23353164	7	5	408	1	0	1	0	1	0	0	0	0	7628	565	20	0	247	0	IGF2BP3	7	23353164	Frame_Shift_Del	DEL	CT	TCGA-F7-A624-01A-22D-A30E-08	53418	23353164	135785499	1456	79274											
NPY	4852	broad.mit.edu	37	chr7	24324889	24324889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagcgactggggctgtcCggactgaccctcgccctgtc	7	7	12	15	3	0	1	0	1	0	0	3	3	1	2	3	3	2	1	3	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:24324889C>T	ENST00000407573.1	+	3	320	c.30C>T	c.(28-30)tcC>tcT	p.S10S	NPY_ENST00000242152.2_Silent_p.S10S|NPY_ENST00000405982.1_Silent_p.S10S			P01303	NPY_HUMAN	neuropeptide Y	10					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TGGGGCTGTCCGGACTGACCC	0.677													19	84					0	0	0	0	T	24324889	C	T	24324889	2	4	408	1	0	0	0	0	0	0	0	1	10678	639	23	1		1	NPY	7	24324889	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	971725	24324889	134813774	1457	79275											
SKAP2	8935	broad.mit.edu	37	chr7	26778441	26778441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acttccataataatagaataCcgttttactgagagcacacc	15	11	5	10	1	0	2	0	1	0	2	1	3	1	2	3	0	3	2	3	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:26778441C>T	ENST00000345317.2	-	6	755	c.442G>A	c.(442-444)Gta>Ata	p.V148I	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	148	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TAATAGAATACCGTTTTACTG	0.383													15	79					0	0	0	0	T	26778441	C	T	26778441	3	4	408	1	0	0	0	0	1	0	0	0	14444	507	18	4	665	4	SKAP2	7	26778441	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2453552	26778441	132360222	1458	79276											
HOXA4	3201	broad.mit.edu	37	chr7	27170286	27170286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagccgctgtgctgcgcgtActcctcgaagggagggaact	7	7	15	12	5	0	0	0	0	0	0	2	4	1	2	2	2	5	3	2	2	3	1	rs144521145		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:27170286A>G	ENST00000360046.5	-	1	132	c.67T>C	c.(67-69)Tac>Cac	p.Y23H	HOXA4_ENST00000428284.2_Missense_Mutation_p.Y23H|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	23	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TGCTGCGCGTACTCCTCGAAG	0.607													3	15					0	0	0	0	G	27170286	A	G	27170286	3	3	408	1	0	0	0	0	1	0	0	0	7344	391	14	5	903	5	HOXA4	7	27170286	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	391845	27170286	131968377	1459	79277											
HOXA6	3203	broad.mit.edu	37	chr7	27185535	27185535	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggctcccatacacagcAcctacgagcagaaacggccg	12	4	9	16	3	0	1	0	0	0	1	1	2	1	1	4	2	5	3	4	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:27185535A>G	ENST00000222728.3	-	2	468	c.442_splice	c.e2-1	p.G148_splice	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA3_ENST00000467897.2_Intron	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CATACACAGCACCTACGAGCA	0.632													34	107					0	0	0	0	G	27185535	A	G	27185535	5	3	408	1	0	0	0	0	0	0	1	0	7346	173	6	5	261	5	HOXA6	7	27185535	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	15249	27185535	131953128	1460	79278											
CREB5	9586	broad.mit.edu	37	chr7	28848871	28848871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagcccacaggggggcGccggcgaagggtggtagacg	8	2	18	13	4	0	1	0	0	0	1	0	2	0	1	4	6	1	1	4	6	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:28848871G>A	ENST00000357727.2	+	9	1484	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	CREB5_ENST00000409603.1_Missense_Mutation_p.R332H|CREB5_ENST00000396300.2_Missense_Mutation_p.R358H|CREB5_ENST00000396298.2_Missense_Mutation_p.R226H|CREB5_ENST00000396299.2_Missense_Mutation_p.R332H	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	365					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACAGGGGGGCGCCGGCGAAGG	0.632													31	92					0	0	0	0	A	28848871	G	A	28848871	3	1	408	1	0	0	0	0	1	0	0	0	3890	1087	38	1	1179	1	CREB5	7	28848871	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1663336	28848871	130289792	1461	79279											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126020	31126020	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatgtaaggccgtcatggTtttcttccactactgtgttg	7	15	11	8	1	2	0	1	0	1	0	3	1	3	1	2	3	1	3	2	3	3	6	rs141462042		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:31126020T>C	ENST00000304166.4	+	10	981	c.692T>C	c.(691-693)gTt>gCt	p.V231A	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V231A|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V210A|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V231A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	231					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCCGTCATGGTTTTCTTCCAC	0.562													13	33					0	0	0	0	C	31126020	T	C	31126020	3	2	408	1	0	0	0	0	1	0	0	0	303	1725	60	5	726	5	ADCYAP1R1	7	31126020	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2277149	31126020	128012643	1462	79280											
NEUROD6	63974	broad.mit.edu	37	chr7	31378346	31378346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgttgagctgcaagcaGcctgccaccaagtttgtagt	8	10	12	11	1	0	1	0	1	0	0	0	1	0	1	3	1	5	6	3	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:31378346G>A	ENST00000297142.3	-	2	859	c.537C>T	c.(535-537)ggC>ggT	p.G179G		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	179					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTGCAAGCAGCCTGCCACCA	0.517													42	102					0	0	0	0	A	31378346	G	A	31378346	2	1	408	1	0	0	0	0	0	0	0	1	10421	958	34	4		4	NEUROD6	7	31378346	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	252326	31378346	127760317	1463	79281											
BBS9	27241	broad.mit.edu	37	chr7	33390830	33390830	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatttttacattgcttataGcaccagatttgactagaaca	13	16	5	7	0	0	3	0	1	0	2	0	3	0	3	1	0	4	2	1	0	6	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:33390830G>A	ENST00000242067.6	+	14	1953		c.e14-1		BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000396127.2_Intron|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000350941.3_Intron	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATTGCTTATAGCACCAGATTT	0.328									Bardet-Biedl syndrome				17	39					0	0	0	0	A	33390830	G	A	33390830	5	1	408	1	0	0	0	0	0	0	1	0	1346	985	34	4	1482	4	BBS9	7	33390830	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2012484	33390830	125747833	1464	79282											
BMPER	168667	broad.mit.edu	37	chr7	34125525	34125525	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgatgtggatgacttTgctgaatcttggagggtgga	9	14	15	3	0	1	3	0	3	1	0	1	6	1	6	0	4	1	2	0	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:34125525T>C	ENST00000297161.2	+	14	1940	c.1566T>C	c.(1564-1566)ttT>ttC	p.F522F	BMPER_ENST00000426693.1_Silent_p.F522F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	522	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGGATGACTTTGCTGAATCTT	0.473													26	74					0	0	0	0	C	34125525	T	C	34125525	2	2	408	1	0	0	0	0	0	0	0	1	1473	1809	63	5		5	BMPER	7	34125525	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	734695	34125525	125013138	1465	79283											
NPSR1	387129	broad.mit.edu	37	chr7	34818098	34818098	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaggactggtcaacaTcttgacagatattaattggc	12	13	8	8	0	3	2	2	1	1	1	3	3	3	3	0	3	1	0	0	3	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:34818098T>A	ENST00000360581.1	+	3	433	c.305T>A	c.(304-306)aTc>aAc	p.I102N	NPSR1_ENST00000381539.3_Missense_Mutation_p.I102N|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.I102N|NPSR1_ENST00000359791.1_Missense_Mutation_p.I102N|NPSR1_ENST00000381542.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	102						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGGTCAACATCTTGACAGAT	0.403													11	43					0	0	0	0	A	34818098	T	A	34818098	3	1	408	1	0	0	0	0	1	0	0	0	10671	1435	50	5	315	5	NPSR1	7	34818098	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	692573	34818098	124320565	1466	79284											
TBX20	57057	broad.mit.edu	37	chr7	35280609	35280609	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttcttcttaatgatgTgcacccttggctggtactta	6	17	9	9	0	3	1	0	1	3	0	3	1	3	1	1	3	2	3	1	3	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:35280609T>C	ENST00000408931.3	-	5	1221	c.695A>G	c.(694-696)cAc>cGc	p.H232R		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	232						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CTTAATGATGTGCACCCTTGG	0.373													14	39					0	0	0	0	C	35280609	T	C	35280609	3	2	408	1	0	0	0	0	1	0	0	0	15750	1696	59	5	665	5	TBX20	7	35280609	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	462511	35280609	123858054	1467	79285											
HERPUD2	64224	broad.mit.edu	37	chr7	35709871	35709871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgactttctctattggtgCtggattttggagaactggga	8	15	12	6	0	1	2	0	1	1	1	2	5	1	4	0	4	2	1	0	4	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:35709871C>T	ENST00000396081.1	-	3	1097	c.293G>A	c.(292-294)aGc>aAc	p.S98N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S98N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	98	Ser-rich.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCTATTGGTGCTGGATTTTGG	0.383													19	70					0	0	0	0	T	35709871	C	T	35709871	3	4	408	1	0	0	0	0	1	0	0	0	7114	797	28	4	951	4	HERPUD2	7	35709871	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	429262	35709871	123428792	1468	79286											
SEPT7	989	broad.mit.edu	37	chr7	35913282	35913282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcgactacattgatagtAaatttgaggactacctaaat	15	14	6	6	1	0	2	0	2	0	0	1	4	0	3	1	1	2	1	1	1	8	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:35913282A>G	ENST00000494488.2	+	5	367	c.367A>G	c.(367-369)Aaa>Gaa	p.K123E	SEPT7_ENST00000399034.2_Missense_Mutation_p.K138E|SEPT7_ENST00000350320.6_Missense_Mutation_p.K136E|SEPT7_ENST00000399035.3_Missense_Mutation_p.K136E|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000435235.1_Missense_Mutation_p.K84E|SEPT7_ENST00000469679.2_Missense_Mutation_p.K136E			Q16181	SEPT7_HUMAN	septin 7	137					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CATTGATAGTAAATTTGAGGA	0.393													5	24					0	0	0	0	G	35913282	A	G	35913282	3	3	408	1	0	0	0	0	1	0	0	0	14156	363	13	5	425	5	SEPT7	7	35913282	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	203411	35913282	123225381	1469	79287											
EEPD1	80820	broad.mit.edu	37	chr7	36338672	36338672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggattccggataactggTcttggggcggggtggcttct	4	13	16	8	2	2	0	0	0	2	0	3	2	3	2	1	8	1	1	1	8	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:36338672T>C	ENST00000242108.4	+	8	2285	c.1567T>C	c.(1567-1569)Tct>Cct	p.S523P	EEPD1_ENST00000534978.1_Missense_Mutation_p.S523P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	523					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GGATAACTGGTCTTGGGGCGG	0.592													7	130					0	0	0	0	C	36338672	T	C	36338672	3	2	408	1	0	0	0	0	1	0	0	0	4968	1667	58	5	1593	5	EEPD1	7	36338672	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	425390	36338672	122799991	1470	79288											
ANLN	54443	broad.mit.edu	37	chr7	36464330	36464331	+	Frame_Shift_Ins	INS	-	-	A																															cctcaggccttgataagaagINSaaaaaaacatccaagtccaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:36464330_36464331insA	ENST00000265748.2	+	17	2909_2910	c.2688_2689insA	c.(2686-2691)aaaaaafs	p.KK896fs	ANLN_ENST00000396068.2_Frame_Shift_Ins_p.KK859fs	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	896	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTGATAAGAAGAAAAAAACATC	0.297													12	37	---	---	---	---					A	36464331	-	A	36464330	7	5	408	1	0	1	1	0	0	0	0	0	693	933	33	0	2754	0	ANLN	7	36464330	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	125658	36464330	122674333	1471	79289											
ELMO1	9844	broad.mit.edu	37	chr7	36934500	36934500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctggttcatcctctcGgactggcggattttcaggat	5	15	10	11	2	4	0	2	0	2	0	7	3	6	3	2	5	0	1	2	5	0	4	rs140840691		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:36934500G>A	ENST00000310758.4	-	17	2207	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	ELMO1_ENST00000448602.1_Silent_p.S520S|ELMO1_ENST00000341056.3_Silent_p.S222S|ELMO1_ENST00000396040.2_Silent_p.S40S|ELMO1_ENST00000396045.3_Silent_p.S40S|ELMO1_ENST00000442504.1_Silent_p.S520S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	520					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S520S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATCCTCTCGGACTGGCGGA	0.463													24	64					0	0	0	0	A	36934500	G	A	36934500	2	1	408	1	0	0	0	0	0	0	0	1	5103	1103	39	1		1	ELMO1	7	36934500	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	470170	36934500	122204163	1472	79290											
EPDR1	54749	broad.mit.edu	37	chr7	37989894	37989894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtgatattgtctacgcggTtttttgacatccagctgggt	6	16	12	7	2	1	2	0	2	1	0	2	2	2	2	1	2	2	2	1	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:37989894T>C	ENST00000199448.4	+	3	950	c.571T>C	c.(571-573)Ttt>Ctt	p.F191L	EPDR1_ENST00000425345.1_Missense_Mutation_p.F130L|EPDR1_ENST00000559325.1_Missense_Mutation_p.F311L|EPDR1_ENST00000476620.1_Missense_Mutation_p.F89L	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	191					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GTCTACGCGGTTTTTTGACAT	0.468													9	36					0	0	0	0	C	37989894	T	C	37989894	3	2	408	1	0	0	0	0	1	0	0	0	5201	1725	60	5	941	5	EPDR1	7	37989894	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1055394	37989894	121148769	1473	79291											
VPS41	27072	broad.mit.edu	37	chr7	38816315	38816315	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttacatacgaaagtacAacaagctgatcacagagagg	16	8	8	9	1	1	2	1	1	0	1	2	4	2	2	1	1	5	2	1	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:38816315A>G	ENST00000310301.4	-	11	900	c.846T>C	c.(844-846)gtT>gtC	p.V282V	VPS41_ENST00000395969.2_Silent_p.V257V|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	282					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACGAAAGTACAACAAGCTGAT	0.413													13	35					0	0	0	0	G	38816315	A	G	38816315	2	3	408	1	0	0	0	0	0	0	0	1	17306	117	5	5		5	VPS41	7	38816315	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	826421	38816315	120322348	1474	79292											
POU6F2	11281	broad.mit.edu	37	chr7	39500223	39500223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaagcttttaaaatcCggcgcctgtcccttggcctg	7	12	9	13	2	0	0	0	0	0	0	2	0	2	0	5	2	2	1	5	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:39500223C>T	ENST00000518318.2	+	9	1522	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	POU6F2_ENST00000559001.1_Missense_Mutation_p.R439W|POU6F2_ENST00000403058.1_Missense_Mutation_p.R494W			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	494	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTAAAATCCGGCGCCTGTC	0.552													3	19					0	0	0	0	T	39500223	C	T	39500223	3	4	408	1	0	0	0	0	1	0	0	0	12356	643	23	1	1514	1	POU6F2	7	39500223	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	683908	39500223	119638440	1475	79293											
C7orf10	79783	broad.mit.edu	37	chr7	40228095	40228095	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgttattattttcaggAgctggtgatgatacacgaac	11	14	9	7	1	2	2	2	2	0	0	2	4	2	3	0	2	3	2	0	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:40228095A>G	ENST00000309930.5	+	4	273	c.247_splice	c.e4-1	p.G83_splice	C7orf10_ENST00000540834.1_Splice_Site_p.G76_splice|C7orf10_ENST00000335693.4_Splice_Site_p.G83_splice|C7orf10_ENST00000401647.2_Splice_Site_p.G83_splice	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	83							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TATTTTCAGGAGCTGGTGATG	0.378													9	22					0	0	0	0	G	40228095	A	G	40228095	5	3	408	1	0	0	0	0	0	0	1	0	2399	318	11	5	263	5	C7orf10	7	40228095	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	727872	40228095	118910568	1476	79294											
BLVRA	644	broad.mit.edu	37	chr7	43827605	43827605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcagcgttcctgaacCtgattggcttcgtgtcgagg	5	13	11	12	3	1	2	1	2	0	0	5	3	3	2	3	2	2	2	3	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:43827605C>T	ENST00000402924.1	+	4	278	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	BLVRA_ENST00000265523.4_Silent_p.L39L	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	39					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GTTCCTGAACCTGATTGGCTT	0.552													43	138					0	0	0	0	T	43827605	C	T	43827605	2	4	408	1	0	0	0	0	0	0	0	1	1456	680	24	4		4	BLVRA	7	43827605	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3599510	43827605	115311058	1477	79295											
TNS3	64759	broad.mit.edu	37	chr7	47408411	47408411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggcagcggctcaccAgccgggcctccccatctggg	5	5	14	17	2	2	0	1	0	1	0	3	0	3	0	5	4	3	3	5	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:47408411A>G	ENST00000398879.1	-	17	2198	c.1832T>C	c.(1831-1833)cTg>cCg	p.L611P	TNS3_ENST00000355730.3_Missense_Mutation_p.L371P|TNS3_ENST00000311160.9_Missense_Mutation_p.L611P			Q68CZ2	TENS3_HUMAN	tensin 3	611						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCGGCTCACCAGCCGGGCCTC	0.657													4	107					0	0	0	0	G	47408411	A	G	47408411	3	3	408	1	0	0	0	0	1	0	0	0	16438	188	7	5	2565	5	TNS3	7	47408411	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3580806	47408411	111730252	1478	79296											
PKD1L1	168507	broad.mit.edu	37	chr7	47947813	47947813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttcggttccatgaaactcGttataaataacagccttgag	13	12	7	9	2	0	2	0	2	0	0	3	2	1	2	2	1	3	2	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:47947813G>A	ENST00000289672.2	-	9	1313	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	421					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATGAAACTCGTTATAAATAA	0.408													22	51					0	0	0	0	A	47947813	G	A	47947813	2	1	408	1	0	0	0	0	0	0	0	1	12036	1136	40	1		1	PKD1L1	7	47947813	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	539402	47947813	111190850	1479	79297											
UPP1	7378	broad.mit.edu	37	chr7	48147071	48147071	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgagatggagtcctcggtgTttgccgccatgtgcagcgcc	5	10	14	12	4	0	1	0	0	0	1	3	3	1	2	4	2	3	2	4	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48147071T>C	ENST00000331803.4	+	9	1383	c.760T>C	c.(760-762)Ttt>Ctt	p.F254L	UPP1_ENST00000341253.4_Missense_Mutation_p.F254L|UPP1_ENST00000429491.2_Missense_Mutation_p.F117L|UPP1_ENST00000395564.4_Missense_Mutation_p.F254L|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	254					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GTCCTCGGTGTTTGCCGCCAT	0.637													19	87					0	0	0	0	C	48147071	T	C	48147071	3	2	408	1	0	0	0	0	1	0	0	0	17108	1725	60	5	782	5	UPP1	7	48147071	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	199258	48147071	110991592	1480	79298											
ABCA13	154664	broad.mit.edu	37	chr7	48313595	48313595	+	Frame_Shift_Del	DEL	A	A	-																															gtaacttgggtgttaaatatAaaaaaacctctttgttcatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48313595delA	ENST00000435803.1	+	17	4356	c.4332delA	c.(4330-4332)atfs	p.I1444fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1444					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTTAAATATAAAAAAACCTC	0.269													14	51	---	---	---	---					-	48313595	A	-	48313595	7	5	408	1	0	1	0	1	0	0	0	0	31	352	13	0	4227	0	ABCA13	7	48313595	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	166524	48313595	110825068	1481	79299											
ABCA13	154664	broad.mit.edu	37	chr7	48314867	48314867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctgtctccccaaggTgaagattcaccatgttcaaa	11	11	6	13	0	3	2	2	1	1	1	5	2	4	2	5	1	0	1	5	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48314867T>C	ENST00000435803.1	+	17	5628	c.5604T>C	c.(5602-5604)ggT>ggC	p.G1868G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1868					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCCCAAGGTGAAGATTCAC	0.418													15	50					0	0	0	0	C	48314867	T	C	48314867	2	2	408	1	0	0	0	0	0	0	0	1	31	1683	59	5		5	ABCA13	7	48314867	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1272	48314867	110823796	1482	79300											
ABCA13	154664	broad.mit.edu	37	chr7	48317939	48317939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaataagactgaaaataataTagactttttcacagtggtga	18	12	7	4	0	1	4	1	2	0	2	1	4	1	4	0	1	0	0	0	1	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48317939T>C	ENST00000435803.1	+	18	7172	c.7148T>C	c.(7147-7149)aTa>aCa	p.I2383T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2383					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAAATAATATAGACTTTTTC	0.348													8	22					0	0	0	0	C	48317939	T	C	48317939	3	2	408	1	0	0	0	0	1	0	0	0	31	1406	49	5	7047	5	ABCA13	7	48317939	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3072	48317939	110820724	1483	79301											
ABCA13	154664	broad.mit.edu	37	chr7	48318466	48318466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaattctttgacactctgTattccatcatgcaacaaagt	13	14	5	9	0	3	2	1	2	2	0	4	2	4	2	1	0	2	2	1	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48318466T>C	ENST00000435803.1	+	18	7699	c.7675T>C	c.(7675-7677)Tat>Cat	p.Y2559H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2559					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGACACTCTGTATTCCATCAT	0.318													41	115					0	0	0	0	C	48318466	T	C	48318466	3	2	408	1	0	0	0	0	1	0	0	0	31	1638	57	5	7574	5	ABCA13	7	48318466	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	527	48318466	110820197	1484	79302											
ABCA13	154664	broad.mit.edu	37	chr7	48318628	48318628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttatatatcatcaaactctGatattttcagtatgtcacct	12	17	3	9	0	5	1	4	1	1	0	5	1	5	1	1	0	1	1	1	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48318628G>A	ENST00000435803.1	+	18	7861	c.7837G>A	c.(7837-7839)Gat>Aat	p.D2613N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2613					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCAAACTCTGATATTTTCAG	0.318													5	37					0	0	0	0	A	48318628	G	A	48318628	3	1	408	1	0	0	0	0	1	0	0	0	31	1290	45	2	7736	2	ABCA13	7	48318628	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	162	48318628	110820035	1485	79303											
ABCA13	154664	broad.mit.edu	37	chr7	48467465	48467465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacaggacatctgtctggcTactgtaagtacagaatggct	11	11	10	9	0	2	1	0	0	2	1	2	2	2	2	0	3	3	4	0	3	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48467465T>C	ENST00000435803.1	+	42	12586	c.12562T>C	c.(12562-12564)Tac>Cac	p.Y4188H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4188					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGTCTGGCTACTGTAAGTA	0.448													5	25					0	0	0	0	C	48467465	T	C	48467465	3	2	408	1	0	0	0	0	1	0	0	0	31	1522	53	5	12557	5	ABCA13	7	48467465	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	148837	48467465	110671198	1486	79304											
IKZF1	10320	broad.mit.edu	37	chr7	50450322	50450322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcacatcaagctgcattccgGggagaagcccttcaaatgcc	11	7	10	13	1	2	1	2	0	0	1	3	2	3	1	3	2	4	3	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:50450322G>A	ENST00000331340.3	+	5	661	c.506G>A	c.(505-507)gGg>gAg	p.G169E	IKZF1_ENST00000439701.1_Missense_Mutation_p.G169E|IKZF1_ENST00000440768.2_Missense_Mutation_p.G169E|IKZF1_ENST00000343574.5_Missense_Mutation_p.G82E|IKZF1_ENST00000359197.5_Missense_Mutation_p.G169E|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G169E|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.G82E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	169					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTGCATTCCGGGGAGAAGCCC	0.642			"D,T"	BCL6	"ALL, DLBCL"								6	14					0	0	0	0	A	50450322	G	A	50450322	3	1	408	1	0	0	0	0	1	0	0	0	7667	1232	43	4	520	4	IKZF1	7	50450322	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1982857	50450322	108688341	1487	79305											
EGFR	1956	broad.mit.edu	37	chr7	55238214	55238214	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttctgcatctgtgatcAtcacggcctcctcctgccac	5	11	8	17	1	4	1	2	1	2	0	6	1	6	1	5	2	2	1	5	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:55238214A>T	ENST00000344576.2	+	16	2340	c.2095A>T	c.(2095-2097)Atc>Ttc	p.I699F	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000455089.1_Intron	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	epidermal growth factor receptor	0	Important for dimerization, phosphorylation and activation.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATCTGTGATCATCACGGCCTC	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			39	100					0	0	0	0	T	55238214	A	T	55238214	3	4	408	1	0	0	0	0	1	0	0	0	5003	217	8	5	2179	5	EGFR	7	55238214	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4787892	55238214	103900449	1488	79306											
LANCL2	55915	broad.mit.edu	37	chr7	55467744	55467744	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttatctgtatgccttactgTacctgaacacagagataggt	11	13	9	8	0	1	2	0	1	1	1	1	3	1	2	2	1	4	3	2	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:55467744T>A	ENST00000254770.2	+	4	1203	c.625T>A	c.(625-627)Tac>Aac	p.Y209N	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	209					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TGCCTTACTGTACCTGAACAC	0.483													36	104					0	0	0	0	A	55467744	T	A	55467744	3	1	408	1	0	0	0	0	1	0	0	0	8674	1638	57	5	639	5	LANCL2	7	55467744	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	229530	55467744	103670919	1489	79307											
PHKG1	5260	broad.mit.edu	37	chr7	56148943	56148943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacaggcttcacccggCggtactggtagtagatccgc	7	8	14	12	3	2	1	2	0	0	1	3	1	3	1	2	5	1	4	2	5	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:56148943C>T	ENST00000452681.2	-	11	1213	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	PHKG1_ENST00000537360.1_Missense_Mutation_p.R269H|PHKG1_ENST00000297373.2_Missense_Mutation_p.R323H	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	323	Calmodulin-binding (domain-C).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCACCCGGCGGTACTGGTA	0.667													17	31					0	0	0	0	T	56148943	C	T	56148943	3	4	408	1	0	0	0	0	1	0	0	0	11918	768	27	1	199	1	PHKG1	7	56148943	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	681199	56148943	102989720	1490	79308											
CHCHD2	51142	broad.mit.edu	37	chr7	56171984	56171984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagcccccagtaatggCgtgacccaatgtgtgcccca	10	7	10	14	1	0	2	0	2	0	0	0	2	0	2	5	1	2	1	5	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:56171984C>T	ENST00000395422.3	-	2	397	c.235G>A	c.(235-237)Gcc>Acc	p.A79T		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	79						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCAGTAATGGCGTGACCCAAT	0.602													31	83					0	0	0	0	T	56171984	C	T	56171984	3	4	408	1	0	0	0	0	1	0	0	0	3345	768	27	1	232	1	CHCHD2	7	56171984	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	23041	56171984	102966679	1491	79309											
ZNF716	441234	broad.mit.edu	37	chr7	57528841	57528841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcaaatcctttaactgctCttcaacccttactagacata	12	13	4	12	0	2	1	1	0	1	1	3	1	3	1	2	1	4	2	2	1	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:57528841C>T	ENST00000420713.1	+	4	786	c.674C>T	c.(673-675)tCt>tTt	p.S225F		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTAACTGCTCTTCAACCCTT	0.378													4	27					0	0	0	0	T	57528841	C	T	57528841	3	4	408	1	0	0	0	0	1	0	0	0	18214	913	32	2	688	2	ZNF716	7	57528841	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1356857	57528841	101609822	1492	79310											
ZNF92	168374	broad.mit.edu	37	chr7	64853808	64853808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatgagatggtagacaaaAccccaggtaggtgacagtta	15	7	12	7	0	0	3	0	2	0	2	0	5	0	3	2	3	1	3	2	3	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:64853808A>G	ENST00000328747.7	+	3	419	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	ZNF92_ENST00000450302.2_Missense_Mutation_p.T5A|ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000357512.2_Intron	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	74	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GGTAGACAAAACCCCAGGTAG	0.438													5	132					0	0	0	0	G	64853808	A	G	64853808	3	3	408	1	0	0	0	0	1	0	0	0	18294	43	2	5	230	5	ZNF92	7	64853808	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7324967	64853808	94284855	1493	79311											
GUSB	2990	broad.mit.edu	37	chr7	65444432	65444432	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgatgtcatcgatgtaGgtggtgggtgtcgtgtacag	7	12	17	5	3	1	1	1	1	0	0	3	2	1	1	0	4	1	2	0	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:65444432G>T	ENST00000304895.4	-	4	808	c.678C>A	c.(676-678)acC>acA	p.T226T	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.T226T|GUSB_ENST00000421103.1_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	226					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CATCGATGTAGGTGGTGGGTG	0.527													11	117					6.40141e-05	6.51258e-05	1	0	T	65444432	G	T	65444432	2	4	408	1	0	0	0	0	0	0	0	1	6952	987	35	4		4	GUSB	7	65444432	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	590624	65444432	93694231	1494	79312											
STAG3L4	64940	broad.mit.edu	37	chr7	66767852	66767852	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggagcggcggcccagcgCccggcgttggccacctacag	6	3	16	16	5	0	0	0	0	0	0	0	1	0	1	4	5	3	2	4	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:66767852C>T	ENST00000416602.2	+	0	245					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CGGCCCAGCGCCCGGCGTTGG	0.726													6	9					0	0	0	0	T	66767852	C	T	66767852	1	4	408	0	1	0	0	0	0	0	0	0	15337	754	26	4		4	STAG3L4	7	66767852	RNA	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1323420	66767852	92370811	1495	79313											
TYW1B	441250	broad.mit.edu	37	chr7	72209691	72209691	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtaaccatgaatactcctActagtatctgcacgacgcag	12	10	7	12	3	1	1	0	1	1	0	3	2	2	1	2	0	4	4	2	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72209691A>G	ENST00000438125.1	-	0	577							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAATACTCCTACTAGTATCTG	0.368													6	5					0	0	0	0	G	72209691	A	G	72209691	1	3	408	0	1	0	0	0	0	0	0	0	16915	406	14	5		5	TYW1B	7	72209691	RNA	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5441839	72209691	86928972	1496	79314											
TYW1B	441250	broad.mit.edu	37	chr7	72236591	72236591	+	RNA	DEL	A	A	-																															catactgaataaaaacaaacAaaaaaaacctgcaaagcttc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72236591delA	ENST00000438125.1	-	0	577							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AAAAACAAACAAAAAAAACCT	0.333													8	25	---	---	---	---					-	72236591	A	-	72236591	6	5	408	0	1	1	0	1	0	0	0	0	16915	145	5	0		0	TYW1B	7	72236591	RNA	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	26900	72236591	86902072	1497	79315											
TYW1B	441250	broad.mit.edu	37	chr7	72267523	72267523	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcttcactggagctctcGaagggttcttcctcctggaa	6	14	9	12	1	5	0	1	0	4	0	8	3	7	2	2	3	1	2	2	3	2	4	rs138229913	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72267523G>A	ENST00000438125.1	-	0	350							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TGGAGCTCTCGAAGGGTTCTT	0.448													4	82					0	0	0	0	A	72267523	G	A	72267523	1	1	408	0	1	0	0	0	0	0	0	0	16915	1049	37	1		1	TYW1B	7	72267523	RNA	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	30932	72267523	86871140	1498	79316											
POM121	9883	broad.mit.edu	37	chr7	72413274	72413274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacggccaccagcagcagCgctgccgactttagtggttt	8	8	11	14	3	0	0	0	0	0	0	0	1	0	0	4	2	5	4	4	2	2	3	rs148530018	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72413274C>T	ENST00000395270.1	+	14	2988	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	POM121_ENST00000358357.3_Silent_p.S649S|POM121_ENST00000434423.2_Silent_p.S914S|POM121_ENST00000446813.1_Silent_p.S649S|POM121_ENST00000257622.4_Silent_p.S649S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	914	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCAGCAGCAGCGCTGCCGACT	0.627													49	151					0	0	0	0	T	72413274	C	T	72413274	2	4	408	1	0	0	0	0	0	0	0	1	12311	767	27	1		1	POM121	7	72413274	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	145751	72413274	86725389	1499	79317											
FZD9	8326	broad.mit.edu	37	chr7	72849113	72849113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgctggagccccaccGcttccagtaccccgagcgcc	5	8	9	19	3	1	0	0	0	1	0	2	2	2	1	7	1	4	3	7	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72849113G>A	ENST00000344575.3	+	1	1005	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	259					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCCCCACCGCTTCCAGTAC	0.637													5	234					0	0	0	0	A	72849113	G	A	72849113	3	1	408	1	0	0	0	0	1	0	0	0	6185	1087	38	1	778	1	FZD9	7	72849113	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	435839	72849113	86289550	1500	79318											
VPS37D	155382	broad.mit.edu	37	chr7	73085543	73085543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttcccggctgcagctgTcctgcccactggggccgccc	3	8	11	19	2	0	0	0	0	0	0	3	0	3	0	6	3	3	3	6	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73085543T>C	ENST00000324941.4	+	4	727	c.593T>C	c.(592-594)gTc>gCc	p.V198A	VPS37D_ENST00000451519.1_Missense_Mutation_p.V113A	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	198					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGCAGCTGTCCTGCCCACT	0.741													3	18					0	0	0	0	C	73085543	T	C	73085543	3	2	408	1	0	0	0	0	1	0	0	0	17304	1667	58	5	607	5	VPS37D	7	73085543	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	236430	73085543	86053120	1501	79319											
ABHD11	83451	broad.mit.edu	37	chr7	73151274	73151274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactgcacgaactgggagTttccaccaaggagaaagagt	13	8	11	9	1	0	2	0	0	0	2	1	5	1	3	2	2	3	2	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73151274T>C	ENST00000222800.3	-	5	869	c.800A>G	c.(799-801)aAc>aGc	p.N267S	ABHD11_ENST00000437775.2_Missense_Mutation_p.N260S|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Missense_Mutation_p.N210S	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	267							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAACTGGGAGTTTCCACCAAG	0.592													4	257					0	0	0	0	C	73151274	T	C	73151274	3	2	408	1	0	0	0	0	1	0	0	0	75	1725	60	5	155	5	ABHD11	7	73151274	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	65731	73151274	85987389	1502	79320											
WBSCR27	155368	broad.mit.edu	37	chr7	73254873	73254873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctggaggaagcctggagCccgcagctggggtaggggtg	7	5	20	9	1	0	0	0	0	0	0	0	3	0	3	2	7	4	4	2	7	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73254873C>T	ENST00000297873.4	-	4	308	c.259G>A	c.(259-261)Gct>Act	p.A87T		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	87										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				AAGCCTGGAGCCCGCAGCTGG	0.662													10	24					0	0	0	0	T	73254873	C	T	73254873	3	4	408	1	0	0	0	0	1	0	0	0	17362	739	26	4	490	4	WBSCR27	7	73254873	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	103599	73254873	85883790	1503	79321											
LAT2	7462	broad.mit.edu	37	chr7	73638350	73638350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctccctctctgcaggtGcccagcaggagggcataggt	7	10	12	12	0	2	0	0	0	2	0	4	1	2	1	2	4	3	3	2	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73638350G>A	ENST00000460943.1	+	12	1340	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	LAT2_ENST00000275635.7_Missense_Mutation_p.A151T|LAT2_ENST00000344995.5_Missense_Mutation_p.A151T|LAT2_ENST00000398475.1_Missense_Mutation_p.A151T	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	151					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTCTGCAGGTGCCCAGCAGGA	0.637													9	21					0	0	0	0	A	73638350	G	A	73638350	3	1	408	1	0	0	0	0	1	0	0	0	8698	1319	46	4	489	4	LAT2	7	73638350	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	383477	73638350	85500313	1504	79322											
CLIP2	7461	broad.mit.edu	37	chr7	73811420	73811420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagcctgaacgaactgCgggtgttgctgctggaggcc	7	7	16	11	2	0	1	0	1	0	0	0	4	0	3	3	4	6	3	3	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73811420C>T	ENST00000223398.6	+	14	3064	c.2737C>T	c.(2737-2739)Cgg>Tgg	p.R913W	CLIP2_ENST00000395060.1_Missense_Mutation_p.R913W|CLIP2_ENST00000361545.5_Missense_Mutation_p.R878W	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	913						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAACGAACTGCGGGTGTTGCT	0.617													30	64					0	0	0	0	T	73811420	C	T	73811420	3	4	408	1	0	0	0	0	1	0	0	0	3563	759	27	1	2787	1	CLIP2	7	73811420	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	173070	73811420	85327243	1505	79323											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73973362	73973362	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgacaagatcaagtTcacagtcaccaggtactcag	12	9	10	10	0	4	2	4	1	0	1	4	2	4	2	1	2	1	3	1	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73973362T>C	ENST00000476977.1	+	21	3970	c.2279T>C	c.(2278-2280)tTc>tCc	p.F760S	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.F775S|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.F760S|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.F792S			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	775						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			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						AAGATCAAGTTCACAGTCACC	0.567													6	88					0	0	0	0	C	73973362	T	C	73973362	3	2	408	1	0	0	0	0	1	0	0	0	6918	1783	62	5	2402	5	GTF2IRD1	7	73973362	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	161942	73973362	85165301	1506	79324											
GTF2I	2969	broad.mit.edu	37	chr7	74113333	74113333	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagagatgcataaaatgaAatctacaacccaggcaaatc	18	7	7	9	0	1	2	0	1	1	1	2	3	1	2	1	1	4	3	1	1	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:74113333A>C	ENST00000324896.4	+	4	670	c.281A>C	c.(280-282)aAa>aCa	p.K94T	GTF2I_ENST00000416070.1_Missense_Mutation_p.K94T|GTF2I_ENST00000443166.1_Missense_Mutation_p.K94T|GTF2I_ENST00000353920.4_Missense_Mutation_p.K94T|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.K94T	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	94					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CATAAAATGAAATCTACAACC	0.313													3	8					0	0	0	0	C	74113333	A	C	74113333	3	2	408	1	0	0	0	0	1	0	0	0	6917	14	1	5	291	5	GTF2I	7	74113333	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	139971	74113333	85025330	1507	79325											
NCF1	653361	broad.mit.edu	37	chr7	74197366	74197366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagatggctctgtccaCgggggacgtggtggaggtcg	5	8	18	10	4	1	1	0	0	1	1	4	4	3	3	2	6	0	1	2	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:74197366C>T	ENST00000289473.4	+	6	606	c.536C>T	c.(535-537)aCg>aTg	p.T179M	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	179	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						GCTCTGTCCACGGGGGACGTG	0.637													19	40					0	0	0	0	T	74197366	C	T	74197366	3	4	408	1	0	0	0	0	1	0	0	0	10286	536	19	1	558	1	NCF1	7	74197366	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	84033	74197366	84941297	1508	79326											
SRRM3	222183	broad.mit.edu	37	chr7	75889305	75889305	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgacgacggcccagtGgactgtgactgcccggcctc	7	6	14	14	4	0	2	0	2	0	0	1	6	0	3	3	3	1	0	3	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:75889305G>T	ENST00000388802.4	+	4	626	c.417G>T	c.(415-417)gtG>gtT	p.V139V	SRRM3_ENST00000326382.8_Silent_p.V139V					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						ACGGCCCAGTGGACTGTGACT	0.771													7	9					0.000157383	0.00015972	1	0	T	75889305	G	T	75889305	2	4	408	1	0	0	0	0	0	0	0	1	15260	1335	47	4		4	SRRM3	7	75889305	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1691939	75889305	83249358	1509	79327											
DTX2	113878	broad.mit.edu	37	chr7	76112069	76112069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttccagcttctgccgcagCgtgcggcgccaagcagggcc	6	6	13	16	4	1	0	0	0	1	0	2	0	2	0	4	2	5	3	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:76112069C>T	ENST00000324432.5	+	5	1023	c.513C>T	c.(511-513)agC>agT	p.S171S	DTX2_ENST00000446600.1_Silent_p.S80S|DTX2_ENST00000307569.8_Silent_p.S171S|DTX2_ENST00000413936.2_Silent_p.S171S|DTX2_ENST00000446820.2_Silent_p.S171S|DTX2_ENST00000430490.2_Silent_p.S171S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	171	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.S171S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCTGCCGCAGCGTGCGGCGCC	0.652													23	52					0	0	0	0	T	76112069	C	T	76112069	2	4	408	1	0	0	0	0	0	0	0	1	4830	767	27	1		1	DTX2	7	76112069	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	222764	76112069	83026594	1510	79328											
RSBN1L	222194	broad.mit.edu	37	chr7	77379267	77379267	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcatggggcagctacttaTttacctgactttttagacta	9	16	8	8	0	1	2	1	1	0	1	1	2	1	2	1	2	3	3	1	2	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:77379267T>A	ENST00000334955.7	+	3	1257	c.1230T>A	c.(1228-1230)taT>taA	p.Y410*	RSBN1L_ENST00000445288.1_Nonsense_Mutation_p.Y140*	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	410						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCTACTTATTTACCTGACT	0.378													40	146					0	0	0	0	A	77379267	T	A	77379267	4	1	408	1	0	0	0	0	0	1	0	0	13782	1500	52	5	1240	5	RSBN1L	7	77379267	Nonsense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1267198	77379267	81759396	1511	79329											
MAGI2	9863	broad.mit.edu	37	chr7	78119086	78119086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaataacctaccattttctTtgcactcttctggaggttta	9	18	5	9	0	3	0	0	0	3	0	3	1	3	1	2	2	3	2	2	2	4	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:78119086T>C	ENST00000354212.4	-	6	1290	c.1037A>G	c.(1036-1038)aAa>aGa	p.K346R	MAGI2_ENST00000536571.1_Missense_Mutation_p.K178R|MAGI2_ENST00000522391.1_Missense_Mutation_p.K346R|MAGI2_ENST00000535697.1_Missense_Mutation_p.K183R|MAGI2_ENST00000419488.1_Missense_Mutation_p.K346R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	346	Interaction with DDN.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACCATTTTCTTTGCACTCTTC	0.388													6	203					0	0	0	0	C	78119086	T	C	78119086	3	2	408	1	0	0	0	0	1	0	0	0	9260	1841	64	5	3398	5	MAGI2	7	78119086	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	739819	78119086	81019577	1512	79330											
GNAT3	346562	broad.mit.edu	37	chr7	80091946	80091946	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccacctacatcaaacaTcctttaagaaaacatcaaat	17	10	2	12	0	2	1	2	0	0	1	4	1	4	1	3	0	3	0	3	0	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:80091946T>C	ENST00000398291.3	-	6	685	c.590_splice	c.e6-1	p.M198_splice	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	198					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACATCAAACATCCTTTAAGAA	0.358													10	40					0	0	0	0	C	80091946	T	C	80091946	5	2	408	1	0	0	0	0	0	0	1	0	6564	1449	50	5	482	5	GNAT3	7	80091946	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1972860	80091946	79046717	1513	79331											
SEMA3C	10512	broad.mit.edu	37	chr7	80546021	80546021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttaaataaactcttgctTggggctgggaagatcctttc	10	14	10	7	0	1	1	0	0	1	1	3	2	2	2	1	3	2	3	1	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:80546021T>C	ENST00000265361.3	-	2	638	c.77A>G	c.(76-78)cAa>cGa	p.Q26R	SEMA3C_ENST00000419255.2_Missense_Mutation_p.Q26R|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Q44R|SEMA3C_ENST00000536800.1_5'UTR	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	26					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACTCTTGCTTGGGGCTGGGA	0.343													27	61					0	0	0	0	C	80546021	T	C	80546021	3	2	408	1	0	0	0	0	1	0	0	0	14113	1812	63	5	2246	5	SEMA3C	7	80546021	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	454075	80546021	78592642	1514	79332											
CACNA2D1	781	broad.mit.edu	37	chr7	81978944	81978944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacaaggtcttcttgcatCttatccacccatgatttgat	9	15	7	10	0	3	3	0	3	3	0	4	3	4	3	2	1	1	1	2	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:81978944C>T	ENST00000356860.3	-	2	455	c.117G>A	c.(115-117)aaG>aaA	p.K39K	CACNA2D1_ENST00000356253.5_Silent_p.K39K|CACNA2D1_ENST00000423588.1_Silent_p.K39K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	39						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTTCTTGCATCTTATCCACCC	0.363													15	85					0	0	0	0	T	81978944	C	T	81978944	2	4	408	1	0	0	0	0	0	0	0	1	2573	912	32	2		2	CACNA2D1	7	81978944	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1432923	81978944	77159719	1515	79333											
GRM3	2913	broad.mit.edu	37	chr7	86416334	86416334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctttgcacaaaatgcagcGcaccctctgtcccaacacta	11	8	6	16	2	1	0	0	0	1	0	2	0	2	0	2	0	4	4	2	0	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:86416334G>A	ENST00000361669.2	+	3	2325	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRM3_ENST00000439827.1_Missense_Mutation_p.R409H|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R407H|GRM3_ENST00000536043.1_Missense_Mutation_p.R281H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	409					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAAATGCAGCGCACCCTCTGT	0.498													63	145					0	0	0	0	A	86416334	G	A	86416334	3	1	408	1	0	0	0	0	1	0	0	0	6848	1087	38	1	1232	1	GRM3	7	86416334	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4437390	86416334	72722329	1516	79334											
DBF4	10926	broad.mit.edu	37	chr7	87507395	87507395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagtcaaaaatgaaaaaaAcagaccatctctgaaatctc	20	7	4	10	0	3	3	1	2	2	1	5	3	3	3	2	0	1	0	2	0	7	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:87507395A>G	ENST00000265728.1	+	2	578	c.74A>G	c.(73-75)aAc>aGc	p.N25S		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	25					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AATGAAAAAAACAGACCATCT	0.308													47	162					0	0	0	0	G	87507395	A	G	87507395	3	3	408	1	0	0	0	0	1	0	0	0	4281	43	2	5	80	5	DBF4	7	87507395	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1091061	87507395	71631268	1517	79335											
SRI	6717	broad.mit.edu	37	chr7	87840218	87840218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccagcattgaaaccataagCcggcaagtctccaggttaaa	14	8	8	11	1	1	1	0	1	1	0	3	1	2	1	4	2	3	3	4	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:87840218C>T	ENST00000265729.2	-	4	280	c.228G>A	c.(226-228)cgG>cgA	p.R76R	SRI_ENST00000490437.1_Silent_p.R33R|SRI_ENST00000431660.1_Silent_p.R61R|SRI_ENST00000394641.3_Silent_p.R61R|SRI_ENST00000419179.1_Silent_p.R76R	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	76	EF-hand 2.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					AAACCATAAGCCGGCAAGTCT	0.284													4	41					0	0	0	0	T	87840218	C	T	87840218	2	4	408	1	0	0	0	0	0	0	0	1	15239	726	26	4		4	SRI	7	87840218	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	332823	87840218	71298445	1518	79336											
STEAP2	261729	broad.mit.edu	37	chr7	89856305	89856305	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttatatatgcagcaacaaTattcaagcgcgacaacaggt	15	10	8	8	2	1	0	1	0	0	0	1	1	1	0	0	1	5	3	0	1	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:89856305T>C	ENST00000287908.3	+	3	906	c.513T>C	c.(511-513)aaT>aaC	p.N171N	STEAP2_ENST00000394626.1_Silent_p.N171N|STEAP2_ENST00000394632.1_Silent_p.N171N|STEAP2_ENST00000394621.2_Silent_p.N171N|STEAP2_ENST00000394629.2_Silent_p.N171N|STEAP2_ENST00000394622.2_Silent_p.N171N|STEAP2_ENST00000402625.2_Silent_p.N171N	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	171					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GCAGCAACAATATTCAAGCGC	0.393													19	94					0	0	0	0	C	89856305	T	C	89856305	2	2	408	1	0	0	0	0	0	0	0	1	15368	1403	49	5		5	STEAP2	7	89856305	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2016087	89856305	69282358	1519	79337											
STEAP2	261729	broad.mit.edu	37	chr7	89856547	89856547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacttttacaaaattcctaTagagattgtgaataaaacct	16	14	5	6	0	0	3	0	2	0	1	1	4	1	3	2	0	2	0	2	0	8	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:89856547T>C	ENST00000287908.3	+	3	1148	c.755T>C	c.(754-756)aTa>aCa	p.I252T	STEAP2_ENST00000394626.1_Missense_Mutation_p.I252T|STEAP2_ENST00000394632.1_Missense_Mutation_p.I252T|STEAP2_ENST00000394621.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394629.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394622.2_Missense_Mutation_p.I252T|STEAP2_ENST00000402625.2_Missense_Mutation_p.I252T	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	252					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AAAATTCCTATAGAGATTGTG	0.383													15	70					0	0	0	0	C	89856547	T	C	89856547	3	2	408	1	0	0	0	0	1	0	0	0	15368	1406	49	5	761	5	STEAP2	7	89856547	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	242	89856547	69282116	1520	79338											
C7orf63	79846	broad.mit.edu	37	chr7	89927085	89927085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtattttgggatgttatCcctcagaggattattttctt	7	19	9	6	0	2	1	1	0	1	1	3	3	3	3	1	2	0	3	1	2	3	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:89927085C>T	ENST00000389297.4	+	16	2049	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S	C7orf63_ENST00000497910.1_Missense_Mutation_p.P582S|C7orf63_ENST00000316089.8_Missense_Mutation_p.P600S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	600							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GGGATGTTATCCCTCAGAGGA	0.289													14	66					0	0	0	0	T	89927085	C	T	89927085	3	4	408	1	0	0	0	0	1	0	0	0	2432	855	30	2	1860	2	C7orf63	7	89927085	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	70538	89927085	69211578	1521	79339											
AKAP9	10142	broad.mit.edu	37	chr7	91603150	91603150	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgatttgaatattgaTcaatcacagtgtaatgaaat	16	13	6	6	0	2	4	2	4	0	0	2	4	2	4	1	0	0	1	1	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:91603150T>A	ENST00000359028.2	+	3	435	c.210T>A	c.(208-210)gaT>gaA	p.D70E	AKAP9_ENST00000356239.3_Missense_Mutation_p.D58E|AKAP9_ENST00000394564.1_Missense_Mutation_p.D58E|AKAP9_ENST00000358100.2_Missense_Mutation_p.D70E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	70					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAATATTGATCAATCACAGT	0.368			T	BRAF	papillary thyroid								16	51					0	0	0	0	A	91603150	T	A	91603150	3	1	408	1	0	0	0	0	1	0	0	0	459	1432	50	5	180	5	AKAP9	7	91603150	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1676065	91603150	67535513	1522	79340											
KRIT1	889	broad.mit.edu	37	chr7	91870364	91870364	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttctactacgtaatccaAtatgccttgtgttatttcac	9	17	6	9	1	2	0	1	0	1	0	3	0	3	0	2	1	3	3	2	1	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:91870364A>G	ENST00000394507.1	-	6	988	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KRIT1_ENST00000394505.2_Silent_p.L69L|KRIT1_ENST00000394503.2_Silent_p.L69L|KRIT1_ENST00000340022.2_Silent_p.L69L|KRIT1_ENST00000412043.2_Silent_p.L69L	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	69					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACGTAATCCAATATGCCTTGT	0.338													6	88					0	0	0	0	G	91870364	A	G	91870364	2	3	408	1	0	0	0	0	0	0	0	1	8497	98	4	5		5	KRIT1	7	91870364	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	267214	91870364	67268299	1523	79341											
ANKIB1	54467	broad.mit.edu	37	chr7	91948721	91948721	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgattgtgctgaaaagcaAcaccacaaagatttggccct	13	10	9	9	0	0	3	0	2	0	1	0	3	0	3	2	1	3	2	2	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:91948721A>G	ENST00000265742.3	+	4	940	c.564A>G	c.(562-564)caA>caG	p.Q188Q		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	188							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAAAAGCAACACCACAAAG	0.368													3	75					0	0	0	0	G	91948721	A	G	91948721	2	3	408	1	0	0	0	0	0	0	0	1	630	40	2	5		5	ANKIB1	7	91948721	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	78357	91948721	67189942	1524	79342											
ANKIB1	54467	broad.mit.edu	37	chr7	91972488	91972488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactccaaggactacacgctCttctgtcacctccccagatg	10	9	6	16	1	3	1	1	0	2	1	5	2	5	2	4	1	2	1	4	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:91972488C>T	ENST00000265742.3	+	6	1314	c.938C>T	c.(937-939)tCt>tTt	p.S313F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	313							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACACGCTCTTCTGTCACC	0.473													5	67					0	0	0	0	T	91972488	C	T	91972488	3	4	408	1	0	0	0	0	1	0	0	0	630	913	32	2	956	2	ANKIB1	7	91972488	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	23767	91972488	67166175	1525	79343											
SAMD9L	219285	broad.mit.edu	37	chr7	92760603	92760603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaagacactctttctatgTtcctaccacttctgagtgga	11	13	7	10	0	3	3	0	1	3	2	4	4	4	4	2	1	1	1	2	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:92760603T>C	ENST00000318238.4	-	5	5898	c.4682A>G	c.(4681-4683)aAc>aGc	p.N1561S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1561S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1561S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1561										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTCTATGTTCCTACCACT	0.363													16	45					0	0	0	0	C	92760603	T	C	92760603	3	2	408	1	0	0	0	0	1	0	0	0	13912	1725	60	5	76	5	SAMD9L	7	92760603	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	788115	92760603	66378060	1526	79344											
SAMD9L	219285	broad.mit.edu	37	chr7	92761081	92761081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttttagcgtggtaagtgGttgaattaacttggagttgg	8	18	13	2	1	0	1	0	1	0	0	0	2	0	2	0	4	2	3	0	4	4	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:92761081G>A	ENST00000318238.4	-	5	5420	c.4204C>T	c.(4204-4206)Cca>Tca	p.P1402S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1402S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1402S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1402										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTGGTAAGTGGTTGAATTAAC	0.403													44	185					0	0	0	0	A	92761081	G	A	92761081	3	1	408	1	0	0	0	0	1	0	0	0	13912	1261	44	4	554	4	SAMD9L	7	92761081	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	478	92761081	66377582	1527	79345											
SGCE	8910	broad.mit.edu	37	chr7	94252690	94252690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttgcagtctcaaaggtgCgcctgttgtaggcagttatc	7	12	12	10	1	1	0	1	0	1	0	3	0	1	0	2	2	2	5	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:94252690C>T	ENST00000415788.2	-	5	605	c.518G>A	c.(517-519)cGc>cAc	p.R173H	SGCE_ENST00000445866.2_Missense_Mutation_p.R137H|SGCE_ENST00000265735.7_Missense_Mutation_p.R137H|SGCE_ENST00000437425.2_Missense_Mutation_p.R96H|SGCE_ENST00000428696.2_Missense_Mutation_p.R137H|SGCE_ENST00000447873.1_Missense_Mutation_p.R137H			O43556	SGCE_HUMAN	sarcoglycan, epsilon	137					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCAAAGGTGCGCCTGTTGTA	0.274													9	34					0	0	0	0	T	94252690	C	T	94252690	3	4	408	1	0	0	0	0	1	0	0	0	14289	768	27	1	1087	1	SGCE	7	94252690	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1491609	94252690	64885973	1528	79346											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539456	94539456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagtcttcaggtgaacgaAccactctcagaagtgcctct	10	10	9	12	1	4	3	2	2	3	1	5	4	4	3	2	1	3	0	2	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:94539456A>G	ENST00000289495.5	+	1	247	c.31A>G	c.(31-33)Acc>Gcc	p.T11A	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T11A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T11A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T11A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T11A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T11A	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	11	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGGTGAACGAACCACTCTCAG	0.408										HNSCC(28;0.073)			6	37					0	0	0	0	G	94539456	A	G	94539456	3	3	408	1	0	0	0	0	1	0	0	0	12454	43	2	5	33	5	PPP1R9A	7	94539456	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	286766	94539456	64599207	1529	79347											
ASB4	51666	broad.mit.edu	37	chr7	95115461	95115461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatatggttttggcatctTataaacaaggtaaaaacata	18	12	7	4	0	1	1	0	0	1	1	1	1	1	1	0	3	2	3	0	3	10	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:95115461T>C	ENST00000325885.5	+	1	249	c.178T>C	c.(178-180)Tat>Cat	p.Y60H	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Missense_Mutation_p.Y60H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	60					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTGGCATCTTATAAACAAGG	0.323													19	83					0	0	0	0	C	95115461	T	C	95115461	3	2	408	1	0	0	0	0	1	0	0	0	1029	1754	61	5	180	5	ASB4	7	95115461	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	576005	95115461	64023202	1530	79348											
SLC25A13	10165	broad.mit.edu	37	chr7	95799391	95799391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctgctgcaagtgggAccgaaccatctttgtgcata	10	12	10	9	1	2	0	0	0	2	0	2	3	2	1	2	1	4	3	2	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:95799391A>G	ENST00000416240.2	-	13	1470	c.1280T>C	c.(1279-1281)gTc>gCc	p.V427A	SLC25A13_ENST00000265631.5_Missense_Mutation_p.V426A|SLC25A13_ENST00000542654.1_Missense_Mutation_p.V318A	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	426					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGCAAGTGGGACCGAACCATC	0.353													35	139					0	0	0	0	G	95799391	A	G	95799391	3	3	408	1	0	0	0	0	1	0	0	0	14563	275	10	5	774	5	SLC25A13	7	95799391	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	683930	95799391	63339272	1531	79349											
SLC25A13	10165	broad.mit.edu	37	chr7	95822425	95822425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgtctcggaagtcgatgGctgtgactctcccagtccta	7	12	11	11	2	2	2	0	2	2	0	6	4	3	3	2	2	0	1	2	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:95822425G>A	ENST00000416240.2	-	6	729	c.539C>T	c.(538-540)gCc>gTc	p.A180V	SLC25A13_ENST00000265631.5_Missense_Mutation_p.A180V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.A72V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	180	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAAGTCGATGGCTGTGACTCT	0.438													24	75					0	0	0	0	A	95822425	G	A	95822425	3	1	408	1	0	0	0	0	1	0	0	0	14563	1203	42	4	1543	4	SLC25A13	7	95822425	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	23034	95822425	63316238	1532	79350											
DLX5	1749	broad.mit.edu	37	chr7	96650052	96650052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagagagcagcccatctaaTagagtgtcccggaggccagc	12	5	13	11	1	1	3	0	0	1	3	2	5	2	4	3	2	3	1	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:96650052T>C	ENST00000222598.4	-	3	1339	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	289					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCCCATCTAATAGAGTGTCCC	0.507													12	63					0	0	0	0	C	96650052	T	C	96650052	3	2	408	1	0	0	0	0	1	0	0	0	4611	1406	49	5	7	5	DLX5	7	96650052	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	827627	96650052	62488611	1533	79351											
LMTK2	22853	broad.mit.edu	37	chr7	97833441	97833441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggttctccatctctcccGccaacattgccagcttttcc	5	12	5	19	2	2	0	0	0	2	0	6	0	4	0	6	1	3	2	6	1	1	4	rs142965943		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:97833441G>A	ENST00000297293.5	+	13	4719	c.4426G>A	c.(4426-4428)Gcc>Acc	p.A1476T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1476				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CATCTCTCCCGCCAACATTGC	0.642													29	105					0	0	0	0	A	97833441	G	A	97833441	3	1	408	1	0	0	0	0	1	0	0	0	8914	1087	38	1	4476	1	LMTK2	7	97833441	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1183389	97833441	61305222	1534	79352											
TMEM130	222865	broad.mit.edu	37	chr7	98457952	98457952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgacaacaaggtcccccAcgaggaactctgggagagag	12	4	15	10	1	1	2	0	1	1	1	2	6	2	4	2	4	2	0	2	4	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:98457952A>G	ENST00000450876.1	-	3	1464	c.149T>C	c.(148-150)gTg>gCg	p.V50A	TMEM130_ENST00000345589.4_Missense_Mutation_p.V32A|TMEM130_ENST00000339375.4_Missense_Mutation_p.V134A|TMEM130_ENST00000416379.2_Missense_Mutation_p.V134A|TMEM130_ENST00000546258.1_Missense_Mutation_p.V115A			Q8N3G9	TM130_HUMAN	transmembrane protein 130	134						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGTCCCCCACGAGGAACTC	0.567													14	37					0	0	0	0	G	98457952	A	G	98457952	3	3	408	1	0	0	0	0	1	0	0	0	16137	159	6	5	930	5	TMEM130	7	98457952	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	624511	98457952	60680711	1535	79353											
TRRAP	8295	broad.mit.edu	37	chr7	98574264	98574264	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtacctggggaagacAcacaacctctggttccggtc	10	8	11	12	1	1	2	0	1	1	1	3	3	2	3	3	4	2	2	3	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:98574264A>G	ENST00000359863.4	+	54	8306	c.8097A>G	c.(8095-8097)acA>acG	p.T2699T	TRRAP_ENST00000446306.3_Silent_p.T2681T|TRRAP_ENST00000355540.3_Silent_p.T2681T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2699					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGGAAGACACACAACCTCT	0.557													7	100					0	0	0	0	G	98574264	A	G	98574264	2	3	408	1	0	0	0	0	0	0	0	1	16696	146	6	5		5	TRRAP	7	98574264	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	116312	98574264	60564399	1536	79354											
ARPC1A	10552	broad.mit.edu	37	chr7	98951628	98951628	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatgtcagagtttggTggcagtggcactggtggctg	6	11	17	7	0	1	2	1	1	0	1	1	2	1	2	0	5	1	5	0	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:98951628T>C	ENST00000432884.2	+	8	917	c.456T>C	c.(454-456)ggT>ggC	p.G152G	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000262942.5_Silent_p.G199G			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	199					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CAGAGTTTGGTGGCAGTGGCA	0.582													6	152					0	0	0	0	C	98951628	T	C	98951628	2	2	408	1	0	0	0	0	0	0	0	1	973	1683	59	5		5	ARPC1A	7	98951628	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	377364	98951628	60187035	1537	79355											
PTCD1	26024	broad.mit.edu	37	chr7	99023101	99023101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggggctgaagcacagTcgcctcctccctgggcttca	6	8	12	15	1	1	1	1	1	0	0	4	1	3	1	3	3	1	3	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99023101T>C	ENST00000292478.4	-	6	1304	c.1054A>G	c.(1054-1056)Act>Gct	p.T352A	PTCD1_ENST00000555673.1_Missense_Mutation_p.T401A|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T401A	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGAAGCACAGTCGCCTCCTCC	0.657													14	53					0	0	0	0	C	99023101	T	C	99023101	3	2	408	1	0	0	0	0	1	0	0	0	12806	1667	58	5	1060	5	PTCD1	7	99023101	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	71473	99023101	60115562	1538	79356											
PTCD1	26024	broad.mit.edu	37	chr7	99023173	99023173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggccacagtcccgagctgCcaccaacagcaggttgtagc	10	6	11	14	1	0	0	0	0	0	0	1	1	1	0	4	2	5	4	4	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99023173C>T	ENST00000292478.4	-	6	1232	c.982G>A	c.(982-984)Gca>Aca	p.A328T	PTCD1_ENST00000555673.1_Missense_Mutation_p.A377T|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A377T	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCGAGCTGCCACCAACAGC	0.642													14	33					0	0	0	0	T	99023173	C	T	99023173	3	4	408	1	0	0	0	0	1	0	0	0	12806	739	26	4	1132	4	PTCD1	7	99023173	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	72	99023173	60115490	1539	79357											
TAF6	6878	broad.mit.edu	37	chr7	99705144	99705144	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtgcggtggtggcggTggagaccaacttgacgatgg	6	7	22	6	3	0	2	0	1	0	1	0	4	0	2	1	9	2	0	1	9	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99705144T>C	ENST00000344095.4	-	15	2284	c.1759A>G	c.(1759-1761)Acc>Gcc	p.T587A	TAF6_ENST00000437822.2_Missense_Mutation_p.T624A|TAF6_ENST00000472509.1_Missense_Mutation_p.T644A|TAF6_ENST00000452041.1_Missense_Mutation_p.T587A|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.T587A|TAF6_ENST00000418432.2_Missense_Mutation_p.T511A	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	587					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGTGGCGGTGGAGACCAAC	0.662													45	127					0	0	0	0	C	99705144	T	C	99705144	3	2	408	1	0	0	0	0	1	0	0	0	15621	1696	59	5	278	5	TAF6	7	99705144	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	681971	99705144	59433519	1540	79358											
TAF6	6878	broad.mit.edu	37	chr7	99711975	99711975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggaggacagtggagacagGggaggaactccgagtgtctt	11	6	18	6	1	1	1	0	0	1	1	2	7	2	5	1	6	1	0	1	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99711975G>T	ENST00000472509.1	-	1	206	c.29C>A	c.(28-30)cCc>cAc	p.P10H	TAF6_ENST00000497233.1_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000418432.2_Intron			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	0					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGAGACAGGGGAGGAACTC	0.567													5	6					0.000602214	0.000609374	1	0	T	99711975	G	T	99711975	3	4	408	1	0	0	0	0	1	0	0	0	15621	1247	43	4		4	TAF6	7	99711975	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6831	99711975	59426688	1541	79359											
CNPY4	245812	broad.mit.edu	37	chr7	99722182	99722182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacattgtgggagactggTacttccaccatcaggagcag	12	8	12	9	0	1	2	1	0	0	2	2	4	2	3	2	3	2	2	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99722182T>C	ENST00000262932.3	+	5	643	c.511T>C	c.(511-513)Tac>Cac	p.Y171H	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	171	Glu-rich.					extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGAGACTGGTACTTCCACCA	0.507													27	77					0	0	0	0	C	99722182	T	C	99722182	3	2	408	1	0	0	0	0	1	0	0	0	3660	1638	57	5	529	5	CNPY4	7	99722182	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	10207	99722182	59416481	1542	79360											
GPC2	221914	broad.mit.edu	37	chr7	99769416	99769416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaccagccggtgcaggtTggtgcctgcggccgtcgtgg	4	7	17	13	5	0	0	0	0	0	0	1	0	0	0	4	5	4	3	4	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99769416T>C	ENST00000292377.2	-	7	1323	c.1156A>G	c.(1156-1158)Aac>Gac	p.N386D	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	386						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGTGCAGGTTGGTGCCTGCG	0.771													7	10					0	0	0	0	C	99769416	T	C	99769416	3	2	408	1	0	0	0	0	1	0	0	0	6647	1812	63	5	599	5	GPC2	7	99769416	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	47234	99769416	59369247	1543	79361											
TSC22D4	81628	broad.mit.edu	37	chr7	100065214	100065214	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaatgccaaccaggctTccggagccactggagagaca	11	7	11	12	1	1	1	1	0	0	1	2	4	2	3	4	3	3	1	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100065214T>C	ENST00000300181.2	-	4	1693	c.939A>G	c.(937-939)ggA>ggG	p.G313G	TSC22D4_ENST00000393991.1_Silent_p.G74G|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	313					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			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)					CAACCAGGCTTCCGGAGCCAC	0.602													19	68					0	0	0	0	C	100065214	T	C	100065214	2	2	408	1	0	0	0	0	0	0	0	1	16705	1770	62	5		5	TSC22D4	7	100065214	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	295798	100065214	59073449	1544	79362											
ACTL6B	51412	broad.mit.edu	37	chr7	100244703	100244703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgggcatttgtgcaGccaccctacccagaagggag	9	7	13	12	0	0	1	0	0	0	1	0	2	0	2	3	2	3	3	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100244703G>A	ENST00000160382.5	-	10	933	c.827C>T	c.(826-828)gCt>gTt	p.A276V		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	276					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CATTTGTGCAGCCACCCTACC	0.627													18	56					0	0	0	0	A	100244703	G	A	100244703	3	1	408	1	0	0	0	0	1	0	0	0	199	971	34	4	473	4	ACTL6B	7	100244703	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	179489	100244703	58893960	1545	79363											
GIGYF1	64599	broad.mit.edu	37	chr7	100279806	100279806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggaacggatataatcGtggacatcatagggggattc	13	8	14	6	2	1	0	1	0	0	0	3	4	1	4	0	6	1	1	0	6	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100279806G>A	ENST00000275732.5	-	22	4023	c.2814C>T	c.(2812-2814)caC>caT	p.H938H		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	938										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGATATAATCGTGGACATCAT	0.597													41	121					0	0	0	0	A	100279806	G	A	100279806	2	1	408	1	0	0	0	0	0	0	0	1	6428	1136	40	1		1	GIGYF1	7	100279806	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	35103	100279806	58858857	1546	79364											
EPHB4	2050	broad.mit.edu	37	chr7	100410812	100410812	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcataagtgaaggggTcgatgtagaccttagtacct	10	12	12	7	1	2	2	1	1	1	1	3	3	2	2	2	3	1	2	2	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100410812T>G	ENST00000358173.3	-	11	2243	c.1775A>C	c.(1774-1776)gAc>gCc	p.D592A	EPHB4_ENST00000360620.3_Missense_Mutation_p.D592A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	592					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGTGAAGGGGTCGATGTAGAC	0.507													9	65					0	0	0	0	G	100410812	T	G	100410812	3	3	408	1	0	0	0	0	1	0	0	0	5215	1667	58	5	1216	5	EPHB4	7	100410812	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	131006	100410812	58727851	1547	79365											
TRIP6	7205	broad.mit.edu	37	chr7	100468203	100468203	+	Silent	SNP	T	T	C																															tccctgtcctcaggccagtgTggtggctgcggagaagatgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100468203T>C	ENST00000200457.4	+	6	1197	c.837T>C	c.(835-837)tgT>tgC	p.C279C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	279	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGGCCAGTGTGGTGGCTGCG	0.612													7	94					0	0	0	0	C	100468203	T	C	100468203	2	2	408	1	0	0	0	0	0	0	0	1	16654	1702	59	5		5	TRIP6	7	100468203	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	57391	100468203	58670460	1548	79366	1042	2									
TRIP6	7205	broad.mit.edu	37	chr7	100468206	100468206	+	Silent	SNP	T	T	C																															ctgtcctcaggccagtgtggTggctgcggagaagatgtggt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100468206T>C	ENST00000200457.4	+	6	1200	c.840T>C	c.(838-840)ggT>ggC	p.G280G		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	280	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCAGTGTGGTGGCTGCGGAG	0.612													24	78					0	0	0	0	C	100468206	T	C	100468206	2	2	408	1	0	0	0	0	0	0	0	1	16654	1683	59	5		5	TRIP6	7	100468206	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3	100468206	58670457	1549	79367	1042	2									
MUC17	140453	broad.mit.edu	37	chr7	100675253	100675253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catataaggttgatatgagcAcacctctgaccacttctact	12	12	6	11	0	2	3	0	3	2	0	2	3	2	3	2	1	2	2	2	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100675253A>G	ENST00000306151.4	+	3	620	c.556A>G	c.(556-558)Aca>Gca	p.T186A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	186	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGATATGAGCACACCTCTGAC	0.428													83	264					0	0	0	0	G	100675253	A	G	100675253	3	3	408	1	0	0	0	0	1	0	0	0	10044	159	6	5	566	5	MUC17	7	100675253	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	207047	100675253	58463410	1550	79368											
MUC17	140453	broad.mit.edu	37	chr7	100678334	100678334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccagcatgccaacctcaActcctggagaaagaagcact	14	7	7	13	0	1	2	1	0	0	2	2	3	2	2	4	1	6	2	4	1	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100678334A>G	ENST00000306151.4	+	3	3701	c.3637A>G	c.(3637-3639)Act>Gct	p.T1213A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1213	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAACCTCAACTCCTGGAGA	0.512													157	734					0	0	0	0	G	100678334	A	G	100678334	3	3	408	1	0	0	0	0	1	0	0	0	10044	43	2	5	3647	5	MUC17	7	100678334	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3081	100678334	58460329	1551	79369											
MUC17	140453	broad.mit.edu	37	chr7	100678670	100678670	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctacacctgctgaaggtAccagcatgccaacctcaact	11	8	6	16	0	1	1	1	1	0	0	2	1	2	1	5	1	7	3	5	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100678670A>G	ENST00000306151.4	+	3	4037	c.3973A>G	c.(3973-3975)Acc>Gcc	p.T1325A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1325	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCTGAAGGTACCAGCATGCC	0.463													15	669					0	0	0	0	G	100678670	A	G	100678670	3	3	408	1	0	0	0	0	1	0	0	0	10044	391	14	5	3983	5	MUC17	7	100678670	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	336	100678670	58459993	1552	79370											
TRIM56	81844	broad.mit.edu	37	chr7	100732416	100732416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtggctgtcagcgtggCgggccacgtggaggtgtaca	5	7	18	11	5	1	0	1	0	0	0	1	1	1	1	2	5	2	2	2	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100732416C>T	ENST00000306085.6	+	3	2120	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	608					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCGTGGCGGGCCACGTG	0.701													56	132					0	0	0	0	T	100732416	C	T	100732416	3	4	408	1	0	0	0	0	1	0	0	0	16625	768	27	1	1825	1	TRIM56	7	100732416	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	53746	100732416	58406247	1553	79371											
AP1S1	1174	broad.mit.edu	37	chr7	100799968	100799968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaacggaagaagatggtgCgcgagctcatgcaggttgtc	11	7	16	7	3	1	2	1	0	0	2	2	5	1	4	0	4	4	3	0	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100799968C>T	ENST00000337619.5	+	2	215	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	33					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAGATGGTGCGCGAGCTCAT	0.542													9	20					0	0	0	0	T	100799968	C	T	100799968	3	4	408	1	0	0	0	0	1	0	0	0	737	768	27	1	103	1	AP1S1	7	100799968	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	67552	100799968	58338695	1554	79372											
CUX1	1523	broad.mit.edu	37	chr7	101833102	101833102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgttttcagcaactggaaGaaaaactcaaaggccaggct	14	9	9	9	0	3	1	2	0	1	1	3	2	3	2	1	3	3	3	1	3	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:101833102G>A	ENST00000360264.3	+	12	1080	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CUX1_ENST00000292535.7_Missense_Mutation_p.E343K|CUX1_ENST00000547394.2_Missense_Mutation_p.E338K|CUX1_ENST00000549414.2_Missense_Mutation_p.E343K|CUX1_ENST00000292538.4_Missense_Mutation_p.E354K|CUX1_ENST00000546411.2_Missense_Mutation_p.E343K|CUX1_ENST00000550008.2_Missense_Mutation_p.E343K|CUX1_ENST00000393824.3_Missense_Mutation_p.E315K|CUX1_ENST00000437600.4_Missense_Mutation_p.E352K|CUX1_ENST00000425244.2_Missense_Mutation_p.E308K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Missense_Mutation_p.E343K	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	343					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCAACTGGAAGAAAAACTCAA	0.537													12	40					0	0	0	0	A	101833102	G	A	101833102	3	1	408	1	0	0	0	0	1	0	0	0	4096	943	33	2	1140	2	CUX1	7	101833102	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1033134	101833102	57305561	1555	79373											
CUX1	1523	broad.mit.edu	37	chr7	101840288	101840288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccagatgtcaatggcatgGccccatcccccagccagtca	9	6	9	17	0	2	1	2	0	0	1	3	1	3	1	6	2	1	1	6	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:101840288G>C	ENST00000360264.3	+	15	1650	c.1630G>C	c.(1630-1632)Gcc>Ccc	p.A544P	CUX1_ENST00000292535.7_Missense_Mutation_p.A533P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.A533P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A431P|CUX1_ENST00000550008.2_Missense_Mutation_p.A533P|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A431P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	533					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAATGGCATGGCCCCATCCCC	0.522													7	157					0	0	0	0	C	101840288	G	C	101840288	3	2	408	1	0	0	0	0	1	0	0	0	4096	1203	42	4	1722	4	CUX1	7	101840288	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	7186	101840288	57298375	1556	79374											
CUX1	1523	broad.mit.edu	37	chr7	101840547	101840547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcctctccgatgagcagaAcatcctggccctccgtagca	8	9	9	15	2	1	2	0	1	1	1	5	3	4	2	5	1	3	4	5	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:101840547A>G	ENST00000360264.3	+	15	1909	c.1889A>G	c.(1888-1890)aAc>aGc	p.N630S	CUX1_ENST00000292535.7_Missense_Mutation_p.N619S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.N619S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.N517S|CUX1_ENST00000550008.2_Missense_Mutation_p.N619S|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.N517S	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	619					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GATGAGCAGAACATCCTGGCC	0.562													38	105					0	0	0	0	G	101840547	A	G	101840547	3	3	408	1	0	0	0	0	1	0	0	0	4096	43	2	5	1981	5	CUX1	7	101840547	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	259	101840547	57298116	1557	79375											
CUX1	1523	broad.mit.edu	37	chr7	101921271	101921271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagagtgagctggacAgcctgcgcgccgacaacatc	9	5	12	15	3	0	2	0	1	0	1	1	4	0	3	3	1	5	2	3	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:101921271A>G	ENST00000437600.4	+	18	1961	c.1609A>G	c.(1609-1611)Agc>Ggc	p.S537G	CUX1_ENST00000547394.2_Missense_Mutation_p.S523G|CUX1_ENST00000393824.3_Missense_Mutation_p.S500G|CUX1_ENST00000425244.2_Missense_Mutation_p.S493G|CUX1_ENST00000292538.4_Missense_Mutation_p.S539G|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	347					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAGCTGGACAGCCTGCGCGC	0.667													5	17					0	0	0	0	G	101921271	A	G	101921271	3	3	408	1	0	0	0	0	1	0	0	0	4096	188	7	5	5055	5	CUX1	7	101921271	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	80724	101921271	57217392	1558	79376											
RELN	5649	broad.mit.edu	37	chr7	103155699	103155699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggcatctgcaggggaGcgctcatgctggggtactgg	5	7	19	10	2	2	0	1	0	1	0	2	1	2	1	1	7	4	5	1	7	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:103155699G>A	ENST00000424685.2	-	50	8211	c.8052C>T	c.(8050-8052)cgC>cgT	p.R2684R	RELN_ENST00000343529.5_Silent_p.R2684R|RELN_ENST00000428762.1_Silent_p.R2684R			P78509	RELN_HUMAN	reelin	2684					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCAGGGGAGCGCTCATGCT	0.532													17	49					0	0	0	0	A	103155699	G	A	103155699	2	1	408	1	0	0	0	0	0	0	0	1	13302	958	34	4		4	RELN	7	103155699	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1234428	103155699	55982964	1559	79377											
RELN	5649	broad.mit.edu	37	chr7	103175892	103175892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccttaccaatgggtgcCatgacaatccaagatctact	12	10	7	12	0	1	2	0	1	1	1	3	2	3	2	4	1	3	0	4	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:103175892C>A	ENST00000424685.2	-	46	7379	c.7220G>T	c.(7219-7221)tGg>tTg	p.W2407L	RELN_ENST00000343529.5_Missense_Mutation_p.W2407L|RELN_ENST00000428762.1_Missense_Mutation_p.W2407L			P78509	RELN_HUMAN	reelin	2407					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAATGGGTGCCATGACAATCC	0.428													16	66					6.94344e-10	7.18556e-10	1	0	A	103175892	C	A	103175892	3	1	408	1	0	0	0	0	1	0	0	0	13302	595	21	4	3242	4	RELN	7	103175892	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	20193	103175892	55962771	1560	79378											
RINT1	60561	broad.mit.edu	37	chr7	105205728	105205728	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtgttttttccagatggTtgtccttgccatctcagtca	7	17	8	9	0	2	1	2	0	1	1	5	1	4	1	3	1	1	2	3	1	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:105205728T>C	ENST00000257700.2	+	13	2122	c.1891T>C	c.(1891-1893)Ttg>Ctg	p.L631L	EFCAB10_ENST00000485614.1_3'UTR|EFCAB10_ENST00000480514.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	631	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCAGATGGTTGTCCTTGCC	0.408													11	51					0	0	0	0	C	105205728	T	C	105205728	2	2	408	1	0	0	0	0	0	0	0	1	13461	1722	60	5		5	RINT1	7	105205728	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2029836	105205728	53932935	1561	79379											
NAMPT	10135	broad.mit.edu	37	chr7	105894879	105894879	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatctcttgtcaacttctgTagcaaacctccaccagaacc	12	10	5	14	0	3	2	1	0	2	2	5	2	4	2	4	0	4	2	4	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:105894879T>C	ENST00000222553.3	-	9	1468	c.1161A>G	c.(1159-1161)ctA>ctG	p.L387L		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	387					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCAACTTCTGTAGCAAACCTC	0.358													31	76					0	0	0	0	C	105894879	T	C	105894879	2	2	408	1	0	0	0	0	0	0	0	1	10219	1625	57	5		5	NAMPT	7	105894879	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	689151	105894879	53243784	1562	79380											
PIK3CG	5294	broad.mit.edu	37	chr7	106508498	106508498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggctatgacgtcactgaCgtcagcaacgtgcacgacga	11	8	11	11	5	2	2	2	2	0	0	2	4	2	2	0	1	3	3	0	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:106508498C>T	ENST00000359195.3	+	2	802	c.492C>T	c.(490-492)gaC>gaT	p.D164D	PIK3CG_ENST00000496166.1_Silent_p.D164D|PIK3CG_ENST00000440650.2_Silent_p.D164D	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	164					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			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						ACGTCACTGACGTCAGCAACG	0.682													5	37					0	0	0	0	T	106508498	C	T	106508498	2	4	408	1	0	0	0	0	0	0	0	1	11988	535	19	1		1	PIK3CG	7	106508498	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	613619	106508498	52630165	1563	79381											
PIK3CG	5294	broad.mit.edu	37	chr7	106508556	106508556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggcttggtgaccccgCgcatggcggaggtggccagc	4	6	18	13	4	0	1	0	1	0	0	0	2	0	2	4	6	1	2	4	6	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:106508556C>T	ENST00000359195.3	+	2	860	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R184C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R184C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	184					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			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						GGTGACCCCGCGCATGGCGGA	0.647													16	83					0	0	0	0	T	106508556	C	T	106508556	3	4	408	1	0	0	0	0	1	0	0	0	11988	768	27	1	552	1	PIK3CG	7	106508556	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	58	106508556	52630107	1564	79382											
GPR22	2845	broad.mit.edu	37	chr7	107115416	107115416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaaacgacaccgtgaacGacgagaaagacaaaagagag	19	3	12	7	4	0	5	0	2	0	3	0	9	0	5	1	0	2	0	1	0	5	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107115416G>A	ENST00000304402.4	+	3	2254	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	304						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CACCGTGAACGACGAGAAAGA	0.398													16	71					0	0	0	0	A	107115416	G	A	107115416	3	1	408	1	0	0	0	0	1	0	0	0	6731	1058	37	1	913	1	GPR22	7	107115416	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	606860	107115416	52023247	1565	79383											
SLC26A3	1811	broad.mit.edu	37	chr7	107432362	107432362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatagactgggggaatgtCgaccagcagagcaaatgcta	13	6	12	10	1	0	2	0	0	0	2	1	4	0	3	2	2	3	3	2	2	4	2	rs150004100		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107432362C>T	ENST00000340010.5	-	4	479	c.295G>A	c.(295-297)Gac>Aac	p.D99N	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D64N	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	99					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGGGGAATGTCGACCAGCAGA	0.448													17	56					0	0	0	0	T	107432362	C	T	107432362	3	4	408	1	0	0	0	0	1	0	0	0	14606	884	31	1	2071	1	SLC26A3	7	107432362	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	316946	107432362	51706301	1566	79384											
LAMB1	3912	broad.mit.edu	37	chr7	107576055	107576055	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcattcaccctctcctcTgcctcaagagacatctggaa	10	9	8	14	0	5	1	2	0	3	1	6	4	5	2	3	2	1	1	3	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107576055T>C	ENST00000393561.1	-	25	4249	c.4065A>G	c.(4063-4065)gcA>gcG	p.A1355A	LAMB1_ENST00000222399.6_Silent_p.A1331A|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1331	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTCTCCTCTGCCTCAAGAG	0.493													36	133					0	0	0	0	C	107576055	T	C	107576055	2	2	408	1	0	0	0	0	0	0	0	1	8663	1567	55	5		5	LAMB1	7	107576055	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	143693	107576055	51562608	1567	79385											
NRCAM	4897	broad.mit.edu	37	chr7	107816895	107816895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccacagttgttactGcttcctctgtaatttgactt	7	18	5	11	0	2	1	1	1	1	0	4	1	4	1	2	0	2	4	2	0	2	7	rs147348539		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107816895G>A	ENST00000379028.3	-	27	3601	c.3131C>T	c.(3130-3132)gCa>gTa	p.A1044V	NRCAM_ENST00000413765.2_Missense_Mutation_p.A1025V|NRCAM_ENST00000425651.2_Missense_Mutation_p.A1044V|NRCAM_ENST00000379024.4_Missense_Mutation_p.A1025V|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1044V|NRCAM_ENST00000351718.4_Missense_Mutation_p.A1028V			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1044	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGTTGTTACTGCTTCCTCTGT	0.308													32	110					0	0	0	0	A	107816895	G	A	107816895	3	1	408	1	0	0	0	0	1	0	0	0	10715	1319	46	4	841	4	NRCAM	7	107816895	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	240840	107816895	51321768	1568	79386											
NRCAM	4897	broad.mit.edu	37	chr7	107824692	107824692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcatagctcaccttccacGtaatcaccaaattatcaggc	13	10	4	14	1	4	0	4	0	0	0	5	0	5	0	3	1	1	2	3	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107824692G>A	ENST00000379028.3	-	22	2767	c.2297C>T	c.(2296-2298)aCg>aTg	p.T766M	NRCAM_ENST00000413765.2_Missense_Mutation_p.T747M|NRCAM_ENST00000425651.2_Missense_Mutation_p.T766M|NRCAM_ENST00000379024.4_Missense_Mutation_p.T747M|NRCAM_ENST00000379022.4_Missense_Mutation_p.T766M|NRCAM_ENST00000351718.4_Missense_Mutation_p.T750M			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	766	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACCTTCCACGTAATCACCAA	0.383													18	55					0	0	0	0	A	107824692	G	A	107824692	3	1	408	1	0	0	0	0	1	0	0	0	10715	1145	40	1	1695	1	NRCAM	7	107824692	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	7797	107824692	51313971	1569	79387											
PNPLA8	50640	broad.mit.edu	37	chr7	108155015	108155015	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttggggacaagtccAccaatataaccacctactaa	15	11	5	10	0	0	0	0	0	0	0	1	1	1	1	4	2	2	0	4	2	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:108155015A>G	ENST00000426128.2	-	2	1046	c.921T>C	c.(919-921)ggT>ggC	p.G307G	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Silent_p.G307G|PNPLA8_ENST00000453144.1_Silent_p.G207G|PNPLA8_ENST00000388728.5_Silent_p.G307G|PNPLA8_ENST00000436062.1_Silent_p.G307G|PNPLA8_ENST00000422087.1_Silent_p.G307G	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	307					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			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GGACAAGTCCACCAATATAAC	0.408													5	167					0	0	0	0	G	108155015	A	G	108155015	2	3	408	1	0	0	0	0	0	0	0	1	12243	146	6	5		5	PNPLA8	7	108155015	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	330323	108155015	50983648	1570	79388											
LRRN3	54674	broad.mit.edu	37	chr7	110764429	110764429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaataagagatattcaggCcaattcagttttggtgtcct	13	14	8	6	0	2	1	2	0	0	1	3	2	3	1	2	2	0	1	2	2	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:110764429C>T	ENST00000451085.1	+	4	2647	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V	IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.A534V|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.A534V	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	534	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GATATTCAGGCCAATTCAGTT	0.373													6	36					0	0	0	0	T	110764429	C	T	110764429	3	4	408	1	0	0	0	0	1	0	0	0	9100	739	26	4	1603	4	LRRN3	7	110764429	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2609414	110764429	48374234	1571	79389											
DOCK4	9732	broad.mit.edu	37	chr7	111580270	111580270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtactggacactacaggcaTtctttttttctcctgctccc	6	15	7	13	0	2	0	0	0	2	0	4	1	3	1	2	3	3	3	2	3	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:111580270T>C	ENST00000428084.1	-	11	1144	c.872A>G	c.(871-873)aAt>aGt	p.N291S	DOCK4_ENST00000437633.1_Missense_Mutation_p.N291S|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	291					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTACAGGCATTCTTTTTTTC	0.443													48	142					0	0	0	0	C	111580270	T	C	111580270	3	2	408	1	0	0	0	0	1	0	0	0	4725	1493	52	5	5196	5	DOCK4	7	111580270	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	815841	111580270	47558393	1572	79390											
KCND2	3751	broad.mit.edu	37	chr7	119915308	119915308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaatgtggtggaaacagtgCcgtgcggatcaagcccaggt	10	7	15	9	3	1	0	1	0	0	0	1	3	1	2	2	4	4	0	2	4	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:119915308C>T	ENST00000331113.4	+	1	1587	c.622C>T	c.(622-624)Ccg>Tcg	p.P208S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	208					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGAAACAGTGCCGTGCGGATC	0.552													31	59					0	0	0	0	T	119915308	C	T	119915308	3	4	408	1	0	0	0	0	1	0	0	0	8072	739	26	4	624	4	KCND2	7	119915308	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	8335038	119915308	39223355	1573	79391											
KCND2	3751	broad.mit.edu	37	chr7	119915701	119915701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggctatcatcatcttcGctacagttatgttctacgca	9	14	6	12	2	4	0	2	0	2	0	5	0	4	0	1	1	2	5	1	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:119915701G>A	ENST00000331113.4	+	1	1980	c.1015G>A	c.(1015-1017)Gct>Act	p.A339T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	339					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CATCATCTTCGCTACAGTTAT	0.517													27	89					0	0	0	0	A	119915701	G	A	119915701	3	1	408	1	0	0	0	0	1	0	0	0	8072	1087	38	1	1017	1	KCND2	7	119915701	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	393	119915701	39222962	1574	79392											
FAM3C	10447	broad.mit.edu	37	chr7	120991304	120991304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaatcagcaatgagccGccgtgcctcatcattgagtc	10	8	8	15	2	3	2	3	2	0	0	4	2	3	2	5	0	3	1	5	0	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:120991304G>A	ENST00000359943.3	-	9	700	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	163					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					GCAATGAGCCGCCGTGCCTCA	0.423													10	32					0	0	0	0	A	120991304	G	A	120991304	3	1	408	1	0	0	0	0	1	0	0	0	5605	1086	38	1	204	1	FAM3C	7	120991304	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1075603	120991304	38147359	1575	79393											
RNF148	378925	broad.mit.edu	37	chr7	122342612	122342612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccctttccagaggagaatGattcccgaacactccactct	11	9	6	15	1	1	3	0	1	1	2	4	5	4	3	4	1	1	0	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:122342612G>A	ENST00000434824.1	-	1	409	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	65	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGAGGAGAATGATTCCCGAAC	0.473													4	77					0	0	0	0	A	122342612	G	A	122342612	3	1	408	1	0	0	0	0	1	0	0	0	13534	1290	45	2	728	2	RNF148	7	122342612	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1351308	122342612	36796051	1576	79394											
ASB15	142685	broad.mit.edu	37	chr7	123269113	123269113	+	Frame_Shift_Del	DEL	T	T	-																															gagaggaagactgcgctgtaTtttggcgtttctaataatga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:123269113delT	ENST00000451558.1	+	12	1586	c.1065delT	c.(1063-1065)tafs	p.Y355fs	ASB15_ENST00000540573.1_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.Y355fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	355					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTGCGCTGTATTTTGGCGTTT	0.448													36	102	---	---	---	---					-	123269113	T	-	123269113	7	5	408	1	0	1	0	1	0	0	0	0	1023	1500	52	0	1091	0	ASB15	7	123269113	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	926501	123269113	35869550	1577	79395											
WASL	8976	broad.mit.edu	37	chr7	123346845	123346845	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggactattatatacaaagttAttgtatagctcttgttccca	12	16	6	7	0	1	0	0	0	1	0	2	1	2	1	1	1	2	4	1	1	8	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:123346845A>G	ENST00000223023.4	-	3	620	c.288T>C	c.(286-288)aaT>aaC	p.N96N		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	96	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATACAAAGTTATTGTATAGCT	0.289													14	41					0	0	0	0	G	123346845	A	G	123346845	2	3	408	1	0	0	0	0	0	0	0	1	17352	446	16	5		5	WASL	7	123346845	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	77732	123346845	35791818	1578	79396											
GRM8	2918	broad.mit.edu	37	chr7	126173817	126173817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtagttgtaaccttcacagCgttcacagtgccagcagcaa	11	9	10	11	1	2	0	2	0	0	0	2	0	2	0	2	1	5	6	2	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:126173817C>T	ENST00000339582.2	-	9	2427	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	GRM8_ENST00000444921.2_Missense_Mutation_p.R540H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R540H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	540					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACCTTCACAGCGTTCACAGTG	0.562										HNSCC(24;0.065)			23	103					0	0	0	0	T	126173817	C	T	126173817	3	4	408	1	0	0	0	0	1	0	0	0	6853	768	27	1	1169	1	GRM8	7	126173817	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2826972	126173817	32964846	1579	79397											
FSCN3	29999	broad.mit.edu	37	chr7	127236487	127236487	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcgttcagccaatggctActacctatcccaggtgagac	9	10	9	13	1	1	1	1	1	0	1	3	2	2	1	3	2	3	3	3	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:127236487A>G	ENST00000265825.5	+	3	1166	c.947A>G	c.(946-948)tAc>tGc	p.Y316C	FSCN3_ENST00000420086.2_Missense_Mutation_p.Y182C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	316						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCCAATGGCTACTACCTATCC	0.507													4	201					0	0	0	0	G	127236487	A	G	127236487	3	3	408	1	0	0	0	0	1	0	0	0	6117	391	14	5	957	5	FSCN3	7	127236487	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1062670	127236487	31902176	1580	79398											
LRRC4	64101	broad.mit.edu	37	chr7	127669070	127669070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaagacaatcaacatggCggcagctagcagagtcactg	15	6	11	9	1	2	3	2	0	0	3	2	3	2	3	0	2	3	3	0	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:127669070C>T	ENST00000249363.3	-	2	1881	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	542						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		ATCAACATGGCGGCAGCTAGC	0.517													9	20					0	0	0	0	T	127669070	C	T	127669070	3	4	408	1	0	0	0	0	1	0	0	0	9061	768	27	1	341	1	LRRC4	7	127669070	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	432583	127669070	31469593	1581	79399											
SND1	27044	broad.mit.edu	37	chr7	127714648	127714648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtcctgctggtggagcAcgcgctctccaaggtccact	5	9	12	15	3	1	0	0	0	1	0	5	1	4	1	4	3	2	3	4	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:127714648A>G	ENST00000354725.3	+	17	2068	c.1874A>G	c.(1873-1875)cAc>cGc	p.H625R		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	625	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGGTGGAGCACGCGCTCTCC	0.602													4	38					0	0	0	0	G	127714648	A	G	127714648	3	3	408	1	0	0	0	0	1	0	0	0	14932	159	6	5	1940	5	SND1	7	127714648	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	45578	127714648	31424015	1582	79400											
FAM71F2	346653	broad.mit.edu	37	chr7	128315777	128315777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaagggtctgccaccGtgatcctcggggtcacctcc	5	10	12	14	2	3	2	1	2	2	0	6	2	5	2	5	3	1	0	5	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:128315777G>A	ENST00000480462.1	+	2	335	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	77										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCTGCCACCGTGATCCTCGG	0.582													18	39					0	0	0	0	A	128315777	G	A	128315777	3	1	408	1	0	0	0	0	1	0	0	0	5659	1145	40	1	235	1	FAM71F2	7	128315777	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	601129	128315777	30822886	1583	79401											
TNPO3	23534	broad.mit.edu	37	chr7	128610312	128610313	+	Frame_Shift_Ins	INS	-	-	A																															tggctgacaagctgctgtccINSaagctggttcatcacctgtc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:128610312_128610313insA	ENST00000393245.1	-	20	2962_2963	c.2589_2590insT	c.(2587-2592)ctgacafs	p.T864fs	TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.T830fs|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.T764fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.T864fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.T766fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	830					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGCTGCTGTCCAAGCTGGTTCA	0.485													109	281	---	---	---	---					A	128610313	-	A	128610312	7	5	408	1	0	1	1	0	0	0	0	0	16431	603	21	0	295	0	TNPO3	7	128610312	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	294535	128610312	30528351	1584	79402											
AHCYL2	23382	broad.mit.edu	37	chr7	129064949	129064949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctcctgagggtcgctatAagcaggatgtctacctgttg	8	12	12	9	1	1	1	0	1	1	0	3	2	2	2	2	2	3	4	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129064949A>G	ENST00000325006.3	+	15	1729	c.1675A>G	c.(1675-1677)Aag>Gag	p.K559E	AHCYL2_ENST00000474594.1_Missense_Mutation_p.K456E|AHCYL2_ENST00000446212.1_Missense_Mutation_p.K457E|AHCYL2_ENST00000531335.2_Missense_Mutation_p.K478E|AHCYL2_ENST00000446544.2_Missense_Mutation_p.K558E|AHCYL2_ENST00000490911.1_Missense_Mutation_p.K456E	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	559					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGGTCGCTATAAGCAGGATGT	0.448													29	81					0	0	0	0	G	129064949	A	G	129064949	3	3	408	1	0	0	0	0	1	0	0	0	411	363	13	5	1855	5	AHCYL2	7	129064949	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	454637	129064949	30073714	1585	79403											
TMEM209	84928	broad.mit.edu	37	chr7	129813778	129813778	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatacatgcatgatgAtctgaggatgaagaaataat	18	10	9	4	0	1	5	0	4	1	1	1	6	1	6	0	1	3	2	0	1	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129813778A>T	ENST00000397622.2	-	12	1468	c.1344_splice	c.e12-1	p.I449_splice	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Splice_Site_p.I406_splice|TMEM209_ENST00000473456.1_Splice_Site_p.I407_splice|TMEM209_ENST00000462753.1_Splice_Site_p.I448_splice	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	449						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATGCATGATGATCTGAGGATG	0.353													6	207					0	0	0	0	T	129813778	A	T	129813778	5	4	408	1	0	0	0	0	0	0	1	0	16228	347	12	5	355	5	TMEM209	7	129813778	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	748829	129813778	29324885	1586	79404											
CPA2	1358	broad.mit.edu	37	chr7	129906728	129906728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggaaaacccatggccAtgaggttgatcctgtttttt	9	13	9	10	0	0	2	0	2	0	0	2	3	2	3	4	3	1	2	4	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129906728A>G	ENST00000222481.4	+	1	62	c.7A>G	c.(7-9)Atg>Gtg	p.M3V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	3					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ACCCATGGCCATGAGGTTGAT	0.448													34	93					0	0	0	0	G	129906728	A	G	129906728	3	3	408	1	0	0	0	0	1	0	0	0	3820	217	8	5	9	5	CPA2	7	129906728	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	92950	129906728	29231935	1587	79405											
CPA4	51200	broad.mit.edu	37	chr7	129962361	129962361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcagcatcgactgggcaTatgacaacggcatcaaattt	13	8	11	9	2	1	1	1	1	0	0	2	3	1	2	0	3	3	4	0	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129962361T>C	ENST00000222482.4	+	11	1139	c.1111T>C	c.(1111-1113)Tat>Cat	p.Y371H	CPA4_ENST00000445470.2_Missense_Mutation_p.Y338H|CPA4_ENST00000493259.1_Missense_Mutation_p.Y267H	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	371					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CGACTGGGCATATGACAACGG	0.527													4	155					0	0	0	0	C	129962361	T	C	129962361	3	2	408	1	0	0	0	0	1	0	0	0	3822	1406	49	5	1153	5	CPA4	7	129962361	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	55633	129962361	29176302	1588	79406											
PODXL	5420	broad.mit.edu	37	chr7	131189175	131189177	+	In_Frame_Del	DEL	CTC	CTC	-																															ttgaggctgaccaccttcttCtcctgcatctcagaagaggt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:131189175_131189177delCTC	ENST00000541194.1	-	9	1833_1835	c.1576_1578delGAG	c.(1576-1578)del	p.E526del	PODXL_ENST00000378555.3_In_Frame_Del_p.E524del|PODXL_ENST00000322985.9_In_Frame_Del_p.E492del|PODXL_ENST00000537928.1_In_Frame_Del_p.E492del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	524					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.E524Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CCACCTTCTTCTCCTGCATCTCA	0.567													24	144	---	---	---	---					-	131189177	CTC	-	131189175	7	5	408	1	0	1	0	1	0	0	0	0	12252	912	32	0	108	0	PODXL	7	131189175	In_Frame_Del	DEL	CTC	TCGA-F7-A624-01A-22D-A30E-08	1226814	131189175	27949488	1589	79407											
PODXL	5420	broad.mit.edu	37	chr7	131193775	131193775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtctgtgtctcaagatCctcacactttgcctggaaga	8	13	9	11	0	3	2	2	0	2	2	5	3	4	3	2	1	1	0	2	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:131193775C>A	ENST00000541194.1	-	5	1299	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	PODXL_ENST00000378555.3_Missense_Mutation_p.D346Y|PODXL_ENST00000322985.9_Missense_Mutation_p.D314Y|PODXL_ENST00000537928.1_Intron	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	346					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTCTCAAGATCCTCACACTTT	0.507													5	119					1.23904e-05	1.26627e-05	1	0	A	131193775	C	A	131193775	3	1	408	1	0	0	0	0	1	0	0	0	12252	855	30	2	660	2	PODXL	7	131193775	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4600	131193775	27944888	1590	79408											
EXOC4	60412	broad.mit.edu	37	chr7	132973733	132973733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcaaacgggatgagcttCggaaactgtggattgaagga	13	8	14	6	2	0	2	0	2	0	0	1	6	0	6	0	4	4	2	0	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:132973733C>T	ENST00000253861.4	+	3	363	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	EXOC4_ENST00000393161.2_Missense_Mutation_p.R112W|EXOC4_ENST00000539845.1_Missense_Mutation_p.R11W	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	112					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGATGAGCTTCGGAAACTGTG	0.433													24	77					0	0	0	0	T	132973733	C	T	132973733	3	4	408	1	0	0	0	0	1	0	0	0	5343	875	31	1	344	1	EXOC4	7	132973733	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1779958	132973733	26164930	1591	79409											
KIAA1549	57670	broad.mit.edu	37	chr7	138603663	138603663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgatgccctcagaggtgcGaaaagctgaccgaaaggtgt	13	6	13	9	3	1	2	1	1	0	1	1	5	1	2	2	2	4	1	2	2	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:138603663G>A	ENST00000440172.1	-	2	757	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R237C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R187C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	237						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCAGAGGTGCGAAAAGCTGAC	0.502			O	BRAF	pilocytic astrocytoma								36	118					0	0	0	0	A	138603663	G	A	138603663	3	1	408	1	0	0	0	0	1	0	0	0	8295	1058	37	1	5219	1	KIAA1549	7	138603663	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5629930	138603663	20535000	1592	79410											
UBN2	254048	broad.mit.edu	37	chr7	138967993	138967993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggttatcaacaatgggaAcaagggccctccagttggct	11	8	12	10	1	1	0	1	0	0	0	2	1	2	1	2	4	3	3	2	4	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:138967993A>G	ENST00000288561.8	+	15	2342	c.2093A>G	c.(2092-2094)aAc>aGc	p.N698S	UBN2_ENST00000473989.2_Missense_Mutation_p.N781S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	781										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACAATGGGAACAAGGGCCCT	0.463													4	168					0	0	0	0	G	138967993	A	G	138967993	3	3	408	1	0	0	0	0	1	0	0	0	16989	43	2	5	2400	5	UBN2	7	138967993	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	364330	138967993	20170670	1593	79411											
UBN2	254048	broad.mit.edu	37	chr7	138968955	138968955	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcactagttgcccagggtAgccactccagcactaacagc	11	7	9	14	0	0	0	0	0	0	0	1	0	1	0	3	1	6	4	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:138968955A>G	ENST00000288561.8	+	15	3304	c.3055A>G	c.(3055-3057)Agc>Ggc	p.S1019G	UBN2_ENST00000473989.2_Missense_Mutation_p.S1102G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1102	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGCCCAGGGTAGCCACTCCAG	0.478													6	174					0	0	0	0	G	138968955	A	G	138968955	3	3	408	1	0	0	0	0	1	0	0	0	16989	420	15	5	3362	5	UBN2	7	138968955	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	962	138968955	20169708	1594	79412											
HIPK2	28996	broad.mit.edu	37	chr7	139285288	139285288	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtcacatgaccggtcaaTagtgcaggctgctgcatgat	10	9	13	9	1	2	2	2	2	0	0	2	2	2	2	1	3	3	4	1	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:139285288T>C	ENST00000406875.3	-	11	2404	c.2310A>G	c.(2308-2310)ctA>ctG	p.L770L	HIPK2_ENST00000342645.6_Silent_p.L770L|HIPK2_ENST00000428878.2_Silent_p.L743L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	770	Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GACCGGTCAATAGTGCAGGCT	0.542													44	89					0	0	0	0	C	139285288	T	C	139285288	2	2	408	1	0	0	0	0	0	0	0	1	7167	1393	49	5		5	HIPK2	7	139285288	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	316333	139285288	19853375	1595	79413											
PARP12	64761	broad.mit.edu	37	chr7	139756833	139756833	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcatgggatctcttacAgctagtgccaaacttgcatt	12	12	8	9	0	2	0	1	0	1	0	3	2	2	1	1	1	5	2	1	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:139756833A>G	ENST00000263549.3	-	3	1456	c.583T>C	c.(583-585)Tgt>Cgt	p.C195R		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	195						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GATCTCTTACAGCTAGTGCCA	0.458													42	111					0	0	0	0	G	139756833	A	G	139756833	3	3	408	1	0	0	0	0	1	0	0	0	11528	188	7	5	1562	5	PARP12	7	139756833	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	471545	139756833	19381830	1596	79414											
RAB19	401409	broad.mit.edu	37	chr7	140110805	140110805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtattatcacctttgccagTattcagatccacgggcagac	11	11	8	11	1	2	2	2	0	0	2	3	2	3	2	3	1	1	3	3	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:140110805T>C	ENST00000275874.5	+	3	432	c.234T>C	c.(232-234)agT>agC	p.S78S	RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CCTTTGCCAGTATTCAGATCC	0.423													6	314					0	0	0	0	C	140110805	T	C	140110805	2	2	408	1	0	0	0	0	0	0	0	1	12986	1653	57	5		5	RAB19	7	140110805	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	353972	140110805	19027858	1597	79415											
MKRN1	23608	broad.mit.edu	37	chr7	140171758	140171758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacggactgtcagagaggTcatgcgagtagcgacagttg	11	9	14	7	3	2	1	2	0	0	1	2	5	2	2	0	2	3	2	0	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:140171758T>C	ENST00000255977.2	-	2	463	c.239A>G	c.(238-240)gAc>gGc	p.D80G	MKRN1_ENST00000474576.1_Missense_Mutation_p.D16G|MKRN1_ENST00000443720.2_Missense_Mutation_p.D80G|MKRN1_ENST00000480552.1_Missense_Mutation_p.D16G|MKRN1_ENST00000481705.1_5'UTR|MKRN1_ENST00000437223.2_5'UTR	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	80							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GTCAGAGAGGTCATGCGAGTA	0.408													23	80					0	0	0	0	C	140171758	T	C	140171758	3	2	408	1	0	0	0	0	1	0	0	0	9675	1667	58	5	1241	5	MKRN1	7	140171758	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	60953	140171758	18966905	1598	79416											
BRAF	673	broad.mit.edu	37	chr7	140487363	140487363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacctccatcaccacgaaAtccttggtctctaatcaagt	11	12	4	14	1	3	0	2	0	1	0	6	1	5	0	4	1	1	0	4	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:140487363A>G	ENST00000288602.6	-	9	1222	c.1162T>C	c.(1162-1164)Ttt>Ctt	p.F388L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	388					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCACCACGAAATCCTTGGTCT	0.338		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	113					0	0	0	0	G	140487363	A	G	140487363	3	3	408	1	0	0	0	0	1	0	0	0	1504	101	4	5	1178	5	BRAF	7	140487363	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	315605	140487363	18651300	1599	79417											
BRAF	673	broad.mit.edu	37	chr7	140500208	140500208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgatccagatgttaGggcagtctctgctaaggacg	10	9	15	7	1	1	2	0	1	1	1	3	4	2	4	1	4	1	3	1	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:140500208G>T	ENST00000288602.6	-	7	994	c.934C>A	c.(934-936)Cta>Ata	p.L312I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	312					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CCAGATGTTAGGGCAGTCTCT	0.488		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	88					4.47668e-21	4.72492e-21	1	0	T	140500208	G	T	140500208	3	4	408	1	0	0	0	0	1	0	0	0	1504	991	35	4	1414	4	BRAF	7	140500208	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	12845	140500208	18638455	1600	79418											
PRSS37	136242	broad.mit.edu	37	chr7	141537832	141537832	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgactgtagttccagtagcgGacgatctgaatggggttaat	10	12	13	6	2	1	2	0	2	1	0	2	4	2	3	1	3	1	4	1	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:141537832G>A	ENST00000350549.3	-	3	629	c.258C>T	c.(256-258)gtC>gtT	p.V86V	PRSS37_ENST00000438520.1_Silent_p.V86V	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	86	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TCCAGTAGCGGACGATCTGAA	0.517													49	175					0	0	0	0	A	141537832	G	A	141537832	2	1	408	1	0	0	0	0	0	0	0	1	12705	1161	41	2		2	PRSS37	7	141537832	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1037624	141537832	17600831	1601	79419											
MGAM	8972	broad.mit.edu	37	chr7	141736759	141736759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccgaggggacacggtggCcaggccccttttgcatgagt	7	7	15	12	2	0	1	0	1	0	0	0	3	0	2	4	5	2	1	4	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:141736759C>T	ENST00000475668.2	+	18	2267	c.2213C>T	c.(2212-2214)gCc>gTc	p.A738V	MGAM_ENST00000549489.2_Missense_Mutation_p.A738V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	738	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACACGGTGGCCAGGCCCCTT	0.443													64	219					0	0	0	0	T	141736759	C	T	141736759	3	4	408	1	0	0	0	0	1	0	0	0	9610	739	26	4	2279	4	MGAM	7	141736759	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	198927	141736759	17401904	1602	79420											
TRPV6	55503	broad.mit.edu	37	chr7	142571233	142571233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctcatcccgctcatgggCcactcgccagtgagtgtcgc	6	8	11	16	3	2	1	2	1	0	0	5	1	3	1	3	1	1	2	3	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:142571233C>A	ENST00000359396.3	-	13	2001	c.1756G>T	c.(1756-1758)Gcc>Tcc	p.A586S		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	586					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGCTCATGGGCCACTCGCCAG	0.592													50	121					1.86633e-21	1.97029e-21	1	0	A	142571233	C	A	142571233	3	1	408	1	0	0	0	0	1	0	0	0	16695	739	26	4	433	4	TRPV6	7	142571233	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	834474	142571233	16567430	1603	79421											
TRPV5	56302	broad.mit.edu	37	chr7	142627452	142627452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagatcccacctctttgtCgaacgtcacaggtgcagtcc	8	10	8	15	2	2	1	1	0	1	1	6	2	5	1	4	1	2	1	4	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:142627452C>T	ENST00000265310.1	-	2	566	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	73					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTTTGTCGAACGTCACA	0.512													29	94					0	0	0	0	T	142627452	C	T	142627452	3	4	408	1	0	0	0	0	1	0	0	0	16694	884	31	1	2027	1	TRPV5	7	142627452	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	56219	142627452	16511211	1604	79422											
CASP2	835	broad.mit.edu	37	chr7	143001775	143001775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttgcagggactgccGccatgcggaacaccaaacga	10	8	12	11	3	0	0	0	0	0	0	0	3	0	2	3	3	5	2	3	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:143001775G>A	ENST00000310447.5	+	10	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	376					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGGGACTGCCGCCATGCGGAA	0.537													22	109					0	0	0	0	A	143001775	G	A	143001775	3	1	408	1	0	0	0	0	1	0	0	0	2696	1087	38	1	1164	1	CASP2	7	143001775	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	374323	143001775	16136888	1605	79423											
EPHA1	2041	broad.mit.edu	37	chr7	143088755	143088755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatggtgtccagcccaGccgagtggaagtgcaggatg	9	7	14	11	1	0	0	0	0	0	0	2	3	2	2	4	3	3	1	4	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:143088755G>A	ENST00000275815.3	-	17	2896	c.2810C>T	c.(2809-2811)gCt>gTt	p.A937V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	937	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTCCAGCCCAGCCGAGTGGAA	0.622													17	56					0	0	0	0	A	143088755	G	A	143088755	3	1	408	1	0	0	0	0	1	0	0	0	5203	971	34	4	128	4	EPHA1	7	143088755	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	86980	143088755	16049908	1606	79424											
TAS2R41	259287	broad.mit.edu	37	chr7	143175750	143175750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatttatctccatgcagaAcgacttttactggccatggc	12	12	7	10	1	1	1	0	0	1	1	2	2	1	1	2	2	3	1	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:143175750A>G	ENST00000408916.1	+	1	785	c.785A>G	c.(784-786)aAc>aGc	p.N262S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	262					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCCATGCAGAACGACTTTTAC	0.473													29	89					0	0	0	0	G	143175750	A	G	143175750	3	3	408	1	0	0	0	0	1	0	0	0	15670	43	2	5	787	5	TAS2R41	7	143175750	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	86995	143175750	15962913	1607	79425											
EZH2	2146	broad.mit.edu	37	chr7	148515124	148515124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctactgttattgggaagcCgtcctcttctgcggcctcct	4	14	10	13	2	2	0	0	0	2	0	4	1	4	1	4	2	4	2	4	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:148515124C>T	ENST00000320356.2	-	10	1206	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	EZH2_ENST00000460911.1_Missense_Mutation_p.R357Q|EZH2_ENST00000478654.1_Missense_Mutation_p.R348Q|EZH2_ENST00000483967.1_Missense_Mutation_p.R348Q|EZH2_ENST00000476773.1_Missense_Mutation_p.R348Q|EZH2_ENST00000350995.2_Missense_Mutation_p.R318Q|EZH2_ENST00000541220.1_Missense_Mutation_p.R348Q	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	357					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTGGGAAGCCGTCCTCTTCT	0.537			Mis		DLBCL								4	137					0	0	0	0	T	148515124	C	T	148515124	3	4	408	1	0	0	0	0	1	0	0	0	5372	652	23	1	1214	1	EZH2	7	148515124	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5339374	148515124	10623539	1608	79426											
ZNF398	57541	broad.mit.edu	37	chr7	148876542	148876542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgcgcaaggagcacctGctgaaccaccggcggctgca	9	6	12	14	3	1	1	1	1	0	0	1	2	1	2	3	3	5	5	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:148876542G>A	ENST00000420008.2	+	6	1853	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L	ZNF398_ENST00000491174.1_Silent_p.L355L|ZNF398_ENST00000483892.1_Silent_p.L355L|ZNF398_ENST00000426851.2_Silent_p.L355L|ZNF398_ENST00000335901.4_Silent_p.L355L|ZNF398_ENST00000475153.1_Silent_p.L526L|ZNF398_ENST00000540950.1_Silent_p.L531L	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	526					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGGAGCACCTGCTGAACCACC	0.607													36	111					0	0	0	0	A	148876542	G	A	148876542	2	1	408	1	0	0	0	0	0	0	0	1	17980	1306	46	4		4	ZNF398	7	148876542	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	361418	148876542	10262121	1609	79427											
ZNF777	27153	broad.mit.edu	37	chr7	149129494	149129494	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgctaccagagctgggTgacttgggacgcggcttgag	6	7	16	12	4	0	3	0	2	0	1	0	4	0	4	3	3	2	3	3	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149129494T>C	ENST00000247930.4	-	6	2192	c.1869A>G	c.(1867-1869)tcA>tcG	p.S623S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CAGAGCTGGGTGACTTGGGAC	0.667													9	271					0	0	0	0	C	149129494	T	C	149129494	2	2	408	1	0	0	0	0	0	0	0	1	18243	1683	59	5		5	ZNF777	7	149129494	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	252952	149129494	10009169	1610	79428											
ZNF777	27153	broad.mit.edu	37	chr7	149152363	149152363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctccagccgcctctgcaGcagcccatactcctgcagca	7	8	8	18	1	2	0	0	0	2	0	4	0	3	0	5	0	7	5	5	0	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149152363G>A	ENST00000247930.4	-	2	1074	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCCTCTGCAGCAGCCCATAC	0.567													17	186					0	0	0	0	A	149152363	G	A	149152363	2	1	408	1	0	0	0	0	0	0	0	1	18243	962	34	4		4	ZNF777	7	149152363	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	22869	149152363	9986300	1611	79429											
SSPO	23145	broad.mit.edu	37	chr7	149492408	149492408	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctcctgggggctcccacCcaggggcccagccctcaggg	4	4	14	19	0	1	0	1	0	0	0	3	0	3	0	6	5	1	1	6	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149492408C>A	ENST00000378016.2	+	0	6297							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTCCCACCCAGGGGCCCA	0.672													14	37					1.49906e-05	1.53131e-05	1	0	A	149492408	C	A	149492408	1	1	408	0	1	0	0	0	0	0	0	0	15279	610	22	4		4	SSPO	7	149492408	RNA	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	340045	149492408	9646255	1612	79430											
SSPO	23145	broad.mit.edu	37	chr7	149505380	149505380	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtaagatggcatgcacctcgGagcgctgcccaggtaccccc	8	6	12	15	2	0	1	0	0	0	1	1	2	0	2	4	3	4	5	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149505380G>A	ENST00000378016.2	+	0	8938							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATGCACCTCGGAGCGCTGCCC	0.602													36	140					0	0	0	0	A	149505380	G	A	149505380	1	1	408	0	1	0	0	0	0	0	0	0	15279	1175	41	2		2	SSPO	7	149505380	RNA	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	12972	149505380	9633283	1613	79431											
SSPO	23145	broad.mit.edu	37	chr7	149523280	149523280	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcactatggagcgacatcGgacttgtgaggggggtcctg	7	8	18	8	2	0	1	0	1	0	0	2	4	1	3	1	6	1	1	1	6	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149523280G>A	ENST00000378016.2	+	0	14366							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCGACATCGGACTTGTGAG	0.657													17	61					0	0	0	0	A	149523280	G	A	149523280	1	1	408	0	1	0	0	0	0	0	0	0	15279	1116	39	1		1	SSPO	7	149523280	RNA	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	17900	149523280	9615383	1614	79432											
REPIN1	29803	broad.mit.edu	37	chr7	150069439	150069439	+	Frame_Shift_Del	DEL	C	C	-																															cccgcaggacccgatcgaagCccccccctccctctacagct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150069439delC	ENST00000397281.2	+	4	1598	c.1109delC	c.(1108-1110)gcfs	p.A370fs	REPIN1_ENST00000425389.2_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000444957.1_Frame_Shift_Del_p.A370fs|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000489432.2_Frame_Shift_Del_p.A427fs|REPIN1_ENST00000479668.1_3'UTR	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	370	Pro-rich.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGATCGAAGCCCCCCCCTCC	0.751													3	4	---	---	---	---					-	150069439	C	-	150069439	7	5	408	1	0	1	0	1	0	0	0	0	13309	739	26	0	1286	0	REPIN1	7	150069439	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	546159	150069439	9069224	1615	79433											
REPIN1	29803	broad.mit.edu	37	chr7	150069682	150069682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggcggcgcatcggcGcgaccacgcccccgatcggc	5	4	13	19	8	1	0	0	0	1	0	3	2	1	0	4	4	0	1	4	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150069682G>A	ENST00000397281.2	+	4	1841	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H	REPIN1_ENST00000540729.1_Missense_Mutation_p.R451H|REPIN1_ENST00000425389.2_Missense_Mutation_p.R451H|REPIN1_ENST00000444957.1_Missense_Mutation_p.R451H|REPIN1_ENST00000489432.2_Missense_Mutation_p.R508H|REPIN1_ENST00000479668.1_3'UTR	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	451				R -> P (in Ref. 1; AAF26712).	DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCGCATCGGCGCGACCACGCC	0.741													9	43					0	0	0	0	A	150069682	G	A	150069682	3	1	408	1	0	0	0	0	1	0	0	0	13309	1087	38	1	1529	1	REPIN1	7	150069682	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	243	150069682	9068981	1616	79434											
GIMAP8	155038	broad.mit.edu	37	chr7	150171146	150171146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggacccgagcagaatccGgggacatcagaactgacagt	14	4	12	11	2	1	3	1	1	0	2	2	6	2	5	2	3	2	1	2	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150171146G>A	ENST00000307271.3	+	4	1303	c.729G>A	c.(727-729)ccG>ccA	p.P243P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	243						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCAGAATCCGGGGACATCAG	0.552													56	129					0	0	0	0	A	150171146	G	A	150171146	2	1	408	1	0	0	0	0	0	0	0	1	6436	1103	39	1		1	GIMAP8	7	150171146	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	101464	150171146	8967517	1617	79435											
KCNH2	3757	broad.mit.edu	37	chr7	150648901	150648901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagccgcagcagccgcGcagtcttcagcagcccgatc	8	4	11	18	4	2	0	1	0	1	0	3	1	2	0	4	0	5	5	4	0	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150648901G>A	ENST00000392968.2	-	5	2412	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	KCNH2_ENST00000330883.4_Missense_Mutation_p.A187V|KCNH2_ENST00000430723.3_Missense_Mutation_p.A527V|KCNH2_ENST00000262186.5_Missense_Mutation_p.A527V			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	527					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGCAGCCGCGCAGTCTTCAG	0.667													17	45					0	0	0	0	A	150648901	G	A	150648901	3	1	408	1	0	0	0	0	1	0	0	0	8085	1087	38	1	2204	1	KCNH2	7	150648901	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	477755	150648901	8489762	1618	79436											
SLC4A2	6522	broad.mit.edu	37	chr7	150764061	150764061	+	Frame_Shift_Del	DEL	C	C	-																															acctcgggcccgaccccgggCcccccacaagccccatgagg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150764061delC	ENST00000485713.1	+	7	1987	c.947delC	c.(946-948)gcfs	p.A316fs	SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.A316fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.A234fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.A302fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.A307fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	316	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		CGACCCCGGGCCCCCCACAAG	0.637													38	136	---	---	---	---					-	150764061	C	-	150764061	7	5	408	1	0	1	0	1	0	0	0	0	14742	739	26	0	969	0	SLC4A2	7	150764061	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	115160	150764061	8374602	1619	79437											
ASB10	136371	broad.mit.edu	37	chr7	150878067	150878067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggacggcgccatggtTgagcagagcccgaaccacgt	10	4	14	13	5	0	2	0	1	0	1	0	5	0	3	3	3	3	2	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150878067T>C	ENST00000422024.1	-	3	1323	c.1198A>G	c.(1198-1200)Aac>Gac	p.N400D	ASB10_ENST00000420175.2_Missense_Mutation_p.N355D|ASB10_ENST00000275838.1_Missense_Mutation_p.N355D|ASB10_ENST00000377867.3_Missense_Mutation_p.N340D|ASB10_ENST00000434669.1_Missense_Mutation_p.N400D	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	355					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGCCATGGTTGAGCAGAGCC	0.697													7	25					0	0	0	0	C	150878067	T	C	150878067	3	2	408	1	0	0	0	0	1	0	0	0	1018	1812	63	5	352	5	ASB10	7	150878067	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	114006	150878067	8260596	1620	79438											
CHPF2	54480	broad.mit.edu	37	chr7	150931160	150931160	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcatcttagggctgtcTctggggtgcagcctgagcct	4	11	12	14	0	3	1	1	1	2	0	4	1	3	1	4	3	3	2	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150931160T>G	ENST00000035307.2	+	1	1576	c.63T>G	c.(61-63)tcT>tcG	p.S21S	CHPF2_ENST00000495645.1_Intron	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	21						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TAGGGCTGTCTCTGGGGTGCA	0.657													27	75					0	0	0	0	G	150931160	T	G	150931160	2	3	408	1	0	0	0	0	0	0	0	1	3398	1538	54	5		5	CHPF2	7	150931160	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	53093	150931160	8207503	1621	79439											
GALNT11	63917	broad.mit.edu	37	chr7	151791468	151791468	+	Frame_Shift_Del	DEL	A	A	-																															gggccccacggaccatctccAaaaaaattctatccccgttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:151791468delA	ENST00000434507.1	+	4	593	c.156delA	c.(154-156)ccfs	p.P52fs	GALNT11_ENST00000415421.1_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000422997.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000430044.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000482812.1_3'UTR			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	52						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GACCATCTCCAAAAAAATTCT	0.473													44	159	---	---	---	---					-	151791468	A	-	151791468	7	5	408	1	0	1	0	1	0	0	0	0	6258	117	5	0	158	0	GALNT11	7	151791468	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	860308	151791468	7347195	1622	79440											
RBM33	155435	broad.mit.edu	37	chr7	155534609	155534609	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaattacccatagcgccgTcacacgtgatagaaatgagc	13	8	10	10	3	1	4	1	3	0	1	1	4	1	4	2	0	3	0	2	0	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:155534609T>A	ENST00000401878.3	+	13	2344	c.2146T>A	c.(2146-2148)Tca>Aca	p.S716T		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	716							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CATAGCGCCGTCACACGTGAT	0.567													48	136					0	0	0	0	A	155534609	T	A	155534609	3	1	408	1	0	0	0	0	1	0	0	0	13212	1667	58	5	2196	5	RBM33	7	155534609	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3743141	155534609	3604054	1623	79441											
UBE3C	9690	broad.mit.edu	37	chr7	156979697	156979697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggtgcagcaccgcaTgatggtacccaaagtcaggc	10	7	13	11	1	1	2	1	2	0	0	1	2	1	2	2	3	3	5	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:156979697T>C	ENST00000348165.5	+	10	1673	c.1313T>C	c.(1312-1314)aTg>aCg	p.M438T	UBE3C_ENST00000389103.4_Missense_Mutation_p.M395T	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	438					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAGCACCGCATGATGGTACCC	0.597													7	20					0	0	0	0	C	156979697	T	C	156979697	3	2	408	1	0	0	0	0	1	0	0	0	16977	1464	51	5	1351	5	UBE3C	7	156979697	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1445088	156979697	2158966	1624	79442											
VIPR2	7434	broad.mit.edu	37	chr7	158829514	158829514	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccaggagggtgtggaggTagagcccctccaccagcagc	9	4	14	14	0	0	1	0	0	0	1	1	3	1	3	6	4	3	2	6	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:158829514T>G	ENST00000262178.2	-	7	862	c.677A>C	c.(676-678)tAc>tCc	p.Y226S	VIPR2_ENST00000377633.3_Missense_Mutation_p.Y210S|VIPR2_ENST00000402066.1_Missense_Mutation_p.Y367S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	226					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGTGTGGAGGTAGAGCCCCTC	0.602													5	57					0	0	0	0	G	158829514	T	G	158829514	3	3	408	1	0	0	0	0	1	0	0	0	17266	1638	57	5	667	5	VIPR2	7	158829514	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1849817	158829514	309149	1625	79443											
FBXO25	26260	broad.mit.edu	37	chr8	363094	363094	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactatgccatttttgggTcaggactggagatctcctgg	9	12	12	8	0	2	2	1	0	1	2	3	4	2	3	2	4	2	0	2	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:363094T>C	ENST00000276326.5	+	2	134	c.15T>C	c.(13-15)ggT>ggC	p.G5G	FBXO25_ENST00000352684.2_5'UTR|FBXO25_ENST00000350302.3_Silent_p.G5G|FBXO25_ENST00000382824.1_5'UTR	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	5	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CATTTTTGGGTCAGGACTGGA	0.318													20	92					0	0	0	0	C	363094	T	C	363094	2	2	408	1	0	0	0	0	0	0	0	1	5781	1654	58	5		5	FBXO25	8	363094	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08		363094	146000928	1626	79444											
FBXO25	26260	broad.mit.edu	37	chr8	381399	381399	+	Frame_Shift_Del	DEL	A	A	-																															aagagcatgaatatgcatcgAaaaaaaggaaaaaggaccat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:381399delA	ENST00000352684.2	+	3	459	c.42delA	c.(40-42)cgfs	p.R14fs	FBXO25_ENST00000350302.3_Frame_Shift_Del_p.K66fs|FBXO25_ENST00000382824.1_Frame_Shift_Del_p.R14fs|FBXO25_ENST00000276326.5_Frame_Shift_Del_p.K66fs	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	0	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		ATATGCATCGAAAAAAAGGAA	0.259													17	100	---	---	---	---					-	381399	A	-	381399	7	5	408	1	0	1	0	1	0	0	0	0	5781	247	9	0	199	0	FBXO25	8	381399	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	18305	381399	145982623	1627	79445											
FBXO25	26260	broad.mit.edu	37	chr8	385615	385615	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtgttgcttttccagAggcatggctattgcaccttg	5	16	10	10	0	1	1	0	0	1	1	2	1	2	1	2	2	2	5	2	2	1	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:385615A>G	ENST00000352684.2	+	4	505	c.87_splice	c.e4-1	p.R30_splice	FBXO25_ENST00000350302.3_Splice_Site_p.R97_splice|FBXO25_ENST00000382824.1_Splice_Site_p.R30_splice|FBXO25_ENST00000276326.5_Splice_Site_p.R97_splice	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	97	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GCTTTTCCAGAGGCATGGCTA	0.358													5	93					0	0	0	0	G	385615	A	G	385615	5	3	408	1	0	0	0	0	0	0	1	0	5781	318	11	5	303	5	FBXO25	8	385615	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4216	385615	145978407	1628	79446											
ARHGEF10	9639	broad.mit.edu	37	chr8	1808161	1808161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattctgtcatcgacatcAcgccattccaggaggaccag	11	9	8	13	2	3	0	2	0	1	0	5	3	4	2	3	2	0	0	3	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:1808161A>G	ENST00000518288.1	+	5	527	c.364A>G	c.(364-366)Acg>Gcg	p.T122A	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.T122A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.T98A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.T122A|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.T98A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.T122A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	122					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CATCGACATCACGCCATTCCA	0.602													11	163					0	0	0	0	G	1808161	A	G	1808161	3	3	408	1	0	0	0	0	1	0	0	0	896	159	6	5	302	5	ARHGEF10	8	1808161	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1422546	1808161	144555861	1629	79447											
CSMD1	64478	broad.mit.edu	37	chr8	2813199	2813199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgaggaaaaagcctggatgGcaggtgtacactaaggtgta	13	7	15	6	1	0	0	0	0	0	0	0	3	0	2	1	5	2	3	1	5	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:2813199G>A	ENST00000602557.1	-	65	10464	c.9909C>T	c.(9907-9909)tgC>tgT	p.C3303C	CSMD1_ENST00000602723.1_Silent_p.C3126C|CSMD1_ENST00000542608.1_Silent_p.C3125C|CSMD1_ENST00000537824.1_Silent_p.C3302C|CSMD1_ENST00000400186.3_Silent_p.C3126C|CSMD1_ENST00000520002.1_Silent_p.C3303C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3303	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCCTGGATGGCAGGTGTACA	0.502													53	113					0	0	0	0	A	2813199	G	A	2813199	2	1	408	1	0	0	0	0	0	0	0	1	3976	1195	42	4		4	CSMD1	8	2813199	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1005038	2813199	143550823	1630	79448											
CSMD1	64478	broad.mit.edu	37	chr8	3265497	3265497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgaactatatgcccactGctggccagctgggaaggcac	11	6	12	12	1	0	0	0	0	0	0	0	2	0	1	2	3	5	3	2	3	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:3265497G>A	ENST00000602557.1	-	15	2553	c.1998C>T	c.(1996-1998)agC>agT	p.S666S	CSMD1_ENST00000602723.1_Silent_p.S666S|CSMD1_ENST00000542608.1_Silent_p.S665S|CSMD1_ENST00000539096.1_Silent_p.S665S|CSMD1_ENST00000537824.1_Silent_p.S665S|CSMD1_ENST00000400186.3_Silent_p.S666S|CSMD1_ENST00000520002.1_Silent_p.S666S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	666	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATGCCCACTGCTGGCCAGCT	0.488													20	33					0	0	0	0	A	3265497	G	A	3265497	2	1	408	1	0	0	0	0	0	0	0	1	3976	1310	46	4		4	CSMD1	8	3265497	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	452298	3265497	143098525	1631	79449											
SPAG11A	653423	broad.mit.edu	37	chr8	7718228	7718228	+	Frame_Shift_Del	DEL	T	T	-																															gcagcaagggatctgcagacTttttttctgccattctggtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:7718228delT	ENST00000326558.5	+	3	298	c.275delT	c.(274-276)ctfs	p.L92fs	SPAG11A_ENST00000454911.2_3'UTR|SPAG11A_ENST00000326625.5_Frame_Shift_Del_p.L39fs|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000351436.4_Intron	NM_001081552.2	NP_001075021.2			sperm associated antigen 11A									p.L92H(1)		central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATCTGCAGACTTTTTTTCTGC	0.413													30	93	---	---	---	---					-	7718228	T	-	7718228	7	5	408	1	0	1	0	1	0	0	0	0	15066	1609	56	0	285	0	SPAG11A	8	7718228	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	4452731	7718228	138645794	1632	79450											
SGK223	157285	broad.mit.edu	37	chr8	8176218	8176218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgctgcaggtttggggTgccgcccggcttctgcttgg	1	13	15	12	2	2	0	0	0	2	0	2	0	2	0	2	5	4	5	2	5	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:8176218T>C	ENST00000520004.1	-	6	3931	c.3667A>G	c.(3667-3669)Acc>Gcc	p.T1223A	SGK223_ENST00000330777.4_Missense_Mutation_p.T1223A			Q86YV5	SG223_HUMAN		1223	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AGGTTTGGGGTGCCGCCCGGC	0.657													11	60					0	0	0	0	C	8176218	T	C	8176218	3	2	408	1	0	0	0	0	1	0	0	0	14297	1696	59	5	545	5	SGK223	8	8176218	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	457990	8176218	138187804	1633	79451											
TNKS	8658	broad.mit.edu	37	chr8	9567543	9567544	+	Frame_Shift_Ins	INS	-	-	A																															aaaaggagcaaatgttaatgINSaaaaaaataaagagtaagta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:9567543_9567544insA	ENST00000310430.6	+	10	1683_1684	c.1657_1658insA	c.(1657-1659)aaafs	p.K553fs	TNKS_ENST00000518281.1_Frame_Shift_Ins_p.K316fs|TNKS_ENST00000520408.1_Frame_Shift_Ins_p.K553fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	553					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAATGTTAATGAAAAAAATAAA	0.342													7	39	---	---	---	---					A	9567544	-	A	9567543	7	5	408	1	0	1	1	0	0	0	0	0	16413	1291	45	0	1695	0	TNKS	8	9567543	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	1391325	9567543	136796479	1634	79452											
SOX7	83595	broad.mit.edu	37	chr8	10583449	10583449	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgatccatgtcccccaggagTtccacctggctcagttgatc	7	10	9	15	1	1	1	1	1	0	0	5	3	4	2	5	2	0	3	5	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:10583449T>C	ENST00000304501.1	-	2	1044	c.966A>G	c.(964-966)gaA>gaG	p.E322E	SOX7_ENST00000554914.1_Silent_p.E374E|SOX7_ENST00000553390.1_Silent_p.E374E	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	322	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCCCCAGGAGTTCCACCTGGC	0.617													17	60					0	0	0	0	C	10583449	T	C	10583449	2	2	408	1	0	0	0	0	0	0	0	1	15044	1722	60	5		5	SOX7	8	10583449	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1015906	10583449	135780573	1635	79453											
XKR6	286046	broad.mit.edu	37	chr8	10755966	10755966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacacaacacagtgctggCaccgcataggagtcagtggt	13	6	12	10	1	1	1	1	0	0	1	1	2	1	2	1	3	2	3	1	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:10755966C>T	ENST00000416569.2	-	3	1448	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	XKR6_ENST00000304437.2_Silent_p.V195V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	474						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ACAGTGCTGGCACCGCATAGG	0.478													13	32					0	0	0	0	T	10755966	C	T	10755966	2	4	408	1	0	0	0	0	0	0	0	1	17531	697	25	4		4	XKR6	8	10755966	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	172517	10755966	135608056	1636	79454											
USP17L2	377630	broad.mit.edu	37	chr8	11996053	11996053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccgcagcaggtctccTgctactcagaggaagcttct	8	8	9	16	1	3	1	1	0	2	1	4	2	3	2	4	2	4	4	4	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:11996053T>C	ENST00000333796.3	-	1	533	c.217A>G	c.(217-219)Agg>Ggg	p.R73G	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	73					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGTCTCCTGCTACTCAGA	0.572													13	78					0	0	0	0	C	11996053	T	C	11996053	3	2	408	1	0	0	0	0	1	0	0	0	17144	1579	55	5	1379	5	USP17L2	8	11996053	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1240087	11996053	134367969	1637	79455											
LONRF1	91694	broad.mit.edu	37	chr8	12595535	12595535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggttcattgagagactgaGactcttccatcactgaatga	12	12	9	8	0	3	5	2	4	1	2	4	7	4	5	1	1	0	1	1	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:12595535G>A	ENST00000398246.3	-	4	1151	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	LONRF1_ENST00000533751.1_Missense_Mutation_p.S4F	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	361					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GAGAGACTGAGACTCTTCCAT	0.398													28	92					0	0	0	0	A	12595535	G	A	12595535	3	1	408	1	0	0	0	0	1	0	0	0	8958	942	33	2	1275	2	LONRF1	8	12595535	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	599482	12595535	133768487	1638	79456											
LONRF1	91694	broad.mit.edu	37	chr8	12595579	12595579	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaaggtctgtttttagtAcatggtaatgaactccagga	13	13	9	6	0	2	1	1	1	1	0	3	2	3	2	1	3	2	3	1	3	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:12595579A>G	ENST00000398246.3	-	4	1107	c.1038T>C	c.(1036-1038)tgT>tgC	p.C346C	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	346					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TGTTTTTAGTACATGGTAATG	0.358													18	78					0	0	0	0	G	12595579	A	G	12595579	2	3	408	1	0	0	0	0	0	0	0	1	8958	389	14	5		5	LONRF1	8	12595579	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	44	12595579	133768443	1639	79457											
DLC1	10395	broad.mit.edu	37	chr8	12943919	12943919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcgcgatcgtgatccAcagaggttagtaaaagggca	12	7	14	8	3	0	2	0	1	0	1	2	3	1	2	1	3	1	3	1	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:12943919A>G	ENST00000276297.4	-	17	4755	c.4346T>C	c.(4345-4347)gTg>gCg	p.V1449A	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.V938A|DLC1_ENST00000358919.2_Missense_Mutation_p.V1012A|DLC1_ENST00000512044.2_Missense_Mutation_p.V1046A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1449	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATCGTGATCCACAGAGGTTAG	0.478													5	167					0	0	0	0	G	12943919	A	G	12943919	3	3	408	1	0	0	0	0	1	0	0	0	4587	159	6	5	248	5	DLC1	8	12943919	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	348340	12943919	133420103	1640	79458											
DLC1	10395	broad.mit.edu	37	chr8	12957371	12957371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccgagggggagaaactGccattggtgagagctttggg	8	9	16	8	1	0	2	0	1	0	2	1	5	1	2	3	4	3	1	3	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:12957371G>A	ENST00000276297.4	-	9	2884	c.2475C>T	c.(2473-2475)ggC>ggT	p.G825G	DLC1_ENST00000520226.1_Silent_p.G314G|DLC1_ENST00000358919.2_Silent_p.G388G|DLC1_ENST00000512044.2_Silent_p.G422G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	825					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGGAGAAACTGCCATTGGTGA	0.557													13	243					0	0	0	0	A	12957371	G	A	12957371	2	1	408	1	0	0	0	0	0	0	0	1	4587	1306	46	4		4	DLC1	8	12957371	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	13452	12957371	133406651	1641	79459											
SLC7A2	6542	broad.mit.edu	37	chr8	17412171	17412171	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaattccaaaacgaagacAccaataattgctactttatc	17	11	3	10	1	1	1	1	0	0	1	3	2	2	1	2	0	3	1	2	0	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17412171A>G	ENST00000494857.1	+	8	1376	c.1158A>G	c.(1156-1158)acA>acG	p.T386T	SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000004531.10_Silent_p.T426T|SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000522656.1_Silent_p.T386T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	386					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAACGAAGACACCAATAATTG	0.423													35	247					0	0	0	0	G	17412171	A	G	17412171	2	3	408	1	0	0	0	0	0	0	0	1	14785	146	6	5		5	SLC7A2	8	17412171	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4454800	17412171	128951851	1642	79460											
PDGFRL	5157	broad.mit.edu	37	chr8	17447030	17447030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaagaaccaggagagaatAgaatcaaacctaccaacaag	22	3	7	9	0	1	3	1	0	0	3	1	5	1	4	3	1	4	0	3	1	10	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17447030A>G	ENST00000541323.1	+	3	554	c.109A>G	c.(109-111)Aga>Gga	p.R37G	PDGFRL_ENST00000251630.6_Missense_Mutation_p.R37G|PDGFRL_ENST00000398074.3_Missense_Mutation_p.R37G	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	37						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AGGAGAGAATAGAATCAAACC	0.433													64	233					0	0	0	0	G	17447030	A	G	17447030	3	3	408	1	0	0	0	0	1	0	0	0	11734	412	15	5	115	5	PDGFRL	8	17447030	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	34859	17447030	128916992	1643	79461											
PCM1	5108	broad.mit.edu	37	chr8	17804848	17804848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacataaagcagagcaaGctattgcagtgatggatgat	15	9	11	6	0	0	3	0	2	0	1	0	4	0	4	0	1	6	5	0	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17804848G>A	ENST00000325083.8	+	7	1376	c.937G>A	c.(937-939)Gct>Act	p.A313T	PCM1_ENST00000524226.1_Missense_Mutation_p.A313T|PCM1_ENST00000519253.1_Missense_Mutation_p.A313T|PCM1_ENST00000518537.1_Missense_Mutation_p.A352T	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	313					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGCAGAGCAAGCTATTGCAGT	0.403			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								53	150					0	0	0	0	A	17804848	G	A	17804848	3	1	408	1	0	0	0	0	1	0	0	0	11655	971	34	4	955	4	PCM1	8	17804848	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	357818	17804848	128559174	1644	79462											
PCM1	5108	broad.mit.edu	37	chr8	17814832	17814832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatagtaatgcacagtgtgTttctaataatagagatgggc	13	13	10	5	0	2	1	1	0	1	1	2	2	2	1	0	1	1	3	0	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17814832T>C	ENST00000325083.8	+	12	2145	c.1706T>C	c.(1705-1707)gTt>gCt	p.V569A	PCM1_ENST00000524226.1_Missense_Mutation_p.V569A|PCM1_ENST00000519253.1_Missense_Mutation_p.V569A	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	569					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCACAGTGTGTTTCTAATAAT	0.368			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								13	170					0	0	0	0	C	17814832	T	C	17814832	3	2	408	1	0	0	0	0	1	0	0	0	11655	1725	60	5	1744	5	PCM1	8	17814832	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9984	17814832	128549190	1645	79463											
PCM1	5108	broad.mit.edu	37	chr8	17822142	17822142	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaggagatgaagacggttAcctttctgaaggaattgttc	13	11	12	5	1	1	5	0	2	1	3	2	7	1	6	1	3	1	2	1	3	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17822142A>C	ENST00000325083.8	+	18	3159	c.2720A>C	c.(2719-2721)tAc>tCc	p.Y907S	PCM1_ENST00000524226.1_Missense_Mutation_p.Y908S|PCM1_ENST00000519253.1_Missense_Mutation_p.Y907S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	907					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GAAGACGGTTACCTTTCTGAA	0.428			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								5	89					0	0	0	0	C	17822142	A	C	17822142	3	2	408	1	0	0	0	0	1	0	0	0	11655	391	14	5	2782	5	PCM1	8	17822142	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7310	17822142	128541880	1646	79464											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316155	19316155	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgttcggtagatcccTgttaagagaaaaacaaggaa	14	11	9	7	1	1	2	0	0	1	2	3	4	2	3	1	2	1	3	1	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:19316155T>C	ENST00000454498.2	-	5	1648		c.e5-2		CSGALNACT1_ENST00000544602.1_Splice_Site|CSGALNACT1_ENST00000311540.4_Splice_Site|CSGALNACT1_ENST00000522854.1_Splice_Site|CSGALNACT1_ENST00000518542.1_Splice_Site|CSGALNACT1_ENST00000332246.6_Splice_Site	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1						anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGTAGATCCCTGTTAAGAGAA	0.398													50	148					0	0	0	0	C	19316155	T	C	19316155	5	2	408	1	0	0	0	0	0	0	1	0	3970	1594	55	5	989	5	CSGALNACT1	8	19316155	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1494013	19316155	127047867	1647	79465											
ATP6V1B2	526	broad.mit.edu	37	chr8	20073950	20073950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccccatcccagacttgActggctacattacagagggg	10	8	9	14	0	1	3	1	1	0	2	2	3	2	3	3	3	2	1	3	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:20073950A>G	ENST00000276390.2	+	11	1145	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	369					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CCCAGACTTGACTGGCTACAT	0.498													11	86					0	0	0	0	G	20073950	A	G	20073950	3	3	408	1	0	0	0	0	1	0	0	0	1183	275	10	5	1147	5	ATP6V1B2	8	20073950	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	757795	20073950	126290072	1648	79466											
PIWIL2	55124	broad.mit.edu	37	chr8	22211843	22211843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtggcattcctacgcattAtgtctgtgttctcaacaccg	7	14	8	12	2	2	0	1	0	2	0	4	0	3	0	2	1	2	3	2	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:22211843A>G	ENST00000356766.6	+	22	2865	c.2717A>G	c.(2716-2718)tAt>tGt	p.Y906C	PIWIL2_ENST00000454009.2_Missense_Mutation_p.Y906C|PIWIL2_ENST00000521356.1_Intron	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	906	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCTACGCATTATGTCTGTGTT	0.458													5	119					0	0	0	0	G	22211843	A	G	22211843	3	3	408	1	0	0	0	0	1	0	0	0	12030	449	16	5	2799	5	PIWIL2	8	22211843	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2137893	22211843	124152179	1649	79467											
PEBP4	157310	broad.mit.edu	37	chr8	22785223	22785223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaccagcctcattgtccaaCccatgggcacctggaacaga	11	7	9	14	0	1	2	1	1	0	1	2	3	2	3	5	2	3	1	5	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:22785223C>T	ENST00000256404.6	-	2	96	c.5G>A	c.(4-6)gGt>gAt	p.G2D	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	2						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CATTGTCCAACCCATGGGCAC	0.612													30	94					0	0	0	0	T	22785223	C	T	22785223	3	4	408	1	0	0	0	0	1	0	0	0	11785	507	18	4	702	4	PEBP4	8	22785223	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	573380	22785223	123578799	1650	79468											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864404	22864404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccgccgccacctgcagTtctggaagtcccacctccgc	5	8	8	20	3	2	0	0	0	2	0	5	1	4	1	7	1	1	2	7	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:22864404T>C	ENST00000251822.6	+	5	1183	c.646T>C	c.(646-648)Ttc>Ctc	p.F216L	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.F238L|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.F223L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	216					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCACCTGCAGTTCTGGAAGTC	0.642													19	194					0	0	0	0	C	22864404	T	C	22864404	3	2	408	1	0	0	0	0	1	0	0	0	13417	1725	60	5	745	5	RHOBTB2	8	22864404	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	79181	22864404	123499618	1651	79469											
TNFRSF10D	8793	broad.mit.edu	37	chr8	22995432	22995432	+	Frame_Shift_Del	DEL	T	T	-																															catcttcttcataaaagagcTtttcggagcccaccagttgg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:22995432delT	ENST00000312584.3	-	9	1206	c.1112delA	c.(1111-1113)agfs	p.K371fs		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	371					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ATAAAAGAGCTTTTCGGAGCC	0.483													26	81	---	---	---	---					-	22995432	T	-	22995432	7	5	408	1	0	1	0	1	0	0	0	0	16377	1609	56	0	52	0	TNFRSF10D	8	22995432	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	131028	22995432	123368590	1652	79470											
CHMP7	91782	broad.mit.edu	37	chr8	23116637	23116637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggggtaacaaatggctTaggtgagtggacaaggtggt	10	10	18	3	0	0	1	0	1	0	0	0	2	0	2	0	8	1	2	0	8	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23116637T>C	ENST00000397677.1	+	9	1766	c.1118T>C	c.(1117-1119)tTa>tCa	p.L373S	CHMP7_ENST00000313219.7_Missense_Mutation_p.L373S|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	373					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACAAATGGCTTAGGTGAGTGG	0.448													4	186					0	0	0	0	C	23116637	T	C	23116637	3	2	408	1	0	0	0	0	1	0	0	0	3390	1764	61	5	1148	5	CHMP7	8	23116637	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	121205	23116637	123247385	1653	79471											
LOXL2	4017	broad.mit.edu	37	chr8	23156368	23156368	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctatgtggcagttgtacatCcagatgcggtggccgtcata	8	11	12	10	2	1	1	1	0	0	1	2	1	2	1	3	3	2	3	3	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23156368C>T	ENST00000389131.3	-	13	2595	c.2226G>A	c.(2224-2226)tgG>tgA	p.W742*		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	742	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGTTGTACATCCAGATGCGGT	0.542													21	141					0	0	0	0	T	23156368	C	T	23156368	4	4	408	1	0	0	0	0	0	1	0	0	8964	856	30	2	106	2	LOXL2	8	23156368	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	39731	23156368	123207654	1654	79472											
LOXL2	4017	broad.mit.edu	37	chr8	23225645	23225645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactggccatcatagtacaCctccacccggccctcgctgt	7	8	7	19	2	1	0	1	0	0	0	3	0	2	0	6	2	1	2	6	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23225645C>T	ENST00000389131.3	-	2	589	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	74	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCATAGTACACCTCCACCCGG	0.657													33	113					0	0	0	0	T	23225645	C	T	23225645	3	4	408	1	0	0	0	0	1	0	0	0	8964	507	18	4	2156	4	LOXL2	8	23225645	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	69277	23225645	123138377	1655	79473											
ENTPD4	9583	broad.mit.edu	37	chr8	23292926	23292926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcctgtggaggtcagcaTgagaggcgtacagtcctcgg	9	8	15	9	2	1	1	1	1	0	1	3	3	2	2	2	4	3	2	2	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23292926T>C	ENST00000358689.4	-	11	1674	c.1439A>G	c.(1438-1440)cAt>cGt	p.H480R	ENTPD4_ENST00000417069.2_Missense_Mutation_p.H472R|ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000356206.6_Missense_Mutation_p.H472R	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	480					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GAGGTCAGCATGAGAGGCGTA	0.473													4	70					0	0	0	0	C	23292926	T	C	23292926	3	2	408	1	0	0	0	0	1	0	0	0	5179	1464	51	5	423	5	ENTPD4	8	23292926	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	67281	23292926	123071096	1656	79474											
ENTPD4	9583	broad.mit.edu	37	chr8	23305363	23305363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattggggttattggtgTctgtagcttcaatgtcggta	7	16	12	6	1	3	0	2	0	1	0	4	0	3	0	0	4	1	4	0	4	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23305363T>C	ENST00000358689.4	-	4	477	c.242A>G	c.(241-243)gAc>gGc	p.D81G	ENTPD4_ENST00000417069.2_Missense_Mutation_p.D81G|ENTPD4_ENST00000356206.6_Missense_Mutation_p.D81G	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	81					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTTATTGGTGTCTGTAGCTTC	0.443													4	184					0	0	0	0	C	23305363	T	C	23305363	3	2	408	1	0	0	0	0	1	0	0	0	5179	1667	58	5	1648	5	ENTPD4	8	23305363	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	12437	23305363	123058659	1657	79475											
ADAM28	10863	broad.mit.edu	37	chr8	24193018	24193018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcgacctgcctgaaatGtgtaatggtaaatctggtaa	12	11	12	6	1	1	1	0	1	1	0	1	3	1	1	2	2	2	3	2	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:24193018G>A	ENST00000265769.4	+	14	1541	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.M224I|ADAM28_ENST00000437154.2_Missense_Mutation_p.M477I|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.M244I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	477	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCCTGAAATGTGTAATGGTA	0.453													10	44					0	0	0	0	A	24193018	G	A	24193018	3	1	408	1	0	0	0	0	1	0	0	0	246	1377	48	4	1485	4	ADAM28	8	24193018	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	887655	24193018	122171004	1658	79476											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254870	24254870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgccgtctttacatctaaCcaggaggaacaagacccagc	13	7	8	13	1	2	1	0	0	2	1	2	3	2	3	3	2	5	0	3	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:24254870C>A	ENST00000538205.1	+	7	838	c.291C>A	c.(289-291)aaC>aaA	p.N97K	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.N176K|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N97K|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	176					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTACATCTAACCAGGAGGAAC	0.458													8	348					0.000157383	0.00015972	1	0	A	24254870	C	A	24254870	3	1	408	1	0	0	0	0	1	0	0	0	254	506	18	4	550	4	ADAMDEC1	8	24254870	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	61852	24254870	122109152	1659	79477											
NEFM	4741	broad.mit.edu	37	chr8	24771438	24771438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtggtcccgcggctcGcccagcaccgtgtcctcctc	3	8	11	19	5	0	0	0	0	0	0	6	0	3	0	5	2	1	2	5	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:24771438G>A	ENST00000221166.5	+	1	914	c.132G>A	c.(130-132)tcG>tcA	p.S44S	NEFM_ENST00000437366.2_Silent_p.S44S|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Silent_p.S44S|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	44	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCCGCGGCTCGCCCAGCACCG	0.692													28	75					0	0	0	0	A	24771438	G	A	24771438	2	1	408	1	0	0	0	0	0	0	0	1	10386	1074	38	1		1	NEFM	8	24771438	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	516568	24771438	121592584	1660	79478											
DOCK5	80005	broad.mit.edu	37	chr8	25198426	25198426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaaagatggagatgagttTaataattcaattcgccagtt	15	12	9	5	1	1	3	1	1	0	2	2	4	1	3	1	1	1	3	1	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25198426T>C	ENST00000276440.7	+	23	2405	c.2361T>C	c.(2359-2361)ttT>ttC	p.F787F		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	787						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			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)		GAGATGAGTTTAATAATTCAA	0.383													12	36					0	0	0	0	C	25198426	T	C	25198426	2	2	408	1	0	0	0	0	0	0	0	1	4726	1751	61	5		5	DOCK5	8	25198426	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	426988	25198426	121165596	1661	79479											
DOCK5	80005	broad.mit.edu	37	chr8	25258486	25258486	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccgcatccatggggagaaActcacagagcagctgaagcc	13	5	11	12	1	1	3	1	1	0	2	3	4	3	3	3	2	4	3	3	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25258486A>G	ENST00000276440.7	+	47	4874	c.4830A>G	c.(4828-4830)aaA>aaG	p.K1610K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1610	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			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)		ATGGGGAGAAACTCACAGAGC	0.488													27	367					0	0	0	0	G	25258486	A	G	25258486	2	3	408	1	0	0	0	0	0	0	0	1	4726	40	2	5		5	DOCK5	8	25258486	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	60060	25258486	121105536	1662	79480											
CDCA2	157313	broad.mit.edu	37	chr8	25325857	25325857	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggatgctgaaggaaaagtAattggtctccagatattcaa	15	10	10	6	1	2	2	1	1	1	1	3	4	2	4	1	3	1	2	1	3	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25325857A>G	ENST00000330560.3	+	6	1140	c.663A>G	c.(661-663)gtA>gtG	p.V221V	CDCA2_ENST00000380665.3_Silent_p.V206V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	221					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAGGAAAAGTAATTGGTCTCC	0.423													41	91					0	0	0	0	G	25325857	A	G	25325857	2	3	408	1	0	0	0	0	0	0	0	1	3115	349	13	5		5	CDCA2	8	25325857	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	67371	25325857	121038165	1663	79481											
CDCA2	157313	broad.mit.edu	37	chr8	25364677	25364677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaggaaagatagaagacGttccatgtgttattctgatg	14	11	11	5	1	1	5	0	1	1	4	2	6	2	6	1	1	0	2	1	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25364677G>A	ENST00000330560.3	+	15	2972	c.2495G>A	c.(2494-2496)cGt>cAt	p.R832H	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R817H	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	832					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GATAGAAGACGTTCCATGTGT	0.398													18	83					0	0	0	0	A	25364677	G	A	25364677	3	1	408	1	0	0	0	0	1	0	0	0	3115	1145	40	1	2549	1	CDCA2	8	25364677	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	38820	25364677	120999345	1664	79482											
CDCA2	157313	broad.mit.edu	37	chr8	25365243	25365243	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattgaacataatggagaaAgaaagcagtaattgacattt	18	10	10	3	0	0	4	0	2	0	2	0	6	0	5	0	2	2	2	0	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25365243A>C	ENST00000330560.3	+	15	3538	c.3061A>C	c.(3061-3063)Aga>Cga	p.R1021R	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.R1006R	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1021					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TAATGGAGAAAGAAAGCAGTA	0.453													26	114					0	0	0	0	C	25365243	A	C	25365243	2	2	408	1	0	0	0	0	0	0	0	1	3115	64	3	5		5	CDCA2	8	25365243	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	566	25365243	120998779	1665	79483											
EBF2	64641	broad.mit.edu	37	chr8	25715941	25715941	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattcatactgttgctggaGgtactgtaattagactgttg	9	15	10	7	0	1	1	1	0	0	1	1	2	1	2	1	2	3	5	1	2	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25715941G>T	ENST00000520164.1	-	14	1959	c.1422C>A	c.(1420-1422)acC>acA	p.T474T	EBF2_ENST00000408929.3_Silent_p.T326T|EBF2_ENST00000535548.1_Silent_p.T205T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	474	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTTGCTGGAGGTACTGTAAT	0.517													9	135					0.000442599	0.000448264	1	0	T	25715941	G	T	25715941	2	4	408	1	0	0	0	0	0	0	0	1	4917	987	35	4		4	EBF2	8	25715941	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	350698	25715941	120648081	1666	79484											
EBF2	64641	broad.mit.edu	37	chr8	25718726	25718726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcagcaatgtctgcggctCgcttcaaaatgatgtcctac	9	12	8	12	2	3	1	2	1	1	0	5	1	4	1	1	1	3	3	1	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25718726C>T	ENST00000520164.1	-	13	1718	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	EBF2_ENST00000408929.3_Missense_Mutation_p.R246Q|EBF2_ENST00000535548.1_Missense_Mutation_p.R125Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	394					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTCTGCGGCTCGCTTCAAAAT	0.488													65	100					0	0	0	0	T	25718726	C	T	25718726	3	4	408	1	0	0	0	0	1	0	0	0	4917	884	31	1	562	1	EBF2	8	25718726	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2785	25718726	120645296	1667	79485											
PPP2R2A	5520	broad.mit.edu	37	chr8	26220330	26220330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actattcggctatgtgacatGagggcatctgccctctgtga	8	12	11	10	1	2	3	0	3	2	0	3	3	2	3	1	2	1	2	1	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:26220330G>A	ENST00000380737.3	+	7	1097	c.768G>A	c.(766-768)atG>atA	p.M256I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.M256I(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TATGTGACATGAGGGCATCTG	0.373													8	44					0	0	0	0	A	26220330	G	A	26220330	3	1	408	1	0	0	0	0	1	0	0	0	12460	1290	45	2	835	2	PPP2R2A	8	26220330	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	501604	26220330	120143692	1668	79486											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227699	26227699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcagaatgtttgacagaAacacaaagcgagacataacc	17	8	7	9	1	2	4	1	1	1	3	2	5	2	4	1	0	3	1	1	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:26227699A>G	ENST00000380737.3	+	10	1443	c.1114A>G	c.(1114-1116)Aac>Gac	p.N372D	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.N382D	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GTTTGACAGAAACACAAAGCG	0.413													15	64					0	0	0	0	G	26227699	A	G	26227699	3	3	408	1	0	0	0	0	1	0	0	0	12460	14	1	5	1193	5	PPP2R2A	8	26227699	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7369	26227699	120136323	1669	79487											
CHRNA2	1135	broad.mit.edu	37	chr8	27321457	27321457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccagtgcacagtgcccGtggagaagaggtgggccttg	8	6	16	11	1	0	2	0	0	0	2	0	3	0	2	3	3	2	2	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:27321457G>A	ENST00000407991.1	-	6	1111	c.503C>T	c.(502-504)aCg>aTg	p.T168M	CHRNA2_ENST00000240132.2_Missense_Mutation_p.T153M|CHRNA2_ENST00000520933.2_Missense_Mutation_p.T168M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	168						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CACAGTGCCCGTGGAGAAGAG	0.597													34	119					0	0	0	0	A	27321457	G	A	27321457	3	1	408	1	0	0	0	0	1	0	0	0	3412	1145	40	1	1094	1	CHRNA2	8	27321457	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1093758	27321457	119042565	1670	79488											
CHRNA2	1135	broad.mit.edu	37	chr8	27327319	27327319	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagtccaaagcgcacaaTcaccacgtctgaagtgttgg	12	7	11	11	2	2	1	1	1	1	0	3	2	3	2	2	2	1	2	2	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:27327319T>A	ENST00000407991.1	-	3	861	c.253A>T	c.(253-255)Att>Ttt	p.I85F	CHRNA2_ENST00000240132.2_Intron|CHRNA2_ENST00000520933.2_Missense_Mutation_p.I85F	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	85						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AAGCGCACAATCACCACGTCT	0.627													53	264					0	0	0	0	A	27327319	T	A	27327319	3	1	408	1	0	0	0	0	1	0	0	0	3412	1435	50	5	1356	5	CHRNA2	8	27327319	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5862	27327319	119036703	1671	79489											
EPHX2	2053	broad.mit.edu	37	chr8	27348771	27348771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgacggggtgctggcgCtgccagcggtgttcggcgtc	3	9	17	12	5	0	1	0	1	0	0	2	1	0	1	2	5	3	3	2	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:27348771C>T	ENST00000521400.1	+	1	476	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Silent_p.L16L|EPHX2_ENST00000380476.3_5'UTR|EPHX2_ENST00000518379.1_Silent_p.L16L|EPHX2_ENST00000521780.1_5'UTR	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	16	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGTGCTGGCGCTGCCAGCGGT	0.746													4	25					0	0	0	0	T	27348771	C	T	27348771	2	4	408	1	0	0	0	0	0	0	0	1	5218	796	28	4		4	EPHX2	8	27348771	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	21452	27348771	119015251	1672	79490											
PBK	55872	broad.mit.edu	37	chr8	27668686	27668686	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggttatgaaggcaggagcTacaaatcacgaaaaggcaag	17	6	12	6	1	1	1	1	1	0	0	1	3	1	2	0	4	2	4	0	4	7	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:27668686T>C	ENST00000522944.1	-	7	988		c.e7-2		ESCO2_ENST00000397418.2_Intron|PBK_ENST00000301905.4_Intron			Q96KB5	TOPK_HUMAN	PDZ binding kinase						mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		AGGCAGGAGctacaaatcacg	0.443													9	36					0	0	0	0	C	27668686	T	C	27668686	5	2	408	1	0	0	0	0	0	0	1	0	11559	1537	53	5		5	PBK	8	27668686	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	319915	27668686	118695336	1673	79491											
ZNF395	55893	broad.mit.edu	37	chr8	28210819	28210819	+	Frame_Shift_Del	DEL	G	G	-																															gcctgggggtgggggggcgaGggggtggagacaccactgct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:28210819delG	ENST00000344423.5	-	5	821	c.690delC	c.(688-690)ccfs	p.P230fs	ZNF395_ENST00000523202.1_Frame_Shift_Del_p.P230fs|ZNF395_ENST00000523095.1_Frame_Shift_Del_p.P230fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	230					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGGGGGCGAGGGGGTGGAGA	0.622													20	41	---	---	---	---					-	28210819	G	-	28210819	7	5	408	1	0	1	0	1	0	0	0	0	17976	987	35	0	875	0	ZNF395	8	28210819	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	542133	28210819	118153203	1674	79492											
ZNF395	55893	broad.mit.edu	37	chr8	28218619	28218619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggaccgctttccaaggCgtcgggacaggacactcgcc	8	5	15	13	4	0	0	0	0	0	0	3	4	1	4	3	5	0	1	3	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:28218619C>T	ENST00000344423.5	-	2	154	c.23G>A	c.(22-24)cGc>cAc	p.R8H	ZNF395_ENST00000523202.1_Missense_Mutation_p.R8H|ZNF395_ENST00000523095.1_Missense_Mutation_p.R8H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	8					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CTTTCCAAGGCGTCGGGACAG	0.677													34	60					0	0	0	0	T	28218619	C	T	28218619	3	4	408	1	0	0	0	0	1	0	0	0	17976	768	27	1	1554	1	ZNF395	8	28218619	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	7800	28218619	118145403	1675	79493											
KIF13B	23303	broad.mit.edu	37	chr8	28980935	28980935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggggaccatcaccgCgttcctctcctcagttaggg	8	8	12	13	2	3	1	2	0	1	1	5	2	4	2	4	3	1	3	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:28980935C>T	ENST00000524189.1	-	28	3465	c.3427G>A	c.(3427-3429)Gcg>Acg	p.A1143T	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1143					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.A1143T(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCATCACCGCGTTCCTCTCC	0.542													81	116					0	0	0	0	T	28980935	C	T	28980935	3	4	408	1	0	0	0	0	1	0	0	0	8326	768	27	1	2105	1	KIF13B	8	28980935	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	762316	28980935	117383087	1676	79494											
DUSP4	1846	broad.mit.edu	37	chr8	29195914	29195914	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttgggcagtccgaggaGacattcaacagagccgtgat	10	9	14	8	2	1	3	1	1	0	2	2	5	2	3	2	3	2	2	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:29195914G>C	ENST00000240100.2	-	3	1073	c.684C>G	c.(682-684)gtC>gtG	p.V228V	DUSP4_ENST00000240101.2_Silent_p.V137V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	228	Tyrosine-protein phosphatase.				endoderm formation|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		AGTCCGAGGAGACATTCAACA	0.557													4	111					0	0	0	0	C	29195914	G	C	29195914	2	2	408	1	0	0	0	0	0	0	0	1	4863	929	33	2		2	DUSP4	8	29195914	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	214979	29195914	117168108	1677	79495											
TMEM66	51669	broad.mit.edu	37	chr8	29927269	29927269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggaggagaatactgccCgtcactcaggaacagcttat	11	8	12	10	2	2	1	2	0	0	1	2	4	2	3	1	4	4	1	1	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:29927269C>T	ENST00000256255.6	-	3	846	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	TMEM66_ENST00000536273.1_Missense_Mutation_p.G25R|TMEM66_ENST00000545648.1_Missense_Mutation_p.G25R	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	197						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GAATACTGCCCGTCACTCAGG	0.502													59	99					0	0	0	0	T	29927269	C	T	29927269	3	4	408	1	0	0	0	0	1	0	0	0	16289	652	23	1	446	1	TMEM66	8	29927269	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	731355	29927269	116436753	1678	79496											
TMEM66	51669	broad.mit.edu	37	chr8	29931572	29931572	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccgcagcaacattctgtCtgaaacagcaagaaaacaga	17	6	7	11	1	2	3	0	1	2	2	3	3	3	3	1	0	5	3	1	0	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:29931572C>T	ENST00000256255.6	-	2	361		c.e2-1		TMEM66_ENST00000536273.1_Intron|TMEM66_ENST00000545648.1_Splice_Site|TMEM66_ENST00000521083.1_Splice_Site	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66							integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AACATTCTGTCTGAAACAGCA	0.463													9	120					0	0	0	0	T	29931572	C	T	29931572	5	4	408	1	0	0	0	0	0	0	1	0	16289	927	32	2	936	2	TMEM66	8	29931572	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4303	29931572	116432450	1679	79497											
RBPMS	11030	broad.mit.edu	37	chr8	30402247	30402247	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctatccagctaacagaTccaccctcaagagattaatg	15	8	5	13	0	1	2	1	0	0	2	3	3	3	2	4	0	2	1	4	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:30402247T>A	ENST00000520191.1	+	6	752	c.322T>A	c.(322-324)Tcc>Acc	p.S108T	RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000517860.1_Missense_Mutation_p.S212T|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000520161.1_Intron			Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		AGCTAACAGATCCACCCTCAA	0.488													18	56					0	0	0	0	A	30402247	T	A	30402247	3	1	408	1	0	0	0	0	1	0	0	0	13245	1450	50	5		5	RBPMS	8	30402247	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	470675	30402247	115961775	1680	79498											
TEX15	56154	broad.mit.edu	37	chr8	30694437	30694437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccgaaaattagaagcAggtatttgagattgaaaata	16	10	11	4	1	0	3	0	2	0	2	0	5	0	3	1	2	2	3	1	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:30694437A>G	ENST00000256246.2	-	3	8288	c.8214T>C	c.(8212-8214)ccT>ccC	p.P2738P		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2738										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTAGAAGCAGGTATTTGAG	0.398													29	135					0	0	0	0	G	30694437	A	G	30694437	2	3	408	1	0	0	0	0	0	0	0	1	15873	175	7	5		5	TEX15	8	30694437	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	292190	30694437	115669585	1681	79499											
TEX15	56154	broad.mit.edu	37	chr8	30700428	30700428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctaaaacattttcttctgTgataaaaatattatccatgt	14	17	4	6	0	3	1	0	1	3	0	4	1	4	1	1	0	1	0	1	0	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:30700428T>C	ENST00000256246.2	-	1	6180	c.6106A>G	c.(6106-6108)Aca>Gca	p.T2036A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2036										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTCTTCTGTGATAAAAATA	0.313													7	26					0	0	0	0	C	30700428	T	C	30700428	3	2	408	1	0	0	0	0	1	0	0	0	15873	1696	59	5	2279	5	TEX15	8	30700428	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5991	30700428	115663594	1682	79500											
PROSC	11212	broad.mit.edu	37	chr8	37632908	37632908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccatcgtggagcacataaAcgccaagtgtcctaacctgg	12	7	10	12	2	0	0	0	0	0	0	2	1	1	1	4	2	4	1	4	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:37632908A>G	ENST00000328195.3	+	6	573	c.506A>G	c.(505-507)aAc>aGc	p.N169S		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	169							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GAGCACATAAACGCCAAGTGT	0.478													67	285					0	0	0	0	G	37632908	A	G	37632908	3	3	408	1	0	0	0	0	1	0	0	0	12639	43	2	5	528	5	PROSC	8	37632908	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6932480	37632908	108731114	1683	79501											
BRF2	55290	broad.mit.edu	37	chr8	37704452	37704452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcttcactatctgcatgtaAgtgctagaaaacacatccaa	15	10	6	10	0	2	1	1	0	1	1	3	1	3	1	1	0	4	4	1	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:37704452A>G	ENST00000220659.6	-	3	576	c.456T>C	c.(454-456)acT>acC	p.T152T	BRF2_ENST00000520601.1_Silent_p.T152T	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	152					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCTGCATGTAAGTGCTAGAAA	0.527													123	390					0	0	0	0	G	37704452	A	G	37704452	2	3	408	1	0	0	0	0	0	0	0	1	1519	59	3	5		5	BRF2	8	37704452	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	71544	37704452	108659570	1684	79502											
ASH2L	9070	broad.mit.edu	37	chr8	37967961	37967961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgccatcacagtgggaatAcctatttcctccggaagcaa	11	10	8	12	1	2	0	1	0	1	0	4	2	4	2	4	2	3	1	4	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:37967961A>G	ENST00000343823.6	+	4	775	c.466A>G	c.(466-468)Acc>Gcc	p.T156A	ASH2L_ENST00000545394.1_Missense_Mutation_p.T17A|ASH2L_ENST00000250635.7_Missense_Mutation_p.T62A|ASH2L_ENST00000521652.1_Missense_Mutation_p.T62A|ASH2L_ENST00000428278.2_Missense_Mutation_p.T62A	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	156					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CAGTGGGAATACCTATTTCCT	0.423													21	81					0	0	0	0	G	37967961	A	G	37967961	3	3	408	1	0	0	0	0	1	0	0	0	1046	391	14	5	480	5	ASH2L	8	37967961	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	263509	37967961	108396061	1685	79503											
BAG4	9530	broad.mit.edu	37	chr8	38066679	38066679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatccctggccttcatcagCgccctcagcaccacccggca	7	8	7	19	2	3	0	3	0	0	0	4	0	4	0	5	2	2	2	5	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:38066679C>T	ENST00000287322.4	+	4	1053	c.782C>T	c.(781-783)gCg>gTg	p.A261V	BAG4_ENST00000432471.2_Missense_Mutation_p.A225V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	261					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CCTTCATCAGCGCCCTCAGCA	0.572													24	75					0	0	0	0	T	38066679	C	T	38066679	3	4	408	1	0	0	0	0	1	0	0	0	1293	768	27	1	796	1	BAG4	8	38066679	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	98718	38066679	108297343	1686	79504											
ADAM32	203102	broad.mit.edu	37	chr8	39080605	39080605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaagcacatcctgaatGtgacatcgctgaaaattgta	14	9	9	9	2	0	3	0	3	0	0	2	4	1	3	2	0	1	3	2	0	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:39080605G>A	ENST00000379907.4	+	14	1500	c.1373G>A	c.(1372-1374)tGt>tAt	p.C458Y	ADAM32_ENST00000519315.1_Missense_Mutation_p.C352Y|ADAM32_ENST00000437682.2_Missense_Mutation_p.C359Y	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	458	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CATCCTGAATGTGACATCGCT	0.328													8	13					0	0	0	0	A	39080605	G	A	39080605	3	1	408	1	0	0	0	0	1	0	0	0	249	1377	48	4	1427	4	ADAM32	8	39080605	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1013926	39080605	107283417	1687	79505											
ADAM18	8749	broad.mit.edu	37	chr8	39564395	39564395	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggttccccagggggtagTattgatgatggaaattttca	9	15	12	5	0	1	2	1	2	0	0	2	3	2	3	2	4	0	3	2	4	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:39564395T>C	ENST00000265707.5	+	18	2034	c.1989T>C	c.(1987-1989)agT>agC	p.S663S	ADAM18_ENST00000379866.1_Silent_p.S639S|ADAM18_ENST00000541111.1_Silent_p.S77S|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	663					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGGGGGTAGTATTGATGATG	0.313													9	51					0	0	0	0	C	39564395	T	C	39564395	2	2	408	1	0	0	0	0	0	0	0	1	239	1635	57	5		5	ADAM18	8	39564395	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	483790	39564395	106799627	1688	79506											
IDO2	169355	broad.mit.edu	37	chr8	39836655	39836655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcccacctggtcctgagcTtcctcaccatgggttatgtc	5	12	10	14	0	1	1	1	1	0	0	4	1	3	1	5	3	1	2	5	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:39836655T>C	ENST00000502986.2	+	4	546	c.304T>C	c.(304-306)Ttc>Ctc	p.F102L	IDO2_ENST00000389060.4_Missense_Mutation_p.F89L|IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	89					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGTCCTGAGCTTCCTCACCAT	0.617													7	19					0	0	0	0	C	39836655	T	C	39836655	3	2	408	1	0	0	0	0	1	0	0	0	7555	1609	56	5	318	5	IDO2	8	39836655	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	272260	39836655	106527367	1689	79507											
IDO2	169355	broad.mit.edu	37	chr8	39872932	39872932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctggcagagctgcggagCtatcacatcaccatggtcac	9	7	11	14	1	3	1	3	0	0	1	3	2	3	2	2	3	3	3	2	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:39872932C>T	ENST00000502986.2	+	11	1316	c.1074C>T	c.(1072-1074)agC>agT	p.S358S	IDO2_ENST00000389060.4_Silent_p.S345S|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	345					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AGCTGCGGAGCTATCACATCA	0.542													4	82					0	0	0	0	T	39872932	C	T	39872932	2	4	408	1	0	0	0	0	0	0	0	1	7555	796	28	4		4	IDO2	8	39872932	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	36277	39872932	106491090	1690	79508											
AGPAT6	137964	broad.mit.edu	37	chr8	41467239	41467239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattcgtcgaagtggtagtAgtaaggctctggacaacact	12	10	12	7	2	1	1	0	0	1	1	3	3	1	2	0	3	1	4	0	3	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:41467239A>G	ENST00000396987.3	+	4	1228	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	101					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			AAGTGGTAGTAGTAAGGCTCT	0.453													35	152					0	0	0	0	G	41467239	A	G	41467239	3	3	408	1	0	0	0	0	1	0	0	0	391	420	15	5	311	5	AGPAT6	8	41467239	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1594307	41467239	104896783	1691	79509											
AGPAT6	137964	broad.mit.edu	37	chr8	41467252	41467252	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagtagtaaggctctggAcaacactccagagttcgagc	11	9	12	9	1	1	1	0	0	1	1	3	3	2	2	1	3	2	5	1	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:41467252A>T	ENST00000396987.3	+	4	1241	c.314A>T	c.(313-315)gAc>gTc	p.D105V	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	105					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			AAGGCTCTGGACAACACTCCA	0.438													10	172					0	0	0	0	T	41467252	A	T	41467252	3	4	408	1	0	0	0	0	1	0	0	0	391	275	10	5	324	5	AGPAT6	8	41467252	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	13	41467252	104896770	1692	79510											
ANK1	286	broad.mit.edu	37	chr8	41552141	41552141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttcactctcttggtgacgGcattctccgggaacgttgcc	5	12	11	13	3	3	1	1	1	2	0	5	2	3	2	2	3	2	3	2	3	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:41552141G>A	ENST00000396942.1	-	28	3379	c.3296C>T	c.(3295-3297)gCc>gTc	p.A1099V	ANK1_ENST00000352337.4_Missense_Mutation_p.A1099V|ANK1_ENST00000396945.1_Missense_Mutation_p.A1099V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1099V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1099V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1140V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1099V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1099					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTGGTGACGGCATTCTCCGG	0.647													11	44					0	0	0	0	A	41552141	G	A	41552141	3	1	408	1	0	0	0	0	1	0	0	0	620	1203	42	4	2735	4	ANK1	8	41552141	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	84889	41552141	104811881	1693	79511											
POTEA	340441	broad.mit.edu	37	chr8	43157136	43157136	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgccctcatacttgctgTacgttgtggatcagcaagta	10	12	9	10	1	2	0	2	0	0	0	2	1	2	1	1	1	6	5	1	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:43157136T>C	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATACTTGCTGTACGTTGTGGA	0.318													13	81					0	0	0	0	C	43157136	T	C	43157136	1	2	408	0	1	0	0	0	0	0	0	0	12333	1638	57	5		5	POTEA	8	43157136	RNA	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1604995	43157136	103206886	1694	79512											
POTEA	340441	broad.mit.edu	37	chr8	43157155	43157155	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacgttgtggatcagcaagTatagttagtcttctacttca	10	15	9	7	1	4	0	2	0	2	0	4	1	4	1	0	1	3	5	0	1	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:43157155T>C	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATCAGCAAGTATAGTTAGTC	0.328													6	88					0	0	0	0	C	43157155	T	C	43157155	1	2	408	0	1	0	0	0	0	0	0	0	12333	1635	57	5		5	POTEA	8	43157155	RNA	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	19	43157155	103206867	1695	79513											
POTEA	340441	broad.mit.edu	37	chr8	43173691	43173691	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaatggtgatggtggAttagttccacaaagaaagag	13	9	14	5	0	0	3	0	1	0	2	1	4	1	4	1	4	0	3	1	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:43173691A>T	ENST00000522175.2	+	0	977							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGATGGTGGATTAGTTCCAC	0.413													13	154					0	0	0	0	T	43173691	A	T	43173691	1	4	408	0	1	0	0	0	0	0	0	0	12333	320	12	5		5	POTEA	8	43173691	RNA	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	16536	43173691	103190331	1696	79514											
PRKDC	5591	broad.mit.edu	37	chr8	48736553	48736553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtattctccaattgatctatAcagcctacaaaacaaatcaa	17	11	3	10	0	3	1	1	1	2	0	4	1	3	1	2	0	4	1	2	0	9	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:48736553A>G	ENST00000314191.2	-	65	8841	c.8785T>C	c.(8785-8787)Tat>Cat	p.Y2929H	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2929H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2930	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATTGATCTATACAGCCTACAA	0.358								Non-homologous end-joining					6	60					0	0	0	0	G	48736553	A	G	48736553	3	3	408	1	0	0	0	0	1	0	0	0	12601	391	14	5	3690	5	PRKDC	8	48736553	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5562862	48736553	97627469	1697	79515											
PRKDC	5591	broad.mit.edu	37	chr8	48815311	48815311	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctcgaatacaccgaccAcaaaaatctcttaaagtact	17	10	3	11	2	2	0	0	0	2	0	4	2	2	0	2	0	2	1	2	0	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:48815311A>G	ENST00000314191.2	-	27	3143	c.3087T>C	c.(3085-3087)tgT>tgC	p.C1029C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C1029C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1029					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACACCGACCACAAAAATCTC	0.393								Non-homologous end-joining					5	69					0	0	0	0	G	48815311	A	G	48815311	2	3	408	1	0	0	0	0	0	0	0	1	12601	157	6	5		5	PRKDC	8	48815311	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	78758	48815311	97548711	1698	79516											
PRKDC	5591	broad.mit.edu	37	chr8	48842449	48842449	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttggcatttcttactgtAatagaaagcaatttgtagaa	13	16	7	5	0	2	2	0	0	2	2	2	2	2	2	0	1	2	4	0	1	7	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:48842449A>G	ENST00000314191.2	-	18	2072	c.2016T>C	c.(2014-2016)atT>atC	p.I672I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.I672I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	672					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTCTTACTGTAATAGAAAGCA	0.323								Non-homologous end-joining					3	68					0	0	0	0	G	48842449	A	G	48842449	2	3	408	1	0	0	0	0	0	0	0	1	12601	358	13	5		5	PRKDC	8	48842449	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	27138	48842449	97521573	1699	79517											
ST18	9705	broad.mit.edu	37	chr8	53073971	53073971	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttttcgtccttgcactgTttgtatgagagggcgtttac	5	18	11	7	2	0	1	0	1	0	1	2	2	1	1	1	1	2	5	1	1	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:53073971T>C	ENST00000276480.7	-	14	2241	c.1558A>G	c.(1558-1560)Aca>Gca	p.T520A		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	520						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCTTGCACTGTTTGTATGAGA	0.423													27	154					0	0	0	0	C	53073971	T	C	53073971	3	2	408	1	0	0	0	0	1	0	0	0	15302	1725	60	5	1637	5	ST18	8	53073971	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4231522	53073971	93290051	1700	79518											
RB1CC1	9821	broad.mit.edu	37	chr8	53574192	53574192	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattttgcaacataatcaTcaactgatttgcgtgactca	13	14	6	8	1	3	3	3	3	0	0	3	3	3	3	0	0	4	1	0	0	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:53574192T>A	ENST00000025008.5	-	9	1784	c.1261A>T	c.(1261-1263)Atg>Ttg	p.M421L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.M421L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.M421L|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	421					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AACATAATCATCAACTGATTT	0.348													5	138					0	0	0	0	A	53574192	T	A	53574192	3	1	408	1	0	0	0	0	1	0	0	0	13181	1435	50	5	3587	5	RB1CC1	8	53574192	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	500221	53574192	92789830	1701	79519											
RB1CC1	9821	broad.mit.edu	37	chr8	53586550	53586550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtttcatcttgctgatgaAcagtactttgacaagattcc	11	15	7	8	0	2	4	1	3	1	1	3	4	3	4	1	0	3	3	1	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:53586550A>G	ENST00000025008.5	-	7	1380	c.857T>C	c.(856-858)gTt>gCt	p.V286A	RB1CC1_ENST00000435644.2_Missense_Mutation_p.V286A|RB1CC1_ENST00000539297.1_Missense_Mutation_p.V286A|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	286					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTGCTGATGAACAGTACTTTG	0.388													55	172					0	0	0	0	G	53586550	A	G	53586550	3	3	408	1	0	0	0	0	1	0	0	0	13181	43	2	5	3999	5	RB1CC1	8	53586550	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	12358	53586550	92777472	1702	79520											
RB1CC1	9821	broad.mit.edu	37	chr8	53586705	53586705	+	Frame_Shift_Del	DEL	C	C	-																															accagttcagtggatcttttCatctcagctttttctgagtc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:53586705delC	ENST00000025008.5	-	7	1225	c.702delG	c.(700-702)atfs	p.M234fs	RB1CC1_ENST00000539297.1_Frame_Shift_Del_p.M234fs|RB1CC1_ENST00000435644.2_Frame_Shift_Del_p.M234fs|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	234			M -> T (in dbSNP:rs17337252).		autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGGATCTTTTCATCTCAGCTT	0.428													20	321	---	---	---	---					-	53586705	C	-	53586705	7	5	408	1	0	1	0	1	0	0	0	0	13181	826	29	0	4154	0	RB1CC1	8	53586705	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	155	53586705	92777317	1703	79521											
OPRK1	4986	broad.mit.edu	37	chr8	54147381	54147381	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagatgacgacagcagcCagatgcagatattgatgatc	15	7	10	9	1	0	6	0	3	0	3	1	7	0	6	1	0	4	2	1	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:54147381C>T	ENST00000265572.3	-	3	845	c.548G>A	c.(547-549)tGg>tAg	p.W183*	OPRK1_ENST00000524278.1_Nonsense_Mutation_p.W94*|OPRK1_ENST00000520287.1_Nonsense_Mutation_p.W183*|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	183					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CGACAGCAGCCAGATGCAGAT	0.493													26	127					0	0	0	0	T	54147381	C	T	54147381	4	4	408	1	0	0	0	0	0	1	0	0	10956	595	21	4	602	4	OPRK1	8	54147381	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	560676	54147381	92216641	1704	79522											
RGS20	8601	broad.mit.edu	37	chr8	54866827	54866827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattattgaagagaaagcaaGgataatctatgaagactaca	19	9	8	5	0	1	4	0	2	1	2	1	6	1	5	0	1	2	1	0	1	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:54866827G>T	ENST00000297313.3	+	5	1027	c.935G>T	c.(934-936)aGg>aTg	p.R312M	RGS20_ENST00000344277.6_Missense_Mutation_p.R197M|RGS20_ENST00000522225.1_Missense_Mutation_p.R46M|RGS20_ENST00000276500.4_Missense_Mutation_p.R165M|RGS20_ENST00000517405.1_3'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	312	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAGAAAGCAAGGATAATCTAT	0.388													17	87					5.01169e-05	5.10218e-05	1	0	T	54866827	G	T	54866827	3	4	408	1	0	0	0	0	1	0	0	0	13386	1000	35	4	1026	4	RGS20	8	54866827	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	719446	54866827	91497195	1705	79523											
TCEA1	6917	broad.mit.edu	37	chr8	54883013	54883013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattggttcatcagcactaCgggtttgtacctgcagcaaa	10	12	9	10	1	3	0	3	0	0	0	3	0	3	0	1	2	5	6	1	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:54883013C>T	ENST00000521604.2	-	9	1239	c.836G>A	c.(835-837)cGt>cAt	p.R279H	TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Missense_Mutation_p.R95H|TCEA1_ENST00000396401.3_Missense_Mutation_p.R258H	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	279					positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATCAGCACTACGGGTTTGTAC	0.303			T	PLAG1	salivary adenoma								11	16					0	0	0	0	T	54883013	C	T	54883013	3	4	408	1	0	0	0	0	1	0	0	0	15761	536	19	1	77	1	TCEA1	8	54883013	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	16186	54883013	91481009	1706	79524											
RP1	6101	broad.mit.edu	37	chr8	55537721	55537721	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttctgctagttgggagAatgctactgtggacacagat	10	11	13	7	0	1	2	0	0	1	2	1	4	1	3	0	2	3	5	0	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:55537721A>T	ENST00000220676.1	+	4	1427	c.1279A>T	c.(1279-1281)Aat>Tat	p.N427Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	427					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGTTGGGAGAATGCTACTGT	0.448													32	134					0	0	0	0	T	55537721	A	T	55537721	3	4	408	1	0	0	0	0	1	0	0	0	13617	246	9	5	1289	5	RP1	8	55537721	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	654708	55537721	90826301	1707	79525											
RP1	6101	broad.mit.edu	37	chr8	55542033	55542033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagtcagaaagagtatGcacatctgtcactcattcct	12	12	6	11	0	6	2	5	0	1	2	7	2	7	2	1	0	1	2	1	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:55542033G>A	ENST00000220676.1	+	4	5739	c.5591G>A	c.(5590-5592)tGc>tAc	p.C1864Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1864					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAGAGTATGCACATCTGTC	0.413													9	66					0	0	0	0	A	55542033	G	A	55542033	3	1	408	1	0	0	0	0	1	0	0	0	13617	1319	46	4	5601	4	RP1	8	55542033	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4312	55542033	90821989	1708	79526											
XKR4	114786	broad.mit.edu	37	chr8	56015332	56015332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggggcgggctcggctgCgctgtgcctgcgcctgggca	1	6	20	14	6	0	0	0	0	0	0	1	0	0	0	2	6	3	4	2	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56015332C>T	ENST00000327381.5	+	1	384	c.284C>T	c.(283-285)gCg>gTg	p.A95V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	95						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			gGCTCGGCTGCGCTGTGCCTG	0.781													14	23					0	0	0	0	T	56015332	C	T	56015332	3	4	408	1	0	0	0	0	1	0	0	0	17529	768	27	1	286	1	XKR4	8	56015332	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	473299	56015332	90348690	1709	79527											
TGS1	96764	broad.mit.edu	37	chr8	56698986	56698986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttcaaagcaaaaaagatActgagacagaaaatcctcca	21	6	5	9	0	1	3	1	1	0	3	3	4	3	3	2	0	3	1	2	0	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56698986A>G	ENST00000260129.5	+	4	1006	c.529A>G	c.(529-531)Act>Gct	p.T177A		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	177					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CAAAAAAGATACTGAGACAGA	0.343													21	88					0	0	0	0	G	56698986	A	G	56698986	3	3	408	1	0	0	0	0	1	0	0	0	15931	391	14	5	543	5	TGS1	8	56698986	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	683654	56698986	89665036	1710	79528											
TGS1	96764	broad.mit.edu	37	chr8	56711540	56711540	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaggaatcatcttctcAtgacaatgtgcacgacgctt	12	11	7	11	2	4	1	3	1	2	0	5	3	4	2	0	1	1	2	0	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56711540A>G	ENST00000260129.5	+	8	2087	c.1610A>G	c.(1609-1611)cAt>cGt	p.H537R		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	537					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TCATCTTCTCATGACAATGTG	0.383													25	72					0	0	0	0	G	56711540	A	G	56711540	3	3	408	1	0	0	0	0	1	0	0	0	15931	217	8	5	1640	5	TGS1	8	56711540	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	12554	56711540	89652482	1711	79529											
TGS1	96764	broad.mit.edu	37	chr8	56711599	56711599	+	Frame_Shift_Del	DEL	A	A	-																															aggaacaagacatgtctgttAaaaaaggtgatgacctactg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56711599delA	ENST00000260129.5	+	8	2146	c.1669delA	c.(1669-1671)aafs	p.K558fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	558					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CATGTCTGTTAAAAAAGGTGA	0.403													32	123	---	---	---	---					-	56711599	A	-	56711599	7	5	408	1	0	1	0	1	0	0	0	0	15931	363	13	0	1699	0	TGS1	8	56711599	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	59	56711599	89652423	1712	79530											
LYN	4067	broad.mit.edu	37	chr8	56863054	56863054	+	Frame_Shift_Del	DEL	A	A	-																															aaagcaaagtcccttttaacAaaaaaagaaggcttcatccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56863054delA	ENST00000520220.2	+	5	532	c.258delA	c.(256-258)acfs	p.T86fs	LYN_ENST00000519728.1_Frame_Shift_Del_p.T107fs	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	107	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CCCTTTTAACAAAAAAAGAAG	0.378													167	306	---	---	---	---					-	56863054	A	-	56863054	7	5	408	1	0	1	0	1	0	0	0	0	9172	117	5	0	335	0	LYN	8	56863054	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	151455	56863054	89500968	1713	79531											
PENK	5179	broad.mit.edu	37	chr8	57358360	57358360	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgcgcaacactcgccGcgcgcaacactcaccaggaa	12	3	10	16	5	1	0	1	0	0	0	2	1	1	1	2	2	3	2	2	2	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:57358360G>A	ENST00000518770.1	-	3	306	c.153C>T	c.(151-153)cgC>cgT	p.R51R	PENK_ENST00000451791.2_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_Intron			P01210	PENK_HUMAN	proenkephalin	47					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AACACTCGCCGCGCGCAACAC	0.677													84	123					0	0	0	0	A	57358360	G	A	57358360	2	1	408	1	0	0	0	0	0	0	0	1	11798	1102	38	1		1	PENK	8	57358360	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	495306	57358360	89005662	1714	79532											
CYP7A1	1581	broad.mit.edu	37	chr8	59409581	59409581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttctgtcacccaggcagCggtctttgagttagaggaga	8	10	12	11	1	3	3	1	1	2	2	3	4	3	3	2	3	1	2	2	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:59409581C>T	ENST00000301645.3	-	3	627	c.490G>A	c.(490-492)Gct>Act	p.A164T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	164					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACCCAGGCAGCGGTCTTTGAG	0.488									Neonatal Giant Cell Hepatitis				18	263					0	0	0	0	T	59409581	C	T	59409581	3	4	408	1	0	0	0	0	1	0	0	0	4228	768	27	1	1040	1	CYP7A1	8	59409581	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2051221	59409581	86954441	1715	79533											
CYP7A1	1581	broad.mit.edu	37	chr8	59410844	59410844	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatattttccgtggcacaAcaccttatggtatgacaagg	14	11	8	8	1	0	1	0	1	0	0	1	1	1	1	2	3	1	2	2	3	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:59410844A>G	ENST00000301645.3	-	2	402	c.265T>C	c.(265-267)Ttg>Ctg	p.L89L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	89					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCGTGGCACAACACCTTATGG	0.358									Neonatal Giant Cell Hepatitis				15	190					0	0	0	0	G	59410844	A	G	59410844	2	3	408	1	0	0	0	0	0	0	0	1	4228	40	2	5		5	CYP7A1	8	59410844	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1263	59410844	86953178	1716	79534											
TOX	9760	broad.mit.edu	37	chr8	59851885	59851885	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggaattagaaagcagTgttccatcctggcccagcat	13	9	10	9	0	0	1	0	0	0	1	2	3	2	2	3	2	2	3	3	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:59851885T>G	ENST00000361421.1	-	3	607	c.387A>C	c.(385-387)acA>acC	p.T129T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	129						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TAGAAAGCAGTGTTCCATCCT	0.488													15	136					0	0	0	0	G	59851885	T	G	59851885	2	3	408	1	0	0	0	0	0	0	0	1	16472	1683	59	5		5	TOX	8	59851885	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	441041	59851885	86512137	1717	79535											
TOX	9760	broad.mit.edu	37	chr8	59851965	59851965	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaatggtagcaggccatTatggttcatggggtgacaca	12	10	13	6	0	1	2	1	2	0	0	1	2	1	2	1	5	1	3	1	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:59851965T>C	ENST00000361421.1	-	3	527	c.307A>G	c.(307-309)Aat>Gat	p.N103D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	103						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGCAGGCCATTATGGTTCATG	0.483													24	120					0	0	0	0	C	59851965	T	C	59851965	3	2	408	1	0	0	0	0	1	0	0	0	16472	1754	61	5	1301	5	TOX	8	59851965	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	80	59851965	86512057	1718	79536											
CHD7	55636	broad.mit.edu	37	chr8	61777674	61777674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcccaaaagtgagatcGccagagcagccgcggccgcc	11	2	14	14	4	0	2	0	1	0	2	1	4	0	2	5	2	2	1	5	2	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:61777674G>A	ENST00000423902.2	+	38	8655	c.8176G>A	c.(8176-8178)Gcc>Acc	p.A2726T	CHD7_ENST00000524602.1_Missense_Mutation_p.A677T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2726	Poly-Ala.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGTGAGATCGCCAGAGCAGC	0.597													5	25					0	0	0	0	A	61777674	G	A	61777674	3	1	408	1	0	0	0	0	1	0	0	0	3359	1087	38	1	8322	1	CHD7	8	61777674	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1925709	61777674	84586348	1719	79537											
CHD7	55636	broad.mit.edu	37	chr8	61778301	61778301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatgccgtgggctccagcGaagaaaaggctgctgacaag	13	5	14	9	2	0	3	0	1	0	2	1	4	1	3	2	2	3	3	2	2	5	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:61778301G>A	ENST00000423902.2	+	38	9282	c.8803G>A	c.(8803-8805)Gaa>Aaa	p.E2935K	CHD7_ENST00000524602.1_Missense_Mutation_p.E886K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2935					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGCTCCAGCGAAGAAAAGGC	0.567													27	86					0	0	0	0	A	61778301	G	A	61778301	3	1	408	1	0	0	0	0	1	0	0	0	3359	1059	37	1	8949	1	CHD7	8	61778301	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	627	61778301	84585721	1720	79538											
ASPH	444	broad.mit.edu	37	chr8	62546280	62546280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttccacaggaaaaatgCttacttctaaaataaataat	17	13	4	7	0	2	0	0	0	2	0	3	1	3	1	1	1	2	2	1	1	8	7	rs111708484		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:62546280C>T	ENST00000541428.1	-	13	969	c.809G>A	c.(808-810)aGc>aAc	p.S270N	ASPH_ENST00000379454.4_Missense_Mutation_p.S299N|ASPH_ENST00000522835.1_Missense_Mutation_p.S242N|ASPH_ENST00000356457.5_Missense_Mutation_p.S299N|ASPH_ENST00000522919.1_Missense_Mutation_p.S112N|ASPH_ENST00000517903.1_Missense_Mutation_p.S284N|ASPH_ENST00000445642.3_Missense_Mutation_p.S285N|ASPH_ENST00000518068.1_Missense_Mutation_p.S256N|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000517847.2_Missense_Mutation_p.S285N	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	299	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGGAAAAATGCTTACTTCTAA	0.289													5	43					0	0	0	0	T	62546280	C	T	62546280	3	4	408	1	0	0	0	0	1	0	0	0	1057	797	28	4	1444	4	ASPH	8	62546280	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	767979	62546280	83817742	1721	79539											
NKAIN3	286183	broad.mit.edu	37	chr8	63659497	63659497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctacccacctaggacaccGatctaatgacattcaatatc	13	10	4	14	1	2	1	1	1	1	0	4	3	3	2	4	1	1	0	4	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:63659497G>A	ENST00000523211.1	+	4	412	c.280G>A	c.(280-282)Gat>Aat	p.D94N	NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	94						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTAGGACACCGATCTAATGAC	0.448													17	44					0	0	0	0	A	63659497	G	A	63659497	3	1	408	1	0	0	0	0	1	0	0	0	10507	1058	37	1	294	1	NKAIN3	8	63659497	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1113217	63659497	82704525	1722	79540											
BHLHE22	27319	broad.mit.edu	37	chr8	65493811	65493811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacgacgacagcgacggtcGctgcgagctcgtgctgcggg	6	5	17	13	9	0	0	0	0	0	0	2	5	0	0	0	2	5	3	0	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:65493811G>A	ENST00000321870.1	+	1	998	c.464G>A	c.(463-465)cGc>cAc	p.R155H	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	155	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						AGCGACGGTCGCTGCGAGCTC	0.751													8	10					0	0	0	0	A	65493811	G	A	65493811	3	1	408	1	0	0	0	0	1	0	0	0	1426	1087	38	1	466	1	BHLHE22	8	65493811	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1834314	65493811	80870211	1723	79541											
DNAJC5B	85479	broad.mit.edu	37	chr8	66988980	66988980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaatcaacaacgcccacGcaatacttaccgacatttca	17	7	4	13	3	2	1	2	0	0	1	2	2	2	1	2	0	4	1	2	0	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:66988980G>A	ENST00000276570.5	+	4	492	c.205G>A	c.(205-207)Gca>Aca	p.A69T	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	69	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CAACGCCCACGCAATACTTAC	0.428													5	340					0	0	0	0	A	66988980	G	A	66988980	3	1	408	1	0	0	0	0	1	0	0	0	4687	1087	38	1	211	1	DNAJC5B	8	66988980	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1495169	66988980	79375042	1724	79542											
VCPIP1	80124	broad.mit.edu	37	chr8	67546882	67546882	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgctacacagccatcagTtgtttctgtattcaaatttt	10	17	5	9	0	4	0	2	0	2	0	4	0	4	0	1	0	3	4	1	0	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:67546882T>C	ENST00000310421.4	-	3	3781	c.3523A>G	c.(3523-3525)Act>Gct	p.T1175A		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1175					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAGCCATCAGTTGTTTCTGTA	0.448													39	156					0	0	0	0	C	67546882	T	C	67546882	3	2	408	1	0	0	0	0	1	0	0	0	17237	1725	60	5	149	5	VCPIP1	8	67546882	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	557902	67546882	78817140	1725	79543											
VCPIP1	80124	broad.mit.edu	37	chr8	67578197	67578197	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgaccatctttcccagTgcacttctctgcagggatga	10	11	8	12	0	2	2	0	2	2	0	4	3	3	3	2	1	2	2	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:67578197T>C	ENST00000310421.4	-	1	1255	c.997A>G	c.(997-999)Act>Gct	p.T333A		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	333	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCTTTCCCAGTGCACTTCTCT	0.463													34	144					0	0	0	0	C	67578197	T	C	67578197	3	2	408	1	0	0	0	0	1	0	0	0	17237	1696	59	5	2683	5	VCPIP1	8	67578197	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	31315	67578197	78785825	1726	79544											
SGK3	23678	broad.mit.edu	37	chr8	67752238	67752239	+	Splice_Site	INS	-	-	T																															cccacaaccaatttgacagcINStttttttccacttacaaaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:67752238_67752239insT	ENST00000396596.1	+	11	956_957	c.741_splice	c.e11-1	p.F248_splice	SGK3_ENST00000521435.1_3'UTR|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.F248_splice|SGK3_ENST00000345714.4_Splice_Site_p.F248_splice|SGK3_ENST00000522398.1_Splice_Site_p.F248_splice|SGK3_ENST00000521198.2_Splice_Site_p.F248_splice|SGK3_ENST00000520976.1_Splice_Site_p.F248_splice	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	248	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATTTGACAGCTTTTTTTCCAC	0.401													18	111	---	---	---	---					T	67752239	-	T	67752238	8	5	408	1	0	1	1	0	0	0	1	0	14299	811	28	0	780	0	SGK3	8	67752238	Splice_Site	INS	-	TCGA-F7-A624-01A-22D-A30E-08	174041	67752238	78611784	1727	79545											
CSPP1	79848	broad.mit.edu	37	chr8	68089926	68089926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactacagttgacttagatGccatcccaagtgctaaagta	13	11	8	9	0	0	3	0	2	0	1	1	3	1	3	2	0	3	3	2	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:68089926G>A	ENST00000262210.5	+	25	3137	c.3106G>A	c.(3106-3108)Gcc>Acc	p.A1036T	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.A691T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1071						centrosome|microtubule|spindle				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)			TGACTTAGATGCCATCCCAAG	0.313													24	112					0	0	0	0	A	68089926	G	A	68089926	3	1	408	1	0	0	0	0	1	0	0	0	3994	1319	46	4	3317	4	CSPP1	8	68089926	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	337688	68089926	78274096	1728	79546											
ARFGEF1	10565	broad.mit.edu	37	chr8	68113816	68113816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctcctgcttcagaaggTtgggcttggatttgcctttg	4	16	13	8	0	2	1	1	0	1	1	3	2	2	2	2	4	2	3	2	4	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:68113816T>C	ENST00000262215.3	-	37	5542	c.5153A>G	c.(5152-5154)aAc>aGc	p.N1718S	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N1172S|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N556S	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1718					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTTCAGAAGGTTGGGCTTGGA	0.532													31	137					0	0	0	0	C	68113816	T	C	68113816	3	2	408	1	0	0	0	0	1	0	0	0	854	1725	60	5	408	5	ARFGEF1	8	68113816	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	23890	68113816	78250206	1729	79547											
ARFGEF1	10565	broad.mit.edu	37	chr8	68179674	68179674	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagaaaatttctttaaagaAcacctgtgattaggagaaaa	19	11	7	4	0	1	4	0	1	1	3	1	5	1	4	1	1	1	0	1	1	9	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:68179674A>G	ENST00000262215.3	-	11	1965	c.1576T>C	c.(1576-1578)Ttc>Ctc	p.F526L	ARFGEF1_ENST00000520381.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	526					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTTTAAAGAACACCTGTGAT	0.333													24	60					0	0	0	0	G	68179674	A	G	68179674	3	3	408	1	0	0	0	0	1	0	0	0	854	43	2	5	4089	5	ARFGEF1	8	68179674	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	65858	68179674	78184348	1730	79548											
CPA6	57094	broad.mit.edu	37	chr8	68419112	68419112	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcttttgagtcgtgaTcgtctgcccagctgaaaaca	10	11	9	11	2	2	3	0	3	2	0	4	3	2	3	1	0	4	2	1	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:68419112T>C	ENST00000297770.4	-	6	761	c.546A>G	c.(544-546)cgA>cgG	p.R182R	CPA6_ENST00000518549.1_Silent_p.R182R|CPA6_ENST00000297769.4_Silent_p.R34R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	182					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGAGTCGTGATCGTCTGCCCA	0.393													4	63					0	0	0	0	C	68419112	T	C	68419112	2	2	408	1	0	0	0	0	0	0	0	1	3824	1422	50	5		5	CPA6	8	68419112	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	239438	68419112	77944910	1731	79549											
SLCO5A1	81796	broad.mit.edu	37	chr8	70594434	70594434	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccccagtgctaagattAccactattaacacagccagc	13	8	5	15	0	1	1	1	0	0	1	1	1	1	1	4	0	5	1	4	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:70594434A>G	ENST00000260126.3	-	7	2473	c.1767T>C	c.(1765-1767)ggT>ggC	p.G589G	SLCO5A1_ENST00000524945.1_Silent_p.G589G|SLCO5A1_ENST00000530307.1_Silent_p.G534G	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	589	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCTAAGATTACCACTATTAA	0.408													57	117					0	0	0	0	G	70594434	A	G	70594434	2	3	408	1	0	0	0	0	0	0	0	1	14819	378	14	5		5	SLCO5A1	8	70594434	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2175322	70594434	75769588	1732	79550											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744246	70744246	+	Frame_Shift_Del	DEL	G	G	-																															ttcaactcttggatctggtaGgggggcgagatgaagtgagg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:70744246delG	ENST00000260126.3	-	2	1369	c.663delC	c.(661-663)ccfs	p.P221fs	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.P221fs	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	221						integral to membrane|plasma membrane	transporter activity	p.Y222fs*6(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGATCTGGTAGGGGGGCGAGA	0.677													18	46	---	---	---	---					-	70744246	G	-	70744246	7	5	408	1	0	1	0	1	0	0	0	0	14819	987	35	0	1919	0	SLCO5A1	8	70744246	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	149812	70744246	75619776	1733	79551											
PRDM14	63978	broad.mit.edu	37	chr8	70981504	70981504	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcaggtcctcctccgTgaactggaaccgagcagggg	9	6	15	11	2	0	1	0	1	0	0	3	4	3	2	4	4	4	2	4	4	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:70981504T>A	ENST00000276594.2	-	2	793	c.592A>T	c.(592-594)Acg>Tcg	p.T198S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCTCCTCCGTGAACTGGAAC	0.602													4	118					0	0	0	0	A	70981504	T	A	70981504	3	1	408	1	0	0	0	0	1	0	0	0	12535	1696	59	5	1151	5	PRDM14	8	70981504	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	237258	70981504	75382518	1734	79552											
NCOA2	10499	broad.mit.edu	37	chr8	71053559	71053559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtagcagcacaggtgActctcacagccgaactctgc	9	8	12	12	1	2	1	1	1	2	0	3	2	2	1	1	3	5	3	1	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:71053559A>G	ENST00000452400.2	-	14	3069	c.2888T>C	c.(2887-2889)gTc>gCc	p.V963A	NCOA2_ENST00000267974.4_Missense_Mutation_p.V51A	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	963					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGCACAGGTGACTCTCACAGC	0.562			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								13	54					0	0	0	0	G	71053559	A	G	71053559	3	3	408	1	0	0	0	0	1	0	0	0	10299	275	10	5	1546	5	NCOA2	8	71053559	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	72055	71053559	75310463	1735	79553											
NCOA2	10499	broad.mit.edu	37	chr8	71060681	71060681	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgactattctgcaaatcaTccaaaatctcctccaagttg	13	13	4	11	0	3	1	1	1	2	0	6	1	5	1	3	0	1	2	3	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:71060681T>A	ENST00000452400.2	-	12	2613	c.2432A>T	c.(2431-2433)gAt>gTt	p.D811V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	811					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.D811V(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGCAAATCATCCAAAATCTC	0.478			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	88					0	0	0	0	A	71060681	T	A	71060681	3	1	408	1	0	0	0	0	1	0	0	0	10299	1435	50	5	2010	5	NCOA2	8	71060681	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7122	71060681	75303341	1736	79554											
NCOA2	10499	broad.mit.edu	37	chr8	71069425	71069425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taattggattcagtggcttcCccatcgtttgtccagtcaga	8	14	9	10	1	2	1	2	0	0	1	5	2	4	2	3	2	0	2	3	2	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:71069425C>T	ENST00000452400.2	-	11	1356	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	392					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGTGGCTTCCCCATCGTTTG	0.433			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								12	48					0	0	0	0	T	71069425	C	T	71069425	3	4	408	1	0	0	0	0	1	0	0	0	10299	623	22	4	3271	4	NCOA2	8	71069425	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	8744	71069425	75294597	1737	79555											
EYA1	2138	broad.mit.edu	37	chr8	72211461	72211461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaaactgggataagacGgatagtcctaccaaatcaaa	17	6	9	9	1	1	1	1	0	0	1	2	3	2	3	3	3	2	0	3	3	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:72211461G>A	ENST00000340726.3	-	9	1286	c.647C>T	c.(646-648)cCg>cTg	p.P216L	EYA1_ENST00000388742.4_Missense_Mutation_p.P216L|EYA1_ENST00000388741.2_Missense_Mutation_p.P182L|EYA1_ENST00000303824.7_Missense_Mutation_p.P210L|EYA1_ENST00000388740.3_Missense_Mutation_p.P183L|EYA1_ENST00000419131.1_Missense_Mutation_p.P211L|EYA1_ENST00000388743.2_Missense_Mutation_p.P215L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	216					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGGATAAGACGGATAGTCCTA	0.423													17	104					0	0	0	0	A	72211461	G	A	72211461	3	1	408	1	0	0	0	0	1	0	0	0	5366	1116	39	1	1171	1	EYA1	8	72211461	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1142036	72211461	74152561	1738	79556											
TRPA1	8989	broad.mit.edu	37	chr8	72977772	72977772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttccaaattaacatcaaTagttctatgctcaagcaaga	15	12	4	10	0	3	1	2	0	1	1	5	1	5	1	2	0	3	3	2	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:72977772T>C	ENST00000262209.4	-	4	673	c.466A>G	c.(466-468)Att>Gtt	p.I156V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	156						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTAACATCAATAGTTCTATGC	0.348													14	48					0	0	0	0	C	72977772	T	C	72977772	3	2	408	1	0	0	0	0	1	0	0	0	16672	1406	49	5	2989	5	TRPA1	8	72977772	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	766311	72977772	73386250	1739	79557											
TERF1	7013	broad.mit.edu	37	chr8	73937154	73937154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatgatggagaaaattaAgagttatgtgaattatgtgc	15	12	10	4	0	0	4	0	2	0	2	0	5	0	4	1	1	1	1	1	1	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:73937154A>G	ENST00000276602.6	+	5	745	c.722A>G	c.(721-723)aAg>aGg	p.K241R	TERF1_ENST00000276603.5_Missense_Mutation_p.K241R	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	241	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGAAAATTAAGAGTTATGTG	0.303													4	40					0	0	0	0	G	73937154	A	G	73937154	3	3	408	1	0	0	0	0	1	0	0	0	15855	72	3	5	740	5	TERF1	8	73937154	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	959382	73937154	72426868	1740	79558											
TCEB1	6921	broad.mit.edu	37	chr8	74868286	74868286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccataggttttctcctctCcatctaaagtaaagtaagta	13	13	5	10	0	3	0	0	0	3	0	5	0	3	0	3	1	0	4	3	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:74868286C>T	ENST00000602840.1	-	3	202	c.8G>A	c.(7-9)gGa>gAa	p.G3E	TCEB1_ENST00000518127.1_Missense_Mutation_p.G3E|TCEB1_ENST00000522337.1_Missense_Mutation_p.G3E|TCEB1_ENST00000284811.8_Missense_Mutation_p.G3E|TCEB1_ENST00000520210.1_5'UTR|TCEB1_ENST00000520242.1_Missense_Mutation_p.G3E|TCEB1_ENST00000523815.1_Missense_Mutation_p.G3E|TCEB1_ENST00000519487.1_Missense_Mutation_p.G3E			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	3					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TTTCTCCTCTCCATCTAAAGT	0.408													15	99					0	0	0	0	T	74868286	C	T	74868286	3	4	408	1	0	0	0	0	1	0	0	0	15773	855	30	2	338	2	TCEB1	8	74868286	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	931132	74868286	71495736	1741	79559											
JPH1	56704	broad.mit.edu	37	chr8	75227813	75227813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacgctctggcgcacgccgTagccatgccgcatgcctccg	5	6	12	18	6	1	0	0	0	1	0	2	0	2	0	5	1	3	5	5	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:75227813T>C	ENST00000342232.4	-	2	462	c.422A>G	c.(421-423)tAc>tGc	p.Y141C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	141	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGCACGCCGTAGCCATGCCG	0.682													12	52					0	0	0	0	C	75227813	T	C	75227813	3	2	408	1	0	0	0	0	1	0	0	0	8013	1638	57	5	1579	5	JPH1	8	75227813	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	359527	75227813	71136209	1742	79560											
PI15	51050	broad.mit.edu	37	chr8	75761352	75761352	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttttgttttcccttctaGgggcaattggattggagaag	7	17	11	6	0	1	1	0	0	1	1	2	3	2	2	1	4	0	2	1	4	3	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:75761352G>T	ENST00000260113.2	+	6	820		c.e6-1		RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Splice_Site|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15							extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTCCCTTCTAGGGGCAATTGG	0.393													37	142					3.61848e-18	3.80755e-18	1	0	T	75761352	G	T	75761352	5	4	408	1	0	0	0	0	0	0	1	0	11940	1014	35	4	659	4	PI15	8	75761352	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	533539	75761352	70602670	1743	79561											
HNF4G	3174	broad.mit.edu	37	chr8	76452267	76452267	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaagttttggacccaactTacacaactttggagtttgaa	12	13	9	7	0	0	2	0	2	0	0	0	4	0	4	1	2	3	2	1	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:76452267T>G	ENST00000396423.2	+	1	164	c.40T>G	c.(40-42)Tac>Gac	p.Y14D	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GGACCCAACTTACACAACTTT	0.348													46	146					0	0	0	0	G	76452267	T	G	76452267	3	3	408	1	0	0	0	0	1	0	0	0	7304	1754	61	5	42	5	HNF4G	8	76452267	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	690915	76452267	69911755	1744	79562											
ZFHX4	79776	broad.mit.edu	37	chr8	77618583	77618583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccagcctcagtggctgcGgaacaccctctccgtccaaa	10	6	8	17	2	2	0	1	0	1	0	4	1	3	1	5	2	3	1	5	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:77618583G>A	ENST00000521891.2	+	2	2708	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G754R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G754R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G754R|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	754						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGGCTGCGGAACACCCTC	0.527										HNSCC(33;0.089)			20	36					0	0	0	0	A	77618583	G	A	77618583	3	1	408	1	0	0	0	0	1	0	0	0	17730	1117	39	1	2262	1	ZFHX4	8	77618583	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1166316	77618583	68745439	1745	79563											
ZFHX4	79776	broad.mit.edu	37	chr8	77767872	77767872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgaaacgtccagcatagcGgacccgagctccccaaatcc	12	4	9	16	4	0	0	0	0	0	0	3	3	3	1	5	1	5	2	5	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:77767872G>A	ENST00000521891.2	+	10	9163	c.8715G>A	c.(8713-8715)gcG>gcA	p.A2905A	ZFHX4_ENST00000050961.6_Silent_p.A2860A|ZFHX4_ENST00000455469.2_Silent_p.A2860A|ZFHX4_ENST00000518282.1_Silent_p.A2879A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2860						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGCATAGCGGACCCGAGCT	0.507										HNSCC(33;0.089)			36	66					0	0	0	0	A	77767872	G	A	77767872	2	1	408	1	0	0	0	0	0	0	0	1	17730	1103	39	1		1	ZFHX4	8	77767872	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	149289	77767872	68596150	1746	79564											
IL7	3574	broad.mit.edu	37	chr8	79646036	79646036	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaacacaagtcattcagtTttttctgttcctttaaagat	12	16	6	7	0	3	1	2	0	1	1	4	2	4	2	1	1	1	2	1	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:79646036T>G	ENST00000263851.4	-	6	1046	c.446A>C	c.(445-447)aAa>aCa	p.K149T	IL7_ENST00000520269.1_Missense_Mutation_p.K105T|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.K36T	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	149					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						GTCATTCAGTTTTTTCTGTTC	0.244													10	76					0	0	0	0	G	79646036	T	G	79646036	3	3	408	1	0	0	0	0	1	0	0	0	7757	1841	64	5	91	5	IL7	8	79646036	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1878164	79646036	66717986	1747	79565											
ZBTB10	65986	broad.mit.edu	37	chr8	81431473	81431473	+	Frame_Shift_Del	DEL	A	A	-																															attaggtgcataaaaaggatAaaaaatacaaatgtatggtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:81431473delA	ENST00000430430.1	+	7	3105	c.2326delA	c.(2326-2328)aafs	p.K777fs	ZBTB10_ENST00000426744.2_Frame_Shift_Del_p.K753fs|ZBTB10_ENST00000455036.3_Frame_Shift_Del_p.K777fs|ZBTB10_ENST00000379091.4_Frame_Shift_Del_p.K485fs	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	777					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TAAAAAGGATAAAAAATACAA	0.338													17	62	---	---	---	---					-	81431473	A	-	81431473	7	5	408	1	0	1	0	1	0	0	0	0	17618	363	13	0	2348	0	ZBTB10	8	81431473	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	1785437	81431473	64932549	1748	79566											
SLC10A5	347051	broad.mit.edu	37	chr8	82606590	82606590	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtcattacaactccaaaAgcttgcgcctcaggcaatgc	12	8	8	13	1	2	0	2	0	0	0	3	0	3	0	2	2	5	2	2	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:82606590A>G	ENST00000518568.1	-	1	1819	c.618T>C	c.(616-618)gcT>gcC	p.A206A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	206						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAACTCCAAAAGCTTGCGCCT	0.478													59	220					0	0	0	0	G	82606590	A	G	82606590	2	3	408	1	0	0	0	0	0	0	0	1	14465	59	3	5		5	SLC10A5	8	82606590	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1175117	82606590	63757432	1749	79567											
PSKH2	85481	broad.mit.edu	37	chr8	87076207	87076207	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttacctctcctgtataaTtatatttgcctttcagaatc	9	18	3	11	0	3	1	1	0	2	1	5	1	3	1	3	0	2	1	3	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:87076207T>A	ENST00000276616.2	-	2	913	c.839A>T	c.(838-840)aAt>aTt	p.N280I		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	280	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCCTGTATAATTATATTTGCC	0.388													9	51					0	0	0	0	A	87076207	T	A	87076207	3	1	408	1	0	0	0	0	1	0	0	0	12744	1493	52	5	324	5	PSKH2	8	87076207	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4469617	87076207	59287815	1750	79568											
SLC7A13	157724	broad.mit.edu	37	chr8	87229783	87229784	+	Frame_Shift_Ins	INS	-	-	A																															tagaccataatgaacccgtgINSaaaaaaatatagtttatcaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:87229783_87229784insA	ENST00000297524.3	-	3	1197_1198	c.1094_1095insT	c.(1093-1095)tacfs	p.Y365fs	SLC7A13_ENST00000419776.2_Frame_Shift_Ins_p.Y356fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	365						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATGAACCCGTGAAAAAAATATA	0.337													31	68	---	---	---	---					A	87229784	-	A	87229783	7	5	408	1	0	1	1	0	0	0	0	0	14783	1281	45	0	325	0	SLC7A13	8	87229783	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	153576	87229783	59134239	1751	79569											
WWP1	11059	broad.mit.edu	37	chr8	87474017	87474017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaggaagtaatgggcctCaaaagttttgcattgaaaaa	15	11	11	4	0	1	1	1	1	0	0	1	2	1	2	1	2	1	4	1	2	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:87474017C>A	ENST00000517970.1	+	24	2918	c.2611C>A	c.(2611-2613)Caa>Aaa	p.Q871K	WWP1_ENST00000341922.2_Missense_Mutation_p.Q741K|WWP1_ENST00000265428.4_Missense_Mutation_p.Q871K|WWP1_ENST00000349423.2_Missense_Mutation_p.Q653K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	871	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TAATGGGCCTCAAAAGTTTTG	0.363													48	101					2.43468e-25	2.57753e-25	1	0	A	87474017	C	A	87474017	3	1	408	1	0	0	0	0	1	0	0	0	17511	827	29	2	2697	2	WWP1	8	87474017	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	244234	87474017	58890005	1752	79570											
MMP16	4325	broad.mit.edu	37	chr8	89053770	89053770	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaactggaacacagtgtaAaccaatacaaggaggcataa	18	7	9	7	0	0	1	0	1	0	0	0	3	0	3	1	3	4	2	1	3	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:89053770A>G	ENST00000286614.6	-	10	2024	c.1743T>C	c.(1741-1743)gtT>gtC	p.V581V		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	581					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACACAGTGTAAACCAATACAA	0.448													35	131					0	0	0	0	G	89053770	A	G	89053770	2	3	408	1	0	0	0	0	0	0	0	1	9724	1	1	5		5	MMP16	8	89053770	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1579753	89053770	57310252	1753	79571											
RIPK2	8767	broad.mit.edu	37	chr8	90802310	90802310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgttctttttcagaacGtctgcagcctggtatagccc	6	15	8	12	1	3	1	1	0	2	1	4	1	4	1	3	1	4	3	3	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:90802310G>A	ENST00000220751.4	+	11	1603	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H	RIPK2_ENST00000540020.1_Missense_Mutation_p.R293H	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	430					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|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	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TTTTCAGAACGTCTGCAGCCT	0.383													30	50					0	0	0	0	A	90802310	G	A	90802310	3	1	408	1	0	0	0	0	1	0	0	0	13466	1145	40	1	1331	1	RIPK2	8	90802310	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1748540	90802310	55561712	1754	79572											
NECAB1	64168	broad.mit.edu	37	chr8	91929728	91929728	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcacccttaggactaccaAgaagcctccaatttggaaca	13	9	7	12	0	1	1	1	0	0	1	2	3	2	3	4	2	3	0	4	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:91929728A>G	ENST00000417640.2	+	6	703	c.366A>G	c.(364-366)caA>caG	p.Q122Q		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	122					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AGGACTACCAAGAAGCCTCCA	0.378													4	72					0	0	0	0	G	91929728	A	G	91929728	2	3	408	1	0	0	0	0	0	0	0	1	10374	69	3	5		5	NECAB1	8	91929728	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1127418	91929728	54434294	1755	79573											
RBM12B	389677	broad.mit.edu	37	chr8	94745947	94745947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccatattatgctttccaaAatcaaacttgccaccttctg	11	14	3	13	0	2	0	1	0	1	0	4	0	4	0	4	0	3	1	4	0	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:94745947A>G	ENST00000399300.2	-	3	2905	c.2692T>C	c.(2692-2694)Ttt>Ctt	p.F898L	RBM12B_ENST00000517700.1_Missense_Mutation_p.F778L|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	898							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGCTTTCCAAAATCAAACTTG	0.408													79	375					0	0	0	0	G	94745947	A	G	94745947	3	3	408	1	0	0	0	0	1	0	0	0	13196	14	1	5	317	5	RBM12B	8	94745947	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2816219	94745947	51618075	1756	79574											
RBM12B	389677	broad.mit.edu	37	chr8	94746046	94746046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctcaccaggaggtctaaAattgtcaggaagtctagggt	12	10	11	8	0	4	0	2	0	2	0	5	2	5	2	2	4	0	0	2	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:94746046A>G	ENST00000399300.2	-	3	2806	c.2593T>C	c.(2593-2595)Ttt>Ctt	p.F865L	RBM12B_ENST00000517700.1_Missense_Mutation_p.F745L|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	865							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAGGTCTAAAATTGTCAGGA	0.498													17	267					0	0	0	0	G	94746046	A	G	94746046	3	3	408	1	0	0	0	0	1	0	0	0	13196	14	1	5	416	5	RBM12B	8	94746046	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	99	94746046	51617976	1757	79575											
TMEM67	91147	broad.mit.edu	37	chr8	94797542	94797542	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgatgaaaatcaacatcaAtatattttggctgtgcctgt	13	14	7	7	0	2	2	2	2	0	0	2	2	2	2	1	1	2	1	1	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:94797542A>G	ENST00000453321.3	+	12	1282	c.1224A>G	c.(1222-1224)caA>caG	p.Q408Q	TMEM67_ENST00000409623.3_Silent_p.Q327Q	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	408					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATCAACATCAATATATTTTGG	0.338													5	239					0	0	0	0	G	94797542	A	G	94797542	2	3	408	1	0	0	0	0	0	0	0	1	16290	98	4	5		5	TMEM67	8	94797542	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	51496	94797542	51566480	1758	79576											
RAD54B	25788	broad.mit.edu	37	chr8	95470494	95470494	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaataaaaagcagtcttAcctgtatgaggtggatctaa	15	12	8	6	0	3	1	1	1	2	0	3	2	3	2	1	2	2	2	1	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95470494A>G	ENST00000336148.5	-	3	429		c.e3+1		RAD54B_ENST00000297592.5_Splice_Site	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)						double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAGCAGTCTTACCTGTATGAG	0.299								Direct reversal of damage;Homologous recombination					25	129					0	0	0	0	G	95470494	A	G	95470494	5	3	408	1	0	0	0	0	0	0	1	0	13074	405	14	5	2478	5	RAD54B	8	95470494	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	672952	95470494	50893528	1759	79577											
KIAA1429	25962	broad.mit.edu	37	chr8	95500996	95500996	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccactaacaaactttcctcTtgagcctccactgccgctat	9	12	4	16	1	1	1	0	1	1	0	4	1	4	1	5	0	4	1	5	0	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95500996T>G	ENST00000297591.5	-	24	5452	c.5377A>C	c.(5377-5379)Aga>Cga	p.R1793R	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1793					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACTTTCCTCTTGAGCCTCCA	0.488													67	290					0	0	0	0	G	95500996	T	G	95500996	2	3	408	1	0	0	0	0	0	0	0	1	8282	1617	56	5		5	KIAA1429	8	95500996	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	30502	95500996	50863026	1760	79578											
KIAA1429	25962	broad.mit.edu	37	chr8	95507106	95507106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaatccagatctgtatcTatctcttcagcctgaaatgg	12	12	6	11	0	4	2	1	1	3	1	6	2	5	2	3	1	1	1	3	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95507106T>C	ENST00000297591.5	-	20	4698	c.4623A>G	c.(4621-4623)atA>atG	p.I1541M	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1541					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GATCTGTATCTATCTCTTCAG	0.323													61	305					0	0	0	0	C	95507106	T	C	95507106	3	2	408	1	0	0	0	0	1	0	0	0	8282	1512	53	5	835	5	KIAA1429	8	95507106	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	6110	95507106	50856916	1761	79579											
KIAA1429	25962	broad.mit.edu	37	chr8	95508100	95508100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaaagaatccagattgTcatcatcttttgaatgttcc	13	13	5	10	0	3	3	2	1	1	2	5	3	5	3	3	0	1	1	3	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95508100T>C	ENST00000297591.5	-	19	4478	c.4403A>G	c.(4402-4404)gAc>gGc	p.D1468G	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1468					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATCCAGATTGTCATCATCTTT	0.408													28	93					0	0	0	0	C	95508100	T	C	95508100	3	2	408	1	0	0	0	0	1	0	0	0	8282	1667	58	5	1059	5	KIAA1429	8	95508100	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	994	95508100	50855922	1762	79580											
CCNE2	9134	broad.mit.edu	37	chr8	95893861	95893861	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgcttagttatcttcttTagtgttttcctggtggtttt	3	24	9	5	0	2	0	0	0	2	0	3	0	3	0	1	2	1	5	1	2	3	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95893861T>C	ENST00000520509.1	-	12	1466	c.1214A>G	c.(1213-1215)tAa>tGa	p.*405*	CCNE2_ENST00000308108.4_Silent_p.*405*|INTS8_ENST00000523731.1_3'UTR|CCNE2_ENST00000396133.3_3'UTR			O96020	CCNE2_HUMAN	cyclin E2	0					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTATCTTCTTTAGTGTTTTCC	0.403													26	146					0	0	0	0	C	95893861	T	C	95893861	2	2	408	1	0	0	0	0	0	0	0	1	2950	1761	61	5		5	CCNE2	8	95893861	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	385761	95893861	50470161	1763	79581											
MATN2	4147	broad.mit.edu	37	chr8	98943520	98943520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccctgagggagaatgTgccacgggtcataatgatcg	9	7	14	11	3	1	3	1	2	0	1	2	4	1	3	4	3	1	0	4	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:98943520T>C	ENST00000254898.5	+	3	713	c.482T>C	c.(481-483)gTg>gCg	p.V161A	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.V161A|MATN2_ENST00000524308.1_Missense_Mutation_p.V161A|MATN2_ENST00000521689.1_Missense_Mutation_p.V161A	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	161	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGGGAGAATGTGCCACGGGTC	0.602													4	64					0	0	0	0	C	98943520	T	C	98943520	3	2	408	1	0	0	0	0	1	0	0	0	9403	1696	59	5	488	5	MATN2	8	98943520	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3049659	98943520	47420502	1764	79582											
POP1	10940	broad.mit.edu	37	chr8	99146774	99146774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctttatcgggtgaataaaTatcccagagaaatgcttggg	12	12	11	6	1	0	2	0	1	0	1	2	3	1	2	1	2	2	2	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:99146774T>C	ENST00000401707.2	+	7	979	c.898T>C	c.(898-900)Tat>Cat	p.Y300H	POP1_ENST00000349693.3_Missense_Mutation_p.Y300H	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	300					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGTGAATAAATATCCCAGAGA	0.517													34	104					0	0	0	0	C	99146774	T	C	99146774	3	2	408	1	0	0	0	0	1	0	0	0	12323	1406	49	5	920	5	POP1	8	99146774	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	203254	99146774	47217248	1765	79583											
POP1	10940	broad.mit.edu	37	chr8	99158845	99158845	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggtgtgcctgtggaatgTacgcatagctttatctggaa	9	12	14	6	1	1	0	0	0	1	0	1	3	1	2	1	3	3	3	1	3	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:99158845T>C	ENST00000401707.2	+	12	1725	c.1644T>C	c.(1642-1644)tgT>tgC	p.C548C	POP1_ENST00000349693.3_Silent_p.C548C	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	548					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTGTGGAATGTACGCATAGCT	0.398													59	171					0	0	0	0	C	99158845	T	C	99158845	2	2	408	1	0	0	0	0	0	0	0	1	12323	1644	57	5		5	POP1	8	99158845	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	12071	99158845	47205177	1766	79584											
VPS13B	157680	broad.mit.edu	37	chr8	100514039	100514039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcagtgggtgcttcccaAaattactataaagctctttg	11	13	9	8	0	1	0	0	0	1	0	2	1	2	0	1	1	4	3	1	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:100514039A>G	ENST00000395996.1	+	26	4106	c.3995A>G	c.(3994-3996)aAa>aGa	p.K1332R	VPS13B_ENST00000358544.2_Missense_Mutation_p.K1332R|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1332R			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1332					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCTTCCCAAAATTACTATA	0.453													91	147					0	0	0	0	G	100514039	A	G	100514039	3	3	408	1	0	0	0	0	1	0	0	0	17286	14	1	5	4216	5	VPS13B	8	100514039	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1355194	100514039	45849983	1767	79585											
RGS22	26166	broad.mit.edu	37	chr8	101084391	101084391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtattcaaagtaacaaTcactttccagaaatgctgga	15	11	6	9	0	2	1	2	0	0	1	3	2	3	2	2	1	2	3	2	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:101084391T>A	ENST00000360863.6	-	5	601	c.407A>T	c.(406-408)gAt>gTt	p.D136V	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Missense_Mutation_p.D136V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	136					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAGTAACAATCACTTTCCAG	0.338													14	73					0	0	0	0	A	101084391	T	A	101084391	3	1	408	1	0	0	0	0	1	0	0	0	13388	1435	50	5	3479	5	RGS22	8	101084391	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	570352	101084391	45279631	1768	79586											
NCALD	83988	broad.mit.edu	37	chr8	102701613	102701613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttttggctcctcggatgAactcttccagggagagtttt	6	14	11	10	2	1	2	0	1	1	1	4	4	3	3	2	3	1	3	2	3	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:102701613A>G	ENST00000395923.1	-	6	965	c.506T>C	c.(505-507)tTc>tCc	p.F169S	NCALD_ENST00000519508.2_Missense_Mutation_p.F169S|NCALD_ENST00000220931.6_Missense_Mutation_p.F169S|NCALD_ENST00000311028.3_Missense_Mutation_p.F169S|NCALD_ENST00000521599.1_Missense_Mutation_p.F169S|NCALD_ENST00000522951.1_Intron	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	169	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TCCTCGGATGAACTCTTCCAG	0.602													6	24					0	0	0	0	G	102701613	A	G	102701613	3	3	408	1	0	0	0	0	1	0	0	0	10271	246	9	5	79	5	NCALD	8	102701613	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1617222	102701613	43662409	1769	79587											
UBR5	51366	broad.mit.edu	37	chr8	103293654	103293654	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaacatcagaatgctcAtcattatgagaccgcattag	15	9	9	8	1	3	3	3	1	0	3	3	5	3	4	1	1	2	2	1	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:103293654A>G	ENST00000520539.1	-	41	6396	c.5790T>C	c.(5788-5790)gaT>gaC	p.D1930D	UBR5_ENST00000220959.4_Silent_p.D1930D|UBR5_ENST00000521922.1_Silent_p.D1924D	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1930					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGAATGCTCATCATTATGAG	0.423													14	163					0	0	0	0	G	103293654	A	G	103293654	2	3	408	1	0	0	0	0	0	0	0	1	17001	214	8	5		5	UBR5	8	103293654	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	592041	103293654	43070368	1770	79588											
UBR5	51366	broad.mit.edu	37	chr8	103359222	103359222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcgatcccgtcctgtcCgaataactcgagtctgccgg	7	9	9	16	5	1	0	0	0	1	0	6	3	4	0	5	1	2	0	5	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:103359222C>T	ENST00000520539.1	-	6	1091	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	UBR5_ENST00000220959.4_Missense_Mutation_p.R162Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R162Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	162					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCGTCCTGTCCGAATAACTCG	0.567													67	208					0	0	0	0	T	103359222	C	T	103359222	3	4	408	1	0	0	0	0	1	0	0	0	17001	652	23	1	8130	1	UBR5	8	103359222	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	65568	103359222	43004800	1771	79589											
FZD6	8323	broad.mit.edu	37	chr8	104341955	104341955	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcacaattctaaagttaaAcacaaaaagaagcactataa	23	7	4	7	0	1	1	0	0	1	1	1	1	1	1	0	0	3	3	0	0	11	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:104341955A>G	ENST00000358755.4	+	6	1931	c.1614A>G	c.(1612-1614)aaA>aaG	p.K538K	FZD6_ENST00000540287.1_Silent_p.K233K|FZD6_ENST00000523739.1_Silent_p.K506K|FZD6_ENST00000522566.1_Silent_p.K538K	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	538					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CTAAAGTTAAACACAAAAAGA	0.378													13	66					0	0	0	0	G	104341955	A	G	104341955	2	3	408	1	0	0	0	0	0	0	0	1	6182	40	2	5		5	FZD6	8	104341955	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	982733	104341955	42022067	1772	79590											
SLC25A32	81034	broad.mit.edu	37	chr8	104419961	104419961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtttccaaatggtagtcAagcaatgtaaaattccatta	16	12	6	7	0	1	0	1	0	0	0	3	0	3	0	2	1	1	4	2	1	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:104419961A>G	ENST00000297578.4	-	2	372	c.206T>C	c.(205-207)tTg>tCg	p.L69S	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	69					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	AATGGTAGTCAAGCAATGTAA	0.413													34	169					0	0	0	0	G	104419961	A	G	104419961	3	3	408	1	0	0	0	0	1	0	0	0	14584	131	5	5	765	5	SLC25A32	8	104419961	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	78006	104419961	41944061	1773	79591											
RIMS2	9699	broad.mit.edu	37	chr8	104831813	104831813	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttttcatccccaccaaaTatcttacaaaatgagctttt	12	16	3	10	0	2	1	1	1	1	0	3	1	3	1	3	0	2	2	3	0	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:104831813T>A	ENST00000507740.1	+	1	314	c.78T>A	c.(76-78)aaT>aaA	p.N26K	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.N26K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1018	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCCACCAAATATCTTACAAA	0.323										HNSCC(12;0.0054)			8	70					0	0	0	0	A	104831813	T	A	104831813	3	1	408	1	0	0	0	0	1	0	0	0	13453	1403	49	5	790	5	RIMS2	8	104831813	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	411852	104831813	41532209	1774	79592											
OXR1	55074	broad.mit.edu	37	chr8	107719358	107719358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcataaaattacatctgctGatggacacatagaaagtaag	18	9	8	6	0	1	2	0	1	1	1	1	3	1	3	0	1	3	3	0	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:107719358G>A	ENST00000445937.1	+	9	1870	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	OXR1_ENST00000531443.1_Missense_Mutation_p.D537N|OXR1_ENST00000312046.6_Missense_Mutation_p.D530N|OXR1_ENST00000517566.2_Missense_Mutation_p.D537N|OXR1_ENST00000497705.1_Missense_Mutation_p.D470N|OXR1_ENST00000442977.2_Missense_Mutation_p.D538N|OXR1_ENST00000452423.2_Missense_Mutation_p.D27N	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	538					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TACATCTGCTGATGGACACAT	0.368													11	71					0	0	0	0	A	107719358	G	A	107719358	3	1	408	1	0	0	0	0	1	0	0	0	11405	1290	45	2	1842	2	OXR1	8	107719358	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2887545	107719358	38644664	1775	79593											
ANGPT1	284	broad.mit.edu	37	chr8	108315570	108315570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaaatggtttctcttcCtctctttttcctccctttag	4	21	3	13	0	3	0	0	0	3	0	9	0	6	0	3	1	0	1	3	1	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:108315570C>A	ENST00000520734.1	-	4	519	c.234G>T	c.(232-234)gaG>gaT	p.E78D	ANGPT1_ENST00000520052.1_Missense_Mutation_p.E77D|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	278					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTTTCTCTTCCTCTCTTTTTC	0.313													23	89					1.10923e-09	1.14765e-09	1	0	A	108315570	C	A	108315570	3	1	408	1	0	0	0	0	1	0	0	0	610	680	24	4	682	4	ANGPT1	8	108315570	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	596212	108315570	38048452	1776	79594											
TRHR	7201	broad.mit.edu	37	chr8	110131623	110131623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactgacacttacctgtctgCcacaaaagtgtcttttgatg	10	13	7	11	0	2	2	0	2	2	0	2	2	2	2	2	0	2	0	2	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110131623C>G	ENST00000518632.1	+	3	1487	c.1136C>G	c.(1135-1137)gCc>gGc	p.A379G	TRHR_ENST00000311762.2_Missense_Mutation_p.A379G			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	379						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TACCTGTCTGCCACAAAAGTG	0.418													14	140					0	0	0	0	G	110131623	C	G	110131623	3	3	408	1	0	0	0	0	1	0	0	0	16575	739	26	4	1142	4	TRHR	8	110131623	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1816053	110131623	36232399	1777	79595											
NUDCD1	84955	broad.mit.edu	37	chr8	110305700	110305700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttcagcatttagcagTgagatactgtgaattataat	12	16	8	5	0	2	2	1	2	1	1	2	3	2	2	0	0	3	3	0	0	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110305700T>C	ENST00000239690.4	-	4	887	c.513A>G	c.(511-513)tcA>tcG	p.S171S	NUDCD1_ENST00000427660.2_Silent_p.S142S	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	171										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)			CATTTAGCAGTGAGATACTGT	0.323													24	105					0	0	0	0	C	110305700	T	C	110305700	2	2	408	1	0	0	0	0	0	0	0	1	10793	1683	59	5		5	NUDCD1	8	110305700	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	174077	110305700	36058322	1778	79596											
PKHD1L1	93035	broad.mit.edu	37	chr8	110437463	110437463	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggacatattcttaaaggTatatgaaaaaaatttaaaat	20	14	5	2	0	1	1	0	1	1	0	1	2	1	2	0	2	0	1	0	2	11	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110437463T>C	ENST00000378402.5	+	24	2949		c.e24+2			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTTAAAGGTATATGAAAAA	0.313										HNSCC(38;0.096)			4	36					0	0	0	0	C	110437463	T	C	110437463	5	2	408	1	0	0	0	0	0	0	1	0	12044	1652	57	5	2941	5	PKHD1L1	8	110437463	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	131763	110437463	35926559	1779	79597											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457059	110457059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccaatgaatttgataggcGatttgtacttttgccaaaca	12	14	8	7	1	0	2	0	2	0	0	1	3	1	2	2	1	3	1	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110457059G>A	ENST00000378402.5	+	38	5065	c.4961G>A	c.(4960-4962)cGa>cAa	p.R1654Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1654					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGATAGGCGATTTGTACTT	0.433										HNSCC(38;0.096)			80	270					0	0	0	0	A	110457059	G	A	110457059	3	1	408	1	0	0	0	0	1	0	0	0	12044	1058	37	1	5111	1	PKHD1L1	8	110457059	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	19596	110457059	35906963	1780	79598											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457746	110457746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaatgaagtctactgccGcactcccgctgggaccactg	8	7	9	17	2	1	1	0	1	1	0	2	2	2	2	5	1	2	2	5	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110457746G>A	ENST00000378402.5	+	38	5752	c.5648G>A	c.(5647-5649)cGc>cAc	p.R1883H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1883	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R1883H(1)|p.R1885H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTACTGCCGCACTCCCGCT	0.438										HNSCC(38;0.096)			5	26					0	0	0	0	A	110457746	G	A	110457746	3	1	408	1	0	0	0	0	1	0	0	0	12044	1087	38	1	5798	1	PKHD1L1	8	110457746	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	687	110457746	35906276	1781	79599											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476892	110476892	+	Frame_Shift_Del	DEL	T	T	-																															aaagagttccccttggcgaaTtttttaacaatactgtccat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110476892delT	ENST00000378402.5	+	49	7935	c.7831delT	c.(7831-7833)ttfs	p.F2612fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2612					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTGGCGAATTTTTTAACAA	0.443										HNSCC(38;0.096)			60	184	---	---	---	---					-	110476892	T	-	110476892	7	5	408	1	0	1	0	1	0	0	0	0	12044	1493	52	0	8025	0	PKHD1L1	8	110476892	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	19146	110476892	35887130	1782	79600											
TRPS1	7227	broad.mit.edu	37	chr8	116617163	116617163	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaatttacagcggaaatActtggtgttcccttggcaat	11	12	10	8	1	0	1	0	0	0	1	1	2	1	2	1	3	3	3	1	3	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:116617163A>G	ENST00000395715.3	-	4	1610	c.1033T>C	c.(1033-1035)Tat>Cat	p.Y345H	TRPS1_ENST00000519674.1_Missense_Mutation_p.Y332H|TRPS1_ENST00000519076.1_Missense_Mutation_p.Y286H|TRPS1_ENST00000220888.5_Missense_Mutation_p.Y332H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Y336H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	332					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAGCGGAAATACTTGGTGTTC	0.408									Langer-Giedion syndrome				35	110					0	0	0	0	G	116617163	A	G	116617163	3	3	408	1	0	0	0	0	1	0	0	0	16688	391	14	5	2867	5	TRPS1	8	116617163	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6140271	116617163	29746859	1783	79601											
TRPS1	7227	broad.mit.edu	37	chr8	116631857	116631857	+	Frame_Shift_Del	DEL	G	G	-																															gtctccagtgagtcccctgaGggggtgcaggccatatcttg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:116631857delG	ENST00000395715.3	-	3	1045	c.468delC	c.(466-468)ccfs	p.P156fs	TRPS1_ENST00000519076.1_Frame_Shift_Del_p.P97fs|TRPS1_ENST00000520276.1_Frame_Shift_Del_p.P147fs|TRPS1_ENST00000220888.5_Frame_Shift_Del_p.P143fs|TRPS1_ENST00000519674.1_Frame_Shift_Del_p.P143fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	143					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTCCCCTGAGGGGGTGCAGG	0.532									Langer-Giedion syndrome				35	103	---	---	---	---					-	116631857	G	-	116631857	7	5	408	1	0	1	0	1	0	0	0	0	16688	987	35	0	3436	0	TRPS1	8	116631857	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	14694	116631857	29732165	1784	79602											
UTP23	84294	broad.mit.edu	37	chr8	117861266	117861266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccctgatgcatcttcAtcctgaataaaaatgacccc	11	10	5	15	1	2	3	1	3	1	0	4	3	3	3	5	0	1	1	5	0	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:117861266A>G	ENST00000520733.1	+	2	317	c.185A>G	c.(184-186)cAt>cGt	p.H62R	UTP23_ENST00000517820.1_3'UTR|RAD21_ENST00000518055.1_Silent_p.D86D|RAD21_ENST00000523986.1_Silent_p.D45D|RAD21_ENST00000297338.2_Silent_p.D541D|RAD21_ENST00000517749.1_5'UTR			Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	0					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						ATGCATCTTCATCCTGAATAA	0.408													40	168					0	0	0	0	G	117861266	A	G	117861266	3	3	408	1	0	0	0	0	1	0	0	0	17196	214	8	5		5	UTP23	8	117861266	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1229409	117861266	28502756	1785	79603											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945255	119945255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcgcccttccttgcattcGcacacgcggttgtgggtgcg	4	11	13	13	5	0	0	0	0	0	0	2	0	1	0	2	2	3	3	2	2	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:119945255G>A	ENST00000297350.4	-	2	693	c.315C>T	c.(313-315)tgC>tgT	p.C105C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	105					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCTTGCATTCGCACACGCGGT	0.552													19	70					0	0	0	0	A	119945255	G	A	119945255	2	1	408	1	0	0	0	0	0	0	0	1	16379	1079	38	1		1	TNFRSF11B	8	119945255	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2083989	119945255	26418767	1786	79604											
DSCC1	79075	broad.mit.edu	37	chr8	120855895	120855895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcatgtgttcaaaggaaCtttaccaaaagaccatgatt	16	10	8	7	0	1	2	1	1	0	1	1	3	1	3	2	2	2	2	2	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:120855895C>T	ENST00000313655.4	-	5	884	c.670G>A	c.(670-672)Gtt>Att	p.V224I		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	224					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCAAAGGAACTTTACCAAAA	0.378													5	278					0	0	0	0	T	120855895	C	T	120855895	3	4	408	1	0	0	0	0	1	0	0	0	4806	565	20	4	531	4	DSCC1	8	120855895	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	910640	120855895	25508127	1787	79605											
COL14A1	7373	broad.mit.edu	37	chr8	121219311	121219311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagttgtgtattatcctaCcaggggtggaaaaccagacg	12	9	12	8	1	0	2	0	0	0	2	1	3	1	3	3	3	2	2	3	3	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:121219311C>T	ENST00000297848.3	+	10	1439	c.1169C>T	c.(1168-1170)aCc>aTc	p.T390I	COL14A1_ENST00000247781.3_Missense_Mutation_p.T295I|COL14A1_ENST00000309791.4_Missense_Mutation_p.T390I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.T390I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	390	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TATTATCCTACCAGGGGTGGA	0.398													9	44					0	0	0	0	T	121219311	C	T	121219311	3	4	408	1	0	0	0	0	1	0	0	0	3701	507	18	4	1203	4	COL14A1	8	121219311	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	363416	121219311	25144711	1788	79606											
COL14A1	7373	broad.mit.edu	37	chr8	121259922	121259922	+	Frame_Shift_Del	DEL	C	C	-																															cggttgcgcattacgtgggaCcccccatcttccccggtgaa																								rs61738288	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:121259922delC	ENST00000297848.3	+	21	2820	c.2550delC	c.(2548-2550)gafs	p.D850fs	COL14A1_ENST00000309791.4_Frame_Shift_Del_p.D850fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.D755fs|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	850	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTACGTGGGACCCCCCATCTT	0.463													46	128	---	---	---	---					-	121259922	C	-	121259922	7	5	408	1	0	1	0	1	0	0	0	0	3701	506	18	0	2628	0	COL14A1	8	121259922	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	40611	121259922	25104100	1789	79607											
COL14A1	7373	broad.mit.edu	37	chr8	121293249	121293249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctggtaccttcaatgtgTttccatgttaccaactccat	9	14	6	12	0	1	0	1	0	0	0	3	0	3	0	5	1	4	3	5	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:121293249T>C	ENST00000297848.3	+	31	4045	c.3775T>C	c.(3775-3777)Ttt>Ctt	p.F1259L	COL14A1_ENST00000247781.3_Missense_Mutation_p.F1164L|COL14A1_ENST00000309791.4_Missense_Mutation_p.F1259L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1259	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTTCAATGTGTTTCCATGTTA	0.358													7	98					0	0	0	0	C	121293249	T	C	121293249	3	2	408	1	0	0	0	0	1	0	0	0	3701	1725	60	5	3893	5	COL14A1	8	121293249	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	33327	121293249	25070773	1790	79608											
HAS2	3037	broad.mit.edu	37	chr8	122641078	122641078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaattgcgttacgtgttgcGagctttctttatgtgactca	7	16	9	9	3	2	1	1	1	1	0	2	2	2	1	1	0	4	3	1	0	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:122641078G>A	ENST00000303924.4	-	2	1040	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	168						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TACGTGTTGCGAGCTTTCTTT	0.448													167	276					0	0	0	0	A	122641078	G	A	122641078	3	1	408	1	0	0	0	0	1	0	0	0	7012	1059	37	1	1167	1	HAS2	8	122641078	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1347829	122641078	23722944	1791	79609											
ZHX2	22882	broad.mit.edu	37	chr8	123965010	123965010	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccccgaacccaagcgTccacacatcgctcaggtgcc	8	5	9	19	3	1	0	1	0	0	0	3	1	2	0	5	1	4	2	5	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:123965010T>A	ENST00000314393.4	+	3	2095	c.1260T>A	c.(1258-1260)cgT>cgA	p.R420R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	420	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AACCCAAGCGTCCACACATCG	0.622													21	64					0	0	0	0	A	123965010	T	A	123965010	2	1	408	1	0	0	0	0	0	0	0	1	17771	1654	58	5		5	ZHX2	8	123965010	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1323932	123965010	22399012	1792	79610											
ATAD2	29028	broad.mit.edu	37	chr8	124359353	124359353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtctaatgttttatttgTtctgaattctgcatgtggaa	9	19	9	4	0	3	2	0	2	3	0	3	3	3	3	0	1	1	3	0	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:124359353T>C	ENST00000287394.5	-	16	2298	c.2191A>G	c.(2191-2193)Aca>Gca	p.T731A	ATAD2_ENST00000521903.1_Missense_Mutation_p.T49A	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTTTATTTGTTCTGAATTCT	0.353													16	95					0	0	0	0	C	124359353	T	C	124359353	3	2	408	1	0	0	0	0	1	0	0	0	1075	1725	60	5	2033	5	ATAD2	8	124359353	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	394343	124359353	22004669	1793	79611											
WDYHV1	55093	broad.mit.edu	37	chr8	124448756	124448756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttcatttatgatctcgatActgtcttgccatttccctgc	7	17	5	12	1	3	1	1	1	2	0	5	2	4	1	2	0	3	0	2	0	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:124448756A>G	ENST00000523984.1	+	4	346	c.118A>G	c.(118-120)Act>Gct	p.T40A	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000518125.1_Intron|WDYHV1_ENST00000287387.2_Missense_Mutation_p.T100A|WDYHV1_ENST00000523356.1_Missense_Mutation_p.T100A			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	100					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TGATCTCGATACTGTCTTGCC	0.388													19	92					0	0	0	0	G	124448756	A	G	124448756	3	3	408	1	0	0	0	0	1	0	0	0	17439	391	14	5	312	5	WDYHV1	8	124448756	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	89403	124448756	21915266	1794	79612											
FAM91A1	157769	broad.mit.edu	37	chr8	124796763	124796767	+	Frame_Shift_Del	DEL	ACTCT	ACTCT	-																															tgcaaggtgattattttgaaActctactctataagatattt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:124796763_124796767delACTCT	ENST00000334705.7	+	9	1003_1007	c.757_761delACTCT	c.(757-762)afs	p.TL253fs	FAM91A1_ENST00000521166.1_Frame_Shift_Del_p.TL253fs	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	253										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTATTTTGAAACTCTACTCTATAAG	0.317													10	65	---	---	---	---					-	124796767	ACTCT	-	124796763	7	5	408	1	0	1	0	1	0	0	0	0	5696	43	2	0	791	0	FAM91A1	8	124796763	Frame_Shift_Del	DEL	ACTCT	TCGA-F7-A624-01A-22D-A30E-08	348007	124796763	21567259	1795	79613											
FER1L6	654463	broad.mit.edu	37	chr8	125047642	125047642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggctatgaagcagaaaTgtcctccaaaggggctggca	13	7	13	8	0	0	2	0	1	0	1	2	2	2	2	2	4	1	5	2	4	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:125047642T>C	ENST00000522917.1	+	19	2617	c.2411T>C	c.(2410-2412)aTg>aCg	p.M804T	FER1L6_ENST00000399018.1_Missense_Mutation_p.M804T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	804						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGCAGAAATGTCCTCCAAA	0.552													8	100					0	0	0	0	C	125047642	T	C	125047642	3	2	408	1	0	0	0	0	1	0	0	0	5860	1464	51	5	2481	5	FER1L6	8	125047642	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	250879	125047642	21316380	1796	79614											
TMEM65	157378	broad.mit.edu	37	chr8	125334372	125334372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctagatctgacacaagAtttcccaaagcagcagctaa	15	7	7	12	0	1	3	0	1	1	2	2	3	2	3	2	0	4	4	2	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:125334372A>T	ENST00000297632.6	-	5	1023	c.489T>A	c.(487-489)aaT>aaA	p.N163K		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	163						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGACACAAGATTTCCCAAAG	0.313													30	93					0	0	0	0	T	125334372	A	T	125334372	3	4	408	1	0	0	0	0	1	0	0	0	16288	330	12	5	245	5	TMEM65	8	125334372	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	286730	125334372	21029650	1797	79615											
KIAA0196	9897	broad.mit.edu	37	chr8	126059447	126059447	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagaattcaggtacacctActttgggtctgtgatccgca	9	13	10	9	1	2	2	1	1	1	1	3	2	3	2	2	2	2	3	2	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:126059447A>G	ENST00000318410.7	-	20	2854		c.e20+1		KIAA0196_ENST00000517845.1_Splice_Site	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196						cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGGTACACCTACTTTGGGTCT	0.517													17	75					0	0	0	0	G	126059447	A	G	126059447	5	3	408	1	0	0	0	0	0	0	1	0	8212	405	14	5	1013	5	KIAA0196	8	126059447	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	725075	126059447	20304575	1798	79616											
KIAA0196	9897	broad.mit.edu	37	chr8	126059484	126059484	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggatttctctgcagagTcgaccaataaacgttacaga	13	9	9	10	3	1	2	0	0	1	2	3	4	1	3	1	1	3	3	1	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:126059484T>C	ENST00000318410.7	-	20	2818	c.2469A>G	c.(2467-2469)cgA>cgG	p.R823R	KIAA0196_ENST00000517845.1_Silent_p.R675R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	823					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCTGCAGAGTCGACCAATAA	0.463													8	72					0	0	0	0	C	126059484	T	C	126059484	2	2	408	1	0	0	0	0	0	0	0	1	8212	1654	58	5		5	KIAA0196	8	126059484	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	37	126059484	20304538	1799	79617											
FAM84B	157638	broad.mit.edu	37	chr8	127569449	127569449	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcccgtccccAccgtcgggcaagccgccgcc	3	2	16	20	8	0	0	0	0	0	0	2	0	1	0	7	5	1	1	7	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:127569449A>G	ENST00000304916.3	-	2	641	c.186T>C	c.(184-186)ggT>ggC	p.G62G	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	62	Pro-rich.					cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GCCCGTCCCCACCGTCGGGCA	0.677													8	25					0	0	0	0	G	127569449	A	G	127569449	2	3	408	1	0	0	0	0	0	0	0	1	5688	146	6	5		5	FAM84B	8	127569449	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1509965	127569449	18794573	1800	79618											
ASAP1	50807	broad.mit.edu	37	chr8	131149240	131149240	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcttcggcattaggtttTacttggcaggtgagaaggtt	7	16	13	5	1	1	1	0	1	1	1	2	2	1	1	0	5	1	4	0	5	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:131149240T>C	ENST00000357668.1	-	13	1152	c.1125A>G	c.(1123-1125)gtA>gtG	p.V375V	ASAP1_ENST00000518721.1_Silent_p.V375V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	375	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CATTAGGTTTTACTTGGCAGG	0.428													36	166					0	0	0	0	C	131149240	T	C	131149240	2	2	408	1	0	0	0	0	0	0	0	1	1014	1741	61	5		5	ASAP1	8	131149240	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3579791	131149240	15214782	1801	79619											
EFR3A	23167	broad.mit.edu	37	chr8	132952768	132952768	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatgctgctgctgttccgcTttgcgtcctcgctacaaacg	5	13	10	13	4	0	0	0	0	0	0	3	0	2	0	2	0	6	7	2	0	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:132952768T>G	ENST00000254624.5	+	2	258	c.33T>G	c.(31-33)gcT>gcG	p.A11A	EFR3A_ENST00000519656.1_5'UTR|EFR3A_ENST00000334503.4_Silent_p.A11A	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	11						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCTGTTCCGCTTTGCGTCCTC	0.373													6	13					0	0	0	0	G	132952768	T	G	132952768	2	3	408	1	0	0	0	0	0	0	0	1	4994	1596	56	5		5	EFR3A	8	132952768	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1803528	132952768	13411254	1802	79620											
PHF20L1	51105	broad.mit.edu	37	chr8	133848928	133848928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatgaaattgtgcgatgtAtttgtgagatggatgaggag	12	14	14	1	1	0	3	0	3	0	1	0	7	0	5	0	2	1	1	0	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:133848928A>G	ENST00000395386.2	+	16	2352	c.2053A>G	c.(2053-2055)Att>Gtt	p.I685V	PHF20L1_ENST00000395390.2_Missense_Mutation_p.I660V|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I72V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	685							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGTGCGATGTATTTGTGAGAT	0.398													4	144					0	0	0	0	G	133848928	A	G	133848928	3	3	408	1	0	0	0	0	1	0	0	0	11904	449	16	5	2207	5	PHF20L1	8	133848928	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	896160	133848928	12515094	1803	79621											
TG	7038	broad.mit.edu	37	chr8	133895231	133895231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacccggcagcaaggggaGccgccatcttgtggtgggtt	7	7	17	10	2	1	0	0	0	1	0	1	2	1	2	3	6	3	3	3	6	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:133895231G>A	ENST00000220616.4	+	8	1102	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	TG_ENST00000377869.1_Silent_p.E354E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	354	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGGGGAGCCGCCATCTT	0.597													11	69					0	0	0	0	A	133895231	G	A	133895231	2	1	408	1	0	0	0	0	0	0	0	1	15907	962	34	4		4	TG	8	133895231	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	46303	133895231	12468791	1804	79622											
FAM135B	51059	broad.mit.edu	37	chr8	139145030	139145030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgttgatcatttctgCataaactggccctgtaaagt	10	14	10	7	0	2	1	1	1	1	0	2	2	2	1	1	2	2	4	1	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:139145030C>T	ENST00000395297.1	-	20	4197	c.4027G>A	c.(4027-4029)Gca>Aca	p.A1343T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1343										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)			ATCATTTCTGCATAAACTGGC	0.488										HNSCC(54;0.14)			7	302					0	0	0	0	T	139145030	C	T	139145030	3	4	408	1	0	0	0	0	1	0	0	0	5490	710	25	4	197	4	FAM135B	8	139145030	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5249799	139145030	7218992	1805	79623											
FAM135B	51059	broad.mit.edu	37	chr8	139164668	139164668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcaatgcctgaatcagAtatgatggatgaagatctct	13	12	8	8	0	3	5	2	3	2	2	5	6	3	6	1	1	1	0	1	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:139164668A>G	ENST00000395297.1	-	13	2220	c.2050T>C	c.(2050-2052)Tct>Cct	p.S684P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	684										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)			CCTGAATCAGATATGATGGAT	0.532										HNSCC(54;0.14)			49	73					0	0	0	0	G	139164668	A	G	139164668	3	3	408	1	0	0	0	0	1	0	0	0	5490	333	12	5	2202	5	FAM135B	8	139164668	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	19638	139164668	7199354	1806	79624											
FAM135B	51059	broad.mit.edu	37	chr8	139165179	139165179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaacattcatcttcaggCacacctgctttgttttgaaa	10	14	6	11	0	3	1	2	1	1	0	4	1	4	1	2	1	2	3	2	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:139165179C>T	ENST00000395297.1	-	13	1709	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	513								p.V513V(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)			CATCTTCAGGCACACCTGCTT	0.458										HNSCC(54;0.14)			9	150					0	0	0	0	T	139165179	C	T	139165179	2	4	408	1	0	0	0	0	0	0	0	1	5490	697	25	4		4	FAM135B	8	139165179	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	511	139165179	7198843	1807	79625											
CHRAC1	54108	broad.mit.edu	37	chr8	141525311	141525311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgaggagaatgacaatGataatgaaagtgaccatgat	19	8	11	3	0	0	8	0	6	0	2	0	9	0	8	1	1	0	0	1	1	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:141525311G>C	ENST00000220913.5	+	3	563	c.361G>C	c.(361-363)Gat>Cat	p.D121H	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	121					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAATGACAATGATAATGAAAG	0.383													42	91					0	0	0	0	C	141525311	G	C	141525311	3	2	408	1	0	0	0	0	1	0	0	0	3400	1290	45	2	371	2	CHRAC1	8	141525311	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2360132	141525311	4838711	1808	79626											
PTK2	5747	broad.mit.edu	37	chr8	141889621	141889621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctccctcacactggagAcgcccatatccacgtgaagc	10	8	7	16	2	2	2	1	1	1	1	4	3	3	2	3	1	1	0	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:141889621A>G	ENST00000522684.1	-	4	540	c.311T>C	c.(310-312)gTc>gCc	p.V104A	PTK2_ENST00000520892.1_Missense_Mutation_p.V104A|PTK2_ENST00000517887.1_Missense_Mutation_p.V148A|PTK2_ENST00000340930.3_Missense_Mutation_p.V104A|PTK2_ENST00000521059.1_Missense_Mutation_p.V104A|PTK2_ENST00000395218.2_Missense_Mutation_p.V104A|PTK2_ENST00000519419.1_Missense_Mutation_p.V148A|PTK2_ENST00000519881.1_Missense_Mutation_p.V104A|PTK2_ENST00000535192.1_Missense_Mutation_p.V104A	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	104	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CACACTGGAGACGCCCATATC	0.502													124	372					0	0	0	0	G	141889621	A	G	141889621	3	3	408	1	0	0	0	0	1	0	0	0	12842	275	10	5	2963	5	PTK2	8	141889621	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	364310	141889621	4474401	1809	79627											
SLC45A4	57210	broad.mit.edu	37	chr8	142228394	142228394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgcgcgacggcttgaTcagcaccacggcgttggcgc	6	7	14	14	6	1	1	1	1	0	0	1	2	1	1	1	3	3	4	1	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:142228394T>C	ENST00000519067.1	-	4	1495	c.1192A>G	c.(1192-1194)Atc>Gtc	p.I398V	SLC45A4_ENST00000024061.3_Missense_Mutation_p.I398V|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I391V|SLC45A4_ENST00000517878.1_Missense_Mutation_p.I449V			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	449					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GACGGCTTGATCAGCACCACG	0.687													20	80					0	0	0	0	C	142228394	T	C	142228394	3	2	408	1	0	0	0	0	1	0	0	0	14731	1435	50	5	1224	5	SLC45A4	8	142228394	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	338773	142228394	4135628	1810	79628											
SLC45A4	57210	broad.mit.edu	37	chr8	142228901	142228901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtctgggaaggcagggaCgccgtgcggctcgcccccat	5	6	15	15	5	1	0	0	0	1	0	3	2	1	2	3	4	1	2	3	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:142228901C>T	ENST00000519067.1	-	4	988	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	SLC45A4_ENST00000024061.3_Missense_Mutation_p.V229I|SLC45A4_ENST00000433583.2_Missense_Mutation_p.V222I|SLC45A4_ENST00000517878.1_Missense_Mutation_p.V280I			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	280					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AAGGCAGGGACGCCGTGCGGC	0.677													84	200					0	0	0	0	T	142228901	C	T	142228901	3	4	408	1	0	0	0	0	1	0	0	0	14731	536	19	1	1731	1	SLC45A4	8	142228901	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	507	142228901	4135121	1811	79629											
TSNARE1	203062	broad.mit.edu	37	chr8	143425546	143425546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaacgtcgcggcgacagtAgcccagcgcattcacggcct	9	5	11	16	6	1	0	1	0	0	0	2	1	1	0	2	2	3	2	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:143425546A>G	ENST00000524325.1	-	4	701	c.526T>C	c.(526-528)Tac>Cac	p.Y176H	TSNARE1_ENST00000307180.3_Missense_Mutation_p.Y176H|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.Y176H			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	176					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGCGACAGTAGCCCAGCGCA	0.692													16	149					0	0	0	0	G	143425546	A	G	143425546	3	3	408	1	0	0	0	0	1	0	0	0	16725	420	15	5	1055	5	TSNARE1	8	143425546	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1196645	143425546	2938476	1812	79630											
C8orf31	286122	broad.mit.edu	37	chr8	144124506	144124506	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacgcacagggacagagggTaggcctgcgggggagagggc	9	3	21	8	2	0	3	0	1	0	2	0	5	0	4	1	6	1	2	1	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144124506T>C	ENST00000395172.1	+	2	438		c.e2+2		C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31											breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGACAGAGGGTAGGCCTGCGG	0.612													23	108					0	0	0	0	C	144124506	T	C	144124506	5	2	408	1	0	0	0	0	0	0	1	0	2444	1652	57	5	90	5	C8orf31	8	144124506	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	698960	144124506	2239516	1813	79631											
ZC3H3	23144	broad.mit.edu	37	chr8	144523233	144523233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctggcactgggcgccgcGgggacacgcccccctgcggg	4	3	17	17	5	0	0	0	0	0	0	0	1	0	1	4	5	2	2	4	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144523233G>A	ENST00000262577.5	-	10	2396	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	789					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGGGCGCCGCGGGGACACGCC	0.711													7	18					0	0	0	0	A	144523233	G	A	144523233	3	1	408	1	0	0	0	0	1	0	0	0	17664	1116	39	1	493	1	ZC3H3	8	144523233	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	398727	144523233	1840789	1814	79632											
GSDMD	79792	broad.mit.edu	37	chr8	144644191	144644191	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacgggcagaggtggagAccatctccaaggaactggag	11	5	15	10	1	1	2	0	0	1	2	2	5	1	4	3	5	2	1	3	5	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144644191A>T	ENST00000526406.1	+	11	1769	c.886A>T	c.(886-888)Acc>Tcc	p.T296S	GSDMD_ENST00000533063.1_Missense_Mutation_p.T344S|GSDMD_ENST00000262580.4_Missense_Mutation_p.T296S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	296										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAGGTGGAGACCATCTCCAA	0.642													18	88					0	0	0	0	T	144644191	A	T	144644191	3	4	408	1	0	0	0	0	1	0	0	0	6869	275	10	5	912	5	GSDMD	8	144644191	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	120958	144644191	1719831	1815	79633											
FAM83H	286077	broad.mit.edu	37	chr8	144810789	144810789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgagggcacaagcggctcgGactgcgcgaagaggatgcgg	9	3	18	11	6	0	1	0	0	0	1	1	5	0	3	1	5	3	2	1	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144810789G>A	ENST00000388913.3	-	5	967	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	281					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGCGGCTCGGACTGCGCGAA	0.682													10	45					0	0	0	0	A	144810789	G	A	144810789	3	1	408	1	0	0	0	0	1	0	0	0	5686	1174	41	2	2701	2	FAM83H	8	144810789	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	166598	144810789	1553233	1816	79634											
PUF60	22827	broad.mit.edu	37	chr8	144899293	144899295	+	In_Frame_Del	DEL	AGG	AGG	-																															gaggggatggtgaccgggatAggaggacgggctggggtcac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144899293_144899295delAGG	ENST00000526683.1	-	11	1720_1722	c.1165_1167delCCT	c.(1165-1167)del	p.P389del	PUF60_ENST00000453551.2_In_Frame_Del_p.P346del|PUF60_ENST00000527197.1_In_Frame_Del_p.P343del|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_In_Frame_Del_p.P360del|PUF60_ENST00000349157.6_In_Frame_Del_p.P372del|PUF60_ENST00000313352.7_In_Frame_Del_p.P329del	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	389	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGACCGGGATAGGAGGACGGGCT	0.631													11	24	---	---	---	---					-	144899295	AGG	-	144899293	7	5	408	1	0	1	0	1	0	0	0	0	12906	407	15	0	520	0	PUF60	8	144899293	In_Frame_Del	DEL	AGG	TCGA-F7-A624-01A-22D-A30E-08	88504	144899293	1464729	1817	79635											
EPPK1	83481	broad.mit.edu	37	chr8	144940348	144940348	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccggtaggccacgtccacGggcacgcggtggctgtgcac	5	5	16	15	6	0	0	0	0	0	0	1	0	1	0	3	5	1	4	3	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144940348G>A	ENST00000525985.1	-	2	7145	c.7074C>T	c.(7072-7074)ccC>ccT	p.P2358P				P58107	EPIPL_HUMAN	epiplakin 1	2358						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACGTCCACGGGCACGCGGT	0.692													35	767					0	0	0	0	A	144940348	G	A	144940348	2	1	408	1	0	0	0	0	0	0	0	1	5228	1103	39	1		1	EPPK1	8	144940348	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	41055	144940348	1423674	1818	79636											
EPPK1	83481	broad.mit.edu	37	chr8	144940741	144940741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgggcaccaggacgccCgcgatgcagctggtgccctc	5	6	15	15	4	0	0	0	0	0	0	1	2	0	1	3	4	3	3	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144940741C>T	ENST00000525985.1	-	2	6752	c.6681G>A	c.(6679-6681)gcG>gcA	p.A2227A				P58107	EPIPL_HUMAN	epiplakin 1	2227						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACGCCCGCGATGCAGC	0.677													5	203					0	0	0	0	T	144940741	C	T	144940741	2	4	408	1	0	0	0	0	0	0	0	1	5228	639	23	1		1	EPPK1	8	144940741	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	393	144940741	1423281	1819	79637											
EPPK1	83481	broad.mit.edu	37	chr8	144944255	144944255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggcatggggaggtggTggtggctggtggggtcaatg	5	9	21	6	0	1	0	1	0	0	0	1	1	1	1	1	10	0	2	1	10	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144944255T>C	ENST00000525985.1	-	2	3238	c.3167A>G	c.(3166-3168)cAc>cGc	p.H1056R				P58107	EPIPL_HUMAN	epiplakin 1	1056						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGAGGTGGTGGTGGCTGGT	0.612													3	38					0	0	0	0	C	144944255	T	C	144944255	3	2	408	1	0	0	0	0	1	0	0	0	5228	1696	59	5	4099	5	EPPK1	8	144944255	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3514	144944255	1419767	1820	79638											
PLEC	5339	broad.mit.edu	37	chr8	144996316	144996316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcggcctcatgctgcCgccgccgcgcctcctccatg	2	8	9	22	5	1	0	1	0	0	0	5	0	4	0	9	1	2	1	9	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144996316C>T	ENST00000322810.4	-	32	8253	c.8084G>A	c.(8083-8085)cGg>cAg	p.R2695Q	PLEC_ENST00000356346.3_Missense_Mutation_p.R2544Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2581Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2526Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2558Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2585Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2558Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2562Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2536Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2695	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCATGCTGCCGCCGCCGCGC	0.706													3	12					0	0	0	0	T	144996316	C	T	144996316	3	4	408	1	0	0	0	0	1	0	0	0	12124	652	23	1	5974	1	PLEC	8	144996316	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	52061	144996316	1367706	1821	79639											
PLEC	5339	broad.mit.edu	37	chr8	145001740	145001740	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttgctcgagctcgcgctgCcgcacgtcggtctgggccag	4	8	15	14	6	1	0	0	0	1	0	4	1	1	0	2	2	3	5	2	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145001740C>A	ENST00000322810.4	-	27	4174	c.4005G>T	c.(4003-4005)cgG>cgT	p.R1335R	PLEC_ENST00000356346.3_Silent_p.R1184R|PLEC_ENST00000527096.1_Silent_p.R1221R|PLEC_ENST00000398774.2_Silent_p.R1166R|PLEC_ENST00000354589.3_Silent_p.R1198R|PLEC_ENST00000436759.2_Silent_p.R1225R|PLEC_ENST00000345136.3_Silent_p.R1198R|PLEC_ENST00000357649.2_Silent_p.R1202R|PLEC_ENST00000354958.2_Silent_p.R1176R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1335	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGCGCTGCCGCACGTCGG	0.731													3	26					0.004672	0.00470748	1	0	A	145001740	C	A	145001740	2	1	408	1	0	0	0	0	0	0	0	1	12124	726	26	4		4	PLEC	8	145001740	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5424	145001740	1362282	1822	79640											
PLEC	5339	broad.mit.edu	37	chr8	145001841	145001841	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgctccccgtgccgctGctgcagtcgctcccccacct	2	8	9	22	4	0	0	0	0	0	0	4	0	3	0	7	0	3	5	7	0	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145001841G>A	ENST00000322810.4	-	27	4073	c.3904C>T	c.(3904-3906)Cag>Tag	p.Q1302*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q1151*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q1188*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q1133*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q1165*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q1192*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q1165*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q1169*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q1143*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1302	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGTGCCGCTGCTGCAGTCGC	0.731													6	14					0	0	0	0	A	145001841	G	A	145001841	4	1	408	1	0	0	0	0	0	1	0	0	12124	1328	46	4	10174	4	PLEC	8	145001841	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	101	145001841	1362181	1823	79641											
PLEC	5339	broad.mit.edu	37	chr8	145006691	145006692	+	Frame_Shift_Ins	INS	-	-	A																															cggctgccacaaagctgtgcINSaagctctccagggacctgag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145006691_145006692insA	ENST00000322810.4	-	16	2433_2434	c.2264_2265insT	c.(2263-2265)tcafs	p.S755fs	PLEC_ENST00000354958.2_Frame_Shift_Ins_p.S596fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.S586fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.S641fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.S618fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.S618fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.S604fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.S645fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.S622fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	755	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAAAGCTGTGCAAGCTCTCCAG	0.644													76	122	---	---	---	---					A	145006692	-	A	145006691	7	5	408	1	0	1	1	0	0	0	0	0	12124	709	25	0	11857	0	PLEC	8	145006691	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	4850	145006691	1357331	1824	79642											
PLEC	5339	broad.mit.edu	37	chr8	145007143	145007143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtagcgcagagtggagtCctccagctcggggcgcctct	6	7	15	13	3	1	1	0	0	1	1	4	2	3	2	3	4	2	3	3	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145007143C>T	ENST00000322810.4	-	14	2135	c.1966G>A	c.(1966-1968)Gac>Aac	p.D656N	PLEC_ENST00000356346.3_Missense_Mutation_p.D505N|PLEC_ENST00000527096.1_Missense_Mutation_p.D542N|PLEC_ENST00000398774.2_Missense_Mutation_p.D487N|PLEC_ENST00000354589.3_Missense_Mutation_p.D519N|PLEC_ENST00000436759.2_Missense_Mutation_p.D546N|PLEC_ENST00000345136.3_Missense_Mutation_p.D519N|PLEC_ENST00000357649.2_Missense_Mutation_p.D523N|PLEC_ENST00000354958.2_Missense_Mutation_p.D497N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	656	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGAGTGGAGTCCTCCAGCTCG	0.672													12	33					0	0	0	0	T	145007143	C	T	145007143	3	4	408	1	0	0	0	0	1	0	0	0	12124	855	30	2	12164	2	PLEC	8	145007143	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	452	145007143	1356879	1825	79643											
PLEC	5339	broad.mit.edu	37	chr8	145024532	145024532	+	Frame_Shift_Del	DEL	G	G	-																															accctgcacagcctgcacgtGgggggtgcggcgtgcgggca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145024532delG	ENST00000322810.4	-	1	512	c.343delC	c.(343-345)acfs	p.H115fs	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	115	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGCACGTGGGGGGTGCGG	0.731													16	15	---	---	---	---					-	145024532	G	-	145024532	7	5	408	1	0	1	0	1	0	0	0	0	12124	1348	47	0	14219	0	PLEC	8	145024532	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	17389	145024532	1339490	1826	79644											
PLEC	5339	broad.mit.edu	37	chr8	145024806	145024806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcttggccaccatcacGccctcgcggaagagcacctc	7	8	8	18	3	2	1	1	0	1	1	5	2	3	2	5	2	1	1	5	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145024806G>A	ENST00000322810.4	-	1	238	c.69C>T	c.(67-69)ggC>ggT	p.G23G	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	23	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACCATCACGCCCTCGCGGA	0.701													6	16					0	0	0	0	A	145024806	G	A	145024806	2	1	408	1	0	0	0	0	0	0	0	1	12124	1074	38	1		1	PLEC	8	145024806	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	274	145024806	1339216	1827	79645											
PARP10	84875	broad.mit.edu	37	chr8	145057500	145057500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatggcaccgctccaggcGagcacgcagctctgcaggca	9	4	12	16	3	1	0	0	0	1	0	2	1	2	0	3	3	3	7	3	3	0	0	rs139166854	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145057500G>A	ENST00000313028.7	-	8	2351	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	PARP10_ENST00000525773.1_Missense_Mutation_p.R765C|PARP10_ENST00000524918.1_Missense_Mutation_p.R744C	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	753	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCTCCAGGCGAGCACGCAGC	0.706													9	32					0	0	0	0	A	145057500	G	A	145057500	3	1	408	1	0	0	0	0	1	0	0	0	11526	1058	37	1	836	1	PARP10	8	145057500	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	32694	145057500	1306522	1828	79646											
SPATC1	375686	broad.mit.edu	37	chr8	145096225	145096225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttcccagagcgcgtaCggctctacggcttcactgtc	6	10	10	15	4	3	1	1	0	2	1	5	1	4	1	1	2	3	4	1	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145096225C>T	ENST00000377470.3	+	4	1501	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	467										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCGCGTACGGCTCTACGG	0.637													19	65					0	0	0	0	T	145096225	C	T	145096225	3	4	408	1	0	0	0	0	1	0	0	0	15107	527	19	1	1413	1	SPATC1	8	145096225	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	38725	145096225	1267797	1829	79647											
OPLAH	26873	broad.mit.edu	37	chr8	145106259	145106259	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggcccggcgatactcatAgacgctgccgtgctcgggaa	7	7	14	13	5	1	1	1	0	0	1	2	3	1	2	2	3	3	2	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145106259A>G	ENST00000426825.1	-	28	3916	c.3835T>C	c.(3835-3837)Tat>Cat	p.Y1279H	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1279							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGATACTCATAGACGCTGCCG	0.692													21	78					0	0	0	0	G	145106259	A	G	145106259	3	3	408	1	0	0	0	0	1	0	0	0	10947	420	15	5	35	5	OPLAH	8	145106259	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	10034	145106259	1257763	1830	79648											
OPLAH	26873	broad.mit.edu	37	chr8	145106322	145106322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccggcggtggggcggggtCctccgggtccccatagccac	3	5	16	17	4	0	0	0	0	0	0	3	0	3	0	7	7	1	0	7	7	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145106322C>T	ENST00000426825.1	-	28	3853	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1258							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGGGCGGGGTCCTCCGGGTCC	0.736													12	59					0	0	0	0	T	145106322	C	T	145106322	3	4	408	1	0	0	0	0	1	0	0	0	10947	855	30	2	98	2	OPLAH	8	145106322	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	63	145106322	1257700	1831	79649											
HSF1	3297	broad.mit.edu	37	chr8	145533482	145533482	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgaagagtgaagacAtaaagatccgccaggacagc	15	4	10	12	1	0	5	0	2	0	3	1	6	1	6	4	1	1	0	4	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145533482A>G	ENST00000528838.1	+	4	548	c.388A>G	c.(388-390)Ata>Gta	p.I130V	HSF1_ENST00000400780.4_Missense_Mutation_p.I65V	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	130	Hydrophobic repeat HR-A/B.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GAGTGAAGACATAAAGATCCG	0.592													10	137					0	0	0	0	G	145533482	A	G	145533482	3	3	408	1	0	0	0	0	1	0	0	0	7445	217	8	5	402	5	HSF1	8	145533482	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	427160	145533482	830540	1832	79650											
SLC39A4	55630	broad.mit.edu	37	chr8	145638731	145638731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtcggcgaagttgtgcAcggcgtcgcccagagtgatc	6	7	15	13	6	0	2	0	1	0	1	3	3	0	2	2	2	1	2	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145638731A>G	ENST00000276833.5	-	9	1745	c.1442T>C	c.(1441-1443)gTg>gCg	p.V481A	SLC39A4_ENST00000301305.3_Missense_Mutation_p.V506A|SLC39A4_ENST00000531013.1_5'UTR	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	506						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GAAGTTGTGCACGGCGTCGCC	0.687													7	34					0	0	0	0	G	145638731	A	G	145638731	3	3	408	1	0	0	0	0	1	0	0	0	14708	159	6	5	438	5	SLC39A4	8	145638731	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	105249	145638731	725291	1833	79651											
ARHGAP39	80728	broad.mit.edu	37	chr8	145756141	145756141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgcggggcagcgcgTgcaccacggccaccgccgcc	5	4	16	16	6	0	1	0	1	0	0	0	1	0	1	5	4	3	3	5	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145756141T>C	ENST00000276826.5	-	9	3203	c.3002A>G	c.(3001-3003)cAc>cGc	p.H1001R	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.H1001R|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.H1032R			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1001	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGCAGCGCGTGCACCACGGC	0.692													5	36					0	0	0	0	C	145756141	T	C	145756141	3	2	408	1	0	0	0	0	1	0	0	0	886	1696	59	5	257	5	ARHGAP39	8	145756141	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	117410	145756141	607881	1834	79652											
ARHGAP39	80728	broad.mit.edu	37	chr8	145758541	145758541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctggtcaccgttgaGcgccagcacctcctcagaga	7	9	10	15	2	4	2	2	1	2	1	5	3	5	2	4	1	2	2	4	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145758541G>A	ENST00000276826.5	-	7	2965	c.2764C>T	c.(2764-2766)Ctc>Ttc	p.L922F	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.L922F|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.L953F			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	922	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCACCGTTGAGCGCCAGCACC	0.672													5	181					0	0	0	0	A	145758541	G	A	145758541	3	1	408	1	0	0	0	0	1	0	0	0	886	971	34	4	503	4	ARHGAP39	8	145758541	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2400	145758541	605481	1835	79653											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771072	145771072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttggaggcccagttctcGatgtccgtctccgaggaggg	5	10	15	11	3	2	0	0	0	2	0	5	4	3	2	3	4	1	2	3	4	0	2	rs139243141	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145771072G>A	ENST00000276826.5	-	5	2283	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	ARHGAP39_ENST00000540274.1_Silent_p.I694I|ARHGAP39_ENST00000377307.2_Silent_p.I694I			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	694					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCCAGTTCTCGATGTCCGTCT	0.642													53	51					0	0	0	0	A	145771072	G	A	145771072	2	1	408	1	0	0	0	0	0	0	0	1	886	1048	37	1		1	ARHGAP39	8	145771072	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	12531	145771072	592950	1836	79654											
ARHGAP39	80728	broad.mit.edu	37	chr8	145772613	145772613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctagcttctcgaaggtgccCctcctccagtgcctgttctc	4	12	8	17	1	2	0	0	0	2	0	6	1	4	0	6	1	3	2	6	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145772613C>T	ENST00000276826.5	-	4	2058	c.1857G>A	c.(1855-1857)agG>agA	p.R619R	ARHGAP39_ENST00000540274.1_Silent_p.R619R|ARHGAP39_ENST00000377307.2_Silent_p.R619R			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	619					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGAAGGTGCCCCTCCTCCAGT	0.682													10	37					0	0	0	0	T	145772613	C	T	145772613	2	4	408	1	0	0	0	0	0	0	0	1	886	622	22	4		4	ARHGAP39	8	145772613	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1541	145772613	591409	1837	79655											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773100	145773100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcggctggctgtgcCgcagctcaggtccctccatg	3	8	16	14	3	1	0	1	0	0	0	3	0	3	0	3	4	2	4	3	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145773100C>T	ENST00000276826.5	-	4	1571	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R457Q|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R457Q			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	457					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTGGCTGTGCCGCAGCTCAGG	0.687													7	22					0	0	0	0	T	145773100	C	T	145773100	3	4	408	1	0	0	0	0	1	0	0	0	886	652	23	1	2006	1	ARHGAP39	8	145773100	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	487	145773100	590922	1838	79656											
ARHGAP39	80728	broad.mit.edu	37	chr8	145806259	145806277	+	Frame_Shift_Del	DEL	CGCCGCGGGCCGCCCGGCC	CGCCGCGGGCCGCCCGGCC	-																															tcctccttcactgtcccaaaCgccgcgggccgcccggccct																								rs117042905	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145806259_145806277delCGCCGCGGGCCGCCCGGCC	ENST00000276826.5	-	2	666_684	c.465_483delGGCCGGGCGGCCCGCGGCG	c.(463-483)agfs	p.RAGRPAA155fs	ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.RAGRPAA155fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.RAGRPAA155fs			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	155					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTGTCCCAAACGCCGCGGGCCGCCCGGCCCTCGCTGGCA	0.726													7	46	---	---	---	---					-	145806277	CGCCGCGGGCCGCCCGGCC	-	145806259	7	5	408	1	0	1	0	1	0	0	0	0	886	523	19	0	2901	0	ARHGAP39	8	145806259	Frame_Shift_Del	DEL	CGCCGCGGGCCGCCCGGCC	TCGA-F7-A624-01A-22D-A30E-08	33159	145806259	557763	1839	79657											
ZNF16	7564	broad.mit.edu	37	chr8	146157440	146157440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgagttctggctgaaggTtttcccacaatcatcacaca	12	11	7	11	0	3	2	2	2	1	0	4	2	4	2	1	2	1	3	1	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:146157440T>C	ENST00000276816.4	-	4	919	c.733A>G	c.(733-735)Acc>Gcc	p.T245A	ZNF16_ENST00000394909.2_Missense_Mutation_p.T245A	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGGCTGAAGGTTTTCCCACAA	0.463													55	261					0	0	0	0	C	146157440	T	C	146157440	3	2	408	1	0	0	0	0	1	0	0	0	17833	1725	60	5	1319	5	ZNF16	8	146157440	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	351181	146157440	206582	1840	79658											
CBWD1	55871	broad.mit.edu	37	chr9	164038	164038	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatagaagccactgcacCtgaaaatatataatattcat	19	10	4	8	0	1	2	1	1	0	1	1	2	1	2	2	0	3	1	2	0	9	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284													5	202					0	0	0	0	G	164038	C	G	164038	5	3	408	1	0	0	0	0	0	0	1	0	2737	695	24	4	801	4	CBWD1	9	164038	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08		164038	141049393	1841	79659											
KANK1	23189	broad.mit.edu	37	chr9	712027	712027	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccacagaggctccaggTcctgtaaggatgcagctgta	10	9	12	10	0	0	1	0	0	0	1	2	2	2	2	3	3	3	6	3	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:712027T>A	ENST00000382303.1	+	7	1913	c.1261T>A	c.(1261-1263)Tcc>Acc	p.S421T	KANK1_ENST00000382297.2_Missense_Mutation_p.S421T|KANK1_ENST00000382293.3_Missense_Mutation_p.S263T|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	421					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGGCTCCAGGTCCTGTAAGGA	0.552													28	79					0	0	0	0	A	712027	T	A	712027	3	1	408	1	0	0	0	0	1	0	0	0	8029	1667	58	5	1267	5	KANK1	9	712027	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	547989	712027	140501404	1842	79660											
VLDLR	7436	broad.mit.edu	37	chr9	2648271	2648271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttatccagcgtggactTgaatggccaagatcgtagga	11	10	12	8	2	0	2	0	1	0	1	2	4	1	4	2	3	1	2	2	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:2648271T>C	ENST00000382100.2	+	13	2242	c.1886T>C	c.(1885-1887)tTg>tCg	p.L629S	VLDLR_ENST00000382099.2_Missense_Mutation_p.L629S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	629					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGCGTGGACTTGAATGGCCAA	0.403													4	120					0	0	0	0	C	2648271	T	C	2648271	3	2	408	1	0	0	0	0	1	0	0	0	17270	1821	63	5	1936	5	VLDLR	9	2648271	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1936244	2648271	138565160	1843	79661											
RCL1	10171	broad.mit.edu	37	chr9	4826916	4826916	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatctgtggaacatgactgTagcgtccttcgtggcattgg	7	12	14	8	2	1	1	0	1	1	0	3	3	2	3	1	4	2	2	1	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:4826916T>C	ENST00000381750.4	+	3	490	c.267T>C	c.(265-267)tgT>tgC	p.C89C	RCL1_ENST00000381732.3_Silent_p.C89C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	89					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		AACATGACTGTAGCGTCCTTC	0.438													26	252					0	0	0	0	C	4826916	T	C	4826916	2	2	408	1	0	0	0	0	0	0	0	1	13260	1644	57	5		5	RCL1	9	4826916	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2178645	4826916	136386515	1844	79662											
KIAA2026	158358	broad.mit.edu	37	chr9	5920253	5920253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctccatattttggattagTagatataaggagaacatggc	13	12	11	5	0	0	2	0	0	0	2	1	4	1	3	1	4	1	2	1	4	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:5920253T>C	ENST00000399933.3	-	8	5742	c.5743A>G	c.(5743-5745)Act>Gct	p.T1915A	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T1885A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1915										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTGGATTAGTAGATATAAGG	0.438													10	237					0	0	0	0	C	5920253	T	C	5920253	3	2	408	1	0	0	0	0	1	0	0	0	8321	1638	57	5	572	5	KIAA2026	9	5920253	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1093337	5920253	135293178	1845	79663											
KIAA2026	158358	broad.mit.edu	37	chr9	5969030	5969030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaactttaaaaaactgagGacacaaccccagtttttcag	17	9	6	9	0	1	2	1	1	0	1	1	3	1	3	2	1	3	1	2	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:5969030G>A	ENST00000399933.3	-	3	1200	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P401S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	401										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAAAACTGAGGACACAACCCC	0.423													10	21					0	0	0	0	A	5969030	G	A	5969030	3	1	408	1	0	0	0	0	1	0	0	0	8321	1174	41	2	5134	2	KIAA2026	9	5969030	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	48777	5969030	135244401	1846	79664											
GLDC	2731	broad.mit.edu	37	chr9	6588634	6588634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagtggaatcatgctgTgaacaagggaaatgtcttta	13	11	10	7	0	2	1	1	1	1	0	2	3	2	3	1	2	3	1	1	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:6588634T>C	ENST00000321612.6	-	13	1799	c.1649A>G	c.(1648-1650)cAc>cGc	p.H550R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	550					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AATCATGCTGTGAACAAGGGA	0.433													18	42					0	0	0	0	C	6588634	T	C	6588634	3	2	408	1	0	0	0	0	1	0	0	0	6484	1696	59	5	1465	5	GLDC	9	6588634	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	619604	6588634	134624797	1847	79665											
PTPRD	5789	broad.mit.edu	37	chr9	8331712	8331712	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcagtgaactggaactGccttactgttcgggactggc	8	10	12	11	1	1	1	1	1	0	0	2	3	1	3	2	3	4	1	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:8331712G>A	ENST00000381196.4	-	41	5947	c.5404C>T	c.(5404-5406)Cag>Tag	p.Q1802*	PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q1802*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q1396*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q1392*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q1802*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q1392*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q1780*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q1789*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1802	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACTGGAACTGCCTTACTGTT	0.507										TSP Lung(15;0.13)			23	49					0	0	0	0	A	8331712	G	A	8331712	4	1	408	1	0	0	0	0	0	1	0	0	12881	1328	46	4	346	4	PTPRD	9	8331712	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1743078	8331712	132881719	1848	79666											
NFIB	4781	broad.mit.edu	37	chr9	14150259	14150259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccagttccctgggttaTgggcgctgaggaataagaca	10	9	13	9	1	0	2	0	1	0	1	2	4	2	3	2	3	0	3	2	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:14150259T>C	ENST00000380959.3	-	5	1164	c.691A>G	c.(691-693)Ata>Gta	p.I231V	NFIB_ENST00000397581.2_Missense_Mutation_p.I231V|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380934.4_Missense_Mutation_p.I257V|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000380953.1_Missense_Mutation_p.I231V|NFIB_ENST00000397579.2_Missense_Mutation_p.I231V|NFIB_ENST00000397575.3_Missense_Mutation_p.I231V	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	231					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCCTGGGTTATGGGCGCTGAG	0.443			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								90	287					0	0	0	0	C	14150259	T	C	14150259	3	2	408	1	0	0	0	0	1	0	0	0	10441	1464	51	5	591	5	NFIB	9	14150259	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5818547	14150259	127063172	1849	79667											
CNTLN	54875	broad.mit.edu	37	chr9	17340896	17340896	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacagatgttacagaccaaCtacagagcagtaaaagagca	18	6	8	9	0	0	4	0	0	0	4	0	4	0	4	1	0	6	4	1	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:17340896C>T	ENST00000380647.3	+	11	1800	c.1716C>T	c.(1714-1716)aaC>aaT	p.N572N	CNTLN_ENST00000262360.5_Silent_p.N572N|CNTLN_ENST00000425824.1_Silent_p.N572N			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	572						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TACAGACCAACTACAGAGCAG	0.388													7	42					0	0	0	0	T	17340896	C	T	17340896	2	4	408	1	0	0	0	0	0	0	0	1	3669	564	20	4		4	CNTLN	9	17340896	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3190637	17340896	123872535	1850	79668											
CNTLN	54875	broad.mit.edu	37	chr9	17462981	17462983	+	In_Frame_Del	DEL	AAG	AAG	-																															gaaatttgaactcctagcaaAagaagaacacataaaggaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:17462981_17462983delAAG	ENST00000380647.3	+	20	3458_3460	c.3374_3376delAAG	c.(3373-3378)aaa>a	p.KE1125del	CNTLN_ENST00000425824.1_In_Frame_Del_p.KE1125del|CNTLN_ENST00000262360.5_In_Frame_Del_p.KE1125del			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1125						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTCCTAGCAAAAGAAGAACACAT	0.32													9	56	---	---	---	---					-	17462983	AAG	-	17462981	7	5	408	1	0	1	0	1	0	0	0	0	3669	14	1	0	3482	0	CNTLN	9	17462981	In_Frame_Del	DEL	AAG	TCGA-F7-A624-01A-22D-A30E-08	122085	17462981	123750450	1851	79669											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18892440	18892440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtgggggaggtgtccAgacccgcagggtgacctgtc	6	7	18	10	1	0	2	0	1	0	1	2	4	1	3	3	4	1	2	3	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:18892440A>G	ENST00000380548.4	+	26	5036	c.4697A>G	c.(4696-4698)cAg>cGg	p.Q1566R	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.Q267R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1566	TSP type-1 8.					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)		GGAGGTGTCCAGACCCGCAGG	0.617													3	21					0	0	0	0	G	18892440	A	G	18892440	3	3	408	1	0	0	0	0	1	0	0	0	274	188	7	5	4803	5	ADAMTSL1	9	18892440	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1429459	18892440	122320991	1852	79670											
HAUS6	54801	broad.mit.edu	37	chr9	19076689	19076689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggggagacattggtggtAaaagatctacagacttaaaa	18	8	11	4	0	1	3	0	0	1	3	1	4	1	3	0	4	1	1	0	4	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19076689A>G	ENST00000380502.3	-	11	1672	c.1205T>C	c.(1204-1206)tTa>tCa	p.L402S	HAUS6_ENST00000380496.1_Missense_Mutation_p.L266S	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	402					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATTGGTGGTAAAAGATCTAC	0.338													15	55					0	0	0	0	G	19076689	A	G	19076689	3	3	408	1	0	0	0	0	1	0	0	0	7020	372	13	5	1690	5	HAUS6	9	19076689	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	184249	19076689	122136742	1853	79671											
PLIN2	123	broad.mit.edu	37	chr9	19118342	19118342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacagtgggactcatcagTatcatcatatccaatgctcc	12	10	7	12	0	4	0	4	0	0	0	6	1	6	1	2	1	2	3	2	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19118342T>C	ENST00000276914.2	-	7	1068	c.889A>G	c.(889-891)Act>Gct	p.T297A	PLIN2_ENST00000411567.1_Missense_Mutation_p.T216A	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	297					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GACTCATCAGTATCATCATAT	0.413													21	62					0	0	0	0	C	19118342	T	C	19118342	3	2	408	1	0	0	0	0	1	0	0	0	12162	1638	57	5	432	5	PLIN2	9	19118342	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	41653	19118342	122095089	1854	79672											
DENND4C	55667	broad.mit.edu	37	chr9	19296163	19296164	+	Frame_Shift_Ins	INS	-	-	T																															tgtttactctcacactggccINStttttttgaagcttttagga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19296163_19296164insT	ENST00000380432.2	+	2	284_285	c.251_252insT	c.(250-252)cttfs	p.L84fs	DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000602925.1_Frame_Shift_Ins_p.L320fs|DENND4C_ENST00000434457.2_Frame_Shift_Ins_p.L320fs	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	84	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCACACTGGCCTTTTTTTGAAG	0.366													28	133	---	---	---	---					T	19296164	-	T	19296163	7	5	408	1	0	1	1	0	0	0	0	0	4472	681	24	0	257	0	DENND4C	9	19296163	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	177821	19296163	121917268	1855	79673											
DENND4C	55667	broad.mit.edu	37	chr9	19332077	19332077	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtttatggtttatttgTcttccggcctatgttagagt	7	19	9	6	1	1	1	0	0	1	1	2	1	2	1	2	2	1	3	2	2	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19332077T>C	ENST00000380432.2	+	13	1680	c.1647T>C	c.(1645-1647)tgT>tgC	p.C549C	DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Silent_p.C785C|DENND4C_ENST00000540671.1_Intron|DENND4C_ENST00000602925.1_Silent_p.C785C	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	549						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGTTTATTTGTCTTCCGGCCT	0.383													21	49					0	0	0	0	C	19332077	T	C	19332077	2	2	408	1	0	0	0	0	0	0	0	1	4472	1673	58	5		5	DENND4C	9	19332077	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	35914	19332077	121881354	1856	79674											
DENND4C	55667	broad.mit.edu	37	chr9	19346377	19346377	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactactgcaacagtagatAcatatgagagtctactaagt	17	10	7	7	0	1	2	0	1	1	2	1	3	1	2	0	0	6	2	0	0	8	6	rs142943763	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19346377A>G	ENST00000307015.9	+	19	2926	c.1174A>G	c.(1174-1176)Aca>Gca	p.T392A	DENND4C_ENST00000380432.2_Missense_Mutation_p.T919A|DENND4C_ENST00000434457.2_Missense_Mutation_p.T1204A|DENND4C_ENST00000540671.1_Missense_Mutation_p.T249A|DENND4C_ENST00000602925.1_Missense_Mutation_p.T1155A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	919	dDENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AACAGTAGATACATATGAGAG	0.408													12	64					0	0	0	0	G	19346377	A	G	19346377	3	3	408	1	0	0	0	0	1	0	0	0	4472	391	14	5	2825	5	DENND4C	9	19346377	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	14300	19346377	121867054	1857	79675											
SLC24A2	25769	broad.mit.edu	37	chr9	19550199	19550199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaaacaatcagaaacGtgacttgcttgcgggtttca	12	10	12	7	2	2	2	2	1	0	1	2	3	2	3	0	3	4	2	0	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19550199G>T	ENST00000341998.2	-	7	1476	c.1415C>A	c.(1414-1416)aCg>aAg	p.T472K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.T455K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	472					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AATCAGAAACGTGACTTGCTT	0.438													6	158					0.0215528	0.0216729	1	0	T	19550199	G	T	19550199	3	4	408	1	0	0	0	0	1	0	0	0	14554	1145	40	3	586	3	SLC24A2	9	19550199	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	203822	19550199	121663232	1858	79676											
IFNA2	3440	broad.mit.edu	37	chr9	21385105	21385105	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcatggaggacagggatgGtttcagccttttggaactgg	8	12	14	7	0	2	0	2	0	1	0	3	4	2	4	1	6	2	1	1	6	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:21385105G>C	ENST00000380206.2	-	1	291	c.224C>G	c.(223-225)aCc>aGc	p.T75S		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	75					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GACAGGGATGGTTTCAGCCTT	0.478													6	211					0	0	0	0	C	21385105	G	C	21385105	3	2	408	1	0	0	0	0	1	0	0	0	7590	1261	44	4	346	4	IFNA2	9	21385105	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1834906	21385105	119828326	1859	79677											
TEK	7010	broad.mit.edu	37	chr9	27217744	27217744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaattacagtgtgtacacaaCcaacagtgatgtgtgagtaa	15	10	10	6	0	0	2	0	2	0	0	0	3	0	2	1	0	4	2	1	0	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:27217744C>T	ENST00000380036.4	+	19	3492	c.3050C>T	c.(3049-3051)aCc>aTc	p.T1017I	TEK_ENST00000519097.1_Missense_Mutation_p.T869I|TEK_ENST00000406359.4_Missense_Mutation_p.T974I	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1017	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GTGTACACAACCAACAGTGAT	0.428													15	61					0	0	0	0	T	27217744	C	T	27217744	3	4	408	1	0	0	0	0	1	0	0	0	15845	507	18	4	3124	4	TEK	9	27217744	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5832639	27217744	113995687	1860	79678											
BAG1	573	broad.mit.edu	37	chr9	33255240	33255240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggccagggcaaagtttgTagactgcagccgctcagtct	8	9	12	12	2	2	1	1	0	1	1	3	1	2	1	2	2	2	5	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:33255240T>C	ENST00000472232.3	-	7	1101	c.1015A>G	c.(1015-1017)Aca>Gca	p.T339A	BAG1_ENST00000379704.2_Missense_Mutation_p.T224A|BAG1_ENST00000467389.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	BCL2-associated athanogene	339	Interaction with PPP1R15A.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GCAAAGTTTGTAGACTGCAGC	0.562													39	111					0	0	0	0	C	33255240	T	C	33255240	3	2	408	1	0	0	0	0	1	0	0	0	1290	1638	57	5	26	5	BAG1	9	33255240	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	6037496	33255240	107958191	1861	79679											
UBAP2	55833	broad.mit.edu	37	chr9	33933540	33933540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccagtgtgctgggatgTggacggcagaagtgcagtgc	7	8	18	8	2	0	1	0	0	0	1	1	3	0	3	1	3	3	3	1	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:33933540T>C	ENST00000379238.1	-	18	2173	c.2056A>G	c.(2056-2058)Aca>Gca	p.T686A	UBAP2_ENST00000360802.1_Missense_Mutation_p.T686A|UBAP2_ENST00000449054.1_Missense_Mutation_p.T686A|UBAP2_ENST00000379239.4_Missense_Mutation_p.T419A|UBAP2_ENST00000418786.2_Missense_Mutation_p.T633A|UBAP2_ENST00000539807.1_Missense_Mutation_p.T441A			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	686										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGCTGGGATGTGGACGGCAGA	0.597													17	47					0	0	0	0	C	33933540	T	C	33933540	3	2	408	1	0	0	0	0	1	0	0	0	16933	1696	59	5	1351	5	UBAP2	9	33933540	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	678300	33933540	107279891	1862	79680											
KIAA1161	57462	broad.mit.edu	37	chr9	34371428	34371428	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttctgtgactggtagcctAcgcgcacctccgccagcgag	6	9	12	14	4	1	1	0	1	1	0	2	2	2	1	4	1	3	3	4	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:34371428A>G	ENST00000297625.7	-	2	1637	c.1412T>C	c.(1411-1413)gTa>gCa	p.V471A		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	505					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTGGTAGCCTACGCGCACCTC	0.662													16	41					0	0	0	0	G	34371428	A	G	34371428	3	3	408	1	0	0	0	0	1	0	0	0	8262	391	14	5	634	5	KIAA1161	9	34371428	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	437888	34371428	106842003	1863	79681											
IL11RA	3590	broad.mit.edu	37	chr9	34660857	34660857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctatgccccaggctgagGctgagacggggtgggaagga	8	8	17	8	1	1	2	0	2	1	1	1	5	1	4	2	6	1	2	2	6	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:34660857G>A	ENST00000555003.1	+	12	2532	c.1176G>A	c.(1174-1176)agG>agA	p.R392R	IL11RA_ENST00000441545.2_Silent_p.R392R|IL11RA_ENST00000318041.9_Silent_p.R392R			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	392						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCAGGCTGAGGCTGAGACGGG	0.532													68	281					0	0	0	0	A	34660857	G	A	34660857	2	1	408	1	0	0	0	0	0	0	0	1	7676	1194	42	4		4	IL11RA	9	34660857	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	289429	34660857	106552574	1864	79682											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-																															cttttgagcctccgatgccaCccccctgccaatccccagct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35043650delC	ENST00000312292.5	+	2	1071	c.1024delC	c.(1024-1026)ccfs	p.P343fs	C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	343										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCGATGCCACCCCCCTGCCA	0.527													133	634	---	---	---	---					-	35043650	C	-	35043650	7	5	408	1	0	1	0	1	0	0	0	0	2482	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	382793	35043650	106169781	1865	79683											
UNC13B	10497	broad.mit.edu	37	chr9	35376184	35376184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagggcatgcgctgcagcGaatgtggagtcaagtgccat	9	7	16	9	2	1	0	1	0	0	0	1	2	1	1	1	3	4	4	1	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35376184G>A	ENST00000378495.3	+	14	1750	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E522K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E510K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	510					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			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)			GCGCTGCAGCGAATGTGGAGT	0.612													37	132					0	0	0	0	A	35376184	G	A	35376184	3	1	408	1	0	0	0	0	1	0	0	0	17081	1059	37	1	1582	1	UNC13B	9	35376184	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	332534	35376184	105837247	1866	79684											
RUSC2	9853	broad.mit.edu	37	chr9	35548395	35548395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtctgtcagggaccccActccagtgagatgcctcctg	7	8	11	15	0	2	1	1	1	1	1	4	3	4	2	6	2	1	0	6	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35548395A>G	ENST00000455600.1	+	2	2446	c.1877A>G	c.(1876-1878)cAc>cGc	p.H626R		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	626						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGGACCCCACTCCAGTGAG	0.647													20	67					0	0	0	0	G	35548395	A	G	35548395	3	3	408	1	0	0	0	0	1	0	0	0	13836	159	6	5	1879	5	RUSC2	9	35548395	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	172211	35548395	105665036	1867	79685											
RUSC2	9853	broad.mit.edu	37	chr9	35555441	35555441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgactcttctgcctccacttCgtgctcccctcccccagagc	4	11	6	20	1	2	2	0	1	2	1	6	2	5	2	6	0	3	1	6	0	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35555441C>T	ENST00000455600.1	+	3	2968	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	800						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTCCACTTCGTGCTCCCCT	0.667													86	199					0	0	0	0	T	35555441	C	T	35555441	3	4	408	1	0	0	0	0	1	0	0	0	13836	893	31	1	2405	1	RUSC2	9	35555441	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	7046	35555441	105657990	1868	79686											
TLN1	7094	broad.mit.edu	37	chr9	35706785	35706785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgagagattccctcacGgggagcaagctgctggctga	8	9	13	11	1	2	3	1	2	1	1	3	5	3	4	1	3	3	4	1	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35706785G>A	ENST00000314888.9	-	38	5421	c.5068C>T	c.(5068-5070)Cgt>Tgt	p.R1690C	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Splice_Site_p.L1690_splice	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1690	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.R1690S(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATTCCCTCACGGGGAGCAAGC	0.532													44	123					0	0	0	0	A	35706785	G	A	35706785	3	1	408	1	0	0	0	0	1	0	0	0	16041	1116	39	1	2637	1	TLN1	9	35706785	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	151344	35706785	105506646	1869	79687											
TLN1	7094	broad.mit.edu	37	chr9	35720085	35720085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgctggtaatctgctgcTgggcagggggcatgctgccc	4	8	17	12	1	1	0	0	0	1	0	1	0	1	0	2	5	4	7	2	5	1	1	rs144393265	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35720085T>C	ENST00000314888.9	-	13	1768	c.1415A>G	c.(1414-1416)cAg>cGg	p.Q472R	TLN1_ENST00000540444.1_Missense_Mutation_p.Q472R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	472					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AATCTGCTGCTGGGCAGGGGG	0.627													27	68					0	0	0	0	C	35720085	T	C	35720085	3	2	408	1	0	0	0	0	1	0	0	0	16041	1580	55	5	6390	5	TLN1	9	35720085	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	13300	35720085	105493346	1870	79688											
GBA2	57704	broad.mit.edu	37	chr9	35737315	35737315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatatgctcagtggccGcatgtaggccagtgagcgga	8	7	15	11	2	1	1	1	1	0	0	1	2	1	2	3	4	2	3	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35737315G>A	ENST00000378103.3	-	17	3158	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R885W|GBA2_ENST00000378094.4_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	879					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCAGTGGCCGCATGTAGGCC	0.602													19	73					0	0	0	0	A	35737315	G	A	35737315	3	1	408	1	0	0	0	0	1	0	0	0	6316	1086	38	1	152	1	GBA2	9	35737315	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	17230	35737315	105476116	1871	79689											
MSMP	692094	broad.mit.edu	37	chr9	35753693	35753693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccaacaggatgcagacagGtgcaatggaaacagtccttg	13	6	12	10	1	0	1	0	0	0	1	1	3	1	3	2	3	4	2	2	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35753693G>A	ENST00000436428.2	-	2	342	c.203C>T	c.(202-204)aCc>aTc	p.T68I	MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	68						extracellular region				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						ATGCAGACAGGTGCAATGGAA	0.522													10	35					0	0	0	0	A	35753693	G	A	35753693	3	1	408	1	0	0	0	0	1	0	0	0	9954	1261	44	4	224	4	MSMP	9	35753693	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	16378	35753693	105459738	1872	79690											
NPR2	4882	broad.mit.edu	37	chr9	35806427	35806427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggacaacctcctgctgcGcatggaacagtatgccaata	12	9	9	11	1	0	0	0	0	0	0	1	2	1	2	3	2	5	3	3	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35806427G>A	ENST00000342694.2	+	16	2666	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	804					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTCCTGCTGCGCATGGAACAG	0.517													23	63					0	0	0	0	A	35806427	G	A	35806427	3	1	408	1	0	0	0	0	1	0	0	0	10666	1087	38	1	2473	1	NPR2	9	35806427	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	52734	35806427	105407004	1873	79691											
OR13J1	392309	broad.mit.edu	37	chr9	35870045	35870045	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtagcggtcataggcCgtgatggccagtagcaggca	9	6	16	10	2	1	1	1	1	0	0	1	1	1	1	3	5	2	4	3	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35870045C>A	ENST00000377981.2	-	1	416	c.354G>T	c.(352-354)acG>acT	p.T118T		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCATAGGCCGTGATGGCCA	0.617													24	70					6.44725e-10	6.67513e-10	1	0	A	35870045	C	A	35870045	2	1	408	1	0	0	0	0	0	0	0	1	11015	639	23	3		3	OR13J1	9	35870045	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	63618	35870045	105343386	1874	79692											
RECK	8434	broad.mit.edu	37	chr9	36122906	36122906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgtcccatgtccctctctCtgccctcatcatttcccagg	4	12	7	18	1	4	0	2	0	2	0	8	0	7	0	4	2	1	0	4	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:36122906C>T	ENST00000377966.3	+	21	3346	c.2780C>T	c.(2779-2781)tCt>tTt	p.S927F		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	927						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTCCCTCTCTCTGCCCTCATC	0.552													6	165					0	0	0	0	T	36122906	C	T	36122906	3	4	408	1	0	0	0	0	1	0	0	0	13282	913	32	2	2862	2	RECK	9	36122906	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	252861	36122906	105090525	1875	79693											
CCIN	881	broad.mit.edu	37	chr9	36169867	36169867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagttcactgtaacgactTccttattaagtccatctgcc	9	14	6	12	2	2	0	1	0	1	0	5	2	4	0	3	0	2	2	3	0	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:36169867T>C	ENST00000335119.2	+	1	479	c.368T>C	c.(367-369)tTc>tCc	p.F123S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	123	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGTAACGACTTCCTTATTAAG	0.502													8	120					0	0	0	0	C	36169867	T	C	36169867	3	2	408	1	0	0	0	0	1	0	0	0	2905	1783	62	5	370	5	CCIN	9	36169867	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	46961	36169867	105043564	1876	79694											
ZCCHC7	84186	broad.mit.edu	37	chr9	37126525	37126525	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaattcggaatcttcgAgtagtaaaccaaatcagaag	15	9	10	7	2	2	1	1	0	1	1	4	4	2	3	1	2	1	2	1	2	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:37126525A>G	ENST00000336755.5	+	2	302	c.196A>G	c.(196-198)Agt>Ggt	p.S66G	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S65G	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	66							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GGAATCTTCGAGTAGTAAACC	0.418													7	239					0	0	0	0	G	37126525	A	G	37126525	3	3	408	1	0	0	0	0	1	0	0	0	17688	304	11	5	198	5	ZCCHC7	9	37126525	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	956658	37126525	104086906	1877	79695											
SHB	6461	broad.mit.edu	37	chr9	38016099	38016099	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcattcttggcatcaaaGggatctgagtagtcatcggc	11	11	11	8	1	5	2	3	1	2	1	6	3	5	3	0	3	0	2	0	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:38016099G>T	ENST00000377707.3	-	2	1312	c.747C>A	c.(745-747)ccC>ccA	p.P249P	RP11-613M10.9_ENST00000540557.1_Silent_p.P249P|SHB_ENST00000377700.4_Silent_p.P249P	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	249	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGGCATCAAAGGGATCTGAGT	0.507													42	109					1.59361e-14	1.66677e-14	1	0	T	38016099	G	T	38016099	2	4	408	1	0	0	0	0	0	0	0	1	14356	987	35	4		4	SHB	9	38016099	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	889574	38016099	103197332	1878	79696											
IGFBPL1	347252	broad.mit.edu	37	chr9	38411462	38411462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagatctagaaccgtcaCtgtgctgtgggactcagcct	9	10	10	12	1	4	2	3	0	1	2	4	3	4	3	2	1	3	1	2	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:38411462C>T	ENST00000377694.1	-	4	794	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	258	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		AGAACCGTCACTGTGCTGTGG	0.498													15	61					0	0	0	0	T	38411462	C	T	38411462	3	4	408	1	0	0	0	0	1	0	0	0	7638	565	20	4	68	4	IGFBPL1	9	38411462	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	395363	38411462	102801969	1879	79697											
CBWD6	644019	broad.mit.edu	37	chr9	69247573	69247573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaacccaaaacatagaagCcactgcacgtgaaaatatat	19	7	5	10	1	1	2	1	1	0	1	1	2	1	2	2	0	4	1	2	0	9	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:69247573C>T	ENST00000377457.5	-	5	544	c.439G>A	c.(439-441)Gct>Act	p.A147T	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	147							ATP binding			lung(4)	4						AACATAGAAGCCACTGCACGT	0.269													4	27					0	0	0	0	T	69247573	C	T	69247573	3	4	408	1	0	0	0	0	1	0	0	0	2741	739	26	4	792	4	CBWD6	9	69247573	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	30836111	69247573	71965858	1880	79698											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	9	12	11	9	2	1	2	0	1	1	1	3	4	1	3	1	3	1	1	1	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478													12	99					0	0	0	0	G	70993145	A	G	70993145	3	3	408	1	0	0	0	0	1	0	0	0	11873	217	8	5	298	5	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1745572	70993145	70220286	1881	79699											
FAM122A	116224	broad.mit.edu	37	chr9	71395719	71395719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggaaactgaatatcaGccaaagagatttttccaggg	16	9	10	6	0	1	2	1	1	0	1	2	5	2	3	2	2	2	0	2	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:71395719G>A	ENST00000394264.3	+	1	756	c.639G>A	c.(637-639)caG>caA	p.Q213Q	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	213										endometrium(1)|lung(2)	3						CTGAATATCAGCCAAAGAGAT	0.453													21	107					0	0	0	0	A	71395719	G	A	71395719	2	1	408	1	0	0	0	0	0	0	0	1	5460	962	34	4		4	FAM122A	9	71395719	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	402574	71395719	69817712	1882	79700											
FAM189A2	9413	broad.mit.edu	37	chr9	71986447	71986447	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgctctctgtggtttgTgtcctcttaaatctagctgg	4	17	11	9	0	3	0	0	0	3	0	5	0	4	0	1	2	3	4	1	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:71986447T>C	ENST00000257515.8	+	3	465	c.45T>C	c.(43-45)tgT>tgC	p.C15C	FAM189A2_ENST00000455972.1_Silent_p.C15C|FAM189A2_ENST00000303068.7_Intron	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	15						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTGGTTTGTGTCCTCTTAA	0.448													9	156					0	0	0	0	C	71986447	T	C	71986447	2	2	408	1	0	0	0	0	0	0	0	1	5559	1702	59	5		5	FAM189A2	9	71986447	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	590728	71986447	69226984	1883	79701											
APBA1	320	broad.mit.edu	37	chr9	72067080	72067080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagtggatcaggtcatcGttgtacatgtcctgggtatt	9	13	13	6	1	2	1	2	0	0	1	4	3	3	2	1	3	1	3	1	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:72067080G>A	ENST00000265381.4	-	9	2148	c.1926C>T	c.(1924-1926)aaC>aaT	p.N642N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	642	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCAGGTCATCGTTGTACATGT	0.517													47	164					0	0	0	0	A	72067080	G	A	72067080	2	1	408	1	0	0	0	0	0	0	0	1	757	1136	40	1		1	APBA1	9	72067080	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	80633	72067080	69146351	1884	79702											
TRPM3	80036	broad.mit.edu	37	chr9	73442894	73442894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgttgagaacagtgagcTtgctcatgggattggacatg	9	12	14	6	0	1	2	1	2	0	1	1	5	1	4	0	2	4	4	0	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:73442894T>C	ENST00000377110.2	-	6	1085	c.842A>G	c.(841-843)aAg>aGg	p.K281R	TRPM3_ENST00000377111.2_Missense_Mutation_p.K281R|TRPM3_ENST00000396285.1_Missense_Mutation_p.K128R|TRPM3_ENST00000358082.3_Missense_Mutation_p.K128R|TRPM3_ENST00000377106.1_Missense_Mutation_p.K128R|TRPM3_ENST00000377105.1_Missense_Mutation_p.K128R|TRPM3_ENST00000360823.2_Missense_Mutation_p.K128R|TRPM3_ENST00000396283.1_Missense_Mutation_p.K128R|TRPM3_ENST00000396292.4_Missense_Mutation_p.K128R|TRPM3_ENST00000357533.2_Missense_Mutation_p.K283R|TRPM3_ENST00000396280.5_Missense_Mutation_p.K128R|TRPM3_ENST00000361823.5_Missense_Mutation_p.K128R|TRPM3_ENST00000408909.2_Missense_Mutation_p.K128R|TRPM3_ENST00000423814.3_Missense_Mutation_p.K283R|TRPM3_ENST00000377101.1_Missense_Mutation_p.K128R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	281						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AACAGTGAGCTTGCTCATGGG	0.463													8	184					0	0	0	0	C	73442894	T	C	73442894	3	2	408	1	0	0	0	0	1	0	0	0	16682	1609	56	5	4484	5	TRPM3	9	73442894	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1375814	73442894	67770537	1885	79703											
TRPM3	80036	broad.mit.edu	37	chr9	73461507	73461507	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaaagatactcgcacatActggaagaagaaaggacatc	19	6	8	8	1	1	3	1	0	0	3	3	5	1	5	0	2	2	1	0	2	7	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:73461507A>G	ENST00000377110.2	-	4	706	c.462_splice	c.e4-1	p.Y155_splice	TRPM3_ENST00000377111.2_Splice_Site_p.Y155_splice|TRPM3_ENST00000396285.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000358082.3_Splice_Site_p.Y2_splice|TRPM3_ENST00000377106.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000377105.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000360823.2_Splice_Site_p.Y2_splice|TRPM3_ENST00000396283.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000396292.4_Splice_Site_p.Y2_splice|TRPM3_ENST00000357533.2_Splice_Site_p.Y157_splice|TRPM3_ENST00000396280.5_Splice_Site_p.Y2_splice|TRPM3_ENST00000361823.5_Splice_Site_p.Y2_splice|TRPM3_ENST00000408909.2_Splice_Site_p.Y2_splice|TRPM3_ENST00000377097.3_Splice_Site_p.Y2_splice|TRPM3_ENST00000423814.3_Splice_Site_p.Y157_splice|TRPM3_ENST00000377101.1_Splice_Site_p.Y2_splice	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	155						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTCGCACATACTGGAAGAAG	0.428													15	52					0	0	0	0	G	73461507	A	G	73461507	5	3	408	1	0	0	0	0	0	0	1	0	16682	405	14	5	4871	5	TRPM3	9	73461507	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	18613	73461507	67751924	1886	79704											
TMEM2	23670	broad.mit.edu	37	chr9	74360281	74360281	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccccatgtaactccagTgtcccgccagcttccacacc	7	8	7	19	2	0	0	0	0	0	0	3	0	3	0	7	0	3	2	7	0	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:74360281T>C	ENST00000377044.4	-	4	1226	c.687A>G	c.(685-687)acA>acG	p.T229T	TMEM2_ENST00000377066.5_Silent_p.T229T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	229	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTAACTCCAGTGTCCCGCCAG	0.473													7	124					0	0	0	0	C	74360281	T	C	74360281	2	2	408	1	0	0	0	0	0	0	0	1	16215	1683	59	5		5	TMEM2	9	74360281	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	898774	74360281	66853150	1887	79705											
C9orf41	138199	broad.mit.edu	37	chr9	77599851	77599851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatccatactgcagaacaAcgttttttatatcctcatag	13	14	5	9	1	1	2	1	1	0	1	3	2	3	2	2	0	4	2	2	0	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:77599851A>G	ENST00000376834.3	-	7	1252	c.1100T>C	c.(1099-1101)gTt>gCt	p.V367A	C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	367										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTGCAGAACAACGTTTTTTAT	0.358													9	61					0	0	0	0	G	77599851	A	G	77599851	3	3	408	1	0	0	0	0	1	0	0	0	2507	43	2	5	137	5	C9orf41	9	77599851	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3239570	77599851	63613580	1888	79706											
PRUNE2	158471	broad.mit.edu	37	chr9	79322842	79322842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatattttgtgaaattcaTcccatctgaagtctcagtag	12	15	6	8	0	3	2	2	2	2	0	5	2	4	2	1	0	1	1	1	0	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:79322842T>C	ENST00000428286.1	-	8	4471	c.3271A>G	c.(3271-3273)Atg>Gtg	p.M1091V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.M1450V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1450					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAAATTCATCCCATCTGAA	0.423													31	71					0	0	0	0	C	79322842	T	C	79322842	3	2	408	1	0	0	0	0	1	0	0	0	12720	1435	50	5	4966	5	PRUNE2	9	79322842	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1722991	79322842	61890589	1889	79707											
PRUNE2	158471	broad.mit.edu	37	chr9	79323182	79323182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcttcatcaaggtgcccCctgtcagtggctccctgggc	4	11	10	16	0	4	0	3	0	1	0	6	0	6	0	4	3	1	1	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:79323182C>A	ENST00000428286.1	-	8	4131	c.2931G>T	c.(2929-2931)agG>agT	p.R977S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.R1336S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1336					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGGTGCCCCCTGTCAGTGG	0.527													17	66					1.99824e-07	2.05285e-07	1	0	A	79323182	C	A	79323182	3	1	408	1	0	0	0	0	1	0	0	0	12720	622	22	4	5306	4	PRUNE2	9	79323182	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	340	79323182	61890249	1890	79708											
TLE1	7088	broad.mit.edu	37	chr9	84205764	84205764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacacagcgatgttgccGtcgctgcagcatgagaagca	10	7	11	13	3	0	1	0	1	0	1	2	3	1	1	2	0	5	5	2	0	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:84205764G>A	ENST00000376499.3	-	16	2849	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	595					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGATGTTGCCGTCGCTGCAGC	0.607													33	97					0	0	0	0	A	84205764	G	A	84205764	2	1	408	1	0	0	0	0	0	0	0	1	16032	1136	40	1		1	TLE1	9	84205764	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4882582	84205764	57007667	1891	79709											
KIF27	55582	broad.mit.edu	37	chr9	86474116	86474116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtttttcatccacattGtgtctgcgtttctggagctg	6	18	9	8	1	3	0	1	0	2	0	4	1	4	1	1	1	2	3	1	1	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:86474116G>C	ENST00000297814.2	-	14	3248	c.3105C>G	c.(3103-3105)caC>caG	p.H1035Q	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.H938Q|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.H969Q|RP11-575L7.4_ENST00000592283.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1035					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATCCACATTGTGTCTGCGTT	0.413													28	128					0	0	0	0	C	86474116	G	C	86474116	3	2	408	1	0	0	0	0	1	0	0	0	8347	1368	48	4	1120	4	KIF27	9	86474116	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2268352	86474116	54739315	1892	79710											
KIF27	55582	broad.mit.edu	37	chr9	86523470	86523470	+	Frame_Shift_Del	DEL	T	T	-																															tacacttctatataagatacTtttacattaaagtcaatgct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:86523470delT	ENST00000297814.2	-	3	539	c.396delA	c.(394-396)aafs	p.K132fs	KIF27_ENST00000334204.2_Frame_Shift_Del_p.K132fs|KIF27_ENST00000413982.1_Frame_Shift_Del_p.K132fs	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	132	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TATAAGATACTTTTACATTAA	0.378													46	127	---	---	---	---					-	86523470	T	-	86523470	7	5	408	1	0	1	0	1	0	0	0	0	8347	1606	56	0	3873	0	KIF27	9	86523470	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	49354	86523470	54689961	1893	79711											
NTRK2	4915	broad.mit.edu	37	chr9	87636213	87636213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgcagcgaccccgcaCgtgcccccaggaggtgtatg	7	6	13	15	3	0	0	0	0	0	0	1	2	1	1	5	2	3	3	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:87636213C>T	ENST00000376214.1	+	21	3316	c.2378C>T	c.(2377-2379)aCg>aTg	p.T793M	NTRK2_ENST00000376213.1_Missense_Mutation_p.T777M|NTRK2_ENST00000323115.4_Missense_Mutation_p.T777M|NTRK2_ENST00000277120.3_Missense_Mutation_p.T793M	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	777	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CGACCCCGCACGTGCCCCCAG	0.552										TSP Lung(25;0.17)			18	50					0	0	0	0	T	87636213	C	T	87636213	3	4	408	1	0	0	0	0	1	0	0	0	10778	536	19	1	2523	1	NTRK2	9	87636213	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1112743	87636213	53577218	1894	79712											
AGTPBP1	23287	broad.mit.edu	37	chr9	88272527	88272527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaagcacttggacataTcctctgtctacagctctcct	10	13	6	12	0	3	0	0	0	3	0	5	1	4	1	2	1	3	3	2	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:88272527T>C	ENST00000337006.4	-	9	981	c.520A>G	c.(520-522)Ata>Gta	p.I174V	AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.I174V|AGTPBP1_ENST00000376109.3_Silent_p.G296G|AGTPBP1_ENST00000357081.3_Silent_p.G244G|AGTPBP1_ENST00000376083.3_Silent_p.G244G|AGTPBP1_ENST00000432218.1_Silent_p.G82G|AGTPBP1_ENST00000491784.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	0					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTGGACATATCCTCTGTCTA	0.343													3	34					0	0	0	0	C	88272527	T	C	88272527	3	2	408	1	0	0	0	0	1	0	0	0	400	1422	50	5	2896	5	AGTPBP1	9	88272527	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	636314	88272527	52940904	1895	79713											
NAA35	60560	broad.mit.edu	37	chr9	88633297	88633297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccccgccgccagtgcactActtacagttcaaggtgaacc	10	7	9	15	2	1	1	1	1	0	0	1	2	1	1	5	1	4	2	5	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:88633297A>G	ENST00000361671.5	+	20	2034	c.1901A>G	c.(1900-1902)tAc>tGc	p.Y634C		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	634					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CCAGTGCACTACTTACAGTTC	0.423													9	28					0	0	0	0	G	88633297	A	G	88633297	3	3	408	1	0	0	0	0	1	0	0	0	10193	391	14	5	1975	5	NAA35	9	88633297	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	360770	88633297	52580134	1896	79714											
DAPK1	1612	broad.mit.edu	37	chr9	90322130	90322130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctcatgtccaaactgaggGagctgggtcgccgggatgcc	7	7	14	13	2	1	1	1	1	0	0	3	3	2	3	4	3	3	1	4	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:90322130G>A	ENST00000469640.2	+	27	4594	c.4219G>A	c.(4219-4221)Gag>Aag	p.E1407K	DAPK1_ENST00000472284.1_Missense_Mutation_p.E1382K|DAPK1_ENST00000408954.3_Missense_Mutation_p.E1382K|DAPK1_ENST00000358077.5_Missense_Mutation_p.E1382K|DAPK1_ENST00000491893.1_Missense_Mutation_p.E1316K			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1382					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAAACTGAGGGAGCTGGGTCG	0.607									Chronic Lymphocytic Leukemia, Familial Clustering of				9	35					0	0	0	0	A	90322130	G	A	90322130	3	1	408	1	0	0	0	0	1	0	0	0	4268	1175	41	2	4242	2	DAPK1	9	90322130	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1688833	90322130	50891301	1897	79715											
CKS2	1164	broad.mit.edu	37	chr9	91930190	91930190	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagagtctaggctgggtTcattacatgattcatgagcc	11	11	10	9	0	3	3	2	2	1	1	3	3	3	3	1	2	3	2	1	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:91930190T>C	ENST00000314355.6	+	2	260	c.165T>C	c.(163-165)gtT>gtC	p.V55V		NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	55					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						TAGGCTGGGTTCATTACATGA	0.373													36	88					0	0	0	0	C	91930190	T	C	91930190	2	2	408	1	0	0	0	0	0	0	0	1	3483	1770	62	5		5	CKS2	9	91930190	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1608060	91930190	49283241	1898	79716											
SEMA4D	10507	broad.mit.edu	37	chr9	92002325	92002325	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgacaaacatgacatcatAgacagtcccatccagggcct	13	7	8	13	0	1	3	1	2	0	1	3	3	3	3	3	1	1	1	3	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:92002325A>G	ENST00000450295.1	-	12	2082	c.1306T>C	c.(1306-1308)Tat>Cat	p.Y436H	SEMA4D_ENST00000339861.4_Missense_Mutation_p.Y436H|SEMA4D_ENST00000343780.4_Missense_Mutation_p.Y436H|SEMA4D_ENST00000420987.1_Missense_Mutation_p.Y436H|SEMA4D_ENST00000455551.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000356444.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000438547.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000422704.2_Missense_Mutation_p.Y436H			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	436	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ATGACATCATAGACAGTCCCA	0.527													17	67					0	0	0	0	G	92002325	A	G	92002325	3	3	408	1	0	0	0	0	1	0	0	0	14121	420	15	5	1872	5	SEMA4D	9	92002325	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	72135	92002325	49211106	1899	79717											
NOL8	55035	broad.mit.edu	37	chr9	95076818	95076818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggtactatggcagcTgtctttgtcaaagcctatgt	7	16	10	8	0	2	0	1	0	1	0	2	0	2	0	1	2	3	3	1	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95076818T>C	ENST00000545558.1	-	7	2581	c.2089A>G	c.(2089-2091)Agc>Ggc	p.S697G	NOL8_ENST00000442668.2_Missense_Mutation_p.S697G|NOL8_ENST00000358855.4_Missense_Mutation_p.S629G|NOL8_ENST00000542053.1_Missense_Mutation_p.S629G|NOL8_ENST00000535387.1_Missense_Mutation_p.S697G			Q76FK4	NOL8_HUMAN	nucleolar protein 8	697					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTATGGCAGCTGTCTTTGTCA	0.428													6	24					0	0	0	0	C	95076818	T	C	95076818	3	2	408	1	0	0	0	0	1	0	0	0	10597	1580	55	5	1458	5	NOL8	9	95076818	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3074493	95076818	46136613	1900	79718											
OMD	4958	broad.mit.edu	37	chr9	95177629	95177629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccataataaatagtgtgTatatgagggaagcagaagaa	18	9	10	4	0	1	3	1	1	0	2	1	4	1	4	1	1	1	2	1	1	9	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95177629T>C	ENST00000375550.4	-	3	1346	c.1071A>G	c.(1069-1071)atA>atG	p.I357M	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	357					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						AAATAGTGTGTATATGAGGGA	0.353			T	USP6	aneurysmal bone cysts								4	41					0	0	0	0	C	95177629	T	C	95177629	3	2	408	1	0	0	0	0	1	0	0	0	10936	1628	57	5	198	5	OMD	9	95177629	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	100811	95177629	46035802	1901	79719											
ASPN	54829	broad.mit.edu	37	chr9	95237107	95237107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcatattcttcagtgCgatgtgtgaagggctaaaga	12	11	11	7	1	3	2	2	1	1	1	3	3	3	2	0	1	2	2	0	1	4	4	rs146516859		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95237107C>T	ENST00000375544.3	-	2	316	c.73G>A	c.(73-75)Gca>Aca	p.A25T	ASPN_ENST00000375543.1_Missense_Mutation_p.A25T|ASPN_ENST00000395538.3_Missense_Mutation_p.A25T|ASPN_ENST00000450139.2_5'UTR|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	25					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCTTCAGTGCGATGTGTGAA	0.423													10	36					0	0	0	0	T	95237107	C	T	95237107	3	4	408	1	0	0	0	0	1	0	0	0	1061	768	27	1	1097	1	ASPN	9	95237107	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	59478	95237107	45976324	1902	79720											
BICD2	23299	broad.mit.edu	37	chr9	95527004	95527004	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagccgcgcgtactccTcctcctccgacggcgccgac	5	6	9	21	7	1	0	1	0	0	0	5	2	5	0	7	1	2	1	7	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95527004T>A	ENST00000356884.6	-	1	90	c.23A>T	c.(22-24)gAg>gTg	p.E8V	BICD2_ENST00000375512.3_Missense_Mutation_p.E8V	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	8					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGCGTACTCCTCCTCCTCCGA	0.741													4	15					0	0	0	0	A	95527004	T	A	95527004	3	1	408	1	0	0	0	0	1	0	0	0	1434	1551	54	5	2582	5	BICD2	9	95527004	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	289897	95527004	45686427	1903	79721											
FGD3	89846	broad.mit.edu	37	chr9	95738900	95738900	+	Frame_Shift_Del	DEL	C	C	-																															cagccaggtcccgaaggtcaCcccccaggaggaggcggaca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95738900delC	ENST00000375482.3	+	3	858	c.362delC	c.(361-363)acfs	p.T121fs	FGD3_ENST00000416701.2_Frame_Shift_Del_p.T121fs|FGD3_ENST00000337352.6_Frame_Shift_Del_p.T121fs|FGD3_ENST00000468206.1_3'UTR	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	121					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.Q123fs*10(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCGAAGGTCACCCCCCAGGAG	0.662													18	45	---	---	---	---					-	95738900	C	-	95738900	7	5	408	1	0	1	0	1	0	0	0	0	5879	507	18	0	364	0	FGD3	9	95738900	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	211896	95738900	45474531	1904	79722											
WNK2	65268	broad.mit.edu	37	chr9	96024279	96024279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcctctgtgcagagtgtgCccacccagactgccacactt	7	9	9	16	0	1	2	0	0	1	2	1	2	1	2	4	0	4	1	4	0	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96024279C>T	ENST00000297954.4	+	12	3250	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	WNK2_ENST00000349097.3_Missense_Mutation_p.P696S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P696S|WNK2_ENST00000395477.2_Missense_Mutation_p.P1084S|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1084					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCAGAGTGTGCCCACCCAGAC	0.687													4	35					0	0	0	0	T	96024279	C	T	96024279	3	4	408	1	0	0	0	0	1	0	0	0	17474	739	26	4	3296	4	WNK2	9	96024279	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	285379	96024279	45189152	1905	79723											
WNK2	65268	broad.mit.edu	37	chr9	96069102	96069102	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaggcaaagaacacagcagTagtaattatccgggtttttt	13	12	9	7	1	0	1	0	0	0	1	1	1	1	1	1	2	2	5	1	2	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96069102T>C	ENST00000297954.4	+	27	6369	c.6370_splice	c.e27+1	p.S2123_splice	WNK2_ENST00000349097.3_Splice_Site_p.S1735_splice|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000427277.2_Splice_Site_p.S1698_splice|WNK2_ENST00000395477.2_Splice_Site_p.S2086_splice|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2123					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AACACAGCAGTAGTAATTATC	0.567													5	303					0	0	0	0	C	96069102	T	C	96069102	5	2	408	1	0	0	0	0	0	0	1	0	17474	1652	57	5	6360	5	WNK2	9	96069102	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	44823	96069102	45144329	1906	79724											
FAM120A	23196	broad.mit.edu	37	chr9	96326712	96326712	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctgaaagtgccttgaatAatgactctaaaacgtgcaat	15	11	7	8	1	2	3	0	3	2	0	2	3	2	3	1	0	3	1	1	0	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96326712A>T	ENST00000277165.6	+	18	3441	c.3247A>T	c.(3247-3249)Aat>Tat	p.N1083Y	FAM120A_ENST00000333936.5_Missense_Mutation_p.N1111Y|FAM120A_ENST00000340893.4_Missense_Mutation_p.N1037Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1083	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCTTGAATAATGACTCTAA	0.527													34	114					0	0	0	0	T	96326712	A	T	96326712	3	4	408	1	0	0	0	0	1	0	0	0	5456	362	13	5	3317	5	FAM120A	9	96326712	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	257610	96326712	44886719	1907	79725											
PHF2	5253	broad.mit.edu	37	chr9	96339120	96339120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttacccgcttcatgatcgAgtgcgacgcctgcaaggact	8	9	11	13	5	1	1	1	1	0	0	2	4	1	2	2	1	3	3	2	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96339120A>G	ENST00000359246.4	+	1	432	c.65A>G	c.(64-66)gAg>gGg	p.E22G	PHF2_ENST00000375376.4_Missense_Mutation_p.E22G	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	22				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TTCATGATCGAGTGCGACGCC	0.756													8	14					0	0	0	0	G	96339120	A	G	96339120	3	3	408	1	0	0	0	0	1	0	0	0	11902	304	11	5	67	5	PHF2	9	96339120	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	12408	96339120	44874311	1908	79726											
PHF2	5253	broad.mit.edu	37	chr9	96437210	96437210	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctctgcctccctctagtTtacccctcactggagtcaga	6	12	6	17	0	4	1	2	0	2	1	6	2	6	2	5	1	2	1	5	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96437210T>C	ENST00000359246.4	+	19	2995	c.2626_splice	c.e19-1	p.V876_splice	PHF2_ENST00000375376.4_Splice_Site_p.V107_splice	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	876					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCCCTCTAGTTTACCCCTCAC	0.612													24	79					0	0	0	0	C	96437210	T	C	96437210	5	2	408	1	0	0	0	0	0	0	1	0	11902	1855	64	5	2702	5	PHF2	9	96437210	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	98090	96437210	44776221	1909	79727											
CORO2A	7464	broad.mit.edu	37	chr9	100893279	100893279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtccgcgtcatagaaGggaaacagcacgcccgagga	11	5	14	11	4	1	1	1	0	0	1	2	4	2	3	2	3	2	1	2	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:100893279G>A	ENST00000343933.5	-	7	1085	c.828C>T	c.(826-828)ccC>ccT	p.P276P	CORO2A_ENST00000375077.4_Silent_p.P276P	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	276					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CGTCATAGAAGGGAAACAGCA	0.642													5	43					0	0	0	0	A	100893279	G	A	100893279	2	1	408	1	0	0	0	0	0	0	0	1	3786	987	35	4		4	CORO2A	9	100893279	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4456069	100893279	40320152	1910	79728											
TBC1D2	55357	broad.mit.edu	37	chr9	100971111	100971111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggcgggcagcagggtgCtcgcgggcctggccccggct	3	6	18	14	4	1	0	0	0	1	0	2	0	1	0	3	6	2	4	3	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:100971111C>T	ENST00000375066.5	-	9	2080	c.1989G>A	c.(1987-1989)gaG>gaA	p.E663E	TBC1D2_ENST00000375064.1_Silent_p.E663E|TBC1D2_ENST00000342112.5_Silent_p.E445E|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.E203E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	663	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGCAGGGTGCTCGCGGGCCT	0.662													16	77					0	0	0	0	T	100971111	C	T	100971111	2	4	408	1	0	0	0	0	0	0	0	1	15699	796	28	4		4	TBC1D2	9	100971111	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	77832	100971111	40242320	1911	79729											
COL15A1	1306	broad.mit.edu	37	chr9	101749621	101749621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccgaccccaggactcccGaggagctgtgtgaccctgaa	9	5	11	16	2	0	2	0	2	0	0	1	6	1	4	6	2	1	1	6	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:101749621G>A	ENST00000375001.3	+	4	1117	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	232	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGGACTCCCGAGGAGCTGTG	0.647													55	170					0	0	0	0	A	101749621	G	A	101749621	3	1	408	1	0	0	0	0	1	0	0	0	3702	1059	37	1	708	1	COL15A1	9	101749621	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	778510	101749621	39463810	1912	79730											
NR4A3	8013	broad.mit.edu	37	chr9	102590878	102590878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggtccccacggtggccgGcgcgcgcttcccgctcttcc	1	7	14	19	7	1	0	0	0	1	0	4	0	4	0	5	5	0	2	5	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:102590878G>A	ENST00000330847.1	+	2	631	c.587G>A	c.(586-588)gGc>gAc	p.G196D	NR4A3_ENST00000395097.2_Missense_Mutation_p.G185D|NR4A3_ENST00000338488.4_Missense_Mutation_p.G185D			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	185					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ACGGTGGCCGGCGCGCGCTTC	0.776			T	EWSR1	extraskeletal myxoid chondrosarcoma								5	5					0	0	0	0	A	102590878	G	A	102590878	3	1	408	1	0	0	0	0	1	0	0	0	10705	1203	42	4	593	4	NR4A3	9	102590878	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	841257	102590878	38622553	1913	79731											
MRPL50	54534	broad.mit.edu	37	chr9	104152834	104152834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctatcttgaatagggacatTatagaaatcaagaacatctc	16	12	6	7	0	4	3	1	1	3	2	5	4	4	4	0	1	1	0	0	1	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:104152834T>C	ENST00000374865.4	-	2	412	c.391A>G	c.(391-393)Aat>Gat	p.N131D	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	131						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATAGGGACATTATAGAAATCA	0.413													35	63					0	0	0	0	C	104152834	T	C	104152834	3	2	408	1	0	0	0	0	1	0	0	0	9884	1754	61	5	89	5	MRPL50	9	104152834	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1561956	104152834	37060597	1914	79732											
GRIN3A	116443	broad.mit.edu	37	chr9	104335655	104335655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggagctctcttctccttGgagggagggggatgtcctgg	5	10	17	9	0	2	0	0	0	2	0	5	4	3	4	2	6	1	1	2	6	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:104335655G>A	ENST00000361820.3	-	9	3749	c.3149C>T	c.(3148-3150)cCa>cTa	p.P1050L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1050					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCTTCTCCTTGGAGGGAGGGG	0.527													32	112					0	0	0	0	A	104335655	G	A	104335655	3	1	408	1	0	0	0	0	1	0	0	0	6833	1348	47	4	202	4	GRIN3A	9	104335655	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	182821	104335655	36877776	1915	79733											
GRIN3A	116443	broad.mit.edu	37	chr9	104341488	104341488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcactcacctggctggtgTggagccagtattgcagcttg	6	11	14	10	0	1	0	1	0	0	0	1	1	1	1	2	4	3	5	2	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:104341488T>C	ENST00000361820.3	-	7	3521	c.2921A>G	c.(2920-2922)cAc>cGc	p.H974R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	974	PPP2CB binding site (By similarity).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGGCTGGTGTGGAGCCAGTA	0.473													22	73					0	0	0	0	C	104341488	T	C	104341488	3	2	408	1	0	0	0	0	1	0	0	0	6833	1696	59	5	438	5	GRIN3A	9	104341488	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5833	104341488	36871943	1916	79734											
SMC2	10592	broad.mit.edu	37	chr9	106876294	106876294	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaggcagctgtctcgtgaTattggtagattgaaagaaac	12	10	12	7	2	1	4	0	2	1	2	2	4	1	4	0	2	2	4	0	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:106876294T>C	ENST00000286398.7	+	12	1752	c.1464T>C	c.(1462-1464)gaT>gaC	p.D488D	SMC2_ENST00000374787.3_Silent_p.D488D|SMC2_ENST00000374793.3_Silent_p.D488D|SMC2_ENST00000303219.8_Silent_p.D488D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	488					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTCTCGTGATATTGGTAGAT	0.338													4	229					0	0	0	0	C	106876294	T	C	106876294	2	2	408	1	0	0	0	0	0	0	0	1	14871	1403	49	5		5	SMC2	9	106876294	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2534806	106876294	34337137	1917	79735											
OR13F1	138805	broad.mit.edu	37	chr9	107267222	107267222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcctcgccagtatcctgAgaatcagctcagtggaaggt	10	11	10	10	1	2	1	2	1	0	1	5	3	4	2	3	2	1	2	3	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:107267222A>G	ENST00000334726.2	+	1	768	c.679A>G	c.(679-681)Aga>Gga	p.R227G		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTATCCTGAGAATCAGCTC	0.478													4	186					0	0	0	0	G	107267222	A	G	107267222	3	3	408	1	0	0	0	0	1	0	0	0	11012	296	11	5	681	5	OR13F1	9	107267222	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	390928	107267222	33946209	1918	79736											
OR13D1	286365	broad.mit.edu	37	chr9	107457096	107457096	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcattggctgtgctctgCagatggttgtgtcccttggc	3	15	12	11	0	2	1	1	0	1	1	3	1	3	1	2	3	2	4	2	3	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:107457096C>T	ENST00000318763.5	+	1	437	c.394C>T	c.(394-396)Cag>Tag	p.Q132*		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTGTGCTCTGCAGATGGTTGT	0.483													8	254					0	0	0	0	T	107457096	C	T	107457096	4	4	408	1	0	0	0	0	0	1	0	0	11011	711	25	4	396	4	OR13D1	9	107457096	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	189874	107457096	33756335	1919	79737											
ABCA1	19	broad.mit.edu	37	chr9	107583768	107583768	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcccgaggtcggggggaAcaacccggtcaggattgacc	8	5	17	11	3	1	1	1	1	0	0	2	4	1	3	3	7	3	0	3	7	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:107583768A>G	ENST00000374736.3	-	20	3242	c.2848T>C	c.(2848-2850)Ttc>Ctc	p.F950L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	950	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCGGGGGGAACAACCCGGTC	0.532													6	53					0	0	0	0	G	107583768	A	G	107583768	3	3	408	1	0	0	0	0	1	0	0	0	28	43	2	5	4061	5	ABCA1	9	107583768	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	126672	107583768	33629663	1920	79738											
ABCA1	19	broad.mit.edu	37	chr9	107594013	107594013	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaattccagtgaacacaatAccagcccagaacttcctctc	13	9	5	14	0	1	2	0	1	1	1	4	2	3	2	4	0	4	1	4	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:107594013A>G	ENST00000374736.3	-	13	1999	c.1605T>C	c.(1603-1605)ggT>ggC	p.G535G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	535					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGAACACAATACCAGCCCAGA	0.463													27	88					0	0	0	0	G	107594013	A	G	107594013	2	3	408	1	0	0	0	0	0	0	0	1	28	378	14	5		5	ABCA1	9	107594013	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	10245	107594013	33619418	1921	79739											
SLC44A1	23446	broad.mit.edu	37	chr9	108123609	108123609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcagctacagtgttcAcagtgagtttaggctttggc	8	14	10	9	0	2	1	2	1	0	0	2	1	2	1	1	2	2	4	1	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:108123609A>G	ENST00000374720.3	+	8	1145	c.898A>G	c.(898-900)Aca>Gca	p.T300A	SLC44A1_ENST00000343170.7_Missense_Mutation_p.T92A|SLC44A1_ENST00000374724.1_Missense_Mutation_p.T300A|SLC44A1_ENST00000374723.1_Missense_Mutation_p.T300A	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	300						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TACAGTGTTCACAGTGAGTTT	0.428													30	101					0	0	0	0	G	108123609	A	G	108123609	3	3	408	1	0	0	0	0	1	0	0	0	14723	159	6	5	928	5	SLC44A1	9	108123609	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	529596	108123609	33089822	1922	79740											
FKTN	2218	broad.mit.edu	37	chr9	108382270	108382270	+	Frame_Shift_Del	DEL	T	T	-																															agatgatgtaaaacttgatgTttttttcttctatgaagaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:108382270delT	ENST00000223528.2	+	9	1224	c.1100delT	c.(1099-1101)gtfs	p.V367fs	FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	367					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAACTTGATGTTTTTTTCTTC	0.348													12	36	---	---	---	---					-	108382270	T	-	108382270	7	5	408	1	0	1	0	1	0	0	0	0	5964	1725	60	0	1130	0	FKTN	9	108382270	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	258661	108382270	32831161	1923	79741											
RAD23B	5887	broad.mit.edu	37	chr9	110087223	110087223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggaggaattgcagaaGctggaagtggtcatatgaac	13	8	15	5	0	1	2	1	1	0	1	1	5	1	5	0	4	3	3	0	4	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:110087223G>A	ENST00000358015.3	+	9	1405	c.1054G>A	c.(1054-1056)Gct>Act	p.A352T	RAD23B_ENST00000416373.2_Missense_Mutation_p.A280T	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	352					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTGCAGAAGCTGGAAGTGG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)					6	69					0	0	0	0	A	110087223	G	A	110087223	3	1	408	1	0	0	0	0	1	0	0	0	13065	971	34	4	1088	4	RAD23B	9	110087223	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1704953	110087223	31126208	1924	79742											
ACTL7A	10881	broad.mit.edu	37	chr9	111625709	111625709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacgatgctcagtggCttccctaaccgtctgcagaa	9	8	11	13	2	2	1	1	0	1	1	3	2	3	1	2	2	4	5	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:111625709C>T	ENST00000333999.3	+	1	1107	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	369						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTCAGTGGCTTCCCTAACC	0.582													6	105					0	0	0	0	T	111625709	C	T	111625709	2	4	408	1	0	0	0	0	0	0	0	1	200	784	28	4		4	ACTL7A	9	111625709	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1538486	111625709	29587722	1925	79743											
IKBKAP	8518	broad.mit.edu	37	chr9	111679848	111679848	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctcatctttaaggaaGggaagtgtaaagtgtccatg	13	12	10	6	0	2	0	1	0	1	0	3	2	3	2	2	2	1	1	2	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:111679848G>T	ENST00000374647.5	-	9	1150	c.843C>A	c.(841-843)ccC>ccA	p.P281P	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	281					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTTAAGGAAGGGAAGTGTAA	0.378													27	86					6.36457e-07	6.52959e-07	1	0	T	111679848	G	T	111679848	2	4	408	1	0	0	0	0	0	0	0	1	7663	987	35	4		4	IKBKAP	9	111679848	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	54139	111679848	29533583	1926	79744											
PTPN3	5774	broad.mit.edu	37	chr9	112189315	112189315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctttgcctgaaagaacgTatggtgctcaacacaggatt	11	12	9	9	1	2	2	1	1	1	1	2	3	2	3	1	2	4	2	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:112189315T>C	ENST00000412145.1	-	7	3076	c.523A>G	c.(523-525)Acg>Gcg	p.T175A	PTPN3_ENST00000374541.2_Missense_Mutation_p.T306A|PTPN3_ENST00000262539.3_Missense_Mutation_p.T197A|PTPN3_ENST00000446349.1_Missense_Mutation_p.T175A	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	306	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGAAAGAACGTATGGTGCTCA	0.443													33	76					0	0	0	0	C	112189315	T	C	112189315	3	2	408	1	0	0	0	0	1	0	0	0	12871	1638	57	5	1885	5	PTPN3	9	112189315	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	509467	112189315	29024116	1927	79745											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900744	112900744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagaggcagagacaagtcTtgcagagtacgcagagcccc	13	5	13	10	1	1	5	0	1	1	4	1	6	1	5	2	1	3	4	2	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:112900744T>C	ENST00000374530.3	+	8	3100	c.2920T>C	c.(2920-2922)Ttg>Ctg	p.L974L	AKAP2_ENST00000555236.1_Silent_p.L974L|AKAP2_ENST00000434623.2_Silent_p.L832L|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Silent_p.L832L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L974L|AKAP2_ENST00000510514.5_Silent_p.L974L|AKAP2_ENST00000259318.7_Silent_p.L743L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		743							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAGACAAGTCTTGCAGAGTAC	0.532													4	74					0	0	0	0	C	112900744	T	C	112900744	2	2	408	1	0	0	0	0	0	0	0	1	11481	1606	56	5		5	PALM2-AKAP2	9	112900744	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	711429	112900744	28312687	1928	79746											
TXN	7295	broad.mit.edu	37	chr9	113006438	113006438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattttcagaaaacatgatTagactaattcattaatggtg	16	15	6	4	0	2	3	2	1	0	2	2	3	2	3	0	1	1	0	0	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:113006438T>C	ENST00000374517.5	-	5	521	c.317A>G	c.(316-318)tAa>tGa	p.*106*	TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Silent_p.*86*	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	0					cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		AAAACATGATTAGACTAATTC	0.308													4	19					0	0	0	0	C	113006438	T	C	113006438	2	2	408	1	0	0	0	0	0	0	0	1	16886	1761	61	5		5	TXN	9	113006438	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	105694	113006438	28206993	1929	79747											
SVEP1	79987	broad.mit.edu	37	chr9	113189972	113189972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacagaagacgaggtgAcaggcaggtggcgctctgtc	9	7	14	11	2	2	3	0	1	2	2	4	4	2	3	1	4	0	2	1	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:113189972A>G	ENST00000401783.2	-	36	6210	c.5874T>C	c.(5872-5874)tgT>tgC	p.C1958C	SVEP1_ENST00000374469.1_Silent_p.C1935C|SVEP1_ENST00000297826.5_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1958	Sushi 9.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGACGAGGTGACAGGCAGGTG	0.498											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	108					0	0	0	0	G	113189972	A	G	113189972	2	3	408	1	0	0	0	0	0	0	0	1	15510	273	10	5		5	SVEP1	9	113189972	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	183534	113189972	28023459	1930	79748											
OR2K2	26248	broad.mit.edu	37	chr9	114089977	114089977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccataatacaaaatcaccAcagtcaaatgggcaccacag	17	5	5	14	0	2	0	2	0	0	0	2	0	2	0	4	1	1	1	4	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:114089977A>G	ENST00000374428.1	-	1	823	c.824T>C	c.(823-825)gTg>gCg	p.V275A	OR2K2_ENST00000302681.1_Missense_Mutation_p.V246A			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAAAATCACCACAGTCAAATG	0.418													20	58					0	0	0	0	G	114089977	A	G	114089977	3	3	408	1	0	0	0	0	1	0	0	0	11076	159	6	5	216	5	OR2K2	9	114089977	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	900005	114089977	27123454	1931	79749											
KIAA0368	23392	broad.mit.edu	37	chr9	114174334	114174334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttataagctgttctatcattGatttcaactcattccccgac	10	16	4	11	1	4	1	3	1	1	0	5	2	5	1	2	0	2	2	2	0	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:114174334G>A	ENST00000259335.4	-	22	2707	c.2708C>T	c.(2707-2709)tCa>tTa	p.S903L	KIAA0368_ENST00000338205.5_Missense_Mutation_p.S725L	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTCTATCATTGATTTCAACTC	0.358													3	21					0	0	0	0	A	114174334	G	A	114174334	3	1	408	1	0	0	0	0	1	0	0	0	8222	1294	45	2	3465	2	KIAA0368	9	114174334	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	84357	114174334	27039097	1932	79750											
KIAA1958	158405	broad.mit.edu	37	chr9	115422041	115422041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccaccagagtgtgtcacGggaagatctaccatgagcat	11	8	11	11	1	2	3	1	1	1	2	3	4	3	4	3	1	2	2	3	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:115422041G>A	ENST00000337530.6	+	4	2139	c.1843G>A	c.(1843-1845)Ggg>Agg	p.G615R	KIAA1958_ENST00000536272.1_Missense_Mutation_p.G643R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	615										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTGTGTCACGGGAAGATCTA	0.587													15	41					0	0	0	0	A	115422041	G	A	115422041	3	1	408	1	0	0	0	0	1	0	0	0	8315	1116	39	1	1853	1	KIAA1958	9	115422041	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1247707	115422041	25791390	1933	79751											
RGS3	5998	broad.mit.edu	37	chr9	116276863	116276863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggttgtgaggccgcatGccacgcactcaagctatggc	7	7	13	14	3	1	1	1	1	0	0	1	1	1	1	3	3	2	4	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:116276863G>A	ENST00000374140.2	+	16	1812	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	RGS3_ENST00000350696.5_Missense_Mutation_p.A535T|RGS3_ENST00000374136.1_Missense_Mutation_p.A161T|RGS3_ENST00000394646.3_Missense_Mutation_p.A254T|RGS3_ENST00000343817.5_Missense_Mutation_p.A254T|RGS3_ENST00000317613.6_Missense_Mutation_p.A423T	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	535					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGGCCGCATGCCACGCACTC	0.587													32	102					0	0	0	0	A	116276863	G	A	116276863	3	1	408	1	0	0	0	0	1	0	0	0	13389	1319	46	4	1802	4	RGS3	9	116276863	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	854822	116276863	24936568	1934	79752											
RGS3	5998	broad.mit.edu	37	chr9	116299133	116299133	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagaagaagagagtgTgctggtgcctgtcggagaac	12	6	17	6	1	0	4	0	0	0	4	1	7	0	5	1	3	4	2	1	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:116299133T>C	ENST00000374140.2	+	20	2181	c.1972T>C	c.(1972-1974)Tgc>Cgc	p.C658R	RGS3_ENST00000350696.5_Missense_Mutation_p.C658R|RGS3_ENST00000374136.1_Missense_Mutation_p.C284R|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000394646.3_Missense_Mutation_p.C377R|RGS3_ENST00000343817.5_Missense_Mutation_p.C377R|RGS3_ENST00000317613.6_Missense_Mutation_p.C546R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	658					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGAGAGTGTGCTGGTGCCT	0.582													8	157					0	0	0	0	C	116299133	T	C	116299133	3	2	408	1	0	0	0	0	1	0	0	0	13389	1696	59	5	2187	5	RGS3	9	116299133	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	22270	116299133	24914298	1935	79753											
COL27A1	85301	broad.mit.edu	37	chr9	116931125	116931125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcccatccagaggaacccGggaatgcccaggcccccacc	11	2	10	18	1	0	1	0	0	0	1	1	3	1	3	7	3	3	0	7	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:116931125G>A	ENST00000356083.3	+	3	1681	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	430	Pro-rich.				cell adhesion		extracellular matrix structural constituent	p.P430P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGAACCCGGGAATGCCCA	0.617													124	290					0	0	0	0	A	116931125	G	A	116931125	2	1	408	1	0	0	0	0	0	0	0	1	3715	1103	39	1		1	COL27A1	9	116931125	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	631992	116931125	24282306	1936	79754											
AKNA	80709	broad.mit.edu	37	chr9	117124719	117124719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcttccaggcgtccccttgGagccggcaagcggctgggca	6	7	14	14	3	1	0	0	0	1	0	3	1	3	1	4	5	2	3	4	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:117124719G>T	ENST00000307564.4	-	8	2044	c.1883C>A	c.(1882-1884)tCc>tAc	p.S628Y	AKNA_ENST00000223791.3_Missense_Mutation_p.S88Y|AKNA_ENST00000374075.5_Missense_Mutation_p.S547Y|AKNA_ENST00000374088.3_Missense_Mutation_p.S628Y|AKNA_ENST00000312033.3_Missense_Mutation_p.S628Y	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGTCCCCTTGGAGCCGGCAAG	0.647													8	23					0.000274275	0.00027791	1	0	T	117124719	G	T	117124719	3	4	408	1	0	0	0	0	1	0	0	0	463	1174	41	2	2496	2	AKNA	9	117124719	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	193594	117124719	24088712	1937	79755											
DFNB31	25861	broad.mit.edu	37	chr9	117266652	117266652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgggccttggcacgccGcaaactcaccaggcgcacct	7	6	11	17	4	1	0	1	0	0	0	2	0	1	0	4	3	1	3	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:117266652G>A	ENST00000362057.3	-	1	598	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	DFNB31_ENST00000374057.3_Missense_Mutation_p.R144W	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	144	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGGCACGCCGCAAACTCACC	0.721													22	63					0	0	0	0	A	117266652	G	A	117266652	3	1	408	1	0	0	0	0	1	0	0	0	4492	1086	38	1	2341	1	DFNB31	9	117266652	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	141933	117266652	23946779	1938	79756											
TNC	3371	broad.mit.edu	37	chr9	117822164	117822164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcctccactttgttgAcctcctgcacctgaatgaca	7	11	9	14	0	0	3	0	3	0	0	2	3	2	3	5	1	2	3	5	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:117822164A>G	ENST00000350763.4	-	14	4562	c.4151T>C	c.(4150-4152)gTc>gCc	p.V1384A	TNC_ENST00000341037.4_Missense_Mutation_p.V1293A|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.V1384A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1384	Fibronectin type-III 9.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACTTTGTTGACCTCCTGCAC	0.582													43	66					0	0	0	0	G	117822164	A	G	117822164	3	3	408	1	0	0	0	0	1	0	0	0	16364	275	10	5	2514	5	TNC	9	117822164	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	555512	117822164	23391267	1939	79757											
TNC	3371	broad.mit.edu	37	chr9	117849399	117849399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtcgtcacagatgcacTgcccatcaatgcaccggcct	9	7	9	16	3	2	1	2	0	0	1	3	1	2	1	4	1	4	2	4	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:117849399T>C	ENST00000350763.4	-	3	1022	c.611A>G	c.(610-612)cAg>cGg	p.Q204R	TNC_ENST00000341037.4_Missense_Mutation_p.Q204R|TNC_ENST00000542877.1_Missense_Mutation_p.Q204R|TNC_ENST00000340094.3_Missense_Mutation_p.Q204R|TNC_ENST00000345230.3_Missense_Mutation_p.Q204R|TNC_ENST00000537320.1_Missense_Mutation_p.Q204R|TNC_ENST00000535648.1_Missense_Mutation_p.Q204R|TNC_ENST00000346706.3_Missense_Mutation_p.Q204R|TNC_ENST00000423613.2_Missense_Mutation_p.Q204R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	204	EGF-like 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGATGCACTGCCCATCAAT	0.607													38	108					0	0	0	0	C	117849399	T	C	117849399	3	2	408	1	0	0	0	0	1	0	0	0	16364	1580	55	5	6098	5	TNC	9	117849399	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	27235	117849399	23364032	1940	79758											
PAPPA	5069	broad.mit.edu	37	chr9	118949746	118949746	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcatgttagggggcagTgccctgaatcacaactaccg	9	9	12	11	1	2	1	2	1	0	0	2	1	2	1	2	2	4	3	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:118949746T>C	ENST00000328252.3	+	2	1098	c.729T>C	c.(727-729)agT>agC	p.S243S		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	243					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGGGGGCAGTGCCCTGAATC	0.562													4	149					0	0	0	0	C	118949746	T	C	118949746	2	2	408	1	0	0	0	0	0	0	0	1	11503	1693	59	5		5	PAPPA	9	118949746	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1100347	118949746	22263685	1941	79759											
TRIM32	22954	broad.mit.edu	37	chr9	119461806	119461806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcgtggctgacagtagTcgcaaggaaattctccattt	10	12	9	10	2	2	1	1	1	1	0	5	2	2	2	1	2	0	3	1	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:119461806T>C	ENST00000450136.1	+	2	1946	c.1785T>C	c.(1783-1785)agT>agC	p.S595S	ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Silent_p.S595S|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	595					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGACAGTAGTCGCAAGGAAA	0.527													18	60					0	0	0	0	C	119461806	T	C	119461806	2	2	408	1	0	0	0	0	0	0	0	1	16601	1664	58	5		5	TRIM32	9	119461806	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	512060	119461806	21751625	1942	79760											
TLR4	7099	broad.mit.edu	37	chr9	120474737	120474737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctaccttaatattgacaGgaaaccccatccagagttta	13	12	5	11	0	1	2	0	1	1	1	3	3	2	3	4	1	2	1	4	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:120474737G>A	ENST00000355622.6	+	3	432	c.331G>A	c.(331-333)Gga>Aga	p.G111R	TLR4_ENST00000394487.4_Missense_Mutation_p.G71R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	111					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.G111*(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						AATATTGACAGGAAACCCCAT	0.428													14	45					0	0	0	0	A	120474737	G	A	120474737	3	1	408	1	0	0	0	0	1	0	0	0	16047	1001	35	4	341	4	TLR4	9	120474737	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1012931	120474737	20738694	1943	79761											
TLR4	7099	broad.mit.edu	37	chr9	120476615	120476615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgaaaggtgattgttgtgGtgtcccagcacttcatccag	8	11	12	10	1	1	1	1	1	0	0	3	2	3	1	3	2	1	2	3	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:120476615G>A	ENST00000355622.6	+	3	2310	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	TLR4_ENST00000394487.4_Missense_Mutation_p.V697M|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	737	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GATTGTTGTGGTGTCCCAGCA	0.478													16	65					0	0	0	0	A	120476615	G	A	120476615	3	1	408	1	0	0	0	0	1	0	0	0	16047	1261	44	4	2219	4	TLR4	9	120476615	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1878	120476615	20736816	1944	79762											
MEGF9	1955	broad.mit.edu	37	chr9	123367647	123367647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagggggcattgagtttccGgttttggtactcgcggtaca	8	12	14	7	3	0	1	0	1	0	0	2	1	1	1	1	5	2	5	1	5	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:123367647G>A	ENST00000373930.3	-	6	1741	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MEGF9_ENST00000426959.1_Missense_Mutation_p.R581W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	544						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TTGAGTTTCCGGTTTTGGTAC	0.443													38	135					0	0	0	0	A	123367647	G	A	123367647	3	1	408	1	0	0	0	0	1	0	0	0	9533	1115	39	1	182	1	MEGF9	9	123367647	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2891032	123367647	17845784	1945	79763											
OR1L4	254973	broad.mit.edu	37	chr9	125486951	125486951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcgtcactgtgctcaGaatcccctctgcagccggga	9	9	9	14	2	4	1	3	0	1	1	6	2	5	2	3	1	3	2	3	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125486951G>T	ENST00000259466.1	+	1	683	c.683G>T	c.(682-684)aGa>aTa	p.R228I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACTGTGCTCAGAATCCCCTCT	0.517													57	408					8.72158e-25	9.23113e-25	1	0	T	125486951	G	T	125486951	3	4	408	1	0	0	0	0	1	0	0	0	11036	942	33	2	685	2	OR1L4	9	125486951	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2119304	125486951	15726480	1946	79764											
OR1L6	392390	broad.mit.edu	37	chr9	125512809	125512809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatggtcactgtgctcaGaatcccctctgcagccggga	9	9	10	13	1	4	1	3	0	1	1	5	2	5	2	3	2	3	2	3	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125512809G>T	ENST00000373684.1	+	1	791	c.791G>T	c.(790-792)aGa>aTa	p.R264I	OR1L6_ENST00000304720.2_Missense_Mutation_p.R228I			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						ACTGTGCTCAGAATCCCCTCT	0.502													16	30					6.44725e-10	6.67513e-10	1	0	T	125512809	G	T	125512809	3	4	408	1	0	0	0	0	1	0	0	0	11037	942	33	2	685	2	OR1L6	9	125512809	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	25858	125512809	15700622	1947	79765											
ZBTB6	10773	broad.mit.edu	37	chr9	125673354	125673354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcttctgtgtaaatgttTttccgcactgtaagcataag	9	18	7	7	1	2	0	0	0	2	0	3	0	3	0	1	0	1	5	1	0	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125673354T>C	ENST00000373659.3	-	2	1086	c.998A>G	c.(997-999)aAa>aGa	p.K333R		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TGTAAATGTTTTTCCGCACTG	0.448													5	116					0	0	0	0	C	125673354	T	C	125673354	3	2	408	1	0	0	0	0	1	0	0	0	17647	1841	64	5	280	5	ZBTB6	9	125673354	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	160545	125673354	15540077	1948	79766											
ZBTB26	57684	broad.mit.edu	37	chr9	125681684	125681684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaatctgaatatcactgTcctccatatccatactgtct	12	14	3	12	0	3	1	1	1	2	0	6	1	6	1	3	0	2	0	3	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125681684T>C	ENST00000373656.3	-	2	603	c.530A>G	c.(529-531)gAc>gGc	p.D177G	ZBTB26_ENST00000373654.1_Missense_Mutation_p.D177G	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AATATCACTGTCCTCCATATC	0.433													27	89					0	0	0	0	C	125681684	T	C	125681684	3	2	408	1	0	0	0	0	1	0	0	0	17628	1667	58	5	799	5	ZBTB26	9	125681684	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	8330	125681684	15531747	1949	79767											
ZBTB26	57684	broad.mit.edu	37	chr9	125682060	125682060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagaagggggaacctgcagCaaacacaattttatgtccct	14	9	9	9	0	0	1	0	0	0	1	1	2	1	2	2	2	4	2	2	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125682060C>T	ENST00000373656.3	-	2	227	c.154G>A	c.(154-156)Gct>Act	p.A52T	ZBTB26_ENST00000373654.1_Missense_Mutation_p.A52T	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	52	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GAACCTGCAGCAAACACAATT	0.353													9	28					0	0	0	0	T	125682060	C	T	125682060	3	4	408	1	0	0	0	0	1	0	0	0	17628	710	25	4	1175	4	ZBTB26	9	125682060	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	376	125682060	15531371	1950	79768											
STRBP	55342	broad.mit.edu	37	chr9	125890530	125890530	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtaaccatatggtgtTccatagcctagtgcaaagaa	12	11	10	8	0	0	1	0	0	0	1	1	1	1	1	3	1	4	4	3	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125890530T>A	ENST00000447404.2	-	17	2209	c.1905A>T	c.(1903-1905)ggA>ggT	p.G635G	STRBP_ENST00000360998.3_Silent_p.G621G|STRBP_ENST00000348403.5_Silent_p.G635G			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	635					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CATATGGTGTTCCATAGCCTA	0.512													17	49					0	0	0	0	A	125890530	T	A	125890530	2	1	408	1	0	0	0	0	0	0	0	1	15417	1770	62	5		5	STRBP	9	125890530	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	208470	125890530	15322901	1951	79769											
CRB2	286204	broad.mit.edu	37	chr9	126133465	126133465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccgcactcgggagtccGctggcctgttgctccagttt	3	13	11	14	3	1	0	0	0	1	0	5	1	3	1	4	2	1	5	4	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:126133465G>A	ENST00000373631.3	+	8	2045	c.2044G>A	c.(2044-2046)Gct>Act	p.A682T	CRB2_ENST00000359999.3_Missense_Mutation_p.A682T|CRB2_ENST00000373629.2_Missense_Mutation_p.A350T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	682	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCGGGAGTCCGCTGGCCTGTT	0.612													72	231					0	0	0	0	A	126133465	G	A	126133465	3	1	408	1	0	0	0	0	1	0	0	0	3879	1087	38	1	2074	1	CRB2	9	126133465	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	242935	126133465	15079966	1952	79770											
HSPA5	3309	broad.mit.edu	37	chr9	127999357	127999357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgacttcaatctgtgggacCccacgaggagcaggaggaat	11	7	14	9	1	2	1	1	1	1	0	2	6	2	5	2	4	1	1	2	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:127999357C>T	ENST00000324460.6	-	8	1682	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	493					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCTGTGGGACCCCACGAGGAG	0.423										Prostate(1;0.17)			22	67					0	0	0	0	T	127999357	C	T	127999357	2	4	408	1	0	0	0	0	0	0	0	1	7466	610	22	4		4	HSPA5	9	127999357	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1865892	127999357	13214074	1953	79771											
GARNL3	84253	broad.mit.edu	37	chr9	130151298	130151298	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcaccccacccactccCatcagtgtgggccttgctgc	6	9	8	18	0	3	0	3	0	0	0	4	0	4	0	5	1	2	1	5	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:130151298C>A	ENST00000373387.4	+	26	2995	c.2643C>A	c.(2641-2643)ccC>ccA	p.P881P	GARNL3_ENST00000435213.2_Silent_p.P859P|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	881					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CACCCACTCCCATCAGTGTGG	0.527													30	76					2.65835e-16	2.79074e-16	1	0	A	130151298	C	A	130151298	2	1	408	1	0	0	0	0	0	0	0	1	6290	581	21	4		4	GARNL3	9	130151298	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2151941	130151298	11062133	1954	79772											
ZNF79	7633	broad.mit.edu	37	chr9	130206653	130206653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctatgagtgcagtgAatgtgggaaggccttcagcc	10	8	14	9	0	1	2	1	2	0	0	1	4	1	3	3	2	3	1	3	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:130206653A>G	ENST00000342483.5	+	5	1080	c.674A>G	c.(673-675)gAa>gGa	p.E225G	ZNF79_ENST00000543471.1_Missense_Mutation_p.E201G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGCAGTGAATGTGGGAAG	0.488													34	114					0	0	0	0	G	130206653	A	G	130206653	3	3	408	1	0	0	0	0	1	0	0	0	18254	246	9	5	692	5	ZNF79	9	130206653	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	55355	130206653	11006778	1955	79773											
LRSAM1	90678	broad.mit.edu	37	chr9	130265101	130265101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgctgctgccagcagTgctgccagccactgcgcacc	6	7	11	17	2	1	0	0	0	1	0	1	0	1	0	4	0	8	5	4	0	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:130265101T>C	ENST00000323301.4	+	25	2699	c.2095T>C	c.(2095-2097)Tgc>Cgc	p.C699R	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.C672R|LRSAM1_ENST00000300417.6_Missense_Mutation_p.C699R|LRSAM1_ENST00000373322.1_Missense_Mutation_p.C699R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	699					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CTGCCAGCAGTGCTGCCAGCC	0.682													3	21					0	0	0	0	C	130265101	T	C	130265101	3	2	408	1	0	0	0	0	1	0	0	0	9107	1696	59	5	2189	5	LRSAM1	9	130265101	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	58448	130265101	10948330	1956	79774											
SH2D3C	10044	broad.mit.edu	37	chr9	130511746	130511746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgatagcgcacgagggCgggcacgtggtcaaagctct	10	6	14	11	4	2	1	1	1	1	0	2	2	2	1	0	3	2	3	0	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:130511746C>T	ENST00000314830.8	-	5	996	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A138T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A135T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A137T|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A227T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	295	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCACGAGGGCGGGCACGTGG	0.587													15	58					0	0	0	0	T	130511746	C	T	130511746	3	4	408	1	0	0	0	0	1	0	0	0	14321	768	27	1	1731	1	SH2D3C	9	130511746	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	246645	130511746	10701685	1957	79775											
GLE1	2733	broad.mit.edu	37	chr9	131287588	131287588	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgaagacaagaggaggCaggatgaagaagaggcccag	15	2	16	8	1	0	5	0	1	0	4	0	8	0	7	2	4	1	1	2	4	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131287588C>T	ENST00000309971.4	+	7	1121	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	GLE1_ENST00000539582.1_Nonsense_Mutation_p.Q85*|GLE1_ENST00000372770.4_Nonsense_Mutation_p.Q339*|GLE1_ENST00000494417.1_3'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	339					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CAAGAGGAGGCAGGATGAAGA	0.612													8	46					0	0	0	0	T	131287588	C	T	131287588	4	4	408	1	0	0	0	0	0	1	0	0	6486	711	25	4	1041	4	GLE1	9	131287588	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	775842	131287588	9925843	1958	79776											
SPTAN1	6709	broad.mit.edu	37	chr9	131371248	131371248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctagccggcgcaatgaggtCttggacaggtgggtgtcctg	6	10	16	9	2	2	1	0	1	2	0	3	2	3	2	2	5	1	1	2	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131371248C>T	ENST00000372739.3	+	35	4697	c.4587C>T	c.(4585-4587)gtC>gtT	p.V1529V	SPTAN1_ENST00000358161.5_Silent_p.V1529V|SPTAN1_ENST00000372731.4_Silent_p.V1529V	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1529					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAATGAGGTCTTGGACAGGT	0.582													5	275					0	0	0	0	T	131371248	C	T	131371248	2	4	408	1	0	0	0	0	0	0	0	1	15207	900	32	2		2	SPTAN1	9	131371248	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	83660	131371248	9842183	1959	79777											
PKN3	29941	broad.mit.edu	37	chr9	131476394	131476394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaacgcatcttctctaaaCgcagaggtgtggagggaatg	12	8	14	7	2	2	1	0	0	2	1	3	4	2	4	0	4	2	2	0	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131476394C>T	ENST00000291906.4	+	10	1699	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	436					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CTTCTCTAAACGCAGAGGTGT	0.632													32	135					0	0	0	0	T	131476394	C	T	131476394	3	4	408	1	0	0	0	0	1	0	0	0	12053	536	19	1	1344	1	PKN3	9	131476394	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	105146	131476394	9737037	1960	79778											
LRRC8A	56262	broad.mit.edu	37	chr9	131669814	131669814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcactggtttgccaagtActtcccctacctggtgcttc	6	13	8	14	0	0	0	0	0	0	0	2	0	1	0	4	2	5	4	4	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131669814A>G	ENST00000259324.5	+	3	894	c.371A>G	c.(370-372)tAc>tGc	p.Y124C	LRRC8A_ENST00000372599.3_Missense_Mutation_p.Y124C|LRRC8A_ENST00000372600.4_Missense_Mutation_p.Y124C	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	124					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TTTGCCAAGTACTTCCCCTAC	0.567													35	125					0	0	0	0	G	131669814	A	G	131669814	3	3	408	1	0	0	0	0	1	0	0	0	9085	391	14	5	373	5	LRRC8A	9	131669814	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	193420	131669814	9543617	1961	79779											
DOLPP1	57171	broad.mit.edu	37	chr9	131846992	131846992	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacctgagcctcagccctgTatttgtcatcgtcggtttcg	5	14	9	13	3	2	1	2	1	0	0	5	1	2	1	3	1	3	2	3	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131846992T>G	ENST00000372546.4	+	2	154	c.122T>G	c.(121-123)gTa>gGa	p.V41G	DOLPP1_ENST00000406974.3_Missense_Mutation_p.V41G|DOLPP1_ENST00000540102.1_5'UTR	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	41					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						CTCAGCCCTGTATTTGTCATC	0.577													7	630					0	0	0	0	G	131846992	T	G	131846992	3	3	408	1	0	0	0	0	1	0	0	0	4740	1638	57	5	128	5	DOLPP1	9	131846992	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	177178	131846992	9366439	1962	79780											
CRAT	1384	broad.mit.edu	37	chr9	131862173	131862173	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacatagtccagaagggTgacaatagggggcccctccg	11	6	14	10	1	0	3	0	2	0	1	2	4	2	3	4	3	0	0	4	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131862173T>C	ENST00000318080.2	-	8	1351	c.1057A>G	c.(1057-1059)Acc>Gcc	p.T353A	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	353					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TCCAGAAGGGTGACAATAGGG	0.562													4	120					0	0	0	0	C	131862173	T	C	131862173	3	2	408	1	0	0	0	0	1	0	0	0	3877	1696	59	5	851	5	CRAT	9	131862173	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	15181	131862173	9351258	1963	79781											
IER5L	389792	broad.mit.edu	37	chr9	131939288	131939288	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagatgttggacgcgtcCggggacgagtccgggcagaa	8	8	17	8	5	0	2	0	1	0	2	2	6	2	4	2	4	0	2	2	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131939288C>A	ENST00000372491.2	-	1	1252	c.1044G>T	c.(1042-1044)ccG>ccT	p.P348P	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	348													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TGGACGCGTCCGGGGACGAGT	0.716													6	21					0.00116845	0.00118101	1	0	A	131939288	C	A	131939288	2	1	408	1	0	0	0	0	0	0	0	1	7562	639	23	3		3	IER5L	9	131939288	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	77115	131939288	9274143	1964	79782											
TOR1B	27348	broad.mit.edu	37	chr9	132566419	132566419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggaagtgattttcaaggcGctgactggcttcaggaacaa	12	9	12	8	2	2	2	2	2	0	0	2	4	2	4	0	4	1	2	0	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:132566419G>A	ENST00000259339.2	+	2	327	c.267G>A	c.(265-267)gcG>gcA	p.A89A	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	89					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TTTTCAAGGCGCTGACTGGCT	0.488													26	49					0	0	0	0	A	132566419	G	A	132566419	2	1	408	1	0	0	0	0	0	0	0	1	16469	1074	38	1		1	TOR1B	9	132566419	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	627131	132566419	8647012	1965	79783											
ABL1	25	broad.mit.edu	37	chr9	133729579	133729579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaccttttcgttgcactgTatgattttgtggccagtgga	7	15	10	9	1	0	1	0	1	0	0	1	2	0	2	3	2	2	3	3	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:133729579T>C	ENST00000318560.5	+	2	589	c.208T>C	c.(208-210)Tat>Cat	p.Y70H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	70	SH3.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGTTGCACTGTATGATTTTGT	0.478			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								62	164					0	0	0	0	C	133729579	T	C	133729579	3	2	408	1	0	0	0	0	1	0	0	0	92	1638	57	5	354	5	ABL1	9	133729579	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1163160	133729579	7483852	1966	79784											
ABL1	25	broad.mit.edu	37	chr9	133748417	133748417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggagaagaaaaacttcAtccacaggtaggggcctggc	13	6	12	10	0	1	2	1	0	0	2	2	3	2	2	3	5	1	1	3	5	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:133748417A>G	ENST00000318560.5	+	6	1459	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	360	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAAAAACTTCATCCACAGGTA	0.607			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								12	32					0	0	0	0	G	133748417	A	G	133748417	3	3	408	1	0	0	0	0	1	0	0	0	92	217	8	5	1240	5	ABL1	9	133748417	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	18838	133748417	7465014	1967	79785											
TTF1	7270	broad.mit.edu	37	chr9	135277541	135277541	+	Frame_Shift_Del	DEL	T	T	-																															cccggttactggactttttcTtttttttcttagacttgttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:135277541delT	ENST00000334270.2	-	2	707	c.668delA	c.(667-669)agfs	p.K225fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	225	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGACTTTTTCTTTTTTTTCTT	0.493													13	46	---	---	---	---					-	135277541	T	-	135277541	7	5	408	1	0	1	0	1	0	0	0	0	16814	1609	56	0	2089	0	TTF1	9	135277541	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1529124	135277541	5935890	1968	79786											
C9orf9	11092	broad.mit.edu	37	chr9	135759426	135759426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccgccgctctggagcActgcagggagaacgcccacg	8	5	12	16	4	2	1	1	0	1	1	2	3	2	2	3	2	3	3	3	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:135759426A>G	ENST00000372136.3	+	2	539	c.92A>G	c.(91-93)cAc>cGc	p.H31R	C9orf9_ENST00000356311.5_Missense_Mutation_p.H31R|C9orf9_ENST00000350499.6_Missense_Mutation_p.H31R			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	31								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GCTCTGGAGCACTGCAGGGAG	0.612													19	69					0	0	0	0	G	135759426	A	G	135759426	3	3	408	1	0	0	0	0	1	0	0	0	2529	159	6	5	94	5	C9orf9	9	135759426	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	481885	135759426	5454005	1969	79787											
TSC1	7248	broad.mit.edu	37	chr9	135771891	135771891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagtgagcccacagtggTggggatgctggcagacgctt	8	7	18	8	1	0	2	0	1	0	1	0	4	0	4	1	5	2	3	1	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:135771891T>C	ENST00000298552.3	-	23	3447	c.3226A>G	c.(3226-3228)Acc>Gcc	p.T1076A	TSC1_ENST00000440111.2_Missense_Mutation_p.T1076A|TSC1_ENST00000545250.1_Missense_Mutation_p.T1025A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1076					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCCACAGTGGTGGGGATGCTG	0.557			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				22	88					0	0	0	0	C	135771891	T	C	135771891	3	2	408	1	0	0	0	0	1	0	0	0	16700	1696	59	5	272	5	TSC1	9	135771891	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	12465	135771891	5441540	1970	79788											
TSC1	7248	broad.mit.edu	37	chr9	135786806	135786808	+	In_Frame_Del	DEL	GAG	GAG	-																															gtcagcttcaccagaaagcaGaggagagagcaggcacacta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:135786806_135786808delGAG	ENST00000403810.1	-	10	1294_1296	c.1061_1063delCTC	c.(1060-1065)ctg>c	p.PL354del	TSC1_ENST00000440111.2_Intron|TSC1_ENST00000545250.1_Intron|TSC1_ENST00000298552.3_Intron			Q92574	TSC1_HUMAN	tuberous sclerosis 1	359					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCAGAAAGCAGAGGAGAGAGCAG	0.468			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				29	95	---	---	---	---					-	135786808	GAG	-	135786806	7	5	408	1	0	1	0	1	0	0	0	0	16700	957	33	0		0	TSC1	9	135786806	In_Frame_Del	DEL	GAG	TCGA-F7-A624-01A-22D-A30E-08	14915	135786806	5426625	1971	79789											
DBH	1621	broad.mit.edu	37	chr9	136501547	136501547	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagcatgcgggaggcAgccttcatgtacagcacagc	9	5	13	14	1	1	0	1	0	0	0	1	1	1	1	3	3	6	4	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136501547A>T	ENST00000393056.2	+	1	66	c.54A>T	c.(52-54)gcA>gcT	p.A18A		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	18					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGCGGGAGGCAGCCTTCATGT	0.672													18	68					0	0	0	0	T	136501547	A	T	136501547	2	4	408	1	0	0	0	0	0	0	0	1	4283	175	7	5		5	DBH	9	136501547	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	714741	136501547	4711884	1972	79790											
SARDH	1757	broad.mit.edu	37	chr9	136573485	136573485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacgacggagtagttcttgGcgtaggactcatggcttcgc	8	10	14	9	4	2	1	1	0	1	1	3	4	2	3	0	4	0	4	0	4	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136573485G>A	ENST00000371872.4	-	11	1651	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V	SARDH_ENST00000422262.2_Missense_Mutation_p.A297V|SARDH_ENST00000439388.1_Missense_Mutation_p.A465V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	465					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTAGTTCTTGGCGTAGGACTC	0.652													20	190					0	0	0	0	A	136573485	G	A	136573485	3	1	408	1	0	0	0	0	1	0	0	0	13927	1203	42	4	1406	4	SARDH	9	136573485	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	71938	136573485	4639946	1973	79791											
SARDH	1757	broad.mit.edu	37	chr9	136594927	136594927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgacgacataggcatggTgcatggccaccagcgggacc	9	5	15	12	3	0	1	0	1	0	0	0	3	0	2	3	5	2	2	3	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136594927T>C	ENST00000371872.4	-	6	1132	c.875A>G	c.(874-876)cAc>cGc	p.H292R	SARDH_ENST00000422262.2_Missense_Mutation_p.H124R|SARDH_ENST00000371867.1_Missense_Mutation_p.H203R|SARDH_ENST00000439388.1_Missense_Mutation_p.H292R|SARDH_ENST00000298628.5_Missense_Mutation_p.H292R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	292					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ATAGGCATGGTGCATGGCCAC	0.632													6	116					0	0	0	0	C	136594927	T	C	136594927	3	2	408	1	0	0	0	0	1	0	0	0	13927	1696	59	5	1945	5	SARDH	9	136594927	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	21442	136594927	4618504	1974	79792											
BRD3	8019	broad.mit.edu	37	chr9	136905384	136905384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccagctgctcgtgcacgGccttcagctggaaaagagcg	8	6	14	13	4	1	1	1	0	0	1	2	2	1	2	2	3	5	4	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136905384G>C	ENST00000303407.7	-	9	1600	c.1415C>G	c.(1414-1416)gCc>gGc	p.A472G	BRD3_ENST00000371834.2_Missense_Mutation_p.A472G|BRD3_ENST00000357885.2_Missense_Mutation_p.A472G|BRD3_ENST00000473349.1_Intron	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	472						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCGTGCACGGCCTTCAGCTG	0.617			T	C15orf55	lethal midline carcinoma of young people								3	14					0	0	0	0	C	136905384	G	C	136905384	3	2	408	1	0	0	0	0	1	0	0	0	1511	1203	42	4	781	4	BRD3	9	136905384	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	310457	136905384	4308047	1975	79793											
BRD3	8019	broad.mit.edu	37	chr9	136907048	136907048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacgggctcatctggcatcTtggcaaacctcatctcaaac	10	9	7	15	1	5	0	3	0	3	0	6	0	5	0	2	3	2	3	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136907048T>C	ENST00000303407.7	-	8	1426	c.1241A>G	c.(1240-1242)aAg>aGg	p.K414R	BRD3_ENST00000371834.2_Missense_Mutation_p.K414R|BRD3_ENST00000357885.2_Missense_Mutation_p.K414R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	414						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ATCTGGCATCTTGGCAAACCT	0.652			T	C15orf55	lethal midline carcinoma of young people								5	28					0	0	0	0	C	136907048	T	C	136907048	3	2	408	1	0	0	0	0	1	0	0	0	1511	1609	56	5	959	5	BRD3	9	136907048	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1664	136907048	4306383	1976	79794											
RXRA	6256	broad.mit.edu	37	chr9	137328392	137328392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatctcttcttcttcaagCtcatcggggacacacccatt	10	12	5	14	1	5	0	2	0	3	0	7	1	5	1	1	2	2	1	1	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:137328392C>T	ENST00000540193.1	+	9	1953	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	RXRA_ENST00000481739.1_Missense_Mutation_p.L441F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	441	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CTTCTTCAAGCTCATCGGGGA	0.587													7	144					0	0	0	0	T	137328392	C	T	137328392	3	4	408	1	0	0	0	0	1	0	0	0	13848	797	28	4	1359	4	RXRA	9	137328392	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	421344	137328392	3885039	1977	79795											
COL5A1	1289	broad.mit.edu	37	chr9	137593114	137593114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcgaccgcagcgaccacCccatgatcgacatcaatggc	10	6	8	17	4	1	1	1	1	0	0	4	4	2	1	5	1	1	1	5	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:137593114C>A	ENST00000371817.3	+	4	1003	c.589C>A	c.(589-591)Ccc>Acc	p.P197T	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	197	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGCGACCACCCCATGATCGA	0.542													12	24					6.40141e-05	6.51258e-05	1	0	A	137593114	C	A	137593114	3	1	408	1	0	0	0	0	1	0	0	0	3726	623	22	4	603	4	COL5A1	9	137593114	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	264722	137593114	3620317	1978	79796											
COL5A1	1289	broad.mit.edu	37	chr9	137642390	137642390	+	Frame_Shift_Del	DEL	C	C	-																															ttggccccttgtcttcagggCccccctggacgcccaggcct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:137642390delC	ENST00000371817.3	+	12	1911	c.1497delC	c.(1495-1497)ggfs	p.G499fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	499	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P501fs*57(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCTTCAGGGCCCCCCTGGAC	0.667													27	79	---	---	---	---					-	137642390	C	-	137642390	7	5	408	1	0	1	0	1	0	0	0	0	3726	726	26	0	1543	0	COL5A1	9	137642390	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	49276	137642390	3571041	1979	79797											
KCNT1	57582	broad.mit.edu	37	chr9	138667192	138667192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcccaactcgccctacatCggcagctccccaaccctgtg	7	7	6	21	2	0	0	0	0	0	0	4	0	2	0	6	1	4	2	6	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:138667192C>T	ENST00000298480.5	+	20	2354	c.2280C>T	c.(2278-2280)atC>atT	p.I760I	KCNT1_ENST00000263604.3_Silent_p.I741I|KCNT1_ENST00000490355.2_Silent_p.I739I|KCNT1_ENST00000487664.1_Silent_p.I715I|KCNT1_ENST00000486577.2_Silent_p.I719I|KCNT1_ENST00000488444.2_Silent_p.I741I|KCNT1_ENST00000491806.2_Silent_p.I727I|KCNT1_ENST00000371757.2_Silent_p.I760I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	760						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGCCCTACATCGGCAGCTCCC	0.662													28	72					0	0	0	0	T	138667192	C	T	138667192	2	4	408	1	0	0	0	0	0	0	0	1	8144	874	31	1		1	KCNT1	9	138667192	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1024802	138667192	2546239	1980	79798											
SEC16A	9919	broad.mit.edu	37	chr9	139371345	139371345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgctggtggcacagggCaccccgctgggaacaggtcc	8	4	16	13	2	0	0	0	0	0	0	1	2	1	2	3	6	2	4	3	6	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139371345C>T	ENST00000313050.7	-	1	796	c.723G>A	c.(721-723)gtG>gtA	p.V241V	SEC16A_ENST00000431893.2_Silent_p.V63V|SEC16A_ENST00000371706.3_Silent_p.V63V|SEC16A_ENST00000290037.6_Silent_p.V63V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	63					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGGCACAGGGCACCCCGCTGG	0.657													12	28					0	0	0	0	T	139371345	C	T	139371345	2	4	408	1	0	0	0	0	0	0	0	1	14073	697	25	4		4	SEC16A	9	139371345	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	704153	139371345	1842086	1981	79799											
NOTCH1	4851	broad.mit.edu	37	chr9	139395187	139395187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggttgtgcaggctggcGccctggtagatgaagtcgga	6	10	17	8	2	1	2	0	1	1	1	2	3	1	3	1	5	1	4	1	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139395187G>A	ENST00000277541.6	-	31	5826	c.5751C>T	c.(5749-5751)ggC>ggT	p.G1917G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1917					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGCTGGCGCCCTGGTAGA	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			51	152					0	0	0	0	A	139395187	G	A	139395187	2	1	408	1	0	0	0	0	0	0	0	1	10617	1074	38	1		1	NOTCH1	9	139395187	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	23842	139395187	1818244	1982	79800											
AGPAT2	10555	broad.mit.edu	37	chr9	139571444	139571444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgcgctcgcccaggtcgGccatcactgtcatggcagtg	6	8	12	15	3	2	0	2	0	0	0	4	0	2	0	3	3	1	2	3	3	0	0	rs150530734	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139571444G>A	ENST00000371696.2	-	3	526	c.461C>T	c.(460-462)gCc>gTc	p.A154V	AGPAT2_ENST00000538402.1_Missense_Mutation_p.A154V|AGPAT2_ENST00000371694.3_Missense_Mutation_p.A154V	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	154					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GCCCAGGTCGGCCATCACTGT	0.687													4	157					0	0	0	0	A	139571444	G	A	139571444	3	1	408	1	0	0	0	0	1	0	0	0	387	1203	42	4	391	4	AGPAT2	9	139571444	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	176257	139571444	1641987	1983	79801											
FAM69B	138311	broad.mit.edu	37	chr9	139617613	139617613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctactgtggggaccTctacctcaccgagggcgtgc	5	8	15	13	2	2	0	1	0	1	0	2	2	2	1	3	4	3	2	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139617613T>C	ENST00000371691.1	+	3	1521	c.422T>C	c.(421-423)cTc>cCc	p.L141P	FAM69B_ENST00000371692.4_Missense_Mutation_p.L228P|SNHG7_ENST00000414282.1_RNA			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	228						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGTGGGGACCTCTACCTCACC	0.687													45	117					0	0	0	0	C	139617613	T	C	139617613	3	2	408	1	0	0	0	0	1	0	0	0	5649	1551	54	5	701	5	FAM69B	9	139617613	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	46169	139617613	1595818	1984	79802											
ABCA2	20	broad.mit.edu	37	chr9	139905674	139905674	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgttgatgtactcgttgtAggccatctccatgagcccgt	6	13	10	12	3	1	2	0	2	1	0	4	2	1	2	3	1	2	4	3	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139905674A>G	ENST00000265662.5	-	38	6034	c.5887T>C	c.(5887-5889)Tac>Cac	p.Y1963H	ABCA2_ENST00000371605.3_Missense_Mutation_p.Y1962H|ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1963H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1962					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TACTCGTTGTAGGCCATCTCC	0.617													4	91					0	0	0	0	G	139905674	A	G	139905674	3	3	408	1	0	0	0	0	1	0	0	0	32	420	15	5	1471	5	ABCA2	9	139905674	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	288061	139905674	1307757	1985	79803											
NPDC1	56654	broad.mit.edu	37	chr9	139935003	139935003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgagccaggggccttcGcagtggcgtagtcggccttc	5	8	16	12	3	0	1	0	1	0	0	3	1	0	1	3	5	1	2	3	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139935003G>A	ENST00000371600.3	-	5	1577	c.905C>T	c.(904-906)gCg>gTg	p.A302V	NPDC1_ENST00000371601.4_Missense_Mutation_p.A224V			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	224						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGGGCCTTCGCAGTGGCGTA	0.687													4	13					0	0	0	0	A	139935003	G	A	139935003	3	1	408	1	0	0	0	0	1	0	0	0	10643	1087	38	1	322	1	NPDC1	9	139935003	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	29329	139935003	1278428	1986	79804											
UAP1L1	91373	broad.mit.edu	37	chr9	139972841	139972841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccaaaatggggcctggcCccagccccaactggacactg	9	4	12	16	0	0	0	0	0	0	0	0	1	0	1	6	5	2	0	6	5	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139972841C>T	ENST00000360271.3	+	1	249	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	UAP1L1_ENST00000476184.1_Intron|UAP1L1_ENST00000409858.3_Intron			Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	0							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGGGCCTGGCCCCAGCCCCAA	0.726													3	31					0	0	0	0	T	139972841	C	T	139972841	3	4	408	1	0	0	0	0	1	0	0	0	16922	638	22	4		4	UAP1L1	9	139972841	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	37838	139972841	1240590	1987	79805											
EHMT1	79813	broad.mit.edu	37	chr9	140705943	140705943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcctgcactgggcggcgTtctccggctgcgtggacata	4	11	14	12	4	1	0	0	0	1	0	2	1	1	1	2	4	3	3	2	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140705943T>C	ENST00000460843.1	+	19	2770	c.2743T>C	c.(2743-2745)Ttc>Ctc	p.F915L		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	915					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGGGCGGCGTTCTCCGGCTG	0.637													32	68					0	0	0	0	C	140705943	T	C	140705943	3	2	408	1	0	0	0	0	1	0	0	0	5019	1725	60	5	2866	5	EHMT1	9	140705943	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	733102	140705943	507488	1988	79806											
EHMT1	79813	broad.mit.edu	37	chr9	140706049	140706049	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacattgccgcccgggagaAccgctacgactgtgtcgtgt	7	8	13	13	5	0	1	0	0	0	1	1	3	0	1	3	1	3	2	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140706049A>G	ENST00000460843.1	+	19	2876	c.2849A>G	c.(2848-2850)aAc>aGc	p.N950S		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	950					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCCCGGGAGAACCGCTACGAC	0.647													17	66					0	0	0	0	G	140706049	A	G	140706049	3	3	408	1	0	0	0	0	1	0	0	0	5019	43	2	5	2972	5	EHMT1	9	140706049	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	106	140706049	507382	1989	79807											
EHMT1	79813	broad.mit.edu	37	chr9	140729234	140729234	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccccaggtttgactaTggagagcgcttctgggacat	7	11	11	12	1	1	2	0	1	1	1	3	4	3	3	3	3	1	2	3	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140729234T>C	ENST00000460843.1	+	27	3753	c.3726T>C	c.(3724-3726)taT>taC	p.Y1242Y		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1242	Interaction with histone H3.|SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGTTTGACTATGGAGAGCGCT	0.607													17	45					0	0	0	0	C	140729234	T	C	140729234	2	2	408	1	0	0	0	0	0	0	0	1	5019	1471	51	5		5	EHMT1	9	140729234	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	23185	140729234	484197	1990	79808											
CACNA1B	774	broad.mit.edu	37	chr9	140811791	140811791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtactggccaggacccaacTttggcatcaccaactttgac	11	9	8	13	0	1	1	1	1	0	0	1	2	1	2	3	3	3	2	3	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140811791T>C	ENST00000371372.1	+	6	1019	c.874T>C	c.(874-876)Ttt>Ctt	p.F292L	CACNA1B_ENST00000277551.2_Missense_Mutation_p.F292L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F292L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F292L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F292L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	292					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.F292V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGACCCAACTTTGGCATCAC	0.582													37	106					0	0	0	0	C	140811791	T	C	140811791	3	2	408	1	0	0	0	0	1	0	0	0	2564	1609	56	5	896	5	CACNA1B	9	140811791	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	82557	140811791	401640	1991	79809											
CACNA1B	774	broad.mit.edu	37	chr9	140901252	140901252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggactggaatgcagtgatgTatcacgggatcgaatcgcaa	13	8	13	7	3	1	1	1	1	0	0	3	5	1	4	0	3	1	3	0	3	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140901252T>C	ENST00000371372.1	+	16	2153	c.2008T>C	c.(2008-2010)Tat>Cat	p.Y670H	CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y670H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y670H|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y671H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y671H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	670					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGCAGTGATGTATCACGGGAT	0.567													4	24					0	0	0	0	C	140901252	T	C	140901252	3	2	408	1	0	0	0	0	1	0	0	0	2564	1638	57	5	2070	5	CACNA1B	9	140901252	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	89461	140901252	312179	1992	79810											
CACNA1B	774	broad.mit.edu	37	chr9	140911612	140911612	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtaaagcaagctcgaggTactgtatctcgcagctcatc	10	12	9	10	2	2	0	1	0	1	0	5	1	2	0	0	1	4	7	0	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140911612T>C	ENST00000277550.3	+	3	162	c.162T>C	c.(160-162)ggT>ggC	p.G54G	CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000371357.1_Intron			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	761					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGCTCGAGGTACTGTATCTC	0.473													4	37					0	0	0	0	C	140911612	T	C	140911612	2	2	408	1	0	0	0	0	0	0	0	1	2564	1653	57	5		5	CACNA1B	9	140911612	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	10360	140911612	301819	1993	79811											
CACNA1B	774	broad.mit.edu	37	chr9	140938227	140938227	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgtgtccttgtaggTggtaacgtggacctggaaag	7	10	16	8	1	0	0	0	0	0	0	1	2	1	2	3	5	1	2	3	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140938227T>C	ENST00000277549.5	+	21	3433	c.862_splice	c.e21-1	p.S288_splice	CACNA1B_ENST00000277551.2_Splice_Site_p.S1096_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.S1096_splice|CACNA1B_ENST00000545473.1_Splice_Site_p.G122_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.S1097_splice|CACNA1B_ENST00000371372.1_Splice_Site_p.S1096_splice|CACNA1B_ENST00000371357.1_Splice_Site_p.S1097_splice			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1096					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTTGTAGGTGGTAACGTGG	0.627													8	103					0	0	0	0	C	140938227	T	C	140938227	5	2	408	1	0	0	0	0	0	0	1	0	2564	1710	59	5	3370	5	CACNA1B	9	140938227	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	26615	140938227	275204	1994	79812											
TUBB8	347688	broad.mit.edu	37	chr10	93252	93252	+	Frame_Shift_Del	DEL	C	C	-																															aaggtggctgacatttttagCccccggggtgggatgtcaca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:93252delC	ENST00000447903.2	-	4	1179	c.864delG	c.(862-864)ggfs	p.G288fs	TUBB8_ENST00000309812.4_Frame_Shift_Del_p.G360fs			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	360					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		ACATTTTTAGCCCCCGGGGTG	0.478													10	205	---	---	---	---					-	93252	C	-	93252	7	5	408	1	0	1	0	1	0	0	0	0	16857	726	26	0	258	0	TUBB8	10	93252	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08		93252	135441495	1995	79813											
DIP2C	22982	broad.mit.edu	37	chr10	532416	532416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactcggaggctgcggaaggTaggctccaattaactttgac	10	10	12	9	2	0	1	0	1	0	0	2	3	1	3	1	5	3	3	1	5	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:532416T>C	ENST00000280886.6	-	2	227	c.140A>G	c.(139-141)tAc>tGc	p.Y47C	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	47						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGCGGAAGGTAGGCTCCAAT	0.473													31	92					0	0	0	0	C	532416	T	C	532416	3	2	408	1	0	0	0	0	1	0	0	0	4566	1638	57	5	4674	5	DIP2C	10	532416	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	439164	532416	135002331	1996	79814											
LARP4B	23185	broad.mit.edu	37	chr10	860989	860989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacaggaagggtgttcaCgcttgcgtctgcactgaggg	8	9	14	10	2	2	1	1	1	1	0	2	2	2	2	0	3	3	3	0	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:860989C>T	ENST00000316157.3	-	15	1757	c.1717G>A	c.(1717-1719)Gtg>Atg	p.V573M	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	573							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AGGGTGTTCACGCTTGCGTCT	0.592													27	76					0	0	0	0	T	860989	C	T	860989	3	4	408	1	0	0	0	0	1	0	0	0	8684	536	19	1	511	1	LARP4B	10	860989	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	328573	860989	134673758	1997	79815											
LARP4B	23185	broad.mit.edu	37	chr10	863782	863782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggacagccccagctcgaaGcttggcgacggaggctttgg	7	7	15	12	3	0	0	0	0	0	0	1	4	0	2	2	5	3	3	2	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:863782G>T	ENST00000316157.3	-	14	1618	c.1578C>A	c.(1576-1578)agC>agA	p.S526R		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	526							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCAGCTCGAAGCTTGGCGACG	0.542													50	136					1.19451e-25	1.26519e-25	1	0	T	863782	G	T	863782	3	4	408	1	0	0	0	0	1	0	0	0	8684	962	34	4	654	4	LARP4B	10	863782	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2793	863782	134670965	1998	79816											
AKR1C1	1645	broad.mit.edu	37	chr10	5014490	5014490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtgctctgggatcccaccGagaagaaccatggtaataag	13	8	11	9	1	1	2	0	0	1	2	2	4	2	3	3	2	2	2	3	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:5014490G>A	ENST00000380872.4	+	6	860	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R223Q	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						GGATCCCACCGAGAAGAACCA	0.408													15	39					0	0	0	0	A	5014490	G	A	5014490	3	1	408	1	0	0	0	0	1	0	0	0	469	1058	37	1	690	1	AKR1C1	10	5014490	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4150708	5014490	130520257	1999	79817											
AKR1C4	1109	broad.mit.edu	37	chr10	5242185	5242185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtcaccaaattagcaatAgaagctggcttccgccatat	13	9	9	10	1	1	1	1	0	0	1	2	2	2	1	3	2	2	3	3	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:5242185A>G	ENST00000380448.1	+	4	379	c.126A>G	c.(124-126)atA>atG	p.I42M	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.I42M			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	42					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AATTAGCAATAGAAGCTGGCT	0.448													30	104					0	0	0	0	G	5242185	A	G	5242185	3	3	408	1	0	0	0	0	1	0	0	0	472	410	15	5	132	5	AKR1C4	10	5242185	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	227695	5242185	130292562	2000	79818											
UCN3	114131	broad.mit.edu	37	chr10	5415734	5415734	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgctgctcctggggggCcccaggacaggcctccccca	4	6	13	18	0	0	0	0	0	0	0	2	1	2	1	6	5	3	3	6	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:5415734C>G	ENST00000380433.3	+	2	279	c.51C>G	c.(49-51)ggC>ggG	p.G17G		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	17						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						TCCTGGGGGGCCCCAGGACAG	0.637													5	87					0	0	0	0	G	5415734	C	G	5415734	2	3	408	1	0	0	0	0	0	0	0	1	17025	726	26	4		4	UCN3	10	5415734	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	173549	5415734	130119013	2001	79819											
UPF2	26019	broad.mit.edu	37	chr10	11998356	11998356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttctaacactccatccAcaacgtggatcccaacatcc	12	10	3	16	1	2	0	0	0	2	0	6	1	6	1	4	1	3	0	4	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:11998356A>G	ENST00000356352.2	-	12	3010	c.2537T>C	c.(2536-2538)gTg>gCg	p.V846A	UPF2_ENST00000397053.2_Missense_Mutation_p.V846A|UPF2_ENST00000357604.5_Missense_Mutation_p.V846A			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	846	Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CACTCCATCCACAACGTGGAT	0.378													26	86					0	0	0	0	G	11998356	A	G	11998356	3	3	408	1	0	0	0	0	1	0	0	0	17100	159	6	5	1321	5	UPF2	10	11998356	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6582622	11998356	123536391	2002	79820											
UPF2	26019	broad.mit.edu	37	chr10	12021070	12021070	+	Frame_Shift_Del	DEL	C	C	-																															acatacatgaaatctgaaatCccccctcagcatggaacaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:12021070delC	ENST00000356352.2	-	8	2412	c.1939delG	c.(1939-1941)atfs	p.D647fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.D647fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.D647fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	647	MIF4G 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AATCTGAAATCCCCCCTCAGC	0.353													14	62	---	---	---	---					-	12021070	C	-	12021070	7	5	408	1	0	1	0	1	0	0	0	0	17100	855	30	0	1935	0	UPF2	10	12021070	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	22714	12021070	123513677	2003	79821											
SEC61A2	55176	broad.mit.edu	37	chr10	12197792	12197792	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagttgtttgttgctggtTtgattgtgctgctgttagat	5	19	12	5	0	0	2	0	1	0	1	0	2	0	2	0	1	3	8	0	1	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:12197792T>C	ENST00000379033.3	+	6	559	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L	SEC61A2_ENST00000304267.8_Silent_p.L160L|SEC61A2_ENST00000298428.9_Silent_p.L160L|SEC61A2_ENST00000379020.4_Silent_p.L160L|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	160						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TGTTGCTGGTTTGATTGTGCT	0.468													55	445					0	0	0	0	C	12197792	T	C	12197792	2	2	408	1	0	0	0	0	0	0	0	1	14088	1838	64	5		5	SEC61A2	10	12197792	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	176722	12197792	123336955	2004	79822											
OPTN	10133	broad.mit.edu	37	chr10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-																															gtgaaagcacaggaaatggaCccccccacctggcccaccca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13151192delC	ENST00000378748.3	+	4	432	c.70delC	c.(70-72)ccfs	p.P25fs	OPTN_ENST00000263036.5_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378764.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378752.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378757.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378747.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000482140.1_3'UTR	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	25					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGAAATGGACCCCCCCACCT	0.557													57	199	---	---	---	---					-	13151192	C	-	13151192	7	5	408	1	0	1	0	1	0	0	0	0	10960	507	18	0	72	0	OPTN	10	13151192	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	953400	13151192	122383555	2005	79823											
MCM10	55388	broad.mit.edu	37	chr10	13222506	13222506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaaactgatcagactgTctcagatcaaggaaaagatg	16	7	10	8	1	3	4	3	1	1	3	4	6	3	5	1	1	1	0	1	1	5	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13222506T>C	ENST00000378694.1	+	6	904	c.829T>C	c.(829-831)Tct>Cct	p.S277P	MCM10_ENST00000484800.2_Missense_Mutation_p.S278P|MCM10_ENST00000378714.3_Missense_Mutation_p.S277P			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	278					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GATCAGACTGTCTCAGATCAA	0.438													41	113					0	0	0	0	C	13222506	T	C	13222506	3	2	408	1	0	0	0	0	1	0	0	0	9454	1667	58	5	854	5	MCM10	10	13222506	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	71314	13222506	122312241	2006	79824											
FRMD4A	55691	broad.mit.edu	37	chr10	13698938	13698938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtcgccgccgccgccgCgccagctctccttgaacagg	4	6	11	20	7	1	1	0	1	1	0	4	1	1	1	7	1	2	1	7	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13698938C>T	ENST00000357447.2	-	22	3019	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H	FRMD4A_ENST00000358621.4_Missense_Mutation_p.R869H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.R884H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	884						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGCCGCCGCGCCAGCTCTC	0.711													4	18					0	0	0	0	T	13698938	C	T	13698938	3	4	408	1	0	0	0	0	1	0	0	0	6099	768	27	1	480	1	FRMD4A	10	13698938	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	476432	13698938	121835809	2007	79825											
FRMD4A	55691	broad.mit.edu	37	chr10	13699253	13699253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctctgcctctggcgcGccttggacggcgagtcctcg	2	9	14	16	5	2	0	0	0	2	0	4	2	3	1	4	3	2	1	4	3	0	1	rs139853925		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13699253G>A	ENST00000357447.2	-	22	2704	c.2336C>T	c.(2335-2337)gCg>gTg	p.A779V	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A764V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A779V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	779						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTCTGGCGCGCCTTGGACGG	0.731													3	11					0	0	0	0	A	13699253	G	A	13699253	3	1	408	1	0	0	0	0	1	0	0	0	6099	1087	38	1	795	1	FRMD4A	10	13699253	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	315	13699253	121835494	2008	79826											
FRMD4A	55691	broad.mit.edu	37	chr10	13701455	13701455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcctccgccggcttccGcacagcttcctgtgctgggg	2	11	12	16	3	0	0	0	0	0	0	4	0	4	0	5	3	3	5	5	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13701455G>A	ENST00000357447.2	-	21	2302	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	645	Ser-rich.					cytoplasm|cytoskeleton	binding	p.A645V(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGGCTTCCGCACAGCTTCC	0.657													23	91					0	0	0	0	A	13701455	G	A	13701455	3	1	408	1	0	0	0	0	1	0	0	0	6099	1087	38	1	1201	1	FRMD4A	10	13701455	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2202	13701455	121833292	2009	79827											
FRMD4A	55691	broad.mit.edu	37	chr10	13708105	13708105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcactgaccgtctatgAtcagcgaagccctctgggtg	7	10	13	11	2	3	2	1	2	2	0	3	3	3	2	2	2	2	2	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13708105A>G	ENST00000357447.2	-	18	1963	c.1595T>C	c.(1594-1596)aTc>aCc	p.I532T	FRMD4A_ENST00000358621.4_Missense_Mutation_p.I517T|FRMD4A_ENST00000378503.1_Missense_Mutation_p.I532T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	532						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACCGTCTATGATCAGCGAAGC	0.592													32	123					0	0	0	0	G	13708105	A	G	13708105	3	3	408	1	0	0	0	0	1	0	0	0	6099	333	12	5	1552	5	FRMD4A	10	13708105	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6650	13708105	121826642	2010	79828											
PTPLA	9200	broad.mit.edu	37	chr10	17636370	17636370	+	Frame_Shift_Del	DEL	A	A	-																															ccaacaggatataagatgatAaaaaaattatatctggagaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:17636370delA	ENST00000361271.3	-	6	655	c.618delT	c.(616-618)ttfs	p.F206fs		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	206					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ATAAGATGATAAAAAAATTAT	0.313													13	52	---	---	---	---					-	17636370	A	-	17636370	7	5	408	1	0	1	0	1	0	0	0	0	12854	359	13	0	256	0	PTPLA	10	17636370	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	3928265	17636370	117898377	2011	79829											
CACNB2	783	broad.mit.edu	37	chr10	18828508	18828508	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgttcccgggacgtggAtcgagagcaggaccacaacg	10	4	14	13	5	0	1	0	0	0	1	2	5	1	4	3	3	2	3	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:18828508A>T	ENST00000396576.2	+	13	2174	c.1673A>T	c.(1672-1674)gAt>gTt	p.D558V	CACNB2_ENST00000377329.4_Missense_Mutation_p.D559V|CACNB2_ENST00000377315.4_Missense_Mutation_p.D565V|CACNB2_ENST00000282343.8_Missense_Mutation_p.D585V|CACNB2_ENST00000352115.6_Missense_Mutation_p.D589V|CACNB2_ENST00000377328.1_Missense_Mutation_p.D363V|CACNB2_ENST00000377319.3_Missense_Mutation_p.D520V|CACNB2_ENST00000377331.2_Missense_Mutation_p.D561V|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.D613V	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	613					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGGGACGTGGATCGAGAGCAG	0.557													20	85					0	0	0	0	T	18828508	A	T	18828508	3	4	408	1	0	0	0	0	1	0	0	0	2578	333	12	5	2202	5	CACNB2	10	18828508	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1192138	18828508	116706239	2012	79830											
DNAJC1	64215	broad.mit.edu	37	chr10	22209773	22209773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacagcataatgacccActgtgagaataatgaacaag	19	6	7	9	0	0	3	0	3	0	1	0	4	0	3	2	0	3	1	2	0	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:22209773A>G	ENST00000376980.3	-	4	781	c.491T>C	c.(490-492)gTg>gCg	p.V164A	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	164					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ATAATGACCCACTGTGAGAAT	0.393													28	84					0	0	0	0	G	22209773	A	G	22209773	3	3	408	1	0	0	0	0	1	0	0	0	4664	159	6	5	1209	5	DNAJC1	10	22209773	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3381265	22209773	113324974	2013	79831											
PTF1A	256297	broad.mit.edu	37	chr10	23481613	23481613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgagcaggccgaggtggagTtccttagccaccagctccac	9	6	12	14	2	0	0	0	0	0	0	2	3	2	1	5	3	3	3	5	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:23481613T>C	ENST00000376504.3	+	1	358	c.154T>C	c.(154-156)Ttc>Ctc	p.F52L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	52					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGAGGTGGAGTTCCTTAGCCA	0.697													6	25					0	0	0	0	C	23481613	T	C	23481613	3	2	408	1	0	0	0	0	1	0	0	0	12819	1725	60	5	156	5	PTF1A	10	23481613	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1271840	23481613	112053134	2014	79832											
KIAA1217	56243	broad.mit.edu	37	chr10	24722076	24722076	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagtgtcgccatttacAtcaaagatgaaagcagaaat	15	8	8	10	2	1	3	1	1	0	2	2	3	1	3	2	0	2	1	2	0	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:24722076A>G	ENST00000376454.3	+	4	736	c.706A>G	c.(706-708)Atc>Gtc	p.I236V	KIAA1217_ENST00000430453.2_Missense_Mutation_p.I157V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.I236V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.I236V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.I156V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	236					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGCCATTTACATCAAAGATGA	0.393													24	53					0	0	0	0	G	24722076	A	G	24722076	3	3	408	1	0	0	0	0	1	0	0	0	8267	217	8	5	720	5	KIAA1217	10	24722076	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1240463	24722076	110812671	2015	79833											
ANKRD26	22852	broad.mit.edu	37	chr10	27335415	27335415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgtttttctttttcagTgctctttacttccttcattt	3	23	5	10	1	4	0	2	0	2	0	6	0	6	0	2	1	2	2	2	1	1	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:27335415T>C	ENST00000376087.4	-	18	2017	c.1852A>G	c.(1852-1854)Act>Gct	p.T618A	ANKRD26_ENST00000376070.3_Missense_Mutation_p.T175A|ANKRD26_ENST00000436985.2_Missense_Mutation_p.T634A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	617						centrosome				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						TCTTTTTCAGTGCTCTTTACT	0.393													16	44					0	0	0	0	C	27335415	T	C	27335415	3	2	408	1	0	0	0	0	1	0	0	0	654	1696	59	5	3348	5	ANKRD26	10	27335415	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2613339	27335415	108199332	2016	79834											
ACBD5	91452	broad.mit.edu	37	chr10	27529294	27529294	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacggccgcctcaaacctAgtctcgtgcacggatctcgt	7	10	9	15	5	4	0	2	0	2	0	6	1	4	1	3	2	2	1	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:27529294A>G	ENST00000396271.3	-	2	261	c.135T>C	c.(133-135)acT>acC	p.T45T	ACBD5_ENST00000375888.1_Silent_p.T43T|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.T10T	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	43	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTCAAACCTAGTCTCGTGCA	0.632													17	81					0	0	0	0	G	27529294	A	G	27529294	2	3	408	1	0	0	0	0	0	0	0	1	125	407	15	5		5	ACBD5	10	27529294	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	193879	27529294	108005453	2017	79835											
WAC	51322	broad.mit.edu	37	chr10	28824585	28824585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaccaccaaataaaaTgttgcggagatctgatagtc	13	11	7	10	1	2	2	1	1	1	1	4	3	3	2	3	1	1	1	3	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:28824585T>C	ENST00000375664.3	+	3	647	c.38T>C	c.(37-39)aTg>aCg	p.M13T	WAC_ENST00000428935.1_Missense_Mutation_p.M13T|WAC_ENST00000347934.4_Missense_Mutation_p.M58T|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375646.1_Missense_Mutation_p.M13T|WAC_ENST00000354911.4_Missense_Mutation_p.M58T			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	58					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCAAATAAAATGTTGCGGAGA	0.453													29	77					0	0	0	0	C	28824585	T	C	28824585	3	2	408	1	0	0	0	0	1	0	0	0	17343	1464	51	5	183	5	WAC	10	28824585	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1295291	28824585	106710162	2018	79836											
MTPAP	55149	broad.mit.edu	37	chr10	30602795	30602795	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcgggccaaatctacaaAtttttgcagctggctttgac	9	14	8	10	1	2	1	0	1	2	0	3	1	2	1	1	2	3	3	1	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:30602795A>T	ENST00000358107.4	-	10	1881	c.1882T>A	c.(1882-1884)Ttt>Att	p.F628I	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.F498I			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	498					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AAATCTACAAATTTTTGCAGC	0.418													29	80					0	0	0	0	T	30602795	A	T	30602795	3	4	408	1	0	0	0	0	1	0	0	0	10026	101	4	5	260	5	MTPAP	10	30602795	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1778210	30602795	104931952	2019	79837											
ZEB1	6935	broad.mit.edu	37	chr10	31816166	31816166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagagtagtgagcaagtgTctgaagaaaagacaaatgaa	18	6	13	4	1	1	6	0	3	1	3	1	7	1	6	0	0	1	2	0	0	7	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:31816166T>C	ENST00000446923.2	+	9	3692	c.3301T>C	c.(3301-3303)Tct>Cct	p.S1101P	ZEB1_ENST00000361642.5_Missense_Mutation_p.S1118P|ZEB1_ENST00000560721.2_Missense_Mutation_p.S1097P|ZEB1_ENST00000542815.3_Missense_Mutation_p.S1050P|ZEB1_ENST00000320985.10_Missense_Mutation_p.S1117P	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1117	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAGCAAGTGTCTGAAGAAAA	0.373													16	35					0	0	0	0	C	31816166	T	C	31816166	3	2	408	1	0	0	0	0	1	0	0	0	17718	1667	58	5	3397	5	ZEB1	10	31816166	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1213371	31816166	103718581	2020	79838											
PARD3	56288	broad.mit.edu	37	chr10	34666942	34666942	+	Frame_Shift_Del	DEL	C	C	-																															tcggccatcctgaatggccgCcccccgggggagaatgtttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:34666942delC	ENST00000374789.3	-	10	1817	c.1492delG	c.(1492-1494)cgfs	p.A499fs	PARD3_ENST00000374788.3_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.A455fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.A455fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.A499fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.A499fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.A229fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.A455fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	499	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGAATGGCCGCCCCCCGGGGG	0.483													49	177	---	---	---	---					-	34666942	C	-	34666942	7	5	408	1	0	1	0	1	0	0	0	0	11514	739	26	0	2677	0	PARD3	10	34666942	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	2850776	34666942	100867805	2021	79839											
PARD3	56288	broad.mit.edu	37	chr10	34671726	34671726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtcagggctaaaacGgcttgaatagtaattgttct	10	13	11	7	1	2	1	1	1	1	0	2	1	2	1	0	3	1	5	0	3	5	6	rs148582124		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:34671726G>A	ENST00000374789.3	-	9	1466	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	PARD3_ENST00000340077.5_Missense_Mutation_p.R381C|PARD3_ENST00000350537.4_Missense_Mutation_p.R381C|PARD3_ENST00000545260.1_Missense_Mutation_p.R337C|PARD3_ENST00000545693.1_Missense_Mutation_p.R381C|PARD3_ENST00000544292.1_Missense_Mutation_p.R111C|PARD3_ENST00000374773.1_Missense_Mutation_p.R381C|PARD3_ENST00000374788.3_Missense_Mutation_p.R381C|PARD3_ENST00000374794.3_Missense_Mutation_p.R337C|PARD3_ENST00000374776.1_Missense_Mutation_p.R381C|PARD3_ENST00000374790.3_Missense_Mutation_p.R337C|PARD3_ENST00000346874.4_Missense_Mutation_p.R381C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGGCTAAAACGGCTTGAATAG	0.488													4	131					0	0	0	0	A	34671726	G	A	34671726	3	1	408	1	0	0	0	0	1	0	0	0	11514	1116	39	1	3032	1	PARD3	10	34671726	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4784	34671726	100863021	2022	79840											
CUL2	8453	broad.mit.edu	37	chr10	35351986	35351986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccacacataaagcatagaTatctctagttaaattattaa	17	12	5	7	0	1	1	0	0	1	1	2	1	1	1	1	1	1	2	1	1	9	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:35351986T>C	ENST00000374748.1	-	4	437	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	CUL2_ENST00000602371.1_De_novo_Start_InFrame|CUL2_ENST00000374751.3_Missense_Mutation_p.I42V|CUL2_ENST00000537177.1_Missense_Mutation_p.I61V|CUL2_ENST00000374749.3_Missense_Mutation_p.I42V|CUL2_ENST00000374742.1_Missense_Mutation_p.I42V|CUL2_ENST00000374746.1_Missense_Mutation_p.I42V			Q13617	CUL2_HUMAN	cullin 2	42					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAAGCATAGATATCTCTAGTT	0.294													10	40					0	0	0	0	C	35351986	T	C	35351986	3	2	408	1	0	0	0	0	1	0	0	0	4087	1406	49	5	2189	5	CUL2	10	35351986	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	680260	35351986	100182761	2023	79841											
FZD8	8325	broad.mit.edu	37	chr10	35929076	35929076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcttcgttgccccactTcataccggccgccaggaacc	7	8	10	16	3	1	0	1	0	0	0	2	2	1	1	6	3	3	2	6	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:35929076T>C	ENST00000374694.1	-	1	1286	c.1282A>G	c.(1282-1284)Aag>Gag	p.K428E		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	428					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TTGCCCCACTTCATACCGGCC	0.622													13	23					0	0	0	0	C	35929076	T	C	35929076	3	2	408	1	0	0	0	0	1	0	0	0	6184	1792	62	5	806	5	FZD8	10	35929076	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	577090	35929076	99605671	2024	79842											
ZNF37A	7587	broad.mit.edu	37	chr10	38406835	38406835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgagtgtggaacatttttCagtgaaaaattagtccttca	14	14	8	5	0	2	2	2	2	0	0	3	3	3	3	1	1	1	0	1	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:38406835C>T	ENST00000351773.3	+	8	1586	c.756C>T	c.(754-756)ttC>ttT	p.F252F	ZNF37A_ENST00000361085.4_Silent_p.F252F	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	252						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACATTTTTCAGTGAAAAAT	0.358													4	109					0	0	0	0	T	38406835	C	T	38406835	2	4	408	1	0	0	0	0	0	0	0	1	17967	825	29	2		2	ZNF37A	10	38406835	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2477759	38406835	97127912	2025	79843											
RET	5979	broad.mit.edu	37	chr10	43596084	43596084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacacggctgcatgagaacaActggatctgcatccaggagg	12	6	12	11	1	1	1	0	1	1	1	2	4	2	3	1	4	4	3	1	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:43596084A>G	ENST00000355710.3	+	2	483	c.251A>G	c.(250-252)aAc>aGc	p.N84S	RET_ENST00000340058.5_Missense_Mutation_p.N84S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	84					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CATGAGAACAACTGGATCTGC	0.637		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				8	25					0	0	0	0	G	43596084	A	G	43596084	3	3	408	1	0	0	0	0	1	0	0	0	13317	43	2	5	257	5	RET	10	43596084	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5189249	43596084	91938663	2026	79844											
RET	5979	broad.mit.edu	37	chr10	43606836	43606836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagtgtgccgaacttcActacatggtggtggccaccg	8	8	12	13	2	1	0	1	0	0	0	1	1	1	0	4	3	3	0	4	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:43606836A>G	ENST00000355710.3	+	7	1677	c.1445A>G	c.(1444-1446)cAc>cGc	p.H482R	RET_ENST00000340058.5_Missense_Mutation_p.H482R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	482					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCCGAACTTCACTACATGGTG	0.632		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				4	76					0	0	0	0	G	43606836	A	G	43606836	3	3	408	1	0	0	0	0	1	0	0	0	13317	159	6	5	1471	5	RET	10	43606836	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	10752	43606836	91927911	2027	79845											
GPRIN2	9721	broad.mit.edu	37	chr10	46998978	46998978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgctgggtgaaggccGggaacagaggccagagctcc	9	4	16	12	1	0	3	0	1	0	2	1	4	1	4	4	4	4	2	4	4	2	0	rs151134434	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:46998978G>A	ENST00000374314.4	+	1	1053	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	GPRIN2_ENST00000374317.1_Missense_Mutation_p.R33Q			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	33										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTGAAGGCCGGGAACAGAGG	0.721													24	84					0	0	0	0	A	46998978	G	A	46998978	3	1	408	1	0	0	0	0	1	0	0	0	6780	1116	39	1	100	1	GPRIN2	10	46998978	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3392142	46998978	88535769	2028	79846											
RBP3	5949	broad.mit.edu	37	chr10	48387850	48387850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcacaattccaggaatgcGgtccttggcattctcaggga	9	9	13	10	1	1	0	1	0	1	0	4	2	3	2	2	5	1	2	2	5	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:48387850G>A	ENST00000224600.4	-	1	3141	c.3028C>T	c.(3028-3030)Cgc>Tgc	p.R1010C		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1010	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGGAATGCGGTCCTTGGCA	0.602													30	107					0	0	0	0	A	48387850	G	A	48387850	3	1	408	1	0	0	0	0	1	0	0	0	13239	1116	39	1	731	1	RBP3	10	48387850	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1388872	48387850	87146897	2029	79847											
GDF10	2662	broad.mit.edu	37	chr10	48428793	48428793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccactgcttcctccgggCtttctgcatcgtcttctcgt	3	15	7	16	3	3	0	0	0	3	0	8	0	6	0	3	1	2	3	3	1	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:48428793C>T	ENST00000224605.2	-	2	1358	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	365					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTCCTCCGGGCTTTCTGCATC	0.597													25	66					0	0	0	0	T	48428793	C	T	48428793	3	4	408	1	0	0	0	0	1	0	0	0	6362	797	28	4	351	4	GDF10	10	48428793	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	40943	48428793	87105954	2030	79848											
GDF10	2662	broad.mit.edu	37	chr10	48429034	48429034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggcgcacgcgggggtcCgctgagttgttgggggctgc	2	8	20	11	5	0	1	0	1	0	0	2	1	1	1	1	5	1	6	1	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:48429034C>T	ENST00000224605.2	-	2	1117	c.852G>A	c.(850-852)gcG>gcA	p.A284A		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	284					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGCGGGGGTCCGCTGAGTTGT	0.726													9	23					0	0	0	0	T	48429034	C	T	48429034	2	4	408	1	0	0	0	0	0	0	0	1	6362	639	23	1		1	GDF10	10	48429034	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	241	48429034	87105713	2031	79849											
FRMPD2	143162	broad.mit.edu	37	chr10	49444587	49444587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaacaggatgaactctgGcctggaaaactggaggaaaa	16	5	12	8	0	1	1	0	1	1	0	1	5	1	5	2	5	4	0	2	5	6	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:49444587G>A	ENST00000374201.3	-	9	1233	c.931C>T	c.(931-933)Cca>Tca	p.P311S	FRMPD2_ENST00000305531.3_Missense_Mutation_p.P287S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P280S	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	311					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATGAACTCTGGCCTGGAAAAC	0.562													23	63					0	0	0	0	A	49444587	G	A	49444587	3	1	408	1	0	0	0	0	1	0	0	0	6106	1203	42	4	3082	4	FRMPD2	10	49444587	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1015553	49444587	86090160	2032	79850											
C10orf71	118461	broad.mit.edu	37	chr10	50531538	50531538	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgctaagagaaccctgTcctcctgagcgcacagtctc	9	9	8	15	1	1	2	0	1	1	1	4	3	3	2	4	0	3	2	4	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:50531538T>C	ENST00000374144.3	+	3	1236	c.948T>C	c.(946-948)tgT>tgC	p.C316C	C10orf71_ENST00000323868.4_Silent_p.C316C			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	316										endometrium(1)	1						GAGAACCCTGTCCTCCTGAGC	0.572													4	44					0	0	0	0	C	50531538	T	C	50531538	2	2	408	1	0	0	0	0	0	0	0	1	1624	1673	58	5		5	C10orf71	10	50531538	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1086951	50531538	85003209	2033	79851											
SLC18A3	6572	broad.mit.edu	37	chr10	50819857	50819857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctacccacacctgcagtgGctgtacggcgcgcttgggct	5	8	13	15	4	0	0	0	0	0	0	0	0	0	0	2	3	3	6	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:50819857G>T	ENST00000374115.3	+	1	1511	c.1071G>T	c.(1069-1071)tgG>tgT	p.W357C	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	357					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACCTGCAGTGGCTGTACGGCG	0.692													37	108					2.19358e-23	2.3201e-23	1	0	T	50819857	G	T	50819857	3	4	408	1	0	0	0	0	1	0	0	0	14515	1212	42	4	1073	4	SLC18A3	10	50819857	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	288319	50819857	84714890	2034	79852											
NCOA4	8031	broad.mit.edu	37	chr10	51579242	51579242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcttgctattggtggagTtctccgggctgaacagcaaa	9	10	14	8	1	1	1	0	1	1	0	2	3	1	3	1	4	4	5	1	4	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:51579242T>C	ENST00000452682.1	+	3	401	c.149T>C	c.(148-150)gTt>gCt	p.V50A	NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.V34A|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000443446.1_Missense_Mutation_p.V34A|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000438493.1_Missense_Mutation_p.V50A|NCOA4_ENST00000374087.4_Missense_Mutation_p.V34A|NCOA4_ENST00000374082.1_Missense_Mutation_p.V34A	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	34					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATTGGTGGAGTTCTCCGGGCT	0.478			T	RET	papillary thyroid								49	163					0	0	0	0	C	51579242	T	C	51579242	3	2	408	1	0	0	0	0	1	0	0	0	10301	1725	60	5	155	5	NCOA4	10	51579242	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	759385	51579242	83955505	2035	79853											
AGAP6	414189	broad.mit.edu	37	chr10	51754188	51754188	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcaactgtacaaaccAtgtaagtaaacactcaaata	21	7	5	8	0	1	1	1	0	0	1	1	1	1	1	1	0	5	4	1	0	10	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:51754188A>G	ENST00000374056.4	+	3	724	c.327_splice	c.e3+1	p.H109_splice	AGAP6_ENST00000412531.3_Splice_Site_p.H132_splice			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H132R(4)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGTACAAACCATGTAAGTAAA	0.299													4	58					0	0	0	0	G	51754188	A	G	51754188	5	3	408	1	0	0	0	0	0	0	1	0	372	231	8	5	409	5	AGAP6	10	51754188	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	174946	51754188	83780559	2036	79854											
A1CF	29974	broad.mit.edu	37	chr10	52566593	52566593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagggttaccgcttgctTgagctgggctgcagacacgg	7	9	14	11	2	0	2	0	1	0	1	1	2	1	2	2	3	4	6	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:52566593T>C	ENST00000395489.2	-	15	2056	c.1660A>G	c.(1660-1662)Aag>Gag	p.K554E	A1CF_ENST00000395495.1_Missense_Mutation_p.K506E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.K553E|A1CF_ENST00000373995.3_Missense_Mutation_p.K561E|A1CF_ENST00000374001.1_Missense_Mutation_p.K553E|A1CF_ENST00000282641.2_Missense_Mutation_p.K561E|A1CF_ENST00000373993.1_Missense_Mutation_p.K561E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	561					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ACCGCTTGCTTGAGCTGGGCT	0.498													33	95					0	0	0	0	C	52566593	T	C	52566593	3	2	408	1	0	0	0	0	1	0	0	0	2	1821	63	5	107	5	A1CF	10	52566593	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	812405	52566593	82968154	2037	79855											
SLC16A9	220963	broad.mit.edu	37	chr10	61412691	61412691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatatcataggtctgggTccagtcataaaaccaacctg	13	10	8	10	0	3	0	2	0	1	0	4	0	4	0	3	2	3	1	3	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:61412691T>C	ENST00000395348.3	-	6	2005	c.1369A>G	c.(1369-1371)Acc>Gcc	p.T457A	SLC16A9_ENST00000395347.1_Missense_Mutation_p.T457A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	457					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAGGTCTGGGTCCAGTCATAA	0.398													9	86					0	0	0	0	C	61412691	T	C	61412691	3	2	408	1	0	0	0	0	1	0	0	0	14503	1667	58	5	164	5	SLC16A9	10	61412691	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	8846098	61412691	74122056	2038	79856											
ANK3	288	broad.mit.edu	37	chr10	61815451	61815451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggacccctcttcttcatGgaggctaagccttggcttgc	6	12	10	13	0	3	0	1	0	2	0	3	2	3	2	3	4	2	2	3	4	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:61815451G>T	ENST00000280772.1	-	42	13221	c.13030C>A	c.(13030-13032)Cat>Aat	p.H4344N	ANK3_ENST00000355288.2_Missense_Mutation_p.H968N|ANK3_ENST00000503366.1_Missense_Mutation_p.H1835N|ANK3_ENST00000373827.2_Missense_Mutation_p.H1828N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4344					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTCTTCATGGAGGCTAAGC	0.468													81	252					1.72036e-36	1.82387e-36	1	0	T	61815451	G	T	61815451	3	4	408	1	0	0	0	0	1	0	0	0	622	1348	47	4	111	4	ANK3	10	61815451	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	402760	61815451	73719296	2039	79857											
ANK3	288	broad.mit.edu	37	chr10	61898753	61898753	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccgagactaaagcccaTgtaaccctctgcaggcaggg	10	6	11	14	2	1	1	0	0	1	1	2	2	2	1	3	2	3	4	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:61898753T>C	ENST00000280772.1	-	24	2898	c.2707A>G	c.(2707-2709)Atg>Gtg	p.M903V	ANK3_ENST00000355288.2_Missense_Mutation_p.M37V|ANK3_ENST00000503366.1_Missense_Mutation_p.M904V|ANK3_ENST00000460468.1_Missense_Mutation_p.M67V|ANK3_ENST00000373827.2_Missense_Mutation_p.M897V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	903					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTAAAGCCCATGTAACCCTCT	0.448													29	110					0	0	0	0	C	61898753	T	C	61898753	3	2	408	1	0	0	0	0	1	0	0	0	622	1464	51	5	10819	5	ANK3	10	61898753	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	83302	61898753	73635994	2040	79858											
RHOBTB1	9886	broad.mit.edu	37	chr10	62634740	62634740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaagtaagagagcactTctccgtcaatgcccacgcca	12	8	7	14	2	2	1	1	0	1	1	4	2	3	1	4	0	2	2	4	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:62634740T>C	ENST00000337910.5	-	9	2124	c.1787A>G	c.(1786-1788)gAa>gGa	p.E596G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E596G|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	596					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGAGAGCACTTCTCCGTCAAT	0.463													26	96					0	0	0	0	C	62634740	T	C	62634740	3	2	408	1	0	0	0	0	1	0	0	0	13416	1783	62	5	315	5	RHOBTB1	10	62634740	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	735987	62634740	72900007	2041	79859											
EGR2	1959	broad.mit.edu	37	chr10	64573155	64573155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtggatcttggtgtggcGcttcctctcatcactccggg	4	12	13	12	2	3	0	2	0	2	0	6	1	5	1	2	5	0	1	2	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:64573155G>A	ENST00000242480.3	-	2	1568	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	EGR2_ENST00000411732.1_Missense_Mutation_p.R365C|EGR2_ENST00000439032.1_Missense_Mutation_p.R415C	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	415					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTGGTGTGGCGCTTCCTCTCA	0.612													23	124					0	0	0	0	A	64573155	G	A	64573155	3	1	408	1	0	0	0	0	1	0	0	0	5008	1087	38	1	191	1	EGR2	10	64573155	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1938415	64573155	70961592	2042	79860											
REEP3	221035	broad.mit.edu	37	chr10	65358936	65358936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttttcccccaggagattGatgattatattgtacaagca	11	14	8	8	0	0	3	0	2	0	1	1	4	1	3	2	1	2	3	2	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:65358936G>C	ENST00000373758.4	+	5	493	c.310G>C	c.(310-312)Gat>Cat	p.D104H	REEP3_ENST00000298249.4_Missense_Mutation_p.D89H	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	104						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCAGGAGATTGATGATTATAT	0.378													15	48					0	0	0	0	C	65358936	G	C	65358936	3	2	408	1	0	0	0	0	1	0	0	0	13288	1290	45	2	328	2	REEP3	10	65358936	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	785781	65358936	70175811	2043	79861											
DDX21	9188	broad.mit.edu	37	chr10	70719971	70719971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggactgtaaccccagtgaagCtgccagtgaagaaagtaaca	15	6	11	9	0	0	3	0	2	0	1	0	4	0	4	3	1	4	3	3	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:70719971C>T	ENST00000354185.4	+	2	595	c.497C>T	c.(496-498)gCt>gTt	p.A166V		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	166						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAGTGAAGCTGCCAGTGAA	0.393													8	97					0	0	0	0	T	70719971	C	T	70719971	3	4	408	1	0	0	0	0	1	0	0	0	4381	797	28	4	503	4	DDX21	10	70719971	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5361035	70719971	64814776	2044	79862											
DDX21	9188	broad.mit.edu	37	chr10	70741317	70741317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgctttgatgtacctaccGcatcagtaacagaaatacag	13	12	7	9	1	1	2	1	1	0	1	1	2	1	2	2	0	5	4	2	0	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:70741317G>A	ENST00000354185.4	+	14	2160	c.2062G>A	c.(2062-2064)Gca>Aca	p.A688T		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	688						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTACCTACCGCATCAGTAAC	0.318													14	51					0	0	0	0	A	70741317	G	A	70741317	3	1	408	1	0	0	0	0	1	0	0	0	4381	1087	38	1	2116	1	DDX21	10	70741317	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	21346	70741317	64793430	2045	79863											
VPS26A	9559	broad.mit.edu	37	chr10	70922189	70922189	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggatgtgattgttggAaaaatttacttcttattagt	13	18	8	2	0	1	1	0	1	1	0	1	3	1	3	0	2	1	1	0	2	7	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:70922189A>G	ENST00000373382.1	+	7	1232	c.579A>G	c.(577-579)ggA>ggG	p.G193G	VPS26A_ENST00000263559.6_Silent_p.G193G|VPS26A_ENST00000546041.1_Silent_p.G176G|VPS26A_ENST00000489794.1_Silent_p.G168G|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_Silent_p.G82G|VPS26A_ENST00000395098.1_Silent_p.G193G			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	193					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TGATTGTTGGAAAAATTTACT	0.294													9	28					0	0	0	0	G	70922189	A	G	70922189	2	3	408	1	0	0	0	0	0	0	0	1	17293	233	9	5		5	VPS26A	10	70922189	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	180872	70922189	64612558	2046	79864											
TACR2	6865	broad.mit.edu	37	chr10	71164842	71164842	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaatccagagcgaaaccTgggggagcgaggggcacctt	10	4	16	11	3	0	1	0	0	0	1	1	5	1	3	4	5	3	1	4	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71164842T>C	ENST00000373306.4	-	5	1482		c.e5-2		TACR2_ENST00000373307.1_Splice_Site	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2						excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAGCGAAACCTGGGGGAGCGA	0.617													16	54					0	0	0	0	C	71164842	T	C	71164842	5	2	408	1	0	0	0	0	0	0	1	0	15597	1594	55	5	263	5	TACR2	10	71164842	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	242653	71164842	64369905	2047	79865											
NEUROG3	50674	broad.mit.edu	37	chr10	71332389	71332389	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtccgctatgcgcagcgtTtgagtcagcgcccagatgta	7	10	13	11	4	1	2	1	1	0	1	2	2	2	2	2	1	3	4	2	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71332389T>C	ENST00000242462.4	-	2	440	c.411A>G	c.(409-411)caA>caG	p.Q137Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	137					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TGCGCAGCGTTTGAGTCAGCG	0.692													19	62					0	0	0	0	C	71332389	T	C	71332389	2	2	408	1	0	0	0	0	0	0	0	1	10424	1838	64	5		5	NEUROG3	10	71332389	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	167547	71332389	64202358	2048	79866											
NEUROG3	50674	broad.mit.edu	37	chr10	71332448	71332448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcgatcttggtgagctTcgcgtcgtctgggaaggtgg	4	12	16	9	5	3	1	0	1	3	0	6	3	3	2	0	4	1	1	0	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71332448T>C	ENST00000242462.4	-	2	381	c.352A>G	c.(352-354)Aag>Gag	p.K118E		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	118	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TTGGTGAGCTTCGCGTCGTCT	0.627													19	63					0	0	0	0	C	71332448	T	C	71332448	3	2	408	1	0	0	0	0	1	0	0	0	10424	1792	62	5	296	5	NEUROG3	10	71332448	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	59	71332448	64202299	2049	79867											
H2AFY2	55506	broad.mit.edu	37	chr10	71851566	71851566	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcccagaattcacccCgaactgctggccaaaaagcg	11	6	9	15	2	1	1	1	0	0	1	2	2	2	1	5	1	4	1	5	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71851566C>T	ENST00000373255.4	+	4	597	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	111	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GAATTCACCCCGAACTGCTGG	0.557													21	86					0	0	0	0	T	71851566	C	T	71851566	2	4	408	1	0	0	0	0	0	0	0	1	6980	639	23	1		1	H2AFY2	10	71851566	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	519118	71851566	63683181	2050	79868											
SAR1A	56681	broad.mit.edu	37	chr10	71912253	71912253	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtcaatatactgggagagCcagcggaaaccctcgccgta	12	6	11	12	3	1	1	1	0	0	1	2	3	1	2	3	2	4	1	3	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71912253C>T	ENST00000373238.1	-	7	933	c.576G>A	c.(574-576)tgG>tgA	p.W192*	SAR1A_ENST00000373241.4_Nonsense_Mutation_p.W192*|SAR1A_ENST00000458634.2_Nonsense_Mutation_p.W149*|SAR1A_ENST00000373242.1_Nonsense_Mutation_p.W192*|SAR1A_ENST00000431664.2_Nonsense_Mutation_p.W192*			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	192					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACTGGGAGAGCCAGCGGAAAC	0.463													15	61					0	0	0	0	T	71912253	C	T	71912253	4	4	408	1	0	0	0	0	0	1	0	0	13925	740	26	4	24	4	SAR1A	10	71912253	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	60687	71912253	63622494	2051	79869											
CHST3	9469	broad.mit.edu	37	chr10	73767557	73767557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctgcggccccctcaaCgtgacgctggccgcagaggc	5	4	14	18	6	1	2	1	1	0	1	1	2	1	2	4	3	2	3	4	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:73767557C>T	ENST00000373115.4	+	3	1205	c.768C>T	c.(766-768)aaC>aaT	p.N256N		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	256					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCCCCCTCAACGTGACGCTGG	0.682													8	18					0	0	0	0	T	73767557	C	T	73767557	2	4	408	1	0	0	0	0	0	0	0	1	3434	535	19	1		1	CHST3	10	73767557	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1855304	73767557	61767190	2052	79870											
DNAJB12	54788	broad.mit.edu	37	chr10	74104736	74104736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaacctgttctgcagTgtagcctttggtgctctctc	5	14	10	12	0	2	0	0	0	2	0	4	0	2	0	2	1	6	6	2	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:74104736T>C	ENST00000338820.3	-	2	534	c.385A>G	c.(385-387)Act>Gct	p.T129A	DNAJB12_ENST00000394903.2_Missense_Mutation_p.T129A|DNAJB12_ENST00000461919.1_Intron|DNAJB12_ENST00000444643.2_Missense_Mutation_p.T95A	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	95	J.				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						TGTTCTGCAGTGTAGCCTTTG	0.607													126	411					0	0	0	0	C	74104736	T	C	74104736	3	2	408	1	0	0	0	0	1	0	0	0	4653	1696	59	5	872	5	DNAJB12	10	74104736	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	337179	74104736	61430011	2053	79871											
P4HA1	5033	broad.mit.edu	37	chr10	74770751	74770751	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccaaacactagctccAacttcaggaaaaacagtggc	14	7	9	11	0	1	0	1	0	0	0	2	1	2	1	2	3	4	1	2	3	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:74770751A>G	ENST00000412021.2	-	14	1746	c.1413T>C	c.(1411-1413)gtT>gtC	p.V471V	P4HA1_ENST00000263556.3_Silent_p.V471V|P4HA1_ENST00000440381.1_Silent_p.V453V|P4HA1_ENST00000307116.2_Silent_p.V471V|P4HA1_ENST00000373008.2_Silent_p.V471V|P4HA1_ENST00000394890.2_Silent_p.V471V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	471	Fe2OG dioxygenase.					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACTAGCTCCAACTTCAGGAA	0.373													21	70					0	0	0	0	G	74770751	A	G	74770751	2	3	408	1	0	0	0	0	0	0	0	1	11427	117	5	5		5	P4HA1	10	74770751	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	666015	74770751	60763996	2054	79872											
TTC18	118491	broad.mit.edu	37	chr10	75058827	75058827	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctagaatggctctagaaatAttcttgatctgtatgtggta	11	16	9	5	0	4	3	0	1	4	2	4	3	4	3	0	2	0	3	0	2	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:75058827A>T	ENST00000310715.3	-	15	1680	c.1560T>A	c.(1558-1560)aaT>aaA	p.N520K	TTC18_ENST00000394865.1_Missense_Mutation_p.N520K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.N520K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	520							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCTAGAAATATTCTTGATCT	0.413													22	50					0	0	0	0	T	75058827	A	T	75058827	3	4	408	1	0	0	0	0	1	0	0	0	16781	446	16	5	1861	5	TTC18	10	75058827	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	288076	75058827	60475920	2055	79873											
USP54	159195	broad.mit.edu	37	chr10	75277428	75277428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaatggaagaaagaactgGccccaaactctgtatccatg	14	8	10	9	0	1	3	0	1	1	2	2	4	2	4	3	2	2	1	3	2	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:75277428G>A	ENST00000339859.4	-	19	2856	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	USP54_ENST00000408019.1_Missense_Mutation_p.A919V|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.A769V|USP54_ENST00000394811.2_Missense_Mutation_p.A7V|USP54_ENST00000422491.2_Missense_Mutation_p.A101V|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	919					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GAAAGAACTGGCCCCAAACTC	0.517													24	54					0	0	0	0	A	75277428	G	A	75277428	3	1	408	1	0	0	0	0	1	0	0	0	17181	1203	42	4	2318	4	USP54	10	75277428	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	218601	75277428	60257319	2056	79874											
PLAU	5328	broad.mit.edu	37	chr10	75673438	75673438	+	Frame_Shift_Del	DEL	G	G	-																															ggccatctacaggaggcaccGggggggctctgtcacctacg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:75673438delG	ENST00000446342.1	+	6	1033	c.551delG	c.(550-552)cgfs	p.R184fs	PLAU_ENST00000372762.4_Frame_Shift_Del_p.R165fs|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Frame_Shift_Del_p.R201fs|PLAU_ENST00000494287.1_3'UTR	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	201	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGGAGGCACCGGGGGGGCTCT	0.587													48	191	---	---	---	---					-	75673438	G	-	75673438	7	5	408	1	0	1	0	1	0	0	0	0	12094	1116	39	0	662	0	PLAU	10	75673438	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	396010	75673438	59861309	2057	79875											
DUPD1	338599	broad.mit.edu	37	chr10	76803760	76803760	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttctgcagcctatagcgGtccagcgccgtcgccctggg	4	8	13	16	4	1	0	0	0	1	0	3	0	2	0	5	2	4	1	5	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:76803760G>A	ENST00000338487.5	-	2	215	c.216C>T	c.(214-216)gaC>gaT	p.D72D		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	72	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTATAGCGGTCCAGCGCCG	0.701													23	60					0	0	0	0	A	76803760	G	A	76803760	2	1	408	1	0	0	0	0	0	0	0	1	4840	1252	44	4		4	DUPD1	10	76803760	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1130322	76803760	58730987	2058	79876											
DLG5	9231	broad.mit.edu	37	chr10	79581222	79581222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggtgtcagaggccccGccctcttggagggctgggga	4	8	19	10	1	2	1	1	0	1	1	2	3	2	3	3	7	0	1	3	7	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:79581222G>A	ENST00000372391.2	-	15	3025	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1007	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGAGGCCCCGCCCTCTTGGA	0.592													42	102					0	0	0	0	A	79581222	G	A	79581222	3	1	408	1	0	0	0	0	1	0	0	0	4595	1087	38	1	2811	1	DLG5	10	79581222	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2777462	79581222	55953525	2059	79877											
POLR3A	11128	broad.mit.edu	37	chr10	79782066	79782066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggctttccggcttctgggTtcatcagaagtagaggaaca	10	10	12	9	2	3	2	2	0	1	2	4	3	4	3	1	4	1	4	1	4	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:79782066T>C	ENST00000372371.3	-	6	859	c.722A>G	c.(721-723)aAc>aGc	p.N241S		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	241					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGCTTCTGGGTTCATCAGAAG	0.438													21	45					0	0	0	0	C	79782066	T	C	79782066	3	2	408	1	0	0	0	0	1	0	0	0	12300	1725	60	5	3554	5	POLR3A	10	79782066	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	200844	79782066	55752681	2060	79878											
ZMIZ1	57178	broad.mit.edu	37	chr10	81053160	81053160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtcccacccaggcgtataAcagccaattcatgaaccagc	12	6	9	14	1	1	1	1	1	0	0	2	1	2	1	4	2	4	1	4	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:81053160A>G	ENST00000334512.5	+	12	1552	c.980A>G	c.(979-981)aAc>aGc	p.N327S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	327					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGGCGTATAACAGCCAATTC	0.577													6	315					0	0	0	0	G	81053160	A	G	81053160	3	3	408	1	0	0	0	0	1	0	0	0	17791	43	2	5	1010	5	ZMIZ1	10	81053160	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1271094	81053160	54481587	2061	79879											
SH2D4B	387694	broad.mit.edu	37	chr10	82363435	82363435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctatccagaagggcacGgtcgctggcctcagctccat	7	8	12	14	3	1	1	1	0	0	1	4	1	3	1	3	3	2	4	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:82363435G>A	ENST00000339284.2	+	5	1174	c.744G>A	c.(742-744)acG>acA	p.T248T	SH2D4B_ENST00000313455.4_Silent_p.T199T|SH2D4B_ENST00000470604.2_Silent_p.T247T	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	247										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AGAAGGGCACGGTCGCTGGCC	0.692													6	28					0	0	0	0	A	82363435	G	A	82363435	2	1	408	1	0	0	0	0	0	0	0	1	14323	1103	39	1		1	SH2D4B	10	82363435	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1310275	82363435	53171312	2062	79880											
LRIT1	26103	broad.mit.edu	37	chr10	85991728	85991728	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccctttgactccaaaGgcctgaaagtccacactgga	10	8	8	15	0	0	2	0	2	0	0	2	3	2	3	5	2	1	0	5	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:85991728G>T	ENST00000372105.3	-	4	1848	c.1827C>A	c.(1825-1827)gcC>gcA	p.A609A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	609						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGACTCCAAAGGCCTGAAAGT	0.577													8	28					0.000157383	0.00015972	1	0	T	85991728	G	T	85991728	2	4	408	1	0	0	0	0	0	0	0	1	9011	987	35	4		4	LRIT1	10	85991728	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3628293	85991728	49543019	2063	79881											
LRIT1	26103	broad.mit.edu	37	chr10	85992579	85992579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcttggcttggcagatgtAgtctccggagtcaaggtggg	6	12	16	7	1	3	1	1	0	2	1	4	2	3	2	1	5	0	4	1	5	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:85992579A>G	ENST00000372105.3	-	4	997	c.976T>C	c.(976-978)Tac>Cac	p.Y326H		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	326	Ig-like C2-type.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGGCAGATGTAGTCTCCGGAG	0.567													12	28					0	0	0	0	G	85992579	A	G	85992579	3	3	408	1	0	0	0	0	1	0	0	0	9011	420	15	5	899	5	LRIT1	10	85992579	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	851	85992579	49542168	2064	79882											
GRID1	2894	broad.mit.edu	37	chr10	87379725	87379725	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcaccgagcagtcgtcAtccgtcagggctgcgtattc	8	9	11	13	4	3	0	3	0	0	0	6	1	4	0	2	1	2	3	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:87379725A>G	ENST00000327946.7	-	14	2344	c.2259T>C	c.(2257-2259)gaT>gaC	p.D753D	GRID1_ENST00000536331.1_Silent_p.D324D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	753						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCAGTCGTCATCCGTCAGGG	0.562										Multiple Myeloma(13;0.14)			20	59					0	0	0	0	G	87379725	A	G	87379725	2	3	408	1	0	0	0	0	0	0	0	1	6821	214	8	5		5	GRID1	10	87379725	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1387146	87379725	48155022	2065	79883											
AGAP11	119385	broad.mit.edu	37	chr10	88753124	88753124	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaatgaataggactcAggatttgaagacaaaaaagc	17	12	8	4	0	1	3	1	2	0	1	1	5	1	5	0	2	1	0	0	2	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:88753124A>G	ENST00000444431.1	+	0	70				RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AATAGGACTCAGGATTTGAAG	0.348													20	56					0	0	0	0	G	88753124	A	G	88753124	1	3	408	0	1	0	0	0	0	0	0	0	367	203	7	5		5	AGAP11	10	88753124	RNA	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1373399	88753124	46781623	2066	79884											
IFIT5	24138	broad.mit.edu	37	chr10	91178053	91178053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttccggaaagctcttcGtctggagaacataaccgatg	11	11	9	10	3	2	1	0	0	2	1	4	4	3	2	2	2	3	1	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:91178053G>A	ENST00000371795.4	+	2	1310	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	IFIT5_ENST00000416601.1_Missense_Mutation_p.R318H	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	366							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AAAGCTCTTCGTCTGGAGAAC	0.453													24	81					0	0	0	0	A	91178053	G	A	91178053	3	1	408	1	0	0	0	0	1	0	0	0	7578	1145	40	1	1103	1	IFIT5	10	91178053	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2424929	91178053	44356694	2067	79885											
PANK1	53354	broad.mit.edu	37	chr10	91404753	91404753	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccctgcggcttccgatTcagcagccgcagagccggcg	5	7	12	17	5	1	1	1	0	0	1	4	2	4	1	5	2	4	3	5	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:91404753T>C	ENST00000307534.4	-	1	462	c.307A>G	c.(307-309)Aat>Gat	p.N103D		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	103					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GGCTTCCGATTCAGCAGCCGC	0.746													14	43					0	0	0	0	C	91404753	T	C	91404753	3	2	408	1	0	0	0	0	1	0	0	0	11487	1783	62	5	1549	5	PANK1	10	91404753	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	226700	91404753	44129994	2068	79886											
HTR7	3363	broad.mit.edu	37	chr10	92502258	92502258	+	Frame_Shift_Del	DEL	T	T	-																															ttcaatcatgaatcatgaccTttttttctacagtagtcagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:92502258delT	ENST00000371721.3	-	4	1663	c.1421delA	c.(1420-1422)agfs	p.K474fs	HTR7_ENST00000371719.2_3'UTR|HTR7_ENST00000336152.3_Frame_Shift_Del_p.K474fs|HTR7_ENST00000277874.6_Frame_Shift_Del_p.K441fs			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	474					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AATCATGACCTTTTTTTCTAC	0.328													13	46	---	---	---	---					-	92502258	T	-	92502258	7	5	408	1	0	1	0	1	0	0	0	0	7505	1609	56	0	22	0	HTR7	10	92502258	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1097505	92502258	43032489	2069	79887											
ANKRD1	27063	broad.mit.edu	37	chr10	92675593	92675593	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagatgctccgcgcactcAtagtggccagtcctcaccgc	9	8	9	15	3	2	1	2	0	0	1	4	1	4	1	4	1	1	2	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:92675593A>G	ENST00000371697.3	-	7	944	c.696T>C	c.(694-696)taT>taC	p.Y232Y		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	232					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CCGCGCACTCATAGTGGCCAG	0.542													9	42					0	0	0	0	G	92675593	A	G	92675593	2	3	408	1	0	0	0	0	0	0	0	1	637	224	8	5		5	ANKRD1	10	92675593	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	173335	92675593	42859154	2070	79888											
MARCH5	54708	broad.mit.edu	37	chr10	94109493	94109493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcagatcatgtctctgctActcgaatcttgtgtggagcc	8	13	10	10	1	3	1	1	0	2	1	5	3	3	2	1	1	4	2	1	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:94109493A>G	ENST00000358935.2	+	5	951	c.619A>G	c.(619-621)Act>Gct	p.T207A	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	207					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGTCTCTGCTACTCGAATCTT	0.403													10	292					0	0	0	0	G	94109493	A	G	94109493	3	3	408	1	0	0	0	0	1	0	0	0	9373	391	14	5	637	5	MARCH5	10	94109493	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1433900	94109493	41425254	2071	79889											
KIF11	3832	broad.mit.edu	37	chr10	94353185	94353185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaggagaaggggaagaAcatccaggtggtggtgagat	15	5	18	3	0	0	4	0	1	0	4	1	8	1	5	1	6	1	0	1	6	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:94353185A>G	ENST00000260731.3	+	1	143	c.53A>G	c.(52-54)aAc>aGc	p.N18S		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	18	Kinesin-motor.				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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGGGAAGAACATCCAGGTG	0.637													7	31					0	0	0	0	G	94353185	A	G	94353185	3	3	408	1	0	0	0	0	1	0	0	0	8323	43	2	5	55	5	KIF11	10	94353185	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	243692	94353185	41181562	2072	79890											
HHEX	3087	broad.mit.edu	37	chr10	94452165	94452165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcttgcagaggcctctGcataaaaggaaaggcggcca	11	7	11	12	1	2	1	0	0	2	1	2	2	2	2	3	4	2	2	3	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:94452165G>A	ENST00000282728.5	+	2	2201	c.402G>A	c.(400-402)ctG>ctA	p.L134L	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	134					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AGAGGCCTCTGCATAAAAGGA	0.597													4	111					0	0	0	0	A	94452165	G	A	94452165	2	1	408	1	0	0	0	0	0	0	0	1	7141	1306	46	4		4	HHEX	10	94452165	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	98980	94452165	41082582	2073	79891											
EXOC6	54536	broad.mit.edu	37	chr10	94679786	94679786	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcccctgtttatcgatgTttgcacatttattctgtttt	5	23	5	8	1	1	0	0	0	1	0	3	1	2	0	2	0	1	4	2	0	2	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:94679786T>C	ENST00000371552.4	+	8	881	c.852T>C	c.(850-852)tgT>tgC	p.C284C	EXOC6_ENST00000371547.4_Silent_p.C305C|EXOC6_ENST00000443748.2_Intron|EXOC6_ENST00000260762.6_Silent_p.C289C	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	289					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTATCGATGTTTGCACATTT	0.264													8	26					0	0	0	0	C	94679786	T	C	94679786	2	2	408	1	0	0	0	0	0	0	0	1	5345	1731	60	5		5	EXOC6	10	94679786	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	227621	94679786	40854961	2074	79892											
PLCE1	51196	broad.mit.edu	37	chr10	95993879	95993879	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagaccatgaggagcctgaAggatgctatggcccagcatg	11	7	14	9	0	0	3	0	3	0	1	0	6	0	5	3	3	3	2	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:95993879A>G	ENST00000260766.3	+	6	2658	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	PLCE1_ENST00000371380.2_Missense_Mutation_p.K675R|PLCE1_ENST00000371385.3_Missense_Mutation_p.K367R|PLCE1_ENST00000371375.1_Missense_Mutation_p.K367R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	675	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGGAGCCTGAAGGATGCTATG	0.468													17	78					0	0	0	0	G	95993879	A	G	95993879	3	3	408	1	0	0	0	0	1	0	0	0	12106	72	3	5	2328	5	PLCE1	10	95993879	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1314093	95993879	39540868	2075	79893											
TBC1D12	23232	broad.mit.edu	37	chr10	96291216	96291216	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaccaaaaaatggactcAggtagagtgacattttctta	15	11	8	7	0	2	2	1	1	1	1	2	3	2	3	1	2	1	2	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:96291216A>G	ENST00000225235.4	+	12	2368	c.2259_splice	c.e12+1	p.Q753_splice	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	753						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AAATGGACTCAGGTAGAGTGA	0.323													31	102					0	0	0	0	G	96291216	A	G	96291216	5	3	408	1	0	0	0	0	0	0	1	0	15692	202	7	5	2304	5	TBC1D12	10	96291216	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	297337	96291216	39243531	2076	79894											
CC2D2B	387707	broad.mit.edu	37	chr10	97779080	97779080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaagtgtagattgtttgTttgatgatagaaatgtaagt	15	16	10	0	0	0	4	0	2	0	2	0	4	0	4	0	0	0	4	0	0	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:97779080T>C	ENST00000344386.3	+	7	807	c.643T>C	c.(643-645)Ttt>Ctt	p.F215L	CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.F215L|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	215										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AGATTGTTTGTTTGATGATAG	0.358													21	49					0	0	0	0	C	97779080	T	C	97779080	3	2	408	1	0	0	0	0	1	0	0	0	2754	1725	60	5	665	5	CC2D2B	10	97779080	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1487864	97779080	37755667	2077	79895											
ZNF518A	9849	broad.mit.edu	37	chr10	97917855	97917855	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcaccccgaggtattaggTaccaccattaaaagtccaga	14	8	8	11	1	1	1	1	0	0	1	2	2	2	1	5	2	1	2	5	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:97917855T>C	ENST00000534948.1	+	0	2633							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGGTATTAGGTACCACCATTA	0.383													16	43					0	0	0	0	C	97917855	T	C	97917855	1	2	408	0	1	0	0	0	0	0	0	0	18057	1625	57	5		5	ZNF518A	10	97917855	RNA	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	138775	97917855	37616892	2078	79896											
TLL2	7093	broad.mit.edu	37	chr10	98127953	98127953	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgaatcatcagggaatcAcctgcagagtagatttcttc	13	11	8	9	1	4	2	3	0	1	2	6	4	4	3	1	1	1	2	1	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98127953A>G	ENST00000357947.3	-	21	3165	c.2940T>C	c.(2938-2940)ggT>ggC	p.G980G		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	980	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCAGGGAATCACCTGCAGAGT	0.478													10	80					0	0	0	0	G	98127953	A	G	98127953	2	3	408	1	0	0	0	0	0	0	0	1	16040	146	6	5		5	TLL2	10	98127953	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	210098	98127953	37406794	2079	79897											
TM9SF3	56889	broad.mit.edu	37	chr10	98282044	98282044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaattttcacattagtataGatttttcggacaaaggcact	13	15	6	7	1	2	1	2	0	0	1	3	2	2	2	0	2	0	2	0	2	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98282044G>C	ENST00000371142.4	-	15	1962	c.1746C>G	c.(1744-1746)atC>atG	p.I582M		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	582						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CATTAGTATAGATTTTTCGGA	0.358													12	61					0	0	0	0	C	98282044	G	C	98282044	3	2	408	1	0	0	0	0	1	0	0	0	16073	932	33	2	27	2	TM9SF3	10	98282044	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	154091	98282044	37252703	2080	79898											
TM9SF3	56889	broad.mit.edu	37	chr10	98292810	98292810	+	Frame_Shift_Del	DEL	T	T	-																															atttagcattctctttaccaTtttttctccggtataggacg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98292810delT	ENST00000371142.4	-	10	1539	c.1323delA	c.(1321-1323)aafs	p.K441fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	441						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CTCTTTACCATTTTTTCTCCG	0.378													41	129	---	---	---	---					-	98292810	T	-	98292810	7	5	408	1	0	1	0	1	0	0	0	0	16073	1490	52	0	470	0	TM9SF3	10	98292810	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	10766	98292810	37241937	2081	79899											
TM9SF3	56889	broad.mit.edu	37	chr10	98311121	98311121	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttgatggtctaaatacAtctccatgcacctgtttcca	10	14	6	11	0	2	2	0	2	2	0	4	2	3	2	3	1	2	2	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98311121A>G	ENST00000371142.4	-	7	1056	c.840T>C	c.(838-840)gaT>gaC	p.D280D	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	280						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GTCTAAATACATCTCCATGCA	0.358													9	128					0	0	0	0	G	98311121	A	G	98311121	2	3	408	1	0	0	0	0	0	0	0	1	16073	214	8	5		5	TM9SF3	10	98311121	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	18311	98311121	37223626	2082	79900											
LCOR	84458	broad.mit.edu	37	chr10	98715513	98715513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtatttatgggattccccAcagtacactggagtacaaag	13	10	10	8	0	0	0	0	0	0	0	1	3	1	2	2	2	2	3	2	2	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98715513A>G	ENST00000540664.1	+	8	1679	c.1136A>G	c.(1135-1137)cAc>cGc	p.H379R	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371097.4_Missense_Mutation_p.H379R|LCOR_ENST00000356016.3_Missense_Mutation_p.H379R|LCOR_ENST00000371103.3_Missense_Mutation_p.H379R	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GGGATTCCCCACAGTACACTG	0.428													4	89					0	0	0	0	G	98715513	A	G	98715513	3	3	408	1	0	0	0	0	1	0	0	0	8742	159	6	5	1146	5	LCOR	10	98715513	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	404392	98715513	36819234	2083	79901											
C10orf12	26148	broad.mit.edu	37	chr10	98741199	98741199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacagtaaaaatggcagctGagaatagtgaggaaggcaat	17	8	12	4	0	0	2	0	2	0	1	0	4	0	3	0	3	2	4	0	3	8	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98741199G>A	ENST00000286067.2	+	1	159	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	18										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)		AATGGCAGCTGAGAATAGTGA	0.383													15	66					0	0	0	0	A	98741199	G	A	98741199	3	1	408	1	0	0	0	0	1	0	0	0	1599	1291	45	2	54	2	C10orf12	10	98741199	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	25686	98741199	36793548	2084	79902											
C10orf12	26148	broad.mit.edu	37	chr10	98742051	98742051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctaggtcagaggaaacgAcagcctccagcctggtgtgg	9	6	13	13	1	1	1	1	0	0	1	2	3	2	2	5	4	3	0	5	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98742051A>G	ENST00000286067.2	+	1	1011	c.904A>G	c.(904-906)Aca>Gca	p.T302A		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	302										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)		AGAGGAAACGACAGCCTCCAG	0.572													7	94					0	0	0	0	G	98742051	A	G	98742051	3	3	408	1	0	0	0	0	1	0	0	0	1599	275	10	5	906	5	C10orf12	10	98742051	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	852	98742051	36792696	2085	79903											
CRTAC1	55118	broad.mit.edu	37	chr10	99695980	99695980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcccggccgtccccgTcgatgtcgcaggctgtgacc	3	9	11	18	5	1	1	0	1	1	0	6	2	3	1	6	2	0	2	6	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:99695980T>C	ENST00000370597.3	-	3	723	c.368A>G	c.(367-369)gAc>gGc	p.D123G	CRTAC1_ENST00000370591.2_Missense_Mutation_p.D123G|CRTAC1_ENST00000298819.4_Missense_Mutation_p.D123G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	123						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCCGTCCCCGTCGATGTCGCA	0.632													20	78					0	0	0	0	C	99695980	T	C	99695980	3	2	408	1	0	0	0	0	1	0	0	0	3926	1667	58	5	1669	5	CRTAC1	10	99695980	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	953929	99695980	35838767	2086	79904											
LOXL4	84171	broad.mit.edu	37	chr10	100013338	100013338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgccaaacccagctatCgcgtccagtctttggacgaa	9	9	10	13	3	1	0	0	0	1	0	3	2	2	1	3	2	3	1	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:100013338C>A	ENST00000260702.3	-	11	1957	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	603	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		ACCCAGCTATCGCGTCCAGTC	0.567													11	82					9.05144e-12	9.41241e-12	1	0	A	100013338	C	A	100013338	3	1	408	1	0	0	0	0	1	0	0	0	8966	884	31	3	483	3	LOXL4	10	100013338	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	317358	100013338	35521409	2087	79905											
HPS1	3257	broad.mit.edu	37	chr10	100190934	100190934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacgagcaggaaggcatGcagggcctcctcgcctcccc	7	5	13	16	2	0	0	0	0	0	0	3	2	2	1	5	3	3	4	5	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:100190934G>A	ENST00000325103.6	-	7	855	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	HPS1_ENST00000338546.5_Missense_Mutation_p.H208Y|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.H208Y	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	208					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGAAGGCATGCAGGGCCTCC	0.622									Hermansky-Pudlak syndrome				11	31					0	0	0	0	A	100190934	G	A	100190934	3	1	408	1	0	0	0	0	1	0	0	0	7389	1319	46	4	1574	4	HPS1	10	100190934	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	177596	100190934	35343813	2088	79906											
ENTPD7	57089	broad.mit.edu	37	chr10	101455822	101455822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctgggtttcggaggcaActttgcccggcagcgctacg	5	12	13	11	4	1	0	0	0	1	0	2	1	1	1	1	4	4	4	1	4	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:101455822A>G	ENST00000370489.4	+	9	1131	c.953A>G	c.(952-954)aAc>aGc	p.N318S		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	318						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTCGGAGGCAACTTTGCCCGG	0.453													7	101					0	0	0	0	G	101455822	A	G	101455822	3	3	408	1	0	0	0	0	1	0	0	0	5182	43	2	5	983	5	ENTPD7	10	101455822	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1264888	101455822	34078925	2089	79907											
ABCC2	1244	broad.mit.edu	37	chr10	101611293	101611293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacgggaagattatagagTgcggcagccctgaagaactg	14	6	13	8	2	0	4	0	1	0	3	0	5	0	5	1	2	4	1	1	2	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:101611293T>C	ENST00000370449.4	+	32	4656	c.4543T>C	c.(4543-4545)Tgc>Cgc	p.C1515R		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1515	ABC transporter 2.		C -> Y (in dbSNP:rs8187710).			apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GATTATAGAGTGCGGCAGCCC	0.413													6	146					0	0	0	0	C	101611293	T	C	101611293	3	2	408	1	0	0	0	0	1	0	0	0	53	1696	59	5	4669	5	ABCC2	10	101611293	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	155471	101611293	33923454	2090	79908											
DNMBP	23268	broad.mit.edu	37	chr10	101716889	101716889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatgaagatgggaagaaGccccgtgcgccccagcagct	12	4	12	13	2	0	3	0	1	0	2	0	4	0	4	4	1	4	2	4	1	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:101716889G>A	ENST00000342239.3	-	4	433	c.342C>T	c.(340-342)ggC>ggT	p.G114G	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.G114G			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	114	SH3 2.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			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)		ATGGGAAGAAGCCCCGTGCGC	0.592													14	56					0	0	0	0	A	101716889	G	A	101716889	2	1	408	1	0	0	0	0	0	0	0	1	4710	958	34	4		4	DNMBP	10	101716889	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	105596	101716889	33817858	2091	79909											
CHUK	1147	broad.mit.edu	37	chr10	101969541	101969541	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagtcatatttaggatgtgTactatctgtataaataagaa	16	14	8	3	0	2	1	1	0	1	1	2	3	2	2	0	1	1	2	0	1	10	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:101969541T>C	ENST00000370397.7	-	10	1025	c.939A>G	c.(937-939)gtA>gtG	p.V313V		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	313					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TTAGGATGTGTACTATCTGTA	0.328													7	24					0	0	0	0	C	101969541	T	C	101969541	2	2	408	1	0	0	0	0	0	0	0	1	3445	1625	57	5		5	CHUK	10	101969541	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	252652	101969541	33565206	2092	79910											
PKD2L1	9033	broad.mit.edu	37	chr10	102054309	102054309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggagcacgaagaagaCgaagaagacataggtgacaa	19	2	12	8	2	0	5	0	1	0	4	0	8	0	6	1	2	1	1	1	2	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102054309C>T	ENST00000318222.3	-	9	2024	c.1642G>A	c.(1642-1644)Gtc>Atc	p.V548I	PKD2L1_ENST00000353274.3_Missense_Mutation_p.V548I|PKD2L1_ENST00000338519.3_Missense_Mutation_p.V473I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	548					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACGAAGAAGACGAAGAAGACA	0.532													28	86					0	0	0	0	T	102054309	C	T	102054309	3	4	408	1	0	0	0	0	1	0	0	0	12039	536	19	1	807	1	PKD2L1	10	102054309	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	84768	102054309	33480438	2093	79911											
HIF1AN	55662	broad.mit.edu	37	chr10	102306312	102306312	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattactaaatggggggattAccatcactgtgaacttctgg	11	12	10	8	0	2	1	1	1	1	0	2	2	2	2	1	4	3	0	1	4	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102306312A>G	ENST00000299163.5	+	6	968	c.868A>G	c.(868-870)Acc>Gcc	p.T290A		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	290	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TGGGGGGATTACCATCACTGT	0.428													49	160					0	0	0	0	G	102306312	A	G	102306312	3	3	408	1	0	0	0	0	1	0	0	0	7154	391	14	5	890	5	HIF1AN	10	102306312	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	252003	102306312	33228435	2094	79912											
PAX2	5076	broad.mit.edu	37	chr10	102587324	102587324	+	Frame_Shift_Del	DEL	C	C	-																															cccttattattatagtgccgCcccccggggctccgcccctg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102587324delC	ENST00000428433.1	+	11	1752	c.1202delC	c.(1201-1203)gcfs	p.A401fs	PAX2_ENST00000556085.1_Frame_Shift_Del_p.A377fs|PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000355243.3_Frame_Shift_Del_p.A378fs|PAX2_ENST00000361791.3_3'UTR	NM_003987.3|NM_003990.3	NP_003978.2|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	401					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TATAGTGCCGCCCCCCGGGGC	0.572													31	122	---	---	---	---					-	102587324	C	-	102587324	7	5	408	1	0	1	0	1	0	0	0	0	11550	739	26	0	1331	0	PAX2	10	102587324	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	281012	102587324	32947423	2095	79913											
FAM178A	55719	broad.mit.edu	37	chr10	102672977	102672977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtaccgcccatgctgcagCgggaaagagaacagagagtc	13	5	13	10	2	0	2	0	0	0	2	1	5	0	3	2	1	5	3	2	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102672977C>T	ENST00000238961.3	+	1	258	c.110C>T	c.(109-111)gCg>gTg	p.A37V	FAM178A_ENST00000370269.3_Missense_Mutation_p.A37V|FAM178A_ENST00000370271.3_Missense_Mutation_p.A37V	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	37																	CATGCTGCAGCGGGAAAGAGA	0.687													5	21					0	0	0	0	T	102672977	C	T	102672977	3	4	408	1	0	0	0	0	1	0	0	0	5544	768	27	1	112	1	FAM178A	10	102672977	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	85653	102672977	32861770	2096	79914											
C10orf2	56652	broad.mit.edu	37	chr10	102748696	102748696	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actattccccgacccagcgcCtaccacaatctgtttggatt	9	11	6	15	2	1	0	0	0	1	0	2	2	2	1	5	1	2	1	5	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102748696C>A	ENST00000370228.1	+	1	914	c.729C>A	c.(727-729)gcC>gcA	p.A243A	C10orf2_ENST00000311916.2_Silent_p.A243A|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	243					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GACCCAGCGCCTACCACAATC	0.567													27	76					4.87955e-14	5.09883e-14	1	0	A	102748696	C	A	102748696	2	1	408	1	0	0	0	0	0	0	0	1	1607	668	24	4		4	C10orf2	10	102748696	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	75719	102748696	32786051	2097	79915											
KAZALD1	81621	broad.mit.edu	37	chr10	102824394	102824394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctgctagcttgacagTgctcacacctggtaagggga	8	8	13	12	0	1	1	1	1	0	0	1	2	1	2	3	4	3	4	3	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102824394T>C	ENST00000370200.5	+	4	1135	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	270					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AGCTTGACAGTGCTCACACCT	0.567													20	59					0	0	0	0	C	102824394	T	C	102824394	3	2	408	1	0	0	0	0	1	0	0	0	8042	1696	59	5	819	5	KAZALD1	10	102824394	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	75698	102824394	32710353	2098	79916											
PPRC1	23082	broad.mit.edu	37	chr10	103899296	103899296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacactgcctgagggctgcgTagtgctggagattgtggggc	6	9	18	8	1	0	2	0	1	0	1	0	4	0	2	1	4	3	3	1	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:103899296T>C	ENST00000278070.2	+	5	1070	c.1031T>C	c.(1030-1032)gTa>gCa	p.V344A	PPRC1_ENST00000413464.2_Missense_Mutation_p.V344A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGGGCTGCGTAGTGCTGGAG	0.612													6	273					0	0	0	0	C	103899296	T	C	103899296	3	2	408	1	0	0	0	0	1	0	0	0	12486	1638	57	5	1049	5	PPRC1	10	103899296	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1074902	103899296	31635451	2099	79917											
NOLC1	9221	broad.mit.edu	37	chr10	103919045	103919045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgactcagaggaggagaagGcagcagccacccccaagaag	15	2	13	11	0	1	4	1	1	0	3	1	6	1	5	3	3	2	2	3	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:103919045G>A	ENST00000405356.1	+	6	938	c.703G>A	c.(703-705)Gca>Aca	p.A235T	NOLC1_ENST00000605788.1_Missense_Mutation_p.A235T|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.A236T			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	235	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGAGGAGAAGGCAGCAGCCAC	0.547													32	157					0	0	0	0	A	103919045	G	A	103919045	3	1	408	1	0	0	0	0	1	0	0	0	10599	1203	42	4	725	4	NOLC1	10	103919045	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	19749	103919045	31615702	2100	79918											
ELOVL3	83401	broad.mit.edu	37	chr10	103986316	103986316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaaaactagatggtcacagCcatgaatgtctcacatgaag	15	8	9	9	0	2	3	2	2	1	1	3	3	2	3	1	1	2	1	1	1	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:103986316C>T	ENST00000370005.3	+	1	232	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	4					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ATGGTCACAGCCATGAATGTC	0.527													11	93					0	0	0	0	T	103986316	C	T	103986316	3	4	408	1	0	0	0	0	1	0	0	0	5113	739	26	4	13	4	ELOVL3	10	103986316	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	67271	103986316	31548431	2101	79919											
NFKB2	4791	broad.mit.edu	37	chr10	104159907	104159907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctatgtcatccaccacGcccaggacctcggcgttgtc	7	10	9	15	3	2	0	1	0	1	0	5	1	3	1	4	2	0	1	4	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104159907G>A	ENST00000369966.3	+	15	1790	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	NFKB2_ENST00000428099.1_Missense_Mutation_p.A514T|NFKB2_ENST00000189444.6_Missense_Mutation_p.A514T	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	514					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CATCCACCACGCCCAGGACCT	0.632			T	IGH@	B-NHL								34	75					0	0	0	0	A	104159907	G	A	104159907	3	1	408	1	0	0	0	0	1	0	0	0	10446	1087	38	1	1594	1	NFKB2	10	104159907	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	173591	104159907	31374840	2102	79920											
TRIM8	81603	broad.mit.edu	37	chr10	104404917	104404917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggacactcggtgtgcgaCgtggagatccgaaggaatga	11	6	16	8	4	0	2	0	1	0	1	2	7	1	4	1	4	1	0	1	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104404917C>T	ENST00000302424.6	+	1	665	c.543C>T	c.(541-543)gaC>gaT	p.D181D		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	181						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGGTGTGCGACGTGGAGATCC	0.642													7	27					0	0	0	0	T	104404917	C	T	104404917	2	4	408	1	0	0	0	0	0	0	0	1	16643	535	19	1		1	TRIM8	10	104404917	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	245010	104404917	31129830	2103	79921											
AS3MT	57412	broad.mit.edu	37	chr10	104660390	104660390	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcttgcagaagagtctgAcagtatgaagtccagatgtg	13	10	12	6	0	1	5	0	2	1	3	2	5	2	5	1	0	2	3	1	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104660390A>T	ENST00000369880.3	+	11	1138	c.1061A>T	c.(1060-1062)gAc>gTc	p.D354V	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	354					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GAAGAGTCTGACAGTATGAAG	0.443													27	96					0	0	0	0	T	104660390	A	T	104660390	3	4	408	1	0	0	0	0	1	0	0	0	1009	275	10	5	1103	5	AS3MT	10	104660390	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	255473	104660390	30874357	2104	79922											
CNNM2	54805	broad.mit.edu	37	chr10	104678805	104678805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagaagagcaagtcctatTacctgtgcacgtcgctctcc	9	10	10	12	2	1	2	0	0	1	2	4	3	2	2	3	1	3	3	3	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104678805T>C	ENST00000369878.3	+	1	692	c.568T>C	c.(568-570)Tac>Cac	p.Y190H	CNNM2_ENST00000369875.3_Missense_Mutation_p.Y190H|CNNM2_ENST00000433628.2_Missense_Mutation_p.Y190H	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	190					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGTCCTATTACCTGTGCAC	0.657													75	232					0	0	0	0	C	104678805	T	C	104678805	3	2	408	1	0	0	0	0	1	0	0	0	3643	1754	61	5	570	5	CNNM2	10	104678805	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	18415	104678805	30855942	2105	79923											
NT5C2	22978	broad.mit.edu	37	chr10	104857078	104857081	+	Frame_Shift_Del	DEL	AAGA	AAGA	-																															ttatagtcactgttggtagcAagaaatactttccctacttc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104857078_104857081delAAGA	ENST00000343289.5	-	10	825_828	c.738_741delTCTT	c.(736-741)ttfs	p.FL246fs	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Frame_Shift_Del_p.FL246fs|NT5C2_ENST00000423468.2_Frame_Shift_Del_p.FL217fs	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	246					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TGTTGGTAGCAAGAAATACTTTCC	0.343													24	106	---	---	---	---					-	104857081	AAGA	-	104857078	7	5	408	1	0	1	0	1	0	0	0	0	10758	117	5	0	980	0	NT5C2	10	104857078	Frame_Shift_Del	DEL	AAGA	TCGA-F7-A624-01A-22D-A30E-08	178273	104857078	30677669	2106	79924											
PDCD11	22984	broad.mit.edu	37	chr10	105201725	105201725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggatgagaagccacaccAagccacggtgctgtattttg	11	8	13	9	1	0	1	0	1	0	1	0	4	0	3	3	3	3	2	3	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105201725A>G	ENST00000369797.3	+	31	4794	c.4700A>G	c.(4699-4701)cAa>cGa	p.Q1567R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1567					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AAGCCACACCAAGCCACGGTG	0.557													12	57					0	0	0	0	G	105201725	A	G	105201725	3	3	408	1	0	0	0	0	1	0	0	0	11688	130	5	5	4818	5	PDCD11	10	105201725	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	344647	105201725	30333022	2107	79925											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362410	105362410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagctgatctccgagtcCtggaccttctggtaggcgct	6	10	14	11	2	2	1	0	1	2	0	4	4	3	3	3	4	1	3	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105362410C>T	ENST00000369774.4	-	15	2841	c.2565G>A	c.(2563-2565)caG>caA	p.Q855Q	SH3PXD2A_ENST00000538130.1_Silent_p.Q690Q|SH3PXD2A_ENST00000540321.1_Silent_p.Q722Q|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.Q827Q			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	855	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCTCCGAGTCCTGGACCTTCT	0.632													32	78					0	0	0	0	T	105362410	C	T	105362410	2	4	408	1	0	0	0	0	0	0	0	1	14344	680	24	4		4	SH3PXD2A	10	105362410	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	160685	105362410	30172337	2108	79926											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363391	105363391	+	Frame_Shift_Del	DEL	G	G	-																															tcggcctccttgggcttgctGgggggtgctggcgggggcac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105363391delG	ENST00000369774.4	-	15	1860	c.1584delC	c.(1582-1584)ccfs	p.P528fs	SH3PXD2A_ENST00000538130.1_Frame_Shift_Del_p.P363fs|SH3PXD2A_ENST00000355946.2_Frame_Shift_Del_p.P500fs|SH3PXD2A_ENST00000540321.1_Frame_Shift_Del_p.P395fs|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	528					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.S501fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGGGCTTGCTGGGGGGTGCTG	0.667													27	62	---	---	---	---					-	105363391	G	-	105363391	7	5	408	1	0	1	0	1	0	0	0	0	14344	1335	47	0	1821	0	SH3PXD2A	10	105363391	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	981	105363391	30171356	2109	79927											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363403	105363403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgctggggggtgctggCgggggcaccttgggccgggt	1	8	23	9	2	0	0	0	0	0	0	0	0	0	0	2	9	2	4	2	9	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105363403C>T	ENST00000369774.4	-	15	1848	c.1572G>A	c.(1570-1572)ccG>ccA	p.P524P	SH3PXD2A_ENST00000538130.1_Silent_p.P359P|SH3PXD2A_ENST00000540321.1_Silent_p.P391P|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.P496P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	524					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGGTGCTGGCGGGGGCACCT	0.672													6	51					0	0	0	0	T	105363403	C	T	105363403	2	4	408	1	0	0	0	0	0	0	0	1	14344	755	27	1		1	SH3PXD2A	10	105363403	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	12	105363403	30171344	2110	79928											
ITPRIP	85450	broad.mit.edu	37	chr10	106074457	106074457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgagcgtccagctgcccCgccttccagtcggcggcctg	5	6	13	17	5	0	1	0	0	0	1	3	2	2	1	6	2	3	1	6	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:106074457C>T	ENST00000278071.2	-	3	1805	c.1353G>A	c.(1351-1353)gcG>gcA	p.A451A	ITPRIP_ENST00000358187.2_Silent_p.A451A|ITPRIP_ENST00000337478.1_Silent_p.A451A	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	451						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCAGCTGCCCCGCCTTCCAGT	0.642													5	103					0	0	0	0	T	106074457	C	T	106074457	2	4	408	1	0	0	0	0	0	0	0	1	7976	639	23	1		1	ITPRIP	10	106074457	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	711054	106074457	29460290	2111	79929											
SORCS1	114815	broad.mit.edu	37	chr10	108589383	108589383	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagctcaaaatggttttcaaAccaactttatcattcagctt	13	15	4	9	0	4	0	4	0	0	0	4	0	4	0	1	1	4	3	1	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:108589383A>G	ENST00000263054.6	-	3	682	c.675T>C	c.(673-675)ggT>ggC	p.G225G	SORCS1_ENST00000344440.6_Silent_p.G225G	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	225						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGTTTTCAAACCAACTTTAT	0.368													27	63					0	0	0	0	G	108589383	A	G	108589383	2	3	408	1	0	0	0	0	0	0	0	1	15018	30	2	5		5	SORCS1	10	108589383	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2514926	108589383	26945364	2112	79930											
XPNPEP1	7511	broad.mit.edu	37	chr10	111647813	111647813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattgattctgacctgtgtAatccaggcccagtgtgagga	9	11	11	10	0	1	3	0	3	1	0	2	4	2	4	4	2	0	1	4	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:111647813A>G	ENST00000502935.1	-	7	765	c.646T>C	c.(646-648)Tac>Cac	p.Y216H	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.Y216H|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.Y102H|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.Y173H			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	173					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGACCTGTGTAATCCAGGCCC	0.572													4	44					0	0	0	0	G	111647813	A	G	111647813	3	3	408	1	0	0	0	0	1	0	0	0	17538	362	13	5	1414	5	XPNPEP1	10	111647813	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3058430	111647813	23886934	2113	79931											
GPAM	57678	broad.mit.edu	37	chr10	113933601	113933601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctgcaattgcctcttgtActctggtatgaaaatggaaa	11	14	8	8	0	3	1	0	1	3	0	3	2	3	2	1	2	3	3	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:113933601A>G	ENST00000348367.4	-	7	613	c.416T>C	c.(415-417)gTa>gCa	p.V139A	GPAM_ENST00000369425.1_Missense_Mutation_p.V139A|GPAM_ENST00000423155.1_Missense_Mutation_p.V139A			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	139					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCCTCTTGTACTCTGGTATG	0.358													15	54					0	0	0	0	G	113933601	A	G	113933601	3	3	408	1	0	0	0	0	1	0	0	0	6637	391	14	5	2134	5	GPAM	10	113933601	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2285788	113933601	21601146	2114	79932											
TECTB	6975	broad.mit.edu	37	chr10	114045891	114045891	+	Frame_Shift_Del	DEL	A	A	-																															aatgacaccacagtgattgtAaaaaaccagcctgtcaacta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:114045891delA	ENST00000369422.3	+	3	330	c.330delA	c.(328-330)gtfs	p.V110fs		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	110	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CAGTGATTGTAAAAAACCAGC	0.473													20	115	---	---	---	---					-	114045891	A	-	114045891	7	5	408	1	0	1	0	1	0	0	0	0	15842	349	13	0	340	0	TECTB	10	114045891	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	112290	114045891	21488856	2115	79933											
ZDHHC6	64429	broad.mit.edu	37	chr10	114192220	114192220	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgtgaagaaggttttGattcctttattcagagggca	10	14	12	5	0	1	4	1	2	0	2	2	5	2	5	1	3	0	2	1	3	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:114192220G>T	ENST00000369405.3	-	9	1428	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	ZDHHC6_ENST00000369404.3_Silent_p.I331I|ZDHHC6_ENST00000482410.1_5'UTR	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	335						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AGAAGGTTTTGATTCCTTTAT	0.413													29	100					9.39395e-14	9.81155e-14	1	0	T	114192220	G	T	114192220	2	4	408	1	0	0	0	0	0	0	0	1	17714	1280	45	2		2	ZDHHC6	10	114192220	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	146329	114192220	21342527	2116	79934											
NRAP	4892	broad.mit.edu	37	chr10	115365940	115365940	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacaaaagggcttacgtcActcaggttggctgcattcgt	10	11	11	9	2	2	0	2	0	0	0	3	0	2	0	0	3	3	5	0	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115365940A>G	ENST00000369358.4	-	33	4072	c.3828T>C	c.(3826-3828)agT>agC	p.S1276S	NRAP_ENST00000360478.3_Silent_p.S1233S|NRAP_ENST00000369360.3_Silent_p.S1241S|NRAP_ENST00000359988.3_Silent_p.S1268S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1268						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGCTTACGTCACTCAGGTTGG	0.478													19	53					0	0	0	0	G	115365940	A	G	115365940	2	3	408	1	0	0	0	0	0	0	0	1	10709	156	6	5		5	NRAP	10	115365940	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1173720	115365940	20168807	2117	79935											
CASP7	840	broad.mit.edu	37	chr10	115485283	115485285	+	In_Frame_Del	DEL	TCT	TCT	-																															ccttttagagaaacccaaacTcttcttcattcaggtaatct																								rs141266925	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115485283_115485285delTCT	ENST00000369321.2	+	6	958_960	c.638_640delTCT	c.(637-642)ctc>c	p.LF213del	CASP7_ENST00000369331.4_Intron|CASP7_ENST00000345633.4_In_Frame_Del_p.LF180del|CASP7_ENST00000369318.3_In_Frame_Del_p.LF180del|CASP7_ENST00000452490.2_In_Frame_Del_p.LF155del|CASP7_ENST00000369315.1_In_Frame_Del_p.LF180del	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	180					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AAACCCAAACTCTTCTTCATTCA	0.394													19	51	---	---	---	---					-	115485285	TCT	-	115485283	7	5	408	1	0	1	0	1	0	0	0	0	2701	1551	54	0	656	0	CASP7	10	115485283	In_Frame_Del	DEL	TCT	TCGA-F7-A624-01A-22D-A30E-08	119343	115485283	20049464	2118	79936											
DCLRE1A	9937	broad.mit.edu	37	chr10	115595055	115595055	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttctaggtagctgctgtgTtcactgtaaggaattcctgt	8	16	10	7	0	2	0	1	0	1	0	3	1	3	1	1	2	2	5	1	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115595055T>C	ENST00000361384.2	-	9	3896	c.2979A>G	c.(2977-2979)gaA>gaG	p.E993E	DCLRE1A_ENST00000369305.1_Silent_p.E993E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	993					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGCTGCTGTGTTCACTGTAAG	0.353								Other identified genes with known or suspected DNA repair function					17	49					0	0	0	0	C	115595055	T	C	115595055	2	2	408	1	0	0	0	0	0	0	0	1	4326	1722	60	5		5	DCLRE1A	10	115595055	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	109772	115595055	19939692	2119	79937											
DCLRE1A	9937	broad.mit.edu	37	chr10	115609831	115609832	+	Frame_Shift_Ins	INS	-	-	A																															aagggaccatgtcgttttttINSaaaaaaaccacagctgtcat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115609831_115609832insA	ENST00000361384.2	-	2	1949_1950	c.1032_1033insT	c.(1030-1035)ttaaaafs	p.L344fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Ins_p.L344fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	344					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGTCGTTTTTTAAAAAAACCAC	0.406								Other identified genes with known or suspected DNA repair function					29	129	---	---	---	---					A	115609832	-	A	115609831	7	5	408	1	0	1	1	0	0	0	0	0	4326	1763	61	0	2121	0	DCLRE1A	10	115609831	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	14776	115609831	19924916	2120	79938											
NHLRC2	374354	broad.mit.edu	37	chr10	115668258	115668258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aataacggatacacagcaagGttgcatagctccagtagagc	15	7	10	9	1	0	1	0	0	0	1	1	2	1	2	1	2	6	5	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115668258G>A	ENST00000369301.3	+	11	2356	c.2144G>A	c.(2143-2145)gGt>gAt	p.G715D		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	715					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ACACAGCAAGGTTGCATAGCT	0.448													16	56					0	0	0	0	A	115668258	G	A	115668258	3	1	408	1	0	0	0	0	1	0	0	0	10476	1261	44	4	2186	4	NHLRC2	10	115668258	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	58427	115668258	19866489	2121	79939											
ABLIM1	3983	broad.mit.edu	37	chr10	116225582	116225582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgatcccgaacatcctggTacccctggaaacaaagttca	12	8	7	14	2	1	0	1	0	0	0	4	3	4	1	5	2	3	2	5	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:116225582T>C	ENST00000369252.4	-	12	1437	c.1136A>G	c.(1135-1137)tAc>tGc	p.Y379C	ABLIM1_ENST00000369253.2_Missense_Mutation_p.Y97C|ABLIM1_ENST00000277895.5_Missense_Mutation_p.Y439C|ABLIM1_ENST00000392952.3_Missense_Mutation_p.Y151C|ABLIM1_ENST00000369266.3_Missense_Mutation_p.Y151C|ABLIM1_ENST00000533213.2_Missense_Mutation_p.Y379C	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	439					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AACATCCTGGTACCCCTGGAA	0.537													44	136					0	0	0	0	C	116225582	T	C	116225582	3	2	408	1	0	0	0	0	1	0	0	0	94	1638	57	5	1064	5	ABLIM1	10	116225582	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	557324	116225582	19309165	2122	79940											
FAM160B1	57700	broad.mit.edu	37	chr10	116603660	116603660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctcagtcagtggatcCgttagatattgaaaccgtgg	10	11	10	10	2	2	2	2	1	0	1	3	3	3	3	4	2	2	1	4	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:116603660C>T	ENST00000369248.4	+	7	1312	c.977C>T	c.(976-978)cCg>cTg	p.P326L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P326L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	326										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCAGTGGATCCGTTAGATATT	0.458													26	103					0	0	0	0	T	116603660	C	T	116603660	3	4	408	1	0	0	0	0	1	0	0	0	5511	652	23	1	1003	1	FAM160B1	10	116603660	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	378078	116603660	18931087	2123	79941											
HSPA12A	259217	broad.mit.edu	37	chr10	118434729	118434729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggtgagcggcgaccggcGcaccttgatgaccgcggggt	6	6	18	11	6	0	3	0	3	0	0	0	4	0	3	3	5	1	2	3	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:118434729G>A	ENST00000369209.3	-	12	1695	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	531							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGCGACCGGCGCACCTTGATG	0.652													27	55					0	0	0	0	A	118434729	G	A	118434729	3	1	408	1	0	0	0	0	1	0	0	0	7456	1087	38	1	440	1	HSPA12A	10	118434729	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1831069	118434729	17100018	2124	79942											
PDZD8	118987	broad.mit.edu	37	chr10	119042842	119042842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaatggctgagagtctatTagttggcttatttcattatc	9	17	9	6	0	2	2	1	2	1	1	3	3	2	2	0	2	0	3	0	2	5	6	rs148191940		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:119042842T>C	ENST00000334464.5	-	5	3641	c.3402A>G	c.(3400-3402)ctA>ctG	p.L1134L		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1134					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGAGTCTATTAGTTGGCTTA	0.383													6	72					0	0	0	0	C	119042842	T	C	119042842	2	2	408	1	0	0	0	0	0	0	0	1	11776	1741	61	5		5	PDZD8	10	119042842	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	608113	119042842	16491905	2125	79943											
PRLHR	2834	broad.mit.edu	37	chr10	120354158	120354158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcggcttgagctccacgTgataggtgtgcacggcggcg	5	8	17	11	6	0	2	0	2	0	0	1	2	1	2	1	4	3	3	1	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:120354158T>C	ENST00000239032.2	-	2	737	c.599A>G	c.(598-600)cAc>cGc	p.H200R	PRLHR_ENST00000369169.1_Missense_Mutation_p.H200R	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	200					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GAGCTCCACGTGATAGGTGTG	0.716													3	23					0	0	0	0	C	120354158	T	C	120354158	3	2	408	1	0	0	0	0	1	0	0	0	12610	1696	59	5	517	5	PRLHR	10	120354158	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1311316	120354158	15180589	2126	79944											
BAG3	9531	broad.mit.edu	37	chr10	121431867	121431867	+	Frame_Shift_Del	DEL	G	G	-																															gggcagtcaccagctcccgcGggggtacatctccattccgg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:121431867delG	ENST00000369085.3	+	3	914	c.608delG	c.(607-609)cgfs	p.R203fs		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	203					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CAGCTCCCGCGGGGGTACATC	0.652													35	121	---	---	---	---					-	121431867	G	-	121431867	7	5	408	1	0	1	0	1	0	0	0	0	1292	1116	39	0	618	0	BAG3	10	121431867	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	1077709	121431867	14102880	2127	79945											
BAG3	9531	broad.mit.edu	37	chr10	121431897	121431897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattccggtgatacacgAgcagaacgttacccggccag	10	7	10	14	4	0	2	0	1	0	1	2	3	2	2	4	2	4	2	4	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:121431897A>G	ENST00000369085.3	+	3	944	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	213					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GTGATACACGAGCAGAACGTT	0.652													46	113					0	0	0	0	G	121431897	A	G	121431897	3	3	408	1	0	0	0	0	1	0	0	0	1292	304	11	5	648	5	BAG3	10	121431897	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	30	121431897	14102850	2128	79946											
BAG3	9531	broad.mit.edu	37	chr10	121436443	121436443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcgaagagtatttgacCaaagagctgctggccctgga	12	9	12	8	1	0	4	0	2	0	2	1	6	0	5	2	2	2	3	2	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:121436443C>T	ENST00000369085.3	+	4	1683	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	459	BAG.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGTATTTGACCAAAGAGCTGC	0.532													18	67					0	0	0	0	T	121436443	C	T	121436443	2	4	408	1	0	0	0	0	0	0	0	1	1292	581	21	4		4	BAG3	10	121436443	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4546	121436443	14098304	2129	79947											
WDR11	55717	broad.mit.edu	37	chr10	122664230	122664230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactgtgattcactgaaaGcctgtttagtcactactgtc	10	15	7	9	0	2	2	2	2	0	0	3	2	2	2	1	0	3	1	1	0	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:122664230G>A	ENST00000263461.6	+	25	3346	c.3100G>A	c.(3100-3102)Gcc>Acc	p.A1034T	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1034						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTCACTGAAAGCCTGTTTAGT	0.443													4	112					0	0	0	0	A	122664230	G	A	122664230	3	1	408	1	0	0	0	0	1	0	0	0	17369	971	34	4	3198	4	WDR11	10	122664230	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1227787	122664230	12870517	2130	79948											
ATE1	11101	broad.mit.edu	37	chr10	123658396	123658396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggtggatcctggtgtatgGccacttgatacttgacatac	8	12	12	9	1	0	2	0	2	0	0	1	3	1	3	2	4	2	1	2	4	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:123658396G>A	ENST00000369043.3	-	7	988	c.902C>T	c.(901-903)gCc>gTc	p.A301V	ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.A205V|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.A294V	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	301					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CTGGTGTATGGCCACTTGATA	0.428													25	81					0	0	0	0	A	123658396	G	A	123658396	3	1	408	1	0	0	0	0	1	0	0	0	1082	1203	42	4	678	4	ATE1	10	123658396	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	994166	123658396	11876351	2131	79949											
TACC2	10579	broad.mit.edu	37	chr10	123847263	123847263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagctgtcaggacccaGcctgctctgacaaggctccg	9	6	12	14	1	2	1	1	1	1	0	3	3	3	3	3	3	3	3	3	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:123847263G>A	ENST00000369005.1	+	4	5588	c.5248G>A	c.(5248-5250)Gcc>Acc	p.A1750T	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A1750T|TACC2_ENST00000515273.1_Missense_Mutation_p.A1750T|TACC2_ENST00000453444.2_Missense_Mutation_p.A1750T|TACC2_ENST00000515603.1_Missense_Mutation_p.A1750T|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1750						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAGGACCCAGCCTGCTCTGA	0.632													12	20					0	0	0	0	A	123847263	G	A	123847263	3	1	408	1	0	0	0	0	1	0	0	0	15593	971	34	4	5258	4	TACC2	10	123847263	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	188867	123847263	11687484	2132	79950											
BTBD16	118663	broad.mit.edu	37	chr10	124094399	124094399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttcccaatttaggagAatacaacttattcgaaaacg	14	13	5	9	2	1	1	0	0	1	1	4	3	2	1	1	1	3	0	1	1	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:124094399A>G	ENST00000368994.2	+	14	1422	c.1171A>G	c.(1171-1173)Aat>Gat	p.N391D	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Missense_Mutation_p.N390D			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	390										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AATTTAGGAGAATACAACTTA	0.383													4	87					0	0	0	0	G	124094399	A	G	124094399	3	3	408	1	0	0	0	0	1	0	0	0	1549	246	9	5	1218	5	BTBD16	10	124094399	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	247136	124094399	11440348	2133	79951											
FAM24B	196792	broad.mit.edu	37	chr10	124608784	124608784	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaggccctcatttatgtcGcaacagcaaggtggcaggga	11	7	13	10	1	1	1	1	0	0	1	2	2	1	2	1	4	2	3	1	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:124608784G>A	ENST00000368898.3	-	4	554	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Silent_p.C88C|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000462859.1_5'UTR	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	88						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CATTTATGTCGCAACAGCAAG	0.448													28	73					0	0	0	0	A	124608784	G	A	124608784	2	1	408	1	0	0	0	0	0	0	0	1	5592	1079	38	1		1	FAM24B	10	124608784	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	514385	124608784	10925963	2134	79952											
GPR26	2849	broad.mit.edu	37	chr10	125447486	125447486	+	Frame_Shift_Del	DEL	G	G	-																															ggtgcccatcggctcccactGgggggtgctgtccaagtgct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:125447486delG	ENST00000284674.1	+	3	877	c.824delG	c.(823-825)tgfs	p.W275fs		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	275					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)				GGCTCCCACTGGGGGGTGCTG	0.582													26	112	---	---	---	---					-	125447486	G	-	125447486	7	5	408	1	0	1	0	1	0	0	0	0	6733	1357	47	0	834	0	GPR26	10	125447486	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	838702	125447486	10087261	2135	79953											
CPXM2	119587	broad.mit.edu	37	chr10	125528100	125528100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaggacgtgaatccgcGtctcctccaccaggtggacg	8	6	15	12	4	1	1	0	1	1	0	4	4	3	4	4	5	0	0	4	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:125528100G>A	ENST00000241305.3	-	9	1395	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	414					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGAATCCGCGTCTCCTCCAC	0.627													34	111					0	0	0	0	A	125528100	G	A	125528100	3	1	408	1	0	0	0	0	1	0	0	0	3868	1145	40	1	1053	1	CPXM2	10	125528100	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	80614	125528100	10006647	2136	79954											
CTBP2	1488	broad.mit.edu	37	chr10	126715969	126715969	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaggggaggctctttgggTaccctagcagctccagacgg	8	8	15	10	1	1	2	0	0	1	2	2	3	2	3	2	5	3	4	2	5	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:126715969T>C	ENST00000309035.6	-	1	490	c.360A>G	c.(358-360)gtA>gtG	p.V120V	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCTCTTTGGGTACCCTAGCAG	0.612													9	107					0	0	0	0	C	126715969	T	C	126715969	2	2	408	1	0	0	0	0	0	0	0	1	4030	1625	57	5		5	CTBP2	10	126715969	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1187869	126715969	8818778	2137	79955											
DHX32	55760	broad.mit.edu	37	chr10	127529492	127529492	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagtgatctccttcgggAtgtaaaaatgtcttccaaca	13	12	8	8	1	2	1	0	1	2	0	5	2	3	2	2	1	1	2	2	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:127529492A>C	ENST00000284690.3	-	8	2107	c.1617T>G	c.(1615-1617)caT>caG	p.H539Q	DHX32_ENST00000368721.1_Missense_Mutation_p.H163Q|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.H458Q|BCCIP_ENST00000429863.2_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	539						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCTTCGGGATGTAAAAATG	0.423													4	145					0	0	0	0	C	127529492	A	C	127529492	3	2	408	1	0	0	0	0	1	0	0	0	4542	330	12	5	630	5	DHX32	10	127529492	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	813523	127529492	8005255	2138	79956											
ADAM12	8038	broad.mit.edu	37	chr10	127731634	127731634	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggatggggccgctgtcTgtgcttcctccaaagccaaa	7	9	12	13	2	1	0	0	0	1	0	3	1	3	1	5	3	3	2	5	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:127731634T>C	ENST00000368679.4	-	18	2397	c.2088A>G	c.(2086-2088)acA>acG	p.T696T	ADAM12_ENST00000368676.4_Silent_p.T696T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	696					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGCCGCTGTCTGTGCTTCCTC	0.637													11	45					0	0	0	0	C	127731634	T	C	127731634	2	2	408	1	0	0	0	0	0	0	0	1	236	1567	55	5		5	ADAM12	10	127731634	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	202142	127731634	7803113	2139	79957											
ADAM12	8038	broad.mit.edu	37	chr10	127760131	127760131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagactccctgacttccGgcaggttaaacaggcacacc	12	6	9	14	2	0	2	0	1	0	1	2	3	2	2	3	3	1	3	3	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:127760131G>A	ENST00000368679.4	-	12	1556	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	ADAM12_ENST00000368676.4_Missense_Mutation_p.P416L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	416	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTGACTTCCGGCAGGTTAAA	0.542													5	174					0	0	0	0	A	127760131	G	A	127760131	3	1	408	1	0	0	0	0	1	0	0	0	236	1116	39	1	1638	1	ADAM12	10	127760131	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	28497	127760131	7774616	2140	79958											
PTPRE	5791	broad.mit.edu	37	chr10	129866425	129866425	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccccaggctggtctcAcagctgcacttcaccagctg	9	7	9	16	0	2	0	2	0	1	0	3	0	2	0	3	2	4	4	3	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:129866425A>G	ENST00000254667.3	+	12	1161	c.882A>G	c.(880-882)tcA>tcG	p.S294S	PTPRE_ENST00000419012.2_Silent_p.S294S|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.S236S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	294	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGCTGGTCTCACAGCTGCACT	0.617													34	89					0	0	0	0	G	129866425	A	G	129866425	2	3	408	1	0	0	0	0	0	0	0	1	12882	146	6	5		5	PTPRE	10	129866425	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2106294	129866425	5668322	2141	79959											
MKI67	4288	broad.mit.edu	37	chr10	129905653	129905653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagttttctcgtgagtcGtgggcttgtcagtgcatact	5	16	13	7	2	2	1	1	1	1	0	4	1	2	1	0	2	2	4	0	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:129905653G>A	ENST00000368654.3	-	13	4826	c.4451C>T	c.(4450-4452)aCg>aTg	p.T1484M	MKI67_ENST00000368653.3_Missense_Mutation_p.T1124M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1484	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCGTGAGTCGTGGGCTTGTC	0.507													109	351					0	0	0	0	A	129905653	G	A	129905653	3	1	408	1	0	0	0	0	1	0	0	0	9667	1145	40	1	5331	1	MKI67	10	129905653	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	39228	129905653	5629094	2142	79960											
MKI67	4288	broad.mit.edu	37	chr10	129907004	129907004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaggagctcttctttcaCacctactttccccagggatg	7	13	8	13	0	3	0	1	0	2	0	4	2	4	2	3	2	3	2	3	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:129907004C>A	ENST00000368654.3	-	13	3475	c.3100G>T	c.(3100-3102)Gtg>Ttg	p.V1034L	MKI67_ENST00000368653.3_Missense_Mutation_p.V674L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1034	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTTTCACACCTACTTTC	0.507													11	672					0.00010058	0.000102188	1	0	A	129907004	C	A	129907004	3	1	408	1	0	0	0	0	1	0	0	0	9667	478	17	4	6682	4	MKI67	10	129907004	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1351	129907004	5627743	2143	79961											
TCERG1L	256536	broad.mit.edu	37	chr10	132891465	132891465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtctgttttccttgtccCgtttcttaagaataagtatg	8	19	7	7	1	2	1	0	0	2	1	4	1	4	1	2	0	0	3	2	0	5	8	rs139123582	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:132891465C>T	ENST00000368642.4	-	12	1806	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	574										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)		TTCCTTGTCCCGTTTCTTAAG	0.478													13	53					0	0	0	0	T	132891465	C	T	132891465	3	4	408	1	0	0	0	0	1	0	0	0	15780	652	23	1	43	1	TCERG1L	10	132891465	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2984461	132891465	2643282	2144	79962											
DPYSL4	10570	broad.mit.edu	37	chr10	134017276	134017276	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccggcagctggcggagaTccacggtgtgccccgtggac	5	5	15	16	4	0	1	0	0	0	1	1	3	1	2	5	5	2	2	5	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:134017276T>A	ENST00000338492.4	+	13	1636	c.1472T>A	c.(1471-1473)aTc>aAc	p.I491N	DPYSL4_ENST00000368627.1_Missense_Mutation_p.I331N|DPYSL4_ENST00000368629.1_Missense_Mutation_p.I331N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	491					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CTGGCGGAGATCCACGGTGTG	0.716													22	67					0	0	0	0	A	134017276	T	A	134017276	3	1	408	1	0	0	0	0	1	0	0	0	4785	1435	50	5	1522	5	DPYSL4	10	134017276	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1125811	134017276	1517471	2145	79963											
GPR123	84435	broad.mit.edu	37	chr10	134942243	134942243	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggactcttcgtgctcaTccaccactgcgccaagcgtg	6	9	10	16	3	2	0	1	0	1	0	4	1	3	1	4	1	3	1	4	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:134942243T>A	ENST00000607359.1	+	16	3068	c.3068T>A	c.(3067-3069)aTc>aAc	p.I1023N	GPR123_ENST00000392606.2_Missense_Mutation_p.I207N|GPR123_ENST00000392607.3_Missense_Mutation_p.I304N			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	304						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTCGTGCTCATCCACCACTGC	0.687													4	55					0	0	0	0	A	134942243	T	A	134942243	3	1	408	1	0	0	0	0	1	0	0	0	6686	1435	50	5	933	5	GPR123	10	134942243	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	924967	134942243	592504	2146	79964											
KNDC1	85442	broad.mit.edu	37	chr10	135012647	135012647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctctgtctgccctgcGtggatgcctcgccactccca	4	9	12	16	2	2	0	0	0	2	0	4	2	3	2	4	3	3	1	4	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:135012647G>A	ENST00000304613.3	+	14	2656	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	KNDC1_ENST00000368571.2_Missense_Mutation_p.V814M|KNDC1_ENST00000368572.2_Missense_Mutation_p.V879M			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	879	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCTGCCCTGCGTGGATGCCTC	0.692													3	10					0	0	0	0	A	135012647	G	A	135012647	3	1	408	1	0	0	0	0	1	0	0	0	8478	1145	40	1	2689	1	KNDC1	10	135012647	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	70404	135012647	522100	2147	79965											
KNDC1	85442	broad.mit.edu	37	chr10	135038191	135038191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaggtggtgagccaggtgCacgcgttccaggagaaccct	10	6	14	11	2	0	2	0	1	0	1	1	3	1	2	3	4	3	2	3	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:135038191C>T	ENST00000304613.3	+	30	5068	c.5047C>T	c.(5047-5049)Cac>Tac	p.H1683Y	KNDC1_ENST00000368572.2_Missense_Mutation_p.H1685Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1683	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGCCAGGTGCACGCGTTCCA	0.607													10	51					0	0	0	0	T	135038191	C	T	135038191	3	4	408	1	0	0	0	0	1	0	0	0	8478	710	25	4	5165	4	KNDC1	10	135038191	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	25544	135038191	496556	2148	79966											
KNDC1	85442	broad.mit.edu	37	chr10	135038213	135038213	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcgttccaggagaacccttAcaccttcagccccgacccca	9	6	7	19	3	1	1	1	0	0	1	2	3	2	1	7	1	3	1	7	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:135038213A>G	ENST00000304613.3	+	30	5090	c.5069A>G	c.(5068-5070)tAc>tGc	p.Y1690C	KNDC1_ENST00000368572.2_Missense_Mutation_p.Y1692C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1690	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAACCCTTACACCTTCAGC	0.602													9	52					0	0	0	0	G	135038213	A	G	135038213	3	3	408	1	0	0	0	0	1	0	0	0	8478	391	14	5	5187	5	KNDC1	10	135038213	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	22	135038213	496534	2149	79967											
PAOX	196743	broad.mit.edu	37	chr10	135202471	135202471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgcaggtctgtccacgTtctctgtgggttcattgccg	4	14	11	12	2	3	0	1	0	2	0	6	0	5	0	3	2	2	3	3	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:135202471T>C	ENST00000278060.5	+	5	1216	c.1133T>C	c.(1132-1134)gTt>gCt	p.V378A	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Missense_Mutation_p.F294L|PAOX_ENST00000357296.3_Missense_Mutation_p.V378A|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	516					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TCTGTCCACGTTCTCTGTGGG	0.537													29	543					0	0	0	0	C	135202471	T	C	135202471	3	2	408	1	0	0	0	0	1	0	0	0	11494	1725	60	5	1151	5	PAOX	10	135202471	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	164258	135202471	332276	2150	79968											
NLRP6	171389	broad.mit.edu	37	chr11	285213	285213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactacaggagcttcaggCtgtgaagagagcaaagccgg	12	6	14	9	1	2	2	2	1	0	1	2	4	2	3	1	3	4	3	1	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:285213C>T	ENST00000534750.1	+	8	2790	c.2585C>T	c.(2584-2586)gCt>gTt	p.A862V	NLRP6_ENST00000312165.5_Missense_Mutation_p.A863V	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	863						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCTTCAGGCTGTGAAGAGA	0.612													3	12					0	0	0	0	T	285213	C	T	285213	3	4	408	1	0	0	0	0	1	0	0	0	10551	797	28	4	2618	4	NLRP6	11	285213	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08		285213	134721303	2151	79969											
PKP3	11187	broad.mit.edu	37	chr11	404002	404002	+	Frame_Shift_Del	DEL	C	C	-																															gcagcgtgggtgagaagtcgCccccagccgaggtgctggtc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:404002delC	ENST00000331563.2	+	11	2213	c.2137delC	c.(2137-2139)ccfs	p.P714fs		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	714					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		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)		TGAGAAGTCGCCCCCAGCCGA	0.642													25	63	---	---	---	---					-	404002	C	-	404002	7	5	408	1	0	1	0	1	0	0	0	0	12058	739	26	0	2179	0	PKP3	11	404002	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	118789	404002	134602514	2152	79970											
ANO9	338440	broad.mit.edu	37	chr11	429622	429622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaccacgcgggcgcgcTgccgcttccagatctccagg	6	5	14	16	5	1	1	0	0	1	1	3	2	2	2	4	3	1	3	4	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:429622T>C	ENST00000332826.6	-	11	947	c.863A>G	c.(862-864)cAg>cGg	p.Q288R		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	288						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCGGGCGCGCTGCCGCTTCCA	0.687													16	68					0	0	0	0	C	429622	T	C	429622	3	2	408	1	0	0	0	0	1	0	0	0	703	1580	55	5	1537	5	ANO9	11	429622	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	25620	429622	134576894	2153	79971											
TMEM80	283232	broad.mit.edu	37	chr11	700633	700633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaggtgttcagctatcCtcaccgctacctggtcctcg	6	11	10	14	2	3	0	3	0	0	0	6	0	5	0	4	3	2	3	4	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:700633C>A	ENST00000397512.3	+	4	313	c.203C>A	c.(202-204)cCt>cAt	p.P68H	TMEM80_ENST00000397510.2_Missense_Mutation_p.P76H	NM_001042463.1|NM_174940.2	NP_001035928.1|NP_777600.2	Q96HE8	TMM80_HUMAN	transmembrane protein 80	76						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCAGCTATCCTCACCGCTAC	0.517													155	437					1.57643e-78	1.67363e-78	1	0	A	700633	C	A	700633	3	1	408	1	0	0	0	0	1	0	0	0	16298	681	24	4	241	4	TMEM80	11	700633	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	271011	700633	134305883	2154	79972											
EFCAB4A	283229	broad.mit.edu	37	chr11	828642	828642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcctggggctgatgaggCccaggaggaggagggggaac	11	3	20	7	0	0	2	0	2	0	0	0	6	0	6	2	8	2	1	2	8	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:828642C>T	ENST00000450448.1	+	2	540	c.35C>T	c.(34-36)gCc>gTc	p.A12V	EFCAB4A_ENST00000525077.1_Missense_Mutation_p.A12V|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.A12V|AP006621.8_ENST00000532946.1_RNA	NM_173584.3	NP_775855.3	Q8N4Y2	EFC4A_HUMAN	EF-hand calcium binding domain 4A	12					store-operated calcium entry		calcium ion binding			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGATGAGGCCCAGGAGGAG	0.632													14	46					0	0	0	0	T	828642	C	T	828642	3	4	408	1	0	0	0	0	1	0	0	0	4972	739	26	4	37	4	EFCAB4A	11	828642	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	128009	828642	134177874	2155	79973											
MUC6	4588	broad.mit.edu	37	chr11	1017584	1017584	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttttggccgtgctaaaTgagcttcgggattggctggt	6	13	16	6	2	0	1	0	1	0	0	1	3	0	2	1	5	2	4	1	5	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1017584T>C	ENST00000421673.2	-	31	5267	c.5217A>G	c.(5215-5217)tcA>tcG	p.S1739S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1739	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGTGCTAAATGAGCTTCGGG	0.542													116	799					0	0	0	0	C	1017584	T	C	1017584	2	2	408	1	0	0	0	0	0	0	0	1	10050	1451	51	5		5	MUC6	11	1017584	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	188942	1017584	133988932	2156	79974											
MUC6	4588	broad.mit.edu	37	chr11	1017983	1017983	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgtggtctgagggtgTgatggggttggataggtagt	7	12	21	1	0	1	2	0	2	1	0	1	4	1	4	0	7	0	2	0	7	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1017983T>C	ENST00000421673.2	-	31	4868	c.4818A>G	c.(4816-4818)tcA>tcG	p.S1606S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1606	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGAGGGTGTGATGGGGTTG	0.547													23	465					0	0	0	0	C	1017983	T	C	1017983	2	2	408	1	0	0	0	0	0	0	0	1	10050	1683	59	5		5	MUC6	11	1017983	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	399	1017983	133988533	2157	79975											
MUC5B	727897	broad.mit.edu	37	chr11	1261492	1261492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttggcgcctgcttgaTcgccatctgcggaagcaacg	6	9	14	12	4	1	1	0	1	1	0	2	2	1	2	2	3	4	3	2	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1261492T>C	ENST00000447027.1	+	30	3924	c.3866T>C	c.(3865-3867)aTc>aCc	p.I1289T	MUC5B_ENST00000529681.1_Missense_Mutation_p.I1286T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1286					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCTGCTTGATCGCCATCTGC	0.612													7	61					0	0	0	0	C	1261492	T	C	1261492	3	2	408	1	0	0	0	0	1	0	0	0	10049	1435	50	5	3984	5	MUC5B	11	1261492	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	243509	1261492	133745024	2158	79976											
MUC5B	727897	broad.mit.edu	37	chr11	1268066	1268066	+	Frame_Shift_Del	DEL	C	C	-																															aaccacgggcttcacagccaCcccctcctccagcccaggga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1268066delC	ENST00000447027.1	+	31	10023	c.9965delC	c.(9964-9966)acfs	p.T3322fs	MUC5B_ENST00000529681.1_Frame_Shift_Del_p.T3319fs|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3319	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTCACAGCCACCCCCTCCTCC	0.647													45	107	---	---	---	---					-	1268066	C	-	1268066	7	5	408	1	0	1	0	1	0	0	0	0	10049	507	18	0	10087	0	MUC5B	11	1268066	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	6574	1268066	133738450	2159	79977											
MUC5B	727897	broad.mit.edu	37	chr11	1268602	1268602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcccacaccccagcagcaAccaccagtaccacccagcac	12	3	4	22	0	0	0	0	0	0	0	1	0	1	0	7	0	5	4	7	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1268602A>G	ENST00000447027.1	+	31	10559	c.10501A>G	c.(10501-10503)Acc>Gcc	p.T3501A	MUC5B_ENST00000529681.1_Missense_Mutation_p.T3498A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3498	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCAGCAGCAACCACCAGTAC	0.662													4	266					0	0	0	0	G	1268602	A	G	1268602	3	3	408	1	0	0	0	0	1	0	0	0	10049	43	2	5	10623	5	MUC5B	11	1268602	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	536	1268602	133737914	2160	79978											
MUC5B	727897	broad.mit.edu	37	chr11	1272562	1272562	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactctggggacgacccggAtcctcactgagctgaccaca	9	6	10	16	2	2	2	1	2	1	0	3	5	3	4	4	3	1	1	4	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1272562A>T	ENST00000447027.1	+	31	14519	c.14461A>T	c.(14461-14463)Atc>Ttc	p.I4821F	MUC5B_ENST00000529681.1_Missense_Mutation_p.I4818F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4818	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACGACCCGGATCCTCACTGA	0.627													45	148					0	0	0	0	T	1272562	A	T	1272562	3	4	408	1	0	0	0	0	1	0	0	0	10049	333	12	5	14583	5	MUC5B	11	1272562	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3960	1272562	133733954	2161	79979											
CTSD	1509	broad.mit.edu	37	chr11	1780830	1780830	+	Frame_Shift_Del	DEL	G	G	-																															gaagacgactgtgaagcactGggggggcgtcccgatgccaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1780830delG	ENST00000236671.2	-	3	400	c.268delC	c.(268-270)agfs	p.Q90fs		NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	90					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.Q90fs*50(1)		endometrium(1)|large_intestine(4)|lung(8)	13		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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGAAGCACTGGGGGGGCGTC	0.647													19	81	---	---	---	---					-	1780830	G	-	1780830	7	5	408	1	0	1	0	1	0	0	0	0	4064	1357	47	0	998	0	CTSD	11	1780830	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	508268	1780830	133225686	2162	79980											
TNNI2	7136	broad.mit.edu	37	chr11	1862091	1862093	+	In_Frame_Del	DEL	GAG	GAG	-																															ccaagatcgatgcggctgaaGaggagaagtacgacatggag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1862091_1862093delGAG	ENST00000381906.1	+	6	298_300	c.229_231delGAG	c.(229-231)del	p.E78del	TNNI2_ENST00000381911.1_In_Frame_Del_p.E78del|TNNI2_ENST00000252898.7_In_Frame_Del_p.E78del|TNNI2_ENST00000381905.3_In_Frame_Del_p.E78del	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	78					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|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)		TGCGGCTGAAGAGGAGAAGTACG	0.68													17	47	---	---	---	---					-	1862093	GAG	-	1862091	7	5	408	1	0	1	0	1	0	0	0	0	16421	943	33	0	262	0	TNNI2	11	1862091	In_Frame_Del	DEL	GAG	TCGA-F7-A624-01A-22D-A30E-08	81261	1862091	133144425	2163	79981											
TNNI2	7136	broad.mit.edu	37	chr11	1862298	1862298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagctatttgatctgcgggGcaagttcaagcggcccccac	9	8	12	12	2	2	1	1	1	1	0	2	2	2	1	2	3	3	3	2	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1862298G>C	ENST00000381906.1	+	7	383	c.314G>C	c.(313-315)gGc>gCc	p.G105A	TNNI2_ENST00000381911.1_Missense_Mutation_p.G105A|TNNI2_ENST00000381905.3_Missense_Mutation_p.G105A|TNNI2_ENST00000252898.7_Missense_Mutation_p.G105A	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	105	Involved in binding TNC and actin.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|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)		GATCTGCGGGGCAAGTTCAAG	0.677													9	32					0	0	0	0	C	1862298	G	C	1862298	3	2	408	1	0	0	0	0	1	0	0	0	16421	1203	42	4	351	4	TNNI2	11	1862298	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	207	1862298	133144218	2164	79982											
TNNT3	7140	broad.mit.edu	37	chr11	1957456	1957456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctagatcatgaatgtcCgggccagagtgcagatgctg	9	11	12	9	1	2	4	1	1	1	3	3	4	3	4	2	1	2	2	2	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1957456C>T	ENST00000360603.3	+	14	888	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000397301.1_Intron|TNNT3_ENST00000381548.3_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000278317.6_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000446240.1_Missense_Mutation_p.R213W|TNNT3_ENST00000381579.3_Missense_Mutation_p.R224W			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	243					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CATGAATGTCCGGGCCAGAGT	0.627													21	58					0	0	0	0	T	1957456	C	T	1957456	3	4	408	1	0	0	0	0	1	0	0	0	16426	643	23	1	789	1	TNNT3	11	1957456	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	95158	1957456	133049060	2165	79983											
MRPL23	6150	broad.mit.edu	37	chr11	1977618	1977618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagcagcgacccgcggCggggcggcgtccccagctgg	5	2	19	15	6	0	1	0	0	0	1	1	2	1	1	3	6	3	3	3	6	0	0	rs144125617	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1977618C>T	ENST00000397298.3	+	5	515	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.R144W|MRPL23_ENST00000397297.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	144					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGACCCGCGGCGGGGCGGCGT	0.721													18	46					0	0	0	0	T	1977618	C	T	1977618	3	4	408	1	0	0	0	0	1	0	0	0	9859	759	27	1	448	1	MRPL23	11	1977618	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	20162	1977618	133028898	2166	79984											
IGF2	3481	broad.mit.edu	37	chr11	2154836	2154836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggccaggtcacagctgcGgaaacagcactcctcaacga	12	4	12	13	2	2	0	2	0	0	0	3	3	3	1	2	3	5	2	2	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:2154836G>A	ENST00000416167.2	-	3	1383	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	IGF2_ENST00000337883.6_Missense_Mutation_p.R73C|IGF2_ENST00000381406.4_Missense_Mutation_p.R76C|IGF2_ENST00000381389.1_Missense_Mutation_p.R73C|IGF2_ENST00000381392.1_Missense_Mutation_p.R76C|IGF2_ENST00000300632.5_Missense_Mutation_p.R73C|IGF2_ENST00000434045.2_Missense_Mutation_p.R129C|IGF2_ENST00000381395.1_Missense_Mutation_p.R73C|IGF2_ENST00000418738.2_Missense_Mutation_p.R73C			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	73	A.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCACAGCTGCGGAAACAGCAC	0.657													17	33					0	0	0	0	A	2154836	G	A	2154836	3	1	408	1	0	0	0	0	1	0	0	0	7625	1116	39	1	333	1	IGF2	11	2154836	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	177218	2154836	132851680	2167	79985											
NAP1L4	4676	broad.mit.edu	37	chr11	2975794	2975794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccccagtgaagtacAgcacagcccgcgggactatc	9	6	11	15	2	0	1	0	1	0	0	2	2	1	2	4	2	3	2	4	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:2975794A>G	ENST00000380542.4	-	12	1138	c.998T>C	c.(997-999)cTg>cCg	p.L333P	NAP1L4_ENST00000526115.1_Missense_Mutation_p.L333P	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	333					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AGTGAAGTACAGCACAGCCCG	0.507													18	70					0	0	0	0	G	2975794	A	G	2975794	3	3	408	1	0	0	0	0	1	0	0	0	10229	188	7	5	145	5	NAP1L4	11	2975794	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	820958	2975794	132030722	2168	79986											
OSBPL5	114879	broad.mit.edu	37	chr11	3128514	3128514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagctcctcctggacCtgctccacataggtggtccc	5	9	8	19	0	0	0	0	0	0	0	5	1	5	1	7	3	2	2	7	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:3128514C>A	ENST00000263650.7	-	9	1197	c.1038G>T	c.(1036-1038)caG>caT	p.Q346H	OSBPL5_ENST00000389989.3_Missense_Mutation_p.Q278H|OSBPL5_ENST00000348039.5_Missense_Mutation_p.Q278H|OSBPL5_ENST00000525498.1_Missense_Mutation_p.Q257H|OSBPL5_ENST00000542243.1_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	346					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTCCTGGACCTGCTCCACAT	0.672													32	117					3.03874e-20	3.202e-20	1	0	A	3128514	C	A	3128514	3	1	408	1	0	0	0	0	1	0	0	0	11351	680	24	4	1657	4	OSBPL5	11	3128514	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	152720	3128514	131878002	2169	79987											
OSBPL5	114879	broad.mit.edu	37	chr11	3141689	3141689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatccagcgggtggaagaGcttgaagcagaagccgtcct	10	7	14	10	2	0	4	0	2	0	2	2	5	2	5	3	2	4	2	3	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:3141689G>A	ENST00000263650.7	-	6	727	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F	OSBPL5_ENST00000389989.3_Intron|OSBPL5_ENST00000348039.5_Intron|OSBPL5_ENST00000525498.1_Intron|OSBPL5_ENST00000542243.1_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	190	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGGTGGAAGAGCTTGAAGCAG	0.647													13	56					0	0	0	0	A	3141689	G	A	3141689	3	1	408	1	0	0	0	0	1	0	0	0	11351	971	34	4	2139	4	OSBPL5	11	3141689	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	13175	3141689	131864827	2170	79988											
ZNF195	7748	broad.mit.edu	37	chr11	3392921	3392921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctatggccacatccctgaAcgtcaacagagtctgaagaa	13	9	8	11	1	3	4	1	2	2	2	4	4	4	4	2	1	2	0	2	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:3392921A>G	ENST00000354599.6	-	2	120	c.16T>C	c.(16-18)Ttc>Ctc	p.F6L	ZNF195_ENST00000528796.1_Missense_Mutation_p.F6L|ZNF195_ENST00000429541.2_Missense_Mutation_p.F10L|ZNF195_ENST00000343338.7_Missense_Mutation_p.F10L|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000399602.4_Missense_Mutation_p.F6L|ZNF195_ENST00000526601.1_Missense_Mutation_p.F10L|ZNF195_ENST00000438262.2_Missense_Mutation_p.F10L|ZNF195_ENST00000005082.9_Missense_Mutation_p.F6L	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCCCTGAACGTCAACAGA	0.443													4	124					0	0	0	0	G	3392921	A	G	3392921	3	3	408	1	0	0	0	0	1	0	0	0	17853	43	2	5	1893	5	ZNF195	11	3392921	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	251232	3392921	131613595	2171	79989											
CHRNA10	57053	broad.mit.edu	37	chr11	3688681	3688681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcgtgaaggtgaCgtcggggtagggctcggagc	8	5	19	9	4	0	2	0	2	0	0	2	3	0	3	0	5	4	4	0	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:3688681C>T	ENST00000250699.2	-	4	747	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	CHRNA10_ENST00000534359.1_Silent_p.T43T	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	226					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GTGAAGGTGACGTCGGGGTAG	0.716													4	32					0	0	0	0	T	3688681	C	T	3688681	3	4	408	1	0	0	0	0	1	0	0	0	3411	536	19	1	684	1	CHRNA10	11	3688681	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	295760	3688681	131317835	2172	79990											
OR52R1	119695	broad.mit.edu	37	chr11	4825605	4825605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgttccctgaagccagCaccatggactggttaatatg	10	10	11	10	0	0	1	0	1	0	0	1	3	1	2	3	2	3	4	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:4825605C>T	ENST00000380382.1	-	1	242	c.243G>A	c.(241-243)gtG>gtA	p.V81V	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Silent_p.V2V|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAAGCCAGCACCATGGACT	0.458													12	74					0	0	0	0	T	4825605	C	T	4825605	2	4	408	1	0	0	0	0	0	0	0	1	11202	697	25	4		4	OR52R1	11	4825605	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1136924	4825605	130180911	2173	79991											
OR51S1	119692	broad.mit.edu	37	chr11	4870327	4870327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggtagacagcaatgagggGcaatgtccaccaggagggtg	13	5	16	7	0	0	2	0	1	0	1	1	3	1	3	2	5	1	3	2	5	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:4870327G>A	ENST00000322101.2	-	1	187	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAATGAGGGGCAATGTCCAC	0.582													26	96					0	0	0	0	A	4870327	G	A	4870327	3	1	408	1	0	0	0	0	1	0	0	0	11176	1203	42	4	862	4	OR51S1	11	4870327	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	44722	4870327	130136189	2174	79992											
OR52J3	119679	broad.mit.edu	37	chr11	5067889	5067889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtggctttgctgggcaatgCcaccattctgctagtcatca	7	13	10	11	0	3	0	2	0	1	0	3	0	3	0	2	2	3	4	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5067889C>T	ENST00000380370.1	+	1	134	c.134C>T	c.(133-135)gCc>gTc	p.A45V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGCAATGCCACCATTCTG	0.493													19	65					0	0	0	0	T	5067889	C	T	5067889	3	4	408	1	0	0	0	0	1	0	0	0	11193	739	26	4	136	4	OR52J3	11	5067889	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	197562	5067889	129938627	2175	79993											
OR52A1	23538	broad.mit.edu	37	chr11	5172715	5172715	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgtggtctttgcaccAtagacaagtggattgagaaa	12	12	11	6	0	2	2	0	1	2	2	2	4	2	3	1	2	1	1	1	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5172715A>G	ENST00000380367.1	-	2	1302	c.885T>C	c.(883-885)taT>taC	p.Y295Y	OR52A1_ENST00000328942.1_Silent_p.Y295Y			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	295					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTTGCACCATAGACAAGTG	0.383													44	138					0	0	0	0	G	5172715	A	G	5172715	2	3	408	1	0	0	0	0	0	0	0	1	11179	224	8	5		5	OR52A1	11	5172715	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	104826	5172715	129833801	2176	79994											
OR52B6	340980	broad.mit.edu	37	chr11	5602245	5602245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaactacatatctggCtgtccatccccttctgcatc	8	12	7	14	0	2	0	0	0	2	0	5	1	4	1	3	2	4	3	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5602245C>T	ENST00000345043.2	+	1	139	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATATCTGGCTGTCCATCCC	0.507													14	64					0	0	0	0	T	5602245	C	T	5602245	2	4	408	1	0	0	0	0	0	0	0	1	11184	796	28	4		4	OR52B6	11	5602245	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	429530	5602245	129404271	2177	79995											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5653492	5653492	+	Frame_Shift_Del	DEL	G	G	-																															tcaatcttctcagccatccaGgggtctttaaccagaagaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5653492delG	ENST00000354852.5	+	8	1166	c.993delG	c.(991-993)cafs	p.Q331fs	HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_5'UTR|TRIM34_ENST00000514226.1_5'UTR	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		331						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CAGCCATCCAGGGGTCTTTAA	0.438											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	124	---	---	---	---					-	5653492	G	-	5653492	7	5	408	1	0	1	0	1	0	0	0	0	16629	991	35	0	1023	0	TRIM6-TRIM34	11	5653492	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	51247	5653492	129353024	2178	79996											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5653605	5653605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacaagaggaggtgacctGtcccatctgcctggagctgt	8	9	13	11	1	1	2	0	1	1	1	2	4	2	4	3	3	3	2	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5653605G>A	ENST00000354852.5	+	8	1279	c.1106G>A	c.(1105-1107)tGt>tAt	p.C369Y	TRIM34_ENST00000514226.1_Missense_Mutation_p.C15Y|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.C15Y|TRIM34_ENST00000429814.2_Missense_Mutation_p.C15Y	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		369						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GAGGTGACCTGTCCCATCTGC	0.537											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	34	117					0	0	0	0	A	5653605	G	A	5653605	3	1	408	1	0	0	0	0	1	0	0	0	16629	1377	48	4	1136	4	TRIM6-TRIM34	11	5653605	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	113	5653605	129352911	2179	79997											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5655876	5655876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagtatcaggtacaaactGagagacaaaggatacaaaca	19	6	9	7	0	1	2	1	1	0	1	1	4	1	3	0	2	5	3	0	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5655876G>A	ENST00000354852.5	+	10	1770	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	TRIM34_ENST00000514226.1_Missense_Mutation_p.E179K|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.E179K|TRIM34_ENST00000429814.2_Missense_Mutation_p.E179K	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		533						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGTACAAACTGAGAGACAAAG	0.413													8	39					0	0	0	0	A	5655876	G	A	5655876	3	1	408	1	0	0	0	0	1	0	0	0	16629	1291	45	2	1635	2	TRIM6-TRIM34	11	5655876	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2271	5655876	129350640	2180	79998											
OR52N4	390072	broad.mit.edu	37	chr11	5776763	5776763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccttcttttcccacCgctttggggaacacataatc	7	15	5	14	1	3	0	0	0	3	0	6	1	4	1	3	2	1	1	3	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5776763C>T	ENST00000317254.3	+	1	841	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTTTTCCCACCGCTTTGGGGA	0.473													34	143					0	0	0	0	T	5776763	C	T	5776763	3	4	408	1	0	0	0	0	1	0	0	0	11200	652	23	1	795	1	OR52N4	11	5776763	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	120887	5776763	129229753	2181	79999											
OR52N5	390075	broad.mit.edu	37	chr11	5799574	5799574	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagttaatttctttgagActgaaccagaagatgcagag	14	12	10	5	0	1	6	0	3	1	4	1	7	1	6	1	0	2	2	1	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5799574A>G	ENST00000317093.2	-	1	323	c.291T>C	c.(289-291)agT>agC	p.S97S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTCTTTGAGACTGAACCAGA	0.473													17	82					0	0	0	0	G	5799574	A	G	5799574	2	3	408	1	0	0	0	0	0	0	0	1	11201	272	10	5		5	OR52N5	11	5799574	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	22811	5799574	129206942	2182	80000											
OR56B4	196335	broad.mit.edu	37	chr11	6129910	6129910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtgcactcaggatgcAcaaactcagactgggctttc	9	9	11	12	0	2	1	2	0	0	1	3	2	2	2	1	3	3	3	1	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6129910A>G	ENST00000316529.3	+	1	997	c.902A>G	c.(901-903)cAc>cGc	p.H301R	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGGATGCACAAACTCAGA	0.493													54	118					0	0	0	0	G	6129910	A	G	6129910	3	3	408	1	0	0	0	0	1	0	0	0	11209	159	6	5	904	5	OR56B4	11	6129910	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	330336	6129910	128876606	2183	80001											
SMPD1	6609	broad.mit.edu	37	chr11	6412943	6412943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgggatcatgactacctGgagggcacggaccctgactg	9	7	13	12	1	1	2	1	2	0	0	1	5	1	5	2	4	1	1	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6412943G>A	ENST00000342245.4	+	2	816	c.648G>A	c.(646-648)ctG>ctA	p.L216L	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Silent_p.L215L|SMPD1_ENST00000356761.2_Silent_p.L216L|SMPD1_ENST00000299397.3_Silent_p.L216L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	214					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	ATGACTACCTGGAGGGCACGG	0.682													10	54					0	0	0	0	A	6412943	G	A	6412943	2	1	408	1	0	0	0	0	0	0	0	1	14892	1335	47	4		4	SMPD1	11	6412943	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	283033	6412943	128593573	2184	80002											
SMPD1	6609	broad.mit.edu	37	chr11	6414558	6414558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcaactccacggatcccGcaggacagctccagtggctg	9	7	11	14	2	1	1	1	1	0	0	4	3	4	3	3	3	2	3	3	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6414558G>A	ENST00000342245.4	+	3	1372	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	SMPD1_ENST00000527275.1_Missense_Mutation_p.A401T|SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000299397.3_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	400					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CACGGATCCCGCAGGACAGCT	0.562													12	35					0	0	0	0	A	6414558	G	A	6414558	3	1	408	1	0	0	0	0	1	0	0	0	14892	1087	38	1	1254	1	SMPD1	11	6414558	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1615	6414558	128591958	2185	80003											
TAF10	6881	broad.mit.edu	37	chr11	6632999	6632999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggcagtacgtaaacccCgttagatatggccccctccg	8	8	10	15	4	0	1	0	0	0	1	2	1	1	1	5	2	2	5	5	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6632999C>A	ENST00000299424.4	-	2	760	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	95					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACGTAAACCCCGTTAGATATG	0.647													8	23					5.18039e-06	5.29904e-06	1	0	A	6632999	C	A	6632999	3	1	408	1	0	0	0	0	1	0	0	0	15605	652	23	3	389	3	TAF10	11	6632999	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	218441	6632999	128373517	2186	80004											
TPP1	1200	broad.mit.edu	37	chr11	6636694	6636694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtatgaaggccgtgggaaCacattgctgaagccaccacc	11	7	12	11	1	0	2	0	2	0	0	0	3	0	3	4	3	3	2	4	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6636694C>T	ENST00000533371.1	-	9	1314	c.516G>A	c.(514-516)gtG>gtA	p.V172V	TPP1_ENST00000299427.6_Silent_p.V415V			O14773	TPP1_HUMAN	tripeptidyl peptidase I	415					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GCCGTGGGAACACATTGCTGA	0.527													16	50					0	0	0	0	T	6636694	C	T	6636694	2	4	408	1	0	0	0	0	0	0	0	1	16506	465	17	4		4	TPP1	11	6636694	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3695	6636694	128369822	2187	80005											
OR2AG2	338755	broad.mit.edu	37	chr11	6790040	6790040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggagccgggcttctatgGtgatggccaggagcagcaga	8	8	17	8	1	1	2	0	1	1	1	1	4	1	4	2	5	3	3	2	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6790040G>T	ENST00000338569.2	-	1	246	c.149C>A	c.(148-150)aCc>aAc	p.T50N		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCTTCTATGGTGATGGCCAG	0.527													28	114					2.41591e-17	2.54096e-17	1	0	T	6790040	G	T	6790040	3	4	408	1	0	0	0	0	1	0	0	0	11056	1261	44	4	805	4	OR2AG2	11	6790040	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	153346	6790040	128216476	2188	80006											
RBMXL2	27288	broad.mit.edu	37	chr11	7110662	7110662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccgcagccgcggtcGcccgaggttcctgcgcggaa	4	5	14	18	7	0	0	0	0	0	0	3	2	2	1	6	3	2	2	6	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:7110662G>A	ENST00000306904.5	+	1	498	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	104	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCGCGGTCGCCCGAGGTTC	0.751													3	5					0	0	0	0	A	7110662	G	A	7110662	3	1	408	1	0	0	0	0	1	0	0	0	13236	1087	38	1	313	1	RBMXL2	11	7110662	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	320622	7110662	127895854	2189	80007											
RBMXL2	27288	broad.mit.edu	37	chr11	7111242	7111242	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcgccgccccaggacggggGacaccgccatcttacggagg	7	3	16	15	5	1	0	0	0	1	0	1	3	1	3	5	6	1	0	5	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:7111242G>A	ENST00000306904.5	+	1	1078	c.891G>A	c.(889-891)ggG>ggA	p.G297G		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	297	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.G297V(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)		CAGGACGGGGGACACCGCCAT	0.657													17	33					0	0	0	0	A	7111242	G	A	7111242	2	1	408	1	0	0	0	0	0	0	0	1	13236	1161	41	2		2	RBMXL2	11	7111242	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	580	7111242	127895274	2190	80008											
RIC3	79608	broad.mit.edu	37	chr11	8161539	8161539	+	Frame_Shift_Del	DEL	A	A	-																															atagaatgtacagtatatatAaaaaaatcccaaaaccgtag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:8161539delA	ENST00000343202.4	-	2	391	c.326delT	c.(325-327)tafs	p.L109fs	RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000309737.6_Frame_Shift_Del_p.L109fs|RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000335425.7_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	109						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTATATATAAAAAAATCCC	0.353													13	74	---	---	---	---					-	8161539	A	-	8161539	7	5	408	1	0	1	0	1	0	0	0	0	13437	372	13	0	800	0	RIC3	11	8161539	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	1050297	8161539	126844977	2191	80009											
RIC3	79608	broad.mit.edu	37	chr11	8161645	8161645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggcctttgcaaatgcctCggcaaggtgagacctctgga	8	11	12	10	1	1	1	0	1	1	1	2	3	1	2	3	4	2	2	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:8161645C>T	ENST00000343202.4	-	2	285	c.220G>A	c.(220-222)Gag>Aag	p.E74K	RIC3_ENST00000425599.2_Missense_Mutation_p.E74K|RIC3_ENST00000539720.1_Missense_Mutation_p.E25K|RIC3_ENST00000419822.2_Missense_Mutation_p.E74K|RIC3_ENST00000309737.6_Missense_Mutation_p.E74K|RIC3_ENST00000335425.7_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	74						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GCAAATGCCTCGGCAAGGTGA	0.537													27	98					0	0	0	0	T	8161645	C	T	8161645	3	4	408	1	0	0	0	0	1	0	0	0	13437	893	31	1	906	1	RIC3	11	8161645	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	106	8161645	126844871	2192	80010											
STK33	65975	broad.mit.edu	37	chr11	8479020	8479020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaagctccatcacaaggtAcattttctgacattatatat	15	13	4	9	0	2	1	1	1	1	0	3	1	3	1	1	1	2	2	1	1	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:8479020A>G	ENST00000447869.1	-	5	1483	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	STK33_ENST00000315204.1_Missense_Mutation_p.Y189H|STK33_ENST00000534493.1_Missense_Mutation_p.Y148H|STK33_ENST00000396673.1_Missense_Mutation_p.Y189H|STK33_ENST00000358872.3_Missense_Mutation_p.Y2H|STK33_ENST00000396672.1_Missense_Mutation_p.Y189H			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	189	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ATCACAAGGTACATTTTCTGA	0.338													16	41					0	0	0	0	G	8479020	A	G	8479020	3	3	408	1	0	0	0	0	1	0	0	0	15390	391	14	5	1011	5	STK33	11	8479020	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	317375	8479020	126527496	2193	80011											
ST5	6764	broad.mit.edu	37	chr11	8752085	8752085	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagccggtagaaagagTcccggacagggagcgcctct	9	6	13	13	3	2	2	0	0	2	2	4	4	3	4	4	3	2	1	4	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:8752085T>A	ENST00000534127.1	-	6	1137	c.752A>T	c.(751-753)gAc>gTc	p.D251V	ST5_ENST00000357665.1_Missense_Mutation_p.D251V|ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.D251V|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	251					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTAGAAAGAGTCCCGGACAGG	0.627													37	107					0	0	0	0	A	8752085	T	A	8752085	3	1	408	1	0	0	0	0	1	0	0	0	15310	1667	58	5	2733	5	ST5	11	8752085	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	273065	8752085	126254431	2194	80012											
SCUBE2	57758	broad.mit.edu	37	chr11	9068952	9068952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actccacaggactctgcctgGcgttcagatgttctgggagg	7	10	13	11	1	3	1	1	0	2	1	4	3	4	3	2	4	1	2	2	4	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:9068952G>A	ENST00000457346.2	-	16	2027	c.1953C>T	c.(1951-1953)cgC>cgT	p.R651R	SCUBE2_ENST00000309263.3_Silent_p.R622R|SCUBE2_ENST00000450649.2_Silent_p.R496R|SCUBE2_ENST00000520467.1_Silent_p.R651R|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	622						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACTCTGCCTGGCGTTCAGATG	0.557													5	85					0	0	0	0	A	9068952	G	A	9068952	2	1	408	1	0	0	0	0	0	0	0	1	14032	1190	42	4		4	SCUBE2	11	9068952	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	316867	9068952	125937564	2195	80013											
MICAL2	9645	broad.mit.edu	37	chr11	12241954	12241954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcggccctggtgcgggaGcggcaggcgcaccagctgct	6	4	17	14	5	0	0	0	0	0	0	0	1	0	1	2	5	5	4	2	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:12241954G>A	ENST00000256194.4	+	9	1443	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	MICAL2_ENST00000537344.1_Silent_p.E385E|MICAL2_ENST00000379612.3_Silent_p.E385E|MICAL2_ENST00000342902.5_Silent_p.E385E|MICAL2_ENST00000527546.1_Silent_p.E385E	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	385						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGTGCGGGAGCGGCAGGCGC	0.587													31	79					0	0	0	0	A	12241954	G	A	12241954	2	1	408	1	0	0	0	0	0	0	0	1	9639	962	34	4		4	MICAL2	11	12241954	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3173002	12241954	122764562	2196	80014											
SOX6	55553	broad.mit.edu	37	chr11	15994655	15994655	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgattggaatctgaggctgTtgcctatatagattcaagaa	12	13	11	5	0	2	4	1	2	1	2	2	5	2	5	1	2	1	2	1	2	6	6	rs79401318		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:15994655T>C	ENST00000352083.6	-	16	2264	c.2187A>G	c.(2185-2187)caA>caG	p.Q729Q	SOX6_ENST00000396356.3_Silent_p.Q709Q|SOX6_ENST00000528429.1_Silent_p.Q729Q|SOX6_ENST00000528252.1_Silent_p.Q702Q|SOX6_ENST00000527619.1_Silent_p.Q705Q|SOX6_ENST00000316399.6_Silent_p.Q709Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	729					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTGAGGCTGTTGCCTATATA	0.423													12	39					0	0	0	0	C	15994655	T	C	15994655	2	2	408	1	0	0	0	0	0	0	0	1	15043	1722	60	5		5	SOX6	11	15994655	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3752701	15994655	119011861	2197	80015											
SOX6	55553	broad.mit.edu	37	chr11	16010593	16010593	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggggaaggcctgaaggAtttttctcctctcatccttt	6	15	10	10	1	2	1	1	1	2	0	6	3	3	3	3	4	0	0	3	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:16010593A>T	ENST00000352083.6	-	14	1993	c.1916T>A	c.(1915-1917)aTc>aAc	p.I639N	SOX6_ENST00000396356.3_Missense_Mutation_p.I619N|SOX6_ENST00000528429.1_Missense_Mutation_p.I639N|SOX6_ENST00000528252.1_Missense_Mutation_p.I612N|SOX6_ENST00000527619.1_Missense_Mutation_p.I615N|SOX6_ENST00000316399.6_Missense_Mutation_p.I619N			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	639					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGCCTGAAGGATTTTTCTCCT	0.517											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	184					0	0	0	0	T	16010593	A	T	16010593	3	4	408	1	0	0	0	0	1	0	0	0	15043	333	12	5	582	5	SOX6	11	16010593	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	15938	16010593	118995923	2198	80016											
PLEKHA7	144100	broad.mit.edu	37	chr11	16812423	16812423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgtccccgctgagggTcgccagctcaggctcactga	6	7	13	15	2	2	2	2	2	0	0	4	2	3	2	4	3	1	3	4	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:16812423T>C	ENST00000355661.3	-	21	2984	c.2974A>G	c.(2974-2976)Acc>Gcc	p.T992A	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T993A|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T992A			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	992					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCGCTGAGGGTCGCCAGCTCA	0.647													5	17					0	0	0	0	C	16812423	T	C	16812423	3	2	408	1	0	0	0	0	1	0	0	0	12133	1667	58	5	403	5	PLEKHA7	11	16812423	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	801830	16812423	118194093	2199	80017											
SERGEF	26297	broad.mit.edu	37	chr11	18010233	18010233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctattttctggggcacaGgaaggaaagcagcctcatta	11	11	10	9	0	3	0	1	0	2	0	3	2	3	2	1	4	2	2	1	4	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18010233G>T	ENST00000265965.5	-	8	906	c.755C>A	c.(754-756)cCt>cAt	p.P252H	SERGEF_ENST00000528200.1_Missense_Mutation_p.P252H|SERGEF_ENST00000532265.1_Missense_Mutation_p.P138H	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	252					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGGGGCACAGGAAGGAAAGC	0.473													20	56					8.10497e-08	8.33977e-08	1	0	T	18010233	G	T	18010233	3	4	408	1	0	0	0	0	1	0	0	0	14164	1000	35	4	637	4	SERGEF	11	18010233	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1197810	18010233	116996283	2200	80018											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159410	18159410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacgtgaccatcctcctcAcagtgctggtcttcctcctc	5	13	7	16	1	2	1	1	1	1	0	7	1	6	1	5	1	2	2	5	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18159410A>G	ENST00000396275.2	+	3	1022	c.661A>G	c.(661-663)Aca>Gca	p.T221A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	221						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CATCCTCCTCACAGTGCTGGT	0.552													27	77					0	0	0	0	G	18159410	A	G	18159410	3	3	408	1	0	0	0	0	1	0	0	0	9838	159	6	5	663	5	MRGPRX3	11	18159410	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	149177	18159410	116847106	2201	80019											
HPS5	11234	broad.mit.edu	37	chr11	18319255	18319255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatttatctgcagtcaaagTttttcttgcctaataaaaca	14	15	4	8	0	3	0	1	0	2	0	3	0	3	0	1	0	3	2	1	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18319255T>C	ENST00000396253.3	-	10	1294	c.832A>G	c.(832-834)Act>Gct	p.T278A	HPS5_ENST00000531848.1_Missense_Mutation_p.T278A|HPS5_ENST00000438420.2_Missense_Mutation_p.T278A|HPS5_ENST00000349215.3_Missense_Mutation_p.T392A	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	392						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCAGTCAAAGTTTTTCTTGCC	0.368									Hermansky-Pudlak syndrome				6	99					0	0	0	0	C	18319255	T	C	18319255	3	2	408	1	0	0	0	0	1	0	0	0	7392	1725	60	5	2267	5	HPS5	11	18319255	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	159845	18319255	116687261	2202	80020											
HPS5	11234	broad.mit.edu	37	chr11	18332378	18332378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatagctgtatcccagcaGagagctgtgactcttcggcc	10	9	11	11	1	1	3	0	1	1	2	3	4	2	3	2	1	3	4	2	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18332378G>A	ENST00000396253.3	-	4	507	c.45C>T	c.(43-45)ctC>ctT	p.L15L	HPS5_ENST00000531848.1_Silent_p.L15L|HPS5_ENST00000438420.2_Silent_p.L15L|HPS5_ENST00000349215.3_Silent_p.L129L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	129						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATCCCAGCAGAGAGCTGTGA	0.428									Hermansky-Pudlak syndrome				21	61					0	0	0	0	A	18332378	G	A	18332378	2	1	408	1	0	0	0	0	0	0	0	1	7392	929	33	2		2	HPS5	11	18332378	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	13123	18332378	116674138	2203	80021											
LDHA	3939	broad.mit.edu	37	chr11	18428863	18428863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcatttcactgtctaggCtacaacaggattctaggtgg	11	13	9	8	0	4	0	2	0	2	0	4	1	4	1	0	4	2	1	0	4	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18428863C>T	ENST00000396222.2	+	7	864	c.765C>T	c.(763-765)ggC>ggT	p.G255G	LDHA_ENST00000422447.3_3'UTR|LDHA_ENST00000227157.4_3'UTR|LDHA_ENST00000540430.1_3'UTR|LDHA_ENST00000379412.5_3'UTR|LDHA_ENST00000430553.2_3'UTR	NM_001165415.1	NP_001158887.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	0					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	ACTGTCTAGGCTACAACAGGA	0.398													10	48					0	0	0	0	T	18428863	C	T	18428863	2	4	408	1	0	0	0	0	0	0	0	1	8751	784	28	4		4	LDHA	11	18428863	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	96485	18428863	116577653	2204	80022											
UEVLD	55293	broad.mit.edu	37	chr11	18587996	18587996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttgaaacttggcaatcaTttctttaattaatccaacaa	14	15	3	9	0	3	1	1	1	2	0	4	1	4	1	1	1	2	1	1	1	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18587996T>C	ENST00000396197.3	-	5	419	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000543987.1_Missense_Mutation_p.M131V|UEVLD_ENST00000300038.7_Missense_Mutation_p.M131V|UEVLD_ENST00000320750.6_Missense_Mutation_p.M109V|UEVLD_ENST00000535484.1_Missense_Mutation_p.M93V|UEVLD_ENST00000379387.4_Missense_Mutation_p.M109V|UEVLD_ENST00000540666.1_5'UTR	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	131	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTGGCAATCATTTCTTTAATT	0.353													14	45					0	0	0	0	C	18587996	T	C	18587996	3	2	408	1	0	0	0	0	1	0	0	0	17029	1493	52	5	1056	5	UEVLD	11	18587996	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	159133	18587996	116418520	2205	80023											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636367	18636367	+	Frame_Shift_Del	DEL	G	G	-																															ggccactgacagaccgccccGgggggcccaagccactcact																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18636367delG	ENST00000336349.5	-	3	1689	c.1454delC	c.(1453-1455)cgfs	p.P485fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	485	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGACCGCCCCGGGGGGCCCAA	0.597													17	69	---	---	---	---					-	18636367	G	-	18636367	7	5	408	1	0	1	0	1	0	0	0	0	15216	1116	39	0	619	0	SPTY2D1	11	18636367	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	48371	18636367	116370149	2206	80024											
IGSF22	283284	broad.mit.edu	37	chr11	18735645	18735645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctaccttcacagtgaTggcgtgcgcagccagtgcct	6	9	13	13	2	1	1	1	1	0	0	1	1	1	1	4	2	4	1	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18735645T>C	ENST00000513874.1	-	14	1988	c.1849A>G	c.(1849-1851)Atc>Gtc	p.I617V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	617	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCACAGTGATGGCGTGCGCA	0.612													35	101					0	0	0	0	C	18735645	T	C	18735645	3	2	408	1	0	0	0	0	1	0	0	0	7653	1464	51	5	2171	5	IGSF22	11	18735645	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	99278	18735645	116270871	2207	80025											
IGSF22	283284	broad.mit.edu	37	chr11	18743175	18743175	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttccaggagatgtggggTttggcgttcccctgcacccg	4	11	13	13	2	1	1	0	0	1	1	3	2	3	1	4	4	1	3	4	4	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18743175T>C	ENST00000513874.1	-	4	424	c.285A>G	c.(283-285)aaA>aaG	p.K95K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	95	Ig-like 1.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGATGTGGGGTTTGGCGTTCC	0.597											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	136					0	0	0	0	C	18743175	T	C	18743175	2	2	408	1	0	0	0	0	0	0	0	1	7653	1722	60	5		5	IGSF22	11	18743175	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7530	18743175	116263341	2208	80026											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955510	18955510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctgcctaaaggagcccacGaagaagtaaatgatggggtt	13	7	13	8	2	0	2	0	1	0	1	0	4	0	3	2	3	2	3	2	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18955510G>A	ENST00000302797.3	-	1	1046	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512													26	57					0	0	0	0	A	18955510	G	A	18955510	2	1	408	1	0	0	0	0	0	0	0	1	9836	1049	37	1		1	MRGPRX1	11	18955510	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	212335	18955510	116051006	2209	80027											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955628	18955628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccataaaaataggaaaaacTgaatgccaaagggcaggcca	19	5	9	8	0	0	1	0	1	0	0	1	2	1	2	3	3	2	1	3	3	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18955628T>C	ENST00000302797.3	-	1	928	c.704A>G	c.(703-705)cAg>cGg	p.Q235R		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	235					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAGGAAAAACTGAATGCCAAA	0.478													7	45					0	0	0	0	C	18955628	T	C	18955628	3	2	408	1	0	0	0	0	1	0	0	0	9836	1580	55	5	268	5	MRGPRX1	11	18955628	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	118	18955628	116050888	2210	80028											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077629	19077629	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggcacaggtcatcacAgtggtgaagaagctagggaa	14	6	15	6	0	2	2	2	1	0	1	2	3	2	3	0	5	1	3	0	5	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:19077629A>G	ENST00000329773.2	-	2	408	c.321T>C	c.(319-321)acT>acC	p.T107T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	107					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGGTCATCACAGTGGTGAAGA	0.547													19	110					0	0	0	0	G	19077629	A	G	19077629	2	3	408	1	0	0	0	0	0	0	0	1	9837	175	7	5		5	MRGPRX2	11	19077629	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	122001	19077629	115928887	2211	80029											
DBX1	120237	broad.mit.edu	37	chr11	20178608	20178608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtctttcaggcccagcttgGccgccagcttcttgcggtcg	4	11	12	14	3	3	0	1	0	2	0	4	0	3	0	3	3	3	2	3	3	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:20178608G>A	ENST00000524983.2	-	3	935	c.647C>T	c.(646-648)gCc>gTc	p.A216V	DBX1_ENST00000227256.3_Missense_Mutation_p.A216V			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	216					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GCCCAGCTTGGCCGCCAGCTT	0.642													7	67					0	0	0	0	A	20178608	G	A	20178608	3	1	408	1	0	0	0	0	1	0	0	0	4292	1203	42	4	509	4	DBX1	11	20178608	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1100979	20178608	114827908	2212	80030											
DBX1	120237	broad.mit.edu	37	chr11	20181531	20181531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccgaggagaggatggCgttcactccaaacttcagaa	11	6	13	11	2	2	2	2	0	0	2	3	5	3	3	3	4	1	1	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:20181531C>T	ENST00000524983.2	-	1	628	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	DBX1_ENST00000227256.3_Missense_Mutation_p.A114T			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	114					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAGAGGATGGCGTTCACTCCA	0.647													12	25					0	0	0	0	T	20181531	C	T	20181531	3	4	408	1	0	0	0	0	1	0	0	0	4292	768	27	1	824	1	DBX1	11	20181531	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2923	20181531	114824985	2213	80031											
ANO5	203859	broad.mit.edu	37	chr11	22283690	22283690	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagaaattcctcgaacatAccaggagtatgagagcagtc	16	7	9	9	1	0	2	0	1	0	2	3	5	1	3	2	1	4	2	2	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:22283690A>G	ENST00000324559.8	+	16	1963	c.1646A>G	c.(1645-1647)tAc>tGc	p.Y549C	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	549						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCGAACATACCAGGAGTAT	0.348													4	81					0	0	0	0	G	22283690	A	G	22283690	3	3	408	1	0	0	0	0	1	0	0	0	699	391	14	5	1708	5	ANO5	11	22283690	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2102159	22283690	112722826	2214	80032											
SLC17A6	57084	broad.mit.edu	37	chr11	22396403	22396403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagcagattctttcaactAcgacagtgagaaagatcatg	15	9	9	8	1	3	3	2	1	1	3	3	5	3	3	0	0	3	2	0	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:22396403A>G	ENST00000263160.3	+	9	1581	c.1144A>G	c.(1144-1146)Acg>Gcg	p.T382A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCTTTCAACTACGACAGTGAG	0.373													47	143					0	0	0	0	G	22396403	A	G	22396403	3	3	408	1	0	0	0	0	1	0	0	0	14509	391	14	5	1178	5	SLC17A6	11	22396403	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	112713	22396403	112610113	2215	80033											
LUZP2	338645	broad.mit.edu	37	chr11	25004699	25004699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaagcaatgaaagagActgtgcagctctgcttgaca	15	8	11	7	0	1	5	0	3	1	2	1	6	1	5	0	0	4	4	0	0	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:25004699A>G	ENST00000533227.1	+	9	654	c.367A>G	c.(367-369)Act>Gct	p.T123A	LUZP2_ENST00000336930.6_Missense_Mutation_p.T209A	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	209						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AATGAAAGAGACTGTGCAGCT	0.418													29	98					0	0	0	0	G	25004699	A	G	25004699	3	3	408	1	0	0	0	0	1	0	0	0	9151	275	10	5	659	5	LUZP2	11	25004699	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2608296	25004699	110001817	2216	80034											
KIF18A	81930	broad.mit.edu	37	chr11	28104410	28104410	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtaatgtttacctttcgaTttctttttcctgagggtttg	6	21	8	6	1	1	1	0	1	1	0	3	2	2	1	2	1	1	3	2	1	2	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:28104410T>C	ENST00000263181.6	-	9	1545	c.1255A>G	c.(1255-1257)Atc>Gtc	p.I419V		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	419					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TACCTTTCGATTTCTTTTTCC	0.249													11	29					0	0	0	0	C	28104410	T	C	28104410	3	2	408	1	0	0	0	0	1	0	0	0	8331	1493	52	5	1477	5	KIF18A	11	28104410	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3099711	28104410	106902106	2217	80035											
CAPRIN1	4076	broad.mit.edu	37	chr11	34074146	34074146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagcagattctcggggTgatcgacaagaaacttcgga	13	8	12	8	3	1	4	0	2	1	2	4	6	1	5	0	3	2	1	0	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:34074146T>C	ENST00000341394.4	+	2	368	c.179T>C	c.(178-180)gTg>gCg	p.V60A	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V60A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V60A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V60A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	60					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ATTCTCGGGGTGATCGACAAG	0.701													9	19					0	0	0	0	C	34074146	T	C	34074146	3	2	408	1	0	0	0	0	1	0	0	0	2660	1696	59	5	181	5	CAPRIN1	11	34074146	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5969736	34074146	100932370	2218	80036											
FJX1	24147	broad.mit.edu	37	chr11	35640687	35640687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcagctccaaccgacTggcccgttttgccgacggca	6	6	13	16	6	0	0	0	0	0	0	1	2	1	0	4	3	3	4	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:35640687T>C	ENST00000317811.4	+	1	953	c.503T>C	c.(502-504)cTg>cCg	p.L168P		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	168						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TCCAACCGACTGGCCCGTTTT	0.726													7	16					0	0	0	0	C	35640687	T	C	35640687	3	2	408	1	0	0	0	0	1	0	0	0	5946	1580	55	5	505	5	FJX1	11	35640687	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1566541	35640687	99365829	2219	80037											
LDLRAD3	143458	broad.mit.edu	37	chr11	36103271	36103271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatccattgcatcattggtCgcttccggtgcaatgggttt	6	14	11	10	2	1	0	1	0	0	0	4	0	3	0	2	3	2	5	2	3	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36103271C>T	ENST00000315571.5	+	3	283	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R39C|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R39C	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	88	LDL-receptor class A 2.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CATCATTGGTCGCTTCCGGTG	0.517													37	94					0	0	0	0	T	36103271	C	T	36103271	3	4	408	1	0	0	0	0	1	0	0	0	8760	884	31	1	272	1	LDLRAD3	11	36103271	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	462584	36103271	98903245	2220	80038											
TRAF6	7189	broad.mit.edu	37	chr11	36520057	36520057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacctcaagatgtctcagttCcatcttgtgcaaacaacctt	11	13	5	12	0	3	1	2	0	2	1	5	1	4	1	3	0	4	2	3	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36520057C>T	ENST00000526995.1	-	3	676	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	TRAF6_ENST00000348124.5_Missense_Mutation_p.E144K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	144	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|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 osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TGTCTCAGTTCCATCTTGTGC	0.373													22	66					0	0	0	0	T	36520057	C	T	36520057	3	4	408	1	0	0	0	0	1	0	0	0	16540	864	30	2	1158	2	TRAF6	11	36520057	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	416786	36520057	98486459	2221	80039											
RAG1	5896	broad.mit.edu	37	chr11	36594923	36594923	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaattcagcacccacatatTaaattttcagaatggaaatt	17	12	5	7	0	2	1	2	0	0	1	2	3	2	2	1	1	1	1	1	1	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36594923T>G	ENST00000299440.5	+	2	181	c.69T>G	c.(67-69)atT>atG	p.I23M		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	23	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACCCACATATTAAATTTTCAG	0.448									Familial Hemophagocytic Lymphohistiocytosis				4	106					0	0	0	0	G	36594923	T	G	36594923	3	3	408	1	0	0	0	0	1	0	0	0	13085	1742	61	5	71	5	RAG1	11	36594923	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	74866	36594923	98411593	2222	80040											
RAG1	5896	broad.mit.edu	37	chr11	36597387	36597387	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctccggaagaagatgAacctcaaaccaatcatgagg	16	6	9	10	1	3	4	2	2	1	2	4	5	3	5	3	2	3	1	3	2	5	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36597387A>T	ENST00000299440.5	+	2	2645	c.2533A>T	c.(2533-2535)Aac>Tac	p.N845Y		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	845					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAAGAAGATGAACCTCAAACC	0.473									Familial Hemophagocytic Lymphohistiocytosis				17	59					0	0	0	0	T	36597387	A	T	36597387	3	4	408	1	0	0	0	0	1	0	0	0	13085	246	9	5	2535	5	RAG1	11	36597387	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2464	36597387	98409129	2223	80041											
RAG1	5896	broad.mit.edu	37	chr11	36597916	36597916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggtttaccatgaaccCtcaggcaagcttaggggacc	9	9	11	12	0	2	1	1	1	1	0	2	2	2	2	3	4	3	3	3	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36597916C>A	ENST00000299440.5	+	2	3174	c.3062C>A	c.(3061-3063)cCt>cAt	p.P1021H		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	1021					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACCATGAACCCTCAGGCAAGC	0.428									Familial Hemophagocytic Lymphohistiocytosis				4	94					0.150653	0.150988	1	0	A	36597916	C	A	36597916	3	1	408	1	0	0	0	0	1	0	0	0	13085	681	24	4	3064	4	RAG1	11	36597916	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	529	36597916	98408600	2224	80042											
API5	8539	broad.mit.edu	37	chr11	43364020	43364020	+	Frame_Shift_Del	DEL	G	G	-																															aagtagaggtggccgaggttGgggcacacgaggaaatcgta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:43364020delG	ENST00000455725.2	+	15	1747	c.1502delG	c.(1501-1503)tgfs	p.W501fs	API5_ENST00000531273.1_Frame_Shift_Del_p.W512fs|API5_ENST00000378852.3_3'UTR|API5_ENST00000420461.2_3'UTR|API5_ENST00000534695.1_Intron|RP11-484D2.2_ENST00000526220.1_RNA			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	0					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GGCCGAGGTTGGGGCACACGA	0.463													22	98	---	---	---	---					-	43364020	G	-	43364020	7	5	408	1	0	1	0	1	0	0	0	0	774	1357	47	0	1589	0	API5	11	43364020	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	6766104	43364020	91642496	2225	80043											
ACCS	84680	broad.mit.edu	37	chr11	44089200	44089200	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcacccttcctcaaaaggActtcagggctcccaccacct	9	9	6	17	0	3	0	3	0	0	0	5	1	5	1	5	2	0	2	5	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:44089200A>T	ENST00000263776.8	+	2	457	c.23A>T	c.(22-24)gAc>gTc	p.D8V	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.D8V	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	8							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CCTCAAAAGGACTTCAGGGCT	0.537													24	90					0	0	0	0	T	44089200	A	T	44089200	3	4	408	1	0	0	0	0	1	0	0	0	133	275	10	5	25	5	ACCS	11	44089200	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	725180	44089200	90917316	2226	80044											
EXT2	2132	broad.mit.edu	37	chr11	44129281	44129281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgtgtgcgtcggtcaagTataatatccggggtcctgcc	7	13	12	9	3	1	0	1	0	0	0	4	0	3	0	3	3	2	1	3	3	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:44129281T>C	ENST00000395673.3	+	2	174	c.118T>C	c.(118-120)Tat>Cat	p.Y40H	EXT2_ENST00000343631.3_Missense_Mutation_p.Y7H|EXT2_ENST00000358681.4_Missense_Mutation_p.Y7H|EXT2_ENST00000533608.1_Missense_Mutation_p.Y7H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	7					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTCGGTCAAGTATAATATCCG	0.483			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				18	69					0	0	0	0	C	44129281	T	C	44129281	3	2	408	1	0	0	0	0	1	0	0	0	5362	1638	57	5	124	5	EXT2	11	44129281	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	40081	44129281	90877235	2227	80045											
ALX4	60529	broad.mit.edu	37	chr11	44296905	44296905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcactgacctgcacgCgggcctcagtgaggtctgtc	5	8	13	15	2	3	2	2	2	1	0	4	2	3	2	3	3	1	1	3	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:44296905C>T	ENST00000329255.3	-	2	873	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	257			R -> T (in dbSNP:rs3824915).		hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GACCTGCACGCGGGCCTCAGT	0.622													24	71					0	0	0	0	T	44296905	C	T	44296905	3	4	408	1	0	0	0	0	1	0	0	0	558	768	27	1	477	1	ALX4	11	44296905	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	167624	44296905	90709611	2228	80046											
CREB3L1	90993	broad.mit.edu	37	chr11	46332639	46332639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatggcagtgacagcgacGgctcccagagtccccgctct	7	6	12	16	3	1	2	0	1	1	1	3	3	3	2	4	2	1	3	4	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:46332639G>A	ENST00000529193.1	+	5	1103	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	CREB3L1_ENST00000288400.3_Missense_Mutation_p.G218S			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	218					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGACAGCGACGGCTCCCAGAG	0.672			T	FUS	myxofibrosarcoma								37	74					0	0	0	0	A	46332639	G	A	46332639	3	1	408	1	0	0	0	0	1	0	0	0	3886	1116	39	1	670	1	CREB3L1	11	46332639	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2035734	46332639	88673877	2229	80047											
CHRM4	1132	broad.mit.edu	37	chr11	46407278	46407278	+	Frame_Shift_Del	DEL	G	G	-																															gtggcggtggcagcgctggcGggggggcctcctccagcttg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:46407278delG	ENST00000433765.2	-	1	829	c.830delC	c.(829-831)cgfs	p.P278fs		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	278					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CAGCGCTGGCGGGGGGGCCTC	0.672													11	31	---	---	---	---					-	46407278	G	-	46407278	7	5	408	1	0	1	0	1	0	0	0	0	3408	1116	39	0	613	0	CHRM4	11	46407278	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	74639	46407278	88599238	2230	80048											
ARHGAP1	392	broad.mit.edu	37	chr11	46700995	46700995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggacctgcagtgtcgctgGcaccctctggctttcatcaa	7	10	11	13	1	3	0	2	0	1	0	4	2	3	1	2	3	1	4	2	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:46700995G>A	ENST00000311956.4	-	12	1148	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	351	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AGTGTCGCTGGCACCCTCTGG	0.597													23	65					0	0	0	0	A	46700995	G	A	46700995	3	1	408	1	0	0	0	0	1	0	0	0	863	1203	42	4	276	4	ARHGAP1	11	46700995	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	293717	46700995	88305521	2231	80049											
CKAP5	9793	broad.mit.edu	37	chr11	46837797	46837797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggccactatgatcttgggaTtcttattgtccaagcctttc	8	15	8	10	0	2	1	0	1	2	0	4	2	3	2	3	2	1	0	3	2	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:46837797T>C	ENST00000529230.1	-	4	456	c.410A>G	c.(409-411)aAt>aGt	p.N137S	CKAP5_ENST00000312055.5_Missense_Mutation_p.N137S|CKAP5_ENST00000354558.3_Missense_Mutation_p.N137S|CKAP5_ENST00000415402.1_Missense_Mutation_p.N137S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	137					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GATCTTGGGATTCTTATTGTC	0.428													9	157					0	0	0	0	C	46837797	T	C	46837797	3	2	408	1	0	0	0	0	1	0	0	0	3475	1493	52	5	5852	5	CKAP5	11	46837797	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	136802	46837797	88168719	2232	80050											
PACSIN3	29763	broad.mit.edu	37	chr11	47201009	47201009	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgtaaggtgagcagcatAtccttgaagaaaagaagccg	14	8	13	6	1	0	4	0	2	0	2	1	4	1	4	2	2	3	3	2	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47201009A>G	ENST00000539589.1	-	7	1074	c.732T>C	c.(730-732)gaT>gaC	p.D244D	PACSIN3_ENST00000298838.6_Silent_p.D244D	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	244					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TGAGCAGCATATCCTTGAAGA	0.567											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	50					0	0	0	0	G	47201009	A	G	47201009	2	3	408	1	0	0	0	0	0	0	0	1	11447	446	16	5		5	PACSIN3	11	47201009	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	363212	47201009	87805507	2233	80051											
MYBPC3	4607	broad.mit.edu	37	chr11	47356682	47356682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcactcggaaaagcagcCgggcccccgtgggcaggtcc	7	3	14	17	4	0	0	0	0	0	0	2	1	1	1	5	4	2	3	5	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47356682C>T	ENST00000399249.2	-	26	2870	c.2816G>A	c.(2815-2817)cGg>cAg	p.R939Q	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R938Q|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R939Q			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	938	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAAAGCAGCCGGGCCCCCGT	0.672													14	44					0	0	0	0	T	47356682	C	T	47356682	3	4	408	1	0	0	0	0	1	0	0	0	10083	652	23	1	1040	1	MYBPC3	11	47356682	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	155673	47356682	87649834	2234	80052											
KBTBD4	55709	broad.mit.edu	37	chr11	47595031	47595031	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttgcagtgtcttgccAcccagtgaatatatggcatc	9	13	9	10	0	2	1	0	1	2	0	3	1	2	1	2	1	2	3	2	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47595031A>G	ENST00000533290.1	-	3	1797	c.1083T>C	c.(1081-1083)ggT>ggC	p.G361G	KBTBD4_ENST00000430070.2_Silent_p.G352G|KBTBD4_ENST00000526005.1_Silent_p.G336G|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Silent_p.G336G			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	336										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GTGTCTTGCCACCCAGTGAAT	0.542													19	56					0	0	0	0	G	47595031	A	G	47595031	2	3	408	1	0	0	0	0	0	0	0	1	8048	146	6	5		5	KBTBD4	11	47595031	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	238349	47595031	87411485	2235	80053											
NDUFS3	4722	broad.mit.edu	37	chr11	47603695	47603695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggatccgtgtgaagacctAcacagatgagctgacgccca	12	6	11	12	3	0	5	0	3	0	2	1	6	1	6	3	1	2	1	3	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47603695A>G	ENST00000263774.4	+	5	519	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	146					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GTGAAGACCTACACAGATGAG	0.532													55	138					0	0	0	0	G	47603695	A	G	47603695	3	3	408	1	0	0	0	0	1	0	0	0	10363	391	14	5	455	5	NDUFS3	11	47603695	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	8664	47603695	87402821	2236	80054											
C1QTNF4	114900	broad.mit.edu	37	chr11	47612220	47612220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacaccttgtcgaaggtcAccgccatctccgacgtgccc	7	8	9	17	5	2	0	1	0	1	0	4	2	2	0	5	1	2	1	5	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47612220A>G	ENST00000302514.3	-	2	659	c.143T>C	c.(142-144)gTg>gCg	p.V48A		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	48	C1q 1.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GTCGAAGGTCACCGCCATCTC	0.697													8	24					0	0	0	0	G	47612220	A	G	47612220	3	3	408	1	0	0	0	0	1	0	0	0	1984	159	6	5	850	5	C1QTNF4	11	47612220	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	8525	47612220	87394296	2237	80055											
AGBL2	79841	broad.mit.edu	37	chr11	47684631	47684631	+	Frame_Shift_Del	DEL	G	G	-																															ggtggccattgatgggtccaGgggggtgtctttgtctcttc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47684631delG	ENST00000525123.1	-	18	2767	c.2482delC	c.(2482-2484)tgfs	p.L828fs	AGBL2_ENST00000357610.3_Frame_Shift_Del_p.L830fs|AGBL2_ENST00000298861.4_Frame_Shift_Del_p.L828fs	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	828					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GATGGGTCCAGGGGGGTGTCT	0.358													48	165	---	---	---	---					-	47684631	G	-	47684631	7	5	408	1	0	1	0	1	0	0	0	0	376	991	35	0	234	0	AGBL2	11	47684631	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	72411	47684631	87321885	2238	80056											
AGBL2	79841	broad.mit.edu	37	chr11	47732033	47732033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttccgaacatgctgatgcGtagcagagtttggtaaactg	10	12	11	8	2	1	2	0	1	1	1	2	3	2	2	1	1	5	5	1	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47732033G>A	ENST00000525123.1	-	4	413	c.128C>T	c.(127-129)aCg>aTg	p.T43M	AGBL2_ENST00000298861.4_Missense_Mutation_p.T43M|AGBL2_ENST00000357610.3_Missense_Mutation_p.T43M|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.T43M	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	43					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATGCTGATGCGTAGCAGAGTT	0.433													25	80					0	0	0	0	A	47732033	G	A	47732033	3	1	408	1	0	0	0	0	1	0	0	0	376	1145	40	1	2644	1	AGBL2	11	47732033	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	47402	47732033	87274483	2239	80057											
NUP160	23279	broad.mit.edu	37	chr11	47861552	47861552	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaactgatagttgcaaggAtctgtgaaatcaacttttcc	13	14	7	7	0	2	2	1	2	1	0	3	3	3	3	1	1	3	2	1	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47861552A>T	ENST00000378460.2	-	4	637	c.591T>A	c.(589-591)gaT>gaA	p.D197E	NUP160_ENST00000528071.1_Missense_Mutation_p.D83E|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.D83E|NUP160_ENST00000532747.1_Intron	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	197					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGTTGCAAGGATCTGTGAAAT	0.418													12	107					0	0	0	0	T	47861552	A	T	47861552	3	4	408	1	0	0	0	0	1	0	0	0	10828	330	12	5	3851	5	NUP160	11	47861552	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	129519	47861552	87144964	2240	80058											
OR4X1	390113	broad.mit.edu	37	chr11	48286062	48286062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgatggcttcctaccTgatcatcctgcacttcctga	6	13	8	14	1	1	3	1	3	0	0	4	3	4	3	4	1	3	3	4	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:48286062T>C	ENST00000320048.1	+	1	650	c.650T>C	c.(649-651)cTg>cCg	p.L217P		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCTTCCTACCTGATCATCCTG	0.542													4	84					0	0	0	0	C	48286062	T	C	48286062	3	2	408	1	0	0	0	0	1	0	0	0	11155	1580	55	5	652	5	OR4X1	11	48286062	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	424510	48286062	86720454	2241	80059											
OR4X1	390113	broad.mit.edu	37	chr11	48286262	48286262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctctcttaaaccctgtgAtttactccttcaggaatgct	9	14	5	13	0	2	1	1	1	1	0	4	2	3	2	3	1	3	1	3	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:48286262A>G	ENST00000320048.1	+	1	850	c.850A>G	c.(850-852)Att>Gtt	p.I284V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAACCCTGTGATTTACTCCTT	0.408													25	64					0	0	0	0	G	48286262	A	G	48286262	3	3	408	1	0	0	0	0	1	0	0	0	11155	333	12	5	852	5	OR4X1	11	48286262	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	200	48286262	86720254	2242	80060											
FOLH1	2346	broad.mit.edu	37	chr11	49207285	49207285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttaggatatttccacgCtggacaccacctccaggaag	12	9	9	11	1	0	1	0	0	0	1	2	4	2	4	4	3	0	1	4	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:49207285C>A	ENST00000340334.7	-	7	1085	c.717G>T	c.(715-717)caG>caT	p.Q239H	FOLH1_ENST00000356696.3_Missense_Mutation_p.Q254H|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000256999.2_Missense_Mutation_p.Q254H|FOLH1_ENST00000533034.1_Missense_Mutation_p.Q239H	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	254					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TATTTCCACGCTGGACACCAC	0.483													16	59					4.96729e-08	5.11586e-08	1	0	A	49207285	C	A	49207285	3	1	408	1	0	0	0	0	1	0	0	0	6024	796	28	4	1546	4	FOLH1	11	49207285	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	921023	49207285	85799231	2243	80061											
OR4A16	81327	broad.mit.edu	37	chr11	55111035	55111035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgatggcctatgatcGctatgtggctatctctaagc	7	13	13	8	1	1	2	0	2	1	0	3	2	1	2	1	4	1	2	1	4	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55111035G>A	ENST00000314721.2	+	1	409	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GCCTATGATCGCTATGTGGCT	0.468													48	174					0	0	0	0	A	55111035	G	A	55111035	3	1	408	1	0	0	0	0	1	0	0	0	11112	1087	38	1	361	1	OR4A16	11	55111035	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5903750	55111035	79895481	2244	80062											
OR4C16	219428	broad.mit.edu	37	chr11	55339883	55339883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacaactatctccttcagcGagtgcatgatccaagtcttt	11	12	7	11	1	3	2	1	1	2	1	5	3	4	2	2	0	3	1	2	0	3	3	rs150706012	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55339883G>A	ENST00000314634.3	+	1	280	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E94K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCCTTCAGCGAGTGCATGAT	0.458													48	209					0	0	0	0	A	55339883	G	A	55339883	3	1	408	1	0	0	0	0	1	0	0	0	11120	1059	37	1	282	1	OR4C16	11	55339883	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	228848	55339883	79666633	2245	80063											
OR5D13	390142	broad.mit.edu	37	chr11	55541197	55541197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggaatacagaaccatctCtttctctggttgcatcatgc	9	14	8	10	0	3	1	1	0	2	1	5	2	3	2	1	2	4	2	1	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55541197C>G	ENST00000361760.1	+	1	284	c.284C>G	c.(283-285)tCt>tGt	p.S95C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGAACCATCTCTTTCTCTGGT	0.403													54	145					0	0	0	0	G	55541197	C	G	55541197	3	3	408	1	0	0	0	0	1	0	0	0	11225	913	32	2	286	2	OR5D13	11	55541197	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	201314	55541197	79465319	2246	80064											
OR5D13	390142	broad.mit.edu	37	chr11	55541364	55541364	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttctggtggctgggtccTatacatgggggatagtgtgc	5	13	15	8	0	2	0	0	0	2	0	3	1	3	1	1	5	2	1	1	5	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55541364T>C	ENST00000361760.1	+	1	451	c.451T>C	c.(451-453)Tat>Cat	p.Y151H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GGCTGGGTCCTATACATGGGG	0.423													63	163					0	0	0	0	C	55541364	T	C	55541364	3	2	408	1	0	0	0	0	1	0	0	0	11225	1522	53	5	453	5	OR5D13	11	55541364	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	167	55541364	79465152	2247	80065											
OR5D16	390144	broad.mit.edu	37	chr11	55606662	55606662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagaaactctgtgccatGctggtggttgtattgtatgc	7	14	11	9	0	1	1	0	0	1	1	2	1	2	1	2	2	4	4	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55606662G>C	ENST00000378396.1	+	1	435	c.435G>C	c.(433-435)atG>atC	p.M145I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTGTGCCATGCTGGTGGTTG	0.448													31	76					0	0	0	0	C	55606662	G	C	55606662	3	2	408	1	0	0	0	0	1	0	0	0	11227	1319	46	4	437	4	OR5D16	11	55606662	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	65298	55606662	79399854	2248	80066											
OR5T2	219464	broad.mit.edu	37	chr11	55999741	55999741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactatcatgtcatggtcCgaagcatagctggaacttgg	11	10	11	9	1	2	0	2	0	0	0	3	3	3	1	1	3	3	2	1	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55999741C>T	ENST00000313264.4	-	1	996	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S307S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408													6	191					0	0	0	0	T	55999741	C	T	55999741	2	4	408	1	0	0	0	0	0	0	0	1	11253	639	23	1		1	OR5T2	11	55999741	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	393079	55999741	79006775	2249	80067											
OR5M9	390162	broad.mit.edu	37	chr11	56230001	56230001	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgcttcttttacatcctTatttctcagactgtagatca	9	17	5	10	0	3	2	2	0	2	2	5	3	4	2	1	0	2	2	1	0	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:56230001T>A	ENST00000279791.1	-	1	876	c.877A>T	c.(877-879)Aag>Tag	p.K293*		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTACATCCTTATTTCTCAGA	0.413													6	88					0	0	0	0	A	56230001	T	A	56230001	4	1	408	1	0	0	0	0	0	1	0	0	11248	1763	61	5	57	5	OR5M9	11	56230001	Nonsense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	230260	56230001	78776515	2250	80068											
OR5M8	219484	broad.mit.edu	37	chr11	56258765	56258765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatggccagaaacagcgTgaagaggagaatttgtaatt	16	9	12	4	1	0	4	0	1	0	3	0	5	0	4	1	2	2	2	1	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:56258765T>C	ENST00000327216.2	-	1	106	c.82A>G	c.(82-84)Acg>Gcg	p.T28A		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGAAACAGCGTGAAGAGGAGA	0.502													56	134					0	0	0	0	C	56258765	T	C	56258765	3	2	408	1	0	0	0	0	1	0	0	0	11247	1696	59	5	857	5	OR5M8	11	56258765	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	28764	56258765	78747751	2251	80069											
OR5AP2	338675	broad.mit.edu	37	chr11	56409225	56409225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgaaggcatcttcaagaCggcaatgaagatacacaggt	16	7	10	8	2	2	3	1	1	1	2	2	4	2	3	0	3	2	2	0	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:56409225C>T	ENST00000544374.1	-	1	722	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	OR5AP2_ENST00000302981.1_Missense_Mutation_p.V231I			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ATCTTCAAGACGGCAATGAAG	0.443													45	143					0	0	0	0	T	56409225	C	T	56409225	3	4	408	1	0	0	0	0	1	0	0	0	11215	536	19	1	263	1	OR5AP2	11	56409225	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	150460	56409225	78597291	2252	80070											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076249	57076249	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctcaggcccagattgttAccccagtccatctggcccac	7	9	7	18	0	2	1	1	0	1	1	4	1	4	1	6	2	1	1	6	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57076249A>G	ENST00000532437.1	-	5	4247	c.3936T>C	c.(3934-3936)ggT>ggC	p.G1312G	TNKS1BP1_ENST00000358252.3_Silent_p.G1312G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1312	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAGATTGTTACCCCAGTCCA	0.607													25	317					0	0	0	0	G	57076249	A	G	57076249	2	3	408	1	0	0	0	0	0	0	0	1	16414	378	14	5		5	TNKS1BP1	11	57076249	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	667024	57076249	77930267	2253	80071											
SLC43A1	8501	broad.mit.edu	37	chr11	57256751	57256751	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagttgttgatgagacaGgtgatgccaaaacccacaag	14	9	11	7	0	0	3	0	3	0	1	0	4	0	3	2	1	2	3	2	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57256751G>T	ENST00000278426.3	-	12	1663	c.1308C>A	c.(1306-1308)acC>acA	p.T436T	SLC43A1_ENST00000528450.1_Silent_p.T436T	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	436					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGATGAGACAGGTGATGCCAA	0.552													36	84					4.62619e-21	4.88158e-21	1	0	T	57256751	G	T	57256751	2	4	408	1	0	0	0	0	0	0	0	1	14720	987	35	4		4	SLC43A1	11	57256751	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	180502	57256751	77749765	2254	80072											
SMTNL1	219537	broad.mit.edu	37	chr11	57310215	57310215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcccctgcagaggagAccaaaggcacagctggaaag	13	3	15	10	0	0	2	0	0	0	2	0	5	0	4	3	4	3	3	3	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57310215A>G	ENST00000457912.1	+	2	154	c.154A>G	c.(154-156)Acc>Gcc	p.T52A	SMTNL1_ENST00000399154.2_Missense_Mutation_p.T34A|SMTNL1_ENST00000527972.1_Missense_Mutation_p.T34A			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	34										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGCAGAGGAGACCAAAGGCAC	0.597													13	28					0	0	0	0	G	57310215	A	G	57310215	3	3	408	1	0	0	0	0	1	0	0	0	14903	275	10	5	160	5	SMTNL1	11	57310215	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	53464	57310215	77696301	2255	80073											
ZDHHC5	25921	broad.mit.edu	37	chr11	57464277	57464277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccccgacacctaccatgTacaagtatcggccgggttac	9	7	9	16	3	0	0	0	0	0	0	1	1	0	0	6	2	3	3	6	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57464277T>C	ENST00000287169.3	+	10	2416	c.1054T>C	c.(1054-1056)Tac>Cac	p.Y352H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.Y299H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	352						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						ACCTACCATGTACAAGTATCG	0.502													13	75					0	0	0	0	C	57464277	T	C	57464277	3	2	408	1	0	0	0	0	1	0	0	0	17713	1638	57	5	1088	5	ZDHHC5	11	57464277	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	154062	57464277	77542239	2256	80074											
CTNND1	1500	broad.mit.edu	37	chr11	57575889	57575889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatacatccgctctgctctgCgtcaagagaaggctctttct	8	12	9	12	2	5	1	1	0	4	1	6	3	6	1	1	1	3	3	1	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57575889C>T	ENST00000524630.1	+	13	2614	c.2101C>T	c.(2101-2103)Cgt>Tgt	p.R701C	CTNND1_ENST00000415361.2_Missense_Mutation_p.R606C|CTNND1_ENST00000526938.1_Missense_Mutation_p.R707C|CTNND1_ENST00000530748.1_Missense_Mutation_p.R653C|CTNND1_ENST00000426142.2_Missense_Mutation_p.R600C|CTNND1_ENST00000532787.1_Missense_Mutation_p.R600C|CTNND1_ENST00000428599.2_Missense_Mutation_p.R701C|CTNND1_ENST00000529986.1_Missense_Mutation_p.R600C|CTNND1_ENST00000399039.4_Missense_Mutation_p.R707C|CTNND1_ENST00000526357.1_Missense_Mutation_p.R647C|CTNND1_ENST00000530094.1_Missense_Mutation_p.R600C|CTNND1_ENST00000529919.1_Missense_Mutation_p.R707C|CTNND1_ENST00000361391.6_Missense_Mutation_p.R701C|CTNND1_ENST00000399050.4_Missense_Mutation_p.R707C|CTNND1_ENST00000532245.1_Missense_Mutation_p.R600C|CTNND1_ENST00000525902.1_Missense_Mutation_p.R384C|CTNND1_ENST00000527467.1_Missense_Mutation_p.R384C|CTNND1_ENST00000534579.1_Missense_Mutation_p.R647C|CTNND1_ENST00000360682.6_Missense_Mutation_p.R707C|CTNND1_ENST00000531014.1_Missense_Mutation_p.R378C|CTNND1_ENST00000533667.1_Missense_Mutation_p.R378C|CTNND1_ENST00000526772.1_Missense_Mutation_p.R378C|CTNND1_ENST00000528232.1_Missense_Mutation_p.R606C|CTNND1_ENST00000528621.1_Missense_Mutation_p.R647C|CTNND1_ENST00000532463.1_Missense_Mutation_p.R600C|CTNND1_ENST00000358694.6_Missense_Mutation_p.R701C|CTNND1_ENST00000529526.1_Missense_Mutation_p.R647C|CTNND1_ENST00000361332.4_Missense_Mutation_p.R701C|CTNND1_ENST00000361796.4_Missense_Mutation_p.R701C|CTNND1_ENST00000532649.1_Missense_Mutation_p.R647C|CTNND1_ENST00000529873.1_Missense_Mutation_p.R647C|CTNND1_ENST00000532844.1_Missense_Mutation_p.R653C			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	707					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTCTGCTCTGCGTCAAGAGAA	0.458													5	150					0	0	0	0	T	57575889	C	T	57575889	3	4	408	1	0	0	0	0	1	0	0	0	4051	768	27	1	2165	1	CTNND1	11	57575889	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	111612	57575889	77430627	2257	80075											
OR9I1	219954	broad.mit.edu	37	chr11	57886446	57886446	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggtgcaagtggtacgcagGatggctcctgacaccccaca	11	6	12	12	1	0	1	0	1	0	0	1	2	1	2	3	4	2	4	3	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57886446G>T	ENST00000302610.1	-	1	470	c.471C>A	c.(469-471)atC>atA	p.I157I	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGGTACGCAGGATGGCTCCTG	0.552													7	73					0.000157383	0.00015972	1	0	T	57886446	G	T	57886446	2	4	408	1	0	0	0	0	0	0	0	1	11324	1164	41	2		2	OR9I1	11	57886446	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	310557	57886446	77120070	2258	80076											
OR5B12	390191	broad.mit.edu	37	chr11	58206860	58206860	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttaggtcgtaagtacatAaagattcctgtcccataaaa	15	11	8	7	1	0	1	0	0	0	1	3	2	2	1	2	1	1	3	2	1	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:58206860A>G	ENST00000302572.2	-	1	786	c.765T>C	c.(763-765)ttT>ttC	p.F255F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAAGTACATAAAGATTCCTG	0.458													28	67					0	0	0	0	G	58206860	A	G	58206860	2	3	408	1	0	0	0	0	0	0	0	1	11219	359	13	5		5	OR5B12	11	58206860	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	320414	58206860	76799656	2259	80077											
ZFP91	80829	broad.mit.edu	37	chr11	58384240	58384240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggccttcaagagttcccAcaatctggcagtgcaccgga	9	8	11	13	2	2	1	1	0	1	1	4	2	3	2	3	3	1	3	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:58384240A>G	ENST00000316059.6	+	10	1325	c.1154A>G	c.(1153-1155)cAc>cGc	p.H385R	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.H385R	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	385					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGAGTTCCCACAATCTGGCA	0.413													15	69					0	0	0	0	G	58384240	A	G	58384240	3	3	408	1	0	0	0	0	1	0	0	0	17750	159	6	5	1192	5	ZFP91	11	58384240	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	177380	58384240	76622276	2260	80078											
DTX4	23220	broad.mit.edu	37	chr11	58949498	58949498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctaccccatggtcacaggGaccttgcctaaggctcagtc	9	9	9	14	0	3	0	2	0	1	0	4	1	3	1	4	3	2	1	4	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:58949498G>A	ENST00000227451.3	+	2	602	c.498G>A	c.(496-498)ggG>ggA	p.G166G	DTX4_ENST00000532982.1_Silent_p.G60G	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	166					Notch signaling pathway	cytoplasm	zinc ion binding	p.G60G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TGGTCACAGGGACCTTGCCTA	0.637													23	79					0	0	0	0	A	58949498	G	A	58949498	2	1	408	1	0	0	0	0	0	0	0	1	4833	1161	41	2		2	DTX4	11	58949498	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	565258	58949498	76057018	2261	80079											
OR4D10	390197	broad.mit.edu	37	chr11	59245082	59245082	+	Frame_Shift_Del	DEL	T	T	-																															cgccttcacacgcccatgtaTtttttgctccataatttatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:59245082delT	ENST00000530162.1	+	1	237	c.180delT	c.(178-180)tafs	p.Y60fs		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCCATGTATTTTTTGCTCC	0.438													59	231	---	---	---	---					-	59245082	T	-	59245082	7	5	408	1	0	1	0	1	0	0	0	0	11125	1500	52	0	182	0	OR4D10	11	59245082	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	295584	59245082	75761434	2262	80080											
VWCE	220001	broad.mit.edu	37	chr11	61026740	61026740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgaatgccacatttcCgtgaggggagagcccctgct	7	11	12	11	1	0	3	0	2	0	1	1	4	1	3	4	2	4	2	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61026740C>T	ENST00000335613.5	-	20	2661	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	VWCE_ENST00000535710.1_Missense_Mutation_p.G224R	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	759						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCACATTTCCGTGAGGGGAG	0.582													22	61					0	0	0	0	T	61026740	C	T	61026740	3	4	408	1	0	0	0	0	1	0	0	0	17341	661	23	1	596	1	VWCE	11	61026740	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1781658	61026740	73979776	2263	80081											
CPSF7	79869	broad.mit.edu	37	chr11	61183875	61183875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaggacgattgaagtaggGcagcacactggggggcttat	11	7	17	6	1	0	1	0	1	0	0	0	4	0	3	0	6	1	4	0	6	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61183875G>A	ENST00000340437.4	-	6	876	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	CPSF7_ENST00000394888.4_Missense_Mutation_p.P223S|CPSF7_ENST00000439958.3_Missense_Mutation_p.P214S|CPSF7_ENST00000448745.1_Missense_Mutation_p.P214S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	223	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TTGAAGTAGGGCAGCACACTG	0.592													5	218					0	0	0	0	A	61183875	G	A	61183875	3	1	408	1	0	0	0	0	1	0	0	0	3860	1203	42	4	764	4	CPSF7	11	61183875	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	157135	61183875	73822641	2264	80082											
SDHAF2	54949	broad.mit.edu	37	chr11	61213520	61213520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgtgccccagatcttgagTacctctttgaaaagccacgt	9	11	9	12	2	2	3	0	2	2	1	2	3	2	3	4	0	4	1	4	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61213520T>C	ENST00000301761.2	+	4	552	c.478T>C	c.(478-480)Tac>Cac	p.Y160H	RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000543265.1_3'UTR|SDHAF2_ENST00000537782.1_3'UTR|SDHAF2_ENST00000542074.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.Y148H	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	160					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						AGATCTTGAGTACCTCTTTGA	0.488											OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	100					0	0	0	0	C	61213520	T	C	61213520	3	2	408	1	0	0	0	0	1	0	0	0	14051	1638	57	5	492	5	SDHAF2	11	61213520	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	29645	61213520	73792996	2265	80083											
DAGLA	747	broad.mit.edu	37	chr11	61502441	61502441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgagaacatgactgcGgtggacatcgtctatacctc	10	9	11	11	3	1	2	0	1	1	1	3	5	1	4	1	3	3	0	1	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61502441G>A	ENST00000257215.5	+	10	1211	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	365					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACATGACTGCGGTGGACATCG	0.637													93	355					0	0	0	0	A	61502441	G	A	61502441	2	1	408	1	0	0	0	0	0	0	0	1	4259	1103	39	1		1	DAGLA	11	61502441	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	288921	61502441	73504075	2266	80084											
DAGLA	747	broad.mit.edu	37	chr11	61502471	61502471	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatacctcctgccatgaTgcggtgaggccgggcagggc	6	8	15	12	2	1	2	0	2	1	0	2	2	2	2	4	4	3	1	4	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61502471T>C	ENST00000257215.5	+	10	1241	c.1125T>C	c.(1123-1125)gaT>gaC	p.D375D		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	375					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCTGCCATGATGCGGTGAGGC	0.622													32	343					0	0	0	0	C	61502471	T	C	61502471	2	2	408	1	0	0	0	0	0	0	0	1	4259	1461	51	5		5	DAGLA	11	61502471	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	30	61502471	73504045	2267	80085											
AHNAK	79026	broad.mit.edu	37	chr11	62290595	62290595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccattttgggcagagaaAcatccacatcgcccttgact	10	11	7	13	1	0	2	0	1	0	1	3	3	2	2	3	1	1	1	3	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62290595A>G	ENST00000378024.4	-	5	11568	c.11294T>C	c.(11293-11295)gTt>gCt	p.V3765A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3765					nervous system development	nucleus	protein binding			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)				GGGCAGAGAAACATCCACATC	0.468													8	281					0	0	0	0	G	62290595	A	G	62290595	3	3	408	1	0	0	0	0	1	0	0	0	414	43	2	5	6498	5	AHNAK	11	62290595	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	788124	62290595	72715921	2268	80086											
AHNAK	79026	broad.mit.edu	37	chr11	62291660	62291660	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaaactttgggagatgaaAtactcaggaaaggcatttta	16	11	10	4	0	1	3	1	1	0	2	1	5	1	4	0	3	2	1	0	3	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62291660A>G	ENST00000378024.4	-	5	10503	c.10229T>C	c.(10228-10230)aTt>aCt	p.I3410T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3410					nervous system development	nucleus	protein binding			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)				GGGAGATGAAATACTCAGGAA	0.393													35	68					0	0	0	0	G	62291660	A	G	62291660	3	3	408	1	0	0	0	0	1	0	0	0	414	101	4	5	7563	5	AHNAK	11	62291660	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1065	62291660	72714856	2269	80087											
MTA2	9219	broad.mit.edu	37	chr11	62362913	62362914	+	Frame_Shift_Del	DEL	GA	GA	-																															gttggcgctggttgtgtaagGagagagactttgagcttcag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62362913_62362914delGA	ENST00000278823.2	-	14	1694_1695	c.1305_1306delTC	c.(1303-1308)tcctfs	p.SP435fs	MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	435					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTT	0.505													37	108	---	---	---	---					-	62362914	GA	-	62362913	7	5	408	1	0	1	0	1	0	0	0	0	9979	1174	41	0	720	0	MTA2	11	62362913	Frame_Shift_Del	DEL	GA	TCGA-F7-A624-01A-22D-A30E-08	71253	62362913	72643603	2270	80088											
INTS5	80789	broad.mit.edu	37	chr11	62415151	62415151	+	Frame_Shift_Del	DEL	C	C	-																															ctctggactcaagatgggtgCcccccagcattccccacatt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62415151delC	ENST00000330574.2	-	2	2453	c.2401delG	c.(2401-2403)cafs	p.A801fs		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	801					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAGATGGGTGCCCCCCAGCAT	0.607													57	180	---	---	---	---					-	62415151	C	-	62415151	7	5	408	1	0	1	0	1	0	0	0	0	7834	739	26	0	662	0	INTS5	11	62415151	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	52238	62415151	72591365	2271	80089											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62490360	62490360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcagccttctttcattgGgagattctgggttacctggc	5	15	12	9	0	3	1	1	0	2	1	3	2	3	1	2	3	3	2	2	3	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62490360G>A	ENST00000301785.5	-	5	1099	c.907C>T	c.(907-909)Cca>Tca	p.P303S	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.P303S	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	303	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTTCATTGGGAGATTCTGG	0.428													15	41					0	0	0	0	A	62490360	G	A	62490360	3	1	408	1	0	0	0	0	1	0	0	0	7325	1232	43	4	1376	4	HNRNPUL2	11	62490360	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	75209	62490360	72516156	2272	80090											
SLC22A8	9376	broad.mit.edu	37	chr11	62782126	62782126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatggagtccttggtgctgTtgtagacccagccatccagg	8	10	12	11	0	0	1	0	0	0	1	2	2	2	2	4	3	2	3	4	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62782126T>C	ENST00000336232.2	-	2	440	c.305A>G	c.(304-306)aAc>aGc	p.N102S	SLC22A8_ENST00000545207.1_Missense_Mutation_p.N11S|SLC22A8_ENST00000430500.2_Missense_Mutation_p.N102S|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.N102S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	102					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CTTGGTGCTGTTGTAGACCCA	0.602													78	171					0	0	0	0	C	62782126	T	C	62782126	3	2	408	1	0	0	0	0	1	0	0	0	14548	1725	60	5	1363	5	SLC22A8	11	62782126	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	291766	62782126	72224390	2273	80091											
HRASLS5	117245	broad.mit.edu	37	chr11	63230986	63230986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatcaccttcaggcagttaTtggtttgggctttatgctat	7	17	9	8	0	3	0	3	0	0	0	3	0	3	0	1	3	1	5	1	3	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63230986T>C	ENST00000540857.1	-	6	931	c.799A>G	c.(799-801)Ata>Gta	p.I267V	HRASLS5_ENST00000539221.1_3'UTR|HRASLS5_ENST00000301790.4_Missense_Mutation_p.I277V	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	277										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGGCAGTTATTGGTTTGGGC	0.483													56	158					0	0	0	0	C	63230986	T	C	63230986	3	2	408	1	0	0	0	0	1	0	0	0	7401	1493	52	5	14	5	HRASLS5	11	63230986	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	448860	63230986	71775530	2274	80092											
HRASLS2	54979	broad.mit.edu	37	chr11	63326018	63326018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatctgtcatcgtgcttgTtattgaccctgtagttgtct	5	19	9	8	1	3	1	1	1	2	0	4	1	3	1	1	0	1	5	1	0	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63326018T>C	ENST00000255695.1	-	3	291	c.233A>G	c.(232-234)aAc>aGc	p.N78S		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	78					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATCGTGCTTGTTATTGACCCT	0.547													20	153					0	0	0	0	C	63326018	T	C	63326018	3	2	408	1	0	0	0	0	1	0	0	0	7400	1725	60	5	263	5	HRASLS2	11	63326018	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	95032	63326018	71680498	2275	80093											
RTN3	10313	broad.mit.edu	37	chr11	63487380	63487380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctggagtggccacagtgaAagtggttttacctgatgacc	9	12	12	8	0	1	3	0	3	1	0	1	4	1	4	3	3	1	1	3	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63487380A>G	ENST00000377819.5	+	3	1560	c.1406A>G	c.(1405-1407)aAa>aGa	p.K469R	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.K450R|RTN3_ENST00000540798.1_Missense_Mutation_p.K357R|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	469					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GCCACAGTGAAAGTGGTTTTA	0.468													5	132					0	0	0	0	G	63487380	A	G	63487380	3	3	408	1	0	0	0	0	1	0	0	0	13812	14	1	5	1416	5	RTN3	11	63487380	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	161362	63487380	71519136	2276	80094											
C11orf84	144097	broad.mit.edu	37	chr11	63581183	63581183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctaaaggccgagggcgccGcactcgactgcttcgaggtg	7	6	14	14	5	0	0	0	0	0	0	2	3	0	0	3	3	1	2	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63581183G>A	ENST00000294244.4	+	1	324	c.25G>A	c.(25-27)Gca>Aca	p.A9T		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	9										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CGAGGGCGCCGCACTCGACTG	0.701													3	14					0	0	0	0	A	63581183	G	A	63581183	3	1	408	1	0	0	0	0	1	0	0	0	1678	1087	38	1	27	1	C11orf84	11	63581183	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	93803	63581183	71425333	2277	80095											
MARK2	2011	broad.mit.edu	37	chr11	63662752	63662752	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccggctcctcaagaccaTtggcaagggtaattttgcca	10	10	9	12	1	1	1	1	0	0	1	2	1	2	1	4	3	2	3	4	3	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63662752T>C	ENST00000402010.2	+	2	755	c.176T>C	c.(175-177)aTt>aCt	p.I59T	MARK2_ENST00000377810.3_Missense_Mutation_p.I26T|MARK2_ENST00000377809.4_Missense_Mutation_p.I59T|MARK2_ENST00000413835.2_Missense_Mutation_p.I59T|MARK2_ENST00000502399.3_Missense_Mutation_p.I59T|MARK2_ENST00000509502.2_Missense_Mutation_p.I26T|MARK2_ENST00000350490.7_Missense_Mutation_p.I59T|MARK2_ENST00000425897.2_Missense_Mutation_p.I26T|MARK2_ENST00000315032.8_Missense_Mutation_p.I59T|MARK2_ENST00000408948.3_Missense_Mutation_p.I26T|MARK2_ENST00000513765.2_Missense_Mutation_p.I26T|MARK2_ENST00000508192.1_Missense_Mutation_p.I59T|MARK2_ENST00000361128.5_Missense_Mutation_p.I59T	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	59	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCAAGACCATTGGCAAGGGT	0.572													26	83					0	0	0	0	C	63662752	T	C	63662752	3	2	408	1	0	0	0	0	1	0	0	0	9382	1493	52	5	182	5	MARK2	11	63662752	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	81569	63662752	71343764	2278	80096											
FERMT3	83706	broad.mit.edu	37	chr11	63986797	63986797	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggagattgactgcacCgaggaggagatgatggtgtt	10	9	17	5	1	0	4	0	2	0	2	0	9	0	6	1	5	1	2	1	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63986797C>T	ENST00000279227.5	+	7	956	c.861C>T	c.(859-861)acC>acT	p.T287T	FERMT3_ENST00000345728.5_Silent_p.T287T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	287	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TTGACTGCACCGAGGAGGAGA	0.677													6	21					0	0	0	0	T	63986797	C	T	63986797	2	4	408	1	0	0	0	0	0	0	0	1	5864	639	23	1		1	FERMT3	11	63986797	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	324045	63986797	71019719	2279	80097											
CCDC88B	283234	broad.mit.edu	37	chr11	64109474	64109474	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacctacagcggctggcTgaactgctgctggagcgaga	8	7	14	12	2	0	3	0	2	0	1	0	5	0	4	2	3	6	4	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64109474T>C	ENST00000356786.5	+	8	728	c.684T>C	c.(682-684)gcT>gcC	p.A228A	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	228					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCGGCTGGCTGAACTGCTGC	0.627													14	51					0	0	0	0	C	64109474	T	C	64109474	2	2	408	1	0	0	0	0	0	0	0	1	2891	1567	55	5		5	CCDC88B	11	64109474	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	122677	64109474	70897042	2280	80098											
CCDC88B	283234	broad.mit.edu	37	chr11	64109585	64109585	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggccaacgccaaggcTcagctgcggcgtctgcggca	7	5	14	15	4	2	0	1	0	1	0	2	0	2	0	2	4	5	4	2	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64109585T>A	ENST00000356786.5	+	8	839	c.795T>A	c.(793-795)gcT>gcA	p.A265A	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	265					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGCCAAGGCTCAGCTGCGGC	0.677													10	17					0	0	0	0	A	64109585	T	A	64109585	2	1	408	1	0	0	0	0	0	0	0	1	2891	1538	54	5		5	CCDC88B	11	64109585	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	111	64109585	70896931	2281	80099											
SLC22A11	55867	broad.mit.edu	37	chr11	64331799	64331799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgccagaatccgccCggtggctgattattaagggc	7	9	15	10	2	0	2	0	1	0	1	1	2	1	2	3	5	1	2	3	5	3	2	rs142048527	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64331799C>T	ENST00000301891.4	+	5	1215	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	SLC22A11_ENST00000377581.3_Missense_Mutation_p.R281W|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R281W|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	281					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	AGAATCCGCCCGGTGGCTGAT	0.602													19	65					0	0	0	0	T	64331799	C	T	64331799	3	4	408	1	0	0	0	0	1	0	0	0	14530	643	23	1	859	1	SLC22A11	11	64331799	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	222214	64331799	70674717	2282	80100											
SF1	7536	broad.mit.edu	37	chr11	64536983	64536983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctcctggcaacatctggCcatctttgcgcccaaccttc	6	12	6	17	1	3	0	0	0	3	0	5	0	3	0	4	2	3	1	4	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64536983C>T	ENST00000377390.3	-	6	915	c.578G>A	c.(577-579)gGc>gAc	p.G193D	SF1_ENST00000433274.2_Missense_Mutation_p.G167D|SF1_ENST00000334944.5_Missense_Mutation_p.G193D|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.G193D|SF1_ENST00000377387.1_Missense_Mutation_p.G318D|SF1_ENST00000377394.3_Missense_Mutation_p.G193D|SF1_ENST00000422298.2_Missense_Mutation_p.G78D	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	193	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAACATCTGGCCATCTTTGCG	0.517													24	329					0	0	0	0	T	64536983	C	T	64536983	3	4	408	1	0	0	0	0	1	0	0	0	14232	739	26	4	1511	4	SF1	11	64536983	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	205184	64536983	70469533	2283	80101											
SF1	7536	broad.mit.edu	37	chr11	64537511	64537511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgactttatcactcacaCgtgttgctggaggtctaaga	10	13	9	9	1	4	2	3	1	1	1	4	3	4	3	0	2	1	2	0	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64537511C>T	ENST00000377390.3	-	5	741	c.404G>A	c.(403-405)cGt>cAt	p.R135H	SF1_ENST00000433274.2_Missense_Mutation_p.R109H|SF1_ENST00000334944.5_Missense_Mutation_p.R135H|SF1_ENST00000227503.9_Missense_Mutation_p.R135H|SF1_ENST00000377387.1_Missense_Mutation_p.R260H|SF1_ENST00000377394.3_Missense_Mutation_p.R135H|SF1_ENST00000422298.2_Missense_Mutation_p.R20H	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	135					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATCACTCACACGTGTTGCTGG	0.463													7	37					0	0	0	0	T	64537511	C	T	64537511	3	4	408	1	0	0	0	0	1	0	0	0	14232	536	19	1	1689	1	SF1	11	64537511	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	528	64537511	70469005	2284	80102											
CDC42BPG	55561	broad.mit.edu	37	chr11	64599131	64599131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgttcccgctccccctcGctctctgccagcagcagcac	5	7	8	21	3	1	0	0	0	1	0	5	0	3	0	4	0	5	6	4	0	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64599131G>A	ENST00000342711.5	-	28	3149	c.3150C>T	c.(3148-3150)agC>agT	p.S1050S	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1050	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCTCCCCCTCGCTCTCTGCCA	0.697											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	16					0	0	0	0	A	64599131	G	A	64599131	2	1	408	1	0	0	0	0	0	0	0	1	3103	1078	38	1		1	CDC42BPG	11	64599131	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	61620	64599131	70407385	2285	80103											
EHD1	10938	broad.mit.edu	37	chr11	64622229	64622229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgccgcaccatcaccAtcagccgcgcgatgtcgttg	6	8	9	18	5	2	0	2	0	0	0	4	1	3	0	6	0	2	2	6	0	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64622229A>G	ENST00000320631.3	-	5	1435	c.1181T>C	c.(1180-1182)aTg>aCg	p.M394T	EHD1_ENST00000359393.2_Missense_Mutation_p.M394T|EHD1_ENST00000488711.1_5'UTR	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	394					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CACCATCACCATCAGCCGCGC	0.642													107	304					0	0	0	0	G	64622229	A	G	64622229	3	3	408	1	0	0	0	0	1	0	0	0	5013	217	8	5	427	5	EHD1	11	64622229	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	23098	64622229	70384287	2286	80104											
SYVN1	84447	broad.mit.edu	37	chr11	64897199	64897199	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcccctgtacagacacAccccaaggaggccagcacgg	10	5	10	16	1	0	1	0	0	0	1	1	2	1	2	5	3	3	3	5	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64897199A>G	ENST00000526060.1	-	14	1785		c.e14+1		SYVN1_ENST00000377190.3_Splice_Site|SYVN1_ENST00000307289.6_Splice_Site|SYVN1_ENST00000294256.8_Splice_Site			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin						ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GTACAGACACACCCCAAGGAG	0.607													18	63					0	0	0	0	G	64897199	A	G	64897199	5	3	408	1	0	0	0	0	0	0	1	0	15578	173	6	5	268	5	SYVN1	11	64897199	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	274970	64897199	70109317	2287	80105											
DPF2	5977	broad.mit.edu	37	chr11	65108004	65108004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctggatggaaaagcgaCaccggggtccaggtgagggt	11	6	16	8	2	1	1	0	1	1	0	2	4	2	3	2	6	1	0	2	6	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65108004C>A	ENST00000528416.1	+	2	314	c.181C>A	c.(181-183)Cac>Aac	p.H61N	DPF2_ENST00000415073.2_Missense_Mutation_p.H61N|DPF2_ENST00000252268.4_Missense_Mutation_p.H61N|DPF2_ENST00000532264.1_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	61					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GGAAAAGCGACACCGGGGTCC	0.557													24	125					1.64293e-13	1.71518e-13	1	0	A	65108004	C	A	65108004	3	1	408	1	0	0	0	0	1	0	0	0	4753	478	17	4	187	4	DPF2	11	65108004	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	210805	65108004	69898512	2288	80106											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349873	65349873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaacagagactgaggtggTagggttggaggtgctgggaa	11	7	20	3	0	0	2	0	1	0	1	0	6	0	5	0	7	2	3	0	7	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65349873T>C	ENST00000309295.4	+	9	1995	c.1730T>C	c.(1729-1731)gTa>gCa	p.V577A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	577	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTGAGGTGGTAGGGTTGGAG	0.567													21	43					0	0	0	0	C	65349873	T	C	65349873	3	2	408	1	0	0	0	0	1	0	0	0	5012	1638	57	5	1764	5	EHBP1L1	11	65349873	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	241869	65349873	69656643	2289	80107											
SIPA1	6494	broad.mit.edu	37	chr11	65413733	65413733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaacgacattgtgaccatCgtgttccaggagcctggcag	9	8	13	11	2	0	1	0	1	0	0	2	3	1	2	3	3	2	3	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65413733C>T	ENST00000394224.3	+	7	1601	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	SIPA1_ENST00000534313.1_Silent_p.I435I|SIPA1_ENST00000527525.1_Silent_p.I435I|SIPA1_ENST00000394227.3_Silent_p.I435I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	435	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TTGTGACCATCGTGTTCCAGG	0.612													47	159					0	0	0	0	T	65413733	C	T	65413733	2	4	408	1	0	0	0	0	0	0	0	1	14416	874	31	1		1	SIPA1	11	65413733	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	63860	65413733	69592783	2290	80108											
C11orf68	83638	broad.mit.edu	37	chr11	65685199	65685199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccaccctccttggcacGtgggctcaccttggccacct	4	8	10	19	2	1	0	1	0	0	0	2	0	2	0	6	3	0	2	6	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65685199G>A	ENST00000438576.2	-	2	698	c.613C>T	c.(613-615)Cgt>Tgt	p.R205C	C11orf68_ENST00000449692.3_Missense_Mutation_p.R204C|C11orf68_ENST00000530188.1_Missense_Mutation_p.R163C			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	163										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		TCCTTGGCACGTGGGCTCACC	0.642													19	25					0	0	0	0	A	65685199	G	A	65685199	3	1	408	1	0	0	0	0	1	0	0	0	1669	1145	40	1	272	1	C11orf68	11	65685199	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	271466	65685199	69321317	2291	80109											
EIF1AD	84285	broad.mit.edu	37	chr11	65766125	65766125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcatgatactgtctgcggTttgtgttaacaaacaggtca	10	14	9	8	1	3	1	2	1	2	0	4	1	3	1	0	2	4	2	0	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65766125T>C	ENST00000312234.2	-	6	777	c.443A>G	c.(442-444)aAc>aGc	p.N148S	EIF1AD_ENST00000533544.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000525767.1_Missense_Mutation_p.N96S|EIF1AD_ENST00000527249.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000526451.1_Missense_Mutation_p.N148S	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	148						nucleus	translation initiation factor activity			lung(5)	5						CTGTCTGCGGTTTGTGTTAAC	0.532													5	281					0	0	0	0	C	65766125	T	C	65766125	3	2	408	1	0	0	0	0	1	0	0	0	5027	1725	60	5	58	5	EIF1AD	11	65766125	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	80926	65766125	69240391	2292	80110											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810721	65810721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtatgcctcgggcgcgcGcaggaaggcctcgagcgagg	7	5	18	11	6	0	0	0	0	0	0	2	3	0	1	2	4	2	3	2	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65810721G>A	ENST00000312006.4	-	3	834	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R185C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	185					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TCGGGCGCGCGCAGGAAGGCC	0.682													23	55					0	0	0	0	A	65810721	G	A	65810721	3	1	408	1	0	0	0	0	1	0	0	0	6248	1087	38	1	746	1	GAL3ST3	11	65810721	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	44596	65810721	69195795	2293	80111											
YIF1A	10897	broad.mit.edu	37	chr11	66055346	66055346	+	Frame_Shift_Del	DEL	A	A	-																															acgtaggctgtgtccacagcAaaaaaatacttgagtttgct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66055346delA	ENST00000376901.4	-	3	469	c.285delT	c.(283-285)ttfs	p.F95fs	YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.F95fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	95					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGTCCACAGCAAAAAAATACT	0.592													8	303	---	---	---	---					-	66055346	A	-	66055346	7	5	408	1	0	1	0	1	0	0	0	0	17571	127	5	0	620	0	YIF1A	11	66055346	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	244625	66055346	68951170	2294	80112											
BRMS1	25855	broad.mit.edu	37	chr11	66107675	66107675	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcgtgcagtttgtcaTcccaccattctgccccgaga	6	11	9	15	2	3	1	1	0	2	1	4	2	4	1	4	1	2	2	4	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66107675T>A	ENST00000359957.3	-	7	705	c.545A>T	c.(544-546)gAt>gTt	p.D182V	BRMS1_ENST00000425825.2_Missense_Mutation_p.D182V	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	182					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CAGTTTGTCATCCCACCATTC	0.597													22	50					0	0	0	0	A	66107675	T	A	66107675	3	1	408	1	0	0	0	0	1	0	0	0	1524	1435	50	5	355	5	BRMS1	11	66107675	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	52329	66107675	68898841	2295	80113											
BBS1	582	broad.mit.edu	37	chr11	66281968	66281968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgaaagcccgctacctgCtctgccagctgctgctgcca	7	7	10	17	2	1	0	0	0	1	0	1	2	1	0	5	0	8	5	5	0	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66281968C>A	ENST00000419755.3	+	4	440	c.362C>A	c.(361-363)gCt>gAt	p.A121D	BBS1_ENST00000455748.2_Missense_Mutation_p.A84D|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000393994.2_Missense_Mutation_p.A84D|BBS1_ENST00000318312.7_Missense_Mutation_p.A84D|BBS1_ENST00000529766.1_3'UTR																							CCGCTACCTGCTCTGCCAGCT	0.607													8	368					0.000274275	0.00027791	1	0	A	66281968	C	A	66281968	3	1	408	1	0	0	0	0	1	0	0	0	1339	797	28	4	265	4	BBS1	11	66281968	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	174293	66281968	68724548	2296	80114											
RBM4B	83759	broad.mit.edu	37	chr11	66436573	66436573	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccccgtagcccatggtgTaaggtgttcgaactgctcca	8	11	10	12	2	0	0	0	0	0	0	3	1	2	0	4	2	3	4	4	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66436573T>C	ENST00000525754.1	-	2	1270	c.602A>G	c.(601-603)tAc>tGc	p.Y201C	RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000310046.4_Missense_Mutation_p.Y201C			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	201	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						GCCCATGGTGTAAGGTGTTCG	0.502													4	84					0	0	0	0	C	66436573	T	C	66436573	3	2	408	1	0	0	0	0	1	0	0	0	13224	1638	57	5	481	5	RBM4B	11	66436573	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	154605	66436573	68569943	2297	80115											
KDM2A	22992	broad.mit.edu	37	chr11	66983411	66983412	+	Frame_Shift_Ins	INS	-	-	G																															tttggtatcacatccatcaaINSgggggaaaggtatggtcata																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66983411_66983412insG	ENST00000529006.2	+	8	1124_1125	c.678_679insG	c.(676-681)caggggfs	p.QG226fs	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Frame_Shift_Ins_p.QG226fs	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	226	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACATCCATCAAGGGGGAAAGGT	0.421													10	318	---	---	---	---					G	66983412	-	G	66983411	7	5	408	1	0	1	1	0	0	0	0	0	8177	69	3	0	704	0	KDM2A	11	66983411	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	546838	66983411	68023105	2298	80116											
KDM2A	22992	broad.mit.edu	37	chr11	66986772	66986772	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaggctggattcatgcTgtgtatactcctacagacac	9	12	8	12	0	1	1	1	0	0	1	3	2	3	2	2	2	3	3	2	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66986772T>C	ENST00000529006.2	+	10	1301	c.855T>C	c.(853-855)gcT>gcC	p.A285A	KDM2A_ENST00000398645.2_Silent_p.A285A|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	285	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGATTCATGCTGTGTATACTC	0.428													8	28					0	0	0	0	C	66986772	T	C	66986772	2	2	408	1	0	0	0	0	0	0	0	1	8177	1567	55	5		5	KDM2A	11	66986772	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3361	66986772	68019744	2299	80117											
CORO1B	57175	broad.mit.edu	37	chr11	67208934	67208934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgcaggctgtccaggcggTacagctcctccgctgtgccc	4	8	14	15	2	0	0	0	0	0	0	3	0	3	0	4	4	4	5	4	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:67208934T>C	ENST00000393893.1	-	6	609	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	CORO1B_ENST00000453768.2_Missense_Mutation_p.Y169C|CORO1B_ENST00000341356.5_Missense_Mutation_p.Y169C|CORO1B_ENST00000545016.1_3'UTR	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	169					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTCCAGGCGGTACAGCTCCTC	0.607													20	43					0	0	0	0	C	67208934	T	C	67208934	3	2	408	1	0	0	0	0	1	0	0	0	3784	1638	57	5	991	5	CORO1B	11	67208934	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	222162	67208934	67797582	2300	80118											
PITPNM1	9600	broad.mit.edu	37	chr11	67264864	67264864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaggccgtgcttgcccGccggggctcccaggaggagg	6	4	18	13	3	0	1	0	0	0	1	1	3	1	3	4	6	2	3	4	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:67264864G>A	ENST00000356404.3	-	14	2209	c.1984C>T	c.(1984-1986)Cgg>Tgg	p.R662W	PITPNM1_ENST00000534749.1_Missense_Mutation_p.R662W|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R662W	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	662					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTGCTTGCCCGCCGGGGCTCC	0.672													20	52					0	0	0	0	A	67264864	G	A	67264864	3	1	408	1	0	0	0	0	1	0	0	0	12022	1086	38	1	1794	1	PITPNM1	11	67264864	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	55930	67264864	67741652	2301	80119											
PITPNM1	9600	broad.mit.edu	37	chr11	67267648	67267649	+	Frame_Shift_Ins	INS	-	-	G																															cgggggaggcatctgggcctINSgggggggcctcaggcccatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:67267648_67267649insG	ENST00000356404.3	-	6	1109_1110	c.884_885insC	c.(883-885)cggfs	p.R295fs	PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.R295fs|PITPNM1_ENST00000534749.1_Frame_Shift_Ins_p.R295fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	295					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCTC	0.693													34	95	---	---	---	---					G	67267649	-	G	67267648	7	5	408	1	0	1	1	0	0	0	0	0	12022	1567	55	0	2925	0	PITPNM1	11	67267648	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	2784	67267648	67738868	2302	80120											
C11orf24	53838	broad.mit.edu	37	chr11	68029987	68029987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaagtgtcatgggagtgCtggaggccgcagtcatactg	8	9	16	8	1	2	0	2	0	0	0	2	2	2	2	1	3	3	3	1	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:68029987C>T	ENST00000304271.6	-	4	878	c.476G>A	c.(475-477)aGc>aAc	p.S159N	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	159						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CATGGGAGTGCTGGAGGCCGC	0.637													16	34					0	0	0	0	T	68029987	C	T	68029987	3	4	408	1	0	0	0	0	1	0	0	0	1646	797	28	4	877	4	C11orf24	11	68029987	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	762339	68029987	66976529	2303	80121											
MRGPRD	116512	broad.mit.edu	37	chr11	68748329	68748329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcaccatgctgttgcctgCcatcccgcacaggcaggtga	8	8	11	14	1	1	1	1	1	0	0	2	2	2	1	4	2	3	4	4	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:68748329C>T	ENST00000309106.3	-	1	126	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	43						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGTTGCCTGCCATCCCGCAC	0.592													16	66					0	0	0	0	T	68748329	C	T	68748329	3	4	408	1	0	0	0	0	1	0	0	0	9833	739	26	4	841	4	MRGPRD	11	68748329	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	718342	68748329	66258187	2304	80122											
TPCN2	219931	broad.mit.edu	37	chr11	68822243	68822243	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgatgtggctttaccgacggTattactcgaacgtatgccaa	10	11	10	10	5	0	0	0	0	0	0	1	3	0	0	2	2	4	3	2	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:68822243T>C	ENST00000294309.3	+	3	330	c.229T>C	c.(229-231)Tat>Cat	p.Y77H	TPCN2_ENST00000542467.1_Missense_Mutation_p.Y77H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	77					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTACCGACGGTATTACTCGAA	0.592													8	28					0	0	0	0	C	68822243	T	C	68822243	3	2	408	1	0	0	0	0	1	0	0	0	16491	1638	57	5	239	5	TPCN2	11	68822243	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	73914	68822243	66184273	2305	80123											
PPFIA1	8500	broad.mit.edu	37	chr11	70224303	70224303	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaagatgcagatggacggTatgtgatgggtcacactaac	14	8	13	6	1	1	4	1	1	0	3	1	5	1	5	0	3	2	2	0	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:70224303T>C	ENST00000253925.7	+	26	3765		c.e26+2		PPFIA1_ENST00000389547.3_Silent_p.G1184G|PPFIA1_ENST00000530548.1_Splice_Site|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGATGGACGGTATGTGATGGG	0.463													21	71					0	0	0	0	C	70224303	T	C	70224303	5	2	408	1	0	0	0	0	0	0	1	0	12380	1652	57	5	3650	5	PPFIA1	11	70224303	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1402060	70224303	64782213	2306	80124											
CTTN	2017	broad.mit.edu	37	chr11	70253658	70253658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaggagcaaagatggggtgCcaagacggtgcagggctccg	11	4	18	8	2	0	2	0	0	0	2	1	4	1	3	2	5	3	3	2	5	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:70253658C>G	ENST00000346329.3	+	4	430	c.122C>G	c.(121-123)gCc>gGc	p.A41G	CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000376561.3_Missense_Mutation_p.A41G|CTTN_ENST00000301843.8_Missense_Mutation_p.A41G	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	41						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGATGGGGTGCCAAGACGGTG	0.572													4	125					0	0	0	0	G	70253658	C	G	70253658	3	3	408	1	0	0	0	0	1	0	0	0	4076	739	26	4	128	4	CTTN	11	70253658	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	29355	70253658	64752858	2307	80125											
NADSYN1	55191	broad.mit.edu	37	chr11	71175157	71175157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggcaactaccgcgagCtgcgctggttcaccccgtgg	8	7	13	13	4	1	1	1	1	0	0	1	2	1	1	3	3	4	4	3	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:71175157C>T	ENST00000319023.2	+	5	564	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	126	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACCGCGAGCTGCGCTGGTT	0.617													4	10					0	0	0	0	T	71175157	C	T	71175157	2	4	408	1	0	0	0	0	0	0	0	1	10208	796	28	4		4	NADSYN1	11	71175157	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	921499	71175157	63831359	2308	80126											
NUMA1	4926	broad.mit.edu	37	chr11	71723445	71723445	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcgaggacctcaggcattAcctgcttagtttgctctctc	7	13	9	12	1	2	0	1	0	1	0	4	2	2	1	2	2	4	4	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:71723445A>G	ENST00000393695.3	-	16	4982		c.e16+1		NUMA1_ENST00000358965.6_Intron|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1						G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCAGGCATTACCTGCTTAGT	0.547			T	RARA	APL								21	101					0	0	0	0	G	71723445	A	G	71723445	5	3	408	1	0	0	0	0	0	0	1	0	10821	405	14	5	1743	5	NUMA1	11	71723445	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	548288	71723445	63283071	2309	80127											
CLPB	81570	broad.mit.edu	37	chr11	72114048	72114048	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgccaccatgagtgctgtCcagccaagtctgtgctttgc	6	11	11	13	0	1	1	0	1	1	0	2	1	2	1	4	0	5	3	4	0	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:72114048C>T	ENST00000294053.3	-	3	677	c.504G>A	c.(502-504)tgG>tgA	p.W168*	CLPB_ENST00000340729.5_Intron|CLPB_ENST00000445069.2_Nonsense_Mutation_p.W64*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.W123*|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Nonsense_Mutation_p.W168*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	168					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGAGTGCTGTCCAGCCAAGTC	0.498													17	55					0	0	0	0	T	72114048	C	T	72114048	4	4	408	1	0	0	0	0	0	1	0	0	3581	856	30	2	1679	2	CLPB	11	72114048	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	390603	72114048	62892468	2310	80128											
PDE2A	5138	broad.mit.edu	37	chr11	72307674	72307674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccccagcctccttgtccGctagcggcatgaccagcact	6	7	10	18	3	0	1	0	1	0	0	2	1	2	1	6	2	3	3	6	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:72307674G>A	ENST00000334456.5	-	6	697	c.452C>T	c.(451-453)gCg>gTg	p.A151V	PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000540345.1_Missense_Mutation_p.A142V|PDE2A_ENST00000444035.2_Missense_Mutation_p.A142V|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.A144V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	151					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTCCTTGTCCGCTAGCGGCAT	0.652													18	49					0	0	0	0	A	72307674	G	A	72307674	3	1	408	1	0	0	0	0	1	0	0	0	11707	1087	38	1	2477	1	PDE2A	11	72307674	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	193626	72307674	62698842	2311	80129											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021624	73021624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtctgacagatgaaggCattggggcagaccctgagcc	10	7	13	11	0	1	5	0	3	1	2	2	5	2	5	3	3	1	2	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73021624C>T	ENST00000263674.3	+	1	2291	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	647					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGATGAAGGCATTGGGGCAG	0.637													22	54					0	0	0	0	T	73021624	C	T	73021624	2	4	408	1	0	0	0	0	0	0	0	1	902	697	25	4		4	ARHGEF17	11	73021624	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	713950	73021624	61984892	2312	80130											
RELT	84957	broad.mit.edu	37	chr11	73101867	73101868	+	Frame_Shift_Ins	INS	-	-	C																															tcagctgcatggggctccagINScccatgccagccccatgccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73101867_73101868insC	ENST00000064780.2	+	4	449_450	c.188_189insC	c.(187-189)accfs	p.T63fs	RELT_ENST00000393580.2_Frame_Shift_Ins_p.T63fs	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	63						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TGGGGCTCCAGCCCATGCCAGC	0.649													11	132	---	---	---	---					C	73101868	-	C	73101867	7	5	408	1	0	1	1	0	0	0	0	0	13303	971	34	0	198	0	RELT	11	73101867	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	80243	73101867	61904649	2313	80131											
PLEKHB1	58473	broad.mit.edu	37	chr11	73366910	73366910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctccaaggtcaggtgtgtGacccgctcgtggagcccctg	5	9	14	13	2	1	1	1	1	0	0	3	2	2	2	4	3	2	2	4	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73366910G>A	ENST00000354190.5	+	6	884	c.453G>A	c.(451-453)gtG>gtA	p.V151V	PLEKHB1_ENST00000398492.4_Intron|PLEKHB1_ENST00000398494.4_Silent_p.V132V|PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000227214.6_Intron|PLEKHB1_ENST00000535129.1_Intron	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	151					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						TCAGGTGTGTGACCCGCTCGT	0.642													21	68					0	0	0	0	A	73366910	G	A	73366910	2	1	408	1	0	0	0	0	0	0	0	1	12136	1277	45	2		2	PLEKHB1	11	73366910	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	265043	73366910	61639606	2314	80132											
DNAJB13	374407	broad.mit.edu	37	chr11	73679470	73679470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccgcagggagaatgacaaCctcttcttcgtgaaccccat	10	10	8	13	2	2	3	0	2	2	1	4	4	3	3	4	1	2	1	4	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73679470C>G	ENST00000339764.1	+	6	1438	c.687C>G	c.(685-687)aaC>aaG	p.N229K	DNAJB13_ENST00000543947.1_Missense_Mutation_p.N54K|RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_Missense_Mutation_p.N54K	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	229					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	p.L230fs*5(1)		large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AGAATGACAACCTCTTCTTCG	0.582													11	44					0	0	0	0	G	73679470	C	G	73679470	3	3	408	1	0	0	0	0	1	0	0	0	4654	506	18	4	709	4	DNAJB13	11	73679470	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	312560	73679470	61327046	2315	80133											
UCP3	7352	broad.mit.edu	37	chr11	73716870	73716870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctggatggcccgaggTgtatgctggcctgaaatcgg	6	9	15	11	3	0	1	0	1	0	0	2	3	1	2	3	5	1	3	3	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73716870T>C	ENST00000314032.4	-	4	998	c.446A>G	c.(445-447)cAc>cGc	p.H149R	UCP3_ENST00000426995.2_Missense_Mutation_p.H149R|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	149					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGGCCCGAGGTGTATGCTGGC	0.602													9	96					0	0	0	0	C	73716870	T	C	73716870	3	2	408	1	0	0	0	0	1	0	0	0	17028	1696	59	5	512	5	UCP3	11	73716870	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	37400	73716870	61289646	2316	80134											
POLD3	10714	broad.mit.edu	37	chr11	74324006	74324006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaggacagtgggcctctgTtcaatactgactatgacatc	12	11	9	9	0	2	2	1	2	1	0	3	3	2	3	1	2	1	1	1	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:74324006T>C	ENST00000263681.2	+	5	472	c.343T>C	c.(343-345)Ttc>Ctc	p.F115L	POLD3_ENST00000527458.1_Missense_Mutation_p.F76L|POLD3_ENST00000532497.1_Missense_Mutation_p.F9L	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	115					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TGGGCCTCTGTTCAATACTGA	0.443													45	127					0	0	0	0	C	74324006	T	C	74324006	3	2	408	1	0	0	0	0	1	0	0	0	12264	1725	60	5	361	5	POLD3	11	74324006	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	607136	74324006	60682510	2317	80135											
POLD3	10714	broad.mit.edu	37	chr11	74347277	74347277	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaagaaaacgaaaacgCgtactaaaatctaaaactta	24	6	4	7	3	1	1	0	0	1	1	1	2	1	1	0	0	5	1	0	0	13	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:74347277C>A	ENST00000263681.2	+	11	1284	c.1155C>A	c.(1153-1155)cgC>cgA	p.R385R	POLD3_ENST00000527458.1_Silent_p.R346R|POLD3_ENST00000532497.1_Silent_p.R279R	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	385					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AACGAAAACGCGTACTAAAAT	0.368													19	36					3.62473e-10	3.7563e-10	1	0	A	74347277	C	A	74347277	2	1	408	1	0	0	0	0	0	0	0	1	12264	755	27	3		3	POLD3	11	74347277	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	23271	74347277	60659239	2318	80136											
SLCO2B1	11309	broad.mit.edu	37	chr11	74915461	74915463	+	In_Frame_Del	DEL	TTC	TTC	-																															ccaggttcatcggcctccagTtcttcttcaaaacaggttct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:74915461_74915463delTTC	ENST00000289575.5	+	14	2361_2363	c.1966_1968delTTC	c.(1966-1968)del	p.F658del	SLCO2B1_ENST00000454962.2_In_Frame_Del_p.F431del|SLCO2B1_ENST00000525650.1_In_Frame_Del_p.F514del|SLCO2B1_ENST00000428359.2_In_Frame_Del_p.F636del|SLCO2B1_ENST00000341411.4_In_Frame_Del_p.F431del|SLCO2B1_ENST00000532236.1_In_Frame_Del_p.F542del	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	658					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CGGCCTCCAGTTCTTCTTCAAAA	0.527													27	139	---	---	---	---					-	74915463	TTC	-	74915461	7	5	408	1	0	1	0	1	0	0	0	0	14815	1725	60	0	2020	0	SLCO2B1	11	74915461	In_Frame_Del	DEL	TTC	TCGA-F7-A624-01A-22D-A30E-08	568184	74915461	60091055	2319	80137											
MAP6	4135	broad.mit.edu	37	chr11	75298324	75298324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcagaggttcagggactAtacgaccttgattctttgga	9	14	10	8	1	4	2	2	1	2	1	4	5	4	4	1	3	1	1	1	3	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:75298324A>G	ENST00000304771.3	-	4	2972	c.2222T>C	c.(2221-2223)aTa>aCa	p.I741T	MAP6_ENST00000526740.1_Missense_Mutation_p.I412T|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	741	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTCAGGGACTATACGACCTTG	0.512													72	197					0	0	0	0	G	75298324	A	G	75298324	3	3	408	1	0	0	0	0	1	0	0	0	9333	449	16	5	223	5	MAP6	11	75298324	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	382863	75298324	59708192	2320	80138											
PRKRIR	5612	broad.mit.edu	37	chr11	76063224	76063224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaagcctggccacgacaatActccatatttaatccccact	12	10	5	14	1	0	0	0	0	0	0	2	1	2	0	5	1	2	1	5	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76063224A>G	ENST00000260045.3	-	5	1075	c.970T>C	c.(970-972)Tat>Cat	p.Y324H		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	324					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCACGACAATACTCCATATTT	0.388													41	114					0	0	0	0	G	76063224	A	G	76063224	3	3	408	1	0	0	0	0	1	0	0	0	12606	391	14	5	1319	5	PRKRIR	11	76063224	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	764900	76063224	58943292	2321	80139											
C11orf30	56946	broad.mit.edu	37	chr11	76169245	76169245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatgtctggacctaatagCtcttcagaatggtccattga	11	13	9	8	0	3	2	1	1	2	1	4	3	4	3	2	2	1	2	2	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76169245C>A	ENST00000529032.1	+	4	264	c.264C>A	c.(262-264)agC>agA	p.S88R	C11orf30_ENST00000334736.3_Missense_Mutation_p.S88R|C11orf30_ENST00000525038.1_Missense_Mutation_p.S102R|C11orf30_ENST00000343878.3_Missense_Mutation_p.S88R|C11orf30_ENST00000525919.1_Missense_Mutation_p.S88R|C11orf30_ENST00000524490.1_Missense_Mutation_p.S88R|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000524767.1_Missense_Mutation_p.S102R|C11orf30_ENST00000533248.1_Missense_Mutation_p.S102R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	88	ENT.|Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GACCTAATAGCTCTTCAGAAT	0.408													21	100					6.33239e-15	6.63078e-15	1	0	A	76169245	C	A	76169245	3	1	408	1	0	0	0	0	1	0	0	0	1647	796	28	4	278	4	C11orf30	11	76169245	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	106021	76169245	58837271	2322	80140											
C11orf30	56946	broad.mit.edu	37	chr11	76261120	76261120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagacagcaatggagcAggacatagacagtagcacgg	15	4	15	7	1	0	3	0	1	0	2	0	6	0	5	0	4	3	4	0	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76261120A>G	ENST00000529032.1	+	20	3899	c.3899A>G	c.(3898-3900)cAg>cGg	p.Q1300R	C11orf30_ENST00000334736.3_Missense_Mutation_p.Q1300R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q1301R|C11orf30_ENST00000343878.3_Missense_Mutation_p.Q1133R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q1301R|C11orf30_ENST00000524490.1_Missense_Mutation_p.Q1202R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q1315R|C11orf30_ENST00000533248.1_Missense_Mutation_p.Q1209R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1300					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCAATGGAGCAGGACATAGAC	0.507													19	49					0	0	0	0	G	76261120	A	G	76261120	3	3	408	1	0	0	0	0	1	0	0	0	1647	188	7	5	3977	5	C11orf30	11	76261120	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	91875	76261120	58745396	2323	80141											
TSKU	25987	broad.mit.edu	37	chr11	76507404	76507404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgagctggcgcccagTggcttccgtgagctaccggg	4	8	14	15	3	0	2	0	2	0	0	2	2	2	2	4	3	3	3	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76507404T>C	ENST00000527881.1	+	2	1770	c.744T>C	c.(742-744)agT>agC	p.S248S	TSKU_ENST00000333090.4_Silent_p.S248S			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	248			S -> N (in dbSNP:rs11236938).			extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGCGCCCAGTGGCTTCCGTG	0.652													15	197					0	0	0	0	C	76507404	T	C	76507404	2	2	408	1	0	0	0	0	0	0	0	1	16722	1693	59	5		5	TSKU	11	76507404	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	246284	76507404	58499112	2324	80142											
ACER3	55331	broad.mit.edu	37	chr11	76687369	76687369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgatatacagctgttgcAtatttgtgtactgcatgtaa	12	15	8	6	0	0	1	0	1	0	0	0	1	0	1	0	0	5	6	0	0	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76687369A>G	ENST00000532485.1	+	4	408	c.304A>G	c.(304-306)Ata>Gta	p.I102V	ACER3_ENST00000526597.1_Missense_Mutation_p.I7V|ACER3_ENST00000530182.1_3'UTR|CTD-2547H18.1_ENST00000530190.1_RNA|ACER3_ENST00000538157.1_Missense_Mutation_p.I60V|ACER3_ENST00000533873.1_Missense_Mutation_p.I65V	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	102					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						CAGCTGTTGCATATTTGTGTA	0.279													8	30					0	0	0	0	G	76687369	A	G	76687369	3	3	408	1	0	0	0	0	1	0	0	0	140	217	8	5	318	5	ACER3	11	76687369	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	179965	76687369	58319147	2325	80143											
PAK1	5058	broad.mit.edu	37	chr11	77048409	77048409	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccaacagaatattgtcActcttgatgtctctgtgaat	11	15	6	9	0	3	3	1	2	2	1	5	3	4	3	1	0	1	0	1	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:77048409A>G	ENST00000356341.3	-	12	1707	c.1176T>C	c.(1174-1176)agT>agC	p.S392S	PAK1_ENST00000528203.1_Silent_p.S294S|PAK1_ENST00000278568.4_Silent_p.S392S|PAK1_ENST00000530617.1_Silent_p.S392S|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	392	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GAATATTGTCACTCTTGATGT	0.478													7	22					0	0	0	0	G	77048409	A	G	77048409	2	3	408	1	0	0	0	0	0	0	0	1	11470	156	6	5		5	PAK1	11	77048409	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	361040	77048409	57958107	2326	80144											
RSF1	51773	broad.mit.edu	37	chr11	77451921	77451921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagacgcatagtatcggcatCctcctcattaataatattct	12	13	6	10	2	2	1	1	0	1	1	5	2	4	1	2	1	0	3	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:77451921C>T	ENST00000308488.6	-	4	735	c.433G>A	c.(433-435)Gat>Aat	p.D145N	RSF1_ENST00000360355.2_Missense_Mutation_p.D114N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	145					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTATCGGCATCCTCCTCATTA	0.378													13	47					0	0	0	0	T	77451921	C	T	77451921	3	4	408	1	0	0	0	0	1	0	0	0	13784	855	30	2	3944	2	RSF1	11	77451921	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	403512	77451921	57554595	2327	80145											
GAB2	9846	broad.mit.edu	37	chr11	77934490	77934490	+	Frame_Shift_Del	DEL	G	G	-																															gtttgaggttgcggttgacaGggggtggctgaatctcactt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:77934490delG	ENST00000361507.4	-	6	1620	c.1535delC	c.(1534-1536)ctfs	p.P512fs	GAB2_ENST00000340149.2_Frame_Shift_Del_p.P474fs	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	512					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GCGGTTGACAGGGGGTGGCTG	0.552													53	120	---	---	---	---					-	77934490	G	-	77934490	7	5	408	1	0	1	0	1	0	0	0	0	6197	1000	35	0	515	0	GAB2	11	77934490	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	482569	77934490	57072026	2328	80146											
SYTL2	54843	broad.mit.edu	37	chr11	85445199	85445199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgattgatgaaaaagCgaaggctttctgtattgaga	13	12	13	3	1	1	4	0	4	1	1	1	7	1	4	0	2	1	3	0	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:85445199C>T	ENST00000316356.4	-	7	1737	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398													43	76					0	0	0	0	T	85445199	C	T	85445199	2	4	408	1	0	0	0	0	0	0	0	1	15574	755	27	1		1	SYTL2	11	85445199	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	7510709	85445199	49561317	2329	80147											
PICALM	8301	broad.mit.edu	37	chr11	85701438	85701438	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatctacagtagcagagaaAggatctgtgcagtccaaatg	14	8	11	8	0	2	1	0	0	2	1	3	3	3	2	1	1	3	4	1	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:85701438A>G	ENST00000393346.3	-	13	1411	c.1263T>C	c.(1261-1263)ccT>ccC	p.P421P	PICALM_ENST00000532317.1_Intron|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000526033.1_Intron|PICALM_ENST00000356360.5_Silent_p.P421P			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	421					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TAGCAGAGAAAGGATCTGTGC	0.343			T	"MLLT10, MLL"	"TALL, AML, "								22	54					0	0	0	0	G	85701438	A	G	85701438	2	3	408	1	0	0	0	0	0	0	0	1	11952	59	3	5		5	PICALM	11	85701438	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	256239	85701438	49305078	2330	80148											
FZD4	8322	broad.mit.edu	37	chr11	86662997	86662997	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcctgacaatataagcAatgctataaatattatagca	17	11	6	7	0	1	1	1	1	0	0	1	1	1	1	1	0	4	3	1	0	10	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:86662997A>G	ENST00000531380.1	-	2	1106	c.801T>C	c.(799-801)atT>atC	p.I267I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	267					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATATAAGCAATGCTATAAA	0.438													12	27					0	0	0	0	G	86662997	A	G	86662997	2	3	408	1	0	0	0	0	0	0	0	1	6180	126	5	5		5	FZD4	11	86662997	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	961559	86662997	48343519	2331	80149											
TMEM135	65084	broad.mit.edu	37	chr11	86778844	86778844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaatggggccttgtatatgGctttcttttgcattttaagg	7	18	10	6	0	1	0	0	0	1	0	1	0	1	0	1	4	1	3	1	4	4	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:86778844G>A	ENST00000340353.7	+	2	452	c.250G>A	c.(250-252)Gct>Act	p.A84T	TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000355734.4_Missense_Mutation_p.A84T|TMEM135_ENST00000305494.5_Missense_Mutation_p.A84T	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	84						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTATATGGCTTTCTTTTG	0.338													20	32					0	0	0	0	A	86778844	G	A	86778844	3	1	408	1	0	0	0	0	1	0	0	0	16145	1203	42	4	256	4	TMEM135	11	86778844	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	115847	86778844	48227672	2332	80150											
CTSC	1075	broad.mit.edu	37	chr11	88033761	88033761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccagtcccaagatgttgGcaaatgcaaaatcttttgct	11	13	7	10	0	2	1	0	0	2	1	4	1	3	1	2	1	2	4	2	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:88033761G>T	ENST00000227266.5	-	5	808	c.694C>A	c.(694-696)Cca>Aca	p.P232T		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	232					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGATGTTGGCAAATGCAAA	0.343													14	65					0.000219431	0.000222589	1	0	T	88033761	G	T	88033761	3	4	408	1	0	0	0	0	1	0	0	0	4063	1203	42	4	709	4	CTSC	11	88033761	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1254917	88033761	46972755	2333	80151											
FAT3	120114	broad.mit.edu	37	chr11	92085904	92085904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttcagttcaccccaCgagtggtgtcatctccttaa	7	15	6	13	1	5	0	3	0	2	0	7	1	5	0	3	1	0	1	3	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:92085904C>T	ENST00000298047.6	+	1	643	c.626C>T	c.(625-627)aCg>aTg	p.T209M	FAT3_ENST00000541502.1_Missense_Mutation_p.T209M|FAT3_ENST00000525166.1_Missense_Mutation_p.T59M|FAT3_ENST00000409404.2_Missense_Mutation_p.T209M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	209	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTCACCCCACGAGTGGTGTC	0.408										TCGA Ovarian(4;0.039)			25	57					0	0	0	0	T	92085904	C	T	92085904	3	4	408	1	0	0	0	0	1	0	0	0	5736	536	19	1	628	1	FAT3	11	92085904	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4052143	92085904	42920612	2334	80152											
MTNR1B	4544	broad.mit.edu	37	chr11	92714938	92714938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggggtccctggagtaCgacccacgcatctattcctg	6	12	11	12	2	1	0	0	0	1	0	3	2	3	1	3	3	1	2	3	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:92714938C>T	ENST00000257068.2	+	2	555	c.549C>T	c.(547-549)taC>taT	p.Y183Y		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	183					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.Y183Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCCTGGAGTACGACCCACGCA	0.607													15	58					0	0	0	0	T	92714938	C	T	92714938	2	4	408	1	0	0	0	0	0	0	0	1	10022	547	19	1		1	MTNR1B	11	92714938	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	629034	92714938	42291578	2335	80153											
CCDC67	159989	broad.mit.edu	37	chr11	93088587	93088587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatggaacaaattgacaTcatggtaagcaacaagaaaa	21	8	7	5	0	1	2	1	1	0	1	1	3	1	3	0	2	3	2	0	2	8	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:93088587T>C	ENST00000298050.3	+	3	180	c.80T>C	c.(79-81)aTc>aCc	p.I27T	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Missense_Mutation_p.I27T	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	27										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CAAATTGACATCATGGTAAGC	0.388													5	108					0	0	0	0	C	93088587	T	C	93088587	3	2	408	1	0	0	0	0	1	0	0	0	2866	1435	50	5	86	5	CCDC67	11	93088587	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	373649	93088587	41917929	2336	80154											
C11orf54	28970	broad.mit.edu	37	chr11	93486913	93486914	+	Frame_Shift_Ins	INS	-	-	A																															cttattgcctcttgtaaaccINSaaaaaaaagtaagtactttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:93486913_93486914insA	ENST00000528288.1	+	4	455_456	c.220_221insA	c.(220-222)aaafs	p.K74fs	C11orf54_ENST00000331239.4_Frame_Shift_Ins_p.K74fs|C11orf54_ENST00000528099.1_Frame_Shift_Ins_p.K74fs|C11orf54_ENST00000354421.3_Frame_Shift_Ins_p.K74fs|C11orf54_ENST00000540113.1_Frame_Shift_Ins_p.K55fs	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	74						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTGTAAACCAAAAAAAAGTA	0.356													10	48	---	---	---	---					A	93486914	-	A	93486913	7	5	408	1	0	1	1	0	0	0	0	0	1660	595	21	0	230	0	C11orf54	11	93486913	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	398326	93486913	41519603	2337	80155											
MRE11A	4361	broad.mit.edu	37	chr11	94179035	94179035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttgagttcctgctacggGtagaagtctccagaccagtg	8	12	11	10	1	2	3	0	1	2	2	4	3	3	3	3	1	2	3	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:94179035G>A	ENST00000323929.3	-	16	2030	c.1808C>T	c.(1807-1809)aCc>aTc	p.T603I	MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Missense_Mutation_p.T606I|MRE11A_ENST00000393241.4_Missense_Mutation_p.T602I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	603					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CCTGCTACGGGTAGAAGTCTC	0.363								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				6	124					0	0	0	0	A	94179035	G	A	94179035	3	1	408	1	0	0	0	0	1	0	0	0	9829	1261	44	4	338	4	MRE11A	11	94179035	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	692122	94179035	40827481	2338	80156											
MRE11A	4361	broad.mit.edu	37	chr11	94224061	94224061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtatcatttcctctgaCtgcatctttctccataaatc	11	15	3	12	1	4	1	1	1	3	0	7	1	5	1	2	0	2	2	2	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:94224061C>T	ENST00000323929.3	-	3	313	c.91G>A	c.(91-93)Gtc>Atc	p.V31I	MRE11A_ENST00000540013.1_Missense_Mutation_p.V31I|MRE11A_ENST00000323977.3_Missense_Mutation_p.V31I|MRE11A_ENST00000407439.3_Missense_Mutation_p.V34I|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000393241.4_Missense_Mutation_p.V31I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	31				V -> A (in Ref. 1; AAC78721).	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTTCCTCTGACTGCATCTTTC	0.313								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				19	54					0	0	0	0	T	94224061	C	T	94224061	3	4	408	1	0	0	0	0	1	0	0	0	9829	565	20	4	2107	4	MRE11A	11	94224061	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	45026	94224061	40782455	2339	80157											
CEP57	9702	broad.mit.edu	37	chr11	95546694	95546694	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattagaaaaacaattggaaTacatgcgaaatatgataaag	21	10	7	3	1	0	2	0	1	0	1	0	4	0	3	0	1	3	0	0	1	11	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:95546694T>C	ENST00000325542.5	+	4	683	c.445T>C	c.(445-447)Tac>Cac	p.Y149H	CEP57_ENST00000541150.1_Missense_Mutation_p.Y140H|CEP57_ENST00000537677.1_Missense_Mutation_p.Y122H|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000538658.1_Missense_Mutation_p.Y149H|CEP57_ENST00000325486.5_Missense_Mutation_p.Y149H	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	149	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAATTGGAATACATGCGAAA	0.338									Mosaic Variegated Aneuploidy Syndrome				10	41					0	0	0	0	C	95546694	T	C	95546694	3	2	408	1	0	0	0	0	1	0	0	0	3285	1406	49	5	459	5	CEP57	11	95546694	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1322633	95546694	39459822	2340	80158											
MAML2	84441	broad.mit.edu	37	chr11	95718778	95718778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggccttgacaaatgtcggTttatctgatcttgtggagca	8	14	12	7	1	2	2	0	2	2	0	3	3	2	3	1	3	1	2	1	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:95718778T>C	ENST00000524717.1	-	4	3656	c.2372A>G	c.(2371-2373)aAc>aGc	p.N791S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	791					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAATGTCGGTTTATCTGATC	0.348			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								4	23					0	0	0	0	C	95718778	T	C	95718778	3	2	408	1	0	0	0	0	1	0	0	0	9275	1725	60	5	1106	5	MAML2	11	95718778	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	172084	95718778	39287738	2341	80159											
MAML2	84441	broad.mit.edu	37	chr11	95825905	95825905	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagctgctgggcatgggaTacttcctgccagcttggcaa	7	11	13	10	0	0	1	0	1	0	0	1	2	1	2	2	3	5	5	2	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:95825905T>A	ENST00000524717.1	-	2	2574	c.1290A>T	c.(1288-1290)gtA>gtT	p.V430V		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	430					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGGCATGGGATACTTCCTGCC	0.607			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								6	78					0	0	0	0	A	95825905	T	A	95825905	2	1	408	1	0	0	0	0	0	0	0	1	9275	1393	49	5		5	MAML2	11	95825905	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	107127	95825905	39180611	2342	80160											
CNTN5	53942	broad.mit.edu	37	chr11	100170002	100170002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacatcctctgaagctTccaaattcatttatcgagat	11	14	7	9	1	2	3	1	2	1	1	5	4	4	3	2	1	1	1	2	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:100170002T>C	ENST00000524871.1	+	20	2784	c.2494T>C	c.(2494-2496)Tcc>Ccc	p.S832P	CNTN5_ENST00000527185.1_Missense_Mutation_p.S832P|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S832P|CNTN5_ENST00000279463.3_Missense_Mutation_p.S832P|CNTN5_ENST00000418526.2_Missense_Mutation_p.S758P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	832	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCTGAAGCTTCCAAATTCAT	0.423													8	51					0	0	0	0	C	100170002	T	C	100170002	3	2	408	1	0	0	0	0	1	0	0	0	3674	1783	62	5	2564	5	CNTN5	11	100170002	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4344097	100170002	34836514	2343	80161											
YAP1	10413	broad.mit.edu	37	chr11	102094469	102094469	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgaccaatagctcagaTcctttccttaacaggttggt	11	12	8	10	1	1	2	1	1	0	1	3	3	3	2	3	2	2	2	3	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:102094469T>A	ENST00000282441.5	+	7	1537	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	YAP1_ENST00000531439.1_Missense_Mutation_p.D367E|YAP1_ENST00000524575.1_Missense_Mutation_p.D205E|YAP1_ENST00000537274.1_Missense_Mutation_p.D371E|YAP1_ENST00000345877.2_Missense_Mutation_p.D333E|YAP1_ENST00000526343.1_Missense_Mutation_p.D329E	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	383	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		ATAGCTCAGATCCTTTCCTTA	0.433													26	62					0	0	0	0	A	102094469	T	A	102094469	3	1	408	1	0	0	0	0	1	0	0	0	17562	1432	50	5	1187	5	YAP1	11	102094469	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1924467	102094469	32912047	2344	80162											
MMP1	4312	broad.mit.edu	37	chr11	102661201	102661201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagtcaaaattctcttcGttttaggatcaaatttgtat	12	16	8	5	1	3	1	2	0	1	1	5	3	3	2	0	2	0	2	0	2	5	6	rs146623880		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:102661201G>A	ENST00000315274.6	-	10	1419	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	451	Hemopexin-like 4.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AATTCTCTTCGTTTTAGGATC	0.318													6	24					0	0	0	0	A	102661201	G	A	102661201	3	1	408	1	0	0	0	0	1	0	0	0	9717	1145	40	1	61	1	MMP1	11	102661201	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	566732	102661201	32345315	2345	80163											
DYNC2H1	79659	broad.mit.edu	37	chr11	103060455	103060455	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatatttggaaccagtTctacataaaaatctgaagaa	17	10	8	6	0	2	2	0	1	2	1	2	4	2	4	1	2	3	2	1	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:103060455T>C	ENST00000375735.2	+	45	7491	c.7347T>C	c.(7345-7347)gtT>gtC	p.V2449V	DYNC2H1_ENST00000398093.3_Silent_p.V2449V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2449	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGAACCAGTTCTACATAAAA	0.318													5	102					0	0	0	0	C	103060455	T	C	103060455	2	2	408	1	0	0	0	0	0	0	0	1	4882	1770	62	5		5	DYNC2H1	11	103060455	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	399254	103060455	31946061	2346	80164											
CUL5	8065	broad.mit.edu	37	chr11	107965658	107965658	+	Frame_Shift_Del	DEL	A	A	-																															cggaagtagaagaattctacAaaaaaaatcatagtggtaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:107965658delA	ENST00000393094.2	+	15	2303	c.1687delA	c.(1687-1689)aafs	p.K564fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	564					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGAATTCTACAAAAAAAATCA	0.373													17	49	---	---	---	---					-	107965658	A	-	107965658	7	5	408	1	0	1	0	1	0	0	0	0	4091	131	5	0	1745	0	CUL5	11	107965658	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	4905203	107965658	27040858	2347	80165											
NPAT	4863	broad.mit.edu	37	chr11	108031919	108031919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacttttgatgtactactGtcttcactgaaacgcctact	10	16	5	10	1	2	2	1	2	1	0	2	2	2	2	1	0	5	1	1	0	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108031919G>A	ENST00000278612.8	-	17	3999	c.3894C>T	c.(3892-3894)gaC>gaT	p.D1298D		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1298					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATGTACTACTGTCTTCACTGA	0.498													25	99					0	0	0	0	A	108031919	G	A	108031919	2	1	408	1	0	0	0	0	0	0	0	1	10636	1368	48	4		4	NPAT	11	108031919	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	66261	108031919	26974597	2348	80166											
NPAT	4863	broad.mit.edu	37	chr11	108032395	108032395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgagtttctcttatggTggtatgccggctaatggcac	7	15	12	7	1	1	2	0	2	1	0	2	2	1	2	1	4	1	4	1	4	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108032395T>C	ENST00000278612.8	-	17	3523	c.3418A>G	c.(3418-3420)Acc>Gcc	p.T1140A		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1140					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTCTTATGGTGGTATGCCGG	0.373													8	95					0	0	0	0	C	108032395	T	C	108032395	3	2	408	1	0	0	0	0	1	0	0	0	10636	1696	59	5	873	5	NPAT	11	108032395	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	476	108032395	26974121	2349	80167											
ATM	472	broad.mit.edu	37	chr11	108225545	108225545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttgactctagatgctgtGagaaaaccatggaagtgatg	12	12	12	5	0	1	4	0	3	1	2	1	6	1	5	1	1	2	2	1	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108225545G>A	ENST00000278616.4	+	61	9179	c.8794G>A	c.(8794-8796)Gag>Aag	p.E2932K	ATM_ENST00000452508.2_Missense_Mutation_p.E2932K|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2932	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAGATGCTGTGAGAAAACCAT	0.343			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			46	125					0	0	0	0	A	108225545	G	A	108225545	3	1	408	1	0	0	0	0	1	0	0	0	1113	1291	45	2	9032	2	ATM	11	108225545	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	193150	108225545	26780971	2350	80168											
EXPH5	23086	broad.mit.edu	37	chr11	108381121	108381121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggtgattctgagacgtTtttaaactcattctgatgtc	9	17	9	6	1	3	4	1	4	2	1	4	5	3	4	0	1	1	1	0	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108381121T>C	ENST00000265843.4	-	6	5223	c.5113A>G	c.(5113-5115)Aac>Gac	p.N1705D	EXPH5_ENST00000525344.1_Missense_Mutation_p.N1698D|EXPH5_ENST00000443411.1_Missense_Mutation_p.N1517D|EXPH5_ENST00000428840.1_Missense_Mutation_p.N1629D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1705					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTGAGACGTTTTTAAACTCA	0.433													20	183					0	0	0	0	C	108381121	T	C	108381121	3	2	408	1	0	0	0	0	1	0	0	0	5360	1841	64	5	860	5	EXPH5	11	108381121	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	155576	108381121	26625395	2351	80169											
DDX10	1662	broad.mit.edu	37	chr11	108562670	108562670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatccttgcactccatggtcGacagcagcaaatgagaagaa	14	8	9	10	1	0	2	0	1	0	2	3	4	2	2	2	1	3	3	2	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108562670G>A	ENST00000526794.1	+	8	1075	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	DDX10_ENST00000322536.3_Missense_Mutation_p.R348Q			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	348	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CTCCATGGTCGACAGCAGCAA	0.468			T	NUP98	AML*								37	90					0	0	0	0	A	108562670	G	A	108562670	3	1	408	1	0	0	0	0	1	0	0	0	4374	1058	37	1	1073	1	DDX10	11	108562670	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	181549	108562670	26443846	2352	80170											
DDX10	1662	broad.mit.edu	37	chr11	108593750	108593750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttgctgtggcaccacGcgtaagatttcttcagaaaa	10	12	10	9	2	3	2	1	0	2	2	3	2	3	2	1	2	1	3	1	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108593750G>A	ENST00000526794.1	+	13	1558	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	DDX10_ENST00000322536.3_Missense_Mutation_p.R509H			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	509							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GTGGCACCACGCGTAAGATTT	0.423			T	NUP98	AML*								13	38					0	0	0	0	A	108593750	G	A	108593750	3	1	408	1	0	0	0	0	1	0	0	0	4374	1087	38	1	1576	1	DDX10	11	108593750	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	31080	108593750	26412766	2353	80171											
ZC3H12C	85463	broad.mit.edu	37	chr11	110023726	110023726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaggccacaaagacattAcagtttttgttcctgcttgg	12	12	9	8	0	0	2	0	0	0	2	1	2	1	2	2	2	2	3	2	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:110023726A>G	ENST00000453089.2	+	2	1644	c.763A>G	c.(763-765)Aca>Gca	p.T255A	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T287A|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.T286A			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	286							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAAAGACATTACAGTTTTTGT	0.428													9	27					0	0	0	0	G	110023726	A	G	110023726	3	3	408	1	0	0	0	0	1	0	0	0	17658	391	14	5	866	5	ZC3H12C	11	110023726	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1429976	110023726	24982790	2354	80172											
SIK2	23235	broad.mit.edu	37	chr11	111583056	111583056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatctggctgtcaggCggaagctgcattcatggaag	9	9	13	10	1	3	0	2	0	1	0	4	2	4	2	1	4	3	4	1	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:111583056C>T	ENST00000304987.3	+	9	1396	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	408					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GGCTGTCAGGCGGAAGCTGCA	0.532													10	59					0	0	0	0	T	111583056	C	T	111583056	3	4	408	1	0	0	0	0	1	0	0	0	14406	768	27	1	1257	1	SIK2	11	111583056	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1559330	111583056	23423460	2355	80173											
SIK2	23235	broad.mit.edu	37	chr11	111594826	111594826	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagacgctgtggatccacaAcacaacgggtatgtcctggt	10	9	11	11	2	0	1	0	0	0	1	2	2	2	2	2	3	2	2	2	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:111594826A>G	ENST00000304987.3	+	15	2927	c.2754A>G	c.(2752-2754)caA>caG	p.Q918Q		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	918					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TGGATCCACAACACAACGGGT	0.498													19	55					0	0	0	0	G	111594826	A	G	111594826	2	3	408	1	0	0	0	0	0	0	0	1	14406	40	2	5		5	SIK2	11	111594826	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	11770	111594826	23411690	2356	80174											
ALG9	79796	broad.mit.edu	37	chr11	111731283	111731283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttacctgatgatgagcaAaacatgccagtgctgagaac	14	9	9	9	0	0	4	0	4	0	1	0	5	0	4	2	0	7	2	2	0	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:111731283A>G	ENST00000398006.2	-	5	947	c.39T>C	c.(37-39)ttT>ttC	p.F13F	ALG9_ENST00000531154.1_Silent_p.F13F|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	184					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		ATGATGAGCAAAACATGCCAG	0.463													15	36					0	0	0	0	G	111731283	A	G	111731283	2	3	408	1	0	0	0	0	0	0	0	1	524	11	1	5		5	ALG9	11	111731283	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	136457	111731283	23275233	2357	80175											
DLAT	1737	broad.mit.edu	37	chr11	111899652	111899652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaggctcctggtagctcaTatccccctcacatgcaggtg	7	10	9	15	0	3	0	3	0	0	0	5	0	5	0	3	3	2	4	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:111899652T>C	ENST00000280346.6	+	4	1302	c.643T>C	c.(643-645)Tat>Cat	p.Y215H	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.Y215H	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	215					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TGGTAGCTCATATCCCCCTCA	0.527													27	95					0	0	0	0	C	111899652	T	C	111899652	3	2	408	1	0	0	0	0	1	0	0	0	4586	1406	49	5	657	5	DLAT	11	111899652	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	168369	111899652	23106864	2358	80176											
DRD2	1813	broad.mit.edu	37	chr11	113288779	113288779	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcacacaagttcaggAtgctcgccgtgcacatcatg	10	9	11	11	2	2	1	2	1	0	0	3	2	2	2	1	2	2	4	1	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:113288779A>T	ENST00000362072.3	-	3	709	c.365T>A	c.(364-366)aTc>aAc	p.I122N	DRD2_ENST00000538967.1_Missense_Mutation_p.I122N|DRD2_ENST00000544518.1_Missense_Mutation_p.I121N|DRD2_ENST00000355319.2_Missense_Mutation_p.I122N|DRD2_ENST00000542968.1_Missense_Mutation_p.I122N|DRD2_ENST00000346454.3_Missense_Mutation_p.I122N|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	122					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAAGTTCAGGATGCTCGCCGT	0.532													16	61					0	0	0	0	T	113288779	A	T	113288779	3	4	408	1	0	0	0	0	1	0	0	0	4793	333	12	5	990	5	DRD2	11	113288779	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1389127	113288779	21717737	2359	80177											
CLDN25	644672	broad.mit.edu	37	chr11	113650823	113650823	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctgcagctttgggtcTgaatgcttccagtttcacag	6	15	10	10	0	3	1	1	1	2	0	4	1	4	1	1	1	4	5	1	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:113650823T>A	ENST00000453129.2	+	1	355	c.306T>A	c.(304-306)tcT>tcA	p.S102S		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	102						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GCTTTGGGTCTGAATGCTTCC	0.572													8	382					0	0	0	0	A	113650823	T	A	113650823	2	1	408	1	0	0	0	0	0	0	0	1	3515	1567	55	5		5	CLDN25	11	113650823	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	362044	113650823	21355693	2360	80178											
USP28	57646	broad.mit.edu	37	chr11	113673937	113673937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttgaccccccggcggggCcccttcatcagcagggcagc	5	7	12	17	2	3	1	2	1	1	0	3	1	3	1	5	4	2	2	5	4	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:113673937C>T	ENST00000003302.4	-	23	2873	c.2805G>A	c.(2803-2805)ggG>ggA	p.G935G	USP28_ENST00000544967.1_Silent_p.G611G|USP28_ENST00000545540.1_Silent_p.G778G|USP28_ENST00000260188.5_Silent_p.G903G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	935					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCCGGCGGGGCCCCTTCATCA	0.458													7	144					0	0	0	0	T	113673937	C	T	113673937	2	4	408	1	0	0	0	0	0	0	0	1	17154	726	26	4		4	USP28	11	113673937	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	23114	113673937	21332579	2361	80179											
HTR3A	3359	broad.mit.edu	37	chr11	113856847	113856847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggtgctgccctactttCgggagttcagcatggaaagc	7	10	15	9	1	1	0	1	0	0	0	2	2	1	2	1	4	5	3	1	4	2	3	rs139246177		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:113856847C>T	ENST00000504030.2	+	6	1100	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	HTR3A_ENST00000375498.2_Missense_Mutation_p.R225W|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R204W|HTR3A_ENST00000355556.2_Missense_Mutation_p.R225W|HTR3A_ENST00000506841.2_Missense_Mutation_p.R219W			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	219					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R219W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCCCTACTTTCGGGAGTTCAG	0.478													67	222					0	0	0	0	T	113856847	C	T	113856847	3	4	408	1	0	0	0	0	1	0	0	0	7497	875	31	1	721	1	HTR3A	11	113856847	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	182910	113856847	21149669	2362	80180											
CADM1	23705	broad.mit.edu	37	chr11	115102132	115102132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctggcttgctggccataGcagtgcagttgacttcaatc	7	12	12	10	0	1	1	1	1	0	0	2	1	1	1	1	3	3	6	1	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:115102132G>A	ENST00000542447.2	-	4	631	c.503C>T	c.(502-504)gCt>gTt	p.A168V	CADM1_ENST00000331581.6_Missense_Mutation_p.A168V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.A168V|CADM1_ENST00000536727.1_Missense_Mutation_p.A168V|CADM1_ENST00000452722.2_Missense_Mutation_p.A168V	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	168	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTGGCCATAGCAGTGCAGTT	0.463													30	76					0	0	0	0	A	115102132	G	A	115102132	3	1	408	1	0	0	0	0	1	0	0	0	2591	971	34	4	853	4	CADM1	11	115102132	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1245285	115102132	19904384	2363	80181											
BUD13	84811	broad.mit.edu	37	chr11	116627929	116627929	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaggtgctggaccacTgtagcgaggtctcactaatg	9	8	16	8	1	1	0	1	0	1	0	2	4	1	3	1	5	2	2	1	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:116627929T>C	ENST00000260210.4	-	9	1722	c.1699A>G	c.(1699-1701)Agt>Ggt	p.S567G	BUD13_ENST00000375445.3_Missense_Mutation_p.S433G	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	567										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GCTGGACCACTGTAGCGAGGT	0.423													12	31					0	0	0	0	C	116627929	T	C	116627929	3	2	408	1	0	0	0	0	1	0	0	0	1582	1580	55	5	168	5	BUD13	11	116627929	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1525797	116627929	18378587	2364	80182											
SIK3	23387	broad.mit.edu	37	chr11	116719879	116719879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgtgtggtgtctctggaggGcccggggcctgtggtgctca	2	11	18	10	2	2	0	1	0	1	0	4	1	2	1	2	6	1	1	2	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:116719879G>A	ENST00000375300.1	-	21	3637	c.3632C>T	c.(3631-3633)gCc>gTc	p.A1211V	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Missense_Mutation_p.A1093V|SIK3_ENST00000434315.2_Missense_Mutation_p.A992V|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.A1151V|SIK3_ENST00000375288.1_Missense_Mutation_p.A488V|SIK3_ENST00000292055.4_Missense_Mutation_p.A1153V			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1153						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTCTGGAGGGCCCGGGGCCT	0.597													44	97					0	0	0	0	A	116719879	G	A	116719879	3	1	408	1	0	0	0	0	1	0	0	0	14407	1203	42	4	345	4	SIK3	11	116719879	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	91950	116719879	18286637	2365	80183											
SIK3	23387	broad.mit.edu	37	chr11	116767008	116767008	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcggaactttccactcaGcacgcgggcccgcagattct	8	8	11	14	4	2	1	1	0	1	1	3	3	3	2	2	2	3	2	2	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:116767008G>T	ENST00000375288.1	-	0	687				SIK3_ENST00000542607.1_Missense_Mutation_p.L218M|SIK3_ENST00000434315.2_Missense_Mutation_p.L117M|SIK3_ENST00000446921.2_Missense_Mutation_p.L276M|SIK3_ENST00000375300.1_Missense_Mutation_p.L276M|SIK3_ENST00000292055.4_Missense_Mutation_p.L218M			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3							cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TTTCCACTCAGCACGCGGGCC	0.517													52	122					1.32667e-27	1.40583e-27	1	0	T	116767008	G	T	116767008	1	4	408	1	0	0	0	0	0	0	0	0	14407	962	34	4		4	SIK3	11	116767008	Translation_Start_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	47129	116767008	18239508	2366	80184											
CEP164	22897	broad.mit.edu	37	chr11	117222548	117222548	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactatttcaacttcgccaaCgggcagtctatgtgggacca	10	11	9	11	2	2	0	1	0	1	0	3	1	2	1	2	2	3	1	2	2	5	5	rs149281923		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478													26	102					0	0	0	0	T	117222548	C	T	117222548	2	4	408	1	0	0	0	0	0	0	0	1	3278	535	19	1		1	CEP164	11	117222548	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	455540	117222548	17783968	2367	80185											
CEP164	22897	broad.mit.edu	37	chr11	117280361	117280361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccccgagtctcacctcccGcaagatccacgggcttagcc	9	6	8	18	3	1	1	1	0	1	1	4	2	3	1	6	1	2	2	6	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:117280361G>A	ENST00000278935.3	+	30	3923	c.3776G>A	c.(3775-3777)cGc>cAc	p.R1259H	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1259					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTCACCTCCCGCAAGATCCAC	0.612													81	219					0	0	0	0	A	117280361	G	A	117280361	3	1	408	1	0	0	0	0	1	0	0	0	3278	1087	38	1	3886	1	CEP164	11	117280361	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	57813	117280361	17726155	2368	80186											
CEP164	22897	broad.mit.edu	37	chr11	117280429	117280429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagtgtcctcagcatcCtggacagcctcaaccctcag	9	8	9	15	0	3	1	3	1	0	0	5	2	5	2	4	1	4	2	4	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:117280429C>A	ENST00000278935.3	+	30	3991	c.3844C>A	c.(3844-3846)Ctg>Atg	p.L1282M	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1282					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCTCAGCATCCTGGACAGCCT	0.657													104	266					7.73176e-47	8.20465e-47	1	0	A	117280429	C	A	117280429	3	1	408	1	0	0	0	0	1	0	0	0	3278	680	24	4	3954	4	CEP164	11	117280429	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	68	117280429	17726087	2369	80187											
TMEM25	84866	broad.mit.edu	37	chr11	118404221	118404221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccctcgtggggttcagcAccttggtggcctgcctggtc	3	10	14	14	1	1	0	1	0	0	0	3	0	1	0	4	5	2	3	4	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118404221A>G	ENST00000313236.5	+	5	813	c.760A>G	c.(760-762)Acc>Gcc	p.T254A	TMEM25_ENST00000411589.2_Intron|TMEM25_ENST00000524725.1_Intron|TMEM25_ENST00000359862.4_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.T254A|TMEM25_ENST00000533102.1_Missense_Mutation_p.T254A|TMEM25_ENST00000544878.1_Missense_Mutation_p.T157A|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000529001.1_3'UTR	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	254						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGGGTTCAGCACCTTGGTGGC	0.607													24	62					0	0	0	0	G	118404221	A	G	118404221	3	3	408	1	0	0	0	0	1	0	0	0	16244	159	6	5	774	5	TMEM25	11	118404221	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1123792	118404221	16602295	2370	80188											
BCL9L	283149	broad.mit.edu	37	chr11	118773010	118773010	+	Frame_Shift_Del	DEL	C	C	-																															cttcatgctccagcggggggCcccctaggctctgtgtctgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118773010delC	ENST00000334801.3	-	6	2406	c.1442delG	c.(1441-1443)gcfs	p.G481fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	481	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAGCGGGGGGCCCCCTAGGCT	0.647													66	190	---	---	---	---					-	118773010	C	-	118773010	7	5	408	1	0	1	0	1	0	0	0	0	1386	739	26	0	3069	0	BCL9L	11	118773010	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	368789	118773010	16233506	2371	80189											
RPS25	6230	broad.mit.edu	37	chr11	118888739	118888739	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgactttccagcgtcctTcttcttcttgtcgtccttag	3	16	8	14	3	3	0	0	0	3	0	7	1	6	0	4	1	1	0	4	1	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118888739T>C	ENST00000527673.1	-	2	433	c.28A>G	c.(28-30)Aag>Gag	p.K10E	RPS25_ENST00000528547.1_5'UTR	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	10					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCAGCGTCCTTCTTCTTCTTG	0.532													47	104					0	0	0	0	C	118888739	T	C	118888739	3	2	408	1	0	0	0	0	1	0	0	0	13721	1792	62	5	361	5	RPS25	11	118888739	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	115729	118888739	16117777	2372	80190											
SLC37A4	2542	broad.mit.edu	37	chr11	118898461	118898461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccagatagggccagcGtgctgcgccagctgtagctc	6	7	14	14	2	0	1	0	0	0	1	1	1	0	1	4	1	6	4	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118898461G>A	ENST00000545985.1	-	5	1259	c.503C>T	c.(502-504)aCg>aTg	p.T168M	SLC37A4_ENST00000357590.5_Missense_Mutation_p.T168M|SLC37A4_ENST00000538950.1_Missense_Mutation_p.T95M|SLC37A4_ENST00000330775.7_Missense_Mutation_p.T168M|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	168					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TAGGGCCAGCGTGCTGCGCCA	0.607													13	34					0	0	0	0	A	118898461	G	A	118898461	3	1	408	1	0	0	0	0	1	0	0	0	14688	1145	40	1	881	1	SLC37A4	11	118898461	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9722	118898461	16108055	2373	80191											
HYOU1	10525	broad.mit.edu	37	chr11	118916308	118916308	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaacagaggtgggggttaTagttcgtcgttcttcaaagg	11	11	14	5	2	2	1	1	0	1	1	4	2	2	1	0	4	1	3	0	4	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118916308T>C	ENST00000404233.3	-	26	3121	c.2997A>G	c.(2995-2997)ctA>ctG	p.L999L	HYOU1_ENST00000525859.1_Silent_p.L937L|HYOU1_ENST00000529972.1_Silent_p.L937L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	999						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GTGGGGGTTATAGTTCGTCGT	0.522													7	182					0	0	0	0	C	118916308	T	C	118916308	2	2	408	1	0	0	0	0	0	0	0	1	7523	1393	49	5		5	HYOU1	11	118916308	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	17847	118916308	16090208	2374	80192											
CBL	867	broad.mit.edu	37	chr11	119149355	119149356	+	In_Frame_Ins	INS	-	-	ATG																															gggagctccctccccaaattINSatgatgatgatgatgatgaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:119149355_119149356insATG	ENST00000264033.4	+	9	1739_1740	c.1363_1364insATG	c.(1363-1365)tga>ATGtga	p.454_455insM		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	454	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTCCCCAAATTATGATGATGAT	0.475			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				23	86	---	---	---	---					ATG	119149356	-	ATG	119149355	7	5	408	1	0	1	1	0	0	0	0	0	2725	1754	61	0	1397	0	CBL	11	119149355	In_Frame_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	233047	119149355	15857161	2375	80193											
THY1	7070	broad.mit.edu	37	chr11	119290893	119290893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgttgtatttgctggTgaagttggttcgggagcggt	5	16	15	5	2	1	1	1	1	0	0	2	2	1	2	0	4	2	5	0	4	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:119290893T>C	ENST00000284240.5	-	3	1280	c.241A>G	c.(241-243)Acc>Gcc	p.T81A	USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.T64A|THY1_ENST00000527590.1_5'UTR|THY1_ENST00000528522.1_Missense_Mutation_p.T81A|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	81	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		TATTTGCTGGTGAAGTTGGTT	0.557													37	120					0	0	0	0	C	119290893	T	C	119290893	3	2	408	1	0	0	0	0	1	0	0	0	15979	1696	59	5	252	5	THY1	11	119290893	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	141538	119290893	15715623	2376	80194											
PVRL1	5818	broad.mit.edu	37	chr11	119535589	119535589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccgtcctgacgggcctcGgcctcatccacggtgaagta	7	8	12	14	4	1	2	1	2	0	0	4	2	3	2	5	3	1	1	5	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:119535589G>A	ENST00000264025.3	-	6	1952	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	474					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.A474A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GACGGGCCTCGGCCTCATCCA	0.657													13	31					0	0	0	0	A	119535589	G	A	119535589	2	1	408	1	0	0	0	0	0	0	0	1	12921	1103	39	1		1	PVRL1	11	119535589	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	244696	119535589	15470927	2377	80195											
POU2F3	25833	broad.mit.edu	37	chr11	120176426	120176426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatctcacgatttgaggCcctcaacctgagcttcaaga	11	9	7	14	1	3	3	3	2	1	1	4	4	3	3	3	1	2	1	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:120176426C>T	ENST00000260264.4	+	8	741	c.707C>T	c.(706-708)gCc>gTc	p.A236V	POU2F3_ENST00000543440.2_Missense_Mutation_p.A234V	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	234	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CGATTTGAGGCCCTCAACCTG	0.587													8	139					0	0	0	0	T	120176426	C	T	120176426	3	4	408	1	0	0	0	0	1	0	0	0	12344	739	26	4	731	4	POU2F3	11	120176426	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	640837	120176426	14830090	2378	80196											
TMEM136	219902	broad.mit.edu	37	chr11	120201091	120201091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggggagtagcgatgtatgCtgtgtcttggtgtttcatgt	5	16	16	4	1	2	0	1	0	1	0	2	2	2	1	0	3	2	4	0	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:120201091C>A	ENST00000375095.2	+	3	846	c.605C>A	c.(604-606)gCt>gAt	p.A202D	TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000529187.1_Intron|TMEM136_ENST00000314475.2_Missense_Mutation_p.A224D	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	202	TLC.					integral to membrane				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GCGATGTATGCTGTGTCTTGG	0.527													4	57					0.00909568	0.00915862	1	0	A	120201091	C	A	120201091	3	1	408	1	0	0	0	0	1	0	0	0	16146	812	28	4		4	TMEM136	11	120201091	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	24665	120201091	14805425	2379	80197											
ARHGEF12	23365	broad.mit.edu	37	chr11	120300189	120300189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccagaaagtagaaattcTgagaaaaatgttacagaaag	21	8	8	4	0	1	4	0	1	1	4	1	5	1	4	1	0	2	2	1	0	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:120300189T>C	ENST00000397843.2	+	9	792	c.626T>C	c.(625-627)cTg>cCg	p.L209P	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L190P|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L106P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	209					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GTAGAAATTCTGAGAAAAATG	0.343			T	MLL	AML								20	62					0	0	0	0	C	120300189	T	C	120300189	3	2	408	1	0	0	0	0	1	0	0	0	899	1580	55	5	660	5	ARHGEF12	11	120300189	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	99098	120300189	14706327	2380	80198											
HSPA8	3312	broad.mit.edu	37	chr11	122928453	122928453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggttggcttaatcaacctCttcaatggtgggccctgagg	7	13	12	9	0	3	1	2	1	1	0	3	1	3	1	2	5	1	2	2	5	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:122928453C>G	ENST00000534624.1	-	9	2206	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q	HSPA8_ENST00000532636.1_Missense_Mutation_p.E644Q|HSPA8_ENST00000453788.2_Missense_Mutation_p.E491Q|HSPA8_ENST00000227378.3_Missense_Mutation_p.E644Q|HSPA8_ENST00000526110.1_Missense_Mutation_p.E625Q|HSPA8_ENST00000534319.1_Missense_Mutation_p.E408Q|HSPA8_ENST00000533540.1_Missense_Mutation_p.E498Q	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	644					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAATCAACCTCTTCAATGGTG	0.483													21	88					0	0	0	0	G	122928453	C	G	122928453	3	3	408	1	0	0	0	0	1	0	0	0	7468	922	32	2	14	2	HSPA8	11	122928453	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2628264	122928453	12078063	2381	80199											
GRAMD1B	57476	broad.mit.edu	37	chr11	123484353	123484353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggatgtgggccacaggatCaaacatgtggcaggtgtgtg	10	8	17	6	0	1	0	1	0	0	0	1	3	1	2	1	5	1	1	1	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:123484353C>T	ENST00000529750.1	+	15	2112	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	GRAMD1B_ENST00000322282.7_Silent_p.I595I|GRAMD1B_ENST00000456860.2_Silent_p.I602I|GRAMD1B_ENST00000450171.2_Silent_p.I286I	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	595						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCACAGGATCAAACATGTGG	0.612													4	39					0	0	0	0	T	123484353	C	T	123484353	2	4	408	1	0	0	0	0	0	0	0	1	6798	816	29	2		2	GRAMD1B	11	123484353	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	555900	123484353	11522163	2382	80200											
ZNF202	7753	broad.mit.edu	37	chr11	123601221	123601221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtctcctgggttgttTctgcaaaccctccaccagcg	5	12	9	15	1	2	0	0	0	2	0	4	0	3	0	5	2	3	3	5	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:123601221T>C	ENST00000336139.4	-	3	738	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	ZNF202_ENST00000529691.1_Missense_Mutation_p.K126E|ZNF202_ENST00000530393.1_Missense_Mutation_p.K126E			O95125	ZN202_HUMAN	zinc finger protein 202	126	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGGGTTGTTTCTGCAAACCC	0.587													14	188					0	0	0	0	C	123601221	T	C	123601221	3	2	408	1	0	0	0	0	1	0	0	0	17858	1792	62	5	1594	5	ZNF202	11	123601221	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	116868	123601221	11405295	2383	80201											
OR6T1	219874	broad.mit.edu	37	chr11	123814022	123814022	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcacgaaagaagtggTcaataccattggggccacag	14	7	11	9	1	2	1	2	0	0	1	2	2	2	1	2	3	2	0	2	3	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:123814022T>C	ENST00000321252.2	-	1	558	c.524A>G	c.(523-525)gAc>gGc	p.D175G		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAAGAAGTGGTCAATACCATT	0.557													25	71					0	0	0	0	C	123814022	T	C	123814022	3	2	408	1	0	0	0	0	1	0	0	0	11281	1667	58	5	450	5	OR6T1	11	123814022	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	212801	123814022	11192494	2384	80202											
OR8B2	26595	broad.mit.edu	37	chr11	124253109	124253109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccgaaaagagtgatcaagCcaaggttgcctaccatggtg	13	7	12	9	1	1	2	1	1	0	1	1	4	1	2	4	2	3	1	4	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:124253109C>T	ENST00000375013.2	-	1	149	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGTGATCAAGCCAAGGTTGCC	0.418													54	162					0	0	0	0	T	124253109	C	T	124253109	3	4	408	1	0	0	0	0	1	0	0	0	11298	739	26	4	813	4	OR8B2	11	124253109	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	439087	124253109	10753407	2385	80203											
OR8B3	390271	broad.mit.edu	37	chr11	124266967	124266967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgagtcatgcacccaacaTaggagataatattctttttt	12	14	7	8	0	2	2	1	1	1	1	2	3	2	2	1	1	2	2	1	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:124266967T>C	ENST00000354597.3	-	1	297	c.281A>G	c.(280-282)tAt>tGt	p.Y94C		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCACCCAACATAGGAGATAAT	0.368													28	63					0	0	0	0	C	124266967	T	C	124266967	3	2	408	1	0	0	0	0	1	0	0	0	11299	1406	49	5	662	5	OR8B3	11	124266967	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	13858	124266967	10739549	2386	80204											
PATE1	160065	broad.mit.edu	37	chr11	125617283	125617283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtacagtcaatgaaatagTtgctgtgaaaaacaattttc	16	12	7	6	0	1	2	1	2	0	0	2	2	1	2	0	0	3	3	0	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:125617283T>C	ENST00000305738.5	+	3	113	c.101T>C	c.(100-102)gTt>gCt	p.V34A	PATE1_ENST00000437148.2_Intron	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	34						extracellular region				large_intestine(1)|lung(5)	6						AATGAAATAGTTGCTGTGAAA	0.393													52	195					0	0	0	0	C	125617283	T	C	125617283	3	2	408	1	0	0	0	0	1	0	0	0	11544	1725	60	5	111	5	PATE1	11	125617283	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1350316	125617283	9389233	2387	80205											
CDON	50937	broad.mit.edu	37	chr11	125853841	125853841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagaatgaggaccatgacgCccagcacacagccaacgatc	14	4	9	14	2	1	3	1	2	0	1	2	5	1	4	3	1	3	1	3	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:125853841C>T	ENST00000392693.3	-	16	3048	c.2921G>A	c.(2920-2922)gGc>gAc	p.G974D	CDON_ENST00000263577.7_Missense_Mutation_p.G974D|CDON_ENST00000531738.1_Missense_Mutation_p.G351D	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	974					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GACCATGACGCCCAGCACACA	0.478													14	47					0	0	0	0	T	125853841	C	T	125853841	3	4	408	1	0	0	0	0	1	0	0	0	3199	739	26	4	893	4	CDON	11	125853841	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	236558	125853841	9152675	2388	80206											
ARHGAP32	9743	broad.mit.edu	37	chr11	128838881	128838881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgacccaacgctgtaGcataggtcctgctctgtgga	7	10	10	14	1	1	1	0	1	1	0	2	2	2	2	4	2	3	4	4	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:128838881G>A	ENST00000310343.9	-	22	6184	c.6185C>T	c.(6184-6186)gCt>gTt	p.A2062V	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.A1713V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.A1713V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2062	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAACGCTGTAGCATAGGTCCT	0.592													3	24					0	0	0	0	A	128838881	G	A	128838881	3	1	408	1	0	0	0	0	1	0	0	0	883	971	34	4	82	4	ARHGAP32	11	128838881	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2985040	128838881	6167635	2389	80207											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839216	128839216	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctgcctaacccagggTcgctccatctctttggagag	8	9	12	12	1	1	1	0	0	1	1	4	3	2	1	3	3	2	2	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:128839216T>C	ENST00000310343.9	-	22	5849	c.5850A>G	c.(5848-5850)cgA>cgG	p.R1950R	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.R1601R|ARHGAP32_ENST00000392657.3_Silent_p.R1601R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1950	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TAACCCAGGGTCGCTCCATCT	0.512													8	151					0	0	0	0	C	128839216	T	C	128839216	2	2	408	1	0	0	0	0	0	0	0	1	883	1654	58	5		5	ARHGAP32	11	128839216	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	335	128839216	6167300	2390	80208											
ARHGAP32	9743	broad.mit.edu	37	chr11	128848689	128848689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagccatggctttcatctCtgaaggctcactctcattcc	8	12	7	14	0	4	2	3	1	2	1	7	2	5	2	2	2	1	2	2	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:128848689C>G	ENST00000310343.9	-	18	2055	c.2056G>C	c.(2056-2058)Gag>Cag	p.E686Q	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E337Q|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E612Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E337Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	686					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GCTTTCATCTCTGAAGGCTCA	0.478													18	44					0	0	0	0	G	128848689	C	G	128848689	3	3	408	1	0	0	0	0	1	0	0	0	883	922	32	2	4227	2	ARHGAP32	11	128848689	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	9473	128848689	6157827	2391	80209											
NFRKB	4798	broad.mit.edu	37	chr11	129752378	129752378	+	Frame_Shift_Del	DEL	G	G	-																															gcaggaattgccagcggagaGggggcctgtgagagaggtgc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:129752378delG	ENST00000446488.3	-	9	1153	c.1050delC	c.(1048-1050)ccfs	p.P350fs	NFRKB_ENST00000524746.1_Frame_Shift_Del_p.P350fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.P350fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.P375fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	350					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCAGCGGAGAGGGGGCCTGTG	0.512													35	190	---	---	---	---					-	129752378	G	-	129752378	7	5	408	1	0	1	0	1	0	0	0	0	10454	987	35	0	2921	0	NFRKB	11	129752378	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	903689	129752378	5254138	2392	80210											
PRDM10	56980	broad.mit.edu	37	chr11	129787023	129787023	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaatatttcccttttaccTtatcgcaatactgacaaaag	14	14	4	9	1	0	2	0	2	0	0	2	2	1	2	2	0	2	1	2	0	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:129787023T>C	ENST00000358825.5	-	16	2567	c.2337_splice	c.e16+1	p.K779_splice	PRDM10_ENST00000528746.1_Splice_Site_p.K749_splice|PRDM10_ENST00000304538.6_Splice_Site_p.K689_splice|PRDM10_ENST00000423662.2_Splice_Site_p.K693_splice|PRDM10_ENST00000526082.1_Splice_Site_p.K693_splice|PRDM10_ENST00000360871.3_Splice_Site_p.K775_splice	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCCTTTTACCTTATCGCAATA	0.378													3	40					0	0	0	0	C	129787023	T	C	129787023	5	2	408	1	0	0	0	0	0	0	1	0	12531	1623	56	5	1174	5	PRDM10	11	129787023	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	34645	129787023	5219493	2393	80211											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343138	130343138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagggcagtctgctgcggTacagcggcacgggcacagcg	8	5	17	11	4	1	1	0	1	1	0	1	1	1	1	0	4	5	5	0	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:130343138T>C	ENST00000299164.2	+	8	2275	c.2275T>C	c.(2275-2277)Tac>Cac	p.Y759H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	759	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCTGCTGCGGTACAGCGGCAC	0.662													8	136					0	0	0	0	C	130343138	T	C	130343138	3	2	408	1	0	0	0	0	1	0	0	0	260	1638	57	5	2305	5	ADAMTS15	11	130343138	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	556115	130343138	4663378	2394	80212											
OPCML	4978	broad.mit.edu	37	chr11	132527055	132527055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtgtacggaccttcGtcatacacatccacattttg	10	11	9	11	2	1	0	1	0	0	0	3	2	2	1	2	2	3	2	2	2	2	5	rs144949245		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:132527055G>A	ENST00000331898.7	-	2	905	c.327C>T	c.(325-327)gaC>gaT	p.D109D	OPCML_ENST00000374778.4_Silent_p.D68D|OPCML_ENST00000541867.1_Silent_p.D109D|OPCML_ENST00000524381.1_Silent_p.D102D|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	109	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACGGACCTTCGTCATACACAT	0.507													25	64					0	0	0	0	A	132527055	G	A	132527055	2	1	408	1	0	0	0	0	0	0	0	1	10945	1136	40	1		1	OPCML	11	132527055	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2183917	132527055	2479461	2395	80213											
NCAPD3	23310	broad.mit.edu	37	chr11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-																															catgacagaacctctgacctGggggggtggctgagacgctg																								rs138442478		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:134048586delG	ENST00000534548.2	-	22	2789	c.2725delC	c.(2725-2727)agfs	p.Q909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTCTGACCTGGGGGGGTGGC	0.522													8	118	---	---	---	---					-	134048586	G	-	134048586	7	5	408	1	0	1	0	1	0	0	0	0	10276	1357	47	0	1827	0	NCAPD3	11	134048586	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	1521531	134048586	957930	2396	80214											
KDM5A	5927	broad.mit.edu	37	chr12	459895	459895	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaataacatcttcttcaatGctgcttaccagccgccaaaa	14	10	4	13	1	3	0	1	0	2	0	3	0	3	0	3	0	5	2	3	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:459895G>A	ENST00000399788.2	-	10	1562	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	KDM5A_ENST00000382815.4_Silent_p.S400S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	400					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCTTCAATGCTGCTTACCA	0.398			T	NUP98	AML								13	78					0	0	0	0	A	459895	G	A	459895	2	1	408	1	0	0	0	0	0	0	0	1	8185	1310	46	4		4	KDM5A	12	459895	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08		459895	133392000	2397	80215											
CCDC77	84318	broad.mit.edu	37	chr12	547673	547673	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagataaaattggaaaagtgTtgcccgttatgcatgagagt	15	11	11	4	1	0	2	0	1	0	2	0	4	0	3	1	1	2	3	1	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:547673T>C	ENST00000239830.4	+	10	1173	c.994T>C	c.(994-996)Ttg>Ctg	p.L332L	CCDC77_ENST00000540180.1_Silent_p.L300L|CCDC77_ENST00000412006.2_Silent_p.L300L|CCDC77_ENST00000422000.1_Silent_p.L300L	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	332						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGGAAAAGTGTTGCCCGTTAT	0.348													21	105					0	0	0	0	C	547673	T	C	547673	2	2	408	1	0	0	0	0	0	0	0	1	2878	1722	60	5		5	CCDC77	12	547673	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	87778	547673	133304222	2398	80216											
B4GALNT3	283358	broad.mit.edu	37	chr12	667687	667687	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggacccgcacagcaTcatcttcctctgtgacctcc	7	9	6	19	1	3	1	1	1	2	0	6	2	6	2	6	1	1	2	6	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:667687T>A	ENST00000266383.5	+	18	2634	c.2621T>A	c.(2620-2622)aTc>aAc	p.I874N		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	874						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCGCACAGCATCATCTTCCTC	0.592													50	230					0	0	0	0	A	667687	T	A	667687	3	1	408	1	0	0	0	0	1	0	0	0	1272	1435	50	5	2691	5	B4GALNT3	12	667687	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	120014	667687	133184208	2399	80217											
WNK1	65125	broad.mit.edu	37	chr12	994688	994688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatcctttggtcattcCatcagtgatagcttctactc	7	15	7	12	0	3	1	2	1	1	0	6	1	5	1	2	1	3	3	2	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:994688C>A	ENST00000537687.1	+	19	6141	c.5498C>A	c.(5497-5499)cCa>cAa	p.P1833Q	WNK1_ENST00000340908.4_Missense_Mutation_p.P1166Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1326Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2071Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P1573Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1573					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTGGTCATTCCATCAGTGATA	0.493													234	406					7.40589e-125	7.8644e-125	1	0	A	994688	C	A	994688	3	1	408	1	0	0	0	0	1	0	0	0	17473	594	21	4	6294	4	WNK1	12	994688	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	327001	994688	132857207	2400	80218											
WNT5B	81029	broad.mit.edu	37	chr12	1741947	1741947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaattgtaccaggagcaCatggcctacataggggaggg	11	7	14	9	0	0	0	0	0	0	0	0	2	0	2	3	5	4	2	3	5	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:1741947C>T	ENST00000397196.2	+	3	436	c.204C>T	c.(202-204)caC>caT	p.H68H	WNT5B_ENST00000542408.1_Silent_p.H68H|WNT5B_ENST00000310594.3_Silent_p.H68H|WNT5B_ENST00000537031.1_Silent_p.H68H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	68					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACCAGGAGCACATGGCCTACA	0.602													35	168					0	0	0	0	T	1741947	C	T	1741947	2	4	408	1	0	0	0	0	0	0	0	1	17488	477	17	4		4	WNT5B	12	1741947	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	747259	1741947	132109948	2401	80219											
CACNA2D4	93589	broad.mit.edu	37	chr12	2019090	2019090	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaccagggattcattgaaTtcgtggttcaggtcggcctc	8	11	11	11	2	2	1	2	1	0	0	5	2	2	2	3	4	0	1	3	4	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:2019090T>C	ENST00000382722.5	-	4	830	c.468A>G	c.(466-468)gaA>gaG	p.E156E	CACNA2D4_ENST00000585732.1_Silent_p.E156E|CACNA2D4_ENST00000587995.1_Silent_p.E156E|CACNA2D4_ENST00000588077.1_Silent_p.E92E|CACNA2D4_ENST00000586184.1_Silent_p.E156E|CACNA2D4_ENST00000585708.1_Silent_p.E92E	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	156						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			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)		ATTCATTGAATTCGTGGTTCA	0.587													5	37					0	0	0	0	C	2019090	T	C	2019090	2	2	408	1	0	0	0	0	0	0	0	1	2576	1490	52	5		5	CACNA2D4	12	2019090	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	277143	2019090	131832805	2402	80220											
CACNA1C	775	broad.mit.edu	37	chr12	2797785	2797785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgagaaactcaacagcaGcttcccatccatccactgcg	12	7	7	15	1	1	1	1	1	0	1	4	2	4	1	3	0	5	2	3	0	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:2797785G>A	ENST00000399655.1	+	46	6222	c.5957G>A	c.(5956-5958)aGc>aAc	p.S1986N	CACNA1C_ENST00000327702.7_Missense_Mutation_p.S2021N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S2034N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S2003N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S2005N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2057N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1992N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S2005N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2057N|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S2011N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S2014N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S2021N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S2005N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1994N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S2006N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1994N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S2027N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1986N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2069					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCAACAGCAGCTTCCCATCC	0.716													25	120					0	0	0	0	A	2797785	G	A	2797785	3	1	408	1	0	0	0	0	1	0	0	0	2565	971	34	4	6848	4	CACNA1C	12	2797785	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	778695	2797785	131054110	2403	80221											
ITFG2	55846	broad.mit.edu	37	chr12	2933264	2933264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggctctcagatcctgacGacctccctgtgactcgtgcc	5	11	9	16	2	1	3	1	2	1	1	5	4	3	3	4	1	1	1	4	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:2933264G>A	ENST00000228799.2	+	12	1388	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	ITFG2_ENST00000542548.1_Missense_Mutation_p.D305N|ITFG2_ENST00000419778.2_Missense_Mutation_p.D240N	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	417										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGATCCTGACGACCTCCCTGT	0.617													7	219					0	0	0	0	A	2933264	G	A	2933264	3	1	408	1	0	0	0	0	1	0	0	0	7923	1058	37	1	1295	1	ITFG2	12	2933264	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	135479	2933264	130918631	2404	80222											
FOXM1	2305	broad.mit.edu	37	chr12	2968215	2968215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctactttggctgggggCgtgagcctccaggattcagg	5	9	14	13	1	1	1	1	1	0	0	2	2	2	2	4	5	2	1	4	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:2968215C>T	ENST00000342628.2	-	10	2108	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FOXM1_ENST00000359843.3_Silent_p.T627T|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.T612T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	627					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCTGGGGGCGTGAGCCTCC	0.592													6	200					0	0	0	0	T	2968215	C	T	2968215	2	4	408	1	0	0	0	0	0	0	0	1	6065	755	27	1		1	FOXM1	12	2968215	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	34951	2968215	130883680	2405	80223											
PRMT8	56341	broad.mit.edu	37	chr12	3702332	3702332	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacatctgtatctaatgActacaaaatgcgttagcaca	16	11	6	8	1	2	2	0	2	2	0	2	2	2	2	0	0	4	3	0	0	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:3702332A>G	ENST00000382622.3	+	10	1559	c.1169A>G	c.(1168-1170)gAc>gGc	p.D390G	PRMT8_ENST00000452611.2_Missense_Mutation_p.D381G|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	390					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GTATCTAATGACTACAAAATG	0.502													20	24					0	0	0	0	G	3702332	A	G	3702332	3	3	408	1	0	0	0	0	1	0	0	0	12622	275	10	5	1207	5	PRMT8	12	3702332	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	734117	3702332	130149563	2406	80224											
CCND2	894	broad.mit.edu	37	chr12	4398026	4398026	+	Missense_Mutation	SNP	A	A	G																															agactttaagtttgccatgtAcccaccgtcgatgatcgcaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:4398026A>G	ENST00000261254.3	+	4	859	c.590A>G	c.(589-591)tAc>tGc	p.Y197C		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	197					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTTGCCATGTACCCACCGTCG	0.542			T	IGL@	"NHL,CLL"								50	201					0	0	0	0	G	4398026	A	G	4398026	3	3	408	1	0	0	0	0	1	0	0	0	2946	391	14	5	604	5	CCND2	12	4398026	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	695694	4398026	129453869	2407	80225	1043	2									
CCND2	894	broad.mit.edu	37	chr12	4398027	4398027	+	Nonsense_Mutation	SNP	C	C	G																															gactttaagtttgccatgtaCccaccgtcgatgatcgcaac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:4398027C>G	ENST00000261254.3	+	4	860	c.591C>G	c.(589-591)taC>taG	p.Y197*		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	197					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTGCCATGTACCCACCGTCGA	0.542			T	IGL@	"NHL,CLL"								49	201					0	0	0	0	G	4398027	C	G	4398027	4	3	408	1	0	0	0	0	0	1	0	0	2946	518	18	4	605	4	CCND2	12	4398027	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1	4398027	129453868	2408	80226	1043	2									
ANO2	57101	broad.mit.edu	37	chr12	6030501	6030501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgggcctccaaggacacaGgctcattggcatccagatag	11	6	12	12	1	1	1	1	0	0	1	3	3	3	2	3	4	0	2	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6030501G>T	ENST00000356134.5	-	3	298	c.227C>A	c.(226-228)cCt>cAt	p.P76H	ANO2_ENST00000327087.8_Missense_Mutation_p.P76H|ANO2_ENST00000546188.1_Missense_Mutation_p.P76H	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	80						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAAGGACACAGGCTCATTGGC	0.557													19	81					1.00905e-13	1.05366e-13	1	0	T	6030501	G	T	6030501	3	4	408	1	0	0	0	0	1	0	0	0	696	1000	35	4	2865	4	ANO2	12	6030501	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1632474	6030501	127821394	2409	80227											
VWF	7450	broad.mit.edu	37	chr12	6167200	6167200	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcttcccggcatagAcgggggacagctgcaggaga	9	5	16	11	3	1	2	0	0	1	2	2	4	2	3	1	5	2	4	1	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6167200A>G	ENST00000261405.5	-	14	1798	c.1544T>C	c.(1543-1545)gTc>gCc	p.V515A		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	515	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCGGCATAGACGGGGGACAG	0.577													17	103					0	0	0	0	G	6167200	A	G	6167200	3	3	408	1	0	0	0	0	1	0	0	0	17342	275	10	5	7053	5	VWF	12	6167200	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	136699	6167200	127684695	2410	80228											
PLEKHG6	55200	broad.mit.edu	37	chr12	6427516	6427516	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgtcccccatgctgggggTtgcatctgagcacaccagac	8	7	12	14	1	1	2	0	1	1	1	2	3	2	2	3	2	3	4	3	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6427516T>C	ENST00000449001.2	+	10	1603	c.1109T>C	c.(1108-1110)gTt>gCt	p.V370A	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.V402A|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.V402A|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.V402A	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	402					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATGCTGGGGGTTGCATCTGAG	0.652													19	97					0	0	0	0	C	6427516	T	C	6427516	3	2	408	1	0	0	0	0	1	0	0	0	12146	1725	60	5	1289	5	PLEKHG6	12	6427516	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	260316	6427516	127424379	2411	80229											
PLEKHG6	55200	broad.mit.edu	37	chr12	6436589	6436589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctacgccaaagagcccttCggcgggaccctcgcctcacc	7	6	10	18	4	2	1	1	0	1	1	4	2	2	2	5	2	2	0	5	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6436589C>T	ENST00000449001.2	+	14	2238	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R614W|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R614W|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R144W	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	614					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AAGAGCCCTTCGGCGGGACCC	0.667													50	226					0	0	0	0	T	6436589	C	T	6436589	3	4	408	1	0	0	0	0	1	0	0	0	12146	875	31	1	1940	1	PLEKHG6	12	6436589	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	9073	6436589	127415306	2412	80230											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6439184	6439184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcctggagtgggactgaAgcttgggtttggggccaggg	7	8	20	6	0	0	1	0	1	0	0	0	4	0	3	2	6	2	2	2	6	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6439184A>G	ENST00000162749.2	-	9	1116	c.817T>C	c.(817-819)Ttc>Ctc	p.F273L	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.F230L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	273					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						gtgggactgaagcttgggttt	0.602													3	21					0	0	0	0	G	6439184	A	G	6439184	3	3	408	1	0	0	0	0	1	0	0	0	16387	72	3	5	558	5	TNFRSF1A	12	6439184	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2595	6439184	127412711	2413	80231											
LTBR	4055	broad.mit.edu	37	chr12	6497628	6497630	+	In_Frame_Del	DEL	CTC	CTC	-																															ctgctccttgccaccgtcttCtcctgcatctggaagagcca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6497628_6497630delCTC	ENST00000228918.4	+	7	1058_1060	c.732_734delCTC	c.(730-735)ttc>tt	p.FS244del	LTBR_ENST00000539925.1_In_Frame_Del_p.FS225del|LTBR_ENST00000541102.1_Intron|LTBR_ENST00000543190.1_3'UTR	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	244					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCACCGTCTTCTCCTGCATCTGG	0.576													50	96	---	---	---	---					-	6497630	CTC	-	6497628	7	5	408	1	0	1	0	1	0	0	0	0	9141	912	32	0	758	0	LTBR	12	6497628	In_Frame_Del	DEL	CTC	TCGA-F7-A624-01A-22D-A30E-08	58444	6497628	127354267	2414	80232											
CHD4	1108	broad.mit.edu	37	chr12	6680033	6680033	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaagaagaaaatggtcctAcctgctgtggggtaggttcg	10	10	14	7	1	1	2	1	0	0	2	3	2	2	2	2	4	2	3	2	4	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6680033A>G	ENST00000309577.6	-	38	5969		c.e38+1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544484.1_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AAATGGTCCTACCTGCTGTGG	0.527													57	228					0	0	0	0	G	6680033	A	G	6680033	5	3	408	1	0	0	0	0	0	0	1	0	3356	405	14	5	23	5	CHD4	12	6680033	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	182405	6680033	127171862	2415	80233											
TPI1	7167	broad.mit.edu	37	chr12	6979496	6979496	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatggcttccttgtgggTggtgcttccctcaagcccga	4	12	14	11	1	1	0	1	0	0	0	3	2	3	1	3	4	2	2	3	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6979496T>C	ENST00000229270.4	+	7	1147	c.810T>C	c.(808-810)ggT>ggC	p.G270G	TPI1_ENST00000488464.2_Silent_p.G151G|TPI1_ENST00000396705.5_Silent_p.G233G|TPI1_ENST00000535434.1_Silent_p.G151G	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	233					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TCCTTGTGGGTGGTGCTTCCC	0.577											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	76					0	0	0	0	C	6979496	T	C	6979496	2	2	408	1	0	0	0	0	0	0	0	1	16498	1683	59	5		5	TPI1	12	6979496	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	299463	6979496	126872399	2416	80234											
ATN1	1822	broad.mit.edu	37	chr12	7044749	7044749	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctccctccgatctggatAgcttggacgggcggagcctt	6	10	13	12	3	2	0	0	0	2	0	4	4	3	3	3	4	2	1	3	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:7044749A>G	ENST00000356654.4	+	5	556	c.319A>G	c.(319-321)Agc>Ggc	p.S107G	ATN1_ENST00000396684.2_Missense_Mutation_p.S107G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	107					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CGATCTGGATAGCTTGGACGG	0.542													17	64					0	0	0	0	G	7044749	A	G	7044749	3	3	408	1	0	0	0	0	1	0	0	0	1115	420	15	5	333	5	ATN1	12	7044749	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	65253	7044749	126807146	2417	80235											
ATN1	1822	broad.mit.edu	37	chr12	7046509	7046509	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctcgcccaccgtgggAcctgggcccctgccacctgc	3	5	13	20	3	0	0	0	0	0	0	1	1	0	1	8	3	2	1	8	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:7046509A>G	ENST00000356654.4	+	5	2316	c.2079A>G	c.(2077-2079)ggA>ggG	p.G693G	ATN1_ENST00000396684.2_Silent_p.G693G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	693					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCACCGTGGGACCTGGGCCCC	0.736													5	9					0	0	0	0	G	7046509	A	G	7046509	2	3	408	1	0	0	0	0	0	0	0	1	1115	262	10	5		5	ATN1	12	7046509	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1760	7046509	126805386	2418	80236											
CLSTN3	9746	broad.mit.edu	37	chr12	7288935	7288935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaccagccatgtggcCaagggctgtgaccgtgacaa	10	6	13	12	1	0	3	0	2	0	1	0	3	0	3	4	2	2	2	4	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:7288935C>T	ENST00000537408.1	+	5	1450	c.912C>T	c.(910-912)gcC>gcT	p.A304A	CLSTN3_ENST00000266546.6_Silent_p.A292A			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	292					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GCCATGTGGCCAAGGGCTGTG	0.587													14	63					0	0	0	0	T	7288935	C	T	7288935	2	4	408	1	0	0	0	0	0	0	0	1	3593	581	21	4		4	CLSTN3	12	7288935	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	242426	7288935	126562960	2419	80237											
FOXJ2	55810	broad.mit.edu	37	chr12	8192624	8192624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgcaccaggacggcAagccacgatacagctatgcc	12	4	11	14	2	0	0	0	0	0	0	0	2	0	1	3	2	6	4	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8192624A>G	ENST00000162391.3	+	2	1341	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FOXJ2_ENST00000428177.2_Missense_Mutation_p.K66E	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	66					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCAGGACGGCAAGCCACGATA	0.572													7	141					0	0	0	0	G	8192624	A	G	8192624	3	3	408	1	0	0	0	0	1	0	0	0	6059	131	5	5	198	5	FOXJ2	12	8192624	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	903689	8192624	125659271	2420	80238											
FOXJ2	55810	broad.mit.edu	37	chr12	8201971	8201971	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagaactgatggagagTctacgacaggcagagcagaa	14	8	13	6	1	1	5	0	1	1	4	1	7	1	5	0	2	3	3	0	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8201971T>C	ENST00000162391.3	+	9	2486	c.1341T>C	c.(1339-1341)agT>agC	p.S447S	FOXJ2_ENST00000428177.2_Silent_p.S447S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	447					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TGATGGAGAGTCTACGACAGG	0.522													51	194					0	0	0	0	C	8201971	T	C	8201971	2	2	408	1	0	0	0	0	0	0	0	1	6059	1664	58	5		5	FOXJ2	12	8201971	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9347	8201971	125649924	2421	80239											
MFAP5	8076	broad.mit.edu	37	chr12	8807057	8807057	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatctgtggaaggtgcaaTatcagccaaaacagccaaaa	16	7	9	9	0	3	0	2	0	1	0	3	1	3	1	2	2	4	1	2	2	7	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8807057T>A	ENST00000359478.2	-	6	380	c.193A>T	c.(193-195)Att>Ttt	p.I65F	MFAP5_ENST00000540087.1_Missense_Mutation_p.I65F|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000543369.1_Missense_Mutation_p.I53F|MFAP5_ENST00000396549.2_Missense_Mutation_p.I65F|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000535336.1_Missense_Mutation_p.I65F	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	65						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GAAGGTGCAATATCAGCCAAA	0.493													3	18					0	0	0	0	A	8807057	T	A	8807057	3	1	408	1	0	0	0	0	1	0	0	0	9587	1406	49	5	348	5	MFAP5	12	8807057	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	605086	8807057	125044838	2422	80240											
RIMKLB	57494	broad.mit.edu	37	chr12	8866471	8866471	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctgatcaagatgtgtagTtctgtggctgccaagttgtg	9	13	13	6	0	2	2	1	1	1	1	2	2	2	2	1	1	2	5	1	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8866471T>C	ENST00000357529.3	+	3	1271	c.9T>C	c.(7-9)agT>agC	p.S3S	RIMKLB_ENST00000535829.1_Silent_p.S3S|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.S3S	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	3					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGATGTGTAGTTCTGTGGCTG	0.408													16	73					0	0	0	0	C	8866471	T	C	8866471	2	2	408	1	0	0	0	0	0	0	0	1	13451	1722	60	5		5	RIMKLB	12	8866471	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	59414	8866471	124985424	2423	80241											
A2ML1	144568	broad.mit.edu	37	chr12	8975929	8975929	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctagaatactctggactgAagaagaggcacttacattgt	13	11	10	7	0	1	4	0	1	1	3	1	5	1	5	0	2	3	2	0	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8975929A>G	ENST00000299698.7	+	2	394	c.214A>G	c.(214-216)Aag>Gag	p.K72E	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTCTGGACTGAAGAAGAGGCA	0.463													19	89					0	0	0	0	G	8975929	A	G	8975929	3	3	408	1	0	0	0	0	1	0	0	0	5	247	9	5	220	5	A2ML1	12	8975929	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	109458	8975929	124875966	2424	80242											
M6PR	4074	broad.mit.edu	37	chr12	9098992	9098992	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctccagcagctgtagaaAgggaacatcctttgggagag	11	8	13	9	0	0	2	0	0	0	2	3	4	3	3	3	2	3	3	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:9098992A>G	ENST00000000412.3	-	2	477	c.9T>C	c.(7-9)ccT>ccC	p.P3P		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	3					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		AGCTGTAGAAAGGGAACATCC	0.488													14	71					0	0	0	0	G	9098992	A	G	9098992	2	3	408	1	0	0	0	0	0	0	0	1	9205	59	3	5		5	M6PR	12	9098992	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	123063	9098992	124752903	2425	80243											
A2M	2	broad.mit.edu	37	chr12	9254095	9254095	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagggtgcctccattcagaAtataatgtgcctggactgtc	9	11	11	10	0	1	1	1	0	0	1	3	2	2	2	3	2	2	1	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:9254095A>C	ENST00000318602.7	-	12	1749	c.1442T>G	c.(1441-1443)aTt>aGt	p.I481S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	481					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCATTCAGAATATAATGTGC	0.493													11	59					0	0	0	0	C	9254095	A	C	9254095	3	2	408	1	0	0	0	0	1	0	0	0	4	101	4	5	3082	5	A2M	12	9254095	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	155103	9254095	124597800	2426	80244											
CLEC1B	51266	broad.mit.edu	37	chr12	10151636	10151636	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctctgagcattcttacCggagatgagagctggtttcc	7	13	12	9	1	2	3	0	2	2	2	3	5	3	3	2	3	3	4	2	3	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10151636C>T	ENST00000428126.2	-	3	333	c.64_splice	c.e3+1	p.A22_splice	CLEC1B_ENST00000298527.6_Splice_Site_p.V22_splice|CLEC1B_ENST00000348658.4_Splice_Site_p.A22_splice			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	55					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GCATTCTTACCGGAGATGAGA	0.333													5	230					0	0	0	0	T	10151636	C	T	10151636	5	4	408	1	0	0	0	0	0	0	1	0	3536	666	23	1	649	1	CLEC1B	12	10151636	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	897541	10151636	123700259	2427	80245											
KLRK1	22914	broad.mit.edu	37	chr12	10531151	10531151	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaattaaaataaatactcaAcctggtcctctttgctgtat	14	14	5	8	0	2	0	1	0	1	0	3	1	3	0	2	1	3	2	2	1	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10531151A>G	ENST00000240618.6	-	6	570		c.e6+1		KLRC4-KLRK1_ENST00000539300.1_Splice_Site|RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Splice_Site	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1						natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TAAATACTCAACCTGGTCCTC	0.378													10	62					0	0	0	0	G	10531151	A	G	10531151	5	3	408	1	0	0	0	0	0	0	1	0	8475	57	2	5	231	5	KLRK1	12	10531151	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	379515	10531151	123320744	2428	80246											
TAS2R8	50836	broad.mit.edu	37	chr12	10958702	10958702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattctgacaaatgtctgcCtcagtttattatttaaaaca	13	15	5	8	0	3	1	1	1	2	0	3	1	3	1	1	0	2	2	1	0	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10958702C>A	ENST00000240615.2	-	1	1190	c.878G>T	c.(877-879)aGg>aTg	p.R293M		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	293					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATGTCTGCCTCAGTTTATT	0.333													21	36					1.96895e-08	2.03015e-08	1	0	A	10958702	C	A	10958702	3	1	408	1	0	0	0	0	1	0	0	0	15678	681	24	4	54	4	TAS2R8	12	10958702	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	427551	10958702	122893193	2429	80247											
TAS2R8	50836	broad.mit.edu	37	chr12	10959184	10959184	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaaagcatcccagcaggatCcagtgcaccaccatatcaat	14	6	7	14	0	1	0	1	0	0	0	3	1	3	1	4	1	3	4	4	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10959184C>T	ENST00000240615.2	-	1	708	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	132					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGCAGGATCCAGTGCACCA	0.413													17	72					0	0	0	0	T	10959184	C	T	10959184	4	4	408	1	0	0	0	0	0	1	0	0	15678	856	30	2	536	2	TAS2R8	12	10959184	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	482	10959184	122892711	2430	80248											
TAS2R9	50835	broad.mit.edu	37	chr12	10962520	10962520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagacagattctggagatgGccaagctgatcaggatgatg	12	8	14	7	0	2	5	1	2	1	3	2	7	2	6	1	3	1	2	1	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10962520G>A	ENST00000240691.2	-	1	247	c.155C>T	c.(154-156)gCc>gTc	p.A52V		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	52					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTGGAGATGGCCAAGCTGAT	0.408													54	103					0	0	0	0	A	10962520	G	A	10962520	3	1	408	1	0	0	0	0	1	0	0	0	15679	1203	42	4	787	4	TAS2R9	12	10962520	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3336	10962520	122889375	2431	80249											
TAS2R14	50840	broad.mit.edu	37	chr12	11091487	11091487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattggctatcttgagaaaaTaaaaagtaccgaggcctgta	16	10	9	6	1	1	1	0	1	1	1	1	3	1	1	2	2	1	3	2	2	9	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:11091487T>A	ENST00000537503.1	-	1	375	c.320A>T	c.(319-321)tAt>tTt	p.Y107F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	107					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTTGAGAAAATAAAAAGTACC	0.373													17	57					0	0	0	0	A	11091487	T	A	11091487	3	1	408	1	0	0	0	0	1	0	0	0	15659	1406	49	5	636	5	TAS2R14	12	11091487	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	128967	11091487	122760408	2432	80250											
TAS2R50	259296	broad.mit.edu	37	chr12	11138911	11138911	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagtaaagggtatgaagctCcatagggtagttacagtcaa	15	9	12	5	0	1	2	1	1	0	1	2	2	2	2	1	2	2	5	1	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:11138911C>T	ENST00000506868.1	-	1	600	c.549G>A	c.(547-549)tgG>tgA	p.W183*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	183					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GTATGAAGCTCCATAGGGTAG	0.403													42	152					0	0	0	0	T	11138911	C	T	11138911	4	4	408	1	0	0	0	0	0	1	0	0	15675	856	30	2	354	2	TAS2R50	12	11138911	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	47424	11138911	122712984	2433	80251											
TAS2R42	353164	broad.mit.edu	37	chr12	11338810	11338810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtaaggaaaaaaaatgaActatgaagaggaaaaggaaa	23	6	10	2	0	0	3	0	2	0	1	0	6	0	6	0	3	1	1	0	3	11	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:11338810A>G	ENST00000334266.1	-	1	733	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	245					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AAAAAAATGAACTATGAAGAG	0.408													4	144					0	0	0	0	G	11338810	A	G	11338810	3	3	408	1	0	0	0	0	1	0	0	0	15671	43	2	5	214	5	TAS2R42	12	11338810	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	199899	11338810	122513085	2434	80252											
GSG1	83445	broad.mit.edu	37	chr12	13243713	13243713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgctgaggatggcagataGgagtgtccgctggccagaga	10	7	16	8	1	0	3	0	1	0	2	1	6	1	5	2	4	1	3	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:13243713G>T	ENST00000337630.6	-	2	116	c.49C>A	c.(49-51)Cta>Ata	p.L17I	GSG1_ENST00000457134.2_Missense_Mutation_p.L17I|GSG1_ENST00000432710.2_Missense_Mutation_p.L30I|GSG1_ENST00000351606.6_Missense_Mutation_p.L30I|GSG1_ENST00000537302.1_Missense_Mutation_p.L17I|GSG1_ENST00000396302.3_Missense_Mutation_p.L17I|GSG1_ENST00000324458.8_Missense_Mutation_p.L30I|GSG1_ENST00000396310.2_Missense_Mutation_p.L14I	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	17						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATGGCAGATAGGAGTGTCCGC	0.562													22	105					2.70639e-06	2.77089e-06	1	0	T	13243713	G	T	13243713	3	4	408	1	0	0	0	0	1	0	0	0	6870	991	35	4	1148	4	GSG1	12	13243713	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1904903	13243713	120608182	2435	80253											
EMP1	2012	broad.mit.edu	37	chr12	13364476	13364476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctggtatctttgtggTccacatcgctactgttatta	6	16	10	9	1	1	0	0	0	1	0	3	0	2	0	1	3	1	5	1	3	4	5	rs147282605	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:13364476T>C	ENST00000256951.5	+	2	231	c.32T>C	c.(31-33)gTc>gCc	p.V11A	EMP1_ENST00000544053.1_Intron|EMP1_ENST00000396301.3_Missense_Mutation_p.V11A|EMP1_ENST00000431267.2_Intron|EMP1_ENST00000537612.1_Missense_Mutation_p.V11A|EMP1_ENST00000542289.1_Splice_Site	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	11					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		ATCTTTGTGGTCCACATCGCT	0.348													4	206					0	0	0	0	C	13364476	T	C	13364476	3	2	408	1	0	0	0	0	1	0	0	0	5139	1667	58	5	34	5	EMP1	12	13364476	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	120763	13364476	120487419	2436	80254											
EMP1	2012	broad.mit.edu	37	chr12	13367596	13367596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttcagcttcatcatcggcGttctctatctggtcctgaga	6	14	9	12	2	5	1	3	1	2	1	8	2	6	1	1	2	1	3	1	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:13367596G>A	ENST00000256951.5	+	5	644	c.445G>A	c.(445-447)Gtt>Att	p.V149I	EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000396301.3_Silent_p.A136A|EMP1_ENST00000431267.2_Missense_Mutation_p.V82I|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	149					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CATCATCGGCGTTCTCTATCT	0.532													45	70					0	0	0	0	A	13367596	G	A	13367596	3	1	408	1	0	0	0	0	1	0	0	0	5139	1145	40	1	459	1	EMP1	12	13367596	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3120	13367596	120484299	2437	80255											
GUCY2C	2984	broad.mit.edu	37	chr12	14781658	14781658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctcccaacagttttttAcaagtaggtacacctggaag	11	12	7	11	0	0	0	0	0	0	0	2	1	2	1	3	2	3	3	3	2	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:14781658A>G	ENST00000261170.3	-	20	2307	c.2171T>C	c.(2170-2172)gTa>gCa	p.V724A		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	724	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACAGTTTTTTACAAGTAGGTA	0.348													25	77					0	0	0	0	G	14781658	A	G	14781658	3	3	408	1	0	0	0	0	1	0	0	0	6946	391	14	5	1082	5	GUCY2C	12	14781658	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1414062	14781658	119070237	2438	80256											
WBP11	51729	broad.mit.edu	37	chr12	14940263	14940263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgtggctttcttctcAatggtggctgcacttgtatc	4	17	11	9	0	2	0	1	0	2	0	4	0	2	0	0	3	2	6	0	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:14940263A>G	ENST00000261167.2	-	12	1895	c.1662T>C	c.(1660-1662)atT>atC	p.I554I	WBP11_ENST00000537574.1_Silent_p.I520I	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	554					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTTTCTTCTCAATGGTGGCTG	0.542													26	996					0	0	0	0	G	14940263	A	G	14940263	2	3	408	1	0	0	0	0	0	0	0	1	17354	126	5	5		5	WBP11	12	14940263	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	158605	14940263	118911632	2439	80257											
RERG	85004	broad.mit.edu	37	chr12	15262345	15262345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgatctcatctaggatgTtcttaagtggcagcacttcc	8	16	8	9	0	3	1	1	1	3	0	5	2	4	2	1	2	1	3	1	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:15262345T>C	ENST00000256953.2	-	5	635	c.299A>G	c.(298-300)aAc>aGc	p.N100S	RERG_ENST00000538313.1_Missense_Mutation_p.N100S|RERG_ENST00000546331.1_Missense_Mutation_p.N81S|RERG_ENST00000536465.1_Missense_Mutation_p.N100S	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	100					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATCTAGGATGTTCTTAAGTGG	0.493													113	454					0	0	0	0	C	15262345	T	C	15262345	3	2	408	1	0	0	0	0	1	0	0	0	13314	1725	60	5	304	5	RERG	12	15262345	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	322082	15262345	118589550	2440	80258											
SLCO1C1	53919	broad.mit.edu	37	chr12	20854395	20854395	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggtagttttgaaattggTaggtattacagatgcctgac	11	14	12	4	0	0	3	0	2	0	1	0	4	0	3	1	3	2	4	1	3	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:20854395T>C	ENST00000381552.1	+	3	639		c.e3+2		SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000266509.2_Splice_Site			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTGAAATTGGTAGGTATTACA	0.418													30	135					0	0	0	0	C	20854395	T	C	20854395	5	2	408	1	0	0	0	0	0	0	1	0	14813	1652	57	5	279	5	SLCO1C1	12	20854395	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5592050	20854395	112997500	2441	80259											
RECQL	5965	broad.mit.edu	37	chr12	21623985	21623986	+	Frame_Shift_Ins	INS	-	-	TT																															aagattagctttaggtcctaINSttttcaaatacgaaatggta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:21623985_21623986insTT	ENST00000444129.2	-	14	2182_2183	c.1714_1715insAA	c.(1714-1716)aggfs	p.R572fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.R572fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	572					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTAGGTCCTATTTTCAAATAC	0.366								Other identified genes with known or suspected DNA repair function					10	61	---	---	---	---					TT	21623986	-	TT	21623985	7	5	408	1	0	1	1	0	0	0	0	0	13283	449	16	0	242	0	RECQL	12	21623985	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	769590	21623985	112227910	2442	80260											
GYS2	2998	broad.mit.edu	37	chr12	21721940	21721940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagcctctttgtcaatgtTaaactgttagaaacaaaaat	15	12	5	9	0	2	1	1	0	1	1	2	1	2	1	2	0	3	2	2	0	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:21721940T>C	ENST00000261195.2	-	5	936	c.682A>G	c.(682-684)Aac>Gac	p.N228D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	228					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTCAATGTTAAACTGTTAG	0.433													31	81					0	0	0	0	C	21721940	T	C	21721940	3	2	408	1	0	0	0	0	1	0	0	0	6963	1754	61	5	1477	5	GYS2	12	21721940	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	97955	21721940	112129955	2443	80261											
ABCC9	10060	broad.mit.edu	37	chr12	22013987	22013987	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcatctgtgacagctttgTacctttgggagaaatgattt	10	14	11	6	0	1	3	0	2	1	1	1	4	1	3	1	2	2	3	1	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22013987T>C	ENST00000261200.4	-	19	2341	c.2342A>G	c.(2341-2343)tAc>tGc	p.Y781C	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.Y781C|ABCC9_ENST00000345162.2_Missense_Mutation_p.Y745C	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	781	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GACAGCTTTGTACCTTTGGGA	0.328													19	63					0	0	0	0	C	22013987	T	C	22013987	3	2	408	1	0	0	0	0	1	0	0	0	59	1638	57	5	2529	5	ABCC9	12	22013987	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	292047	22013987	111837908	2444	80262											
ABCC9	10060	broad.mit.edu	37	chr12	22068689	22068689	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaattgccttcagatcAataggctttttgtgagcaga	10	15	8	8	0	2	3	2	1	0	2	3	3	3	3	2	1	2	2	2	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22068689A>G	ENST00000261200.4	-	5	728	c.729T>C	c.(727-729)atT>atC	p.I243I	ABCC9_ENST00000261201.4_Silent_p.I243I|ABCC9_ENST00000345162.2_Silent_p.I243I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	243					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTTCAGATCAATAGGCTTTT	0.368													26	113					0	0	0	0	G	22068689	A	G	22068689	2	3	408	1	0	0	0	0	0	0	0	1	59	126	5	5		5	ABCC9	12	22068689	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	54702	22068689	111783206	2445	80263											
ABCC9	10060	broad.mit.edu	37	chr12	22078939	22078939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacactatcgatgttgtagTggcaacgaatcccatcacgg	12	10	9	10	3	1	0	1	0	0	0	3	2	2	0	1	2	2	3	1	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22078939T>C	ENST00000261200.4	-	3	342	c.343A>G	c.(343-345)Act>Gct	p.T115A	ABCC9_ENST00000261201.4_Missense_Mutation_p.T115A|ABCC9_ENST00000345162.2_Missense_Mutation_p.T115A|ABCC9_ENST00000538350.1_Missense_Mutation_p.T115A|ABCC9_ENST00000326684.4_Missense_Mutation_p.T115A	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	115					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGTTGTAGTGGCAACGAAT	0.413													9	152					0	0	0	0	C	22078939	T	C	22078939	3	2	408	1	0	0	0	0	1	0	0	0	59	1696	59	5	4592	5	ABCC9	12	22078939	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	10250	22078939	111772956	2446	80264											
CMAS	55907	broad.mit.edu	37	chr12	22218161	22218161	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggatacatttgcaaatgTaatggtggccgtggtgccat	9	13	13	6	1	0	0	0	0	0	0	0	1	0	1	2	4	3	3	2	4	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22218161T>C	ENST00000229329.2	+	8	1351	c.1221T>C	c.(1219-1221)tgT>tgC	p.C407C		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	407					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTGCAAATGTAATGGTGGCC	0.438													45	156					0	0	0	0	C	22218161	T	C	22218161	2	2	408	1	0	0	0	0	0	0	0	1	3605	1644	57	5		5	CMAS	12	22218161	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	139222	22218161	111633734	2447	80265											
SOX5	6660	broad.mit.edu	37	chr12	23696242	23696242	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgaaggcattcattggAcgctttatgtggggttcatt	9	14	11	7	1	2	1	2	1	0	0	2	2	2	2	1	4	0	3	1	4	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:23696242A>G	ENST00000546136.1	-	12	1637	c.1635T>C	c.(1633-1635)cgT>cgC	p.R545R	SOX5_ENST00000381381.2_Silent_p.R437R|SOX5_ENST00000541536.1_Silent_p.R437R|SOX5_ENST00000537393.1_Silent_p.R523R|SOX5_ENST00000451604.2_Silent_p.R558R|SOX5_ENST00000396007.2_Silent_p.R172R|SOX5_ENST00000309359.1_Silent_p.R545R|SOX5_ENST00000545921.1_Silent_p.R548R			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	558				E -> G (in Ref. 2; BAB85048).	transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CATTCATTGGACGCTTTATGT	0.463													7	165					0	0	0	0	G	23696242	A	G	23696242	2	3	408	1	0	0	0	0	0	0	0	1	15042	262	10	5		5	SOX5	12	23696242	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1478081	23696242	110155653	2448	80266											
LRMP	4033	broad.mit.edu	37	chr12	25260900	25260900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attccagaagtctgtggatgCcgctcccacacagcaagagg	11	7	11	12	1	1	2	0	0	1	2	3	3	3	3	3	2	2	2	3	2	2	1	rs116094067	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:25260900C>T	ENST00000354454.3	+	21	2235	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	LRMP_ENST00000548766.1_Missense_Mutation_p.A469V|LRMP_ENST00000547044.1_Missense_Mutation_p.A469V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	525					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TCTGTGGATGCCGCTCCCACA	0.498													5	152					0	0	0	0	T	25260900	C	T	25260900	3	4	408	1	0	0	0	0	1	0	0	0	9014	739	26	4	1472	4	LRMP	12	25260900	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1564658	25260900	108590995	2449	80267											
LRMP	4033	broad.mit.edu	37	chr12	25260936	25260936	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggactcatggacgtctcTagaacatatcttgtggccat	11	11	10	9	1	3	2	1	0	2	2	4	4	3	4	1	3	1	0	1	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:25260936T>C	ENST00000354454.3	+	21	2271	c.1442T>C	c.(1441-1443)cTa>cCa	p.L481P	LRMP_ENST00000548766.1_Missense_Mutation_p.L481P|LRMP_ENST00000547044.1_Missense_Mutation_p.L481P	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	537					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TGGACGTCTCTAGAACATATC	0.463													7	137					0	0	0	0	C	25260936	T	C	25260936	3	2	408	1	0	0	0	0	1	0	0	0	9014	1522	53	5	1508	5	LRMP	12	25260936	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	36	25260936	108590959	2450	80268											
TM7SF3	51768	broad.mit.edu	37	chr12	27143527	27143527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggagggaggagaaggaaaCacttgtcttatcattagctg	12	9	14	6	1	2	1	1	0	1	1	2	5	2	4	0	4	2	1	0	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27143527C>T	ENST00000343028.4	-	6	949	c.724G>A	c.(724-726)Gtt>Att	p.V242I	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	242						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GAGAAGGAAACACTTGTCTTA	0.408													55	95					0	0	0	0	T	27143527	C	T	27143527	3	4	408	1	0	0	0	0	1	0	0	0	16069	478	17	4	1016	4	TM7SF3	12	27143527	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1882591	27143527	106708368	2451	80269											
PPFIBP1	8496	broad.mit.edu	37	chr12	27829385	27829385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctccggcagaaagcaggCcatttgggacccttcctccc	8	7	11	15	1	0	1	0	0	0	1	3	3	3	2	5	3	2	3	5	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27829385C>T	ENST00000318304.8	+	18	1769	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.P343S|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.P465S|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.P479S	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	496					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AGAAAGCAGGCCATTTGGGAC	0.557													64	86					0	0	0	0	T	27829385	C	T	27829385	3	4	408	1	0	0	0	0	1	0	0	0	12384	739	26	4	1539	4	PPFIBP1	12	27829385	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	685858	27829385	106022510	2452	80270											
PPFIBP1	8496	broad.mit.edu	37	chr12	27844717	27844717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaattttgggaatttGagaaagaagaaacaggaaga	18	10	11	2	0	0	4	0	1	0	4	0	7	0	6	0	2	2	1	0	2	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27844717G>T	ENST00000318304.8	+	27	3022	c.2739G>T	c.(2737-2739)ttG>ttT	p.L913F	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L760F|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L882F|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L907F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	913					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTGGGAATTTGAGAAAGAAGA	0.353													25	148					4.22769e-11	4.39123e-11	1	0	T	27844717	G	T	27844717	3	4	408	1	0	0	0	0	1	0	0	0	12384	1281	45	2	2865	2	PPFIBP1	12	27844717	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	15332	27844717	106007178	2453	80271											
PPFIBP1	8496	broad.mit.edu	37	chr12	27845536	27845536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgcagatggaagattcaGaagggacagtgagacagata	16	8	13	4	0	1	5	1	1	0	5	1	8	1	7	0	2	1	1	0	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27845536G>A	ENST00000318304.8	+	28	3179	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E813K|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E935K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E960K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	966					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGAAGATTCAGAAGGGACAGT	0.358													20	170					0	0	0	0	A	27845536	G	A	27845536	3	1	408	1	0	0	0	0	1	0	0	0	12384	943	33	2	3026	2	PPFIBP1	12	27845536	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	819	27845536	106006359	2454	80272											
PPFIBP1	8496	broad.mit.edu	37	chr12	27845553	27845553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaagggacagtgagacaGataggtgcattctctgaagg	13	8	14	6	0	2	4	1	2	1	3	3	6	2	5	0	3	1	1	0	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27845553G>C	ENST00000318304.8	+	28	3196	c.2913G>C	c.(2911-2913)caG>caC	p.Q971H	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.Q818H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.Q940H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.Q965H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	971					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGTGAGACAGATAGGTGCAT	0.373													22	175					0	0	0	0	C	27845553	G	C	27845553	3	2	408	1	0	0	0	0	1	0	0	0	12384	933	33	2	3043	2	PPFIBP1	12	27845553	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	17	27845553	106006342	2455	80273											
PPFIBP1	8496	broad.mit.edu	37	chr12	27845798	27845798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtgccagcattacagatGaagactcaaacgtttgaccg	13	8	9	11	2	1	4	1	2	0	2	1	4	1	4	3	0	4	2	3	0	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27845798G>A	ENST00000318304.8	+	29	3302	c.3019G>A	c.(3019-3021)Gaa>Aaa	p.E1007K	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E854K|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E976K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E1001K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	1007					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CATTACAGATGAAGACTCAAA	0.428													16	67					0	0	0	0	A	27845798	G	A	27845798	3	1	408	1	0	0	0	0	1	0	0	0	12384	1291	45	2	3153	2	PPFIBP1	12	27845798	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	245	27845798	106006097	2456	80274											
MRPS35	60488	broad.mit.edu	37	chr12	27908288	27908288	+	Frame_Shift_Del	DEL	A	A	-																															ctaaagaaattgaagagtacAaaaagtctgttgttagtctt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27908288delA	ENST00000081029.3	+	8	948	c.877delA	c.(877-879)aafs	p.K294fs	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	294					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TGAAGAGTACAAAAAGTCTGT	0.323													44	163	---	---	---	---					-	27908288	A	-	27908288	7	5	408	1	0	1	0	1	0	0	0	0	9914	131	5	0	907	0	MRPS35	12	27908288	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	62490	27908288	105943607	2457	80275											
PTHLH	5744	broad.mit.edu	37	chr12	28122739	28122739	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcgaaaataaaatggtttTatatatgcatcaatgataag	18	13	7	3	1	1	1	1	1	0	0	1	2	1	1	0	1	2	2	0	1	10	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:28122739T>C	ENST00000395868.3	-	0	241				PTHLH_ENST00000201015.4_Intron|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000354417.3_Intron|PTHLH_ENST00000535992.1_Intron|PTHLH_ENST00000545234.1_Intron|RP11-993B23.3_ENST00000538113.1_RNA	NM_198964.1	NP_945315.1	P12272	PTHR_HUMAN	parathyroid hormone-like hormone						activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AAAATGGTTTTATATATGCAT	0.403													30	124					0	0	0	0	C	28122739	T	C	28122739	1	2	408	1	0	0	0	0	0	0	0	0	12841	1769	61	5		5	PTHLH	12	28122739	Translation_Start_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	214451	28122739	105729156	2458	80276											
OVCH1	341350	broad.mit.edu	37	chr12	29649501	29649501	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgacctgccatggatgTccagtcactgttgaatttct	8	13	9	11	0	2	2	1	2	1	0	3	3	3	3	3	1	1	2	3	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:29649501T>C	ENST00000318184.5	-	2	170	c.171A>G	c.(169-171)ggA>ggG	p.G57G		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	57	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCATGGATGTCCAGTCACTG	0.393													23	77					0	0	0	0	C	29649501	T	C	29649501	2	2	408	1	0	0	0	0	0	0	0	1	11394	1654	58	5		5	OVCH1	12	29649501	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1526762	29649501	104202394	2459	80277											
DDX11	1663	broad.mit.edu	37	chr12	31255934	31255934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagctgcaggagaagatgGcctacttggatcaaaccctc	12	7	11	11	0	1	3	1	0	0	3	2	5	1	4	2	3	4	2	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:31255934G>A	ENST00000407793.2	+	24	2688	c.2437G>A	c.(2437-2439)Gcc>Acc	p.A813T	DDX11_ENST00000545668.1_Missense_Mutation_p.A813T|DDX11_ENST00000350437.4_Missense_Mutation_p.A763T|DDX11_ENST00000228264.6_Missense_Mutation_p.A787T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.A813T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	813					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGAGAAGATGGCCTACTTGGA	0.607										Multiple Myeloma(12;0.14)			14	68					0	0	0	0	A	31255934	G	A	31255934	3	1	408	1	0	0	0	0	1	0	0	0	4375	1203	42	4	2527	4	DDX11	12	31255934	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1606433	31255934	102595961	2460	80278											
DENND5B	160518	broad.mit.edu	37	chr12	31600487	31600487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgcttcttttaaagTgctgcatttctgatatatag	9	18	7	7	0	2	1	0	1	2	0	2	1	2	1	1	0	4	4	1	0	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:31600487T>A	ENST00000389082.5	-	6	2110	c.1846A>T	c.(1846-1848)Act>Tct	p.T616S	DENND5B_ENST00000306833.6_Missense_Mutation_p.T651S|DENND5B_ENST00000354285.4_Missense_Mutation_p.T638S|DENND5B_ENST00000536562.1_Missense_Mutation_p.T651S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	616						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCTTTTAAAGTGCTGCATTTC	0.378													7	37					0	0	0	0	A	31600487	T	A	31600487	3	1	408	1	0	0	0	0	1	0	0	0	4474	1696	59	5	2042	5	DENND5B	12	31600487	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	344553	31600487	102251408	2461	80279											
BICD1	636	broad.mit.edu	37	chr12	32487496	32487496	+	Frame_Shift_Del	DEL	A	A	-																															caagaacaaatatgaaaatgAaaaagcaatggtgactgaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:32487496delA	ENST00000548411.1	+	6	2328	c.2147delA	c.(2146-2148)gafs	p.E716fs	BICD1_ENST00000281474.5_Frame_Shift_Del_p.E716fs	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	716	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TATGAAAATGAAAAAGCAATG	0.388													28	84	---	---	---	---					-	32487496	A	-	32487496	7	5	408	1	0	1	0	1	0	0	0	0	1433	246	9	0	2169	0	BICD1	12	32487496	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	887009	32487496	101364399	2462	80280											
PKP2	5318	broad.mit.edu	37	chr12	33021956	33021956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtggtctgcctcgagcaTactcactgctcgctccagag	7	10	10	14	2	2	1	1	0	1	1	5	2	3	1	2	1	4	3	2	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:33021956T>C	ENST00000340811.4	-	4	1183	c.1075A>G	c.(1075-1077)Atg>Gtg	p.M359V	PKP2_ENST00000070846.6_Missense_Mutation_p.M359V	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	359					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCTCGAGCATACTCACTGCT	0.527													4	188					0	0	0	0	C	33021956	T	C	33021956	3	2	408	1	0	0	0	0	1	0	0	0	12057	1406	49	5	1614	5	PKP2	12	33021956	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	534460	33021956	100829939	2463	80281											
ALG10	84920	broad.mit.edu	37	chr12	34179308	34179308	+	Frame_Shift_Del	DEL	T	T	-																															attttcctcaactattctacTttttttcatttactctcttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:34179308delT	ENST00000266483.2	+	3	1199	c.880delT	c.(880-882)ttfs	p.F295fs	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	295					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACTATTCTACTTTTTTTCATT	0.348													7	222	---	---	---	---					-	34179308	T	-	34179308	7	5	408	1	0	1	0	1	0	0	0	0	511	1609	56	0	890	0	ALG10	12	34179308	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1157352	34179308	99672587	2464	80282											
CPNE8	144402	broad.mit.edu	37	chr12	39047852	39047852	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttccacttctgtcaatAtaatccctgaatggcacaaa	12	13	6	10	0	2	1	1	1	1	0	4	1	4	1	2	2	0	2	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:39047852A>G	ENST00000331366.5	-	20	1623	c.1527T>C	c.(1525-1527)taT>taC	p.Y509Y	CPNE8_ENST00000360449.3_Silent_p.Y497Y|CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Silent_p.Y178Y	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	509	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTCTGTCAATATAATCCCTGA	0.403													3	53					0	0	0	0	G	39047852	A	G	39047852	2	3	408	1	0	0	0	0	0	0	0	1	3848	456	16	5		5	CPNE8	12	39047852	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4868544	39047852	94804043	2465	80283											
KIF21A	55605	broad.mit.edu	37	chr12	39735874	39735874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctttccgaaacaccctTttcttctttcttctcttggt	4	21	3	13	1	5	0	0	0	5	0	8	1	6	0	2	1	1	0	2	1	1	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:39735874T>C	ENST00000395670.3	-	13	2184	c.1765A>G	c.(1765-1767)Aag>Gag	p.K589E	KIF21A_ENST00000544797.2_Missense_Mutation_p.K576E|KIF21A_ENST00000541463.2_Missense_Mutation_p.K576E|KIF21A_ENST00000361418.5_Missense_Mutation_p.K589E|KIF21A_ENST00000361961.3_Missense_Mutation_p.K576E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	589					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GAAACACCCTTTTCTTCTTTC	0.353													5	28					0	0	0	0	C	39735874	T	C	39735874	3	2	408	1	0	0	0	0	1	0	0	0	8339	1850	64	5	3363	5	KIF21A	12	39735874	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	688022	39735874	94116021	2466	80284											
KIF21A	55605	broad.mit.edu	37	chr12	39745734	39745734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgtggctcttgtcaaGttttttcgaaggttctcatt	5	19	9	8	1	3	0	2	0	2	0	5	1	3	0	0	2	1	4	0	2	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:39745734G>T	ENST00000395670.3	-	11	1937	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K	KIF21A_ENST00000544797.2_Missense_Mutation_p.N506K|KIF21A_ENST00000541463.2_Missense_Mutation_p.N506K|KIF21A_ENST00000361418.5_Missense_Mutation_p.N506K|KIF21A_ENST00000361961.3_Missense_Mutation_p.N506K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	506					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTGTCAAGTTTTTTCGAA	0.353													30	156					4.4194e-11	4.5893e-11	1	0	T	39745734	G	T	39745734	3	4	408	1	0	0	0	0	1	0	0	0	8339	1020	36	4	3618	4	KIF21A	12	39745734	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9860	39745734	94106161	2467	80285											
KIF21A	55605	broad.mit.edu	37	chr12	39760881	39760881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacacacatgaatggtaaaaAtggcatgtgaacgagagctc	16	7	11	7	1	0	3	0	2	0	1	1	5	0	3	0	2	2	3	0	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:39760881A>G	ENST00000395670.3	-	5	1105	c.686T>C	c.(685-687)aTt>aCt	p.I229T	KIF21A_ENST00000544797.2_Missense_Mutation_p.I229T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I229T|KIF21A_ENST00000361418.5_Missense_Mutation_p.I229T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I229T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	229	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATGGTAAAAATGGCATGTGA	0.393													19	102					0	0	0	0	G	39760881	A	G	39760881	3	3	408	1	0	0	0	0	1	0	0	0	8339	101	4	5	4474	5	KIF21A	12	39760881	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	15147	39760881	94091014	2468	80286											
ABCD2	225	broad.mit.edu	37	chr12	40012818	40012818	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtttgccagcctcccAtccatattgatcactttata	9	14	6	12	0	2	1	2	1	0	0	4	1	4	1	4	1	2	1	4	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40012818A>G	ENST00000308666.3	-	1	735	c.600T>C	c.(598-600)gaT>gaC	p.D200D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	200	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCAGCCTCCCATCCATATTGA	0.413													18	138					0	0	0	0	G	40012818	A	G	40012818	2	3	408	1	0	0	0	0	0	0	0	1	61	214	8	5		5	ABCD2	12	40012818	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	251937	40012818	93839077	2469	80287											
SLC2A13	114134	broad.mit.edu	37	chr12	40153972	40153972	+	Frame_Shift_Del	DEL	T	T	-																															agtgattcaatttcctctaaTtttttgcctttggtctcagg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40153972delT	ENST00000280871.4	-	10	1853	c.1803delA	c.(1801-1803)aafs	p.K601fs		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	601						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TTTCCTCTAATTTTTTGCCTT	0.403										HNSCC(50;0.14)			21	58	---	---	---	---					-	40153972	T	-	40153972	7	5	408	1	0	1	0	1	0	0	0	0	14630	1490	52	0	147	0	SLC2A13	12	40153972	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	141154	40153972	93697923	2470	80288											
SLC2A13	114134	broad.mit.edu	37	chr12	40345097	40345097	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagctgctggaacatttgTaggccacaacccacaattaa	14	8	9	10	0	0	1	0	0	0	1	0	3	0	2	2	2	4	3	2	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40345097T>C	ENST00000280871.4	-	4	1046	c.996A>G	c.(994-996)ctA>ctG	p.L332L	SLC2A13_ENST00000380858.1_Silent_p.L332L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	332						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GGAACATTTGTAGGCCACAAC	0.368										HNSCC(50;0.14)			11	90					0	0	0	0	C	40345097	T	C	40345097	2	2	408	1	0	0	0	0	0	0	0	1	14630	1625	57	5		5	SLC2A13	12	40345097	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	191125	40345097	93506798	2471	80289											
LRRK2	120892	broad.mit.edu	37	chr12	40629496	40629496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgattggactgaagacctTagatctcctcctaacttcag	11	12	8	10	0	2	4	1	2	1	2	4	5	3	5	3	1	1	0	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40629496T>C	ENST00000298910.7	+	4	474	c.416T>C	c.(415-417)tTa>tCa	p.L139S	LRRK2_ENST00000343742.2_Missense_Mutation_p.L139S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	139					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGAAGACCTTAGATCTCCTC	0.308													10	55					0	0	0	0	C	40629496	T	C	40629496	3	2	408	1	0	0	0	0	1	0	0	0	9097	1764	61	5	430	5	LRRK2	12	40629496	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	284399	40629496	93222399	2472	80290											
LRRK2	120892	broad.mit.edu	37	chr12	40692915	40692915	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctcttgtgactagaaatAaaatatcagggatatgctcc	13	13	8	7	0	2	2	1	1	1	1	4	3	3	3	1	1	1	1	1	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40692915A>T	ENST00000298910.7	+	25	3410	c.3352A>T	c.(3352-3354)Aaa>Taa	p.K1118*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.K1118*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1118					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GACTAGAAATAAAATATCAGG	0.323													19	79					0	0	0	0	T	40692915	A	T	40692915	4	4	408	1	0	0	0	0	0	1	0	0	9097	363	13	5	3450	5	LRRK2	12	40692915	Nonsense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	63419	40692915	93158980	2473	80291											
CNTN1	1272	broad.mit.edu	37	chr12	41330678	41330678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaggaaagcccatccctAcaatccgatggttgaaaaat	15	7	7	12	1	0	1	0	1	0	0	2	3	2	2	4	2	2	1	4	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:41330678A>G	ENST00000551295.2	+	10	1198	c.1081A>G	c.(1081-1083)Aca>Gca	p.T361A	CNTN1_ENST00000348761.2_Missense_Mutation_p.T350A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T361A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T361A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T361A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T361A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	361	Ig-like C2-type 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.T361A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCCATCCCTACAATCCGATG	0.478													11	223					0	0	0	0	G	41330678	A	G	41330678	3	3	408	1	0	0	0	0	1	0	0	0	3670	391	14	5	1115	5	CNTN1	12	41330678	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	637763	41330678	92521217	2474	80292											
CNTN1	1272	broad.mit.edu	37	chr12	41365259	41365259	+	Frame_Shift_Del	DEL	A	A	-																															aaaacagaaaaggtggagagAaaaacatggtggattccttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:41365259delA	ENST00000547849.1	+	16	2147	c.1828delA	c.(1828-1830)aafs	p.K610fs	CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000547702.1_Frame_Shift_Del_p.K610fs|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000360099.3_Frame_Shift_Del_p.K610fs	NM_001256064.1	NP_001242993.1	Q12860	CNTN1_HUMAN	contactin 1	0	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTGGAGAGAAAAACATGGT	0.468													20	32	---	---	---	---					-	41365259	A	-	41365259	7	5	408	1	0	1	0	1	0	0	0	0	3670	261	9	0		0	CNTN1	12	41365259	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	34581	41365259	92486636	2475	80293											
PDZRN4	29951	broad.mit.edu	37	chr12	41957354	41957354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatttgttttctagataaAtggggaagatgtccagaatc	12	14	9	6	0	2	3	1	0	1	3	4	4	3	4	1	2	0	1	1	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:41957354A>G	ENST00000298919.7	+	8	978	c.590A>G	c.(589-591)aAt>aGt	p.N197S	PDZRN4_ENST00000539469.2_Missense_Mutation_p.N199S|PDZRN4_ENST00000402685.2_Missense_Mutation_p.N457S			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	457							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCTAGATAAATGGGGAAGAT	0.418													5	62					0	0	0	0	G	41957354	A	G	41957354	3	3	408	1	0	0	0	0	1	0	0	0	11781	101	4	5	1473	5	PDZRN4	12	41957354	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	592095	41957354	91894541	2476	80294											
IRAK4	51135	broad.mit.edu	37	chr12	44180497	44180497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaaggttcaacagctgctGcaagagatgacagcttctta	14	10	9	8	0	2	2	1	1	1	1	2	3	2	2	0	1	5	5	0	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:44180497G>A	ENST00000431837.1	+	11	1298	c.990G>A	c.(988-990)ctG>ctA	p.L330L	IRAK4_ENST00000440781.2_Silent_p.L330L|IRAK4_ENST00000448290.2_Silent_p.L454L|IRAK4_ENST00000551736.1_Silent_p.L454L	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	454	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AACAGCTGCTGCAAGAGATGA	0.299													14	58					0	0	0	0	A	44180497	G	A	44180497	2	1	408	1	0	0	0	0	0	0	0	1	7878	1306	46	4		4	IRAK4	12	44180497	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2223143	44180497	89671398	2477	80295											
ARID2	196528	broad.mit.edu	37	chr12	46243457	46243457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggagtaaaacggagggctAtaccacttcccattcagatg	13	9	10	9	1	1	1	1	0	0	1	2	3	2	3	2	3	2	2	2	3	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:46243457A>G	ENST00000334344.6	+	14	1982	c.1810A>G	c.(1810-1812)Ata>Gta	p.I604V	ARID2_ENST00000444670.1_Missense_Mutation_p.I214V|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.I455V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	604					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACGGAGGGCTATACCACTTCC	0.453			"N, S, F"		hepatocellular carcinoma								5	304					0	0	0	0	G	46243457	A	G	46243457	3	3	408	1	0	0	0	0	1	0	0	0	917	449	16	5	1864	5	ARID2	12	46243457	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2062960	46243457	87608438	2478	80296											
SLC38A2	54407	broad.mit.edu	37	chr12	46759025	46759025	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaatatcctctgaaaaatAtacacatcttctaacaggac	18	10	3	10	0	3	1	0	1	3	0	4	2	4	2	1	1	2	0	1	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:46759025A>G	ENST00000551374.1	-	1	65	c.25T>C	c.(25-27)Tat>Cat	p.Y9H	SLC38A2_ENST00000547252.1_Intron|SLC38A2_ENST00000256689.5_Intron			Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	0	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCTGAAAAATATACACATCTT	0.348													17	24					0	0	0	0	G	46759025	A	G	46759025	3	3	408	1	0	0	0	0	1	0	0	0	14692	464	16	5		5	SLC38A2	12	46759025	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	515568	46759025	87092870	2479	80297											
SLC38A2	54407	broad.mit.edu	37	chr12	46764402	46764402	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacattccaaaggaagtagtAcctggatgctacatagaggg	14	8	12	7	0	0	1	0	0	0	1	1	4	1	3	2	3	3	3	2	3	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:46764402A>G	ENST00000256689.5	-	4	651	c.207T>C	c.(205-207)ggT>ggC	p.G69G	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	69	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AGGAAGTAGTACCTGGATGCT	0.378													8	128					0	0	0	0	G	46764402	A	G	46764402	2	3	408	1	0	0	0	0	0	0	0	1	14692	378	14	5		5	SLC38A2	12	46764402	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5377	46764402	87087493	2480	80298											
VDR	7421	broad.mit.edu	37	chr12	48238538	48238538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgtcctagtcaggagatCtcattgccaaacacttcgag	10	10	10	11	1	2	1	2	0	1	1	5	3	3	1	2	2	2	1	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48238538C>T	ENST00000229022.3	-	11	1556	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	VDR_ENST00000395324.2_Silent_p.E425E|VDR_ENST00000535672.1_Silent_p.E393E|VDR_ENST00000550325.1_Silent_p.E475E|VDR_ENST00000549336.1_Silent_p.E425E	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	425	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCAGGAGATCTCATTGCCAA	0.637													6	105					0	0	0	0	T	48238538	C	T	48238538	2	4	408	1	0	0	0	0	0	0	0	1	17245	912	32	2		2	VDR	12	48238538	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1474136	48238538	85613357	2481	80299											
COL2A1	1280	broad.mit.edu	37	chr12	48369218	48369218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggacttgagtgtggcAtccacctcggcgtcatgctg	6	11	14	10	2	1	2	1	2	0	0	3	3	2	3	2	3	1	2	2	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48369218A>G	ENST00000380518.3	-	51	3932	c.3768T>C	c.(3766-3768)gaT>gaC	p.D1256D	COL2A1_ENST00000337299.6_Silent_p.D1187D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1256	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGAGTGTGGCATCCACCTCGG	0.642													10	128					0	0	0	0	G	48369218	A	G	48369218	2	3	408	1	0	0	0	0	0	0	0	1	3717	214	8	5		5	COL2A1	12	48369218	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	130680	48369218	85482677	2482	80300											
ASB8	140461	broad.mit.edu	37	chr12	48543375	48543375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaattcaaagtgtccaacaGctctgtggaggagctcaaag	13	9	10	9	0	4	0	3	0	1	0	5	2	5	2	1	2	3	2	1	2	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48543375G>T	ENST00000317697.3	-	4	810	c.641C>A	c.(640-642)gCt>gAt	p.A214D	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.A214D	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	214					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GTGTCCAACAGCTCTGTGGAG	0.527													31	118					1.39806e-14	1.46325e-14	1	0	T	48543375	G	T	48543375	3	4	408	1	0	0	0	0	1	0	0	0	1033	971	34	4	229	4	ASB8	12	48543375	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	174157	48543375	85308520	2483	80301											
ZNF641	121274	broad.mit.edu	37	chr12	48737161	48737161	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcctgatgaggtgatgTcttcgcccaaaggtcttctc	6	13	12	10	1	3	3	0	3	3	0	5	3	3	3	2	3	1	0	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48737161T>C	ENST00000544117.2	-	6	1620	c.912A>G	c.(910-912)agA>agG	p.R304R	ZNF641_ENST00000301042.3_Silent_p.R304R|ZNF641_ENST00000547026.1_Silent_p.R290R|ZNF641_ENST00000448928.3_Silent_p.R281R			Q96N77	ZN641_HUMAN	zinc finger protein 641	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGAGGTGATGTCTTCGCCCAA	0.527													4	174					0	0	0	0	C	48737161	T	C	48737161	2	2	408	1	0	0	0	0	0	0	0	1	18152	1664	58	5		5	ZNF641	12	48737161	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	193786	48737161	85114734	2484	80302											
ZNF641	121274	broad.mit.edu	37	chr12	48737414	48737414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagctctcatcatgctccGggttccagagaacagtatct	9	10	8	14	1	3	1	2	0	2	1	6	2	5	1	3	1	3	4	3	1	2	2	rs144784236	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48737414G>A	ENST00000544117.2	-	6	1367	c.659C>T	c.(658-660)cCg>cTg	p.P220L	ZNF641_ENST00000301042.3_Missense_Mutation_p.P220L|ZNF641_ENST00000547026.1_Missense_Mutation_p.P206L|ZNF641_ENST00000448928.3_Missense_Mutation_p.P197L			Q96N77	ZN641_HUMAN	zinc finger protein 641	220	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						ATCATGCTCCGGGTTCCAGAG	0.522													25	26					0	0	0	0	A	48737414	G	A	48737414	3	1	408	1	0	0	0	0	1	0	0	0	18152	1116	39	1	661	1	ZNF641	12	48737414	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	253	48737414	85114481	2485	80303											
OR8S1	341568	broad.mit.edu	37	chr12	48921859	48921859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcatgctccgcgctGcgcgcggcgcccacggccct	2	5	14	20	8	0	0	0	0	0	0	1	0	1	0	4	2	3	3	4	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48921859G>A	ENST00000310194.1	+	2	1053	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	351					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCGCGCTGCGCGCGGCGC	0.662													4	26					0	0	0	0	A	48921859	G	A	48921859	2	1	408	1	0	0	0	0	0	0	0	1	11317	1306	46	4		4	OR8S1	12	48921859	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	184445	48921859	84930036	2486	80304											
DHH	50846	broad.mit.edu	37	chr12	49485061	49485061	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccttcgtagtggagtgAatcctgagcgtggtggccgt	6	10	16	9	4	0	2	0	2	0	0	2	3	1	3	3	4	1	1	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49485061A>G	ENST00000266991.2	-	2	721	c.415T>C	c.(415-417)Tca>Cca	p.S139P	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	139					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						TAGTGGAGTGAATCCTGAGCG	0.622													45	123					0	0	0	0	G	49485061	A	G	49485061	3	3	408	1	0	0	0	0	1	0	0	0	4520	246	9	5	783	5	DHH	12	49485061	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	563202	49485061	84366834	2487	80305											
TUBA1A	7846	broad.mit.edu	37	chr12	49580268	49580268	+	Frame_Shift_Del	DEL	G	G	-																															aacatgatgggggaggagcaGgggggaggaggaggagggac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49580268delG	ENST00000546918.1	-	2	438	c.352delC	c.(352-354)tgfs	p.L120fs	TUBA1A_ENST00000550767.1_Intron|TUBA1A_ENST00000295766.5_Intron|TUBA1A_ENST00000301071.7_Intron			Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	0					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						gggaggagcaggggggaggag	0.627													29	125	---	---	---	---					-	49580268	G	-	49580268	7	5	408	1	0	1	0	1	0	0	0	0	16839	1015	35	0		0	TUBA1A	12	49580268	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	95207	49580268	84271627	2488	80306											
PRPH	5630	broad.mit.edu	37	chr12	49689166	49689166	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcgcctgggcagcttccgTagcccccgagcgggagcggg	4	5	18	14	5	0	0	0	0	0	0	1	2	1	1	4	3	5	3	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49689166T>C	ENST00000257860.4	+	1	1682	c.183T>C	c.(181-183)cgT>cgC	p.R61R	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	61	Head.						structural molecule activity	p.R61R(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GCAGCTTCCGTAGCCCCCGAG	0.736													7	27					0	0	0	0	C	49689166	T	C	49689166	2	2	408	1	0	0	0	0	0	0	0	1	12656	1625	57	5		5	PRPH	12	49689166	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	108898	49689166	84162729	2489	80307											
SPATS2	65244	broad.mit.edu	37	chr12	49888751	49888751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagaattggaggatccCgagtctgccatgctagatac	11	8	12	10	1	1	2	0	0	1	2	2	6	2	4	3	2	3	1	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49888751C>T	ENST00000553127.1	+	8	1005	c.492C>T	c.(490-492)ccC>ccT	p.P164P	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Silent_p.P164P|SPATS2_ENST00000552918.1_Silent_p.P164P			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	164						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TGGAGGATCCCGAGTCTGCCA	0.438													12	100					0	0	0	0	T	49888751	C	T	49888751	2	4	408	1	0	0	0	0	0	0	0	1	15109	639	23	1		1	SPATS2	12	49888751	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	199585	49888751	83963144	2490	80308											
KCNH3	23416	broad.mit.edu	37	chr12	49938030	49938030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttccgcggctggaccggTactcgcagtacagcgccgtg	5	8	14	14	6	0	0	0	0	0	0	2	1	1	1	3	3	4	5	3	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49938030T>C	ENST00000257981.6	+	7	1314	c.1054T>C	c.(1054-1056)Tac>Cac	p.Y352H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	352					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTGGACCGGTACTCGCAGTA	0.672													5	19					0	0	0	0	C	49938030	T	C	49938030	3	2	408	1	0	0	0	0	1	0	0	0	8086	1638	57	5	1080	5	KCNH3	12	49938030	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	49279	49938030	83913865	2491	80309											
FAM186B	84070	broad.mit.edu	37	chr12	49993649	49993649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagacatgggcaagtgtgGcctcctgctttggtgagcag	8	9	16	8	0	0	2	0	1	0	1	1	3	1	2	2	4	2	3	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49993649G>A	ENST00000544141.1	-	4	2103	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S	FAM186B_ENST00000257894.2_Missense_Mutation_p.P592S|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	592						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCAAGTGTGGCCTCCTGCTT	0.572													23	79					0	0	0	0	A	49993649	G	A	49993649	3	1	408	1	0	0	0	0	1	0	0	0	5554	1203	42	4	923	4	FAM186B	12	49993649	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	55619	49993649	83858246	2492	80310											
PRPF40B	25766	broad.mit.edu	37	chr12	50037668	50037668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctgagagtgagacagacCctgaggagaaagctggcaag	13	5	15	8	0	0	5	0	3	0	4	1	8	1	5	2	2	1	2	2	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:50037668C>A	ENST00000261897.1	+	24	2916	c.2365C>A	c.(2365-2367)Cct>Act	p.P789T	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.P802T|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P823T			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	802					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TGAGACAGACCCTGAGGAGAA	0.527													20	96					8.28177e-16	8.68412e-16	1	0	A	50037668	C	A	50037668	3	1	408	1	0	0	0	0	1	0	0	0	12652	623	22	4	2498	4	PRPF40B	12	50037668	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	44019	50037668	83814227	2493	80311											
TMPRSS12	283471	broad.mit.edu	37	chr12	51237699	51237699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgaagcacaagctggcGcatggccgtgggtggtgagc	8	5	17	11	3	0	1	0	1	0	0	0	2	0	1	2	4	3	4	2	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51237699G>A	ENST00000551456.1	+	2	307	c.262G>A	c.(262-264)Gca>Aca	p.A88T	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.A88T			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	88	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						ACAAGCTGGCGCATGGCCGTG	0.488													9	15					0	0	0	0	A	51237699	G	A	51237699	3	1	408	1	0	0	0	0	1	0	0	0	16338	1087	38	1	268	1	TMPRSS12	12	51237699	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1200031	51237699	82614196	2494	80312											
SLC11A2	4891	broad.mit.edu	37	chr12	51390601	51390601	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agataagggccttgctcaccTtgactaaggcagaatgcagg	12	8	12	9	0	1	3	1	1	0	2	1	3	1	3	2	3	2	3	2	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51390601T>G	ENST00000394904.3	-	9	966	c.918_splice	c.e9+1	p.K306_splice	SLC11A2_ENST00000262052.5_Splice_Site_p.K277_splice|SLC11A2_ENST00000262051.7_Splice_Site_p.K277_splice|SLC11A2_ENST00000541174.2_Splice_Site_p.K277_splice|SLC11A2_ENST00000545993.2_Splice_Site_p.K273_splice|SLC11A2_ENST00000547198.1_Splice_Site_p.K277_splice|SLC11A2_ENST00000547688.1_Splice_Site_p.K306_splice|SLC11A2_ENST00000546743.1_Splice_Site_p.K198_splice	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	277					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTTGCTCACCTTGACTAAGGC	0.478													8	96					0	0	0	0	G	51390601	T	G	51390601	5	3	408	1	0	0	0	0	0	0	1	0	14469	1623	56	5	969	5	SLC11A2	12	51390601	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	152902	51390601	82461294	2495	80313											
LETMD1	25875	broad.mit.edu	37	chr12	51449704	51449704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatatctatcatgctttccGgaagcagtcccacccagaaa	13	9	7	12	1	2	2	1	0	1	2	4	3	4	3	3	1	2	2	3	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51449704G>A	ENST00000418425.2	+	5	618	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Missense_Mutation_p.R70Q|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.R187Q|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.R131Q	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	187	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CATGCTTTCCGGAAGCAGTCC	0.448													4	148					0	0	0	0	A	51449704	G	A	51449704	3	1	408	1	0	0	0	0	1	0	0	0	8789	1116	39	1	578	1	LETMD1	12	51449704	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	59103	51449704	82402191	2496	80314											
POU6F1	5463	broad.mit.edu	37	chr12	51585438	51585438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcagagcctgacccacCtgggtctgtgtaaggcccag	8	7	13	13	0	2	2	1	1	1	1	2	2	2	2	4	2	1	2	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51585438C>T	ENST00000389243.4	-	10	1440	c.501G>A	c.(499-501)caG>caA	p.Q167Q	POU6F1_ENST00000333640.10_Silent_p.Q167Q|POU6F1_ENST00000550824.1_Silent_p.Q167Q			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	167	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCTGACCCACCTGGGTCTGTG	0.572													27	141					0	0	0	0	T	51585438	C	T	51585438	2	4	408	1	0	0	0	0	0	0	0	1	12355	680	24	4		4	POU6F1	12	51585438	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	135734	51585438	82266457	2497	80315											
SLC4A8	9498	broad.mit.edu	37	chr12	51879581	51879581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgccaggtacgctccaTggtgagtgactttgctgttt	6	14	11	10	1	1	2	1	2	0	0	2	2	2	2	2	2	3	4	2	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51879581T>C	ENST00000453097.2	+	17	2400	c.2183T>C	c.(2182-2184)aTg>aCg	p.M728T	SLC4A8_ENST00000358657.3_Missense_Mutation_p.M755T	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	728					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GTACGCTCCATGGTGAGTGAC	0.398													15	96					0	0	0	0	C	51879581	T	C	51879581	3	2	408	1	0	0	0	0	1	0	0	0	14747	1464	51	5	2249	5	SLC4A8	12	51879581	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	294143	51879581	81972314	2498	80316											
SCN8A	6334	broad.mit.edu	37	chr12	52159635	52159635	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgtgtctgcaagatcAaccaggactgtgaactccct	12	9	10	10	0	2	3	1	1	1	2	3	4	3	4	2	1	3	1	2	1	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52159635A>C	ENST00000354534.5	+	16	2903	c.2725A>C	c.(2725-2727)Aac>Cac	p.N909H	SCN8A_ENST00000545061.1_Missense_Mutation_p.N909H|SCN8A_ENST00000550891.1_Missense_Mutation_p.N909H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	909					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CTGCAAGATCAACCAGGACTG	0.493													4	191					0	0	0	0	C	52159635	A	C	52159635	3	2	408	1	0	0	0	0	1	0	0	0	14011	130	5	5	2783	5	SCN8A	12	52159635	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	280054	52159635	81692260	2499	80317											
ANKRD33	341405	broad.mit.edu	37	chr12	52284371	52284371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgctccttcccaggtgCtgacctgacagcagtggacc	6	9	11	15	0	0	2	0	2	0	0	2	3	2	3	5	2	3	3	5	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52284371C>T	ENST00000301190.6	+	5	868	c.641C>T	c.(640-642)gCt>gTt	p.A214V	ANKRD33_ENST00000340970.4_Missense_Mutation_p.A89V|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A20V	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	89										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TTCCCAGGTGCTGACCTGACA	0.587													10	26					0	0	0	0	T	52284371	C	T	52284371	3	4	408	1	0	0	0	0	1	0	0	0	660	797	28	4	689	4	ANKRD33	12	52284371	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	124736	52284371	81567524	2500	80318											
NR4A1	3164	broad.mit.edu	37	chr12	52448248	52448249	+	Frame_Shift_Ins	INS	-	-	C																															ccccgaggcagcccccgctgINScccccactgccctgcccagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52448248_52448249insC	ENST00000545748.1	+	3	1293_1294	c.298_299insC	c.(298-300)cccfs	p.P100fs	NR4A1_ENST00000394825.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000548232.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000360284.3_Frame_Shift_Ins_p.P59fs|NR4A1_ENST00000243050.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000394824.2_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000550082.1_Frame_Shift_Ins_p.P59fs			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	46					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AGCCCCCGCTGCCCCCACTGCC	0.653													29	128	---	---	---	---					C	52448249	-	C	52448248	7	5	408	1	0	1	1	0	0	0	0	0	10703	1319	46	0	138	0	NR4A1	12	52448248	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	163877	52448248	81403647	2501	80319											
KRT82	3888	broad.mit.edu	37	chr12	52794339	52794339	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttttcaggaagtcgAtctcctgcacgagtgcctct	8	11	10	12	2	3	0	1	0	2	0	5	3	3	1	2	2	2	2	2	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52794339A>T	ENST00000257974.2	-	4	826	c.749T>A	c.(748-750)aTc>aAc	p.I250N	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	250	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGGAAGTCGATCTCCTGCAC	0.597													31	98					0	0	0	0	T	52794339	A	T	52794339	3	4	408	1	0	0	0	0	1	0	0	0	8548	333	12	5	816	5	KRT82	12	52794339	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	346091	52794339	81057556	2502	80320											
KRT82	3888	broad.mit.edu	37	chr12	52799891	52799891	+	Frame_Shift_Del	DEL	C	C	-																															ctcccaaagcccacgttgcaCaggctccgtgagccaaggca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52799891delC	ENST00000257974.2	-	1	248	c.171delG	c.(169-171)ctfs	p.L57fs		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	57	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCACGTTGCACAGGCTCCGTG	0.687													13	40	---	---	---	---					-	52799891	C	-	52799891	7	5	408	1	0	1	0	1	0	0	0	0	8548	465	17	0	1406	0	KRT82	12	52799891	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	5552	52799891	81052004	2503	80321											
KRT75	9119	broad.mit.edu	37	chr12	52824429	52824429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggtccaggttgcggtTgttgtccatggacagcacca	8	10	12	11	1	0	0	0	0	0	0	3	1	3	1	4	4	2	4	4	4	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52824429T>C	ENST00000252245.5	-	5	1151	c.931A>G	c.(931-933)Aac>Gac	p.N311D		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	311	Linker 12.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGGTTGCGGTTGTTGTCCATG	0.572													59	202					0	0	0	0	C	52824429	T	C	52824429	3	2	408	1	0	0	0	0	1	0	0	0	8540	1812	63	5	744	5	KRT75	12	52824429	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	24538	52824429	81027466	2504	80322											
KRT75	9119	broad.mit.edu	37	chr12	52825376	52825376	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgggcagagatttgAccttggcttccagctccacc	6	11	9	15	1	1	2	0	1	1	1	5	3	3	2	5	2	1	3	5	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52825376A>G	ENST00000252245.5	-	4	1041	c.821T>C	c.(820-822)gTc>gCc	p.V274A		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	274	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGAGATTTGACCTTGGCTTC	0.498													28	118					0	0	0	0	G	52825376	A	G	52825376	3	3	408	1	0	0	0	0	1	0	0	0	8540	275	10	5	858	5	KRT75	12	52825376	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	947	52825376	81026519	2505	80323											
KRT6A	3853	broad.mit.edu	37	chr12	52881710	52881710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaccactggcaccgccatAgccactggagacggtggact	10	5	12	14	2	0	1	0	0	0	1	0	4	0	2	4	4	1	1	4	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52881710A>G	ENST00000330722.6	-	9	1557	c.1489T>C	c.(1489-1491)Tat>Cat	p.Y497H		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	497	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACCGCCATAGCCACTGGAG	0.602													17	51					0	0	0	0	G	52881710	A	G	52881710	3	3	408	1	0	0	0	0	1	0	0	0	8532	420	15	5	209	5	KRT6A	12	52881710	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	56334	52881710	80970185	2506	80324											
KRT6A	3853	broad.mit.edu	37	chr12	52882330	52882330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcggcctgcaggttggcGcactggaagaggaaaggaat	11	6	17	7	2	0	1	0	0	0	1	0	4	0	4	1	7	1	3	1	7	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52882330G>A	ENST00000330722.6	-	7	1274	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	402	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGGTTGGCGCACTGGAAGA	0.562													40	75					0	0	0	0	A	52882330	G	A	52882330	2	1	408	1	0	0	0	0	0	0	0	1	8532	1079	38	1		1	KRT6A	12	52882330	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	620	52882330	80969565	2507	80325											
KRT74	121391	broad.mit.edu	37	chr12	52962046	52962046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggtactcgcgcagcAtccgcgccagctcctccttg	4	9	10	18	4	0	0	0	0	0	0	5	0	4	0	5	1	3	5	5	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52962046A>G	ENST00000549343.1	-	8	1342	c.1304T>C	c.(1303-1305)aTg>aCg	p.M435T	KRT74_ENST00000305620.2_Missense_Mutation_p.M421T			Q7RTS7	K2C74_HUMAN	keratin 74	421	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTCGCGCAGCATCCGCGCCAG	0.647													31	139					0	0	0	0	G	52962046	A	G	52962046	3	3	408	1	0	0	0	0	1	0	0	0	8539	217	8	5	339	5	KRT74	12	52962046	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	79716	52962046	80889849	2508	80326											
KRT74	121391	broad.mit.edu	37	chr12	52966367	52966367	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggatgggctccaggtTcttcttgcagttgttcaggt	6	14	12	9	0	4	0	2	0	2	0	5	1	5	1	1	4	1	5	1	4	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52966367T>G	ENST00000549343.1	-	2	594	c.556A>C	c.(556-558)Aac>Cac	p.N186H	KRT74_ENST00000305620.2_Missense_Mutation_p.N186H			Q7RTS7	K2C74_HUMAN	keratin 74	186	Linker 1.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGCTCCAGGTTCTTCTTGCAG	0.557													39	158					0	0	0	0	G	52966367	T	G	52966367	3	3	408	1	0	0	0	0	1	0	0	0	8539	1783	62	5	1065	5	KRT74	12	52966367	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4321	52966367	80885528	2509	80327											
KRT77	374454	broad.mit.edu	37	chr12	53097133	53097133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacccactgccggactcccaCcaccagagcctgcagaagag	12	3	9	17	1	0	3	0	0	0	3	1	4	1	4	6	1	4	1	6	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:53097133C>T	ENST00000341809.3	-	1	114	c.86G>A	c.(85-87)gGt>gAt	p.G29D	KRT77_ENST00000537195.1_De_novo_Start_InFrame	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	29	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGGACTCCCACCACCAGAGCC	0.542													20	73					0	0	0	0	T	53097133	C	T	53097133	3	4	408	1	0	0	0	0	1	0	0	0	8542	507	18	4	1686	4	KRT77	12	53097133	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	130766	53097133	80754762	2510	80328											
KRT3	3850	broad.mit.edu	37	chr12	53189550	53189550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcccaaagccacctccatAgccacctgcaaaggcacagc	12	4	7	18	0	0	0	0	0	0	0	2	0	2	0	6	1	4	3	6	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:53189550A>G	ENST00000417996.2	-	1	351	c.277T>C	c.(277-279)Tat>Cat	p.Y93H	KRT3_ENST00000309505.3_Missense_Mutation_p.Y93H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	93	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccacctccatagccacctgca	0.642													14	238					0	0	0	0	G	53189550	A	G	53189550	3	3	408	1	0	0	0	0	1	0	0	0	8518	420	15	5	1645	5	KRT3	12	53189550	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	92417	53189550	80662345	2511	80329											
TENC1	23371	broad.mit.edu	37	chr12	53452903	53452903	+	Frame_Shift_Del	DEL	C	C	-																															gcagcggcctccccggcagaCccccccggcaccctctccag																								rs142183380		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:53452903delC	ENST00000314250.6	+	18	1768	c.1478delC	c.(1477-1479)acfs	p.T493fs	TENC1_ENST00000552570.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.T503fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.T369fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	493	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.A496fs*31(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCCCGGCAGACCCCCCCGGCA	0.677													24	115	---	---	---	---					-	53452903	C	-	53452903	7	5	408	1	0	1	0	1	0	0	0	0	15852	507	18	0	1657	0	TENC1	12	53452903	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	263353	53452903	80398992	2512	80330											
SP1	6667	broad.mit.edu	37	chr12	53804895	53804895	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgccactccttcagccctTattaccaccaatatggtagc	10	11	5	15	0	1	0	1	0	0	0	2	0	2	0	5	1	4	1	5	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:53804895T>C	ENST00000426431.2	+	6	2268	c.2208T>C	c.(2206-2208)ctT>ctC	p.L736L	SP1_ENST00000327443.4_Silent_p.L743L	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	743	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CTTCAGCCCTTATTACCACCA	0.567													4	165					0	0	0	0	C	53804895	T	C	53804895	2	2	408	1	0	0	0	0	0	0	0	1	15047	1741	61	5		5	SP1	12	53804895	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	351992	53804895	80047000	2513	80331											
ATP5G2	517	broad.mit.edu	37	chr12	54063664	54063664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaaggtacctcatctgtCagtatctccggtcgtttcag	7	14	9	11	2	5	0	3	0	2	0	7	0	5	0	2	2	1	4	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54063664C>T	ENST00000338662.5	-	3	1361	c.156G>A	c.(154-156)ctG>ctA	p.L52L	ATP5G2_ENST00000394349.3_Silent_p.L93L|ATP5G2_ENST00000549164.1_Silent_p.L36L|ATP5G2_ENST00000602871.1_Silent_p.L36L	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	36					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CCTCATCTGTCAGTATCTCCG	0.557													39	54					0	0	0	0	T	54063664	C	T	54063664	2	4	408	1	0	0	0	0	0	0	0	1	1158	813	29	2		2	ATP5G2	12	54063664	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	258769	54063664	79788231	2514	80332											
HOXC12	3228	broad.mit.edu	37	chr12	54348916	54348916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatggctacccgcagccctAcctcggcagcccagtgtctc	7	7	9	18	2	1	0	0	0	1	0	3	0	1	0	4	2	4	3	4	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54348916A>G	ENST00000243103.3	+	1	299	c.203A>G	c.(202-204)tAc>tGc	p.Y68C		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	68					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCGCAGCCCTACCTCGGCAGC	0.701													6	31					0	0	0	0	G	54348916	A	G	54348916	3	3	408	1	0	0	0	0	1	0	0	0	7361	391	14	5	205	5	HOXC12	12	54348916	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	285252	54348916	79502979	2515	80333											
HOXC9	3225	broad.mit.edu	37	chr12	54394074	54394074	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccggccaccggggctcaTcccgccgccgccagacccag	5	5	11	20	5	1	1	1	0	0	1	3	1	3	1	8	3	0	1	8	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54394074T>C	ENST00000303450.4	+	1	172	c.102T>C	c.(100-102)caT>caC	p.H34H	HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Silent_p.H34H	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	34					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCGGGGCTCATCCCGCCGCCG	0.632													19	109					0	0	0	0	C	54394074	T	C	54394074	2	2	408	1	0	0	0	0	0	0	0	1	7367	1432	50	5		5	HOXC9	12	54394074	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	45158	54394074	79457821	2516	80334											
HOXC4	3221	broad.mit.edu	37	chr12	54448943	54448943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagaccactcccagagcgCcacgccgccggagcagcaac	11	2	11	17	4	0	3	0	1	0	2	1	4	1	4	5	1	4	2	5	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54448943C>T	ENST00000430889.2	+	2	795	c.749C>T	c.(748-750)gCc>gTc	p.A250V	HOXC4_ENST00000303406.4_Missense_Mutation_p.A250V	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TCCCAGAGCGCCACGCCGCCG	0.647													13	17					0	0	0	0	T	54448943	C	T	54448943	3	4	408	1	0	0	0	0	1	0	0	0	7363	739	26	4	755	4	HOXC4	12	54448943	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	54869	54448943	79402952	2517	80335											
HNRNPA1	3178	broad.mit.edu	37	chr12	54677727	54677727	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctatggcggtggaggccaaTactttgcaaaaccacgaaac	13	7	10	11	2	0	0	0	0	0	0	0	2	0	1	3	4	4	1	3	4	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54677727T>A	ENST00000546500.1	+	8	1498	c.883T>A	c.(883-885)Tac>Aac	p.Y295N	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.Y282N|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.Y347N|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.Y242N|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	347	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAGGCCAATACTTTGCAAA	0.428													49	91					0	0	0	0	A	54677727	T	A	54677727	3	1	408	1	0	0	0	0	1	0	0	0	7307	1406	49	5	1073	5	HNRNPA1	12	54677727	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	228784	54677727	79174168	2518	80336											
ITGA5	3678	broad.mit.edu	37	chr12	54793706	54793706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttcccgtttttgctggTggtgcagggaaccctcggga	5	11	15	10	2	0	0	0	0	0	0	2	3	1	2	2	4	4	4	2	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54793706T>A	ENST00000293379.4	-	26	2930	c.2669A>T	c.(2668-2670)cAc>cTc	p.H890L	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)	890					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			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						TTTTTGCTGGTGGTGCAGGGA	0.537											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	219					0	0	0	0	A	54793706	T	A	54793706	3	1	408	1	0	0	0	0	1	0	0	0	7932	1696	59	5	500	5	ITGA5	12	54793706	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	115979	54793706	79058189	2519	80337											
NEUROD4	58158	broad.mit.edu	37	chr12	55421134	55421134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaggctggtaccccccGttatgatgttcctatagaca	8	14	8	11	1	1	2	1	1	0	1	2	2	2	2	4	2	1	4	4	2	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:55421134G>A	ENST00000242994.3	+	2	1289	c.911G>A	c.(910-912)cGt>cAt	p.R304H		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	304					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R304H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGTACCCCCCGTTATGATGTT	0.458													272	608					0	0	0	0	A	55421134	G	A	55421134	3	1	408	1	0	0	0	0	1	0	0	0	10420	1145	40	1	913	1	NEUROD4	12	55421134	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	627428	55421134	78430761	2520	80338											
OR6C65	403282	broad.mit.edu	37	chr12	55795221	55795222	+	Frame_Shift_Ins	INS	-	-	A																															aggcccttagggaattcaccINSaaaaaaatattatcattgaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:55795221_55795222insA	ENST00000379665.2	+	1	1008_1009	c.909_910insA	c.(907-912)acaaaafs	p.TK303fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGGAATTCACCAAAAAAATATT	0.351													22	44	---	---	---	---					A	55795222	-	A	55795221	7	5	408	1	0	1	1	0	0	0	0	0	11266	581	21	0	911	0	OR6C65	12	55795221	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	374087	55795221	78056674	2521	80339											
OR6C2	341416	broad.mit.edu	37	chr12	55846907	55846907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctttcagtgactctataAagaggattgcatttctctca	12	14	7	8	0	4	2	2	1	2	1	5	3	4	3	0	1	2	2	0	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:55846907A>G	ENST00000322678.1	+	1	910	c.910A>G	c.(910-912)Aag>Gag	p.K304E	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGACTCTATAAAGAGGATTGC	0.393													11	53					0	0	0	0	G	55846907	A	G	55846907	3	3	408	1	0	0	0	0	1	0	0	0	11262	15	1	5	912	5	OR6C2	12	55846907	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	51686	55846907	78004988	2522	80340											
ITGA7	3679	broad.mit.edu	37	chr12	56091548	56091548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggttcccatccatatccAagctgcctgacagggagtag	10	10	10	11	0	0	1	0	1	0	0	3	2	3	2	4	2	2	3	4	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56091548A>G	ENST00000257880.7	-	10	1691	c.1472T>C	c.(1471-1473)tTg>tCg	p.L491S	ITGA7_ENST00000452168.2_Missense_Mutation_p.L354S|ITGA7_ENST00000555728.1_Missense_Mutation_p.L491S|ITGA7_ENST00000394230.2_Missense_Mutation_p.L451S|ITGA7_ENST00000257879.6_Missense_Mutation_p.L447S|ITGA7_ENST00000553804.1_Missense_Mutation_p.L451S|ITGA7_ENST00000394229.2_Missense_Mutation_p.L447S|ITGA7_ENST00000347027.6_Missense_Mutation_p.L447S			Q13683	ITA7_HUMAN	integrin, alpha 7	491					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCATATCCAAGCTGCCTGA	0.607													6	190					0	0	0	0	G	56091548	A	G	56091548	3	3	408	1	0	0	0	0	1	0	0	0	7934	131	5	5	2141	5	ITGA7	12	56091548	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	244641	56091548	77760347	2523	80341											
BLOC1S1	2647	broad.mit.edu	37	chr12	56112959	56112959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcccaatttgccaagcaGacaggccagtggatcggaat	11	7	12	11	1	0	1	0	0	0	1	1	3	0	3	3	3	3	2	3	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56112959G>C	ENST00000550412.1	+	3	319	c.303G>C	c.(301-303)caG>caC	p.Q101H	RP11-644F5.10_ENST00000549424.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.Q73H|BLOC1S1_ENST00000551926.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.Q101H|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000549147.1_Missense_Mutation_p.Q101H|BLOC1S1_ENST00000547076.1_Missense_Mutation_p.Q23H																endometrium(1)|lung(1)	2						TTGCCAAGCAGACAGGCCAGT	0.592													25	77					0	0	0	0	C	56112959	G	C	56112959	3	2	408	1	0	0	0	0	1	0	0	0	1453	933	33	2	229	2	BLOC1S1	12	56112959	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	21411	56112959	77738936	2524	80342											
DGKA	1606	broad.mit.edu	37	chr12	56334470	56334470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggctgctccgggatcaCatcctgcctccatcttccat	5	12	9	15	1	2	0	1	0	1	0	6	1	6	1	5	2	2	2	5	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56334470C>T	ENST00000331886.5	+	12	1435	c.981C>T	c.(979-981)caC>caT	p.H327H	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.H327H|DGKA_ENST00000394147.1_Silent_p.H327H	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	327					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCCGGGATCACATCCTGCCTC	0.602											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	119					0	0	0	0	T	56334470	C	T	56334470	2	4	408	1	0	0	0	0	0	0	0	1	4502	477	17	4		4	DGKA	12	56334470	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	221511	56334470	77517425	2525	80343											
SUOX	6821	broad.mit.edu	37	chr12	56397410	56397410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccaataggctgctcaGgagtcaacacacatatacac	13	7	7	14	0	2	0	2	0	0	0	2	1	2	1	2	2	4	2	2	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56397410G>A	ENST00000394109.3	+	3	961	c.237G>A	c.(235-237)caG>caA	p.Q79Q	SUOX_ENST00000551841.2_Silent_p.Q79Q|SUOX_ENST00000548274.1_Silent_p.Q79Q|SUOX_ENST00000356124.4_Silent_p.Q79Q|SUOX_ENST00000394115.2_Silent_p.Q79Q|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000266971.3_Silent_p.Q79Q			P51687	SUOX_HUMAN	sulfite oxidase	79						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGGCTGCTCAGGAGTCAACAC	0.498													4	151					0	0	0	0	A	56397410	G	A	56397410	2	1	408	1	0	0	0	0	0	0	0	1	15485	991	35	4		4	SUOX	12	56397410	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	62940	56397410	77454485	2526	80344											
ERBB3	2065	broad.mit.edu	37	chr12	56480409	56480409	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgagggaccgagatgcTgagatagtggtgaaggacaa	13	7	16	5	2	0	4	0	3	0	2	1	8	0	6	1	3	1	1	1	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56480409T>C	ENST00000267101.3	+	4	956	c.516T>C	c.(514-516)gcT>gcC	p.A172A	ERBB3_ENST00000415288.2_Silent_p.A113A|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	172					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCGAGATGCTGAGATAGTGG	0.493													5	198					0	0	0	0	C	56480409	T	C	56480409	2	2	408	1	0	0	0	0	0	0	0	1	5246	1567	55	5		5	ERBB3	12	56480409	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	82999	56480409	77371486	2527	80345											
SMARCC2	6601	broad.mit.edu	37	chr12	56563405	56563405	+	Frame_Shift_Del	DEL	C	C	-																															ctccacctttgtcttcctttCcccctcagactccaccactt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56563405delC	ENST00000394023.3	-	25	2728	c.2623delG	c.(2623-2625)aafs	p.E875fs	SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.E875fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.E844fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.E875fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	844					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			gtcttcctttccccctcagac	0.617													16	53	---	---	---	---					-	56563405	C	-	56563405	7	5	408	1	0	1	0	1	0	0	0	0	14864	864	30	0	1134	0	SMARCC2	12	56563405	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	82996	56563405	77288490	2528	80346											
RNF41	10193	broad.mit.edu	37	chr12	56601481	56601481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggttctgaaggttggggTtgacactgcggattgcacgc	7	10	15	9	2	1	2	0	2	1	0	1	3	1	3	1	5	2	4	1	5	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56601481T>C	ENST00000345093.4	-	6	920	c.551A>G	c.(550-552)aAc>aGc	p.N184S	RNF41_ENST00000552244.1_Missense_Mutation_p.N184S|RNF41_ENST00000394013.2_Missense_Mutation_p.N113S|RNF41_ENST00000552656.1_Missense_Mutation_p.N184S	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	184					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						AAGGTTGGGGTTGACACTGCG	0.488													4	335					0	0	0	0	C	56601481	T	C	56601481	3	2	408	1	0	0	0	0	1	0	0	0	13579	1725	60	5	410	5	RNF41	12	56601481	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38076	56601481	77250414	2529	80347											
SLC39A5	283375	broad.mit.edu	37	chr12	56629106	56629106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgctacatctgctacCgcatgtatgtgaagcccctt	8	12	8	13	1	1	1	0	1	1	0	1	1	1	1	3	0	6	5	3	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56629106C>T	ENST00000266980.4	+	5	1093	c.800C>T	c.(799-801)cCg>cTg	p.P267L	SLC39A5_ENST00000454355.2_Missense_Mutation_p.P267L	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	267					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCTGCTACCGCATGTATGT	0.607													56	150					0	0	0	0	T	56629106	C	T	56629106	3	4	408	1	0	0	0	0	1	0	0	0	14709	652	23	1	814	1	SLC39A5	12	56629106	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	27625	56629106	77222789	2530	80348											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	8	7	15	11	2	1	1	1	0	0	1	1	2	1	1	2	5	3	4	2	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632													5	421					0	0	0	0	T	56629464	C	T	56629464	3	4	408	1	0	0	0	0	1	0	0	0	14709	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	358	56629464	77222431	2531	80349											
PAN2	9924	broad.mit.edu	37	chr12	56716461	56716461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggctgccccctgtgcGtgagtccaggatgtgtacca	7	8	12	14	1	0	1	0	1	0	0	1	2	1	2	5	2	3	2	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56716461G>A	ENST00000425394.2	-	18	2963	c.2587C>T	c.(2587-2589)Cgc>Tgc	p.R863C	PAN2_ENST00000440411.3_Missense_Mutation_p.R859C|PAN2_ENST00000257931.5_Missense_Mutation_p.R862C|PAN2_ENST00000548043.1_Missense_Mutation_p.R863C	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	863					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			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						CCCCCTGTGCGTGAGTCCAGG	0.592													50	86					0	0	0	0	A	56716461	G	A	56716461	3	1	408	1	0	0	0	0	1	0	0	0	11485	1145	40	1	1057	1	PAN2	12	56716461	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	86997	56716461	77135434	2532	80350											
PAN2	9924	broad.mit.edu	37	chr12	56722344	56722344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattctccaggctctggaTctgccgaatatcatcactgc	9	11	7	14	1	5	0	2	0	3	0	6	2	5	1	3	2	2	1	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56722344T>C	ENST00000425394.2	-	3	740	c.364A>G	c.(364-366)Atc>Gtc	p.I122V	PAN2_ENST00000440411.3_Missense_Mutation_p.I122V|PAN2_ENST00000257931.5_Missense_Mutation_p.I122V|PAN2_ENST00000548043.1_Missense_Mutation_p.I122V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	122					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			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						AGGCTCTGGATCTGCCGAATA	0.468													45	94					0	0	0	0	C	56722344	T	C	56722344	3	2	408	1	0	0	0	0	1	0	0	0	11485	1435	50	5	3340	5	PAN2	12	56722344	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5883	56722344	77129551	2533	80351											
ATP5B	506	broad.mit.edu	37	chr12	57037293	57037293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccagcaaacacagagtaaCcaccatgggctttggcgaca	14	5	9	13	1	0	1	0	0	0	1	0	2	0	1	3	2	3	3	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57037293C>T	ENST00000262030.3	-	5	736	c.686G>A	c.(685-687)gGt>gAt	p.G229D	ATP5B_ENST00000552919.1_Missense_Mutation_p.G229D	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	229					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACAGAGTAACCACCATGGGC	0.433													32	116					0	0	0	0	T	57037293	C	T	57037293	3	4	408	1	0	0	0	0	1	0	0	0	1152	507	18	4	927	4	ATP5B	12	57037293	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	314949	57037293	76814602	2534	80352											
GPR182	11318	broad.mit.edu	37	chr12	57389733	57389733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcctgccggctgcggcAgccaggacaacccaagagcc	10	2	13	16	2	0	1	0	0	0	1	0	3	0	2	5	3	6	2	5	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57389733A>G	ENST00000300098.1	+	2	959	c.740A>G	c.(739-741)cAg>cGg	p.Q247R		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	247						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CGGCTGCGGCAGCCAGGACAA	0.647													25	79					0	0	0	0	G	57389733	A	G	57389733	3	3	408	1	0	0	0	0	1	0	0	0	6726	188	7	5	742	5	GPR182	12	57389733	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	352440	57389733	76462162	2535	80353											
ZBTB39	9880	broad.mit.edu	37	chr12	57397891	57397891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaggagttggtcccagTggtaatgtctactgcattgt	9	12	12	8	0	1	1	0	0	1	1	2	2	2	2	1	3	2	3	1	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57397891T>C	ENST00000300101.2	-	2	896	c.811A>G	c.(811-813)Act>Gct	p.T271A		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTGGTCCCAGTGGTAATGTCT	0.517													39	132					0	0	0	0	C	57397891	T	C	57397891	3	2	408	1	0	0	0	0	1	0	0	0	17635	1696	59	5	1331	5	ZBTB39	12	57397891	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	8158	57397891	76454004	2536	80354											
LRP1	4035	broad.mit.edu	37	chr12	57573223	57573223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgacatcgacaacgTcacagtgctagactacgatg	11	7	11	12	4	1	1	1	0	0	1	2	4	1	1	1	1	4	1	1	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57573223T>C	ENST00000243077.3	+	29	5316	c.4850T>C	c.(4849-4851)gTc>gCc	p.V1617A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1617					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCGACAACGTCACAGTGCTA	0.582													5	96					0	0	0	0	C	57573223	T	C	57573223	3	2	408	1	0	0	0	0	1	0	0	0	9015	1667	58	5	4964	5	LRP1	12	57573223	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	175332	57573223	76278672	2537	80355											
MBD6	114785	broad.mit.edu	37	chr12	57920551	57920551	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggatgcttggggccttGcctctccctctgagtctggg	2	12	14	13	0	3	1	0	1	3	0	4	2	3	2	4	4	2	1	4	4	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57920551G>A	ENST00000355673.3	+	7	1979	c.1623G>A	c.(1621-1623)ttG>ttA	p.L541L	MBD6_ENST00000431731.2_Silent_p.L541L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	541	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTGGGGCCTTGCCTCTCCCTC	0.627													27	86					0	0	0	0	A	57920551	G	A	57920551	2	1	408	1	0	0	0	0	0	0	0	1	9417	1310	46	4		4	MBD6	12	57920551	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	347328	57920551	75931344	2538	80356											
AGAP2	116986	broad.mit.edu	37	chr12	58125404	58125404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actatccaagcttcgtttctCggagtcactaccccgacgat	9	11	7	14	4	2	0	1	0	1	0	5	3	3	1	3	1	2	2	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:58125404C>T	ENST00000257897.3	-	9	1052	c.967G>A	c.(967-969)Gag>Aag	p.E323K	AGAP2_ENST00000547588.1_Missense_Mutation_p.E659K	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	659	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.E659K(1)|p.E323K(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CTTCGTTTCTCGGAGTCACTA	0.522													24	79					0	0	0	0	T	58125404	C	T	58125404	3	4	408	1	0	0	0	0	1	0	0	0	368	893	31	1	1647	1	AGAP2	12	58125404	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	204853	58125404	75726491	2539	80357											
SLC16A7	9194	broad.mit.edu	37	chr12	60173352	60173352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaggaaaatgcaaggcaGaagaccagagaatctgaacc	19	3	12	7	0	1	4	0	1	1	3	1	7	1	6	2	3	2	2	2	3	7	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:60173352G>C	ENST00000261187.4	+	5	1493	c.1329G>C	c.(1327-1329)caG>caC	p.Q443H	SLC16A7_ENST00000543448.1_Missense_Mutation_p.Q344H|SLC16A7_ENST00000547379.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000552024.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000552432.1_Missense_Mutation_p.Q443H	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	443						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATGCAAGGCAGAAGACCAGAG	0.433													15	26					0	0	0	0	C	60173352	G	C	60173352	3	2	408	1	0	0	0	0	1	0	0	0	14501	933	33	2	1343	2	SLC16A7	12	60173352	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2047948	60173352	73678543	2540	80358											
FAM19A2	338811	broad.mit.edu	37	chr12	62148730	62148730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacttgactgtttgtgacCgttcttctatcttgttctta	6	19	7	9	1	4	2	0	2	4	0	4	2	4	2	1	0	1	4	1	0	2	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:62148730C>T	ENST00000416284.3	-	3	1766	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	FAM19A2_ENST00000551619.1_Missense_Mutation_p.R61Q|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	61						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGTTTGTGACCGTTCTTCTAT	0.483													28	74					0	0	0	0	T	62148730	C	T	62148730	3	4	408	1	0	0	0	0	1	0	0	0	5575	652	23	1	225	1	FAM19A2	12	62148730	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1975378	62148730	71703165	2541	80359											
USP15	9958	broad.mit.edu	37	chr12	62786084	62786084	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaaagtgtggagtataaAcctcctaaaaaaccctttgt	15	11	7	8	0	0	1	0	1	0	0	1	2	1	2	3	1	2	1	3	1	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:62786084A>G	ENST00000280377.5	+	18	2395	c.2337A>G	c.(2335-2337)aaA>aaG	p.K779K	USP15_ENST00000393654.3_Silent_p.K754K|USP15_ENST00000353364.3_Silent_p.K750K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	779					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGGAGTATAAACCTCCTAAAA	0.308													6	35					0	0	0	0	G	62786084	A	G	62786084	2	3	408	1	0	0	0	0	0	0	0	1	17142	40	2	5		5	USP15	12	62786084	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	637354	62786084	71065811	2542	80360											
DPY19L2	283417	broad.mit.edu	37	chr12	64061862	64061862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgagagtggttctgctggaGaaccgccgcgcctgcagttc	6	8	14	13	4	1	2	0	0	1	2	2	4	1	2	4	2	3	4	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:64061862G>C	ENST00000324472.4	-	1	495	c.312C>G	c.(310-312)ttC>ttG	p.F104L	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	104					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCTGCTGGAGAACCGCCGCG	0.592													54	115					0	0	0	0	C	64061862	G	C	64061862	3	2	408	1	0	0	0	0	1	0	0	0	4777	933	33	2	2052	2	DPY19L2	12	64061862	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1275778	64061862	69790033	2543	80361											
SRGAP1	57522	broad.mit.edu	37	chr12	64458997	64458997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctcaaaatcgagaatgaaGaggtgagcatgcgttcgtcc	12	8	12	9	4	1	4	1	2	0	2	4	5	2	4	1	1	2	3	1	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:64458997G>C	ENST00000355086.3	+	8	1647	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	SRGAP1_ENST00000357825.3_Missense_Mutation_p.E375Q|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E335Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	375					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CGAGAATGAAGAGGTGAGCAT	0.488													8	17					0	0	0	0	C	64458997	G	C	64458997	3	2	408	1	0	0	0	0	1	0	0	0	15235	943	33	2	1153	2	SRGAP1	12	64458997	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	397135	64458997	69392898	2544	80362											
C12orf56	115749	broad.mit.edu	37	chr12	64784234	64784234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttggacaccacgatgcatgGctcgtaggcgcggaccgcgt	7	7	15	12	6	0	0	0	0	0	0	1	3	0	2	2	4	1	4	2	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:64784234G>A	ENST00000543942.2	-	1	738	c.112C>T	c.(112-114)Cca>Tca	p.P38S	C12orf56_ENST00000333722.5_Missense_Mutation_p.P38S|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	38										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACGATGCATGGCTCGTAGGCG	0.642													5	148					0	0	0	0	A	64784234	G	A	64784234	3	1	408	1	0	0	0	0	1	0	0	0	1712	1203	42	4	1808	4	C12orf56	12	64784234	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	325237	64784234	69067661	2545	80363											
TBK1	29110	broad.mit.edu	37	chr12	64891804	64891804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagaacttgctgaaaataAccacattttagaaaggtgag	18	10	8	5	0	0	4	0	2	0	2	0	4	0	4	1	1	3	1	1	1	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:64891804A>G	ENST00000331710.5	+	20	2462	c.2123A>G	c.(2122-2124)aAc>aGc	p.N708S		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	708					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GCTGAAAATAACCACATTTTA	0.313													8	52					0	0	0	0	G	64891804	A	G	64891804	3	3	408	1	0	0	0	0	1	0	0	0	15731	43	2	5	2197	5	TBK1	12	64891804	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	107570	64891804	68960091	2546	80364											
DYRK2	8445	broad.mit.edu	37	chr12	68051507	68051507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgaatcctggaacacctgCggaagcaggacaaggataac	14	5	11	11	2	0	0	0	0	0	0	2	5	2	4	3	4	4	1	3	4	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:68051507C>T	ENST00000344096.3	+	3	1233	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	DYRK2_ENST00000393555.3_Missense_Mutation_p.R201W	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	274	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GGAACACCTGCGGAAGCAGGA	0.522													26	152					0	0	0	0	T	68051507	C	T	68051507	3	4	408	1	0	0	0	0	1	0	0	0	4892	759	27	1	830	1	DYRK2	12	68051507	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3159703	68051507	65800388	2547	80365											
FRS2	10818	broad.mit.edu	37	chr12	69968254	69968254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaactgcattattaaactAtgaaaatctaccatctttgc	16	13	4	8	0	2	2	0	1	2	1	2	2	2	2	1	0	5	1	1	0	9	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:69968254A>G	ENST00000299293.2	+	10	1556	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C	FRS2_ENST00000549921.1_Missense_Mutation_p.Y349C|FRS2_ENST00000397997.2_Missense_Mutation_p.Y349C|FRS2_ENST00000550389.1_Missense_Mutation_p.Y349C	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	349					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATTAAACTATGAAAATCTA	0.458													4	138					0	0	0	0	G	69968254	A	G	69968254	3	3	408	1	0	0	0	0	1	0	0	0	6109	449	16	5	1064	5	FRS2	12	69968254	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1916747	69968254	63883641	2548	80366											
BEST3	144453	broad.mit.edu	37	chr12	70049492	70049492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctggaggggtgttcgtggGcactcaggaaccgcttgact	6	9	17	9	2	1	1	1	1	0	0	2	3	1	3	1	6	1	4	1	6	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:70049492G>A	ENST00000330891.5	-	10	1428	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	BEST3_ENST00000553096.1_Missense_Mutation_p.A295V|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.A188V	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	401						chloride channel complex|plasma membrane	chloride channel activity	p.A188V(1)|p.A401V(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGTTCGTGGGCACTCAGGAA	0.562													45	212					0	0	0	0	A	70049492	G	A	70049492	3	1	408	1	0	0	0	0	1	0	0	0	1410	1203	42	4	808	4	BEST3	12	70049492	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	81238	70049492	63802403	2549	80367											
CNOT2	4848	broad.mit.edu	37	chr12	70723272	70723272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcgcagcttatcacaagGcactcagttaccgagccacg	13	7	8	13	3	2	0	2	0	0	0	3	1	2	0	2	1	3	4	2	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:70723272G>A	ENST00000229195.3	+	5	887	c.308G>A	c.(307-309)gGc>gAc	p.G103D	CNOT2_ENST00000418359.3_Missense_Mutation_p.G103D|CNOT2_ENST00000548230.1_3'UTR	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	103					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.G103D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TTATCACAAGGCACTCAGTTA	0.458													17	78					0	0	0	0	A	70723272	G	A	70723272	3	1	408	1	0	0	0	0	1	0	0	0	3649	1203	42	4	322	4	CNOT2	12	70723272	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	673780	70723272	63128623	2550	80368											
CNOT2	4848	broad.mit.edu	37	chr12	70724105	70724105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaggaatatgatgaaccActcccaggttggtcagggca	11	9	11	10	0	1	2	1	2	0	0	3	3	3	3	3	4	1	2	3	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:70724105A>G	ENST00000229195.3	+	6	1004	c.425A>G	c.(424-426)cAc>cGc	p.H142R	CNOT2_ENST00000418359.3_Missense_Mutation_p.H142R|CNOT2_ENST00000548230.1_3'UTR	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	142					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATGATGAACCACTCCCAGGTT	0.408													29	135					0	0	0	0	G	70724105	A	G	70724105	3	3	408	1	0	0	0	0	1	0	0	0	3649	159	6	5	443	5	CNOT2	12	70724105	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	833	70724105	63127790	2551	80369											
KCNMB4	27345	broad.mit.edu	37	chr12	70760631	70760631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcatcttcggcttctgctgGctgagtcccgcgctgcagga	4	12	12	13	3	3	1	1	1	2	0	5	2	4	2	1	3	2	5	1	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:70760631G>T	ENST00000258111.4	+	1	576	c.117G>T	c.(115-117)tgG>tgT	p.W39C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	39					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTTCTGCTGGCTGAGTCCCG	0.602													9	78					1.12685e-05	1.15187e-05	1	0	T	70760631	G	T	70760631	3	4	408	1	0	0	0	0	1	0	0	0	8130	1212	42	4	119	4	KCNMB4	12	70760631	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	36526	70760631	63091264	2552	80370											
TRHDE	29953	broad.mit.edu	37	chr12	72866908	72866908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgaaggaagggtttgCtcactactttgaatttgttg	8	15	13	5	0	1	2	1	2	0	0	1	3	1	3	0	3	2	4	0	3	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:72866908C>T	ENST00000261180.4	+	5	1493	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	466					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAAGGGTTTGCTCACTACTTT	0.408													6	227					0	0	0	0	T	72866908	C	T	72866908	3	4	408	1	0	0	0	0	1	0	0	0	16574	797	28	4	1415	4	TRHDE	12	72866908	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2106277	72866908	60984987	2553	80371											
BBS10	79738	broad.mit.edu	37	chr12	76741421	76741421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttccaatgccttccatggGtttgaatgttttcacacatc	8	17	6	10	0	1	1	1	1	0	0	4	1	3	1	3	1	1	2	3	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:76741421G>C	ENST00000393262.3	-	2	427	c.344C>G	c.(343-345)aCc>aGc	p.T115S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	115					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CCTTCCATGGGTTTGAATGTT	0.383									Bardet-Biedl syndrome				17	82					0	0	0	0	C	76741421	G	C	76741421	3	2	408	1	0	0	0	0	1	0	0	0	1340	1261	44	4	1831	4	BBS10	12	76741421	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3874513	76741421	57110474	2554	80372											
NAV3	89795	broad.mit.edu	37	chr12	78362385	78362385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaacaccatcaacaacagTactatcagtccttggtggaa	16	8	6	11	0	2	0	2	0	0	0	3	1	3	1	2	2	5	1	2	2	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:78362385T>C	ENST00000397909.2	+	5	747	c.574T>C	c.(574-576)Tac>Cac	p.Y192H	NAV3_ENST00000228327.6_Missense_Mutation_p.Y192H|NAV3_ENST00000536525.2_Missense_Mutation_p.Y192H|NAV3_ENST00000266692.7_Missense_Mutation_p.Y192H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	192						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAACAACAGTACTATCAGTC	0.448										HNSCC(70;0.22)			6	85					0	0	0	0	C	78362385	T	C	78362385	3	2	408	1	0	0	0	0	1	0	0	0	10255	1638	57	5	592	5	NAV3	12	78362385	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1620964	78362385	55489510	2555	80373											
LIN7A	8825	broad.mit.edu	37	chr12	81205381	81205381	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccagaacttttggggTgtatcgcaccaccagcttga	8	13	9	11	1	1	2	0	1	1	1	3	2	2	2	3	2	2	3	3	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:81205381T>A	ENST00000552864.1	-	5	767	c.565A>T	c.(565-567)Acc>Tcc	p.T189S		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	189	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ACTTTTGGGGTGTATCGCACC	0.493													7	70					0	0	0	0	A	81205381	T	A	81205381	3	1	408	1	0	0	0	0	1	0	0	0	8865	1696	59	5	140	5	LIN7A	12	81205381	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2842996	81205381	52646514	2556	80374											
TMTC2	160335	broad.mit.edu	37	chr12	83358812	83358812	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatgcagagggctactTctccaggagaacagcaggtt	10	9	11	11	0	2	2	1	0	1	2	4	3	3	2	2	3	4	4	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:83358812T>C	ENST00000549919.1	+	6	3395	c.1590T>C	c.(1588-1590)ctT>ctC	p.L530L	TMTC2_ENST00000548305.1_Silent_p.L536L|TMTC2_ENST00000321196.3_Silent_p.L536L			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	536						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAGGGCTACTTCTCCAGGAGA	0.343													22	70					0	0	0	0	C	83358812	T	C	83358812	2	2	408	1	0	0	0	0	0	0	0	1	16355	1770	62	5		5	TMTC2	12	83358812	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2153431	83358812	50493083	2557	80375											
MGAT4C	25834	broad.mit.edu	37	chr12	86374168	86374168	+	Frame_Shift_Del	DEL	T	T	-																															gtctcaagtaaatagtttccTttttttcgctttactgaaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:86374168delT	ENST00000604798.1	-	8	1540	c.336delA	c.(334-336)aafs	p.K112fs	MGAT4C_ENST00000548651.1_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000552808.2_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000332156.1_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000393205.2_Frame_Shift_Del_p.K141fs|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Frame_Shift_Del_p.K112fs			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	112					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATAGTTTCCTTTTTTTCGCT	0.328													10	57	---	---	---	---					-	86374168	T	-	86374168	7	5	408	1	0	1	0	1	0	0	0	0	9616	1606	56	0	1104	0	MGAT4C	12	86374168	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	3015356	86374168	47477727	2558	80376											
C12orf50	160419	broad.mit.edu	37	chr12	88379796	88379796	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttattattgcggtgataActcattttattttggggtct	7	22	8	4	1	2	1	1	1	1	0	2	1	2	1	0	3	2	0	0	3	4	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:88379796A>G	ENST00000298699.2	-	11	1137	c.957T>C	c.(955-957)agT>agC	p.S319S	C12orf50_ENST00000550553.1_Silent_p.S280S	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	319										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCGGTGATAACTCATTTTAT	0.438													35	131					0	0	0	0	G	88379796	A	G	88379796	2	3	408	1	0	0	0	0	0	0	0	1	1707	40	2	5		5	C12orf50	12	88379796	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2005628	88379796	45472099	2559	80377											
KITLG	4254	broad.mit.edu	37	chr12	88910239	88910239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtaaagagcctgggtTctgggctcttgaatgatttt	9	13	13	6	0	2	3	0	2	2	1	2	4	2	4	1	3	1	3	1	3	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:88910239T>C	ENST00000347404.5	-	5	964	c.392A>G	c.(391-393)gAa>gGa	p.E131G	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000228280.5_Missense_Mutation_p.E131G|KITLG_ENST00000357116.4_Intron	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	131					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GAGCCTGGGTTCTGGGCTCTT	0.343									Testicular Cancer, Familial Clustering of				19	55					0	0	0	0	C	88910239	T	C	88910239	3	2	408	1	0	0	0	0	1	0	0	0	8382	1783	62	5	449	5	KITLG	12	88910239	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	530443	88910239	44941656	2560	80378											
ATP2B1	490	broad.mit.edu	37	chr12	90028906	90028906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctctaaactgtttttcctTactccagtcattgaaagctg	10	15	5	11	0	2	1	1	1	1	0	4	1	4	1	3	0	3	2	3	0	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:90028906T>C	ENST00000428670.3	-	4	985	c.529A>G	c.(529-531)Aag>Gag	p.K177E	ATP2B1_ENST00000348959.3_Missense_Mutation_p.K177E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K177E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K177E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	177					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGTTTTTCCTTACTCCAGTCA	0.448													34	137					0	0	0	0	C	90028906	T	C	90028906	3	2	408	1	0	0	0	0	1	0	0	0	1143	1763	61	5	3363	5	ATP2B1	12	90028906	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1118667	90028906	43822989	2561	80379											
BTG1	694	broad.mit.edu	37	chr12	92539207	92539207	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaaggtctgcagctgTcgctcgctcgtgagcccctt	4	11	13	13	3	1	2	0	2	1	0	4	2	1	2	2	2	3	5	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:92539207T>C	ENST00000256015.3	-	1	466	c.105A>G	c.(103-105)cgA>cgG	p.R35R		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	35					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				TCTGCAGCTGTCGCTCGCTCG	0.667			T	MYC	BCLL								13	66					0	0	0	0	C	92539207	T	C	92539207	2	2	408	1	0	0	0	0	0	0	0	1	1562	1654	58	5		5	BTG1	12	92539207	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2510301	92539207	41312688	2562	80380											
TMCC3	57458	broad.mit.edu	37	chr12	94975823	94975823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggtggagtaagtgagacCcctggcatgcccgatttgct	9	9	13	10	1	0	1	0	1	0	1	0	4	0	2	3	3	2	3	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:94975823C>T	ENST00000261226.4	-	2	701	c.570G>A	c.(568-570)ggG>ggA	p.G190G	TMCC3_ENST00000551457.1_Silent_p.G159G	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	190						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TAAGTGAGACCCCTGGCATGC	0.498													43	158					0	0	0	0	T	94975823	C	T	94975823	2	4	408	1	0	0	0	0	0	0	0	1	16088	610	22	4		4	TMCC3	12	94975823	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2436616	94975823	38876072	2563	80381											
FGD6	55785	broad.mit.edu	37	chr12	95486519	95486519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtctccaggtgagagtgaAttcgcttgtgcagatcatac	9	12	11	9	2	2	3	1	2	1	2	5	4	2	3	1	1	2	2	1	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:95486519A>G	ENST00000343958.4	-	16	3926	c.3703T>C	c.(3703-3705)Ttc>Ctc	p.F1235L	FGD6_ENST00000546711.1_Missense_Mutation_p.F1235L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1235					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGAGAGTGAATTCGCTTGTG	0.488													12	50					0	0	0	0	G	95486519	A	G	95486519	3	3	408	1	0	0	0	0	1	0	0	0	5882	101	4	5	613	5	FGD6	12	95486519	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	510696	95486519	38365376	2564	80382											
LTA4H	4048	broad.mit.edu	37	chr12	96394781	96394781	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtctttaatccacttttaAgtctttccccaccagcattg	9	15	5	12	0	2	0	0	0	2	0	4	0	4	0	4	1	1	1	4	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:96394781A>G	ENST00000228740.2	-	19	1963	c.1822T>C	c.(1822-1824)Tta>Cta	p.L608L	LTA4H_ENST00000413268.2_3'UTR|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000552789.1_Silent_p.L584L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	608					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TCCACTTTTAAGTCTTTCCCC	0.388													17	110					0	0	0	0	G	96394781	A	G	96394781	2	3	408	1	0	0	0	0	0	0	0	1	9133	69	3	5		5	LTA4H	12	96394781	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	908262	96394781	37457114	2565	80383											
ELK3	2004	broad.mit.edu	37	chr12	96640943	96640943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcaggcctgtactcgTccttcaccattaattccctg	7	13	5	16	1	2	0	2	0	0	0	6	0	5	0	5	1	1	1	5	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:96640943T>C	ENST00000228741.3	+	3	759	c.433T>C	c.(433-435)Tcc>Ccc	p.S145P	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	145					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCTGTACTCGTCCTTCACCAT	0.627													6	54					0	0	0	0	C	96640943	T	C	96640943	3	2	408	1	0	0	0	0	1	0	0	0	5098	1667	58	5	439	5	ELK3	12	96640943	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	246162	96640943	37210952	2566	80384											
TMPO	7112	broad.mit.edu	37	chr12	98941405	98941405	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggccattagaactcagTgatttcaggatggaggagtc	10	9	14	8	1	2	2	2	1	0	1	3	5	2	5	2	5	1	0	2	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:98941405T>C	ENST00000556029.1	+	9	1490	c.1134T>C	c.(1132-1134)agT>agC	p.S378S	TMPO_ENST00000393053.2_Silent_p.S269S|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Silent_p.S338S	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	378	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAGAACTCAGTGATTTCAGGA	0.428													9	93					0	0	0	0	C	98941405	T	C	98941405	2	2	408	1	0	0	0	0	0	0	0	1	16331	1693	59	5		5	TMPO	12	98941405	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2300462	98941405	34910490	2567	80385											
APAF1	317	broad.mit.edu	37	chr12	99077025	99077025	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcatcttctcttagcCactgggtcaagtgactgctt	8	14	8	11	0	5	1	3	1	2	0	6	1	5	1	1	1	2	1	1	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:99077025C>A	ENST00000357310.1	+	15	2728	c.2151C>A	c.(2149-2151)gcC>gcA	p.A717A	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Silent_p.A717A|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Silent_p.A717A|APAF1_ENST00000547045.1_Silent_p.A717A|APAF1_ENST00000359972.2_Silent_p.A706A|APAF1_ENST00000549007.1_Silent_p.A717A|APAF1_ENST00000550527.1_Silent_p.A706A	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	717					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTCTCTTAGCCACTGGGTCAA	0.398													34	159					2.75727e-19	2.90337e-19	1	0	A	99077025	C	A	99077025	2	1	408	1	0	0	0	0	0	0	0	1	756	581	21	4		4	APAF1	12	99077025	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	135620	99077025	34774870	2568	80386											
ANKS1B	56899	broad.mit.edu	37	chr12	99640329	99640329	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatccactcctggttgaTcttgtgccaacaatggtatg	9	12	10	10	1	1	2	0	1	1	1	3	3	3	2	3	2	2	2	3	2	3	3	rs144139453	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:99640329T>A	ENST00000547776.2	-	13	2069	c.2070A>T	c.(2068-2070)agA>agT	p.R690S	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R690S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R270S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	690						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCCTGGTTGATCTTGTGCCAA	0.443													13	52					0	0	0	0	A	99640329	T	A	99640329	3	1	408	1	0	0	0	0	1	0	0	0	688	1432	50	5	2020	5	ANKS1B	12	99640329	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	563304	99640329	34211566	2569	80387											
SCYL2	55681	broad.mit.edu	37	chr12	100709378	100709378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccttgtttgacttcagaaTttgtaaaccctgacatggta	10	15	8	8	0	1	3	1	2	0	1	1	3	1	3	2	1	2	3	2	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:100709378T>C	ENST00000360820.2	+	9	1575	c.1138T>C	c.(1138-1140)Ttt>Ctt	p.F380L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	380					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GACTTCAGAATTTGTAAACCC	0.308													28	120					0	0	0	0	C	100709378	T	C	100709378	3	2	408	1	0	0	0	0	1	0	0	0	14035	1493	52	5	1168	5	SCYL2	12	100709378	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1069049	100709378	33142517	2570	80388											
NR1H4	9971	broad.mit.edu	37	chr12	100955744	100955744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgactcaagaggagtatgCtctgcttacagcaattgtta	13	12	9	7	0	2	2	1	1	1	1	2	3	2	3	0	1	4	5	0	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:100955744C>T	ENST00000548884.1	+	10	1689	c.1148C>T	c.(1147-1149)gCt>gTt	p.A383V	NR1H4_ENST00000188403.7_Missense_Mutation_p.A393V|NR1H4_ENST00000549996.1_Missense_Mutation_p.A336V|NR1H4_ENST00000551379.1_Missense_Mutation_p.A397V|NR1H4_ENST00000392986.3_Missense_Mutation_p.A387V	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	397	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GAGGAGTATGCTCTGCTTACA	0.323													4	81					0	0	0	0	T	100955744	C	T	100955744	3	4	408	1	0	0	0	0	1	0	0	0	10690	797	28	4	1178	4	NR1H4	12	100955744	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	246366	100955744	32896151	2571	80389											
SLC5A8	160728	broad.mit.edu	37	chr12	101560442	101560442	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaattccaacccatagagaAatggcaaatccagccatcag	16	6	6	13	0	1	1	1	0	0	1	3	2	3	1	5	1	2	1	5	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:101560442A>G	ENST00000536262.2	-	12	1914	c.1356T>C	c.(1354-1356)atT>atC	p.I452I		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	452					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCCATAGAGAAATGGCAAATC	0.378													26	29					0	0	0	0	G	101560442	A	G	101560442	2	3	408	1	0	0	0	0	0	0	0	1	14759	10	1	5		5	SLC5A8	12	101560442	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	604698	101560442	32291453	2572	80390											
UTP20	27340	broad.mit.edu	37	chr12	101679591	101679591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttggtgtatcaccaaaaCgagatagttcagagtttgaa	14	11	10	6	1	2	3	2	1	0	2	2	4	2	3	1	1	1	4	1	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:101679591C>T	ENST00000261637.4	+	4	432	c.258C>T	c.(256-258)aaC>aaT	p.N86N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	86					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCACCAAAACGAGATAGTTC	0.363													27	106					0	0	0	0	T	101679591	C	T	101679591	2	4	408	1	0	0	0	0	0	0	0	1	17195	535	19	1		1	UTP20	12	101679591	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	119149	101679591	32172304	2573	80391											
UTP20	27340	broad.mit.edu	37	chr12	101750762	101750762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaagaaatcagagacattGcacgcagcactcttgcgaaa	15	6	8	12	2	2	2	1	0	1	2	2	4	2	2	1	0	3	3	1	0	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:101750762G>T	ENST00000261637.4	+	43	5767	c.5593G>T	c.(5593-5595)Gca>Tca	p.A1865S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1865					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAGAGACATTGCACGCAGCAC	0.388													15	78					2.32078e-09	2.39896e-09	1	0	T	101750762	G	T	101750762	3	4	408	1	0	0	0	0	1	0	0	0	17195	1319	46	4	5763	4	UTP20	12	101750762	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	71171	101750762	32101133	2574	80392											
UTP20	27340	broad.mit.edu	37	chr12	101757406	101757406	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagaaggaagtaaagcAgatcctctccaaagtcatgg	16	7	11	7	0	2	3	1	1	1	2	4	5	3	4	2	2	1	2	2	2	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:101757406A>G	ENST00000261637.4	+	45	6017	c.5843A>G	c.(5842-5844)cAg>cGg	p.Q1948R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1948					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAAGTAAAGCAGATCCTCTCC	0.388													19	62					0	0	0	0	G	101757406	A	G	101757406	3	3	408	1	0	0	0	0	1	0	0	0	17195	188	7	5	6021	5	UTP20	12	101757406	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6644	101757406	32094489	2575	80393											
GNPTAB	79158	broad.mit.edu	37	chr12	102142891	102142891	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttacctgctcagcaaaAaatgagaatatagtaaacat	20	9	5	7	0	1	1	1	1	0	1	1	2	1	1	1	0	5	3	1	0	10	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:102142891A>G	ENST00000299314.7	-	20	3943	c.3681T>C	c.(3679-3681)ttT>ttC	p.F1227F		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1227					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GCTCAGCAAAAAATGAGAATA	0.323													19	119					0	0	0	0	G	102142891	A	G	102142891	2	3	408	1	0	0	0	0	0	0	0	1	6596	11	1	5		5	GNPTAB	12	102142891	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	385485	102142891	31709004	2576	80394											
GNPTAB	79158	broad.mit.edu	37	chr12	102154939	102154939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcgtgaattctggtaGccagtgttcggatttctctg	6	15	12	8	2	2	1	0	1	2	0	5	2	2	2	1	2	1	4	1	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:102154939G>A	ENST00000299314.7	-	15	3363	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1034	EF-hand.				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AATTCTGGTAGCCAGTGTTCG	0.393													10	79					0	0	0	0	A	102154939	G	A	102154939	3	1	408	1	0	0	0	0	1	0	0	0	6596	971	34	4	697	4	GNPTAB	12	102154939	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	12048	102154939	31696956	2577	80395											
STAB2	55576	broad.mit.edu	37	chr12	104064492	104064492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgcagatagcctcggcGgcaacgggacatgcatttgt	9	9	14	9	3	0	1	0	0	0	1	1	2	0	2	1	3	4	3	1	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104064492G>A	ENST00000388887.2	+	22	2482	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	760	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TAGCCTCGGCGGCAACGGGAC	0.507													11	24					0	0	0	0	A	104064492	G	A	104064492	3	1	408	1	0	0	0	0	1	0	0	0	15328	1116	39	1	2364	1	STAB2	12	104064492	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1909553	104064492	29787403	2578	80396											
NT5DC3	51559	broad.mit.edu	37	chr12	104186974	104186974	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagaagtttggcttctcAgcctgaacaatgaccacatc	13	11	7	10	0	1	3	1	2	1	1	3	3	1	3	2	1	2	2	2	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104186974A>G	ENST00000392876.3	-	9	1027	c.987T>C	c.(985-987)gcT>gcC	p.A329A		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	329							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TTGGCTTCTCAGCCTGAACAA	0.428													109	187					0	0	0	0	G	104186974	A	G	104186974	2	3	408	1	0	0	0	0	0	0	0	1	10763	175	7	5		5	NT5DC3	12	104186974	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	122482	104186974	29664921	2579	80397											
HSP90B1	7184	broad.mit.edu	37	chr12	104327925	104327925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgtcggtttctattcCgccttccttgtagcagataa	6	17	9	9	2	1	1	0	0	1	1	4	1	3	1	3	2	1	3	3	2	3	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104327925C>T	ENST00000299767.5	+	5	785	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	201					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTTTCTATTCCGCCTTCCTTG	0.423													18	100					0	0	0	0	T	104327925	C	T	104327925	2	4	408	1	0	0	0	0	0	0	0	1	7455	639	23	1		1	HSP90B1	12	104327925	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	140951	104327925	29523970	2580	80398											
TDG	6996	broad.mit.edu	37	chr12	104376936	104376936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatttcgtgaaggaggaCgtattctagtacagaaatta	16	11	10	4	2	1	3	0	1	1	2	2	5	1	5	0	2	1	2	0	2	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104376936C>T	ENST00000392872.3	+	6	871	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	TDG_ENST00000266775.9_Missense_Mutation_p.R209C|TDG_ENST00000544861.1_Missense_Mutation_p.R70C|TDG_ENST00000542036.1_Intron	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	213					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGAAGGAGGACGTATTCTAGT	0.249								Base excision repair (BER), DNA glycosylases					47	268					0	0	0	0	T	104376936	C	T	104376936	3	4	408	1	0	0	0	0	1	0	0	0	15819	536	19	1	659	1	TDG	12	104376936	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	49011	104376936	29474959	2581	80399											
TXNRD1	7296	broad.mit.edu	37	chr12	104705131	104705131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgaagatcttcccaagTcctatgactatgaccttatc	10	12	6	13	0	1	4	0	3	1	1	4	4	3	4	4	0	0	0	4	0	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104705131T>C	ENST00000526691.1	+	3	640	c.184T>C	c.(184-186)Tcc>Ccc	p.S62P	TXNRD1_ENST00000525566.1_Missense_Mutation_p.S160P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.S10P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.S62P|TXNRD1_ENST00000429002.2_Missense_Mutation_p.S160P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.S60P|TXNRD1_ENST00000427956.1_Missense_Mutation_p.S125P|TXNRD1_ENST00000526950.1_Missense_Mutation_p.S79P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.S54P|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Missense_Mutation_p.S10P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.S109P|TXNRD1_ENST00000503506.2_Missense_Mutation_p.S10P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.S54P	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	160	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TCTTCCCAAGTCCTATGACTA	0.438													8	24					0	0	0	0	C	104705131	T	C	104705131	3	2	408	1	0	0	0	0	1	0	0	0	16903	1667	58	5	510	5	TXNRD1	12	104705131	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	328195	104705131	29146764	2582	80400											
KIAA1033	23325	broad.mit.edu	37	chr12	105534990	105534990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacttcaagtagtcatgAaaaaactggatcttattagt	14	14	6	7	0	3	1	2	1	1	0	4	2	4	2	1	1	1	1	1	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:105534990A>G	ENST00000332180.5	+	18	1840	c.1753A>G	c.(1753-1755)Aaa>Gaa	p.K585E		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	585					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AGTAGTCATGAAAAAACTGGA	0.373													7	134					0	0	0	0	G	105534990	A	G	105534990	3	3	408	1	0	0	0	0	1	0	0	0	8257	247	9	5	1823	5	KIAA1033	12	105534990	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	829859	105534990	28316905	2583	80401											
POLR3B	55703	broad.mit.edu	37	chr12	106850954	106850954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatataaaaatgctaaatgtAcgttgaaacgatacaccaat	19	11	5	6	2	0	1	0	1	0	0	0	2	0	1	1	0	4	3	1	0	11	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:106850954A>G	ENST00000228347.4	+	21	2554	c.2332A>G	c.(2332-2334)Acg>Gcg	p.T778A	POLR3B_ENST00000539066.1_Missense_Mutation_p.T720A	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	778					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGCTAAATGTACGTTGAAACG	0.408													41	105					0	0	0	0	G	106850954	A	G	106850954	3	3	408	1	0	0	0	0	1	0	0	0	12301	391	14	5	2414	5	POLR3B	12	106850954	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1315964	106850954	27000941	2584	80402											
RFX4	5992	broad.mit.edu	37	chr12	107155092	107155092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccctcagccaacacgtgcTacacaagcccgtctgtgcat	9	8	8	16	2	2	0	1	0	1	0	2	0	2	0	3	0	7	2	3	0	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:107155092T>C	ENST00000392842.1	+	18	2467	c.2053T>C	c.(2053-2055)Tac>Cac	p.Y685H	RFX4_ENST00000357881.4_Missense_Mutation_p.Y694H|RFX4_ENST00000229387.5_Missense_Mutation_p.Y591H|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	685					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAACACGTGCTACACAAGCCC	0.537													4	205					0	0	0	0	C	107155092	T	C	107155092	3	2	408	1	0	0	0	0	1	0	0	0	13347	1522	53	5	2328	5	RFX4	12	107155092	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	304138	107155092	26696803	2585	80403											
RFX4	5992	broad.mit.edu	37	chr12	107155231	107155231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcaacggagaggcctctaCaggatgggctaaatgactgc	12	7	12	10	1	2	2	1	1	1	1	2	4	2	3	1	4	3	1	1	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:107155231C>T	ENST00000392842.1	+	18	2606	c.2192C>T	c.(2191-2193)aCa>aTa	p.T731I	RFX4_ENST00000357881.4_Missense_Mutation_p.T740I|RFX4_ENST00000229387.5_Missense_Mutation_p.T637I|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	731					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGGCCTCTACAGGATGGGCT	0.388													12	40					0	0	0	0	T	107155231	C	T	107155231	3	4	408	1	0	0	0	0	1	0	0	0	13347	478	17	4	2467	4	RFX4	12	107155231	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	139	107155231	26696664	2586	80404											
MTERFD3	80298	broad.mit.edu	37	chr12	107372404	107372404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtataggtgaagcatgctAagaaaggtctgtattttgga	12	14	12	3	0	1	2	0	1	1	1	1	3	1	3	0	3	2	4	0	3	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:107372404A>G	ENST00000552029.1	-	2	2157	c.89T>C	c.(88-90)tTa>tCa	p.L30S	MTERFD3_ENST00000392830.2_Missense_Mutation_p.L30S|MTERFD3_ENST00000240050.4_Missense_Mutation_p.L30S|C12orf23_ENST00000551237.1_3'UTR			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GAAGCATGCTAAGAAAGGTCT	0.413													23	77					0	0	0	0	G	107372404	A	G	107372404	3	3	408	1	0	0	0	0	1	0	0	0	9991	372	13	5	1072	5	MTERFD3	12	107372404	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	217173	107372404	26479491	2587	80405											
SSH1	54434	broad.mit.edu	37	chr12	109196115	109196115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctgagccctgcagttcCtccagattggatgcattcca	8	10	8	15	0	0	2	0	1	0	1	3	3	3	3	5	1	3	3	5	1	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:109196115C>A	ENST00000326495.5	-	11	1077	c.984G>T	c.(982-984)gaG>gaT	p.E328D	SSH1_ENST00000360239.3_Intron|SSH1_ENST00000326470.5_Missense_Mutation_p.E339D|SSH1_ENST00000551165.1_Missense_Mutation_p.E328D	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	328	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGCAGTTCCTCCAGATTGG	0.572													24	33					1.85244e-09	1.91616e-09	1	0	A	109196115	C	A	109196115	3	1	408	1	0	0	0	0	1	0	0	0	15274	680	24	4	2371	4	SSH1	12	109196115	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1823711	109196115	24655780	2588	80406											
ACACB	32	broad.mit.edu	37	chr12	109629715	109629715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacgtggccgatgcgatgTtcagaacgtgcatgacagat	11	9	13	8	4	1	4	1	2	0	2	1	6	1	4	1	1	4	2	1	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:109629715T>C	ENST00000338432.7	+	15	2478	c.2359T>C	c.(2359-2361)Ttc>Ctc	p.F787L	ACACB_ENST00000377848.3_Missense_Mutation_p.F787L|ACACB_ENST00000377854.5_Missense_Mutation_p.F787L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	787					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGATGCGATGTTCAGAACGTG	0.527													4	114					0	0	0	0	C	109629715	T	C	109629715	3	2	408	1	0	0	0	0	1	0	0	0	107	1725	60	5	2413	5	ACACB	12	109629715	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	433600	109629715	24222180	2589	80407											
ACACB	32	broad.mit.edu	37	chr12	109675039	109675039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggaacttaaccggatgCgtaacttcgatctgaccgcc	10	9	10	12	4	1	1	0	1	1	0	2	4	1	3	3	2	5	2	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:109675039C>T	ENST00000338432.7	+	34	4635	c.4516C>T	c.(4516-4518)Cgt>Tgt	p.R1506C	ACACB_ENST00000543201.1_Missense_Mutation_p.R172C|ACACB_ENST00000377848.3_Missense_Mutation_p.R1506C|ACACB_ENST00000377854.5_Missense_Mutation_p.R1436C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1506					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TAACCGGATGCGTAACTTCGA	0.547													64	110					0	0	0	0	T	109675039	C	T	109675039	3	4	408	1	0	0	0	0	1	0	0	0	107	768	27	1	4646	1	ACACB	12	109675039	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	45324	109675039	24176856	2590	80408											
UBE3B	89910	broad.mit.edu	37	chr12	109948151	109948151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtttgtcccacagagAacgccaagggtgagaccttg	9	11	12	9	1	0	2	0	1	0	2	1	4	1	2	3	1	1	2	3	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:109948151A>G	ENST00000342494.3	+	17	2339	c.1744A>G	c.(1744-1746)Aac>Gac	p.N582D	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.N582D|UBE3B_ENST00000280774.5_Missense_Mutation_p.N582D	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	582					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCCCACAGAGAACGCCAAGGG	0.582													7	16					0	0	0	0	G	109948151	A	G	109948151	3	3	408	1	0	0	0	0	1	0	0	0	16976	246	9	5	1802	5	UBE3B	12	109948151	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	273112	109948151	23903744	2591	80409											
TRPV4	59341	broad.mit.edu	37	chr12	110240845	110240845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgaactccctcatgttGccggtgcgctccgcgatgtc	6	12	10	13	4	1	1	1	1	0	0	4	2	3	1	3	1	3	2	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:110240845G>A	ENST00000418703.2	-	3	757	c.663C>T	c.(661-663)ggC>ggT	p.G221G	TRPV4_ENST00000544971.1_Silent_p.G221G|TRPV4_ENST00000346520.2_Silent_p.G221G|TRPV4_ENST00000392719.2_Silent_p.G221G|TRPV4_ENST00000537083.1_Silent_p.G221G|TRPV4_ENST00000541794.1_Silent_p.G221G|TRPV4_ENST00000536838.1_Silent_p.G187G|TRPV4_ENST00000261740.2_Silent_p.G221G	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	221					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCTCATGTTGCCGGTGCGCT	0.632													16	63					0	0	0	0	A	110240845	G	A	110240845	2	1	408	1	0	0	0	0	0	0	0	1	16693	1306	46	4		4	TRPV4	12	110240845	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	292694	110240845	23611050	2592	80410											
ATP2A2	488	broad.mit.edu	37	chr12	110783052	110783052	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgattggattttcttgcAgagtcatttcctacagtgta	9	18	8	6	0	2	2	1	1	1	1	3	3	3	3	1	1	2	2	1	1	2	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:110783052A>G	ENST00000395494.2	+	17	3089		c.e17-1		ATP2A2_ENST00000539276.2_Splice_Site|ATP2A2_ENST00000308664.6_Splice_Site			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2						ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATTTTCTTGCAGAGTCATTTC	0.483													51	200					0	0	0	0	G	110783052	A	G	110783052	5	3	408	1	0	0	0	0	0	0	1	0	1141	202	7	5	2676	5	ATP2A2	12	110783052	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	542207	110783052	23068843	2593	80411											
GPN3	51184	broad.mit.edu	37	chr12	110893704	110893704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatttctagagagatcatgGcactcagggctgccaagatg	12	9	12	8	0	3	3	2	0	1	3	3	5	3	3	1	2	1	2	1	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:110893704G>A	ENST00000543199.1	-	5	683	c.599C>T	c.(598-600)gCc>gTc	p.A200V	GPN3_ENST00000537466.2_Missense_Mutation_p.A171V|GPN3_ENST00000228827.3_Missense_Mutation_p.A161V	NM_001164372.1	NP_001157844.1	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3	161						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						AGAGATCATGGCACTCAGGGC	0.413													16	60					0	0	0	0	A	110893704	G	A	110893704	3	1	408	1	0	0	0	0	1	0	0	0	6668	1203	42	4	388	4	GPN3	12	110893704	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	110652	110893704	22958191	2594	80412											
BRAP	8315	broad.mit.edu	37	chr12	112097135	112097135	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatgtggccgcatattaaAcaaatccaaagattctgccg	13	10	7	11	2	1	1	0	0	1	1	2	1	2	1	4	1	2	1	4	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112097135A>G	ENST00000419234.4	-	8	1180	c.987T>C	c.(985-987)tgT>tgC	p.C329C	BRAP_ENST00000539060.1_Silent_p.C150C|BRAP_ENST00000327551.6_Silent_p.C299C	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	329					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGCATATTAAACAAATCCAAA	0.463													4	110					0	0	0	0	G	112097135	A	G	112097135	2	3	408	1	0	0	0	0	0	0	0	1	1505	41	2	5		5	BRAP	12	112097135	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1203431	112097135	21754760	2595	80413											
ACAD10	80724	broad.mit.edu	37	chr12	112182670	112182670	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagaagcttccccagctcaTacctcaaggggaggtctggt	9	8	11	13	0	3	1	2	0	1	1	4	2	4	2	4	4	3	2	4	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112182670T>A	ENST00000455480.2	+	14	2208	c.2031T>A	c.(2029-2031)caT>caA	p.H677Q	ACAD10_ENST00000392636.2_Missense_Mutation_p.H248Q|ACAD10_ENST00000549590.1_Missense_Mutation_p.H646Q|ACAD10_ENST00000313698.4_Missense_Mutation_p.H646Q|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	646							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCCAGCTCATACCTCAAGGG	0.577													29	87					0	0	0	0	A	112182670	T	A	112182670	3	1	408	1	0	0	0	0	1	0	0	0	108	1403	49	5	2081	5	ACAD10	12	112182670	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	85535	112182670	21669225	2596	80414											
ACAD10	80724	broad.mit.edu	37	chr12	112194271	112194271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctagagctgaagcaccgCatttagagccttggggctgc	10	8	13	10	1	0	3	0	1	0	2	0	3	0	3	2	2	5	5	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112194271C>T	ENST00000455480.2	+	22	3444	c.3267C>T	c.(3265-3267)cgC>cgT	p.R1089R	ACAD10_ENST00000313698.4_Silent_p.R1058R|RP11-162P23.2_ENST00000546840.2_Intron	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1058							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGAAGCACCGCATTTAGAGCC	0.622													11	28					0	0	0	0	T	112194271	C	T	112194271	2	4	408	1	0	0	0	0	0	0	0	1	108	697	25	4		4	ACAD10	12	112194271	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	11601	112194271	21657624	2597	80415											
RPL6	6128	broad.mit.edu	37	chr12	112843724	112843724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcttcttcttcttgaagTaagcatcagtaagatgtttt	10	16	8	7	0	4	2	1	1	3	1	4	2	4	2	0	0	2	6	0	0	3	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112843724T>C	ENST00000424576.2	-	6	832	c.647A>G	c.(646-648)tAc>tGc	p.Y216C	RPL6_ENST00000202773.9_Missense_Mutation_p.Y216C	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	216					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						CTTCTTGAAGTAAGCATCAGT	0.418													31	51					0	0	0	0	C	112843724	T	C	112843724	3	2	408	1	0	0	0	0	1	0	0	0	13683	1638	57	5	227	5	RPL6	12	112843724	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	649453	112843724	21008171	2598	80416											
PTPN11	5781	broad.mit.edu	37	chr12	112919948	112919948	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgcgtgttaggaacgTcaaagaaagcgccgctcatg	11	8	12	10	5	3	1	3	0	0	1	3	2	3	2	1	1	3	2	1	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112919948T>G	ENST00000351677.2	+	10	1361	c.1163T>G	c.(1162-1164)gTc>gGc	p.V388G	PTPN11_ENST00000392597.1_Missense_Mutation_p.V388G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	388	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTTAGGAACGTCAAAGAAAGC	0.383			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				4	145					0	0	0	0	G	112919948	T	G	112919948	3	3	408	1	0	0	0	0	1	0	0	0	12860	1667	58	5	1201	5	PTPN11	12	112919948	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	76224	112919948	20931947	2599	80417											
DTX1	1840	broad.mit.edu	37	chr12	113496126	113496126	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggccctacacggccacCgtgtgccaccacattgagaa	9	6	11	15	3	0	1	0	1	0	1	0	2	0	1	5	3	2	0	5	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:113496126C>T	ENST00000257600.3	+	1	632	c.129C>T	c.(127-129)acC>acT	p.T43T		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	43	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ACACGGCCACCGTGTGCCACC	0.652													23	133					0	0	0	0	T	113496126	C	T	113496126	2	4	408	1	0	0	0	0	0	0	0	1	4829	639	23	1		1	DTX1	12	113496126	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	576178	113496126	20355769	2600	80418											
DTX1	1840	broad.mit.edu	37	chr12	113534672	113534672	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggccacggctacccggaCgctagctacctagacaacgt	10	5	11	15	5	0	1	0	0	0	1	0	2	0	2	3	3	4	3	3	3	5	4	rs142267522	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:113534672C>T	ENST00000257600.3	+	9	2294	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	597					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.D597D(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTACCCGGACGCTAGCTACC	0.637													16	59					0	0	0	0	T	113534672	C	T	113534672	2	4	408	1	0	0	0	0	0	0	0	1	4829	535	19	1		1	DTX1	12	113534672	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	38546	113534672	20317223	2601	80419											
TPCN1	53373	broad.mit.edu	37	chr12	113711398	113711398	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgtgatgatgccctcCtactcccggaacccctggtc	7	9	9	16	1	0	3	0	2	0	1	3	4	2	4	6	2	3	0	6	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:113711398C>T	ENST00000550785.1	+	11	1252	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	TPCN1_ENST00000541517.1_Silent_p.S361S|TPCN1_ENST00000335509.6_Silent_p.S289S|TPCN1_ENST00000392569.4_Silent_p.S221S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	289						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGATGCCCTCCTACTCCCGGA	0.542													67	244					0	0	0	0	T	113711398	C	T	113711398	2	4	408	1	0	0	0	0	0	0	0	1	16490	668	24	4		4	TPCN1	12	113711398	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	176726	113711398	20140497	2602	80420											
TBX5	6910	broad.mit.edu	37	chr12	114841573	114841573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacctgctgggtgaaggcgGcctgcggggacgacggggac	6	6	19	10	4	0	1	0	1	0	0	0	4	0	3	2	7	3	1	2	7	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:114841573G>A	ENST00000310346.4	-	2	797	c.131C>T	c.(130-132)gCc>gTc	p.A44V	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.A44V|TBX5_ENST00000526441.1_Missense_Mutation_p.A44V|TBX5_ENST00000349716.5_Intron	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	44				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGTGAAGGCGGCCTGCGGGGA	0.647													28	125					0	0	0	0	A	114841573	G	A	114841573	3	1	408	1	0	0	0	0	1	0	0	0	15755	1203	42	4	1524	4	TBX5	12	114841573	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1130175	114841573	19010322	2603	80421											
FBXO21	23014	broad.mit.edu	37	chr12	117612582	117612582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcggagagaggattgcagtActggtcaatatatacagcac	13	9	12	7	1	1	1	1	0	0	1	2	4	1	3	0	3	4	3	0	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:117612582A>G	ENST00000427718.2	-	5	687	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Missense_Mutation_p.Y205H	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	205					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GGATTGCAGTACTGGTCAATA	0.428													44	114					0	0	0	0	G	117612582	A	G	117612582	3	3	408	1	0	0	0	0	1	0	0	0	5778	391	14	5	1305	5	FBXO21	12	117612582	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2771009	117612582	16239313	2604	80422											
NOS1	4842	broad.mit.edu	37	chr12	117655920	117655920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaggcggttggtcacttcgTacgttcgcagggtgactcca	7	11	13	10	4	1	1	1	1	0	0	4	1	2	1	1	4	1	4	1	4	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:117655920T>C	ENST00000317775.6	-	28	4905	c.4220A>G	c.(4219-4221)tAc>tGc	p.Y1407C	NOS1_ENST00000338101.4_Missense_Mutation_p.Y1441C|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1407				Y -> I (in Ref. 3; AAA36376).	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTCACTTCGTACGTTCGCAG	0.483													11	648					0	0	0	0	C	117655920	T	C	117655920	3	2	408	1	0	0	0	0	1	0	0	0	10611	1638	57	5	92	5	NOS1	12	117655920	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	43338	117655920	16195975	2605	80423											
NOS1	4842	broad.mit.edu	37	chr12	117660540	117660540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtttgtctggctcccGggagtaagccgtgtacagct	5	13	13	10	2	1	0	0	0	1	0	2	1	2	1	2	3	3	5	2	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:117660540G>A	ENST00000317775.6	-	26	4640	c.3955C>T	c.(3955-3957)Cgg>Tgg	p.R1319W	NOS1_ENST00000338101.4_Missense_Mutation_p.R1353W|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1319					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTGGCTCCCGGGAGTAAGCC	0.567													104	168					0	0	0	0	A	117660540	G	A	117660540	3	1	408	1	0	0	0	0	1	0	0	0	10611	1115	39	1	365	1	NOS1	12	117660540	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4620	117660540	16191355	2606	80424											
KSR2	283455	broad.mit.edu	37	chr12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-																															cggcgtggcactaggagggaGggggggtgctggcgaggagg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:117977605delG	ENST00000425217.1	-	10	1573	c.1519delC	c.(1519-1521)tcfs	p.L507fs	KSR2_ENST00000302438.5_Frame_Shift_Del_p.L233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Del_p.L536fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAGGAGGGAGGGGGGGTGCT	0.632													70	46	---	---	---	---					-	117977605	G	-	117977605	7	5	408	1	0	1	0	1	0	0	0	0	8635	1000	35	0	1290	0	KSR2	12	117977605	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	317065	117977605	15874290	2607	80425											
KSR2	283455	broad.mit.edu	37	chr12	118198900	118198900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggtgaatcccgggatcAagtgtatcagttttcgggag	8	10	15	8	4	2	1	2	1	0	0	4	3	3	3	1	3	0	2	1	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:118198900A>G	ENST00000425217.1	-	4	869	c.815T>C	c.(814-816)tTg>tCg	p.L272S	KSR2_ENST00000339824.5_Missense_Mutation_p.L301S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	301	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCCGGGATCAAGTGTATCAG	0.657													29	362					0	0	0	0	G	118198900	A	G	118198900	3	3	408	1	0	0	0	0	1	0	0	0	8635	131	5	5	2018	5	KSR2	12	118198900	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	221295	118198900	15652995	2608	80426											
KSR2	283455	broad.mit.edu	37	chr12	118199073	118199073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagggaacggtggccCgactccagtggcgggggcgg	5	3	23	10	4	0	0	0	0	0	0	1	2	1	1	2	9	1	1	2	9	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:118199073C>T	ENST00000425217.1	-	4	696	c.642G>A	c.(640-642)tcG>tcA	p.S214S	KSR2_ENST00000339824.5_Silent_p.S243S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	243	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACGGTGGCCCGACTCCAGTG	0.751													39	80					0	0	0	0	T	118199073	C	T	118199073	2	4	408	1	0	0	0	0	0	0	0	1	8635	639	23	1		1	KSR2	12	118199073	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	173	118199073	15652822	2609	80427											
SUDS3	64426	broad.mit.edu	37	chr12	118841279	118841279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctccagcccagaggttcGaagctcggatagaagatggc	12	7	12	10	2	1	3	0	0	1	3	4	5	1	4	2	3	2	2	2	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:118841279G>A	ENST00000543473.1	+	10	1072	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	SUDS3_ENST00000397564.2_Missense_Mutation_p.E255K|SUDS3_ENST00000541280.1_3'UTR	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	254					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGAGGTTCGAAGCTCGGAT	0.463													4	31					0	0	0	0	A	118841279	G	A	118841279	3	1	408	1	0	0	0	0	1	0	0	0	15457	1059	37	1	798	1	SUDS3	12	118841279	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	642206	118841279	15010616	2610	80428											
SRRM4	84530	broad.mit.edu	37	chr12	119594436	119594436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagccggagtcggagcCggagccggagacggagccgg	7	1	20	13	7	0	1	0	0	0	1	1	7	0	6	5	7	4	0	5	7	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:119594436C>T	ENST00000267260.4	+	13	2057	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	557	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						gagtcggagccggagccggag	0.731													10	16					0	0	0	0	T	119594436	C	T	119594436	3	4	408	1	0	0	0	0	1	0	0	0	15261	643	23	1	1719	1	SRRM4	12	119594436	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	753157	119594436	14257459	2611	80429											
PRKAB1	5564	broad.mit.edu	37	chr12	120112203	120112203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaagtgaagaaaactgActttgaagtatttgatgctt	14	14	8	5	0	1	5	1	4	0	1	1	5	1	5	0	0	2	2	0	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120112203A>G	ENST00000229328.5	+	4	968	c.476A>G	c.(475-477)gAc>gGc	p.D159G	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.D159G	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	159					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AAGAAAACTGACTTTGAAGTA	0.443													21	96					0	0	0	0	G	120112203	A	G	120112203	3	3	408	1	0	0	0	0	1	0	0	0	12575	275	10	5	490	5	PRKAB1	12	120112203	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	517767	120112203	13739692	2612	80430											
PRKAB1	5564	broad.mit.edu	37	chr12	120112225	120112225	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaagtatttgatgctttAatggtggattcccaaaagtg	11	16	10	4	0	0	2	0	2	0	0	1	3	1	3	1	2	1	2	1	2	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120112225A>G	ENST00000229328.5	+	4	990	c.498A>G	c.(496-498)ttA>ttG	p.L166L	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Silent_p.L166L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	166					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTGATGCTTTAATGGTGGATT	0.438													18	105					0	0	0	0	G	120112225	A	G	120112225	2	3	408	1	0	0	0	0	0	0	0	1	12575	359	13	5		5	PRKAB1	12	120112225	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	22	120112225	13739670	2613	80431											
GCN1L1	10985	broad.mit.edu	37	chr12	120582208	120582208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagataacccgctggcccgcGcgcagggcggtgtcacgcac	7	4	15	15	6	1	1	1	0	0	1	1	2	1	1	2	3	1	3	2	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120582208G>A	ENST00000300648.6	-	42	5409	c.5397C>T	c.(5395-5397)cgC>cgT	p.R1799R		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1799					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGCCCGCGCGCAGGGCGG	0.622													24	56					0	0	0	0	A	120582208	G	A	120582208	2	1	408	1	0	0	0	0	0	0	0	1	6348	1074	38	1		1	GCN1L1	12	120582208	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	469983	120582208	13269687	2614	80432											
GCN1L1	10985	broad.mit.edu	37	chr12	120585045	120585045	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcttcctggagggatcCgtcagggcatccaggaggac	7	8	16	10	1	2	0	1	0	1	0	5	4	5	4	3	6	0	1	3	6	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120585045C>T	ENST00000300648.6	-	38	4770	c.4758G>A	c.(4756-4758)acG>acA	p.T1586T		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1586					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGGGATCCGTCAGGGCAT	0.567													26	47					0	0	0	0	T	120585045	C	T	120585045	2	4	408	1	0	0	0	0	0	0	0	1	6348	639	23	1		1	GCN1L1	12	120585045	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2837	120585045	13266850	2615	80433											
GCN1L1	10985	broad.mit.edu	37	chr12	120585076	120585076	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggaggactggagcaatgGctgcacatccaaagagaaga	15	4	13	9	0	0	2	0	0	0	2	1	6	1	5	2	4	2	3	2	4	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120585076G>A	ENST00000300648.6	-	38	4739	c.4726_splice	c.e38-1	p.A1576_splice		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1576					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGCAATGGCTGCACATCC	0.532													11	38					0	0	0	0	A	120585076	G	A	120585076	5	1	408	1	0	0	0	0	0	0	1	0	6348	1217	42	4	3372	4	GCN1L1	12	120585076	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	31	120585076	13266819	2616	80434											
GCN1L1	10985	broad.mit.edu	37	chr12	120594296	120594296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcccgcacgctggcacacGgggactgcaaggcacagagc	9	5	13	14	3	0	1	0	0	0	1	1	2	1	2	1	4	2	5	1	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120594296G>A	ENST00000300648.6	-	28	3293	c.3281C>T	c.(3280-3282)cCg>cTg	p.P1094L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1094					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGCACACGGGGACTGCAA	0.597													5	85					0	0	0	0	A	120594296	G	A	120594296	3	1	408	1	0	0	0	0	1	0	0	0	6348	1116	39	1	4858	1	GCN1L1	12	120594296	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9220	120594296	13257599	2617	80435											
PXN	5829	broad.mit.edu	37	chr12	120652959	120652959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctttggcgactgtggCgacccccagcttgttcaggt	5	11	12	13	2	1	0	1	0	0	0	2	3	2	0	3	3	1	2	3	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120652959C>T	ENST00000397506.3	-	5	1540	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	PXN_ENST00000536957.1_Missense_Mutation_p.A349T|PXN_ENST00000458477.2_Missense_Mutation_p.A184T|PXN_ENST00000424649.2_Missense_Mutation_p.A317T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Missense_Mutation_p.A351T|PXN_ENST00000267257.7_Missense_Mutation_p.A365T			P49023	PAXI_HUMAN	paxillin	351					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGACTGTGGCGACCCCCAGC	0.692													13	21					0	0	0	0	T	120652959	C	T	120652959	3	4	408	1	0	0	0	0	1	0	0	0	12934	768	27	1	744	1	PXN	12	120652959	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	58663	120652959	13198936	2618	80436											
SIRT4	23409	broad.mit.edu	37	chr12	120750395	120750395	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctctcagaggagcaaGtccggagctttcaggtccca	8	11	10	12	1	4	1	2	0	2	1	7	3	6	3	2	3	2	2	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120750395G>C	ENST00000202967.4	+	3	693	c.634G>C	c.(634-636)Gtc>Ctc	p.V212L	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	212	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGGAGCAAGTCCGGAGCTT	0.557													5	98					0	0	0	0	C	120750395	G	C	120750395	3	2	408	1	0	0	0	0	1	0	0	0	14428	1029	36	4	640	4	SIRT4	12	120750395	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	97436	120750395	13101500	2619	80437											
SIRT4	23409	broad.mit.edu	37	chr12	120750423	120750423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcaggtcccaacctgcgTtcaatgtggaggccatctga	8	11	10	12	1	3	1	2	1	1	0	4	2	4	2	3	3	2	1	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120750423T>C	ENST00000202967.4	+	3	721	c.662T>C	c.(661-663)gTt>gCt	p.V221A	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	221	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAACCTGCGTTCAATGTGGA	0.542													7	84					0	0	0	0	C	120750423	T	C	120750423	3	2	408	1	0	0	0	0	1	0	0	0	14428	1725	60	5	668	5	SIRT4	12	120750423	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	28	120750423	13101472	2620	80438											
P2RX4	5025	broad.mit.edu	37	chr12	121659765	121659765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatcctcaccatgaaccAgacacagggcctgtgccccg	9	6	10	16	2	1	3	1	2	0	1	2	3	2	3	6	1	2	0	6	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:121659765A>G	ENST00000337233.4	+	3	640	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	P2RX4_ENST00000541532.1_Missense_Mutation_p.Q111R|P2RX4_ENST00000543171.1_Missense_Mutation_p.Q10R|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.Q127R	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	111					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCATGAACCAGACACAGGGC	0.657													155	258					0	0	0	0	G	121659765	A	G	121659765	3	3	408	1	0	0	0	0	1	0	0	0	11413	188	7	5	342	5	P2RX4	12	121659765	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	909342	121659765	12192130	2621	80439											
KDM2B	84678	broad.mit.edu	37	chr12	121868266	121868266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcactgatcagtgaccttaTtgcagtctgcagagaagaaa	13	9	11	8	0	2	4	1	2	1	2	2	5	2	4	1	1	2	3	1	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:121868266T>C	ENST00000377069.4	-	22	4035	c.3629A>G	c.(3628-3630)aAt>aGt	p.N1210S	KDM2B_ENST00000542973.1_Missense_Mutation_p.N647S|KDM2B_ENST00000536437.1_Missense_Mutation_p.I539V|RNF34_ENST00000392464.2_Missense_Mutation_p.I498T|KDM2B_ENST00000377071.4_Missense_Mutation_p.N1279S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1279					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGTGACCTTATTGCAGTCTGC	0.537													4	196					0	0	0	0	C	121868266	T	C	121868266	3	2	408	1	0	0	0	0	1	0	0	0	8178	1493	52	5	230	5	KDM2B	12	121868266	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	208501	121868266	11983629	2622	80440											
KDM2B	84678	broad.mit.edu	37	chr12	121986850	121986850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcttctccttcagatgCtggggccacatgttgtccac	5	13	10	13	0	3	1	1	0	2	1	5	1	4	1	3	2	2	3	3	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:121986850C>T	ENST00000377069.4	-	6	928	c.522G>A	c.(520-522)caG>caA	p.Q174Q	KDM2B_ENST00000536437.1_Silent_p.Q88Q|KDM2B_ENST00000377071.4_Silent_p.Q205Q|KDM2B_ENST00000538046.2_Silent_p.Q205Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	205					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.Q205Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTTCAGATGCTGGGGCCACA	0.552													13	134					0	0	0	0	T	121986850	C	T	121986850	2	4	408	1	0	0	0	0	0	0	0	1	8178	796	28	4		4	KDM2B	12	121986850	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	118584	121986850	11865045	2623	80441											
HPD	3242	broad.mit.edu	37	chr12	122277894	122277895	+	Frame_Shift_Ins	INS	-	-	T																															gtgggccggtcctgcaccggINStttggtgaagatctgcagga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122277894_122277895insT	ENST00000543163.1	-	14	1342_1343	c.897_898insA	c.(895-900)aacggtfs	p.NG299fs	HPD_ENST00000289004.4_Frame_Shift_Ins_p.NG338fs	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	338					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTGCACCGGTTTGGTGAAGA	0.629													25	164	---	---	---	---					T	122277895	-	T	122277894	7	5	408	1	0	1	1	0	0	0	0	0	7382	1261	44	0	174	0	HPD	12	122277894	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	291044	122277894	11574001	2624	80442											
MLXIP	22877	broad.mit.edu	37	chr12	122612496	122612496	+	Missense_Mutation	SNP	A	A	G																															ggacggctctgtggacgtagAcgagcaccgccggccggagg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122612496A>G	ENST00000319080.6	+	3	719	c.587A>G	c.(586-588)gAc>gGc	p.D196G				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	196	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GTGGACGTAGACGAGCACCGC	0.607													10	267					0	0	0	0	G	122612496	A	G	122612496	3	3	408	1	0	0	0	0	1	0	0	0	9705	275	10	5	597	5	MLXIP	12	122612496	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	334602	122612496	11239399	2625	80443	1044	2									
MLXIP	22877	broad.mit.edu	37	chr12	122612505	122612505	+	Missense_Mutation	SNP	G	G	A																															tgtggacgtagacgagcaccGccggccggaggtacttggca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122612505G>A	ENST00000319080.6	+	3	728	c.596G>A	c.(595-597)cGc>cAc	p.R199H				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	199	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GACGAGCACCGCCGGCCGGAG	0.607													7	239					0	0	0	0	A	122612505	G	A	122612505	3	1	408	1	0	0	0	0	1	0	0	0	9705	1087	38	1	606	1	MLXIP	12	122612505	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9	122612505	11239390	2626	80444	1044	2									
B3GNT4	79369	broad.mit.edu	37	chr12	122691149	122691149	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcaggctgttccaaggaTaccttcttgctcctggccat	6	13	8	14	0	2	0	1	0	1	0	4	1	4	1	5	3	2	3	5	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122691149T>C	ENST00000535274.1	+	1	2003	c.276T>C	c.(274-276)gaT>gaC	p.D92D	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Silent_p.D92D|B3GNT4_ENST00000324189.4_Silent_p.D117D			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	117					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GTTCCAAGGATACCTTCTTGC	0.607													6	427					0	0	0	0	C	122691149	T	C	122691149	2	2	408	1	0	0	0	0	0	0	0	1	1263	1403	49	5		5	B3GNT4	12	122691149	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	78644	122691149	11160746	2627	80445											
DIABLO	56616	broad.mit.edu	37	chr12	122692969	122692969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctccgactcagcccGctcctccccttcctcctgtg	2	11	6	22	2	1	0	1	0	0	0	7	1	7	0	8	0	2	2	8	0	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122692969G>A	ENST00000464942.2	-	5	1913	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	RP11-512M8.5_ENST00000535844.1_3'UTR|B3GNT4_ENST00000545141.1_Intron|DIABLO_ENST00000413918.1_Missense_Mutation_p.R183W|DIABLO_ENST00000353548.6_Missense_Mutation_p.R183W|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000267169.6_Missense_Mutation_p.R174W|DIABLO_ENST00000443649.3_Missense_Mutation_p.R227W	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	227					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GACTCAGCCCGCTCCTCCCCT	0.607													71	86					0	0	0	0	A	122692969	G	A	122692969	3	1	408	1	0	0	0	0	1	0	0	0	4554	1086	38	1	44	1	DIABLO	12	122692969	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1820	122692969	11158926	2628	80446											
VPS33A	65082	broad.mit.edu	37	chr12	122735613	122735613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccccttggctgcgtggtAcaggctcgtctggtcaccct	4	10	12	15	2	2	0	1	0	1	0	3	0	2	0	3	4	3	3	3	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122735613A>G	ENST00000267199.4	-	5	629	c.517T>C	c.(517-519)Tac>Cac	p.Y173H	RP11-512M8.5_ENST00000535844.1_Intron|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	173					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCTGCGTGGTACAGGCTCGTC	0.597													36	60					0	0	0	0	G	122735613	A	G	122735613	3	3	408	1	0	0	0	0	1	0	0	0	17297	391	14	5	1309	5	VPS33A	12	122735613	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	42644	122735613	11116282	2629	80447											
KNTC1	9735	broad.mit.edu	37	chr12	123089166	123089166	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttagctgagagatggctAcagaatatcccatcgcaggt	12	11	10	8	1	0	3	0	1	0	2	2	4	1	3	1	2	2	3	1	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123089166A>G	ENST00000333479.7	+	49	5334	c.5157A>G	c.(5155-5157)ctA>ctG	p.L1719L	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.L144L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1719					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAGATGGCTACAGAATATCC	0.343													14	49					0	0	0	0	G	123089166	A	G	123089166	2	3	408	1	0	0	0	0	0	0	0	1	8480	378	14	5		5	KNTC1	12	123089166	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	353553	123089166	10762729	2630	80448											
KNTC1	9735	broad.mit.edu	37	chr12	123089855	123089855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattttgaatatcttagatAttcatgcagcagctaaagaa	15	15	6	5	0	2	3	1	1	1	2	2	3	2	3	0	0	3	3	0	0	8	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123089855A>G	ENST00000333479.7	+	51	5566	c.5389A>G	c.(5389-5391)Att>Gtt	p.I1797V	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.I222V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1797					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TATCTTAGATATTCATGCAGC	0.289													5	15					0	0	0	0	G	123089855	A	G	123089855	3	3	408	1	0	0	0	0	1	0	0	0	8480	449	16	5	5587	5	KNTC1	12	123089855	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	689	123089855	10762040	2631	80449											
HIP1R	9026	broad.mit.edu	37	chr12	123343659	123343659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgggctctggagctcatggGgcagctgcaggaccagcagg	7	5	17	12	1	2	0	1	0	1	0	2	2	2	2	2	6	4	6	2	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123343659G>C	ENST00000253083.4	+	22	2335	c.2210G>C	c.(2209-2211)gGg>gCg	p.G737A		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	737					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GAGCTCATGGGGCAGCTGCAG	0.687													4	17					0	0	0	0	C	123343659	G	C	123343659	3	2	408	1	0	0	0	0	1	0	0	0	7165	1232	43	4	2296	4	HIP1R	12	123343659	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	253804	123343659	10508236	2632	80450											
PITPNM2	57605	broad.mit.edu	37	chr12	123485615	123485615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccttgtgtgtcttccGgctctgggctctcgatcttg	2	15	12	12	2	4	1	0	1	4	0	6	2	5	1	2	2	0	3	2	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123485615G>A	ENST00000280562.5	-	8	1344	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P380L|PITPNM2_ENST00000546049.1_Missense_Mutation_p.P418L|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P380L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P101L|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	380					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTGTCTTCCGGCTCTGGGCT	0.592													4	88					0	0	0	0	A	123485615	G	A	123485615	3	1	408	1	0	0	0	0	1	0	0	0	12023	1116	39	1	2982	1	PITPNM2	12	123485615	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	141956	123485615	10366280	2633	80451											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123705975	123705975	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcaccaagaaaattatgTtcaaattcaccaggagaaat	17	12	5	7	0	3	2	3	0	0	2	3	3	3	2	2	1	0	1	2	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123705975T>C	ENST00000606320.1	-	5	1022	c.816A>G	c.(814-816)gaA>gaG	p.E272E	MPHOSPH9_ENST00000392425.3_Silent_p.E120E|MPHOSPH9_ENST00000302349.5_Silent_p.E120E|MPHOSPH9_ENST00000541076.2_Silent_p.E242E			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	120					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GAAAATTATGTTCAAATTCAC	0.313													9	81					0	0	0	0	C	123705975	T	C	123705975	2	2	408	1	0	0	0	0	0	0	0	1	9798	1722	60	5		5	MPHOSPH9	12	123705975	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	220360	123705975	10145920	2634	80452											
SBNO1	55206	broad.mit.edu	37	chr12	123782699	123782699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaactagccccaagcttgCttttttgcaattgccgcgcc	9	11	7	14	2	0	0	0	0	0	0	0	0	0	0	4	0	6	3	4	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123782699C>T	ENST00000420886.2	-	30	3864	c.3865G>A	c.(3865-3867)Gca>Aca	p.A1289T	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1288T|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1289T|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1288T	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1289							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCCAAGCTTGCTTTTTTGCAA	0.393													4	129					0	0	0	0	T	123782699	C	T	123782699	3	4	408	1	0	0	0	0	1	0	0	0	13948	797	28	4	324	4	SBNO1	12	123782699	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	76724	123782699	10069196	2635	80453											
TCTN2	79867	broad.mit.edu	37	chr12	124191394	124191394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagttaccccaccccctgAcaaggtactccagttgctca	10	8	6	17	0	1	1	1	1	0	0	2	1	2	1	5	1	3	4	5	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124191394A>G	ENST00000303372.5	+	16	2019	c.1891A>G	c.(1891-1893)Aca>Gca	p.T631A	TCTN2_ENST00000426174.2_Missense_Mutation_p.T630A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	631					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CCACCCCCTGACAAGGTACTC	0.428													14	81					0	0	0	0	G	124191394	A	G	124191394	3	3	408	1	0	0	0	0	1	0	0	0	15817	275	10	5	1953	5	TCTN2	12	124191394	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	408695	124191394	9660501	2636	80454											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124229156	124229156	+	Frame_Shift_Del	DEL	T	T	-																															cttcacagatcatgaggatgTtttttaatggccggtacatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124229156delT	ENST00000330342.3	+	12	1587	c.1339delT	c.(1339-1341)ttfs	p.F448fs		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	448					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CATGAGGATGTTTTTTAATGG	0.532													25	102	---	---	---	---					-	124229156	T	-	124229156	7	5	408	1	0	1	0	1	0	0	0	0	1173	1725	60	0	1385	0	ATP6V0A2	12	124229156	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	37762	124229156	9622739	2637	80455											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124233282	124233282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattctgattgaatttattAacatgtttttattcccagcc	10	18	5	8	0	1	2	0	2	1	0	2	2	2	2	2	0	2	2	2	0	4	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124233282A>G	ENST00000330342.3	+	15	2133	c.1885A>G	c.(1885-1887)Aac>Gac	p.N629D		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	629					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGAATTTATTAACATGTTTTT	0.398													6	150					0	0	0	0	G	124233282	A	G	124233282	3	3	408	1	0	0	0	0	1	0	0	0	1173	362	13	5	1943	5	ATP6V0A2	12	124233282	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4126	124233282	9618613	2638	80456											
DNAH10	196385	broad.mit.edu	37	chr12	124274577	124274577	+	Frame_Shift_Del	DEL	C	C	-																															cagagtggacggcctagtcaCccccatggaaaacctgacct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124274577delC	ENST00000409039.3	+	11	1566	c.1541delC	c.(1540-1542)acfs	p.T514fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	514	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCTAGTCACCCCCATGGAA	0.473													59	305	---	---	---	---					-	124274577	C	-	124274577	7	5	408	1	0	1	0	1	0	0	0	0	4635	507	18	0	1583	0	DNAH10	12	124274577	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	41295	124274577	9577318	2639	80457											
DNAH10	196385	broad.mit.edu	37	chr12	124285853	124285853	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgggatacagcgcatgTtggatcattatcacatgctc	10	11	10	10	1	2	0	2	0	0	0	3	2	2	2	0	2	4	4	0	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124285853T>C	ENST00000409039.3	+	15	2159	c.2134T>C	c.(2134-2136)Ttg>Ctg	p.L712L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	712	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACAGCGCATGTTGGATCATTA	0.463													58	255					0	0	0	0	C	124285853	T	C	124285853	2	2	408	1	0	0	0	0	0	0	0	1	4635	1722	60	5		5	DNAH10	12	124285853	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	11276	124285853	9566042	2640	80458											
DNAH10	196385	broad.mit.edu	37	chr12	124311303	124311303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattctccaggaaggaattGaaggttttctcagggctctc	10	12	11	8	0	3	2	1	1	3	1	6	4	3	4	1	4	0	2	1	4	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124311303G>A	ENST00000409039.3	+	24	3920	c.3895G>A	c.(3895-3897)Gaa>Aaa	p.E1299K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1299	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAAGGAATTGAAGGTTTTCT	0.468													31	189					0	0	0	0	A	124311303	G	A	124311303	3	1	408	1	0	0	0	0	1	0	0	0	4635	1291	45	2	3989	2	DNAH10	12	124311303	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	25450	124311303	9540592	2641	80459											
DNAH10	196385	broad.mit.edu	37	chr12	124330404	124330404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagacatagttgattcttTcataagaggcaggtgagcat	13	11	11	6	0	2	4	1	2	1	2	2	5	2	4	0	2	1	3	0	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124330404T>C	ENST00000409039.3	+	30	5289	c.5264T>C	c.(5263-5265)tTc>tCc	p.F1755S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1755	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTGATTCTTTCATAAGAGGC	0.468													47	214					0	0	0	0	C	124330404	T	C	124330404	3	2	408	1	0	0	0	0	1	0	0	0	4635	1783	62	5	5382	5	DNAH10	12	124330404	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	19101	124330404	9521491	2642	80460											
DNAH10	196385	broad.mit.edu	37	chr12	124415103	124415103	+	Frame_Shift_Del	DEL	A	A	-																															caaaatccctgttggtgatgAaaaggagaaatttgttggtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124415103delA	ENST00000409039.3	+	72	12438	c.12413delA	c.(12412-12414)gafs	p.E4138fs	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4138					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTGGTGATGAAAAGGAGAAA	0.428													7	44	---	---	---	---					-	124415103	A	-	124415103	7	5	408	1	0	1	0	1	0	0	0	0	4635	246	9	0	12699	0	DNAH10	12	124415103	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	84699	124415103	9436792	2643	80461											
CCDC92	80212	broad.mit.edu	37	chr12	124427915	124427915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagtgctgctgcagccGcctgatctcggagtgcagcc	5	9	14	13	2	1	1	0	1	1	0	2	2	1	2	3	1	7	5	3	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124427915G>A	ENST00000545135.1	-	1	3405	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	CCDC92_ENST00000545891.1_Missense_Mutation_p.R37W|CCDC92_ENST00000238156.3_Missense_Mutation_p.R54W|CCDC92_ENST00000544798.1_5'UTR			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	54										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGCTGCAGCCGCCTGATCTCG	0.657													34	129					0	0	0	0	A	124427915	G	A	124427915	3	1	408	1	0	0	0	0	1	0	0	0	2898	1086	38	1	847	1	CCDC92	12	124427915	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	12812	124427915	9423980	2644	80462											
NCOR2	9612	broad.mit.edu	37	chr12	124820112	124820112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccccttgtcgtgggtcAgactgggtgagctcacaggg	6	8	17	10	1	2	2	2	1	0	1	3	3	2	3	2	4	2	1	2	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124820112A>G	ENST00000356219.3	-	40	6358	c.6203T>C	c.(6202-6204)cTg>cCg	p.L2068P	NCOR2_ENST00000404121.2_Missense_Mutation_p.L1622P|NCOR2_ENST00000429285.2_Missense_Mutation_p.L2051P|NCOR2_ENST00000405201.1_Missense_Mutation_p.L2061P|NCOR2_ENST00000404621.1_Missense_Mutation_p.L2051P|NCOR2_ENST00000397355.1_Missense_Mutation_p.L2052P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2072					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCGTGGGTCAGACTGGGTGA	0.677													15	51					0	0	0	0	G	124820112	A	G	124820112	3	3	408	1	0	0	0	0	1	0	0	0	10306	188	7	5	1398	5	NCOR2	12	124820112	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	392197	124820112	9031783	2645	80463											
NCOR2	9612	broad.mit.edu	37	chr12	124832801	124832801	+	Frame_Shift_Del	DEL	G	G	-																															cttgggggcggccgtctcatGggggggtcctgagctgcttc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124832801delG	ENST00000356219.3	-	30	4080	c.3925delC	c.(3925-3927)atfs	p.H1309fs	NCOR2_ENST00000429285.2_Frame_Shift_Del_p.H1292fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.H1302fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.H1292fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.H863fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.H1293fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1310					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCGTCTCATGGGGGGGTCCT	0.632											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	161	---	---	---	---					-	124832801	G	-	124832801	7	5	408	1	0	1	0	1	0	0	0	0	10306	1348	47	0	3716	0	NCOR2	12	124832801	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	12689	124832801	9019094	2646	80464											
NCOR2	9612	broad.mit.edu	37	chr12	124911256	124911256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggggtcggccataagccCgttcatgttgatgaacttga	9	11	12	9	2	1	3	1	3	0	0	2	3	1	3	2	3	2	2	2	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124911256C>T	ENST00000356219.3	-	12	1395	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000405201.1_Missense_Mutation_p.G414R|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	414					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCATAAGCCCGTTCATGTTG	0.572													47	82					0	0	0	0	T	124911256	C	T	124911256	3	4	408	1	0	0	0	0	1	0	0	0	10306	652	23	1	6476	1	NCOR2	12	124911256	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	78455	124911256	8940639	2647	80465											
UBC	7316	broad.mit.edu	37	chr12	125397539	125397539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggaatgccttccttgTcttggatctttgctttgacg	6	15	11	9	1	2	1	0	1	2	0	3	4	3	4	2	3	2	1	2	3	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:125397539T>C	ENST00000536769.1	-	1	2355	c.779A>G	c.(778-780)gAc>gGc	p.D260G	UBC_ENST00000339647.5_Missense_Mutation_p.D260G|UBC_ENST00000546120.1_Missense_Mutation_p.D184G|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	260	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCCTTCCTTGTCTTGGATCTT	0.517													55	356					0	0	0	0	C	125397539	T	C	125397539	3	2	408	1	0	0	0	0	1	0	0	0	16938	1667	58	5	1282	5	UBC	12	125397539	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	486283	125397539	8454356	2648	80466											
DHX37	57647	broad.mit.edu	37	chr12	125434989	125434989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggtgacacagcacccGcccccgctcggggcagtatg	6	4	14	17	4	0	1	0	1	0	0	1	1	0	1	4	4	1	4	4	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:125434989G>A	ENST00000308736.2	-	23	3189	c.3091C>T	c.(3091-3093)Cgg>Tgg	p.R1031W	DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACAGCACCCGCCCCCGCTCG	0.657													8	50					0	0	0	0	A	125434989	G	A	125434989	3	1	408	1	0	0	0	0	1	0	0	0	4547	1086	38	1	402	1	DHX37	12	125434989	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	37450	125434989	8416906	2649	80467											
DHX37	57647	broad.mit.edu	37	chr12	125467155	125467155	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacttcactcagcttctgTagcatctctgctcgctggga	6	13	10	12	1	4	0	2	0	2	0	6	2	4	2	0	2	3	5	0	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:125467155T>C	ENST00000308736.2	-	3	389	c.291A>G	c.(289-291)ctA>ctG	p.L97L		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	97							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCAGCTTCTGTAGCATCTCTG	0.458													6	391					0	0	0	0	C	125467155	T	C	125467155	2	2	408	1	0	0	0	0	0	0	0	1	4547	1625	57	5		5	DHX37	12	125467155	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	32166	125467155	8384740	2650	80468											
TMEM132D	121256	broad.mit.edu	37	chr12	129559268	129559268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgacattgttttccaTgtgaacccctgcccctgtgt	6	14	8	13	0	1	2	1	2	0	0	2	2	2	2	5	0	2	1	5	0	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:129559268T>C	ENST00000422113.2	-	9	2778	c.2452A>G	c.(2452-2454)Atg>Gtg	p.M818V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M356V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	818						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGTTTTCCATGTGAACCCCT	0.488													20	97					0	0	0	0	C	129559268	T	C	129559268	3	2	408	1	0	0	0	0	1	0	0	0	16141	1464	51	5	851	5	TMEM132D	12	129559268	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4092113	129559268	4292627	2651	80469											
FZD10	11211	broad.mit.edu	37	chr12	130647821	130647821	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgccgggtcatgtgcgagCaggcccggctcaagtgctcc	5	7	14	15	3	2	0	2	0	0	0	3	1	3	0	4	3	4	3	4	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:130647821C>T	ENST00000229030.4	+	1	818	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	FZD10_ENST00000539839.1_Missense_Mutation_p.A79V			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	112	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CATGTGCGAGCAGGCCCGGCT	0.632													33	207					0	0	0	0	T	130647821	C	T	130647821	4	4	408	1	0	0	0	0	0	1	0	0	6177	711	25	4	336	4	FZD10	12	130647821	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1088553	130647821	3204074	2652	80470											
FZD10	11211	broad.mit.edu	37	chr12	130648984	130648984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggccgcctccatcccCgccgtggagatcttcatggt	5	10	11	15	3	2	2	1	1	1	1	4	3	4	2	6	3	0	0	6	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:130648984C>T	ENST00000229030.4	+	1	1981	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	499					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCTCCATCCCCGCCGTGGAGA	0.557													28	47					0	0	0	0	T	130648984	C	T	130648984	2	4	408	1	0	0	0	0	0	0	0	1	6177	639	23	1		1	FZD10	12	130648984	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1163	130648984	3202911	2653	80471											
PIWIL1	9271	broad.mit.edu	37	chr12	130827178	130827178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaagggcccgCggtcaggagacagcgcagct	11	2	17	11	3	1	3	1	0	0	3	1	5	1	4	2	4	3	2	2	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:130827178C>T	ENST00000245255.3	+	2	314	c.42C>T	c.(40-42)cgC>cgT	p.R14R		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	14					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAAGGGCCCGCGGTCAGGAGA	0.527													11	36					0	0	0	0	T	130827178	C	T	130827178	2	4	408	1	0	0	0	0	0	0	0	1	12029	755	27	1		1	PIWIL1	12	130827178	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	178194	130827178	3024717	2654	80472											
GPR133	283383	broad.mit.edu	37	chr12	131593276	131593276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaaatcctagaccccctGccaagtgatggccgtgctcc	8	9	10	14	1	0	2	0	1	0	1	2	2	2	2	6	2	2	2	6	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:131593276G>A	ENST00000261654.5	+	18	2454	c.1895G>A	c.(1894-1896)tGc>tAc	p.C632Y	GPR133_ENST00000543617.1_Missense_Mutation_p.C151Y|GPR133_ENST00000535015.1_Missense_Mutation_p.C664Y|GPR133_ENST00000376682.4_Missense_Mutation_p.C318Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	632					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)		TAGACCCCCTGCCAAGTGATG	0.572													148	266					0	0	0	0	A	131593276	G	A	131593276	3	1	408	1	0	0	0	0	1	0	0	0	6692	1319	46	4	1965	4	GPR133	12	131593276	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	766098	131593276	2258619	2655	80473											
PXMP2	5827	broad.mit.edu	37	chr12	133277861	133277861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgcctcagccttcgccgCcaagatgagggggggcttct	7	7	14	13	3	2	3	1	1	1	2	3	3	2	3	4	3	1	1	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133277861C>T	ENST00000317479.3	+	4	490	c.425C>T	c.(424-426)gCc>gTc	p.A142V	PXMP2_ENST00000428960.2_Missense_Mutation_p.A49V|PXMP2_ENST00000539093.1_Silent_p.R13R|RP13-672B3.2_ENST00000537262.1_Silent_p.R13R|PXMP2_ENST00000545677.1_Silent_p.R13R|PXMP2_ENST00000543589.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	142						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCCTTCGCCGCCAAGATGAGG	0.597													7	249					0	0	0	0	T	133277861	C	T	133277861	3	4	408	1	0	0	0	0	1	0	0	0	12932	739	26	4	439	4	PXMP2	12	133277861	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1684585	133277861	574034	2656	80474											
GOLGA3	2802	broad.mit.edu	37	chr12	133363304	133363304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcttgctgcaactcttCgatttgtttcttcagcgcct	4	16	8	13	2	4	0	1	0	3	0	5	1	4	0	2	1	4	3	2	1	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133363304C>T	ENST00000204726.3	-	14	3439	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	GOLGA3_ENST00000450791.2_Missense_Mutation_p.E961K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E961K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E961K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E961K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	961					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAACTCTTCGATTTGTTTC	0.637													10	270					0	0	0	0	T	133363304	C	T	133363304	3	4	408	1	0	0	0	0	1	0	0	0	6605	893	31	1	1797	1	GOLGA3	12	133363304	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	85443	133363304	488591	2657	80475											
GOLGA3	2802	broad.mit.edu	37	chr12	133393322	133393322	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgggaagggtggcgttggCccgttctgacagaggcctcc	5	9	16	11	2	2	2	0	1	2	1	3	3	3	3	3	5	0	2	3	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133393322C>G	ENST00000204726.3	-	3	768	c.210G>C	c.(208-210)ggG>ggC	p.G70G	GOLGA3_ENST00000450791.2_Silent_p.G70G|GOLGA3_ENST00000545875.1_Silent_p.G70G|GOLGA3_ENST00000537452.1_Silent_p.G70G|GOLGA3_ENST00000456883.2_Silent_p.G70G	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	70	Pro-rich.		G -> E (in dbSNP:rs2291256).		intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTGGCGTTGGCCCGTTCTGAC	0.627													5	87					0	0	0	0	G	133393322	C	G	133393322	2	3	408	1	0	0	0	0	0	0	0	1	6605	726	26	4		4	GOLGA3	12	133393322	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	30018	133393322	458573	2658	80476											
CHFR	55743	broad.mit.edu	37	chr12	133438054	133438054	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaaccagacactaaccTcctctcattttcttcttcac	11	12	1	17	0	4	1	2	0	3	1	6	1	5	1	3	0	2	0	3	0	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133438054T>A	ENST00000266880.7	-	7	849	c.787_splice	c.e7+1	p.G262_splice	CHFR_ENST00000432561.2_Splice_Site_p.G262_splice|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Splice_Site_p.G170_splice|CHFR_ENST00000450056.2_Splice_Site_p.G250_splice|CHFR_ENST00000315585.7_Splice_Site_p.G221_splice			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	262					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GACACTAACCTCCTCTCATTT	0.577													27	116					0	0	0	0	A	133438054	T	A	133438054	5	1	408	1	0	0	0	0	0	0	1	0	3366	1565	54	5	1256	5	CHFR	12	133438054	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	44732	133438054	413841	2659	80477											
CHFR	55743	broad.mit.edu	37	chr12	133448979	133448979	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaatcactgttccactggTgctgtaaaaaaacaaaaaca	17	10	6	8	0	1	0	1	0	0	0	2	0	2	0	1	1	3	4	1	1	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133448979T>C	ENST00000266880.7	-	4	298	c.233_splice	c.e4-1	p.T79_splice	CHFR_ENST00000432561.2_Splice_Site_p.T79_splice|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Splice_Site_p.T79_splice|CHFR_ENST00000450056.2_Splice_Site_p.T79_splice|CHFR_ENST00000315585.7_Splice_Site_p.T79_splice			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	79	FHA.				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GTTCCACTGGTGCTGTAAAAA	0.378													7	104					0	0	0	0	C	133448979	T	C	133448979	5	2	408	1	0	0	0	0	0	0	1	0	3366	1710	59	5	1916	5	CHFR	12	133448979	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	10925	133448979	402916	2660	80478											
ZNF268	10795	broad.mit.edu	37	chr12	133779106	133779106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaaaaaccctttggatgCagctgttgtgagaaagcctt	11	10	12	8	1	0	1	0	1	0	1	0	4	0	2	2	2	4	3	2	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133779106C>T	ENST00000536435.2	+	6	1164	c.834C>T	c.(832-834)tgC>tgT	p.C278C	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.C278C|ZNF268_ENST00000537565.1_Silent_p.C117C|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	278						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCTTTGGATGCAGCTGTTGTG	0.403													5	12					0	0	0	0	T	133779106	C	T	133779106	2	4	408	1	0	0	0	0	0	0	0	1	17902	718	25	4		4	ZNF268	12	133779106	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	330127	133779106	72789	2661	80479											
TUBA3C	7278	broad.mit.edu	37	chr13	19753567	19753567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaacgtgttgaaggagTcgtccccaccaccaatggtt	11	9	11	10	2	0	3	0	2	0	1	2	4	1	4	4	2	1	2	4	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:19753567T>A	ENST00000400113.3	-	2	244	c.140A>T	c.(139-141)gAc>gTc	p.D47V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	47					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTTGAAGGAGTCGTCCCCACC	0.562													42	131					0	0	0	0	A	19753567	T	A	19753567	3	1	408	1	0	0	0	0	1	0	0	0	16842	1667	58	5	1228	5	TUBA3C	13	19753567	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08		19753567	95416311	2662	80480											
ZMYM2	7750	broad.mit.edu	37	chr13	20567602	20567602	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacatggaaacaaatcaaggGcaagagaaaaattcctccaa	20	5	8	8	0	1	1	1	0	0	1	3	4	3	2	2	2	1	1	2	2	7	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:20567602G>A	ENST00000382869.3	+	3	641	c.390G>A	c.(388-390)ggG>ggA	p.G130G	ZMYM2_ENST00000382871.2_Silent_p.G130G|ZMYM2_ENST00000382874.2_Silent_p.G130G|ZMYM2_ENST00000382881.3_Silent_p.G130G	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAATCAAGGGCAAGAGAAAA	0.383													16	67					0	0	0	0	A	20567602	G	A	20567602	2	1	408	1	0	0	0	0	0	0	0	1	17795	1190	42	4		4	ZMYM2	13	20567602	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	814035	20567602	94602276	2663	80481											
CRYL1	51084	broad.mit.edu	37	chr13	21006355	21006355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcttcttcatcagggcGtgggttctgtccactgtcgt	5	14	10	12	2	5	0	2	0	3	0	7	0	6	0	2	2	0	1	2	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:21006355G>A	ENST00000382812.1	-	6	681	c.453C>T	c.(451-453)caC>caT	p.H151H	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Silent_p.H173H			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	173					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TCATCAGGGCGTGGGTTCTGT	0.582													30	69					0	0	0	0	A	21006355	G	A	21006355	2	1	408	1	0	0	0	0	0	0	0	1	3950	1136	40	1		1	CRYL1	13	21006355	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	438753	21006355	94163523	2664	80482											
LATS2	26524	broad.mit.edu	37	chr13	21555623	21555623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctttgcggaggagcacctCgggtgcgatgtagtttggag	7	10	16	8	3	0	0	0	0	0	0	1	4	0	3	2	4	3	3	2	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:21555623C>T	ENST00000382592.4	-	6	3052	c.2647G>A	c.(2647-2649)Gag>Aag	p.E883K	LATS2_ENST00000542899.1_Missense_Mutation_p.E883K	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	883	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGGAGCACCTCGGGTGCGATG	0.622													12	60					0	0	0	0	T	21555623	C	T	21555623	3	4	408	1	0	0	0	0	1	0	0	0	8700	893	31	1	631	1	LATS2	13	21555623	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	549268	21555623	93614255	2665	80483											
SACS	26278	broad.mit.edu	37	chr13	23932595	23932595	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctctggggtgaaaaccgcGttgttgtacacatagagagc	10	10	12	9	2	1	2	0	1	1	1	2	3	2	2	2	2	3	3	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:23932595G>A	ENST00000402364.1	-	0	566				SACS_ENST00000382298.3_Silent_p.N161N|SACS_ENST00000382292.3_Silent_p.N161N	NM_001278055.1	NP_001264984.1	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)						cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.N14N(1)|p.N161N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAAACCGCGTTGTTGTACA	0.458													32	140					0	0	0	0	A	23932595	G	A	23932595	1	1	408	1	0	0	0	0	0	0	0	0	13889	1136	40	1		1	SACS	13	23932595	Translation_Start_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2376972	23932595	91237283	2666	80484											
MIPEP	4285	broad.mit.edu	37	chr13	24444256	24444256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagatgcttctcaatctTgttgggaaaattggttccca	11	14	9	7	0	2	1	1	0	2	1	4	3	3	2	1	2	1	3	1	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:24444256T>C	ENST00000382172.3	-	6	780	c.682A>G	c.(682-684)Aag>Gag	p.K228E		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	228					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTCTCAATCTTGTTGGGAAAA	0.403													7	102					0	0	0	0	C	24444256	T	C	24444256	3	2	408	1	0	0	0	0	1	0	0	0	9661	1821	63	5	1515	5	MIPEP	13	24444256	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	511661	24444256	90725622	2667	80485											
PARP4	143	broad.mit.edu	37	chr13	25073511	25073511	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaacattctgcataccAaacctgaaatttgtagtgta	14	14	5	8	0	2	1	1	1	1	0	2	1	2	1	2	0	4	3	2	0	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:25073511A>G	ENST00000381989.3	-	5	510	c.405T>C	c.(403-405)ttT>ttC	p.F135F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	135					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTGCATACCAAACCTGAAAT	0.269													9	23					0	0	0	0	G	25073511	A	G	25073511	2	3	408	1	0	0	0	0	0	0	0	1	11534	127	5	5		5	PARP4	13	25073511	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	629255	25073511	90096367	2668	80486											
RNF17	56163	broad.mit.edu	37	chr13	25376682	25376682	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcctgtgtctcttagagAtgcgctagtttttatggaac	8	16	10	7	1	1	1	0	0	1	1	2	3	1	2	1	1	3	2	1	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:25376682A>T	ENST00000255324.5	+	14	1974	c.1922A>T	c.(1921-1923)gAt>gTt	p.D641V	RNF17_ENST00000255325.5_Missense_Mutation_p.D642V|RNF17_ENST00000381921.1_Missense_Mutation_p.D641V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	641					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTCTTAGAGATGCGCTAGTT	0.323													10	97					0	0	0	0	T	25376682	A	T	25376682	3	4	408	1	0	0	0	0	1	0	0	0	13546	333	12	5	1976	5	RNF17	13	25376682	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	303171	25376682	89793196	2669	80487											
LNX2	222484	broad.mit.edu	37	chr13	28127463	28127463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctcaacaatctggacctCaagtgctttaagggcaacag	12	9	8	12	0	3	0	2	0	1	0	4	1	4	1	2	2	3	2	2	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28127463C>G	ENST00000316334.3	-	8	1789	c.1660G>C	c.(1660-1662)Gag>Cag	p.E554Q		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	554	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATCTGGACCTCAAGTGCTTTA	0.502													35	79					0	0	0	0	G	28127463	C	G	28127463	3	3	408	1	0	0	0	0	1	0	0	0	8921	835	29	2	424	2	LNX2	13	28127463	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2750781	28127463	87042415	2670	80488											
LNX2	222484	broad.mit.edu	37	chr13	28155586	28155586	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtcttttccggtccaaCggacagaaatctttctcttg	9	14	8	10	2	3	2	0	1	3	1	6	3	5	3	2	2	1	0	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28155586C>T	ENST00000316334.3	-	2	384	c.255G>A	c.(253-255)ccG>ccA	p.P85P		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	85							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TCCGGTCCAACGGACAGAAAT	0.388													14	44					0	0	0	0	T	28155586	C	T	28155586	2	4	408	1	0	0	0	0	0	0	0	1	8921	523	19	1		1	LNX2	13	28155586	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	28123	28155586	87014292	2671	80489											
GSX1	219409	broad.mit.edu	37	chr13	28368040	28368040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaattgcccatgtctccGtcctcctcagggaaggacga	9	8	11	13	3	2	0	1	0	1	0	5	5	4	2	4	2	1	0	4	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28368040G>A	ENST00000302945.2	+	2	798	c.750G>A	c.(748-750)ccG>ccA	p.P250P		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	250					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CCATGTCTCCGTCCTCCTCAG	0.657													23	45					0	0	0	0	A	28368040	G	A	28368040	2	1	408	1	0	0	0	0	0	0	0	1	6899	1132	40	1		1	GSX1	13	28368040	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	212454	28368040	86801838	2672	80490											
FLT3	2322	broad.mit.edu	37	chr13	28601232	28601232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagcctcttacctggaatTtggatgtgattggaaagtgg	9	12	12	8	0	1	1	0	1	1	0	1	4	1	4	3	4	2	0	3	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28601232T>C	ENST00000380982.4	-	17	2281	c.2200A>G	c.(2200-2202)Aat>Gat	p.N734D	FLT3_ENST00000537084.1_Missense_Mutation_p.N734D|FLT3_ENST00000241453.7_Missense_Mutation_p.N734D			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	734	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	TACCTGGAATTTGGATGTGAT	0.393			"Mis, O"		"AML, ALL"								53	147					0	0	0	0	C	28601232	T	C	28601232	3	2	408	1	0	0	0	0	1	0	0	0	5987	1841	64	5	813	5	FLT3	13	28601232	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	233192	28601232	86568646	2673	80491											
FLT1	2321	broad.mit.edu	37	chr13	28877396	28877396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagctcagcgtggtcgtAggtgaacctgcgcttgcctt	5	12	12	12	3	1	1	1	1	0	0	3	1	2	1	3	2	5	3	3	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28877396A>G	ENST00000282397.4	-	30	4176	c.3925T>C	c.(3925-3927)Tac>Cac	p.Y1309H	FLT1_ENST00000543394.1_Missense_Mutation_p.Y332H|FLT1_ENST00000540678.1_Missense_Mutation_p.Y527H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1309					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCGTGGTCGTAGGTGAACCTG	0.577													11	98					0	0	0	0	G	28877396	A	G	28877396	3	3	408	1	0	0	0	0	1	0	0	0	5986	420	15	5	95	5	FLT1	13	28877396	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	276164	28877396	86292482	2674	80492											
FLT1	2321	broad.mit.edu	37	chr13	29041235	29041235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttccttactcaccatttCaggcaaagaccatttatggg	10	13	7	11	0	2	1	2	0	0	1	3	1	3	1	3	2	1	2	3	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:29041235C>T	ENST00000282397.4	-	3	444	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	FLT1_ENST00000539099.1_Missense_Mutation_p.E65K|FLT1_ENST00000541932.1_Missense_Mutation_p.E65K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	65	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCACCATTTCAGGCAAAGAC	0.453													12	139					0	0	0	0	T	29041235	C	T	29041235	3	4	408	1	0	0	0	0	1	0	0	0	5986	835	29	2	4198	2	FLT1	13	29041235	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	163839	29041235	86128643	2675	80493											
FRY	10129	broad.mit.edu	37	chr13	32698424	32698424	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatattttaaattttacagcGatgaacaacagcgagattat	17	13	6	5	2	0	2	0	1	0	1	0	4	0	2	0	0	5	0	0	0	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:32698424G>A	ENST00000380250.3	+	5	962	c.464_splice	c.e5-1	p.D156_splice		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		ATTTTACAGCGATGAACAACA	0.313													5	38					0	0	0	0	A	32698424	G	A	32698424	5	1	408	1	0	0	0	0	0	0	1	0	6111	1072	37	1	484	1	FRY	13	32698424	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3657189	32698424	82471454	2676	80494											
BRCA2	675	broad.mit.edu	37	chr13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-																															gatgaaacatcttataaaggAaaaaaaataccgaaagacca																								rs80359307		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:32907421delA	ENST00000544455.1	+	10	2033	c.1806delA	c.(1804-1806)ggfs	p.G602fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTATAAAGGAAAAAAAATAC	0.303			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	46	---	---	---	---					-	32907421	A	-	32907421	7	5	408	1	0	1	0	1	0	0	0	0	1507	233	9	0	1840	0	BRCA2	13	32907421	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	208997	32907421	82262457	2677	80495											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017615	33017615	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttagttgtatacacttgTtcctctcttaaaactttatc	10	20	3	8	0	1	0	0	0	1	0	4	0	2	0	1	0	2	3	1	0	6	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:33017615T>C	ENST00000357505.6	-	7	1118	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Silent_p.E353E|N4BP2L2_ENST00000504114.1_Silent_p.E338E	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TATACACTTGTTCCTCTCTTA	0.358													4	22					0	0	0	0	C	33017615	T	C	33017615	2	2	408	1	0	0	0	0	0	0	0	1	10182	1722	60	5		5	N4BP2L2	13	33017615	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	110194	33017615	82152263	2678	80496											
KL	9365	broad.mit.edu	37	chr13	33590977	33590977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacagctacaacaacgtcttCcgcgacacggaggcgctgcg	10	5	12	14	6	1	0	0	0	1	0	2	3	2	1	1	2	5	2	1	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:33590977C>G	ENST00000380099.3	+	1	407	c.399C>G	c.(397-399)ttC>ttG	p.F133L	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	133	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACAACGTCTTCCGCGACACGG	0.711													8	46					0	0	0	0	G	33590977	C	G	33590977	3	3	408	1	0	0	0	0	1	0	0	0	8383	854	30	2	401	2	KL	13	33590977	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	573362	33590977	81578901	2679	80497											
KL	9365	broad.mit.edu	37	chr13	33635745	33635745	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggctcaactcccccagTcaggtggcggtagtgccctg	6	8	13	14	2	2	0	2	0	0	0	3	0	3	0	3	4	2	2	3	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:33635745T>C	ENST00000380099.3	+	4	2537	c.2529T>C	c.(2527-2529)agT>agC	p.S843S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	843	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACTCCCCCAGTCAGGTGGCGG	0.478													5	137					0	0	0	0	C	33635745	T	C	33635745	2	2	408	1	0	0	0	0	0	0	0	1	8383	1664	58	5		5	KL	13	33635745	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	44768	33635745	81534133	2680	80498											
RFC3	5983	broad.mit.edu	37	chr13	34399981	34399982	+	Frame_Shift_Ins	INS	-	-	A																															gatgttgaaaacagtggcacINSaatcacaacaacttgaaaca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:34399981_34399982insA	ENST00000380071.3	+	4	479_480	c.349_350insA	c.(349-351)atcfs	p.I117fs	RFC3_ENST00000434425.1_Frame_Shift_Ins_p.I117fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	117					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AACAGTGGCACAATCACAACAA	0.356													19	63	---	---	---	---					A	34399982	-	A	34399981	7	5	408	1	0	1	1	0	0	0	0	0	13328	479	17	0	363	0	RFC3	13	34399981	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	764236	34399981	80769897	2681	80499											
NBEA	26960	broad.mit.edu	37	chr13	35672513	35672513	+	Frame_Shift_Del	DEL	T	T	-																															agatgctgggtggaaaaggcTttttagtcattggctactta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:35672513delT	ENST00000540320.1	+	11	2185	c.1651delT	c.(1651-1653)ttfs	p.F551fs	NBEA_ENST00000379939.2_Frame_Shift_Del_p.F551fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.F551fs|NBEA_ENST00000400445.3_Frame_Shift_Del_p.F551fs			Q8NFP9	NBEA_HUMAN	neurobeachin	551						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGAAAAGGCTTTTTAGTCAT	0.378													4	5	---	---	---	---					-	35672513	T	-	35672513	7	5	408	1	0	1	0	1	0	0	0	0	10257	1609	56	0	1693	0	NBEA	13	35672513	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1272532	35672513	79497365	2682	80500											
SPG20	23111	broad.mit.edu	37	chr13	36909285	36909285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttacaaaaaaaatctgtActccatttggtatcaaaatc	17	13	4	7	0	2	0	1	0	1	0	4	1	3	0	1	1	2	2	1	1	9	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:36909285A>G	ENST00000451493.1	-	2	900	c.683T>C	c.(682-684)gTa>gCa	p.V228A	SPG20_ENST00000438666.2_Missense_Mutation_p.V228A|SPG20_ENST00000355182.4_Missense_Mutation_p.V228A|SPG20_ENST00000494062.2_Missense_Mutation_p.V228A|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	228					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AAAAATCTGTACTCCATTTGG	0.428													29	95					0	0	0	0	G	36909285	A	G	36909285	3	3	408	1	0	0	0	0	1	0	0	0	15132	391	14	5	1349	5	SPG20	13	36909285	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1236772	36909285	78260593	2683	80501											
CCNA1	8900	broad.mit.edu	37	chr13	37012300	37012300	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactgaatatgctgaagAaatttatcagtaccttaggg	13	13	10	5	0	1	4	1	3	0	1	1	4	1	4	1	1	2	2	1	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:37012300A>C	ENST00000418263.1	+	4	988	c.638A>C	c.(637-639)gAa>gCa	p.E213A	CCNA1_ENST00000449823.1_Missense_Mutation_p.E170A|CCNA1_ENST00000255465.4_Missense_Mutation_p.E214A|CCNA1_ENST00000440264.1_Missense_Mutation_p.E170A	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	214					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TATGCTGAAGAAATTTATCAG	0.393													34	100					0	0	0	0	C	37012300	A	C	37012300	3	2	408	1	0	0	0	0	1	0	0	0	2938	246	9	5	655	5	CCNA1	13	37012300	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	103015	37012300	78157578	2684	80502											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679168	37679168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaccataccagtgcaTgtgggggatgccaaccccac	9	8	10	14	0	0	1	0	1	0	0	1	2	1	2	6	2	4	1	6	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:37679168T>C	ENST00000379800.3	-	1	635	c.226A>G	c.(226-228)Atg>Gtg	p.M76V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	76	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.M76V(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TACCAGTGCATGTGGGGGATG	0.493													32	110					0	0	0	0	C	37679168	T	C	37679168	3	2	408	1	0	0	0	0	1	0	0	0	3983	1464	51	5	791	5	CSNK1A1L	13	37679168	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	666868	37679168	77490710	2685	80503											
FREM2	341640	broad.mit.edu	37	chr13	39422641	39422641	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtaatttagattttgcAcctggagtcaacatgcagcc	11	11	9	10	1	1	1	1	0	0	1	1	2	1	2	3	1	5	3	3	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:39422641A>G	ENST00000280481.7	+	8	6429	c.6213A>G	c.(6211-6213)gcA>gcG	p.A2071A	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2071	Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAGATTTTGCACCTGGAGTCA	0.413													19	182					0	0	0	0	G	39422641	A	G	39422641	2	3	408	1	0	0	0	0	0	0	0	1	6093	146	6	5		5	FREM2	13	39422641	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1743473	39422641	75747237	2686	80504											
NAA16	79612	broad.mit.edu	37	chr13	41941733	41941733	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcgattgaaatatacttGaaattgtatgataatccctt	14	15	6	6	1	1	3	1	3	0	0	2	4	2	3	1	0	2	1	1	0	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:41941733G>C	ENST00000379406.3	+	14	2022	c.1698G>C	c.(1696-1698)ttG>ttC	p.L566F	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	566					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAATATACTTGAAATTGTATG	0.328													8	24					0	0	0	0	C	41941733	G	C	41941733	3	2	408	1	0	0	0	0	1	0	0	0	10189	1281	45	2	1785	2	NAA16	13	41941733	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2519092	41941733	73228145	2687	80505											
GTF2F2	2963	broad.mit.edu	37	chr13	45710869	45710869	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgttttactttgttttaggTtcctaaatatttgtcacagc	8	20	7	6	0	1	0	1	0	0	0	2	0	2	0	1	1	2	3	1	1	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:45710869T>C	ENST00000340473.6	+	2	209	c.66_splice	c.e2-1	p.V23_splice		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	23					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TTGTTTTAGGTTCCTAAATAT	0.313													9	39					0	0	0	0	C	45710869	T	C	45710869	5	2	408	1	0	0	0	0	0	0	1	0	6909	1739	60	5	74	5	GTF2F2	13	45710869	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3769136	45710869	69459009	2688	80506											
KCTD4	386618	broad.mit.edu	37	chr13	45768564	45768564	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggtcagtgtttgtttttGagtaatgtataaatatccac	10	18	8	5	0	1	1	1	1	0	0	2	1	2	1	1	1	0	4	1	1	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:45768564G>C	ENST00000405872.1	-	2	542	c.139C>G	c.(139-141)Caa>Gaa	p.Q47E	KCTD4_ENST00000379108.1_Missense_Mutation_p.Q47E|GTF2F2_ENST00000340473.6_Intron	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	47	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		GTTTGTTTTTGAGTAATGTAT	0.398													60	179					0	0	0	0	C	45768564	G	C	45768564	3	2	408	1	0	0	0	0	1	0	0	0	8164	1299	45	2	644	2	KCTD4	13	45768564	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	57695	45768564	69401314	2689	80507											
CPB2	1361	broad.mit.edu	37	chr13	46632473	46632473	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgactcaggataaagTccacagtaggtttccgagca	11	10	11	9	1	2	1	1	1	1	0	4	3	4	2	2	3	1	4	2	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:46632473T>C	ENST00000181383.4	-	9	856	c.840A>G	c.(838-840)ggA>ggG	p.G280G	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Silent_p.G243G	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	280					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CAGGATAAAGTCCACAGTAGG	0.418													4	113					0	0	0	0	C	46632473	T	C	46632473	2	2	408	1	0	0	0	0	0	0	0	1	3827	1654	58	5		5	CPB2	13	46632473	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	863909	46632473	68537405	2690	80508											
HTR2A	3356	broad.mit.edu	37	chr13	47466612	47466612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgggattctggatggCgacgtagcggtccagcgaga	8	8	18	7	4	1	1	0	0	1	1	2	6	2	4	1	5	2	1	1	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:47466612C>T	ENST00000378688.4	-	2	657	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	HTR2A_ENST00000542664.1_Missense_Mutation_p.A176T|HTR2A_ENST00000543956.1_Missense_Mutation_p.A92T			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	176					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.A176T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTCTGGATGGCGACGTAGCGG	0.527													113	317					0	0	0	0	T	47466612	C	T	47466612	3	4	408	1	0	0	0	0	1	0	0	0	7494	768	27	1	897	1	HTR2A	13	47466612	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	834139	47466612	67703266	2691	80509											
FNDC3A	22862	broad.mit.edu	37	chr13	49712931	49712931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacttctttccaacattgTcaaaccagtggtaagtatct	12	13	6	10	0	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:49712931T>C	ENST00000492622.2	+	7	1114	c.809T>C	c.(808-810)gTc>gCc	p.V270A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.V270A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.V214A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	270	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCCAACATTGTCAAACCAGTG	0.229													7	39					0	0	0	0	C	49712931	T	C	49712931	3	2	408	1	0	0	0	0	1	0	0	0	6014	1667	58	5	842	5	FNDC3A	13	49712931	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2246319	49712931	65456947	2692	80510											
FNDC3A	22862	broad.mit.edu	37	chr13	49772646	49772646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgaaatggggagaaggaActccaaagacattgtcaacc	16	6	11	8	0	1	3	1	1	0	2	2	5	2	4	2	3	3	1	2	3	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:49772646A>G	ENST00000492622.2	+	23	3228	c.2923A>G	c.(2923-2925)Act>Gct	p.T975A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.T975A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.T919A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	975	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGGAGAAGGAACTCCAAAGAC	0.398													23	102					0	0	0	0	G	49772646	A	G	49772646	3	3	408	1	0	0	0	0	1	0	0	0	6014	43	2	5	3020	5	FNDC3A	13	49772646	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	59715	49772646	65397232	2693	80511											
FNDC3A	22862	broad.mit.edu	37	chr13	49775950	49775950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaggtttgtatccctatAcagaggaccatgtcatacat	11	15	7	8	0	1	1	1	0	0	1	2	2	2	2	2	2	2	2	2	2	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:49775950A>G	ENST00000492622.2	+	24	3307	c.3002A>G	c.(3001-3003)tAc>tGc	p.Y1001C	FNDC3A_ENST00000541916.1_Missense_Mutation_p.Y1001C|FNDC3A_ENST00000398316.3_Missense_Mutation_p.Y945C	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1001	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTATCCCTATACAGAGGACCA	0.328													4	40					0	0	0	0	G	49775950	A	G	49775950	3	3	408	1	0	0	0	0	1	0	0	0	6014	391	14	5	3103	5	FNDC3A	13	49775950	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3304	49775950	65393928	2694	80512											
SETDB2	83852	broad.mit.edu	37	chr13	50035241	50035241	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttaacagaatacatcCaagcaatgattctagtgaat	15	13	6	7	0	2	3	0	2	2	1	3	3	3	3	1	0	3	1	1	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:50035241C>T	ENST00000354234.4	+	4	1057	c.151C>T	c.(151-153)Caa>Taa	p.Q51*	SETDB2_ENST00000258672.5_Nonsense_Mutation_p.Q51*|SETDB2_ENST00000317257.8_Nonsense_Mutation_p.Q51*	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	51					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAATACATCCAAGCAATGAT	0.313													29	104					0	0	0	0	T	50035241	C	T	50035241	4	4	408	1	0	0	0	0	0	1	0	0	14226	595	21	4	161	4	SETDB2	13	50035241	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	259291	50035241	65134637	2695	80513											
PCDH9	5101	broad.mit.edu	37	chr13	67801644	67801644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctctgaactgtaatcagcCcagtagtattatttaaagca	14	12	6	9	0	2	1	1	1	1	0	2	1	2	1	2	0	3	4	2	0	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:67801644C>T	ENST00000544246.1	-	2	1620	c.929G>A	c.(928-930)gGg>gAg	p.G310E	PCDH9_ENST00000377861.3_Missense_Mutation_p.G310E|PCDH9_ENST00000328454.5_Missense_Mutation_p.G310E|PCDH9_ENST00000456367.1_Missense_Mutation_p.G310E|PCDH9_ENST00000377865.2_Missense_Mutation_p.G310E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	310	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTAATCAGCCCAGTAGTATT	0.483													35	103					0	0	0	0	T	67801644	C	T	67801644	3	4	408	1	0	0	0	0	1	0	0	0	11589	623	22	4	2800	4	PCDH9	13	67801644	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	17766403	67801644	47368234	2696	80514											
DACH1	1602	broad.mit.edu	37	chr13	72440247	72440247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccccaccaagtgcttcaGgaacaggtcgaaagcctggg	10	5	12	14	1	1	0	1	0	0	0	2	2	1	1	5	3	3	1	5	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:72440247G>A	ENST00000305425.4	-	1	1083	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	DACH1_ENST00000359684.2_Silent_p.L221L|DACH1_ENST00000354591.4_Silent_p.L221L|DACH1_ENST00000313174.7_Silent_p.L221L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	219	DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAGTGCTTCAGGAACAGGTCG	0.577													4	109					0	0	0	0	A	72440247	G	A	72440247	2	1	408	1	0	0	0	0	0	0	0	1	4253	991	35	4		4	DACH1	13	72440247	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4638603	72440247	42729631	2697	80515											
DACH1	1602	broad.mit.edu	37	chr13	72440846	72440846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagaggaggaagcagacgtgGagattgggggttgagggggg	10	5	23	3	1	0	4	0	1	0	3	0	7	0	6	0	8	1	2	0	8	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:72440846G>C	ENST00000305425.4	-	1	484	c.62C>G	c.(61-63)tCc>tGc	p.S21C	DACH1_ENST00000359684.2_Missense_Mutation_p.S21C|DACH1_ENST00000354591.4_Missense_Mutation_p.S21C|DACH1_ENST00000313174.7_Missense_Mutation_p.S21C	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	21					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGCAGACGTGGAGATTGGGGG	0.632													12	24					0	0	0	0	C	72440846	G	C	72440846	3	2	408	1	0	0	0	0	1	0	0	0	4253	1174	41	2	2108	2	DACH1	13	72440846	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	599	72440846	42729032	2698	80516											
DIS3	22894	broad.mit.edu	37	chr13	73346903	73346903	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggctgatggggaacAtcgtgttcaagtaacaaaac	17	7	11	6	1	1	1	1	1	0	0	2	3	1	2	0	3	3	3	0	3	7	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:73346903A>G	ENST00000377767.4	-	9	1414	c.1314T>C	c.(1312-1314)gaT>gaC	p.D438D	DIS3_ENST00000377780.4_Silent_p.D408D|DIS3_ENST00000545453.1_Silent_p.D276D	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	438					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GATGGGGAACATCGTGTTCAA	0.388										Multiple Myeloma(4;0.011)			29	83					0	0	0	0	G	73346903	A	G	73346903	2	3	408	1	0	0	0	0	0	0	0	1	4572	214	8	5		5	DIS3	13	73346903	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	906057	73346903	41822975	2699	80517											
FBXL3	26224	broad.mit.edu	37	chr13	77581451	77581451	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcaacaaaggcactacaTgagacttcacattcccctag	15	8	5	13	0	2	1	2	1	0	1	3	2	3	1	2	1	3	1	2	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:77581451T>C	ENST00000355619.5	-	5	1440	c.1116A>G	c.(1114-1116)tcA>tcG	p.S372S	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	372					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AGGCACTACATGAGACTTCAC	0.408													26	102					0	0	0	0	C	77581451	T	C	77581451	2	2	408	1	0	0	0	0	0	0	0	1	5765	1451	51	5		5	FBXL3	13	77581451	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4234548	77581451	37588427	2700	80518											
SLITRK1	114798	broad.mit.edu	37	chr13	84453776	84453776	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaaacaccagcagcagtcCcgggaccaacaccgagatgg	14	2	11	14	2	0	1	0	0	0	1	1	4	1	2	4	2	4	2	4	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:84453776C>A	ENST00000377084.2	-	1	2752	c.1867G>T	c.(1867-1869)Gga>Tga	p.G623*		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	623						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGCAGCAGTCCCGGGACCAAC	0.577													8	29					0.00307968	0.00310584	1	0	A	84453776	C	A	84453776	4	1	408	1	0	0	0	0	0	1	0	0	14830	632	22	4	227	4	SLITRK1	13	84453776	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	6872325	84453776	30716102	2701	80519											
SLITRK5	26050	broad.mit.edu	37	chr13	88329395	88329395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcagctcaaagtgggCgtcctagtggacgaggtgat	9	8	17	7	2	1	1	1	1	0	0	2	4	2	3	1	4	2	2	1	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:88329395C>T	ENST00000325089.6	+	2	1971	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G	SLITRK5_ENST00000400028.3_Silent_p.G343G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	584	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCAAAGTGGGCGTCCTAGTGG	0.522													64	218					0	0	0	0	T	88329395	C	T	88329395	2	4	408	1	0	0	0	0	0	0	0	1	14834	755	27	1		1	SLITRK5	13	88329395	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3875619	88329395	26840483	2702	80520											
GPC6	10082	broad.mit.edu	37	chr13	94680114	94680114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggctgcttggcaaatcaGgctgacctcgacacagagtg	11	7	13	10	1	1	2	1	1	0	1	2	3	1	2	1	3	1	4	1	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:94680114G>T	ENST00000377047.4	+	4	1458	c.843G>T	c.(841-843)caG>caT	p.Q281H		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	281						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGGCAAATCAGGCTGACCTCG	0.493													44	104					1.76056e-25	1.86429e-25	1	0	T	94680114	G	T	94680114	3	4	408	1	0	0	0	0	1	0	0	0	6651	991	35	4	857	4	GPC6	13	94680114	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6350719	94680114	20489764	2703	80521											
ABCC4	10257	broad.mit.edu	37	chr13	95815404	95815404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctaagtaccagttaagAtctagcttctcggttacatt	11	15	6	9	1	2	1	0	0	2	1	4	1	3	1	2	1	3	4	2	1	5	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:95815404A>G	ENST00000376887.4	-	18	2394	c.2280T>C	c.(2278-2280)gaT>gaC	p.D760D	ABCC4_ENST00000412704.1_Silent_p.D713D|ABCC4_ENST00000536256.1_Silent_p.D685D|ABCC4_ENST00000431522.1_Silent_p.D760D	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	760	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACCAGTTAAGATCTAGCTTCT	0.373													5	146					0	0	0	0	G	95815404	A	G	95815404	2	3	408	1	0	0	0	0	0	0	0	1	55	330	12	5		5	ABCC4	13	95815404	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1135290	95815404	19354474	2704	80522											
DZIP1	22873	broad.mit.edu	37	chr13	96293612	96293612	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagatcatcttcttccggcgTttgcactcttccttgagcgt	5	15	9	12	3	4	2	1	1	3	1	6	3	6	2	2	1	2	2	2	1	0	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:96293612T>C	ENST00000347108.3	-	3	966	c.534A>G	c.(532-534)aaA>aaG	p.K178K	DZIP1_ENST00000376829.2_Silent_p.K178K|DZIP1_ENST00000361396.2_Silent_p.K178K|DZIP1_ENST00000361156.3_Silent_p.K178K|DZIP1_ENST00000466027.1_5'UTR			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	178					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			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)			TCTTCCGGCGTTTGCACTCTT	0.577													5	59					0	0	0	0	C	96293612	T	C	96293612	2	2	408	1	0	0	0	0	0	0	0	1	4899	1722	60	5		5	DZIP1	13	96293612	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	478208	96293612	18876266	2705	80523											
DZIP1	22873	broad.mit.edu	37	chr13	96293851	96293853	+	In_Frame_Del	DEL	AGA	AGA	-																															cttctcgtcttccagcttgcAgaaggtgatgttcatgatgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:96293851_96293853delAGA	ENST00000347108.3	-	3	725_727	c.293_295delTCT	c.(292-297)tgc>t	p.FC98del	DZIP1_ENST00000361156.3_In_Frame_Del_p.FC98del|DZIP1_ENST00000376829.2_In_Frame_Del_p.FC98del|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_In_Frame_Del_p.FC98del			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	98					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			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)			TCCAGCTTGCAGAAGGTGATGTT	0.616													47	162	---	---	---	---					-	96293853	AGA	-	96293851	7	5	408	1	0	1	0	1	0	0	0	0	4899	188	7	0	2384	0	DZIP1	13	96293851	In_Frame_Del	DEL	AGA	TCGA-F7-A624-01A-22D-A30E-08	239	96293851	18876027	2706	80524											
FARP1	10160	broad.mit.edu	37	chr13	99047624	99047624	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgaggagaagccccgcgggTaacaagcaggcggacggagc	11	1	17	12	5	0	1	0	0	0	1	0	5	0	3	3	5	4	2	3	5	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:99047624T>C	ENST00000376586.2	+	13	1644	c.1308T>C	c.(1306-1308)ggT>ggC	p.G436G	FARP1_ENST00000319562.6_Silent_p.G436G|FARP1_ENST00000595437.1_Silent_p.G436G			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	436					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCCCCGCGGGTAACAAGCAGG	0.692													24	66					0	0	0	0	C	99047624	T	C	99047624	2	2	408	1	0	0	0	0	0	0	0	1	5721	1625	57	5		5	FARP1	13	99047624	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2753773	99047624	16122254	2707	80525											
FARP1	10160	broad.mit.edu	37	chr13	99047677	99047677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaggaagaggaggaggTcgttaaggataggacccagc	13	4	17	7	2	0	1	0	0	0	1	1	7	0	7	1	7	1	1	1	7	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:99047677T>C	ENST00000376586.2	+	13	1697	c.1361T>C	c.(1360-1362)gTc>gCc	p.V454A	FARP1_ENST00000319562.6_Missense_Mutation_p.V454A|FARP1_ENST00000595437.1_Missense_Mutation_p.V454A			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	454					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAGGAGGAGGTCGTTAAGGAT	0.667													23	109					0	0	0	0	C	99047677	T	C	99047677	3	2	408	1	0	0	0	0	1	0	0	0	5721	1667	58	5	1630	5	FARP1	13	99047677	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	53	99047677	16122201	2708	80526											
DOCK9	23348	broad.mit.edu	37	chr13	99630082	99630082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccacttcgccctgagctgCatccttgtattgcagggggg	5	12	12	12	1	0	1	0	1	0	0	3	1	2	1	3	3	3	4	3	3	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:99630082C>T	ENST00000376460.1	-	1	162	c.82G>A	c.(82-84)Gca>Aca	p.A28T	DOCK9_ENST00000448493.2_Intron|DOCK9_ENST00000442173.1_Missense_Mutation_p.A28T|DOCK9_ENST00000339416.2_Intron	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCTGAGCTGCATCCTTGTAT	0.517													4	11					0	0	0	0	T	99630082	C	T	99630082	3	4	408	1	0	0	0	0	1	0	0	0	4730	710	25	4	6409	4	DOCK9	13	99630082	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	582405	99630082	15539796	2709	80527											
ZIC2	7546	broad.mit.edu	37	chr13	100635069	100635069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctatatgcggcagcagTgcatcaagcaggagctaatc	11	8	11	11	2	1	0	1	0	0	0	3	1	2	1	1	2	5	6	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:100635069T>C	ENST00000376335.3	+	1	1044	c.751T>C	c.(751-753)Tgc>Cgc	p.C251R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	251	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGGCAGCAGTGCATCAAGCA	0.557													5	154					0	0	0	0	C	100635069	T	C	100635069	3	2	408	1	0	0	0	0	1	0	0	0	17774	1696	59	5	753	5	ZIC2	13	100635069	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1004987	100635069	14534809	2710	80528											
IRS2	8660	broad.mit.edu	37	chr13	110434506	110434506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccgccggtgctgccgaCgcccacagcgctgatgagac	6	4	13	18	6	0	2	0	2	0	1	0	4	0	2	5	1	3	2	5	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:110434506C>T	ENST00000375856.3	-	1	4409	c.3895G>A	c.(3895-3897)Gtc>Atc	p.V1299I		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1299					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GTGCTGCCGACGCCCACAGCG	0.726													11	18					0	0	0	0	T	110434506	C	T	110434506	3	4	408	1	0	0	0	0	1	0	0	0	7894	536	19	1	129	1	IRS2	13	110434506	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	9799437	110434506	4735372	2711	80529											
IRS2	8660	broad.mit.edu	37	chr13	110436629	110436629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attcatccagcgaggcagagGagggctggggcaccggccgc	8	4	17	12	3	1	1	1	0	0	1	2	3	2	2	3	6	1	3	3	6	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:110436629G>A	ENST00000375856.3	-	1	2286	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	591					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CGAGGCAGAGGAGGGCTGGGG	0.736													8	24					0	0	0	0	A	110436629	G	A	110436629	3	1	408	1	0	0	0	0	1	0	0	0	7894	1174	41	2	2252	2	IRS2	13	110436629	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2123	110436629	4733249	2712	80530											
IRS2	8660	broad.mit.edu	37	chr13	110436745	110436745	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggcggtaggagcggccAcagtggctcaggggcctgtc	6	5	17	13	3	1	0	1	0	0	0	2	1	1	1	3	7	1	2	3	7	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:110436745A>G	ENST00000375856.3	-	1	2170	c.1656T>C	c.(1654-1656)tgT>tgC	p.C552C		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	552					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			AGGAGCGGCCACAGTGGCTCA	0.731													13	41					0	0	0	0	G	110436745	A	G	110436745	2	3	408	1	0	0	0	0	0	0	0	1	7894	157	6	5		5	IRS2	13	110436745	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	116	110436745	4733133	2713	80531											
ING1	3621	broad.mit.edu	37	chr13	111371616	111371616	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctacgagcgcttcagTcgcgagacagacggggcgca	9	5	16	11	6	1	2	1	0	0	2	2	5	1	2	0	2	3	3	0	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:111371616T>C	ENST00000375774.3	+	2	1068	c.606T>C	c.(604-606)agT>agC	p.S202S	ING1_ENST00000333219.7_Silent_p.S59S|ING1_ENST00000338450.7_Silent_p.S15S|ING1_ENST00000375775.3_5'UTR|ING1_ENST00000464141.1_3'UTR	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	202					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGCGCTTCAGTCGCGAGACAG	0.647													35	89					0	0	0	0	C	111371616	T	C	111371616	2	2	408	1	0	0	0	0	0	0	0	1	7788	1664	58	5		5	ING1	13	111371616	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	934871	111371616	3798262	2714	80532											
MCF2L	23263	broad.mit.edu	37	chr13	113729502	113729502	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaccgccgcctggagaCggtaggccgagccggacccc	6	3	15	17	5	0	1	0	0	0	1	0	4	0	2	7	4	2	3	7	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:113729502C>T	ENST00000397030.1	+	11	1443	c.1407_splice	c.e11+1	p.T469_splice	MCF2L_ENST00000375597.4_Splice_Site_p.T434_splice|MCF2L_ENST00000423482.2_Splice_Site_p.T434_splice|MCF2L_ENST00000421756.1_Splice_Site_p.T440_splice|MCF2L_ENST00000375601.3_Splice_Site_p.T440_splice|MCF2L_ENST00000434480.2_Splice_Site_p.T442_splice|MCF2L_ENST00000375608.3_Splice_Site_p.T466_splice|MCF2L_ENST00000535094.2_Splice_Site_p.T436_splice|MCF2L_ENST00000375604.2_Splice_Site_p.T493_splice|MCF2L_ENST00000442652.2_Splice_Site_p.T466_splice			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	466					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGCCTGGAGACGGTAGGCCGA	0.687													4	29					0	0	0	0	T	113729502	C	T	113729502	5	4	408	1	0	0	0	0	0	0	1	0	9448	550	19	1	1615	1	MCF2L	13	113729502	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2357886	113729502	1440376	2715	80533											
PROZ	8858	broad.mit.edu	37	chr13	113826404	113826404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtactcactctggtttaaAcagatcatgaactaactgaa	15	11	7	8	0	3	3	2	2	1	1	3	3	3	3	0	2	4	2	0	2	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:113826404A>G	ENST00000342783.4	+	9	1261	c.1254A>G	c.(1252-1254)aaA>aaG	p.K418K	PROZ_ENST00000375547.2_Silent_p.K396K	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	396					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCTGGTTTAAACAGATCATGA	0.547													4	30					0	0	0	0	G	113826404	A	G	113826404	2	3	408	1	0	0	0	0	0	0	0	1	12642	40	2	5		5	PROZ	13	113826404	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	96902	113826404	1343474	2716	80534											
LAMP1	3916	broad.mit.edu	37	chr13	113975727	113975727	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctttttaagaatgcaagTtctagccggtttttcctaca	9	18	6	8	1	2	1	0	0	2	1	3	1	3	1	2	1	3	3	2	1	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:113975727T>C	ENST00000332556.4	+	7	1079	c.885T>C	c.(883-885)agT>agC	p.S295S	LAMP1_ENST00000397181.3_Silent_p.S242S	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	295	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AGAATGCAAGTTCTAGCCGGT	0.448													22	62					0	0	0	0	C	113975727	T	C	113975727	2	2	408	1	0	0	0	0	0	0	0	1	8670	1722	60	5		5	LAMP1	13	113975727	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	149323	113975727	1194151	2717	80535											
GRTP1	79774	broad.mit.edu	37	chr13	113980283	113980283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaccagcgggacaccAgcagcgtccacagcacaccg	13	2	11	15	3	0	2	0	1	0	1	1	3	1	3	4	1	5	2	4	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:113980283A>G	ENST00000375430.4	-	6	732	c.686T>C	c.(685-687)cTg>cCg	p.L229P	GRTP1_ENST00000375431.4_Missense_Mutation_p.L229P|GRTP1_ENST00000326039.3_Missense_Mutation_p.L151P			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	229	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGGGACACCAGCAGCGTCCA	0.697													27	88					0	0	0	0	G	113980283	A	G	113980283	3	3	408	1	0	0	0	0	1	0	0	0	6860	188	7	5	336	5	GRTP1	13	113980283	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4556	113980283	1189595	2718	80536											
OR4Q3	441669	broad.mit.edu	37	chr14	20215772	20215772	+	Frame_Shift_Del	DEL	T	T	-																															ctccaatctcctatgtattaTtttttaggtcatctctcttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20215772delT	ENST00000331723.1	+	1	186	c.186delT	c.(184-186)tafs	p.Y62fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTATTTTTTAGGTC	0.408													66	373	---	---	---	---					-	20215772	T	-	20215772	7	5	408	1	0	1	0	1	0	0	0	0	11152	1500	52	0	188	0	OR4Q3	14	20215772	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08		20215772	87133768	2719	80537											
OR4M1	441670	broad.mit.edu	37	chr14	20248750	20248750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacttctttgtggagaggaAgataatttcctttggtggat	10	15	12	4	0	1	3	0	0	1	3	2	6	2	5	1	4	0	0	1	4	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20248750A>G	ENST00000315957.4	+	1	350	c.269A>G	c.(268-270)aAg>aGg	p.K90R		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGAGAGGAAGATAATTTCC	0.443													9	648					0	0	0	0	G	20248750	A	G	20248750	3	3	408	1	0	0	0	0	1	0	0	0	11146	72	3	5	271	5	OR4M1	14	20248750	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	32978	20248750	87100790	2720	80538											
OR4K5	79317	broad.mit.edu	37	chr14	20389265	20389266	+	Frame_Shift_Ins	INS	-	-	T																															tcatttactgtgaacctgccINStttttgtggacctaatgtag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20389265_20389266insT	ENST00000315915.4	+	1	525_526	c.500_501insT	c.(499-501)cttfs	p.L167fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGAACCTGCCTTTTTGTGGAC	0.441													7	768	---	---	---	---					T	20389266	-	T	20389265	7	5	408	1	0	1	1	0	0	0	0	0	11144	681	24	0	502	0	OR4K5	14	20389265	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	140515	20389265	86960275	2721	80539											
OR4K1	79544	broad.mit.edu	37	chr14	20403872	20403872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctgagtttgtacttttggGactctctaattcctggggac	6	16	11	8	0	2	1	0	1	2	0	4	3	3	3	1	3	1	2	1	3	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20403872G>A	ENST00000285600.4	+	1	106	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTACTTTTGGGACTCTCTAAT	0.343													60	452					0	0	0	0	A	20403872	G	A	20403872	3	1	408	1	0	0	0	0	1	0	0	0	11138	1174	41	2	49	2	OR4K1	14	20403872	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	14607	20403872	86945668	2722	80540											
OR4K14	122740	broad.mit.edu	37	chr14	20482639	20482639	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgcagagcaagtggaGagtgctttggatgtgctacc	10	11	14	6	0	0	2	0	0	0	2	0	4	0	3	1	2	5	4	1	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20482639G>T	ENST00000305045.2	-	1	713	c.714C>A	c.(712-714)ctC>ctA	p.L238L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCAAGTGGAGAGTGCTTTGG	0.512													13	49					5.50884e-06	5.63245e-06	1	0	T	20482639	G	T	20482639	2	4	408	1	0	0	0	0	0	0	0	1	11140	929	33	2		2	OR4K14	14	20482639	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	78767	20482639	86866901	2723	80541											
OR4K17	390436	broad.mit.edu	37	chr14	20586438	20586438	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcatctttatctacatttgGcccttcggcaaccactctgt	7	15	6	13	1	3	0	0	0	3	0	4	0	3	0	2	2	3	2	2	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20586438G>A	ENST00000315543.4	+	1	873	c.873G>A	c.(871-873)tgG>tgA	p.W291*		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTACATTTGGCCCTTCGGCA	0.423													18	68					0	0	0	0	A	20586438	G	A	20586438	4	1	408	1	0	0	0	0	0	1	0	0	11142	1212	42	4	875	4	OR4K17	14	20586438	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	103799	20586438	86763102	2724	80542											
TEP1	7011	broad.mit.edu	37	chr14	20858878	20858879	+	Frame_Shift_Ins	INS	-	-	A																															agagacagcaggtatttcccINSaaaagtattcagggaccatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20858878_20858879insA	ENST00000262715.5	-	15	2335_2336	c.2295_2296insT	c.(2293-2298)ttggaafs	p.LE765fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.LE657fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	765					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGTATTTCCCAAAAGTATTCA	0.455													11	76	---	---	---	---					A	20858879	-	A	20858878	7	5	408	1	0	1	1	0	0	0	0	0	15853	594	21	0	5751	0	TEP1	14	20858878	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	272440	20858878	86490662	2725	80543											
TEP1	7011	broad.mit.edu	37	chr14	20876232	20876233	+	Frame_Shift_Del	DEL	AC	AC	-																															ctggaacaaggggctggcagAcacagtgctctttagactag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20876232_20876233delAC	ENST00000262715.5	-	2	406_407	c.366_367delGT	c.(364-369)gtctfs	p.VS122fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.VS122fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	122					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCTGGCAGACACAGTGCTCT	0.525													58	150	---	---	---	---					-	20876233	AC	-	20876232	7	5	408	1	0	1	0	1	0	0	0	0	15853	275	10	0	7732	0	TEP1	14	20876232	Frame_Shift_Del	DEL	AC	TCGA-F7-A624-01A-22D-A30E-08	17354	20876232	86473308	2726	80544											
TEP1	7011	broad.mit.edu	37	chr14	20876530	20876530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtaagtcagggagcatAgccaggcaccggttctccaa	10	7	13	11	1	2	0	1	0	1	0	3	1	2	1	3	4	2	5	3	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20876530A>G	ENST00000262715.5	-	2	109	c.69T>C	c.(67-69)gcT>gcC	p.A23A	TEP1_ENST00000556935.1_Silent_p.A23A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	23					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGGGAGCATAGCCAGGCACC	0.512													5	118					0	0	0	0	G	20876530	A	G	20876530	2	3	408	1	0	0	0	0	0	0	0	1	15853	407	15	5		5	TEP1	14	20876530	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	298	20876530	86473010	2727	80545											
APEX1	328	broad.mit.edu	37	chr14	20924986	20924986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtgggcctgctttccCgccagtgcccactcaaagtt	5	10	12	14	2	1	0	1	0	0	0	2	0	2	0	4	2	2	2	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20924986C>T	ENST00000216714.3	+	4	674	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	APEX1_ENST00000555414.1_Missense_Mutation_p.R136C|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000557054.1_Intron|APEX1_ENST00000398030.4_Missense_Mutation_p.R136C	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	136					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CCTGCTTTCCCGCCAGTGCCC	0.507								Other BER factors					3	31					0	0	0	0	T	20924986	C	T	20924986	3	4	408	1	0	0	0	0	1	0	0	0	770	652	23	1	416	1	APEX1	14	20924986	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	48456	20924986	86424554	2728	80546											
RNASE9	390443	broad.mit.edu	37	chr14	21024858	21024858	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacatttcctaattccattcTtacatggcacaaatctgttg	11	16	4	10	0	2	0	0	0	2	0	4	0	4	0	2	1	2	2	2	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21024858T>G	ENST00000557068.1	-	4	2096	c.371A>C	c.(370-372)aAg>aCg	p.K124T	RNASE9_ENST00000404716.3_Missense_Mutation_p.K129T|RNASE9_ENST00000553706.1_Missense_Mutation_p.K129T|RNASE9_ENST00000429244.2_Missense_Mutation_p.K124T|RNASE9_ENST00000553541.1_Missense_Mutation_p.K124T|RNASE9_ENST00000556208.1_Missense_Mutation_p.K129T|RNASE9_ENST00000555230.1_Missense_Mutation_p.K124T|RNASE9_ENST00000554964.1_Missense_Mutation_p.K124T|RNASE9_ENST00000338904.3_Missense_Mutation_p.K124T|RNASE9_ENST00000557209.1_Missense_Mutation_p.K129T			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	124						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		AATTCCATTCTTACATGGCAC	0.363													17	29					0	0	0	0	G	21024858	T	G	21024858	3	3	408	1	0	0	0	0	1	0	0	0	13495	1609	56	5	250	5	RNASE9	14	21024858	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	99872	21024858	86324682	2729	80547											
RNASE4	6038	broad.mit.edu	37	chr14	21167683	21167683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacaggtggcagtgatcgCtactgcaacttgatgatgca	11	9	13	8	1	0	4	0	3	0	1	1	5	0	4	0	2	4	4	0	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21167683C>T	ENST00000555835.1	+	2	829	c.153C>T	c.(151-153)cgC>cgT	p.R51R	RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Silent_p.R51R|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Silent_p.R51R|RNASE4_ENST00000397995.2_Silent_p.R51R	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	51					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GCAGTGATCGCTACTGCAACT	0.527													41	102					0	0	0	0	T	21167683	C	T	21167683	2	4	408	1	0	0	0	0	0	0	0	1	13491	784	28	4		4	RNASE4	14	21167683	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	142825	21167683	86181857	2730	80548											
HNRNPC	3183	broad.mit.edu	37	chr14	21679385	21679385	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaccccactatgtgcttaAgagtcatcctcgccattggc	10	11	7	13	1	1	1	1	0	0	1	3	1	2	1	4	1	2	1	4	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21679385A>G	ENST00000430246.2	-	8	3830	c.879T>C	c.(877-879)tcT>tcC	p.S293S	HNRNPC_ENST00000557201.1_Silent_p.S306S|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000556628.1_Silent_p.S226S|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000555883.1_Silent_p.S250S|HNRNPC_ENST00000555309.1_Silent_p.S305S|HNRNPC_ENST00000554969.1_Silent_p.S293S|HNRNPC_ENST00000555914.1_Silent_p.S292S|HNRNPC_ENST00000554455.1_Silent_p.S306S|HNRNPC_ENST00000556897.1_Silent_p.S293S|HNRNPC_ENST00000553300.1_Silent_p.S293S|HNRNPC_ENST00000449098.1_Silent_p.S293S|HNRNPC_ENST00000420743.2_Silent_p.S306S|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000320084.7_Silent_p.S306S			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	306	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TATGTGCTTAAGAGTCATCCT	0.433													21	146					0	0	0	0	G	21679385	A	G	21679385	2	3	408	1	0	0	0	0	0	0	0	1	7312	59	3	5		5	HNRNPC	14	21679385	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	511702	21679385	85670155	2731	80549											
HNRNPC	3183	broad.mit.edu	37	chr14	21681250	21681250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaataggaggaggaggaGgtacacgtgctgggtaactg	12	6	18	5	1	0	0	0	0	0	0	0	5	0	4	0	6	4	4	0	6	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21681250G>A	ENST00000430246.2	-	5	3343	c.392C>T	c.(391-393)cCt>cTt	p.P131L	HNRNPC_ENST00000557201.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000553753.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000556628.1_Missense_Mutation_p.P64L|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000555883.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000554969.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000555914.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556897.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000553300.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000449098.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P144L|HNRNPC_ENST00000336053.6_Missense_Mutation_p.P131L|HNRNPC_ENST00000320084.7_Missense_Mutation_p.P144L			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	144						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		AGGAGGAGGAGGTACACGTGC	0.443													45	75					0	0	0	0	A	21681250	G	A	21681250	3	1	408	1	0	0	0	0	1	0	0	0	7312	1000	35	4	505	4	HNRNPC	14	21681250	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1865	21681250	85668290	2732	80550											
SUPT16H	11198	broad.mit.edu	37	chr14	21826538	21826538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcctctactttctcaaTgaaatttttaaaggctgttt	11	17	6	7	0	2	2	1	1	2	1	3	2	2	2	1	1	2	2	1	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21826538T>C	ENST00000216297.2	-	20	2688	c.2350A>G	c.(2350-2352)Att>Gtt	p.I784V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	784					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACTTTCTCAATGAAATTTTTA	0.368													6	72					0	0	0	0	C	21826538	T	C	21826538	3	2	408	1	0	0	0	0	1	0	0	0	15486	1464	51	5	821	5	SUPT16H	14	21826538	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	145288	21826538	85523002	2733	80551											
SUPT16H	11198	broad.mit.edu	37	chr14	21829058	21829058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgggcaatatttgggCgaatgtatagatctttcagt	9	17	10	5	1	3	1	1	0	2	1	3	2	3	1	0	2	0	2	0	2	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21829058C>T	ENST00000216297.2	-	17	2341	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	668					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATATTTGGGCGAATGTATAG	0.423													28	64					0	0	0	0	T	21829058	C	T	21829058	3	4	408	1	0	0	0	0	1	0	0	0	15486	768	27	1	1180	1	SUPT16H	14	21829058	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2520	21829058	85520482	2734	80552											
SUPT16H	11198	broad.mit.edu	37	chr14	21836475	21836475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgaagctggagcaaaaagTtataattttcttgaacttct	13	15	7	6	0	2	2	0	2	2	0	2	3	2	3	0	1	3	3	0	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21836475T>C	ENST00000216297.2	-	7	1246	c.908A>G	c.(907-909)aAc>aGc	p.N303S		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	303					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GAGCAAAAAGTTATAATTTTC	0.408													9	99					0	0	0	0	C	21836475	T	C	21836475	3	2	408	1	0	0	0	0	1	0	0	0	15486	1725	60	5	2315	5	SUPT16H	14	21836475	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7417	21836475	85513065	2735	80553											
TOX4	9878	broad.mit.edu	37	chr14	21960674	21960674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcttttaggccactgTggaaacagtggaattggatc	9	14	11	7	0	2	0	0	0	2	0	3	3	2	3	1	4	1	0	1	4	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21960674T>C	ENST00000405508.1	+	8	1175	c.899T>C	c.(898-900)gTg>gCg	p.V300A	TOX4_ENST00000448790.2_Missense_Mutation_p.V277A|TOX4_ENST00000262709.3_Missense_Mutation_p.V300A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	300						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TAGGCCACTGTGGAAACAGTG	0.408													10	195					0	0	0	0	C	21960674	T	C	21960674	3	2	408	1	0	0	0	0	1	0	0	0	16475	1696	59	5	925	5	TOX4	14	21960674	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	124199	21960674	85388866	2736	80554											
ABHD4	63874	broad.mit.edu	37	chr14	23070609	23070609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctggctgcccacgtggCgccccacttccatgtctcag	5	9	11	16	2	1	0	1	0	1	0	3	0	2	0	4	2	2	3	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23070609C>T	ENST00000428304.2	+	2	131	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	21					lipid catabolic process		hydrolase activity	p.R21C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		GCCCACGTGGCGCCCCACTTC	0.542													29	84					0	0	0	0	T	23070609	C	T	23070609	3	4	408	1	0	0	0	0	1	0	0	0	84	768	27	1	67	1	ABHD4	14	23070609	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1109935	23070609	84278931	2737	80555											
MMP14	4323	broad.mit.edu	37	chr14	23313942	23313942	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacaagattgatgctgcTctcttctggatgcccaatgg	9	11	10	11	1	2	2	0	1	2	1	3	4	2	3	2	2	3	2	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23313942T>G	ENST00000311852.6	+	8	1515	c.1254T>G	c.(1252-1254)gcT>gcG	p.A418A	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	418	Hemopexin-like 3.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TTGATGCTGCTCTCTTCTGGA	0.552													13	141					0	0	0	0	G	23313942	T	G	23313942	2	3	408	1	0	0	0	0	0	0	0	1	9722	1538	54	5		5	MMP14	14	23313942	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	243333	23313942	84035598	2738	80556											
C14orf93	60686	broad.mit.edu	37	chr14	23456766	23456766	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcttcatctgacatcagTtcctctgtcacatcattcca	8	15	3	15	0	7	1	4	1	3	0	10	1	10	1	3	0	0	1	3	0	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23456766T>C	ENST00000299088.6	-	7	1704	c.1275A>G	c.(1273-1275)gaA>gaG	p.E425E	C14orf93_ENST00000341470.4_Silent_p.E425E|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Silent_p.E425E|C14orf93_ENST00000397377.1_Silent_p.E245E|C14orf93_ENST00000397379.3_Silent_p.E425E|C14orf93_ENST00000397382.4_Silent_p.E425E|RP11-298I3.4_ENST00000557615.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	425						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTGACATCAGTTCCTCTGTCA	0.557													5	70					0	0	0	0	C	23456766	T	C	23456766	2	2	408	1	0	0	0	0	0	0	0	1	1794	1722	60	5		5	C14orf93	14	23456766	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	142824	23456766	83892774	2739	80557											
C14orf93	60686	broad.mit.edu	37	chr14	23457145	23457145	+	Frame_Shift_Del	DEL	T	T	-																															cttcgaagtttcttctcctcTttttccttcaggcctttaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23457145delT	ENST00000299088.6	-	6	1593	c.1164delA	c.(1162-1164)aafs	p.K388fs	C14orf93_ENST00000406429.2_Frame_Shift_Del_p.K388fs|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397382.4_Frame_Shift_Del_p.K388fs|C14orf93_ENST00000397379.3_Frame_Shift_Del_p.K388fs|C14orf93_ENST00000397377.1_Frame_Shift_Del_p.K208fs|C14orf93_ENST00000341470.4_Frame_Shift_Del_p.K388fs|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	388						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCTTCTCCTCTTTTTCCTTCA	0.507													47	114	---	---	---	---					-	23457145	T	-	23457145	7	5	408	1	0	1	0	1	0	0	0	0	1794	1606	56	0	460	0	C14orf93	14	23457145	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	379	23457145	83892395	2740	80558											
PSMB5	5693	broad.mit.edu	37	chr14	23495455	23495455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctcgacgggccagatcaTaggcctgctccacttccagg	7	8	12	14	2	1	1	1	0	0	1	4	2	3	1	4	4	1	2	4	4	1	2	rs60224002		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23495455T>C	ENST00000361611.6	-	3	898	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000460922.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.Y109C	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	212					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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GGCCAGATCATAGGCCTGCTC	0.567													28	227					0	0	0	0	C	23495455	T	C	23495455	3	2	408	1	0	0	0	0	1	0	0	0	12759	1406	49	5	160	5	PSMB5	14	23495455	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38310	23495455	83854085	2741	80559											
CDH24	64403	broad.mit.edu	37	chr14	23523833	23523835	+	In_Frame_Del	DEL	CTC	CTC	-																															gcctggatcaccaccaagaaCtcctcctgtgtctcccggtc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23523833_23523835delCTC	ENST00000397359.3	-	5	923_925	c.664_666delGAG	c.(664-666)del	p.E222del	CDH24_ENST00000267383.5_In_Frame_Del_p.E222del|CDH24_ENST00000554034.1_In_Frame_Del_p.E222del|CDH24_ENST00000487137.2_In_Frame_Del_p.E222del	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	222	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCACCAAGAACTCCTCCTGTGTC	0.626											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	98	---	---	---	---					-	23523835	CTC	-	23523833	7	5	408	1	0	1	0	1	0	0	0	0	3138	564	20	0	1829	0	CDH24	14	23523833	In_Frame_Del	DEL	CTC	TCGA-F7-A624-01A-22D-A30E-08	28378	23523833	83825707	2742	80560											
ACIN1	22985	broad.mit.edu	37	chr14	23549361	23549361	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctgtattaggaggagAtaactgaatgaggacagcgg	14	8	14	5	1	1	3	0	2	1	1	1	6	1	5	0	4	3	2	0	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23549361A>C	ENST00000262710.1	-	6	1684	c.1357T>G	c.(1357-1359)Tct>Gct	p.S453A	ACIN1_ENST00000605057.1_Missense_Mutation_p.S395A|ACIN1_ENST00000555053.1_Missense_Mutation_p.S453A|ACIN1_ENST00000457657.1_Missense_Mutation_p.S413A	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	453					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTAGGAGGAGATAACTGAATG	0.502													4	125					0	0	0	0	C	23549361	A	C	23549361	3	2	408	1	0	0	0	0	1	0	0	0	142	333	12	5	2871	5	ACIN1	14	23549361	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	25528	23549361	83800179	2743	80561											
SLC7A8	23428	broad.mit.edu	37	chr14	23635670	23635670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcccgtcacaatccagacGatgagagcaaggcccacaga	15	3	10	13	2	1	3	1	1	0	3	2	5	2	3	3	1	2	1	3	1	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23635670G>A	ENST00000316902.7	-	2	956	c.231C>T	c.(229-231)atC>atT	p.I77I	SLC7A8_ENST00000469263.1_Silent_p.I77I	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	77					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAATCCAGACGATGAGAGCAA	0.542													91	346					0	0	0	0	A	23635670	G	A	23635670	2	1	408	1	0	0	0	0	0	0	0	1	14792	1048	37	1		1	SLC7A8	14	23635670	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	86309	23635670	83713870	2744	80562											
HOMEZ	57594	broad.mit.edu	37	chr14	23745593	23745593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagaggaagaagagggagTaacactagatgctgactcct	14	7	14	6	0	0	5	0	1	0	4	1	7	1	7	1	3	2	3	1	3	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23745593T>C	ENST00000357460.5	-	2	1008	c.844A>G	c.(844-846)Act>Gct	p.T282A	HOMEZ_ENST00000561013.1_Missense_Mutation_p.T284A|HOMEZ_ENST00000431326.2_Missense_Mutation_p.T284A	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	282						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GAAGAGGGAGTAACACTAGAT	0.527													22	39					0	0	0	0	C	23745593	T	C	23745593	3	2	408	1	0	0	0	0	1	0	0	0	7331	1638	57	5	812	5	HOMEZ	14	23745593	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	109923	23745593	83603947	2745	80563											
MYH6	4624	broad.mit.edu	37	chr14	23862231	23862231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcgctccaggtccatGcgcaccttcttctcttgctc	3	15	7	16	2	2	0	0	0	2	0	7	0	4	0	3	1	3	4	3	1	0	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23862231G>A	ENST00000405093.3	-	24	3211	c.3141C>T	c.(3139-3141)cgC>cgT	p.R1047R	MYH6_ENST00000356287.3_Silent_p.R1047R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1047					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGGTCCATGCGCACCTTCT	0.493													29	80					0	0	0	0	A	23862231	G	A	23862231	2	1	408	1	0	0	0	0	0	0	0	1	10108	1306	46	4		4	MYH6	14	23862231	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	116638	23862231	83487309	2746	80564											
MYH7	4625	broad.mit.edu	37	chr14	23900121	23900121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcacccagcagctcaGgctttttgttagacaggatt	9	12	9	11	0	2	2	2	1	0	1	2	3	2	3	1	2	2	4	1	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23900121G>T	ENST00000355349.3	-	10	1046	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	295	Myosin head-like.				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			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)		CAGCAGCTCAGGCTTTTTGTT	0.498													18	217					2.35188e-11	2.44398e-11	1	0	T	23900121	G	T	23900121	3	4	408	1	0	0	0	0	1	0	0	0	10109	1000	35	4	5047	4	MYH7	14	23900121	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	37890	23900121	83449419	2747	80565											
JPH4	84502	broad.mit.edu	37	chr14	24040173	24040173	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggttgcagcgggctccccGagctcttctgtcaggcaccc	4	9	12	16	3	3	0	1	0	2	0	5	1	4	0	3	3	3	5	3	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24040173G>A	ENST00000397118.3	-	6	2669	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	JPH4_ENST00000544177.1_Silent_p.L254L|JPH4_ENST00000356300.4_Silent_p.L589L	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	589					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CGGGCTCCCCGAGCTCTTCTG	0.667													12	32					0	0	0	0	A	24040173	G	A	24040173	2	1	408	1	0	0	0	0	0	0	0	1	8016	1045	37	1		1	JPH4	14	24040173	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	140052	24040173	83309367	2748	80566											
LRRC16B	90668	broad.mit.edu	37	chr14	24524815	24524815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaaactctactgcaaGgacttgcggctggtaggaac	11	9	10	11	1	2	0	1	0	1	0	2	2	2	2	1	4	5	3	1	4	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24524815G>T	ENST00000342740.5	+	9	823	c.669G>T	c.(667-669)aaG>aaT	p.K223N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	223										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCTACTGCAAGGACTTGCGGC	0.597													37	116					7.04047e-22	7.4361e-22	1	0	T	24524815	G	T	24524815	3	4	408	1	0	0	0	0	1	0	0	0	9036	991	35	4	703	4	LRRC16B	14	24524815	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	484642	24524815	82824725	2749	80567											
LRRC16B	90668	broad.mit.edu	37	chr14	24534907	24534907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccaagggttcacggtgttgCccttcccgggttggaaagag	7	9	15	10	2	1	1	1	0	0	1	2	2	2	2	3	4	1	3	3	4	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24534907C>T	ENST00000342740.5	+	34	3627	c.3473C>T	c.(3472-3474)gCc>gTc	p.A1158V	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1158										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CACGGTGTTGCCCTTCCCGGG	0.587													41	124					0	0	0	0	T	24534907	C	T	24534907	3	4	408	1	0	0	0	0	1	0	0	0	9036	739	26	4	3607	4	LRRC16B	14	24534907	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	10092	24534907	82814633	2750	80568											
REC8	9985	broad.mit.edu	37	chr14	24648626	24648628	+	In_Frame_Del	DEL	GAG	GAG	-																															tctccctagaggcagctgaaGaggagaagtcccgcatcagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24648626_24648628delGAG	ENST00000311457.3	+	17	1872_1874	c.1273_1275delGAG	c.(1273-1275)del	p.E426del	REC8_ENST00000559919.1_In_Frame_Del_p.E426del			O95072	REC8_HUMAN	REC8 meiotic recombination protein	427	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GGCAGCTGAAGAGGAGAAGTCCC	0.616													59	185	---	---	---	---					-	24648628	GAG	-	24648626	7	5	408	1	0	1	0	1	0	0	0	0	13281	943	33	0	1335	0	REC8	14	24648626	In_Frame_Del	DEL	GAG	TCGA-F7-A624-01A-22D-A30E-08	113719	24648626	82700914	2751	80569											
IPO4	79711	broad.mit.edu	37	chr14	24650800	24650800	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtcctccttcagtggcagGgcatgcagtagggcagccag	9	7	14	11	0	1	0	1	0	0	0	3	0	3	0	3	3	2	5	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24650800G>T	ENST00000354464.6	-	28	3140	c.2964C>A	c.(2962-2964)gcC>gcA	p.A988A	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	988					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCAGTGGCAGGGCATGCAGTA	0.622													4	27					0.00024832	0.000251724	1	0	T	24650800	G	T	24650800	2	4	408	1	0	0	0	0	0	0	0	1	7848	1219	43	4		4	IPO4	14	24650800	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2174	24650800	82698740	2752	80570											
IPO4	79711	broad.mit.edu	37	chr14	24656326	24656326	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtctgcatggccatgaTcagcttgggcaccaacatcc	10	8	10	13	0	2	2	1	1	1	1	3	2	3	2	3	2	3	3	3	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24656326T>A	ENST00000354464.6	-	7	795	c.619A>T	c.(619-621)Atc>Ttc	p.I207F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	207					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ATGGCCATGATCAGCTTGGGC	0.572													34	377					0	0	0	0	A	24656326	T	A	24656326	3	1	408	1	0	0	0	0	1	0	0	0	7848	1435	50	5	2722	5	IPO4	14	24656326	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5526	24656326	82693214	2753	80571											
ADCY4	196883	broad.mit.edu	37	chr14	24791326	24791326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtgtgcagggagcacGttctccaagagcagccgagt	9	6	14	12	3	1	1	0	0	1	1	2	3	1	2	3	1	4	4	3	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24791326G>A	ENST00000310677.4	-	21	2645	c.2532C>T	c.(2530-2532)aaC>aaT	p.N844N	ADCY4_ENST00000418030.2_Silent_p.N844N|ADCY4_ENST00000554068.2_Silent_p.N844N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	844					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGGGAGCACGTTCTCCAAGA	0.612													5	190					0	0	0	0	A	24791326	G	A	24791326	2	1	408	1	0	0	0	0	0	0	0	1	296	1136	40	1		1	ADCY4	14	24791326	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	135000	24791326	82558214	2754	80572											
STXBP6	29091	broad.mit.edu	37	chr14	25288463	25288463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccacagtgaccagactccGgcagggtgagtatcctgtaa	11	7	11	12	1	0	3	0	2	0	1	2	3	2	3	4	2	0	3	4	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:25288463G>A	ENST00000548369.1	-	1	220	c.83C>T	c.(82-84)cCg>cTg	p.P28L	STXBP6_ENST00000546511.1_Intron|STXBP6_ENST00000323944.5_Intron|STXBP6_ENST00000548724.1_Intron|STXBP6_ENST00000358326.2_Intron|STXBP6_ENST00000396700.1_Intron|STXBP6_ENST00000550887.1_Intron|STXBP6_ENST00000419632.2_Intron			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	0					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		ACCAGACTCCGGCAGGGTGAG	0.532													17	42					0	0	0	0	A	25288463	G	A	25288463	3	1	408	1	0	0	0	0	1	0	0	0	15448	1131	39	1		1	STXBP6	14	25288463	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	497137	25288463	82061077	2755	80573											
NOVA1	4857	broad.mit.edu	37	chr14	26917503	26917503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctccaaaatatccatTggttgcagcagtagcagcag	13	8	10	10	0	0	0	0	0	0	0	2	0	2	0	2	1	6	8	2	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:26917503T>C	ENST00000539517.2	-	5	1503	c.1186A>G	c.(1186-1188)Aat>Gat	p.N396D	NOVA1_ENST00000465357.2_Missense_Mutation_p.N372D|NOVA1_ENST00000267422.7_Missense_Mutation_p.N274D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	399	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			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)		AAATATCCATTGGTTGCAGCA	0.537													14	45					0	0	0	0	C	26917503	T	C	26917503	3	2	408	1	0	0	0	0	1	0	0	0	10624	1812	63	5	341	5	NOVA1	14	26917503	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1629040	26917503	80432037	2756	80574											
PRKD1	5587	broad.mit.edu	37	chr14	30107747	30107747	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggtactttcggtgcacaAcgtttatggcagttgaatct	8	16	10	7	2	1	1	0	1	1	0	2	1	1	1	0	3	3	5	0	3	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:30107747A>G	ENST00000331968.5	-	6	1162	c.933T>C	c.(931-933)cgT>cgC	p.R311R	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.R319R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	311					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCGGTGCACAACGTTTATGGC	0.373													23	90					0	0	0	0	G	30107747	A	G	30107747	2	3	408	1	0	0	0	0	0	0	0	1	12598	30	2	5		5	PRKD1	14	30107747	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3190244	30107747	77241793	2757	80575											
PRKD1	5587	broad.mit.edu	37	chr14	30108090	30108090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctctcgaccaataaaCgactctgatggtgatttttg	9	15	7	10	2	3	2	0	2	3	0	5	4	3	2	1	1	1	0	1	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:30108090C>T	ENST00000331968.5	-	5	946	c.717G>A	c.(715-717)tcG>tcA	p.S239S	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.S247S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	239					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACCAATAAACGACTCTGATG	0.338													16	51					0	0	0	0	T	30108090	C	T	30108090	2	4	408	1	0	0	0	0	0	0	0	1	12598	523	19	1		1	PRKD1	14	30108090	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	343	30108090	77241450	2758	80576											
STRN3	29966	broad.mit.edu	37	chr14	31381256	31381256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggttccaaagtttcagggTatggtcctcagaagcagtaa	12	10	11	8	0	2	1	2	0	0	1	4	1	4	1	2	3	1	5	2	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31381256T>C	ENST00000355683.5	-	9	1470	c.1255A>G	c.(1255-1257)Acc>Gcc	p.T419A	STRN3_ENST00000357479.5_Missense_Mutation_p.T503A	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	435					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGTTTCAGGGTATGGTCCTCA	0.398													6	166					0	0	0	0	C	31381256	T	C	31381256	3	2	408	1	0	0	0	0	1	0	0	0	15420	1638	57	5	918	5	STRN3	14	31381256	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1273166	31381256	75968284	2759	80577											
STRN3	29966	broad.mit.edu	37	chr14	31420119	31420119	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaactggctattctgaggTgctgtgggagcctctgtgtc	5	14	14	8	0	2	1	0	1	2	0	3	2	2	2	1	3	3	3	1	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31420119T>C	ENST00000355683.5	-	4	707	c.492A>G	c.(490-492)gcA>gcG	p.A164A	STRN3_ENST00000357479.5_Silent_p.A164A	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	164					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATTCTGAGGTGCTGTGGGAG	0.348													24	91					0	0	0	0	C	31420119	T	C	31420119	2	2	408	1	0	0	0	0	0	0	0	1	15420	1683	59	5		5	STRN3	14	31420119	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38863	31420119	75929421	2760	80578											
HECTD1	25831	broad.mit.edu	37	chr14	31583197	31583197	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattcttctgcaggtaggtTatcaagtcattctttggtaa	9	16	9	7	0	5	0	2	0	3	0	5	0	5	0	0	3	1	5	0	3	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31583197T>C	ENST00000399332.1	-	32	6230	c.5742A>G	c.(5740-5742)atA>atG	p.I1914M	HECTD1_ENST00000553700.1_Missense_Mutation_p.I1914M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1914					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCAGGTAGGTTATCAAGTCAT	0.423													13	45					0	0	0	0	C	31583197	T	C	31583197	3	2	408	1	0	0	0	0	1	0	0	0	7089	1744	61	5	2138	5	HECTD1	14	31583197	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	163078	31583197	75766343	2761	80579											
HECTD1	25831	broad.mit.edu	37	chr14	31644179	31644179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaatttctaaagaagaatCttgaggctccattttgccac	14	12	6	9	0	2	3	0	1	2	2	3	3	3	3	2	1	1	1	2	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31644179C>T	ENST00000399332.1	-	4	1029	c.541G>A	c.(541-543)Gat>Aat	p.D181N	HECTD1_ENST00000553700.1_Missense_Mutation_p.D181N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	181					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAAGAAGAATCTTGAGGCTCC	0.378													19	72					0	0	0	0	T	31644179	C	T	31644179	3	4	408	1	0	0	0	0	1	0	0	0	7089	913	32	2	7451	2	HECTD1	14	31644179	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	60982	31644179	75705361	2762	80580											
AKAP6	9472	broad.mit.edu	37	chr14	33014698	33014698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacttacggtagctgctgActctatctctaccaatggca	9	14	7	11	1	2	1	0	1	2	0	3	1	2	1	1	2	5	4	1	2	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:33014698A>G	ENST00000280979.4	+	4	1009	c.839A>G	c.(838-840)gAc>gGc	p.D280G	AKAP6_ENST00000557354.1_Missense_Mutation_p.D280G|AKAP6_ENST00000557272.1_Missense_Mutation_p.D280G	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	280					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTAGCTGCTGACTCTATCTCT	0.448													47	145					0	0	0	0	G	33014698	A	G	33014698	3	3	408	1	0	0	0	0	1	0	0	0	455	275	10	5	849	5	AKAP6	14	33014698	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1370519	33014698	74334842	2763	80581											
AKAP6	9472	broad.mit.edu	37	chr14	33292165	33292165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagatcccggaatcgaatGcatcgttcaggaagcgtctg	12	8	11	10	4	2	1	1	0	1	1	5	4	3	3	1	2	2	2	1	2	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:33292165G>C	ENST00000280979.4	+	13	5316	c.5146G>C	c.(5146-5148)Gca>Cca	p.A1716P	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1716					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGAATCGAATGCATCGTTCAG	0.468													6	171					0	0	0	0	C	33292165	G	C	33292165	3	2	408	1	0	0	0	0	1	0	0	0	455	1319	46	4	5192	4	AKAP6	14	33292165	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	277467	33292165	74057375	2764	80582											
PPP2R3C	55012	broad.mit.edu	37	chr14	35568532	35568532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggagtagaaagattttTccagaccatctaattgtggc	15	11	9	6	0	1	3	0	0	1	3	2	4	2	4	2	2	0	1	2	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:35568532T>C	ENST00000261475.5	-	7	985	c.632A>G	c.(631-633)gAa>gGa	p.E211G		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	211						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GAAAGATTTTTCCAGACCATC	0.308													15	32					0	0	0	0	C	35568532	T	C	35568532	3	2	408	1	0	0	0	0	1	0	0	0	12466	1783	62	5	757	5	PPP2R3C	14	35568532	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2276367	35568532	71781008	2765	80583											
KIAA0391	9692	broad.mit.edu	37	chr14	35742694	35742694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggagactcgtggcacatAccatatgatgaagacttggt	12	10	11	8	1	0	4	0	2	0	2	1	5	0	4	1	3	1	1	1	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:35742694A>G	ENST00000557565.1	+	8	2055	c.1674A>G	c.(1672-1674)atA>atG	p.I558M	KIAA0391_ENST00000603544.1_Missense_Mutation_p.I542M|KIAA0391_ENST00000604948.1_Missense_Mutation_p.I463M|KIAA0391_ENST00000605870.1_Missense_Mutation_p.I186M|KIAA0391_ENST00000534898.4_Missense_Mutation_p.I558M|KIAA0391_ENST00000250377.7_Missense_Mutation_p.I463M|KIAA0391_ENST00000321130.10_Missense_Mutation_p.I542M			O15091	MRRP3_HUMAN	KIAA0391	558					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGTGGCACATACCATATGATG	0.408													12	43					0	0	0	0	G	35742694	A	G	35742694	3	3	408	1	0	0	0	0	1	0	0	0	8223	381	14	5	1700	5	KIAA0391	14	35742694	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	174162	35742694	71606846	2766	80584											
BRMS1L	84312	broad.mit.edu	37	chr14	36337211	36337211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtggacaaacaatatgtaTtgataaaaaagatgaatgtc	19	10	8	4	1	0	3	0	2	0	1	1	4	0	4	0	1	1	1	0	1	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:36337211T>C	ENST00000216807.7	+	9	1026	c.827T>C	c.(826-828)aTt>aCt	p.I276T	BRMS1L_ENST00000543183.1_Missense_Mutation_p.I228T	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	276					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ACAATATGTATTGATAAAAAA	0.353													4	84					0	0	0	0	C	36337211	T	C	36337211	3	2	408	1	0	0	0	0	1	0	0	0	1525	1493	52	5	861	5	BRMS1L	14	36337211	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	594517	36337211	71012329	2767	80585											
SLC25A21	89874	broad.mit.edu	37	chr14	37153064	37153064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcataatcttgggaagcagGcctttgtacaaagctaaaat	14	11	8	8	0	2	0	1	0	1	0	2	1	2	1	1	2	3	3	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:37153064G>A	ENST00000331299.5	-	9	1322	c.807C>T	c.(805-807)ggC>ggT	p.G269G	SLC25A21_ENST00000555449.1_Silent_p.G269G	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	269					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGGAAGCAGGCCTTTGTACA	0.343													6	28					0	0	0	0	A	37153064	G	A	37153064	2	1	408	1	0	0	0	0	0	0	0	1	14572	1190	42	4		4	SLC25A21	14	37153064	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	815853	37153064	70196476	2768	80586											
MIPOL1	145282	broad.mit.edu	37	chr14	37777705	37777705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcactaatagaagaacGggatgctgccttgtctaagg	12	9	13	7	1	1	2	0	0	1	2	1	4	1	3	1	2	4	2	1	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:37777705G>A	ENST00000327441.7	+	10	1275	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	MIPOL1_ENST00000536774.1_Missense_Mutation_p.R89Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.R239Q|MIPOL1_ENST00000556451.1_Missense_Mutation_p.R239Q|MIPOL1_ENST00000396294.2_Missense_Mutation_p.R270Q|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R270Q|MIPOL1_ENST00000539062.2_Missense_Mutation_p.R239Q	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	270										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATAGAAGAACGGGATGCTGCC	0.348													33	90					0	0	0	0	A	37777705	G	A	37777705	3	1	408	1	0	0	0	0	1	0	0	0	9662	1116	39	1	835	1	MIPOL1	14	37777705	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	624641	37777705	69571835	2769	80587											
CTAGE5	4253	broad.mit.edu	37	chr14	39815160	39815160	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaggcaagacagattttgTtctaattctggtagactgtc	12	13	9	7	0	2	3	0	0	2	3	3	3	2	3	0	2	0	3	0	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:39815160T>C	ENST00000553728.1	+	25	3702	c.3489T>C	c.(3487-3489)tgT>tgC	p.C1163C	CTAGE5_ENST00000341502.5_Silent_p.C628C|CTAGE5_ENST00000556148.1_Silent_p.C553C|CTAGE5_ENST00000348007.3_Silent_p.C585C|CTAGE5_ENST00000557038.1_Silent_p.C548C|CTAGE5_ENST00000396165.4_Silent_p.C599C|CTAGE5_ENST00000341749.3_Silent_p.C616C|CTAGE5_ENST00000280083.3_Silent_p.C628C|RP11-407N17.3_ENST00000603904.1_Silent_p.C599C|CTAGE5_ENST00000553352.1_Silent_p.C599C|CTAGE5_ENST00000396158.2_Silent_p.C633C																							ACAGATTTTGTTCTAATTCTG	0.333													8	95					0	0	0	0	C	39815160	T	C	39815160	2	2	408	1	0	0	0	0	0	0	0	1	4026	1731	60	5		5	CTAGE5	14	39815160	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2037455	39815160	67534380	2770	80588											
CTAGE5	4253	broad.mit.edu	37	chr14	39818098	39818098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctcctttccccccacCtcctccaggagccatgtttg	6	10	7	18	0	0	0	0	0	0	0	4	2	4	2	9	2	1	1	9	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:39818098C>A	ENST00000553728.1	+	27	3983	c.3770C>A	c.(3769-3771)cCt>cAt	p.P1257H	CTAGE5_ENST00000341502.5_Missense_Mutation_p.P722H|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P647H|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P679H|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P642H|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P693H|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P710H|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P722H|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P693H|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P693H|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P727H|CTAGE5_ENST00000553383.1_3'UTR																							TTCCCCCCACCTCCTCCAGGA	0.507													15	269					2.32078e-09	2.39896e-09	1	0	A	39818098	C	A	39818098	3	1	408	1	0	0	0	0	1	0	0	0	4026	681	24	4	2286	4	CTAGE5	14	39818098	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2938	39818098	67531442	2771	80589											
LRFN5	145581	broad.mit.edu	37	chr14	42357119	42357119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaagctacatcatcaacgGcactacttaaatttaatttt	15	13	4	9	1	2	1	2	0	0	1	2	1	2	1	0	1	4	2	0	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:42357119G>A	ENST00000554171.1	+	5	3723	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	LRFN5_ENST00000298119.4_Missense_Mutation_p.A431T|LRFN5_ENST00000554120.1_Missense_Mutation_p.A431T			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	431	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATCATCAACGGCACTACTTAA	0.353										HNSCC(30;0.082)			18	41					0	0	0	0	A	42357119	G	A	42357119	3	1	408	1	0	0	0	0	1	0	0	0	9005	1203	42	4	1293	4	LRFN5	14	42357119	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2539021	42357119	64992421	2772	80590											
FSCB	84075	broad.mit.edu	37	chr14	44975760	44975760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttctacaggggggatgTtcatcatggtccagtatcct	7	15	10	9	0	3	0	2	0	1	0	5	1	5	1	2	4	1	2	2	4	2	5	rs34582231	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:44975760T>C	ENST00000340446.4	-	1	722	c.431A>G	c.(430-432)aAc>aGc	p.N144S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	144						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGGGGGGATGTTCATCATGGT	0.413													18	243					0	0	0	0	C	44975760	T	C	44975760	3	2	408	1	0	0	0	0	1	0	0	0	6114	1725	60	5	2050	5	FSCB	14	44975760	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2618641	44975760	62373780	2773	80591											
NIN	51199	broad.mit.edu	37	chr14	51259517	51259517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcaggaaactcctccacGgactcttggaactcgggcaa	11	8	9	13	2	2	0	1	0	1	0	5	3	4	3	2	4	2	1	2	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:51259517G>A	ENST00000245441.5	-	5	538	c.348C>T	c.(346-348)tcC>tcT	p.S116S	NIN_ENST00000486200.1_5'UTR|NIN_ENST00000453196.1_Silent_p.S116S|NIN_ENST00000382043.4_Silent_p.S116S|NIN_ENST00000324330.9_Silent_p.S116S|NIN_ENST00000382041.3_Silent_p.S116S|NIN_ENST00000389868.3_Silent_p.S116S|NIN_ENST00000530997.2_Silent_p.S116S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	116					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACTCCTCCACGGACTCTTGGA	0.547			T	PDGFRB	MPD								29	77					0	0	0	0	A	51259517	G	A	51259517	2	1	408	1	0	0	0	0	0	0	0	1	10487	1103	39	1		1	NIN	14	51259517	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6283757	51259517	56090023	2774	80592											
STYX	6815	broad.mit.edu	37	chr14	53235559	53235559	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacttattttttttttaggAatatgaagccatctacctag	12	18	5	6	0	1	1	0	1	1	0	1	2	1	2	2	1	3	0	2	1	8	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:53235559A>G	ENST00000354586.4	+	10	799	c.504_splice	c.e10-1	p.E169_splice	STYX_ENST00000442123.2_Splice_Site_p.E169_splice|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	169					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					tttttttaGGAATATGAAGCC	0.303													34	47					0	0	0	0	G	53235559	A	G	53235559	5	3	408	1	0	0	0	0	0	0	1	0	15450	260	9	5	544	5	STYX	14	53235559	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1976042	53235559	54113981	2775	80593											
FERMT2	10979	broad.mit.edu	37	chr14	53348085	53348085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttctgacaaagcactgTcaccaaaccaagcagaagtt	14	8	7	12	0	2	2	1	1	1	1	2	2	2	2	3	0	4	3	3	0	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:53348085T>C	ENST00000395631.2	-	5	845	c.629A>G	c.(628-630)gAc>gGc	p.D210G	FERMT2_ENST00000553373.1_Missense_Mutation_p.D210G|FERMT2_ENST00000399304.3_Missense_Mutation_p.D210G|FERMT2_ENST00000341590.3_Missense_Mutation_p.D210G|FERMT2_ENST00000343279.4_Missense_Mutation_p.D210G			Q96AC1	FERM2_HUMAN	fermitin family member 2	210	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CAAAGCACTGTCACCAAACCA	0.438													4	213					0	0	0	0	C	53348085	T	C	53348085	3	2	408	1	0	0	0	0	1	0	0	0	5863	1667	58	5	1494	5	FERMT2	14	53348085	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	112526	53348085	54001455	2776	80594											
DLGAP5	9787	broad.mit.edu	37	chr14	55649131	55649131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctttgaccttgtaatcCgtacagaagatggaatagcc	11	11	10	9	1	0	3	0	1	0	2	1	4	1	4	4	2	2	2	4	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:55649131C>T	ENST00000247191.2	-	4	668	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R151Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	151					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTTGTAATCCGTACAGAAGA	0.313													32	102					0	0	0	0	T	55649131	C	T	55649131	3	4	408	1	0	0	0	0	1	0	0	0	4600	652	23	1	2247	1	DLGAP5	14	55649131	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2301046	55649131	51700409	2777	80595											
FBXO34	55030	broad.mit.edu	37	chr14	55817580	55817580	+	Frame_Shift_Del	DEL	A	A	-																															ggaaaaaatcaggggatcttAaaaaagccaaggtacaggtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:55817580delA	ENST00000313833.4	+	2	717	c.472delA	c.(472-474)aafs	p.K159fs	FBXO34_ENST00000440021.1_Frame_Shift_Del_p.K159fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	159										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGGGGATCTTAAAAAAGCCAA	0.438													27	50	---	---	---	---					-	55817580	A	-	55817580	7	5	408	1	0	1	0	1	0	0	0	0	5789	363	13	0	474	0	FBXO34	14	55817580	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	168449	55817580	51531960	2778	80596											
FBXO34	55030	broad.mit.edu	37	chr14	55817973	55817973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtagccaagttggagtctGagtgcctgaagcggcagggc	8	8	17	8	1	1	2	0	2	1	0	1	3	1	3	2	4	3	3	2	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:55817973G>A	ENST00000313833.4	+	2	1110	c.865G>A	c.(865-867)Gag>Aag	p.E289K	FBXO34_ENST00000440021.1_Missense_Mutation_p.E289K	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	289										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GTTGGAGTCTGAGTGCCTGAA	0.532													47	193					0	0	0	0	A	55817973	G	A	55817973	3	1	408	1	0	0	0	0	1	0	0	0	5789	1291	45	2	867	2	FBXO34	14	55817973	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	393	55817973	51531567	2779	80597											
FBXO34	55030	broad.mit.edu	37	chr14	55818975	55818975	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagattctcgctgggttCgagatccacgctatagagag	10	9	12	10	3	1	3	0	0	1	3	4	5	2	3	1	1	1	4	1	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:55818975C>T	ENST00000313833.4	+	2	2112	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*	FBXO34_ENST00000440021.1_Nonsense_Mutation_p.R623*	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	623	F-box.									breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGCTGGGTTCGAGATCCACG	0.473													35	60					0	0	0	0	T	55818975	C	T	55818975	4	4	408	1	0	0	0	0	0	1	0	0	5789	876	31	1	1869	1	FBXO34	14	55818975	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1002	55818975	51530565	2780	80598											
SLC35F4	341880	broad.mit.edu	37	chr14	58055944	58055944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacctacctgaatttttTcattggagattgcttttctt	9	19	6	7	0	2	3	1	2	1	1	2	4	2	3	2	1	3	1	2	1	3	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:58055944T>C	ENST00000556826.1	-	3	813	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	SLC35F4_ENST00000554729.1_Missense_Mutation_p.K70E|SLC35F4_ENST00000339762.6_Missense_Mutation_p.K229E	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGAATTTTTTCATTGGAGAT	0.328													16	83					0	0	0	0	C	58055944	T	C	58055944	3	2	408	1	0	0	0	0	1	0	0	0	14679	1792	62	5	904	5	SLC35F4	14	58055944	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2236969	58055944	49293596	2781	80599											
ARID4A	5926	broad.mit.edu	37	chr14	58831368	58831368	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatgtgtgaaagaaaagaAgttgaaacggaaaatactag	20	7	10	4	1	0	4	0	2	0	2	0	5	0	5	1	1	2	1	1	1	10	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:58831368A>C	ENST00000355431.3	+	20	2934	c.2561A>C	c.(2560-2562)aAg>aCg	p.K854T	ARID4A_ENST00000395168.3_Missense_Mutation_p.K854T|ARID4A_ENST00000348476.3_Missense_Mutation_p.K854T|ARID4A_ENST00000431317.2_Missense_Mutation_p.K854T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	854					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGAAAAGAAGTTGAAACGG	0.333													14	38					0	0	0	0	C	58831368	A	C	58831368	3	2	408	1	0	0	0	0	1	0	0	0	921	72	3	5	2635	5	ARID4A	14	58831368	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	775424	58831368	48518172	2782	80600											
TOMM20L	387990	broad.mit.edu	37	chr14	58869469	58869469	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacggatgggagaactttgGttatctagaggtaagaatgt	12	12	14	3	1	1	3	0	0	1	3	1	5	1	4	0	4	2	3	0	4	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:58869469G>A	ENST00000360945.2	+	3	294	c.252G>A	c.(250-252)tgG>tgA	p.W84*	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	84					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GAGAACTTTGGTTATCTAGAG	0.308													8	152					0	0	0	0	A	58869469	G	A	58869469	4	1	408	1	0	0	0	0	0	1	0	0	16449	1270	44	4	262	4	TOMM20L	14	58869469	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	38101	58869469	48480071	2783	80601											
DAAM1	23002	broad.mit.edu	37	chr14	59797293	59797293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcaagagaaggaagagAtgatgcagaccttaaataaa	20	6	10	5	0	1	5	1	1	0	4	1	8	1	6	1	1	1	1	1	1	7	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:59797293A>G	ENST00000395125.1	+	12	1470	c.1447A>G	c.(1447-1449)Atg>Gtg	p.M483V	DAAM1_ENST00000351081.1_Missense_Mutation_p.M483V|DAAM1_ENST00000360909.3_Missense_Mutation_p.M483V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	483					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAGGAAGAGATGATGCAGAC	0.423													7	73					0	0	0	0	G	59797293	A	G	59797293	3	3	408	1	0	0	0	0	1	0	0	0	4248	333	12	5	1493	5	DAAM1	14	59797293	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	927824	59797293	47552247	2784	80602											
RTN1	6252	broad.mit.edu	37	chr14	60193834	60193834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagttgaggggtagtcgAggaaggaacccggctcggcc	8	6	17	10	3	1	1	1	1	0	0	3	4	1	3	2	6	1	4	2	6	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:60193834A>G	ENST00000267484.5	-	3	1903	c.1568T>C	c.(1567-1569)cTc>cCc	p.L523P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	523					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGTAGTCGAGGAAGGAACC	0.701													7	11					0	0	0	0	G	60193834	A	G	60193834	3	3	408	1	0	0	0	0	1	0	0	0	13810	304	11	5	855	5	RTN1	14	60193834	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	396541	60193834	47155706	2785	80603											
SIX6	4990	broad.mit.edu	37	chr14	60976367	60976367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttcaccaaggagtcgcAcgccaagctgcaggcgctgt	10	6	12	13	3	1	0	1	0	0	0	2	1	1	1	2	2	2	5	2	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:60976367A>G	ENST00000327720.5	+	1	699	c.251A>G	c.(250-252)cAc>cGc	p.H84R		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	84					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AAGGAGTCGCACGCCAAGCTG	0.582													5	55					0	0	0	0	G	60976367	A	G	60976367	3	3	408	1	0	0	0	0	1	0	0	0	14439	159	6	5	253	5	SIX6	14	60976367	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	782533	60976367	46373173	2786	80604											
SYNE2	23224	broad.mit.edu	37	chr14	64596825	64596825	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacacagaactcagcagcccTttcgtcactgagagccagca	12	7	8	14	1	2	2	2	1	0	2	3	3	2	2	2	0	6	2	2	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:64596825T>C	ENST00000357395.3	+	77	14498	c.3354T>C	c.(3352-3354)ccT>ccC	p.P1118P	SYNE2_ENST00000554584.1_Silent_p.P4650P|SYNE2_ENST00000344113.4_Silent_p.P4733P|SYNE2_ENST00000358025.3_Silent_p.P4733P|SYNE2_ENST00000394768.2_Silent_p.P1118P|SYNE2_ENST00000555002.1_Silent_p.P1367P|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4733					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGCAGCCCTTTCGTCACTG	0.473													18	64					0	0	0	0	C	64596825	T	C	64596825	2	2	408	1	0	0	0	0	0	0	0	1	15537	1596	56	5		5	SYNE2	14	64596825	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3620458	64596825	42752715	2787	80605											
MTHFD1	4522	broad.mit.edu	37	chr14	64892912	64892912	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacgtggtggtgactgggTatgctttttattcatgttgc	7	17	12	5	1	1	1	1	1	0	0	1	1	1	1	0	3	3	3	0	3	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:64892912T>C	ENST00000555709.1	+	11	1514		c.e11+2		MTHFD1_ENST00000545908.1_Splice_Site|MTHFD1_ENST00000555252.1_Splice_Site|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Splice_Site	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGTGACTGGGTATGCTTTTTA	0.438													13	100					0	0	0	0	C	64892912	T	C	64892912	5	2	408	1	0	0	0	0	0	0	1	0	9997	1652	57	5	1171	5	MTHFD1	14	64892912	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	296087	64892912	42456628	2788	80606											
MTHFD1	4522	broad.mit.edu	37	chr14	64906957	64906957	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggtggcatccagtaagaaAggagagcccgtcagtgccga	11	6	15	9	2	1	2	1	0	0	2	2	4	2	2	3	3	2	2	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:64906957A>G	ENST00000555709.1	+	18	2175	c.1788A>G	c.(1786-1788)aaA>aaG	p.K596K	MTHFD1_ENST00000545908.1_Silent_p.K652K|MTHFD1_ENST00000555252.1_Silent_p.K576K|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Silent_p.K652K	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	596	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCAGTAAGAAAGGAGAGCCCG	0.512													17	47					0	0	0	0	G	64906957	A	G	64906957	2	3	408	1	0	0	0	0	0	0	0	1	9997	69	3	5		5	MTHFD1	14	64906957	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	14045	64906957	42442583	2789	80607											
MTHFD1	4522	broad.mit.edu	37	chr14	64916254	64916254	+	Frame_Shift_Del	DEL	G	G	-																															agtgcactcactgggcagaaGggggcaagggtgccttagcc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:64916254delG	ENST00000555709.1	+	24	2758	c.2371delG	c.(2371-2373)ggfs	p.G792fs	MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_3'UTR|MTHFD1_ENST00000216605.7_Frame_Shift_Del_p.G848fs|MTHFD1_ENST00000545908.1_Frame_Shift_Del_p.G848fs|ZBTB25_ENST00000555220.1_3'UTR	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	792	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTGGGCAGAAGGGGGCAAGGG	0.567													33	110	---	---	---	---					-	64916254	G	-	64916254	7	5	408	1	0	1	0	1	0	0	0	0	9997	1000	35	0	2465	0	MTHFD1	14	64916254	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	9297	64916254	42433286	2790	80608											
HSPA2	3306	broad.mit.edu	37	chr14	65007834	65007834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgcagtcggatatgaaAcactggccgttccgggtggt	9	9	14	9	3	0	1	0	1	0	0	2	2	1	2	2	4	2	2	2	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:65007834A>G	ENST00000247207.6	+	1	649	c.267A>G	c.(265-267)aaA>aaG	p.K89K	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000394709.1_Silent_p.K89K	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	89					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGATATGAAACACTGGCCGT	0.557													18	55					0	0	0	0	G	65007834	A	G	65007834	2	3	408	1	0	0	0	0	0	0	0	1	7463	40	2	5		5	HSPA2	14	65007834	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	91580	65007834	42341706	2791	80609											
PLEK2	26499	broad.mit.edu	37	chr14	67857432	67857432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccttccttagaacaaagCgacgcaccttccagtttttc	10	12	6	13	2	0	1	0	0	0	1	4	3	3	1	4	0	2	2	4	0	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:67857432C>T	ENST00000216446.4	-	7	943	c.803G>A	c.(802-804)cGc>cAc	p.R268H		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	268	PH 2.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TAGAACAAAGCGACGCACCTT	0.498													25	136					0	0	0	0	T	67857432	C	T	67857432	3	4	408	1	0	0	0	0	1	0	0	0	12126	768	27	1	270	1	PLEK2	14	67857432	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2849598	67857432	39492108	2792	80610											
ZFYVE26	23503	broad.mit.edu	37	chr14	68219108	68219108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagttgaggaggatggTgtccccgtcacttttggctg	6	11	15	9	1	1	1	1	1	0	0	2	3	2	3	2	5	0	3	2	5	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:68219108T>C	ENST00000347230.4	-	40	7462	c.7324A>G	c.(7324-7326)Acc>Gcc	p.T2442A	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T288A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2442					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGAGGATGGTGTCCCCGTCA	0.537													4	21					0	0	0	0	C	68219108	T	C	68219108	3	2	408	1	0	0	0	0	1	0	0	0	17763	1696	59	5	307	5	ZFYVE26	14	68219108	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	361676	68219108	39130432	2793	80611											
DCAF5	8816	broad.mit.edu	37	chr14	69520911	69520911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagcgtccattgttgtggTtggcacagatggtttcgagg	7	13	15	6	2	0	1	0	0	0	1	2	2	1	1	1	4	1	5	1	4	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:69520911T>C	ENST00000341516.5	-	9	2639	c.2492A>G	c.(2491-2493)aAc>aGc	p.N831S	DCAF5_ENST00000556847.1_Missense_Mutation_p.N749S|DCAF5_ENST00000554215.1_Missense_Mutation_p.N749S|DCAF5_ENST00000557386.1_Missense_Mutation_p.N830S	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	831						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATTGTTGTGGTTGGCACAGAT	0.592													14	57					0	0	0	0	C	69520911	T	C	69520911	3	2	408	1	0	0	0	0	1	0	0	0	4306	1725	60	5	340	5	DCAF5	14	69520911	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1301803	69520911	37828629	2794	80612											
SLC39A9	55334	broad.mit.edu	37	chr14	69866167	69866167	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaatcattcccttggcTgttaatttctcagaggtaag	9	13	10	9	1	2	1	2	0	1	1	4	2	3	2	2	3	0	3	2	3	3	5	rs111934367		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:69866167T>A	ENST00000031146.4	+	1	759	c.81T>A	c.(79-81)gcT>gcA	p.A27A	SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000556605.1_Silent_p.A27A|SLC39A9_ENST00000557046.1_Silent_p.A27A|SLC39A9_ENST00000336643.5_Silent_p.A27A			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	27					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTCCCTTGGCTGTTAATTTCT	0.448													11	24					0	0	0	0	A	69866167	T	A	69866167	2	1	408	1	0	0	0	0	0	0	0	1	14713	1567	55	5		5	SLC39A9	14	69866167	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	345256	69866167	37483373	2795	80613											
SLC8A3	6547	broad.mit.edu	37	chr14	70634742	70634742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataagggtcaggttggagAcagtttcattccagacccga	11	9	11	10	1	2	2	2	0	0	2	3	4	3	2	3	3	0	2	3	3	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:70634742A>G	ENST00000381269.2	-	2	1151	c.398T>C	c.(397-399)gTc>gCc	p.V133A	SLC8A3_ENST00000357887.3_Missense_Mutation_p.V133A|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V133A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V133A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V133A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	133					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAGGTTGGAGACAGTTTCATT	0.483													18	53					0	0	0	0	G	70634742	A	G	70634742	3	3	408	1	0	0	0	0	1	0	0	0	14796	275	10	5	2524	5	SLC8A3	14	70634742	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	768575	70634742	36714798	2796	80614											
ADAM21	8747	broad.mit.edu	37	chr14	70925553	70925553	+	Frame_Shift_Del	DEL	G	G	-																															tctaaggcctggggctgcctGtgcttttgggctttgttgca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:70925553delG	ENST00000603540.1	+	2	1595	c.1337delG	c.(1336-1338)ttfs	p.C446fs	ADAM21_ENST00000267499.3_Frame_Shift_Del_p.C446fs|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	446	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGGCTGCCTGTGCTTTTGGG	0.498													27	86	---	---	---	---					-	70925553	G	-	70925553	7	5	408	1	0	1	0	1	0	0	0	0	243	1377	48	0	1339	0	ADAM21	14	70925553	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	290811	70925553	36423987	2797	80615											
ADAM20	8748	broad.mit.edu	37	chr14	70991509	70991509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggagccatctgtctagaGcagaagagaacaaggtgtga	14	8	13	6	0	2	4	0	1	2	3	2	6	2	5	1	2	3	1	1	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:70991509G>T	ENST00000256389.3	-	2	360	c.116C>A	c.(115-117)gCt>gAt	p.A39D	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCTGTCTAGAGCAGAAGAGAA	0.542													8	186					1.06961e-07	1.09985e-07	1	0	T	70991509	G	T	70991509	3	4	408	1	0	0	0	0	1	0	0	0	242	971	34	4	2218	4	ADAM20	14	70991509	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	65956	70991509	36358031	2798	80616											
PCNX	22990	broad.mit.edu	37	chr14	71492878	71492878	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagaccagtttatttctgCatatgttgcggtcttatttg	8	18	9	6	1	2	1	0	0	2	1	2	1	2	1	1	1	2	4	1	1	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:71492878C>T	ENST00000304743.2	+	14	3674	c.3228C>T	c.(3226-3228)tgC>tgT	p.C1076C	PCNX_ENST00000238570.5_Silent_p.C1076C|PCNX_ENST00000439984.3_Silent_p.C965C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1076						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATTTCTGCATATGTTGCG	0.348													5	105					0	0	0	0	T	71492878	C	T	71492878	2	4	408	1	0	0	0	0	0	0	0	1	11662	718	25	4		4	PCNX	14	71492878	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	501369	71492878	35856662	2799	80617											
SIPA1L1	26037	broad.mit.edu	37	chr14	72139141	72139141	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagcttggcttccatgtcaActatgagggcattgtggcgg	8	11	13	9	1	1	1	1	1	0	0	2	1	2	1	1	4	2	3	1	4	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:72139141A>G	ENST00000555818.1	+	9	3254	c.2906A>G	c.(2905-2907)aAc>aGc	p.N969S	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.N444S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N969S|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N969S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	969	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCCATGTCAACTATGAGGGC	0.527													30	73					0	0	0	0	G	72139141	A	G	72139141	3	3	408	1	0	0	0	0	1	0	0	0	14417	43	2	5	2936	5	SIPA1L1	14	72139141	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	646263	72139141	35210399	2800	80618											
DCAF4	26094	broad.mit.edu	37	chr14	73412598	73412598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcccttctccaggcagatAccaacagtgaccggctcttc	8	10	7	16	1	2	2	0	1	2	1	5	2	3	2	4	2	2	2	4	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:73412598A>G	ENST00000553457.1	+	6	531	c.241A>G	c.(241-243)Acc>Gcc	p.T81A	DCAF4_ENST00000509153.1_Missense_Mutation_p.T120A|DCAF4_ENST00000358377.2_Missense_Mutation_p.T181A|DCAF4_ENST00000394234.2_Missense_Mutation_p.T81A|DCAF4_ENST00000353777.3_Missense_Mutation_p.T120A|DCAF4_ENST00000555042.1_Missense_Mutation_p.T181A			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	181						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCAGGCAGATACCAACAGTGA	0.577													109	413					0	0	0	0	G	73412598	A	G	73412598	3	3	408	1	0	0	0	0	1	0	0	0	4303	391	14	5	563	5	DCAF4	14	73412598	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1273457	73412598	33936942	2801	80619											
PAPLN	89932	broad.mit.edu	37	chr14	73731295	73731295	+	Splice_Site	DEL	G	G	-																															tttctcctggcctcatgacaGggggtgacatggccgtgctg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:73731295delG	ENST00000427855.1	+	22	3088		c.e22-1		PAPLN_ENST00000381166.3_Splice_Site|PAPLN_ENST00000554301.1_Splice_Site|PAPLN_ENST00000340738.5_Splice_Site|PAPLN_ENST00000555445.1_Splice_Site			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein							proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCTCATGACAGGGGGTGACAT	0.627													74	181	---	---	---	---					-	73731295	G	-	73731295	8	5	408	1	0	1	0	1	0	0	1	0	11499	1014	35	0	2983	0	PAPLN	14	73731295	Splice_Site	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	318697	73731295	33618245	2802	80620											
NUMB	8650	broad.mit.edu	37	chr14	73759555	73759558	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															tggggcacagaaagaaacttTctctatcgtctggtcaacta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:73759555_73759558delTCTC	ENST00000554546.1	-	7	657_660	c.301_304delGAGA	c.(301-306)aafs	p.EK101fs	NUMB_ENST00000560335.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000557597.1_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000356296.4_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000555738.2_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000555394.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000355058.3_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000556772.1_5'UTR|NUMB_ENST00000555238.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000454166.4_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000559312.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000554521.2_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000544991.3_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000359560.3_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000535282.1_Frame_Shift_Del_p.EK101fs	NM_001005745.1	NP_001005745.1	P49757	NUMB_HUMAN	numb homolog (Drosophila)	112	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		AAAGAAACTTTCTCTATCGTCTGG	0.441													29	76	---	---	---	---					-	73759558	TCTC	-	73759555	7	5	408	1	0	1	0	1	0	0	0	0	10822	1792	62	0	1642	0	NUMB	14	73759555	Frame_Shift_Del	DEL	TCTC	TCGA-F7-A624-01A-22D-A30E-08	28260	73759555	33589985	2803	80621											
LTBP2	4053	broad.mit.edu	37	chr14	74999222	74999222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacactccgcgtccttgcAcaggcccagggtcaagcact	9	6	9	17	2	1	0	1	0	0	0	3	0	3	0	3	2	2	2	3	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:74999222A>G	ENST00000261978.4	-	10	2280	c.1894T>C	c.(1894-1896)Tgc>Cgc	p.C632R	LTBP2_ENST00000556690.1_Missense_Mutation_p.C632R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	632	EGF-like 3; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGTCCTTGCACAGGCCCAGG	0.622													12	38					0	0	0	0	G	74999222	A	G	74999222	3	3	408	1	0	0	0	0	1	0	0	0	9138	159	6	5	3679	5	LTBP2	14	74999222	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1239667	74999222	32350318	2804	80622											
LTBP2	4053	broad.mit.edu	37	chr14	75018993	75018993	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctccctgtccggctgCgggataggcaggtggcagaa	7	6	18	10	2	0	1	0	0	0	1	2	3	2	3	2	7	1	4	2	7	2	1	rs143214774	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75018993C>G	ENST00000261978.4	-	6	1682	c.1296G>C	c.(1294-1296)ccG>ccC	p.P432P	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Silent_p.P432P|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	432					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGTCCGGCTGCGGGATAGGCA	0.672													28	66					0	0	0	0	G	75018993	C	G	75018993	2	3	408	1	0	0	0	0	0	0	0	1	9138	755	27	3		3	LTBP2	14	75018993	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	19771	75018993	32330547	2805	80623											
LTBP2	4053	broad.mit.edu	37	chr14	75078569	75078569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccgcgcccacgaagagagCcagggtgagcggcaggaagc	11	1	16	13	4	0	2	0	1	0	1	0	5	0	3	3	3	3	1	3	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75078569C>A	ENST00000261978.4	-	1	465	c.79G>T	c.(79-81)Gct>Tct	p.A27S	LTBP2_ENST00000556690.1_Missense_Mutation_p.A27S|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	27					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACGAAGAGAGCCAGGGTGAGC	0.721													7	23					8.12818e-05	8.26188e-05	1	0	A	75078569	C	A	75078569	3	1	408	1	0	0	0	0	1	0	0	0	9138	739	26	4	5530	4	LTBP2	14	75078569	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	59576	75078569	32270971	2806	80624											
YLPM1	56252	broad.mit.edu	37	chr14	75265091	75265091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagcagaatggaagacAcacgggataaaggtctagta	17	5	13	6	1	1	2	0	0	1	2	1	4	1	4	0	4	1	3	0	4	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75265091A>G	ENST00000325680.7	+	5	3215	c.3091A>G	c.(3091-3093)Aca>Gca	p.T1031A	YLPM1_ENST00000238571.3_Missense_Mutation_p.T836A|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	836	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AATGGAAGACACACGGGATAA	0.488													45	131					0	0	0	0	G	75265091	A	G	75265091	3	3	408	1	0	0	0	0	1	0	0	0	17582	159	6	5	3109	5	YLPM1	14	75265091	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	186522	75265091	32084449	2807	80625											
EIF2B2	8892	broad.mit.edu	37	chr14	75475775	75475775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtgcattgccctgtgtttGactacgttcccccagagctc	5	12	10	14	2	0	2	0	1	0	1	2	2	1	2	3	0	4	4	3	0	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75475775G>A	ENST00000266126.5	+	8	1020	c.940G>A	c.(940-942)Gac>Aac	p.D314N		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	314					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CCCTGTGTTTGACTACGTTCC	0.483													88	229					0	0	0	0	A	75475775	G	A	75475775	3	1	408	1	0	0	0	0	1	0	0	0	5037	1290	45	2	970	2	EIF2B2	14	75475775	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	210684	75475775	31873765	2808	80626											
EIF2B2	8892	broad.mit.edu	37	chr14	75475827	75475827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctccaacattggtgggaAtgcaccttcctacatctacc	10	12	6	13	0	2	0	0	0	2	0	4	1	3	1	4	2	4	1	4	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75475827A>G	ENST00000266126.5	+	8	1072	c.992A>G	c.(991-993)aAt>aGt	p.N331S		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	331					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		ATTGGTGGGAATGCACCTTCC	0.493													68	224					0	0	0	0	G	75475827	A	G	75475827	3	3	408	1	0	0	0	0	1	0	0	0	5037	101	4	5	1022	5	EIF2B2	14	75475827	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	52	75475827	31873713	2809	80627											
MLH3	27030	broad.mit.edu	37	chr14	75515253	75515253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaaataaactaaaaccaTtatcttcactaaattcctta	18	13	0	10	0	3	0	2	0	1	0	4	0	4	0	2	0	2	0	2	0	9	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75515253T>C	ENST00000355774.2	-	2	1321	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.N369S|MLH3_ENST00000556740.1_Missense_Mutation_p.N369S|MLH3_ENST00000556257.1_Missense_Mutation_p.N369S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	369					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTAAAACCATTATCTTCACT	0.333								Mismatch excision repair (MMR)					12	46					0	0	0	0	C	75515253	T	C	75515253	3	2	408	1	0	0	0	0	1	0	0	0	9687	1493	52	5	3303	5	MLH3	14	75515253	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	39426	75515253	31834287	2810	80628											
FLVCR2	55640	broad.mit.edu	37	chr14	76091084	76091084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaactttgtgctgcttgTcatcacctatggtaaggtgt	7	16	9	9	0	3	0	3	0	1	0	4	0	3	0	1	2	3	3	1	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:76091084T>C	ENST00000238667.4	+	3	1297	c.941T>C	c.(940-942)gTc>gCc	p.V314A	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.V109A|FLVCR2_ENST00000553587.1_Missense_Mutation_p.V62A|FLVCR2_ENST00000556856.1_Missense_Mutation_p.V62A	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	314					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGCTGCTTGTCATCACCTAT	0.453													9	108					0	0	0	0	C	76091084	T	C	76091084	3	2	408	1	0	0	0	0	1	0	0	0	5991	1667	58	5	951	5	FLVCR2	14	76091084	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	575831	76091084	31258456	2811	80629											
C14orf166B	145497	broad.mit.edu	37	chr14	77294742	77294742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcccgggagaattcggAaacagacctggagattgaag	14	5	13	9	2	0	4	0	1	0	3	1	7	0	5	3	3	2	0	3	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:77294742A>G	ENST00000393774.3	+	2	321	c.197A>G	c.(196-198)gAa>gGa	p.E66G	C14orf166B_ENST00000450042.2_Missense_Mutation_p.E49G|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.E23G	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	66										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAGAATTCGGAAACAGACCTG	0.522													36	104					0	0	0	0	G	77294742	A	G	77294742	3	3	408	1	0	0	0	0	1	0	0	0	1769	246	9	5	203	5	C14orf166B	14	77294742	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1203658	77294742	30054798	2812	80630											
TMED8	283578	broad.mit.edu	37	chr14	77809655	77809655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgtcatagtcatcggtcGcaaactcccagcagacacgc	12	7	8	14	3	2	1	2	0	0	1	5	1	3	1	1	1	2	2	1	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:77809655G>A	ENST00000216468.7	-	5	681	c.626C>T	c.(625-627)gCg>gTg	p.A209V		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	209	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTCATCGGTCGCAAACTCCCA	0.522													22	55					0	0	0	0	A	77809655	G	A	77809655	3	1	408	1	0	0	0	0	1	0	0	0	16105	1087	38	1	358	1	TMED8	14	77809655	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	514913	77809655	29539885	2813	80631											
ISM2	145501	broad.mit.edu	37	chr14	77944601	77944601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgatcatgcatgtcCgtagcattgcgggccaggag	8	10	12	11	2	2	1	2	1	0	0	3	2	3	2	3	2	3	3	3	2	1	3	rs140615876	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:77944601C>A	ENST00000493585.1	-	5	858	c.836G>T	c.(835-837)cGg>cTg	p.R279L	ISM2_ENST00000429906.1_Silent_p.T313T|ISM2_ENST00000412904.1_Silent_p.T313T|ISM2_ENST00000393684.3_Silent_p.T306T|ISM2_ENST00000342219.4_Silent_p.T394T	NM_182509.3	NP_872315.2	Q6H9L7	ISM2_HUMAN	isthmin 2	0						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CATGCATGTCCGTAGCATTGC	0.607													5	302					0.0215528	0.0216729	1	0	A	77944601	C	A	77944601	3	1	408	1	0	0	0	0	1	0	0	0	7914	652	23	3	541	3	ISM2	14	77944601	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	134946	77944601	29404939	2814	80632											
NRXN3	9369	broad.mit.edu	37	chr14	80163993	80163993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcagttaaccatcttcAacactcaggcgcaaatagcc	12	7	8	14	2	3	0	2	0	1	0	3	0	3	0	3	2	3	3	3	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:80163993A>G	ENST00000281127.7	+	4	1501	c.622A>G	c.(622-624)Aac>Gac	p.N208D	NRXN3_ENST00000554719.1_Missense_Mutation_p.N840D|NRXN3_ENST00000557594.1_Missense_Mutation_p.N208D|NRXN3_ENST00000335750.5_Missense_Mutation_p.N840D|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.N238D	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	208	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACCATCTTCAACACTCAGGC	0.468													8	81					0	0	0	0	G	80163993	A	G	80163993	3	3	408	1	0	0	0	0	1	0	0	0	10738	130	5	5	2913	5	NRXN3	14	80163993	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2219392	80163993	27185547	2815	80633											
SPATA7	55812	broad.mit.edu	37	chr14	88904243	88904243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctgcacatcggaggaaaActcggtaaagcaaaatgatg	16	6	12	7	2	0	1	0	1	0	0	2	3	0	3	0	4	3	4	0	4	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:88904243A>G	ENST00000556553.1	+	12	1740	c.1181A>G	c.(1180-1182)aAc>aGc	p.N394S	SPATA7_ENST00000045347.7_Missense_Mutation_p.N426S|SPATA7_ENST00000393545.4_Missense_Mutation_p.N426S|SPATA7_ENST00000356583.5_Missense_Mutation_p.N394S			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	426					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TCGGAGGAAAACTCGGTAAAG	0.348													6	94					0	0	0	0	G	88904243	A	G	88904243	3	3	408	1	0	0	0	0	1	0	0	0	15104	43	2	5	1323	5	SPATA7	14	88904243	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	8740250	88904243	18445297	2816	80634											
ZC3H14	79882	broad.mit.edu	37	chr14	89037460	89037460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attagataaacttcgctctgTtacaactggtaagattcata	14	14	6	7	1	2	2	1	0	1	2	3	2	2	2	0	1	3	3	0	1	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89037460T>C	ENST00000251038.5	+	4	452	c.227T>C	c.(226-228)gTt>gCt	p.V76A	ZC3H14_ENST00000336693.4_Missense_Mutation_p.V42A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V76A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V76A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V76A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V76A|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V42A	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	76						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTTCGCTCTGTTACAACTGGT	0.313													14	32					0	0	0	0	C	89037460	T	C	89037460	3	2	408	1	0	0	0	0	1	0	0	0	17661	1725	60	5	241	5	ZC3H14	14	89037460	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	133217	89037460	18312080	2817	80635											
EML5	161436	broad.mit.edu	37	chr14	89087643	89087643	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcccaacaaggatcttGccctgaaacacaagcaggac	13	7	8	13	0	1	1	0	1	1	0	2	3	2	3	2	2	4	1	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89087643G>A	ENST00000554922.1	-	38	5264	c.5016C>T	c.(5014-5016)ggC>ggT	p.G1672G	EML5_ENST00000380664.5_Silent_p.G1664G|EML5_ENST00000352093.5_Silent_p.G1626G|EML5_ENST00000553320.1_5'UTR	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1664						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAAGGATCTTGCCCTGAAACA	0.388													49	140					0	0	0	0	A	89087643	G	A	89087643	2	1	408	1	0	0	0	0	0	0	0	1	5138	1306	46	4		4	EML5	14	89087643	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	50183	89087643	18261897	2818	80636											
EML5	161436	broad.mit.edu	37	chr14	89202827	89202827	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtttatttctttcttgCaccacaatttcaaaaatttc	13	17	3	8	0	3	0	1	0	2	0	4	0	3	0	1	1	1	2	1	1	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89202827C>T	ENST00000554922.1	-	7	1178	c.930G>A	c.(928-930)gtG>gtA	p.V310V	EML5_ENST00000380664.5_Silent_p.V310V|EML5_ENST00000352093.5_Silent_p.V310V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	310						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTCTTTCTTGCACCACAATTT	0.403													50	154					0	0	0	0	T	89202827	C	T	89202827	2	4	408	1	0	0	0	0	0	0	0	1	5138	697	25	4		4	EML5	14	89202827	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	115184	89202827	18146713	2819	80637											
FOXN3	1112	broad.mit.edu	37	chr14	89647123	89647123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcggctcaggacccgcGctccattttggatcactcct	5	10	9	17	3	2	0	2	0	0	0	5	2	4	2	4	3	0	2	4	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89647123G>A	ENST00000345097.4	-	6	955	c.839C>T	c.(838-840)gCg>gTg	p.A280V	FOXN3_ENST00000555353.1_Missense_Mutation_p.A258V|FOXN3_ENST00000557258.1_Missense_Mutation_p.A258V|FOXN3_ENST00000261302.5_Missense_Mutation_p.A280V	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	280					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGGACCCGCGCTCCATTTTG	0.562													10	20					0	0	0	0	A	89647123	G	A	89647123	3	1	408	1	0	0	0	0	1	0	0	0	6068	1087	38	1	641	1	FOXN3	14	89647123	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	444296	89647123	17702417	2820	80638											
FOXN3	1112	broad.mit.edu	37	chr14	89878383	89878383	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcaaaatacggaaaatgTtccaagatccagttgtagat	15	12	8	6	1	0	2	0	0	0	2	2	3	2	3	2	1	2	4	2	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89878383T>C	ENST00000345097.4	-	2	554	c.438A>G	c.(436-438)gaA>gaG	p.E146E	FOXN3_ENST00000555353.1_Silent_p.E146E|FOXN3_ENST00000557258.1_Silent_p.E146E|FOXN3_ENST00000261302.5_Silent_p.E146E	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	146					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGGAAAATGTTCCAAGATCC	0.438													32	102					0	0	0	0	C	89878383	T	C	89878383	2	2	408	1	0	0	0	0	0	0	0	1	6068	1722	60	5		5	FOXN3	14	89878383	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	231260	89878383	17471157	2821	80639											
TRIP11	9321	broad.mit.edu	37	chr14	92441051	92441051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaagccacccagtcaTccacctggtaacaccgccct	9	7	5	20	1	1	0	1	0	0	0	4	0	4	0	8	1	2	1	8	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:92441051T>C	ENST00000267622.4	-	19	5867	c.5494A>G	c.(5494-5496)Atg>Gtg	p.M1832V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1832					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CACCCAGTCATCCACCTGGTA	0.368			T	PDGFRB	AML								12	22					0	0	0	0	C	92441051	T	C	92441051	3	2	408	1	0	0	0	0	1	0	0	0	16650	1435	50	5	457	5	TRIP11	14	92441051	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2562668	92441051	14908489	2822	80640											
CPSF2	53981	broad.mit.edu	37	chr14	92600662	92600662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcagcctttgataaaatAcagcagctaaaattctctca	15	11	6	9	0	2	1	1	1	1	0	3	2	2	1	1	0	5	3	1	0	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:92600662A>G	ENST00000298875.4	+	5	663	c.378A>G	c.(376-378)atA>atG	p.I126M		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	126					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TTGATAAAATACAGCAGCTAA	0.323													3	25					0	0	0	0	G	92600662	A	G	92600662	3	3	408	1	0	0	0	0	1	0	0	0	3855	381	14	5	388	5	CPSF2	14	92600662	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	159611	92600662	14748878	2823	80641											
GOLGA5	9950	broad.mit.edu	37	chr14	93282745	93282745	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatgggccagatacaTcagctcagatccgaattaca	14	8	9	10	1	2	3	2	1	0	2	3	4	3	3	2	1	4	2	2	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:93282745T>C	ENST00000163416.2	+	7	1726	c.1470T>C	c.(1468-1470)caT>caC	p.H490H	GOLGA5_ENST00000355976.2_Silent_p.H490H	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	490					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCCAGATACATCAGCTCAGAT	0.478			T	RET	papillary thyroid								4	142					0	0	0	0	C	93282745	T	C	93282745	2	2	408	1	0	0	0	0	0	0	0	1	6607	1432	50	5		5	GOLGA5	14	93282745	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	682083	93282745	14066795	2824	80642											
BTBD7	55727	broad.mit.edu	37	chr14	93712550	93712550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaggaggtgtactgtttAcgcgacatctcccaggctgt	7	11	12	11	2	1	0	0	0	1	0	2	2	1	1	1	3	3	4	1	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:93712550A>G	ENST00000334746.5	-	10	2511	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	BTBD7_ENST00000554565.1_Missense_Mutation_p.V384A|BTBD7_ENST00000393170.2_Missense_Mutation_p.V309A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	735										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTACTGTTTACGCGACATCT	0.473													53	202					0	0	0	0	G	93712550	A	G	93712550	3	3	408	1	0	0	0	0	1	0	0	0	1555	391	14	5	1202	5	BTBD7	14	93712550	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	429805	93712550	13636990	2825	80643											
PRIMA1	145270	broad.mit.edu	37	chr14	94245529	94245529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccattacttacctggggcGgagaggagtctgggaggtgg	8	8	18	7	1	1	1	0	0	1	1	1	4	1	3	2	7	3	0	2	7	2	2	rs145840548	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:94245529G>A	ENST00000393140.1	-	3	324	c.222C>T	c.(220-222)tcC>tcT	p.S74S	PRIMA1_ENST00000316227.3_Silent_p.S74S|PRIMA1_ENST00000393143.1_Silent_p.S74S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	74					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TACCTggggcggagaggagtc	0.652													7	20					0	0	0	0	A	94245529	G	A	94245529	2	1	408	1	0	0	0	0	0	0	0	1	12572	1103	39	1		1	PRIMA1	14	94245529	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	532979	94245529	13104011	2826	80644											
ASB2	51676	broad.mit.edu	37	chr14	94404137	94404137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccacgtagtccaggaGgacatcgatgatgggccccg	8	7	14	12	3	0	1	0	1	0	0	2	4	1	3	4	3	1	2	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:94404137G>T	ENST00000555019.1	-	9	2108	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	ASB2_ENST00000315988.4_Missense_Mutation_p.L512I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	512	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TAGTCCAGGAGGACATCGATG	0.582													7	67					8.12818e-05	8.26188e-05	1	0	T	94404137	G	T	94404137	3	4	408	1	0	0	0	0	1	0	0	0	1027	1000	35	4	237	4	ASB2	14	94404137	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	158608	94404137	12945403	2827	80645											
DICER1	23405	broad.mit.edu	37	chr14	95557552	95557552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaatacctattagtggccGcatcatgggatagtacacct	13	10	8	10	1	1	0	1	0	0	0	1	1	1	1	3	2	3	2	3	2	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95557552G>A	ENST00000526495.1	-	27	5806	c.5515C>T	c.(5515-5517)Cgg>Tgg	p.R1839W	DICER1_ENST00000527414.1_Missense_Mutation_p.R1839W|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.R1839W|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000556045.1_Missense_Mutation_p.R737W|DICER1_ENST00000343455.3_Missense_Mutation_p.R1839W			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1839					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATTAGTGGCCGCATCATGGGA	0.393			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				16	329					0	0	0	0	A	95557552	G	A	95557552	3	1	408	1	0	0	0	0	1	0	0	0	4558	1086	38	1	265	1	DICER1	14	95557552	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1153415	95557552	11791988	2828	80646											
DICER1	23405	broad.mit.edu	37	chr14	95590838	95590838	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtgctcttcacatagTgcatgtattttccttaggaa	11	14	9	7	0	2	1	1	0	1	1	3	3	3	2	1	1	2	3	1	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95590838T>C	ENST00000526495.1	-	10	1362	c.1071A>G	c.(1069-1071)gcA>gcG	p.A357A	DICER1_ENST00000527414.1_Silent_p.A357A|DICER1_ENST00000393063.1_Silent_p.A357A|DICER1_ENST00000541352.1_Silent_p.A357A|DICER1_ENST00000343455.3_Silent_p.A357A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	357	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCACATAGTGCATGTATTT	0.368			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				29	103					0	0	0	0	C	95590838	T	C	95590838	2	2	408	1	0	0	0	0	0	0	0	1	4558	1683	59	5		5	DICER1	14	95590838	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	33286	95590838	11758702	2829	80647											
DICER1	23405	broad.mit.edu	37	chr14	95590933	95590933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatttctgtagttctcttaCcatcattccagctactttat	8	19	4	10	0	3	0	1	0	2	0	5	0	4	0	2	0	3	4	2	0	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95590933C>A	ENST00000526495.1	-	10	1267	c.976G>T	c.(976-978)Gta>Tta	p.V326L	DICER1_ENST00000527414.1_Missense_Mutation_p.V326L|DICER1_ENST00000393063.1_Missense_Mutation_p.V326L|DICER1_ENST00000541352.1_Missense_Mutation_p.V326L|DICER1_ENST00000343455.3_Missense_Mutation_p.V326L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	326	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGTTCTCTTACCATCATTCCA	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				9	101					4.68919e-08	4.83164e-08	1	0	A	95590933	C	A	95590933	3	1	408	1	0	0	0	0	1	0	0	0	4558	507	18	4	4872	4	DICER1	14	95590933	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	95	95590933	11758607	2830	80648											
DICER1	23405	broad.mit.edu	37	chr14	95595892	95595892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcttttcttccaattcCtctggatcacatttcccatt	8	18	3	12	0	4	1	1	1	3	0	7	2	7	2	3	1	0	0	3	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95595892C>A	ENST00000526495.1	-	8	942	c.651G>T	c.(649-651)gaG>gaT	p.E217D	DICER1_ENST00000527414.1_Missense_Mutation_p.E217D|DICER1_ENST00000393063.1_Missense_Mutation_p.E217D|DICER1_ENST00000541352.1_Missense_Mutation_p.E217D|DICER1_ENST00000343455.3_Missense_Mutation_p.E217D			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	217	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCCAATTCCTCTGGATCAC	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				18	38					4.75885e-15	4.98425e-15	1	0	A	95595892	C	A	95595892	3	1	408	1	0	0	0	0	1	0	0	0	4558	680	24	4	5205	4	DICER1	14	95595892	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4959	95595892	11753648	2831	80649											
CLMN	79789	broad.mit.edu	37	chr14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-																															ccacatgtttccttttttccTtttttttactactgattgat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95662949delT	ENST00000298912.4	-	10	2707	c.2594delA	c.(2593-2595)agfs	p.K865fs		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865						integral to membrane	actin binding	p.K865fs*10(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408													24	44	---	---	---	---					-	95662949	T	-	95662949	7	5	408	1	0	1	0	1	0	0	0	0	3572	1609	56	0	430	0	CLMN	14	95662949	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	67057	95662949	11686591	2832	80650											
CLMN	79789	broad.mit.edu	37	chr14	95679679	95679679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgagtctgagtctgtgCcccctgagccaggggacaag	9	7	15	10	0	2	3	0	3	2	0	2	5	2	5	3	3	2	0	3	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95679679C>T	ENST00000298912.4	-	6	598	c.485G>A	c.(484-486)gGc>gAc	p.G162D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	162	Actin-binding.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGAGTCTGTGCCCCCTGAGCC	0.552													26	72					0	0	0	0	T	95679679	C	T	95679679	3	4	408	1	0	0	0	0	1	0	0	0	3572	739	26	4	2555	4	CLMN	14	95679679	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	16730	95679679	11669861	2833	80651											
BDKRB2	624	broad.mit.edu	37	chr14	96707261	96707261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggtgttccggaccatgaAggagtacagcgatgagggcc	9	7	16	9	2	0	2	0	2	0	0	1	5	1	4	3	4	2	3	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:96707261A>G	ENST00000542454.2	+	3	3603	c.515A>G	c.(514-516)aAg>aGg	p.K172R	BDKRB2_ENST00000554311.1_Missense_Mutation_p.K199R|BDKRB2_ENST00000539359.1_Missense_Mutation_p.K172R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.K199R			P30411	BKRB2_HUMAN	bradykinin receptor B2	199					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGGACCATGAAGGAGTACAGC	0.602													25	74					0	0	0	0	G	96707261	A	G	96707261	3	3	408	1	0	0	0	0	1	0	0	0	1397	72	3	5	602	5	BDKRB2	14	96707261	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1027582	96707261	10642279	2834	80652											
ATG2B	55102	broad.mit.edu	37	chr14	96752283	96752283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgctctcgtgttctcgagCcgcagtttcataaatggtct	6	15	9	11	3	5	0	1	0	4	0	7	1	5	0	1	1	2	4	1	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:96752283C>T	ENST00000359933.4	-	42	6939	c.6046G>A	c.(6046-6048)Gct>Act	p.A2016T		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2016										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGTTCTCGAGCCGCAGTTTCA	0.567													8	21					0	0	0	0	T	96752283	C	T	96752283	3	4	408	1	0	0	0	0	1	0	0	0	1098	739	26	4	194	4	ATG2B	14	96752283	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	45022	96752283	10597257	2835	80653											
BCL11B	64919	broad.mit.edu	37	chr14	99642353	99642353	+	Frame_Shift_Del	DEL	C	C	-																															catgagcggggactgcgccaCggcctccggcccgagcggcg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:99642353delC	ENST00000345514.2	-	3	873	c.607delG	c.(607-609)tgfs	p.V203fs	BCL11B_ENST00000443726.2_Frame_Shift_Del_p.V80fs|BCL11B_ENST00000357195.3_Frame_Shift_Del_p.V274fs	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	274						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GACTGCGCCACGGCCTCCGGC	0.716			T	TLX3	T-ALL								7	15	---	---	---	---					-	99642353	C	-	99642353	7	5	408	1	0	1	0	1	0	0	0	0	1368	536	19	0	1868	0	BCL11B	14	99642353	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	2890070	99642353	7707187	2836	80654											
CYP46A1	10858	broad.mit.edu	37	chr14	100182518	100182518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgctggacaacttcGtcaccttcttcattgctggt	6	14	10	11	1	4	0	2	0	2	0	5	1	4	1	1	3	3	2	1	3	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:100182518G>A	ENST00000554176.1	+	4	1096	c.430G>A	c.(430-432)Gtc>Atc	p.V144I	CYP46A1_ENST00000261835.3_Missense_Mutation_p.V297I|CYP46A1_ENST00000423126.2_Missense_Mutation_p.V200I			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	297					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGACAACTTCGTCACCTTCTT	0.542													21	69					0	0	0	0	A	100182518	G	A	100182518	3	1	408	1	0	0	0	0	1	0	0	0	4214	1145	40	1	923	1	CYP46A1	14	100182518	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	540165	100182518	7167022	2837	80655											
EML1	2009	broad.mit.edu	37	chr14	100363565	100363565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcatcgcatccgtggTggtgttatacaacgtggagg	8	12	12	9	3	1	0	1	0	0	0	3	1	2	1	1	4	3	2	1	4	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:100363565T>C	ENST00000262233.6	+	7	900	c.761T>C	c.(760-762)gTg>gCg	p.V254A	EML1_ENST00000327921.9_Missense_Mutation_p.V242A|EML1_ENST00000334192.4_Missense_Mutation_p.V273A	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	254						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCATCCGTGGTGGTGTTATAC	0.527													33	72					0	0	0	0	C	100363565	T	C	100363565	3	2	408	1	0	0	0	0	1	0	0	0	5134	1696	59	5	848	5	EML1	14	100363565	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	181047	100363565	6985975	2838	80656											
YY1	7528	broad.mit.edu	37	chr14	100706061	100706061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggccggcaagagcggCggcggcggctcgtcgtcgtc	3	4	20	14	10	0	1	0	0	0	1	4	1	0	1	1	7	1	2	1	7	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:100706061C>T	ENST00000262238.4	+	1	740	c.480C>T	c.(478-480)ggC>ggT	p.G160G		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	160	Gly/Ser-rich.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gcaagagcggcggcggcggct	0.716													7	18					0	0	0	0	T	100706061	C	T	100706061	2	4	408	1	0	0	0	0	0	0	0	1	17603	755	27	1		1	YY1	14	100706061	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	342496	100706061	6643479	2839	80657											
YY1	7528	broad.mit.edu	37	chr14	100743827	100743827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtgcgaatccataccGgagacaggccctatgtgtgc	10	8	11	12	2	0	1	0	0	0	1	1	3	1	1	3	2	3	0	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:100743827G>A	ENST00000262238.4	+	5	1395	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	379	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AATCCATACCGGAGACAGGCC	0.468													32	76					0	0	0	0	A	100743827	G	A	100743827	3	1	408	1	0	0	0	0	1	0	0	0	17603	1117	39	1	1153	1	YY1	14	100743827	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	37766	100743827	6605713	2840	80658											
DYNC1H1	1778	broad.mit.edu	37	chr14	102445732	102445732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccgggtccttacactcAgtgaagactcgccctacgaa	10	8	9	14	3	1	2	1	1	0	1	4	3	3	2	3	1	3	1	3	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:102445732A>G	ENST00000360184.4	+	3	585	c.421A>G	c.(421-423)Agt>Ggt	p.S141G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	141	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTTACACTCAGTGAAGACTC	0.423													7	141					0	0	0	0	G	102445732	A	G	102445732	3	3	408	1	0	0	0	0	1	0	0	0	4877	188	7	5	431	5	DYNC1H1	14	102445732	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1701905	102445732	4903808	2841	80659											
ZNF839	55778	broad.mit.edu	37	chr14	102808375	102808375	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaatgggagccatgagttActgtctcagggacagaagca	12	8	12	9	0	1	2	1	1	1	1	3	4	2	4	2	2	3	2	2	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:102808375A>G	ENST00000262236.5	+	8	2656	c.2301A>G	c.(2299-2301)ttA>ttG	p.L767L	ZNF839_ENST00000442396.2_Silent_p.L881L|ZNF839_ENST00000558850.1_Silent_p.L765L|ZNF839_ENST00000559185.1_Silent_p.L765L|ZNF839_ENST00000420933.2_3'UTR	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	765						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCATGAGTTACTGTCTCAGG	0.512													11	64					0	0	0	0	G	102808375	A	G	102808375	2	3	408	1	0	0	0	0	0	0	0	1	18281	388	14	5		5	ZNF839	14	102808375	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	362643	102808375	4541165	2842	80660											
TECPR2	9895	broad.mit.edu	37	chr14	102963965	102963965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggcccgctgtccaaaCggagacctcgcccggcggta	6	6	15	14	5	0	1	0	0	0	1	2	2	1	1	4	4	1	2	4	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:102963965C>T	ENST00000359520.7	+	19	4216	c.3990C>T	c.(3988-3990)aaC>aaT	p.N1330N		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1330							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTGTCCAAACGGAGACCTCG	0.667													6	22					0	0	0	0	T	102963965	C	T	102963965	2	4	408	1	0	0	0	0	0	0	0	1	15838	535	19	1		1	TECPR2	14	102963965	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	155590	102963965	4385575	2843	80661											
TRAF3	7187	broad.mit.edu	37	chr14	103372013	103372013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaatatcgcctctggCtgcccagtctttgtggccca	7	11	11	12	1	2	2	0	1	2	1	3	3	2	2	3	2	1	1	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:103372013C>T	ENST00000560371.1	+	11	1816	c.1599C>T	c.(1597-1599)ggC>ggT	p.G533G	TRAF3_ENST00000351691.5_Silent_p.G508G|TRAF3_ENST00000392745.2_Silent_p.G533G|TRAF3_ENST00000347662.4_Silent_p.G508G|TRAF3_ENST00000539721.1_Silent_p.G450G	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	533	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TCGCCTCTGGCTGCCCAGTCT	0.468													41	144					0	0	0	0	T	103372013	C	T	103372013	2	4	408	1	0	0	0	0	0	0	0	1	16534	784	28	4		4	TRAF3	14	103372013	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	408048	103372013	3977527	2844	80662											
MARK3	4140	broad.mit.edu	37	chr14	103923477	103923477	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttatttctctcacctatAggtgaagtatttgactattt	9	20	5	7	0	2	2	1	2	1	0	3	2	2	2	1	1	0	1	1	1	6	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:103923477A>G	ENST00000429436.2	+	6	922		c.e6-1		MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000553942.1_Splice_Site|MARK3_ENST00000440884.3_Splice_Site|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000335102.5_Splice_Site|MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000216288.7_Splice_Site	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3								ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TCTCACCTATAGGTGAAGTAT	0.303													21	42					0	0	0	0	G	103923477	A	G	103923477	5	3	408	1	0	0	0	0	0	0	1	0	9383	434	15	5	433	5	MARK3	14	103923477	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	551464	103923477	3426063	2845	80663											
BAG5	9529	broad.mit.edu	37	chr14	104027343	104027343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcagtatctacagagtcTatttcaaaaagctgttttgt	11	16	6	8	0	4	1	2	0	2	1	4	1	4	1	1	0	2	3	1	0	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:104027343T>C	ENST00000445922.2	-	2	405	c.159A>G	c.(157-159)atA>atG	p.I53M	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.I53M|BAG5_ENST00000337322.4_Missense_Mutation_p.I94M	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	53	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CTACAGAGTCTATTTCAAAAA	0.413													30	91					0	0	0	0	C	104027343	T	C	104027343	3	2	408	1	0	0	0	0	1	0	0	0	1294	1512	53	5	1188	5	BAG5	14	104027343	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	103866	104027343	3322197	2846	80664											
ASPG	374569	broad.mit.edu	37	chr14	104570983	104570983	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggagccggcgtcatcTcaggcttcgacatgacatcg	7	8	14	12	5	2	1	2	1	1	0	5	3	2	2	1	4	1	1	1	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:104570983T>A	ENST00000551177.1	+	9	1053	c.961T>A	c.(961-963)Tca>Aca	p.S321T	ASPG_ENST00000455920.2_Missense_Mutation_p.S321T|ASPG_ENST00000546892.2_Missense_Mutation_p.S321T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	321	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGCGTCATCTCAGGCTTCGA	0.682													5	27					0	0	0	0	A	104570983	T	A	104570983	3	1	408	1	0	0	0	0	1	0	0	0	1056	1551	54	5	995	5	ASPG	14	104570983	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	543640	104570983	2778557	2847	80665											
INF2	64423	broad.mit.edu	37	chr14	105185138	105185138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcttacaggcctcaGgcccaggcccaaggccaagt	8	8	9	16	0	3	0	1	0	2	0	5	0	3	0	4	4	1	0	4	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105185138G>A	ENST00000330634.7	+	22	3844	c.3701G>A	c.(3700-3702)aGg>aAg	p.R1234K	INF2_ENST00000481338.1_3'UTR|INF2_ENST00000392634.4_3'UTR	NM_001031714.3	NP_001026884.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1234					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		ACAGGCCTCAGGCCCAGGCCC	0.592													10	22					0	0	0	0	A	105185138	G	A	105185138	3	1	408	1	0	0	0	0	1	0	0	0	7787	1000	35	4	3847	4	INF2	14	105185138	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	614155	105185138	2164402	2848	80666											
SIVA1	10572	broad.mit.edu	37	chr14	105222045	105222045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggctgtgccgtcgttcAcctgccagagtccccaaagc	8	8	11	14	2	1	2	1	1	0	1	3	2	2	2	5	1	3	2	5	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105222045A>G	ENST00000329967.6	+	2	299	c.197A>G	c.(196-198)cAc>cGc	p.H66R	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	66					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GCCGTCGTTCACCTGCCAGAG	0.627													27	70					0	0	0	0	G	105222045	A	G	105222045	3	3	408	1	0	0	0	0	1	0	0	0	14433	159	6	5	203	5	SIVA1	14	105222045	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	36907	105222045	2127495	2849	80667											
AHNAK2	113146	broad.mit.edu	37	chr14	105408303	105408303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagggaatgctcatgtcGgcctccatctttggcgcaga	8	10	13	10	2	2	1	1	0	1	1	4	3	3	3	2	4	1	2	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105408303G>A	ENST00000333244.5	-	7	13604	c.13485C>T	c.(13483-13485)gcC>gcT	p.A4495A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4495						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCTCATGTCGGCCTCCATCT	0.587													61	218					0	0	0	0	A	105408303	G	A	105408303	2	1	408	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105408303	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	186258	105408303	1941237	2850	80668											
AHNAK2	113146	broad.mit.edu	37	chr14	105418137	105418137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggacctccaggtcagcGgaagggggctgaatgctgag	8	6	18	9	2	1	2	1	2	0	0	2	4	2	4	2	5	2	2	2	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105418137G>A	ENST00000333244.5	-	7	3770	c.3651C>T	c.(3649-3651)tcC>tcT	p.S1217S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1217						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGTCAGCGGAAGGGGGCT	0.647													108	76					0	0	0	0	A	105418137	G	A	105418137	2	1	408	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105418137	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9834	105418137	1931403	2851	80669											
CDCA4	55038	broad.mit.edu	37	chr14	105478187	105478187	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggctgtatgaggacActgtcttcaagccggccagg	8	8	14	11	1	2	1	1	1	1	0	2	2	2	2	2	4	2	4	2	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105478187A>T	ENST00000336219.3	-	2	235	c.80T>A	c.(79-81)gTg>gAg	p.V27E	CDCA4_ENST00000392590.3_Missense_Mutation_p.V27E	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	27						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GTATGAGGACACTGTCTTCAA	0.572													37	123					0	0	0	0	T	105478187	A	T	105478187	3	4	408	1	0	0	0	0	1	0	0	0	3117	159	6	5	649	5	CDCA4	14	105478187	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	60050	105478187	1871353	2852	80670											
CYFIP1	23191	broad.mit.edu	37	chr15	22929841	22929841	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatgttcgctgtgctggAcgagctgaagaacatgaagt	12	9	12	8	2	0	3	0	2	0	1	1	5	0	4	0	1	4	4	0	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:22929841A>G	ENST00000313077.7	+	6	640	c.515A>G	c.(514-516)gAc>gGc	p.D172G	CYFIP1_ENST00000560848.1_Missense_Mutation_p.D172G	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	172					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCTGTGCTGGACGAGCTGAAG	0.577													6	71					0	0	0	0	G	22929841	A	G	22929841	3	3	408	1	0	0	0	0	1	0	0	0	4169	275	10	5	533	5	CYFIP1	15	22929841	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08		22929841	79601551	2853	80671											
MKRN3	7681	broad.mit.edu	37	chr15	23811044	23811044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgtctgtgagccctccGgggaatctgctgctccagat	5	11	11	14	2	2	2	0	1	2	1	5	3	5	3	4	2	3	2	4	2	1	1	rs151216955		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:23811044G>A	ENST00000314520.3	+	1	591	c.115G>A	c.(115-117)Ggg>Agg	p.G39R	MKRN3_ENST00000564592.1_Missense_Mutation_p.G39R|MKRN3_ENST00000568252.1_Missense_Mutation_p.G39R	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	39						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGAGCCCTCCGGGGAATCTGC	0.687													15	42					0	0	0	0	A	23811044	G	A	23811044	3	1	408	1	0	0	0	0	1	0	0	0	9677	1116	39	1	117	1	MKRN3	15	23811044	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	881203	23811044	78720348	2854	80672											
MAGEL2	54551	broad.mit.edu	37	chr15	23890792	23890792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaatttgccgctgctaccgGgggtccgggctgggcctgca	6	8	15	12	3	0	0	0	0	0	0	1	0	1	0	4	4	4	4	4	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:23890792G>A	ENST00000532292.1	-	1	383	c.289C>T	c.(289-291)Ccg>Tcg	p.P97S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCTGCTACCGGGGGTCCGGGC	0.637													4	14					0	0	0	0	A	23890792	G	A	23890792	3	1	408	1	0	0	0	0	1	0	0	0	9258	1232	43	4	1655	4	MAGEL2	15	23890792	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	79748	23890792	78640600	2855	80673											
ATP10A	57194	broad.mit.edu	37	chr15	25981276	25981276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgaacgtcaaaggatTgaattcggagacctaaaata	15	9	11	6	2	1	3	1	2	0	1	2	5	1	4	1	3	1	1	1	3	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:25981276T>C	ENST00000356865.6	-	3	778	c.667A>G	c.(667-669)Aat>Gat	p.N223D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	223					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTCAAAGGATTGAATTCGGAG	0.527													5	26					0	0	0	0	C	25981276	T	C	25981276	3	2	408	1	0	0	0	0	1	0	0	0	1120	1812	63	5	3908	5	ATP10A	15	25981276	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2090484	25981276	76550116	2856	80674											
HERC2	8924	broad.mit.edu	37	chr15	28369194	28369194	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatacctttccctgggAtatcagaattcctcggagag	10	12	9	10	1	1	3	1	1	0	2	4	5	3	4	3	2	1	0	3	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:28369194A>T	ENST00000261609.7	-	85	13285	c.13177T>A	c.(13177-13179)Tcc>Acc	p.S4393T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4393					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCCTGGGATATCAGAATT	0.498											OREG0022996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	67					0	0	0	0	T	28369194	A	T	28369194	3	4	408	1	0	0	0	0	1	0	0	0	7108	333	12	5	1363	5	HERC2	15	28369194	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2387918	28369194	74162198	2857	80675											
HERC2	8924	broad.mit.edu	37	chr15	28391388	28391388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctgtccttacctgacCgcacggagacgatcctgttg	7	10	9	15	3	0	2	0	1	0	1	3	4	3	2	6	1	1	2	6	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:28391388C>T	ENST00000261609.7	-	71	11111	c.11003G>A	c.(11002-11004)cGg>cAg	p.R3668Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3668					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTACCTGACCGCACGGAGAC	0.557													19	65					0	0	0	0	T	28391388	C	T	28391388	3	4	408	1	0	0	0	0	1	0	0	0	7108	652	23	1	3593	1	HERC2	15	28391388	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	22194	28391388	74140004	2858	80676											
HERC2	8924	broad.mit.edu	37	chr15	28420789	28420789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgtggcccaatctgaagtAatccccctttcccctgagag	8	9	9	15	1	1	2	0	2	1	1	3	3	3	2	6	1	0	1	6	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:28420789A>G	ENST00000261609.7	-	64	9808	c.9700T>C	c.(9700-9702)Tac>Cac	p.Y3234H		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3234					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATCTGAAGTAATCCCCCTTT	0.532													19	41					0	0	0	0	G	28420789	A	G	28420789	3	3	408	1	0	0	0	0	1	0	0	0	7108	362	13	5	4924	5	HERC2	15	28420789	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	29401	28420789	74110603	2859	80677											
HERC2	8924	broad.mit.edu	37	chr15	28502276	28502276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggcgggggccagtccgcGgaaccatccatcccctcact	6	6	13	16	3	1	0	1	0	0	0	4	1	4	1	6	5	1	0	6	5	1	0	rs12903263	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:28502276G>A	ENST00000261609.7	-	17	2556	c.2448C>T	c.(2446-2448)tcC>tcT	p.S816S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	816					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCAGTCCGCGGAACCATCCA	0.552													33	92					0	0	0	0	A	28502276	G	A	28502276	2	1	408	1	0	0	0	0	0	0	0	1	7108	1103	39	1		1	HERC2	15	28502276	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	81487	28502276	74029116	2860	80678											
APBA2	321	broad.mit.edu	37	chr15	29346241	29346241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggagctggctgccctgCggccagagagccccgcgcca	5	4	15	17	3	0	1	0	0	0	1	0	3	0	2	6	3	4	2	6	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:29346241C>T	ENST00000558402.1	+	5	753	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	APBA2_ENST00000558330.1_Missense_Mutation_p.R52W|APBA2_ENST00000561069.1_Missense_Mutation_p.R52W|APBA2_ENST00000558259.1_Missense_Mutation_p.R52W|APBA2_ENST00000411764.1_Missense_Mutation_p.R52W			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	52					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGCTGCCCTGCGGCCAGAGAG	0.657													5	106					0	0	0	0	T	29346241	C	T	29346241	3	4	408	1	0	0	0	0	1	0	0	0	758	759	27	1	156	1	APBA2	15	29346241	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	843965	29346241	73185151	2861	80679											
NDNL2	56160	broad.mit.edu	37	chr15	29561504	29561504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttatacccgaagacgtActggaggcgctcggcggccc	8	6	13	14	5	0	1	0	0	0	1	1	3	0	2	2	4	3	3	2	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:29561504A>G	ENST00000332303.4	-	1	529	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	136	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCGAAGACGTACTGGAGGCGC	0.567													25	52					0	0	0	0	G	29561504	A	G	29561504	3	3	408	1	0	0	0	0	1	0	0	0	10318	391	14	5	512	5	NDNL2	15	29561504	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	215263	29561504	72969888	2862	80680											
TJP1	7082	broad.mit.edu	37	chr15	30058575	30058575	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagctcctctctctactTgcacttctatccctcggcca	7	12	5	17	1	3	0	0	0	3	0	7	1	5	0	3	1	3	2	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:30058575T>C	ENST00000346128.6	-	5	957	c.483A>G	c.(481-483)gcA>gcG	p.A161A	TJP1_ENST00000356107.6_Silent_p.A161A|TJP1_ENST00000400011.2_Silent_p.A165A|TJP1_ENST00000495972.2_Silent_p.A161A|TJP1_ENST00000545208.2_Silent_p.A161A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	161					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTCTCTACTTGCACTTCTAT	0.498													20	121					0	0	0	0	C	30058575	T	C	30058575	2	2	408	1	0	0	0	0	0	0	0	1	16023	1799	63	5		5	TJP1	15	30058575	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	497071	30058575	72472817	2863	80681											
MTMR10	54893	broad.mit.edu	37	chr15	31234076	31234076	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagacacgtggcagaataAcaccgtgcaggttggcgggt	11	6	15	9	3	0	2	0	0	0	2	0	3	0	2	1	4	2	3	1	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:31234076A>G	ENST00000435680.1	-	16	2028	c.1931T>C	c.(1930-1932)gTt>gCt	p.V644A	MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR|FAN1_ENST00000362065.4_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	644	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TGGCAGAATAACACCGTGCAG	0.517													15	116					0	0	0	0	G	31234076	A	G	31234076	3	3	408	1	0	0	0	0	1	0	0	0	10009	43	2	5	406	5	MTMR10	15	31234076	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1175501	31234076	71297316	2864	80682											
MTMR10	54893	broad.mit.edu	37	chr15	31253111	31253111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatcatgtaaccctcgttaAtagaacaaactctccacccg	14	10	4	13	2	2	1	1	0	1	1	4	1	2	1	3	0	3	2	3	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:31253111A>G	ENST00000435680.1	-	7	828	c.731T>C	c.(730-732)aTt>aCt	p.I244T	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000425768.1_Silent_p.L214L|MTMR10_ENST00000563714.1_Missense_Mutation_p.I162T	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	244	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ACCCTCGTTAATAGAACAAAC	0.423													5	22					0	0	0	0	G	31253111	A	G	31253111	3	3	408	1	0	0	0	0	1	0	0	0	10009	101	4	5	1642	5	MTMR10	15	31253111	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	19035	31253111	71278281	2865	80683											
TRPM1	4308	broad.mit.edu	37	chr15	31319297	31319297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacacctggttggatattGattttacttcaaagaaggta	12	14	8	7	0	1	2	1	1	0	1	2	3	2	3	2	3	1	2	2	3	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:31319297G>A	ENST00000542188.1	-	25	3681	c.3368C>T	c.(3367-3369)tCa>tTa	p.S1123L	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.S1106L|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1084L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1084					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTGGATATTGATTTTACTTC	0.378													14	61					0	0	0	0	A	31319297	G	A	31319297	3	1	408	1	0	0	0	0	1	0	0	0	16680	1294	45	2	1572	2	TRPM1	15	31319297	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	66186	31319297	71212095	2866	80684											
GREM1	26585	broad.mit.edu	37	chr15	33023168	33023168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatacctgaagcgagacTggtgcaaaacccagccgctt	13	6	10	12	2	0	2	0	1	0	1	0	3	0	2	3	1	5	3	3	1	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:33023168T>C	ENST00000300177.4	+	2	466	c.277T>C	c.(277-279)Tgg>Cgg	p.W93R	GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000322805.4_Missense_Mutation_p.W52R|GREM1_ENST00000560830.1_Missense_Mutation_p.W52R	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	93					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GAAGCGAGACTGGTGCAAAAC	0.607													15	52					0	0	0	0	C	33023168	T	C	33023168	3	2	408	1	0	0	0	0	1	0	0	0	6811	1580	55	5	279	5	GREM1	15	33023168	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1703871	33023168	69508224	2867	80685											
RYR3	6263	broad.mit.edu	37	chr15	33878260	33878260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccttaaatctgatagcGgagggccacatcaagtcgat	13	8	11	9	2	2	1	1	1	1	0	3	4	2	2	2	2	2	0	2	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:33878260G>A	ENST00000389232.4	+	16	1801	c.1731G>A	c.(1729-1731)gcG>gcA	p.A577A	RYR3_ENST00000415757.3_Silent_p.A577A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	577					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTGATAGCGGAGGGCCACA	0.448													25	61					0	0	0	0	A	33878260	G	A	33878260	2	1	408	1	0	0	0	0	0	0	0	1	13855	1103	39	1		1	RYR3	15	33878260	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	855092	33878260	68653132	2868	80686											
SLC12A6	9990	broad.mit.edu	37	chr15	34529731	34529731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggctactgtgaagatccgTatgctgcactttcgccacac	8	11	10	12	2	0	2	0	1	0	1	2	2	1	2	2	1	3	4	2	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:34529731T>C	ENST00000354181.3	-	22	3315	c.2823A>G	c.(2821-2823)atA>atG	p.I941M	SLC12A6_ENST00000558667.1_Missense_Mutation_p.I941M|SLC12A6_ENST00000558589.1_Missense_Mutation_p.I932M|SLC12A6_ENST00000560164.1_Missense_Mutation_p.I753M|SLC12A6_ENST00000560611.1_Missense_Mutation_p.I941M|SLC12A6_ENST00000397702.2_Missense_Mutation_p.I882M|SLC12A6_ENST00000458406.2_Missense_Mutation_p.I882M|SLC12A6_ENST00000290209.5_Missense_Mutation_p.I890M|SLC12A6_ENST00000451844.2_Missense_Mutation_p.I753M|SLC12A6_ENST00000397707.2_Missense_Mutation_p.I926M			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	941					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGAAGATCCGTATGCTGCACT	0.433													10	75					0	0	0	0	C	34529731	T	C	34529731	3	2	408	1	0	0	0	0	1	0	0	0	14475	1628	57	5	649	5	SLC12A6	15	34529731	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	651471	34529731	68001661	2869	80687											
GJD2	57369	broad.mit.edu	37	chr15	35045150	35045150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctctaaacaatctggCtctgtctccttactggtgtt	8	16	6	11	0	4	0	0	0	4	0	5	0	4	0	2	2	3	2	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:35045150C>T	ENST00000290374.4	-	2	971	c.495G>A	c.(493-495)gaG>gaA	p.E165E		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	165					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AACAATCTGGCTCTGTCTCCT	0.507													32	272					0	0	0	0	T	35045150	C	T	35045150	2	4	408	1	0	0	0	0	0	0	0	1	6468	796	28	4		4	GJD2	15	35045150	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	515419	35045150	67486242	2870	80688											
GPR176	11245	broad.mit.edu	37	chr15	40094085	40094085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatggagagcagggtggCgtgcagctcggcctcccgct	6	6	15	14	3	0	1	0	0	0	1	2	2	1	1	3	4	3	4	3	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:40094085C>T	ENST00000299092.3	-	4	991	c.793G>A	c.(793-795)Gcc>Acc	p.A265T	GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000561100.1_Missense_Mutation_p.A266T|GPR176_ENST00000543580.1_Missense_Mutation_p.A221T	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	266					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			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)		AGCAGGGTGGCGTGCAGCTCG	0.582											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	110					0	0	0	0	T	40094085	C	T	40094085	3	4	408	1	0	0	0	0	1	0	0	0	6722	768	27	1	755	1	GPR176	15	40094085	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5048935	40094085	62437307	2871	80689											
EIF2AK4	440275	broad.mit.edu	37	chr15	40265842	40265842	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttattcctagcaaccggctAcccagtgctgccttctttag	7	13	8	13	1	1	0	0	0	1	0	2	0	2	0	4	1	5	4	4	1	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:40265842A>G	ENST00000263791.5	+	11	1753	c.1710A>G	c.(1708-1710)ctA>ctG	p.L570L	EIF2AK4_ENST00000559624.1_Silent_p.L570L|EIF2AK4_ENST00000382727.2_Silent_p.L570L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	570					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCAACCGGCTACCCAGTGCTG	0.418													4	159					0	0	0	0	G	40265842	A	G	40265842	2	3	408	1	0	0	0	0	0	0	0	1	5035	378	14	5		5	EIF2AK4	15	40265842	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	171757	40265842	62265550	2872	80690											
PAK6	56924	broad.mit.edu	37	chr15	40557143	40557143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcggcgccccaagcccGtggtggacccttcgcgaatc	6	6	12	17	5	0	0	0	0	0	0	2	2	0	1	4	3	2	0	4	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:40557143G>A	ENST00000455577.2	+	4	1069	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	RP11-133K1.2_ENST00000558658.1_Silent_p.P146P|PAK6_ENST00000260404.4_Missense_Mutation_p.V53M|PAK6_ENST00000542403.2_Missense_Mutation_p.V53M|PAK6_ENST00000453867.1_Missense_Mutation_p.V53M|PAK6_ENST00000560346.1_Missense_Mutation_p.V53M|PAK6_ENST00000441369.1_Missense_Mutation_p.V53M	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	53	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCCCAAGCCCGTGGTGGACCC	0.622													25	82					0	0	0	0	A	40557143	G	A	40557143	3	1	408	1	0	0	0	0	1	0	0	0	11475	1145	40	1	159	1	PAK6	15	40557143	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	291301	40557143	61974249	2873	80691											
C15orf57	90416	broad.mit.edu	37	chr15	40855200	40855200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggctgtagagtcagcgctCtcaaacattttcatttggaa	10	13	10	8	1	3	1	3	0	1	1	4	2	3	2	0	2	2	3	0	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:40855200C>G	ENST00000358005.3	-	2	288	c.15G>C	c.(13-15)gaG>gaC	p.E5D	C15orf57_ENST00000560305.1_Missense_Mutation_p.E5D|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000561011.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558113.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558871.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558750.1_Missense_Mutation_p.E14D|C15orf57_ENST00000416810.2_Missense_Mutation_p.E5D|C15orf57_ENST00000559911.1_Missense_Mutation_p.E5D	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	5										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						AGTCAGCGCTCTCAAACATTT	0.443													51	175					0	0	0	0	G	40855200	C	G	40855200	3	3	408	1	0	0	0	0	1	0	0	0	1817	912	32	2	554	2	C15orf57	15	40855200	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	298057	40855200	61676192	2874	80692											
SPINT1	6692	broad.mit.edu	37	chr15	41146652	41146652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatggctgctgcatcgAcagtttcctggagtgtgacg	8	10	13	10	2	0	1	0	1	0	0	2	3	1	2	1	2	3	5	1	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41146652A>G	ENST00000344051.4	+	7	1280	c.1046A>G	c.(1045-1047)gAc>gGc	p.D349G	SPINT1_ENST00000431806.1_Missense_Mutation_p.D333G|SPINT1_ENST00000562057.1_Missense_Mutation_p.D333G			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	349	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGCTGCATCGACAGTTTCCTG	0.612													14	91					0	0	0	0	G	41146652	A	G	41146652	3	3	408	1	0	0	0	0	1	0	0	0	15158	275	10	5	1068	5	SPINT1	15	41146652	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	291452	41146652	61384740	2875	80693											
VPS18	57617	broad.mit.edu	37	chr15	41195445	41195445	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagttggtggccgctgAgtgtgtgtactgtggggagc	5	11	20	5	1	0	2	0	2	0	0	0	4	0	4	1	5	2	3	1	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41195445A>T	ENST00000220509.5	+	5	3167	c.2828A>T	c.(2827-2829)gAg>gTg	p.E943V		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	943					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGCTGAGTGTGTGTAC	0.657													11	23					0	0	0	0	T	41195445	A	T	41195445	3	4	408	1	0	0	0	0	1	0	0	0	17290	304	11	5	2846	5	VPS18	15	41195445	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	48793	41195445	61335947	2876	80694											
CHAC1	79094	broad.mit.edu	37	chr15	41247586	41247586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggctgcacttggggcGtggcataccaagtgcaaggg	8	6	16	11	1	0	0	0	0	0	0	0	0	0	0	2	5	3	4	2	5	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41247586G>A	ENST00000446533.3	+	3	718	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	CHAC1_ENST00000444189.2_Missense_Mutation_p.V137M|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	137					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CACTTGGGGCGTGGCATACCA	0.582													31	81					0	0	0	0	A	41247586	G	A	41247586	3	1	408	1	0	0	0	0	1	0	0	0	3337	1145	40	1	419	1	CHAC1	15	41247586	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	52141	41247586	61283806	2877	80695											
INO80	54617	broad.mit.edu	37	chr15	41364187	41364187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataactctccccaaacccagTgccagacttgtttgctgccc	9	10	6	16	0	1	1	0	0	1	1	2	1	1	1	5	0	5	2	5	0	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41364187T>C	ENST00000361937.3	-	12	1889	c.1465A>G	c.(1465-1467)Act>Gct	p.T489A	INO80_ENST00000401393.3_Missense_Mutation_p.T489A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	489	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCAAACCCAGTGCCAGACTTG	0.423													11	128					0	0	0	0	C	41364187	T	C	41364187	3	2	408	1	0	0	0	0	1	0	0	0	7799	1696	59	5	3305	5	INO80	15	41364187	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	116601	41364187	61167205	2878	80696											
RTF1	23168	broad.mit.edu	37	chr15	41750018	41750019	+	Frame_Shift_Del	DEL	AG	AG	-																															ctggaacagatgacagagaaAgagagagagcaagaactgtt																								rs28645240		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41750018_41750019delAG	ENST00000389629.4	+	4	618_619	c.606_607delAG	c.(604-609)aaagfs	p.KE202fs		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	202	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		TGACAGAGAAAGAGAGAGAGCA	0.515													22	136	---	---	---	---					-	41750019	AG	-	41750018	7	5	408	1	0	1	0	1	0	0	0	0	13806	69	3	0	620	0	RTF1	15	41750018	Frame_Shift_Del	DEL	AG	TCGA-F7-A624-01A-22D-A30E-08	385831	41750018	60781374	2879	80697											
MAPKBP1	23005	broad.mit.edu	37	chr15	42107539	42107539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagacaacaccatccGcctgtggaacacagagagct	12	6	8	15	1	1	2	1	0	0	2	3	4	3	3	4	1	3	1	4	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42107539G>A	ENST00000457542.2	+	11	1539	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R418H|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R424H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R301H|MAPKBP1_ENST00000260357.7_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	424										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AACACCATCCGCCTGTGGAAC	0.612													5	83					0	0	0	0	A	42107539	G	A	42107539	3	1	408	1	0	0	0	0	1	0	0	0	9361	1087	38	1	1313	1	MAPKBP1	15	42107539	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	357521	42107539	60423853	2880	80698											
MAPKBP1	23005	broad.mit.edu	37	chr15	42113858	42113858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgattattgtcacaagaggAaggggtctttgcccaagatc	11	10	11	9	1	2	2	1	0	1	2	3	4	2	3	2	3	1	0	2	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42113858A>G	ENST00000457542.2	+	24	3081	c.2795A>G	c.(2794-2796)gAa>gGa	p.E932G	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E932G|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E938G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E815G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E771G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	938										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCACAAGAGGAAGGGGTCTTT	0.512													24	142					0	0	0	0	G	42113858	A	G	42113858	3	3	408	1	0	0	0	0	1	0	0	0	9361	246	9	5	2907	5	MAPKBP1	15	42113858	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	6319	42113858	60417534	2881	80699											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42129290	42129290	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctggtatgacatggaatAcgacctcaagtatagttact	12	14	8	7	1	2	1	1	1	1	0	2	3	2	2	1	2	2	3	1	2	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42129290A>G	ENST00000542534.1	+	8	927	c.887A>G	c.(886-888)tAc>tGc	p.Y296C	JMJD7_ENST00000408047.1_Missense_Mutation_p.Y197C|JMJD7_ENST00000397299.4_Missense_Mutation_p.Y296C|JMJD7-PLA2G4B_ENST00000476036.1_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Intron	NM_001114632.1	NP_001108104.1	P0C869	PA24B_HUMAN		0	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GACATGGAATACGACCTCAAG	0.552													14	23					0	0	0	0	G	42129290	A	G	42129290	3	3	408	1	0	0	0	0	1	0	0	0	8008	391	14	5		5	JMJD7-PLA2G4B	15	42129290	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	15432	42129290	60402102	2882	80700											
SPTBN5	51332	broad.mit.edu	37	chr15	42147810	42147810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgctcgatgcgtgggCtgaacgcttccaggtctctc	5	9	13	14	4	1	1	0	1	1	0	5	2	2	1	2	2	3	4	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42147810C>T	ENST00000320955.6	-	54	9382	c.9155G>A	c.(9154-9156)aGc>aAc	p.S3052N		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3052					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATGCGTGGGCTGAACGCTTC	0.637													4	30					0	0	0	0	T	42147810	C	T	42147810	3	4	408	1	0	0	0	0	1	0	0	0	15212	797	28	4	1929	4	SPTBN5	15	42147810	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	18520	42147810	60383582	2883	80701											
PLA2G4F	255189	broad.mit.edu	37	chr15	42436233	42436233	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtccactgctctctgAggcagcagagccagtgggaa	10	7	14	10	0	1	3	0	2	1	1	3	4	2	4	2	3	3	3	2	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42436233A>G	ENST00000397272.3	-	18	2182	c.2091T>C	c.(2089-2091)ccT>ccC	p.P697P	PLA2G4F_ENST00000382396.4_Silent_p.P695P	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	695	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGCTCTCTGAGGCAGCAGAG	0.602													25	104					0	0	0	0	G	42436233	A	G	42436233	2	3	408	1	0	0	0	0	0	0	0	1	12078	291	11	5		5	PLA2G4F	15	42436233	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	288423	42436233	60095159	2884	80702											
PLA2G4F	255189	broad.mit.edu	37	chr15	42439479	42439479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacgtgaacctgggcaCgctcaatggggccctgcaag	9	6	14	12	2	1	2	1	1	0	1	1	2	1	2	2	3	3	4	2	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42439479C>T	ENST00000397272.3	-	13	1359	c.1268G>A	c.(1267-1269)cGt>cAt	p.R423H	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R421H	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	421	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AACCTGGGCACGCTCAATGGG	0.632													10	52					0	0	0	0	T	42439479	C	T	42439479	3	4	408	1	0	0	0	0	1	0	0	0	12078	536	19	1	1319	1	PLA2G4F	15	42439479	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3246	42439479	60091913	2885	80703											
CDAN1	146059	broad.mit.edu	37	chr15	43023206	43023206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatggcaggaaagccacaaAgcccaggaatttagccaaaa	17	5	10	9	0	0	0	0	0	0	0	0	2	0	2	3	3	3	2	3	3	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43023206A>G	ENST00000356231.3	-	13	1947	c.1924T>C	c.(1924-1926)Ttt>Ctt	p.F642L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	642						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AAAGCCACAAAGCCCAGGAAT	0.562													37	112					0	0	0	0	G	43023206	A	G	43023206	3	3	408	1	0	0	0	0	1	0	0	0	3083	72	3	5	1823	5	CDAN1	15	43023206	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	583727	43023206	59508186	2886	80704											
UBR1	197131	broad.mit.edu	37	chr15	43340688	43340688	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtttgctgatcaggatatAcctatcgtttcaagaaagaa	13	12	10	6	1	2	3	2	1	0	2	3	4	2	4	1	2	2	3	1	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43340688A>G	ENST00000290650.4	-	13	1519	c.1439_splice	c.e13-1	p.Y481_splice	UBR1_ENST00000382177.2_Splice_Site_p.Y481_splice	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	481					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATCAGGATATACCTATCGTTT	0.308													13	22					0	0	0	0	G	43340688	A	G	43340688	5	3	408	1	0	0	0	0	0	0	1	0	16997	405	14	5	3948	5	UBR1	15	43340688	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	317482	43340688	59190704	2887	80705											
TMEM62	80021	broad.mit.edu	37	chr15	43461855	43461855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcattatttttagatatcGaggatacccagagcttaaag	13	14	7	7	1	1	2	1	0	1	2	3	4	1	3	1	1	2	1	1	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43461855G>A	ENST00000260403.2	+	11	1640	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	454						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTTAGATATCGAGGATACCCA	0.378													7	45					0	0	0	0	A	43461855	G	A	43461855	3	1	408	1	0	0	0	0	1	0	0	0	16283	1058	37	1	1403	1	TMEM62	15	43461855	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	121167	43461855	59069537	2888	80706											
EPB42	2038	broad.mit.edu	37	chr15	43502557	43502557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccaacacacgggccacGtgcaccggctggctccactt	8	5	10	18	3	0	0	0	0	0	0	1	0	1	0	4	3	2	4	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43502557G>A	ENST00000300215.3	-	5	1177	c.720C>T	c.(718-720)caC>caT	p.H240H	EPB42_ENST00000540029.1_Silent_p.H132H|EPB42_ENST00000441366.2_Silent_p.H210H			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	210					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CACGGGCCACGTGCACCGGCT	0.597													54	120					0	0	0	0	A	43502557	G	A	43502557	2	1	408	1	0	0	0	0	0	0	0	1	5196	1136	40	1		1	EPB42	15	43502557	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	40702	43502557	59028835	2889	80707											
TUBGCP4	27229	broad.mit.edu	37	chr15	43663574	43663574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatccacgaactgctcttgGctctgagcgggtaccctggg	6	10	13	12	2	2	2	0	2	2	0	3	3	3	2	2	3	4	3	2	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43663574G>A	ENST00000564079.1	+	1	262	c.22G>A	c.(22-24)Gct>Act	p.A8T	TUBGCP4_ENST00000570081.1_Intron|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.A8T	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	8					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ACTGCTCTTGGCTCTGAGCGG	0.647											OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	25					0	0	0	0	A	43663574	G	A	43663574	3	1	408	1	0	0	0	0	1	0	0	0	16864	1203	42	4	24	4	TUBGCP4	15	43663574	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	161017	43663574	58867818	2890	80708											
TP53BP1	7158	broad.mit.edu	37	chr15	43738703	43738703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagaatccccttttccactCccaagtatgggatcatgggt	9	11	8	13	0	1	1	1	0	0	1	4	2	4	2	5	2	0	1	5	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43738703C>T	ENST00000263801.3	-	14	3159	c.2907G>A	c.(2905-2907)ggG>ggA	p.G969G	TP53BP1_ENST00000450115.2_Silent_p.G974G|TP53BP1_ENST00000382039.3_Silent_p.G974G|TP53BP1_ENST00000382044.4_Silent_p.G974G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	969					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTTTCCACTCCCAAGTATGG	0.468								Other conserved DNA damage response genes					15	144					0	0	0	0	T	43738703	C	T	43738703	2	4	408	1	0	0	0	0	0	0	0	1	16478	842	30	2		2	TP53BP1	15	43738703	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	75129	43738703	58792689	2891	80709											
TP53BP1	7158	broad.mit.edu	37	chr15	43748260	43748260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaactcctggtcaagtcttAaaggatcatctgctctcact	10	12	7	12	0	5	0	3	0	3	0	7	1	6	1	1	2	2	2	1	2	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43748260A>G	ENST00000263801.3	-	12	2783	c.2531T>C	c.(2530-2532)tTa>tCa	p.L844S	TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000450115.2_Missense_Mutation_p.L849S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.L849S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.L849S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	844					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTCAAGTCTTAAAGGATCATC	0.423								Other conserved DNA damage response genes					61	101					0	0	0	0	G	43748260	A	G	43748260	3	3	408	1	0	0	0	0	1	0	0	0	16478	372	13	5	3455	5	TP53BP1	15	43748260	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	9557	43748260	58783132	2892	80710											
MAP1A	4130	broad.mit.edu	37	chr15	43815131	43815131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaagagtcaaaatagAcaggagccgtgctatccgtg	12	7	12	10	2	1	2	1	0	0	2	2	4	2	4	3	2	2	1	3	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43815131A>G	ENST00000382031.1	+	5	2205	c.2174A>G	c.(2173-2175)gAc>gGc	p.D725G	MAP1A_ENST00000399453.1_Missense_Mutation_p.D487G|MAP1A_ENST00000300231.5_Missense_Mutation_p.D487G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	487						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTCAAAATAGACAGGAGCCGT	0.542													5	33					0	0	0	0	G	43815131	A	G	43815131	3	3	408	1	0	0	0	0	1	0	0	0	9296	275	10	5	1462	5	MAP1A	15	43815131	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	66871	43815131	58716261	2893	80711											
ELL3	80237	broad.mit.edu	37	chr15	44067752	44067752	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgccatgtgctccctTgaggatcctgggagtgactg	6	11	13	11	0	0	2	0	2	0	0	2	4	2	4	3	2	2	1	3	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:44067752T>C	ENST00000319359.3	-	5	1181	c.540A>G	c.(538-540)tcA>tcG	p.S180S	RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	180					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TGTGCTCCCTTGAGGATCCTG	0.522											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	52					0	0	0	0	C	44067752	T	C	44067752	2	2	408	1	0	0	0	0	0	0	0	1	5102	1799	63	5		5	ELL3	15	44067752	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	252621	44067752	58463640	2894	80712											
DUOX2	50506	broad.mit.edu	37	chr15	45401114	45401114	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctgctggccacatagTctgtacgggagaatttgcca	9	10	13	9	1	1	1	0	0	1	1	1	3	1	2	2	3	4	3	2	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:45401114T>C	ENST00000389039.6	-	12	1656	c.1271A>G	c.(1270-1272)gAc>gGc	p.D424G	DUOX2_ENST00000603300.1_Missense_Mutation_p.D424G			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	424	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGCCACATAGTCTGTACGGGA	0.562													20	51					0	0	0	0	C	45401114	T	C	45401114	3	2	408	1	0	0	0	0	1	0	0	0	4837	1667	58	5	3467	5	DUOX2	15	45401114	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1333362	45401114	57130278	2895	80713											
DUOXA1	90527	broad.mit.edu	37	chr15	45412817	45412817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaggtgtagtgtcccGccaggcggtactggcggtat	5	10	17	9	3	0	1	0	1	0	0	1	1	1	1	2	6	1	4	2	6	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:45412817G>A	ENST00000558996.1	-	4	446	c.392C>T	c.(391-393)gCg>gTg	p.A131V	DUOXA1_ENST00000559014.1_Missense_Mutation_p.A176V|DUOXA1_ENST00000560572.1_Missense_Mutation_p.A176V|DUOXA1_ENST00000558422.1_Missense_Mutation_p.A131V|DUOXA1_ENST00000430224.2_Missense_Mutation_p.A131V|DUOXA1_ENST00000267803.4_Missense_Mutation_p.A176V	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	176					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GTAGTGTCCCGCCAGGCGGTA	0.577													59	98					0	0	0	0	A	45412817	G	A	45412817	3	1	408	1	0	0	0	0	1	0	0	0	4838	1087	38	1	944	1	DUOXA1	15	45412817	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	11703	45412817	57118575	2896	80714											
SQRDL	58472	broad.mit.edu	37	chr15	45954196	45954196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacactggtgggtgctggtgCcaaacaattgtcctcatctg	8	11	12	10	0	2	0	1	0	1	0	3	1	3	0	2	3	3	1	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:45954196C>T	ENST00000260324.7	+	3	664	c.278C>T	c.(277-279)gCc>gTc	p.A93V	SQRDL_ENST00000568606.1_Missense_Mutation_p.A93V|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.A93V	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	93							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GGTGCTGGTGCCAAACAATTG	0.448													19	29					0	0	0	0	T	45954196	C	T	45954196	3	4	408	1	0	0	0	0	1	0	0	0	15219	739	26	4	284	4	SQRDL	15	45954196	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	541379	45954196	56577196	2897	80715											
SECISBP2L	9728	broad.mit.edu	37	chr15	49327791	49327791	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataatgggataggcaaagtAtggtccagtagggtttggat	12	12	14	3	0	0	0	0	0	0	0	1	2	1	2	1	5	0	4	1	5	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:49327791A>G	ENST00000559471.1	-	3	531	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	90										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGGCAAAGTATGGTCCAGTA	0.403													37	117					0	0	0	0	G	49327791	A	G	49327791	3	3	408	1	0	0	0	0	1	0	0	0	14094	449	16	5	2962	5	SECISBP2L	15	49327791	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3373595	49327791	53203601	2898	80716											
TRPM7	54822	broad.mit.edu	37	chr15	50868071	50868071	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaatattactgacctgaaTaatagtaatttgtatccata	15	17	4	5	0	0	2	0	2	0	0	1	2	1	2	2	0	1	2	2	0	9	10			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:50868071T>C	ENST00000313478.7	-	32	4945	c.4664A>G	c.(4663-4665)tAt>tGt	p.Y1555C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1554C|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1555					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTGACCTGAATAATAGTAATT	0.294													4	46					0	0	0	0	C	50868071	T	C	50868071	3	2	408	1	0	0	0	0	1	0	0	0	16686	1406	49	5	965	5	TRPM7	15	50868071	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1540280	50868071	51663321	2899	80717											
CYP19A1	1588	broad.mit.edu	37	chr15	51503019	51503019	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctagtgttccagacAcctgtctgagtttcttgggg	5	15	10	11	0	3	2	0	1	3	1	5	2	4	2	3	2	0	2	3	2	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:51503019A>G	ENST00000396402.1	-	10	1651	c.1498T>C	c.(1498-1500)Tgt>Cgt	p.C500R	CYP19A1_ENST00000396404.4_Missense_Mutation_p.C500R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.C500R|CYP19A1_ENST00000559878.1_Missense_Mutation_p.C500R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	500					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TGTTCCAGACACCTGTCTGAG	0.448													35	160					0	0	0	0	G	51503019	A	G	51503019	3	3	408	1	0	0	0	0	1	0	0	0	4180	159	6	5	17	5	CYP19A1	15	51503019	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	634948	51503019	51028373	2900	80718											
CYP19A1	1588	broad.mit.edu	37	chr15	51504657	51504657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatcttctaaggctttgcGcatgaccaagtccacgacag	11	10	8	12	2	3	1	1	1	2	0	4	2	4	1	2	1	1	2	2	1	2	3	rs121434536		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:51504657G>A	ENST00000396402.1	-	9	1276	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	CYP19A1_ENST00000396404.4_Missense_Mutation_p.R375C|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R375C|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R375C	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	375			R -> C (in AROD).|R -> L.		estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AAGGCTTTGCGCATGACCAAG	0.408													16	89					0	0	0	0	A	51504657	G	A	51504657	3	1	408	1	0	0	0	0	1	0	0	0	4180	1087	38	1	396	1	CYP19A1	15	51504657	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1638	51504657	51026735	2901	80719											
GLDN	342035	broad.mit.edu	37	chr15	51696750	51696750	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaatcctctatgtcacAgacaccaaagatatgagggt	14	8	10	9	1	2	3	1	1	1	2	3	5	3	4	2	2	0	0	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:51696750A>G	ENST00000335449.6	+	10	1511	c.1455A>G	c.(1453-1455)acA>acG	p.T485T	GLDN_ENST00000396399.2_Silent_p.T361T	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	485	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTATGTCACAGACACCAAAG	0.453													29	124					0	0	0	0	G	51696750	A	G	51696750	2	3	408	1	0	0	0	0	0	0	0	1	6485	175	7	5		5	GLDN	15	51696750	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	192093	51696750	50834642	2902	80720											
MYO5A	4644	broad.mit.edu	37	chr15	52609406	52609406	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcagccattcttccagttGactgacattgtacctatgaa	11	12	7	11	1	1	3	0	3	1	0	2	3	2	3	3	0	2	3	3	0	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52609406G>A	ENST00000399231.3	-	39	5416	c.5173C>T	c.(5173-5175)Caa>Taa	p.Q1725*	MYO5A_ENST00000358212.6_Nonsense_Mutation_p.Q1750*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.Q1722*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.Q1698*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.Q1723*	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1725	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTTCCAGTTGACTGACATTG	0.388													15	32					0	0	0	0	A	52609406	G	A	52609406	4	1	408	1	0	0	0	0	0	1	0	0	10148	1299	45	2	406	2	MYO5A	15	52609406	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	912656	52609406	49921986	2903	80721											
MYO5A	4644	broad.mit.edu	37	chr15	52671835	52671835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccagtatcagtttcTctaacacattcttgcatgtt	9	17	4	11	0	4	0	2	0	3	0	6	0	4	0	1	0	2	4	1	0	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52671835T>C	ENST00000399231.3	-	18	2438	c.2195A>G	c.(2194-2196)gAg>gGg	p.E732G	MYO5A_ENST00000358212.6_Missense_Mutation_p.E732G|MYO5A_ENST00000399233.2_Missense_Mutation_p.E732G|MYO5A_ENST00000356338.6_Missense_Mutation_p.E732G|MYO5A_ENST00000553916.1_Missense_Mutation_p.E732G	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	732	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TATCAGTTTCTCTAACACATT	0.433													9	82					0	0	0	0	C	52671835	T	C	52671835	3	2	408	1	0	0	0	0	1	0	0	0	10148	1551	54	5	3468	5	MYO5A	15	52671835	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	62429	52671835	49859557	2904	80722											
MYO5A	4644	broad.mit.edu	37	chr15	52672031	52672031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctcaccgtgaggggaaaCcggccgcactgattcggatg	9	6	15	11	4	1	2	1	2	0	0	2	4	1	4	3	5	1	2	3	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52672031C>T	ENST00000399231.3	-	17	2330	c.2087G>A	c.(2086-2088)gGt>gAt	p.G696D	MYO5A_ENST00000358212.6_Missense_Mutation_p.G696D|MYO5A_ENST00000399233.2_Missense_Mutation_p.G696D|MYO5A_ENST00000356338.6_Missense_Mutation_p.G696D|MYO5A_ENST00000553916.1_Missense_Mutation_p.G696D	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	696	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGAGGGGAAACCGGCCGCACT	0.448													18	136					0	0	0	0	T	52672031	C	T	52672031	3	4	408	1	0	0	0	0	1	0	0	0	10148	507	18	4	3580	4	MYO5A	15	52672031	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	196	52672031	49859361	2905	80723											
MYO5A	4644	broad.mit.edu	37	chr15	52684237	52684237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatggaatttgttccttcaTatattcttcttgctccaatt	8	19	4	10	0	3	0	1	0	2	0	5	1	5	1	3	1	1	2	3	1	4	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52684237T>C	ENST00000399231.3	-	12	1675	c.1432A>G	c.(1432-1434)Atg>Gtg	p.M478V	MYO5A_ENST00000358212.6_Missense_Mutation_p.M478V|MYO5A_ENST00000399233.2_Missense_Mutation_p.M478V|MYO5A_ENST00000356338.6_Missense_Mutation_p.M478V|MYO5A_ENST00000553916.1_Missense_Mutation_p.M478V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	478	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTTCCTTCATATATTCTTCT	0.313													6	32					0	0	0	0	C	52684237	T	C	52684237	3	2	408	1	0	0	0	0	1	0	0	0	10148	1406	49	5	4255	5	MYO5A	15	52684237	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	12206	52684237	49847155	2906	80724											
MYO5A	4644	broad.mit.edu	37	chr15	52697557	52697557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggatgccagcaagtattCggaaaattcccatttgatga	14	10	10	7	1	0	2	0	2	0	0	2	5	1	4	2	2	2	2	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52697557C>T	ENST00000399231.3	-	9	1223	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	MYO5A_ENST00000358212.6_Missense_Mutation_p.R327Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R327Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R327Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R327Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	327	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGCAAGTATTCGGAAAATTCC	0.378													12	34					0	0	0	0	T	52697557	C	T	52697557	3	4	408	1	0	0	0	0	1	0	0	0	10148	884	31	1	4719	1	MYO5A	15	52697557	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	13320	52697557	49833835	2907	80725											
RSL24D1	51187	broad.mit.edu	37	chr15	55484953	55484953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagctgctttccggaatgCtttggtccacctaactttgc	7	13	8	13	1	0	0	0	0	0	0	2	1	2	1	4	2	5	3	4	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:55484953C>T	ENST00000260443.4	-	2	336	c.160G>A	c.(160-162)Gca>Aca	p.A54T	RSL24D1_ENST00000565854.1_5'UTR	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	54					ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						TTCCGGAATGCTTTGGTCCAC	0.348													23	75					0	0	0	0	T	55484953	C	T	55484953	3	4	408	1	0	0	0	0	1	0	0	0	13786	797	28	4	351	4	RSL24D1	15	55484953	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2787396	55484953	47046439	2908	80726											
DYX1C1	161582	broad.mit.edu	37	chr15	55790030	55790030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgggagcataaagaaatgCctcaaataaaaatggaggaa	20	7	10	4	0	1	1	1	0	0	1	1	4	1	4	1	3	2	1	1	3	9	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:55790030C>T	ENST00000321149.3	-	3	518	c.151G>A	c.(151-153)Gca>Aca	p.A51T	DYX1C1_ENST00000457155.2_Missense_Mutation_p.A51T|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Missense_Mutation_p.A51T|DYX1C1_ENST00000448430.2_Missense_Mutation_p.A51T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.A51T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	51	CS.|Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TAAAGAAATGCCTCAAATAAA	0.393													30	74					0	0	0	0	T	55790030	C	T	55790030	3	4	408	1	0	0	0	0	1	0	0	0	4898	739	26	4	1246	4	DYX1C1	15	55790030	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	305077	55790030	46741362	2909	80727											
ALDH1A2	8854	broad.mit.edu	37	chr15	58256134	58256134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactccccactacgcgcctCttggcccgctccacgcttct	4	9	8	20	4	2	0	0	0	2	0	4	1	4	1	5	2	1	2	5	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:58256134C>G	ENST00000249750.4	-	9	1802	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K324N|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K249N|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K316N|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.K307N	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	345					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTACGCGCCTCTTGGCCCGCT	0.522													22	110					0	0	0	0	G	58256134	C	G	58256134	3	3	408	1	0	0	0	0	1	0	0	0	491	912	32	2	541	2	ALDH1A2	15	58256134	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2466104	58256134	44275258	2910	80728											
FAM63B	54629	broad.mit.edu	37	chr15	59102491	59102491	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggatgtaaatgtaagAttcactggtgttcgagtgtt	9	14	13	5	1	1	1	1	0	0	1	2	3	1	2	1	3	0	4	1	3	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:59102491A>T	ENST00000559228.1	+	4	1108	c.1026A>T	c.(1024-1026)agA>agT	p.R342S	FAM63B_ENST00000450403.2_Missense_Mutation_p.R342S			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	342										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TAAATGTAAGATTCACTGGTG	0.378													26	77					0	0	0	0	T	59102491	A	T	59102491	3	4	408	1	0	0	0	0	1	0	0	0	5643	330	12	5	1040	5	FAM63B	15	59102491	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	846357	59102491	43428901	2911	80729											
RNF111	54778	broad.mit.edu	37	chr15	59323315	59323315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaaaacgcaaaagccaGcaggctggcccttcgtatgt	14	6	11	10	2	0	0	0	0	0	0	1	1	0	1	2	3	3	4	2	3	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:59323315G>A	ENST00000348370.4	+	2	727	c.294G>A	c.(292-294)caG>caA	p.Q98Q	RNF111_ENST00000557998.1_Silent_p.Q98Q|RNF111_ENST00000561186.1_Silent_p.Q98Q|RNF111_ENST00000434298.1_Silent_p.Q98Q|RNF111_ENST00000559209.1_Silent_p.Q98Q	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	98					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCAAAAGCCAGCAGGCTGGCC	0.423													22	85					0	0	0	0	A	59323315	G	A	59323315	2	1	408	1	0	0	0	0	0	0	0	1	13510	962	34	4		4	RNF111	15	59323315	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	220824	59323315	43208077	2912	80730											
RNF111	54778	broad.mit.edu	37	chr15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-																															tccaggcgggcacatgaacgCcccccaccccatccacatag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:59376343delC	ENST00000348370.4	+	9	2746	c.2313delC	c.(2311-2313)cgfs	p.R771fs	RNF111_ENST00000559209.1_Frame_Shift_Del_p.R780fs|RNF111_ENST00000557998.1_Frame_Shift_Del_p.R771fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.R780fs|RNF111_ENST00000434298.1_Frame_Shift_Del_p.R780fs	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CACATGAACGCCCCCCACCCC	0.443													16	57	---	---	---	---					-	59376343	C	-	59376343	7	5	408	1	0	1	0	1	0	0	0	0	13510	726	26	0	2343	0	RNF111	15	59376343	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	53028	59376343	43155049	2913	80731											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499756	59499756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcatttcccaaaaaccGtattattggaagcggctgta	12	11	10	8	2	0	0	0	0	0	0	1	2	1	1	2	2	3	4	2	2	6	5	rs151212931	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:59499756G>A	ENST00000307144.4	+	1	715	c.617G>A	c.(616-618)cGt>cAt	p.R206H	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	206					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CCCAAAAACCGTATTATTGGA	0.423													66	131					0	0	0	0	A	59499756	G	A	59499756	3	1	408	1	0	0	0	0	1	0	0	0	8753	1145	40	1	619	1	LDHAL6B	15	59499756	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	123413	59499756	43031636	2914	80732											
TLN2	83660	broad.mit.edu	37	chr15	63125774	63125774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccattgctgctgccacaagCgccctggtcaaatcggcctc	7	9	9	16	2	1	0	1	0	0	0	4	0	2	0	4	2	4	2	4	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:63125774C>T	ENST00000561311.1	+	54	7304	c.7074C>T	c.(7072-7074)agC>agT	p.S2358S	TLN2_ENST00000306829.6_Silent_p.S2358S|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2358	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCACAAGCGCCCTGGTCA	0.537													31	125					0	0	0	0	T	63125774	C	T	63125774	2	4	408	1	0	0	0	0	0	0	0	1	16042	767	27	1		1	TLN2	15	63125774	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3626018	63125774	39405618	2915	80733											
LACTB	114294	broad.mit.edu	37	chr15	63419875	63419875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatttaaaaatgatcctttGttcttcaaacctggtgagtg	11	17	7	6	0	2	2	1	2	1	0	3	2	3	2	2	1	1	1	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:63419875G>A	ENST00000413507.2	+	4	978	c.939G>A	c.(937-939)ttG>ttA	p.L313L	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Silent_p.L313L	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	313						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ATGATCCTTTGTTCTTCAAAC	0.313													4	26					0	0	0	0	A	63419875	G	A	63419875	2	1	408	1	0	0	0	0	0	0	0	1	8650	1368	48	4		4	LACTB	15	63419875	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	294101	63419875	39111517	2916	80734											
HERC1	8925	broad.mit.edu	37	chr15	63904622	63904622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatccacctcacggtacCgcaccactttcttcaagact	9	10	5	17	2	4	1	3	0	1	1	5	1	5	1	4	1	1	3	4	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:63904622C>T	ENST00000443617.2	-	77	14315	c.14228G>A	c.(14227-14229)cGg>cAg	p.R4743Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4743	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCACGGTACCGCACCACTTT	0.552													12	85					0	0	0	0	T	63904622	C	T	63904622	3	4	408	1	0	0	0	0	1	0	0	0	7107	652	23	1	365	1	HERC1	15	63904622	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	484747	63904622	38626770	2917	80735											
HERC1	8925	broad.mit.edu	37	chr15	64067489	64067489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtgcataaaagacacGctggagtacaagcagtcgtt	16	7	11	7	2	0	2	0	0	0	2	1	3	0	3	0	1	3	5	0	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:64067489G>A	ENST00000443617.2	-	2	421	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	112					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAAAAGACACGCTGGAGTACA	0.473													37	58					0	0	0	0	A	64067489	G	A	64067489	3	1	408	1	0	0	0	0	1	0	0	0	7107	1087	38	1	14559	1	HERC1	15	64067489	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	162867	64067489	38463903	2918	80736											
HERC1	8925	broad.mit.edu	37	chr15	64067503	64067503	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacgctggagtacaagcAgtcgttttctaagtgccccg	10	9	11	11	3	1	1	0	0	1	1	2	2	1	2	2	1	3	4	2	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:64067503A>T	ENST00000443617.2	-	2	407	c.320T>A	c.(319-321)cTg>cAg	p.L107Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	107					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGTACAAGCAGTCGTTTTCT	0.478													14	70					0	0	0	0	T	64067503	A	T	64067503	3	4	408	1	0	0	0	0	1	0	0	0	7107	188	7	5	14573	5	HERC1	15	64067503	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	14	64067503	38463889	2919	80737											
PPIB	5479	broad.mit.edu	37	chr15	64449054	64449054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcacccagccaggcccgTagtgcttcagtttgaagttc	7	11	10	13	1	2	1	2	1	0	0	3	1	2	1	3	1	3	5	3	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:64449054T>C	ENST00000300026.3	-	4	616	c.398A>G	c.(397-399)tAc>tGc	p.Y133C	PPIB_ENST00000558492.1_5'UTR|SNX22_ENST00000325881.4_3'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	133	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GCCAGGCCCGTAGTGCTTCAG	0.557													26	88					0	0	0	0	C	64449054	T	C	64449054	3	2	408	1	0	0	0	0	1	0	0	0	12395	1638	57	5	260	5	PPIB	15	64449054	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	381551	64449054	38082338	2920	80738											
TRIP4	9325	broad.mit.edu	37	chr15	64710846	64710846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgaatccaggatcaagAatttcaggaaggctttgatg	12	11	12	6	1	2	2	2	1	0	1	3	5	3	4	1	3	1	2	1	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:64710846A>G	ENST00000261884.3	+	9	1337	c.1277A>G	c.(1276-1278)gAa>gGa	p.E426G		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	426					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CAGGATCAAGAATTTCAGGAA	0.468													19	49					0	0	0	0	G	64710846	A	G	64710846	3	3	408	1	0	0	0	0	1	0	0	0	16653	246	9	5	1311	5	TRIP4	15	64710846	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	261792	64710846	37820546	2921	80739											
CLPX	10845	broad.mit.edu	37	chr15	65449183	65449183	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatactcaactgcttactTgctgaacgccttctccacct	11	12	4	14	1	2	1	1	1	1	0	3	1	2	1	3	0	6	2	3	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65449183T>C	ENST00000300107.3	-	9	1333	c.1146_splice	c.e9+1	p.Q382_splice		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	382					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						ACTGCTTACTTGCTGAACGCC	0.393													5	61					0	0	0	0	C	65449183	T	C	65449183	5	2	408	1	0	0	0	0	0	0	1	0	3586	1826	63	5	780	5	CLPX	15	65449183	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	738337	65449183	37082209	2922	80740											
CLPX	10845	broad.mit.edu	37	chr15	65450102	65450102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgttgtgctttttccaCattataattggcatcttgga	8	18	7	8	0	1	0	0	0	1	0	2	1	2	1	2	2	1	3	2	2	2	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65450102C>T	ENST00000300107.3	-	8	1227	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	347					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTTTTTCCACATTATAATTG	0.358													48	90					0	0	0	0	T	65450102	C	T	65450102	3	4	408	1	0	0	0	0	1	0	0	0	3586	478	17	4	890	4	CLPX	15	65450102	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	919	65450102	37081290	2923	80741											
CILP	8483	broad.mit.edu	37	chr15	65490345	65490345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcaagaacctctcactcCggtaggccctcaccttaaca	11	8	7	15	1	2	1	2	0	1	1	4	1	3	1	4	3	2	2	4	3	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65490345C>T	ENST00000261883.4	-	9	2445	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	760					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTCTCACTCCGGTAGGCCCT	0.547													61	161					0	0	0	0	T	65490345	C	T	65490345	3	4	408	1	0	0	0	0	1	0	0	0	3458	652	23	1	1279	1	CILP	15	65490345	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	40243	65490345	37041047	2924	80742											
IGDCC3	9543	broad.mit.edu	37	chr15	65624371	65624371	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcggtggctcaccctgggcTtggcaggtgaacatggctgt	5	9	17	10	1	1	1	1	1	0	0	1	1	1	1	1	7	1	4	1	7	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65624371T>C	ENST00000327987.4	-	7	1307	c.1056A>G	c.(1054-1056)caA>caG	p.Q352Q	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	352	Ig-like C2-type 4.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCCTGGGCTTGGCAGGTGA	0.602													24	43					0	0	0	0	C	65624371	T	C	65624371	2	2	408	1	0	0	0	0	0	0	0	1	7621	1606	56	5		5	IGDCC3	15	65624371	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	134026	65624371	36907021	2925	80743											
DENND4A	10260	broad.mit.edu	37	chr15	65983808	65983808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtttcgtgtttcatttgTatcttcaagagatgatatta	11	19	7	4	1	3	2	2	1	1	1	4	3	3	2	0	0	0	3	0	0	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65983808T>C	ENST00000443035.3	-	23	3336	c.3121A>G	c.(3121-3123)Aca>Gca	p.T1041A	DENND4A_ENST00000431932.2_Missense_Mutation_p.T998A	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	998					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTTTCATTTGTATCTTCAAGA	0.338													5	16					0	0	0	0	C	65983808	T	C	65983808	3	2	408	1	0	0	0	0	1	0	0	0	4470	1638	57	5	2643	5	DENND4A	15	65983808	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	359437	65983808	36547584	2926	80744											
MEGF11	84465	broad.mit.edu	37	chr15	66223200	66223200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatctactggggagcaggTgccaccattgttacagctac	9	9	11	12	0	1	0	0	0	1	0	1	1	1	1	3	3	6	3	3	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:66223200T>C	ENST00000409699.2	-	11	1541	c.1369A>G	c.(1369-1371)Acc>Gcc	p.T457A	MEGF11_ENST00000288745.3_Missense_Mutation_p.T382A|MEGF11_ENST00000422354.1_Missense_Mutation_p.T457A|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Missense_Mutation_p.T457A|MEGF11_ENST00000395625.2_Missense_Mutation_p.T382A			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	457	EGF-like 8.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGGAGCAGGTGCCACCATTG	0.577													13	93					0	0	0	0	C	66223200	T	C	66223200	3	2	408	1	0	0	0	0	1	0	0	0	9530	1696	59	5	1817	5	MEGF11	15	66223200	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	239392	66223200	36308192	2927	80745											
SMAD3	4088	broad.mit.edu	37	chr15	67459160	67459160	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagatggagaaaccagTgaccaccagatgaaccacag	17	4	11	9	0	0	6	0	3	0	3	0	7	0	6	4	1	2	0	4	1	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:67459160T>C	ENST00000327367.4	+	4	886	c.576T>C	c.(574-576)agT>agC	p.S192S	SMAD3_ENST00000540846.2_Silent_p.S87S|SMAD3_ENST00000537194.2_5'UTR|SMAD3_ENST00000439724.3_Silent_p.S148S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	192	Linker.				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			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)		GAGAAACCAGTGACCACCAGA	0.527													3	6					0	0	0	0	C	67459160	T	C	67459160	2	2	408	1	0	0	0	0	0	0	0	1	14847	1693	59	5		5	SMAD3	15	67459160	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1235960	67459160	35072232	2928	80746											
AAGAB	79719	broad.mit.edu	37	chr15	67496391	67496391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctgattacctttcatttCctttaactttgaaaagagtc	11	17	5	8	0	2	3	1	2	1	1	4	4	3	3	2	0	2	0	2	0	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:67496391C>T	ENST00000261880.5	-	8	915	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	AAGAB_ENST00000561452.1_Missense_Mutation_p.E162K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E162K|AAGAB_ENST00000538028.1_5'UTR	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	271					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTTTCATTTCCTTTAACTTT	0.363													7	22					0	0	0	0	T	67496391	C	T	67496391	3	4	408	1	0	0	0	0	1	0	0	0	15	864	30	2	148	2	AAGAB	15	67496391	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	37231	67496391	35035001	2929	80747											
FEM1B	10116	broad.mit.edu	37	chr15	68582120	68582120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattgtgaaatacttggttGaaaataatgccaacatcagc	16	11	7	7	0	1	2	1	2	0	0	1	2	1	2	1	1	4	1	1	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:68582120G>A	ENST00000306917.4	+	2	1039	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	142					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ATACTTGGTTGAAAATAATGC	0.453													12	55					0	0	0	0	A	68582120	G	A	68582120	3	1	408	1	0	0	0	0	1	0	0	0	5855	1291	45	2	430	2	FEM1B	15	68582120	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1085729	68582120	33949272	2930	80748											
ITGA11	22801	broad.mit.edu	37	chr15	68605148	68605148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggaggcccgataccatcgTatctctccagcgagctgttg	8	9	12	12	3	1	0	0	0	1	0	4	3	2	1	3	2	3	3	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:68605148T>C	ENST00000423218.2	-	24	3031	c.2936A>G	c.(2935-2937)tAc>tGc	p.Y979C	ITGA11_ENST00000315757.7_Missense_Mutation_p.Y979C			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	979					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GATACCATCGTATCTCTCCAG	0.637													3	43					0	0	0	0	C	68605148	T	C	68605148	3	2	408	1	0	0	0	0	1	0	0	0	7927	1638	57	5	658	5	ITGA11	15	68605148	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	23028	68605148	33926244	2931	80749											
ITGA11	22801	broad.mit.edu	37	chr15	68695275	68695275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttattgccactgatgTcgtgctgctgcactgtgtag	7	13	10	11	1	0	1	0	1	0	0	1	1	0	1	2	0	4	4	2	0	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:68695275T>C	ENST00000423218.2	-	2	241	c.146A>G	c.(145-147)gAc>gGc	p.D49G	ITGA11_ENST00000315757.7_Missense_Mutation_p.D49G			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	49					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCCACTGATGTCGTGCTGCTG	0.627													10	15					0	0	0	0	C	68695275	T	C	68695275	3	2	408	1	0	0	0	0	1	0	0	0	7927	1667	58	5	3536	5	ITGA11	15	68695275	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	90127	68695275	33836117	2932	80750											
SPESP1	246777	broad.mit.edu	37	chr15	69238372	69238372	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgttgccagttgttactGaatcatctacaagtccatat	12	14	7	8	0	2	1	1	1	1	0	3	2	3	1	2	0	3	3	2	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:69238372G>T	ENST00000310673.3	+	2	653	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	167					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AGTTGTTACTGAATCATCTAC	0.448													23	133					1.10513e-12	1.15186e-12	1	0	T	69238372	G	T	69238372	4	4	408	1	0	0	0	0	0	1	0	0	15130	1291	45	2	505	2	SPESP1	15	69238372	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	543097	69238372	33293020	2933	80751											
GLCE	26035	broad.mit.edu	37	chr15	69548582	69548582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatggaaaggtggttcagtAtgatggctatgatcggtttg	9	15	14	3	1	1	2	1	2	0	0	2	3	1	3	0	5	0	4	0	5	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:69548582A>G	ENST00000261858.2	+	3	665	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	GLCE_ENST00000559420.2_Missense_Mutation_p.Y82C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	146					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GTGGTTCAGTATGATGGCTAT	0.423													76	230					0	0	0	0	G	69548582	A	G	69548582	3	3	408	1	0	0	0	0	1	0	0	0	6483	449	16	5	439	5	GLCE	15	69548582	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	310210	69548582	32982810	2934	80752											
LARP6	55323	broad.mit.edu	37	chr15	71125077	71125077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggctgcttccacctcctCgaactccacgatggcgcact	7	9	9	16	3	0	0	0	0	0	0	4	3	3	0	4	2	2	3	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:71125077C>T	ENST00000299213.8	-	3	860	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	264					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCACCTCCTCGAACTCCACG	0.562													17	56					0	0	0	0	T	71125077	C	T	71125077	3	4	408	1	0	0	0	0	1	0	0	0	8685	893	31	1	689	1	LARP6	15	71125077	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1576495	71125077	31406315	2935	80753											
MYO9A	4649	broad.mit.edu	37	chr15	72189934	72189934	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttgaaatgcgattatttGagagtttacaggctacattc	11	17	8	5	1	0	2	0	2	0	1	1	4	0	2	0	1	3	2	0	1	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:72189934G>C	ENST00000356056.5	-	25	5382	c.4910C>G	c.(4909-4911)tCa>tGa	p.S1637*	MYO9A_ENST00000424560.1_Nonsense_Mutation_p.S1637*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.S1618*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.S1257*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.S1637*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1637	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCGATTATTTGAGAGTTTACA	0.418													19	76					0	0	0	0	C	72189934	G	C	72189934	4	2	408	1	0	0	0	0	0	1	0	0	10154	1294	45	2	2808	2	MYO9A	15	72189934	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1064857	72189934	30341458	2936	80754											
NPTN	27020	broad.mit.edu	37	chr15	73889513	73889513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctcagcacactcacgcCgtttgacccgtaggcggtgt	7	11	10	13	4	2	1	2	1	1	0	3	1	2	1	2	2	1	3	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:73889513C>T	ENST00000345330.4	-	2	486	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	NPTN_ENST00000545878.1_Missense_Mutation_p.G97S|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.G97S|NPTN_ENST00000563691.1_Missense_Mutation_p.G97S	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	97	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding	p.G97S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						ACACTCACGCCGTTTGACCCG	0.582													17	82					0	0	0	0	T	73889513	C	T	73889513	3	4	408	1	0	0	0	0	1	0	0	0	10672	652	23	1	935	1	NPTN	15	73889513	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1699579	73889513	28641879	2937	80755											
ISLR	3671	broad.mit.edu	37	chr15	74467666	74467666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgctgcaactcaaccacaAccgcttgcacacattggccg	10	7	7	17	3	1	0	1	0	0	0	2	0	1	0	3	1	5	4	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:74467666A>G	ENST00000249842.3	+	2	824	c.467A>G	c.(466-468)aAc>aGc	p.N156S	ISLR_ENST00000395118.1_Missense_Mutation_p.N156S|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	156					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTCAACCACAACCGCTTGCAC	0.632													19	46					0	0	0	0	G	74467666	A	G	74467666	3	3	408	1	0	0	0	0	1	0	0	0	7911	43	2	5	469	5	ISLR	15	74467666	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	578153	74467666	28063726	2938	80756											
SEMA7A	8482	broad.mit.edu	37	chr15	74703101	74703101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagtgctgagcctcgCggaagtaggagccctcctgg	6	7	15	13	2	0	1	0	1	0	0	2	3	1	3	4	3	4	3	4	3	2	1	rs140128092		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:74703101C>T	ENST00000261918.4	-	14	2413	c.1865G>A	c.(1864-1866)cGc>cAc	p.R622H	SEMA7A_ENST00000543145.2_Missense_Mutation_p.R608H|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R457H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	622	Ig-like C2-type.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTGAGCCTCGCGGAAGTAGGA	0.667													9	54					0	0	0	0	T	74703101	C	T	74703101	3	4	408	1	0	0	0	0	1	0	0	0	14130	768	27	1	139	1	SEMA7A	15	74703101	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	235435	74703101	27828291	2939	80757											
SEMA7A	8482	broad.mit.edu	37	chr15	74704350	74704350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgtggatagtgcccCtgtctgtgtatggtggacag	6	12	13	10	0	1	0	0	0	1	0	1	2	1	2	4	3	1	1	4	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:74704350C>A	ENST00000261918.4	-	11	1846	c.1298G>T	c.(1297-1299)aGg>aTg	p.R433M	SEMA7A_ENST00000543145.2_Missense_Mutation_p.R419M|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R268M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	433	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GATAGTGCCCCTGTCTGTGTA	0.637													13	73					4.36969e-10	4.52622e-10	1	0	A	74704350	C	A	74704350	3	1	408	1	0	0	0	0	1	0	0	0	14130	681	24	4	718	4	SEMA7A	15	74704350	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1249	74704350	27827042	2940	80758											
EDC3	80153	broad.mit.edu	37	chr15	74963875	74963875	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatagctctttgagcactgTtgctgctgcggggaaacggc	8	10	13	10	2	1	1	0	1	1	0	1	2	1	2	0	3	6	5	0	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:74963875T>C	ENST00000315127.4	-	3	586	c.405A>G	c.(403-405)caA>caG	p.Q135Q	EDC3_ENST00000426797.3_Silent_p.Q135Q|EDC3_ENST00000568176.1_Silent_p.Q135Q	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	135					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGAGCACTGTTGCTGCTGCG	0.507													22	103					0	0	0	0	C	74963875	T	C	74963875	2	2	408	1	0	0	0	0	0	0	0	1	4943	1722	60	5		5	EDC3	15	74963875	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	259525	74963875	27567517	2941	80759											
CYP1A2	1544	broad.mit.edu	37	chr15	75047248	75047248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcatgggcaagcgccGgtgtatcggggaagtcctgg	6	9	18	8	3	0	0	0	0	0	0	2	1	1	1	2	6	1	4	2	6	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:75047248G>T	ENST00000343932.4	+	7	1433	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	457			R -> W (in dbSNP:rs34151816).		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGCAAGCGCCGGTGTATCGGG	0.597													41	104					1.67305e-13	1.74621e-13	1	0	T	75047248	G	T	75047248	3	4	408	1	0	0	0	0	1	0	0	0	4182	1116	39	3	1392	3	CYP1A2	15	75047248	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	83373	75047248	27484144	2942	80760											
C15orf39	56905	broad.mit.edu	37	chr15	75501025	75501025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcggcccaccacgctgtCggaggagcgggcactgcggg	5	4	18	14	5	0	0	0	0	0	0	1	2	0	2	2	5	3	3	2	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:75501025C>T	ENST00000360639.2	+	2	2956	c.2636C>T	c.(2635-2637)tCg>tTg	p.S879L	C15orf39_ENST00000394987.4_Missense_Mutation_p.S879L|C15orf39_ENST00000567617.1_Missense_Mutation_p.S879L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	879										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCACGCTGTCGGAGGAGCGG	0.657													6	16					0	0	0	0	T	75501025	C	T	75501025	3	4	408	1	0	0	0	0	1	0	0	0	1805	893	31	1	2638	1	C15orf39	15	75501025	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	453777	75501025	27030367	2943	80761											
MAN2C1	4123	broad.mit.edu	37	chr15	75658881	75658881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttcgggggtctctttccCccagcctgtcagtcaggaca	6	10	10	15	1	3	0	2	0	1	0	6	1	4	1	4	3	1	0	4	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:75658881C>A	ENST00000565683.1	-	4	415	c.404G>T	c.(403-405)gGg>gTg	p.G135V	MAN2C1_ENST00000569482.1_Missense_Mutation_p.G135V|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Missense_Mutation_p.G135V|MAN2C1_ENST00000267978.5_Missense_Mutation_p.G135V	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	135					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GTCTCTTTCCCCCAGCCTGTC	0.572													6	28					3.59834e-05	3.66827e-05	1	0	A	75658881	C	A	75658881	3	1	408	1	0	0	0	0	1	0	0	0	9287	623	22	4	2810	4	MAN2C1	15	75658881	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	157856	75658881	26872511	2944	80762											
ETFA	2108	broad.mit.edu	37	chr15	76580213	76580213	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagttctcacaaatgtgTcaggtgacttgattgcaatg	13	13	9	6	0	2	2	2	2	1	0	3	2	2	2	0	1	1	2	0	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:76580213T>G	ENST00000557943.1	-	5	505	c.425A>C	c.(424-426)gAc>gCc	p.D142A	ETFA_ENST00000433983.2_Missense_Mutation_p.D93A|ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Missense_Mutation_p.D38A	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	142					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CACAAATGTGTCAGGTGACTT	0.353													20	44					0	0	0	0	G	76580213	T	G	76580213	3	3	408	1	0	0	0	0	1	0	0	0	5307	1667	58	5	608	5	ETFA	15	76580213	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	921332	76580213	25951179	2945	80763											
ISL2	64843	broad.mit.edu	37	chr15	76632620	76632620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctgtcctggcagacgCtgggtcgggccggcagcccg	4	6	15	16	4	1	1	1	0	0	1	3	1	2	1	4	4	1	3	4	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:76632620C>T	ENST00000290759.4	+	4	675	c.515C>T	c.(514-516)gCt>gTt	p.A172V	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CTGGCAGACGCTGGGTCGGGC	0.716													5	17					0	0	0	0	T	76632620	C	T	76632620	3	4	408	1	0	0	0	0	1	0	0	0	7910	797	28	4	529	4	ISL2	15	76632620	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	52407	76632620	25898772	2946	80764											
ISL2	64843	broad.mit.edu	37	chr15	76633580	76633580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacgtaccagccgccgTggaaggcgctcagcgagttt	8	7	14	12	5	1	1	1	0	0	1	1	3	1	2	3	2	4	4	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:76633580T>C	ENST00000290759.4	+	5	1061	c.901T>C	c.(901-903)Tgg>Cgg	p.W301R	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCAGCCGCCGTGGAAGGCGCT	0.687													6	18					0	0	0	0	C	76633580	T	C	76633580	3	2	408	1	0	0	0	0	1	0	0	0	7910	1696	59	5	919	5	ISL2	15	76633580	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	960	76633580	25897812	2947	80765											
LINGO1	84894	broad.mit.edu	37	chr15	77907860	77907860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcgggatgagcttcaggCggttgctgcggagacccagc	7	7	16	11	3	1	2	1	1	0	1	1	4	1	3	1	4	5	3	1	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:77907860C>T	ENST00000355300.6	-	2	563	c.389G>A	c.(388-390)cGc>cAc	p.R130H	LINGO1_ENST00000561030.1_Missense_Mutation_p.R124H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	130					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGCTTCAGGCGGTTGCTGCG	0.582													17	31					0	0	0	0	T	77907860	C	T	77907860	3	4	408	1	0	0	0	0	1	0	0	0	8869	768	27	1	1477	1	LINGO1	15	77907860	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1274280	77907860	24623532	2948	80766											
CHRNA3	1136	broad.mit.edu	37	chr15	78893979	78893979	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatgagggcattgtgtgTgtcgtcggggttctgtagtg	5	13	16	7	2	1	1	0	1	1	0	3	1	1	1	1	3	0	3	1	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:78893979T>C	ENST00000326828.5	-	5	1389	c.1005A>G	c.(1003-1005)acA>acG	p.T335T	CHRNA3_ENST00000348639.3_Silent_p.T335T	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	335					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCATTGTGTGTGTCGTCGGGG	0.522													43	112					0	0	0	0	C	78893979	T	C	78893979	2	2	408	1	0	0	0	0	0	0	0	1	3413	1683	59	5		5	CHRNA3	15	78893979	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	986119	78893979	23637413	2949	80767											
MORF4L1	10933	broad.mit.edu	37	chr15	79186493	79186493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataaatttgagagaccacaGtatgctgaaattcttgcaga	15	12	8	6	0	1	4	0	2	1	2	1	5	1	4	1	0	2	3	1	0	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:79186493G>A	ENST00000331268.5	+	11	1044	c.840G>A	c.(838-840)caG>caA	p.Q280Q	MORF4L1_ENST00000559345.1_Silent_p.Q153Q|MORF4L1_ENST00000558746.1_Silent_p.Q214Q|MORF4L1_ENST00000558502.1_Silent_p.Q153Q|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000426013.2_Silent_p.Q241Q|MORF4L1_ENST00000379535.4_Silent_p.Q266Q	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	280	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGAGACCACAGTATGCTGAAA	0.418													59	124					0	0	0	0	A	79186493	G	A	79186493	2	1	408	1	0	0	0	0	0	0	0	1	9776	1020	36	4		4	MORF4L1	15	79186493	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	292514	79186493	23344899	2950	80768											
KIAA1199	57214	broad.mit.edu	37	chr15	81201475	81201475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacacttggagggcaCggagctgaagcatatgggac	11	5	16	9	1	0	1	0	1	0	0	0	4	0	4	0	5	3	5	0	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:81201475C>T	ENST00000394685.3	+	14	2044	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.T542M|RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T542M			Q8WUJ3	K1199_HUMAN	KIAA1199	542										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGAGGGCACGGAGCTGAAG	0.552													10	46					0	0	0	0	T	81201475	C	T	81201475	3	4	408	1	0	0	0	0	1	0	0	0	8264	536	19	1	1671	1	KIAA1199	15	81201475	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2014982	81201475	21329917	2951	80769											
KIAA1199	57214	broad.mit.edu	37	chr15	81229133	81229133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcacccattaccagcaatAccaaccggttgtcaccctgc	11	7	7	16	1	1	0	1	0	0	0	1	1	1	0	5	1	6	3	5	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:81229133A>G	ENST00000394685.3	+	24	3547	c.3128A>G	c.(3127-3129)tAc>tGc	p.Y1043C	KIAA1199_ENST00000220244.3_Missense_Mutation_p.Y1043C|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.Y1043C			Q8WUJ3	K1199_HUMAN	KIAA1199	1043										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TACCAGCAATACCAACCGGTT	0.562													46	101					0	0	0	0	G	81229133	A	G	81229133	3	3	408	1	0	0	0	0	1	0	0	0	8264	391	14	5	3214	5	KIAA1199	15	81229133	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	27658	81229133	21302259	2952	80770											
TMC3	342125	broad.mit.edu	37	chr15	81654580	81654580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcgattttctttatcctCatttcccagggaatgaagat	9	16	6	10	1	3	2	1	1	2	1	6	4	5	3	2	1	0	0	2	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:81654580C>G	ENST00000558726.1	-	4	510	c.375G>C	c.(373-375)atG>atC	p.M125I	TMC3_ENST00000359440.5_Missense_Mutation_p.M125I			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	125						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCTTTATCCTCATTTCCCAGG	0.483													3	18					0	0	0	0	G	81654580	C	G	81654580	3	3	408	1	0	0	0	0	1	0	0	0	16080	826	29	2	3003	2	TMC3	15	81654580	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	425447	81654580	20876812	2953	80771											
FSD2	123722	broad.mit.edu	37	chr15	83455722	83455722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaagtcctggcactggcCtgctgagccccaccctccga	6	6	10	19	2	0	1	0	1	0	0	2	2	2	1	7	2	2	3	7	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:83455722C>A	ENST00000334574.8	-	2	602	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C	FSD2_ENST00000541889.1_Missense_Mutation_p.G141C			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	141										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGGCACTGGCCTGCTGAGCCC	0.602													22	92					1.55469e-16	1.63288e-16	1	0	A	83455722	C	A	83455722	3	1	408	1	0	0	0	0	1	0	0	0	6119	681	24	4	1876	4	FSD2	15	83455722	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1801142	83455722	19075670	2954	80772											
TM6SF1	53346	broad.mit.edu	37	chr15	83776522	83776525	+	Splice_Site	DEL	TGAG	TGAG	-																															aaccacctggcggcccagcaTgagtgagtgagccggcgcgg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:83776522_83776525delTGAG	ENST00000322019.9	+	1	364_366	c.92_splice	c.e1+1	p.Q30_splice	TM6SF1_ENST00000379390.6_Splice_Site_p.Q30_splice|TM6SF1_ENST00000379386.4_Splice_Site_p.Q30_splice|TM6SF1_ENST00000565774.1_Splice_Site_p.Q30_splice|TM6SF1_ENST00000564988.1_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	30						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGGCCCAGCATGAGTGAGTGAgcc	0.721													7	33	---	---	---	---					-	83776525	TGAG	-	83776522	8	5	408	1	0	1	0	1	0	0	1	0	16066	1461	51	0	92	0	TM6SF1	15	83776522	Splice_Site	DEL	TGAG	TCGA-F7-A624-01A-22D-A30E-08	320800	83776522	18754870	2955	80773											
ZNF592	9640	broad.mit.edu	37	chr15	85327800	85327800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcaacaagtgcagcCtgctccggcacgcccgtgac	7	9	9	16	3	3	1	1	1	2	0	4	1	4	1	3	1	4	3	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:85327800C>A	ENST00000299927.3	+	1	1916	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	ZNF592_ENST00000560079.2_Missense_Mutation_p.L632M			Q92610	ZN592_HUMAN	zinc finger protein 592	632					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGTGCAGCCTGCTCCGGCA	0.592													28	81					3.1745e-13	3.31178e-13	1	0	A	85327800	C	A	85327800	3	1	408	1	0	0	0	0	1	0	0	0	18117	680	24	4	1896	4	ZNF592	15	85327800	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1551278	85327800	17203592	2956	80774											
ALPK3	57538	broad.mit.edu	37	chr15	85400612	85400612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagctagcccaaaggcGgggccgtgtagcaccccgac	9	4	13	15	3	0	1	0	1	0	0	0	2	0	1	4	3	3	3	4	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:85400612G>A	ENST00000258888.5	+	6	3416	c.3249G>A	c.(3247-3249)gcG>gcA	p.A1083A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1083					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCAAAGGCGGGGCCGTGTA	0.617													19	56					0	0	0	0	A	85400612	G	A	85400612	2	1	408	1	0	0	0	0	0	0	0	1	546	1103	39	1		1	ALPK3	15	85400612	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	72812	85400612	17130780	2957	80775											
ALPK3	57538	broad.mit.edu	37	chr15	85401778	85401778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggaaagccaaagaccTgctgaaaggtgagcagtggg	13	4	15	9	0	0	3	0	2	0	1	0	4	0	4	3	3	3	2	3	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:85401778T>C	ENST00000258888.5	+	6	4582	c.4415T>C	c.(4414-4416)cTg>cCg	p.L1472P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1472					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCAAAGACCTGCTGAAAGGT	0.617													5	18					0	0	0	0	C	85401778	T	C	85401778	3	2	408	1	0	0	0	0	1	0	0	0	546	1580	55	5	4437	5	ALPK3	15	85401778	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1166	85401778	17129614	2958	80776											
AKAP13	11214	broad.mit.edu	37	chr15	86265261	86265261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgtttaaagaagacatatGgcaagttttgtgggcaacat	15	11	10	5	1	0	2	0	0	0	2	0	2	0	2	0	2	2	4	0	2	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:86265261G>A	ENST00000394518.2	+	24	6387	c.6292G>A	c.(6292-6294)Ggc>Agc	p.G2098S	AKAP13_ENST00000394510.2_Missense_Mutation_p.G343S|AKAP13_ENST00000361243.2_Missense_Mutation_p.G2102S|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2098	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAAGACATATGGCAAGTTTTG	0.383													6	100					0	0	0	0	A	86265261	G	A	86265261	3	1	408	1	0	0	0	0	1	0	0	0	449	1348	47	4	6452	4	AKAP13	15	86265261	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	863483	86265261	16266131	2959	80777											
AGBL1	123624	broad.mit.edu	37	chr15	86697774	86697774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccactgtctctgggctctgCgtgtgtttgcctccagtggt	2	15	12	12	1	2	0	0	0	2	0	5	0	4	0	3	2	2	2	3	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:86697774C>T	ENST00000441037.2	+	3	333	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	AGBL1_ENST00000421325.2_Missense_Mutation_p.R80C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTGGGCTCTGCGTGTGTTTGC	0.537													8	27					0	0	0	0	T	86697774	C	T	86697774	3	4	408	1	0	0	0	0	1	0	0	0	375	768	27	1	244	1	AGBL1	15	86697774	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	432513	86697774	15833618	2960	80778											
AGBL1	123624	broad.mit.edu	37	chr15	86806031	86806031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacttggaaacagacgTgaacaagctgagttccaaac	15	8	10	8	1	0	5	0	4	0	1	1	6	1	6	1	1	4	2	1	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:86806031T>C	ENST00000441037.2	+	9	949	c.854T>C	c.(853-855)gTg>gCg	p.V285A	AGBL1_ENST00000421325.2_Missense_Mutation_p.V285A|AGBL1_ENST00000389298.3_Missense_Mutation_p.V16A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	285					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAAACAGACGTGAACAAGCTG	0.433													4	19					0	0	0	0	C	86806031	T	C	86806031	3	2	408	1	0	0	0	0	1	0	0	0	375	1696	59	5	884	5	AGBL1	15	86806031	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	108257	86806031	15725361	2961	80779											
NTRK3	4916	broad.mit.edu	37	chr15	88678452	88678452	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgttgaagagcaggcAgccctcggaaatctctccct	8	9	12	12	1	1	2	0	1	1	1	4	3	2	3	2	3	2	4	2	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:88678452A>T	ENST00000394480.1	-	10	1405	c.1084T>A	c.(1084-1086)Tgc>Agc	p.C362S	NTRK3_ENST00000357724.2_Missense_Mutation_p.C362S|NTRK3_ENST00000317501.3_Missense_Mutation_p.C362S|NTRK3_ENST00000360948.2_Missense_Mutation_p.C362S|NTRK3_ENST00000557856.1_Missense_Mutation_p.C362S|NTRK3_ENST00000558676.1_Missense_Mutation_p.C362S|NTRK3_ENST00000542733.2_Missense_Mutation_p.C264S|NTRK3_ENST00000355254.2_Missense_Mutation_p.C362S|NTRK3_ENST00000540489.2_Missense_Mutation_p.C362S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	362	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAGCAGGCAGCCCTCGGAA	0.552			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			22	120					0	0	0	0	T	88678452	A	T	88678452	3	4	408	1	0	0	0	0	1	0	0	0	10779	188	7	5	1741	5	NTRK3	15	88678452	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1872421	88678452	13852940	2962	80780											
DET1	55070	broad.mit.edu	37	chr15	89073994	89073994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaagaagcgcctcttggCcattgcactaccatcctgtt	8	11	9	13	1	1	1	0	0	1	1	2	2	2	2	4	2	3	2	4	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:89073994C>T	ENST00000564406.1	-	3	1136	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	DET1_ENST00000444300.1_Missense_Mutation_p.A326T|DET1_ENST00000268148.8_Missense_Mutation_p.A315T	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	315						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CGCCTCTTGGCCATTGCACTA	0.493													6	27					0	0	0	0	T	89073994	C	T	89073994	3	4	408	1	0	0	0	0	1	0	0	0	4487	739	26	4	725	4	DET1	15	89073994	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	395542	89073994	13457398	2963	80781											
ACAN	176	broad.mit.edu	37	chr15	89402512	89402512	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagcgccctgcagagacGcatctagaaattgagtcctc	11	7	9	14	2	1	3	0	1	1	2	3	4	2	3	3	0	2	2	3	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:89402512G>A	ENST00000439576.2	+	12	7070	c.6696G>A	c.(6694-6696)acG>acA	p.T2232T	ACAN_ENST00000559004.1_Silent_p.T2232T|ACAN_ENST00000561243.1_Silent_p.T2232T|ACAN_ENST00000352105.7_Silent_p.T2232T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2232					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCAGAGACGCATCTAGAAA	0.577													18	24					0	0	0	0	A	89402512	G	A	89402512	2	1	408	1	0	0	0	0	0	0	0	1	117	1074	38	1		1	ACAN	15	89402512	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	328518	89402512	13128880	2964	80782											
KIF7	374654	broad.mit.edu	37	chr15	90190140	90190140	+	Frame_Shift_Del	DEL	C	C	-																															ccagcacatgggcgtgggcaCcccccaggggggctgtatga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90190140delC	ENST00000394412.3	-	7	1785	c.1709delG	c.(1708-1710)gtfs	p.G570fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	570					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGCGTGGGCACCCCCCAGGGG	0.687											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	67	---	---	---	---					-	90190140	C	-	90190140	7	5	408	1	0	1	0	1	0	0	0	0	8360	507	18	0	2374	0	KIF7	15	90190140	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	787628	90190140	12341252	2965	80783											
KIF7	374654	broad.mit.edu	37	chr15	90190254	90190254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccgcagccgcagttccAccatctcctcctgctgctca	7	9	6	19	2	2	0	1	0	1	0	5	0	4	0	6	0	4	5	6	0	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90190254A>G	ENST00000394412.3	-	7	1671	c.1595T>C	c.(1594-1596)gTg>gCg	p.V532A		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	532					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCGCAGTTCCACCATCTCCTC	0.652											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	22					0	0	0	0	G	90190254	A	G	90190254	3	3	408	1	0	0	0	0	1	0	0	0	8360	159	6	5	2488	5	KIF7	15	90190254	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	114	90190254	12341138	2966	80784											
MESP2	145873	broad.mit.edu	37	chr15	90320301	90320301	+	Frame_Shift_Del	DEL	G	G	-																															cgcacccgagcgcctggggaGgggggtccacgacacggatc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90320301delG	ENST00000341735.3	+	1	713	c.713delG	c.(712-714)agfs	p.R238fs	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	238					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CGCCTGGGGAGGGGGGTCCAC	0.716													16	25	---	---	---	---					-	90320301	G	-	90320301	7	5	408	1	0	1	0	1	0	0	0	0	9552	1000	35	0	715	0	MESP2	15	90320301	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	130047	90320301	12211091	2967	80785											
ANPEP	290	broad.mit.edu	37	chr15	90346715	90346715	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggacaggaagctggaGagcatcctgaggactgaggc	10	6	15	10	1	0	3	0	2	0	1	3	7	2	6	2	5	2	2	2	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90346715G>T	ENST00000300060.6	-	9	1774	c.1461C>A	c.(1459-1461)ctC>ctA	p.L487L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	487	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ggaagctGGAGAGCATCCTGA	0.667													6	11					5.9392e-07	6.09457e-07	1	0	T	90346715	G	T	90346715	2	4	408	1	0	0	0	0	0	0	0	1	709	929	33	2		2	ANPEP	15	90346715	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	26414	90346715	12184677	2968	80786											
BLM	641	broad.mit.edu	37	chr15	91303895	91303895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcattgtggagatacaGgcctgattcacttgatggcc	8	12	12	9	0	2	3	2	2	0	1	2	4	2	3	2	4	1	1	2	4	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:91303895G>A	ENST00000355112.3	+	7	1410	c.1292G>A	c.(1291-1293)aGg>aAg	p.R431K	BLM_ENST00000560509.1_Missense_Mutation_p.R431K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	431					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGGAGATACAGGCCTGATTCA	0.403			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				29	154					0	0	0	0	A	91303895	G	A	91303895	3	1	408	1	0	0	0	0	1	0	0	0	1450	1000	35	4	1314	4	BLM	15	91303895	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	957180	91303895	11227497	2969	80787											
PRC1	9055	broad.mit.edu	37	chr15	91512855	91512855	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggaagcagcgactggcTgcagagaaaggaaagagatc	15	4	16	6	1	0	2	0	0	0	2	1	7	0	4	0	4	3	3	0	4	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:91512855T>C	ENST00000361188.5	-	13	2784		c.e13-2		PRC1_ENST00000394249.3_Splice_Site|PRC1_ENST00000361919.3_Splice_Site|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000442656.2_Splice_Site|PRC1-AS1_ENST00000554388.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1						cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGCGACTGGCTGCAGAGAAAG	0.502													6	88					0	0	0	0	C	91512855	T	C	91512855	5	2	408	1	0	0	0	0	0	0	1	0	12526	1594	55	5	303	5	PRC1	15	91512855	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	208960	91512855	11018537	2970	80788											
PRC1	9055	broad.mit.edu	37	chr15	91522491	91522491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccgcacaatctcagcaTcgtggagctggagcagactt	11	9	10	11	2	1	1	1	0	1	1	3	3	1	3	1	2	4	4	1	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:91522491T>C	ENST00000361188.5	-	8	2215	c.1004A>G	c.(1003-1005)gAt>gGt	p.D335G	PRC1_ENST00000394249.3_Missense_Mutation_p.D335G|PRC1_ENST00000361919.3_Missense_Mutation_p.D335G|PRC1_ENST00000442656.2_Missense_Mutation_p.D294G|PRC1-AS1_ENST00000554388.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	335	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AATCTCAGCATCGTGGAGCTG	0.403													25	72					0	0	0	0	C	91522491	T	C	91522491	3	2	408	1	0	0	0	0	1	0	0	0	12526	1435	50	5	890	5	PRC1	15	91522491	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9636	91522491	11008901	2971	80789											
CHD2	1106	broad.mit.edu	37	chr15	93521521	93521521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatcaatttggcttcaGcggacacagtcgtcatcttt	9	13	10	9	2	4	0	3	0	1	0	5	2	4	2	0	3	1	1	0	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:93521521G>A	ENST00000394196.4	+	21	3703	c.2635G>A	c.(2635-2637)Gcg>Acg	p.A879T	CHD2_ENST00000557381.1_Missense_Mutation_p.A879T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	879	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTGGCTTCAGCGGACACAGT	0.493													25	75					0	0	0	0	A	93521521	G	A	93521521	3	1	408	1	0	0	0	0	1	0	0	0	3354	971	34	4	2717	4	CHD2	15	93521521	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1999030	93521521	9009871	2972	80790											
CHD2	1106	broad.mit.edu	37	chr15	93567810	93567810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgcagtctcagatcctCgctcacccccttctcagaaa	9	9	5	18	1	3	2	3	0	2	2	7	2	4	2	4	0	1	2	4	0	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:93567810C>T	ENST00000394196.4	+	39	6430	c.5362C>T	c.(5362-5364)Cgc>Tgc	p.R1788C		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1788					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTCAGATCCTCGCTCACCCCC	0.502													4	74					0	0	0	0	T	93567810	C	T	93567810	3	4	408	1	0	0	0	0	1	0	0	0	3354	884	31	1	5516	1	CHD2	15	93567810	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	46289	93567810	8963582	2973	80791											
IGF1R	3480	broad.mit.edu	37	chr15	99472871	99472871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggttggtgattatgctgtAcgtcttccatagaaagaggt	10	13	13	5	1	1	3	0	1	1	2	2	3	2	3	1	3	2	3	1	3	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:99472871A>G	ENST00000268035.6	+	14	3478	c.2867A>G	c.(2866-2868)tAc>tGc	p.Y956C	IGF1R_ENST00000558762.1_Missense_Mutation_p.Y955C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	956					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATTATGCTGTACGTCTTCCAT	0.448													18	75					0	0	0	0	G	99472871	A	G	99472871	3	3	408	1	0	0	0	0	1	0	0	0	7624	391	14	5	2921	5	IGF1R	15	99472871	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5905061	99472871	3058521	2974	80792											
TTC23	64927	broad.mit.edu	37	chr15	99678261	99678261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccccagcagggtgtccTgagggatgctggtgcagaag	7	8	15	11	0	0	2	0	1	0	1	2	3	2	3	4	3	3	3	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:99678261T>C	ENST00000394132.2	-	14	2115	c.1298A>G	c.(1297-1299)cAg>cGg	p.Q433R	TTC23_ENST00000262074.4_Missense_Mutation_p.Q433R|TTC23_ENST00000394136.1_Missense_Mutation_p.Q433R|TTC23_ENST00000394135.3_Missense_Mutation_p.Q433R|TTC23_ENST00000558663.1_Missense_Mutation_p.Q433R|TTC23_ENST00000558613.1_Missense_Mutation_p.Q433R			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	433							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAGGGTGTCCTGAGGGATGCT	0.612													12	50					0	0	0	0	C	99678261	T	C	99678261	3	2	408	1	0	0	0	0	1	0	0	0	16786	1580	55	5	49	5	TTC23	15	99678261	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	205390	99678261	2853131	2975	80793											
LYSMD4	145748	broad.mit.edu	37	chr15	100272104	100272104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaagagtcccccgagTccccactgccattcttaaac	10	9	6	16	1	2	2	1	0	1	2	4	3	4	2	5	0	2	0	5	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:100272104T>C	ENST00000344791.2	-	3	285	c.13A>G	c.(13-15)Act>Gct	p.T5A	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.D34G|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000409796.1_Missense_Mutation_p.D34G	NM_152449.2	NP_689662.2	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	0					cell wall macromolecule catabolic process	integral to membrane				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)			GTCCCCCGAGTCCCCACTGCC	0.587													7	30					0	0	0	0	C	100272104	T	C	100272104	3	2	408	1	0	0	0	0	1	0	0	0	9192	1667	58	5	896	5	LYSMD4	15	100272104	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	593843	100272104	2259288	2976	80794											
LRRK1	79705	broad.mit.edu	37	chr15	101523854	101523854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacccagccgtggtggcagCgtattttggacacacggcag	9	7	13	12	3	0	0	0	0	0	0	0	1	0	1	2	4	3	3	2	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:101523854C>T	ENST00000284395.5	+	4	702	c.302C>T	c.(301-303)gCg>gTg	p.A101V	LRRK1_ENST00000388948.3_Missense_Mutation_p.A128V|LRRK1_ENST00000532029.2_Missense_Mutation_p.A128V			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	128					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGGTGGCAGCGTATTTTGGA	0.567													15	76					0	0	0	0	T	101523854	C	T	101523854	3	4	408	1	0	0	0	0	1	0	0	0	9096	768	27	1	393	1	LRRK1	15	101523854	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1251750	101523854	1007538	2977	80795											
TARSL2	123283	broad.mit.edu	37	chr15	102197157	102197157	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatactgagccagctgtgcaTttcgtattttcttatttagt	8	19	7	7	1	1	1	0	1	1	0	2	1	1	1	1	0	4	3	1	0	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:102197157T>C	ENST00000335968.3	-	18	2444	c.2228A>G	c.(2227-2229)aAt>aGt	p.N743S	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	743					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCTGTGCATTTCGTATTTT	0.308													4	29					0	0	0	0	C	102197157	T	C	102197157	3	2	408	1	0	0	0	0	1	0	0	0	15652	1493	52	5	188	5	TARSL2	15	102197157	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	673303	102197157	334235	2978	80796											
RHBDF1	64285	broad.mit.edu	37	chr16	108407	108407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggggatgcaggtgaggaActcacaccactcacagcgga	13	4	14	10	1	2	1	2	1	0	0	2	5	2	4	1	5	3	1	1	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:108407A>G	ENST00000262316.6	-	18	2642	c.2500T>C	c.(2500-2502)Ttc>Ctc	p.F834L		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	834					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGGTGAGGAACTCACACCAC	0.592													16	214					0	0	0	0	G	108407	A	G	108407	3	3	408	1	0	0	0	0	1	0	0	0	13402	43	2	5	71	5	RHBDF1	16	108407	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08		108407	90246346	2979	80797											
LUC7L	55692	broad.mit.edu	37	chr16	249183	249183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaacagacctcgcagaCacgcagcttttgctgctgaa	10	8	11	12	2	0	4	0	2	0	2	1	4	0	4	1	1	4	6	1	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:249183C>T	ENST00000337351.4	-	6	688	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	LUC7L_ENST00000397780.1_Missense_Mutation_p.V136I|LUC7L_ENST00000397783.1_Missense_Mutation_p.V189I|LUC7L_ENST00000293872.8_Missense_Mutation_p.V189I	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	189							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				ACCTCGCAGACACGCAGCTTT	0.478													40	103					0	0	0	0	T	249183	C	T	249183	3	4	408	1	0	0	0	0	1	0	0	0	9146	478	17	4	574	4	LUC7L	16	249183	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	140776	249183	90105570	2980	80798											
AXIN1	8312	broad.mit.edu	37	chr16	396838	396838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accccaggtccagatccgagCgcctcggagtggccgtcgaa	8	5	13	15	5	0	1	0	0	0	1	4	4	2	2	6	3	1	0	6	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:396838C>T	ENST00000262320.3	-	2	559	c.188G>A	c.(187-189)cGc>cAc	p.R63H	AXIN1_ENST00000354866.3_Missense_Mutation_p.R63H|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	63					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGATCCGAGCGCCTCGGAGT	0.602											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	33					0	0	0	0	T	396838	C	T	396838	3	4	408	1	0	0	0	0	1	0	0	0	1240	768	27	1	2440	1	AXIN1	16	396838	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	147655	396838	89957915	2981	80799											
NME4	4833	broad.mit.edu	37	chr16	450236	450236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaatgtcatccacgccaGcgactccgtggagggggccc	8	5	14	14	3	1	0	1	0	0	0	3	3	3	2	4	4	1	0	4	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:450236G>A	ENST00000397722.1	+	5	722	c.248G>A	c.(247-249)aGc>aAc	p.S83N	NME4_ENST00000382940.4_Missense_Mutation_p.S161N|NME4_ENST00000450036.1_Missense_Mutation_p.S83N|NME4_ENST00000219479.2_Missense_Mutation_p.S153N			O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	153					CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				ATCCACGCCAGCGACTCCGTG	0.637													37	104					0	0	0	0	A	450236	G	A	450236	3	1	408	1	0	0	0	0	1	0	0	0	10563	971	34	4	476	4	NME4	16	450236	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	53398	450236	89904517	2982	80800											
DECR2	26063	broad.mit.edu	37	chr16	460246	460246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcccattctgcaggtgCggccgggaacttcctgtgcc	4	10	13	14	2	2	0	0	0	2	0	4	1	3	1	4	4	4	1	4	4	1	2	rs141151070	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:460246C>T	ENST00000219481.5	+	5	479	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000397710.1_Silent_p.C176C|DECR2_ENST00000424398.2_Missense_Mutation_p.A102V	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	114						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCTGCAGGTGCGGCCGGGAAC	0.642													6	21					0	0	0	0	T	460246	C	T	460246	3	4	408	1	0	0	0	0	1	0	0	0	4415	768	27	1	359	1	DECR2	16	460246	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	10010	460246	89894507	2983	80801											
RAB11FIP3	9727	broad.mit.edu	37	chr16	570491	570491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggagcagaacgaggaGctgaacgggcagatcattac	14	5	14	8	2	1	4	1	2	0	2	1	7	1	6	0	3	5	3	0	3	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:570491G>A	ENST00000262305.4	+	13	2437	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	RAB11FIP3_ENST00000450428.1_Silent_p.E387E|RAB11FIP3_ENST00000457159.1_Silent_p.E728E	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	683					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGAACGAGGAGCTGAACGGGC	0.602													5	115					0	0	0	0	A	570491	G	A	570491	2	1	408	1	0	0	0	0	0	0	0	1	12977	962	34	4		4	RAB11FIP3	16	570491	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	110245	570491	89784262	2984	80802											
WFIKKN1	117166	broad.mit.edu	37	chr16	683135	683135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatggcaacgtggtggTcaccagcatcgggcagctgg	8	8	16	9	2	1	0	1	0	0	0	2	1	1	0	1	5	3	5	1	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:683135T>C	ENST00000319070.2	+	2	1047	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	242	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AACGTGGTGGTCACCAGCATC	0.667													17	29					0	0	0	0	C	683135	T	C	683135	3	2	408	1	0	0	0	0	1	0	0	0	17454	1667	58	5	731	5	WFIKKN1	16	683135	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	112644	683135	89671618	2985	80803											
CCDC78	124093	broad.mit.edu	37	chr16	774145	774145	+	Silent	SNP	G	G	T																															aagtcagtgaccaggggcacGggcaatggttccaggtccaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:774145G>T	ENST00000293889.6	-	10	1119	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	338										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGGGGCACGGGCAATGGTT	0.637													21	86					1.55795e-14	1.62985e-14	1	0	T	774145	G	T	774145	2	4	408	1	0	0	0	0	0	0	0	1	2879	1103	39	3		3	CCDC78	16	774145	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	91010	774145	89580608	2986	80804	1045	2									
CCDC78	124093	broad.mit.edu	37	chr16	774151	774151	+	Silent	SNP	T	T	C																															gtgaccaggggcacgggcaaTggttccaggtccaagctggc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:774151T>C	ENST00000293889.6	-	10	1113	c.1008A>G	c.(1006-1008)ccA>ccG	p.P336P		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	336										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GCACGGGCAATGGTTCCAGGT	0.627													32	68					0	0	0	0	C	774151	T	C	774151	2	2	408	1	0	0	0	0	0	0	0	1	2879	1451	51	5		5	CCDC78	16	774151	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	6	774151	89580602	2987	80805	1045	2									
CCDC78	124093	broad.mit.edu	37	chr16	775077	775077	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgagatggccactcaCacacgcgtcaccagtgcctg	9	6	11	15	2	2	1	2	1	0	1	2	2	2	1	4	2	1	0	4	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:775077C>T	ENST00000293889.6	-	6	666		c.e6+1			NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78											central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TGGCCACTCACACACGCGTCA	0.667													31	111					0	0	0	0	T	775077	C	T	775077	5	4	408	1	0	0	0	0	0	0	1	0	2879	492	17	4	791	4	CCDC78	16	775077	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	926	775077	89579676	2988	80806											
NARFL	64428	broad.mit.edu	37	chr16	780544	780544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcctgaaccccaggcGcgtcctcgggcgcctcagcc	6	5	11	19	4	1	1	1	1	0	0	4	1	3	1	6	2	3	1	6	2	1	0	rs143166023		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:780544G>A	ENST00000540986.1	-	10	2433	c.998C>T	c.(997-999)gCg>gTg	p.A333V	NARFL_ENST00000568545.1_Missense_Mutation_p.A333V|NARFL_ENST00000251588.2_Missense_Mutation_p.A435V|NARFL_ENST00000562862.1_5'UTR			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	435					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AACCCCAGGCGCGTCCTCGGG	0.682													32	117					0	0	0	0	A	780544	G	A	780544	3	1	408	1	0	0	0	0	1	0	0	0	10238	1087	38	1	130	1	NARFL	16	780544	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5467	780544	89574209	2989	80807											
MSLN	10232	broad.mit.edu	37	chr16	815293	815293	+	Frame_Shift_Del	DEL	C	C	-																															cggctctgcagggcgggggaCccccctacgggtaagtgaag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:815293delC	ENST00000566549.1	+	8	1111	c.694delC	c.(694-696)ccfs	p.P233fs	MSLN_ENST00000563941.1_Frame_Shift_Del_p.P233fs|MSLN_ENST00000382862.3_Frame_Shift_Del_p.P233fs|MSLN_ENST00000545450.2_Frame_Shift_Del_p.P233fs			Q13421	MSLN_HUMAN	mesothelin	233					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGGCGGGGGACCCCCCTACGG	0.687													8	16	---	---	---	---					-	815293	C	-	815293	7	5	408	1	0	1	0	1	0	0	0	0	9951	507	18	0	720	0	MSLN	16	815293	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	34749	815293	89539460	2990	80808											
MSLNL	401827	broad.mit.edu	37	chr16	830419	830419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagtgtgcacgtgtaaGtgacagtgtgcacgggtagg	9	9	17	6	2	0	2	0	2	0	0	0	2	0	2	0	2	2	4	0	2	2	2	rs113763422		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:830419G>T	ENST00000293892.3	-	3	581	c.582C>A	c.(580-582)caC>caA	p.H194Q	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCACGTGTAAGTGACAGTGTG	0.592													6	159					3.59834e-05	3.66827e-05	1	0	T	830419	G	T	830419	3	4	408	1	0	0	0	0	1	0	0	0	9952	1020	36	4	2635	4	MSLNL	16	830419	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	15126	830419	89524334	2991	80809											
RPUSD1	113000	broad.mit.edu	37	chr16	836088	836088	+	Frame_Shift_Del	DEL	G	G	-																															gcggaggggctgcctggcctGgggcccctatcctcggggtc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:836088delG	ENST00000561734.1	-	5	1044	c.801delC	c.(799-801)ccfs	p.P267fs	RPUSD1_ENST00000567114.1_Frame_Shift_Del_p.P138fs|RPUSD1_ENST00000007264.2_Frame_Shift_Del_p.P267fs|RPUSD1_ENST00000565809.1_3'UTR			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	267	Pro-rich.				pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGCCTGGCCTGGGGCCCCTAT	0.731													21	40	---	---	---	---					-	836088	G	-	836088	7	5	408	1	0	1	0	1	0	0	0	0	13751	1335	47	0	141	0	RPUSD1	16	836088	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	5669	836088	89518665	2992	80810											
PTX4	390667	broad.mit.edu	37	chr16	1537432	1537432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcccttggagaggggcCgaggagtcctgtggggggcc	4	6	19	12	2	0	1	0	0	0	1	2	4	2	2	5	7	0	0	5	7	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:1537432C>T	ENST00000447419.2	-	2	706	c.681G>A	c.(679-681)tcG>tcA	p.S227S	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.S222S			Q96A99	PTX4_HUMAN	pentraxin 4, long	227						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGAGAGGGGCCGAGGAGTCCT	0.692													16	39					0	0	0	0	T	1537432	C	T	1537432	2	4	408	1	0	0	0	0	0	0	0	1	12905	639	23	1		1	PTX4	16	1537432	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	701344	1537432	88817321	2993	80811											
IFT140	9742	broad.mit.edu	37	chr16	1574554	1574554	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccccgggcccgtggtaccTtgcacaggcggatggcattc	6	7	13	15	3	0	0	0	0	0	0	1	1	0	1	4	5	2	3	4	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:1574554T>C	ENST00000426508.2	-	24	3503	c.3141_splice	c.e24+1	p.K1047_splice	IFT140_ENST00000361339.5_Splice_Site_p.K241_splice	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1047										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGTGGTACCTTGCACAGGCG	0.632													25	53					0	0	0	0	C	1574554	T	C	1574554	5	2	408	1	0	0	0	0	0	0	1	0	7609	1623	56	5	1280	5	IFT140	16	1574554	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	37122	1574554	88780199	2994	80812											
IGFALS	3483	broad.mit.edu	37	chr16	1841065	1841065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggccctggaagaggcGgtggggcaggtgcgtgagct	6	5	20	10	2	0	2	0	1	0	1	0	3	0	3	2	7	2	2	2	7	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:1841065G>A	ENST00000415638.3	-	2	1547	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	IGFALS_ENST00000215539.3_Missense_Mutation_p.R452C	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	452					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGGAAGAGGCGGTGGGGCAGG	0.706													12	23					0	0	0	0	A	1841065	G	A	1841065	3	1	408	1	0	0	0	0	1	0	0	0	7630	1116	39	1	467	1	IGFALS	16	1841065	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	266511	1841065	88513688	2995	80813											
IGFALS	3483	broad.mit.edu	37	chr16	1841424	1841424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccaggccctcaaagctgCgctcagccagctgccggatg	7	5	12	17	2	2	0	2	0	0	0	2	1	2	1	5	2	5	3	5	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:1841424C>T	ENST00000415638.3	-	2	1188	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	IGFALS_ENST00000215539.3_Missense_Mutation_p.R332H	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	332					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTCAAAGCTGCGCTCAGCCAG	0.667													9	25					0	0	0	0	T	1841424	C	T	1841424	3	4	408	1	0	0	0	0	1	0	0	0	7630	768	27	1	826	1	IGFALS	16	1841424	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	359	1841424	88513329	2996	80814											
PKD1	5310	broad.mit.edu	37	chr16	2140883	2140886	+	Splice_Site	DEL	ACCT	ACCT	-																															cgcccaccggcccagccctcAccttgaccaaaagcaggaag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2140883_2140886delACCT	ENST00000262304.4	-	43	12210_12212	c.12003_splice	c.e43+1	p.I4001_splice	PKD1_ENST00000423118.1_Splice_Site_p.I4000_splice	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4001					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCAGCCCTCACCTTGACCAAAAG	0.711													10	32	---	---	---	---					-	2140886	ACCT	-	2140883	8	5	408	1	0	1	0	1	0	0	1	0	12035	173	6	0	922	0	PKD1	16	2140883	Splice_Site	DEL	ACCT	TCGA-F7-A624-01A-22D-A30E-08	299459	2140883	88213870	2997	80815											
PKD1	5310	broad.mit.edu	37	chr16	2143020	2143020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctttgcagacggtaggcGtgcccatggcatgaggcatc	7	8	15	11	3	0	2	0	1	0	1	1	2	0	2	1	4	2	5	1	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2143020G>A	ENST00000262304.4	-	38	11299	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	PKD1_ENST00000423118.1_Silent_p.H3696H|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3697					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACGGTAGGCGTGCCCATGGC	0.642													49	148					0	0	0	0	A	2143020	G	A	2143020	2	1	408	1	0	0	0	0	0	0	0	1	12035	1136	40	1		1	PKD1	16	2143020	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2137	2143020	88211733	2998	80816											
PKD1	5310	broad.mit.edu	37	chr16	2164521	2164521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgggcacgtagaggcGgccgtcgcggggggcagggt	4	6	23	8	5	0	1	0	0	0	1	1	1	0	1	1	8	0	4	1	8	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2164521G>A	ENST00000262304.4	-	11	2711	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	PKD1_ENST00000423118.1_Missense_Mutation_p.R835C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	835					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGTAGAGGCGGCCGTCGCGG	0.692													11	19					0	0	0	0	A	2164521	G	A	2164521	3	1	408	1	0	0	0	0	1	0	0	0	12035	1116	39	1	10552	1	PKD1	16	2164521	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	21501	2164521	88190232	2999	80817											
E4F1	1877	broad.mit.edu	37	chr16	2285271	2285271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcaccaggctagcgccGgccaccagatcatcgtgcag	8	6	12	15	4	1	1	1	0	0	1	3	1	1	1	4	2	3	3	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2285271G>A	ENST00000301727.4	+	14	2101	c.2053G>A	c.(2053-2055)Ggc>Agc	p.G685S	E4F1_ENST00000565090.1_Missense_Mutation_p.G508S|E4F1_ENST00000564139.1_3'UTR	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	685					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GGCTAGCGCCGGCCACCAGAT	0.672													35	108					0	0	0	0	A	2285271	G	A	2285271	3	1	408	1	0	0	0	0	1	0	0	0	4910	1116	39	1	2107	1	E4F1	16	2285271	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	120750	2285271	88069482	3000	80818											
DNASE1L2	1775	broad.mit.edu	37	chr16	2287441	2287441	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggacgtcttcagccgcGagcccttcgtggtcaagttc	6	9	12	14	5	3	0	2	0	1	0	5	3	3	1	3	2	2	1	3	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2287441G>T	ENST00000564065.1	+	4	1383	c.382G>T	c.(382-384)Gag>Tag	p.E128*	DNASE1L2_ENST00000320700.5_Nonsense_Mutation_p.E128*|DNASE1L2_ENST00000382437.4_Nonsense_Mutation_p.E128*|DNASE1L2_ENST00000567494.1_Nonsense_Mutation_p.E128*			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	128					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						CTTCAGCCGCGAGCCCTTCGT	0.711													4	14					3.59834e-05	3.66827e-05	1	0	T	2287441	G	T	2287441	4	4	408	1	0	0	0	0	0	1	0	0	4698	1059	37	3	396	3	DNASE1L2	16	2287441	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2170	2287441	88067312	3001	80819											
RNPS1	10921	broad.mit.edu	37	chr16	2313109	2313109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactcacttggagcgggagCgcctcctgttgtcgtgtctg	4	11	14	12	3	2	0	1	0	1	0	4	2	3	2	2	2	2	2	2	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2313109C>T	ENST00000565678.1	-	4	952	c.407G>A	c.(406-408)cGc>cAc	p.R136H	RNPS1_ENST00000567147.1_Missense_Mutation_p.R113H|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000397086.2_Missense_Mutation_p.R136H|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000320225.5_Missense_Mutation_p.R136H|RNPS1_ENST00000568631.1_Missense_Mutation_p.R136H|RNPS1_ENST00000569598.2_Missense_Mutation_p.R42H|RNPS1_ENST00000566458.1_Missense_Mutation_p.R113H|RNPS1_ENST00000301730.8_Missense_Mutation_p.R136H			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	136	Arg-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GGAGCGGGAGCGCCTCCTGTT	0.582													14	51					0	0	0	0	T	2313109	C	T	2313109	3	4	408	1	0	0	0	0	1	0	0	0	13596	768	27	1	530	1	RNPS1	16	2313109	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	25668	2313109	88041644	3002	80820											
ABCA3	21	broad.mit.edu	37	chr16	2347421	2347421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccagcaggtcagcctcGtccatgaagtgggtggtcag	7	9	13	12	1	3	1	2	1	1	0	6	1	4	1	3	3	2	1	3	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2347421G>A	ENST00000301732.5	-	17	2872	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D	ABCA3_ENST00000382381.3_Silent_p.D666D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	724	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGTCAGCCTCGTCCATGAAGT	0.617													42	157					0	0	0	0	A	2347421	G	A	2347421	2	1	408	1	0	0	0	0	0	0	0	1	33	1136	40	1		1	ABCA3	16	2347421	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	34312	2347421	88007332	3003	80821											
C16orf59	80178	broad.mit.edu	37	chr16	2510684	2510684	+	Frame_Shift_Del	DEL	C	C	-																															ccagaaactaatggagaggaCccccttccaggtaaacctcc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2510684delC	ENST00000569496.1	+	3	245	c.186delC	c.(184-186)gafs	p.D62fs	C16orf59_ENST00000361837.4_Frame_Shift_Del_p.D62fs|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Frame_Shift_Del_p.D62fs			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	62										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATGGAGAGGACCCCCTTCCAG	0.642													13	49	---	---	---	---					-	2510684	C	-	2510684	7	5	408	1	0	1	0	1	0	0	0	0	1836	506	18	0	196	0	C16orf59	16	2510684	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	163263	2510684	87844069	3004	80822											
TBC1D24	57465	broad.mit.edu	37	chr16	2546979	2546979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcgtcagagacatcgCgaagacggtgtcccctgaga	10	7	12	12	5	1	3	1	1	0	3	4	6	2	3	2	1	0	1	2	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2546979C>T	ENST00000567020.1	+	2	970	c.830C>T	c.(829-831)gCg>gTg	p.A277V	TBC1D24_ENST00000434757.2_Missense_Mutation_p.A277V|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A277V|TBC1D24_ENST00000293970.5_Missense_Mutation_p.A277V	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	277					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AGAGACATCGCGAAGACGGTG	0.612													36	102					0	0	0	0	T	2546979	C	T	2546979	3	4	408	1	0	0	0	0	1	0	0	0	15705	768	27	1	832	1	TBC1D24	16	2546979	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	36295	2546979	87807774	3005	80823											
TBC1D24	57465	broad.mit.edu	37	chr16	2547000	2547000	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagacggtgtcccctgagaAgctgctggagaaagcgttcg	10	7	15	9	3	0	3	0	1	0	3	2	6	1	3	2	2	3	3	2	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2547000A>G	ENST00000567020.1	+	2	991	c.851A>G	c.(850-852)aAg>aGg	p.K284R	TBC1D24_ENST00000434757.2_Missense_Mutation_p.K284R|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.K284R|TBC1D24_ENST00000293970.5_Missense_Mutation_p.K284R	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	284					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCCCTGAGAAGCTGCTGGAG	0.607													26	96					0	0	0	0	G	2547000	A	G	2547000	3	3	408	1	0	0	0	0	1	0	0	0	15705	72	3	5	853	5	TBC1D24	16	2547000	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	21	2547000	87807753	3006	80824											
PRSS27	83886	broad.mit.edu	37	chr16	2765775	2765775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgatgaggctgcccccGcagaagtggcttccgttgcg	5	8	14	14	5	0	2	0	1	0	1	2	3	2	2	4	2	2	4	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2765775G>A	ENST00000302641.3	-	3	234	c.180C>T	c.(178-180)tgC>tgT	p.C60C		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GGCTGCCCCCGCAGAAGTGGC	0.697													4	19					0	0	0	0	A	2765775	G	A	2765775	2	1	408	1	0	0	0	0	0	0	0	1	12700	1079	38	1		1	PRSS27	16	2765775	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	218775	2765775	87588978	3007	80825											
SRRM2	23524	broad.mit.edu	37	chr16	2812213	2812213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcaaggcgagggaggTcccactctagatccccagcc	9	5	13	14	1	2	1	1	0	1	1	4	3	4	2	4	4	2	1	4	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2812213T>C	ENST00000301740.8	+	11	2233	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	562	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGAGGGAGGTCCCACTCTAG	0.622													4	63					0	0	0	0	C	2812213	T	C	2812213	3	2	408	1	0	0	0	0	1	0	0	0	15259	1667	58	5	1722	5	SRRM2	16	2812213	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	46438	2812213	87542540	3008	80826											
SRRM2	23524	broad.mit.edu	37	chr16	2816519	2816519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggagatctcgatctcGcacatctccagtaactcgaa	12	8	8	13	4	3	1	0	0	3	1	7	5	3	1	2	1	1	2	2	1	3	1	rs138447860	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2816519G>A	ENST00000301740.8	+	11	6539	c.5990G>A	c.(5989-5991)cGc>cAc	p.R1997H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1997	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTCGATCTCGCACATCTCCA	0.577													4	103					0	0	0	0	A	2816519	G	A	2816519	3	1	408	1	0	0	0	0	1	0	0	0	15259	1087	38	1	6028	1	SRRM2	16	2816519	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4306	2816519	87538234	3009	80827											
SRRM2	23524	broad.mit.edu	37	chr16	2816806	2816806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcgttcacgatctgctactCctccagcaacaagaaatcat	13	10	5	13	2	3	1	2	0	1	1	6	2	5	1	2	0	4	3	2	0	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2816806C>T	ENST00000301740.8	+	11	6826	c.6277C>T	c.(6277-6279)Cct>Tct	p.P2093S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2093	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCTGCTACTCCTCCAGCAAC	0.517													31	241					0	0	0	0	T	2816806	C	T	2816806	3	4	408	1	0	0	0	0	1	0	0	0	15259	855	30	2	6315	2	SRRM2	16	2816806	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	287	2816806	87537947	3010	80828											
PRSS22	64063	broad.mit.edu	37	chr16	2906204	2906204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgctgtcagtgctgtcctCgccgcccacaacccggttca	5	9	9	18	4	2	0	2	0	0	0	5	0	3	0	4	1	2	3	4	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2906204C>T	ENST00000161006.3	-	3	225	c.160G>A	c.(160-162)Gag>Aag	p.E54K	PRSS22_ENST00000571228.1_Missense_Mutation_p.E54K|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	54	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GTGCTGTCCTCGCCGCCCACA	0.607													19	68					0	0	0	0	T	2906204	C	T	2906204	3	4	408	1	0	0	0	0	1	0	0	0	12698	893	31	1	809	1	PRSS22	16	2906204	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	89398	2906204	87448549	3011	80829											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983960	2983960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagaaacgccccaacaCggcgcagcgggggagcccag	10	0	17	14	5	0	1	0	0	0	1	0	3	0	2	3	4	4	1	3	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2983960C>T	ENST00000399667.2	+	6	1856	c.1493C>T	c.(1492-1494)aCg>aTg	p.T498M	FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T498M|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T497M			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	498						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CGCCCCAACACGGCGCAGCGG	0.711													3	4					0	0	0	0	T	2983960	C	T	2983960	3	4	408	1	0	0	0	0	1	0	0	0	5992	536	19	1	1504	1	FLYWCH1	16	2983960	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	77756	2983960	87370793	3012	80830											
CLDN6	9074	broad.mit.edu	37	chr16	3065456	3065456	+	Frame_Shift_Del	DEL	C	C	-																															taatggctggggccctgggaCccccccgaggggcaagtgca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3065456delC	ENST00000396925.1	-	3	995	c.567delG	c.(565-567)ggfs	p.G189fs	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G189fs			P56747	CLD6_HUMAN	claudin 6	189					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGCCCTGGGACCCCCCCGAGG	0.642													23	68	---	---	---	---					-	3065456	C	-	3065456	7	5	408	1	0	1	0	1	0	0	0	0	3519	494	18	0	99	0	CLDN6	16	3065456	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	81496	3065456	87289297	3013	80831											
HCFC1R1	54985	broad.mit.edu	37	chr16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-																															agggctggggagaaggtcatGggggggctgcagtaggggtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3073266delG	ENST00000248089.3	-	3	553	c.249delC	c.(247-249)ccfs	p.P83fs	HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.P64fs|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.P81fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.P83fs|HCFC1R1_ENST00000572355.1_Frame_Shift_Del_p.P43fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.P83fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	83						cytoplasm|nucleus		p.M65fs*1(1)		breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						AGAAGGTCATGGGGGGGCTGC	0.617													28	95	---	---	---	---					-	3073266	G	-	3073266	7	5	408	1	0	1	0	1	0	0	0	0	7042	1335	47	0	175	0	HCFC1R1	16	3073266	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	7810	3073266	87281487	3014	80832											
THOC6	79228	broad.mit.edu	37	chr16	3077433	3077433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggggagctgaaggcccagGtgcctggctcctccccaggg	5	5	17	14	1	0	1	0	1	0	0	2	2	2	2	5	6	2	2	5	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3077433G>A	ENST00000326266.8	+	12	1173	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	THOC6_ENST00000253952.9_Intron|THOC6_ENST00000574549.1_Missense_Mutation_p.V269M|THOC6_ENST00000575576.1_Missense_Mutation_p.V269M	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	293					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAAGGCCCAGGTGCCTGGCTC	0.701													14	47					0	0	0	0	A	3077433	G	A	3077433	3	1	408	1	0	0	0	0	1	0	0	0	15963	1261	44	4	923	4	THOC6	16	3077433	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4167	3077433	87277320	3015	80833											
ZNF205	7755	broad.mit.edu	37	chr16	3169916	3169916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacccacacgggcgccaagCcgcacaagtgccccatctgc	9	3	10	19	3	1	0	0	0	1	0	1	0	1	0	5	1	3	2	5	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3169916C>T	ENST00000382192.3	+	7	1460	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.P419S|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGGCGCCAAGCCGCACAAGTG	0.682													34	129					0	0	0	0	T	3169916	C	T	3169916	3	4	408	1	0	0	0	0	1	0	0	0	17859	739	26	4	1277	4	ZNF205	16	3169916	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	92483	3169916	87184837	3016	80834											
ZNF213	7760	broad.mit.edu	37	chr16	3189024	3189024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttctcccgggaagaaTggggcaccctggaccctgct	7	10	11	13	1	2	1	0	0	2	1	3	3	2	3	3	4	1	2	3	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3189024T>C	ENST00000396878.3	+	5	1121	c.646T>C	c.(646-648)Tgg>Cgg	p.W216R	ZNF213_ENST00000416391.2_Missense_Mutation_p.W58R|ZNF213_ENST00000574902.1_Missense_Mutation_p.W216R|ZNF213_ENST00000576416.1_Missense_Mutation_p.W216R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	216	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCGGGAAGAATGGGGCACCCT	0.622													25	132					0	0	0	0	C	3189024	T	C	3189024	3	2	408	1	0	0	0	0	1	0	0	0	17864	1464	51	5	660	5	ZNF213	16	3189024	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	19108	3189024	87165729	3017	80835											
MEFV	4210	broad.mit.edu	37	chr16	3294277	3294277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatttccatttctgaaCgcagggtttctaaaatgtgg	11	14	9	7	1	2	2	0	2	2	0	3	2	3	2	1	2	2	2	1	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3294277C>T	ENST00000219596.1	-	8	1775	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	MEFV_ENST00000536379.1_Missense_Mutation_p.R368H|MEFV_ENST00000541159.1_Missense_Mutation_p.R368H|MEFV_ENST00000339854.4_Missense_Mutation_p.R399H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	579					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R579H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CATTTCTGAACGCAGGGTTTC	0.532													14	32					0	0	0	0	T	3294277	C	T	3294277	3	4	408	1	0	0	0	0	1	0	0	0	9528	536	19	1	621	1	MEFV	16	3294277	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	105253	3294277	87060476	3018	80836											
TIGD7	91151	broad.mit.edu	37	chr16	3350059	3350059	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaattttctggcattgActtccaaaagaggtctgttt	10	15	9	7	0	2	3	0	2	2	2	3	4	3	3	1	2	0	2	1	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3350059A>T	ENST00000396862.1	-	2	2384	c.556T>A	c.(556-558)Tca>Aca	p.S186T	TIGD7_ENST00000268674.2_Missense_Mutation_p.S186T	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	186	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						tctggcattgacttccaaaag	0.403													62	156					0	0	0	0	T	3350059	A	T	3350059	3	4	408	1	0	0	0	0	1	0	0	0	15995	275	10	5	1097	5	TIGD7	16	3350059	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	55782	3350059	87004694	3019	80837											
ZNF75A	7627	broad.mit.edu	37	chr16	3367268	3367268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacaagcatcagcaggcgTcatatcaaaaaaggccaaag	19	5	8	9	1	3	0	3	0	0	0	3	0	3	0	1	2	3	2	1	2	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3367268T>C	ENST00000574298.1	+	6	763	c.290T>C	c.(289-291)gTc>gCc	p.V97A	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCAGCAGGCGTCATATCAAAA	0.388													8	110					0	0	0	0	C	3367268	T	C	3367268	3	2	408	1	0	0	0	0	1	0	0	0	18227	1667	58	5	300	5	ZNF75A	16	3367268	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	17209	3367268	86987485	3020	80838											
CLUAP1	23059	broad.mit.edu	37	chr16	3554830	3554830	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttctctggcttgtgaaaAggttcgaacggcactttatt	8	15	10	8	2	1	1	0	1	1	0	3	2	1	1	0	3	2	4	0	3	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3554830A>G	ENST00000571025.1	+	2	183	c.134_splice	c.e2+1	p.R45_splice	CLUAP1_ENST00000341633.5_Splice_Site_p.R45_splice|CLUAP1_ENST00000576634.1_Splice_Site_p.R45_splice|CLUAP1_ENST00000417763.2_5'UTR|LA16c-306E5.3_ENST00000574423.2_RNA			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	45						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCTTGTGAAAAGGTTCGAACG	0.408													10	43					0	0	0	0	G	3554830	A	G	3554830	5	3	408	1	0	0	0	0	0	0	1	0	3599	86	3	5	139	5	CLUAP1	16	3554830	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	187562	3554830	86799923	3021	80839											
TRAP1	10131	broad.mit.edu	37	chr16	3712055	3712055	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtcttggccagctgctGcatgcgcaggaagtggcggg	5	8	18	10	2	1	0	0	0	1	0	1	1	1	1	1	5	4	4	1	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3712055G>A	ENST00000575671.1	-	11	1975	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q572*|TRAP1_ENST00000246957.5_Nonsense_Mutation_p.Q625*			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	625					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GCCAGCTGCTGCATGCGCAGG	0.672													9	42					0	0	0	0	A	3712055	G	A	3712055	4	1	408	1	0	0	0	0	0	1	0	0	16550	1328	46	4	253	4	TRAP1	16	3712055	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	157225	3712055	86642698	3022	80840											
CREBBP	1387	broad.mit.edu	37	chr16	3788663	3788663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactatccagataagaaaTgtacacacgcctgtgggaag	16	8	9	8	1	0	2	0	0	0	2	1	3	1	3	2	1	2	1	2	1	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3788663T>C	ENST00000262367.5	-	26	5100	c.4291A>G	c.(4291-4293)Att>Gtt	p.I1431V	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1393V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1431	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGATAAGAAATGTACACACGC	0.418			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						12	25					0	0	0	0	C	3788663	T	C	3788663	3	2	408	1	0	0	0	0	1	0	0	0	3891	1464	51	5	3061	5	CREBBP	16	3788663	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	76608	3788663	86566090	3023	80841											
CREBBP	1387	broad.mit.edu	37	chr16	3790495	3790496	+	Frame_Shift_Ins	INS	-	-	A																															cagggtgattctggcgccgcINSaaaaatttgttcactcggtc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3790495_3790496insA	ENST00000262367.5	-	24	4846_4847	c.4037_4038insT	c.(4036-4038)tcgfs	p.S1346fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.S1308fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1346	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTGGCGCCGCAAAAATTTGTT	0.569			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						23	73	---	---	---	---					A	3790496	-	A	3790495	7	5	408	1	0	1	1	0	0	0	0	0	3891	709	25	0	3322	0	CREBBP	16	3790495	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	1832	3790495	86564258	3024	80842											
CREBBP	1387	broad.mit.edu	37	chr16	3820641	3820641	+	Frame_Shift_Del	DEL	G	G	-																															actgaggggtagccacagacGggggctgaactggggtttga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3820641delG	ENST00000262367.5	-	14	3619	c.2810delC	c.(2809-2811)cgfs	p.P937fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P899fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	937					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCCACAGACGGGGGCTGAAC	0.647			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						91	296	---	---	---	---					-	3820641	G	-	3820641	7	5	408	1	0	1	0	1	0	0	0	0	3891	1116	39	0	4590	0	CREBBP	16	3820641	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	30146	3820641	86534112	3025	80843											
CREBBP	1387	broad.mit.edu	37	chr16	3830807	3830809	+	In_Frame_Del	DEL	AGG	AGG	-																															ttccttacaccggtgctagaAggaggagctgctgttggtat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3830807_3830809delAGG	ENST00000262367.5	-	8	2556_2558	c.1747_1749delCCT	c.(1747-1749)del	p.P583del	CREBBP_ENST00000382070.3_In_Frame_Del_p.P545del	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	583					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGGTGCTAGAAGGAGGAGCTGCT	0.478			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						22	76	---	---	---	---					-	3830809	AGG	-	3830807	7	5	408	1	0	1	0	1	0	0	0	0	3891	59	3	0	5675	0	CREBBP	16	3830807	In_Frame_Del	DEL	AGG	TCGA-F7-A624-01A-22D-A30E-08	10166	3830807	86523946	3026	80844											
NUDT16L1	84309	broad.mit.edu	37	chr16	4745140	4745142	+	In_Frame_Del	DEL	AGA	AGA	-																															ggctgcagccaccgagaagcAgaagaaggccctggagaagt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:4745140_4745142delAGA	ENST00000304301.6	+	3	629_631	c.596_598delAGA	c.(595-600)cag>c	p.QK199del	NUDT16L1_ENST00000586536.1_3'UTR|NUDT16L1_ENST00000586252.1_In_Frame_Del_p.QK159del|NUDT16L1_ENST00000405142.1_3'UTR	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	199	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						ACCGAGAAGCAGAAGAAGGCCCT	0.616													27	92	---	---	---	---					-	4745142	AGA	-	4745140	7	5	408	1	0	1	0	1	0	0	0	0	10804	188	7	0	606	0	NUDT16L1	16	4745140	In_Frame_Del	DEL	AGA	TCGA-F7-A624-01A-22D-A30E-08	914333	4745140	85609613	3027	80845											
SEPT12	124404	broad.mit.edu	37	chr16	4833691	4833691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctccatggtcaggctgtCggccctggcaatcacgggca	6	8	12	15	2	2	0	2	0	0	0	5	0	4	0	3	5	0	3	3	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:4833691C>T	ENST00000268231.8	-	6	852	c.589G>A	c.(589-591)Gac>Aac	p.D197N	SEPT12_ENST00000396693.5_Missense_Mutation_p.D151N	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	197					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GTCAGGCTGTCGGCCCTGGCA	0.687													22	69					0	0	0	0	T	4833691	C	T	4833691	3	4	408	1	0	0	0	0	1	0	0	0	14149	884	31	1	507	1	SEPT12	16	4833691	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	88551	4833691	85521062	3028	80846											
NAGPA	51172	broad.mit.edu	37	chr16	5083689	5083689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggaggcgcgcgcgcgCgcgtggatagggcagtagca	6	3	21	11	8	0	0	0	0	0	0	0	2	0	2	1	5	1	3	1	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:5083689C>T	ENST00000312251.3	-	2	146	c.127G>A	c.(127-129)Gcg>Acg	p.A43T	NAGPA_ENST00000381955.3_Missense_Mutation_p.A43T|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	43					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CGCGCGCGCGCGCGTGGATAG	0.761													8	22					0	0	0	0	T	5083689	C	T	5083689	3	4	408	1	0	0	0	0	1	0	0	0	10214	768	27	1	1456	1	NAGPA	16	5083689	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	249998	5083689	85271064	3029	80847											
ABAT	18	broad.mit.edu	37	chr16	8829566	8829566	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcagggtggcagcaCgcaaagggtgtccctgtccc	6	11	12	12	1	2	0	1	0	1	0	4	0	4	0	2	3	1	3	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:8829566C>T	ENST00000567812.1	+	2	277	c.15C>T	c.(13-15)caC>caT	p.H5H	ABAT_ENST00000425191.2_5'UTR|ABAT_ENST00000569156.1_5'UTR|ABAT_ENST00000396600.2_5'UTR|ABAT_ENST00000268251.8_5'UTR			P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	0					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTGGCAGCACGCAAAGGGTG	0.597													3	5					0	0	0	0	T	8829566	C	T	8829566	2	4	408	1	0	0	0	0	0	0	0	1	27	551	19	1		1	ABAT	16	8829566	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3745877	8829566	81525187	3030	80848											
USP7	7874	broad.mit.edu	37	chr16	8989584	8989584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccaatgattttgtagcttAcaatttctagcagcctgaac	12	13	6	10	0	1	2	0	2	1	0	1	2	1	2	2	0	5	3	2	0	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:8989584A>G	ENST00000344836.4	-	27	3032	c.2834T>C	c.(2833-2835)gTa>gCa	p.V945A	USP7_ENST00000381886.4_Missense_Mutation_p.V929A|USP7_ENST00000535863.1_Missense_Mutation_p.V846A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	945					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTGTAGCTTACAATTTCTAG	0.338													9	27					0	0	0	0	G	8989584	A	G	8989584	3	3	408	1	0	0	0	0	1	0	0	0	17184	391	14	5	494	5	USP7	16	8989584	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	160018	8989584	81365169	3031	80849											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524744	10524744	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatatcagagaaaagtaaAgtattctctcagaattgcat	17	12	6	6	0	4	2	3	0	1	2	5	3	4	2	0	0	1	3	0	0	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:10524744A>G	ENST00000396560.2	+	3	494	c.267A>G	c.(265-267)aaA>aaG	p.K89K	ATF7IP2_ENST00000356427.2_Silent_p.K89K|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.K89K|ATF7IP2_ENST00000324570.5_Silent_p.K89K	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGAAAAGTAAAGTATTCTCTC	0.338													18	52					0	0	0	0	G	10524744	A	G	10524744	2	3	408	1	0	0	0	0	0	0	0	1	1092	69	3	5		5	ATF7IP2	16	10524744	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1535160	10524744	79830009	3032	80850											
CIITA	4261	broad.mit.edu	37	chr16	11001615	11001615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctggagggcgtgccaCgctttctggctgggctgatc	4	10	16	11	2	1	1	0	1	1	0	2	2	1	2	1	5	1	4	1	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:11001615C>T	ENST00000324288.8	+	11	2399	c.2266C>T	c.(2266-2268)Cgc>Tgc	p.R756C	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	756					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGGCGTGCCACGCTTTCTGGC	0.632			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								37	114					0	0	0	0	T	11001615	C	T	11001615	3	4	408	1	0	0	0	0	1	0	0	0	3457	536	19	1	2308	1	CIITA	16	11001615	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	476871	11001615	79353138	3033	80851											
ZC3H7A	29066	broad.mit.edu	37	chr16	11855799	11855799	+	Frame_Shift_Del	DEL	T	T	-																															ttgcactacaatattttctgTttttgtctggttcaatgact																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:11855799delT	ENST00000396516.2	-	17	2377	c.2180delA	c.(2179-2181)acfs	p.N727fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.N727fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	727						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ATATTTTCTGTTTTTGTCTGG	0.338													19	47	---	---	---	---					-	11855799	T	-	11855799	7	5	408	1	0	1	0	1	0	0	0	0	17667	1725	60	0	759	0	ZC3H7A	16	11855799	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	854184	11855799	78498954	3034	80852											
SNX29	92017	broad.mit.edu	37	chr16	12662375	12662375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagcgacatcaccccGcccggagagcctgtgaacag	9	7	10	15	3	3	2	2	1	1	1	3	4	3	2	4	1	3	0	4	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:12662375G>A	ENST00000566228.1	+	21	2400	c.2331G>A	c.(2329-2331)ccG>ccA	p.P777P	SNX29_ENST00000306030.3_Silent_p.P392P|CTD-3037G24.3_ENST00000564505.1_RNA	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	392					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACATCACCCCGCCCGGAGAGC	0.637													25	62					0	0	0	0	A	12662375	G	A	12662375	2	1	408	1	0	0	0	0	0	0	0	1	14986	1074	38	1		1	SNX29	16	12662375	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	806576	12662375	77692378	3035	80853											
NOMO1	23420	broad.mit.edu	37	chr16	14968915	14968915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatcgacagtgaacccGccttggtcttaggccctctg	6	11	9	15	2	2	1	0	1	2	0	4	2	3	1	4	2	1	0	4	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:14968915G>A	ENST00000287667.7	+	19	2248	c.2077G>A	c.(2077-2079)Gcc>Acc	p.A693T		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	693						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CAGTGAACCCGCCTTGGTCTT	0.557													45	90					0	0	0	0	A	14968915	G	A	14968915	3	1	408	1	0	0	0	0	1	0	0	0	10601	1087	38	1	2151	1	NOMO1	16	14968915	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2306540	14968915	75385838	3036	80854											
NOMO1	23420	broad.mit.edu	37	chr16	14989418	14989418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggctacagggagtccgCgcgctcggccaggcagcctc	6	4	15	16	5	0	0	0	0	0	0	3	1	1	1	4	4	3	3	4	4	1	1	rs142020293		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:14989418C>T	ENST00000287667.7	+	31	3756	c.3585C>T	c.(3583-3585)cgC>cgT	p.R1195R		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1195			R -> G.			integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AGGGAGTCCGCGCGCTCGGCC	0.547													117	737					0	0	0	0	T	14989418	C	T	14989418	2	4	408	1	0	0	0	0	0	0	0	1	10601	755	27	1		1	NOMO1	16	14989418	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	20503	14989418	75365335	3037	80855											
NTAN1	123803	broad.mit.edu	37	chr16	15141945	15141945	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagactgacctctgagaagTctggctctttcctgtttaat	9	14	8	10	0	3	3	0	2	3	2	4	4	4	3	2	1	0	2	2	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:15141945T>C	ENST00000287706.3	-	2	185	c.93A>G	c.(91-93)agA>agG	p.R31R	PDXDC1_ENST00000535621.2_Intron	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	31						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						CTCTGAGAAGTCTGGCTCTTT	0.433													8	138					0	0	0	0	C	15141945	T	C	15141945	2	2	408	1	0	0	0	0	0	0	0	1	10766	1664	58	5		5	NTAN1	16	15141945	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	152527	15141945	75212808	3038	80856											
C16orf45	89927	broad.mit.edu	37	chr16	15609245	15609245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaaaattcagcgtctcCgggaagtcttggtccgccgg	8	9	13	11	4	3	0	1	0	2	0	5	1	4	1	3	4	1	1	3	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:15609245C>T	ENST00000300006.4	+	2	549	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	C16orf45_ENST00000561692.1_Missense_Mutation_p.R16W|C16orf45_ENST00000452191.2_Missense_Mutation_p.R47W|C16orf45_ENST00000566490.1_Missense_Mutation_p.R64W	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	64								p.R64fs*6(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCAGCGTCTCCGGGAAGTCTT	0.527													13	41					0	0	0	0	T	15609245	C	T	15609245	3	4	408	1	0	0	0	0	1	0	0	0	1827	643	23	1	255	1	C16orf45	16	15609245	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	467300	15609245	74745508	3039	80857											
KIAA0430	9665	broad.mit.edu	37	chr16	15694557	15694557	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccttttatccagaccAcctgcacacaagacatacta	13	10	4	14	0	0	2	0	0	0	2	2	2	2	2	4	0	2	1	4	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:15694557A>G	ENST00000396368.3	-	24	4834	c.4626_splice	c.e24-1	p.V1543_splice	KIAA0430_ENST00000540441.2_Splice_Site_p.V1378_splice|KIAA0430_ENST00000551742.1_Splice_Site_p.V1543_splice|KIAA0430_ENST00000602337.1_Splice_Site_p.V1540_splice|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000548025.1_Splice_Site_p.V1540_splice	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1542						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TATCCAGACCACCTGCACACA	0.458													4	178					0	0	0	0	G	15694557	A	G	15694557	5	3	408	1	0	0	0	0	0	0	1	0	8228	173	6	5	616	5	KIAA0430	16	15694557	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	85312	15694557	74660196	3040	80858											
NDE1	54820	broad.mit.edu	37	chr16	15785048	15785049	+	Frame_Shift_Ins	INS	-	-	C																															gaagcaggagaaacccaggaINScccccatgcccagctcagtg																								rs113493697	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:15785048_15785049insC	ENST00000396355.1	+	7	1397_1398	c.571_572insC	c.(571-573)cccfs	p.P191fs	NDE1_ENST00000396353.2_Frame_Shift_Ins_p.P191fs|NDE1_ENST00000342673.5_Frame_Shift_Ins_p.P191fs|NDE1_ENST00000396354.1_Frame_Shift_Ins_p.P191fs	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	191	Interaction with CENPF (By similarity).			T -> I (in Ref. 3; AAH33900).	cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GAAACCCAGGACCCCCATGCCC	0.609													20	108	---	---	---	---					C	15785049	-	C	15785048	7	5	408	1	0	1	1	0	0	0	0	0	10313	275	10	0	589	0	NDE1	16	15785048	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	90491	15785048	74569705	3041	80859											
TMC5	79838	broad.mit.edu	37	chr16	19477442	19477442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtactatggcttttaCaccaattccaccatccagca	11	12	6	12	0	0	1	0	1	0	0	2	1	2	1	4	1	3	3	4	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:19477442C>T	ENST00000396229.2	+	9	2273	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	TMC5_ENST00000542583.2_Silent_p.Y508Y|TMC5_ENST00000564959.1_Silent_p.Y191Y|TMC5_ENST00000381414.4_Silent_p.Y508Y|TMC5_ENST00000219821.5_Silent_p.Y262Y|TMC5_ENST00000541464.1_Silent_p.Y508Y|TMC5_ENST00000561503.1_Silent_p.Y149Y	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	508						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATGGCTTTTACACCAATTCCA	0.458													5	68					0	0	0	0	T	19477442	C	T	19477442	2	4	408	1	0	0	0	0	0	0	0	1	16082	489	17	4		4	TMC5	16	19477442	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3692394	19477442	70877311	3042	80860											
C16orf62	57020	broad.mit.edu	37	chr16	19576215	19576215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagctgaatttgcatcatgCcgactggaggctgtaccatt	11	11	10	9	1	1	1	1	1	0	0	1	3	1	2	2	2	4	4	2	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:19576215C>T	ENST00000438132.3	+	2	375	c.327C>T	c.(325-327)tgC>tgT	p.C109C	C16orf62_ENST00000251143.5_Silent_p.C20C|C16orf62_ENST00000417362.2_Silent_p.C20C|C16orf62_ENST00000542263.1_Silent_p.C109C|C16orf62_ENST00000538853.1_Silent_p.C109C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	20						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTGCATCATGCCGACTGGAGG	0.428													17	48					0	0	0	0	T	19576215	C	T	19576215	2	4	408	1	0	0	0	0	0	0	0	1	1838	747	26	4		4	C16orf62	16	19576215	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	98773	19576215	70778538	3043	80861											
C16orf62	57020	broad.mit.edu	37	chr16	19628077	19628077	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccatcttacctccccttgTacccgcctgccatggactgg	5	11	7	18	1	1	0	0	0	1	0	3	1	3	1	7	2	3	1	7	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:19628077T>C	ENST00000438132.3	+	14	1486	c.1438T>C	c.(1438-1440)Tac>Cac	p.Y480H	C16orf62_ENST00000543152.1_Missense_Mutation_p.Y140H|C16orf62_ENST00000251143.5_Missense_Mutation_p.Y391H|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000448695.1_Missense_Mutation_p.Y241H|C16orf62_ENST00000542263.1_Intron	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	391						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCTCCCCTTGTACCCGCCTGC	0.552													19	45					0	0	0	0	C	19628077	T	C	19628077	3	2	408	1	0	0	0	0	1	0	0	0	1838	1638	57	5	1225	5	C16orf62	16	19628077	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	51862	19628077	70726676	3044	80862											
IQCK	124152	broad.mit.edu	37	chr16	19775178	19775178	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcttcagaggaaaagAaccaaattcattgcctgtga	13	12	7	9	0	4	3	2	1	2	2	5	4	4	4	2	1	2	0	2	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:19775178A>G	ENST00000320394.6	+	6	1182	c.483A>G	c.(481-483)agA>agG	p.R161R	IQCK_ENST00000433597.2_Silent_p.R73R|IQCK_ENST00000564186.1_Silent_p.R161R|IQCK_ENST00000541926.1_Silent_p.R161R|CTD-2380F24.1_ENST00000568843.1_RNA|CTD-2380F24.1_ENST00000565817.1_RNA|CTD-2380F24.1_ENST00000564490.1_RNA|IQCK_ENST00000562762.1_3'UTR	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	161										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						AGAGGAAAAGAACCAAATTCA	0.343													17	53					0	0	0	0	G	19775178	A	G	19775178	2	3	408	1	0	0	0	0	0	0	0	1	7866	243	9	5		5	IQCK	16	19775178	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	147101	19775178	70579575	3045	80863											
UMOD	7369	broad.mit.edu	37	chr16	20355487	20355487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtaagtggcatgggttTcattcctctgttgcagggaa	7	14	13	7	0	2	0	1	0	1	0	3	1	3	1	1	3	2	6	1	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:20355487T>C	ENST00000396134.2	-	7	1412	c.1289A>G	c.(1288-1290)gAa>gGa	p.E430G	UMOD_ENST00000570689.1_Missense_Mutation_p.E397G|UMOD_ENST00000396138.4_Missense_Mutation_p.E446G|UMOD_ENST00000424589.1_Missense_Mutation_p.E430G|UMOD_ENST00000396142.2_Missense_Mutation_p.E397G|UMOD_ENST00000302509.4_Missense_Mutation_p.E397G	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	397	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCATGGGTTTCATTCCTCTG	0.517													17	61					0	0	0	0	C	20355487	T	C	20355487	3	2	408	1	0	0	0	0	1	0	0	0	17075	1783	62	5	756	5	UMOD	16	20355487	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	580309	20355487	69999266	3046	80864											
ACSM2A	123876	broad.mit.edu	37	chr16	20482920	20482920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacacaggttggatactgaAcatcttgtgctcacttatgg	11	12	10	8	0	2	2	1	1	1	1	2	3	2	3	0	3	3	2	0	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:20482920A>G	ENST00000573854.1	+	6	917	c.803A>G	c.(802-804)aAc>aGc	p.N268S	ACSM2A_ENST00000396104.2_Missense_Mutation_p.N268S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N268S|ACSM2A_ENST00000536134.1_Missense_Mutation_p.N40S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N268S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N189S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	268					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGGATACTGAACATCTTGTGC	0.433													48	192					0	0	0	0	G	20482920	A	G	20482920	3	3	408	1	0	0	0	0	1	0	0	0	183	43	2	5	821	5	ACSM2A	16	20482920	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	127433	20482920	69871833	3047	80865											
DNAH3	55567	broad.mit.edu	37	chr16	21042591	21042591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcttgtactccacagcaaActcctccatctgattggctg	9	12	7	13	0	2	1	0	1	2	0	5	2	5	1	3	1	3	3	3	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:21042591A>G	ENST00000261383.3	-	37	5214	c.5215T>C	c.(5215-5217)Ttt>Ctt	p.F1739L	DNAH3_ENST00000415178.1_Missense_Mutation_p.F1739L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1739	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCACAGCAAACTCCTCCATC	0.493													5	77					0	0	0	0	G	21042591	A	G	21042591	3	3	408	1	0	0	0	0	1	0	0	0	4640	43	2	5	7238	5	DNAH3	16	21042591	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	559671	21042591	69312162	3048	80866											
UQCRC2	7385	broad.mit.edu	37	chr16	21994469	21994469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtggaaatttgggacatAcaccttttgttgatgagttg	11	14	11	5	0	0	2	0	2	0	0	0	4	0	4	1	2	1	2	1	2	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:21994469A>G	ENST00000268379.4	+	14	2103	c.1339A>G	c.(1339-1341)Aca>Gca	p.T447A	UQCRC2_ENST00000561553.1_Missense_Mutation_p.I395M	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	447					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TTTGGGACATACACCTTTTGT	0.393													4	77					0	0	0	0	G	21994469	A	G	21994469	3	3	408	1	0	0	0	0	1	0	0	0	17116	391	14	5	1393	5	UQCRC2	16	21994469	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	951878	21994469	68360284	3049	80867											
CDR2	1039	broad.mit.edu	37	chr16	22385621	22385621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactcctctaccaggttttCcgccagcatctcggctgggt	7	11	9	14	2	2	0	0	0	2	0	5	0	4	0	4	3	3	3	4	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:22385621C>T	ENST00000268383.2	-	1	317	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CDR2_ENST00000569045.1_Intron	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	4						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ACCAGGTTTTCCGCCAGCATC	0.731													38	97					0	0	0	0	T	22385621	C	T	22385621	3	4	408	1	0	0	0	0	1	0	0	0	3201	864	30	2	1374	2	CDR2	16	22385621	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	391152	22385621	67969132	3050	80868											
USP31	57478	broad.mit.edu	37	chr16	23079773	23079773	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcctcagacttgctgTccctcttcaaaccagacttg	7	13	6	15	0	3	2	2	0	1	2	5	2	5	2	4	0	2	1	4	0	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23079773T>C	ENST00000219689.7	-	16	3652	c.3653A>G	c.(3652-3654)gAc>gGc	p.D1218G	USP31_ENST00000567975.1_Missense_Mutation_p.D511G	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1218	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGACTTGCTGTCCCTCTTCAA	0.612													4	216					0	0	0	0	C	23079773	T	C	23079773	3	2	408	1	0	0	0	0	1	0	0	0	17158	1667	58	5	409	5	USP31	16	23079773	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	694152	23079773	67274980	3051	80869											
COG7	91949	broad.mit.edu	37	chr16	23453903	23453903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttctgagtagtctggtgTatcaacaagcatcattaagc	11	14	8	8	0	4	1	2	1	2	0	4	1	4	1	0	1	3	3	0	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23453903T>C	ENST00000307149.5	-	4	684	c.499A>G	c.(499-501)Aca>Gca	p.T167A		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	167					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TAGTCTGGTGTATCAACAAGC	0.443													10	107					0	0	0	0	C	23453903	T	C	23453903	3	2	408	1	0	0	0	0	1	0	0	0	3693	1638	57	5	1869	5	COG7	16	23453903	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	374130	23453903	66900850	3052	80870											
EARS2	124454	broad.mit.edu	37	chr16	23546581	23546581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccaggtcctggaaggctgGcaccacctgctccaggcgga	8	5	14	14	1	0	0	0	0	0	0	2	3	2	2	5	6	1	3	5	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23546581G>A	ENST00000449606.1	-	4	617	c.586C>T	c.(586-588)Cca>Tca	p.P196S	EARS2_ENST00000563459.1_Missense_Mutation_p.P196S|EARS2_ENST00000563232.1_Missense_Mutation_p.P196S|EARS2_ENST00000564501.1_Missense_Mutation_p.P196S|EARS2_ENST00000564987.1_5'UTR	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	196					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TGGAAGGCTGGCACCACCTGC	0.607													5	79					0	0	0	0	A	23546581	G	A	23546581	3	1	408	1	0	0	0	0	1	0	0	0	4914	1203	42	4	1009	4	EARS2	16	23546581	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	92678	23546581	66808172	3053	80871											
PLK1	5347	broad.mit.edu	37	chr16	23701352	23701352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaagctgctgagctcaCgctcggccagcaaccgtctc	8	7	11	15	3	2	1	1	1	1	0	4	2	2	2	2	2	5	5	2	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23701352C>T	ENST00000300093.4	+	10	1891	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	594					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GCTGAGCTCACGCTCGGCCAG	0.647													22	59					0	0	0	0	T	23701352	C	T	23701352	3	4	408	1	0	0	0	0	1	0	0	0	12166	536	19	1	1818	1	PLK1	16	23701352	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	154771	23701352	66653401	3054	80872											
ERN2	10595	broad.mit.edu	37	chr16	23702298	23702298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtttgtgaagtactggaCgaagccatcagggacttggc	9	9	15	8	2	1	1	1	1	0	0	1	4	1	3	1	4	2	2	1	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23702298C>T	ENST00000256797.4	-	22	2947	c.2779G>A	c.(2779-2781)Gtc>Atc	p.V927I	ERN2_ENST00000457008.2_Missense_Mutation_p.V827I	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	879					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AAGTACTGGACGAAGCCATCA	0.617													5	96					0	0	0	0	T	23702298	C	T	23702298	3	4	408	1	0	0	0	0	1	0	0	0	5276	536	19	1	149	1	ERN2	16	23702298	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	946	23702298	66652455	3055	80873											
PRKCB	5579	broad.mit.edu	37	chr16	23847555	23847555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagagcaccgtgcgctTcgcccgcaaaggcgccctcc	7	4	13	17	6	0	1	0	0	0	1	2	3	1	1	4	2	2	3	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23847555T>C	ENST00000303531.7	+	1	211	c.59T>C	c.(58-60)tTc>tCc	p.F20S	PRKCB_ENST00000498058.1_Missense_Mutation_p.F20S|PRKCB_ENST00000321728.7_Missense_Mutation_p.F20S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	20					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ACCGTGCGCTTCGCCCGCAAA	0.701													16	82					0	0	0	0	C	23847555	T	C	23847555	3	2	408	1	0	0	0	0	1	0	0	0	12588	1783	62	5	61	5	PRKCB	16	23847555	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	145257	23847555	66507198	3056	80874											
RBBP6	5930	broad.mit.edu	37	chr16	24580555	24580555	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaaggttatgctgctggAgcacagcctagaccctcagc	11	9	10	11	0	1	1	1	0	0	1	1	2	1	2	2	2	5	4	2	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24580555A>G	ENST00000319715.4	+	17	2976	c.2544A>G	c.(2542-2544)ggA>ggG	p.G848G	RBBP6_ENST00000348022.2_Silent_p.G814G|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	848					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATGCTGCTGGAGCACAGCCTA	0.418													15	67					0	0	0	0	G	24580555	A	G	24580555	2	3	408	1	0	0	0	0	0	0	0	1	13185	291	11	5		5	RBBP6	16	24580555	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	733000	24580555	65774198	3057	80875											
TNRC6A	27327	broad.mit.edu	37	chr16	24833454	24833454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaattggcttgttctaaaaAaccttacacctcaggtaagg	14	11	7	9	0	2	0	1	0	1	0	2	0	2	0	2	3	2	3	2	3	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24833454A>G	ENST00000395799.3	+	23	5488	c.5359A>G	c.(5359-5361)Aac>Gac	p.N1787D	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1738D|TNRC6A_ENST00000432286.2_Missense_Mutation_p.N265D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1787	RRM.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGTTCTAAAAAACCTTACACC	0.473													17	43					0	0	0	0	G	24833454	A	G	24833454	3	3	408	1	0	0	0	0	1	0	0	0	16434	14	1	5	5449	5	TNRC6A	16	24833454	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	252899	24833454	65521299	3058	80876											
TNRC6A	27327	broad.mit.edu	37	chr16	24835045	24835045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtcccccaagcagcagcGacccccgaggaattagcagc	10	3	13	15	2	0	0	0	0	0	0	1	3	1	1	4	3	5	3	4	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24835045G>A	ENST00000395799.3	+	25	5935	c.5806G>A	c.(5806-5808)Gac>Aac	p.D1936N	TNRC6A_ENST00000315183.7_Missense_Mutation_p.D1887N|TNRC6A_ENST00000432286.2_Missense_Mutation_p.D414N	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1936	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAGCAGCAGCGACCCCCGAGG	0.567													53	157					0	0	0	0	A	24835045	G	A	24835045	3	1	408	1	0	0	0	0	1	0	0	0	16434	1058	37	1	5904	1	TNRC6A	16	24835045	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1591	24835045	65519708	3059	80877											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942336	24942337	+	Frame_Shift_Ins	INS	-	-	G																															tttcctaggggcggagtactINSggggggcgttggagtctggg																								rs144991183		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24942336_24942337insG	ENST00000289968.6	-	19	2352_2353	c.2283_2284insC	c.(2281-2286)ccgtacfs	p.Y762fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.Y684fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	762	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGCGGAGTACTGGGGGGCGTTG	0.609													29	261	---	---	---	---					G	24942337	-	G	24942336	7	5	408	1	0	1	1	0	0	0	0	0	869	1580	55	0	369	0	ARHGAP17	16	24942336	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	107291	24942336	65412417	3060	80878											
ARHGAP17	55114	broad.mit.edu	37	chr16	24965979	24965979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcttcaatgggcagcGcaatctcgcgcccgctcctc	7	7	10	17	4	2	0	1	0	1	0	5	0	3	0	2	2	1	4	2	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24965979G>A	ENST00000289968.6	-	10	866	c.797C>T	c.(796-798)gCg>gTg	p.A266V	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A266V|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	266	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AATGGGCAGCGCAATCTCGCG	0.547													70	205					0	0	0	0	A	24965979	G	A	24965979	3	1	408	1	0	0	0	0	1	0	0	0	869	1087	38	1	1892	1	ARHGAP17	16	24965979	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	23643	24965979	65388774	3061	80879											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251415	25251415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgaactctccggtgggCgctgaaatgagaactgttgg	9	10	15	7	2	1	3	0	3	1	1	2	4	1	3	1	3	2	2	1	3	3	1	rs146263630	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:25251415C>T	ENST00000328086.7	-	7	3429	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	876					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCCGGTGGGCGCTGAAATGA	0.453													26	73					0	0	0	0	T	25251415	C	T	25251415	3	4	408	1	0	0	0	0	1	0	0	0	17782	768	27	1	281	1	ZKSCAN2	16	25251415	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	285436	25251415	65103338	3062	80880											
NSMCE1	197370	broad.mit.edu	37	chr16	27238046	27238046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcgggtacctggaTgaggaggctgtgacagatat	8	9	15	9	1	0	3	0	2	0	1	0	5	0	5	2	4	3	2	2	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27238046T>C	ENST00000361439.4	-	6	694	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	199					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						GGTACCTGGATGAGGAGGCTG	0.642													21	50					0	0	0	0	C	27238046	T	C	27238046	3	2	408	1	0	0	0	0	1	0	0	0	10746	1464	51	5	217	5	NSMCE1	16	27238046	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1986631	27238046	63116707	3063	80881											
IL4R	3566	broad.mit.edu	37	chr16	27367196	27367196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcattgtcatcctggcCgtctgcctgttgtgctatgt	3	16	10	12	1	2	0	1	0	1	0	4	0	4	0	4	1	3	3	4	1	1	3	rs140725309	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27367196C>T	ENST00000395762.2	+	8	997	c.738C>T	c.(736-738)gcC>gcT	p.A246A	IL4R_ENST00000380922.3_Silent_p.A231A|IL4R_ENST00000170630.2_Silent_p.A246A|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Silent_p.A246A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	246					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.A246A(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCATCCTGGCCGTCTGCCTGT	0.622													27	109					0	0	0	0	T	27367196	C	T	27367196	2	4	408	1	0	0	0	0	0	0	0	1	7751	639	23	1		1	IL4R	16	27367196	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	129150	27367196	62987557	3064	80882											
IL4R	3566	broad.mit.edu	37	chr16	27373961	27373961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaggacatgggggagTcatgccttcttccaccttcg	7	9	12	13	1	2	0	1	0	1	0	4	2	3	2	4	3	2	1	4	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27373961T>C	ENST00000395762.2	+	11	1547	c.1288T>C	c.(1288-1290)Tca>Cca	p.S430P	IL4R_ENST00000380922.3_Missense_Mutation_p.S415P|IL4R_ENST00000170630.2_Missense_Mutation_p.S430P|IL4R_ENST00000543915.2_Missense_Mutation_p.S430P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	430					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CATGGGGGAGTCATGCCTTCT	0.617													35	79					0	0	0	0	C	27373961	T	C	27373961	3	2	408	1	0	0	0	0	1	0	0	0	7751	1667	58	5	1340	5	IL4R	16	27373961	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	6765	27373961	62980792	3065	80883											
GTF3C1	2975	broad.mit.edu	37	chr16	27472687	27472687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcctagaggtggatccacTtgttccagttgacctcgtgg	6	12	13	10	1	0	2	0	1	0	1	4	3	3	3	4	4	0	2	4	4	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27472687T>C	ENST00000356183.4	-	37	6329	c.6314A>G	c.(6313-6315)aAg>aGg	p.K2105R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K2080R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2105						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGGATCCACTTGTTCCAGTT	0.662													18	75					0	0	0	0	C	27472687	T	C	27472687	3	2	408	1	0	0	0	0	1	0	0	0	6922	1609	56	5	19	5	GTF3C1	16	27472687	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	98726	27472687	62882066	3066	80884											
GTF3C1	2975	broad.mit.edu	37	chr16	27480660	27480660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagcggagctggaactTcatctggcaggagttgacca	9	8	15	9	1	2	1	1	1	1	0	2	4	2	4	1	5	4	4	1	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27480660T>C	ENST00000356183.4	-	32	5041	c.5026A>G	c.(5026-5028)Aag>Gag	p.K1676E	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K1676E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1676						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGCTGGAACTTCATCTGGCAG	0.647													3	8					0	0	0	0	C	27480660	T	C	27480660	3	2	408	1	0	0	0	0	1	0	0	0	6922	1792	62	5	1327	5	GTF3C1	16	27480660	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7973	27480660	62874093	3067	80885											
KIAA0556	23247	broad.mit.edu	37	chr16	27709681	27709681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagagagacccctgtctGcaacccgcaaaactctttgc	10	7	10	14	2	2	2	0	0	2	2	2	4	2	2	3	1	4	2	3	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27709681G>A	ENST00000261588.4	+	9	992	c.973G>A	c.(973-975)Gca>Aca	p.A325T	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	325										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACCCCTGTCTGCAACCCGCAA	0.572													58	207					0	0	0	0	A	27709681	G	A	27709681	3	1	408	1	0	0	0	0	1	0	0	0	8234	1319	46	4	1007	4	KIAA0556	16	27709681	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	229021	27709681	62645072	3068	80886											
EIF3C	8663	broad.mit.edu	37	chr16	28734556	28734556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctaagaagaagcacgAcaggaaatccaagcgcctgg	17	3	11	10	2	0	2	0	0	0	2	1	4	1	3	2	2	3	2	2	2	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28734556A>G	ENST00000331666.6	+	9	1034	c.848A>G	c.(847-849)gAc>gGc	p.D283G	EIF3C_ENST00000395587.1_Missense_Mutation_p.D283G|EIF3C_ENST00000566501.1_Missense_Mutation_p.D283G|EIF3C_ENST00000564243.1_Missense_Mutation_p.D273G|EIF3C_ENST00000566866.1_Missense_Mutation_p.D283G			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	283						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						AAGAAGCACGACAGGAAATCC	0.572													12	626					0	0	0	0	G	28734556	A	G	28734556	3	3	408	1	0	0	0	0	1	0	0	0	5050	275	10	5	3703	5	EIF3C	16	28734556	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1024875	28734556	61620197	3069	80887											
ATXN2L	11273	broad.mit.edu	37	chr16	28845883	28845883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcagccccgccgatgAtgcaggccgccgcggctgct	5	5	13	18	5	1	1	1	1	0	0	1	2	1	1	6	2	4	3	6	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28845883A>G	ENST00000336783.4	+	18	2469	c.2302A>G	c.(2302-2304)Atg>Gtg	p.M768V	ATXN2L_ENST00000564304.1_Missense_Mutation_p.M774V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.M768V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.M768V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.M768V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.M768V|ATXN2L_ENST00000395547.2_Missense_Mutation_p.M768V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	768						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCGCCGATGATGCAGGCCGC	0.667													59	179					0	0	0	0	G	28845883	A	G	28845883	3	3	408	1	0	0	0	0	1	0	0	0	1216	333	12	5	2372	5	ATXN2L	16	28845883	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	111327	28845883	61508870	3070	80888											
TUFM	7284	broad.mit.edu	37	chr16	28856724	28856724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagccgcattgatggtgaTaccccgagctcgctcctccg	7	9	11	14	4	0	3	0	3	0	0	3	4	2	3	5	1	3	3	5	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28856724T>C	ENST00000313511.3	-	3	463	c.325A>G	c.(325-327)Atc>Gtc	p.I109V		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	106						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TTGATGGTGATACCCCGAGCT	0.552													53	160					0	0	0	0	C	28856724	T	C	28856724	3	2	408	1	0	0	0	0	1	0	0	0	16867	1406	49	5	1074	5	TUFM	16	28856724	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	10841	28856724	61498029	3071	80889											
SH2B1	25970	broad.mit.edu	37	chr16	28880417	28880417	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaatgcctgagcccaGggtgagaagcctgacttctg	10	8	12	11	0	1	4	0	3	1	2	2	5	2	4	4	1	3	0	4	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28880417G>C	ENST00000337120.5	+	3	4423	c.1133_splice	c.e3+1	p.G378_splice	SH2B1_ENST00000322610.8_Splice_Site_p.G378_splice|SH2B1_ENST00000545570.1_Splice_Site_p.G68_splice|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Splice_Site_p.G42_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G378_splice|SH2B1_ENST00000395532.4_Splice_Site_p.G378_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	378	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G378*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGAGCCCAGGGTGAGAAGC	0.562													6	120					0	0	0	0	C	28880417	G	C	28880417	5	2	408	1	0	0	0	0	0	0	1	0	14314	1014	35	4	1142	4	SH2B1	16	28880417	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	23693	28880417	61474336	3072	80890											
ATP2A1	487	broad.mit.edu	37	chr16	28890060	28890060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggtgagtgagaccacggGcctcaccccggaccaagtta	9	6	14	12	2	1	2	1	2	0	1	1	4	1	3	5	4	0	1	5	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28890060G>A	ENST00000395503.4	+	1	252	c.68G>A	c.(67-69)gGc>gAc	p.G23D	ATP2A1_ENST00000357084.3_Missense_Mutation_p.G23D	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	23					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAGACCACGGGCCTCACCCCG	0.582													8	30					0	0	0	0	A	28890060	G	A	28890060	3	1	408	1	0	0	0	0	1	0	0	0	1140	1203	42	4	70	4	ATP2A1	16	28890060	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	9643	28890060	61464693	3073	80891											
ATP2A1	487	broad.mit.edu	37	chr16	28914656	28914656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccccagatgatcttcaagCtccgggccctggacctcacc	7	8	9	17	1	3	2	2	1	1	1	4	3	4	3	6	2	2	1	6	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28914656C>T	ENST00000395503.4	+	21	3059	c.2875C>T	c.(2875-2877)Ctc>Ttc	p.L959F	ATP2A1_ENST00000536376.1_Missense_Mutation_p.L834F|ATP2A1_ENST00000357084.3_Missense_Mutation_p.L959F	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	959					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GATCTTCAAGCTCCGGGCCCT	0.622													5	137					0	0	0	0	T	28914656	C	T	28914656	3	4	408	1	0	0	0	0	1	0	0	0	1140	797	28	4	2957	4	ATP2A1	16	28914656	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	24596	28914656	61440097	3074	80892											
KIF22	3835	broad.mit.edu	37	chr16	29810350	29810350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaatccgagaagactgcCgggggaatatcctgattccg	10	9	13	9	3	0	3	0	1	0	2	3	5	3	4	4	3	1	1	4	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:29810350C>T	ENST00000561482.1	+	5	1037	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	KIF22_ENST00000160827.4_Missense_Mutation_p.R202W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	202	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGACTGCCGGGGGAATAT	0.547													34	164					0	0	0	0	T	29810350	C	T	29810350	3	4	408	1	0	0	0	0	1	0	0	0	8341	643	23	1	622	1	KIF22	16	29810350	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	895694	29810350	60544403	3075	80893											
MAZ	4150	broad.mit.edu	37	chr16	29820065	29820065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagctctgcaacaaaggtAcatgccgagggctgccggga	10	6	15	10	2	1	1	0	1	1	0	1	3	1	2	2	3	6	4	2	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:29820065A>G	ENST00000569978.1	+	2	376	c.85A>G	c.(85-87)Aca>Gca	p.T29A	MAZ_ENST00000568282.1_Intron|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000322945.6_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Intron			P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	428					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CAACAAAGGTACATGCCGAGG	0.607													5	29					0	0	0	0	G	29820065	A	G	29820065	3	3	408	1	0	0	0	0	1	0	0	0	9409	406	14	5		5	MAZ	16	29820065	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	9715	29820065	60534688	3076	80894											
CD2BP2	10421	broad.mit.edu	37	chr16	30364596	30364596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaccagaccatctcccCgcgactctgcttctaaaata	11	9	4	17	2	3	1	0	0	3	1	5	2	4	1	5	0	1	1	5	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30364596C>T	ENST00000305596.3	-	6	996	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CD2BP2_ENST00000569466.1_Missense_Mutation_p.R274Q	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	274					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ACCATCTCCCCGCGACTCTGC	0.572													40	122					0	0	0	0	T	30364596	C	T	30364596	3	4	408	1	0	0	0	0	1	0	0	0	3024	652	23	1	212	1	CD2BP2	16	30364596	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	544531	30364596	59990157	3077	80895											
CD2BP2	10421	broad.mit.edu	37	chr16	30365563	30365563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccccatcatcatcatcCtcctcctcatcgctatccaa	9	10	2	20	1	4	0	4	0	0	0	9	1	8	0	7	0	0	1	7	0	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30365563C>A	ENST00000305596.3	-	3	334	c.159G>T	c.(157-159)gaG>gaT	p.E53D	CD2BP2_ENST00000569466.1_Missense_Mutation_p.E53D	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	53					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	p.E53D(2)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CATCATCATCCTCCTCCTCAT	0.517													97	324					3.71036e-49	3.93822e-49	1	0	A	30365563	C	A	30365563	3	1	408	1	0	0	0	0	1	0	0	0	3024	680	24	4	886	4	CD2BP2	16	30365563	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	967	30365563	59989190	3078	80896											
ZNF48	197407	broad.mit.edu	37	chr16	30410127	30410127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactctgctgcggccacataAcccacctggcccagtaccca	9	6	7	19	1	1	0	0	0	1	0	1	0	1	0	5	2	4	2	5	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30410127A>G	ENST00000320159.2	+	2	1932	c.1556A>G	c.(1555-1557)aAc>aGc	p.N519S		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	519	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CGGCCACATAACCCACCTGGC	0.657													56	143					0	0	0	0	G	30410127	A	G	30410127	3	3	408	1	0	0	0	0	1	0	0	0	18029	43	2	5	1562	5	ZNF48	16	30410127	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	44564	30410127	59944626	3079	80897											
ITGAL	3683	broad.mit.edu	37	chr16	30495265	30495265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgcggccaaagacatcatCcgctacatcatcggggtagg	11	7	12	11	3	2	1	2	0	0	1	4	2	3	1	2	4	2	2	2	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30495265C>T	ENST00000356798.6	+	8	1020	c.840C>T	c.(838-840)atC>atT	p.I280I	ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I197I|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	280	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AAGACATCATCCGCTACATCA	0.582													84	215					0	0	0	0	T	30495265	C	T	30495265	2	4	408	1	0	0	0	0	0	0	0	1	7939	845	30	2		2	ITGAL	16	30495265	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	85138	30495265	59859488	3080	80898											
ZNF768	79724	broad.mit.edu	37	chr16	30536854	30536855	+	Frame_Shift_Ins	INS	-	-	A																															tcccctgtgggctgctccccINSaaacccctgagtgaaggagt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30536854_30536855insA	ENST00000380412.5	-	2	781_782	c.606_607insT	c.(604-609)ttgggafs	p.L202fs	ZNF768_ENST00000562803.1_Frame_Shift_Ins_p.L171fs	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	202					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCTGCTCCCCAAACCCCTGAG	0.564													58	176	---	---	---	---					A	30536855	-	A	30536854	7	5	408	1	0	1	1	0	0	0	0	0	18235	594	21	0	1019	0	ZNF768	16	30536854	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	41589	30536854	59817899	3081	80899											
ZNF764	92595	broad.mit.edu	37	chr16	30566842	30566842	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgtggcgccgcaggtcCgaggggtaggcgaaggcgcg	6	3	20	12	8	0	0	0	0	0	0	1	2	1	0	2	6	0	3	2	6	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30566842C>T	ENST00000395091.2	-	3	1212	c.897G>A	c.(895-897)tcG>tcA	p.S299S	ZNF764_ENST00000252797.2_Silent_p.S300S|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCGCAGGTCCGAGGGGTAGG	0.726													9	21					0	0	0	0	T	30566842	C	T	30566842	2	4	408	1	0	0	0	0	0	0	0	1	18232	639	23	1		1	ZNF764	16	30566842	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	29988	30566842	59787911	3082	80900											
SRCAP	10847	broad.mit.edu	37	chr16	30732158	30732158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctcagcccagcccaccCctggcccagtcccccaagtg	7	5	8	21	0	1	0	1	0	1	0	3	0	2	0	7	1	3	1	7	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30732158C>A	ENST00000262518.4	+	20	3497	c.3112C>A	c.(3112-3114)Cct>Act	p.P1038T	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1038T|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1038T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1038	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGCCCACCCCTGGCCCAGT	0.667													31	138					2.08457e-15	2.18432e-15	1	0	A	30732158	C	A	30732158	3	1	408	1	0	0	0	0	1	0	0	0	15225	623	22	4	3182	4	SRCAP	16	30732158	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	165316	30732158	59622595	3083	80901											
SRCAP	10847	broad.mit.edu	37	chr16	30735661	30735661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctccatcgtctactccagGaacctctttagcctcagctt	7	12	7	15	1	3	0	1	0	2	0	6	1	5	1	4	2	4	2	4	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30735661G>A	ENST00000262518.4	+	25	5301	c.4916G>A	c.(4915-4917)gGa>gAa	p.G1639E	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1577E|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1481E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1639	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTACTCCAGGAACCTCTTTA	0.577													39	134					0	0	0	0	A	30735661	G	A	30735661	3	1	408	1	0	0	0	0	1	0	0	0	15225	1174	41	2	5006	2	SRCAP	16	30735661	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3503	30735661	59619092	3084	80902											
ZNF629	23361	broad.mit.edu	37	chr16	30794696	30794696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccgcactcggtgcagcggTatggcttctcgcccgcgtgg	3	9	14	15	6	1	0	0	0	1	0	4	0	2	0	2	4	2	4	2	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30794696T>C	ENST00000262525.4	-	3	1160	c.953A>G	c.(952-954)tAc>tGc	p.Y318C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTGCAGCGGTATGGCTTCTC	0.627													37	108					0	0	0	0	C	30794696	T	C	30794696	3	2	408	1	0	0	0	0	1	0	0	0	18148	1638	57	5	1660	5	ZNF629	16	30794696	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	59035	30794696	59560057	3085	80903											
ZNF629	23361	broad.mit.edu	37	chr16	30794875	30794875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacttgtagggcttctcGccggtgtgggatcgctggtg	3	11	16	11	4	1	0	0	0	1	0	3	1	1	1	2	4	0	4	2	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30794875G>A	ENST00000262525.4	-	3	981	c.774C>T	c.(772-774)ggC>ggT	p.G258G		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGCTTCTCGCCGGTGTGGG	0.622													37	101					0	0	0	0	A	30794875	G	A	30794875	2	1	408	1	0	0	0	0	0	0	0	1	18148	1074	38	1		1	ZNF629	16	30794875	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	179	30794875	59559878	3086	80904											
HSD3B7	80270	broad.mit.edu	37	chr16	30997480	30997480	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggctgggctggtagacgtgTttggcagggccagtcccaag	6	8	17	10	2	0	1	0	0	0	1	1	1	1	1	2	5	0	5	2	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30997480T>C	ENST00000262520.6	+	3	567	c.277T>C	c.(277-279)Ttt>Ctt	p.F93L	HSD3B7_ENST00000297679.5_Missense_Mutation_p.F93L|HSD3B7_ENST00000353250.5_Missense_Mutation_p.F93L|AC135048.1_ENST00000602217.1_Silent_p.K18K	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	93					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGTAGACGTGTTTGGCAGGGC	0.622													18	33					0	0	0	0	C	30997480	T	C	30997480	3	2	408	1	0	0	0	0	1	0	0	0	7442	1725	60	5	283	5	HSD3B7	16	30997480	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	202605	30997480	59357273	3087	80905											
HSD3B7	80270	broad.mit.edu	37	chr16	30999363	30999363	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgctgaacccctacacGctggccgtggccaacaccac	8	5	8	20	2	0	1	0	1	0	0	0	1	0	1	7	2	4	2	7	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30999363G>A	ENST00000297679.5	+	7	1062	c.969G>A	c.(967-969)acG>acA	p.T323T	HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	323					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACCCCTACACGCTGGCCGTGG	0.642													20	60					0	0	0	0	A	30999363	G	A	30999363	2	1	408	1	0	0	0	0	0	0	0	1	7442	1074	38	1		1	HSD3B7	16	30999363	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1883	30999363	59355390	3088	80906											
TRIM72	493829	broad.mit.edu	37	chr16	31235598	31235598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcggagcagaaggcgcCgccggccggggaggacccgc	6	2	19	14	6	0	1	0	0	0	1	1	4	0	4	4	6	2	2	4	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31235598C>T	ENST00000322122.3	+	7	1240	c.956C>T	c.(955-957)cCg>cTg	p.P319L		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	319	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CAGAAGGCGCCGCCGGCCGGG	0.706													7	31					0	0	0	0	T	31235598	C	T	31235598	3	4	408	1	0	0	0	0	1	0	0	0	16640	652	23	1	978	1	TRIM72	16	31235598	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	236235	31235598	59119155	3089	80907											
ITGAD	3681	broad.mit.edu	37	chr16	31435825	31435825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagacgaggtctacaatgCcattcccatcatcatgggca	13	8	9	11	1	3	2	2	0	1	2	4	3	4	2	2	2	2	1	2	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31435825C>T	ENST00000389202.2	+	29	3348	c.3299C>T	c.(3298-3300)gCc>gTc	p.A1100V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1100					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCTACAATGCCATTCCCATC	0.512													27	85					0	0	0	0	T	31435825	C	T	31435825	3	4	408	1	0	0	0	0	1	0	0	0	7937	739	26	4	3413	4	ITGAD	16	31435825	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	200227	31435825	58918928	3090	80908											
SLC5A2	6524	broad.mit.edu	37	chr16	31497177	31497177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgcctctacctgtctgTgctctcccttttcctgtaca	4	15	5	17	1	3	0	0	0	3	0	6	0	5	0	5	0	3	2	5	0	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31497177T>C	ENST00000330498.3	+	4	450	c.431T>C	c.(430-432)gTg>gCg	p.V144A		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	144					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TACCTGTCTGTGCTCTCCCTT	0.597													16	57					0	0	0	0	C	31497177	T	C	31497177	3	2	408	1	0	0	0	0	1	0	0	0	14753	1696	59	5	445	5	SLC5A2	16	31497177	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	61352	31497177	58857576	3091	80909											
SLC5A2	6524	broad.mit.edu	37	chr16	31500266	31500266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtggtgcaggcggcacaggGcgggcagctcttcgattaca	7	7	16	11	4	1	0	0	0	1	0	2	1	1	0	0	5	3	4	0	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31500266G>A	ENST00000330498.3	+	11	1365	c.1346G>A	c.(1345-1347)gGc>gAc	p.G449D		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	449					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCGGCACAGGGCGGGCAGCTC	0.662													7	81					0	0	0	0	A	31500266	G	A	31500266	3	1	408	1	0	0	0	0	1	0	0	0	14753	1203	42	4	1388	4	SLC5A2	16	31500266	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3089	31500266	58854487	3092	80910											
SLC5A2	6524	broad.mit.edu	37	chr16	31501677	31501677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgccagtgcctgctctggTtttgtggaatgagcagaggt	6	12	14	9	1	1	2	0	1	1	1	2	3	2	3	3	3	3	3	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31501677T>C	ENST00000330498.3	+	14	1859	c.1840T>C	c.(1840-1842)Ttt>Ctt	p.F614L	SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000567994.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	614					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CCTGCTCTGGTTTTGTGGAAT	0.652													3	22					0	0	0	0	C	31501677	T	C	31501677	3	2	408	1	0	0	0	0	1	0	0	0	14753	1725	60	5	1894	5	SLC5A2	16	31501677	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1411	31501677	58853076	3093	80911											
C16orf58	64755	broad.mit.edu	37	chr16	31508199	31508199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccttggctgacacgtcagCcatgttgttcctccgagcct	5	12	10	14	2	1	1	1	1	0	0	4	2	4	1	5	1	2	3	5	1	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31508199C>T	ENST00000327237.2	-	6	712	c.673G>A	c.(673-675)Gct>Act	p.A225T	C16orf58_ENST00000430477.2_Missense_Mutation_p.A83T|C16orf58_ENST00000570164.1_Missense_Mutation_p.A225T|C16orf58_ENST00000567994.1_Missense_Mutation_p.A180T			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	225						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GACACGTCAGCCATGTTGTTC	0.642													3	26					0	0	0	0	T	31508199	C	T	31508199	3	4	408	1	0	0	0	0	1	0	0	0	1835	739	26	4	765	4	C16orf58	16	31508199	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	6522	31508199	58846554	3094	80912											
ITFG1	81533	broad.mit.edu	37	chr16	47494827	47494827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggtgccccaggcctcggCcccaaagagctcggccgtga	8	4	14	15	3	0	2	0	1	0	1	2	2	0	2	6	4	2	1	6	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:47494827C>T	ENST00000320640.6	-	1	358	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	ITFG1_ENST00000544001.2_Intron	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	44						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CAGGCCTCGGCCCCAAAGAGC	0.687													8	18					0	0	0	0	T	47494827	C	T	47494827	3	4	408	1	0	0	0	0	1	0	0	0	7922	739	26	4	1780	4	ITFG1	16	47494827	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	15986628	47494827	42859926	3095	80913											
ABCC12	94160	broad.mit.edu	37	chr16	48173142	48173142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccagaatgaaaaaggCgtacgccgcacaaaagacca	16	2	11	12	3	0	3	0	1	0	2	0	3	0	3	4	2	1	2	4	2	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:48173142C>T	ENST00000311303.3	-	5	1108	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	ABCC12_ENST00000416054.1_Missense_Mutation_p.A255T|ABCC12_ENST00000448542.1_Missense_Mutation_p.A255T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	255	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGAAAAAGGCGTACGCCGCA	0.473													5	163					0	0	0	0	T	48173142	C	T	48173142	3	4	408	1	0	0	0	0	1	0	0	0	52	768	27	1	3416	1	ABCC12	16	48173142	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	678315	48173142	42181611	3096	80914											
N4BP1	9683	broad.mit.edu	37	chr16	48596173	48596173	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgactcctagccatgacCacagcctcagcacttcctct	9	10	6	16	0	2	2	1	2	1	0	4	2	4	2	5	0	3	1	5	0	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:48596173C>A	ENST00000262384.3	-	2	617	c.381G>T	c.(379-381)gtG>gtT	p.V127V	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	127					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAGCCATGACCACAGCCTCAG	0.438													16	53					1.5739e-10	1.63252e-10	1	0	A	48596173	C	A	48596173	2	1	408	1	0	0	0	0	0	0	0	1	10179	581	21	4		4	N4BP1	16	48596173	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	423031	48596173	41758580	3097	80915											
ZNF423	23090	broad.mit.edu	37	chr16	49670391	49670391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtgtaggccgccccaCagatgtcacagccgtacatg	9	7	11	14	2	1	1	1	0	0	1	1	1	1	1	5	2	2	2	5	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:49670391C>T	ENST00000561648.1	-	4	2725	c.2672G>A	c.(2671-2673)tGt>tAt	p.C891Y	ZNF423_ENST00000562871.1_Missense_Mutation_p.C831Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.C774Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.C891Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.C831Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.C774Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.C831Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	891					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCCGCCCCACAGATGTCACA	0.622													30	99					0	0	0	0	T	49670391	C	T	49670391	3	4	408	1	0	0	0	0	1	0	0	0	17993	478	17	4	1202	4	ZNF423	16	49670391	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1074218	49670391	40684362	3098	80916											
ADCY7	113	broad.mit.edu	37	chr16	50332907	50332907	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctacccacgcccggaactgCgtgaagatggggctggacat	9	6	13	13	3	0	2	0	1	0	1	0	4	0	4	3	4	3	1	3	4	3	1	rs142241553		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:50332907C>A	ENST00000394697.2	+	8	1381	c.1041C>A	c.(1039-1041)tgC>tgA	p.C347*	ADCY7_ENST00000254235.3_Nonsense_Mutation_p.C347*|ADCY7_ENST00000566433.2_Nonsense_Mutation_p.C347*|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Nonsense_Mutation_p.C347*|ADCY7_ENST00000537579.1_Nonsense_Mutation_p.C347*			P51828	ADCY7_HUMAN	adenylate cyclase 7	347	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCCGGAACTGCGTGAAGATGG	0.657													24	63					1.75199e-13	1.82818e-13	1	0	A	50332907	C	A	50332907	4	1	408	1	0	0	0	0	0	1	0	0	299	776	27	3	1067	3	ADCY7	16	50332907	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	662516	50332907	40021846	3099	80917											
ADCY7	113	broad.mit.edu	37	chr16	50346906	50346906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaaagaagggctggagTgcctacgcctgctcaatgag	12	7	12	10	1	2	2	2	1	0	1	2	3	2	3	2	2	4	2	2	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:50346906T>C	ENST00000394697.2	+	22	3050	c.2710T>C	c.(2710-2712)Tgc>Cgc	p.C904R	ADCY7_ENST00000254235.3_Missense_Mutation_p.C904R			P51828	ADCY7_HUMAN	adenylate cyclase 7	904	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGGGCTGGAGTGCCTACGCCT	0.567													12	61					0	0	0	0	C	50346906	T	C	50346906	3	2	408	1	0	0	0	0	1	0	0	0	299	1696	59	5	2792	5	ADCY7	16	50346906	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	13999	50346906	40007847	3100	80918											
SNX20	124460	broad.mit.edu	37	chr16	50707482	50707482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggcgcatagtagcgatgGccctcccgggcctgcaggcg	7	5	16	13	4	0	1	0	0	0	1	1	2	1	1	3	4	2	3	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:50707482G>A	ENST00000330943.4	-	4	957	c.786C>T	c.(784-786)ggC>ggT	p.G262G	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	262					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						AGTAGCGATGGCCCTCCCGGG	0.721													14	45					0	0	0	0	A	50707482	G	A	50707482	2	1	408	1	0	0	0	0	0	0	0	1	14980	1190	42	4		4	SNX20	16	50707482	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	360576	50707482	39647271	3101	80919											
CYLD	1540	broad.mit.edu	37	chr16	50815236	50815236	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccctgaagaaggcgctgtTtgtgaaactgaagagctgca	11	9	13	8	1	0	5	0	3	0	2	0	5	0	5	1	1	4	4	1	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:50815236T>C	ENST00000540145.1	+	10	2013	c.1598T>C	c.(1597-1599)tTt>tCt	p.F533S	CYLD_ENST00000569418.1_Missense_Mutation_p.F530S|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.F530S|CYLD_ENST00000564326.1_Missense_Mutation_p.F530S|CYLD_ENST00000427738.3_Missense_Mutation_p.F533S|CYLD_ENST00000311559.9_Missense_Mutation_p.F533S|CYLD_ENST00000398568.2_Missense_Mutation_p.F530S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	533	CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGGCGCTGTTTGTGAAACTG	0.473			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				22	44					0	0	0	0	C	50815236	T	C	50815236	3	2	408	1	0	0	0	0	1	0	0	0	4175	1841	64	5	1628	5	CYLD	16	50815236	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	107754	50815236	39539517	3102	80920											
TOX3	27324	broad.mit.edu	37	chr16	52473205	52473206	+	Frame_Shift_Del	DEL	GA	GA	-																															tatttgcgactggtgctgctGagaggctggctgggggctcc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:52473205_52473206delGA	ENST00000219746.9	-	7	1946_1947	c.1662_1663delTC	c.(1660-1665)tcagfs	p.SQ554fs	TOX3_ENST00000407228.3_Frame_Shift_Del_p.SQ549fs	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	554	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGTGCTGCTGAGAGGCTGGCT	0.55													7	52	---	---	---	---					-	52473206	GA	-	52473205	7	5	408	1	0	1	0	1	0	0	0	0	16474	1299	45	0	71	0	TOX3	16	52473205	Frame_Shift_Del	DEL	GA	TCGA-F7-A624-01A-22D-A30E-08	1657969	52473205	37881548	3103	80921											
CHD9	80205	broad.mit.edu	37	chr16	53191364	53191364	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctgatatggctcagactCagttgcaaagtcaggctcgg	9	11	11	10	1	4	2	3	1	1	1	5	2	4	2	0	3	1	4	0	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53191364C>T	ENST00000566029.1	+	2	1572	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.Q455*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.Q455*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.Q455*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	455					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGCTCAGACTCAGTTGCAAAG	0.418													7	61					0	0	0	0	T	53191364	C	T	53191364	4	4	408	1	0	0	0	0	0	1	0	0	3361	827	29	2	1365	2	CHD9	16	53191364	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	718159	53191364	37163389	3104	80922											
CHD9	80205	broad.mit.edu	37	chr16	53330939	53330939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggtttttgaccctgacaGaggccaatttgattggacaa	11	12	11	7	0	0	4	0	3	0	1	0	5	0	5	2	3	0	1	2	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53330939G>C	ENST00000566029.1	+	30	5791	c.5582G>C	c.(5581-5583)aGa>aCa	p.R1861T	CHD9_ENST00000564845.1_Missense_Mutation_p.R1861T|CHD9_ENST00000447540.1_Missense_Mutation_p.R1861T|CHD9_ENST00000398510.3_Missense_Mutation_p.R1861T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1861					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GACCCTGACAGAGGCCAATTT	0.353													35	113					0	0	0	0	C	53330939	G	C	53330939	3	2	408	1	0	0	0	0	1	0	0	0	3361	942	33	2	5696	2	CHD9	16	53330939	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	139575	53330939	37023814	3105	80923											
CHD9	80205	broad.mit.edu	37	chr16	53331006	53331006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaactgatgatagtttGgaaaaatatttgtacgcatt	17	13	8	3	1	0	3	0	2	0	1	0	4	0	4	0	1	2	3	0	1	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53331006G>C	ENST00000566029.1	+	30	5858	c.5649G>C	c.(5647-5649)ttG>ttC	p.L1883F	CHD9_ENST00000564845.1_Missense_Mutation_p.L1883F|CHD9_ENST00000447540.1_Missense_Mutation_p.L1883F|CHD9_ENST00000398510.3_Missense_Mutation_p.L1883F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1883					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATAGTTTGGAAAAATATT	0.378													32	113					0	0	0	0	C	53331006	G	C	53331006	3	2	408	1	0	0	0	0	1	0	0	0	3361	1339	47	4	5763	4	CHD9	16	53331006	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	67	53331006	37023747	3106	80924											
FTO	79068	broad.mit.edu	37	chr16	53859936	53859936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatctgctcactccggtatCtcgcatcctcattggtaatc	8	13	7	13	2	4	1	2	0	2	1	8	1	6	1	2	2	1	4	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53859936C>T	ENST00000471389.1	+	3	506	c.284C>T	c.(283-285)tCt>tTt	p.S95F	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	95	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTCCGGTATCTCGCATCCTC	0.493													23	76					0	0	0	0	T	53859936	C	T	53859936	3	4	408	1	0	0	0	0	1	0	0	0	6134	913	32	2	294	2	FTO	16	53859936	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	528930	53859936	36494817	3107	80925											
FTO	79068	broad.mit.edu	37	chr16	53907751	53907751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccggttcacaacctcggTttagttccacccaccgagtg	7	10	10	14	3	1	0	1	0	0	0	3	1	2	0	5	3	1	3	5	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53907751T>A	ENST00000471389.1	+	5	1171	c.949T>A	c.(949-951)Ttt>Att	p.F317I	FTO_ENST00000394647.3_Missense_Mutation_p.F21I	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	317	Alpha-ketoglutarate binding.|Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACAACCTCGGTTTAGTTCCAC	0.403													6	89					0	0	0	0	A	53907751	T	A	53907751	3	1	408	1	0	0	0	0	1	0	0	0	6134	1725	60	5	967	5	FTO	16	53907751	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	47815	53907751	36447002	3108	80926											
IRX5	10265	broad.mit.edu	37	chr16	54967744	54967744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagctagacctgtgcaaaGactctccctatgaattgaag	12	10	8	11	0	2	4	1	2	1	2	3	4	2	4	2	0	2	2	2	0	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:54967744G>A	ENST00000394636.4	+	3	1748	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	IRX5_ENST00000320990.5_Missense_Mutation_p.D470N|IRX5_ENST00000560154.1_Missense_Mutation_p.D251N|IRX5_ENST00000558597.1_Missense_Mutation_p.D405N			P78411	IRX5_HUMAN	iroquois homeobox 5	471					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCTGTGCAAAGACTCTCCCTA	0.468													31	119					0	0	0	0	A	54967744	G	A	54967744	3	1	408	1	0	0	0	0	1	0	0	0	7900	942	33	2	1421	2	IRX5	16	54967744	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1059993	54967744	35387009	3109	80927											
CES1	1066	broad.mit.edu	37	chr16	55846878	55846878	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtaggggacagtgtggaaAttcctttcagcttgaagctc	10	12	12	7	0	1	1	1	1	0	0	3	3	2	3	1	3	2	3	1	3	3	4	rs142672064	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:55846878A>G	ENST00000422046.2	-	9	1301	c.1020T>C	c.(1018-1020)aaT>aaC	p.N340N	CES1_ENST00000360526.3_Silent_p.N341N|CES1_ENST00000361503.4_Silent_p.N340N			P23141	EST1_HUMAN	carboxylesterase 1	340					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CAGTGTGGAAATTCCTTTCAG	0.512													36	79					0	0	0	0	G	55846878	A	G	55846878	2	3	408	1	0	0	0	0	0	0	0	1	3298	98	4	5		5	CES1	16	55846878	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	879134	55846878	34507875	3110	80928											
AMFR	267	broad.mit.edu	37	chr16	56441904	56441904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaagccaaggtgtgcAttccgtgggtgtagccggtg	8	9	15	9	2	0	1	0	1	0	0	1	1	1	1	4	3	3	2	4	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56441904A>G	ENST00000290649.5	-	4	848	c.638T>C	c.(637-639)aTg>aCg	p.M213T		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	213					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CAAGGTGTGCATTCCGTGGGT	0.537													21	43					0	0	0	0	G	56441904	A	G	56441904	3	3	408	1	0	0	0	0	1	0	0	0	571	217	8	5	1337	5	AMFR	16	56441904	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	595026	56441904	33912849	3111	80929											
OGFOD1	55239	broad.mit.edu	37	chr16	56500103	56500103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagctggaagggcgccGgattgccttcatcctgtacc	7	10	13	11	2	1	2	1	2	0	0	2	4	2	4	4	3	3	2	4	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56500103G>A	ENST00000566157.1	+	5	611	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	OGFOD1_ENST00000568397.1_Missense_Mutation_p.R163Q	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	163	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAAGGGCGCCGGATTGCCTTC	0.522													6	73					0	0	0	0	A	56500103	G	A	56500103	3	1	408	1	0	0	0	0	1	0	0	0	10912	1116	39	1	506	1	OGFOD1	16	56500103	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	58199	56500103	33854650	3112	80930											
BBS2	583	broad.mit.edu	37	chr16	56519603	56519603	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatatccatttagcaagTctctattaaggtcatagagt	12	17	6	6	0	2	1	1	0	1	1	4	1	3	1	1	1	1	1	1	1	7	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56519603T>A	ENST00000245157.5	-	16	2378	c.1958A>T	c.(1957-1959)gAc>gTc	p.D653V	BBS2_ENST00000568104.1_Missense_Mutation_p.D607V	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	653					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATTTAGCAAGTCTCTATTAAG	0.378									Bardet-Biedl syndrome				34	126					0	0	0	0	A	56519603	T	A	56519603	3	1	408	1	0	0	0	0	1	0	0	0	1342	1667	58	5	215	5	BBS2	16	56519603	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	19500	56519603	33835150	3113	80931											
MT1A	4489	broad.mit.edu	37	chr16	56672672	56672672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccccaactgctcctgcGccactggtaagggatgctag	8	8	12	13	1	0	0	0	0	0	0	1	2	1	2	4	3	4	3	4	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56672672G>A	ENST00000290705.8	+	1	95	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	8	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						CTGCTCCTGCGCCACTGGTAA	0.537													39	143					0	0	0	0	A	56672672	G	A	56672672	3	1	408	1	0	0	0	0	1	0	0	0	9967	1087	38	1	24	1	MT1A	16	56672672	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	153069	56672672	33682081	3114	80932											
CPNE2	221184	broad.mit.edu	37	chr16	57153532	57153532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgcccttggtgtccctGtgtgatggggacatggagaa	8	10	15	8	0	0	2	0	1	0	1	1	4	1	3	2	4	1	0	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:57153532G>A	ENST00000535318.2	+	8	1012	c.651G>A	c.(649-651)ctG>ctA	p.L217L	CPNE2_ENST00000537605.1_Silent_p.L115L|CPNE2_ENST00000290776.8_Silent_p.L217L|CPNE2_ENST00000565874.1_Silent_p.L217L			Q96FN4	CPNE2_HUMAN	copine II	217	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TGGTGTCCCTGTGTGATGGGG	0.627													3	26					0	0	0	0	A	57153532	G	A	57153532	2	1	408	1	0	0	0	0	0	0	0	1	3842	1364	48	4		4	CPNE2	16	57153532	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	480860	57153532	33201221	3115	80933											
RSPRY1	89970	broad.mit.edu	37	chr16	57255241	57255241	+	Frame_Shift_Del	DEL	G	G	-																															gcaccttttgtgtggatgccGgggtatggtactatgaagta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:57255241delG	ENST00000537866.1	+	10	1948	c.1075delG	c.(1075-1077)ggfs	p.G359fs	RSPRY1_ENST00000394420.4_Frame_Shift_Del_p.G359fs			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	359	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGTGGATGCCGGGGTATGGTA	0.488													46	144	---	---	---	---					-	57255241	G	-	57255241	7	5	408	1	0	1	0	1	0	0	0	0	13798	1116	39	0	1109	0	RSPRY1	16	57255241	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	101709	57255241	33099512	3116	80934											
CSNK2A2	1459	broad.mit.edu	37	chr16	58220736	58220736	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaatcttaacctctcGttttatcttctttttcttca	7	20	2	12	1	6	1	1	0	5	1	8	1	7	1	2	0	1	1	2	0	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:58220736G>A	ENST00000262506.3	-	3	424	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	81	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TTAACCTCTCGTTTTATCTTC	0.378													23	79					0	0	0	0	A	58220736	G	A	58220736	4	1	408	1	0	0	0	0	0	1	0	0	3990	1153	40	1	847	1	CSNK2A2	16	58220736	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	965495	58220736	32134017	3117	80935											
GOT2	2806	broad.mit.edu	37	chr16	58752199	58752199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagaacactctgctctggTattttctaaagagaaaaaca	17	10	7	7	0	3	3	0	0	3	3	3	4	3	3	0	1	3	2	0	1	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:58752199T>C	ENST00000245206.5	-	6	731	c.603A>G	c.(601-603)atA>atG	p.I201M	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.I158M	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	201					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCTGCTCTGGTATTTTCTAAA	0.463													11	80					0	0	0	0	C	58752199	T	C	58752199	3	2	408	1	0	0	0	0	1	0	0	0	6629	1628	57	5	709	5	GOT2	16	58752199	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	531463	58752199	31602554	3118	80936											
CMTM1	113540	broad.mit.edu	37	chr16	66603929	66603930	+	Frame_Shift_Ins	INS	-	-	T																															tctggaaatctgcattgtcgINSttttttttattctaatatat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:66603929_66603930insT	ENST00000379500.2	+	2	590_591	c.523_524insT	c.(523-525)tttfs	p.F175fs	CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	58					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347													44	157	---	---	---	---					T	66603930	-	T	66603929	7	5	408	1	0	1	1	0	0	0	0	0	3612	1145	40	0	529	0	CMTM1	16	66603929	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	7851730	66603929	23750824	3119	80937											
FBXL8	55336	broad.mit.edu	37	chr16	67195837	67195837	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtggcacgacacaaaaaTcaggtgagcctgctcctcca	11	7	10	13	2	1	1	1	1	0	0	3	2	3	1	3	2	2	2	3	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67195837T>A	ENST00000258200.3	+	2	326	c.149T>A	c.(148-150)aTc>aAc	p.I50N	FBXL8_ENST00000519917.1_Missense_Mutation_p.I50N|FBXL8_ENST00000521920.1_Missense_Mutation_p.I50N|FBXL8_ENST00000518148.1_Missense_Mutation_p.I50N			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	50							protein binding			endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		GACACAAAAATCAGGTGAGCC	0.632													5	15					0	0	0	0	A	67195837	T	A	67195837	3	1	408	1	0	0	0	0	1	0	0	0	5770	1435	50	5	151	5	FBXL8	16	67195837	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	591908	67195837	23158916	3120	80938											
FBXL8	55336	broad.mit.edu	37	chr16	67197515	67197515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcaaccctgtgcgcgcTcgaggtgcgcgcagccgctt	4	6	14	17	8	0	0	0	0	0	0	1	1	0	0	3	1	4	4	3	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67197515T>C	ENST00000258200.3	+	3	1094	c.917T>C	c.(916-918)cTc>cCc	p.L306P	FBXL8_ENST00000519917.1_Missense_Mutation_p.L306P|HSF4_ENST00000264009.8_5'UTR|RP11-5A19.5_ENST00000580114.1_Silent_p.A76A|HSF4_ENST00000421453.1_5'UTR			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	306							protein binding			endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CTGTGCGCGCTCGAGGTGCGC	0.721													8	15					0	0	0	0	C	67197515	T	C	67197515	3	2	408	1	0	0	0	0	1	0	0	0	5770	1551	54	5	923	5	FBXL8	16	67197515	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1678	67197515	23157238	3121	80939											
HSF4	3299	broad.mit.edu	37	chr16	67200484	67200484	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagtgtctctttgggccActtcaggcggggccgagcaa	7	9	13	12	2	2	0	1	0	1	0	4	1	3	0	3	4	1	1	3	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67200484A>G	ENST00000264009.8	+	8	1550	c.585A>G	c.(583-585)ccA>ccG	p.P195P	HSF4_ENST00000584272.1_Silent_p.P195P|HSF4_ENST00000521374.1_Silent_p.P195P|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000421453.1_Silent_p.P195P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	195	Hydrophobic repeat HR-A/B.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTTTGGGCCACTTCAGGCGG	0.562													13	49					0	0	0	0	G	67200484	A	G	67200484	2	3	408	1	0	0	0	0	0	0	0	1	7448	146	6	5		5	HSF4	16	67200484	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2969	67200484	23154269	3122	80940											
FHOD1	29109	broad.mit.edu	37	chr16	67263713	67263713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagacttgcggttgccgCgggaacgcttgcgttcccta	7	10	12	12	5	0	1	0	0	0	1	1	2	1	2	2	2	5	3	2	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67263713C>T	ENST00000258201.4	-	21	3642	c.3395G>A	c.(3394-3396)cGc>cAc	p.R1132H	FHOD1_ENST00000567687.1_Missense_Mutation_p.R711H	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1132					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCGGTTGCCGCGGGAACGCTT	0.562													49	153					0	0	0	0	T	67263713	C	T	67263713	3	4	408	1	0	0	0	0	1	0	0	0	5927	768	27	1	107	1	FHOD1	16	67263713	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	63229	67263713	23091040	3123	80941											
FHOD1	29109	broad.mit.edu	37	chr16	67264368	67264368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcgcacttcacgggccGcctgcggggtgtagcccagg	5	7	16	13	4	1	1	1	1	0	0	1	1	1	1	3	4	3	2	3	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67264368G>A	ENST00000258201.4	-	19	3147	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V	FHOD1_ENST00000567687.1_Missense_Mutation_p.A546V	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	967	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTCACGGGCCGCCTGCGGGGT	0.592													34	99					0	0	0	0	A	67264368	G	A	67264368	3	1	408	1	0	0	0	0	1	0	0	0	5927	1087	38	1	610	1	FHOD1	16	67264368	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	655	67264368	23090385	3124	80942											
SLC9A5	6553	broad.mit.edu	37	chr16	67305080	67305080	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaccgctacctcccactgGtgcatccagttcaacagagg	9	7	10	15	1	1	1	1	0	0	1	3	1	3	1	4	3	3	4	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67305080G>A	ENST00000299798.11	+	16	2723	c.2658G>A	c.(2656-2658)tgG>tgA	p.W886*		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	886					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCTCCCACTGGTGCATCCAGT	0.642													18	36					0	0	0	0	A	67305080	G	A	67305080	4	1	408	1	0	0	0	0	0	1	0	0	14805	1270	44	4	2720	4	SLC9A5	16	67305080	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	40712	67305080	23049673	3125	80943											
PLEKHG4	25894	broad.mit.edu	37	chr16	67319354	67319354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaacctggagaagctgcGggacttccactgccacttct	8	9	11	13	1	1	1	0	0	1	1	2	3	2	2	3	3	4	2	3	3	2	2	rs150434910		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67319354G>A	ENST00000360461.5	+	13	4892	c.2357G>A	c.(2356-2358)cGg>cAg	p.R786Q	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R786Q|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R786Q|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R705Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	786	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R786L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GAGAAGCTGCGGGACTTCCAC	0.632													5	152					0	0	0	0	A	67319354	G	A	67319354	3	1	408	1	0	0	0	0	1	0	0	0	12143	1116	39	1	2407	1	PLEKHG4	16	67319354	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	14274	67319354	23035399	3126	80944											
LRRC36	55282	broad.mit.edu	37	chr16	67381419	67381419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccgaactgtacgtgaagGtgagagaaaagctgccaagc	14	6	13	8	2	0	4	0	3	0	1	0	6	0	4	2	1	5	2	2	1	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67381419G>A	ENST00000329956.6	+	4	432	c.413G>A	c.(412-414)gGt>gAt	p.G138D	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.G17D|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.G17D|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	138	LRRCT.									endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GTACGTGAAGGTGAGAGAAAA	0.368													4	81					0	0	0	0	A	67381419	G	A	67381419	3	1	408	1	0	0	0	0	1	0	0	0	9054	1261	44	4	455	4	LRRC36	16	67381419	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	62065	67381419	22973334	3127	80945											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472484	67472484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggcgctgggcgatacAttcagcgatccacacgatgt	8	8	14	11	5	1	0	1	0	0	0	2	3	2	0	1	3	2	1	1	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67472484A>G	ENST00000290949.3	-	8	1153	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.C258R|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.C376R|ATP6V0D1_ENST00000567694.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	335					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGGGCGATACATTCAGCGATC	0.522													30	65					0	0	0	0	G	67472484	A	G	67472484	3	3	408	1	0	0	0	0	1	0	0	0	1177	217	8	5	56	5	ATP6V0D1	16	67472484	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	91065	67472484	22882269	3128	80946											
CTCF	10664	broad.mit.edu	37	chr16	67645477	67645477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcagagaaagtggttggtAatatgaagcctccaaagcca	15	8	11	7	0	0	2	0	1	0	1	1	3	1	2	3	2	3	3	3	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67645477A>G	ENST00000264010.4	+	3	1186	c.742A>G	c.(742-744)Aat>Gat	p.N248D	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	248					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTGGTTGGTAATATGAAGCC	0.393													31	96					0	0	0	0	G	67645477	A	G	67645477	3	3	408	1	0	0	0	0	1	0	0	0	4032	362	13	5	744	5	CTCF	16	67645477	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	172993	67645477	22709276	3129	80947											
ACD	65057	broad.mit.edu	37	chr16	67691737	67691737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaaggcagaaccatcaCgatgcctctttgggggttcc	9	9	12	11	1	2	1	1	0	1	1	3	3	3	2	3	4	2	2	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67691737C>T	ENST00000219251.8	-	11	1806	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	ACD_ENST00000393919.4_Missense_Mutation_p.R495H	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	495					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGAACCATCACGATGCCTCTT	0.582													24	68					0	0	0	0	T	67691737	C	T	67691737	3	4	408	1	0	0	0	0	1	0	0	0	135	536	19	1	158	1	ACD	16	67691737	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	46260	67691737	22663016	3130	80948											
RANBP10	57610	broad.mit.edu	37	chr16	67761766	67761766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctgtggcagcctggttgCccccgcagagctgccgccga	4	9	13	15	3	1	1	0	0	1	1	1	2	1	1	5	2	4	4	5	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67761766C>T	ENST00000317506.3	-	12	1623	c.1508G>A	c.(1507-1509)gGc>gAc	p.G503D	RANBP10_ENST00000602677.1_Missense_Mutation_p.G533D|RANBP10_ENST00000536251.1_Missense_Mutation_p.G274D|RANBP10_ENST00000448631.2_Missense_Mutation_p.G477D|RANBP10_ENST00000411657.2_Missense_Mutation_p.G416D	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	503										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCCTGGTTGCCCCCGCAGAG	0.597													14	41					0	0	0	0	T	67761766	C	T	67761766	3	4	408	1	0	0	0	0	1	0	0	0	13108	739	26	4	366	4	RANBP10	16	67761766	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	70029	67761766	22592987	3131	80949											
DPEP3	64180	broad.mit.edu	37	chr16	68014034	68014034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccgcatcagggcctgcgCgcgaccccgaaggtccaggg	7	4	14	16	5	1	0	1	0	0	0	3	2	3	0	5	3	1	1	5	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:68014034C>T	ENST00000268793.4	-	1	698	c.325G>A	c.(325-327)Gcg>Acg	p.A109T	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	84					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGGGCCTGCGCGCGACCCCGA	0.672													18	67					0	0	0	0	T	68014034	C	T	68014034	3	4	408	1	0	0	0	0	1	0	0	0	4751	768	27	1	1256	1	DPEP3	16	68014034	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	252268	68014034	22340719	3132	80950											
NFATC3	4775	broad.mit.edu	37	chr16	68200872	68200872	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacatcccacagcccagTggaaaagtcctttctctgca	11	9	7	14	0	1	0	0	0	1	0	4	1	3	1	3	1	3	2	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:68200872T>C	ENST00000349223.5	+	5	1952	c.1728T>C	c.(1726-1728)agT>agC	p.S576S	NFATC3_ENST00000346183.3_Silent_p.S576S|NFATC3_ENST00000329524.4_Silent_p.S576S|NFATC3_ENST00000575270.1_Silent_p.S576S|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	576	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CACAGCCCAGTGGAAAAGTCC	0.398													29	110					0	0	0	0	C	68200872	T	C	68200872	2	2	408	1	0	0	0	0	0	0	0	1	10434	1693	59	5		5	NFATC3	16	68200872	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	186838	68200872	22153881	3133	80951											
CDH1	999	broad.mit.edu	37	chr16	68867195	68867195	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcccttcttctttagaaTctgaaagcggctgatactga	9	15	8	9	1	3	4	0	3	3	1	4	4	4	4	1	1	2	1	1	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:68867195T>C	ENST00000261769.5	+	16	2633	c.2442T>C	c.(2440-2442)aaT>aaC	p.N814N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.N753N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	814	Required for binding alpha, beta and gamma catenins.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TTCTTTAGAATCTGAAAGCGG	0.488			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				4	80					0	0	0	0	C	68867195	T	C	68867195	2	2	408	1	0	0	0	0	0	0	0	1	3124	1432	50	5		5	CDH1	16	68867195	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	666323	68867195	21487558	3134	80952											
COG8	84342	broad.mit.edu	37	chr16	69364834	69364834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggcgtggctcctcggCgggaggctctggtgctggag	3	8	18	12	3	1	0	0	0	1	0	4	2	3	2	2	7	1	3	2	7	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:69364834C>T	ENST00000306875.4	-	5	1861	c.1747G>A	c.(1747-1749)Gcc>Acc	p.A583T		NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	583					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGCTCCTCGGCGGGAGGCTCT	0.721													3	5					0	0	0	0	T	69364834	C	T	69364834	3	4	408	1	0	0	0	0	1	0	0	0	3694	768	27	1	95	1	COG8	16	69364834	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	497639	69364834	20989919	3135	80953											
WWP2	11060	broad.mit.edu	37	chr16	69874094	69874094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcgttgtctcaggcggaGagctgacaattttcctggac	8	10	13	10	2	1	2	1	1	1	1	3	4	2	3	1	3	2	3	1	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:69874094G>A	ENST00000359154.2	+	5	507	c.406G>A	c.(406-408)Gag>Aag	p.E136K	WWP2_ENST00000542271.1_Missense_Mutation_p.E20K|WWP2_ENST00000569174.1_Missense_Mutation_p.E136K|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.E136K|WWP2_ENST00000356003.2_Missense_Mutation_p.E136K	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	136				E -> K (in Ref. 1; AAC51325).	entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCAGGCGGAGAGCTGACAAT	0.552													4	137					0	0	0	0	A	69874094	G	A	69874094	3	1	408	1	0	0	0	0	1	0	0	0	17512	943	33	2	420	2	WWP2	16	69874094	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	509260	69874094	20480659	3136	80954											
WWP2	11060	broad.mit.edu	37	chr16	69874117	69874117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgacaattttcctggacggGccaactgttgatctgggaaa	10	11	11	9	1	1	2	0	2	1	0	2	4	2	4	2	3	1	1	2	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:69874117G>A	ENST00000359154.2	+	5	530	c.429G>A	c.(427-429)ggG>ggA	p.G143G	WWP2_ENST00000542271.1_Silent_p.G27G|WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000356003.2_Silent_p.G143G	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	143					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGGACGGGCCAACTGTTG	0.592													4	133					0	0	0	0	A	69874117	G	A	69874117	2	1	408	1	0	0	0	0	0	0	0	1	17512	1190	42	4		4	WWP2	16	69874117	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	23	69874117	20480636	3137	80955											
DDX19B	11269	broad.mit.edu	37	chr16	70365775	70365776	+	Frame_Shift_Del	DEL	GT	GT	-																															aggttttggtgaccaccaacGtgtgtgcccgcggtgagcag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:70365775_70365776delGT	ENST00000288071.6	+	10	1419_1420	c.1174_1175delGT	c.(1174-1176)gfs	p.V392fs	DDX19B_ENST00000451014.3_Frame_Shift_Del_p.V366fs|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000355992.3_Frame_Shift_Del_p.V361fs|DDX19B_ENST00000563392.1_Frame_Shift_Del_p.V283fs|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Frame_Shift_Del_p.V397fs|DDX19B_ENST00000568625.1_Frame_Shift_Del_p.V283fs|DDX19B_ENST00000393657.2_Frame_Shift_Del_p.V283fs	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	392	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GACCACCAACGTGTGTGCCCGC	0.599											OREG0023914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	75	---	---	---	---					-	70365776	GT	-	70365775	7	5	408	1	0	1	0	1	0	0	0	0	4379	1145	40	0	1212	0	DDX19B	16	70365775	Frame_Shift_Del	DEL	GT	TCGA-F7-A624-01A-22D-A30E-08	491658	70365775	19988978	3138	80956											
FUK	197258	broad.mit.edu	37	chr16	70497604	70497604	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacccagagaagcgtgTgggcagcggaggagccaccc	10	2	18	11	2	0	1	0	0	0	1	0	6	0	5	3	5	3	1	3	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:70497604T>A	ENST00000288078.6	+	3	393	c.161T>A	c.(160-162)gTg>gAg	p.V54E	FUK_ENST00000428974.2_Missense_Mutation_p.V54E|FUK_ENST00000378912.2_Missense_Mutation_p.V54E|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	54						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GAGAAGCGTGTGGGCAGCGGA	0.642													27	61					0	0	0	0	A	70497604	T	A	70497604	3	1	408	1	0	0	0	0	1	0	0	0	6144	1696	59	5	167	5	FUK	16	70497604	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	131829	70497604	19857149	3139	80957											
HP	3240	broad.mit.edu	37	chr16	72093018	72093018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccttttgtttcaggagtgTacaccttaaacaatgagaag	12	13	9	7	0	1	1	1	1	0	1	1	3	1	2	2	1	3	2	2	1	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72093018T>C	ENST00000355906.5	+	6	431	c.373T>C	c.(373-375)Tac>Cac	p.Y125H	HP_ENST00000398131.2_Missense_Mutation_p.Y66H|HP_ENST00000569639.1_Missense_Mutation_p.Y66H|HP_ENST00000570083.1_Missense_Mutation_p.Y66H|HP_ENST00000565574.1_Intron|HP_ENST00000562526.1_Missense_Mutation_p.Y66H|HPR_ENST00000356967.5_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	125	Sushi 2.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTCAGGAGTGTACACCTTAAA	0.443													16	63					0	0	0	0	C	72093018	T	C	72093018	3	2	408	1	0	0	0	0	1	0	0	0	7377	1638	57	5	395	5	HP	16	72093018	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1595414	72093018	18261735	3140	80958											
ZFHX3	463	broad.mit.edu	37	chr16	72821729	72821729	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcagagggacttcaggtgGctcctcgctgcctcctcgtc	6	9	12	14	2	1	1	1	0	0	1	6	2	3	2	3	3	2	3	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72821729G>A	ENST00000268489.5	-	10	11118	c.10446C>T	c.(10444-10446)agC>agT	p.S3482S	ZFHX3_ENST00000397992.5_Silent_p.S2568S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3482					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTTCAGGTGGCTCCTCGCTG	0.642													24	88					0	0	0	0	A	72821729	G	A	72821729	2	1	408	1	0	0	0	0	0	0	0	1	17729	1194	42	4		4	ZFHX3	16	72821729	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	728711	72821729	17533024	3141	80959											
ZFHX3	463	broad.mit.edu	37	chr16	72827996	72827996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaggatttggtttcagttGctattcccgttgcactgtcg	7	15	11	8	2	1	1	1	0	0	1	3	2	2	2	1	2	2	5	1	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72827996G>T	ENST00000268489.5	-	9	9257	c.8585C>A	c.(8584-8586)gCa>gAa	p.A2862E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1948E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2862					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTTTCAGTTGCTATTCCCGT	0.498													4	171					0.00909568	0.00915862	1	0	T	72827996	G	T	72827996	3	4	408	1	0	0	0	0	1	0	0	0	17729	1319	46	4	2534	4	ZFHX3	16	72827996	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6267	72827996	17526757	3142	80960											
ZFHX3	463	broad.mit.edu	37	chr16	72828177	72828177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccaccttaatggaggaagGgcttagaagagttctgggtg	10	11	14	6	0	1	2	0	0	1	2	2	4	2	4	2	4	0	2	2	4	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72828177G>T	ENST00000268489.5	-	9	9076	c.8404C>A	c.(8404-8406)Cct>Act	p.P2802T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1888T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2802					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGGAGGAAGGGCTTAGAAGA	0.478													7	123					0.0293803	0.0295309	1	0	T	72828177	G	T	72828177	3	4	408	1	0	0	0	0	1	0	0	0	17729	1232	43	4	2715	4	ZFHX3	16	72828177	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	181	72828177	17526576	3143	80961											
ZFHX3	463	broad.mit.edu	37	chr16	72828213	72828213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgacaattccatggtttTactcacaggtgagaggggga	10	10	15	6	0	1	2	1	2	0	1	2	4	2	3	1	5	1	1	1	5	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72828213T>C	ENST00000268489.5	-	9	9040	c.8368A>G	c.(8368-8370)Aaa>Gaa	p.K2790E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1876E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2790					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCATGGTTTTACTCACAGGT	0.483													9	118					0	0	0	0	C	72828213	T	C	72828213	3	2	408	1	0	0	0	0	1	0	0	0	17729	1763	61	5	2751	5	ZFHX3	16	72828213	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	36	72828213	17526540	3144	80962											
ZFHX3	463	broad.mit.edu	37	chr16	72829090	72829090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgggaaggactggggctCgactggggtaaggggcactg	8	6	20	7	1	0	0	0	0	0	0	1	3	0	2	0	8	1	4	0	8	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72829090C>T	ENST00000268489.5	-	9	8163	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	ZFHX3_ENST00000397992.5_Silent_p.S1583S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2497					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GACTGGGGCTCGACTGGGGTA	0.632													25	73					0	0	0	0	T	72829090	C	T	72829090	2	4	408	1	0	0	0	0	0	0	0	1	17729	871	31	1		1	ZFHX3	16	72829090	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	877	72829090	17525663	3145	80963											
RFWD3	55159	broad.mit.edu	37	chr16	74695112	74695112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctccacttctgtcaggTcaacagacagttgcggagca	11	8	10	12	1	3	2	2	0	1	2	4	3	4	3	2	2	3	2	2	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:74695112T>C	ENST00000361070.4	-	2	333	c.236A>G	c.(235-237)gAc>gGc	p.D79G	RFWD3_ENST00000571750.1_Missense_Mutation_p.D79G	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	79					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTCTGTCAGGTCAACAGACAG	0.547													35	110					0	0	0	0	C	74695112	T	C	74695112	3	2	408	1	0	0	0	0	1	0	0	0	13343	1667	58	5	2136	5	RFWD3	16	74695112	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1866022	74695112	15659641	3146	80964											
WDR59	79726	broad.mit.edu	37	chr16	74985406	74985406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaacttccccactgccGtctttccacttgtaaaggtc	7	12	7	15	1	1	0	0	0	1	0	4	0	3	0	5	1	3	1	5	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:74985406G>A	ENST00000262144.6	-	4	406	c.276C>T	c.(274-276)gaC>gaT	p.D92D	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	92										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCCACTGCCGTCTTTCCACT	0.502													4	10					0	0	0	0	A	74985406	G	A	74985406	2	1	408	1	0	0	0	0	0	0	0	1	17404	1136	40	1		1	WDR59	16	74985406	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	290294	74985406	15369347	3147	80965											
CHST6	4166	broad.mit.edu	37	chr16	75512863	75512863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgagcccagtgaaggcGtagagcgcacggatttctgc	10	7	14	10	3	1	4	0	2	1	2	1	5	1	5	1	2	3	2	1	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75512863G>A	ENST00000332272.4	-	3	1043	c.864C>T	c.(862-864)taC>taT	p.Y288Y	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.Y288Y	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	288					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGTGAAGGCGTAGAGCGCAC	0.657													20	78					0	0	0	0	A	75512863	G	A	75512863	2	1	408	1	0	0	0	0	0	0	0	1	3437	1140	40	1		1	CHST6	16	75512863	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	527457	75512863	14841890	3148	80966											
CHST5	23563	broad.mit.edu	37	chr16	75563688	75563688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcaggttgaagaagcGcacctccttgagcaccacgt	10	7	10	14	2	0	3	0	2	0	1	1	3	1	3	4	1	3	4	4	1	2	2	rs147059773		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75563688G>A	ENST00000336257.3	-	3	1989	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.R205C	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	199					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGAAGAAGCGCACCTCCTTG	0.677													65	192					0	0	0	0	A	75563688	G	A	75563688	3	1	408	1	0	0	0	0	1	0	0	0	3436	1087	38	1	644	1	CHST5	16	75563688	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	50825	75563688	14791065	3149	80967											
GABARAPL2	11345	broad.mit.edu	37	chr16	75602095	75602095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttgtggataagacagTcccacagtccaggtgagagg	10	9	13	9	0	0	2	0	1	0	2	2	4	2	3	3	3	0	1	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75602095T>C	ENST00000037243.2	+	3	387	c.251T>C	c.(250-252)gTc>gCc	p.V84A	RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000563744.1_Intron|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.V84A|GABARAPL2_ENST00000568455.1_Missense_Mutation_p.V24A	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	84					autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding			lung(1)|ovary(1)	2						GATAAGACAGTCCCACAGTCC	0.463													40	113					0	0	0	0	C	75602095	T	C	75602095	3	2	408	1	0	0	0	0	1	0	0	0	6202	1667	58	5	261	5	GABARAPL2	16	75602095	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38407	75602095	14752658	3150	80968											
TERF2IP	54386	broad.mit.edu	37	chr16	75681828	75681828	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccccaacgggcccacccaTtcctcgactctgttcgtgag	7	8	9	17	3	1	1	0	1	1	0	4	3	2	1	5	1	1	1	5	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75681828T>C	ENST00000300086.4	+	1	145	c.48T>C	c.(46-48)caT>caC	p.H16H		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	16					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GGCCCACCCATTCCTCGACTC	0.652													18	57					0	0	0	0	C	75681828	T	C	75681828	2	2	408	1	0	0	0	0	0	0	0	1	15857	1490	52	5		5	TERF2IP	16	75681828	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	79733	75681828	14672925	3151	80969											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401513	77401513	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgctgtccttttgtacagTacgtgaggatggtgacccgc	6	13	12	10	2	1	2	0	2	1	0	2	3	2	3	2	2	3	3	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:77401513T>C	ENST00000282849.5	-	4	1021	c.603A>G	c.(601-603)gtA>gtG	p.V201V	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	201					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TTTTGTACAGTACGTGAGGAT	0.527													22	83					0	0	0	0	C	77401513	T	C	77401513	2	2	408	1	0	0	0	0	0	0	0	1	263	1625	57	5		5	ADAMTS18	16	77401513	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1719685	77401513	12953240	3152	80970											
CLEC3A	10143	broad.mit.edu	37	chr16	78064610	78064610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcctcaactgggacCgtgcacagcctaacggtggc	7	9	10	15	2	2	0	1	0	1	0	4	1	3	1	4	3	4	1	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:78064610C>T	ENST00000299642.4	+	3	578	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.R156C|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	156	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CAACTGGGACCGTGCACAGCC	0.532													35	73					0	0	0	0	T	78064610	C	T	78064610	3	4	408	1	0	0	0	0	1	0	0	0	3540	652	23	1	476	1	CLEC3A	16	78064610	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	663097	78064610	12290143	3153	80971											
CMIP	80790	broad.mit.edu	37	chr16	81730216	81730216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagatggctggttccagCtctacagccccggaggggtg	8	7	15	11	1	1	1	0	0	1	1	2	2	2	2	3	5	3	4	3	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:81730216C>T	ENST00000537098.3	+	14	1654	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.L434F|CMIP_ENST00000398040.4_Missense_Mutation_p.L375F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	494						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTGGTTCCAGCTCTACAGCCC	0.652													4	52					0	0	0	0	T	81730216	C	T	81730216	3	4	408	1	0	0	0	0	1	0	0	0	3608	797	28	4	1658	4	CMIP	16	81730216	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3665606	81730216	8624537	3154	80972											
PLCG2	5336	broad.mit.edu	37	chr16	81929426	81929426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagtggactgctgggacGggcccgatgggaagccggtc	6	7	18	10	3	0	0	0	0	0	0	1	4	0	3	2	5	2	2	2	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:81929426G>A	ENST00000359376.3	+	13	1301	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	363	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCTGGGACGGGCCCGATGG	0.597													31	94					0	0	0	0	A	81929426	G	A	81929426	3	1	408	1	0	0	0	0	1	0	0	0	12108	1116	39	1	1133	1	PLCG2	16	81929426	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	199210	81929426	8425327	3155	80973											
CDH13	1012	broad.mit.edu	37	chr16	83520084	83520084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcttgccccggtaggcAccacagtgatgcggatgaca	8	9	12	12	2	2	2	0	2	2	0	2	3	2	3	3	3	2	2	3	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:83520084A>G	ENST00000566620.1	+	7	1074	c.784A>G	c.(784-786)Acc>Gcc	p.T262A	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.T223A|CDH13_ENST00000268613.10_Missense_Mutation_p.T309A	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	262	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCGGTAGGCACCACAGTGAT	0.567													16	38					0	0	0	0	G	83520084	A	G	83520084	3	3	408	1	0	0	0	0	1	0	0	0	3128	159	6	5	810	5	CDH13	16	83520084	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1590658	83520084	6834669	3156	80974											
HSDL1	83693	broad.mit.edu	37	chr16	84163829	84163829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccaagatgccaacgtctTtgtccttcagggcttctcga	8	13	8	12	2	3	1	1	0	2	1	5	2	4	1	3	1	3	1	3	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84163829T>C	ENST00000219439.4	-	4	604	c.428A>G	c.(427-429)aAa>aGa	p.K143R	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	143						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						GCCAACGTCTTTGTCCTTCAG	0.473													5	198					0	0	0	0	C	84163829	T	C	84163829	3	2	408	1	0	0	0	0	1	0	0	0	7443	1841	64	5	576	5	HSDL1	16	84163829	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	643745	84163829	6190924	3157	80975											
HSDL1	83693	broad.mit.edu	37	chr16	84163962	84163962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaacttctcctcgttccGactaatcaggattatattga	10	14	6	11	2	2	1	1	1	1	0	5	3	3	2	2	1	2	2	2	1	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84163962G>A	ENST00000219439.4	-	4	471	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	HSDL1_ENST00000434463.3_Missense_Mutation_p.R99W	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	99						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TCCTCGTTCCGACTAATCAGG	0.463													11	181					0	0	0	0	A	84163962	G	A	84163962	3	1	408	1	0	0	0	0	1	0	0	0	7443	1057	37	1	709	1	HSDL1	16	84163962	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	133	84163962	6190791	3158	80976											
ATP2C2	9914	broad.mit.edu	37	chr16	84495409	84495409	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcttcaacgccttgacctgCcgctctcaggtgagacccgg	6	9	10	16	3	3	2	2	2	2	1	4	3	3	2	4	2	2	1	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84495409C>T	ENST00000416219.2	+	26	2747	c.2658C>T	c.(2656-2658)tgC>tgT	p.C886C	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Silent_p.C857C|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	857					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCTTGACCTGCCGCTCTCAGG	0.597													56	137					0	0	0	0	T	84495409	C	T	84495409	2	4	408	1	0	0	0	0	0	0	0	1	1148	747	26	4		4	ATP2C2	16	84495409	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	331447	84495409	5859344	3159	80977											
USP10	9100	broad.mit.edu	37	chr16	84806196	84806196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactccctcctgtcctcgTgctgcacctgaaacgattcg	9	10	7	15	3	0	1	0	1	0	0	5	2	3	1	4	0	4	2	4	0	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84806196T>C	ENST00000219473.7	+	12	2161	c.2048T>C	c.(2047-2049)gTg>gCg	p.V683A	USP10_ENST00000570191.1_Missense_Mutation_p.V687A	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	683					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCTGTCCTCGTGCTGCACCTG	0.443													22	243					0	0	0	0	C	84806196	T	C	84806196	3	2	408	1	0	0	0	0	1	0	0	0	17137	1696	59	5	2094	5	USP10	16	84806196	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	310787	84806196	5548557	3160	80978											
CRISPLD2	83716	broad.mit.edu	37	chr16	84900593	84900593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatgtttggctccaacCgagggtgatgagacccacca	12	7	10	12	1	0	2	0	2	0	1	1	4	1	2	5	2	2	2	5	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84900593C>T	ENST00000262424.5	+	7	1024	c.800C>T	c.(799-801)cCg>cTg	p.P267L	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P267L|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P266L	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	267						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TGGCTCCAACCGAGGGTGATG	0.537													24	77					0	0	0	0	T	84900593	C	T	84900593	3	4	408	1	0	0	0	0	1	0	0	0	3913	652	23	1	822	1	CRISPLD2	16	84900593	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	94397	84900593	5454160	3161	80979											
FOXF1	2294	broad.mit.edu	37	chr16	86544993	86544993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggcggcctggccgccctCggcgtccgcggcgctcaaca	3	4	16	18	8	1	0	1	0	0	0	3	0	2	0	4	6	1	1	4	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:86544993C>T	ENST00000262426.4	+	1	861	c.818C>T	c.(817-819)tCg>tTg	p.S273L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	273					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TGGCCGCCCTCGGCGTCCGCG	0.746													7	13					0	0	0	0	T	86544993	C	T	86544993	3	4	408	1	0	0	0	0	1	0	0	0	6052	893	31	1	820	1	FOXF1	16	86544993	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1644400	86544993	3809760	3162	80980											
JPH3	57338	broad.mit.edu	37	chr16	87678537	87678537	+	Frame_Shift_Del	DEL	C	C	-																															ggcaagcgcaagaacctcatCcccctgcgggccagcaagat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:87678537delC	ENST00000284262.2	+	2	1298	c.1056delC	c.(1054-1056)atfs	p.I352fs		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	352					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGAACCTCATCCCCCTGCGGG	0.662													21	66	---	---	---	---					-	87678537	C	-	87678537	7	5	408	1	0	1	0	1	0	0	0	0	8015	845	30	0	1062	0	JPH3	16	87678537	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	1133544	87678537	2676216	3163	80981											
BANP	54971	broad.mit.edu	37	chr16	88052189	88052189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggactacctcttccaccgcGaggtgcaggctgtgtccaac	7	9	11	14	2	1	0	0	0	1	0	3	2	3	1	4	3	3	2	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:88052189G>A	ENST00000393207.1	+	7	1008	c.787G>A	c.(787-789)Gag>Aag	p.E263K	BANP_ENST00000538234.1_Missense_Mutation_p.E271K|BANP_ENST00000355022.4_Missense_Mutation_p.E232K|BANP_ENST00000393208.2_Missense_Mutation_p.E232K|BANP_ENST00000355163.5_Missense_Mutation_p.E238K|BANP_ENST00000479780.2_Missense_Mutation_p.E232K|BANP_ENST00000286122.7_Missense_Mutation_p.E263K	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	263	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CTTCCACCGCGAGGTGCAGGC	0.652													5	19					0	0	0	0	A	88052189	G	A	88052189	3	1	408	1	0	0	0	0	1	0	0	0	1314	1059	37	1	851	1	BANP	16	88052189	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	373652	88052189	2302564	3164	80982											
ACSF3	197322	broad.mit.edu	37	chr16	89187260	89187260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcgcattgtctcagaaaAcccacagagggaagcctgct	11	7	12	11	1	1	2	1	0	1	2	2	3	1	3	2	2	4	2	2	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89187260A>G	ENST00000317447.4	+	7	1555	c.1178A>G	c.(1177-1179)aAc>aGc	p.N393S	ACSF3_ENST00000406948.3_Missense_Mutation_p.N393S|ACSF3_ENST00000378345.4_Missense_Mutation_p.N128S	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	393					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTCTCAGAAAACCCACAGAGG	0.602													33	329					0	0	0	0	G	89187260	A	G	89187260	3	3	408	1	0	0	0	0	1	0	0	0	176	43	2	5	1196	5	ACSF3	16	89187260	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1135071	89187260	1167493	3165	80983											
ANKRD11	29123	broad.mit.edu	37	chr16	89346399	89346399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccggcggctcctcaGccactacggtggaaacatcc	8	6	12	15	3	1	0	1	0	0	0	3	1	3	1	4	4	4	2	4	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89346399G>A	ENST00000301030.4	-	9	7011	c.6551C>T	c.(6550-6552)gCt>gTt	p.A2184V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A2184V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2184	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGCTCCTCAGCCACTACGGT	0.647													10	55					0	0	0	0	A	89346399	G	A	89346399	3	1	408	1	0	0	0	0	1	0	0	0	639	971	34	4	1460	4	ANKRD11	16	89346399	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	159139	89346399	1008354	3166	80984											
ANKRD11	29123	broad.mit.edu	37	chr16	89348957	89348957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctctccctcggcttgtcGtctccaggtggctccgtgaa	3	11	12	15	4	2	1	0	1	2	0	7	1	3	1	3	3	0	3	3	3	1	1	rs141054850		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89348957G>A	ENST00000301030.4	-	9	4453	c.3993C>T	c.(3991-3993)gaC>gaT	p.D1331D	ANKRD11_ENST00000378330.2_Silent_p.D1331D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1331	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCGGCTTGTCGTCTCCAGGTG	0.592													17	52					0	0	0	0	A	89348957	G	A	89348957	2	1	408	1	0	0	0	0	0	0	0	1	639	1136	40	1		1	ANKRD11	16	89348957	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2558	89348957	1005796	3167	80985											
SPG7	6687	broad.mit.edu	37	chr16	89603315	89603315	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggttgccttttgcaCtgaagatagagaccaccttt	8	13	11	9	0	0	3	0	1	0	2	0	4	0	3	3	2	3	3	3	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89603315C>T	ENST00000341316.2	+	10	1474	c.1467C>T	c.(1465-1467)caC>caT	p.H489H	SPG7_ENST00000268704.2_Intron	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	0					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCCTTTTGCACTGAAGATAGA	0.527													58	213					0	0	0	0	T	89603315	C	T	89603315	2	4	408	1	0	0	0	0	0	0	0	1	15134	564	20	4		4	SPG7	16	89603315	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	254358	89603315	751438	3168	80986											
SPIRE2	84501	broad.mit.edu	37	chr16	89916916	89916916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggcgtcccccgcagcGtgcgcacctttgcccaggcc	4	5	13	19	5	0	0	0	0	0	0	1	1	1	0	6	2	3	2	6	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89916916G>A	ENST00000378247.3	+	3	536	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	SPIRE2_ENST00000393062.2_Missense_Mutation_p.V165M|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	165	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCCCGCAGCGTGCGCACCTT	0.736													5	7					0	0	0	0	A	89916916	G	A	89916916	3	1	408	1	0	0	0	0	1	0	0	0	15162	1145	40	1	503	1	SPIRE2	16	89916916	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	313601	89916916	437837	3169	80987											
DEF8	54849	broad.mit.edu	37	chr16	90015943	90015943	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgggcagacaggacgctgTtgactccgcacaccggggtg	8	7	15	11	3	0	2	0	1	0	1	1	3	1	3	2	4	0	4	2	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:90015943T>C	ENST00000268676.7	+	2	159	c.70T>C	c.(70-72)Ttg>Ctg	p.L24L	DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000567874.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	24					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAGGACGCTGTTGACTCCGCA	0.677													33	95					0	0	0	0	C	90015943	T	C	90015943	2	2	408	1	0	0	0	0	0	0	0	1	4419	1722	60	5		5	DEF8	16	90015943	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	99027	90015943	338810	3170	80988											
C16orf3	750	broad.mit.edu	37	chr16	90095731	90095731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctggagactcctgccccGcagcagaggacagtttcatc	9	7	11	14	1	1	2	1	0	0	2	3	5	2	3	4	2	2	3	4	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:90095731G>A	ENST00000408886.2	-	1	578	c.20C>T	c.(19-21)gCg>gTg	p.A7V	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	7										large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		ctcctgccccgcagcagagga	0.557													30	79					0	0	0	0	A	90095731	G	A	90095731	3	1	408	1	0	0	0	0	1	0	0	0	1825	1087	38	1	337	1	C16orf3	16	90095731	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	79788	90095731	259022	3171	80989											
RNMTL1	55178	broad.mit.edu	37	chr17	695069	695069	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcatgttgaggttcagagTtacgactcggactggacaga	10	10	12	9	2	2	3	2	1	0	2	3	6	2	5	1	3	1	3	1	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:695069T>C	ENST00000304478.4	+	4	1129	c.1023T>C	c.(1021-1023)agT>agC	p.S341S		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	341					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AGGTTCAGAGTTACGACTCGG	0.562													10	107					0	0	0	0	C	695069	T	C	695069	2	2	408	1	0	0	0	0	0	0	0	1	13592	1722	60	5		5	RNMTL1	17	695069	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08		695069	80500141	3172	80990											
CRK	1398	broad.mit.edu	37	chr17	1340185	1340185	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtcctccgcattccacCactgctcttcaggcttgtcc	4	12	7	18	2	2	0	1	0	1	0	6	0	6	0	5	1	1	4	5	1	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1340185C>T	ENST00000300574.2	-	2	646	c.506G>A	c.(505-507)tGg>tAg	p.W169*	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Nonsense_Mutation_p.W169*|CRK_ENST00000574295.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	169	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CGCATTCCACCACTGCTCTTC	0.502													54	136					0	0	0	0	T	1340185	C	T	1340185	4	4	408	1	0	0	0	0	0	1	0	0	3914	595	21	4	416	4	CRK	17	1340185	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	645116	1340185	79855025	3173	80991											
PITPNA	5306	broad.mit.edu	37	chr17	1456400	1456400	+	Frame_Shift_Del	DEL	T	T	-																															cttcgccaccacccgtttcaTttttactggcctcagccaca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1456400delT	ENST00000313486.7	-	3	350	c.95delA	c.(94-96)atfs	p.N32fs	PITPNA_ENST00000539476.1_Frame_Shift_Del_p.N32fs	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	32					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		ACCCGTTTCATTTTTACTGGC	0.517													42	145	---	---	---	---					-	1456400	T	-	1456400	7	5	408	1	0	1	0	1	0	0	0	0	12019	1493	52	0	753	0	PITPNA	17	1456400	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	116215	1456400	79738810	3174	80992											
SLC43A2	124935	broad.mit.edu	37	chr17	1486572	1486572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggtgaaggcgaaggcccGcatggcattagtgatcttct	8	11	14	8	2	2	2	0	2	2	0	2	3	2	2	1	4	0	3	1	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1486572G>A	ENST00000571650.1	-	12	1594	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	SLC43A2_ENST00000412517.3_Missense_Mutation_p.R289W|SLC43A2_ENST00000382147.4_Missense_Mutation_p.R430W|SLC43A2_ENST00000301335.4_Missense_Mutation_p.R426W			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	426					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCGAAGGCCCGCATGGCATTA	0.622													47	98					0	0	0	0	A	1486572	G	A	1486572	3	1	408	1	0	0	0	0	1	0	0	0	14721	1086	38	1	449	1	SLC43A2	17	1486572	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	30172	1486572	79708638	3175	80993											
SLC43A2	124935	broad.mit.edu	37	chr17	1518310	1518310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacgcaatcagcaagcaGgaaaccgcgaagcaggcgct	13	3	12	13	5	1	0	1	0	0	0	1	2	1	1	2	2	5	6	2	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1518310G>A	ENST00000571650.1	-	4	693	c.387C>T	c.(385-387)tcC>tcT	p.S129S	SLC43A2_ENST00000382147.4_Silent_p.S129S|SLC43A2_ENST00000301335.4_Silent_p.S129S			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	129					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TCAGCAAGCAGGAAACCGCGA	0.468													9	42					0	0	0	0	A	1518310	G	A	1518310	2	1	408	1	0	0	0	0	0	0	0	1	14721	987	35	4		4	SLC43A2	17	1518310	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	31738	1518310	79676900	3176	80994											
PRPF8	10594	broad.mit.edu	37	chr17	1554577	1554577	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggtcagcttgtaggcCgtcagtgtacaggagcctgg	6	9	17	9	1	2	0	2	0	0	0	2	1	2	1	2	5	3	3	2	5	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1554577C>A	ENST00000572621.1	-	41	6943	c.6678G>T	c.(6676-6678)acG>acT	p.T2226T	PRPF8_ENST00000304992.6_Silent_p.T2226T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2226	MPN.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTGTAGGCCGTCAGTGTAC	0.617													8	53					1	1	1	0	A	1554577	C	A	1554577	2	1	408	1	0	0	0	0	0	0	0	1	12655	639	23	3		3	PRPF8	17	1554577	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	36267	1554577	79640633	3177	80995											
PRPF8	10594	broad.mit.edu	37	chr17	1579861	1579861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgggtgaggcggcccaGattctttttacaaacagtct	9	10	12	10	2	2	2	0	1	2	1	2	3	2	2	2	3	3	0	2	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1579861G>T	ENST00000572621.1	-	15	2591	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	PRPF8_ENST00000304992.6_Missense_Mutation_p.L776M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	776						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGCGGCCCAGATTCTTTTTA	0.592													6	450					0.217242	0.217435	1	0	T	1579861	G	T	1579861	3	4	408	1	0	0	0	0	1	0	0	0	12655	933	33	2	4793	2	PRPF8	17	1579861	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	25284	1579861	79615349	3178	80996											
PRPF8	10594	broad.mit.edu	37	chr17	1580919	1580919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taataaaggggtaatgccacGcatgaaaaagagccagactc	17	6	10	8	1	0	3	0	1	0	2	1	3	0	3	2	2	2	2	2	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1580919G>A	ENST00000572621.1	-	13	2189	c.1924C>T	c.(1924-1926)Cgt>Tgt	p.R642C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R642C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	642						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTAATGCCACGCATGAAAAAG	0.532													60	104					0	0	0	0	A	1580919	G	A	1580919	3	1	408	1	0	0	0	0	1	0	0	0	12655	1087	38	1	5203	1	PRPF8	17	1580919	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1058	1580919	79614291	3179	80997											
SERPINF2	5345	broad.mit.edu	37	chr17	1648678	1648678	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccacttaccctcctcaagTtgggcaaccaggtacaacca	11	7	6	17	0	1	0	1	0	0	0	2	0	2	0	6	2	4	3	6	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1648678T>C	ENST00000324015.3	+	4	231	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	SERPINF2_ENST00000382061.4_Silent_p.L52L|SERPINF2_ENST00000450523.2_Silent_p.L52L	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	52					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CCTCCTCAAGTTGGGCAACCA	0.672													25	63					0	0	0	0	C	1648678	T	C	1648678	2	2	408	1	0	0	0	0	0	0	0	1	14202	1722	60	5		5	SERPINF2	17	1648678	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	67759	1648678	79546532	3180	80998											
SMG6	23293	broad.mit.edu	37	chr17	2090120	2090120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcctcaggagaggacaGctgagctgcagaggcaaagg	11	5	16	9	0	1	3	1	1	0	2	2	5	2	4	1	5	3	4	1	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2090120G>A	ENST00000544865.1	-	12	3409	c.2899C>T	c.(2899-2901)Ctg>Ttg	p.L967L	SMG6_ENST00000263073.5_Silent_p.L998L|SMG6_ENST00000536871.2_Silent_p.L90L|SMG6_ENST00000354901.4_Silent_p.L90L			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	998					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGAGAGGACAGCTGAGCTGCA	0.597													7	35					0	0	0	0	A	2090120	G	A	2090120	2	1	408	1	0	0	0	0	0	0	0	1	14885	962	34	4		4	SMG6	17	2090120	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	441442	2090120	79105090	3181	80999											
SGSM2	9905	broad.mit.edu	37	chr17	2275762	2275762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaaggacgtgtggagcAagtatcagaaggacaaaaag	17	5	12	7	1	2	1	2	0	0	1	2	4	2	4	1	3	1	2	1	3	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2275762A>G	ENST00000268989.3	+	15	1945	c.1768A>G	c.(1768-1770)Aag>Gag	p.K590E	SGSM2_ENST00000574563.1_Missense_Mutation_p.K545E|SGSM2_ENST00000426855.2_Missense_Mutation_p.K545E	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	545	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGTGTGGAGCAAGTATCAGAA	0.657													13	28					0	0	0	0	G	2275762	A	G	2275762	3	3	408	1	0	0	0	0	1	0	0	0	14310	131	5	5	1826	5	SGSM2	17	2275762	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	185642	2275762	78919448	3182	81000											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2577392	2577392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaggacacagagaatgggTacgtatggtacggccaaatc	14	6	12	9	2	0	1	0	0	0	1	1	3	0	2	1	4	2	3	1	4	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2577392T>C	ENST00000397195.5	+	8	1161	c.710T>C	c.(709-711)gTa>gCa	p.V237A	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.V66A|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	237	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGAGAATGGGTACGTATGGTA	0.448													19	39					0	0	0	0	C	2577392	T	C	2577392	3	2	408	1	0	0	0	0	1	0	0	0	11455	1638	57	5	736	5	PAFAH1B1	17	2577392	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	301630	2577392	78617818	3183	81001											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2898720	2898720	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggagatcatgtttcacgTttccacaaagctgccattta	11	12	8	10	1	2	1	2	0	0	1	3	2	3	1	2	1	2	3	2	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2898720T>C	ENST00000254695.8	+	13	1094	c.1004T>C	c.(1003-1005)gTt>gCt	p.V335A	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V320A|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V316A|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V335A	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	335	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGTTTCACGTTTCCACAAAG	0.587													41	136					0	0	0	0	C	2898720	T	C	2898720	3	2	408	1	0	0	0	0	1	0	0	0	13120	1725	60	5	1054	5	RAP1GAP2	17	2898720	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	321328	2898720	78296490	3184	81002											
TRPV3	162514	broad.mit.edu	37	chr17	3438901	3438901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtgttggtacttggggttGaagaaggcccccttggcgtg	5	12	16	8	2	0	2	0	1	0	1	1	2	0	2	2	5	1	3	2	5	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3438901G>A	ENST00000301365.4	-	7	881	c.750C>T	c.(748-750)ttC>ttT	p.F250F	TRPV3_ENST00000572519.1_Silent_p.F250F|TRPV3_ENST00000576742.1_Silent_p.F250F			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	250						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ACTTGGGGTTGAAGAAGGCCC	0.692													11	31					0	0	0	0	A	3438901	G	A	3438901	2	1	408	1	0	0	0	0	0	0	0	1	16692	1281	45	2		2	TRPV3	17	3438901	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	540181	3438901	77756309	3185	81003											
GSG2	83903	broad.mit.edu	37	chr17	3627784	3627784	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaacgccaagggacagTgtcatctcgatcggcacctc	9	7	9	16	3	2	0	1	0	1	0	6	2	3	1	4	2	1	1	4	2	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3627784T>C	ENST00000325418.4	+	1	574	c.555T>C	c.(553-555)agT>agC	p.S185S	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_5'UTR	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	185					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CAAGGGACAGTGTCATCTCGA	0.682													6	96					0	0	0	0	C	3627784	T	C	3627784	2	2	408	1	0	0	0	0	0	0	0	1	6872	1693	59	5		5	GSG2	17	3627784	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	188883	3627784	77567426	3186	81004											
GSG2	83903	broad.mit.edu	37	chr17	3629040	3629040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcttcattgtgctggAatttgagtttggagggattg	7	15	13	6	0	2	1	1	1	1	0	2	4	2	4	1	3	2	3	1	3	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3629040A>G	ENST00000325418.4	+	1	1830	c.1811A>G	c.(1810-1812)gAa>gGa	p.E604G	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	604	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ATTGTGCTGGAATTTGAGTTT	0.473													49	105					0	0	0	0	G	3629040	A	G	3629040	3	3	408	1	0	0	0	0	1	0	0	0	6872	246	9	5	1813	5	GSG2	17	3629040	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1256	3629040	77566170	3187	81005											
GSG2	83903	broad.mit.edu	37	chr17	3629072	3629072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggattgacttagagcaaAtgcgaaccaagttgtcttcc	12	10	11	8	1	1	2	0	1	1	1	2	5	2	3	2	1	3	2	2	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3629072A>G	ENST00000325418.4	+	1	1862	c.1843A>G	c.(1843-1845)Atg>Gtg	p.M615V	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	615	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CTTAGAGCAAATGCGAACCAA	0.493													9	141					0	0	0	0	G	3629072	A	G	3629072	3	3	408	1	0	0	0	0	1	0	0	0	6872	101	4	5	1845	5	GSG2	17	3629072	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	32	3629072	77566138	3188	81006											
ATP2A3	489	broad.mit.edu	37	chr17	3828691	3828691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagtctgaggtacacaccGgagactccactctgttccca	10	9	8	14	1	3	2	1	1	2	1	5	3	5	2	3	2	1	2	3	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3828691G>A	ENST00000352011.3	-	22	3167	c.3113C>T	c.(3112-3114)cCg>cTg	p.P1038L	ATP2A3_ENST00000359983.3_3'UTR|ATP2A3_ENST00000397043.3_3'UTR|ATP2A3_ENST00000397041.3_3'UTR|ATP2A3_ENST00000397035.3_3'UTR|ATP2A3_ENST00000397039.1_Splice_Site_p.P212_splice|ATP2A3_ENST00000309890.7_3'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	1038					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTACACACCGGAGACTCCAC	0.572													6	30					0	0	0	0	A	3828691	G	A	3828691	3	1	408	1	0	0	0	0	1	0	0	0	1142	1130	39	1	22	1	ATP2A3	17	3828691	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	199619	3828691	77366519	3189	81007											
ANKFY1	51479	broad.mit.edu	37	chr17	4086789	4086789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgtctgcccatccgacAtggtgtcattgatggcggct	6	11	13	11	3	2	1	1	1	1	0	3	2	3	1	2	3	2	2	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:4086789A>G	ENST00000341657.4	-	14	1891	c.1856T>C	c.(1855-1857)aTg>aCg	p.M619T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.M661T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.M619T|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	619						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCATCCGACATGGTGTCATT	0.592													35	86					0	0	0	0	G	4086789	A	G	4086789	3	3	408	1	0	0	0	0	1	0	0	0	626	217	8	5	1704	5	ANKFY1	17	4086789	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	258098	4086789	77108421	3190	81008											
PELP1	27043	broad.mit.edu	37	chr17	4576371	4576371	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtggggcccatgggctGcaggggaggaacccgggggt	6	4	22	9	1	0	0	0	0	0	0	0	2	0	2	2	9	2	3	2	9	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:4576371G>A	ENST00000301396.4	-	16	2572	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	PELP1_ENST00000269230.7_Nonsense_Mutation_p.Q551*|PELP1_ENST00000572293.1_Nonsense_Mutation_p.Q689*|PELP1_ENST00000574876.1_Nonsense_Mutation_p.Q639*|PELP1_ENST00000436683.2_Nonsense_Mutation_p.Q492*			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	639	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCCATGGGCTGCAGGGGAGGA	0.652													15	29					0	0	0	0	A	4576371	G	A	4576371	4	1	408	1	0	0	0	0	0	1	0	0	11796	1328	46	4	1485	4	PELP1	17	4576371	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	489582	4576371	76618839	3191	81009											
ENO3	2027	broad.mit.edu	37	chr17	4859899	4859899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagtctaatggctgggggGtgatggtgagccaccgctct	6	10	15	10	1	3	2	1	2	2	0	3	2	3	2	2	5	1	2	2	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:4859899G>A	ENST00000323997.6	+	10	1231	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	ENO3_ENST00000518175.1_Missense_Mutation_p.V367M|ENO3_ENST00000519584.1_Missense_Mutation_p.V324M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	367					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGCTGGGGGGTGATGGTGAG	0.562													47	125					0	0	0	0	A	4859899	G	A	4859899	3	1	408	1	0	0	0	0	1	0	0	0	5161	1261	44	4	1133	4	ENO3	17	4859899	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	283528	4859899	76335311	3192	81010											
KIF1C	10749	broad.mit.edu	37	chr17	4925505	4925505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagaccattgtcaaacGctgtggtctgcccagcagtg	8	9	12	12	1	2	1	1	0	1	1	3	1	3	1	3	2	3	2	3	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:4925505G>A	ENST00000320785.5	+	22	2486	c.2129G>A	c.(2128-2130)cGc>cAc	p.R710H	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	710					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATTGTCAAACGCTGTGGTCTG	0.647													17	56					0	0	0	0	A	4925505	G	A	4925505	3	1	408	1	0	0	0	0	1	0	0	0	8336	1087	38	1	2207	1	KIF1C	17	4925505	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	65606	4925505	76269705	3193	81011											
ZNF594	84622	broad.mit.edu	37	chr17	5087489	5087489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgtctttggagtttttcGgatgcagcccttgctgactt	5	18	10	8	1	1	1	0	1	1	0	2	3	1	3	1	2	3	3	1	2	0	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5087489G>A	ENST00000399604.4	-	1	203	c.63C>T	c.(61-63)tcC>tcT	p.S21S	ZNF594_ENST00000575779.1_Silent_p.S21S			Q96JF6	ZN594_HUMAN	zinc finger protein 594	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGAGTTTTTCGGATGCAGCCC	0.383													25	57					0	0	0	0	A	5087489	G	A	5087489	2	1	408	1	0	0	0	0	0	0	0	1	18119	1103	39	1		1	ZNF594	17	5087489	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	161984	5087489	76107721	3194	81012											
NUP88	4927	broad.mit.edu	37	chr17	5312177	5312177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttgggactgctgccaatgGcccaaagtcaaatgcaactg	11	9	10	11	0	1	0	1	0	0	0	1	1	1	1	2	2	4	2	2	2	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5312177G>C	ENST00000573584.1	-	5	1242	c.733C>G	c.(733-735)Cca>Gca	p.P245A		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	245					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCTGCCAATGGCCCAAAGTCA	0.408													23	52					0	0	0	0	C	5312177	G	C	5312177	3	2	408	1	0	0	0	0	1	0	0	0	10842	1203	42	4	1544	4	NUP88	17	5312177	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	224688	5312177	75883033	3195	81013											
MIS12	79003	broad.mit.edu	37	chr17	5392753	5392753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagaaaactacagaacAttagagacaatgtggaaaag	20	6	8	7	0	0	3	0	0	0	3	1	5	1	4	1	1	3	0	1	1	8	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5392753A>G	ENST00000381165.3	+	3	1124	c.571A>G	c.(571-573)Att>Gtt	p.I191V	MIS12_ENST00000573759.1_Missense_Mutation_p.I191V	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	191					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ACTACAGAACATTAGAGACAA	0.383													4	174					0	0	0	0	G	5392753	A	G	5392753	3	3	408	1	0	0	0	0	1	0	0	0	9663	217	8	5	573	5	MIS12	17	5392753	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	80576	5392753	75802457	3196	81014											
NLRP1	22861	broad.mit.edu	37	chr17	5405138	5405138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaggctgctgggcactagTatctcctggcgtctctgttg	4	12	13	12	2	2	0	0	0	2	0	4	0	2	0	1	3	1	6	1	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5405138T>C	ENST00000262467.5	-	16	4697	c.4124A>G	c.(4123-4125)tAc>tGc	p.Y1375C		NM_001033053.2	NP_001028225.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	0	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGCACTAGTATCTCCTGGC	0.557													4	62					0	0	0	0	C	5405138	T	C	5405138	3	2	408	1	0	0	0	0	1	0	0	0	10541	1638	57	5	7	5	NLRP1	17	5405138	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	12385	5405138	75790072	3197	81015											
PITPNM3	83394	broad.mit.edu	37	chr17	6361008	6361008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagacagagatgtccttcGtggagccataggccgcactg	9	9	13	10	2	0	2	0	0	0	2	2	4	1	3	3	2	1	2	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6361008G>A	ENST00000262483.8	-	19	2612	c.2525C>T	c.(2524-2526)aCg>aTg	p.T842M	ACKR6_ENST00000421306.3_Missense_Mutation_p.T806M|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					GATGTCCTTCGTGGAGCCATA	0.602													3	16					0	0	0	0	A	6361008	G	A	6361008	3	1	408	1	0	0	0	0	1	0	0	0	12024	1145	40	1	407	1	PITPNM3	17	6361008	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	955870	6361008	74834202	3198	81016											
PITPNM3	83394	broad.mit.edu	37	chr17	6368022	6368022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcccgtacatgaaccGccccaccaggacctgggggc	8	3	15	15	2	0	1	0	1	0	0	0	3	0	2	6	5	2	1	6	5	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6368022G>A	ENST00000262483.8	-	15	2047	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	ACKR6_ENST00000421306.3_Missense_Mutation_p.R618W|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					TACATGAACCGCCCCACCAGG	0.617													17	38					0	0	0	0	A	6368022	G	A	6368022	3	1	408	1	0	0	0	0	1	0	0	0	12024	1086	38	1	988	1	PITPNM3	17	6368022	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	7014	6368022	74827188	3199	81017											
KIAA0753	9851	broad.mit.edu	37	chr17	6524291	6524291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaccttttttggtgacaGtttcttttccaggagagatt	7	19	8	7	0	2	2	1	1	1	1	3	4	3	3	2	2	0	1	2	2	0	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6524291G>T	ENST00000361413.3	-	7	1490	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	378						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTGGTGACAGTTTCTTTTCC	0.373													8	54					0.0381472	0.0383256	1	0	T	6524291	G	T	6524291	3	4	408	1	0	0	0	0	1	0	0	0	8242	1020	36	4	1823	4	KIAA0753	17	6524291	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	156269	6524291	74670919	3200	81018											
FBXO39	162517	broad.mit.edu	37	chr17	6683941	6683941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaatgccagcaccctcCggaccatcaacatcaaatgc	13	6	8	14	1	2	1	2	1	0	1	3	3	3	2	4	1	4	1	4	1	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6683941C>T	ENST00000321535.4	+	2	884	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	252										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CAGCACCCTCCGGACCATCAA	0.542													32	99					0	0	0	0	T	6683941	C	T	6683941	3	4	408	1	0	0	0	0	1	0	0	0	5792	643	23	1	756	1	FBXO39	17	6683941	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	159650	6683941	74511269	3201	81019											
TEKT1	83659	broad.mit.edu	37	chr17	6703349	6703349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaactagccctactattaGcagacagcatcagggcggag	12	7	12	10	1	1	1	1	0	0	1	1	3	1	3	1	3	5	2	1	3	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6703349G>A	ENST00000338694.2	-	8	1383	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	TEKT1_ENST00000535086.1_Silent_p.C272C	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	418					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTACTATTAGCAGACAGCAT	0.527													43	137					0	0	0	0	A	6703349	G	A	6703349	2	1	408	1	0	0	0	0	0	0	0	1	15846	963	34	4		4	TEKT1	17	6703349	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	19408	6703349	74491861	3202	81020											
TEKT1	83659	broad.mit.edu	37	chr17	6704170	6704170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctggtctccaagcgCgtatgagccaccttggctgg	5	11	13	12	2	1	1	0	1	1	0	3	1	2	1	4	3	2	2	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6704170C>T	ENST00000338694.2	-	7	1074	c.945G>A	c.(943-945)acG>acA	p.T315T	TEKT1_ENST00000535086.1_Silent_p.T169T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	315					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCTCCAAGCGCGTATGAGCCA	0.502											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	179					0	0	0	0	T	6704170	C	T	6704170	2	4	408	1	0	0	0	0	0	0	0	1	15846	755	27	1		1	TEKT1	17	6704170	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	821	6704170	74491040	3203	81021											
KCTD11	147040	broad.mit.edu	37	chr17	7256424	7256424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgggtacggagagacaGcgctgctcagggcagaggct	8	5	17	11	3	1	2	1	0	0	2	1	4	1	3	1	4	3	5	1	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7256424G>T	ENST00000333751.3	+	1	1217	c.163G>T	c.(163-165)Gcg>Tcg	p.A55S	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	55					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGGAGAGACAGCGCTGCTCAG	0.667													13	44					4.36969e-10	4.52622e-10	1	0	T	7256424	G	T	7256424	3	4	408	1	0	0	0	0	1	0	0	0	8151	971	34	4	165	4	KCTD11	17	7256424	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	552254	7256424	73938786	3204	81022											
NLGN2	57555	broad.mit.edu	37	chr17	7318086	7318086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatcgcccactttgggggcGaccccgagcgtatcaccatc	8	7	10	16	4	1	0	1	0	0	0	3	2	1	0	4	2	1	1	4	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7318086G>A	ENST00000302926.2	+	4	836	c.763G>A	c.(763-765)Gac>Aac	p.D255N	NLGN2_ENST00000575301.1_Missense_Mutation_p.D255N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	255					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTTTGGGGGCGACCCCGAGCG	0.612													33	96					0	0	0	0	A	7318086	G	A	7318086	3	1	408	1	0	0	0	0	1	0	0	0	10532	1058	37	1	777	1	NLGN2	17	7318086	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	61662	7318086	73877124	3205	81023											
POLR2A	5430	broad.mit.edu	37	chr17	7412422	7412422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgatgtggcccgaatctccCcctggctgttgcgggtggag	4	11	15	11	2	1	1	0	1	1	0	2	3	1	2	3	4	1	2	3	4	1	2	rs140375256		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7412422C>T	ENST00000322644.6	+	21	4024	c.3625C>T	c.(3625-3627)Ccc>Tcc	p.P1209S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1209					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II 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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCGAATCTCCCCCTGGCTGTT	0.542													17	60					0	0	0	0	T	7412422	C	T	7412422	3	4	408	1	0	0	0	0	1	0	0	0	12286	623	22	4	3707	4	POLR2A	17	7412422	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	94336	7412422	73782788	3206	81024											
ATP1B2	482	broad.mit.edu	37	chr17	7558890	7558890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttcgtcatgttccccGccaacggcaacatcgacctc	9	8	7	17	4	1	0	1	0	0	0	5	1	2	0	4	1	3	3	4	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7558890G>A	ENST00000250111.4	+	6	1062	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	219					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CATGTTCCCCGCCAACGGCAA	0.587													29	68					0	0	0	0	A	7558890	G	A	7558890	3	1	408	1	0	0	0	0	1	0	0	0	1137	1087	38	1	677	1	ATP1B2	17	7558890	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	146468	7558890	73636320	3207	81025											
TP53	7157	broad.mit.edu	37	chr17	7577514	7577514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctggagtcttccagtGtgatgatggtgaggatgggc	7	11	16	7	0	1	4	0	4	1	0	2	6	2	6	2	4	0	0	2	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7577514G>A	ENST00000420246.2	-	7	899	c.767C>T	c.(766-768)aCa>aTa	p.T256I	TP53_ENST00000269305.4_Missense_Mutation_p.T256I|TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	256	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(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)		GTCTTCCAGTGTGATGATGGT	0.592		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	55					0	0	0	0	A	7577514	G	A	7577514	3	1	408	1	0	0	0	0	1	0	0	0	16476	1377	48	4	523	4	TP53	17	7577514	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	18624	7577514	73617696	3208	81026											
TP53	7157	broad.mit.edu	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	10	10	12	9	1	0	0	0	0	0	0	0	2	0	2	2	2	3	5	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)		CAGGAACTGTTACACATGTAG	0.572		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)			16	62					0	0	0	0	C	7577566	T	C	7577566	3	2	408	1	0	0	0	0	1	0	0	0	16476	1754	61	5	575	5	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	52	7577566	73617644	3209	81027											
EFNB3	1949	broad.mit.edu	37	chr17	7609005	7609005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgtctgggctcagccTggagcctgtctactggaact	5	11	14	11	0	3	0	1	0	2	0	3	2	3	2	2	4	4	2	2	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7609005T>C	ENST00000226091.2	+	1	486	c.89T>C	c.(88-90)cTg>cCg	p.L30P		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	30					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGGCTCAGCCTGGAGCCTGTC	0.682													19	58					0	0	0	0	C	7609005	T	C	7609005	3	2	408	1	0	0	0	0	1	0	0	0	4993	1580	55	5	91	5	EFNB3	17	7609005	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	31439	7609005	73586205	3210	81028											
DNAH2	146754	broad.mit.edu	37	chr17	7702465	7702465	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggtggagcaggtgccTgagtcatcggacagcctctt	6	8	15	12	2	2	1	1	1	1	0	3	3	2	3	3	4	3	1	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7702465T>C	ENST00000572933.1	+	56	10064	c.8604T>C	c.(8602-8604)ccT>ccC	p.P2868P	DNAH2_ENST00000389173.2_Silent_p.P2868P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2868	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCAGGTGCCTGAGTCATCGG	0.602													18	65					0	0	0	0	C	7702465	T	C	7702465	2	2	408	1	0	0	0	0	0	0	0	1	4639	1567	55	5		5	DNAH2	17	7702465	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	93460	7702465	73492745	3211	81029											
DNAH2	146754	broad.mit.edu	37	chr17	7726882	7726882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactcatgaactcctttgaGcagtaccctcgtgactggca	9	10	10	12	1	1	3	1	3	0	0	3	4	2	4	2	2	3	3	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7726882G>A	ENST00000572933.1	+	74	12725	c.11265G>A	c.(11263-11265)gaG>gaA	p.E3755E	DNAH2_ENST00000389173.2_Silent_p.E3755E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3755					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTCCTTTGAGCAGTACCCTC	0.532													4	99					0	0	0	0	A	7726882	G	A	7726882	2	1	408	1	0	0	0	0	0	0	0	1	4639	962	34	4		4	DNAH2	17	7726882	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	24417	7726882	73468328	3212	81030											
SLC25A35	399512	broad.mit.edu	37	chr17	8197893	8197893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cataggtgcccagtcggatgCcattcatcaggaactggtac	10	9	11	11	1	2	0	2	0	0	0	3	2	2	2	2	4	4	1	2	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8197893C>T	ENST00000380067.2	-	1	277	c.233G>A	c.(232-234)gGc>gAc	p.G78D	SLC25A35_ENST00000396278.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000577745.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000580340.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000579192.1_Missense_Mutation_p.G78D	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	78					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						CAGTCGGATGCCATTCATCAG	0.632													12	68					0	0	0	0	T	8197893	C	T	8197893	3	4	408	1	0	0	0	0	1	0	0	0	14587	739	26	4	678	4	SLC25A35	17	8197893	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	471011	8197893	72997317	3213	81031											
MFSD6L	162387	broad.mit.edu	37	chr17	8701401	8701401	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgggctcccactgctgAcagatgggaatgggaaaggc	10	7	15	9	0	0	2	0	1	0	1	1	4	1	4	1	4	2	3	1	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8701401A>G	ENST00000329805.4	-	1	1266	c.1038T>C	c.(1036-1038)tgT>tgC	p.C346C		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	346						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CCCACTGCTGACAGATGGGAA	0.577													18	61					0	0	0	0	G	8701401	A	G	8701401	2	3	408	1	0	0	0	0	0	0	0	1	9605	273	10	5		5	MFSD6L	17	8701401	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	503508	8701401	72493809	3214	81032											
PIK3R6	146850	broad.mit.edu	37	chr17	8722450	8722450	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgacaacctctgtcacgTtgacattcagacatgtgtgg	10	12	9	10	1	3	3	2	2	1	1	3	3	3	3	1	1	1	1	1	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8722450T>C	ENST00000311434.9	-	19	2182	c.1943A>G	c.(1942-1944)aAc>aGc	p.N648S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	649					platelet activation	cytosol											CTCTGTCACGTTGACATTCAG	0.532													5	13					0	0	0	0	C	8722450	T	C	8722450	3	2	408	1	0	0	0	0	1	0	0	0	11995	1725	60	5	330	5	PIK3R6	17	8722450	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	21049	8722450	72472760	3215	81033											
PIK3R6	146850	broad.mit.edu	37	chr17	8738683	8738683	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcatgcaggtctctggTgtctgctgcgcctgggccgc	2	10	16	13	3	2	0	0	0	2	0	3	0	2	0	2	4	3	3	2	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8738683T>C	ENST00000311434.9	-	8	791	c.552A>G	c.(550-552)acA>acG	p.T184T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	184					platelet activation	cytosol											AGGTCTCTGGTGTCTGCTGCG	0.647													11	24					0	0	0	0	C	8738683	T	C	8738683	2	2	408	1	0	0	0	0	0	0	0	1	11995	1683	59	5		5	PIK3R6	17	8738683	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	16233	8738683	72456527	3216	81034											
NTN1	9423	broad.mit.edu	37	chr17	9066277	9066277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaggagggctactaccGcgacatgggcaagcccatca	11	5	12	13	2	1	0	1	0	0	0	1	2	1	1	2	3	4	3	2	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:9066277G>A	ENST00000173229.2	+	3	1273	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	NTN1_ENST00000538852.1_Missense_Mutation_p.R389H|NTN1_ENST00000546090.1_Missense_Mutation_p.R389H	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	389	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GGCTACTACCGCGACATGGGC	0.662													9	18					0	0	0	0	A	9066277	G	A	9066277	3	1	408	1	0	0	0	0	1	0	0	0	10771	1087	38	1	1172	1	NTN1	17	9066277	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	327594	9066277	72128933	3217	81035											
USP43	124739	broad.mit.edu	37	chr17	9631546	9631546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgccgaggtccaacgtcGcccttcctgctaacagcgaa	9	7	9	16	5	0	0	0	0	0	0	4	2	2	0	4	1	4	1	4	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:9631546G>A	ENST00000570827.2	+	15	2752	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T	USP43_ENST00000285199.6_Missense_Mutation_p.A871T|USP43_ENST00000570475.1_Missense_Mutation_p.A866T			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	871					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTCCAACGTCGCCCTTCCTGC	0.627													14	28					0	0	0	0	A	9631546	G	A	9631546	3	1	408	1	0	0	0	0	1	0	0	0	17170	1087	38	1	2669	1	USP43	17	9631546	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	565269	9631546	71563664	3218	81036											
USP43	124739	broad.mit.edu	37	chr17	9631694	9631694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaactcaaggaaaatgcagGgcaggacatcaagcttccca	16	5	10	10	0	2	0	2	0	0	0	3	3	3	2	1	3	3	3	1	3	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:9631694G>A	ENST00000570827.2	+	15	2900	c.1826G>A	c.(1825-1827)gGg>gAg	p.G609E	USP43_ENST00000285199.6_Missense_Mutation_p.G920E|USP43_ENST00000570475.1_Missense_Mutation_p.G915E			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	920					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAAAATGCAGGGCAGGACATC	0.572													3	27					0	0	0	0	A	9631694	G	A	9631694	3	1	408	1	0	0	0	0	1	0	0	0	17170	1232	43	4	2817	4	USP43	17	9631694	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	148	9631694	71563516	3219	81037											
DHRS7C	201140	broad.mit.edu	37	chr17	9680546	9680546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattccaaacttcccttggaTattattcactaacacgattt	12	15	4	10	1	1	0	1	0	0	0	3	3	3	1	2	1	2	0	2	1	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:9680546T>C	ENST00000330255.4	-	4	550	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.I179V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	180						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTCCCTTGGATATTATTCACT	0.413													7	47					0	0	0	0	C	9680546	T	C	9680546	3	2	408	1	0	0	0	0	1	0	0	0	4534	1406	49	5	412	5	DHRS7C	17	9680546	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	48852	9680546	71514664	3220	81038											
GAS7	8522	broad.mit.edu	37	chr17	10101649	10101649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcccgcggcgaagcgcagcCcctggccgtgccgctccccg	3	3	14	21	8	0	0	0	0	0	0	1	1	1	0	7	2	3	2	7	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10101649C>T	ENST00000432992.2	-	1	219	c.59G>A	c.(58-60)gGg>gAg	p.G20E	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	20	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAAGCGCAGCCCCTGGCCGTG	0.736			T	MLL	AML*								5	43					0	0	0	0	T	10101649	C	T	10101649	3	4	408	1	0	0	0	0	1	0	0	0	6299	623	22	4	1485	4	GAS7	17	10101649	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	421103	10101649	71093561	3221	81039											
MYH13	8735	broad.mit.edu	37	chr17	10216005	10216005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcttggttttctccaaCgatgcgcacttggagttcgc	5	14	10	12	3	2	0	0	0	2	0	4	2	2	1	1	2	3	4	1	2	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10216005C>T	ENST00000418404.3	-	30	4414	c.4251G>A	c.(4249-4251)tcG>tcA	p.S1417S	MYH13_ENST00000570743.1_Silent_p.S1417S|MYH13_ENST00000252172.4_Silent_p.S1417S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1417					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTTCTCCAACGATGCGCACT	0.552													5	24					0	0	0	0	T	10216005	C	T	10216005	2	4	408	1	0	0	0	0	0	0	0	1	10102	523	19	1		1	MYH13	17	10216005	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	114356	10216005	70979205	3222	81040											
MYH1	4619	broad.mit.edu	37	chr17	10411938	10411938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgaaggaggtgtctgTcgccttggggaacatgcact	7	12	14	8	1	2	1	0	1	2	0	3	3	2	3	1	4	2	2	1	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10411938T>C	ENST00000226207.5	-	16	1733	c.1639A>G	c.(1639-1641)Aca>Gca	p.T547A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	547	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGGTGTCTGTCGCCTTGGGG	0.463													4	133					0	0	0	0	C	10411938	T	C	10411938	3	2	408	1	0	0	0	0	1	0	0	0	10099	1667	58	5	4280	5	MYH1	17	10411938	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	195933	10411938	70783272	3223	81041											
MYH1	4619	broad.mit.edu	37	chr17	10415172	10415172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacatcaaagatctcaaagCcagcaatgtccaagacccca	16	6	5	14	0	3	2	3	0	1	2	5	2	4	2	4	0	2	1	4	0	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10415172C>T	ENST00000226207.5	-	14	1494	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	467	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATCTCAAAGCCAGCAATGTC	0.458													53	167					0	0	0	0	T	10415172	C	T	10415172	3	4	408	1	0	0	0	0	1	0	0	0	10099	739	26	4	4527	4	MYH1	17	10415172	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3234	10415172	70780038	3224	81042											
MYH2	4620	broad.mit.edu	37	chr17	10429085	10429085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcaagcatgaggtcCtcgacctcattctgcagccg	9	9	8	15	2	3	1	2	1	1	0	6	2	5	1	4	1	3	2	4	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10429085C>T	ENST00000245503.5	-	31	4680	c.4296G>A	c.(4294-4296)gaG>gaA	p.E1432E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.E1432E|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1432					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATGAGGTCCTCGACCTCAT	0.537													29	107					0	0	0	0	T	10429085	C	T	10429085	2	4	408	1	0	0	0	0	0	0	0	1	10105	680	24	4		4	MYH2	17	10429085	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	13913	10429085	70766125	3225	81043											
MYH3	4621	broad.mit.edu	37	chr17	10549118	10549118	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcccgtcagcttgtagagCccagatttctcttctggggt	5	13	11	12	1	3	2	1	0	2	2	5	2	4	2	2	2	2	3	2	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10549118C>G	ENST00000583535.1	-	12	1134	c.1047G>C	c.(1045-1047)ggG>ggC	p.G349G	MYH3_ENST00000226209.7_Silent_p.G349G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	349	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTTGTAGAGCCCAGATTTCT	0.572													19	70					0	0	0	0	G	10549118	C	G	10549118	2	3	408	1	0	0	0	0	0	0	0	1	10106	726	26	4		4	MYH3	17	10549118	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	120033	10549118	70646092	3226	81044											
SCO1	6341	broad.mit.edu	37	chr17	10600695	10600695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccgcttgccgcgcgcagaActgcctcagcaagactctcg	7	7	10	17	5	2	2	1	0	1	2	4	2	3	2	3	0	4	3	3	0	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10600695A>G	ENST00000255390.5	-	1	190	c.130T>C	c.(130-132)Ttc>Ctc	p.F44L	SCO1_ENST00000577427.1_Missense_Mutation_p.F44L	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	44					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CGCGCGCAGAACTGCCTCAGC	0.692													6	12					0	0	0	0	G	10600695	A	G	10600695	3	3	408	1	0	0	0	0	1	0	0	0	14018	43	2	5	799	5	SCO1	17	10600695	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	51577	10600695	70594515	3227	81045											
DNAH9	1770	broad.mit.edu	37	chr17	11738013	11738013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgaagcagaaaaatgAagatgcagacaaactgattc	19	6	10	6	0	0	7	0	3	0	4	1	7	0	7	0	0	4	3	0	0	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:11738013A>G	ENST00000262442.3	+	49	9373	c.9305A>G	c.(9304-9306)gAa>gGa	p.E3102G	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3102G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3102	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAAAAATGAAGATGCAGAC	0.507													11	29					0	0	0	0	G	11738013	A	G	11738013	3	3	408	1	0	0	0	0	1	0	0	0	4644	246	9	5	9499	5	DNAH9	17	11738013	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1137318	11738013	69457197	3228	81046											
DNAH9	1770	broad.mit.edu	37	chr17	11872631	11872631	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggctgggatcattacAgaggcaaagctgaaggatct	12	8	12	9	0	3	2	2	1	1	1	3	4	3	4	1	4	2	3	1	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:11872631A>G	ENST00000262442.3	+	69	13316	c.13248A>G	c.(13246-13248)acA>acG	p.T4416T	DNAH9_ENST00000454412.2_Silent_p.T4340T|DNAH9_ENST00000396001.2_Silent_p.T728T|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4416					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGATCATTACAGAGGCAAAGC	0.522													29	96					0	0	0	0	G	11872631	A	G	11872631	2	3	408	1	0	0	0	0	0	0	0	1	4644	175	7	5		5	DNAH9	17	11872631	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	134618	11872631	69322579	3229	81047											
ELAC2	60528	broad.mit.edu	37	chr17	12905677	12905677	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagggtggggccctccttCtgaaagagacaaaacacatt	12	8	11	10	0	1	3	0	2	1	1	2	4	2	3	2	3	1	0	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:12905677C>T	ENST00000338034.4	-	14	1458		c.e14-1		ELAC2_ENST00000395962.2_Splice_Site|ELAC2_ENST00000426905.3_Splice_Site	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2						tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGCCCTCCTTCTGAAAGAGAC	0.572													17	44					0	0	0	0	T	12905677	C	T	12905677	5	4	408	1	0	0	0	0	0	0	1	0	5085	927	32	2	1306	2	ELAC2	17	12905677	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1033046	12905677	68289533	3230	81048											
TRIM16	10626	broad.mit.edu	37	chr17	15554474	15554474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctcctggcaacagtcctgGcagatgcactgctgatcagg	8	9	12	12	0	1	2	1	1	0	1	3	2	3	2	2	3	4	5	2	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:15554474G>A	ENST00000455584.2	-	1	493	c.450C>T	c.(448-450)tgC>tgT	p.C150C	TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000336708.7_Silent_p.C150C|TRIM16_ENST00000578237.1_Silent_p.C150C|TRIM16_ENST00000581224.1_Intron																							AACAGTCCTGGCAGATGCACT	0.602													16	89					0	0	0	0	A	15554474	G	A	15554474	2	1	408	1	0	0	0	0	0	0	0	1	16586	1195	42	4		4	TRIM16	17	15554474	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2648797	15554474	65640736	3231	81049											
ADORA2B	136	broad.mit.edu	37	chr17	15878301	15878301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcaggcagcttcagcGcactgagctgatggaccact	8	7	13	13	1	1	2	1	2	0	0	1	3	1	3	2	3	4	5	2	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:15878301G>A	ENST00000304222.2	+	2	976	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	215					activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAGCTTCAGCGCACTGAGCTG	0.517													27	60					0	0	0	0	A	15878301	G	A	15878301	3	1	408	1	0	0	0	0	1	0	0	0	328	1087	38	1	650	1	ADORA2B	17	15878301	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	323827	15878301	65316909	3232	81050											
NCOR1	9611	broad.mit.edu	37	chr17	15935734	15935734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagggagcacatgcaatcGgtgttggtggagtactgctg	9	9	16	7	1	0	1	0	0	0	1	1	3	0	3	0	4	4	5	0	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:15935734G>A	ENST00000268712.3	-	46	7456	c.7199C>T	c.(7198-7200)cCg>cTg	p.P2400L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P2297L|NCOR1_ENST00000395857.3_Missense_Mutation_p.P984L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2400	Interaction with C1D (By similarity).				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			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)		ACATGCAATCGGTGTTGGTGG	0.507													4	136					0	0	0	0	A	15935734	G	A	15935734	3	1	408	1	0	0	0	0	1	0	0	0	10305	1116	39	1	127	1	NCOR1	17	15935734	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	57433	15935734	65259476	3233	81051											
CENPV	201161	broad.mit.edu	37	chr17	16256481	16256481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagtcggcggcggcggCggcggtggcgggagcaacgc	4	2	24	11	9	0	0	0	0	0	0	1	2	0	2	0	9	2	1	0	9	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:16256481C>T	ENST00000299736.4	-	1	332	c.270G>A	c.(268-270)ccG>ccA	p.P90P	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	93	Pro-rich.				cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity			endometrium(1)|large_intestine(2)	3						gcggcggcggcggcggtggcg	0.776													5	12					0	0	0	0	T	16256481	C	T	16256481	2	4	408	1	0	0	0	0	0	0	0	1	3272	755	27	1		1	CENPV	17	16256481	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	320747	16256481	64938729	3234	81052											
ZNF624	57547	broad.mit.edu	37	chr17	16526165	16526165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacggtaagctgtgatgtatTagtgaaggctttctcacatt	10	14	10	7	1	1	2	1	2	1	0	2	2	1	2	0	2	1	4	0	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:16526165T>C	ENST00000311331.7	-	6	2126	c.2035A>G	c.(2035-2037)Aat>Gat	p.N679D		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGATGTATTAGTGAAGGCT	0.388													35	94					0	0	0	0	C	16526165	T	C	16526165	3	2	408	1	0	0	0	0	1	0	0	0	18143	1754	61	5	566	5	ZNF624	17	16526165	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	269684	16526165	64669045	3235	81053											
MPRIP	23164	broad.mit.edu	37	chr17	17045965	17045965	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggtgattgaaaagttTgaggccttggacattgagaa	12	11	12	6	0	0	4	0	4	0	1	1	6	1	5	2	3	0	1	2	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:17045965T>C	ENST00000395811.5	+	8	1010	c.921T>C	c.(919-921)ttT>ttC	p.F307F	MPRIP_ENST00000341712.4_Silent_p.F307F|MPRIP_ENST00000395804.3_Silent_p.F307F|MPRIP_ENST00000444976.1_Silent_p.F307F	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	307	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTGAAAAGTTTGAGGCCTTGG	0.607													33	85					0	0	0	0	C	17045965	T	C	17045965	2	2	408	1	0	0	0	0	0	0	0	1	9813	1809	63	5		5	MPRIP	17	17045965	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	519800	17045965	64149245	3236	81054											
PLD6	201164	broad.mit.edu	37	chr17	17106358	17106358	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaccctcttgtccacgAtggcaaacttgtgatgcatg	9	11	10	11	1	1	2	0	2	1	0	2	3	2	2	2	1	3	3	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:17106358A>T	ENST00000321560.3	-	2	510	c.482T>A	c.(481-483)aTc>aAc	p.I161N	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	161	PLD phosphodiesterase.				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity			endometrium(1)|lung(1)	2						CTTGTCCACGATGGCAAACTT	0.552													16	71					0	0	0	0	T	17106358	A	T	17106358	3	4	408	1	0	0	0	0	1	0	0	0	12122	333	12	5	280	5	PLD6	17	17106358	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	60393	17106358	64088852	3237	81055											
COPS3	8533	broad.mit.edu	37	chr17	17150805	17150805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcatcaccttttgtacaaActgagggttcactgtgatct	9	14	7	11	0	4	2	3	2	1	0	4	2	4	2	2	1	2	2	2	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:17150805A>G	ENST00000539941.2	-	11	1355	c.1147T>C	c.(1147-1149)Ttt>Ctt	p.F383L	COPS3_ENST00000439936.2_Missense_Mutation_p.F325L|COPS3_ENST00000268717.5_Missense_Mutation_p.F403L	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	403					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTTGTACAAACTGAGGGTTC	0.493													68	233					0	0	0	0	G	17150805	A	G	17150805	3	3	408	1	0	0	0	0	1	0	0	0	3764	43	2	5	72	5	COPS3	17	17150805	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	44447	17150805	64044405	3238	81056											
RAI1	10743	broad.mit.edu	37	chr17	17699907	17699907	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggcagcaagctctcTgaccggcccctccatgcgct	6	7	12	16	2	1	1	0	1	1	0	3	1	2	1	4	3	4	5	4	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:17699907T>C	ENST00000353383.1	+	3	4114	c.3645T>C	c.(3643-3645)tcT>tcC	p.S1215S	RAI1_ENST00000261641.6_Silent_p.S1215S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1215						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAAGCTCTCTGACCGGCCCC	0.652													22	77					0	0	0	0	C	17699907	T	C	17699907	2	2	408	1	0	0	0	0	0	0	0	1	13089	1567	55	5		5	RAI1	17	17699907	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	549102	17699907	63495303	3239	81057											
MYO15A	51168	broad.mit.edu	37	chr17	18022349	18022349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaggaaggcccgcaccGtgctcaagtccacgtcaaag	12	4	12	13	3	2	1	2	0	0	1	3	2	3	2	3	2	1	3	3	2	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:18022349G>A	ENST00000205890.5	+	2	573	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	79	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCCCGCACCGTGCTCAAGTC	0.617													7	23					0	0	0	0	A	18022349	G	A	18022349	3	1	408	1	0	0	0	0	1	0	0	0	10133	1145	40	1	237	1	MYO15A	17	18022349	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	322442	18022349	63172861	3240	81058											
MYO15A	51168	broad.mit.edu	37	chr17	18054751	18054751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggtactctacgctcaactCtgagcacttcccacagccca	9	8	6	18	2	3	1	1	1	2	0	4	1	4	1	3	1	5	3	3	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:18054751C>T	ENST00000205890.5	+	40	8035	c.7697C>T	c.(7696-7698)tCt>tTt	p.S2566F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2566	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACGCTCAACTCTGAGCACTTC	0.627													14	109					0	0	0	0	T	18054751	C	T	18054751	3	4	408	1	0	0	0	0	1	0	0	0	10133	913	32	2	7847	2	MYO15A	17	18054751	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	32402	18054751	63140459	3241	81059											
SMCR8	140775	broad.mit.edu	37	chr17	18220641	18220641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagccacaggaccatcaGcgaggacagtattgaagtcc	13	6	11	11	1	2	1	2	1	0	0	3	4	3	3	3	2	2	1	3	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:18220641G>A	ENST00000406438.3	+	1	2018	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	513										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGGACCATCAGCGAGGACAGT	0.537													21	145					0	0	0	0	A	18220641	G	A	18220641	3	1	408	1	0	0	0	0	1	0	0	0	14880	971	34	4	1540	4	SMCR8	17	18220641	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	165890	18220641	62974569	3242	81060											
TRIM16L	147166	broad.mit.edu	37	chr17	18638255	18638255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggctgcaggaggagaacCgcaaggtcaccaacaccacg	12	3	12	14	3	1	1	1	0	0	1	2	3	2	2	4	4	3	3	4	4	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:18638255C>T	ENST00000449552.2	+	7	2013	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	177	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GGAGGAGAACCGCAAGGTCAC	0.607													11	80					0	0	0	0	T	18638255	C	T	18638255	3	4	408	1	0	0	0	0	1	0	0	0	16587	652	23	1	543	1	TRIM16L	17	18638255	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	417614	18638255	62556955	3243	81061											
MAPK7	5598	broad.mit.edu	37	chr17	19284283	19284283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggctgcatctttggtgAgatgctggcccggcgccagc	4	10	16	11	2	1	1	0	1	1	1	1	2	1	1	2	4	3	3	2	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19284283A>G	ENST00000308406.5	+	4	1147	c.761A>G	c.(760-762)gAg>gGg	p.E254G	MAPK7_ENST00000395602.4_Missense_Mutation_p.E254G|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.E254G|MAPK7_ENST00000299612.7_Missense_Mutation_p.E115G	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	254	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|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	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ATCTTTGGTGAGATGCTGGCC	0.562													13	43					0	0	0	0	G	19284283	A	G	19284283	3	3	408	1	0	0	0	0	1	0	0	0	9351	304	11	5	771	5	MAPK7	17	19284283	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	646028	19284283	61910927	3244	81062											
SLC47A1	55244	broad.mit.edu	37	chr17	19470408	19470408	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgctctctgcctgcaGtgcacgagtggtggtgttct	5	13	14	9	1	2	0	0	0	2	0	3	2	2	1	1	3	4	4	1	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19470408G>A	ENST00000270570.4	+	14	1262		c.e14-1		SLC47A1_ENST00000571335.1_Splice_Site|SLC47A1_ENST00000395585.1_Splice_Site|SLC47A1_ENST00000457293.1_Splice_Site|SLC47A1_ENST00000436810.2_Splice_Site|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1							integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TCTGCCTGCAGTGCACGAGTG	0.517													22	323					0	0	0	0	A	19470408	G	A	19470408	5	1	408	1	0	0	0	0	0	0	1	0	14735	1043	36	4	1230	4	SLC47A1	17	19470408	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	186125	19470408	61724802	3245	81063											
ALDH3A1	218	broad.mit.edu	37	chr17	19645443	19645443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttccccacccccgtgctgCccgtgtacaggatatggtcg	5	10	10	16	3	1	0	0	0	1	0	3	1	2	1	5	2	3	2	5	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19645443C>T	ENST00000457500.2	-	4	892	c.563G>A	c.(562-564)gGc>gAc	p.G188D	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G115D|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G188D|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G188D|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.G188D	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	188					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCCCGTGCTGCCCGTGTACAG	0.587													36	67					0	0	0	0	T	19645443	C	T	19645443	3	4	408	1	0	0	0	0	1	0	0	0	497	739	26	4	826	4	ALDH3A1	17	19645443	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	175035	19645443	61549767	3246	81064											
AKAP10	11216	broad.mit.edu	37	chr17	19861746	19861746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcagcctctaaccaaaatTtcaccaaatgctccattcgc	12	12	3	14	1	3	0	2	0	1	0	5	0	4	0	4	0	3	1	4	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19861746T>C	ENST00000225737.6	-	4	615	c.458A>G	c.(457-459)aAa>aGa	p.K153R	AKAP10_ENST00000395536.3_Missense_Mutation_p.K153R|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	153	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TAACCAAAATTTCACCAAATG	0.443													27	81					0	0	0	0	C	19861746	T	C	19861746	3	2	408	1	0	0	0	0	1	0	0	0	446	1841	64	5	1578	5	AKAP10	17	19861746	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	216303	19861746	61333464	3247	81065											
AKAP10	11216	broad.mit.edu	37	chr17	19861847	19861847	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtcttagaaaggcttgaTttggtctcttgagtctggta	8	15	13	5	0	3	3	0	2	3	1	4	3	3	3	0	4	0	2	0	4	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19861847T>C	ENST00000225737.6	-	4	514	c.357A>G	c.(355-357)aaA>aaG	p.K119K	AKAP10_ENST00000395536.3_Silent_p.K119K|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	119					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					AAAGGCTTGATTTGGTCTCTT	0.403													20	60					0	0	0	0	C	19861847	T	C	19861847	2	2	408	1	0	0	0	0	0	0	0	1	446	1490	52	5		5	AKAP10	17	19861847	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	101	19861847	61333363	3248	81066											
KCNJ12	3768	broad.mit.edu	37	chr17	21319454	21319459	+	In_Frame_Del	DEL	CCATCA	CCATCA	-																															ccgcatctttctggtgtcgcCcatcaccatcttgcatgaga																								rs140687028	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:21319454_21319459delCCATCA	ENST00000583088.1	+	3	1695_1700	c.800_805delCCATCA	c.(799-807)ccc>c	p.PIT267del	KCNJ12_ENST00000331718.5_In_Frame_Del_p.PIT267del	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.P267H(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CTGGTGTCGCCCATCACCATCTTGCA	0.607										Prostate(3;0.18)			9	124	---	---	---	---					-	21319459	CCATCA	-	21319454	7	5	408	1	0	1	0	1	0	0	0	0	8099	623	22	0	802	0	KCNJ12	17	21319454	In_Frame_Del	DEL	CCATCA	TCGA-F7-A624-01A-22D-A30E-08	1457607	21319454	59875756	3249	81067											
PIGS	94005	broad.mit.edu	37	chr17	26897899	26897899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatctctctttcatgcacaAcggtgaagggcagcttctcc	9	11	9	12	1	4	1	1	1	3	0	6	2	4	1	1	2	3	3	1	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:26897899A>G	ENST00000308360.7	-	3	632	c.257T>C	c.(256-258)gTt>gCt	p.V86A	PIGS_ENST00000395346.2_Missense_Mutation_p.V78A|PIGS_ENST00000543734.1_Missense_Mutation_p.V25A	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	86					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TTCATGCACAACGGTGAAGGG	0.562													35	113					0	0	0	0	G	26897899	A	G	26897899	3	3	408	1	0	0	0	0	1	0	0	0	11970	43	2	5	1450	5	PIGS	17	26897899	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5578445	26897899	54297311	3250	81068											
ALDOC	230	broad.mit.edu	37	chr17	26900911	26900911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcattgaggttgaatgAtgcctcttcttcgctctgac	7	14	11	9	1	3	4	0	4	3	0	4	5	3	4	1	2	1	3	1	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:26900911A>G	ENST00000226253.4	-	8	1316	c.841T>C	c.(841-843)Tca>Cca	p.S281P	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.S253P|ALDOC_ENST00000395321.2_Missense_Mutation_p.S281P	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	281					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AGGTTGAATGATGCCTCTTCT	0.562													4	134					0	0	0	0	G	26900911	A	G	26900911	3	3	408	1	0	0	0	0	1	0	0	0	509	333	12	5	261	5	ALDOC	17	26900911	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3012	26900911	54294299	3251	81069											
KIAA0100	9703	broad.mit.edu	37	chr17	26962548	26962548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagtaggtctcggcactgtAgagtggccaggacatgctgg	8	10	15	8	1	1	1	0	0	1	1	2	2	1	2	1	5	1	4	1	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:26962548A>G	ENST00000528896.2	-	16	2131	c.2057T>C	c.(2056-2058)cTa>cCa	p.L686P	KIAA0100_ENST00000544884.1_Missense_Mutation_p.L543P|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L543P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	686						extracellular region				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)					TCGGCACTGTAGAGTGGCCAG	0.527													35	69					0	0	0	0	G	26962548	A	G	26962548	3	3	408	1	0	0	0	0	1	0	0	0	8205	420	15	5	4746	5	KIAA0100	17	26962548	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	61637	26962548	54232662	3252	81070											
KIAA0100	9703	broad.mit.edu	37	chr17	26965397	26965397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacagttaggacgcccCgctgatggatgctttgtggc	6	10	14	11	2	0	1	0	1	0	0	1	3	1	3	3	4	1	3	3	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:26965397C>A	ENST00000528896.2	-	13	1459	c.1385G>T	c.(1384-1386)cGg>cTg	p.R462L	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R319L|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R319L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	462						extracellular region				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)					TAGGACGCCCCGCTGATGGAT	0.577													5	72					0.0293803	0.0295309	1	0	A	26965397	C	A	26965397	3	1	408	1	0	0	0	0	1	0	0	0	8205	652	23	3	5430	3	KIAA0100	17	26965397	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2849	26965397	54229813	3253	81071											
CRYBA1	1411	broad.mit.edu	37	chr17	27579135	27579137	+	In_Frame_Del	DEL	GAG	GAG	-																															gcaacagtttatcctggagaGaggagaataccctcgctggg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:27579135_27579137delGAG	ENST00000225387.3	+	4	270_272	c.269_271delGAG	c.(268-273)aga>a	p.RG90del		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	90	Beta/gamma crystallin 'Greek key' 2.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATCCTGGAGAGAGGAGAATACCC	0.493											OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	112	---	---	---	---					-	27579137	GAG	-	27579135	7	5	408	1	0	1	0	1	0	0	0	0	3937	942	33	0	283	0	CRYBA1	17	27579135	In_Frame_Del	DEL	GAG	TCGA-F7-A624-01A-22D-A30E-08	613738	27579135	53616075	3254	81072											
TBC1D29	26083	broad.mit.edu	37	chr17	28890430	28890430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggagagggagatgtggcaGgataatagggtaatagtggg	12	8	19	2	1	0	2	0	0	0	2	1	5	0	3	0	6	0	2	0	6	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:28890430G>T	ENST00000580161.1	+	6	2937	c.440G>T	c.(439-441)aGg>aTg	p.R147M	TBC1D29_ENST00000579181.1_Missense_Mutation_p.R147M|TBC1D29_ENST00000584297.1_3'UTR			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	147						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				agatgtggcaggataataggg	0.483													6	18					0.00116845	0.00118101	1	0	T	28890430	G	T	28890430	3	4	408	1	0	0	0	0	1	0	0	0	15709	1000	35	4	458	4	TBC1D29	17	28890430	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1311295	28890430	52304780	3255	81073											
NF1	4763	broad.mit.edu	37	chr17	29527540	29527540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcaaactgtgtaaagCaagtacttacatcaattggg	13	12	9	7	0	2	0	2	0	0	0	2	0	2	0	0	1	4	3	0	1	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:29527540C>T	ENST00000358273.4	+	9	1372	c.989C>T	c.(988-990)gCa>gTa	p.A330V	NF1_ENST00000431387.4_Missense_Mutation_p.A330V|NF1_ENST00000356175.3_Missense_Mutation_p.A330V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	330					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)	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)		CTGTGTAAAGCAAGTACTTAC	0.413			"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	74					0	0	0	0	T	29527540	C	T	29527540	3	4	408	1	0	0	0	0	1	0	0	0	10426	710	25	4	1023	4	NF1	17	29527540	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	637110	29527540	51667670	3256	81074											
EVI2A	2123	broad.mit.edu	37	chr17	29645893	29645893	+	Frame_Shift_Del	DEL	T	T	-																															tctgcctgtcttgttttgaaTaactgaatcccaggaagaag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:29645893delT	ENST00000247270.3	-	3	544	c.208delA	c.(208-210)ttfs	p.I70fs	NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Frame_Shift_Del_p.I47fs|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Frame_Shift_Del_p.I47fs|NF1_ENST00000581113.2_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	47						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTGTTTTGAATAACTGAATCC	0.373													58	150	---	---	---	---					-	29645893	T	-	29645893	7	5	408	1	0	1	0	1	0	0	0	0	5325	1406	49	0	575	0	EVI2A	17	29645893	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	118353	29645893	51549317	3257	81075											
UTP6	55813	broad.mit.edu	37	chr17	30213066	30213066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttaaggatttcttcagaAtaatcaggattctcctaaag	13	13	6	9	0	4	1	2	0	2	1	5	3	4	3	2	2	0	0	2	2	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:30213066A>G	ENST00000261708.4	-	9	773	c.636T>C	c.(634-636)taT>taC	p.Y212Y	UTP6_ENST00000490218.2_5'UTR|CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	212					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TTTCTTCAGAATAATCAGGAT	0.348													20	55					0	0	0	0	G	30213066	A	G	30213066	2	3	408	1	0	0	0	0	0	0	0	1	17198	108	4	5		5	UTP6	17	30213066	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	567173	30213066	50982144	3258	81076											
MYO1D	4642	broad.mit.edu	37	chr17	30821922	30821922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacgttcacttgaaggTggcgcttctcactgcaggaa	8	11	13	9	2	2	2	2	2	1	0	3	3	2	3	0	4	1	3	0	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:30821922T>C	ENST00000318217.5	-	22	3180	c.2876A>G	c.(2875-2877)cAc>cGc	p.H959R	MYO1D_ENST00000394649.4_Missense_Mutation_p.H871R	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	959						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CACTTGAAGGTGGCGCTTCTC	0.622													17	73					0	0	0	0	C	30821922	T	C	30821922	3	2	408	1	0	0	0	0	1	0	0	0	10141	1696	59	5	148	5	MYO1D	17	30821922	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	608856	30821922	50373288	3259	81077											
TMEM132E	124842	broad.mit.edu	37	chr17	32964827	32964827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatggaccactctcaccActgggtgttcctgggcaacg	8	8	11	14	1	1	0	1	0	1	0	3	1	2	1	3	3	2	3	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:32964827A>G	ENST00000321639.5	+	10	2859	c.2531A>G	c.(2530-2532)cAc>cGc	p.H844R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	844						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CACTCTCACCACTGGGTGTTC	0.657													33	111					0	0	0	0	G	32964827	A	G	32964827	3	3	408	1	0	0	0	0	1	0	0	0	16142	159	6	5	2569	5	TMEM132E	17	32964827	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2142905	32964827	48230383	3260	81078											
LIG3	3980	broad.mit.edu	37	chr17	33321416	33321416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaccacttcagctactTcagccgcagtctcaagcccg	9	8	9	15	2	3	1	3	0	1	1	4	2	3	1	3	1	4	2	3	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33321416T>C	ENST00000378526.4	+	9	1710	c.1577T>C	c.(1576-1578)tTc>tCc	p.F526S	LIG3_ENST00000262327.5_Missense_Mutation_p.F526S	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	526					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTCAGCTACTTCAGCCGCAGT	0.512								Other BER factors					6	130					0	0	0	0	C	33321416	T	C	33321416	3	2	408	1	0	0	0	0	1	0	0	0	8836	1783	62	5	1607	5	LIG3	17	33321416	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	356589	33321416	47873794	3261	81079											
NLE1	54475	broad.mit.edu	37	chr17	33460199	33460199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacactcacatccggaggCatttgtccttcccaccactt	8	10	5	18	1	1	0	1	0	0	0	4	1	4	1	5	2	0	1	5	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33460199C>A	ENST00000586869.1	-	11	1579	c.560G>T	c.(559-561)tGc>tTc	p.C187F	NLE1_ENST00000442241.4_Missense_Mutation_p.C479F|NLE1_ENST00000360831.5_Missense_Mutation_p.C437F			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	479						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CATCCGGAGGCATTTGTCCTT	0.552													4	124					0.00116845	0.00118101	1	0	A	33460199	C	A	33460199	3	1	408	1	0	0	0	0	1	0	0	0	10530	710	25	4	29	4	NLE1	17	33460199	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	138783	33460199	47735011	3262	81080											
SLFN11	91607	broad.mit.edu	37	chr17	33679526	33679526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaatcgccgaacactgTccaacacaatgtgatcaccc	13	7	7	14	2	1	2	1	2	0	1	3	4	2	2	3	0	2	0	3	0	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33679526T>C	ENST00000394566.1	-	7	2827	c.2555A>G	c.(2554-2556)gAc>gGc	p.D852G	SLFN11_ENST00000308377.4_Missense_Mutation_p.D852G	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	852						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGAACACTGTCCAACACAAT	0.478													54	184					0	0	0	0	C	33679526	T	C	33679526	3	2	408	1	0	0	0	0	1	0	0	0	14821	1667	58	5	154	5	SLFN11	17	33679526	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	219327	33679526	47515684	3263	81081											
AP2B1	163	broad.mit.edu	37	chr17	33954513	33954513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtttggcatctcaagccAacattgctcaggtcagactt	9	13	8	11	1	3	1	3	0	1	1	5	1	3	1	1	2	3	3	1	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33954513A>G	ENST00000262325.7	+	8	1601	c.1048A>G	c.(1048-1050)Aac>Gac	p.N350D	AP2B1_ENST00000589344.1_Missense_Mutation_p.N350D|AP2B1_ENST00000538556.1_Missense_Mutation_p.N293D|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.N350D|AP2B1_ENST00000592545.1_Missense_Mutation_p.N312D|AP2B1_ENST00000312678.8_Missense_Mutation_p.N350D	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	350					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATCTCAAGCCAACATTGCTCA	0.398													14	41					0	0	0	0	G	33954513	A	G	33954513	3	3	408	1	0	0	0	0	1	0	0	0	742	130	5	5	1074	5	AP2B1	17	33954513	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	274987	33954513	47240697	3264	81082											
TAF15	8148	broad.mit.edu	37	chr17	34171941	34171941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacggtggagaccgaagTggaggctatggaggagacag	11	5	19	6	2	0	2	0	0	0	2	0	7	0	4	1	7	1	2	1	7	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:34171941T>C	ENST00000592237.1	+	18	1581	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	TAF15_ENST00000588240.1_Silent_p.S546S|TAF15_ENST00000311979.3_Silent_p.S543S			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAGACCGAAGTGGAGGCTATG	0.617			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								5	148					0	0	0	0	C	34171941	T	C	34171941	3	2	408	1	0	0	0	0	1	0	0	0	15609	1693	59	5	1696	5	TAF15	17	34171941	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	217428	34171941	47023269	3265	81083											
RDM1	201299	broad.mit.edu	37	chr17	34249575	34249575	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggatgatcaagacagTcttacctagaacaacaatca	17	9	6	9	0	4	3	3	1	1	2	4	4	4	4	1	1	3	0	1	1	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:34249575T>C	ENST00000430160.2	-	4	1074	c.604A>G	c.(604-606)Act>Gct	p.T202A	RDM1_ENST00000431884.2_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394528.3_Missense_Mutation_p.T225A|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000293273.6_Intron|RDM1_ENST00000419453.2_Intron			Q8NG50	RDM1_HUMAN	RAD52 motif 1	0					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCAAGACAGTCTTACCTAGA	0.328								Other identified genes with known or suspected DNA repair function					28	127					0	0	0	0	C	34249575	T	C	34249575	3	2	408	1	0	0	0	0	1	0	0	0	13279	1667	58	5	237	5	RDM1	17	34249575	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	77634	34249575	46945635	3266	81084											
AATF	26574	broad.mit.edu	37	chr17	35388942	35388942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaagctactgagtttcAtggcacctattgaccatact	11	13	7	10	0	1	2	1	2	0	0	1	2	1	2	2	1	4	4	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:35388942A>G	ENST00000225402.5	+	11	1830	c.1579A>G	c.(1579-1581)Atg>Gtg	p.M527V		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	527					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACTGAGTTTCATGGCACCTAT	0.398													36	111					0	0	0	0	G	35388942	A	G	35388942	3	3	408	1	0	0	0	0	1	0	0	0	25	217	8	5	1621	5	AATF	17	35388942	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1139367	35388942	45806268	3267	81085											
ACACA	31	broad.mit.edu	37	chr17	35582000	35582000	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttatggcgaagctcataTgatggcaaatgggaggcaat	12	10	14	5	1	1	1	1	1	0	0	1	3	1	2	0	5	1	4	0	5	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:35582000T>C	ENST00000353139.5	-	27	3868	c.3387A>G	c.(3385-3387)tcA>tcG	p.S1129S	ACACA_ENST00000394406.2_Silent_p.S1092S|ACACA_ENST00000360679.3_Silent_p.S1034S|ACACA_ENST00000335166.5_Silent_p.S1014S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1092					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGCTCATATGATGGCAAAT	0.398													6	71					0	0	0	0	C	35582000	T	C	35582000	2	2	408	1	0	0	0	0	0	0	0	1	106	1451	51	5		5	ACACA	17	35582000	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	193058	35582000	45613210	3268	81086											
TADA2A	6871	broad.mit.edu	37	chr17	35830624	35830624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagcagtggctccgccGgcaagctgacatgtgagtaa	9	8	13	11	2	0	2	0	2	0	0	1	2	1	2	3	2	3	5	3	2	2	2	rs149845906		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:35830624G>A	ENST00000394395.2	+	13	1189	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.R339Q	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	339					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	p.R339Q(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGGCTCCGCCGGCAAGCTGAC	0.512													4	119					0	0	0	0	A	35830624	G	A	35830624	3	1	408	1	0	0	0	0	1	0	0	0	15601	1116	39	1	1157	1	TADA2A	17	35830624	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	248624	35830624	45364586	3269	81087											
HNF1B	6928	broad.mit.edu	37	chr17	36070601	36070601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactggctggtcaccatggcGctgttgccatggtgactgat	6	11	14	10	1	1	2	1	2	0	0	1	3	1	2	2	4	1	3	2	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:36070601G>A	ENST00000225893.4	-	5	1477	c.1116C>T	c.(1114-1116)agC>agT	p.S372S	HNF1B_ENST00000427275.2_Silent_p.S346S|HNF1B_ENST00000561193.1_Silent_p.S346S|HNF1B_ENST00000560016.1_Silent_p.S372S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	372					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCACCATGGCGCTGTTGCCAT	0.532													28	70					0	0	0	0	A	36070601	G	A	36070601	2	1	408	1	0	0	0	0	0	0	0	1	7302	1078	38	1		1	HNF1B	17	36070601	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	239977	36070601	45124609	3270	81088											
MRPL45	84311	broad.mit.edu	37	chr17	36476503	36476503	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcctttgcccttaggAcatgacttgggacatcaaat	9	14	8	10	0	2	1	1	1	1	0	3	3	2	3	2	2	1	1	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:36476503A>G	ENST00000312513.5	+	6	673	c.510_splice	c.e6-1	p.D171_splice		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	171					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCCCTTAGGACATGACTTGG	0.468													5	251					0	0	0	0	G	36476503	A	G	36476503	5	3	408	1	0	0	0	0	0	0	1	0	9879	289	10	5	464	5	MRPL45	17	36476503	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	405902	36476503	44718707	3271	81089											
PSMB3	5691	broad.mit.edu	37	chr17	36912171	36912171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccggctgaacctgtatgAgttgaaggaaggtcggcaga	10	9	15	7	2	0	4	0	3	0	1	2	5	1	5	2	4	1	5	2	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:36912171A>T	ENST00000225426.4	+	3	315	c.224A>T	c.(223-225)gAg>gTg	p.E75V		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	75					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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)	4						AACCTGTATGAGTTGAAGGAA	0.478													19	67					0	0	0	0	T	36912171	A	T	36912171	3	4	408	1	0	0	0	0	1	0	0	0	12757	304	11	5	234	5	PSMB3	17	36912171	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	435668	36912171	44283039	3272	81090											
CDK12	51755	broad.mit.edu	37	chr17	37650864	37650864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaaatcaaaatccttcGtcagttaatccaccgaagtg	13	11	7	10	3	2	1	2	1	0	0	6	2	4	1	3	0	0	1	3	0	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:37650864G>A	ENST00000447079.4	+	5	2369	c.2336G>A	c.(2335-2337)cGt>cAt	p.R779H	CDK12_ENST00000430627.2_Missense_Mutation_p.R779H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	779	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAATCCTTCGTCAGTTAatc	0.408			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			9	26					0	0	0	0	A	37650864	G	A	37650864	3	1	408	1	0	0	0	0	1	0	0	0	3157	1145	40	1	2354	1	CDK12	17	37650864	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	738693	37650864	43544346	3273	81091											
CDK12	51755	broad.mit.edu	37	chr17	37687472	37687472	+	Frame_Shift_Del	DEL	G	G	-																															ctcaggagcaggccttcactGggggggcccaactcagtctt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:37687472delG	ENST00000447079.4	+	14	4409	c.4376delG	c.(4375-4377)tgfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGCCTTCACTGGGGGGGCCCA	0.562			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			28	117	---	---	---	---					-	37687472	G	-	37687472	7	5	408	1	0	1	0	1	0	0	0	0	3157	1357	47	0	4430	0	CDK12	17	37687472	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	36608	37687472	43507738	3274	81092											
ERBB2	2064	broad.mit.edu	37	chr17	37866346	37866346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcccaacagtgacgcgCactgtctgtgccggtggctg	5	10	13	13	3	1	1	0	1	1	0	1	1	1	1	2	2	3	2	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:37866346C>T	ENST00000406381.2	+	8	1071	c.561C>T	c.(559-561)cgC>cgT	p.R187R	ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Silent_p.R202R|ERBB2_ENST00000540147.1_Silent_p.R187R|ERBB2_ENST00000540042.1_Silent_p.R187R|ERBB2_ENST00000584601.1_Silent_p.R187R|ERBB2_ENST00000269571.5_Silent_p.R217R|ERBB2_ENST00000578199.1_Silent_p.R187R|ERBB2_ENST00000584450.1_Silent_p.R217R	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	217					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGTGACGCGCACTGTCTGTG	0.662		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			61	116					0	0	0	0	T	37866346	C	T	37866346	2	4	408	1	0	0	0	0	0	0	0	1	5244	697	25	4		4	ERBB2	17	37866346	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	178874	37866346	43328864	3275	81093											
ERBB2	2064	broad.mit.edu	37	chr17	37883982	37883982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcggccccagcccccttcGccccgagagggccctctgcc	3	6	11	21	3	1	1	0	0	1	1	3	2	1	1	8	2	2	1	8	2	0	2	rs144501267	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:37883982G>A	ENST00000406381.2	+	29	3873	c.3363G>A	c.(3361-3363)tcG>tcA	p.S1121S	ERBB2_ENST00000445658.2_Silent_p.S875S|ERBB2_ENST00000541774.1_Silent_p.S1136S|ERBB2_ENST00000540147.1_Silent_p.S1121S|ERBB2_ENST00000584601.1_Silent_p.S1121S|ERBB2_ENST00000269571.5_Silent_p.S1151S|ERBB2_ENST00000584450.1_3'UTR	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1151					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGCCCCCTTCGCCCCGAGAGG	0.602		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			21	51					0	0	0	0	A	37883982	G	A	37883982	2	1	408	1	0	0	0	0	0	0	0	1	5244	1074	38	1		1	ERBB2	17	37883982	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	17636	37883982	43311228	3276	81094											
MED24	9862	broad.mit.edu	37	chr17	38209791	38209791	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgttgattgcccattggtAgtcactccagcgctccttcc	6	13	8	14	1	1	1	1	1	0	0	4	1	4	1	4	1	2	3	4	1	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38209791A>G	ENST00000394126.1	-	1	554	c.136T>C	c.(136-138)Tac>Cac	p.Y46H	MED24_ENST00000394127.2_Missense_Mutation_p.Y21H|MED24_ENST00000356271.3_Missense_Mutation_p.Y21H|MED24_ENST00000501516.3_Missense_Mutation_p.Y21H|MED24_ENST00000394128.2_Missense_Mutation_p.Y21H|MED24_ENST00000479829.1_5'UTR			O75448	MED24_HUMAN	mediator complex subunit 24	21					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCCCATTGGTAGTCACTCCAG	0.502													69	203					0	0	0	0	G	38209791	A	G	38209791	3	3	408	1	0	0	0	0	1	0	0	0	9511	420	15	5	3008	5	MED24	17	38209791	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	325809	38209791	42985419	3277	81095											
THRA	7067	broad.mit.edu	37	chr17	38249565	38249565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgacagcagtgaggcggActccccgagctcctctgagg	9	5	14	13	3	1	3	0	2	1	1	3	6	3	4	3	3	2	2	3	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38249565A>G	ENST00000264637.4	+	10	1983	c.1403A>G	c.(1402-1404)gAc>gGc	p.D468G	THRA_ENST00000394121.4_Missense_Mutation_p.D468G|THRA_ENST00000584985.1_Missense_Mutation_p.D429G|NR1D1_ENST00000246672.3_Intron	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	468					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTGAGGCGGACTCCCCGAGC	0.657													13	45					0	0	0	0	G	38249565	A	G	38249565	3	3	408	1	0	0	0	0	1	0	0	0	15967	275	10	5	1560	5	THRA	17	38249565	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	39774	38249565	42945645	3278	81096											
RARA	5914	broad.mit.edu	37	chr17	38511548	38511548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagccggaccgggtggAcatgctgcaggagccgctgc	7	4	18	12	3	0	0	0	0	0	0	0	4	0	4	3	5	6	4	3	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38511548A>G	ENST00000254066.5	+	8	1501	c.1046A>G	c.(1045-1047)gAc>gGc	p.D349G	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_Missense_Mutation_p.D344G|RARA_ENST00000394086.3_Missense_Mutation_p.D365G|RARA_ENST00000394089.2_Missense_Mutation_p.D349G|RARA_ENST00000425707.3_Missense_Mutation_p.D252G	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	349	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACCGGGTGGACATGCTGCAG	0.652			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL						OREG0024394	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	10					0	0	0	0	G	38511548	A	G	38511548	3	3	408	1	0	0	0	0	1	0	0	0	13134	275	10	5	1239	5	RARA	17	38511548	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	261983	38511548	42683662	3279	81097											
CCR7	1236	broad.mit.edu	37	chr17	38715180	38715180	+	Frame_Shift_Del	DEL	T	T	-																															gagagccaccaccagcacgcTtttcattggtttccctgtag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38715180delT	ENST00000246657.2	-	2	87	c.25delA	c.(25-27)gcfs	p.S9fs	CCR7_ENST00000579344.1_Frame_Shift_Del_p.S3fs	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	9					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACCAGCACGCTTTTCATTGGT	0.507													15	74	---	---	---	---					-	38715180	T	-	38715180	7	5	408	1	0	1	0	1	0	0	0	0	2975	1609	56	0	1119	0	CCR7	17	38715180	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	203632	38715180	42480030	3280	81098											
KRT25	147183	broad.mit.edu	37	chr17	38907488	38907488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtactcagctcgcatgtTgttcagcagaactgtgaggt	8	13	11	9	2	2	2	2	1	0	1	4	2	2	2	0	1	4	6	0	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38907488T>C	ENST00000312150.4	-	4	820	c.760A>G	c.(760-762)Aac>Gac	p.N254D		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	254	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCTCGCATGTTGTTCAGCAGA	0.582													21	64					0	0	0	0	C	38907488	T	C	38907488	3	2	408	1	0	0	0	0	1	0	0	0	8514	1812	63	5	612	5	KRT25	17	38907488	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	192308	38907488	42287722	3281	81099											
KRT28	162605	broad.mit.edu	37	chr17	38953467	38953467	+	Frame_Shift_Del	DEL	C	C	-																															caacaaaaccgcgaggtctaCccccggggccgcgttcatct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38953467delC	ENST00000306658.7	-	4	822	c.757delG	c.(757-759)tafs	p.V253fs		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	253	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GCGAGGTCTACCCCCGGGGCC	0.597													12	143	---	---	---	---					-	38953467	C	-	38953467	7	5	408	1	0	1	0	1	0	0	0	0	8517	507	18	0	657	0	KRT28	17	38953467	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	45979	38953467	42241743	3282	81100											
KRT12	3859	broad.mit.edu	37	chr17	39021207	39021207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgcagggccagttcatTctcatacctgaaaaccaagt	11	9	9	12	1	2	1	2	1	1	0	3	1	2	1	3	2	2	2	3	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39021207T>C	ENST00000251643.4	-	3	681	c.658A>G	c.(658-660)Aat>Gat	p.N220D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	220	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GCCAGTTCATTCTCATACCTG	0.537													6	94					0	0	0	0	C	39021207	T	C	39021207	3	2	408	1	0	0	0	0	1	0	0	0	8501	1783	62	5	850	5	KRT12	17	39021207	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	67740	39021207	42174003	3283	81101											
KRT23	25984	broad.mit.edu	37	chr17	39084610	39084610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctgggacatggctgcAgactgtgggaccaagcaagg	9	6	15	11	0	0	1	0	0	0	1	1	3	1	3	3	4	2	3	3	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39084610A>G	ENST00000209718.3	-	6	1225	c.801T>C	c.(799-801)tcT>tcC	p.S267S	KRT23_ENST00000436344.3_Silent_p.S130S|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	267	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ACATGGCTGCAGACTGTGGGA	0.527													38	120					0	0	0	0	G	39084610	A	G	39084610	2	3	408	1	0	0	0	0	0	0	0	1	8512	175	7	5		5	KRT23	17	39084610	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	63403	39084610	42110600	3284	81102											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274132	39274132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattcacagcaagaggggcGgcagcagctggagatgctgc	10	5	17	9	1	1	2	1	0	0	2	1	4	1	3	0	5	5	5	0	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39274132G>A	ENST00000391413.2	-	1	474	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	146	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			caagaggggcggcagcagctg	0.657													12	54					0	0	0	0	A	39274132	G	A	39274132	3	1	408	1	0	0	0	0	1	0	0	0	8602	1116	39	1	155	1	KRTAP4-11	17	39274132	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	189522	39274132	41921078	3285	81103											
KRTAP9-4	85280	broad.mit.edu	37	chr17	39406206	39406206	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccttcctgctgcagcacAccctgctgccagcccacctg	6	7	8	20	0	0	0	0	0	0	0	1	0	1	0	6	0	7	4	6	0	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39406206A>G	ENST00000334109.2	+	1	268	c.234A>G	c.(232-234)acA>acG	p.T78T		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	78	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGCACACCCTGCTGCC	0.617													9	201					0	0	0	0	G	39406206	A	G	39406206	2	3	408	1	0	0	0	0	0	0	0	1	8628	146	6	5		5	KRTAP9-4	17	39406206	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	132074	39406206	41789004	3286	81104											
KRT37	8688	broad.mit.edu	37	chr17	39579038	39579038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccacacctgctcgtGgttgctcttgagggagagct	6	9	14	12	1	1	2	0	1	1	1	2	3	1	2	3	3	3	4	3	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39579038G>T	ENST00000225550.3	-	3	723	c.724C>A	c.(724-726)Cac>Aac	p.H242N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	242	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.H242D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACCTGCTCGTGGTTGCTCTTG	0.687													6	47					3.59834e-05	3.66827e-05	1	0	T	39579038	G	T	39579038	3	4	408	1	0	0	0	0	1	0	0	0	8526	1348	47	4	645	4	KRT37	17	39579038	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	172832	39579038	41616172	3287	81105											
KRT37	8688	broad.mit.edu	37	chr17	39580518	39580518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagattccgatgttgccGggaatgtgacaggtccctgg	8	9	13	11	2	0	2	0	1	0	1	2	4	2	3	4	3	1	1	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39580518G>A	ENST00000225550.3	-	1	257	c.258C>T	c.(256-258)ccC>ccT	p.P86P	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	86	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CGATGTTGCCGGGAATGTGAC	0.602													21	80					0	0	0	0	A	39580518	G	A	39580518	2	1	408	1	0	0	0	0	0	0	0	1	8526	1103	39	1		1	KRT37	17	39580518	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1480	39580518	41614692	3288	81106											
KRT14	3861	broad.mit.edu	37	chr17	39742887	39742887	+	Frame_Shift_Del	DEL	C	C	-																															tgaagccaccgccatagccgCcccccagcccgcaggctccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39742887delC	ENST00000167586.6	-	1	286	c.200delG	c.(199-201)gcfs	p.G68fs		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	68	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCCATAGCCGCCCCCCAGCCC	0.682													7	22	---	---	---	---					-	39742887	C	-	39742887	7	5	408	1	0	1	0	1	0	0	0	0	8503	739	26	0	1250	0	KRT14	17	39742887	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	162369	39742887	41452323	3289	81107											
JUP	3728	broad.mit.edu	37	chr17	39914749	39914749	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggtgcagccctccacaaTctcctccatcctcacaccat	8	9	4	20	1	2	0	1	0	1	0	7	0	6	0	7	1	2	1	7	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39914749T>C	ENST00000393931.3	-	10	1793	c.1675A>G	c.(1675-1677)Att>Gtt	p.I559V	JUP_ENST00000310706.5_Missense_Mutation_p.I559V|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.I559V	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	559					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCCTCCACAATCTCCTCCATC	0.602													14	42					0	0	0	0	C	39914749	T	C	39914749	3	2	408	1	0	0	0	0	1	0	0	0	8025	1435	50	5	582	5	JUP	17	39914749	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	171862	39914749	41280461	3290	81108											
ACLY	47	broad.mit.edu	37	chr17	40035067	40035067	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactggatgatctctccaagCtcatcaaagctccggggcac	10	9	9	13	1	3	1	2	1	1	0	6	2	5	2	2	3	3	3	2	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40035067C>T	ENST00000352035.2	-	21	2506	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	ACLY_ENST00000353196.1_Silent_p.E782E|ACLY_ENST00000537919.1_Silent_p.E521E|ACLY_ENST00000590151.1_Silent_p.E792E|ACLY_ENST00000393896.2_Silent_p.E782E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	792					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTCTCCAAGCTCATCAAAGC	0.567													18	132					0	0	0	0	T	40035067	C	T	40035067	2	4	408	1	0	0	0	0	0	0	0	1	143	796	28	4		4	ACLY	17	40035067	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	120318	40035067	41160143	3291	81109											
ACLY	47	broad.mit.edu	37	chr17	40061860	40061860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgggggcgcctgagtaCtccccatagtttgccagctc	5	10	12	14	2	0	1	0	1	0	0	3	1	1	1	4	2	3	4	4	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40061860C>T	ENST00000352035.2	-	9	1048	c.918G>A	c.(916-918)gaG>gaA	p.E306E	ACLY_ENST00000353196.1_Silent_p.E306E|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.E306E|ACLY_ENST00000393896.2_Silent_p.E306E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	306					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CGCCTGAGTACTCCCCATAGT	0.557													6	138					0	0	0	0	T	40061860	C	T	40061860	2	4	408	1	0	0	0	0	0	0	0	1	143	564	20	4		4	ACLY	17	40061860	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	26793	40061860	41133350	3292	81110											
DHX58	79132	broad.mit.edu	37	chr17	40260095	40260095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcatggatttggtccAtgagcttcttcagcaagtcc	7	13	12	9	0	3	1	2	1	1	0	5	2	5	2	2	4	2	2	2	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40260095A>G	ENST00000251642.3	-	7	932	c.710T>C	c.(709-711)aTg>aCg	p.M237T		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	237					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATTTGGTCCATGAGCTTCTT	0.552													8	108					0	0	0	0	G	40260095	A	G	40260095	3	3	408	1	0	0	0	0	1	0	0	0	4551	217	8	5	1358	5	DHX58	17	40260095	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	198235	40260095	40935115	3293	81111											
ATP6V0A1	535	broad.mit.edu	37	chr17	40639195	40639195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatcaaacggaggatcAccgccagagggttctgcagg	11	7	13	10	2	4	2	2	1	2	1	4	4	4	4	2	4	2	2	2	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40639195A>G	ENST00000343619.4	+	10	956	c.833A>G	c.(832-834)cAc>cGc	p.H278R	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.H278R|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.H285R|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.H235R|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.H278R|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.H235R	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	278					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ACGGAGGATCACCGCCAGAGG	0.493													43	105					0	0	0	0	G	40639195	A	G	40639195	3	3	408	1	0	0	0	0	1	0	0	0	1172	159	6	5	888	5	ATP6V0A1	17	40639195	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	379100	40639195	40556015	3294	81112											
WNK4	65266	broad.mit.edu	37	chr17	40936504	40936504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaggccgtggacgtgtaCgcgttcggcatgtgcatgct	6	10	16	9	5	0	1	0	1	0	0	1	3	0	2	1	3	3	5	1	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40936504C>T	ENST00000246914.5	+	4	1098	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	359	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGGACGTGTACGCGTTCGGCA	0.587													14	34					0	0	0	0	T	40936504	C	T	40936504	2	4	408	1	0	0	0	0	0	0	0	1	17476	547	19	1		1	WNK4	17	40936504	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	297309	40936504	40258706	3295	81113											
IFI35	3430	broad.mit.edu	37	chr17	41166213	41166213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatgacgtcctggagaTccacttccagaagcccaccc	9	7	9	16	1	0	3	0	1	0	2	3	4	3	3	5	1	2	2	5	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:41166213T>C	ENST00000415816.2	+	7	981	c.758T>C	c.(757-759)aTc>aCc	p.I253T	IFI35_ENST00000438323.2_Missense_Mutation_p.I255T	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	253					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GTCCTGGAGATCCACTTCCAG	0.612													31	89					0	0	0	0	C	41166213	T	C	41166213	3	2	408	1	0	0	0	0	1	0	0	0	7569	1435	50	5	790	5	IFI35	17	41166213	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	229709	41166213	40028997	3296	81114											
HDAC5	10014	broad.mit.edu	37	chr17	42169798	42169798	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctcttcttaaaggtgctAataacagtcccatccttgcg	9	13	7	12	1	2	0	0	0	2	0	5	0	4	0	2	1	3	2	2	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42169798A>G	ENST00000225983.6	-	8	1196	c.873T>C	c.(871-873)atT>atC	p.I291I	HDAC5_ENST00000336057.5_Silent_p.I290I|HDAC5_ENST00000393622.2_Silent_p.I290I|HDAC5_ENST00000586802.1_Silent_p.I290I			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	290					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TAAAGGTGCTAATAACAGTCC	0.552													15	32					0	0	0	0	G	42169798	A	G	42169798	2	3	408	1	0	0	0	0	0	0	0	1	7060	358	13	5		5	HDAC5	17	42169798	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1003585	42169798	39025412	3297	81115											
C17orf53	78995	broad.mit.edu	37	chr17	42232288	42232288	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagctgaagcctggctcAgtgctgctgctgaagcaggt	9	9	14	9	0	1	3	1	3	0	0	1	3	1	3	1	2	6	6	1	2	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42232288A>G	ENST00000319977.4	+	7	1866	c.1629A>G	c.(1627-1629)tcA>tcG	p.S543S	C17orf53_ENST00000585683.1_Silent_p.S542S|C17orf53_ENST00000245382.6_Silent_p.S467S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	543										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCCTGGCTCAGTGCTGCTGC	0.597													8	30					0	0	0	0	G	42232288	A	G	42232288	2	3	408	1	0	0	0	0	0	0	0	1	1877	175	7	5		5	C17orf53	17	42232288	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	62490	42232288	38962922	3298	81116											
ATXN7L3	56970	broad.mit.edu	37	chr17	42271917	42271917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctgattttcactcgtcttgGaggagcctgaatcagagggt	8	12	12	9	1	3	3	2	2	1	1	4	5	3	5	2	3	1	0	2	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42271917G>C	ENST00000389384.4	-	11	1171	c.863C>G	c.(862-864)tCc>tGc	p.S288C	ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S295C	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	288					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACTCGTCTTGGAGGAGCCTGA	0.582													11	34					0	0	0	0	C	42271917	G	C	42271917	3	2	408	1	0	0	0	0	1	0	0	0	1222	1174	41	2	188	2	ATXN7L3	17	42271917	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	39629	42271917	38923293	3299	81117											
ATXN7L3	56970	broad.mit.edu	37	chr17	42272027	42272027	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcattatccagggagctctcGacctctggaaggacactgga	10	9	11	11	1	3	0	1	0	2	0	5	5	4	4	2	4	1	1	2	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42272027G>C	ENST00000389384.4	-	11	1061	c.753C>G	c.(751-753)gtC>gtG	p.V251V	ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Silent_p.V258V	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	251	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGAGCTCTCGACCTCTGGAA	0.557													19	46					0	0	0	0	C	42272027	G	C	42272027	2	2	408	1	0	0	0	0	0	0	0	1	1222	1045	37	3		3	ATXN7L3	17	42272027	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	110	42272027	38923183	3300	81118											
GPATCH8	23131	broad.mit.edu	37	chr17	42477017	42477017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccactactgggttggctccGatggctagaccggctgctcc	5	10	12	14	2	0	1	0	0	0	1	3	2	3	1	4	4	2	5	4	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42477017G>A	ENST00000434000.1	-	9	2476	c.2194C>T	c.(2194-2196)Cgg>Tgg	p.R732W	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R810W			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	810						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGTTGGCTCCGATGGCTAGAC	0.552													31	87					0	0	0	0	A	42477017	G	A	42477017	3	1	408	1	0	0	0	0	1	0	0	0	6643	1057	37	1	2084	1	GPATCH8	17	42477017	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	204990	42477017	38718193	3301	81119											
KIF18B	146909	broad.mit.edu	37	chr17	43003861	43003861	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcggccatgggagacTgaggaactgagggaggaaag	11	4	19	7	2	0	3	0	2	0	1	0	7	0	6	1	6	2	1	1	6	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43003861T>C	ENST00000587309.1	-	15	2432	c.2409A>G	c.(2407-2409)tcA>tcG	p.S803S	KIF18B_ENST00000593135.1_Silent_p.S791S|KIF18B_ENST00000339151.4_Silent_p.S794S|KIF18B_ENST00000590129.1_Silent_p.S812S|KIF18B_ENST00000438933.2_Silent_p.S803S	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CATGGGAGACTGAGGAACTGA	0.587													3	12					0	0	0	0	C	43003861	T	C	43003861	2	2	408	1	0	0	0	0	0	0	0	1	8332	1567	55	5		5	KIF18B	17	43003861	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	526844	43003861	38191349	3302	81120											
PLCD3	113026	broad.mit.edu	37	chr17	43190029	43190029	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagagcgtggctggtgaCagtgaggccccgtccttgga	8	8	16	9	2	0	4	0	3	0	1	1	5	1	5	3	4	1	1	3	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43190029C>T	ENST00000322765.5	-	16	2435	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	775					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	TGGCTGGTGACAGTGAGGCCC	0.642													3	20					0	0	0	0	T	43190029	C	T	43190029	2	4	408	1	0	0	0	0	0	0	0	1	12104	465	17	4		4	PLCD3	17	43190029	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	186168	43190029	38005181	3303	81121											
ACBD4	79777	broad.mit.edu	37	chr17	43220866	43220866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggctcccggggcccgcGctgctcttcttcctcctgtg	0	12	12	17	3	2	0	0	0	2	0	5	0	5	0	4	3	1	3	4	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43220866G>A	ENST00000431281.1	+	12	1353	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ACBD4_ENST00000586346.1_Missense_Mutation_p.R295H|ACBD4_ENST00000591859.1_Missense_Mutation_p.R295H|ACBD4_ENST00000398322.3_Silent_p.A282A|ACBD4_ENST00000321854.8_Silent_p.A282A|ACBD4_ENST00000592162.1_Missense_Mutation_p.A236T	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	0							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CGGGGCCCGCGCTGCTCTTCT	0.657													20	53					0	0	0	0	A	43220866	G	A	43220866	3	1	408	1	0	0	0	0	1	0	0	0	124	1087	38	1	950	1	ACBD4	17	43220866	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	30837	43220866	37974344	3304	81122											
FMNL1	752	broad.mit.edu	37	chr17	43322408	43322408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacctggtgaaggtcatTgctgagaagtacccgcaact	11	9	10	11	1	1	2	1	2	0	1	1	3	1	2	2	2	4	3	2	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43322408T>C	ENST00000331495.3	+	21	2997	c.2661T>C	c.(2659-2661)atT>atC	p.I887I	FMNL1_ENST00000328118.3_Silent_p.I887I|FMNL1_ENST00000587489.1_Silent_p.I465I	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	887	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGAAGGTCATTGCTGAGAAGT	0.577													8	103					0	0	0	0	C	43322408	T	C	43322408	2	2	408	1	0	0	0	0	0	0	0	1	5996	1800	63	5		5	FMNL1	17	43322408	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	101542	43322408	37872802	3305	81123											
ARHGAP27	201176	broad.mit.edu	37	chr17	43474094	43474094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctctggaggaacttgcGgagcttgtgccggaccttgc	5	9	14	13	3	1	0	0	0	1	0	1	4	1	4	4	4	5	1	4	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43474094G>A	ENST00000532038.1	-	11	1483	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R304C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R331C|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R672C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R645C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R331C|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R650C			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	672					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AGGAACTTGCGGAGCTTGTGC	0.711													7	48					0	0	0	0	A	43474094	G	A	43474094	3	1	408	1	0	0	0	0	1	0	0	0	878	1116	39	1	679	1	ARHGAP27	17	43474094	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	151686	43474094	37721116	3306	81124											
CRHR1	1394	broad.mit.edu	37	chr17	43912149	43912149	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggcaggtcatggagcAgcccccaaagagctgtggct	9	6	15	11	0	1	1	1	0	0	1	1	3	1	2	2	4	4	5	2	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43912149A>G	ENST00000339069.5	+	13	1459	c.828A>G	c.(826-828)gcA>gcG	p.A276A	CRHR1_ENST00000398285.3_3'UTR|CRHR1_ENST00000314537.5_3'UTR			P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	0					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GTCATGGAGCAGCCCCCAAAG	0.642													16	55					0	0	0	0	G	43912149	A	G	43912149	2	3	408	1	0	0	0	0	0	0	0	1	3901	203	7	5		5	CRHR1	17	43912149	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	438055	43912149	37283061	3307	81125											
WNT9B	7484	broad.mit.edu	37	chr17	44954067	44954067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtgcaggaggagcttgtgTacacctgcaagcactaggcc	9	8	14	10	0	0	0	0	0	0	0	0	2	0	2	2	3	5	5	2	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:44954067T>C	ENST00000290015.2	+	4	1110	c.1057T>C	c.(1057-1059)Tac>Cac	p.Y353H	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	353					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGAGCTTGTGTACACCTGCAA	0.632													6	33					0	0	0	0	C	44954067	T	C	44954067	3	2	408	1	0	0	0	0	1	0	0	0	17495	1638	57	5	1071	5	WNT9B	17	44954067	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1041918	44954067	36241143	3308	81126											
CDC27	996	broad.mit.edu	37	chr17	45219268	45219268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttccaatttggcacagtAcccaaccagtattgtagtgg	10	11	8	12	0	0	0	0	0	0	0	1	0	1	0	4	2	2	4	4	2	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:45219268A>G	ENST00000066544.3	-	12	1595	c.1502T>C	c.(1501-1503)gTa>gCa	p.V501A	CDC27_ENST00000446365.2_Missense_Mutation_p.V440A|CDC27_ENST00000531206.1_Missense_Mutation_p.V507A|CDC27_ENST00000527547.1_Missense_Mutation_p.V500A	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	501					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGGCACAGTACCCAACCAGT	0.353													39	153					0	0	0	0	G	45219268	A	G	45219268	3	3	408	1	0	0	0	0	1	0	0	0	3095	391	14	5	1004	5	CDC27	17	45219268	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	265201	45219268	35975942	3309	81127											
NPEPPS	9520	broad.mit.edu	37	chr17	45689927	45689927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggtttaaggaccacGtggaaggaaaacagattctc	12	9	12	8	3	1	1	0	0	1	1	4	4	1	4	1	4	1	1	1	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:45689927G>A	ENST00000322157.4	+	18	2434	c.2197G>A	c.(2197-2199)Gtg>Atg	p.V733M	RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V653M|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V729M	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	733					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TAAGGACCACGTGGAAGGAAA	0.458													22	52					0	0	0	0	A	45689927	G	A	45689927	3	1	408	1	0	0	0	0	1	0	0	0	10645	1145	40	1	2267	1	NPEPPS	17	45689927	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	470659	45689927	35505283	3310	81128											
HOXB3	3213	broad.mit.edu	37	chr17	46628440	46628440	+	Frame_Shift_Del	DEL	C	C	-																															gcccgcttggacgccgccgaCcccggggggctcttgtcccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:46628440delC	ENST00000470495.1	-	2	1999	c.552delG	c.(550-552)ggfs	p.G184fs	HOXB3_ENST00000472863.1_Frame_Shift_Del_p.G111fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.G184fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.G111fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.G52fs|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.G184fs|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.G50fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.G52fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.G184fs			P14651	HXB3_HUMAN	homeobox B3	184					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ACGCCGCCGACCCCGGGGGGC	0.761													19	74	---	---	---	---					-	46628440	C	-	46628440	7	5	408	1	0	1	0	1	0	0	0	0	7352	494	18	0	747	0	HOXB3	17	46628440	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	938513	46628440	34566770	3311	81129											
B4GALNT2	124872	broad.mit.edu	37	chr17	47243541	47243541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacgttctctgggtggaCgatgattttctcttcaacga	10	14	9	8	3	3	1	1	1	2	0	5	4	3	2	0	2	2	1	0	2	3	5	rs142560351	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:47243541C>T	ENST00000300404.2	+	9	1259	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	B4GALNT2_ENST00000504681.1_Silent_p.D314D|B4GALNT2_ENST00000393354.2_Silent_p.D340D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	400					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCTGGGTGGACGATGATTTTC	0.498													21	60					0	0	0	0	T	47243541	C	T	47243541	2	4	408	1	0	0	0	0	0	0	0	1	1271	535	19	1		1	B4GALNT2	17	47243541	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	615101	47243541	33951669	3312	81130											
NXPH3	11248	broad.mit.edu	37	chr17	47656067	47656067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggggccacatctcacCtaagtcccgccccatggcca	9	5	10	17	2	1	0	1	0	1	0	3	1	2	0	6	3	1	0	6	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:47656067C>A	ENST00000328741.5	+	2	526	c.164C>A	c.(163-165)cCt>cAt	p.P55H	NXPH3_ENST00000513748.1_Missense_Mutation_p.P55H	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	55	II.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CACATCTCACCTAAGTCCCGC	0.697													31	66					8.16721e-17	8.58394e-17	1	0	A	47656067	C	A	47656067	3	1	408	1	0	0	0	0	1	0	0	0	10863	681	24	4	170	4	NXPH3	17	47656067	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	412526	47656067	33539143	3313	81131											
SLC35B1	10237	broad.mit.edu	37	chr17	47780584	47780584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcccaaagagcaggAtgttatagatgatggcaggg	12	8	15	6	0	1	3	1	1	0	2	1	4	1	4	1	4	2	3	1	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:47780584A>G	ENST00000240333.6	-	7	849	c.728T>C	c.(727-729)aTc>aCc	p.I243T	SLC35B1_ENST00000415270.2_Missense_Mutation_p.I280T			P78383	S35B1_HUMAN	solute carrier family 35, member B1	243						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AAAGAGCAGGATGTTATAGAT	0.522													9	116					0	0	0	0	G	47780584	A	G	47780584	3	3	408	1	0	0	0	0	1	0	0	0	14663	333	12	5	252	5	SLC35B1	17	47780584	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	124517	47780584	33414626	3314	81132											
TMEM92	162461	broad.mit.edu	37	chr17	48356598	48356598	+	Frame_Shift_Del	DEL	C	C	-																															gcccaactcccacagagccaCcccctccctacagcttcagg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48356598delC	ENST00000300433.3	+	6	519	c.409delC	c.(409-411)ccfs	p.P139fs	TMEM92_ENST00000507382.1_Frame_Shift_Del_p.P139fs	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	139	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CACAGAGCCACCCCCTCCCTA	0.597													91	384	---	---	---	---					-	48356598	C	-	48356598	7	5	408	1	0	1	0	1	0	0	0	0	16315	507	18	0	427	0	TMEM92	17	48356598	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	576014	48356598	32838612	3315	81133											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-																															ttccacctgtatggcagctaCccccccggcacgccagccct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48433967delC	ENST00000017003.2	+	8	1627	c.1578delC	c.(1576-1578)tafs	p.Y526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	526					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602													39	90	---	---	---	---					-	48433967	C	-	48433967	7	5	408	1	0	1	0	1	0	0	0	0	17560	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	77369	48433967	32761243	3316	81134											
EME1	146956	broad.mit.edu	37	chr17	48457820	48457820	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcctggaaatggccagTgcagttgtgaatgcctatcc	9	10	12	10	0	1	1	1	1	0	0	2	2	2	2	4	2	3	2	4	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48457820T>C	ENST00000393271.2	+	8	1615	c.1533T>C	c.(1531-1533)agT>agC	p.S511S	EME1_ENST00000511648.2_Silent_p.S511S|EME1_ENST00000338165.4_Silent_p.S498S	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	498					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AAATGGCCAGTGCAGTTGTGA	0.622								Direct reversal of damage;Homologous recombination					15	70					0	0	0	0	C	48457820	T	C	48457820	2	2	408	1	0	0	0	0	0	0	0	1	5126	1693	59	5		5	EME1	17	48457820	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	23853	48457820	32737390	3317	81135											
CACNA1G	8913	broad.mit.edu	37	chr17	48692731	48692731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccatcagaagcccagtGcaaaccttactactccgact	11	8	6	16	1	1	1	1	0	0	1	2	2	2	1	5	0	6	1	5	0	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48692731G>A	ENST00000352832.5	+	25	5039	c.4667G>A	c.(4666-4668)tGc>tAc	p.C1556Y	CACNA1G_ENST00000514181.1_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.C1597Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.C1545Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.C1549Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.C1545Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000359106.5_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.C1533Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.C1538Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.C1567Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.C1567Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.C1579Y	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1590					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCCCAGTGCAAACCTTAC	0.632													18	53					0	0	0	0	A	48692731	G	A	48692731	3	1	408	1	0	0	0	0	1	0	0	0	2569	1319	46	4	5142	4	CACNA1G	17	48692731	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	234911	48692731	32502479	3318	81136											
LUC7L3	51747	broad.mit.edu	37	chr17	48819046	48819046	+	Frame_Shift_Del	DEL	A	A	-																															cccaacaggcaaaaatgaagAaaaaattcaggttctaacag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48819046delA	ENST00000505658.1	+	5	569	c.380delA	c.(379-381)gafs	p.E127fs	LUC7L3_ENST00000544170.1_Frame_Shift_Del_p.E51fs|LUC7L3_ENST00000240304.1_Frame_Shift_Del_p.E127fs|LUC7L3_ENST00000393227.2_Frame_Shift_Del_p.E127fs			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	127					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAATGAAGAAAAAATTCAG	0.363													15	63	---	---	---	---					-	48819046	A	-	48819046	7	5	408	1	0	1	0	1	0	0	0	0	9148	246	9	0	398	0	LUC7L3	17	48819046	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	126315	48819046	32376164	3319	81137											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917825	48917825	+	Frame_Shift_Del	DEL	G	G	-																															tgcagcctgcccgccctgcaGgggccctgcaaagcctacgc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48917825delG	ENST00000311378.4	+	2	1704	c.1176delG	c.(1174-1176)cafs	p.Q392fs	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.Q299fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	392	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCGCCCTGCAGGGGCCCTGCA	0.647													19	68	---	---	---	---					-	48917825	G	-	48917825	7	5	408	1	0	1	0	1	0	0	0	0	17455	991	35	0	1182	0	WFIKKN2	17	48917825	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	98779	48917825	32277385	3320	81138											
KIF2B	84643	broad.mit.edu	37	chr17	51900745	51900745	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgccacgaaatgggttgcGatgatcccccagaaaaacca	14	5	9	13	3	0	2	0	1	0	1	1	4	1	2	5	1	2	1	5	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:51900745G>A	ENST00000268919.4	+	1	507	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	117					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AATGGGTTGCGATGATCCCCC	0.597													48	118					0	0	0	0	A	51900745	G	A	51900745	2	1	408	1	0	0	0	0	0	0	0	1	8349	1045	37	1		1	KIF2B	17	51900745	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2982920	51900745	29294465	3321	81139											
COX11	1353	broad.mit.edu	37	chr17	53042129	53042129	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgcattaaagctaatttTaatgattcgatctttaacag	14	16	5	6	1	2	1	0	1	2	0	3	2	2	1	0	0	3	2	0	0	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:53042129T>A	ENST00000299335.3	-	2	589	c.451A>T	c.(451-453)Aaa>Taa	p.K151*	COX11_ENST00000571584.1_Nonsense_Mutation_p.K151*	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	151					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						AAGCTAATTTTAATGATTCGA	0.383													4	71					0	0	0	0	A	53042129	T	A	53042129	4	1	408	1	0	0	0	0	0	1	0	0	3793	1763	61	5	457	5	COX11	17	53042129	Nonsense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1141384	53042129	28153081	3322	81140											
DGKE	8526	broad.mit.edu	37	chr17	54933949	54933949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcatgctcatcgtgagaAggcaccatctctgttttcta	8	16	7	10	1	4	1	2	1	2	1	6	2	4	1	1	1	1	3	1	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:54933949A>G	ENST00000284061.3	+	8	1355	c.1175A>G	c.(1174-1176)aAg>aGg	p.K392R		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	392					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CATCGTGAGAAGGCACCATCT	0.373													5	20					0	0	0	0	G	54933949	A	G	54933949	3	3	408	1	0	0	0	0	1	0	0	0	4505	72	3	5	1201	5	DGKE	17	54933949	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1891820	54933949	26261261	3323	81141											
DYNLL2	140735	broad.mit.edu	37	chr17	56164482	56164482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggcagtgatcaagaacGcagacatgtctgaggacatg	14	6	14	7	1	2	4	1	2	1	2	2	6	2	6	0	3	1	2	0	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:56164482G>A	ENST00000240343.6	+	2	309	c.31G>A	c.(31-33)Gca>Aca	p.A11T		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	11					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity			lung(3)	3						GATCAAGAACGCAGACATGTC	0.502													13	45					0	0	0	0	A	56164482	G	A	56164482	3	1	408	1	0	0	0	0	1	0	0	0	4885	1087	38	1	33	1	DYNLL2	17	56164482	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1230533	56164482	25030728	3324	81142											
MPO	4353	broad.mit.edu	37	chr17	56355299	56355299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggaagcgctggttgaCggccagcagccccagctggt	6	8	15	12	2	1	1	0	1	1	0	1	2	1	2	3	4	4	4	3	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:56355299C>T	ENST00000340482.3	-	6	1365	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I	MPO_ENST00000225275.3_Missense_Mutation_p.V365I|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	365					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGCTGGTTGACGGCCAGCAGC	0.657													26	65					0	0	0	0	T	56355299	C	T	56355299	3	4	408	1	0	0	0	0	1	0	0	0	9802	536	19	1	1168	1	MPO	17	56355299	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	190817	56355299	24839911	3325	81143											
HSF5	124535	broad.mit.edu	37	chr17	56557547	56557548	+	Frame_Shift_Ins	INS	-	-	G																															agggtaagtactgtggtcgtINSgggatggagttgatacacag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:56557547_56557548insG	ENST00000323777.3	-	2	740_741	c.631_632insC	c.(631-633)cgafs	p.R211fs		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTGTGGTCGTGGGATGGAGTT	0.475													37	87	---	---	---	---					G	56557548	-	G	56557547	7	5	408	1	0	1	1	0	0	0	0	0	7449	1696	59	0	1178	0	HSF5	17	56557547	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	202248	56557547	24637663	3326	81144											
HSF5	124535	broad.mit.edu	37	chr17	56565313	56565313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggttgtggaagtgatggAgcggcccattgcctgccggt	5	9	18	9	3	0	1	0	1	0	0	0	3	0	3	3	5	3	1	3	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:56565313A>G	ENST00000323777.3	-	1	432	c.323T>C	c.(322-324)cTc>cCc	p.L108P		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAGTGATGGAGCGGCCCATT	0.682													12	31					0	0	0	0	G	56565313	A	G	56565313	3	3	408	1	0	0	0	0	1	0	0	0	7449	304	11	5	1491	5	HSF5	17	56565313	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7766	56565313	24629897	3327	81145											
APPBP2	10513	broad.mit.edu	37	chr17	58571911	58571911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaccgcctactgaatgagtAggccaagactgaagcaactt	13	7	10	11	1	0	4	0	3	0	1	0	4	0	4	3	1	3	3	3	1	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:58571911A>G	ENST00000083182.3	-	3	582	c.295T>C	c.(295-297)Tac>Cac	p.Y99H		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	99					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			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)			CTGAATGAGTAGGCCAAGACT	0.373													12	99					0	0	0	0	G	58571911	A	G	58571911	3	3	408	1	0	0	0	0	1	0	0	0	818	420	15	5	1506	5	APPBP2	17	58571911	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2006598	58571911	22623299	3328	81146											
TBX4	9496	broad.mit.edu	37	chr17	59544957	59544957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagcccactggatgcGgcagctggtctccttccaga	8	7	12	14	1	1	1	0	0	1	1	3	3	2	3	3	4	3	2	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:59544957G>A	ENST00000393853.4	+	5	651	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	TBX4_ENST00000240335.1_Missense_Mutation_p.R163Q			P57082	TBX4_HUMAN	T-box 4	163					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CACTGGATGCGGCAGCTGGTC	0.612													27	73					0	0	0	0	A	59544957	G	A	59544957	3	1	408	1	0	0	0	0	1	0	0	0	15754	1116	39	1	502	1	TBX4	17	59544957	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	973046	59544957	21650253	3329	81147											
NACA2	342538	broad.mit.edu	37	chr17	59668030	59668030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctacacctgtttcatcgAcctcttcctcttcactctcc	5	16	2	18	1	6	0	2	0	4	0	9	1	7	0	4	0	1	1	4	0	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:59668030A>G	ENST00000521764.1	-	1	533	c.512T>C	c.(511-513)gTc>gCc	p.V171A		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	171					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGTTTCATCGACCTCTTCCTC	0.448													8	297					0	0	0	0	G	59668030	A	G	59668030	3	3	408	1	0	0	0	0	1	0	0	0	10204	275	10	5	139	5	NACA2	17	59668030	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	123073	59668030	21527180	3330	81148											
MED13	9969	broad.mit.edu	37	chr17	60033826	60033826	+	Frame_Shift_Del	DEL	T	T	-																															accaaattttctagcagaacTttttttccgacgagccctat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:60033826delT	ENST00000397786.2	-	24	5573	c.5497delA	c.(5497-5499)gtfs	p.S1834fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1834					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTAGCAGAACTTTTTTTCCGA	0.363													20	83	---	---	---	---					-	60033826	T	-	60033826	7	5	408	1	0	1	0	1	0	0	0	0	9499	1609	56	0	1055	0	MED13	17	60033826	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	365796	60033826	21161384	3331	81149											
ACE	1636	broad.mit.edu	37	chr17	61574234	61574234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggccagcccaacatgagCgcctcggccatgttgagcta	9	6	12	14	3	0	2	0	2	0	0	1	2	0	2	4	2	4	2	4	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:61574234C>T	ENST00000577647.1	+	13	1902	c.1857C>T	c.(1855-1857)agC>agT	p.S619S	ACE_ENST00000290866.4_Silent_p.S1193S|ACE_ENST00000290863.6_Silent_p.S619S|ACE_ENST00000413513.3_Silent_p.S578S|ACE_ENST00000421982.2_Silent_p.S398S|ACE_ENST00000490216.2_Silent_p.S619S|ACE_ENST00000428043.1_Intron			P12821	ACE_HUMAN	angiotensin I converting enzyme	1193	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCAACATGAGCGCCTCGGCCA	0.642													15	40					0	0	0	0	T	61574234	C	T	61574234	2	4	408	1	0	0	0	0	0	0	0	1	136	767	27	1		1	ACE	17	61574234	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1540408	61574234	19620976	3332	81150											
DCAF7	10238	broad.mit.edu	37	chr17	61628097	61628097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagcgccctggacagtctAcgcgatgaactggagtgtgc	9	8	14	10	3	1	2	0	2	1	0	1	5	1	4	1	2	4	0	1	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:61628097A>G	ENST00000310827.4	+	1	276	c.59A>G	c.(58-60)tAc>tGc	p.Y20C	DCAF7_ENST00000431926.1_Missense_Mutation_p.Y20C|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.Y20C	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	20					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TGGACAGTCTACGCGATGAAC	0.637													4	117					0	0	0	0	G	61628097	A	G	61628097	3	3	408	1	0	0	0	0	1	0	0	0	4308	391	14	5	61	5	DCAF7	17	61628097	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	53863	61628097	19567113	3333	81151											
MAP3K3	4215	broad.mit.edu	37	chr17	61769157	61769157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtgacccgaaagtacaCgcggcagatcctggagggca	11	4	15	11	4	0	2	0	1	0	1	1	5	1	3	2	3	2	3	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:61769157C>T	ENST00000361357.3	+	15	1820	c.1502C>T	c.(1501-1503)aCg>aTg	p.T501M	MAP3K3_ENST00000584573.1_Missense_Mutation_p.T497M|MAP3K3_ENST00000579585.1_Missense_Mutation_p.T501M|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T466M|MAP3K3_ENST00000361733.3_Missense_Mutation_p.T470M	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	470	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGAAAGTACACGCGGCAGATC	0.577													78	215					0	0	0	0	T	61769157	C	T	61769157	3	4	408	1	0	0	0	0	1	0	0	0	9320	536	19	1	1560	1	MAP3K3	17	61769157	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	141060	61769157	19426053	3334	81152											
MAP3K3	4215	broad.mit.edu	37	chr17	61770959	61770959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagaaaccaccgtgggCagagtatgaagctatggccg	13	5	14	9	2	0	3	0	1	0	2	0	5	0	3	3	2	2	3	3	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:61770959C>T	ENST00000361357.3	+	17	2114	c.1796C>T	c.(1795-1797)gCa>gTa	p.A599V	MAP3K3_ENST00000584573.1_Missense_Mutation_p.A595V|MAP3K3_ENST00000579585.1_Missense_Mutation_p.A599V|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A564V|MAP3K3_ENST00000361733.3_Missense_Mutation_p.A568V	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	568	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCACCGTGGGCAGAGTATGAA	0.602													35	107					0	0	0	0	T	61770959	C	T	61770959	3	4	408	1	0	0	0	0	1	0	0	0	9320	710	25	4	1862	4	MAP3K3	17	61770959	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1802	61770959	19424251	3335	81153											
SCN4A	6329	broad.mit.edu	37	chr17	62036778	62036778	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcagaaccatctctgcTgtgaagatgcctgtgaagac	11	10	10	10	0	2	5	1	2	1	3	3	5	2	5	2	0	4	2	2	0	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:62036778T>C	ENST00000435607.1	-	12	1942	c.1866A>G	c.(1864-1866)acA>acG	p.T622T	SCN4A_ENST00000578147.1_Silent_p.T622T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	622					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCATCTCTGCTGTGAAGATGC	0.582													10	32					0	0	0	0	C	62036778	T	C	62036778	2	2	408	1	0	0	0	0	0	0	0	1	14007	1567	55	5		5	SCN4A	17	62036778	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	265819	62036778	19158432	3336	81154											
LRRC37A3	374819	broad.mit.edu	37	chr17	62865264	62865264	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatcttcaacagttgtcAgaggattgtgattgagaatt	12	14	11	4	0	3	3	2	2	1	2	3	6	3	5	0	2	1	1	0	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:62865264A>G	ENST00000584306.1	-	8	3457	c.2927T>C	c.(2926-2928)cTg>cCg	p.L976P	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L94P|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L976P|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L14P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	976						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AACAGTTGTCAGAGGATTGTG	0.299													32	131					0	0	0	0	G	62865264	A	G	62865264	3	3	408	1	0	0	0	0	1	0	0	0	9057	188	7	5	2005	5	LRRC37A3	17	62865264	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	828486	62865264	18329946	3337	81155											
CACNG4	27092	broad.mit.edu	37	chr17	65026608	65026608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacatcatcggtatcatcGtctacatttccagcaacaca	13	11	5	12	2	3	0	2	0	1	0	6	0	4	0	1	1	4	3	1	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65026608G>A	ENST00000262138.3	+	4	474	c.472G>A	c.(472-474)Gtc>Atc	p.V158I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	158					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGGTATCATCGTCTACATTTC	0.552													60	165					0	0	0	0	A	65026608	G	A	65026608	3	1	408	1	0	0	0	0	1	0	0	0	2584	1145	40	1	486	1	CACNG4	17	65026608	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2161344	65026608	16168602	3338	81156											
NOL11	25926	broad.mit.edu	37	chr17	65714141	65714141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggactcctaggcgtggaGcagagcgacaaaacagacca	15	3	13	10	2	0	2	0	0	0	2	1	6	1	4	2	3	3	1	2	3	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65714141G>A	ENST00000253247.4	+	1	193	c.78G>A	c.(76-78)gaG>gaA	p.E26E	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	26						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGGCGTGGAGCAGAGCGACA	0.552											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	87					0	0	0	0	A	65714141	G	A	65714141	2	1	408	1	0	0	0	0	0	0	0	1	10591	962	34	4		4	NOL11	17	65714141	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	687533	65714141	15481069	3339	81157											
NOL11	25926	broad.mit.edu	37	chr17	65732044	65732044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggagaacatttgtttaTgctacatggaaaatctctaa	14	15	7	5	0	1	1	0	0	1	1	2	3	1	2	0	2	3	2	0	2	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65732044T>C	ENST00000253247.4	+	9	1074	c.959T>C	c.(958-960)aTg>aCg	p.M320T	NOL11_ENST00000535137.1_Missense_Mutation_p.M138T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	320						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATTTGTTTATGCTACATGGA	0.343													11	43					0	0	0	0	C	65732044	T	C	65732044	3	2	408	1	0	0	0	0	1	0	0	0	10591	1464	51	5	993	5	NOL11	17	65732044	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	17903	65732044	15463166	3340	81158											
NOL11	25926	broad.mit.edu	37	chr17	65735667	65735667	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatttcctgtacctgaaGtgtagcgaaaatgctactat	11	15	8	7	1	0	1	0	1	0	0	1	2	1	1	2	0	4	4	2	0	8	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65735667G>A	ENST00000253247.4	+	16	1993	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	NOL11_ENST00000535137.1_Silent_p.K444K	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	626						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTACCTGAAGTGTAGCGAAA	0.338													16	46					0	0	0	0	A	65735667	G	A	65735667	2	1	408	1	0	0	0	0	0	0	0	1	10591	1020	36	4		4	NOL11	17	65735667	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3623	65735667	15459543	3341	81159											
BPTF	2186	broad.mit.edu	37	chr17	65936555	65936555	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttttgctgtttgggtagGtgctcctcagcaagtgatga	7	15	13	6	0	1	2	1	2	0	0	2	2	2	2	1	2	3	6	1	2	2	4	rs148259687		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65936555G>T	ENST00000321892.4	+	21	6699	c.6637_splice	c.e21-1	p.G2213_splice	BPTF_ENST00000335221.5_Splice_Site_p.G2213_splice|BPTF_ENST00000424123.3_Splice_Site_p.G2074_splice|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000306378.6_Splice_Site_p.G2087_splice			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2213					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTTGGGTAGGTGCTCCTCAG	0.448													9	21					1.76689e-08	1.82224e-08	1	0	T	65936555	G	T	65936555	5	4	408	1	0	0	0	0	0	0	1	0	1503	1275	44	4	6720	4	BPTF	17	65936555	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	200888	65936555	15258655	3342	81160											
KPNA2	3838	broad.mit.edu	37	chr17	66039096	66039096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggctctccttgcagttcCtgatatgtcatctttagcag	6	16	9	10	0	3	1	1	1	2	0	5	1	4	1	2	1	2	5	2	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:66039096C>G	ENST00000537025.2	+	6	1267	c.647C>G	c.(646-648)cCt>cGt	p.P216R	KPNA2_ENST00000330459.3_Missense_Mutation_p.P216R			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	216	NLS binding site (major) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTGCAGTTCCTGATATGTCA	0.398													86	249					0	0	0	0	G	66039096	C	G	66039096	3	3	408	1	0	0	0	0	1	0	0	0	8482	681	24	4	665	4	KPNA2	17	66039096	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	102541	66039096	15156114	3343	81161											
ABCA9	10350	broad.mit.edu	37	chr17	66980290	66980290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagggcgcccctctccgtgTttctaaaggtggcccgaatc	6	9	13	13	3	2	0	0	0	2	0	4	2	2	1	4	4	0	1	4	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:66980290T>C	ENST00000340001.4	-	35	4617	c.4406A>G	c.(4405-4407)aAc>aGc	p.N1469S	ABCA9_ENST00000453985.2_Missense_Mutation_p.N1431S|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1469	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTCTCCGTGTTTCTAAAGGT	0.512													4	99					0	0	0	0	C	66980290	T	C	66980290	3	2	408	1	0	0	0	0	1	0	0	0	39	1725	60	5	488	5	ABCA9	17	66980290	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	941194	66980290	14214920	3344	81162											
ABCA9	10350	broad.mit.edu	37	chr17	67029943	67029943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaacatgaaaagagtagcTattatgaggtatggattttg	15	12	10	4	0	0	3	0	2	0	1	0	4	0	4	1	2	2	3	1	2	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:67029943T>C	ENST00000340001.4	-	9	1411	c.1200A>G	c.(1198-1200)atA>atG	p.I400M	ABCA9_ENST00000453985.2_Missense_Mutation_p.I400M|ABCA9_ENST00000370732.2_Missense_Mutation_p.I400M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	400					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAGAGTAGCTATTATGAGGT	0.323													7	99					0	0	0	0	C	67029943	T	C	67029943	3	2	408	1	0	0	0	0	1	0	0	0	39	1512	53	5	3798	5	ABCA9	17	67029943	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	49653	67029943	14165267	3345	81163											
ABCA6	23460	broad.mit.edu	37	chr17	67080594	67080594	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcgtgattcctgctgtTaatttctgcacaggaacatt	8	17	7	9	1	2	1	0	1	2	0	4	2	3	2	1	1	3	3	1	1	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:67080594T>C	ENST00000284425.2	-	33	4413	c.4239A>G	c.(4237-4239)ttA>ttG	p.L1413L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1413	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCCTGCTGTTAATTTCTGCA	0.443													10	335					0	0	0	0	C	67080594	T	C	67080594	2	2	408	1	0	0	0	0	0	0	0	1	36	1751	61	5		5	ABCA6	17	67080594	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	50651	67080594	14114616	3346	81164											
SOX9	6662	broad.mit.edu	37	chr17	70120498	70120498	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccccagcactgggaacaAcccgtctacacacagctcac	12	4	7	18	1	2	0	1	0	1	0	2	1	2	1	3	1	6	2	3	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:70120498A>G	ENST00000245479.2	+	3	1872	c.1500A>G	c.(1498-1500)caA>caG	p.Q500Q		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	500					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTGGGAACAACCCGTCTACA	0.597													28	86					0	0	0	0	G	70120498	A	G	70120498	2	3	408	1	0	0	0	0	0	0	0	1	15046	40	2	5		5	SOX9	17	70120498	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3039904	70120498	11074712	3347	81165											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281934	71281934	+	Frame_Shift_Del	DEL	C	C	-																															atcgccatggtaaccaccctCcccctcctcggggtcccact																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:71281934delC	ENST00000335793.3	-	2	1100	c.706delG	c.(706-708)agfs	p.E236fs	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Frame_Shift_Del_p.E166fs			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	236					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TAACCACCCTCCCCCTCCTCG	0.672													11	56	---	---	---	---					-	71281934	C	-	71281934	7	5	408	1	0	1	0	1	0	0	0	0	3107	864	30	0	368	0	CDC42EP4	17	71281934	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	1161436	71281934	9913276	3348	81166											
SDK2	54549	broad.mit.edu	37	chr17	71344855	71344855	+	Frame_Shift_Del	DEL	G	G	-																															aggctgcctgggctgggcctGgggggagacctggagagagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:71344855delG	ENST00000392650.3	-	44	6048	c.6048delC	c.(6046-6048)ccfs	p.P2016fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.P1997fs|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2016					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCTGGGCCTGGGGGGAGACC	0.657													18	68	---	---	---	---					-	71344855	G	-	71344855	7	5	408	1	0	1	0	1	0	0	0	0	14056	1335	47	0	478	0	SDK2	17	71344855	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	62921	71344855	9850355	3349	81167											
SDK2	54549	broad.mit.edu	37	chr17	71348618	71348618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggccggtacctggcaCagactgggaggggctgctgg	6	5	17	13	1	0	1	0	0	0	1	0	2	0	2	4	7	2	4	4	7	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:71348618C>T	ENST00000392650.3	-	41	5752	c.5752G>A	c.(5752-5754)Gtg>Atg	p.V1918M	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.V1899M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1918	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTACCTGGCACAGACTGGGAG	0.667													7	22					0	0	0	0	T	71348618	C	T	71348618	3	4	408	1	0	0	0	0	1	0	0	0	14056	478	17	4	786	4	SDK2	17	71348618	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3763	71348618	9846592	3350	81168											
TTYH2	94015	broad.mit.edu	37	chr17	72227104	72227104	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgtactccttggacgAtgccaaccacaccttctctg	8	11	8	14	1	1	1	0	1	1	0	3	3	2	2	4	1	3	2	4	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:72227104A>C	ENST00000269346.4	+	3	454	c.380A>C	c.(379-381)gAt>gCt	p.D127A	TTYH2_ENST00000529107.1_Missense_Mutation_p.D106A	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	127						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCTTGGACGATGCCAACCAC	0.577													22	80					0	0	0	0	C	72227104	A	C	72227104	3	2	408	1	0	0	0	0	1	0	0	0	16836	333	12	5	390	5	TTYH2	17	72227104	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	878486	72227104	8968106	3351	81169											
RAB37	326624	broad.mit.edu	37	chr17	72739307	72739307	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacggttccgaagcgtcAcccatgcttattacagagat	12	9	10	10	3	1	1	1	0	0	1	2	4	2	2	2	2	4	2	2	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:72739307A>G	ENST00000340415.3	+	4	1274	c.265A>G	c.(265-267)Acc>Gcc	p.T89A	RAB37_ENST00000392612.3_Missense_Mutation_p.T59A|RAB37_ENST00000528438.1_Missense_Mutation_p.T69A|RAB37_ENST00000392615.5_Missense_Mutation_p.T64A|RAB37_ENST00000392614.4_Missense_Mutation_p.T101A|RAB37_ENST00000402449.4_Missense_Mutation_p.T89A|RAB37_ENST00000392613.5_Missense_Mutation_p.T96A|RAB37_ENST00000392610.1_Missense_Mutation_p.T96A	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	96					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CCGAAGCGTCACCCATGCTTA	0.592													49	141					0	0	0	0	G	72739307	A	G	72739307	3	3	408	1	0	0	0	0	1	0	0	0	13009	159	6	5	603	5	RAB37	17	72739307	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	512203	72739307	8455903	3352	81170											
GRIN2C	2905	broad.mit.edu	37	chr17	72840621	72840621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagatccctgagagccAcactgtctccagtttctgtg	7	11	10	13	0	2	2	0	1	2	2	4	3	3	2	3	1	1	2	3	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:72840621A>G	ENST00000293190.5	-	12	2523	c.2377T>C	c.(2377-2379)Tgg>Cgg	p.W793R	GRIN2C_ENST00000347612.4_Missense_Mutation_p.W793R	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	793					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCTGAGAGCCACACTGTCTCC	0.542													34	76					0	0	0	0	G	72840621	A	G	72840621	3	3	408	1	0	0	0	0	1	0	0	0	6831	159	6	5	1332	5	GRIN2C	17	72840621	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	101314	72840621	8354589	3353	81171											
ATP5H	10476	broad.mit.edu	37	chr17	73038718	73038718	+	Frame_Shift_Del	DEL	T	T	-																															aaaagctacccagtcaatggTttttagagcaagttttcgcc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73038718delT	ENST00000301587.4	-	2	75	c.28delA	c.(28-30)ccfs	p.T10fs	KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Frame_Shift_Del_p.T10fs|KCTD2_ENST00000584767.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	10					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					CAGTCAATGGTTTTTAGAGCA	0.418													59	166	---	---	---	---					-	73038718	T	-	73038718	7	5	408	1	0	1	0	1	0	0	0	0	1160	1725	60	0	477	0	ATP5H	17	73038718	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	198097	73038718	8156492	3354	81172											
SLC16A5	9121	broad.mit.edu	37	chr17	73096565	73096565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtggcacagcgtggaCgagcagcaggcagccctcct	8	5	14	14	2	0	0	0	0	0	0	1	2	1	1	3	3	4	4	3	3	0	0	rs61750012		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73096565C>T	ENST00000450736.2	+	4	1222	c.807C>T	c.(805-807)gaC>gaT	p.D269D	SLC16A5_ENST00000538213.2_Silent_p.D309D|SLC16A5_ENST00000329783.4_Silent_p.D269D|SLC16A5_ENST00000580123.1_Silent_p.D269D			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	269					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	ACAGCGTGGACGAGCAGCAGG	0.612													8	49					0	0	0	0	T	73096565	C	T	73096565	2	4	408	1	0	0	0	0	0	0	0	1	14499	535	19	1		1	SLC16A5	17	73096565	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	57847	73096565	8098645	3355	81173											
LLGL2	3993	broad.mit.edu	37	chr17	73564668	73564668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctacctggcttctctgcActgttccgccatcacctgct	4	12	7	18	1	2	0	1	0	1	0	4	0	3	0	5	1	3	4	5	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73564668A>G	ENST00000392550.3	+	11	1265	c.1148A>G	c.(1147-1149)cAc>cGc	p.H383R	LLGL2_ENST00000167462.5_Missense_Mutation_p.H383R|LLGL2_ENST00000577200.1_Missense_Mutation_p.H383R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	383					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTTCTCTGCACTGTTCCGCC	0.637													4	60					0	0	0	0	G	73564668	A	G	73564668	3	3	408	1	0	0	0	0	1	0	0	0	8889	159	6	5	1221	5	LLGL2	17	73564668	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	468103	73564668	7630542	3356	81174											
LLGL2	3993	broad.mit.edu	37	chr17	73564757	73564757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccggcagccggcagaacGcacacttctccaccatggta	9	5	10	17	4	1	1	0	0	1	1	2	1	1	1	5	3	2	4	5	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73564757G>A	ENST00000392550.3	+	11	1354	c.1237G>A	c.(1237-1239)Gca>Aca	p.A413T	LLGL2_ENST00000167462.5_Missense_Mutation_p.A413T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A413T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	413					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCGGCAGAACGCACACTTCTC	0.612													20	58					0	0	0	0	A	73564757	G	A	73564757	3	1	408	1	0	0	0	0	1	0	0	0	8889	1087	38	1	1310	1	LLGL2	17	73564757	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	89	73564757	7630453	3357	81175											
ITGB4	3691	broad.mit.edu	37	chr17	73725372	73725373	+	Frame_Shift_Ins	INS	-	-	C																															gagccctggcccaacagtgaINScccccccttctccttcaaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73725372_73725373insC	ENST00000200181.3	+	7	780_781	c.593_594insC	c.(592-594)gccfs	p.A198fs	ITGB4_ENST00000450894.3_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000579662.1_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000339591.3_Frame_Shift_Ins_p.A198fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	198	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.D198D(1)|p.F201fs*9(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAACAGTGACCCCCCCTTCT	0.599													32	63	---	---	---	---					C	73725373	-	C	73725372	7	5	408	1	0	1	1	0	0	0	0	0	7950	275	10	0	615	0	ITGB4	17	73725372	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	160615	73725372	7469838	3358	81176											
EVPL	2125	broad.mit.edu	37	chr17	74005594	74005594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgggcagcagcttctccAcctccttctccacaccgctc	5	9	8	19	2	2	0	0	0	2	0	7	0	3	0	5	2	2	4	5	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:74005594A>G	ENST00000301607.3	-	22	3945	c.3692T>C	c.(3691-3693)gTg>gCg	p.V1231A	EVPL_ENST00000586740.1_Missense_Mutation_p.V1253A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1231	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGCTTCTCCACCTCCTTCTC	0.637													41	110					0	0	0	0	G	74005594	A	G	74005594	3	3	408	1	0	0	0	0	1	0	0	0	5330	159	6	5	2413	5	EVPL	17	74005594	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	280222	74005594	7189616	3359	81177											
ZACN	353174	broad.mit.edu	37	chr17	74077706	74077707	+	Frame_Shift_Ins	INS	-	-	G																															tgctgttggctgacgtgtgcINSggggggttgctgcccctccg																								rs146722649		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:74077706_74077707insG	ENST00000334586.5	+	7	833_834	c.750_751insG	c.(748-753)tgggggfs	p.WG250fs	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	250	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGACGTGTGCGGGGGGTTGCT	0.614													59	199	---	---	---	---					G	74077707	-	G	74077706	7	5	408	1	0	1	1	0	0	0	0	0	17606	776	27	0	776	0	ZACN	17	74077706	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	72112	74077706	7117504	3360	81178											
MFSD11	79157	broad.mit.edu	37	chr17	74774350	74774350	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggtcatggtgatatttggGttttttggaacaatttcttt	7	20	10	4	0	2	1	1	1	1	0	2	2	2	2	0	4	1	1	0	4	3	7	rs143254714	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:74774350G>T	ENST00000588460.1	+	13	3308	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	MFSD11_ENST00000355954.3_Silent_p.G370G|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.G422G|MFSD11_ENST00000336509.4_Silent_p.G422G|MFSD11_ENST00000586622.1_Silent_p.G422G|MFSD11_ENST00000593181.1_Silent_p.G370G	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	422						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGATATTTGGGTTTTTTGGAA	0.468													4	106					0.00024832	0.000251724	1	0	T	74774350	G	T	74774350	2	4	408	1	0	0	0	0	0	0	0	1	9598	1248	44	4		4	MFSD11	17	74774350	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	696644	74774350	6420860	3361	81179											
MGAT5B	146664	broad.mit.edu	37	chr17	74878310	74878310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaagcgcatggacGcactggccaggctggagaac	10	6	16	9	2	0	3	0	2	0	1	0	5	0	4	1	5	2	3	1	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:74878310G>A	ENST00000569840.2	+	3	833	c.259G>A	c.(259-261)Gca>Aca	p.A87T	MGAT5B_ENST00000301618.4_Missense_Mutation_p.A87T|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A98T|MGAT5B_ENST00000565675.1_Missense_Mutation_p.A87T	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	87						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCATGGACGCACTGGCCAG	0.677													21	41					0	0	0	0	A	74878310	G	A	74878310	3	1	408	1	0	0	0	0	1	0	0	0	9618	1087	38	1	370	1	MGAT5B	17	74878310	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	103960	74878310	6316900	3362	81180											
SEC14L1	6397	broad.mit.edu	37	chr17	75205426	75205426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtttcttcttccagtgCgaagtgccagagggtggact	6	13	13	9	1	2	1	0	0	2	1	3	3	3	2	2	2	2	1	2	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:75205426C>T	ENST00000413679.2	+	14	1782	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C	SEC14L1_ENST00000436233.4_Silent_p.C493C|SEC14L1_ENST00000431431.2_Silent_p.C459C|SEC14L1_ENST00000443798.4_Silent_p.C493C|SEC14L1_ENST00000392476.2_Silent_p.C493C|SEC14L1_ENST00000585618.1_Silent_p.C493C|SEC14L1_ENST00000591437.1_Silent_p.C459C|SEC14L1_ENST00000430767.4_Silent_p.C493C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	493	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCTTCCAGTGCGAAGTGCCAG	0.547													16	43					0	0	0	0	T	75205426	C	T	75205426	2	4	408	1	0	0	0	0	0	0	0	1	14068	776	27	1		1	SEC14L1	17	75205426	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	327116	75205426	5989784	3363	81181											
DNAH17	8632	broad.mit.edu	37	chr17	76430135	76430135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttggcctccaggtagttgTagagcacgttgatggagatg	8	11	16	6	1	0	3	0	1	0	2	1	4	1	3	2	4	1	6	2	4	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76430135T>C	ENST00000389840.5	-	75	12306	c.12182A>G	c.(12181-12183)tAc>tGc	p.Y4061C	DNAH17_ENST00000585328.1_Missense_Mutation_p.Y4062C|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGTAGTTGTAGAGCACGTT	0.612													51	168					0	0	0	0	C	76430135	T	C	76430135	3	2	408	1	0	0	0	0	1	0	0	0	4638	1638	57	5	1216	5	DNAH17	17	76430135	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1224709	76430135	4765075	3364	81182											
DNAH17	8632	broad.mit.edu	37	chr17	76455109	76455109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtttttgatccgggacaGcttctcttgtgcctctgcca	4	16	9	12	1	2	1	0	1	2	0	4	2	3	2	3	1	3	2	3	1	0	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76455109G>T	ENST00000389840.5	-	61	9917	c.9793C>A	c.(9793-9795)Ctg>Atg	p.L3265M	DNAH17_ENST00000585328.1_Missense_Mutation_p.L3274M|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCGGGACAGCTTCTCTTGT	0.587													4	140					0.150653	0.150988	1	0	T	76455109	G	T	76455109	3	4	408	1	0	0	0	0	1	0	0	0	4638	962	34	4	3637	4	DNAH17	17	76455109	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	24974	76455109	4740101	3365	81183											
DNAH17	8632	broad.mit.edu	37	chr17	76491108	76491108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccagaaggcgggctTccagaaagccctcggccatg	8	6	13	14	2	0	2	0	0	0	2	3	2	2	2	5	4	1	1	5	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76491108T>C	ENST00000389840.5	-	39	6057	c.5933A>G	c.(5932-5934)gAa>gGa	p.E1978G	DNAH17_ENST00000585328.1_Missense_Mutation_p.E1987G|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGGCGGGCTTCCAGAAAGCC	0.607													3	23					0	0	0	0	C	76491108	T	C	76491108	3	2	408	1	0	0	0	0	1	0	0	0	4638	1783	62	5	7585	5	DNAH17	17	76491108	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	35999	76491108	4704102	3366	81184											
DNAH17	8632	broad.mit.edu	37	chr17	76568831	76568831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgcccaggtgctccggaAtaggcagcaaggttttgcct	7	9	14	11	1	0	0	0	0	0	0	1	1	1	1	3	5	4	5	3	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76568831A>T	ENST00000389840.5	-	3	615	c.491T>A	c.(490-492)aTt>aAt	p.I164N	DNAH17_ENST00000585328.1_Missense_Mutation_p.I164N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGCTCCGGAATAGGCAGCAA	0.587													4	18					0	0	0	0	T	76568831	A	T	76568831	3	4	408	1	0	0	0	0	1	0	0	0	4638	101	4	5	13213	5	DNAH17	17	76568831	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	77723	76568831	4626379	3367	81185											
USP36	57602	broad.mit.edu	37	chr17	76803168	76803168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctgctccacttggcggcGttttggagtggccagcggtg	5	11	15	10	3	1	0	0	0	1	0	2	1	2	1	2	5	2	2	2	5	1	3	rs143765903	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76803168G>A	ENST00000312010.6	-	14	2282	c.1958C>T	c.(1957-1959)aCg>aTg	p.T653M	USP36_ENST00000542802.2_Missense_Mutation_p.T653M|USP36_ENST00000449938.2_Missense_Mutation_p.T353M	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	653					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ACTTGGCGGCGTTTTGGAGTG	0.607													23	61					0	0	0	0	A	76803168	G	A	76803168	3	1	408	1	0	0	0	0	1	0	0	0	17163	1145	40	1	1441	1	USP36	17	76803168	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	234337	76803168	4392042	3368	81186											
TIMP2	7077	broad.mit.edu	37	chr17	76867073	76867073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataaactctatatccttctCaggccctttgaacatctgga	11	13	6	11	0	3	1	1	1	3	0	5	3	4	2	2	2	2	0	2	2	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76867073C>G	ENST00000262768.7	-	3	545	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	TIMP2_ENST00000585421.1_Missense_Mutation_p.E6Q|TIMP2_ENST00000586057.1_Missense_Mutation_p.E6Q|TIMP2_ENST00000536189.2_Missense_Mutation_p.E6Q	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	83	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			ATATCCTTCTCAGGCCCTTTG	0.532													42	91					0	0	0	0	G	76867073	C	G	76867073	3	3	408	1	0	0	0	0	1	0	0	0	16012	835	29	2	427	2	TIMP2	17	76867073	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	63905	76867073	4328137	3369	81187											
CBX2	84733	broad.mit.edu	37	chr17	77757830	77757830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaaggatctgggggccccGgccagcaagctgccccctcc	6	4	14	17	2	1	0	0	0	1	0	2	2	2	2	6	5	3	2	6	5	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:77757830G>A	ENST00000310942.4	+	5	692	c.588G>A	c.(586-588)ccG>ccA	p.P196P		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	196					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGGGCCCCGGCCAGCAAGC	0.701													22	45					0	0	0	0	A	77757830	G	A	77757830	2	1	408	1	0	0	0	0	0	0	0	1	2743	1103	39	1		1	CBX2	17	77757830	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	890757	77757830	3437380	3370	81188											
CBX2	84733	broad.mit.edu	37	chr17	77758181	77758181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatcccgaaggcccccagCggtggggctgtggagcagaa	11	4	15	11	2	0	1	0	0	0	1	1	3	1	2	3	5	2	2	3	5	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:77758181C>T	ENST00000310942.4	+	5	1043	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	313					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.S313S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGCCCCCAGCGGTGGGGCTG	0.677													8	35					0	0	0	0	T	77758181	C	T	77758181	2	4	408	1	0	0	0	0	0	0	0	1	2743	767	27	1		1	CBX2	17	77758181	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	351	77758181	3437029	3371	81189											
TBC1D16	125058	broad.mit.edu	37	chr17	77984303	77984303	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgcggtctggaacactctgGgccaccaccaggatgtcctc	8	8	11	14	1	2	0	0	0	2	0	4	2	3	2	4	4	2	0	4	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:77984303G>T	ENST00000310924.2	-	3	550	c.435C>A	c.(433-435)gcC>gcA	p.A145A		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	145						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GAACACTCTGGGCCACCACCA	0.701													13	15					0.00185496	0.00187323	1	0	T	77984303	G	T	77984303	2	4	408	1	0	0	0	0	0	0	0	1	15696	1219	43	4		4	TBC1D16	17	77984303	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	226122	77984303	3210907	3372	81190											
CARD14	79092	broad.mit.edu	37	chr17	78164614	78164614	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctgctgcagttccagaaGagtaagatggcctgccaact	11	8	10	12	0	0	3	0	0	0	3	1	3	1	3	4	1	4	4	4	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:78164614G>A	ENST00000573882.1	+	9	1541	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	CARD14_ENST00000392434.2_Silent_p.K98K|CARD14_ENST00000344227.2_Silent_p.K335K|CARD14_ENST00000570421.1_Silent_p.K335K|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	335					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGTTCCAGAAGAGTAAGATGG	0.587													27	106					0	0	0	0	A	78164614	G	A	78164614	2	1	408	1	0	0	0	0	0	0	0	1	2671	933	33	2		2	CARD14	17	78164614	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	180311	78164614	3030596	3373	81191											
BAHCC1	57597	broad.mit.edu	37	chr17	79426610	79426610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaagtctcgatgtctgtAcccgggcaacgtggtccggg	7	9	14	11	4	3	1	1	0	2	1	5	2	4	1	2	3	2	2	2	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79426610A>G	ENST00000307745.7	+	27	5885	c.5885A>G	c.(5884-5886)tAc>tGc	p.Y1962C																								CGATGTCTGTACCCGGGCAAC	0.657													9	91					0	0	0	0	G	79426610	A	G	79426610	3	3	408	1	0	0	0	0	1	0	0	0	1300	391	14	5	5806	5	BAHCC1	17	79426610	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1261996	79426610	1768600	3374	81192											
HGS	9146	broad.mit.edu	37	chr17	79661856	79661856	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccagaactcgtcggcGcctctggctgaggacatcga	7	8	11	15	4	2	2	0	1	2	1	6	4	2	3	3	3	1	1	3	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79661856G>A	ENST00000329138.4	+	12	1083	c.948G>A	c.(946-948)gcG>gcA	p.A316A		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	316	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACTCGTCGGCGCCTCTGGCTG	0.612													4	117					0	0	0	0	A	79661856	G	A	79661856	2	1	408	1	0	0	0	0	0	0	0	1	7137	1074	38	1		1	HGS	17	79661856	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	235246	79661856	1533354	3375	81193											
PCYT2	5833	broad.mit.edu	37	chr17	79862964	79862964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgatgatccgctggaCgatgaggtctgtggtgaggt	6	12	18	5	2	1	4	0	4	1	0	2	6	2	5	1	5	0	2	1	5	0	1	rs142625466		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79862964C>T	ENST00000538936.2	-	12	1144	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	PCYT2_ENST00000538721.2_Missense_Mutation_p.V364I|PCYT2_ENST00000570388.1_Missense_Mutation_p.V268I|PCYT2_ENST00000570391.1_Missense_Mutation_p.V314I|PCYT2_ENST00000571105.1_Missense_Mutation_p.V324I|PCYT2_ENST00000331285.3_Missense_Mutation_p.V268I	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	346	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATCCGCTGGACGATGAGGTCT	0.632													9	21					0	0	0	0	T	79862964	C	T	79862964	3	4	408	1	0	0	0	0	1	0	0	0	11683	536	19	1	141	1	PCYT2	17	79862964	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	201108	79862964	1332246	3376	81194											
SIRT7	51547	broad.mit.edu	37	chr17	79875959	79875959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcccgcaacctccggaCccgctccgccgctttgcgct	3	8	8	22	6	0	0	0	0	0	0	4	1	4	1	7	1	2	4	7	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79875959C>T	ENST00000328666.6	-	1	111	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	17	Arg-rich.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AACCTCCGGACCCGCTCCGCC	0.776													14	33					0	0	0	0	T	79875959	C	T	79875959	3	4	408	1	0	0	0	0	1	0	0	0	14431	507	18	4	1193	4	SIRT7	17	79875959	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	12995	79875959	1319251	3377	81195											
RAC3	5881	broad.mit.edu	37	chr17	79991386	79991386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccaagctggacctccGcgacgacaaggacaccattg	11	4	12	14	3	0	0	0	0	0	0	1	4	1	2	4	3	1	2	4	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79991386G>T	ENST00000306897.4	+	5	497	c.359G>T	c.(358-360)cGc>cTc	p.R120L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	120					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGACCTCCGCGACGACAAG	0.667													15	43					7.05477e-17	7.41646e-17	1	0	T	79991386	G	T	79991386	3	4	408	1	0	0	0	0	1	0	0	0	13058	1087	38	3	377	3	RAC3	17	79991386	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	115427	79991386	1203824	3378	81196											
FASN	2194	broad.mit.edu	37	chr17	80037120	80037120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcgtgcggtggtcacCctcgatgacgtggacggata	8	7	15	11	5	1	1	1	1	0	0	2	4	1	3	1	4	3	1	1	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:80037120C>T	ENST00000306749.2	-	43	7653	c.7435G>A	c.(7435-7437)Ggt>Agt	p.G2479S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2479	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGGTGGTCACCCTCGATGACG	0.657													8	107					0	0	0	0	T	80037120	C	T	80037120	3	4	408	1	0	0	0	0	1	0	0	0	5728	623	22	4	104	4	FASN	17	80037120	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	45734	80037120	1158090	3379	81197											
CLUL1	27098	broad.mit.edu	37	chr18	645095	645095	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggaacattttaaaacCtggtaagcagagtgcctggt	13	12	10	6	0	0	1	0	0	0	1	0	2	0	2	2	3	4	2	2	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:645095C>A	ENST00000581619.1	+	8	2317	c.1470C>A	c.(1468-1470)acC>acA	p.T490T	CLUL1_ENST00000400606.2_Silent_p.T465T|CLUL1_ENST00000338387.7_Silent_p.T465T|CLUL1_ENST00000540035.1_Silent_p.T517T|CLUL1_ENST00000579494.1_Silent_p.T465T|C18orf56_ENST00000585033.1_Intron			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	465					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ATTTTAAAACCTGGTAAGCAG	0.388													16	63					4.14922e-12	4.31867e-12	1	0	A	645095	C	A	645095	2	1	408	1	0	0	0	0	0	0	0	1	3600	668	24	4		4	CLUL1	18	645095	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08		645095	77432153	3380	81198											
EPB41L3	23136	broad.mit.edu	37	chr18	5423449	5423449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggtgctgggcgatctaTcaacgcactggctcttctcg	7	11	12	11	3	4	0	1	0	3	0	5	1	4	0	0	3	2	4	0	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:5423449T>C	ENST00000341928.2	-	11	1607	c.1267A>G	c.(1267-1269)Ata>Gta	p.I423V	EPB41L3_ENST00000544123.1_Missense_Mutation_p.I423V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.I423V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I423V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.I423V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	423	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			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						GGGCGATCTATCAACGCACTG	0.488													21	54					0	0	0	0	C	5423449	T	C	5423449	3	2	408	1	0	0	0	0	1	0	0	0	5192	1435	50	5	2044	5	EPB41L3	18	5423449	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4778354	5423449	72653799	3381	81199											
LAMA1	284217	broad.mit.edu	37	chr18	7032981	7032981	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggaagagagaagcgtcAcctcacaggaggtccctgtg	12	5	14	10	1	2	2	2	0	0	2	3	6	3	4	2	3	1	0	2	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:7032981A>G	ENST00000389658.3	-	15	2257		c.e15+1			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGAAGCGTCACCTCACAGGA	0.502													7	14					0	0	0	0	G	7032981	A	G	7032981	5	3	408	1	0	0	0	0	0	0	1	0	8658	173	6	5	7258	5	LAMA1	18	7032981	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1609532	7032981	71044267	3382	81200											
ANKRD12	23253	broad.mit.edu	37	chr18	9275635	9275635	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgttttgctggatgcCgaagtatacaatgtaccatt	10	15	9	7	1	0	0	0	0	0	0	0	2	0	1	2	1	5	5	2	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:9275635C>T	ENST00000383440.2	+	10	6065	c.5808C>T	c.(5806-5808)gcC>gcT	p.A1936A	ANKRD12_ENST00000400020.3_Silent_p.A1936A|ANKRD12_ENST00000262126.3_Silent_p.A1959A	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1959						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGCTGGATGCCGAAGTATACA	0.363													35	108					0	0	0	0	T	9275635	C	T	9275635	2	4	408	1	0	0	0	0	0	0	0	1	640	639	23	1		1	ANKRD12	18	9275635	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2242654	9275635	68801613	3383	81201											
AFG3L2	10939	broad.mit.edu	37	chr18	12340360	12340360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttcttttggtaaatacTgagcataacctagtcctttg	10	17	7	7	0	1	1	0	1	1	0	2	1	2	1	2	1	3	3	2	1	5	9			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:12340360T>C	ENST00000269143.3	-	15	2051	c.1820A>G	c.(1819-1821)cAg>cGg	p.Q607R		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	607					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TGGTAAATACTGAGCATAACC	0.403													12	134					0	0	0	0	C	12340360	T	C	12340360	3	2	408	1	0	0	0	0	1	0	0	0	360	1580	55	5	585	5	AFG3L2	18	12340360	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3064725	12340360	65736888	3384	81202											
CEP76	79959	broad.mit.edu	37	chr18	12674619	12674619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgaccatcaggtacaGcccttcttatggcatcttga	9	13	9	10	0	3	2	1	2	2	0	3	2	3	2	2	2	2	2	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:12674619G>A	ENST00000262127.2	-	11	1982	c.1757C>T	c.(1756-1758)gCt>gTt	p.A586V	CEP76_ENST00000423709.2_Missense_Mutation_p.A511V|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	586					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCAGGTACAGCCCTTCTTAT	0.398													33	76					0	0	0	0	A	12674619	G	A	12674619	3	1	408	1	0	0	0	0	1	0	0	0	3290	971	34	4	230	4	CEP76	18	12674619	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	334259	12674619	65402629	3385	81203											
CEP192	55125	broad.mit.edu	37	chr18	13087062	13087062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcaatcttattttggaagGcgttaaaaaattatctgaca	16	13	7	5	1	2	1	0	1	2	0	2	2	2	2	0	2	1	2	0	2	8	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:13087062G>A	ENST00000506447.1	+	31	5743	c.5663G>A	c.(5662-5664)gGc>gAc	p.G1888D	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.G1413D|CEP192_ENST00000325971.8_Missense_Mutation_p.G1292D	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1483										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTTTGGAAGGCGTTAAAAAA	0.348													14	63					0	0	0	0	A	13087062	G	A	13087062	3	1	408	1	0	0	0	0	1	0	0	0	3280	1203	42	4	5781	4	CEP192	18	13087062	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	412443	13087062	64990186	3386	81204											
RNMT	8731	broad.mit.edu	37	chr18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-																															acaatatgaaactagtctacAaaaaaacatttctggaattc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:13746253delA	ENST00000383314.2	+	9	1414	c.1174delA	c.(1174-1176)aafs	p.K393fs	RNMT_ENST00000589866.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000535051.1_Frame_Shift_Del_p.K151fs|RNMT_ENST00000262173.3_Frame_Shift_Del_p.K393fs|RNMT_ENST00000543302.2_Frame_Shift_Del_p.K393fs|RNMT_ENST00000592764.1_Frame_Shift_Del_p.K393fs			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	393					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	p.T394fs*19(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ACTAGTCTACAAAAAAACATT	0.308													22	74	---	---	---	---					-	13746253	A	-	13746253	7	5	408	1	0	1	0	1	0	0	0	0	13591	131	5	0	1200	0	RNMT	18	13746253	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	659191	13746253	64330995	3387	81205											
MC5R	4161	broad.mit.edu	37	chr18	13826297	13826297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcggcattgtcttcaTcctgtactcagaatccacct	7	12	9	13	1	3	1	2	0	1	1	5	1	5	1	3	2	2	3	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:13826297T>C	ENST00000324750.3	+	1	755	c.533T>C	c.(532-534)aTc>aCc	p.I178T		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	178					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATTGTCTTCATCCTGTACTCA	0.562													165	606					0	0	0	0	C	13826297	T	C	13826297	3	2	408	1	0	0	0	0	1	0	0	0	9436	1435	50	5	535	5	MC5R	18	13826297	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	80044	13826297	64250951	3388	81206											
ROCK1	6093	broad.mit.edu	37	chr18	18548731	18548731	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagatcgaaagcatgtatAcctgtgttttaagggttcgt	13	13	10	5	2	0	1	0	0	0	1	2	2	0	1	1	1	2	4	1	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:18548731A>G	ENST00000399799.1	-	25	3944		c.e25+1			NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1						actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AAGCATGTATACCTGTGTTTT	0.358													11	47					0	0	0	0	G	18548731	A	G	18548731	5	3	408	1	0	0	0	0	0	0	1	0	13602	405	14	5	1095	5	ROCK1	18	18548731	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4722434	18548731	59528517	3389	81207											
ROCK1	6093	broad.mit.edu	37	chr18	18608856	18608856	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcatcaaaattactagtAtcaatgtcactacttaaatc	17	13	3	8	0	4	0	4	0	0	0	5	0	4	0	0	0	2	1	0	0	10	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:18608856A>G	ENST00000399799.1	-	10	2032	c.1092T>C	c.(1090-1092)gaT>gaC	p.D364D		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	364	AGC-kinase C-terminal.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AATTACTAGTATCAATGTCAC	0.338													31	100					0	0	0	0	G	18608856	A	G	18608856	2	3	408	1	0	0	0	0	0	0	0	1	13602	446	16	5		5	ROCK1	18	18608856	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	60125	18608856	59468392	3390	81208											
MIB1	57534	broad.mit.edu	37	chr18	19359503	19359503	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacctggtaaatatagaTctcgacctcgaaattgtaca	13	11	9	8	2	1	2	0	1	1	1	3	4	1	2	2	2	1	2	2	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:19359503T>C	ENST00000261537.6	+	6	1029	c.765T>C	c.(763-765)gaT>gaC	p.D255D	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	255					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TAAATATAGATCTCGACCTCG	0.418													4	196					0	0	0	0	C	19359503	T	C	19359503	2	2	408	1	0	0	0	0	0	0	0	1	9635	1432	50	5		5	MIB1	18	19359503	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	750647	19359503	58717745	3391	81209											
MIB1	57534	broad.mit.edu	37	chr18	19423102	19423102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcgttcagggtaatgcaaAcctggatatccagaatgtga	12	11	10	8	1	2	2	1	1	1	1	4	3	3	3	2	2	2	3	2	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:19423102A>G	ENST00000261537.6	+	14	2237	c.1973A>G	c.(1972-1974)aAc>aGc	p.N658S	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	658					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAATGCAAACCTGGATATC	0.353													10	21					0	0	0	0	G	19423102	A	G	19423102	3	3	408	1	0	0	0	0	1	0	0	0	9635	43	2	5	2027	5	MIB1	18	19423102	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	63599	19423102	58654146	3392	81210											
NPC1	4864	broad.mit.edu	37	chr18	21123524	21123524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggtttccccttgaagacGttcatctctcttaaaaaaaa	13	12	6	10	1	3	2	1	1	2	1	5	2	4	2	2	1	0	2	2	1	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:21123524G>A	ENST00000269228.5	-	14	2694	c.2140C>T	c.(2140-2142)Cgt>Tgt	p.R714C	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R396C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	714	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTTGAAGACGTTCATCTCTC	0.398													25	62					0	0	0	0	A	21123524	G	A	21123524	3	1	408	1	0	0	0	0	1	0	0	0	10640	1145	40	1	1744	1	NPC1	18	21123524	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1700422	21123524	56953724	3393	81211											
NPC1	4864	broad.mit.edu	37	chr18	21136222	21136222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttacctggtgcagtatctgTatgtcaagcggaggtccaaa	10	11	12	8	1	2	0	1	0	1	0	3	1	3	1	2	3	3	4	2	3	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:21136222T>C	ENST00000269228.5	-	8	1865	c.1311A>G	c.(1309-1311)atA>atG	p.I437M	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.I187M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	437					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCAGTATCTGTATGTCAAGCG	0.498													24	84					0	0	0	0	C	21136222	T	C	21136222	3	2	408	1	0	0	0	0	1	0	0	0	10640	1628	57	5	2597	5	NPC1	18	21136222	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	12698	21136222	56941026	3394	81212											
TTC39C	125488	broad.mit.edu	37	chr18	21705516	21705517	+	Splice_Site	INS	-	-	A																															tgcagaggatgagtcaaggtINSaaaaaatttaaaaaaaccca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:21705516_21705517insA	ENST00000540918.2	+	5	749		c.e5+2		TTC39C_ENST00000304621.6_Splice_Site|TTC39C_ENST00000317571.3_Splice_Site			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C								binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TGAGTCAAGGTAAAAAATTTAA	0.431													41	110	---	---	---	---					A	21705517	-	A	21705516	8	5	408	1	0	1	1	0	0	0	1	0	16805	1652	57	0	1460	0	TTC39C	18	21705516	Splice_Site	INS	-	TCGA-F7-A624-01A-22D-A30E-08	569294	21705516	56371732	3395	81213											
OSBPL1A	114876	broad.mit.edu	37	chr18	21751417	21751417	+	Frame_Shift_Del	DEL	A	A	-																															actttgtgtaattccttaccAaaaaggccacatggcttaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:21751417delA	ENST00000319481.3	-	23	2453	c.2247delT	c.(2245-2247)ttfs	p.F749fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.F236fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.F367fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	749					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATTCCTTACCAAAAAGGCCAC	0.308													37	106	---	---	---	---					-	21751417	A	-	21751417	7	5	408	1	0	1	0	1	0	0	0	0	11348	127	5	0	629	0	OSBPL1A	18	21751417	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	45901	21751417	56325831	3396	81214											
IMPACT	55364	broad.mit.edu	37	chr18	22020584	22020584	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagtgaaactcggacaggTataatgttactaactaattt	15	13	7	6	1	1	1	1	1	0	0	2	2	1	2	0	2	3	2	0	2	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:22020584T>C	ENST00000284202.4	+	6	631		c.e6+2			NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein											endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTCGGACAGGTATAATGTTAC	0.338													32	102					0	0	0	0	C	22020584	T	C	22020584	5	2	408	1	0	0	0	0	0	0	1	0	7777	1652	57	5	514	5	IMPACT	18	22020584	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	269167	22020584	56056664	3397	81215											
IMPACT	55364	broad.mit.edu	37	chr18	22025367	22025367	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttttaaggtgaaaatggTtctttccaaattgtatgaga	12	17	9	3	0	1	2	0	2	1	1	2	3	2	2	1	2	0	3	1	2	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:22025367T>C	ENST00000284202.4	+	8	746	c.605T>C	c.(604-606)gTt>gCt	p.V202A		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	202										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GTGAAAATGGTTCTTTCCAAA	0.313													17	45					0	0	0	0	C	22025367	T	C	22025367	3	2	408	1	0	0	0	0	1	0	0	0	7777	1725	60	5	635	5	IMPACT	18	22025367	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4783	22025367	56051881	3398	81216											
KCTD1	284252	broad.mit.edu	37	chr18	24035851	24035851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcaaatcctctttgctgCaacctctcgaggacctgcga	9	12	7	13	2	3	0	1	0	2	0	5	3	4	1	3	1	4	2	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:24035851C>T	ENST00000417602.1	-	5	2453	c.2454G>A	c.(2452-2454)ttG>ttA	p.L818L	KCTD1_ENST00000317932.7_Silent_p.L210L|KCTD1_ENST00000408011.3_Silent_p.L210L|KCTD1_ENST00000580059.1_Silent_p.L210L|KCTD1_ENST00000579973.1_Silent_p.L210L	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	210					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	p.L210L(1)|p.L818L(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTCTTTGCTGCAACCTCTCGA	0.547													21	47					0	0	0	0	T	24035851	C	T	24035851	2	4	408	1	0	0	0	0	0	0	0	1	8149	709	25	4		4	KCTD1	18	24035851	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2010484	24035851	54041397	3399	81217											
DSC3	1825	broad.mit.edu	37	chr18	28586928	28586928	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggagaagtattgggcaaActgaaataaaatggagctcc	15	9	11	6	0	1	2	0	1	1	1	2	4	2	3	1	3	2	3	1	3	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28586928A>G	ENST00000434452.1	-	12	1987	c.1833T>C	c.(1831-1833)agT>agC	p.S611S	DSC3_ENST00000360428.4_Silent_p.S611S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	611	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATTGGGCAAACTGAAATAAA	0.343													11	50					0	0	0	0	G	28586928	A	G	28586928	2	3	408	1	0	0	0	0	0	0	0	1	4803	40	2	5		5	DSC3	18	28586928	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4551077	28586928	49490320	3400	81218											
DSC3	1825	broad.mit.edu	37	chr18	28602353	28602353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacgcctgtgctgggatgCacagaaaagagcccaggtga	12	7	13	9	1	0	3	0	1	0	2	0	4	0	4	2	2	4	2	2	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28602353C>T	ENST00000434452.1	-	7	1045	c.891G>A	c.(889-891)gtG>gtA	p.V297V	DSC3_ENST00000360428.4_Silent_p.V297V	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	297	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGCTGGGATGCACAGAAAAGA	0.483													24	79					0	0	0	0	T	28602353	C	T	28602353	2	4	408	1	0	0	0	0	0	0	0	1	4803	697	25	4		4	DSC3	18	28602353	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	15425	28602353	49474895	3401	81219											
DSC2	1824	broad.mit.edu	37	chr18	28673608	28673609	+	Splice_Site	INS	-	-	A																															actggcaaatattaagatctINSaaaaaatgaaaaaaaatcaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28673608_28673609insA	ENST00000280904.6	-	2	513		c.e2-2		DSC2_ENST00000251081.6_Splice_Site	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2						homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATTAAGATCTAAAAAATGAAA	0.262													22	89	---	---	---	---					A	28673609	-	A	28673608	8	5	408	1	0	1	1	0	0	0	1	0	4802	1536	53	0	2737	0	DSC2	18	28673608	Splice_Site	INS	-	TCGA-F7-A624-01A-22D-A30E-08	71255	28673608	49403640	3402	81220											
DSG1	1828	broad.mit.edu	37	chr18	28935124	28935124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatgggtgctgggagcGgtgccctgagtggagctggc	5	7	19	10	1	0	1	0	1	0	0	0	3	0	3	2	5	5	3	2	5	0	0	rs145472309		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28935124G>A	ENST00000257192.4	+	15	3177	c.2965G>A	c.(2965-2967)Ggt>Agt	p.G989S	DSG1_ENST00000462981.2_Missense_Mutation_p.G348S|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	989	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGCTGGGAGCGGTGCCCTGAG	0.597													9	118					0	0	0	0	A	28935124	G	A	28935124	3	1	408	1	0	0	0	0	1	0	0	0	4812	1116	39	1	3023	1	DSG1	18	28935124	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	261516	28935124	49142124	3403	81221											
DSG1	1828	broad.mit.edu	37	chr18	28935292	28935292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcacaaagtatagtaccGtgcaatatagcaagtagtca	17	9	8	7	1	2	0	2	0	0	0	2	1	2	0	1	0	3	5	1	0	10	6	rs140838956		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28935292G>A	ENST00000257192.4	+	15	3345	c.3133G>A	c.(3133-3135)Gtg>Atg	p.V1045M	DSG1_ENST00000462981.2_Missense_Mutation_p.V404M|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1045					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTATAGTACCGTGCAATATAG	0.438													14	36					0	0	0	0	A	28935292	G	A	28935292	3	1	408	1	0	0	0	0	1	0	0	0	4812	1145	40	1	3191	1	DSG1	18	28935292	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	168	28935292	49141956	3404	81222											
DSG4	147409	broad.mit.edu	37	chr18	28991197	28991197	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctcccttttcagaaaTctacaccaacacctatgcag	13	10	3	15	0	2	1	1	0	1	1	4	1	4	1	4	0	3	1	4	0	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28991197T>C	ENST00000359747.4	+	14	2227	c.2198T>C	c.(2197-2199)aTc>aCc	p.I733T	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.I714T|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	714					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTTCAGAAATCTACACCAAC	0.607													8	128					0	0	0	0	C	28991197	T	C	28991197	3	2	408	1	0	0	0	0	1	0	0	0	4815	1435	50	5	2320	5	DSG4	18	28991197	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	55905	28991197	49086051	3405	81223											
NOL4	8715	broad.mit.edu	37	chr18	31803104	31803104	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcggagccattgaggagCtggacgatccgttcgtattt	8	11	13	9	4	0	1	0	1	0	0	3	6	1	4	2	3	2	3	2	3	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:31803104C>T	ENST00000261592.5	-	1	411	c.114G>A	c.(112-114)caG>caA	p.Q38Q	NOL4_ENST00000589544.1_Silent_p.Q38Q|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	38						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CATTGAGGAGCTGGACGATCC	0.577													30	87					0	0	0	0	T	31803104	C	T	31803104	2	4	408	1	0	0	0	0	0	0	0	1	10594	796	28	4		4	NOL4	18	31803104	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2811907	31803104	46274144	3406	81224											
ZNF396	252884	broad.mit.edu	37	chr18	32949530	32949530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactctgggagccattcatAtgaaggatattggaaacatt	14	11	10	6	0	2	1	1	1	1	0	2	5	2	4	1	3	3	0	1	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:32949530A>G	ENST00000306346.1	-	4	788	c.657T>C	c.(655-657)caT>caC	p.H219H	ZNF396_ENST00000589332.1_Silent_p.H219H	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	219					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCCATTCATATGAAGGATAT	0.368													37	101					0	0	0	0	G	32949530	A	G	32949530	2	3	408	1	0	0	0	0	0	0	0	1	17977	446	16	5		5	ZNF396	18	32949530	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1146426	32949530	45127718	3407	81225											
CELF4	56853	broad.mit.edu	37	chr18	34850864	34850864	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctggtgcagtgatgccCggaggggtgctgccacctgg	5	7	18	11	2	0	1	0	1	0	0	0	2	0	2	3	6	4	3	3	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:34850864C>T	ENST00000420428.2	-	8	1361	c.966G>A	c.(964-966)ccG>ccA	p.P322P	CELF4_ENST00000361795.5_Silent_p.P320P|CELF4_ENST00000603232.1_Silent_p.P321P|CELF4_ENST00000334919.5_Silent_p.P312P|CELF4_ENST00000591287.1_Silent_p.P321P|CELF4_ENST00000601019.1_Silent_p.P320P|CELF4_ENST00000591282.1_Silent_p.P322P|CELF4_ENST00000412753.1_Silent_p.P321P|CELF4_ENST00000588597.1_Silent_p.P311P	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	322					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			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						CAGTGATGCCCGGAGGGGTGC	0.622													7	25					0	0	0	0	T	34850864	C	T	34850864	2	4	408	1	0	0	0	0	0	0	0	1	3247	639	23	1		1	CELF4	18	34850864	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1901334	34850864	43226384	3408	81226											
PIK3C3	5289	broad.mit.edu	37	chr18	39617741	39617741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcatggagatgatttacGtcaagatcaacttattcttc	13	14	7	7	1	3	3	2	1	1	2	4	4	3	3	0	1	3	1	0	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:39617741G>A	ENST00000262039.4	+	17	2011	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R127H|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R579H|PIK3C3_ENST00000589056.1_5'UTR|PIK3C3_ENST00000587402.1_5'UTR	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	642	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GATGATTTACGTCAAGATCAA	0.368										TSP Lung(28;0.18)			53	169					0	0	0	0	A	39617741	G	A	39617741	3	1	408	1	0	0	0	0	1	0	0	0	11984	1145	40	1	1991	1	PIK3C3	18	39617741	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4766877	39617741	38459507	3409	81227											
PIK3C3	5289	broad.mit.edu	37	chr18	39647368	39647368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggttcaggataaattccGcttagacctgtcggatgaag	12	11	11	7	2	1	2	1	1	0	1	3	4	2	4	2	3	0	2	2	3	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:39647368G>A	ENST00000262039.4	+	24	2626	c.2540G>A	c.(2539-2541)cGc>cAc	p.R847H	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R332H|PIK3C3_ENST00000587328.1_Missense_Mutation_p.R25H|PIK3C3_ENST00000588156.1_Missense_Mutation_p.R71H|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R784H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	847	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GATAAATTCCGCTTAGACCTG	0.413										TSP Lung(28;0.18)			7	54					0	0	0	0	A	39647368	G	A	39647368	3	1	408	1	0	0	0	0	1	0	0	0	11984	1087	38	1	2634	1	PIK3C3	18	39647368	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	29627	39647368	38429880	3410	81228											
TCEB3C	162699	broad.mit.edu	37	chr18	44555088	44555088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtctttctctgtgcggtAcagctgatcgggcgtccacc	5	13	11	12	3	2	1	0	1	2	0	5	1	3	1	2	2	3	2	2	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:44555088A>G	ENST00000330682.2	-	1	1361	c.1126T>C	c.(1126-1128)Tac>Cac	p.Y376H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	376	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCTGTGCGGTACAGCTGATCG	0.572													40	1427					0	0	0	0	G	44555088	A	G	44555088	3	3	408	1	0	0	0	0	1	0	0	0	15777	391	14	5	2161	5	TCEB3C	18	44555088	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4907720	44555088	33522160	3411	81229											
TCEB3C	162699	broad.mit.edu	37	chr18	44555185	44555185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccggattgttcctaggcacCcggaggcactgctggcgcag	6	8	14	13	3	0	0	0	0	0	0	2	2	2	2	3	5	1	5	3	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:44555185C>T	ENST00000330682.2	-	1	1264	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	343	Activation domain (By similarity).|Interaction with elongin BC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCCTAGGCACCCGGAGGCACT	0.652													25	783					0	0	0	0	T	44555185	C	T	44555185	2	4	408	1	0	0	0	0	0	0	0	1	15777	610	22	4		4	TCEB3C	18	44555185	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	97	44555185	33522063	3412	81230											
TCEB3C	162699	broad.mit.edu	37	chr18	44555282	44555282	+	Frame_Shift_Del	DEL	A	A	-																															cgttcactctgcgtccagggAaagcagcttcctcctggagc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:44555282delA	ENST00000330682.2	-	1	1167	c.932delT	c.(931-933)tcfs	p.F311fs	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	311	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCGTCCAGGGAAAGCAGCTTC	0.642													43	1006	---	---	---	---					-	44555282	A	-	44555282	7	5	408	1	0	1	0	1	0	0	0	0	15777	246	9	0	2355	0	TCEB3C	18	44555282	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	97	44555282	33521966	3413	81231											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567085	45567085	+	Frame_Shift_Del	DEL	C	C	-																															gtcatcctcctcccccccgtCccccccaggctccatgatct																								rs115080210	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:45567085delC	ENST00000588982.1	-	3	895	c.394delG	c.(394-396)acfs	p.D132fs	ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.D132fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcccccccgtcccccCCAGGC	0.582													12	37	---	---	---	---					-	45567085	C	-	45567085	7	5	408	1	0	1	0	1	0	0	0	0	17650	855	30	0	1473	0	ZBTB7C	18	45567085	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	1011803	45567085	32510163	3414	81232											
MYO5B	4645	broad.mit.edu	37	chr18	47429119	47429119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactggatgacaatggctgCatcccgcagccgctggaagt	10	7	12	12	2	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:47429119C>T	ENST00000285039.7	-	21	2955	c.2656G>A	c.(2656-2658)Gca>Aca	p.A886T	MYO5B_ENST00000324581.6_Missense_Mutation_p.A27T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	886	Arg-rich.|IQ 5.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACAATGGCTGCATCCCGCAGC	0.627													22	46					0	0	0	0	T	47429119	C	T	47429119	3	4	408	1	0	0	0	0	1	0	0	0	10149	710	25	4	2970	4	MYO5B	18	47429119	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1862034	47429119	30648129	3415	81233											
CXXC1	30827	broad.mit.edu	37	chr18	47810748	47810748	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctctcaggaatgactcacTtggctgccagcttcatgcca	9	10	8	14	0	3	1	3	1	1	0	4	2	3	2	3	2	3	2	3	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:47810748T>C	ENST00000285106.6	-	9	1919	c.1205_splice	c.e9+1	p.N402_splice	CXXC1_ENST00000412036.2_Splice_Site_p.N406_splice|CXXC1_ENST00000589940.1_Splice_Site_p.N402_splice	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	402					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AATGACTCACTTGGCTGCCAG	0.592													29	98					0	0	0	0	C	47810748	T	C	47810748	5	2	408	1	0	0	0	0	0	0	1	0	4129	1623	56	5	793	5	CXXC1	18	47810748	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	381629	47810748	30266500	3416	81234											
MAPK4	5596	broad.mit.edu	37	chr18	48252422	48252422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacccctacatgagcccatActcgtgccctgaggacgagc	10	6	9	16	2	0	2	0	2	0	0	1	4	0	3	4	1	5	0	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:48252422A>G	ENST00000400384.2	+	5	1980	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	MAPK4_ENST00000540640.1_Missense_Mutation_p.Y104C|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	315					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ATGAGCCCATACTCGTGCCCT	0.577													42	116					0	0	0	0	G	48252422	A	G	48252422	3	3	408	1	0	0	0	0	1	0	0	0	9349	391	14	5	958	5	MAPK4	18	48252422	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	441674	48252422	29824826	3417	81235											
ELAC1	55520	broad.mit.edu	37	chr18	48510840	48510840	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaatttgttgtaaaagcaTttcgcctctttcacagaatt	13	15	5	8	1	2	1	1	0	1	1	3	1	2	1	1	0	2	3	1	0	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:48510840T>C	ENST00000269466.3	+	3	639	c.532T>C	c.(532-534)Ttt>Ctt	p.F178L	ELAC1_ENST00000591429.1_Missense_Mutation_p.F178L|RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	178					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGTAAAAGCATTTCGCCTCTT	0.403													17	58					0	0	0	0	C	48510840	T	C	48510840	3	2	408	1	0	0	0	0	1	0	0	0	5084	1493	52	5	538	5	ELAC1	18	48510840	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	258418	48510840	29566408	3418	81236											
DCC	1630	broad.mit.edu	37	chr18	50918137	50918137	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacaggctgtggctcttacCcatgatgctgtgagggtcag	7	11	14	9	0	2	2	1	2	1	0	2	2	2	2	1	3	3	4	1	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:50918137C>A	ENST00000442544.2	+	17	3184	c.2568C>A	c.(2566-2568)acC>acA	p.T856T	DCC_ENST00000581580.1_Silent_p.T491T|DCC_ENST00000412726.1_Silent_p.T684T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	856	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGCTCTTACCCATGATGCTG	0.527													35	121					3.21399e-22	3.39778e-22	1	0	A	50918137	C	A	50918137	2	1	408	1	0	0	0	0	0	0	0	1	4314	610	22	4		4	DCC	18	50918137	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2407297	50918137	27159111	3419	81237											
ST8SIA3	51046	broad.mit.edu	37	chr18	55024150	55024150	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttttattttaggcaagaAattcttcagcatgtcgatgt	10	18	7	6	1	3	1	1	0	2	1	4	2	3	1	0	1	1	2	0	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:55024150A>G	ENST00000324000.3	+	3	2343	c.309A>G	c.(307-309)gaA>gaG	p.E103E		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	103					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTAGGCAAGAAATTCTTCAGC	0.323													3	27					0	0	0	0	G	55024150	A	G	55024150	2	3	408	1	0	0	0	0	0	0	0	1	15323	11	1	5		5	ST8SIA3	18	55024150	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	4106013	55024150	23053098	3420	81238											
ONECUT2	9480	broad.mit.edu	37	chr18	55103988	55103988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgcatcacagcggagctgaAgcgctacagtatcccccagg	10	5	12	14	3	1	1	1	1	0	0	2	2	2	2	2	2	4	4	2	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:55103988A>G	ENST00000491143.2	+	1	1072	c.1040A>G	c.(1039-1041)aAg>aGg	p.K347R		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	347					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCGGAGCTGAAGCGCTACAGT	0.622													11	35					0	0	0	0	G	55103988	A	G	55103988	3	3	408	1	0	0	0	0	1	0	0	0	10940	72	3	5	1042	5	ONECUT2	18	55103988	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	79838	55103988	22973260	3421	81239											
LMAN1	3998	broad.mit.edu	37	chr18	57026334	57026334	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccttgaagctgtatttgTactcgaaacggcgatgtggc	8	11	12	10	3	0	1	0	1	0	0	1	3	0	1	2	2	3	3	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:57026334T>C	ENST00000251047.5	-	1	860	c.143A>G	c.(142-144)tAc>tGc	p.Y48C		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	48	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GCTGTATTTGTACTCGAAACG	0.692													5	150					0	0	0	0	C	57026334	T	C	57026334	3	2	408	1	0	0	0	0	1	0	0	0	8891	1638	57	5	1441	5	LMAN1	18	57026334	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1922346	57026334	21050914	3422	81240											
ZCCHC2	54877	broad.mit.edu	37	chr18	60241692	60241692	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagttactggcttccccttTacctattccatcaaccttcc	7	15	4	15	0	1	1	1	1	0	0	4	1	4	1	6	1	3	2	6	1	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:60241692T>C	ENST00000269499.5	+	13	2796	c.2378T>C	c.(2377-2379)tTa>tCa	p.L793S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.L472S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	793					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTTCCCCTTTACCTATTCCA	0.488													9	89					0	0	0	0	C	60241692	T	C	60241692	3	2	408	1	0	0	0	0	1	0	0	0	17682	1764	61	5	2428	5	ZCCHC2	18	60241692	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3215358	60241692	17835556	3423	81241											
SERPINB5	5268	broad.mit.edu	37	chr18	61154286	61154286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaaactaatcaagcggctCtacgtagacaaatctctgaa	15	9	7	10	2	3	3	1	2	2	1	4	3	3	3	0	1	3	2	0	1	7	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:61154286C>T	ENST00000382771.4	+	3	568	c.276C>T	c.(274-276)ctC>ctT	p.L92L	SERPINB5_ENST00000489441.1_Silent_p.L92L	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	92					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAAGCGGCTCTACGTAGACA	0.348													16	56					0	0	0	0	T	61154286	C	T	61154286	2	4	408	1	0	0	0	0	0	0	0	1	14191	900	32	2		2	SERPINB5	18	61154286	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	912594	61154286	16922962	3424	81242											
SERPINB8	5271	broad.mit.edu	37	chr18	61654228	61654228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagagttatgacttggagCctttccttcgaagattagga	11	12	12	6	1	0	3	0	1	0	2	2	7	1	5	2	3	1	1	2	3	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:61654228C>T	ENST00000397985.2	+	7	1097	c.841C>T	c.(841-843)Cct>Tct	p.P281S	SERPINB8_ENST00000353706.2_Missense_Mutation_p.P281S|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.P99S	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	281					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGACTTGGAGCCTTTCCTTCG	0.418													29	89					0	0	0	0	T	61654228	C	T	61654228	3	4	408	1	0	0	0	0	1	0	0	0	14194	739	26	4	876	4	SERPINB8	18	61654228	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	499942	61654228	16423020	3425	81243											
SERPINB8	5271	broad.mit.edu	37	chr18	61654293	61654293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagacttttctggaatGtcaactgagaagaatgtgcc	13	10	11	7	0	2	3	1	1	1	3	2	5	2	4	1	2	2	1	1	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:61654293G>A	ENST00000397985.2	+	7	1162	c.906G>A	c.(904-906)atG>atA	p.M302I	SERPINB8_ENST00000353706.2_Missense_Mutation_p.M302I|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.M120I	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	302					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTTCTGGAATGTCAACTGAGA	0.502													16	59					0	0	0	0	A	61654293	G	A	61654293	3	1	408	1	0	0	0	0	1	0	0	0	14194	1377	48	4	941	4	SERPINB8	18	61654293	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	65	61654293	16422955	3426	81244											
DSEL	92126	broad.mit.edu	37	chr18	65180745	65180745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcggtccatctttaggtcgGtgctttctaatttgctgagc	6	16	10	9	2	2	1	0	1	2	0	5	1	3	1	1	3	3	2	1	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:65180745G>A	ENST00000310045.7	-	2	2604	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	367						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTAGGTCGGTGCTTTCTAA	0.438													28	80					0	0	0	0	A	65180745	G	A	65180745	2	1	408	1	0	0	0	0	0	0	0	1	4811	1252	44	4		4	DSEL	18	65180745	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3526452	65180745	12896503	3427	81245											
TMX3	54495	broad.mit.edu	37	chr18	66367677	66367677	+	Frame_Shift_Del	DEL	T	T	-																															gcaaactcaataatatcatcTtttgttcgtggtcctctata																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:66367677delT	ENST00000299608.2	-	6	673	c.357delA	c.(355-357)aafs	p.K119fs	TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Frame_Shift_Del_p.K119fs	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	119	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TAATATCATCTTTTGTTCGTG	0.249													49	132	---	---	---	---					-	66367677	T	-	66367677	7	5	408	1	0	1	0	1	0	0	0	0	16362	1606	56	0	1051	0	TMX3	18	66367677	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	1186932	66367677	11709571	3428	81246											
DOK6	220164	broad.mit.edu	37	chr18	67345062	67345062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggggagcccgaccttctgGccgcaggagtgcagcgggaa	7	6	17	11	3	1	0	0	0	1	0	1	4	1	3	3	5	3	2	3	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67345062G>A	ENST00000382713.5	+	4	572	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	128							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CGACCTTCTGGCCGCAGGAGT	0.527													6	77					0	0	0	0	A	67345062	G	A	67345062	3	1	408	1	0	0	0	0	1	0	0	0	4737	1203	42	4	396	4	DOK6	18	67345062	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	977385	67345062	10732186	3429	81247											
CD226	10666	broad.mit.edu	37	chr18	67562997	67562997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgcgctggcctgcaagtAgcagcggtaaagccccgagt	8	7	13	13	3	0	0	0	0	0	0	1	1	1	0	4	2	5	5	4	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67562997A>G	ENST00000280200.4	-	4	935	c.667T>C	c.(667-669)Tac>Cac	p.Y223H	CD226_ENST00000582621.1_Missense_Mutation_p.Y223H|CD226_ENST00000581982.1_Missense_Mutation_p.Y68H|CD226_ENST00000577287.1_Missense_Mutation_p.Y68H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	223	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GCCTGCAAGTAGCAGCGGTAA	0.527													50	188					0	0	0	0	G	67562997	A	G	67562997	3	3	408	1	0	0	0	0	1	0	0	0	3015	420	15	5	359	5	CD226	18	67562997	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	217935	67562997	10514251	3430	81248											
RTTN	25914	broad.mit.edu	37	chr18	67812917	67812917	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccaatgaataaatcagtAactctggagagaactctggc	14	10	8	9	0	3	2	1	1	2	1	4	4	4	3	1	2	2	1	1	2	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67812917A>G	ENST00000255674.6	-	18	2698	c.2412T>C	c.(2410-2412)gtT>gtC	p.V804V	RTTN_ENST00000437017.1_Silent_p.V804V|RTTN_ENST00000454359.1_Silent_p.V804V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	804							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATAAATCAGTAACTCTGGAGA	0.398													7	109					0	0	0	0	G	67812917	A	G	67812917	2	3	408	1	0	0	0	0	0	0	0	1	13822	349	13	5		5	RTTN	18	67812917	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	249920	67812917	10264331	3431	81249											
SOCS6	9306	broad.mit.edu	37	chr18	67992095	67992096	+	Frame_Shift_Ins	INS	-	-	A																															ggtgaagatgaaaaaggcggINSaaaaaacagatcaaaaagcg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67992095_67992096insA	ENST00000397942.3	+	2	507_508	c.191_192insA	c.(190-192)gaafs	p.E64fs	SOCS6_ENST00000582322.1_Frame_Shift_Ins_p.E64fs	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	64					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAAAAAGGCGGAAAAAACAGAT	0.47													22	157	---	---	---	---					A	67992096	-	A	67992095	7	5	408	1	0	1	1	0	0	0	0	0	15006	1174	41	0	193	0	SOCS6	18	67992095	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	179178	67992095	10085153	3432	81250											
SOCS6	9306	broad.mit.edu	37	chr18	67993103	67993103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagaagggaagctagcaaAcgtgccagatggttcttttc	11	9	13	8	1	1	2	0	0	1	2	2	3	1	3	1	3	4	4	1	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67993103A>G	ENST00000397942.3	+	2	1515	c.1199A>G	c.(1198-1200)aAc>aGc	p.N400S	SOCS6_ENST00000582322.1_Missense_Mutation_p.N400S	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	400	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AAGCTAGCAAACGTGCCAGAT	0.468													5	100					0	0	0	0	G	67993103	A	G	67993103	3	3	408	1	0	0	0	0	1	0	0	0	15006	43	2	5	1201	5	SOCS6	18	67993103	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1008	67993103	10084145	3433	81251											
CNDP2	55748	broad.mit.edu	37	chr18	72185802	72185802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagttcaaggtgtacatgggCcacggtgggaagccctgggt	8	8	17	8	1	1	0	1	0	0	0	1	2	1	1	2	5	2	2	2	5	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:72185802C>T	ENST00000324262.4	+	10	1453	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G	CNDP2_ENST00000579847.1_Silent_p.G379G|CNDP2_ENST00000324301.8_Silent_p.G295G	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	379						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGTACATGGGCCACGGTGGGA	0.502													31	104					0	0	0	0	T	72185802	C	T	72185802	2	4	408	1	0	0	0	0	0	0	0	1	3624	726	26	4		4	CNDP2	18	72185802	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4192699	72185802	5891446	3434	81252											
CNDP1	84735	broad.mit.edu	37	chr18	72238438	72238438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaaatgcagagaccaGgattttcactcaggaacctt	13	9	10	9	0	2	2	2	1	0	1	2	5	2	4	2	3	2	1	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:72238438G>T	ENST00000582365.1	+	6	711	c.645G>T	c.(643-645)caG>caT	p.Q215H	CNDP1_ENST00000358821.3_Missense_Mutation_p.Q258H			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	258					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCAGAGACCAGGATTTTCACT	0.403													22	84					2.41591e-17	2.54096e-17	1	0	T	72238438	G	T	72238438	3	4	408	1	0	0	0	0	1	0	0	0	3623	991	35	4	800	4	CNDP1	18	72238438	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	52636	72238438	5838810	3435	81253											
TSHZ1	10194	broad.mit.edu	37	chr18	72997953	72997953	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcagcagctccgggtaCgactggcaccaggctgcact	9	5	12	15	2	0	0	0	0	0	0	1	1	1	0	3	3	5	7	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:72997953C>T	ENST00000322038.5	+	2	1040	c.456C>T	c.(454-456)taC>taT	p.Y152Y	TSHZ1_ENST00000580243.1_Silent_p.Y197Y	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	197	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		gctccggGTACGACTGGCACC	0.662													6	17					0	0	0	0	T	72997953	C	T	72997953	2	4	408	1	0	0	0	0	0	0	0	1	16718	547	19	1		1	TSHZ1	18	72997953	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	759515	72997953	5079295	3436	81254											
TSHZ1	10194	broad.mit.edu	37	chr18	72999677	72999677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcgctggacccgctggCgatgctgtacaagatcagca	8	8	11	14	3	1	1	1	0	0	1	3	3	2	2	2	2	3	5	2	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:72999677C>T	ENST00000322038.5	+	2	2764	c.2180C>T	c.(2179-2181)gCg>gTg	p.A727V	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A772V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	772						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GACCCGCTGGCGATGCTGTAC	0.587													5	41					0	0	0	0	T	72999677	C	T	72999677	3	4	408	1	0	0	0	0	1	0	0	0	16718	768	27	1	2182	1	TSHZ1	18	72999677	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1724	72999677	5077571	3437	81255											
ZNF516	9658	broad.mit.edu	37	chr18	74091854	74091854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggggtcatcccgcgtcGacctcgcacttaaatctagc	7	10	10	14	4	2	0	1	0	1	0	5	1	3	0	2	2	2	2	2	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:74091854G>A	ENST00000443185.2	-	4	2533	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATCCCGCGTCGACCTCGCACT	0.597													8	42					0	0	0	0	A	74091854	G	A	74091854	3	1	408	1	0	0	0	0	1	0	0	0	18055	1059	37	1	1292	1	ZNF516	18	74091854	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1092177	74091854	3985394	3438	81256											
ZNF236	7776	broad.mit.edu	37	chr18	74620313	74620313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctccaacagcatcagcagGcagcctcgatagatgacagc	13	5	10	13	1	1	2	1	1	0	1	3	3	2	2	2	1	6	4	2	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:74620313G>A	ENST00000253159.8	+	14	2527	c.2329G>A	c.(2329-2331)Gca>Aca	p.A777T	ZNF236_ENST00000320610.9_Missense_Mutation_p.A779T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	777					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCATCAGCAGGCAGCCTCGAT	0.517													38	144					0	0	0	0	A	74620313	G	A	74620313	3	1	408	1	0	0	0	0	1	0	0	0	17884	1203	42	4	2383	4	ZNF236	18	74620313	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	528459	74620313	3456935	3439	81257											
MBP	4155	broad.mit.edu	37	chr18	74728931	74728931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccaggtacttggatcCgtgcctctgggagggtctct	4	12	15	10	1	2	0	0	0	2	0	4	2	3	2	3	5	2	1	3	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:74728931C>T	ENST00000397860.3	-	4	647	c.433G>A	c.(433-435)Gga>Aga	p.G145R	MBP_ENST00000580402.1_Missense_Mutation_p.G145R|MBP_ENST00000579129.1_Missense_Mutation_p.G145R|MBP_ENST00000397863.1_Missense_Mutation_p.G145R|MBP_ENST00000397866.4_Missense_Mutation_p.G12R|MBP_ENST00000397869.3_Missense_Mutation_p.G12R|MBP_ENST00000526111.1_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.G12R|MBP_ENST00000397875.3_Missense_Mutation_p.G12R|MBP_ENST00000354542.4_Missense_Mutation_p.G12R|MBP_ENST00000397865.5_Missense_Mutation_p.G12R|MBP_ENST00000355994.2_Missense_Mutation_p.G145R|MBP_ENST00000382582.3_Missense_Mutation_p.G12R|MBP_ENST00000528160.1_Missense_Mutation_p.G12R|MBP_ENST00000359645.3_Missense_Mutation_p.G12R|MBP_ENST00000527041.1_Missense_Mutation_p.G12R	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	145					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			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)		TACTTGGATCCGTGCCTCTGG	0.597													37	67					0	0	0	0	T	74728931	C	T	74728931	3	4	408	1	0	0	0	0	1	0	0	0	9428	661	23	1	605	1	MBP	18	74728931	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	108618	74728931	3348317	3440	81258											
HCN2	610	broad.mit.edu	37	chr19	615973	615973	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccgccgccgccgcaggtCacctcggccatcgccacgct	4	4	11	22	8	1	0	1	0	0	0	3	0	1	0	8	2	0	2	8	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:615973C>T	ENST00000251287.2	+	8	2222	c.2169C>T	c.(2167-2169)gtC>gtT	p.V723V	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	723	Pro-rich.				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		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)		cgccgcAGGTCACCTCGGCCA	0.751													9	11					0	0	0	0	T	615973	C	T	615973	2	4	408	1	0	0	0	0	0	0	0	1	7047	813	29	2		2	HCN2	19	615973	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08		615973	58513010	3441	81259											
POLRMT	5442	broad.mit.edu	37	chr19	619641	619641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatctgcaggcgcccgccaTagcgcgtgaccccgtacacc	8	5	10	18	5	1	1	0	1	1	0	1	1	1	1	5	1	3	2	5	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:619641T>C	ENST00000588649.2	-	13	3095	c.3011A>G	c.(3010-3012)tAt>tGt	p.Y1004C		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1004	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		GCGCCCGCCATAGCGCGTGAC	0.647													66	163					0	0	0	0	C	619641	T	C	619641	3	2	408	1	0	0	0	0	1	0	0	0	12310	1406	49	5	717	5	POLRMT	19	619641	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3668	619641	58509342	3442	81260											
MED16	10025	broad.mit.edu	37	chr19	868422	868422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagcccaccgcacaggcagTtcttgatccagcgctgctcc	8	7	10	16	2	1	2	0	1	1	1	3	2	3	2	4	1	3	5	4	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:868422T>C	ENST00000312090.6	-	16	2684	c.2534A>G	c.(2533-2535)aAc>aGc	p.N845S	MED16_ENST00000325464.1_Missense_Mutation_p.N826S|MED16_ENST00000395808.3_Missense_Mutation_p.N826S|MED16_ENST00000589119.1_Missense_Mutation_p.N826S|MED16_ENST00000269814.4_3'UTR			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	826					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGGCAGTTCTTGATCCA	0.667													5	27					0	0	0	0	C	868422	T	C	868422	3	2	408	1	0	0	0	0	1	0	0	0	9503	1725	60	5	164	5	MED16	19	868422	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	248781	868422	58260561	3443	81261											
GRIN3B	116444	broad.mit.edu	37	chr19	1004694	1004694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctggacttggaaccGggaggtgcctctgcacggcc	6	6	16	13	2	1	0	0	0	1	0	1	3	1	3	4	6	4	2	4	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1004694G>A	ENST00000234389.3	+	3	1213	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	GRIN3B_ENST00000588335.1_Intron	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	398					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACTTGGAACCGGGAGGTGCCT	0.697													4	26					0	0	0	0	A	1004694	G	A	1004694	2	1	408	1	0	0	0	0	0	0	0	1	6834	1103	39	1		1	GRIN3B	19	1004694	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	136272	1004694	58124289	3444	81262											
ABCA7	10347	broad.mit.edu	37	chr19	1045192	1045192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcaaaatccgcatggaCattgacgtggtcacgaggac	12	7	11	11	4	2	1	2	1	0	0	3	4	3	3	1	3	0	2	1	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1045192C>T	ENST00000263094.6	+	12	1638	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	ABCA7_ENST00000433129.1_Silent_p.D469D|ABCA7_ENST00000435683.2_Silent_p.D331D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	469					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCATGGACATTGACGTGG	0.652													23	96					0	0	0	0	T	1045192	C	T	1045192	2	4	408	1	0	0	0	0	0	0	0	1	37	477	17	4		4	ABCA7	19	1045192	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	40498	1045192	58083791	3445	81263											
HMHA1	23526	broad.mit.edu	37	chr19	1080085	1080085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagcccgatgtgcactaCgactttgagccccacgtctc	8	8	10	15	3	1	1	0	1	1	0	2	4	1	2	3	1	4	1	3	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1080085C>T	ENST00000313093.2	+	13	1902	c.1671C>T	c.(1669-1671)taC>taT	p.Y557Y	HMHA1_ENST00000590214.1_Silent_p.Y584Y|HMHA1_ENST00000590577.1_Silent_p.Y192Y|HMHA1_ENST00000539243.2_Silent_p.Y573Y|HMHA1_ENST00000536472.1_Silent_p.Y397Y|HMHA1_ENST00000543365.1_Silent_p.Y440Y|HMHA1_ENST00000586866.1_Silent_p.Y561Y	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	557					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		ATGTGCACTACGACTTTGAGC	0.672													29	75					0	0	0	0	T	1080085	C	T	1080085	2	4	408	1	0	0	0	0	0	0	0	1	7290	547	19	1		1	HMHA1	19	1080085	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	34893	1080085	58048898	3446	81264											
SBNO2	22904	broad.mit.edu	37	chr19	1108811	1108811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtccttggtcttcagccGcacgatctgcaggtagctgc	5	11	11	14	2	3	0	1	0	2	0	4	1	4	0	3	2	4	4	3	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1108811G>A	ENST00000361757.3	-	31	3820	c.3583C>T	c.(3583-3585)Cgg>Tgg	p.R1195W	SBNO2_ENST00000438103.2_Missense_Mutation_p.R1138W|SBNO2_ENST00000587024.1_Missense_Mutation_p.R1185W	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1195					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GTCTTCAGCCGCACGATCTGC	0.716													9	20					0	0	0	0	A	1108811	G	A	1108811	3	1	408	1	0	0	0	0	1	0	0	0	13949	1086	38	1	525	1	SBNO2	19	1108811	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	28726	1108811	58020172	3447	81265											
MIDN	90007	broad.mit.edu	37	chr19	1254932	1254932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccacggccagcagcaGtgccagtcctggtgccagca	7	5	11	18	1	0	0	0	0	0	0	2	0	2	0	6	2	5	3	6	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1254932G>A	ENST00000300952.2	+	6	1243	c.728G>A	c.(727-729)aGt>aAt	p.S243N	MIDN_ENST00000591446.2_Missense_Mutation_p.S243N	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	243						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCCAGCAGCAGTGCCAGTCCT	0.667													36	133					0	0	0	0	A	1254932	G	A	1254932	3	1	408	1	0	0	0	0	1	0	0	0	9648	1029	36	4	746	4	MIDN	19	1254932	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	146121	1254932	57874051	3448	81266											
EFNA2	1943	broad.mit.edu	37	chr19	1299893	1299893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtagcagcccgggcggctgCcgcctcttcctcagcaccat	5	8	11	17	3	2	0	1	0	1	0	3	0	3	0	5	2	4	4	5	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1299893C>T	ENST00000215368.2	+	4	606	c.591C>T	c.(589-591)tgC>tgT	p.C197C	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	197					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGGGCGGCTGCCGCCTCTTCC	0.682													4	14					0	0	0	0	T	1299893	C	T	1299893	2	4	408	1	0	0	0	0	0	0	0	1	4987	747	26	4		4	EFNA2	19	1299893	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	44961	1299893	57829090	3449	81267											
MBD3	53615	broad.mit.edu	37	chr19	1581142	1581142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcacaggggctgcgtggtgTtgagccatacgccggggttc	5	9	17	10	3	0	1	0	1	0	0	1	1	0	1	2	5	4	4	2	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1581142T>C	ENST00000590550.2	-	4	831	c.458A>G	c.(457-459)aAc>aGc	p.N153S	MBD3_ENST00000434436.3_Missense_Mutation_p.N209S|MBD3_ENST00000592012.1_Missense_Mutation_p.N177S|MBD3_ENST00000156825.1_Missense_Mutation_p.N209S			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	209					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGTGGTGTTGAGCCATAC	0.652													5	68					0	0	0	0	C	1581142	T	C	1581142	3	2	408	1	0	0	0	0	1	0	0	0	9413	1725	60	5	257	5	MBD3	19	1581142	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	281249	1581142	57547841	3450	81268											
MBD3	53615	broad.mit.edu	37	chr19	1585075	1585075	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctggttggaggagtcGtagcgcacgcgctggcggct	5	9	17	10	5	0	1	0	1	0	0	1	3	0	3	1	5	1	5	1	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1585075G>A	ENST00000590550.2	-	1	454	c.81C>T	c.(79-81)taC>taT	p.Y27Y	MBD3_ENST00000434436.3_Silent_p.Y83Y|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Silent_p.Y51Y|MBD3_ENST00000156825.1_Silent_p.Y83Y			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	83	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGAGTCGTAGCGCACGC	0.662													16	40					0	0	0	0	A	1585075	G	A	1585075	2	1	408	1	0	0	0	0	0	0	0	1	9413	1140	40	1		1	MBD3	19	1585075	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3933	1585075	57543908	3451	81269											
ATP8B3	148229	broad.mit.edu	37	chr19	1802636	1802636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttaggcgcctcacacgTcactgtgcctgtgggtggcc	5	10	13	13	2	2	0	2	0	0	0	2	0	2	0	3	3	1	1	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1802636T>C	ENST00000539485.1	-	11	1146	c.913A>G	c.(913-915)Acg>Gcg	p.T305A	ATP8B3_ENST00000310127.6_Missense_Mutation_p.T305A|ATP8B3_ENST00000525591.1_Missense_Mutation_p.T252A|ATP8B3_ENST00000526092.1_Missense_Mutation_p.T252A			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	305					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCACACGTCACTGTGCCT	0.617													6	26					0	0	0	0	C	1802636	T	C	1802636	3	2	408	1	0	0	0	0	1	0	0	0	1200	1667	58	5	3113	5	ATP8B3	19	1802636	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	217561	1802636	57326347	3452	81270											
BTBD2	55643	broad.mit.edu	37	chr19	1986864	1986864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccgtgtagttgacgttggGcagcacctccaccggctcct	5	9	13	14	3	0	1	0	1	0	0	2	1	2	1	5	3	1	6	5	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1986864G>A	ENST00000255608.4	-	8	1397	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	461						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		TTGACGTTGGGCAGCACCTCC	0.662													32	70					0	0	0	0	A	1986864	G	A	1986864	3	1	408	1	0	0	0	0	1	0	0	0	1552	1203	42	4	204	4	BTBD2	19	1986864	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	184228	1986864	57142119	3453	81271											
MKNK2	2872	broad.mit.edu	37	chr19	2043156	2043156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaacaccaggtagaagcGgtcctcctcctcgaagaact	12	7	8	14	2	1	2	1	0	0	2	5	3	4	2	4	2	3	1	4	2	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2043156G>A	ENST00000250896.3	-	7	704	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	MKNK2_ENST00000591601.1_Missense_Mutation_p.R154C|MKNK2_ENST00000541165.1_Missense_Mutation_p.R23C|MKNK2_ENST00000309340.7_Missense_Mutation_p.R154C	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	154	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		AGGTAGAAGCGGTCCTCCTCC	0.632													72	205					0	0	0	0	A	2043156	G	A	2043156	3	1	408	1	0	0	0	0	1	0	0	0	9674	1116	39	1	1064	1	MKNK2	19	2043156	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	56292	2043156	57085827	3454	81272											
OAZ1	4946	broad.mit.edu	37	chr19	2273081	2273081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcctacacgttcgagagaGagtcttcgggagaggaggag	10	7	17	7	3	1	3	0	0	1	3	3	8	1	5	1	4	1	1	1	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2273081G>A	ENST00000583542.3	+	6	764	c.685G>A	c.(685-687)Gag>Aag	p.E229K	OAZ1_ENST00000582888.3_Missense_Mutation_p.E219K|OAZ1_ENST00000592727.1_3'UTR|OAZ1_ENST00000602676.1_Missense_Mutation_p.E221K|OAZ1_ENST00000322297.4_Missense_Mutation_p.E220K			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	221					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	GTTCGAGAGAGAGTCTTCGGG	0.632													5	19					0	0	0	0	A	2273081	G	A	2273081	3	1	408	1	0	0	0	0	1	0	0	0	10875	943	33	2	680	2	OAZ1	19	2273081	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	229925	2273081	56855902	3455	81273											
LMNB2	84823	broad.mit.edu	37	chr19	2435009	2435009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggccacaccttggcctggTaggtctgctccagctccagc	5	8	11	17	1	1	0	0	0	1	0	3	0	3	0	6	4	3	3	6	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2435009T>C	ENST00000325327.3	-	5	907	c.845A>G	c.(844-846)tAc>tGc	p.Y282C	LMNB2_ENST00000582871.1_Missense_Mutation_p.Y262C			Q03252	LMNB2_HUMAN	lamin B2	262	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CTTGGCCTGGTAGGTCTGCTC	0.716													18	51					0	0	0	0	C	2435009	T	C	2435009	3	2	408	1	0	0	0	0	1	0	0	0	8905	1638	57	5	1049	5	LMNB2	19	2435009	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	161928	2435009	56693974	3456	81274											
LMNB2	84823	broad.mit.edu	37	chr19	2438423	2438423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactctccaggccgcgctTgtcgctgagggcagctgcca	5	8	13	15	3	2	1	1	1	1	0	4	1	2	1	3	2	2	4	3	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2438423T>C	ENST00000325327.3	-	3	570	c.508A>G	c.(508-510)Aag>Gag	p.K170E	LMNB2_ENST00000582871.1_Missense_Mutation_p.K150E			Q03252	LMNB2_HUMAN	lamin B2	150	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		AGGCCGCGCTTGTCGCTGAGG	0.672													16	27					0	0	0	0	C	2438423	T	C	2438423	3	2	408	1	0	0	0	0	1	0	0	0	8905	1821	63	5	1394	5	LMNB2	19	2438423	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3414	2438423	56690560	3457	81275											
SLC39A3	29985	broad.mit.edu	37	chr19	2732884	2732884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaagaggaaggtgccGcccgccaggccctgcagcag	9	4	16	12	2	0	3	0	2	0	1	0	4	0	4	4	3	3	2	4	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2732884G>A	ENST00000269740.4	-	3	1139	c.810C>T	c.(808-810)ggC>ggT	p.G270G	SLC39A3_ENST00000545664.1_Silent_p.G270G|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	270						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		GGAAGGTGCCGCCCGCCAGGC	0.672													22	81					0	0	0	0	A	2732884	G	A	2732884	2	1	408	1	0	0	0	0	0	0	0	1	14707	1074	38	1		1	SLC39A3	19	2732884	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	294461	2732884	56396099	3458	81276											
SLC39A3	29985	broad.mit.edu	37	chr19	2737027	2737027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaagggctgctgctaGtgcccagggagcccttacct	6	8	14	13	0	0	0	0	0	0	0	0	1	0	1	4	3	6	3	4	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2737027G>A	ENST00000455372.2	-	2	434	c.229C>T	c.(229-231)Cta>Tta	p.L77L	SLC39A3_ENST00000545664.1_Intron|SLC39A3_ENST00000269740.4_Intron|AC006538.4_ENST00000586572.1_Intron	NM_213568.1	NP_998733.1	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	0						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		GCTGCTGCTAGTGCCCAGGGA	0.557													15	27					0	0	0	0	A	2737027	G	A	2737027	2	1	408	1	0	0	0	0	0	0	0	1	14707	1020	36	4		4	SLC39A3	19	2737027	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4143	2737027	56391956	3459	81277											
SGTA	6449	broad.mit.edu	37	chr19	2763675	2763675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgccgtaggccttgctgTaggccgggtcaatgcagatg	6	10	14	11	2	1	1	1	0	0	1	2	1	2	1	4	3	3	4	4	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2763675T>C	ENST00000221566.2	-	6	634	c.473A>G	c.(472-474)tAc>tGc	p.Y158C		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	158					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		GGCCTTGCTGTAGGCCGGGTC	0.642													11	23					0	0	0	0	C	2763675	T	C	2763675	3	2	408	1	0	0	0	0	1	0	0	0	14312	1638	57	5	492	5	SGTA	19	2763675	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	26648	2763675	56365308	3460	81278											
ZNF57	126295	broad.mit.edu	37	chr19	2917426	2917426	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccctcgacatttcaaagAcacatgacaacacacactgg	15	8	5	13	1	1	2	1	1	0	1	3	3	2	2	1	1	1	0	1	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2917426A>G	ENST00000306908.5	+	4	955	c.807A>G	c.(805-807)agA>agG	p.R269R	ZNF57_ENST00000523428.1_Silent_p.R237R|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTCAAAGACACATGACAA	0.453													7	107					0	0	0	0	G	2917426	A	G	2917426	2	3	408	1	0	0	0	0	0	0	0	1	18096	272	10	5		5	ZNF57	19	2917426	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	153751	2917426	56211557	3461	81279											
GNA11	2767	broad.mit.edu	37	chr19	3118981	3118981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggatccactgctttgagaAcgtgacatccatcatgtttc	9	13	9	10	1	1	2	1	2	0	1	4	4	3	3	2	1	2	2	2	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3118981A>G	ENST00000078429.4	+	5	907	c.665A>G	c.(664-666)aAc>aGc	p.N222S	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	222					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCTTTGAGAACGTGACATCC	0.627			Mis		uveal melanoma								5	159					0	0	0	0	G	3118981	A	G	3118981	3	3	408	1	0	0	0	0	1	0	0	0	6550	43	2	5	683	5	GNA11	19	3118981	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	201555	3118981	56010002	3462	81280											
GNA11	2767	broad.mit.edu	37	chr19	3119235	3119235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcaaagccctgttccGgaccatcatcacctacccct	10	7	8	16	1	2	1	2	0	0	1	3	3	3	2	6	2	3	2	6	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3119235G>A	ENST00000078429.4	+	6	1009	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	256					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCTGTTCCGGACCATCATC	0.607			Mis		uveal melanoma								58	151					0	0	0	0	A	3119235	G	A	3119235	3	1	408	1	0	0	0	0	1	0	0	0	6550	1116	39	1	789	1	GNA11	19	3119235	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	254	3119235	56009748	3463	81281											
PIP5K1C	23396	broad.mit.edu	37	chr19	3641708	3641708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggccgtgctcaccctgcGtcctcctctttggggaccac	4	9	11	17	3	2	0	1	0	1	0	4	2	4	1	5	3	2	1	5	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3641708G>A	ENST00000335312.3	-	15	1870	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	PIP5K1C_ENST00000537021.1_Silent_p.D594D|PIP5K1C_ENST00000589578.1_Silent_p.D594D|PIP5K1C_ENST00000539785.1_Silent_p.D594D	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	594					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCACCCTGCGTCCTCCTCTT	0.652													16	49					0	0	0	0	A	3641708	G	A	3641708	2	1	408	1	0	0	0	0	0	0	0	1	12013	1136	40	1		1	PIP5K1C	19	3641708	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	522473	3641708	55487275	3464	81282											
EEF2	1938	broad.mit.edu	37	chr19	3980975	3980975	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccagcggcgcatcacAgcctgcgggggcagagagcg	8	2	18	13	4	1	1	1	0	0	1	1	2	1	1	2	4	5	3	2	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3980975A>G	ENST00000309311.6	-	8	1102	c.1014T>C	c.(1012-1014)gcT>gcC	p.A338A		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	338						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCATCACAGCCTGCGGGG	0.647													3	8					0	0	0	0	G	3980975	A	G	3980975	2	3	408	1	0	0	0	0	0	0	0	1	4965	175	7	5		5	EEF2	19	3980975	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	339267	3980975	55148008	3465	81283											
PIAS4	51588	broad.mit.edu	37	chr19	4033130	4033130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgccttgatcctgacagcGagatcgccaccaccggtgtg	7	8	12	14	4	0	3	0	2	0	1	2	4	1	3	5	1	2	0	5	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4033130G>A	ENST00000262971.2	+	8	1055	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	314					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGACAGCGAGATCGCCAC	0.682													29	96					0	0	0	0	A	4033130	G	A	4033130	3	1	408	1	0	0	0	0	1	0	0	0	11950	1059	37	1	970	1	PIAS4	19	4033130	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	52155	4033130	55095853	3466	81284											
CREB3L3	84699	broad.mit.edu	37	chr19	4171733	4171733	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgaggccccaggacccCgacccgaggctgacacaacc	9	2	11	19	3	0	1	0	1	0	0	1	5	1	2	7	3	1	2	7	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4171733C>T	ENST00000078445.2	+	10	1300	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	CREB3L3_ENST00000252587.3_Silent_p.P273P|CREB3L3_ENST00000602257.1_Nonsense_Mutation_p.R383*|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Nonsense_Mutation_p.R384*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	385					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACCCCGACCCGAGGC	0.642													49	157					0	0	0	0	T	4171733	C	T	4171733	4	4	408	1	0	0	0	0	0	1	0	0	3888	644	23	1	1191	1	CREB3L3	19	4171733	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	138603	4171733	54957250	3467	81285											
DPP9	91039	broad.mit.edu	37	chr19	4682811	4682811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagtgtaccctgtgtcgtAggccatccagacggtgaccg	7	9	12	13	3	1	2	1	1	0	1	3	2	2	2	4	2	1	2	4	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4682811A>G	ENST00000262960.9	-	20	2648	c.2371T>C	c.(2371-2373)Tac>Cac	p.Y791H	DPP9_ENST00000594671.1_Missense_Mutation_p.Y762H|DPP9_ENST00000598800.1_Missense_Mutation_p.Y762H|AC005594.3_ENST00000381796.1_RNA	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	762					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCTGTGTCGTAGGCCATCCAG	0.627													4	7					0	0	0	0	G	4682811	A	G	4682811	3	3	408	1	0	0	0	0	1	0	0	0	4769	420	15	5	319	5	DPP9	19	4682811	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	511078	4682811	54446172	3468	81286											
DPP9	91039	broad.mit.edu	37	chr19	4683620	4683620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcaggccctccacctGgtcctcgatctccacctggc	6	8	9	18	1	1	0	0	0	1	0	5	2	3	0	6	3	2	1	6	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4683620G>T	ENST00000262960.9	-	19	2477	c.2200C>A	c.(2200-2202)Cag>Aag	p.Q734K	DPP9_ENST00000594671.1_Missense_Mutation_p.Q705K|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000598800.1_Missense_Mutation_p.Q705K|AC005594.3_ENST00000381796.1_RNA	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	705					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCCTCCACCTGGTCCTCGATC	0.627													4	110					0.150653	0.150988	1	0	T	4683620	G	T	4683620	3	4	408	1	0	0	0	0	1	0	0	0	4769	1357	47	4	494	4	DPP9	19	4683620	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	809	4683620	54445363	3469	81287											
UHRF1	29128	broad.mit.edu	37	chr19	4944201	4944202	+	RNA	DEL	GA	GA	-																															gtactggcgggagagcggctGagagagagcaagaagaaggc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4944201_4944202delGA	ENST00000592666.1	+	0	1707_1708							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGAGCGGCTGAGAGAGAGCAA	0.653													8	28	---	---	---	---					-	4944202	GA	-	4944201	6	5	408	0	1	1	0	1	0	0	0	0	17063	1277	45	0		0	UHRF1	19	4944201	RNA	DEL	GA	TCGA-F7-A624-01A-22D-A30E-08	260581	4944201	54184782	3470	81288											
KDM4B	23030	broad.mit.edu	37	chr19	5039883	5039883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggaagccgcggcagacgTatgatgacatcgacgacgtg	11	6	15	9	6	0	3	0	2	0	1	1	6	0	4	1	2	1	2	1	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5039883T>C	ENST00000159111.4	+	4	396	c.178T>C	c.(178-180)Tat>Cat	p.Y60H	KDM4B_ENST00000536461.1_Missense_Mutation_p.Y60H|KDM4B_ENST00000381759.4_Missense_Mutation_p.Y60H	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	60					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCGGCAGACGTATGATGACAT	0.612													22	121					0	0	0	0	C	5039883	T	C	5039883	3	2	408	1	0	0	0	0	1	0	0	0	8182	1638	57	5	184	5	KDM4B	19	5039883	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	95682	5039883	54089100	3471	81289											
KDM4B	23030	broad.mit.edu	37	chr19	5047569	5047569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaccatcatcgagggcgTgaacacgccctacctgtact	9	7	10	15	4	1	1	1	1	0	0	2	2	1	1	3	2	3	2	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5047569T>C	ENST00000159111.4	+	6	733	c.515T>C	c.(514-516)gTg>gCg	p.V172A	KDM4B_ENST00000536461.1_Missense_Mutation_p.V172A|KDM4B_ENST00000381759.4_Missense_Mutation_p.V172A|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	172	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCGAGGGCGTGAACACGCCC	0.622													46	117					0	0	0	0	C	5047569	T	C	5047569	3	2	408	1	0	0	0	0	1	0	0	0	8182	1696	59	5	529	5	KDM4B	19	5047569	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7686	5047569	54081414	3472	81290											
PTPRS	5802	broad.mit.edu	37	chr19	5208367	5208367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgttccggccagtctgtGaactggaactgccggacagt	7	9	12	13	2	1	1	0	1	1	0	2	3	2	3	4	3	3	1	4	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5208367G>A	ENST00000372412.4	-	36	5759	c.5526C>T	c.(5524-5526)ttC>ttT	p.F1842F	PTPRS_ENST00000262963.6_Silent_p.F1821F|PTPRS_ENST00000348075.2_Silent_p.F1803F|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.F1803F|PTPRS_ENST00000357368.4_Silent_p.F1841F|PTPRS_ENST00000592099.1_Silent_p.F1394F|PTPRS_ENST00000353284.2_Silent_p.F1394F|PTPRS_ENST00000587303.1_Silent_p.F1841F			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1841	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCAGTCTGTGAACTGGAACT	0.577													6	28					0	0	0	0	A	5208367	G	A	5208367	2	1	408	1	0	0	0	0	0	0	0	1	12893	1281	45	2		2	PTPRS	19	5208367	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	160798	5208367	53920616	3473	81291											
PTPRS	5802	broad.mit.edu	37	chr19	5219973	5219973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcttctgaagcacggCaagcacgaagaggacatagc	12	6	11	12	3	2	2	0	1	2	1	3	4	2	3	0	2	3	4	0	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5219973C>A	ENST00000372412.4	-	22	3978	c.3745G>T	c.(3745-3747)Gcc>Tcc	p.A1249S	PTPRS_ENST00000262963.6_Missense_Mutation_p.A1244S|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1226S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1226S|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1248S|PTPRS_ENST00000592099.1_Missense_Mutation_p.A817S|PTPRS_ENST00000353284.2_Missense_Mutation_p.A817S|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1248S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1248					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGAAGCACGGCAAGCACGAAG	0.622													6	270					0.00198382	0.00200201	1	0	A	5219973	C	A	5219973	3	1	408	1	0	0	0	0	1	0	0	0	12893	710	25	4	2172	4	PTPRS	19	5219973	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	11606	5219973	53909010	3474	81292											
SAFB2	9667	broad.mit.edu	37	chr19	5593976	5593976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctgctggcgccgcagCtcctcgcgctcgcggtggat	2	9	14	16	6	0	0	0	0	0	0	4	1	2	1	3	3	3	5	3	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5593976C>T	ENST00000252542.4	-	15	2397	c.2133G>A	c.(2131-2133)gaG>gaA	p.E711E		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	711	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GGCGCCGCAGCTCCTCGCGCT	0.741													4	9					0	0	0	0	T	5593976	C	T	5593976	2	4	408	1	0	0	0	0	0	0	0	1	13892	796	28	4		4	SAFB2	19	5593976	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	374003	5593976	53535007	3475	81293											
NRTN	4902	broad.mit.edu	37	chr19	5824275	5824275	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcttctcagccaccgcctCggacctgcgctggtccccct	3	9	9	20	3	1	0	1	0	1	0	4	1	2	1	6	2	3	2	6	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5824275C>T	ENST00000303212.2	+	1	463	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	33					axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity	p.L33L(1)		large_intestine(1)	1						GCCACCGCCTCGGACCTGCGC	0.672													6	17					0	0	0	0	T	5824275	C	T	5824275	2	4	408	1	0	0	0	0	0	0	0	1	10735	871	31	1		1	NRTN	19	5824275	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	230299	5824275	53304708	3476	81294											
GTF2F1	2962	broad.mit.edu	37	chr19	6380415	6380415	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccctgtcttcttggtctgGaactttttcagcaggtcctt	5	16	9	11	0	4	0	1	0	3	0	5	1	5	1	2	3	3	1	2	3	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:6380415G>A	ENST00000394456.5	-	13	1895	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	GTF2F1_ENST00000429701.2_Silent_p.F392F	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	477					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TCTTGGTCTGGAACTTTTTCA	0.577													5	260					0	0	0	0	A	6380415	G	A	6380415	2	1	408	1	0	0	0	0	0	0	0	1	6908	1165	41	2		2	GTF2F1	19	6380415	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	556140	6380415	52748568	3477	81295											
GPR108	56927	broad.mit.edu	37	chr19	6732499	6732499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactcacaggtgtgcgatgTagtacatgacggcaaggcct	11	8	12	10	2	1	1	1	1	0	0	1	2	1	1	1	3	2	3	1	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:6732499T>C	ENST00000264080.7	-	11	1021	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	GPR108_ENST00000430424.4_Missense_Mutation_p.Y90C	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	332						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GTGTGCGATGTAGTACATGAC	0.627													21	69					0	0	0	0	C	6732499	T	C	6732499	3	2	408	1	0	0	0	0	1	0	0	0	6673	1638	57	5	668	5	GPR108	19	6732499	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	352084	6732499	52396484	3478	81296											
VAV1	7409	broad.mit.edu	37	chr19	6850745	6850746	+	Frame_Shift_Ins	INS	-	-	G																															actgtaccggatcacagagaINSaaaaggctttccgggggctt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:6850745_6850746insG	ENST00000304076.2	+	23	2222_2223	c.2128_2129insG	c.(2128-2130)aaafs	p.K710fs	VAV1_ENST00000596764.1_Frame_Shift_Ins_p.K700fs|VAV1_ENST00000539284.1_Frame_Shift_Ins_p.K635fs|VAV1_ENST00000602142.1_Frame_Shift_Ins_p.K732fs|VAV1_ENST00000599806.1_Frame_Shift_Ins_p.K677fs	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	732	SH2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GATCACAGAGAAAAAGGCTTTC	0.559													21	71	---	---	---	---					G	6850746	-	G	6850745	7	5	408	1	0	1	1	0	0	0	0	0	17227	247	9	0	2288	0	VAV1	19	6850745	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	118246	6850745	52278238	3479	81297											
ZNF557	79230	broad.mit.edu	37	chr19	7083661	7083662	+	Frame_Shift_Ins	INS	-	-	A																															cacatgagaactcacactggINSaaaaaaaccctatgaatgta																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7083661_7083662insA	ENST00000414706.1	+	8	1672_1673	c.1199_1200insA	c.(1198-1200)gaafs	p.E400fs	ZNF557_ENST00000252840.6_Frame_Shift_Ins_p.E400fs|ZNF557_ENST00000439035.2_Frame_Shift_Ins_p.E393fs	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		ACTCACACTGGAAAAAAACCCT	0.366													22	56	---	---	---	---					A	7083662	-	A	7083661	7	5	408	1	0	1	1	0	0	0	0	0	18083	1174	41	0	1221	0	ZNF557	19	7083661	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	232916	7083661	52045322	3480	81298											
ARHGEF18	23370	broad.mit.edu	37	chr19	7521272	7521272	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaagaaaaagatcagaaaTacgtctttgcttctgtggta	15	12	8	6	1	3	3	1	0	2	3	3	3	3	3	0	1	3	2	0	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7521272T>A	ENST00000359920.6	+	8	1853	c.1600T>A	c.(1600-1602)Tac>Aac	p.Y534N	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.N491K|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Y376N	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	534	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGATCAGAAATACGTCTTTGC	0.488													16	607					0	0	0	0	A	7521272	T	A	7521272	3	1	408	1	0	0	0	0	1	0	0	0	903	1406	49	5	1630	5	ARHGEF18	19	7521272	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	437611	7521272	51607711	3481	81299											
XAB2	56949	broad.mit.edu	37	chr19	7692197	7692197	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcgcaggaagcgcagatAcaggggccaaattcgagagt	13	5	15	8	3	0	3	0	1	0	2	1	5	0	4	1	3	3	2	1	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7692197A>G	ENST00000358368.4	-	4	491	c.454T>C	c.(454-456)Tat>Cat	p.Y152H	XAB2_ENST00000534844.1_Missense_Mutation_p.Y149H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	152					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGCGCAGATACAGGGGCCAA	0.647								Direct reversal of damage;Nucleotide excision repair (NER)					12	41					0	0	0	0	G	7692197	A	G	7692197	3	3	408	1	0	0	0	0	1	0	0	0	17514	391	14	5	2177	5	XAB2	19	7692197	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	170925	7692197	51436786	3482	81300											
STXBP2	6813	broad.mit.edu	37	chr19	7709636	7709636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctacatcctccttcggaAtggtgggtgggggctgcagg	5	10	16	10	1	1	0	0	0	1	0	4	1	3	1	2	6	2	3	2	6	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7709636A>G	ENST00000441779.2	+	14	1314	c.1277A>G	c.(1276-1278)aAt>aGt	p.N426S	STXBP2_ENST00000414284.2_Missense_Mutation_p.N412S|STXBP2_ENST00000221283.5_Missense_Mutation_p.N415S	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	415					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCTTCGGAATGGTGGGTGG	0.607													22	62					0	0	0	0	G	7709636	A	G	7709636	3	3	408	1	0	0	0	0	1	0	0	0	15443	101	4	5	1298	5	STXBP2	19	7709636	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	17439	7709636	51419347	3483	81301											
C19orf59	199675	broad.mit.edu	37	chr19	7743445	7743445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgttcagcagagcatcAccatggtcaggagcaagatt	12	9	10	10	1	3	2	3	0	0	2	4	3	4	3	2	2	3	4	2	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7743445A>G	ENST00000333598.3	+	5	896	c.442A>G	c.(442-444)Acc>Gcc	p.T148A	C19orf59_ENST00000597445.1_Missense_Mutation_p.T105A|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.H20R	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	148						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GCAGAGCATCACCATGGTCAG	0.512											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	58					0	0	0	0	G	7743445	A	G	7743445	3	3	408	1	0	0	0	0	1	0	0	0	1958	159	6	5	460	5	C19orf59	19	7743445	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	33809	7743445	51385538	3484	81302											
CLEC4G	339390	broad.mit.edu	37	chr19	7795312	7795312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggcccctgccggcttcagCcaagccctgggtcactgcgg	5	6	13	17	3	2	0	2	0	0	0	2	0	2	0	5	4	4	1	5	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7795312C>T	ENST00000328853.5	-	6	471	c.403G>A	c.(403-405)Gct>Act	p.A135T		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	135						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGGCTTCAGCCAAGCCCTGG	0.677													11	43					0	0	0	0	T	7795312	C	T	7795312	3	4	408	1	0	0	0	0	1	0	0	0	3547	739	26	4	494	4	CLEC4G	19	7795312	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	51867	7795312	51333671	3485	81303											
LRRC8E	80131	broad.mit.edu	37	chr19	7964151	7964151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgcacgtggaagagggCgacatcctgtacaccatgta	11	7	12	11	3	0	1	0	0	0	1	1	3	1	2	2	2	2	4	2	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7964151C>T	ENST00000306708.6	+	3	845	c.744C>T	c.(742-744)ggC>ggT	p.G248G	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	248						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGGAAGAGGGCGACATCCTGT	0.527													19	47					0	0	0	0	T	7964151	C	T	7964151	2	4	408	1	0	0	0	0	0	0	0	1	9089	755	27	1		1	LRRC8E	19	7964151	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	168839	7964151	51164832	3486	81304											
CD320	51293	broad.mit.edu	37	chr19	8369979	8369979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagcgccaggtgaggggCacgcataagccactggtgcg	8	5	16	12	4	0	1	0	1	0	0	1	1	0	1	2	4	3	3	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8369979C>T	ENST00000301458.5	-	2	268	c.204G>A	c.(202-204)gtG>gtA	p.V68V	CD320_ENST00000537716.2_Intron	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	68	LDL-receptor class A 1.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						AGGTGAGGGGCACGCATAAGC	0.652													9	25					0	0	0	0	T	8369979	C	T	8369979	2	4	408	1	0	0	0	0	0	0	0	1	3033	697	25	4		4	CD320	19	8369979	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	405828	8369979	50759004	3487	81305											
KANK3	256949	broad.mit.edu	37	chr19	8389336	8389336	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagagctgtgctcacctgGgtgtcgggctggcccgagct	4	9	15	13	2	1	1	1	0	0	1	3	2	2	1	3	3	3	4	3	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8389336G>T	ENST00000330915.3	-	10	2444	c.2379C>A	c.(2377-2379)acC>acA	p.T793T	KANK3_ENST00000593649.1_Silent_p.T793T	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	793										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGCTCACCTGGGTGTCGGGCT	0.587													7	11					2.0095e-06	2.05926e-06	1	0	T	8389336	G	T	8389336	2	4	408	1	0	0	0	0	0	0	0	1	8031	1219	43	4		4	KANK3	19	8389336	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	19357	8389336	50739647	3488	81306											
ZNF414	84330	broad.mit.edu	37	chr19	8577283	8577283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctcacttgaagtagcgaTtgggtttgtagtgcagtttg	7	15	14	5	1	1	1	1	1	1	0	2	2	1	1	0	2	2	5	0	2	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8577283T>C	ENST00000393927.4	-	4	631	c.518A>G	c.(517-519)aAt>aGt	p.N173S	ZNF414_ENST00000255616.8_Missense_Mutation_p.N173S	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						GAAGTAGCGATTGGGTTTGTA	0.602													22	73					0	0	0	0	C	8577283	T	C	8577283	3	2	408	1	0	0	0	0	1	0	0	0	17986	1493	52	5	688	5	ZNF414	19	8577283	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	187947	8577283	50551700	3489	81307											
MYO1F	4542	broad.mit.edu	37	chr19	8619427	8619427	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgttgtccgtgagggcgTagatgtgcgggggattctca	7	11	16	7	3	1	2	1	1	1	1	3	3	2	3	1	3	1	2	1	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8619427T>C	ENST00000338257.8	-	4	527	c.260A>G	c.(259-261)tAc>tGc	p.Y87C		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	87	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGTGAGGGCGTAGATGTGCGG	0.612													7	212					0	0	0	0	C	8619427	T	C	8619427	3	2	408	1	0	0	0	0	1	0	0	0	10143	1638	57	5	3136	5	MYO1F	19	8619427	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	42144	8619427	50509556	3490	81308											
MBD3L1	85509	broad.mit.edu	37	chr19	8953875	8953875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgcaatagcactgattgCggatggactcgctaatgagg	11	9	12	9	3	0	2	0	2	0	0	2	4	0	4	0	3	2	3	0	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8953875C>T	ENST00000595891.1	+	3	752	c.521C>T	c.(520-522)gCg>gTg	p.A174V	MBD3L1_ENST00000305625.2_Missense_Mutation_p.A174V			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GCACTGATTGCGGATGGACTC	0.448													7	25					0	0	0	0	T	8953875	C	T	8953875	3	4	408	1	0	0	0	0	1	0	0	0	9414	768	27	1	523	1	MBD3L1	19	8953875	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	334448	8953875	50175108	3491	81309											
MUC16	94025	broad.mit.edu	37	chr19	9011372	9011372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggggcccagctctttgAtgccatgggtcagctggctc	5	11	14	11	0	2	1	1	1	1	0	3	1	2	1	2	4	3	4	2	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9011372A>T	ENST00000397910.4	-	36	39064	c.38861T>A	c.(38860-38862)aTc>aAc	p.I12954N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12956	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCTCTTTGATGCCATGGGT	0.552													108	275					0	0	0	0	T	9011372	A	T	9011372	3	4	408	1	0	0	0	0	1	0	0	0	10043	333	12	5	4858	5	MUC16	19	9011372	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	57497	9011372	50117611	3492	81310											
MUC16	94025	broad.mit.edu	37	chr19	9020058	9020058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattggtcagttggctcagCtcccagtacagccgctctct	6	11	9	15	1	3	0	2	0	1	0	5	0	4	0	3	2	3	5	3	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9020058C>T	ENST00000397910.4	-	21	37640	c.37437G>A	c.(37435-37437)gaG>gaA	p.E12479E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12481	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGCTCAGCTCCCAGTACA	0.552													7	338					0	0	0	0	T	9020058	C	T	9020058	2	4	408	1	0	0	0	0	0	0	0	1	10043	796	28	4		4	MUC16	19	9020058	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	8686	9020058	50108925	3493	81311											
MUC16	94025	broad.mit.edu	37	chr19	9024886	9024886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttcaatgtcattggTcagtttgcttagctcccagt	7	15	8	11	0	4	0	3	0	1	0	5	0	5	0	1	1	3	4	1	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9024886T>C	ENST00000397910.4	-	16	37179	c.36976A>G	c.(36976-36978)Acc>Gcc	p.T12326A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12328	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCATTGGTCAGTTTGCTT	0.557													68	212					0	0	0	0	C	9024886	T	C	9024886	3	2	408	1	0	0	0	0	1	0	0	0	10043	1667	58	5	6823	5	MUC16	19	9024886	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4828	9024886	50104097	3494	81312											
MUC16	94025	broad.mit.edu	37	chr19	9073349	9073349	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgaggtttccaaggtTgatgtgtctaaggcaagtgg	8	12	14	7	0	1	2	0	2	1	0	2	2	2	2	2	4	1	4	2	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9073349T>C	ENST00000397910.4	-	3	14300	c.14097A>G	c.(14095-14097)tcA>tcG	p.S4699S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4701	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCCAAGGTTGATGTGTCTA	0.478													19	207					0	0	0	0	C	9073349	T	C	9073349	2	2	408	1	0	0	0	0	0	0	0	1	10043	1799	63	5		5	MUC16	19	9073349	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	48463	9073349	50055634	3495	81313											
MUC16	94025	broad.mit.edu	37	chr19	9088668	9088668	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcttgtgtccaatcttccTtcagtaatgtagccctttcc	6	16	7	12	0	2	0	1	0	1	0	5	0	5	0	4	1	1	3	4	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9088668T>C	ENST00000397910.4	-	1	3350	c.3147A>G	c.(3145-3147)gaA>gaG	p.E1049E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1049	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAATCTTCCTTCAGTAATGT	0.468													28	105					0	0	0	0	C	9088668	T	C	9088668	2	2	408	1	0	0	0	0	0	0	0	1	10043	1606	56	5		5	MUC16	19	9088668	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	15319	9088668	50040315	3496	81314											
ZNF699	374879	broad.mit.edu	37	chr19	9406700	9406700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacatgtgctctaaaggaCgagggacaactaaaggcctt	13	8	10	10	1	2	0	1	0	1	0	2	3	2	2	1	3	2	1	1	3	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9406700C>T	ENST00000591998.1	-	6	1608	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	ZNF699_ENST00000308650.3_Silent_p.S460S			Q32M78	ZN699_HUMAN	zinc finger protein 699	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCTAAAGGACGAGGGACAAC	0.448													10	43					0	0	0	0	T	9406700	C	T	9406700	2	4	408	1	0	0	0	0	0	0	0	1	18196	523	19	1		1	ZNF699	19	9406700	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	318032	9406700	49722283	3497	81315											
ZNF426	79088	broad.mit.edu	37	chr19	9644626	9644626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtccacagccacatcgTcaaaggtcactgaatcctaa	14	8	7	12	1	2	2	2	2	0	0	5	2	4	2	3	1	1	0	3	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9644626T>C	ENST00000593003.1	-	3	497	c.20A>G	c.(19-21)gAc>gGc	p.D7G	ZNF426_ENST00000535489.1_Missense_Mutation_p.D45G|ZNF426_ENST00000589289.1_Missense_Mutation_p.D45G|ZNF426_ENST00000253115.2_Missense_Mutation_p.D45G			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGCCACATCGTCAAAGGTCAC	0.522													11	140					0	0	0	0	C	9644626	T	C	9644626	3	2	408	1	0	0	0	0	1	0	0	0	17995	1667	58	5	1546	5	ZNF426	19	9644626	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	237926	9644626	49484357	3498	81316											
ZNF562	54811	broad.mit.edu	37	chr19	9767279	9767279	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctgctgaagtgatgaccGtttggttctaggttgtattt	7	16	11	7	1	1	3	0	3	1	0	1	3	1	3	2	2	1	5	2	2	3	6	rs151017672	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9767279G>A	ENST00000537617.1	-	0	360				ZNF562_ENST00000293648.4_Missense_Mutation_p.R26W|ZNF562_ENST00000453792.2_Missense_Mutation_p.R29W|ZNF562_ENST00000587392.1_Intron|ZNF562_ENST00000448622.1_Missense_Mutation_p.R98W|ZNF562_ENST00000590155.1_Missense_Mutation_p.R98W|ZNF562_ENST00000453372.2_Missense_Mutation_p.R98W|ZNF562_ENST00000541032.1_Missense_Mutation_p.R61W			Q6V9R5	ZN562_HUMAN	zinc finger protein 562						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTGATGACCGTTTGGTTCTA	0.323													32	110					0	0	0	0	A	9767279	G	A	9767279	1	1	408	1	0	0	0	0	0	0	0	0	18088	1144	40	1		1	ZNF562	19	9767279	Translation_Start_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	122653	9767279	49361704	3499	81317											
OLFM2	93145	broad.mit.edu	37	chr19	9967507	9967507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatccgcactgggggccatCgtgtcagtcatccaggagcc	7	8	12	14	2	2	0	2	0	0	0	5	1	4	1	4	3	1	1	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9967507C>T	ENST00000264833.4	-	5	848	c.663G>A	c.(661-663)acG>acA	p.T221T	OLFM2_ENST00000590841.1_Silent_p.T143T	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	221	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGGGGGCCATCGTGTCAGTCA	0.662													10	22					0	0	0	0	T	9967507	C	T	9967507	2	4	408	1	0	0	0	0	0	0	0	1	10924	871	31	1		1	OLFM2	19	9967507	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	200228	9967507	49161476	3500	81318											
COL5A3	50509	broad.mit.edu	37	chr19	10079145	10079145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctcccggggggccaatGagaccgatcaatccaatgtg	9	8	12	12	2	2	1	1	1	1	1	4	3	3	1	4	3	0	1	4	3	3	1	rs141650534		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10079145G>A	ENST00000264828.3	-	59	4315	c.4230C>T	c.(4228-4230)ctC>ctT	p.L1410L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1410	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.L1410L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGGCCAATGAGACCGATCA	0.592													66	158					0	0	0	0	A	10079145	G	A	10079145	2	1	408	1	0	0	0	0	0	0	0	1	3728	1277	45	2		2	COL5A3	19	10079145	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	111638	10079145	49049838	3501	81319											
COL5A3	50509	broad.mit.edu	37	chr19	10088132	10088132	+	Frame_Shift_Del	DEL	G	G	-																															catctttgccagtggggccaGgggggccacgttctccctgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10088132delG	ENST00000264828.3	-	43	3228	c.3143delC	c.(3142-3144)ctfs	p.P1048fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1048	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGTGGGGCCAGGGGGGCCACG	0.662													44	151	---	---	---	---					-	10088132	G	-	10088132	7	5	408	1	0	1	0	1	0	0	0	0	3728	1000	35	0	2194	0	COL5A3	19	10088132	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	8987	10088132	49040851	3502	81320											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10220380	10220380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagctggacttccgccActagtgagtgtcccagcagg	8	7	13	13	1	0	1	0	1	0	0	2	3	2	3	4	3	2	2	4	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10220380A>G	ENST00000428358.1	+	6	759	c.587A>G	c.(586-588)cAc>cGc	p.H196R	PPAN_ENST00000253107.7_Missense_Mutation_p.H196R|PPAN_ENST00000556468.1_Missense_Mutation_p.H196R|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.H196R|PPAN_ENST00000393793.1_Missense_Mutation_p.H143R	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		196	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GACTTCCGCCACTAGTGAGTG	0.607													52	204					0	0	0	0	G	10220380	A	G	10220380	3	3	408	1	0	0	0	0	1	0	0	0	12360	159	6	5	609	5	PPAN-P2RY11	19	10220380	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	132248	10220380	48908603	3503	81321											
DNMT1	1786	broad.mit.edu	37	chr19	10247831	10247831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcctgtcatggtgggtAtaccgcagcttcctggccat	5	14	10	12	1	2	0	1	0	1	0	4	0	4	0	4	3	2	3	4	3	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10247831A>G	ENST00000340748.4	-	36	4606	c.4371T>C	c.(4369-4371)taT>taC	p.Y1457Y	DNMT1_ENST00000540357.1_Silent_p.Y1457Y|DNMT1_ENST00000359526.4_Silent_p.Y1473Y			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1457	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CATGGTGGGTATACCGCAGCT	0.652													4	12					0	0	0	0	G	10247831	A	G	10247831	2	3	408	1	0	0	0	0	0	0	0	1	4711	456	16	5		5	DNMT1	19	10247831	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	27451	10247831	48881152	3504	81322											
ICAM5	7087	broad.mit.edu	37	chr19	10405307	10405307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcccggaccgtcactgtgGgcgtggaatgtgagtggggg	6	8	18	9	3	1	1	1	1	0	0	2	3	2	3	2	5	0	0	2	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10405307G>T	ENST00000221980.4	+	9	2284	c.2221G>T	c.(2221-2223)Ggc>Tgc	p.G741C		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	741					cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGTCACTGTGGGCGTGGAATG	0.652													20	88					4.26978e-12	4.44313e-12	1	0	T	10405307	G	T	10405307	3	4	408	1	0	0	0	0	1	0	0	0	7536	1232	43	4	2255	4	ICAM5	19	10405307	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	157476	10405307	48723676	3505	81323											
TYK2	7297	broad.mit.edu	37	chr19	10464742	10464742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctcgcagcagcccttgtActtgatgatgtgctcgtggt	5	13	12	11	2	0	2	0	2	0	0	3	2	1	2	2	1	4	4	2	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10464742A>G	ENST00000525621.1	-	20	3365	c.2884T>C	c.(2884-2886)Tac>Cac	p.Y962H	TYK2_ENST00000524462.1_Missense_Mutation_p.Y777H|TYK2_ENST00000264818.6_Missense_Mutation_p.Y962H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	962	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCCCTTGTACTTGATGATG	0.647													37	82					0	0	0	0	G	10464742	A	G	10464742	3	3	408	1	0	0	0	0	1	0	0	0	16906	391	14	5	703	5	TYK2	19	10464742	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	59435	10464742	48664241	3506	81324											
TYK2	7297	broad.mit.edu	37	chr19	10475301	10475301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactcacagcaggggtccGtggatcccatcccggatgct	8	7	12	14	2	1	0	1	0	0	0	4	2	4	2	3	4	3	3	3	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10475301G>A	ENST00000525621.1	-	9	1837	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	TYK2_ENST00000529370.1_Silent_p.H452H|TYK2_ENST00000524462.1_Silent_p.H267H|TYK2_ENST00000264818.6_Silent_p.H452H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	452	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCAGGGGTCCGTGGATCCCAT	0.667													40	117					0	0	0	0	A	10475301	G	A	10475301	2	1	408	1	0	0	0	0	0	0	0	1	16906	1136	40	1		1	TYK2	19	10475301	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	10559	10475301	48653682	3507	81325											
TYK2	7297	broad.mit.edu	37	chr19	10478977	10478977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtctccacccaccttatgCggaaatatagcatcaggctt	11	10	8	12	1	2	0	1	0	1	0	3	1	2	1	3	3	2	2	3	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10478977C>T	ENST00000525621.1	-	4	792	c.311G>A	c.(310-312)cGc>cAc	p.R104H	TYK2_ENST00000529370.1_Missense_Mutation_p.R104H|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.R104H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	104	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.R104L(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCACCTTATGCGGAAATATAG	0.552													5	238					0	0	0	0	T	10478977	C	T	10478977	3	4	408	1	0	0	0	0	1	0	0	0	16906	768	27	1	3340	1	TYK2	19	10478977	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3676	10478977	48650006	3508	81326											
KRI1	65095	broad.mit.edu	37	chr19	10670071	10670071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcagggtcgaagtcGtcttcaaggtccccctcctc	5	10	12	14	2	2	0	1	0	1	0	7	1	4	0	3	3	1	2	3	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10670071G>A	ENST00000312962.6	-	12	1195	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	KRI1_ENST00000361821.5_Silent_p.D388D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	392	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGTCGAAGTCGTCTTCAAGGT	0.587													24	60					0	0	0	0	A	10670071	G	A	10670071	2	1	408	1	0	0	0	0	0	0	0	1	8496	1136	40	1		1	KRI1	19	10670071	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	191094	10670071	48458912	3509	81327											
DNM2	1785	broad.mit.edu	37	chr19	10906067	10906067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagtttgacgagaaggActtacgacgggagatcagct	12	8	15	6	3	1	3	1	1	0	2	1	9	1	5	0	3	2	2	0	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10906067A>G	ENST00000314646.5	+	9	1312	c.1148A>G	c.(1147-1149)gAc>gGc	p.D383G	DNM2_ENST00000585892.1_Missense_Mutation_p.D383G|DNM2_ENST00000408974.4_Missense_Mutation_p.D383G|DNM2_ENST00000359692.6_Missense_Mutation_p.D383G|DNM2_ENST00000389253.4_Missense_Mutation_p.D383G|DNM2_ENST00000355667.6_Missense_Mutation_p.D383G			P50570	DYN2_HUMAN	dynamin 2	383					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACGAGAAGGACTTACGACGG	0.567			"F, N, Splice, Mis, O"		ETP ALL								33	96					0	0	0	0	G	10906067	A	G	10906067	3	3	408	1	0	0	0	0	1	0	0	0	4708	275	10	5	1182	5	DNM2	19	10906067	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	235996	10906067	48222916	3510	81328											
CARM1	10498	broad.mit.edu	37	chr19	11022950	11022950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgcggtggaggccagcAccatggcccagcacgctgag	8	5	14	14	3	1	1	0	1	1	0	1	2	1	2	3	4	3	3	3	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11022950A>G	ENST00000327064.4	+	5	839	c.649A>G	c.(649-651)Acc>Gcc	p.T217A	CARM1_ENST00000344150.4_Missense_Mutation_p.T217A	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	217					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGAGGCCAGCACCATGGCCCA	0.632													7	275					0	0	0	0	G	11022950	A	G	11022950	3	3	408	1	0	0	0	0	1	0	0	0	2680	159	6	5	667	5	CARM1	19	11022950	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	116883	11022950	48106033	3511	81329											
SMARCA4	6597	broad.mit.edu	37	chr19	11107214	11107214	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcctgccattgggccggaTggcgaggtgaggaagcaggg	8	5	19	9	3	0	1	0	1	0	0	0	4	0	3	3	6	2	1	3	6	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11107214T>C	ENST00000358026.2	+	11	2090	c.1806T>C	c.(1804-1806)gaT>gaC	p.D602D	SMARCA4_ENST00000344626.4_Silent_p.D602D|SMARCA4_ENST00000590574.1_Silent_p.D602D|SMARCA4_ENST00000450717.3_Silent_p.D602D|SMARCA4_ENST00000413806.3_Silent_p.D602D|SMARCA4_ENST00000589677.1_Silent_p.D602D|SMARCA4_ENST00000444061.3_Silent_p.D602D|SMARCA4_ENST00000541122.2_Silent_p.D602D|SMARCA4_ENST00000429416.3_Silent_p.D602D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	602					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGGGCCGGATGGCGAGGTGA	0.507			"F, N, Mis"		NSCLC								30	117					0	0	0	0	C	11107214	T	C	11107214	2	2	408	1	0	0	0	0	0	0	0	1	14858	1461	51	5		5	SMARCA4	19	11107214	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	84264	11107214	48021769	3512	81330											
SMARCA4	6597	broad.mit.edu	37	chr19	11132435	11132435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgattgtggacgaaggtcAccgcatgaagaaccaccact	13	7	10	11	2	1	3	1	2	0	1	1	5	1	4	3	2	1	1	3	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11132435A>G	ENST00000358026.2	+	19	2935	c.2651A>G	c.(2650-2652)cAc>cGc	p.H884R	SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H884P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGAAGGTCACCGCATGAAG	0.622			"F, N, Mis"		NSCLC								8	33					0	0	0	0	G	11132435	A	G	11132435	3	3	408	1	0	0	0	0	1	0	0	0	14858	159	6	5	2721	5	SMARCA4	19	11132435	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	25221	11132435	47996548	3513	81331											
LDLR	3949	broad.mit.edu	37	chr19	11227551	11227551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagatctcctcagtggccgCctctactgggttgactccaa	7	11	9	14	1	3	2	1	1	2	1	5	2	4	2	4	2	1	1	4	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11227551C>T	ENST00000558518.1	+	12	1909	c.1722C>T	c.(1720-1722)cgC>cgT	p.R574R	LDLR_ENST00000558013.1_Silent_p.R574R|LDLR_ENST00000557933.1_Silent_p.R574R|LDLR_ENST00000545707.1_Silent_p.R447R|LDLR_ENST00000455727.2_Silent_p.R406R|LDLR_ENST00000535915.1_Silent_p.R533R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	574					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCAGTGGCCGCCTCTACTGGG	0.587													5	277					0	0	0	0	T	11227551	C	T	11227551	2	4	408	1	0	0	0	0	0	0	0	1	8757	726	26	4		4	LDLR	19	11227551	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	95116	11227551	47901432	3514	81332											
KANK2	25959	broad.mit.edu	37	chr19	11304261	11304261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactccgtggtgtcgggggTggcaaccccacgcccaccag	7	5	14	15	3	0	0	0	0	0	0	2	1	1	0	5	4	2	1	5	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11304261T>C	ENST00000432929.2	-	4	855	c.495A>G	c.(493-495)ccA>ccG	p.P165P	KANK2_ENST00000589359.1_Silent_p.P165P|KANK2_ENST00000355150.5_Silent_p.P165P|KANK2_ENST00000589894.1_Silent_p.P165P|KANK2_ENST00000586659.1_Silent_p.P165P	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	165										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGTCGGGGGTGGCAACCCCA	0.736													12	22					0	0	0	0	C	11304261	T	C	11304261	2	2	408	1	0	0	0	0	0	0	0	1	8030	1683	59	5		5	KANK2	19	11304261	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	76710	11304261	47824722	3515	81333											
CCDC151	115948	broad.mit.edu	37	chr19	11532352	11532352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgcagggcacctcgcggTtagcgatgtggcacagcatc	7	7	15	12	3	0	0	0	0	0	0	2	1	0	0	1	4	3	6	1	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11532352T>C	ENST00000356392.4	-	11	1670	c.1583A>G	c.(1582-1584)aAc>aGc	p.N528S	CCDC151_ENST00000545100.1_Missense_Mutation_p.N474S|CCDC151_ENST00000586836.1_Missense_Mutation_p.N337S|CCDC151_ENST00000591179.1_Missense_Mutation_p.N468S	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	528										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CACCTCGCGGTTAGCGATGTG	0.617													52	165					0	0	0	0	C	11532352	T	C	11532352	3	2	408	1	0	0	0	0	1	0	0	0	2811	1725	60	5	216	5	CCDC151	19	11532352	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	228091	11532352	47596631	3516	81334											
CCDC151	115948	broad.mit.edu	37	chr19	11541547	11541547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgttcttcaggtatggcTtctcccacttccattcgcga	5	15	7	14	2	3	0	1	0	2	0	7	1	5	0	3	2	0	3	3	2	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11541547T>C	ENST00000356392.4	-	3	503	c.416A>G	c.(415-417)aAg>aGg	p.K139R	CCDC151_ENST00000545100.1_Missense_Mutation_p.K85R|CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000591179.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	139										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGGTATGGCTTCTCCCACTT	0.577													48	134					0	0	0	0	C	11541547	T	C	11541547	3	2	408	1	0	0	0	0	1	0	0	0	2811	1609	56	5	1415	5	CCDC151	19	11541547	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9195	11541547	47587436	3517	81335											
CCDC151	115948	broad.mit.edu	37	chr19	11545754	11545754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccgaagcctccctgccCttgaccctggaagagggcgt	6	8	12	15	2	0	2	0	1	0	1	1	4	1	3	5	2	3	0	5	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11545754C>G	ENST00000356392.4	-	1	171	c.84G>C	c.(82-84)aaG>aaC	p.K28N	CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000591179.1_Missense_Mutation_p.K28N	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	28										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTCCCTGCCCTTGACCCTGG	0.667											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	97					0	0	0	0	G	11545754	C	G	11545754	3	3	408	1	0	0	0	0	1	0	0	0	2811	680	24	4	1755	4	CCDC151	19	11545754	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	4207	11545754	47583229	3518	81336											
ZNF823	55552	broad.mit.edu	37	chr19	11832719	11832719	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgaattctttcatgtcGtagaaggcaagtgagccaag	12	11	12	6	1	2	3	1	2	1	1	3	3	2	3	1	1	1	2	1	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11832719G>A	ENST00000341191.6	-	4	1783	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	ZNF823_ENST00000545749.1_Nonsense_Mutation_p.R362*	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTTTCATGTCGTAGAAGGCAA	0.408										HNSCC(68;0.2)			16	72					0	0	0	0	A	11832719	G	A	11832719	4	1	408	1	0	0	0	0	0	1	0	0	18272	1153	40	1	206	1	ZNF823	19	11832719	Nonsense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	286965	11832719	47296264	3519	81337											
ZNF440	126070	broad.mit.edu	37	chr19	11942804	11942804	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatagtcccagatcctaTcgtagacatgaaaggattca	13	12	7	9	1	2	3	2	1	0	2	5	4	4	4	2	1	0	1	2	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11942804T>C	ENST00000304060.5	+	4	977	c.813T>C	c.(811-813)taT>taC	p.Y271Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAGATCCTATCGTAGACATG	0.403													4	81					0	0	0	0	C	11942804	T	C	11942804	2	2	408	1	0	0	0	0	0	0	0	1	18008	1442	50	5		5	ZNF440	19	11942804	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	110085	11942804	47186179	3520	81338											
ZNF439	90594	broad.mit.edu	37	chr19	11979202	11979202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagagaaaccgtatcaaTgtaaggaatgtgggaaagct	15	8	13	5	1	1	1	1	0	0	1	1	5	1	4	1	3	2	3	1	3	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11979202T>C	ENST00000304030.2	+	3	1518	c.1318T>C	c.(1318-1320)Tgt>Cgt	p.C440R	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.C304R	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACCGTATCAATGTAAGGAATG	0.438													9	74					0	0	0	0	C	11979202	T	C	11979202	3	2	408	1	0	0	0	0	1	0	0	0	18006	1464	51	5	1328	5	ZNF439	19	11979202	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	36398	11979202	47149781	3521	81339											
ZNF442	79973	broad.mit.edu	37	chr19	12460905	12460905	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagaaaggtatgtgaaacaActgaatgctttcccacattc	14	11	8	8	0	0	3	0	3	0	1	2	4	1	3	1	1	3	2	1	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12460905A>G	ENST00000242804.4	-	6	2076	c.1494T>C	c.(1492-1494)agT>agC	p.S498S	ZNF442_ENST00000438182.1_Silent_p.S429S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ATGTGAAACAACTGAATGCTT	0.363													9	102					0	0	0	0	G	12460905	A	G	12460905	2	3	408	1	0	0	0	0	0	0	0	1	18010	40	2	5		5	ZNF442	19	12460905	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	481703	12460905	46668078	3522	81340											
ZNF791	163049	broad.mit.edu	37	chr19	12738816	12738816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggagtcacactggagaaaAaccctataaatgtaaacaat	20	7	7	7	0	1	1	1	0	0	1	1	3	1	2	1	2	2	1	1	2	9	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12738816A>G	ENST00000343325.4	+	4	635	c.473A>G	c.(472-474)aAa>aGa	p.K158R	ZNF791_ENST00000458122.3_Missense_Mutation_p.K126R|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.K49R	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACTGGAGAAAAACCCTATAAA	0.373													12	83					0	0	0	0	G	12738816	A	G	12738816	3	3	408	1	0	0	0	0	1	0	0	0	18256	14	1	5	487	5	ZNF791	19	12738816	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	277911	12738816	46390167	3523	81341											
TNPO2	30000	broad.mit.edu	37	chr19	12822153	12822153	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcatcgtcatcctcCgcgtcctcggagccatcagg	7	10	8	16	4	5	0	5	0	0	0	10	1	8	1	4	2	1	0	4	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12822153C>T	ENST00000425528.1	-	12	1431	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	TNPO2_ENST00000588216.1_Silent_p.A358A|TNPO2_ENST00000450764.2_Silent_p.A358A|TNPO2_ENST00000592287.1_Silent_p.A358A|TNPO2_ENST00000441499.1_Silent_p.A358A|TNPO2_ENST00000356861.5_Silent_p.A358A|TNPO2_ENST00000589956.1_5'UTR			O14787	TNPO2_HUMAN	transportin 2	358					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTCATCCTCCGCGTCCTCGG	0.627													62	207					0	0	0	0	T	12822153	C	T	12822153	2	4	408	1	0	0	0	0	0	0	0	1	16430	639	23	1		1	TNPO2	19	12822153	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	83337	12822153	46306830	3524	81342											
KLF1	10661	broad.mit.edu	37	chr19	12995742	12995742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccaggtggtcagagcgcGaaaaagcacgtgggcagagc	12	3	17	9	3	1	2	1	0	0	2	1	3	1	2	1	4	3	2	1	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12995742G>A	ENST00000264834.4	-	3	1086	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	349					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGAGCGCGAAAAAGCACG	0.637													36	69					0	0	0	0	A	12995742	G	A	12995742	3	1	408	1	0	0	0	0	1	0	0	0	8389	1059	37	1	46	1	KLF1	19	12995742	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	173589	12995742	46133241	3525	81343											
TRMT1	55621	broad.mit.edu	37	chr19	13223788	13223788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccagatcgatgacgtcaaAcctctccgacaccctctggt	9	9	8	15	3	3	2	1	1	2	1	6	4	4	2	4	1	1	0	4	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:13223788A>G	ENST00000592062.1	-	7	1249	c.679T>C	c.(679-681)Ttt>Ctt	p.F227L	TRMT1_ENST00000437766.1_Missense_Mutation_p.F227L|TRMT1_ENST00000357720.4_Missense_Mutation_p.F227L|TRMT1_ENST00000221504.8_Missense_Mutation_p.F227L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	227							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		ATGACGTCAAACCTCTCCGAC	0.612													8	35					0	0	0	0	G	13223788	A	G	13223788	3	3	408	1	0	0	0	0	1	0	0	0	16656	43	2	5	1348	5	TRMT1	19	13223788	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	228046	13223788	45905195	3526	81344											
IER2	9592	broad.mit.edu	37	chr19	13264483	13264484	+	Frame_Shift_Ins	INS	-	-	C																															aagtcgccgatcgcctgcagINSccccctccggcgcaagcgga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:13264483_13264484insC	ENST00000588173.1	+	1	1695_1696	c.483_484insC	c.(481-486)caccccfs	p.HP161fs	IER2_ENST00000587885.1_Frame_Shift_Ins_p.HP161fs|IER2_ENST00000292433.3_Frame_Shift_Ins_p.HP161fs|CTC-250I14.6_ENST00000592882.1_RNA|CTC-250I14.6_ENST00000586483.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	161										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			ATCGCCTGCAGCCCCCTCCGGC	0.693											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	58	---	---	---	---					C	13264484	-	C	13264483	7	5	408	1	0	1	1	0	0	0	0	0	7558	962	34	0	485	0	IER2	19	13264483	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	40695	13264483	45864500	3527	81345											
CACNA1A	773	broad.mit.edu	37	chr19	13373574	13373574	+	Frame_Shift_Del	DEL	T	T	-																															ctttggcagccgcttgatggTtttaagaggtcgtagcaccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:13373574delT	ENST00000360228.5	-	25	4062	c.4063delA	c.(4063-4065)ccfs	p.T1355fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.T1356fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1356					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCTTGATGGTTTTAAGAGGT	0.517											OREG0025294	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	26	---	---	---	---					-	13373574	T	-	13373574	7	5	408	1	0	1	0	1	0	0	0	0	2563	1725	60	0	3651	0	CACNA1A	19	13373574	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	109091	13373574	45755409	3528	81346											
CACNA1A	773	broad.mit.edu	37	chr19	13423545	13423545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcccaagcccgtacatttTtataaacatttcggacataa	13	12	5	11	3	0	0	0	0	0	0	2	1	1	1	2	1	3	1	2	1	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:13423545T>C	ENST00000360228.5	-	12	1605	c.1606A>G	c.(1606-1608)Aaa>Gaa	p.K536E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.K537E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	537					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCGTACATTTTTATAAACATT	0.443													21	70					0	0	0	0	C	13423545	T	C	13423545	3	2	408	1	0	0	0	0	1	0	0	0	2563	1850	64	5	6169	5	CACNA1A	19	13423545	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	49971	13423545	45705438	3529	81347											
CC2D1A	54862	broad.mit.edu	37	chr19	14040401	14040401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccagaagtggcccagcagTaccaggacatcatgcaacgc	12	4	10	15	1	1	1	1	0	0	1	1	2	1	2	4	2	4	3	4	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14040401T>C	ENST00000318003.7	+	26	2879	c.2638T>C	c.(2638-2640)Tac>Cac	p.Y880H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y879H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	880					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCCCAGCAGTACCAGGACAT	0.662													3	26					0	0	0	0	C	14040401	T	C	14040401	3	2	408	1	0	0	0	0	1	0	0	0	2751	1638	57	5	2740	5	CC2D1A	19	14040401	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	616856	14040401	45088582	3530	81348											
DCAF15	90379	broad.mit.edu	37	chr19	14071164	14071164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggatcttcgagacagTcagtgtaggcgacctgactg	10	8	13	10	2	2	2	1	1	1	1	3	5	2	3	1	2	0	1	1	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14071164T>C	ENST00000254337.6	+	11	1613	c.1592T>C	c.(1591-1593)gTc>gCc	p.V531A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	531										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TTCGAGACAGTCAGTGTAGGC	0.612											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	88					0	0	0	0	C	14071164	T	C	14071164	3	2	408	1	0	0	0	0	1	0	0	0	4300	1667	58	5	1634	5	DCAF15	19	14071164	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	30763	14071164	45057819	3531	81349											
RFX1	5989	broad.mit.edu	37	chr19	14077341	14077341	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccatgacgtcgacaatgGcctgtggcagaggcggatgc	9	7	14	11	3	1	2	1	1	0	1	2	4	1	3	2	4	1	1	2	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14077341G>A	ENST00000254325.4	-	14	2087	c.1851_splice	c.e14-1	p.A618_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	618					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GTCGACAATGGCCTGTGGCAG	0.667													20	45					0	0	0	0	A	14077341	G	A	14077341	5	1	408	1	0	0	0	0	0	0	1	0	13344	1217	42	4	1118	4	RFX1	19	14077341	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6177	14077341	45051642	3532	81350											
ASF1B	55723	broad.mit.edu	37	chr19	14231467	14231467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggggttcgaggccaagatgTtccgctggagctggggcagg	6	7	20	8	2	0	1	0	0	0	1	2	3	1	2	2	7	1	5	2	7	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14231467T>C	ENST00000263382.3	-	4	912	c.413A>G	c.(412-414)aAc>aGc	p.N138S	ASF1B_ENST00000592798.1_Missense_Mutation_p.N79S	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	138	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GGCCAAGATGTTCCGCTGGAG	0.607													6	49					0	0	0	0	C	14231467	T	C	14231467	3	2	408	1	0	0	0	0	1	0	0	0	1042	1725	60	5	199	5	ASF1B	19	14231467	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	154126	14231467	44897516	3533	81351											
CD97	976	broad.mit.edu	37	chr19	14515304	14515304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggtgctgggcagcaagaAcggcagcaccacctgccaat	11	4	12	14	1	0	1	0	0	0	1	0	1	0	1	4	3	5	5	4	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14515304A>G	ENST00000242786.5	+	13	1639	c.1559A>G	c.(1558-1560)aAc>aGc	p.N520S	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.N471S|CD97_ENST00000358600.3_Missense_Mutation_p.N427S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	520	GPS.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCAGCAAGAACGGCAGCACC	0.622													20	90					0	0	0	0	G	14515304	A	G	14515304	3	3	408	1	0	0	0	0	1	0	0	0	3078	43	2	5	1609	5	CD97	19	14515304	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	283837	14515304	44613679	3534	81352											
CD97	976	broad.mit.edu	37	chr19	14517264	14517264	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgcgtgttccaaggccAgggcctgagtacgcgctggc	5	7	17	12	4	0	1	0	1	0	0	1	1	1	1	3	4	2	3	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14517264A>C	ENST00000242786.5	+	15	2023	c.1943A>C	c.(1942-1944)cAg>cCg	p.Q648P	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Q599P|CD97_ENST00000358600.3_Missense_Mutation_p.Q555P	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	648					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTCCAAGGCCAGGGCCTGAGT	0.652											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					0	0	0	0	C	14517264	A	C	14517264	3	2	408	1	0	0	0	0	1	0	0	0	3078	188	7	5	2001	5	CD97	19	14517264	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1960	14517264	44611719	3535	81353											
GIPC1	10755	broad.mit.edu	37	chr19	14589555	14589555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcatccaccttctcaatgGccttctcttcaaaggcagag	9	11	8	13	0	4	1	3	0	2	1	7	1	5	1	3	3	0	1	3	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14589555G>T	ENST00000393033.4	-	8	1060	c.791C>A	c.(790-792)gCc>gAc	p.A264D	GIPC1_ENST00000393029.3_Missense_Mutation_p.A167D|GIPC1_ENST00000345425.2_Missense_Mutation_p.A264D|GIPC1_ENST00000591349.1_Missense_Mutation_p.A167D|GIPC1_ENST00000393028.1_Missense_Mutation_p.A167D|GIPC1_ENST00000586027.1_Missense_Mutation_p.A264D	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	264					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTTCTCAATGGCCTTCTCTTC	0.557													91	227					6.07207e-39	6.43891e-39	1	0	T	14589555	G	T	14589555	3	4	408	1	0	0	0	0	1	0	0	0	6443	1203	42	4	218	4	GIPC1	19	14589555	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	72291	14589555	44539428	3536	81354											
EMR2	30817	broad.mit.edu	37	chr19	14875330	14875330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcctctaggccatccagCaggtgactggccacacagtg	10	7	10	14	0	1	1	0	1	1	0	3	1	3	1	4	3	1	1	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14875330C>T	ENST00000315576.3	-	11	1450	c.999G>A	c.(997-999)ctG>ctA	p.L333L	EMR2_ENST00000596991.2_Silent_p.L333L|EMR2_ENST00000353005.1_Silent_p.L191L|EMR2_ENST00000595839.1_Silent_p.L191L|EMR2_ENST00000346057.1_Silent_p.L284L|EMR2_ENST00000392967.2_Silent_p.L333L|EMR2_ENST00000601345.1_Silent_p.L333L|EMR2_ENST00000353876.1_Silent_p.L240L|EMR2_ENST00000392964.3_Silent_p.L72L|EMR2_ENST00000594294.1_Silent_p.L284L|EMR2_ENST00000392965.3_Silent_p.L333L|EMR2_ENST00000594076.1_Silent_p.L240L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	333					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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						GGCCATCCAGCAGGTGACTGG	0.602													13	60					0	0	0	0	T	14875330	C	T	14875330	2	4	408	1	0	0	0	0	0	0	0	1	5143	697	25	4		4	EMR2	19	14875330	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	285775	14875330	44253653	3537	81355											
OR7A5	26659	broad.mit.edu	37	chr19	14938707	14938707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accggtcataggccatcacgGacaggaggaagttttcaaat	13	8	11	9	2	3	0	3	0	0	0	3	3	3	3	2	5	0	1	2	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14938707G>A	ENST00000322301.3	-	2	434	c.347C>T	c.(346-348)tCc>tTc	p.S116F	OR7A5_ENST00000594432.1_Missense_Mutation_p.S116F|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGCCATCACGGACAGGAGGAA	0.478													41	91					0	0	0	0	A	14938707	G	A	14938707	3	1	408	1	0	0	0	0	1	0	0	0	11287	1174	41	2	616	2	OR7A5	19	14938707	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	63377	14938707	44190276	3538	81356											
ILVBL	10994	broad.mit.edu	37	chr19	15230010	15230010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatccgccttcttcagggCcgcactgcggttctcccgga	5	9	11	16	4	3	0	1	0	2	0	5	2	4	1	4	3	1	2	4	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15230010C>T	ENST00000263383.3	-	9	1157	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T	ILVBL_ENST00000534378.1_Missense_Mutation_p.A233T	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	340						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TTCTTCAGGGCCGCACTGCGG	0.632													5	100					0	0	0	0	T	15230010	C	T	15230010	3	4	408	1	0	0	0	0	1	0	0	0	7768	739	26	4	912	4	ILVBL	19	15230010	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	291303	15230010	43898973	3539	81357											
BRD4	23476	broad.mit.edu	37	chr19	15376248	15376248	+	Frame_Shift_Del	DEL	G	G	-																															agcgggtgggggttgtggctGggggggcactggcgggggcg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15376248delG	ENST00000263377.2	-	5	987	c.766delC	c.(766-768)agfs	p.Q256fs	BRD4_ENST00000360016.5_Frame_Shift_Del_p.Q256fs|BRD4_ENST00000371835.4_Frame_Shift_Del_p.Q256fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	256					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGTTGTGGCTGGGGGGGCACT	0.687			T	C15orf55	lethal midline carcinoma of young people								10	30	---	---	---	---					-	15376248	G	-	15376248	7	5	408	1	0	1	0	1	0	0	0	0	1512	1357	47	0	3401	0	BRD4	19	15376248	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	146238	15376248	43752735	3540	81358											
AKAP8	10270	broad.mit.edu	37	chr19	15472959	15472959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtcgggcagcttggtgcTtatgaaccgcagggtctctt	5	13	13	10	2	1	1	0	1	1	0	3	1	1	1	1	3	3	4	1	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15472959T>C	ENST00000269701.2	-	10	1324	c.1264A>G	c.(1264-1266)Agc>Ggc	p.S422G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	422					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGCTTGGTGCTTATGAACCGC	0.537													3	50					0	0	0	0	C	15472959	T	C	15472959	3	2	408	1	0	0	0	0	1	0	0	0	457	1609	56	5	834	5	AKAP8	19	15472959	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	96711	15472959	43656024	3541	81359											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586853	15586853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccatggtcggtggggActtggctttggcatctggca	5	11	15	10	1	1	0	0	0	1	0	3	1	2	1	2	7	0	3	2	7	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15586853A>G	ENST00000292609.4	-	2	757	c.628T>C	c.(628-630)Tcc>Ccc	p.S210P	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.S210P			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	210					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTCGGTGGGGACTTGGCTTTG	0.577													64	151					0	0	0	0	G	15586853	A	G	15586853	3	3	408	1	0	0	0	0	1	0	0	0	11866	275	10	5	1118	5	PGLYRP2	19	15586853	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	113894	15586853	43542130	3542	81360											
CYP4F8	11283	broad.mit.edu	37	chr19	15739180	15739180	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggttgcatcccccaaTccctacattcgcccgcggct	5	9	8	19	4	0	0	0	0	0	0	3	0	2	0	5	2	3	3	5	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15739180T>C	ENST00000441682.2	+	0	1245							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CATCCCCCAATCCCTACATTC	0.622													31	125					0	0	0	0	C	15739180	T	C	15739180	1	2	408	0	1	0	0	0	0	0	0	0	4223	1435	50	5		5	CYP4F8	19	15739180	RNA	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	152327	15739180	43389803	3543	81361											
CYP4F8	11283	broad.mit.edu	37	chr19	15740180	15740180	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgaggcctgcagtgAcccacccacctacctttgca	7	8	10	16	0	0	2	0	2	0	0	0	2	0	2	5	2	3	3	5	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15740180A>G	ENST00000441682.2	+	0	1636							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCTGCAGTGACCCACCCACC	0.582													3	21					0	0	0	0	G	15740180	A	G	15740180	1	3	408	0	1	0	0	0	0	0	0	0	4223	290	10	5		5	CYP4F8	19	15740180	RNA	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1000	15740180	43388803	3544	81362											
CYP4F11	57834	broad.mit.edu	37	chr19	16035644	16035644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaggctgatgtgttcaaAcatgtccagtctggcgctgc	8	11	12	10	1	2	2	1	2	1	0	3	2	3	2	1	2	2	3	1	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16035644A>G	ENST00000326742.7	-	5	575	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	CYP4F11_ENST00000248041.7_Missense_Mutation_p.F192L|CYP4F11_ENST00000402119.3_Missense_Mutation_p.F192L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	192					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATGTGTTCAAACATGTCCAGT	0.537													30	76					0	0	0	0	G	16035644	A	G	16035644	3	3	408	1	0	0	0	0	1	0	0	0	4218	43	2	5	1032	5	CYP4F11	19	16035644	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	295464	16035644	43093339	3545	81363											
HSH2D	84941	broad.mit.edu	37	chr19	16259620	16259620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctggactggtttgtgcaCacccagatgggccagctggc	6	8	15	12	1	0	1	0	0	0	1	0	2	0	2	2	5	2	4	2	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16259620C>T	ENST00000593154.2	+	4	591	c.60C>T	c.(58-60)caC>caT	p.H20H	HSH2D_ENST00000588246.1_Silent_p.H20H|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000253680.6_Silent_p.H20H	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	20						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GGTTTGTGCACACCCAGATGG	0.637													37	79					0	0	0	0	T	16259620	C	T	16259620	2	4	408	1	0	0	0	0	0	0	0	1	7452	477	17	4		4	HSH2D	19	16259620	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	223976	16259620	42869363	3546	81364											
EPS15L1	58513	broad.mit.edu	37	chr19	16515513	16515513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatcctgtttctgagcctcGagctcctgcaaactgcttgt	6	13	9	13	1	1	1	0	1	1	0	4	2	3	1	3	0	5	5	3	0	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16515513G>A	ENST00000602009.1	-	8	1747	c.852C>T	c.(850-852)ctC>ctT	p.L284L	EPS15L1_ENST00000535753.2_Silent_p.L438L|EPS15L1_ENST00000594975.1_Silent_p.L438L|EPS15L1_ENST00000597937.1_Silent_p.L438L|EPS15L1_ENST00000455140.2_Silent_p.L438L|EPS15L1_ENST00000248070.6_Silent_p.L438L			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	438	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCTGAGCCTCGAGCTCCTGCA	0.547													21	54					0	0	0	0	A	16515513	G	A	16515513	2	1	408	1	0	0	0	0	0	0	0	1	5231	1045	37	1		1	EPS15L1	19	16515513	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	255893	16515513	42613470	3547	81365											
EPS15L1	58513	broad.mit.edu	37	chr19	16547765	16547765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccctcacagcccagtgggCctctgcagagggcggtgtga	7	7	14	13	1	2	2	1	1	1	1	2	2	2	2	3	3	3	1	3	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16547765C>T	ENST00000597937.1	-	6	359	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	EPS15L1_ENST00000535753.2_Missense_Mutation_p.A119T|EPS15L1_ENST00000594975.1_Missense_Mutation_p.A119T|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A119T|EPS15L1_ENST00000248070.6_Missense_Mutation_p.A119T	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	119					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCCCAGTGGGCCTCTGCAGAG	0.502													12	100					0	0	0	0	T	16547765	C	T	16547765	3	4	408	1	0	0	0	0	1	0	0	0	5231	739	26	4	2311	4	EPS15L1	19	16547765	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	32252	16547765	42581218	3548	81366											
MED26	9441	broad.mit.edu	37	chr19	16687460	16687460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgaggtcggtacctcttcTtctttttactgtccgagccc	4	15	8	14	3	3	0	0	0	3	0	6	2	4	0	3	2	3	1	3	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16687460T>C	ENST00000263390.3	-	3	1443	c.1181A>G	c.(1180-1182)aAg>aGg	p.K394R	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.K402R	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	394					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GTACCTCTTCTTCTTTTTACT	0.602													3	46					0	0	0	0	C	16687460	T	C	16687460	3	2	408	1	0	0	0	0	1	0	0	0	9513	1609	56	5	625	5	MED26	19	16687460	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	139695	16687460	42441523	3549	81367											
TMEM38A	79041	broad.mit.edu	37	chr19	16791318	16791318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgagtccgcaagatcgCggtgggcatccatcacgccc	7	6	14	14	5	1	1	1	0	0	1	4	2	3	1	3	3	1	2	3	3	1	0	rs139650677		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16791318C>T	ENST00000187762.2	+	3	483	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	131						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	p.A131V(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CGCAAGATCGCGGTGGGCATC	0.527													81	218					0	0	0	0	T	16791318	C	T	16791318	3	4	408	1	0	0	0	0	1	0	0	0	16253	768	27	1	402	1	TMEM38A	19	16791318	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	103858	16791318	42337665	3550	81368											
SIN3B	23309	broad.mit.edu	37	chr19	16952724	16952724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataagattaaaacccgctTcctagaccacccagaaatct	16	8	5	12	1	1	3	0	0	1	3	2	4	2	3	4	0	1	1	4	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16952724T>C	ENST00000379803.1	+	4	541	c.527T>C	c.(526-528)tTc>tCc	p.F176S	SIN3B_ENST00000248054.5_Missense_Mutation_p.F176S|SIN3B_ENST00000596802.1_Missense_Mutation_p.F176S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	176	PAH 2.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAAACCCGCTTCCTAGACCAC	0.478													4	118					0	0	0	0	C	16952724	T	C	16952724	3	2	408	1	0	0	0	0	1	0	0	0	14414	1783	62	5	541	5	SIN3B	19	16952724	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	161406	16952724	42176259	3551	81369											
SIN3B	23309	broad.mit.edu	37	chr19	16973259	16973259	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagatccggggacgggatAagccgggaaattgattatgc	12	7	15	7	3	0	2	0	1	0	1	1	6	1	5	2	4	2	0	2	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16973259A>G	ENST00000379803.1	+	9	1169	c.1155A>G	c.(1153-1155)atA>atG	p.I385M	SIN3B_ENST00000248054.5_Missense_Mutation_p.I385M	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	385	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGGACGGGATAAGCCGGGAAA	0.552													24	66					0	0	0	0	G	16973259	A	G	16973259	3	3	408	1	0	0	0	0	1	0	0	0	14414	352	13	5	1189	5	SIN3B	19	16973259	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	20535	16973259	42155724	3552	81370											
NR2F6	2063	broad.mit.edu	37	chr19	17343360	17343360	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgggtactgcgcccgcAcatactcggtgagggccacc	7	5	15	14	4	0	1	0	1	0	0	1	2	0	2	3	4	3	2	3	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17343360A>G	ENST00000291442.3	-	4	1735	c.1016T>C	c.(1015-1017)gTg>gCg	p.V339A		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	339	Important for dimerization (By similarity).|Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CTGCGCCCGCACATACTCGGT	0.697													12	34					0	0	0	0	G	17343360	A	G	17343360	3	3	408	1	0	0	0	0	1	0	0	0	10700	159	6	5	202	5	NR2F6	19	17343360	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	370101	17343360	41785623	3553	81371											
ABHD8	79575	broad.mit.edu	37	chr19	17405647	17405647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgccaggaatgtgcagaAagagacactgcccggaacgg	13	5	14	9	2	0	2	0	0	0	2	0	5	0	4	2	3	4	1	2	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17405647A>G	ENST00000247706.3	-	3	1008	c.769T>C	c.(769-771)Ttc>Ctc	p.F257L	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	257							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AATGTGCAGAAAGAGACACTG	0.527													12	44					0	0	0	0	G	17405647	A	G	17405647	3	3	408	1	0	0	0	0	1	0	0	0	87	14	1	5	562	5	ABHD8	19	17405647	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	62287	17405647	41723336	3554	81372											
ABHD8	79575	broad.mit.edu	37	chr19	17412082	17412082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctccacctccagggcgGccggcggctccccagagcca	6	3	12	20	3	0	1	0	0	0	1	3	1	3	1	8	4	2	2	8	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17412082G>A	ENST00000247706.3	-	2	583	c.344C>T	c.(343-345)gCc>gTc	p.A115V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	115							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTCCAGGGCGGCCGGCGGCTC	0.726													12	47					0	0	0	0	A	17412082	G	A	17412082	3	1	408	1	0	0	0	0	1	0	0	0	87	1203	42	4	991	4	ABHD8	19	17412082	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6435	17412082	41716901	3555	81373											
UNC13A	23025	broad.mit.edu	37	chr19	17740047	17740047	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggggccccctcaggtcAccactttctccttctccttg	4	12	8	17	0	5	0	3	0	2	0	7	0	5	0	5	3	0	0	5	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17740047A>G	ENST00000428389.2	-	32	4017		c.e32+1		UNC13A_ENST00000519716.2_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCCTCAGGTCACCACTTTCTC	0.572													5	22					0	0	0	0	G	17740047	A	G	17740047	5	3	408	1	0	0	0	0	0	0	1	0	17080	173	6	5	1408	5	UNC13A	19	17740047	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	327965	17740047	41388936	3556	81374											
UNC13A	23025	broad.mit.edu	37	chr19	17758091	17758091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccggtgatgctgatcttgGcggaccacttggacgtgccg	6	9	14	12	4	1	2	0	2	1	0	1	4	1	4	3	4	2	1	3	4	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17758091G>A	ENST00000428389.2	-	18	2290	c.2291C>T	c.(2290-2292)gCc>gTc	p.A764V	UNC13A_ENST00000519716.2_Missense_Mutation_p.A676V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A676V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A676V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A674V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A676V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	676	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTGATCTTGGCGGACCACTT	0.647													6	9					0	0	0	0	A	17758091	G	A	17758091	3	1	408	1	0	0	0	0	1	0	0	0	17080	1203	42	4	3192	4	UNC13A	19	17758091	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	18044	17758091	41370892	3557	81375											
UNC13A	23025	broad.mit.edu	37	chr19	17766809	17766809	+	Frame_Shift_Del	DEL	G	G	-																															gggcctcggtgggtgccactGgggccttgtcctccttccct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17766809delG	ENST00000428389.2	-	11	1429	c.1430delC	c.(1429-1431)cafs	p.P477fs	UNC13A_ENST00000552293.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000519716.2_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000252773.7_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000551649.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000550896.1_Frame_Shift_Del_p.P389fs			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	389					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGCCACTGGGGCCTTGTC	0.662													9	18	---	---	---	---					-	17766809	G	-	17766809	7	5	408	1	0	1	0	1	0	0	0	0	17080	1348	47	0	4077	0	UNC13A	19	17766809	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	8718	17766809	41362174	3558	81376											
MAP1S	55201	broad.mit.edu	37	chr19	17835879	17835879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccggaaccttctgttggacCctgcctctcacaagctactg	7	11	8	15	1	2	0	1	0	2	0	4	2	3	2	4	2	4	2	4	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17835879C>A	ENST00000324096.4	+	4	476	c.325C>A	c.(325-327)Cct>Act	p.P109T	MAP1S_ENST00000544059.2_Missense_Mutation_p.P83T|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	109	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCTGTTGGACCCTGCCTCTCA	0.607													51	116					5.12918e-33	5.43649e-33	1	0	A	17835879	C	A	17835879	3	1	408	1	0	0	0	0	1	0	0	0	9303	623	22	4	339	4	MAP1S	19	17835879	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	69070	17835879	41293104	3559	81377											
B3GNT3	10331	broad.mit.edu	37	chr19	17922448	17922448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcaacggggatgatgaCgtctttgcacacacagacaa	12	8	11	10	2	2	3	1	2	1	1	2	4	2	4	0	2	3	2	0	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17922448C>T	ENST00000318683.6	+	3	783	c.636C>T	c.(634-636)gaC>gaT	p.D212D	B3GNT3_ENST00000595387.1_Silent_p.D212D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	212					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGGATGATGACGTCTTTGCAC	0.587													19	56					0	0	0	0	T	17922448	C	T	17922448	2	4	408	1	0	0	0	0	0	0	0	1	1262	535	19	1		1	B3GNT3	19	17922448	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	86569	17922448	41206535	3560	81378											
JAK3	3718	broad.mit.edu	37	chr19	17940942	17940942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaggcaggaggcgccGgcagcctctggccctcctcc	5	4	15	17	2	1	0	0	0	1	0	3	1	3	1	5	6	1	3	5	6	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17940942G>T	ENST00000458235.1	-	23	3281	c.3182C>A	c.(3181-3183)cCg>cAg	p.P1061Q	JAK3_ENST00000527670.1_Missense_Mutation_p.P1061Q|JAK3_ENST00000534444.1_Missense_Mutation_p.P1061Q	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1061	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGAGGCGCCGGCAGCCTCTG	0.682		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								4	11					0.000602214	0.000609374	1	0	T	17940942	G	T	17940942	3	4	408	1	0	0	0	0	1	0	0	0	7992	1116	39	3	200	3	JAK3	19	17940942	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	18494	17940942	41188041	3561	81379											
SLC5A5	6528	broad.mit.edu	37	chr19	17994513	17994513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttcaccgtcatgggagtCatcagcggccccctgctggg	5	9	12	15	2	4	0	4	0	0	0	5	1	5	1	4	3	2	1	4	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17994513C>T	ENST00000222248.3	+	11	1613	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	422					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCATGGGAGTCATCAGCGGCC	0.682													35	120					0	0	0	0	T	17994513	C	T	17994513	2	4	408	1	0	0	0	0	0	0	0	1	14756	813	29	2		2	SLC5A5	19	17994513	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	53571	17994513	41134470	3562	81380											
PIK3R2	5296	broad.mit.edu	37	chr19	18271310	18271310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccgacttgcccgagcagTtctccccacctgatgtggct	5	10	9	17	2	1	1	0	1	1	0	3	3	2	1	6	1	2	3	6	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:18271310T>C	ENST00000593731.1	+	3	912	c.352T>C	c.(352-354)Ttc>Ctc	p.F118L	PIK3R2_ENST00000222254.7_Missense_Mutation_p.F118L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	118	Rho-GAP.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GCCCGAGCAGTTCTCCCCACC	0.612													18	51					0	0	0	0	C	18271310	T	C	18271310	3	2	408	1	0	0	0	0	1	0	0	0	11991	1725	60	5	358	5	PIK3R2	19	18271310	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	276797	18271310	40857673	3563	81381											
PIK3R2	5296	broad.mit.edu	37	chr19	18279334	18279334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaaatcaacgagtggctgGggattaaaaatgagactgag	17	7	13	4	1	1	3	1	2	0	2	1	6	1	4	0	3	1	1	0	3	6	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:18279334G>T	ENST00000593731.1	+	14	2346	c.1786G>T	c.(1786-1788)Ggg>Tgg	p.G596W	PIK3R2_ENST00000222254.7_Missense_Mutation_p.G596W			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	596					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						cgagtggctggggattaaaaa	0.572											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24					5.18039e-06	5.29904e-06	1	0	T	18279334	G	T	18279334	3	4	408	1	0	0	0	0	1	0	0	0	11991	1232	43	4	1836	4	PIK3R2	19	18279334	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	8024	18279334	40849649	3564	81382											
UBA52	7311	broad.mit.edu	37	chr19	18685871	18685871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgtctctgtgcaggtgcTatgctcgccttcaccctcgt	3	14	9	15	2	2	0	1	0	1	0	6	0	3	0	3	1	3	3	3	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:18685871T>C	ENST00000442744.2	+	5	356	c.298T>C	c.(298-300)Tat>Cat	p.Y100H	UBA52_ENST00000430157.2_Missense_Mutation_p.Y100H|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595683.1_Missense_Mutation_p.Y100H|UBA52_ENST00000599551.1_Missense_Mutation_p.Y100H|UBA52_ENST00000596273.1_Missense_Mutation_p.Y100H|UBA52_ENST00000599595.1_Missense_Mutation_p.Y100H|UBA52_ENST00000595158.1_Missense_Mutation_p.Y100H|UBA52_ENST00000598780.1_Missense_Mutation_p.Y100H|UBA52_ENST00000597451.1_Missense_Mutation_p.Y100H|UBA52_ENST00000596304.1_Missense_Mutation_p.Y100H	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	100					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						GTGCAGGTGCTATGCTCGCCT	0.582													12	114					0	0	0	0	C	18685871	T	C	18685871	3	2	408	1	0	0	0	0	1	0	0	0	16927	1522	53	5	312	5	UBA52	19	18685871	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	406537	18685871	40443112	3565	81383											
CRLF1	9244	broad.mit.edu	37	chr19	18710432	18710432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgggcgtggcacacgaGgttgtcccccgaccgctgcc	5	6	14	16	5	1	0	1	0	0	0	2	2	2	0	4	3	1	3	4	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:18710432G>A	ENST00000392386.3	-	2	533	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	114	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGGCACACGAGGTTGTCCCCC	0.672													14	44					0	0	0	0	A	18710432	G	A	18710432	3	1	408	1	0	0	0	0	1	0	0	0	3916	1000	35	4	960	4	CRLF1	19	18710432	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	24561	18710432	40418551	3566	81384											
SLC25A42	284439	broad.mit.edu	37	chr19	19221656	19221656	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaccttcgacctcatgCagatcctgctgcggcacctg	7	9	8	17	2	2	1	2	0	0	1	4	2	3	1	5	1	3	3	5	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19221656C>T	ENST00000318596.7	+	8	1079	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	310					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CGACCTCATGCAGATCCTGCT	0.637													21	81					0	0	0	0	T	19221656	C	T	19221656	4	4	408	1	0	0	0	0	0	1	0	0	14595	711	25	4	954	4	SLC25A42	19	19221656	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	511224	19221656	39907327	3567	81385											
CILP2	148113	broad.mit.edu	37	chr19	19651094	19651094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctggctgccatccgctTctactacgggccagcgcgcg	5	7	13	16	5	1	0	0	0	1	0	2	1	2	0	4	2	5	2	4	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19651094T>C	ENST00000586018.1	+	3	365	c.263T>C	c.(262-264)tTc>tCc	p.F88S	CILP2_ENST00000291495.4_Missense_Mutation_p.F82S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	82						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCCATCCGCTTCTACTACGGG	0.731													6	19					0	0	0	0	C	19651094	T	C	19651094	3	2	408	1	0	0	0	0	1	0	0	0	3459	1783	62	5	255	5	CILP2	19	19651094	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	429438	19651094	39477889	3568	81386											
PBX4	80714	broad.mit.edu	37	chr19	19681579	19681579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccctcagccagcagcatgTtatccagcctcaggagctgg	8	7	11	15	1	2	0	2	0	0	0	3	1	3	1	4	2	5	4	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19681579T>C	ENST00000251203.8	-	3	543	c.257A>G	c.(256-258)aAc>aGc	p.N86S		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	86							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CAGCAGCATGTTATCCAGCCT	0.577													4	94					0	0	0	0	C	19681579	T	C	19681579	3	2	408	1	0	0	0	0	1	0	0	0	11566	1725	60	5	891	5	PBX4	19	19681579	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	30485	19681579	39447404	3569	81387											
GMIP	51291	broad.mit.edu	37	chr19	19744652	19744652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctccagggtactgTggtgctgggggtctgggccg	3	10	19	9	1	1	0	0	0	1	0	2	1	2	0	2	5	4	4	2	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19744652T>C	ENST00000203556.4	-	19	2569	c.2432A>G	c.(2431-2433)cAc>cGc	p.H811R	GMIP_ENST00000587238.1_Missense_Mutation_p.H785R|GMIP_ENST00000445806.2_Missense_Mutation_p.H782R	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	811	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGGGTACTGtggtgctgggg	0.637													12	28					0	0	0	0	C	19744652	T	C	19744652	3	2	408	1	0	0	0	0	1	0	0	0	6542	1696	59	5	492	5	GMIP	19	19744652	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	63073	19744652	39384331	3570	81388											
GMIP	51291	broad.mit.edu	37	chr19	19744755	19744755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggttgtgaggggcccagGggctgggctggagtcttggg	3	9	22	7	0	1	1	0	1	1	0	1	2	1	2	1	8	0	4	1	8	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19744755G>T	ENST00000203556.4	-	19	2466	c.2329C>A	c.(2329-2331)Cct>Act	p.P777T	GMIP_ENST00000587238.1_Missense_Mutation_p.P751T|GMIP_ENST00000445806.2_Missense_Mutation_p.P748T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	777	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						aggggcccaggggctgggctg	0.672													9	18					3.86212e-05	3.93362e-05	1	0	T	19744755	G	T	19744755	3	4	408	1	0	0	0	0	1	0	0	0	6542	1232	43	4	595	4	GMIP	19	19744755	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	103	19744755	39384228	3571	81389											
GMIP	51291	broad.mit.edu	37	chr19	19751335	19751335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatattccagggctgcgTccacacccccctttgtccga	6	10	9	16	2	0	0	0	0	0	0	3	1	3	0	6	2	1	2	6	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19751335T>C	ENST00000203556.4	-	5	421	c.284A>G	c.(283-285)gAc>gGc	p.D95G	GMIP_ENST00000587238.1_Missense_Mutation_p.D95G|GMIP_ENST00000445806.2_Missense_Mutation_p.D95G	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	95					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGGGCTGCGTCCACACCCCC	0.572													31	77					0	0	0	0	C	19751335	T	C	19751335	3	2	408	1	0	0	0	0	1	0	0	0	6542	1667	58	5	2696	5	GMIP	19	19751335	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	6580	19751335	39377648	3572	81390											
ZNF254	9534	broad.mit.edu	37	chr19	24310632	24310633	+	Frame_Shift_Ins	INS	-	-	T																															gtgaagaatgtggcaaagcaINStttttctggtcctcaaccct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:24310632_24310633insT	ENST00000357002.4	+	4	1945_1946	c.1830_1831insT	c.(1828-1833)gcttttfs	p.AF610fs	ZNF254_ENST00000342944.6_Frame_Shift_Ins_p.AF525fs	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	610					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GTGGCAAAGCATTTTTCTGGTC	0.376													18	82	---	---	---	---					T	24310633	-	T	24310632	7	5	408	1	0	1	1	0	0	0	0	0	17893	204	8	0	1844	0	ZNF254	19	24310632	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	4559297	24310632	34818351	3573	81391											
PLEKHF1	79156	broad.mit.edu	37	chr19	30164827	30164827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcggggcctcggggcaGccgctggcgctgccaggccg	2	6	18	15	5	0	0	0	0	0	0	2	0	0	0	4	6	3	4	4	6	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:30164827G>A	ENST00000436066.3	+	2	547	c.81G>A	c.(79-81)caG>caA	p.Q27Q	PLEKHF1_ENST00000592810.1_Silent_p.Q27Q	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	27					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CCTCGGGGCAGCCGCTGGCGC	0.657													17	81					0	0	0	0	A	30164827	G	A	30164827	2	1	408	1	0	0	0	0	0	0	0	1	12138	962	34	4		4	PLEKHF1	19	30164827	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5854195	30164827	28964156	3574	81392											
TSHZ3	57616	broad.mit.edu	37	chr19	31770175	31770175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgacacctgctgcagcGtcttagccatggcgctctgg	5	11	12	13	2	3	1	0	1	3	0	3	1	3	1	2	2	4	3	2	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:31770175G>A	ENST00000240587.4	-	2	851	c.524C>T	c.(523-525)aCg>aTg	p.T175M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	175					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGCTGCAGCGTCTTAGCCAT	0.627													16	33					0	0	0	0	A	31770175	G	A	31770175	3	1	408	1	0	0	0	0	1	0	0	0	16720	1145	40	1	2725	1	TSHZ3	19	31770175	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1605348	31770175	27358808	3575	81393											
ZNF507	22847	broad.mit.edu	37	chr19	32843909	32843909	+	Frame_Shift_Del	DEL	A	A	-																															aagcaagatagtggaaaatgAaaagtcacaaaaatgtcttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:32843909delA	ENST00000311921.3	+	2	365	c.173delA	c.(172-174)gafs	p.E58fs	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Frame_Shift_Del_p.E58fs|ZNF507_ENST00000544431.1_Frame_Shift_Del_p.E58fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GTGGAAAATGAAAAGTCACAA	0.368													15	52	---	---	---	---					-	32843909	A	-	32843909	7	5	408	1	0	1	0	1	0	0	0	0	18048	246	9	0	175	0	ZNF507	19	32843909	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	1073734	32843909	26285074	3576	81394											
GPATCH1	55094	broad.mit.edu	37	chr19	33604771	33604771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgcccaccactcaagCatcaagtgaaaaagtatcac	14	9	5	13	0	3	1	3	1	0	0	4	1	4	1	3	0	2	2	3	0	5	3	rs139888183		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:33604771C>T	ENST00000170564.2	+	14	2305	c.1991C>T	c.(1990-1992)gCa>gTa	p.A664V		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	664						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ACCACTCAAGCATCAAGTGAA	0.527													9	43					0	0	0	0	T	33604771	C	T	33604771	3	4	408	1	0	0	0	0	1	0	0	0	6639	710	25	4	2045	4	GPATCH1	19	33604771	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	760862	33604771	25524212	3577	81395											
LRP3	4037	broad.mit.edu	37	chr19	33697065	33697065	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccggcaccttccactgcggTaccaacctgtgcatcttcga	7	9	8	17	3	1	0	0	0	1	0	3	1	2	0	5	2	4	3	5	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:33697065T>C	ENST00000253193.7	+	5	1591	c.1389T>C	c.(1387-1389)ggT>ggC	p.G463G		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	463	LDL-receptor class A 4.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCCACTGCGGTACCAACCTGT	0.657													7	21					0	0	0	0	C	33697065	T	C	33697065	2	2	408	1	0	0	0	0	0	0	0	1	9022	1625	57	5		5	LRP3	19	33697065	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	92294	33697065	25431918	3578	81396											
LSM14A	26065	broad.mit.edu	37	chr19	34687588	34687588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagtccatgggttcttatgGacctttcggcaggatgccca	7	11	11	12	1	1	0	0	0	1	0	3	2	2	2	4	4	1	2	4	4	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:34687588G>A	ENST00000544216.3	+	3	412	c.335G>A	c.(334-336)gGa>gAa	p.G112E	LSM14A_ENST00000433627.5_Missense_Mutation_p.G112E|LSM14A_ENST00000540746.2_Missense_Mutation_p.G112E	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	112					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GGTTCTTATGGACCTTTCGGC	0.433													47	126					0	0	0	0	A	34687588	G	A	34687588	3	1	408	1	0	0	0	0	1	0	0	0	9118	1174	41	2	345	2	LSM14A	19	34687588	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	990523	34687588	24441395	3579	81397											
ZNF302	55900	broad.mit.edu	37	chr19	35175530	35175530	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccttccccagacttgtaaTagagagaaaatctatacatg	15	10	6	10	0	1	3	0	0	1	3	2	4	2	3	3	0	1	1	3	0	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35175530T>C	ENST00000505242.1	+	5	1082	c.588T>C	c.(586-588)aaT>aaC	p.N196N	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.N196N|ZNF302_ENST00000457781.2_Silent_p.N196N|ZNF302_ENST00000446502.2_Silent_p.N240N			Q9NR11	ZN302_HUMAN	zinc finger protein 302	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGACTTGTAATAGAGAGAAAA	0.413													4	227					0	0	0	0	C	35175530	T	C	35175530	2	2	408	1	0	0	0	0	0	0	0	1	17927	1403	49	5		5	ZNF302	19	35175530	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	487942	35175530	23953453	3580	81398											
ZNF792	126375	broad.mit.edu	37	chr19	35449854	35449854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttcctctattgtgaactTtctggtgttgagtgaggtca	6	18	11	6	0	3	3	1	3	2	0	4	3	4	3	1	2	1	2	1	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35449854T>C	ENST00000404801.1	-	4	1291	c.905A>G	c.(904-906)aAa>aGa	p.K302R	ZNF792_ENST00000605484.1_Missense_Mutation_p.K235R	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ATTGTGAACTTTCTGGTGTTG	0.468													4	39					0	0	0	0	C	35449854	T	C	35449854	3	2	408	1	0	0	0	0	1	0	0	0	18257	1841	64	5	997	5	ZNF792	19	35449854	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	274324	35449854	23679129	3581	81399											
ZNF792	126375	broad.mit.edu	37	chr19	35450469	35450470	+	Frame_Shift_Ins	INS	-	-	A																															cttgccctctgttccatggcINSaaaaatctgaaagcagagaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35450469_35450470insA	ENST00000404801.1	-	4	675_676	c.289_290insT	c.(289-291)ccafs	p.P97fs	ZNF792_ENST00000605484.1_Frame_Shift_Ins_p.P30fs	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTTCCATGGCAAAAATCTGAA	0.48													17	51	---	---	---	---					A	35450470	-	A	35450469	7	5	408	1	0	1	1	0	0	0	0	0	18257	710	25	0	1612	0	ZNF792	19	35450469	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	615	35450469	23678514	3582	81400											
FAM187B	148109	broad.mit.edu	37	chr19	35719090	35719090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggctcctcaatgtagcggTaccccaggcgtttacactcg	8	9	11	13	3	1	0	1	0	0	0	3	1	2	0	3	3	3	4	3	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35719090T>C	ENST00000324675.3	-	1	542	c.494A>G	c.(493-495)tAc>tGc	p.Y165C		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	165						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AATGTAGCGGTACCCCAGGCG	0.612													37	106					0	0	0	0	C	35719090	T	C	35719090	3	2	408	1	0	0	0	0	1	0	0	0	5555	1638	57	5	623	5	FAM187B	19	35719090	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	268621	35719090	23409893	3583	81401											
MAG	4099	broad.mit.edu	37	chr19	35786521	35786521	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttgcccgcagcctccCgagggggtcactggggtgcc	3	7	15	16	2	1	0	1	0	0	0	2	1	2	0	5	4	4	2	5	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35786521C>T	ENST00000361922.4	+	4	202	c.52C>T	c.(52-54)Cga>Tga	p.R18*	MAG_ENST00000392213.3_Nonsense_Mutation_p.R18*|MAG_ENST00000597035.1_Nonsense_Mutation_p.R18*|MAG_ENST00000537831.2_5'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	18					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGCAGCCTCCCGAGGGGGTCA	0.687													37	75					0	0	0	0	T	35786521	C	T	35786521	4	4	408	1	0	0	0	0	0	1	0	0	9227	644	23	1	58	1	MAG	19	35786521	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	67431	35786521	23342462	3584	81402											
ATP4A	495	broad.mit.edu	37	chr19	36050968	36050968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcaccaccaggccctgCacggtgcctgcaggggggcc	5	6	15	15	1	1	0	1	0	0	0	1	0	1	0	5	5	3	3	5	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36050968C>T	ENST00000262623.3	-	7	823	c.795G>A	c.(793-795)gtG>gtA	p.V265V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	265			V -> A (in dbSNP:rs2733743).		ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCAGGCCCTGCACGGTGCCTG	0.657													24	58					0	0	0	0	T	36050968	C	T	36050968	2	4	408	1	0	0	0	0	0	0	0	1	1149	697	25	4		4	ATP4A	19	36050968	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	264447	36050968	23078015	3585	81403											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271695	36271695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcatcccggctccccAgggtatctcgtctctgacct	5	11	10	15	2	2	1	0	1	2	0	6	1	4	1	4	3	0	3	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36271695A>G	ENST00000007510.4	+	10	950	c.806A>G	c.(805-807)cAg>cGg	p.Q269R	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.Q269R|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.Q133R			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	269					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCGGCTCCCCAGGGTATCTCG	0.627													31	115					0	0	0	0	G	36271695	A	G	36271695	3	3	408	1	0	0	0	0	1	0	0	0	884	188	7	5	844	5	ARHGAP33	19	36271695	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	220727	36271695	22857288	3586	81404											
POLR2I	5438	broad.mit.edu	37	chr19	36604715	36604715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacgtagtaaaggcgcatgGcgtcctggcagaaatgatgc	12	7	13	9	3	0	2	0	1	0	1	1	2	1	2	1	3	1	4	1	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36604715G>C	ENST00000221859.4	-	6	809	c.320C>G	c.(319-321)gCc>gGc	p.A107G		NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa	107					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II 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|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGGCGCATGGCGTCCTGGCA	0.557											OREG0025437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					0	0	0	0	C	36604715	G	C	36604715	3	2	408	1	0	0	0	0	1	0	0	0	12294	1203	42	4	61	4	POLR2I	19	36604715	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	333020	36604715	22524268	3587	81405											
ZNF585A	199704	broad.mit.edu	37	chr19	37643959	37643959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaatcaaatgggtcttcTggatgaaggcctgtccgcat	9	11	12	9	1	3	1	1	1	2	0	4	2	4	2	2	3	1	2	2	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:37643959T>C	ENST00000356958.4	-	5	1100	c.842A>G	c.(841-843)cAg>cGg	p.Q281R	ZNF585A_ENST00000392157.2_Missense_Mutation_p.Q226R|ZNF585A_ENST00000355533.2_Missense_Mutation_p.Q226R|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Q226R			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGGGTCTTCTGGATGAAGGC	0.433													6	229					0	0	0	0	C	37643959	T	C	37643959	3	2	408	1	0	0	0	0	1	0	0	0	18112	1580	55	5	1471	5	ZNF585A	19	37643959	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1039244	37643959	21485024	3588	81406											
ZNF527	84503	broad.mit.edu	37	chr19	37871240	37871240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagggaaggaaccgtggatGgtggagagaaagatgtcaca	15	5	16	5	1	1	2	1	0	0	2	1	7	1	6	1	5	1	0	1	5	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:37871240G>T	ENST00000436120.2	+	4	329	c.222G>T	c.(220-222)atG>atT	p.M74I	ZNF527_ENST00000587349.1_Missense_Mutation_p.M74I|ZNF527_ENST00000483919.1_Missense_Mutation_p.M74I	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACCGTGGATGGTGGAGAGAA	0.478													10	45					3.86212e-05	3.93362e-05	1	0	T	37871240	G	T	37871240	3	4	408	1	0	0	0	0	1	0	0	0	18063	1348	47	4	232	4	ZNF527	19	37871240	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	227281	37871240	21257743	3589	81407											
ZNF527	84503	broad.mit.edu	37	chr19	37879903	37879903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagccacgacttctttctcAgtgaacatcaaagaactcat	13	12	5	11	1	4	2	3	1	2	1	5	3	4	2	1	0	3	0	1	0	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:37879903A>G	ENST00000436120.2	+	5	1059	c.952A>G	c.(952-954)Agt>Ggt	p.S318G	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCTTTCTCAGTGAACATCA	0.403													26	129					0	0	0	0	G	37879903	A	G	37879903	3	3	408	1	0	0	0	0	1	0	0	0	18063	188	7	5	966	5	ZNF527	19	37879903	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	8663	37879903	21249080	3590	81408											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655419	38655419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacgcagacaggcggCgggaggtctcccctgccccc	6	3	12	20	3	1	1	0	0	1	1	2	2	1	2	6	4	1	1	6	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:38655419C>T	ENST00000222345.6	+	15	4590	c.4081C>T	c.(4081-4083)Cgg>Tgg	p.R1361W		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1361					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGACAGGCGGCGGGAGGTCTC	0.721													8	32					0	0	0	0	T	38655419	C	T	38655419	3	4	408	1	0	0	0	0	1	0	0	0	14419	759	27	1	4131	1	SIPA1L3	19	38655419	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	775516	38655419	20473564	3591	81409											
DPF1	8193	broad.mit.edu	37	chr19	38713318	38713318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgtaactgcggcagtgctcGatggcctcgcggtagaagtc	7	10	14	10	4	0	1	0	0	0	1	3	2	0	1	1	3	3	4	1	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:38713318G>C	ENST00000416611.1	-	2	186	c.63C>G	c.(61-63)atC>atG	p.I21M	DPF1_ENST00000456296.1_Missense_Mutation_p.I21M|DPF1_ENST00000414789.1_De_novo_Start_InFrame|DPF1_ENST00000420980.2_Missense_Mutation_p.I47M|DPF1_ENST00000412732.1_De_novo_Start_InFrame|DPF1_ENST00000355526.4_Missense_Mutation_p.I47M			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	47					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCAGTGCTCGATGGCCTCGC	0.692													7	21					0	0	0	0	C	38713318	G	C	38713318	3	2	408	1	0	0	0	0	1	0	0	0	4752	1048	37	3	1177	3	DPF1	19	38713318	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	57899	38713318	20415665	3592	81410											
CATSPERG	57828	broad.mit.edu	37	chr19	38853038	38853038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactacttcttcttggcgaGcaattggcgaagcgcgggcg	7	11	13	10	5	2	0	0	0	2	0	2	2	2	0	0	3	4	1	0	3	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:38853038G>A	ENST00000409235.3	+	19	2295	c.2180G>A	c.(2179-2181)aGc>aAc	p.S727N	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S687N|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	727					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTCTTGGCGAGCAATTGGCGA	0.632													6	194					0	0	0	0	A	38853038	G	A	38853038	3	1	408	1	0	0	0	0	1	0	0	0	2717	971	34	4	2250	4	CATSPERG	19	38853038	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	139720	38853038	20275945	3593	81411											
RYR1	6261	broad.mit.edu	37	chr19	38976427	38976427	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccactgcgcgcaggctactAtgacctcctcatcagcatcc	8	8	7	18	2	2	1	2	1	0	0	4	1	4	1	4	1	3	3	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:38976427A>G	ENST00000355481.4	+	34	5263	c.5132A>G	c.(5131-5133)tAt>tGt	p.Y1711C	RYR1_ENST00000360985.3_Missense_Mutation_p.Y1711C|RYR1_ENST00000359596.3_Missense_Mutation_p.Y1711C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1711	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGGCTACTATGACCTCCTC	0.652													5	137					0	0	0	0	G	38976427	A	G	38976427	3	3	408	1	0	0	0	0	1	0	0	0	13853	449	16	5	5266	5	RYR1	19	38976427	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	123389	38976427	20152556	3594	81412											
RYR1	6261	broad.mit.edu	37	chr19	39025414	39025415	+	Frame_Shift_Ins	INS	-	-	G																															gcaagcacggctgcacacccINSggggggcggccgagatggtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:39025414_39025415insG	ENST00000355481.4	+	78	11430_11431	c.11299_11300insG	c.(11299-11301)gggfs	p.G3767fs	RYR1_ENST00000359596.3_Frame_Shift_Ins_p.G3772fs|RYR1_ENST00000360985.3_Frame_Shift_Ins_p.G3772fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3772					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGCACACCCGGGGGGCGGCC	0.589													21	44	---	---	---	---					G	39025415	-	G	39025414	7	5	408	1	0	1	1	0	0	0	0	0	13853	643	23	0	11628	0	RYR1	19	39025414	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	48987	39025414	20103569	3595	81413											
MAP4K1	11184	broad.mit.edu	37	chr19	39087709	39087709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttcatgggctggtaccActgaagcaggacaacggacg	10	9	13	9	2	1	1	1	1	0	0	1	3	1	3	1	4	3	4	1	4	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:39087709A>G	ENST00000591517.1	-	25	1934	c.1906T>C	c.(1906-1908)Tgg>Cgg	p.W636R	MAP4K1_ENST00000589130.1_Missense_Mutation_p.W632R|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.W636R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	636	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCTGGTACCACTGAAGCAGG	0.597													37	105					0	0	0	0	G	39087709	A	G	39087709	3	3	408	1	0	0	0	0	1	0	0	0	9328	159	6	5	689	5	MAP4K1	19	39087709	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	62295	39087709	20041274	3596	81414											
CLC	1178	broad.mit.edu	37	chr19	40225074	40225074	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacttggaaatggaagAcaatgtctgattcctccttc	12	11	8	10	0	1	2	0	1	1	1	4	4	3	4	2	2	1	1	2	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40225074A>T	ENST00000221804.4	-	3	227	c.152T>A	c.(151-153)gTc>gAc	p.V51D		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	51	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GAAATGGAAGACAATGTCTGA	0.502													47	169					0	0	0	0	T	40225074	A	T	40225074	3	4	408	1	0	0	0	0	1	0	0	0	3486	275	10	5	284	5	CLC	19	40225074	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1137365	40225074	18903909	3597	81415											
FCGBP	8857	broad.mit.edu	37	chr19	40366395	40366395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcctggttgtagttcccGcataagccacagagagaggc	9	8	14	10	1	0	2	0	0	0	2	2	3	2	2	3	3	1	4	3	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40366395G>A	ENST00000221347.6	-	30	13846	c.13839C>T	c.(13837-13839)tgC>tgT	p.C4613C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4613	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTAGTTCCCGCATAAGCCAC	0.677													41	114					0	0	0	0	A	40366395	G	A	40366395	2	1	408	1	0	0	0	0	0	0	0	1	5823	1079	38	1		1	FCGBP	19	40366395	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	141321	40366395	18762588	3598	81416											
FCGBP	8857	broad.mit.edu	37	chr19	40392046	40392046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacattgctggatgggcacGcaggcttggccgttgtagag	7	9	15	10	2	0	1	0	0	0	1	0	2	0	2	2	4	1	6	2	4	1	4	rs147841331		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40392046G>A	ENST00000221347.6	-	17	8347	c.8340C>T	c.(8338-8340)tgC>tgT	p.C2780C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2780	Cys-rich.|TIL 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATGGGCACGCAGGCTTGGC	0.612													15	46					0	0	0	0	A	40392046	G	A	40392046	2	1	408	1	0	0	0	0	0	0	0	1	5823	1079	38	1		1	FCGBP	19	40392046	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	25651	40392046	18736937	3599	81417											
ZNF780B	163131	broad.mit.edu	37	chr19	40540844	40540844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccacattctttacatttaAatggcttctcacctgtgtga	9	16	5	11	0	2	1	1	1	2	0	4	1	3	1	2	1	1	1	2	1	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40540844A>G	ENST00000434248.1	-	5	1987	c.1922T>C	c.(1921-1923)tTt>tCt	p.F641S	ZNF780B_ENST00000221355.6_Missense_Mutation_p.F493S	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTACATTTAAATGGCTTCTC	0.408													5	200					0	0	0	0	G	40540844	A	G	40540844	3	3	408	1	0	0	0	0	1	0	0	0	18246	14	1	5	583	5	ZNF780B	19	40540844	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	148798	40540844	18588139	3600	81418											
SERTAD3	29946	broad.mit.edu	37	chr19	40947495	40947495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggctctggtggggcccGtgcaggctccttttctaccg	4	10	15	12	2	2	0	0	0	2	0	3	1	3	1	3	6	2	3	3	6	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40947495G>A	ENST00000322354.3	-	2	989	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	SERTAD3_ENST00000392028.4_Missense_Mutation_p.R165W	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	165					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGTGGGGCCCGTGCAGGCTCC	0.527													60	142					0	0	0	0	A	40947495	G	A	40947495	3	1	408	1	0	0	0	0	1	0	0	0	14209	1144	40	1	101	1	SERTAD3	19	40947495	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	406651	40947495	18181488	3601	81419											
BLVRB	645	broad.mit.edu	37	chr19	40953925	40953925	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtccatccagggtcacTgtgtacgccccagttagtgg	6	10	11	14	2	1	0	1	0	0	0	4	0	3	0	5	2	1	2	5	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40953925T>C	ENST00000263368.4	-	5	643	c.492A>G	c.(490-492)acA>acG	p.T164T	BLVRB_ENST00000595483.1_Silent_p.T121T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	164					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	CCAGGGTCACTGTGTACGCCC	0.552													21	59					0	0	0	0	C	40953925	T	C	40953925	2	2	408	1	0	0	0	0	0	0	0	1	1457	1567	55	5		5	BLVRB	19	40953925	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	6430	40953925	18175058	3602	81420											
SHKBP1	92799	broad.mit.edu	37	chr19	41089339	41089339	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatcaccagttatgacgcGgcaggctccttcctcctcct	6	10	7	18	2	1	1	1	1	0	0	5	1	5	1	6	2	0	3	6	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41089339G>T	ENST00000291842.5	+	11	1045	c.996G>T	c.(994-996)gcG>gcT	p.A332A	SHKBP1_ENST00000600733.1_Silent_p.A307A	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	332						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTTATGACGCGGCAGGCTCCT	0.652													6	11					3.59834e-05	3.66827e-05	1	0	T	41089339	G	T	41089339	2	4	408	1	0	0	0	0	0	0	0	1	14372	1103	39	3		3	SHKBP1	19	41089339	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	135414	41089339	18039644	3603	81421											
LTBP4	8425	broad.mit.edu	37	chr19	41119873	41119873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagagcggcatctgtaccaAcaccgacggctccttcgagt	9	7	10	15	4	1	1	0	0	1	1	3	3	2	1	4	2	3	3	4	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41119873A>G	ENST00000308370.7	+	21	2810	c.2810A>G	c.(2809-2811)aAc>aGc	p.N937S	LTBP4_ENST00000396819.3_Missense_Mutation_p.N870S|LTBP4_ENST00000204005.9_Missense_Mutation_p.N900S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.N390S|LTBP4_ENST00000243562.9_Missense_Mutation_p.N35S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	937	Cys-rich.|EGF-like 11; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCTGTACCAACACCGACGGC	0.697													8	53					0	0	0	0	G	41119873	A	G	41119873	3	3	408	1	0	0	0	0	1	0	0	0	9140	43	2	5	3185	5	LTBP4	19	41119873	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	30534	41119873	18009110	3604	81422											
LTBP4	8425	broad.mit.edu	37	chr19	41122815	41122815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtggatgagtgccaagaaTatggtcccgagatttgtgga	11	11	14	5	1	0	3	0	1	0	2	1	6	1	5	2	3	1	0	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41122815T>A	ENST00000308370.7	+	23	3034	c.3034T>A	c.(3034-3036)Tat>Aat	p.Y1012N	LTBP4_ENST00000396819.3_Missense_Mutation_p.Y945N|LTBP4_ENST00000204005.9_Missense_Mutation_p.Y975N|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000243562.9_Intron	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1012	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGCCAAGAATATGGTCCCGA	0.567													18	36					0	0	0	0	A	41122815	T	A	41122815	3	1	408	1	0	0	0	0	1	0	0	0	9140	1406	49	5	3417	5	LTBP4	19	41122815	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2942	41122815	18006168	3605	81423											
LTBP4	8425	broad.mit.edu	37	chr19	41135437	41135437	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcaccactgtgcgccCgcacggccccgggcctgagc	5	3	13	20	5	0	1	0	1	0	0	0	1	0	1	6	2	3	2	6	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41135437C>A	ENST00000308370.7	+	34	4854	c.4854C>A	c.(4852-4854)ccC>ccA	p.P1618P	LTBP4_ENST00000396819.3_Silent_p.P1551P|LTBP4_ENST00000204005.9_Silent_p.P1581P|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1619	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGTGCGCCCGCACGGCCCC	0.736													6	25					0.00198382	0.00200201	1	0	A	41135437	C	A	41135437	2	1	408	1	0	0	0	0	0	0	0	1	9140	639	23	3		3	LTBP4	19	41135437	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	12622	41135437	17993546	3606	81424											
EGLN2	112398	broad.mit.edu	37	chr19	41307039	41307039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatcgtgccctgcatgcggTactacggcatctgcgtcaag	8	10	11	12	4	2	0	1	0	1	0	3	0	2	0	1	2	6	3	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41307039T>C	ENST00000593726.1	+	1	1590	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	EGLN2_ENST00000303961.4_Missense_Mutation_p.Y188H|EGLN2_ENST00000406058.2_Missense_Mutation_p.Y188H|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	188					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CTGCATGCGGTACTACGGCAT	0.687													57	216					0	0	0	0	C	41307039	T	C	41307039	3	2	408	1	0	0	0	0	1	0	0	0	5005	1638	57	5	564	5	EGLN2	19	41307039	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	171602	41307039	17821944	3607	81425											
EGLN2	112398	broad.mit.edu	37	chr19	41312467	41312467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctgccaggccatggTggcgtgttacccaggcaacg	7	7	12	15	2	0	0	0	0	0	0	1	0	1	0	5	4	3	2	5	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41312467T>C	ENST00000593726.1	+	2	1879	c.851T>C	c.(850-852)gTg>gCg	p.V284A	EGLN2_ENST00000303961.4_Missense_Mutation_p.V284A|EGLN2_ENST00000594140.1_Missense_Mutation_p.V2A|EGLN2_ENST00000406058.2_Missense_Mutation_p.V284A|CTC-490E21.12_ENST00000601627.1_Intron|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	284	Fe2OG dioxygenase.				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CAGGCCATGGTGGCGTGTTAC	0.557											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	132					0	0	0	0	C	41312467	T	C	41312467	3	2	408	1	0	0	0	0	1	0	0	0	5005	1696	59	5	857	5	EGLN2	19	41312467	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5428	41312467	17816516	3608	81426											
CYP2A13	1553	broad.mit.edu	37	chr19	41594902	41594902	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcgtggtgctgtgcggAcatgatgccgtcaaggaggc	6	8	18	9	4	1	1	1	1	0	0	2	3	1	3	1	5	3	1	1	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41594902A>G	ENST00000330436.3	+	2	249	c.249A>G	c.(247-249)ggA>ggG	p.G83G		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	83					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TGCTGTGCGGACATGATGCCG	0.622													11	100					0	0	0	0	G	41594902	A	G	41594902	2	3	408	1	0	0	0	0	0	0	0	1	4193	262	10	5		5	CYP2A13	19	41594902	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	282435	41594902	17534081	3609	81427											
CYP2A13	1553	broad.mit.edu	37	chr19	41596072	41596072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaggaggaggcgggctTcctcatcgacgccctccggg	6	6	14	15	4	1	0	1	0	0	0	5	3	4	2	4	5	0	1	4	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41596072T>C	ENST00000330436.3	+	3	464	c.464T>C	c.(463-465)tTc>tCc	p.F155S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	155					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GAGGCGGGCTTCCTCATCGAC	0.692													19	47					0	0	0	0	C	41596072	T	C	41596072	3	2	408	1	0	0	0	0	1	0	0	0	4193	1783	62	5	474	5	CYP2A13	19	41596072	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1170	41596072	17532911	3610	81428											
CYP2A13	1553	broad.mit.edu	37	chr19	41597687	41597687	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctgccaggaccacagcaAcaggcctttaaggagctgca	12	5	10	14	0	0	0	0	0	0	0	0	2	0	2	4	3	5	3	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41597687A>G	ENST00000330436.3	+	5	705	c.705A>G	c.(703-705)caA>caG	p.Q235Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	235					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GACCACAGCAACAGGCCTTTA	0.572													4	89					0	0	0	0	G	41597687	A	G	41597687	2	3	408	1	0	0	0	0	0	0	0	1	4193	40	2	5		5	CYP2A13	19	41597687	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1615	41597687	17531296	3611	81429											
AXL	558	broad.mit.edu	37	chr19	41745209	41745209	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagtacccctggaggcCtggcgcccaggtaagtccaa	8	6	11	16	1	0	0	0	0	0	0	2	1	2	1	6	4	1	2	6	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41745209C>A	ENST00000301178.4	+	9	1465	c.1275C>A	c.(1273-1275)gcC>gcA	p.A425A	AXL_ENST00000359092.3_Silent_p.A425A|AXL_ENST00000593513.1_Silent_p.A157A	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	425	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCCTGGAGGCCTGGCGCCCAG	0.597													24	94					1.55469e-16	1.63288e-16	1	0	A	41745209	C	A	41745209	2	1	408	1	0	0	0	0	0	0	0	1	1242	668	24	4		4	AXL	19	41745209	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	147522	41745209	17383774	3612	81430											
CCDC97	90324	broad.mit.edu	37	chr19	41828524	41828524	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagacgacaaccccgacttCgacaacctcgacatcgtggc	11	6	9	15	5	0	1	0	0	0	1	3	5	0	1	3	1	2	1	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41828524C>T	ENST00000269967.3	+	5	1058	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	312										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCCCGACTTCGACAACCTCG	0.617													55	122					0	0	0	0	T	41828524	C	T	41828524	2	4	408	1	0	0	0	0	0	0	0	1	2902	883	31	1		1	CCDC97	19	41828524	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	83315	41828524	17300459	3613	81431											
B3GNT8	374907	broad.mit.edu	37	chr19	41931841	41931841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggcttccggagaggCatggcctgggtaaagacctc	7	8	13	13	1	0	2	0	0	0	2	3	3	2	2	5	5	0	3	5	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41931841C>A	ENST00000321702.2	-	3	1296	c.843G>T	c.(841-843)atG>atT	p.M281I	CTC-435M10.6_ENST00000598887.1_RNA	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	281					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						TCCGGAGAGGCATGGCCTGGG	0.642													15	52					1.3612e-06	1.39554e-06	1	0	A	41931841	C	A	41931841	3	1	408	1	0	0	0	0	1	0	0	0	1267	710	25	4	354	4	B3GNT8	19	41931841	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	103317	41931841	17197142	3614	81432											
CEACAM5	1048	broad.mit.edu	37	chr19	42221417	42221417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcaacaactccaacccCgtggaggatgaggatgctgt	12	6	11	12	1	0	1	0	1	0	0	1	4	1	4	4	3	5	2	4	3	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42221417C>T	ENST00000221992.6	+	5	1116	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.P333P|CEACAM5_ENST00000405816.1_Silent_p.P334P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	334	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		p.P334P(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)		ACTCCAACCCCGTGGAGGATG	0.532													48	141					0	0	0	0	T	42221417	C	T	42221417	2	4	408	1	0	0	0	0	0	0	0	1	3224	639	23	1		1	CEACAM5	19	42221417	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	289576	42221417	16907566	3615	81433											
ATP1A3	478	broad.mit.edu	37	chr19	42492485	42492485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacctgcacacagtctgtGttgtatttccggcagacctc	8	11	8	14	1	1	1	0	0	1	1	3	1	2	1	3	1	1	4	3	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42492485G>T	ENST00000545399.1	-	3	330	c.177C>A	c.(175-177)aaC>aaA	p.N59K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.N16K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.N46K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.N57K|ATP1A3_ENST00000468774.2_5'UTR	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	46					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACAGTCTGTGTTGTATTTCC	0.617													5	294					4.096e-09	4.23106e-09	1	0	T	42492485	G	T	42492485	3	4	408	1	0	0	0	0	1	0	0	0	1134	1368	48	4	2987	4	ATP1A3	19	42492485	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	271068	42492485	16636498	3616	81434											
GRIK5	2901	broad.mit.edu	37	chr19	42510946	42510946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtaggaggagatgatgaTcaaggtgaaggcccacctga	12	7	15	7	1	1	5	1	4	0	1	1	7	1	6	2	4	0	1	2	4	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42510946T>C	ENST00000262895.3	-	15	1887	c.1888A>G	c.(1888-1890)Atc>Gtc	p.I630V	GRIK5_ENST00000301218.4_Missense_Mutation_p.I630V|GRIK5_ENST00000593562.1_Missense_Mutation_p.I630V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	630						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GAGATGATGATCAAGGTGAAG	0.652													6	39					0	0	0	0	C	42510946	T	C	42510946	3	2	408	1	0	0	0	0	1	0	0	0	6827	1435	50	5	1074	5	GRIK5	19	42510946	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	18461	42510946	16618037	3617	81435											
ZNF574	64763	broad.mit.edu	37	chr19	42583151	42583151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactacgagtgtgtggattgCaaggctctctttgccagcca	8	11	11	11	1	1	0	0	0	1	0	2	2	1	1	2	2	4	2	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42583151C>T	ENST00000600245.1	+	2	1048	c.393C>T	c.(391-393)tgC>tgT	p.C131C	ZNF574_ENST00000359044.4_Silent_p.C131C|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.C221C			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GTGTGGATTGCAAGGCTCTCT	0.632													24	81					0	0	0	0	T	42583151	C	T	42583151	2	4	408	1	0	0	0	0	0	0	0	1	18101	718	25	4		4	ZNF574	19	42583151	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	72205	42583151	16545832	3618	81436											
GSK3A	2931	broad.mit.edu	37	chr19	42744142	42744142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaaccttcttgatggCgactagttccctggtctctg	6	13	11	11	1	2	2	0	1	2	1	4	4	3	2	2	3	1	1	2	3	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42744142C>T	ENST00000398249.4	-	1	1903	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	GSK3A_ENST00000222330.3_Missense_Mutation_p.A146T|AC006486.9_ENST00000594664.1_Missense_Mutation_p.A59T			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	146	Gly-rich.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	p.A146T(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TTCTTGATGGCGACTAGTTCC	0.572													21	34					0	0	0	0	T	42744142	C	T	42744142	3	4	408	1	0	0	0	0	1	0	0	0	6873	768	27	1	1055	1	GSK3A	19	42744142	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	160991	42744142	16384841	3619	81437											
CIC	23152	broad.mit.edu	37	chr19	42794869	42794869	+	Frame_Shift_Del	DEL	C	C	-																															cggagccagagtgccctccgCccccgccccatcactggcct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42794869delC	ENST00000572681.2	+	11	4744	c.4676delC	c.(4675-4677)gcfs	p.A1559fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.A650fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.A650fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	650	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGCCCTCCGCCCCCGCCCCA	0.682			"Mis, F, S"		oligodendroglioma								13	37	---	---	---	---					-	42794869	C	-	42794869	7	5	408	1	0	1	0	1	0	0	0	0	3453	739	26	0	1987	0	CIC	19	42794869	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	50727	42794869	16334114	3620	81438											
MEGF8	1954	broad.mit.edu	37	chr19	42880472	42880472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaccaagatggccagcCgccccttcgccaaggtcacc	10	5	10	16	2	1	3	1	1	0	2	2	3	1	3	7	2	1	0	7	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42880472C>T	ENST00000334370.4	+	41	8517	c.7882C>T	c.(7882-7884)Cgc>Tgc	p.R2628C	MEGF8_ENST00000251268.6_Missense_Mutation_p.R2695C|MEGF8_ENST00000378073.4_Missense_Mutation_p.R289C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2695						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GATGGCCAGCCGCCCCTTCGC	0.682													20	41					0	0	0	0	T	42880472	C	T	42880472	3	4	408	1	0	0	0	0	1	0	0	0	9532	652	23	1	8044	1	MEGF8	19	42880472	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	85603	42880472	16248511	3621	81439											
CXCL17	284340	broad.mit.edu	37	chr19	42933037	42933037	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtgggcgctcagagctccTacaaaggcagagcaaagctt	12	6	13	10	1	1	2	1	0	0	2	2	3	2	2	1	2	4	5	1	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42933037T>C	ENST00000601181.1	-	4	574	c.359A>G	c.(358-360)tAg>tGg	p.*120W	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_198477.1	NP_940879.1	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17	0					angiogenesis|cell differentiation|chemotaxis	extracellular region				large_intestine(2)|skin(1)	3		Prostate(69;0.00899)				TCAGAGCTCCTACAAAGGCAG	0.493													86	304					0	0	0	0	C	42933037	T	C	42933037	4	2	408	1	0	0	0	0	0	0	0	0	4116	1535	53	5	4	5	CXCL17	19	42933037	Nonstop_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	52565	42933037	16195946	3622	81440											
PSG2	5670	broad.mit.edu	37	chr19	43575936	43575936	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatagagcccgctatgctTtgtagtaatttgggggataa	12	12	11	6	1	0	1	0	0	0	1	0	2	0	2	1	2	3	4	1	2	6	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:43575936T>C	ENST00000406487.1	-	4	978	c.880A>G	c.(880-882)Aag>Gag	p.K294E		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	294	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CCGCTATGCTTTGTAGTAATT	0.468													9	403					0	0	0	0	C	43575936	T	C	43575936	3	2	408	1	0	0	0	0	1	0	0	0	12734	1850	64	5	135	5	PSG2	19	43575936	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	642899	43575936	15553047	3623	81441											
PSG5	5673	broad.mit.edu	37	chr19	43690520	43690520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagccccttccaggtgAtgtgctgtgtgcagggaggg	6	8	18	9	0	0	1	0	1	0	0	1	3	1	3	3	4	3	3	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:43690520A>G	ENST00000404580.1	-	1	126	c.38T>C	c.(37-39)aTc>aCc	p.I13T	PSG5_ENST00000407356.1_Missense_Mutation_p.I13T|PSG5_ENST00000366175.3_Missense_Mutation_p.I13T|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.I13T|PSG5_ENST00000342951.6_Missense_Mutation_p.I13T|PSG5_ENST00000599812.1_Missense_Mutation_p.I13T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	13					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTTCCAGGTGATGTGCTGTGT	0.597													57	160					0	0	0	0	G	43690520	A	G	43690520	3	3	408	1	0	0	0	0	1	0	0	0	12737	333	12	5	989	5	PSG5	19	43690520	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	114584	43690520	15438463	3624	81442											
ZNF576	79177	broad.mit.edu	37	chr19	44103349	44103349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacagagtgcggtcaggActttgctcaggaagcagggc	9	7	15	10	1	2	1	2	0	0	1	2	3	2	3	0	4	4	3	0	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:44103349A>G	ENST00000336564.4	+	3	606	c.452A>G	c.(451-453)gAc>gGc	p.D151G	SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000391965.2_Missense_Mutation_p.D151G|ZNF576_ENST00000528387.1_Missense_Mutation_p.D151G|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.D151G|ZNF576_ENST00000533118.1_Missense_Mutation_p.D151G|ZNF576_ENST00000529930.1_Missense_Mutation_p.D151G	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TGCGGTCAGGACTTTGCTCAG	0.622													17	49					0	0	0	0	G	44103349	A	G	44103349	3	3	408	1	0	0	0	0	1	0	0	0	18103	275	10	5	458	5	ZNF576	19	44103349	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	412829	44103349	15025634	3625	81443											
ZNF45	7596	broad.mit.edu	37	chr19	44419190	44419190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaatcatctcgttttTccaactggcagcctgttctt	8	15	7	11	1	3	0	1	0	2	0	5	0	4	0	2	1	3	4	2	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:44419190T>C	ENST00000269973.5	-	10	1488	c.398A>G	c.(397-399)gAa>gGa	p.E133G	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.E133G	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	133					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATCTCGTTTTTCCAACTGGCA	0.403													15	58					0	0	0	0	C	44419190	T	C	44419190	3	2	408	1	0	0	0	0	1	0	0	0	18016	1783	62	5	1654	5	ZNF45	19	44419190	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	315841	44419190	14709793	3626	81444											
ZNF230	7773	broad.mit.edu	37	chr19	44513052	44513052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgcttgagaacttcacGaacctgctgtcagtgggtga	9	11	13	8	1	2	3	2	3	0	1	2	5	2	3	1	1	4	2	1	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:44513052G>A	ENST00000429154.2	+	3	354	c.126G>A	c.(124-126)acG>acA	p.T42T	ZNF230_ENST00000585632.1_Silent_p.T42T	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGAACTTCACGAACCTGCTGT	0.517													62	185					0	0	0	0	A	44513052	G	A	44513052	2	1	408	1	0	0	0	0	0	0	0	1	17879	1045	37	1		1	ZNF230	19	44513052	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	93862	44513052	14615931	3627	81445											
ZNF285	26974	broad.mit.edu	37	chr19	44891802	44891802	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgggatgtctaccagggTcctctcctttacattcttgg	6	15	10	10	0	3	0	0	0	3	0	5	1	4	1	3	3	2	1	3	3	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:44891802T>C	ENST00000330997.4	-	4	669	c.605A>G	c.(604-606)gAc>gGc	p.D202G	ZNF285_ENST00000591679.1_Missense_Mutation_p.D209G|ZNF285_ENST00000544719.2_Missense_Mutation_p.D202G|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCTACCAGGGTCCTCTCCTTT	0.443													27	95					0	0	0	0	C	44891802	T	C	44891802	3	2	408	1	0	0	0	0	1	0	0	0	17917	1667	58	5	1171	5	ZNF285	19	44891802	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	378750	44891802	14237181	3628	81446											
BCL3	602	broad.mit.edu	37	chr19	45260945	45260945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgctcatccacgccgtggaaAacaacagccttagcatggtg	11	7	10	13	3	1	0	1	0	0	0	2	1	2	1	3	2	4	2	3	2	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45260945A>G	ENST00000164227.5	+	6	1100	c.856A>G	c.(856-858)Aac>Gac	p.N286D		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	286					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CGCCGTGGAAAACAACAGCCT	0.652			T	IGH@	CLL								11	125					0	0	0	0	G	45260945	A	G	45260945	3	3	408	1	0	0	0	0	1	0	0	0	1379	14	1	5	878	5	BCL3	19	45260945	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	369143	45260945	13868038	3629	81447											
NKPD1	284353	broad.mit.edu	37	chr19	45655588	45655588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaacgccttggtcatggTgtgcagctcgcggctgttgt	4	12	14	11	3	1	0	1	0	0	0	2	0	1	0	1	3	4	5	1	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45655588T>C	ENST00000317951.4	-	4	2106	c.2107A>G	c.(2107-2109)Acc>Gcc	p.T703A	NKPD1_ENST00000438936.2_Missense_Mutation_p.T481A|NKPD1_ENST00000589776.1_Missense_Mutation_p.T481A|NKPD1_ENST00000429338.1_Intron	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TTGGTCATGGTGTGCAGCTCG	0.716													7	28					0	0	0	0	C	45655588	T	C	45655588	3	2	408	1	0	0	0	0	1	0	0	0	10516	1696	59	5	395	5	NKPD1	19	45655588	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	394643	45655588	13473395	3630	81448											
ERCC2	2068	broad.mit.edu	37	chr19	45855501	45855501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgccatctgccgcaggaagTacttggccacctggacaccc	8	7	11	15	1	1	0	0	0	1	0	1	2	1	2	5	3	3	2	5	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45855501T>C	ENST00000391945.4	-	22	2233	c.2156A>G	c.(2155-2157)tAc>tGc	p.Y719C	ERCC2_ENST00000391944.3_Missense_Mutation_p.Y641C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	719			Missing (in XP-D and TTDP).		cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCAGGAAGTACTTGGCCAC	0.662			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				27	61					0	0	0	0	C	45855501	T	C	45855501	3	2	408	1	0	0	0	0	1	0	0	0	5251	1638	57	5	134	5	ERCC2	19	45855501	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	199913	45855501	13273482	3631	81449											
PPP1R13L	10848	broad.mit.edu	37	chr19	45889353	45889353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccccggtcagcgccGcgtccaggaggagcaccaga	8	3	13	17	4	1	1	1	0	0	1	3	3	3	3	6	3	3	2	6	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45889353G>A	ENST00000418234.2	-	9	1979	c.1901C>T	c.(1900-1902)gCg>gTg	p.A634V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A634V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	634					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTCAGCGCCGCGTCCAGGAG	0.741													3	14					0	0	0	0	A	45889353	G	A	45889353	3	1	408	1	0	0	0	0	1	0	0	0	12434	1087	38	1	605	1	PPP1R13L	19	45889353	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	33852	45889353	13239630	3632	81450											
PPP1R13L	10848	broad.mit.edu	37	chr19	45899945	45899945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggcctggggcccctcCgccagggggctgccgcgggg	5	3	19	14	3	0	1	0	0	0	1	1	1	1	1	6	7	1	1	6	7	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45899945C>T	ENST00000418234.2	-	4	648	c.570G>A	c.(568-570)gcG>gcA	p.A190A	PPP1R13L_ENST00000360957.5_Silent_p.A190A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	190	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGGGCCCCTCCGCCAGGGGGC	0.786													4	11					0	0	0	0	T	45899945	C	T	45899945	2	4	408	1	0	0	0	0	0	0	0	1	12434	639	23	1		1	PPP1R13L	19	45899945	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	10592	45899945	13229038	3633	81451											
CD3EAP	10849	broad.mit.edu	37	chr19	45912313	45912313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggagtccccaggggggAccatggcgcctcaacagcca	8	5	13	15	1	2	0	1	0	1	0	3	2	3	2	5	5	2	0	5	5	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45912313A>G	ENST00000309424.3	+	3	1575	c.1087A>G	c.(1087-1089)Acc>Gcc	p.T363A	CD3EAP_ENST00000589804.1_Missense_Mutation_p.T365A|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	363					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCCAGGGGGGACCATGGCGCC	0.577													39	87					0	0	0	0	G	45912313	A	G	45912313	3	3	408	1	0	0	0	0	1	0	0	0	3041	275	10	5	1097	5	CD3EAP	19	45912313	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	12368	45912313	13216670	3634	81452											
FBXO46	23403	broad.mit.edu	37	chr19	46216140	46216140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggccggtccaccttgcTcggcggacacaaagactaca	9	7	10	15	3	0	1	0	0	0	1	2	2	1	2	4	4	2	1	4	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:46216140T>C	ENST00000317683.3	-	2	747	c.614A>G	c.(613-615)gAg>gGg	p.E205G		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	205							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TCCACCTTGCTCGGCGGACAC	0.687													21	22					0	0	0	0	C	46216140	T	C	46216140	3	2	408	1	0	0	0	0	1	0	0	0	5800	1551	54	5	1201	5	FBXO46	19	46216140	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	303827	46216140	12912843	3635	81453											
SYMPK	8189	broad.mit.edu	37	chr19	46341722	46341722	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacccatcctcaccagAttagccacattatcaggcgt	10	9	5	17	1	2	1	2	0	0	1	4	1	4	1	6	1	1	0	6	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:46341722A>G	ENST00000245934.7	-	10	1483	c.1239T>C	c.(1237-1239)aaT>aaC	p.N413N		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	413					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			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)		TCCTCACCAGATTAGCCACAT	0.597													6	34					0	0	0	0	G	46341722	A	G	46341722	2	3	408	1	0	0	0	0	0	0	0	1	15530	330	12	5		5	SYMPK	19	46341722	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	125582	46341722	12787261	3636	81454											
PPP5C	5536	broad.mit.edu	37	chr19	46879823	46879823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactgcaccggaaatgtGcctaccaggtaatgcatctg	13	8	10	10	1	1	1	0	0	1	1	1	2	1	2	3	2	5	3	3	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:46879823G>A	ENST00000012443.4	+	4	728	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	PPP5C_ENST00000391919.1_Missense_Mutation_p.A103T	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	209	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CCGGAAATGTGCCTACCAGGT	0.547													17	74					0	0	0	0	A	46879823	G	A	46879823	3	1	408	1	0	0	0	0	1	0	0	0	12482	1319	46	4	639	4	PPP5C	19	46879823	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	538101	46879823	12249160	3637	81455											
CCDC8	83987	broad.mit.edu	37	chr19	46914994	46914994	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgcagcctcttccctctgGttatctgcagcctctgcccc	3	13	7	18	0	5	0	0	0	5	0	6	0	6	0	5	1	5	3	5	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587													37	281					0	0	0	0	A	46914994	G	A	46914994	2	1	408	1	0	0	0	0	0	0	0	1	2880	1252	44	4		4	CCDC8	19	46914994	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	35171	46914994	12213989	3638	81456											
SAE1	10055	broad.mit.edu	37	chr19	47712512	47712512	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttggccccaagtgaactCaagatttggcagccccagag	10	7	11	13	0	1	3	1	1	0	2	1	3	1	3	5	2	2	1	5	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:47712512C>G	ENST00000413379.3	+	7	932	c.830C>G	c.(829-831)tCa>tGa	p.S277*	SAE1_ENST00000392776.3_3'UTR|SAE1_ENST00000540850.1_3'UTR|SAE1_ENST00000270225.7_3'UTR|SAE1_ENST00000598840.1_3'UTR	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	0					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CAAGTGAACTCAAGATTTGGC	0.547													19	53					0	0	0	0	G	47712512	C	G	47712512	4	3	408	1	0	0	0	0	0	1	0	0	13890	838	29	2	1079	2	SAE1	19	47712512	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	797518	47712512	11416471	3639	81457											
SLC8A2	6543	broad.mit.edu	37	chr19	47969130	47969130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacgtagatgcacacggcGatgaccacaaacatgttgaa	15	7	10	9	3	0	4	0	3	0	1	0	5	0	4	1	1	2	3	1	1	3	2	rs118059830	by1000genomes	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:47969130G>A	ENST00000236877.6	-	2	926	c.531C>T	c.(529-531)atC>atT	p.I177I	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	177					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGCACACGGCGATGACCACAA	0.582													18	46					0	0	0	0	A	47969130	G	A	47969130	2	1	408	1	0	0	0	0	0	0	0	1	14795	1048	37	1		1	SLC8A2	19	47969130	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	256618	47969130	11159853	3640	81458											
ELSPBP1	64100	broad.mit.edu	37	chr19	48519200	48519200	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggaaaggcttataacAgctgcatctcccagggcagc	12	7	11	11	1	1	0	0	0	1	0	3	2	1	1	1	3	4	4	1	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48519200A>C	ENST00000339841.2	+	4	437	c.259A>C	c.(259-261)Agc>Cgc	p.S87R	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	87	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGCTTATAACAGCTGCATCTC	0.468													29	74					0	0	0	0	C	48519200	A	C	48519200	3	2	408	1	0	0	0	0	1	0	0	0	5121	188	7	5	269	5	ELSPBP1	19	48519200	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	550070	48519200	10609783	3641	81459											
PLA2G4C	8605	broad.mit.edu	37	chr19	48608657	48608657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcgtctctccacggccGccttttcttctttctggagc	2	16	8	15	3	5	0	0	0	5	0	8	1	6	1	3	2	1	0	3	2	0	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48608657G>A	ENST00000354276.3	-	3	380	c.53C>T	c.(52-54)gCg>gTg	p.A18V	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18V|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28V|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A18V	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	18	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.A18V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTCCACGGCCGCCTTTTCTTC	0.483													6	152					0	0	0	0	A	48608657	G	A	48608657	3	1	408	1	0	0	0	0	1	0	0	0	12075	1087	38	1	1636	1	PLA2G4C	19	48608657	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	89457	48608657	10520326	3642	81460											
LIG1	3978	broad.mit.edu	37	chr19	48654515	48654515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttaggggcttgggaggcGtggtgggctggtccccgtct	2	12	18	9	2	2	0	0	0	2	0	3	1	3	1	2	7	0	2	2	7	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48654515G>A	ENST00000263274.7	-	7	967	c.548C>T	c.(547-549)aCg>aTg	p.T183M	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	183					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGGGAGGCGTGGTGGGCTG	0.567								Nucleotide excision repair (NER)					52	167					0	0	0	0	A	48654515	G	A	48654515	3	1	408	1	0	0	0	0	1	0	0	0	8835	1145	40	1	2299	1	LIG1	19	48654515	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	45858	48654515	10474468	3643	81461											
ZNF114	163071	broad.mit.edu	37	chr19	48789363	48789363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaagtattttcaagtataAtcctgtcttaaacgatagtc	13	15	5	8	1	3	0	2	0	1	0	5	1	4	0	1	0	1	2	1	0	8	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48789363A>G	ENST00000595607.1	+	6	976	c.482A>G	c.(481-483)aAt>aGt	p.N161S	ZNF114_ENST00000600687.1_Missense_Mutation_p.N161S|ZNF114_ENST00000597695.1_Missense_Mutation_p.N127S|ZNF114_ENST00000315849.1_Missense_Mutation_p.N161S			Q8NC26	ZN114_HUMAN	zinc finger protein 114	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTCAAGTATAATCCTGTCTTA	0.428													31	58					0	0	0	0	G	48789363	A	G	48789363	3	3	408	1	0	0	0	0	1	0	0	0	17811	101	4	5	492	5	ZNF114	19	48789363	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	134848	48789363	10339620	3644	81462											
GRWD1	83743	broad.mit.edu	37	chr19	48956004	48956004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcaagcagcacgtggccCccgtgacctccgtcgagtgg	6	7	12	16	4	1	1	1	1	0	0	3	2	2	1	5	2	2	2	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48956004C>T	ENST00000253237.5	+	7	1296	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	355						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCACGTGGCCCCCGTGACCTC	0.652													33	112					0	0	0	0	T	48956004	C	T	48956004	3	4	408	1	0	0	0	0	1	0	0	0	6861	623	22	4	1089	4	GRWD1	19	48956004	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	166641	48956004	10172979	3645	81463											
FAM83E	54854	broad.mit.edu	37	chr19	49106822	49106822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacatggagcggctgggccGggccggggggccgctggggg	3	3	23	12	4	0	0	0	0	0	0	0	1	0	1	4	9	1	2	4	9	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49106822G>A	ENST00000263266.3	-	4	1294	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	369										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGGCTgggccgggccgggggg	0.697													3	21					0	0	0	0	A	49106822	G	A	49106822	3	1	408	1	0	0	0	0	1	0	0	0	5683	1115	39	1	339	1	FAM83E	19	49106822	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	150818	49106822	10022161	3646	81464											
SPHK2	56848	broad.mit.edu	37	chr19	49132517	49132517	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggcagctctacactcAcccgtctccgaaggggcccc	8	5	9	19	2	3	0	1	0	2	0	4	1	3	0	5	3	2	2	5	3	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49132517A>G	ENST00000443164.1	+	5	2343	c.1638A>G	c.(1636-1638)tcA>tcG	p.S546S	SPHK2_ENST00000599748.1_Silent_p.S448S|SPHK2_ENST00000340932.3_Silent_p.S446S|SPHK2_ENST00000598088.1_Silent_p.S484S|SPHK2_ENST00000599029.1_Silent_p.S448S|SPHK2_ENST00000245222.4_Silent_p.S484S|SPHK2_ENST00000600537.1_Silent_p.S425S			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	484					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTCTACACTCACCCGTCTCCG	0.697													49	167					0	0	0	0	G	49132517	A	G	49132517	2	3	408	1	0	0	0	0	0	0	0	1	15137	146	6	5		5	SPHK2	19	49132517	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	25695	49132517	9996466	3647	81465											
DBP	1628	broad.mit.edu	37	chr19	49134122	49134122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccgtgctgggcctggtatCgggacagcacggcgcggtag	5	6	17	13	5	0	0	0	0	0	0	1	1	0	1	3	5	2	4	3	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49134122C>T	ENST00000222122.5	-	4	1393	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	DBP_ENST00000599385.1_Missense_Mutation_p.R115Q|DBP_ENST00000593500.1_Missense_Mutation_p.R115Q	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	317					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGCCTGGTATCGGGACAGCAC	0.687													5	8					0	0	0	0	T	49134122	C	T	49134122	3	4	408	1	0	0	0	0	1	0	0	0	4289	884	31	1	31	1	DBP	19	49134122	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1605	49134122	9994861	3648	81466											
NTN5	126147	broad.mit.edu	37	chr19	49167911	49167911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagtagtggcagtgccGcccagctgtgtggtggcggc	4	9	18	10	2	0	0	0	0	0	0	0	0	0	0	2	5	2	4	2	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49167911G>A	ENST00000270235.4	-	3	840	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	249	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TGGCAGTGCCGCCCAGCTGTG	0.662													8	24					0	0	0	0	A	49167911	G	A	49167911	3	1	408	1	0	0	0	0	1	0	0	0	10774	1086	38	1	744	1	NTN5	19	49167911	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	33789	49167911	9961072	3649	81467											
IZUMO1	284359	broad.mit.edu	37	chr19	49244666	49244666	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggcttatggacgacTccgtggtcgcctcccccggg	4	8	15	14	4	0	0	0	0	0	0	3	3	2	2	4	5	0	2	4	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49244666T>A	ENST00000332955.2	-	9	1371	c.824A>T	c.(823-825)gAg>gTg	p.E275V		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	275					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TATGGACGACTCCGTGGTCGC	0.557													20	75					0	0	0	0	A	49244666	T	A	49244666	3	1	408	1	0	0	0	0	1	0	0	0	7986	1551	54	5	236	5	IZUMO1	19	49244666	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	76755	49244666	9884317	3650	81468											
IZUMO1	284359	broad.mit.edu	37	chr19	49245563	49245563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggaacttccacattcCgctctgggggtgggggatga	7	11	15	8	1	1	2	0	2	1	0	3	4	3	4	2	5	1	1	2	5	1	3	rs140133186		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49245563C>T	ENST00000332955.2	-	7	1050	c.503G>A	c.(502-504)cGg>cAg	p.R168Q		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	168	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCCACATTCCGCTCTGGGGG	0.493													26	75					0	0	0	0	T	49245563	C	T	49245563	3	4	408	1	0	0	0	0	1	0	0	0	7986	652	23	1	565	1	IZUMO1	19	49245563	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	897	49245563	9883420	3651	81469											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377372	49377372	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcaatcctcagccccagcCcagaggccccagctcaagtc	9	4	8	20	1	2	1	2	0	0	1	4	1	3	1	7	1	3	2	7	1	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49377372C>A	ENST00000200453.5	+	2	1151	c.882C>A	c.(880-882)gcC>gcA	p.A294A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	294	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CAGCCCCAGCCCAGAGGCCCC	0.587													34	68					1.836e-18	1.93239e-18	1	0	A	49377372	C	A	49377372	2	1	408	1	0	0	0	0	0	0	0	1	12439	610	22	4		4	PPP1R15A	19	49377372	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	131809	49377372	9751611	3652	81470											
DHDH	27294	broad.mit.edu	37	chr19	49439398	49439398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacgggcgtgaacgcggcGgaagttcgcgagatggtcgc	7	5	17	12	8	0	2	0	1	0	1	2	4	0	3	1	4	1	1	1	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49439398G>A	ENST00000221403.2	+	3	352	c.312G>A	c.(310-312)gcG>gcA	p.A104A	DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Silent_p.A104A	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	104					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TGAACGCGGCGGAAGTTCGCG	0.642													8	19					0	0	0	0	A	49439398	G	A	49439398	2	1	408	1	0	0	0	0	0	0	0	1	4516	1103	39	1		1	DHDH	19	49439398	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	62026	49439398	9689585	3653	81471											
PPFIA3	8541	broad.mit.edu	37	chr19	49631148	49631148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgatgtgcgaggtgatGcccaccatcagcgaggatgg	9	7	15	10	2	1	2	1	2	0	0	1	5	1	3	3	3	3	0	3	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49631148G>A	ENST00000334186.4	+	2	367	c.18G>A	c.(16-18)atG>atA	p.M6I	PPFIA3_ENST00000602351.1_Missense_Mutation_p.M6I	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	6						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCGAGGTGATGCCCACCATCA	0.706													8	31					0	0	0	0	A	49631148	G	A	49631148	3	1	408	1	0	0	0	0	1	0	0	0	12382	1319	46	4	20	4	PPFIA3	19	49631148	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	191750	49631148	9497835	3654	81472											
TRPM4	54795	broad.mit.edu	37	chr19	49671539	49671539	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggattgtcactgggggTctgcacacgggcatcggccg	5	8	16	12	3	2	0	1	0	1	0	3	1	2	1	2	5	1	2	2	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49671539T>C	ENST00000252826.5	+	5	597	c.471T>C	c.(469-471)ggT>ggC	p.G157G	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.G157G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	157					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCACTGGGGGTCTGCACACGG	0.607													48	119					0	0	0	0	C	49671539	T	C	49671539	2	2	408	1	0	0	0	0	0	0	0	1	16683	1654	58	5		5	TRPM4	19	49671539	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	40391	49671539	9457444	3655	81473											
BCL2L12	83596	broad.mit.edu	37	chr19	50173670	50173670	+	Frame_Shift_Del	DEL	G	G	-																															agccggcgcgtggccgggctGgggggcaccctggccggact																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50173670delG	ENST00000246785.3	+	6	1137	c.879delG	c.(877-879)ctfs	p.L293fs	BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs|BCL2L12_ENST00000246784.3_3'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	293					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TGGCCGGGCTGGGGGGCACCC	0.751													4	8	---	---	---	---					-	50173670	G	-	50173670	7	5	408	1	0	1	0	1	0	0	0	0	1374	1335	47	0	901	0	BCL2L12	19	50173670	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	502131	50173670	8955313	3656	81474											
CPT1C	126129	broad.mit.edu	37	chr19	50208489	50208489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactttgctgatgggaatgCgccccttatgctctgcccag	7	11	11	12	1	1	2	0	1	1	1	1	3	1	3	3	1	4	2	3	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50208489C>T	ENST00000392518.4	+	10	1270	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	CPT1C_ENST00000354199.5_Missense_Mutation_p.R300C|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289C|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300C|CPT1C_ENST00000323446.5_Missense_Mutation_p.R300C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	300					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GATGGGAATGCGCCCCTTATG	0.587													52	151					0	0	0	0	T	50208489	C	T	50208489	3	4	408	1	0	0	0	0	1	0	0	0	3863	768	27	1	928	1	CPT1C	19	50208489	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	34819	50208489	8920494	3657	81475											
TSKS	60385	broad.mit.edu	37	chr19	50247606	50247606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaatgggtttcagtgggcCcagcccctccagttcgctcc	6	9	11	15	1	1	1	1	0	0	1	4	1	3	1	5	2	1	3	5	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50247606C>A	ENST00000246801.3	-	8	1325	c.1243G>T	c.(1243-1245)Ggc>Tgc	p.G415C	TSKS_ENST00000358830.3_Missense_Mutation_p.G215C	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	415							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCAGTGGGCCCAGCCCCTCC	0.592													21	73					8.10497e-08	8.33977e-08	1	0	A	50247606	C	A	50247606	3	1	408	1	0	0	0	0	1	0	0	0	16721	623	22	4	551	4	TSKS	19	50247606	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	39117	50247606	8881377	3658	81476											
TBC1D17	79735	broad.mit.edu	37	chr19	50384596	50384596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctaaagtccatccgcCgctccaagccaggcctcagc	9	5	11	16	2	1	0	1	0	0	0	4	1	4	1	6	2	3	2	6	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50384596C>T	ENST00000221543.5	+	5	690	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R98C|TBC1D17_ENST00000598789.1_3'UTR	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	131						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GTCCATCCGCCGCTCCAAGCC	0.682													16	24					0	0	0	0	T	50384596	C	T	50384596	3	4	408	1	0	0	0	0	1	0	0	0	15697	652	23	1	409	1	TBC1D17	19	50384596	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	136990	50384596	8744387	3659	81477											
NAPSA	9476	broad.mit.edu	37	chr19	50861878	50861878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgcgagtgcgagcgcgcgCcaggcccacccgggcgctgc	4	3	16	18	8	0	0	0	0	0	0	1	2	1	0	4	2	3	1	4	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50861878C>G	ENST00000253719.2	-	9	1403	c.1195G>C	c.(1195-1197)Gcg>Ccg	p.A399P	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	399					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGAGCGCGCGCCAGGCCCACC	0.697													9	20					0	0	0	0	G	50861878	C	G	50861878	3	3	408	1	0	0	0	0	1	0	0	0	10236	739	26	4	71	4	NAPSA	19	50861878	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	477282	50861878	8267105	3660	81478											
NAPSA	9476	broad.mit.edu	37	chr19	50864944	50864944	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtcctcgctcaggatTccatctacccgcccagttcc	6	11	7	17	2	2	0	1	0	1	0	6	1	5	1	5	1	2	3	5	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50864944T>C	ENST00000253719.2	-	4	652	c.444A>G	c.(442-444)ggA>ggG	p.G148G	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	148					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGCTCAGGATTCCATCTACCC	0.512													10	179					0	0	0	0	C	50864944	T	C	50864944	2	2	408	1	0	0	0	0	0	0	0	1	10236	1770	62	5		5	NAPSA	19	50864944	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3066	50864944	8264039	3661	81479											
POLD1	5424	broad.mit.edu	37	chr19	50906792	50906792	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaccccgacgtgatcAccggttacaacatccagaac	12	7	8	14	3	2	2	2	1	0	1	3	4	3	3	4	2	3	1	4	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50906792A>G	ENST00000440232.2	+	10	1233	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	POLD1_ENST00000595904.1_Missense_Mutation_p.T394A|POLD1_ENST00000599857.1_Missense_Mutation_p.T394A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	394					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGACGTGATCACCGGTTACAA	0.612								DNA polymerases (catalytic subunits)					9	321					0	0	0	0	G	50906792	A	G	50906792	3	3	408	1	0	0	0	0	1	0	0	0	12262	159	6	5	1214	5	POLD1	19	50906792	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	41848	50906792	8222191	3662	81480											
LRRC4B	94030	broad.mit.edu	37	chr19	51021586	51021586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccgctgccggtgccccCggccgccacggggtccacgg	2	3	15	21	7	0	0	0	0	0	0	1	0	1	0	8	5	2	1	8	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51021586C>T	ENST00000599957.1	-	3	1581	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G462R			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	462	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ccggtgcccccggccgccacG	0.716													15	35					0	0	0	0	T	51021586	C	T	51021586	3	4	408	1	0	0	0	0	1	0	0	0	9071	652	23	1	761	1	LRRC4B	19	51021586	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	114794	51021586	8107397	3663	81481											
LRRC4B	94030	broad.mit.edu	37	chr19	51022098	51022098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagaggtcgtggggcagcGacatcaggttgttgtgggac	8	9	18	6	2	1	2	1	1	0	1	2	4	1	3	0	5	1	3	0	5	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51022098G>A	ENST00000599957.1	-	3	1069	c.872C>T	c.(871-873)tCg>tTg	p.S291L	LRRC4B_ENST00000389201.3_Missense_Mutation_p.S291L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	291						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGGGGCAGCGACATCAGGTT	0.637													23	111					0	0	0	0	A	51022098	G	A	51022098	3	1	408	1	0	0	0	0	1	0	0	0	9071	1059	37	1	1273	1	LRRC4B	19	51022098	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	512	51022098	8106885	3664	81482											
SHANK1	50944	broad.mit.edu	37	chr19	51191246	51191246	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccttcaccatcagcgTgttgcccccttggcggatca	7	9	8	17	2	3	0	3	0	0	0	3	1	3	1	5	2	2	1	5	2	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51191246T>C	ENST00000293441.1	-	17	2260	c.2242A>G	c.(2242-2244)Acg>Gcg	p.T748A	SHANK1_ENST00000391814.1_Missense_Mutation_p.T748A|SHANK1_ENST00000359082.3_Missense_Mutation_p.T739A|SHANK1_ENST00000391813.1_Missense_Mutation_p.T135A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	748	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCATCAGCGTGTTGCCCCCT	0.607													32	65					0	0	0	0	C	51191246	T	C	51191246	3	2	408	1	0	0	0	0	1	0	0	0	14352	1696	59	5	4271	5	SHANK1	19	51191246	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	169148	51191246	7937737	3665	81483											
KLK3	354	broad.mit.edu	37	chr19	51363282	51363282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcaaggtatcacgtcaTggggcagtgaaccatgtgcc	9	10	12	10	1	3	1	3	1	0	0	3	1	3	1	2	3	3	3	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51363282T>C	ENST00000326003.2	+	5	726	c.685T>C	c.(685-687)Tgg>Cgg	p.W229R	KLK3_ENST00000595952.1_Missense_Mutation_p.W186R|KLK3_ENST00000360617.3_3'UTR	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	229	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TATCACGTCATGGGGCAGTGA	0.547													39	105					0	0	0	0	C	51363282	T	C	51363282	3	2	408	1	0	0	0	0	1	0	0	0	8457	1464	51	5	798	5	KLK3	19	51363282	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	172036	51363282	7765701	3666	81484											
LIM2	3982	broad.mit.edu	37	chr19	51883888	51883888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaaggccaacacgacgaAaagggctggggagagagggc	13	1	18	9	2	0	1	0	0	0	1	0	5	0	2	2	6	1	1	2	6	4	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51883888A>G	ENST00000221973.3	-	4	499	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	LIM2_ENST00000596399.1_Missense_Mutation_p.F111L	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	111					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		AACACGACGAAAAGGGCTGgg	0.602													31	78					0	0	0	0	G	51883888	A	G	51883888	3	3	408	1	0	0	0	0	1	0	0	0	8849	14	1	5	198	5	LIM2	19	51883888	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	520606	51883888	7245095	3667	81485											
CEACAM18	729767	broad.mit.edu	37	chr19	51983803	51983803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctgggcccatgtacactgGcagggagagagtgaacagag	11	5	16	9	0	0	3	0	1	0	2	0	5	0	4	2	3	2	2	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51983803G>A	ENST00000396477.4	+	2	290	c.269G>A	c.(268-270)gGc>gAc	p.G90D	CEACAM18_ENST00000451626.1_Missense_Mutation_p.G151D	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	151						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGTACACTGGCAGGGAGAGA	0.552													24	72					0	0	0	0	A	51983803	G	A	51983803	3	1	408	1	0	0	0	0	1	0	0	0	3218	1203	42	4	462	4	CEACAM18	19	51983803	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	99915	51983803	7145180	3668	81486											
ZNF175	7728	broad.mit.edu	37	chr19	52076596	52076596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagatgcctgctgatgTgaatttatcccagaagcctc	10	11	11	9	0	0	4	0	2	0	2	2	5	1	4	3	1	3	1	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52076596T>C	ENST00000262259.2	+	2	372	c.14T>C	c.(13-15)gTg>gCg	p.V5A	ZNF175_ENST00000596504.1_Missense_Mutation_p.V5A|ZNF175_ENST00000545217.1_Missense_Mutation_p.V5A|ZNF175_ENST00000436511.2_Missense_Mutation_p.V5A	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	5					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCTGCTGATGTGAATTTATCC	0.527													5	188					0	0	0	0	C	52076596	T	C	52076596	3	2	408	1	0	0	0	0	1	0	0	0	17840	1696	59	5	16	5	ZNF175	19	52076596	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	92793	52076596	7052387	3669	81487											
ZNF613	79898	broad.mit.edu	37	chr19	52448704	52448704	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggaaagctttctcccActtgtcatgccttgtttatc	6	17	8	10	0	2	0	1	0	1	0	4	1	2	1	2	1	2	2	2	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52448704A>G	ENST00000293471.6	+	6	2247	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	ZNF613_ENST00000391794.4_Missense_Mutation_p.H487R|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GCTTTCTCCCACTTGTCATGC	0.433													26	63					0	0	0	0	G	52448704	A	G	52448704	3	3	408	1	0	0	0	0	1	0	0	0	18133	159	6	5	1582	5	ZNF613	19	52448704	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	372108	52448704	6680279	3670	81488											
ZNF432	9668	broad.mit.edu	37	chr19	52537581	52537581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagggcttctctcctgtatGagttcgctgatgtatgatga	7	15	12	7	1	1	4	0	4	1	0	4	4	2	4	1	1	0	6	1	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52537581G>A	ENST00000594154.1	-	5	1563	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	ZNF432_ENST00000221315.5_Missense_Mutation_p.H451Y			O94892	ZN432_HUMAN	zinc finger protein 432	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCCTGTATGAGTTCGCTGA	0.428													15	66					0	0	0	0	A	52537581	G	A	52537581	3	1	408	1	0	0	0	0	1	0	0	0	18001	1290	45	2	611	2	ZNF432	19	52537581	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	88877	52537581	6591402	3671	81489											
ZNF616	90317	broad.mit.edu	37	chr19	52618702	52618702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtaaggtttctctccaCtatgaattctccgatgcact	9	16	6	10	1	2	1	0	1	2	0	5	2	3	1	2	1	1	3	2	1	3	5	rs150574210		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52618702C>T	ENST00000600228.1	-	4	1976	c.1715G>A	c.(1714-1716)aGt>aAt	p.S572N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTCTCTCCACTATGAATTCT	0.428													18	40					0	0	0	0	T	52618702	C	T	52618702	3	4	408	1	0	0	0	0	1	0	0	0	18136	565	20	4	634	4	ZNF616	19	52618702	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	81121	52618702	6510281	3672	81490											
ZNF610	162963	broad.mit.edu	37	chr19	52869218	52869218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacaagaagagaaagcatAcattagaggaaaatcttatg	19	7	8	7	0	1	3	0	0	1	3	1	5	1	4	1	1	2	1	1	1	8	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52869218A>G	ENST00000601151.1	+	5	910	c.458A>G	c.(457-459)tAc>tGc	p.Y153C	ZNF610_ENST00000327920.8_Missense_Mutation_p.Y196C|ZNF610_ENST00000403906.3_Missense_Mutation_p.Y196C|ZNF610_ENST00000321287.8_Missense_Mutation_p.Y196C	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GAGAAAGCATACATTAGAGGA	0.328													10	85					0	0	0	0	G	52869218	A	G	52869218	3	3	408	1	0	0	0	0	1	0	0	0	18131	391	14	5	601	5	ZNF610	19	52869218	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	250516	52869218	6259765	3673	81491											
ZNF880	400713	broad.mit.edu	37	chr19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-																															ccagagtggaggccccataaTtttttttttttttaaacagg																								rs77187934		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													9	12	---	---	---	---					-	52877717	T	-	52877717	7	5	408	1	0	1	0	1	0	0	0	0	18290	1508	52	0		0	ZNF880	19	52877717	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	8499	52877717	6251266	3674	81492											
ZNF808	388558	broad.mit.edu	37	chr19	53058337	53058337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaacaggtcatcccttgTatgccatcgtagaattcata	12	12	7	10	1	2	1	2	0	0	1	4	1	3	1	2	1	2	3	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53058337T>C	ENST00000359798.4	+	5	2348	c.2168T>C	c.(2167-2169)gTa>gCa	p.V723A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCATCCCTTGTATGCCATCGT	0.433													77	261					0	0	0	0	C	53058337	T	C	53058337	3	2	408	1	0	0	0	0	1	0	0	0	18266	1638	57	5	2178	5	ZNF808	19	53058337	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	180620	53058337	6070646	3675	81493											
ZNF28	7576	broad.mit.edu	37	chr19	53302978	53302978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgaagtctatgatggtatAcaaggtttgacatctgactg	12	14	10	5	0	2	4	0	4	2	0	2	4	2	4	0	2	1	2	0	2	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53302978A>G	ENST00000438150.2	-	2	2854	c.1961T>C	c.(1960-1962)gTa>gCa	p.V654A	ZNF28_ENST00000414252.2_Missense_Mutation_p.V654A|ZNF28_ENST00000457749.2_Missense_Mutation_p.V707A|ZNF28_ENST00000360272.4_Missense_Mutation_p.V654A			P17035	ZNF28_HUMAN	zinc finger protein 28	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATGATGGTATACAAGGTTTGA	0.418													47	131					0	0	0	0	G	53302978	A	G	53302978	3	3	408	1	0	0	0	0	1	0	0	0	17908	391	14	5	40	5	ZNF28	19	53302978	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	244641	53302978	5826005	3676	81494											
ZNF28	7576	broad.mit.edu	37	chr19	53303779	53303779	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgccacattcattacacTtgtaaggcttctctccagtg	8	14	6	13	0	2	0	1	0	1	0	4	0	3	0	3	1	2	2	3	1	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53303779T>G	ENST00000438150.2	-	2	2053	c.1160A>C	c.(1159-1161)aAg>aCg	p.K387T	ZNF28_ENST00000414252.2_Missense_Mutation_p.K387T|ZNF28_ENST00000457749.2_Missense_Mutation_p.K440T|ZNF28_ENST00000360272.4_Missense_Mutation_p.K387T			P17035	ZNF28_HUMAN	zinc finger protein 28	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTCATTACACTTGTAAGGCTT	0.373													13	160					0	0	0	0	G	53303779	T	G	53303779	3	3	408	1	0	0	0	0	1	0	0	0	17908	1609	56	5	841	5	ZNF28	19	53303779	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	801	53303779	5825204	3677	81495											
BIRC8	112401	broad.mit.edu	37	chr19	53793236	53793236	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaattctttcctccattAttttcttaacgtccttgaaa	9	20	3	9	1	2	2	0	2	2	0	5	2	5	2	3	0	1	0	3	0	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53793236A>T	ENST00000426466.1	-	1	1639	c.392T>A	c.(391-393)aTa>aAa	p.I131K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	131					apoptosis		zinc ion binding			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)		TTCCTCCATTATTTTCTTAAC	0.378													4	194					0	0	0	0	T	53793236	A	T	53793236	3	4	408	1	0	0	0	0	1	0	0	0	1445	449	16	5	322	5	BIRC8	19	53793236	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	489457	53793236	5335747	3678	81496											
ZNF845	91664	broad.mit.edu	37	chr19	53855647	53855647	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaccatcaagcaatccaTggtatagggaaactttacaa	16	11	6	8	0	1	0	1	0	0	0	2	1	2	1	2	2	4	2	2	2	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53855647T>C	ENST00000458035.1	+	4	1836	c.1719T>C	c.(1717-1719)caT>caC	p.H573H	ZNF845_ENST00000595091.1_Silent_p.H573H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAGCAATCCATGGTATAGGGA	0.398													18	66					0	0	0	0	C	53855647	T	C	53855647	2	2	408	1	0	0	0	0	0	0	0	1	18284	1461	51	5		5	ZNF845	19	53855647	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	62411	53855647	5273336	3679	81497											
ZNF845	91664	broad.mit.edu	37	chr19	53855702	53855702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaagtctttagtaatgctAcaaccattgcaaatcattgg	14	12	6	9	0	2	0	1	0	1	0	2	0	2	0	2	1	4	3	2	1	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53855702A>G	ENST00000458035.1	+	4	1891	c.1774A>G	c.(1774-1776)Aca>Gca	p.T592A	ZNF845_ENST00000595091.1_Missense_Mutation_p.T592A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAGTAATGCTACAACCATTGC	0.378													3	48					0	0	0	0	G	53855702	A	G	53855702	3	3	408	1	0	0	0	0	1	0	0	0	18284	391	14	5	1784	5	ZNF845	19	53855702	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	55	53855702	5273281	3680	81498											
ZNF765	91661	broad.mit.edu	37	chr19	53905357	53905357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggccatagaattctctCaggaggagtggaaatgcctg	11	10	13	7	0	2	1	1	0	1	1	3	4	2	4	2	4	1	0	2	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53905357C>G	ENST00000396408.3	+	3	172	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	ZNF765_ENST00000594030.1_Missense_Mutation_p.Q19E	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AGAATTCTCTCAGGAGGAGTG	0.448													35	150					0	0	0	0	G	53905357	C	G	53905357	3	3	408	1	0	0	0	0	1	0	0	0	18233	827	29	2	61	2	ZNF765	19	53905357	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	49655	53905357	5223626	3681	81499											
ZNF761	388561	broad.mit.edu	37	chr19	53945669	53945669	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaaaaagaagacaaatgtGaggaagagatgaagattctt	19	8	10	4	0	2	6	1	2	1	4	2	8	2	7	0	1	0	0	0	1	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53945669G>A	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGACAAATGTGAGGAAGAGAT	0.448													29	66					0	0	0	0	A	53945669	G	A	53945669	1	1	408	0	1	0	0	0	0	0	0	0	18230	1305	45	2		2	ZNF761	19	53945669	RNA	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	40312	53945669	5183314	3682	81500											
ZNF761	388561	broad.mit.edu	37	chr19	53958820	53958820	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatactggagagaaaccTtacaagtgtaatgagtgtgg	13	11	11	6	0	1	2	1	1	0	1	1	4	1	3	1	2	3	1	1	2	5	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53958820T>C	ENST00000454407.1	+	0	1512							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAGAAACCTTACAAGTGTA	0.408													7	271					0	0	0	0	C	53958820	T	C	53958820	1	2	408	0	1	0	0	0	0	0	0	0	18230	1596	56	5		5	ZNF761	19	53958820	RNA	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	13151	53958820	5170163	3683	81501											
ZNF331	55422	broad.mit.edu	37	chr19	54081079	54081079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaagagctttagtcAcggccatcagcttacacaac	12	9	10	10	1	2	1	2	0	0	1	2	2	2	2	1	2	4	2	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54081079A>T	ENST00000253144.9	+	7	2598	c.1265A>T	c.(1264-1266)cAc>cTc	p.H422L	ZNF331_ENST00000411977.2_Missense_Mutation_p.H422L|ZNF331_ENST00000511154.1_Missense_Mutation_p.H422L|ZNF331_ENST00000511593.2_Missense_Mutation_p.H422L|ZNF331_ENST00000513999.1_Missense_Mutation_p.H422L|ZNF331_ENST00000449416.1_Missense_Mutation_p.H422L|ZNF331_ENST00000512387.1_Missense_Mutation_p.H422L	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGCTTTAGTCACGGCCATCAG	0.488			T	?	follicular thyroid adenoma								21	46					0	0	0	0	T	54081079	A	T	54081079	3	4	408	1	0	0	0	0	1	0	0	0	17944	159	6	5	1275	5	ZNF331	19	54081079	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	122259	54081079	5047904	3684	81502											
NLRP12	91662	broad.mit.edu	37	chr19	54308536	54308536	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggatagagactcactgAatcatctgcagcctgcactg	10	8	11	12	1	3	2	2	1	1	1	3	4	3	3	2	2	3	2	2	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54308536A>G	ENST00000324134.6	-	5	2580	c.2412T>C	c.(2410-2412)atT>atC	p.I804I	NLRP12_ENST00000391773.1_Silent_p.I805I|NLRP12_ENST00000345770.5_Silent_p.I805I|NLRP12_ENST00000354278.3_Silent_p.I804I|NLRP12_ENST00000351894.4_Silent_p.I804I|NLRP12_ENST00000535162.1_Silent_p.I804I|NLRP12_ENST00000391772.1_Silent_p.I805I|NLRP12_ENST00000391775.3_Silent_p.I804I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	804					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGACTCACTGAATCATCTGCA	0.507													24	99					0	0	0	0	G	54308536	A	G	54308536	2	3	408	1	0	0	0	0	0	0	0	1	10544	242	9	5		5	NLRP12	19	54308536	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	227457	54308536	4820447	3685	81503											
NLRP12	91662	broad.mit.edu	37	chr19	54310864	54310864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaggtttggattggtgcAcagggccgctgccagatgtt	7	12	14	8	1	1	1	1	0	0	1	1	2	1	2	2	4	2	4	2	4	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54310864A>G	ENST00000324134.6	-	4	2296	c.2128T>C	c.(2128-2130)Tgc>Cgc	p.C710R	NLRP12_ENST00000391773.1_Missense_Mutation_p.C711R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C711R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C710R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C710R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C710R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C711R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C710R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	710					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGATTGGTGCACAGGGCCGCT	0.567													25	71					0	0	0	0	G	54310864	A	G	54310864	3	3	408	1	0	0	0	0	1	0	0	0	10544	159	6	5	1181	5	NLRP12	19	54310864	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2328	54310864	4818119	3686	81504											
OSCAR	126014	broad.mit.edu	37	chr19	54598534	54598534	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgactgcgccagtcaaaAgtgaccagcgcgcccaggga	10	6	12	13	3	2	2	1	2	1	0	2	3	2	3	3	1	2	0	3	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54598534A>G	ENST00000358375.4	-	5	789	c.744T>C	c.(742-744)acT>acC	p.T248T	OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000356532.3_Silent_p.T252T|OSCAR_ENST00000351806.4_Silent_p.T237T	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCCAGTCAAAAGTGACCAGCG	0.677													7	23					0	0	0	0	G	54598534	A	G	54598534	2	3	408	1	0	0	0	0	0	0	0	1	11356	59	3	5		5	OSCAR	19	54598534	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	287670	54598534	4530449	3687	81505											
NDUFA3	4696	broad.mit.edu	37	chr19	54611747	54611747	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaataacttatctcctagCggctggggaaaagggccaca	12	7	12	10	2	1	0	0	0	1	0	2	2	1	2	2	5	2	1	2	5	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54611747C>T	ENST00000391764.3	+	4	174	c.163_splice	c.e4-1	p.A55_splice	TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391759.1_Intron|TFPT_ENST00000391758.1_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	TATCTCCTAGCGGCTGGGGAA	0.597													13	42					0	0	0	0	T	54611747	C	T	54611747	5	4	408	1	0	0	0	0	0	0	1	0	10335	783	27	1		1	NDUFA3	19	54611747	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	13213	54611747	4517236	3688	81506											
CNOT3	4849	broad.mit.edu	37	chr19	54657010	54657010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccactggctcacccgCggcccctccccagccctgct	3	7	9	22	2	1	0	1	0	0	0	2	0	2	0	7	2	3	3	7	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54657010C>T	ENST00000358389.3	+	17	2441	c.1587C>T	c.(1585-1587)cgC>cgT	p.R529R	CNOT3_ENST00000221232.5_Intron|CNOT3_ENST00000406403.1_Intron|CNOT3_ENST00000496327.1_Intron			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	336	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCTCACCCGCGGCCCCTCCC	0.652													17	48					0	0	0	0	T	54657010	C	T	54657010	2	4	408	1	0	0	0	0	0	0	0	1	3650	783	27	1		1	CNOT3	19	54657010	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	45263	54657010	4471973	3689	81507											
LILRA3	11026	broad.mit.edu	37	chr19	54802539	54802539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accactcggaggagaggttgTatgcaccggagcatgtgtac	10	8	14	9	2	0	1	0	0	0	1	1	4	0	3	2	4	3	5	2	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54802539T>C	ENST00000391745.1	-	9	1269	c.953A>G	c.(952-954)tAc>tGc	p.Y318C	LILRA3_ENST00000391744.3_Missense_Mutation_p.Y237C|LILRA3_ENST00000251390.3_Missense_Mutation_p.Y301C					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAGAGGTTGTATGCACCGGA	0.682													20	30					0	0	0	0	C	54802539	T	C	54802539	3	2	408	1	0	0	0	0	1	0	0	0	8840	1638	57	5	429	5	LILRA3	19	54802539	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	145529	54802539	4326444	3690	81508											
LILRA5	353514	broad.mit.edu	37	chr19	54822643	54822643	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctctccacaacctgtctgGcttccctgaattgtactaga	9	12	7	13	0	2	2	0	1	2	1	4	2	3	2	3	1	3	3	3	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54822643G>A	ENST00000446712.3	-	4	795	c.717C>T	c.(715-717)agC>agT	p.S239S	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.S251S|LILRA5_ENST00000346508.3_Intron|LILRA5_ENST00000301219.3_Intron	NM_181986.2	NP_871715.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	0					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AACCTGTCTGGCTTCCCTGAA	0.517													25	71					0	0	0	0	A	54822643	G	A	54822643	2	1	408	1	0	0	0	0	0	0	0	1	8842	1194	42	4		4	LILRA5	19	54822643	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	20104	54822643	4306340	3691	81509											
TTYH1	57348	broad.mit.edu	37	chr19	54930385	54930385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctacctcatccgcttctgCtgctgccggccccccgagcc	3	9	9	20	3	3	0	1	0	2	0	4	1	4	0	7	1	5	3	7	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54930385C>T	ENST00000301194.4	+	2	332	c.210C>T	c.(208-210)tgC>tgT	p.C70C	TTYH1_ENST00000391739.3_Silent_p.C119C|TTYH1_ENST00000376530.3_Silent_p.C70C|TTYH1_ENST00000376531.3_Silent_p.C70C			Q9H313	TTYH1_HUMAN	tweety family member 1	70					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TCCGCTTCTGCTGCTGCCGGC	0.682													19	133					0	0	0	0	T	54930385	C	T	54930385	2	4	408	1	0	0	0	0	0	0	0	1	16835	805	28	4		4	TTYH1	19	54930385	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	107742	54930385	4198598	3692	81510											
LENG8	114823	broad.mit.edu	37	chr19	54965653	54965653	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatgtcctaccaggctccCcctcagcagctgccgtcggc	6	7	10	18	2	1	0	1	0	0	0	4	0	3	0	5	2	5	4	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54965653C>A	ENST00000326764.5	+	6	950	c.471C>A	c.(469-471)ccC>ccA	p.P157P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	120							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACCAGGCTCCCCCTCAGCAGC	0.667													22	53					2.79863e-10	2.90221e-10	1	0	A	54965653	C	A	54965653	2	1	408	1	0	0	0	0	0	0	0	1	8777	610	22	4		4	LENG8	19	54965653	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	35268	54965653	4163330	3693	81511											
LENG8	114823	broad.mit.edu	37	chr19	54967630	54967630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcggggccgaggcagggcGcagcgtgggaagaggtgaga	9	3	22	7	4	0	2	0	1	0	2	1	6	0	3	1	6	1	2	1	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54967630G>A	ENST00000326764.5	+	10	1910	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	440							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GAGGCAGGGCGCAGCGTGGGA	0.687													4	21					0	0	0	0	A	54967630	G	A	54967630	2	1	408	1	0	0	0	0	0	0	0	1	8777	1074	38	1		1	LENG8	19	54967630	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1977	54967630	4161353	3694	81512											
LILRA1	11024	broad.mit.edu	37	chr19	55105247	55105247	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggagggacgactgccatgGtaaggaccccacaacgctga	11	5	13	12	2	0	1	0	1	0	0	0	5	0	4	3	4	2	2	3	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55105247G>A	ENST00000453777.1	+	1	122		c.e1+1		LILRA1_ENST00000251372.3_Splice_Site|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_Splice_Site|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GACTGCCATGGTAAGGACCCC	0.577													4	9					0	0	0	0	A	55105247	G	A	55105247	5	1	408	1	0	0	0	0	0	0	1	0	8838	1275	44	4		4	LILRA1	19	55105247	Splice_Site	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	137617	55105247	4023736	3695	81513											
NLRP7	199713	broad.mit.edu	37	chr19	55451630	55451630	+	Missense_Mutation	SNP	G	G	A																															gcatacactttttggccagcGtggttttccccacgcctgcg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55451630G>A	ENST00000446217.1	-	6	1043	c.641C>T	c.(640-642)aCg>aTg	p.T214M	NLRP7_ENST00000448121.2_Missense_Mutation_p.T186M|NLRP7_ENST00000328092.5_Missense_Mutation_p.T186M|NLRP7_ENST00000592784.1_Missense_Mutation_p.T186M|NLRP7_ENST00000590030.1_Missense_Mutation_p.T186M|NLRP7_ENST00000340844.2_Missense_Mutation_p.T186M|NLRP7_ENST00000588756.1_Missense_Mutation_p.T186M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	186	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTTGGCCAGCGTGGTTTTCCC	0.572													34	125					0	0	0	0	A	55451630	G	A	55451630	3	1	408	1	0	0	0	0	1	0	0	0	10552	1145	40	1	2588	1	NLRP7	19	55451630	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	346383	55451630	3677353	3696	81514	1046	2									
NLRP7	199713	broad.mit.edu	37	chr19	55451637	55451637	+	Missense_Mutation	SNP	T	T	C																															ctttttggccagcgtggtttTccccacgcctgcggggccgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55451637T>C	ENST00000446217.1	-	6	1036	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	NLRP7_ENST00000448121.2_Missense_Mutation_p.K184E|NLRP7_ENST00000328092.5_Missense_Mutation_p.K184E|NLRP7_ENST00000592784.1_Missense_Mutation_p.K184E|NLRP7_ENST00000590030.1_Missense_Mutation_p.K184E|NLRP7_ENST00000340844.2_Missense_Mutation_p.K184E|NLRP7_ENST00000588756.1_Missense_Mutation_p.K184E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	184	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCGTGGTTTTCCCCACGCCT	0.567													5	168					0	0	0	0	C	55451637	T	C	55451637	3	2	408	1	0	0	0	0	1	0	0	0	10552	1792	62	5	2595	5	NLRP7	19	55451637	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7	55451637	3677346	3697	81515	1046	2									
EPS8L1	54869	broad.mit.edu	37	chr19	55592177	55592177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatccagggggctctgcAcaattaccgctcgggccgcg	7	6	14	14	4	1	0	0	0	1	0	3	1	2	1	3	4	2	3	3	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55592177A>G	ENST00000201647.6	+	7	523	c.467A>G	c.(466-468)cAc>cGc	p.H156R	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000540810.1_Missense_Mutation_p.H92R|EPS8L1_ENST00000586329.1_Missense_Mutation_p.H138R|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.H29R	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	156						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGGCTCTGCACAATTACCGC	0.687													10	28					0	0	0	0	G	55592177	A	G	55592177	3	3	408	1	0	0	0	0	1	0	0	0	5233	159	6	5	541	5	EPS8L1	19	55592177	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	140540	55592177	3536806	3698	81516											
EPS8L1	54869	broad.mit.edu	37	chr19	55593505	55593505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgccctcggaggccgagtAcaccgacgtgctgcagaaga	9	4	14	14	5	0	2	0	0	0	2	1	5	0	3	4	2	3	3	4	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55593505A>G	ENST00000201647.6	+	10	1003	c.947A>G	c.(946-948)tAc>tGc	p.Y316C	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000540810.1_Missense_Mutation_p.Y252C|EPS8L1_ENST00000586329.1_Missense_Mutation_p.Y298C|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.Y189C	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	316						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAGGCCGAGTACACCGACGTG	0.731													6	18					0	0	0	0	G	55593505	A	G	55593505	3	3	408	1	0	0	0	0	1	0	0	0	5233	391	14	5	1033	5	EPS8L1	19	55593505	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1328	55593505	3535478	3699	81517											
PTPRH	5794	broad.mit.edu	37	chr19	55708058	55708058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcctcccacctccaactCaaaggcctcgtagcctccct	7	9	5	20	1	1	0	1	0	0	0	6	0	5	0	7	1	2	1	7	1	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55708058C>G	ENST00000376350.3	-	10	2111	c.2089G>C	c.(2089-2091)Gag>Cag	p.E697Q	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.E519Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	697	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACCTCCAACTCAAAGGCCTCG	0.617													28	54					0	0	0	0	G	55708058	C	G	55708058	3	3	408	1	0	0	0	0	1	0	0	0	12885	835	29	2	1302	2	PTPRH	19	55708058	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	114553	55708058	3420925	3700	81518											
SUV420H2	84787	broad.mit.edu	37	chr19	55854170	55854170	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatcctgccctgcacgCgctactccatggagaccaac	9	8	7	17	2	0	1	0	0	0	1	2	2	2	1	5	1	5	2	5	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55854170C>A	ENST00000255613.3	+	4	585	c.337C>A	c.(337-339)Cgc>Agc	p.R113S	SUV420H2_ENST00000402499.4_Intron|AC020922.1_ENST00000539076.1_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	113	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCCTGCACGCGCTACTCCAT	0.622													4	75					1	1	1	0	A	55854170	C	A	55854170	3	1	408	1	0	0	0	0	1	0	0	0	15505	768	27	3	347	3	SUV420H2	19	55854170	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	146112	55854170	3274813	3701	81519											
UBE2S	27338	broad.mit.edu	37	chr19	55915684	55915684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcggatgcccagctcaGccgtccagtccctcttgagc	5	9	11	16	3	2	1	1	1	1	0	5	2	4	2	4	1	4	1	4	1	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55915684G>A	ENST00000264552.9	-	3	501	c.314C>T	c.(313-315)gCt>gTt	p.A105V	UBE2S_ENST00000589978.1_Silent_p.G79G	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	105					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GCCCAGCTCAGCCGTCCAGTC	0.637													10	83					0	0	0	0	A	55915684	G	A	55915684	3	1	408	1	0	0	0	0	1	0	0	0	16968	971	34	4	362	4	UBE2S	19	55915684	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	61514	55915684	3213299	3702	81520											
SBK2	646643	broad.mit.edu	37	chr19	56042676	56042676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccacggagggacgtgCggggtttcgggagctgcttc	6	7	19	9	4	0	0	0	0	0	0	2	4	0	4	1	6	4	3	1	6	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56042676C>T	ENST00000413299.1	-	3	327	c.290G>A	c.(289-291)cGc>cAc	p.R97H	SBK2_ENST00000344158.3_Missense_Mutation_p.R97H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	97	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGGACGTGCGGGGTTTCGG	0.672													8	27					0	0	0	0	T	56042676	C	T	56042676	3	4	408	1	0	0	0	0	1	0	0	0	13947	768	27	1	763	1	SBK2	19	56042676	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	126992	56042676	3086307	3703	81521											
ZNF524	147807	broad.mit.edu	37	chr19	56113819	56113819	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccccaggaaggccccacActtctgcccggtgtgcctgc	5	7	12	17	1	1	0	0	0	1	0	1	1	1	1	6	4	3	0	6	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56113819A>G	ENST00000591046.1	+	1	575	c.341A>G	c.(340-342)cAc>cGc	p.H114R	ZNF524_ENST00000301073.3_Missense_Mutation_p.H114R			Q96C55	ZN524_HUMAN	zinc finger protein 524	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAGGCCCCACACTTCTGCCCG	0.647													7	17					0	0	0	0	G	56113819	A	G	56113819	3	3	408	1	0	0	0	0	1	0	0	0	18061	159	6	5	343	5	ZNF524	19	56113819	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	71143	56113819	3015164	3704	81522											
U2AF2	11338	broad.mit.edu	37	chr19	56185344	56185344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgactgccagaaagccatGcagggcctgacgggccgcaa	10	6	13	12	2	0	3	0	2	0	1	0	3	0	3	4	2	3	2	4	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56185344G>A	ENST00000450554.2	+	12	2285	c.1326G>A	c.(1324-1326)atG>atA	p.M442I	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.M278I|U2AF2_ENST00000308924.4_Missense_Mutation_p.M446I|CTD-2537I9.12_ENST00000585940.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	446	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGAAAGCCATGCAGGGCCTGA	0.562													28	117					0	0	0	0	A	56185344	G	A	56185344	3	1	408	1	0	0	0	0	1	0	0	0	16919	1319	46	4	1384	4	U2AF2	19	56185344	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	71525	56185344	2943639	3705	81523											
NLRP9	338321	broad.mit.edu	37	chr19	56244391	56244391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctaatgcaataaggagagagGattctggaagcatctttttt	13	13	10	5	0	2	1	0	0	2	1	2	5	2	4	0	3	2	2	0	3	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56244391G>A	ENST00000332836.2	-	2	833	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	269	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAGGAGAGAGGATTCTGGAAG	0.408													11	69					0	0	0	0	A	56244391	G	A	56244391	3	1	408	1	0	0	0	0	1	0	0	0	10554	1174	41	2	2201	2	NLRP9	19	56244391	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	59047	56244391	2884592	3706	81524											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733136	56733136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagggcttctcccctgtgtgGcttctcttgtgacacttcaa	6	14	9	12	0	3	1	1	1	2	0	5	1	3	1	2	2	0	2	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56733136G>C	ENST00000587340.1	-	7	1994	c.1299C>G	c.(1297-1299)agC>agG	p.S433R	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S316R|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S433R|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S432R|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S287R			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	433					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCCTGTGTGGCTTCTCTTGT	0.537													4	54					0	0	0	0	C	56733136	G	C	56733136	3	2	408	1	0	0	0	0	1	0	0	0	18329	1194	42	4	195	4	ZSCAN5A	19	56733136	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	488745	56733136	2395847	3707	81525											
ZNF667	63934	broad.mit.edu	37	chr19	56953025	56953025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgaaaactttactacattTattgcatttgaaaggtttct	12	16	6	7	1	1	1	0	1	1	0	1	2	1	1	1	1	4	2	1	1	6	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56953025T>C	ENST00000504904.3	-	7	2058	c.1339A>G	c.(1339-1341)Aaa>Gaa	p.K447E	ZNF667_ENST00000342634.3_Missense_Mutation_p.K575E|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.K447E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TTACTACATTTATTGCATTTG	0.353													5	47					0	0	0	0	C	56953025	T	C	56953025	3	2	408	1	0	0	0	0	1	0	0	0	18169	1763	61	5	497	5	ZNF667	19	56953025	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	219889	56953025	2175958	3708	81526											
ZNF264	9422	broad.mit.edu	37	chr19	57705383	57705384	+	Frame_Shift_Ins	INS	-	-	C																															ctctgggtaaggccttccttINSccccctccaccatgcaggtg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:57705383_57705384insC	ENST00000599653.1	+	2	551_552	c.174_175insC	c.(172-177)ctccccfs	p.LP58fs	ZNF264_ENST00000263095.6_Intron|ZNF264_ENST00000600531.1_Intron|ZNF264_ENST00000536056.1_Intron			O43296	ZN264_HUMAN	zinc finger protein 264	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGGCCTTCCTTCCCCCTCCACC	0.579													22	105	---	---	---	---					C	57705384	-	C	57705383	7	5	408	1	0	1	1	0	0	0	0	0	17899	1798	62	0		0	ZNF264	19	57705383	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	752358	57705383	1423600	3709	81527											
ZNF543	125919	broad.mit.edu	37	chr19	57839316	57839316	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggggtcagatgatggTgtatgtacaaagattacaca	12	12	13	4	0	1	3	1	1	0	2	1	3	1	3	0	4	2	3	0	4	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:57839316T>C	ENST00000321545.4	+	4	831	c.486T>C	c.(484-486)ggT>ggC	p.G162G		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGATGATGGTGTATGTACAA	0.443													5	101					0	0	0	0	C	57839316	T	C	57839316	2	2	408	1	0	0	0	0	0	0	0	1	18071	1683	59	5		5	ZNF543	19	57839316	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	133933	57839316	1289667	3710	81528											
ZNF749	388567	broad.mit.edu	37	chr19	57954687	57954687	+	Frame_Shift_Del	DEL	G	G	-																															catggagccaaggatgaggaGgtaccttccaagcagtgtgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:57954687delG	ENST00000334181.4	+	3	421	c.171delG	c.(169-171)gafs	p.E57fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGGATGAGGAGGTACCTTCCA	0.512													17	59	---	---	---	---					-	57954687	G	-	57954687	7	5	408	1	0	1	0	1	0	0	0	0	18225	991	35	0	181	0	ZNF749	19	57954687	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	115371	57954687	1174296	3711	81529											
ZNF749	388567	broad.mit.edu	37	chr19	57955220	57955220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtggggaattgtttaggtAcaactccaaccttattaaat	13	14	8	6	0	0	0	0	0	0	0	1	1	1	1	2	3	3	2	2	3	8	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:57955220A>G	ENST00000334181.4	+	3	954	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTGTTTAGGTACAACTCCAAC	0.418													17	67					0	0	0	0	G	57955220	A	G	57955220	3	3	408	1	0	0	0	0	1	0	0	0	18225	391	14	5	714	5	ZNF749	19	57955220	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	533	57955220	1173763	3712	81530											
ZNF773	374928	broad.mit.edu	37	chr19	58018055	58018055	+	Frame_Shift_Del	DEL	A	A	-																															acaaatgcagtgaatgtgggAaagcctttggtcagaaatat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58018055delA	ENST00000282292.4	+	4	732	c.592delA	c.(592-594)aafs	p.K198fs	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Frame_Shift_Del_p.K197fs	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGAATGTGGGAAAGCCTTTGG	0.453													29	74	---	---	---	---					-	58018055	A	-	58018055	7	5	408	1	0	1	0	1	0	0	0	0	18239	247	9	0	606	0	ZNF773	19	58018055	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	62835	58018055	1110928	3713	81531											
ZNF211	10520	broad.mit.edu	37	chr19	58145234	58145234	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatttttccaaggccacAcaactggtgagaggcagcac	13	8	10	10	0	0	1	0	1	0	1	1	3	1	1	2	3	2	2	2	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58145234A>G	ENST00000544273.1	+	2	375	c.48A>G	c.(46-48)acA>acG	p.T16T	ZNF211_ENST00000240731.4_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000299871.5_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000347302.3_Intron			Q13398	ZN211_HUMAN	zinc finger protein 211	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ccaaggccacacaactggtga	0.522													5	27					0	0	0	0	G	58145234	A	G	58145234	2	3	408	1	0	0	0	0	0	0	0	1	17862	174	6	5		5	ZNF211	19	58145234	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	127179	58145234	983749	3714	81532											
ZNF417	147687	broad.mit.edu	37	chr19	58420945	58420945	+	Frame_Shift_Del	DEL	A	A	-																															cataacatccatctctagtgAaaagtttctggtgtggaata																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58420945delA	ENST00000312026.5	-	3	865	c.701delT	c.(700-702)tcfs	p.F234fs	ZNF417_ENST00000595559.1_Frame_Shift_Del_p.F233fs|ZNF417_ENST00000536263.1_Frame_Shift_Del_p.F35fs|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ATCTCTAGTGAAAAGTTTCTG	0.428													24	114	---	---	---	---					-	58420945	A	-	58420945	7	5	408	1	0	1	0	1	0	0	0	0	17989	246	9	0	1030	0	ZNF417	19	58420945	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	275711	58420945	708038	3715	81533											
ZNF418	147686	broad.mit.edu	37	chr19	58439140	58439140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctcaacactgcttctatAgggtttctctccaaggtact	8	15	6	12	0	3	0	1	0	2	0	6	0	5	0	2	2	3	3	2	2	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58439140A>G	ENST00000396147.1	-	4	700	c.409T>C	c.(409-411)Tat>Cat	p.Y137H	ZNF418_ENST00000599852.1_Missense_Mutation_p.Y52H|ZNF418_ENST00000425570.3_Missense_Mutation_p.Y158H|ZNF418_ENST00000595830.1_Missense_Mutation_p.Y137H|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTGCTTCTATAGGGTTTCTCT	0.443													20	211					0	0	0	0	G	58439140	A	G	58439140	3	3	408	1	0	0	0	0	1	0	0	0	17990	420	15	5	1625	5	ZNF418	19	58439140	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	18195	58439140	689843	3716	81534											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596148	58596148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcttcgcgggtggaCggttgggggccccgggcgcc	1	6	21	13	5	0	0	0	0	0	0	1	1	0	1	4	7	0	2	4	7	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58596148C>T	ENST00000240727.6	-	7	1836	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	ZSCAN18_ENST00000601144.1_Silent_p.P479P|ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000421612.2_Silent_p.P343P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGTGGACGGTTGGGGGC	0.726													6	15					0	0	0	0	T	58596148	C	T	58596148	2	4	408	1	0	0	0	0	0	0	0	1	18322	523	19	1		1	ZSCAN18	19	58596148	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	157008	58596148	532835	3717	81535											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596693	58596693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcaggcagcacccccgCgggggcggcctcctcgcagg	5	3	15	18	4	1	0	1	0	0	0	3	0	2	0	4	5	2	4	4	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58596693C>T	ENST00000240727.6	-	7	1291	c.892G>A	c.(892-894)Gcg>Acg	p.A298T	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A298T|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A354T|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A162T	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCACCCCCGCGGGGGCGGCC	0.736													13	25					0	0	0	0	T	58596693	C	T	58596693	3	4	408	1	0	0	0	0	1	0	0	0	18322	768	27	1	644	1	ZSCAN18	19	58596693	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	545	58596693	532290	3718	81536											
ZNF584	201514	broad.mit.edu	37	chr19	58928590	58928590	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggaaacaccagaaggtTcacacaggcataaaaccttt	16	7	8	10	0	1	2	1	1	0	1	1	3	1	3	2	3	2	2	2	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58928590T>C	ENST00000306910.4	+	4	1228	c.705T>C	c.(703-705)gtT>gtC	p.V235V	ZNF584_ENST00000593920.1_Silent_p.V190V|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACCAGAAGGTTCACACAGGCA	0.458													18	63					0	0	0	0	C	58928590	T	C	58928590	2	2	408	1	0	0	0	0	0	0	0	1	18111	1770	62	5		5	ZNF584	19	58928590	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	331897	58928590	200393	3719	81537											
ZNF324	25799	broad.mit.edu	37	chr19	58980561	58980561	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggaccagatggccttTgaggatgtggctgtgtactt	7	15	13	6	0	0	2	0	1	0	1	0	4	0	4	2	4	1	2	2	4	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58980561T>C	ENST00000536459.2	+	2	718	c.9T>C	c.(7-9)ttT>ttC	p.F3F	ZNF324_ENST00000196482.3_Silent_p.F3F			O75467	Z324A_HUMAN	zinc finger protein 324	3	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGATGGCCTTTGAGGATGTGG	0.562													4	106					0	0	0	0	C	58980561	T	C	58980561	2	2	408	1	0	0	0	0	0	0	0	1	17939	1809	63	5		5	ZNF324	19	58980561	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	51971	58980561	148422	3720	81538											
SLC27A5	10998	broad.mit.edu	37	chr19	59022657	59022657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtccaccaccagcacccgGgccccagagctcagcacaga	10	2	11	18	1	1	2	1	0	0	2	2	2	2	2	6	2	3	3	6	2	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:59022657G>T	ENST00000263093.2	-	1	775	c.666C>A	c.(664-666)gcC>gcA	p.A222A	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	222					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCAGCACCCGGGCCCCAGAGC	0.672													21	37					3.6726e-16	3.85282e-16	1	0	T	59022657	G	T	59022657	2	4	408	1	0	0	0	0	0	0	0	1	14617	1219	43	4		4	SLC27A5	19	59022657	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	42096	59022657	106326	3721	81539											
MZF1	7593	broad.mit.edu	37	chr19	59074233	59074233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaggaggggccgggggctTagcgccagggcccgggggat	6	3	21	11	3	0	0	0	0	0	0	0	2	0	2	4	8	1	1	4	8	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:59074233T>C	ENST00000215057.2	-	6	1971	c.1411A>G	c.(1411-1413)Aag>Gag	p.K471E	MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.K471E|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	471	Gly/Pro-rich.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCGGGGGCTTAGCGCCAGGG	0.726													5	9					0	0	0	0	C	59074233	T	C	59074233	3	2	408	1	0	0	0	0	1	0	0	0	10178	1763	61	5	797	5	MZF1	19	59074233	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	51576	59074233	54750	3722	81540											
ZCCHC3	85364	broad.mit.edu	37	chr20	279084	279084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgctggccgtgccggtgaAagtgaccgacaggtttggga	7	8	17	9	4	0	2	0	2	0	0	0	4	0	3	3	4	2	2	3	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:279084A>G	ENST00000382352.3	+	1	1348	c.857A>G	c.(856-858)aAa>aGa	p.K286R		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	286							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GTGCCGGTGAAAGTGACCGAC	0.617													9	152					0	0	0	0	G	279084	A	G	279084	3	3	408	1	0	0	0	0	1	0	0	0	17684	14	1	5	859	5	ZCCHC3	20	279084	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08		279084	62746436	3723	81541											
TBC1D20	128637	broad.mit.edu	37	chr20	419433	419433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccgcagcaccatatcagGcctctgctgggctgatgcca	7	8	11	15	1	2	1	1	1	1	0	2	1	2	1	4	2	4	4	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:419433G>A	ENST00000354200.4	-	8	1156	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	337					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				ACCATATCAGGCCTCTGCTGG	0.537													29	107					0	0	0	0	A	419433	G	A	419433	3	1	408	1	0	0	0	0	1	0	0	0	15700	1203	42	4	206	4	TBC1D20	20	419433	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	140349	419433	62606087	3724	81542											
SNPH	9751	broad.mit.edu	37	chr20	1286147	1286147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccagctgcatgcaggagCgtgccatccagacagacttc	10	6	12	13	1	0	2	0	0	0	2	2	3	1	3	3	2	5	3	3	2	0	1	rs151069955		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:1286147C>T	ENST00000381867.1	+	7	1708	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	SNPH_ENST00000381873.3_Missense_Mutation_p.R312C			O15079	SNPH_HUMAN	syntaphilin	312					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGCAGGAGCGTGCCATCCA	0.622													25	103					0	0	0	0	T	1286147	C	T	1286147	3	4	408	1	0	0	0	0	1	0	0	0	14938	768	27	1	948	1	SNPH	20	1286147	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	866714	1286147	61739373	3725	81543											
TGM6	343641	broad.mit.edu	37	chr20	2376055	2376055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accggaggctgggcgagtttGttctccttttcaacccatgg	6	12	12	11	2	2	0	1	0	1	0	3	2	2	1	3	4	1	3	3	4	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2376055G>A	ENST00000202625.2	+	3	458	c.397G>A	c.(397-399)Gtt>Att	p.V133I	TGM6_ENST00000381423.1_Missense_Mutation_p.V133I|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	133					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGGCGAGTTTGTTCTCCTTTT	0.567													49	142					0	0	0	0	A	2376055	G	A	2376055	3	1	408	1	0	0	0	0	1	0	0	0	15928	1377	48	4	407	4	TGM6	20	2376055	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1089908	2376055	60649465	3726	81544											
TGM6	343641	broad.mit.edu	37	chr20	2377243	2377243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaggcgtggagaagcacatAcgagcccagggctggaacta	12	4	15	10	3	0	1	0	0	0	1	0	5	0	2	1	4	4	2	1	4	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2377243A>G	ENST00000202625.2	+	4	577	c.516A>G	c.(514-516)atA>atG	p.I172M	TGM6_ENST00000381423.1_Missense_Mutation_p.I172M|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	172					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGAAGCACATACGAGCCCAGG	0.617													17	36					0	0	0	0	G	2377243	A	G	2377243	3	3	408	1	0	0	0	0	1	0	0	0	15928	381	14	5	530	5	TGM6	20	2377243	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1188	2377243	60648277	3727	81545											
CPXM1	56265	broad.mit.edu	37	chr20	2776744	2776744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgttgaggtcagcaaaatTatggttaagatcgatgctct	11	14	11	5	1	2	2	1	1	1	1	3	3	2	2	0	2	2	4	0	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2776744T>C	ENST00000380605.2	-	10	1370	c.1306A>G	c.(1306-1308)Aat>Gat	p.N436D		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	436					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAGCAAAATTATGGTTAAGA	0.577													24	95					0	0	0	0	C	2776744	T	C	2776744	3	2	408	1	0	0	0	0	1	0	0	0	3867	1754	61	5	918	5	CPXM1	20	2776744	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	399501	2776744	60248776	3728	81546											
C20orf141	128653	broad.mit.edu	37	chr20	2796271	2796271	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggacagcaggaggcTctactcctgcaaatgggtac	9	8	13	11	0	1	0	0	0	1	0	3	2	3	2	2	5	4	4	2	5	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2796271T>C	ENST00000380589.4	+	2	522	c.348T>C	c.(346-348)gcT>gcC	p.A116A	TMEM239_ENST00000554164.1_Intron|C20orf141_ENST00000603872.1_Silent_p.A116A|TMEM239_ENST00000380593.4_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	116	Leu-rich.					integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						AGCAGGAGGCTCTACTCCTGC	0.627													12	43					0	0	0	0	C	2796271	T	C	2796271	2	2	408	1	0	0	0	0	0	0	0	1	2109	1538	54	5		5	C20orf141	20	2796271	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	19527	2796271	60229249	3729	81547											
VPS16	64601	broad.mit.edu	37	chr20	2841160	2841160	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttggttccggagtggcCatcctcacaggggcccaccg	6	8	14	13	2	1	0	1	0	0	0	3	2	3	1	5	5	0	2	5	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2841160C>A	ENST00000380445.3	+	5	507	c.435C>A	c.(433-435)gcC>gcA	p.A145A	VPS16_ENST00000380469.3_Silent_p.A145A	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	145					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGGAGTGGCCATCCTCACAG	0.607													22	74					1.28384e-07	1.31923e-07	1	0	A	2841160	C	A	2841160	2	1	408	1	0	0	0	0	0	0	0	1	17289	581	21	4		4	VPS16	20	2841160	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	44889	2841160	60184360	3730	81548											
SLC4A11	83959	broad.mit.edu	37	chr20	3210407	3210407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtccaagtaatgcccatagTagtacttccagaagactgtg	12	10	9	10	1	0	2	0	0	0	2	2	2	2	2	3	0	2	3	3	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:3210407T>C	ENST00000380059.3	-	14	1735	c.1634A>G	c.(1633-1635)tAc>tGc	p.Y545C	SLC4A11_ENST00000539553.1_Missense_Mutation_p.Y502C|SLC4A11_ENST00000380056.3_Missense_Mutation_p.Y518C|SLC4A11_ENST00000474451.1_Intron	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	518	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.Y518C(1)|p.Y545C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						ATGCCCATAGTAGTACTTCCA	0.597													26	96					0	0	0	0	C	3210407	T	C	3210407	3	2	408	1	0	0	0	0	1	0	0	0	14740	1638	57	5	1150	5	SLC4A11	20	3210407	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	369247	3210407	59815113	3731	81549											
SLC4A11	83959	broad.mit.edu	37	chr20	3212165	3212165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggtggcaaacgtgcgCgccacctccatcgcagtctt	9	8	10	14	4	1	0	0	0	1	0	3	0	2	0	3	2	3	2	3	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:3212165C>T	ENST00000380059.3	-	8	989	c.888G>A	c.(886-888)gcG>gcA	p.A296A	SLC4A11_ENST00000539553.1_Silent_p.A253A|SLC4A11_ENST00000380056.3_Silent_p.A269A|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	269					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CAAACGTGCGCGCCACCTCCA	0.602													30	89					0	0	0	0	T	3212165	C	T	3212165	2	4	408	1	0	0	0	0	0	0	0	1	14740	755	27	1		1	SLC4A11	20	3212165	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1758	3212165	59813355	3732	81550											
PRNP	5621	broad.mit.edu	37	chr20	4680489	4680489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgttaagatgatggagcGcgtggttgagcagatgtgta	10	10	16	5	4	0	4	0	2	0	2	0	6	0	5	0	2	2	4	0	2	2	3	rs74315412		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:4680489G>A	ENST00000379440.4	+	2	910	c.623G>A	c.(622-624)cGc>cAc	p.R208H	PRNP_ENST00000430350.2_Missense_Mutation_p.R208H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	208	Interaction with GRB2, ERI3 and SYN1 (By similarity).		R -> H (in CJD).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	ATGATGGAGCGCGTGGTTGAG	0.527													13	64					0	0	0	0	A	4680489	G	A	4680489	3	1	408	1	0	0	0	0	1	0	0	0	12624	1087	38	1	625	1	PRNP	20	4680489	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1468324	4680489	58345031	3733	81551											
SLC23A2	9962	broad.mit.edu	37	chr20	4864378	4864378	+	Frame_Shift_Del	DEL	A	A	-																															ccaccgtgggtgtaatggtcAagggaccgatgtacttcagt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:4864378delA	ENST00000379333.1	-	9	1126	c.734delT	c.(733-735)tgfs	p.L245fs	SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.L245fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	245					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGTAATGGTCAAGGGACCGAT	0.577													20	93	---	---	---	---					-	4864378	A	-	4864378	7	5	408	1	0	1	0	1	0	0	0	0	14551	131	5	0	1254	0	SLC23A2	20	4864378	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	183889	4864378	58161142	3734	81552											
PROKR2	128674	broad.mit.edu	37	chr20	5294896	5294896	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcttggtcatgtcctcAtcctcatccatagggaggtc	6	12	11	12	1	4	0	3	0	1	0	8	1	7	1	3	4	0	0	3	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:5294896A>G	ENST00000546004.1	-	2	366	c.120T>C	c.(118-120)gaT>gaC	p.D40D	PROKR2_ENST00000217270.3_Silent_p.D40D			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	40						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCATGTCCTCATCCTCATCCA	0.507										HNSCC(71;0.22)			43	118					0	0	0	0	G	5294896	A	G	5294896	2	3	408	1	0	0	0	0	0	0	0	1	12633	214	8	5		5	PROKR2	20	5294896	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	430518	5294896	57730624	3735	81553											
GPCPD1	56261	broad.mit.edu	37	chr20	5528364	5528364	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggatatcagactccccAcacaaagatgagggaacaaa	18	5	8	10	0	1	3	1	1	0	2	2	5	2	5	2	2	1	0	2	2	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:5528364A>G	ENST00000379019.4	-	20	2174	c.1962T>C	c.(1960-1962)tgT>tgC	p.C654C	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	654					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						CAGACTCCCCACACAAAGATG	0.483													58	144					0	0	0	0	G	5528364	A	G	5528364	2	3	408	1	0	0	0	0	0	0	0	1	6652	157	6	5		5	GPCPD1	20	5528364	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	233468	5528364	57497156	3736	81554											
TRMT6	51605	broad.mit.edu	37	chr20	5924869	5924869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcttgtctcggaatgttgTactattttcaattaactgct	8	19	7	7	1	3	0	1	0	2	0	4	1	3	1	0	1	3	3	0	1	5	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:5924869T>C	ENST00000203001.2	-	4	527	c.397A>G	c.(397-399)Aca>Gca	p.T133A	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	133					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CGGAATGTTGTACTATTTTCA	0.284													5	24					0	0	0	0	C	5924869	T	C	5924869	3	2	408	1	0	0	0	0	1	0	0	0	16663	1638	57	5	1128	5	TRMT6	20	5924869	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	396505	5924869	57100651	3737	81555											
FERMT1	55612	broad.mit.edu	37	chr20	6077679	6077679	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgacagtttgctaatgtggTactaaaatgaaaacagacgt	16	10	9	6	2	0	2	0	1	0	1	0	3	0	2	0	1	3	3	0	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:6077679T>C	ENST00000217289.4	-	8	1747	c.957_splice	c.e8-1	p.Y320_splice	FERMT1_ENST00000536936.1_Splice_Site_p.Y63_splice	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	320	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTAATGTGGTACTAAAATGA	0.358													26	235					0	0	0	0	C	6077679	T	C	6077679	5	2	408	1	0	0	0	0	0	0	1	0	5862	1652	57	5	1106	5	FERMT1	20	6077679	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	152810	6077679	56947841	3738	81556											
BMP2	650	broad.mit.edu	37	chr20	6759038	6759038	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgctttaggaaacaatAgcagtttccatcaccgaatt	15	11	7	8	1	1	1	1	0	0	1	2	3	2	2	2	1	3	3	2	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:6759038A>G	ENST00000378827.4	+	3	1712	c.493A>G	c.(493-495)Agc>Ggc	p.S165G		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	165					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AGGAAACAATAGCAGTTTCCA	0.408													20	52					0	0	0	0	G	6759038	A	G	6759038	3	3	408	1	0	0	0	0	1	0	0	0	1464	420	15	5	499	5	BMP2	20	6759038	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	681359	6759038	56266482	3739	81557											
PLCB4	5332	broad.mit.edu	37	chr20	9364867	9364867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccttatatcaagtgatggGttttgcagatatctgatgtc	9	15	11	6	0	2	3	1	2	1	1	3	3	2	3	1	2	1	2	1	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:9364867G>A	ENST00000378501.2	+	11	888	c.873G>A	c.(871-873)ggG>ggA	p.G291G	PLCB4_ENST00000334005.3_Silent_p.G291G|PLCB4_ENST00000378473.3_Silent_p.G291G|PLCB4_ENST00000414679.2_Silent_p.G291G|PLCB4_ENST00000378493.1_Silent_p.G291G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.G291G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	291					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						CAAGTGATGGGTTTTGCAGAT	0.418													23	86					0	0	0	0	A	9364867	G	A	9364867	2	1	408	1	0	0	0	0	0	0	0	1	12102	1248	44	4		4	PLCB4	20	9364867	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2605829	9364867	53660653	3740	81558											
SNAP25	6616	broad.mit.edu	37	chr20	10280057	10280057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgacaggatcatggaGaaggtgagcacgtggcagtc	12	6	15	8	2	1	3	1	1	0	2	3	6	1	4	0	4	1	2	0	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:10280057G>T	ENST00000254976.2	+	7	760	c.549G>T	c.(547-549)gaG>gaT	p.E183D	SNAP25_ENST00000304886.2_Missense_Mutation_p.E183D|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	183	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGATCATGGAGAAGGTGAGCA	0.522													5	53					0.000602214	0.000609374	1	0	T	10280057	G	T	10280057	3	4	408	1	0	0	0	0	1	0	0	0	14918	933	33	2	693	2	SNAP25	20	10280057	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	915190	10280057	52745463	3741	81559											
BTBD3	22903	broad.mit.edu	37	chr20	11903761	11903761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgctgcacagtccggggTattaactctcaatgagacca	10	10	11	10	1	1	1	1	1	1	1	3	2	2	1	2	3	3	3	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:11903761T>C	ENST00000405977.1	+	5	1641	c.1016T>C	c.(1015-1017)gTa>gCa	p.V339A	BTBD3_ENST00000399006.2_Missense_Mutation_p.V278A|BTBD3_ENST00000254977.3_Missense_Mutation_p.V278A|BTBD3_ENST00000378226.2_Missense_Mutation_p.V339A			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	339										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CAGTCCGGGGTATTAACTCTC	0.473													6	151					0	0	0	0	C	11903761	T	C	11903761	3	2	408	1	0	0	0	0	1	0	0	0	1553	1638	57	5	1030	5	BTBD3	20	11903761	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1623704	11903761	51121759	3742	81560											
SPTLC3	55304	broad.mit.edu	37	chr20	13098206	13098206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagctctaaagaagaaatAcaaggcttacctctacatag	17	9	6	9	0	2	2	0	0	2	2	2	2	2	2	1	1	4	2	1	1	10	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:13098206A>G	ENST00000399002.2	+	8	1260	c.986A>G	c.(985-987)tAc>tGc	p.Y329C	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	329					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGAAGAAATACAAGGCTTAC	0.502													58	184					0	0	0	0	G	13098206	A	G	13098206	3	3	408	1	0	0	0	0	1	0	0	0	15215	391	14	5	1016	5	SPTLC3	20	13098206	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1194445	13098206	49927314	3743	81561											
TASP1	55617	broad.mit.edu	37	chr20	13550198	13550198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagggtattccatgatctActgcccatctgtaggctcct	9	12	9	11	0	2	2	0	1	2	1	4	2	4	2	3	2	2	3	3	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:13550198A>G	ENST00000337743.4	-	7	644	c.524T>C	c.(523-525)gTa>gCa	p.V175A	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	175					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TCCATGATCTACTGCCCATCT	0.318													14	38					0	0	0	0	G	13550198	A	G	13550198	3	3	408	1	0	0	0	0	1	0	0	0	15680	391	14	5	770	5	TASP1	20	13550198	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	451992	13550198	49475322	3744	81562											
KIF16B	55614	broad.mit.edu	37	chr20	16478291	16478291	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgaagtttttcctccatActtaaagctgtgggggagtc	8	14	11	8	0	0	1	0	1	0	0	3	2	2	2	2	2	3	3	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:16478291A>T	ENST00000354981.2	-	11	1366	c.1209T>A	c.(1207-1209)agT>agA	p.S403R	KIF16B_ENST00000355755.3_Missense_Mutation_p.S403R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.S403R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	403					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTCCTCCATACTTAAAGCTG	0.303													7	56					0	0	0	0	T	16478291	A	T	16478291	3	4	408	1	0	0	0	0	1	0	0	0	8329	388	14	5	2808	5	KIF16B	20	16478291	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2928093	16478291	46547229	3745	81563											
SEC23B	10483	broad.mit.edu	37	chr20	18523805	18523805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggtggctggaccgacaaCtcatccgactggtaaattgg	9	9	12	11	3	1	0	1	0	0	0	3	3	3	1	3	5	1	2	3	5	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:18523805C>T	ENST00000336714.3	+	14	2086	c.1654C>T	c.(1654-1656)Ctc>Ttc	p.L552F	SEC23B_ENST00000377465.1_Missense_Mutation_p.L552F|SEC23B_ENST00000377475.3_Missense_Mutation_p.L552F|SEC23B_ENST00000262544.2_Missense_Mutation_p.L552F	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	552					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGACCGACAACTCATCCGACT	0.502													37	137					0	0	0	0	T	18523805	C	T	18523805	3	4	408	1	0	0	0	0	1	0	0	0	14079	565	20	4	1704	4	SEC23B	20	18523805	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2045514	18523805	44501715	3746	81564											
NKX2-4	644524	broad.mit.edu	37	chr20	21376835	21376835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggcggcgggcccaggccgCcctcctgctgcagctgctgc	2	5	16	18	4	0	0	0	0	0	0	1	0	1	0	4	4	5	4	4	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:21376835C>T	ENST00000351817.4	-	2	1407	c.779G>A	c.(778-780)gGc>gAc	p.G260D		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	260					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						gcccaggccgcccTCCTGCTG	0.711													4	6					0	0	0	0	T	21376835	C	T	21376835	3	4	408	1	0	0	0	0	1	0	0	0	10522	739	26	4	289	4	NKX2-4	20	21376835	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2853030	21376835	41648685	3747	81565											
PAX1	5075	broad.mit.edu	37	chr20	21687091	21687091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagcagacgtatggcgAggtgaaccagctgggcggtg	9	5	18	9	4	0	3	0	1	0	2	0	4	0	3	1	4	3	4	1	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:21687091A>T	ENST00000398485.2	+	2	356	c.302A>T	c.(301-303)gAg>gTg	p.E101V	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.E77V	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	101	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACGTATGGCGAGGTGAACCAG	0.672													17	75					0	0	0	0	T	21687091	A	T	21687091	3	4	408	1	0	0	0	0	1	0	0	0	11549	304	11	5	308	5	PAX1	20	21687091	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	310256	21687091	41338429	3748	81566											
GGTLC1	92086	broad.mit.edu	37	chr20	23966824	23966824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcccgctgactggggagcGcaccttggagccaaagctat	9	7	13	12	2	0	1	0	1	0	0	1	4	1	3	3	3	3	3	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:23966824G>A	ENST00000335694.4	-	3	397	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	GGTLC1_ENST00000286890.4_Missense_Mutation_p.R65C|GGTLC1_ENST00000278765.4_Missense_Mutation_p.R65C	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	65							gamma-glutamyltransferase activity	p.R65C(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						ACTGGGGAGCGCACCTTGGAG	0.572													31	88					0	0	0	0	A	23966824	G	A	23966824	3	1	408	1	0	0	0	0	1	0	0	0	6416	1087	38	1	500	1	GGTLC1	20	23966824	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2279733	23966824	39058696	3749	81567											
ACSS1	84532	broad.mit.edu	37	chr20	25004174	25004174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccaccaggacatgctgCacggtggggcagtgcttcac	8	7	14	12	1	1	1	1	1	0	0	1	2	1	2	2	4	4	4	2	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:25004174C>T	ENST00000537502.1	-	2	2017	c.486G>A	c.(484-486)gtG>gtA	p.V162V	ACSS1_ENST00000432802.2_Silent_p.V245V|ACSS1_ENST00000323482.4_Silent_p.V245V|ACSS1_ENST00000542618.1_Silent_p.V124V			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	245					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGACATGCTGCACGGTGGGGC	0.577													8	35					0	0	0	0	T	25004174	C	T	25004174	2	4	408	1	0	0	0	0	0	0	0	1	188	697	25	4		4	ACSS1	20	25004174	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1037350	25004174	38021346	3750	81568											
PYGB	5834	broad.mit.edu	37	chr20	25269070	25269070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtcctgcaggaatcaagaGagacccggccaaggcttttg	10	8	13	10	1	1	2	1	0	0	2	2	4	2	3	3	3	1	2	3	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:25269070G>C	ENST00000216962.4	+	15	1888	c.1778G>C	c.(1777-1779)aGa>aCa	p.R593T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	593					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGAATCAAGAGAGACCCGGCC	0.602													35	127					0	0	0	0	C	25269070	G	C	25269070	3	2	408	1	0	0	0	0	1	0	0	0	12942	942	33	2	1836	2	PYGB	20	25269070	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	264896	25269070	37756450	3751	81569											
PYGB	5834	broad.mit.edu	37	chr20	25271252	25271252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actaccgtgtgtccttggctGagaaaggtaaccctggaagc	10	9	12	10	1	0	1	0	1	0	1	1	3	1	2	3	3	3	2	3	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:25271252G>A	ENST00000216962.4	+	16	2073	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	655					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GTCCTTGGCTGAGAAAGGTAA	0.557													37	166					0	0	0	0	A	25271252	G	A	25271252	3	1	408	1	0	0	0	0	1	0	0	0	12942	1291	45	2	2025	2	PYGB	20	25271252	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2182	25271252	37754268	3752	81570											
MYLK2	85366	broad.mit.edu	37	chr20	30411359	30411359	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtcagcagtgaattcagTatgaactccaaggaggcgct	13	9	11	8	1	2	2	2	2	0	0	3	3	3	3	1	2	2	3	1	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:30411359T>C	ENST00000375994.2	+	4	1125	c.852T>C	c.(850-852)agT>agC	p.S284S	MYLK2_ENST00000375985.4_Silent_p.S284S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	284					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGAATTCAGTATGAACTCCA	0.617											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	152					0	0	0	0	C	30411359	T	C	30411359	2	2	408	1	0	0	0	0	0	0	0	1	10127	1635	57	5		5	MYLK2	20	30411359	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5140107	30411359	32614161	3753	81571											
POFUT1	23509	broad.mit.edu	37	chr20	30797914	30797914	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcacttcttgggctctctGgcatttgcaaagctgctaaa	9	13	9	10	0	3	0	1	0	2	0	4	1	3	0	0	2	3	5	0	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:30797914G>T	ENST00000375749.3	+	2	227	c.165G>T	c.(163-165)ctG>ctT	p.L55L	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000375730.3_Silent_p.L55L	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	55					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGGCTCTCTGGCATTTGCAA	0.552													50	154					1.07234e-20	1.13075e-20	1	0	T	30797914	G	T	30797914	2	4	408	1	0	0	0	0	0	0	0	1	12255	1335	47	4		4	POFUT1	20	30797914	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	386555	30797914	32227606	3754	81572											
CBFA2T2	9139	broad.mit.edu	37	chr20	32198968	32198968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgccacagagattcagcAatggtcctgcctcctccaca	10	7	7	17	1	1	1	1	0	0	1	4	2	4	1	6	1	2	1	6	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:32198968A>G	ENST00000346541.3	+	4	811	c.274A>G	c.(274-276)Aat>Gat	p.N92D	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N102D|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.N83D|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N63D|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N63D|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N92D|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N63D	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	92	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GAGATTCAGCAATGGTCCTGC	0.483													7	148					0	0	0	0	G	32198968	A	G	32198968	3	3	408	1	0	0	0	0	1	0	0	0	2722	130	5	5	322	5	CBFA2T2	20	32198968	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1401054	32198968	30826552	3755	81573											
E2F1	1869	broad.mit.edu	37	chr20	32266051	32266051	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaggcgcagctgcgtagtAcagatattcatcaggtggtc	10	9	13	9	2	2	1	2	0	0	1	3	1	2	1	0	3	4	5	0	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:32266051A>G	ENST00000343380.5	-	4	820	c.681T>C	c.(679-681)tgT>tgC	p.C227C		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	227	Dimerization (Potential).|Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTGCGTAGTACAGATATTCA	0.622													20	36					0	0	0	0	G	32266051	A	G	32266051	2	3	408	1	0	0	0	0	0	0	0	1	4902	389	14	5		5	E2F1	20	32266051	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	67083	32266051	30759469	3756	81574											
ZNF341	84905	broad.mit.edu	37	chr20	32328785	32328785	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgatccgacaggccagAgtgtcaatgcgccccctgct	7	8	10	16	2	1	2	1	1	0	1	3	3	3	2	5	1	2	1	5	1	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:32328785A>T	ENST00000375200.1	+	2	474	c.109A>T	c.(109-111)Agt>Tgt	p.S37C	ZNF341_ENST00000342427.2_Missense_Mutation_p.S37C			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GACAGGCCAGAGTGTCAATGC	0.552													6	104					0	0	0	0	T	32328785	A	T	32328785	3	4	408	1	0	0	0	0	1	0	0	0	17952	304	11	5	115	5	ZNF341	20	32328785	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	62734	32328785	30696735	3757	81575											
ZNF341	84905	broad.mit.edu	37	chr20	32371563	32371563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtgaacgctacctgcGgcgtcatctgcccacccacg	6	9	9	17	4	2	1	1	1	1	0	3	1	3	1	4	1	4	1	4	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:32371563G>C	ENST00000375200.1	+	12	2110	c.1745G>C	c.(1744-1746)cGg>cCg	p.R582P	ZNF341_ENST00000342427.2_Missense_Mutation_p.R575P			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGCTACCTGCGGCGTCATCTG	0.587													25	95					0	0	0	0	C	32371563	G	C	32371563	3	2	408	1	0	0	0	0	1	0	0	0	17952	1116	39	3	1770	3	ZNF341	20	32371563	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	42778	32371563	30653957	3758	81576											
TP53INP2	58476	broad.mit.edu	37	chr20	33296605	33296606	+	Frame_Shift_Ins	INS	-	-	C																															ccccccgaagaccccgactgINScccccgcgccttcgtgtcgg																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33296605_33296606insC	ENST00000374810.3	+	3	451_452	c.62_63insC	c.(61-63)tccfs	p.S21fs	TP53INP2_ENST00000374809.2_Frame_Shift_Ins_p.S21fs|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	21						nucleus				endometrium(1)|urinary_tract(1)	2						GACCCCGACTGCCCCCGCGCCT	0.668													11	32	---	---	---	---					C	33296606	-	C	33296605	7	5	408	1	0	1	1	0	0	0	0	0	16484	1319	46	0	64	0	TP53INP2	20	33296605	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	925042	33296605	29728915	3759	81577											
GGT7	2686	broad.mit.edu	37	chr20	33451197	33451197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaggccgtgacgatgacCgtgagcccatcctggcggca	9	5	14	13	4	0	4	0	3	0	1	1	5	1	4	4	3	1	1	4	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33451197C>T	ENST00000336431.5	-	2	368	c.324G>A	c.(322-324)acG>acA	p.T108T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	108					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGACGATGACCGTGAGCCCAT	0.672													13	36					0	0	0	0	T	33451197	C	T	33451197	2	4	408	1	0	0	0	0	0	0	0	1	6415	639	23	1		1	GGT7	20	33451197	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	154592	33451197	29574323	3760	81578											
GSS	2937	broad.mit.edu	37	chr20	33517351	33517351	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcactgtccttcagcTgtttcagggcctgtaccatt	5	15	7	14	0	4	0	3	0	1	0	6	0	5	0	4	1	2	3	4	1	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33517351T>C	ENST00000216951.2	-	12	1252	c.1154A>G	c.(1153-1155)cAg>cGg	p.Q385R	GSS_ENST00000541098.1_Missense_Mutation_p.Q257R|GSS_ENST00000451957.2_Missense_Mutation_p.Q274R	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	385					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GTCCTTCAGCTGTTTCAGGGC	0.562													8	361					0	0	0	0	C	33517351	T	C	33517351	3	2	408	1	0	0	0	0	1	0	0	0	6879	1580	55	5	278	5	GSS	20	33517351	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	66154	33517351	29508169	3761	81579											
MYH7B	57644	broad.mit.edu	37	chr20	33565879	33565879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaggagatgacgaaggTgcacactatcccatgggacg	12	6	12	11	2	0	2	0	1	0	1	1	5	1	3	2	3	2	1	2	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33565879T>C	ENST00000262873.7	+	3	289	c.197T>C	c.(196-198)gTg>gCg	p.V66A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	24						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ATGACGAAGGTGCACACTATC	0.592													31	90					0	0	0	0	C	33565879	T	C	33565879	3	2	408	1	0	0	0	0	1	0	0	0	10110	1696	59	5	207	5	MYH7B	20	33565879	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	48528	33565879	29459641	3762	81580											
MYH7B	57644	broad.mit.edu	37	chr20	33582100	33582100	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgggcagagctgcgggggTtgcgaggggcgctggctgcg	3	6	23	9	5	0	1	0	0	0	1	0	2	0	1	0	6	5	5	0	6	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33582100T>C	ENST00000262873.7	+	25	2814	c.2722T>C	c.(2722-2724)Ttg>Ctg	p.L908L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	866						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTGCGGGGGTTGCGAGGGGC	0.657													43	115					0	0	0	0	C	33582100	T	C	33582100	2	2	408	1	0	0	0	0	0	0	0	1	10110	1722	60	5		5	MYH7B	20	33582100	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	16221	33582100	29443420	3763	81581											
PROCR	10544	broad.mit.edu	37	chr20	33764535	33764535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgctcctacacttcgctggtCctgggcgtcctggtgggcag	3	10	14	14	3	0	0	0	0	0	0	4	0	3	0	3	4	1	3	3	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33764535C>T	ENST00000216968.4	+	4	718	c.636C>T	c.(634-636)gtC>gtT	p.V212V	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	212					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CTTCGCTGGTCCTGGGCGTCC	0.547													13	25					0	0	0	0	T	33764535	C	T	33764535	2	4	408	1	0	0	0	0	0	0	0	1	12627	842	30	2		2	PROCR	20	33764535	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	182435	33764535	29260985	3764	81582											
CEP250	11190	broad.mit.edu	37	chr20	34096009	34096009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caatgtccagctgcggagtaCcttggagcaggtgacccctc	8	8	12	13	1	0	1	0	1	0	0	2	3	1	3	4	3	4	3	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:34096009C>T	ENST00000397527.1	+	32	7616	c.6896C>T	c.(6895-6897)aCc>aTc	p.T2299I	CEP250_ENST00000342580.4_Missense_Mutation_p.T2243I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2299					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGCGGAGTACCTTGGAGCAG	0.572													46	138					0	0	0	0	T	34096009	C	T	34096009	3	4	408	1	0	0	0	0	1	0	0	0	3281	507	18	4	7010	4	CEP250	20	34096009	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	331474	34096009	28929511	3765	81583											
RBM39	9584	broad.mit.edu	37	chr20	34302199	34302199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtccaaaaatgaactaGcactcgaagcatcagtacgt	15	8	7	11	2	1	1	1	1	0	0	3	2	2	1	1	0	4	3	1	0	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:34302199G>A	ENST00000361162.6	-	11	1388	c.1004C>T	c.(1003-1005)gCt>gTt	p.A335V	RBM39_ENST00000253363.6_Missense_Mutation_p.A335V|RBM39_ENST00000528062.3_Missense_Mutation_p.A313V|RBM39_ENST00000407261.4_Missense_Mutation_p.A178V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	335	Activating domain (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AAATGAACTAGCACTCGAAGC	0.418													41	79					0	0	0	0	A	34302199	G	A	34302199	3	1	408	1	0	0	0	0	1	0	0	0	13215	971	34	4	616	4	RBM39	20	34302199	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	206190	34302199	28723321	3766	81584											
PHF20	51230	broad.mit.edu	37	chr20	34515747	34515747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggggtctgcatgggattaCtggaagaaaatgtgcccgag	11	9	15	6	1	1	1	0	0	1	1	1	4	1	3	1	4	3	1	1	4	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:34515747C>T	ENST00000374012.3	+	14	2179	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CATGGGATTACTGGAAGAAAA	0.438													5	191					0	0	0	0	T	34515747	C	T	34515747	2	4	408	1	0	0	0	0	0	0	0	1	11903	564	20	4		4	PHF20	20	34515747	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	213548	34515747	28509773	3767	81585											
DLGAP4	22839	broad.mit.edu	37	chr20	35128968	35128968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcggctggaaggctggtgCtgccagatggacaaggagac	10	5	18	8	1	0	2	0	0	0	2	0	6	0	4	1	6	3	3	1	6	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:35128968C>T	ENST00000373913.3	+	10	2937	c.2457C>T	c.(2455-2457)tgC>tgT	p.C819C	DLGAP4_ENST00000401952.2_Silent_p.C819C|DLGAP4_ENST00000373907.2_Silent_p.C822C|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.C283C|DLGAP4_ENST00000339266.5_Silent_p.C822C			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	822					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGGCTGGTGCTGCCAGATGG	0.602													29	95					0	0	0	0	T	35128968	C	T	35128968	2	4	408	1	0	0	0	0	0	0	0	1	4599	805	28	4		4	DLGAP4	20	35128968	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	613221	35128968	27896552	3768	81586											
BPI	671	broad.mit.edu	37	chr20	36952337	36952337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagtgatggagtttccCgctgcccatgaccgcatggt	7	9	11	14	2	0	2	0	2	0	0	1	3	1	3	5	2	1	3	5	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:36952337C>T	ENST00000262865.4	+	8	923	c.834C>T	c.(832-834)ccC>ccT	p.P278P	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	278					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537													4	72					0	0	0	0	T	36952337	C	T	36952337	2	4	408	1	0	0	0	0	0	0	0	1	1498	639	23	1		1	BPI	20	36952337	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1823369	36952337	26073183	3769	81587											
RALGAPB	57148	broad.mit.edu	37	chr20	37144935	37144935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccgcaagaattgaatcagTatccctgccttaaacatctg	12	11	7	11	1	2	2	1	1	1	1	3	2	3	2	3	0	3	2	3	0	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:37144935T>C	ENST00000262879.6	+	7	1257	c.973T>C	c.(973-975)Tat>Cat	p.Y325H	RALGAPB_ENST00000397042.3_Missense_Mutation_p.Y325H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Y325H|RALGAPB_ENST00000537204.1_Missense_Mutation_p.Y325H|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Y103H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	325					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATTGAATCAGTATCCCTGCCT	0.413													47	154					0	0	0	0	C	37144935	T	C	37144935	3	2	408	1	0	0	0	0	1	0	0	0	13097	1638	57	5	995	5	RALGAPB	20	37144935	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	192598	37144935	25880585	3770	81588											
RALGAPB	57148	broad.mit.edu	37	chr20	37146167	37146167	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtatttctagaccccgatCagacagtgctcccccaacac	11	8	7	15	1	2	2	1	0	1	2	3	3	3	2	4	1	2	2	4	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:37146167C>G	ENST00000262879.6	+	8	1354	c.1070C>G	c.(1069-1071)tCa>tGa	p.S357*	RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S357*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S357*|RALGAPB_ENST00000537204.1_Nonsense_Mutation_p.S357*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S135*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	357					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGACCCCGATCAGACAGTGCT	0.418													26	93					0	0	0	0	G	37146167	C	G	37146167	4	3	408	1	0	0	0	0	0	1	0	0	13097	838	29	2	1096	2	RALGAPB	20	37146167	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1232	37146167	25879353	3771	81589											
RALGAPB	57148	broad.mit.edu	37	chr20	37177336	37177336	+	Frame_Shift_Del	DEL	T	T	-																															acatattttattctagatgaTtttttcccctctgtcactgt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:37177336delT	ENST00000262879.6	+	20	3191	c.2907delT	c.(2905-2907)gafs	p.D969fs	RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.D965fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.D747fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.D969fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	969					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.F971fs*53(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTAGATGATTTTTTCCCCT	0.378													17	40	---	---	---	---					-	37177336	T	-	37177336	7	5	408	1	0	1	0	1	0	0	0	0	13097	1490	52	0	2981	0	RALGAPB	20	37177336	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	31169	37177336	25848184	3772	81590											
TOP1	7150	broad.mit.edu	37	chr20	39729957	39729957	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaacatccaaggttccatTaaatacatcatgcttaaccc	15	10	5	11	0	1	1	1	0	0	1	3	2	3	1	3	1	4	2	3	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:39729957T>C	ENST00000361337.2	+	13	1522	c.1272T>C	c.(1270-1272)atT>atC	p.I424I	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	424					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AAGGTTCCATTAAATACATCA	0.433			T	NUP98	AML*								18	48					0	0	0	0	C	39729957	T	C	39729957	2	2	408	1	0	0	0	0	0	0	0	1	16458	1742	61	5		5	TOP1	20	39729957	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2552621	39729957	23295563	3773	81591											
CHD6	84181	broad.mit.edu	37	chr20	40065975	40065975	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctttatctgtgttgcctCtaaataaaagtaaaaaaagg	15	14	6	6	0	3	0	0	0	3	0	3	0	3	0	1	1	1	2	1	1	9	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:40065975C>G	ENST00000373233.3	-	27	4185		c.e27-1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.?(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTGTTGCCTCTAAATAAAAG	0.398													16	40					0	0	0	0	G	40065975	C	G	40065975	5	3	408	1	0	0	0	0	0	0	1	0	3358	927	32	2	4184	2	CHD6	20	40065975	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	336018	40065975	22959545	3774	81592											
KCNK15	60598	broad.mit.edu	37	chr20	43378792	43378792	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacggccacgccgcgccgggTacggactccggcaaggtctt	6	6	14	15	7	1	0	0	0	1	0	2	1	2	1	4	5	2	2	4	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43378792T>C	ENST00000372861.3	+	2	437	c.306T>C	c.(304-306)ggT>ggC	p.G102G		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	102						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CCGCGCCGGGTACGGACTCCG	0.682													13	44					0	0	0	0	C	43378792	T	C	43378792	2	2	408	1	0	0	0	0	0	0	0	1	8115	1625	57	5		5	KCNK15	20	43378792	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3312817	43378792	19646728	3775	81593											
RIMS4	140730	broad.mit.edu	37	chr20	43438825	43438825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgcgcttacctgcgtcctCgtcgtcgaaggagttcatgc	5	10	12	14	7	1	0	1	0	0	0	5	2	2	1	2	1	3	2	2	1	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43438825C>T	ENST00000372851.3	-	1	154	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RIMS4_ENST00000541604.2_Missense_Mutation_p.E30K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	30					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCTGCGTCCTCGTCGTCGAAG	0.731													6	18					0	0	0	0	T	43438825	C	T	43438825	3	4	408	1	0	0	0	0	1	0	0	0	13455	893	31	1	745	1	RIMS4	20	43438825	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	60033	43438825	19586695	3776	81594											
STK4	6789	broad.mit.edu	37	chr20	43623734	43623734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccctttctattttaggatAccatggccaagcggaataca	11	12	7	11	1	1	0	0	0	1	0	2	2	2	2	3	3	3	0	3	3	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43623734A>G	ENST00000372806.3	+	6	624	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	STK4_ENST00000499879.2_Missense_Mutation_p.T122A|STK4_ENST00000372801.1_Missense_Mutation_p.T177A|STK4_ENST00000396731.4_Missense_Mutation_p.T177A	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	177	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ATTTTAGGATACCATGGCCAA	0.398													40	116					0	0	0	0	G	43623734	A	G	43623734	3	3	408	1	0	0	0	0	1	0	0	0	15396	391	14	5	551	5	STK4	20	43623734	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	184909	43623734	19401786	3777	81595											
PI3	5266	broad.mit.edu	37	chr20	43804535	43804535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacactgtcaaaggccGtgttccattcaatggacaag	13	9	9	10	1	3	1	3	0	0	1	4	2	4	2	2	2	0	1	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43804535G>A	ENST00000243924.3	+	2	160	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	38	2 X tandem repeats of SVP-1 like motif.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GTCAAAGGCCGTGTTCCATTC	0.443													42	130					0	0	0	0	A	43804535	G	A	43804535	3	1	408	1	0	0	0	0	1	0	0	0	11942	1145	40	1	119	1	PI3	20	43804535	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	180801	43804535	19220985	3778	81596											
SEMG1	6406	broad.mit.edu	37	chr20	43837051	43837051	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcagaaagatgtatcccaAcgcagtatttatagccaaac	15	9	8	9	1	0	2	0	0	0	2	1	2	1	2	2	0	4	4	2	0	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43837051A>G	ENST00000372781.3	+	2	1170	c.1113A>G	c.(1111-1113)caA>caG	p.Q371Q	SEMG1_ENST00000244069.6_Silent_p.Q311Q	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGTATCCCAACGCAGTATTT	0.413													24	78					0	0	0	0	G	43837051	A	G	43837051	2	3	408	1	0	0	0	0	0	0	0	1	14131	40	2	5		5	SEMG1	20	43837051	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	32516	43837051	19188469	3779	81597											
DBNDD2	55861	broad.mit.edu	37	chr20	44037154	44037154	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcgccagcagctccgccTtcgggagcggcaaaaattct	9	6	13	13	4	1	0	0	0	1	0	3	2	2	2	3	3	4	3	3	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44037154T>C	ENST00000372712.2	+	2	628	c.47T>C	c.(46-48)cTt>cCt	p.L16P	DBNDD2_ENST00000372722.3_Missense_Mutation_p.L16P|DBNDD2_ENST00000372720.3_Missense_Mutation_p.L114P|DBNDD2_ENST00000357275.2_Missense_Mutation_p.L16P|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000360981.4_Missense_Mutation_p.L16P|DBNDD2_ENST00000372710.3_Missense_Mutation_p.L118P|DBNDD2_ENST00000372723.3_Missense_Mutation_p.L16P|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372717.1_Missense_Mutation_p.L16P			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	114					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAGCTCCGCCTTCGGGAGCGG	0.552													34	98					0	0	0	0	C	44037154	T	C	44037154	3	2	408	1	0	0	0	0	1	0	0	0	4287	1609	56	5	49	5	DBNDD2	20	44037154	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	200103	44037154	18988366	3780	81598											
SNX21	90203	broad.mit.edu	37	chr20	44463689	44463689	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcccggaacaccttggcAccccagcggctgctcttcga	8	7	10	16	3	1	0	0	0	1	0	3	2	2	1	4	3	3	3	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44463689A>G	ENST00000372542.1	+	2	666	c.354A>G	c.(352-354)gcA>gcG	p.A118A	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.A127A|SNX21_ENST00000462307.1_Silent_p.A127A|SNX21_ENST00000491381.1_Silent_p.A127A|SNX21_ENST00000372541.1_Silent_p.A118A			Q969T3	SNX21_HUMAN	sorting nexin family member 21	127					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				ACACCTTGGCACCCCAGCGGC	0.622													15	103					0	0	0	0	G	44463689	A	G	44463689	2	3	408	1	0	0	0	0	0	0	0	1	14981	146	6	5		5	SNX21	20	44463689	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	426535	44463689	18561831	3781	81599											
ZNF335	63925	broad.mit.edu	37	chr20	44589503	44589503	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcacgccagactcacCggatctggcctcttcttcct	6	9	9	17	2	4	1	1	0	3	1	5	2	5	2	5	3	1	1	5	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44589503C>A	ENST00000322927.2	-	11	1765	c.1665_splice	c.e11+1	p.P555_splice	ZNF335_ENST00000426788.1_Splice_Site_p.P400_splice	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCAGACTCACCGGATCTGGCC	0.582													9	12					3.09899e-07	3.1815e-07	1	0	A	44589503	C	A	44589503	5	1	408	1	0	0	0	0	0	0	1	0	17947	666	23	3	2435	3	ZNF335	20	44589503	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	125814	44589503	18436017	3782	81600											
SLC12A5	57468	broad.mit.edu	37	chr20	44673611	44673611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcattccaggtttggCgaagctgtgaatggcaacct	10	10	10	11	1	1	1	1	1	0	0	2	2	2	1	3	3	2	3	3	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44673611C>T	ENST00000454036.1	+	12	1546	c.1470C>T	c.(1468-1470)ggC>ggT	p.G490G	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.G467G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	490					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.G467G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGGTTTGGCGAAGCTGTGA	0.567													45	167					0	0	0	0	T	44673611	C	T	44673611	2	4	408	1	0	0	0	0	0	0	0	1	14474	755	27	1		1	SLC12A5	20	44673611	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	84108	44673611	18351909	3783	81601											
CDH22	64405	broad.mit.edu	37	chr20	44803673	44803673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctcgtccgagctcaggtgGctcttgtggtggcgcctgag	3	11	15	12	3	2	1	1	1	1	0	5	2	4	1	3	4	1	2	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44803673G>A	ENST00000372262.3	-	11	2359	c.1959C>T	c.(1957-1959)agC>agT	p.S653S	CDH22_ENST00000537909.1_Silent_p.S653S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	653					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGCTCAGGTGGCTCTTGTGGT	0.622													6	69					0	0	0	0	A	44803673	G	A	44803673	2	1	408	1	0	0	0	0	0	0	0	1	3136	1194	42	4		4	CDH22	20	44803673	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	130062	44803673	18221847	3784	81602											
CDH22	64405	broad.mit.edu	37	chr20	44815539	44815539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgggggattgtcgttcacatCcaggattcggatccttaggg	7	12	14	8	2	1	0	1	0	0	0	5	3	3	3	2	5	0	1	2	5	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44815539C>G	ENST00000372262.3	-	8	1871	c.1471G>C	c.(1471-1473)Gat>Cat	p.D491H	CDH22_ENST00000537909.1_Missense_Mutation_p.D491H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	491	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGTTCACATCCAGGATTCGG	0.577													62	230					0	0	0	0	G	44815539	C	G	44815539	3	3	408	1	0	0	0	0	1	0	0	0	3136	855	30	2	1031	2	CDH22	20	44815539	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	11866	44815539	18209981	3785	81603											
SLC35C2	51006	broad.mit.edu	37	chr20	44983791	44983791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcccccagcaccaaggcGaagccctccacgttgaactg	10	4	11	16	2	0	1	0	1	0	0	1	3	1	1	5	2	3	2	5	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44983791G>A	ENST00000372227.1	-	6	1038	c.498C>T	c.(496-498)ttC>ttT	p.F166F	SLC35C2_ENST00000372230.5_Silent_p.F166F|SLC35C2_ENST00000372229.1_Silent_p.F33F|SLC35C2_ENST00000317734.8_Silent_p.F145F|SLC35C2_ENST00000243896.2_Silent_p.F166F|SLC35C2_ENST00000543605.1_Silent_p.F195F			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	166					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GCACCAAGGCGAAGCCCTCCA	0.617													34	65					0	0	0	0	A	44983791	G	A	44983791	2	1	408	1	0	0	0	0	0	0	0	1	14668	1049	37	1		1	SLC35C2	20	44983791	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	168252	44983791	18041729	3786	81604											
ELMO2	63916	broad.mit.edu	37	chr20	45022181	45022181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactaacctgttcggtgatgTacagctgaggaccatctgca	10	11	10	10	1	1	2	0	2	1	0	2	3	1	3	2	2	5	4	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45022181T>C	ENST00000290246.6	-	5	373	c.179A>G	c.(178-180)tAc>tGc	p.Y60C	ELMO2_ENST00000396391.1_Missense_Mutation_p.Y60C|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.Y60C|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y60C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000372176.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	60					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCGGTGATGTACAGCTGAGG	0.468													24	371					0	0	0	0	C	45022181	T	C	45022181	3	2	408	1	0	0	0	0	1	0	0	0	5104	1638	57	5	2055	5	ELMO2	20	45022181	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	38390	45022181	18003339	3787	81605											
ELMO2	63916	broad.mit.edu	37	chr20	45022217	45022217	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcataacggagggtataaTactctgggtttggcaacgac	11	10	12	8	2	1	0	0	0	1	0	1	2	1	1	0	4	4	4	0	4	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45022217T>C	ENST00000290246.6	-	5	337	c.143A>G	c.(142-144)tAt>tGt	p.Y48C	ELMO2_ENST00000396391.1_Missense_Mutation_p.Y48C|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.Y48C|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y48C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000372176.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	48					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GAGGGTATAATACTCTGGGTT	0.438													86	237					0	0	0	0	C	45022217	T	C	45022217	3	2	408	1	0	0	0	0	1	0	0	0	5104	1406	49	5	2091	5	ELMO2	20	45022217	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	36	45022217	18003303	3788	81606											
ZNF334	55713	broad.mit.edu	37	chr20	45130425	45130425	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccatgttcactacacTcataaagattctcctttgtg	10	14	5	12	0	3	1	2	0	1	1	4	1	3	1	2	0	2	1	2	0	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45130425T>G	ENST00000457685.2	-	6	2762	c.1439A>C	c.(1438-1440)gAg>gCg	p.E480A	ZNF334_ENST00000593880.1_Missense_Mutation_p.E541A|ZNF334_ENST00000347606.4_Missense_Mutation_p.E518A			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCACTACACTCATAAAGATT	0.403													11	237					0	0	0	0	G	45130425	T	G	45130425	3	3	408	1	0	0	0	0	1	0	0	0	17946	1551	54	5	493	5	ZNF334	20	45130425	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	108208	45130425	17895095	3789	81607											
ZNF334	55713	broad.mit.edu	37	chr20	45131105	45131106	+	Frame_Shift_Del	DEL	TC	TC	-																															cattcactgcattcatagggTctctctccagtatgaattct																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45131105_45131106delTC	ENST00000457685.2	-	6	2081_2082	c.758_759delGA	c.(757-759)afs	p.R253fs	ZNF334_ENST00000593880.1_Frame_Shift_Del_p.R314fs|ZNF334_ENST00000347606.4_Frame_Shift_Del_p.R291fs			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATTCATAGGGTCTCTCTCCAGT	0.416													34	126	---	---	---	---					-	45131106	TC	-	45131105	7	5	408	1	0	1	0	1	0	0	0	0	17946	1664	58	0	1173	0	ZNF334	20	45131105	Frame_Shift_Del	DEL	TC	TCGA-F7-A624-01A-22D-A30E-08	680	45131105	17894415	3790	81608											
ZMYND8	23613	broad.mit.edu	37	chr20	45875172	45875172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctcatcatcactgatatActcactatcgctactatctg	10	14	4	13	1	5	1	4	1	1	0	6	1	5	1	0	0	3	2	0	0	5	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45875172A>G	ENST00000311275.7	-	14	2057	c.1804T>C	c.(1804-1806)Tat>Cat	p.Y602H	ZMYND8_ENST00000471951.2_Missense_Mutation_p.Y622H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.Y539H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.Y622H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.Y550H|ZMYND8_ENST00000536340.1_Missense_Mutation_p.Y629H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000458360.2_Missense_Mutation_p.Y597H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.Y597H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.Y597H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.Y622H			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	602							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCACTGATATACTCACTATCG	0.418													48	104					0	0	0	0	G	45875172	A	G	45875172	3	3	408	1	0	0	0	0	1	0	0	0	17806	391	14	5	1742	5	ZMYND8	20	45875172	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	744067	45875172	17150348	3791	81609											
SULF2	55959	broad.mit.edu	37	chr20	46292235	46292235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagtgctggttgtcgTgggtgaagcacgtgaggcct	5	11	16	9	2	1	2	0	2	1	0	2	2	1	2	2	3	3	3	2	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:46292235T>C	ENST00000359930.4	-	16	3040	c.2189A>G	c.(2188-2190)cAc>cGc	p.H730R	SULF2_ENST00000361612.4_Missense_Mutation_p.H730R|SULF2_ENST00000467815.1_Missense_Mutation_p.H730R|SULF2_ENST00000484875.1_Missense_Mutation_p.H730R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	730					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTGGTTGTCGTGGGTGAAGCA	0.612											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	122					0	0	0	0	C	46292235	T	C	46292235	3	2	408	1	0	0	0	0	1	0	0	0	15461	1696	59	5	447	5	SULF2	20	46292235	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	417063	46292235	16733285	3792	81610											
ARFGEF2	10564	broad.mit.edu	37	chr20	47601376	47601376	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggaggagcgcctggattCcgtaaggcttgggggtgtag	7	8	18	8	2	0	0	0	0	0	0	1	3	1	3	3	6	1	3	3	6	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47601376C>A	ENST00000371917.4	+	15	2069	c.2070_splice	c.e15+1	p.S690_splice		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	690	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	p.S690F(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CGCCTGGATTCCGTAAGGCTT	0.527													35	119					3.90053e-15	4.08622e-15	1	0	A	47601376	C	A	47601376	5	1	408	1	0	0	0	0	0	0	1	0	855	869	30	2	2127	2	ARFGEF2	20	47601376	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1309141	47601376	15424144	3793	81611											
ARFGEF2	10564	broad.mit.edu	37	chr20	47635470	47635470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcatagataaaaatccctCtgagaggggacagagccagc	15	5	11	10	0	1	3	0	1	1	3	2	5	2	4	2	2	3	1	2	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47635470C>G	ENST00000371917.4	+	34	4559	c.4559C>G	c.(4558-4560)tCt>tGt	p.S1520C		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1520					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAAATCCCTCTGAGAGGGGA	0.413													14	37					0	0	0	0	G	47635470	C	G	47635470	3	3	408	1	0	0	0	0	1	0	0	0	855	913	32	2	4693	2	ARFGEF2	20	47635470	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	34094	47635470	15390050	3794	81612											
STAU1	6780	broad.mit.edu	37	chr20	47741121	47741121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtgggccactctcccgggCcacctgtttcagagggaaag	7	7	15	12	1	2	1	1	0	1	1	3	2	2	2	4	4	0	1	4	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47741121C>T	ENST00000371828.3	-	7	875	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	STAU1_ENST00000347458.5_Missense_Mutation_p.A124T|STAU1_ENST00000371802.1_Missense_Mutation_p.A130T|STAU1_ENST00000371792.1_Missense_Mutation_p.A124T|STAU1_ENST00000340954.7_Missense_Mutation_p.A124T|STAU1_ENST00000360426.4_Missense_Mutation_p.A124T|STAU1_ENST00000371856.2_Missense_Mutation_p.A205T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	205	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CTCTCCCGGGCCACCTGTTTC	0.517													24	88					0	0	0	0	T	47741121	C	T	47741121	3	4	408	1	0	0	0	0	1	0	0	0	15362	739	26	4	1152	4	STAU1	20	47741121	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	105651	47741121	15284399	3795	81613											
ZNFX1	57169	broad.mit.edu	37	chr20	47881256	47881256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagagctgggacttacactCatgtaggcccttcggaggtg	8	10	13	10	1	2	1	2	0	0	1	3	3	2	3	1	4	2	2	1	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47881256C>G	ENST00000396105.1	-	5	2394	c.2148G>C	c.(2146-2148)atG>atC	p.M716I	ZNFX1_ENST00000371754.4_Missense_Mutation_p.M716I|ZNFX1_ENST00000371752.1_Missense_Mutation_p.M716I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	716							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GACTTACACTCATGTAGGCCC	0.537													58	171					0	0	0	0	G	47881256	C	G	47881256	3	3	408	1	0	0	0	0	1	0	0	0	18298	826	29	2	3648	2	ZNFX1	20	47881256	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	140135	47881256	15144264	3796	81614											
ZNFX1	57169	broad.mit.edu	37	chr20	47881313	47881313	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaattcccgcttgttcctCagctcccttagggtgaactg	6	12	10	13	2	1	1	1	1	0	0	4	2	4	2	3	2	2	3	3	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47881313C>G	ENST00000396105.1	-	5	2337	c.2091G>C	c.(2089-2091)ctG>ctC	p.L697L	ZNFX1_ENST00000371754.4_Silent_p.L697L|ZNFX1_ENST00000371752.1_Silent_p.L697L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	697							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTTGTTCCTCAGCTCCCTTA	0.527													48	156					0	0	0	0	G	47881313	C	G	47881313	2	3	408	1	0	0	0	0	0	0	0	1	18298	813	29	2		2	ZNFX1	20	47881313	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	57	47881313	15144207	3797	81615											
ZNFX1	57169	broad.mit.edu	37	chr20	47887207	47887207	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttcccgtaaaggtctgAcgaaatcttctcgcaggagc	10	10	9	12	3	3	1	0	1	3	0	5	3	4	2	2	2	2	2	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47887207A>T	ENST00000396105.1	-	3	1388	c.1142T>A	c.(1141-1143)gTc>gAc	p.V381D	ZNFX1_ENST00000371754.4_Missense_Mutation_p.V381D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.V381D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	381							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAAAGGTCTGACGAAATCTTC	0.473													31	87					0	0	0	0	T	47887207	A	T	47887207	3	4	408	1	0	0	0	0	1	0	0	0	18298	275	10	5	4662	5	ZNFX1	20	47887207	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	5894	47887207	15138313	3798	81616											
B4GALT5	9334	broad.mit.edu	37	chr20	48260136	48260136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtctttggagaagagtTcatgaatgtaatccattcca	11	14	10	6	0	2	3	1	1	1	2	4	4	4	3	2	2	0	2	2	2	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:48260136T>C	ENST00000371711.4	-	4	603	c.416A>G	c.(415-417)gAa>gGa	p.E139G		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	139					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GGAGAAGAGTTCATGAATGTA	0.458													25	90					0	0	0	0	C	48260136	T	C	48260136	3	2	408	1	0	0	0	0	1	0	0	0	1278	1783	62	5	774	5	B4GALT5	20	48260136	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	372929	48260136	14765384	3799	81617											
PTPN1	5770	broad.mit.edu	37	chr20	49197817	49197817	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcatgagtcaagacacTgaagttagaagtcgggtcgt	12	9	12	8	2	2	4	2	2	0	2	4	4	2	4	0	1	1	2	0	1	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:49197817T>C	ENST00000371621.3	+	9	1278	c.1104T>C	c.(1102-1104)acT>acC	p.T368T	PTPN1_ENST00000541713.1_Silent_p.T295T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	368					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GTCAAGACACTGAAGTTAGAA	0.552													18	62					0	0	0	0	C	49197817	T	C	49197817	2	2	408	1	0	0	0	0	0	0	0	1	12859	1567	55	5		5	PTPN1	20	49197817	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	937681	49197817	13827703	3800	81618											
MOCS3	27304	broad.mit.edu	37	chr20	49575406	49575406	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggaggaggtactcgcCttacaagctgaagttgccca	9	8	12	12	2	0	1	0	1	0	0	2	3	1	3	3	3	4	3	3	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:49575406C>A	ENST00000244051.1	+	1	44	c.27C>A	c.(25-27)gcC>gcA	p.A9A		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	9					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						AGGTACTCGCCTTACAAGCTG	0.562													26	92					1.55811e-20	1.6422e-20	1	0	A	49575406	C	A	49575406	2	1	408	1	0	0	0	0	0	0	0	1	9762	668	24	4		4	MOCS3	20	49575406	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	377589	49575406	13450114	3801	81619											
KCNG1	3755	broad.mit.edu	37	chr20	49620945	49620945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacgtagagcaggggcgcGaagagggcgatggccacgca	11	3	18	9	5	0	3	0	1	0	2	0	5	0	3	1	4	1	3	1	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:49620945G>A	ENST00000371571.4	-	3	1458	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	391						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAGGGGCGCGAAGAGGGCGA	0.677													14	32					0	0	0	0	A	49620945	G	A	49620945	2	1	408	1	0	0	0	0	0	0	0	1	8080	1049	37	1		1	KCNG1	20	49620945	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	45539	49620945	13404575	3802	81620											
NFATC2	4773	broad.mit.edu	37	chr20	50139950	50139950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgagatgagggctgcGgcgaggggctccgggagcgc	6	4	20	11	5	0	2	0	2	0	1	1	5	1	3	2	5	2	2	2	5	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:50139950G>A	ENST00000371564.3	-	2	1049	c.830C>T	c.(829-831)cCg>cTg	p.P277L	NFATC2_ENST00000414705.1_Missense_Mutation_p.P257L|NFATC2_ENST00000396009.3_Missense_Mutation_p.P277L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	277	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGAGGGCTGCGGCGAGGGGCT	0.711													7	27					0	0	0	0	A	50139950	G	A	50139950	3	1	408	1	0	0	0	0	1	0	0	0	10432	1116	39	1	2031	1	NFATC2	20	50139950	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	519005	50139950	12885570	3803	81621											
ZFP64	55734	broad.mit.edu	37	chr20	50769809	50769809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttattcccgctgtgcttgaTacggatgtgcgacttgaggt	6	14	13	8	3	0	2	0	2	0	0	1	4	1	3	1	2	3	3	1	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:50769809T>C	ENST00000216923.4	-	6	1271	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.I306V|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.I254V	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGTGCTTGATACGGATGTGC	0.572													29	82					0	0	0	0	C	50769809	T	C	50769809	3	2	408	1	0	0	0	0	1	0	0	0	17747	1406	49	5	2318	5	ZFP64	20	50769809	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	629859	50769809	12255711	3804	81622											
ZNF217	7764	broad.mit.edu	37	chr20	52198633	52198633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcgcgctgctggtacCgaaagcagtttttttggtgt	5	15	13	8	3	1	0	0	0	1	0	1	1	1	0	1	2	4	5	1	2	2	4	rs150961799		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:52198633C>T	ENST00000371471.2	-	2	1158	c.733G>A	c.(733-735)Ggt>Agt	p.G245S	ZNF217_ENST00000302342.3_Missense_Mutation_p.G245S			O75362	ZN217_HUMAN	zinc finger protein 217	245					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTGCTGGTACCGAAAGCAGTT	0.483													46	124					0	0	0	0	T	52198633	C	T	52198633	3	4	408	1	0	0	0	0	1	0	0	0	17867	652	23	1	2429	1	ZNF217	20	52198633	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1428824	52198633	10826887	3805	81623											
CBLN4	140689	broad.mit.edu	37	chr20	54579152	54579152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgtcgttctgtgcccAgacgggcagccccggcagcg	4	7	14	16	5	1	1	0	0	1	1	3	1	2	1	4	2	3	3	4	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:54579152A>G	ENST00000064571.2	-	1	1376	c.76T>C	c.(76-78)Tgg>Cgg	p.W26R		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	26						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTCTGTGCCCAGACGGGCAGC	0.721													3	21					0	0	0	0	G	54579152	A	G	54579152	3	3	408	1	0	0	0	0	1	0	0	0	2732	188	7	5	541	5	CBLN4	20	54579152	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	2380519	54579152	8446368	3806	81624											
RBM38	55544	broad.mit.edu	37	chr20	55982757	55982757	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctatgaccagtacccatAcgccgcctcgcctgccacgg	8	6	8	19	4	0	1	0	1	0	0	1	1	0	1	7	1	3	1	7	1	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:55982757A>G	ENST00000356208.5	+	4	750	c.575A>G	c.(574-576)tAc>tGc	p.Y192C	RBM38_ENST00000371219.2_Missense_Mutation_p.Y111C|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	192					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CAGTACCCATACGCCGCCTCG	0.706													14	47					0	0	0	0	G	55982757	A	G	55982757	3	3	408	1	0	0	0	0	1	0	0	0	13214	391	14	5	348	5	RBM38	20	55982757	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1403605	55982757	7042763	3807	81625											
VAPB	9217	broad.mit.edu	37	chr20	56993282	56993282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaggtcccttcaccgatgTtgtcaccaccaacctaaagc	11	9	6	15	1	2	0	2	0	0	0	3	1	3	0	5	1	3	1	5	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:56993282T>C	ENST00000475243.1	+	2	412	c.74T>C	c.(73-75)gTt>gCt	p.V25A	VAPB_ENST00000395802.3_Missense_Mutation_p.V25A|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	25	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TTCACCGATGTTGTCACCACC	0.463													8	161					0	0	0	0	C	56993282	T	C	56993282	3	2	408	1	0	0	0	0	1	0	0	0	17218	1725	60	5	80	5	VAPB	20	56993282	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1010525	56993282	6032238	3808	81626											
APCDD1L	164284	broad.mit.edu	37	chr20	57036286	57036286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtcacatgggcccgtgTgacctcaaacaccagctcgg	8	6	14	13	2	2	1	2	1	0	0	3	1	2	1	3	4	2	1	3	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:57036286T>C	ENST00000371149.3	-	4	1296	c.1066A>G	c.(1066-1068)Aca>Gca	p.T356A	APCDD1L_ENST00000439429.1_Missense_Mutation_p.T367A|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	356						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TGGGCCCGTGTGACCTCAAAC	0.687													4	66					0	0	0	0	C	57036286	T	C	57036286	3	2	408	1	0	0	0	0	1	0	0	0	767	1696	59	5	443	5	APCDD1L	20	57036286	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	43004	57036286	5989234	3809	81627											
GNAS	2778	broad.mit.edu	37	chr20	57415854	57415854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgccgtgacgcgtccccGgagtccccttccaaaaaggg	8	5	11	17	5	0	1	0	1	0	0	3	2	3	2	7	2	0	0	7	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:57415854G>A	ENST00000313949.7	+	1	1082	c.693G>A	c.(691-693)ccG>ccA	p.P231P	GNAS_ENST00000371098.2_Silent_p.P231P|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.P231P|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	326			R -> H (in AHO; impairs the ability to mediate hormonal stimulation).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACGCGTCCCCGGAGTCCCCTT	0.592			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			9	31					0	0	0	0	A	57415854	G	A	57415854	2	1	408	1	0	0	0	0	0	0	0	1	6561	1103	39	1		1	GNAS	20	57415854	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	379568	57415854	5609666	3810	81628											
GNAS	2778	broad.mit.edu	37	chr20	57485765	57485765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgccagtggagatgggCgtcactactgctaccctcat	8	9	11	13	1	2	1	2	0	0	1	2	2	2	1	2	2	4	2	2	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:57485765C>T	ENST00000371100.4	+	13	3547	c.2995C>T	c.(2995-2997)Cgt>Tgt	p.R999C	GNAS_ENST00000265620.7_Missense_Mutation_p.R341C|GNAS_ENST00000354359.7_Missense_Mutation_p.R357C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R356C|GNAS_ENST00000371095.3_Missense_Mutation_p.R342C|GNAS_ENST00000306090.10_Missense_Mutation_p.R342C|GNAS_ENST00000371102.4_Missense_Mutation_p.R985C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	356					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGAGATGGGCGTCACTACTG	0.577			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			15	48					0	0	0	0	T	57485765	C	T	57485765	3	4	408	1	0	0	0	0	1	0	0	0	6561	768	27	1	3933	1	GNAS	20	57485765	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	69911	57485765	5539755	3811	81629											
SLMO2	51012	broad.mit.edu	37	chr20	57613590	57613590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaactttccagagggAtctatatgtctgtccaacac	10	12	8	11	0	2	1	0	0	2	1	4	2	4	2	2	1	3	1	2	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:57613590A>C	ENST00000355937.4	-	2	310	c.132T>G	c.(130-132)gaT>gaG	p.D44E	SLMO2_ENST00000371033.5_Missense_Mutation_p.D44E	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	44	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TTCCAGAGGGATCTATATGTC	0.483													14	175					0	0	0	0	C	57613590	A	C	57613590	3	2	408	1	0	0	0	0	1	0	0	0	14839	330	12	5	472	5	SLMO2	20	57613590	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	127825	57613590	5411930	3812	81630											
SYCP2	10388	broad.mit.edu	37	chr20	58461018	58461018	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggtttgtttgaaaaacCactgtaaaaaaagattttgt	17	13	7	4	0	0	2	0	1	0	1	0	2	0	2	1	1	2	3	1	1	7	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:58461018C>T	ENST00000357552.3	-	26	2719	c.2492_splice	c.e26-1	p.G832_splice	SYCP2_ENST00000371001.2_Splice_Site_p.G832_splice			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	832					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTGAAAAACCACTGTAAAAA	0.269													4	23					0	0	0	0	T	58461018	C	T	58461018	5	4	408	1	0	0	0	0	0	0	1	0	15523	608	21	4	2178	4	SYCP2	20	58461018	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	847428	58461018	4564502	3813	81631											
SYCP2	10388	broad.mit.edu	37	chr20	58475270	58475270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaaattcctttggggActttgatttttcctttaaac	9	19	6	7	0	0	1	0	1	0	0	2	2	2	2	2	2	2	1	2	2	4	9	rs148122576		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:58475270A>G	ENST00000357552.3	-	18	1552	c.1327T>C	c.(1327-1329)Tcc>Ccc	p.S443P	SYCP2_ENST00000371001.2_Missense_Mutation_p.S443P			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	443					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCTTTGGGGACTTTGATTTT	0.338													14	51					0	0	0	0	G	58475270	A	G	58475270	3	3	408	1	0	0	0	0	1	0	0	0	15523	275	10	5	3377	5	SYCP2	20	58475270	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	14252	58475270	4550250	3814	81632											
CDH26	60437	broad.mit.edu	37	chr20	58569540	58569540	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatggaagttggggagaaaTtggggtgagtttttgtattg	10	14	16	1	0	0	2	0	1	0	1	0	4	0	3	0	5	0	3	0	5	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:58569540T>C	ENST00000348616.4	+	11	1962	c.1662T>C	c.(1660-1662)aaT>aaC	p.N554N	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Silent_p.N554N	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	554					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGGGGAGAAATTGGGGTGAGT	0.428													14	51					0	0	0	0	C	58569540	T	C	58569540	2	2	408	1	0	0	0	0	0	0	0	1	3139	1490	52	5		5	CDH26	20	58569540	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	94270	58569540	4455980	3815	81633											
CDH4	1002	broad.mit.edu	37	chr20	60470078	60470078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgacagatgtgaatgacaAcccgccagaatttaccgcca	13	7	10	11	2	0	5	0	3	0	2	0	5	0	5	4	1	2	0	4	1	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60470078A>G	ENST00000360469.5	+	8	1251	c.1163A>G	c.(1162-1164)aAc>aGc	p.N388S	CDH4_ENST00000543233.1_Missense_Mutation_p.N314S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	388	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGAATGACAACCCGCCAGAA	0.567													50	132					0	0	0	0	G	60470078	A	G	60470078	3	3	408	1	0	0	0	0	1	0	0	0	3141	43	2	5	1193	5	CDH4	20	60470078	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1900538	60470078	2555442	3816	81634											
SS18L1	26039	broad.mit.edu	37	chr20	60749635	60749635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaaggccagcagtacGgaagctaccgagcaccgcag	13	2	13	13	3	0	0	0	0	0	0	0	2	0	1	4	3	5	5	4	3	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60749635G>A	ENST00000331758.3	+	10	1125	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	SS18L1_ENST00000370848.4_Missense_Mutation_p.G370R|SS18L1_ENST00000421564.1_Missense_Mutation_p.G367R	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	367	Gln-rich.|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CCAGCAGTACGGAAGCTACCG	0.632			T	SSX1	synovial sarcoma								56	189					0	0	0	0	A	60749635	G	A	60749635	3	1	408	1	0	0	0	0	1	0	0	0	15266	1117	39	1	1137	1	SS18L1	20	60749635	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	279557	60749635	2275885	3817	81635											
OSBPL2	9885	broad.mit.edu	37	chr20	60838714	60838714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcagaagcgacttcagCgtgtggaccatcctgaagaa	12	8	11	10	2	2	3	2	1	0	2	3	5	3	4	2	1	3	1	2	1	3	2	rs146206209	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60838714C>T	ENST00000313733.3	+	4	427	c.225C>T	c.(223-225)agC>agT	p.S75S	OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Silent_p.S63S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	75					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GCGACTTCAGCGTGTGGACCA	0.582													28	112					0	0	0	0	T	60838714	C	T	60838714	2	4	408	1	0	0	0	0	0	0	0	1	11349	767	27	1		1	OSBPL2	20	60838714	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	89079	60838714	2186806	3818	81636											
LAMA5	3911	broad.mit.edu	37	chr20	60885589	60885589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggggcctcccgtgcaGcctcagtctcttcacacagc	6	7	9	19	1	3	0	2	0	1	0	5	0	4	0	5	2	3	1	5	2	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60885589G>A	ENST00000252999.3	-	76	10552	c.10486C>T	c.(10486-10488)Ctg>Ttg	p.L3496L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3496	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCGTGCAGCCTCAGTCTC	0.687													41	107					0	0	0	0	A	60885589	G	A	60885589	2	1	408	1	0	0	0	0	0	0	0	1	8662	962	34	4		4	LAMA5	20	60885589	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	46875	60885589	2139931	3819	81637											
DIDO1	11083	broad.mit.edu	37	chr20	61513014	61513014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgcttcttctaagatggTctcatcctcggggtcatagg	6	15	10	10	2	4	1	2	0	3	1	8	1	5	1	1	4	0	1	1	4	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:61513014T>C	ENST00000266070.4	-	16	4619	c.4294A>G	c.(4294-4296)Acc>Gcc	p.T1432A	DIDO1_ENST00000395343.1_Missense_Mutation_p.T1432A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1432					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTAAGATGGTCTCATCCTCG	0.617													8	269					0	0	0	0	C	61513014	T	C	61513014	3	2	408	1	0	0	0	0	1	0	0	0	4559	1667	58	5	2432	5	DIDO1	20	61513014	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	627425	61513014	1512506	3820	81638											
DIDO1	11083	broad.mit.edu	37	chr20	61513712	61513713	+	Frame_Shift_Ins	INS	-	-	T																															actgtttgcgggacgtttgaINSttttttggcagattactaac																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:61513712_61513713insT	ENST00000266070.4	-	16	3920_3921	c.3595_3596insA	c.(3595-3597)caafs	p.Q1199fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.Q1199fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1199					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGACGTTTGATTTTTTGGCAG	0.431													27	92	---	---	---	---					T	61513713	-	T	61513712	7	5	408	1	0	1	1	0	0	0	0	0	4559	333	12	0	3130	0	DIDO1	20	61513712	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	698	61513712	1511808	3821	81639											
DIDO1	11083	broad.mit.edu	37	chr20	61525511	61525511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgacaatttttgtttttTcggagctggctcatcttctg	6	18	9	8	1	3	1	1	1	2	0	4	2	3	2	0	2	2	4	0	2	1	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:61525511T>C	ENST00000266070.4	-	12	2933	c.2608A>G	c.(2608-2610)Aaa>Gaa	p.K870E	DIDO1_ENST00000395340.1_Missense_Mutation_p.K870E|DIDO1_ENST00000395343.1_Missense_Mutation_p.K870E|DIDO1_ENST00000395335.2_Missense_Mutation_p.K870E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	870					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTTTGTTTTTTCGGAGCTGGC	0.493													61	182					0	0	0	0	C	61525511	T	C	61525511	3	2	408	1	0	0	0	0	1	0	0	0	4559	1792	62	5	4163	5	DIDO1	20	61525511	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	11799	61525511	1500009	3822	81640											
KCNQ2	3785	broad.mit.edu	37	chr20	62076603	62076603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctcaccaatcacacagaAcggtttccgggcaaacttga	12	7	9	13	2	2	2	2	1	0	1	3	2	3	2	3	3	2	2	3	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62076603A>G	ENST00000354587.3	-	3	678	c.502T>C	c.(502-504)Ttc>Ctc	p.F168L	KCNQ2_ENST00000344462.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000344425.5_Missense_Mutation_p.F168L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.F168L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.F168L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000370221.1_Missense_Mutation_p.F168L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	168					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATCACACAGAACGGTTTCCGG	0.657													22	67					0	0	0	0	G	62076603	A	G	62076603	3	3	408	1	0	0	0	0	1	0	0	0	8136	43	2	5	2240	5	KCNQ2	20	62076603	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	551092	62076603	948917	3823	81641											
C20orf195	79025	broad.mit.edu	37	chr20	62187126	62187126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgctggaaccagaggCgtggaagacctacaccgagc	11	4	14	12	2	0	2	0	0	0	2	0	5	0	4	3	3	5	3	3	3	3	1	rs148340283		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62187126C>T	ENST00000370098.3	+	2	202	c.110C>T	c.(109-111)gCg>gTg	p.A37V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A37V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	37										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GAACCAGAGGCGTGGAAGACC	0.642													12	58					0	0	0	0	T	62187126	C	T	62187126	3	4	408	1	0	0	0	0	1	0	0	0	2120	768	27	1	112	1	C20orf195	20	62187126	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	110523	62187126	838394	3824	81642											
GMEB2	26205	broad.mit.edu	37	chr20	62224425	62224425	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatggtgatggtcgcaggAgacccattcactgcagccga	9	9	12	11	2	2	2	1	1	1	1	3	4	2	2	2	3	2	2	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62224425A>T	ENST00000266068.1	-	6	1108	c.630T>A	c.(628-630)tcT>tcA	p.S210S	GMEB2_ENST00000370069.1_Silent_p.S159S|GMEB2_ENST00000370077.1_Silent_p.S210S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	210					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TGGTCGCAGGAGACCCATTCA	0.597													3	19					0	0	0	0	T	62224425	A	T	62224425	2	4	408	1	0	0	0	0	0	0	0	1	6539	291	11	5		5	GMEB2	20	62224425	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	37299	62224425	801095	3825	81643											
RTEL1	51750	broad.mit.edu	37	chr20	62328129	62328129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaggaccatgagggcGctggaggggccaggcctgtc	8	4	17	12	1	0	1	0	1	0	0	1	3	0	3	4	6	1	2	4	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62328129G>A	ENST00000318100.4	+	36	4743	c.3916G>A	c.(3916-3918)Gct>Act	p.A1306T	TNFRSF6B_ENST00000369996.1_Silent_p.A3A|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1306T			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	0					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCATGAGGGCGCTGGAGGGGC	0.697													6	7					0	0	0	0	A	62328129	G	A	62328129	3	1	408	1	0	0	0	0	1	0	0	0	13805	1074	38	1		1	RTEL1	20	62328129	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	103704	62328129	697391	3826	81644											
UCKL1	54963	broad.mit.edu	37	chr20	62577008	62577008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgggtgcttacctccAacagtgtcttgtcagcaaag	8	9	11	13	2	2	0	1	0	1	0	3	0	3	0	3	2	4	2	3	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62577008A>G	ENST00000369908.5	-	5	904	c.605T>C	c.(604-606)tTg>tCg	p.L202S	UCKL1_ENST00000354216.6_Missense_Mutation_p.L217S|UCKL1_ENST00000358711.3_Missense_Mutation_p.L217S|UCKL1_ENST00000369892.3_Missense_Mutation_p.L217S	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	217					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTTACCTCCAACAGTGTCTT	0.587													6	69					0	0	0	0	G	62577008	A	G	62577008	3	3	408	1	0	0	0	0	1	0	0	0	17021	131	5	5	1040	5	UCKL1	20	62577008	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	248879	62577008	448512	3827	81645											
OPRL1	4987	broad.mit.edu	37	chr20	62729402	62729402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccatccgtgccctcgacGtccgcacgtccagcaaagcc	8	5	8	20	5	0	0	0	0	0	0	4	1	3	0	7	0	3	2	7	0	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62729402G>A	ENST00000349451.3	+	5	893	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	OPRL1_ENST00000336866.2_Missense_Mutation_p.V161I|OPRL1_ENST00000355631.4_Missense_Mutation_p.V161I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	161					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTCGACGTCCGCACGTC	0.587													33	94					0	0	0	0	A	62729402	G	A	62729402	3	1	408	1	0	0	0	0	1	0	0	0	10957	1145	40	1	487	1	OPRL1	20	62729402	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	152394	62729402	296118	3828	81646											
MYT1	4661	broad.mit.edu	37	chr20	62839124	62839124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcggccaagccaggtcCtggcattgtgcacctgcttc	6	8	12	15	1	0	0	0	0	0	0	2	0	1	0	5	4	3	3	5	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62839124C>A	ENST00000536311.1	+	7	939	c.575C>A	c.(574-576)cCt>cAt	p.P192H	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.P192H			Q01538	MYT1_HUMAN	myelin transcription factor 1	192					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)					AAGCCAGGTCCTGGCATTGTG	0.592													24	58					7.92952e-12	8.24765e-12	1	0	A	62839124	C	A	62839124	3	1	408	1	0	0	0	0	1	0	0	0	10176	681	24	4	593	4	MYT1	20	62839124	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	109722	62839124	186396	3829	81647											
MYT1	4661	broad.mit.edu	37	chr20	62848555	62848555	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcacctttgactacgcaagTttcgatgctcaggtttttgg	7	15	10	9	2	2	1	2	1	0	0	3	2	2	1	1	2	2	4	1	2	2	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62848555T>C	ENST00000536311.1	+	11	2131	c.1767T>C	c.(1765-1767)agT>agC	p.S589S	MYT1_ENST00000360149.4_Silent_p.S291S|MYT1_ENST00000328439.1_Silent_p.S589S			Q01538	MYT1_HUMAN	myelin transcription factor 1	589					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)					ACTACGCAAGTTTCGATGCTC	0.532													7	129					0	0	0	0	C	62848555	T	C	62848555	2	2	408	1	0	0	0	0	0	0	0	1	10176	1722	60	5		5	MYT1	20	62848555	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	9431	62848555	176965	3830	81648											
BAGE2	85319	broad.mit.edu	37	chr21	11049553	11049553	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatagtgctgaccacaagTagtacaaaagaactgatcta	17	9	8	7	0	1	4	0	3	1	1	1	4	1	4	1	0	3	3	1	0	8	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:11049553T>G	ENST00000470054.1	-	0	555									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)		TGACCACAAGTAGTACAAAAG	0.448													6	179					0	0	0	0	G	11049553	T	G	11049553	1	3	408	0	1	0	0	0	0	0	0	0	1296	1653	57	5		5	BAGE2	21	11049553	RNA	SNP	T	TCGA-F7-A624-01A-22D-A30E-08		11049553	37080342	3831	81649											
HSPA13	6782	broad.mit.edu	37	chr21	15750672	15750672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagagccaacatattctgggGacactgtgatggtctcatta	11	11	11	8	0	2	2	1	1	2	1	3	4	2	3	1	3	2	0	1	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:15750672G>A	ENST00000285667.3	-	3	495	c.428C>T	c.(427-429)tCc>tTc	p.S143F	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	143						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATATTCTGGGGACACTGTGAT	0.373													4	44					0	0	0	0	A	15750672	G	A	15750672	3	1	408	1	0	0	0	0	1	0	0	0	7458	1174	41	2	999	2	HSPA13	21	15750672	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4701119	15750672	32379223	3832	81650											
NRIP1	8204	broad.mit.edu	37	chr21	16338609	16338609	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgactgcattccacattgTgctaaattttgtaacagctt	11	15	7	8	0	0	1	0	1	0	0	1	2	1	1	1	0	4	4	1	0	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:16338609T>C	ENST00000400202.1	-	3	2617	c.1905A>G	c.(1903-1905)gcA>gcG	p.A635A	NRIP1_ENST00000318948.4_Silent_p.A635A|NRIP1_ENST00000400199.1_Silent_p.A635A			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	635	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTCCACATTGTGCTAAATTTT	0.428													33	95					0	0	0	0	C	16338609	T	C	16338609	2	2	408	1	0	0	0	0	0	0	0	1	10723	1683	59	5		5	NRIP1	21	16338609	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	587937	16338609	31791286	3833	81651											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666640	19666640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgctgacgagagatgcGccgcagagcagtcggccgcc	8	5	14	14	5	1	3	1	1	0	2	2	5	1	3	3	1	3	3	3	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:19666640G>A	ENST00000284885.3	-	21	2466	c.2433C>T	c.(2431-2433)ggC>ggT	p.G811G		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	811	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGAGAGATGCGCCGCAGAGCA	0.567													33	113					0	0	0	0	A	19666640	G	A	19666640	2	1	408	1	0	0	0	0	0	0	0	1	16340	1074	38	1		1	TMPRSS15	21	19666640	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3328031	19666640	28463255	3834	81652											
JAM2	58494	broad.mit.edu	37	chr21	27078352	27078352	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggccttagtgatttccgtTtgtggccttggtgtatgcta	4	17	13	7	1	0	1	0	1	0	0	1	1	1	1	3	3	1	3	3	3	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:27078352T>C	ENST00000480456.1	+	7	1309	c.759T>C	c.(757-759)gtT>gtC	p.V253V	JAM2_ENST00000425221.2_Silent_p.V217V|JAM2_ENST00000400532.1_Silent_p.V253V|JAM2_ENST00000312957.5_Silent_p.V253V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	253					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGATTTCCGTTTGTGGCCTTG	0.388													21	62					0	0	0	0	C	27078352	T	C	27078352	2	2	408	1	0	0	0	0	0	0	0	1	7996	1828	64	5		5	JAM2	21	27078352	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7411712	27078352	21051543	3835	81653											
JAM2	58494	broad.mit.edu	37	chr21	27086964	27086964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctaggatttcaagcacAcaaaatcctttataatttaa	15	15	3	8	0	1	0	1	0	0	0	3	1	3	1	2	1	1	1	2	1	7	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:27086964A>G	ENST00000480456.1	+	10	1427	c.877A>G	c.(877-879)Aca>Gca	p.T293A	JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000425221.2_Missense_Mutation_p.T257A|JAM2_ENST00000312957.5_Missense_Mutation_p.T293A	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	293				DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).	blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTTCAAGCACACAAAATCCTT	0.279													22	49					0	0	0	0	G	27086964	A	G	27086964	3	3	408	1	0	0	0	0	1	0	0	0	7996	159	6	5	915	5	JAM2	21	27086964	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	8612	27086964	21042931	3836	81654											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210880	28210880	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagcttttacacactgTccttgcacacagacagaggt	12	9	7	13	0	0	2	0	0	0	2	1	2	1	2	2	1	4	2	2	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:28210880T>C	ENST00000284984.2	-	8	2536	c.2082A>G	c.(2080-2082)ggA>ggG	p.G694G		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	694	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTACACACTGTCCTTGCACAC	0.408													12	33					0	0	0	0	C	28210880	T	C	28210880	2	2	408	1	0	0	0	0	0	0	0	1	255	1654	58	5		5	ADAMTS1	21	28210880	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1123916	28210880	19919015	3837	81655											
RWDD2B	10069	broad.mit.edu	37	chr21	30380082	30380082	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatatgtaaaagcaaacCttgaccagaattcttcacag	17	10	5	9	0	2	2	1	1	1	1	2	2	2	2	2	0	3	2	2	0	6	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:30380082C>A	ENST00000493196.1	-	4	825	c.725_splice	c.e4+1	p.R242_splice	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	242										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AAAAGCAAACCTTGACCAGAA	0.428													14	65					0.00400662	0.00403976	1	0	A	30380082	C	A	30380082	5	1	408	1	0	0	0	0	0	0	1	0	13841	695	24	4	242	4	RWDD2B	21	30380082	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2169202	30380082	17749813	3838	81656											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768625	31768625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcctatgtggagtccaGcccctgccagacctcctgct	7	9	9	16	0	0	1	0	0	0	1	3	3	3	2	7	1	3	1	7	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:31768625G>T	ENST00000355459.2	+	1	234	c.221G>T	c.(220-222)aGc>aTc	p.S74I		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	74	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGGAGTCCAGCCCCTGCCAG	0.607													17	92					5.01169e-05	5.10218e-05	1	0	T	31768625	G	T	31768625	3	4	408	1	0	0	0	0	1	0	0	0	8574	971	34	4	223	4	KRTAP13-1	21	31768625	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1388543	31768625	16361270	3839	81657											
TIAM1	7074	broad.mit.edu	37	chr21	32585738	32585738	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggaacaatgtcatcAaatattccctctaaagattt	14	13	4	10	0	4	1	2	0	2	1	5	2	5	2	2	1	1	0	2	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:32585738A>G	ENST00000286827.3	-	11	2664	c.2193T>C	c.(2191-2193)ttT>ttC	p.F731F	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	731					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAATGTCATCAAATATTCCCT	0.388													13	72					0	0	0	0	G	32585738	A	G	32585738	2	3	408	1	0	0	0	0	0	0	0	1	15984	127	5	5		5	TIAM1	21	32585738	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	817113	32585738	15544157	3840	81658											
TIAM1	7074	broad.mit.edu	37	chr21	32595759	32595759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccgaaaagattccaaggCggcccatggccactttcgtt	11	9	9	12	3	0	1	0	0	0	1	2	2	1	1	4	3	1	1	4	3	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:32595759C>T	ENST00000286827.3	-	9	2429	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R653H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	653					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.R653H(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATTCCAAGGCGGCCCATGGC	0.483													12	128					0	0	0	0	T	32595759	C	T	32595759	3	4	408	1	0	0	0	0	1	0	0	0	15984	768	27	1	2901	1	TIAM1	21	32595759	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	10021	32595759	15534136	3841	81659											
IFNGR2	3460	broad.mit.edu	37	chr21	34793935	34793935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctacgccttcgagctgagCtgggagcactccattctgcc	6	10	10	15	2	2	1	0	1	2	0	4	3	3	2	3	1	5	3	3	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:34793935C>G	ENST00000290219.6	+	3	1003	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	IFNGR2_ENST00000405436.1_Missense_Mutation_p.L40V|IFNGR2_ENST00000381995.1_Missense_Mutation_p.L138V	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	119	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCGAGCTGAGCTGGGAGCACT	0.483													43	149					0	0	0	0	G	34793935	C	G	34793935	3	3	408	1	0	0	0	0	1	0	0	0	7603	796	28	4	365	4	IFNGR2	21	34793935	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2198176	34793935	13335960	3842	81660											
GART	2618	broad.mit.edu	37	chr21	34900476	34900476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctccctgacactcacctgTtatctctacacccttggtgt	6	14	6	15	0	2	1	1	1	1	0	4	1	3	1	3	1	2	2	3	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:34900476T>C	ENST00000381831.3	-	10	1326	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	GART_ENST00000381815.4_Missense_Mutation_p.T355A|GART_ENST00000381839.3_Missense_Mutation_p.T355A|GART_ENST00000361093.5_Missense_Mutation_p.T355A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	355					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CACTCACCTGTTATCTCTACA	0.512													5	146					0	0	0	0	C	34900476	T	C	34900476	3	2	408	1	0	0	0	0	1	0	0	0	6292	1725	60	5	2025	5	GART	21	34900476	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	106541	34900476	13229419	3843	81661											
DONSON	29980	broad.mit.edu	37	chr21	34953747	34953747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtaaaggtgttgattcctTttaccaacacaacagattca	14	13	6	8	0	1	2	1	1	0	1	2	2	2	2	2	1	3	2	2	1	5	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:34953747T>C	ENST00000453626.1	-	8	1215	c.1211A>G	c.(1210-1212)aAa>aGa	p.K404R	DONSON_ENST00000432378.1_Missense_Mutation_p.K404R|DONSON_ENST00000303071.5_Missense_Mutation_p.K404R|DONSON_ENST00000303113.6_Missense_Mutation_p.K390R			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	404					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GTTGATTCCTTTTACCAACAC	0.403													16	42					0	0	0	0	C	34953747	T	C	34953747	3	2	408	1	0	0	0	0	1	0	0	0	4742	1841	64	5	501	5	DONSON	21	34953747	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	53271	34953747	13176148	3844	81662											
ITSN1	6453	broad.mit.edu	37	chr21	35257786	35257786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attggaaggttgatggtgaaCgtggttgaaggcatcgagtt	10	12	16	3	2	0	3	0	3	0	0	1	5	0	4	0	5	1	4	0	5	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:35257786C>T	ENST00000381318.3	+	38	5091	c.4803C>T	c.(4801-4803)aaC>aaT	p.N1601N	ITSN1_ENST00000437442.2_Silent_p.N1540N|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.N1596N|ITSN1_ENST00000381285.4_Silent_p.N1601N	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1601	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGATGGTGAACGTGGTTGAAG	0.547													32	98					0	0	0	0	T	35257786	C	T	35257786	2	4	408	1	0	0	0	0	0	0	0	1	7979	535	19	1		1	ITSN1	21	35257786	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	304039	35257786	12872109	3845	81663											
DOPEY2	9980	broad.mit.edu	37	chr21	37660372	37660372	+	Frame_Shift_Del	DEL	T	T	-																															agttgctgctcagatgtttcTttttttcagagttttgctgc																								rs34641375		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:37660372delT	ENST00000399151.3	+	33	6306	c.6221delT	c.(6220-6222)ctfs	p.L2074fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2074					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				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						CAGATGTTTCTTTTTTTCAGA	0.373													7	137	---	---	---	---					-	37660372	T	-	37660372	7	5	408	1	0	1	0	1	0	0	0	0	4744	1609	56	0	6347	0	DOPEY2	21	37660372	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	2402586	37660372	10469523	3846	81664											
MORC3	23515	broad.mit.edu	37	chr21	37742095	37742095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagtaaaagtgaaatggAtgagatggctgtgcagcttg	13	10	15	3	0	0	3	0	3	0	2	0	6	0	4	0	2	2	4	0	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:37742095A>G	ENST00000400485.1	+	15	2505	c.2429A>G	c.(2428-2430)gAt>gGt	p.D810G	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	810					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGTGAAATGGATGAGATGGCT	0.393													63	139					0	0	0	0	G	37742095	A	G	37742095	3	3	408	1	0	0	0	0	1	0	0	0	9773	333	12	5	2487	5	MORC3	21	37742095	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	81723	37742095	10387800	3847	81665											
HLCS	3141	broad.mit.edu	37	chr21	38308878	38308878	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggggccttcctggtacctGcagccactgctcaagacgct	7	8	11	15	2	1	1	1	0	0	1	2	1	2	1	4	3	4	4	4	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:38308878G>A	ENST00000399120.1	-	5	2097	c.867C>T	c.(865-867)tgC>tgT	p.C289C	HLCS_ENST00000336648.3_Silent_p.C289C	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	289					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGTACCTGCAGCCACTGC	0.582													43	99					0	0	0	0	A	38308878	G	A	38308878	2	1	408	1	0	0	0	0	0	0	0	1	7263	1311	46	4		4	HLCS	21	38308878	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	566783	38308878	9821017	3848	81666											
TTC3	7267	broad.mit.edu	37	chr21	38462567	38462567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattggaggcttattgagaaTtggttgtaaaatagaaaatg	15	14	11	1	0	0	2	0	1	0	2	0	4	0	3	0	3	0	3	0	3	8	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:38462567T>C	ENST00000399017.2	+	6	3208	c.461T>C	c.(460-462)aTt>aCt	p.I154T	TTC3_ENST00000399010.1_Missense_Mutation_p.I154T|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.I154T|TTC3_ENST00000354749.2_Missense_Mutation_p.I154T|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	154					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTATTGAGAATTGGTTGTAAA	0.358													15	34					0	0	0	0	C	38462567	T	C	38462567	3	2	408	1	0	0	0	0	1	0	0	0	16793	1493	52	5	479	5	TTC3	21	38462567	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	153689	38462567	9667328	3849	81667											
TTC3	7267	broad.mit.edu	37	chr21	38523186	38523186	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaacagaaatgttctaggTaagatttttaacaatcaatc	17	13	6	5	0	2	3	1	1	1	2	3	3	2	3	0	1	2	2	0	1	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:38523186T>C	ENST00000399017.2	+	25	5023		c.e25+2		TTC3_ENST00000540756.1_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATGTTCTAGGTAAGATTTTTA	0.289													4	48					0	0	0	0	C	38523186	T	C	38523186	5	2	408	1	0	0	0	0	0	0	1	0	16793	1652	57	5	2372	5	TTC3	21	38523186	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	60619	38523186	9606709	3850	81668											
ETS2	2114	broad.mit.edu	37	chr21	40186267	40186267	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagtcaagccttaaaagcTaccttcagtggcttcaaaaa	15	10	7	9	0	3	1	3	1	0	0	3	1	3	1	2	1	3	2	2	1	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:40186267T>C	ENST00000360214.3	+	5	715	c.255T>C	c.(253-255)gcT>gcC	p.A85A	ETS2_ENST00000360938.3_Silent_p.A85A	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	85	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CCTTAAAAGCTACCTTCAGTG	0.512													34	90					0	0	0	0	C	40186267	T	C	40186267	2	2	408	1	0	0	0	0	0	0	0	1	5314	1509	53	5		5	ETS2	21	40186267	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1663081	40186267	7943628	3851	81669											
BRWD1	54014	broad.mit.edu	37	chr21	40630422	40630422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatttattacctctccgggGtgtttcttcaccatttgaaa	8	17	6	10	1	3	1	1	1	2	0	4	1	3	1	3	2	1	1	3	2	4	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:40630422G>A	ENST00000342449.3	-	18	2140	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	BRWD1_ENST00000380800.3_Missense_Mutation_p.P688S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P688S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTCTCCGGGGTGTTTCTTCA	0.388													58	161					0	0	0	0	A	40630422	G	A	40630422	3	1	408	1	0	0	0	0	1	0	0	0	1533	1261	44	4	5239	4	BRWD1	21	40630422	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	444155	40630422	7499473	3852	81670											
DSCAM	1826	broad.mit.edu	37	chr21	41385310	41385310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggcaaatgtatgaggTcacctagaaggaaagacagg	16	6	14	5	0	1	3	1	1	0	2	1	5	1	5	1	5	0	2	1	5	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:41385310T>C	ENST00000400454.1	-	33	6167	c.5690A>G	c.(5689-5691)gAc>gGc	p.D1897G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1897				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTATGAGGTCACCTAGAAG	0.488													6	42					0	0	0	0	C	41385310	T	C	41385310	3	2	408	1	0	0	0	0	1	0	0	0	4804	1667	58	5	352	5	DSCAM	21	41385310	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	754888	41385310	6744585	3853	81671											
DSCAM	1826	broad.mit.edu	37	chr21	41452138	41452138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggcccactccatttTgggctgtcagtgtgaactta	6	12	11	12	0	1	1	1	1	0	0	2	1	2	1	3	2	1	1	3	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:41452138T>C	ENST00000400454.1	-	25	4838	c.4361A>G	c.(4360-4362)cAa>cGa	p.Q1454R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1454	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTCCATTTTGGGCTGTCAG	0.458													14	125					0	0	0	0	C	41452138	T	C	41452138	3	2	408	1	0	0	0	0	1	0	0	0	4804	1812	63	5	1713	5	DSCAM	21	41452138	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	66828	41452138	6677757	3854	81672											
DSCAM	1826	broad.mit.edu	37	chr21	41711055	41711055	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacaagcacctcttacgtTtattcgagcctggtacagga	10	12	9	10	2	1	1	0	1	1	0	2	3	1	2	2	2	4	3	2	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:41711055T>C	ENST00000400454.1	-	7	1975	c.1498A>G	c.(1498-1500)Aac>Gac	p.N500D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	500	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTCTTACGTTTATTCGAGCC	0.517													20	52					0	0	0	0	C	41711055	T	C	41711055	3	2	408	1	0	0	0	0	1	0	0	0	4804	1841	64	5	4648	5	DSCAM	21	41711055	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	258917	41711055	6418840	3855	81673											
RIPK4	54101	broad.mit.edu	37	chr21	43161737	43161737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggccacgtgcatgggcGtccggccctcaaagtccacc	7	5	13	16	3	1	0	1	0	0	0	3	0	3	0	5	4	1	2	5	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43161737G>A	ENST00000352483.2	-	9	1824	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M	RIPK4_ENST00000544709.1_Missense_Mutation_p.T476M|RIPK4_ENST00000542057.1_Missense_Mutation_p.T476M|RIPK4_ENST00000332512.3_Missense_Mutation_p.T539M			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	539						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCATGGGCGTCCGGCCCTC	0.647													10	55					0	0	0	0	A	43161737	G	A	43161737	3	1	408	1	0	0	0	0	1	0	0	0	13468	1145	40	1	742	1	RIPK4	21	43161737	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1450682	43161737	4968158	3856	81674											
RIPK4	54101	broad.mit.edu	37	chr21	43162146	43162146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttctggacgtctgTggtgcccagatctgcaggga	5	13	12	11	1	5	1	0	0	5	1	5	3	5	3	1	3	2	1	1	3	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43162146T>C	ENST00000352483.2	-	9	1415	c.1351A>G	c.(1351-1353)Aca>Gca	p.T451A	RIPK4_ENST00000544709.1_Missense_Mutation_p.T340A|RIPK4_ENST00000542057.1_Missense_Mutation_p.T340A|RIPK4_ENST00000332512.3_Missense_Mutation_p.T403A			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	403						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGACGTCTGTGGTGCCCAGA	0.617													8	287					0	0	0	0	C	43162146	T	C	43162146	3	2	408	1	0	0	0	0	1	0	0	0	13468	1696	59	5	1151	5	RIPK4	21	43162146	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	409	43162146	4967749	3857	81675											
RIPK4	54101	broad.mit.edu	37	chr21	43165917	43165917	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgtgggaaggactcgttAcctcgctcctgggctccggg	4	9	14	14	3	0	0	0	0	0	0	4	2	2	2	4	4	1	3	4	4	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43165917A>G	ENST00000352483.2	-	7	1145		c.e7+1		RIPK4_ENST00000544709.1_Splice_Site|RIPK4_ENST00000542057.1_Splice_Site|RIPK4_ENST00000332512.3_Splice_Site			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4							cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGACTCGTTACCTCGCTCCT	0.567													41	91					0	0	0	0	G	43165917	A	G	43165917	5	3	408	1	0	0	0	0	0	0	1	0	13468	405	14	5	1428	5	RIPK4	21	43165917	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3771	43165917	4963978	3858	81676											
PRDM15	63977	broad.mit.edu	37	chr21	43242348	43242348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaggagatcccgatctTgccgataaactcttccctct	8	12	7	14	3	3	1	0	0	3	1	6	5	6	1	4	1	2	0	4	1	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43242348T>C	ENST00000422911.1	-	16	2079	c.1978A>G	c.(1978-1980)Aag>Gag	p.K660E	PRDM15_ENST00000269844.3_Missense_Mutation_p.K969E|PRDM15_ENST00000447207.2_Missense_Mutation_p.K603E|PRDM15_ENST00000538201.1_Missense_Mutation_p.K623E|PRDM15_ENST00000398548.1_Missense_Mutation_p.K640E			P57071	PRD15_HUMAN	PR domain containing 15	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ATCCCGATCTTGCCGATAAAC	0.547													5	122					0	0	0	0	C	43242348	T	C	43242348	3	2	408	1	0	0	0	0	1	0	0	0	12536	1821	63	5	1658	5	PRDM15	21	43242348	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	76431	43242348	4887547	3859	81677											
WDR4	10785	broad.mit.edu	37	chr21	44274700	44274700	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caggagcgccacgcagttctCctggcaccagaatgcaatcc	10	6	10	15	2	1	1	0	0	1	1	3	2	2	2	4	2	2	4	4	2	2	1	rs111539710		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:44274700C>G	ENST00000398208.2	-	8	822	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.E255Q	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	255					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		ACGCAGTTCTCCTGGCACCAG	0.622													10	34					0	0	0	0	G	44274700	C	G	44274700	3	3	408	1	0	0	0	0	1	0	0	0	17389	864	30	2	491	2	WDR4	21	44274700	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1032352	44274700	3855195	3860	81678											
CRYAA	1409	broad.mit.edu	37	chr21	44589244	44589244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacccctggttcaagcGcaccctggggcccttctacc	6	7	9	19	1	2	0	1	0	1	0	2	0	2	0	6	3	3	3	6	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:44589244G>A	ENST00000291554.2	+	1	127	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	12					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TGGTTCAAGCGCACCCTGGGG	0.632													39	101					0	0	0	0	A	44589244	G	A	44589244	3	1	408	1	0	0	0	0	1	0	0	0	3935	1087	38	1	37	1	CRYAA	21	44589244	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	314544	44589244	3540651	3861	81679											
PDXK	8566	broad.mit.edu	37	chr21	45168916	45168916	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtctacaaagaaaaagTggtgccgcttgcagacatta	13	9	9	10	2	1	2	0	0	1	2	2	2	2	2	2	1	3	2	2	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45168916T>C	ENST00000291565.4	+	6	602	c.419T>C	c.(418-420)gTg>gCg	p.V140A	PDXK_ENST00000468090.1_Missense_Mutation_p.V112A|PDXK_ENST00000467908.1_Missense_Mutation_p.V100A	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	140					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	AAAGAAAAAGTGGTGCCGCTT	0.483													9	99					0	0	0	0	C	45168916	T	C	45168916	3	2	408	1	0	0	0	0	1	0	0	0	11768	1696	59	5	441	5	PDXK	21	45168916	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	579672	45168916	2960979	3862	81680											
TRAPPC10	7109	broad.mit.edu	37	chr21	45457779	45457779	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctctgctcacgtttcccTtcctccatatttactggaca	8	14	5	14	1	2	0	1	0	1	0	5	1	5	1	3	1	3	3	3	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45457779T>C	ENST00000291574.4	+	3	431	c.256T>C	c.(256-258)Ttc>Ctc	p.F86L	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.F86L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	86					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CACGTTTCCCTTCCTCCATAT	0.522													44	114					0	0	0	0	C	45457779	T	C	45457779	3	2	408	1	0	0	0	0	1	0	0	0	16552	1609	56	5	266	5	TRAPPC10	21	45457779	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	288863	45457779	2672116	3863	81681											
PWP2	5822	broad.mit.edu	37	chr21	45540617	45540617	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggcgcaggactccttTgagattttcgtgtggtccat	6	12	14	9	2	0	1	0	1	0	1	3	3	2	2	2	4	0	2	2	4	0	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45540617T>C	ENST00000291576.7	+	12	1570	c.1443T>C	c.(1441-1443)ttT>ttC	p.F481F		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	481						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGGACTCCTTTGAGATTTTCG	0.627													9	101					0	0	0	0	C	45540617	T	C	45540617	2	2	408	1	0	0	0	0	0	0	0	1	12926	1809	63	5		5	PWP2	21	45540617	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	82838	45540617	2589278	3864	81682											
C21orf33	8209	broad.mit.edu	37	chr21	45555967	45555967	+	Frame_Shift_Del	DEL	G	G	-																															tggtgcacctgagccgtggaGgggctgaagtccagatcttt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45555967delG	ENST00000291577.6	+	3	313	c.220delG	c.(220-222)ggfs	p.G74fs	C21orf33_ENST00000427803.2_Frame_Shift_Del_p.G74fs|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Frame_Shift_Del_p.G74fs	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	74						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GAGCCGTGGAGGGGCTGAAGT	0.552													9	30	---	---	---	---					-	45555967	G	-	45555967	7	5	408	1	0	1	0	1	0	0	0	0	2145	1000	35	0	230	0	C21orf33	21	45555967	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	15350	45555967	2573928	3865	81683											
DNMT3L	29947	broad.mit.edu	37	chr21	45668930	45668930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttatggctgggatgttgCtccacacgcggacagcattc	7	11	11	12	2	0	0	0	0	0	0	3	2	2	2	2	3	2	4	2	3	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45668930C>T	ENST00000270172.3	-	11	1457	c.974G>A	c.(973-975)aGc>aAc	p.S325N	DNMT3L_ENST00000418993.1_Missense_Mutation_p.S325N	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	325					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGGGATGTTGCTCCACACGCG	0.612													5	19					0	0	0	0	T	45668930	C	T	45668930	3	4	408	1	0	0	0	0	1	0	0	0	4714	797	28	4	197	4	DNMT3L	21	45668930	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	112963	45668930	2460965	3866	81684											
PFKL	5211	broad.mit.edu	37	chr21	45745855	45745855	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccagggtggcgctccAaccccctttgaccggaacta	7	10	10	14	2	0	1	0	1	0	0	2	2	2	2	5	3	2	2	5	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45745855A>G	ENST00000403390.1	+	21	2142	c.2142A>G	c.(2140-2142)ccA>ccG	p.P714P	PFKL_ENST00000349048.4_Silent_p.P667P			P17858	K6PL_HUMAN	phosphofructokinase, liver	667					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GTGGCGCTCCAACCCCCTTTG	0.652													10	23					0	0	0	0	G	45745855	A	G	45745855	2	3	408	1	0	0	0	0	0	0	0	1	11836	117	5	5		5	PFKL	21	45745855	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	76925	45745855	2384040	3867	81685											
TRPM2	7226	broad.mit.edu	37	chr21	45833830	45833830	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaccgacccctacaagcctAagtgccccgagagcgacgcg	10	3	11	17	5	0	1	0	0	0	1	0	4	0	1	6	0	4	1	6	0	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45833830A>G	ENST00000397928.1	+	20	3464	c.3019A>G	c.(3019-3021)Aag>Gag	p.K1007E	TRPM2_ENST00000300481.9_Missense_Mutation_p.K987E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.K1007E|TRPM2_ENST00000397932.2_Missense_Mutation_p.K1007E	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1007						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTACAAGCCTAAGTGCCCCGA	0.612													5	433					0	0	0	0	G	45833830	A	G	45833830	3	3	408	1	0	0	0	0	1	0	0	0	16681	363	13	5	3097	5	TRPM2	21	45833830	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	87975	45833830	2296065	3868	81686											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999955	45999955	+	Frame_Shift_Del	DEL	G	G	-																															acgtagcaggactgctggcaGggggaggaggtgcagcaagt																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45999955delG	ENST00000400372.1	-	1	526	c.501delC	c.(499-501)ccfs	p.P167fs	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	167	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ACTGCTGGCAGGGGGAGGAGG	0.597													103	359	---	---	---	---					-	45999955	G	-	45999955	7	5	408	1	0	1	0	1	0	0	0	0	8564	987	35	0	318	0	KRTAP10-5	21	45999955	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	166125	45999955	2129940	3869	81687											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057661	46057661	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgctgcgtgcccgtctgTaacaagcctgtgtgcttcgt	4	13	12	12	3	2	0	0	0	2	0	3	0	2	0	2	0	6	3	2	0	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46057661T>C	ENST00000380095.1	+	1	389	c.327T>C	c.(325-327)tgT>tgC	p.C109C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	109	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						tgcccgtctgtaacaagcctg	0.632													59	195					0	0	0	0	C	46057661	T	C	46057661	2	2	408	1	0	0	0	0	0	0	0	1	8558	1644	57	5		5	KRTAP10-10	21	46057661	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	57706	46057661	2072234	3870	81688											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066709	46066709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaagactgtctgctgcaagCctgtgtgctgtgtgcctgtc	5	12	13	11	0	1	1	0	0	1	1	2	1	1	1	2	0	5	4	2	0	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46066709C>A	ENST00000334670.8	+	1	379	c.334C>A	c.(334-336)Cct>Act	p.P112T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	107	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						ctgctgcaagcctgtgtgctg	0.647													20	252					3.86903e-22	4.0874e-22	1	0	A	46066709	C	A	46066709	3	1	408	1	0	0	0	0	1	0	0	0	8559	739	26	4	336	4	KRTAP10-11	21	46066709	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	9048	46066709	2063186	3871	81689											
KRTAP12-1	353332	broad.mit.edu	37	chr21	46101779	46101779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggggtgctgcaggagatgGgtctgcagaggacgctggtg	8	7	20	6	1	1	2	0	0	1	2	1	4	1	3	0	6	3	4	0	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46101779G>T	ENST00000391617.1	-	1	299	c.260C>A	c.(259-261)cCc>cAc	p.P87H	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	87	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GCAGGAGATGGGTCTGCAGAG	0.642													4	115					0.150653	0.150988	1	0	T	46101779	G	T	46101779	3	4	408	1	0	0	0	0	1	0	0	0	8570	1232	43	4	34	4	KRTAP12-1	21	46101779	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	35070	46101779	2028116	3872	81690											
SLC19A1	6573	broad.mit.edu	37	chr21	46950805	46950805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagccccgcctgcgtggCcgtgacgcccgcgatgagca	6	4	14	17	6	0	2	0	2	0	0	0	4	0	2	6	1	3	1	6	1	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46950805C>T	ENST00000311124.4	-	4	1182	c.1030G>A	c.(1030-1032)Gcc>Acc	p.A344T	SLC19A1_ENST00000567670.1_Missense_Mutation_p.A344T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A304T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A344T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	344					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCCTGCGTGGCCGTGACGCCC	0.692													3	14					0	0	0	0	T	46950805	C	T	46950805	3	4	408	1	0	0	0	0	1	0	0	0	14516	739	26	4	757	4	SLC19A1	21	46950805	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	849026	46950805	1179090	3873	81691											
SLC19A1	6573	broad.mit.edu	37	chr21	46951392	46951392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttccacaggatgtgcacgTagtagaccaccaggtagtag	11	8	12	10	2	0	1	0	0	0	1	1	2	1	2	3	2	1	6	3	2	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46951392T>C	ENST00000311124.4	-	3	1012	c.860A>G	c.(859-861)tAc>tGc	p.Y287C	SLC19A1_ENST00000567670.1_Missense_Mutation_p.Y287C|SLC19A1_ENST00000485649.2_Missense_Mutation_p.Y247C|SLC19A1_ENST00000380010.4_Missense_Mutation_p.Y287C	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	287					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GATGTGCACGTAGTAGACCAC	0.667													18	161					0	0	0	0	C	46951392	T	C	46951392	3	2	408	1	0	0	0	0	1	0	0	0	14516	1638	57	5	931	5	SLC19A1	21	46951392	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	587	46951392	1178503	3874	81692											
PCBP3	54039	broad.mit.edu	37	chr21	47360108	47360108	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccagtatctcatcaaCgccaggtgagcatctcccaa	10	9	7	15	1	3	1	2	1	2	0	5	1	3	1	3	1	3	2	3	1	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47360108C>T	ENST00000400314.1	+	15	1412	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	PCBP3_ENST00000400309.1_Silent_p.N357N|PCBP3_ENST00000400310.1_Silent_p.N338N|PCBP3_ENST00000400308.1_Silent_p.N332N|PCBP3_ENST00000400304.1_Silent_p.N348N|PCBP3_ENST00000449640.1_Silent_p.N358N|PCBP3_ENST00000468429.1_3'UTR			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	358					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.N326N(1)|p.N358N(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		ATCTCATCAACGCCAGGTGAG	0.627													15	48					0	0	0	0	T	47360108	C	T	47360108	2	4	408	1	0	0	0	0	0	0	0	1	11573	535	19	1		1	PCBP3	21	47360108	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	408716	47360108	769787	3875	81693											
COL6A2	1292	broad.mit.edu	37	chr21	47536294	47536294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcctgcccccagggcGttcctggcttcaaaggagag	6	9	11	15	1	2	1	1	0	1	1	5	2	4	1	5	3	1	2	5	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47536294G>A	ENST00000300527.4	+	8	1008	c.904G>A	c.(904-906)Gtt>Att	p.V302I	COL6A2_ENST00000409416.1_Missense_Mutation_p.V302I|COL6A2_ENST00000397763.1_Missense_Mutation_p.V302I|COL6A2_ENST00000310645.5_Missense_Mutation_p.V302I|COL6A2_ENST00000357838.4_Missense_Mutation_p.V302I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	302	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGGGCGTTCCTGGCTT	0.667													17	43					0	0	0	0	A	47536294	G	A	47536294	3	1	408	1	0	0	0	0	1	0	0	0	3730	1145	40	1	930	1	COL6A2	21	47536294	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	176186	47536294	593601	3876	81694											
COL6A2	1292	broad.mit.edu	37	chr21	47552155	47552155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaactccttctcgcacGtgggcgcaggcgtggtgcac	6	8	13	14	4	1	1	0	1	1	0	3	1	2	1	2	3	2	3	2	3	1	1	rs145381639		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47552155G>A	ENST00000300527.4	+	28	2853	c.2749G>A	c.(2749-2751)Gtg>Atg	p.V917M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	917	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTTCTCGCACGTGGGCGCAGG	0.682													6	10					0	0	0	0	A	47552155	G	A	47552155	3	1	408	1	0	0	0	0	1	0	0	0	3730	1145	40	1	3185	1	COL6A2	21	47552155	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	15861	47552155	577740	3877	81695											
MCM3AP	8888	broad.mit.edu	37	chr21	47704204	47704204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaataaagtacctccccGgggtcgattcaggcggacag	12	6	11	12	3	1	0	1	0	0	0	3	2	2	1	4	4	1	1	4	4	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47704204G>A	ENST00000397708.1	-	2	1251	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R333W			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	333			R -> L (in dbSNP:rs17182552).		DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTACCTCCCCGGGGTCGATTC	0.537													42	160					0	0	0	0	A	47704204	G	A	47704204	3	1	408	1	0	0	0	0	1	0	0	0	9457	1115	39	1	5057	1	MCM3AP	21	47704204	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	152049	47704204	425691	3878	81696											
PCNT	5116	broad.mit.edu	37	chr21	47769663	47769663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacgtgaagacctgcagTccgagcacggccggtgttta	9	9	13	10	4	0	2	0	1	0	1	1	3	1	2	3	2	3	4	3	2	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47769663T>C	ENST00000359568.5	+	8	1380	c.1273T>C	c.(1273-1275)Tcc>Ccc	p.S425P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	425	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGACCTGCAGTCCGAGCACGG	0.473													6	146					0	0	0	0	C	47769663	T	C	47769663	3	2	408	1	0	0	0	0	1	0	0	0	11661	1667	58	5	1303	5	PCNT	21	47769663	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	65459	47769663	360232	3879	81697											
PCNT	5116	broad.mit.edu	37	chr21	47848441	47848441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaagctgcagcacttgCgcacggcgctgacaagcgca	11	4	14	12	4	0	2	0	1	0	1	0	3	0	2	0	2	5	6	0	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47848441C>T	ENST00000359568.5	+	35	7734	c.7627C>T	c.(7627-7629)Cgc>Tgc	p.R2543C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2543					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.R2543C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCACTTGCGCACGGCGCT	0.692													8	18					0	0	0	0	T	47848441	C	T	47848441	3	4	408	1	0	0	0	0	1	0	0	0	11661	768	27	1	7765	1	PCNT	21	47848441	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	78778	47848441	281454	3880	81698											
S100B	6285	broad.mit.edu	37	chr21	48019297	48019297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcatgttcaaagaactcGtggcaggcagtagtaaccat	13	9	9	10	1	2	1	2	0	0	1	3	1	2	1	1	2	2	5	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:48019297G>C	ENST00000291700.4	-	3	454	c.258C>G	c.(256-258)caC>caG	p.H86Q	S100B_ENST00000367071.4_3'UTR|S100B_ENST00000397648.1_Missense_Mutation_p.H86Q	NM_006272.2	NP_006263.1	P04271	S100B_HUMAN	S100 calcium binding protein B	86					axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)		CAAAGAACTCGTGGCAGGCAG	0.473													4	125					0	0	0	0	C	48019297	G	C	48019297	3	2	408	1	0	0	0	0	1	0	0	0	13873	1136	40	3	24	3	S100B	21	48019297	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	170856	48019297	110598	3881	81699											
XKR3	150165	broad.mit.edu	37	chr22	17265161	17265161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgagataacctccaaaAaacgccacatcacgacacag	17	4	6	14	3	1	1	1	1	0	1	2	3	2	1	3	0	2	0	3	0	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17265161A>G	ENST00000331428.5	-	4	830	c.728T>C	c.(727-729)tTt>tCt	p.F243S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	243						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACCTCCAAAAAACGCCACAT	0.423													9	50					0	0	0	0	G	17265161	A	G	17265161	3	3	408	1	0	0	0	0	1	0	0	0	17528	14	1	5	655	5	XKR3	22	17265161	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08		17265161	34039405	3882	81700											
IL17RA	23765	broad.mit.edu	37	chr22	17589322	17589322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccagttcctgctcaccGcctgcggcacggaagtggcc	5	7	12	17	4	1	0	1	0	0	0	3	1	2	1	5	3	2	3	5	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17589322G>A	ENST00000319363.6	+	13	1346	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	405	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCTGCTCACCGCCTGCGGCAC	0.637													22	59					0	0	0	0	A	17589322	G	A	17589322	3	1	408	1	0	0	0	0	1	0	0	0	7692	1087	38	1	1263	1	IL17RA	22	17589322	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	324161	17589322	33715244	3883	81701											
IL17RA	23765	broad.mit.edu	37	chr22	17589746	17589746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgttccagccgggccGcatgcaccgcgtaggggagc	7	5	17	12	4	0	1	0	0	0	1	1	3	1	2	4	4	3	4	4	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17589746G>A	ENST00000319363.6	+	13	1770	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	546					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGCCGGGCCGCATGCACCGC	0.706													4	10					0	0	0	0	A	17589746	G	A	17589746	3	1	408	1	0	0	0	0	1	0	0	0	7692	1087	38	1	1687	1	IL17RA	22	17589746	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	424	17589746	33714820	3884	81702											
CECR1	51816	broad.mit.edu	37	chr22	17662422	17662422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccatctcttcttccagAtttccatgaaagtatttttc	9	18	3	11	0	2	2	0	1	2	1	7	2	5	2	3	0	0	1	3	0	3	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17662422A>T	ENST00000399839.1	-	10	1757	c.1487T>A	c.(1486-1488)aTc>aAc	p.I496N	CECR1_ENST00000399837.2_Missense_Mutation_p.I496N|CECR1_ENST00000330232.4_Missense_Mutation_p.I255N|CECR1_ENST00000449907.2_Missense_Mutation_p.I454N|CECR1_ENST00000262607.3_Missense_Mutation_p.I496N			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	496					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTTCTTCCAGATTTCCATGAA	0.522													9	332					0	0	0	0	T	17662422	A	T	17662422	3	4	408	1	0	0	0	0	1	0	0	0	3234	333	12	5	52	5	CECR1	22	17662422	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	72676	17662422	33642144	3885	81703											
CECR2	27443	broad.mit.edu	37	chr22	18022173	18022173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatgggaaccatggtgctAcgaaccaaggacccttgggc	11	6	14	10	1	0	0	0	0	0	0	0	4	0	3	3	5	4	1	3	5	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18022173A>G	ENST00000262608.8	+	15	2278	c.2278A>G	c.(2278-2280)Acg>Gcg	p.T760A	CECR2_ENST00000400573.4_Missense_Mutation_p.T759A|CECR2_ENST00000400585.2_Missense_Mutation_p.T618A	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	801					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCATGGTGCTACGAACCAAGG	0.552													14	55					0	0	0	0	G	18022173	A	G	18022173	3	3	408	1	0	0	0	0	1	0	0	0	3235	391	14	5	2335	5	CECR2	22	18022173	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	359751	18022173	33282393	3886	81704											
ATP6V1E1	529	broad.mit.edu	37	chr22	18111367	18111367	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacccaaccaagcccctcAcctgcttttgcacgtcagca	11	7	6	17	1	2	1	2	0	0	1	2	1	2	1	5	0	5	3	5	0	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18111367A>G	ENST00000253413.5	-	1	216		c.e1+1		ATP6V1E1_ENST00000399796.2_Splice_Site|ATP6V1E1_ENST00000399798.2_Splice_Site|ATP6V1E1_ENST00000478963.1_Splice_Site	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1						cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		CAAGCCCCTCACCTGCTTTTG	0.632													49	266					0	0	0	0	G	18111367	A	G	18111367	5	3	408	1	0	0	0	0	0	0	1	0	1187	173	6	5	681	5	ATP6V1E1	22	18111367	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	89194	18111367	33193199	3887	81705											
BCL2L13	23786	broad.mit.edu	37	chr22	18209480	18209480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtcagaggaggaggaatAccctggaatcactgcagaag	14	6	14	7	0	2	3	2	1	0	2	2	7	2	7	1	4	2	1	1	4	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18209480A>G	ENST00000355028.3	+	5	550	c.424A>G	c.(424-426)Acc>Gcc	p.T142A	BCL2L13_ENST00000538149.1_Missense_Mutation_p.Y89C|BCL2L13_ENST00000337612.5_Missense_Mutation_p.Y51C|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000317582.5_Missense_Mutation_p.Y213C|BCL2L13_ENST00000543133.1_Missense_Mutation_p.Y51C|BCL2L13_ENST00000485631.1_3'UTR	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	357					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGGAGGAATACCCTGGAATC	0.438													21	48					0	0	0	0	G	18209480	A	G	18209480	3	3	408	1	0	0	0	0	1	0	0	0	1375	391	14	5	660	5	BCL2L13	22	18209480	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	98113	18209480	33095086	3888	81706											
BID	637	broad.mit.edu	37	chr22	18226677	18226677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctcgtggcccagtgCgtccagctctctgcggaagc	5	8	14	14	3	1	0	0	0	1	0	4	1	2	1	2	3	5	3	2	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18226677C>T	ENST00000317361.7	-	3	579	c.253G>A	c.(253-255)Gca>Aca	p.A85T	BID_ENST00000473439.1_5'UTR|BID_ENST00000551952.1_Missense_Mutation_p.A39T|BID_ENST00000399767.1_5'UTR|BID_ENST00000342111.5_Missense_Mutation_p.A39T|BID_ENST00000399765.1_Intron|BID_ENST00000399774.3_Missense_Mutation_p.A39T	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	39					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TGGCCCAGTGCGTCCAGCTCT	0.587													37	94					0	0	0	0	T	18226677	C	T	18226677	3	4	408	1	0	0	0	0	1	0	0	0	1435	768	27	1	488	1	BID	22	18226677	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	17197	18226677	33077889	3889	81707											
HIRA	7290	broad.mit.edu	37	chr22	19373150	19373150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagctgctgctgctgcTgccttcgctggtacttgagc	3	12	13	13	1	0	1	0	1	0	0	2	1	1	1	2	2	8	7	2	2	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19373150T>C	ENST00000263208.5	-	12	1479	c.1223A>G	c.(1222-1224)cAg>cGg	p.Q408R	HIRA_ENST00000541063.1_Missense_Mutation_p.Q364R|HIRA_ENST00000340170.4_Missense_Mutation_p.Q408R|HIRA_ENST00000546308.1_Missense_Mutation_p.Q364R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	408	Poly-Gln.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTGCTGCTGCTGCCTTCGCTG	0.587													17	48					0	0	0	0	C	19373150	T	C	19373150	3	2	408	1	0	0	0	0	1	0	0	0	7170	1580	55	5	1886	5	HIRA	22	19373150	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1146473	19373150	31931416	3890	81708											
SEPT5	5413	broad.mit.edu	37	chr22	19709193	19709193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgccgttataggcagcAacacggtggtggaggccaag	9	7	14	11	3	0	0	0	0	0	0	1	1	0	1	3	5	2	3	3	5	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19709193A>G	ENST00000438754.2	+	8	1055	c.775A>G	c.(775-777)Aac>Gac	p.N259D	SEPT5_ENST00000455784.2_Missense_Mutation_p.N250D|SEPT5_ENST00000406395.1_Missense_Mutation_p.N250D|SEPT5_ENST00000383045.3_Missense_Mutation_p.N259D	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	250					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TATAGGCAGCAACACGGTGGT	0.642													7	117					0	0	0	0	G	19709193	A	G	19709193	3	3	408	1	0	0	0	0	1	0	0	0	14154	130	5	5	782	5	SEPT5	22	19709193	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	336043	19709193	31595373	3891	81709											
GNB1L	54584	broad.mit.edu	37	chr22	19776318	19776318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggcggtgaaggccacgcActggacagcggcgctgtgga	8	5	17	11	5	0	1	0	1	0	0	1	3	0	3	1	6	1	2	1	6	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19776318A>G	ENST00000329517.6	-	8	1134	c.898T>C	c.(898-900)Tgc>Cgc	p.C300R	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.C300R	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	300					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AAGGCCACGCACTGGACAGCG	0.677													4	61					0	0	0	0	G	19776318	A	G	19776318	3	3	408	1	0	0	0	0	1	0	0	0	6567	159	6	5	89	5	GNB1L	22	19776318	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	67125	19776318	31528248	3892	81710											
TXNRD2	10587	broad.mit.edu	37	chr22	19864630	19864630	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctgcagggatggcgcttAccctcagcagcctgtcaccg	6	7	13	15	2	2	0	2	0	0	0	2	1	2	1	4	3	4	3	4	3	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19864630A>G	ENST00000400519.1	-	17	1569	c.1570T>C	c.(1570-1572)Taa>Caa	p.*524Q	TXNRD2_ENST00000400518.1_Nonstop_Mutation_p.*495Q|TXNRD2_ENST00000400521.1_Nonstop_Mutation_p.*525Q|TXNRD2_ENST00000400525.1_Nonstop_Mutation_p.*502Q|TXNRD2_ENST00000535882.1_3'UTR|TXNRD2_ENST00000542719.1_3'UTR			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GATGGCGCTTACCCTCAGCAG	0.662													3	33					0	0	0	0	G	19864630	A	G	19864630	4	3	408	1	0	0	0	0	0	0	0	0	16904	404	14	5	5	5	TXNRD2	22	19864630	Nonstop_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	88312	19864630	31439936	3893	81711											
ARVCF	421	broad.mit.edu	37	chr22	19967712	19967712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgtcaccattgggaacGcaggccgctcgtccgccagc	6	5	13	17	6	1	0	1	0	0	0	3	1	2	1	5	2	2	2	5	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19967712G>A	ENST00000263207.3	-	6	1241	c.950C>T	c.(949-951)gCg>gTg	p.A317V	ARVCF_ENST00000406522.1_Missense_Mutation_p.A254V|ARVCF_ENST00000406259.1_Missense_Mutation_p.A317V|ARVCF_ENST00000344269.3_Missense_Mutation_p.A254V|ARVCF_ENST00000401994.1_Missense_Mutation_p.A254V	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	317					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CATTGGGAACGCAGGCCGCTC	0.711													17	44					0	0	0	0	A	19967712	G	A	19967712	3	1	408	1	0	0	0	0	1	0	0	0	1007	1087	38	1	1994	1	ARVCF	22	19967712	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	103082	19967712	31336854	3894	81712											
RIMBP3	85376	broad.mit.edu	37	chr22	20457913	20457913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaccttaagcccatctGcatacacagcataaccggtg	14	7	6	14	1	1	0	0	0	1	0	1	0	1	0	3	1	6	2	3	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:20457913G>A	ENST00000426804.1	-	1	3873	c.3389C>T	c.(3388-3390)gCa>gTa	p.A1130V		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AAGCCCATCTGCATACACAGC	0.582													5	32					0	0	0	0	A	20457913	G	A	20457913	3	1	408	1	0	0	0	0	1	0	0	0	13447	1319	46	4	1534	4	RIMBP3	22	20457913	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	490201	20457913	30846653	3895	81713											
RIMBP3	85376	broad.mit.edu	37	chr22	20458649	20458649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcaccagcccccgccGgccatcctcaagctccccct	6	4	10	21	2	1	0	1	0	0	0	3	1	3	1	8	3	2	2	8	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:20458649G>A	ENST00000426804.1	-	1	3137	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGCCCCCGCCGGCCATCCTCA	0.597													9	45					0	0	0	0	A	20458649	G	A	20458649	3	1	408	1	0	0	0	0	1	0	0	0	13447	1115	39	1	2270	1	RIMBP3	22	20458649	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	736	20458649	30845917	3896	81714											
KLHL22	84861	broad.mit.edu	37	chr22	20796591	20796591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgtgcacgtagcctgtgcgGctgccgcggttgtgtgagcg	4	10	17	10	5	0	1	0	1	0	0	0	1	0	1	2	2	5	4	2	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:20796591G>T	ENST00000328879.4	-	7	1830	c.1674C>A	c.(1672-1674)agC>agA	p.S558R	KLHL22_ENST00000440659.2_Missense_Mutation_p.S415R	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	558					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCCTGTGCGGCTGCCGCGGT	0.612													18	54					0.00121646	0.00122927	1	0	T	20796591	G	T	20796591	3	4	408	1	0	0	0	0	1	0	0	0	8429	1194	42	4	234	4	KLHL22	22	20796591	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	337942	20796591	30507975	3897	81715											
YDJC	150223	broad.mit.edu	37	chr22	21982747	21982747	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggttccagagtgggcTcacaggggacctcctcccct	7	7	14	13	0	1	1	1	0	0	1	4	3	4	3	5	5	0	2	5	5	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:21982747T>G	ENST00000292778.6	-	5	981	c.932A>C	c.(931-933)gAg>gCg	p.E311A	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	311					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					CAGAGTGGGCTCACAGGGGAC	0.622													8	168					0	0	0	0	G	21982747	T	G	21982747	3	3	408	1	0	0	0	0	1	0	0	0	17567	1551	54	5	43	5	YDJC	22	21982747	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1186156	21982747	29321819	3898	81716											
ZNF70	7621	broad.mit.edu	37	chr22	24086066	24086066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacttgccgcacagattgCacacgtagggcttctctctg	8	10	11	12	2	2	1	0	0	2	1	3	2	2	2	1	2	2	4	1	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24086066C>T	ENST00000341976.3	-	2	1722	c.1262G>A	c.(1261-1263)tGc>tAc	p.C421Y		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	421						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GCACAGATTGCACACGTAGGG	0.557													5	232					0	0	0	0	T	24086066	C	T	24086066	3	4	408	1	0	0	0	0	1	0	0	0	18198	710	25	4	82	4	ZNF70	22	24086066	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2103319	24086066	27218500	3899	81717											
CABIN1	23523	broad.mit.edu	37	chr22	24479268	24479268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacagccttggagcagTgcttctactgcctgtacagc	8	10	12	11	0	1	1	0	0	1	1	1	3	1	2	2	2	7	3	2	2	2	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24479268T>C	ENST00000398319.2	+	20	3221	c.2836T>C	c.(2836-2838)Tgc>Cgc	p.C946R	CABIN1_ENST00000263119.5_Missense_Mutation_p.C946R|CABIN1_ENST00000405822.2_Missense_Mutation_p.C896R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	946					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTTGGAGCAGTGCTTCTACTG	0.582													18	29					0	0	0	0	C	24479268	T	C	24479268	3	2	408	1	0	0	0	0	1	0	0	0	2553	1696	59	5	2910	5	CABIN1	22	24479268	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	393202	24479268	26825298	3900	81718											
CABIN1	23523	broad.mit.edu	37	chr22	24515341	24515341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaactgtaggaaaaaaCgaggagtcattggagagtac	15	9	11	6	1	2	1	2	0	1	1	3	5	2	3	0	3	3	2	0	3	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24515341C>T	ENST00000398319.2	+	28	4693	c.4308C>T	c.(4306-4308)aaC>aaT	p.N1436N	CABIN1_ENST00000263119.5_Silent_p.N1436N|CABIN1_ENST00000405822.2_Silent_p.N1357N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1436					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAGGAAAAAACGAGGAGTCAT	0.547													12	56					0	0	0	0	T	24515341	C	T	24515341	2	4	408	1	0	0	0	0	0	0	0	1	2553	535	19	1		1	CABIN1	22	24515341	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	36073	24515341	26789225	3901	81719											
CABIN1	23523	broad.mit.edu	37	chr22	24563208	24563208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccgtgtgtggcagcaggGccagaagggtgtggcctatg	7	8	17	9	1	0	1	0	0	0	1	0	1	0	1	3	4	2	2	3	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24563208G>A	ENST00000398319.2	+	32	5994	c.5609G>A	c.(5608-5610)gGc>gAc	p.G1870D	CABIN1_ENST00000263119.5_Missense_Mutation_p.G1870D|CABIN1_ENST00000405822.2_Missense_Mutation_p.G1791D|CABIN1_ENST00000337989.7_Missense_Mutation_p.G295D|CABIN1_ENST00000485008.1_3'UTR	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1870					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGCAGCAGGGCCAGAAGGGT	0.627													10	34					0	0	0	0	A	24563208	G	A	24563208	3	1	408	1	0	0	0	0	1	0	0	0	2553	1203	42	4	5731	4	CABIN1	22	24563208	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	47867	24563208	26741358	3902	81720											
SUSD2	56241	broad.mit.edu	37	chr22	24580231	24580231	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtcaagtcgctgcccacGcagaccatcaccatcgaact	11	7	7	16	3	2	1	2	0	0	1	4	2	2	1	3	0	2	2	3	0	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24580231G>A	ENST00000358321.3	+	4	828	c.567G>A	c.(565-567)acG>acA	p.T189T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	189					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CGCTGCCCACGCAGACCATCA	0.612													26	70					0	0	0	0	A	24580231	G	A	24580231	2	1	408	1	0	0	0	0	0	0	0	1	15498	1074	38	1		1	SUSD2	22	24580231	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	17023	24580231	26724335	3903	81721											
GGT5	2687	broad.mit.edu	37	chr22	24622210	24622210	+	Frame_Shift_Del	DEL	C	C	-																															gatgagctgggccagggtctCccccagcaggtcccgggagg																								rs144862235		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24622210delC	ENST00000327365.4	-	8	1479	c.1063delG	c.(1063-1065)agfs	p.E355fs	GGT5_ENST00000398292.3_Frame_Shift_Del_p.E355fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.E278fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.E323fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	355					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GCCAGGGTCTCCCCCAGCAGG	0.677													33	55	---	---	---	---					-	24622210	C	-	24622210	7	5	408	1	0	1	0	1	0	0	0	0	6413	864	30	0	720	0	GGT5	22	24622210	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	41979	24622210	26682356	3904	81722											
PIWIL3	440822	broad.mit.edu	37	chr22	25130079	25130079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggtctagtatatttcCgtaatgtgtctatataggag	9	17	11	4	1	2	0	0	0	2	0	3	1	3	1	1	2	0	3	1	2	7	9	rs149915066		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:25130079C>T	ENST00000332271.5	-	14	2095	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R451Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R451Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	560					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTATATTTCCGTAATGTGTC	0.328													12	32					0	0	0	0	T	25130079	C	T	25130079	3	4	408	1	0	0	0	0	1	0	0	0	12031	652	23	1	1001	1	PIWIL3	22	25130079	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	507869	25130079	26174487	3905	81723											
SGSM1	129049	broad.mit.edu	37	chr22	25308672	25308672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagaacttcccccacGgaggcgccatggacacgcac	11	4	10	16	3	0	2	0	1	0	1	1	4	1	4	4	3	2	1	4	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:25308672G>A	ENST00000400358.4	+	22	2938	c.2881G>A	c.(2881-2883)Gga>Aga	p.G961R	SGSM1_ENST00000400359.4_Missense_Mutation_p.G1016R	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1016	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTCCCCCACGGAGGCGCCAT	0.512													5	21					0	0	0	0	A	25308672	G	A	25308672	3	1	408	1	0	0	0	0	1	0	0	0	14309	1117	39	1	3136	1	SGSM1	22	25308672	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	178593	25308672	25995894	3906	81724											
SEZ6L	23544	broad.mit.edu	37	chr22	26688852	26688852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggaccgaaaggagagtgCggtccctacaacacccgcac	11	4	12	14	3	0	1	0	0	0	1	1	4	1	2	3	3	3	2	3	3	3	1	rs138721720	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:26688852C>T	ENST00000529632.2	+	2	771	c.575C>T	c.(574-576)gCg>gTg	p.A192V	SEZ6L_ENST00000404234.3_Missense_Mutation_p.A192V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A192V|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A192V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A192V|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	192						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAGGAGAGTGCGGTCCCTACA	0.667													30	138					0	0	0	0	T	26688852	C	T	26688852	3	4	408	1	0	0	0	0	1	0	0	0	14230	768	27	1	581	1	SEZ6L	22	26688852	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1380180	26688852	24615714	3907	81725											
ASPHD2	57168	broad.mit.edu	37	chr22	26829974	26829974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtaccacaacctgcaGgagtacgccaagcgctactc	12	6	9	14	2	0	0	0	0	0	0	1	1	0	1	3	1	7	5	3	1	6	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:26829974G>T	ENST00000215906.5	+	2	831	c.393G>T	c.(391-393)caG>caT	p.Q131H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	131					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						ACAACCTGCAGGAGTACGCCA	0.642													16	56					2.23348e-06	2.28775e-06	1	0	T	26829974	G	T	26829974	3	4	408	1	0	0	0	0	1	0	0	0	1059	991	35	4	395	4	ASPHD2	22	26829974	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	141122	26829974	24474592	3908	81726											
GAS2L1	10634	broad.mit.edu	37	chr22	29707852	29707852	+	Frame_Shift_Del	DEL	C	C	-																															tgggggctcgggcaggagcaCcccccagactccccgtgccc																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:29707852delC	ENST00000471961.1	+	5	2459	c.1411delC	c.(1411-1413)ccfs	p.P472fs	GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000406549.3_Intron			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	475					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GGCAGGAGCACCCCCCAGACT	0.711													8	24	---	---	---	---					-	29707852	C	-	29707852	7	5	408	1	0	1	0	1	0	0	0	0	6295	507	18	0	1433	0	GAS2L1	22	29707852	Frame_Shift_Del	DEL	C	TCGA-F7-A624-01A-22D-A30E-08	2877878	29707852	21596714	3909	81727											
ASCC2	84164	broad.mit.edu	37	chr22	30198121	30198121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggtctggcagcaggTccttcacttgggagatgaga	10	8	13	10	0	2	2	1	1	1	2	3	4	3	2	2	4	1	2	2	4	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:30198121T>C	ENST00000397771.2	-	15	1607	c.1430A>G	c.(1429-1431)gAc>gGc	p.D477G	ASCC2_ENST00000542393.1_Missense_Mutation_p.D401G|ASCC2_ENST00000307790.3_Missense_Mutation_p.D477G			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	477	CUE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TGGCAGCAGGTCCTTCACTTG	0.597													17	51					0	0	0	0	C	30198121	T	C	30198121	3	2	408	1	0	0	0	0	1	0	0	0	1036	1667	58	5	871	5	ASCC2	22	30198121	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	490269	30198121	21106445	3910	81728											
MTMR3	8897	broad.mit.edu	37	chr22	30408420	30408420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgcttctgaaatcagcGcttctggtagtgcatgctgt	6	15	11	9	1	4	1	1	1	3	0	4	1	4	1	0	1	4	5	0	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:30408420G>A	ENST00000333027.3	+	13	1513	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	MTMR3_ENST00000351488.3_Silent_p.A395A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A395A|MTMR3_ENST00000401950.2_Silent_p.A395A|MTMR3_ENST00000323630.5_Silent_p.A259A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	395	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGAAATCAGCGCTTCTGGTAG	0.493													94	239					0	0	0	0	A	30408420	G	A	30408420	2	1	408	1	0	0	0	0	0	0	0	1	10015	1074	38	1		1	MTMR3	22	30408420	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	210299	30408420	20896146	3911	81729											
SEC14L4	284904	broad.mit.edu	37	chr22	30887920	30887920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagcctcacctgctcgCacaggtagtagctcttgggc	7	9	11	14	1	2	0	1	0	1	0	3	0	2	0	2	2	4	6	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:30887920C>T	ENST00000392772.2	-	10	927	c.650G>A	c.(649-651)tGc>tAc	p.C217Y	SEC14L4_ENST00000540456.1_Missense_Mutation_p.C256Y|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000255858.7_Missense_Mutation_p.C271Y|SEC14L4_ENST00000381982.3_Missense_Mutation_p.C271Y			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	271	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CACCTGCTCGCACAGGTAGTA	0.617													6	28					0	0	0	0	T	30887920	C	T	30887920	3	4	408	1	0	0	0	0	1	0	0	0	14071	710	25	4	426	4	SEC14L4	22	30887920	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	479500	30887920	20416646	3912	81730											
MORC2	22880	broad.mit.edu	37	chr22	31338232	31338232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggttcccgggtccgagcAttccaggtgggcagtgggac	7	7	16	11	2	0	0	0	0	0	0	3	2	3	1	3	5	1	3	3	5	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:31338232A>G	ENST00000215862.4	-	8	1630	c.267T>C	c.(265-267)aaT>aaC	p.N89N	MORC2_ENST00000397641.2_Silent_p.N151N|MORC2_ENST00000469915.1_5'UTR	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	151							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGGTCCGAGCATTCCAGGTGG	0.498													8	213					0	0	0	0	G	31338232	A	G	31338232	2	3	408	1	0	0	0	0	0	0	0	1	9772	214	8	5		5	MORC2	22	31338232	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	450312	31338232	19966334	3913	81731											
INPP5J	27124	broad.mit.edu	37	chr22	31522690	31522690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttcatggatgcgctagggCccttcaacttcgtgctggta	6	13	12	10	2	2	0	2	0	0	0	3	1	2	1	1	3	3	4	1	3	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:31522690C>T	ENST00000331075.5	+	4	1526	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	INPP5J_ENST00000405300.1_Missense_Mutation_p.P126S|INPP5J_ENST00000412277.2_Missense_Mutation_p.P426S|INPP5J_ENST00000404390.3_Missense_Mutation_p.P125S|INPP5J_ENST00000400294.2_Missense_Mutation_p.P126S			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	493	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TGCGCTAGGGCCCTTCAACTT	0.607													57	216					0	0	0	0	T	31522690	C	T	31522690	3	4	408	1	0	0	0	0	1	0	0	0	7812	739	26	4	387	4	INPP5J	22	31522690	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	184458	31522690	19781876	3914	81732											
LIMK2	3985	broad.mit.edu	37	chr22	31673101	31673101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatccgggccatgcagaAgctgagcacaccccagaaga	14	3	11	13	1	0	5	0	1	0	4	1	5	1	5	4	1	3	3	4	1	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:31673101A>G	ENST00000340552.4	+	15	2266	c.2036A>G	c.(2035-2037)aAg>aGg	p.K679R	LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.K622R|LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000331728.4_Intron	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	0						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GCCATGCAGAAGCTGAGCACA	0.597													17	79					0	0	0	0	G	31673101	A	G	31673101	3	3	408	1	0	0	0	0	1	0	0	0	8856	72	3	5	2218	5	LIMK2	22	31673101	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	150411	31673101	19631465	3915	81733											
DEPDC5	9681	broad.mit.edu	37	chr22	32200867	32200867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtgattctcgtctgggcGatgactataatatccctcac	8	12	8	13	3	3	2	1	2	2	0	5	3	4	2	2	1	0	0	2	1	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:32200867G>A	ENST00000400246.1	+	17	1325	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	DEPDC5_ENST00000382105.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000382112.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.D367N|DEPDC5_ENST00000400248.1_Missense_Mutation_p.D395N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D395N			O75140	DEPD5_HUMAN	DEP domain containing 5	395					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCGTCTGGGCGATGACTATAA	0.453													53	180					0	0	0	0	A	32200867	G	A	32200867	3	1	408	1	0	0	0	0	1	0	0	0	4479	1058	37	1	1245	1	DEPDC5	22	32200867	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	527766	32200867	19103699	3916	81734											
RFPL3	10738	broad.mit.edu	37	chr22	32756465	32756465	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagtctgcagagaatcTgttcactgcaaagggaagat	12	9	13	7	0	3	2	1	0	2	2	3	5	3	4	0	2	2	3	0	2	3	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:32756465T>C	ENST00000249007.4	+	2	805	c.600T>C	c.(598-600)tcT>tcC	p.S200S	RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Silent_p.S171S|RFPL3_ENST00000397468.1_Silent_p.S171S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	200	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCAGAGAATCTGTTCACTGCA	0.577													32	131					0	0	0	0	C	32756465	T	C	32756465	2	2	408	1	0	0	0	0	0	0	0	1	13337	1567	55	5		5	RFPL3	22	32756465	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	555598	32756465	18548101	3917	81735											
FBXO7	25793	broad.mit.edu	37	chr22	32894221	32894221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactcacaccattccattcTatcccaaccccttgcaccct	10	10	1	20	0	2	0	1	0	1	0	4	0	4	0	6	0	3	1	6	0	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:32894221T>C	ENST00000266087.7	+	9	1600	c.1273T>C	c.(1273-1275)Tat>Cat	p.Y425H	FBXO7_ENST00000382058.3_Missense_Mutation_p.Y346H|FBXO7_ENST00000397426.1_Missense_Mutation_p.Y311H	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	425					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTCCATTCTATCCCAACCC	0.498													20	203					0	0	0	0	C	32894221	T	C	32894221	3	2	408	1	0	0	0	0	1	0	0	0	5805	1522	53	5	1348	5	FBXO7	22	32894221	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	137756	32894221	18410345	3918	81736											
SYN3	8224	broad.mit.edu	37	chr22	32914204	32914204	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagagcctggtgaccttTgctgctgtggagatccggac	6	9	16	10	2	0	3	0	1	0	2	1	6	1	4	3	4	3	2	3	4	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:32914204T>C	ENST00000358763.2	-	13	1678	c.1436A>G	c.(1435-1437)cAa>cGa	p.Q479R	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.Q479R	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	479	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGTGACCTTTGCTGCTGTGG	0.672													51	141					0	0	0	0	C	32914204	T	C	32914204	3	2	408	1	0	0	0	0	1	0	0	0	15533	1812	63	5	314	5	SYN3	22	32914204	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	19983	32914204	18390362	3919	81737											
CSF2RB	1439	broad.mit.edu	37	chr22	37319379	37319379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgcccagcggctcgTcaacgtgaccctcattcgcc	7	7	10	17	4	2	1	2	1	0	0	4	2	2	2	4	2	3	1	4	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:37319379T>C	ENST00000262825.5	+	3	387	c.170T>C	c.(169-171)gTc>gCc	p.V57A	CSF2RB_ENST00000406230.1_Missense_Mutation_p.V57A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.V57A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	57					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGCGGCTCGTCAACGTGACC	0.642													15	41					0	0	0	0	C	37319379	T	C	37319379	3	2	408	1	0	0	0	0	1	0	0	0	3967	1667	58	5	176	5	CSF2RB	22	37319379	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	4405175	37319379	13985187	3920	81738											
MPST	4357	broad.mit.edu	37	chr22	37420635	37420635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaccacgccgtgtcaCtgcttgatggcggcctccgc	4	8	12	17	5	1	1	1	1	0	0	3	1	2	1	5	3	1	1	5	3	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:37420635C>A	ENST00000397225.2	+	2	1294	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	MPST_ENST00000397129.1_Missense_Mutation_p.L147M|MPST_ENST00000401419.3_Missense_Mutation_p.L127M|MPST_ENST00000404802.3_Missense_Mutation_p.L127M|MPST_ENST00000341116.3_Missense_Mutation_p.L127M|MPST_ENST00000404393.1_Missense_Mutation_p.L127M|MPST_ENST00000429360.2_Missense_Mutation_p.L127M			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	127	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CGCCGTGTCACTGCTTGATGG	0.701													6	20					0.00198382	0.00200201	1	0	A	37420635	C	A	37420635	3	1	408	1	0	0	0	0	1	0	0	0	9814	564	20	4	445	4	MPST	22	37420635	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	101256	37420635	13883931	3921	81739											
SSTR3	6753	broad.mit.edu	37	chr22	37603244	37603244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccggctcgccaggccGccgccggctcgggccactgc	4	4	15	18	6	0	1	0	1	0	0	2	1	0	1	6	4	2	2	6	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:37603244G>A	ENST00000328544.3	-	2	1132	c.599C>T	c.(598-600)gCg>gTg	p.A200V	SSTR3_ENST00000402501.1_Missense_Mutation_p.A200V	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	200					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TCGCCAGGCCGCCGCCGGCTC	0.682													12	37					0	0	0	0	A	37603244	G	A	37603244	3	1	408	1	0	0	0	0	1	0	0	0	15289	1087	38	1	661	1	SSTR3	22	37603244	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	182609	37603244	13701322	3922	81740											
GGA1	26088	broad.mit.edu	37	chr22	38026098	38026098	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatccctgccagcaagcAgcggtctggacgacctagac	11	5	11	14	2	1	2	0	0	1	2	2	4	2	3	3	2	4	2	3	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:38026098A>G	ENST00000406772.1	+	14	1685	c.1033A>G	c.(1033-1035)Agc>Ggc	p.S345G	GGA1_ENST00000337437.4_Missense_Mutation_p.S385G|GGA1_ENST00000343632.4_Missense_Mutation_p.S418G|GGA1_ENST00000325180.8_Missense_Mutation_p.S331G|GGA1_ENST00000381756.5_Missense_Mutation_p.S435G	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	418	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCCAGCAAGCAGCGGTCTGGA	0.682													32	108					0	0	0	0	G	38026098	A	G	38026098	3	3	408	1	0	0	0	0	1	0	0	0	6403	188	7	5	1368	5	GGA1	22	38026098	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	422854	38026098	13278468	3923	81741											
POLR2F	5435	broad.mit.edu	37	chr22	38349816	38349816	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagacaacgaggacaagTgagtgcgggagcggagtggc	11	5	18	7	3	1	2	1	1	0	1	1	6	1	5	0	4	3	0	0	4	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:38349816T>C	ENST00000442738.2	+	1	145		c.e1+2		POLR2F_ENST00000460648.1_Splice_Site|POLR2F_ENST00000407936.1_Splice_Site|POLR2F_ENST00000470701.1_5'UTR|POLR2F_ENST00000606538.1_Splice_Site|POLR2F_ENST00000405557.1_Splice_Site|POLR2F_ENST00000488684.1_Splice_Site|POLR2F_ENST00000484894.1_Intron	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F						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|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CGAGGACAAGTGAGTGCGGGA	0.667													10	29					0	0	0	0	C	38349816	T	C	38349816	5	2	408	1	0	0	0	0	0	0	1	0	12291	1710	59	5	24	5	POLR2F	22	38349816	Splice_Site	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	323718	38349816	12954750	3924	81742											
PLA2G6	8398	broad.mit.edu	37	chr22	38512091	38512091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtttaaacctgagggctGagctggaggcctgaggttaa	10	10	15	6	0	0	3	0	3	0	0	0	4	0	4	2	5	2	4	2	5	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:38512091G>C	ENST00000332509.3	-	13	2053	c.1870C>G	c.(1870-1872)Cag>Gag	p.Q624E	PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q570E|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q570E	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	624					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTGAGGGCTGAGCTGGAGGC	0.592													21	62					0	0	0	0	C	38512091	G	C	38512091	3	2	408	1	0	0	0	0	1	0	0	0	12080	1299	45	2	570	2	PLA2G6	22	38512091	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	162275	38512091	12792475	3925	81743											
GTPBP1	9567	broad.mit.edu	37	chr22	39123307	39123307	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtttgaggccgagattctCgtcctccaccaccccaccac	8	8	8	17	2	1	2	0	1	1	1	4	4	3	2	7	1	0	1	7	1	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39123307C>T	ENST00000216044.5	+	9	1724	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	497					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCGAGATTCTCGTCCTCCACC	0.597													4	115					0	0	0	0	T	39123307	C	T	39123307	2	4	408	1	0	0	0	0	0	0	0	1	6928	871	31	1		1	GTPBP1	22	39123307	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	611216	39123307	12181259	3926	81744											
SUN2	25777	broad.mit.edu	37	chr22	39135892	39135893	+	Frame_Shift_Ins	INS	-	-	C																															tctgaaggagccccacgcggINSccccctccacctcgggcaag																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39135892_39135893insC	ENST00000405510.1	-	14	1770_1771	c.1412_1413insG	c.(1411-1413)gcgfs	p.A471fs	SUN2_ENST00000406622.1_Frame_Shift_Ins_p.A471fs|SUN2_ENST00000405018.1_Frame_Shift_Ins_p.A492fs|SUN2_ENST00000411587.2_Frame_Shift_Ins_p.A460fs|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Frame_Shift_Ins_p.A471fs	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	471	Poly-Gly.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GCCCCACGCGGCCCCCTCCACC	0.619													48	247	---	---	---	---					C	39135893	-	C	39135892	7	5	408	1	0	1	1	0	0	0	0	0	15482	1190	42	0	764	0	SUN2	22	39135892	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	12585	39135892	12168674	3927	81745											
CBX6	23466	broad.mit.edu	37	chr22	39262377	39262377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtgacatctcggggCgccagtccccagcctcgggc	6	5	15	15	3	1	1	0	1	1	0	4	1	2	1	4	4	2	1	4	4	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39262377C>T	ENST00000407418.3	-	5	1199	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	CBX6_ENST00000216083.6_Missense_Mutation_p.R341H			O95503	CBX6_HUMAN	chromobox homolog 6	359					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CATCTCGGGGCGCCAGTCCCC	0.662													16	53					0	0	0	0	T	39262377	C	T	39262377	3	4	408	1	0	0	0	0	1	0	0	0	2747	768	27	1	166	1	CBX6	22	39262377	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	126485	39262377	12042189	3928	81746											
CBX6	23466	broad.mit.edu	37	chr22	39262787	39262787	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcatgtggcggatctgTgtacgcaggacgctctcgct	7	11	12	11	4	3	0	1	0	2	0	4	2	3	2	0	3	2	4	0	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39262787T>C	ENST00000407418.3	-	5	789	c.666A>G	c.(664-666)acA>acG	p.T222T	CBX6_ENST00000216083.6_Silent_p.T204T			O95503	CBX6_HUMAN	chromobox homolog 6	222					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCGGATCTGTGTACGCAGGA	0.701													22	105					0	0	0	0	C	39262787	T	C	39262787	2	2	408	1	0	0	0	0	0	0	0	1	2747	1683	59	5		5	CBX6	22	39262787	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	410	39262787	12041779	3929	81747											
TAB1	10454	broad.mit.edu	37	chr22	39822777	39822777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagtggcccaggccgtcGtggaccgggtgaagcgcatc	7	5	16	13	5	0	1	0	1	0	0	2	2	0	2	3	4	1	2	3	4	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39822777G>A	ENST00000216160.6	+	9	1053	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	TAB1_ENST00000331454.3_Missense_Mutation_p.V331M	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	331	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCAGGCCGTCGTGGACCGGGT	0.627													30	89					0	0	0	0	A	39822777	G	A	39822777	3	1	408	1	0	0	0	0	1	0	0	0	15586	1145	40	1	1025	1	TAB1	22	39822777	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	559990	39822777	11481789	3930	81748											
CACNA1I	8911	broad.mit.edu	37	chr22	40054250	40054250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctggctgcatttgggCtcttcgactacctgcgtaac	7	12	11	11	2	1	1	0	1	1	0	2	2	1	1	1	2	5	5	1	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40054250C>T	ENST00000336649.4	+	14	2104	c.2104C>T	c.(2104-2106)Ctc>Ttc	p.L702F	CACNA1I_ENST00000400164.3_Missense_Mutation_p.L661F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L661F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L696F|CACNA1I_ENST00000402142.3_Missense_Mutation_p.L696F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L661F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	696					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGCATTTGGGCTCTTCGACTA	0.572													32	86					0	0	0	0	T	40054250	C	T	40054250	3	4	408	1	0	0	0	0	1	0	0	0	2571	797	28	4	2128	4	CACNA1I	22	40054250	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	231473	40054250	11250316	3931	81749											
CACNA1I	8911	broad.mit.edu	37	chr22	40080370	40080370	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgccagccgagttctTccaccctgcagtgtctgcca	6	9	9	17	1	2	0	0	0	2	0	3	1	3	0	6	0	4	2	6	0	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40080370T>C	ENST00000336649.4	+	39	5912	c.5912T>C	c.(5911-5913)tTc>tCc	p.F1971S	CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1930S|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1930S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1965S|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F1965S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1930S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1965					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCCGAGTTCTTCCACCCTGCA	0.637													9	31					0	0	0	0	C	40080370	T	C	40080370	3	2	408	1	0	0	0	0	1	0	0	0	2571	1783	62	5	6036	5	CACNA1I	22	40080370	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	26120	40080370	11224196	3932	81750											
TNRC6B	23112	broad.mit.edu	37	chr22	40660731	40660731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgcttcaaattatgcaaAttccacttggggctcgggag	9	12	11	9	1	1	0	1	0	0	0	3	1	2	1	1	3	3	4	1	3	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40660731A>G	ENST00000454349.2	+	5	708	c.497A>G	c.(496-498)aAt>aGt	p.N166S	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.N166S|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	166					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AATTATGCAAATTCCACTTGG	0.488													22	36					0	0	0	0	G	40660731	A	G	40660731	3	3	408	1	0	0	0	0	1	0	0	0	16435	101	4	5	636	5	TNRC6B	22	40660731	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	580361	40660731	10643835	3933	81751											
ADSL	158	broad.mit.edu	37	chr22	40759036	40759036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatactatattgaatacGctgcagaacatttctgaagg	14	11	9	7	1	1	4	0	2	1	2	1	4	1	4	0	1	4	3	0	1	7	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40759036G>A	ENST00000216194.7	+	10	1118	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	ADSL_ENST00000454266.2_Silent_p.T368T|ADSL_ENST00000342312.6_Silent_p.T354T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	354					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TATTGAATACGCTGCAGAACA	0.408													38	132					0	0	0	0	A	40759036	G	A	40759036	2	1	408	1	0	0	0	0	0	0	0	1	346	1074	38	1		1	ADSL	22	40759036	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	98305	40759036	10545530	3934	81752											
SGSM3	27352	broad.mit.edu	37	chr22	40804998	40804998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaatggatgtgaagctccGctcactgatctgcgtggggc	9	9	13	10	2	2	2	1	2	1	0	3	3	3	3	1	3	2	2	1	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40804998G>A	ENST00000248929.9	+	19	2153	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H	SGSM3_ENST00000454798.2_Missense_Mutation_p.R588H	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	655	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GTGAAGCTCCGCTCACTGATC	0.612													4	6					0	0	0	0	A	40804998	G	A	40804998	3	1	408	1	0	0	0	0	1	0	0	0	14311	1087	38	1	2034	1	SGSM3	22	40804998	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	45962	40804998	10499568	3935	81753											
ZC3H7B	23264	broad.mit.edu	37	chr22	41752381	41752382	+	Frame_Shift_Ins	INS	-	-	A																															agacctatgacatgtggctgINSaaaaaacacaacccaggaaa																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:41752381_41752382insA	ENST00000352645.4	+	21	2675_2676	c.2418_2419insA	c.(2416-2421)ctaaaafs	p.LK806fs	ZC3H7B_ENST00000351589.4_Frame_Shift_Ins_p.LK806fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	822					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACATGTGGCTGAAAAAACACAA	0.589													58	231	---	---	---	---					A	41752382	-	A	41752381	7	5	408	1	0	1	1	0	0	0	0	0	17668	1277	45	0	2496	0	ZC3H7B	22	41752381	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	947383	41752381	9552185	3936	81754											
PHF5A	84844	broad.mit.edu	37	chr22	41856422	41856423	+	Frame_Shift_Ins	INS	-	-	T																															cacctcttcttgaagccgtaINSttttttgcgttcatagaaga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:41856422_41856423insT	ENST00000216252.3	-	4	383_384	c.312_313insA	c.(310-315)aaacggfs	p.R105fs		NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	105					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTGAAGCCGTATTTTTTGCGTT	0.485													18	146	---	---	---	---					T	41856423	-	T	41856422	7	5	408	1	0	1	1	0	0	0	0	0	11909	449	16	0	23	0	PHF5A	22	41856422	Frame_Shift_Ins	INS	-	TCGA-F7-A624-01A-22D-A30E-08	104041	41856422	9448144	3937	81755											
XRCC6	2547	broad.mit.edu	37	chr22	42024155	42024155	+	Frame_Shift_Del	DEL	T	T	-																															ttcaggaagagatagtttgaTttttttggttgatgcctcca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:42024155delT	ENST00000359308.4	+	2	771	c.116delT	c.(115-117)atfs	p.I39fs	XRCC6_ENST00000405878.1_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000402580.3_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000428575.2_Intron|XRCC6_ENST00000360079.3_Frame_Shift_Del_p.I39fs			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	39	Ser-rich (potentially targets for phosphorylation).				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GATAGTTTGATTTTTTTGGTT	0.333								Non-homologous end-joining					20	88	---	---	---	---					-	42024155	T	-	42024155	7	5	408	1	0	1	0	1	0	0	0	0	17553	1493	52	0	122	0	XRCC6	22	42024155	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	167733	42024155	9280411	3938	81756											
TTLL1	25809	broad.mit.edu	37	chr22	43460219	43460219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacagcgcagtggacggtaCgtggacaccagaacgtacaa	14	5	12	10	4	0	1	0	0	0	1	0	3	0	3	1	3	5	3	1	3	5	3	rs144960440		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:43460219C>T	ENST00000331018.7	-	6	855	c.615G>A	c.(613-615)acG>acA	p.T205T	TTLL1_ENST00000266254.7_Silent_p.T205T			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	205	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GTGGACGGTACGTGGACACCA	0.458													15	70					0	0	0	0	T	43460219	C	T	43460219	2	4	408	1	0	0	0	0	0	0	0	1	16818	523	19	1		1	TTLL1	22	43460219	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1436064	43460219	7844347	3939	81757											
TTLL1	25809	broad.mit.edu	37	chr22	43465725	43465725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcctgtatcttttgatgTtcttcaccatcaggtccttc	5	18	5	13	0	4	1	2	1	2	0	7	1	6	1	4	1	0	2	4	1	1	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:43465725T>C	ENST00000331018.7	-	4	479	c.239A>G	c.(238-240)aAc>aGc	p.N80S	TTLL1_ENST00000266254.7_Missense_Mutation_p.N80S			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	80	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCTTTTGATGTTCTTCACCAT	0.453													52	170					0	0	0	0	C	43465725	T	C	43465725	3	2	408	1	0	0	0	0	1	0	0	0	16818	1725	60	5	1064	5	TTLL1	22	43465725	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5506	43465725	7838841	3940	81758											
SCUBE1	80274	broad.mit.edu	37	chr22	43687081	43687081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggatgcaggtatgctggTtgtcactaaggaagaagcca	11	9	15	6	0	1	1	1	0	0	1	1	3	1	3	1	5	3	4	1	5	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:43687081T>C	ENST00000360835.3	-	4	581	c.455A>G	c.(454-456)aAc>aGc	p.N152S	SCUBE1_ENST00000290460.7_Missense_Mutation_p.N152S	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	152	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTATGCTGGTTGTCACTAAG	0.582													6	15					0	0	0	0	C	43687081	T	C	43687081	3	2	408	1	0	0	0	0	1	0	0	0	14031	1725	60	5	2587	5	SCUBE1	22	43687081	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	221356	43687081	7617485	3941	81759											
SAMM50	25813	broad.mit.edu	37	chr22	44377283	44377283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacaggttttttcagcgTctttctggggcggaatgttg	6	16	13	6	2	3	1	1	1	2	0	3	2	3	2	0	4	2	2	0	4	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:44377283T>C	ENST00000350028.4	+	11	1106	c.949T>C	c.(949-951)Tct>Cct	p.S317P	SAMM50_ENST00000396202.3_Missense_Mutation_p.S107P	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	317					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTTTTCAGCGTCTTTCTGGGG	0.418													15	71					0	0	0	0	C	44377283	T	C	44377283	3	2	408	1	0	0	0	0	1	0	0	0	13914	1667	58	5	991	5	SAMM50	22	44377283	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	690202	44377283	6927283	3942	81760											
NUP50	10762	broad.mit.edu	37	chr22	45574765	45574765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccaagcagaaggtgaCagtggtgaatgcaaaggtaa	15	5	16	5	0	0	3	0	2	0	1	0	4	0	3	1	4	2	3	1	4	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:45574765C>T	ENST00000347635.3	+	5	1453	c.987C>T	c.(985-987)gaC>gaT	p.D329D	NUP50_ENST00000396096.2_Silent_p.D301D|NUP50_ENST00000407019.2_Silent_p.D301D|NUP50_ENST00000425733.2_Silent_p.D79D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	329	Ser-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGAAGGTGACAGTGGTGAAT	0.443													12	50					0	0	0	0	T	45574765	C	T	45574765	2	4	408	1	0	0	0	0	0	0	0	1	10837	477	17	4		4	NUP50	22	45574765	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1197482	45574765	5729801	3943	81761											
FAM118A	55007	broad.mit.edu	37	chr22	45719118	45719118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcctggttatcgggactgGcgtcagcgcagcagtggccc	5	8	15	13	3	1	0	1	0	0	0	3	1	2	1	2	4	2	4	2	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:45719118G>A	ENST00000216214.3	+	4	944	c.110G>A	c.(109-111)gGc>gAc	p.G37D	FAM118A_ENST00000441876.2_Missense_Mutation_p.G37D|FAM118A_ENST00000405673.1_Missense_Mutation_p.G37D	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	37						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCGGGACTGGCGTCAGCGCA	0.552													32	70					0	0	0	0	A	45719118	G	A	45719118	3	1	408	1	0	0	0	0	1	0	0	0	5452	1203	42	4	116	4	FAM118A	22	45719118	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	144353	45719118	5585448	3944	81762											
SMC1B	27127	broad.mit.edu	37	chr22	45802679	45802679	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgactattatgcctatcttTtccaactctgcaatgtaaac	11	16	4	10	0	2	1	0	1	2	0	3	1	3	1	2	0	4	2	2	0	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:45802679T>C	ENST00000357450.4	-	3	365	c.366A>G	c.(364-366)gaA>gaG	p.E122E	SMC1B_ENST00000404354.3_Silent_p.E122E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	122					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCTATCTTTTCCAACTCTG	0.299													23	69					0	0	0	0	C	45802679	T	C	45802679	2	2	408	1	0	0	0	0	0	0	0	1	14870	1838	64	5		5	SMC1B	22	45802679	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	83561	45802679	5501887	3945	81763											
ATXN10	25814	broad.mit.edu	37	chr22	46239047	46239047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaatctactagagacAcccctaagccagtaagtacc	14	8	6	13	0	1	2	0	1	1	1	2	3	2	2	5	0	3	2	5	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46239047A>G	ENST00000252934.5	+	11	1679	c.1414A>G	c.(1414-1416)Acc>Gcc	p.472_472insA	ATXN10_ENST00000381061.4_Missense_Mutation_p.408_408insA|ATXN10_ENST00000402380.3_Missense_Mutation_p.123_123insA	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	0					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TACTAGAGACACCCCTAAGCC	0.468													9	82					0	0	0	0	G	46239047	A	G	46239047	3	3	408	1	0	0	0	0	1	0	0	0	1214	159	6	5	1456	5	ATXN10	22	46239047	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	436368	46239047	5065519	3946	81764											
TTC38	55020	broad.mit.edu	37	chr22	46685777	46685777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaactgcacctccagcGtccataagaacgtagcccgg	11	7	8	15	3	0	1	0	0	0	1	2	1	2	1	5	1	5	2	5	1	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46685777G>A	ENST00000381031.3	+	13	1373	c.1297G>A	c.(1297-1299)Gtc>Atc	p.V433I	TTC38_ENST00000445282.2_Missense_Mutation_p.V375I	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	433							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CACCTCCAGCGTCCATAAGAA	0.597													29	74					0	0	0	0	A	46685777	G	A	46685777	3	1	408	1	0	0	0	0	1	0	0	0	16802	1145	40	1	1347	1	TTC38	22	46685777	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	446730	46685777	4618789	3947	81765											
GTSE1	51512	broad.mit.edu	37	chr22	46704755	46704755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgctgcaagtcaggcagCgactcagaggaagcccggga	11	5	14	11	2	3	1	3	0	0	1	3	4	3	3	1	3	4	3	1	3	2	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46704755C>T	ENST00000454366.1	+	4	889	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	207					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGTCAGGCAGCGACTCAGAGG	0.632													50	165					0	0	0	0	T	46704755	C	T	46704755	3	4	408	1	0	0	0	0	1	0	0	0	6935	768	27	1	687	1	GTSE1	22	46704755	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	18978	46704755	4599811	3948	81766											
TRMU	55687	broad.mit.edu	37	chr22	46752902	46752902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcctgagtcccttgctctGacagagatggatctgctaga	9	10	12	10	0	2	4	0	2	2	2	3	6	3	5	2	2	2	2	2	2	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46752902G>A	ENST00000290846.4	+	11	1605	c.1265G>A	c.(1264-1266)tGa>tAa	p.*422*	TRMU_ENST00000381019.3_3'UTR	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	0						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCCTTGCTCTGACAGAGATGG	0.627													17	49					0	0	0	0	A	46752902	G	A	46752902	2	1	408	1	0	0	0	0	0	0	0	1	16666	1285	45	2		2	TRMU	22	46752902	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	48147	46752902	4551664	3949	81767											
CELSR1	9620	broad.mit.edu	37	chr22	46787171	46787171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaaatgctttgggacaGccattgtagatcactggggt	9	11	12	9	0	2	1	2	0	0	1	2	2	2	2	2	3	2	2	2	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46787171G>A	ENST00000262738.3	-	16	6161	c.6162C>T	c.(6160-6162)ggC>ggT	p.G2054G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2054					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTTGGGACAGCCATTGTAGA	0.612											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	39					0	0	0	0	A	46787171	G	A	46787171	2	1	408	1	0	0	0	0	0	0	0	1	3250	958	34	4		4	CELSR1	22	46787171	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	34269	46787171	4517395	3950	81768											
CELSR1	9620	broad.mit.edu	37	chr22	46790092	46790092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggatcaaagcctttgcTgacggcacagtggcagggtc	8	8	15	10	2	1	1	1	1	0	0	3	2	1	2	1	4	2	3	1	4	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46790092T>C	ENST00000262738.3	-	14	5910	c.5911A>G	c.(5911-5913)Agc>Ggc	p.S1971G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1971	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCCTTTGCTGACGGCACAG	0.592													23	63					0	0	0	0	C	46790092	T	C	46790092	3	2	408	1	0	0	0	0	1	0	0	0	3250	1580	55	5	3221	5	CELSR1	22	46790092	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2921	46790092	4514474	3951	81769											
CELSR1	9620	broad.mit.edu	37	chr22	46795724	46795724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactccccgtcggtcacccGcaacccggacagcatcacgg	8	4	9	20	5	2	0	2	0	0	0	4	1	3	1	5	3	2	2	5	3	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46795724G>A	ENST00000262738.3	-	10	5301	c.5302C>T	c.(5302-5304)Cgg>Tgg	p.R1768W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1768	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGGTCACCCGCAACCCGGAC	0.587													18	75					0	0	0	0	A	46795724	G	A	46795724	3	1	408	1	0	0	0	0	1	0	0	0	3250	1086	38	1	3846	1	CELSR1	22	46795724	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	5632	46795724	4508842	3952	81770											
CELSR1	9620	broad.mit.edu	37	chr22	46929670	46929670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgaggctgtctgacacgTcggggtcatgggccgggatg	6	9	18	8	3	2	2	1	2	1	0	3	3	2	3	1	5	0	2	1	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46929670T>C	ENST00000262738.3	-	1	3397	c.3398A>G	c.(3397-3399)gAc>gGc	p.D1133G	CELSR1_ENST00000395964.1_Missense_Mutation_p.D1133G|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1133	Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCTGACACGTCGGGGTCATG	0.622													10	168					0	0	0	0	C	46929670	T	C	46929670	3	2	408	1	0	0	0	0	1	0	0	0	3250	1667	58	5	5786	5	CELSR1	22	46929670	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	133946	46929670	4374896	3953	81771											
CELSR1	9620	broad.mit.edu	37	chr22	46931225	46931225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttaggcccagcgctgcCgccccccagaaaggtggagg	8	6	13	14	2	1	1	0	0	1	1	1	2	1	2	5	4	2	1	5	4	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46931225C>T	ENST00000262738.3	-	1	1842	c.1843G>A	c.(1843-1845)Ggc>Agc	p.G615S	CELSR1_ENST00000395964.1_Missense_Mutation_p.G615S	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	615	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCAGCGCTGCCGCCCCCCAGA	0.652													9	57					0	0	0	0	T	46931225	C	T	46931225	3	4	408	1	0	0	0	0	1	0	0	0	3250	652	23	1	7341	1	CELSR1	22	46931225	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1555	46931225	4373341	3954	81772											
ZBED4	9889	broad.mit.edu	37	chr22	50280302	50280302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgtctgccaccctcCacgacccgcggtacgtcttc	4	8	9	20	5	2	0	0	0	2	0	4	1	3	0	6	1	2	1	6	1	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:50280302C>T	ENST00000216268.4	+	2	3469	c.2992C>T	c.(2992-2994)Cac>Tac	p.H998Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	998						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCACCCTCCACGACCCGCG	0.597													6	27					0	0	0	0	T	50280302	C	T	50280302	3	4	408	1	0	0	0	0	1	0	0	0	17615	594	21	4	2994	4	ZBED4	22	50280302	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3349077	50280302	1024264	3955	81773											
MOV10L1	54456	broad.mit.edu	37	chr22	50599150	50599150	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatagatttgaagatgatCgatattttttgggtttcttg	11	18	10	2	1	1	5	0	2	1	3	2	6	1	5	0	1	0	1	0	1	4	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:50599150C>T	ENST00000262794.5	+	25	3441	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.R1120*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.R1100*|MOV10L1_ENST00000395852.1_Nonsense_Mutation_p.R247*|MOV10L1_ENST00000395858.3_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1120					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGAAGATGATCGATATTTTTT	0.393													19	54					0	0	0	0	T	50599150	C	T	50599150	4	4	408	1	0	0	0	0	0	1	0	0	9789	876	31	1	3509	1	MOV10L1	22	50599150	Nonsense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	318848	50599150	705416	3956	81774											
TRABD	80305	broad.mit.edu	37	chr22	50636360	50636360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcgtctcggagcgcgaCgtctacctaacctacatgct	9	9	8	15	5	2	0	0	0	2	0	4	2	2	1	3	1	5	1	3	1	3	3	rs139842330		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:50636360C>T	ENST00000303434.4	+	8	899	c.780C>T	c.(778-780)gaC>gaT	p.D260D	TRABD_ENST00000395827.1_Silent_p.D260D|TRABD_ENST00000395829.1_Silent_p.D260D|TRABD_ENST00000380909.4_Silent_p.D260D	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	260										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CGGAGCGCGACGTCTACCTAA	0.667													38	115					0	0	0	0	T	50636360	C	T	50636360	2	4	408	1	0	0	0	0	0	0	0	1	16530	535	19	1		1	TRABD	22	50636360	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	37210	50636360	668206	3957	81775											
SBF1	6305	broad.mit.edu	37	chr22	50903743	50903743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccgcaggaagaccgcGcgcagctccttgtcctggga	9	5	13	14	4	0	1	0	0	0	1	2	3	2	3	4	2	3	3	4	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:50903743G>A	ENST00000380817.2	-	11	1287	c.1104C>T	c.(1102-1104)cgC>cgT	p.R368R	SBF1_ENST00000348911.6_Silent_p.R369R|SBF1_ENST00000390679.3_Silent_p.R368R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	368	dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGACCGCGCGCAGCTCCT	0.647													5	11					0	0	0	0	A	50903743	G	A	50903743	2	1	408	1	0	0	0	0	0	0	0	1	13944	1074	38	1		1	SBF1	22	50903743	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	267383	50903743	400823	3958	81776											
ARSA	410	broad.mit.edu	37	chr22	51064693	51064693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgcctcgggacatacGcatggtctcaggtctgggac	7	7	14	13	3	2	0	1	0	2	0	4	2	2	2	2	4	2	2	2	4	1	1	rs74315473		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:51064693G>A	ENST00000547307.1	-	5	1267	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ARSA_ENST00000547805.1_Missense_Mutation_p.R288C|ARSA_ENST00000395619.3_Missense_Mutation_p.R290C|ARSA_ENST00000395621.3_Missense_Mutation_p.R290C|ARSA_ENST00000453344.2_Missense_Mutation_p.R204C|ARSA_ENST00000216124.5_Missense_Mutation_p.R290C|ARSA_ENST00000356098.5_Missense_Mutation_p.R290C			P15289	ARSA_HUMAN	arylsulfatase A	288			R -> C (in MLD).|R -> H (in MLD; adult form).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CGGGACATACGCATGGTCTCA	0.637													13	23					0	0	0	0	A	51064693	G	A	51064693	3	1	408	1	0	0	0	0	1	0	0	0	991	1087	38	1	677	1	ARSA	22	51064693	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	160950	51064693	239873	3959	81777											
CRLF2	64109	broad.mit.edu	37	chrX	1327714	1327714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgtagtggaaagtcAggttggtcctggagtatttg	8	14	13	6	0	1	0	1	0	0	0	2	2	2	2	2	4	1	3	2	4	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:1327714A>G	ENST00000381567.3	-	2	166	c.167T>C	c.(166-168)cTg>cCg	p.L56P	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.L56P	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	56						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGGAAAGTCAGGTTGGTCCT	0.507			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								6	139					0	0	0	0	G	1327714	A	G	1327714	3	3	408	1	0	0	0	0	1	0	0	0	3917	188	7	5	626	5	CRLF2	23	1327714	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08		1327714	153942846	3960	81778											
SLC25A6	293	broad.mit.edu	37	chrX	1508487	1508487	+	Frame_Shift_Del	DEL	A	A	-																															agttgagggcttgagtggggAagtagcgaatgacgttggca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:1508487delA	ENST00000381401.5	-	2	959	c.245delT	c.(244-246)tcfs	p.F82fs	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	82					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TTGAGTGGGGAAGTAGCGAAT	0.572													10	364	---	---	---	---					-	1508487	A	-	1508487	7	5	408	1	0	1	0	1	0	0	0	0	14601	246	9	0	663	0	SLC25A6	23	1508487	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	180773	1508487	153762073	3961	81779											
P2RY8	286530	broad.mit.edu	37	chrX	1584920	1584920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatcgtccacttgaggaCgtcgaagcaggtgatgatgc	10	8	14	9	3	0	3	0	3	0	0	3	6	1	4	1	2	3	2	1	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:1584920C>T	ENST00000381297.4	-	2	742	c.532G>A	c.(532-534)Gtc>Atc	p.V178I		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	178						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACTTGAGGACGTCGAAGCAG	0.642			T	CRLF2	"B-ALL, Downs associated ALL"								4	61					0	0	0	0	T	1584920	C	T	1584920	3	4	408	1	0	0	0	0	1	0	0	0	11426	536	19	1	551	1	P2RY8	23	1584920	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	76433	1584920	153685640	3962	81780											
ZBED1	9189	broad.mit.edu	37	chrX	2408097	2408097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggacaggcagttgggggCgcccaggcccaggaagtggg	8	4	19	10	1	0	0	0	0	0	0	0	2	0	2	2	7	0	2	2	7	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:2408097C>T	ENST00000381223.4	-	2	867	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A222T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A222T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	222						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGGGGGCGCCCAGGCCC	0.647													74	203					0	0	0	0	T	2408097	C	T	2408097	3	4	408	1	0	0	0	0	1	0	0	0	17613	768	27	1	1424	1	ZBED1	23	2408097	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	823177	2408097	152862463	3963	81781											
CD99	4267	broad.mit.edu	37	chrX	2644347	2644347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgtgggggctgtcgtggtCgccgtggctggagccatctc	3	11	17	10	3	1	0	0	0	1	0	4	1	1	1	2	5	1	2	2	5	0	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:2644347C>T	ENST00000381192.3	+	8	590	c.408C>T	c.(406-408)gtC>gtT	p.V136V	CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381184.1_Silent_p.V136V|CD99_ENST00000381187.3_Silent_p.V120V	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	136					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CTGTCGTGGTCGCCGTGGCTG	0.562													4	78					0	0	0	0	T	2644347	C	T	2644347	2	4	408	1	0	0	0	0	0	0	0	1	3079	871	31	1		1	CD99	23	2644347	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	236250	2644347	152626213	3964	81782											
PRKX	5613	broad.mit.edu	37	chrX	3592653	3592653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacagcctgatgaggaaCgggtggctgacttccttcag	9	9	12	11	1	2	3	2	3	0	0	3	4	3	4	2	3	2	1	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:3592653C>T	ENST00000262848.5	-	2	675	c.321G>A	c.(319-321)ccG>ccA	p.P107P		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	107	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TGATGAGGAACGGGTGGCTGA	0.562													30	36					0	0	0	0	T	3592653	C	T	3592653	2	4	408	1	0	0	0	0	0	0	0	1	12607	523	19	1		1	PRKX	23	3592653	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	948306	3592653	151677907	3965	81783											
WWC3	55841	broad.mit.edu	37	chrX	10098008	10098008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaggagttggcaagcGgactcggtggatagcggctg	7	8	17	9	3	1	0	1	0	0	0	2	3	1	3	1	6	2	3	1	6	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:10098008G>A	ENST00000380861.4	+	18	2836	c.2445G>A	c.(2443-2445)gcG>gcA	p.A815A	WWC3_ENST00000454666.1_Silent_p.A815A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	815										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTGGCAAGCGGACTCGGTGG	0.547													4	86					0	0	0	0	A	10098008	G	A	10098008	2	1	408	1	0	0	0	0	0	0	0	1	17509	1103	39	1		1	WWC3	23	10098008	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	6505355	10098008	145172552	3966	81784											
ARHGAP6	395	broad.mit.edu	37	chrX	11682447	11682447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccacctcctaggagaagCgaagatgccattggggcctc	10	6	13	12	1	0	2	0	0	0	2	2	5	1	2	5	3	3	0	5	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:11682447C>T	ENST00000337414.4	-	1	1374	c.502G>A	c.(502-504)Gct>Act	p.A168T	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A168T|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A168T	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	168					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTAGGAGAAGCGAAGATGCCA	0.647													17	19					0	0	0	0	T	11682447	C	T	11682447	3	4	408	1	0	0	0	0	1	0	0	0	889	768	27	1	2596	1	ARHGAP6	23	11682447	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1584439	11682447	143588113	3967	81785											
TLR7	51284	broad.mit.edu	37	chrX	12904439	12904439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatgccccatttccttgtgCgccgtgtaaaaataattctc	10	14	6	11	2	1	0	0	0	1	0	3	0	2	0	4	0	2	1	4	0	5	6	rs141848808		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:12904439C>T	ENST00000380659.3	+	3	951	c.812C>T	c.(811-813)gCg>gTg	p.A271V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	271					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTTCCTTGTGCGCCGTGTAAA	0.378													59	61					0	0	0	0	T	12904439	C	T	12904439	3	4	408	1	0	0	0	0	1	0	0	0	16050	768	27	1	818	1	TLR7	23	12904439	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1221992	12904439	142366121	3968	81786											
TLR8	51311	broad.mit.edu	37	chrX	12939677	12939677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacgttctttatcaccAccatggttatgttggctgcc	6	16	7	12	1	4	0	2	0	2	0	4	0	4	0	3	2	1	4	3	2	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:12939677A>G	ENST00000218032.6	+	2	2605	c.2518A>G	c.(2518-2520)Acc>Gcc	p.T840A	TLR8_ENST00000311912.5_Missense_Mutation_p.T858A	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	840					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTTATCACCACCATGGTTAT	0.403													7	107					0	0	0	0	G	12939677	A	G	12939677	3	3	408	1	0	0	0	0	1	0	0	0	16051	159	6	5	2524	5	TLR8	23	12939677	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	35238	12939677	142330883	3969	81787											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-																															gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:13764946delA	ENST00000380567.1	+	9	1154	c.282delA	c.(280-282)gcfs	p.A94fs	OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234	LisH.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299													31	29	---	---	---	---					-	13764946	A	-	13764946	7	5	408	1	0	1	0	1	0	0	0	0	10909	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	825269	13764946	141505614	3970	81788											
NHS	4810	broad.mit.edu	37	chrX	17744917	17744917	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgatttcgccaacacGccttctcgaatggaaaacgc	10	10	7	14	4	2	1	0	1	2	0	4	3	2	2	3	1	2	0	3	1	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:17744917G>A	ENST00000380060.3	+	6	2966	c.2628G>A	c.(2626-2628)acG>acA	p.T876T	NHS_ENST00000398097.3_Silent_p.T720T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	876						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCGCCAACACGCCTTCTCGAA	0.473													39	54					0	0	0	0	A	17744917	G	A	17744917	2	1	408	1	0	0	0	0	0	0	0	1	10481	1074	38	1		1	NHS	23	17744917	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3979971	17744917	137525643	3971	81789											
NHS	4810	broad.mit.edu	37	chrX	17746019	17746019	+	Frame_Shift_Del	DEL	A	A	-																															ttccagaaaacacgccaaccAaaaactgtgcttttcccaca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:17746019delA	ENST00000380060.3	+	6	4068	c.3730delA	c.(3730-3732)aafs	p.K1244fs	NHS_ENST00000398097.3_Frame_Shift_Del_p.K1088fs	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1244						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACGCCAACCAAAAACTGTGC	0.443													46	55	---	---	---	---					-	17746019	A	-	17746019	7	5	408	1	0	1	0	1	0	0	0	0	10481	131	5	0	3857	0	NHS	23	17746019	Frame_Shift_Del	DEL	A	TCGA-F7-A624-01A-22D-A30E-08	1102	17746019	137524541	3972	81790											
RS1	6247	broad.mit.edu	37	chrX	18660262	18660262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgtggaggtgcggtccgaGttgccatagaagacctagag	10	7	15	9	3	0	3	0	0	0	3	1	5	1	4	4	3	2	1	4	3	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:18660262G>A	ENST00000379984.3	-	6	577	c.537C>T	c.(535-537)aaC>aaT	p.N179N	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	179	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGCGGTCCGAGTTGCCATAGA	0.577													7	63					0	0	0	0	A	18660262	G	A	18660262	2	1	408	1	0	0	0	0	0	0	0	1	13778	1020	36	4		4	RS1	23	18660262	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	914243	18660262	136610298	3973	81791											
MAP7D2	256714	broad.mit.edu	37	chrX	20134903	20134903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgagaggtccgcaccGcgcccggttctgcgatcttc	4	9	14	14	5	2	1	0	1	2	1	4	3	3	1	3	3	1	3	3	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:20134903G>A	ENST00000379651.3	-	1	113	c.95C>T	c.(94-96)gCg>gTg	p.A32V	MAP7D2_ENST00000443379.3_Missense_Mutation_p.A32V|MAP7D2_ENST00000379643.5_Missense_Mutation_p.A32V	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	32			A -> P (in a breast cancer sample; somatic mutation).							NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGTCCGCACCGCGCCCGGTTC	0.726													5	8					0	0	0	0	A	20134903	G	A	20134903	3	1	408	1	0	0	0	0	1	0	0	0	9337	1087	38	1	2290	1	MAP7D2	23	20134903	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1474641	20134903	135135657	3974	81792											
EIF1AX	1964	broad.mit.edu	37	chrX	20153883	20153883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaattttcctctgatgtgAcataacctctttacaccatc	10	15	3	13	0	3	2	1	2	2	0	5	2	4	2	3	0	2	0	3	0	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:20153883A>G	ENST00000379607.5	-	3	380	c.177T>C	c.(175-177)tgT>tgC	p.C59C	EIF1AX_ENST00000379593.1_Silent_p.C31C	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	59	S1-like.					cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCTGATGTGACATAACCTCT	0.383													4	87					0	0	0	0	G	20153883	A	G	20153883	2	3	408	1	0	0	0	0	0	0	0	1	5028	273	10	5		5	EIF1AX	23	20153883	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	18980	20153883	135116677	3975	81793											
KLHL34	257240	broad.mit.edu	37	chrX	21674052	21674052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcggccagctgcagcactgCgcaccgcaggccgctccagg	6	4	13	18	4	0	0	0	0	0	0	2	0	1	0	4	3	4	6	4	3	0	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:21674052C>T	ENST00000379499.2	-	1	2396	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	619										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGCAGCACTGCGCACCGCAGG	0.667													20	10					0	0	0	0	T	21674052	C	T	21674052	3	4	408	1	0	0	0	0	1	0	0	0	8439	768	27	1	83	1	KLHL34	23	21674052	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1520169	21674052	133596508	3976	81794											
ZNF645	158506	broad.mit.edu	37	chrX	22291692	22291692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactaccgtctgtgcaacAtatgctacaagagcaacata	14	9	7	11	1	2	1	1	0	1	1	2	1	2	1	1	0	7	3	1	0	7	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:22291692A>G	ENST00000323684.1	+	1	628	c.584A>G	c.(583-585)cAt>cGt	p.H195R		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	195						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCTGTGCAACATATGCTACAA	0.468													6	79					0	0	0	0	G	22291692	A	G	22291692	3	3	408	1	0	0	0	0	1	0	0	0	18156	217	8	5	586	5	ZNF645	23	22291692	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	617640	22291692	132978868	3977	81795											
ACOT9	23597	broad.mit.edu	37	chrX	23723708	23723708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccgattgaaaatgttccGctcctacaggacataaataa	15	10	7	9	2	0	1	0	1	0	0	3	4	3	2	3	1	1	2	3	1	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:23723708G>A	ENST00000379303.5	-	13	1065	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	ACOT9_ENST00000379295.1_Missense_Mutation_p.R244W|ACOT9_ENST00000336430.7_Missense_Mutation_p.R304W	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	304					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAAATGTTCCGCTCCTACAGG	0.408													50	56					0	0	0	0	A	23723708	G	A	23723708	3	1	408	1	0	0	0	0	1	0	0	0	157	1086	38	1	425	1	ACOT9	23	23723708	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1432016	23723708	131546852	3978	81796											
ARX	170302	broad.mit.edu	37	chrX	25033816	25033816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttacttttgcactcgggCctctcggagcagccctcctc	5	12	9	15	2	1	0	0	0	1	0	5	2	2	1	3	2	4	2	3	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:25033816C>T	ENST00000379044.4	-	1	249	c.39G>A	c.(37-39)agG>agA	p.R13R		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	13						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						TGCACTCGGGCCTCTCGGAGC	0.627													3	3					0	0	0	0	T	25033816	C	T	25033816	2	4	408	1	0	0	0	0	0	0	0	1	1008	738	26	4		4	ARX	23	25033816	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1310108	25033816	130236744	3979	81797											
MAGEB6	158809	broad.mit.edu	37	chrX	26212473	26212473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatatgatgtggctgcCgagggtgaagatgaggaaag	14	8	15	4	1	1	4	1	3	0	1	1	6	1	5	1	3	1	1	1	3	5	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:26212473C>T	ENST00000379034.1	+	2	659	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	170										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGTGGCTGCCGAGGGTGAAG	0.517													27	32					0	0	0	0	T	26212473	C	T	26212473	2	4	408	1	0	0	0	0	0	0	0	1	9248	639	23	1		1	MAGEB6	23	26212473	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1178657	26212473	129058087	3980	81798											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29301191	29301191	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccaaagtgctggactcagTttgatgtggtacaaaagttc	11	11	11	8	0	1	1	1	1	0	0	2	2	1	2	1	2	2	4	1	2	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:29301191T>C	ENST00000378993.1	+	3	892	c.219T>C	c.(217-219)agT>agC	p.S73S	IL1RAPL1_ENST00000302196.4_Silent_p.S73S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	73	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGGACTCAGTTTGATGTGGT	0.428													18	35					0	0	0	0	C	29301191	T	C	29301191	2	2	408	1	0	0	0	0	0	0	0	1	7714	1722	60	5		5	IL1RAPL1	23	29301191	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3088718	29301191	125969369	3981	81799											
NR0B1	190	broad.mit.edu	37	chrX	30326381	30326381	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgttcagactccagcatTtggaaagaaagcacttgatg	13	11	10	7	0	1	4	1	2	0	2	2	5	2	5	1	1	2	3	1	1	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:30326381T>C	ENST00000378970.4	-	1	1334	c.1100A>G	c.(1099-1101)aAa>aGa	p.K367R	NR0B1_ENST00000453287.1_Missense_Mutation_p.K367R|NR0B1_ENST00000378963.1_Missense_Mutation_p.K72R	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	367	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	ACTCCAGCATTTGGAAAGAAA	0.607											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	63					0	0	0	0	C	30326381	T	C	30326381	3	2	408	1	0	0	0	0	1	0	0	0	10684	1841	64	5	320	5	NR0B1	23	30326381	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1025190	30326381	124944179	3982	81800											
DMD	1756	broad.mit.edu	37	chrX	32235180	32235180	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaacagatctgtcaaatcgCctgcaggtaaaagcatatgg	14	9	9	9	1	3	1	2	0	1	1	4	1	3	1	1	2	3	3	1	2	5	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:32235180C>T	ENST00000357033.4	-	44	6497	c.6290_splice	c.e44-1	p.G2097_splice	DMD_ENST00000378677.2_Splice_Site_p.G2093_splice	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	2097					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			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)				TGTCAAATCGCCTGCAGGTAA	0.333													9	7					0	0	0	0	T	32235180	C	T	32235180	5	4	408	1	0	0	0	0	0	0	1	0	4617	753	26	4	5058	4	DMD	23	32235180	Splice_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	1908799	32235180	123035380	3983	81801											
FAM47B	170062	broad.mit.edu	37	chrX	34962126	34962126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcggccttttgagagtcGgatgccccatctccgcctgg	4	10	12	15	4	1	1	0	1	1	1	4	3	2	2	6	3	1	0	6	3	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:34962126G>A	ENST00000329357.5	+	1	1214	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	393								p.R393Q(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TTTGAGAGTCGGATGCCCCAT	0.587													19	29					0	0	0	0	A	34962126	G	A	34962126	3	1	408	1	0	0	0	0	1	0	0	0	5617	1116	39	1	1180	1	FAM47B	23	34962126	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2726946	34962126	120308434	3984	81802											
FAM47C	442444	broad.mit.edu	37	chrX	37027420	37027420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctggagcctcccaagTcacgcgtatctcatctccgc	6	10	8	17	3	4	0	2	0	3	0	7	1	5	1	4	1	2	1	4	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:37027420T>C	ENST00000358047.3	+	1	989	c.937T>C	c.(937-939)Tca>Cca	p.S313P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	313										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTCCCAAGTCACGCGTATC	0.602													48	36					0	0	0	0	C	37027420	T	C	37027420	3	2	408	1	0	0	0	0	1	0	0	0	5618	1667	58	5	939	5	FAM47C	23	37027420	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2065294	37027420	118243140	3985	81803											
XK	7504	broad.mit.edu	37	chrX	37587562	37587562	+	Frame_Shift_Del	DEL	T	T	-																															tttcagaggtggctcaggtgTttttgctgggcctgcaggca																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:37587562delT	ENST00000378616.3	+	3	1385	c.1182delT	c.(1180-1182)tgfs	p.C394fs	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	394					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GGCTCAGGTGTTTTTGCTGGG	0.458													24	30	---	---	---	---					-	37587562	T	-	37587562	7	5	408	1	0	1	0	1	0	0	0	0	17527	1731	60	0	1192	0	XK	23	37587562	Frame_Shift_Del	DEL	T	TCGA-F7-A624-01A-22D-A30E-08	560142	37587562	117682998	3986	81804											
RPGR	6103	broad.mit.edu	37	chrX	38129023	38129023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggattttatctctgggagCggctcattgttattcttgac	7	17	10	7	1	3	1	1	1	2	0	4	3	3	3	0	3	1	2	0	3	2	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:38129023C>T	ENST00000339363.3	-	18	3086	c.2919G>A	c.(2917-2919)ccG>ccA	p.P973P	RPGR_ENST00000309513.3_Silent_p.P706P|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Silent_p.P768P|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	973					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.P768P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCTCTGGGAGCGGCTCATTGT	0.358													21	20					0	0	0	0	T	38129023	C	T	38129023	2	4	408	1	0	0	0	0	0	0	0	1	13633	755	27	1		1	RPGR	23	38129023	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	541461	38129023	117141537	3987	81805											
CASK	8573	broad.mit.edu	37	chrX	41390337	41390337	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagttttgtcccatacaTcgcatcctcgtggctgccgt	5	13	8	15	3	0	0	0	0	0	0	5	0	3	0	4	1	2	3	4	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:41390337T>G	ENST00000318588.9	-	25	2473	c.2428A>C	c.(2428-2430)Atg>Ctg	p.M810L	CASK_ENST00000442742.2_Missense_Mutation_p.M787L|CASK_ENST00000361962.4_Missense_Mutation_p.M798L|CASK_ENST00000378166.4_Missense_Mutation_p.M810L|CASK_ENST00000378163.1_Missense_Mutation_p.M815L|CASK_ENST00000421587.2_Missense_Mutation_p.M786L|CASK_ENST00000378158.1_Missense_Mutation_p.M798L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	815	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GTCCCATACATCGCATCCTCG	0.483													11	64					0	0	0	0	G	41390337	T	G	41390337	3	3	408	1	0	0	0	0	1	0	0	0	2690	1435	50	5	349	5	CASK	23	41390337	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3261314	41390337	113880223	3988	81806											
KDM6A	7403	broad.mit.edu	37	chrX	44969463	44969463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagtacaaaatggaggAcctgatgcaagtctatgacc	16	7	10	8	0	1	3	0	2	1	1	1	5	1	5	2	2	3	2	2	2	6	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:44969463A>G	ENST00000377967.4	+	28	4186	c.4145A>G	c.(4144-4146)gAc>gGc	p.D1382G	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Missense_Mutation_p.D1389G|KDM6A_ENST00000536777.1_Missense_Mutation_p.D1337G|KDM6A_ENST00000543216.1_Missense_Mutation_p.D1303G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1382					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAATGGAGGACCTGATGCAA	0.403			"D, N, F, S"		"renal, oesophageal SCC, MM"								36	43					0	0	0	0	G	44969463	A	G	44969463	3	3	408	1	0	0	0	0	1	0	0	0	8189	275	10	5	4255	5	KDM6A	23	44969463	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3579126	44969463	110301097	3989	81807											
CHST7	56548	broad.mit.edu	37	chrX	46434414	46434414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcgctcgaggtgatctgcGaagcctggctgcgcgatctg	5	9	16	11	5	2	1	0	1	2	0	3	4	2	1	1	2	4	2	1	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:46434414G>A	ENST00000276055.3	+	1	1196	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	350					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						GGTGATCTGCGAAGCCTGGCT	0.751													3	7					0	0	0	0	A	46434414	G	A	46434414	3	1	408	1	0	0	0	0	1	0	0	0	3438	1059	37	1	1050	1	CHST7	23	46434414	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	1464951	46434414	108836146	3990	81808											
RBM10	8241	broad.mit.edu	37	chrX	47034443	47034443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccggggcttcgccttcgtCgagtttagtcacttgcagga	6	11	13	11	4	1	0	1	0	0	0	4	2	1	1	2	3	2	3	2	3	1	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:47034443C>T	ENST00000377604.3	+	6	1270	c.528C>T	c.(526-528)gtC>gtT	p.V176V	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Silent_p.V99V|RBM10_ENST00000329236.7_Silent_p.V99V	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	176	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCGCCTTCGTCGAGTTTAGTC	0.552													30	39					0	0	0	0	T	47034443	C	T	47034443	2	4	408	1	0	0	0	0	0	0	0	1	13193	871	31	1		1	RBM10	23	47034443	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	600029	47034443	108236117	3991	81809											
ZNF41	7592	broad.mit.edu	37	chrX	47308126	47308126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtttctgcccggtatgaAttttttgatgtgtaatgagg	8	16	13	4	1	1	3	0	3	1	0	1	3	1	3	1	3	1	3	1	3	3	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:47308126A>G	ENST00000377065.4	-	5	1682	c.1043T>C	c.(1042-1044)aTt>aCt	p.I348T	ZNF41_ENST00000313116.7_Missense_Mutation_p.I348T|ZNF41_ENST00000397050.2_Missense_Mutation_p.I358T	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	390						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CCCGGTATGAATTTTTTGATG	0.383													14	34					0	0	0	0	G	47308126	A	G	47308126	3	3	408	1	0	0	0	0	1	0	0	0	17984	101	4	5	1300	5	ZNF41	23	47308126	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	273683	47308126	107962434	3992	81810											
CLCN5	1184	broad.mit.edu	37	chrX	49840518	49840518	+	Frame_Shift_Del	DEL	G	G	-																															taaaagaaggtatatgcacaGggggattctggtttaaccat																										TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:49840518delG	ENST00000376088.3	+	7	1125	c.484delG	c.(484-486)ggfs	p.G163fs	CLCN5_ENST00000376108.3_Frame_Shift_Del_p.G93fs|CLCN5_ENST00000376091.3_Frame_Shift_Del_p.G163fs|CLCN5_ENST00000307367.2_Frame_Shift_Del_p.G93fs	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	93					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TATATGCACAGGGGGATTCTG	0.458													34	38	---	---	---	---					-	49840518	G	-	49840518	7	5	408	1	0	1	0	1	0	0	0	0	3496	1000	35	0	502	0	CLCN5	23	49840518	Frame_Shift_Del	DEL	G	TCGA-F7-A624-01A-22D-A30E-08	2532392	49840518	105430042	3993	81811											
AKAP4	8852	broad.mit.edu	37	chrX	49957582	49957582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgtttcactgaaagtgcTttggcactttggccacctcc	7	14	9	11	0	1	1	1	1	0	0	2	1	2	1	3	2	1	4	3	2	1	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:49957582T>C	ENST00000376056.2	-	5	1905	c.1755A>G	c.(1753-1755)aaA>aaG	p.K585K	AKAP4_ENST00000376064.3_Silent_p.K585K|AKAP4_ENST00000376058.2_Silent_p.K211K|AKAP4_ENST00000358526.2_Silent_p.K594K|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	594					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTGAAAGTGCTTTGGCACTTT	0.468													36	30					0	0	0	0	C	49957582	T	C	49957582	2	2	408	1	0	0	0	0	0	0	0	1	453	1606	56	5		5	AKAP4	23	49957582	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	117064	49957582	105312978	3994	81812											
DGKK	139189	broad.mit.edu	37	chrX	50122668	50122668	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagttgatacctccagcaTagctggtaatgttgagcact	12	11	10	8	0	0	3	0	2	0	1	1	3	1	3	2	1	4	6	2	1	4	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:50122668T>C	ENST00000376025.2	-	0	2878							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACCTCCAGCATAGCTGGTAAT	0.468													23	35					0	0	0	0	C	50122668	T	C	50122668	1	2	408	0	1	0	0	0	0	0	0	0	4509	1406	49	5		5	DGKK	23	50122668	RNA	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	165086	50122668	105147892	3995	81813											
GPR173	54328	broad.mit.edu	37	chrX	53105860	53105860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctctgtccccaccgtcCgcatcagcttatgtgaagct	6	10	10	15	3	2	1	1	1	1	0	4	1	4	1	4	1	2	4	4	1	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:53105860C>T	ENST00000332582.4	+	2	548	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	19						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CCCCACCGTCCGCATCAGCTT	0.617													14	17					0	0	0	0	T	53105860	C	T	53105860	2	4	408	1	0	0	0	0	0	0	0	1	6720	639	23	1		1	GPR173	23	53105860	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2983192	53105860	102164700	3996	81814											
ALAS2	212	broad.mit.edu	37	chrX	55041391	55041391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcataggagcgcaccAtgtccaccaagtcacgggtg	10	6	12	13	2	1	0	1	0	0	0	2	1	2	1	3	2	3	3	3	2	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:55041391A>G	ENST00000330807.5	-	9	1363	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.M396T|ALAS2_ENST00000335854.4_Missense_Mutation_p.M372T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	409					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGAGCGCACCATGTCCACCAA	0.542													10	14					0	0	0	0	G	55041391	A	G	55041391	3	3	408	1	0	0	0	0	1	0	0	0	485	217	8	5	549	5	ALAS2	23	55041391	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1935531	55041391	100229169	3997	81815											
ZXDA	7789	broad.mit.edu	37	chrX	57935379	57935379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttcagatgttcggccctCgtgaaagatttcccacagcc	8	11	8	14	2	1	3	1	1	0	2	4	3	2	3	4	1	1	1	4	1	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:57935379C>T	ENST00000358697.4	-	1	1688	c.1476G>A	c.(1474-1476)acG>acA	p.T492T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	492	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GTTCGGCCCTCGTGAAAGATT	0.547													3	46					0	0	0	0	T	57935379	C	T	57935379	2	4	408	1	0	0	0	0	0	0	0	1	18341	871	31	1		1	ZXDA	23	57935379	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	2893988	57935379	97335181	3998	81816											
ARHGEF9	23229	broad.mit.edu	37	chrX	62885895	62885895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtctaggatgtcctcGccctgggaaggacatgtgat	7	11	12	11	1	1	1	0	1	1	0	4	4	3	4	3	3	0	0	3	3	2	1	rs141158169		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:62885895G>A	ENST00000253401.6	-	7	1727	c.927C>T	c.(925-927)ggC>ggT	p.G309G	ARHGEF9_ENST00000437457.2_Silent_p.G256G|ARHGEF9_ENST00000374872.1_Silent_p.G288G|ARHGEF9_ENST00000374870.4_Silent_p.G207G|ARHGEF9_ENST00000374878.1_Silent_p.G307G|ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000433323.2_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	309					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGATGTCCTCGCCCTGGGAAG	0.597													22	23					0	0	0	0	A	62885895	G	A	62885895	2	1	408	1	0	0	0	0	0	0	0	1	914	1074	38	1		1	ARHGEF9	23	62885895	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	4950516	62885895	92384665	3999	81817											
MTMR8	55613	broad.mit.edu	37	chrX	63548661	63548661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagaacttactgaatgttgTagggcacagtactaggattg	13	12	11	5	0	0	2	0	1	0	1	0	3	0	3	0	2	3	4	0	2	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:63548661T>C	ENST00000374852.3	-	12	1539	c.1472A>G	c.(1471-1473)tAc>tGc	p.Y491C	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	491	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTGAATGTTGTAGGGCACAGT	0.463													20	21					0	0	0	0	C	63548661	T	C	63548661	3	2	408	1	0	0	0	0	1	0	0	0	10019	1638	57	5	654	5	MTMR8	23	63548661	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	662766	63548661	91721899	4000	81818											
OPHN1	4983	broad.mit.edu	37	chrX	67316710	67316710	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgagaatagaaaatgcatAccttgccaaagtgctcgatt	15	10	9	7	1	0	2	0	1	0	2	1	4	0	2	2	0	4	2	2	0	6	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:67316710A>G	ENST00000355520.5	-	19	2328		c.e19+1		OPHN1_ENST00000540071.1_Splice_Site|OPHN1_ENST00000484842.1_Splice_Site	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAAAATGCATACCTTGCCAAA	0.478													7	77					0	0	0	0	G	67316710	A	G	67316710	5	3	408	1	0	0	0	0	0	0	1	0	10946	405	14	5	744	5	OPHN1	23	67316710	Splice_Site	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	3768049	67316710	87953850	4001	81819											
MED12	9968	broad.mit.edu	37	chrX	70349193	70349193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacagtaggaatccgctcctCctgcgaccgccacctgctgg	7	8	10	16	3	0	0	0	0	0	0	3	2	3	1	6	2	3	3	6	2	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:70349193C>T	ENST00000333646.6	+	26	3804	c.3605C>T	c.(3604-3606)tCc>tTc	p.S1202F	MED12_ENST00000374080.3_Missense_Mutation_p.S1202F|MED12_ENST00000374102.1_Missense_Mutation_p.S1202F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1202					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCCGCTCCTCCTGCGACCGC	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	20					0	0	0	0	T	70349193	C	T	70349193	3	4	408	1	0	0	0	0	1	0	0	0	9497	855	30	2	3707	2	MED12	23	70349193	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3032483	70349193	84921367	4002	81820											
ZMYM3	9203	broad.mit.edu	37	chrX	70464697	70464697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcctcaggccctaccagGccacaatcaaagaggaagtc	14	5	8	14	0	2	1	2	0	0	1	4	2	3	2	4	3	1	0	4	3	4	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:70464697G>A	ENST00000373998.1	-	19	3715	c.3018C>T	c.(3016-3018)ggC>ggT	p.G1006G	ZMYM3_ENST00000373988.1_Silent_p.G1020G|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.G1020G|ZMYM3_ENST00000353904.2_Silent_p.G1018G|ZMYM3_ENST00000314425.5_Silent_p.G1018G	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1018					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCCCTACCAGGCCACAATCAA	0.458													6	3					0	0	0	0	A	70464697	G	A	70464697	2	1	408	1	0	0	0	0	0	0	0	1	17796	1190	42	4		4	ZMYM3	23	70464697	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	115504	70464697	84805863	4003	81821											
MAGEE1	57692	broad.mit.edu	37	chrX	75649387	75649387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggtgagggaccaagcacttCcgtactgccaatccccggtg	8	7	12	14	3	0	1	0	1	0	0	2	2	2	2	5	3	3	2	5	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:75649387C>T	ENST00000361470.2	+	1	1342	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	355	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAGCACTTCCGTACTGCCA	0.692													13	18					0	0	0	0	T	75649387	C	T	75649387	3	4	408	1	0	0	0	0	1	0	0	0	9254	855	30	2	1066	2	MAGEE1	23	75649387	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	5184690	75649387	79621173	4004	81822											
GPR174	84636	broad.mit.edu	37	chrX	78426811	78426811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgaagtatgtcaacatgTatgcaagcatctacttcttg	12	13	7	9	0	3	1	1	1	2	0	3	1	3	1	1	0	4	4	1	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:78426811T>C	ENST00000276077.1	+	1	343	c.307T>C	c.(307-309)Tat>Cat	p.Y103H		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	103						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						TGTCAACATGTATGCAAGCAT	0.443										HNSCC(63;0.18)			32	35					0	0	0	0	C	78426811	T	C	78426811	3	2	408	1	0	0	0	0	1	0	0	0	6721	1638	57	5	309	5	GPR174	23	78426811	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	2777424	78426811	76843749	4005	81823											
TBX22	50945	broad.mit.edu	37	chrX	79286155	79286155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctgcccaatgtcaacctgCctctatgctacaagatttgt	10	12	6	13	0	2	1	1	0	1	1	2	1	2	1	4	0	5	1	4	0	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:79286155C>T	ENST00000442340.1	+	9	1238	c.748C>T	c.(748-750)Cct>Tct	p.P250S	TBX22_ENST00000373296.3_Missense_Mutation_p.P370S|TBX22_ENST00000373291.1_Missense_Mutation_p.P250S|TBX22_ENST00000373294.5_Missense_Mutation_p.P370S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	370					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAACCTGCCTCTATGCTA	0.448													41	64					0	0	0	0	T	79286155	C	T	79286155	3	4	408	1	0	0	0	0	1	0	0	0	15752	739	26	4	1138	4	TBX22	23	79286155	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	859344	79286155	75984405	4006	81824											
PCDH11X	27328	broad.mit.edu	37	chrX	91090570	91090570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtgttccactctggcGcccaggagaaaaactacacc	10	7	11	13	2	1	1	0	0	1	1	2	2	2	1	3	3	2	1	3	3	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:91090570G>A	ENST00000373094.1	+	1	912	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	PCDH11X_ENST00000361724.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A23T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A23T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	23					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACTCTGGCGCCCAGGAGAA	0.473													24	33					0	0	0	0	A	91090570	G	A	91090570	3	1	408	1	0	0	0	0	1	0	0	0	11579	1087	38	1	69	1	PCDH11X	23	91090570	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	11804415	91090570	64179990	4007	81825											
PCDH11X	27328	broad.mit.edu	37	chrX	91133579	91133579	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcggtgaccaatgctacActgattaatgaactggtgcg	11	10	12	8	2	0	3	0	3	0	0	1	4	0	3	1	2	4	1	1	2	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:91133579A>G	ENST00000373094.1	+	2	3185	c.2340A>G	c.(2338-2340)acA>acG	p.T780T	PCDH11X_ENST00000361724.1_Silent_p.T780T|PCDH11X_ENST00000361655.2_Silent_p.T780T|PCDH11X_ENST00000373088.1_Silent_p.T780T|PCDH11X_ENST00000504220.1_Silent_p.T780T|PCDH11X_ENST00000395337.2_Silent_p.T780T|PCDH11X_ENST00000298274.8_Silent_p.T780T|PCDH11X_ENST00000373097.1_Silent_p.T780T|PCDH11X_ENST00000406881.1_Silent_p.T780T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	780	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCAATGCTACACTGATTAATG	0.438													50	48					0	0	0	0	G	91133579	A	G	91133579	2	3	408	1	0	0	0	0	0	0	0	1	11579	146	6	5		5	PCDH11X	23	91133579	Silent	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	43009	91133579	64136981	4008	81826											
NAP1L3	4675	broad.mit.edu	37	chrX	92927642	92927642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatttctttaggaacttccTtttcttcatccttcacctca	8	18	3	12	0	5	0	3	0	2	0	7	2	7	1	3	1	1	0	3	1	3	8			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:92927642T>C	ENST00000373079.3	-	1	925	c.662A>G	c.(661-663)aAg>aGg	p.K221R	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	221	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AGGAACTTCCTTTTCTTCATC	0.398													13	56					0	0	0	0	C	92927642	T	C	92927642	3	2	408	1	0	0	0	0	1	0	0	0	10228	1609	56	5	862	5	NAP1L3	23	92927642	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1794063	92927642	62342918	4009	81827											
DIAPH2	1730	broad.mit.edu	37	chrX	96136711	96136711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctttaaccagcaatcCggtcaggtaagtcgttctta	9	14	9	9	2	3	0	1	0	2	0	5	0	4	0	2	3	2	4	2	3	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:96136711C>T	ENST00000324765.8	+	5	928	c.581C>T	c.(580-582)cCg>cTg	p.P194L	DIAPH2_ENST00000355827.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P194L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P190L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	194	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.P194L(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						ACCAGCAATCCGGTCAGGTAA	0.343													20	24					0	0	0	0	T	96136711	C	T	96136711	3	4	408	1	0	0	0	0	1	0	0	0	4556	652	23	1	599	1	DIAPH2	23	96136711	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	3209069	96136711	59133849	4010	81828											
PCDH19	57526	broad.mit.edu	37	chrX	99662682	99662682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgtgcccctcttcgtagTctaaagcgccagtgacagtg	9	9	10	13	3	2	1	0	1	2	0	3	1	2	1	3	0	2	1	3	0	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:99662682T>C	ENST00000373034.4	-	1	2589	c.914A>G	c.(913-915)gAc>gGc	p.D305G	PCDH19_ENST00000420881.2_Missense_Mutation_p.D305G|PCDH19_ENST00000255531.7_Missense_Mutation_p.D305G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	305	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTCTTCGTAGTCTAAAGCGCC	0.597													33	31					0	0	0	0	C	99662682	T	C	99662682	3	2	408	1	0	0	0	0	1	0	0	0	11585	1667	58	5	2556	5	PCDH19	23	99662682	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	3525971	99662682	55607878	4011	81829											
PCDH19	57526	broad.mit.edu	37	chrX	99662998	99662998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtagtgcgactgcgTctcgcggtccaggctctttt	5	12	13	11	4	2	0	0	0	2	0	4	2	3	0	1	2	3	3	1	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:99662998T>C	ENST00000373034.4	-	1	2273	c.598A>G	c.(598-600)Acg>Gcg	p.T200A	PCDH19_ENST00000420881.2_Missense_Mutation_p.T200A|PCDH19_ENST00000255531.7_Missense_Mutation_p.T200A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	200	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGCGACTGCGTCTCGCGGTCC	0.637													29	34					0	0	0	0	C	99662998	T	C	99662998	3	2	408	1	0	0	0	0	1	0	0	0	11585	1667	58	5	2872	5	PCDH19	23	99662998	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	316	99662998	55607562	4012	81830											
BHLHB9	80823	broad.mit.edu	37	chrX	102005445	102005445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaatcttgttagtggtgtgGccatatttattaacataaag	12	15	8	6	0	1	0	0	0	1	0	1	0	1	0	2	2	1	1	2	2	7	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:102005445G>A	ENST00000372735.1	+	4	2107	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	BHLHB9_ENST00000447531.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A508T			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	508						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAGTGGTGTGGCCATATTTAT	0.378													4	103					0	0	0	0	A	102005445	G	A	102005445	3	1	408	1	0	0	0	0	1	0	0	0	1425	1203	42	4	1524	4	BHLHB9	23	102005445	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2342447	102005445	53265115	4013	81831											
NXF3	56000	broad.mit.edu	37	chrX	102332636	102332636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgggtcccttggtggctgGtatcccgcacaaagagcttg	6	11	13	11	1	1	1	0	0	1	1	3	1	3	1	2	4	1	4	2	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:102332636G>A	ENST00000395065.3	-	18	1591	c.1490C>T	c.(1489-1491)aCc>aTc	p.T497I	NXF3_ENST00000425644.1_Missense_Mutation_p.T169I|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	497						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			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						TTGGTGGCTGGTATCCCGCAC	0.577													54	56					0	0	0	0	A	102332636	G	A	102332636	3	1	408	1	0	0	0	0	1	0	0	0	10856	1261	44	4	113	4	NXF3	23	102332636	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	327191	102332636	52937924	4014	81832											
COL4A6	1288	broad.mit.edu	37	chrX	107449632	107449632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctccaagaatggaggtTgcccttgctcacccaggagg	10	7	11	13	0	1	1	1	0	0	1	2	3	2	3	4	4	3	2	4	4	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:107449632T>C	ENST00000394872.2	-	11	839	c.608A>G	c.(607-609)cAa>cGa	p.Q203R	COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000372216.4_Intron|COL4A6_ENST00000334504.7_Intron			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	206	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GAATGGAGGTTGCCCTTGCTC	0.433									Alport syndrome with Diffuse Leiomyomatosis				14	12					0	0	0	0	C	107449632	T	C	107449632	3	2	408	1	0	0	0	0	1	0	0	0	3725	1827	63	5		5	COL4A6	23	107449632	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	5116996	107449632	47820928	4015	81833											
GUCY2F	2986	broad.mit.edu	37	chrX	108636205	108636205	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgaatcaaatcttccAagttgctagaatattgctcc	11	12	6	12	1	2	1	1	0	1	1	5	2	5	1	3	0	2	4	3	0	6	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:108636205A>G	ENST00000218006.2	-	13	2795	c.2504T>C	c.(2503-2505)tTg>tCg	p.L835S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	835					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAAATCTTCCAAGTTGCTAGA	0.373													25	104					0	0	0	0	G	108636205	A	G	108636205	3	3	408	1	0	0	0	0	1	0	0	0	6948	131	5	5	850	5	GUCY2F	23	108636205	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1186573	108636205	46634355	4016	81834											
PAK3	5063	broad.mit.edu	37	chrX	110385398	110385398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatacgattcatgtggggTttgatgcagtcaccggggaa	10	10	14	7	2	2	1	2	1	0	0	2	3	2	2	1	4	3	3	1	4	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:110385398T>C	ENST00000519681.1	+	6	692	c.250T>C	c.(250-252)Ttt>Ctt	p.F84L	PAK3_ENST00000372007.4_Missense_Mutation_p.F84L|PAK3_ENST00000372010.1_Missense_Mutation_p.F84L|PAK3_ENST00000360648.4_Missense_Mutation_p.F84L|PAK3_ENST00000446737.1_Missense_Mutation_p.F84L|PAK3_ENST00000262836.4_Missense_Mutation_p.F84L|PAK3_ENST00000518291.1_Missense_Mutation_p.F84L|PAK3_ENST00000417227.1_Missense_Mutation_p.F84L|PAK3_ENST00000425146.1_Missense_Mutation_p.F84L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	84	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCATGTGGGGTTTGATGCAGT	0.393										TSP Lung(19;0.15)			6	116					0	0	0	0	C	110385398	T	C	110385398	3	2	408	1	0	0	0	0	1	0	0	0	11473	1725	60	5	256	5	PAK3	23	110385398	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1749193	110385398	44885162	4017	81835											
TRPC5	7224	broad.mit.edu	37	chrX	111155911	111155911	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggatctggtggggccGtgggatagtgacccgttttt	5	11	17	8	3	1	1	0	1	1	0	1	3	1	3	2	5	1	2	2	5	1	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:111155911G>C	ENST00000262839.2	-	3	1426	c.508C>G	c.(508-510)Cgg>Ggg	p.R170G		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	170					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGTGGGGCCGTGGGATAGTG	0.527													3	69					0	0	0	0	C	111155911	G	C	111155911	3	2	408	1	0	0	0	0	1	0	0	0	16677	1144	40	3	2449	3	TRPC5	23	111155911	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	770513	111155911	44114649	4018	81836											
SEPT6	23157	broad.mit.edu	37	chrX	118771104	118771104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagatcctccatgttgAcccgaatcagcatctcccgc	8	8	7	18	3	2	2	1	1	1	1	5	3	4	2	5	0	1	3	5	0	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:118771104A>G	ENST00000394610.1	-	7	1106	c.842T>C	c.(841-843)gTc>gCc	p.V281A	SEPT6_ENST00000394616.4_Missense_Mutation_p.V223A|SEPT6_ENST00000360156.7_Missense_Mutation_p.V281A|SEPT6_ENST00000354228.4_Missense_Mutation_p.V281A|SEPT6_ENST00000354416.3_Missense_Mutation_p.V281A|SEPT6_ENST00000489216.1_Missense_Mutation_p.V281A|SEPT6_ENST00000343984.5_Missense_Mutation_p.V281A|SEPT6_ENST00000394617.2_Missense_Mutation_p.V311A	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	281					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTCCATGTTGACCCGAATCAG	0.547			T	MLL	AML								28	45					0	0	0	0	G	118771104	A	G	118771104	3	3	408	1	0	0	0	0	1	0	0	0	14155	275	10	5	500	5	SEPT6	23	118771104	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	7615193	118771104	36499456	4019	81837											
NDUFA1	4694	broad.mit.edu	37	chrX	119007336	119007336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataggcgcatctctggagttGatcgttactatgtgtcaaag	10	13	11	7	2	2	1	1	1	1	0	4	2	2	2	0	2	1	3	0	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:119007336G>A	ENST00000371437.4	+	2	597	c.172G>A	c.(172-174)Gat>Aat	p.D58N		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	58					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	CTCTGGAGTTGATCGTTACTA	0.453													4	62					0	0	0	0	A	119007336	G	A	119007336	3	1	408	1	0	0	0	0	1	0	0	0	10329	1290	45	2	178	2	NDUFA1	23	119007336	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	236232	119007336	36263224	4020	81838											
GLUD2	2747	broad.mit.edu	37	chrX	120182040	120182040	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagctttggcttctctgAtgacatacaagtgtgcagtg	11	13	10	7	0	1	2	0	2	1	0	2	2	1	2	0	1	3	3	0	1	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:120182040A>T	ENST00000328078.1	+	1	579	c.502A>T	c.(502-504)Atg>Ttg	p.M168L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	168					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGCTTCTCTGATGACATACAA	0.488													41	46					0	0	0	0	T	120182040	A	T	120182040	3	4	408	1	0	0	0	0	1	0	0	0	6528	333	12	5	504	5	GLUD2	23	120182040	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1174704	120182040	35088520	4021	81839											
ACTRT1	139741	broad.mit.edu	37	chrX	127185998	127185998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtagggcctcatacttgTacagggcttcttgccccacg	8	11	10	12	1	2	0	1	0	1	0	2	0	2	0	3	2	3	3	3	2	4	6			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:127185998T>C	ENST00000371124.3	-	1	384	c.188A>G	c.(187-189)tAc>tGc	p.Y63C		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	63						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCATACTTGTACAGGGCTTC	0.493													67	74					0	0	0	0	C	127185998	T	C	127185998	3	2	408	1	0	0	0	0	1	0	0	0	218	1638	57	5	946	5	ACTRT1	23	127185998	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	7003958	127185998	28084562	4022	81840											
SASH3	54440	broad.mit.edu	37	chrX	128927038	128927038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcgagaaacacaccTcaatgagctgaacatcatgg	15	6	10	10	1	2	4	2	2	0	2	2	5	2	4	1	1	5	2	1	1	3	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:128927038T>C	ENST00000356892.3	+	7	989	c.875T>C	c.(874-876)cTc>cCc	p.L292P		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	292	SAM.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GAAACACACCTCAATGAGCTG	0.582													45	30					0	0	0	0	C	128927038	T	C	128927038	3	2	408	1	0	0	0	0	1	0	0	0	13935	1551	54	5	901	5	SASH3	23	128927038	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1741040	128927038	26343522	4023	81841											
UTP14A	10813	broad.mit.edu	37	chrX	129059902	129059902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttcccaggaagatgAagaggagagaaaccataggc	14	8	12	7	0	1	4	0	1	1	3	2	7	2	6	2	3	1	1	2	3	4	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:129059902A>G	ENST00000394422.3	+	13	1785	c.1757A>G	c.(1756-1758)gAa>gGa	p.E586G	UTP14A_ENST00000371051.5_Missense_Mutation_p.E532G|UTP14A_ENST00000425117.2_Missense_Mutation_p.E534G|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.E418G	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	586					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAGGAAGATGAAGAGGAGAGA	0.483											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	6					0	0	0	0	G	129059902	A	G	129059902	3	3	408	1	0	0	0	0	1	0	0	0	17191	246	9	5	1807	5	UTP14A	23	129059902	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	132864	129059902	26210658	4024	81842											
MBNL3	55796	broad.mit.edu	37	chrX	131526279	131526279	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtacaagttctgcaggaacGaggcccatcccaggatgtgg	10	7	14	10	1	1	0	0	0	1	0	2	3	2	2	2	5	3	3	2	5	3	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:131526279G>A	ENST00000538204.1	-	3	341	c.276C>T	c.(274-276)ctC>ctT	p.L92L	MBNL3_ENST00000370844.1_Silent_p.L46L|MBNL3_ENST00000370857.3_Silent_p.L142L|MBNL3_ENST00000394311.2_Silent_p.L46L|MBNL3_ENST00000370839.3_Silent_p.L142L|MBNL3_ENST00000370849.3_Silent_p.L92L|MBNL3_ENST00000473364.1_5'UTR|RP5-842K24.2_ENST00000421483.1_RNA|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370853.3_Silent_p.L142L	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	142					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					CTGCAGGAACGAGGCCCATCC	0.463													28	29					0	0	0	0	A	131526279	G	A	131526279	2	1	408	1	0	0	0	0	0	0	0	1	9424	1045	37	1		1	MBNL3	23	131526279	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	2466377	131526279	23744281	4025	81843											
GPR112	139378	broad.mit.edu	37	chrX	135405143	135405143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagacatagaccttggacttGcaggagaccatcagcagcta	14	7	10	10	0	1	3	1	0	0	3	1	5	1	4	2	2	3	3	2	2	3	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:135405143G>T	ENST00000394143.1	+	5	568	c.277G>T	c.(277-279)Gca>Tca	p.A93S	GPR112_ENST00000287534.4_Missense_Mutation_p.A30S|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A93S|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	93					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTTGGACTTGCAGGAGACCA	0.428													77	72					8.70839e-23	9.20852e-23	1	0	T	135405143	G	T	135405143	3	4	408	1	0	0	0	0	1	0	0	0	6678	1319	46	4	283	4	GPR112	23	135405143	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	3878864	135405143	19865417	4026	81844											
VGLL1	51442	broad.mit.edu	37	chrX	135618205	135618205	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgaagaagactgccaTccggctgcccaaaggcaaac	16	4	10	11	1	0	4	0	1	0	3	1	4	1	4	3	2	3	2	3	2	5	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:135618205T>A	ENST00000370634.3	+	2	196	c.26T>A	c.(25-27)aTc>aAc	p.I9N		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AAGACTGCCATCCGGCTGCCC	0.488													7	63					0	0	0	0	A	135618205	T	A	135618205	3	1	408	1	0	0	0	0	1	0	0	0	17254	1435	50	5	28	5	VGLL1	23	135618205	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	213062	135618205	19652355	4027	81845											
MAGEA8	4107	broad.mit.edu	37	chrX	149013786	149013786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctattggaagctcaggaAgctgctcacccaagagtggg	10	9	13	9	0	3	1	2	0	1	1	3	3	3	3	1	3	3	3	1	3	4	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:149013786A>G	ENST00000535454.1	+	4	1289	c.740A>G	c.(739-741)aAg>aGg	p.K247R	MAGEA8_ENST00000542674.1_Missense_Mutation_p.K247R|MAGEA8_ENST00000286482.1_Missense_Mutation_p.K247R	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	247	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTCAGGAAGCTGCTCACC	0.617													4	128					0	0	0	0	G	149013786	A	G	149013786	3	3	408	1	0	0	0	0	1	0	0	0	9238	72	3	5	742	5	MAGEA8	23	149013786	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	13395581	149013786	6256774	4028	81846											
MTM1	4534	broad.mit.edu	37	chrX	149839965	149839965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcgacgaatacataaagcGgcttgaggaactgcagctcg	13	6	12	10	5	0	1	0	1	0	0	1	4	0	2	0	2	5	3	0	2	5	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:149839965G>A	ENST00000370396.2	+	15	1763	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MTM1_ENST00000413012.2_Missense_Mutation_p.R533Q|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R455Q	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	570					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TACATAAAGCGGCTTGAGGAA	0.512													37	19					0	0	0	0	A	149839965	G	A	149839965	3	1	408	1	0	0	0	0	1	0	0	0	10007	1116	39	1	1763	1	MTM1	23	149839965	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	826179	149839965	5430595	4029	81847											
GABRE	2564	broad.mit.edu	37	chrX	151128335	151128335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggttgtgattatttcagTtttgttgctcactcctgtaa	6	19	10	6	0	2	1	2	1	0	0	3	1	3	1	1	2	1	5	1	2	2	7			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:151128335T>C	ENST00000370325.1	-	6	813	c.760A>G	c.(760-762)Act>Gct	p.T254A	GABRE_ENST00000393914.3_Missense_Mutation_p.T61A|GABRE_ENST00000370328.3_Missense_Mutation_p.T254A			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	254					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ATTATTTCAGTTTTGTTGCTC	0.443													44	44					0	0	0	0	C	151128335	T	C	151128335	3	2	408	1	0	0	0	0	1	0	0	0	6218	1725	60	5	776	5	GABRE	23	151128335	Missense_Mutation	SNP	T	TCGA-F7-A624-01A-22D-A30E-08	1288370	151128335	4142225	4030	81848											
PNMA5	114824	broad.mit.edu	37	chrX	152159713	152159713	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggctctaaaggtggggAtctaacttggggcatgacct	9	9	15	8	1	2	1	0	1	2	0	2	3	2	3	1	7	1	2	1	7	3	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:152159713A>T	ENST00000439251.1	-	2	868	c.430T>A	c.(430-432)Tcc>Acc	p.S144T	PNMA5_ENST00000452693.1_Missense_Mutation_p.S144T|PNMA5_ENST00000535214.1_Missense_Mutation_p.S144T|PNMA5_ENST00000361887.5_Missense_Mutation_p.S144T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	144					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGTGGGGATCTAACTTGG	0.537													25	160					0	0	0	0	T	152159713	A	T	152159713	3	4	408	1	0	0	0	0	1	0	0	0	12228	333	12	5	920	5	PNMA5	23	152159713	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	1031378	152159713	3110847	4031	81849											
PNMA3	29944	broad.mit.edu	37	chrX	152226134	152226134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccttgcagcaggtgttcgGacctgtggagagccataaaa	10	9	13	9	1	0	1	0	0	0	1	1	3	0	2	3	3	4	3	3	3	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:152226134G>A	ENST00000447306.1	+	2	1058	c.722G>A	c.(721-723)gGa>gAa	p.G241E	PNMA3_ENST00000370264.4_Missense_Mutation_p.G241E|PNMA3_ENST00000370265.4_Missense_Mutation_p.G241E	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	241					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					caggtgttcggacctgtggag	0.552													80	87					0	0	0	0	A	152226134	G	A	152226134	3	1	408	1	0	0	0	0	1	0	0	0	12227	1174	41	2	724	2	PNMA3	23	152226134	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	66421	152226134	3044426	4032	81850											
PNCK	139728	broad.mit.edu	37	chrX	152939660	152939660	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaccctgcaaccctgcaCcacagctctgccaccctggg	8	5	9	19	0	1	0	0	0	1	0	1	1	1	1	5	2	5	3	5	2	1	0			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:152939660C>T	ENST00000393831.2	-	0	156				PNCK_ENST00000447676.2_De_novo_Start_InFrame|PNCK_ENST00000370142.1_Intron	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACCCTGCACCACAGCTCTG	0.637													12	17					0	0	0	0	T	152939660	C	T	152939660	1	4	408	1	0	0	0	0	0	0	0	0	12217	522	18	4		4	PNCK	23	152939660	Translation_Start_Site	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	713526	152939660	2330900	4033	81851											
ABCD1	215	broad.mit.edu	37	chrX	153001628	153001628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggtgagcgagcgcAcagaagccttcactattgcc	10	7	13	11	2	1	2	1	1	0	1	1	4	1	3	2	2	5	2	2	2	2	3			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153001628A>G	ENST00000218104.3	+	3	1543	c.1144A>G	c.(1144-1146)Aca>Gca	p.T382A	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	382	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCGAGCGCACAGAAGCCTT	0.627													47	43					0	0	0	0	G	153001628	A	G	153001628	3	3	408	1	0	0	0	0	1	0	0	0	60	159	6	5	1154	5	ABCD1	23	153001628	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	61968	153001628	2268932	4034	81852											
PLXNB3	5365	broad.mit.edu	37	chrX	153039011	153039011	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggggcaccggcctagAcgtggtgcagcggcccctac	6	6	15	14	3	1	1	1	0	0	1	1	1	1	1	4	5	3	2	4	5	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153039011A>T	ENST00000538966.1	+	20	3462	c.3191A>T	c.(3190-3192)gAc>gTc	p.D1064V	PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1041V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D694V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D651V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1041	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCGGCCTAGACGTGGTGCAG	0.687													20	22					0	0	0	0	T	153039011	A	T	153039011	3	4	408	1	0	0	0	0	1	0	0	0	12197	275	10	5	3310	5	PLXNB3	23	153039011	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	37383	153039011	2231549	4035	81853											
RENBP	5973	broad.mit.edu	37	chrX	153205600	153205600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtagaagaggcgcagcagCacagggtccccactgtcact	10	6	13	12	1	1	2	1	0	0	2	2	2	2	2	2	3	2	4	2	3	2	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153205600C>T	ENST00000393700.3	-	9	1112	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	RENBP_ENST00000369997.3_Silent_p.V330V|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	344					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	GGCGCAGCAGCACAGGGTCCC	0.597													29	31					0	0	0	0	T	153205600	C	T	153205600	2	4	408	1	0	0	0	0	0	0	0	1	13307	697	25	4		4	RENBP	23	153205600	Silent	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	166589	153205600	2064960	4036	81854											
FLNA	2316	broad.mit.edu	37	chrX	153587512	153587512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcatgcacagggaccttGaaaggactgcctgagggttg	11	8	13	9	0	1	2	1	2	0	0	1	4	1	4	2	3	2	2	2	3	1	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153587512G>C	ENST00000422373.1	-	26	4562	c.4314C>G	c.(4312-4314)ttC>ttG	p.F1438L	FLNA_ENST00000344736.4_Missense_Mutation_p.F1438L|FLNA_ENST00000360319.4_Missense_Mutation_p.F1438L|FLNA_ENST00000369850.3_Missense_Mutation_p.F1438L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1438					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGGACCTTGAAAGGACTGC	0.632													98	81					0	0	0	0	C	153587512	G	C	153587512	3	2	408	1	0	0	0	0	1	0	0	0	5978	1281	45	2	3721	2	FLNA	23	153587512	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	381912	153587512	1683048	4037	81855											
TAZ	6901	broad.mit.edu	37	chrX	153648397	153648397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcctgattgctgagtgtCatctcaaccccatcatcctg	7	11	9	14	1	3	2	3	2	1	0	5	2	4	2	4	1	2	1	4	1	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153648397C>T	ENST00000299328.5	+	8	899	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369790.4_Missense_Mutation_p.H160Y|TAZ_ENST00000351413.4_Missense_Mutation_p.H190Y|TAZ_ENST00000350743.4_Missense_Mutation_p.H174Y|TAZ_ENST00000369776.4_Missense_Mutation_p.H135Y	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	204					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGAGTGTCATCTCAACCC	0.627													6	146					0	0	0	0	T	153648397	C	T	153648397	3	4	408	1	0	0	0	0	1	0	0	0	15687	826	29	2	640	2	TAZ	23	153648397	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	60885	153648397	1622163	4038	81856											
ATP6AP1	537	broad.mit.edu	37	chrX	153662660	153662660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttacaatgacaccgCtccccggatcctgttctggg	7	11	11	12	2	1	2	0	2	1	0	3	3	3	3	4	2	1	3	4	2	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153662660C>T	ENST00000369762.2	+	7	852	c.791C>T	c.(790-792)gCt>gTt	p.A264V		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	264					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATGACACCGCTCCCCGGATC	0.577													30	113					0	0	0	0	T	153662660	C	T	153662660	3	4	408	1	0	0	0	0	1	0	0	0	1169	797	28	4	817	4	ATP6AP1	23	153662660	Missense_Mutation	SNP	C	TCGA-F7-A624-01A-22D-A30E-08	14263	153662660	1607900	4039	81857											
UBL4A	8266	broad.mit.edu	37	chrX	153713958	153713958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgttcgatgtcgtccaGcgtcaggcgactcagggacc	8	7	12	14	5	2	0	2	0	0	0	5	3	3	1	3	2	2	1	3	2	1	1			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153713958G>A	ENST00000369660.4	-	4	479	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Silent_p.L132L	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	132					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGTCGTCCAGCGTCAGGCGA	0.587													61	43					0	0	0	0	A	153713958	G	A	153713958	2	1	408	1	0	0	0	0	0	0	0	1	16983	962	34	4		4	UBL4A	23	153713958	Silent	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	51298	153713958	1556602	4040	81858											
MPP1	4354	broad.mit.edu	37	chrX	154014572	154014572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgctgtcatccttgttgAtaatctggataatgtcccca	10	15	7	9	0	2	1	1	1	1	0	4	2	4	2	3	1	1	2	3	1	3	5			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:154014572A>T	ENST00000413259.3	-	7	886	c.494T>A	c.(493-495)aTc>aAc	p.I165N	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000369534.3_Missense_Mutation_p.I195N|MPP1_ENST00000393531.1_Missense_Mutation_p.I175N	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	195	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCTTGTTGATAATCTGGAT	0.517													9	371					0	0	0	0	T	154014572	A	T	154014572	3	4	408	1	0	0	0	0	1	0	0	0	9803	333	12	5	844	5	MPP1	23	154014572	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	300614	154014572	1255988	4041	81859											
BRCC3	79184	broad.mit.edu	37	chrX	154305515	154305515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgataagaggaaggaccGagtagaaatttctccagagc	14	9	11	7	1	2	4	0	1	2	3	3	7	2	6	2	2	1	1	2	2	4	4			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:154305515G>A	ENST00000369462.1	+	4	291	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	BRCC3_ENST00000340647.4_Missense_Mutation_p.R90Q|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Missense_Mutation_p.R89Q|BRCC3_ENST00000330045.7_Missense_Mutation_p.R89Q|BRCC3_ENST00000399042.1_Missense_Mutation_p.R89Q	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	89					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGAAGGACCGAGTAGAAATT	0.443													23	31					0	0	0	0	A	154305515	G	A	154305515	3	1	408	1	0	0	0	0	1	0	0	0	1508	1058	37	1	280	1	BRCC3	23	154305515	Missense_Mutation	SNP	G	TCGA-F7-A624-01A-22D-A30E-08	290943	154305515	965045	4042	81860											
IL9R	3581	broad.mit.edu	37	chrX	155233458	155233458	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccatcactttccaccActgcatgtctgggagggagc	8	11	9	13	0	3	0	2	0	1	0	4	2	4	2	3	2	2	1	3	2	0	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:155233458A>G	ENST00000424344.3	+	5	675	c.308A>G	c.(307-309)cAc>cGc	p.H103R	IL9R_ENST00000369423.2_Missense_Mutation_p.T169A|IL9R_ENST00000540897.1_Missense_Mutation_p.T159A|IL9R_ENST00000244174.5_Missense_Mutation_p.H124R			Q01113	IL9R_HUMAN	interleukin 9 receptor	124					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTTCCACCACTGCATGTCT	0.622													15	56					0	0	0	0	G	155233458	A	G	155233458	3	3	408	1	0	0	0	0	1	0	0	0	7761	159	6	5	385	5	IL9R	23	155233458	Missense_Mutation	SNP	A	TCGA-F7-A624-01A-22D-A30E-08	927943	155233458	37102	4043	81861											
DDX3Y	8653	broad.mit.edu	37	chrY	15016853	15016853	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctcttcagggatgagTcatgtggtggtgaaaaatga	10	12	13	6	1	3	3	2	3	1	0	4	4	3	4	0	3	0	1	0	3	2	2			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrY:15016853T>C	ENST00000336079.3	+	1	112	c.6T>C	c.(4-6)agT>agC	p.S2S	DDX3Y_ENST00000360160.4_Silent_p.S2S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	2						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CAGGGATGAGTCATGTGGTGG	0.507													31	26					0	0	0	0	C	15016853	T	C	15016853	2	2	408	1	0	0	0	0	0	0	0	1	4391	1664	58	5		5	DDX3Y	24	15016853	Silent	SNP	T	TCGA-F7-A624-01A-22D-A30E-08		15016853	44356713	4044	81862											
KIF17	57576	broad.mit.edu	37	chr1	21031194	21031194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcagccgcgtcagcttcGagtcacggtaggggacgtgc	7	6	16	12	5	2	0	2	0	0	0	3	2	2	1	1	3	4	4	1	3	1	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:21031194G>A	ENST00000247986.2	-	5	1179	c.869C>T	c.(868-870)tCg>tTg	p.S290L	KIF17_ENST00000375044.1_Missense_Mutation_p.S190L|KIF17_ENST00000400463.3_Missense_Mutation_p.S290L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	290					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTCAGCTTCGAGTCACGGTA	0.622													16	44					0	0	0	0	A	21031194	G	A	21031194	3	1	409	1	0	0	0	0	1	0	0	0	8330	1059	37	1	2264	1	KIF17	1	21031194	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08		21031194	228219427	1	81863											
COL16A1	1307	broad.mit.edu	37	chr1	32148956	32148956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaatgccaggcaaacccggGgctccaggctccccctgcaa	9	5	11	16	1	0	1	0	1	0	0	2	1	2	1	5	4	3	4	5	4	3	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:32148956G>A	ENST00000373672.3	-	35	2910	c.2394C>T	c.(2392-2394)gcC>gcT	p.A798A	COL16A1_ENST00000373668.3_Silent_p.A798A|COL16A1_ENST00000271069.6_Silent_p.A797A	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	798	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAAACCCGGGGCTCCAGGCT	0.617													45	141					0	0	0	0	A	32148956	G	A	32148956	2	1	409	1	0	0	0	0	0	0	0	1	3703	1219	43	4		4	COL16A1	1	32148956	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	11117762	32148956	217101665	2	81864											
CELSR2	1952	broad.mit.edu	37	chr1	109795883	109795883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatctcagatagtctgaCttacagctttgagcggggaa	11	12	11	7	1	2	4	1	3	2	1	3	5	2	5	0	2	3	1	0	2	4	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:109795883C>T	ENST00000271332.3	+	1	3243	c.3182C>T	c.(3181-3183)aCt>aTt	p.T1061I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1061	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GATAGTCTGACTTACAGCTTT	0.547													16	43					0	0	0	0	T	109795883	C	T	109795883	3	4	409	1	0	0	0	0	1	0	0	0	3251	565	20	4	3184	4	CELSR2	1	109795883	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	77646927	109795883	139454738	3	81865											
WDR77	79084	broad.mit.edu	37	chr1	111985333	111985333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacagctgagctcaggaCacagcttgtactcttggtgt	8	12	12	9	0	2	1	1	1	1	0	2	2	2	2	0	2	5	5	0	2	2	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:111985333C>T	ENST00000235090.5	-	8	948	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.V184I	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	248					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGCTCAGGACACAGCTTGTA	0.493													5	19					0	0	0	0	T	111985333	C	T	111985333	3	4	409	1	0	0	0	0	1	0	0	0	17423	478	17	4	298	4	WDR77	1	111985333	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	2189450	111985333	137265288	4	81866											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075708	145075708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctggctccgggcgcCgtctttcccggctcggggtc	0	9	15	17	6	1	0	0	0	1	0	6	0	4	0	4	6	0	3	4	6	0	1	rs148346797	byFrequency	TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:145075708C>T	ENST00000369359.4	-	1	193	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R52Q|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R52Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R52Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCGGGCGCCGTCTTTCCCG	0.721			T	PDGFRB	MPD								13	82					0	0	0	0	T	145075708	C	T	145075708	3	4	409	1	0	0	0	0	1	0	0	0	11714	652	23	1	8657	1	PDE4DIP	1	145075708	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	33090375	145075708	104174913	5	81867											
VHLL	391104	broad.mit.edu	37	chr1	156268971	156268971	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccccgttccccgctcTccagggcattacctccgaag	7	7	7	20	3	1	0	0	0	1	0	4	1	3	0	8	1	1	3	8	1	2	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:156268971T>G	ENST00000339922.3	-	1	457	c.10A>C	c.(10-12)Aga>Cga	p.R4R		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	4					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					TTCCCCGCTCTCCAGGGCATT	0.592													22	79					0	0	0	0	G	156268971	T	G	156268971	2	3	409	1	0	0	0	0	0	0	0	1	17259	1559	54	5		5	VHLL	1	156268971	Silent	SNP	T	TCGA-H7-7774-01A-21D-2078-08	11193263	156268971	92981650	6	81868											
KIRREL	55243	broad.mit.edu	37	chr1	158047906	158047906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaggccgccctgcgctctCggcgggccaaactcaccgtg	5	5	14	17	6	2	0	1	0	1	0	3	1	2	1	4	4	2	1	4	4	1	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:158047906C>T	ENST00000368173.3	+	3	732	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	KIRREL_ENST00000360089.4_Missense_Mutation_p.R49W|KIRREL_ENST00000359209.6_Missense_Mutation_p.R110W|KIRREL_ENST00000392272.2_Missense_Mutation_p.R110W|KIRREL_ENST00000416935.2_Intron	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	110	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTGCGCTCTCGGCGGGCCAA	0.607													9	117					0	0	0	0	T	158047906	C	T	158047906	3	4	409	1	0	0	0	0	1	0	0	0	8376	875	31	1	338	1	KIRREL	1	158047906	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	1778935	158047906	91202715	7	81869											
OR10X1	128367	broad.mit.edu	37	chr1	158549570	158549570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaccacaaaaagaaatgtCtgtacatgtgggtacacaga	18	7	9	7	0	1	3	0	0	1	3	1	3	1	3	1	1	2	2	1	1	6	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:158549570C>T	ENST00000368150.1	-	1	119	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGAAATGTCTGTACATGTG	0.423													6	78					0	0	0	0	T	158549570	C	T	158549570	2	4	409	1	0	0	0	0	0	0	0	1	10993	912	32	2		2	OR10X1	1	158549570	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	501664	158549570	90701051	8	81870											
FMO1	2326	broad.mit.edu	37	chr1	171250015	171250015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgttcatgacacgctttCagaacatgttgagaaattcc	11	13	9	8	1	2	3	2	2	0	2	3	4	3	3	1	1	1	3	1	1	2	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:171250015C>G	ENST00000354841.4	+	5	849	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	FMO1_ENST00000367750.3_Missense_Mutation_p.Q240E|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.Q177E			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	240					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACACGCTTTCAGAACATGTT	0.493													7	68					0	0	0	0	G	171250015	C	G	171250015	3	3	409	1	0	0	0	0	1	0	0	0	5999	827	29	2	736	2	FMO1	1	171250015	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	12700445	171250015	78000606	9	81871											
CEP350	9857	broad.mit.edu	37	chr1	180080243	180080243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaccctgatcaaagatactAttgatgttctgaatcagatc	14	12	7	8	0	3	6	2	3	1	3	4	6	3	6	1	0	1	1	1	0	4	4	rs150197968		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:180080243A>G	ENST00000367607.3	+	38	9719	c.9301A>G	c.(9301-9303)Att>Gtt	p.I3101V	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3101						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAAAGATACTATTGATGTTCT	0.463													15	29					0	0	0	0	G	180080243	A	G	180080243	3	3	409	1	0	0	0	0	1	0	0	0	3283	449	16	5	9447	5	CEP350	1	180080243	Missense_Mutation	SNP	A	TCGA-H7-7774-01A-21D-2078-08	8830228	180080243	69170378	10	81872											
PPFIA4	8497	broad.mit.edu	37	chr1	203013095	203013095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgcctggtgtcccgcCatgaacggtcactgcggatg	6	9	15	11	3	1	1	1	1	0	0	2	3	2	3	3	4	3	0	3	4	1	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:203013095C>T	ENST00000367240.2	+	4	900	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Missense_Mutation_p.H125Y			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	128					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGTGTCCCGCCATGAACGGTC	0.622													8	31					0	0	0	0	T	203013095	C	T	203013095	3	4	409	1	0	0	0	0	1	0	0	0	12383	609	21	4		4	PPFIA4	1	203013095	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	22932852	203013095	46237526	11	81873											
FCAMR	83953	broad.mit.edu	37	chr1	207135705	207135705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtctgtgagggccacacGgtcacgatagcgatggtgag	11	7	15	8	3	2	2	1	2	1	0	2	4	2	2	1	3	1	0	1	3	2	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:207135705G>A	ENST00000324852.4	-	5	979	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	FCAMR_ENST00000450945.2_Missense_Mutation_p.R169C|FCAMR_ENST00000400962.3_Missense_Mutation_p.R169C	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	124	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGGGCCACACGGTCACGATAG	0.572													28	41					0	0	0	0	A	207135705	G	A	207135705	3	1	409	1	0	0	0	0	1	0	0	0	5817	1116	39	1	1244	1	FCAMR	1	207135705	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	4122610	207135705	42114916	12	81874											
GPR137B	7107	broad.mit.edu	37	chr1	236341831	236341831	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttatcgtctctgtgcgAgtggccattaatgacacgct	9	12	11	9	3	1	1	0	1	1	0	3	2	1	1	1	2	1	2	1	2	3	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:236341831A>T	ENST00000366592.3	+	3	673	c.582A>T	c.(580-582)cgA>cgT	p.R194R	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	194						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTCTGTGCGAGTGGCCATTA	0.473													27	54					0	0	0	0	T	236341831	A	T	236341831	2	4	409	1	0	0	0	0	0	0	0	1	6695	291	11	5		5	GPR137B	1	236341831	Silent	SNP	A	TCGA-H7-7774-01A-21D-2078-08	29206126	236341831	12908790	13	81875											
RYR2	6262	broad.mit.edu	37	chr1	237969504	237969504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctataacaactttttttttgCcgctcaccttctcgacattg	8	17	4	12	2	2	0	1	0	1	0	3	1	2	0	2	0	3	1	2	0	3	8			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:237969504C>T	ENST00000366574.2	+	99	14536	c.14219C>T	c.(14218-14220)gCc>gTc	p.A4740V	RYR2_ENST00000360064.6_Missense_Mutation_p.A4746V|RYR2_ENST00000542537.1_Missense_Mutation_p.A4724V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4740					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTTTTTTGCCGCTCACCTT	0.403													3	29					0	0	0	0	T	237969504	C	T	237969504	3	4	409	1	0	0	0	0	1	0	0	0	13854	739	26	4	14613	4	RYR2	1	237969504	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	1627673	237969504	11281117	14	81876											
LTBP1	4052	broad.mit.edu	37	chr2	33413884	33413884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggctgctaagacacagcTtggccggtgcttccaggaaa	9	8	13	11	2	0	1	0	0	0	1	1	2	1	2	2	4	3	4	2	4	2	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:33413884T>C	ENST00000404816.2	+	7	2020	c.1667T>C	c.(1666-1668)cTt>cCt	p.L556P	LTBP1_ENST00000354476.3_Missense_Mutation_p.L556P|LTBP1_ENST00000404525.1_Missense_Mutation_p.L230P|LTBP1_ENST00000418533.2_Missense_Mutation_p.L230P|LTBP1_ENST00000390003.4_Missense_Mutation_p.L230P|LTBP1_ENST00000407925.1_Missense_Mutation_p.L230P|LTBP1_ENST00000402934.1_Missense_Mutation_p.L230P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	556					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGACACAGCTTGGCCGGTGC	0.498													36	80					0	0	0	0	C	33413884	T	C	33413884	3	2	409	1	0	0	0	0	1	0	0	0	9137	1609	56	5	1748	5	LTBP1	2	33413884	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08		33413884	209785489	15	81877											
GPR75	10936	broad.mit.edu	37	chr2	54080512	54080512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtgttgatgtccagcaGagatcttgggactcaccata	11	10	10	10	0	2	2	1	1	1	1	3	4	3	3	2	1	1	2	2	1	1	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:54080512G>A	ENST00000394705.2	-	2	1652	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	461						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGTCCAGCAGAGATCTTGGG	0.488													16	134					0	0	0	0	A	54080512	G	A	54080512	3	1	409	1	0	0	0	0	1	0	0	0	6757	942	33	2	244	2	GPR75	2	54080512	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	20666628	54080512	189118861	16	81878											
COX5B	1329	broad.mit.edu	37	chr2	98264531	98264531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagcgatgcccccgctgtgGagcccattacaagctggtgc	7	7	12	15	2	0	0	0	0	0	0	0	2	0	1	4	2	6	2	4	2	2	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:98264531G>A	ENST00000258424.2	+	4	397	c.350G>A	c.(349-351)gGa>gAa	p.G117E	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	117					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3						CCCCGCTGTGGAGCCCATTAC	0.502													3	30					0	0	0	0	A	98264531	G	A	98264531	3	1	409	1	0	0	0	0	1	0	0	0	3803	1174	41	2	364	2	COX5B	2	98264531	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	44184019	98264531	144934842	17	81879											
GRB14	2888	broad.mit.edu	37	chr2	165365311	165365311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgcctgccagtgacaCataaatatcactattgccaa	12	14	5	10	0	1	1	1	1	0	0	1	1	1	1	3	0	3	0	3	0	5	7			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:165365311C>T	ENST00000263915.3	-	7	1406	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	GRB14_ENST00000543549.1_Missense_Mutation_p.V203M	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	290	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GCCAGTGACACATAAATATCA	0.348													16	63					0	0	0	0	T	165365311	C	T	165365311	3	4	409	1	0	0	0	0	1	0	0	0	6807	478	17	4	786	4	GRB14	2	165365311	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	67100780	165365311	77834062	18	81880											
CIR1	9541	broad.mit.edu	37	chr2	175252492	175252492	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttatcatatgatattttctGttctgccatccatacctaga	10	17	4	10	0	3	2	1	1	2	1	4	2	4	2	3	0	2	1	3	0	5	8			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:175252492G>A	ENST00000342016.3	-	2	180	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CIR1_ENST00000362053.5_Nonsense_Mutation_p.Q30*	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	30	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GATATTTTCTGTTCTGCCATC	0.254													11	42					0	0	0	0	A	175252492	G	A	175252492	4	1	409	1	0	0	0	0	0	1	0	0	3461	1386	48	4	1300	4	CIR1	2	175252492	Nonsense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	9887181	175252492	67946881	19	81881											
NFE2L2	4780	broad.mit.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			3	46					0	0	0	0	G	178098810	C	G	178098810	3	3	409	1	0	0	0	0	1	0	0	0	10438	922	32	2	1598	2	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	2846318	178098810	65100563	20	81882											
NFE2L2	4780	broad.mit.edu	37	chr2	178098957	178098957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttctcgacttactccaaGatctatatcttgcctccaaa	11	14	3	13	1	3	1	0	0	3	1	6	2	5	1	3	0	3	0	3	0	6	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:178098957G>A	ENST00000397062.3	-	2	642	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14F|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L30F(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTACTCCAAGATCTATATCT	0.368			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			7	25					0	0	0	0	A	178098957	G	A	178098957	3	1	409	1	0	0	0	0	1	0	0	0	10438	942	33	2	1745	2	NFE2L2	2	178098957	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	147	178098957	65100416	21	81883											
TTN	7273	broad.mit.edu	37	chr2	179584490	179584490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgttccagtcactacaCactctaatgcaaaaggattt	12	12	7	10	0	2	0	1	0	1	0	3	1	3	1	1	2	2	2	1	2	4	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:179584490C>A	ENST00000589042.1	-	82	23953	c.23729G>T	c.(23728-23730)tGt>tTt	p.C7910F	TTN_ENST00000591111.1_Missense_Mutation_p.C7593F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C6666F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7593	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCACTACACACTCTAATGC	0.398													4	54					0.00024832	0.000254995	1	0	A	179584490	C	A	179584490	3	1	409	1	0	0	0	0	1	0	0	0	16831	478	17	4	80924	4	TTN	2	179584490	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	1485533	179584490	63614883	22	81884											
CASP8	841	broad.mit.edu	37	chr2	202141587	202141587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgaaaagcaaacctcGgggatactgtctgatcatca	15	8	8	10	1	3	2	2	2	1	0	4	3	3	3	2	2	3	1	2	2	5	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:202141587G>A	ENST00000358485.4	+	7	1071	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	CASP8_ENST00000392266.3_Silent_p.S196S|CASP8_ENST00000323492.7_Missense_Mutation_p.R218Q|CASP8_ENST00000432109.2_Missense_Mutation_p.R233Q|CASP8_ENST00000392258.3_Silent_p.S211S|CASP8_ENST00000392259.2_Silent_p.S211S|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.R250Q	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R250Q(2)|p.R292Q(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGCAAACCTCGGGGATACTGT	0.428										HNSCC(4;0.00038)			3	37					0	0	0	0	A	202141587	G	A	202141587	3	1	409	1	0	0	0	0	1	0	0	0	2702	1116	39	1	1001	1	CASP8	2	202141587	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	22557097	202141587	41057786	23	81885											
MPP4	58538	broad.mit.edu	37	chr2	202523236	202523236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgtagccaacaaactcctCcttgtctgaaacacaaagaa	16	7	5	13	1	1	2	0	1	1	1	3	2	3	2	4	0	4	1	4	0	6	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:202523236C>T	ENST00000409474.3	-	16	1300	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	MPP4_ENST00000447335.2_Missense_Mutation_p.E358K|MPP4_ENST00000428900.2_Missense_Mutation_p.E341K|MPP4_ENST00000409143.1_Missense_Mutation_p.E307K|MPP4_ENST00000396886.3_Missense_Mutation_p.E290K|MPP4_ENST00000359962.5_Missense_Mutation_p.E365K|MPP4_ENST00000315506.7_Missense_Mutation_p.E321K	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	365						cytoplasm	protein binding			kidney(1)|lung(11)	12						ACAAACTCCTCCTTGTCTGAA	0.368													8	15					0	0	0	0	T	202523236	C	T	202523236	3	4	409	1	0	0	0	0	1	0	0	0	9806	864	30	2	848	2	MPP4	2	202523236	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	381649	202523236	40676137	24	81886											
RBM44	375316	broad.mit.edu	37	chr2	238726938	238726938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcattgacagatgcagcaaGttgtacagtcacaattaatc	15	11	7	8	0	2	2	2	1	0	1	3	2	2	2	0	0	3	4	0	0	4	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:238726938G>A	ENST00000316997.4	+	3	1511	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S460N	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	459							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GATGCAGCAAGTTGTACAGTC	0.398													15	28					0	0	0	0	A	238726938	G	A	238726938	3	1	409	1	0	0	0	0	1	0	0	0	13220	1029	36	4	1385	4	RBM44	2	238726938	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	36203702	238726938	4472435	25	81887											
OXTR	5021	broad.mit.edu	37	chr3	8809643	8809645	+	In_Frame_Del	DEL	GAA	GAA	-																															gcgatgcttaggtgcttcatGaagaagaagaggcgcgagtg																										TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:8809643_8809645delGAA	ENST00000316793.3	-	3	853_855	c.229_231delTTC	c.(229-231)del	p.F77del	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	77					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGTGCTTCATGAAGAAGAAGAGG	0.635													5	8	---	---	---	---					-	8809645	GAA	-	8809643	7	5	409	1	0	1	0	1	0	0	0	0	11409	1281	45	0	946	0	OXTR	3	8809643	In_Frame_Del	DEL	GAA	TCGA-H7-7774-01A-21D-2078-08		8809643	189212787	26	81888											
MTMR14	64419	broad.mit.edu	37	chr3	9691417	9691417	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggcagcgggaccggCggctctaaggtgagattgga	10	6	18	7	3	1	1	0	1	1	1	1	5	1	4	1	7	1	2	1	7	2	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:9691417C>A	ENST00000296003.4	+	1	272	c.150C>A	c.(148-150)ggC>ggA	p.G50G	MTMR14_ENST00000351233.5_Silent_p.G50G|MTMR14_ENST00000353332.5_Silent_p.G50G|MTMR14_ENST00000420925.1_Silent_p.G50G	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	50						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCGGGACCGGCGGCTCTAAGG	0.612													7	13					5.18039e-06	5.4666e-06	1	0	A	9691417	C	A	9691417	2	1	409	1	0	0	0	0	0	0	0	1	10012	755	27	3		3	MTMR14	3	9691417	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	881774	9691417	188331013	27	81889											
PLCL2	23228	broad.mit.edu	37	chr3	17056295	17056295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccgctttctggggccCgataacacacccctagtggt	6	10	9	16	2	2	0	0	0	2	0	3	1	2	0	5	3	1	1	5	3	2	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:17056295C>T	ENST00000418129.2	+	3	2997	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	PLCL2_ENST00000396755.2_Silent_p.P844P|PLCL2_ENST00000432376.1_Silent_p.P844P	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	970	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTCTGGGGCCCGATAACACAC	0.542													43	115					0	0	0	0	T	17056295	C	T	17056295	2	4	409	1	0	0	0	0	0	0	0	1	12112	639	23	1		1	PLCL2	3	17056295	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	7364878	17056295	180966135	28	81890											
TBC1D5	9779	broad.mit.edu	37	chr3	17226630	17226630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccatcacctttgcacagTatttgcacatggcatccagg	9	12	8	12	0	1	0	1	0	0	0	3	0	3	0	3	2	2	4	3	2	1	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:17226630T>C	ENST00000253692.7	-	19	3487	c.1823A>G	c.(1822-1824)tAc>tGc	p.Y608C	TBC1D5_ENST00000429383.4_Missense_Mutation_p.Y608C|TBC1D5_ENST00000429924.2_Missense_Mutation_p.Y582C|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.Y630C	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	608						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTTTGCACAGTATTTGCACAT	0.398													18	50					0	0	0	0	C	17226630	T	C	17226630	3	2	409	1	0	0	0	0	1	0	0	0	15717	1638	57	5	580	5	TBC1D5	3	17226630	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08	170335	17226630	180795800	29	81891											
ZCWPW2	152098	broad.mit.edu	37	chr3	28557085	28557085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttgaaaatgtttattctGatgatgccttatcaaaggag	12	16	8	5	0	2	3	1	3	1	0	2	4	2	4	1	1	1	1	1	1	5	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:28557085G>A	ENST00000383768.2	+	8	945	c.757G>A	c.(757-759)Gat>Aat	p.D253N	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.D253N			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	253							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TGTTTATTCTGATGATGCCTT	0.308													7	20					0	0	0	0	A	28557085	G	A	28557085	3	1	409	1	0	0	0	0	1	0	0	0	17693	1290	45	2	779	2	ZCWPW2	3	28557085	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	11330455	28557085	169465345	30	81892											
SETD2	29072	broad.mit.edu	37	chr3	47147603	47147603	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacaatattctaggacaaAggtgttcctgcaaaccaaaa	16	9	6	10	0	1	0	0	0	1	0	3	1	3	1	3	2	2	2	3	2	7	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:47147603A>T	ENST00000409792.3	-	6	4765	c.4723T>A	c.(4723-4725)Ttt>Att	p.F1575I		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1575	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTAGGACAAAGGTGTTCCTG	0.363			"N, F, S, Mis"		clear cell renal carcinoma								10	26					0	0	0	0	T	47147603	A	T	47147603	3	4	409	1	0	0	0	0	1	0	0	0	14218	72	3	5	3035	5	SETD2	3	47147603	Missense_Mutation	SNP	A	TCGA-H7-7774-01A-21D-2078-08	18590518	47147603	150874827	31	81893											
PLXNB1	5364	broad.mit.edu	37	chr3	48460693	48460693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctagcagccggatttccCgctccacatggaccggcatc	7	8	10	16	3	0	0	0	0	0	0	3	2	2	2	5	3	3	3	5	3	1	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:48460693C>G	ENST00000358536.4	-	12	3061	c.2792G>C	c.(2791-2793)cGg>cCg	p.R931P	PLXNB1_ENST00000296440.6_Missense_Mutation_p.R931P|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R748P|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R748P|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	931					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGGATTTCCCGCTCCACATG	0.612													9	12					0	0	0	0	G	48460693	C	G	48460693	3	3	409	1	0	0	0	0	1	0	0	0	12195	652	23	3	3723	3	PLXNB1	3	48460693	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	1313090	48460693	149561737	32	81894											
CADM2	253559	broad.mit.edu	37	chr3	85932554	85932554	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacctgttctttatttacaAtgcctgtcaaaacttccaag	12	14	4	11	0	2	0	1	0	1	0	3	0	3	0	3	0	3	1	3	0	6	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:85932554A>T	ENST00000383699.3	+	4	979	c.352A>T	c.(352-354)Atg>Ttg	p.M118L	CADM2_ENST00000405615.2_Missense_Mutation_p.M111L|CADM2_ENST00000407528.2_Missense_Mutation_p.M109L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	109	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTTATTTACAATGCCTGTCAA	0.428													13	22					0	0	0	0	T	85932554	A	T	85932554	3	4	409	1	0	0	0	0	1	0	0	0	2592	101	4	5	406	5	CADM2	3	85932554	Missense_Mutation	SNP	A	TCGA-H7-7774-01A-21D-2078-08	37471861	85932554	112089876	33	81895											
EPHA3	2042	broad.mit.edu	37	chr3	89468369	89468369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taacaggtgaatttggagagGtgtgcagtggtcgcttaaaa	12	11	14	4	1	0	2	0	1	0	1	1	3	0	2	0	4	2	2	0	4	4	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:89468369G>T	ENST00000336596.2	+	11	2128	c.1903G>T	c.(1903-1905)Gtg>Ttg	p.V635L	EPHA3_ENST00000494014.1_Missense_Mutation_p.V635L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	635	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			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)		ATTTGGAGAGGTGTGCAGTGG	0.363										TSP Lung(6;0.00050)			25	41					7.92952e-12	8.80546e-12	1	0	T	89468369	G	T	89468369	3	4	409	1	0	0	0	0	1	0	0	0	5206	1261	44	4	1971	4	EPHA3	3	89468369	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	3535815	89468369	108554061	34	81896											
ADCY5	111	broad.mit.edu	37	chr3	123046600	123046600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtgtagccttggtgatgtgGatgcgtctacaggggggcag	7	10	18	6	1	1	1	0	1	1	0	1	2	1	2	1	5	3	2	1	5	2	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:123046600G>C	ENST00000462833.1	-	7	3024	c.1812C>G	c.(1810-1812)atC>atG	p.I604M	ADCY5_ENST00000309879.5_Missense_Mutation_p.I254M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I237M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	604					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGTGATGTGGATGCGTCTAC	0.552													3	25					0	0	0	0	C	123046600	G	C	123046600	3	2	409	1	0	0	0	0	1	0	0	0	297	1164	41	2	2033	2	ADCY5	3	123046600	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	33578231	123046600	74975830	35	81897											
GHSR	2693	broad.mit.edu	37	chr3	172165820	172165820	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggtgagcaccgtggcGtaggtgcagctctcactgac	7	9	15	10	2	1	3	1	3	1	0	2	3	1	3	1	3	3	4	1	3	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:172165820G>A	ENST00000241256.2	-	1	426	c.384C>T	c.(382-384)taC>taT	p.Y128Y	GHSR_ENST00000427970.1_Silent_p.Y128Y	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	128					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCACCGTGGCGTAGGTGCAGC	0.632													8	19					0	0	0	0	A	172165820	G	A	172165820	2	1	409	1	0	0	0	0	0	0	0	1	6426	1140	40	1		1	GHSR	3	172165820	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	49119220	172165820	25856610	36	81898											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	61					0	0	0	0	G	178952085	A	G	178952085	3	3	409	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-H7-7774-01A-21D-2078-08	6786265	178952085	19070345	37	81899											
RGS12	6002	broad.mit.edu	37	chr4	3318626	3318626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccattgagcttccttccacGagctccaacctggagtccga	8	10	8	15	2	0	1	0	1	0	0	5	4	5	2	6	1	3	2	6	1	1	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:3318626G>A	ENST00000336727.3	+	2	1633	c.729G>A	c.(727-729)acG>acA	p.T243T	RGS12_ENST00000543385.1_Silent_p.T243T|RGS12_ENST00000344733.5_Silent_p.T243T|RGS12_ENST00000382788.3_Silent_p.T243T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	243	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCCTTCCACGAGCTCCAACC	0.532													13	46					0	0	0	0	A	3318626	G	A	3318626	2	1	409	1	0	0	0	0	0	0	0	1	13378	1045	37	1		1	RGS12	4	3318626	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08		3318626	187835650	38	81900											
CLOCK	9575	broad.mit.edu	37	chr4	56315585	56315585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactactaaatgatgaccttCtttgcaccatcttctcatga	11	14	5	11	0	3	3	1	3	3	0	4	4	3	3	2	0	2	1	2	0	3	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:56315585C>G	ENST00000309964.4	-	16	1677	c.1427G>C	c.(1426-1428)aGa>aCa	p.R476T	CLOCK_ENST00000381322.1_Missense_Mutation_p.R476T|CLOCK_ENST00000513440.1_Missense_Mutation_p.R476T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	476					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGATGACCTTCTTTGCACCAT	0.398													23	48					0	0	0	0	G	56315585	C	G	56315585	3	3	409	1	0	0	0	0	1	0	0	0	3579	913	32	2	1141	2	CLOCK	4	56315585	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	52996959	56315585	134838691	39	81901											
FAT4	79633	broad.mit.edu	37	chr4	126412412	126412412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgcagaccatgggaGgtcttcttcagaggaggact	9	9	14	9	0	3	2	1	0	2	2	3	5	3	5	1	4	2	2	1	4	0	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:126412412G>T	ENST00000394329.3	+	17	14448	c.14435G>T	c.(14434-14436)aGg>aTg	p.R4812M	FAT4_ENST00000335110.5_Missense_Mutation_p.R3053M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4812					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACCATGGGAGGTCTTCTTCA	0.512													21	45					2.39187e-15	2.68734e-15	1	0	T	126412412	G	T	126412412	3	4	409	1	0	0	0	0	1	0	0	0	5737	1000	35	4	14501	4	FAT4	4	126412412	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	70096827	126412412	64741864	40	81902											
TMEM184C	55751	broad.mit.edu	37	chr4	148554974	148554974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcatcattacacattctCatataaaccatatgtccaag	14	13	3	11	0	3	0	3	0	1	0	5	0	4	0	2	0	3	1	2	0	6	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:148554974C>T	ENST00000296582.3	+	9	1512	c.938C>T	c.(937-939)tCa>tTa	p.S313L	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	313						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TACACATTCTCATATAAACCA	0.368													4	83					0	0	0	0	T	148554974	C	T	148554974	3	4	409	1	0	0	0	0	1	0	0	0	16200	838	29	2	972	2	TMEM184C	4	148554974	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	22142562	148554974	42599302	41	81903											
TIGD4	201798	broad.mit.edu	37	chr4	153691769	153691770	+	Frame_Shift_Ins	INS	-	-	A																															aaacgatccagccaaccattINSactgcacttaaaatcattat																										TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:153691769_153691770insA	ENST00000304337.2	-	2	1207_1208	c.387_388insT	c.(385-390)agatggfs	p.RW129fs		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	129	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGCCAACCATTACTGCACTTAA	0.416													17	47	---	---	---	---					A	153691770	-	A	153691769	7	5	409	1	0	1	1	0	0	0	0	0	15992	1754	61	0	1154	0	TIGD4	4	153691769	Frame_Shift_Ins	INS	-	TCGA-H7-7774-01A-21D-2078-08	5136795	153691769	37462507	42	81904											
FAT1	2195	broad.mit.edu	37	chr4	187525008	187525008	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacgccacctgagtattCttctccagaagaggtgatga	12	10	10	9	1	2	6	0	4	2	2	3	6	2	6	3	1	0	1	3	1	3	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:187525008C>A	ENST00000441802.2	-	19	10881	c.10672G>T	c.(10672-10674)Gaa>Taa	p.E3558*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3558	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTGAGTATTCTTCTCCAGAA	0.473										HNSCC(5;0.00058)			7	28					8.12818e-05	8.43741e-05	1	0	A	187525008	C	A	187525008	4	1	409	1	0	0	0	0	0	1	0	0	5734	922	32	2	3130	2	FAT1	4	187525008	Nonsense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	33833239	187525008	3629268	43	81905											
FAT1	2195	broad.mit.edu	37	chr4	187539863	187539863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgatgtcggcattggagCcctcatcggcatcacttgca	8	10	12	11	2	2	1	2	1	0	0	4	2	2	2	1	4	2	3	1	4	0	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:187539863C>T	ENST00000441802.2	-	10	8086	c.7877G>A	c.(7876-7878)gGc>gAc	p.G2626D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2626	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCATTGGAGCCCTCATCGGC	0.448										HNSCC(5;0.00058)			9	27					0	0	0	0	T	187539863	C	T	187539863	3	4	409	1	0	0	0	0	1	0	0	0	5734	739	26	4	5961	4	FAT1	4	187539863	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	14855	187539863	3614413	44	81906											
SPEF2	79925	broad.mit.edu	37	chr5	35659168	35659168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccggctgatgcggcagtcCcagcaggagcgcaggattgc	9	5	15	12	3	0	1	0	1	0	0	1	3	1	3	2	4	5	4	2	4	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:35659168C>T	ENST00000440995.2	+	8	1026	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	SPEF2_ENST00000509059.1_Silent_p.S342S|SPEF2_ENST00000282469.6_Silent_p.S342S|SPEF2_ENST00000356031.3_Silent_p.S342S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	342					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCGGCAGTCCCAGCAGGAGC	0.468													11	18					0	0	0	0	T	35659168	C	T	35659168	2	4	409	1	0	0	0	0	0	0	0	1	15125	610	22	4		4	SPEF2	5	35659168	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08		35659168	145256092	45	81907											
JMY	133746	broad.mit.edu	37	chr5	78611869	78611869	+	Frame_Shift_Del	DEL	T	T	-																															gcctccttgaagcgtggtagTtttcatctgaaaaaggttga																										TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:78611869delT	ENST00000396137.4	+	10	3168	c.2706delT	c.(2704-2706)agfs	p.S902fs	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	902					'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			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)		AGCGTGGTAGTTTTCATCTGA	0.393													23	81	---	---	---	---					-	78611869	T	-	78611869	7	5	409	1	0	1	0	1	0	0	0	0	8010	1722	60	0	2744	0	JMY	5	78611869	Frame_Shift_Del	DEL	T	TCGA-H7-7774-01A-21D-2078-08	42952701	78611869	102303391	46	81908											
MEF2C	4208	broad.mit.edu	37	chr5	88027717	88027717	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggggattgccatacccgttCcctgttaacaaaaaacaata	14	9	7	11	2	0	0	0	0	0	0	1	1	1	1	3	2	4	2	3	2	7	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:88027717C>T	ENST00000504921.2	-	7	1311	c.637_splice	c.e7-1	p.G213_splice	MEF2C_ENST00000539796.1_Splice_Site_p.G165_splice|MEF2C_ENST00000506554.1_Splice_Site_p.G213_splice|MEF2C_ENST00000514015.1_Splice_Site_p.G213_splice|MEF2C_ENST00000510942.1_Splice_Site_p.G213_splice|MEF2C_ENST00000514028.1_Splice_Site_p.G213_splice|MEF2C_ENST00000424173.2_Splice_Site_p.G211_splice|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000340208.5_Splice_Site_p.G231_splice|MEF2C_ENST00000508569.1_Splice_Site_p.G213_splice|MEF2C_ENST00000437473.2_Splice_Site_p.G213_splice			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	213					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CATACCCGTTCCCTGTTAACA	0.388										HNSCC(66;0.2)			6	11					0	0	0	0	T	88027717	C	T	88027717	5	4	409	1	0	0	0	0	0	0	1	0	9526	869	30	2	802	2	MEF2C	5	88027717	Splice_Site	SNP	C	TCGA-H7-7774-01A-21D-2078-08	9415848	88027717	92887543	47	81909											
PCDHA9	9752	broad.mit.edu	37	chr5	140230437	140230437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggatctacagagcgaaCgggagaaccctctgcttcct	9	9	11	12	2	2	2	0	0	2	2	3	5	3	3	2	2	6	2	2	2	3	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:140230437C>T	ENST00000378122.3	+	1	3081	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.T786M|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGCGAACGGGAGAACCC	0.463													17	53					0	0	0	0	T	140230437	C	T	140230437	3	4	409	1	0	0	0	0	1	0	0	0	11602	536	19	1	2359	1	PCDHA9	5	140230437	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	52202720	140230437	40684823	48	81910											
PCDHA12	56137	broad.mit.edu	37	chr5	140257232	140257232	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgctgcgttgctcagcGccgcccaccgtgagccggtg	4	7	14	16	6	1	1	1	1	0	0	1	1	1	1	4	1	5	3	4	1	0	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:140257232G>A	ENST00000398631.2	+	1	2175	c.2175G>A	c.(2173-2175)gcG>gcA	p.A725A	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGCTCAGCGCCGCCCACCG	0.647													4	26					0	0	0	0	A	140257232	G	A	140257232	2	1	409	1	0	0	0	0	0	0	0	1	11593	1074	38	1		1	PCDHA12	5	140257232	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	26795	140257232	40658028	49	81911											
KCNIP1	30820	broad.mit.edu	37	chr5	170148874	170148874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattacctcttcaatgccttCgacaccactcagacaggctc	10	10	5	16	1	3	1	2	0	1	1	5	2	3	1	3	1	2	1	3	1	2	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:170148874C>T	ENST00000328939.4	+	4	831	c.294C>T	c.(292-294)ttC>ttT	p.F98F	KCNIP1_ENST00000411494.1_Silent_p.F109F|KCNIP1_ENST00000520740.1_Silent_p.F70F|KCNIP1_ENST00000390656.4_Silent_p.F98F|KCNIP1_ENST00000377360.4_Silent_p.F107F|KCNIP1_ENST00000434108.1_Silent_p.F123F	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	109	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.F109F(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGCCTTCGACACCACTC	0.547													51	96					0	0	0	0	T	170148874	C	T	170148874	2	4	409	1	0	0	0	0	0	0	0	1	8092	883	31	1		1	KCNIP1	5	170148874	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	29891642	170148874	10766386	50	81912											
BMP6	654	broad.mit.edu	37	chr6	7727808	7727808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagcgcgcaggacagcgCcttcctcaacgacgcggaca	10	3	12	16	6	1	0	1	0	0	0	2	4	2	2	3	2	3	1	3	2	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:7727808C>T	ENST00000283147.6	+	1	779	c.620C>T	c.(619-621)gCc>gTc	p.A207V		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	207					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAGGACAGCGCCTTCCTCAAC	0.647													5	14					0	0	0	0	T	7727808	C	T	7727808	3	4	409	1	0	0	0	0	1	0	0	0	1469	739	26	4	622	4	BMP6	6	7727808	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08		7727808	163387259	51	81913											
C6orf62	81688	broad.mit.edu	37	chr6	24709057	24709059	+	In_Frame_Del	DEL	ACA	ACA	-																															ctgactggttaggattgttgAcaacgattccagtcttgtcc																										TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:24709057_24709059delACA	ENST00000378119.4	-	4	2677_2679	c.510_512delTGT	c.(508-513)gtc>gt	p.VV170del	C6orf62_ENST00000540769.1_In_Frame_Del_p.VV112del|C6orf62_ENST00000378102.3_In_Frame_Del_p.VV141del	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	170						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						AGGATTGTTGACAACGATTCCAG	0.384													19	92	---	---	---	---					-	24709059	ACA	-	24709057	7	5	409	1	0	1	0	1	0	0	0	0	2390	275	10	0	185	0	C6orf62	6	24709057	In_Frame_Del	DEL	ACA	TCGA-H7-7774-01A-21D-2078-08	16981249	24709057	146406010	52	81914											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056394	26056394	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagagtgcccttgctcAccaggctcttgagaccaagt	9	8	10	14	0	2	2	1	1	1	2	2	3	2	2	4	1	2	3	4	1	1	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:26056394A>C	ENST00000343677.2	-	1	305	c.263T>G	c.(262-264)gTg>gGg	p.V88G		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	88	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCCCTTGCTCACCAGGCTCTT	0.532													14	94					0	0	0	0	C	26056394	A	C	26056394	3	2	409	1	0	0	0	0	1	0	0	0	7174	159	6	5	382	5	HIST1H1C	6	26056394	Missense_Mutation	SNP	A	TCGA-H7-7774-01A-21D-2078-08	1347337	26056394	145058673	53	81915											
FKBPL	63943	broad.mit.edu	37	chr6	32097032	32097032	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagagtgcccaggcagctGaagctctgcttcctcacctt	7	10	9	15	0	2	2	1	1	1	1	4	2	4	2	4	1	4	4	4	1	1	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:32097032G>A	ENST00000375156.3	-	2	796	c.526C>T	c.(526-528)Cag>Tag	p.Q176*		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	176					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CCAGGCAGCTGAAGCTCTGCT	0.572													10	149					0	0	0	0	A	32097032	G	A	32097032	4	1	409	1	0	0	0	0	0	1	0	0	5961	1299	45	2	527	2	FKBPL	6	32097032	Nonsense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	6040638	32097032	139018035	54	81916											
HACE1	57531	broad.mit.edu	37	chr6	105233004	105233004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggtttagattcccttgtgCcagtggacagattttcatag	8	15	10	8	0	1	2	1	0	0	2	2	3	2	3	2	2	1	1	2	2	2	7			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:105233004C>T	ENST00000262903.4	-	12	1541	c.1265G>A	c.(1264-1266)gGc>gAc	p.G422D	HACE1_ENST00000369125.2_Missense_Mutation_p.G422D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	422					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCCCTTGTGCCAGTGGACAG	0.458													3	46					0	0	0	0	T	105233004	C	T	105233004	3	4	409	1	0	0	0	0	1	0	0	0	6990	739	26	4	1516	4	HACE1	6	105233004	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	73135972	105233004	65882063	55	81917											
HS3ST5	222537	broad.mit.edu	37	chr6	114378489	114378489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggatgaaagaatttgcGcaatttagtaatgacagagg	18	9	11	3	1	0	4	0	2	0	2	0	5	0	5	0	2	1	2	0	2	7	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:114378489G>A	ENST00000312719.5	-	5	2161	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R325C			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	325					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGAATTTGCGCAATTTAGTA	0.408													23	44					0	0	0	0	A	114378489	G	A	114378489	3	1	409	1	0	0	0	0	1	0	0	0	7418	1087	38	1	71	1	HS3ST5	6	114378489	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	9145485	114378489	56736578	56	81918											
LAMA2	3908	broad.mit.edu	37	chr6	129649434	129649434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcaggcatgcttgccGggattttatcgactgcgttc	5	16	10	10	3	2	0	1	0	1	0	4	2	2	1	1	2	3	3	1	2	1	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:129649434G>A	ENST00000421865.2	+	29	4237	c.4188G>A	c.(4186-4188)ccG>ccA	p.P1396P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1396	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.P1396P(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATGCTTGCCGGGATTTTATC	0.507													21	73					0	0	0	0	A	129649434	G	A	129649434	2	1	409	1	0	0	0	0	0	0	0	1	8659	1103	39	1		1	LAMA2	6	129649434	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	15270945	129649434	41465633	57	81919											
TCF21	6943	broad.mit.edu	37	chr6	134210907	134210907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacacgctcaggctggcGtccagctacatcgcccactt	7	8	10	16	3	1	0	1	0	0	0	3	1	2	1	2	3	2	3	2	3	1	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:134210907G>A	ENST00000367882.4	+	1	632	c.372G>A	c.(370-372)gcG>gcA	p.A124A	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.A124A	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	124	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCAGGCTGGCGTCCAGCTACA	0.617													32	94					0	0	0	0	A	134210907	G	A	134210907	2	1	409	1	0	0	0	0	0	0	0	1	15785	1132	40	1		1	TCF21	6	134210907	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	4561473	134210907	36904160	58	81920											
AIG1	51390	broad.mit.edu	37	chr6	143605338	143605338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggacttaccgccatatgtaCcttctctgttggctatatat	8	15	7	11	2	1	0	0	0	1	0	2	1	1	1	3	2	2	3	3	2	6	8			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:143605338C>T	ENST00000357847.4	+	4	541	c.491C>T	c.(490-492)aCc>aTc	p.T164I	AIG1_ENST00000344492.5_Missense_Mutation_p.T112I|AIG1_ENST00000275235.4_Missense_Mutation_p.T164I	NM_016108.2	NP_057192.2	Q9NVV5	AIG1_HUMAN	androgen-induced 1	164						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		GCCATATGTACCTTCTCTGTT	0.433													4	31					0	0	0	0	T	143605338	C	T	143605338	3	4	409	1	0	0	0	0	1	0	0	0	429	507	18	4	505	4	AIG1	6	143605338	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	9394431	143605338	27509729	59	81921											
SUN1	23353	broad.mit.edu	37	chr7	883126	883126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggcccccgggcccgtgtcGagagtttattctagggacag	6	8	15	12	4	1	1	0	0	1	1	2	3	1	2	3	3	0	1	3	3	2	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:883126G>A	ENST00000456758.2	+	8	801	c.801G>A	c.(799-801)tcG>tcA	p.S267S	SUN1_ENST00000425407.2_Silent_p.S159S|SUN1_ENST00000389574.3_Silent_p.S159S|SUN1_ENST00000403868.1_Silent_p.S209S|SUN1_ENST00000401592.1_Silent_p.S209S|SUN1_ENST00000457378.2_Silent_p.S230S|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000405266.1_Silent_p.S209S			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	209	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.S159S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCCGTGTCGAGAGTTTATT	0.522													47	144					0	0	0	0	A	883126	G	A	883126	2	1	409	1	0	0	0	0	0	0	0	1	15481	1045	37	1		1	SUN1	7	883126	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08		883126	158255537	60	81922											
RAC1	5879	broad.mit.edu	37	chr7	6426860	6426860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagctgtaggtaaaacttGcctactgatcagttacacaa	14	11	8	8	0	1	2	1	1	0	1	1	2	1	2	1	1	5	4	1	1	7	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:6426860G>A	ENST00000348035.4	+	2	266	c.53G>A	c.(52-54)tGc>tAc	p.C18Y	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.C18Y	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	18					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GGTAAAACTTGCCTACTGATC	0.338													17	41					0	0	0	0	A	6426860	G	A	6426860	3	1	409	1	0	0	0	0	1	0	0	0	13056	1319	46	4	59	4	RAC1	7	6426860	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	5543734	6426860	152711803	61	81923											
DFNA5	1687	broad.mit.edu	37	chr7	24756873	24756873	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataggaggtggcactcacCgaactggccgtccagtttca	9	8	11	13	2	2	0	2	0	0	0	3	2	3	1	4	4	1	2	4	4	2	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:24756873C>T	ENST00000545231.1	-	7	1355	c.205_splice	c.e7+1	p.E69_splice	DFNA5_ENST00000409970.1_Splice_Site_p.E69_splice|DFNA5_ENST00000342947.3_Splice_Site_p.E233_splice|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Splice_Site_p.E69_splice|DFNA5_ENST00000409775.3_Splice_Site_p.E233_splice			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	233					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGGCACTCACCGAACTGGCCG	0.562													10	35					0	0	0	0	T	24756873	C	T	24756873	5	4	409	1	0	0	0	0	0	0	1	0	4491	666	23	1	817	1	DFNA5	7	24756873	Splice_Site	SNP	C	TCGA-H7-7774-01A-21D-2078-08	18330013	24756873	134381790	62	81924											
PKD1L1	168507	broad.mit.edu	37	chr7	47944031	47944031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacggtgccatccccaaaGtcccacaggtaggcaacatc	11	6	9	15	1	0	1	0	1	0	0	3	1	2	1	4	3	2	2	4	3	3	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:47944031G>T	ENST00000289672.2	-	12	1925	c.1875C>A	c.(1873-1875)gaC>gaA	p.D625E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	625	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATCCCCAAAGTCCCACAGGT	0.602													13	25					2.27111e-07	2.4099e-07	1	0	T	47944031	G	T	47944031	3	4	409	1	0	0	0	0	1	0	0	0	12036	1020	36	4	6858	4	PKD1L1	7	47944031	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	23187158	47944031	111194632	63	81925											
ZNF479	90827	broad.mit.edu	37	chr7	57188354	57188354	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagttctcttatgtctagtAaggtttgcagaccagctaaa	11	14	9	7	0	2	2	0	1	2	1	3	2	2	2	1	1	2	5	1	1	5	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:57188354A>G	ENST00000331162.4	-	5	1038	c.768T>C	c.(766-768)ctT>ctC	p.L256L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TATGTCTAGTAAGGTTTGCAG	0.428													6	32					0	0	0	0	G	57188354	A	G	57188354	2	3	409	1	0	0	0	0	0	0	0	1	18028	349	13	5		5	ZNF479	7	57188354	Silent	SNP	A	TCGA-H7-7774-01A-21D-2078-08	9244323	57188354	101950309	64	81926											
HIP1	3092	broad.mit.edu	37	chr7	75192259	75192259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgctgagaggcatccatgtCcatgaggtcatccttctcta	8	12	9	12	0	2	2	1	2	1	1	6	3	5	2	3	2	1	2	3	2	1	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:75192259C>T	ENST00000336926.6	-	11	1026	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	HIP1_ENST00000434438.2_Missense_Mutation_p.D334N	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	334					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCATCCATGTCCATGAGGTCA	0.592			T	PDGFRB	CMML								4	27					0	0	0	0	T	75192259	C	T	75192259	3	4	409	1	0	0	0	0	1	0	0	0	7164	855	30	2	2197	2	HIP1	7	75192259	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	18003905	75192259	83946404	65	81927											
PLXNA4	91584	broad.mit.edu	37	chr7	131849918	131849918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacttgtagaggaggaaaGtaaaccaattggtcagcatc	15	8	12	6	0	1	1	1	0	0	1	2	4	1	4	1	4	3	3	1	4	6	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:131849918G>A	ENST00000359827.3	-	23	5290	c.4328C>T	c.(4327-4329)aCt>aTt	p.T1443I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1443I			Q9HCM2	PLXA4_HUMAN	plexin A4	1443						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGGAGGAAAGTAAACCAATT	0.517													19	47					0	0	0	0	A	131849918	G	A	131849918	3	1	409	1	0	0	0	0	1	0	0	0	12194	1029	36	4	1396	4	PLXNA4	7	131849918	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	56657659	131849918	27288745	66	81928											
GIMAP2	26157	broad.mit.edu	37	chr7	150389491	150389491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggcaaaagtgctgcaggGaacagcatcctcaggaagca	14	5	12	10	0	1	0	1	0	0	0	2	2	2	2	1	3	5	5	1	3	4	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:150389491G>A	ENST00000223293.5	+	3	211	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	39						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCTGCAGGGAACAGCATCC	0.512													7	23					0	0	0	0	A	150389491	G	A	150389491	2	1	409	1	0	0	0	0	0	0	0	1	6431	1161	41	2		2	GIMAP2	7	150389491	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	18539573	150389491	8749172	67	81929											
DLGAP2	9228	broad.mit.edu	37	chr8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttaaacgttctaacagcGtcacggccgccgtccaagct	9	10	9	13	5	2	0	1	0	1	0	3	0	3	0	3	1	4	3	3	1	4	4	rs34274599		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:1626408G>A	ENST00000421627.2	+	9	2211	c.2077G>A	c.(2077-2079)Gtc>Atc	p.V693I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	772					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TTCTAACAGCGTCACGGCCGC	0.557													18	36					0	0	0	0	A	1626408	G	A	1626408	3	1	409	1	0	0	0	0	1	0	0	0	4597	1145	40	1	2107	1	DLGAP2	8	1626408	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08		1626408	144737614	68	81930											
CHD7	55636	broad.mit.edu	37	chr8	61765577	61765577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtgtggacggcatgaccGagacttgctggttggtgctg	6	10	18	7	2	0	2	0	1	0	1	0	5	0	4	1	5	2	4	1	5	0	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:61765577G>A	ENST00000423902.2	+	31	6772	c.6293G>A	c.(6292-6294)cGa>cAa	p.R2098Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2098					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGGCATGACCGAGACTTGCTG	0.542													13	26					0	0	0	0	A	61765577	G	A	61765577	3	1	409	1	0	0	0	0	1	0	0	0	3359	1058	37	1	6411	1	CHD7	8	61765577	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	60139169	61765577	84598445	69	81931											
KCNB2	9312	broad.mit.edu	37	chr8	73480224	73480224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactataatctgaacgagaaCgagtatttctttgatcggca	13	12	9	7	3	2	3	0	2	2	1	3	6	2	3	0	1	2	2	0	1	5	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:73480224C>T	ENST00000523207.1	+	2	843	c.255C>T	c.(253-255)aaC>aaT	p.N85N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	85					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGAACGAGAACGAGTATTTCT	0.512													17	47					0	0	0	0	T	73480224	C	T	73480224	2	4	409	1	0	0	0	0	0	0	0	1	8066	535	19	1		1	KCNB2	8	73480224	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	11714647	73480224	72883798	70	81932											
RAD54B	25788	broad.mit.edu	37	chr8	95419835	95419835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagctgaaaacacctgcCactgctgaagtcatctggag	12	8	9	12	0	2	2	1	2	1	0	3	3	3	3	3	1	4	2	3	1	4	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:95419835C>T	ENST00000336148.5	-	5	737	c.613G>A	c.(613-615)Ggc>Agc	p.G205S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAACACCTGCCACTGCTGAAG	0.418								Direct reversal of damage;Homologous recombination					5	44					0	0	0	0	T	95419835	C	T	95419835	3	4	409	1	0	0	0	0	1	0	0	0	13074	594	21	4	2163	4	RAD54B	8	95419835	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	21939611	95419835	50944187	71	81933											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412468	110412468	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacacatttgttgcacgcttTagtggatttttggtggctcc	6	16	11	8	1	0	0	0	0	0	0	1	2	1	1	1	3	1	4	1	3	1	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:110412468T>C	ENST00000378402.5	+	13	1280	c.1176T>C	c.(1174-1176)ttT>ttC	p.F392F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	392					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGCACGCTTTAGTGGATTTT	0.418										HNSCC(38;0.096)			23	228					0	0	0	0	C	110412468	T	C	110412468	2	2	409	1	0	0	0	0	0	0	0	1	12044	1751	61	5		5	PKHD1L1	8	110412468	Silent	SNP	T	TCGA-H7-7774-01A-21D-2078-08	14992633	110412468	35951554	72	81934											
PKHD1L1	93035	broad.mit.edu	37	chr8	110535536	110535536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactccaataataaccaagtCaatggccttagtggaaatac	16	9	7	9	0	1	0	1	0	0	0	2	2	2	1	3	2	2	0	3	2	8	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:110535536C>T	ENST00000378402.5	+	76	12509	c.12405C>T	c.(12403-12405)gtC>gtT	p.V4135V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4135					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATAACCAAGTCAATGGCCTTA	0.398										HNSCC(38;0.096)			18	48					0	0	0	0	T	110535536	C	T	110535536	2	4	409	1	0	0	0	0	0	0	0	1	12044	813	29	2		2	PKHD1L1	8	110535536	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	123068	110535536	35828486	73	81935											
CSMD3	114788	broad.mit.edu	37	chr8	113353856	113353856	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttctgaggatccacttcGtacttccaaataatcatgta	12	14	6	9	1	2	1	1	1	1	0	5	2	4	2	2	1	1	3	2	1	4	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:113353856G>A	ENST00000297405.5	-	42	6746	c.6502C>T	c.(6502-6504)Cga>Tga	p.R2168*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2098*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2128*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2064*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2168	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATCCACTTCGTACTTCCAAA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	18					0	0	0	0	A	113353856	G	A	113353856	4	1	409	1	0	0	0	0	0	1	0	0	3978	1153	40	1	4741	1	CSMD3	8	113353856	Nonsense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	2818320	113353856	33010166	74	81936											
EIF3H	8667	broad.mit.edu	37	chr8	117658786	117658786	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaggtcctcctcagggagCgggggttctcctcggctctg	4	9	15	13	2	3	0	1	0	2	0	7	2	5	1	3	5	1	2	3	5	0	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:117658786C>A	ENST00000521861.1	-	7	908	c.885G>T	c.(883-885)ccG>ccT	p.P295P	EIF3H_ENST00000276682.4_Silent_p.P309P	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	295					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CCTCAGGGAGCGGGGGTTCTC	0.527													44	131					2.47872e-24	2.81807e-24	1	0	A	117658786	C	A	117658786	2	1	409	1	0	0	0	0	0	0	0	1	5056	755	27	3		3	EIF3H	8	117658786	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	4304930	117658786	28705236	75	81937											
PLEC	5339	broad.mit.edu	37	chr8	144991068	144991068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagcagccgctgcccCgtgatgttatccaccaggtt	6	9	10	16	2	0	1	0	1	0	0	2	1	2	1	7	1	3	4	7	1	1	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:144991068C>T	ENST00000322810.4	-	32	13501	c.13332G>A	c.(13330-13332)acG>acA	p.T4444T	PLEC_ENST00000398774.2_Silent_p.T4275T|PLEC_ENST00000357649.2_Silent_p.T4311T|PLEC_ENST00000345136.3_Silent_p.T4307T|PLEC_ENST00000436759.2_Silent_p.T4334T|PLEC_ENST00000356346.3_Silent_p.T4293T|PLEC_ENST00000527096.1_Silent_p.T4330T|PLEC_ENST00000354958.2_Silent_p.T4285T|PLEC_ENST00000354589.3_Silent_p.T4307T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4444	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCTGCCCCGTGATGTTAT	0.677													3	47					0	0	0	0	T	144991068	C	T	144991068	2	4	409	1	0	0	0	0	0	0	0	1	12124	639	23	1		1	PLEC	8	144991068	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	27332282	144991068	1372954	76	81938											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18574122	18574122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttatgaatggcttcctgTgtctaatgaccctgacaacc	9	14	8	10	0	1	3	0	3	1	0	2	3	2	3	3	1	1	2	3	1	4	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:18574122T>C	ENST00000380548.4	+	4	671	c.332T>C	c.(331-333)gTg>gCg	p.V111A	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.V111A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	111						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)		TGGCTTCCTGTGTCTAATGAC	0.498													41	108					0	0	0	0	C	18574122	T	C	18574122	3	2	409	1	0	0	0	0	1	0	0	0	274	1696	59	5	346	5	ADAMTSL1	9	18574122	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08		18574122	122639309	77	81939											
VCP	7415	broad.mit.edu	37	chr9	35059087	35059087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgggtttgtctgcctctCtcgttctcgcctaatctcac	4	16	8	13	2	4	1	1	1	4	0	8	1	4	1	2	1	1	2	2	1	1	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:35059087C>T	ENST00000358901.6	-	15	3029	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	712					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCTGCCTCTCTCGTTCTCGC	0.552													21	54					0	0	0	0	T	35059087	C	T	35059087	3	4	409	1	0	0	0	0	1	0	0	0	17236	922	32	2	298	2	VCP	9	35059087	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	16484965	35059087	106154344	78	81940											
FBXO10	26267	broad.mit.edu	37	chr9	37518327	37518327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgctgttgttggccactCgggtgggttggctgctctgg	3	13	17	8	1	1	1	0	0	1	1	2	1	1	1	1	5	2	6	1	5	0	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:37518327C>T	ENST00000432825.2	-	9	2357	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q	FBXO10_ENST00000541829.1_Missense_Mutation_p.R295Q|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	770						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTTGGCCACTCGGGTGGGTTG	0.567													14	26					0	0	0	0	T	37518327	C	T	37518327	3	4	409	1	0	0	0	0	1	0	0	0	5771	884	31	1	573	1	FBXO10	9	37518327	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	2459240	37518327	103695104	79	81941											
DCAF10	79269	broad.mit.edu	37	chr9	37854962	37854962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccattttaagagcaagaaGaactacttcaagttcaggta	15	11	7	8	0	2	3	2	0	0	3	3	3	3	3	1	1	3	3	1	1	7	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:37854962G>A	ENST00000242323.7	+	4	1111	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K	DCAF10_ENST00000483167.1_3'UTR|DCAF10_ENST00000377724.3_Missense_Mutation_p.R346K|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	346						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						AGAGCAAGAAGAACTACTTCA	0.338													19	60					0	0	0	0	A	37854962	G	A	37854962	3	1	409	1	0	0	0	0	1	0	0	0	4294	942	33	2	1051	2	DCAF10	9	37854962	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	336635	37854962	103358469	80	81942											
GDA	9615	broad.mit.edu	37	chr9	74838108	74838108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agactttgatgggtgaactgGgcaacattgctaaaacccgt	12	10	11	8	1	0	3	0	2	0	1	0	3	0	3	1	2	4	2	1	2	4	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:74838108G>A	ENST00000358399.3	+	7	772	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Intron|GDA_ENST00000376989.3_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.G227S|GDA_ENST00000545168.1_Missense_Mutation_p.G153S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	227					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGGTGAACTGGGCAACATTGC	0.428													15	63					0	0	0	0	A	74838108	G	A	74838108	3	1	409	1	0	0	0	0	1	0	0	0	6356	1232	43	4	705	4	GDA	9	74838108	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	36983146	74838108	66375323	81	81943											
TRPM6	140803	broad.mit.edu	37	chr9	77370340	77370340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgctgttttctcctGgctctggattcaactggtca	7	14	10	10	0	4	1	2	0	2	1	5	3	4	2	1	3	2	3	1	3	1	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:77370340G>A	ENST00000451710.3	-	28	5072	c.4835C>T	c.(4834-4836)cCa>cTa	p.P1612L	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.P563L|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1607L|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1612L|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1607L|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1612L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1612					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTTTCTCCTGGCTCTGGATT	0.423													26	66					0	0	0	0	A	77370340	G	A	77370340	3	1	409	1	0	0	0	0	1	0	0	0	16685	1348	47	4	1281	4	TRPM6	9	77370340	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	2532232	77370340	63843091	82	81944											
OR13C4	138804	broad.mit.edu	37	chr9	107288587	107288587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttatagcagcttttacatCtttatttctcaagctataga	11	19	4	7	0	2	1	1	0	2	1	3	1	2	1	0	0	4	3	0	0	7	10			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:107288587C>G	ENST00000277216.3	-	1	903	c.904G>C	c.(904-906)Gat>Cat	p.D302H		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCTTTTACATCTTTATTTCTC	0.378													5	70					0	0	0	0	G	107288587	C	G	107288587	3	3	409	1	0	0	0	0	1	0	0	0	11007	913	32	2	54	2	OR13C4	9	107288587	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	29918247	107288587	33924844	83	81945											
OR13C9	286362	broad.mit.edu	37	chr9	107380043	107380043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacaatccctgcaaaccagGacccaacagccatgggtaca	14	5	8	14	0	0	1	0	1	0	0	1	2	1	2	4	2	5	2	4	2	4	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:107380043G>T	ENST00000259362.1	-	1	442	c.443C>A	c.(442-444)tCc>tAc	p.S148Y		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCAAACCAGGACCCAACAGC	0.448													14	103					9.05144e-12	9.99321e-12	1	0	T	107380043	G	T	107380043	3	4	409	1	0	0	0	0	1	0	0	0	11010	1174	41	2	516	2	OR13C9	9	107380043	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	91456	107380043	33833388	84	81946											
SVEP1	79987	broad.mit.edu	37	chr9	113139598	113139598	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctggacaggaacaagcaTttgggcgttggcagatgccc	9	8	13	11	1	1	1	0	0	1	1	1	3	1	3	2	4	3	3	2	4	2	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:113139598T>A	ENST00000401783.2	-	45	10793	c.10457A>T	c.(10456-10458)aAt>aTt	p.N3486I	SVEP1_ENST00000297826.5_Missense_Mutation_p.N1412I|SVEP1_ENST00000374469.1_Missense_Mutation_p.N3463I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3486					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAACAAGCATTTGGGCGTTG	0.502													18	42					0	0	0	0	A	113139598	T	A	113139598	3	1	409	1	0	0	0	0	1	0	0	0	15510	1493	52	5	274	5	SVEP1	9	113139598	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08	5759555	113139598	28073833	85	81947											
SVEP1	79987	broad.mit.edu	37	chr9	113170974	113170974	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgccagatttctgacatgtCcaagaactgtcaccaacaag	13	10	7	11	0	2	3	1	1	1	2	3	3	3	3	3	0	3	0	3	0	4	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:113170974C>T	ENST00000401783.2	-	38	7242	c.6906G>A	c.(6904-6906)tgG>tgA	p.W2302*	SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W228*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2279*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2302	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTGACATGTCCAAGAACTGT	0.443													17	59					0	0	0	0	T	113170974	C	T	113170974	4	4	409	1	0	0	0	0	0	1	0	0	15510	856	30	2	3853	2	SVEP1	9	113170974	Nonsense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	31376	113170974	28042457	86	81948											
ZNF883	169834	broad.mit.edu	37	chr9	115760171	115760171	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcattacaaggatagggTttttctccagtatggattct	10	16	8	7	0	3	0	1	0	2	0	4	2	3	2	1	3	1	2	1	3	4	7			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:115760171T>G	ENST00000427548.1	-	0	1642							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGGATAGGGTTTTTCTCCAG	0.378													3	45					0	0	0	0	G	115760171	T	G	115760171	1	3	409	0	1	0	0	0	0	0	0	0	18291	1722	60	5		5	ZNF883	9	115760171	RNA	SNP	T	TCGA-H7-7774-01A-21D-2078-08	2589197	115760171	25453260	87	81949											
LYZL2	119180	broad.mit.edu	37	chr10	30915048	30915048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgagcaggcgacgTggcagtggttgttctccttc	5	11	12	13	2	2	1	1	1	1	0	4	2	2	1	3	3	1	4	3	3	0	3	rs143775752	byFrequency	TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:30915048T>C	ENST00000375318.2	-	3	478	c.422A>G	c.(421-423)cAc>cGc	p.H141R		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	95					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.H141L(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GCAGGCGACGTGGCAGTGGTT	0.557													11	54					0	0	0	0	C	30915048	T	C	30915048	3	2	409	1	0	0	0	0	1	0	0	0	9197	1696	59	5	174	5	LYZL2	10	30915048	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08		30915048	104619699	88	81950											
ZNF438	220929	broad.mit.edu	37	chr10	31133973	31133973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagtttggaagggtcctCacagttatgctggtgcttcc	7	12	11	11	0	1	0	1	0	0	0	3	1	3	1	3	3	2	4	3	3	2	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:31133973C>G	ENST00000538351.1	-	8	3011	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ZNF438_ENST00000361310.3_Missense_Mutation_p.E802Q|ZNF438_ENST00000444692.2_Missense_Mutation_p.E792Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E366Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E802Q|ZNF438_ENST00000452305.1_Missense_Mutation_p.E792Q|ZNF438_ENST00000442986.1_Missense_Mutation_p.E802Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E792Q|ZNF438_ENST00000436087.2_Missense_Mutation_p.E802Q	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAAGGGTCCTCACAGTTATGC	0.517													7	184					0	0	0	0	G	31133973	C	G	31133973	3	3	409	1	0	0	0	0	1	0	0	0	18005	835	29	2	86	2	ZNF438	10	31133973	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	218925	31133973	104400774	89	81951											
ANKRD30A	91074	broad.mit.edu	37	chr10	37506697	37506697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaaattagggaagaattagGaagaatcgaagagcagcata	21	6	11	3	1	0	3	0	0	0	3	1	6	0	5	0	2	2	2	0	2	10	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:37506697G>C	ENST00000374660.1	+	39	3446	c.3347G>C	c.(3346-3348)gGa>gCa	p.G1116A	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G997A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G997A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGAATTAGGAAGAATCGAA	0.318													3	40					0	0	0	0	C	37506697	G	C	37506697	3	2	409	1	0	0	0	0	1	0	0	0	658	1174	41	2	3120	2	ANKRD30A	10	37506697	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	6372724	37506697	98028050	90	81952											
ALOX5	240	broad.mit.edu	37	chr10	45941026	45941026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccatggcccgattccGcaagaacctcgaggccattg	10	6	12	13	3	0	1	0	0	0	1	2	4	1	2	5	3	2	1	5	3	3	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:45941026G>A	ENST00000374391.2	+	14	1969	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	639	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCCCGATTCCGCAAGAACCTC	0.532													7	52					0	0	0	0	A	45941026	G	A	45941026	3	1	409	1	0	0	0	0	1	0	0	0	540	1087	38	1	1970	1	ALOX5	10	45941026	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	8434329	45941026	89593721	91	81953											
CTNNA3	29119	broad.mit.edu	37	chr10	67829147	67829147	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgttgcttgtatcatcccatAtctcaatctcagcatccagc	9	13	5	14	1	3	0	3	0	2	0	7	0	5	0	2	0	3	4	2	0	3	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:67829147A>T	ENST00000433211.1	-	15	2252	c.2078T>A	c.(2077-2079)aTa>aAa	p.I693K	CTNNA3_ENST00000373735.1_Missense_Mutation_p.I32K|CTNNA3_ENST00000373744.4_Missense_Mutation_p.I693K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	693					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATCATCCCATATCTCAATCTC	0.403													35	91					0	0	0	0	T	67829147	A	T	67829147	3	4	409	1	0	0	0	0	1	0	0	0	4046	449	16	5	625	5	CTNNA3	10	67829147	Missense_Mutation	SNP	A	TCGA-H7-7774-01A-21D-2078-08	21888121	67829147	67705600	92	81954											
WAPAL	23063	broad.mit.edu	37	chr10	88232379	88232379	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcttacttctttgtctTctcgtctgcatttcagtgca	4	18	8	11	1	5	0	1	0	4	0	6	0	5	0	0	1	4	4	0	1	1	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:88232379T>A	ENST00000298767.5	-	6	2355	c.1883A>T	c.(1882-1884)gAa>gTa	p.E628V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	628	Mediates interaction with the cohesin complex.|WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTTTGTCTTCTCGTCTGCA	0.358													9	35					0	0	0	0	A	88232379	T	A	88232379	3	1	409	1	0	0	0	0	1	0	0	0	17344	1783	62	5	1745	5	WAPAL	10	88232379	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08	20403232	88232379	47302368	93	81955											
ZDHHC16	84287	broad.mit.edu	37	chr10	99211482	99211482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcccgcctctgcctccGcctccttctgctgctgggtt	0	11	10	20	3	2	0	0	0	2	0	4	0	4	0	7	2	3	3	7	2	0	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:99211482G>A	ENST00000393760.1	+	3	399	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R17H|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R17H|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R17H|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R17H|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R17H|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R17H	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	17					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CTCTGCCTCCGCCTCCTTCTG	0.667													16	23					0	0	0	0	A	99211482	G	A	99211482	3	1	409	1	0	0	0	0	1	0	0	0	17701	1087	38	1	52	1	ZDHHC16	10	99211482	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	10979103	99211482	36323265	94	81956											
SORCS3	22986	broad.mit.edu	37	chr10	106976783	106976783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccccatcgaggacggcatCaagcacgtgtataagagtgc	12	6	12	11	3	1	1	1	0	0	1	2	3	1	2	2	2	3	3	2	2	3	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:106976783C>G	ENST00000369701.3	+	19	2864	c.2637C>G	c.(2635-2637)atC>atG	p.I879M	SORCS3_ENST00000369699.4_Missense_Mutation_p.I165M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	879	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACGGCATCAAGCACGTGT	0.517													13	35					0	0	0	0	G	106976783	C	G	106976783	3	3	409	1	0	0	0	0	1	0	0	0	15020	816	29	2	2711	2	SORCS3	10	106976783	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	7765301	106976783	28557964	95	81957											
GFRA1	2674	broad.mit.edu	37	chr10	117884986	117884986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacggggtgatgtacgcCgacctgtacttcttgcaaat	8	11	12	10	3	1	1	0	1	1	0	1	2	1	1	2	2	4	4	2	2	3	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:117884986C>T	ENST00000439649.3	-	5	868	c.501G>A	c.(499-501)tcG>tcA	p.S167S	GFRA1_ENST00000355422.6_Silent_p.S172S|GFRA1_ENST00000544592.1_Silent_p.S51S|GFRA1_ENST00000369236.1_Silent_p.S167S	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	172					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGATGTACGCCGACCTGTACT	0.577													12	29					0	0	0	0	T	117884986	C	T	117884986	2	4	409	1	0	0	0	0	0	0	0	1	6398	639	23	1		1	GFRA1	10	117884986	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	10908203	117884986	17649761	96	81958											
PSMA1	5682	broad.mit.edu	37	chr11	14526746	14526746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggcttatcacttaatgttCcattggttcatcagcctttt	7	18	6	10	0	3	0	3	0	0	0	4	0	4	0	2	2	1	3	2	2	2	7			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:14526746C>T	ENST00000530457.1	-	10	1239	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	PSMA1_ENST00000418988.2_Missense_Mutation_p.E268K|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396394.2_Missense_Mutation_p.E262K|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.E262K			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	262					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACTTAATGTTCCATTGGTTCA	0.333													26	70					0	0	0	0	T	14526746	C	T	14526746	3	4	409	1	0	0	0	0	1	0	0	0	12745	864	30	2	11	2	PSMA1	11	14526746	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08		14526746	120479770	97	81959											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195639	18195639	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcgtgggctcctttaGgcagcgtcaaaataggcaga	9	11	11	10	2	2	1	1	0	1	1	4	1	3	1	1	3	1	3	1	3	4	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:18195639G>C	ENST00000314254.3	+	1	1256	c.836G>C	c.(835-837)aGg>aCg	p.R279T	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	279						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGCTCCTTTAGGCAGCGTCAA	0.488													13	66					0	0	0	0	C	18195639	G	C	18195639	3	2	409	1	0	0	0	0	1	0	0	0	9839	1000	35	4	838	4	MRGPRX4	11	18195639	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	3668893	18195639	116810877	98	81960											
IGSF22	283284	broad.mit.edu	37	chr11	18735568	18735568	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacttccatgccatccttGtaccatgtcactttgggcag	7	13	8	13	0	2	0	2	0	0	0	4	0	4	0	4	1	2	2	4	1	1	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:18735568G>T	ENST00000513874.1	-	14	2065	c.1926C>A	c.(1924-1926)taC>taA	p.Y642*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	642	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGCCATCCTTGTACCATGTCA	0.602													24	64					9.86323e-18	1.11472e-17	1	0	T	18735568	G	T	18735568	4	4	409	1	0	0	0	0	0	1	0	0	7653	1372	48	4	2094	4	IGSF22	11	18735568	Nonsense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	539929	18735568	116270948	99	81961											
ANO5	203859	broad.mit.edu	37	chr11	22257816	22257816	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactcatctgcctatccactCcatgatgtatgtataggttt	9	16	6	10	0	2	1	1	1	1	0	4	1	4	1	3	1	2	3	3	1	5	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:22257816C>A	ENST00000324559.8	+	8	1073	c.756C>A	c.(754-756)ctC>ctA	p.L252L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	252						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTATCCACTCCATGATGTAT	0.383													11	37					5.16669e-11	5.63907e-11	1	0	A	22257816	C	A	22257816	2	1	409	1	0	0	0	0	0	0	0	1	699	842	30	2		2	ANO5	11	22257816	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	3522248	22257816	112748700	100	81962											
TCP11L1	55346	broad.mit.edu	37	chr11	33083210	33083210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgagccctgttgctGtccagaattacgcttacctg	7	11	10	13	1	0	2	0	1	0	1	1	2	1	2	4	1	4	4	4	1	3	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:33083210G>A	ENST00000334274.4	+	7	1310	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	TCP11L1_ENST00000432887.1_Missense_Mutation_p.V304I|TCP11L1_ENST00000531632.2_Missense_Mutation_p.V304I|TCP11L1_ENST00000324357.9_Missense_Mutation_p.V83I	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	304										kidney(1)|liver(2)|lung(2)|skin(1)	6						CCCTGTTGCTGTCCAGAATTA	0.547													5	17					0	0	0	0	A	33083210	G	A	33083210	3	1	409	1	0	0	0	0	1	0	0	0	15808	1377	48	4	932	4	TCP11L1	11	33083210	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	10825394	33083210	101923306	101	81963											
OR4C11	219429	broad.mit.edu	37	chr11	55371357	55371357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaatagggtccacagaaagGcaatcttaaggccaggataa	17	6	10	8	0	1	1	0	0	1	1	2	2	2	2	2	4	0	1	2	4	6	3	rs141808171	byFrequency	TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:55371357G>A	ENST00000302231.4	-	1	517	c.493C>T	c.(493-495)Cct>Tct	p.P165S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCACAGAAAGGCAATCTTAAG	0.443													16	14					0	0	0	0	A	55371357	G	A	55371357	3	1	409	1	0	0	0	0	1	0	0	0	11116	1203	42	4	441	4	OR4C11	11	55371357	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	22288147	55371357	79635159	102	81964											
OR5D13	390142	broad.mit.edu	37	chr11	55541352	55541352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagctctgtgctcttctgGtggctgggtcctatacatgg	6	13	13	9	0	3	1	0	0	3	1	4	1	4	1	1	4	3	3	1	4	3	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:55541352G>T	ENST00000361760.1	+	1	439	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTCTTCTGGTGGCTGGGTC	0.403													15	137					1.99824e-07	2.1322e-07	1	0	T	55541352	G	T	55541352	3	4	409	1	0	0	0	0	1	0	0	0	11225	1261	44	4	441	4	OR5D13	11	55541352	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	169995	55541352	79465164	103	81965											
PC	5091	broad.mit.edu	37	chr11	66617416	66617416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccttccctaccttagagcGaaagggttcggggaaccccc	8	7	12	14	2	0	1	0	0	0	1	2	3	1	2	5	4	3	1	5	4	4	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:66617416G>A	ENST00000393960.1	-	20	3171	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	PC_ENST00000529047.1_Missense_Mutation_p.R84C|PC_ENST00000393955.2_Missense_Mutation_p.R964C|PC_ENST00000393958.2_Missense_Mutation_p.R964C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	964					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACCTTAGAGCGAAAGGGTTCG	0.627													10	31					0	0	0	0	A	66617416	G	A	66617416	3	1	409	1	0	0	0	0	1	0	0	0	11568	1058	37	1	662	1	PC	11	66617416	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	11076064	66617416	68389100	104	81966											
OR2AT4	341152	broad.mit.edu	37	chr11	74800175	74800175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtctggggggtggtgtcaGagcaggaggcctggaccaca	7	6	20	8	0	2	1	1	0	1	1	2	3	2	3	2	8	1	1	2	8	0	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:74800175G>C	ENST00000305159.3	-	1	624	c.584C>G	c.(583-585)tCt>tGt	p.S195C		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGTGGTGTCAGAGCAGGAGGC	0.567													3	34					0	0	0	0	C	74800175	G	C	74800175	3	2	409	1	0	0	0	0	1	0	0	0	11058	942	33	2	381	2	OR2AT4	11	74800175	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	8182759	74800175	60206341	105	81967											
CUL5	8065	broad.mit.edu	37	chr11	107925516	107925516	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgtacagaattatatgaaAtatgtaagttagaacttagt	16	14	9	2	0	0	3	0	1	0	2	0	3	0	3	0	1	2	3	0	1	10	7			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:107925516A>T	ENST00000393094.2	+	6	1312	c.696A>T	c.(694-696)aaA>aaT	p.K232N		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	232					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTATATGAAATATGTAAGTT	0.323													15	25					0	0	0	0	T	107925516	A	T	107925516	3	4	409	1	0	0	0	0	1	0	0	0	4091	98	4	5	718	5	CUL5	11	107925516	Missense_Mutation	SNP	A	TCGA-H7-7774-01A-21D-2078-08	33125341	107925516	27081000	106	81968											
OR10S1	219873	broad.mit.edu	37	chr11	123848324	123848324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcaaaccctccaggaaGaagtggctcaccacagtctg	12	7	8	14	0	3	1	2	0	1	1	4	2	4	2	4	2	2	1	4	2	4	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:123848324G>A	ENST00000531945.1	-	1	164	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTCCAGGAAGAAGTGGCTCA	0.502													6	77					0	0	0	0	A	123848324	G	A	123848324	2	1	409	1	0	0	0	0	0	0	0	1	10989	933	33	2		2	OR10S1	11	123848324	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	15922808	123848324	11158192	107	81969											
NFRKB	4798	broad.mit.edu	37	chr11	129746654	129746654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtaggcaggccggtcggagCgcagcagggagtgctcccga	7	4	18	12	5	0	0	0	0	0	0	2	3	1	2	2	5	3	5	2	5	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:129746654C>T	ENST00000446488.3	-	16	1812	c.1709G>A	c.(1708-1710)cGc>cAc	p.R570H	NFRKB_ENST00000524746.1_Missense_Mutation_p.R570H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R570H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R595H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	570					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCGGTCGGAGCGCAGCAGGGA	0.572													8	37					0	0	0	0	T	129746654	C	T	129746654	3	4	409	1	0	0	0	0	1	0	0	0	10454	768	27	1	2234	1	NFRKB	11	129746654	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	5898330	129746654	5259862	108	81970											
COPS7A	50813	broad.mit.edu	37	chr12	6839587	6839587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtgggctgtgaggtcGtgctgtcaggcattgaggag	5	11	20	5	1	1	2	1	2	0	0	2	3	1	3	0	5	1	3	0	5	0	1	rs144125600		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:6839587G>A	ENST00000543155.1	+	6	1032	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	COPS7A_ENST00000229251.3_Missense_Mutation_p.V184M|COPS7A_ENST00000534877.1_Missense_Mutation_p.V184M|COPS7A_ENST00000534947.1_Missense_Mutation_p.V184M|COPS7A_ENST00000538410.1_Missense_Mutation_p.V184M|COPS7A_ENST00000539735.1_Missense_Mutation_p.V184M|COPS7A_ENST00000542150.1_3'UTR	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	184					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						CTGTGAGGTCGTGCTGTCAGG	0.567													4	73					0	0	0	0	A	6839587	G	A	6839587	3	1	409	1	0	0	0	0	1	0	0	0	3768	1145	40	1	568	1	COPS7A	12	6839587	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08		6839587	127012308	109	81971											
ITPR2	3709	broad.mit.edu	37	chr12	26493141	26493141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacccgacagctgtttgaCcagactcatggtcgattcca	9	10	9	13	2	1	3	1	2	0	1	3	5	2	3	3	1	1	2	3	1	0	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:26493141C>T	ENST00000381340.3	-	56	8394	c.7978G>A	c.(7978-7980)Gtc>Atc	p.V2660I	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2660					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCTGTTTGACCAGACTCATG	0.547													18	35					0	0	0	0	T	26493141	C	T	26493141	3	4	409	1	0	0	0	0	1	0	0	0	7974	507	18	4	135	4	ITPR2	12	26493141	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	19653554	26493141	107358754	110	81972											
ITPR2	3709	broad.mit.edu	37	chr12	26572049	26572049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggacatacgccacgtgaTagagaaaggccatatccagg	14	5	11	11	2	0	2	0	1	0	1	1	4	1	3	4	3	1	0	4	3	4	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:26572049T>C	ENST00000381340.3	-	50	7459	c.7043A>G	c.(7042-7044)tAt>tGt	p.Y2348C	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2348					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCCACGTGATAGAGAAAGGC	0.453													19	51					0	0	0	0	C	26572049	T	C	26572049	3	2	409	1	0	0	0	0	1	0	0	0	7974	1406	49	5	1094	5	ITPR2	12	26572049	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08	78908	26572049	107279846	111	81973											
PPFIBP1	8496	broad.mit.edu	37	chr12	27826759	27826759	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagaaagagacatctgatgGggtgggttctgtgttttttg	9	14	15	3	0	2	3	0	1	2	2	2	5	2	3	0	3	0	2	0	3	2	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:27826759G>T	ENST00000318304.8	+	16	1713	c.1431_splice	c.e16+1	p.G477_splice	PPFIBP1_ENST00000537927.1_Splice_Site_p.G324_splice|PPFIBP1_ENST00000542629.1_Splice_Site_p.G446_splice|PPFIBP1_ENST00000228425.6_Splice_Site_p.G460_splice	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	477					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ACATCTGATGGGGTGGGTTCT	0.348													11	41					5.16669e-11	5.63907e-11	1	0	T	27826759	G	T	27826759	5	4	409	1	0	0	0	0	0	0	1	0	12384	1246	43	4	1475	4	PPFIBP1	12	27826759	Splice_Site	SNP	G	TCGA-H7-7774-01A-21D-2078-08	1254710	27826759	106025136	112	81974											
ALG10	84920	broad.mit.edu	37	chr12	34179307	34179307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttcctcaactattctaCtttttttcatttactctctt	7	23	0	11	0	4	0	2	0	2	0	6	0	5	0	1	0	3	0	1	0	4	11			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:34179307C>T	ENST00000266483.2	+	3	1198	c.879C>T	c.(877-879)taC>taT	p.Y293Y	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	293					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTATTCTACTTTTTTTCAT	0.348													43	111					0	0	0	0	T	34179307	C	T	34179307	2	4	409	1	0	0	0	0	0	0	0	1	511	576	20	4		4	ALG10	12	34179307	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	6352548	34179307	99672588	113	81975											
KRT5	3852	broad.mit.edu	37	chr12	52913978	52913979	+	Frame_Shift_Ins	INS	-	-	GG																															ccacccccggaccgggacacINSggaggtgaagctggtgcggg																										TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:52913978_52913979insGG	ENST00000252242.4	-	1	492_493	c.102_103insCC	c.(100-105)tctgtcfs	p.V35fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	35	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACCGGGACACGGAGGTGAAGC	0.663													31	51	---	---	---	---					GG	52913979	-	GG	52913978	7	5	409	1	0	1	1	0	0	0	0	0	8531	536	19	0	1705	0	KRT5	12	52913978	Frame_Shift_Ins	INS	-	TCGA-H7-7774-01A-21D-2078-08	18734671	52913978	80937917	114	81976											
OR6C65	403282	broad.mit.edu	37	chr12	55794794	55794794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttccccccgtgattatggGcctccaactggatttttgtg	5	16	9	11	1	0	1	0	1	0	0	2	2	2	2	5	2	1	0	5	2	2	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:55794794G>A	ENST00000379665.2	+	1	581	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTGATTATGGGCCTCCAACTG	0.433													75	163					0	0	0	0	A	55794794	G	A	55794794	3	1	409	1	0	0	0	0	1	0	0	0	11266	1203	42	4	484	4	OR6C65	12	55794794	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	2880816	55794794	78057101	115	81977											
PDX1	3651	broad.mit.edu	37	chr13	28498614	28498614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggacaagaagcgcGgcggcgggacagctgtcggg	10	2	21	8	5	0	1	0	0	0	1	1	5	0	5	0	7	2	1	0	7	2	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr13:28498614G>A	ENST00000381033.4	+	2	747	c.628G>A	c.(628-630)Ggc>Agc	p.G210S		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	210				GG -> SS (in Ref. 6; AAC05157).	detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAAGAAGCGCGGCGGCGGGAC	0.657													7	16					0	0	0	0	A	28498614	G	A	28498614	3	1	409	1	0	0	0	0	1	0	0	0	11766	1116	39	1	634	1	PDX1	13	28498614	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08		28498614	86671264	116	81978											
DIS3	22894	broad.mit.edu	37	chr13	73349468	73349468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctccacagccacaatatCttcgtgaacagctctgttta	12	11	6	12	1	2	1	0	1	2	0	4	1	3	1	2	0	4	3	2	0	5	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr13:73349468C>G	ENST00000377767.4	-	6	968	c.868G>C	c.(868-870)Gat>Cat	p.D290H	DIS3_ENST00000377780.4_Missense_Mutation_p.D260H|DIS3_ENST00000545453.1_Missense_Mutation_p.D128H	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	290					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GCCACAATATCTTCGTGAACA	0.388										Multiple Myeloma(4;0.011)			18	65					0	0	0	0	G	73349468	C	G	73349468	3	3	409	1	0	0	0	0	1	0	0	0	4572	913	32	2	2072	2	DIS3	13	73349468	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	44850854	73349468	41820410	117	81979											
MYCBP2	23077	broad.mit.edu	37	chr13	77651324	77651324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactcgcagagtctcagcttCacagttcctctgctgggcca	7	11	9	14	1	3	1	2	0	2	1	6	1	4	1	2	1	3	4	2	1	1	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr13:77651324C>T	ENST00000407578.2	-	67	11949	c.11683G>A	c.(11683-11685)Gaa>Aaa	p.E3895K	MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3857K|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3857K|MYCBP2-AS1_ENST00000596342.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCTCAGCTTCACAGTTCCTC	0.433													14	33					0	0	0	0	T	77651324	C	T	77651324	3	4	409	1	0	0	0	0	1	0	0	0	10088	835	29	2	2421	2	MYCBP2	13	77651324	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	4301856	77651324	37518554	118	81980											
SLITRK1	114798	broad.mit.edu	37	chr13	84455029	84455029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcctctagcaggatctccGcaataccagggatttgctcc	9	11	8	13	1	2	0	0	0	2	0	5	2	4	2	4	2	3	3	4	2	4	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr13:84455029G>A	ENST00000377084.2	-	1	1499	c.614C>T	c.(613-615)gCg>gTg	p.A205V		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	205						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGGATCTCCGCAATACCAGG	0.542													22	39					0	0	0	0	A	84455029	G	A	84455029	3	1	409	1	0	0	0	0	1	0	0	0	14830	1087	38	1	1480	1	SLITRK1	13	84455029	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	6803705	84455029	30714849	119	81981											
CHD8	57680	broad.mit.edu	37	chr14	21873943	21873943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgagggaaattgtgaCggttccaagaaatgaagcaa	15	9	12	5	1	1	4	0	3	1	1	2	6	2	5	1	2	1	2	1	2	5	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:21873943C>T	ENST00000399982.2	-	14	3052	c.2988G>A	c.(2986-2988)ccG>ccA	p.P996P	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.P717P|CHD8_ENST00000557364.1_Silent_p.P996P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	996	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAAATTGTGACGGTTCCAAGA	0.418													8	130					0	0	0	0	T	21873943	C	T	21873943	2	4	409	1	0	0	0	0	0	0	0	1	3360	523	19	1		1	CHD8	14	21873943	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08		21873943	85475597	120	81982											
NPAS3	64067	broad.mit.edu	37	chr14	34263139	34263139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtgacaaagtactatcGctggatgcagaagaacggag	13	8	14	6	2	0	3	0	1	0	2	1	5	0	5	0	2	3	3	0	2	5	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:34263139G>A	ENST00000346562.2	+	9	1168	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	NPAS3_ENST00000548645.1_Missense_Mutation_p.R367H|NPAS3_ENST00000357798.5_Missense_Mutation_p.R384H|NPAS3_ENST00000551492.1_Missense_Mutation_p.R402H|NPAS3_ENST00000356141.4_Missense_Mutation_p.R397H	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	397	PAC.|PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGTACTATCGCTGGATGCAG	0.373													10	47					0	0	0	0	A	34263139	G	A	34263139	3	1	409	1	0	0	0	0	1	0	0	0	10634	1087	38	1	1283	1	NPAS3	14	34263139	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	12389196	34263139	73086401	121	81983											
ITPK1	3705	broad.mit.edu	37	chr14	93408122	93408122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaggccgcccgccggctcGgccagaagcttgctgtgcct	5	6	13	17	4	0	1	0	0	0	1	1	1	0	1	6	3	3	3	6	3	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:93408122G>A	ENST00000267615.6	-	11	1202	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000555495.1_Silent_p.A224A|ITPK1_ENST00000556603.2_Silent_p.A343A			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	343					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCGCCGGCTCGGCCAGAAGCT	0.711													4	14					0	0	0	0	A	93408122	G	A	93408122	2	1	409	1	0	0	0	0	0	0	0	1	7969	1103	39	1		1	ITPK1	14	93408122	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	59144983	93408122	13941418	122	81984											
ITPK1	3705	broad.mit.edu	37	chr14	93412800	93412800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagctcccggatgacctcGtcgctcggccgctcgaacac	7	6	12	16	6	0	2	0	1	0	1	5	5	1	3	3	2	2	3	3	2	1	0	rs144084022		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:93412800G>T	ENST00000267615.6	-	10	950	c.777C>A	c.(775-777)gaC>gaA	p.D259E	ITPK1_ENST00000354313.3_Missense_Mutation_p.D259E|ITPK1_ENST00000555495.1_Missense_Mutation_p.D140E|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.D259E			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	259	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.D259E(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GGATGACCTCGTCGCTCGGCC	0.637													5	41					0.000602214	0.000611824	1	0	T	93412800	G	T	93412800	3	4	409	1	0	0	0	0	1	0	0	0	7969	1136	40	3	523	3	ITPK1	14	93412800	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	4678	93412800	13936740	123	81985											
AHNAK2	113146	broad.mit.edu	37	chr14	105409647	105409647	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgggcaggtgccctttGaggctggctccctcgggcac	4	9	14	14	1	0	1	0	1	0	0	2	1	1	1	3	5	1	4	3	5	0	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:105409647G>C	ENST00000333244.5	-	7	12260	c.12141C>G	c.(12139-12141)ctC>ctG	p.L4047L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4047						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTGCCCTTTGAGGCTGGCTC	0.627													9	200					0	0	0	0	C	105409647	G	C	105409647	2	2	409	1	0	0	0	0	0	0	0	1	415	1277	45	2		2	AHNAK2	14	105409647	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	11996847	105409647	1939893	124	81986											
RYR3	6263	broad.mit.edu	37	chr15	33962690	33962690	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaactctgtgccttggtTtacaaaatcaaaggcccacc	13	9	8	11	0	2	0	1	0	1	0	2	1	2	1	3	3	3	1	3	3	6	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:33962690T>G	ENST00000389232.4	+	38	5863	c.5793T>G	c.(5791-5793)gtT>gtG	p.V1931V	RYR3_ENST00000415757.3_Silent_p.V1931V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1931	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGCCTTGGTTTACAAAATCA	0.522													10	35					0	0	0	0	G	33962690	T	G	33962690	2	3	409	1	0	0	0	0	0	0	0	1	13855	1828	64	5		5	RYR3	15	33962690	Silent	SNP	T	TCGA-H7-7774-01A-21D-2078-08		33962690	68568702	125	81987											
MAP1A	4130	broad.mit.edu	37	chr15	43815140	43815140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaatagacaggagccGtgctatccgtggggagaagg	13	6	15	7	2	1	2	1	0	0	2	2	4	2	3	2	4	2	1	2	4	5	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:43815140G>A	ENST00000382031.1	+	5	2214	c.2183G>A	c.(2182-2184)cGt>cAt	p.R728H	MAP1A_ENST00000300231.5_Missense_Mutation_p.R490H|MAP1A_ENST00000399453.1_Missense_Mutation_p.R490H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	490						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAGGAGCCGTGCTATCCGT	0.542													10	12					0	0	0	0	A	43815140	G	A	43815140	3	1	409	1	0	0	0	0	1	0	0	0	9296	1145	40	1	1471	1	MAP1A	15	43815140	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	9852450	43815140	58716252	126	81988											
USP8	9101	broad.mit.edu	37	chr15	50763974	50763974	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacaactctccggagtctGaaagatgcacttttcaaggt	12	10	10	9	1	3	2	1	1	2	1	4	4	3	4	1	3	3	1	1	3	4	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:50763974G>C	ENST00000433963.1	+	9	1331	c.831G>C	c.(829-831)ctG>ctC	p.L277L	USP8_ENST00000396444.3_Silent_p.L277L|USP8_ENST00000425032.3_Silent_p.L200L|USP8_ENST00000307179.4_Silent_p.L277L	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	277	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCCGGAGTCTGAAAGATGCAC	0.393													4	103					0	0	0	0	C	50763974	G	C	50763974	2	2	409	1	0	0	0	0	0	0	0	1	17185	1277	45	2		2	USP8	15	50763974	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	6948834	50763974	51767418	127	81989											
PRTG	283659	broad.mit.edu	37	chr15	55931991	55931991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcgcatagagatggtgggGtggtggtggaggagggacca	8	8	20	5	1	0	1	0	0	0	1	1	5	0	4	1	8	0	1	1	8	1	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:55931991G>A	ENST00000389286.4	-	13	2220	c.2173C>T	c.(2173-2175)Ccc>Tcc	p.P725S		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	725	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGATGGTGGGGTGGTGGTGGA	0.448													6	63					0	0	0	0	A	55931991	G	A	55931991	3	1	409	1	0	0	0	0	1	0	0	0	12717	1261	44	4	1311	4	PRTG	15	55931991	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	5168017	55931991	46599401	128	81990											
DPP8	54878	broad.mit.edu	37	chr15	65793046	65793046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatcgtaagaagcaattccGactgttccaatgcgttttct	11	14	7	9	3	1	1	0	0	1	1	4	2	3	1	2	0	2	4	2	0	5	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:65793046G>A	ENST00000341861.5	-	4	2072	c.492C>T	c.(490-492)gtC>gtT	p.V164V	DPP8_ENST00000559233.1_Silent_p.V164V|DPP8_ENST00000358939.4_Silent_p.V148V|DPP8_ENST00000339244.5_Silent_p.V164V|DPP8_ENST00000321118.7_Silent_p.V164V|DPP8_ENST00000321147.6_Silent_p.V164V|DPP8_ENST00000300141.6_Silent_p.V148V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	164					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGCAATTCCGACTGTTCCAA	0.398													40	82					0	0	0	0	A	65793046	G	A	65793046	2	1	409	1	0	0	0	0	0	0	0	1	4768	1045	37	1		1	DPP8	15	65793046	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	9861055	65793046	36738346	129	81991											
MYO9A	4649	broad.mit.edu	37	chr15	72119040	72119040	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggtctctttggttttctGaggtgagtttttcacattct	4	20	11	6	0	4	2	1	2	3	0	5	2	4	2	0	4	0	2	0	4	0	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:72119040G>A	ENST00000356056.5	-	42	8000	c.7528C>T	c.(7528-7530)Cag>Tag	p.Q2510*	MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q2491*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q2581*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2510	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGGTTTTCTGAGGTGAGTTT	0.478													36	87					0	0	0	0	A	72119040	G	A	72119040	4	1	409	1	0	0	0	0	0	1	0	0	10154	1299	45	2	122	2	MYO9A	15	72119040	Nonsense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	6325994	72119040	30412352	130	81992											
ADPGK	83440	broad.mit.edu	37	chr15	73048712	73048712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaacacctccagcatattCatggccccgttggagaggtc	11	8	9	13	1	1	1	1	0	0	1	3	2	2	1	4	3	2	2	4	3	2	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:73048712C>T	ENST00000311669.8	-	5	813	c.720G>A	c.(718-720)atG>atA	p.M240I	ADPGK_ENST00000567733.1_Intron	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	240	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CCAGCATATTCATGGCCCCGT	0.537													5	63					0	0	0	0	T	73048712	C	T	73048712	3	4	409	1	0	0	0	0	1	0	0	0	330	826	29	2	782	2	ADPGK	15	73048712	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	929672	73048712	29482680	131	81993											
RLBP1	6017	broad.mit.edu	37	chr15	89754989	89754989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctggagcatgtccacCatcttcctgagatctgaagt	9	11	8	13	0	3	2	1	2	2	1	5	4	5	3	4	1	1	1	4	1	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:89754989C>T	ENST00000268125.5	-	7	1108	c.669G>A	c.(667-669)atG>atA	p.M223I		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	223	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GCATGTCCACCATCTTCCTGA	0.547													3	40					0	0	0	0	T	89754989	C	T	89754989	3	4	409	1	0	0	0	0	1	0	0	0	13473	594	21	4	296	4	RLBP1	15	89754989	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	16706277	89754989	12776403	132	81994											
VPS33B	26276	broad.mit.edu	37	chr15	91542965	91542965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaatgtacaaccacccaaGaacaccaccaagatgaggcg	17	3	9	12	1	0	4	0	1	0	3	0	5	0	4	4	1	3	1	4	1	6	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:91542965G>C	ENST00000333371.3	-	22	2069	c.1716C>G	c.(1714-1716)ttC>ttG	p.F572L	VPS33B_ENST00000535906.1_Missense_Mutation_p.F545L|VPS33B_ENST00000535843.1_Missense_Mutation_p.F481L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	572					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AACCACCCAAGAACACCACCA	0.507													8	216					0	0	0	0	C	91542965	G	C	91542965	3	2	409	1	0	0	0	0	1	0	0	0	17298	933	33	2	145	2	VPS33B	15	91542965	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	1787976	91542965	10988427	133	81995											
IFT140	9742	broad.mit.edu	37	chr16	1614075	1614075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcgtctcctgcacggcttCgcatacaaacagccggggct	7	7	12	15	5	1	0	0	0	1	0	3	0	1	0	2	4	4	4	2	4	2	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:1614075C>T	ENST00000426508.2	-	17	2353	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	664										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCACGGCTTCGCATACAAAC	0.577													5	53					0	0	0	0	T	1614075	C	T	1614075	3	4	409	1	0	0	0	0	1	0	0	0	7609	893	31	1	2458	1	IFT140	16	1614075	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08		1614075	88740678	134	81996											
CREBBP	1387	broad.mit.edu	37	chr16	3820572	3820572	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagacagagaggcttaccGgtgtgccaggaggctgggcg	9	5	18	9	2	0	2	0	0	0	2	0	5	0	3	2	5	2	2	2	5	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:3820572G>C	ENST00000262367.5	-	14	3688	c.2880_splice	c.e14+1	p.P960_splice	CREBBP_ENST00000382070.3_Splice_Site_p.P922_splice	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	960					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGGCTTACCGGTGTGCCAGG	0.572			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						54	221					0	0	0	0	C	3820572	G	C	3820572	5	2	409	1	0	0	0	0	0	0	1	0	3891	1130	39	3	4521	3	CREBBP	16	3820572	Splice_Site	SNP	G	TCGA-H7-7774-01A-21D-2078-08	2206497	3820572	86534181	135	81997											
ACSM2B	348158	broad.mit.edu	37	chr16	20565237	20565237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgatgagtggtggatGcctcactgacaaagacacag	13	7	12	9	0	1	4	1	3	0	1	1	5	1	5	1	2	1	0	1	2	1	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:20565237G>A	ENST00000329697.6	-	5	770	c.602C>T	c.(601-603)gCa>gTa	p.A201V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A201V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A201V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A122V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	201					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTGGTGGATGCCTCACTGAC	0.493													14	44					0	0	0	0	A	20565237	G	A	20565237	3	1	409	1	0	0	0	0	1	0	0	0	184	1319	46	4	1171	4	ACSM2B	16	20565237	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	16744665	20565237	69789516	136	81998											
FHOD1	29109	broad.mit.edu	37	chr16	67263809	67263809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcatctgatgtatcactgGgtaaactggagcctgggggt	8	12	13	8	0	3	1	2	1	2	0	4	2	3	2	1	4	2	2	1	4	3	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:67263809G>T	ENST00000258201.4	-	21	3546	c.3299C>A	c.(3298-3300)cCc>cAc	p.P1100H	FHOD1_ENST00000567687.1_Missense_Mutation_p.P679H	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1100					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGTATCACTGGGTAAACTGGA	0.587													20	50					7.45023e-12	8.3216e-12	1	0	T	67263809	G	T	67263809	3	4	409	1	0	0	0	0	1	0	0	0	5927	1232	43	4	203	4	FHOD1	16	67263809	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	46698572	67263809	23090944	137	81999											
CTCF	10664	broad.mit.edu	37	chr16	67663349	67663361	+	Frame_Shift_Del	DEL	GAGGGGGAAAATG	GAGGGGGAAAATG	-																															gtgctggcccagatggcgtaGagggggaaaatggaggagaa																										TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:67663349_67663361delGAGGGGGAAAATG	ENST00000264010.4	+	10	2194_2206	c.1750_1762delGAGGGGGAAAATG	c.(1750-1764)gafs	p.EGENG584fs	CTCF_ENST00000401394.1_Frame_Shift_Del_p.EGENG256fs	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	584					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGATGGCGTAGAGGGGGAAAATGGAGGAGAAAC	0.413													12	53	---	---	---	---					-	67663361	GAGGGGGAAAATG	-	67663349	7	5	409	1	0	1	0	1	0	0	0	0	4032	943	33	0	1780	0	CTCF	16	67663349	Frame_Shift_Del	DEL	GAGGGGGAAAATG	TCGA-H7-7774-01A-21D-2078-08	399540	67663349	22691404	138	82000											
PRMT7	54496	broad.mit.edu	37	chr16	68390961	68390961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcttcttcctacagggggGctgctgctggaacccccact	5	10	11	15	0	2	0	0	0	2	0	3	1	3	1	3	4	4	4	3	4	2	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:68390961G>A	ENST00000339507.5	+	19	2743	c.1913G>A	c.(1912-1914)gGc>gAc	p.G638D	PRMT7_ENST00000441236.1_Missense_Mutation_p.G588D|PRMT7_ENST00000348497.4_Missense_Mutation_p.G490D|PRMT7_ENST00000449359.3_Missense_Mutation_p.G588D			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	638					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTACAGGGGGGCTGCTGCTGG	0.632													4	28					0	0	0	0	A	68390961	G	A	68390961	3	1	409	1	0	0	0	0	1	0	0	0	12621	1203	42	4	1979	4	PRMT7	16	68390961	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	727612	68390961	21963792	139	82001											
TUSC5	286753	broad.mit.edu	37	chr17	1183494	1183494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacccttcaaggccatctccGaggggcacctggaggcccca	8	6	11	16	1	2	0	1	0	1	0	3	2	2	1	6	5	1	1	6	5	2	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:1183494G>A	ENST00000333813.3	+	1	538	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	67					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCATCTCCGAGGGGCACCT	0.632													17	54					0	0	0	0	A	1183494	G	A	1183494	3	1	409	1	0	0	0	0	1	0	0	0	16875	1059	37	1	201	1	TUSC5	17	1183494	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08		1183494	80011716	140	82002											
MYO1C	4641	broad.mit.edu	37	chr17	1387576	1387576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcactctccatggtcacccGaaccccgtcactgcccaggg	7	6	9	19	3	3	0	2	0	1	0	4	1	3	0	5	2	2	1	5	2	1	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:1387576G>A	ENST00000359786.5	-	2	421	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	MYO1C_ENST00000438665.2_Missense_Mutation_p.R14W|MYO1C_ENST00000361007.2_5'UTR|MYO1C_ENST00000545534.2_Missense_Mutation_p.R9W|MYO1C_ENST00000575158.1_5'UTR	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	33					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATGGTCACCCGAACCCCGTCA	0.652													6	24					0	0	0	0	A	1387576	G	A	1387576	3	1	409	1	0	0	0	0	1	0	0	0	10140	1057	37	1	3218	1	MYO1C	17	1387576	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	204082	1387576	79807634	141	82003											
WSCD1	23302	broad.mit.edu	37	chr17	5998441	5998441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggaccgccacctaccgCggatgcttccgactgccaga	7	5	13	16	5	0	1	0	0	0	1	1	4	1	3	6	3	3	1	6	3	1	2	rs148922288		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:5998441C>T	ENST00000574946.1	+	5	1137	c.747C>T	c.(745-747)cgC>cgT	p.R249R	WSCD1_ENST00000317744.5_Silent_p.R249R|WSCD1_ENST00000539421.1_Silent_p.R249R|WSCD1_ENST00000573634.1_Silent_p.R133R|WSCD1_ENST00000574232.1_Silent_p.R249R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	249	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CCACCTACCGCGGATGCTTCC	0.572													18	82					0	0	0	0	T	5998441	C	T	5998441	2	4	409	1	0	0	0	0	0	0	0	1	17502	755	27	1		1	WSCD1	17	5998441	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	4610865	5998441	75196769	142	82004											
GPS2	2874	broad.mit.edu	37	chr17	7216126	7216127	+	Frame_Shift_Ins	INS	-	-	GG																															gttggatgaaggggagccgaINSgggccaggttggctggtagc																										TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:7216126_7216127insGG	ENST00000380728.2	-	11	1232_1233	c.932_933insCC	c.(931-933)ccgfs	p.P311fs	GPS2_ENST00000391950.3_Intron|GPS2_ENST00000389167.5_Frame_Shift_Ins_p.P311fs|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	311					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AGGGGAGCCGAGGGCCAGGTTG	0.545													27	137	---	---	---	---					GG	7216127	-	GG	7216126	7	5	409	1	0	1	1	0	0	0	0	0	6783	291	11	0	54	0	GPS2	17	7216126	Frame_Shift_Ins	INS	-	TCGA-H7-7774-01A-21D-2078-08	1217685	7216126	73979084	143	82005											
SPAG5	10615	broad.mit.edu	37	chr17	26913009	26913009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaccaatgtttctgcaCgccgagactatatggtaaga	14	9	9	9	2	1	3	0	0	1	3	1	4	1	3	2	1	2	3	2	1	5	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:26913009C>T	ENST00000321765.5	-	7	1945	c.1613G>A	c.(1612-1614)cGt>cAt	p.R538H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	538					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGTTTCTGCACGCCGAGACTA	0.483													46	143					0	0	0	0	T	26913009	C	T	26913009	3	4	409	1	0	0	0	0	1	0	0	0	15071	536	19	1	2040	1	SPAG5	17	26913009	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	19696883	26913009	54282201	144	82006											
MED24	9862	broad.mit.edu	37	chr17	38175892	38175892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctgacaccttcaccagttCcgacacctgccacggacaga	10	6	9	16	2	1	2	1	1	0	1	2	4	2	3	5	2	1	2	5	2	0	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:38175892C>T	ENST00000394126.1	-	25	3353	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	MED24_ENST00000356271.3_Missense_Mutation_p.E941K|MED24_ENST00000394128.2_Missense_Mutation_p.E954K|MED24_ENST00000501516.3_Missense_Mutation_p.E973K|MED24_ENST00000394127.2_Missense_Mutation_p.E941K			O75448	MED24_HUMAN	mediator complex subunit 24	954					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TTCACCAGTTCCGACACCTGC	0.657													20	42					0	0	0	0	T	38175892	C	T	38175892	3	4	409	1	0	0	0	0	1	0	0	0	9511	864	30	2	113	2	MED24	17	38175892	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	11262883	38175892	43019318	145	82007											
ANKRD12	23253	broad.mit.edu	37	chr18	9257777	9257777	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactttcagatgctgaatcGatttctaaacatatgtcttt	11	17	5	8	1	4	2	2	1	2	1	5	3	4	2	0	0	2	1	0	0	4	5	rs74916798		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr18:9257777G>T	ENST00000383440.2	+	8	4700	c.4443G>T	c.(4441-4443)tcG>tcT	p.S1481S	ANKRD12_ENST00000400020.3_Silent_p.S1481S|ANKRD12_ENST00000262126.3_Silent_p.S1504S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1504						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGCTGAATCGATTTCTAAAC	0.413													11	35					7.03913e-09	7.63905e-09	1	0	T	9257777	G	T	9257777	2	4	409	1	0	0	0	0	0	0	0	1	640	1045	37	3		3	ANKRD12	18	9257777	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08		9257777	68819471	146	82008											
KCTD1	284252	broad.mit.edu	37	chr18	24039710	24039710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggaaatacttcttctatCaaggatttgtcaccgcttag	10	15	7	9	1	5	0	2	0	3	0	5	2	5	2	1	2	1	1	1	2	5	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr18:24039710C>G	ENST00000417602.1	-	4	2312	c.2313G>C	c.(2311-2313)ttG>ttC	p.L771F	KCTD1_ENST00000317932.7_Missense_Mutation_p.L163F|KCTD1_ENST00000580059.1_Missense_Mutation_p.L163F|KCTD1_ENST00000408011.3_Missense_Mutation_p.L163F|KCTD1_ENST00000579973.1_Missense_Mutation_p.L163F	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	163					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTTCTTCTATCAAGGATTTGT	0.512													4	63					0	0	0	0	G	24039710	C	G	24039710	3	3	409	1	0	0	0	0	1	0	0	0	8149	825	29	2	292	2	KCTD1	18	24039710	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	14781933	24039710	54037538	147	82009											
S1PR4	8698	broad.mit.edu	37	chr19	3179595	3179595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctggggcccactcttcGggctgctgctggccgacgtc	2	10	15	14	3	1	0	0	0	1	0	3	1	1	0	2	4	3	4	2	4	0	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:3179595G>A	ENST00000246115.3	+	1	860	c.805G>A	c.(805-807)Ggg>Agg	p.G269R		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	269					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCACTCTTCGGGCTGCTGCT	0.697													31	56					0	0	0	0	A	3179595	G	A	3179595	3	1	409	1	0	0	0	0	1	0	0	0	13881	1116	39	1	807	1	S1PR4	19	3179595	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08		3179595	55949388	148	82010											
ZNF763	284390	broad.mit.edu	37	chr19	12089308	12089308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattcaggcattcgaagacGcatggtaatgcacagtgggg	11	8	13	9	2	1	1	1	0	0	1	2	2	1	1	1	4	1	4	1	4	2	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:12089308G>A	ENST00000343949.5	+	4	733	c.578G>A	c.(577-579)cGc>cAc	p.R193H	ZNF763_ENST00000538752.1_Missense_Mutation_p.R210H|ZNF763_ENST00000358987.3_Missense_Mutation_p.R190H|ZNF763_ENST00000590798.1_Missense_Mutation_p.R210H|ZNF763_ENST00000545530.1_Missense_Mutation_p.R68H	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATTCGAAGACGCATGGTAATG	0.408													40	94					0	0	0	0	A	12089308	G	A	12089308	3	1	409	1	0	0	0	0	1	0	0	0	18231	1087	38	1	592	1	ZNF763	19	12089308	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	8909713	12089308	47039675	149	82011											
UNC13A	23025	broad.mit.edu	37	chr19	17768990	17768990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggcgttgggttgtgaCgtagtataatagggcggcgg	8	10	18	5	4	0	2	0	2	0	0	0	2	0	2	0	5	0	4	0	5	4	6			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:17768990C>T	ENST00000428389.2	-	10	911	c.912G>A	c.(910-912)acG>acA	p.T304T	UNC13A_ENST00000550896.1_Silent_p.T216T|UNC13A_ENST00000252773.7_Silent_p.T216T|UNC13A_ENST00000552293.1_Silent_p.T216T|UNC13A_ENST00000519716.2_Silent_p.T216T|UNC13A_ENST00000551649.1_Silent_p.T216T			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	216					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGGTTGTGACGTAGTATAAT	0.557													3	31					0	0	0	0	T	17768990	C	T	17768990	2	4	409	1	0	0	0	0	0	0	0	1	17080	523	19	1		1	UNC13A	19	17768990	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	5679682	17768990	41359993	150	82012											
SLC7A10	56301	broad.mit.edu	37	chr19	33702376	33702376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggccgtgaagtaggCaatgttggtgaacgtgtaca	11	9	15	6	2	0	2	0	2	0	0	0	3	0	3	1	4	2	4	1	4	5	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:33702376C>A	ENST00000253188.3	-	6	1002	c.856G>T	c.(856-858)Gcc>Tcc	p.A286S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	286					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GTGAAGTAGGCAATGTTGGTG	0.627													5	20					0.000602214	0.000611824	1	0	A	33702376	C	A	33702376	3	1	409	1	0	0	0	0	1	0	0	0	14781	710	25	4	739	4	SLC7A10	19	33702376	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	15933386	33702376	25426607	151	82013											
ZBTB32	27033	broad.mit.edu	37	chr19	36206144	36206148	+	Frame_Shift_Del	DEL	GATGG	GATGG	-																															ctgttggccaaaggggagcaGatgggaagcatggagtgctc																										TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:36206144_36206148delGATGG	ENST00000392197.2	+	3	934_938	c.616_620delGATGG	c.(616-621)gfs	p.DG206fs	ZBTB32_ENST00000262630.3_Frame_Shift_Del_p.DG206fs			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	206					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGGGGAGCAGATGGGAAGCATGGA	0.615													9	41	---	---	---	---					-	36206148	GATGG	-	36206144	7	5	409	1	0	1	0	1	0	0	0	0	17630	942	33	0	618	0	ZBTB32	19	36206144	Frame_Shift_Del	DEL	GATGG	TCGA-H7-7774-01A-21D-2078-08	2503768	36206144	22922839	152	82014											
HKR1	284459	broad.mit.edu	37	chr19	37854366	37854366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaagccttttatgtgcaggGagtgtggcagaaggtttcgg	10	11	15	5	1	0	1	0	0	0	1	1	2	0	2	1	4	2	3	1	4	4	3			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:37854366G>A	ENST00000591471.1	+	9	2491	c.850G>A	c.(850-852)Gag>Aag	p.E284K	HKR1_ENST00000541583.2_Missense_Mutation_p.E496K|HKR1_ENST00000589392.1_Missense_Mutation_p.E539K|HKR1_ENST00000392153.3_Missense_Mutation_p.E538K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Missense_Mutation_p.E557K|HKR1_ENST00000544914.1_Missense_Mutation_p.E284K			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTGCAGGGAGTGTGGCAG	0.512													9	25					0	0	0	0	A	37854366	G	A	37854366	3	1	409	1	0	0	0	0	1	0	0	0	7244	1175	41	2	1683	2	HKR1	19	37854366	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	1648222	37854366	21274617	153	82015											
ZNF419	79744	broad.mit.edu	37	chr19	58004287	58004287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgtaggactgctcaGttcaaacattcagcaacacc	11	11	7	12	0	4	0	3	0	1	0	4	1	4	1	1	1	5	5	1	1	3	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:58004287G>A	ENST00000424930.2	+	5	594	c.365G>A	c.(364-366)aGt>aAt	p.S122N	ZNF419_ENST00000415379.2_Missense_Mutation_p.S75N|ZNF419_ENST00000442920.2_Missense_Mutation_p.S108N|ZNF419_ENST00000426954.2_Missense_Mutation_p.S109N|ZNF419_ENST00000347466.6_Missense_Mutation_p.S89N|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.S109N|ZNF419_ENST00000221735.7_Missense_Mutation_p.S121N	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GGACTGCTCAGTTCAAACATT	0.473													6	27					0	0	0	0	A	58004287	G	A	58004287	3	1	409	1	0	0	0	0	1	0	0	0	17991	1029	36	4	383	4	ZNF419	19	58004287	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	20149921	58004287	1124696	154	82016											
SLC5A4	6527	broad.mit.edu	37	chr22	32625325	32625325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaccgaaagcatcaggcctCgcagtcctggagccgggaaa	11	5	13	12	3	1	1	1	1	0	0	3	4	2	3	4	3	2	2	4	3	2	0	rs142416109		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr22:32625325C>T	ENST00000266086.4	-	11	1147	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	379					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCAGGCCTCGCAGTCCTGG	0.537													5	36					0	0	0	0	T	32625325	C	T	32625325	3	4	409	1	0	0	0	0	1	0	0	0	14755	884	31	1	863	1	SLC5A4	22	32625325	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08		32625325	18679241	155	82017											
APOL2	23780	broad.mit.edu	37	chr22	36623928	36623928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtccaagttgcgggcttggGctcgtgcccgcaatttgttt	4	13	14	10	3	0	0	0	0	0	0	2	0	1	0	2	3	2	5	2	3	2	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr22:36623928G>A	ENST00000249066.6	-	6	1012	c.536C>T	c.(535-537)gCc>gTc	p.A179V	APOL2_ENST00000358502.5_Missense_Mutation_p.A179V|APOL2_ENST00000451256.2_Missense_Mutation_p.A291V	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	179					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCGGGCTTGGGCTCGTGCCCG	0.517													16	37					0	0	0	0	A	36623928	G	A	36623928	3	1	409	1	0	0	0	0	1	0	0	0	808	1203	42	4	481	4	APOL2	22	36623928	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	3998603	36623928	14680638	156	82018											
EP300	2033	broad.mit.edu	37	chr22	41564866	41564866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgactgccctccacccaaCcagaggtatgactagctcac	10	8	7	16	0	2	3	1	2	1	1	3	3	3	3	4	1	3	2	4	1	3	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr22:41564866C>G	ENST00000263253.7	+	25	5386	c.4167C>G	c.(4165-4167)aaC>aaG	p.N1389K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1389					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCCACCCAACCAGAGGTATG	0.458			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				5	80					0	0	0	0	G	41564866	C	G	41564866	3	3	409	1	0	0	0	0	1	0	0	0	5186	506	18	4	4265	4	EP300	22	41564866	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	4940938	41564866	9739700	157	82019											
MAGEB3	4114	broad.mit.edu	37	chrX	30254629	30254629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggacagtgactcgtgggagGggatttcccaagacaggtct	9	8	16	8	1	1	2	0	1	1	1	3	5	2	5	1	5	0	0	1	5	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:30254629G>T	ENST00000361644.2	+	5	1325	c.588G>T	c.(586-588)agG>agT	p.R196S	MAGEB3_ENST00000378986.1_Missense_Mutation_p.R196S	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	196	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTCGTGGGAGGGGATTTCCCA	0.468													12	35					6.40141e-05	6.68125e-05	1	0	T	30254629	G	T	30254629	3	4	409	1	0	0	0	0	1	0	0	0	9246	1223	43	4	590	4	MAGEB3	23	30254629	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08		30254629	125015931	158	82020											
FAM47A	158724	broad.mit.edu	37	chrX	34149053	34149053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccttagttttcttcaccCgggcctcacaacgatcccat	7	13	6	15	2	3	0	2	0	1	0	5	1	5	0	4	1	1	2	4	1	2	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:34149053C>T	ENST00000346193.3	-	1	1394	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	448										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTCTTCACCCGGGCCTCACA	0.562													7	59					0	0	0	0	T	34149053	C	T	34149053	3	4	409	1	0	0	0	0	1	0	0	0	5616	652	23	1	1036	1	FAM47A	23	34149053	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	3894424	34149053	121121507	159	82021											
USP9X	8239	broad.mit.edu	37	chrX	41075168	41075168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggttgataccgtaaagcGcttgctgattaaaaaattac	14	13	8	6	2	0	2	0	2	0	0	0	2	0	2	1	1	4	4	1	1	8	7			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:41075168G>A	ENST00000324545.7	+	35	5981	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1783H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1783					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCGTAAAGCGCTTGCTGATT	0.318													4	46					0	0	0	0	A	41075168	G	A	41075168	3	1	409	1	0	0	0	0	1	0	0	0	17186	1087	38	1	5482	1	USP9X	23	41075168	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	6926115	41075168	114195392	160	82022											
SSX5	6758	broad.mit.edu	37	chrX	48054486	48054486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagagctttaatgctgctgGctggctctcttcccaccttc	5	14	9	13	0	1	1	0	0	1	1	4	1	2	1	2	2	3	6	2	2	2	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:48054486G>A	ENST00000311798.1	-	3	201	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						AATGCTGCTGGCTGGCTCTCT	0.522													23	41					0	0	0	0	A	48054486	G	A	48054486	3	1	409	1	0	0	0	0	1	0	0	0	15298	1203	42	4	564	4	SSX5	23	48054486	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	6979318	48054486	107216074	161	82023											
PPP1R3F	89801	broad.mit.edu	37	chrX	49127007	49127007	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccggggctcggcctgggTcccggccaggcatccgcctc	3	6	15	17	4	0	0	0	0	0	0	5	1	3	0	6	6	0	2	6	6	0	0			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:49127007T>A	ENST00000055335.6	+	1	691	c.675T>A	c.(673-675)ggT>ggA	p.G225G	PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000438316.1_Intron|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	225	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCGGCCTGGGTCCCGGCCAGG	0.751													7	13					0	0	0	0	A	49127007	T	A	49127007	2	1	409	1	0	0	0	0	0	0	0	1	12451	1654	58	5		5	PPP1R3F	23	49127007	Silent	SNP	T	TCGA-H7-7774-01A-21D-2078-08	1072521	49127007	106143553	162	82024											
IQSEC2	23096	broad.mit.edu	37	chrX	53279948	53279948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggtcactcaggtccaCggagctgtcactaggaggct	8	8	14	11	2	3	1	3	1	0	0	4	3	4	3	1	5	2	2	1	5	1	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:53279948C>T	ENST00000396435.3	-	5	2010	c.1810G>A	c.(1810-1812)Gtg>Atg	p.V604M	IQSEC2_ENST00000375368.5_Missense_Mutation_p.V594M|IQSEC2_ENST00000375365.2_Missense_Mutation_p.V399M	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	594	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTCAGGTCCACGGAGCTGTCA	0.657													7	11					0	0	0	0	T	53279948	C	T	53279948	3	4	409	1	0	0	0	0	1	0	0	0	7871	536	19	1	2700	1	IQSEC2	23	53279948	Missense_Mutation	SNP	C	TCGA-H7-7774-01A-21D-2078-08	4152941	53279948	101990612	163	82025											
HUWE1	10075	broad.mit.edu	37	chrX	53577938	53577938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatgcatgagctgtcgctgCcgggcttcttgctctcgtct	3	14	11	13	3	4	1	1	1	3	0	6	1	4	1	1	1	4	5	1	1	0	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:53577938C>A	ENST00000342160.3	-	64	9766	c.9309G>T	c.(9307-9309)cgG>cgT	p.R3103R	HUWE1_ENST00000262854.6_Silent_p.R3103R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3103					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTGTCGCTGCCGGGCTTCTT	0.582													12	41					1.08611e-07	1.16543e-07	1	0	A	53577938	C	A	53577938	2	1	409	1	0	0	0	0	0	0	0	1	7514	726	26	4		4	HUWE1	23	53577938	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	297990	53577938	101692622	164	82026											
ARL13A	392509	broad.mit.edu	37	chrX	100240718	100240718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacacttttgttagatgagTatgaactttccatctatgac	11	16	6	8	0	1	4	0	3	1	1	2	4	2	4	1	0	2	2	1	0	5	7			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:100240718T>C	ENST00000450049.2	+	4	306	c.193T>C	c.(193-195)Tat>Cat	p.Y65H		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	65							GTP binding			endometrium(1)|ovary(1)	2						GTTAGATGAGTATGAACTTTC	0.463													3	47					0	0	0	0	C	100240718	T	C	100240718	3	2	409	1	0	0	0	0	1	0	0	0	930	1638	57	5	203	5	ARL13A	23	100240718	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08	46662780	100240718	55029842	165	82027											
NKAP	79576	broad.mit.edu	37	chrX	119059238	119059238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttctcgaaaactggccAgaatcttgttctctctcttt	8	16	5	12	1	4	1	0	0	4	1	7	2	4	1	2	1	1	1	2	1	3	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:119059238A>G	ENST00000371410.3	-	9	1359	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	398	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAAACTGGCCAGAATCTTGTT	0.398													29	82					0	0	0	0	G	119059238	A	G	119059238	3	3	409	1	0	0	0	0	1	0	0	0	10509	188	7	5	58	5	NKAP	23	119059238	Missense_Mutation	SNP	A	TCGA-H7-7774-01A-21D-2078-08	18818520	119059238	36211322	166	82028											
STAG2	10735	broad.mit.edu	37	chrX	123196817	123196817	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcactgagctttttgcCgtggcccttcctcagttatt	8	15	7	11	1	2	1	2	1	0	0	3	1	3	1	3	1	2	2	3	1	3	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:123196817C>A	ENST00000371160.1	+	18	1994	c.1704C>A	c.(1702-1704)gcC>gcA	p.A568A	STAG2_ENST00000371144.3_Silent_p.A568A|STAG2_ENST00000371145.3_Silent_p.A568A|STAG2_ENST00000371157.3_Silent_p.A568A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Silent_p.A499A|STAG2_ENST00000218089.9_Silent_p.A568A			Q8N3U4	STAG2_HUMAN	stromal antigen 2	568					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			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						AGCTTTTTGCCGTGGCCCTTC	0.358													16	44					1.67942e-08	1.81225e-08	1	0	A	123196817	C	A	123196817	2	1	409	1	0	0	0	0	0	0	0	1	15333	639	23	3		3	STAG2	23	123196817	Silent	SNP	C	TCGA-H7-7774-01A-21D-2078-08	4137579	123196817	32073743	167	82029											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217855	130217855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtcggggaaacgtggtgcGaagggtgtttggccgcatcc	6	9	17	9	5	0	0	0	0	0	0	3	2	1	1	2	5	2	2	2	5	2	1			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:130217855G>A	ENST00000276211.5	+	4	812	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R20Q|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R144Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	156	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			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						AACGTGGTGCGAAGGGTGTTT	0.617													27	53					0	0	0	0	A	130217855	G	A	130217855	3	1	409	1	0	0	0	0	1	0	0	0	885	1058	37	1	477	1	ARHGAP36	23	130217855	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	7021038	130217855	25052705	168	82030											
MMGT1	93380	broad.mit.edu	37	chrX	135047295	135047295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagtactcgaccacgaTgattaaatacataaaaggat	19	8	8	6	2	0	1	0	1	0	0	1	5	0	3	1	2	2	1	1	2	8	4			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:135047295T>C	ENST00000305963.2	-	4	671	c.284A>G	c.(283-285)cAt>cGt	p.H95R	MMGT1_ENST00000433339.2_Missense_Mutation_p.H160R	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	95						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TCGACCACGATGATTAAATAC	0.353													42	100					0	0	0	0	C	135047295	T	C	135047295	3	2	409	1	0	0	0	0	1	0	0	0	9716	1464	51	5	115	5	MMGT1	23	135047295	Missense_Mutation	SNP	T	TCGA-H7-7774-01A-21D-2078-08	4829440	135047295	20223265	169	82031											
MAP7D3	79649	broad.mit.edu	37	chrX	135313731	135313731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtctctcgcttttgccttgGgagatgcttccatgcttgct	3	16	10	12	2	1	1	0	0	1	1	4	2	2	1	2	1	4	4	2	1	0	5			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:135313731G>A	ENST00000316077.9	-	8	1605	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.P427L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P444L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	462						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTTTGCCTTGGGAGATGCTTC	0.448													34	90					0	0	0	0	A	135313731	G	A	135313731	3	1	409	1	0	0	0	0	1	0	0	0	9338	1232	43	4	1289	4	MAP7D3	23	135313731	Missense_Mutation	SNP	G	TCGA-H7-7774-01A-21D-2078-08	266436	135313731	19956829	170	82032											
FGF13	2258	broad.mit.edu	37	chrX	137715119	137715119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagaactccgtgagatcGtgcagtgatggctccttgta	8	10	14	9	3	0	3	0	2	0	2	3	5	2	3	2	2	2	3	2	2	2	2			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:137715119G>A	ENST00000315930.6	-	5	1291	c.630C>T	c.(628-630)caC>caT	p.H210H	FGF13_ENST00000441825.2_Silent_p.H191H|FGF13_ENST00000541469.1_Silent_p.H164H|FGF13_ENST00000305414.4_Silent_p.H157H|FGF13_ENST00000370603.3_Silent_p.H220H	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	210					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCGTGAGATCGTGCAGTGATG	0.483													7	72					0	0	0	0	A	137715119	G	A	137715119	2	1	409	1	0	0	0	0	0	0	0	1	5887	1136	40	1		1	FGF13	23	137715119	Silent	SNP	G	TCGA-H7-7774-01A-21D-2078-08	2401388	137715119	17555441	171	82033											
GABRD	2563	broad.mit.edu	37	chr1	1956400	1956400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcgatgaatgacatcggcGactacgtgggctccaacctg	10	7	13	11	4	0	2	0	2	0	0	2	5	1	2	2	2	3	1	2	2	3	1	rs74786356		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:1956400G>A	ENST00000378585.4	+	2	171	c.88G>A	c.(88-90)Gac>Aac	p.D30N		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	30						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGACATCGGCGACTACGTGGG	0.612													11	56					0	0	0	0	A	1956400	G	A	1956400	3	1	410	1	0	0	0	0	1	0	0	0	6217	1058	37	1	94	1	GABRD	1	1956400	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08		1956400	247294221	1	82034											
H6PD	9563	broad.mit.edu	37	chr1	9305538	9305538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttggccatgaccacttctCagcccagcagctggccacag	8	8	9	16	0	1	1	1	1	1	0	2	1	1	1	4	2	3	2	4	2	0	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:9305538C>T	ENST00000377403.2	+	2	847	c.545C>T	c.(544-546)tCa>tTa	p.S182L	H6PD_ENST00000602477.1_Missense_Mutation_p.S193L	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	182	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GACCACTTCTCAGCCCAGCAG	0.582													14	88					0	0	0	0	T	9305538	C	T	9305538	3	4	410	1	0	0	0	0	1	0	0	0	6986	838	29	2	547	2	H6PD	1	9305538	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	7349138	9305538	239945083	2	82035											
CLCNKA	1187	broad.mit.edu	37	chr1	16357119	16357119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttctatgatggcaccatCattgtcaagaagctgccata	11	12	7	11	0	3	2	2	1	1	1	4	2	4	2	3	1	2	2	3	1	4	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:16357119C>G	ENST00000375692.1	+	16	1700	c.1572C>G	c.(1570-1572)atC>atG	p.I524M	CLCNKA_ENST00000439316.2_Missense_Mutation_p.I481M|CLCNKA_ENST00000331433.4_Missense_Mutation_p.I524M|CLCNKA_ENST00000420078.1_Missense_Mutation_p.I524M|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	524					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGGCACCATCATTGTCAAGA	0.602													16	50					0	0	0	0	G	16357119	C	G	16357119	3	3	410	1	0	0	0	0	1	0	0	0	3499	816	29	2	1626	2	CLCNKA	1	16357119	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	7051581	16357119	232893502	3	82036											
EXTL1	2134	broad.mit.edu	37	chr1	26349536	26349536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccctgctggggcctgcctCctcctcctcctcagcctgga	3	9	10	19	0	1	0	1	0	0	0	5	1	5	1	8	3	4	1	8	3	0	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:26349536C>T	ENST00000374280.3	+	1	1266	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	133					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTGCCTCCTCCTCCTCC	0.607													13	63					0	0	0	0	T	26349536	C	T	26349536	2	4	410	1	0	0	0	0	0	0	0	1	5363	842	30	2		2	EXTL1	1	26349536	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08	9992417	26349536	222901085	4	82037											
GNL2	29889	broad.mit.edu	37	chr1	38033324	38033324	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaatgttcctgttcctCttccctttgtgccttccgct	3	19	6	13	1	1	1	0	1	1	0	5	1	5	1	5	0	1	3	5	0	1	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:38033324C>A	ENST00000373062.3	-	15	2091	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	665					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCCTGTTCCTCTTCCCTTTGT	0.393													22	74					1.10923e-09	1.17353e-09	1	0	A	38033324	C	A	38033324	4	1	410	1	0	0	0	0	0	1	0	0	6587	922	32	2	210	2	GNL2	1	38033324	Nonsense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	11683788	38033324	211217297	5	82038											
ACOT11	26027	broad.mit.edu	37	chr1	55058269	55058269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtgaaccgggccttcaactCcagcatggaggtgtgtgggg	7	8	17	9	1	1	1	1	1	0	0	2	2	2	2	3	6	3	1	3	6	2	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:55058269C>G	ENST00000371316.3	+	4	444	c.362C>G	c.(361-363)tCc>tGc	p.S121C	ACOT11_ENST00000343744.2_Missense_Mutation_p.S121C|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	121	Acyl coenzyme A hydrolase 1.|Coenzyme A binding (By similarity).				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCCTTCAACTCCAGCATGGAG	0.607													17	37					0	0	0	0	G	55058269	C	G	55058269	3	3	410	1	0	0	0	0	1	0	0	0	149	855	30	2	376	2	ACOT11	1	55058269	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	17024945	55058269	194192352	6	82039											
VAV3	10451	broad.mit.edu	37	chr1	108315464	108315464	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatcttccacaagggtttCactacaacaaaggatatcat	14	12	5	10	0	4	0	3	0	1	0	5	1	5	1	1	2	2	1	1	2	5	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:108315464C>G	ENST00000370056.4	-	5	722	c.446_splice	c.e5-1	p.E150_splice	VAV3_ENST00000371846.4_Splice_Site_p.E85_splice|VAV3_ENST00000527011.1_Splice_Site_p.E150_splice|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	150					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACAAGGGTTTCACTACAACAA	0.368													13	74					0	0	0	0	G	108315464	C	G	108315464	5	3	410	1	0	0	0	0	0	0	1	0	17229	840	29	2	2212	2	VAV3	1	108315464	Splice_Site	SNP	C	TCGA-H7-8501-01A-11D-2394-08	53257195	108315464	140935157	7	82040											
TDRD10	126668	broad.mit.edu	37	chr1	154492809	154492809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtaccttctaaaggacttCaaccctcttgatgtccacaa	11	12	5	13	0	3	1	1	1	2	0	4	2	4	2	3	1	2	1	3	1	5	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:154492809C>G	ENST00000368482.4	+	5	1009	c.171C>G	c.(169-171)ttC>ttG	p.F57L	TDRD10_ENST00000368480.3_Missense_Mutation_p.F57L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	57	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAAAGGACTTCAACCCTCTTG	0.423													12	53					0	0	0	0	G	154492809	C	G	154492809	3	3	410	1	0	0	0	0	1	0	0	0	15825	825	29	2	185	2	TDRD10	1	154492809	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	46177345	154492809	94757812	8	82041											
HCN3	57657	broad.mit.edu	37	chr1	155255061	155255061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagggcaagatgttcgatGaggaaagcatcctgggcgag	12	6	15	8	2	0	2	0	1	0	1	2	5	1	3	2	3	1	3	2	3	2	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:155255061G>A	ENST00000368358.3	+	5	1203	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	399						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGTTCGATGAGGAAAGCAT	0.627													8	37					0	0	0	0	A	155255061	G	A	155255061	3	1	410	1	0	0	0	0	1	0	0	0	7048	1291	45	2	1213	2	HCN3	1	155255061	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	762252	155255061	93995560	9	82042											
CAMK1G	57172	broad.mit.edu	37	chr1	209786148	209786148	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacttcaagtcggaggtCatggtaccagttaaagccag	13	8	12	8	1	2	0	2	0	0	0	3	2	2	2	2	4	3	2	2	4	5	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:209786148C>A	ENST00000009105.1	+	12	1604	c.1359C>A	c.(1357-1359)gtC>gtA	p.V453V	CAMK1G_ENST00000361322.2_Silent_p.V453V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	453						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGTCGGAGGTCATGGTACCAG	0.517													21	74					1.90627e-21	2.08736e-21	1	0	A	209786148	C	A	209786148	2	1	410	1	0	0	0	0	0	0	0	1	2623	813	29	2		2	CAMK1G	1	209786148	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08	54531087	209786148	39464473	10	82043											
NID1	4811	broad.mit.edu	37	chr1	236189232	236189232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagttgctgagagcatagcGcaagatcttctcctcctggt	8	11	12	10	1	2	2	0	1	2	2	4	4	3	3	2	2	3	4	2	2	2	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:236189232G>A	ENST00000264187.6	-	8	2030	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	NID1_ENST00000366595.3_Missense_Mutation_p.R650C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	650	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAGCATAGCGCAAGATCTTC	0.572													44	182					0	0	0	0	A	236189232	G	A	236189232	3	1	410	1	0	0	0	0	1	0	0	0	10484	1087	38	1	1847	1	NID1	1	236189232	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	26403084	236189232	13061389	11	82044											
GREB1	9687	broad.mit.edu	37	chr2	11770226	11770226	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatgcgactacccctcgtGacagacaaggtactggctca	11	7	10	13	2	1	2	1	1	0	1	2	3	1	2	2	2	4	3	2	2	3	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:11770226G>C	ENST00000381486.2	+	26	4902	c.4602G>C	c.(4600-4602)gtG>gtC	p.V1534V	GREB1_ENST00000234142.5_Silent_p.V1534V|GREB1_ENST00000396123.1_Silent_p.V532V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1534						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TACCCCTCGTGACAGACAAGG	0.567													7	31					0	0	0	0	C	11770226	G	C	11770226	2	2	410	1	0	0	0	0	0	0	0	1	6810	1277	45	2		2	GREB1	2	11770226	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08		11770226	231429147	12	82045											
C2orf43	60526	broad.mit.edu	37	chr2	20990107	20990107	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagcgtctgtttgtcaaaGagtataaagcctttgcaaat	14	12	9	6	1	2	1	1	0	1	1	2	2	2	1	1	0	3	3	1	0	6	4	rs36063668	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:20990107G>C	ENST00000237822.3	-	3	285	c.206C>G	c.(205-207)tCt>tGt	p.S69C	C2orf43_ENST00000403006.2_5'UTR|C2orf43_ENST00000435420.2_Intron|C2orf43_ENST00000440866.2_Missense_Mutation_p.S69C|C2orf43_ENST00000419825.2_Missense_Mutation_p.S69C|C2orf43_ENST00000541941.1_5'UTR|C2orf43_ENST00000381090.3_Missense_Mutation_p.S69C	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	69										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGTCAAAGAGTATAAAGC	0.408													27	81					0	0	0	0	C	20990107	G	C	20990107	3	2	410	1	0	0	0	0	1	0	0	0	2187	942	33	2	791	2	C2orf43	2	20990107	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	9219881	20990107	222209266	13	82046											
APOB	338	broad.mit.edu	37	chr2	21247865	21247865	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcagctttcccaggagctgGaggtcatggagactggcaaa	11	7	14	9	0	1	1	1	0	0	1	2	4	2	3	1	5	3	4	1	5	1	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:21247865G>C	ENST00000233242.1	-	16	2503	c.2376C>G	c.(2374-2376)ctC>ctG	p.L792L	APOB_ENST00000399256.4_Silent_p.L792L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	792				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGGAGCTGGAGGTCATGGA	0.567													19	78					0	0	0	0	C	21247865	G	C	21247865	2	2	410	1	0	0	0	0	0	0	0	1	787	1161	41	2		2	APOB	2	21247865	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	257758	21247865	221951508	14	82047											
DHX57	90957	broad.mit.edu	37	chr2	39088439	39088439	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtggaataaaatgccacGagcggagcttggtagggata	12	9	15	5	2	0	0	0	0	0	0	0	4	0	3	1	5	3	2	1	5	5	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:39088439G>A	ENST00000295373.6	-	5	1239	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	371							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAATGCCACGAGCGGAGCTT	0.378													19	62					0	0	0	0	A	39088439	G	A	39088439	2	1	410	1	0	0	0	0	0	0	0	1	4550	1045	37	1		1	DHX57	2	39088439	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	17840574	39088439	204110934	15	82048											
SPRED2	200734	broad.mit.edu	37	chr2	65540957	65540957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtggttgaacatgtccctgCagtacacgcaccgcgagcgc	8	7	12	14	5	0	1	0	1	0	0	1	2	1	1	2	1	4	4	2	1	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:65540957C>T	ENST00000356388.4	-	6	1124	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	SPRED2_ENST00000443619.2_Missense_Mutation_p.C309Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	312	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CATGTCCCTGCAGTACACGCA	0.692													30	104					0	0	0	0	T	65540957	C	T	65540957	3	4	410	1	0	0	0	0	1	0	0	0	15183	710	25	4	325	4	SPRED2	2	65540957	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	26452518	65540957	177658416	16	82049											
SNRNP200	23020	broad.mit.edu	37	chr2	96963148	96963148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagcaggcacatgcacctCttcatagcccttacgctggc	9	8	9	15	1	2	1	1	0	1	1	2	1	2	1	2	2	4	4	2	2	2	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:96963148C>T	ENST00000323853.5	-	11	1407	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E444K	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	444						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACATGCACCTCTTCATAGCCC	0.507													12	34					0	0	0	0	T	96963148	C	T	96963148	3	4	410	1	0	0	0	0	1	0	0	0	14940	922	32	2	5220	2	SNRNP200	2	96963148	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	31422191	96963148	146236225	17	82050											
ZAP70	7535	broad.mit.edu	37	chr2	98351029	98351029	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgatgcccatggacacGagcgtgtatgagagccccta	9	6	13	13	4	0	1	0	1	0	1	0	5	0	2	4	2	3	1	4	2	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:98351029G>T	ENST00000264972.5	+	9	1151	c.936G>T	c.(934-936)acG>acT	p.T312T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.T5T|ZAP70_ENST00000442208.1_Silent_p.T186T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	312	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCATGGACACGAGCGTGTATG	0.592													10	61					7.48243e-07	7.8031e-07	1	0	T	98351029	G	T	98351029	2	4	410	1	0	0	0	0	0	0	0	1	17610	1045	37	3		3	ZAP70	2	98351029	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	1387881	98351029	144848344	18	82051											
AFF3	3899	broad.mit.edu	37	chr2	100199295	100199295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaggctgcagctggctgtCggccttaggctttttgctgg	3	13	16	9	1	0	1	0	1	0	0	1	1	0	1	1	5	3	6	1	5	1	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:100199295C>T	ENST00000317233.4	-	16	2993	c.2758G>A	c.(2758-2760)Gac>Aac	p.D920N	AFF3_ENST00000409236.1_Missense_Mutation_p.D920N|AFF3_ENST00000356421.2_Missense_Mutation_p.D945N|AFF3_ENST00000409579.1_Missense_Mutation_p.D945N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	920					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCTGGCTGTCGGCCTTAGGC	0.483													19	74					0	0	0	0	T	100199295	C	T	100199295	3	4	410	1	0	0	0	0	1	0	0	0	358	884	31	1	958	1	AFF3	2	100199295	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	1848266	100199295	143000078	19	82052											
RGPD3	653489	broad.mit.edu	37	chr2	107049685	107049685	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctccttcactatagttttcGagttcctgcatgactgactt	7	16	6	12	1	1	2	1	2	0	0	4	3	3	2	3	0	1	3	3	0	2	7			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:107049685G>C	ENST00000409886.3	-	16	2349	c.2262C>G	c.(2260-2262)ctC>ctG	p.L754L	RGPD3_ENST00000304514.7_Silent_p.L754L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	754					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TATAGTTTTCGAGTTCCTGCA	0.368													36	220					0	0	0	0	C	107049685	G	C	107049685	2	2	410	1	0	0	0	0	0	0	0	1	13369	1045	37	3		3	RGPD3	2	107049685	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	6850390	107049685	136149688	20	82053											
KYNU	8942	broad.mit.edu	37	chr2	143676204	143676204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcattagtgaataaagatGaaaatgccatctatttcttg	15	15	6	5	0	3	3	1	2	2	1	3	3	3	3	1	0	1	0	1	0	8	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:143676204G>C	ENST00000264170.4	+	3	454	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	KYNU_ENST00000410015.2_Missense_Mutation_p.E66Q|KYNU_ENST00000409512.1_Missense_Mutation_p.E66Q|KYNU_ENST00000375773.2_Missense_Mutation_p.E66Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	66					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GAATAAAGATGAAAATGCCAT	0.294													7	20					0	0	0	0	C	143676204	G	C	143676204	3	2	410	1	0	0	0	0	1	0	0	0	8640	1291	45	2	202	2	KYNU	2	143676204	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	36626519	143676204	99523169	21	82054											
MBD5	55777	broad.mit.edu	37	chr2	149247890	149247890	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttggaaaattctctggtCaaagactacatccattacaa	15	12	6	8	0	2	1	1	0	1	1	4	2	3	2	1	2	2	1	1	2	6	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:149247890C>G	ENST00000407073.1	+	12	4987	c.3990C>G	c.(3988-3990)gtC>gtG	p.V1330V	MBD5_ENST00000404807.1_Silent_p.V1563V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1330						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTCTCTGGTCAAAGACTACA	0.448													5	68					0	0	0	0	G	149247890	C	G	149247890	2	3	410	1	0	0	0	0	0	0	0	1	9416	813	29	2		2	MBD5	2	149247890	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08	5571686	149247890	93951483	22	82055											
RIF1	55183	broad.mit.edu	37	chr2	152318772	152318772	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgtgatattcctgccAtgtataataatctggatgtt	10	16	9	6	0	2	1	1	1	1	0	3	2	3	2	2	2	1	2	2	2	4	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:152318772A>T	ENST00000243326.4	+	27	3727	c.3244A>T	c.(3244-3246)Atg>Ttg	p.M1082L	RIF1_ENST00000453091.2_Missense_Mutation_p.M1082L|RIF1_ENST00000430328.2_Missense_Mutation_p.M1082L|RIF1_ENST00000444746.2_Missense_Mutation_p.M1082L|RIF1_ENST00000428287.2_Missense_Mutation_p.M1082L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1082					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATTCCTGCCATGTATAATAA	0.333													20	29					0	0	0	0	T	152318772	A	T	152318772	3	4	410	1	0	0	0	0	1	0	0	0	13442	217	8	5	3350	5	RIF1	2	152318772	Missense_Mutation	SNP	A	TCGA-H7-8501-01A-11D-2394-08	3070882	152318772	90880601	23	82056											
GALNT3	2591	broad.mit.edu	37	chr2	166615334	166615334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaatatactcaaaatattCttttgatatggaaaaaagtc	17	14	4	6	0	2	1	1	1	1	0	4	2	3	2	1	1	1	0	1	1	10	7			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:166615334C>G	ENST00000392701.3	-	6	1889	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q	GALNT3_ENST00000409882.1_Missense_Mutation_p.E110Q	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	372	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCAAAATATTCTTTTGATATG	0.284													21	68					0	0	0	0	G	166615334	C	G	166615334	3	3	410	1	0	0	0	0	1	0	0	0	6263	922	32	2	811	2	GALNT3	2	166615334	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	14296562	166615334	76584039	24	82057											
ITGA4	3676	broad.mit.edu	37	chr2	182386960	182386960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgctgttgggagtatgaaGacattgatgttgaatgtgtc	9	15	13	4	0	0	4	0	3	0	1	1	5	0	5	0	1	1	4	0	1	3	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:182386960G>C	ENST00000397033.2	+	18	2395	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	655					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGAGTATGAAGACATTGATGT	0.328													38	47					0	0	0	0	C	182386960	G	C	182386960	3	2	410	1	0	0	0	0	1	0	0	0	7931	933	33	2	2035	2	ITGA4	2	182386960	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	15771626	182386960	60812413	25	82058											
STAT1	6772	broad.mit.edu	37	chr2	191835441	191835441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatgctctatactgtgttCatctgtaaaaagacaaaatg	14	14	6	7	0	4	1	2	0	2	1	4	1	4	1	0	0	2	3	0	0	7	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:191835441C>T	ENST00000361099.3	-	25	2628	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	STAT1_ENST00000409465.1_Missense_Mutation_p.M747I|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	747					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATACTGTGTTCATCTGTAAAA	0.363													12	35					0	0	0	0	T	191835441	C	T	191835441	3	4	410	1	0	0	0	0	1	0	0	0	15354	826	29	2	15	2	STAT1	2	191835441	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	9448481	191835441	51363932	26	82059											
STAT1	6772	broad.mit.edu	37	chr2	191840560	191840560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagacacagaaatcaactCagtcttgatatatccagttc	14	12	5	10	0	4	3	3	1	1	2	6	3	5	3	1	0	1	1	1	0	4	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:191840560C>T	ENST00000361099.3	-	23	2500	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	STAT1_ENST00000392323.2_Missense_Mutation_p.E707K|STAT1_ENST00000392322.3_Missense_Mutation_p.E705K|STAT1_ENST00000409465.1_Missense_Mutation_p.E705K|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	705					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E705K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAAATCAACTCAGTCTTGATA	0.443													4	48					0	0	0	0	T	191840560	C	T	191840560	3	4	410	1	0	0	0	0	1	0	0	0	15354	835	29	2	155	2	STAT1	2	191840560	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	5119	191840560	51358813	27	82060											
CASP8	841	broad.mit.edu	37	chr2	202137385	202137385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatattttcatagagAtggagaagagggtcatcctg	11	12	13	5	0	2	3	2	0	0	3	3	6	3	4	1	3	1	1	1	3	3	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:202137385A>G	ENST00000358485.4	+	4	809	c.613A>G	c.(613-615)Atg>Gtg	p.M205V	CASP8_ENST00000323492.7_Missense_Mutation_p.M146V|CASP8_ENST00000264275.5_Missense_Mutation_p.M178V|CASP8_ENST00000264274.9_Missense_Mutation_p.M146V|CASP8_ENST00000432109.2_Missense_Mutation_p.M146V|CASP8_ENST00000392258.3_Missense_Mutation_p.M146V|CASP8_ENST00000392259.2_Missense_Mutation_p.M146V|CASP8_ENST00000392266.3_Missense_Mutation_p.M146V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	146					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTCATAGAGATGGAGAAGAG	0.393										HNSCC(4;0.00038)			56	73					0	0	0	0	G	202137385	A	G	202137385	3	3	410	1	0	0	0	0	1	0	0	0	2702	333	12	5	727	5	CASP8	2	202137385	Missense_Mutation	SNP	A	TCGA-H7-8501-01A-11D-2394-08	10296825	202137385	41061988	28	82061											
OBSL1	23363	broad.mit.edu	37	chr2	220432561	220432561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcctgagctgctctggcaGatgaccggcagctcctcccc	5	8	12	16	1	1	3	0	2	1	1	3	3	3	3	5	3	3	5	5	3	0	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:220432561G>C	ENST00000404537.1	-	3	1469	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	OBSL1_ENST00000603926.1_Missense_Mutation_p.I471M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I471M|OBSL1_ENST00000373876.1_Missense_Mutation_p.I471M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I58M|OBSL1_ENST00000373873.4_Missense_Mutation_p.I471M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	471					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGCTCTGGCAGATGACCGGCA	0.627													4	42					0	0	0	0	C	220432561	G	C	220432561	3	2	410	1	0	0	0	0	1	0	0	0	10884	932	33	2	4505	2	OBSL1	2	220432561	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	18295176	220432561	22766812	29	82062											
NGEF	25791	broad.mit.edu	37	chr2	233759519	233759519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaggatgtgcgcctcGgacgggtgcaggatcttcct	8	8	16	9	3	1	2	0	0	1	2	3	6	2	5	2	4	2	1	2	4	1	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:233759519G>A	ENST00000264051.3	-	6	1214	c.936C>T	c.(934-936)tcC>tcT	p.S312S	NGEF_ENST00000539537.1_Silent_p.S35S|NGEF_ENST00000409079.1_Silent_p.S220S|NGEF_ENST00000373552.4_Silent_p.S220S	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	312	DH.				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			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)		TGTGCGCCTCGGACGGGTGCA	0.607													23	58					0	0	0	0	A	233759519	G	A	233759519	2	1	410	1	0	0	0	0	0	0	0	1	10464	1103	39	1		1	NGEF	2	233759519	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	13326958	233759519	9439854	30	82063											
SH3BP4	23677	broad.mit.edu	37	chr2	235950835	235950835	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcatcaataaaaaagtCacagtgggtctctacggccc	13	9	8	11	1	4	0	3	0	1	0	5	1	4	0	1	2	1	0	1	2	5	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:235950835C>G	ENST00000409212.1	+	4	1929	c.1422C>G	c.(1420-1422)gtC>gtG	p.V474V	SH3BP4_ENST00000392011.2_Silent_p.V474V|SH3BP4_ENST00000344528.4_Silent_p.V474V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	474					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ATAAAAAAGTCACAGTGGGTC	0.547													29	38					0	0	0	0	G	235950835	C	G	235950835	2	3	410	1	0	0	0	0	0	0	0	1	14333	813	29	2		2	SH3BP4	2	235950835	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08	2191316	235950835	7248538	31	82064											
NISCH	11188	broad.mit.edu	37	chr3	52524200	52524200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccaccaaggctgtgtactTtgtgctccacgacggcctcc	6	10	9	16	2	0	0	0	0	0	0	3	1	3	0	5	2	2	3	5	2	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:52524200T>C	ENST00000345716.4	+	18	3700	c.3566T>C	c.(3565-3567)tTt>tCt	p.F1189S	NISCH_ENST00000479054.1_Missense_Mutation_p.F1189S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1189					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCTGTGTACTTTGTGCTCCAC	0.637													4	66					0	0	0	0	C	52524200	T	C	52524200	3	2	410	1	0	0	0	0	1	0	0	0	10502	1841	64	5	3636	5	NISCH	3	52524200	Missense_Mutation	SNP	T	TCGA-H7-8501-01A-11D-2394-08		52524200	145498230	32	82065											
BBX	56987	broad.mit.edu	37	chr3	107474523	107474523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcactctttcaactggcaGaggcaagttcctaagaatat	12	11	8	10	0	2	2	1	0	1	2	3	2	3	2	1	2	2	4	1	2	5	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:107474523G>A	ENST00000415149.2	+	10	1231	c.904G>A	c.(904-906)Gag>Aag	p.E302K	BBX_ENST00000402543.1_Missense_Mutation_p.E302K|BBX_ENST00000325805.8_Missense_Mutation_p.E302K|BBX_ENST00000416476.2_Missense_Mutation_p.E302K|BBX_ENST00000406780.1_Missense_Mutation_p.E302K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TCAACTGGCAGAGGCAAGTTC	0.398													21	68					0	0	0	0	A	107474523	G	A	107474523	3	1	410	1	0	0	0	0	1	0	0	0	1347	943	33	2	930	2	BBX	3	107474523	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	54950323	107474523	90547907	33	82066											
SIDT1	54847	broad.mit.edu	37	chr3	113327031	113327031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgccgcgacatcctccatcgGagagccctggaagccaagga	10	4	12	15	4	0	1	0	0	0	1	3	5	2	3	5	3	2	0	5	3	2	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:113327031G>A	ENST00000264852.4	+	16	2295	c.1569G>A	c.(1567-1569)cgG>cgA	p.R523R	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.R523R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	523						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCCTCCATCGGAGAGCCCTGG	0.542													19	83					0	0	0	0	A	113327031	G	A	113327031	2	1	410	1	0	0	0	0	0	0	0	1	14390	1161	41	2		2	SIDT1	3	113327031	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	5852508	113327031	84695399	34	82067											
HEG1	57493	broad.mit.edu	37	chr3	124738226	124738226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagactgtacagtagagtCtgagaactgggtcaacactg	12	9	11	9	0	2	3	1	1	1	3	3	4	3	3	1	1	3	2	1	1	4	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:124738226C>T	ENST00000311127.4	-	5	1535	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	490	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACAGTAGAGTCTGAGAACTGG	0.463													46	174					0	0	0	0	T	124738226	C	T	124738226	3	4	410	1	0	0	0	0	1	0	0	0	7094	913	32	2	2729	2	HEG1	3	124738226	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	11411195	124738226	73284204	35	82068											
ROPN1B	152015	broad.mit.edu	37	chr3	125701278	125701278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggatgctaaactacattGaacaggaagtgtaagttaac	16	9	10	6	0	0	1	0	1	0	0	0	3	0	3	0	2	5	4	0	2	7	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:125701278G>C	ENST00000514116.1	+	6	877	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	ROPN1B_ENST00000511082.1_Missense_Mutation_p.E96Q|ROPN1B_ENST00000251776.4_Missense_Mutation_p.E188Q|ROPN1B_ENST00000505382.1_Missense_Mutation_p.E96Q			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	188					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		AAACTACATTGAACAGGAAGT	0.418													12	40					0	0	0	0	C	125701278	G	C	125701278	3	2	410	1	0	0	0	0	1	0	0	0	13609	1291	45	2	576	2	ROPN1B	3	125701278	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	963052	125701278	72321152	36	82069											
BFSP2	8419	broad.mit.edu	37	chr3	133119350	133119350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactgcggatgcacctggaGagcaaagccacacgctcggg	11	4	13	13	3	0	1	0	0	0	1	1	3	0	2	2	3	5	3	2	3	2	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:133119350G>A	ENST00000302334.2	+	1	512	c.423G>A	c.(421-423)gaG>gaA	p.E141E		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	141	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGCACCTGGAGAGCAAAGCCA	0.597													9	35					0	0	0	0	A	133119350	G	A	133119350	2	1	410	1	0	0	0	0	0	0	0	1	1421	933	33	2		2	BFSP2	3	133119350	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	7418072	133119350	64903080	37	82070											
C3orf36	80111	broad.mit.edu	37	chr3	133647532	133647532	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccattcctccaggccctGagggggcagagagacacgtg	9	5	15	12	1	0	3	0	1	0	2	2	4	2	3	4	4	0	1	4	4	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:133647532G>C	ENST00000408895.2	-	1	1124	c.116C>G	c.(115-117)tCa>tGa	p.S39*		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	39										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TCCAGGCCCTGAGGGGGCAGA	0.612													13	34					0	0	0	0	C	133647532	G	C	133647532	4	2	410	1	0	0	0	0	0	1	0	0	2246	1294	45	2	385	2	C3orf36	3	133647532	Nonsense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	528182	133647532	64374898	38	82071											
EPHB1	2047	broad.mit.edu	37	chr3	134960105	134960105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgggaagtcatgtcatttgGagagagaccctattgggata	11	11	14	5	0	2	2	2	0	0	2	2	6	2	4	1	3	0	0	1	3	3	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:134960105G>A	ENST00000398015.3	+	13	2832	c.2462G>A	c.(2461-2463)gGa>gAa	p.G821E	EPHB1_ENST00000493838.1_Missense_Mutation_p.G382E	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	821	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATGTCATTTGGAGAGAGACCC	0.522													49	232					0	0	0	0	A	134960105	G	A	134960105	3	1	410	1	0	0	0	0	1	0	0	0	5212	1174	41	2	2512	2	EPHB1	3	134960105	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	1312573	134960105	63062325	39	82072											
GPR149	344758	broad.mit.edu	37	chr3	154147161	154147161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggtcaccgacaggaCgctcatgagatcatccacag	13	6	11	11	2	3	2	3	1	0	2	4	6	4	3	2	2	0	1	2	2	1	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:154147161C>T	ENST00000389740.2	-	1	343	c.244G>A	c.(244-246)Gtc>Atc	p.V82I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	82						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACCGACAGGACGCTCATGAGA	0.478													7	94					0	0	0	0	T	154147161	C	T	154147161	3	4	410	1	0	0	0	0	1	0	0	0	6703	536	19	1	1967	1	GPR149	3	154147161	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	19187056	154147161	43875269	40	82073											
MUC4	4585	broad.mit.edu	37	chr3	195481096	195481096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcacccgcacagtgccGcccatccccagtcaggtttg	6	7	10	18	3	2	0	2	0	0	0	3	0	3	0	5	2	1	3	5	2	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:195481096G>A	ENST00000463781.3	-	19	15775	c.15316C>T	c.(15316-15318)Cgg>Tgg	p.R5106W	MUC4_ENST00000349607.4_Missense_Mutation_p.R819W|MUC4_ENST00000346145.4_Missense_Mutation_p.R870W|MUC4_ENST00000475231.1_Missense_Mutation_p.R5054W	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1863					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCACAGTGCCGCCCATCCCCA	0.637													23	76					0	0	0	0	A	195481096	G	A	195481096	3	1	410	1	0	0	0	0	1	0	0	0	10048	1086	38	1	950	1	MUC4	3	195481096	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	41333935	195481096	2541334	41	82074											
KIT	3815	broad.mit.edu	37	chr4	55565907	55565907	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtctagttctgtgtactCaacgtggaaaagagaaaaca	14	11	10	6	1	3	1	1	0	2	1	3	3	3	2	0	1	3	2	0	1	7	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:55565907C>G	ENST00000288135.5	+	4	828	c.731C>G	c.(730-732)tCa>tGa	p.S244*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	244	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGTGTACTCAACGTGGAAA	0.428		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				24	99					0	0	0	0	G	55565907	C	G	55565907	4	3	410	1	0	0	0	0	0	1	0	0	8381	838	29	2	745	2	KIT	4	55565907	Nonsense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08		55565907	135588369	42	82075											
PAPSS1	9061	broad.mit.edu	37	chr4	108641325	108641325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttcttgcacaggctcccgGggatctccatgaccgcggag	6	9	12	14	3	2	1	0	1	2	0	4	3	3	3	3	4	1	2	3	4	0	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:108641325G>A	ENST00000265174.4	-	1	283	c.11C>T	c.(10-12)cCc>cTc	p.P4L	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	4					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CAGGCTCCCGGGGATCTCCAT	0.682													5	49					0	0	0	0	A	108641325	G	A	108641325	3	1	410	1	0	0	0	0	1	0	0	0	11505	1232	43	4	1911	4	PAPSS1	4	108641325	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	53075418	108641325	82512951	43	82076											
TDO2	6999	broad.mit.edu	37	chr4	156839325	156839325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgtgtgcatggtgcacaGaatgctgggcagcaaagctg	10	8	14	9	0	0	1	0	0	0	1	0	1	0	1	1	2	5	6	1	2	2	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:156839325G>A	ENST00000536354.2	+	11	1065	c.1001G>A	c.(1000-1002)aGa>aAa	p.R334K		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	334					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	ATGGTGCACAGAATGCTGGGC	0.473													19	56					0	0	0	0	A	156839325	G	A	156839325	3	1	410	1	0	0	0	0	1	0	0	0	15821	942	33	2	1043	2	TDO2	4	156839325	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	48198000	156839325	34314951	44	82077											
NEK1	4750	broad.mit.edu	37	chr4	170327760	170327760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttacatgtcttcagaatCagaaggtccttctttaatgt	11	16	6	8	0	4	2	2	0	2	2	5	2	5	2	1	1	2	0	1	1	5	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:170327760C>G	ENST00000439128.2	-	30	3917	c.3277G>C	c.(3277-3279)Gat>Cat	p.D1093H	NEK1_ENST00000512193.1_Missense_Mutation_p.D1024H|NEK1_ENST00000511633.1_Missense_Mutation_p.D1077H|NEK1_ENST00000507142.1_Missense_Mutation_p.D1121H|NEK1_ENST00000510533.1_Missense_Mutation_p.D1049H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1093					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTTCAGAATCAGAAGGTCCT	0.328													4	23					0	0	0	0	G	170327760	C	G	170327760	3	3	410	1	0	0	0	0	1	0	0	0	10391	826	29	2	519	2	NEK1	4	170327760	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	13488435	170327760	20826516	45	82078											
UFSP2	55325	broad.mit.edu	37	chr4	186343657	186343657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accattaggagtagctagctGaaaagccaaatcaaggcctc	15	7	9	10	0	1	1	1	1	0	0	2	2	1	2	3	2	3	3	3	2	7	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:186343657G>C	ENST00000264689.6	-	2	180	c.64C>G	c.(64-66)Cag>Gag	p.Q22E	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	22						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GTAGCTAGCTGAAAAGCCAAA	0.318													8	34					0	0	0	0	C	186343657	G	C	186343657	3	2	410	1	0	0	0	0	1	0	0	0	17034	1299	45	2	1389	2	UFSP2	4	186343657	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	16015897	186343657	4810619	46	82079											
FAT1	2195	broad.mit.edu	37	chr4	187530372	187530372	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttggtcactttgacttCtcccctgacggggtcaattg	7	14	10	10	1	3	2	2	2	1	0	4	2	3	2	2	3	0	1	2	3	2	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:187530372C>A	ENST00000441802.2	-	16	10380	c.10171G>T	c.(10171-10173)Gaa>Taa	p.E3391*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3391	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTTGACTTCTCCCCTGACG	0.443										HNSCC(5;0.00058)			28	24					1.17739e-12	1.26397e-12	1	0	A	187530372	C	A	187530372	4	1	410	1	0	0	0	0	0	1	0	0	5734	922	32	2	3643	2	FAT1	4	187530372	Nonsense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	1186715	187530372	3623904	47	82080											
SLC6A3	6531	broad.mit.edu	37	chr5	1406340	1406340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagcttccagcacagcCgccagtacaggctgggccgc	8	5	12	16	2	0	1	0	1	0	0	1	1	1	1	5	2	4	4	5	2	1	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:1406340C>T	ENST00000270349.9	-	12	1689	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R521Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	521					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGCACAGCCGCCAGTACAG	0.657													24	83					0	0	0	0	T	1406340	C	T	1406340	3	4	410	1	0	0	0	0	1	0	0	0	14773	652	23	1	316	1	SLC6A3	5	1406340	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08		1406340	179508920	48	82081											
FBXL7	23194	broad.mit.edu	37	chr5	15937205	15937205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacgctgaatgtccaGgactgcgaggtctccgtgga	8	8	13	12	3	1	2	0	1	1	1	4	5	3	4	3	3	1	1	3	3	1	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:15937205G>T	ENST00000504595.1	+	4	1867	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H	FBXL7_ENST00000510662.1_Missense_Mutation_p.Q415H|FBXL7_ENST00000329673.7_Missense_Mutation_p.Q450H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	462					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGAATGTCCAGGACTGCGAGG	0.612													7	21					8.12818e-05	8.24108e-05	1	0	T	15937205	G	T	15937205	3	4	410	1	0	0	0	0	1	0	0	0	5769	991	35	4	1400	4	FBXL7	5	15937205	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	14530865	15937205	164978055	49	82082											
C5orf42	65250	broad.mit.edu	37	chr5	37162628	37162628	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttttttacagaggccatGaaatgcaatccagctgaagt	12	13	8	8	0	1	3	0	2	1	1	2	3	2	3	2	1	3	2	2	1	4	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:37162628G>A	ENST00000274258.7	-	38	7856	c.4269C>T	c.(4267-4269)ttC>ttT	p.F1423F	C5orf42_ENST00000425232.2_Silent_p.F2543F|C5orf42_ENST00000508244.1_Silent_p.F2543F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2543										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGAGGCCATGAAATGCAATC	0.318													15	65					0	0	0	0	A	37162628	G	A	37162628	2	1	410	1	0	0	0	0	0	0	0	1	2322	1281	45	2		2	C5orf42	5	37162628	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	21225423	37162628	143752632	50	82083											
MAP1B	4131	broad.mit.edu	37	chr5	71490923	71490923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaaagccacccaaagttGaaagcaaagaaaaggtaatg	20	5	10	6	0	0	2	0	1	0	1	0	3	0	3	2	2	2	3	2	2	8	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:71490923G>C	ENST00000296755.7	+	5	2039	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	581						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCCAAAGTTGAAAGCAAAGA	0.443													6	37					0	0	0	0	C	71490923	G	C	71490923	3	2	410	1	0	0	0	0	1	0	0	0	9297	1291	45	2	1759	2	MAP1B	5	71490923	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	34328295	71490923	109424337	51	82084											
TTC37	9652	broad.mit.edu	37	chr5	94820490	94820490	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattagaccagtgacagcttGtgagagagaccacttttcaa	13	11	9	8	0	1	4	1	2	0	3	1	6	1	4	2	0	1	1	2	0	3	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:94820490G>A	ENST00000358746.2	-	38	4289	c.3991C>T	c.(3991-3993)Caa>Taa	p.Q1331*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1331							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTGACAGCTTGTGAGAGAGAC	0.348													16	66					0	0	0	0	A	94820490	G	A	94820490	4	1	410	1	0	0	0	0	0	1	0	0	16801	1386	48	4	727	4	TTC37	5	94820490	Nonsense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	23329567	94820490	86094770	52	82085											
DDX46	9879	broad.mit.edu	37	chr5	134099644	134099644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgctctggaagtcggtctaGaagtcgctcaccctcagaca	9	9	10	13	3	4	2	2	0	2	2	7	3	4	3	1	2	0	2	1	2	3	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:134099644G>C	ENST00000452510.2	+	2	226	c.68G>C	c.(67-69)aGa>aCa	p.R23T	DDX46_ENST00000354283.4_Missense_Mutation_p.R23T	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	23	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTCGGTCTAGAAGTCGCTCA	0.468													13	68					0	0	0	0	C	134099644	G	C	134099644	3	2	410	1	0	0	0	0	1	0	0	0	4396	942	33	2	74	2	DDX46	5	134099644	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	39279154	134099644	46815616	53	82086											
SPRY4	81848	broad.mit.edu	37	chr5	141694466	141694466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggccagctctggggcccCgccccgggtccgctttgggc	1	6	17	17	4	1	0	0	0	1	0	2	0	2	0	6	6	1	2	6	6	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:141694466C>T	ENST00000344120.4	-	3	463	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	SPRY4_ENST00000434127.2_Missense_Mutation_p.G70R	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	70					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGGCCCCGCCCCGGGTC	0.652									Testicular Cancer, Familial Clustering of				10	45					0	0	0	0	T	141694466	C	T	141694466	3	4	410	1	0	0	0	0	1	0	0	0	15198	652	23	1	695	1	SPRY4	5	141694466	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	7594822	141694466	39220794	54	82087											
GRIA1	2890	broad.mit.edu	37	chr5	153026494	153026494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttctcttgtagtctgttCccagttctccaaaggagtct	6	16	7	12	0	5	0	0	0	5	0	8	1	6	1	2	1	0	3	2	1	2	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:153026494C>A	ENST00000285900.5	+	3	570	c.227C>A	c.(226-228)tCc>tAc	p.S76Y	GRIA1_ENST00000521843.2_Missense_Mutation_p.S7Y|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.S76Y|GRIA1_ENST00000448073.4_Missense_Mutation_p.S86Y|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.S86Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	76					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTAGTCTGTTCCCAGTTCTCC	0.443													23	108					1.1804e-14	1.27343e-14	1	0	A	153026494	C	A	153026494	3	1	410	1	0	0	0	0	1	0	0	0	6817	855	30	2	237	2	GRIA1	5	153026494	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	11332028	153026494	27888766	55	82088											
WWC1	23286	broad.mit.edu	37	chr5	167855066	167855066	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggcccaggggtgtggcctGaaagtggcctgtgtctcagc	6	8	16	11	1	1	1	1	1	1	0	2	1	1	1	3	5	1	0	3	5	1	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:167855066G>C	ENST00000265293.4	+	12	2341	c.1839G>C	c.(1837-1839)ctG>ctC	p.L613L	WWC1_ENST00000521089.1_Silent_p.L613L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	613					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTGTGGCCTGAAAGTGGCCT	0.562													12	31					0	0	0	0	C	167855066	G	C	167855066	2	2	410	1	0	0	0	0	0	0	0	1	17507	1277	45	2		2	WWC1	5	167855066	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	14828572	167855066	13060194	56	82089											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158595	26158595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggggatcatgaattccttCgtcaacgacatcttcgagcg	10	11	10	10	4	3	1	2	1	1	0	6	4	4	2	1	2	2	0	1	2	2	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:26158595C>T	ENST00000289316.2	+	1	222	c.198C>T	c.(196-198)ttC>ttT	p.F66F	HIST1H2BD_ENST00000377777.4_Silent_p.F66F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	66					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TGAATTCCTTCGTCAACGACA	0.577													38	175					0	0	0	0	T	26158595	C	T	26158595	2	4	410	1	0	0	0	0	0	0	0	1	7193	883	31	1		1	HIST1H2BD	6	26158595	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08		26158595	144956472	57	82090											
HLA-A	3105	broad.mit.edu	37	chr6	29910349	29910349	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggccgtcatggcgcccCgaaccctcctcctgctactc	5	8	10	18	3	1	0	1	0	0	0	4	2	3	1	6	3	3	1	6	3	2	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:29910349C>T	ENST00000396634.1	+	3	360	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGGCGCCCCGAACCCTCCT	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			10	73					0	0	0	0	T	29910349	C	T	29910349	4	4	410	1	0	0	0	0	0	1	0	0	7245	644	23	1	21	1	HLA-A	6	29910349	Nonsense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	3751754	29910349	141204718	58	82091											
BAK1	578	broad.mit.edu	37	chr6	33543100	33543100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaatcttggtgaagtactCataggcattctctgccgtgg	8	12	12	9	1	3	1	1	1	2	0	4	1	3	1	1	4	2	3	1	4	4	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:33543100C>T	ENST00000374467.3	-	4	573	c.325G>A	c.(325-327)Gag>Aag	p.E109K	BAK1_ENST00000360661.5_Missense_Mutation_p.E109K|BAK1_ENST00000442998.2_Missense_Mutation_p.E109K	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	109					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGAAGTACTCATAGGCATTC	0.572													9	58					0	0	0	0	T	33543100	C	T	33543100	3	4	410	1	0	0	0	0	1	0	0	0	1309	835	29	2	322	2	BAK1	6	33543100	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	3632751	33543100	137571967	59	82092											
ITPR3	3710	broad.mit.edu	37	chr6	33660511	33660511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatcccctgcaggagtctCtcttcccagcccgagtggtc	5	10	9	17	1	3	0	1	0	2	0	7	2	5	1	4	2	2	1	4	2	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:33660511C>G	ENST00000374316.5	+	56	8525	c.7465C>G	c.(7465-7467)Ctc>Gtc	p.L2489V	ITPR3_ENST00000605930.1_Missense_Mutation_p.L2489V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2489					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCAGGAGTCTCTCTTCCCAGC	0.557													14	73					0	0	0	0	G	33660511	C	G	33660511	3	3	410	1	0	0	0	0	1	0	0	0	7975	913	32	2	7683	2	ITPR3	6	33660511	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	117411	33660511	137454556	60	82093											
DAAM2	23500	broad.mit.edu	37	chr6	39864721	39864721	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttccgggtggccagcctCaacaagatcgctgacaccaa	10	6	12	13	2	1	2	1	1	0	1	3	2	2	2	4	3	2	2	4	3	3	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:39864721C>G	ENST00000538976.1	+	20	2657	c.2475C>G	c.(2473-2475)ctC>ctG	p.L825L	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000398904.2_Silent_p.L825L|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Silent_p.L825L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	825	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGCCAGCCTCAACAAGATCG	0.587													13	32					0	0	0	0	G	39864721	C	G	39864721	2	3	410	1	0	0	0	0	0	0	0	1	4249	813	29	2		2	DAAM2	6	39864721	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08	6204210	39864721	131250346	61	82094											
ENPP5	59084	broad.mit.edu	37	chr6	46129474	46129474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatctgctaacgcattatcGtaaccgtggttgcctactgt	9	14	8	10	3	1	0	0	0	1	0	2	0	1	0	2	1	5	4	2	1	5	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:46129474G>A	ENST00000371383.2	-	5	1283	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	ENPP5_ENST00000230565.3_Silent_p.Y341Y			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	341						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACGCATTATCGTAACCGTGGT	0.363													29	230					0	0	0	0	A	46129474	G	A	46129474	2	1	410	1	0	0	0	0	0	0	0	1	5171	1140	40	1		1	ENPP5	6	46129474	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	6264753	46129474	124985593	62	82095											
PPP1R14C	81706	broad.mit.edu	37	chr6	150535945	150535945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcagacagtgatgaagaGagagcttcaaaattacaggt	16	8	12	5	0	1	5	1	2	0	3	1	7	1	5	0	1	3	2	0	1	4	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:150535945G>A	ENST00000361131.4	+	2	489	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	124					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GTGATGAAGAGAGAGCTTCAA	0.423													24	81					0	0	0	0	A	150535945	G	A	150535945	2	1	410	1	0	0	0	0	0	0	0	1	12437	933	33	2		2	PPP1R14C	6	150535945	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	104406471	150535945	20579122	63	82096											
SYNE1	23345	broad.mit.edu	37	chr6	152697692	152697692	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggatgcttgcaaacaaaGactgaaaaggtgacgcaaaa	17	7	10	7	1	0	3	0	2	0	1	0	4	0	4	0	2	3	3	0	2	6	2	rs117360770	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:152697692G>C	ENST00000367255.5	-	58	9749	c.9146_splice	c.e58-1	p.L3050_splice	SYNE1_ENST00000423061.1_Splice_Site_p.L3057_splice|SYNE1_ENST00000341594.5_Splice_Site_p.L3089_splice|SYNE1_ENST00000265368.4_Splice_Site_p.L3050_splice|SYNE1_ENST00000448038.1_Splice_Site_p.L3057_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3050					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAAACAAAGACTGAAAAGG	0.393										HNSCC(10;0.0054)			12	41					0	0	0	0	C	152697692	G	C	152697692	5	2	410	1	0	0	0	0	0	0	1	0	15536	956	33	2	17674	2	SYNE1	6	152697692	Splice_Site	SNP	G	TCGA-H7-8501-01A-11D-2394-08	2161747	152697692	18417375	64	82097											
SYNJ2	8871	broad.mit.edu	37	chr6	158510943	158510943	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaatgcccaggaggcaGaagcagcaatccggtgtctc	11	5	11	14	1	1	1	0	0	1	1	3	2	2	2	4	3	3	3	4	3	3	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:158510943G>T	ENST00000355585.4	+	25	3604	c.3529G>T	c.(3529-3531)Gaa>Taa	p.E1177*	SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.E262*|SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.E1177*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.E1132*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1177							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAGGAGGCAGAAGCAGCAAT	0.493													10	25					6.40141e-05	6.52051e-05	1	0	T	158510943	G	T	158510943	4	4	410	1	0	0	0	0	0	1	0	0	15544	943	33	2	3627	2	SYNJ2	6	158510943	Nonsense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	5813251	158510943	12604124	65	82098											
PLG	5340	broad.mit.edu	37	chr6	161128754	161128754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattccaatatcacagtaaaGagcaacaatgtgtgataatg	17	10	7	7	0	1	2	1	1	0	1	2	2	2	2	1	0	2	2	1	0	7	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:161128754G>C	ENST00000308192.9	+	3	271	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	PLG_ENST00000366924.2_Missense_Mutation_p.E70Q|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	70	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCACAGTAAAGAGCAACAATG	0.318													30	152					0	0	0	0	C	161128754	G	C	161128754	3	2	410	1	0	0	0	0	1	0	0	0	12158	943	33	2	218	2	PLG	6	161128754	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	2617811	161128754	9986313	66	82099											
SDK1	221935	broad.mit.edu	37	chr7	4247876	4247876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcaacgccgccggagatgGacctaagagtgacccccagc	10	5	11	15	3	1	3	1	1	0	2	1	5	1	4	5	2	2	0	5	2	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:4247876G>A	ENST00000404826.2	+	37	5499	c.5360G>A	c.(5359-5361)gGa>gAa	p.G1787E	SDK1_ENST00000389531.3_Missense_Mutation_p.G1767E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1787	Fibronectin type-III 11.				cell adhesion	integral to membrane		p.G1787V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCGGAGATGGACCTAAGAGT	0.617													11	42					0	0	0	0	A	4247876	G	A	4247876	3	1	410	1	0	0	0	0	1	0	0	0	14055	1174	41	2	5506	2	SDK1	7	4247876	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08		4247876	154890787	67	82100											
NPY	4852	broad.mit.edu	37	chr7	24325048	24325048	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacctcatcaccaggcagagGtgggtgggaccgcgggaccg	9	4	16	12	3	2	1	2	0	0	1	2	3	2	3	4	5	1	1	4	5	1	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:24325048G>A	ENST00000407573.1	+	3	478		c.e3+1		NPY_ENST00000405982.1_Splice_Site|NPY_ENST00000242152.2_Splice_Site			P01303	NPY_HUMAN	neuropeptide Y						adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCAGGCAGAGGTGGGTGGGAC	0.612													7	22					0	0	0	0	A	24325048	G	A	24325048	5	1	410	1	0	0	0	0	0	0	1	0	10678	1275	44	4	191	4	NPY	7	24325048	Splice_Site	SNP	G	TCGA-H7-8501-01A-11D-2394-08	20077172	24325048	134813615	68	82101											
CDK13	8621	broad.mit.edu	37	chr7	40039015	40039015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatattgactggggaaaaCgctgcgtggataaatttgat	14	11	12	4	2	0	3	0	2	0	1	0	5	0	5	0	3	2	1	0	3	6	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:40039015C>T	ENST00000181839.4	+	4	2703	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.R700C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	700			R -> L (in dbSNP:rs1057000).		alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.R700G(1)|p.L700V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTGGGGAAAACGCTGCGTGGA	0.358													21	60					0	0	0	0	T	40039015	C	T	40039015	3	4	410	1	0	0	0	0	1	0	0	0	3158	536	19	1	2112	1	CDK13	7	40039015	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	15713967	40039015	119099648	69	82102											
POM121L12	285877	broad.mit.edu	37	chr7	53103801	53103801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatcgcgccccctgagcGtcaggagagcccctggagat	7	5	15	14	4	1	3	1	1	0	2	2	6	1	4	4	3	2	0	4	3	0	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:53103801G>A	ENST00000408890.4	+	1	453	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146								p.R146H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCCTGAGCGTCAGGAGAGC	0.711													7	26					0	0	0	0	A	53103801	G	A	53103801	3	1	410	1	0	0	0	0	1	0	0	0	12313	1145	40	1	439	1	POM121L12	7	53103801	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	13064786	53103801	106034862	70	82103											
TFPI2	7980	broad.mit.edu	37	chr7	93519569	93519569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgtcgtagtagtaacGgagaagtagggcccggcagg	10	7	16	8	3	0	1	0	0	0	1	1	2	0	1	2	4	2	6	2	4	6	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:93519569G>A	ENST00000222543.5	-	2	463	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	TFPI2_ENST00000545378.1_Missense_Mutation_p.R51C|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	51	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TAGTAGTAACGGAGAAGTAGG	0.577													16	66					0	0	0	0	A	93519569	G	A	93519569	3	1	410	1	0	0	0	0	1	0	0	0	15903	1116	39	1	572	1	TFPI2	7	93519569	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	40415768	93519569	65619094	71	82104											
TRRAP	8295	broad.mit.edu	37	chr7	98524949	98524949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccctttgtcgccagcttGatccgccactatacgatggt	6	12	9	14	3	0	1	0	1	0	0	2	2	1	1	4	1	3	1	4	1	2	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:98524949G>C	ENST00000359863.4	+	23	3344	c.3135G>C	c.(3133-3135)ttG>ttC	p.L1045F	TRRAP_ENST00000446306.3_Missense_Mutation_p.L1044F|TRRAP_ENST00000355540.3_Missense_Mutation_p.L1045F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1045					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCCAGCTTGATCCGCCACT	0.592													4	21					0	0	0	0	C	98524949	G	C	98524949	3	2	410	1	0	0	0	0	1	0	0	0	16696	1281	45	2	3221	2	TRRAP	7	98524949	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	5005380	98524949	60613714	72	82105											
SERPINE1	5054	broad.mit.edu	37	chr7	100775249	100775252	+	Frame_Shift_Del	DEL	CTCC	CTCC	-																															cttcaacggccagtggaagaCtcccttccccgactccagca																										TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:100775249_100775252delCTCC	ENST00000223095.4	+	4	756_759	c.599_602delCTCC	c.(598-603)acfs	p.TP200fs	SERPINE1_ENST00000445463.2_Frame_Shift_Del_p.TP185fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	200					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CAGTGGAAGACTCCCTTCCCCGAC	0.564													21	215	---	---	---	---					-	100775252	CTCC	-	100775249	7	5	410	1	0	1	0	1	0	0	0	0	14198	565	20	0	609	0	SERPINE1	7	100775249	Frame_Shift_Del	DEL	CTCC	TCGA-H7-8501-01A-11D-2394-08	2250300	100775249	58363414	73	82106											
PIK3CG	5294	broad.mit.edu	37	chr7	106508944	106508944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggacacgcctccagaccCggccctagacgaggtgagga	10	4	13	14	3	0	3	0	1	0	2	1	6	1	5	4	4	0	0	4	4	1	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:106508944C>T	ENST00000359195.3	+	2	1248	c.938C>T	c.(937-939)cCg>cTg	p.P313L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	313					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			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						CCTCCAGACCCGGCCCTAGAC	0.587													8	69					0	0	0	0	T	106508944	C	T	106508944	3	4	410	1	0	0	0	0	1	0	0	0	11988	652	23	1	940	1	PIK3CG	7	106508944	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	5733695	106508944	52629719	74	82107											
TMEM168	64418	broad.mit.edu	37	chr7	112407306	112407306	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccagcacagtaggaagaaaCcaactcatttttaatctttt	14	13	5	9	0	2	1	1	0	1	1	3	2	3	2	2	1	3	2	2	1	5	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:112407306C>T	ENST00000312814.5	-	5	2600	c.2040G>A	c.(2038-2040)tgG>tgA	p.W680*	TMEM168_ENST00000454074.1_Nonsense_Mutation_p.W680*	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	680						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAGGAAGAAACCAACTCATTT	0.388													8	55					0	0	0	0	T	112407306	C	T	112407306	4	4	410	1	0	0	0	0	0	1	0	0	16177	508	18	4	57	4	TMEM168	7	112407306	Nonsense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	5898362	112407306	46731357	75	82108											
MET	4233	broad.mit.edu	37	chr7	116340033	116340033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaatgcctctggagtgtAttctcacagaaaagagaaaa	16	9	10	6	0	2	2	1	0	2	2	3	5	2	4	1	2	1	1	1	2	6	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:116340033A>G	ENST00000397752.3	+	2	1095	c.895A>G	c.(895-897)Att>Gtt	p.I299V	MET_ENST00000318493.6_Missense_Mutation_p.I299V|MET_ENST00000436117.2_Missense_Mutation_p.I299V	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	299	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTGGAGTGTATTCTCACAGA	0.423			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				21	78					0	0	0	0	G	116340033	A	G	116340033	3	3	410	1	0	0	0	0	1	0	0	0	9554	449	16	5	897	5	MET	7	116340033	Missense_Mutation	SNP	A	TCGA-H7-8501-01A-11D-2394-08	3932727	116340033	42798630	76	82109											
DNAJB6	10049	broad.mit.edu	37	chr7	157177596	157177596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactaggtcacgggggcCtcacttcattctcttccacg	6	11	10	14	2	5	0	4	0	1	0	7	0	6	0	2	4	0	0	2	4	1	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:157177596C>A	ENST00000262177.4	+	7	719	c.514C>A	c.(514-516)Ctc>Atc	p.L172I	DNAJB6_ENST00000429029.2_Missense_Mutation_p.L172I|DNAJB6_ENST00000452797.2_Missense_Mutation_p.L123I|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	172	Gly/Phe-rich.|Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCACGGGGGCCTCACTTCATT	0.388													25	90					1.33986e-20	1.45985e-20	1	0	A	157177596	C	A	157177596	3	1	410	1	0	0	0	0	1	0	0	0	4660	681	24	4	536	4	DNAJB6	7	157177596	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	40837563	157177596	1961067	77	82110											
RAD21	5885	broad.mit.edu	37	chr8	117868516	117868516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccactgaatcaggactatCaggcccacccactgtaaaaa	15	7	6	13	0	2	1	2	1	0	0	3	2	3	2	3	2	0	1	3	2	5	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:117868516C>G	ENST00000297338.2	-	8	1113	c.826G>C	c.(826-828)Gat>Cat	p.D276H		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	276					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCAGGACTATCAGGCCCACCC	0.378													37	63					0	0	0	0	G	117868516	C	G	117868516	3	3	410	1	0	0	0	0	1	0	0	0	13063	826	29	2	1097	2	RAD21	8	117868516	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08		117868516	28495506	78	82111											
MYC	4609	broad.mit.edu	37	chr8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgccgccaagctcgtctCagagaagctggcctcctacc	7	6	11	17	3	1	1	1	0	1	1	4	2	2	1	6	2	3	2	6	2	3	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:128750945C>T	ENST00000377970.2	+	2	992	c.482C>T	c.(481-483)tCa>tTa	p.S161L	MYC_ENST00000524013.1_Missense_Mutation_p.S160L|MYC_ENST00000259523.6_Missense_Mutation_p.S146L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	35					0	0	0	0	T	128750945	C	T	128750945	3	4	410	1	0	0	0	0	1	0	0	0	10086	838	29	2	488	2	MYC	8	128750945	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	10882429	128750945	17613077	79	82112											
PTK2	5747	broad.mit.edu	37	chr8	141727722	141727722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtgcttcatcagaccctCcggagtcccaggacactgtg	7	8	12	14	2	2	1	2	0	0	1	4	3	4	3	3	3	1	1	3	3	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:141727722C>A	ENST00000522684.1	-	23	2346	c.2117G>T	c.(2116-2118)gGa>gTa	p.G706V	PTK2_ENST00000519419.1_Missense_Mutation_p.G750V|PTK2_ENST00000395218.2_Missense_Mutation_p.G706V|PTK2_ENST00000538769.1_Missense_Mutation_p.G374V|PTK2_ENST00000517887.1_Missense_Mutation_p.G750V|PTK2_ENST00000340930.3_Missense_Mutation_p.G706V|PTK2_ENST00000430260.2_Missense_Mutation_p.G16V|PTK2_ENST00000535192.1_Missense_Mutation_p.G706V|PTK2_ENST00000519465.1_Missense_Mutation_p.G334V|PTK2_ENST00000521059.1_Missense_Mutation_p.G706V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	706					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCAGACCCTCCGGAGTCCCA	0.517													13	110					0.000219431	0.000221454	1	0	A	141727722	C	A	141727722	3	1	410	1	0	0	0	0	1	0	0	0	12842	855	30	2	1081	2	PTK2	8	141727722	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	12976777	141727722	4636300	80	82113											
KANK1	23189	broad.mit.edu	37	chr9	713055	713055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagtcaggtgtggggcaGataaatattaacgacaacta	17	8	11	5	1	1	2	1	0	0	2	1	3	1	2	0	3	2	1	0	3	7	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:713055G>A	ENST00000382303.1	+	7	2941	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	KANK1_ENST00000382293.3_Silent_p.Q605Q|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.Q763Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	763					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTGTGGGGCAGATAAATATTA	0.517													23	65					0	0	0	0	A	713055	G	A	713055	2	1	410	1	0	0	0	0	0	0	0	1	8029	933	33	2		2	KANK1	9	713055	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08		713055	140500376	81	82114											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A																															ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg																								rs121913388		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	9					0	0	0	0	A	21971120	G	A	21971120	4	1	410	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	21258065	21971120	119242311	82	82115	1047	2									
CDKN2A	1029	broad.mit.edu	37	chr9	21971121	21971121	+	Missense_Mutation	SNP	G	G	A																															gcagcgtcgtgcacgggtcgGgtgagagtggcggggtcggc																										TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:21971121G>A	ENST00000579755.1	-	2	572	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	CDKN2A_ENST00000494262.1_Silent_p.T28T|CDKN2A_ENST00000498628.2_Silent_p.T28T|CDKN2A_ENST00000479692.2_Silent_p.T28T|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94S|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Silent_p.T79T|CDKN2A_ENST00000446177.1_Silent_p.T79T|CDKN2A_ENST00000497750.1_Silent_p.T28T|CDKN2A_ENST00000498124.1_Silent_p.T79T|CDKN2A_ENST00000579122.1_Silent_p.T79T|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135S|CDKN2A_ENST00000578845.2_Silent_p.T28T			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.R80*(9)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T79T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCACGGGTCGGGTGAGAGTGG	0.731	R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	9					0	0	0	0	A	21971121	G	A	21971121	3	1	410	1	0	0	0	0	1	0	0	0	3190	1232	43	4	241	4	CDKN2A	9	21971121	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	1	21971121	119242310	83	82116	1047	2									
OR13J1	392309	broad.mit.edu	37	chr9	35870144	35870144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggtcttccgggatgacagGaggtggaccagcatcagagg	10	7	16	8	1	2	2	1	1	1	1	3	5	3	5	2	6	1	1	2	6	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:35870144G>A	ENST00000377981.2	-	1	317	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGGATGACAGGAGGTGGACCA	0.587													14	55					0	0	0	0	A	35870144	G	A	35870144	2	1	410	1	0	0	0	0	0	0	0	1	11015	1161	41	2		2	OR13J1	9	35870144	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	13899023	35870144	105343287	84	82117											
GDA	9615	broad.mit.edu	37	chr9	74828882	74828882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaatacaaggagaccactGaggaatcgatcaaggaaact	18	5	10	8	1	1	3	1	1	0	2	2	7	1	5	1	3	2	0	1	3	6	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:74828882G>A	ENST00000358399.3	+	5	646	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GDA_ENST00000238018.4_Missense_Mutation_p.E185K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.E143K|GDA_ENST00000376989.3_Missense_Mutation_p.E160K|GDA_ENST00000545168.1_Missense_Mutation_p.E111K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	185					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGACCACTGAGGAATCGAT	0.403													10	41					0	0	0	0	A	74828882	G	A	74828882	3	1	410	1	0	0	0	0	1	0	0	0	6356	1291	45	2	571	2	GDA	9	74828882	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	38958738	74828882	66384549	85	82118											
HABP4	22927	broad.mit.edu	37	chr9	99252296	99252296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaacccagatgacccGgaagatttccctgcgctgtc	8	7	9	17	2	0	3	0	1	0	2	2	4	1	4	5	1	2	1	5	1	2	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:99252296G>A	ENST00000375249.4	+	8	1293	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	HABP4_ENST00000375251.3_Silent_p.P301P|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	406					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CAGATGACCCGGAAGATTTCC	0.522													5	52					0	0	0	0	A	99252296	G	A	99252296	2	1	410	1	0	0	0	0	0	0	0	1	6989	1103	39	1		1	HABP4	9	99252296	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	24423414	99252296	41961135	86	82119											
FIBCD1	84929	broad.mit.edu	37	chr9	133779573	133779573	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcaccgcgcaggtactGcccattgaggttggacgtgt	6	9	15	11	4	0	1	0	1	0	0	0	2	0	2	2	3	3	4	2	3	1	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:133779573G>A	ENST00000372338.4	-	7	1506	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.Q422*|FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.Q264*	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	422	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGCAGGTACTGCCCATTGAGG	0.612													10	106					0	0	0	0	A	133779573	G	A	133779573	4	1	410	1	0	0	0	0	0	1	0	0	5929	1328	46	4	125	4	FIBCD1	9	133779573	Nonsense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	34527277	133779573	7433858	87	82120											
SURF4	6836	broad.mit.edu	37	chr9	136231752	136231752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaagtgaaggagggtcatGaacatcagaaccagcaagac	17	5	11	8	0	3	4	3	2	0	2	3	5	3	5	1	2	3	1	1	2	5	0	rs143747201		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:136231752G>C	ENST00000371989.3	-	5	636	c.507C>G	c.(505-507)ttC>ttG	p.F169L	SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Missense_Mutation_p.F169L|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	169						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GGAGGGTCATGAACATCAGAA	0.557													8	32					0	0	0	0	C	136231752	G	C	136231752	3	2	410	1	0	0	0	0	1	0	0	0	15495	1281	45	2	310	2	SURF4	9	136231752	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	2452179	136231752	4981679	88	82121											
MAMDC4	158056	broad.mit.edu	37	chr9	139749068	139749068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcccggaaccaccgcGctggtggtcctgagcgcccc	4	6	14	17	4	0	1	0	1	0	0	2	2	2	2	6	4	2	2	6	4	1	0	rs142114032		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:139749068G>A	ENST00000445819.1	+	8	924	c.874G>A	c.(874-876)Gct>Act	p.A292T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.A292T			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	292	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GAACCACCGCGCTGGTGGTCC	0.706													8	18					0	0	0	0	A	139749068	G	A	139749068	3	1	410	1	0	0	0	0	1	0	0	0	9273	1087	38	1	904	1	MAMDC4	9	139749068	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	3517316	139749068	1464363	89	82122											
DCLRE1C	64421	broad.mit.edu	37	chr10	14976739	14976739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcttggatcacagaacGtagtatccaaatatacactt	17	11	5	8	1	2	1	1	0	1	1	3	2	3	2	1	1	2	2	1	1	8	6	rs149556109		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:14976739G>A	ENST00000453695.2	-	7	584	c.140C>T	c.(139-141)aCg>aTg	p.T47M	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T167M|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T167M|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T52M	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	167					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ATCACAGAACGTAGTATCCAA	0.363								Non-homologous end-joining					22	117					0	0	0	0	A	14976739	G	A	14976739	3	1	410	1	0	0	0	0	1	0	0	0	4328	1145	40	1	1610	1	DCLRE1C	10	14976739	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08		14976739	120558008	90	82123											
PCDH15	65217	broad.mit.edu	37	chr10	55591146	55591146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatgaaggccagagccaaCaaggccccttctgtgtatcc	11	8	10	12	0	1	3	0	2	1	1	2	3	2	3	5	2	2	1	5	2	4	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:55591146C>A	ENST00000373965.2	-	31	4546	c.4152G>T	c.(4150-4152)ttG>ttT	p.L1384F	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1340F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L988F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L1382F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1355F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1306F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1377F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L1377F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L1384F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1377					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAGAGCCAACAAGGCCCCTT	0.488										HNSCC(58;0.16)			14	78					1.3612e-06	1.41281e-06	1	0	A	55591146	C	A	55591146	3	1	410	1	0	0	0	0	1	0	0	0	11582	477	17	4	3371	4	PCDH15	10	55591146	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	40614407	55591146	79943601	91	82124											
TACR2	6865	broad.mit.edu	37	chr10	71168822	71168822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagatgagggcgatcaccacGaggtggtacctgcagggaga	11	6	16	8	2	1	3	1	1	0	2	1	6	1	3	2	4	2	2	2	4	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:71168822G>A	ENST00000373306.4	-	3	1140	c.597C>T	c.(595-597)ctC>ctT	p.L199L	TACR2_ENST00000373307.1_5'UTR	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	199					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	p.L199L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CGATCACCACGAGGTGGTACC	0.687													4	15					0	0	0	0	A	71168822	G	A	71168822	2	1	410	1	0	0	0	0	0	0	0	1	15597	1045	37	1		1	TACR2	10	71168822	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	15577676	71168822	64365925	92	82125											
C10orf2	56652	broad.mit.edu	37	chr10	102749197	102749197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacatcgaaagggcgagctGacggtcttcacaggtaaccc	11	6	13	11	3	2	1	1	1	1	0	3	4	2	2	1	4	2	2	1	4	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:102749197G>A	ENST00000370228.1	+	1	1415	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	C10orf2_ENST00000311916.2_Silent_p.L410L|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	410	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGGCGAGCTGACGGTCTTCA	0.502													13	62					0	0	0	0	A	102749197	G	A	102749197	2	1	410	1	0	0	0	0	0	0	0	1	1607	1277	45	2		2	C10orf2	10	102749197	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	31580375	102749197	32785550	93	82126											
ELOVL3	83401	broad.mit.edu	37	chr10	103988638	103988638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctttattcactggtacCaccacagcacagtgctcgtg	9	12	7	13	1	3	0	2	0	1	0	4	0	3	0	2	1	3	3	2	1	2	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:103988638C>T	ENST00000370005.3	+	4	663	c.442C>T	c.(442-444)Cac>Tac	p.H148Y		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	148					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TCACTGGTACCACCACAGCAC	0.512													38	126					0	0	0	0	T	103988638	C	T	103988638	3	4	410	1	0	0	0	0	1	0	0	0	5113	594	21	4	456	4	ELOVL3	10	103988638	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	1239441	103988638	31546109	94	82127											
CYP17A1	1586	broad.mit.edu	37	chr10	104592419	104592419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacattctggtcaatctcctCgtagagcttcttcttcacct	7	15	5	14	1	6	1	2	0	4	1	8	1	6	1	2	1	1	2	2	1	2	5	rs142037395	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:104592419C>T	ENST00000369887.3	-	6	1159	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	330			Missing (in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities).		androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	TCAATCTCCTCGTAGAGCTTC	0.532													12	82					0	0	0	0	T	104592419	C	T	104592419	3	4	410	1	0	0	0	0	1	0	0	0	4179	893	31	1	550	1	CYP17A1	10	104592419	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	603781	104592419	30942328	95	82128											
EIF3A	8661	broad.mit.edu	37	chr10	120829139	120829139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaaggagaatagcccgtGaatatcttccacagctttga	14	9	9	9	1	1	4	0	2	1	2	2	5	2	4	2	1	2	1	2	1	5	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:120829139G>A	ENST00000369144.3	-	6	896	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H223Y|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	257					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AATAGCCCGTGAATATCTTCC	0.323													21	70					0	0	0	0	A	120829139	G	A	120829139	3	1	410	1	0	0	0	0	1	0	0	0	5048	1290	45	2	3447	2	EIF3A	10	120829139	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	16236720	120829139	14705608	96	82129											
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			44	40					0	0	0	0	T	534289	C	T	534289	3	4	410	1	0	0	0	0	1	0	0	0	7398	652	23	1	618	1	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08		534289	134472227	97	82130											
PHRF1	57661	broad.mit.edu	37	chr11	608214	608214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcctctgacacggagcgaGaggagcccacagagagccag	11	2	16	12	2	1	3	0	1	1	2	1	7	1	5	3	3	3	0	3	3	0	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:608214G>C	ENST00000264555.5	+	14	2886	c.2758G>C	c.(2758-2760)Gag>Cag	p.E920Q	PHRF1_ENST00000416188.2_Missense_Mutation_p.E919Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E916Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.E918Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	920							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CACGGAGCGAGAGGAGCCCAC	0.682													7	54					0	0	0	0	C	608214	G	C	608214	3	2	410	1	0	0	0	0	1	0	0	0	11933	943	33	2	2805	2	PHRF1	11	608214	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	73925	608214	134398302	98	82131											
ZNF215	7762	broad.mit.edu	37	chr11	6977363	6977363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgaatgttatcaatgtggGaaagccttctgccgaagttc	11	13	10	7	1	2	1	1	1	1	0	3	3	2	2	2	1	2	2	2	1	6	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:6977363G>A	ENST00000278319.5	+	7	1743	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.G385G	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	385					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATCAATGTGGGAAAGCCTTCT	0.383													25	55					0	0	0	0	A	6977363	G	A	6977363	2	1	410	1	0	0	0	0	0	0	0	1	17866	1161	41	2		2	ZNF215	11	6977363	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	6369149	6977363	128029153	99	82132											
SWAP70	23075	broad.mit.edu	37	chr11	9750958	9750958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgataagacttttgaaatCagtgcttcagataagaagaa	16	13	8	4	0	2	6	2	2	0	4	2	6	2	6	0	0	1	1	0	0	5	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:9750958C>T	ENST00000318950.6	+	6	961	c.858C>T	c.(856-858)atC>atT	p.I286I	SWAP70_ENST00000447399.2_Silent_p.I228I	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	286	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CTTTTGAAATCAGTGCTTCAG	0.318													5	39					0	0	0	0	T	9750958	C	T	9750958	2	4	410	1	0	0	0	0	0	0	0	1	15515	816	29	2		2	SWAP70	11	9750958	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08	2773595	9750958	125255558	100	82133											
F2	2147	broad.mit.edu	37	chr11	46748086	46748086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaggagatgggctggatGaggactcagacagggccatc	12	5	16	8	0	1	4	1	1	0	3	2	7	1	6	1	5	0	1	1	5	0	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:46748086G>A	ENST00000311907.5	+	8	969	c.913G>A	c.(913-915)Gag>Aag	p.E305K	F2_ENST00000530231.1_Missense_Mutation_p.E305K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	305					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TGGGCTGGATGAGGACTCAGA	0.617													13	47					0	0	0	0	A	46748086	G	A	46748086	3	1	410	1	0	0	0	0	1	0	0	0	5380	1291	45	2	943	2	F2	11	46748086	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	36997128	46748086	88258430	101	82134											
ME3	10873	broad.mit.edu	37	chr11	86382833	86382833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagggttcctggtgacatCgtatccgcgcttcttcaggg	6	12	13	10	3	2	2	1	2	1	0	5	2	4	2	2	3	0	3	2	3	1	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:86382833C>A	ENST00000543262.1	-	2	480	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	ME3_ENST00000393324.3_Missense_Mutation_p.D52Y|ME3_ENST00000359636.2_Missense_Mutation_p.D52Y	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	52					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CTGGTGACATCGTATCCGCGC	0.701													15	28					5.35267e-07	5.60877e-07	1	0	A	86382833	C	A	86382833	3	1	410	1	0	0	0	0	1	0	0	0	9488	884	31	3	1716	3	ME3	11	86382833	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	39634747	86382833	48623683	102	82135											
CTSC	1075	broad.mit.edu	37	chr11	88061298	88061298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagtttgttcctcagatGtggcaaatcatatatcccca	11	12	6	12	0	2	1	2	0	0	1	4	1	4	1	4	1	0	3	4	1	3	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:88061298G>A	ENST00000524463.1	-	3	473	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	CTSC_ENST00000529974.1_Missense_Mutation_p.H129Y|CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000227266.5_Intron	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN	cathepsin C	0			V -> E (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCCTCAGATGTGGCAAATCA	0.378													16	47					0	0	0	0	A	88061298	G	A	88061298	3	1	410	1	0	0	0	0	1	0	0	0	4063	1377	48	4	1157	4	CTSC	11	88061298	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	1678465	88061298	46945218	103	82136											
PDZRN4	29951	broad.mit.edu	37	chr12	41967568	41967568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagtcacaaaaagatgaTgaaaaagagaaacaagaaaa	25	4	8	4	0	1	6	1	3	0	3	1	7	1	6	0	0	1	0	0	0	8	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:41967568T>A	ENST00000298919.7	+	10	2595	c.2207T>A	c.(2206-2208)aTg>aAg	p.M736K	PDZRN4_ENST00000402685.2_Missense_Mutation_p.M996K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.M738K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	996							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAAAGATGATGAAAAAGAGA	0.458													13	48					0	0	0	0	A	41967568	T	A	41967568	3	1	410	1	0	0	0	0	1	0	0	0	11781	1464	51	5	3098	5	PDZRN4	12	41967568	Missense_Mutation	SNP	T	TCGA-H7-8501-01A-11D-2394-08		41967568	91884327	104	82137											
OR8S1	341568	broad.mit.edu	37	chr12	48919952	48919952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattcaccactacagctatGagatgccatccctcctccct	9	11	4	17	0	2	1	2	1	0	1	5	2	5	1	5	0	3	1	5	0	2	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:48919952G>C	ENST00000310194.1	+	1	538	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTACAGCTATGAGATGCCATC	0.512													18	78					0	0	0	0	C	48919952	G	C	48919952	3	2	410	1	0	0	0	0	1	0	0	0	11317	1291	45	2	540	2	OR8S1	12	48919952	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	6952384	48919952	84931943	105	82138											
KRT74	121391	broad.mit.edu	37	chr12	52967160	52967160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctcctgggcgcgcaccttCtggatctcagggtccagctc	4	9	12	16	3	2	0	1	0	2	0	6	1	4	1	3	3	1	3	3	3	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:52967160C>G	ENST00000549343.1	-	1	440	c.402G>C	c.(400-402)caG>caC	p.Q134H	KRT74_ENST00000305620.2_Missense_Mutation_p.Q134H			Q7RTS7	K2C74_HUMAN	keratin 74	134	Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGCGCACCTTCTGGATCTCAG	0.592													22	90					0	0	0	0	G	52967160	C	G	52967160	3	3	410	1	0	0	0	0	1	0	0	0	8539	912	32	2	1223	2	KRT74	12	52967160	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	4047208	52967160	80884735	106	82139											
MAP3K12	7786	broad.mit.edu	37	chr12	53876955	53876955	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttagggagcaaagactcCgtcttgaggatatctggcct	10	11	12	8	1	2	2	0	1	2	1	3	4	3	4	2	3	1	2	2	3	3	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:53876955C>T	ENST00000267079.2	-	12	1758	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	MAP3K12_ENST00000547488.1_Silent_p.T544T|MAP3K12_ENST00000547035.1_Silent_p.T544T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	511				T -> A (in Ref. 1; AAA67343).	histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCAAAGACTCCGTCTTGAGGA	0.527													10	74					0	0	0	0	T	53876955	C	T	53876955	2	4	410	1	0	0	0	0	0	0	0	1	9315	639	23	1		1	MAP3K12	12	53876955	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08	909795	53876955	79974940	107	82140											
TBK1	29110	broad.mit.edu	37	chr12	64878099	64878099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtgctactatatttcatGaactggtatataaacaaacc	16	12	5	8	0	1	1	1	1	0	0	1	1	1	1	1	1	5	2	1	1	9	7			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:64878099G>A	ENST00000331710.5	+	9	1348	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	337	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TATATTTCATGAACTGGTATA	0.353													4	16					0	0	0	0	A	64878099	G	A	64878099	3	1	410	1	0	0	0	0	1	0	0	0	15731	1291	45	2	1039	2	TBK1	12	64878099	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	11001144	64878099	68973796	108	82141											
FGD6	55785	broad.mit.edu	37	chr12	95488418	95488418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattcttttcttggcatactCttctattgccctggaaatcg	7	17	7	10	1	4	0	0	0	4	0	5	2	4	1	1	2	2	1	1	2	3	8			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:95488418C>G	ENST00000343958.4	-	15	3773	c.3550G>C	c.(3550-3552)Gag>Cag	p.E1184Q	FGD6_ENST00000546711.1_Missense_Mutation_p.E1184Q|FGD6_ENST00000549499.1_Missense_Mutation_p.E1184Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1184					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGCATACTCTTCTATTGCC	0.388													20	86					0	0	0	0	G	95488418	C	G	95488418	3	3	410	1	0	0	0	0	1	0	0	0	5882	922	32	2	770	2	FGD6	12	95488418	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	30610319	95488418	38363477	109	82142											
EP400	57634	broad.mit.edu	37	chr12	132471207	132471207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagtaaatagaccttcctCagccaccaataaggcactat	14	9	5	13	0	1	1	1	0	0	1	3	1	3	1	5	1	1	2	5	1	6	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:132471207C>T	ENST00000333577.4	+	7	2295	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	EP400_ENST00000330386.6_Missense_Mutation_p.S693L|EP400_ENST00000389562.2_Missense_Mutation_p.S692L|EP400_ENST00000389561.2_Missense_Mutation_p.S693L|EP400_ENST00000332482.4_Missense_Mutation_p.S656L			Q96L91	EP400_HUMAN	E1A binding protein p400	729					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGACCTTCCTCAGCCACCAAT	0.622													30	122					0	0	0	0	T	132471207	C	T	132471207	3	4	410	1	0	0	0	0	1	0	0	0	5187	838	29	2	2093	2	EP400	12	132471207	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	36982789	132471207	1380688	110	82143											
DGKH	160851	broad.mit.edu	37	chr13	42701667	42701667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggaaaaagcgatacttCaaacttcgaggccgcaccct	13	7	10	11	3	1	0	1	0	0	0	2	3	1	1	2	3	3	1	2	3	4	3	rs140398882		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:42701667C>T	ENST00000337343.4	+	2	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F	DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.4_Silent_p.F87F|DGKH_ENST00000540693.1_Silent_p.F87F	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	87	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGCGATACTTCAAACTTCGAG	0.408													6	29					0	0	0	0	T	42701667	C	T	42701667	2	4	410	1	0	0	0	0	0	0	0	1	4507	825	29	2		2	DGKH	13	42701667	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08		42701667	72468211	111	82144											
ALG11	440138	broad.mit.edu	37	chr13	52598374	52598374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctaatgcagtgtgttcctGatgtttacattgattcaatg	9	17	8	7	0	2	2	1	2	1	0	3	2	3	2	1	0	2	3	1	0	3	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:52598374G>A	ENST00000521508.1	+	3	513	c.508G>A	c.(508-510)Gat>Aat	p.D170N	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTGTGTTCCTGATGTTTACAT	0.423													29	106					0	0	0	0	A	52598374	G	A	52598374	3	1	410	1	0	0	0	0	1	0	0	0	513	1290	45	2	518	2	ALG11	13	52598374	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	9896707	52598374	62571504	112	82145											
PCDH9	5101	broad.mit.edu	37	chr13	67801352	67801352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accgccttcaaatgaaatggGacctctctttcaataaaaca	15	10	5	11	1	3	1	2	1	1	0	4	2	3	2	3	1	1	0	3	1	5	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:67801352G>A	ENST00000544246.1	-	2	1912	c.1221C>T	c.(1219-1221)gtC>gtT	p.V407V	PCDH9_ENST00000377865.2_Silent_p.V407V|PCDH9_ENST00000328454.5_Silent_p.V407V|PCDH9_ENST00000377861.3_Silent_p.V407V|PCDH9_ENST00000456367.1_Silent_p.V407V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	407	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AATGAAATGGGACCTCTCTTT	0.373													19	84					0	0	0	0	A	67801352	G	A	67801352	2	1	410	1	0	0	0	0	0	0	0	1	11589	1161	41	2		2	PCDH9	13	67801352	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	15202978	67801352	47368526	113	82146											
AKAP6	9472	broad.mit.edu	37	chr14	33291302	33291302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccaaatagctctcagtCgtccatttcaccagtgggtt	8	13	8	12	1	2	0	2	0	1	0	6	0	4	0	3	1	1	3	3	1	2	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:33291302C>T	ENST00000280979.4	+	13	4453	c.4283C>T	c.(4282-4284)tCg>tTg	p.S1428L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1428					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCTCTCAGTCGTCCATTTCA	0.398													9	58					0	0	0	0	T	33291302	C	T	33291302	3	4	410	1	0	0	0	0	1	0	0	0	455	893	31	1	4329	1	AKAP6	14	33291302	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08		33291302	74058238	114	82147											
SLC8A3	6547	broad.mit.edu	37	chr14	70633834	70633834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcattggcagaaccatcctCtgttttgtagtccacataca	10	13	7	11	0	1	1	0	0	1	1	3	1	3	1	3	1	3	4	3	1	3	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:70633834C>G	ENST00000381269.2	-	2	2059	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	SLC8A3_ENST00000534137.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E436Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E436Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	436	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAACCATCCTCTGTTTTGTAG	0.522													32	144					0	0	0	0	G	70633834	C	G	70633834	3	3	410	1	0	0	0	0	1	0	0	0	14796	922	32	2	1616	2	SLC8A3	14	70633834	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	37342532	70633834	36715706	115	82148											
CLMN	79789	broad.mit.edu	37	chr14	95670430	95670430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttttcttgatcggcaaaGagttggacctcccgttctcc	6	14	9	12	2	2	2	0	1	2	1	5	3	3	3	3	2	0	4	3	2	1	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:95670430G>A	ENST00000298912.4	-	9	1369	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	419						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATCGGCAAAGAGTTGGACCT	0.507													23	120					0	0	0	0	A	95670430	G	A	95670430	3	1	410	1	0	0	0	0	1	0	0	0	3572	942	33	2	1772	2	CLMN	14	95670430	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	25036596	95670430	11679110	116	82149											
TECPR2	9895	broad.mit.edu	37	chr14	102901162	102901162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgcctgggaccagagctGatgaaggcagccccgtggag	8	5	17	11	1	0	3	0	2	0	1	0	5	0	5	4	4	3	3	4	4	1	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:102901162G>A	ENST00000359520.7	+	9	2234	c.2008G>A	c.(2008-2010)Gat>Aat	p.D670N	TECPR2_ENST00000558678.1_Missense_Mutation_p.D670N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	670							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GACCAGAGCTGATGAAGGCAG	0.587													10	42					0	0	0	0	A	102901162	G	A	102901162	3	1	410	1	0	0	0	0	1	0	0	0	15838	1290	45	2	2038	2	TECPR2	14	102901162	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	7230732	102901162	4448378	117	82150											
HEXA	3073	broad.mit.edu	37	chr15	72638653	72638653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccaatcaccagagccttCtgctcaggggtacctgaggg	9	7	11	14	0	3	2	2	1	1	1	3	2	3	2	5	3	3	2	5	3	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:72638653C>T	ENST00000268097.5	-	12	1847	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	HEXA_ENST00000457859.2_3'UTR|HEXA_ENST00000567159.1_Silent_p.Q448Q|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Silent_p.Q459Q|HEXA_ENST00000429918.2_Silent_p.Q275Q|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	448					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCAGAGCCTTCTGCTCAGGGG	0.562													10	34					0	0	0	0	T	72638653	C	T	72638653	2	4	410	1	0	0	0	0	0	0	0	1	7123	912	32	2		2	HEXA	15	72638653	Silent	SNP	C	TCGA-H7-8501-01A-11D-2394-08		72638653	29892739	118	82151											
MAN2C1	4123	broad.mit.edu	37	chr15	75660449	75660449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgccgacctgcgcggggcgGaagtcccgctggactgcctc	4	6	15	16	6	0	0	0	0	0	0	3	3	1	2	4	4	2	1	4	4	1	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:75660449G>A	ENST00000565683.1	-	2	203	c.192C>T	c.(190-192)ttC>ttT	p.F64F	MAN2C1_ENST00000569482.1_Silent_p.F64F|MAN2C1_ENST00000563622.1_Silent_p.F64F|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000267978.5_Silent_p.F64F	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	64					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCGCGGGGCGGAAGTCCCGCT	0.687													3	7					0	0	0	0	A	75660449	G	A	75660449	2	1	410	1	0	0	0	0	0	0	0	1	9287	1165	41	2		2	MAN2C1	15	75660449	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	3021796	75660449	26870943	119	82152											
FANCI	55215	broad.mit.edu	37	chr15	89804048	89804048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagaaagaaatagcgtctGagatcataggattactgatg	15	10	11	5	1	2	4	1	2	1	3	2	6	2	5	0	1	3	1	0	1	5	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:89804048G>C	ENST00000310775.7	+	4	348	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	FANCI_ENST00000300027.8_Missense_Mutation_p.E88Q|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.E88Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	88					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AATAGCGTCTGAGATCATAGG	0.428								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				50	109					0	0	0	0	C	89804048	G	C	89804048	3	2	410	1	0	0	0	0	1	0	0	0	5714	1291	45	2	272	2	FANCI	15	89804048	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	14143599	89804048	12727344	120	82153											
MGRN1	23295	broad.mit.edu	37	chr16	4715153	4715153	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttggctgcctttgaaaagGtaagtgccatctggccatca	9	12	10	10	0	3	1	1	1	2	0	3	1	3	1	3	3	2	2	3	3	3	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:4715153G>T	ENST00000399577.5	+	7	771		c.e7+1		MGRN1_ENST00000415496.1_Splice_Site|MGRN1_ENST00000588994.1_Splice_Site|MGRN1_ENST00000262370.7_Splice_Site|MGRN1_ENST00000586183.1_Splice_Site	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTTTGAAAAGGTAAGTGCCAT	0.647													9	31					1.58986e-06	1.64236e-06	1	0	T	4715153	G	T	4715153	5	4	410	1	0	0	0	0	0	0	1	0	9628	1275	44	4	708	4	MGRN1	16	4715153	Splice_Site	SNP	G	TCGA-H7-8501-01A-11D-2394-08		4715153	85639600	121	82154											
ATXN2L	11273	broad.mit.edu	37	chr16	28842045	28842045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttagctctttgccacctCgtggccctcaccatctggac	5	11	8	17	1	3	0	1	0	2	0	4	1	3	1	5	2	2	1	5	2	1	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:28842045C>T	ENST00000336783.4	+	9	1311	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	ATXN2L_ENST00000340394.8_Missense_Mutation_p.R382C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R382C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R382C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R382C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R382C|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	382						membrane		p.R382C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTTGCCACCTCGTGGCCCTCA	0.612													8	30					0	0	0	0	T	28842045	C	T	28842045	3	4	410	1	0	0	0	0	1	0	0	0	1216	884	31	1	1178	1	ATXN2L	16	28842045	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	24126892	28842045	61512708	122	82155											
RLTPR	146206	broad.mit.edu	37	chr16	67680212	67680212	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctcgctcgacccttGggtgaggcctggcaaattcg	5	11	11	14	3	1	1	0	1	1	0	5	2	2	1	3	3	0	2	3	3	1	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:67680212G>C	ENST00000334583.6	+	5	701	c.374_splice	c.e5+1	p.G125_splice	RLTPR_ENST00000545661.1_Splice_Site_p.G125_splice	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	125										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCGACCCTTGGGTGAGGCCT	0.637													8	31					0	0	0	0	C	67680212	G	C	67680212	5	2	410	1	0	0	0	0	0	0	1	0	13479	1362	47	4	391	4	RLTPR	16	67680212	Splice_Site	SNP	G	TCGA-H7-8501-01A-11D-2394-08	38838167	67680212	22674541	123	82156											
NFAT5	10725	broad.mit.edu	37	chr16	69726982	69726982	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcagcagtcttctcattCacaggcccaactttttcatc	8	15	5	13	0	4	0	3	0	2	0	6	0	4	0	1	1	3	2	1	1	1	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69726982C>G	ENST00000349945.1	+	14	4524	c.2972C>G	c.(2971-2973)tCa>tGa	p.S991*	NFAT5_ENST00000432919.1_Nonsense_Mutation_p.S1085*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.S991*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.S991*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.S1067*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.S1084*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1067					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCTTCTCATTCACAGGCCCAA	0.413													37	133					0	0	0	0	G	69726982	C	G	69726982	4	3	410	1	0	0	0	0	0	1	0	0	10430	838	29	2	3304	2	NFAT5	16	69726982	Nonsense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	2046770	69726982	20627771	124	82157			1	118		3	3	124	C		2.130614e-07
NFAT5	10725	broad.mit.edu	37	chr16	69727005	69727005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcccaactttttcatcctCaaaatcctattgccgatgct	10	13	5	13	1	2	0	2	0	0	0	4	1	4	0	4	1	3	1	4	1	4	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69727005C>G	ENST00000349945.1	+	14	4547	c.2995C>G	c.(2995-2997)Caa>Gaa	p.Q999E	NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1093E|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q999E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q999E|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1075E|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1092E	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1075					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTTTCATCCTCAAAATCCTAT	0.418													34	129					0	0	0	0	G	69727005	C	G	69727005	3	3	410	1	0	0	0	0	1	0	0	0	10430	827	29	2	3327	2	NFAT5	16	69727005	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	23	69727005	20627748	125	82158			1	118		3	3	124	C		2.130614e-07
NFAT5	10725	broad.mit.edu	37	chr16	69727105	69727105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtcagacttctacaacctCctctgaacaaatgcagcctc	12	9	5	15	0	3	2	1	1	2	1	5	2	4	2	3	0	5	1	3	0	4	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69727105C>T	ENST00000349945.1	+	14	4647	c.3095C>T	c.(3094-3096)tCc>tTc	p.S1032F	NFAT5_ENST00000432919.1_Missense_Mutation_p.S1126F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1032F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1032F|NFAT5_ENST00000354436.2_Missense_Mutation_p.S1108F|NFAT5_ENST00000567239.1_Missense_Mutation_p.S1125F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1108					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCTACAACCTCCTCTGAACAA	0.438													48	147					0	0	0	0	T	69727105	C	T	69727105	3	4	410	1	0	0	0	0	1	0	0	0	10430	855	30	2	3427	2	NFAT5	16	69727105	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	100	69727105	20627648	126	82159			1	118		3	3	124	C		2.130614e-07
NXN	64359	broad.mit.edu	37	chr17	725684	725684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggacccgggtgaggcttCggcagggcggacactgaaag	9	4	17	11	3	0	2	0	2	0	0	1	4	0	4	2	6	0	2	2	6	1	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:725684C>T	ENST00000336868.3	-	4	717	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	NXN_ENST00000538650.1_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.R101Q|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	209	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGTGAGGCTTCGGCAGGGCGG	0.602													10	37					0	0	0	0	T	725684	C	T	725684	3	4	410	1	0	0	0	0	1	0	0	0	10858	884	31	1	701	1	NXN	17	725684	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08		725684	80469526	127	82160											
WDR81	124997	broad.mit.edu	37	chr17	1634142	1634142	+	Translation_Start_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccggtcctgggcgacaTcgtgtcagggcctgtgctca	5	8	16	12	3	2	0	2	0	0	0	4	2	3	0	3	4	1	1	3	4	0	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:1634142T>G	ENST00000545662.1	+	0	121				WDR81_ENST00000446363.1_De_novo_Start_InFrame|WDR81_ENST00000437219.2_Missense_Mutation_p.I87S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.I63S|WDR81_ENST00000409644.1_Missense_Mutation_p.I1290S|WDR81_ENST00000309182.5_Missense_Mutation_p.I239S			B3KXU1	B3KXU1_HUMAN	WD repeat domain 81											cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCGACATCGTGTCAGGG	0.642													16	54					0	0	0	0	G	1634142	T	G	1634142	1	3	410	1	0	0	0	0	0	0	0	0	17426	1435	50	5		5	WDR81	17	1634142	Translation_Start_Site	SNP	T	TCGA-H7-8501-01A-11D-2394-08	908458	1634142	79561068	128	82161											
ZZEF1	23140	broad.mit.edu	37	chr17	3999943	3999943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggaaggcagattcagttCcggtagaaaaaatagtgctg	13	10	12	6	1	1	2	1	0	0	2	2	3	2	3	1	3	1	4	1	3	6	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:3999943C>T	ENST00000381638.2	-	10	1848	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	575							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGATTCAGTTCCGGTAGAAAA	0.358													26	128					0	0	0	0	T	3999943	C	T	3999943	3	4	410	1	0	0	0	0	1	0	0	0	18346	855	30	2	7345	2	ZZEF1	17	3999943	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	2365801	3999943	77195267	129	82162											
NUP88	4927	broad.mit.edu	37	chr17	5319905	5319905	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggtaattctaataccAtaagtccttttattcctata	12	19	3	7	0	1	0	0	0	1	0	3	0	3	0	3	1	1	1	3	1	8	12			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:5319905A>T	ENST00000573584.1	-	2	904	c.395T>A	c.(394-396)aTg>aAg	p.M132K		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	132					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTCTAATACCATAAGTCCTTT	0.338													9	37					0	0	0	0	T	5319905	A	T	5319905	3	4	410	1	0	0	0	0	1	0	0	0	10842	217	8	5	1894	5	NUP88	17	5319905	Missense_Mutation	SNP	A	TCGA-H7-8501-01A-11D-2394-08	1319962	5319905	75875305	130	82163											
EIF5A	1984	broad.mit.edu	37	chr17	7214726	7214726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacagcggggaggtacgaGaggaccttcgtctccctgag	9	6	16	10	3	1	2	0	1	1	1	3	6	1	5	2	5	2	1	2	5	1	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7214726G>A	ENST00000336458.8	+	4	729	c.328G>A	c.(328-330)Gag>Aag	p.E110K	EIF5A_ENST00000419711.2_Missense_Mutation_p.E110K|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000416016.2_Missense_Mutation_p.E110K|EIF5A_ENST00000573542.1_Missense_Mutation_p.E110K|EIF5A_ENST00000571955.1_Missense_Mutation_p.E110K|EIF5A_ENST00000576930.1_Missense_Mutation_p.E110K|EIF5A_ENST00000336452.7_Missense_Mutation_p.E140K|EIF5A_ENST00000572815.1_Missense_Mutation_p.E110K	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	110					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GGAGGTACGAGAGGACCTTCG	0.582													23	67					0	0	0	0	A	7214726	G	A	7214726	3	1	410	1	0	0	0	0	1	0	0	0	5079	943	33	2	432	2	EIF5A	17	7214726	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	1894821	7214726	73980484	131	82164											
EIF5A	1984	broad.mit.edu	37	chr17	7214764	7214764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggagaccttggcaaggaGattgagcagaagtacgactg	13	6	16	6	1	0	4	0	1	0	3	0	8	0	4	1	3	2	3	1	3	3	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7214764G>C	ENST00000336458.8	+	4	767	c.366G>C	c.(364-366)gaG>gaC	p.E122D	EIF5A_ENST00000419711.2_Missense_Mutation_p.E122D|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000416016.2_Missense_Mutation_p.E122D|EIF5A_ENST00000573542.1_Missense_Mutation_p.E122D|EIF5A_ENST00000571955.1_Missense_Mutation_p.E122D|EIF5A_ENST00000576930.1_Missense_Mutation_p.E122D|EIF5A_ENST00000336452.7_Missense_Mutation_p.E152D|EIF5A_ENST00000572815.1_Missense_Mutation_p.E122D	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	122					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TTGGCAAGGAGATTGAGCAGA	0.557													30	92					0	0	0	0	C	7214764	G	C	7214764	3	2	410	1	0	0	0	0	1	0	0	0	5079	933	33	2	470	2	EIF5A	17	7214764	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	38	7214764	73980446	132	82165											
FXR2	9513	broad.mit.edu	37	chr17	7504747	7504747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctaggtgcttggtagcttCttcattgcgggacataagta	8	14	11	8	1	3	0	1	0	2	0	3	1	3	1	0	3	3	4	0	3	4	8			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7504747C>T	ENST00000250113.7	-	7	974	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	214						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TTGGTAGCTTCTTCATTGCGG	0.502													45	153					0	0	0	0	T	7504747	C	T	7504747	3	4	410	1	0	0	0	0	1	0	0	0	6164	922	32	2	1325	2	FXR2	17	7504747	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	289983	7504747	73690463	133	82166											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622		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)			13	51					0	0	0	0	C	7578442	T	C	7578442	3	2	410	1	0	0	0	0	1	0	0	0	16476	1638	57	5	810	5	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-H7-8501-01A-11D-2394-08	73695	7578442	73616768	134	82167											
TP53	7157	broad.mit.edu	37	chr17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctggacctgggtcttCagtgaaccattgttcaatat	9	15	8	9	0	5	1	3	1	2	0	5	2	5	2	2	2	1	1	2	2	3	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7579521C>A	ENST00000420246.2	-	4	298	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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)		CCTGGGTCTTCAGTGAACCAT	0.597		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)			46	201					6.34439e-16	6.87832e-16	1	0	A	7579521	C	A	7579521	4	1	410	1	0	0	0	0	0	1	0	0	16476	835	29	2	1136	2	TP53	17	7579521	Nonsense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	1079	7579521	73615689	135	82168											
MYH2	4620	broad.mit.edu	37	chr17	10427801	10427801	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtgtgcagtagctgAacacgctcactggcatccag	9	8	12	12	1	1	1	1	1	0	0	2	1	2	1	2	2	3	5	2	2	2	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:10427801A>G	ENST00000245503.5	-	35	5541	c.5157T>C	c.(5155-5157)gtT>gtC	p.V1719V	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.V1719V|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1719					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGTAGCTGAACACGCTCAC	0.493													23	77					0	0	0	0	G	10427801	A	G	10427801	2	3	410	1	0	0	0	0	0	0	0	1	10105	233	9	5		5	MYH2	17	10427801	Silent	SNP	A	TCGA-H7-8501-01A-11D-2394-08	2848280	10427801	70767409	136	82169											
TEKT3	64518	broad.mit.edu	37	chr17	15217438	15217438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactccgcggaagtagcCgacaccgtctgatgtgttgc	7	9	11	14	4	1	1	0	1	1	0	3	3	3	2	4	1	2	2	4	1	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:15217438C>T	ENST00000395930.1	-	6	1030	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	TEKT3_ENST00000338696.2_Missense_Mutation_p.G282S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	282			G -> A (in dbSNP:rs230898).		microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CGGAAGTAGCCGACACCGTCT	0.542													13	47					0	0	0	0	T	15217438	C	T	15217438	3	4	410	1	0	0	0	0	1	0	0	0	15848	652	23	1	644	1	TEKT3	17	15217438	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	4789637	15217438	65977772	137	82170											
HOXB8	3218	broad.mit.edu	37	chr17	46690733	46690733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaccagattttgacctgtCtctctgtcagtcccagggcg	7	11	11	12	1	3	2	1	1	2	1	5	3	4	3	3	2	1	0	3	2	1	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:46690733C>T	ENST00000239144.4	-	2	797	c.563G>A	c.(562-564)aGa>aAa	p.R188K	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.R187K	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						TTTGACCTGTCTCTCTGTCAG	0.522													15	98					0	0	0	0	T	46690733	C	T	46690733	3	4	410	1	0	0	0	0	1	0	0	0	7357	913	32	2	172	2	HOXB8	17	46690733	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	31473295	46690733	34504477	138	82171											
ITGA3	3675	broad.mit.edu	37	chr17	48154800	48154800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggggaaccccttcaaaCggaaccagagggtgagcacc	12	4	13	12	1	1	2	1	1	0	1	1	4	1	4	4	4	5	2	4	4	3	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:48154800C>T	ENST00000320031.8	+	16	2458	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	ITGA3_ENST00000007722.7_Missense_Mutation_p.R710W	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	710					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CCCCTTCAAACGGAACCAGAG	0.602													21	75					0	0	0	0	T	48154800	C	T	48154800	3	4	410	1	0	0	0	0	1	0	0	0	7930	527	19	1	2190	1	ITGA3	17	48154800	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	1464067	48154800	33040410	139	82172											
NDC80	10403	broad.mit.edu	37	chr18	2589202	2589202	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttggattttgtctccaGaggatttatttaatgtggat	8	19	10	4	0	1	1	0	0	1	1	2	4	1	4	1	3	0	1	1	3	2	8			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:2589202G>A	ENST00000261597.4	+	9	945		c.e9-1			NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component						attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTTGTCTCCAGAGGATTTATT	0.378													13	66					0	0	0	0	A	2589202	G	A	2589202	5	1	410	1	0	0	0	0	0	0	1	0	10312	956	33	2	793	2	NDC80	18	2589202	Splice_Site	SNP	G	TCGA-H7-8501-01A-11D-2394-08		2589202	75488046	140	82173											
PPP4R1	9989	broad.mit.edu	37	chr18	9559477	9559477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgccaattctgtcttccGagtgtcaaggccacaccagg	9	9	10	13	1	3	0	1	0	2	0	4	1	4	0	4	2	1	0	4	2	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:9559477G>A	ENST00000400556.3	-	14	2041	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	PPP4R1_ENST00000400555.3_Silent_p.L639L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	656					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TCTGTCTTCCGAGTGTCAAGG	0.478													7	192					0	0	0	0	A	9559477	G	A	9559477	2	1	410	1	0	0	0	0	0	0	0	1	12479	1045	37	1		1	PPP4R1	18	9559477	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	6970275	9559477	68517771	141	82174											
DSG1	1828	broad.mit.edu	37	chr18	28908287	28908287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacatccatagttgatcgaGaggtcactcctttcttcatt	10	15	6	10	1	3	2	2	1	1	1	6	3	5	2	2	1	1	1	2	1	2	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:28908287G>A	ENST00000257192.4	+	4	564	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	118	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGTTGATCGAGAGGTCACTCC	0.343													5	49					0	0	0	0	A	28908287	G	A	28908287	3	1	410	1	0	0	0	0	1	0	0	0	4812	943	33	2	366	2	DSG1	18	28908287	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	19348810	28908287	49168961	142	82175											
DCC	1630	broad.mit.edu	37	chr18	50976938	50976938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacagcaacctgcttGtgatcattgtggtcaccgtt	11	11	10	9	1	2	3	2	1	0	2	2	3	2	3	2	1	4	3	2	1	3	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:50976938G>T	ENST00000442544.2	+	23	3914	c.3298G>T	c.(3298-3300)Gtg>Ttg	p.V1100L	DCC_ENST00000581580.1_Missense_Mutation_p.V735L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1100					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAACCTGCTTGTGATCATTGT	0.527													5	63					0.000602214	0.000602214	1	0	T	50976938	G	T	50976938	3	4	410	1	0	0	0	0	1	0	0	0	4314	1377	48	4	3388	4	DCC	18	50976938	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	22068651	50976938	27100310	143	82176											
ZNF236	7776	broad.mit.edu	37	chr18	74637271	74637271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattgcgagctgcgtttccGtacctcgggtagaagaaaga	10	9	13	9	4	0	3	0	0	0	3	2	4	1	3	2	1	4	5	2	1	4	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:74637271G>A	ENST00000253159.8	+	22	3980	c.3782G>A	c.(3781-3783)cGt>cAt	p.R1261H	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1263H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1261					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTGCGTTTCCGTACCTCGGGT	0.537													10	56					0	0	0	0	A	74637271	G	A	74637271	3	1	410	1	0	0	0	0	1	0	0	0	17884	1145	40	1	3868	1	ZNF236	18	74637271	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	23660333	74637271	3439977	144	82177											
SHD	56961	broad.mit.edu	37	chr19	4283194	4283194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcagatgagtatgatCagccctgggagtggaagaaa	13	6	15	7	0	1	4	1	2	0	2	1	6	1	6	2	3	2	2	2	3	3	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:4283194C>A	ENST00000543264.2	+	3	2010	c.547C>A	c.(547-549)Cag>Aag	p.Q183K	SHD_ENST00000599689.1_Missense_Mutation_p.Q183K	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	183										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGTATGATCAGCCCTGGGA	0.577													10	55					3.86212e-05	3.95236e-05	1	0	A	4283194	C	A	4283194	3	1	410	1	0	0	0	0	1	0	0	0	14363	827	29	2	557	2	SHD	19	4283194	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08		4283194	54845789	145	82178											
MUC16	94025	broad.mit.edu	37	chr19	9076139	9076139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgtgaggtagctgggctGatcatggtttccaaagtgag	10	11	14	6	0	1	3	1	3	0	0	2	3	2	3	1	3	2	4	1	3	3	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:9076139G>A	ENST00000397910.4	-	3	11510	c.11307C>T	c.(11305-11307)atC>atT	p.I3769I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3770	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCTGGGCTGATCATGGTTT	0.527													28	113					0	0	0	0	A	9076139	G	A	9076139	2	1	410	1	0	0	0	0	0	0	0	1	10043	1280	45	2		2	MUC16	19	9076139	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	4792945	9076139	50052844	146	82179											
KANK2	25959	broad.mit.edu	37	chr19	11280795	11280795	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctccttgtggccgtgctCacaggcgcacatgagggccg	6	8	14	13	3	2	1	1	1	1	0	3	2	2	1	3	3	1	2	3	3	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:11280795C>A	ENST00000432929.2	-	11	2725	c.2365G>T	c.(2365-2367)Gag>Tag	p.E789*	KANK2_ENST00000589359.1_Nonsense_Mutation_p.E789*|KANK2_ENST00000589894.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000586659.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000355150.5_Nonsense_Mutation_p.E781*|KANK2_ENST00000587317.1_5'UTR	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	781										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGCCGTGCTCACAGGCGCAC	0.647													18	88					1.02788e-11	1.09808e-11	1	0	A	11280795	C	A	11280795	4	1	410	1	0	0	0	0	0	1	0	0	8030	835	29	2	226	2	KANK2	19	11280795	Nonsense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	2204656	11280795	47848188	147	82180											
ZNF257	113835	broad.mit.edu	37	chr19	22272184	22272184	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagagaaccccaacaaAtatgaagaatgtggcaaagc	17	5	11	8	0	0	3	0	1	0	2	0	5	0	4	2	2	3	2	2	2	7	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:22272184A>T	ENST00000594947.1	+	4	1776	c.1632A>T	c.(1630-1632)aaA>aaT	p.K544N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCCCAACAAATATGAAGAAT	0.373													5	25					0	0	0	0	T	22272184	A	T	22272184	3	4	410	1	0	0	0	0	1	0	0	0	17895	98	4	5	1646	5	ZNF257	19	22272184	Missense_Mutation	SNP	A	TCGA-H7-8501-01A-11D-2394-08	10991389	22272184	36856799	148	82181											
GDF5	8200	broad.mit.edu	37	chr20	34022455	34022455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcccgcctccgggggccGctggcttggccgtgtccgag	1	6	16	18	6	0	0	0	0	0	0	2	1	2	0	7	4	0	2	7	4	0	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:34022455G>A	ENST00000374372.1	-	4	1261	c.758C>T	c.(757-759)gCg>gTg	p.A253V	GDF5_ENST00000374369.3_Missense_Mutation_p.A253V|GDF5OS_ENST00000374375.1_Missense_Mutation_p.A167T			P43026	GDF5_HUMAN	growth differentiation factor 5	253					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCCGGGGGCCGCTGGCTTGGC	0.697													15	46					0	0	0	0	A	34022455	G	A	34022455	3	1	410	1	0	0	0	0	1	0	0	0	6367	1087	38	1	751	1	GDF5	20	34022455	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08		34022455	29003065	149	82182											
NCOA3	8202	broad.mit.edu	37	chr20	46271097	46271097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcctggaagaaattgacaGagctttgggcattcctgaac	12	9	12	8	0	0	4	0	2	0	2	1	5	1	5	2	3	2	2	2	3	3	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:46271097G>A	ENST00000372004.3	+	17	3437	c.3221G>A	c.(3220-3222)aGa>aAa	p.R1074K	NCOA3_ENST00000341724.6_Missense_Mutation_p.R1004K|NCOA3_ENST00000371998.3_Missense_Mutation_p.R1074K|NCOA3_ENST00000371997.3_Missense_Mutation_p.R1069K	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	1074	Interaction with CREBBP.				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			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						GAAATTGACAGAGCTTTGGGC	0.478													4	35					0	0	0	0	A	46271097	G	A	46271097	3	1	410	1	0	0	0	0	1	0	0	0	10300	942	33	2	3309	2	NCOA3	20	46271097	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	12248642	46271097	16754423	150	82183											
ADNP	23394	broad.mit.edu	37	chr20	49509600	49509600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctgctgcaatgtcaaatCaaaactcaaagtagaatctg	16	9	6	10	0	4	1	3	0	1	1	4	1	4	1	1	0	3	3	1	0	7	1			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:49509600C>G	ENST00000396029.3	-	5	2218	c.1651G>C	c.(1651-1653)Gat>Cat	p.D551H	ADNP_ENST00000349014.3_Missense_Mutation_p.D551H|ADNP_ENST00000371602.4_Missense_Mutation_p.D551H|ADNP_ENST00000396032.3_Missense_Mutation_p.D551H	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	551						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AATGTCAAATCAAAACTCAAA	0.448													25	127					0	0	0	0	G	49509600	C	G	49509600	3	3	410	1	0	0	0	0	1	0	0	0	323	826	29	2	1661	2	ADNP	20	49509600	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	3238503	49509600	13515920	151	82184											
HSPA13	6782	broad.mit.edu	37	chr21	15750622	15750622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcattccaagatatgcctCtgccatttcctttaacttca	9	15	5	12	0	2	1	1	0	1	1	4	1	4	1	4	1	3	1	4	1	3	6			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:15750622C>T	ENST00000285667.3	-	3	545	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	160						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGATATGCCTCTGCCATTTCC	0.403													10	62					0	0	0	0	T	15750622	C	T	15750622	3	4	410	1	0	0	0	0	1	0	0	0	7458	922	32	2	949	2	HSPA13	21	15750622	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08		15750622	32379273	152	82185											
TIAM1	7074	broad.mit.edu	37	chr21	32595799	32595799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtcgacttgcaaaagcgaGaagccttttggggtttggca	9	11	14	7	2	0	1	0	0	0	1	1	3	0	1	1	4	3	3	1	4	3	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:32595799G>A	ENST00000286827.3	-	9	2389	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.L640F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	640					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.L640I(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCAAAAGCGAGAAGCCTTTTG	0.498													31	71					0	0	0	0	A	32595799	G	A	32595799	3	1	410	1	0	0	0	0	1	0	0	0	15984	942	33	2	2941	2	TIAM1	21	32595799	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	16845177	32595799	15534096	153	82186											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057392	46057392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgactcttggcgggtaGtcgactgcccagagagctgc	7	8	14	12	2	1	2	0	1	1	1	2	4	1	2	1	2	3	3	1	2	1	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:46057392G>A	ENST00000380095.1	+	1	120	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	20			V -> D (in dbSNP:rs2838602).			keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGGCGGGTAGTCGACTGCCC	0.667													36	123					0	0	0	0	A	46057392	G	A	46057392	3	1	410	1	0	0	0	0	1	0	0	0	8558	1029	36	4	60	4	KRTAP10-10	21	46057392	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	13461593	46057392	2072503	154	82187											
CECR2	27443	broad.mit.edu	37	chr22	18018385	18018385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcttggaacctgtggatGaatcttatgcccctaactat	9	14	7	11	0	2	1	0	1	2	0	2	3	2	3	4	2	3	0	4	2	5	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:18018385G>A	ENST00000262608.8	+	11	1270	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	CECR2_ENST00000342247.5_Missense_Mutation_p.E395K|CECR2_ENST00000400585.2_Missense_Mutation_p.E282K|CECR2_ENST00000400573.4_Missense_Mutation_p.E423K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	465					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ACCTGTGGATGAATCTTATGC	0.403													21	53					0	0	0	0	A	18018385	G	A	18018385	3	1	410	1	0	0	0	0	1	0	0	0	3235	1291	45	2	1311	2	CECR2	22	18018385	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08		18018385	33286181	155	82188											
MORC2	22880	broad.mit.edu	37	chr22	31337485	31337485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatggatgaagatcctCatccggggatcaatatagag	12	9	11	9	1	2	3	2	1	0	2	4	5	4	5	3	3	1	0	3	3	4	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:31337485C>A	ENST00000215862.4	-	10	1936	c.573G>T	c.(571-573)atG>atT	p.M191I	MORC2_ENST00000397641.2_Missense_Mutation_p.M253I|MORC2_ENST00000469915.1_5'UTR	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	253							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGAAGATCCTCATCCGGGGAT	0.597													16	35					6.31663e-08	6.65068e-08	1	0	A	31337485	C	A	31337485	3	1	410	1	0	0	0	0	1	0	0	0	9772	826	29	2	2411	2	MORC2	22	31337485	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	13319100	31337485	19967081	156	82189											
MYH9	4627	broad.mit.edu	37	chr22	36745144	36745144	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcgcccacctcctccttGaggctggctggctcaaagcc	5	10	9	17	1	2	1	1	1	1	0	5	1	4	1	5	3	1	3	5	3	1	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:36745144G>C	ENST00000216181.5	-	2	368	c.138C>G	c.(136-138)ctC>ctG	p.L46L	MYH9_ENST00000401701.1_Silent_p.L46L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	46	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCTCCTTGAGGCTGGCTG	0.557			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				11	52					0	0	0	0	C	36745144	G	C	36745144	2	2	410	1	0	0	0	0	0	0	0	1	10112	1277	45	2		2	MYH9	22	36745144	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	5407659	36745144	14559422	157	82190											
MYH9	4627	broad.mit.edu	37	chr22	36745252	36745252	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagtttttatccacataGagatacttatcggcagcttg	12	14	8	7	1	0	2	0	1	0	1	2	3	1	2	1	1	2	3	1	1	5	7			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:36745252G>C	ENST00000216181.5	-	2	260	c.30C>G	c.(28-30)ctC>ctG	p.L10L	MYH9_ENST00000401701.1_Silent_p.L10L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	10	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TATCCACATAGAGATACTTAT	0.522			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				10	36					0	0	0	0	C	36745252	G	C	36745252	2	2	410	1	0	0	0	0	0	0	0	1	10112	929	33	2		2	MYH9	22	36745252	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	108	36745252	14559314	158	82191											
ARFGAP3	26286	broad.mit.edu	37	chr22	43213818	43213818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatcttttcgtctttcttCatttgaatttcaagatcctt	7	22	3	9	1	6	2	3	1	3	1	8	2	7	2	1	0	0	0	1	0	2	8			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:43213818C>T	ENST00000263245.5	-	10	1077	c.858G>A	c.(856-858)atG>atA	p.M286I	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.M214I|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.M242I	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	286					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						cgtctttcttcatttgaattt	0.343													20	95					0	0	0	0	T	43213818	C	T	43213818	3	4	410	1	0	0	0	0	1	0	0	0	853	826	29	2	720	2	ARFGAP3	22	43213818	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	6468566	43213818	8090748	159	82192											
MOV10L1	54456	broad.mit.edu	37	chr22	50553671	50553671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtggtcatctgtgacGgaaagtaagggcctggaggt	9	11	15	6	1	3	1	2	1	1	0	3	3	3	3	1	5	0	1	1	5	2	2			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:50553671G>A	ENST00000262794.5	+	8	1338	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G419R|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G419R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G399R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	419					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.G419*(1)|p.G399*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATCTGTGACGGAAAGTAAGG	0.498													27	130					0	0	0	0	A	50553671	G	A	50553671	3	1	410	1	0	0	0	0	1	0	0	0	9789	1117	39	1	1326	1	MOV10L1	22	50553671	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	7339853	50553671	750895	160	82193											
USP11	8237	broad.mit.edu	37	chrX	47107270	47107270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggccggctcatctggcGccccagcctcccctgcctgc	2	6	10	23	3	2	0	1	0	1	0	3	0	3	0	9	3	3	1	9	3	0	0			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:47107270G>T	ENST00000377107.2	+	21	3058	c.2704G>T	c.(2704-2706)Gcc>Tcc	p.A902S	USP11_ENST00000218348.3_Missense_Mutation_p.A945S			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	945					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCATCTGGCGCCCCAGCCTC	0.602													10	7					1.33987e-11	1.42443e-11	1	0	T	47107270	G	T	47107270	3	4	410	1	0	0	0	0	1	0	0	0	17138	1087	38	3	2915	3	USP11	23	47107270	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08		47107270	108163290	161	82194											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220374	130220374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggaagcacttgattttatCagacgcaggaacttgaggaa	13	9	11	8	2	1	3	1	2	0	1	1	6	1	6	1	3	2	2	1	3	4	4			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:130220374C>G	ENST00000276211.5	+	10	1698	c.1353C>G	c.(1351-1353)atC>atG	p.I451M	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I315M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I439M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	451					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			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						TTGATTTTATCAGACGCAGGA	0.478													24	28					0	0	0	0	G	130220374	C	G	130220374	3	3	410	1	0	0	0	0	1	0	0	0	885	816	29	2	1387	2	ARHGAP36	23	130220374	Missense_Mutation	SNP	C	TCGA-H7-8501-01A-11D-2394-08	83113104	130220374	25050186	162	82195											
MCF2	4168	broad.mit.edu	37	chrX	138664652	138664652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatataggagagccatctccGacacaggtctctacaaggga	14	7	10	10	1	2	1	0	0	2	1	4	4	2	2	2	3	2	0	2	3	5	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:138664652G>A	ENST00000520602.1	-	28	3221	c.2936C>T	c.(2935-2937)tCg>tTg	p.S979L	MCF2_ENST00000519895.1_Missense_Mutation_p.S995L|MCF2_ENST00000338585.6_Missense_Mutation_p.S935L|MCF2_ENST00000414978.1_Missense_Mutation_p.S979L|MCF2_ENST00000370578.4_Missense_Mutation_p.S1064L|MCF2_ENST00000370573.4_Missense_Mutation_p.R845W|MCF2_ENST00000370576.4_Missense_Mutation_p.S919L|MCF2_ENST00000536274.1_Missense_Mutation_p.R806W			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	919					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGCCATCTCCGACACAGGTCT	0.448													3	37					0	0	0	0	A	138664652	G	A	138664652	3	1	410	1	0	0	0	0	1	0	0	0	9447	1059	37	1	53	1	MCF2	23	138664652	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	8444278	138664652	16605908	163	82196											
CNGA2	1260	broad.mit.edu	37	chrX	150912151	150912151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggctaagatcgatgccgtGaaacactacatgcagttccg	12	8	10	11	3	0	2	0	1	0	1	2	3	1	2	2	1	4	3	2	1	3	3			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:150912151G>A	ENST00000329903.4	+	6	1209	c.1176G>A	c.(1174-1176)gtG>gtA	p.V392V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	392					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCGATGCCGTGAAACACTACA	0.512													20	41					0	0	0	0	A	150912151	G	A	150912151	2	1	410	1	0	0	0	0	0	0	0	1	3627	1277	45	2		2	CNGA2	23	150912151	Silent	SNP	G	TCGA-H7-8501-01A-11D-2394-08	12247499	150912151	4358409	164	82197											
CNGA2	1260	broad.mit.edu	37	chrX	150912215	150912215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaggtcattaggtggtttGactacttgtggaccaataag	11	12	11	7	0	1	1	1	1	0	0	1	2	1	2	2	4	1	1	2	4	5	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:150912215G>C	ENST00000329903.4	+	6	1273	c.1240G>C	c.(1240-1242)Gac>Cac	p.D414H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	414					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGTGGTTTGACTACTTGTG	0.502													15	21					0	0	0	0	C	150912215	G	C	150912215	3	2	410	1	0	0	0	0	1	0	0	0	3627	1290	45	2	1262	2	CNGA2	23	150912215	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08	64	150912215	4358345	165	82198											
TBL1Y	90665	broad.mit.edu	37	chrY	6955318	6955318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctcctagtgcttcatttGattctacagtgcgactgtgg	7	15	9	10	1	2	1	1	1	1	0	4	2	4	1	2	1	3	1	2	1	2	5			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrY:6955318G>C	ENST00000383032.1	+	17	1938	c.1291G>C	c.(1291-1293)Gat>Cat	p.D431H	TBL1Y_ENST00000346432.3_Missense_Mutation_p.D431H|TBL1Y_ENST00000355162.2_Missense_Mutation_p.D431H	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	431					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGCTTCATTTGATTCTACAGT	0.468													13	11					0	0	0	0	C	6955318	G	C	6955318	3	2	410	1	0	0	0	0	1	0	0	0	15735	1290	45	2	1337	2	TBL1Y	24	6955318	Missense_Mutation	SNP	G	TCGA-H7-8501-01A-11D-2394-08		6955318	52418248	166	82199											
CROCC	9696	broad.mit.edu	37	chr1	17296411	17296411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtggaggccgagggccaGctacaacagctacgggaggt	9	4	18	10	3	0	0	0	0	0	0	0	3	0	2	2	6	5	2	2	6	3	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:17296411G>A	ENST00000375541.5	+	33	5502	c.5433G>A	c.(5431-5433)caG>caA	p.Q1811Q		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1811					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCGAGGGCCAGCTACAACAGC	0.662													11	65					0	0	0	0	A	17296411	G	A	17296411	2	1	411	1	0	0	0	0	0	0	0	1	3923	962	34	4		4	CROCC	1	17296411	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		17296411	231954210	1	82200											
EIF4G3	8672	broad.mit.edu	37	chr1	21205843	21205843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacatcgacacatgtttgcGtaagccacagagaaactggg	14	7	11	9	2	0	2	0	0	0	2	1	4	0	2	1	1	3	2	1	1	2	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:21205843G>A	ENST00000602326.1	-	18	3028	c.2445C>T	c.(2443-2445)taC>taT	p.Y815Y	EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000264211.8_Silent_p.Y809Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y|EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	809	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATGTTTGCGTAAGCCACAG	0.443													5	194					0	0	0	0	A	21205843	G	A	21205843	2	1	411	1	0	0	0	0	0	0	0	1	5076	1140	40	1		1	EIF4G3	1	21205843	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	3909432	21205843	228044778	2	82201											
DPYD	1806	broad.mit.edu	37	chr1	98058845	98058845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacggcgagctccacaacGtagagcagatgttgcacagt	12	6	11	12	3	0	2	0	0	0	2	1	3	1	2	1	1	4	5	1	1	2	2	rs143154602		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:98058845G>A	ENST00000370192.3	-	10	1157	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	353					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCTCCACAACGTAGAGCAGAT	0.483													30	89					0	0	0	0	A	98058845	G	A	98058845	3	1	411	1	0	0	0	0	1	0	0	0	4781	1145	40	1	2076	1	DPYD	1	98058845	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	76853002	98058845	151191776	3	82202											
MAGI3	260425	broad.mit.edu	37	chr1	114184787	114184787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccaggagcaatggttctgGagcagaatggaaaatcggga	14	6	15	6	1	1	1	0	0	1	1	2	5	1	5	1	5	3	3	1	5	4	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:114184787G>A	ENST00000369615.1	+	10	1677	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	MAGI3_ENST00000369611.4_Missense_Mutation_p.E539K|MAGI3_ENST00000307546.9_Missense_Mutation_p.E539K|MAGI3_ENST00000369617.4_Missense_Mutation_p.E564K	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	564					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		AATGGTTCTGGAGCAGAATGG	0.488													7	124					0	0	0	0	A	114184787	G	A	114184787	3	1	411	1	0	0	0	0	1	0	0	0	9261	1175	41	2	1653	2	MAGI3	1	114184787	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	16125942	114184787	135065834	4	82203											
FLG	2312	broad.mit.edu	37	chr1	152284304	152284304	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcctgttcatgggatgAcgcagcctgtccaccagagg	7	10	12	12	1	2	2	1	1	1	1	3	3	3	3	4	2	2	2	4	2	0	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:152284304A>C	ENST00000368799.1	-	3	3093	c.3058T>G	c.(3058-3060)Tca>Gca	p.S1020A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1020	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGGATGACGCAGCCTGT	0.582									Ichthyosis				23	748					0	0	0	0	C	152284304	A	C	152284304	3	2	411	1	0	0	0	0	1	0	0	0	5967	275	10	5	9131	5	FLG	1	152284304	Missense_Mutation	SNP	A	TCGA-H7-A6C4-01A-11D-A30E-08	38099517	152284304	96966317	5	82204											
SOAT1	6646	broad.mit.edu	37	chr1	179322747	179322747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggattatgtccggccaCgttcctggacttgtcgttac	5	16	10	10	3	0	0	0	0	0	0	3	2	2	2	3	3	1	2	3	3	2	6			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:179322747C>T	ENST00000367619.3	+	16	1767	c.1624C>T	c.(1624-1626)Cgt>Tgt	p.R542C	SOAT1_ENST00000539888.1_Missense_Mutation_p.R477C|SOAT1_ENST00000540564.1_Missense_Mutation_p.R484C|SOAT1_ENST00000535686.1_Missense_Mutation_p.R278C	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	542					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGTCCGGCCACGTTCCTGGAC	0.458													4	149					0	0	0	0	T	179322747	C	T	179322747	3	4	411	1	0	0	0	0	1	0	0	0	14998	536	19	1	1682	1	SOAT1	1	179322747	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	27038443	179322747	69927874	6	82205											
ASAP2	8853	broad.mit.edu	37	chr2	9519164	9519164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgcctcaagttgctcctgCgggggaaggcctccatcgag	7	8	14	12	2	1	0	1	0	0	0	4	2	3	1	4	3	3	2	4	3	2	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:9519164C>T	ENST00000281419.3	+	19	2264	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	ASAP2_ENST00000315273.4_Missense_Mutation_p.R642W	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	642					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGCTCCTGCGGGGGAAGGC	0.652													9	41					0	0	0	0	T	9519164	C	T	9519164	3	4	411	1	0	0	0	0	1	0	0	0	1015	759	27	1	1998	1	ASAP2	2	9519164	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08		9519164	233680209	7	82206											
BIRC6	57448	broad.mit.edu	37	chr2	32715162	32715162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcccaatactttgctccGgacatggtgccttgtgcttc	6	14	9	12	1	0	0	0	0	0	0	3	1	2	1	3	2	4	3	3	2	3	5			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:32715162G>A	ENST00000421745.2	+	43	8284	c.8150G>A	c.(8149-8151)cGg>cAg	p.R2717Q		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2717					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)					ACTTTGCTCCGGACATGGTGC	0.343													4	161					0	0	0	0	A	32715162	G	A	32715162	3	1	411	1	0	0	0	0	1	0	0	0	1443	1116	39	1	8320	1	BIRC6	2	32715162	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	23195998	32715162	210484211	8	82207											
CRIM1	51232	broad.mit.edu	37	chr2	36691743	36691743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatccactccccgcatagtCtctcgtggcgatgggacacc	7	8	11	15	3	1	0	0	0	1	0	5	3	3	2	4	3	0	1	4	3	1	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:36691743C>T	ENST00000280527.2	+	5	1303	c.936C>T	c.(934-936)gtC>gtT	p.V312V		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	312					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCCGCATAGTCTCTCGTGGCG	0.498													51	197					0	0	0	0	T	36691743	C	T	36691743	2	4	411	1	0	0	0	0	0	0	0	1	3903	900	32	2		2	CRIM1	2	36691743	Silent	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	3976581	36691743	206507630	9	82208											
XPO1	7514	broad.mit.edu	37	chr2	61715378	61715378	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacagttcgcatacttctAatcaatggttgctttgtaac	10	17	6	8	1	2	0	1	0	1	0	3	0	2	0	0	1	4	5	0	1	5	9			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:61715378A>C	ENST00000401558.2	-	19	2962	c.2235T>G	c.(2233-2235)atT>atG	p.I745M	XPO1_ENST00000404992.2_Missense_Mutation_p.I745M|XPO1_ENST00000406957.1_Missense_Mutation_p.I745M	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	745					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GCATACTTCTAATCAATGGTT	0.363			Mis		CLL								21	83					0	0	0	0	C	61715378	A	C	61715378	3	2	411	1	0	0	0	0	1	0	0	0	17541	358	13	5	1008	5	XPO1	2	61715378	Missense_Mutation	SNP	A	TCGA-H7-A6C4-01A-11D-A30E-08	25023635	61715378	181483995	10	82209											
WDR33	55339	broad.mit.edu	37	chr2	128477018	128477018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggggcggcccctgctGactttgtgagcctggaggcc	3	8	16	14	1	0	2	0	2	0	0	0	3	0	3	5	5	2	1	5	5	0	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:128477018G>T	ENST00000322313.4	-	16	2739	c.2581C>A	c.(2581-2583)Cag>Aag	p.Q861K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	861					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGCCCCTGCTGACTTTGTGAG	0.652													20	102					2.94398e-08	3.05302e-08	1	0	T	128477018	G	T	128477018	3	4	411	1	0	0	0	0	1	0	0	0	17383	1299	45	2	1457	2	WDR33	2	128477018	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	66761640	128477018	114722355	11	82210											
TMEM198	130612	broad.mit.edu	37	chr2	220409504	220409504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgccccctgagccagatGatgccttctggggtgcacct	5	10	12	14	0	1	3	0	2	1	1	1	3	1	3	5	2	5	2	5	2	0	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:220409504G>A	ENST00000344458.2	+	3	640	c.55G>A	c.(55-57)Gat>Aat	p.D19N	TMEM198_ENST00000373883.3_Missense_Mutation_p.D19N			Q66K66	TM198_HUMAN	transmembrane protein 198	19						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGAGCCAGATGATGCCTTCTG	0.592													5	98					0	0	0	0	A	220409504	G	A	220409504	3	1	411	1	0	0	0	0	1	0	0	0	16213	1290	45	2	57	2	TMEM198	2	220409504	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	91932486	220409504	22789869	12	82211											
FBXW12	285231	broad.mit.edu	37	chr3	48415161	48415161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggttggcattggcacagccGcataactttatctacaaagt	11	11	9	10	2	1	0	0	0	1	0	1	0	1	0	1	3	3	4	1	3	4	6			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:48415161G>A	ENST00000296438.5	+	4	438	c.252G>A	c.(250-252)ccG>ccA	p.P84P	FBXW12_ENST00000445170.1_Silent_p.P65P|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Silent_p.P84P	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	84										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGCACAGCCGCATAACTTTA	0.448													4	81					0	0	0	0	A	48415161	G	A	48415161	2	1	411	1	0	0	0	0	0	0	0	1	5810	1074	38	1		1	FBXW12	3	48415161	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		48415161	149607269	13	82212											
MST1	4485	broad.mit.edu	37	chr3	49721622	49721622	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgggcccccgtagtcacCctggcaggtaggagaactga	10	6	14	11	1	1	2	1	1	0	1	1	3	1	2	3	4	1	3	3	4	4	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:49721622C>T	ENST00000449682.2	-	18	2378	c.2016_splice	c.e18-1	p.G673_splice		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	659	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTAGTCACCCTGGCAGGTA	0.567													4	40					0	0	0	0	T	49721622	C	T	49721622	5	4	411	1	0	0	0	0	0	0	1	0	9960	637	22	4	164	4	MST1	3	49721622	Splice_Site	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	1306461	49721622	148300808	14	82213											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133024	119133024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcctgcacccagacctcGccagcctggctcctctggaa	7	6	11	17	1	1	1	0	0	1	1	3	2	2	2	6	3	2	2	6	3	1	0			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:119133024G>A	ENST00000264245.4	+	12	2780	c.2248G>A	c.(2248-2250)Gcc>Acc	p.A750T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	750	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.A750T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCAGACCTCGCCAGCCTGGC	0.592													11	128					0	0	0	0	A	119133024	G	A	119133024	3	1	411	1	0	0	0	0	1	0	0	0	882	1087	38	1	2294	1	ARHGAP31	3	119133024	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	69411402	119133024	78889406	15	82214											
MUC4	4585	broad.mit.edu	37	chr3	195507062	195507062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggatgctgaggaagtgtCggtgacaggaagaggggtgg	9	8	21	3	1	0	3	0	2	0	1	1	6	0	6	0	7	1	1	0	7	2	0	rs74208457		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:195507062C>T	ENST00000463781.3	-	2	11848	c.11389G>A	c.(11389-11391)Gac>Aac	p.D3797N	MUC4_ENST00000475231.1_Missense_Mutation_p.D3797N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	580					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.607													2	2					0	0	0	0	T	195507062	C	T	195507062	3	4	411	1	0	0	0	0	1	0	0	0	10048	884	31	1		1	MUC4	3	195507062	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	76374038	195507062	2515368	16	82215											
RGS12	6002	broad.mit.edu	37	chr4	3429890	3429890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagctccagaaaccactcGgctacggtaattccccaccc	10	7	6	18	2	0	1	0	0	0	1	4	1	3	1	6	2	3	3	6	2	3	3			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr4:3429890G>A	ENST00000336727.3	+	15	4309	c.3405G>A	c.(3403-3405)tcG>tcA	p.S1135S	RGS12_ENST00000306648.7_Silent_p.S533S|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000538395.1_Silent_p.S477S|RGS12_ENST00000382788.3_Silent_p.S1135S|RGS12_ENST00000344733.5_Silent_p.S1135S|RGS12_ENST00000338806.4_Silent_p.S487S	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1135						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAAACCACTCGGCTACGGTAA	0.562													4	156					0	0	0	0	A	3429890	G	A	3429890	2	1	411	1	0	0	0	0	0	0	0	1	13378	1103	39	1		1	RGS12	4	3429890	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		3429890	187724386	17	82216											
STK32B	55351	broad.mit.edu	37	chr4	5461873	5461873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgtccagccttcatgAcatacagagcgtgccctact	8	9	9	15	3	1	2	1	1	0	1	2	2	2	2	4	0	5	0	4	0	2	3			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr4:5461873A>G	ENST00000282908.5	+	9	1249	c.827A>G	c.(826-828)gAc>gGc	p.D276G	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.D199G|STK32B_ENST00000510398.1_Missense_Mutation_p.D229G	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	276	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			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						AGCCTTCATGACATACAGAGC	0.562											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	80					0	0	0	0	G	5461873	A	G	5461873	3	3	411	1	0	0	0	0	1	0	0	0	15388	275	10	5	861	5	STK32B	4	5461873	Missense_Mutation	SNP	A	TCGA-H7-A6C4-01A-11D-A30E-08	2031983	5461873	185692403	18	82217											
GRXCR1	389207	broad.mit.edu	37	chr4	42895339	42895339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacggaaagtccggtttcGgatcgcgtcctctcacagtg	7	9	12	13	5	1	0	1	0	1	0	6	2	3	2	3	3	0	1	3	3	1	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr4:42895339G>A	ENST00000399770.2	+	1	56	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCGGTTTCGGATCGCGTCC	0.512													22	138					0	0	0	0	A	42895339	G	A	42895339	3	1	411	1	0	0	0	0	1	0	0	0	6862	1116	39	1	58	1	GRXCR1	4	42895339	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	37433466	42895339	148258937	19	82218											
PRDM9	56979	broad.mit.edu	37	chr5	23509593	23509593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctaggtcaaagatgccttCaaagacatttccatatactt	13	13	5	10	0	3	2	2	0	1	2	4	2	4	2	2	1	2	0	2	1	5	6			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:23509593C>T	ENST00000296682.3	+	3	266	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	28	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGATGCCTTCAAAGACATTT	0.428										HNSCC(3;0.000094)			33	168					0	0	0	0	T	23509593	C	T	23509593	2	4	411	1	0	0	0	0	0	0	0	1	12543	825	29	2		2	PRDM9	5	23509593	Silent	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08		23509593	157405667	20	82219											
GHR	2690	broad.mit.edu	37	chr5	42713545	42713545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagatttctactttccaTggctcttaattattatcttt	8	22	3	8	0	4	1	1	0	3	1	5	1	5	1	1	1	1	1	1	1	4	8			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:42713545T>C	ENST00000230882.4	+	8	989	c.799T>C	c.(799-801)Tgg>Cgg	p.W267R	GHR_ENST00000537449.1_Missense_Mutation_p.W80R|GHR_ENST00000357703.3_Missense_Mutation_p.W245R	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	267					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTACTTTCCATGGCTCTTAAT	0.323													6	69					0	0	0	0	C	42713545	T	C	42713545	3	2	411	1	0	0	0	0	1	0	0	0	6422	1464	51	5	825	5	GHR	5	42713545	Missense_Mutation	SNP	T	TCGA-H7-A6C4-01A-11D-A30E-08	19203952	42713545	138201715	21	82220											
FEM1C	56929	broad.mit.edu	37	chr5	114878763	114878763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgtcggtttgacactTccaaatcagctttgtgttct	7	15	8	11	1	2	1	1	1	1	0	4	1	3	1	2	1	1	3	2	1	1	4			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:114878763T>C	ENST00000274457.3	-	2	989	c.428A>G	c.(427-429)gAa>gGa	p.E143G		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	143						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GTTTGACACTTCCAAATCAGC	0.403													4	121					0	0	0	0	C	114878763	T	C	114878763	3	2	411	1	0	0	0	0	1	0	0	0	5856	1783	62	5	1433	5	FEM1C	5	114878763	Missense_Mutation	SNP	T	TCGA-H7-A6C4-01A-11D-A30E-08	72165218	114878763	66036497	22	82221											
IRF1	3659	broad.mit.edu	37	chr5	131822820	131822820	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttcccctgctttgtatcGgcctagagggcaggagaaaa	9	11	11	10	1	0	2	0	0	0	2	2	3	1	2	3	3	1	3	3	3	4	5			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:131822820G>A	ENST00000245414.4	-	4	448	c.190C>T	c.(190-192)Cga>Tga	p.R64*	IRF1_ENST00000405885.2_Nonsense_Mutation_p.R64*|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	64					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCTTTGTATCGGCCTAGAGGG	0.567													6	325					0	0	0	0	A	131822820	G	A	131822820	4	1	411	1	0	0	0	0	0	1	0	0	7880	1124	39	1	815	1	IRF1	5	131822820	Nonsense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	16944057	131822820	49092440	23	82222											
FAT2	2196	broad.mit.edu	37	chr5	150891893	150891894	+	Frame_Shift_Ins	INS	-	-	GG																															gttgaccacgacagcatccaINSggcagccttcaaagccctgg																										TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:150891893_150891894insGG	ENST00000261800.5	-	20	11749_11750	c.11737_11738insCC	c.(11737-11739)ggafs	p.G3913fs	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3913	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACAGCATCCAGGCAGCCTTCA	0.599													32	110	---	---	---	---					GG	150891894	-	GG	150891893	7	5	411	1	0	1	1	0	0	0	0	0	5735	188	7	0	1327	0	FAT2	5	150891893	Frame_Shift_Ins	INS	-	TCGA-H7-A6C4-01A-11D-A30E-08	19069073	150891893	30023367	24	82223											
LHFPL5	222662	broad.mit.edu	37	chr6	35773525	35773525	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaactcgcgagccgtgggCgtgatgtggggtaccctcac	6	7	16	12	5	1	1	1	1	0	0	2	3	1	2	2	4	3	1	2	4	2	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr6:35773525C>T	ENST00000360215.1	+	1	455	c.78C>T	c.(76-78)ggC>ggT	p.G26G	LHFPL5_ENST00000373853.1_Silent_p.G26G	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	26						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GAGCCGTGGGCGTGATGTGGG	0.617													43	171					0	0	0	0	T	35773525	C	T	35773525	2	4	411	1	0	0	0	0	0	0	0	1	8822	755	27	1		1	LHFPL5	6	35773525	Silent	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08		35773525	135341542	25	82224											
TMEM63B	55362	broad.mit.edu	37	chr6	44122113	44122113	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctcaagattgagcacacGgagacagatactgtggaccc	12	6	10	13	1	1	4	1	1	0	3	1	6	1	5	3	2	2	1	3	2	2	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr6:44122113G>A	ENST00000259746.9	+	23	2421	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	TMEM63B_ENST00000323267.6_Silent_p.T746T			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	746						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TTGAGCACACGGAGACAGATA	0.632													13	91					0	0	0	0	A	44122113	G	A	44122113	2	1	411	1	0	0	0	0	0	0	0	1	16285	1103	39	1		1	TMEM63B	6	44122113	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	8348588	44122113	126992954	26	82225											
CRISP3	10321	broad.mit.edu	37	chr6	49698888	49698888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacttactgcatagtccatCgtcacagttatctgggcaac	12	11	7	11	1	2	0	1	0	1	0	4	0	3	0	1	1	4	3	1	1	5	3			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr6:49698888C>T	ENST00000433368.2	-	7	736	c.667G>A	c.(667-669)Gat>Aat	p.D223N	CRISP3_ENST00000263045.4_Missense_Mutation_p.D213N|CRISP3_ENST00000423399.2_Missense_Mutation_p.D110N|CRISP3_ENST00000371159.4_Missense_Mutation_p.D231N|CRISP3_ENST00000393666.1_Missense_Mutation_p.D200N	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	200					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CATAGTCCATCGTCACAGTTA	0.343													6	41					0	0	0	0	T	49698888	C	T	49698888	3	4	411	1	0	0	0	0	1	0	0	0	3911	884	31	1	147	1	CRISP3	6	49698888	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	5576775	49698888	121416179	27	82226											
HTR1B	3351	broad.mit.edu	37	chr6	78172192	78172192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagggtcttggtggctttgCgctccctagcggccatgagt	4	12	14	11	2	1	1	0	1	1	0	2	1	2	1	2	4	2	2	2	4	2	4			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr6:78172192C>T	ENST00000369947.2	-	1	1298	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	310					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTGGCTTTGCGCTCCCTAGC	0.522													5	306					0	0	0	0	T	78172192	C	T	78172192	3	4	411	1	0	0	0	0	1	0	0	0	7490	768	27	1	247	1	HTR1B	6	78172192	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	28473304	78172192	92942875	28	82227											
KIAA0196	9897	broad.mit.edu	37	chr8	126052082	126052082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgtttagaatcaaacCgacaagaataatttaattca	18	11	5	7	1	2	3	2	0	0	3	2	4	2	3	2	0	1	1	2	0	7	6			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr8:126052082C>T	ENST00000318410.7	-	24	3258	c.2909G>A	c.(2908-2910)cGg>cAg	p.R970Q	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R822Q	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	970					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAATCAAACCGACAAGAATA	0.423													3	48					0	0	0	0	T	126052082	C	T	126052082	3	4	411	1	0	0	0	0	1	0	0	0	8212	652	23	1	594	1	KIAA0196	8	126052082	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08		126052082	20311940	29	82228											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	22					0	0	0	0	A	21971186	G	A	21971186	4	1	411	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		21971186	119242245	30	82229											
LINGO2	158038	broad.mit.edu	37	chr9	27950551	27950551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgtgacagctaacaGatttgttctgggcagagcac	9	11	11	10	0	2	3	0	1	2	2	2	3	2	3	1	1	3	4	1	1	1	4			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr9:27950551G>T	ENST00000379992.2	-	6	568	c.119C>A	c.(118-120)tCt>tAt	p.S40Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.S40Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	40	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ACAGCTAACAGATTTGTTCTG	0.517													21	97					1.10513e-12	1.16039e-12	1	0	T	27950551	G	T	27950551	3	4	411	1	0	0	0	0	1	0	0	0	8870	942	33	2	1705	2	LINGO2	9	27950551	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	5979365	27950551	113262880	31	82230											
COQ4	51117	broad.mit.edu	37	chr9	131085368	131085368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccccacctccccgctgcaGaaagggctgttggccgccgg	5	6	12	18	3	0	1	0	0	0	1	2	1	2	1	7	3	1	4	7	3	1	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr9:131085368G>A	ENST00000300452.3	+	2	467	c.144G>A	c.(142-144)caG>caA	p.Q48Q	COQ4_ENST00000372875.3_Silent_p.Q48Q	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	48					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CCCCGCTGCAGAAAGGGCTGT	0.716													5	57					0	0	0	0	A	131085368	G	A	131085368	2	1	411	1	0	0	0	0	0	0	0	1	3777	933	33	2		2	COQ4	9	131085368	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	103134817	131085368	10128063	32	82231											
ADARB2	105	broad.mit.edu	37	chr10	1262965	1262965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcccaggtctgcactgcGctggggccacgcacggggac	5	5	15	16	4	1	0	0	0	1	0	2	1	2	1	3	5	2	3	3	5	0	0			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:1262965G>C	ENST00000381312.1	-	7	1933	c.1608C>G	c.(1606-1608)agC>agG	p.S536R	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	536	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTGCACTGCGCTGGGGCCAC	0.662													5	26					0	0	0	0	C	1262965	G	C	1262965	3	2	411	1	0	0	0	0	1	0	0	0	283	1078	38	3	627	3	ADARB2	10	1262965	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		1262965	134271782	33	82232											
GATA3	2625	broad.mit.edu	37	chr10	8100451	8100451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcgtcctcctccttgtCggggggccacgccagcccgc	2	7	13	19	4	0	0	0	0	0	0	5	0	3	0	7	4	1	0	7	4	0	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:8100451C>T	ENST00000379328.3	+	3	993	c.425C>T	c.(424-426)tCg>tTg	p.S142L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S142L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	142	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCTCCTTGTCGGGGGGCCAC	0.726			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						33	107					0	0	0	0	T	8100451	C	T	8100451	3	4	411	1	0	0	0	0	1	0	0	0	6304	893	31	1	431	1	GATA3	10	8100451	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	6837486	8100451	127434296	34	82233											
ZNF25	219749	broad.mit.edu	37	chr10	38241241	38241241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttgcatgcatagggcttCtctcctgtgtgagtcctttg	4	16	10	11	0	1	1	0	1	1	0	5	1	4	1	3	1	2	3	3	1	1	4			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:38241241C>G	ENST00000302609.7	-	6	1397	c.1185G>C	c.(1183-1185)gaG>gaC	p.E395D	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATAGGGCTTCTCTCCTGTGT	0.438													4	80					0	0	0	0	G	38241241	C	G	38241241	3	3	411	1	0	0	0	0	1	0	0	0	17889	912	32	2	189	2	ZNF25	10	38241241	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	30140790	38241241	97293506	35	82234											
JMJD1C	221037	broad.mit.edu	37	chr10	64968932	64968932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacaggaatgtgactaaGtaatccaataccatctgctg	13	11	8	9	0	2	2	0	2	2	0	3	3	3	3	2	1	2	2	2	1	5	3			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:64968932G>A	ENST00000399262.2	-	9	2976	c.2758C>T	c.(2758-2760)Ctt>Ttt	p.L920F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.L701F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L701F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L738F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	920					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATGTGACTAAGTAATCCAATA	0.423													13	74					0	0	0	0	A	64968932	G	A	64968932	3	1	411	1	0	0	0	0	1	0	0	0	8003	1029	36	4	4936	4	JMJD1C	10	64968932	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	26727691	64968932	70565815	36	82235											
SYCE1	93426	broad.mit.edu	37	chr10	135369153	135369153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcagctgctggtggcGctgggcagcagctgctagga	5	8	17	11	1	0	0	0	0	0	0	0	1	0	1	0	4	7	9	0	4	1	1	rs143005509		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:135369153G>A	ENST00000368517.3	-	11	808	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.R224C|SYCE1_ENST00000343131.5_Missense_Mutation_p.R260C	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	260					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		tgctggtggcgctgggcagca	0.652													12	51					0	0	0	0	A	135369153	G	A	135369153	3	1	411	1	0	0	0	0	1	0	0	0	15518	1087	38	1	332	1	SYCE1	10	135369153	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	70400221	135369153	165594	37	82236											
NUMA1	4926	broad.mit.edu	37	chr11	71724933	71724933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggccttccactcatcttCagccttgctgtggtcttgta	4	15	9	13	0	4	0	2	0	2	0	5	0	5	0	3	2	2	2	3	2	1	5			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr11:71724933C>G	ENST00000393695.3	-	15	3947	c.3616G>C	c.(3616-3618)Gaa>Caa	p.E1206Q	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1206Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1206					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CACTCATCTTCAGCCTTGCTG	0.607			T	RARA	APL								9	126					0	0	0	0	G	71724933	C	G	71724933	3	3	411	1	0	0	0	0	1	0	0	0	10821	835	29	2	2783	2	NUMA1	11	71724933	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08		71724933	63281583	38	82237											
USP28	57646	broad.mit.edu	37	chr11	113684607	113684607	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcaattttcattctacCtgacgaaggagaggatcgca	12	10	8	11	2	3	2	2	1	1	1	4	5	3	3	2	2	1	1	2	2	3	4			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr11:113684607C>T	ENST00000003302.4	-	15	1811	c.1743_splice	c.e15+1	p.Q581_splice	USP28_ENST00000537706.1_Silent_p.Q581Q|USP28_ENST00000545540.1_Splice_Site_p.Q456_splice|USP28_ENST00000544967.1_Splice_Site_p.Q289_splice|USP28_ENST00000260188.5_Splice_Site_p.Q581_splice	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	581					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTCATTCTACCTGACGAAGGA	0.358													3	23					0	0	0	0	T	113684607	C	T	113684607	5	4	411	1	0	0	0	0	0	0	1	0	17154	695	24	4	1534	4	USP28	11	113684607	Splice_Site	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	41959674	113684607	21321909	39	82238											
WBP11	51729	broad.mit.edu	37	chr12	14947617	14947617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttctgccagggggcaaaCgtggaacaccatgtccaaga	11	8	12	10	1	1	1	0	0	1	1	2	2	2	2	3	3	3	2	3	3	3	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:14947617C>T	ENST00000261167.2	-	7	808	c.575G>A	c.(574-576)cGt>cAt	p.R192H	WBP11_ENST00000537574.1_Missense_Mutation_p.R192H	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	192	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AGGGGGCAAACGTGGAACACC	0.488													33	144					0	0	0	0	T	14947617	C	T	14947617	3	4	411	1	0	0	0	0	1	0	0	0	17354	536	19	1	1374	1	WBP11	12	14947617	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08		14947617	118904278	40	82239											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27116352	27116352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaaattgacgagcaacaGggttgcaaggaacaagaacg	17	6	12	6	2	0	3	0	2	0	1	0	5	0	4	0	2	5	3	0	2	6	3			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:27116352G>A	ENST00000229395.3	+	6	930	c.588G>A	c.(586-588)caG>caA	p.Q196Q	FGFR1OP2_ENST00000327214.5_Silent_p.Q158Q	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	196						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					ACGAGCAACAGGGTTGCAAGG	0.373													8	57					0	0	0	0	A	27116352	G	A	27116352	2	1	411	1	0	0	0	0	0	0	0	1	5910	991	35	4		4	FGFR1OP2	12	27116352	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	12168735	27116352	106735543	41	82240											
RACGAP1	29127	broad.mit.edu	37	chr12	50395035	50395035	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactgtcggctagtagagcGctagaaaggagacaaagacc	16	5	12	8	2	0	4	0	0	0	4	1	5	0	4	1	2	2	3	1	2	6	3			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:50395035G>A	ENST00000434422.1	-	8	851	c.549_splice	c.e8-1	p.R184_splice	RACGAP1_ENST00000551016.1_Splice_Site_p.R184_splice|RACGAP1_ENST00000427314.2_Splice_Site_p.R184_splice|RACGAP1_ENST00000454520.2_Splice_Site_p.R184_splice|RACGAP1_ENST00000312377.5_Splice_Site_p.R184_splice|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000547905.1_Splice_Site_p.R184_splice			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	184	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTAGTAGAGCGCTAGAAAGGA	0.458													3	41					0	0	0	0	A	50395035	G	A	50395035	5	1	411	1	0	0	0	0	0	0	1	0	13059	1101	38	1	1392	1	RACGAP1	12	50395035	Splice_Site	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	23278683	50395035	83456860	42	82241											
PPFIA2	8499	broad.mit.edu	37	chr12	81719626	81719626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagggactcctgagctgCagcttcagtctccataaagc	9	8	9	15	0	2	1	1	1	1	0	4	2	3	2	4	1	4	3	4	1	2	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:81719626C>T	ENST00000550584.2	-	21	2867	c.2572G>A	c.(2572-2574)Gca>Aca	p.A858T	PPFIA2_ENST00000550359.2_Missense_Mutation_p.A705T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A840T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A425T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A840T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A759T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A784T|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A75T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A858T	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	784										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTGAGCTGCAGCTTCAGTC	0.423													5	30					0	0	0	0	T	81719626	C	T	81719626	3	4	411	1	0	0	0	0	1	0	0	0	12381	710	25	4	1245	4	PPFIA2	12	81719626	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	31324591	81719626	52132269	43	82242											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	10	7	12	12	1	1	1	0	1	1	1	3	4	2	3	3	4	2	2	3	4	2	1	rs146795524		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													4	151					0	0	0	0	C	125397652	T	C	125397652	2	2	411	1	0	0	0	0	0	0	0	1	16938	1625	57	5		5	UBC	12	125397652	Silent	SNP	T	TCGA-H7-A6C4-01A-11D-A30E-08	43678026	125397652	8454243	44	82243											
FOS	2353	broad.mit.edu	37	chr14	75745726	75745726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcagactacgaggcgtcatCctcccgctgcagcagcgcgt	7	6	12	16	6	1	1	1	0	0	1	3	2	3	1	2	1	4	4	2	1	1	1			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr14:75745726C>T	ENST00000303562.4	+	1	250	c.41C>T	c.(40-42)tCc>tTc	p.S14F	FOS_ENST00000556324.2_3'UTR|FOS_ENST00000535987.1_Missense_Mutation_p.S14F|FOS_ENST00000554617.1_Missense_Mutation_p.S14F|FOS_ENST00000555242.1_Missense_Mutation_p.S14F	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	14					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GAGGCGTCATCCTCCCGCTGC	0.667													5	50					0	0	0	0	T	75745726	C	T	75745726	3	4	411	1	0	0	0	0	1	0	0	0	6030	855	30	2	43	2	FOS	14	75745726	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08		75745726	31603814	45	82244											
CCDC33	80125	broad.mit.edu	37	chr15	74572368	74572368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtccttcctcttccaaggccGagatggagctaccagcttct	7	11	9	14	1	2	1	0	0	2	1	5	3	5	2	5	2	3	2	5	2	2	4			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr15:74572368G>C	ENST00000321288.5	+	10	1433	c.1433G>C	c.(1432-1434)cGa>cCa	p.R478P	CCDC33_ENST00000398814.3_Missense_Mutation_p.R275P			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	478							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTCCAAGGCCGAGATGGAGCT	0.617													3	43					0	0	0	0	C	74572368	G	C	74572368	3	2	411	1	0	0	0	0	1	0	0	0	2832	1058	37	3	854	3	CCDC33	15	74572368	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		74572368	27959024	46	82245											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	44					0	0	0	0	A	7578263	G	A	7578263	4	1	411	1	0	0	0	0	0	1	0	0	16476	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		7578263	73616947	47	82246											
DNAH9	1770	broad.mit.edu	37	chr17	11593460	11593460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaccttaaaggagctgCagactacctgggctggcatg	13	7	12	9	0	0	2	0	0	0	2	0	3	0	3	2	3	4	4	2	3	5	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:11593460C>A	ENST00000262442.3	+	20	4389	c.4321C>A	c.(4321-4323)Cag>Aag	p.Q1441K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1441K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1441	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAAGGAGCTGCAGACTACCTG	0.552													6	43					0.217242	0.217242	1	0	A	11593460	C	A	11593460	3	1	411	1	0	0	0	0	1	0	0	0	4644	711	25	4	4399	4	DNAH9	17	11593460	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	4015197	11593460	69601750	48	82247											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13399965	13399965	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcgggccgcttggacAgcgtctgcgtgtagtccgag	5	9	17	10	5	1	0	0	0	1	0	3	3	2	2	2	3	2	2	2	3	1	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:13399965A>G	ENST00000284110.1	-	2	1567	c.770T>C	c.(769-771)cTg>cCg	p.L257P	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.L55P	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	257						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCGCTTGGACAGCGTCTGCGT	0.642													7	94					0	0	0	0	G	13399965	A	G	13399965	3	3	411	1	0	0	0	0	1	0	0	0	7415	188	7	5	454	5	HS3ST3A1	17	13399965	Missense_Mutation	SNP	A	TCGA-H7-A6C4-01A-11D-A30E-08	1806505	13399965	67795245	49	82248											
TRPV2	51393	broad.mit.edu	37	chr17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-																															gctgcacttccgcggcatggTgctgctgctgctgctggcct																										TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtg>g	p.VL622del	TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	622					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596													13	141	---	---	---	---					-	16335492	TGC	-	16335490	7	5	411	1	0	1	0	1	0	0	0	0	16691	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-H7-A6C4-01A-11D-A30E-08	2935525	16335490	64859720	50	82249											
ARHGAP27	201176	broad.mit.edu	37	chr17	43474296	43474296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacctgcattcggtcgcGcgtcctcctctttctcctgc	3	12	8	18	4	2	0	0	0	2	0	7	0	4	0	4	1	2	2	4	1	0	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:43474296G>A	ENST00000532038.1	-	10	1406	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.A305V|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A619V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A624V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.A278V|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.A305V|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.A646V			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	646	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ATTCGGTCGCGCGTCCTCCTC	0.677													26	59					0	0	0	0	A	43474296	G	A	43474296	3	1	411	1	0	0	0	0	1	0	0	0	878	1087	38	1	760	1	ARHGAP27	17	43474296	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	27138806	43474296	37720914	51	82250											
HOXB2	3212	broad.mit.edu	37	chr17	46622097	46622097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctgaagggtggaggcGccgggctggaggctggggaa	6	6	22	7	2	1	1	0	1	1	0	2	4	1	4	1	9	0	2	1	9	2	0			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:46622097G>A	ENST00000330070.4	-	1	1344	c.177C>T	c.(175-177)ggC>ggT	p.G59G	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	59					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GGGTGGAGGCGCCGGGCTGGA	0.637													17	75					0	0	0	0	A	46622097	G	A	46622097	2	1	411	1	0	0	0	0	0	0	0	1	7351	1074	38	1		1	HOXB2	17	46622097	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	3147801	46622097	34573113	52	82251											
NUP85	79902	broad.mit.edu	37	chr17	73230760	73230760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgagttccaccgtatgtaCggggagaagcgttttgccga	8	9	14	10	6	0	1	0	0	0	1	1	4	1	1	3	2	3	4	3	2	3	5			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:73230760C>T	ENST00000447371.2	+	16	1564	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y	NUP85_ENST00000579324.1_Silent_p.Y436Y|NUP85_ENST00000245544.4_Silent_p.Y548Y|NUP85_ENST00000541827.1_Silent_p.Y502Y|NUP85_ENST00000540768.1_Silent_p.Y151Y|NUP85_ENST00000579298.1_Silent_p.Y503Y			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	548					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ACCGTATGTACGGGGAGAAGC	0.517													5	274					0	0	0	0	T	73230760	C	T	73230760	2	4	411	1	0	0	0	0	0	0	0	1	10841	547	19	1		1	NUP85	17	73230760	Silent	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08	26608663	73230760	7964450	53	82252											
ANO8	57719	broad.mit.edu	37	chr19	17441719	17441719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagctcagcccctctcCgcttccattcctctaggaac	7	10	6	18	1	3	0	1	0	2	0	6	1	5	1	6	1	4	2	6	1	2	3			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr19:17441719C>T	ENST00000159087.4	-	8	1069	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	304						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGCCCCTCTCCGCTTCCATTC	0.597													45	253					0	0	0	0	T	17441719	C	T	17441719	3	4	411	1	0	0	0	0	1	0	0	0	702	652	23	1	2831	1	ANO8	19	17441719	Missense_Mutation	SNP	C	TCGA-H7-A6C4-01A-11D-A30E-08		17441719	41687264	54	82253											
SIRPB1	10326	broad.mit.edu	37	chr20	1558985	1558985	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccacgctgtactcaccGcgcacagacagctcagtgcc	9	5	10	17	3	2	1	2	0	0	1	2	1	2	1	3	1	3	4	3	1	1	1	rs140632398	by1000genomes	TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr20:1558985G>A	ENST00000381605.4	-	2	496	c.433_splice	c.e2+1	p.R144_splice	SIRPB1_ENST00000381603.3_Splice_Site_p.R144_splice|SIRPB1_ENST00000262929.5_Splice_Site_p.R143_splice|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144_splice	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTACTCACCGCGCACAGACA	0.552													4	160					0	0	0	0	A	1558985	G	A	1558985	5	1	411	1	0	0	0	0	0	0	1	0	14421	1101	38	1	780	1	SIRPB1	20	1558985	Splice_Site	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		1558985	61466535	55	82254											
ACSS2	55902	broad.mit.edu	37	chr20	33508832	33508832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggattcccacatatccGgacgtgaaccgcctgtggag	9	7	14	11	3	0	1	0	1	0	0	2	5	2	4	4	4	1	0	4	4	2	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr20:33508832G>A	ENST00000360596.2	+	10	1378	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P	ACSS2_ENST00000336325.4_Silent_p.P339P|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.P402P	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	389					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACATATCCGGACGTGAACC	0.507													11	195					0	0	0	0	A	33508832	G	A	33508832	2	1	411	1	0	0	0	0	0	0	0	1	189	1103	39	1		1	ACSS2	20	33508832	Silent	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08	31949847	33508832	29516688	56	82255											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047095	46047095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaccccagcatggccGcgtccaccatgtccatccgc	6	6	7	22	3	0	0	0	0	0	0	4	0	4	0	9	1	1	1	9	1	0	0			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr21:46047095G>A	ENST00000397911.3	+	1	56	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	3						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCATGGCCGCGTCCACCAT	0.627													4	151					0	0	0	0	A	46047095	G	A	46047095	3	1	411	1	0	0	0	0	1	0	0	0	8568	1087	38	1	9	1	KRTAP10-9	21	46047095	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		46047095	2082800	57	82256											
ATP7A	538	broad.mit.edu	37	chrX	77275824	77275824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgggtcactgcttatctgcGcaacacatgttggagcagac	10	9	11	11	2	2	1	1	0	1	1	2	2	2	2	0	2	4	4	0	2	2	2			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chrX:77275824G>A	ENST00000341514.6	+	13	2865	c.2710G>A	c.(2710-2712)Gca>Aca	p.A904T	ATP7A_ENST00000343533.5_Missense_Mutation_p.A826T|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	904					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GCTTATCTGCGCAACACATGT	0.463													4	85					0	0	0	0	A	77275824	G	A	77275824	3	1	411	1	0	0	0	0	1	0	0	0	1194	1087	38	1	2756	1	ATP7A	23	77275824	Missense_Mutation	SNP	G	TCGA-H7-A6C4-01A-11D-A30E-08		77275824	77994736	58	82257											
PTPRU	10076	broad.mit.edu	37	chr1	29587213	29587213	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaactccatcattggcgaCgggccgatcgtgcgcaagga	10	6	12	13	5	1	0	1	0	0	0	3	3	2	1	3	3	2	1	3	3	2	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:29587213C>T	ENST00000356870.3	+	7	1052	c.942C>T	c.(940-942)gaC>gaT	p.D314D	PTPRU_ENST00000428026.2_Silent_p.D314D|PTPRU_ENST00000345512.3_Silent_p.D314D|PTPRU_ENST00000323874.8_Silent_p.D314D|PTPRU_ENST00000373779.3_Silent_p.D314D|PTPRU_ENST00000460170.2_Silent_p.D314D	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	314	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCATTGGCGACGGGCCGATCG	0.657													22	68					0	0	0	0	T	29587213	C	T	29587213	2	4	412	1	0	0	0	0	0	0	0	1	12895	535	19	1		1	PTPRU	1	29587213	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		29587213	219663408	1	82258											
JUN	3725	broad.mit.edu	37	chr1	59248394	59248394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagttcggccagggCgcgcacgaagccctcggcga	6	5	16	14	6	0	0	0	0	0	0	2	2	0	0	2	3	2	4	2	3	1	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:59248394C>A	ENST00000371222.2	-	1	1391	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	117					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|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|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	TCGGCCAGGGCGCGCACGAAG	0.692			A		sarcoma								45	100					1.00776e-21	1.25969e-21	1	0	A	59248394	C	A	59248394	3	1	412	1	0	0	0	0	1	0	0	0	8022	768	27	3	650	3	JUN	1	59248394	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	29661181	59248394	190002227	2	82259											
CEPT1	10390	broad.mit.edu	37	chr1	111702087	111702087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggaaacaggcaagaaGaaccaatagtagttctcctc	15	8	10	8	0	1	3	0	1	1	2	3	4	1	4	2	2	2	3	2	2	7	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:111702087G>T	ENST00000545121.1	+	3	633	c.425G>T	c.(424-426)aGa>aTa	p.R142I	CEPT1_ENST00000357172.4_Missense_Mutation_p.R142I	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	142						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	p.R142K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CAGGCAAGAAGAACCAATAGT	0.368													27	72					8.24728e-16	1.008e-15	1	0	T	111702087	G	T	111702087	3	4	412	1	0	0	0	0	1	0	0	0	3293	942	33	2	431	2	CEPT1	1	111702087	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	52453693	111702087	137548534	3	82260											
MTMR11	10903	broad.mit.edu	37	chr1	149904207	149904207	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgaaagccatttatccTcagctacagatgaatctgat	12	11	9	9	0	2	4	1	3	1	1	3	4	3	4	2	1	3	2	2	1	4	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:149904207T>A	ENST00000439741.2	-	11	1251	c.1001A>T	c.(1000-1002)gAg>gTg	p.E334V	MTMR11_ENST00000369140.3_Missense_Mutation_p.E262V|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.E306V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	334	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCATTTATCCTCAGCTACAGA	0.448													42	118					0	0	0	0	A	149904207	T	A	149904207	3	1	412	1	0	0	0	0	1	0	0	0	10010	1551	54	5	1195	5	MTMR11	1	149904207	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	38202120	149904207	99346414	4	82261											
USP21	27005	broad.mit.edu	37	chr1	161133693	161133693	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtgggccagttgaaaagTtgtctcaagtgccaggcctg	8	12	13	8	0	1	1	1	1	1	0	2	1	1	1	3	2	1	2	3	2	3	3	rs144266041		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:161133693T>C	ENST00000368002.3	+	9	1517	c.1140T>C	c.(1138-1140)agT>agC	p.S380S	USP21_ENST00000368001.1_Silent_p.S380S|USP21_ENST00000289865.8_Silent_p.S380S|USP21_ENST00000487163.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	380					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTTGAAAAGTTGTCTCAAGT	0.502													34	99					0	0	0	0	C	161133693	T	C	161133693	2	2	412	1	0	0	0	0	0	0	0	1	17149	1722	60	5		5	USP21	1	161133693	Silent	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	11229486	161133693	88116928	5	82262											
PLEKHA6	22874	broad.mit.edu	37	chr1	204236637	204236637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcagcgatccaccaggacGaaccagcgcttgttccactg	10	6	11	14	3	0	0	0	0	0	0	2	3	2	1	4	2	3	3	4	2	1	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:204236637G>A	ENST00000272203.3	-	5	562	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PLEKHA6_ENST00000414478.1_Silent_p.F82F	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH.							p.F82L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCACCAGGACGAACCAGCGCT	0.587													32	61					0	0	0	0	A	204236637	G	A	204236637	2	1	412	1	0	0	0	0	0	0	0	1	12132	1049	37	1		1	PLEKHA6	1	204236637	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	43102944	204236637	45013984	6	82263											
RPS6KC1	26750	broad.mit.edu	37	chr1	213405594	213405594	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgtgctgcagcatgcGgaaggttggtttgtagtttg	5	17	14	5	1	1	0	0	0	1	0	1	1	1	1	0	3	4	7	0	3	2	6			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:213405594G>A	ENST00000366960.3	+	10	1371	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.A395A|RPS6KC1_ENST00000543354.1_Silent_p.A110A|RPS6KC1_ENST00000543470.1_Silent_p.A195A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	407	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGCAGCATGCGGAAGGTTGGT	0.438													4	210					0	0	0	0	A	213405594	G	A	213405594	2	1	412	1	0	0	0	0	0	0	0	1	13743	1103	39	1		1	RPS6KC1	1	213405594	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	9168957	213405594	35845027	7	82264											
KCTD3	51133	broad.mit.edu	37	chr1	215752352	215752352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttataggtattcctaGtcgtaaaataaacaacacag	15	13	5	8	1	1	0	0	0	1	0	4	0	2	0	1	1	2	2	1	1	9	8			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:215752352G>T	ENST00000259154.4	+	7	701	c.407G>T	c.(406-408)aGt>aTt	p.S136I		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	136						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			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)		GGTATTCCTAGTCGTAAAATA	0.348													6	18					0.00116845	0.00122798	1	0	T	215752352	G	T	215752352	3	4	412	1	0	0	0	0	1	0	0	0	8163	1029	36	4	433	4	KCTD3	1	215752352	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	2346758	215752352	33498269	8	82265											
USH2A	7399	broad.mit.edu	37	chr1	216371878	216371878	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcctcagatgtggtttctTtagtagatctcagtcttctc	6	19	7	9	0	5	2	2	0	4	2	8	2	6	2	1	1	0	2	1	1	2	6			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:216371878T>A	ENST00000366943.2	-	18	4246	c.3860A>T	c.(3859-3861)aAa>aTa	p.K1287I	USH2A_ENST00000307340.3_Missense_Mutation_p.K1287I|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.K1287I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1287	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGGTTTCTTTAGTAGATCT	0.368										HNSCC(13;0.011)			15	38					0	0	0	0	A	216371878	T	A	216371878	3	1	412	1	0	0	0	0	1	0	0	0	17132	1841	64	5	11982	5	USH2A	1	216371878	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	619526	216371878	32878743	9	82266											
TLR5	7100	broad.mit.edu	37	chr1	223284505	223284505	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaccttccgtggaaagAgagaagagggaaaccccaga	16	4	11	10	1	1	4	1	0	0	4	2	7	2	6	4	2	2	0	4	2	4	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:223284505A>G	ENST00000540964.1	-	4	2330	c.1869T>C	c.(1867-1869)tcT>tcC	p.S623S	TLR5_ENST00000342210.6_Silent_p.S623S			O60602	TLR5_HUMAN	toll-like receptor 5	623			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCGTGGAAAGAGAGAAGAGGG	0.448													23	33					0	0	0	0	G	223284505	A	G	223284505	2	3	412	1	0	0	0	0	0	0	0	1	16048	291	11	5		5	TLR5	1	223284505	Silent	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08	6912627	223284505	25966116	10	82267											
GALNT2	2590	broad.mit.edu	37	chr1	230401042	230401042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagggaactaactgcCtcgacactttgggacacttt	10	10	10	11	1	0	0	0	0	0	0	1	3	0	2	1	2	5	2	1	2	2	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:230401042C>T	ENST00000366672.4	+	14	1441	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F	RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.L419F|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	457	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AACTAACTGCCTCGACACTTT	0.507													80	240					0	0	0	0	T	230401042	C	T	230401042	3	4	412	1	0	0	0	0	1	0	0	0	6262	681	24	4	1423	4	GALNT2	1	230401042	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	7116537	230401042	18849579	11	82268											
KIDINS220	57498	broad.mit.edu	37	chr2	8919829	8919829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatctgaaggactttgTcctgctcacaggcatctaat	10	11	8	12	0	3	1	1	1	2	0	4	2	4	2	2	2	2	3	2	2	2	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:8919829T>C	ENST00000256707.3	-	18	2526	c.2345A>G	c.(2344-2346)gAc>gGc	p.D782G	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D782G|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D783G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D740G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D782G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	782	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGGACTTTGTCCTGCTCACA	0.463													18	37					0	0	0	0	C	8919829	T	C	8919829	3	2	412	1	0	0	0	0	1	0	0	0	8322	1667	58	5	3022	5	KIDINS220	2	8919829	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08		8919829	234279544	12	82269											
NBAS	51594	broad.mit.edu	37	chr2	15555748	15555748	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttactaaatattcttttaaTagctcattagccacaccagg	13	14	5	9	0	2	0	1	0	1	0	2	0	2	0	2	1	3	2	2	1	7	8			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:15555748T>C	ENST00000281513.5	-	25	2884	c.2859A>G	c.(2857-2859)ctA>ctG	p.L953L	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	953										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATTCTTTTAATAGCTCATTAG	0.378													20	71					0	0	0	0	C	15555748	T	C	15555748	2	2	412	1	0	0	0	0	0	0	0	1	10256	1393	49	5		5	NBAS	2	15555748	Silent	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	6635919	15555748	227643625	13	82270											
PUS10	150962	broad.mit.edu	37	chr2	61181107	61181107	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtacttggattttgttaGatgagttattaattttctgt	9	20	8	4	1	1	2	0	1	1	1	1	3	1	3	0	1	1	3	0	1	4	9			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61181107G>C	ENST00000316752.6	-	14	1412	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	PUS10_ENST00000407787.1_Missense_Mutation_p.S384C	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	384					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GATTTTGTTAGATGAGTTATT	0.373													12	45					0	0	0	0	C	61181107	G	C	61181107	3	2	412	1	0	0	0	0	1	0	0	0	12913	942	33	2	458	2	PUS10	2	61181107	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	45625359	61181107	182018266	14	82271											
USP34	9736	broad.mit.edu	37	chr2	61575592	61575592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccactgttggcagtttcGtcagaacttccctgcatgga	8	12	9	12	1	2	1	2	0	0	1	4	2	3	2	2	2	2	4	2	2	1	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61575592G>A	ENST00000398571.2	-	15	1774	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	566					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGCAGTTTCGTCAGAACTTC	0.388													55	147					0	0	0	0	A	61575592	G	A	61575592	2	1	412	1	0	0	0	0	0	0	0	1	17161	1136	40	1		1	USP34	2	61575592	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	394485	61575592	181623781	15	82272											
XPO1	7514	broad.mit.edu	37	chr2	61725810	61725810	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatgtattcactgtacctTataaatcaatgtgctgatta	14	15	6	6	0	2	1	2	1	0	0	2	2	2	1	1	0	2	3	1	0	8	6			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61725810T>C	ENST00000401558.2	-	9	1484	c.757A>G	c.(757-759)Aag>Gag	p.K253E	XPO1_ENST00000406957.1_Missense_Mutation_p.K253E|XPO1_ENST00000404992.2_Missense_Mutation_p.K253E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	253	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CACTGTACCTTATAAATCAAT	0.363			Mis		CLL								13	36					0	0	0	0	C	61725810	T	C	61725810	3	2	412	1	0	0	0	0	1	0	0	0	17541	1763	61	5	2526	5	XPO1	2	61725810	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	150218	61725810	181473563	16	82273											
IMMT	10989	broad.mit.edu	37	chr2	86408456	86408456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtagagtatctgcggcatgGtcgcaatggacggaggacaa	12	7	15	7	3	1	1	0	0	1	1	2	4	1	4	0	5	1	4	0	5	4	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:86408456G>T	ENST00000410111.3	-	2	472	c.85C>A	c.(85-87)Cca>Aca	p.P29T	IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000409051.2_Missense_Mutation_p.P29T|IMMT_ENST00000449247.2_Missense_Mutation_p.P29T|IMMT_ENST00000442664.2_Missense_Mutation_p.P29T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	29						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCGGCATGGTCGCAATGGA	0.453													11	30					4.36969e-10	4.93835e-10	1	0	T	86408456	G	T	86408456	3	4	412	1	0	0	0	0	1	0	0	0	7771	1261	44	4	2247	4	IMMT	2	86408456	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	24682646	86408456	156790917	17	82274											
MAP4K4	9448	broad.mit.edu	37	chr2	102456449	102456449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaccaggaagaagagaggCgagaaaggtactaagcctgt	15	5	14	7	2	0	3	0	0	0	3	0	6	0	4	2	3	3	2	2	3	6	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:102456449C>T	ENST00000413150.2	+	10	997	c.942C>T	c.(940-942)ggC>ggT	p.G314G	MAP4K4_ENST00000350198.4_Silent_p.G314G|MAP4K4_ENST00000425019.1_Silent_p.G314G|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000324219.4_Silent_p.G314G|MAP4K4_ENST00000350878.4_Silent_p.G294G|MAP4K4_ENST00000347699.4_Silent_p.G314G|MAP4K4_ENST00000456652.1_Intron	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	314					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAAGAGAGGCGAGAAAGGTA	0.398													18	64					0	0	0	0	T	102456449	C	T	102456449	2	4	412	1	0	0	0	0	0	0	0	1	9331	755	27	1		1	MAP4K4	2	102456449	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	16047993	102456449	140742924	18	82275											
GLI2	2736	broad.mit.edu	37	chr2	121748026	121748030	+	Frame_Shift_Del	DEL	CGATG	CGATG	-																															gaggccccccagattgacttCgatgccatcatggatgatgg																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:121748026_121748030delCGATG	ENST00000452319.1	+	14	4596_4600	c.4536_4540delCGATG	c.(4534-4542)ttccfs	p.FDA1512fs	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Frame_Shift_Del_p.FDA1512fs			P10070	GLI2_HUMAN	GLI family zinc finger 2	1512					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGATTGACTTCGATGCCATCATGGA	0.629													74	197	---	---	---	---					-	121748030	CGATG	-	121748026	7	5	412	1	0	1	0	1	0	0	0	0	6489	883	31	0	4586	0	GLI2	2	121748026	Frame_Shift_Del	DEL	CGATG	TCGA-H7-A6C5-01A-11D-A30E-08	19291577	121748026	121451347	19	82276											
BIN1	274	broad.mit.edu	37	chr2	127828359	127828359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacggaggccaggtaggTccggagatccttctgcagcc	7	9	14	11	2	1	2	0	1	1	1	3	4	3	3	4	5	2	2	4	5	1	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:127828359T>C	ENST00000316724.5	-	3	610	c.199A>G	c.(199-201)Acc>Gcc	p.T67A	BIN1_ENST00000357970.3_Missense_Mutation_p.T67A|BIN1_ENST00000393040.3_Missense_Mutation_p.T67A|BIN1_ENST00000346226.3_Missense_Mutation_p.T67A|BIN1_ENST00000351659.3_Missense_Mutation_p.T67A|BIN1_ENST00000409400.1_Missense_Mutation_p.T67A|BIN1_ENST00000259238.4_Missense_Mutation_p.T67A|BIN1_ENST00000352848.3_Missense_Mutation_p.T67A|BIN1_ENST00000393041.3_Missense_Mutation_p.T67A|BIN1_ENST00000348750.4_Missense_Mutation_p.T67A|BIN1_ENST00000376113.2_Missense_Mutation_p.T67A	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	67	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCAGGTAGGTCCGGAGATCC	0.637													12	43					0	0	0	0	C	127828359	T	C	127828359	3	2	412	1	0	0	0	0	1	0	0	0	1437	1667	58	5	1699	5	BIN1	2	127828359	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	6080333	127828359	115371014	20	82277											
NMI	9111	broad.mit.edu	37	chr2	152135371	152135371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaaggtgataagtgctTgtcctttttgtatctcataa	10	18	7	6	0	2	1	2	1	1	0	4	1	3	1	1	1	1	2	1	1	4	7			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:152135371T>C	ENST00000243346.5	-	4	781	c.311A>G	c.(310-312)cAa>cGa	p.Q104R		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	104					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		GATAAGTGCTTGTCCTTTTTG	0.343													9	17					0	0	0	0	C	152135371	T	C	152135371	3	2	412	1	0	0	0	0	1	0	0	0	10567	1812	63	5	632	5	NMI	2	152135371	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	24307012	152135371	91064002	21	82278											
SCN7A	6332	broad.mit.edu	37	chr2	167284432	167284432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccactgatttgaccaaGtgaagatccgcgtctgcaac	10	10	9	12	2	1	4	0	3	1	1	3	4	3	4	3	0	3	2	3	0	3	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:167284432G>T	ENST00000409855.1	-	17	2845	c.2719C>A	c.(2719-2721)Ctt>Att	p.L907I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	907					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATTTGACCAAGTGAAGATCCG	0.378													9	32					1.76689e-08	1.95663e-08	1	0	T	167284432	G	T	167284432	3	4	412	1	0	0	0	0	1	0	0	0	14010	1029	36	4	2365	4	SCN7A	2	167284432	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	15149061	167284432	75914941	22	82279											
LRP2	4036	broad.mit.edu	37	chr2	170063536	170063536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccgtggtgtgacaatgcCctctgacacaagcactgttc	8	9	10	14	1	1	2	0	2	1	0	2	2	1	2	3	1	2	2	3	1	2	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:170063536C>A	ENST00000263816.3	-	39	6979	c.6694G>T	c.(6694-6696)Ggc>Tgc	p.G2232C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2232					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGACAATGCCCTCTGACACA	0.468													64	162					8.52622e-23	1.08217e-22	1	0	A	170063536	C	A	170063536	3	1	412	1	0	0	0	0	1	0	0	0	9020	623	22	4	7437	4	LRP2	2	170063536	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	2779104	170063536	73135837	23	82280											
TTN	7273	broad.mit.edu	37	chr2	179410814	179410814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtgttactctgctgaCggtgagctttccacatgggc	5	13	11	12	1	1	2	0	2	1	0	3	2	3	2	2	2	3	3	2	2	1	2	rs150930737	by1000genomes	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:179410814C>T	ENST00000589042.1	-	343	95373	c.95149G>A	c.(95149-95151)Gtc>Atc	p.V31717I	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22652I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30076I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22844I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22777I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29149I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30076	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTGCTGACGGTGAGCTTT	0.488													28	45					0	0	0	0	T	179410814	C	T	179410814	3	4	412	1	0	0	0	0	1	0	0	0	16831	536	19	1	12910	1	TTN	2	179410814	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	9347278	179410814	63788559	24	82281											
WDR75	84128	broad.mit.edu	37	chr2	190332193	190332194	+	Splice_Site	INS	-	-	A																															tatggcttatatttccacagINSaaaaagctgttggctggacc																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:190332193_190332194insA	ENST00000314761.4	+	14	1507_1508		c.e14-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TATTTCCACAGAAAAAGCTGTT	0.391													31	107	---	---	---	---					A	190332194	-	A	190332193	8	5	412	1	0	1	1	0	0	0	1	0	17421	956	33	0	1501	0	WDR75	2	190332193	Splice_Site	INS	-	TCGA-H7-A6C5-01A-11D-A30E-08	10921379	190332193	52867180	25	82282											
WDR75	84128	broad.mit.edu	37	chr2	190332307	190332307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttagttttgaggaaataGtcacaatatgggattctgta	13	14	10	4	0	2	1	1	1	1	0	2	3	2	3	0	2	0	3	0	2	6	7			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:190332307G>A	ENST00000314761.4	+	14	1621	c.1561G>A	c.(1561-1563)Gtc>Atc	p.V521I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	521						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TGAGGAAATAGTCACAATATG	0.378													35	92					0	0	0	0	A	190332307	G	A	190332307	3	1	412	1	0	0	0	0	1	0	0	0	17421	1029	36	4	1615	4	WDR75	2	190332307	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	114	190332307	52867066	26	82283											
PBRM1	55193	broad.mit.edu	37	chr3	52651282	52651282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgctggccctccttacctggGagccctcctcattatagtgc	5	11	9	16	1	1	0	1	0	0	0	3	1	3	1	5	2	3	1	5	2	3	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:52651282G>A	ENST00000356770.4	-	13	1720	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	PBRM1_ENST00000409057.1_Missense_Mutation_p.S605F|PBRM1_ENST00000410007.1_Missense_Mutation_p.S605F|PBRM1_ENST00000409114.3_Missense_Mutation_p.S620F|PBRM1_ENST00000394830.3_Missense_Mutation_p.S605F|PBRM1_ENST00000296302.7_Missense_Mutation_p.S605F|PBRM1_ENST00000337303.4_Missense_Mutation_p.S605F|PBRM1_ENST00000409767.1_Missense_Mutation_p.S620F			Q86U86	PB1_HUMAN	polybromo 1	605	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.S605F(2)|p.S573F(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTTACCTGGGAGCCCTCCTC	0.483			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								13	15					0	0	0	0	A	52651282	G	A	52651282	3	1	412	1	0	0	0	0	1	0	0	0	11562	1174	41	2	3154	2	PBRM1	3	52651282	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		52651282	145371148	27	82284											
SENP7	57337	broad.mit.edu	37	chr3	101059042	101059042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccccttagtaggtggtggagGatatacaatcaaccttaaaa	14	10	9	8	0	1	0	1	0	0	0	1	2	1	2	3	4	2	1	3	4	8	5			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:101059042G>A	ENST00000394095.2	-	16	2307	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	SENP7_ENST00000394094.2_Missense_Mutation_p.P687S|SENP7_ENST00000348610.3_Missense_Mutation_p.P719S|SENP7_ENST00000358203.3_Missense_Mutation_p.P588S|SENP7_ENST00000314261.7_Missense_Mutation_p.P686S|SENP7_ENST00000394091.1_Missense_Mutation_p.P588S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	752					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTGGTGGAGGATATACAATC	0.313													5	8					0	0	0	0	A	101059042	G	A	101059042	3	1	412	1	0	0	0	0	1	0	0	0	14138	1174	41	2	934	2	SENP7	3	101059042	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	48407760	101059042	96963388	28	82285											
MORC1	27136	broad.mit.edu	37	chr3	108677856	108677856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctaaagggagtctatGtcttgcatctatagttactt	9	19	7	6	0	4	0	0	0	4	0	4	1	4	1	0	1	2	2	0	1	6	9			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:108677856G>T	ENST00000232603.5	-	28	2993	c.2911C>A	c.(2911-2913)Cat>Aat	p.H971N	MORC1_ENST00000483760.1_Missense_Mutation_p.H950N	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	971					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						gggagtctatgtcttgcatct	0.308													9	10					1.12685e-05	1.19955e-05	1	0	T	108677856	G	T	108677856	3	4	412	1	0	0	0	0	1	0	0	0	9771	1377	48	4	47	4	MORC1	3	108677856	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	7618814	108677856	89344574	29	82286											
IGSF11	152404	broad.mit.edu	37	chr3	118647404	118647404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcctgccccctatgtctgGaaggttgttgaccaggcact	6	12	11	12	0	1	1	0	1	1	0	2	2	2	2	4	3	1	4	4	3	2	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:118647404G>T	ENST00000354673.2	-	5	753	c.373C>A	c.(373-375)Cca>Aca	p.P125T	IGSF11_ENST00000491903.1_Missense_Mutation_p.P126T|IGSF11_ENST00000441144.2_Missense_Mutation_p.P125T|IGSF11_ENST00000489689.1_Missense_Mutation_p.P126T|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Missense_Mutation_p.P125T|IGSF11_ENST00000393775.2_Missense_Mutation_p.P126T	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	126	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTATGTCTGGAAGGTTGTTG	0.498													27	27					3.73148e-12	4.36662e-12	1	0	T	118647404	G	T	118647404	3	4	412	1	0	0	0	0	1	0	0	0	7651	1174	41	2	939	2	IGSF11	3	118647404	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	9969548	118647404	79375026	30	82287											
KBTBD12	166348	broad.mit.edu	37	chr3	127642211	127642218	+	Frame_Shift_Del	DEL	ACTGTAGC	ACTGTAGC	-																															tcaataatgccaatgtacagActgtagctatggctgcctat																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:127642211_127642218delACTGTAGC	ENST00000405109.1	+	2	774_781	c.307_314delACTGTAGC	c.(307-315)tfs	p.TVA103fs	KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.TVA103fs|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	103										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CAATGTACAGACTGTAGCTATGGCTGCC	0.38													9	25	---	---	---	---					-	127642218	ACTGTAGC	-	127642211	7	5	412	1	0	1	0	1	0	0	0	0	8044	275	10	0	309	0	KBTBD12	3	127642211	Frame_Shift_Del	DEL	ACTGTAGC	TCGA-H7-A6C5-01A-11D-A30E-08	8994807	127642211	70380219	31	82288											
EGF	1950	broad.mit.edu	37	chr4	110914521	110914521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgaaccaggactgatttgCcctggtaggttggtgggtgg	6	12	16	7	0	1	2	0	2	1	0	1	3	1	3	2	6	2	2	2	6	2	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:110914521C>T	ENST00000265171.5	+	19	3298	c.2853C>T	c.(2851-2853)tgC>tgT	p.C951C	EGF_ENST00000509793.1_Silent_p.C909C|EGF_ENST00000503392.1_Intron	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	951	EGF-like 8; calcium-binding (Potential).				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			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)	GACTGATTTGCCCTGGTAGGT	0.502													4	128					0	0	0	0	T	110914521	C	T	110914521	2	4	412	1	0	0	0	0	0	0	0	1	4998	747	26	4		4	EGF	4	110914521	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		110914521	80239755	32	82289											
ANKRD50	57182	broad.mit.edu	37	chr4	125591287	125591287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggctgcaatacagaGtgcagttgcaccttggttac	8	12	11	10	0	0	1	0	0	0	1	1	1	1	1	2	2	5	6	2	2	3	5			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:125591287G>A	ENST00000504087.1	-	4	4182	c.3145C>T	c.(3145-3147)Ctc>Ttc	p.L1049F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L870F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1049										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCAATACAGAGTGCAGTTGCA	0.478													21	43					0	0	0	0	A	125591287	G	A	125591287	3	1	412	1	0	0	0	0	1	0	0	0	676	1029	36	4	1148	4	ANKRD50	4	125591287	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	14676766	125591287	65562989	33	82290											
DCLK2	166614	broad.mit.edu	37	chr4	151000230	151000230	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactttgaggaacgggacaaAaggccgcggccggggtcgcg	9	4	17	11	6	0	1	0	1	0	0	1	3	0	3	2	6	1	0	2	6	3	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:151000230A>T	ENST00000296550.7	+	1	805	c.51A>T	c.(49-51)aaA>aaT	p.K17N	DCLK2_ENST00000506325.1_Missense_Mutation_p.K17N|DCLK2_ENST00000302176.8_Missense_Mutation_p.K17N	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	17					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AACGGGACAAAAGGCCGCGGC	0.697													8	27					0	0	0	0	T	151000230	A	T	151000230	3	4	412	1	0	0	0	0	1	0	0	0	4324	11	1	5	53	5	DCLK2	4	151000230	Missense_Mutation	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08	25408943	151000230	40154046	34	82291											
WWC2	80014	broad.mit.edu	37	chr4	184174979	184174979	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggggcactggatattgaGaaggaaaaactgatgctgat	13	9	13	6	0	0	3	0	3	0	1	0	6	0	5	1	4	2	2	1	4	4	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:184174979G>A	ENST00000403733.3	+	9	1222	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	WWC2_ENST00000448232.2_Silent_p.E341E|WWC2_ENST00000378925.3_Silent_p.E243E|WWC2_ENST00000504005.1_Silent_p.E23E|WWC2_ENST00000513834.1_Silent_p.E341E	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	341										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGGATATTGAGAAGGAAAAAC	0.398													4	19					0	0	0	0	A	184174979	G	A	184174979	2	1	412	1	0	0	0	0	0	0	0	1	17508	933	33	2		2	WWC2	4	184174979	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	33174749	184174979	6979297	35	82292											
FAT1	2195	broad.mit.edu	37	chr4	187518853	187518853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttctcccctaaaaccCgaatcacactgacaaacggc	13	8	4	16	2	2	1	1	1	1	0	3	2	2	1	4	1	3	0	4	1	5	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:187518853C>T	ENST00000441802.2	-	24	12560	c.12351G>A	c.(12349-12351)tcG>tcA	p.S4117S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4117	EGF-like 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCTAAAACCCGAATCACACT	0.428										HNSCC(5;0.00058)			4	28					0	0	0	0	T	187518853	C	T	187518853	2	4	412	1	0	0	0	0	0	0	0	1	5734	639	23	1		1	FAT1	4	187518853	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	3343874	187518853	3635423	36	82293											
CDH6	1004	broad.mit.edu	37	chr5	31317589	31317589	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctcaaactttaccattcaAgacaacaaaggtaaatgagt	17	9	7	8	0	2	2	2	1	0	1	2	2	2	2	1	2	3	2	1	2	7	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:31317589A>T	ENST00000265071.2	+	10	1885	c.1620A>T	c.(1618-1620)caA>caT	p.Q540H	CDH6_ENST00000514738.1_Missense_Mutation_p.Q485H	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	540	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						TTACCATTCAAGACAACAAAG	0.393													27	55					0	0	0	0	T	31317589	A	T	31317589	3	4	412	1	0	0	0	0	1	0	0	0	3143	69	3	5	1654	5	CDH6	5	31317589	Missense_Mutation	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08		31317589	149597671	37	82294											
PCDHB4	56131	broad.mit.edu	37	chr5	140502218	140502218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagcttaaccctcgtggCgctggatggtgggtcaccac	6	10	13	12	2	2	0	2	0	0	0	3	1	2	1	2	4	2	3	2	4	1	2	rs147134705		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:140502218C>A	ENST00000194152.1	+	1	638	c.638C>A	c.(637-639)gCg>gAg	p.A213E		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTCGTGGCGCTGGATGGT	0.512													55	30					6.60958e-23	8.45411e-23	1	0	A	140502218	C	A	140502218	3	1	412	1	0	0	0	0	1	0	0	0	11615	768	27	3	640	3	PCDHB4	5	140502218	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	109184629	140502218	40413042	38	82295											
GEMIN5	25929	broad.mit.edu	37	chr5	154278774	154278774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcagctacagcatagtgGccatctctttctaggacggt	8	12	11	10	1	2	0	0	0	2	0	3	1	2	1	1	4	3	3	1	4	3	5			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:154278774G>A	ENST00000285873.7	-	22	3186	c.3111C>T	c.(3109-3111)ggC>ggT	p.G1037G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1037					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCATAGTGGCCATCTCTTT	0.547													94	67					0	0	0	0	A	154278774	G	A	154278774	2	1	412	1	0	0	0	0	0	0	0	1	6382	1190	42	4		4	GEMIN5	5	154278774	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	13776556	154278774	26636486	39	82296											
NSD1	64324	broad.mit.edu	37	chr5	176687015	176687017	+	In_Frame_Del	DEL	TCC	TCC	-																															ttgatgcgctgtgtccgctgTcctgtggcataccacgccaa																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:176687015_176687017delTCC	ENST00000439151.2	+	14	5037_5039	c.4992_4994delTCC	c.(4990-4995)tgt>tg	p.CP1664del	NSD1_ENST00000347982.4_In_Frame_Del_p.CP1395del|NSD1_ENST00000354179.4_In_Frame_Del_p.CP1395del|NSD1_ENST00000361032.4_In_Frame_Del_p.CP1561del	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1664					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTGTCCGCTGTCCTGTGGCATAC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			93	65	---	---	---	---					-	176687017	TCC	-	176687015	7	5	412	1	0	1	0	1	0	0	0	0	10740	1673	58	0	5042	0	NSD1	5	176687015	In_Frame_Del	DEL	TCC	TCGA-H7-A6C5-01A-11D-A30E-08	22408241	176687015	4228245	40	82297											
OR2H1	26716	broad.mit.edu	37	chr6	29429979	29429979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctggcagctggcatctGtggcctgggttatgagtctg	4	13	16	8	0	2	1	0	1	2	0	2	1	2	1	1	4	2	5	1	4	1	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:29429979G>A	ENST00000377136.1	+	4	898	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	OR2H1_ENST00000377132.1_Missense_Mutation_p.V145M|OR2H1_ENST00000442615.1_Missense_Mutation_p.V145M|OR2H1_ENST00000396792.2_Missense_Mutation_p.V145M|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.V145M			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCTGGCATCTGTGGCCTGGGT	0.562													74	147					0	0	0	0	A	29429979	G	A	29429979	3	1	412	1	0	0	0	0	1	0	0	0	11072	1377	48	4	435	4	OR2H1	6	29429979	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		29429979	141685088	41	82298											
MAPK14	1432	broad.mit.edu	37	chr6	36043720	36043720	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgagatcatgctgaactgGatgcattacaaccagacagg	13	8	10	10	0	1	3	1	2	0	2	1	5	1	4	2	2	5	2	2	2	3	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:36043720G>A	ENST00000229795.3	+	7	1038	c.591G>A	c.(589-591)tgG>tgA	p.W197*	MAPK14_ENST00000229794.4_Nonsense_Mutation_p.W197*|MAPK14_ENST00000310795.4_Nonsense_Mutation_p.W197*|MAPK14_ENST00000468133.1_Nonsense_Mutation_p.W120*	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	197	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGCTGAACTGGATGCATTACA	0.453													20	46					0	0	0	0	A	36043720	G	A	36043720	4	1	412	1	0	0	0	0	0	1	0	0	9345	1183	41	2	617	2	MAPK14	6	36043720	Nonsense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	6613741	36043720	135071347	42	82299											
DNAH8	1769	broad.mit.edu	37	chr6	38906573	38906573	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattcttaaaatgtgtttcaGatctgaaaagtcaccactac	14	13	6	8	0	4	2	2	1	2	1	4	3	4	2	1	0	1	1	1	0	5	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:38906573G>C	ENST00000359357.3	+	77	11419		c.e77-1		RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGTGTTTCAGATCTGAAAAG	0.348													10	24					0	0	0	0	C	38906573	G	C	38906573	5	2	412	1	0	0	0	0	0	0	1	0	4643	956	33	2	11463	2	DNAH8	6	38906573	Splice_Site	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	2862853	38906573	132208494	43	82300											
USP49	25862	broad.mit.edu	37	chr6	41773964	41773964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggttgcgcaggcccGtgacgcctggggccatggcc	4	6	16	15	3	0	1	0	1	0	0	0	1	0	1	5	5	2	2	5	5	0	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:41773964G>A	ENST00000394253.3	-	3	1087	c.758C>T	c.(757-759)aCg>aTg	p.T253M	USP49_ENST00000373009.3_Missense_Mutation_p.T253M|USP49_ENST00000373010.1_Missense_Mutation_p.T253M|USP49_ENST00000297229.2_Missense_Mutation_p.T253M|USP49_ENST00000373006.1_Missense_Mutation_p.T253M			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	253					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCAGGCCCGTGACGCCTGG	0.672													4	91					0	0	0	0	A	41773964	G	A	41773964	3	1	412	1	0	0	0	0	1	0	0	0	17176	1145	40	1	1180	1	USP49	6	41773964	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	2867391	41773964	129341103	44	82301											
GPR116	221395	broad.mit.edu	37	chr6	46826829	46826829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttaaaagtcattgaaatCctgaatggcatagttgtatt	13	16	7	5	0	2	2	1	2	1	0	3	2	3	2	1	1	0	3	1	1	6	7			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:46826829C>A	ENST00000283296.7	-	17	3099	c.2811G>T	c.(2809-2811)agG>agT	p.R937S	GPR116_ENST00000545669.1_Missense_Mutation_p.R366S|GPR116_ENST00000362015.4_Missense_Mutation_p.R937S|GPR116_ENST00000456426.2_Missense_Mutation_p.R795S|GPR116_ENST00000265417.7_Missense_Mutation_p.R937S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	937					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCATTGAAATCCTGAATGGCA	0.478													32	83					2.68265e-12	3.1617e-12	1	0	A	46826829	C	A	46826829	3	1	412	1	0	0	0	0	1	0	0	0	6682	854	30	2	1249	2	GPR116	6	46826829	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	5052865	46826829	124288238	45	82302											
KHDRBS2	202559	broad.mit.edu	37	chr6	62390885	62390885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttcaatatctaccataggGgtgttccctgtatccccctc	7	13	6	15	0	2	0	1	0	1	0	5	0	4	0	5	2	1	2	5	2	5	6			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:62390885G>T	ENST00000281156.4	-	9	1311	c.1033C>A	c.(1033-1035)Ccc>Acc	p.P345T	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTACCATAGGGGTGTTCCCTG	0.488													14	24					6.72482e-11	7.65239e-11	1	0	T	62390885	G	T	62390885	3	4	412	1	0	0	0	0	1	0	0	0	8198	1232	43	4	20	4	KHDRBS2	6	62390885	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	15564056	62390885	108724182	46	82303											
BAI3	577	broad.mit.edu	37	chr6	69349298	69349298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtctgcaatcttaccaGggaggccaagcgaccaccca	12	5	9	15	1	2	0	0	0	2	0	2	2	2	1	5	2	3	1	5	2	4	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:69349298G>T	ENST00000370598.1	+	3	1552	c.731G>T	c.(730-732)aGg>aTg	p.R244M		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	244					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R244K(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATCTTACCAGGGAGGCCAAG	0.527													9	29					0.000274275	0.000290099	1	0	T	69349298	G	T	69349298	3	4	412	1	0	0	0	0	1	0	0	0	1304	1000	35	4	733	4	BAI3	6	69349298	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	6958413	69349298	101765769	47	82304											
COL19A1	1310	broad.mit.edu	37	chr6	70610150	70610150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttttgatctaggagacagCttttctctaagacgtgcatt	9	15	10	7	1	2	3	0	1	2	2	3	4	2	3	0	2	2	3	0	2	2	7			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:70610150C>A	ENST00000322773.4	+	4	288	c.186C>A	c.(184-186)agC>agA	p.S62R		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	62	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TAGGAGACAGCTTTTCTCTAA	0.294													8	18					1.12685e-05	1.19955e-05	1	0	A	70610150	C	A	70610150	3	1	412	1	0	0	0	0	1	0	0	0	3706	796	28	4	196	4	COL19A1	6	70610150	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	1260852	70610150	100504917	48	82305											
SIM1	6492	broad.mit.edu	37	chr6	100841613	100841613	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagagagagctgcggtcCgaaaactgtctgtaggcgca	11	7	14	9	3	1	2	0	0	1	2	2	4	2	2	1	2	4	4	1	2	4	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:100841613C>G	ENST00000369208.3	-	11	2102	c.1320G>C	c.(1318-1320)tcG>tcC	p.S440S	SIM1_ENST00000262901.4_Silent_p.S440S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	440	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S440S(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCTGCGGTCCGAAAACTGTC	0.622													33	105					0	0	0	0	G	100841613	C	G	100841613	2	3	412	1	0	0	0	0	0	0	0	1	14411	639	23	3		3	SIM1	6	100841613	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	30231463	100841613	70273454	49	82306											
THEMIS	387357	broad.mit.edu	37	chr6	128134040	128134040	+	Frame_Shift_Del	DEL	G	G	-																															agccttaccttgggagacttGggcaggtctaccgtcctttc																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:128134040delG	ENST00000368250.1	-	5	2007	c.1509delC	c.(1507-1509)ccfs	p.P503fs	THEMIS_ENST00000543064.1_Frame_Shift_Del_p.P582fs|THEMIS_ENST00000537166.1_Frame_Shift_Del_p.P547fs|THEMIS_ENST00000368248.2_Frame_Shift_Del_p.P582fs			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	582	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGGGAGACTTGGGCAGGTCTA	0.478													54	201	---	---	---	---					-	128134040	G	-	128134040	7	5	412	1	0	1	0	1	0	0	0	0	15954	1335	47	0	312	0	THEMIS	6	128134040	Frame_Shift_Del	DEL	G	TCGA-H7-A6C5-01A-11D-A30E-08	27292427	128134040	42981027	50	82307											
CTAGE9	643854	broad.mit.edu	37	chr6	132032088	132032088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catactctcaggtagtgctgCcacaactctgcctagctcct	8	11	7	15	0	2	0	1	0	2	0	4	0	3	0	3	1	6	3	3	1	4	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:132032088C>T	ENST00000314099.8	-	1	118	c.70G>A	c.(70-72)Gca>Aca	p.A24T	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	24						integral to membrane				endometrium(1)|lung(1)	2						GGTAGTGCTGCCACAACTCTG	0.547													20	19					0	0	0	0	T	132032088	C	T	132032088	3	4	412	1	0	0	0	0	1	0	0	0	4028	739	26	4	2267	4	CTAGE9	6	132032088	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	3898048	132032088	39082979	51	82308											
C6orf118	168090	broad.mit.edu	37	chr6	165715178	165715178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatcctgtacctgtctgcGctggtggctccggccaggta	6	10	12	13	2	1	0	0	0	1	0	3	0	3	0	4	4	3	4	4	4	3	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:165715178G>A	ENST00000543069.1	-	2	902	c.321C>T	c.(319-321)agC>agT	p.S107S	C6orf118_ENST00000230301.8_Silent_p.S211S			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	211										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)		ACCTGTCTGCGCTGGTGGCTC	0.627													9	88					0	0	0	0	A	165715178	G	A	165715178	2	1	412	1	0	0	0	0	0	0	0	1	2344	1078	38	1		1	C6orf118	6	165715178	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	33683090	165715178	5399889	52	82309											
TCP10L2	401285	broad.mit.edu	37	chr6	167592605	167592605	+	Missense_Mutation	SNP	T	T	G																															gcagacggcagcagccggagTtgctggtgagcagggtaggg																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:167592605T>G	ENST00000366832.2	+	6	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582													5	21					0	0	0	0	G	167592605	T	G	167592605	3	3	412	1	0	0	0	0	1	0	0	0	15806	1725	60	5	782	5	TCP10L2	6	167592605	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	1877427	167592605	3522462	53	82310	1048	2									
TCP10L2	401285	broad.mit.edu	37	chr6	167592606	167592606	+	Silent	SNP	T	T	A																															cagacggcagcagccggagtTgctggtgagcagggtagggg																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:167592606T>A	ENST00000366832.2	+	6	896	c.765T>A	c.(763-765)gtT>gtA	p.V255V		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						CAGCCGGAGTTGCTGGTGAGC	0.577													5	21					0	0	0	0	A	167592606	T	A	167592606	2	1	412	1	0	0	0	0	0	0	0	1	15806	1799	63	5		5	TCP10L2	6	167592606	Silent	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	1	167592606	3522461	54	82311	1048	2									
NXPH1	30010	broad.mit.edu	37	chr7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattgaatatgaaaaggttGacaaggctaccaagaacaca	18	7	9	7	0	0	4	0	3	0	1	0	4	0	4	1	2	2	3	1	2	8	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	202	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433													10	27					0	0	0	0	A	8791187	G	A	8791187	3	1	412	1	0	0	0	0	1	0	0	0	10861	1290	45	2	610	2	NXPH1	7	8791187	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		8791187	150347476	55	82312											
DNAH11	8701	broad.mit.edu	37	chr7	21857932	21857932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctggatccactacttGgcaggaacacaattaaaaaa	16	8	7	10	0	0	0	0	0	0	0	2	2	2	2	2	3	2	1	2	3	6	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:21857932G>T	ENST00000328843.6	+	66	10718	c.10687G>T	c.(10687-10689)Ggc>Tgc	p.G3563C	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3556C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3563	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCACTACTTGGCAGGAACAC	0.353									Kartagener syndrome				14	66					2.61681e-11	3.04066e-11	1	0	T	21857932	G	T	21857932	3	4	412	1	0	0	0	0	1	0	0	0	4636	1348	47	4	10946	4	DNAH11	7	21857932	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	13066745	21857932	137280731	56	82313											
EEPD1	80820	broad.mit.edu	37	chr7	36194103	36194103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccctgcctggggtgaCgcgtgccgtggcacgcagca	6	6	16	13	4	0	2	0	2	0	0	0	3	0	2	3	3	3	3	3	3	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:36194103C>T	ENST00000242108.4	+	2	888	c.170C>T	c.(169-171)aCg>aTg	p.T57M	EEPD1_ENST00000534978.1_Missense_Mutation_p.T57M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	57	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCTGGGGTGACGCGTGCCGTG	0.577													5	284					0	0	0	0	T	36194103	C	T	36194103	3	4	412	1	0	0	0	0	1	0	0	0	4968	536	19	1	172	1	EEPD1	7	36194103	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	14336171	36194103	122944560	57	82314											
OGDH	4967	broad.mit.edu	37	chr7	44747537	44747537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaagaagacccacctgaCggagctgcagcgcctcctgg	11	4	11	15	2	0	3	0	1	0	2	1	4	1	4	4	2	4	2	4	2	3	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:44747537C>T	ENST00000222673.5	+	23	3053	c.3011C>T	c.(3010-3012)aCg>aTg	p.T1004M	OGDH_ENST00000444676.1_Missense_Mutation_p.T1019M|OGDH_ENST00000439616.2_Missense_Mutation_p.T854M|OGDH_ENST00000543843.1_Missense_Mutation_p.T955M|OGDH_ENST00000449767.1_Missense_Mutation_p.T1000M|OGDH_ENST00000447398.1_Missense_Mutation_p.T1015M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	1004					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACCCACCTGACGGAGCTGCAG	0.642													4	117					0	0	0	0	T	44747537	C	T	44747537	3	4	412	1	0	0	0	0	1	0	0	0	10910	536	19	1	3270	1	OGDH	7	44747537	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	8553434	44747537	114391126	58	82315											
ZNF716	441234	broad.mit.edu	37	chr7	57528811	57528811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggagaagtcttacaaatGtgaagaatgtggcaaatcct	15	10	11	5	0	1	3	0	1	1	2	2	4	2	3	1	2	1	1	1	2	7	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:57528811G>A	ENST00000420713.1	+	4	756	c.644G>A	c.(643-645)tGt>tAt	p.C215Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCTTACAAATGTGAAGAATGT	0.358													8	17					0	0	0	0	A	57528811	G	A	57528811	3	1	412	1	0	0	0	0	1	0	0	0	18214	1377	48	4	658	4	ZNF716	7	57528811	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	12781274	57528811	101609852	59	82316											
TPST1	8460	broad.mit.edu	37	chr7	65706141	65706141	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcactatgaacaacttgtCttacatcctgaacggtggat	11	13	8	9	1	2	2	1	2	1	0	3	3	3	3	1	2	4	1	1	2	5	4	rs139548967		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:65706141C>T	ENST00000304842.5	+	2	1154	c.729C>T	c.(727-729)gtC>gtT	p.V243V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	243					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AACAACTTGTCTTACATCCTG	0.423													22	45					0	0	0	0	T	65706141	C	T	65706141	2	4	412	1	0	0	0	0	0	0	0	1	16522	900	32	2		2	TPST1	7	65706141	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	8177330	65706141	93432522	60	82317											
COL1A2	1278	broad.mit.edu	37	chr7	94052415	94052415	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagaagggtccctctggAgaggctggtactgctgtaag	8	9	17	7	0	1	2	0	1	1	2	2	4	2	2	1	5	2	4	1	5	3	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:94052415A>T	ENST00000297268.6	+	40	3021	c.2550A>T	c.(2548-2550)ggA>ggT	p.G850G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	850			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCCTCTGGAGAGGCTGGTA	0.498										HNSCC(75;0.22)			29	79					0	0	0	0	T	94052415	A	T	94052415	2	4	412	1	0	0	0	0	0	0	0	1	3708	291	11	5		5	COL1A2	7	94052415	Silent	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08	28346274	94052415	65086248	61	82318											
SLC13A1	6561	broad.mit.edu	37	chr7	122774493	122774493	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagccactgaagccaGatccaggataagagtagaat	18	5	11	7	0	0	4	0	1	0	3	1	6	1	6	3	2	2	1	3	2	6	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:122774493G>T	ENST00000194130.2	-	8	942	c.903C>A	c.(901-903)atC>atA	p.I301I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	301						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTGAAGCCAGATCCAGGATA	0.413													15	43					6.72482e-11	7.65239e-11	1	0	T	122774493	G	T	122774493	2	4	412	1	0	0	0	0	0	0	0	1	14479	932	33	2		2	SLC13A1	7	122774493	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	28722078	122774493	36364170	62	82319											
IKBKB	3551	broad.mit.edu	37	chr8	42176917	42176917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgacctggagaagtacagCgagcaaaccgagtttgggat	13	8	13	7	2	0	2	0	1	0	1	0	6	0	3	2	2	4	3	2	2	3	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:42176917C>A	ENST00000520810.1	+	14	1680	c.1494C>A	c.(1492-1494)agC>agA	p.S498R	IKBKB_ENST00000379708.3_Missense_Mutation_p.S275R|IKBKB_ENST00000416505.2_Missense_Mutation_p.S439R|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.S496R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	498					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGAAGTACAGCGAGCAAACCG	0.408											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	127					1	1	1	0	A	42176917	C	A	42176917	3	1	412	1	0	0	0	0	1	0	0	0	7664	767	27	3	1544	3	IKBKB	8	42176917	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		42176917	104187105	63	82320											
CHD7	55636	broad.mit.edu	37	chr8	61765846	61765846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgccaaggagaaatgtGagggcaaagaagaggaagaa	18	3	15	5	0	0	5	0	1	0	4	0	7	0	6	1	3	2	2	1	3	6	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:61765846G>C	ENST00000423902.2	+	31	7041	c.6562G>C	c.(6562-6564)Gag>Cag	p.E2188Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2188	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGAAATGTGAGGGCAAAGA	0.502													11	28					0	0	0	0	C	61765846	G	C	61765846	3	2	412	1	0	0	0	0	1	0	0	0	3359	1291	45	2	6680	2	CHD7	8	61765846	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	19588929	61765846	84598176	64	82321											
MMP16	4325	broad.mit.edu	37	chr8	89198815	89198815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtacaccgcatcggggCttcttcatccagctgcaaaa	10	9	9	13	2	3	0	2	0	1	0	5	0	4	0	2	3	3	5	2	3	3	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:89198815C>A	ENST00000286614.6	-	3	575	c.294G>T	c.(292-294)aaG>aaT	p.K98N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	98					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CGCATCGGGGCTTCTTCATCC	0.363													35	109					1.45844e-13	1.75651e-13	1	0	A	89198815	C	A	89198815	3	1	412	1	0	0	0	0	1	0	0	0	9724	796	28	4	1717	4	MMP16	8	89198815	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	27432969	89198815	57165207	65	82322											
SPAG1	6674	broad.mit.edu	37	chr8	101252864	101252864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcaccaaaagatttgccGatgtttttaagtaacaaact	15	12	6	8	1	0	1	0	0	0	1	0	2	0	1	2	0	4	3	2	0	5	5			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:101252864G>A	ENST00000388798.2	+	18	2705	c.2514G>A	c.(2512-2514)ccG>ccA	p.P838P	SPAG1_ENST00000251809.3_Silent_p.P838P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	838					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAGATTTGCCGATGTTTTTAA	0.378													17	41					0	0	0	0	A	101252864	G	A	101252864	2	1	412	1	0	0	0	0	0	0	0	1	15065	1045	37	1		1	SPAG1	8	101252864	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	12054049	101252864	45111158	66	82323											
PKHD1L1	93035	broad.mit.edu	37	chr8	110393597	110393597	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtcttcttacttttccAggtttttctcaagcaaacca	10	17	4	10	0	3	0	1	0	3	0	5	0	4	0	2	1	3	2	2	1	4	7			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:110393597A>G	ENST00000378402.5	+	3	267		c.e3-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACTTTTCCAGGTTTTTCTC	0.323										HNSCC(38;0.096)			3	8					0	0	0	0	G	110393597	A	G	110393597	5	3	412	1	0	0	0	0	0	0	1	0	12044	202	7	5	172	5	PKHD1L1	8	110393597	Splice_Site	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08	9140733	110393597	35970425	67	82324											
KCNQ3	3786	broad.mit.edu	37	chr8	133196524	133196524	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggcaaacttcagtcGgccccgccagcctttgtatc	6	11	8	16	2	1	0	1	0	0	0	4	0	2	0	5	2	2	2	5	2	2	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:133196524G>T	ENST00000388996.4	-	3	988	c.568C>A	c.(568-570)Cga>Aga	p.R190R	KCNQ3_ENST00000519445.1_Silent_p.R190R|KCNQ3_ENST00000521134.1_Silent_p.R70R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	190					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R190*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AACTTCAGTCGGCCCCGCCAG	0.537													45	111					4.67007e-22	5.88214e-22	1	0	T	133196524	G	T	133196524	2	4	412	1	0	0	0	0	0	0	0	1	8137	1124	39	3		3	KCNQ3	8	133196524	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	22802927	133196524	13167498	68	82325											
DOCK8	81704	broad.mit.edu	37	chr9	418112	418112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggctcggatgaagaaCaagaaggagccggtgccatt	12	6	14	9	2	0	3	0	1	0	2	1	5	0	5	3	4	3	1	3	4	4	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:418112C>G	ENST00000432829.2	+	30	3857	c.3541C>G	c.(3541-3543)Caa>Gaa	p.Q1181E	DOCK8_ENST00000382329.1_Missense_Mutation_p.Q716E|DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1149E|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q1249E	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1249					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGATGAAGAACAAGAAGGAGC	0.453													47	56					0	0	0	0	G	418112	C	G	418112	3	3	412	1	0	0	0	0	1	0	0	0	4729	479	17	4	3863	4	DOCK8	9	418112	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		418112	140795319	69	82326											
KIF27	55582	broad.mit.edu	37	chr9	86451951	86451951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttggtttcctagatacttCgatggaatcagcagccattg	9	13	9	10	1	1	1	1	0	0	1	3	3	2	2	3	2	3	2	3	2	3	6			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:86451951C>T	ENST00000297814.2	-	18	4314	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1294K|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1325K|RP11-575L7.2_ENST00000439378.3_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1391					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTAGATACTTCGATGGAATCA	0.363													5	61					0	0	0	0	T	86451951	C	T	86451951	3	4	412	1	0	0	0	0	1	0	0	0	8347	893	31	1	38	1	KIF27	9	86451951	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	86033839	86451951	54761480	70	82327											
GRIN3A	116443	broad.mit.edu	37	chr9	104449287	104449287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtggaggggaggttagCggtgatgttgatgatagaac	9	10	19	3	1	0	4	0	3	0	1	0	6	0	6	0	6	2	2	0	6	3	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:104449287C>T	ENST00000361820.3	-	2	1495	c.895G>A	c.(895-897)Gct>Act	p.A299T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	299					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.A299T(2)		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)	GGGAGGTTAGCGGTGATGTTG	0.498													12	74					0	0	0	0	T	104449287	C	T	104449287	3	4	412	1	0	0	0	0	1	0	0	0	6833	768	27	1	2484	1	GRIN3A	9	104449287	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	17997336	104449287	36764144	71	82328											
ZNF33A	7581	broad.mit.edu	37	chr10	38305868	38305868	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacccaggaggagtggCagcacctggaccctagtcag	9	6	13	13	0	2	0	2	0	0	0	2	3	2	3	3	4	1	3	3	4	1	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:38305868C>T	ENST00000374618.3	+	3	257	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.Q34*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.Q27*|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Nonsense_Mutation_p.Q27*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.Q27*	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	27	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAGGAGTGGCAGCACCTGGA	0.473													23	73					0	0	0	0	T	38305868	C	T	38305868	4	4	412	1	0	0	0	0	0	1	0	0	17949	711	25	4	85	4	ZNF33A	10	38305868	Nonsense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		38305868	97228879	72	82329											
PCDH15	65217	broad.mit.edu	37	chr10	55583041	55583041	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggaagaaaagggcatcAcaacttgttgatgtttcctg	12	13	10	6	0	1	2	1	1	0	1	2	3	2	3	1	2	1	3	1	2	5	5			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:55583041A>G	ENST00000361849.3	-	34	4845	c.4451T>C	c.(4450-4452)gTg>gCg	p.V1484A	PCDH15_ENST00000395433.1_Missense_Mutation_p.V1459A|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1413A|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1442A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1479A|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1482A|PCDH15_ENST00000373957.3_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	1482					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGGGCATCACAACTTGTTG	0.378										HNSCC(58;0.16)			24	43					0	0	0	0	G	55583041	A	G	55583041	3	3	412	1	0	0	0	0	1	0	0	0	11582	159	6	5	3032	5	PCDH15	10	55583041	Missense_Mutation	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08	17277173	55583041	79951706	73	82330											
ZCCHC24	219654	broad.mit.edu	37	chr10	81154121	81154121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatccattttctcttgcActtgggacacttgtactcgc	6	15	7	13	1	2	0	1	0	1	0	5	1	3	1	1	1	2	3	1	1	1	6			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:81154121A>G	ENST00000372336.3	-	3	709	c.523T>C	c.(523-525)Tgc>Cgc	p.C175R	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.V115A	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	175							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTTCTCTTGCACTTGGGACAC	0.582													41	118					0	0	0	0	G	81154121	A	G	81154121	3	3	412	1	0	0	0	0	1	0	0	0	17683	159	6	5	210	5	ZCCHC24	10	81154121	Missense_Mutation	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08	25571080	81154121	54380626	74	82331											
RPP30	10556	broad.mit.edu	37	chr10	92656129	92656129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcggtgtccaccaactgccGagcagcgcttctccatggag	7	8	12	14	3	1	0	0	0	1	0	3	2	2	1	4	2	5	2	4	2	1	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:92656129G>A	ENST00000413330.1	+	10	712	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Missense_Mutation_p.R226Q	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	226					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						ACCAACTGCCGAGCAGCGCTT	0.478													22	39					0	0	0	0	A	92656129	G	A	92656129	3	1	412	1	0	0	0	0	1	0	0	0	13697	1058	37	1	715	1	RPP30	10	92656129	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	11502008	92656129	42878618	75	82332											
ATE1	11101	broad.mit.edu	37	chr10	123658387	123658387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattcatcgggtggatccTggtgtatggccacttgatac	8	12	11	10	1	1	1	1	1	0	0	3	2	2	2	2	4	1	1	2	4	2	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:123658387T>C	ENST00000369043.3	-	7	997	c.911A>G	c.(910-912)cAg>cGg	p.Q304R	ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.Q208R|ATE1_ENST00000540606.1_Missense_Mutation_p.Q297R|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000543447.1_Intron	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	304					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGGTGGATCCTGGTGTATGGC	0.418													25	73					0	0	0	0	C	123658387	T	C	123658387	3	2	412	1	0	0	0	0	1	0	0	0	1082	1580	55	5	669	5	ATE1	10	123658387	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	31002258	123658387	11876360	76	82333											
FRG2B	441581	broad.mit.edu	37	chr10	135438982	135438991	+	Frame_Shift_Del	DEL	GTGCAAGCCC	GTGCAAGCCC	-																															tatgccgcttgctgcgcccaGtgcaagccctggaacgtccc																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:135438982_135438991delGTGCAAGCCC	ENST00000443774.1	-	4	501_510	c.452_461delGGGCTTGCAC	c.(451-462)atfs	p.RACT151fs	FRG2B_ENST00000425520.1_Frame_Shift_Del_p.RACT150fs			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	150						nucleus		p.R151M(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCTGCGCCCAGTGCAAGCCCTGGAACGTCC	0.529													26	208	---	---	---	---					-	135438991	GTGCAAGCCC	-	135438982	7	5	412	1	0	1	0	1	0	0	0	0	6095	1029	36	0	381	0	FRG2B	10	135438982	Frame_Shift_Del	DEL	GTGCAAGCCC	TCGA-H7-A6C5-01A-11D-A30E-08	11780595	135438982	95765	77	82334											
PHRF1	57661	broad.mit.edu	37	chr11	607619	607619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actggcagggagggcaccggGcagccagggcgaggcacacg	9	1	19	12	3	0	0	0	0	0	0	0	2	0	1	2	6	1	4	2	6	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:607619G>A	ENST00000264555.5	+	14	2291	c.2163G>A	c.(2161-2163)ggG>ggA	p.G721G	PHRF1_ENST00000533464.1_Silent_p.G717G|PHRF1_ENST00000416188.2_Silent_p.G720G|PHRF1_ENST00000413872.2_Silent_p.G719G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	721							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGGGCACCGGGCAGCCAGGGC	0.736													4	94					0	0	0	0	A	607619	G	A	607619	2	1	412	1	0	0	0	0	0	0	0	1	11933	1190	42	4		4	PHRF1	11	607619	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		607619	134398897	78	82335											
MOB2	81532	broad.mit.edu	37	chr11	1491488	1491488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggaccccgccggcccCgctgcatagcacctcggtga	6	6	12	17	4	0	1	0	1	0	0	1	2	0	2	6	3	2	3	6	3	1	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:1491488C>T	ENST00000329957.6	-	5	910	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	210						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CCGCCGGCCCCGCTGCATAGC	0.677													4	100					0	0	0	0	T	1491488	C	T	1491488	3	4	412	1	0	0	0	0	1	0	0	0	9751	652	23	1	89	1	MOB2	11	1491488	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	883869	1491488	133515028	79	82336											
MOB2	81532	broad.mit.edu	37	chr11	1501650	1501650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggccatcgtctgacacGtctctcctgtgcagaactcg	8	9	9	15	4	2	2	0	1	2	1	6	2	3	2	2	1	2	1	2	1	1	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:1501650G>A	ENST00000329957.6	-	3	527	c.338C>T	c.(337-339)aCg>aTg	p.T113M	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	82						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CGTCTGACACGTCTCTCCTGT	0.572													4	168					0	0	0	0	A	1501650	G	A	1501650	3	1	412	1	0	0	0	0	1	0	0	0	9751	1145	40	1	480	1	MOB2	11	1501650	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	10162	1501650	133504866	80	82337											
AGBL2	79841	broad.mit.edu	37	chr11	47681869	47681869	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatggttctctttggagaGcatgatactgtaaagcctgg	9	15	11	6	0	1	2	0	1	1	1	2	3	1	2	1	3	3	3	1	3	4	6			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:47681869G>T	ENST00000525123.1	-	19	2850	c.2565C>A	c.(2563-2565)tgC>tgA	p.C855*	AGBL2_ENST00000298861.4_Nonsense_Mutation_p.C855*|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.C857*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	855					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCTTTGGAGAGCATGATACTG	0.423													23	66					7.33532e-06	7.91064e-06	1	0	T	47681869	G	T	47681869	4	4	412	1	0	0	0	0	0	1	0	0	376	963	34	4	147	4	AGBL2	11	47681869	Nonsense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	46180219	47681869	87324647	81	82338											
TMEM132A	54972	broad.mit.edu	37	chr11	60696242	60696242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggctccggcgaggagaacGaccctggggagcaggccctc	7	4	17	13	3	0	1	0	0	0	1	2	5	1	2	3	6	2	2	3	6	1	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:60696242G>A	ENST00000005286.4	+	4	829	c.676G>A	c.(676-678)Gac>Aac	p.D226N	TMEM132A_ENST00000453848.2_Missense_Mutation_p.D226N	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	226						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGAGGAGAACGACCCTGGGGA	0.697													6	16					0	0	0	0	A	60696242	G	A	60696242	3	1	412	1	0	0	0	0	1	0	0	0	16139	1058	37	1	690	1	TMEM132A	11	60696242	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	13014373	60696242	74310274	82	82339											
PYGM	5837	broad.mit.edu	37	chr11	64522965	64522965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcagaccagaggcgCatggtgttgacaacattgtt	9	10	13	9	1	0	3	0	1	0	2	0	3	0	3	2	3	1	4	2	3	1	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:64522965C>T	ENST00000164139.3	-	6	1124	c.726G>A	c.(724-726)atG>atA	p.M242I	PYGM_ENST00000377432.3_Missense_Mutation_p.M154I	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	242					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACCAGAGGCGCATGGTGTTGA	0.617													16	49					0	0	0	0	T	64522965	C	T	64522965	3	4	412	1	0	0	0	0	1	0	0	0	12944	710	25	4	1862	4	PYGM	11	64522965	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	3826723	64522965	70483551	83	82340											
FAT3	120114	broad.mit.edu	37	chr11	92532028	92532028	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaacctctccaaggatcActacatgctgatagttaagg	14	9	7	11	0	2	1	1	1	1	0	3	2	2	2	2	2	4	2	2	2	6	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:92532028A>T	ENST00000298047.6	+	9	5866	c.5849A>T	c.(5848-5850)cAc>cTc	p.H1950L	FAT3_ENST00000525166.1_Missense_Mutation_p.H1800L|FAT3_ENST00000409404.2_Missense_Mutation_p.H1950L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1950	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCAAGGATCACTACATGCTG	0.418										TCGA Ovarian(4;0.039)			15	60					0	0	0	0	T	92532028	A	T	92532028	3	4	412	1	0	0	0	0	1	0	0	0	5736	159	6	5	5883	5	FAT3	11	92532028	Missense_Mutation	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08	28009063	92532028	42474488	84	82341											
FAT3	120114	broad.mit.edu	37	chr11	92615974	92615974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcgtgaacgtgttcGgctccttcctctgcaactgc	4	12	10	15	3	1	1	0	1	1	0	5	1	4	1	3	1	5	4	3	1	2	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:92615974G>A	ENST00000298047.6	+	23	12369	c.12352G>A	c.(12352-12354)Ggc>Agc	p.G4118S	FAT3_ENST00000533797.1_Missense_Mutation_p.G453S|FAT3_ENST00000525166.1_Missense_Mutation_p.G3968S|FAT3_ENST00000409404.2_Missense_Mutation_p.G4118S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4118	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACGTGTTCGGCTCCTTCCT	0.642										TCGA Ovarian(4;0.039)			5	11					0	0	0	0	A	92615974	G	A	92615974	3	1	412	1	0	0	0	0	1	0	0	0	5736	1116	39	1	12442	1	FAT3	11	92615974	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	83946	92615974	42390542	85	82342											
CEP164	22897	broad.mit.edu	37	chr11	117267963	117267963	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgagctggccagtgcGcaggaggtggccaaagaccc	9	4	15	13	2	0	2	0	1	0	1	0	3	0	3	4	4	2	2	4	4	1	0	rs149964584	by1000genomes	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:117267963G>T	ENST00000278935.3	+	27	3582	c.3435G>T	c.(3433-3435)gcG>gcT	p.A1145A	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1145					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGCCAGTGCGCAGGAGGTGG	0.617													7	56					0.0381472	0.0388537	1	0	T	117267963	G	T	117267963	2	4	412	1	0	0	0	0	0	0	0	1	3278	1074	38	3		3	CEP164	11	117267963	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	24651989	117267963	17738553	86	82343											
ROBO3	64221	broad.mit.edu	37	chr11	124746185	124746185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcgtccccgccggacCtggagcccgggctggaggtg	5	4	16	16	4	0	0	0	0	0	0	1	3	1	3	6	5	2	1	6	5	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:124746185C>A	ENST00000397801.1	+	17	2800	c.2608C>A	c.(2608-2610)Ctg>Atg	p.L870M	ROBO3_ENST00000538940.1_Missense_Mutation_p.L848M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	870					axon midline choice point recognition	integral to membrane	receptor activity			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)		CCCGCCGGACCTGGAGCCCGG	0.746											OREG0021467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					1	1	1	0	A	124746185	C	A	124746185	3	1	412	1	0	0	0	0	1	0	0	0	13600	680	24	4	2674	4	ROBO3	11	124746185	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	7478222	124746185	10260331	87	82344											
CHD4	1108	broad.mit.edu	37	chr12	6707160	6707160	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagggtccttgttctttcGctttcggcttttctcttcat	2	22	7	10	2	3	0	1	0	2	0	7	0	4	0	1	2	0	3	1	2	1	9			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:6707160G>A	ENST00000309577.6	-	12	1955	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.R595*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.R591*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.R598*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	598					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTGTTCTTTCGCTTTCGGCTT	0.483													76	200					0	0	0	0	A	6707160	G	A	6707160	4	1	412	1	0	0	0	0	0	1	0	0	3356	1095	38	1	4062	1	CHD4	12	6707160	Nonsense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		6707160	127144735	88	82345											
PDE6H	5149	broad.mit.edu	37	chr12	15131063	15131063	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcaagagtaaacctccAaagaaaggtgtgaaagggta	18	7	10	6	0	1	3	1	1	0	2	2	3	2	3	2	2	1	2	2	2	8	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:15131063A>G	ENST00000266395.2	+	2	223	c.117A>G	c.(115-117)ccA>ccG	p.P39P		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	39	Arg/Lys-rich (basic).				visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			endometrium(1)|lung(6)|ovary(1)|skin(2)	10						GTAAACCTCCAAAGAAAGGTG	0.458													10	27					0	0	0	0	G	15131063	A	G	15131063	2	3	412	1	0	0	0	0	0	0	0	1	11721	117	5	5		5	PDE6H	12	15131063	Silent	SNP	A	TCGA-H7-A6C5-01A-11D-A30E-08	8423903	15131063	118720832	89	82346											
IPO8	10526	broad.mit.edu	37	chr12	30837254	30837254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcactaaatctggagaccGaattattccttccacaatgt	12	12	5	12	1	2	1	1	0	1	1	4	3	4	1	4	1	0	0	4	1	5	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:30837254G>A	ENST00000256079.4	-	3	642	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	102	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.R102R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTGGAGACCGAATTATTCCT	0.418													5	120					0	0	0	0	A	30837254	G	A	30837254	3	1	412	1	0	0	0	0	1	0	0	0	7851	1057	37	1	2901	1	IPO8	12	30837254	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	15706191	30837254	103014641	90	82347											
NAV3	89795	broad.mit.edu	37	chr12	78400202	78400202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctaaacaatgtccagattCctccaaaggacctcaatcgt	13	11	5	12	1	2	1	1	0	1	1	6	2	5	2	4	1	1	0	4	1	5	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:78400202C>A	ENST00000397909.2	+	8	1057	c.884C>A	c.(883-885)tCc>tAc	p.S295Y	NAV3_ENST00000536525.2_Missense_Mutation_p.S295Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S295Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S295Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	295						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTCCAGATTCCTCCAAAGGA	0.423										HNSCC(70;0.22)			17	44					2.23348e-06	2.42451e-06	1	0	A	78400202	C	A	78400202	3	1	412	1	0	0	0	0	1	0	0	0	10255	855	30	2	914	2	NAV3	12	78400202	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	47562948	78400202	55451693	91	82348											
RILPL1	353116	broad.mit.edu	37	chr12	123984019	123984019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccttggcgcggatctcGtcgcgttgtttgtccaccac	3	13	11	14	5	1	0	0	0	1	0	5	1	3	1	3	2	0	2	3	2	0	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:123984019G>A	ENST00000376874.4	-	3	760	c.525C>T	c.(523-525)gaC>gaT	p.D175D	RILPL1_ENST00000340724.6_Silent_p.D23D	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	175					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CGCGGATCTCGTCGCGTTGTT	0.622													24	73					0	0	0	0	A	123984019	G	A	123984019	2	1	412	1	0	0	0	0	0	0	0	1	13444	1136	40	1		1	RILPL1	12	123984019	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	45583817	123984019	9867876	92	82349											
CDK8	1024	broad.mit.edu	37	chr13	26959350	26959350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttattattttacagctGacatgggctttgcccgatta	8	19	7	7	1	0	1	0	1	0	0	0	2	0	1	1	1	3	2	1	1	4	8			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr13:26959350G>A	ENST00000381527.3	+	6	1020	c.517G>A	c.(517-519)Gac>Aac	p.D173N	CDK8_ENST00000536792.1_Silent_p.L153L	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	173	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTTTACAGCTGACATGGGCTT	0.333													24	23					0	0	0	0	A	26959350	G	A	26959350	3	1	412	1	0	0	0	0	1	0	0	0	3179	1290	45	2	539	2	CDK8	13	26959350	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		26959350	88210528	93	82350											
WASF3	10810	broad.mit.edu	37	chr13	27256893	27256893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcatcagccagctccaCgcacgcagctcctcctcacc	7	6	6	22	2	2	0	2	0	0	0	5	0	5	0	6	0	4	5	6	0	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr13:27256893C>T	ENST00000361042.4	+	9	1349	c.1124C>T	c.(1123-1125)aCg>aTg	p.T375M	WASF3_ENST00000335327.5_Missense_Mutation_p.T378M			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	378					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCAGCTCCACGCACGCAGCT	0.706													71	61					0	0	0	0	T	27256893	C	T	27256893	3	4	412	1	0	0	0	0	1	0	0	0	17350	536	19	1	1159	1	WASF3	13	27256893	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	297543	27256893	87912985	94	82351											
PCK2	5106	broad.mit.edu	37	chr14	24572907	24572907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggctttggggagaatgctCgggtgctagactggatctgc	7	10	16	8	1	1	2	0	0	1	2	2	4	1	3	0	5	3	3	0	5	2	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:24572907C>T	ENST00000545054.2	+	10	2173	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.R387W|PCK2_ENST00000561286.1_Missense_Mutation_p.R419W|PCK2_ENST00000216780.4_Missense_Mutation_p.R553W|NRL_ENST00000561028.1_Intron			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	553					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGAGAATGCTCGGGTGCTAGA	0.637													18	86					0	0	0	0	T	24572907	C	T	24572907	3	4	412	1	0	0	0	0	1	0	0	0	11653	875	31	1	1787	1	PCK2	14	24572907	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		24572907	82776633	95	82352											
FOXG1	2290	broad.mit.edu	37	chr14	29237068	29237068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcatcatgatggccatcCggcagagccccgagaagcgg	9	5	13	14	4	2	3	2	1	0	2	3	4	3	3	4	3	2	2	4	3	1	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:29237068C>T	ENST00000382535.3	+	2	952	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	FOXG1_ENST00000313071.4_Missense_Mutation_p.R195W			P55316	FOXG1_HUMAN	forkhead box G1	195					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GATGGCCATCCGGCAGAGCCC	0.602													20	39					0	0	0	0	T	29237068	C	T	29237068	3	4	412	1	0	0	0	0	1	0	0	0	6054	643	23	1	585	1	FOXG1	14	29237068	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	4664161	29237068	78112472	96	82353											
PELI2	57161	broad.mit.edu	37	chr14	56763458	56763458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggcaggagattaacgcCgcccggcctcagtgtcctgt	6	8	12	15	4	1	1	1	0	0	1	3	2	3	1	5	3	1	1	5	3	1	1	rs148290454	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:56763458C>T	ENST00000267460.4	+	6	1123	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	279					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AGATTAACGCCGCCCGGCCTC	0.572													21	33					0	0	0	0	T	56763458	C	T	56763458	2	4	412	1	0	0	0	0	0	0	0	1	11793	639	23	1		1	PELI2	14	56763458	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	27526390	56763458	50586082	97	82354											
RORA	6095	broad.mit.edu	37	chr15	60794985	60794985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttgaagacgtcggggctgGcatacttcccatcaaagtac	11	10	10	10	2	1	2	1	1	0	1	3	2	2	2	1	3	2	3	1	3	4	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:60794985G>A	ENST00000335670.6	-	8	1257	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	RORA_ENST00000309157.4_Missense_Mutation_p.A411V|RORA_ENST00000261523.5_Missense_Mutation_p.A419V|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.A331V	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	419	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCGGGGCTGGCATACTTCCC	0.473													5	445					0	0	0	0	A	60794985	G	A	60794985	3	1	412	1	0	0	0	0	1	0	0	0	13613	1203	42	4	430	4	RORA	15	60794985	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		60794985	41736407	98	82355											
CA12	771	broad.mit.edu	37	chr15	63637703	63637703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagtgctgtccgctgacGgtgtgctcagagccgtgcgg	5	8	17	11	5	1	2	1	1	0	1	2	3	2	2	2	2	4	3	2	2	1	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:63637703G>A	ENST00000178638.3	-	4	842	c.402C>T	c.(400-402)acC>acT	p.T134T	CA12_ENST00000344366.3_Silent_p.T134T|CA12_ENST00000422263.2_Silent_p.T74T	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	134					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GTCCGCTGACGGTGTGCTCAG	0.652													8	31					0	0	0	0	A	63637703	G	A	63637703	2	1	412	1	0	0	0	0	0	0	0	1	2538	1103	39	1		1	CA12	15	63637703	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	2842718	63637703	38893689	99	82356											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164614	85164614	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacaaatgtaccgactgtggGcagaggttcagccagagttc	11	9	12	9	1	1	2	1	0	0	2	2	3	1	2	2	2	3	4	2	2	3	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:85164614G>A	ENST00000448803.2	+	3	1480	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	ZSCAN2_ENST00000327179.6_Silent_p.G395G|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Silent_p.G396G|ZSCAN2_ENST00000358472.3_Silent_p.G246G|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	396					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCGACTGTGGGCAGAGGTTCA	0.507													5	186					0	0	0	0	A	85164614	G	A	85164614	2	1	412	1	0	0	0	0	0	0	0	1	18323	1190	42	4		4	ZSCAN2	15	85164614	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	21526911	85164614	17366778	100	82357											
KIF7	374654	broad.mit.edu	37	chr15	90172216	90172216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagttacccctgctgtGgcctacagcgttcacaccgc	7	8	11	15	3	1	0	1	0	0	0	1	2	1	1	4	2	4	3	4	2	2	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:90172216G>T	ENST00000394412.3	-	18	3731	c.3655C>A	c.(3655-3657)Cac>Aac	p.H1219N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1219					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCCTGCTGTGGCCTACAGCG	0.537													44	101					4.01344e-20	4.97908e-20	1	0	T	90172216	G	T	90172216	3	4	412	1	0	0	0	0	1	0	0	0	8360	1348	47	4	384	4	KIF7	15	90172216	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	5007602	90172216	12359176	101	82358											
SRRM2	23524	broad.mit.edu	37	chr16	2819133	2819133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcctcctcctcctcCtcctcctcttcttcctcctc	1	17	0	23	0	4	0	1	0	3	0	14	0	13	0	9	0	0	0	9	0	0	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:2819133C>T	ENST00000301740.8	+	12	8418	c.7869C>T	c.(7867-7869)tcC>tcT	p.S2623S	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2623	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cctcctcctcctcctcctctt	0.587													6	65					0	0	0	0	T	2819133	C	T	2819133	2	4	412	1	0	0	0	0	0	0	0	1	15259	668	24	4		4	SRRM2	16	2819133	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		2819133	87535620	102	82359			1	119		2	2	13	N	T_C	5.155454e-05
SRRM2	23524	broad.mit.edu	37	chr16	2819145	2819145	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcctcttcTtcctcctcctcttcctcttc	0	18	0	23	0	4	0	0	0	4	0	14	0	13	0	9	0	0	0	9	0	0	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:2819145T>C	ENST00000301740.8	+	12	8430	c.7881T>C	c.(7879-7881)tcT>tcC	p.S2627S	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2627	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cctcctcttcttcctcctcct	0.592													12	69					0	0	0	0	C	2819145	T	C	2819145	2	2	412	1	0	0	0	0	0	0	0	1	15259	1596	56	5		5	SRRM2	16	2819145	Silent	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	12	2819145	87535608	103	82360			1	119		2	2	13	N	T_C	5.155454e-05
ADCY9	115	broad.mit.edu	37	chr16	4165375	4165375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcgcacgctgttgctgtcCccgctggagtcgcagctcac	5	8	12	16	5	1	0	1	0	0	0	3	1	2	1	2	1	2	7	2	1	0	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:4165375C>T	ENST00000294016.3	-	2	607	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	23					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTTGCTGTCCCCGCTGGAGT	0.642													8	20					0	0	0	0	T	4165375	C	T	4165375	2	4	412	1	0	0	0	0	0	0	0	1	301	610	22	4		4	ADCY9	16	4165375	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	1346230	4165375	86189378	104	82361											
SALL1	6299	broad.mit.edu	37	chr16	51173850	51173850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaatgctggactctgagCgggggcatagcacgatggac	10	6	16	9	2	1	1	0	1	1	0	1	5	1	4	0	5	3	3	0	5	2	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:51173850C>T	ENST00000440970.1	-	2	2423	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.P761P|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	761					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGACTCTGAGCGGGGGCATAG	0.552													18	80					0	0	0	0	T	51173850	C	T	51173850	2	4	412	1	0	0	0	0	0	0	0	1	13895	755	27	1		1	SALL1	16	51173850	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	47008475	51173850	39180903	105	82362											
SLC6A2	6530	broad.mit.edu	37	chr16	55706002	55706002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacagccccaactgtaccGaccccaagctcctcaatggc	11	5	8	17	1	1	0	1	0	0	0	2	2	2	1	6	2	5	2	6	2	5	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:55706002G>A	ENST00000379906.2	+	3	814	c.559G>A	c.(559-561)Gac>Aac	p.D187N	SLC6A2_ENST00000414754.3_Missense_Mutation_p.D187N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D82N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D187N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D187N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	187					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAACTGTACCGACCCCAAGCT	0.567													19	57					0	0	0	0	A	55706002	G	A	55706002	3	1	412	1	0	0	0	0	1	0	0	0	14771	1058	37	1	660	1	SLC6A2	16	55706002	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	4532152	55706002	34648751	106	82363											
KCNG4	93107	broad.mit.edu	37	chr16	84255844	84255844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatgtgcatgataggcaaGgctgggccctccaggattag	10	9	13	9	0	0	1	0	1	0	0	1	2	1	2	2	4	2	3	2	4	4	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:84255844G>A	ENST00000308251.4	-	3	1607	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	513						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGATAGGCAAGGCTGGGCCCT	0.542													77	215					0	0	0	0	A	84255844	G	A	84255844	2	1	412	1	0	0	0	0	0	0	0	1	8083	987	35	4		4	KCNG4	16	84255844	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	28549842	84255844	6098909	107	82364											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs68140816		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:7579311C>A	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			40	60					6.07928e-31	7.83657e-31	1	0	A	7579311	C	A	7579311	5	1	412	1	0	0	0	0	0	0	1	0	16476	521	18	4	926	4	TP53	17	7579311	Splice_Site	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		7579311	73615899	108	82365											
GIT1	28964	broad.mit.edu	37	chr17	27910609	27910609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgtcacacaccagcacaccCctgctgatggatgcccagcc	9	6	8	18	1	1	1	1	1	0	0	2	2	1	2	5	1	4	2	5	1	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:27910609C>A	ENST00000225394.3	-	2	326	c.78G>T	c.(76-78)agG>agT	p.R26S	GIT1_ENST00000394869.3_Missense_Mutation_p.R26S|GIT1_ENST00000581348.1_Missense_Mutation_p.R26S|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.R26S	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	26	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CCAGCACACCCCTGCTGATGG	0.667													6	14					0.00198382	0.00207171	1	0	A	27910609	C	A	27910609	3	1	412	1	0	0	0	0	1	0	0	0	6447	622	22	4	2314	4	GIT1	17	27910609	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	20331298	27910609	53284601	109	82366											
SPAG9	9043	broad.mit.edu	37	chr17	49063101	49063101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtttaatggaatggagaCatttcctccactgggctaca	12	12	9	8	0	0	1	0	0	0	1	2	3	2	2	2	3	1	2	2	3	4	5	rs139856934		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:49063101C>T	ENST00000262013.7	-	23	3186	c.2978G>A	c.(2977-2979)tGt>tAt	p.C993Y	SPAG9_ENST00000505279.1_Missense_Mutation_p.C983Y|SPAG9_ENST00000510283.1_Missense_Mutation_p.C836Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.C979Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	993					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGAATGGAGACATTTCCTCCA	0.328													6	25					0	0	0	0	T	49063101	C	T	49063101	3	4	412	1	0	0	0	0	1	0	0	0	15075	478	17	4	1019	4	SPAG9	17	49063101	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	21152492	49063101	32132109	110	82367											
RNF213	57674	broad.mit.edu	37	chr17	78319549	78319549	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaggctgaaaatgtggccTtcgccaataaggaccaacat	13	7	12	9	1	0	1	0	1	0	0	1	3	0	3	3	4	1	1	3	4	5	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:78319549T>G	ENST00000582970.1	+	29	7557	c.7414T>G	c.(7414-7416)Ttc>Gtc	p.F2472V	RNF213_ENST00000508628.2_Missense_Mutation_p.F2521V|RNF213_ENST00000336301.6_Missense_Mutation_p.F545V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			AAATGTGGCCTTCGCCAATAA	0.468													44	103					0	0	0	0	G	78319549	T	G	78319549	3	3	412	1	0	0	0	0	1	0	0	0	13562	1609	56	5	7843	5	RNF213	17	78319549	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	29256448	78319549	2875661	111	82368											
RNF213	57674	broad.mit.edu	37	chr17	78319809	78319809	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccgacaggctgggctcCattcctctgaggcagctggt	6	8	14	13	2	1	1	0	1	1	0	3	2	3	1	3	5	1	4	3	5	0	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:78319809C>G	ENST00000582970.1	+	29	7817	c.7674C>G	c.(7672-7674)tcC>tcG	p.S2558S	RNF213_ENST00000508628.2_Silent_p.S2607S|RNF213_ENST00000336301.6_Silent_p.S631S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			GGCTGGGCTCCATTCCTCTGA	0.567													26	67					0	0	0	0	G	78319809	C	G	78319809	2	3	412	1	0	0	0	0	0	0	0	1	13562	581	21	4		4	RNF213	17	78319809	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	260	78319809	2875401	112	82369											
LRRC45	201255	broad.mit.edu	37	chr17	79982595	79982595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttcgggctgcaggggcCgaggctctgggaaaactcct	8	7	14	12	2	1	0	0	0	1	0	3	2	2	1	3	5	3	3	3	5	3	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:79982595C>T	ENST00000306688.3	+	3	651	c.309C>T	c.(307-309)gcC>gcT	p.A103A	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	103						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCAGGGGCCGAGGCTCTGG	0.627													20	71					0	0	0	0	T	79982595	C	T	79982595	2	4	412	1	0	0	0	0	0	0	0	1	9066	639	23	1		1	LRRC45	17	79982595	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	1662786	79982595	1212615	113	82370											
CETN1	1068	broad.mit.edu	37	chr18	580870	580870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgatcgggatggggaCggcgaagtgaacgaggagga	12	4	20	5	4	0	2	0	2	0	0	1	9	0	6	0	6	2	1	0	6	3	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr18:580870C>T	ENST00000327228.3	+	1	504	c.462C>T	c.(460-462)gaC>gaT	p.D154D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	154	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGATGGGGACGGCGAAGTGA	0.542													43	57					0	0	0	0	T	580870	C	T	580870	2	4	412	1	0	0	0	0	0	0	0	1	3303	535	19	1		1	CETN1	18	580870	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08		580870	77496378	114	82371											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054877	4054877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgcacacgtggctcacGgcggggatctccagcaggcg	6	5	16	14	6	2	0	1	0	1	0	4	1	2	1	1	6	1	3	1	6	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:4054877G>A	ENST00000322357.4	-	2	632	c.354C>T	c.(352-354)gcC>gcT	p.A118A	ZBTB7A_ENST00000601588.1_Silent_p.A118A	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	118					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGCTCACGGCGGGGATCT	0.682													8	10					0	0	0	0	A	4054877	G	A	4054877	2	1	412	1	0	0	0	0	0	0	0	1	17648	1103	39	1		1	ZBTB7A	19	4054877	Silent	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		4054877	55074106	115	82372											
RAD23A	5886	broad.mit.edu	37	chr19	13058677	13058691	+	In_Frame_Del	DEL	GAGAAGATAGAAGCT	GAGAAGATAGAAGCT	-																															tctaggtgaaggtgctaaagGagaagatagaagctgagaag																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:13058677_13058691delGAGAAGATAGAAGCT	ENST00000586534.1	+	2	149_163	c.88_102delGAGAAGATAGAAGCT	c.(88-102)del	p.EKIEA30del	RAD23A_ENST00000316856.3_In_Frame_Del_p.EKIEA30del|RAD23A_ENST00000592268.1_In_Frame_Del_p.EKIEA30del|RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	30	Ubiquitin-like.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTGCTAAAGGAGAAGATAGAAGCTGAGAAGGGTC	0.512								Nucleotide excision repair (NER)					14	115	---	---	---	---					-	13058691	GAGAAGATAGAAGCT	-	13058677	7	5	412	1	0	1	0	1	0	0	0	0	13064	1175	41	0	94	0	RAD23A	19	13058677	In_Frame_Del	DEL	GAGAAGATAGAAGCT	TCGA-H7-A6C5-01A-11D-A30E-08	9003800	13058677	46070306	116	82373											
ANO8	57719	broad.mit.edu	37	chr19	17434359	17434364	+	In_Frame_Del	DEL	GGGGCT	GGGGCT	-																															ctgggccagcacacggcctgGgggctggggctggggctagg																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:17434359_17434364delGGGGCT	ENST00000159087.4	-	18	3819_3824	c.3661_3666delAGCCCC	c.(3661-3666)del	p.SP1221del		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1221	Pro-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ACACGGCCTGggggctggggctgggg	0.675													15	42	---	---	---	---					-	17434364	GGGGCT	-	17434359	7	5	412	1	0	1	0	1	0	0	0	0	702	1219	43	0	36	0	ANO8	19	17434359	In_Frame_Del	DEL	GGGGCT	TCGA-H7-A6C5-01A-11D-A30E-08	4375682	17434359	41694624	117	82374											
ZFP36	7538	broad.mit.edu	37	chr19	39898449	39898449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggactgagtccagcccaGgctggggctcctcgggaccc	6	5	16	14	1	0	1	0	1	0	0	3	4	2	3	4	5	1	2	4	5	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:39898449G>A	ENST00000597629.1	+	2	183	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Missense_Mutation_p.G31S			P26651	TTP_HUMAN	ZFP36 ring finger protein	31			P -> S (in dbSNP:rs17878633).		positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCCAGCCCAGGCTGGGGCTC	0.677													72	138					0	0	0	0	A	39898449	G	A	39898449	3	1	412	1	0	0	0	0	1	0	0	0	17740	1000	35	4	97	4	ZFP36	19	39898449	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	22464090	39898449	19230534	118	82375											
PSG6	5675	broad.mit.edu	37	chr19	43411907	43411907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catttagccaccaaatgtagGtgtagttccgactcttaggt	10	13	9	9	1	1	0	0	0	1	0	2	1	2	0	3	2	1	3	3	2	5	6			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:43411907G>A	ENST00000187910.2	-	4	871	c.806C>T	c.(805-807)aCc>aTc	p.T269I	PSG6_ENST00000292125.2_Missense_Mutation_p.T269I|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCAAATGTAGGTGTAGTTCCG	0.493													108	290					0	0	0	0	A	43411907	G	A	43411907	3	1	412	1	0	0	0	0	1	0	0	0	12738	1261	44	4	552	4	PSG6	19	43411907	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	3513458	43411907	15717076	119	82376											
BCAT2	587	broad.mit.edu	37	chr19	49299953	49299953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcttcatggtgatcgtgCgctccaccacccggaactca	8	9	9	15	3	2	1	2	1	0	0	4	2	3	2	3	2	3	2	3	2	1	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:49299953C>T	ENST00000402551.1	-	10	1447	c.827G>A	c.(826-828)cGc>cAc	p.R276H	BCAT2_ENST00000598162.1_Missense_Mutation_p.R316H|BCAT2_ENST00000597011.1_Missense_Mutation_p.R276H|BCAT2_ENST00000316273.6_Missense_Mutation_p.R316H|BCAT2_ENST00000545387.2_Missense_Mutation_p.R224H|BCAT2_ENST00000599246.1_Missense_Mutation_p.R224H			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	316						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GGTGATCGTGCGCTCCACCAC	0.662													4	138					0	0	0	0	T	49299953	C	T	49299953	3	4	412	1	0	0	0	0	1	0	0	0	1359	768	27	1	243	1	BCAT2	19	49299953	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	5888046	49299953	9829030	120	82377											
NLRP11	204801	broad.mit.edu	37	chr19	56303838	56303838	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacagcagaagactaacCtgcacacagagaagagtgag	17	4	12	8	0	0	6	0	2	0	5	0	8	0	6	1	0	3	2	1	0	3	1			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:56303838C>A	ENST00000443188.1	-	9	3053		c.e9-1		NLRP11_ENST00000589824.2_Splice_Site|NLRP11_ENST00000589093.1_Splice_Site|NLRP11_ENST00000360133.3_Splice_Site|NLRP11_ENST00000592953.1_Splice_Site	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								ATP binding			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)		GAAGACTAACCTGCACACAGA	0.557													35	68					1.06647e-15	1.29388e-15	1	0	A	56303838	C	A	56303838	5	1	412	1	0	0	0	0	0	0	1	0	10543	695	24	4	775	4	NLRP11	19	56303838	Splice_Site	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	7003885	56303838	2825145	121	82378											
GGTLC1	92086	broad.mit.edu	37	chr20	23965899	23965899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagtccgaggcagctGcccagccaccagccatgcgg	7	5	13	16	2	0	0	0	0	0	0	2	2	2	1	6	3	5	2	6	3	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr20:23965899G>T	ENST00000335694.4	-	6	836	c.632C>A	c.(631-633)gCa>gAa	p.A211E	GGTLC1_ENST00000278765.4_Missense_Mutation_p.A211E|GGTLC1_ENST00000286890.4_Missense_Mutation_p.A211E	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	211							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGAGGCAGCTGCCCAGCCACC	0.592													32	70					2.85442e-18	3.51477e-18	1	0	T	23965899	G	T	23965899	3	4	412	1	0	0	0	0	1	0	0	0	6416	1319	46	4	49	4	GGTLC1	20	23965899	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		23965899	39059621	122	82379											
DLGAP4	22839	broad.mit.edu	37	chr20	35060533	35060533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggtgagagccctggccGcatccgccacctggtccact	5	7	12	17	3	0	1	0	1	0	1	2	2	2	1	7	3	1	1	7	3	0	0			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr20:35060533G>A	ENST00000373913.3	+	3	893	c.413G>A	c.(412-414)cGc>cAc	p.R138H	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R138H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R138H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R138H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	138					cell-cell signaling	membrane	protein binding	p.R138L(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)				AGCCCTGGCCGCATCCGCCAC	0.632													4	154					0	0	0	0	A	35060533	G	A	35060533	3	1	412	1	0	0	0	0	1	0	0	0	4599	1087	38	1	415	1	DLGAP4	20	35060533	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	11094634	35060533	27964987	123	82380											
BAGE2	85319	broad.mit.edu	37	chr21	11039291	11039291	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacagtgatctggtgtGtaacgacttcaatgttttct	8	15	10	8	1	3	1	1	1	2	0	3	2	3	1	0	1	2	4	0	1	2	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr21:11039291G>T	ENST00000470054.1	-	0	912									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)		GATCTGGTGTGTAACGACTTC	0.378													10	249					0.0692343	0.0700838	1	0	T	11039291	G	T	11039291	1	4	412	0	1	0	0	0	0	0	0	0	1296	1392	48	4		4	BAGE2	21	11039291	RNA	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		11039291	37090604	124	82381											
RIPK4	54101	broad.mit.edu	37	chr21	43171260	43171260	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcggcatgtcacacacctgTatacatcgtgcttggtgtcg	7	11	12	11	3	1	0	1	0	0	0	3	0	1	0	1	3	2	3	1	3	2	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr21:43171260T>C	ENST00000352483.2	-	3	684	c.620A>G	c.(619-621)tAc>tGc	p.Y207C	RIPK4_ENST00000542057.1_Missense_Mutation_p.Y144C|RIPK4_ENST00000544709.1_Missense_Mutation_p.Y144C|RIPK4_ENST00000332512.3_Missense_Mutation_p.Y207C			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	207						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACACACCTGTATACATCGTG	0.587													20	34					0	0	0	0	C	43171260	T	C	43171260	3	2	412	1	0	0	0	0	1	0	0	0	13468	1638	57	5	1758	5	RIPK4	21	43171260	Missense_Mutation	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08	32131969	43171260	4958635	125	82382											
SFI1	9814	broad.mit.edu	37	chr22	31904325	31904325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaatttccatcaaaaaGtgattaagcagagaatggag	17	8	9	7	0	1	2	1	1	0	1	2	4	2	3	2	1	1	1	2	1	5	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:31904325G>A	ENST00000432498.1	+	2	448	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	SFI1_ENST00000540643.1_Missense_Mutation_p.V19M|SFI1_ENST00000443326.1_Missense_Mutation_p.V19M|SFI1_ENST00000443011.1_Missense_Mutation_p.V19M|SFI1_ENST00000414585.1_Missense_Mutation_p.V19M|SFI1_ENST00000400288.2_Missense_Mutation_p.V19M|SFI1_ENST00000400289.1_Missense_Mutation_p.V19M	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	19					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCATCAAAAAGTGATTAAGCA	0.343													11	38					0	0	0	0	A	31904325	G	A	31904325	3	1	412	1	0	0	0	0	1	0	0	0	14243	1029	36	4	57	4	SFI1	22	31904325	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08		31904325	19400241	126	82383											
LARGE	9215	broad.mit.edu	37	chr22	33780180	33780180	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacctggccactcacctGgtcagctaaggatgtagaga	11	8	11	11	1	2	1	2	0	0	1	3	4	2	2	3	3	2	2	3	3	3	2			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:33780180G>A	ENST00000354992.2	-	9	1574	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q335*|LARGE_ENST00000452586.2_Nonsense_Mutation_p.Q134*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q335*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	335					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCACTCACCTGGTCAGCTAAG	0.483													19	138					0	0	0	0	A	33780180	G	A	33780180	4	1	412	1	0	0	0	0	0	1	0	0	8680	1357	47	4	1299	4	LARGE	22	33780180	Nonsense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	1875855	33780180	17524386	127	82384											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387545	39387545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcgcatcttcgctgcccGcatctatgattacgaccccc	7	10	7	17	4	2	1	0	1	2	0	3	2	2	1	3	0	3	3	3	0	2	3			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:39387545G>A	ENST00000402182.3	+	6	987	c.932G>A	c.(931-933)cGc>cAc	p.R311H	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R286H|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R311H			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	311					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TTCGCTGCCCGCATCTATGAT	0.572													5	260					0	0	0	0	A	39387545	G	A	39387545	3	1	412	1	0	0	0	0	1	0	0	0	792	1087	38	1	954	1	APOBEC3B	22	39387545	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	5607365	39387545	11917021	128	82385											
ADSL	158	broad.mit.edu	37	chr22	40745955	40745955	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacatgatgtgatggctcaCgtgcacacatttggccactg	9	10	11	11	2	1	2	1	2	0	0	1	3	1	2	1	2	1	2	1	2	0	1	rs148303726		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:40745955C>T	ENST00000216194.7	+	2	329	c.273C>T	c.(271-273)caC>caT	p.H91H	ADSL_ENST00000454266.2_Silent_p.H91H|ADSL_ENST00000342312.6_Silent_p.H91H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	91					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGATGGCTCACGTGCACACAT	0.468													4	81					0	0	0	0	T	40745955	C	T	40745955	2	4	412	1	0	0	0	0	0	0	0	1	346	535	19	1		1	ADSL	22	40745955	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	1358410	40745955	10558611	129	82386											
AMELX	265	broad.mit.edu	37	chrX	11314928	11314928	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcctgggcaccctggttaTatcaacttcagctatgaggt	9	12	9	11	0	2	1	2	1	0	0	3	1	3	1	2	3	2	3	2	3	4	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:11314928T>C	ENST00000380712.3	+	3	152	c.84T>C	c.(82-84)taT>taC	p.Y28Y	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Silent_p.Y28Y	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	28					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ACCCTGGTTATATCAACTTCA	0.433													32	21					0	0	0	0	C	11314928	T	C	11314928	2	2	412	1	0	0	0	0	0	0	0	1	569	1413	49	5		5	AMELX	23	11314928	Silent	SNP	T	TCGA-H7-A6C5-01A-11D-A30E-08		11314928	143955632	130	82387											
IL13RA2	3598	broad.mit.edu	37	chrX	114239848	114239848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaatggtagccagaaaCgtagcaaagttttcttcgat	15	10	8	8	2	1	1	0	0	1	1	2	2	1	1	2	1	4	4	2	1	6	5			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:114239848C>T	ENST00000371936.1	-	10	1277	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	IL13RA2_ENST00000243213.1_Missense_Mutation_p.R343H			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	343						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TAGCCAGAAACGTAGCAAAGT	0.358													46	26					0	0	0	0	T	114239848	C	T	114239848	3	4	412	1	0	0	0	0	1	0	0	0	7683	536	19	1	122	1	IL13RA2	23	114239848	Missense_Mutation	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	102924920	114239848	41030712	131	82388											
CD40LG	959	broad.mit.edu	37	chrX	135741255	135741255	+	Frame_Shift_Del	DEL	A	A	-																															caacaacttggtaaccctggAaaatgggaaacagctgaccg																										TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:135741255delA	ENST00000370629.2	+	5	523	c.467delA	c.(466-468)gafs	p.E156fs	CD40LG_ENST00000370628.2_Frame_Shift_Del_p.E135fs	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	156					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GTAACCCTGGAAAATGGGAAA	0.438									Immune Deficiency with Hyper-IgM				14	465	---	---	---	---					-	135741255	A	-	135741255	7	5	412	1	0	1	0	1	0	0	0	0	3045	246	9	0	485	0	CD40LG	23	135741255	Frame_Shift_Del	DEL	A	TCGA-H7-A6C5-01A-11D-A30E-08	21501407	135741255	19529305	132	82389											
MCF2	4168	broad.mit.edu	37	chrX	138689864	138689864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatacttctttaaaacatcCaagctattgccattgtccaa	13	13	5	10	0	1	0	0	0	1	0	3	1	3	1	3	1	4	1	3	1	6	7			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:138689864C>T	ENST00000520602.1	-	15	1941	c.1656G>A	c.(1654-1656)ttG>ttA	p.L552L	MCF2_ENST00000519895.1_Silent_p.L568L|MCF2_ENST00000414978.1_Silent_p.L552L|MCF2_ENST00000536274.1_Silent_p.L453L|MCF2_ENST00000338585.6_Silent_p.L508L|MCF2_ENST00000370576.4_Silent_p.L492L|MCF2_ENST00000370578.4_Silent_p.L637L|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370573.4_Silent_p.L492L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	492	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTAAAACATCCAAGCTATTGC	0.358													27	14					0	0	0	0	T	138689864	C	T	138689864	2	4	412	1	0	0	0	0	0	0	0	1	9447	593	21	4		4	MCF2	23	138689864	Silent	SNP	C	TCGA-H7-A6C5-01A-11D-A30E-08	2948609	138689864	16580696	133	82390											
CNGA2	1260	broad.mit.edu	37	chrX	150912536	150912536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctggaagctgctttggcGagatcagtatccttaacatt	9	12	11	9	2	1	1	1	0	0	1	2	3	2	2	1	3	3	4	1	3	3	4			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:150912536G>A	ENST00000329903.4	+	6	1594	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	521					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTTGGCGAGATCAGTAT	0.507													93	46					0	0	0	0	A	150912536	G	A	150912536	3	1	412	1	0	0	0	0	1	0	0	0	3627	1059	37	1	1583	1	CNGA2	23	150912536	Missense_Mutation	SNP	G	TCGA-H7-A6C5-01A-11D-A30E-08	12222672	150912536	4358024	134	82391											
YARS	8565	broad.mit.edu	37	chr1	33263385	33263385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgcaaaggtgaaaatCtttctctgatcaatgcctcc	10	14	6	11	0	4	2	1	2	3	0	7	2	5	2	2	1	2	1	2	1	4	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:33263385C>G	ENST00000373477.4	-	5	1478	c.570G>C	c.(568-570)aaG>aaC	p.K190N		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	190					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGGTGAAAATCTTTCTCTGAT	0.383													20	99					0	0	0	0	G	33263385	C	G	33263385	3	3	413	1	0	0	0	0	1	0	0	0	17563	912	32	2	1052	2	YARS	1	33263385	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08		33263385	215987236	1	82392											
STIL	6491	broad.mit.edu	37	chr1	47746154	47746154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaggctataggactacttGaagaacagaatgcattacag	16	9	9	7	0	1	3	1	1	0	2	1	4	1	4	0	2	4	2	0	2	8	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:47746154G>A	ENST00000360380.3	-	13	2339	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L	STIL_ENST00000396221.2_Missense_Mutation_p.S659L|STIL_ENST00000243182.6_Missense_Mutation_p.S659L|STIL_ENST00000337817.5_Missense_Mutation_p.S659L|STIL_ENST00000371877.3_Missense_Mutation_p.S659L			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	659	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol		p.S659L(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)				AGGACTACTTGAAGAACAGAA	0.468													16	148					0	0	0	0	A	47746154	G	A	47746154	3	1	413	1	0	0	0	0	1	0	0	0	15372	1294	45	2	1914	2	STIL	1	47746154	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	14482769	47746154	201504467	2	82393											
SPATA6	54558	broad.mit.edu	37	chr1	48825437	48825437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctcccatggggtgtcctGataacctgttttaaaaatta	10	15	7	9	0	1	1	0	1	1	0	4	1	3	1	3	2	1	1	3	2	5	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:48825437G>C	ENST00000371847.3	-	10	1079	c.915C>G	c.(913-915)atC>atG	p.I305M	SPATA6_ENST00000371843.3_Missense_Mutation_p.I305M|SPATA6_ENST00000396199.3_Missense_Mutation_p.I233M	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	305					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGGGTGTCCTGATAACCTGTT	0.348													8	54					0	0	0	0	C	48825437	G	C	48825437	3	2	413	1	0	0	0	0	1	0	0	0	15103	1280	45	2	567	2	SPATA6	1	48825437	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	1079283	48825437	200425184	3	82394											
PRKAA2	5563	broad.mit.edu	37	chr1	57161755	57161755	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttatatcccagaatatctCaatcgttctgtcgccactct	9	16	4	12	2	3	1	1	0	3	1	7	1	4	1	2	0	0	1	2	0	5	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:57161755C>G	ENST00000371244.4	+	6	777	c.711C>G	c.(709-711)ctC>ctG	p.L237L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	237	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CAGAATATCTCAATCGTTCTG	0.423													75	463					0	0	0	0	G	57161755	C	G	57161755	2	3	413	1	0	0	0	0	0	0	0	1	12574	813	29	2		2	PRKAA2	1	57161755	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	8336318	57161755	192088866	4	82395											
LHX8	431707	broad.mit.edu	37	chr1	75602909	75602909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaagtgtgtgtgcaacaGttgcggcctggagatcgtgg	7	10	17	7	2	0	1	0	0	0	1	1	2	0	1	1	4	3	3	1	4	2	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:75602909G>T	ENST00000294638.5	+	4	894	c.230G>T	c.(229-231)aGt>aTt	p.S77I	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.S67I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	77	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GTGTGCAACAGTTGCGGCCTG	0.662													5	36					0.000602214	0.000612336	1	0	T	75602909	G	T	75602909	3	4	413	1	0	0	0	0	1	0	0	0	8830	1029	36	4	240	4	LHX8	1	75602909	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	18441154	75602909	173647712	5	82396											
COL11A1	1301	broad.mit.edu	37	chr1	103412503	103412503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgacccacgttctcCtggtgagccctagtatacag	8	10	9	14	1	1	2	0	2	1	0	2	2	1	2	4	1	3	3	4	1	3	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:103412503C>T	ENST00000358392.2	-	42	3531	c.3214G>A	c.(3214-3216)Gga>Aga	p.G1072R	COL11A1_ENST00000512756.1_Missense_Mutation_p.G944R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1060R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1021R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1060	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G1072*(1)|p.G1060*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCACGTTCTCCTGGTGAGCCC	0.468													9	29					0	0	0	0	T	103412503	C	T	103412503	3	4	413	1	0	0	0	0	1	0	0	0	3697	690	24	4	2346	4	COL11A1	1	103412503	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	27809594	103412503	145838118	6	82397											
ACP6	51205	broad.mit.edu	37	chr1	147124425	147124425	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagctgatcagcttccaTggaacctgcaggagcccatc	9	8	11	13	0	1	1	1	1	0	0	3	3	2	3	3	3	5	4	3	3	1	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:147124425T>G	ENST00000392988.2	-	7	999	c.806A>C	c.(805-807)cAt>cCt	p.H269P	ACP6_ENST00000369238.5_Intron			Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	0					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCAGCTTCCATGGAACCTGCA	0.483													10	71					0	0	0	0	G	147124425	T	G	147124425	3	3	413	1	0	0	0	0	1	0	0	0	165	1479	51	5		5	ACP6	1	147124425	Missense_Mutation	SNP	T	TCGA-H7-A76A-01A-51D-A34J-08	43711922	147124425	102126196	7	82398											
LAMC2	3918	broad.mit.edu	37	chr1	183208566	183208566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagagactctcctacatCagccagaaggtttcagatgc	13	9	9	10	0	3	4	2	1	1	3	4	5	3	4	2	1	3	1	2	1	3	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:183208566C>T	ENST00000264144.4	+	20	3002	c.2937C>T	c.(2935-2937)atC>atT	p.I979I	LAMC2_ENST00000493293.1_Silent_p.I979I	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	979	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCTCCTACATCAGCCAGAAGG	0.517													34	203					0	0	0	0	T	183208566	C	T	183208566	2	4	413	1	0	0	0	0	0	0	0	1	8668	816	29	2		2	LAMC2	1	183208566	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	36084141	183208566	66042055	8	82399											
ZC3H11A	9877	broad.mit.edu	37	chr1	203816649	203816649	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaatcagaggagcctgcAggtaaaacaaagtctatgca	16	6	11	8	0	2	1	1	0	1	1	2	3	2	3	1	3	4	3	1	3	5	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:203816649A>T	ENST00000545588.1	+	12	5207	c.1380A>T	c.(1378-1380)gcA>gcT	p.A460A	ZC3H11A_ENST00000332127.4_Silent_p.A460A|ZC3H11A_ENST00000367210.1_Silent_p.A460A|ZC3H11A_ENST00000367214.1_Silent_p.A460A|ZC3H11A_ENST00000367212.3_Silent_p.A460A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	460							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGCCTGCAGGTAAAACAA	0.453													18	113					0	0	0	0	T	203816649	A	T	203816649	2	4	413	1	0	0	0	0	0	0	0	1	17655	175	7	5		5	ZC3H11A	1	203816649	Silent	SNP	A	TCGA-H7-A76A-01A-51D-A34J-08	20608083	203816649	45433972	9	82400											
OR2C3	81472	broad.mit.edu	37	chr1	247695055	247695055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatgaagatgatgctcccGtaaaacagagacaccacagc	16	6	8	11	1	0	4	0	2	0	2	1	5	1	4	2	0	4	2	2	0	4	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:247695055G>A	ENST00000366487.3	-	2	1120	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGCTCCCGTAAAACAGAG	0.547													11	119					0	0	0	0	A	247695055	G	A	247695055	2	1	413	1	0	0	0	0	0	0	0	1	11064	1140	40	1		1	OR2C3	1	247695055	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	43878406	247695055	1555566	10	82401											
OR2M5	127059	broad.mit.edu	37	chr1	248308903	248308903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccttctcctggatcctgGgctctatggatgcaatcatt	6	14	9	12	0	3	0	1	0	2	0	5	2	4	2	3	3	2	2	3	3	2	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:248308903G>A	ENST00000366476.1	+	1	454	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTGGATCCTGGGCTCTATGGA	0.468													50	479					0	0	0	0	A	248308903	G	A	248308903	3	1	413	1	0	0	0	0	1	0	0	0	11084	1232	43	4	456	4	OR2M5	1	248308903	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	613848	248308903	941718	11	82402											
ALMS1	7840	broad.mit.edu	37	chr2	73680429	73680429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaatagtgctaaaactCttaaggaaattcggacactt	17	10	7	7	1	1	1	0	0	1	1	2	3	1	3	0	2	2	1	0	2	7	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:73680429C>G	ENST00000264448.6	+	8	6883	c.6772C>G	c.(6772-6774)Ctt>Gtt	p.L2258V	ALMS1_ENST00000409009.1_Missense_Mutation_p.L2216V|ALMS1_ENST00000377715.1_Missense_Mutation_p.L2258V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2258					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				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						TGCTAAAACTCTTAAGGAAAT	0.398													14	81					0	0	0	0	G	73680429	C	G	73680429	3	3	413	1	0	0	0	0	1	0	0	0	535	913	32	2	6802	2	ALMS1	2	73680429	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08		73680429	169518944	12	82403											
TGOLN2	10618	broad.mit.edu	37	chr2	85554339	85554339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacatcttttgtggtctgCgcctccgaacctgacttgct	5	13	11	12	2	2	1	0	1	2	0	3	3	3	2	3	2	3	1	3	2	1	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:85554339C>T	ENST00000377386.3	-	2	978	c.516G>A	c.(514-516)gcG>gcA	p.A172A	TGOLN2_ENST00000444342.2_Silent_p.A172A|TGOLN2_ENST00000409015.1_Silent_p.A172A|TGOLN2_ENST00000398263.2_Silent_p.A172A|TGOLN2_ENST00000282120.2_Silent_p.A74A|TGOLN2_ENST00000409232.3_Silent_p.A172A			O43493	TGON2_HUMAN	trans-golgi network protein 2	172	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGTGGTCTGCGCCTCCGAAC	0.602													7	861					0	0	0	0	T	85554339	C	T	85554339	2	4	413	1	0	0	0	0	0	0	0	1	15930	755	27	1		1	TGOLN2	2	85554339	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	11873910	85554339	157645034	13	82404											
SNRNP200	23020	broad.mit.edu	37	chr2	96956103	96956103	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctagcacgatttctgcattGagcatgtcaggaagctttga	10	12	10	9	1	2	2	1	2	1	0	2	4	2	3	1	1	4	4	1	1	2	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:96956103G>C	ENST00000323853.5	-	20	2780	c.2703C>G	c.(2701-2703)ctC>ctG	p.L901L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	901	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTTCTGCATTGAGCATGTCAG	0.488													28	227					0	0	0	0	C	96956103	G	C	96956103	2	2	413	1	0	0	0	0	0	0	0	1	14940	1277	45	2		2	SNRNP200	2	96956103	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	11401764	96956103	146243270	14	82405											
ACOXL	55289	broad.mit.edu	37	chr2	111666438	111666438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacacagaccctgcggctGatgccccacctggccacagc	10	4	9	18	1	0	2	0	1	0	1	0	2	0	2	5	2	4	1	5	2	1	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:111666438G>A	ENST00000389811.4	+	11	1085	c.861G>A	c.(859-861)ctG>ctA	p.L287L	ACOXL_ENST00000439055.1_Silent_p.L287L			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	287					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCCTGCGGCTGATGCCCCACC	0.547													12	120					0	0	0	0	A	111666438	G	A	111666438	2	1	413	1	0	0	0	0	0	0	0	1	161	1277	45	2		2	ACOXL	2	111666438	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	14710335	111666438	131532935	15	82406											
GPR148	344561	broad.mit.edu	37	chr2	131487607	131487607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccaccacattgactctGggactcacacatggctcctg	9	9	9	14	0	2	1	1	1	1	0	3	2	3	2	3	3	1	2	3	3	1	2	rs76455422		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:131487607G>A	ENST00000309926.4	+	1	965	c.883G>A	c.(883-885)Ggg>Agg	p.G295R		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	295						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATTGACTCTGGGACTCACAC	0.562													10	89					0	0	0	0	A	131487607	G	A	131487607	3	1	413	1	0	0	0	0	1	0	0	0	6702	1348	47	4	885	4	GPR148	2	131487607	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	19821169	131487607	111711766	16	82407											
CCR3	1232	broad.mit.edu	37	chr3	46307214	46307214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcagtgctctttacccaGaggatacagtatatagctgg	10	13	10	8	0	1	1	0	0	1	1	1	2	1	2	1	2	5	4	1	2	5	7			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:46307214G>C	ENST00000357422.2	+	4	1108	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	CCR3_ENST00000395940.2_Missense_Mutation_p.E189Q|CCR3_ENST00000541018.1_Missense_Mutation_p.E189Q|CCR3_ENST00000395942.2_Missense_Mutation_p.E189Q|CCR3_ENST00000545097.1_Missense_Mutation_p.E210Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	189					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCTTTACCCAGAGGATACAGT	0.478													15	98					0	0	0	0	C	46307214	G	C	46307214	3	2	413	1	0	0	0	0	1	0	0	0	2971	943	33	2	634	2	CCR3	3	46307214	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		46307214	151715216	17	82408											
CDC25A	993	broad.mit.edu	37	chr3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-																															ggtattcattacccaggcgaTctctctctctcacataccgg																										TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)tfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515													7	125	---	---	---	---					-	48200923	TC	-	48200922	7	5	413	1	0	1	0	1	0	0	0	0	3091	1435	50	0	236	0	CDC25A	3	48200922	Frame_Shift_Del	DEL	TC	TCGA-H7-A76A-01A-51D-A34J-08	1893708	48200922	149821508	18	82409											
C3orf18	51161	broad.mit.edu	37	chr3	50602922	50602922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccaggcctatcaccGtgatgatcccaaaggacaga	13	5	9	14	1	1	3	1	2	0	1	2	4	2	4	5	2	1	0	5	2	2	1	rs113250784		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:50602922G>A	ENST00000357203.3	-	3	748	c.209C>T	c.(208-210)aCg>aTg	p.T70M	C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000426034.1_Missense_Mutation_p.T70M|C3orf18_ENST00000441239.1_Intron|C3orf18_ENST00000449241.1_Missense_Mutation_p.T70M	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	70						integral to membrane		p.T70M(1)		lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GCCTATCACCGTGATGATCCC	0.532													9	28					0	0	0	0	A	50602922	G	A	50602922	3	1	413	1	0	0	0	0	1	0	0	0	2231	1145	40	1	295	1	C3orf18	3	50602922	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	2402000	50602922	147419508	19	82410											
PARP14	54625	broad.mit.edu	37	chr3	122399744	122399744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgaggatggctgtgcccgGctccttcccgctgctggtcg	2	10	15	14	3	0	1	0	1	0	0	3	2	2	2	3	4	2	5	3	4	0	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:122399744G>A	ENST00000474629.2	+	1	280	c.14G>A	c.(13-15)gGc>gAc	p.G5D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCTGTGCCCGGCTCCTTCCCG	0.632													3	10					0	0	0	0	A	122399744	G	A	122399744	3	1	413	1	0	0	0	0	1	0	0	0	11529	1203	42	4	16	4	PARP14	3	122399744	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	71796822	122399744	75622686	20	82411											
GOLIM4	27333	broad.mit.edu	37	chr3	167750483	167750483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgctcctcttccaccTgatgctcctcaggttctctg	3	16	7	15	0	4	1	1	1	3	0	8	1	7	1	4	1	2	3	4	1	0	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:167750483T>C	ENST00000470487.1	-	9	1690	c.1001A>G	c.(1000-1002)cAg>cGg	p.Q334R	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q306R	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	334	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTCCACCTGATGCTCCTC	0.537													4	128					0	0	0	0	C	167750483	T	C	167750483	3	2	413	1	0	0	0	0	1	0	0	0	6614	1580	55	5	1121	5	GOLIM4	3	167750483	Missense_Mutation	SNP	T	TCGA-H7-A76A-01A-51D-A34J-08	45350739	167750483	30271947	21	82412											
FGF12	2257	broad.mit.edu	37	chr3	192125823	192125823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctactgacctggtctccGcctcaccggcctcttgcggc	3	11	9	18	3	4	1	1	1	3	0	5	1	4	1	5	3	2	0	5	3	1	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:192125823G>A	ENST00000454309.2	-	1	1015	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	64					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CCTGGTCTCCGCCTCACCGGC	0.667													34	247					0	0	0	0	A	192125823	G	A	192125823	3	1	413	1	0	0	0	0	1	0	0	0	5886	1086	38	1	561	1	FGF12	3	192125823	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	24375340	192125823	5896607	22	82413											
NCBP2	22916	broad.mit.edu	37	chr3	196669324	196669324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggtcccggtactggctCagctccacgtaggagtcgct	5	10	13	13	3	1	0	1	0	0	0	4	1	3	1	2	4	3	6	2	4	2	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:196669324C>T	ENST00000321256.5	-	1	144	c.51G>A	c.(49-51)ctG>ctA	p.L17L	NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Silent_p.L17L	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	17					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		GGTACTGGCTCAGCTCCACGT	0.652											OREG0016012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					0	0	0	0	T	196669324	C	T	196669324	2	4	413	1	0	0	0	0	0	0	0	1	10282	813	29	2		2	NCBP2	3	196669324	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	4543501	196669324	1353106	23	82414											
USO1	8615	broad.mit.edu	37	chr4	76725349	76725349	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaatgtcaaaatgaacagctCcagacggcagtcacacagca	17	5	8	11	1	2	2	2	1	0	1	3	2	3	2	1	1	3	3	1	1	4	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr4:76725349C>G	ENST00000538159.1	+	19	2076	c.2076C>G	c.(2074-2076)ctC>ctG	p.L692L	USO1_ENST00000514213.2_Silent_p.L668L			O60763	USO1_HUMAN	USO1 vesicle transport factor	683					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGAACAGCTCCAGACGGCAG	0.383													10	27					0	0	0	0	G	76725349	C	G	76725349	2	3	413	1	0	0	0	0	0	0	0	1	17135	842	30	2		2	USO1	4	76725349	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08		76725349	114428927	24	82415											
UNC5C	8633	broad.mit.edu	37	chr4	96166282	96166282	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccactccgtccaggtggaCcagccaccgttgactgaaag	10	6	11	14	2	0	2	0	2	0	0	2	4	2	3	6	2	1	1	6	2	1	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr4:96166282C>T	ENST00000453304.1	-	6	1137	c.789G>A	c.(787-789)tgG>tgA	p.W263*	UNC5C_ENST00000506749.1_Nonsense_Mutation_p.W263*	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	263	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCAGGTGGACCAGCCACCGT	0.493													7	42					0	0	0	0	T	96166282	C	T	96166282	4	4	413	1	0	0	0	0	0	1	0	0	17089	508	18	4	2050	4	UNC5C	4	96166282	Nonsense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	19440933	96166282	94987994	25	82416											
PRDM5	11107	broad.mit.edu	37	chr4	121616407	121616407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcgaatcagcattttcttCaggctaaaagccaaatcaca	14	11	6	10	1	4	0	3	0	1	0	5	1	4	0	1	1	2	2	1	1	4	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr4:121616407C>T	ENST00000264808.3	-	16	1992	c.1752G>A	c.(1750-1752)ctG>ctA	p.L584L	PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.L553L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	584					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCATTTTCTTCAGGCTAAAAG	0.358													12	80					0	0	0	0	T	121616407	C	T	121616407	2	4	413	1	0	0	0	0	0	0	0	1	12540	813	29	2		2	PRDM5	4	121616407	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	25450125	121616407	69537869	26	82417											
C5orf38	153571	broad.mit.edu	37	chr5	2755183	2755183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacgtggacacgcaagtttCagcgagcggggatttcctgc	8	9	13	11	4	1	0	1	0	0	0	2	3	2	2	1	3	4	2	1	3	2	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr5:2755183C>T	ENST00000397835.4	+	3	374	c.374C>T	c.(373-375)tCa>tTa	p.S125L	C5orf38_ENST00000334000.3_3'UTR|C5orf38_ENST00000457752.2_3'UTR|C5orf38_ENST00000505778.1_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	0						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		ACGCAAGTTTCAGCGAGCGGG	0.582													16	208					0	0	0	0	T	2755183	C	T	2755183	3	4	413	1	0	0	0	0	1	0	0	0	2317	841	29	2		2	C5orf38	5	2755183	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08		2755183	178160077	27	82418											
CDH18	1016	broad.mit.edu	37	chr5	19591191	19591191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaagaaaggattccttctCtggtctctttgtcagtggag	9	15	10	7	0	3	1	1	0	2	1	6	3	4	3	1	3	0	0	1	3	3	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr5:19591191C>T	ENST00000507958.1	-	9	1964	c.974G>A	c.(973-975)aGa>aAa	p.R325K	CDH18_ENST00000506372.1_Missense_Mutation_p.R325K|CDH18_ENST00000274170.4_Missense_Mutation_p.R325K|CDH18_ENST00000502796.1_Missense_Mutation_p.R325K|CDH18_ENST00000511273.1_Missense_Mutation_p.R325K|CDH18_ENST00000382275.1_Missense_Mutation_p.R325K			Q13634	CAD18_HUMAN	cadherin 18, type 2	325	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATTCCTTCTCTGGTCTCTTT	0.403													19	123					0	0	0	0	T	19591191	C	T	19591191	3	4	413	1	0	0	0	0	1	0	0	0	3132	913	32	2	1426	2	CDH18	5	19591191	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	16836008	19591191	161324069	28	82419											
UGT3A1	133688	broad.mit.edu	37	chr5	35991318	35991318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagaaggaaggccactaGaagcagcacccgctgcccaa	16	2	11	12	1	0	3	0	0	0	3	0	4	0	4	3	2	3	3	3	2	6	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr5:35991318G>A	ENST00000274278.3	-	1	382	c.25C>T	c.(25-27)Cta>Tta	p.L9L	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.L9L|UGT3A1_ENST00000503189.1_Silent_p.L9L|UGT3A1_ENST00000333811.4_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	9						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGCCACTAGAAGCAGCACC	0.602													21	151					0	0	0	0	A	35991318	G	A	35991318	2	1	413	1	0	0	0	0	0	0	0	1	17059	933	33	2		2	UGT3A1	5	35991318	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	16400127	35991318	144923942	29	82420											
CLK4	57396	broad.mit.edu	37	chr5	178044413	178044413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catcatcctctatactcctgGatcttttccttcggtggctc	5	16	6	14	1	3	0	1	0	2	0	8	1	6	1	3	3	1	1	3	3	2	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr5:178044413G>C	ENST00000316308.4	-	4	575	c.407C>G	c.(406-408)tCc>tGc	p.S136C	CLK4_ENST00000522749.1_Intron	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	136						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		TATACTCCTGGATCTTTTCCT	0.433													10	64					0	0	0	0	C	178044413	G	C	178044413	3	2	413	1	0	0	0	0	1	0	0	0	3569	1174	41	2	1078	2	CLK4	5	178044413	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	142053095	178044413	2870847	30	82421											
SYNE1	23345	broad.mit.edu	37	chr6	152655237	152655237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgttctctgaagatcctCttccctttgcaagcacaggt	7	15	7	12	0	3	2	0	1	3	1	6	2	5	2	2	1	2	3	2	1	2	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr6:152655237C>T	ENST00000367255.5	-	77	13301	c.12700G>A	c.(12700-12702)Gag>Aag	p.E4234K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E4099K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4163K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4234K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4163K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4234					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGATCCTCTTCCCTTTGC	0.398										HNSCC(10;0.0054)			5	204					0	0	0	0	T	152655237	C	T	152655237	3	4	413	1	0	0	0	0	1	0	0	0	15536	922	32	2	14046	2	SYNE1	6	152655237	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08		152655237	18459830	31	82422											
OCM2	4951	broad.mit.edu	37	chr7	97617777	97617777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgttgtctatgaaccGgaaaacatccttcacctgac	10	11	8	12	2	2	2	1	2	1	0	4	3	3	3	3	2	2	1	3	2	4	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr7:97617777G>A	ENST00000257627.4	-	2	236	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1.						calcium ion binding			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507													20	129					0	0	0	0	A	97617777	G	A	97617777	3	1	413	1	0	0	0	0	1	0	0	0	10893	1115	39	1	196	1	OCM2	7	97617777	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		97617777	61520886	32	82423											
ZAN	7455	broad.mit.edu	37	chr7	100365499	100365499	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggcttgcacaaggcCgggtgaccataaggctcagc	8	8	14	11	1	1	1	1	1	0	0	1	1	1	1	2	4	2	3	2	4	2	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr7:100365499C>T	ENST00000542585.1	+	0	5054				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.R1636W(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACAAGGCCGGGTGACCAT	0.577													6	32					0	0	0	0	T	100365499	C	T	100365499	1	4	413	0	1	0	0	0	0	0	0	0	17609	643	23	1		1	ZAN	7	100365499	RNA	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	2747722	100365499	58773164	33	82424											
KIAA1549	57670	broad.mit.edu	37	chr7	138529060	138529060	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctaaacagccacatatAcctgtggtacccccgacagg	13	6	9	13	1	0	0	0	0	0	0	0	2	0	0	4	2	5	2	4	2	6	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr7:138529060A>G	ENST00000440172.1	-	18	5501		c.e18+1		KIAA1549_ENST00000422774.1_Splice_Site|KIAA1549_ENST00000242365.4_Splice_Site	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549							integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGCCACATATACCTGTGGTAC	0.557			O	BRAF	pilocytic astrocytoma								6	33					0	0	0	0	G	138529060	A	G	138529060	5	3	413	1	0	0	0	0	0	0	1	0	8295	405	14	5	410	5	KIAA1549	7	138529060	Splice_Site	SNP	A	TCGA-H7-A76A-01A-51D-A34J-08	38163561	138529060	20609603	34	82425											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730676	37730676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcctggctgtgggttgCgcctctggagacacttccag	6	9	15	11	1	1	1	0	0	1	1	2	3	2	2	3	4	2	2	3	4	1	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:37730676C>T	ENST00000330843.4	-	4	1656	c.1644G>A	c.(1642-1644)gcG>gcA	p.A548A	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	548					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTGGGTTGCGCCTCTGGAG	0.502													13	85					0	0	0	0	T	37730676	C	T	37730676	2	4	413	1	0	0	0	0	0	0	0	1	12975	755	27	1		1	RAB11FIP1	8	37730676	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08		37730676	108633346	35	82426											
POLB	5423	broad.mit.edu	37	chr8	42229169	42229169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggaacccaaggaccggagCgaatgaggcctgtatcctcc	10	5	13	13	3	0	1	0	1	0	0	2	5	2	4	5	4	2	1	5	4	4	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:42229169C>T	ENST00000265421.4	+	14	1172	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	POLB_ENST00000538005.1_Silent_p.S180S|POLB_ENST00000521492.1_Silent_p.S53S	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	334					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AGGACCGGAGCGAATGAGGCC	0.448								DNA polymerases (catalytic subunits)					4	44					0	0	0	0	T	42229169	C	T	42229169	2	4	413	1	0	0	0	0	0	0	0	1	12261	767	27	1		1	POLB	8	42229169	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	4498493	42229169	104134853	36	82427											
NSMAF	8439	broad.mit.edu	37	chr8	59520336	59520336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggactcaccagaggcaTgaggccgtgcctccttttgt	8	9	11	13	1	1	2	1	1	0	1	2	3	2	3	5	3	1	1	5	3	1	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:59520336T>C	ENST00000038176.3	-	11	963	c.751A>G	c.(751-753)Atg>Gtg	p.M251V	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.M282V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	251					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACCAGAGGCATGAGGCCGTGC	0.458													18	121					0	0	0	0	C	59520336	T	C	59520336	3	2	413	1	0	0	0	0	1	0	0	0	10745	1464	51	5	2086	5	NSMAF	8	59520336	Missense_Mutation	SNP	T	TCGA-H7-A76A-01A-51D-A34J-08	17291167	59520336	86843686	37	82428											
ARFGEF1	10565	broad.mit.edu	37	chr8	68111170	68111170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaatattaagttcccatCattgcttgtttattccaagt	13	16	4	8	0	1	0	1	0	0	0	3	0	3	0	2	0	1	3	2	0	6	8			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:68111170C>T	ENST00000262215.3	-	39	5938	c.5549G>A	c.(5548-5550)tGa>tAa	p.*1850*	ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	0					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGTTCCCATCATTGCTTGTT	0.398													5	103					0	0	0	0	T	68111170	C	T	68111170	2	4	413	1	0	0	0	0	0	0	0	1	854	837	29	2		2	ARFGEF1	8	68111170	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	8590834	68111170	78252852	38	82429											
CYP11B1	1584	broad.mit.edu	37	chr8	143956410	143956410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctctgcctctgccaggCgccgcccaaggcactggcgc	5	6	12	18	3	2	0	0	0	2	0	3	0	2	0	4	3	2	2	4	3	1	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:143956410C>T	ENST00000292427.4	-	8	1393	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R525H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	454			R -> C (in AH4).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCTGCCAGGCGCCGCCCAAG	0.682									Familial Hyperaldosteronism type I				32	98					0	0	0	0	T	143956410	C	T	143956410	3	4	413	1	0	0	0	0	1	0	0	0	4177	768	27	1	158	1	CYP11B1	8	143956410	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	75845240	143956410	2407612	39	82430											
FBXL6	26233	broad.mit.edu	37	chr8	145579649	145579649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtgcttggtgtgaccCgggtgcccctgaggttaaga	7	10	15	9	1	0	4	0	3	0	1	0	4	0	4	3	3	2	2	3	3	1	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:145579649C>T	ENST00000331890.5	-	8	1515	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.R478Q	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	484					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGGTGTGACCCGGGTGCCCCT	0.632													15	71					0	0	0	0	T	145579649	C	T	145579649	3	4	413	1	0	0	0	0	1	0	0	0	5768	652	23	1	176	1	FBXL6	8	145579649	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	1623239	145579649	784373	40	82431											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18753367	18753367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaccagagacgtcttctGcagccacctgctttccagag	10	8	9	14	1	2	3	0	0	2	3	3	4	3	3	4	0	3	2	4	0	0	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:18753367G>A	ENST00000380548.4	+	16	2417	c.2078G>A	c.(2077-2079)tGc>tAc	p.C693Y		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	693	TSP type-1 6.					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)		GACGTCTTCTGCAGCCACCTG	0.532													7	18					0	0	0	0	A	18753367	G	A	18753367	3	1	413	1	0	0	0	0	1	0	0	0	274	1319	46	4	2144	4	ADAMTSL1	9	18753367	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		18753367	122460064	41	82432											
DMRTA1	63951	broad.mit.edu	37	chr9	22451531	22451531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacaggaacctagcaaactCagaagaactggaaaacacag	20	3	8	10	0	1	2	1	0	0	2	1	4	1	4	1	2	6	1	1	2	8	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:22451531C>T	ENST00000325870.1	+	2	1361	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	379					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CTAGCAAACTCAGAAGAACTG	0.428													14	100					0	0	0	0	T	22451531	C	T	22451531	3	4	413	1	0	0	0	0	1	0	0	0	4625	838	29	2	1142	2	DMRTA1	9	22451531	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	3698164	22451531	118761900	42	82433											
FOXB2	442425	broad.mit.edu	37	chr9	79635062	79635064	+	In_Frame_Del	DEL	GCC	GCC	-																															catcaccaccacccaccccaGccgccgccgccgccgccccc																										TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:79635062_79635064delGCC	ENST00000376708.1	+	1	492_494	c.492_494delGCC	c.(490-495)cag>ca	p.QP164del		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	164	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						accCACCCCAgccgccgccgccg	0.704													3	6	---	---	---	---					-	79635064	GCC	-	79635062	7	5	413	1	0	1	0	1	0	0	0	0	6038	962	34	0	494	0	FOXB2	9	79635062	In_Frame_Del	DEL	GCC	TCGA-H7-A76A-01A-51D-A34J-08	57183531	79635062	61578369	43	82434											
SEMA4D	10507	broad.mit.edu	37	chr9	92002396	92002396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctttcttgattaacCtgggcctgttgtctattggg	6	17	9	9	0	4	1	1	1	3	0	4	1	4	1	2	2	1	1	2	2	2	6			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:92002396C>A	ENST00000450295.1	-	12	2011	c.1235G>T	c.(1234-1236)aGg>aTg	p.R412M	SEMA4D_ENST00000455551.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R412M|SEMA4D_ENST00000438547.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R412M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000420987.1_Missense_Mutation_p.R412M|SEMA4D_ENST00000422704.2_Missense_Mutation_p.R412M			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	412	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTGATTAACCTGGGCCTGTT	0.507													4	89					0.150653	0.151909	1	0	A	92002396	C	A	92002396	3	1	413	1	0	0	0	0	1	0	0	0	14121	681	24	4	1943	4	SEMA4D	9	92002396	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	12367334	92002396	49211035	44	82435											
C5	727	broad.mit.edu	37	chr9	123725972	123725972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggagatgtccatcaccGcatgagaggatccagatgat	13	7	12	9	1	1	4	1	2	0	3	3	7	3	5	3	2	0	2	3	2	1	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:123725972G>A	ENST00000223642.1	-	34	4294	c.4265C>T	c.(4264-4266)gCg>gTg	p.A1422V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1422					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCCATCACCGCATGAGAGGA	0.358													4	148					0	0	0	0	A	123725972	G	A	123725972	3	1	413	1	0	0	0	0	1	0	0	0	2301	1087	38	1	797	1	C5	9	123725972	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	31723576	123725972	17487459	45	82436											
PTER	9317	broad.mit.edu	37	chr10	16553183	16553183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgttcctaaaatgttgctGagaggcataactgagaatgt	12	13	11	5	0	0	2	0	2	0	2	1	4	1	2	1	1	2	5	1	1	4	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:16553183G>A	ENST00000378000.1	+	6	1224	c.978G>A	c.(976-978)ctG>ctA	p.L326L	PTER_ENST00000298942.3_Silent_p.L326L|PTER_ENST00000535784.2_Silent_p.L326L|PTER_ENST00000423462.2_Silent_p.L279L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	326					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAATGTTGCTGAGAGGCATAA	0.393													19	120					0	0	0	0	A	16553183	G	A	16553183	2	1	413	1	0	0	0	0	0	0	0	1	12818	1277	45	2		2	PTER	10	16553183	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		16553183	118981564	46	82437											
BMS1	9790	broad.mit.edu	37	chr10	43318566	43318566	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatcttgctatacctgtagGgaatgtttaattctgccttg	8	18	8	7	0	2	0	0	0	2	0	2	1	2	1	2	1	3	3	2	1	6	9			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:43318566G>A	ENST00000374518.4	+	20	3196	c.3132_splice	c.e20-1	p.G1045_splice		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388													5	128					0	0	0	0	A	43318566	G	A	43318566	5	1	413	1	0	0	0	0	0	0	1	0	1477	1246	43	4	3207	4	BMS1	10	43318566	Splice_Site	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	26765383	43318566	92216181	47	82438											
PCDH15	65217	broad.mit.edu	37	chr10	55782741	55782741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacacaggactgttatcatCaatgtccaaaaccttgatgg	14	10	8	9	0	2	1	2	1	0	0	3	3	3	2	2	2	2	1	2	2	5	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:55782741C>T	ENST00000373965.2	-	20	2852	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N	PCDH15_ENST00000395433.1_Missense_Mutation_p.D791N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D813N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D813N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D818N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D776N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D424N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D820N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D742N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D813N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D813N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D813N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	813	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTTATCATCAATGTCCAAA	0.443										HNSCC(58;0.16)			22	146					0	0	0	0	T	55782741	C	T	55782741	3	4	413	1	0	0	0	0	1	0	0	0	11582	826	29	2	5109	2	PCDH15	10	55782741	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	12464175	55782741	79752006	48	82439											
CEP55	55165	broad.mit.edu	37	chr10	95276763	95276763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaaaagatcttgaggttGaacgacaaaccataactcag	19	7	7	8	1	2	3	1	2	1	1	2	4	2	3	1	1	3	1	1	1	6	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:95276763G>A	ENST00000371485.3	+	6	1055	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	251					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TCTTGAGGTTGAACGACAAAC	0.358													11	92					0	0	0	0	A	95276763	G	A	95276763	3	1	413	1	0	0	0	0	1	0	0	0	3284	1291	45	2	769	2	CEP55	10	95276763	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	39494022	95276763	40257984	49	82440											
PIK3AP1	118788	broad.mit.edu	37	chr10	98411122	98411122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagggtctctgtgttgtaggGcacaattttaaaggcctgaa	11	12	12	6	0	1	1	0	1	1	0	2	1	1	1	1	3	0	3	1	3	6	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:98411122G>C	ENST00000339364.5	-	6	990	c.871C>G	c.(871-873)Ccc>Gcc	p.P291A	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.P113A|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	291	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTGTTGTAGGGCACAATTTTA	0.453													25	86					0	0	0	0	C	98411122	G	C	98411122	3	2	413	1	0	0	0	0	1	0	0	0	11980	1203	42	4	1594	4	PIK3AP1	10	98411122	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	3134359	98411122	37123625	50	82441											
SLIT1	6585	broad.mit.edu	37	chr10	98808826	98808826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attggtgcgcaggaagtctgCcagccacttgaggttacagt	9	10	13	9	1	1	1	0	1	1	0	1	2	1	2	2	3	4	2	2	3	2	3	rs140404931	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:98808826C>T	ENST00000266058.4	-	14	1596	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	SLIT1_ENST00000371070.4_Missense_Mutation_p.A451T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	451	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGGAAGTCTGCCAGCCACTTG	0.592													4	80					0	0	0	0	T	98808826	C	T	98808826	3	4	413	1	0	0	0	0	1	0	0	0	14827	739	26	4	3349	4	SLIT1	10	98808826	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	397704	98808826	36725921	51	82442											
GOLGA7B	401647	broad.mit.edu	37	chr10	99623701	99623701	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagatcgagcggcagctCtttgaagagactgtgaagac	11	8	12	10	2	1	5	0	2	1	3	3	7	2	5	1	1	2	2	1	1	2	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:99623701C>G	ENST00000370602.1	+	3	218	c.153C>G	c.(151-153)ctC>ctG	p.L51L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	51						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						AGCGGCAGCTCTTTGAAGAGA	0.602													11	86					0	0	0	0	G	99623701	C	G	99623701	2	3	413	1	0	0	0	0	0	0	0	1	6611	900	32	2		2	GOLGA7B	10	99623701	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	814875	99623701	35911046	52	82443											
GOLGA7B	401647	broad.mit.edu	37	chr10	99623815	99623815	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggcctacttcatcttcctCtgcatggagacccactatga	9	11	7	14	1	3	2	1	1	2	1	4	3	4	2	3	2	2	1	3	2	2	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:99623815C>G	ENST00000370602.1	+	3	332	c.267C>G	c.(265-267)ctC>ctG	p.L89L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	89						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						TCATCTTCCTCTGCATGGAGA	0.617													8	84					0	0	0	0	G	99623815	C	G	99623815	2	3	413	1	0	0	0	0	0	0	0	1	6611	900	32	2		2	GOLGA7B	10	99623815	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	114	99623815	35910932	53	82444											
RNH1	6050	broad.mit.edu	37	chr11	498031	498031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacagctcccgcacgcccGcatcctccagcctgttgttg	5	8	10	18	3	0	0	0	0	0	0	3	0	3	0	5	1	2	6	5	1	0	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr11:498031G>A	ENST00000534797.1	-	7	2474	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	RNH1_ENST00000397604.3_Missense_Mutation_p.A356V|RNH1_ENST00000397614.1_Missense_Mutation_p.A356V|RNH1_ENST00000397615.2_Missense_Mutation_p.A356V|RNH1_ENST00000356187.5_Missense_Mutation_p.A356V|RNH1_ENST00000354420.2_Missense_Mutation_p.A356V|RNH1_ENST00000438658.2_Missense_Mutation_p.A356V|RNH1_ENST00000533410.1_Missense_Mutation_p.A356V			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	356					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCACGCCCGCATCCTCCAG	0.612													4	97					0	0	0	0	A	498031	G	A	498031	3	1	413	1	0	0	0	0	1	0	0	0	13589	1087	38	1	330	1	RNH1	11	498031	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		498031	134508485	54	82445											
HARBI1	283254	broad.mit.edu	37	chr11	46625092	46625092	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctacattagctaaaatgAgtgagcattagctcctgacg	12	12	8	9	1	1	3	0	3	1	0	2	3	2	3	1	0	4	3	1	0	5	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr11:46625092A>G	ENST00000326737.3	-	3	1285	c.1038T>C	c.(1036-1038)acT>acC	p.T346T		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	346						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						AGCTAAAATGAGTGAGCATTA	0.493													14	93					0	0	0	0	G	46625092	A	G	46625092	2	3	413	1	0	0	0	0	0	0	0	1	7008	291	11	5		5	HARBI1	11	46625092	Silent	SNP	A	TCGA-H7-A76A-01A-51D-A34J-08	46127061	46625092	88381424	55	82446											
TAS2R46	259292	broad.mit.edu	37	chr12	11214124	11214124	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacatgaagacaggtttgTtttccagactctcaaaactc	14	11	7	9	0	1	4	1	1	1	3	4	4	2	4	1	1	2	2	1	1	4	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:11214124T>G	ENST00000533467.1	-	1	769	c.770A>C	c.(769-771)aAc>aCc	p.N257T	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	257					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GACAGGTTTGTTTTCCAGACT	0.408													45	246					0	0	0	0	G	11214124	T	G	11214124	3	3	413	1	0	0	0	0	1	0	0	0	15673	1725	60	5	163	5	TAS2R46	12	11214124	Missense_Mutation	SNP	T	TCGA-H7-A76A-01A-51D-A34J-08		11214124	122637771	56	82447											
FKBP11	51303	broad.mit.edu	37	chr12	49318025	49318025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccacacacatgtcgagaaGactctgctccagaccttgaa	12	7	7	15	1	1	4	0	1	1	3	3	5	2	4	4	0	1	1	4	0	2	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:49318025G>C	ENST00000550765.1	-	4	696	c.298C>G	c.(298-300)Ctt>Gtt	p.L100V	AC073610.5_ENST00000537495.1_Intron|FKBP11_ENST00000552878.1_Missense_Mutation_p.L100V|ARF3_ENST00000398092.4_Intron|FKBP11_ENST00000453172.2_Missense_Mutation_p.L100V|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_5'UTR	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	100	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						ATGTCGAGAAGACTCTGCTCC	0.527													5	28					0	0	0	0	C	49318025	G	C	49318025	3	2	413	1	0	0	0	0	1	0	0	0	5948	942	33	2	376	2	FKBP11	12	49318025	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	38103901	49318025	84533870	57	82448											
ITGA5	3678	broad.mit.edu	37	chr12	54812814	54812814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagaatccgaagaaggagcCcgggggccccgagagtactg	11	4	16	10	3	0	3	0	1	0	3	1	7	1	4	4	3	2	1	4	3	4	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:54812814C>G	ENST00000293379.4	-	1	430	c.169G>C	c.(169-171)Ggc>Cgc	p.G57R	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)	57					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			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						AAGAAGGAGCCCGGGGGCCCC	0.687													7	46					0	0	0	0	G	54812814	C	G	54812814	3	3	413	1	0	0	0	0	1	0	0	0	7932	623	22	4	3100	4	ITGA5	12	54812814	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	5494789	54812814	79039081	58	82449											
RBMS2	5939	broad.mit.edu	37	chr12	56963764	56963764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcggtgtacaggcacAgatggcaaaggtaagggtac	12	5	16	8	1	0	1	0	0	0	1	0	1	0	1	1	6	3	5	1	6	4	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:56963764A>T	ENST00000262031.5	+	4	469	c.374A>T	c.(373-375)cAg>cTg	p.Q125L	RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.Q125L|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	125	RRM 1.				RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GTACAGGCACAGATGGCAAAG	0.502													4	106					0	0	0	0	T	56963764	A	T	56963764	3	4	413	1	0	0	0	0	1	0	0	0	13231	188	7	5	388	5	RBMS2	12	56963764	Missense_Mutation	SNP	A	TCGA-H7-A76A-01A-51D-A34J-08	2150950	56963764	76888131	59	82450											
ANO4	121601	broad.mit.edu	37	chr12	101493408	101493408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgacaagaacatggacctGaaaggaaaataagtttccca	18	7	8	8	1	0	2	0	1	0	1	1	5	1	4	2	2	2	1	2	2	7	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:101493408G>A	ENST00000392979.3	+	21	2315	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ANO4_ENST00000392977.3_Missense_Mutation_p.E687K|ANO4_ENST00000550015.1_Missense_Mutation_p.E207K|ANO4_ENST00000299222.9_Missense_Mutation_p.E207K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	687						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACATGGACCTGAAAGGAAAAT	0.358										HNSCC(74;0.22)			10	93					0	0	0	0	A	101493408	G	A	101493408	3	1	413	1	0	0	0	0	1	0	0	0	698	1291	45	2	2032	2	ANO4	12	101493408	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	44529644	101493408	32358487	60	82451											
KDM2B	84678	broad.mit.edu	37	chr12	121947596	121947596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactttcctccgactcattaGacaaagtccttttgaggaat	11	13	6	11	1	1	2	1	1	0	1	4	4	4	3	3	1	0	0	3	1	3	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:121947596G>A	ENST00000377069.4	-	11	1734	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	KDM2B_ENST00000377071.4_Missense_Mutation_p.S474F|KDM2B_ENST00000538046.2_Missense_Mutation_p.S384F|KDM2B_ENST00000536437.1_Missense_Mutation_p.S357F	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	474					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGACTCATTAGACAAAGTCCT	0.597													11	97					0	0	0	0	A	121947596	G	A	121947596	3	1	413	1	0	0	0	0	1	0	0	0	8178	942	33	2	2693	2	KDM2B	12	121947596	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	20454188	121947596	11904299	61	82452											
ORAI1	84876	broad.mit.edu	37	chr12	122079387	122079387	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatggtgcccttcggcctGatctttatcgtcttcgccgt	4	15	9	13	4	3	1	1	1	2	0	6	1	3	1	3	2	1	0	3	2	1	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:122079387G>C	ENST00000330079.7	+	2	943	c.750G>C	c.(748-750)ctG>ctC	p.L250L		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	248					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		CCTTCGGCCTGATCTTTATCG	0.632													22	79					0	0	0	0	C	122079387	G	C	122079387	2	2	413	1	0	0	0	0	0	0	0	1	11328	1277	45	2		2	ORAI1	12	122079387	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	131791	122079387	11772508	62	82453											
DHX37	57647	broad.mit.edu	37	chr12	125455922	125455922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgctcctctcgtgggcctCgtcgatgatcaccaccttgt	5	11	9	16	4	2	1	1	1	1	0	6	2	3	1	4	1	0	1	4	1	0	1	rs139345740		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:125455922C>T	ENST00000308736.2	-	8	1215	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	DHX37_ENST00000544745.1_Missense_Mutation_p.E160K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	373	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCGTGGGCCTCGTCGATGATC	0.657													4	34					0	0	0	0	T	125455922	C	T	125455922	3	4	413	1	0	0	0	0	1	0	0	0	4547	893	31	1	2436	1	DHX37	12	125455922	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	3376535	125455922	8395973	63	82454											
ATP8A2	51761	broad.mit.edu	37	chr13	26434338	26434338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtttttcagatactGtgttgacaagtggtcatgct	7	19	9	6	0	3	2	2	1	1	1	3	2	3	2	0	1	2	3	0	1	2	6			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr13:26434338G>C	ENST00000381655.2	+	31	3104	c.2962G>C	c.(2962-2964)Gtg>Ctg	p.V988L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.V923L|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	948					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTCAGATACTGTGTTGACAAG	0.343													11	90					0	0	0	0	C	26434338	G	C	26434338	3	2	413	1	0	0	0	0	1	0	0	0	1197	1377	48	4	3084	4	ATP8A2	13	26434338	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		26434338	88735540	64	82455											
TRIM13	10206	broad.mit.edu	37	chr13	50586100	50586100	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctgcttgaagaagatctCacatgccctatttgttgtag	10	13	10	8	0	1	3	1	1	1	2	2	4	1	3	1	0	3	4	1	0	4	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr13:50586100C>G	ENST00000378182.3	+	2	762	c.24C>G	c.(22-24)ctC>ctG	p.L8L	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Silent_p.L8L|TRIM13_ENST00000356017.4_Silent_p.L11L|TRIM13_ENST00000457662.2_Silent_p.L8L|TRIM13_ENST00000298772.5_Silent_p.L11L	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	8					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AAGAAGATCTCACATGCCCTA	0.383													30	159					0	0	0	0	G	50586100	C	G	50586100	2	3	413	1	0	0	0	0	0	0	0	1	16583	813	29	2		2	TRIM13	13	50586100	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	24151762	50586100	64583778	65	82456											
TRIM13	10206	broad.mit.edu	37	chr13	50586862	50586862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagagaaaatcaaagtaatCaaggaaactcctttacctcc	18	8	6	9	0	2	2	2	0	0	2	4	4	4	3	3	1	2	1	3	1	7	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr13:50586862C>G	ENST00000378182.3	+	2	1524	c.786C>G	c.(784-786)atC>atG	p.I262M	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.I262M|TRIM13_ENST00000356017.4_Missense_Mutation_p.I265M|TRIM13_ENST00000457662.2_Missense_Mutation_p.I262M|TRIM13_ENST00000298772.5_Missense_Mutation_p.I265M	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	262					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TCAAAGTAATCAAGGAAACTC	0.403													24	90					0	0	0	0	G	50586862	C	G	50586862	3	3	413	1	0	0	0	0	1	0	0	0	16583	816	29	2	801	2	TRIM13	13	50586862	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	762	50586862	64583016	66	82457											
PCDH9	5101	broad.mit.edu	37	chr13	66879131	66879131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgcacatctctgtagcttCagctaatcctcggggaccca	9	10	9	13	1	2	0	1	0	1	0	5	1	3	1	2	2	3	4	2	2	2	3			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr13:66879131C>T	ENST00000544246.1	-	5	4061	c.3370G>A	c.(3370-3372)Gaa>Aaa	p.E1124K	PCDH9_ENST00000456367.1_Missense_Mutation_p.E1090K|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.E1090K|PCDH9_ENST00000377865.2_Missense_Mutation_p.E1124K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1124					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTGTAGCTTCAGCTAATCCT	0.438													10	66					0	0	0	0	T	66879131	C	T	66879131	3	4	413	1	0	0	0	0	1	0	0	0	11589	835	29	2	347	2	PCDH9	13	66879131	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	16292269	66879131	48290747	67	82458											
B2M	567	broad.mit.edu	37	chr15	45007773	45007773	+	Frame_Shift_Del	DEL	T	T	-																															aaaaagtggagcattcagacTtgtctttcagcaaggactgg																										TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr15:45007773delT	ENST00000558401.1	+	2	290	c.220delT	c.(220-222)tgfs	p.L74fs	B2M_ENST00000544417.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	74	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.K61_L74del(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCATTCAGACTTGTCTTTCAG	0.413													19	132	---	---	---	---					-	45007773	T	-	45007773	7	5	413	1	0	1	0	1	0	0	0	0	1248	1606	56	0	226	0	B2M	15	45007773	Frame_Shift_Del	DEL	T	TCGA-H7-A76A-01A-51D-A34J-08		45007773	57523619	68	82459											
HERC1	8925	broad.mit.edu	37	chr15	63928252	63928252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttaccatagtcaccatCtccccagctaaagacctcac	13	9	4	15	0	3	1	2	0	1	1	4	1	3	1	5	0	2	2	5	0	5	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr15:63928252C>A	ENST00000443617.2	-	65	12409	c.12322G>T	c.(12322-12324)Gat>Tat	p.D4108Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4108					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAGTCACCATCTCCCCAGCTA	0.557													44	237					1.57945e-13	1.7374e-13	1	0	A	63928252	C	A	63928252	3	1	413	1	0	0	0	0	1	0	0	0	7107	913	32	2	2319	2	HERC1	15	63928252	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	18920479	63928252	38603140	69	82460											
RHBDF1	64285	broad.mit.edu	37	chr16	112635	112635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcctttagcgctgcctccGatggggactcgaaaacttca	9	10	10	12	3	1	0	1	0	0	0	4	3	3	1	3	2	3	1	3	2	3	3	rs143220179		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr16:112635G>A	ENST00000262316.6	-	7	996	c.854C>T	c.(853-855)tCg>tTg	p.S285L	RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	285					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CGCTGCCTCCGATGGGGACTC	0.617													31	284					0	0	0	0	A	112635	G	A	112635	3	1	413	1	0	0	0	0	1	0	0	0	13402	1059	37	1	1761	1	RHBDF1	16	112635	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		112635	90242118	70	82461											
PKD1	5310	broad.mit.edu	37	chr16	2159887	2159887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtaaatggctcggaggtctCccagctcagcccctcctcca	7	8	10	16	1	2	0	1	0	1	0	6	1	4	1	5	4	2	3	5	4	2	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr16:2159887C>T	ENST00000262304.4	-	15	5489	c.5281G>A	c.(5281-5283)Gag>Aag	p.E1761K	PKD1_ENST00000423118.1_Missense_Mutation_p.E1761K	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1761	PKD 13.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCGGAGGTCTCCCAGCTCAGC	0.632													7	40					0	0	0	0	T	2159887	C	T	2159887	3	4	413	1	0	0	0	0	1	0	0	0	12035	864	30	2	7758	2	PKD1	16	2159887	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	2047252	2159887	88194866	71	82462											
SRRM2	23524	broad.mit.edu	37	chr16	2817994	2817994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaccacgtcctctgctggtGatcacaatggcatgctctct	7	11	9	14	2	3	1	1	1	2	0	5	2	4	1	2	2	2	3	2	2	1	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr16:2817994G>A	ENST00000301740.8	+	11	8014	c.7465G>A	c.(7465-7467)Gat>Aat	p.D2489N	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2489	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCTGCTGGTGATCACAATGG	0.607													9	76					0	0	0	0	A	2817994	G	A	2817994	3	1	413	1	0	0	0	0	1	0	0	0	15259	1290	45	2	7503	2	SRRM2	16	2817994	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	658107	2817994	87536759	72	82463											
NOB1	28987	broad.mit.edu	37	chr16	69783174	69783174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtttctccagaacatgaagGaactaaattccaggttctca	13	11	8	9	0	2	2	1	1	2	1	5	3	3	3	2	3	2	2	2	3	5	4			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr16:69783174G>C	ENST00000268802.5	-	5	496	c.467C>G	c.(466-468)tCc>tGc	p.S156C		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	156						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAACATGAAGGAACTAAATTC	0.438													16	116					0	0	0	0	C	69783174	G	C	69783174	3	2	413	1	0	0	0	0	1	0	0	0	10581	1174	41	2	791	2	NOB1	16	69783174	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	66965180	69783174	20571579	73	82464											
ASPA	443	broad.mit.edu	37	chr17	3386832	3386832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctacgtttatctgattGagcatccttccctcaaatat	9	15	5	12	1	2	2	1	2	1	0	4	2	4	2	3	0	3	3	3	0	4	6			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:3386832G>C	ENST00000263080.2	+	3	630	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E158Q	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	158					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTATCTGATTGAGCATCCTTC	0.403													11	93					0	0	0	0	C	3386832	G	C	3386832	3	2	413	1	0	0	0	0	1	0	0	0	1054	1291	45	2	482	2	ASPA	17	3386832	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		3386832	77808378	74	82465											
NLRP1	22861	broad.mit.edu	37	chr17	5445209	5445209	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttgcagctcggctgtctCagtctctggcaaaggtgttt	6	13	12	10	1	2	0	1	0	2	0	5	0	2	0	0	3	3	6	0	3	1	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:5445209C>G	ENST00000345221.3	-	6	3221	c.2667G>C	c.(2665-2667)ctG>ctC	p.L889L	NLRP1_ENST00000572272.1_Silent_p.L889L|NLRP1_ENST00000269280.4_Silent_p.L889L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.L889L|NLRP1_ENST00000354411.3_Silent_p.L889L|NLRP1_ENST00000577119.1_Silent_p.L889L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	889					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCGGCTGTCTCAGTCTCTGGC	0.587													5	59					0	0	0	0	G	5445209	C	G	5445209	2	3	413	1	0	0	0	0	0	0	0	1	10541	813	29	2		2	NLRP1	17	5445209	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	2058377	5445209	75750001	75	82466											
FNDC8	54752	broad.mit.edu	37	chr17	33454292	33454292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgcccatcgaagtcccaGatggccacaaggggcctgct	9	6	11	15	1	0	1	0	0	0	1	2	2	1	1	5	3	2	1	5	3	2	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:33454292G>A	ENST00000158009.5	+	2	556	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	147										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CGAAGTCCCAGATGGCCACAA	0.582													30	195					0	0	0	0	A	33454292	G	A	33454292	2	1	413	1	0	0	0	0	0	0	0	1	6019	933	33	2		2	FNDC8	17	33454292	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	28009083	33454292	47740918	76	82467											
NPEPPS	9520	broad.mit.edu	37	chr17	45689949	45689949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaaggaaaacagattctctCcgctgatctgaggagtcctg	11	9	12	9	1	2	3	0	2	2	1	5	6	4	6	2	3	1	1	2	3	3	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:45689949C>G	ENST00000322157.4	+	18	2456	c.2219C>G	c.(2218-2220)tCc>tGc	p.S740C	RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.S660C|NPEPPS_ENST00000530173.1_Missense_Mutation_p.S736C|RP11-580I16.2_ENST00000582389.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	740					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CAGATTCTCTCCGCTGATCTG	0.408													17	97					0	0	0	0	G	45689949	C	G	45689949	3	3	413	1	0	0	0	0	1	0	0	0	10645	855	30	2	2289	2	NPEPPS	17	45689949	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	12235657	45689949	35505261	77	82468											
SMCHD1	23347	broad.mit.edu	37	chr18	2775763	2775763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcacaaattgaagatgataGagctgcgatggttatttctt	13	13	10	5	1	1	4	0	2	1	2	1	5	1	4	0	1	3	3	0	1	4	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr18:2775763G>C	ENST00000320876.6	+	42	5545	c.5207G>C	c.(5206-5208)aGa>aCa	p.R1736T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1736T|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1736					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAAGATGATAGAGCTGCGATG	0.353													28	81					0	0	0	0	C	2775763	G	C	2775763	3	2	413	1	0	0	0	0	1	0	0	0	14876	942	33	2	5373	2	SMCHD1	18	2775763	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		2775763	75301485	78	82469											
MC2R	4158	broad.mit.edu	37	chr18	13885017	13885017	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcacatgatgggagaaGatcaccatggtgatgccagt	11	8	15	7	0	1	4	1	2	0	2	1	5	1	4	2	3	1	1	2	3	1	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr18:13885017G>T	ENST00000327606.3	-	2	681	c.501C>A	c.(499-501)atC>atA	p.I167I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	167					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GATGGGAGAAGATCACCATGG	0.577													10	85					1.58986e-06	1.68749e-06	1	0	T	13885017	G	T	13885017	2	4	413	1	0	0	0	0	0	0	0	1	9433	932	33	2		2	MC2R	18	13885017	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	11109254	13885017	64192231	79	82470											
MEX3D	399664	broad.mit.edu	37	chr19	1556694	1556694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcacgcgcacctggatgGtggtctgtccgggaaggttg	6	8	18	9	3	1	0	0	0	1	0	2	2	2	2	2	6	0	3	2	6	1	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:1556694G>T	ENST00000402693.4	-	2	823	c.824C>A	c.(823-825)aCc>aAc	p.T275N	MEX3D_ENST00000388824.6_Missense_Mutation_p.T275N	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	275	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGGATGGTGGTCTGTCC	0.716													6	62					3.59834e-05	3.72136e-05	1	0	T	1556694	G	T	1556694	3	4	413	1	0	0	0	0	1	0	0	0	9581	1261	44	4	1198	4	MEX3D	19	1556694	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		1556694	57572289	80	82471											
GNA15	2769	broad.mit.edu	37	chr19	3163005	3163005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccgctacctggacgagatCaacctgctgtgacccaggcc	8	6	11	16	2	1	2	1	1	0	1	1	4	1	3	5	2	3	2	5	2	2	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:3163005C>G	ENST00000262958.3	+	7	1371	c.1113C>G	c.(1111-1113)atC>atG	p.I371M		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	371					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TGGACGAGATCAACCTGCTGT	0.652											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	38					0	0	0	0	G	3163005	C	G	3163005	3	3	413	1	0	0	0	0	1	0	0	0	6554	816	29	2	1139	2	GNA15	19	3163005	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	1606311	3163005	55965978	81	82472											
RFX2	5990	broad.mit.edu	37	chr19	6040136	6040136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgctgtgggaggggaccGctggcggggacgaggctgcc	5	5	20	11	3	0	0	0	0	0	0	0	4	0	3	3	7	2	3	3	7	0	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:6040136G>A	ENST00000303657.5	-	5	526	c.377C>T	c.(376-378)gCg>gTg	p.A126V	RFX2_ENST00000592546.1_Missense_Mutation_p.A126V|RFX2_ENST00000359161.3_Missense_Mutation_p.A126V	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGAGGGGACCGCTGGCGGGGA	0.677													15	91					0	0	0	0	A	6040136	G	A	6040136	3	1	413	1	0	0	0	0	1	0	0	0	13345	1087	38	1	1850	1	RFX2	19	6040136	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	2877131	6040136	53088847	82	82473											
ADAMTS10	81794	broad.mit.edu	37	chr19	8654233	8654233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggtcggagcccaggactCggtcgcagcccacgtgctgc	6	5	15	15	4	0	0	0	0	0	0	3	2	0	2	2	4	4	3	2	4	0	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:8654233C>T	ENST00000270328.4	-	17	2317	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R171Q|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R684Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	684	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCCAGGACTCGGTCGCAGCC	0.692													5	69					0	0	0	0	T	8654233	C	T	8654233	3	4	413	1	0	0	0	0	1	0	0	0	256	884	31	1	1296	1	ADAMTS10	19	8654233	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	2614097	8654233	50474750	83	82474											
OR1M1	125963	broad.mit.edu	37	chr19	9203973	9203973	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcatcctcctgggactctCagaaaagccagagcaggaga	13	7	10	11	0	2	3	2	0	1	3	5	5	4	4	3	2	2	1	3	2	2	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:9203973C>G	ENST00000429566.3	+	1	119	c.53C>G	c.(52-54)tCa>tGa	p.S18*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGGGACTCTCAGAAAAGCCA	0.498													11	77					0	0	0	0	G	9203973	C	G	9203973	4	3	413	1	0	0	0	0	0	1	0	0	11039	838	29	2	55	2	OR1M1	19	9203973	Nonsense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	549740	9203973	49925010	84	82475											
LPHN1	22859	broad.mit.edu	37	chr19	14288488	14288488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgccggggcaccgcagctCgatggggtagccttcacacg	6	6	15	14	4	1	0	1	0	0	0	2	1	1	0	3	4	3	5	3	4	1	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:14288488C>T	ENST00000340736.6	-	3	436	c.139G>A	c.(139-141)Gag>Aag	p.E47K	LPHN1_ENST00000361434.3_Missense_Mutation_p.E47K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	47	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCGCAGCTCGATGGGGTAG	0.647													36	111					0	0	0	0	T	14288488	C	T	14288488	3	4	413	1	0	0	0	0	1	0	0	0	8979	893	31	1	4373	1	LPHN1	19	14288488	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	5084515	14288488	44840495	85	82476											
ANO8	57719	broad.mit.edu	37	chr19	17439147	17439147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctggtctcggccctcgcCcccggcccggcggaacaaga	5	4	12	20	5	1	1	0	0	1	1	3	2	1	2	6	5	1	0	6	5	2	0			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:17439147C>A	ENST00000159087.4	-	13	2208	c.2050G>T	c.(2050-2052)Ggc>Tgc	p.G684C		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	684						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGGCCCTCGCCCCCGGCCCGG	0.741													3	6					1	1	1	0	A	17439147	C	A	17439147	3	1	413	1	0	0	0	0	1	0	0	0	702	623	22	4	1672	4	ANO8	19	17439147	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	3150659	17439147	41689836	86	82477											
TOMM40	10452	broad.mit.edu	37	chr19	45406290	45406290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagctcttccctgcaggctCtgtggatagcaactggatcg	7	11	11	12	1	3	0	1	0	2	0	5	2	4	2	1	3	4	4	1	3	2	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:45406290C>T	ENST00000426677.2	+	9	1130	c.950C>T	c.(949-951)tCt>tTt	p.S317F	TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Missense_Mutation_p.S317F|TOMM40_ENST00000252487.5_Missense_Mutation_p.S317F	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	317					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCTGCAGGCTCTGTGGATAGC	0.602													10	63					0	0	0	0	T	45406290	C	T	45406290	3	4	413	1	0	0	0	0	1	0	0	0	16452	913	32	2	984	2	TOMM40	19	45406290	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	27967143	45406290	13722693	87	82478											
EML2	24139	broad.mit.edu	37	chr19	46133232	46133232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacatccaccaccttggtctCcttggcccagtcccacaccg	7	8	7	19	1	1	0	0	0	1	0	4	1	3	0	7	2	0	0	7	2	0	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:46133232C>G	ENST00000536630.1	-	10	1162	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Missense_Mutation_p.E195Q|EML2_ENST00000245925.3_Missense_Mutation_p.E195Q|EML2_ENST00000587152.1_Missense_Mutation_p.E396Q	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	195					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACCTTGGTCTCCTTGGCCCAG	0.547													5	49					0	0	0	0	G	46133232	C	G	46133232	3	3	413	1	0	0	0	0	1	0	0	0	5135	864	30	2	1418	2	EML2	19	46133232	Missense_Mutation	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08	726942	46133232	12995751	88	82479											
KIAA1755	85449	broad.mit.edu	37	chr20	36869477	36869477	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagattgacctttctcctGaagcccaaattatagggcct	11	13	7	10	0	1	3	0	2	1	1	2	3	1	3	4	1	1	0	4	1	5	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:36869477G>A	ENST00000279024.4	-	3	1327	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	352										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCTTTCTCCTGAAGCCCAAAT	0.527													42	336					0	0	0	0	A	36869477	G	A	36869477	2	1	413	1	0	0	0	0	0	0	0	1	8308	1281	45	2		2	KIAA1755	20	36869477	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08		36869477	26156043	89	82480			1	120		3	3	845	G		3.344474e-06
KIAA1755	85449	broad.mit.edu	37	chr20	36869562	36869562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtccttcattggcctctGagagaggcagtatcttttga	9	13	11	8	0	3	3	1	2	2	1	4	4	4	3	2	3	0	2	2	3	2	5			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:36869562G>A	ENST00000279024.4	-	3	1242	c.971C>T	c.(970-972)tCa>tTa	p.S324L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	324										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTGGCCTCTGAGAGAGGCAG	0.498													26	285					0	0	0	0	A	36869562	G	A	36869562	3	1	413	1	0	0	0	0	1	0	0	0	8308	1294	45	2	2679	2	KIAA1755	20	36869562	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	85	36869562	26155958	90	82481			1	120		3	3	845	G		3.344474e-06
KIAA1755	85449	broad.mit.edu	37	chr20	36870321	36870321	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgtaagaagaggcagtgtGagtagggagcctgtggagag	11	7	19	4	1	0	4	0	1	0	3	0	6	0	5	1	3	1	3	1	3	3	2			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:36870321G>C	ENST00000279024.4	-	3	483	c.212C>G	c.(211-213)tCa>tGa	p.S71*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	71										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGGCAGTGTGAGTAGGGAGC	0.572													10	100					0	0	0	0	C	36870321	G	C	36870321	4	2	413	1	0	0	0	0	0	1	0	0	8308	1294	45	2	3438	2	KIAA1755	20	36870321	Nonsense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	759	36870321	26155199	91	82482			1	120		3	3	845	G		3.344474e-06
ZFP64	55734	broad.mit.edu	37	chr20	50769807	50769807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttattcccgctgtgcttGatacggatgtgcgacttgag	8	13	12	8	3	0	2	0	2	0	0	1	4	1	3	1	1	3	3	1	1	3	5	rs143459892		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:50769807G>A	ENST00000216923.4	-	6	1273	c.924C>T	c.(922-924)atC>atT	p.I308I	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.I254I|ZFP64_ENST00000371515.4_Silent_p.I306I|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGCTGTGCTTGATACGGATGT	0.572													14	111					0	0	0	0	A	50769807	G	A	50769807	2	1	413	1	0	0	0	0	0	0	0	1	17747	1280	45	2		2	ZFP64	20	50769807	Silent	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	13899486	50769807	12255713	92	82483											
TAF4	6874	broad.mit.edu	37	chr20	60587884	60587884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcacctggacgccgggcGagcgctgcagggttgcactg	5	7	15	14	4	1	0	1	0	1	0	2	2	1	1	2	3	3	4	2	3	0	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:60587884G>A	ENST00000252996.3	-	3	1627	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	543					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GACGCCGGGCGAGCGCTGCAG	0.577													20	128					0	0	0	0	A	60587884	G	A	60587884	3	1	413	1	0	0	0	0	1	0	0	0	15617	1059	37	1	1681	1	TAF4	20	60587884	Missense_Mutation	SNP	G	TCGA-H7-A76A-01A-51D-A34J-08	9818077	60587884	2437636	93	82484											
HRH3	11255	broad.mit.edu	37	chr20	60791100	60791100	+	Frame_Shift_Del	DEL	T	T	-																															cagggagctgtggggctggaTtttgagcttctgggggcaga																										TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:60791100delT	ENST00000340177.5	-	3	1584	c.1300delA	c.(1300-1302)tcfs	p.I434fs	HRH3_ENST00000317393.6_Frame_Shift_Del_p.I434fs	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	434					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TGGGGCTGGATTTTGAGCTTC	0.647													2	4	---	---	---	---					-	60791100	T	-	60791100	7	5	413	1	0	1	0	1	0	0	0	0	7407	1493	52	0	41	0	HRH3	20	60791100	Frame_Shift_Del	DEL	T	TCGA-H7-A76A-01A-51D-A34J-08	203216	60791100	2234420	94	82485											
SEZ6L	23544	broad.mit.edu	37	chr22	26695086	26695086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctaagatgctgacatgCatcaatgcctccaagccgca	11	7	10	13	2	1	2	1	1	0	1	2	2	2	2	3	1	4	4	3	1	3	1			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr22:26695086C>T	ENST00000529632.2	+	5	1495	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	SEZ6L_ENST00000248933.6_Silent_p.C433C|SEZ6L_ENST00000360929.3_Silent_p.C433C|SEZ6L_ENST00000343706.4_Silent_p.C433C|SEZ6L_ENST00000404234.3_Silent_p.C433C|SEZ6L_ENST00000402979.1_Silent_p.C206C|SEZ6L_ENST00000403121.1_Silent_p.C206C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	433	Sushi 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTGACATGCATCAATGCCT	0.597													4	36					0	0	0	0	T	26695086	C	T	26695086	2	4	413	1	0	0	0	0	0	0	0	1	14230	718	25	4		4	SEZ6L	22	26695086	Silent	SNP	C	TCGA-H7-A76A-01A-51D-A34J-08		26695086	24609480	95	82486											
PLA2G2D	26279	broad.mit.edu	37	chr1	20440744	20440744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgctcacaccagcttcCcttgtcagctgtggacggag	6	10	11	14	1	2	0	2	0	0	0	3	2	3	2	2	2	4	4	2	2	0	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:20440744C>G	ENST00000375105.3	-	4	359	c.301G>C	c.(301-303)Gga>Cga	p.G101R		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	101					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAGCTTCCCTTGTCAGCT	0.557										Multiple Myeloma(11;0.12)			13	37					0	0	0	0	G	20440744	C	G	20440744	3	3	414	1	0	0	0	0	1	0	0	0	12069	632	22	4	140	4	PLA2G2D	1	20440744	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		20440744	228809877	1	82487											
HSPG2	3339	broad.mit.edu	37	chr1	22178186	22178186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggatgggctgggtgctgccGgcagctgagggataagatgg	7	7	20	7	2	0	2	0	1	0	1	0	4	0	4	1	6	3	4	1	6	1	1	rs150649767		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:22178186G>A	ENST00000374695.3	-	55	7090	c.7011C>T	c.(7009-7011)gcC>gcT	p.A2337A	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2337	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTGCTGCCGGCAGCTGAGG	0.652													31	78					0	0	0	0	A	22178186	G	A	22178186	2	1	414	1	0	0	0	0	0	0	0	1	7483	1103	39	1		1	HSPG2	1	22178186	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	1737442	22178186	227072435	2	82488											
C1QC	714	broad.mit.edu	37	chr1	22974125	22974125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccttctgtggccacaCgtccaaaaccaatcaggtca	11	8	8	14	1	4	0	3	0	1	0	5	0	5	0	4	3	1	0	4	3	3	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:22974125C>T	ENST00000374639.3	+	3	705	c.587C>T	c.(586-588)aCg>aTg	p.T196M	C1QC_ENST00000374637.1_Missense_Mutation_p.T196M|C1QC_ENST00000374640.4_Missense_Mutation_p.T196M	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	196	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGTGGCCACACGTCCAAAACC	0.597													24	73					0	0	0	0	T	22974125	C	T	22974125	3	4	414	1	0	0	0	0	1	0	0	0	1976	536	19	1	593	1	C1QC	1	22974125	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	795939	22974125	226276496	3	82489											
MYOM3	127294	broad.mit.edu	37	chr1	24434494	24434494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcaccaagacagctcGgaggaggccgtcagagccag	11	4	13	13	2	2	3	2	1	0	2	3	5	2	5	3	3	2	1	3	3	1	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:24434494G>A	ENST00000330966.7	-	3	396	c.234C>T	c.(232-234)tcC>tcT	p.S78S	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.S77S|MYOM3_ENST00000374434.3_Silent_p.S77S			Q5VTT5	MYOM3_HUMAN	myomesin 3	77										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGACAGCTCGGAGGAGGCCG	0.652													15	43					0	0	0	0	A	24434494	G	A	24434494	2	1	414	1	0	0	0	0	0	0	0	1	10163	1103	39	1		1	MYOM3	1	24434494	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	1460369	24434494	224816127	4	82490											
C1orf172	126695	broad.mit.edu	37	chr1	27276605	27276605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgacgagtctgtgtcGgtgccctggaaggatgagtc	6	8	15	12	3	1	1	0	1	1	0	3	5	1	3	3	3	1	0	3	3	1	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:27276605G>A	ENST00000320567.5	-	4	1240	c.1152C>T	c.(1150-1152)acC>acT	p.T384T		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	384										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGTCTGTGTCGGTGCCCTGGA	0.597													14	37					0	0	0	0	A	27276605	G	A	27276605	2	1	414	1	0	0	0	0	0	0	0	1	2032	1103	39	1		1	C1orf172	1	27276605	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2842111	27276605	221974016	5	82491											
HIVEP3	59269	broad.mit.edu	37	chr1	41979227	41979227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagtctgcccgcagtgCatgtggtgggccaggcgggg	5	7	20	9	2	1	1	0	1	1	0	1	2	1	2	2	6	2	2	2	6	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:41979227C>T	ENST00000372584.1	-	7	6679	c.5665G>A	c.(5665-5667)Gca>Aca	p.A1889T	HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1889T|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1889T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1889T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1889					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCGCAGTGCATGTGGTGGG	0.657													9	27					0	0	0	0	T	41979227	C	T	41979227	3	4	414	1	0	0	0	0	1	0	0	0	7238	710	25	4	1563	4	HIVEP3	1	41979227	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	14702622	41979227	207271394	6	82492											
CCDC24	149473	broad.mit.edu	37	chr1	44461731	44461731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttcgacctcgaggcCagtcggctacccaccgctgg	6	7	10	18	4	0	0	0	0	0	0	3	2	0	0	6	3	2	2	6	3	2	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:44461731C>G	ENST00000372318.3	+	9	994	c.823C>G	c.(823-825)Cag>Gag	p.Q275E	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	275										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACCTCGAGGCCAGTCGGCTAC	0.682													22	51					0	0	0	0	G	44461731	C	G	44461731	3	3	414	1	0	0	0	0	1	0	0	0	2825	595	21	4	853	4	CCDC24	1	44461731	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	2482504	44461731	204788890	7	82493											
OSBPL9	114883	broad.mit.edu	37	chr1	52249590	52249590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaatttctattcagtttCagccttttatgctgagtgtt	9	19	7	6	0	3	2	2	2	1	0	3	2	3	2	1	0	2	3	1	0	4	7			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:52249590C>T	ENST00000371710.3	+	18	1753	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	OSBPL9_ENST00000531828.1_Missense_Mutation_p.S341L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S506L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S328L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S425L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S493L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S489L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S511L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S516L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S396L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S341L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S328L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	506					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TATTCAGTTTCAGCCTTTTAT	0.363													15	25					0	0	0	0	T	52249590	C	T	52249590	3	4	414	1	0	0	0	0	1	0	0	0	11355	838	29	2	1691	2	OSBPL9	1	52249590	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	7787859	52249590	197001031	8	82494											
PDE4B	5142	broad.mit.edu	37	chr1	66723334	66723334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctcttttcaccagacacGgcgatgacttgattgtaact	9	15	7	10	2	2	3	1	2	1	1	3	4	2	3	1	1	1	1	1	1	1	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:66723334G>A	ENST00000423207.2	+	3	921	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	PDE4B_ENST00000371049.3_Missense_Mutation_p.G161S|PDE4B_ENST00000329654.4_Missense_Mutation_p.G161S|PDE4B_ENST00000371048.3_3'UTR	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	161					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CACCAGACACGGCGATGACTT	0.368													46	124					0	0	0	0	A	66723334	G	A	66723334	3	1	414	1	0	0	0	0	1	0	0	0	11711	1116	39	1	735	1	PDE4B	1	66723334	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	14473744	66723334	182527287	9	82495											
FAM73A	374986	broad.mit.edu	37	chr1	78340631	78340631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgcagttactcattcGccgcactgagcttttaatgg	8	13	8	12	2	2	1	2	1	0	0	3	1	2	1	2	1	3	4	2	1	2	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:78340631G>A	ENST00000370791.3	+	16	1813	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	FAM73A_ENST00000443751.2_Missense_Mutation_p.R557H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	594						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TTACTCATTCGCCGCACTGAG	0.423													11	36					0	0	0	0	A	78340631	G	A	78340631	3	1	414	1	0	0	0	0	1	0	0	0	5663	1087	38	1	1843	1	FAM73A	1	78340631	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	11617297	78340631	170909990	10	82496											
GBP4	115361	broad.mit.edu	37	chr1	89651007	89651007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtagagtgacaatcAttatgttgctagccatgtca	11	11	9	10	0	2	2	2	1	0	1	2	2	2	2	3	1	2	3	3	1	4	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:89651007A>G	ENST00000355754.6	-	11	1950	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	618						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGTGACAATCATTATGTTGCT	0.353													9	42					0	0	0	0	G	89651007	A	G	89651007	3	3	414	1	0	0	0	0	1	0	0	0	6325	217	8	5	73	5	GBP4	1	89651007	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	11310376	89651007	159599614	11	82497											
CELSR2	1952	broad.mit.edu	37	chr1	109793107	109793109	+	In_Frame_Del	DEL	CCG	CCG	-																															tcacactgcccgaggagcacCcgtgcttaaaggctccacgg																										TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:109793107_109793109delCCG	ENST00000271332.3	+	1	467_469	c.406_408delCCG	c.(406-408)del	p.P136del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	136					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.P136Q(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGAGGAGCACCCGTGCTTAAAGG	0.66													32	61	---	---	---	---					-	109793109	CCG	-	109793107	7	5	414	1	0	1	0	1	0	0	0	0	3251	623	22	0	408	0	CELSR2	1	109793107	In_Frame_Del	DEL	CCG	TCGA-HD-7229-01A-11D-2012-08	20142100	109793107	139457514	12	82498											
NAV1	89796	broad.mit.edu	37	chr1	201750276	201750276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgggacttctaagtggcGgagggagcggcctgagagct	8	7	17	9	2	1	1	0	1	1	1	1	5	1	4	2	5	2	1	2	5	1	2	rs143487790		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:201750276G>A	ENST00000367296.4	+	5	1922	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	NAV1_ENST00000367300.3_Missense_Mutation_p.R501Q|NAV1_ENST00000367295.1_Missense_Mutation_p.R110Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R501Q|NAV1_ENST00000367302.1_Missense_Mutation_p.R514Q|NAV1_ENST00000295624.6_Missense_Mutation_p.R501Q	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCTAAGTGGCGGAGGGAGCGG	0.542													31	69					0	0	0	0	A	201750276	G	A	201750276	3	1	414	1	0	0	0	0	1	0	0	0	10253	1116	39	1	1577	1	NAV1	1	201750276	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	91957169	201750276	47500345	13	82499											
ESRRG	2104	broad.mit.edu	37	chr1	216680338	216680338	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcattgggactttgccttcTagtttgatgttgtagaaatg	8	17	11	5	0	1	2	0	1	1	1	1	3	1	3	1	1	2	4	1	1	3	7			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:216680338T>C	ENST00000391890.3	-	9	1789	c.1272A>G	c.(1270-1272)ctA>ctG	p.L424L	ESRRG_ENST00000366940.2_Silent_p.L417L|ESRRG_ENST00000487276.1_Silent_p.L417L|ESRRG_ENST00000359162.2_Silent_p.L417L|ESRRG_ENST00000463665.1_Silent_p.L378L|ESRRG_ENST00000408911.3_Silent_p.L440L|ESRRG_ENST00000366938.2_Silent_p.L417L|ESRRG_ENST00000493748.1_Silent_p.L417L|ESRRG_ENST00000366937.1_Silent_p.L452L|ESRRG_ENST00000360012.3_Silent_p.L417L|ESRRG_ENST00000493603.1_Silent_p.L417L|ESRRG_ENST00000361525.3_Silent_p.L417L|ESRRG_ENST00000361395.2_Silent_p.L417L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	440					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTTGCCTTCTAGTTTGATGT	0.493													11	56					0	0	0	0	C	216680338	T	C	216680338	2	2	414	1	0	0	0	0	0	0	0	1	5300	1509	53	5		5	ESRRG	1	216680338	Silent	SNP	T	TCGA-HD-7229-01A-11D-2012-08	14930062	216680338	32570283	14	82500											
C1orf65	164127	broad.mit.edu	37	chr1	223567884	223567884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaggaccaggagagccCgcgccaggagaagctggaga	13	1	16	11	2	0	4	0	0	0	4	0	8	0	5	4	4	2	1	4	4	1	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:223567884C>T	ENST00000366875.3	+	1	1170	c.1067C>T	c.(1066-1068)cCg>cTg	p.P356L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	356								p.P356L(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CAGGAGAGCCCGCGCCAGGAG	0.687													6	11					0	0	0	0	T	223567884	C	T	223567884	3	4	414	1	0	0	0	0	1	0	0	0	2075	652	23	1	1069	1	C1orf65	1	223567884	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	6887546	223567884	25682737	15	82501											
PLD5	200150	broad.mit.edu	37	chr1	242287898	242287898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattttaatgaactatataGagcaaatatcctttgtaaat	17	15	5	4	0	0	2	0	1	0	1	1	3	1	2	1	0	2	2	1	0	10	8			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:242287898G>C	ENST00000442594.2	-	7	1038	c.529C>G	c.(529-531)Cta>Gta	p.L177V	PLD5_ENST00000427495.1_Missense_Mutation_p.L207V|PLD5_ENST00000536534.1_Missense_Mutation_p.L269V	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	269						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GAACTATATAGAGCAAATATC	0.368													7	25					0	0	0	0	C	242287898	G	C	242287898	3	2	414	1	0	0	0	0	1	0	0	0	12121	933	33	2	825	2	PLD5	1	242287898	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	18720014	242287898	6962723	16	82502											
DNAJC5G	285126	broad.mit.edu	37	chr2	27499677	27499677	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggatcttaagaagggCgcctcacctgaagacttcaa	11	9	11	10	1	3	3	2	1	1	2	3	4	3	4	2	2	1	1	2	2	4	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:27499677C>A	ENST00000296097.3	+	3	499	c.81C>A	c.(79-81)ggC>ggA	p.G27G	DNAJC5G_ENST00000406962.1_Silent_p.G27G|DNAJC5G_ENST00000402462.1_Silent_p.G27G|DNAJC5G_ENST00000404433.1_Silent_p.G27G	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	27	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAAGAAGGGCGCCTCACCTG	0.463													20	21					1.01871e-10	1.91475e-10	1	0	A	27499677	C	A	27499677	2	1	414	1	0	0	0	0	0	0	0	1	4688	755	27	3		3	DNAJC5G	2	27499677	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08		27499677	215699696	17	82503											
PRKCE	5581	broad.mit.edu	37	chr2	46378288	46378288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggccgacaatgaggacGacctatttgagtccatcctc	10	10	10	11	2	0	3	0	3	0	0	3	6	2	4	4	2	0	0	4	2	2	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:46378288G>T	ENST00000306156.3	+	13	2167	c.1840G>T	c.(1840-1842)Gac>Tac	p.D614Y		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	614	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAATGAGGACGACCTATTTGA	0.587													10	36					3.86212e-05	6.86387e-05	1	0	T	46378288	G	T	46378288	3	4	414	1	0	0	0	0	1	0	0	0	12591	1058	37	3	1890	3	PRKCE	2	46378288	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	18878611	46378288	196821085	18	82504											
LRRTM4	80059	broad.mit.edu	37	chr2	77745481	77745481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagagatggtatatgtgcagGgcccagatccattaaccgat	12	9	11	9	1	0	2	0	0	0	2	1	4	1	2	3	2	2	2	3	2	3	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:77745481G>T	ENST00000409088.3	-	3	1928	c.1514C>A	c.(1513-1515)cCc>cAc	p.P505H	LRRTM4_ENST00000409282.1_Missense_Mutation_p.P506H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P505H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P506H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P505H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	505						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATATGTGCAGGGCCCAGATCC	0.443													12	23					2.80697e-09	5.22126e-09	1	0	T	77745481	G	T	77745481	3	4	414	1	0	0	0	0	1	0	0	0	9106	1232	43	4	272	4	LRRTM4	2	77745481	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	31367193	77745481	165453892	19	82505											
LRP1B	53353	broad.mit.edu	37	chr2	141294273	141294273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataagcgttgcaggaggaatTtttagctgcaagaaaaaaaa	18	9	10	4	1	0	1	0	0	0	1	0	3	0	3	0	2	4	4	0	2	8	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:141294273T>C	ENST00000389484.3	-	46	8490	c.7519A>G	c.(7519-7521)Aat>Gat	p.N2507D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2507					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGAGGAATTTTTAGCTGCA	0.328										TSP Lung(27;0.18)			5	33					0	0	0	0	C	141294273	T	C	141294273	3	2	414	1	0	0	0	0	1	0	0	0	9019	1841	64	5	6464	5	LRP1B	2	141294273	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	63548792	141294273	101905100	20	82506											
LRP1B	53353	broad.mit.edu	37	chr2	141571249	141571249	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggttagggctgtagctTttgttaattcttctttcatt	6	21	9	5	0	3	1	1	1	2	0	3	1	3	1	0	2	1	5	0	2	3	9			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:141571249T>G	ENST00000389484.3	-	32	6307	c.5336A>C	c.(5335-5337)aAa>aCa	p.K1779T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1779					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTGTAGCTTTTGTTAATTC	0.358										TSP Lung(27;0.18)			22	35					0	0	0	0	G	141571249	T	G	141571249	3	3	414	1	0	0	0	0	1	0	0	0	9019	1841	64	5	8703	5	LRP1B	2	141571249	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	276976	141571249	101628124	21	82507											
XIRP2	129446	broad.mit.edu	37	chr2	168102128	168102128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacataatattatgcccaGtattgaccatatacaaggtg	15	12	6	8	0	1	1	1	1	0	0	1	1	1	1	2	1	2	1	2	1	7	7			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:168102128G>A	ENST00000409195.1	+	9	4315	c.4226G>A	c.(4225-4227)aGt>aAt	p.S1409N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1409N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1187N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1234					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTATGCCCAGTATTGACCAT	0.343													5	36					0	0	0	0	A	168102128	G	A	168102128	3	1	414	1	0	0	0	0	1	0	0	0	17526	1029	36	4	4256	4	XIRP2	2	168102128	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	26530879	168102128	75097245	22	82508											
TFPI	7035	broad.mit.edu	37	chr2	188368459	188368459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcagcaggcatacagaagCccaaagtgcatgtactttct	14	8	9	10	0	1	1	0	0	1	1	1	1	1	1	1	1	6	5	1	1	5	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:188368459C>T	ENST00000233156.3	-	2	331	c.37G>A	c.(37-39)Gct>Act	p.A13T	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.A13T|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.A13T|TFPI_ENST00000409676.1_Missense_Mutation_p.A13T	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	13					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CATACAGAAGCCCAAAGTGCA	0.368													16	53					0	0	0	0	T	188368459	C	T	188368459	3	4	414	1	0	0	0	0	1	0	0	0	15902	739	26	4	1037	4	TFPI	2	188368459	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	20266331	188368459	54830914	23	82509											
ABI2	10152	broad.mit.edu	37	chr2	204291988	204291988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcatcaagaagaatgaCgatggttggtatgagggagt	13	11	14	3	1	2	4	2	2	0	2	2	6	2	5	0	3	0	2	0	3	5	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:204291988C>G	ENST00000295851.4	+	11	1751	c.1455C>G	c.(1453-1455)gaC>gaG	p.D485E	ABI2_ENST00000261017.5_Missense_Mutation_p.D447E|ABI2_ENST00000430418.1_Missense_Mutation_p.D430E|ABI2_ENST00000261018.7_Missense_Mutation_p.D271E|ABI2_ENST00000424558.1_Missense_Mutation_p.D479E|ABI2_ENST00000422511.2_Missense_Mutation_p.D452E|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261016.6_Missense_Mutation_p.D373E			Q9NYB9	ABI2_HUMAN	abl-interactor 2	485	SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGAAGAATGACGATGGTTGGT	0.423													17	29					0	0	0	0	G	204291988	C	G	204291988	3	3	414	1	0	0	0	0	1	0	0	0	89	535	19	3	1379	3	ABI2	2	204291988	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	15923529	204291988	38907385	24	82510											
WNT10A	80326	broad.mit.edu	37	chr2	219747032	219747032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctgcctcagccatacaggGcatccagatcgccatccacg	9	6	10	16	2	1	1	1	0	0	1	4	1	3	1	5	2	3	2	5	2	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:219747032G>A	ENST00000258411.3	+	2	896	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	88					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATACAGGGCATCCAGATC	0.582													25	65					0	0	0	0	A	219747032	G	A	219747032	3	1	414	1	0	0	0	0	1	0	0	0	17478	1203	42	4	269	4	WNT10A	2	219747032	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	15455044	219747032	23452341	25	82511											
NMUR1	10316	broad.mit.edu	37	chr2	232393435	232393435	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgacacggccaggctgaaGaggtagtagttggtaggcgt	9	8	16	8	3	0	2	0	1	0	1	1	3	1	2	2	5	0	5	2	5	4	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:232393435G>C	ENST00000305141.4	-	2	430	c.297C>G	c.(295-297)ctC>ctG	p.L99L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	99					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGCTGAAGAGGTAGTAGT	0.622													38	71					0	0	0	0	C	232393435	G	C	232393435	2	2	414	1	0	0	0	0	0	0	0	1	10576	929	33	2		2	NMUR1	2	232393435	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	12646403	232393435	10805938	26	82512											
DGKD	8527	broad.mit.edu	37	chr2	234368410	234368410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctgctcagtgtcgcaCggtgaagatctccatccttg	7	12	11	11	2	3	2	1	1	2	1	6	3	4	2	2	1	1	2	2	1	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:234368410C>T	ENST00000264057.2	+	23	2714	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M	DGKD_ENST00000409813.3_Missense_Mutation_p.T857M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	901					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CAGTGTCGCACGGTGAAGATC	0.562													14	32					0	0	0	0	T	234368410	C	T	234368410	3	4	414	1	0	0	0	0	1	0	0	0	4504	536	19	1	2816	1	DGKD	2	234368410	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	1974975	234368410	8830963	27	82513											
ITPR1	3708	broad.mit.edu	37	chr3	4725402	4725402	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatcgtggaaaagtcaGagctttgggtgtacaaaggg	11	9	15	6	1	1	1	1	0	0	1	3	2	2	2	1	4	2	2	1	4	4	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:4725402G>T	ENST00000302640.8	+	27	3723	c.3373G>T	c.(3373-3375)Gag>Tag	p.E1125*	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.E1131*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.E1131*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.E1140*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.E1125*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.E1116*	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1140					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAAAAGTCAGAGCTTTGGGT	0.448													4	54					2.56e-06	4.61829e-06	1	0	T	4725402	G	T	4725402	4	4	414	1	0	0	0	0	0	1	0	0	7973	943	33	2	3520	2	ITPR1	3	4725402	Nonsense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		4725402	193297028	28	82514											
NEK11	79858	broad.mit.edu	37	chr3	130748710	130748710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcagacaagaaagccaaacGaggagaggaattgtaagtaa	19	6	11	5	1	1	3	1	0	0	3	1	6	1	4	1	2	2	2	1	2	6	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:130748710G>C	ENST00000383366.4	+	3	451	c.158G>C	c.(157-159)cGa>cCa	p.R53P	NEK11_ENST00000508196.1_Missense_Mutation_p.R53P|NEK11_ENST00000507910.1_Missense_Mutation_p.R53P|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.R53P|NEK11_ENST00000429253.2_Missense_Mutation_p.R53P|NEK11_ENST00000511262.1_Missense_Mutation_p.R53P|NEK11_ENST00000510769.1_Missense_Mutation_p.R53P|NEK11_ENST00000510688.1_Missense_Mutation_p.R53P	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	53	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AAAGCCAAACGAGGAGAGGAA	0.413													17	38					0	0	0	0	C	130748710	G	C	130748710	3	2	414	1	0	0	0	0	1	0	0	0	10393	1058	37	3	160	3	NEK11	3	130748710	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	126023308	130748710	67273720	29	82515											
CLDN18	51208	broad.mit.edu	37	chr3	137717874	137717874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtggcgctcctgtgtccGagagagctctggcttcaccg	4	10	14	13	3	2	1	1	0	1	1	4	3	4	1	3	2	1	4	3	2	0	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:137717874G>A	ENST00000343735.4	+	1	298	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	55					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TCCTGTGTCCGAGAGAGCTCT	0.602													28	73					0	0	0	0	A	137717874	G	A	137717874	3	1	414	1	0	0	0	0	1	0	0	0	3509	1058	37	1	166	1	CLDN18	3	137717874	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	6969164	137717874	60304556	30	82516											
SI	6476	broad.mit.edu	37	chr3	164754249	164754249	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaatgcgactataagtcCtagaggattcttacggctgt	11	12	9	9	2	1	1	0	0	1	1	2	3	2	2	2	2	2	1	2	2	5	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:164754249C>A	ENST00000264382.3	-	22	2505	c.2443G>T	c.(2443-2445)Gga>Tga	p.G815*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	815	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTATAAGTCCTAGAGGATTC	0.338										HNSCC(35;0.089)			15	43					0.000422831	0.0007441	1	0	A	164754249	C	A	164754249	4	1	414	1	0	0	0	0	0	1	0	0	14385	690	24	4	3148	4	SI	3	164754249	Nonsense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	27036375	164754249	33268181	31	82517											
ZBBX	79740	broad.mit.edu	37	chr3	167031903	167031903	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaatcatgaaaagcacAactttcacatgtaggaacaa	18	8	6	9	0	2	2	2	2	0	0	2	3	2	3	0	1	3	2	0	1	7	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:167031903A>C	ENST00000392766.2	-	16	1616	c.1274_splice	c.e16-1	p.C426_splice	ZBBX_ENST00000392767.2_Splice_Site_p.C426_splice|ZBBX_ENST00000307529.5_Splice_Site_p.C426_splice|ZBBX_ENST00000392764.1_Splice_Site_p.C397_splice|ZBBX_ENST00000455345.2_Splice_Site_p.C426_splice	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	426						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGAAAAGCACAACTTTCACAT	0.284													4	73					0	0	0	0	C	167031903	A	C	167031903	5	2	414	1	0	0	0	0	0	0	1	0	17612	144	5	5	1150	5	ZBBX	3	167031903	Splice_Site	SNP	A	TCGA-HD-7229-01A-11D-2012-08	2277654	167031903	30990527	32	82518											
NCEH1	57552	broad.mit.edu	37	chr3	172365793	172365793	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacaccatcaaagtctgtgtCggtcaccttcacttgggcag	9	10	9	13	1	4	0	3	0	1	0	5	0	4	0	2	2	0	1	2	2	1	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:172365793C>G	ENST00000475381.1	-	2	483	c.250G>C	c.(250-252)Gac>Cac	p.D84H	NCEH1_ENST00000273512.3_Missense_Mutation_p.D116H|NCEH1_ENST00000538775.1_Missense_Mutation_p.D116H|NCEH1_ENST00000543711.1_Intron			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	84					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAGTCTGTGTCGGTCACCTTC	0.517													13	83					0	0	0	0	G	172365793	C	G	172365793	3	3	414	1	0	0	0	0	1	0	0	0	10285	884	31	3	1016	3	NCEH1	3	172365793	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	5333890	172365793	25656637	33	82519											
KNG1	3827	broad.mit.edu	37	chr3	186459996	186459996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttcatttaacccaatatCagattttccagacacgacct	12	13	3	13	1	2	2	2	0	0	2	3	3	3	2	4	0	1	0	4	0	3	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:186459996C>T	ENST00000265023.4	+	10	2023	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	604					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AACCCAATATCAGATTTTCCA	0.423													32	114					0	0	0	0	T	186459996	C	T	186459996	3	4	414	1	0	0	0	0	1	0	0	0	8479	838	29	2	1849	2	KNG1	3	186459996	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	14094203	186459996	11562434	34	82520											
EVC2	132884	broad.mit.edu	37	chr4	5586437	5586437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagcaagtcctggatGctgaggagggcggtgtaggc	8	7	18	8	1	0	1	0	1	0	0	2	4	2	4	2	6	2	3	2	6	2	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:5586437G>C	ENST00000310917.2	-	17	3461	c.2730C>G	c.(2728-2730)agC>agG	p.S910R	EVC2_ENST00000344938.1_Missense_Mutation_p.S990R|EVC2_ENST00000344408.5_Missense_Mutation_p.S990R	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	990						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGTCCTGGATGCTGAGGAGGG	0.617													6	38					0	0	0	0	C	5586437	G	C	5586437	3	2	414	1	0	0	0	0	1	0	0	0	5324	1310	46	4	980	4	EVC2	4	5586437	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		5586437	185567839	35	82521											
SHROOM3	57619	broad.mit.edu	37	chr4	77660159	77660159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatccacaccctggcatctCtggccgggagcgttcaggct	6	9	12	14	2	2	0	1	0	1	0	4	1	3	1	3	4	1	4	3	4	1	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:77660159C>G	ENST00000296043.6	+	5	1786	c.833C>G	c.(832-834)tCt>tGt	p.S278C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	278					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTGGCATCTCTGGCCGGGAG	0.527													17	64					0	0	0	0	G	77660159	C	G	77660159	3	3	414	1	0	0	0	0	1	0	0	0	14383	913	32	2	851	2	SHROOM3	4	77660159	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	72073722	77660159	113494117	36	82522											
C4orf21	55345	broad.mit.edu	37	chr4	113462064	113462064	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgattgaatcagcttgagTgtaaacgtagcttctgccac	11	12	10	8	1	2	3	1	3	1	0	2	3	2	3	1	0	4	4	1	0	4	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:113462064T>A	ENST00000505019.1	-	26	5948	c.5823A>T	c.(5821-5823)acA>acT	p.T1941T	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCAGCTTGAGTGTAAACGTAG	0.358													5	5					0	0	0	0	A	113462064	T	A	113462064	2	1	414	1	0	0	0	0	0	0	0	1	2275	1683	59	5		5	C4orf21	4	113462064	Silent	SNP	T	TCGA-HD-7229-01A-11D-2012-08	35801905	113462064	77692212	37	82523											
GYPA	2993	broad.mit.edu	37	chr4	145039887	145039887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggttcagagaaatgatggGcaagttgtaccctttctcct	9	13	10	9	0	2	2	1	1	1	1	3	3	2	2	2	2	1	4	2	2	3	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:145039887G>A	ENST00000360771.4	-	4	366	c.251C>T	c.(250-252)gCc>gTc	p.A84V	GYPA_ENST00000504786.1_Missense_Mutation_p.A52V|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.A58V|GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Missense_Mutation_p.A19V|GYPA_ENST00000324022.10_Missense_Mutation_p.A51V	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	84			A -> P (in ENEP/HAG antigen).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GAAATGATGGGCAAGTTGTAC	0.313													36	17					0	0	0	0	A	145039887	G	A	145039887	3	1	414	1	0	0	0	0	1	0	0	0	6958	1203	42	4	217	4	GYPA	4	145039887	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	31577823	145039887	46114389	38	82524											
GUCY1B3	2983	broad.mit.edu	37	chr4	156724819	156724819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgacagtgagtggtttacCagagccatgcattcaccatg	11	11	10	9	0	1	3	1	2	0	1	1	3	1	3	3	1	3	2	3	1	2	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:156724819C>T	ENST00000264424.8	+	11	1539	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.P466L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.P508L|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.P418L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.P453L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.P418L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.P461L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	486	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGTGGTTTACCAGAGCCATGC	0.428													10	9					0	0	0	0	T	156724819	C	T	156724819	3	4	414	1	0	0	0	0	1	0	0	0	6945	594	21	4	1499	4	GUCY1B3	4	156724819	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	11684932	156724819	34429457	39	82525											
NPY1R	4886	broad.mit.edu	37	chr4	164247590	164247590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagctaaggtaaatatCatggccaagggcagatgaca	16	6	12	7	0	1	3	1	1	0	2	1	3	1	3	1	3	1	4	1	3	6	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:164247590C>A	ENST00000296533.2	-	2	648	c.117G>T	c.(115-117)atG>atT	p.M39I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	39					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGTAAATATCATGGCCAAGG	0.408													32	24					5.45727e-16	1.04768e-15	1	0	A	164247590	C	A	164247590	3	1	414	1	0	0	0	0	1	0	0	0	10679	826	29	2	1045	2	NPY1R	4	164247590	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	7522771	164247590	26906686	40	82526											
TRIO	7204	broad.mit.edu	37	chr5	14477072	14477072	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccctttttgttaaacaCgtaagcacaatagcattgct	12	13	7	9	1	0	0	0	0	0	0	1	1	1	1	1	1	4	5	1	1	5	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:14477072C>G	ENST00000344204.4	+	41	6177	c.6153_splice	c.e41+1	p.H2051_splice	TRIO_ENST00000537187.1_Splice_Site_p.H2051_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2051	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.H2051H(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGTTAAACACGTAAGCACAA	0.353													4	20					0	0	0	0	G	14477072	C	G	14477072	5	3	414	1	0	0	0	0	0	0	1	0	16647	550	19	3	6315	3	TRIO	5	14477072	Splice_Site	SNP	C	TCGA-HD-7229-01A-11D-2012-08		14477072	166438188	41	82527											
CDH18	1016	broad.mit.edu	37	chr5	19483518	19483518	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacacgcccatctctctCgcatgcacaaaccctgatgg	9	7	7	18	3	2	1	0	1	2	0	4	1	2	1	3	1	2	3	3	1	1	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:19483518C>A	ENST00000507958.1	-	14	2764	c.1774G>T	c.(1774-1776)Gag>Tag	p.E592*	CDH18_ENST00000502796.1_Silent_p.A555A|CDH18_ENST00000506372.1_Silent_p.A556A|CDH18_ENST00000382275.1_Nonsense_Mutation_p.E592*|CDH18_ENST00000274170.4_Nonsense_Mutation_p.E592*			Q13634	CAD18_HUMAN	cadherin 18, type 2	592	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCATCTCTCTCGCATGCACAA	0.517													9	31					0.00448238	0.00777379	1	0	A	19483518	C	A	19483518	4	1	414	1	0	0	0	0	0	1	0	0	3132	893	31	3	606	3	CDH18	5	19483518	Nonsense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	5006446	19483518	161431742	42	82528											
FBN2	2201	broad.mit.edu	37	chr5	127614517	127614517	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagtacctctgcaaagcaGagaccctgtcgattgtctga	10	10	10	11	1	2	2	0	1	2	1	3	4	2	2	2	0	4	4	2	0	2	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:127614517G>C	ENST00000508053.1	-	63	8129	c.7155C>G	c.(7153-7155)ctC>ctG	p.L2385L	FBN2_ENST00000262464.4_Silent_p.L2385L			P35556	FBN2_HUMAN	fibrillin 2	2385	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCAAAGCAGAGACCCTGTC	0.468													13	29					0	0	0	0	C	127614517	G	C	127614517	2	2	414	1	0	0	0	0	0	0	0	1	5748	929	33	2		2	FBN2	5	127614517	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	108130999	127614517	53300743	43	82529											
C5orf20	140947	broad.mit.edu	37	chr5	134782555	134782555	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattgaactgccccctctcGcaggaccccagctggcaagg	9	6	11	15	1	1	1	0	1	1	0	2	3	1	2	4	3	3	3	4	3	3	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:134782555G>A	ENST00000503143.2	-	1	483	c.244C>T	c.(244-246)Cga>Tga	p.R82*	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	82						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCCCTCTCGCAGGACCCCA	0.592													19	54					0	0	0	0	A	134782555	G	A	134782555	4	1	414	1	0	0	0	0	0	1	0	0	2305	1095	38	1	494	1	C5orf20	5	134782555	Nonsense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	7168038	134782555	46132705	44	82530											
DSP	1832	broad.mit.edu	37	chr6	7579931	7579931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcaaggagaaggagtacGagattgaaaggttgagggtt	14	8	15	4	1	1	4	1	2	0	2	1	7	1	5	1	4	1	3	1	4	4	4	rs139582608		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:7579931G>A	ENST00000379802.3	+	23	3849	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	DSP_ENST00000418664.2_Missense_Mutation_p.E1170K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1170	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1170K(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGAGTACGAGATTGAAAG	0.438													9	15					0	0	0	0	A	7579931	G	A	7579931	3	1	414	1	0	0	0	0	1	0	0	0	4817	1059	37	1	3598	1	DSP	6	7579931	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		7579931	163535136	45	82531											
JARID2	3720	broad.mit.edu	37	chr6	15517481	15517481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgccgagggctgaagttGatgtaccgctacgatgaggt	8	10	14	9	3	0	3	0	3	0	0	1	5	1	3	3	2	3	4	3	2	3	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:15517481G>C	ENST00000341776.2	+	17	3784	c.3540G>C	c.(3538-3540)ttG>ttC	p.L1180F	JARID2_ENST00000397311.3_Missense_Mutation_p.L1008F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1180					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGCTGAAGTTGATGTACCGCT	0.622													18	66					0	0	0	0	C	15517481	G	C	15517481	3	2	414	1	0	0	0	0	1	0	0	0	7998	1281	45	2	3606	2	JARID2	6	15517481	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	7937550	15517481	155597586	46	82532											
KDM1B	221656	broad.mit.edu	37	chr6	18208370	18208370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttttgagcaggtgcagtGtattgattattctggagatg	8	16	13	4	0	1	3	0	2	1	1	1	4	1	3	0	2	2	4	0	2	2	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:18208370G>T	ENST00000388870.2	+	17	2043	c.1802G>T	c.(1801-1803)tGt>tTt	p.C601F	KDM1B_ENST00000397244.1_Missense_Mutation_p.C369F|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.C368F			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	600					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CAGGTGCAGTGTATTGATTAT	0.428													12	60					0.000308642	0.000545825	1	0	T	18208370	G	T	18208370	3	4	414	1	0	0	0	0	1	0	0	0	8176	1377	48	4	1145	4	KDM1B	6	18208370	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2690889	18208370	152906697	47	82533											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834778	27834778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggtttggcagcggccttgGccttcttagggctcttcgcc	2	13	13	13	3	2	0	0	0	2	0	4	0	2	0	3	5	1	3	3	5	1	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:27834778G>A	ENST00000331442.3	-	1	581	c.530C>T	c.(529-531)gCc>gTc	p.A177V		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	177					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AGCGGCCTTGGCCTTCTTAGG	0.587													45	91					0	0	0	0	A	27834778	G	A	27834778	3	1	414	1	0	0	0	0	1	0	0	0	7173	1203	42	4	154	4	HIST1H1B	6	27834778	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	9626408	27834778	143280289	48	82534											
ZNF318	24149	broad.mit.edu	37	chr6	43323114	43323114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggaacagcggtcagctGagaagcggtggtcaactgag	11	6	16	8	2	2	3	2	3	0	1	2	5	2	4	0	4	5	1	0	4	3	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:43323114G>A	ENST00000361428.2	-	4	2035	c.1958C>T	c.(1957-1959)tCa>tTa	p.S653L	ZNF318_ENST00000318149.3_Missense_Mutation_p.S653L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	653					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCGGTCAGCTGAGAAGCGGTG	0.537													28	83					0	0	0	0	A	43323114	G	A	43323114	3	1	414	1	0	0	0	0	1	0	0	0	17931	1294	45	2	4909	2	ZNF318	6	43323114	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	15488336	43323114	127791953	49	82535											
GPR110	266977	broad.mit.edu	37	chr6	46977268	46977268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccagacatcagcaatcaAgagggacagggctatgttca	16	6	10	9	0	3	2	3	0	0	2	3	3	3	3	1	2	2	3	1	2	4	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:46977268A>C	ENST00000371253.2	-	11	2118	c.1903T>G	c.(1903-1905)Ttg>Gtg	p.L635V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.L438V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	635					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCAGCAATCAAGAGGGACAGG	0.458													15	17					0	0	0	0	C	46977268	A	C	46977268	3	2	414	1	0	0	0	0	1	0	0	0	6676	69	3	5	849	5	GPR110	6	46977268	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	3654154	46977268	124137799	50	82536											
MDN1	23195	broad.mit.edu	37	chr6	90384055	90384055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaagttgtcccttgctaaGttctggtccttccaggcagg	8	12	10	11	0	1	0	0	0	1	0	4	0	4	0	3	3	1	4	3	3	2	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:90384055G>T	ENST00000369393.3	-	79	13130	c.13015C>A	c.(13015-13017)Ctt>Att	p.L4339I	MDN1_ENST00000428876.1_Missense_Mutation_p.L4339I|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4339					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTTGCTAAGTTCTGGTCCT	0.587													37	39					3.93418e-24	7.71788e-24	1	0	T	90384055	G	T	90384055	3	4	414	1	0	0	0	0	1	0	0	0	9484	1029	36	4	3871	4	MDN1	6	90384055	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	43406787	90384055	80731012	51	82537											
SOBP	55084	broad.mit.edu	37	chr6	107824913	107824913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctggtatggctatgataAggttgaattaaaagatggtg	12	13	14	2	0	0	3	0	2	0	1	0	3	0	3	0	5	0	4	0	5	6	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:107824913A>C	ENST00000317357.5	+	2	808	c.149A>C	c.(148-150)aAg>aCg	p.K50T		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	50							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGCTATGATAAGGTTGAATTA	0.388													19	108					0	0	0	0	C	107824913	A	C	107824913	3	2	414	1	0	0	0	0	1	0	0	0	15000	72	3	5	155	5	SOBP	6	107824913	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	17440858	107824913	63290154	52	82538											
RSPH4A	345895	broad.mit.edu	37	chr6	116949485	116949485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaagtgattgatctagtaGaatccctatccaattgggtt	11	14	8	8	0	1	3	0	2	1	1	4	3	4	3	3	1	0	2	3	1	6	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:116949485G>C	ENST00000229554.5	+	3	1752	c.1615G>C	c.(1615-1617)Gaa>Caa	p.E539Q	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E539Q	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	539	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCTAGTAGAATCCCTATC	0.423									Kartagener syndrome				25	144					0	0	0	0	C	116949485	G	C	116949485	3	2	414	1	0	0	0	0	1	0	0	0	13791	943	33	2	1625	2	RSPH4A	6	116949485	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	9124572	116949485	54165582	53	82539											
FAM162B	221303	broad.mit.edu	37	chr6	117086702	117086702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcggactgttagcccgCggccaaggcgcagtaggctc	7	5	15	14	5	0	0	0	0	0	0	1	1	0	1	2	4	2	5	2	4	3	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:117086702C>T	ENST00000368557.4	-	1	184	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	13						integral to membrane				large_intestine(2)|lung(4)	6						TGTTAGCCCGCGGCCAAGGCG	0.761													7	6					0	0	0	0	T	117086702	C	T	117086702	3	4	414	1	0	0	0	0	1	0	0	0	5516	768	27	1	466	1	FAM162B	6	117086702	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	137217	117086702	54028365	54	82540											
RFX6	222546	broad.mit.edu	37	chr6	117246774	117246774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctggaggcctaggccctGctctgcaccagttccctgct	6	9	10	16	0	1	0	0	0	1	0	2	1	2	1	5	3	4	4	5	3	2	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:117246774G>A	ENST00000332958.2	+	16	1853	c.1837G>A	c.(1837-1839)Gct>Act	p.A613T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	613					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCTAGGCCCTGCTCTGCACCA	0.547													38	81					0	0	0	0	A	117246774	G	A	117246774	3	1	414	1	0	0	0	0	1	0	0	0	13349	1319	46	4	1899	4	RFX6	6	117246774	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	160072	117246774	53868293	55	82541											
LAMA2	3908	broad.mit.edu	37	chr6	129637001	129637001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	taatcctcaagtgatcattcGaggtgggacacctactcatg	11	11	9	10	1	3	1	3	1	0	0	5	3	4	2	2	2	1	0	2	2	3	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:129637001G>C	ENST00000421865.2	+	26	3879	c.3830G>C	c.(3829-3831)cGa>cCa	p.R1277P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1277	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGATCATTCGAGGTGGGACA	0.443													141	71					0	0	0	0	C	129637001	G	C	129637001	3	2	414	1	0	0	0	0	1	0	0	0	8659	1058	37	3	3932	3	LAMA2	6	129637001	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	12390227	129637001	41478066	56	82542											
TMEM181	57583	broad.mit.edu	37	chr6	159050835	159050835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctttgtatattctccatcGaagaatgccctctatggtaa	10	14	7	10	1	2	1	0	0	2	1	4	2	2	1	3	1	1	2	3	1	6	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:159050835G>A	ENST00000367090.3	+	15	1688	c.1677G>A	c.(1675-1677)tcG>tcA	p.S559S		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	559					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ATTCTCCATCGAAGAATGCCC	0.542													41	42					0	0	0	0	A	159050835	G	A	159050835	2	1	414	1	0	0	0	0	0	0	0	1	16194	1045	37	1		1	TMEM181	6	159050835	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	29413834	159050835	12064232	57	82543											
AGPAT4	56895	broad.mit.edu	37	chr6	161575210	161575210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggtagtcccggaggtGctgcaaactggtggcaaccg	7	7	16	11	3	0	0	0	0	0	0	2	1	1	1	2	6	4	4	2	6	3	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:161575210G>A	ENST00000320285.4	-	4	693	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	AGPAT4_ENST00000366911.5_Missense_Mutation_p.A104V|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.H99Y|AGPAT4_ENST00000366908.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	161					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCCCGGAGGTGCTGCAAACTG	0.567													24	38					0	0	0	0	A	161575210	G	A	161575210	3	1	414	1	0	0	0	0	1	0	0	0	389	1319	46	4	679	4	AGPAT4	6	161575210	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2524375	161575210	9539857	58	82544											
GPR31	2853	broad.mit.edu	37	chr6	167570533	167570533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcccgtgacatccgaggTatgagccactgcacaaaggg	10	6	13	12	2	0	2	0	2	0	0	1	3	1	2	3	2	3	3	3	2	2	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:167570533T>C	ENST00000366834.1	-	1	1284	c.787A>G	c.(787-789)Acc>Gcc	p.T263A		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	263						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACATCCGAGGTATGAGCCACT	0.587													32	43					0	0	0	0	C	167570533	T	C	167570533	3	2	414	1	0	0	0	0	1	0	0	0	6736	1638	57	5	175	5	GPR31	6	167570533	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	5995323	167570533	3544534	59	82545											
THBS2	7058	broad.mit.edu	37	chr6	169640559	169640559	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaccttgcaggtacaCgtggtgcagctgtccaccac	7	8	11	15	1	1	0	1	0	0	0	2	0	2	0	4	3	4	4	4	3	1	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:169640559C>G	ENST00000366787.3	-	7	1269	c.1020G>C	c.(1018-1020)acG>acC	p.T340T		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	340	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.T340T(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGCAGGTACACGTGGTGCAGC	0.572													21	32					0	0	0	0	G	169640559	C	G	169640559	2	3	414	1	0	0	0	0	0	0	0	1	15948	523	19	3		3	THBS2	6	169640559	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	2070026	169640559	1474508	60	82546											
RADIL	55698	broad.mit.edu	37	chr7	4839063	4839063	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtttccacgtcggacttCgcgaccaggaaccgcatctt	7	10	10	14	5	1	0	0	0	1	0	4	3	2	2	3	2	1	3	3	2	1	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:4839063C>T	ENST00000399583.3	-	15	3361	c.3174G>A	c.(3172-3174)gcG>gcA	p.A1058A	RADIL_ENST00000538469.1_Silent_p.A818A|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1058	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTCGGACTTCGCGACCAGGA	0.647													124	48					0	0	0	0	T	4839063	C	T	4839063	2	4	414	1	0	0	0	0	0	0	0	1	13079	871	31	1		1	RADIL	7	4839063	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08		4839063	154299600	61	82547											
MEOX2	4223	broad.mit.edu	37	chr7	15652017	15652017	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcctctgtttatatcataAgtgcgcatgctctgagctgt	7	15	10	9	1	3	1	1	1	2	0	4	1	4	1	1	1	3	4	1	1	3	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:15652017A>G	ENST00000262041.5	-	3	1319	c.910T>C	c.(910-912)Tta>Cta	p.L304L		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	304					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTATATCATAAGTGCGCATGC	0.478													9	204					0	0	0	0	G	15652017	A	G	15652017	2	3	414	1	0	0	0	0	0	0	0	1	9543	69	3	5		5	MEOX2	7	15652017	Silent	SNP	A	TCGA-HD-7229-01A-11D-2012-08	10812954	15652017	143486646	62	82548											
DNAH11	8701	broad.mit.edu	37	chr7	21639563	21639563	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaattgaaaccggcaccGttttttcaagcacaaatgat	16	10	6	9	2	1	2	1	2	0	0	1	2	1	2	2	1	3	3	2	1	5	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:21639563G>T	ENST00000328843.6	+	15	2857	c.2826G>T	c.(2824-2826)ccG>ccT	p.P942P	DNAH11_ENST00000409508.3_Silent_p.P942P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	942	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACCGGCACCGTTTTTTCAAG	0.408									Kartagener syndrome				45	19					1.15505e-17	2.24142e-17	1	0	T	21639563	G	T	21639563	2	4	414	1	0	0	0	0	0	0	0	1	4636	1132	40	3		3	DNAH11	7	21639563	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	5987546	21639563	137499100	63	82549											
PCLO	27445	broad.mit.edu	37	chr7	82583946	82583946	+	Frame_Shift_Del	DEL	G	G	-																															acgctcctgagagaacacttGatgtcaaagaggcatctggc																										TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:82583946delG	ENST00000423517.2	-	5	6660	c.6323delC	c.(6322-6324)tafs	p.S2109fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.S2109fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2040					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGAACACTTGATGTCAAAGA	0.453													10	36	---	---	---	---					-	82583946	G	-	82583946	7	5	414	1	0	1	0	1	0	0	0	0	11654	1294	45	0	9206	0	PCLO	7	82583946	Frame_Shift_Del	DEL	G	TCGA-HD-7229-01A-11D-2012-08	60944383	82583946	76554717	64	82550											
AKAP9	10142	broad.mit.edu	37	chr7	91630769	91630769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcaaaaggaaaaactcaAggaagaactaggactaattt	19	8	7	7	0	2	1	2	0	1	1	3	4	2	4	0	3	2	0	0	3	9	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:91630769A>T	ENST00000359028.2	+	9	1799	c.1574A>T	c.(1573-1575)aAg>aTg	p.K525M	AKAP9_ENST00000356239.3_Missense_Mutation_p.K513M|AKAP9_ENST00000358100.2_Missense_Mutation_p.K525M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	525	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAAAACTCAAGGAAGAACTA	0.323			T	BRAF	papillary thyroid								18	51					0	0	0	0	T	91630769	A	T	91630769	3	4	414	1	0	0	0	0	1	0	0	0	459	72	3	5	1568	5	AKAP9	7	91630769	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	9046823	91630769	67507894	65	82551											
METTL2B	55798	broad.mit.edu	37	chr7	128119472	128119472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaacataaaacacagacaCctcctgtggaggagaatgta	16	8	9	8	0	0	3	0	1	0	2	1	5	1	4	2	2	2	1	2	2	5	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:128119472C>T	ENST00000480046.1	+	2	383	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL2B_ENST00000262432.8_Missense_Mutation_p.P155S			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	155							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AACACAGACACCTCCTGTGGA	0.423													9	98					0	0	0	0	T	128119472	C	T	128119472	3	4	414	1	0	0	0	0	1	0	0	0	9569	507	18	4	473	4	METTL2B	7	128119472	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	36488703	128119472	31019191	66	82552											
MEST	4232	broad.mit.edu	37	chr7	130139737	130139737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctttcctgagactcaccGtccactccttctccaaaagg	9	12	5	15	1	3	1	1	1	2	1	7	2	6	1	5	1	0	0	5	1	3	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:130139737G>A	ENST00000223215.4	+	7	778	c.557G>A	c.(556-558)cGt>cAt	p.R186H	MEST_ENST00000378576.4_Missense_Mutation_p.R177H|MEST_ENST00000393187.1_Missense_Mutation_p.R177H|MEST_ENST00000416162.2_Missense_Mutation_p.R177H|MEST_ENST00000341441.4_Missense_Mutation_p.R177H|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.R186H	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	186					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GAGACTCACCGTCCACTCCTT	0.388													16	52					0	0	0	0	A	130139737	G	A	130139737	3	1	414	1	0	0	0	0	1	0	0	0	9553	1145	40	1	583	1	MEST	7	130139737	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2020265	130139737	28998926	67	82553											
KIAA1549	57670	broad.mit.edu	37	chr7	138603742	138603742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgttgtgttctgccagccCgatgtcacttcttcatcttg	4	15	9	13	3	5	0	2	0	3	0	5	1	5	0	2	0	2	2	2	0	0	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:138603742C>T	ENST00000440172.1	-	2	678	c.630G>A	c.(628-630)tcG>tcA	p.S210S	KIAA1549_ENST00000242365.4_Silent_p.S160S|KIAA1549_ENST00000422774.1_Silent_p.S210S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	210						integral to membrane		p.S160S(1)|p.S210S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTGCCAGCCCGATGTCACTT	0.522			O	BRAF	pilocytic astrocytoma								6	129					0	0	0	0	T	138603742	C	T	138603742	2	4	414	1	0	0	0	0	0	0	0	1	8295	639	23	1		1	KIAA1549	7	138603742	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	8464005	138603742	20534921	68	82554											
GIMAP1	170575	broad.mit.edu	37	chr7	150417387	150417387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagacagatcctggctgtGaggagagaggtcactgctac	11	7	13	10	0	1	4	1	1	0	3	2	6	2	5	2	3	2	2	2	3	2	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:150417387G>A	ENST00000307194.5	+	3	435	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGGCTGTGAGGAGAGAGG	0.647													22	45					0	0	0	0	A	150417387	G	A	150417387	3	1	414	1	0	0	0	0	1	0	0	0	6430	1291	45	2	301	2	GIMAP1	7	150417387	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	11813645	150417387	8721276	69	82555											
NUB1	51667	broad.mit.edu	37	chr7	151073852	151073852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgagctgccgctgtcgccaGaagactctttgtccccgcca	6	8	10	17	4	1	2	0	0	1	2	3	3	2	2	6	0	2	2	6	0	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:151073852G>C	ENST00000568733.1	+	14	1762	c.1696G>C	c.(1696-1698)Gaa>Caa	p.E566Q	WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000355851.4_Missense_Mutation_p.E542Q|NUB1_ENST00000566856.1_Missense_Mutation_p.E528Q|NUB1_ENST00000413040.2_Missense_Mutation_p.E552Q			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	542	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCTGTCGCCAGAAGACTCTTT	0.612													2	7					0	0	0	0	C	151073852	G	C	151073852	3	2	414	1	0	0	0	0	1	0	0	0	10785	943	33	2	1632	2	NUB1	7	151073852	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	656465	151073852	8064811	70	82556											
PTDSS1	9791	broad.mit.edu	37	chr8	97321825	97321825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacacacagtgcaagcgcGtaggaacacaatgctgggtg	12	5	13	11	3	0	0	0	0	0	0	0	2	0	1	1	2	4	3	1	2	4	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:97321825G>C	ENST00000517309.1	+	9	1374	c.1048G>C	c.(1048-1050)Gta>Cta	p.V350L	PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147L|PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204L	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433													6	48					0	0	0	0	C	97321825	G	C	97321825	3	2	414	1	0	0	0	0	1	0	0	0	12815	1145	40	3	1082	3	PTDSS1	8	97321825	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		97321825	49042197	71	82557											
FAM83A	84985	broad.mit.edu	37	chr8	124204207	124204207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatctctgacagtcacctCaaggtaggggccccaatgag	11	7	11	12	0	3	3	2	2	1	1	4	3	3	3	3	3	0	1	3	3	3	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:124204207C>T	ENST00000518448.1	+	3	2659	c.645C>T	c.(643-645)ctC>ctT	p.L215L	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Silent_p.L215L|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000318462.6_Silent_p.L215L|FAM83A_ENST00000276699.6_Silent_p.L215L			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	215										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGTCACCTCAAGGTAGGGG	0.488													38	174					0	0	0	0	T	124204207	C	T	124204207	2	4	414	1	0	0	0	0	0	0	0	1	5679	813	29	2		2	FAM83A	8	124204207	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	26882382	124204207	22159815	72	82558											
FAM135B	51059	broad.mit.edu	37	chr8	139163587	139163587	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgggcacagatgagAaagggagacaggtggcagtg	11	7	16	7	0	1	3	0	1	1	3	2	5	1	3	1	4	0	2	1	4	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:139163587A>T	ENST00000395297.1	-	13	3301	c.3131T>A	c.(3130-3132)tTc>tAc	p.F1044Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1044								p.F1044C(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)			CACAGATGAGAAAGGGAGACA	0.532										HNSCC(54;0.14)			34	46					0	0	0	0	T	139163587	A	T	139163587	3	4	414	1	0	0	0	0	1	0	0	0	5490	246	9	5	1121	5	FAM135B	8	139163587	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	14959380	139163587	7200435	73	82559											
PLEC	5339	broad.mit.edu	37	chr8	144996309	144996309	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgccctcctcggcctcAtgctgccgccgccgcgcctc	2	6	10	23	7	1	0	1	0	0	0	4	0	2	0	7	1	2	2	7	1	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:144996309A>G	ENST00000322810.4	-	32	8260	c.8091T>C	c.(8089-8091)caT>caC	p.H2697H	PLEC_ENST00000356346.3_Silent_p.H2546H|PLEC_ENST00000357649.2_Silent_p.H2564H|PLEC_ENST00000345136.3_Silent_p.H2560H|PLEC_ENST00000527096.1_Silent_p.H2583H|PLEC_ENST00000398774.2_Silent_p.H2528H|PLEC_ENST00000354589.3_Silent_p.H2560H|PLEC_ENST00000436759.2_Silent_p.H2587H|PLEC_ENST00000354958.2_Silent_p.H2538H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2697	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCGGCCTCATGCTGCCGCC	0.706													7	3					0	0	0	0	G	144996309	A	G	144996309	2	3	414	1	0	0	0	0	0	0	0	1	12124	214	8	5		5	PLEC	8	144996309	Silent	SNP	A	TCGA-HD-7229-01A-11D-2012-08	5832722	144996309	1367713	74	82560											
DCAF12	25853	broad.mit.edu	37	chr9	34125196	34125196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctgtagcctgacttccCggttcttcaagtagtatact	8	15	7	11	1	3	1	1	1	2	0	4	1	4	1	2	1	2	4	2	1	5	8			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:34125196C>G	ENST00000361264.4	-	2	499	c.158G>C	c.(157-159)cGg>cCg	p.R53P	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	53						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTGACTTCCCGGTTCTTCAA	0.453													16	42					0	0	0	0	G	34125196	C	G	34125196	3	3	414	1	0	0	0	0	1	0	0	0	4296	652	23	3	1235	3	DCAF12	9	34125196	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		34125196	107088235	75	82561											
OR13C4	138804	broad.mit.edu	37	chr9	107288722	107288722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaggttttgcatacataaAgaagatggtaccataaaata	17	12	7	5	0	0	2	0	0	0	2	0	2	0	2	1	2	3	3	1	2	9	8			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:107288722A>G	ENST00000277216.3	-	1	768	c.769T>C	c.(769-771)Ttt>Ctt	p.F257L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCATACATAAAGAAGATGGTA	0.468													73	42					0	0	0	0	G	107288722	A	G	107288722	3	3	414	1	0	0	0	0	1	0	0	0	11007	72	3	5	189	5	OR13C4	9	107288722	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	73163526	107288722	33924709	76	82562											
WDR34	89891	broad.mit.edu	37	chr9	131397505	131397505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactcagcacctggaagcGgtggctgtgcccaggctcgg	7	6	14	14	2	1	0	1	0	0	0	2	1	1	1	2	5	3	3	2	5	1	0	rs11541003		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:131397505G>A	ENST00000372715.2	-	6	907	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	283						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCTGGAAGCGGTGGCTGTGC	0.652											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	12					0	0	0	0	A	131397505	G	A	131397505	3	1	414	1	0	0	0	0	1	0	0	0	17384	1116	39	1	779	1	WDR34	9	131397505	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	24108783	131397505	9815926	77	82563											
RET	5979	broad.mit.edu	37	chr10	43604533	43604533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgcaccatgcagctggCggtgctggtcaatgactcag	9	7	13	12	2	2	1	2	1	0	0	2	2	2	1	2	3	4	4	2	3	2	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr10:43604533C>T	ENST00000355710.3	+	6	1350	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	RET_ENST00000340058.5_Missense_Mutation_p.A373V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	373					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.A373V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATGCAGCTGGCGGTGCTGGTC	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				16	36					0	0	0	0	T	43604533	C	T	43604533	3	4	414	1	0	0	0	0	1	0	0	0	13317	768	27	1	1140	1	RET	10	43604533	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		43604533	91930214	78	82564											
CCAR1	55749	broad.mit.edu	37	chr10	70546361	70546361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgttaatggcttttgtttAttttgatcaaagtcattgtg	8	21	8	4	0	3	1	2	1	1	0	3	1	3	1	0	1	0	3	0	1	3	8			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr10:70546361A>G	ENST00000265872.6	+	21	2911	c.2792A>G	c.(2791-2793)tAt>tGt	p.Y931C	CCAR1_ENST00000543719.1_Missense_Mutation_p.Y916C|CCAR1_ENST00000535016.1_Missense_Mutation_p.Y916C	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	931					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCTTTTGTTTATTTTGATCAA	0.313													16	31					0	0	0	0	G	70546361	A	G	70546361	3	3	414	1	0	0	0	0	1	0	0	0	2755	449	16	5	2870	5	CCAR1	10	70546361	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	26941828	70546361	64988386	79	82565											
PKP3	11187	broad.mit.edu	37	chr11	399010	399010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccgcagccttcaggccGtgcctaggctggtgaagctc	6	7	14	14	2	1	1	1	1	0	0	2	1	1	1	4	4	3	3	4	4	2	2	rs141688536	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:399010G>A	ENST00000331563.2	+	5	1163	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	363					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		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)		CCTTCAGGCCGTGCCTAGGCT	0.602													11	81					0	0	0	0	A	399010	G	A	399010	3	1	414	1	0	0	0	0	1	0	0	0	12058	1145	40	1	1105	1	PKP3	11	399010	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		399010	134607506	80	82566											
LRRC56	115399	broad.mit.edu	37	chr11	552187	552187	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagacagctctgactTcctggccttggctgggctca	5	10	11	15	0	2	2	1	1	1	1	3	2	3	2	3	3	2	4	3	3	0	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:552187T>A	ENST00000270115.7	+	12	1636	c.1136T>A	c.(1135-1137)tTc>tAc	p.F379Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	379										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCTCTGACTTCCTGGCCTTG	0.672													17	56					0	0	0	0	A	552187	T	A	552187	3	1	414	1	0	0	0	0	1	0	0	0	9076	1783	62	5	1170	5	LRRC56	11	552187	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	153177	552187	134454329	81	82567											
PHRF1	57661	broad.mit.edu	37	chr11	611692	611692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccaacctggtgaaggCgtacgtggacaagtacaggc	10	6	16	9	2	0	1	0	1	0	0	0	2	0	2	2	6	3	2	2	6	5	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:611692C>T	ENST00000264555.5	+	18	4993	c.4865C>T	c.(4864-4866)gCg>gTg	p.A1622V	PHRF1_ENST00000416188.2_Missense_Mutation_p.A1621V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A1620V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A1618V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1622							RNA polymerase binding|zinc ion binding	p.A1622G(1)|p.A1627G(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGGTGAAGGCGTACGTGGAC	0.602													6	48					0	0	0	0	T	611692	C	T	611692	3	4	414	1	0	0	0	0	1	0	0	0	11933	768	27	1	4928	1	PHRF1	11	611692	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	59505	611692	134394824	82	82568											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1618959	1618959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcctcagatcttacaCtggcagcacacagggacaca	13	5	9	14	0	2	2	1	0	1	2	2	3	2	3	2	2	3	2	2	2	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:1618959C>A	ENST00000412090.1	-	1	565	c.522G>T	c.(520-522)caG>caT	p.Q174H	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	174						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGATCTTACACTGGCAGCACA	0.567													28	126					1.74197e-06	3.17446e-06	1	0	A	1618959	C	A	1618959	3	1	414	1	0	0	0	0	1	0	0	0	8614	564	20	4	15	4	KRTAP5-2	11	1618959	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	1007267	1618959	133387557	83	82569											
DCHS1	8642	broad.mit.edu	37	chr11	6654065	6654065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcttcaggtgcaggaaagGcaggggagttgtcattcaca	10	10	14	7	0	4	0	3	0	1	0	4	2	4	2	0	5	1	3	0	5	1	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:6654065G>A	ENST00000299441.3	-	6	3089	c.2678C>T	c.(2677-2679)gCc>gTc	p.A893V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	893	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGGAAAGGCAGGGGAGTT	0.582													4	30					0	0	0	0	A	6654065	G	A	6654065	3	1	414	1	0	0	0	0	1	0	0	0	4319	1203	42	4	7282	4	DCHS1	11	6654065	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	5035106	6654065	128352451	84	82570											
SWAP70	23075	broad.mit.edu	37	chr11	9769601	9769601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcaagcacttgagcagtacGaggtaatgagacttggccct	12	8	12	9	1	0	2	0	2	0	1	0	4	0	2	1	2	4	5	1	2	3	4	rs141564084	by1000genomes	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:9769601G>C	ENST00000318950.6	+	10	1655	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	SWAP70_ENST00000447399.2_Missense_Mutation_p.E460Q	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	518						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGAGCAGTACGAGGTAATGAG	0.438													15	44					0	0	0	0	C	9769601	G	C	9769601	3	2	414	1	0	0	0	0	1	0	0	0	15515	1059	37	3	1590	3	SWAP70	11	9769601	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	3115536	9769601	125236915	85	82571											
SAAL1	113174	broad.mit.edu	37	chr11	18113850	18113850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaacaggccatattacCtaaaattcccacacagattt	15	10	5	11	0	0	1	0	0	0	1	1	2	1	2	3	2	2	0	3	2	5	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:18113850C>A	ENST00000524803.1	-	4	404	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C	SAAL1_ENST00000300013.4_Missense_Mutation_p.G119C|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.G119C			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	119					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GCCATATTACCTAAAATTCCC	0.318													11	23					7.93312e-07	1.45306e-06	1	0	A	18113850	C	A	18113850	3	1	414	1	0	0	0	0	1	0	0	0	13886	681	24	4	1105	4	SAAL1	11	18113850	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	8344249	18113850	116892666	86	82572											
GYLTL1B	120071	broad.mit.edu	37	chr11	45950253	45950253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagcctggacatctccCgcttccgctccagccccacc	6	7	6	22	2	1	0	0	0	1	0	5	1	4	1	8	1	2	2	8	1	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:45950253C>T	ENST00000531526.1	+	14	2134	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R675C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R644C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R644C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R675C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	675					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGACATCTCCCGCTTCCGCTC	0.632													29	83					0	0	0	0	T	45950253	C	T	45950253	3	4	414	1	0	0	0	0	1	0	0	0	6957	652	23	1	2073	1	GYLTL1B	11	45950253	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	27836403	45950253	89056263	87	82573											
CKAP5	9793	broad.mit.edu	37	chr11	46765612	46765612	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctctccagtctttttttCaagtcgtctatgttagctgt	6	20	6	9	1	4	0	1	0	3	0	7	0	5	0	1	0	1	2	1	0	3	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:46765612C>G	ENST00000529230.1	-	44	6106	c.6060G>C	c.(6058-6060)ttG>ttC	p.L2020F	CKAP5_ENST00000312055.5_Missense_Mutation_p.L1960F|CKAP5_ENST00000415402.1_Missense_Mutation_p.L2027F|CKAP5_ENST00000354558.3_Missense_Mutation_p.L1960F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	2020					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTCTTTTTTTCAAGTCGTCTA	0.493													24	65					0	0	0	0	G	46765612	C	G	46765612	3	3	414	1	0	0	0	0	1	0	0	0	3475	825	29	2	42	2	CKAP5	11	46765612	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	815359	46765612	88240904	88	82574											
OR4C15	81309	broad.mit.edu	37	chr11	55322294	55322294	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattgtcctcacagccaTggcctatgatcgttatgtgg	7	13	12	9	1	1	2	1	2	0	0	3	2	2	2	3	3	1	1	3	3	2	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:55322294T>A	ENST00000314644.2	+	1	512	c.512T>A	c.(511-513)aTg>aAg	p.M171K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTCACAGCCATGGCCTATGAT	0.498										HNSCC(20;0.049)			77	76					0	0	0	0	A	55322294	T	A	55322294	3	1	414	1	0	0	0	0	1	0	0	0	11119	1464	51	5	514	5	OR4C15	11	55322294	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	8556682	55322294	79684222	89	82575											
OR9G4	283189	broad.mit.edu	37	chr11	56511135	56511135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttcctgacaaggttatCaaatagagcatcagaaacac	16	10	7	8	0	2	3	2	1	0	2	3	3	3	3	1	1	2	3	1	1	5	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:56511135C>T	ENST00000302957.3	-	1	152	c.153G>A	c.(151-153)ttG>ttA	p.L51L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAAGGTTATCAAATAGAGCA	0.413													15	48					0	0	0	0	T	56511135	C	T	56511135	2	4	414	1	0	0	0	0	0	0	0	1	11322	825	29	2		2	OR9G4	11	56511135	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	1188841	56511135	78495381	90	82576											
SLC43A1	8501	broad.mit.edu	37	chr11	57259321	57259321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggagcagaggctcttgcGtaaggggacagaccctgggg	8	5	20	8	1	1	2	0	0	1	2	1	4	1	4	1	7	2	3	1	7	1	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57259321G>A	ENST00000278426.3	-	9	1241	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.R296C	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	296					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGCTCTTGCGTAAGGGGACA	0.607											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	46					0	0	0	0	A	57259321	G	A	57259321	3	1	414	1	0	0	0	0	1	0	0	0	14720	1145	40	1	821	1	SLC43A1	11	57259321	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	748186	57259321	77747195	91	82577											
SMTNL1	219537	broad.mit.edu	37	chr11	57310254	57310254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggccatcaatgaggggcctCccactgagtcaggaaagcag	12	5	13	11	0	2	2	2	2	0	0	3	3	3	3	3	4	1	1	3	4	2	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57310254C>T	ENST00000457912.1	+	2	193	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	SMTNL1_ENST00000527972.1_Missense_Mutation_p.P47S|SMTNL1_ENST00000399154.2_Missense_Mutation_p.P47S			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	47										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGAGGGGCCTCCCACTGAGTC	0.577													10	17					0	0	0	0	T	57310254	C	T	57310254	3	4	414	1	0	0	0	0	1	0	0	0	14903	855	30	2	199	2	SMTNL1	11	57310254	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	50933	57310254	77696262	92	82578											
OR1S1	219959	broad.mit.edu	37	chr11	57982857	57982864	+	Frame_Shift_Del	DEL	TTGTGGGT	TTGTGGGT	-																															caatgagcttgtgttgtttaTtgtgggtttatcagttatca																										TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57982857_57982864delTTGTGGGT	ENST00000309433.6	+	1	641_648	c.641_648delTTGTGGGT	c.(640-648)afs	p.IVG214fs		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GTGTTGTTTATTGTGGGTTTATCAGTTA	0.438													21	106	---	---	---	---					-	57982864	TTGTGGGT	-	57982857	7	5	414	1	0	1	0	1	0	0	0	0	11043	1493	52	0	643	0	OR1S1	11	57982857	Frame_Shift_Del	DEL	TTGTGGGT	TCGA-HD-7229-01A-11D-2012-08	672603	57982857	77023659	93	82579											
OR5B3	441608	broad.mit.edu	37	chr11	58170743	58170743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagacaggaatcccagaatAtcaatacaataattcccagg	17	7	8	9	0	1	2	1	0	0	2	3	4	3	3	2	3	1	0	2	3	7	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:58170743A>G	ENST00000309403.2	-	1	139	c.140T>C	c.(139-141)aTa>aCa	p.I47T		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATCCCAGAATATCAATACAAT	0.423													3	101					0	0	0	0	G	58170743	A	G	58170743	3	3	414	1	0	0	0	0	1	0	0	0	11223	449	16	5	806	5	OR5B3	11	58170743	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	187886	58170743	76835773	94	82580											
PLCB3	5331	broad.mit.edu	37	chr11	64033975	64033975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgtgcagggaactgaCggagattaaccgtcggcaca	10	6	13	12	4	0	2	0	1	0	1	2	4	1	3	2	3	3	3	2	3	2	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:64033975C>G	ENST00000540288.1	+	29	3468	c.3365C>G	c.(3364-3366)aCg>aGg	p.T1122R	PLCB3_ENST00000325234.5_Missense_Mutation_p.T1055R|PLCB3_ENST00000279230.6_Missense_Mutation_p.T1122R	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGAACTGACGGAGATTAAC	0.652													8	49					0	0	0	0	G	64033975	C	G	64033975	3	3	414	1	0	0	0	0	1	0	0	0	12101	536	19	3	3479	3	PLCB3	11	64033975	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	5863232	64033975	70972541	95	82581											
CCDC88B	283234	broad.mit.edu	37	chr11	64109596	64109596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaaggctcagctgcggcGtctgcggcaggagctgtgag	6	6	17	12	4	2	1	1	1	1	0	2	2	2	2	1	4	4	4	1	4	1	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:64109596G>C	ENST00000356786.5	+	8	850	c.806G>C	c.(805-807)cGt>cCt	p.R269P	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	269					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCTGCGGCGTCTGCGGCAG	0.682													11	25					0	0	0	0	C	64109596	G	C	64109596	3	2	414	1	0	0	0	0	1	0	0	0	2891	1145	40	3	836	3	CCDC88B	11	64109596	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	75621	64109596	70896920	96	82582											
KAT5	10524	broad.mit.edu	37	chr11	65486406	65486406	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccactctgcagtacctcaAtctcatcaactactacaagg	12	10	4	15	0	4	0	3	0	2	0	6	0	5	0	2	1	5	2	2	1	6	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65486406A>C	ENST00000341318.4	+	12	1721	c.1487A>C	c.(1486-1488)aAt>aCt	p.N496T	KAT5_ENST00000377046.3_Missense_Mutation_p.N463T|KAT5_ENST00000534650.1_Missense_Mutation_p.N252T|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.N444T|KAT5_ENST00000352980.4_Missense_Mutation_p.N411T	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	463					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAGTACCTCAATCTCATCAAC	0.532													11	36					0	0	0	0	C	65486406	A	C	65486406	3	2	414	1	0	0	0	0	1	0	0	0	8036	101	4	5	1533	5	KAT5	11	65486406	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	1376810	65486406	69520110	97	82583											
ADRBK1	156	broad.mit.edu	37	chr11	67048572	67048572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcccctcagctgaccatGaatgacttcagcgtgcatcg	8	9	10	14	2	2	3	2	3	0	0	3	3	2	3	3	0	4	3	3	0	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:67048572G>C	ENST00000308595.5	+	8	854	c.564G>C	c.(562-564)atG>atC	p.M188I	ADRBK1_ENST00000526285.1_Missense_Mutation_p.M188I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	188	N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCTGACCATGAATGACTTCA	0.662													22	64					0	0	0	0	C	67048572	G	C	67048572	3	2	414	1	0	0	0	0	1	0	0	0	343	1290	45	2	594	2	ADRBK1	11	67048572	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	1562166	67048572	67957944	98	82584											
C11orf30	56946	broad.mit.edu	37	chr11	76255467	76255467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaacttagccagcccccGctggaacagactcagctgca	12	5	9	15	1	1	2	1	0	0	2	1	3	1	3	3	1	6	3	3	1	3	1	rs149047897		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:76255467G>A	ENST00000529032.1	+	18	2874	c.2874G>A	c.(2872-2874)ccG>ccA	p.P958P	C11orf30_ENST00000343878.3_Silent_p.P958P|C11orf30_ENST00000524767.1_Silent_p.P973P|C11orf30_ENST00000533248.1_Silent_p.P867P|C11orf30_ENST00000524490.1_Silent_p.P860P|C11orf30_ENST00000525038.1_Silent_p.P959P|C11orf30_ENST00000525919.1_Silent_p.P959P|C11orf30_ENST00000334736.3_Silent_p.P958P			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	958	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCCAGCCCCCGCTGGAACAGA	0.517													24	80					0	0	0	0	A	76255467	G	A	76255467	2	1	414	1	0	0	0	0	0	0	0	1	1647	1074	38	1		1	C11orf30	11	76255467	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	9206895	76255467	58751049	99	82585											
ME3	10873	broad.mit.edu	37	chr11	86270821	86270821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagggcgggattaggccGtggattccaagctgcagcct	9	7	15	10	2	0	0	0	0	0	0	1	2	1	2	3	4	4	3	3	4	3	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:86270821G>C	ENST00000543262.1	-	3	554	c.228C>G	c.(226-228)caC>caG	p.H76Q	ME3_ENST00000393324.3_Missense_Mutation_p.H76Q|ME3_ENST00000359636.2_Missense_Mutation_p.H76Q|ME3_ENST00000323418.6_Missense_Mutation_p.H14Q|RP11-317J19.1_ENST00000524610.1_RNA	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	76					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GGATTAGGCCGTGGATTCCAA	0.522													28	106					0	0	0	0	C	86270821	G	C	86270821	3	2	414	1	0	0	0	0	1	0	0	0	9488	1136	40	3	1638	3	ME3	11	86270821	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	10015354	86270821	48735695	100	82586											
MTMR2	8898	broad.mit.edu	37	chr11	95569429	95569429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccatagagaggattagtGaagtcttccagctggctgtt	9	12	11	9	0	1	2	0	1	1	1	3	4	3	3	2	2	1	3	2	2	3	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:95569429G>A	ENST00000393223.3	-	16	2099	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	MTMR2_ENST00000346299.5_Silent_p.F551F|MTMR2_ENST00000409459.1_Silent_p.F479F|MTMR2_ENST00000352297.7_Silent_p.F479F	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	551	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGGATTAGTGAAGTCTTCCA	0.443													16	106					0	0	0	0	A	95569429	G	A	95569429	2	1	414	1	0	0	0	0	0	0	0	1	10014	1281	45	2		2	MTMR2	11	95569429	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	9298608	95569429	39437087	101	82587											
DDI1	414301	broad.mit.edu	37	chr11	103908268	103908268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccccgagagttttggaCaagtgacgatgctctacatt	10	10	11	10	2	1	2	0	1	1	1	1	5	1	3	2	2	2	2	2	2	2	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:103908268C>A	ENST00000302259.3	+	1	961	c.718C>A	c.(718-720)Caa>Aaa	p.Q240K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	240					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAGTTTTGGACAAGTGACGAT	0.478													33	179					5.8336e-16	1.11397e-15	1	0	A	103908268	C	A	103908268	3	1	414	1	0	0	0	0	1	0	0	0	4360	479	17	4	720	4	DDI1	11	103908268	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	8338839	103908268	31098248	102	82588											
GUCY1A2	2977	broad.mit.edu	37	chr11	106888551	106888551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgcctccggcgctgcaccctCctggccccggcagtggcagc	3	5	13	20	4	0	0	0	0	0	0	2	0	2	0	6	4	2	4	6	4	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:106888551C>G	ENST00000526355.1	-	1	699	c.231G>C	c.(229-231)agG>agC	p.R77S	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R77S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R77S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	77					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GCTGCACCCTCCTGGCCCcgg	0.806													4	9					0	0	0	0	G	106888551	C	G	106888551	3	3	414	1	0	0	0	0	1	0	0	0	6943	854	30	2	1999	2	GUCY1A2	11	106888551	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	2980283	106888551	28117965	103	82589											
DLAT	1737	broad.mit.edu	37	chr11	111899661	111899661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtagctcatatccccctCacatgcaggtgaggctcagc	8	9	10	14	0	3	1	3	1	0	0	4	1	4	1	2	3	3	4	2	3	2	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:111899661C>G	ENST00000280346.6	+	4	1311	c.652C>G	c.(652-654)Cac>Gac	p.H218D	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.H218D	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	218					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ATATCCCCCTCACATGCAGGT	0.517													33	87					0	0	0	0	G	111899661	C	G	111899661	3	3	414	1	0	0	0	0	1	0	0	0	4586	826	29	2	666	2	DLAT	11	111899661	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	5011110	111899661	23106855	104	82590											
HYOU1	10525	broad.mit.edu	37	chr11	118922623	118922623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacactgcccccatggCggctgcttcatctgcattga	6	11	10	14	1	2	1	1	1	1	0	2	1	2	1	2	3	4	4	2	3	1	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:118922623C>T	ENST00000404233.3	-	12	1370	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	HYOU1_ENST00000525859.1_Missense_Mutation_p.A416T|HYOU1_ENST00000529972.1_Missense_Mutation_p.A416T|HYOU1_ENST00000543287.1_Missense_Mutation_p.A329T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	416						endoplasmic reticulum lumen	ATP binding|protein binding	p.A416T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCCCCCATGGCGGCTGCTTCA	0.582													56	47					0	0	0	0	T	118922623	C	T	118922623	3	4	414	1	0	0	0	0	1	0	0	0	7523	768	27	1	1813	1	HYOU1	11	118922623	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	7022962	118922623	16083893	105	82591											
TUBA1B	10376	broad.mit.edu	37	chr12	49523424	49523424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccatcgggctggatgcCgtgttccaggcagtagagct	6	9	15	11	2	0	1	0	0	0	1	2	2	1	2	3	4	2	5	3	4	1	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:49523424C>G	ENST00000336023.5	-	2	179	c.85G>C	c.(85-87)Ggc>Cgc	p.G29R	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	29					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGCTGGATGCCGTGTTCCAGG	0.577													13	88					0	0	0	0	G	49523424	C	G	49523424	3	3	414	1	0	0	0	0	1	0	0	0	16840	652	23	3	1282	3	TUBA1B	12	49523424	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		49523424	84328471	106	82592											
KRT1	3848	broad.mit.edu	37	chr12	53069099	53069099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagagctcccgccgcCagagccccggccgccagagc	6	2	12	21	4	0	3	0	0	0	3	2	3	2	3	9	1	3	1	9	1	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:53069099C>A	ENST00000252244.3	-	9	1871	c.1813G>T	c.(1813-1815)Ggc>Tgc	p.G605C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	605	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCCCGCCGCCAGAGCCCCGg	0.692													7	53					2.23348e-06	4.0496e-06	1	0	A	53069099	C	A	53069099	3	1	414	1	0	0	0	0	1	0	0	0	8499	594	21	4	125	4	KRT1	12	53069099	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	3545675	53069099	80782796	107	82593											
KRT4	3851	broad.mit.edu	37	chr12	53208022	53208022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacaagcccatccttccCgcacccgttgagcatgtcac	8	8	8	17	2	1	1	1	1	0	0	3	1	3	1	4	1	2	4	4	1	1	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:53208022C>T	ENST00000293774.4	-	1	313	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	KRT4_ENST00000551956.1_5'UTR			B4DRS2	B4DRS2_HUMAN	keratin 4	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCATCCTTCCCGCACCCGTTG	0.527													33	76					0	0	0	0	T	53208022	C	T	53208022	3	4	414	1	0	0	0	0	1	0	0	0	8529	652	23	1	1777	1	KRT4	12	53208022	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	138923	53208022	80643873	108	82594											
PRIM1	5557	broad.mit.edu	37	chr12	57145981	57145981	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcctcgcctccatcaccTccaccgtagttgagccagcg	7	9	7	18	3	1	1	1	1	0	0	5	1	4	1	7	0	2	2	7	0	1	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:57145981T>A	ENST00000338193.6	-	1	138	c.103_splice	c.e1+1	p.G34_splice	HSD17B6_ENST00000555805.1_5'UTR|HSD17B6_ENST00000555159.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	34					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						CTCCATCACCTCCACCGTAGT	0.562													9	13					0	0	0	0	A	57145981	T	A	57145981	5	1	414	1	0	0	0	0	0	0	1	0	12570	1565	54	5	1212	5	PRIM1	12	57145981	Splice_Site	SNP	T	TCGA-HD-7229-01A-11D-2012-08	3937959	57145981	76705914	109	82595											
PPFIA2	8499	broad.mit.edu	37	chr12	81657084	81657084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtaatgtttctgaggacCcaggcatcatgctgattcca	9	12	10	10	0	2	2	1	2	1	0	3	3	3	3	2	3	1	4	2	3	1	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:81657084C>A	ENST00000550584.2	-	30	3936	c.3641G>T	c.(3640-3642)gGg>gTg	p.G1214V	PPFIA2_ENST00000443686.3_Missense_Mutation_p.G1109V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G1113V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1199V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1202V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1208V|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G400V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1193V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G750V|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G1214V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G1061V	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1113										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCTGAGGACCCAGGCATCAT	0.453													11	27					3.86212e-05	6.86387e-05	1	0	A	81657084	C	A	81657084	3	1	414	1	0	0	0	0	1	0	0	0	12381	623	22	4	140	4	PPFIA2	12	81657084	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	24511103	81657084	52194811	110	82596											
TMTC3	160418	broad.mit.edu	37	chr12	88560138	88560138	+	Frame_Shift_Del	DEL	C	C	-																															cagctgctgtaagcccaactCctacaaggcaactaactttt																										TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:88560138delC	ENST00000266712.6	+	7	1049	c.829delC	c.(829-831)ctfs	p.P277fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	277						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAGCCCAACTCCTACAAGGCA	0.348													17	50	---	---	---	---					-	88560138	C	-	88560138	7	5	414	1	0	1	0	1	0	0	0	0	16356	855	30	0	851	0	TMTC3	12	88560138	Frame_Shift_Del	DEL	C	TCGA-HD-7229-01A-11D-2012-08	6903054	88560138	45291757	111	82597											
SLC25A3	5250	broad.mit.edu	37	chr12	98987826	98987826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacatctgcagctggtgcacGatggtctcggggacctccgc	6	8	13	14	3	2	0	0	0	2	0	4	2	3	1	2	4	3	3	2	4	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:98987826G>C	ENST00000188376.5	+	1	424	c.70G>C	c.(70-72)Gat>Cat	p.D24H	SLC25A3_ENST00000401722.3_Missense_Mutation_p.D24H|SLC25A3_ENST00000552981.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000547534.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000228318.3_Missense_Mutation_p.D24H|SLC25A3_ENST00000551917.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000551265.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000549338.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000548847.1_Missense_Mutation_p.D24H	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	24					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			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)		GCTGGTGCACGATGGTCTCGG	0.687													9	22					0	0	0	0	C	98987826	G	C	98987826	3	2	414	1	0	0	0	0	1	0	0	0	14581	1058	37	3	72	3	SLC25A3	12	98987826	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	10427688	98987826	34864069	112	82598											
ATXN2	6311	broad.mit.edu	37	chr12	111993687	111993687	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacattaaagttactcacCgtagactgaggcagtccttt	12	12	8	9	1	1	2	1	1	0	1	2	2	2	2	2	1	2	4	2	1	5	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:111993687C>A	ENST00000377617.3	-	2	929	c.768_splice	c.e2+1	p.T256_splice	ATXN2_ENST00000389153.4_5'UTR|ATXN2_ENST00000550104.1_Splice_Site_p.T256_splice|ATXN2_ENST00000542287.2_5'UTR|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000549455.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	256					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGTTACTCACCGTAGACTGAG	0.328													6	19					3.59834e-05	6.45901e-05	1	0	A	111993687	C	A	111993687	5	1	414	1	0	0	0	0	0	0	1	0	1215	666	23	3	3269	3	ATXN2	12	111993687	Splice_Site	SNP	C	TCGA-HD-7229-01A-11D-2012-08	13005861	111993687	21858208	113	82599											
KSR2	283455	broad.mit.edu	37	chr12	117923489	117923489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatagagcgtccgtccctTacagaggctgaaaagcaaaa	15	6	11	9	2	0	3	0	1	0	2	2	4	2	4	2	2	3	2	2	2	7	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:117923489T>C	ENST00000425217.1	-	15	2194	c.2140A>G	c.(2140-2142)Aag>Gag	p.K714E	KSR2_ENST00000339824.5_Missense_Mutation_p.K743E|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	743	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGTCCCTTACAGAGGCTG	0.443													11	48					0	0	0	0	C	117923489	T	C	117923489	3	2	414	1	0	0	0	0	1	0	0	0	8635	1763	61	5	649	5	KSR2	12	117923489	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	5929802	117923489	15928406	114	82600											
POSTN	10631	broad.mit.edu	37	chr13	38164592	38164592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcctccctcagttttgAggcgtcagaatagcgctgcg	7	11	11	12	3	3	2	2	1	1	1	5	3	4	2	2	1	2	2	2	1	2	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:38164592A>G	ENST00000379747.4	-	4	475	c.358T>C	c.(358-360)Tca>Cca	p.S120P	POSTN_ENST00000541481.1_Missense_Mutation_p.S120P|POSTN_ENST00000379749.4_Missense_Mutation_p.S120P|POSTN_ENST00000379743.4_Missense_Mutation_p.S120P|POSTN_ENST00000379742.4_Missense_Mutation_p.S120P|POSTN_ENST00000541179.1_Missense_Mutation_p.S120P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	120	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCAGTTTTGAGGCGTCAGAA	0.448													8	26					0	0	0	0	G	38164592	A	G	38164592	3	3	414	1	0	0	0	0	1	0	0	0	12331	304	11	5	2232	5	POSTN	13	38164592	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08		38164592	77005286	115	82601											
PCDH8	5100	broad.mit.edu	37	chr13	53422221	53422221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctacctccacgtgcaccagCcggaactgctcctgcgagaa	9	7	9	16	3	1	1	0	0	1	1	3	3	3	2	5	1	6	2	5	1	3	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:53422221C>T	ENST00000377942.3	-	1	554	c.351G>A	c.(349-351)cgG>cgA	p.R117R	PCDH8_ENST00000338862.4_Silent_p.R117R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	117	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGTGCACCAGCCGGAACTGCT	0.706													26	47					0	0	0	0	T	53422221	C	T	53422221	2	4	414	1	0	0	0	0	0	0	0	1	11588	726	26	4		4	PCDH8	13	53422221	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	15257629	53422221	61747657	116	82602											
PCDH9	5101	broad.mit.edu	37	chr13	67801103	67801103	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcatctgtggcactaatAgttgttaagtataacccacg	11	14	7	9	1	3	0	1	0	2	0	3	0	3	0	1	1	1	4	1	1	5	7			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:67801103A>T	ENST00000544246.1	-	2	2161	c.1470T>A	c.(1468-1470)acT>acA	p.T490T	PCDH9_ENST00000328454.5_Silent_p.T490T|PCDH9_ENST00000456367.1_Silent_p.T490T|PCDH9_ENST00000377861.3_Silent_p.T490T|PCDH9_ENST00000377865.2_Silent_p.T490T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGCACTAATAGTTGTTAAGT	0.413													27	62					0	0	0	0	T	67801103	A	T	67801103	2	4	414	1	0	0	0	0	0	0	0	1	11589	407	15	5		5	PCDH9	13	67801103	Silent	SNP	A	TCGA-HD-7229-01A-11D-2012-08	14378882	67801103	47368775	117	82603											
FARP1	10160	broad.mit.edu	37	chr13	99061621	99061621	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagtcctcacctttccGagctgtctgtgaactcgcag	6	11	10	14	2	2	1	1	1	1	0	5	2	4	1	3	1	2	3	3	1	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:99061621G>T	ENST00000376586.2	+	14	1780	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	FARP1_ENST00000319562.6_Nonsense_Mutation_p.E482*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.E482*			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	482					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCACCTTTCCGAGCTGTCTGT	0.522													4	73					0.000602214	0.00105461	1	0	T	99061621	G	T	99061621	4	4	414	1	0	0	0	0	0	1	0	0	5721	1059	37	3	1717	3	FARP1	13	99061621	Nonsense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	31260518	99061621	16108257	118	82604											
COL4A1	1282	broad.mit.edu	37	chr13	110831718	110831718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgtgccaggaatgccGggaagacctggcaaaccttt	9	7	14	11	2	0	1	0	0	0	1	0	3	0	3	5	4	3	1	5	4	3	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:110831718G>A	ENST00000375820.4	-	30	2365	c.2244C>T	c.(2242-2244)ccC>ccT	p.P748P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	748	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGAATGCCGGGAAGACCTG	0.562													19	70					0	0	0	0	A	110831718	G	A	110831718	2	1	414	1	0	0	0	0	0	0	0	1	3719	1103	39	1		1	COL4A1	13	110831718	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	11770097	110831718	4338160	119	82605											
COL4A2	1284	broad.mit.edu	37	chr13	111090996	111090996	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggagaagaaggaatcaTgggctttcctggactgaggg	12	7	17	5	0	1	3	1	1	0	2	2	7	2	5	1	5	0	1	1	5	4	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:111090996T>A	ENST00000360467.5	+	15	1199	c.893T>A	c.(892-894)aTg>aAg	p.M298K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	298	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAGGAATCATGGGCTTTCCT	0.527													31	76					0	0	0	0	A	111090996	T	A	111090996	3	1	414	1	0	0	0	0	1	0	0	0	3720	1464	51	5	947	5	COL4A2	13	111090996	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	259278	111090996	4078882	120	82606											
TUBGCP3	10426	broad.mit.edu	37	chr13	113210456	113210456	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggcttgtgaagaaggctGatttgcagttaaagtccatg	11	12	13	5	0	0	3	0	2	0	1	1	3	1	3	1	2	1	4	1	2	4	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:113210456G>A	ENST00000261965.3	-	6	817	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.Q211*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	211					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAAGAAGGCTGATTTGCAGTT	0.493													18	42					0	0	0	0	A	113210456	G	A	113210456	4	1	414	1	0	0	0	0	0	1	0	0	16863	1299	45	2	2160	2	TUBGCP3	13	113210456	Nonsense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2119460	113210456	1959422	121	82607											
MTA1	9112	broad.mit.edu	37	chr14	105936520	105936520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccgccacctgcgcccGtcaacgacgagcccatcgtc	7	4	10	20	6	1	0	1	0	0	0	3	2	1	0	6	1	3	0	6	1	1	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr14:105936520G>A	ENST00000331320.7	+	21	2330	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	MTA1_ENST00000406191.1_Missense_Mutation_p.V694I|MTA1_ENST00000405646.1_Missense_Mutation_p.V689I|MTA1_ENST00000435036.2_Missense_Mutation_p.V246I|RP11-521B24.5_ENST00000552675.1_RNA	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	706					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCTGCGCCCGTCAACGACGA	0.761													10	22					0	0	0	0	A	105936520	G	A	105936520	3	1	414	1	0	0	0	0	1	0	0	0	9978	1145	40	1	2198	1	MTA1	14	105936520	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		105936520	1413020	122	82608											
GABRB3	2562	broad.mit.edu	37	chr15	26828523	26828523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctcgtccagggggtatCtcctgaggtccatcatgcat	6	12	11	12	1	3	1	1	1	2	0	7	1	5	1	3	3	2	3	3	3	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:26828523C>T	ENST00000541819.2	-	6	770	c.668G>A	c.(667-669)aGa>aAa	p.R223K	GABRB3_ENST00000400188.3_Missense_Mutation_p.R96K|GABRB3_ENST00000311550.5_Missense_Mutation_p.R167K|GABRB3_ENST00000545868.1_Missense_Mutation_p.R82K|GABRB3_ENST00000299267.4_Missense_Mutation_p.R167K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	167					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGGGGGTATCTCCTGAGGTC	0.453													21	55					0	0	0	0	T	26828523	C	T	26828523	3	4	414	1	0	0	0	0	1	0	0	0	6216	913	32	2	941	2	GABRB3	15	26828523	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		26828523	75702869	123	82609											
VPS39	23339	broad.mit.edu	37	chr15	42457994	42457994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcagagactccacttcCgggagatcttcagtaaatat	11	10	10	10	2	2	2	1	0	1	2	4	4	4	2	2	2	0	2	2	2	3	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:42457994C>T	ENST00000318006.5	-	17	1863	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	VPS39_ENST00000348544.4_Silent_p.P578P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473													8	40					0	0	0	0	T	42457994	C	T	42457994	2	4	414	1	0	0	0	0	0	0	0	1	17305	639	23	1		1	VPS39	15	42457994	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	15629471	42457994	60073398	124	82610											
MYO5A	4644	broad.mit.edu	37	chr15	52672101	52672101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcactgccctcttctcatCaaacctacaaataaaaatca	15	10	2	14	0	4	0	3	0	2	0	5	0	4	0	2	0	4	1	2	0	6	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:52672101C>G	ENST00000399231.3	-	17	2260	c.2017G>C	c.(2017-2019)Gat>Cat	p.D673H	MYO5A_ENST00000356338.6_Missense_Mutation_p.D673H|MYO5A_ENST00000358212.6_Missense_Mutation_p.D673H|MYO5A_ENST00000553916.1_Missense_Mutation_p.D673H|MYO5A_ENST00000399233.2_Missense_Mutation_p.D673H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	673	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCTTCTCATCAAACCTACAA	0.493													18	53					0	0	0	0	G	52672101	C	G	52672101	3	3	414	1	0	0	0	0	1	0	0	0	10148	826	29	2	3650	2	MYO5A	15	52672101	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	10214107	52672101	49859291	125	82611											
DAPK2	23604	broad.mit.edu	37	chr15	64204146	64204146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcaccttcttcatcagCgagcgggtgaggtggttgca	7	10	15	9	2	3	1	2	1	1	0	3	2	3	1	1	4	4	3	1	4	0	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:64204146C>T	ENST00000261891.3	-	10	998	c.993G>A	c.(991-993)tcG>tcA	p.S331S	DAPK2_ENST00000457488.1_Silent_p.S331S			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	331	Calmodulin-binding.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCTTCATCAGCGAGCGGGTGA	0.577													9	22					0	0	0	0	T	64204146	C	T	64204146	2	4	414	1	0	0	0	0	0	0	0	1	4269	755	27	1		1	DAPK2	15	64204146	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	11532045	64204146	38327246	126	82612											
HCN4	10021	broad.mit.edu	37	chr15	73616247	73616247	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagttgaagacgccggagttGaggtcgtgctggactttgtg	7	12	16	6	3	0	3	0	2	0	1	1	5	0	5	1	3	1	3	1	3	2	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:73616247G>C	ENST00000261917.3	-	8	3180	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	729					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCCGGAGTTGAGGTCGTGCT	0.592													23	68					0	0	0	0	C	73616247	G	C	73616247	2	2	414	1	0	0	0	0	0	0	0	1	7049	1277	45	2		2	HCN4	15	73616247	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	9412101	73616247	28915145	127	82613											
NEIL1	79661	broad.mit.edu	37	chr15	75641450	75641450	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgcctggggcccagccCcaacaggagccactggccct	6	5	11	19	0	1	0	0	0	1	0	1	1	1	1	7	4	4	0	7	4	1	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:75641450C>G	ENST00000564784.1	+	3	833	c.204C>G	c.(202-204)ccC>ccG	p.P68P	NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Silent_p.P68P|NEIL1_ENST00000569035.1_Silent_p.P68P			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	68					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GGGCCCAGCCCCAACAGGAGC	0.657								Base excision repair (BER), DNA glycosylases					13	44					0	0	0	0	G	75641450	C	G	75641450	2	3	414	1	0	0	0	0	0	0	0	1	10388	610	22	4		4	NEIL1	15	75641450	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	2025203	75641450	26889942	128	82614											
PKD1	5310	broad.mit.edu	37	chr16	2159316	2159316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacgtggtttttgcccCgcacgctcaccacgtggtct	5	11	10	15	4	3	0	2	0	1	0	3	0	3	0	3	2	2	4	3	2	0	2	rs137905643	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:2159316C>T	ENST00000262304.4	-	15	6060	c.5852G>A	c.(5851-5853)cGg>cAg	p.R1951Q	PKD1_ENST00000423118.1_Missense_Mutation_p.R1951Q	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1951	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTTTTGCCCCGCACGCTCAC	0.706													5	28					0	0	0	0	T	2159316	C	T	2159316	3	4	414	1	0	0	0	0	1	0	0	0	12035	652	23	1	7187	1	PKD1	16	2159316	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		2159316	88195437	129	82615											
MGRN1	23295	broad.mit.edu	37	chr16	4714767	4714767	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaggctgtggtggacGaaggagatggtgagtgcgtc	8	9	17	7	2	1	2	1	1	0	1	3	5	2	3	1	5	1	1	1	5	1	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:4714767G>T	ENST00000399577.5	+	6	712	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E207*|MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E207*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E207*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E207*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	207					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TGTGGTGGACGAAGGAGATGG	0.592													18	61					1.67942e-08	3.09185e-08	1	0	T	4714767	G	T	4714767	4	4	414	1	0	0	0	0	0	1	0	0	9628	1059	37	3	641	3	MGRN1	16	4714767	Nonsense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2555451	4714767	85639986	130	82616											
NUDT16L1	84309	broad.mit.edu	37	chr16	4745024	4745024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcggaggcttccccaacttCctgagcaacgccttcgtgag	7	9	11	14	3	0	2	0	2	0	0	4	3	2	3	4	2	3	2	4	2	2	3	rs143151090		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:4745024C>G	ENST00000586536.1	+	3	570	c.550C>G	c.(550-552)Cct>Gct	p.P184A	NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.F160L	NM_001193452.1	NP_001180381.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	0	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						TCCCCAACTTCCTGAGCAACG	0.642													8	46					0	0	0	0	G	4745024	C	G	4745024	3	3	414	1	0	0	0	0	1	0	0	0	10804	854	30	2	490	2	NUDT16L1	16	4745024	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	30257	4745024	85609729	131	82617											
GGA2	23062	broad.mit.edu	37	chr16	23498078	23498078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtttgcagcctgaaggtcctCggggtggttgctctttagaa	6	13	14	8	1	1	2	0	1	1	1	3	2	2	2	2	4	3	4	2	4	3	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:23498078C>G	ENST00000309859.4	-	7	695	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	GGA2_ENST00000567468.1_Missense_Mutation_p.E205Q	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	205	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGAAGGTCCTCGGGGTGGTTG	0.507													64	154					0	0	0	0	G	23498078	C	G	23498078	3	3	414	1	0	0	0	0	1	0	0	0	6404	893	31	3	1272	3	GGA2	16	23498078	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	18753054	23498078	66856675	132	82618											
SEPT1	1731	broad.mit.edu	37	chr16	30393647	30393647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgacagacttgcggtgcaGctggttggggagggcagcaa	8	8	17	8	1	0	2	0	1	0	1	0	3	0	3	0	5	4	5	0	5	1	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:30393647G>C	ENST00000321367.3	-	3	229	c.184C>G	c.(184-186)Ctg>Gtg	p.L62V	SEPT1_ENST00000605106.1_Missense_Mutation_p.L20V|SEPT1_ENST00000571393.1_Missense_Mutation_p.L15V	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	15					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTGCGGTGCAGCTGGTTGGGG	0.582													11	39					0	0	0	0	C	30393647	G	C	30393647	3	2	414	1	0	0	0	0	1	0	0	0	14146	962	34	4	1100	4	SEPT1	16	30393647	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	6895569	30393647	59961106	133	82619											
ZNF768	79724	broad.mit.edu	37	chr16	30536711	30536711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgcccacccctggcccgGccaccccgccgacctggacc	4	3	9	25	3	0	0	0	0	0	0	0	2	0	1	11	3	1	0	11	3	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:30536711G>A	ENST00000380412.5	-	2	925	c.750C>T	c.(748-750)ggC>ggT	p.G250G	ZNF768_ENST00000562803.1_Silent_p.G219G	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	250					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CCCTGGCCCGGCCACCCCGCC	0.662													4	83					0	0	0	0	A	30536711	G	A	30536711	2	1	414	1	0	0	0	0	0	0	0	1	18235	1190	42	4		4	ZNF768	16	30536711	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	143064	30536711	59818042	134	82620											
OGFOD1	55239	broad.mit.edu	37	chr16	56503929	56503929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctagcctgagaaattcacGaaagtctgtgaggccttgga	11	11	11	8	1	3	2	1	2	2	1	3	5	3	3	2	2	1	0	2	2	3	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:56503929G>A	ENST00000566157.1	+	9	1038	c.915G>A	c.(913-915)acG>acA	p.T305T	OGFOD1_ENST00000568397.1_Silent_p.T262T	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	305							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAAATTCACGAAAGTCTGTG	0.478													9	36					0	0	0	0	A	56503929	G	A	56503929	2	1	414	1	0	0	0	0	0	0	0	1	10912	1045	37	1		1	OGFOD1	16	56503929	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	25967218	56503929	33850824	135	82621											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67487539	67487539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctccttgagccggtcatcGatgactgacaccgtcagagg	8	10	11	12	3	3	4	2	3	1	1	5	5	3	4	3	2	1	0	3	2	0	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:67487539G>A	ENST00000290949.3	-	2	360	c.210C>T	c.(208-210)atC>atT	p.I70I	ATP6V0D1_ENST00000540149.1_Silent_p.I70I|ATP6V0D1_ENST00000602876.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	70					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCCGGTCATCGATGACTGACA	0.532													23	52					0	0	0	0	A	67487539	G	A	67487539	2	1	414	1	0	0	0	0	0	0	0	1	1177	1048	37	1		1	ATP6V0D1	16	67487539	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	10983610	67487539	22867214	136	82622											
FAM65A	79567	broad.mit.edu	37	chr16	67578271	67578271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccgccccctcagcacGgggtgtccagctctggatgc	5	7	13	16	2	2	0	1	0	1	0	3	1	3	1	4	3	4	2	4	3	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:67578271G>A	ENST00000540839.3	+	16	2947	c.2727G>A	c.(2725-2727)acG>acA	p.T909T	FAM65A_ENST00000428437.2_Silent_p.T904T|FAM65A_ENST00000042381.4_Silent_p.T890T|FAM65A_ENST00000379312.3_Silent_p.T894T|FAM65A_ENST00000422602.2_Silent_p.T910T			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	894						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCTCAGCACGGGGTGTCCAG	0.637													6	115					0	0	0	0	A	67578271	G	A	67578271	2	1	414	1	0	0	0	0	0	0	0	1	5645	1103	39	1		1	FAM65A	16	67578271	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	90732	67578271	22776482	137	82623											
WWP2	11060	broad.mit.edu	37	chr16	69965757	69965757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctctacatcatcatgcGtggcgaggagggcctggact	7	8	14	12	3	3	0	2	0	1	0	3	3	3	2	2	5	2	1	2	5	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:69965757G>A	ENST00000359154.2	+	16	1747	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	WWP2_ENST00000448661.1_Missense_Mutation_p.R549H|WWP2_ENST00000568684.1_Missense_Mutation_p.R110H|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.R433H|WWP2_ENST00000356003.2_Missense_Mutation_p.R549H	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	549	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCATCATGCGTGGCGAGGAG	0.622													37	117					0	0	0	0	A	69965757	G	A	69965757	3	1	414	1	0	0	0	0	1	0	0	0	17512	1145	40	1	1708	1	WWP2	16	69965757	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2387486	69965757	20388996	138	82624											
CDYL2	124359	broad.mit.edu	37	chr16	80638305	80638305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagacttcataaattttgtCctgcaggtagctgaaaaggg	12	12	10	7	0	2	2	2	1	0	1	3	2	3	2	1	2	2	3	1	2	5	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:80638305C>T	ENST00000299564.8	-	7	1656	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	CDYL2_ENST00000566173.1_Missense_Mutation_p.D502N|CDYL2_ENST00000562812.1_Missense_Mutation_p.D502N|CDYL2_ENST00000563890.1_Missense_Mutation_p.D502N	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	501						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TAAATTTTGTCCTGCAGGTAG	0.557													23	66					0	0	0	0	T	80638305	C	T	80638305	3	4	414	1	0	0	0	0	1	0	0	0	3215	855	30	2	23	2	CDYL2	16	80638305	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	10672548	80638305	9716448	139	82625											
PKD1L2	114780	broad.mit.edu	37	chr16	81193337	81193337	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccgggggctggctccagGtcagactcagggaccacagt	7	6	15	13	1	2	1	2	0	0	1	3	2	3	2	3	5	1	2	3	5	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:81193337G>A	ENST00000525539.1	-	0	3785				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGCTCCAGGTCAGACTCAG	0.592													5	17					0	0	0	0	A	81193337	G	A	81193337	1	1	414	0	1	0	0	0	0	0	0	0	12037	1252	44	4		4	PKD1L2	16	81193337	RNA	SNP	G	TCGA-HD-7229-01A-11D-2012-08	555032	81193337	9161416	140	82626											
MBTPS1	8720	broad.mit.edu	37	chr16	84132678	84132678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcagcatacttgagggaaCgaaagacttttcgttggggc	11	11	12	7	2	1	2	1	1	0	1	2	4	1	3	0	3	3	2	0	3	3	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:84132678C>G	ENST00000343411.3	-	3	896	c.401G>C	c.(400-402)cGt>cCt	p.R134P		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	134					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGAGGGAACGAAAGACTTT	0.398													18	71					0	0	0	0	G	84132678	C	G	84132678	3	3	414	1	0	0	0	0	1	0	0	0	9430	536	19	3	2841	3	MBTPS1	16	84132678	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	2939341	84132678	6222075	141	82627											
TIMM22	29928	broad.mit.edu	37	chr17	902756	902756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttccctgcccacagtaccGgggaacatcagactggaaga	12	6	10	13	1	1	2	1	0	0	2	2	4	2	4	3	3	3	1	3	3	3	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:902756G>A	ENST00000327158.3	+	3	466	c.440G>A	c.(439-441)cGg>cAg	p.R147Q		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	147					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCACAGTACCGGGGAACATCA	0.488													39	101					0	0	0	0	A	902756	G	A	902756	3	1	414	1	0	0	0	0	1	0	0	0	16004	1116	39	1	450	1	TIMM22	17	902756	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		902756	80292454	142	82628											
DPH1	1801	broad.mit.edu	37	chr17	1936810	1936810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattctaggtcgggcccctCggggccgcgtggccaatcag	5	7	14	15	4	2	0	1	0	1	0	4	0	2	0	5	5	0	0	5	5	2	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:1936810C>T	ENST00000263083.6	+	2	133	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	30					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCGGGCCCCTCGGGGCCGCGT	0.572													27	75					0	0	0	0	T	1936810	C	T	1936810	3	4	414	1	0	0	0	0	1	0	0	0	4755	875	31	1	94	1	DPH1	17	1936810	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	1034054	1936810	79258400	143	82629											
TMEM95	339168	broad.mit.edu	37	chr17	7259577	7259578	+	Frame_Shift_Del	DEL	CG	CG	-																															cggaggtgtcctgctggcccCgaaagcgctgcttcccaggt																								rs142054857		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:7259577_7259578delCG	ENST00000389982.4	+	5	473_474	c.391_392delCG	c.(391-393)afs	p.R131fs	TMEM95_ENST00000330767.4_Frame_Shift_Del_p.R139fs|TMEM95_ENST00000576060.1_Frame_Shift_Del_p.R131fs			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	131						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGCTGGCCCCGAAAGCGCTGC	0.678											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	32	---	---	---	---					-	7259578	CG	-	7259577	7	5	414	1	0	1	0	1	0	0	0	0	16317	644	23	0	433	0	TMEM95	17	7259577	Frame_Shift_Del	DEL	CG	TCGA-HD-7229-01A-11D-2012-08	5322767	7259577	73935633	144	82630											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			31	29					0	0	0	0	A	7578395	G	A	7578395	3	1	414	1	0	0	0	0	1	0	0	0	16476	1348	47	4	763	4	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	318818	7578395	73616815	145	82631											
CCDC144A	9720	broad.mit.edu	37	chr17	16638738	16638738	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaaagtgaaaatatgttGcttcgacagcaactggatga	15	10	9	7	1	0	2	0	2	0	0	1	4	0	3	0	1	4	3	0	1	6	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:16638738G>A	ENST00000443444.2	+	12	3293	c.3153G>A	c.(3151-3153)ttG>ttA	p.L1051L	CCDC144A_ENST00000456009.1_Silent_p.L771L|CCDC144A_ENST00000360524.8_Silent_p.L1051L|CCDC144A_ENST00000399273.1_Silent_p.L1051L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1051L			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1051																	AAAATATGTTGCTTCGACAGC	0.378													10	26					0	0	0	0	A	16638738	G	A	16638738	2	1	414	1	0	0	0	0	0	0	0	1	2802	1310	46	4		4	CCDC144A	17	16638738	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	9060343	16638738	64556472	146	82632											
MPP3	4356	broad.mit.edu	37	chr17	41898342	41898343	+	Frame_Shift_Ins	INS	-	-	GC																															accacctccaggacctgcctINSgcgctggaagggcaggcccg																										TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:41898342_41898343insGC	ENST00000398393.1	-	9	1103_1104	c.843_844insGC	c.(841-846)cgggcafs	p.A282fs	MPP3_ENST00000398389.4_Frame_Shift_Ins_p.A257fs			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	257	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AGGACCTGCCTGCGCTGGAAGG	0.683													7	18	---	---	---	---					GC	41898343	-	GC	41898342	7	5	414	1	0	1	1	0	0	0	0	0	9805	1579	55	0	1028	0	MPP3	17	41898342	Frame_Shift_Ins	INS	-	TCGA-HD-7229-01A-11D-2012-08	25259604	41898342	39296868	147	82633											
NMT1	4836	broad.mit.edu	37	chr17	43180413	43180413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagcaatttcaccttaCgcccgtcatgagccaggagg	10	9	10	12	2	2	2	2	2	0	0	2	3	2	3	3	2	3	1	3	2	3	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:43180413C>T	ENST00000592782.1	+	10	1219	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	NMT1_ENST00000258960.2_Missense_Mutation_p.T363M			P30419	NMT1_HUMAN	N-myristoyltransferase 1	363					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TTTCACCTTACGCCCGTCATG	0.547													23	70					0	0	0	0	T	43180413	C	T	43180413	3	4	414	1	0	0	0	0	1	0	0	0	10573	536	19	1	1122	1	NMT1	17	43180413	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	1282071	43180413	38014797	148	82634											
MAPT	4137	broad.mit.edu	37	chr17	44060865	44060865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagtcctccccccaagactCccctccctccaaggcctccc	6	7	5	23	0	0	2	0	1	0	1	6	2	6	2	10	1	0	0	10	1	2	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:44060865C>A	ENST00000344290.5	+	6	1017	c.695C>A	c.(694-696)tCc>tAc	p.S232Y	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.S232Y|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.S232Y|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.S232Y|MAPT_ENST00000347967.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	232					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCCCAAGACTCCCCTCCCTCC	0.692													23	19					1.22574e-08	2.26825e-08	1	0	A	44060865	C	A	44060865	3	1	414	1	0	0	0	0	1	0	0	0	9366	855	30	2	713	2	MAPT	17	44060865	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	880452	44060865	37134345	149	82635											
PCTP	58488	broad.mit.edu	37	chr17	53848541	53848541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttttcccatgtccaacAgagacgtatcctttccacaa	11	11	4	15	1	0	1	0	0	0	1	4	2	4	1	5	0	1	1	5	0	3	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:53848541A>G	ENST00000576183.1	+	3	377	c.334A>G	c.(334-336)Aga>Gga	p.R112G	PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000573500.1_Missense_Mutation_p.R112G|PCTP_ENST00000268896.5_Missense_Mutation_p.R112G|PCTP_ENST00000325214.6_Missense_Mutation_p.R40G			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	112	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			CATGTCCAACAGAGACGTATC	0.453													25	61					0	0	0	0	G	53848541	A	G	53848541	3	3	414	1	0	0	0	0	1	0	0	0	11678	180	7	5	344	5	PCTP	17	53848541	Missense_Mutation	SNP	A	TCGA-HD-7229-01A-11D-2012-08	9787676	53848541	27346669	150	82636											
ACTG1	71	broad.mit.edu	37	chr17	79478626	79478626	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggccacgtacatggcCggggtgttgaaggtctcaaa	9	9	15	8	2	1	1	1	1	1	0	2	2	1	2	2	6	1	2	2	6	3	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:79478626C>A	ENST00000575842.1	-	3	816	c.390G>T	c.(388-390)ccG>ccT	p.P130P	ACTG1_ENST00000573283.1_Silent_p.P130P|ACTG1_ENST00000575087.1_Silent_p.P130P|ACTG1_ENST00000331925.2_Silent_p.P130P			P63261	ACTG_HUMAN	actin, gamma 1	130					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTACATGGCCGGGGTGTTGA	0.612													43	79					1.03325e-14	1.95229e-14	1	0	A	79478626	C	A	79478626	2	1	414	1	0	0	0	0	0	0	0	1	196	639	23	3		3	ACTG1	17	79478626	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	25630085	79478626	1716584	151	82637											
CHMP1B	57132	broad.mit.edu	37	chr18	11851736	11851736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcgcgagtcgatgcagtgGctgccagggtccagacggcg	6	6	18	11	5	0	1	0	0	0	1	2	3	1	1	2	3	3	2	2	3	0	0			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr18:11851736G>T	ENST00000526991.2	+	1	342	c.226G>T	c.(226-228)Gct>Tct	p.A76S	GNAL_ENST00000423027.3_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Intron|RP11-78A19.3_ENST00000586474.1_RNA	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	76					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						CGATGCAGTGGCTGCCAGGGT	0.552													42	100					3.76604e-16	7.26886e-16	1	0	T	11851736	G	T	11851736	3	4	414	1	0	0	0	0	1	0	0	0	3382	1203	42	4	228	4	CHMP1B	18	11851736	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		11851736	66225512	152	82638											
PMAIP1	5366	broad.mit.edu	37	chr18	57569886	57569889	+	Frame_Shift_Del	DEL	AGTC	AGTC	-																															ctttccttctcagagctggaAgtcgagtgtgctactcaact																										TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr18:57569886_57569889delAGTC	ENST00000316660.6	+	2	296_299	c.66_69delAGTC	c.(64-69)gafs	p.EV22fs	PMAIP1_ENST00000269518.9_Frame_Shift_Del_p.SR73fs	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	22					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				CAGAGCTGGAAGTCGAGTGTGCTA	0.431													12	36	---	---	---	---					-	57569889	AGTC	-	57569886	7	5	414	1	0	1	0	1	0	0	0	0	12202	69	3	0	72	0	PMAIP1	18	57569886	Frame_Shift_Del	DEL	AGTC	TCGA-HD-7229-01A-11D-2012-08	45718150	57569886	20507362	153	82639											
HMHA1	23526	broad.mit.edu	37	chr19	1084297	1084297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgtacctggaggcgggcGaggcggtggtctacccgctg	4	7	18	12	5	1	0	0	0	1	0	1	2	1	1	3	6	3	2	3	6	2	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:1084297G>A	ENST00000313093.2	+	22	3247	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	HMHA1_ENST00000536472.1_Missense_Mutation_p.E874K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E1033K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E1022K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E889K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E1010K|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590577.1_Missense_Mutation_p.E641K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1006					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GGAGGCGGGCGAGGCGGTGGT	0.687													39	65					0	0	0	0	A	1084297	G	A	1084297	3	1	414	1	0	0	0	0	1	0	0	0	7290	1059	37	1	3102	1	HMHA1	19	1084297	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08		1084297	58044686	154	82640											
GPX4	2879	broad.mit.edu	37	chr19	1105487	1105487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcggatcctggccttccCgtgtaaccagttcgggaagc	6	11	12	12	3	0	0	0	0	0	0	3	2	2	2	4	3	3	2	4	3	2	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:1105487C>T	ENST00000354171.8	+	3	409	c.302C>T	c.(301-303)cCg>cTg	p.P101L	GPX4_ENST00000589115.1_Missense_Mutation_p.P101L	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	101					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		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;0.000172)|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)	Glutathione(DB00143)	CTGGCCTTCCCGTGTAACCAG	0.667													15	42					0	0	0	0	T	1105487	C	T	1105487	3	4	414	1	0	0	0	0	1	0	0	0	6792	652	23	1	511	1	GPX4	19	1105487	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	21190	1105487	58023496	155	82641											
CLEC4M	10332	broad.mit.edu	37	chr19	7831597	7831597	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccaaggaaactgttaCttcatgtctaactcccagcg	10	13	6	12	1	3	0	1	0	2	0	5	1	5	1	2	1	4	1	2	1	4	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:7831597C>G	ENST00000327325.5	+	5	958	c.840C>G	c.(838-840)taC>taG	p.Y280*	CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Y213*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Y213*|CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Y144*|CLEC4M_ENST00000597522.1_Nonsense_Mutation_p.Y188*|CLEC4M_ENST00000334806.5_Nonsense_Mutation_p.Y229*|CLEC4M_ENST00000596363.1_Nonsense_Mutation_p.Y252*|CLEC4M_ENST00000357361.2_Nonsense_Mutation_p.Y280*|CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Y258*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Y268*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	280	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAACTGTTACTTCATGTCTA	0.577													17	75					0	0	0	0	G	7831597	C	G	7831597	4	3	414	1	0	0	0	0	0	1	0	0	3548	576	20	4	879	4	CLEC4M	19	7831597	Nonsense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	6726110	7831597	51297386	156	82642											
COL5A3	50509	broad.mit.edu	37	chr19	10090691	10090691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggggccctttggcccaggGaatcctggagggccttgcag	5	7	18	11	0	0	0	0	0	0	0	1	2	1	2	4	7	1	1	4	7	1	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:10090691G>A	ENST00000264828.3	-	36	2722	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	879	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGGCCCAGGGAATCCTGGAG	0.612													9	26					0	0	0	0	A	10090691	G	A	10090691	2	1	414	1	0	0	0	0	0	0	0	1	3728	1165	41	2		2	COL5A3	19	10090691	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2259094	10090691	49038292	157	82643											
DNM2	1785	broad.mit.edu	37	chr19	10923011	10923011	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaaggagtactggttTgtgctgactgccgagtcact	7	11	13	10	1	1	1	1	1	0	0	2	3	2	2	2	3	3	4	2	3	2	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:10923011T>C	ENST00000314646.5	+	15	1793	c.1629T>C	c.(1627-1629)ttT>ttC	p.F543F	DNM2_ENST00000355667.6_Silent_p.F543F|DNM2_ENST00000585892.1_Silent_p.F543F|DNM2_ENST00000389253.4_Silent_p.F543F|DNM2_ENST00000359692.6_Silent_p.F539F|DNM2_ENST00000408974.4_Silent_p.F539F			P50570	DYN2_HUMAN	dynamin 2	543	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTACTGGTTTGTGCTGACTG	0.622			"F, N, Splice, Mis, O"		ETP ALL								3	14					0	0	0	0	C	10923011	T	C	10923011	2	2	414	1	0	0	0	0	0	0	0	1	4708	1809	63	5		5	DNM2	19	10923011	Silent	SNP	T	TCGA-HD-7229-01A-11D-2012-08	832320	10923011	48205972	158	82644											
NOTCH3	4854	broad.mit.edu	37	chr19	15299887	15299887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgacagacactcgttgacatCggtctcacagcgaggtccag	10	7	11	13	4	1	2	1	1	1	1	5	4	2	2	1	2	1	1	1	2	0	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:15299887C>T	ENST00000263388.2	-	8	1366	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	431	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGTTGACATCGGTCTCACAG	0.642													24	39					0	0	0	0	T	15299887	C	T	15299887	3	4	414	1	0	0	0	0	1	0	0	0	10620	884	31	1	5778	1	NOTCH3	19	15299887	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	4376876	15299887	43829096	159	82645											
C19orf44	84167	broad.mit.edu	37	chr19	16613911	16613911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcatttactgtacccagCgtggaactctccagcgcaaa	12	8	9	12	2	1	1	0	0	1	1	2	2	1	2	2	1	6	3	2	1	4	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:16613911C>T	ENST00000221671.3	+	3	951	c.795C>T	c.(793-795)agC>agT	p.S265S	C19orf44_ENST00000594035.1_Silent_p.S265S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	265										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTGTACCCAGCGTGGAACTCT	0.443													34	60					0	0	0	0	T	16613911	C	T	16613911	2	4	414	1	0	0	0	0	0	0	0	1	1945	767	27	1		1	C19orf44	19	16613911	Silent	SNP	C	TCGA-HD-7229-01A-11D-2012-08	1314024	16613911	42515072	160	82646											
ZNF90	7643	broad.mit.edu	37	chr19	20229606	20229606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcaacacttactataCataagataagtcatactgaa	16	11	4	10	0	2	2	2	1	0	1	3	2	3	2	1	0	4	1	1	0	8	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:20229606C>G	ENST00000418063.2	+	4	1355	c.1243C>G	c.(1243-1245)Cat>Gat	p.H415D	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	415						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACTTACTATACATAAGATAAG	0.373													7	10					0	0	0	0	G	20229606	C	G	20229606	3	3	414	1	0	0	0	0	1	0	0	0	18292	478	17	4	1257	4	ZNF90	19	20229606	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	3615695	20229606	38899377	161	82647											
RBM42	79171	broad.mit.edu	37	chr19	36120554	36120554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctgtgatccgcccaattatCgcgaccaacacataccagca	12	7	6	16	3	0	1	0	1	0	0	2	2	1	1	5	0	3	1	5	0	4	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:36120554C>G	ENST00000262633.4	+	2	366	c.261C>G	c.(259-261)atC>atG	p.I87M	RBM42_ENST00000592202.1_Missense_Mutation_p.I87M|RBM42_ENST00000588161.1_Missense_Mutation_p.I87M|RBM42_ENST00000589871.1_Missense_Mutation_p.I87M|RBM42_ENST00000586618.1_Missense_Mutation_p.I87M|RBM42_ENST00000360475.4_Missense_Mutation_p.I87M|RBM42_ENST00000589559.1_Missense_Mutation_p.I87M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	87						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCCAATTATCGCGACCAACA	0.567													14	63					0	0	0	0	G	36120554	C	G	36120554	3	3	414	1	0	0	0	0	1	0	0	0	13218	874	31	3	267	3	RBM42	19	36120554	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	15890948	36120554	23008429	162	82648											
RINL	126432	broad.mit.edu	37	chr19	39361379	39361379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacccccagaatctgaggcGatgcgcacccgaaggcttcg	9	5	13	14	4	1	2	0	1	1	1	2	5	1	3	3	3	1	2	3	3	2	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:39361379G>A	ENST00000340740.3	-	8	900	c.513C>T	c.(511-513)atC>atT	p.I171I	RINL_ENST00000602238.1_Intron|RINL_ENST00000598904.1_Silent_p.I171I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000591812.1_Silent_p.I285I	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	171							GTPase activator activity	p.I171I(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						AATCTGAGGCGATGCGCACCC	0.647													14	31					0	0	0	0	A	39361379	G	A	39361379	2	1	414	1	0	0	0	0	0	0	0	1	13460	1048	37	1		1	RINL	19	39361379	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	3240825	39361379	19767604	163	82649											
SARS2	54938	broad.mit.edu	37	chr19	39439299	39439299	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttcccgccatgctccacCtcccagcctctgaagccctc	5	8	6	22	2	1	1	0	1	1	0	5	1	4	1	8	0	3	2	8	0	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:39439299C>A	ENST00000448145.2	-	0	81				FBXO17_ENST00000595329.1_Missense_Mutation_p.E123D|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.G28C|FBXO17_ENST00000292852.4_Missense_Mutation_p.E123D			Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial						seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CATGCTCCACCTCCCAGCCTC	0.587													17	31					6.44725e-10	1.2055e-09	1	0	A	39439299	C	A	39439299	1	1	414	1	0	0	0	0	0	0	0	0	13931	680	24	4		4	SARS2	19	39439299	Translation_Start_Site	SNP	C	TCGA-HD-7229-01A-11D-2012-08	77920	39439299	19689684	164	82650											
GALP	85569	broad.mit.edu	37	chr19	56688559	56688559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcatccgcacctgccCaccgggtaacgcctccctaa	8	6	7	20	3	0	0	0	0	0	0	3	0	3	0	7	1	3	3	7	1	2	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:56688559C>T	ENST00000357330.2	+	2	164	c.82C>T	c.(82-84)Cac>Tac	p.H28Y	GALP_ENST00000590002.1_Missense_Mutation_p.H28Y|GALP_ENST00000440823.1_Missense_Mutation_p.H28Y	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	28					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CGCACCTGCCCACCGGGTAAC	0.587													4	19					0	0	0	0	T	56688559	C	T	56688559	3	4	414	1	0	0	0	0	1	0	0	0	6275	594	21	4	84	4	GALP	19	56688559	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	17249260	56688559	2440424	165	82651											
ESF1	51575	broad.mit.edu	37	chr20	13763380	13763380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggttttcatttttttaattCctatagaattatctaaatca	13	20	3	5	0	3	1	2	0	1	1	4	1	4	1	1	1	0	1	1	1	7	11			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:13763380C>T	ENST00000202816.1	-	2	514	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	136	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.G136A(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTTTTAATTCCTATAGAATT	0.264													5	24					0	0	0	0	T	13763380	C	T	13763380	3	4	414	1	0	0	0	0	1	0	0	0	5289	855	30	2	2200	2	ESF1	20	13763380	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		13763380	49262140	166	82652											
SNX5	27131	broad.mit.edu	37	chr20	17932146	17932146	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccaaaggtcacttacctTaactccagtaaaaaggactt	15	9	6	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	1	3	2	6	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:17932146T>G	ENST00000377768.3	-	7	919	c.607A>C	c.(607-609)Aag>Cag	p.K203Q	SNX5_ENST00000377759.4_Missense_Mutation_p.K203Q|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	203	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCACTTACCTTAACTCCAGTA	0.363													17	24					0	0	0	0	G	17932146	T	G	17932146	3	3	414	1	0	0	0	0	1	0	0	0	14993	1763	61	5	639	5	SNX5	20	17932146	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	4168766	17932146	45093374	167	82653											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31958354	31958354	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttgtactgaacttccCggagcaaagagactgtctgg	10	10	11	10	1	1	2	0	1	1	1	2	4	2	3	2	2	3	3	2	2	3	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:31958354C>G	ENST00000357886.4	-	12	1538	c.1385G>C	c.(1384-1386)cGg>cCg	p.R462P	CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R358P|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R371P|CDK5RAP1_ENST00000544843.1_Intron|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R448P			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	462					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R448L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGAACTTCCCGGAGCAAAGA	0.537													35	122					0	0	0	0	G	31958354	C	G	31958354	3	3	414	1	0	0	0	0	1	0	0	0	3174	652	23	3	436	3	CDK5RAP1	20	31958354	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	14026208	31958354	31067166	168	82654											
SIK1	150094	broad.mit.edu	37	chr21	44839014	44839014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctaggcccggccccTgcctggcctcctcactgatg	3	9	9	20	1	2	1	1	1	1	0	4	1	4	1	8	3	1	0	8	3	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr21:44839014T>A	ENST00000270162.6	-	11	1481	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	450					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCCCGGCCCCTGCCTGGCCTC	0.701													5	6					0	0	0	0	A	44839014	T	A	44839014	3	1	414	1	0	0	0	0	1	0	0	0	14405	1580	55	5	1018	5	SIK1	21	44839014	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08		44839014	3290881	169	82655											
HIRA	7290	broad.mit.edu	37	chr22	19398284	19398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcagggtgaatatcaaCtgaaaaaatcggcttgcctg	12	9	10	10	2	2	2	2	2	0	0	3	2	2	2	2	2	2	1	2	2	6	2			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:19398284C>T	ENST00000263208.5	-	2	311	c.55G>A	c.(55-57)Gtt>Att	p.V19I	HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000541063.1_5'UTR|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.V19I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	19					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGAATATCAACTGAAAAAATC	0.383													49	157					0	0	0	0	T	19398284	C	T	19398284	3	4	414	1	0	0	0	0	1	0	0	0	7170	565	20	4	3094	4	HIRA	22	19398284	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		19398284	31906282	170	82656											
CSNK1E	1454	broad.mit.edu	37	chr22	38694868	38694868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgcggaagagctgacGtaggtaagagtagtcgggct	10	8	18	5	3	0	3	0	1	0	2	1	5	0	4	0	4	2	6	0	4	4	4			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:38694868G>A	ENST00000396832.1	-	7	1068	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R270C|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R270C|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R270C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R270C|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R270C	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	270	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					AAGAGCTGACGTAGGTAAGAG	0.542											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	98					0	0	0	0	A	38694868	G	A	38694868	3	1	414	1	0	0	0	0	1	0	0	0	3985	1145	40	1	458	1	CSNK1E	22	38694868	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	19296584	38694868	12609698	171	82657											
L3MBTL2	83746	broad.mit.edu	37	chr22	41626178	41626178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaagagcatctagacGtggcctcgcccgacaaggct	11	6	13	11	3	1	3	0	1	1	2	2	5	1	4	2	3	1	2	2	3	4	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:41626178G>T	ENST00000216237.5	+	17	2199	c.2041G>T	c.(2041-2043)Gtg>Ttg	p.V681L	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	681					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCATCTAGACGTGGCCTCGCC	0.607													18	61					6.33239e-15	1.20282e-14	1	0	T	41626178	G	T	41626178	3	4	414	1	0	0	0	0	1	0	0	0	8645	1145	40	3	2107	3	L3MBTL2	22	41626178	Missense_Mutation	SNP	G	TCGA-HD-7229-01A-11D-2012-08	2931310	41626178	9678388	172	82658											
PRKX	5613	broad.mit.edu	37	chrX	3592789	3592789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcaccaggtgcaccCgcccgaacgtcccagtgcct	6	8	8	19	3	2	0	1	0	1	0	4	1	3	0	6	1	3	1	6	1	1	1			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:3592789C>G	ENST00000262848.5	-	2	539	c.185G>C	c.(184-186)cGg>cCg	p.R62P		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	62	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CAGGTGCACCCGCCCGAACGT	0.552													25	22					0	0	0	0	G	3592789	C	G	3592789	3	3	414	1	0	0	0	0	1	0	0	0	12607	652	23	3	919	3	PRKX	23	3592789	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08		3592789	151677771	173	82659											
CXorf58	254158	broad.mit.edu	37	chrX	23956699	23956699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccaacctctatatcggcCctacaaacagcaaaatcaag	15	8	5	13	1	2	0	1	0	1	0	4	0	3	0	3	1	4	1	3	1	8	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:23956699C>A	ENST00000379211.3	+	8	1370	c.821C>A	c.(820-822)cCc>cAc	p.P274H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	274										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CTATATCGGCCCTACAAACAG	0.323													28	25					2.46105e-21	4.80173e-21	1	0	A	23956699	C	A	23956699	3	1	414	1	0	0	0	0	1	0	0	0	4146	623	22	4	847	4	CXorf58	23	23956699	Missense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	20363910	23956699	131313861	174	82660											
KDM6A	7403	broad.mit.edu	37	chrX	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacaggagttgcacaggtaCgatctactggaattcctaat	13	10	9	9	1	1	0	0	0	1	0	2	3	2	2	1	3	4	3	1	3	5	5			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:44922694C>T	ENST00000377967.4	+	16	1596	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.R519*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCACAGGTACGATCTACTGG	0.463			"D, N, F, S"		"renal, oesophageal SCC, MM"								19	19					0	0	0	0	T	44922694	C	T	44922694	4	4	414	1	0	0	0	0	0	1	0	0	8189	528	19	1	1617	1	KDM6A	23	44922694	Nonsense_Mutation	SNP	C	TCGA-HD-7229-01A-11D-2012-08	20965995	44922694	110347866	175	82661											
ACRC	93953	broad.mit.edu	37	chrX	70823685	70823685	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacaatagtgatgattcGgatgttcccgacgacaacag	13	8	11	9	4	0	2	0	2	0	0	2	7	1	3	1	1	1	1	1	1	3	3			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:70823685G>C	ENST00000373695.1	+	7	1095	c.558G>C	c.(556-558)tcG>tcC	p.S186S	ACRC_ENST00000373696.3_Silent_p.S186S			Q96QF7	ACRC_HUMAN	acidic repeat containing	186	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGATGTTCCCG	0.498													95	74					0	0	0	0	C	70823685	G	C	70823685	2	2	414	1	0	0	0	0	0	0	0	1	171	1103	39	3		3	ACRC	23	70823685	Silent	SNP	G	TCGA-HD-7229-01A-11D-2012-08	25900991	70823685	84446875	176	82662											
ENOX2	10495	broad.mit.edu	37	chrX	129771269	129771269	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgttagggtcatcttcTctgtggactttgccttgttc	3	20	9	9	0	4	0	1	0	3	0	6	1	4	1	1	2	1	2	1	2	1	6			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:129771269T>G	ENST00000338144.3	-	12	1749	c.1332A>C	c.(1330-1332)agA>agC	p.R444S	ENOX2_ENST00000394363.1_Missense_Mutation_p.R415S|ENOX2_ENST00000370935.1_Missense_Mutation_p.R415S|ENOX2_ENST00000370927.1_Missense_Mutation_p.R444S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	444					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGTCATCTTCTCTGTGGACTT	0.478													84	54					0	0	0	0	G	129771269	T	G	129771269	3	3	414	1	0	0	0	0	1	0	0	0	5165	1548	54	5	520	5	ENOX2	23	129771269	Missense_Mutation	SNP	T	TCGA-HD-7229-01A-11D-2012-08	58947584	129771269	25499291	177	82663											
VPS13D	55187	broad.mit.edu	37	chr1	12414089	12414090	+	Frame_Shift_Del	DEL	TC	TC	-																															atatgccctcaaacatatttTctgacagtgcaaaacagatt																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:12414089_12414090delTC	ENST00000358136.3	+	47	9620_9621	c.9490_9491delTC	c.(9490-9492)tfs	p.S3164fs	VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S3139fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3163					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACATATTTTCTGACAGTGCA	0.356													16	73	---	---	---	---					-	12414090	TC	-	12414089	7	5	415	1	0	1	0	1	0	0	0	0	17288	1783	62	0	9672	0	VPS13D	1	12414089	Frame_Shift_Del	DEL	TC	TCGA-HD-7753-01A-11D-2078-08		12414089	236836532	1	82664											
SCMH1	22955	broad.mit.edu	37	chr1	41514424	41514424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacggttttctggtgataaGcacagtcgatacaggcctgg	10	10	13	8	2	1	2	0	1	1	1	2	3	1	2	1	4	2	2	1	4	2	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:41514424G>A	ENST00000402904.2	-	11	1582	c.1214C>T	c.(1213-1215)gCt>gTt	p.A405V	SCMH1_ENST00000456518.2_Missense_Mutation_p.A247V|SCMH1_ENST00000397171.2_Missense_Mutation_p.A344V|SCMH1_ENST00000372597.1_Missense_Mutation_p.A358V|SCMH1_ENST00000361705.3_Missense_Mutation_p.A358V|SCMH1_ENST00000361191.5_Missense_Mutation_p.A344V|SCMH1_ENST00000337495.5_Missense_Mutation_p.A415V|SCMH1_ENST00000397174.2_Missense_Mutation_p.A385V|SCMH1_ENST00000326197.7_Missense_Mutation_p.A405V|SCMH1_ENST00000372595.1_Missense_Mutation_p.A344V|SCMH1_ENST00000372596.1_Missense_Mutation_p.A344V	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	405					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTGGTGATAAGCACAGTCGAT	0.522													58	67					0	0	0	0	A	41514424	G	A	41514424	3	1	415	1	0	0	0	0	1	0	0	0	13995	971	34	4	792	4	SCMH1	1	41514424	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	29100335	41514424	207736197	2	82665											
DOCK7	85440	broad.mit.edu	37	chr1	62921091	62921091	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcattcagtttagagAtccattttgcgaaggctcat	11	13	9	8	1	2	1	2	0	0	1	3	3	3	1	1	1	2	3	1	1	3	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:62921091A>G	ENST00000251157.5	-	49	6417	c.6384T>C	c.(6382-6384)gaT>gaC	p.D2128D	DOCK7_ENST00000340370.5_Silent_p.D2108D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2139					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						CAGTTTAGAGATCCATTTTGC	0.348													19	27					0	0	0	0	G	62921091	A	G	62921091	2	3	415	1	0	0	0	0	0	0	0	1	4728	330	12	5		5	DOCK7	1	62921091	Silent	SNP	A	TCGA-HD-7753-01A-11D-2078-08	21406667	62921091	186329530	3	82666											
SPAG17	200162	broad.mit.edu	37	chr1	118584559	118584559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactatcctctttctctgcgTtatccttgcctttcttttta	4	22	3	12	1	3	0	0	0	3	0	6	0	5	0	3	0	3	1	3	0	4	9			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:118584559T>C	ENST00000336338.5	-	21	2986	c.2921A>G	c.(2920-2922)aAc>aGc	p.N974S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	974						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTCTGCGTTATCCTTGCC	0.393													95	205					0	0	0	0	C	118584559	T	C	118584559	3	2	415	1	0	0	0	0	1	0	0	0	15069	1725	60	5	3862	5	SPAG17	1	118584559	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	55663468	118584559	130666062	4	82667											
TAGLN2	8407	broad.mit.edu	37	chr1	159890213	159890213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggtgatccactggatcagGatctgctccagatctgcatc	8	11	11	11	0	3	2	1	1	2	1	6	4	5	4	2	3	2	2	2	3	0	0			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:159890213G>A	ENST00000368097.4	-	2	397	c.87C>T	c.(85-87)atC>atT	p.I29I	TAGLN2_ENST00000368096.1_Silent_p.I50I|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Silent_p.I29I	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	29	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGATCAGGATCTGCTCCA	0.582													12	44					0	0	0	0	A	159890213	G	A	159890213	2	1	415	1	0	0	0	0	0	0	0	1	15630	1164	41	2		2	TAGLN2	1	159890213	Silent	SNP	G	TCGA-HD-7753-01A-11D-2078-08	41305654	159890213	89360408	5	82668											
OR2T3	343173	broad.mit.edu	37	chr1	248637082	248637082	+	Missense_Mutation	SNP	G	G	T																															cccactgctgatgaaccagaGggtgtgccagctcctggtgt																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:248637082G>T	ENST00000359594.2	+	1	456	c.431G>T	c.(430-432)aGg>aTg	p.R144M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAACCAGAGGGTGTGCCAG	0.552													8	41					4.68919e-08	5.1808e-08	1	0	T	248637082	G	T	248637082	3	4	415	1	0	0	0	0	1	0	0	0	11094	1000	35	4	433	4	OR2T3	1	248637082	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	88746869	248637082	613539	6	82669	1049	2									
OR2T3	343173	broad.mit.edu	37	chr1	248637083	248637083	+	Missense_Mutation	SNP	G	G	T																															ccactgctgatgaaccagagGgtgtgccagctcctggtgtc																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:248637083G>T	ENST00000359594.2	+	1	457	c.432G>T	c.(430-432)agG>agT	p.R144S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAACCAGAGGGTGTGCCAGC	0.552													8	41					4.68919e-08	5.1808e-08	1	0	T	248637083	G	T	248637083	3	4	415	1	0	0	0	0	1	0	0	0	11094	1223	43	4	434	4	OR2T3	1	248637083	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	1	248637083	613538	7	82670	1049	2									
POMC	5443	broad.mit.edu	37	chr2	25387568	25387568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctccaggcaccagccaCgcacttccatggaggcctga	8	7	10	16	1	1	1	0	1	1	0	3	2	2	2	5	3	2	3	5	3	0	1	rs143923583	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:25387568C>A	ENST00000405623.1	-	2	529	c.74G>T	c.(73-75)cGt>cTt	p.R25L	POMC_ENST00000264708.3_Missense_Mutation_p.R25L|POMC_ENST00000395826.2_Missense_Mutation_p.R25L|POMC_ENST00000380794.1_Missense_Mutation_p.R25L			P01189	COLI_HUMAN	proopiomelanocortin	25					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GCACCAGCCACGCACTTCCAT	0.612													26	60					7.92952e-12	9.36504e-12	1	0	A	25387568	C	A	25387568	3	1	415	1	0	0	0	0	1	0	0	0	12314	536	19	3	737	3	POMC	2	25387568	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08		25387568	217811805	8	82671											
B3GNT2	10678	broad.mit.edu	37	chr2	62450518	62450518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagatgattgatatttggtCtcagttgcagagtgctcatt	10	15	11	5	0	2	4	2	2	1	2	3	5	2	4	0	1	2	3	0	1	1	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:62450518C>G	ENST00000301998.4	+	2	1415	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S388C	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	388						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATATTTGGTCTCAGTTGCAG	0.323													7	37					0	0	0	0	G	62450518	C	G	62450518	3	3	415	1	0	0	0	0	1	0	0	0	1261	913	32	2	1165	2	B3GNT2	2	62450518	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	37062950	62450518	180748855	9	82672											
SLC35F5	80255	broad.mit.edu	37	chr2	114476737	114476737	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggactaaacttacctctgaAttcgatgttttctgcatata	11	15	7	8	1	2	1	0	1	2	0	3	3	2	2	1	1	3	2	1	1	6	7			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:114476737A>T	ENST00000245680.2	-	14	1903	c.1490T>A	c.(1489-1491)aTt>aAt	p.I497N	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	497					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTACCTCTGAATTCGATGTTT	0.333													9	48					0	0	0	0	T	114476737	A	T	114476737	3	4	415	1	0	0	0	0	1	0	0	0	14680	101	4	5	89	5	SLC35F5	2	114476737	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	52026219	114476737	128722636	10	82673											
LRP1B	53353	broad.mit.edu	37	chr2	140990803	140990803	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctattttctttggaagcagTtctttcctttcatcaacact	8	19	4	10	0	5	0	2	0	3	0	6	1	6	1	1	1	2	2	1	1	3	7			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:140990803T>A	ENST00000389484.3	-	91	14723	c.13752A>T	c.(13750-13752)gaA>gaT	p.E4584D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4584					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGGAAGCAGTTCTTTCCTTT	0.328										TSP Lung(27;0.18)			5	49					0	0	0	0	A	140990803	T	A	140990803	3	1	415	1	0	0	0	0	1	0	0	0	9019	1722	60	5	51	5	LRP1B	2	140990803	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	26514066	140990803	102208570	11	82674											
RIF1	55183	broad.mit.edu	37	chr2	152276855	152276855	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattattgcttcagaaacagCaagaaatagcatctattacg	16	11	6	8	1	2	2	1	0	1	2	2	2	2	2	0	0	5	3	0	0	7	6			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:152276855C>T	ENST00000243326.4	+	6	1138	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	RIF1_ENST00000444746.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000433166.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.Q219*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	219					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGAAACAGCAAGAAATAGC	0.413													15	29					0	0	0	0	T	152276855	C	T	152276855	4	4	415	1	0	0	0	0	0	1	0	0	13442	711	25	4	677	4	RIF1	2	152276855	Nonsense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	11286052	152276855	90922518	12	82675											
GALNT13	114805	broad.mit.edu	37	chr2	155252510	155252510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaaattccaggtgttgtCaaagtggattatggagatgt	13	13	12	3	0	1	2	1	1	0	1	2	4	2	3	1	3	0	1	1	3	4	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:155252510C>T	ENST00000392825.3	+	10	1731	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	GALNT13_ENST00000409237.1_Silent_p.V388V|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	388						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGGTGTTGTCAAAGTGGATT	0.353													9	29					0	0	0	0	T	155252510	C	T	155252510	2	4	415	1	0	0	0	0	0	0	0	1	6260	813	29	2		2	GALNT13	2	155252510	Silent	SNP	C	TCGA-HD-7753-01A-11D-2078-08	2975655	155252510	87946863	13	82676											
CD28	940	broad.mit.edu	37	chr2	204591669	204591669	+	Frame_Shift_Del	DEL	C	C	-																															gttatgtatcctcctccttaCctagacaatgagaagagcaa																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:204591669delC	ENST00000324106.7	+	2	515	c.366delC	c.(364-366)tafs	p.Y122fs	CD28_ENST00000458610.2_Frame_Shift_Del_p.Y136fs|CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Intron	NM_006139.3	NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	122	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCCTCCTTACCTAGACAATG	0.368													23	30	---	---	---	---					-	204591669	C	-	204591669	7	5	415	1	0	1	0	1	0	0	0	0	3022	518	18	0	372	0	CD28	2	204591669	Frame_Shift_Del	DEL	C	TCGA-HD-7753-01A-11D-2078-08	49339159	204591669	38607704	14	82677											
ARMC9	80210	broad.mit.edu	37	chr2	232079577	232079577	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatttgacaacggagacCagaaggtgttcttcgatctg	10	11	11	9	2	2	3	0	1	2	2	3	5	2	3	1	2	2	2	1	2	2	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:232079577C>T	ENST00000349938.4	+	4	405	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	71							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CAACGGAGACCAGAAGGTGTT	0.463													5	35					0	0	0	0	T	232079577	C	T	232079577	4	4	415	1	0	0	0	0	0	1	0	0	962	595	21	4	221	4	ARMC9	2	232079577	Nonsense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	27487908	232079577	11119796	15	82678											
PLCL2	23228	broad.mit.edu	37	chr3	17052602	17052602	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgttactgacgaagatgaAggagcagaaatgtctcagag	15	8	13	5	1	1	5	1	2	1	3	2	8	1	6	0	1	2	2	0	1	4	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:17052602A>C	ENST00000418129.2	+	2	1851	c.1386A>C	c.(1384-1386)gaA>gaC	p.E462D	PLCL2_ENST00000396755.2_Missense_Mutation_p.E462D|PLCL2_ENST00000432376.1_Missense_Mutation_p.E462D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	588	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACGAAGATGAAGGAGCAGAAA	0.433													36	24					0	0	0	0	C	17052602	A	C	17052602	3	2	415	1	0	0	0	0	1	0	0	0	12112	69	3	5	1764	5	PLCL2	3	17052602	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08		17052602	180969828	16	82679											
UPK1B	7348	broad.mit.edu	37	chr3	118905597	118905597	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatcccgaagatggccaaAgacaactcaactgttcgttg	14	8	9	10	2	1	2	1	0	0	2	3	4	2	2	2	1	2	2	2	1	5	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:118905597A>T	ENST00000264234.3	+	2	158	c.9A>T	c.(7-9)aaA>aaT	p.K3N	UPK1B_ENST00000497685.1_Intron|RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000460625.1_Missense_Mutation_p.K3N	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	3					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGATGGCCAAAGACAACTCAA	0.418													27	29					0	0	0	0	T	118905597	A	T	118905597	3	4	415	1	0	0	0	0	1	0	0	0	17104	69	3	5	11	5	UPK1B	3	118905597	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	101852995	118905597	79116833	17	82680											
MFSD7	84179	broad.mit.edu	37	chr4	678633	678634	+	Frame_Shift_Ins	INS	-	-	A																															acgacgccagcagggatggtINSatagacaccgagctggggag																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:678633_678634insA	ENST00000322224.4	-	5	910_911	c.597_598insT	c.(595-600)taccatfs	p.H200fs	MFSD7_ENST00000404286.2_Frame_Shift_Ins_p.H200fs|MFSD7_ENST00000503156.1_Frame_Shift_Ins_p.H136fs|MFSD7_ENST00000347950.5_Frame_Shift_Ins_p.H81fs|MFSD7_ENST00000515118.1_Frame_Shift_Ins_p.H103fs			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	200					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GCAGGGATGGTATAGACACCGA	0.683													12	14	---	---	---	---					A	678634	-	A	678633	7	5	415	1	0	1	1	0	0	0	0	0	9606	1638	57	0	1105	0	MFSD7	4	678633	Frame_Shift_Ins	INS	-	TCGA-HD-7753-01A-11D-2078-08		678633	190475643	18	82681											
DDX60	55601	broad.mit.edu	37	chr4	169188752	169188752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgatctgttgttagtgcaGcacatgggtgaaaatgatca	12	12	11	6	0	2	3	1	3	1	0	2	3	2	3	0	1	2	4	0	1	3	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:169188752G>A	ENST00000393743.3	-	22	3311	c.3020C>T	c.(3019-3021)gCt>gTt	p.A1007V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1007							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGTTAGTGCAGCACATGGGTG	0.289													19	42					0	0	0	0	A	169188752	G	A	169188752	3	1	415	1	0	0	0	0	1	0	0	0	4410	971	34	4	2186	4	DDX60	4	169188752	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	168510119	169188752	21965524	19	82682											
SORBS2	8470	broad.mit.edu	37	chr4	186545478	186545478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctgctccagatttctgCgttttgccgggccatttgcc	3	14	11	13	3	1	1	0	0	1	1	2	1	2	1	4	1	5	3	4	1	0	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:186545478C>A	ENST00000431808.1	-	14	1656	c.1093G>T	c.(1093-1095)Gca>Tca	p.A365S	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.A269S|SORBS2_ENST00000355634.5_Missense_Mutation_p.A465S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.A365S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	365						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGATTTCTGCGTTTTGCCGG	0.522													22	48					7.87624e-14	9.54908e-14	1	0	A	186545478	C	A	186545478	3	1	415	1	0	0	0	0	1	0	0	0	15016	768	27	3	2245	3	SORBS2	4	186545478	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	17356726	186545478	4608798	20	82683											
KLKB1	3818	broad.mit.edu	37	chr4	187179174	187179174	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttttccactgtgactcaGggagattcaggtggtccctt	7	15	10	9	0	2	2	2	1	0	1	4	3	4	2	2	3	0	0	2	3	1	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:187179174G>T	ENST00000264690.6	+	15	1912		c.e15-1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGTGACTCAGGGAGATTCAG	0.478													22	44					2.98393e-07	3.27039e-07	1	0	T	187179174	G	T	187179174	5	4	415	1	0	0	0	0	0	0	1	0	8464	1014	35	4	1779	4	KLKB1	4	187179174	Splice_Site	SNP	G	TCGA-HD-7753-01A-11D-2078-08	633696	187179174	3975102	21	82684											
IRX1	79192	broad.mit.edu	37	chr5	3601102	3601102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttcccatgcagctctcTggccccgcaggagggaacgc	6	8	13	14	2	1	0	0	0	1	0	3	2	2	2	3	3	3	4	3	3	1	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:3601102T>C	ENST00000302006.3	+	4	1443	c.1391T>C	c.(1390-1392)cTg>cCg	p.L464P		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	464						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAGCTCTCTGGCCCCGCAG	0.662													14	44					0	0	0	0	C	3601102	T	C	3601102	3	2	415	1	0	0	0	0	1	0	0	0	7896	1580	55	5	1405	5	IRX1	5	3601102	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08		3601102	177314158	22	82685											
PRDM9	56979	broad.mit.edu	37	chr5	23522415	23522415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcttctccaacctagaaCtcaggaagaaggagactgaa	15	8	8	10	0	3	4	1	1	2	3	4	6	3	5	2	2	3	0	2	2	7	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:23522415C>G	ENST00000296682.3	+	7	693	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	171					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAACCTAGAACTCAGGAAGAA	0.433										HNSCC(3;0.000094)			33	118					0	0	0	0	G	23522415	C	G	23522415	3	3	415	1	0	0	0	0	1	0	0	0	12543	565	20	4	533	4	PRDM9	5	23522415	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	19921313	23522415	157392845	23	82686											
CDH10	1008	broad.mit.edu	37	chr5	24505331	24505331	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgttaaagattctgtcaAggtcagtatggcgatccaag	13	11	11	6	1	3	1	2	0	1	1	4	3	4	1	1	2	0	2	1	2	6	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:24505331A>T	ENST00000264463.4	-	8	1790	c.1283T>A	c.(1282-1284)cTt>cAt	p.L428H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	428	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATTCTGTCAAGGTCAGTATG	0.358										HNSCC(23;0.051)			34	47					0	0	0	0	T	24505331	A	T	24505331	3	4	415	1	0	0	0	0	1	0	0	0	3125	72	3	5	1103	5	CDH10	5	24505331	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	982916	24505331	156409929	24	82687											
PDZD2	23037	broad.mit.edu	37	chr5	32098603	32098604	+	Frame_Shift_Ins	INS	-	-	ACAA																															ctgaaggttctgcaccaggcINSacagctgcacaaagatgccc																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:32098603_32098604insACAA	ENST00000438447.1	+	23	8469_8470	c.8081_8082insACAA	c.(8080-8082)gcafs	p.A2694fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.A2694fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2694	PDZ 5.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGCACCAGGCACAGCTGCACA	0.594													27	41	---	---	---	---					ACAA	32098604	-	ACAA	32098603	7	5	415	1	0	1	1	0	0	0	0	0	11772	710	25	0	8167	0	PDZD2	5	32098603	Frame_Shift_Ins	INS	-	TCGA-HD-7753-01A-11D-2078-08	7593272	32098603	148816657	25	82688											
PRKAA1	5562	broad.mit.edu	37	chr5	40767661	40767661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttaaatattgaggggtaTagaagatcccatcacatatc	15	12	8	6	0	1	3	1	1	0	2	3	4	2	3	1	2	0	1	1	2	7	7			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:40767661T>C	ENST00000397128.2	-	6	736	c.728A>G	c.(727-729)tAt>tGt	p.Y243C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.Y258C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	243	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTGAGGGGTATAGAAGATCCC	0.388													23	89					0	0	0	0	C	40767661	T	C	40767661	3	2	415	1	0	0	0	0	1	0	0	0	12573	1406	49	5	967	5	PRKAA1	5	40767661	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	8669058	40767661	140147599	26	82689											
PCDHA3	56145	broad.mit.edu	37	chr5	140182317	140182317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctacgtgtcggtacacgCggagagcggcaaggtgtacg	9	6	17	9	6	0	1	0	0	0	1	1	3	0	1	0	4	5	4	0	4	4	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:140182317C>A	ENST00000522353.2	+	1	1535	c.1535C>A	c.(1534-1536)gCg>gAg	p.A512E	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512E|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTACACGCGGAGAGCGGC	0.706													38	50					1.06647e-15	1.30452e-15	1	0	A	140182317	C	A	140182317	3	1	415	1	0	0	0	0	1	0	0	0	11596	768	27	3	1537	3	PCDHA3	5	140182317	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	99414656	140182317	40732943	27	82690											
ZNF354C	30832	broad.mit.edu	37	chr5	178505981	178505981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacacaacagagtgttcctaTagaaaggatacccaatatgt	16	9	7	9	0	0	2	0	0	0	2	1	3	1	3	2	1	2	1	2	1	7	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:178505981T>C	ENST00000315475.6	+	5	854	c.548T>C	c.(547-549)aTa>aCa	p.I183T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGTGTTCCTATAGAAAGGATA	0.358													29	43					0	0	0	0	C	178505981	T	C	178505981	3	2	415	1	0	0	0	0	1	0	0	0	17961	1406	49	5	562	5	ZNF354C	5	178505981	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	38323664	178505981	2409279	28	82691											
CAPN11	11131	broad.mit.edu	37	chr6	44148689	44148702	+	Frame_Shift_Del	DEL	GGGCTTTGGCCTGG	GGGCTTTGGCCTGG	-																															gtcaaaagcttcaagaccaaGggctttggcctggatgcttg																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr6:44148689_44148702delGGGCTTTGGCCTGG	ENST00000398776.1	+	18	1862_1875	c.1824_1837delGGGCTTTGGCCTGG	c.(1822-1839)aaatfs	p.KGFGLD608fs	CAPN11_ENST00000542245.1_Frame_Shift_Del_p.KGFGLD608fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	608	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAAGACCAAGGGCTTTGGCCTGGATGCTTGCCG	0.57													39	223	---	---	---	---					-	44148702	GGGCTTTGGCCTGG	-	44148689	7	5	415	1	0	1	0	1	0	0	0	0	2649	991	35	0	1894	0	CAPN11	6	44148689	Frame_Shift_Del	DEL	GGGCTTTGGCCTGG	TCGA-HD-7753-01A-11D-2078-08		44148689	126966378	29	82692											
FAM83B	222584	broad.mit.edu	37	chr6	54804723	54804723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcattagcatctgtttccagCcagagaaacctttttggtag	10	14	8	9	0	2	1	1	0	1	1	3	2	3	1	3	1	3	3	3	1	3	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr6:54804723C>G	ENST00000306858.7	+	5	1070	c.954C>G	c.(952-954)agC>agG	p.S318R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	318										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTGTTTCCAGCCAGAGAAACC	0.388													25	53					0	0	0	0	G	54804723	C	G	54804723	3	3	415	1	0	0	0	0	1	0	0	0	5680	738	26	4	968	4	FAM83B	6	54804723	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	10656034	54804723	116310344	30	82693											
ABCA13	154664	broad.mit.edu	37	chr7	48318540	48318540	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatagatcatttcacAtttgaaaagataaatgattt	21	13	4	3	0	2	4	2	2	0	2	2	4	2	4	0	0	0	0	0	0	8	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:48318540A>G	ENST00000435803.1	+	18	7773	c.7749A>G	c.(7747-7749)acA>acG	p.T2583T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2583					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCATTTCACATTTGAAAAGA	0.308													23	55					0	0	0	0	G	48318540	A	G	48318540	2	3	415	1	0	0	0	0	0	0	0	1	31	204	8	5		5	ABCA13	7	48318540	Silent	SNP	A	TCGA-HD-7753-01A-11D-2078-08		48318540	110820123	31	82694											
PLXNA4	91584	broad.mit.edu	37	chr7	132169702	132169702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgagaagcaatgttcGccccaggtgggtctccctcc	6	10	11	14	1	1	1	0	1	1	1	5	2	3	1	5	2	1	3	5	2	2	2	rs112214523	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:132169702G>T	ENST00000378539.5	-	5	1818	c.1442C>A	c.(1441-1443)gCg>gAg	p.A481E	PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	0	Sema.					integral to membrane|intracellular|plasma membrane		p.A481V(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCAATGTTCGCCCCAGGTGG	0.483													33	55					9.78485e-24	1.26465e-23	1	0	T	132169702	G	T	132169702	3	4	415	1	0	0	0	0	1	0	0	0	12194	1087	38	3	4672	3	PLXNA4	7	132169702	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	83851162	132169702	26968961	32	82695											
PARP12	64761	broad.mit.edu	37	chr7	139737556	139737556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgctttccggcctggaacTtcaaggtggctgcctggccg	4	11	14	12	2	1	0	1	0	0	0	2	1	2	1	4	5	3	2	4	5	2	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:139737556T>C	ENST00000263549.3	-	7	2156	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	428	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCCTGGAACTTCAAGGTGGC	0.602													16	37					0	0	0	0	C	139737556	T	C	139737556	3	2	415	1	0	0	0	0	1	0	0	0	11528	1609	56	5	846	5	PARP12	7	139737556	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	7567854	139737556	19401107	33	82696											
OR2A2	442361	broad.mit.edu	37	chr7	143806912	143806912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaacaatgttcccaaGatgttggcaaacctaatgaa	14	10	7	10	0	0	2	0	1	0	1	2	2	2	2	3	1	2	4	3	1	6	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:143806912G>T	ENST00000408979.2	+	1	306	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGTTCCCAAGATGTTGGCAA	0.433													35	221					6.97489e-18	8.6869e-18	1	0	T	143806912	G	T	143806912	3	4	415	1	0	0	0	0	1	0	0	0	11048	933	33	2	239	2	OR2A2	7	143806912	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	4069356	143806912	15331751	34	82697											
CNTNAP2	26047	broad.mit.edu	37	chr7	146825855	146825855	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatttcaaaggctgcaTggaaagcatcaactacaatg	18	8	8	7	0	2	1	2	0	0	1	2	2	2	2	0	2	4	3	0	2	7	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:146825855T>G	ENST00000361727.3	+	7	1526	c.1010T>G	c.(1009-1011)aTg>aGg	p.M337R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	337	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGGCTGCATGGAAAGCATC	0.408										HNSCC(39;0.1)			34	94					0	0	0	0	G	146825855	T	G	146825855	3	3	415	1	0	0	0	0	1	0	0	0	3677	1464	51	5	1036	5	CNTNAP2	7	146825855	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	3018943	146825855	12312808	35	82698											
SMARCD3	6604	broad.mit.edu	37	chr7	150936506	150936506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtagaagtagcgactgacGgcctcctgggaccagggctg	9	6	15	11	2	0	2	0	1	0	1	1	4	1	3	3	3	1	3	3	3	3	2	rs139287814		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:150936506G>A	ENST00000392811.2	-	13	1809	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	SMARCD3_ENST00000262188.8_Silent_p.A458A|SMARCD3_ENST00000356800.2_Silent_p.A445A	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	458					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGACTGACGGCCTCCTGGG	0.612													22	54					0	0	0	0	A	150936506	G	A	150936506	2	1	415	1	0	0	0	0	0	0	0	1	14867	1103	39	1		1	SMARCD3	7	150936506	Silent	SNP	G	TCGA-HD-7753-01A-11D-2078-08	4110651	150936506	8202157	36	82699											
DPP6	1804	broad.mit.edu	37	chr7	154585880	154585880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacgtgtccatcctcaccCtctgcgacgccaccacgggg	8	6	10	17	4	2	1	1	0	1	1	4	2	4	1	5	2	2	0	5	2	1	0			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:154585880C>G	ENST00000404039.1	+	11	1623	c.1036C>G	c.(1036-1038)Ctc>Gtc	p.L346V	DPP6_ENST00000377770.3_Missense_Mutation_p.L410V|DPP6_ENST00000332007.3_Missense_Mutation_p.L348V|DPP6_ENST00000427557.1_Missense_Mutation_p.L303V	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	410					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATCCTCACCCTCTGCGACGC	0.657													6	18					0	0	0	0	G	154585880	C	G	154585880	3	3	415	1	0	0	0	0	1	0	0	0	4766	681	24	4	1386	4	DPP6	7	154585880	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	3649374	154585880	4552783	37	82700											
CSMD1	64478	broad.mit.edu	37	chr8	2832027	2832027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctggcacactctcgTgtcgttgcctatgaggctct	4	14	10	13	2	3	1	0	1	3	0	6	1	4	1	2	2	1	3	2	2	1	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:2832027T>C	ENST00000602557.1	-	57	9244	c.8689A>G	c.(8689-8691)Acg>Gcg	p.T2897A	CSMD1_ENST00000400186.3_Missense_Mutation_p.T2839A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2838A|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2897A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2896A|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2839A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2897	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACTCTCGTGTCGTTGCCT	0.572													8	8					0	0	0	0	C	2832027	T	C	2832027	3	2	415	1	0	0	0	0	1	0	0	0	3976	1696	59	5	2068	5	CSMD1	8	2832027	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08		2832027	143531995	38	82701											
RBPMS	11030	broad.mit.edu	37	chr8	30402239	30402239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaactaacacctatccagCtaacagatccaccctcaaga	16	7	3	15	0	1	2	1	0	0	2	3	2	3	2	4	0	5	1	4	0	6	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:30402239C>A	ENST00000520191.1	+	6	744	c.314C>A	c.(313-315)gCt>gAt	p.A105D	RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000517860.1_Missense_Mutation_p.A209D|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000520161.1_Intron			Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		ACCTATCCAGCTAACAGATCC	0.478													15	22					1.05317e-09	1.21247e-09	1	0	A	30402239	C	A	30402239	3	1	415	1	0	0	0	0	1	0	0	0	13245	812	28	4		4	RBPMS	8	30402239	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	27570212	30402239	115961783	39	82702											
CYP7A1	1581	broad.mit.edu	37	chr8	59409370	59409370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctctgccagtttctcccggGcattgtgcgcagtcctgaac	5	12	10	14	2	2	1	0	1	2	0	5	1	3	1	3	1	3	3	3	1	1	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:59409370G>T	ENST00000301645.3	-	3	838	c.701C>A	c.(700-702)gCc>gAc	p.A234D		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	234					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTTCTCCCGGGCATTGTGCGC	0.488									Neonatal Giant Cell Hepatitis				33	103					2.85442e-18	3.58766e-18	1	0	T	59409370	G	T	59409370	3	4	415	1	0	0	0	0	1	0	0	0	4228	1203	42	4	829	4	CYP7A1	8	59409370	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	29007131	59409370	86954652	40	82703											
TRHR	7201	broad.mit.edu	37	chr8	110131301	110131301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagatgctggcagtggttGtaattctgtttgccctttta	7	16	10	8	0	1	1	0	0	1	1	1	1	1	1	2	2	2	5	2	2	3	6			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:110131301G>T	ENST00000518632.1	+	3	1165	c.814G>T	c.(814-816)Gta>Tta	p.V272L	TRHR_ENST00000311762.2_Missense_Mutation_p.V272L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	272						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGCAGTGGTTGTAATTCTGTT	0.413													192	175					1.42079e-92	1.88979e-92	1	0	T	110131301	G	T	110131301	3	4	415	1	0	0	0	0	1	0	0	0	16575	1377	48	4	820	4	TRHR	8	110131301	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	50721931	110131301	36232721	41	82704											
CSMD3	114788	broad.mit.edu	37	chr8	113569097	113569119	+	Frame_Shift_Del	DEL	TGGTGCTACCAGCAAAGTGGCCT	TGGTGCTACCAGCAAAGTGGCCT	-																															tggattgcatccataaatgaTggtgctaccagcaaagtggc																								rs145750770	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT	ENST00000297405.5	-	25	4351_4373	c.4107_4129delAGGCCACTTTGCTGGTAGCACCA	c.(4105-4131)catcfs	p.QGHFAGSTI1369fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.QGHFAGSTI1369fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.QGHFAGSTI1265fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.QGHFAGSTI1329fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7.					integral to membrane|plasma membrane		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGA	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	45	---	---	---	---					-	113569119	TGGTGCTACCAGCAAAGTGGCCT	-	113569097	7	5	415	1	0	1	0	1	0	0	0	0	3978	1464	51	0	7182	0	CSMD3	8	113569097	Frame_Shift_Del	DEL	TGGTGCTACCAGCAAAGTGGCCT	TCGA-HD-7753-01A-11D-2078-08	3437796	113569097	32794925	42	82705											
KDM4C	23081	broad.mit.edu	37	chr9	6986506	6986506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagacccatccgagctttCatggccaaagtcacctgagt	11	9	8	13	1	3	2	3	1	0	1	4	3	4	2	4	1	1	1	4	1	1	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:6986506C>T	ENST00000381309.3	+	11	2082	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	KDM4C_ENST00000381306.3_Missense_Mutation_p.S506L|KDM4C_ENST00000442236.2_Missense_Mutation_p.S325L|KDM4C_ENST00000428870.2_Missense_Mutation_p.S193L|KDM4C_ENST00000543771.1_Missense_Mutation_p.S506L|KDM4C_ENST00000535193.1_Missense_Mutation_p.S528L|KDM4C_ENST00000536108.1_Missense_Mutation_p.S325L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	506					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCCGAGCTTTCATGGCCAAAG	0.478													27	31					0	0	0	0	T	6986506	C	T	6986506	3	4	415	1	0	0	0	0	1	0	0	0	8183	838	29	2	1625	2	KDM4C	9	6986506	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08		6986506	134226925	43	82706											
VPS13A	23230	broad.mit.edu	37	chr9	79898351	79898351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttacagatctttattcaaGatcagaaatgtaacatttct	14	16	5	6	0	4	3	2	0	2	3	4	3	4	3	0	0	2	2	0	0	5	7			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:79898351G>C	ENST00000360280.3	+	30	3459	c.3199G>C	c.(3199-3201)Gat>Cat	p.D1067H	VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1067H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.D1067H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1067					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTATTCAAGATCAGAAATG	0.254													12	23					0	0	0	0	C	79898351	G	C	79898351	3	2	415	1	0	0	0	0	1	0	0	0	17285	942	33	2	3317	2	VPS13A	9	79898351	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	72911845	79898351	61315080	44	82707											
KIF27	55582	broad.mit.edu	37	chr9	86518343	86518343	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagcttctcgaagcaattTaatctcaaattccatttcat	14	14	3	10	1	3	0	2	0	2	0	6	1	4	0	1	0	2	2	1	0	5	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:86518343T>G	ENST00000297814.2	-	4	1233	c.1090A>C	c.(1090-1092)Aaa>Caa	p.K364Q	KIF27_ENST00000334204.2_Missense_Mutation_p.K364Q|KIF27_ENST00000413982.1_Missense_Mutation_p.K364Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	364					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CGAAGCAATTTAATCTCAAAT	0.433													30	85					0	0	0	0	G	86518343	T	G	86518343	3	3	415	1	0	0	0	0	1	0	0	0	8347	1763	61	5	3175	5	KIF27	9	86518343	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	6619992	86518343	54695088	45	82708											
SAMD8	142891	broad.mit.edu	37	chr10	76910800	76910800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacatctttcattatggttAtagtccatgagcgagtgcct	9	16	8	8	1	2	1	1	1	1	0	3	2	3	1	2	1	3	1	2	1	4	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:76910800A>G	ENST00000542569.1	+	2	617	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SAMD8_ENST00000372687.3_Missense_Mutation_p.I172V|SAMD8_ENST00000372690.3_Missense_Mutation_p.I235V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	172					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CATTATGGTTATAGTCCATGA	0.368													15	47					0	0	0	0	G	76910800	A	G	76910800	3	3	415	1	0	0	0	0	1	0	0	0	13910	449	16	5	516	5	SAMD8	10	76910800	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08		76910800	58623947	46	82709											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798612	119798612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcacaagggctatcagatCccccattgttaagtttatca	12	12	7	10	0	3	1	3	0	0	1	4	1	4	1	2	1	0	3	2	1	4	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:119798612C>T	ENST00000355624.3	-	3	1575	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.G379E	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	379					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GCTATCAGATCCCCCATTGTT	0.353													23	101					0	0	0	0	T	119798612	C	T	119798612	3	4	415	1	0	0	0	0	1	0	0	0	12976	855	30	2	414	2	RAB11FIP2	10	119798612	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	42887812	119798612	15736135	47	82710											
FAM53B	9679	broad.mit.edu	37	chr10	126370453	126370453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcaggtcagggctccagGtgtcacctgcctgtccacac	6	8	13	14	0	2	0	2	0	0	0	4	0	4	0	4	4	2	2	4	4	0	0			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:126370453G>C	ENST00000337318.3	-	4	840	c.629C>G	c.(628-630)aCc>aGc	p.T210S	FAM53B_ENST00000280780.6_Missense_Mutation_p.T210S|FAM53B_ENST00000392754.3_Missense_Mutation_p.T210S|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	210										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGGCTCCAGGTGTCACCTGC	0.642													3	15					0	0	0	0	C	126370453	G	C	126370453	3	2	415	1	0	0	0	0	1	0	0	0	5627	1261	44	4	647	4	FAM53B	10	126370453	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	6571841	126370453	9164294	48	82711											
LRRC27	80313	broad.mit.edu	37	chr10	134147162	134147162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttggaggcatcatcttttCctcctcaccgattttagact	7	16	7	11	1	3	1	2	0	1	1	5	3	5	2	3	2	0	2	3	2	1	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:134147162C>T	ENST00000392638.2	+	2	329	c.134C>T	c.(133-135)tCc>tTc	p.S45F	LRRC27_ENST00000368614.3_Missense_Mutation_p.S45F|LRRC27_ENST00000344079.5_Missense_Mutation_p.S45F|LRRC27_ENST00000356571.4_Missense_Mutation_p.S45F|LRRC27_ENST00000368613.4_Missense_Mutation_p.S45F|LRRC27_ENST00000368615.3_Missense_Mutation_p.S45F			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	45										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ATCATCTTTTCCTCCTCACCG	0.542													6	33					0	0	0	0	T	134147162	C	T	134147162	3	4	415	1	0	0	0	0	1	0	0	0	9045	855	30	2	136	2	LRRC27	10	134147162	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	7776709	134147162	1387585	49	82712											
LGR4	55366	broad.mit.edu	37	chr11	27390526	27390527	+	Frame_Shift_Ins	INS	-	-	AGAAATCA																															cccatgaataagttagacacINSagaaatcaagcctataaaca																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:27390526_27390527insAGAAATCA	ENST00000379214.4	-	18	2186_2187	c.1743_1744insTGATTTCT	c.(1741-1746)tctgtcfs	p.V582fs	LGR4_ENST00000389858.4_Frame_Shift_Ins_p.V558fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	582						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAGTTAGACACAGAAATCAAGC	0.386													13	49	---	---	---	---					AGAAATCA	27390527	-	AGAAATCA	27390526	7	5	415	1	0	1	1	0	0	0	0	0	8810	478	17	0	1115	0	LGR4	11	27390526	Frame_Shift_Ins	INS	-	TCGA-HD-7753-01A-11D-2078-08		27390526	107615990	50	82713											
FOLH1	2346	broad.mit.edu	37	chr11	49227672	49227672	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatccaaaaatgctttcatAttatgctttggagtaatgtt	12	17	6	6	0	2	0	2	0	0	0	3	1	3	1	1	1	2	4	1	1	5	6			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:49227672A>G	ENST00000340334.7	-	3	494	c.126T>C	c.(124-126)aaT>aaC	p.N42N	FOLH1_ENST00000256999.2_Silent_p.N57N|FOLH1_ENST00000356696.3_Silent_p.N57N|FOLH1_ENST00000533034.1_Silent_p.N42N|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	57					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATGCTTTCATATTATGCTTTG	0.323													24	34					0	0	0	0	G	49227672	A	G	49227672	2	3	415	1	0	0	0	0	0	0	0	1	6024	446	16	5		5	FOLH1	11	49227672	Silent	SNP	A	TCGA-HD-7753-01A-11D-2078-08	21837146	49227672	85778844	51	82714											
DAGLA	747	broad.mit.edu	37	chr11	61511763	61511763	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccccacggctctttgcCggctcagccgacccctcctc	5	7	8	21	3	2	0	1	0	1	0	4	1	3	0	7	2	3	2	7	2	1	1	rs145101853		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:61511763C>G	ENST00000257215.5	+	20	3047	c.2931C>G	c.(2929-2931)gcC>gcG	p.A977A		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	977					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCTCTTTGCCGGCTCAGCCG	0.677													19	64					0	0	0	0	G	61511763	C	G	61511763	2	3	415	1	0	0	0	0	0	0	0	1	4259	639	23	3		3	DAGLA	11	61511763	Silent	SNP	C	TCGA-HD-7753-01A-11D-2078-08	12284091	61511763	73494753	52	82715											
B3GNT1	11041	broad.mit.edu	37	chr11	66113556	66113556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagttggggtacttggccttCaactcctgtttgaactggcg	6	13	13	9	1	1	1	1	1	0	0	2	2	2	1	2	4	3	3	2	4	3	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:66113556C>G	ENST00000311181.4	-	2	1358	c.1212G>C	c.(1210-1212)ttG>ttC	p.L404F		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	404					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						ACTTGGCCTTCAACTCCTGTT	0.512													24	155					0	0	0	0	G	66113556	C	G	66113556	3	3	415	1	0	0	0	0	1	0	0	0	1260	825	29	2	39	2	B3GNT1	11	66113556	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	4601793	66113556	68892960	53	82716											
VWA5A	4013	broad.mit.edu	37	chr11	124007741	124007741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaccattcaccgccttGctgccaagtccttgctccag	6	10	7	18	1	2	0	2	0	0	0	4	0	4	0	7	0	3	2	7	0	1	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:124007741G>T	ENST00000456829.2	+	15	1896	c.1645G>T	c.(1645-1647)Gct>Tct	p.A549S	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.A549S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	549										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCACCGCCTTGCTGCCAAGTC	0.453													23	48					4.26978e-12	5.0866e-12	1	0	T	124007741	G	T	124007741	3	4	415	1	0	0	0	0	1	0	0	0	17338	1319	46	4	1699	4	VWA5A	11	124007741	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	57894185	124007741	10998775	54	82717											
CD163	9332	broad.mit.edu	37	chr12	7639150	7639150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttgctgcccccagccGtgtgaatggcactgccaaat	9	10	9	13	1	0	1	0	1	0	0	0	1	0	1	4	1	4	2	4	1	3	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:7639150G>A	ENST00000359156.4	-	10	2605	c.2403C>T	c.(2401-2403)caC>caT	p.H801H	CD163_ENST00000432237.2_Silent_p.H801H|CD163_ENST00000396620.3_Silent_p.H834H|CD163_ENST00000541972.1_Silent_p.H789H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	801	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCCCCAGCCGTGTGAATGGC	0.483													52	131					0	0	0	0	A	7639150	G	A	7639150	2	1	415	1	0	0	0	0	0	0	0	1	2996	1136	40	1		1	CD163	12	7639150	Silent	SNP	G	TCGA-HD-7753-01A-11D-2078-08		7639150	126212745	55	82718											
TMEM117	84216	broad.mit.edu	37	chr12	44605082	44605082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgcttcaggtcactgatAtgatgcttcaggacaaaccc	11	11	8	11	0	3	2	3	2	0	0	3	3	3	3	1	2	3	2	1	2	2	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:44605082A>G	ENST00000266534.3	+	5	647	c.520A>G	c.(520-522)Atg>Gtg	p.M174V	TMEM117_ENST00000551577.1_Missense_Mutation_p.M174V|TMEM117_ENST00000536799.1_Missense_Mutation_p.M70V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	174						endoplasmic reticulum|integral to membrane		p.M174L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGTCACTGATATGATGCTTCA	0.353													14	67					0	0	0	0	G	44605082	A	G	44605082	3	3	415	1	0	0	0	0	1	0	0	0	16125	449	16	5	534	5	TMEM117	12	44605082	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	36965932	44605082	89246813	56	82719											
ERBB3	2065	broad.mit.edu	37	chr12	56481413	56481413	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctggggtcctggatcagaAgactgccagacatgtgggtt	8	10	15	8	0	1	3	1	0	0	3	2	4	2	4	2	4	2	2	2	4	1	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:56481413A>T	ENST00000267101.3	+	5	1040	c.600A>T	c.(598-600)gaA>gaT	p.E200D	ERBB3_ENST00000415288.2_Missense_Mutation_p.E141D|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	200					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGATCAGAAGACTGCCAGA	0.552													18	59					0	0	0	0	T	56481413	A	T	56481413	3	4	415	1	0	0	0	0	1	0	0	0	5246	69	3	5	749	5	ERBB3	12	56481413	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	11876331	56481413	77370482	57	82720											
MED13L	23389	broad.mit.edu	37	chr12	116421091	116421091	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagtgcttatctggctaaTaccaggagcagaggcagacg	11	8	14	8	1	1	2	0	0	1	2	1	3	1	3	1	4	3	5	1	4	4	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:116421091T>C	ENST00000281928.3	-	21	4992	c.4786A>G	c.(4786-4788)Att>Gtt	p.I1596V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1596	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCTGGCTAATACCAGGAGCA	0.512													15	47					0	0	0	0	C	116421091	T	C	116421091	3	2	415	1	0	0	0	0	1	0	0	0	9500	1406	49	5	1890	5	MED13L	12	116421091	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	59939678	116421091	17430804	58	82721											
GCN1L1	10985	broad.mit.edu	37	chr12	120584869	120584869	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctaccttctggtctgtcAgggagtacatgttgccaata	8	12	10	11	1	3	0	1	0	2	0	3	1	3	1	3	2	3	3	3	2	4	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:120584869A>C	ENST00000300648.6	-	38	4946	c.4934T>G	c.(4933-4935)cTg>cGg	p.L1645R		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1645					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGTCTGTCAGGGAGTACAT	0.557													8	13					0	0	0	0	C	120584869	A	C	120584869	3	2	415	1	0	0	0	0	1	0	0	0	6348	188	7	5	3165	5	GCN1L1	12	120584869	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	4163778	120584869	13267026	59	82722											
KNTC1	9735	broad.mit.edu	37	chr12	123095404	123095404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtctcgtccaattgattAtagttcaagaatgctgtttg	9	16	8	8	1	2	2	1	1	1	1	4	2	3	2	2	0	1	3	2	0	5	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:123095404A>G	ENST00000333479.7	+	53	5756	c.5579A>G	c.(5578-5580)tAt>tGt	p.Y1860C	KNTC1_ENST00000450485.2_Missense_Mutation_p.Y785C|KNTC1_ENST00000537348.1_Missense_Mutation_p.Y285C|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1860					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCAATTGATTATAGTTCAAGA	0.328													15	34					0	0	0	0	G	123095404	A	G	123095404	3	3	415	1	0	0	0	0	1	0	0	0	8480	449	16	5	5785	5	KNTC1	12	123095404	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	2510535	123095404	10756491	60	82723											
MTUS2	23281	broad.mit.edu	37	chr13	29600957	29600957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacctgcagaagccaaggGtcttcagttccggattgatg	10	9	12	10	1	2	3	1	1	1	2	3	4	3	4	3	2	2	2	3	2	2	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:29600957G>A	ENST00000431530.3	+	1	2210	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	708	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAGCCAAGGGTCTTCAGTTC	0.493													19	23					0	0	0	0	A	29600957	G	A	29600957	3	1	415	1	0	0	0	0	1	0	0	0	10036	1261	44	4	2154	4	MTUS2	13	29600957	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08		29600957	85568921	61	82724											
SPG20	23111	broad.mit.edu	37	chr13	36909740	36909740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcattttctgttgcatCtgtctagcagattcccaccc	6	17	5	13	0	5	1	1	0	4	1	6	1	6	1	2	0	2	3	2	0	1	6			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:36909740C>A	ENST00000451493.1	-	2	445	c.228G>T	c.(226-228)caG>caT	p.Q76H	SPG20_ENST00000355182.4_Missense_Mutation_p.Q76H|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.Q76H|SPG20_ENST00000438666.2_Missense_Mutation_p.Q76H	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	76	MIT.				cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTGTTGCATCTGTCTAGCAG	0.453													45	44					3.77016e-25	4.91916e-25	1	0	A	36909740	C	A	36909740	3	1	415	1	0	0	0	0	1	0	0	0	15132	912	32	2	1804	2	SPG20	13	36909740	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	7308783	36909740	78260138	62	82725											
PCDH8	5100	broad.mit.edu	37	chr13	53421763	53421763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcgtcggggtcggctGcgtccaggtcgagaagcagg	5	7	17	12	5	0	1	0	0	0	1	6	2	2	1	2	5	2	2	2	5	1	0			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:53421763G>C	ENST00000377942.3	-	1	1012	c.809C>G	c.(808-810)gCa>gGa	p.A270G	PCDH8_ENST00000338862.4_Missense_Mutation_p.A270G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	270	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGGTCGGCTGCGTCCAGGTC	0.711													4	4					0	0	0	0	C	53421763	G	C	53421763	3	2	415	1	0	0	0	0	1	0	0	0	11588	1319	46	4	2415	4	PCDH8	13	53421763	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	16512023	53421763	61748115	63	82726											
SLITRK5	26050	broad.mit.edu	37	chr13	88328847	88328847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgaaagatcgagagcatcGctgaactgcagcccaagccc	13	4	11	13	3	0	3	0	1	0	2	2	5	0	3	2	0	6	3	2	0	3	0			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:88328847G>T	ENST00000325089.6	+	2	1423	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A161S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	402	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGAGAGCATCGCTGAACTGCA	0.567													18	19					1.67942e-08	1.8859e-08	1	0	T	88328847	G	T	88328847	3	4	415	1	0	0	0	0	1	0	0	0	14834	1087	38	3	1206	3	SLITRK5	13	88328847	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	34907084	88328847	26841031	64	82727											
COQ6	51004	broad.mit.edu	37	chr14	74428218	74428218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaacatgggctttggggaTatctccagcttggcccatca	8	11	11	11	0	3	0	2	0	1	0	4	1	3	1	2	4	2	2	2	4	2	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr14:74428218T>A	ENST00000334571.2	+	10	1195	c.1155T>A	c.(1153-1155)gaT>gaA	p.D385E	ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.D360E|COQ6_ENST00000557780.1_3'UTR|COQ6_ENST00000238709.4_Missense_Mutation_p.D310E|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	385					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCTTTGGGGATATCTCCAGCT	0.512													14	33					0	0	0	0	A	74428218	T	A	74428218	3	1	415	1	0	0	0	0	1	0	0	0	3779	1403	49	5	1193	5	COQ6	14	74428218	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08		74428218	32921322	65	82728											
HERC2	8924	broad.mit.edu	37	chr15	28446658	28446659	+	Frame_Shift_Ins	INS	-	-	T																															ttactcaagaaatcagctcgINSttttttgtacgtctggctct																								rs61756159	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:28446658_28446659insT	ENST00000261609.7	-	48	7767_7768	c.7659_7660insA	c.(7657-7662)aagagcfs	p.S2554fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2554					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R2554*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAATCAGCTCGTTTTTTGTACG	0.376													43	68	---	---	---	---					T	28446659	-	T	28446658	7	5	415	1	0	1	1	0	0	0	0	0	7108	1153	40	0	7028	0	HERC2	15	28446658	Frame_Shift_Ins	INS	-	TCGA-HD-7753-01A-11D-2078-08		28446658	74084734	66	82729											
TRPM7	54822	broad.mit.edu	37	chr15	50935734	50935734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacttcaggtttggtgtcaTatgatagcctcacatactag	10	14	9	8	0	3	2	3	2	0	0	3	2	3	2	1	2	2	1	1	2	4	6			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:50935734T>C	ENST00000313478.7	-	5	619	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y113C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	113					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTGGTGTCATATGATAGCCT	0.338													16	63					0	0	0	0	C	50935734	T	C	50935734	3	2	415	1	0	0	0	0	1	0	0	0	16686	1406	49	5	5399	5	TRPM7	15	50935734	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	22489076	50935734	51595658	67	82730											
IQCH	64799	broad.mit.edu	37	chr15	67786666	67786666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcatcatccatcaagaaAtatcagcacctaatatgcaa	16	11	3	11	0	5	1	4	0	1	1	6	1	6	1	2	0	2	2	2	0	6	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:67786666A>G	ENST00000335894.4	+	20	2998	c.2932A>G	c.(2932-2934)Ata>Gta	p.I978V	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.I635V|IQCH_ENST00000360277.4_Missense_Mutation_p.N618S|IQCH_ENST00000358767.3_Missense_Mutation_p.N693S	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	978										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCATCAAGAAATATCAGCACC	0.398													8	30					0	0	0	0	G	67786666	A	G	67786666	3	3	415	1	0	0	0	0	1	0	0	0	7864	101	4	5	3138	5	IQCH	15	67786666	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	16850932	67786666	34744726	68	82731											
MESDC2	23184	broad.mit.edu	37	chr15	81282115	81282115	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaccacggccttgcgcgcCcacctggaagccgccatttt	7	7	11	16	4	0	0	0	0	0	0	0	2	0	2	6	3	2	0	6	3	1	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:81282115C>T	ENST00000261758.4	-	1	104	c.18G>A	c.(16-18)tgG>tgA	p.W6*		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	6	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CCTTGCGCGCCCACCTGGAAG	0.711													3	11					0	0	0	0	T	81282115	C	T	81282115	4	4	415	1	0	0	0	0	0	1	0	0	9550	624	22	4	698	4	MESDC2	15	81282115	Nonsense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	13495449	81282115	21249277	69	82732											
SLCO3A1	28232	broad.mit.edu	37	chr15	92671678	92671678	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtggggcagatggcAtcacctacctgtctgcctgc	6	10	13	12	0	2	1	1	0	1	1	2	1	2	1	3	3	3	2	3	3	1	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:92671678A>T	ENST00000318445.6	+	7	1685	c.1471A>T	c.(1471-1473)Atc>Ttc	p.I491F	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.I491F|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	491	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCAGATGGCATCACCTACCT	0.567													26	66					0	0	0	0	T	92671678	A	T	92671678	3	4	415	1	0	0	0	0	1	0	0	0	14816	217	8	5	1497	5	SLCO3A1	15	92671678	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	11389563	92671678	9859714	70	82733											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007600	93007600	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactgactgtcggccagtgCgatggggccacgtagggtgg	8	7	17	9	3	0	1	0	1	0	0	1	2	0	1	2	5	2	1	2	5	2	1	rs113311093		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:93007600C>T	ENST00000268164.3	+	6	1350	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C	ST8SIA2_ENST00000539113.1_Silent_p.C350C	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	371					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCGGCCAGTGCGATGGGGCCA	0.597													26	59					0	0	0	0	T	93007600	C	T	93007600	2	4	415	1	0	0	0	0	0	0	0	1	15322	776	27	1		1	ST8SIA2	15	93007600	Silent	SNP	C	TCGA-HD-7753-01A-11D-2078-08	335922	93007600	9523792	71	82734											
VASN	114990	broad.mit.edu	37	chr16	4432380	4432381	+	Frame_Shift_Ins	INS	-	-	A																															cgtctcacctatcgcaacctINSatcgggccctgataagcggc																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:4432380_4432381insA	ENST00000304735.3	+	2	1657_1658	c.1502_1503insA	c.(1501-1503)ctcfs	p.L501fs	CORO7_ENST00000574025.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000423908.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	501	Fibronectin type-III.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						TATCGCAACCTATCGGGCCCTG	0.668													11	18	---	---	---	---					A	4432381	-	A	4432380	7	5	415	1	0	1	1	0	0	0	0	0	17223	1522	53	0	1504	0	VASN	16	4432380	Frame_Shift_Ins	INS	-	TCGA-HD-7753-01A-11D-2078-08		4432380	85922373	72	82735											
DNAH3	55567	broad.mit.edu	37	chr16	21078616	21078616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggatacctggggaagaatAgtctcttcttctccaagtaa	11	12	9	9	0	3	1	0	0	3	1	5	3	3	3	2	3	1	1	2	3	6	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:21078616A>G	ENST00000261383.3	-	24	3505	c.3506T>C	c.(3505-3507)cTa>cCa	p.L1169P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1169P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1169	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGAAGAATAGTCTCTTCTT	0.438													18	27					0	0	0	0	G	21078616	A	G	21078616	3	3	415	1	0	0	0	0	1	0	0	0	4640	420	15	5	8999	5	DNAH3	16	21078616	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	16646236	21078616	69276137	73	82736											
CHD9	80205	broad.mit.edu	37	chr16	53358379	53358379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcagaaggaaaaacagaaAggacagagagccaaagttca	21	3	11	6	0	2	3	2	0	0	3	2	6	2	5	1	2	2	1	1	2	5	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:53358379A>G	ENST00000566029.1	+	39	8427	c.8218A>G	c.(8218-8220)Agg>Ggg	p.R2740G	CHD9_ENST00000564845.1_Missense_Mutation_p.R2740G|CHD9_ENST00000447540.1_Missense_Mutation_p.R2741G|CHD9_ENST00000398510.3_Missense_Mutation_p.R2756G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2756					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAAACAGAAAGGACAGAGAG	0.463													15	33					0	0	0	0	G	53358379	A	G	53358379	3	3	415	1	0	0	0	0	1	0	0	0	3361	63	3	5	8368	5	CHD9	16	53358379	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	32279763	53358379	36996374	74	82737											
ZZEF1	23140	broad.mit.edu	37	chr17	3921231	3921231	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgagccagggaccgtaTcctttcatctgtggtgagct	6	11	12	12	2	2	2	1	2	1	0	3	3	3	3	4	2	2	3	4	2	1	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:3921231T>A	ENST00000381638.2	-	47	7664	c.7540A>T	c.(7540-7542)Ata>Tta	p.I2514L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2514							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGACCGTATCCTTTCATCT	0.507													11	41					0	0	0	0	A	3921231	T	A	3921231	3	1	415	1	0	0	0	0	1	0	0	0	18346	1435	50	5	1381	5	ZZEF1	17	3921231	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08		3921231	77273979	75	82738											
MYBBP1A	10514	broad.mit.edu	37	chr17	4447915	4447915	+	Frame_Shift_Del	DEL	C	C	-																															gcattctcgggctgcttggtCactagcacctccaccaggtc																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:4447915delC	ENST00000254718.4	-	19	2814	c.2508delG	c.(2506-2508)gtfs	p.V836fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.V836fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	836					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCTGCTTGGTCACTAGCACCT	0.692													2	4	---	---	---	---					-	4447915	C	-	4447915	7	5	415	1	0	1	0	1	0	0	0	0	10078	813	29	0	1550	0	MYBBP1A	17	4447915	Frame_Shift_Del	DEL	C	TCGA-HD-7753-01A-11D-2078-08	526684	4447915	76747295	76	82739											
USP6	9098	broad.mit.edu	37	chr17	5042664	5042664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagcccagttccagcGgcccatttgctcagcttccc	6	8	7	20	1	1	0	1	0	0	0	3	0	3	0	6	1	4	3	6	1	0	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:5042664G>A	ENST00000574788.1	+	22	3423	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	USP6_ENST00000304328.5_Missense_Mutation_p.R81Q|USP6_ENST00000332776.4_Missense_Mutation_p.R398Q|USP6_ENST00000250066.6_Missense_Mutation_p.R398Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	398					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGTTCCAGCGGCCCATTTGC	0.657			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								6	44					0	0	0	0	A	5042664	G	A	5042664	3	1	415	1	0	0	0	0	1	0	0	0	17182	1116	39	1	1243	1	USP6	17	5042664	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	594749	5042664	76152546	77	82740											
TP53	7157	broad.mit.edu	37	chr17	7577115	7577116	+	In_Frame_Ins	INS	-	-	AAC																															tctctcccaggacaggcacaINSaacacgcacctcaaagctgt																										TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:7577115_7577116insAAC	ENST00000420246.2	-	8	954_955	c.822_823insGTT	c.(820-825)gtgtgc>gtGTTgtgc	p.274_275VC>VLC	TP53_ENST00000445888.2_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000455263.2_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000269305.4_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Ins_p.274_275VC>VLC	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C275G(7)|p.C275R(7)|p.V274V(3)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GGACAGGCACAAACACGCACCT	0.55		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)			16	29	---	---	---	---					AAC	7577116	-	AAC	7577115	7	5	415	1	0	1	1	0	0	0	0	0	16476	130	5	0	463	0	TP53	17	7577115	In_Frame_Ins	INS	-	TCGA-HD-7753-01A-11D-2078-08	2534451	7577115	73618095	78	82741											
ZNF286A	57335	broad.mit.edu	37	chr17	15620349	15620349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacactggagagaaaccCtatgagtgtaatgaatgtgg	14	10	11	6	0	1	3	1	2	0	1	1	5	1	4	1	2	1	1	1	2	4	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:15620349C>T	ENST00000464847.2	+	5	1864	c.1311C>T	c.(1309-1311)ccC>ccT	p.P437P	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000583566.1_Silent_p.P437P|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000593105.1_Silent_p.P427P|ZNF286A_ENST00000421016.1_Silent_p.P437P|ZNF286A_ENST00000413242.2_Silent_p.P437P			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GAGAGAAACCCTATGAGTGTA	0.388													21	31					0	0	0	0	T	15620349	C	T	15620349	2	4	415	1	0	0	0	0	0	0	0	1	17918	668	24	4		4	ZNF286A	17	15620349	Silent	SNP	C	TCGA-HD-7753-01A-11D-2078-08	8043234	15620349	65574861	79	82742											
LRRC37B	114659	broad.mit.edu	37	chr17	30372816	30372816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcattgcaacactgcatgtCtgactaacagcatacattgt	12	12	7	10	0	1	1	0	1	1	0	1	1	1	1	0	0	7	4	0	0	3	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:30372816C>T	ENST00000327564.7	+	8	2363	c.2302C>T	c.(2302-2304)Ctg>Ttg	p.L768L	LRRC37B_ENST00000341671.7_Silent_p.L741L|LRRC37B_ENST00000543378.2_Silent_p.L659L|LRRC37B_ENST00000394713.3_Silent_p.L690L|LRRC37B_ENST00000584368.1_Silent_p.L702L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	741						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CACTGCATGTCTGACTAACAG	0.358													33	159					0	0	0	0	T	30372816	C	T	30372816	2	4	415	1	0	0	0	0	0	0	0	1	9058	912	32	2		2	LRRC37B	17	30372816	Silent	SNP	C	TCGA-HD-7753-01A-11D-2078-08	14752467	30372816	50822394	80	82743											
GPR179	440435	broad.mit.edu	37	chr17	36485312	36485312	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgcctcccagggacaCggctctgccttggtgatgtc	5	11	11	14	1	2	1	1	1	1	0	4	2	3	2	3	3	2	1	3	3	0	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:36485312C>A	ENST00000342292.4	-	11	4160	c.4140G>T	c.(4138-4140)ccG>ccT	p.P1380P		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1380						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCAGGGACACGGCTCTGCCT	0.597													28	90					2.41591e-17	2.9818e-17	1	0	A	36485312	C	A	36485312	2	1	415	1	0	0	0	0	0	0	0	1	6723	523	19	3		3	GPR179	17	36485312	Silent	SNP	C	TCGA-HD-7753-01A-11D-2078-08	6112496	36485312	44709898	81	82744											
MED1	5469	broad.mit.edu	37	chr17	37564173	37564173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggaaccactgatgagtGgagagccatagtttttagaa	13	10	13	5	0	0	4	0	2	0	2	0	7	0	5	2	2	2	1	2	2	4	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:37564173G>A	ENST00000300651.6	-	17	4524	c.4301C>T	c.(4300-4302)cCa>cTa	p.P1434L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1434	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGATGAGTGGAGAGCCATA	0.488										HNSCC(31;0.082)			24	67					0	0	0	0	A	37564173	G	A	37564173	3	1	415	1	0	0	0	0	1	0	0	0	9494	1348	47	4	448	4	MED1	17	37564173	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	1078861	37564173	43631037	82	82745											
CCR7	1236	broad.mit.edu	37	chr17	38711204	38711204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaggctgtaggtgacGtcgtaggcgatgttgagttg	7	10	17	7	3	0	2	0	2	0	0	1	3	0	2	1	4	0	5	1	4	2	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:38711204G>A	ENST00000246657.2	-	3	989	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CCR7_ENST00000579344.1_Silent_p.D303D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	309					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567													12	45					0	0	0	0	A	38711204	G	A	38711204	2	1	415	1	0	0	0	0	0	0	0	1	2975	1136	40	1		1	CCR7	17	38711204	Silent	SNP	G	TCGA-HD-7753-01A-11D-2078-08	1147031	38711204	42484006	83	82746											
MRC2	9902	broad.mit.edu	37	chr17	60767596	60767596	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccgcgtggattcccttccgGgagcactgctattctttcca	5	13	9	14	3	1	0	0	0	1	0	5	2	5	2	4	2	2	2	4	2	1	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:60767596G>T	ENST00000303375.5	+	26	4224	c.3822G>T	c.(3820-3822)cgG>cgT	p.R1274R	MRC2_ENST00000446119.2_Silent_p.R140R	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1274	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TTCCCTTCCGGGAGCACTGCT	0.627													11	17					0.000673444	0.000704289	1	0	T	60767596	G	T	60767596	2	4	415	1	0	0	0	0	0	0	0	1	9828	1219	43	4		4	MRC2	17	60767596	Silent	SNP	G	TCGA-HD-7753-01A-11D-2078-08	22056392	60767596	20427614	84	82747											
TANC2	26115	broad.mit.edu	37	chr17	61432352	61432352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccctcagtcaagggtcctAtctatatctgaaacttacat	12	12	6	11	0	4	1	2	1	2	0	5	2	5	1	2	1	2	0	2	1	6	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:61432352A>G	ENST00000424789.2	+	12	1965	c.1961A>G	c.(1960-1962)tAt>tGt	p.Y654C	TANC2_ENST00000389520.4_Missense_Mutation_p.Y654C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	654							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAAGGGTCCTATCTATATCTG	0.388													53	119					0	0	0	0	G	61432352	A	G	61432352	3	3	415	1	0	0	0	0	1	0	0	0	15636	449	16	5	2007	5	TANC2	17	61432352	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	664756	61432352	19762858	85	82748											
ZNF521	25925	broad.mit.edu	37	chr18	22807417	22807417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcggctgcgcttgtgtttGaacagcctactgcagtaggt	6	13	12	10	2	1	1	0	1	1	0	2	1	1	1	1	2	5	5	1	2	3	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:22807417G>C	ENST00000361524.3	-	4	613	c.465C>G	c.(463-465)ttC>ttG	p.F155L	ZNF521_ENST00000538137.2_Missense_Mutation_p.F155L|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	155					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTTGTGTTTGAACAGCCTAC	0.498			T	PAX5	ALL								25	66					0	0	0	0	C	22807417	G	C	22807417	3	2	415	1	0	0	0	0	1	0	0	0	18060	1281	45	2	3490	2	ZNF521	18	22807417	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08		22807417	55269831	86	82749											
RIT2	6014	broad.mit.edu	37	chr18	40695399	40695399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taccgcttttaccaactcccCctgctcccagcattaccacc	8	10	3	20	1	0	0	0	0	0	0	2	0	2	0	7	0	6	3	7	0	4	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:40695399C>T	ENST00000589109.1	-	1	257	c.86G>A	c.(85-87)gGg>gAg	p.G29E	RIT2_ENST00000326695.5_Missense_Mutation_p.G29E|RIT2_ENST00000282028.4_Missense_Mutation_p.G29E|RIT2_ENST00000590910.1_Missense_Mutation_p.G29E	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	29					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAACTCCCCCTGCTCCCAG	0.512													23	199					0	0	0	0	T	40695399	C	T	40695399	3	4	415	1	0	0	0	0	1	0	0	0	13472	623	22	4	587	4	RIT2	18	40695399	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	17887982	40695399	37381849	87	82750											
SYT4	6860	broad.mit.edu	37	chr18	40850388	40850388	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccagtgctctccaccagttCcttctgctgctgcacccaag	6	11	7	17	0	2	0	0	0	2	0	5	0	4	0	5	0	4	5	5	0	1	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:40850388C>G	ENST00000255224.3	-	4	1564	c.1196G>C	c.(1195-1197)gGa>gCa	p.G399A	SYT4_ENST00000590752.1_Missense_Mutation_p.G381A|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	399						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCACCAGTTCCTTCTGCTGC	0.493													21	269					0	0	0	0	G	40850388	C	G	40850388	3	3	415	1	0	0	0	0	1	0	0	0	15567	855	30	2	85	2	SYT4	18	40850388	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	154989	40850388	37226860	88	82751											
DCC	1630	broad.mit.edu	37	chr18	50432611	50432611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagatcagccgactccaaCcgggggacattggaatttac	11	8	11	11	2	1	1	1	0	0	1	2	4	2	3	3	3	4	1	3	3	3	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:50432611C>A	ENST00000442544.2	+	3	1226	c.610C>A	c.(610-612)Ccg>Acg	p.P204T	DCC_ENST00000412726.1_Missense_Mutation_p.P52T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	204	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGACTCCAACCGGGGGACAT	0.502													9	19					0.00448238	0.00461719	1	0	A	50432611	C	A	50432611	3	1	415	1	0	0	0	0	1	0	0	0	4314	507	18	4	620	4	DCC	18	50432611	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	9582223	50432611	27644637	89	82752											
ZADH2	284273	broad.mit.edu	37	chr18	72914167	72914167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggccaactgtgtatctgGcactagcagagaggcctagg	9	9	13	10	0	1	1	0	0	1	1	1	2	1	1	2	4	2	3	2	4	4	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:72914167G>T	ENST00000322342.3	-	2	627	c.338C>A	c.(337-339)gCc>gAc	p.A113D	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	113						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGTGTATCTGGCACTAGCAGA	0.542													30	60					3.1745e-13	3.81496e-13	1	0	T	72914167	G	T	72914167	3	4	415	1	0	0	0	0	1	0	0	0	17607	1203	42	4	799	4	ZADH2	18	72914167	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	22481556	72914167	5163081	90	82753											
ADAMTS10	81794	broad.mit.edu	37	chr19	8651317	8651317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgatgggggcattgaagCggtagcggagggcaggcagc	8	4	22	7	3	0	1	0	1	0	0	0	3	0	2	0	7	3	4	0	7	2	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:8651317C>T	ENST00000270328.4	-	20	2707	c.2441G>A	c.(2440-2442)cGc>cAc	p.R814H	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R814H|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R301H			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	814	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCATTGAAGCGGTAGCGGAG	0.667											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	20					0	0	0	0	T	8651317	C	T	8651317	3	4	415	1	0	0	0	0	1	0	0	0	256	768	27	1	894	1	ADAMTS10	19	8651317	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08		8651317	50477666	91	82754											
ZNF98	148198	broad.mit.edu	37	chr19	22574948	22574948	+	Silent	SNP	G	G	T																															ctcttatgtgtagtaaggtgGgataaccggctaaaggcctt																								rs74170714		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22574948G>T	ENST00000357774.5	-	4	1210	c.1089C>A	c.(1087-1089)tcC>tcA	p.S363S		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAGTAAGGTGGGATAACCGGC	0.388													4	57					1	1	1	0	T	22574948	G	T	22574948	2	4	415	1	0	0	0	0	0	0	0	1	18296	1219	43	4		4	ZNF98	19	22574948	Silent	SNP	G	TCGA-HD-7753-01A-11D-2078-08	13923631	22574948	36554035	92	82755	1050	2									
ZNF98	148198	broad.mit.edu	37	chr19	22574951	22574951	+	Missense_Mutation	SNP	T	T	G																															ttatgtgtagtaaggtgggaTaaccggctaaaggccttacc																								rs74170714		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22574951T>G	ENST00000357774.5	-	4	1207	c.1086A>C	c.(1084-1086)ttA>ttC	p.L362F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAAGGTGGGATAACCGGCTAA	0.393													4	64					0	0	0	0	G	22574951	T	G	22574951	3	3	415	1	0	0	0	0	1	0	0	0	18296	1403	49	5	636	5	ZNF98	19	22574951	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	3	22574951	36554032	93	82756	1050	2									
ZNF99	7652	broad.mit.edu	37	chr19	22941472	22941472	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattaccttatgtacAgtaagttttgaggaccactt	12	15	8	6	0	0	2	0	2	0	0	0	3	0	3	2	1	2	4	2	1	6	8			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22941472A>G	ENST00000397104.3	-	5	965	c.966T>C	c.(964-966)acT>acC	p.T322T	ZNF99_ENST00000596209.1_Silent_p.T413T					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTTATGTACAGTAAGTTTTG	0.363													26	43					0	0	0	0	G	22941472	A	G	22941472	2	3	415	1	0	0	0	0	0	0	0	1	18297	175	7	5		5	ZNF99	19	22941472	Silent	SNP	A	TCGA-HD-7753-01A-11D-2078-08	366521	22941472	36187511	94	82757											
ZNF383	163087	broad.mit.edu	37	chr19	37733572	37733572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcaagaaatattcactcCtgaatacatgcccacattta	15	12	4	10	0	2	2	2	1	0	1	3	2	3	2	2	0	2	0	2	0	7	6			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:37733572C>T	ENST00000589413.1	+	8	1017	c.434C>T	c.(433-435)cCt>cTt	p.P145L	ZNF383_ENST00000590503.1_Missense_Mutation_p.P145L|ZNF383_ENST00000352998.3_Missense_Mutation_p.P145L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATTCACTCCTGAATACATG	0.368													26	50					0	0	0	0	T	37733572	C	T	37733572	3	4	415	1	0	0	0	0	1	0	0	0	17969	681	24	4	448	4	ZNF383	19	37733572	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	14792100	37733572	21395411	95	82758											
RASGRP4	115727	broad.mit.edu	37	chr19	38903847	38903847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttacctccaccagctgctCcacatgccgacccagtgtga	8	8	7	18	1	0	1	0	1	0	0	2	2	2	1	7	0	4	2	7	0	1	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:38903847C>T	ENST00000454404.2	-	11	1513	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	RASGRP4_ENST00000586305.1_Missense_Mutation_p.E454K|RASGRP4_ENST00000587738.1_Missense_Mutation_p.E468K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E376K|RASGRP4_ENST00000426920.2_Missense_Mutation_p.E279K|RASGRP4_ENST00000587753.1_Missense_Mutation_p.E399K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E371K	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	468					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCAGCTGCTCCACATGCCGA	0.667													13	20					0	0	0	0	T	38903847	C	T	38903847	3	4	415	1	0	0	0	0	1	0	0	0	13159	864	30	2	647	2	RASGRP4	19	38903847	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	1170275	38903847	20225136	96	82759											
ZNF404	342908	broad.mit.edu	37	chr19	44377455	44377455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaacaaaggccttttcaCattgttcacatttatatggt	11	15	7	8	1	2	0	2	0	0	0	2	1	2	0	1	2	2	1	1	2	4	7			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:44377455C>T	ENST00000587539.1	-	3	910	c.911G>A	c.(910-912)tGt>tAt	p.C304Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.C302Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GGCCTTTTCACATTGTTCACA	0.368													17	22					0	0	0	0	T	44377455	C	T	44377455	3	4	415	1	0	0	0	0	1	0	0	0	17981	478	17	4	751	4	ZNF404	19	44377455	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	5473608	44377455	14751528	97	82760											
ZC3H4	23211	broad.mit.edu	37	chr19	47584838	47584838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagtcgtcaccattgaTgcagttcccagtggtgtggt	7	12	12	10	1	1	1	1	1	0	0	3	1	2	1	2	2	2	3	2	2	0	2			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:47584838T>C	ENST00000253048.5	-	11	1409	c.1372A>G	c.(1372-1374)Atc>Gtc	p.I458V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	458							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCACCATTGATGCAGTTCCCA	0.547													14	41					0	0	0	0	C	47584838	T	C	47584838	3	2	415	1	0	0	0	0	1	0	0	0	17665	1464	51	5	2559	5	ZC3H4	19	47584838	Missense_Mutation	SNP	T	TCGA-HD-7753-01A-11D-2078-08	3207383	47584838	11544145	98	82761											
MED25	81857	broad.mit.edu	37	chr19	50334077	50334077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctgcttcccagcccaGtctggtctccactgtggccc	5	9	8	19	0	2	0	0	0	2	0	4	0	3	0	6	2	2	1	6	2	0	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:50334077G>T	ENST00000312865.6	+	9	1087	c.1034G>T	c.(1033-1035)aGt>aTt	p.S345I	MED25_ENST00000538643.1_Missense_Mutation_p.S132I	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCCCAGCCCAGTCTGGTCTCC	0.726													24	42					1.10923e-09	1.26637e-09	1	0	T	50334077	G	T	50334077	3	4	415	1	0	0	0	0	1	0	0	0	9512	1029	36	4	1068	4	MED25	19	50334077	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	2749239	50334077	8794906	99	82762											
ZNF611	81856	broad.mit.edu	37	chr19	53209236	53209236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaattctatgatgtgaaaGttgtgattgttgattaaaag	14	16	10	1	0	1	5	0	5	1	0	1	5	1	5	0	0	0	2	0	0	5	6			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:53209236G>A	ENST00000543227.1	-	6	1346	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	ZNF611_ENST00000595798.1_Missense_Mutation_p.L289F|ZNF611_ENST00000602162.1_Missense_Mutation_p.L289F|ZNF611_ENST00000453741.2_Missense_Mutation_p.L289F|ZNF611_ENST00000540744.1_Missense_Mutation_p.L358F|ZNF611_ENST00000319783.1_Missense_Mutation_p.L358F	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGATGTGAAAGTTGTGATTGT	0.343													9	71					0	0	0	0	A	53209236	G	A	53209236	3	1	415	1	0	0	0	0	1	0	0	0	18132	1029	36	4	1049	4	ZNF611	19	53209236	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	2875159	53209236	5919747	100	82763											
EDN3	1908	broad.mit.edu	37	chr20	57897498	57897498	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgccaacagaggcctgtGtcaaaggaggtgaagatgtg	12	7	16	6	0	1	3	1	1	0	2	1	4	1	4	2	4	2	0	2	4	3	0			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr20:57897498G>C	ENST00000311585.7	+	4	984	c.614G>C	c.(613-615)tGt>tCt	p.C205S	EDN3_ENST00000337938.2_Intron|EDN3_ENST00000371025.3_Intron|EDN3_ENST00000395654.3_Intron|EDN3_ENST00000371028.2_Intron	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	0					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AGAGGCCTGTGTCAAAGGAGG	0.517													13	32					0	0	0	0	C	57897498	G	C	57897498	3	2	415	1	0	0	0	0	1	0	0	0	4954	1377	48	4	628	4	EDN3	20	57897498	Missense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08		57897498	5128022	101	82764											
TTC3	7267	broad.mit.edu	37	chr21	38567994	38567994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttcatcccgagttactcCctgagtcttcaggcgacgat	8	11	10	12	3	3	1	2	1	1	0	5	4	5	1	2	2	1	2	2	2	1	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr21:38567994C>T	ENST00000399017.2	+	42	7983	c.5236C>T	c.(5236-5238)Cct>Tct	p.P1746S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.P1746S|TTC3_ENST00000355666.1_Missense_Mutation_p.P1746S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1746					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CGAGTTACTCCCTGAGTCTTC	0.532													40	201					0	0	0	0	T	38567994	C	T	38567994	3	4	415	1	0	0	0	0	1	0	0	0	16793	623	22	4	5398	4	TTC3	21	38567994	Missense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08		38567994	9561901	102	82765											
UMODL1	89766	broad.mit.edu	37	chr21	43547902	43547902	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctacctgcactgcaaactCcgcgtctgcatggaatcccc	8	9	8	16	2	2	0	0	0	2	0	4	1	4	1	4	1	5	3	4	1	3	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr21:43547902C>A	ENST00000400427.1	+	19	4215	c.3819C>A	c.(3817-3819)ctC>ctA	p.L1273L	UMODL1_ENST00000408989.2_Silent_p.L1345L|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Silent_p.L1217L|UMODL1_ENST00000400424.1_Silent_p.L1145L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1217						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTGCAAACTCCGCGTCTGCA	0.468													8	39					2.17888e-05	2.35044e-05	1	0	A	43547902	C	A	43547902	2	1	415	1	0	0	0	0	0	0	0	1	17076	842	30	2		2	UMODL1	21	43547902	Silent	SNP	C	TCGA-HD-7753-01A-11D-2078-08	4979908	43547902	4581993	103	82766											
POTEH	23784	broad.mit.edu	37	chr22	16267045	16267045	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggcaccgttagtcaggttTtctgggaatcccatatgagt	8	13	12	8	1	2	1	1	1	1	0	3	2	3	2	2	3	0	3	2	3	3	4			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:16267045T>C	ENST00000343518.6	-	9	1455	c.1404A>G	c.(1402-1404)gaA>gaG	p.E468E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	468										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGTCAGGTTTTCTGGGAATC	0.403													48	260					0	0	0	0	C	16267045	T	C	16267045	2	2	415	1	0	0	0	0	0	0	0	1	12339	1838	64	5		5	POTEH	22	16267045	Silent	SNP	T	TCGA-HD-7753-01A-11D-2078-08		16267045	35037521	104	82767											
TOM1	10043	broad.mit.edu	37	chr22	35726367	35726367	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcacgtgccgagccatgCagcagcgggtcctggagctc	7	5	14	15	4	0	0	0	0	0	0	2	2	1	1	4	2	6	4	4	2	0	0			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:35726367C>T	ENST00000382034.5	+	9	934	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	TOM1_ENST00000411850.1_Nonsense_Mutation_p.Q265*|TOM1_ENST00000436462.2_Nonsense_Mutation_p.Q227*|TOM1_ENST00000447733.1_Nonsense_Mutation_p.Q232*|TOM1_ENST00000425375.1_Nonsense_Mutation_p.Q220*|TOM1_ENST00000449058.2_Nonsense_Mutation_p.Q265*			O60784	TOM1_HUMAN	target of myb1 (chicken)	265					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGAGCCATGCAGCAGCGGGT	0.542													36	92					0	0	0	0	T	35726367	C	T	35726367	4	4	415	1	0	0	0	0	0	1	0	0	16445	711	25	4	823	4	TOM1	22	35726367	Nonsense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	19459322	35726367	15578199	105	82768											
MID1	4281	broad.mit.edu	37	chrX	10535569	10535569	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatagggcaggtcagttCtgactccagtgtttccatct	10	12	9	10	0	3	1	1	1	2	0	5	1	5	1	2	2	0	3	2	2	2	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:10535569C>A	ENST00000317552.4	-	2	419	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	MID1_ENST00000380787.1_Nonsense_Mutation_p.E7*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E7*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E7*|MID1_ENST00000380779.1_Nonsense_Mutation_p.E7*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	7					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGGTCAGTTCTGACTCCAGT	0.493													27	30					2.79863e-10	3.27703e-10	1	0	A	10535569	C	A	10535569	4	1	415	1	0	0	0	0	0	1	0	0	9645	922	32	2	2020	2	MID1	23	10535569	Nonsense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08		10535569	144734991	106	82769											
GPR64	10149	broad.mit.edu	37	chrX	19022940	19022940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaagcccacaaccaatatAtgtaatgaacgtcagagcca	17	7	7	10	1	1	3	1	2	0	1	1	3	1	3	3	0	4	1	3	0	7	3			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:19022940A>G	ENST00000379878.3	-	22	2090	c.1849T>C	c.(1849-1851)Tat>Cat	p.Y617H	GPR64_ENST00000360279.4_Missense_Mutation_p.Y611H|GPR64_ENST00000357991.3_Missense_Mutation_p.Y630H|GPR64_ENST00000340581.3_Missense_Mutation_p.Y514H|GPR64_ENST00000379869.3_Missense_Mutation_p.Y633H|GPR64_ENST00000379873.2_Missense_Mutation_p.Y633H|GPR64_ENST00000379876.1_Missense_Mutation_p.Y609H|GPR64_ENST00000357544.3_Missense_Mutation_p.Y603H|GPR64_ENST00000354791.3_Missense_Mutation_p.Y617H|GPR64_ENST00000356606.4_Missense_Mutation_p.Y619H	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	633	GPS.				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAACCAATATATGTAATGAAC	0.358													37	86					0	0	0	0	G	19022940	A	G	19022940	3	3	415	1	0	0	0	0	1	0	0	0	6754	449	16	5	1184	5	GPR64	23	19022940	Missense_Mutation	SNP	A	TCGA-HD-7753-01A-11D-2078-08	8487371	19022940	136247620	107	82770											
KDM6A	7403	broad.mit.edu	37	chrX	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacaggagttgcacaggtaCgatctactggaattcctaat	13	10	9	9	1	1	0	0	0	1	0	2	3	2	2	1	3	4	3	1	3	5	5			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:44922694C>T	ENST00000377967.4	+	16	1596	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.R519*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCACAGGTACGATCTACTGG	0.463			"D, N, F, S"		"renal, oesophageal SCC, MM"								14	32					0	0	0	0	T	44922694	C	T	44922694	4	4	415	1	0	0	0	0	0	1	0	0	8189	528	19	1	1617	1	KDM6A	23	44922694	Nonsense_Mutation	SNP	C	TCGA-HD-7753-01A-11D-2078-08	25899754	44922694	110347866	108	82771											
RGAG1	57529	broad.mit.edu	37	chrX	109696372	109696372	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaaggctcccatctctGgagcaatgtccatgccacta	11	9	9	12	0	1	1	0	1	1	0	4	2	3	2	3	2	2	2	3	2	4	1			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:109696372G>T	ENST00000465301.2	+	3	2773	c.2527G>T	c.(2527-2529)Gga>Tga	p.G843*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.G843*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	843										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCCATCTCTGGAGCAATGTC	0.517													98	53					3.57987e-33	4.71579e-33	1	0	T	109696372	G	T	109696372	4	4	415	1	0	0	0	0	0	1	0	0	13356	1349	47	4	2529	4	RGAG1	23	109696372	Nonsense_Mutation	SNP	G	TCGA-HD-7753-01A-11D-2078-08	64773678	109696372	45574188	109	82772											
CASZ1	54897	broad.mit.edu	37	chr1	10715871	10715871	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcttactcgtgaacctCtgccaggagacagcgccacg	8	8	10	15	3	1	2	0	1	1	1	3	3	2	2	4	1	5	1	4	1	2	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:10715871C>A	ENST00000377022.3	-	9	1818		c.e9-1		CASZ1_ENST00000344008.5_Splice_Site	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCGTGAACCTCTGCCAGGAGA	0.632													13	20					7.93312e-07	8.56416e-07	1	0	A	10715871	C	A	10715871	5	1	416	1	0	0	0	0	0	0	1	0	2710	927	32	2	3835	2	CASZ1	1	10715871	Splice_Site	SNP	C	TCGA-HD-7754-01A-11D-2078-08		10715871	238534750	1	82773											
ASAP3	55616	broad.mit.edu	37	chr1	23769117	23769117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttggccctagaccccaaGgaaagagaagcctgaacaag	15	4	11	11	0	0	3	0	1	0	2	0	5	0	4	4	2	3	1	4	2	6	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:23769117G>A	ENST00000437606.2	-	5	480	c.435C>T	c.(433-435)tcC>tcT	p.S145S	ASAP3_ENST00000336689.3_Intron	NM_001143778.1	NP_001137250.1	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	145					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TAGACCCCAAGGAAAGAGAAG	0.617													4	12					0	0	0	0	A	23769117	G	A	23769117	2	1	416	1	0	0	0	0	0	0	0	1	1016	987	35	4		4	ASAP3	1	23769117	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08	13053246	23769117	225481504	2	82774											
GJB3	2707	broad.mit.edu	37	chr1	35250490	35250490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtggctgcagagcgcGtgtggggggatgagcagaag	8	6	21	6	3	0	3	0	1	0	2	0	4	0	4	0	5	3	3	0	5	1	0			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:35250490G>A	ENST00000373366.2	+	2	742	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	GJB3_ENST00000373362.3_Missense_Mutation_p.V43M|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	43					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCAGAGCGCGTGTGGGGGGA	0.592													5	18					0	0	0	0	A	35250490	G	A	35250490	3	1	416	1	0	0	0	0	1	0	0	0	6460	1145	40	1	129	1	GJB3	1	35250490	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	11481373	35250490	214000131	3	82775											
SLC5A9	200010	broad.mit.edu	37	chr1	48701511	48701511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtgtggcagcgcttcCgcaggaagtcaacagagcag	10	8	14	9	2	1	2	1	1	0	1	2	3	2	3	1	2	3	4	1	2	2	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:48701511C>T	ENST00000236495.5	+	11	1377	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	SLC5A9_ENST00000533824.1_Missense_Mutation_p.R439C|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Missense_Mutation_p.R418C	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	418						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCAGCGCTTCCGCAGGAAGTC	0.617													15	23					0	0	0	0	T	48701511	C	T	48701511	3	4	416	1	0	0	0	0	1	0	0	0	14760	652	23	1	1369	1	SLC5A9	1	48701511	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	13451021	48701511	200549110	4	82776											
PDE4B	5142	broad.mit.edu	37	chr1	66838038	66838038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccattgtgggagacaTgggcagatttggtacagcct	9	11	12	9	0	0	2	0	0	0	2	2	3	2	2	3	3	2	2	3	3	1	3			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:66838038T>C	ENST00000423207.2	+	15	2328	c.1843T>C	c.(1843-1845)Tgg>Cgg	p.W615R	PDE4B_ENST00000371049.3_Missense_Mutation_p.W630R|PDE4B_ENST00000329654.4_Missense_Mutation_p.W630R|PDE4B_ENST00000371045.5_Missense_Mutation_p.W458R|PDE4B_ENST00000480109.2_Missense_Mutation_p.W397R	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	630					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GTGGGAGACATGGGCAGATTT	0.433													30	45					0	0	0	0	C	66838038	T	C	66838038	3	2	416	1	0	0	0	0	1	0	0	0	11711	1464	51	5	2308	5	PDE4B	1	66838038	Missense_Mutation	SNP	T	TCGA-HD-7754-01A-11D-2078-08	18136527	66838038	182412583	5	82777											
WDR63	126820	broad.mit.edu	37	chr1	85564339	85564339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggttgtctgacacatttGaggtgagacttgatggcctt	8	14	12	7	0	1	4	0	4	1	1	1	5	1	4	1	3	0	1	1	3	0	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:85564339G>A	ENST00000294664.6	+	13	1657	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	WDR63_ENST00000370596.1_Missense_Mutation_p.E454K|WDR63_ENST00000326813.8_Missense_Mutation_p.E454K	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	493										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGACACATTTGAGGTGAGACT	0.328													32	46					0	0	0	0	A	85564339	G	A	85564339	3	1	416	1	0	0	0	0	1	0	0	0	17410	1291	45	2	1523	2	WDR63	1	85564339	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	18726301	85564339	163686282	6	82778											
SEMA4A	64218	broad.mit.edu	37	chr1	156130751	156130751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtcgtctacttcttcttCgaggagacagccagcgagtt	8	11	11	11	3	3	1	0	0	3	1	5	4	3	1	1	2	3	1	1	2	1	5			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:156130751C>T	ENST00000368285.3	+	8	1008	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SEMA4A_ENST00000368282.1_Silent_p.F247F|SEMA4A_ENST00000368284.1_Silent_p.F115F|SEMA4A_ENST00000355014.2_Silent_p.F247F|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.F115F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	247	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ACTTCTTCTTCGAGGAGACAG	0.632													54	156					0	0	0	0	T	156130751	C	T	156130751	2	4	416	1	0	0	0	0	0	0	0	1	14118	883	31	1		1	SEMA4A	1	156130751	Silent	SNP	C	TCGA-HD-7754-01A-11D-2078-08	70566412	156130751	93119870	7	82779											
BCAN	63827	broad.mit.edu	37	chr1	156622478	156622478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagctatctggggtccctcGaggagagagcgaggagacag	10	6	17	8	2	1	3	0	1	1	2	3	8	2	4	1	4	2	1	1	4	1	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:156622478G>A	ENST00000329117.4	+	8	2072	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	BCAN_ENST00000361588.5_Missense_Mutation_p.R579Q|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	579					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGTCCCTCGAGGAGAGAGC	0.642													18	30					0	0	0	0	A	156622478	G	A	156622478	3	1	416	1	0	0	0	0	1	0	0	0	1349	1058	37	1	1762	1	BCAN	1	156622478	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	491727	156622478	92628143	8	82780											
OR10X1	128367	broad.mit.edu	37	chr1	158549198	158549198	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaagaagcctgcagtgcaAgcagaggccacaagttgtcc	14	6	11	10	0	0	2	0	0	0	2	1	2	1	2	3	1	4	4	3	1	5	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:158549198A>C	ENST00000368150.1	-	1	491	c.492T>G	c.(490-492)gcT>gcG	p.A164A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGCAGTGCAAGCAGAGGCCA	0.463													11	35					0	0	0	0	C	158549198	A	C	158549198	2	2	416	1	0	0	0	0	0	0	0	1	10993	59	3	5		5	OR10X1	1	158549198	Silent	SNP	A	TCGA-HD-7754-01A-11D-2078-08	1926720	158549198	90701423	9	82781											
ACTN2	88	broad.mit.edu	37	chr1	236912510	236912510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaattggatggagggCgctatggaggatctgcaaga	12	9	14	6	1	2	1	1	0	1	1	2	5	2	5	0	5	2	2	0	5	4	3			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:236912510C>T	ENST00000366578.4	+	14	1768	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	ACTN2_ENST00000546208.1_Silent_p.G28G|ACTN2_ENST00000542672.1_Silent_p.G534G	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	534					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGATGGAGGGCGCTATGGAGG	0.443													9	48					0	0	0	0	T	236912510	C	T	236912510	2	4	416	1	0	0	0	0	0	0	0	1	205	755	27	1		1	ACTN2	1	236912510	Silent	SNP	C	TCGA-HD-7754-01A-11D-2078-08	78363312	236912510	12338111	10	82782											
THADA	63892	broad.mit.edu	37	chr2	43755035	43755035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctgtttagtacttcagtGagtttcacaaaaccagtata	13	14	6	8	0	2	1	2	1	0	0	2	1	2	1	2	0	3	4	2	0	7	8			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:43755035G>A	ENST00000405006.4	-	22	3708	c.3357C>T	c.(3355-3357)ctC>ctT	p.L1119L	THADA_ENST00000405975.2_Silent_p.L1119L|THADA_ENST00000415080.2_Silent_p.L829L|THADA_ENST00000330266.7_Silent_p.L829L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1119							binding	p.L1119L(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTACTTCAGTGAGTTTCACAA	0.323													6	130					0	0	0	0	A	43755035	G	A	43755035	2	1	416	1	0	0	0	0	0	0	0	1	15934	1277	45	2		2	THADA	2	43755035	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08		43755035	199444338	11	82783											
TFCP2L1	29842	broad.mit.edu	37	chr2	121989537	121989537	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcttccaggaagatggcGtggtacactgggggaaggag	10	7	17	7	1	1	1	0	0	1	1	2	4	2	4	1	6	2	2	1	6	3	2	rs145068402		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:121989537G>A	ENST00000263707.5	-	13	1303	c.1206C>T	c.(1204-1206)caC>caT	p.H402H		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	402					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGAAGATGGCGTGGTACACTG	0.572													27	47					0	0	0	0	A	121989537	G	A	121989537	2	1	416	1	0	0	0	0	0	0	0	1	15890	1136	40	1		1	TFCP2L1	2	121989537	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08	78234502	121989537	121209836	12	82784											
LRP1B	53353	broad.mit.edu	37	chr2	141081592	141081592	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaggtcctgctccataTatataatcttcaaagatatc	12	17	4	8	0	2	1	1	0	1	1	5	1	4	1	2	1	1	1	2	1	7	9			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:141081592T>C	ENST00000389484.3	-	81	13355	c.12384A>G	c.(12382-12384)atA>atG	p.I4128M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4128					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGCTCCATATATATAATCTT	0.294										TSP Lung(27;0.18)			26	39					0	0	0	0	C	141081592	T	C	141081592	3	2	416	1	0	0	0	0	1	0	0	0	9019	1396	49	5	1459	5	LRP1B	2	141081592	Missense_Mutation	SNP	T	TCGA-HD-7754-01A-11D-2078-08	19092055	141081592	102117781	13	82785											
TTN	7273	broad.mit.edu	37	chr2	179654722	179654722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttctcctgagttatttGcacttgttctcttttggtag	5	19	7	10	0	2	1	0	1	2	0	4	1	2	1	2	1	1	4	2	1	2	8			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:179654722G>T	ENST00000589042.1	-	12	2145	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	TTN_ENST00000342992.6_Missense_Mutation_p.Q641K|TTN_ENST00000460472.2_Missense_Mutation_p.Q595K|TTN_ENST00000360870.5_Missense_Mutation_p.Q641K|TTN_ENST00000591111.1_Missense_Mutation_p.Q641K|TTN_ENST00000342175.6_Missense_Mutation_p.Q595K|TTN_ENST00000359218.5_Missense_Mutation_p.Q595K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	641							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTTATTTGCACTTGTTCT	0.328													12	48					1.5842e-08	1.72987e-08	1	0	T	179654722	G	T	179654722	3	4	416	1	0	0	0	0	1	0	0	0	16831	1328	46	4	109471	4	TTN	2	179654722	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	38573130	179654722	63544651	14	82786											
OXTR	5021	broad.mit.edu	37	chr3	8794894	8794894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctggccaggagcatgacGatgatgaaggccgaggctga	11	5	17	8	2	0	4	0	4	0	0	0	7	0	5	2	5	1	3	2	5	1	0			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:8794894G>A	ENST00000316793.3	-	4	1563	c.939C>T	c.(937-939)atC>atT	p.I313I	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	313					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGAGCATGACGATGATGAAGG	0.552													10	14					0	0	0	0	A	8794894	G	A	8794894	2	1	416	1	0	0	0	0	0	0	0	1	11409	1048	37	1		1	OXTR	3	8794894	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08		8794894	189227536	15	82787											
CACNA2D2	9254	broad.mit.edu	37	chr3	50418478	50418478	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagacctgccacagcagTgtggggtcttgtctgcggtt	6	10	14	11	2	2	1	0	0	2	1	2	2	2	1	3	3	3	2	3	3	1	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:50418478T>C	ENST00000435965.1	-	7	905	c.732A>G	c.(730-732)acA>acG	p.T244T	CACNA2D2_ENST00000423994.2_Silent_p.T244T|CACNA2D2_ENST00000395083.1_Silent_p.T244T|CACNA2D2_ENST00000266039.3_Silent_p.T244T|CACNA2D2_ENST00000479441.1_Silent_p.T244T|CACNA2D2_ENST00000429770.1_Silent_p.T244T|CACNA2D2_ENST00000424201.2_Silent_p.T244T|CACNA2D2_ENST00000360963.3_Silent_p.T175T			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	244					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCCACAGCAGTGTGGGGTCTT	0.607													36	62					0	0	0	0	C	50418478	T	C	50418478	2	2	416	1	0	0	0	0	0	0	0	1	2574	1683	59	5		5	CACNA2D2	3	50418478	Silent	SNP	T	TCGA-HD-7754-01A-11D-2078-08	41623584	50418478	147603952	16	82788											
AGTR1	185	broad.mit.edu	37	chr3	148459232	148459232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcacccaatgaagtcccGccttcgacgcacaatgcttg	9	10	8	14	3	1	1	1	1	0	0	3	2	2	1	3	0	1	3	3	0	3	3	rs56257794		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:148459232G>A	ENST00000542281.1	+	4	856	c.410G>A	c.(409-411)cGc>cAc	p.R137H	AGTR1_ENST00000402260.1_Missense_Mutation_p.R137H|AGTR1_ENST00000475347.1_Missense_Mutation_p.R137H|AGTR1_ENST00000474935.1_Missense_Mutation_p.R137H|AGTR1_ENST00000404754.2_Missense_Mutation_p.R137H|AGTR1_ENST00000497524.1_Missense_Mutation_p.R137H|AGTR1_ENST00000349243.3_Missense_Mutation_p.R137H|AGTR1_ENST00000418473.2_Missense_Mutation_p.R137H|AGTR1_ENST00000461609.1_Missense_Mutation_p.R137H	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	137					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATGAAGTCCCGCCTTCGACGC	0.488													45	151					0	0	0	0	A	148459232	G	A	148459232	3	1	416	1	0	0	0	0	1	0	0	0	401	1087	38	1	412	1	AGTR1	3	148459232	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	98040754	148459232	49563198	17	82789											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	52					0	0	0	0	A	178936082	G	A	178936082	3	1	416	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	30476850	178936082	19086348	18	82790											
PI4K2B	55300	broad.mit.edu	37	chr4	25258218	25258218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcgattgaccgtgcaaaAtcaagaggcaaaaagtatgc	17	7	10	7	2	1	2	1	1	0	1	1	3	1	2	1	1	3	3	1	1	7	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:25258218A>G	ENST00000264864.6	+	4	867	c.678A>G	c.(676-678)aaA>aaG	p.K226K	PI4K2B_ENST00000512921.1_Silent_p.K130K	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	226	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ACCGTGCAAAATCAAGAGGCA	0.363													28	57					0	0	0	0	G	25258218	A	G	25258218	2	3	416	1	0	0	0	0	0	0	0	1	11944	98	4	5		5	PI4K2B	4	25258218	Silent	SNP	A	TCGA-HD-7754-01A-11D-2078-08		25258218	165896058	19	82791											
TLR10	81793	broad.mit.edu	37	chr4	38776633	38776633	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccattggtaaaacaatgtgCagttttgttgtgtttaagat	11	17	9	4	0	0	1	0	0	0	1	1	1	1	1	1	1	2	5	1	1	4	7			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:38776633C>A	ENST00000308973.4	-	4	1184	c.579G>T	c.(577-579)ctG>ctT	p.L193L	TLR10_ENST00000361424.2_Silent_p.L193L|TLR10_ENST00000506111.1_Silent_p.L193L|TLR10_ENST00000508334.1_Silent_p.L193L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	193					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAACAATGTGCAGTTTTGTTG	0.358													21	45					7.41877e-09	8.19516e-09	1	0	A	38776633	C	A	38776633	2	1	416	1	0	0	0	0	0	0	0	1	16044	697	25	4		4	TLR10	4	38776633	Silent	SNP	C	TCGA-HD-7754-01A-11D-2078-08	13518415	38776633	152377643	20	82792											
POLR2B	5431	broad.mit.edu	37	chr4	57889516	57889516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgaggcatgccatttacGacaagctggatgatgatggt	11	10	13	7	1	0	3	0	3	0	0	0	5	0	4	1	3	3	3	1	3	2	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:57889516G>A	ENST00000381227.1	+	20	2949	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	POLR2B_ENST00000441246.2_Missense_Mutation_p.D839N|POLR2B_ENST00000431623.2_Missense_Mutation_p.D771N|POLR2B_ENST00000314595.5_Missense_Mutation_p.D846N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	846					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II 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|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGCCATTTACGACAAGCTGGA	0.418													10	29					0	0	0	0	A	57889516	G	A	57889516	3	1	416	1	0	0	0	0	1	0	0	0	12287	1058	37	1	2610	1	POLR2B	4	57889516	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	19112883	57889516	133264760	21	82793											
GC	2638	broad.mit.edu	37	chr4	72629179	72629179	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgagcagactctatttGacagagtggtgagaagtgat	12	12	13	4	0	1	6	0	4	1	3	1	7	1	6	0	1	1	1	0	1	2	3			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:72629179G>T	ENST00000273951.8	-	6	990	c.647C>A	c.(646-648)tCa>tAa	p.S216*	GC_ENST00000513476.1_Nonsense_Mutation_p.S216*|GC_ENST00000504199.1_Nonsense_Mutation_p.S235*|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	216	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GACTCTATTTGACAGAGTGGT	0.358													24	48					1.17739e-12	1.31591e-12	1	0	T	72629179	G	T	72629179	4	4	416	1	0	0	0	0	0	1	0	0	6331	1294	45	2	805	2	GC	4	72629179	Nonsense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	14739663	72629179	118525097	22	82794											
KIAA1109	84162	broad.mit.edu	37	chr4	123176339	123176339	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaacaggcttacaaaagtTgctcgctttctccaagaaaa	15	10	6	10	1	1	1	0	0	1	1	3	1	1	1	1	1	4	4	1	1	8	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:123176339T>C	ENST00000264501.4	+	40	6652	c.6279T>C	c.(6277-6279)gtT>gtC	p.V2093V	KIAA1109_ENST00000455637.1_Silent_p.V2093V|KIAA1109_ENST00000388738.3_Silent_p.V2093V			Q2LD37	K1109_HUMAN	KIAA1109	2093					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACAAAAGTTGCTCGCTTTC	0.338													5	53					0	0	0	0	C	123176339	T	C	123176339	2	2	416	1	0	0	0	0	0	0	0	1	8259	1799	63	5		5	KIAA1109	4	123176339	Silent	SNP	T	TCGA-HD-7754-01A-11D-2078-08	50547160	123176339	67977937	23	82795											
NPR3	4883	broad.mit.edu	37	chr5	32712195	32712195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttccaggtggcttacgagGattcagactgtgggaaccgt	8	10	14	9	2	1	1	1	0	0	1	2	4	2	3	2	4	2	2	2	4	2	3			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr5:32712195G>A	ENST00000265074.8	+	1	656	c.313G>A	c.(313-315)Gat>Aat	p.D105N	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.D105N|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)	105					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			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)	GGCTTACGAGGATTCAGACTG	0.682													25	44					0	0	0	0	A	32712195	G	A	32712195	3	1	416	1	0	0	0	0	1	0	0	0	10667	1174	41	2	315	2	NPR3	5	32712195	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08		32712195	148203065	24	82796											
VCAN	1462	broad.mit.edu	37	chr5	82834751	82834751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatctacagtacctactTcagttcacatcagtcacata	13	11	3	14	0	5	0	4	0	1	0	5	0	5	0	2	0	3	2	2	0	4	6			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr5:82834751T>C	ENST00000265077.3	+	8	6494	c.5929T>C	c.(5929-5931)Tca>Cca	p.S1977P	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S990P|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1977	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGTACCTACTTCAGTTCACAT	0.488													13	31					0	0	0	0	C	82834751	T	C	82834751	3	2	416	1	0	0	0	0	1	0	0	0	17234	1783	62	5	5955	5	VCAN	5	82834751	Missense_Mutation	SNP	T	TCGA-HD-7754-01A-11D-2078-08	50122556	82834751	98080509	25	82797											
TMEM184A	202915	broad.mit.edu	37	chr7	1595084	1595084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgctgacaccagggggaCgccggctgtctccaggatcc	6	7	14	14	3	1	1	0	1	1	0	4	3	2	3	4	4	0	3	4	4	0	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:1595084C>T	ENST00000297477.5	-	2	353	c.37G>A	c.(37-39)Gtc>Atc	p.V13I		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	13						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		ACCAGGGGGACGCCGGCTGTC	0.677													19	32					0	0	0	0	T	1595084	C	T	1595084	3	4	416	1	0	0	0	0	1	0	0	0	16198	536	19	1	1236	1	TMEM184A	7	1595084	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08		1595084	157543579	26	82798											
TAX1BP1	8887	broad.mit.edu	37	chr7	27831655	27831655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttttttaaaggagcaacttCgtaaagcagaggaacaggtt	14	11	11	5	1	0	1	0	0	0	1	1	3	0	3	0	3	4	5	0	3	6	6			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:27831655C>T	ENST00000396319.2	+	9	1157	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	TAX1BP1_ENST00000433216.2_Missense_Mutation_p.R200C|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.R357C|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.R357C|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.R357C	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	357	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GGAGCAACTTCGTAAAGCAGA	0.388													14	30					0	0	0	0	T	27831655	C	T	27831655	3	4	416	1	0	0	0	0	1	0	0	0	15685	884	31	1	1099	1	TAX1BP1	7	27831655	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	26236571	27831655	131307008	27	82799											
KIAA1549	57670	broad.mit.edu	37	chr7	138591668	138591668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagggctgtactcacgctCtgcgatctgcagcactgggt	8	9	13	11	2	3	1	1	0	2	1	3	2	3	1	0	2	4	5	0	2	2	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:138591668C>T	ENST00000440172.1	-	6	3505	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E1153K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E1103K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1153						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACTCACGCTCTGCGATCTGC	0.468			O	BRAF	pilocytic astrocytoma								20	31					0	0	0	0	T	138591668	C	T	138591668	3	4	416	1	0	0	0	0	1	0	0	0	8295	922	32	2	2455	2	KIAA1549	7	138591668	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	110760013	138591668	20546995	28	82800											
AGK	55750	broad.mit.edu	37	chr7	141315304	141315304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agattcccattggatttatcCcactgggagagaccagtagt	11	11	10	9	0	0	2	0	0	0	2	2	5	2	4	3	2	0	1	3	2	2	5			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:141315304C>T	ENST00000355413.4	+	8	717	c.457C>T	c.(457-459)Cca>Tca	p.P153S	AGK_ENST00000535825.1_Missense_Mutation_p.P150S|AGK_ENST00000473247.1_Missense_Mutation_p.P125S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	153	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGATTTATCCCACTGGGAGA	0.443													54	112					0	0	0	0	T	141315304	C	T	141315304	3	4	416	1	0	0	0	0	1	0	0	0	383	623	22	4	483	4	AGK	7	141315304	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	2723636	141315304	17823359	29	82801											
ENTPD4	9583	broad.mit.edu	37	chr8	23290623	23290623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagacaaaggaaacgcccCgccagtgggtgtgactggct	10	7	14	10	2	0	2	0	1	0	1	0	3	0	3	3	3	1	2	3	3	3	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:23290623C>T	ENST00000358689.4	-	13	1902	c.1667G>A	c.(1666-1668)cGg>cAg	p.R556Q	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R548Q	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	556					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGAAACGCCCCGCCAGTGGGT	0.582													9	15					0	0	0	0	T	23290623	C	T	23290623	3	4	416	1	0	0	0	0	1	0	0	0	5179	652	23	1	187	1	ENTPD4	8	23290623	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08		23290623	123073399	30	82802											
NECAB1	64168	broad.mit.edu	37	chr8	91967721	91967721	+	Frame_Shift_Del	DEL	G	G	-																															ttttctcttttcagcttcgtGgtggatcctgaacaactaga																										TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:91967721delG	ENST00000417640.2	+	13	1374	c.1037delG	c.(1036-1038)tgfs	p.W347fs	NECAB1_ENST00000522820.1_Frame_Shift_Del_p.W96fs|NECAB1_ENST00000521366.1_Frame_Shift_Del_p.W96fs	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	347					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCAGCTTCGTGGTGGATCCTG	0.338													2	4	---	---	---	---					-	91967721	G	-	91967721	7	5	416	1	0	1	0	1	0	0	0	0	10374	1357	47	0	1087	0	NECAB1	8	91967721	Frame_Shift_Del	DEL	G	TCGA-HD-7754-01A-11D-2078-08	68677098	91967721	54396301	31	82803											
EPPK1	83481	broad.mit.edu	37	chr8	144941384	144941384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtcgatgacaccccccGtggccacctgcacctccagc	6	6	11	18	2	0	1	0	1	0	0	2	2	1	1	7	2	2	1	7	2	0	0			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:144941384G>A	ENST00000525985.1	-	2	6109	c.6038C>T	c.(6037-6039)aCg>aTg	p.T2013M				P58107	EPIPL_HUMAN	epiplakin 1	2013						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACACCCCCCGTGGCCACCTG	0.627													9	18					0	0	0	0	A	144941384	G	A	144941384	3	1	416	1	0	0	0	0	1	0	0	0	5228	1145	40	1	1228	1	EPPK1	8	144941384	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	52973663	144941384	1422638	32	82804											
JAK2	3717	broad.mit.edu	37	chr9	5065041	5065041	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcatggcccaatttcGtgagtaatacagacttaaaa	15	11	7	8	1	1	2	1	1	0	1	2	2	1	2	1	1	2	1	1	1	6	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:5065041G>A	ENST00000381652.3	+	9	1708		c.e9+1		JAK2_ENST00000544510.1_Splice_Site|JAK2_ENST00000539801.1_Splice_Site	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2						actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.?(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GCCCAATTTCGTGAGTAATAC	0.313		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				11	6					0	0	0	0	A	5065041	G	A	5065041	5	1	416	1	0	0	0	0	0	0	1	0	7991	1159	40	1	1241	1	JAK2	9	5065041	Splice_Site	SNP	G	TCGA-HD-7754-01A-11D-2078-08		5065041	136148390	33	82805											
TMEM8B	51754	broad.mit.edu	37	chr9	35853517	35853517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacagtacgcagcgtcCgccgccggcactgctaccca	8	4	10	19	5	0	1	0	0	0	1	1	1	1	1	5	1	4	4	5	1	2	2	rs148540551	by1000genomes	TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:35853517C>T	ENST00000377988.2	+	13	2387	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	TMEM8B_ENST00000377991.4_Missense_Mutation_p.R367C	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	367					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						ACGCAGCGTCCGCCGCCGGCA	0.597													14	8					0	0	0	0	T	35853517	C	T	35853517	3	4	416	1	0	0	0	0	1	0	0	0	16309	652	23	1	1327	1	TMEM8B	9	35853517	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	30788476	35853517	105359914	34	82806											
UBQLN1	29979	broad.mit.edu	37	chr9	86322560	86322560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcggcgctatcctgggagCccggaggaccgccgctttca	5	6	15	15	6	1	0	1	0	0	0	2	3	2	3	4	5	1	2	4	5	1	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:86322560C>T	ENST00000376395.4	-	1	558	c.35G>A	c.(34-36)gGc>gAc	p.G12D	RP11-522I20.3_ENST00000524818.1_RNA|UBQLN1_ENST00000257468.7_Missense_Mutation_p.G12D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	12					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ATCCTGGGAGCCCGGAGGACC	0.706													4	2					0	0	0	0	T	86322560	C	T	86322560	3	4	416	1	0	0	0	0	1	0	0	0	16992	739	26	4	1778	4	UBQLN1	9	86322560	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	50469043	86322560	54890871	35	82807											
NFIL3	4783	broad.mit.edu	37	chr9	94171927	94171927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcactatgcttttcgagttCgaaatgtcttttagatgtca	9	16	9	7	2	2	1	1	0	1	1	4	3	2	1	0	1	1	3	0	1	3	6	rs34945709		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:94171927C>T	ENST00000297689.3	-	2	1484	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	364					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTCGAGTTCGAAATGTCTT	0.408													38	89					0	0	0	0	T	94171927	C	T	94171927	3	4	416	1	0	0	0	0	1	0	0	0	10443	893	31	1	302	1	NFIL3	9	94171927	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	7849367	94171927	47041504	36	82808											
C10orf10	11067	broad.mit.edu	37	chr10	45473220	45473220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggccactgaaacgtgCggtgatgtctcgcagggaca	8	8	14	11	3	1	2	0	2	1	0	2	3	1	3	1	3	3	2	1	3	1	0			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr10:45473220C>T	ENST00000298295.3	-	2	476	c.259G>A	c.(259-261)Gca>Aca	p.A87T	RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	87						mitochondrion				lung(1)	1						CTGAAACGTGCGGTGATGTCT	0.667													12	28					0	0	0	0	T	45473220	C	T	45473220	3	4	416	1	0	0	0	0	1	0	0	0	1589	768	27	1	383	1	C10orf10	10	45473220	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08		45473220	90061527	37	82809											
TACC2	10579	broad.mit.edu	37	chr10	123970459	123970459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaatctagcatctgagacGaaaacggaatctgccaagac	16	6	10	9	2	3	3	0	1	3	3	3	7	3	4	1	1	3	1	1	1	6	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr10:123970459G>A	ENST00000369005.1	+	9	6859	c.6519G>A	c.(6517-6519)acG>acA	p.T2173T	TACC2_ENST00000453444.2_Silent_p.T2177T|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Silent_p.T2173T|TACC2_ENST00000515603.1_Silent_p.T2128T|TACC2_ENST00000360561.3_Silent_p.T251T|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Silent_p.T319T|TACC2_ENST00000368999.1_Silent_p.T251T|TACC2_ENST00000515273.1_Silent_p.T2177T|TACC2_ENST00000513429.1_Silent_p.T319T|TACC2_ENST00000260733.3_Silent_p.T251T|TACC2_ENST00000369004.3_Silent_p.T251T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2173						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGAGACGAAAACGGAAT	0.592													36	63					0	0	0	0	A	123970459	G	A	123970459	2	1	416	1	0	0	0	0	0	0	0	1	15593	1045	37	1		1	TACC2	10	123970459	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08	78497239	123970459	11564288	38	82810											
ANO5	203859	broad.mit.edu	37	chr11	22281076	22281076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttcccagatgtctcttgtCgtcaccagtatggtagctgt	6	15	9	11	1	2	1	1	0	1	1	5	1	3	1	2	1	1	3	2	1	2	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:22281076C>T	ENST00000324559.8	+	15	1736	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	473						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCTCTTGTCGTCACCAGTA	0.383													29	35					0	0	0	0	T	22281076	C	T	22281076	2	4	416	1	0	0	0	0	0	0	0	1	699	871	31	1		1	ANO5	11	22281076	Silent	SNP	C	TCGA-HD-7754-01A-11D-2078-08		22281076	112725440	39	82811											
BSCL2	26580	broad.mit.edu	37	chr11	62458817	62458817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgtagctgaagagcaCgatgacgctgaggaaggtga	12	7	15	7	2	0	5	0	4	0	1	0	7	0	6	0	2	3	5	0	2	3	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:62458817C>T	ENST00000433053.1	-	8	1496	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.V314M|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000421906.1_Missense_Mutation_p.V250M|BSCL2_ENST00000407022.3_Missense_Mutation_p.V250M|BSCL2_ENST00000405837.1_Missense_Mutation_p.V314M|BSCL2_ENST00000403550.1_Missense_Mutation_p.V250M			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	250					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTGAAGAGCACGATGACGCTG	0.562													14	27					0	0	0	0	T	62458817	C	T	62458817	3	4	416	1	0	0	0	0	1	0	0	0	1535	536	19	1	468	1	BSCL2	11	62458817	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	40177741	62458817	72547699	40	82812											
ATM	472	broad.mit.edu	37	chr11	108153603	108153603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaatattgaggatttctAtaggtaagtttatacatgac	15	14	7	5	0	1	2	0	2	1	0	1	3	1	3	0	2	1	2	0	2	7	9			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:108153603A>G	ENST00000278616.4	+	25	4128	c.3743A>G	c.(3742-3744)tAt>tGt	p.Y1248C	ATM_ENST00000452508.2_Missense_Mutation_p.Y1248C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1248					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGATTTCTATAGGTAAGTT	0.294			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	8					0	0	0	0	G	108153603	A	G	108153603	3	3	416	1	0	0	0	0	1	0	0	0	1113	449	16	5	3837	5	ATM	11	108153603	Missense_Mutation	SNP	A	TCGA-HD-7754-01A-11D-2078-08	45694786	108153603	26852913	41	82813											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275690	130275690	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcatgctaaagtccacGtcattaggaacaaagaaggt	14	9	9	9	1	2	1	1	0	1	1	3	2	3	2	1	2	3	2	1	2	6	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:130275690G>A	ENST00000257359.6	-	9	3139	c.2433C>T	c.(2431-2433)gaC>gaT	p.D811D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	811	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TAAAGTCCACGTCATTAGGAA	0.567													57	105					0	0	0	0	A	130275690	G	A	130275690	2	1	416	1	0	0	0	0	0	0	0	1	272	1136	40	1		1	ADAMTS8	11	130275690	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08	22122087	130275690	4730826	42	82814											
SPSB2	84727	broad.mit.edu	37	chr12	6981424	6981424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctttcgcccaggtagcgGatgcggacctggcactggcc	5	8	13	15	3	0	0	0	0	0	0	2	2	1	2	4	5	2	2	4	5	1	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:6981424G>A	ENST00000519357.1	-	2	828	c.642C>T	c.(640-642)atC>atT	p.I214I	SPSB2_ENST00000524270.1_Silent_p.I214I|SPSB2_ENST00000523102.1_Silent_p.I214I			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	214	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGGTAGCGGATGCGGACCT	0.617											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	148	113					0	0	0	0	A	6981424	G	A	6981424	2	1	416	1	0	0	0	0	0	0	0	1	15203	1164	41	2		2	SPSB2	12	6981424	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08		6981424	126870471	43	82815											
RARG	5916	broad.mit.edu	37	chr12	53609209	53609209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcttctggatgcttcggcGaaagaagccctggagttgag	8	11	14	8	2	2	2	0	1	2	1	3	5	2	4	1	3	2	3	1	3	2	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:53609209G>A	ENST00000425354.2	-	5	830	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	RARG_ENST00000394426.1_Missense_Mutation_p.R115C|RARG_ENST00000338561.5_Missense_Mutation_p.R104C|RARG_ENST00000327550.3_Missense_Mutation_p.R43C|RARG_ENST00000543726.1_Missense_Mutation_p.R93C|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	115					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R115C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATGCTTCGGCGAAAGAAGCCC	0.552													20	35					0	0	0	0	A	53609209	G	A	53609209	3	1	416	1	0	0	0	0	1	0	0	0	13136	1058	37	1	1045	1	RARG	12	53609209	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	46627785	53609209	80242686	44	82816											
DHX37	57647	broad.mit.edu	37	chr12	125441262	125441262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctcaaacagctcccGcaccgtcatgctggccacga	9	6	8	18	3	2	0	2	0	0	0	4	1	4	0	4	1	4	4	4	1	1	0			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:125441262G>A	ENST00000308736.2	-	18	2526	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	DHX37_ENST00000544745.1_Missense_Mutation_p.R597W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	810							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AACAGCTCCCGCACCGTCATG	0.647													19	35					0	0	0	0	A	125441262	G	A	125441262	3	1	416	1	0	0	0	0	1	0	0	0	4547	1086	38	1	1085	1	DHX37	12	125441262	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	71832053	125441262	8410633	45	82817											
ZMYM5	9205	broad.mit.edu	37	chr13	20412924	20412924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagcaaaagaggtgagctGatccttttcgttgataagct	12	12	11	6	1	0	5	0	3	0	2	2	5	1	5	1	1	3	4	1	1	4	5			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:20412924G>A	ENST00000337963.4	-	5	1052	c.788C>T	c.(787-789)tCa>tTa	p.S263L	ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Missense_Mutation_p.S263L	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	263						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GAGGTGAGCTGATCCTTTTCG	0.403													51	83					0	0	0	0	A	20412924	G	A	20412924	3	1	416	1	0	0	0	0	1	0	0	0	17798	1294	45	2	1348	2	ZMYM5	13	20412924	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08		20412924	94756954	46	82818											
SCEL	8796	broad.mit.edu	37	chr13	78176794	78176794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttttccaaagaagacAaaatctcgaatctgttgcta	13	14	7	7	1	2	2	0	0	2	2	4	3	3	2	1	0	1	3	1	0	6	5			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:78176794A>G	ENST00000535157.1	+	16	1087	c.917A>G	c.(916-918)cAa>cGa	p.Q306R	SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.Q308R|SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000349847.3_Missense_Mutation_p.Q328R	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	328	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAAAGAAGACAAAATCTCGAA	0.358													21	54					0	0	0	0	G	78176794	A	G	78176794	3	3	416	1	0	0	0	0	1	0	0	0	13974	130	5	5	1045	5	SCEL	13	78176794	Missense_Mutation	SNP	A	TCGA-HD-7754-01A-11D-2078-08	57763870	78176794	36993084	47	82819											
DCT	1638	broad.mit.edu	37	chr13	95098003	95098003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggaagggagttccttggtCgctttctcttttctgttgag	5	16	13	7	1	2	1	0	1	2	0	5	3	3	3	1	3	0	3	1	3	1	6			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:95098003C>T	ENST00000446125.1	-	8	1674	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	DCT_ENST00000377028.5_Intron	NM_001129889.1	NP_001123361.1	P40126	TYRP2_HUMAN	dopachrome tautomerase	394					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTTCCTTGGTCGCTTTCTCTT	0.433													2	2					0	0	0	0	T	95098003	C	T	95098003	2	4	416	1	0	0	0	0	0	0	0	1	4336	871	31	1		1	DCT	13	95098003	Silent	SNP	C	TCGA-HD-7754-01A-11D-2078-08	16921209	95098003	20071875	48	82820											
AKAP6	9472	broad.mit.edu	37	chr14	33292161	33292161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaacaagatcccggaatcGaatgcatcgttcaggaagcg	15	6	11	9	4	1	2	1	0	0	2	4	5	2	4	1	2	3	2	1	2	6	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:33292161G>A	ENST00000280979.4	+	13	5312	c.5142G>A	c.(5140-5142)tcG>tcA	p.S1714S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1714					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCGGAATCGAATGCATCGT	0.468													24	51					0	0	0	0	A	33292161	G	A	33292161	2	1	416	1	0	0	0	0	0	0	0	1	455	1045	37	1		1	AKAP6	14	33292161	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08		33292161	74057379	49	82821											
ZFP36L1	677	broad.mit.edu	37	chr14	69257045	69257046	+	Frame_Shift_Ins	INS	-	-	T																															agctcagagcgggggctggcINStcacccttgaggctgctgag																										TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:69257045_69257046insT	ENST00000439696.2	-	2	522_523	c.221_222insA	c.(220-222)gccfs	p.A74fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.A74fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	74					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGGCTGGCTCACCCTTGAG	0.698											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18	---	---	---	---					T	69257046	-	T	69257045	7	5	416	1	0	1	1	0	0	0	0	0	17741	796	28	0	798	0	ZFP36L1	14	69257045	Frame_Shift_Ins	INS	-	TCGA-HD-7754-01A-11D-2078-08	35964884	69257045	38092495	50	82822											
SPTBN5	51332	broad.mit.edu	37	chr15	42169045	42169045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgaaccagcttctcGccgtgtgcccgcagagcctc	5	9	11	16	3	2	2	0	1	2	1	4	2	2	2	4	1	4	3	4	1	1	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:42169045G>A	ENST00000320955.6	-	19	4040	c.3813C>T	c.(3811-3813)ggC>ggT	p.G1271G		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1271					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCAGCTTCTCGCCGTGTGCCC	0.672													8	20					0	0	0	0	A	42169045	G	A	42169045	2	1	416	1	0	0	0	0	0	0	0	1	15212	1074	38	1		1	SPTBN5	15	42169045	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08		42169045	60362347	51	82823											
TMEM62	80021	broad.mit.edu	37	chr15	43452910	43452910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtaagagtgttcaccAcatattttctgttcaagaga	15	12	8	6	0	3	3	2	0	1	3	3	4	3	3	1	0	0	3	1	0	5	6			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:43452910A>G	ENST00000260403.2	+	10	1493	c.1214A>G	c.(1213-1215)cAc>cGc	p.H405R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	405						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTGTTCACCACATATTTTCT	0.318													13	56					0	0	0	0	G	43452910	A	G	43452910	3	3	416	1	0	0	0	0	1	0	0	0	16283	159	6	5	1252	5	TMEM62	15	43452910	Missense_Mutation	SNP	A	TCGA-HD-7754-01A-11D-2078-08	1283865	43452910	59078482	52	82824											
CATSPER2	117155	broad.mit.edu	37	chr15	43931101	43931101	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtccccagctctgcttaCgagaagaacacatggtactc	10	9	9	13	1	1	2	0	0	1	2	3	3	2	2	2	1	5	4	2	1	4	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:43931101C>T	ENST00000396879.1	-	8	955		c.e8+1		STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Splice_Site|CATSPER2_ENST00000381761.1_Splice_Site|CATSPER2_ENST00000321596.5_Splice_Site|CATSPER2_ENST00000354127.4_Splice_Site			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCTGCTTACGAGAAGAACA	0.463													22	17					0	0	0	0	T	43931101	C	T	43931101	5	4	416	1	0	0	0	0	0	0	1	0	2713	550	19	1	777	1	CATSPER2	15	43931101	Splice_Site	SNP	C	TCGA-HD-7754-01A-11D-2078-08	478191	43931101	58600291	53	82825											
MAPK6	5597	broad.mit.edu	37	chr15	52350913	52350913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcaggagcttctcagcGtaattccagtttacattaga	11	13	8	9	2	2	1	2	0	1	1	5	2	3	2	1	1	3	3	1	1	3	6			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:52350913G>A	ENST00000261845.5	+	4	1591	c.784G>A	c.(784-786)Gta>Ata	p.V262I	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	262	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCTTCTCAGCGTAATTCCAGT	0.408													11	19					0	0	0	0	A	52350913	G	A	52350913	3	1	416	1	0	0	0	0	1	0	0	0	9350	1145	40	1	794	1	MAPK6	15	52350913	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	8419812	52350913	50180479	54	82826											
DNAH3	55567	broad.mit.edu	37	chr16	20999297	20999297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaaccctttcccgaagTgccagtcaacaatcgaactg	13	8	6	14	2	2	0	2	0	0	0	4	2	3	0	3	0	4	0	3	0	5	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:20999297T>C	ENST00000261383.3	-	45	6691	c.6692A>G	c.(6691-6693)cAc>cGc	p.H2231R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2231	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTCCCGAAGTGCCAGTCAAC	0.448													9	33					0	0	0	0	C	20999297	T	C	20999297	3	2	416	1	0	0	0	0	1	0	0	0	4640	1696	59	5	5729	5	DNAH3	16	20999297	Missense_Mutation	SNP	T	TCGA-HD-7754-01A-11D-2078-08		20999297	69355456	55	82827											
POLR3E	55718	broad.mit.edu	37	chr16	22324968	22324968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacctgacacctttacatgGcatcctgcagctgcggccca	8	8	8	17	1	0	1	0	1	0	0	1	1	1	1	5	2	4	3	5	2	1	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:22324968G>A	ENST00000299853.5	+	7	559	c.392G>A	c.(391-393)gGc>gAc	p.G131D	POLR3E_ENST00000418581.2_Missense_Mutation_p.G95D|POLR3E_ENST00000359210.4_Missense_Mutation_p.G131D|POLR3E_ENST00000564209.1_Missense_Mutation_p.G131D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	131					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCTTTACATGGCATCCTGCAG	0.612													3	39					0	0	0	0	A	22324968	G	A	22324968	3	1	416	1	0	0	0	0	1	0	0	0	12304	1203	42	4	414	4	POLR3E	16	22324968	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	1325671	22324968	68029785	56	82828											
CACNG3	10368	broad.mit.edu	37	chr16	24366272	24366272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacgtcattctcagcgcGggcatcttttttgtctctgc	6	14	8	13	3	4	0	2	0	3	0	6	0	4	0	0	1	3	1	0	1	1	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:24366272G>A	ENST00000005284.3	+	3	1616	c.414G>A	c.(412-414)gcG>gcA	p.A138A		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TTCTCAGCGCGGGCATCTTTT	0.572													6	25					0	0	0	0	A	24366272	G	A	24366272	2	1	416	1	0	0	0	0	0	0	0	1	2583	1103	39	1		1	CACNG3	16	24366272	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08	2041304	24366272	65988481	57	82829											
C16orf58	64755	broad.mit.edu	37	chr16	31510704	31510704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaaggaacatggctacGtcattgaggatgtccgcaaa	13	9	10	9	2	2	1	2	1	1	0	4	3	3	3	1	3	2	2	1	3	4	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:31510704G>A	ENST00000327237.2	-	5	558	c.519C>T	c.(517-519)gaC>gaT	p.D173D	C16orf58_ENST00000570164.1_Silent_p.D173D|C16orf58_ENST00000430477.2_Silent_p.D31D|C16orf58_ENST00000567994.1_Silent_p.D128D			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	173						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						ACATGGCTACGTCATTGAGGA	0.547													19	24					0	0	0	0	A	31510704	G	A	31510704	2	1	416	1	0	0	0	0	0	0	0	1	1835	1136	40	1		1	C16orf58	16	31510704	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08	7144432	31510704	58844049	58	82830											
KRT40	125115	broad.mit.edu	37	chr17	39135155	39135155	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactcctggttctgtcgcTccaggtcgcagcggatctcg	4	11	13	13	4	2	0	0	0	2	0	7	1	4	1	2	4	2	4	2	4	1	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr17:39135155T>A	ENST00000377755.4	-	6	1131	c.1097A>T	c.(1096-1098)gAg>gTg	p.E366V	KRT40_ENST00000398486.2_Missense_Mutation_p.E366V			Q6A162	K1C40_HUMAN	keratin 40	366	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTCTGTCGCTCCAGGTCGCA	0.617													24	56					0	0	0	0	A	39135155	T	A	39135155	3	1	416	1	0	0	0	0	1	0	0	0	8530	1551	54	5	206	5	KRT40	17	39135155	Missense_Mutation	SNP	T	TCGA-HD-7754-01A-11D-2078-08		39135155	42060055	59	82831											
NPC1	4864	broad.mit.edu	37	chr18	21140392	21140392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacctcatccacagactcGtcacagcctttggtggcatt	8	11	9	13	1	2	2	2	1	0	1	4	2	3	2	3	2	1	1	3	2	0	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr18:21140392G>A	ENST00000269228.5	-	6	1238	c.684C>T	c.(682-684)gaC>gaT	p.D228D	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	228					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCACAGACTCGTCACAGCCTT	0.512													18	19					0	0	0	0	A	21140392	G	A	21140392	2	1	416	1	0	0	0	0	0	0	0	1	10640	1136	40	1		1	NPC1	18	21140392	Silent	SNP	G	TCGA-HD-7754-01A-11D-2078-08		21140392	56936856	60	82832											
CDC37	11140	broad.mit.edu	37	chr19	10505957	10505957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtaattggctgtctcctCgcacaccaggtggacgttgt	7	11	12	11	2	1	0	0	0	1	0	3	1	1	1	2	4	0	4	2	4	1	3			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:10505957C>T	ENST00000222005.2	-	4	603	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	184					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GCTGTCTCCTCGCACACCAGG	0.587													49	84					0	0	0	0	T	10505957	C	T	10505957	3	4	416	1	0	0	0	0	1	0	0	0	3097	893	31	1	606	1	CDC37	19	10505957	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08		10505957	48623026	61	82833											
HAPLN4	404037	broad.mit.edu	37	chr19	19369528	19369528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcccgcgttgcaccaGtccaggccgtcgcgccaggc	7	4	12	18	5	0	0	0	0	0	0	2	0	1	0	6	2	3	2	6	2	1	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:19369528G>T	ENST00000291481.7	-	4	684	c.621C>A	c.(619-621)gaC>gaA	p.D207E	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	207	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CGTTGCACCAGTCCAGGCCGT	0.731													4	7					0.00024832	0.000256417	1	0	T	19369528	G	T	19369528	3	4	416	1	0	0	0	0	1	0	0	0	7007	1020	36	4	595	4	HAPLN4	19	19369528	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	8863571	19369528	39759455	62	82834											
TSHZ3	57616	broad.mit.edu	37	chr19	31770448	31770448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctttcaaagtcagccattCggtcactggtctcactgatg	8	12	9	12	2	4	1	4	1	1	0	6	1	4	1	1	2	1	1	1	2	1	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:31770448C>T	ENST00000240587.4	-	2	578	c.251G>A	c.(250-252)cGa>cAa	p.R84Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	84					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCAGCCATTCGGTCACTGGT	0.587													10	21					0	0	0	0	T	31770448	C	T	31770448	3	4	416	1	0	0	0	0	1	0	0	0	16720	884	31	1	2998	1	TSHZ3	19	31770448	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	12400920	31770448	27358535	63	82835											
SLC23A2	9962	broad.mit.edu	37	chr20	4842675	4842675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcacaaagaggttccGggaagaatttaaatcaatga	17	8	9	7	1	1	3	1	1	0	2	3	4	3	4	2	2	1	2	2	2	7	3			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:4842675G>A	ENST00000379333.1	-	15	1935	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	SLC23A2_ENST00000338244.1_Missense_Mutation_p.R515W|SLC23A2_ENST00000424750.2_Missense_Mutation_p.R401W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	515					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAGAGGTTCCGGGAAGAATTT	0.473													14	20					0	0	0	0	A	4842675	G	A	4842675	3	1	416	1	0	0	0	0	1	0	0	0	14551	1115	39	1	421	1	SLC23A2	20	4842675	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08		4842675	58182845	64	82836											
CSRP2BP	57325	broad.mit.edu	37	chr20	18165392	18165392	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgtccaccctgaatggAgaagagcagggattgcaact	11	9	12	9	1	0	3	0	1	0	2	2	5	1	4	2	2	3	3	2	2	3	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:18165392A>C	ENST00000278816.2	+	10	2781	c.2131A>C	c.(2131-2133)Aga>Cga	p.R711R	CSRP2BP_ENST00000377681.2_Silent_p.R710R|CSRP2BP_ENST00000489634.2_Silent_p.R583R|CSRP2BP_ENST00000435364.2_Silent_p.R711R			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	711	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCCTGAATGGAGAAGAGCAGG	0.393													22	52					0	0	0	0	C	18165392	A	C	18165392	2	2	416	1	0	0	0	0	0	0	0	1	4000	296	11	5		5	CSRP2BP	20	18165392	Silent	SNP	A	TCGA-HD-7754-01A-11D-2078-08	13322717	18165392	44860128	65	82837											
EYA2	2139	broad.mit.edu	37	chr20	45812032	45812032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaagaggagcaaggagCgaaaaaggtacttcttccac	14	7	13	7	1	1	1	0	0	1	1	2	5	2	4	1	4	3	2	1	4	5	3			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:45812032C>T	ENST00000327619.5	+	15	1903	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	EYA2_ENST00000317304.6_Missense_Mutation_p.A480V|EYA2_ENST00000357410.3_Missense_Mutation_p.A431V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	510					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				gagcaaggagcgaaaaaggta	0.537													22	24					0	0	0	0	T	45812032	C	T	45812032	3	4	416	1	0	0	0	0	1	0	0	0	5367	768	27	1	1583	1	EYA2	20	45812032	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	27646640	45812032	17213488	66	82838											
ARFGEF2	10564	broad.mit.edu	37	chr20	47567892	47567892	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgggcacatcactggcaaCgcccctgacagtggagcccc	9	5	11	16	2	1	1	1	1	0	0	1	2	1	2	4	3	3	2	4	3	2	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:47567892C>T	ENST00000371917.4	+	4	309	c.309C>T	c.(307-309)aaC>aaT	p.N103N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	103					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCACTGGCAACGCCCCTGACA	0.517													11	25					0	0	0	0	T	47567892	C	T	47567892	2	4	416	1	0	0	0	0	0	0	0	1	855	535	19	1		1	ARFGEF2	20	47567892	Silent	SNP	C	TCGA-HD-7754-01A-11D-2078-08	1755860	47567892	15457628	67	82839											
BCAS1	8537	broad.mit.edu	37	chr20	52570172	52570172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagccctctttacccttCtgtggtgctcctgttggttc	3	15	11	12	0	2	0	0	0	2	0	4	2	3	1	3	3	3	3	3	3	1	5			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:52570172C>T	ENST00000395961.3	-	11	1645	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	BCAS1_ENST00000434986.2_Silent_p.Q159Q|BCAS1_ENST00000371435.2_Silent_p.Q415Q|BCAS1_ENST00000371440.3_Silent_p.Q502Q	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	493						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTTACCCTTCTGTGGTGCTC	0.493													15	40					0	0	0	0	T	52570172	C	T	52570172	2	4	416	1	0	0	0	0	0	0	0	1	1354	912	32	2		2	BCAS1	20	52570172	Silent	SNP	C	TCGA-HD-7754-01A-11D-2078-08	5002280	52570172	10455348	68	82840											
DYRK1A	1859	broad.mit.edu	37	chr21	38858909	38858909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgacactgaaatgaaataCtacataggtaaacaaacagg	20	7	7	7	0	0	3	0	3	0	0	0	3	0	3	0	2	4	1	0	2	8	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr21:38858909C>T	ENST00000339659.3	+	5	2100	c.630C>T	c.(628-630)taC>taT	p.Y210Y	DYRK1A_ENST00000338785.3_Silent_p.Y219Y|DYRK1A_ENST00000398956.2_Silent_p.Y219Y|DYRK1A_ENST00000451934.1_Silent_p.Y219Y|DYRK1A_ENST00000321219.8_Silent_p.Y219Y|DYRK1A_ENST00000398960.2_Silent_p.Y219Y	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	219	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AAATGAAATACTACATAGGTA	0.348													13	18					0	0	0	0	T	38858909	C	T	38858909	2	4	416	1	0	0	0	0	0	0	0	1	4890	576	20	4		4	DYRK1A	21	38858909	Silent	SNP	C	TCGA-HD-7754-01A-11D-2078-08		38858909	9270986	69	82841											
DIP2A	23181	broad.mit.edu	37	chr21	47916967	47916967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaagatgcctatgccttCgaagagacgttctgtccttg	9	11	12	9	2	1	2	0	0	1	2	3	6	2	3	3	1	2	1	3	1	3	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr21:47916967C>T	ENST00000318711.7	+	4	533	c.350C>T	c.(349-351)tCg>tTg	p.S117L	DIP2A_ENST00000435722.3_Missense_Mutation_p.S117L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S117L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S117L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S53L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S117L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S117L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	117					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTATGCCTTCGAAGAGACGT	0.438													8	13					0	0	0	0	T	47916967	C	T	47916967	3	4	416	1	0	0	0	0	1	0	0	0	4564	893	31	1	364	1	DIP2A	21	47916967	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	9058058	47916967	212928	70	82842											
CRYBA4	1413	broad.mit.edu	37	chr22	27021582	27021582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttccggcctgcggcctGtgctgtaagttctaccactg	4	12	10	15	2	1	0	0	0	1	0	3	0	3	0	5	2	3	3	5	2	2	4			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:27021582G>T	ENST00000354760.3	+	4	331	c.296G>T	c.(295-297)tGt>tTt	p.C99F	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	99	Connecting peptide.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCTGCGGCCTGTGCTGTAAGT	0.597													21	65					2.27525e-19	2.5732e-19	1	0	T	27021582	G	T	27021582	3	4	416	1	0	0	0	0	1	0	0	0	3939	1377	48	4	306	4	CRYBA4	22	27021582	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08		27021582	24282984	71	82843											
RBX1	9978	broad.mit.edu	37	chr22	41363843	41363843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctctcgctggctcaaaaCacgacaggtgtgtccattgg	9	10	10	12	2	2	0	1	0	1	0	5	1	3	0	1	3	1	2	1	3	2	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:41363843C>T	ENST00000216225.8	+	4	309	c.269C>T	c.(268-270)aCa>aTa	p.T90I		NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	90					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						TGGCTCAAAACACGACAGGTG	0.438													15	36					0	0	0	0	T	41363843	C	T	41363843	3	4	416	1	0	0	0	0	1	0	0	0	13247	478	17	4	283	4	RBX1	22	41363843	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	14342261	41363843	9940723	72	82844											
PLXNB2	23654	broad.mit.edu	37	chr22	50719042	50719042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccgtcagcagggacgCgaagtagaccttggcgcggg	8	4	16	13	6	1	1	1	0	0	1	1	3	1	2	3	3	1	2	3	3	2	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:50719042C>T	ENST00000449103.1	-	25	4191	c.4051G>A	c.(4051-4053)Gcg>Acg	p.A1351T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1351T			O15031	PLXB2_HUMAN	plexin B2	1351					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGGGACGCGAAGTAGACC	0.637													7	37					0	0	0	0	T	50719042	C	T	50719042	3	4	416	1	0	0	0	0	1	0	0	0	12196	768	27	1	1517	1	PLXNB2	22	50719042	Missense_Mutation	SNP	C	TCGA-HD-7754-01A-11D-2078-08	9355199	50719042	585524	73	82845											
NCAPH2	29781	broad.mit.edu	37	chr22	50960982	50960982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccgagggagcagaccccagGgaagccgctgaccttggtag	9	4	15	13	2	0	2	0	1	0	1	0	5	0	4	5	3	2	3	5	3	2	2			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:50960982G>T	ENST00000395701.3	+	16	1453	c.1359G>T	c.(1357-1359)agG>agT	p.R453S	NCAPH2_ENST00000420993.2_Missense_Mutation_p.R453S|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R454S			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	453					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGACCCCAGGGAAGCCGCTG	0.652													16	30					5.3912e-06	5.75466e-06	1	0	T	50960982	G	T	50960982	3	4	416	1	0	0	0	0	1	0	0	0	10280	1223	43	4	1463	4	NCAPH2	22	50960982	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08	241940	50960982	343584	74	82846											
ATRX	546	broad.mit.edu	37	chrX	76890120	76890120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggcccatacagtgggcaaGaatgcatcctgaacctggag	13	6	12	10	0	0	2	0	1	0	1	1	3	1	3	3	3	3	2	3	3	5	1			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chrX:76890120G>A	ENST00000373344.5	-	17	4988	c.4774C>T	c.(4774-4776)Ctt>Ttt	p.L1592F	ATRX_ENST00000395603.3_Missense_Mutation_p.L1554F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1592	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAGTGGGCAAGAATGCATCCT	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						52	21					0	0	0	0	A	76890120	G	A	76890120	3	1	416	1	0	0	0	0	1	0	0	0	1212	942	33	2	2780	2	ATRX	23	76890120	Missense_Mutation	SNP	G	TCGA-HD-7754-01A-11D-2078-08		76890120	78380440	75	82847											
MECP2	4204	broad.mit.edu	37	chrX	153363100	153363102	+	In_Frame_Del	DEL	GCG	GCG	-																															ctcctcctcctccgctcggcGcggcggcggcggcggcggcc																										TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chrX:153363100_153363102delGCG	ENST00000453960.2	-	1	75_77	c.21_23delCGC	c.(19-24)gcg>gc	p.AA7del	MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCTCGGCgcggcggcggcgg	0.778													2	4	---	---	---	---					-	153363102	GCG	-	153363100	7	5	416	1	0	1	0	1	0	0	0	0	9492	1087	38	0	1515	0	MECP2	23	153363100	In_Frame_Del	DEL	GCG	TCGA-HD-7754-01A-11D-2078-08	76472980	153363100	1907460	76	82848											
FBXO2	26232	broad.mit.edu	37	chr1	11708856	11708856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggacgaagcggacgccCggcccgtagtcggtgaaggt	9	4	17	11	7	0	1	0	1	0	0	1	4	0	3	2	5	2	1	2	5	4	1	rs141266599	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:11708856C>T	ENST00000354287.4	-	6	1127	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	262	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGACGCCCGGCCCGTAGT	0.672													8	93					0	0	0	0	T	11708856	C	T	11708856	2	4	417	1	0	0	0	0	0	0	0	1	5777	639	23	1		1	FBXO2	1	11708856	Silent	SNP	C	TCGA-HD-7831-01A-11D-2129-08		11708856	237541765	1	82849											
IQGAP3	128239	broad.mit.edu	37	chr1	156509200	156509200	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctgtcttgaacagctGgagcaggagataggcctctc	9	9	14	9	0	2	2	0	1	2	1	3	5	2	3	1	3	4	3	1	3	2	2			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:156509200G>A	ENST00000361170.2	-	25	3032	c.3022C>T	c.(3022-3024)Cag>Tag	p.Q1008*	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1008	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGAACAGCTGGAGCAGGAGA	0.517													7	19					0	0	0	0	A	156509200	G	A	156509200	4	1	417	1	0	0	0	0	0	1	0	0	7869	1357	47	4	1929	4	IQGAP3	1	156509200	Nonsense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08	144800344	156509200	92741421	2	82850											
IQGAP3	128239	broad.mit.edu	37	chr1	156513967	156513967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggaagtagtgcagacGcctcaggtattgcctccgag	8	10	12	11	2	2	1	1	0	1	1	3	3	3	2	3	2	2	3	3	2	3	4			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:156513967G>A	ENST00000361170.2	-	21	2447	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	813	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGTGCAGACGCCTCAGGTAT	0.592													16	89					0	0	0	0	A	156513967	G	A	156513967	3	1	417	1	0	0	0	0	1	0	0	0	7869	1087	38	1	2530	1	IQGAP3	1	156513967	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08	4767	156513967	92736654	3	82851											
RPIA	22934	broad.mit.edu	37	chr2	89035244	89035244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagtcgcttcatcgtgatcGctgatttcaggtacagtttc	7	15	9	10	3	2	2	2	2	0	0	6	2	2	2	0	1	1	4	0	1	2	5			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:89035244G>A	ENST00000283646.4	+	6	641	c.586G>A	c.(586-588)Gct>Act	p.A196T		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	196					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	p.A196T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CATCGTGATCGCTGATTTCAG	0.493													35	124					0	0	0	0	A	89035244	G	A	89035244	3	1	417	1	0	0	0	0	1	0	0	0	13638	1087	38	1	608	1	RPIA	2	89035244	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08		89035244	154164129	4	82852											
IL1RL1	9173	broad.mit.edu	37	chr2	102968039	102968039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacatacgaaagagcaggcgGcacattttcatcctgacccc	13	7	8	13	2	1	2	1	1	0	1	2	3	2	2	3	2	3	2	3	2	3	3	rs111942110	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:102968039G>A	ENST00000233954.1	+	11	1600	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	443	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGAGCAGGCGGCACATTTTCA	0.458													4	54					0	0	0	0	A	102968039	G	A	102968039	2	1	417	1	0	0	0	0	0	0	0	1	7716	1190	42	4		4	IL1RL1	2	102968039	Silent	SNP	G	TCGA-HD-7831-01A-11D-2129-08	13932795	102968039	140231334	5	82853											
TUBA3E	112714	broad.mit.edu	37	chr2	130949467	130949469	+	In_Frame_Del	DEL	CTT	CTT	-																															acgcccacctcttcacaatcCttctctagagctgccaggtc																										TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:130949467_130949469delCTT	ENST00000312988.7	-	5	1388_1390	c.1288_1290delAAG	c.(1288-1290)del	p.K430del		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	430					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CTTCACAATCCTTCTCTAGAGCT	0.591													17	152	---	---	---	---					-	130949469	CTT	-	130949467	7	5	417	1	0	1	0	1	0	0	0	0	16844	680	24	0	66	0	TUBA3E	2	130949467	In_Frame_Del	DEL	CTT	TCGA-HD-7831-01A-11D-2129-08	27981428	130949467	112249906	6	82854											
PTH1R	5745	broad.mit.edu	37	chr3	46944059	46944059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatgcccctctttggcGtccactacattgtcttcatg	5	15	7	14	1	4	0	2	0	2	0	5	0	5	0	3	1	3	1	3	1	1	4			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:46944059G>A	ENST00000313049.5	+	12	1458	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	PTH1R_ENST00000449590.1_Missense_Mutation_p.V419I|PTH1R_ENST00000430002.2_Missense_Mutation_p.V419I|PTH1R_ENST00000418619.1_Missense_Mutation_p.V419I			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	419						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCTCTTTGGCGTCCACTACAT	0.567													4	8					0	0	0	0	A	46944059	G	A	46944059	3	1	417	1	0	0	0	0	1	0	0	0	12838	1145	40	1	1301	1	PTH1R	3	46944059	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08		46944059	151078371	7	82855											
TOPBP1	11073	broad.mit.edu	37	chr3	133362159	133362159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgtcattactggaactgGtgtgaagagaggattcgact	10	12	12	7	1	1	2	1	1	0	1	3	6	2	4	1	3	2	0	1	3	3	2			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:133362159G>C	ENST00000260810.5	-	12	2037	c.1906C>G	c.(1906-1908)Cca>Gca	p.P636A		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	636					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACTGGAACTGGTGTGAAGAGA	0.368								Other conserved DNA damage response genes					14	47					0	0	0	0	C	133362159	G	C	133362159	3	2	417	1	0	0	0	0	1	0	0	0	16464	1261	44	4	2730	4	TOPBP1	3	133362159	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08	86418100	133362159	64660271	8	82856											
PLCH1	23007	broad.mit.edu	37	chr3	155215156	155215156	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtttgtgtacacaaccAaatcagagagttctcggcag	12	9	11	9	2	2	1	1	0	1	1	3	3	2	2	1	2	2	4	1	2	3	3			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:155215156A>T	ENST00000460012.1	-	15	2114	c.1757T>A	c.(1756-1758)tTg>tAg	p.L586*	PLCH1_ENST00000334686.6_Nonsense_Mutation_p.L586*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.L604*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.L604*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.L604*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.L586*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	604					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTACACAACCAAATCAGAGAG	0.463													13	85					0	0	0	0	T	155215156	A	T	155215156	4	4	417	1	0	0	0	0	0	1	0	0	12109	131	5	5	3325	5	PLCH1	3	155215156	Nonsense_Mutation	SNP	A	TCGA-HD-7831-01A-11D-2129-08	21852997	155215156	42807274	9	82857											
PIGG	54872	broad.mit.edu	37	chr4	515515	515515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagctggaagtcccaCtgtcatctcctgggttttct	6	13	11	11	0	3	1	1	1	2	0	5	2	4	2	2	3	1	3	2	3	1	2			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:515515C>T	ENST00000453061.2	+	8	1505	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L	PIGG_ENST00000509768.1_Silent_p.L378L|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000310340.5_Silent_p.L459L|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Silent_p.L378L|PIGG_ENST00000383028.4_Silent_p.L334L|PIGG_ENST00000536264.1_Silent_p.H329H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	467					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GGAAGTCCCACTGTCATCTCC	0.532													17	51					0	0	0	0	T	515515	C	T	515515	2	4	417	1	0	0	0	0	0	0	0	1	11960	564	20	4		4	PIGG	4	515515	Silent	SNP	C	TCGA-HD-7831-01A-11D-2129-08		515515	190638761	10	82858											
FAM193A	8603	broad.mit.edu	37	chr4	2659530	2659530	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttacatccccttactagAtgacaatgaaaaccaagcag	15	11	5	10	0	0	3	0	2	0	1	1	3	1	3	3	0	4	1	3	0	7	5			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:2659530A>G	ENST00000324666.5	+	6	790	c.438_splice	c.e6-1	p.M147_splice	FAM193A_ENST00000502458.1_Splice_Site_p.M171_splice|FAM193A_ENST00000382839.3_Splice_Site_p.M147_splice|FAM193A_ENST00000505311.1_Splice_Site_p.M147_splice|FAM193A_ENST00000545951.1_Splice_Site_p.M147_splice	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	147										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CCCTTACTAGATGACAATGAA	0.333													33	147					0	0	0	0	G	2659530	A	G	2659530	5	3	417	1	0	0	0	0	0	0	1	0	5567	347	12	5	453	5	FAM193A	4	2659530	Splice_Site	SNP	A	TCGA-HD-7831-01A-11D-2129-08	2144015	2659530	188494746	11	82859											
MED28	80306	broad.mit.edu	37	chr4	17616298	17616298	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggcggctccactagggggTatgttttctgggcagccacc	6	10	14	11	1	1	0	0	0	1	0	2	0	2	0	3	5	1	4	3	5	2	4			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:17616298T>G	ENST00000237380.6	+	1	45	c.21T>G	c.(19-21)ggT>ggG	p.G7G		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						CACTAGGGGGTATGTTTTCTG	0.647													12	28					0	0	0	0	G	17616298	T	G	17616298	2	3	417	1	0	0	0	0	0	0	0	1	9515	1625	57	5		5	MED28	4	17616298	Silent	SNP	T	TCGA-HD-7831-01A-11D-2129-08	14956768	17616298	173537978	12	82860											
SLC12A7	10723	broad.mit.edu	37	chr5	1094337	1094337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgacattgttgaggaatgGgctgttttctcttggatttc	6	17	11	7	1	1	1	0	1	1	0	4	4	1	3	0	3	0	3	0	3	1	6			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:1094337G>C	ENST00000264930.5	-	2	194	c.151C>G	c.(151-153)Cca>Gca	p.P51A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	51					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			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)	TTGAGGAATGGGCTGTTTTCT	0.423													13	116					0	0	0	0	C	1094337	G	C	1094337	3	2	417	1	0	0	0	0	1	0	0	0	14476	1232	43	4	3192	4	SLC12A7	5	1094337	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08		1094337	179820923	13	82861											
RXFP3	51289	broad.mit.edu	37	chr5	33937474	33937474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggagcctgggggacagctGctgcttctcggccaaggcgc	5	6	16	14	3	1	0	0	0	1	0	2	2	1	2	3	5	4	3	3	5	1	1			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:33937474G>T	ENST00000330120.3	+	1	984	c.629G>T	c.(628-630)tGc>tTc	p.C210F		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	210						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGGGACAGCTGCTGCTTCTCG	0.677													16	30					1.99824e-07	2.19478e-07	1	0	T	33937474	G	T	33937474	3	4	417	1	0	0	0	0	1	0	0	0	13846	1319	46	4	631	4	RXFP3	5	33937474	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08	32843137	33937474	146977786	14	82862											
SPEF2	79925	broad.mit.edu	37	chr5	35759820	35759820	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaattctgaaagccagcttAggtaaggcaggctattatat	14	11	9	7	0	1	1	0	1	1	0	1	1	1	1	1	3	2	4	1	3	7	6			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:35759820A>G	ENST00000440995.2	+	25	3604	c.3605_splice	c.e25+1	p.R1202_splice	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site_p.R1207_splice			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1207					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCAGCTTAGGTAAGGCAG	0.358													29	115					0	0	0	0	G	35759820	A	G	35759820	5	3	417	1	0	0	0	0	0	0	1	0	15125	434	15	5	3738	5	SPEF2	5	35759820	Splice_Site	SNP	A	TCGA-HD-7831-01A-11D-2129-08	1822346	35759820	145155440	15	82863											
RASA1	5921	broad.mit.edu	37	chr5	86672729	86672740	+	In_Frame_Del	DEL	ATGCTTTATCAC	ATGCTTTATCAC	-																															aaaggaacttcatgtagtctAtgctttatcacatgtatgtg																										TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:86672729_86672740delATGCTTTATCAC	ENST00000456692.2	+	17	1800_1811	c.1685_1696delATGCTTTATCAC	c.(1684-1698)tat>t	p.YALSH562del	RASA1_ENST00000512763.1_In_Frame_Del_p.YALSH572del|RASA1_ENST00000274376.6_In_Frame_Del_p.YALSH739del|RASA1_ENST00000506290.1_In_Frame_Del_p.YALSH573del|CTC-428H11.2_ENST00000607486.1_RNA	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	739	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CATGTAGTCTATGCTTTATCACATGTATGTGG	0.368													16	47	---	---	---	---					-	86672740	ATGCTTTATCAC	-	86672729	7	5	417	1	0	1	0	1	0	0	0	0	13142	449	16	0	2294	0	RASA1	5	86672729	In_Frame_Del	DEL	ATGCTTTATCAC	TCGA-HD-7831-01A-11D-2129-08	50912909	86672729	94242531	16	82864											
CDO1	1036	broad.mit.edu	37	chr5	115151945	115151945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtactggtcgaacttggcGtacattgcccactcggtggg	6	11	13	11	3	0	0	0	0	0	0	2	1	0	0	1	4	4	2	1	4	3	4			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:115151945G>A	ENST00000250535.4	-	1	706	c.150C>T	c.(148-150)taC>taT	p.Y50Y	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	50					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGAACTTGGCGTACATTGCCC	0.632													23	78					0	0	0	0	A	115151945	G	A	115151945	2	1	417	1	0	0	0	0	0	0	0	1	3198	1140	40	1		1	CDO1	5	115151945	Silent	SNP	G	TCGA-HD-7831-01A-11D-2129-08	28479216	115151945	65763315	17	82865											
SYNE1	23345	broad.mit.edu	37	chr6	152557366	152557366	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagcagctgatggataTcagaagtcgtttcccatcat	11	12	9	9	1	3	3	2	2	1	1	5	4	4	4	1	1	2	3	1	1	2	2			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr6:152557366T>A	ENST00000367255.5	-	110	20873	c.20272A>T	c.(20272-20274)Ata>Tta	p.I6758L	SYNE1_ENST00000423061.1_Missense_Mutation_p.I6687L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I6687L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I6758L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6370L|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1282L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6758					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGGATATCAGAAGTCGT	0.343										HNSCC(10;0.0054)			11	64					0	0	0	0	A	152557366	T	A	152557366	3	1	417	1	0	0	0	0	1	0	0	0	15536	1435	50	5	6342	5	SYNE1	6	152557366	Missense_Mutation	SNP	T	TCGA-HD-7831-01A-11D-2129-08		152557366	18557701	18	82866											
RPS6KA2	6196	broad.mit.edu	37	chr6	166918090	166918090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgacatcctcctccGtgaacatgacctagtaagaa	14	9	7	11	1	0	5	0	3	0	2	3	5	3	5	4	0	2	1	4	0	5	3			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr6:166918090G>A	ENST00000510118.1	-	8	885	c.545C>T	c.(544-546)aCg>aTg	p.T182M	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T165M|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.T157M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T68M|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.T3M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T68M			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	157	Protein kinase 1.				axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATCCTCCTCCGTGAACATGAC	0.428													15	68					0	0	0	0	A	166918090	G	A	166918090	3	1	417	1	0	0	0	0	1	0	0	0	13736	1145	40	1	1795	1	RPS6KA2	6	166918090	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08	14360724	166918090	4196977	19	82867											
IQCE	23288	broad.mit.edu	37	chr7	2632713	2632713	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaaggagctggagtgCgcgagggagggcgaggagga	10	3	23	5	3	0	1	0	0	0	1	0	9	0	6	0	7	2	1	0	7	1	0			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:2632713C>T	ENST00000402050.2	+	15	1486	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	IQCE_ENST00000325979.7_Silent_p.C369C|IQCE_ENST00000438376.2_Silent_p.C418C|IQCE_ENST00000404984.1_Silent_p.C383C	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	434								p.C434C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		agctggagtgcgcgagggagg	0.607													16	84					0	0	0	0	T	2632713	C	T	2632713	2	4	417	1	0	0	0	0	0	0	0	1	7859	776	27	1		1	IQCE	7	2632713	Silent	SNP	C	TCGA-HD-7831-01A-11D-2129-08		2632713	156505950	20	82868											
SP4	6671	broad.mit.edu	37	chr7	21516774	21516774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagcagttggaggaattGctaatgccacgataggtgct	10	11	13	7	1	0	0	0	0	0	0	0	3	0	2	1	3	4	5	1	3	4	5			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:21516774G>T	ENST00000222584.3	+	4	1974	c.1756G>T	c.(1756-1758)Gct>Tct	p.A586S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	586					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGGAGGAATTGCTAATGCCAC	0.453													10	38					3.07112e-06	3.31879e-06	1	0	T	21516774	G	T	21516774	3	4	417	1	0	0	0	0	1	0	0	0	15054	1319	46	4	1770	4	SP4	7	21516774	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08	18884061	21516774	137621889	21	82869											
ABCB1	5243	broad.mit.edu	37	chr7	87178771	87178771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagggcacgtgcaatggCgatcctctgcttctgcccac	8	8	10	15	2	2	0	0	0	2	0	3	1	3	0	3	2	4	3	3	2	2	1			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:87178771C>T	ENST00000265724.3	-	15	2035	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	ABCB1_ENST00000543898.1_Missense_Mutation_p.A476T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	540	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			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)	CGTGCAATGGCGATCCTCTGC	0.547													8	184					0	0	0	0	T	87178771	C	T	87178771	3	4	417	1	0	0	0	0	1	0	0	0	40	768	27	1	2284	1	ABCB1	7	87178771	Missense_Mutation	SNP	C	TCGA-HD-7831-01A-11D-2129-08	65661997	87178771	71959892	22	82870											
SLC26A4	5172	broad.mit.edu	37	chr7	107314736	107314736	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagacactgcagctagAgatacagctagagtcctgat	14	9	10	8	0	0	5	0	2	0	3	1	6	1	5	1	0	4	3	1	0	4	4			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:107314736A>G	ENST00000265715.3	+	5	767	c.543A>G	c.(541-543)agA>agG	p.R181R		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	181					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						CTGCAGCTAGAGATACAGCTA	0.413									Pendred syndrome				11	48					0	0	0	0	G	107314736	A	G	107314736	2	3	417	1	0	0	0	0	0	0	0	1	14607	301	11	5		5	SLC26A4	7	107314736	Silent	SNP	A	TCGA-HD-7831-01A-11D-2129-08	20135965	107314736	51823927	23	82871											
UBR5	51366	broad.mit.edu	37	chr8	103293651	103293651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggaagaacatcagaatgCtcatcattatgagaccgcat	15	9	8	9	1	3	3	3	1	0	3	3	5	3	4	1	1	2	2	1	1	4	1			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr8:103293651C>T	ENST00000520539.1	-	41	6399	c.5793G>A	c.(5791-5793)gaG>gaA	p.E1931E	UBR5_ENST00000521922.1_Silent_p.E1925E|UBR5_ENST00000220959.4_Silent_p.E1931E	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1931					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CATCAGAATGCTCATCATTAT	0.423													19	111					0	0	0	0	T	103293651	C	T	103293651	2	4	417	1	0	0	0	0	0	0	0	1	17001	796	28	4		4	UBR5	8	103293651	Silent	SNP	C	TCGA-HD-7831-01A-11D-2129-08		103293651	43070371	24	82872											
SEMA4D	10507	broad.mit.edu	37	chr9	91994380	91994380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgacaagttgaagatgaGcaagttttttctgcccataa	12	14	8	7	0	2	4	0	3	2	1	2	4	2	4	1	0	2	3	1	0	4	6			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:91994380G>A	ENST00000450295.1	-	16	2604	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.L610F|SEMA4D_ENST00000438547.2_Missense_Mutation_p.L610F|SEMA4D_ENST00000422704.2_Missense_Mutation_p.L610F			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	610	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TTGAAGATGAGCAAGTTTTTT	0.517													20	300					0	0	0	0	A	91994380	G	A	91994380	3	1	417	1	0	0	0	0	1	0	0	0	14121	971	34	4	1334	4	SEMA4D	9	91994380	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08		91994380	49219051	25	82873											
LHX2	9355	broad.mit.edu	37	chr9	126777641	126777641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgccgacgtggcagcGgcggccgctgcagccgcggc	6	3	16	16	7	0	0	0	0	0	0	0	1	0	0	4	4	5	3	4	4	1	0			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:126777641G>A	ENST00000373615.4	+	3	1303	c.564G>A	c.(562-564)gcG>gcA	p.A188A		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	188	Poly-Ala.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACGTGGCAGCGGCGGCCGCTG	0.677													3	28					0	0	0	0	A	126777641	G	A	126777641	2	1	417	1	0	0	0	0	0	0	0	1	8825	1103	39	1		1	LHX2	9	126777641	Silent	SNP	G	TCGA-HD-7831-01A-11D-2129-08	34783261	126777641	14435790	26	82874											
MED22	6837	broad.mit.edu	37	chr9	136211174	136211174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccagcttcatcagggaCtcgccggctcggacctgtgg	7	7	13	14	3	2	0	2	0	0	0	4	3	2	2	3	4	1	2	3	4	0	1			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:136211174C>A	ENST00000491289.1	-	4	800	c.219G>T	c.(217-219)gaG>gaT	p.E73D	MED22_ENST00000486395.1_Missense_Mutation_p.E73D|MED22_ENST00000343730.5_Missense_Mutation_p.E73D|MED22_ENST00000476080.1_Missense_Mutation_p.E73D|MED22_ENST00000344469.5_Missense_Mutation_p.E73D|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000371999.1_Missense_Mutation_p.E67D			Q15528	MED22_HUMAN	mediator complex subunit 22	73					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TCATCAGGGACTCGCCGGCTC	0.627													4	47					1.23904e-05	1.31771e-05	1	0	A	136211174	C	A	136211174	3	1	417	1	0	0	0	0	1	0	0	0	9509	564	20	4	401	4	MED22	9	136211174	Missense_Mutation	SNP	C	TCGA-HD-7831-01A-11D-2129-08	9433533	136211174	5002257	27	82875											
C9orf139	401563	broad.mit.edu	37	chr9	139929486	139929486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggggctccccctcatctCaccccacccaggcctcctga	6	6	8	21	0	2	1	2	1	1	0	5	1	4	1	7	3	0	2	7	3	0	0			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:139929486C>T	ENST00000314330.2	+	3	2067	c.553C>T	c.(553-555)Cac>Tac	p.H185Y		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	185										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		CCCCTCATCTCACCCCACCCA	0.592													16	56					0	0	0	0	T	139929486	C	T	139929486	3	4	417	1	0	0	0	0	1	0	0	0	2484	826	29	2	559	2	C9orf139	9	139929486	Missense_Mutation	SNP	C	TCGA-HD-7831-01A-11D-2129-08	3718312	139929486	1283945	28	82876											
RSU1	6251	broad.mit.edu	37	chr10	16794565	16794565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcagaacggtgaggcGgttcccctgaatgtggagct	7	8	18	8	2	0	3	0	2	0	1	1	4	1	4	2	6	2	3	2	6	2	1			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr10:16794565G>A	ENST00000377921.3	-	6	872	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	RSU1_ENST00000602389.1_Missense_Mutation_p.R138C|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.R191C			Q15404	RSU1_HUMAN	Ras suppressor protein 1	191					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ACGGTGAGGCGGTTCCCCTGA	0.463													21	84					0	0	0	0	A	16794565	G	A	16794565	3	1	417	1	0	0	0	0	1	0	0	0	13801	1116	39	1	274	1	RSU1	10	16794565	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08		16794565	118740182	29	82877											
OR52J3	119679	broad.mit.edu	37	chr11	5068241	5068241	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacttacacttcccatggtCtatcttatctaccgcctacc	8	15	3	15	1	3	0	0	0	3	0	4	0	4	0	4	1	4	0	4	1	6	7			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:5068241C>G	ENST00000380370.1	+	1	486	c.486C>G	c.(484-486)gtC>gtG	p.V162V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCCATGGTCTATCTTATCT	0.453													16	35					0	0	0	0	G	5068241	C	G	5068241	2	3	417	1	0	0	0	0	0	0	0	1	11193	900	32	2		2	OR52J3	11	5068241	Silent	SNP	C	TCGA-HD-7831-01A-11D-2129-08		5068241	129938275	30	82878											
OR8J1	219477	broad.mit.edu	37	chr11	56128083	56128083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggctttgatggcctatGaccgctatgtggctatttgt	5	16	12	8	1	0	2	0	2	0	0	0	2	0	2	2	3	1	4	2	3	3	5			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:56128083G>A	ENST00000303039.3	+	1	393	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GATGGCCTATGACCGCTATGT	0.488													10	80					0	0	0	0	A	56128083	G	A	56128083	3	1	417	1	0	0	0	0	1	0	0	0	11312	1290	45	2	363	2	OR8J1	11	56128083	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08	51059842	56128083	78878433	31	82879											
MYO7A	4647	broad.mit.edu	37	chr11	76872053	76872053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcgtgtggattgtggAcaagatcaacgcagcaattt	10	12	12	7	2	1	1	1	0	0	1	2	3	1	3	0	2	2	4	0	2	3	3			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:76872053A>G	ENST00000409709.3	+	12	1507	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	MYO7A_ENST00000409893.1_Missense_Mutation_p.D412G|MYO7A_ENST00000409619.2_Missense_Mutation_p.D401G|MYO7A_ENST00000458637.2_Missense_Mutation_p.D412G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	412	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGATTGTGGACAAGATCAAC	0.582													4	16					0	0	0	0	G	76872053	A	G	76872053	3	3	417	1	0	0	0	0	1	0	0	0	10152	275	10	5	1277	5	MYO7A	11	76872053	Missense_Mutation	SNP	A	TCGA-HD-7831-01A-11D-2129-08	20743970	76872053	58134463	32	82880											
NARS2	79731	broad.mit.edu	37	chr11	78277240	78277240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatatagaacccagaaCgttagtcctacacctaaagt	15	9	5	12	1	1	2	1	0	0	2	2	2	2	2	4	0	3	1	4	0	9	5			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:78277240C>T	ENST00000281038.5	-	4	826	c.451G>A	c.(451-453)Gtt>Att	p.V151I	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	151					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAACCCAGAACGTTAGTCCTA	0.403													13	63					0	0	0	0	T	78277240	C	T	78277240	3	4	417	1	0	0	0	0	1	0	0	0	10241	536	19	1	1026	1	NARS2	11	78277240	Missense_Mutation	SNP	C	TCGA-HD-7831-01A-11D-2129-08	1405187	78277240	56729276	33	82881											
A2ML1	144568	broad.mit.edu	37	chr12	8994102	8994102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttaccttggagacatcCggttggaatgggacagacgt	9	10	12	10	2	0	2	0	0	0	2	1	5	1	4	3	4	1	1	3	4	2	4			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr12:8994102C>T	ENST00000299698.7	+	11	1398	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	250						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGAGACATCCGGTTGGAATG	0.473													20	50					0	0	0	0	T	8994102	C	T	8994102	2	4	417	1	0	0	0	0	0	0	0	1	5	639	23	1		1	A2ML1	12	8994102	Silent	SNP	C	TCGA-HD-7831-01A-11D-2129-08		8994102	124857793	34	82882											
CPNE6	9362	broad.mit.edu	37	chr14	24545396	24545396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctccaatggggacccgagGagcagccagtccctgcactg	8	5	13	15	1	0	0	0	0	0	0	2	3	2	2	5	3	3	2	5	3	1	0			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:24545396G>A	ENST00000397016.2	+	12	1274	c.963G>A	c.(961-963)agG>agA	p.R321R	CPNE6_ENST00000216775.2_Silent_p.R321R|CPNE6_ENST00000537691.1_Silent_p.R376R			O95741	CPNE6_HUMAN	copine VI (neuronal)	321	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGGACCCGAGGAGCAGCCAGT	0.627													12	53					0	0	0	0	A	24545396	G	A	24545396	2	1	417	1	0	0	0	0	0	0	0	1	3846	1165	41	2		2	CPNE6	14	24545396	Silent	SNP	G	TCGA-HD-7831-01A-11D-2129-08		24545396	82804144	35	82883											
TTC7B	145567	broad.mit.edu	37	chr14	91121355	91121356	+	Frame_Shift_Ins	INS	-	-	GTAC																															ccgtcagtggcctgcagactINSgtacgtgagccccagagcta																										TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:91121355_91121356insGTAC	ENST00000357056.2	-	12	1561_1562	c.1440_1441insGTAC	c.(1438-1443)tagtctfs	p.S481fs	TTC7B_ENST00000328459.6_Frame_Shift_Ins_p.S481fs			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	481							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GCCTGCAGACTGTACGTGAGCC	0.559													10	51	---	---	---	---					GTAC	91121356	-	GTAC	91121355	7	5	417	1	0	1	1	0	0	0	0	0	16809	1580	55	0	1126	0	TTC7B	14	91121355	Frame_Shift_Ins	INS	-	TCGA-HD-7831-01A-11D-2129-08	66575959	91121355	16228185	36	82884											
DENND4A	10260	broad.mit.edu	37	chr15	65959893	65959893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccaaaaaacaattggaTgatggtccacaaagtctgct	14	10	9	8	0	1	1	0	1	1	0	3	2	3	2	2	3	2	2	2	3	5	2			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr15:65959893T>A	ENST00000443035.3	-	29	5347	c.5132A>T	c.(5131-5133)cAt>cTt	p.H1711L	DENND4A_ENST00000431932.2_Missense_Mutation_p.H1668L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AACAATTGGATGATGGTCCAC	0.388													12	55					0	0	0	0	A	65959893	T	A	65959893	3	1	417	1	0	0	0	0	1	0	0	0	4470	1464	51	5	608	5	DENND4A	15	65959893	Missense_Mutation	SNP	T	TCGA-HD-7831-01A-11D-2129-08		65959893	36571499	37	82885											
CDH13	1012	broad.mit.edu	37	chr16	83813622	83813622	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgataaccctggaggaCgtgaatgacaatgccccgtt	10	10	11	10	2	0	3	0	3	0	0	0	5	0	5	3	2	3	2	3	2	3	3	rs151311546	by1000genomes	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr16:83813622C>T	ENST00000566620.1	+	12	2021	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D	CDH13_ENST00000428848.3_Silent_p.D538D|CDH13_ENST00000268613.10_Silent_p.D624D	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	577	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCTGGAGGACGTGAATGACA	0.493													8	29					0	0	0	0	T	83813622	C	T	83813622	2	4	417	1	0	0	0	0	0	0	0	1	3128	535	19	1		1	CDH13	16	83813622	Silent	SNP	C	TCGA-HD-7831-01A-11D-2129-08		83813622	6541131	38	82886											
TP53	7157	broad.mit.edu	37	chr17	7578205	7578206	+	Frame_Shift_Ins	INS	-	-	T																															ctcatagggcaccaccacacINStatgtcgaaaagtgtttctg																										TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr17:7578205_7578206insT	ENST00000420246.2	-	6	775_776	c.643_644insA	c.(643-645)tgtfs	p.C215fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.C215fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C215fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C215fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C215fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C215fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S215I(18)|p.S215N(9)|p.0?(8)|p.S215G(6)|p.S215C(5)|p.?(5)|p.S215fs*32(4)|p.S215T(3)|p.S215R(2)|p.H214fs*5(2)|p.S122N(1)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.S83I(1)|p.S83N(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.S122I(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.S215_V218>M(1)|p.R209fs*6(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)		CACCACCACACTATGTCGAAAA	0.535		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	34	---	---	---	---					T	7578206	-	T	7578205	7	5	417	1	0	1	1	0	0	0	0	0	16476	565	20	0	650	0	TP53	17	7578205	Frame_Shift_Ins	INS	-	TCGA-HD-7831-01A-11D-2129-08		7578205	73617005	39	82887											
SOCS6	9306	broad.mit.edu	37	chr18	67992652	67992652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcttctcccatggaaGtctctgcggttcctcctcaa	7	12	7	15	1	4	0	1	0	3	0	8	1	6	1	3	2	2	2	3	2	2	2			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr18:67992652G>A	ENST00000397942.3	+	2	1064	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	SOCS6_ENST00000582322.1_Missense_Mutation_p.V250I	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	250					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TCCCATGGAAGTCTCTGCGGT	0.537													18	81					0	0	0	0	A	67992652	G	A	67992652	3	1	417	1	0	0	0	0	1	0	0	0	15006	1029	36	4	750	4	SOCS6	18	67992652	Missense_Mutation	SNP	G	TCGA-HD-7831-01A-11D-2129-08		67992652	10084596	40	82888											
ANKRD24	170961	broad.mit.edu	37	chr19	4219650	4219650	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggcacagctggccacAgcagagcagcagctacgggg	10	2	16	13	2	0	1	0	0	0	1	0	2	0	1	2	4	6	6	2	4	1	1			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:4219650A>T	ENST00000600132.1	+	19	3342	c.3066A>T	c.(3064-3066)acA>acT	p.T1022T	ANKRD24_ENST00000318934.4_Silent_p.T1022T|ANKRD24_ENST00000262970.5_Silent_p.T1112T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1022										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGCTGGCCACAGCAGAGCAGC	0.652													9	68					0	0	0	0	T	4219650	A	T	4219650	2	4	417	1	0	0	0	0	0	0	0	1	653	175	7	5		5	ANKRD24	19	4219650	Silent	SNP	A	TCGA-HD-7831-01A-11D-2129-08		4219650	54909333	41	82889											
FBN3	84467	broad.mit.edu	37	chr19	8152012	8152012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatgcctgggggacagaCgcacgcgaaggtaccgatga	10	4	15	12	5	0	2	0	1	0	1	0	5	0	3	3	3	2	3	3	3	2	1			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:8152012C>T	ENST00000600128.1	-	54	7117	c.6703G>A	c.(6703-6705)Gtc>Atc	p.V2235I	FBN3_ENST00000601739.1_Missense_Mutation_p.V2235I|FBN3_ENST00000270509.2_Missense_Mutation_p.V2235I			Q75N90	FBN3_HUMAN	fibrillin 3	2235	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGGACAGACGCACGCGAAG	0.627													9	58					0	0	0	0	T	8152012	C	T	8152012	3	4	417	1	0	0	0	0	1	0	0	0	5749	536	19	1	1770	1	FBN3	19	8152012	Missense_Mutation	SNP	C	TCGA-HD-7831-01A-11D-2129-08	3932362	8152012	50976971	42	82890											
ZNF85	7639	broad.mit.edu	37	chr19	21132642	21132642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaaccaatcctcaaaacTtactgaacataagaaaattc	18	12	2	9	0	1	2	1	1	0	1	3	2	2	2	2	0	4	0	2	0	9	5			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:21132642T>C	ENST00000601023.1	+	2	1791	c.1145T>C	c.(1144-1146)cTt>cCt	p.L382P	ZNF85_ENST00000328178.8_Missense_Mutation_p.L441P|ZNF85_ENST00000345030.6_Missense_Mutation_p.L408P			Q03923	ZNF85_HUMAN	zinc finger protein 85	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCCTCAAAACTTACTGAACAT	0.323													3	20					0	0	0	0	C	21132642	T	C	21132642	3	2	417	1	0	0	0	0	1	0	0	0	18286	1609	56	5	1336	5	ZNF85	19	21132642	Missense_Mutation	SNP	T	TCGA-HD-7831-01A-11D-2129-08	12980630	21132642	37996341	43	82891											
ZNF98	148198	broad.mit.edu	37	chr19	22575302	22575302	+	Frame_Shift_Del	DEL	T	T	-																															tgtgagagccggttaaaggcTtttccacactcttcgcattt																										TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:22575302delT	ENST00000357774.5	-	4	856	c.735delA	c.(733-735)aafs	p.K245fs		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGTTAAAGGCTTTTCCACACT	0.393													2	4	---	---	---	---					-	22575302	T	-	22575302	7	5	417	1	0	1	0	1	0	0	0	0	18296	1606	56	0	987	0	ZNF98	19	22575302	Frame_Shift_Del	DEL	T	TCGA-HD-7831-01A-11D-2129-08	1442660	22575302	36553681	44	82892											
LBP	3929	broad.mit.edu	37	chr20	37001732	37001732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcagagctgttggaagCgctcctcaactattacatcc	10	9	9	13	1	1	1	1	0	0	1	3	2	3	2	3	2	4	4	3	2	4	3			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr20:37001732C>T	ENST00000217407.2	+	13	1438	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	426					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTTGGAAGCGCTCCTCAAC	0.463													9	66					0	0	0	0	T	37001732	C	T	37001732	3	4	417	1	0	0	0	0	1	0	0	0	8704	768	27	1	1327	1	LBP	20	37001732	Missense_Mutation	SNP	C	TCGA-HD-7831-01A-11D-2129-08		37001732	26023788	45	82893											
SLC5A1	6523	broad.mit.edu	37	chr22	32506120	32506120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacggacacctctgagaagCctttgtggaggacagtgttg	9	10	14	8	1	1	2	0	2	1	1	1	6	1	5	2	3	1	1	2	3	1	2			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:32506120C>G	ENST00000266088.4	+	15	2165	c.1915C>G	c.(1915-1917)Cct>Gct	p.P639A	SLC5A1_ENST00000543737.1_Missense_Mutation_p.P512A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	639					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CTCTGAGAAGCCTTTGTGGAG	0.493													4	71					0	0	0	0	G	32506120	C	G	32506120	3	3	417	1	0	0	0	0	1	0	0	0	14749	739	26	4	1973	4	SLC5A1	22	32506120	Missense_Mutation	SNP	C	TCGA-HD-7831-01A-11D-2129-08		32506120	18798446	46	82894											
ELFN2	114794	broad.mit.edu	37	chr22	37770213	37770213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccagcttctgggcggcGtgcacaatggagccggcatc	6	7	14	14	4	1	0	0	0	1	0	3	1	1	1	2	4	3	3	2	4	1	1	rs145219811		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:37770213G>A	ENST00000402918.1	-	3	2147	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	ELFN2_ENST00000349653.3_Silent_p.H454H|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	454						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCTGGGCGGCGTGCACAATGG	0.637													9	166					0	0	0	0	A	37770213	G	A	37770213	2	1	417	1	0	0	0	0	0	0	0	1	5096	1136	40	1		1	ELFN2	22	37770213	Silent	SNP	G	TCGA-HD-7831-01A-11D-2129-08	5264093	37770213	13534353	47	82895											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719029	64719037	+	In_Frame_Del	DEL	ACTACCGAG	ACTACCGAG	-																															catcattgtgtccaatgataActaccgagaccttcaagttg																										TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chrX:64719029_64719037delACTACCGAG	ENST00000338957.4	+	3	966_974	c.899_907delACTACCGAG	c.(898-909)aac>a	p.NYRD300del	ZC3H12B_ENST00000423889.3_In_Frame_Del_p.NYRD289del	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	289							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAATGATAACTACCGAGACCTTCAAGT	0.445													17	43	---	---	---	---					-	64719037	ACTACCGAG	-	64719029	7	5	417	1	0	1	0	1	0	0	0	0	17657	43	2	0	909	0	ZC3H12B	23	64719029	In_Frame_Del	DEL	ACTACCGAG	TCGA-HD-7831-01A-11D-2129-08		64719029	90551531	48	82896											
KIF1B	23095	broad.mit.edu	37	chr1	10356659	10356659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatcgtgaccttagagccCtgtgagcgctcagaaaccta	10	10	10	11	2	1	4	1	2	0	2	2	4	1	4	3	0	3	2	3	0	4	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:10356659C>T	ENST00000377086.1	+	20	1999	c.1797C>T	c.(1795-1797)ccC>ccT	p.P599P	KIF1B_ENST00000377093.4_Silent_p.P553P|KIF1B_ENST00000263934.6_Silent_p.P553P|KIF1B_ENST00000377083.1_Silent_p.P553P|KIF1B_ENST00000377081.1_Silent_p.P599P			O60333	KIF1B_HUMAN	kinesin family member 1B	599	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTAGAGCCCTGTGAGCGCT	0.443													17	19					0	0	0	0	T	10356659	C	T	10356659	2	4	418	1	0	0	0	0	0	0	0	1	8335	668	24	4		4	KIF1B	1	10356659	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08		10356659	238893962	1	82897											
CLCN6	1185	broad.mit.edu	37	chr1	11893658	11893658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacactcttcttcaacccGcaggagtctgccatcctcca	8	9	6	18	1	4	0	1	0	3	0	6	1	6	1	5	1	2	1	5	1	1	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:11893658G>A	ENST00000346436.6	+	14	1387	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.P423P|CLCN6_ENST00000376496.3_Silent_p.P445P	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	445					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCAACCCGCAGGAGTCTG	0.493													19	21					0	0	0	0	A	11893658	G	A	11893658	2	1	418	1	0	0	0	0	0	0	0	1	3497	1074	38	1		1	CLCN6	1	11893658	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	1536999	11893658	237356963	2	82898											
UBXN10	127733	broad.mit.edu	37	chr1	20517058	20517058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggtcttgagaagcaatgGccacagaagcccctgtgaat	12	7	13	9	0	1	3	0	2	1	2	1	4	1	3	3	3	2	1	3	3	4	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:20517058G>A	ENST00000375099.3	+	2	88	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	2										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGAAGCAATGGCCACAGAAGC	0.502													41	73					0	0	0	0	A	20517058	G	A	20517058	3	1	418	1	0	0	0	0	1	0	0	0	17008	1203	42	4	6	4	UBXN10	1	20517058	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	8623400	20517058	228733563	3	82899											
NKAIN1	79570	broad.mit.edu	37	chr1	31655404	31655404	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctccaggaacacttTgctcacgtagcaggcgaaca	10	8	8	15	2	1	0	1	0	0	0	4	2	4	1	3	2	4	3	3	2	3	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:31655404T>G	ENST00000373736.2	-	5	511	c.505A>C	c.(505-507)Aaa>Caa	p.K169Q	NKAIN1_ENST00000398657.2_Missense_Mutation_p.K98Q|NKAIN1_ENST00000263693.1_Missense_Mutation_p.K125Q	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	169						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		AGGAACACTTTGCTCACGTAG	0.632													19	52					0	0	0	0	G	31655404	T	G	31655404	3	3	418	1	0	0	0	0	1	0	0	0	10505	1821	63	5	130	5	NKAIN1	1	31655404	Missense_Mutation	SNP	T	TCGA-HD-7832-01A-11D-2129-08	11138346	31655404	217595217	4	82900											
GRIK3	2899	broad.mit.edu	37	chr1	37271729	37271729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcgtgccgatgccgtagcCcttggagtcaatgaggcccc	6	7	15	13	3	1	1	1	1	0	0	1	3	1	2	5	3	3	1	5	3	2	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:37271729C>T	ENST00000373091.3	-	14	2306	c.2290G>A	c.(2290-2292)Ggc>Agc	p.G764S	GRIK3_ENST00000373093.4_Missense_Mutation_p.G764S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	764					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGCCGTAGCCCTTGGAGTCA	0.667													25	45					0	0	0	0	T	37271729	C	T	37271729	3	4	418	1	0	0	0	0	1	0	0	0	6825	623	22	4	481	4	GRIK3	1	37271729	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	5616325	37271729	211978892	5	82901											
SPATA6	54558	broad.mit.edu	37	chr1	48869550	48869550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaattccagccttggagcaTttccctgagaagaaaaaaga	17	8	8	8	0	0	3	0	1	0	3	2	5	2	4	3	1	2	1	3	1	6	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:48869550T>C	ENST00000371847.3	-	6	574	c.410A>G	c.(409-411)aAt>aGt	p.N137S	SPATA6_ENST00000396199.3_Missense_Mutation_p.N65S|SPATA6_ENST00000371843.3_Missense_Mutation_p.N137S|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	137					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCTTGGAGCATTTCCCTGAGA	0.313													7	19					0	0	0	0	C	48869550	T	C	48869550	3	2	418	1	0	0	0	0	1	0	0	0	15103	1493	52	5	1088	5	SPATA6	1	48869550	Missense_Mutation	SNP	T	TCGA-HD-7832-01A-11D-2129-08	11597821	48869550	200381071	6	82902											
ELAVL4	1996	broad.mit.edu	37	chr1	50663122	50663122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaatttgcttaatatGgcctatggcgtaaagaggta	12	12	11	6	1	0	1	0	0	0	1	0	2	0	2	1	4	1	3	1	4	7	6			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:50663122G>A	ENST00000371824.1	+	6	1013	c.756G>A	c.(754-756)atG>atA	p.M252I	ELAVL4_ENST00000371823.4_Missense_Mutation_p.M252I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.M257I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.M269I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.M252I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.M257I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.M255I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	252					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGCTTAATATGGCCTATGGCG	0.403													55	109					0	0	0	0	A	50663122	G	A	50663122	3	1	418	1	0	0	0	0	1	0	0	0	5090	1348	47	4	877	4	ELAVL4	1	50663122	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	1793572	50663122	198587499	7	82903											
C1orf173	127254	broad.mit.edu	37	chr1	75038685	75038685	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcttcatttgcaagCactgccttctctaaaccctg	7	13	7	14	0	2	0	1	0	1	0	3	0	2	0	2	0	6	5	2	0	3	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:75038685C>A	ENST00000326665.5	-	14	2927	c.2709G>T	c.(2707-2709)gtG>gtT	p.V903V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	903	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTGCAAGCACTGCCTTCT	0.532													78	171					1.07134e-49	1.18851e-49	1	0	A	75038685	C	A	75038685	2	1	418	1	0	0	0	0	0	0	0	1	2033	697	25	4		4	C1orf173	1	75038685	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	24375563	75038685	174211936	8	82904											
WDR63	126820	broad.mit.edu	37	chr1	85555914	85555914	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttaacaatgcatccataAggtaaaaaattgcatattaa	18	13	4	6	0	1	0	0	0	1	0	2	0	2	0	1	1	3	3	1	1	8	7			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:85555914A>T	ENST00000294664.6	+	8	1036	c.857_splice	c.e8+1	p.S286_splice	WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	286										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGCATCCATAAGGTAAAAAAT	0.279													20	21					0	0	0	0	T	85555914	A	T	85555914	5	4	418	1	0	0	0	0	0	0	1	0	17410	86	3	5	882	5	WDR63	1	85555914	Splice_Site	SNP	A	TCGA-HD-7832-01A-11D-2129-08	10517229	85555914	163694707	9	82905											
EVI5	7813	broad.mit.edu	37	chr1	93202126	93202127	+	In_Frame_Ins	INS	-	-	TGT																															actgactgtatgcgatactgINStgttcttcacccatgagaga																										TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:93202126_93202127insTGT	ENST00000370331.1	-	2	118_119	c.109_110insACA	c.(109-111)agt>ACAagt	p.37_38insT	EVI5_ENST00000543509.1_In_Frame_Ins_p.37_38insT|EVI5_ENST00000540033.1_In_Frame_Ins_p.37_38insT	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	37	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATGCGATACTGTGTTCTTCACC	0.436													56	123	---	---	---	---					TGT	93202127	-	TGT	93202126	7	5	418	1	0	1	1	0	0	0	0	0	5327	1377	48	0	2390	0	EVI5	1	93202126	In_Frame_Ins	INS	-	TCGA-HD-7832-01A-11D-2129-08	7646212	93202126	156048495	10	82906											
KPRP	448834	broad.mit.edu	37	chr1	152732834	152732834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccagcagatgccttcCtcctcctcggcggctgcagc	6	7	11	17	2	0	1	0	0	0	1	4	2	3	1	5	2	5	4	5	2	0	1	rs147534038	byFrequency	TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:152732834C>T	ENST00000368773.1	+	2	828	c.770C>T	c.(769-771)cCt>cTt	p.P257L	KPRP_ENST00000606109.1_Missense_Mutation_p.P257L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	257	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGCCTTCCTCCTCCTCGG	0.607													32	44					0	0	0	0	T	152732834	C	T	152732834	3	4	418	1	0	0	0	0	1	0	0	0	8488	681	24	4	772	4	KPRP	1	152732834	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	59530708	152732834	96517787	11	82907											
KCTD3	51133	broad.mit.edu	37	chr1	215775237	215775237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgttcctataactagttAtgacactgctggatcattcc	9	16	7	9	0	1	1	1	1	0	0	3	2	3	2	2	1	2	4	2	1	4	7			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:215775237A>G	ENST00000259154.4	+	11	1256	c.962A>G	c.(961-963)tAt>tGt	p.Y321C		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	321						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			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)		ATAACTAGTTATGACACTGCT	0.323													17	31					0	0	0	0	G	215775237	A	G	215775237	3	3	418	1	0	0	0	0	1	0	0	0	8163	449	16	5	1004	5	KCTD3	1	215775237	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08	63042403	215775237	33475384	12	82908											
OR1C1	26188	broad.mit.edu	37	chr1	247921166	247921166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagctgcaggagaggattGagatcacagaagaaatgatg	16	6	15	4	0	1	6	1	2	0	5	1	10	1	7	0	2	2	2	0	2	2	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:247921166G>A	ENST00000408896.2	-	1	816	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGAGAGGATTGAGATCACAGA	0.478													8	12					0	0	0	0	A	247921166	G	A	247921166	2	1	418	1	0	0	0	0	0	0	0	1	11023	1277	45	2		2	OR1C1	1	247921166	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	32145929	247921166	1329455	13	82909											
SOX11	6664	broad.mit.edu	37	chr2	5833021	5833021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcggccgatgaacgcgttCatggtatggtccaagatcga	11	8	13	9	5	1	2	1	1	0	1	3	4	2	2	2	3	2	2	2	3	4	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:5833021C>T	ENST00000322002.3	+	1	223	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	56					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			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)		TGAACGCGTTCATGGTATGGT	0.602													6	11					0	0	0	0	T	5833021	C	T	5833021	2	4	418	1	0	0	0	0	0	0	0	1	15030	825	29	2		2	SOX11	2	5833021	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08		5833021	237366352	14	82910											
TGOLN2	10618	broad.mit.edu	37	chr2	85554437	85554437	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcgcctccgcacccgAtttgccagtgctgtcttttg	3	13	11	14	3	2	0	0	0	2	0	3	1	3	0	4	1	3	2	4	1	0	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:85554437A>G	ENST00000377386.3	-	2	880	c.418T>C	c.(418-420)Tcg>Ccg	p.S140P	TGOLN2_ENST00000398263.2_Missense_Mutation_p.S140P|TGOLN2_ENST00000409015.1_Missense_Mutation_p.S140P|TGOLN2_ENST00000444342.2_Missense_Mutation_p.S140P|TGOLN2_ENST00000409232.3_Missense_Mutation_p.S140P|TGOLN2_ENST00000282120.2_Intron			O43493	TGON2_HUMAN	trans-golgi network protein 2	140	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TCCGCACCCGATTTGCCAGTG	0.592													201	358					0	0	0	0	G	85554437	A	G	85554437	3	3	418	1	0	0	0	0	1	0	0	0	15930	333	12	5	907	5	TGOLN2	2	85554437	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08	79721416	85554437	157644936	15	82911											
IL1R1	3554	broad.mit.edu	37	chr2	102782600	102782600	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctctacttcttgacaatAtacactttagtggagtcaaa	14	13	5	9	0	3	1	1	1	2	0	3	2	3	2	1	1	3	0	1	1	7	7			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:102782600A>G	ENST00000410023.1	+	6	832	c.514A>G	c.(514-516)Ata>Gta	p.I172V	IL1R1_ENST00000233946.3_Missense_Mutation_p.I172V|IL1R1_ENST00000424272.1_Missense_Mutation_p.I172V|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.I172V|IL1R1_ENST00000409288.1_Missense_Mutation_p.I172V|IL1R1_ENST00000409929.1_Missense_Mutation_p.I172V			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	172	Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCTTGACAATATACACTTTAG	0.413													24	40					0	0	0	0	G	102782600	A	G	102782600	3	3	418	1	0	0	0	0	1	0	0	0	7711	449	16	5	528	5	IL1R1	2	102782600	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08	17228163	102782600	140416773	16	82912											
WDR33	55339	broad.mit.edu	37	chr2	128480839	128480839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaccatattctactcCatcttcagacattccaggta	11	13	4	13	0	4	1	2	0	3	1	7	1	6	1	3	1	1	1	3	1	3	6			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:128480839C>T	ENST00000322313.4	-	12	1437	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	427					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TATTCTACTCCATCTTCAGAC	0.348													40	99					0	0	0	0	T	128480839	C	T	128480839	3	4	418	1	0	0	0	0	1	0	0	0	17383	603	21	4	2775	4	WDR33	2	128480839	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	25698239	128480839	114718534	17	82913											
TTN	7273	broad.mit.edu	37	chr2	179588170	179588170	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaagagacgggtagtgcaAgatgcttggccagcgttgtt	11	9	14	7	2	0	2	0	0	0	2	0	3	0	2	1	2	3	5	1	2	3	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:179588170A>T	ENST00000589042.1	-	74	21881	c.21657T>A	c.(21655-21657)tcT>tcA	p.S7219S	TTN_ENST00000342992.6_Silent_p.S5975S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.S6902S|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6902	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTAGTGCAAGATGCTTGGC	0.403													9	17					0	0	0	0	T	179588170	A	T	179588170	2	4	418	1	0	0	0	0	0	0	0	1	16831	59	3	5		5	TTN	2	179588170	Silent	SNP	A	TCGA-HD-7832-01A-11D-2129-08	51107331	179588170	63611203	18	82914											
TTN	7273	broad.mit.edu	37	chr2	179654095	179654095	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaatagtcacctttccatGggtaacttggatttgttctt	10	16	7	8	0	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	4	7			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:179654095G>C	ENST00000589042.1	-	13	2292	c.2068C>G	c.(2068-2070)Cat>Gat	p.H690D	TTN_ENST00000342992.6_Missense_Mutation_p.H690D|TTN_ENST00000360870.5_Missense_Mutation_p.H690D|TTN_ENST00000342175.6_Missense_Mutation_p.H644D|TTN_ENST00000460472.2_Missense_Mutation_p.H644D|TTN_ENST00000591111.1_Missense_Mutation_p.H690D|TTN_ENST00000359218.5_Missense_Mutation_p.H644D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	690							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCCATGGGTAACTTGG	0.338													37	77					0	0	0	0	C	179654095	G	C	179654095	3	2	418	1	0	0	0	0	1	0	0	0	16831	1348	47	4	109320	4	TTN	2	179654095	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	65925	179654095	63545278	19	82915											
DNAH7	56171	broad.mit.edu	37	chr2	196726633	196726633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcaatttcttccaagaatCgtgaggcaactgcctggagt	10	13	9	9	1	2	2	1	1	1	1	4	3	3	3	2	2	2	1	2	2	4	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:196726633C>T	ENST00000312428.6	-	42	7644	c.7544G>A	c.(7543-7545)cGa>cAa	p.R2515Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2515	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCAAGAATCGTGAGGCAAC	0.378													18	33					0	0	0	0	T	196726633	C	T	196726633	3	4	418	1	0	0	0	0	1	0	0	0	4642	884	31	1	4626	1	DNAH7	2	196726633	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	17072538	196726633	46472740	20	82916											
ATG16L1	55054	broad.mit.edu	37	chr2	234198586	234198586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctcaggaagtcacgaccgGactctcaaactctgggatct	10	9	10	12	2	5	0	3	0	4	0	7	4	5	3	1	3	1	0	1	3	2	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:234198586G>A	ENST00000392017.4	+	13	1547	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R	ATG16L1_ENST00000373525.5_Silent_p.R251R|ATG16L1_ENST00000392020.4_Silent_p.R411R|ATG16L1_ENST00000392018.1_Silent_p.R447R|ATG16L1_ENST00000347464.5_Silent_p.R267R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	430					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GTCACGACCGGACTCTCAAAC	0.502													18	41					0	0	0	0	A	234198586	G	A	234198586	2	1	418	1	0	0	0	0	0	0	0	1	1095	1161	41	2		2	ATG16L1	2	234198586	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	37471953	234198586	9000787	21	82917											
ASB1	51665	broad.mit.edu	37	chr2	239342262	239342262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggagcactgtgaggacacGaggctccatgatgcagctta	10	8	13	10	1	0	2	0	2	0	0	1	5	1	4	1	3	3	4	1	3	1	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:239342262G>A	ENST00000264607.4	+	2	364	c.117G>A	c.(115-117)acG>acA	p.T39T	ASB1_ENST00000409297.1_Silent_p.T39T|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	39					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTGAGGACACGAGGCTCCATG	0.587													10	22					0	0	0	0	A	239342262	G	A	239342262	2	1	418	1	0	0	0	0	0	0	0	1	1017	1045	37	1		1	ASB1	2	239342262	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	5143676	239342262	3857111	22	82918											
PLA1A	51365	broad.mit.edu	37	chr3	119327618	119327618	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttggccccctgtctaggGttttaggaacaaagccttcc	7	14	9	11	0	1	0	0	0	1	0	2	1	2	1	4	3	2	1	4	3	4	6			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:119327618G>T	ENST00000273371.4	+	3	349	c.275_splice	c.e3-1	p.V93_splice	PLA1A_ENST00000495992.1_Splice_Site_p.V93_splice|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Splice_Site_p.V77_splice	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	93					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGTCTAGGGTTTTAGGAAC	0.408													44	137					3.86236e-30	4.25159e-30	1	0	T	119327618	G	T	119327618	5	4	418	1	0	0	0	0	0	0	1	0	12060	1275	44	4	287	4	PLA1A	3	119327618	Splice_Site	SNP	G	TCGA-HD-7832-01A-11D-2129-08		119327618	78694812	23	82919											
SEMA5B	54437	broad.mit.edu	37	chr3	122634428	122634428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcacatggttgccatggtGaccatgggccgaagccccca	8	7	12	14	1	1	1	1	1	0	0	1	2	1	1	5	3	2	2	5	3	1	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:122634428G>A	ENST00000195173.4	-	14	2150	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S670L|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S616L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	616					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGCCATGGTGACCATGGGCC	0.587													13	52					0	0	0	0	A	122634428	G	A	122634428	3	1	418	1	0	0	0	0	1	0	0	0	14125	1294	45	2	1648	2	SEMA5B	3	122634428	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	3306810	122634428	75388002	24	82920											
GMPS	8833	broad.mit.edu	37	chr3	155652794	155652794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgctcagtactttacGccaagctgattttgaggccc	8	11	12	10	1	1	2	1	2	0	0	1	2	1	2	2	3	4	3	2	3	3	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:155652794G>T	ENST00000496455.1	+	14	2101	c.1766G>T	c.(1765-1767)cGc>cTc	p.R589L	GMPS_ENST00000295920.7_Missense_Mutation_p.R490L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	589					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTACTTTACGCCAAGCTGAT	0.408			T	MLL	AML								58	162					3.77215e-22	4.0889e-22	1	0	T	155652794	G	T	155652794	3	4	418	1	0	0	0	0	1	0	0	0	6549	1087	38	3	1820	3	GMPS	3	155652794	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	33018366	155652794	42369636	25	82921											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	46					0	0	0	0	A	178936082	G	A	178936082	3	1	418	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	23283288	178936082	19086348	26	82922											
MUC7	4589	broad.mit.edu	37	chr4	71346725	71346725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaaattcccaaatcctcaCcagccacctaaacatccaga	15	6	2	18	0	1	1	1	0	0	1	4	1	4	1	7	0	2	0	7	0	4	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:71346725C>T	ENST00000413702.1	+	4	552	c.264C>T	c.(262-264)caC>caT	p.H88H	MUC7_ENST00000304887.5_Silent_p.H88H|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.H88H	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	88						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAAATCCTCACCAGCCACCTA	0.458													29	65					0	0	0	0	T	71346725	C	T	71346725	2	4	418	1	0	0	0	0	0	0	0	1	10051	506	18	4		4	MUC7	4	71346725	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08		71346725	119807551	27	82923											
INTU	27152	broad.mit.edu	37	chr4	128564981	128564981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagtccaatcagaagacagGagtcattgtccaacagcgat	14	8	9	10	1	3	2	3	0	0	2	5	4	5	3	2	1	2	0	2	1	3	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:128564981G>A	ENST00000335251.5	+	2	555	c.452G>A	c.(451-453)gGa>gAa	p.G151E	INTU_ENST00000296461.5_Missense_Mutation_p.G151E	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	151										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CAGAAGACAGGAGTCATTGTC	0.388													36	63					0	0	0	0	A	128564981	G	A	128564981	3	1	418	1	0	0	0	0	1	0	0	0	7839	1174	41	2	458	2	INTU	4	128564981	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	57218256	128564981	62589295	28	82924											
TBC1D9	23158	broad.mit.edu	37	chr4	141543481	141543481	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacttgaccagggcaggCtcagttaagagggaggccag	12	6	15	8	0	1	2	1	1	0	1	1	3	1	3	2	4	1	4	2	4	3	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:141543481C>T	ENST00000442267.2	-	21	3743	c.3669G>A	c.(3667-3669)gaG>gaA	p.E1223E		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1223						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCAGGGCAGGCTCAGTTAAGA	0.627													9	14					0	0	0	0	T	141543481	C	T	141543481	2	4	418	1	0	0	0	0	0	0	0	1	15721	796	28	4		4	TBC1D9	4	141543481	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	12978500	141543481	49610795	29	82925											
CD180	4064	broad.mit.edu	37	chr5	66479050	66479050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagattcccttaagatggcTaagagaatcaatgctgtcgc	12	11	10	8	1	1	3	1	0	0	3	3	4	2	3	1	1	1	3	1	1	5	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:66479050T>C	ENST00000256447.4	-	3	1778	c.1621A>G	c.(1621-1623)Agc>Ggc	p.S541G		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	541					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTAAGATGGCTAAGAGAATCA	0.468													9	53					0	0	0	0	C	66479050	T	C	66479050	3	2	418	1	0	0	0	0	1	0	0	0	3001	1522	53	5	368	5	CD180	5	66479050	Missense_Mutation	SNP	T	TCGA-HD-7832-01A-11D-2129-08		66479050	114436210	30	82926											
FBN2	2201	broad.mit.edu	37	chr5	127595365	127595365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcggaagacgctgtcatCgttcccttgagagatgacat	10	10	12	9	3	1	4	1	2	0	2	3	7	2	5	1	1	1	2	1	1	1	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:127595365C>T	ENST00000508053.1	-	71	9495	c.8521G>A	c.(8521-8523)Gat>Aat	p.D2841N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2841N			P35556	FBN2_HUMAN	fibrillin 2	2841					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGCTGTCATCGTTCCCTTGA	0.547													34	105					0	0	0	0	T	127595365	C	T	127595365	3	4	418	1	0	0	0	0	1	0	0	0	5748	884	31	1	221	1	FBN2	5	127595365	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	61116315	127595365	53319895	31	82927											
ADAMTS19	171019	broad.mit.edu	37	chr5	128977612	128977612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagaatgcagaaccaagCtagacccaccaatggatgga	18	4	10	9	0	0	4	0	0	0	4	0	6	0	6	3	2	3	2	3	2	6	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:128977612C>T	ENST00000274487.4	+	11	1958	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	605	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGAACCAAGCTAGACCCACC	0.398													19	75					0	0	0	0	T	128977612	C	T	128977612	2	4	418	1	0	0	0	0	0	0	0	1	264	796	28	4		4	ADAMTS19	5	128977612	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	1382247	128977612	51937648	32	82928											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857271	140857271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccctagactatgaggatCggcgggaatttgaattaaca	12	10	11	8	2	0	3	0	2	0	1	1	5	0	5	2	3	2	0	2	3	5	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:140857271C>T	ENST00000308177.3	+	1	1692	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1												p.R530R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGAGGATCGGCGGGAATT	0.493													17	51					0	0	0	0	T	140857271	C	T	140857271	3	4	418	1	0	0	0	0	1	0	0	0	11640	875	31	1	1590	1	PCDHGC3	5	140857271	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	11879659	140857271	40057989	33	82929											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216430	149216430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcagcggcgagagcagcttCctcccagaggaggaagagga	12	3	16	10	2	0	3	0	0	0	3	2	7	2	6	2	4	4	3	2	4	1	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:149216430C>T	ENST00000309241.5	+	8	2444	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	PPARGC1B_ENST00000394320.3_Silent_p.F804F|PPARGC1B_ENST00000360453.4_Silent_p.F765F|PPARGC1B_ENST00000403750.1_Silent_p.F740F	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	804	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGAGCAGCTTCCTCCCAgagg	0.607													122	24					0	0	0	0	T	149216430	C	T	149216430	2	4	418	1	0	0	0	0	0	0	0	1	12372	854	30	2		2	PPARGC1B	5	149216430	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	8359159	149216430	31698830	34	82930											
SNX14	57231	broad.mit.edu	37	chr6	86259572	86259572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatattcttctaaagcagcTtgctgtaaaaactctgtatt	12	15	5	9	0	3	0	0	0	3	0	3	0	3	0	1	0	4	5	1	0	7	8			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:86259572T>C	ENST00000314673.3	-	8	836	c.660A>G	c.(658-660)caA>caG	p.Q220Q	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Silent_p.Q220Q|SNX14_ENST00000513865.1_Silent_p.Q220Q|SNX14_ENST00000346348.3_Silent_p.Q176Q|SNX14_ENST00000505648.1_Silent_p.Q168Q	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	220	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			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)		CTAAAGCAGCTTGCTGTAAAA	0.308													23	42					0	0	0	0	C	86259572	T	C	86259572	2	2	418	1	0	0	0	0	0	0	0	1	14973	1606	56	5		5	SNX14	6	86259572	Silent	SNP	T	TCGA-HD-7832-01A-11D-2129-08		86259572	84855495	35	82931											
OPRM1	4988	broad.mit.edu	37	chr6	154412611	154412611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagaactaatcatcaggtaCgcagtctctagaattaggta	15	11	8	7	1	3	2	2	0	1	2	4	2	3	2	0	2	2	3	0	2	8	6	rs79668187		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:154412611C>T	ENST00000428397.2	+	3	1364	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000229768.5_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000414028.2_Intron	NM_001008504.2	NP_001008504.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	390					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.?(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCATCAGGTACGCAGTCTCTA	0.408													8	20					0	0	0	0	T	154412611	C	T	154412611	3	4	418	1	0	0	0	0	1	0	0	0	10958	536	19	1	1512	1	OPRM1	6	154412611	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	68153039	154412611	16702456	36	82932											
WDR27	253769	broad.mit.edu	37	chr6	170052099	170052099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtccttcatgacgttccGtgcagctgtggaaaggcaat	8	12	12	9	2	1	1	1	1	0	0	3	2	3	2	2	3	2	4	2	3	2	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:170052099G>A	ENST00000333572.6	-	14	1927	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	WDR27_ENST00000423258.1_Missense_Mutation_p.R343W|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.R470W			A2RRH5	WDR27_HUMAN	WD repeat domain 27	440			P -> L (in dbSNP:rs34313252).							endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATGACGTTCCGTGCAGCTGTG	0.413													9	19					0	0	0	0	A	170052099	G	A	170052099	3	1	418	1	0	0	0	0	1	0	0	0	17380	1144	40	1	1213	1	WDR27	6	170052099	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	15639488	170052099	1062968	37	82933											
SDK1	221935	broad.mit.edu	37	chr7	4198148	4198148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattggggacagtgacttcaGttcagagacagaggcggtga	11	8	15	7	1	2	4	2	2	0	2	2	6	2	5	0	4	0	1	0	4	0	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:4198148G>A	ENST00000404826.2	+	31	4833	c.4694G>A	c.(4693-4695)aGt>aAt	p.S1565N	SDK1_ENST00000389531.3_Missense_Mutation_p.S1565N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1565	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTGACTTCAGTTCAGAGACA	0.627													15	51					0	0	0	0	A	4198148	G	A	4198148	3	1	418	1	0	0	0	0	1	0	0	0	14055	1029	36	4	4816	4	SDK1	7	4198148	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08		4198148	154940515	38	82934											
ANLN	54443	broad.mit.edu	37	chr7	36456706	36456706	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtttcactgaatgcgaaAtgacgaaatctagccctttg	12	12	9	8	2	2	2	1	2	1	0	2	4	2	2	1	1	2	1	1	1	5	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:36456706A>C	ENST00000265748.2	+	9	1761	c.1540A>C	c.(1540-1542)Atg>Ctg	p.M514L	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Intron	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	514	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAATGCGAAATGACGAAATC	0.294													20	23					0	0	0	0	C	36456706	A	C	36456706	3	2	418	1	0	0	0	0	1	0	0	0	693	101	4	5	1574	5	ANLN	7	36456706	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08	32258558	36456706	122681957	39	82935											
SFRP4	6424	broad.mit.edu	37	chr7	37951727	37951727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttgtgcctaccttgagCgccactcgtaacacatgatg	8	12	8	13	2	1	2	0	2	1	0	2	2	1	2	3	0	4	1	3	0	2	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:37951727C>T	ENST00000436072.2	-	4	1162	c.785G>A	c.(784-786)cGc>cAc	p.R262H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	262	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTACCTTGAGCGCCACTCGTA	0.443													18	51					0	0	0	0	T	37951727	C	T	37951727	3	4	418	1	0	0	0	0	1	0	0	0	14250	768	27	1	267	1	SFRP4	7	37951727	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	1495021	37951727	121186936	40	82936											
CDK13	8621	broad.mit.edu	37	chr7	40134010	40134010	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaggtgggattgattatCaagcaggagacacttacgtg	13	9	14	5	1	1	3	1	1	0	2	1	6	1	4	0	3	2	1	0	3	4	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:40134010C>T	ENST00000181839.4	+	14	4575	c.3970C>T	c.(3970-3972)Caa>Taa	p.Q1324*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.Q1264*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1324					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GATTGATTATCAAGCAGGAGA	0.483													29	52					0	0	0	0	T	40134010	C	T	40134010	4	4	418	1	0	0	0	0	0	1	0	0	3158	827	29	2	4024	2	CDK13	7	40134010	Nonsense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	2182283	40134010	119004653	41	82937											
EGFR	1956	broad.mit.edu	37	chr7	55268060	55268060	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccgtgagttgatcatcgAattctccaaaatggcccgag	10	11	10	10	3	2	2	1	2	1	0	5	4	3	2	3	1	0	2	3	1	3	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:55268060A>C	ENST00000275493.2	+	24	3077	c.2900A>C	c.(2899-2901)gAa>gCa	p.E967A	EGFR_ENST00000454757.2_Missense_Mutation_p.E914A|EGFR_ENST00000455089.1_Missense_Mutation_p.E922A|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	967	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTGATCATCGAATTCTCCAAA	0.473		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			41	70					0	0	0	0	C	55268060	A	C	55268060	3	2	418	1	0	0	0	0	1	0	0	0	5003	246	9	5	3258	5	EGFR	7	55268060	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08	15134050	55268060	103870603	42	82938											
TRPV5	56302	broad.mit.edu	37	chr7	142605866	142605866	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccactctcagccccagaGggctgtttctcagatggatg	7	10	11	13	0	2	2	2	0	2	2	5	3	3	3	3	2	1	2	3	2	0	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:142605866G>T	ENST00000265310.1	-	15	2352	c.2004C>A	c.(2002-2004)ccC>ccA	p.P668P		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	668					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCCCCAGAGGGCTGTTTCT	0.567													18	30					2.35188e-11	2.51103e-11	1	0	T	142605866	G	T	142605866	2	4	418	1	0	0	0	0	0	0	0	1	16694	987	35	4		4	TRPV5	7	142605866	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	87337806	142605866	16532797	43	82939											
FAM150A	389658	broad.mit.edu	37	chr8	53452400	53452400	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttacttacaagctggcgTtgagcactccctggtattgt	9	13	10	9	1	0	1	0	1	0	0	1	1	1	1	1	2	4	5	1	2	5	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:53452400T>C	ENST00000358543.4	-	3	566	c.316A>G	c.(316-318)Acg>Gcg	p.T106A	FAM150A_ENST00000523939.1_Missense_Mutation_p.T106A	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	106						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				CAAGCTGGCGTTGAGCACTCC	0.388													39	30					0	0	0	0	C	53452400	T	C	53452400	3	2	418	1	0	0	0	0	1	0	0	0	5497	1725	60	5	81	5	FAM150A	8	53452400	Missense_Mutation	SNP	T	TCGA-HD-7832-01A-11D-2129-08		53452400	92911622	44	82940											
CHD7	55636	broad.mit.edu	37	chr8	61765709	61765709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggggcaggtaatacatcttCcttgaacccactggcagttg	10	10	11	10	0	1	1	0	1	1	0	2	1	2	1	2	4	2	4	2	4	3	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:61765709C>T	ENST00000423902.2	+	31	6904	c.6425C>T	c.(6424-6426)tCc>tTc	p.S2142F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2142					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AATACATCTTCCTTGAACCCA	0.463													29	19					0	0	0	0	T	61765709	C	T	61765709	3	4	418	1	0	0	0	0	1	0	0	0	3359	855	30	2	6543	2	CHD7	8	61765709	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	8313309	61765709	84598313	45	82941											
FABP9	646480	broad.mit.edu	37	chr8	82373746	82373746	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttccaggttcccaagaAgggctcaaccatcatggaac	12	7	9	13	0	2	1	2	0	0	1	4	2	4	2	3	3	3	3	3	3	4	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:82373746A>G	ENST00000379071.2	-	1	68	c.13T>C	c.(13-15)Ttc>Ctc	p.F5L	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	5							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GTTCCCAAGAAGGGCTCAACC	0.403													42	147					0	0	0	0	G	82373746	A	G	82373746	3	3	418	1	0	0	0	0	1	0	0	0	5404	72	3	5	400	5	FABP9	8	82373746	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08	20608037	82373746	63990276	46	82942											
ASAP1	50807	broad.mit.edu	37	chr8	131172152	131172152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accccttcttttcactgccaTattccttattgccctggagc	6	15	5	15	0	2	0	1	0	1	0	3	1	3	1	5	1	3	0	5	1	2	7			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:131172152T>C	ENST00000357668.1	-	11	995	c.968A>G	c.(967-969)tAt>tGt	p.Y323C	ASAP1_ENST00000518721.1_Missense_Mutation_p.Y323C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	323					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCACTGCCATATTCCTTATT	0.438													168	123					0	0	0	0	C	131172152	T	C	131172152	3	2	418	1	0	0	0	0	1	0	0	0	1014	1406	49	5	2497	5	ASAP1	8	131172152	Missense_Mutation	SNP	T	TCGA-HD-7832-01A-11D-2129-08	48798406	131172152	15191870	47	82943											
PTK2	5747	broad.mit.edu	37	chr8	141900671	141900671	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagcatctccatgcctgaTaatactggcccaggtggttg	9	11	11	10	0	1	1	0	1	1	0	2	1	1	1	3	3	3	3	3	3	3	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:141900671T>C	ENST00000522684.1	-	3	395	c.166A>G	c.(166-168)Atc>Gtc	p.I56V	PTK2_ENST00000340930.3_Missense_Mutation_p.I56V|PTK2_ENST00000520892.1_Missense_Mutation_p.I56V|PTK2_ENST00000535192.1_Missense_Mutation_p.I56V|PTK2_ENST00000517887.1_Missense_Mutation_p.I100V|PTK2_ENST00000395218.2_Missense_Mutation_p.I56V|PTK2_ENST00000521059.1_Missense_Mutation_p.I56V|PTK2_ENST00000519419.1_Missense_Mutation_p.I100V|PTK2_ENST00000519881.1_Missense_Mutation_p.I56V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	56	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCATGCCTGATAATACTGGCC	0.393													29	104					0	0	0	0	C	141900671	T	C	141900671	3	2	418	1	0	0	0	0	1	0	0	0	12842	1406	49	5	3112	5	PTK2	8	141900671	Missense_Mutation	SNP	T	TCGA-HD-7832-01A-11D-2129-08	10728519	141900671	4463351	48	82944											
ZNF883	169834	broad.mit.edu	37	chr9	115759580	115759580	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcattacactggtaGggtttctctcctgtatgcgt	7	15	8	11	1	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	3	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr9:115759580G>C	ENST00000427548.1	-	0	2233							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TACACTGGTAGGGTTTCTCTC	0.388													18	170					0	0	0	0	C	115759580	G	C	115759580	1	2	418	0	1	0	0	0	0	0	0	0	18291	987	35	4		4	ZNF883	9	115759580	RNA	SNP	G	TCGA-HD-7832-01A-11D-2129-08		115759580	25453851	49	82945											
OLAH	55301	broad.mit.edu	37	chr10	15107610	15107610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcatcgcattcccaaaGatgatgaattgtcagaagaa	14	9	9	9	1	1	5	1	2	0	3	3	5	2	5	2	1	0	2	2	1	4	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:15107610G>T	ENST00000378217.3	+	7	776	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	OLAH_ENST00000378228.3_Missense_Mutation_p.D144Y|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	144					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CATTCCCAAAGATGATGAATT	0.393													23	33					2.48779e-11	2.63632e-11	1	0	T	15107610	G	T	15107610	3	4	418	1	0	0	0	0	1	0	0	0	10922	942	33	2	611	2	OLAH	10	15107610	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08		15107610	120427137	50	82946											
GPR158	57512	broad.mit.edu	37	chr10	25886968	25886968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacagggaaatccaaggagGagaccctgaaaaaccgagtc	17	3	11	10	1	0	2	0	1	0	1	2	6	1	4	3	3	1	0	3	3	4	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:25886968G>A	ENST00000376351.3	+	11	2772	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	805						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						ATCCAAGGAGGAGACCCTGAA	0.542													31	52					0	0	0	0	A	25886968	G	A	25886968	3	1	418	1	0	0	0	0	1	0	0	0	6712	1175	41	2	2455	2	GPR158	10	25886968	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	10779358	25886968	109647779	51	82947											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940081	70940081	+	Frame_Shift_Del	DEL	C	C	-																															gtgccctattgtgggctcggCtcccggcggggcgccaggct																										TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:70940081delC	ENST00000359655.4	+	1	94	c.34delC	c.(34-36)tcfs	p.L12fs	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	12					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGGCTCGGCTCCCGGCGGG	0.687													22	29	---	---	---	---					-	70940081	C	-	70940081	7	5	418	1	0	1	0	1	0	0	0	0	15492	797	28	0	36	0	SUPV3L1	10	70940081	Frame_Shift_Del	DEL	C	TCGA-HD-7832-01A-11D-2129-08	45053113	70940081	64594666	52	82948											
TIAL1	7073	broad.mit.edu	37	chr10	121341997	121341998	+	In_Frame_Ins	INS	-	-	AGCAGCTAATGC																															aaaatttttctcccattcatINSagcagctaatgcagcagctg																										TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:121341997_121341998insAGCAGCTAATGC	ENST00000369093.2	-	3	281_282	c.252_253insGCATTAGCTGCT	c.(250-255)gctgaa>gcGCATTAGCTGCTtgaa	p.84_85AE>AH*LLE	TIAL1_ENST00000436547.2_In_Frame_Ins_p.67_68AE>AH*LLE|TIAL1_ENST00000369092.4_5'UTR	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	67	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTCCCATTCATAGCAGCTAATG	0.371													11	184	---	---	---	---					AGCAGCTAATGC	121341998	-	AGCAGCTAATGC	121341997	7	5	418	1	0	1	1	0	0	0	0	0	15983	1406	49	0	965	0	TIAL1	10	121341997	In_Frame_Ins	INS	-	TCGA-HD-7832-01A-11D-2129-08	50401916	121341997	14192750	53	82949											
INPP5F	22876	broad.mit.edu	37	chr10	121563719	121563721	+	In_Frame_Del	DEL	AGA	AGA	-																															ggtagaccaggcaggaagagAgaagattattggcgatgctt																										TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:121563719_121563721delAGA	ENST00000361976.2	+	10	1317_1319	c.1151_1153delAGA	c.(1150-1155)gag>g	p.EK384del		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	384	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GCAGGAAGAGAGAAGATTATTGG	0.36													40	90	---	---	---	---					-	121563721	AGA	-	121563719	7	5	418	1	0	1	0	1	0	0	0	0	7811	304	11	0	1189	0	INPP5F	10	121563719	In_Frame_Del	DEL	AGA	TCGA-HD-7832-01A-11D-2129-08	221722	121563719	13971028	54	82950											
UROS	7390	broad.mit.edu	37	chr10	127496033	127496033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttccacaggtttctccttCtgtatccaggccaattttac	8	16	5	12	0	2	0	0	0	2	0	5	0	4	0	4	2	1	2	4	2	3	6			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:127496033C>T	ENST00000368778.3	-	6	536	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	UROS_ENST00000368786.1_Missense_Mutation_p.E115K|UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368774.1_Missense_Mutation_p.E115K|UROS_ENST00000368797.4_Missense_Mutation_p.E115K			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	115					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GTTTCTCCTTCTGTATCCAGG	0.353													14	43					0	0	0	0	T	127496033	C	T	127496033	3	4	418	1	0	0	0	0	1	0	0	0	17126	922	32	2	474	2	UROS	10	127496033	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	5932314	127496033	8038714	55	82951											
STK32C	282974	broad.mit.edu	37	chr10	134036234	134036234	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctggactccaggatcaTctcctccagctcaaaggtgg	8	8	12	13	0	3	0	2	0	1	0	6	2	5	2	4	5	1	1	4	5	1	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:134036234T>A	ENST00000368622.1	-	10	1192	c.811A>T	c.(811-813)Atg>Ttg	p.M271L	STK32C_ENST00000368625.4_Missense_Mutation_p.M401L			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	388	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCCAGGATCATCTCCTCCAGC	0.627													7	6					0	0	0	0	A	134036234	T	A	134036234	3	1	418	1	0	0	0	0	1	0	0	0	15389	1435	50	5	310	5	STK32C	10	134036234	Missense_Mutation	SNP	T	TCGA-HD-7832-01A-11D-2129-08	6540201	134036234	1498513	56	82952											
PHRF1	57661	broad.mit.edu	37	chr11	611008	611008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggtgaagctggccAtcaagcccttctaccagaag	11	7	13	10	0	2	2	1	1	1	1	2	4	2	4	3	4	3	1	3	4	4	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:611008A>T	ENST00000264555.5	+	17	4860	c.4732A>T	c.(4732-4734)Atc>Ttc	p.I1578F	PHRF1_ENST00000533464.1_Missense_Mutation_p.I1574F|PHRF1_ENST00000413872.2_Missense_Mutation_p.I1576F|PHRF1_ENST00000416188.2_Missense_Mutation_p.I1577F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1578							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAAGCTGGCCATCAAGCCCTT	0.592													9	17					0	0	0	0	T	611008	A	T	611008	3	4	418	1	0	0	0	0	1	0	0	0	11933	217	8	5	4791	5	PHRF1	11	611008	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08		611008	134395508	57	82953											
IGF2	3481	broad.mit.edu	37	chr11	2154782	2154782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggtcgacacgtccctctCggacttggcgggggtagcac	6	7	16	12	4	1	0	0	0	1	0	4	2	2	1	1	6	1	2	1	6	1	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:2154782C>T	ENST00000416167.2	-	3	1437	c.271G>A	c.(271-273)Gag>Aag	p.E91K	IGF2_ENST00000381392.1_Missense_Mutation_p.E94K|IGF2_ENST00000418738.2_Missense_Mutation_p.E91K|IGF2_ENST00000381406.4_Missense_Mutation_p.E94K|IGF2_ENST00000434045.2_Missense_Mutation_p.E147K|IGF2_ENST00000300632.5_Missense_Mutation_p.E91K|IGF2_ENST00000381395.1_Missense_Mutation_p.E91K|IGF2_ENST00000337883.6_Missense_Mutation_p.E91K|IGF2_ENST00000381389.1_Missense_Mutation_p.E91K			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	91	D.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGTCCCTCTCGGACTTGGCG	0.652													15	15					0	0	0	0	T	2154782	C	T	2154782	3	4	418	1	0	0	0	0	1	0	0	0	7625	893	31	1	279	1	IGF2	11	2154782	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	1543774	2154782	132851734	58	82954											
OR8K3	219473	broad.mit.edu	37	chr11	56085986	56085986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctcagacatctggctttCatggatcttggttattcaac	8	17	7	9	0	5	1	3	0	3	1	6	2	5	2	0	3	1	2	0	3	2	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:56085986C>T	ENST00000312711.1	+	1	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATCTGGCTTTCATGGATCTTG	0.383													43	87					0	0	0	0	T	56085986	C	T	56085986	2	4	418	1	0	0	0	0	0	0	0	1	11315	825	29	2		2	OR8K3	11	56085986	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	53931204	56085986	78920530	59	82955											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714808	65714808	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgcaaaacctgaaggCgagacagcagctgggagcct	13	3	15	10	2	0	3	0	1	0	2	0	5	0	4	2	3	4	3	2	3	3	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:65714808C>T	ENST00000532620.1	+	0	743							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AACCTGAAGGCGAGACAGCAG	0.652													5	14					0	0	0	0	T	65714808	C	T	65714808	1	4	418	0	1	0	0	0	0	0	0	0	16713	768	27	1		1	TSGA10IP	11	65714808	RNA	SNP	C	TCGA-HD-7832-01A-11D-2129-08	9628822	65714808	69291708	60	82956											
CNTN5	53942	broad.mit.edu	37	chr11	100141898	100141898	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgggtggaatatgaatttCgagtggtagccaccaaccct	10	10	11	10	1	0	1	0	1	0	0	1	3	0	2	4	3	2	1	4	3	5	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:100141898C>T	ENST00000524871.1	+	18	2529	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	CNTN5_ENST00000527185.1_Nonsense_Mutation_p.R747*|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.R673*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.R747*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.R747*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	747	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATATGAATTTCGAGTGGTAGC	0.458													10	30					0	0	0	0	T	100141898	C	T	100141898	4	4	418	1	0	0	0	0	0	1	0	0	3674	876	31	1	2301	1	CNTN5	11	100141898	Nonsense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	34427090	100141898	34864618	61	82957											
GRAMD1B	57476	broad.mit.edu	37	chr11	123471189	123471189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctagcacttcttcacttCgtttggggcccgggatagga	8	12	11	10	2	3	0	1	0	2	0	4	2	3	2	1	4	1	2	1	4	3	6			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:123471189C>T	ENST00000529750.1	+	7	881	c.554C>T	c.(553-555)tCg>tTg	p.S185L	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S192L|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S185L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	185						integral to membrane		p.S185L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCTTCACTTCGTTTGGGGCC	0.408													12	20					0	0	0	0	T	123471189	C	T	123471189	3	4	418	1	0	0	0	0	1	0	0	0	6798	893	31	1	580	1	GRAMD1B	11	123471189	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	23329291	123471189	11535327	62	82958											
A2M	2	broad.mit.edu	37	chr12	9265043	9265043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcctcgttcttaaccatCactgtggtccgcttcttaaa	7	15	6	13	2	3	0	1	0	2	0	6	0	5	0	3	1	1	2	3	1	3	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:9265043C>T	ENST00000318602.7	-	3	667	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	120					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCTTAACCATCACTGTGGTCC	0.453													15	22					0	0	0	0	T	9265043	C	T	9265043	2	4	418	1	0	0	0	0	0	0	0	1	4	813	29	2		2	A2M	12	9265043	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08		9265043	124586852	63	82959											
SLC2A13	114134	broad.mit.edu	37	chr12	40158310	40158310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatgttagtgaaaccaGgacattgaaaatccagttta	18	11	7	5	0	0	2	0	2	0	0	1	3	1	3	2	1	1	2	2	1	8	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:40158310G>A	ENST00000280871.4	-	9	1722	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	558						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AGTGAAACCAGGACATTGAAA	0.328										HNSCC(50;0.14)			26	63					0	0	0	0	A	40158310	G	A	40158310	2	1	418	1	0	0	0	0	0	0	0	1	14630	991	35	4		4	SLC2A13	12	40158310	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	30893267	40158310	93693585	64	82960											
LRRK2	120892	broad.mit.edu	37	chr12	40758787	40758787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggatctttcaactcGtcgacttatacgtgtaattt	9	16	6	10	3	2	0	1	0	1	0	5	2	3	1	1	1	2	1	1	1	4	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:40758787G>A	ENST00000298910.7	+	49	7383	c.7325G>A	c.(7324-7326)cGt>cAt	p.R2442H		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2442					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTTCAACTCGTCGACTTATA	0.398											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	26	42					0	0	0	0	A	40758787	G	A	40758787	3	1	418	1	0	0	0	0	1	0	0	0	9097	1145	40	1	7519	1	LRRK2	12	40758787	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	600477	40758787	93093108	65	82961											
HOXC9	3225	broad.mit.edu	37	chr12	54396311	54396311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactggagaaggagtttctCttcaatatgtatttaaccag	13	13	9	6	0	2	1	1	0	1	1	3	4	2	2	1	2	2	2	1	2	6	6			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:54396311C>T	ENST00000303450.4	+	2	706	c.636C>T	c.(634-636)ctC>ctT	p.L212L	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.L212L	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	212					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGGAGTTTCTCTTCAATATGT	0.547													25	56					0	0	0	0	T	54396311	C	T	54396311	2	4	418	1	0	0	0	0	0	0	0	1	7367	900	32	2		2	HOXC9	12	54396311	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	13637524	54396311	79455584	66	82962											
ERBB3	2065	broad.mit.edu	37	chr12	56495083	56495083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gactcctgttaccccactctCcccacccgggttagaggaag	8	8	9	16	1	1	1	0	0	1	1	3	3	2	2	6	2	1	2	6	2	3	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:56495083C>T	ENST00000267101.3	+	27	3880	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	ERBB3_ENST00000553131.1_Missense_Mutation_p.S388F|ERBB3_ENST00000549832.1_Missense_Mutation_p.S267F|ERBB3_ENST00000450146.2_Missense_Mutation_p.S504F|ERBB3_ENST00000415288.2_Missense_Mutation_p.S1088F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1147					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCCCACTCTCCCCACCCGGG	0.572													22	35					0	0	0	0	T	56495083	C	T	56495083	3	4	418	1	0	0	0	0	1	0	0	0	5246	855	30	2	3677	2	ERBB3	12	56495083	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	2098772	56495083	77356812	67	82963											
AVPR1A	552	broad.mit.edu	37	chr12	63544545	63544545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggcttgtgttgccagcGccggtggccagaggccacca	5	7	14	15	3	0	1	0	0	0	1	1	1	1	1	6	4	2	2	6	4	0	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:63544545G>A	ENST00000299178.2	-	1	177	c.72C>T	c.(70-72)ggC>ggT	p.G24G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	24					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGTTGCCAGCGCCGGTGGCCA	0.711													15	28					0	0	0	0	A	63544545	G	A	63544545	2	1	418	1	0	0	0	0	0	0	0	1	1235	1074	38	1		1	AVPR1A	12	63544545	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	7049462	63544545	70307350	68	82964											
PPFIA2	8499	broad.mit.edu	37	chr12	81746976	81746976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcggaatgaccacttggaGagagaagatccattgagcta	14	8	11	8	1	0	5	0	2	0	3	2	8	1	6	2	2	1	1	2	2	3	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:81746976G>C	ENST00000550584.2	-	16	2211	c.1916C>G	c.(1915-1917)tCt>tGt	p.S639C	PPFIA2_ENST00000443686.3_Missense_Mutation_p.S540C|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S639C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S621C|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S206C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S486C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S639C|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S621C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S639C|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S565C	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	565										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCACTTGGAGAGAGAAGATC	0.408													28	51					0	0	0	0	C	81746976	G	C	81746976	3	2	418	1	0	0	0	0	1	0	0	0	12381	942	33	2	1921	2	PPFIA2	12	81746976	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	18202431	81746976	52104919	69	82965											
WSCD2	9671	broad.mit.edu	37	chr12	108604016	108604016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggcgagcgaggcagcGtgtgcggcggcgccaaccgc	7	2	19	13	7	0	0	0	0	0	0	0	2	0	0	2	4	4	2	2	4	2	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:108604016G>A	ENST00000332082.4	+	5	1434	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	WSCD2_ENST00000547525.1_Missense_Mutation_p.V206M|WSCD2_ENST00000261400.3_Missense_Mutation_p.V206M|WSCD2_ENST00000549903.1_Missense_Mutation_p.V206M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	206	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGAGGCAGCGTGTGCGGCGG	0.682													7	10					0	0	0	0	A	108604016	G	A	108604016	3	1	418	1	0	0	0	0	1	0	0	0	17503	1145	40	1	626	1	WSCD2	12	108604016	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	26857040	108604016	25247879	70	82966											
SLITRK5	26050	broad.mit.edu	37	chr13	88329719	88329719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgctggtcatgaagcgcagGaagaagaaccagagcgacca	14	4	14	9	2	1	4	1	1	0	3	1	6	1	5	2	2	4	2	2	2	4	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr13:88329719G>A	ENST00000325089.6	+	2	2295	c.2076G>A	c.(2074-2076)agG>agA	p.R692R	SLITRK5_ENST00000400028.3_Silent_p.R451R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	692						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGAAGCGCAGGAAGAAGAACC	0.607													6	47					0	0	0	0	A	88329719	G	A	88329719	2	1	418	1	0	0	0	0	0	0	0	1	14834	1165	41	2		2	SLITRK5	13	88329719	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08		88329719	26840159	71	82967											
MCF2L	23263	broad.mit.edu	37	chr13	113730378	113730378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggctgccctccaggaaatCgagaagtttttggagaccgg	10	8	14	9	2	0	2	0	0	0	2	2	6	1	3	3	4	1	2	3	4	2	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr13:113730378C>T	ENST00000397030.1	+	12	1543	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	MCF2L_ENST00000375604.2_Silent_p.I526I|MCF2L_ENST00000375608.3_Silent_p.I499I|MCF2L_ENST00000423482.2_Silent_p.I467I|MCF2L_ENST00000375601.3_Silent_p.I473I|MCF2L_ENST00000442652.2_Silent_p.I499I|MCF2L_ENST00000421756.1_Silent_p.I473I|MCF2L_ENST00000375597.4_Silent_p.I467I|MCF2L_ENST00000434480.2_Silent_p.I475I|MCF2L_ENST00000535094.2_Silent_p.I469I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	499					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCAGGAAATCGAGAAGTTTT	0.522													16	34					0	0	0	0	T	113730378	C	T	113730378	2	4	418	1	0	0	0	0	0	0	0	1	9448	874	31	1		1	MCF2L	13	113730378	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	25400659	113730378	1439500	72	82968											
DHRS2	10202	broad.mit.edu	37	chr14	24114424	24114424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgccagctacgtcaacgggGagaacattgcggtggcaggc	10	6	15	10	3	1	1	1	0	0	1	1	2	1	1	1	5	6	2	1	5	3	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:24114424G>A	ENST00000250383.6	+	9	1281	c.805G>A	c.(805-807)Gag>Aag	p.E269K	DHRS2_ENST00000344777.7_Silent_p.G272G	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	247					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CGTCAACGGGGAGAACATTGC	0.607													46	68					0	0	0	0	A	24114424	G	A	24114424	3	1	418	1	0	0	0	0	1	0	0	0	4527	1175	41	2	846	2	DHRS2	14	24114424	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08		24114424	83235116	73	82969											
AKAP6	9472	broad.mit.edu	37	chr14	33291093	33291093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggaggagacatgagccaGaattcaggcagtgagagtgg	13	6	16	6	0	1	4	1	2	0	3	1	7	1	5	1	4	1	1	1	4	1	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:33291093G>C	ENST00000280979.4	+	13	4244	c.4074G>C	c.(4072-4074)caG>caC	p.Q1358H	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1358					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATGAGCCAGAATTCAGGCA	0.458													14	46					0	0	0	0	C	33291093	G	C	33291093	3	2	418	1	0	0	0	0	1	0	0	0	455	933	33	2	4120	2	AKAP6	14	33291093	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	9176669	33291093	74058447	74	82970											
MDGA2	161357	broad.mit.edu	37	chr14	47601019	47601019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatagtcctgaggtcgaaGattctttagttttaagatct	11	15	9	6	1	2	3	0	1	2	2	4	4	3	3	1	1	1	2	1	1	4	6			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:47601019G>T	ENST00000439988.2	-	5	615	c.616C>A	c.(616-618)Ctt>Att	p.L206I	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000399232.2_Missense_Mutation_p.L275I|MDGA2_ENST00000426342.1_5'UTR			Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	206	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGAGGTCGAAGATTCTTTAGT	0.338													13	19					1.61879e-10	1.70273e-10	1	0	T	47601019	G	T	47601019	3	4	418	1	0	0	0	0	1	0	0	0	9476	942	33	2	2306	2	MDGA2	14	47601019	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	14309926	47601019	59748521	75	82971											
ENTPD5	957	broad.mit.edu	37	chr14	74440678	74440678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaaagtgtgcccatcaGtccctgaaagaatccagggc	11	7	11	12	1	1	2	1	1	0	1	4	3	4	3	4	2	1	0	4	2	3	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:74440678G>C	ENST00000334696.6	-	12	1107	c.788C>G	c.(787-789)aCt>aGt	p.T263S	ENTPD5_ENST00000557325.1_Missense_Mutation_p.T263S	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	263					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTGCCCATCAGTCCCTGAAAG	0.512													31	60					0	0	0	0	C	74440678	G	C	74440678	3	2	418	1	0	0	0	0	1	0	0	0	5180	1029	36	4	518	4	ENTPD5	14	74440678	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	26839659	74440678	32908862	76	82972											
RYR3	6263	broad.mit.edu	37	chr15	33927847	33927847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaggtcagcatagacAagatccgatttttccgggta	12	10	12	7	2	1	3	1	0	0	3	3	5	3	3	2	3	1	2	2	3	4	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:33927847A>G	ENST00000389232.4	+	26	3278	c.3208A>G	c.(3208-3210)Aag>Gag	p.K1070E	RYR3_ENST00000415757.3_Missense_Mutation_p.K1070E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1070	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCATAGACAAGATCCGATT	0.473													9	19					0	0	0	0	G	33927847	A	G	33927847	3	3	418	1	0	0	0	0	1	0	0	0	13855	131	5	5	3310	5	RYR3	15	33927847	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08		33927847	68603545	77	82973											
UNC13C	440279	broad.mit.edu	37	chr15	54527261	54527261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatggtattgacagcatGccggatcttcgcagaaaaaa	13	11	9	8	2	1	2	0	1	1	1	2	3	1	3	1	2	2	3	1	2	5	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:54527261G>A	ENST00000545554.1	+	4	3105	c.3105G>A	c.(3103-3105)atG>atA	p.M1035I	UNC13C_ENST00000260323.11_Missense_Mutation_p.M1035I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1035I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1035					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGACAGCATGCCGGATCTTC	0.373													10	27					0	0	0	0	A	54527261	G	A	54527261	3	1	418	1	0	0	0	0	1	0	0	0	17082	1319	46	4	3119	4	UNC13C	15	54527261	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	20599414	54527261	48004131	78	82974											
CSPG4	1464	broad.mit.edu	37	chr15	75974679	75974679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccctgtgctgtcctgCtgggcgtggaacagccggcc	3	8	14	16	2	0	0	0	0	0	0	2	1	2	1	6	3	4	2	6	3	1	0	rs145039359		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:75974679C>T	ENST00000308508.5	-	8	4997	c.4905G>A	c.(4903-4905)caG>caA	p.Q1635Q		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1635	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGTCCTGCTGGGCGTGGA	0.677													27	54					0	0	0	0	T	75974679	C	T	75974679	2	4	418	1	0	0	0	0	0	0	0	1	3992	796	28	4		4	CSPG4	15	75974679	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	21447418	75974679	26556713	79	82975											
KIAA0556	23247	broad.mit.edu	37	chr16	27761517	27761517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcagaatttggaactacaAtaaatctcggatacattcct	15	12	6	8	1	2	1	1	0	1	1	4	4	3	3	1	2	3	0	1	2	7	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr16:27761517A>G	ENST00000261588.4	+	16	3255	c.3236A>G	c.(3235-3237)aAt>aGt	p.N1079S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1079										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAACTACAATAAATCTCGG	0.527													28	48					0	0	0	0	G	27761517	A	G	27761517	3	3	418	1	0	0	0	0	1	0	0	0	8234	101	4	5	3298	5	KIAA0556	16	27761517	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08		27761517	62593236	80	82976											
CNTROB	116840	broad.mit.edu	37	chr17	7847852	7847852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgggaaccagcagctggagGagcagcgggtggagctggtg	8	5	21	7	1	0	0	0	0	0	0	0	4	0	4	1	6	6	4	1	6	1	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:7847852G>A	ENST00000380262.3	+	12	2555	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000563694.1_Missense_Mutation_p.E544K|CNTROB_ENST00000565740.1_Missense_Mutation_p.E544K	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	544	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGCTGGAGGAGCAGCGGGT	0.622													24	34					0	0	0	0	A	7847852	G	A	7847852	3	1	418	1	0	0	0	0	1	0	0	0	3681	1175	41	2	1676	2	CNTROB	17	7847852	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08		7847852	73347358	81	82977											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215869	8215869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaggatgcagatgcccCggagccaggtctccaagcga	9	5	14	13	2	2	1	1	0	1	1	3	4	2	3	4	4	4	2	4	4	1	0	rs147736312		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8215869C>A	ENST00000361926.3	+	2	622	c.512C>A	c.(511-513)cCg>cAg	p.P171Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P171Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	171					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCAGATGCCCCGGAGCCAGGT	0.642													20	44					6.21321e-17	6.68391e-17	1	0	A	8215869	C	A	8215869	3	1	418	1	0	0	0	0	1	0	0	0	900	652	23	3	514	3	ARHGEF15	17	8215869	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	368017	8215869	72979341	82	82978											
MYH10	4628	broad.mit.edu	37	chr17	8411915	8411915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcttattcctgattttGgccaagtttttcgccttttc	4	21	6	10	1	1	1	0	1	1	0	4	1	2	1	3	1	1	2	3	1	2	9			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8411915G>A	ENST00000360416.3	-	26	3309	c.3171C>T	c.(3169-3171)gcC>gcT	p.A1057A	MYH10_ENST00000396239.1_Silent_p.A1047A|MYH10_ENST00000379980.4_Silent_p.A1042A|MYH10_ENST00000269243.4_Silent_p.A1026A	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1026					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTGATTTTGGCCAAGTTTT	0.413													69	124					0	0	0	0	A	8411915	G	A	8411915	2	1	418	1	0	0	0	0	0	0	0	1	10100	1335	47	4		4	MYH10	17	8411915	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	196046	8411915	72783295	83	82979											
PIK3R6	146850	broad.mit.edu	37	chr17	8730512	8730512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccagcttgtggatggCggggcacagcgtgttgacgt	6	9	16	10	3	1	1	1	1	0	0	1	2	1	2	1	4	3	3	1	4	0	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8730512C>T	ENST00000311434.9	-	13	1731	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	498					platelet activation	cytosol											TTGTGGATGGCGGGGCACAGC	0.662													6	9					0	0	0	0	T	8730512	C	T	8730512	3	4	418	1	0	0	0	0	1	0	0	0	11995	768	27	1	803	1	PIK3R6	17	8730512	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	318597	8730512	72464698	84	82980											
PLEKHM1	9842	broad.mit.edu	37	chr17	43545614	43545614	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccagcttcagaccagcTccgtcatgagcctgggcctt	8	9	9	15	1	2	2	2	1	0	1	3	2	3	2	5	1	4	2	5	1	1	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:43545614T>A	ENST00000430334.3	-	5	1402	c.1269A>T	c.(1267-1269)ggA>ggT	p.G423G	PLEKHM1_ENST00000421073.2_Silent_p.G334G	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	423					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCAGACCAGCTCCGTCATGAG	0.587													4	18					0	0	0	0	A	43545614	T	A	43545614	2	1	418	1	0	0	0	0	0	0	0	1	12152	1538	54	5		5	PLEKHM1	17	43545614	Silent	SNP	T	TCGA-HD-7832-01A-11D-2129-08	34815102	43545614	37649596	85	82981											
OTOP2	92736	broad.mit.edu	37	chr17	72923778	72923778	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtggtctcatgttcacActcaccaccaacctggccat	9	10	8	14	0	3	0	3	0	1	0	4	0	3	0	4	3	1	1	4	3	1	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:72923778A>T	ENST00000331427.4	+	5	620	c.528A>T	c.(526-528)acA>acT	p.T176T	OTOP2_ENST00000580223.1_Silent_p.T176T	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	176						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCATGTTCACACTCACCACCA	0.582													21	45					0	0	0	0	T	72923778	A	T	72923778	2	4	418	1	0	0	0	0	0	0	0	1	11377	146	6	5		5	OTOP2	17	72923778	Silent	SNP	A	TCGA-HD-7832-01A-11D-2129-08	29378164	72923778	8271432	86	82982											
NPLOC4	55666	broad.mit.edu	37	chr17	79532588	79532588	+	Frame_Shift_Del	DEL	C	C	-																															cttccatgtctgggcgagctCctcatttctggtccgcacgg																										TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:79532588delC	ENST00000374747.5	-	16	1741	c.1612delG	c.(1612-1614)agfs	p.E538fs	NPLOC4_ENST00000539314.1_Frame_Shift_Del_p.E377fs|NPLOC4_ENST00000331134.6_Frame_Shift_Del_p.E538fs|NPLOC4_ENST00000573876.1_Frame_Shift_Del_p.R2fs|NPLOC4_ENST00000572760.1_Frame_Shift_Del_p.R2fs			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	538					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGGCGAGCTCCTCATTTCTG	0.622													2	4	---	---	---	---					-	79532588	C	-	79532588	7	5	418	1	0	1	0	1	0	0	0	0	10657	864	30	0	222	0	NPLOC4	17	79532588	Frame_Shift_Del	DEL	C	TCGA-HD-7832-01A-11D-2129-08	6608810	79532588	1662622	87	82983											
CTAGE1	64693	broad.mit.edu	37	chr18	19995819	19995819	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagggccagttgcttcattTtcagcggggagagatgaatc	9	10	13	9	1	2	2	2	1	0	1	3	4	2	3	2	3	2	2	2	3	1	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:19995819T>C	ENST00000391403.2	-	1	2059	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	652						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGCTTCATTTTCAGCGGGGA	0.438													70	164					0	0	0	0	C	19995819	T	C	19995819	2	2	418	1	0	0	0	0	0	0	0	1	4024	1838	64	5		5	CTAGE1	18	19995819	Silent	SNP	T	TCGA-HD-7832-01A-11D-2129-08		19995819	58081429	88	82984											
DSG1	1828	broad.mit.edu	37	chr18	28919849	28919849	+	Frame_Shift_Del	DEL	T	T	-																															acttcttccactaactatgaTaccagcacaacttctactga																										TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:28919849delT	ENST00000257192.4	+	11	1760	c.1548delT	c.(1546-1548)gafs	p.D516fs		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	516					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTAACTATGATACCAGCACAA	0.398													48	107	---	---	---	---					-	28919849	T	-	28919849	7	5	418	1	0	1	0	1	0	0	0	0	4812	1403	49	0	1590	0	DSG1	18	28919849	Frame_Shift_Del	DEL	T	TCGA-HD-7832-01A-11D-2129-08	8924030	28919849	49157399	89	82985											
MOCOS	55034	broad.mit.edu	37	chr18	33780032	33780032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttgcaccctgtgagcaCgcctgggaagtggtttgtgc	5	10	16	10	2	0	1	0	1	0	0	0	2	0	2	2	3	3	4	2	3	1	2	rs141623345		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:33780032C>T	ENST00000261326.5	+	4	707	c.686C>T	c.(685-687)aCg>aTg	p.T229M		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	229					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CCTGTGAGCACGCCTGGGAAG	0.567													24	60					0	0	0	0	T	33780032	C	T	33780032	3	4	418	1	0	0	0	0	1	0	0	0	9759	536	19	1	700	1	MOCOS	18	33780032	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	4860183	33780032	44297216	90	82986											
PEX11G	92960	broad.mit.edu	37	chr19	7543261	7543261	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcagcatccacagggAcctgcagcaccagagcccga	11	5	10	15	1	1	1	1	0	0	1	2	3	2	2	4	1	5	4	4	1	0	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:7543261A>G	ENST00000593942.1	-	6	722	c.218_splice	c.e6-1	p.S74_splice	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000221480.1_Splice_Site_p.S144_splice			Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	144						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						ATCCACAGGGACCTGCAGCAC	0.672													8	6					0	0	0	0	G	7543261	A	G	7543261	5	3	418	1	0	0	0	0	0	0	1	0	11811	289	10	5	303	5	PEX11G	19	7543261	Splice_Site	SNP	A	TCGA-HD-7832-01A-11D-2129-08		7543261	51585722	91	82987											
NOTCH3	4854	broad.mit.edu	37	chr19	15302902	15302902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagccagctggacactggCagcggaaggagccaggtgtg	9	6	17	9	1	0	0	0	0	0	0	0	3	0	3	2	5	4	3	2	5	2	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:15302902C>G	ENST00000263388.2	-	4	623	c.548G>C	c.(547-549)tGc>tCc	p.C183S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	183	EGF-like 4; calcium-binding (Potential).		C -> F (in CADASIL).|C -> R (in CADASIL).|C -> S (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGACACTGGCAGCGGAAGGA	0.672													12	32					0	0	0	0	G	15302902	C	G	15302902	3	3	418	1	0	0	0	0	1	0	0	0	10620	710	25	4	6537	4	NOTCH3	19	15302902	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	7759641	15302902	43826081	92	82988											
TMEM59L	25789	broad.mit.edu	37	chr19	18731326	18731326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccaccctacaagctgaagCtggacctgaccaagctgtag	12	7	9	13	0	0	2	0	2	0	0	0	3	0	3	4	1	5	4	4	1	6	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:18731326C>T	ENST00000600490.1	+	9	1194	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	TMEM59L_ENST00000262817.3_Silent_p.L337L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	337						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CAAGCTGAAGCTGGACCTGAC	0.657													22	39					0	0	0	0	T	18731326	C	T	18731326	2	4	418	1	0	0	0	0	0	0	0	1	16280	796	28	4		4	TMEM59L	19	18731326	Silent	SNP	C	TCGA-HD-7832-01A-11D-2129-08	3428424	18731326	40397657	93	82989											
ZNF302	55900	broad.mit.edu	37	chr19	35175210	35175210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacaaagaaggatatttatGatgaagattcaccccaacca	18	8	6	9	0	1	4	1	2	0	2	1	5	1	5	3	1	2	0	3	1	7	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:35175210G>A	ENST00000505242.1	+	5	762	c.268G>A	c.(268-270)Gat>Aat	p.D90N	ZNF302_ENST00000457781.2_Missense_Mutation_p.D90N|ZNF302_ENST00000446502.2_Missense_Mutation_p.D134N|ZNF302_ENST00000423823.2_Missense_Mutation_p.D90N|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000507959.1_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATATTTATGATGAAGATTC	0.294													20	32					0	0	0	0	A	35175210	G	A	35175210	3	1	418	1	0	0	0	0	1	0	0	0	17927	1290	45	2	282	2	ZNF302	19	35175210	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	16443884	35175210	23953773	94	82990											
CAPNS1	826	broad.mit.edu	37	chr19	36633613	36633613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgaggaggtccggcagttCcggagactctttgcccagct	7	9	14	11	2	1	2	0	1	1	1	3	4	3	3	3	4	2	3	3	4	0	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:36633613C>A	ENST00000246533.3	+	4	901	c.303C>A	c.(301-303)ttC>ttA	p.F101L	CAPNS1_ENST00000588780.1_Missense_Mutation_p.F101L|CAPNS1_ENST00000588815.1_Missense_Mutation_p.F101L|CAPNS1_ENST00000587718.1_Missense_Mutation_p.F101L|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	101	EF-hand 1; atypical.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGGCAGTTCCGGAGACTCT	0.612													45	94					2.77807e-22	3.03451e-22	1	0	A	36633613	C	A	36633613	3	1	418	1	0	0	0	0	1	0	0	0	2658	854	30	2	313	2	CAPNS1	19	36633613	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	1458403	36633613	22495370	95	82991											
FBXO46	23403	broad.mit.edu	37	chr19	46215924	46215924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgcccccactgggcaggCcgctgtctggtgcacggggc	3	5	15	18	3	1	0	0	0	1	0	1	0	1	0	5	5	1	3	5	5	0	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:46215924C>T	ENST00000317683.3	-	2	963	c.830G>A	c.(829-831)gGc>gAc	p.G277D		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	277							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		ACTGGGCAGGCCGCTGTCTGG	0.697													13	14					0	0	0	0	T	46215924	C	T	46215924	3	4	418	1	0	0	0	0	1	0	0	0	5800	739	26	4	985	4	FBXO46	19	46215924	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	9582311	46215924	12913059	96	82992											
ZNF665	79788	broad.mit.edu	37	chr19	53668506	53668506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgctaagtgtgaatactGagtgaaaaccttgacgcatt	13	13	9	6	1	0	4	0	4	0	0	0	4	0	4	1	0	3	2	1	0	5	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:53668506G>C	ENST00000600412.1	-	2	1157	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	ZNF665_ENST00000396424.3_Missense_Mutation_p.Q413E			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q413*(1)|p.Q348*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGTGAATACTGAGTGAAAACC	0.408													17	30					0	0	0	0	C	53668506	G	C	53668506	3	2	418	1	0	0	0	0	1	0	0	0	18168	1299	45	2	803	2	ZNF665	19	53668506	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	7452582	53668506	5460477	97	82993											
ZNF761	388561	broad.mit.edu	37	chr19	53959873	53959873	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactttagtcagaagtcatcCcttatatgccaccatagact	13	12	5	11	0	2	2	2	0	0	2	3	2	3	2	3	0	2	0	3	0	6	5			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:53959873C>T	ENST00000454407.1	+	0	2565							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAAGTCATCCCTTATATGCC	0.388													27	65					0	0	0	0	T	53959873	C	T	53959873	1	4	418	0	1	0	0	0	0	0	0	0	18230	610	22	4		4	ZNF761	19	53959873	RNA	SNP	C	TCGA-HD-7832-01A-11D-2129-08	291367	53959873	5169110	98	82994											
ATRN	8455	broad.mit.edu	37	chr20	3565467	3565467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttctatccacagcccctgCtcaattccagcatgtgtcta	9	13	5	14	0	3	0	1	0	2	0	5	0	5	0	4	0	3	2	4	0	3	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:3565467C>T	ENST00000262919.5	+	18	3192	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	ATRN_ENST00000446916.2_Missense_Mutation_p.L1042F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1042	PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACAGCCCCTGCTCAATTCCAG	0.458													59	101					0	0	0	0	T	3565467	C	T	3565467	3	4	418	1	0	0	0	0	1	0	0	0	1210	797	28	4	3194	4	ATRN	20	3565467	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08		3565467	59460053	99	82995											
ESF1	51575	broad.mit.edu	37	chr20	13763275	13763275	+	Frame_Shift_Del	DEL	T	T	-																															ctgtagtatgttgaacaatgTtttttttctctttcttattt																										TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:13763275delT	ENST00000202816.1	-	2	619	c.512delA	c.(511-513)acfs	p.N171fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.N171fs*18(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGAACAATGTTTTTTTTCTC	0.318													9	25	---	---	---	---					-	13763275	T	-	13763275	7	5	418	1	0	1	0	1	0	0	0	0	5289	1725	60	0	2095	0	ESF1	20	13763275	Frame_Shift_Del	DEL	T	TCGA-HD-7832-01A-11D-2129-08	10197808	13763275	49262245	100	82996											
SEL1L2	80343	broad.mit.edu	37	chr20	13830958	13830958	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacaatcttctggccaagTgaatgtcctagaaggagaag	13	9	11	8	1	2	3	0	1	2	2	3	4	3	3	2	2	1	1	2	2	7	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:13830958T>G	ENST00000284951.5	-	19	1900	c.1826A>C	c.(1825-1827)cAc>cCc	p.H609P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.H496P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	609						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTGGCCAAGTGAATGTCCTA	0.438													17	49					0	0	0	0	G	13830958	T	G	13830958	3	3	418	1	0	0	0	0	1	0	0	0	14098	1696	59	5	248	5	SEL1L2	20	13830958	Missense_Mutation	SNP	T	TCGA-HD-7832-01A-11D-2129-08	67683	13830958	49194562	101	82997											
SSTR4	6754	broad.mit.edu	37	chr20	23017025	23017025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcccttatccttagctatgCcaacagctgcgccaacccca	9	9	6	17	1	0	0	0	0	0	0	2	0	2	0	6	0	6	2	6	0	5	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:23017025C>T	ENST00000255008.3	+	1	969	c.905C>T	c.(904-906)gCc>gTc	p.A302V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	302					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTAGCTATGCCAACAGCTGC	0.577													33	111					0	0	0	0	T	23017025	C	T	23017025	3	4	418	1	0	0	0	0	1	0	0	0	15290	739	26	4	907	4	SSTR4	20	23017025	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	9186067	23017025	40008495	102	82998											
ASXL1	171023	broad.mit.edu	37	chr20	31021439	31021439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacccgacctggagggtcccGaattcccagttgagtctgtg	7	9	12	13	2	1	1	0	1	1	0	3	4	3	2	4	2	0	1	4	2	1	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:31021439G>A	ENST00000375687.4	+	12	1862	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E475K	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAGGGTCCCGAATTCCCAGT	0.597			"F, N, Mis"		"MDS, CMML"								15	161					0	0	0	0	A	31021439	G	A	31021439	3	1	418	1	0	0	0	0	1	0	0	0	1070	1059	37	1	1490	1	ASXL1	20	31021439	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	8004414	31021439	32004081	103	82999											
SYCP2	10388	broad.mit.edu	37	chr20	58443591	58443591	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttagattatcttctatatAtattcttttgcgactaagat	12	19	4	6	1	3	2	0	0	3	2	3	3	3	2	0	0	1	0	0	0	7	11			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:58443591A>T	ENST00000357552.3	-	38	4090	c.3865T>A	c.(3865-3867)Tat>Aat	p.Y1289N	SYCP2_ENST00000371001.2_Missense_Mutation_p.Y1289N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1289					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTTCTATATATATTCTTTTG	0.333													26	33					0	0	0	0	T	58443591	A	T	58443591	3	4	418	1	0	0	0	0	1	0	0	0	15523	449	16	5	759	5	SYCP2	20	58443591	Missense_Mutation	SNP	A	TCGA-HD-7832-01A-11D-2129-08	27422152	58443591	4581929	104	83000											
TCEA2	6919	broad.mit.edu	37	chr20	62701952	62701952	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacagacctgttcacctgCggcaagtgcaggaaaaagaa	15	5	11	10	1	1	3	1	0	0	3	1	4	1	4	2	2	2	3	2	2	4	1	rs141114667		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:62701952C>A	ENST00000361317.2	+	9	1144	c.702C>A	c.(700-702)tgC>tgA	p.C234*	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Nonsense_Mutation_p.C261*|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	261	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCACCTGCGGCAAGTGCA	0.632													10	11					0.000442599	0.000452152	1	0	A	62701952	C	A	62701952	4	1	418	1	0	0	0	0	0	1	0	0	15762	776	27	3	813	3	TCEA2	20	62701952	Nonsense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	4258361	62701952	323568	105	83001											
BAGE2	85319	broad.mit.edu	37	chr21	11039141	11039141	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcaggacataatgaaGtgctttcctcatgtggggac	9	12	11	9	0	2	1	2	1	0	0	4	3	4	3	2	3	1	2	2	3	2	3	rs71292113		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr21:11039141G>T	ENST00000470054.1	-	0	1062									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)		ACATAATGAAGTGCTTTCCTC	0.398													15	240					2.32078e-09	2.42317e-09	1	0	T	11039141	G	T	11039141	1	4	418	0	1	0	0	0	0	0	0	0	1296	1044	36	4		4	BAGE2	21	11039141	RNA	SNP	G	TCGA-HD-7832-01A-11D-2129-08		11039141	37090754	106	83002											
ZNF70	7621	broad.mit.edu	37	chr22	24086332	24086332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatttgtagggcttctcGccagtgtgggtcttgcggtg	3	14	16	8	2	2	0	0	0	2	0	3	0	2	0	1	4	1	3	1	4	1	4	rs141862105		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:24086332G>A	ENST00000341976.3	-	2	1456	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGGCTTCTCGCCAGTGTGGG	0.567													19	41					0	0	0	0	A	24086332	G	A	24086332	2	1	418	1	0	0	0	0	0	0	0	1	18198	1074	38	1		1	ZNF70	22	24086332	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08		24086332	27218234	107	83003											
LARGE	9215	broad.mit.edu	37	chr22	33670599	33670599	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggcgttgggcagcacaatGaactcatactcctggaagaa	13	8	11	9	1	1	2	1	1	0	1	2	3	2	3	1	3	3	3	1	3	6	3			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:33670599G>A	ENST00000354992.2	-	16	2656	c.2085C>T	c.(2083-2085)ttC>ttT	p.F695F	LARGE_ENST00000337431.2_Silent_p.F643F|LARGE_ENST00000437602.2_Silent_p.F646F|LARGE_ENST00000452586.2_Silent_p.F494F|LARGE_ENST00000397394.2_Silent_p.F695F|LARGE_ENST00000402320.1_Silent_p.F643F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	695					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCAGCACAATGAACTCATACT	0.507											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	26					0	0	0	0	A	33670599	G	A	33670599	2	1	418	1	0	0	0	0	0	0	0	1	8680	1281	45	2		2	LARGE	22	33670599	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	9584267	33670599	17633967	108	83004											
CBX6	23466	broad.mit.edu	37	chr22	39262468	39262468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctgtgacctcaggcgGtgcccgcttgctggtggctg	4	9	16	12	2	1	1	1	1	0	0	1	1	1	1	2	4	4	5	2	4	0	1			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:39262468G>T	ENST00000407418.3	-	5	1108	c.985C>A	c.(985-987)Ccg>Acg	p.P329T	CBX6_ENST00000216083.6_Missense_Mutation_p.P311T			O95503	CBX6_HUMAN	chromobox homolog 6	329					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					ACCTCAGGCGGTGCCCGCTTG	0.756													7	9					2.7689e-08	2.86995e-08	1	0	T	39262468	G	T	39262468	3	4	418	1	0	0	0	0	1	0	0	0	2747	1261	44	4	257	4	CBX6	22	39262468	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	5591869	39262468	12042098	109	83005											
CACNA1I	8911	broad.mit.edu	37	chr22	40061518	40061518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgtcatcagccgggcGccgggcctgaagctggtggt	5	8	17	11	3	3	1	3	1	0	0	3	1	3	1	3	4	2	1	3	4	1	0			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:40061518G>A	ENST00000336649.4	+	25	3885	c.3885G>A	c.(3883-3885)gcG>gcA	p.A1295A	CACNA1I_ENST00000407673.1_Silent_p.A1254A|CACNA1I_ENST00000404898.1_Silent_p.A1254A|CACNA1I_ENST00000402142.3_Silent_p.A1289A|CACNA1I_ENST00000401624.1_Silent_p.A1289A|CACNA1I_ENST00000400164.3_Silent_p.A1254A			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1289					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCAGCCGGGCGCCGGGCCTGA	0.617													22	32					0	0	0	0	A	40061518	G	A	40061518	2	1	418	1	0	0	0	0	0	0	0	1	2571	1074	38	1		1	CACNA1I	22	40061518	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08	799050	40061518	11243048	110	83006											
FBLN1	2192	broad.mit.edu	37	chr22	45937151	45937151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtgccccgtgccctatcgGgcatacatgcatcaacacag	10	7	9	15	2	1	0	1	0	0	0	2	0	1	0	3	1	5	2	3	1	3	2			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:45937151G>A	ENST00000348697.2	+	9	1112	c.965G>A	c.(964-966)gGg>gAg	p.G322E	FBLN1_ENST00000442170.2_Missense_Mutation_p.G322E|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.G322E|FBLN1_ENST00000402984.3_Missense_Mutation_p.G360E|FBLN1_ENST00000340923.5_Missense_Mutation_p.G322E|FBLN1_ENST00000327858.6_Missense_Mutation_p.G322E			P23142	FBLN1_HUMAN	fibulin 1	322	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCCTATCGGGCATACATGC	0.542													22	50					0	0	0	0	A	45937151	G	A	45937151	3	1	418	1	0	0	0	0	1	0	0	0	5743	1232	43	4	999	4	FBLN1	22	45937151	Missense_Mutation	SNP	G	TCGA-HD-7832-01A-11D-2129-08	5875633	45937151	5367415	111	83007											
MAGEB4	4115	broad.mit.edu	37	chrX	30260591	30260591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattctctaaccaggaagacGaagatgttagtgcagttcct	12	11	10	8	1	1	2	0	0	1	2	3	5	2	3	2	1	2	3	2	1	4	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chrX:30260591G>A	ENST00000378982.2	+	1	535	c.339G>A	c.(337-339)acG>acA	p.T113T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	113	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGGAAGACGAAGATGTTAG	0.443													6	2					0	0	0	0	A	30260591	G	A	30260591	2	1	418	1	0	0	0	0	0	0	0	1	9247	1045	37	1		1	MAGEB4	23	30260591	Silent	SNP	G	TCGA-HD-7832-01A-11D-2129-08		30260591	125009969	112	83008											
HUWE1	10075	broad.mit.edu	37	chrX	53571556	53571556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggctttcttgttagccCggcgcgtgtcgtcccggagc	2	12	14	13	5	1	0	0	0	1	0	3	1	2	1	2	3	2	3	2	3	1	4			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chrX:53571556C>T	ENST00000342160.3	-	71	11673	c.11216G>A	c.(11215-11217)cGg>cAg	p.R3739Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3739Q|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3739					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTGTTAGCCCGGCGCGTGTC	0.537													16	5					0	0	0	0	T	53571556	C	T	53571556	3	4	418	1	0	0	0	0	1	0	0	0	7514	652	23	1	1960	1	HUWE1	23	53571556	Missense_Mutation	SNP	C	TCGA-HD-7832-01A-11D-2129-08	23310965	53571556	101699004	113	83009											
CAMTA1	23261	broad.mit.edu	37	chr1	7723421	7723421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatctccgcaggagctggcGgcagcgtgcatcacaagtgt	8	7	14	12	4	2	0	1	0	1	0	3	2	2	1	1	3	3	4	1	3	1	0			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:7723421G>A	ENST00000303635.7	+	9	1021	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G272S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGAGCTGGCGGCAGCGTGCA	0.607			T	WWTR1	epitheliod hemangioendothelioma								33	139					0	0	0	0	A	7723421	G	A	7723421	3	1	419	1	0	0	0	0	1	0	0	0	2638	1116	39	1	848	1	CAMTA1	1	7723421	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		7723421	241527200	1	83010											
CSMD2	114784	broad.mit.edu	37	chr1	34123604	34123604	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgatcttcacacagctGatctctgcacttccctgcag	7	13	6	15	1	4	1	1	1	3	0	7	2	5	1	1	0	3	3	1	0	0	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:34123604G>T	ENST00000373381.4	-	27	4565	c.4389C>A	c.(4387-4389)atC>atA	p.I1463I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.I336I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1423	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCACACAGCTGATCTCTGCAC	0.597													7	67					0.000157383	0.000171894	1	0	T	34123604	G	T	34123604	2	4	419	1	0	0	0	0	0	0	0	1	3977	1280	45	2		2	CSMD2	1	34123604	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	26400183	34123604	215127017	2	83011											
CSMD2	114784	broad.mit.edu	37	chr1	34192216	34192216	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacagctcaaggcatcCttgtagaagccaggccagcc	11	5	11	14	0	1	1	1	0	0	1	2	1	2	1	4	3	3	4	4	3	3	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:34192216C>T	ENST00000373381.4	-	16	2615	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	773	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCAAGGCATCCTTGTAGAAGC	0.617													8	32					0	0	0	0	T	34192216	C	T	34192216	2	4	419	1	0	0	0	0	0	0	0	1	3977	680	24	4		4	CSMD2	1	34192216	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	68612	34192216	215058405	3	83012											
THRAP3	9967	broad.mit.edu	37	chr1	36769445	36769445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtgggtgagccggggcCggggccgaggagcctttcct	6	6	18	11	3	0	1	0	1	0	0	1	3	1	2	5	6	2	0	5	6	1	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:36769445C>G	ENST00000354618.5	+	12	2919	c.2695C>G	c.(2695-2697)Cgg>Ggg	p.R899G	THRAP3_ENST00000469141.2_Missense_Mutation_p.R899G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	899					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCCGGGGCCGGGGCCGAGG	0.597			T	USP6	aneurysmal bone cysts								32	85					0	0	0	0	G	36769445	C	G	36769445	3	3	419	1	0	0	0	0	1	0	0	0	15968	643	23	3	2733	3	THRAP3	1	36769445	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	2577229	36769445	212481176	4	83013											
TOE1	114034	broad.mit.edu	37	chr1	45808853	45808853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagaggacaagcggcgaCggcgacgacgtagggaaaaa	14	1	17	9	7	0	1	0	0	0	1	0	6	0	3	0	5	1	2	0	5	4	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:45808853C>T	ENST00000372090.5	+	8	1595	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	TOE1_ENST00000539779.1_Missense_Mutation_p.R258W|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	338						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CAAGCGGCGACGGCGACGACG	0.567													32	128					0	0	0	0	T	45808853	C	T	45808853	3	4	419	1	0	0	0	0	1	0	0	0	16443	527	19	1	1042	1	TOE1	1	45808853	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	9039408	45808853	203441768	5	83014											
COL24A1	255631	broad.mit.edu	37	chr1	86430720	86430720	+	Missense_Mutation	SNP	G	G	A																															cttctggtcctggttcacctGcataccccttttgacctggt																										TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:86430720G>A	ENST00000370571.2	-	23	2855	c.2489C>T	c.(2488-2490)gCa>gTa	p.A830V	COL24A1_ENST00000436319.1_Missense_Mutation_p.A830V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	830	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).	cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGTTCACCTGCATACCCCTT	0.308													7	79					0	0	0	0	A	86430720	G	A	86430720	3	1	419	1	0	0	0	0	1	0	0	0	3713	1319	46	4	2807	4	COL24A1	1	86430720	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	40621867	86430720	162819901	6	83015	1051	2									
COL24A1	255631	broad.mit.edu	37	chr1	86430721	86430721	+	Missense_Mutation	SNP	C	C	T																															ttctggtcctggttcacctgCataccccttttgacctggtt																										TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:86430721C>T	ENST00000370571.2	-	23	2854	c.2488G>A	c.(2488-2490)Gca>Aca	p.A830T	COL24A1_ENST00000436319.1_Missense_Mutation_p.A830T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	830	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).	cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTTCACCTGCATACCCCTTT	0.308													7	79					0	0	0	0	T	86430721	C	T	86430721	3	4	419	1	0	0	0	0	1	0	0	0	3713	710	25	4	2808	4	COL24A1	1	86430721	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	1	86430721	162819900	7	83016	1051	2									
SH3GLB1	51100	broad.mit.edu	37	chr1	87188339	87188339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagaaactttatagaaggaGattacaaaacaattgctgtg	18	11	8	4	0	0	3	0	0	0	3	0	4	0	3	0	1	4	1	0	1	9	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:87188339G>C	ENST00000370558.4	+	4	784	c.460G>C	c.(460-462)Gat>Cat	p.D154H	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.D154H|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.D54H	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	154	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TATAGAAGGAGATTACAAAAC	0.303													7	64					0	0	0	0	C	87188339	G	C	87188339	3	2	419	1	0	0	0	0	1	0	0	0	14341	942	33	2	474	2	SH3GLB1	1	87188339	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	757618	87188339	162062282	8	83017											
PYHIN1	149628	broad.mit.edu	37	chr1	158906926	158906926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaagaaataccaacactgGgagaccttgctgaaactctt	15	9	7	10	0	2	3	1	1	1	2	2	4	2	3	2	1	4	1	2	1	5	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:158906926G>A	ENST00000368140.1	+	2	471	c.226G>A	c.(226-228)Gga>Aga	p.G76R	PYHIN1_ENST00000368138.3_Missense_Mutation_p.G76R|PYHIN1_ENST00000368135.4_Missense_Mutation_p.G76R|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G76R|PYHIN1_ENST00000392252.3_Missense_Mutation_p.G76R	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	76	DAPIN.				cell cycle	nuclear speck				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)					ACCAACACTGGGAGACCTTGC	0.428													10	43					0	0	0	0	A	158906926	G	A	158906926	3	1	419	1	0	0	0	0	1	0	0	0	12947	1233	43	4	228	4	PYHIN1	1	158906926	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	71718587	158906926	90343695	9	83018											
CFHR4	10877	broad.mit.edu	37	chr1	196881986	196881986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaggatatgcaacagcaGatggaaattcttcaggttca	15	9	9	8	0	3	1	2	0	1	1	3	3	3	3	1	3	4	3	1	3	4	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:196881986G>C	ENST00000367416.2	+	7	1248	c.1111G>C	c.(1111-1113)Gat>Cat	p.D371H	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.D125H|CFHR4_ENST00000251424.4_Missense_Mutation_p.D125H	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGCAACAGCAGATGGAAATTC	0.294													5	102					0	0	0	0	C	196881986	G	C	196881986	3	2	419	1	0	0	0	0	1	0	0	0	3316	942	33	2	383	2	CFHR4	1	196881986	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	37975060	196881986	52368635	10	83019											
ASPM	259266	broad.mit.edu	37	chr1	197070908	197070908	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatatgttctgtacatcctGaaagtagcctgaatgagaac	14	12	8	7	0	1	3	0	3	1	1	2	4	2	3	2	0	3	3	2	0	7	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:197070908G>A	ENST00000367409.4	-	18	7729	c.7473C>T	c.(7471-7473)ttC>ttT	p.F2491F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2491					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTACATCCTGAAAGTAGCCT	0.363													5	89					0	0	0	0	A	197070908	G	A	197070908	2	1	419	1	0	0	0	0	0	0	0	1	1060	1281	45	2		2	ASPM	1	197070908	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	188922	197070908	52179713	11	83020											
CRB1	23418	broad.mit.edu	37	chr1	197391029	197391029	+	Missense_Mutation	SNP	T	T	C																															gaggacgctgcatcaacttgTggctgagttaccagtgtgac																										TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:197391029T>C	ENST00000367397.1	+	2	1072	c.214T>C	c.(214-216)Tgg>Cgg	p.W72R	CRB1_ENST00000544212.1_Missense_Mutation_p.W172R|CRB1_ENST00000367400.3_Missense_Mutation_p.W691R|CRB1_ENST00000538660.1_Missense_Mutation_p.W691R|CRB1_ENST00000535699.1_Missense_Mutation_p.W622R|CRB1_ENST00000367399.2_Missense_Mutation_p.W579R|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	691	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CATCAACTTGTGGCTGAGTTA	0.517													3	42					0	0	0	0	C	197391029	T	C	197391029	3	2	419	1	0	0	0	0	1	0	0	0	3878	1696	59	5	2093	5	CRB1	1	197391029	Missense_Mutation	SNP	T	TCGA-HD-7917-01A-11D-2229-08	320121	197391029	51859592	12	83021	1052	2									
CRB1	23418	broad.mit.edu	37	chr1	197391030	197391030	+	Missense_Mutation	SNP	G	G	T																															aggacgctgcatcaacttgtGgctgagttaccagtgtgact																										TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:197391030G>T	ENST00000367397.1	+	2	1073	c.215G>T	c.(214-216)tGg>tTg	p.W72L	CRB1_ENST00000544212.1_Missense_Mutation_p.W172L|CRB1_ENST00000367400.3_Missense_Mutation_p.W691L|CRB1_ENST00000538660.1_Missense_Mutation_p.W691L|CRB1_ENST00000535699.1_Missense_Mutation_p.W622L|CRB1_ENST00000367399.2_Missense_Mutation_p.W579L|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	691	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCAACTTGTGGCTGAGTTAC	0.517													4	41					0.00024832	0.000267422	1	0	T	197391030	G	T	197391030	3	4	419	1	0	0	0	0	1	0	0	0	3878	1357	47	4	2094	4	CRB1	1	197391030	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	1	197391030	51859591	13	83022	1052	2									
FMN2	56776	broad.mit.edu	37	chr1	240256018	240256018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagacatccagcaggcgatCcgcctgcagcagcagcagca	11	4	11	15	2	1	1	1	0	0	1	3	2	3	1	3	1	6	6	3	1	0	0			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:240256018C>T	ENST00000319653.9	+	1	839	c.609C>T	c.(607-609)atC>atT	p.I203I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	203	Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.I346M(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCAGGCGATCCGCCTgcagc	0.627													4	35					0	0	0	0	T	240256018	C	T	240256018	2	4	419	1	0	0	0	0	0	0	0	1	5995	845	30	2		2	FMN2	1	240256018	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	42864988	240256018	8994603	14	83023											
OR2M2	391194	broad.mit.edu	37	chr1	248344093	248344093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatctgatcactccccaaCgcaggacaagatggtgtctg	11	8	9	13	1	3	2	1	1	2	1	4	3	4	3	2	2	1	1	2	2	2	0	rs149761766		TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:248344093C>T	ENST00000359682.2	+	1	806	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACTCCCCAACGCAGGACAAG	0.502													33	173					0	0	0	0	T	248344093	C	T	248344093	3	4	419	1	0	0	0	0	1	0	0	0	11081	536	19	1	808	1	OR2M2	1	248344093	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	8088075	248344093	906528	15	83024											
NRXN1	9378	broad.mit.edu	37	chr2	51255025	51255025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcctccacctggtcgatGaagagcgtggtgttgcggaa	7	10	15	9	3	0	2	0	1	0	1	2	4	1	3	3	4	2	1	3	4	2	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:51255025G>A	ENST00000404971.1	-	2	1726	c.387C>T	c.(385-387)ttC>ttT	p.F129F	NRXN1_ENST00000405472.3_Silent_p.F129F|NRXN1_ENST00000405581.1_Silent_p.F129F|NRXN1_ENST00000406859.3_Silent_p.F129F|NRXN1_ENST00000401669.2_Silent_p.F129F|NRXN1_ENST00000406316.2_Silent_p.F129F|NRXN1_ENST00000402717.3_Silent_p.F129F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	129	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTGGTCGATGAAGAGCGTGG	0.672													6	34					0	0	0	0	A	51255025	G	A	51255025	2	1	419	1	0	0	0	0	0	0	0	1	10736	1281	45	2		2	NRXN1	2	51255025	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08		51255025	191944348	16	83025											
MAT2A	4144	broad.mit.edu	37	chr2	85770060	85770060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtttctcatccattatctAtctccattttccattatggt	8	19	4	10	0	3	0	1	0	3	0	7	1	5	0	3	1	0	1	3	1	3	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:85770060A>G	ENST00000306434.3	+	8	1111	c.988A>G	c.(988-990)Atc>Gtc	p.I330V	MAT2A_ENST00000409017.1_Missense_Mutation_p.I267V	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	330					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCCATTATCTATCTCCATTTT	0.388													13	46					0	0	0	0	G	85770060	A	G	85770060	3	3	419	1	0	0	0	0	1	0	0	0	9399	449	16	5	1018	5	MAT2A	2	85770060	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	34515035	85770060	157429313	17	83026											
VWA3B	200403	broad.mit.edu	37	chr2	98744737	98744737	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttgtggtgggggatgtTcctgaagaatccaaggagct	9	12	14	6	0	0	2	0	1	0	1	2	4	2	4	2	4	2	2	2	4	4	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:98744737T>A	ENST00000477737.1	+	6	942	c.738T>A	c.(736-738)gtT>gtA	p.V246V	VWA3B_ENST00000451075.2_Silent_p.V96V|VWA3B_ENST00000435344.1_Silent_p.V246V	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	246										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGGGGATGTTCCTGAAGAAT	0.498													48	56					0	0	0	0	A	98744737	T	A	98744737	2	1	419	1	0	0	0	0	0	0	0	1	17337	1770	62	5		5	VWA3B	2	98744737	Silent	SNP	T	TCGA-HD-7917-01A-11D-2229-08	12974677	98744737	144454636	18	83027											
FHL2	2274	broad.mit.edu	37	chr2	105984180	105984180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagctgctgcccttgtaCtccatcttgcgggtacctgt	4	13	10	14	1	1	0	0	0	1	0	2	0	2	0	4	1	7	4	4	1	2	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:105984180C>T	ENST00000336660.5	-	3	293	c.173G>A	c.(172-174)aGt>aAt	p.S58N	FHL2_ENST00000408995.1_Silent_p.E116E|FHL2_ENST00000358129.4_Silent_p.E116E|FHL2_ENST00000393353.3_Silent_p.E116E|FHL2_ENST00000393352.3_Silent_p.E116E|FHL2_ENST00000344213.4_Silent_p.E226E|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000322142.8_Silent_p.E116E|FHL2_ENST00000409177.1_Silent_p.E232E|FHL2_ENST00000409807.1_Silent_p.E116E			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TGCCCTTGTACTCCATCTTGC	0.527													8	77					0	0	0	0	T	105984180	C	T	105984180	3	4	419	1	0	0	0	0	1	0	0	0	5924	564	20	4	503	4	FHL2	2	105984180	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	7239443	105984180	137215193	19	83028											
CLASP1	23332	broad.mit.edu	37	chr2	122227521	122227521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatccacagaatcttcaTcgtcgaaatttttatctgaa	13	14	4	10	2	3	2	1	1	2	1	6	3	4	2	2	0	1	0	2	0	5	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:122227521T>C	ENST00000263710.4	-	9	1117	c.728A>G	c.(727-729)gAt>gGt	p.D243G	CLASP1_ENST00000409078.3_Missense_Mutation_p.D243G|CLASP1_ENST00000397587.3_Missense_Mutation_p.D243G|CLASP1_ENST00000541859.1_Missense_Mutation_p.D12G|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000545861.1_Missense_Mutation_p.D11G|CLASP1_ENST00000455322.2_Missense_Mutation_p.D243G|CLASP1_ENST00000541377.1_Missense_Mutation_p.D243G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	243					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.D243G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AGAATCTTCATCGTCGAAATT	0.368													30	48					0	0	0	0	C	122227521	T	C	122227521	3	2	419	1	0	0	0	0	1	0	0	0	3484	1435	50	5	4068	5	CLASP1	2	122227521	Missense_Mutation	SNP	T	TCGA-HD-7917-01A-11D-2229-08	16243341	122227521	120971852	20	83029											
LCT	3938	broad.mit.edu	37	chr2	136575411	136575411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctcacccctctcccaccctCggcccagcctccttccacgt	4	8	5	24	2	2	0	1	0	1	0	6	0	4	0	8	1	1	1	8	1	0	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:136575411C>G	ENST00000264162.2	-	6	1217	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	403	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCCACCCTCGGCCCAGCCT	0.627													15	65					0	0	0	0	G	136575411	C	G	136575411	3	3	419	1	0	0	0	0	1	0	0	0	8746	893	31	3	4624	3	LCT	2	136575411	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	14347890	136575411	106623962	21	83030											
CSRNP3	80034	broad.mit.edu	37	chr2	166536001	166536001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacccagctgccaacccctCtgtaatcgtttgctgctcct	6	12	6	17	1	1	0	0	0	1	0	3	0	2	0	5	0	6	5	5	0	3	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:166536001C>T	ENST00000314499.7	+	7	1872	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F	CSRNP3_ENST00000342316.4_Missense_Mutation_p.S499F|CSRNP3_ENST00000409420.1_Missense_Mutation_p.S531F	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	499					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCCAACCCCTCTGTAATCGTT	0.522													14	24					0	0	0	0	T	166536001	C	T	166536001	3	4	419	1	0	0	0	0	1	0	0	0	3997	913	32	2	1510	2	CSRNP3	2	166536001	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	29960590	166536001	76663372	22	83031											
XIRP2	129446	broad.mit.edu	37	chr2	168107665	168107665	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtggttccttcagagaaTctgtggacgctcaagaggaa	11	10	12	8	1	3	2	2	0	1	2	4	5	4	4	1	3	0	2	1	3	4	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:168107665T>A	ENST00000409195.1	+	9	9852	c.9763T>A	c.(9763-9765)Tct>Act	p.S3255T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3033T|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3255T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3080					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTCAGAGAATCTGTGGACGC	0.423													7	57					0	0	0	0	A	168107665	T	A	168107665	3	1	419	1	0	0	0	0	1	0	0	0	17526	1435	50	5	9793	5	XIRP2	2	168107665	Missense_Mutation	SNP	T	TCGA-HD-7917-01A-11D-2229-08	1571664	168107665	75091708	23	83032											
HOXD3	3232	broad.mit.edu	37	chr2	177036315	177036315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcacggcatacacgagcgcGcagctggtggaattggaaaa	12	5	14	10	5	0	0	0	0	0	0	0	3	0	2	0	4	3	4	0	4	4	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:177036315G>A	ENST00000468418.3	+	4	2702	c.612G>A	c.(610-612)gcG>gcA	p.A204A	HOXD3_ENST00000410016.1_Silent_p.A204A|HOXD3_ENST00000249440.3_Silent_p.A204A			P31249	HXD3_HUMAN	homeobox D3	204					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACACGAGCGCGCAGCTGGTGG	0.637													24	29					0	0	0	0	A	177036315	G	A	177036315	2	1	419	1	0	0	0	0	0	0	0	1	7373	1074	38	1		1	HOXD3	2	177036315	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	8928650	177036315	66163058	24	83033											
SSFA2	6744	broad.mit.edu	37	chr2	182784165	182784165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcacccttccgctcctccGcactcatggtacgctacctg	5	11	6	19	3	2	0	2	0	0	0	5	0	5	0	5	1	2	4	5	1	2	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:182784165G>A	ENST00000431877.2	+	14	3315	c.3136G>A	c.(3136-3138)Gca>Aca	p.A1046T	SSFA2_ENST00000428267.2_Missense_Mutation_p.A893T|SSFA2_ENST00000409001.1_Missense_Mutation_p.A1046T|SSFA2_ENST00000409136.1_Missense_Mutation_p.A555T|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000320370.7_Missense_Mutation_p.A1046T	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1046						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCGCTCCTCCGCACTCATGGT	0.522													14	92					0	0	0	0	A	182784165	G	A	182784165	3	1	419	1	0	0	0	0	1	0	0	0	15273	1087	38	1	3190	1	SSFA2	2	182784165	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	5747850	182784165	60415208	25	83034											
SLC39A10	57181	broad.mit.edu	37	chr2	196581678	196581678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatagctaatatagcctggAtggtgatcatgggggatggc	11	10	15	5	0	1	1	1	1	0	0	1	4	1	3	1	5	2	1	1	5	5	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:196581678A>G	ENST00000409086.3	+	7	2289	c.2014A>G	c.(2014-2016)Atg>Gtg	p.M672V	SLC39A10_ENST00000541054.1_Missense_Mutation_p.M222V|SLC39A10_ENST00000359634.5_Missense_Mutation_p.M672V	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	672					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TATAGCCTGGATGGTGATCAT	0.458													8	92					0	0	0	0	G	196581678	A	G	196581678	3	3	419	1	0	0	0	0	1	0	0	0	14701	333	12	5	2036	5	SLC39A10	2	196581678	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	13797513	196581678	46617695	26	83035											
DOCK10	55619	broad.mit.edu	37	chr2	225669928	225669928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaattctctttaccgtacGaaatcgttttcataatgtga	13	15	6	7	3	2	2	1	1	1	1	4	3	2	2	1	0	2	2	1	0	6	7			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:225669928G>A	ENST00000409592.3	-	36	4141	c.4028C>T	c.(4027-4029)tCg>tTg	p.S1343L	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1349L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1349							GTP binding	p.S1347L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTACCGTACGAAATCGTTTT	0.363													9	89					0	0	0	0	A	225669928	G	A	225669928	3	1	419	1	0	0	0	0	1	0	0	0	4721	1059	37	1	2598	1	DOCK10	2	225669928	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	29088250	225669928	17529445	27	83036											
WDR6	11180	broad.mit.edu	37	chr3	49052506	49052506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcccatgtgacaggcCtcaagatcctaagcccaagc	11	7	9	14	0	1	2	1	1	0	1	2	2	2	2	4	1	4	1	4	1	3	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:49052506C>T	ENST00000395474.3	+	6	3521	c.3241C>T	c.(3241-3243)Ctc>Ttc	p.L1081F	WDR6_ENST00000415265.2_Missense_Mutation_p.L499F|WDR6_ENST00000448293.1_Missense_Mutation_p.L1000F	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	1051					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGTGACAGGCCTCAAGATCCT	0.567													12	18					0	0	0	0	T	49052506	C	T	49052506	3	4	419	1	0	0	0	0	1	0	0	0	17406	681	24	4	3263	4	WDR6	3	49052506	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08		49052506	148969924	28	83037											
VPRBP	9730	broad.mit.edu	37	chr3	51517821	51517821	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctcagctttggagtcCacatgtaccactactgtagt	9	12	10	10	0	1	1	1	1	0	0	2	2	2	2	2	1	4	4	2	1	3	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:51517821C>A	ENST00000335891.5	-	1	33	c.24G>T	c.(22-24)gtG>gtT	p.V8V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	8					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTTTGGAGTCCACATGTACCA	0.413													13	62					4.3838e-07	4.92778e-07	1	0	A	51517821	C	A	51517821	2	1	419	1	0	0	0	0	0	0	0	1	17281	581	21	4		4	VPRBP	3	51517821	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	2465315	51517821	146504609	29	83038											
SLCO2A1	6578	broad.mit.edu	37	chr3	133667421	133667421	+	Frame_Shift_Del	DEL	T	T	-																															ctgctgaggtgccatactgcTtctccaggaacttgttgagg																										TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:133667421delT	ENST00000310926.4	-	8	1337	c.1064delA	c.(1063-1065)agfs	p.K355fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Del_p.K279fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	355					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCATACTGCTTCTCCAGGAA	0.597													47	175	---	---	---	---					-	133667421	T	-	133667421	7	5	419	1	0	1	0	1	0	0	0	0	14814	1609	56	0	895	0	SLCO2A1	3	133667421	Frame_Shift_Del	DEL	T	TCGA-HD-7917-01A-11D-2229-08	82149600	133667421	64355009	30	83039											
ESYT3	83850	broad.mit.edu	37	chr3	138180986	138180986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctggtgctgcccaacCgtgtgactgtgcctgtgaag	6	9	12	14	1	0	2	0	2	0	0	0	2	0	2	5	1	4	1	5	1	2	0			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:138180986C>T	ENST00000389567.4	+	8	1039	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	ESYT3_ENST00000289135.4_Missense_Mutation_p.R285C	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	285						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCTGCCCAACCGTGTGACTGT	0.607													16	43					0	0	0	0	T	138180986	C	T	138180986	3	4	419	1	0	0	0	0	1	0	0	0	5304	652	23	1	883	1	ESYT3	3	138180986	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	4513565	138180986	59841444	31	83040											
RASA2	5922	broad.mit.edu	37	chr3	141328287	141328287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctgcagacatccaaataGatattgatgaagacagagaa	17	8	8	8	0	0	6	0	2	0	4	2	7	2	6	2	0	1	1	2	0	5	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:141328287G>C	ENST00000286364.3	+	22	2286	c.2251G>C	c.(2251-2253)Gat>Cat	p.D751H	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.D752H			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	751					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CATCCAAATAGATATTGATGA	0.303													19	75					0	0	0	0	C	141328287	G	C	141328287	3	2	419	1	0	0	0	0	1	0	0	0	13143	942	33	2	2337	2	RASA2	3	141328287	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	3147301	141328287	56694143	32	83041											
DNAJB11	51726	broad.mit.edu	37	chr3	186302282	186302282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaagaaaggggaagggCtccccaactttgacaacaac	15	6	11	9	0	0	2	0	1	0	1	1	4	1	4	2	4	3	1	2	4	7	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:186302282C>A	ENST00000439351.1	+	10	1845	c.916C>A	c.(916-918)Ctc>Atc	p.L306I	DNAJB11_ENST00000265028.3_Missense_Mutation_p.L306I			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	306					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGGGAAGGGCTCCCCAACTT	0.453													4	72					0.00024832	0.000267422	1	0	A	186302282	C	A	186302282	3	1	419	1	0	0	0	0	1	0	0	0	4652	797	28	4	950	4	DNAJB11	3	186302282	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	44973995	186302282	11720148	33	83042											
APOD	347	broad.mit.edu	37	chr3	195295977	195295977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagttctcatagtcggtggCcaggatccagtacggtgccg	8	10	13	10	3	1	0	1	0	1	0	4	1	2	1	3	4	2	2	3	4	3	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:195295977C>T	ENST00000343267.3	-	5	725	c.364G>A	c.(364-366)Gcc>Acc	p.A122T		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	122					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TAGTCGGTGGCCAGGATCCAG	0.488													13	83					0	0	0	0	T	195295977	C	T	195295977	3	4	419	1	0	0	0	0	1	0	0	0	803	739	26	4	209	4	APOD	3	195295977	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	8993695	195295977	2726453	34	83043											
UGDH	7358	broad.mit.edu	37	chr4	39511382	39511382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaaatttgaatttaccaAcactggcttttagaaacttg	16	13	6	6	0	0	3	0	1	0	2	0	3	0	3	1	1	3	1	1	1	7	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr4:39511382A>C	ENST00000316423.6	-	6	1151	c.809T>G	c.(808-810)gTt>gGt	p.V270G	UGDH_ENST00000507089.1_Missense_Mutation_p.V173G|UGDH_ENST00000506179.1_Missense_Mutation_p.V270G|UGDH_ENST00000501493.2_Missense_Mutation_p.V203G	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	270	Substrate binding.				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAATTTACCAACACTGGCTTT	0.378													9	25					0	0	0	0	C	39511382	A	C	39511382	3	2	419	1	0	0	0	0	1	0	0	0	17036	43	2	5	703	5	UGDH	4	39511382	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08		39511382	151642894	35	83044											
LPHN3	23284	broad.mit.edu	37	chr4	62935975	62935975	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctataaccataacgagacCgccctagagaaaaagattct	16	7	8	10	2	1	3	0	0	1	3	1	5	1	3	3	1	2	1	3	1	6	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr4:62935975C>T	ENST00000514591.1	+	25	4088	c.3759C>T	c.(3757-3759)acC>acT	p.T1253T	LPHN3_ENST00000506746.1_Silent_p.T1355T|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000508946.1_Silent_p.T1296T|LPHN3_ENST00000506720.1_Silent_p.T1364T|LPHN3_ENST00000514996.1_Silent_p.T1287T|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.T1253T|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000507625.1_Silent_p.T1312T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1231					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						ATAACGAGACCGCCCTAGAGA	0.458													4	9					0	0	0	0	T	62935975	C	T	62935975	2	4	419	1	0	0	0	0	0	0	0	1	8981	639	23	1		1	LPHN3	4	62935975	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	23424593	62935975	128218301	36	83045											
CCT5	22948	broad.mit.edu	37	chr5	10254818	10254818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtggataaggatggaGatgtgactgtaactaatgat	13	12	14	2	0	0	4	0	3	0	1	0	7	0	6	0	4	1	1	0	4	3	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:10254818G>T	ENST00000280326.4	+	3	619	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	CCT5_ENST00000503026.1_Missense_Mutation_p.D46Y|CCT5_ENST00000515676.1_Missense_Mutation_p.D29Y|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000506600.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	67					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TAAGGATGGAGATGTGACTGT	0.413													49	55					1.35964e-18	1.58624e-18	1	0	T	10254818	G	T	10254818	3	4	419	1	0	0	0	0	1	0	0	0	2985	942	33	2	209	2	CCT5	5	10254818	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		10254818	170660442	37	83046											
ROPN1L	83853	broad.mit.edu	37	chr5	10461353	10461353	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacggacgatccggagggcGggcccgctcgcatccccttc	5	6	13	17	6	1	0	1	0	0	0	5	3	3	2	4	4	0	2	4	4	0	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:10461353G>C	ENST00000503804.1	+	5	996	c.475G>C	c.(475-477)Ggg>Cgg	p.G159R	ROPN1L_ENST00000274134.4_Missense_Mutation_p.G159R|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	159					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						TCCGGAGGGCGGGCCCGCTCG	0.567													15	87					0	0	0	0	C	10461353	G	C	10461353	3	2	419	1	0	0	0	0	1	0	0	0	13610	1116	39	3	489	3	ROPN1L	5	10461353	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	206535	10461353	170453907	38	83047											
SPEF2	79925	broad.mit.edu	37	chr5	35704673	35704673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagctgaagaattgtcctatAaaactgctcacgaagatatc	15	11	7	8	1	1	3	1	1	0	2	3	4	2	3	1	0	3	2	1	0	8	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:35704673A>G	ENST00000440995.2	+	17	2401	c.2401A>G	c.(2401-2403)Aaa>Gaa	p.K801E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.K806E|SPEF2_ENST00000509059.1_Missense_Mutation_p.K801E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	806					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGTCCTATAAAACTGCTCA	0.328													28	31					0	0	0	0	G	35704673	A	G	35704673	3	3	419	1	0	0	0	0	1	0	0	0	15125	363	13	5	2503	5	SPEF2	5	35704673	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	25243320	35704673	145210587	39	83048											
RICTOR	253260	broad.mit.edu	37	chr5	38967297	38967297	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgaataaatgcagagagtAtcagtgccaaataattatcc	17	10	7	7	1	1	1	1	0	0	1	2	3	2	1	2	0	3	2	2	0	8	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:38967297A>T	ENST00000357387.3	-	14	1214	c.1184T>A	c.(1183-1185)aTa>aAa	p.I395K	RICTOR_ENST00000296782.5_Missense_Mutation_p.I395K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	395					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGCAGAGAGTATCAGTGCCAA	0.318													133	139					0	0	0	0	T	38967297	A	T	38967297	3	4	419	1	0	0	0	0	1	0	0	0	13441	449	16	5	4042	5	RICTOR	5	38967297	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	3262624	38967297	141947963	40	83049											
ETF1	2107	broad.mit.edu	37	chr5	137847182	137847182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctattaatttcttctcttGaatgaatttcacgttggaga	11	17	6	7	1	3	3	1	2	2	1	4	4	3	3	1	1	0	1	1	1	4	7			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:137847182G>T	ENST00000499810.2	-	7	1193	c.745C>A	c.(745-747)Caa>Aaa	p.Q249K	ETF1_ENST00000503014.1_Missense_Mutation_p.Q268K|ETF1_ENST00000360541.5_Missense_Mutation_p.Q282K			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	282					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTCTCTTGAATGAATTTC	0.353													12	12					2.80697e-09	3.20203e-09	1	0	T	137847182	G	T	137847182	3	4	419	1	0	0	0	0	1	0	0	0	5306	1299	45	2	489	2	ETF1	5	137847182	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	98879885	137847182	43068078	41	83050											
SPINK5	11005	broad.mit.edu	37	chr5	147503463	147503463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccagagaaaataaccCtgttcgaggcccatatggca	13	7	9	12	1	0	1	0	0	0	1	1	3	0	1	3	2	2	3	3	2	4	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:147503463C>G	ENST00000359874.3	+	27	2679	c.2606C>G	c.(2605-2607)cCt>cGt	p.P869R	SPINK5_ENST00000256084.7_Missense_Mutation_p.P869R|SPINK5_ENST00000398454.1_Missense_Mutation_p.P869R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	869	Kazal-like 13.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATAACCCTGTTCGAGGC	0.398													8	8					0	0	0	0	G	147503463	C	G	147503463	3	3	419	1	0	0	0	0	1	0	0	0	15152	681	24	4	2712	4	SPINK5	5	147503463	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	9656281	147503463	33411797	42	83051											
FAT2	2196	broad.mit.edu	37	chr5	150928976	150928976	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgcctcataatggagctGagtgaagcggggtgggtgga	9	9	17	6	1	1	2	1	2	0	0	1	4	1	4	1	5	3	1	1	5	2	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:150928976G>A	ENST00000261800.5	-	8	4681	c.4669C>T	c.(4669-4671)Cag>Tag	p.Q1557*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1557	Cadherin 14.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.Q1557E(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATGGAGCTGAGTGAAGCGG	0.572													8	25					0	0	0	0	A	150928976	G	A	150928976	4	1	419	1	0	0	0	0	0	1	0	0	5735	1299	45	2	8444	2	FAT2	5	150928976	Nonsense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	3425513	150928976	29986284	43	83052											
GABRB2	2561	broad.mit.edu	37	chr5	160761787	160761787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccttgcagctgaagcatcGtaattaatccagaaggagac	14	8	9	10	1	0	3	0	1	0	2	2	4	1	3	2	1	3	4	2	1	4	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:160761787G>A	ENST00000274547.2	-	8	1021	c.804C>T	c.(802-804)taC>taT	p.Y268Y	GABRB2_ENST00000393959.1_Silent_p.Y268Y|GABRB2_ENST00000353437.6_Silent_p.Y268Y|GABRB2_ENST00000517547.1_Silent_p.Y108Y|GABRB2_ENST00000520240.1_Silent_p.Y268Y|GABRB2_ENST00000517901.1_Silent_p.Y205Y	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	268					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGAAGCATCGTAATTAATCC	0.433													4	50					0	0	0	0	A	160761787	G	A	160761787	2	1	419	1	0	0	0	0	0	0	0	1	6215	1140	40	1		1	GABRB2	5	160761787	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	9832811	160761787	20153473	44	83053											
NSD1	64324	broad.mit.edu	37	chr5	176639004	176639004	+	Frame_Shift_Del	DEL	G	G	-																															ctgtgcaggaggggcgggatGagtttccagagcatagaact																										TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:176639004delG	ENST00000439151.2	+	5	3649	c.3604delG	c.(3604-3606)agfs	p.E1202fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.E1099fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.E933fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.E933fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1202					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGGGCGGGATGAGTTTCCAGA	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			28	19	---	---	---	---					-	176639004	G	-	176639004	7	5	419	1	0	1	0	1	0	0	0	0	10740	1291	45	0	3618	0	NSD1	5	176639004	Frame_Shift_Del	DEL	G	TCGA-HD-7917-01A-11D-2229-08	15877217	176639004	4276256	45	83054											
RUNX2	860	broad.mit.edu	37	chr6	45514978	45514978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacgctgatggaagccacaGcagttccccaactgttttga	10	10	10	11	1	0	3	0	3	0	0	1	4	1	4	3	1	3	4	3	1	2	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:45514978G>A	ENST00000371438.1	+	8	1860	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	RUNX2_ENST00000371436.6_Missense_Mutation_p.S479N|RUNX2_ENST00000541979.1_Missense_Mutation_p.S547N|RUNX2_ENST00000352853.5_Missense_Mutation_p.S569N|RUNX2_ENST00000465038.2_Missense_Mutation_p.S501N|RUNX2_ENST00000371432.3_Missense_Mutation_p.S465N|RUNX2_ENST00000359524.5_Missense_Mutation_p.S487N|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	501	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGAAGCCACAGCAGTTCCCCA	0.493													5	194					0	0	0	0	A	45514978	G	A	45514978	3	1	419	1	0	0	0	0	1	0	0	0	13833	971	34	4	1548	4	RUNX2	6	45514978	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		45514978	125600089	46	83055											
BAI3	577	broad.mit.edu	37	chr6	69949024	69949024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctggctaggtacatacGctctgagagatccataatac	11	11	8	11	1	2	2	0	1	2	1	4	3	3	2	1	2	3	3	1	2	5	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:69949024G>A	ENST00000370598.1	+	20	3541	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H	BAI3_ENST00000238918.8_Missense_Mutation_p.R113H	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	907					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R907P(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGTACATACGCTCTGAGAGA	0.368													26	77					0	0	0	0	A	69949024	G	A	69949024	3	1	419	1	0	0	0	0	1	0	0	0	1304	1087	38	1	2790	1	BAI3	6	69949024	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	24434046	69949024	101166043	47	83056											
LCA5	167691	broad.mit.edu	37	chr6	80197508	80197508	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtaccttccagtttccCactctggcttttcttctctt	3	19	6	13	0	3	0	0	0	3	0	6	0	5	0	3	2	1	4	3	2	1	8			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:80197508C>T	ENST00000392959.1	-	9	1918	c.1307G>A	c.(1306-1308)tGg>tAg	p.W436*	LCA5_ENST00000369846.4_Nonsense_Mutation_p.W436*	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	436					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCCAGTTTCCCACTCTGGCTT	0.348													17	41					0	0	0	0	T	80197508	C	T	80197508	4	4	419	1	0	0	0	0	0	1	0	0	8709	595	21	4	790	4	LCA5	6	80197508	Nonsense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	10248484	80197508	90917559	48	83057											
MDN1	23195	broad.mit.edu	37	chr6	90406286	90406286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atatgggtctattgagattgCcggggccctaaaggacaaga	12	9	13	7	1	1	2	0	1	1	2	1	4	1	3	2	4	1	0	2	4	5	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:90406286C>T	ENST00000369393.3	-	60	9291	c.9176G>A	c.(9175-9177)gGc>gAc	p.G3059D	MDN1_ENST00000428876.1_Missense_Mutation_p.G3059D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3059					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTGAGATTGCCGGGGCCCTA	0.453													3	50					0	0	0	0	T	90406286	C	T	90406286	3	4	419	1	0	0	0	0	1	0	0	0	9484	739	26	4	7786	4	MDN1	6	90406286	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	10208778	90406286	80708781	49	83058											
EPHA7	2045	broad.mit.edu	37	chr6	93965560	93965560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacagtagttgtatagaCagcttctggatcatcctcta	10	15	7	9	0	4	1	1	0	3	1	5	2	5	2	1	1	2	4	1	1	5	7			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:93965560C>A	ENST00000369303.4	-	13	2552	c.2368G>T	c.(2368-2370)Gtc>Ttc	p.V790F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	790	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTTGTATAGACAGCTTCTGGA	0.383													13	36					5.50884e-06	6.14754e-06	1	0	A	93965560	C	A	93965560	3	1	419	1	0	0	0	0	1	0	0	0	5210	478	17	4	648	4	EPHA7	6	93965560	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	3559274	93965560	77149507	50	83059											
SIM1	6492	broad.mit.edu	37	chr6	100896374	100896374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggagtccagaaagatgaGcttcatgtccaggctggcgc	9	8	13	11	1	1	3	1	1	0	2	3	4	3	4	3	3	1	2	3	3	1	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:100896374G>C	ENST00000369208.3	-	7	1506	c.724C>G	c.(724-726)Ctc>Gtc	p.L242V	SIM1_ENST00000262901.4_Missense_Mutation_p.L242V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	242	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGAAAGATGAGCTTCATGTCC	0.607													7	21					0	0	0	0	C	100896374	G	C	100896374	3	2	419	1	0	0	0	0	1	0	0	0	14411	971	34	4	1600	4	SIM1	6	100896374	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	6930814	100896374	70218693	51	83060											
ENPP3	5169	broad.mit.edu	37	chr6	132006586	132006586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttctacatgtacgaaggGcctgccccccgcatccgagc	7	9	9	16	3	2	0	0	0	2	0	3	2	3	0	5	1	4	2	5	1	3	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:132006586G>A	ENST00000414305.1	+	14	1531	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	ENPP3_ENST00000357639.3_Silent_p.G401G|ENPP3_ENST00000358229.5_Silent_p.G401G			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	401	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TGTACGAAGGGCCTGCCCCCC	0.358													16	171					0	0	0	0	A	132006586	G	A	132006586	2	1	419	1	0	0	0	0	0	0	0	1	5169	1190	42	4		4	ENPP3	6	132006586	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	31110212	132006586	39108481	52	83061											
PLEKHG1	57480	broad.mit.edu	37	chr6	151151873	151151873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagatcaggcaagccttGtttcccagccgacggtcccc	8	7	9	17	2	1	1	1	0	0	1	3	2	3	1	6	2	2	2	6	2	1	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:151151873G>C	ENST00000367328.1	+	16	1938	c.1626G>C	c.(1624-1626)ttG>ttC	p.L542F	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.L542F	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	542					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGCAAGCCTTGTTTCCCAGCC	0.512													6	39					0	0	0	0	C	151151873	G	C	151151873	3	2	419	1	0	0	0	0	1	0	0	0	12140	1368	48	4	1680	4	PLEKHG1	6	151151873	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	19145287	151151873	19963194	53	83062											
DGKB	1607	broad.mit.edu	37	chr7	14378224	14378224	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctattcgtcgatggcttcGtcttttcttagactctcccc	4	17	6	14	3	4	1	0	0	4	1	8	2	4	1	2	1	0	1	2	1	2	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:14378224G>A	ENST00000403951.2	-	23	2460	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	DGKB_ENST00000402815.1_Nonsense_Mutation_p.R680*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R662*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R673*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R681*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R681*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					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.R681*(2)		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)	CGATGGCTTCGTCTTTTCTTA	0.398													10	76					0	0	0	0	A	14378224	G	A	14378224	4	1	419	1	0	0	0	0	0	1	0	0	4503	1153	40	1	404	1	DGKB	7	14378224	Nonsense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		14378224	144760439	54	83063											
SEPT7	989	broad.mit.edu	37	chr7	35903185	35903185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggattgggaaagtcgAcattaatcaactcattattc	14	13	7	7	1	3	0	2	0	1	0	5	3	3	2	0	2	1	0	0	2	5	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:35903185A>G	ENST00000494488.2	+	3	151	c.151A>G	c.(151-153)Aca>Gca	p.T51A	SEPT7_ENST00000399034.2_Missense_Mutation_p.T66A|SEPT7_ENST00000399035.3_Missense_Mutation_p.T64A|SEPT7_ENST00000435235.1_Missense_Mutation_p.T12A|SEPT7_ENST00000350320.6_Missense_Mutation_p.T64A|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.T64A			Q16181	SEPT7_HUMAN	septin 7	65					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GGGAAAGTCGACATTAATCAA	0.333													4	18					0	0	0	0	G	35903185	A	G	35903185	3	3	419	1	0	0	0	0	1	0	0	0	14156	275	10	5	201	5	SEPT7	7	35903185	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	21524961	35903185	123235478	55	83064											
INHBA	3624	broad.mit.edu	37	chr7	41739741	41739741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaagcgccgccttgggtaCcggctgggtgacatcgggtc	6	7	16	12	4	0	2	0	1	0	1	2	2	0	2	3	4	2	2	3	4	2	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:41739741C>G	ENST00000242208.4	-	2	478	c.232G>C	c.(232-234)Gta>Cta	p.V78L	INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.V78L|INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	78					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCTTGGGTACCGGCTGGGTG	0.532										TSP Lung(11;0.080)			23	577					0	0	0	0	G	41739741	C	G	41739741	3	3	419	1	0	0	0	0	1	0	0	0	7794	507	18	4	1056	4	INHBA	7	41739741	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	5836556	41739741	117398922	56	83065											
AEBP1	165	broad.mit.edu	37	chr7	44144370	44144370	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccgacgacgagatcgagGagttcctcgagggcttcctg	8	8	14	11	5	0	2	0	1	0	1	4	8	2	3	3	2	0	2	3	2	0	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:44144370G>T	ENST00000223357.3	+	1	411	c.106G>T	c.(106-108)Gag>Tag	p.E36*		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	36					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CGAGATCGAGGAGTTCCTCGA	0.726													3	21					1	1	1	0	T	44144370	G	T	44144370	4	4	419	1	0	0	0	0	0	1	0	0	349	1175	41	2	108	2	AEBP1	7	44144370	Nonsense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	2404629	44144370	114994293	57	83066											
TFR2	7036	broad.mit.edu	37	chr7	100238728	100238728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcccctcagctccatggGgcagaagtgggccaatgtct	8	7	14	12	0	2	1	1	0	1	1	3	1	3	1	4	4	1	2	4	4	2	0			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:100238728G>A	ENST00000462107.1	-	3	444	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	TFR2_ENST00000431692.1_Missense_Mutation_p.P53S|TFR2_ENST00000223051.3_Missense_Mutation_p.P53S			Q9UP52	TFR2_HUMAN	transferrin receptor 2	53					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCTCCATGGGGCAGAAGTGG	0.672													3	15					0	0	0	0	A	100238728	G	A	100238728	3	1	419	1	0	0	0	0	1	0	0	0	15905	1232	43	4	2316	4	TFR2	7	100238728	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	56094358	100238728	58899935	58	83067											
GIMAP2	26157	broad.mit.edu	37	chr7	150389615	150389615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattattgacacaccagatAtgttttcttggaaggaccac	12	13	7	9	0	2	2	1	1	1	1	2	4	2	4	2	2	0	1	2	2	3	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:150389615A>G	ENST00000223293.5	+	3	335	c.241A>G	c.(241-243)Atg>Gtg	p.M81V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	81						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACACCAGATATGTTTTCTTG	0.483													10	26					0	0	0	0	G	150389615	A	G	150389615	3	3	419	1	0	0	0	0	1	0	0	0	6431	449	16	5	247	5	GIMAP2	7	150389615	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	50150887	150389615	8749048	59	83068											
ATP6V1B2	526	broad.mit.edu	37	chr8	20074763	20074763	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaatgtgctgccctcactAtcacggttaatgaagtctgc	10	12	8	11	1	4	1	3	1	1	0	4	1	4	1	1	1	3	2	1	1	4	2	rs150784341	byFrequency	TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr8:20074763A>G	ENST00000276390.2	+	12	1234	c.1194A>G	c.(1192-1194)ctA>ctG	p.L398L		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	398					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TGCCCTCACTATCACGGTTAA	0.373													19	94					0	0	0	0	G	20074763	A	G	20074763	2	3	419	1	0	0	0	0	0	0	0	1	1183	436	16	5		5	ATP6V1B2	8	20074763	Silent	SNP	A	TCGA-HD-7917-01A-11D-2229-08		20074763	126289259	60	83069											
CRISPLD1	83690	broad.mit.edu	37	chr8	75928804	75928804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctttctctaacagaaggGtcagacaggtattatccccc	10	11	8	12	0	2	2	1	0	1	2	4	2	3	2	2	2	2	2	2	2	4	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr8:75928804G>A	ENST00000262207.4	+	7	1200	c.732G>A	c.(730-732)ggG>ggA	p.G244G	CRISPLD1_ENST00000523524.1_Silent_p.G56G|CRISPLD1_ENST00000517786.1_Silent_p.G58G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	244						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAACAGAAGGGTCAGACAGGT	0.353													11	114					0	0	0	0	A	75928804	G	A	75928804	2	1	419	1	0	0	0	0	0	0	0	1	3912	1248	44	4		4	CRISPLD1	8	75928804	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	55854041	75928804	70435218	61	83070											
VPS13B	157680	broad.mit.edu	37	chr8	100286454	100286454	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaagaatcccctgccaacTcttgagggctcaatccagaa	12	9	7	13	0	3	3	1	1	2	2	5	3	5	3	4	1	2	1	4	1	5	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr8:100286454T>G	ENST00000395996.1	+	18	2655	c.2544T>G	c.(2542-2544)acT>acG	p.T848T	VPS13B_ENST00000358544.2_Silent_p.T848T|VPS13B_ENST00000357162.2_Silent_p.T848T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	848					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTGCCAACTCTTGAGGGCT	0.378													52	75					0	0	0	0	G	100286454	T	G	100286454	2	3	419	1	0	0	0	0	0	0	0	1	17286	1538	54	5		5	VPS13B	8	100286454	Silent	SNP	T	TCGA-HD-7917-01A-11D-2229-08	24357650	100286454	46077568	62	83071											
PLIN2	123	broad.mit.edu	37	chr9	19126393	19126393	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggctactcaaaattcatAccggttgtggatcaactgca	14	10	8	9	1	3	0	3	0	0	0	3	1	3	1	1	3	4	3	1	3	6	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr9:19126393A>G	ENST00000276914.2	-	2	210		c.e2+1		PLIN2_ENST00000380464.3_Splice_Site|PLIN2_ENST00000380465.3_Splice_Site|PLIN2_ENST00000411567.1_Splice_Site	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2						cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CAAAATTCATACCGGTTGTGG	0.423													6	81					0	0	0	0	G	19126393	A	G	19126393	5	3	419	1	0	0	0	0	0	0	1	0	12162	405	14	5	1309	5	PLIN2	9	19126393	Splice_Site	SNP	A	TCGA-HD-7917-01A-11D-2229-08		19126393	122087038	63	83072											
C9orf91	203197	broad.mit.edu	37	chr9	117389236	117389236	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttggagccccaagtgAgaagatatatcatctacaac	13	9	7	12	0	3	2	1	1	2	2	3	4	3	3	3	1	3	0	3	1	6	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr9:117389236A>T	ENST00000374049.4	+	4	714	c.277A>T	c.(277-279)Aga>Tga	p.R93*	C9orf91_ENST00000471206.1_3'UTR|C9orf91_ENST00000288502.4_Nonsense_Mutation_p.R92*	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	92						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GCCCCAAGTGAGAAGATATAT	0.582													12	124					0	0	0	0	T	117389236	A	T	117389236	4	4	419	1	0	0	0	0	0	1	0	0	2530	296	11	5	284	5	C9orf91	9	117389236	Nonsense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	98262843	117389236	23824195	64	83073											
DNM1	1759	broad.mit.edu	37	chr9	130982587	130982587	+	Frame_Shift_Del	DEL	G	G	-																															cgccacttggctgaccgtatGggcacgccctacctgcagaa																										TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr9:130982587delG	ENST00000341179.7	+	6	908	c.816delG	c.(814-816)atfs	p.M272fs	DNM1_ENST00000475805.1_Frame_Shift_Del_p.M272fs|DNM1_ENST00000372923.3_Frame_Shift_Del_p.M272fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.M272fs|DNM1_ENST00000486160.1_Frame_Shift_Del_p.M272fs	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	272					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTGACCGTATGGGCACGCCCT	0.522													53	39	---	---	---	---					-	130982587	G	-	130982587	7	5	419	1	0	1	0	1	0	0	0	0	4706	1348	47	0	838	0	DNM1	9	130982587	Frame_Shift_Del	DEL	G	TCGA-HD-7917-01A-11D-2229-08	13593351	130982587	10230844	65	83074											
CUBN	8029	broad.mit.edu	37	chr10	16943387	16943387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgaagagcagtgggtcaGgctgtcataagcatttggat	11	9	14	7	1	2	1	2	0	0	1	2	3	2	2	0	3	3	3	0	3	2	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr10:16943387G>T	ENST00000377833.4	-	52	8199	c.8134C>A	c.(8134-8136)Ctg>Atg	p.L2712M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2712	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGTGGGTCAGGCTGTCATAA	0.478													21	66					8.04996e-18	9.321e-18	1	0	T	16943387	G	T	16943387	3	4	419	1	0	0	0	0	1	0	0	0	4083	991	35	4	2801	4	CUBN	10	16943387	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		16943387	118591360	66	83075											
JMJD1C	221037	broad.mit.edu	37	chr10	64975454	64975454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgacattctgtggttctagTacctaatccatgatacaaaa	13	13	6	9	1	2	1	0	1	2	0	4	2	3	1	2	1	2	2	2	1	6	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr10:64975454T>C	ENST00000399262.2	-	6	899	c.681A>G	c.(679-681)gtA>gtG	p.V227V	JMJD1C_ENST00000402544.1_Silent_p.V8V|JMJD1C_ENST00000542921.1_Silent_p.V45V|JMJD1C_ENST00000399251.1_Silent_p.V8V|JMJD1C_ENST00000489372.2_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	227					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTGGTTCTAGTACCTAATCCA	0.299													6	11					0	0	0	0	C	64975454	T	C	64975454	2	2	419	1	0	0	0	0	0	0	0	1	8003	1625	57	5		5	JMJD1C	10	64975454	Silent	SNP	T	TCGA-HD-7917-01A-11D-2229-08	48032067	64975454	70559293	67	83076											
C10orf118	55088	broad.mit.edu	37	chr10	115891782	115891782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attgtgactgcaaagaattgGattcagactgaagctgtgca	13	11	11	6	0	1	4	1	2	0	2	1	5	1	5	0	1	3	3	0	1	3	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr10:115891782G>A	ENST00000369287.3	-	11	2083	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	C10orf118_ENST00000543782.1_Missense_Mutation_p.S204F	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	606										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CAAAGAATTGGATTCAGACTG	0.378													19	43					0	0	0	0	A	115891782	G	A	115891782	3	1	419	1	0	0	0	0	1	0	0	0	1597	1174	41	2	903	2	C10orf118	10	115891782	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	50916328	115891782	19642965	68	83077											
P2RX3	5024	broad.mit.edu	37	chr11	57114059	57114059	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaccaggtacgggacaCagccattgagtcctcggtgg	8	8	14	11	2	0	1	0	1	0	0	2	2	1	2	3	5	3	2	3	5	2	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:57114059C>G	ENST00000263314.2	+	2	195	c.161C>G	c.(160-162)aCa>aGa	p.T54R		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	54					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GTACGGGACACAGCCATTGAG	0.537													6	32					0	0	0	0	G	57114059	C	G	57114059	3	3	419	1	0	0	0	0	1	0	0	0	11412	478	17	4	167	4	P2RX3	11	57114059	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08		57114059	77892457	69	83078											
SUV420H1	51111	broad.mit.edu	37	chr11	67939048	67939048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacccagccagagttgaGcacagtttttccttgtggag	9	10	12	10	0	0	2	0	1	0	1	1	4	1	4	3	2	2	3	3	2	0	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:67939048G>C	ENST00000304363.4	-	7	1135	c.782C>G	c.(781-783)gCt>gGt	p.A261G	SUV420H1_ENST00000402185.2_Missense_Mutation_p.A238G|SUV420H1_ENST00000405515.1_Missense_Mutation_p.A261G|SUV420H1_ENST00000402789.1_Missense_Mutation_p.A261G|SUV420H1_ENST00000401547.2_Missense_Mutation_p.A261G	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	261	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCAGAGTTGAGCACAGTTTTT	0.463													19	28					0	0	0	0	C	67939048	G	C	67939048	3	2	419	1	0	0	0	0	1	0	0	0	15504	971	34	4	1903	4	SUV420H1	11	67939048	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	10824989	67939048	67067468	70	83079											
PPFIA1	8500	broad.mit.edu	37	chr11	70222703	70222703	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactgatagaaggtttgaTgaagtaagtttttggcctaa	12	13	13	3	0	0	4	0	3	0	1	0	5	0	5	1	3	0	3	1	3	5	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:70222703T>C	ENST00000253925.7	+	25	3596	c.3381T>C	c.(3379-3381)gaT>gaC	p.D1127D	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Silent_p.D1127D|AP000487.5_ENST00000500185.2_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1127					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAGGTTTGATGAAGTAAGTT	0.323													15	59					0	0	0	0	C	70222703	T	C	70222703	2	2	419	1	0	0	0	0	0	0	0	1	12380	1461	51	5		5	PPFIA1	11	70222703	Silent	SNP	T	TCGA-HD-7917-01A-11D-2229-08	2283655	70222703	64783813	71	83080											
INPPL1	3636	broad.mit.edu	37	chr11	71948273	71948273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaggggtcccgcaccaGctgctgcccccggagccacc	6	5	12	18	2	0	1	0	1	0	0	1	2	1	2	6	3	4	3	6	3	1	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:71948273G>A	ENST00000298229.2	+	26	3189	c.2985G>A	c.(2983-2985)caG>caA	p.Q995Q	INPPL1_ENST00000538751.1_Silent_p.Q753Q|INPPL1_ENST00000541756.1_Silent_p.Q753Q	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	995	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			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						TCCCGCACCAGCTGCTGCCCC	0.642													17	156					0	0	0	0	A	71948273	G	A	71948273	2	1	419	1	0	0	0	0	0	0	0	1	7814	962	34	4		4	INPPL1	11	71948273	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	1725570	71948273	63058243	72	83081											
FOLR4	390243	broad.mit.edu	37	chr11	94040769	94040769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaccccaatgtggccGtggcccgcctcttcgccagc	6	6	12	17	3	1	0	0	0	1	0	2	0	1	0	6	3	2	1	6	3	2	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:94040769G>A	ENST00000440961.2	+	4	687	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	222						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CAATGTGGCCGTGGCCCGCCT	0.597													47	162					0	0	0	0	A	94040769	G	A	94040769	3	1	419	1	0	0	0	0	1	0	0	0	6029	1145	40	1	657	1	FOLR4	11	94040769	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	22092496	94040769	40965747	73	83082											
MMP12	4321	broad.mit.edu	37	chr11	102743642	102743642	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgggcccccctggcatttcCctgaaatgatggacatcggg	8	8	12	13	2	0	2	0	2	0	0	2	3	1	3	4	4	0	1	4	4	1	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:102743642C>A	ENST00000532855.1	-	0	399							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CTGGCATTTCCCTGAAATGAT	0.507													6	18					2.7689e-08	3.13537e-08	1	0	A	102743642	C	A	102743642	1	1	419	0	1	0	0	0	0	0	0	0	9720	622	22	4		4	MMP12	11	102743642	RNA	SNP	C	TCGA-HD-7917-01A-11D-2229-08	8702873	102743642	32262874	74	83083											
DDX10	1662	broad.mit.edu	37	chr11	108593764	108593764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccacgcgtaagatttcttCagaaaatgcagaaacaaccc	16	7	6	12	2	2	3	1	0	1	3	2	3	2	3	2	0	3	2	2	0	5	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:108593764C>G	ENST00000526794.1	+	13	1572	c.1540C>G	c.(1540-1542)Cag>Gag	p.Q514E	DDX10_ENST00000322536.3_Missense_Mutation_p.Q514E			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	514							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGATTTCTTCAGAAAATGCA	0.433			T	NUP98	AML*								4	33					0	0	0	0	G	108593764	C	G	108593764	3	3	419	1	0	0	0	0	1	0	0	0	4374	827	29	2	1590	2	DDX10	11	108593764	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	5850122	108593764	26412752	75	83084											
BAZ2A	11176	broad.mit.edu	37	chr12	56996583	56996583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtagcggtcctgacccaggGagaccgcccgaagcatctgg	8	6	14	13	3	1	2	0	1	1	1	2	4	2	2	4	3	2	2	4	3	2	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:56996583G>A	ENST00000179765.5	-	20	3447	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	BAZ2A_ENST00000551812.1_Missense_Mutation_p.S1115F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S1113F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S1085F			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1115					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTGACCCAGGGAGACCGCCCG	0.488													8	13					0	0	0	0	A	56996583	G	A	56996583	3	1	419	1	0	0	0	0	1	0	0	0	1335	1174	41	2	2417	2	BAZ2A	12	56996583	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		56996583	76855312	76	83085											
NACA	4666	broad.mit.edu	37	chr12	57112837	57112837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcaactggagaaacagggGatgagagatttccaatagga	15	8	12	6	0	1	3	1	1	0	2	2	7	2	5	1	4	2	0	1	4	4	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:57112837G>A	ENST00000454682.1	-	3	2758	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAACAGGGGATGAGAGATT	0.483			T	BCL6	NHL								4	19					0	0	0	0	A	57112837	G	A	57112837	3	1	419	1	0	0	0	0	1	0	0	0	10203	1174	41	2	3787	2	NACA	12	57112837	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	116254	57112837	76739058	77	83086											
MYBPC1	4604	broad.mit.edu	37	chr12	102064187	102064187	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctggttatacctttccaGgtaagagttcaagggtcgct	10	13	10	8	1	2	1	1	0	1	1	4	1	3	1	2	3	1	4	2	3	5	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:102064187G>C	ENST00000549145.1	+	24	2731	c.2631_splice	c.e24+1	p.Q877_splice	MYBPC1_ENST00000547405.1_Splice_Site_p.Q820_splice|MYBPC1_ENST00000545503.2_Splice_Site_p.Q846_splice|MYBPC1_ENST00000541119.1_Splice_Site_p.Q834_splice|MYBPC1_ENST00000441232.1_Splice_Site_p.Q864_splice|MYBPC1_ENST00000536007.1_Splice_Site_p.Q827_splice|MYBPC1_ENST00000553190.1_Splice_Site_p.Q846_splice|MYBPC1_ENST00000392934.3_Splice_Site_p.Q833_splice|MYBPC1_ENST00000551300.1_Splice_Site_p.Q747_splice|MYBPC1_ENST00000361685.2_Splice_Site_p.Q871_splice|MYBPC1_ENST00000361466.2_Splice_Site_p.Q871_splice|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Splice_Site_p.Q864_splice|MYBPC1_ENST00000547509.1_Splice_Site_p.Q832_splice|MYBPC1_ENST00000360610.2_Splice_Site_p.Q864_splice|MYBPC1_ENST00000452455.2_Splice_Site_p.Q864_splice			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	864	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TACCTTTCCAGGTAAGAGTTC	0.438													24	77					0	0	0	0	C	102064187	G	C	102064187	5	2	419	1	0	0	0	0	0	0	1	0	10081	1014	35	4	2765	4	MYBPC1	12	102064187	Splice_Site	SNP	G	TCGA-HD-7917-01A-11D-2229-08	44951350	102064187	31787708	78	83087											
HVCN1	84329	broad.mit.edu	37	chr12	111099133	111099133	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcctcctcctcttCattctcccatttcttgtagt	3	18	2	18	0	4	0	1	0	3	0	10	0	9	0	6	0	0	1	6	0	1	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:111099133C>A	ENST00000356742.5	-	3	895	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	HVCN1_ENST00000439744.2_Nonsense_Mutation_p.E28*|HVCN1_ENST00000242607.8_Nonsense_Mutation_p.E48*|HVCN1_ENST00000548312.1_Nonsense_Mutation_p.E48*			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	48	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						tcctcctcttcattctccCAT	0.607													9	25					0.000274275	0.000293322	1	0	A	111099133	C	A	111099133	4	1	419	1	0	0	0	0	0	1	0	0	7515	835	29	2	699	2	HVCN1	12	111099133	Nonsense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	9034946	111099133	22752762	79	83088											
RPH3A	22895	broad.mit.edu	37	chr12	113334490	113334490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatctctgccaagggagagCgcttaaaacactggtacgag	12	7	13	9	2	1	1	0	0	1	1	2	4	1	2	1	3	4	2	1	3	4	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:113334490C>T	ENST00000389385.4	+	22	2487	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C	RPH3A_ENST00000415485.3_Missense_Mutation_p.R664C|RPH3A_ENST00000551052.1_Missense_Mutation_p.R660C|RPH3A_ENST00000420983.2_Missense_Mutation_p.R664C|RPH3A_ENST00000548866.1_Missense_Mutation_p.R615C|RPH3A_ENST00000543106.2_Missense_Mutation_p.R664C|RPH3A_ENST00000447659.2_Missense_Mutation_p.R615C|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	664					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAAGGGAGAGCGCTTAAAACA	0.493													12	114					0	0	0	0	T	113334490	C	T	113334490	3	4	419	1	0	0	0	0	1	0	0	0	13636	768	27	1	2068	1	RPH3A	12	113334490	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	2235357	113334490	20517405	80	83089											
RNFT2	84900	broad.mit.edu	37	chr12	117217150	117217150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcctggctgtcaagtcCaaggtaggcactggctgcgg	8	9	13	11	1	2	0	2	0	0	0	4	0	4	0	2	5	1	4	2	5	3	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:117217150C>T	ENST00000257575.4	+	7	1112	c.879C>T	c.(877-879)tcC>tcT	p.S293S	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000392549.2_Silent_p.S293S|RNFT2_ENST00000407967.3_Silent_p.S293S			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	293						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CTGTCAAGTCCAAGGTAGGCA	0.547													14	31					0	0	0	0	T	117217150	C	T	117217150	2	4	419	1	0	0	0	0	0	0	0	1	13587	581	21	4		4	RNFT2	12	117217150	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	3882660	117217150	16634745	81	83090											
DGKH	160851	broad.mit.edu	37	chr13	42729853	42729853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgcacaactggtacgcCtgctcccacgcccgacccac	8	5	10	18	3	0	0	0	0	0	0	1	2	1	1	4	2	4	3	4	2	2	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr13:42729853C>A	ENST00000538674.1	+	2	183	c.38C>A	c.(37-39)cCt>cAt	p.P13H	DGKH_ENST00000536612.1_Silent_p.A44A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Silent_p.A180A|DGKH_ENST00000261491.4_Silent_p.A180A|DGKH_ENST00000540693.1_Silent_p.A180A|DGKH_ENST00000379274.2_Silent_p.A44A			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	970					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACTGGTACGCCTGCTCCCACG	0.532													5	55					0.184627	0.185834	1	0	A	42729853	C	A	42729853	3	1	419	1	0	0	0	0	1	0	0	0	4507	668	24	4	558	4	DGKH	13	42729853	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08		42729853	72440025	82	83091											
ZNF219	51222	broad.mit.edu	37	chr14	21558826	21558828	+	In_Frame_Del	DEL	GGG	GGG	-																															gggcggggacgcgtcagcctGgggtggccggcggcccctag																										TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr14:21558826_21558828delGGG	ENST00000360947.3	-	5	2447_2449	c.2036_2038delCCC	c.(2035-2040)cag>c	p.PQ679del	ZNF219_ENST00000451119.2_In_Frame_Del_p.PQ679del|ZNF219_ENST00000421093.2_In_Frame_Del_p.PQ679del|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	679					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCGTCAGCCTGGGGTGGCCGGCG	0.7													15	34	---	---	---	---					-	21558828	GGG	-	21558826	7	5	419	1	0	1	0	1	0	0	0	0	17868	1357	47	0	134	0	ZNF219	14	21558826	In_Frame_Del	DEL	GGG	TCGA-HD-7917-01A-11D-2229-08		21558826	85790714	83	83092											
ACIN1	22985	broad.mit.edu	37	chr14	23564343	23564343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgtgaggtactcgggtcCgtcccgacggcttcgggcat	4	10	15	12	6	0	1	0	1	0	0	4	2	2	1	2	4	2	3	2	4	1	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr14:23564343C>T	ENST00000262710.1	-	1	480	c.153G>A	c.(151-153)acG>acA	p.T51T	ACIN1_ENST00000605057.1_5'UTR|ACIN1_ENST00000555053.1_Silent_p.T51T|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000457657.1_Silent_p.T51T	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	51					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TACTCGGGTCCGTCCCGACGG	0.632													3	56					0	0	0	0	T	23564343	C	T	23564343	2	4	419	1	0	0	0	0	0	0	0	1	142	639	23	1		1	ACIN1	14	23564343	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	2005517	23564343	83785197	84	83093											
ASB2	51676	broad.mit.edu	37	chr14	94417353	94417353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagccactcaccgtacttgGctaagaacctcaaggcctcc	10	9	7	15	1	2	1	2	0	0	1	3	1	3	1	5	2	3	2	5	2	5	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr14:94417353G>A	ENST00000555019.1	-	6	1302	c.872C>T	c.(871-873)gCc>gTc	p.A291V	ASB2_ENST00000315988.4_Missense_Mutation_p.A243V|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	243					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		ACCGTACTTGGCTAAGAACCT	0.592													38	249					0	0	0	0	A	94417353	G	A	94417353	3	1	419	1	0	0	0	0	1	0	0	0	1027	1203	42	4	1055	4	ASB2	14	94417353	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	70853010	94417353	12932187	85	83094											
UNC13C	440279	broad.mit.edu	37	chr15	54614174	54614174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctaaatacatgtgccccGgtgtccctgccgtcatgagc	7	11	9	14	2	2	1	1	1	1	0	3	1	3	1	4	1	4	0	4	1	3	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr15:54614174G>T	ENST00000545554.1	+	13	4306	c.4306G>T	c.(4306-4308)Ggt>Tgt	p.G1436C	UNC13C_ENST00000260323.11_Missense_Mutation_p.G1436C|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1434C			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1436					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATGTGCCCCGGTGTCCCTGC	0.373													4	4					0.014758	0.0151515	1	0	T	54614174	G	T	54614174	3	4	419	1	0	0	0	0	1	0	0	0	17082	1116	39	3	4352	3	UNC13C	15	54614174	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		54614174	47917218	86	83095											
NARG2	79664	broad.mit.edu	37	chr15	60758824	60758824	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgggcatcatcagaaagcAtattataatcctgcgcacat	14	9	8	10	2	2	1	2	0	0	1	3	2	3	1	1	1	2	3	1	1	4	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr15:60758824A>C	ENST00000261520.4	-	5	731	c.497T>G	c.(496-498)aTg>aGg	p.M166R	NARG2_ENST00000439632.1_Missense_Mutation_p.M29R|NARG2_ENST00000561114.1_Missense_Mutation_p.M166R	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	166						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATCAGAAAGCATATTATAATC	0.348													15	36					0	0	0	0	C	60758824	A	C	60758824	3	2	419	1	0	0	0	0	1	0	0	0	10239	217	8	5	2499	5	NARG2	15	60758824	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	6144650	60758824	41772568	87	83096											
PIGQ	9091	broad.mit.edu	37	chr16	624737	624737	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttggccagcctgctgtcGctggtctcagctgtcagtgc	3	12	13	13	1	2	0	2	0	1	0	4	0	2	0	2	2	4	4	2	2	0	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:624737G>A	ENST00000321878.5	+	2	822	c.663G>A	c.(661-663)tcG>tcA	p.S221S	PIGQ_ENST00000026218.5_Silent_p.S221S|PIGQ_ENST00000409527.2_Silent_p.S221S|PIGQ_ENST00000470411.2_Silent_p.S221S	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	221	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCTGCTGTCGCTGGTCTCAG	0.662													3	15					0	0	0	0	A	624737	G	A	624737	2	1	419	1	0	0	0	0	0	0	0	1	11968	1074	38	1		1	PIGQ	16	624737	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08		624737	89730016	88	83097											
NAGPA	51172	broad.mit.edu	37	chr16	5083632	5083632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaggcggaggccaactctCgtgctcgcggttgccggcgc	4	6	18	13	6	1	0	0	0	1	0	3	2	1	2	2	6	3	2	2	6	1	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:5083632C>T	ENST00000312251.3	-	2	203	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.E62K	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	62					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCCAACTCTCGTGCTCGCGG	0.756													3	15					0	0	0	0	T	5083632	C	T	5083632	3	4	419	1	0	0	0	0	1	0	0	0	10214	893	31	1	1399	1	NAGPA	16	5083632	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	4458895	5083632	85271121	89	83098											
KIF22	3835	broad.mit.edu	37	chr16	29810641	29810641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagagggaaaactctacctGattgacttggctgggtcaga	11	9	13	8	1	2	4	1	2	1	2	2	6	2	5	1	3	2	1	1	3	3	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:29810641G>A	ENST00000561482.1	+	6	1249	c.612G>A	c.(610-612)ctG>ctA	p.L204L	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400751.5_Silent_p.L204L|KIF22_ENST00000569382.2_Silent_p.L204L|KIF22_ENST00000160827.4_Silent_p.L272L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	272	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AACTCTACCTGATTGACTTGG	0.577													9	14					0	0	0	0	A	29810641	G	A	29810641	2	1	419	1	0	0	0	0	0	0	0	1	8341	1277	45	2		2	KIF22	16	29810641	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	24727009	29810641	60544112	90	83099											
SRCAP	10847	broad.mit.edu	37	chr16	30735404	30735404	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcctggtgccagcttcGgctctggccagtccttttcc	2	13	10	16	1	1	0	0	0	1	0	5	0	4	0	6	3	2	2	6	3	0	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:30735404G>A	ENST00000262518.4	+	25	5044	c.4659G>A	c.(4657-4659)tcG>tcA	p.S1553S	SRCAP_ENST00000344771.4_Silent_p.S1395S|SRCAP_ENST00000395059.2_Silent_p.S1491S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1553	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCCAGCTTCGGCTCTGGCCA	0.592													23	37					0	0	0	0	A	30735404	G	A	30735404	2	1	419	1	0	0	0	0	0	0	0	1	15225	1103	39	1		1	SRCAP	16	30735404	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	924763	30735404	59619349	91	83100											
PHKB	5257	broad.mit.edu	37	chr16	47531396	47531396	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttggaccattattacagaAttggtgagtaaaacctgagg	14	11	11	5	0	0	3	0	2	0	1	0	4	0	4	2	3	2	2	2	3	5	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:47531396A>T	ENST00000455779.1	+	3	327	c.142A>T	c.(142-144)Att>Ttt	p.I48F	PHKB_ENST00000323584.5_Missense_Mutation_p.I55F|PHKB_ENST00000566044.1_Missense_Mutation_p.I48F|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Missense_Mutation_p.I55F			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	55					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTATTACAGAATTGGTGAGTA	0.353													6	14					0	0	0	0	T	47531396	A	T	47531396	3	4	419	1	0	0	0	0	1	0	0	0	11917	101	4	5	228	5	PHKB	16	47531396	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	16795992	47531396	42823357	92	83101											
PHKB	5257	broad.mit.edu	37	chr16	47722983	47722983	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgccatggagtatgaacttCagatccgtggcggagacaag	12	8	13	8	2	1	3	1	1	0	2	2	5	2	4	2	3	2	1	2	3	3	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:47722983C>T	ENST00000455779.1	+	28	2826	c.2641C>T	c.(2641-2643)Cag>Tag	p.Q881*	PHKB_ENST00000323584.5_Nonsense_Mutation_p.Q888*|PHKB_ENST00000566044.1_Nonsense_Mutation_p.Q881*|PHKB_ENST00000299167.8_Nonsense_Mutation_p.Q888*			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	888					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTATGAACTTCAGATCCGTGG	0.453													6	75					0	0	0	0	T	47722983	C	T	47722983	4	4	419	1	0	0	0	0	0	1	0	0	11917	827	29	2	2922	2	PHKB	16	47722983	Nonsense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	191587	47722983	42631770	93	83102											
NUDT21	11051	broad.mit.edu	37	chr16	56481891	56481891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaccaaaagtataattggTaagagggtacctgtgatccg	13	11	11	6	1	0	2	0	1	0	1	1	2	1	2	3	2	2	4	3	2	7	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:56481891T>C	ENST00000300291.5	-	2	299	c.127A>G	c.(127-129)Acc>Gcc	p.T43A		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	43	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						GTATAATTGGTAAGAGGGTAC	0.388													6	11					0	0	0	0	C	56481891	T	C	56481891	3	2	419	1	0	0	0	0	1	0	0	0	10809	1638	57	5	580	5	NUDT21	16	56481891	Missense_Mutation	SNP	T	TCGA-HD-7917-01A-11D-2229-08	8758908	56481891	33872862	94	83103											
CLEC18B	497190	broad.mit.edu	37	chr16	74447539	74447539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcagagcacaggtgccgCccacagcccagctggcttga	8	5	12	16	1	0	2	0	1	0	1	0	2	0	2	4	2	5	4	4	2	0	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:74447539C>T	ENST00000339953.5	-	4	613	c.492G>A	c.(490-492)ggG>ggA	p.G164G		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	164	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACAGGTGCCGCCCACAGCCCA	0.612													4	194					0	0	0	0	T	74447539	C	T	74447539	2	4	419	1	0	0	0	0	0	0	0	1	3533	726	26	4		4	CLEC18B	16	74447539	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	17965648	74447539	15907214	95	83104											
C17orf85	55421	broad.mit.edu	37	chr17	3719527	3719527	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaccaattcggtttttgaTattgcttgaagatacactat	11	17	7	6	1	0	3	0	2	0	1	1	3	0	3	1	1	3	3	1	1	6	9			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:3719527T>A	ENST00000158149.3	-	12	1403	c.508A>T	c.(508-510)Atc>Ttc	p.I170F	C17orf85_ENST00000389005.4_Missense_Mutation_p.I450F			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	450							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CGGTTTTTGATATTGCTTGAA	0.448													6	23					0	0	0	0	A	3719527	T	A	3719527	3	1	419	1	0	0	0	0	1	0	0	0	1904	1406	49	5	526	5	C17orf85	17	3719527	Missense_Mutation	SNP	T	TCGA-HD-7917-01A-11D-2229-08		3719527	77475683	96	83105											
TP53	7157	broad.mit.edu	37	chr17	7574034	7574034	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgctcacgcccacggatCtgcagcaacagaggaggggg	11	3	15	12	3	2	1	1	0	1	1	2	3	2	3	1	4	4	3	1	4	2	0			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:7574034C>A	ENST00000420246.2	-	11	1259		c.e11-1		TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(9)|p.0?(8)|p.I332fs*49(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)		GCCCACGGATCTGCAGCAACA	0.512		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)			3	11					0.115264	0.117554	1	0	A	7574034	C	A	7574034	5	1	419	1	0	0	0	0	0	0	1	0	16476	927	32	2	196	2	TP53	17	7574034	Splice_Site	SNP	C	TCGA-HD-7917-01A-11D-2229-08	3854507	7574034	73621176	97	83106											
TP53	7157	broad.mit.edu	37	chr17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttctgtcatccaaatactCcacacgcaaatttccttcca	11	13	3	14	1	2	0	1	0	1	0	6	0	6	0	4	0	1	2	4	0	3	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:7578239C>A	ENST00000420246.2	-	6	742	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.E204*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	204	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)		TCCAAATACTCCACACGCAAA	0.542		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)			8	48					0.00621372	0.00646562	1	0	A	7578239	C	A	7578239	4	1	419	1	0	0	0	0	0	1	0	0	16476	864	30	2	684	2	TP53	17	7578239	Nonsense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	4205	7578239	73616971	98	83107											
DNAH9	1770	broad.mit.edu	37	chr17	11597639	11597639	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgttctgtgccctcagaTtgtgcctgtgtgagaaggcc	6	13	12	10	0	2	2	1	1	1	2	2	3	2	2	3	1	2	1	3	1	2	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:11597639T>A	ENST00000262442.3	+	22	4815	c.4745_splice	c.e22-1	p.L1583_splice	DNAH9_ENST00000454412.2_Splice_Site_p.L1583_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1583	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCCTCAGATTGTGCCTGTG	0.453													3	43					0	0	0	0	A	11597639	T	A	11597639	5	1	419	1	0	0	0	0	0	0	1	0	4644	1507	52	5	4833	5	DNAH9	17	11597639	Splice_Site	SNP	T	TCGA-HD-7917-01A-11D-2229-08	4019400	11597639	69597571	99	83108											
EPX	8288	broad.mit.edu	37	chr17	56274399	56274399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaacagagtccgcaacCagatcaacgcgctcacctcc	14	4	7	16	3	2	3	2	0	0	3	4	3	4	3	4	0	3	2	4	0	4	0			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:56274399C>A	ENST00000225371.5	+	7	1011	c.901C>A	c.(901-903)Cag>Aag	p.Q301K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	301					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AGTCCGCAACCAGATCAACGC	0.602													47	81					6.87076e-12	7.89625e-12	1	0	A	56274399	C	A	56274399	3	1	419	1	0	0	0	0	1	0	0	0	5238	595	21	4	927	4	EPX	17	56274399	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	44676760	56274399	24920811	100	83109											
USP32	84669	broad.mit.edu	37	chr17	58262997	58262997	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactctgctccacactctCatgctcatctacaacctgca	9	10	4	18	1	4	0	2	0	3	0	6	1	5	0	3	0	5	3	3	0	2	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:58262997C>A	ENST00000300896.4	-	30	3852	c.3658G>T	c.(3658-3660)Gag>Tag	p.E1220*	USP32_ENST00000592339.1_Nonsense_Mutation_p.E890*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1220					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCCACACTCTCATGCTCATCT	0.537													8	54					0.00307968	0.00322633	1	0	A	58262997	C	A	58262997	4	1	419	1	0	0	0	0	0	1	0	0	17159	835	29	2	1176	2	USP32	17	58262997	Nonsense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	1988598	58262997	22932213	101	83110											
ACE	1636	broad.mit.edu	37	chr17	61574511	61574511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctcagctcgctcagaaggGcccctcccagacagcggccg	7	4	12	18	4	2	2	2	0	0	2	4	2	3	2	4	2	2	3	4	2	1	0			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:61574511G>A	ENST00000290866.4	+	25	3729	c.3705G>A	c.(3703-3705)ggG>ggA	p.G1235G	ACE_ENST00000577647.1_Intron|ACE_ENST00000490216.2_Intron|ACE_ENST00000421982.2_Silent_p.G440G|ACE_ENST00000290863.6_Silent_p.G661G|ACE_ENST00000413513.3_Silent_p.G620G|ACE_ENST00000428043.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1235					arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTCAGAAGGGCCCCTCCCAG	0.721													7	11					0	0	0	0	A	61574511	G	A	61574511	2	1	419	1	0	0	0	0	0	0	0	1	136	1190	42	4		4	ACE	17	61574511	Silent	SNP	G	TCGA-HD-7917-01A-11D-2229-08	3311514	61574511	19620699	102	83111											
ABCA6	23460	broad.mit.edu	37	chr17	67080490	67080490	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccaggaggctcagcacaaAacacaactgcaatgtagaaa	17	5	8	11	0	1	1	1	0	0	1	2	2	2	2	1	2	4	4	1	2	6	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:67080490A>T	ENST00000284425.2	-	34	4441	c.4267T>A	c.(4267-4269)Ttt>Att	p.F1423I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1423	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTCAGCACAAAACACAACTGC	0.517													54	106					0	0	0	0	T	67080490	A	T	67080490	3	4	419	1	0	0	0	0	1	0	0	0	36	14	1	5	610	5	ABCA6	17	67080490	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	5505979	67080490	14114720	103	83112											
DLGAP1	9229	broad.mit.edu	37	chr18	3534609	3534609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggatcgagtgaacctgcGgaagcttgggagaatagaaa	13	8	15	5	2	0	3	0	1	0	2	1	7	0	5	1	3	3	2	1	3	5	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr18:3534609G>C	ENST00000315677.3	-	10	2657	c.2062C>G	c.(2062-2064)Cgc>Ggc	p.R688G	DLGAP1_ENST00000400155.1_Missense_Mutation_p.R394G|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R404G|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R386G|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R394G|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R688G|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R372G|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R688G|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R386G|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R378G|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R688G|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R396G	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	688					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTGAACCTGCGGAAGCTTGGG	0.388													11	33					0	0	0	0	C	3534609	G	C	3534609	3	2	419	1	0	0	0	0	1	0	0	0	4596	1116	39	3	887	3	DLGAP1	18	3534609	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		3534609	74542639	104	83113											
ANKRD12	23253	broad.mit.edu	37	chr18	9204486	9204486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctgtagattcagatccagGacatacaagtgaaaattggg	14	11	10	6	0	2	3	1	1	1	2	3	4	3	4	1	2	1	1	1	2	5	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr18:9204486G>A	ENST00000262126.3	+	4	488	c.248G>A	c.(247-249)gGa>gAa	p.G83E	ANKRD12_ENST00000400020.3_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	83						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCAGATCCAGGACATACAAGT	0.398													3	38					0	0	0	0	A	9204486	G	A	9204486	3	1	419	1	0	0	0	0	1	0	0	0	640	1174	41	2	258	2	ANKRD12	18	9204486	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	5669877	9204486	68872762	105	83114			1	121		2	2	19	G		6.802816e-05
ANKRD12	23253	broad.mit.edu	37	chr18	9204504	9204504	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacatacaagtgaaaattGgggggagagacttatatctt	15	10	12	4	0	1	2	0	1	1	1	1	5	1	4	0	4	1	0	0	4	6	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr18:9204504G>A	ENST00000262126.3	+	4	506	c.266G>A	c.(265-267)tGg>tAg	p.W89*	ANKRD12_ENST00000400020.3_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	89						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGTGAAAATTGGGGGGAGAGA	0.383													3	37					0	0	0	0	A	9204504	G	A	9204504	4	1	419	1	0	0	0	0	0	1	0	0	640	1357	47	4	276	4	ANKRD12	18	9204504	Nonsense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	18	9204504	68872744	106	83115			1	121		2	2	19	G		6.802816e-05
STARD6	147323	broad.mit.edu	37	chr18	51855808	51855808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctggaaaatccacactttTagctaagagattttaaaaaa	17	13	5	6	0	1	1	0	0	1	1	2	3	2	2	1	1	1	1	1	1	7	6			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr18:51855808T>C	ENST00000581310.1	-	8	761	c.388A>G	c.(388-390)Aaa>Gaa	p.K130E	STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Missense_Mutation_p.K130E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	130	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TCCACACTTTTAGCTAAGAGA	0.313													40	44					0	0	0	0	C	51855808	T	C	51855808	3	2	419	1	0	0	0	0	1	0	0	0	15351	1763	61	5	281	5	STARD6	18	51855808	Missense_Mutation	SNP	T	TCGA-HD-7917-01A-11D-2229-08	42651304	51855808	26221440	107	83116											
ANGPTL6	83854	broad.mit.edu	37	chr19	10205476	10205476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtgacctgcaggcatggGagaagccatgggctcctgct	8	7	16	10	0	0	2	0	1	0	1	1	3	1	2	3	4	3	4	3	4	1	0			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:10205476G>A	ENST00000253109.4	-	3	959	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.P241S|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.P241S	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	241					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GCAGGCATGGGAGAAGCCATG	0.587													32	66					0	0	0	0	A	10205476	G	A	10205476	3	1	419	1	0	0	0	0	1	0	0	0	618	1174	41	2	707	2	ANGPTL6	19	10205476	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		10205476	48923507	108	83117											
SLC44A2	57153	broad.mit.edu	37	chr19	10745693	10745693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcattatcatcttgctgctCatctttctccggaagagaat	9	15	7	10	1	6	1	3	0	3	1	7	3	6	2	1	1	2	2	1	1	3	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:10745693C>T	ENST00000586078.1	+	12	1108	c.999C>T	c.(997-999)ctC>ctT	p.L333L	SLC44A2_ENST00000407327.4_Silent_p.L331L|SLC44A2_ENST00000335757.5_Silent_p.L333L	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	333					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTTGCTGCTCATCTTTCTCC	0.557													45	170					0	0	0	0	T	10745693	C	T	10745693	2	4	419	1	0	0	0	0	0	0	0	1	14724	813	29	2		2	SLC44A2	19	10745693	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	540217	10745693	48383290	109	83118											
ZNF714	148206	broad.mit.edu	37	chr19	21281095	21281095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaatgtgatgttagagaaCtacaaaaacctggtcttctt	14	13	8	6	0	2	3	0	2	2	1	2	4	2	3	1	1	3	1	1	1	6	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:21281095C>T	ENST00000596143.1	+	3	346	c.21C>T	c.(19-21)aaC>aaT	p.N7N	ZNF714_ENST00000291770.7_Silent_p.N7N|ZNF714_ENST00000596053.1_Silent_p.N7N|ZNF714_ENST00000601416.1_Silent_p.N7N	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	7	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TGTTAGAGAACTACAAAAACC	0.363													11	75					0	0	0	0	T	21281095	C	T	21281095	2	4	419	1	0	0	0	0	0	0	0	1	18213	564	20	4		4	ZNF714	19	21281095	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	10535402	21281095	37847888	110	83119											
PSG8	440533	broad.mit.edu	37	chr19	43268218	43268218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctcgtccactgtatgCaggcccatatataattattt	9	17	6	9	1	1	0	0	0	1	0	3	0	2	0	2	1	1	3	2	1	5	7			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:43268218C>T	ENST00000404209.4	-	2	376	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG8_ENST00000401467.2_Missense_Mutation_p.A94T|PSG8_ENST00000306511.4_Missense_Mutation_p.A94T|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	94	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCACTGTATGCAGGCCCATAT	0.428													5	390					0	0	0	0	T	43268218	C	T	43268218	3	4	419	1	0	0	0	0	1	0	0	0	12740	710	25	4	1037	4	PSG8	19	43268218	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	21987123	43268218	15860765	111	83120											
ZNF331	55422	broad.mit.edu	37	chr19	54079994	54079994	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagtttacctacagaaaaAaacattcatgaaataagggc	20	8	7	6	0	1	3	1	1	0	2	1	3	1	3	1	1	3	1	1	1	8	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:54079994A>T	ENST00000253144.9	+	7	1513	c.180A>T	c.(178-180)aaA>aaT	p.K60N	ZNF331_ENST00000511593.2_Missense_Mutation_p.K60N|ZNF331_ENST00000411977.2_Missense_Mutation_p.K60N|ZNF331_ENST00000513265.1_Missense_Mutation_p.K60N|ZNF331_ENST00000511154.1_Missense_Mutation_p.K60N|ZNF331_ENST00000449416.1_Missense_Mutation_p.K60N|ZNF331_ENST00000513999.1_Missense_Mutation_p.K60N|ZNF331_ENST00000512387.1_Missense_Mutation_p.K60N	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTACAGAAAAAAACATTCATG	0.373			T	?	follicular thyroid adenoma								17	20					0	0	0	0	T	54079994	A	T	54079994	3	4	419	1	0	0	0	0	1	0	0	0	17944	11	1	5	190	5	ZNF331	19	54079994	Missense_Mutation	SNP	A	TCGA-HD-7917-01A-11D-2229-08	10811776	54079994	5048989	112	83121											
NLRP5	126206	broad.mit.edu	37	chr19	56539108	56539108	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctcacaggcctgcacgcCgcttttgtgtttcatcagct	6	12	9	14	3	3	0	3	0	0	0	3	0	3	0	2	1	2	5	2	1	0	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:56539108C>T	ENST00000390649.3	+	7	1509	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	503	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCTGCACGCCGCTTTTGTGT	0.632													10	14					0	0	0	0	T	56539108	C	T	56539108	2	4	419	1	0	0	0	0	0	0	0	1	10550	639	23	1		1	NLRP5	19	56539108	Silent	SNP	C	TCGA-HD-7917-01A-11D-2229-08	2459114	56539108	2589875	113	83122											
ZNF154	7710	broad.mit.edu	37	chr19	58214011	58214011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttgatggagaaatccCaacttggccaggaagtcctt	10	10	11	10	0	0	2	0	1	0	1	2	4	2	3	4	3	1	1	4	3	3	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:58214011C>A	ENST00000512439.2	-	3	502	c.306G>T	c.(304-306)ttG>ttT	p.L102F	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.L102F			Q13106	ZN154_HUMAN	zinc finger protein 154	102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGAAATCCCAACTTGGCCA	0.517													5	68					0.000602214	0.000639593	1	0	A	58214011	C	A	58214011	3	1	419	1	0	0	0	0	1	0	0	0	17830	593	21	4	1011	4	ZNF154	19	58214011	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08	1674903	58214011	914972	114	83123											
NRIP1	8204	broad.mit.edu	37	chr21	16337575	16337575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtacatcagtccatttaaaGaagaaatgctaaattcaggt	16	12	7	6	0	2	2	2	0	0	2	3	2	3	2	1	1	2	2	1	1	7	5			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr21:16337575G>C	ENST00000400202.1	-	3	3651	c.2939C>G	c.(2938-2940)tCt>tGt	p.S980C	NRIP1_ENST00000318948.4_Missense_Mutation_p.S980C|NRIP1_ENST00000400199.1_Missense_Mutation_p.S980C			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	980					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCCATTTAAAGAAGAAATGCT	0.418													4	55					0	0	0	0	C	16337575	G	C	16337575	3	2	419	1	0	0	0	0	1	0	0	0	10723	942	33	2	541	2	NRIP1	21	16337575	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08		16337575	31792320	115	83124											
ADARB1	104	broad.mit.edu	37	chr21	46596376	46596376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagtatgacttcctctccGagagcggggagagccatgcc	9	8	12	12	2	2	3	1	1	1	2	4	5	3	3	4	2	3	1	4	2	2	2			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr21:46596376G>A	ENST00000539173.1	+	4	1195	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ADARB1_ENST00000360697.3_Missense_Mutation_p.E254K|ADARB1_ENST00000389863.4_Missense_Mutation_p.E254K|ADARB1_ENST00000348831.4_Missense_Mutation_p.E254K|ADARB1_ENST00000437626.1_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	254	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTTCCTCTCCGAGAGCGGGGA	0.562													5	69					0	0	0	0	A	46596376	G	A	46596376	3	1	419	1	0	0	0	0	1	0	0	0	282	1059	37	1	766	1	ADARB1	21	46596376	Missense_Mutation	SNP	G	TCGA-HD-7917-01A-11D-2229-08	30258801	46596376	1533519	116	83125											
CACNA1I	8911	broad.mit.edu	37	chr22	40061966	40061966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggactgcatggccgccaaCtaccgctgggtccatcacaa	9	7	10	15	3	1	0	1	0	0	0	3	1	2	1	4	3	3	2	4	3	3	1			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr22:40061966C>G	ENST00000336649.4	+	26	4077	c.4077C>G	c.(4075-4077)aaC>aaG	p.N1359K	CACNA1I_ENST00000407673.1_Missense_Mutation_p.N1318K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.N1353K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.N1318K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.N1353K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.N1318K			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1353					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGCCGCCAACTACCGCTGGG	0.597													3	61					0	0	0	0	G	40061966	C	G	40061966	3	3	419	1	0	0	0	0	1	0	0	0	2571	564	20	4	4149	4	CACNA1I	22	40061966	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08		40061966	11242600	117	83126											
MAGT1	84061	broad.mit.edu	37	chrX	77131009	77131009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtggggctttcacaaggCgacggaacttgtctccattc	7	11	12	11	3	2	0	1	0	1	0	5	2	2	1	1	5	1	1	1	5	2	3			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chrX:77131009C>T	ENST00000358075.6	-	2	370	c.284G>A	c.(283-285)cGc>cAc	p.R95H	MAGT1_ENST00000373336.3_Missense_Mutation_p.R63H	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418													20	93					0	0	0	0	T	77131009	C	T	77131009	3	4	419	1	0	0	0	0	1	0	0	0	9265	768	27	1	855	1	MAGT1	23	77131009	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08		77131009	78139551	118	83127											
ZFY	7544	broad.mit.edu	37	chrY	2829238	2829238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcctgatgacccagactCagttgtaatccaagatgttg	10	13	9	9	0	1	4	1	2	0	2	3	4	3	4	3	0	0	4	3	0	2	4			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chrY:2829238C>T	ENST00000155093.3	+	3	506	c.185C>T	c.(184-186)tCa>tTa	p.S62L	ZFY_ENST00000449237.1_Missense_Mutation_p.S36L|ZFY_ENST00000383052.1_Missense_Mutation_p.S62L|ZFY_ENST00000431102.1_Intron	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GACCCAGACTCAGTTGTAATC	0.373													19	39					0	0	0	0	T	2829238	C	T	2829238	3	4	419	1	0	0	0	0	1	0	0	0	17757	838	29	2	191	2	ZFY	24	2829238	Missense_Mutation	SNP	C	TCGA-HD-7917-01A-11D-2229-08		2829238	56544328	119	83128											
CHD5	26038	broad.mit.edu	37	chr1	6195309	6195309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctgcatctggctcagctCcacccggacaatgagctcgg	7	9	10	15	2	3	1	1	1	2	0	5	2	4	2	2	3	3	4	2	3	1	1			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:6195309C>T	ENST00000262450.3	-	18	2950	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	951					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCAGCTCCACCCGGACA	0.632													10	89					0	0	0	0	T	6195309	C	T	6195309	3	4	420	1	0	0	0	0	1	0	0	0	3357	864	30	2	3109	2	CHD5	1	6195309	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08		6195309	243055312	1	83129											
CLCNKA	1187	broad.mit.edu	37	chr1	16358300	16358300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtggtcaaggttgtgacctCcacagacgtgaccgagtatc	9	9	13	10	2	1	3	1	2	0	1	3	4	2	3	3	3	0	2	3	3	2	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:16358300C>G	ENST00000375692.1	+	17	1846	c.1718C>G	c.(1717-1719)tCc>tGc	p.S573C	CLCNKA_ENST00000420078.1_Missense_Mutation_p.S573C|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S573C|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S530C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	573	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTTGTGACCTCCACAGACGTG	0.607													5	79					0	0	0	0	G	16358300	C	G	16358300	3	3	420	1	0	0	0	0	1	0	0	0	3499	855	30	2	1776	2	CLCNKA	1	16358300	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	10162991	16358300	232892321	2	83130											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809380	18809380	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacggtgcgtgccaaggaAatcttcgtcaccggcggctc	7	7	13	14	5	2	0	1	0	1	0	4	1	2	1	3	4	2	1	3	4	2	1			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:18809380A>C	ENST00000400664.1	+	1	1957	c.1905A>C	c.(1903-1905)gaA>gaC	p.E635D		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCCAAGGAAATCTTCGTCA	0.706													7	34					0	0	0	0	C	18809380	A	C	18809380	3	2	420	1	0	0	0	0	1	0	0	0	8412	11	1	5	1907	5	KLHDC7A	1	18809380	Missense_Mutation	SNP	A	TCGA-HD-8224-01A-11D-2394-08	2451080	18809380	230441241	3	83131											
KANK4	163782	broad.mit.edu	37	chr1	62739445	62739445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctcctcggtgcccccagCtttcagactccatgctgcct	4	11	7	19	1	2	1	1	0	1	1	5	1	3	1	6	1	4	2	6	1	0	1			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:62739445C>G	ENST00000371153.4	-	3	1709	c.1331G>C	c.(1330-1332)aGc>aCc	p.S444T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	444										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGCCCCCAGCTTTCAGACTC	0.557													82	172					0	0	0	0	G	62739445	C	G	62739445	3	3	420	1	0	0	0	0	1	0	0	0	8032	797	28	4	1688	4	KANK4	1	62739445	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	43930065	62739445	186511176	4	83132											
LEPR	3953	broad.mit.edu	37	chr1	66075955	66075956	+	Frame_Shift_Ins	INS	-	-	A																															gagatactatgaaaaaggagINSaaaaatgtcactttactttg																										TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:66075955_66075956insA	ENST00000349533.6	+	14	2156_2157	c.1971_1972insA	c.(1969-1974)gaaaaafs	p.EK657fs	LEPR_ENST00000371060.3_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000344610.8_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000371059.3_Frame_Shift_Ins_p.EK657fs	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	657	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGAAAAAGGAGAAAAATGTCAC	0.277													10	34	---	---	---	---					A	66075956	-	A	66075955	7	5	420	1	0	1	1	0	0	0	0	0	8781	933	33	0	2017	0	LEPR	1	66075955	Frame_Shift_Ins	INS	-	TCGA-HD-8224-01A-11D-2394-08	3336510	66075955	183174666	5	83133											
BRDT	676	broad.mit.edu	37	chr1	92445292	92445292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgagcgagttaagcGtcttgcaaagcttcaggagc	12	9	13	7	2	2	3	1	2	1	1	2	5	2	4	0	1	5	3	0	1	3	3	rs140481537		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:92445292G>A	ENST00000370389.2	+	8	1970	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	BRDT_ENST00000402388.1_Missense_Mutation_p.R422H|BRDT_ENST00000362005.3_Missense_Mutation_p.R422H|BRDT_ENST00000394530.3_Missense_Mutation_p.R376H|BRDT_ENST00000399546.2_Missense_Mutation_p.R422H	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	422	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CGAGTTAAGCGTCTTGCAAAG	0.373													22	90					0	0	0	0	A	92445292	G	A	92445292	3	1	420	1	0	0	0	0	1	0	0	0	1516	1145	40	1	1291	1	BRDT	1	92445292	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	26369337	92445292	156805329	6	83134											
GSTM5	2949	broad.mit.edu	37	chr1	110256075	110256075	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggggagcctggtggcccaActgagcttccccggtttccc	4	9	13	15	1	0	1	0	1	0	0	2	2	2	2	5	5	3	2	5	5	1	2	rs2479390	by1000genomes	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:110256075A>G	ENST00000369813.1	+	2	929	c.24A>G	c.(22-24)caA>caG	p.Q8Q	GSTM5_ENST00000369812.5_Silent_p.Q68Q|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGGTGGCCCAACTGAGCTTCC	0.572													6	149					0	0	0	0	G	110256075	A	G	110256075	2	3	420	1	0	0	0	0	0	0	0	1	6891	58	2	5		5	GSTM5	1	110256075	Silent	SNP	A	TCGA-HD-8224-01A-11D-2394-08	17810783	110256075	138994546	7	83135											
HRNR	388697	broad.mit.edu	37	chr1	152187893	152187893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccttgacccagacccaCgctggccgtggcctggagac	7	6	12	16	2	0	3	0	1	0	2	0	4	0	3	5	3	1	1	5	3	0	1	rs147850915	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:152187893C>T	ENST00000368801.2	-	3	6287	c.6212G>A	c.(6211-6213)cGt>cAt	p.R2071H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2071					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGACCCACGCTGGCCGTG	0.632													82	240					0	0	0	0	T	152187893	C	T	152187893	3	4	420	1	0	0	0	0	1	0	0	0	7409	536	19	1	2344	1	HRNR	1	152187893	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	41931818	152187893	97062728	8	83136											
DCST2	127579	broad.mit.edu	37	chr1	154991185	154991185	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatgggcttcaggtaaGggctgctgcccgtgcttcct	4	11	15	11	1	1	1	1	1	0	0	2	1	2	1	2	4	3	6	2	4	1	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:154991185G>C	ENST00000368424.3	-	15	2215	c.2157C>G	c.(2155-2157)ccC>ccG	p.P719P		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	719	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTCAGGTAAGGGCTGCTGCC	0.607													20	52					0	0	0	0	C	154991185	G	C	154991185	2	2	420	1	0	0	0	0	0	0	0	1	4335	987	35	4		4	DCST2	1	154991185	Silent	SNP	G	TCGA-HD-8224-01A-11D-2394-08	2803292	154991185	94259436	9	83137											
MPZL1	9019	broad.mit.edu	37	chr1	167757148	167757148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggtgtatgcggatatccGaaagaattaagagaatacct	14	11	11	5	2	0	2	0	0	0	2	1	5	1	3	2	2	2	1	2	2	7	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:167757148G>A	ENST00000359523.2	+	6	1002	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	MPZL1_ENST00000392121.3_Missense_Mutation_p.R117Q|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	267					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCGGATATCCGAAAGAATTAA	0.448													5	94					0	0	0	0	A	167757148	G	A	167757148	3	1	420	1	0	0	0	0	1	0	0	0	9819	1058	37	1	822	1	MPZL1	1	167757148	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	12765963	167757148	81493473	10	83138											
HMCN1	83872	broad.mit.edu	37	chr1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacggagggcagatgcggcGgtaccgcacatgtgataacc	11	6	14	10	4	0	2	0	1	0	1	0	3	0	3	2	4	4	3	2	4	3	3	rs111360184		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:186114607G>A	ENST00000271588.4	+	92	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557													5	95					0	0	0	0	A	186114607	G	A	186114607	3	1	420	1	0	0	0	0	1	0	0	0	7270	1116	39	1	14705	1	HMCN1	1	186114607	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	18357459	186114607	63136014	11	83139											
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	14	8	12	7	0	2	3	0	1	2	2	3	6	3	5	2	3	2	0	2	3	5	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398													4	37					0	0	0	0	A	96260870	G	A	96260870	3	1	420	1	0	0	0	0	1	0	0	0	16613	1233	43	4	490	4	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08		96260870	146938503	12	83140											
GLI2	2736	broad.mit.edu	37	chr2	121747782	121747782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcggtgcctccccagcCgcctccgcaggacgcaggtg	4	5	16	16	4	0	0	0	0	0	0	3	1	2	1	6	5	2	2	6	5	0	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:121747782C>T	ENST00000452319.1	+	14	4352	c.4292C>T	c.(4291-4293)cCg>cTg	p.P1431L	GLI2_ENST00000361492.4_Missense_Mutation_p.P1431L|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1431					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCCCAGCCGCCTCCGCAG	0.652													52	52					0	0	0	0	T	121747782	C	T	121747782	3	4	420	1	0	0	0	0	1	0	0	0	6489	652	23	1	4342	1	GLI2	2	121747782	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	25486912	121747782	121451591	13	83141											
RIF1	55183	broad.mit.edu	37	chr2	152322482	152322482	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctcctcaaaaactaaggGaacttgatccttcacttgtg	12	12	6	11	0	3	1	2	1	1	0	5	2	4	2	2	1	2	0	2	1	4	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:152322482G>T	ENST00000243326.4	+	29	6931	c.6448G>T	c.(6448-6450)Gaa>Taa	p.E2150*	RIF1_ENST00000428287.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E2150*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2150	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAACTAAGGGAACTTGATCC	0.443													16	74					9.16793e-09	1.01764e-08	1	0	T	152322482	G	T	152322482	4	4	420	1	0	0	0	0	0	1	0	0	13442	1175	41	2	6562	2	RIF1	2	152322482	Nonsense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	30574700	152322482	90876891	14	83142											
IDH1	3417	broad.mit.edu	37	chr2	209104649	209104649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtagtgacgggttacagtcCcgtgggcagcctctgcttct	5	11	14	11	2	2	1	0	1	2	0	3	1	3	1	2	3	3	4	2	3	2	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:209104649C>A	ENST00000415913.1	-	8	1310	c.929G>T	c.(928-930)gGg>gTg	p.G310V	IDH1_ENST00000446179.1_Missense_Mutation_p.G310V|IDH1_ENST00000345146.2_Missense_Mutation_p.G310V			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	310					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GGTTACAGTCCCGTGGGCAGC	0.517			Mis		gliobastoma								42	124					1.22674e-20	1.4038e-20	1	0	A	209104649	C	A	209104649	3	1	420	1	0	0	0	0	1	0	0	0	7547	623	22	4	327	4	IDH1	2	209104649	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	56782167	209104649	34094724	15	83143											
CPS1	1373	broad.mit.edu	37	chr2	211539661	211539661	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattccttggtgtggctgaAcaattacacaatgaaggttt	12	13	10	6	0	0	3	0	2	0	1	1	3	1	3	1	3	2	2	1	3	5	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:211539661A>G	ENST00000233072.5	+	35	4333	c.4137A>G	c.(4135-4137)gaA>gaG	p.E1379E	CPS1_ENST00000451903.2_Silent_p.E928E|CPS1_ENST00000430249.2_Silent_p.E1385E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1379					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			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)		GTGTGGCTGAACAATTACACA	0.343													26	85					0	0	0	0	G	211539661	A	G	211539661	2	3	420	1	0	0	0	0	0	0	0	1	3853	40	2	5		5	CPS1	2	211539661	Silent	SNP	A	TCGA-HD-8224-01A-11D-2394-08	2435012	211539661	31659712	16	83144											
GPR35	2859	broad.mit.edu	37	chr2	241570087	241570087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtggggctgacagtgCgcctcgcagtgggctggaac	6	7	17	11	3	0	1	0	1	0	0	1	2	0	2	1	4	3	4	1	4	1	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:241570087C>T	ENST00000319838.5	+	6	1660	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	GPR35_ENST00000438013.2_Missense_Mutation_p.R271C|GPR35_ENST00000407714.1_Missense_Mutation_p.R240C|GPR35_ENST00000403859.1_Missense_Mutation_p.R240C|GPR35_ENST00000430267.1_Missense_Mutation_p.R240C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	240						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCTGACAGTGCGCCTCGCAGT	0.667													4	65					0	0	0	0	T	241570087	C	T	241570087	3	4	420	1	0	0	0	0	1	0	0	0	6739	768	27	1	720	1	GPR35	2	241570087	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	30030426	241570087	1629286	17	83145											
PBRM1	55193	broad.mit.edu	37	chr3	52597491	52597491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaaggtgatggctccttCtgaggaacaattggttttct	10	13	11	7	0	2	2	0	2	2	0	3	3	3	3	1	4	2	3	1	4	3	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:52597491C>T	ENST00000356770.4	-	23	3800	c.3798G>A	c.(3796-3798)caG>caA	p.Q1266Q	PBRM1_ENST00000394830.3_Silent_p.Q1273Q|PBRM1_ENST00000409767.1_Silent_p.Q1313Q|PBRM1_ENST00000337303.4_Silent_p.Q1298Q|PBRM1_ENST00000296302.7_Silent_p.Q1298Q|PBRM1_ENST00000409114.3_Silent_p.Q1313Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Silent_p.Q1298Q|PBRM1_ENST00000410007.1_Silent_p.Q1273Q			Q86U86	PB1_HUMAN	polybromo 1	1298	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGGCTCCTTCTGAGGAACAA	0.413			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								5	87					0	0	0	0	T	52597491	C	T	52597491	2	4	420	1	0	0	0	0	0	0	0	1	11562	912	32	2		2	PBRM1	3	52597491	Silent	SNP	C	TCGA-HD-8224-01A-11D-2394-08		52597491	145424939	18	83146											
DCP1A	55802	broad.mit.edu	37	chr3	53322224	53322224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgaagatcttgtaactgtCtgctggaaaacacttggggc	10	11	11	9	1	2	1	0	0	2	1	3	3	3	2	1	3	3	2	1	3	4	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:53322224C>T	ENST00000607628.1	-	9	1642	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	DCP1A_ENST00000294241.6_Silent_p.Q509Q|DCP1A_ENST00000606822.1_Silent_p.Q473Q|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TTGTAACTGTCTGCTGGAAAA	0.507													10	37					0	0	0	0	T	53322224	C	T	53322224	2	4	420	1	0	0	0	0	0	0	0	1	4330	912	32	2		2	DCP1A	3	53322224	Silent	SNP	C	TCGA-HD-8224-01A-11D-2394-08	724733	53322224	144700206	19	83147											
DCBLD2	131566	broad.mit.edu	37	chr3	98538045	98538045	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaaatttttgtctcttaaCctgttattttcttttcctta	9	22	3	7	0	2	1	0	0	2	1	4	1	3	1	2	0	1	1	2	0	5	9			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:98538045C>T	ENST00000326840.6	-	8	1450		c.e8+1		DCBLD2_ENST00000326857.9_Splice_Site	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2						cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TGTCTCTTAACCTGTTATTTT	0.318													3	6					0	0	0	0	T	98538045	C	T	98538045	5	4	420	1	0	0	0	0	0	0	1	0	4313	521	18	4	1275	4	DCBLD2	3	98538045	Splice_Site	SNP	C	TCGA-HD-8224-01A-11D-2394-08	45215821	98538045	99484385	20	83148											
KIAA2018	205717	broad.mit.edu	37	chr3	113375895	113375895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttggatcgggattggtcaGttccatggtgctttggttgt	4	17	14	6	1	2	0	1	0	1	0	4	2	3	2	1	5	1	3	1	5	0	5			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:113375895G>C	ENST00000316407.4	-	7	5044	c.4634C>G	c.(4633-4635)aCt>aGt	p.T1545S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.T1545S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1545	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGATTGGTCAGTTCCATGGTG	0.512													24	87					0	0	0	0	C	113375895	G	C	113375895	3	2	420	1	0	0	0	0	1	0	0	0	8319	1029	36	4	2107	4	KIAA2018	3	113375895	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	14837850	113375895	84646535	21	83149											
C3orf30	152405	broad.mit.edu	37	chr3	118865485	118865485	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacagactgaacgaagatTacctacccaggctgagagaa	16	6	10	9	1	0	6	0	3	0	3	0	8	0	6	2	1	4	1	2	1	6	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:118865485T>A	ENST00000295622.1	+	1	489	c.449T>A	c.(448-450)tTa>tAa	p.L150*		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	150										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GAACGAAGATTACCTACCCAG	0.498													20	77					0	0	0	0	A	118865485	T	A	118865485	4	1	420	1	0	0	0	0	0	1	0	0	2240	1764	61	5	451	5	C3orf30	3	118865485	Nonsense_Mutation	SNP	T	TCGA-HD-8224-01A-11D-2394-08	5489590	118865485	79156945	22	83150											
CASR	846	broad.mit.edu	37	chr3	121973097	121973097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcacacctctgcctacGggccagaccagcgagcccaa	9	4	10	18	2	1	1	0	0	1	1	1	2	1	1	6	2	4	1	6	2	2	1			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:121973097G>A	ENST00000498619.1	+	2	499	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	CASR_ENST00000490131.1_Missense_Mutation_p.G21R|CASR_ENST00000296154.5_Missense_Mutation_p.G21R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	21			G -> R (could be associated with FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCTGCCTACGGGCCAGACCA	0.527													76	179					0	0	0	0	A	121973097	G	A	121973097	3	1	420	1	0	0	0	0	1	0	0	0	2707	1116	39	1	63	1	CASR	3	121973097	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	3107612	121973097	76049333	23	83151											
LEPREL1	55214	broad.mit.edu	37	chr3	189702338	189702338	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcattctgaatggacttaCcgattctcatcctgtcgtcc	7	15	7	12	2	2	1	1	1	2	0	6	3	4	2	3	1	2	1	3	1	2	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:189702338C>T	ENST00000319332.5	-	7	1427		c.e7+1		LEPREL1_ENST00000427335.2_Splice_Site	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1						collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AATGGACTTACCGATTCTCAT	0.338													30	117					0	0	0	0	T	189702338	C	T	189702338	5	4	420	1	0	0	0	0	0	0	1	0	8783	521	18	4	932	4	LEPREL1	3	189702338	Splice_Site	SNP	C	TCGA-HD-8224-01A-11D-2394-08	67729241	189702338	8320092	24	83152											
MUC4	4585	broad.mit.edu	37	chr3	195515925	195515925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaattcggttgttgaCtgggttgtgtgactgtccct	6	14	13	8	1	0	2	0	2	0	0	2	3	1	2	1	2	1	4	1	2	1	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:195515925C>T	ENST00000463781.3	-	2	2985	c.2526G>A	c.(2524-2526)caG>caA	p.Q842Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.Q842Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	847	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTTGTTGACTGGGTTGTGT	0.562													22	91					0	0	0	0	T	195515925	C	T	195515925	2	4	420	1	0	0	0	0	0	0	0	1	10048	564	20	4		4	MUC4	3	195515925	Silent	SNP	C	TCGA-HD-8224-01A-11D-2394-08	5813587	195515925	2506505	25	83153											
DGKQ	1609	broad.mit.edu	37	chr4	955594	955594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgatcttctgcagccccaCccgcacgtacacacccttgt	8	9	6	18	2	2	1	0	1	2	0	2	1	2	1	4	0	3	3	4	0	1	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:955594C>G	ENST00000273814.3	-	20	2417	c.2344G>C	c.(2344-2346)Gtg>Ctg	p.V782L		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	782					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCAGCCCCACCCGCACGTAC	0.647													25	57					0	0	0	0	G	955594	C	G	955594	3	3	420	1	0	0	0	0	1	0	0	0	4510	507	18	4	500	4	DGKQ	4	955594	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08		955594	190198682	26	83154											
TLR10	81793	broad.mit.edu	37	chr4	38776528	38776528	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcatttcataacttacAaattggcttttgccatctat	10	17	5	9	1	2	0	1	0	1	0	2	0	2	0	1	1	4	3	1	1	4	8			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:38776528A>G	ENST00000308973.4	-	4	1289	c.684T>C	c.(682-684)ttT>ttC	p.F228F	TLR10_ENST00000361424.2_Silent_p.F228F|TLR10_ENST00000506111.1_Silent_p.F228F|TLR10_ENST00000508334.1_Silent_p.F228F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	228					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CATAACTTACAAATTGGCTTT	0.323													12	21					0	0	0	0	G	38776528	A	G	38776528	2	3	420	1	0	0	0	0	0	0	0	1	16044	127	5	5		5	TLR10	4	38776528	Silent	SNP	A	TCGA-HD-8224-01A-11D-2394-08	37820934	38776528	152377748	27	83155											
RUFY3	22902	broad.mit.edu	37	chr4	71648884	71648884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaagttcctacatacTggaatccaatcggaaggtta	15	9	10	7	1	0	1	0	0	0	1	3	4	2	4	2	4	2	2	2	4	7	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:71648884T>C	ENST00000226328.4	+	9	1534	c.971T>C	c.(970-972)cTg>cCg	p.L324P	RUFY3_ENST00000381006.3_Missense_Mutation_p.L324P|RUFY3_ENST00000417478.2_Missense_Mutation_p.L384P|RUFY3_ENST00000502653.1_Missense_Mutation_p.L271P|RUFY3_ENST00000536664.1_Missense_Mutation_p.L308P	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	324					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TCCTACATACTGGAATCCAAT	0.338													4	18					0	0	0	0	C	71648884	T	C	71648884	3	2	420	1	0	0	0	0	1	0	0	0	13825	1580	55	5	1367	5	RUFY3	4	71648884	Missense_Mutation	SNP	T	TCGA-HD-8224-01A-11D-2394-08	32872356	71648884	119505392	28	83156											
ALB	213	broad.mit.edu	37	chr4	74270123	74270123	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtttcgtcgagatgcaCgtaagaaatccatttttcta	10	15	9	7	3	1	2	0	0	1	2	4	3	2	2	1	0	1	3	1	0	3	5	rs141733599		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:74270123C>T	ENST00000295897.4	+	1	168	c.79_splice	c.e1+1	p.H27_splice	ALB_ENST00000503124.1_5'UTR|ALB_ENST00000401494.3_Splice_Site_p.H27_splice|ALB_ENST00000509063.1_Splice_Site_p.H27_splice|ALB_ENST00000415165.2_Splice_Site_p.H27_splice	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	27	Albumin 1.		H -> Q (in Nagasaki-3).|H -> Y (in Larino).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCGAGATGCACGTAAGAAATC	0.358													20	55					0	0	0	0	T	74270123	C	T	74270123	5	4	420	1	0	0	0	0	0	0	1	0	486	550	19	1	81	1	ALB	4	74270123	Splice_Site	SNP	C	TCGA-HD-8224-01A-11D-2394-08	2621239	74270123	116884153	29	83157											
DCLK2	166614	broad.mit.edu	37	chr4	151168850	151168850	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacatcacggactctgccaAggtaccctccaggcctgttt	9	10	8	14	1	2	0	1	0	1	0	3	1	3	1	4	3	3	2	4	3	3	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:151168850A>T	ENST00000296550.7	+	13	2628	c.1875_splice	c.e13+1	p.K625_splice	DCLK2_ENST00000506325.1_Splice_Site_p.K624_splice|DCLK2_ENST00000302176.8_Splice_Site_p.K642_splice	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	625	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GACTCTGCCAAGGTACCCTCC	0.532													14	48					0	0	0	0	T	151168850	A	T	151168850	5	4	420	1	0	0	0	0	0	0	1	0	4324	86	3	5	1924	5	DCLK2	4	151168850	Splice_Site	SNP	A	TCGA-HD-8224-01A-11D-2394-08	76898727	151168850	39985426	30	83158											
TAS2R1	50834	broad.mit.edu	37	chr5	9629945	9629945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaagaagataacaatcAcattaacgtagaagatgaac	20	8	7	6	1	1	6	1	2	0	4	1	6	1	6	0	0	3	1	0	0	9	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:9629945A>C	ENST00000382492.2	-	1	518	c.200T>G	c.(199-201)gTg>gGg	p.V67G	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	67					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GATAACAATCACATTAACGTA	0.388													14	85					0	0	0	0	C	9629945	A	C	9629945	3	2	420	1	0	0	0	0	1	0	0	0	15656	159	6	5	703	5	TAS2R1	5	9629945	Missense_Mutation	SNP	A	TCGA-HD-8224-01A-11D-2394-08		9629945	171285315	31	83159											
HCN1	348980	broad.mit.edu	37	chr5	45645689	45645689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccaaccatcattataagCattattaaatcccagtaaaa	17	13	2	9	0	1	0	1	0	0	0	3	0	3	0	3	0	2	2	3	0	8	6			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:45645689C>A	ENST00000303230.4	-	2	504	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	149						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATTATAAGCATTATTAAAT	0.318													10	30					2.17888e-05	2.32553e-05	1	0	A	45645689	C	A	45645689	3	1	420	1	0	0	0	0	1	0	0	0	7046	710	25	4	2253	4	HCN1	5	45645689	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	36015744	45645689	135269571	32	83160											
SLC38A9	153129	broad.mit.edu	37	chr5	54929599	54929599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctaggataaatgtcaccGaagatatggcccaaaagctg	15	8	9	9	1	1	1	1	0	0	1	1	3	1	2	3	2	2	1	3	2	8	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:54929599G>A	ENST00000396865.2	-	14	2004	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Silent_p.F408F|SLC38A9_ENST00000416547.2_Silent_p.F347F|SLC38A9_ENST00000318672.3_Silent_p.F471F|SLC38A9_ENST00000512595.1_Silent_p.F408F	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	471					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAATGTCACCGAAGATATGGC	0.483													24	37					0	0	0	0	A	54929599	G	A	54929599	2	1	420	1	0	0	0	0	0	0	0	1	14699	1049	37	1		1	SLC38A9	5	54929599	Silent	SNP	G	TCGA-HD-8224-01A-11D-2394-08	9283910	54929599	125985661	33	83161											
VCAN	1462	broad.mit.edu	37	chr5	82837453	82837453	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatattgaagcgactttcaaAccatcaagtgaggaatacct	16	10	7	8	1	2	2	2	2	0	0	2	4	2	3	2	1	3	0	2	1	7	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:82837453A>T	ENST00000265077.3	+	8	9196	c.8631A>T	c.(8629-8631)aaA>aaT	p.K2877N	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.K1890N|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2877	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGACTTTCAAACCATCAAGTG	0.423													6	92					0	0	0	0	T	82837453	A	T	82837453	3	4	420	1	0	0	0	0	1	0	0	0	17234	40	2	5	8657	5	VCAN	5	82837453	Missense_Mutation	SNP	A	TCGA-HD-8224-01A-11D-2394-08	27907854	82837453	98077807	34	83162											
NR2F1	7025	broad.mit.edu	37	chr5	92923742	92923742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcgctgctgctgcgcGccgagccctaccccacgtcg	5	7	10	19	6	1	0	0	0	1	0	3	1	1	0	4	0	5	3	4	0	1	1			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:92923742G>A	ENST00000327111.3	+	2	2270	c.583G>A	c.(583-585)Gcc>Acc	p.A195T		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	195					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTGCTGCGCGCCGAGCCCTA	0.652													45	69					0	0	0	0	A	92923742	G	A	92923742	3	1	420	1	0	0	0	0	1	0	0	0	10698	1087	38	1	589	1	NR2F1	5	92923742	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	10086289	92923742	87991518	35	83163											
PCDHB7	56129	broad.mit.edu	37	chr5	140554539	140554539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgctcctgttcgtggCggtgcggctgtgcaggagga	3	10	18	10	4	0	0	0	0	0	0	3	2	1	2	1	6	3	4	1	6	0	1			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:140554539C>T	ENST00000231137.3	+	1	2297	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		708					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.697													44	733					0	0	0	0	T	140554539	C	T	140554539	3	4	420	1	0	0	0	0	1	0	0	0	11618	768	27	1	2125	1	PCDHB7	5	140554539	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	47630797	140554539	40360721	36	83164											
ARAP3	64411	broad.mit.edu	37	chr5	141037995	141037995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcccagctgctgtcccccGcatctccagtacctggttag	6	10	8	17	1	1	0	0	0	1	0	4	0	3	0	5	1	3	5	5	1	2	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:141037995G>A	ENST00000239440.4	-	25	3528	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R817W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R986W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1155	Ras-associating.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCTGTCCCCCGCATCTCCAGT	0.567													7	65					0	0	0	0	A	141037995	G	A	141037995	3	1	420	1	0	0	0	0	1	0	0	0	842	1086	38	1	1207	1	ARAP3	5	141037995	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	483456	141037995	39877265	37	83165											
ATXN1	6310	broad.mit.edu	37	chr6	16327454	16327454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgaggggctcgggtggAccaccacgtgcctggactcg	6	7	16	12	3	1	1	0	1	1	0	3	3	1	3	3	5	1	1	3	5	0	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:16327454A>G	ENST00000244769.4	-	8	2024	c.1088T>C	c.(1087-1089)gTc>gCc	p.V363A	ATXN1_ENST00000436367.1_Missense_Mutation_p.V363A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	363					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCTCGGGTGGACCACCACGTG	0.682													43	159					0	0	0	0	G	16327454	A	G	16327454	3	3	420	1	0	0	0	0	1	0	0	0	1213	275	10	5	1367	5	ATXN1	6	16327454	Missense_Mutation	SNP	A	TCGA-HD-8224-01A-11D-2394-08		16327454	154787613	38	83166											
CAP2	10486	broad.mit.edu	37	chr6	17426915	17426915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccttgctggggacgtggaGacccatgtaagtactttcct	8	12	11	10	1	0	1	0	0	0	1	2	3	2	2	3	3	2	3	3	3	2	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:17426915G>A	ENST00000229922.2	+	3	748	c.216G>A	c.(214-216)gaG>gaA	p.E72E	CAP2_ENST00000378990.2_Silent_p.E72E|CAP2_ENST00000465994.1_Silent_p.E72E|CAP2_ENST00000489374.1_Silent_p.E72E|CAP2_ENST00000493172.1_Silent_p.E72E	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	72					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGGACGTGGAGACCCATGTAA	0.493													8	105					0	0	0	0	A	17426915	G	A	17426915	2	1	420	1	0	0	0	0	0	0	0	1	2645	933	33	2		2	CAP2	6	17426915	Silent	SNP	G	TCGA-HD-8224-01A-11D-2394-08	1099461	17426915	153688152	39	83167											
TNXB	7148	broad.mit.edu	37	chr6	32026159	32026159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggtctcgtccacatcctCttgtggggctgaaaggtaat	7	11	14	9	1	2	1	0	1	2	0	5	1	4	1	2	5	0	2	2	5	2	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:32026159C>T	ENST00000375244.3	-	22	7702	c.7501G>A	c.(7501-7503)Gag>Aag	p.E2501K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2501K			P22105	TENX_HUMAN	tenascin XB	2561	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCACATCCTCTTGTGGGGCT	0.562													7	25					0	0	0	0	T	32026159	C	T	32026159	3	4	420	1	0	0	0	0	1	0	0	0	16440	922	32	2	7304	2	TNXB	6	32026159	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	14599244	32026159	139088908	40	83168											
BAI3	577	broad.mit.edu	37	chr6	70070996	70070996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagaaaatagtgaattGcggagaactgtgtacttatg	18	10	10	3	1	0	3	0	1	0	2	0	4	0	3	0	1	3	1	0	1	10	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:70070996G>A	ENST00000370598.1	+	29	4652	c.3831G>A	c.(3829-3831)ttG>ttA	p.L1277L	BAI3_ENST00000238918.8_Silent_p.L483L|BAI3_ENST00000546190.1_Silent_p.L241L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1277					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATAGTGAATTGCGGAGAACTG	0.398													12	93					0	0	0	0	A	70070996	G	A	70070996	2	1	420	1	0	0	0	0	0	0	0	1	1304	1310	46	4		4	BAI3	6	70070996	Silent	SNP	G	TCGA-HD-8224-01A-11D-2394-08	38044837	70070996	101044071	41	83169											
PLAGL1	5325	broad.mit.edu	37	chr6	144263779	144263779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcacactggtgagatttctgGggagaatgggtagccatatg	10	10	15	6	0	1	2	0	1	1	2	1	4	1	2	1	4	1	2	1	4	3	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:144263779G>A	ENST00000360537.2	-	5	2087	c.174C>T	c.(172-174)ccC>ccT	p.P58P	PLAGL1_ENST00000367571.1_Silent_p.P58P|PLAGL1_ENST00000354765.2_Silent_p.P58P|PLAGL1_ENST00000416623.1_Silent_p.P58P|PLAGL1_ENST00000392309.1_Silent_p.P58P|PLAGL1_ENST00000444202.1_Silent_p.P58P|PLAGL1_ENST00000392307.1_Silent_p.P6P|PLAGL1_ENST00000437412.1_Silent_p.P6P|PLAGL1_ENST00000429150.1_Silent_p.P58P|PLAGL1_ENST00000367572.1_Silent_p.P6P			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	58					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GAGATTTCTGGGGAGAATGGG	0.448											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	51					0	0	0	0	A	144263779	G	A	144263779	2	1	420	1	0	0	0	0	0	0	0	1	12091	1219	43	4		4	PLAGL1	6	144263779	Silent	SNP	G	TCGA-HD-8224-01A-11D-2394-08	74192783	144263779	26851288	42	83170											
STXBP5	134957	broad.mit.edu	37	chr6	147525760	147525760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagcagcagcatccgcctgGgaaccgggagccggagatcc	10	3	14	14	3	0	1	0	0	0	1	2	4	2	3	5	3	5	3	5	3	1	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:147525760G>A	ENST00000367481.3	+	1	200	c.92G>A	c.(91-93)gGg>gAg	p.G31E	STXBP5_ENST00000546097.1_Missense_Mutation_p.G31E|STXBP5_ENST00000321680.6_Missense_Mutation_p.G31E|STXBP5_ENST00000367480.3_Missense_Mutation_p.G31E	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	31					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CATCCGCCTGGGAACCGGGAG	0.617													12	30					0	0	0	0	A	147525760	G	A	147525760	3	1	420	1	0	0	0	0	1	0	0	0	15446	1232	43	4	94	4	STXBP5	6	147525760	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	3261981	147525760	23589307	43	83171											
SYNE1	23345	broad.mit.edu	37	chr6	152605145	152605145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtttccccgaggctttcaTcctgatggtggacattcgct	5	13	10	13	3	1	1	1	1	0	0	4	3	3	2	4	3	0	3	4	3	0	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:152605145T>C	ENST00000367255.5	-	96	18776	c.18175A>G	c.(18175-18177)Atg>Gtg	p.M6059V	SYNE1_ENST00000423061.1_Missense_Mutation_p.M5988V|SYNE1_ENST00000356820.4_Missense_Mutation_p.M583V|SYNE1_ENST00000341594.5_Missense_Mutation_p.M5671V|SYNE1_ENST00000448038.1_Missense_Mutation_p.M5988V|SYNE1_ENST00000265368.4_Missense_Mutation_p.M6059V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6059					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGCTTTCATCCTGATGGTG	0.522										HNSCC(10;0.0054)			14	58					0	0	0	0	C	152605145	T	C	152605145	3	2	420	1	0	0	0	0	1	0	0	0	15536	1435	50	5	8495	5	SYNE1	6	152605145	Missense_Mutation	SNP	T	TCGA-HD-8224-01A-11D-2394-08	5079385	152605145	18509922	44	83172											
ANKMY2	57037	broad.mit.edu	37	chr7	16666772	16666772	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatatcgagttttcctttaTatgctgcatgcattagagga	11	15	8	7	1	0	1	0	0	0	1	2	3	1	2	1	1	3	4	1	1	4	7			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:16666772T>A	ENST00000306999.2	-	3	407	c.164A>T	c.(163-165)tAt>tTt	p.Y55F		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	55						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTTCCTTTATATGCTGCATG	0.353													10	25					0	0	0	0	A	16666772	T	A	16666772	3	1	420	1	0	0	0	0	1	0	0	0	635	1406	49	5	1193	5	ANKMY2	7	16666772	Missense_Mutation	SNP	T	TCGA-HD-8224-01A-11D-2394-08		16666772	142471891	45	83173											
ITGB8	3696	broad.mit.edu	37	chr7	20371553	20371553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttggactgggccaaGgtggtaagttgttttgtttt	5	19	13	4	0	1	0	0	0	1	0	1	1	1	1	1	4	0	5	1	4	2	9			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:20371553G>T	ENST00000222573.3	+	1	808	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	42					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTGGGCCAAGGTGGTAAGtt	0.542													13	31					9.31168e-06	1.01333e-05	1	0	T	20371553	G	T	20371553	3	4	420	1	0	0	0	0	1	0	0	0	7954	1000	35	4	126	4	ITGB8	7	20371553	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	3704781	20371553	138767110	46	83174											
ABCB5	340273	broad.mit.edu	37	chr7	20795117	20795117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggtcactcacaggctctCtgcaattcagaacgcagatt	11	10	9	11	1	4	2	3	0	1	2	5	2	4	2	0	2	2	3	0	2	2	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:20795117C>G	ENST00000404938.2	+	28	4296	c.3644C>G	c.(3643-3645)tCt>tGt	p.S1215C	ABCB5_ENST00000258738.6_Missense_Mutation_p.S770C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	770					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACAGGCTCTCTGCAATTCAG	0.453													7	43					0	0	0	0	G	20795117	C	G	20795117	3	3	420	1	0	0	0	0	1	0	0	0	44	913	32	2	3791	2	ABCB5	7	20795117	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	423564	20795117	138343546	47	83175											
WDR60	55112	broad.mit.edu	37	chr7	158738284	158738284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggctggtggccatGgctgcggtgggtgagcctga	4	8	18	11	1	0	2	0	2	0	0	0	2	0	2	3	6	3	3	3	6	0	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:158738284G>T	ENST00000407559.3	+	25	3173	c.3015G>T	c.(3013-3015)atG>atT	p.M1005I		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1005										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGGTGGCCATGGCTGCGGTGG	0.607													15	20					2.31682e-05	2.44921e-05	1	0	T	158738284	G	T	158738284	3	4	420	1	0	0	0	0	1	0	0	0	17407	1348	47	4	3113	4	WDR60	7	158738284	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	137943167	158738284	400379	48	83176											
CDKN2A	1029	broad.mit.edu	37	chr9	21974765	21974784	+	Frame_Shift_Del	DEL	GCCGCGGCCGTGGCCAGCCA	GCCGCGGCCGTGGCCAGCCA	-																															cctcctctacccgaccccggGccgcggccgtggccagccag																								rs138677674		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:21974765_21974784delGCCGCGGCCGTGGCCAGCCA	ENST00000304494.5	-	1	313_332	c.43_62delTGGCTGGCCACGGCCGCGGC	c.(43-63)cfs	p.WLATAAA15fs	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(7)|p.L16fs*9(4)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.T18P(2)|p.A21D(2)|p.L16P(2)|p.L16_A17insAT(1)|p.W15L(1)|p.R22fs*14(1)|p.S12fs*20(1)|p.A20E(1)|p.S7_A19del(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.T18M(1)|p.A20fs*26(1)|p.A20_A21del(1)|p.A17fs*5(1)|p.A20S(1)|p.A17T(1)|p.L16R(1)|p.A20fs*6(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGACCCCGGGCCGCGGCCGTGGCCAGCCAGTCAGCCGAA	0.75		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	38	---	---	---	---					-	21974784	GCCGCGGCCGTGGCCAGCCA	-	21974765	7	5	420	1	0	1	0	1	0	0	0	0	3190	1203	42	0	621	0	CDKN2A	9	21974765	Frame_Shift_Del	DEL	GCCGCGGCCGTGGCCAGCCA	TCGA-HD-8224-01A-11D-2394-08		21974765	119238666	49	83177											
GLIPR2	152007	broad.mit.edu	37	chr9	36148600	36148600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcccggagtccagccGtggccagtgtggggagaacc	8	4	16	13	2	0	1	0	0	0	1	1	3	1	2	5	4	3	1	5	4	1	0	rs144250121	by1000genomes	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:36148600G>A	ENST00000377960.4	+	3	213	c.179G>A	c.(178-180)cGt>cAt	p.R60H	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.R60H|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	60						extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GAGTCCAGCCGTGGCCAGTGT	0.597													6	8					0	0	0	0	A	36148600	G	A	36148600	3	1	420	1	0	0	0	0	1	0	0	0	6495	1145	40	1	189	1	GLIPR2	9	36148600	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	14173835	36148600	105064831	50	83178											
PRKACG	5568	broad.mit.edu	37	chr9	71628412	71628432	+	In_Frame_Del	DEL	CAAGGTCCAAGTGCGGCCCTT	CAAGGTCCAAGTGCGGCCCTT	-																															aggtactctggggtcccgcaCaaggtccaagtgcggccctt																										TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:71628412_71628432delCAAGGTCCAAGTGCGGCCCTT	ENST00000377276.2	-	1	607_627	c.577_597delAAGGGCCGCACTTGGACCTTG	c.(577-597)del	p.KGRTWTL193del		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	193	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.R195C(1)|p.R195H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGGTCCCGCACAAGGTCCAAGTGCGGCCCTTCACGCGCTTG	0.62													8	27	---	---	---	---					-	71628432	CAAGGTCCAAGTGCGGCCCTT	-	71628412	7	5	420	1	0	1	0	1	0	0	0	0	12579	477	17	0	462	0	PRKACG	9	71628412	In_Frame_Del	DEL	CAAGGTCCAAGTGCGGCCCTT	TCGA-HD-8224-01A-11D-2394-08	35479812	71628412	69585019	51	83179											
ENTPD8	377841	broad.mit.edu	37	chr9	140331717	140331717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagcagccctgcaggctctCaccagcctgtgcagcattag	9	7	10	15	0	1	0	1	0	1	0	2	0	1	0	3	1	6	5	3	1	2	1			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:140331717C>T	ENST00000371506.2	-	4	472	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ENTPD8_ENST00000344119.2_Missense_Mutation_p.E97K|ENTPD8_ENST00000472938.1_Missense_Mutation_p.E97K	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	97						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCAGGCTCTCACCAGCCTGT	0.637													12	89					0	0	0	0	T	140331717	C	T	140331717	3	4	420	1	0	0	0	0	1	0	0	0	5183	835	29	2	1226	2	ENTPD8	9	140331717	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	68703305	140331717	881714	52	83180											
PCDH15	65217	broad.mit.edu	37	chr10	55582841	55582841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgggtgaaaatgggtctaCaaaatctgttctctgtgaaa	12	14	10	5	0	3	2	0	2	3	0	4	2	3	2	0	2	1	1	0	2	6	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:55582841C>A	ENST00000361849.3	-	34	5045	c.4651G>T	c.(4651-4653)Gta>Tta	p.V1551L	PCDH15_ENST00000395432.2_Missense_Mutation_p.V1509L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1480L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1549L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1526L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1546L	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	1549					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATGGGTCTACAAAATCTGTT	0.413										HNSCC(58;0.16)			52	84					9.52127e-25	1.1009e-24	1	0	A	55582841	C	A	55582841	3	1	420	1	0	0	0	0	1	0	0	0	11582	478	17	4	2832	4	PCDH15	10	55582841	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08		55582841	79951906	53	83181											
CYP2C19	1557	broad.mit.edu	37	chr10	96609684	96609684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtttctagggcacaaccaTattaacttccctcacttctg	9	15	5	12	0	3	0	1	0	2	0	4	0	4	0	2	1	2	2	2	1	4	7			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:96609684T>C	ENST00000371321.3	+	8	1242	c.1160T>C	c.(1159-1161)aTa>aCa	p.I387T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	387					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCACAACCATATTAACTTCC	0.398													51	125					0	0	0	0	C	96609684	T	C	96609684	3	2	420	1	0	0	0	0	1	0	0	0	4198	1406	49	5	1190	5	CYP2C19	10	96609684	Missense_Mutation	SNP	T	TCGA-HD-8224-01A-11D-2394-08	41026843	96609684	38925063	54	83182											
SFXN2	118980	broad.mit.edu	37	chr10	104486509	104486509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccgcactgtctttgtatCtgagcgggagctggactggg	5	10	14	12	2	2	1	0	1	2	0	2	3	2	3	2	3	2	3	2	3	1	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:104486509C>G	ENST00000369893.4	+	2	283	c.116C>G	c.(115-117)tCt>tGt	p.S39C	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	39					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GTCTTTGTATCTGAGCGGGAG	0.582													6	69					0	0	0	0	G	104486509	C	G	104486509	3	3	420	1	0	0	0	0	1	0	0	0	14282	913	32	2	118	2	SFXN2	10	104486509	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	7876825	104486509	31048238	55	83183											
SLC5A12	159963	broad.mit.edu	37	chr11	26743121	26743121	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgacagggccaaagctcatTtgccttcccccaaccaggaa	11	6	8	16	1	1	0	1	0	0	0	2	2	2	1	6	2	3	1	6	2	3	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:26743121T>C	ENST00000396005.3	-	1	450	c.141A>G	c.(139-141)caA>caG	p.Q47Q	SLC5A12_ENST00000280467.6_Silent_p.Q47Q	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	47					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCTCATTTGCCTTCCCC	0.527													28	75					0	0	0	0	C	26743121	T	C	26743121	2	2	420	1	0	0	0	0	0	0	0	1	14752	1838	64	5		5	SLC5A12	11	26743121	Silent	SNP	T	TCGA-HD-8224-01A-11D-2394-08		26743121	108263395	56	83184											
GRIN2B	2904	broad.mit.edu	37	chr12	13764725	13764725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagacaaagacagccaCggctgagacgatgagcagca	16	3	11	11	2	1	4	1	2	0	3	1	6	1	4	1	1	3	3	1	1	2	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:13764725C>T	ENST00000279593.3	-	8	1923	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	572					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGACAGCCACGGCTGAGACG	0.537													30	40					0	0	0	0	T	13764725	C	T	13764725	3	4	420	1	0	0	0	0	1	0	0	0	6830	536	19	1	2764	1	GRIN2B	12	13764725	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08		13764725	120087170	57	83185											
PFKM	5213	broad.mit.edu	37	chr12	48526799	48526799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggggctgacaccttccGttctgagtggagtgacttgt	6	12	13	10	1	1	3	0	3	1	0	2	4	2	4	2	3	0	2	2	3	0	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:48526799G>A	ENST00000340802.6	+	7	823	c.599G>A	c.(598-600)cGt>cAt	p.R200H	PFKM_ENST00000551804.1_Missense_Mutation_p.R129H|PFKM_ENST00000395233.2_Missense_Mutation_p.R129H|PFKM_ENST00000359794.5_Missense_Mutation_p.R129H|PFKM_ENST00000312352.7_Missense_Mutation_p.R129H|PFKM_ENST00000547587.1_Missense_Mutation_p.R129H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	129					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GACACCTTCCGTTCTGAGTGG	0.527													22	78					0	0	0	0	A	48526799	G	A	48526799	3	1	420	1	0	0	0	0	1	0	0	0	11837	1145	40	1	621	1	PFKM	12	48526799	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	34762074	48526799	85325096	58	83186											
MED13L	23389	broad.mit.edu	37	chr12	116413040	116413040	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctccagggtagagatgtCatttggacaatccctatgca	11	11	9	10	0	2	1	1	0	1	1	4	3	3	2	2	2	1	2	2	2	3	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:116413040C>G	ENST00000281928.3	-	25	5873	c.5667G>C	c.(5665-5667)atG>atC	p.M1889I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1889					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTAGAGATGTCATTTGGACAA	0.443													26	54					0	0	0	0	G	116413040	C	G	116413040	3	3	420	1	0	0	0	0	1	0	0	0	9500	826	29	2	993	2	MED13L	12	116413040	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	67886241	116413040	17438855	59	83187											
MYO16	23026	broad.mit.edu	37	chr13	109550430	109550430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatttgtccagttgcttcAtcaagtattttgaactgcag	10	16	8	7	0	2	2	2	2	0	0	3	2	3	2	1	0	3	4	1	0	3	6			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr13:109550430A>G	ENST00000356711.2	+	15	1786	c.1660A>G	c.(1660-1662)Atc>Gtc	p.I554V	MYO16_ENST00000251041.5_Missense_Mutation_p.I554V|MYO16_ENST00000457511.2_Missense_Mutation_p.I66V|MYO16_ENST00000357550.2_Missense_Mutation_p.I554V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	554	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGTTGCTTCATCAAGTATTT	0.463													18	60					0	0	0	0	G	109550430	A	G	109550430	3	3	420	1	0	0	0	0	1	0	0	0	10134	217	8	5	1714	5	MYO16	13	109550430	Missense_Mutation	SNP	A	TCGA-HD-8224-01A-11D-2394-08		109550430	5619448	60	83188											
ACTR10	55860	broad.mit.edu	37	chr14	58701146	58701146	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttctgtttcaaaggaataTtataatcagacgggccgtat	12	13	9	7	3	3	1	2	0	1	1	3	2	3	2	1	2	0	3	1	2	6	6			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:58701146T>A	ENST00000254286.4	+	13	1211	c.1131T>A	c.(1129-1131)taT>taA	p.Y377*	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	377						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CAAAGGAATATTATAATCAGA	0.378													5	70					0	0	0	0	A	58701146	T	A	58701146	4	1	420	1	0	0	0	0	0	1	0	0	208	1500	52	5	1181	5	ACTR10	14	58701146	Nonsense_Mutation	SNP	T	TCGA-HD-8224-01A-11D-2394-08		58701146	48648394	61	83189											
ESRRB	2103	broad.mit.edu	37	chr14	76949084	76949084	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtggtcatcattggcTgggccaagcacatcccaggt	8	10	12	11	0	2	0	2	0	0	0	3	0	3	0	2	4	2	3	2	4	1	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:76949084T>A	ENST00000380887.2	+	5	841	c.769T>A	c.(769-771)Tgg>Agg	p.W257R	ESRRB_ENST00000509242.1_Missense_Mutation_p.W257R|ESRRB_ENST00000261532.7_Missense_Mutation_p.W257R|ESRRB_ENST00000556177.1_Missense_Mutation_p.W257R			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CATCATTGGCTGGGCCAAGCA	0.612													24	32					0	0	0	0	A	76949084	T	A	76949084	3	1	420	1	0	0	0	0	1	0	0	0	5299	1580	55	5	783	5	ESRRB	14	76949084	Missense_Mutation	SNP	T	TCGA-HD-8224-01A-11D-2394-08	18247938	76949084	30400456	62	83190											
KIF26A	26153	broad.mit.edu	37	chr14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcctcccccggaaacCgaggactgcctctgccacca	8	5	8	20	2	1	0	0	0	1	0	3	3	3	2	8	2	4	0	8	2	1	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:104642766C>T	ENST00000315264.7	+	11	3602	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L	KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGGAAACCGAGGACTGCC	0.721													13	12					0	0	0	0	T	104642766	C	T	104642766	3	4	420	1	0	0	0	0	1	0	0	0	8345	652	23	1	3687	1	KIF26A	14	104642766	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	27693682	104642766	2706774	63	83191											
RYR3	6263	broad.mit.edu	37	chr15	34078150	34078150	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaacaacaacctgggcAtcgatgaggcctcctggatg	11	8	10	12	1	2	1	2	1	0	0	4	3	3	2	3	3	3	1	3	3	3	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:34078150A>T	ENST00000389232.4	+	66	9626	c.9556A>T	c.(9556-9558)Atc>Ttc	p.I3186F	RYR3_ENST00000415757.3_Missense_Mutation_p.I3186F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3186					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACCTGGGCATCGATGAGGC	0.552													60	285					0	0	0	0	T	34078150	A	T	34078150	3	4	420	1	0	0	0	0	1	0	0	0	13855	217	8	5	9818	5	RYR3	15	34078150	Missense_Mutation	SNP	A	TCGA-HD-8224-01A-11D-2394-08		34078150	68453242	64	83192											
CATSPER2	117155	broad.mit.edu	37	chr15	43924439	43924439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttcctctaggttatactGaagcttttctagcaactcaa	11	14	6	10	1	3	1	1	1	2	0	4	1	4	1	1	1	4	4	1	1	7	7			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:43924439G>T	ENST00000396879.1	-	13	1625	c.1513C>A	c.(1513-1515)Cag>Aag	p.Q505K	CATSPER2_ENST00000381761.1_Missense_Mutation_p.Q511K|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Missense_Mutation_p.Q505K|CATSPER2_ENST00000321596.5_Missense_Mutation_p.Q507K|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	507					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGGTTATACTGAAGCTTTTCT	0.443													6	148					0.0215528	0.0219482	1	0	T	43924439	G	T	43924439	3	4	420	1	0	0	0	0	1	0	0	0	2713	1299	45	2	81	2	CATSPER2	15	43924439	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	9846289	43924439	58606953	65	83193											
SECISBP2L	9728	broad.mit.edu	37	chr15	49284782	49284782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttcatcttcttcttcttCaagcatgccaggtacaagag	10	14	6	11	0	7	1	2	0	5	1	7	1	7	1	1	1	3	2	1	1	3	6			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:49284782C>G	ENST00000559471.1	-	18	3228	c.2965G>C	c.(2965-2967)Gaa>Caa	p.E989Q	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E944Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	989										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						tcttcttcttcAAGCATGCCA	0.463													26	53					0	0	0	0	G	49284782	C	G	49284782	3	3	420	1	0	0	0	0	1	0	0	0	14094	835	29	2	344	2	SECISBP2L	15	49284782	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	5360343	49284782	53246610	66	83194											
THUMPD1	55623	broad.mit.edu	37	chr16	20752832	20752832	+	Splice_Site	DEL	T	T	-																															cccaccccgggaccggtaccTtttctggcccatacatgtcg																										TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:20752832delT	ENST00000381337.2	-	1	574	c.231_splice	c.e1+1	p.K77_splice	THUMPD1_ENST00000396083.2_Splice_Site_p.K77_splice|THUMPD1_ENST00000431224.2_Splice_Site_p.K163_splice	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	77										NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						GACCGGTACCTTTTCTGGCCC	0.657													2	4	---	---	---	---					-	20752832	T	-	20752832	8	5	420	1	0	1	0	1	0	0	1	0	15976	1623	56	0	847	0	THUMPD1	16	20752832	Splice_Site	DEL	T	TCGA-HD-8224-01A-11D-2394-08		20752832	69601921	67	83195											
USP31	57478	broad.mit.edu	37	chr16	23080082	23080082	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggccgaggctgacttcTgcttctgtggcgaaggagat	7	10	16	8	2	2	3	0	2	2	1	2	6	2	3	1	4	1	2	1	4	1	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:23080082T>C	ENST00000219689.7	-	16	3343	c.3344A>G	c.(3343-3345)cAg>cGg	p.Q1115R	USP31_ENST00000567975.1_Missense_Mutation_p.Q408R	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1115	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGCTGACTTCTGCTTCTGTGG	0.602													74	73					0	0	0	0	C	23080082	T	C	23080082	3	2	420	1	0	0	0	0	1	0	0	0	17158	1580	55	5	718	5	USP31	16	23080082	Missense_Mutation	SNP	T	TCGA-HD-8224-01A-11D-2394-08	2327250	23080082	67274671	68	83196											
ZNF668	79759	broad.mit.edu	37	chr16	31075550	31075550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagggcctaggcttggccgcGgagcctgacaccttctcccc	5	8	12	16	2	1	1	0	1	1	0	2	2	1	2	6	4	1	1	6	4	2	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:31075550G>A	ENST00000538906.1	-	2	1015	c.231C>T	c.(229-231)tcC>tcT	p.S77S	ZNF668_ENST00000394983.2_Silent_p.S77S|ZNF668_ENST00000535577.1_Silent_p.S77S|ZNF668_ENST00000426488.2_Silent_p.S100S|ZNF668_ENST00000539836.3_Silent_p.S100S|ZNF668_ENST00000300849.4_Silent_p.S77S	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTTGGCCGCGGAGCCTGACA	0.652													27	54					0	0	0	0	A	31075550	G	A	31075550	2	1	420	1	0	0	0	0	0	0	0	1	18170	1103	39	1		1	ZNF668	16	31075550	Silent	SNP	G	TCGA-HD-8224-01A-11D-2394-08	7995468	31075550	59279203	69	83197											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522		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)			25	13					0	0	0	0	A	7574018	G	A	7574018	3	1	420	1	0	0	0	0	1	0	0	0	16476	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08		7574018	73621192	70	83198											
CCL23	6368	broad.mit.edu	37	chr17	34340898	34340898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcactagtagcatggaatCctgcagcatgagaaagggtc	13	7	12	9	0	0	1	0	1	0	1	2	3	1	2	1	2	4	5	1	2	4	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:34340898C>T	ENST00000293280.2	-	3	258	c.188G>A	c.(187-189)gGa>gAa	p.G63E	CCL23_ENST00000591423.1_Splice_Site_p.R46_splice	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	46					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	AGCATGGAATCCTGCAGCATG	0.527													20	44					0	0	0	0	T	34340898	C	T	34340898	3	4	420	1	0	0	0	0	1	0	0	0	2922	869	30	2	233	2	CCL23	17	34340898	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	26766880	34340898	46854312	71	83199											
AOC2	314	broad.mit.edu	37	chr17	40997475	40997475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaacgggagtttaagtctGgccggttggaagtggttaga	9	11	17	4	2	1	1	0	0	1	1	1	4	1	4	1	6	1	3	1	6	4	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:40997475G>T	ENST00000253799.3	+	1	859	c.832G>T	c.(832-834)Ggc>Tgc	p.G278C	AOC2_ENST00000452774.2_Missense_Mutation_p.G278C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	278					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTTTAAGTCTGGCCGGTTGGA	0.572													25	81					1.55469e-16	1.76093e-16	1	0	T	40997475	G	T	40997475	3	4	420	1	0	0	0	0	1	0	0	0	728	1348	47	4	834	4	AOC2	17	40997475	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	6656577	40997475	40197735	72	83200											
SGCA	6442	broad.mit.edu	37	chr17	48245324	48245324	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcacagcctacaatcGggacagctttgataccactc	11	8	8	14	1	1	1	1	1	0	0	3	2	1	2	3	2	4	1	3	2	3	3	rs145697858	by1000genomes	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:48245324G>C	ENST00000262018.3	+	4	365	c.329G>C	c.(328-330)cGg>cCg	p.R110P	SGCA_ENST00000451235.2_Missense_Mutation_p.R8P|SGCA_ENST00000344627.6_Missense_Mutation_p.R110P|SGCA_ENST00000543315.1_Missense_Mutation_p.R110P|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	110					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GCCTACAATCGGGACAGCTTT	0.587													35	122					0	0	0	0	C	48245324	G	C	48245324	3	2	420	1	0	0	0	0	1	0	0	0	14286	1116	39	3	343	3	SGCA	17	48245324	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	7247849	48245324	32949886	73	83201											
CTAGE1	64693	broad.mit.edu	37	chr18	19997513	19997513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttctgttgcctccttctCaaagctggcattctttaaag	7	16	7	11	0	3	0	1	0	3	0	5	0	4	0	2	1	3	4	2	1	3	6			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:19997513C>T	ENST00000391403.2	-	1	365	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	88						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCCTCCTTCTCAAAGCTGGCA	0.363													82	151					0	0	0	0	T	19997513	C	T	19997513	3	4	420	1	0	0	0	0	1	0	0	0	4024	835	29	2	1979	2	CTAGE1	18	19997513	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08		19997513	58079735	74	83202											
DSG4	147409	broad.mit.edu	37	chr18	28993242	28993242	+	Missense_Mutation	SNP	C	C	A																															tgcacccaatgttgtagtaaCcgaagcagtaatggcacctg																										TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:28993242C>A	ENST00000359747.4	+	15	2893	c.2864C>A	c.(2863-2865)aCc>aAc	p.T955N	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.T936N	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	936					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTGTAGTAACCGAAGCAGTA	0.408													60	90					6.20203e-27	7.32368e-27	1	0	A	28993242	C	A	28993242	3	1	420	1	0	0	0	0	1	0	0	0	4815	507	18	4	2990	4	DSG4	18	28993242	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	8995729	28993242	49084006	75	83203	1053	2									
DSG4	147409	broad.mit.edu	37	chr18	28993243	28993243	+	Silent	SNP	C	C	A																															gcacccaatgttgtagtaacCgaagcagtaatggcacctgt																										TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:28993243C>A	ENST00000359747.4	+	15	2894	c.2865C>A	c.(2863-2865)acC>acA	p.T955T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.T936T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	936					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGTAGTAACCGAAGCAGTAA	0.408													59	92					4.09106e-26	4.78009e-26	1	0	A	28993243	C	A	28993243	2	1	420	1	0	0	0	0	0	0	0	1	4815	639	23	3		3	DSG4	18	28993243	Silent	SNP	C	TCGA-HD-8224-01A-11D-2394-08	1	28993243	49084005	76	83204	1053	2									
FHOD3	80206	broad.mit.edu	37	chr18	34297916	34297930	+	In_Frame_Del	DEL	GGAGAAGGGGGATGG	GGAGAAGGGGGATGG	-																															aggaagtctccggatgatgaGgagaagggggatggggaggc																										TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:34297916_34297930delGGAGAAGGGGGATGG	ENST00000257209.4	+	16	2252_2266	c.2130_2144delGGAGAAGGGGGATGG	c.(2128-2145)gag>ga	p.EEKGDG710del	FHOD3_ENST00000359247.4_In_Frame_Del_p.EEKGDG693del|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_In_Frame_Del_p.EEKGDG885del|FHOD3_ENST00000445677.1_In_Frame_Del_p.EEKGDG672del	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	693					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGATGATGAGGAGAAGGGGGATGGGGAGGCTGGG	0.567													29	45	---	---	---	---					-	34297930	GGAGAAGGGGGATGG	-	34297916	7	5	420	1	0	1	0	1	0	0	0	0	5928	991	35	0	2192	0	FHOD3	18	34297916	In_Frame_Del	DEL	GGAGAAGGGGGATGG	TCGA-HD-8224-01A-11D-2394-08	5304673	34297916	43779332	77	83205											
SERPINB12	89777	broad.mit.edu	37	chr18	61231287	61231287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtgaatgctgtttacttCaaggccaaatgggaaacata	13	11	10	7	0	1	1	1	1	0	0	1	2	1	2	1	3	3	2	1	3	6	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:61231287C>G	ENST00000382768.1	+	5	639	c.639C>G	c.(637-639)ttC>ttG	p.F213L	SERPINB12_ENST00000269491.1_Missense_Mutation_p.F193L			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	193					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGTTTACTTCAAGGCCAAAT	0.413													6	77					0	0	0	0	G	61231287	C	G	61231287	3	3	420	1	0	0	0	0	1	0	0	0	14186	825	29	2	597	2	SERPINB12	18	61231287	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	26933371	61231287	16845961	78	83206											
SPTBN4	57731	broad.mit.edu	37	chr19	41010033	41010033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggactggatggaggaGatgcaggtgccggcgggggg	7	6	23	5	2	0	1	0	0	0	1	0	5	0	4	1	10	2	1	1	10	0	0			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:41010033G>T	ENST00000352632.3	+	12	1745	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E553D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E553D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E553D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E553D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	553					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGATGGAGGAGATGCAGGTGC	0.622													7	36					0.0381472	0.038494	1	0	T	41010033	G	T	41010033	3	4	420	1	0	0	0	0	1	0	0	0	15211	933	33	2	1701	2	SPTBN4	19	41010033	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08		41010033	18118950	79	83207											
B3GNT8	374907	broad.mit.edu	37	chr19	41931832	41931832	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tagaagggtcctcctggcttCcggagaggcatggcctgggt	6	9	16	10	1	0	2	0	0	0	2	3	3	3	2	4	6	0	2	4	6	2	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:41931832C>T	ENST00000321702.2	-	3	1305	c.852G>A	c.(850-852)cgG>cgA	p.R284R	CTC-435M10.6_ENST00000598887.1_RNA	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	284					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						CTCCTGGCTTCCGGAGAGGCA	0.657													7	52					0	0	0	0	T	41931832	C	T	41931832	2	4	420	1	0	0	0	0	0	0	0	1	1267	842	30	2		2	B3GNT8	19	41931832	Silent	SNP	C	TCGA-HD-8224-01A-11D-2394-08	921799	41931832	17197151	80	83208											
POLD1	5424	broad.mit.edu	37	chr19	50916759	50916759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagtacacagtggagaatgGctacagcaccagtgccaagg	14	6	12	9	0	0	1	0	0	0	1	0	2	0	1	2	3	4	3	2	3	5	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:50916759G>T	ENST00000440232.2	+	18	2284	c.2231G>T	c.(2230-2232)gGc>gTc	p.G744V	POLD1_ENST00000595904.1_Missense_Mutation_p.G770V|POLD1_ENST00000599857.1_Missense_Mutation_p.G744V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	744					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGGAGAATGGCTACAGCACC	0.637								DNA polymerases (catalytic subunits)					4	16					0.150653	0.150653	1	0	T	50916759	G	T	50916759	3	4	420	1	0	0	0	0	1	0	0	0	12262	1203	42	4	2297	4	POLD1	19	50916759	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	8984927	50916759	8212224	81	83209											
ESF1	51575	broad.mit.edu	37	chr20	13756720	13756720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcttcatcttcatcCtcctcttcatcatcttcact	5	18	0	18	0	9	0	5	0	4	0	13	0	13	0	4	0	0	0	4	0	0	4			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:13756720C>T	ENST00000202816.1	-	3	941	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	278	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						catcttcatcctcctcttcat	0.408													24	91					0	0	0	0	T	13756720	C	T	13756720	2	4	420	1	0	0	0	0	0	0	0	1	5289	680	24	4		4	ESF1	20	13756720	Silent	SNP	C	TCGA-HD-8224-01A-11D-2394-08		13756720	49268800	82	83210											
MYLK2	85366	broad.mit.edu	37	chr20	30419606	30419606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagagacctttgaggccGtatcagacgaggccaaagac	14	6	12	9	2	1	5	1	2	0	3	1	7	1	5	3	2	0	1	3	2	3	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:30419606G>A	ENST00000375994.2	+	10	1798	c.1525G>A	c.(1525-1527)Gta>Ata	p.V509I	MYLK2_ENST00000375985.4_Missense_Mutation_p.V509I|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	509	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGAGGCCGTATCAGACGA	0.522													30	91					0	0	0	0	A	30419606	G	A	30419606	3	1	420	1	0	0	0	0	1	0	0	0	10127	1145	40	1	1563	1	MYLK2	20	30419606	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	16662886	30419606	32605914	83	83211											
CBLN4	140689	broad.mit.edu	37	chr20	54573662	54573662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtggaatactgccagcctCcaaccaaattacctttctcc	11	10	5	15	1	1	0	0	0	1	0	3	1	2	1	6	1	5	0	6	1	5	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:54573662C>A	ENST00000064571.2	-	3	1857	c.557G>T	c.(556-558)gGa>gTa	p.G186V		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	186	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CTGCCAGCCTCCAACCAAATT	0.458													29	45					7.26314e-15	8.14352e-15	1	0	A	54573662	C	A	54573662	3	1	420	1	0	0	0	0	1	0	0	0	2732	855	30	2	52	2	CBLN4	20	54573662	Missense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08	24154056	54573662	8451858	84	83212											
AGPAT3	56894	broad.mit.edu	37	chr21	45397973	45397973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgaaaaggaagcagctCagtggcttcataaactgtac	14	9	11	7	0	2	1	2	1	0	0	2	3	2	3	0	3	4	4	0	3	6	3			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr21:45397973C>T	ENST00000398063.2	+	7	1306	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	AGPAT3_ENST00000327505.2_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000398058.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000546158.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000398061.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000291572.8_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	272					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GGAAGCAGCTCAGTGGCTTCA	0.527													14	49					0	0	0	0	T	45397973	C	T	45397973	4	4	420	1	0	0	0	0	0	1	0	0	388	827	29	2	836	2	AGPAT3	21	45397973	Nonsense_Mutation	SNP	C	TCGA-HD-8224-01A-11D-2394-08		45397973	2731922	85	83213											
MXRA5	25878	broad.mit.edu	37	chrX	3235367	3235367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccacgcactcatagcGcccgctgtccttgggcgcga	5	6	14	16	6	1	0	1	0	0	0	2	1	2	0	3	3	1	2	3	3	1	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chrX:3235367G>A	ENST00000217939.6	-	6	6509	c.6355C>T	c.(6355-6357)Cgc>Tgc	p.R2119C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2119	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTCATAGCGCCCGCTGTCC	0.662													14	6					0	0	0	0	A	3235367	G	A	3235367	3	1	420	1	0	0	0	0	1	0	0	0	10073	1087	38	1	2139	1	MXRA5	23	3235367	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08		3235367	152035193	86	83214											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177094	89177094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcttggaatatggaggccGctgcggacggcccggctgag	6	7	16	12	4	1	1	0	1	1	0	1	4	1	4	3	6	1	2	3	6	2	2			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chrX:89177094G>A	ENST00000561129.2	+	1	140	c.10G>A	c.(10-12)Gct>Act	p.A4T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A4T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TATGGAGGCCGCTGCGGACGG	0.512													20	19					0	0	0	0	A	89177094	G	A	89177094	3	1	420	1	0	0	0	0	1	0	0	0	15921	1087	38	1	12	1	TGIF2LX	23	89177094	Missense_Mutation	SNP	G	TCGA-HD-8224-01A-11D-2394-08	85941727	89177094	66093466	87	83215											
CLCN6	1185	broad.mit.edu	37	chr1	11900211	11900211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccctagatcgtggggatCatcacacggcacaacctcac	10	8	9	14	2	3	1	3	0	0	1	4	2	3	2	2	3	2	1	2	3	2	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:11900211C>T	ENST00000346436.6	+	23	2593	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	CLCN6_ENST00000376487.3_Silent_p.I825I|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	847	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGGGATCATCACACGGC	0.582													21	24					0	0	0	0	T	11900211	C	T	11900211	2	4	421	1	0	0	0	0	0	0	0	1	3497	816	29	2		2	CLCN6	1	11900211	Silent	SNP	C	TCGA-HD-8314-01A-11D-2394-08		11900211	237350410	1	83216											
ST3GAL3	6487	broad.mit.edu	37	chr1	44365307	44365307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcgccatgcagcggcctGagcagtacgagcgcgattct	8	6	15	12	5	1	1	0	1	1	0	1	3	1	1	2	2	5	3	2	2	1	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:44365307G>A	ENST00000262915.3	+	10	1036	c.859G>A	c.(859-861)Gag>Aag	p.E287K	ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.E187K|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E272K|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E287K|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E272K|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.E218K|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.E218K|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E256K|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.E187K|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.E233K|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.E218K|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.E218K|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.E202K|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E256K|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.E202K|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000335430.6_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	218					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAGCGGCCTGAGCAGTACGA	0.542													16	62					0	0	0	0	A	44365307	G	A	44365307	3	1	421	1	0	0	0	0	1	0	0	0	15306	1291	45	2	893	2	ST3GAL3	1	44365307	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	32465096	44365307	204885314	2	83217											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779675	76779675	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatggatacataaatgtgaaGacacaagaggtaagatccca	18	8	9	6	0	0	4	0	1	0	3	1	5	1	5	1	2	1	1	1	2	7	4	rs115264699	by1000genomes	TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:76779675G>C	ENST00000328299.3	+	2	352	c.204G>C	c.(202-204)aaG>aaC	p.K68N	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	68					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TAAATGTGAAGACACAAGAGG	0.458													9	27					0	0	0	0	C	76779675	G	C	76779675	3	2	421	1	0	0	0	0	1	0	0	0	15315	933	33	2	210	2	ST6GALNAC3	1	76779675	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	32414368	76779675	172470946	3	83218											
HFM1	164045	broad.mit.edu	37	chr1	91790285	91790285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaatttcttcactgtctCaaatgtaatataataccaag	17	14	3	7	0	3	0	2	0	2	0	4	0	3	0	1	0	1	1	1	0	8	7			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:91790285C>G	ENST00000370425.3	-	21	2472	c.2374G>C	c.(2374-2376)Gag>Cag	p.E792Q	HFM1_ENST00000294696.5_Missense_Mutation_p.E24Q|HFM1_ENST00000370424.3_Missense_Mutation_p.E471Q|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	792	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCACTGTCTCAAATGTAATA	0.313													3	13					0	0	0	0	G	91790285	C	G	91790285	3	3	421	1	0	0	0	0	1	0	0	0	7133	835	29	2	2009	2	HFM1	1	91790285	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	15010610	91790285	157460336	4	83219											
KIAA0907	22889	broad.mit.edu	37	chr1	155887350	155887350	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctgtgaatcgtctcttCtgtgcctggggctgacttgg	3	15	12	11	1	3	2	0	2	3	0	6	2	4	2	2	3	1	1	2	3	1	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:155887350C>T	ENST00000368320.3	-	11	1405	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q	KIAA0907_ENST00000368321.3_Silent_p.Q460Q			Q7Z7F0	K0907_HUMAN	KIAA0907	460										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ATCGTCTCTTCTGTGCCTGGG	0.537													14	147					0	0	0	0	T	155887350	C	T	155887350	2	4	421	1	0	0	0	0	0	0	0	1	8250	912	32	2		2	KIAA0907	1	155887350	Silent	SNP	C	TCGA-HD-8314-01A-11D-2394-08	64097065	155887350	93363271	5	83220											
TMCC2	9911	broad.mit.edu	37	chr1	205211155	205211155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcctggctgaggaggccGaaggcatcggggacaaggtg	9	5	17	10	2	0	1	0	1	0	0	2	4	1	3	3	7	0	2	3	7	2	0	rs148387041		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:205211155G>A	ENST00000358024.3	+	2	1119	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	TMCC2_ENST00000545499.1_Missense_Mutation_p.E166K|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	244				TALLLADGSNVYLLAEEAEGIGDK -> MNQVVQPLMSRHS ACRGSQAHLSW (in Ref. 6).		integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGAGGAGGCCGAAGGCATCGG	0.672													10	30					0	0	0	0	A	205211155	G	A	205211155	3	1	421	1	0	0	0	0	1	0	0	0	16087	1059	37	1	736	1	TMCC2	1	205211155	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	49323805	205211155	44039466	6	83221											
RYR2	6262	broad.mit.edu	37	chr1	237972270	237972270	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcattcaattttttcCgaaaattctacaataaaagt	14	15	6	6	1	2	0	1	0	1	0	3	1	3	0	1	2	1	1	1	2	7	7			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:237972270C>T	ENST00000366574.2	+	100	14685	c.14368C>T	c.(14368-14370)Cga>Tga	p.R4790*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4788R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTTTCCGAAAATTCTA	0.353													25	80					0	0	0	0	T	237972270	C	T	237972270	4	4	421	1	0	0	0	0	0	1	0	0	13854	644	23	1	14766	1	RYR2	1	237972270	Nonsense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	32761115	237972270	11278351	7	83222											
OR2M5	127059	broad.mit.edu	37	chr1	248308947	248308947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtagcgacattttccttCtcctactgtgggtctcggga	5	14	11	11	2	2	0	0	0	2	0	5	2	3	1	2	2	2	2	2	2	2	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:248308947C>G	ENST00000366476.1	+	1	498	c.498C>G	c.(496-498)ttC>ttG	p.F166L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATTTTCCTTCTCCTACTGTG	0.443													10	164					0	0	0	0	G	248308947	C	G	248308947	3	3	421	1	0	0	0	0	1	0	0	0	11084	912	32	2	500	2	OR2M5	1	248308947	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	10336677	248308947	941674	8	83223											
PRKCE	5581	broad.mit.edu	37	chr2	46070195	46070195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgatctctcagggtcgtcGggtgaaggtaggagagcgtg	8	9	17	7	4	2	2	1	1	1	1	6	4	2	2	0	4	1	1	0	4	2	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:46070195G>A	ENST00000306156.3	+	2	732	c.405G>A	c.(403-405)tcG>tcA	p.S135S	PRKCE_ENST00000467135.1_3'UTR	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	135					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGGGTCGTCGGGTGAAGGTA	0.483													46	106					0	0	0	0	A	46070195	G	A	46070195	2	1	421	1	0	0	0	0	0	0	0	1	12591	1103	39	1		1	PRKCE	2	46070195	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08		46070195	197129178	9	83224											
RGPD3	653489	broad.mit.edu	37	chr2	107041559	107041559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccacggcccttcttcCggccactaatatcctgagcc	8	9	6	18	2	2	1	1	1	1	0	4	1	4	1	6	2	1	0	6	2	2	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:107041559C>T	ENST00000409886.3	-	20	2951	c.2864G>A	c.(2863-2865)cGg>cAg	p.R955Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.R955Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	955					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCCTTCTTCCGGCCACTAAT	0.403													10	222					0	0	0	0	T	107041559	C	T	107041559	3	4	421	1	0	0	0	0	1	0	0	0	13369	652	23	1	2428	1	RGPD3	2	107041559	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	60971364	107041559	136157814	10	83225											
TTN	7273	broad.mit.edu	37	chr2	179454894	179454894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaggtccaccctcttttCtcggaccaatactttgcctt	9	14	5	13	1	2	0	0	0	2	0	4	1	3	1	4	2	2	0	4	2	4	6			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:179454894C>T	ENST00000589042.1	-	304	61782	c.61558G>A	c.(61558-61560)Gaa>Aaa	p.E20520K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11455K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18879K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17952K|TTN_ENST00000342175.6_Missense_Mutation_p.E11647K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11580K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18879	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTCTTTTCTCGGACCAAT	0.438													26	42					0	0	0	0	T	179454894	C	T	179454894	3	4	421	1	0	0	0	0	1	0	0	0	16831	922	32	2	46657	2	TTN	2	179454894	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	72413335	179454894	63744479	11	83226											
ANO7	50636	broad.mit.edu	37	chr2	242163156	242163156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagatcaaagtgaagcGggagtactacctggctaagc	12	8	14	7	1	1	2	1	1	0	1	1	4	1	3	1	3	4	2	1	3	5	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:242163156G>A	ENST00000274979.8	+	23	2757	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	885						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAAGTGAAGCGGGAGTACTAC	0.592													11	22					0	0	0	0	A	242163156	G	A	242163156	3	1	421	1	0	0	0	0	1	0	0	0	701	1116	39	1	2816	1	ANO7	2	242163156	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	62708262	242163156	1036217	12	83227											
CNTN6	27255	broad.mit.edu	37	chr3	1418744	1418744	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggaagtcggtctgaactCgtcattacgtgggaggtaat	10	10	15	6	3	2	1	1	1	1	0	4	4	2	4	0	5	2	1	0	5	4	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:1418744C>T	ENST00000446702.2	+	17	2778	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	CNTN6_ENST00000350110.2_Silent_p.L717L|CNTN6_ENST00000539053.1_Silent_p.L645L			Q9UQ52	CNTN6_HUMAN	contactin 6	717	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTCTGAACTCGTCATTACGT	0.378													22	53					0	0	0	0	T	1418744	C	T	1418744	2	4	421	1	0	0	0	0	0	0	0	1	3675	871	31	1		1	CNTN6	3	1418744	Silent	SNP	C	TCGA-HD-8314-01A-11D-2394-08		1418744	196603686	13	83228											
GRM7	2917	broad.mit.edu	37	chr3	7620617	7620617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttatgcagccctcttgaCgaaaacaaatcggatttatc	13	11	7	10	2	1	1	0	1	1	0	3	3	1	2	1	1	3	2	1	1	5	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:7620617C>T	ENST00000486284.1	+	8	2298	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	GRM7_ENST00000403881.1_Missense_Mutation_p.T675M|GRM7_ENST00000357716.4_Missense_Mutation_p.T675M|GRM7_ENST00000389336.4_Missense_Mutation_p.T675M|GRM7_ENST00000402647.2_Missense_Mutation_p.T675M|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCCCTCTTGACGAAAACAAAT	0.458													15	40					0	0	0	0	T	7620617	C	T	7620617	3	4	421	1	0	0	0	0	1	0	0	0	6852	536	19	1	2054	1	GRM7	3	7620617	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	6201873	7620617	190401813	14	83229											
ZNF385D	79750	broad.mit.edu	37	chr3	21465539	21465539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagcagctctgtctttgtgCcttctactgctaatgtgcta	6	15	8	12	0	3	0	0	0	3	0	3	0	3	0	2	0	6	4	2	0	3	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:21465539C>A	ENST00000281523.2	-	7	1388	c.870G>T	c.(868-870)agG>agT	p.R290S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	290						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGTCTTTGTGCCTTCTACTGC	0.398													13	43					9.05144e-12	9.86607e-12	1	0	A	21465539	C	A	21465539	3	1	421	1	0	0	0	0	1	0	0	0	17973	738	26	4	325	4	ZNF385D	3	21465539	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	13844922	21465539	176556891	15	83230											
ADAMTS9	56999	broad.mit.edu	37	chr3	64633635	64633635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccaggctcgcactccGtcccatcggcccagggtgtg	4	9	11	17	3	0	0	0	0	0	0	5	0	3	0	5	3	0	2	5	3	0	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:64633635G>A	ENST00000498707.1	-	11	2033	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T536M	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	564	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCGCACTCCGTCCCATCGGC	0.517													29	76					0	0	0	0	A	64633635	G	A	64633635	3	1	421	1	0	0	0	0	1	0	0	0	273	1145	40	1	4232	1	ADAMTS9	3	64633635	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	43168096	64633635	133388795	16	83231											
PROS1	5627	broad.mit.edu	37	chr3	93595847	93595847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtggccacttttgctttCattgctttgtccaagacggc	6	16	9	10	1	1	1	1	0	0	1	2	1	2	1	2	2	2	2	2	2	2	6			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:93595847C>T	ENST00000394236.3	-	14	2149	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	PROS1_ENST00000407433.1_Missense_Mutation_p.M480I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	611	Laminin G-like 2.		M -> K (in PROS1D).|M -> T (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTTTTGCTTTCATTGCTTTGT	0.378													19	102					0	0	0	0	T	93595847	C	T	93595847	3	4	421	1	0	0	0	0	1	0	0	0	12638	826	29	2	205	2	PROS1	3	93595847	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	28962212	93595847	104426583	17	83232											
CD200R1L	344807	broad.mit.edu	37	chr3	112545847	112545847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaggcgcttacctgaattCaactttacggacagactctt	12	11	7	11	2	2	2	1	1	1	1	2	3	2	3	1	2	4	1	1	2	5	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:112545847C>G	ENST00000488794.1	-	6	1198	c.609G>C	c.(607-609)ttG>ttC	p.L203F	CD200R1L_ENST00000398214.1_Missense_Mutation_p.L224F|CD200R1L_ENST00000448932.1_Missense_Mutation_p.L203F			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	224	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TACCTGAATTCAACTTTACGG	0.433													14	149					0	0	0	0	G	112545847	C	G	112545847	3	3	421	1	0	0	0	0	1	0	0	0	3011	825	29	2	155	2	CD200R1L	3	112545847	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	18950000	112545847	85476583	18	83233											
GOLGB1	2804	broad.mit.edu	37	chr3	121417477	121417477	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagactgctctcttcattTggcattaagggaaaatcttg	11	13	10	7	0	3	1	1	0	2	1	4	3	3	3	0	3	1	2	0	3	4	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:121417477T>G	ENST00000393667.3	-	13	2003	c.1893A>C	c.(1891-1893)ccA>ccC	p.P631P	GOLGB1_ENST00000340645.5_Silent_p.P626P	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	626					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCTTCATTTGGCATTAAGG	0.388													10	147					0	0	0	0	G	121417477	T	G	121417477	2	3	421	1	0	0	0	0	0	0	0	1	6613	1799	63	5		5	GOLGB1	3	121417477	Silent	SNP	T	TCGA-HD-8314-01A-11D-2394-08	8871630	121417477	76604953	19	83234											
PDIA5	10954	broad.mit.edu	37	chr3	122849361	122849361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccccaggtccctgagactCcctgggcagatgagggcggc	7	5	15	14	1	0	3	0	2	0	2	2	4	2	3	4	4	1	1	4	4	0	0			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:122849361C>T	ENST00000316218.7	+	11	903	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	270	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CCCTGAGACTCCCTGGGCAGA	0.592													13	133					0	0	0	0	T	122849361	C	T	122849361	3	4	421	1	0	0	0	0	1	0	0	0	11742	855	30	2	850	2	PDIA5	3	122849361	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	1431884	122849361	75173069	20	83235											
ATP2C1	27032	broad.mit.edu	37	chr3	130682857	130682857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggtctccccattgtggtCacagtgacgctagctcttgg	7	11	12	11	1	3	1	1	1	2	0	4	2	3	1	2	3	1	2	2	3	2	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:130682857C>T	ENST00000510168.1	+	13	1492	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ATP2C1_ENST00000533801.2_Silent_p.V309V|ATP2C1_ENST00000428331.2_Silent_p.V314V|ATP2C1_ENST00000508532.1_Silent_p.V314V|ATP2C1_ENST00000504948.1_Silent_p.V298V|ATP2C1_ENST00000393221.4_Silent_p.V348V|ATP2C1_ENST00000504381.1_Silent_p.V259V|ATP2C1_ENST00000505330.1_Silent_p.V298V|ATP2C1_ENST00000422190.2_Silent_p.V314V|ATP2C1_ENST00000328560.8_Silent_p.V314V|ATP2C1_ENST00000513801.1_Silent_p.V298V|ATP2C1_ENST00000359644.3_Silent_p.V314V|ATP2C1_ENST00000507488.2_Silent_p.V298V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	314					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CCATTGTGGTCACAGTGACGC	0.408									Hailey-Hailey disease				33	211					0	0	0	0	T	130682857	C	T	130682857	2	4	421	1	0	0	0	0	0	0	0	1	1147	813	29	2		2	ATP2C1	3	130682857	Silent	SNP	C	TCGA-HD-8314-01A-11D-2394-08	7833496	130682857	67339573	21	83236											
RASA2	5922	broad.mit.edu	37	chr3	141327388	141327388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggcaaataactgtgtaGaagctaatgaatggatagac	16	9	10	6	0	0	3	0	1	0	2	1	4	1	4	1	2	2	3	1	2	7	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:141327388G>A	ENST00000286364.3	+	21	2109	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.E693K			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	692	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TAACTGTGTAGAAGCTAATGA	0.403													13	109					0	0	0	0	A	141327388	G	A	141327388	3	1	421	1	0	0	0	0	1	0	0	0	13143	943	33	2	2156	2	RASA2	3	141327388	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	10644531	141327388	56695042	22	83237											
WWTR1	25937	broad.mit.edu	37	chr3	149243913	149243913	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcgaatgatatggccctCtgcaaagcaaaagatgaaga	15	7	9	10	1	1	4	0	2	1	2	2	5	1	4	2	1	2	2	2	1	6	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:149243913C>T	ENST00000465804.1	-	7	1162		c.e7-1		WWTR1_ENST00000360632.3_Splice_Site|WWTR1_ENST00000467467.1_Splice_Site	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1						hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATATGGCCCTCTGCAAAGCAA	0.458			T	CAMTA1	epitheliod hemangioendothelioma								23	76					0	0	0	0	T	149243913	C	T	149243913	5	4	421	1	0	0	0	0	0	0	1	0	17513	927	32	2	305	2	WWTR1	3	149243913	Splice_Site	SNP	C	TCGA-HD-8314-01A-11D-2394-08	7916525	149243913	48778517	23	83238											
IGSF10	285313	broad.mit.edu	37	chr3	151165650	151165650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggtgtgttttccaacctCagcctccatcagagcagatg	9	11	10	11	0	2	3	2	1	0	2	4	3	4	3	4	1	3	2	4	1	1	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:151165650C>T	ENST00000282466.3	-	4	2118	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	707					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCCAACCTCAGCCTCCATC	0.483													18	78					0	0	0	0	T	151165650	C	T	151165650	3	4	421	1	0	0	0	0	1	0	0	0	7650	835	29	2	5812	2	IGSF10	3	151165650	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	1921737	151165650	46856780	24	83239											
WDR49	151790	broad.mit.edu	37	chr3	167278011	167278011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagaccctgtatcagagctGattacctaagagaaaataac	16	9	8	8	0	1	4	1	1	0	3	1	5	1	4	2	0	3	3	2	0	7	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:167278011G>A	ENST00000308378.3	-	5	797	c.492C>T	c.(490-492)atC>atT	p.I164I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_5'UTR|WDR49_ENST00000453925.2_Silent_p.I217I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	164										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATCAGAGCTGATTACCTAAG	0.368													14	75					0	0	0	0	A	167278011	G	A	167278011	2	1	421	1	0	0	0	0	0	0	0	1	17398	1280	45	2		2	WDR49	3	167278011	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08	16112361	167278011	30744419	25	83240											
WDFY3	23001	broad.mit.edu	37	chr4	85741276	85741276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgaagaagcactgtcaagGtctccataaccaataaagcc	15	8	7	11	0	2	2	1	1	1	1	3	2	2	2	3	1	3	1	3	1	7	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:85741276G>C	ENST00000322366.6	-	12	2062	c.1655C>G	c.(1654-1656)aCc>aGc	p.T552S	WDFY3_ENST00000295888.4_Missense_Mutation_p.T552S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	552						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CACTGTCAAGGTCTCCATAAC	0.368													48	122					0	0	0	0	C	85741276	G	C	85741276	3	2	421	1	0	0	0	0	1	0	0	0	17366	1261	44	4	9196	4	WDFY3	4	85741276	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08		85741276	105413000	26	83241											
INPP4B	8821	broad.mit.edu	37	chr4	143094792	143094792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggatcttactttttctGaaagcatctttaaagaattc	12	18	5	6	0	3	2	0	1	3	1	4	3	3	3	0	1	2	1	0	1	5	7			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:143094792G>A	ENST00000513000.1	-	17	1785	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	INPP4B_ENST00000508116.1_Missense_Mutation_p.S451L|INPP4B_ENST00000509777.1_Missense_Mutation_p.S451L|INPP4B_ENST00000262992.4_Missense_Mutation_p.S451L|INPP4B_ENST00000308502.4_Missense_Mutation_p.S451L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	451					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACTTTTTCTGAAAGCATCTT	0.388													15	42					0	0	0	0	A	143094792	G	A	143094792	3	1	421	1	0	0	0	0	1	0	0	0	7806	1294	45	2	1466	2	INPP4B	4	143094792	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	57353516	143094792	48059484	27	83242											
FAM198B	51313	broad.mit.edu	37	chr4	159091713	159091713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacctcactcatgtccAagggctgcttgagaagccca	12	7	8	14	0	2	1	2	1	0	1	3	2	3	1	3	1	3	2	3	1	3	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:159091713A>G	ENST00000296530.8	-	2	1436	c.815T>C	c.(814-816)tTg>tCg	p.L272S	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Missense_Mutation_p.L272S|FAM198B_ENST00000393807.5_Missense_Mutation_p.L272S|FAM198B_ENST00000592057.1_Missense_Mutation_p.L272S	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	272						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ACTCATGTCCAAGGGCTGCTT	0.617											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	40					0	0	0	0	G	159091713	A	G	159091713	3	3	421	1	0	0	0	0	1	0	0	0	5572	131	5	5	865	5	FAM198B	4	159091713	Missense_Mutation	SNP	A	TCGA-HD-8314-01A-11D-2394-08	15996921	159091713	32062563	28	83243											
MAP1B	4131	broad.mit.edu	37	chr5	71411527	71411527	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctttccctccctaggaAtccgatcatgggacacaaac	10	11	6	14	1	2	0	1	0	1	0	5	3	5	2	3	2	1	0	3	2	3	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:71411527A>C	ENST00000296755.7	+	2	485	c.187A>C	c.(187-189)Atc>Ctc	p.I63L	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	63						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCCCTAGGAATCCGATCATG	0.443													23	36					0	0	0	0	C	71411527	A	C	71411527	3	2	421	1	0	0	0	0	1	0	0	0	9297	101	4	5	193	5	MAP1B	5	71411527	Missense_Mutation	SNP	A	TCGA-HD-8314-01A-11D-2394-08		71411527	109503733	29	83244											
REEP2	51308	broad.mit.edu	37	chr5	137780952	137780952	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagaagctccgcagcttCagcatgcaggacctgaccct	10	7	10	14	1	2	2	2	1	0	1	3	4	3	3	3	1	4	5	3	1	1	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:137780952C>T	ENST00000378339.2	+	6	645	c.453C>T	c.(451-453)ttC>ttT	p.F151F	REEP2_ENST00000254901.5_Silent_p.F149F|REEP2_ENST00000506158.1_Silent_p.F111F	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	149						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCGCAGCTTCAGCATGCAGG	0.692													23	46					0	0	0	0	T	137780952	C	T	137780952	2	4	421	1	0	0	0	0	0	0	0	1	13287	825	29	2		2	REEP2	5	137780952	Silent	SNP	C	TCGA-HD-8314-01A-11D-2394-08	66369425	137780952	43134308	30	83245											
WDR55	54853	broad.mit.edu	37	chr5	140044531	140044531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaggagaggcccgctgagGatgggagcgacgaggaggac	10	3	21	7	3	0	3	0	2	0	1	0	10	0	7	1	6	1	1	1	6	0	0			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:140044531G>A	ENST00000358337.5	+	1	271	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	12					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTGAGGATGGGAGCGA	0.667													3	18					0	0	0	0	A	140044531	G	A	140044531	3	1	421	1	0	0	0	0	1	0	0	0	17403	1174	41	2	36	2	WDR55	5	140044531	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	2263579	140044531	40870729	31	83246											
PCDHA5	56143	broad.mit.edu	37	chr5	140202157	140202157	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttattaaactgaacgcctCagatgcagatgagggcatca	14	9	10	8	1	2	4	2	2	0	2	2	4	2	4	1	1	3	3	1	1	4	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:140202157C>G	ENST00000529859.1	+	1	797	c.797C>G	c.(796-798)tCa>tGa	p.S266*	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.S266*|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.S266*	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACGCCTCAGATGCAGAT	0.333													13	42					0	0	0	0	G	140202157	C	G	140202157	4	3	421	1	0	0	0	0	0	1	0	0	11598	838	29	2	799	2	PCDHA5	5	140202157	Nonsense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	157626	140202157	40713103	32	83247											
SYNPO	11346	broad.mit.edu	37	chr5	150029326	150029326	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggagaaatatgtcatcGagtcttcaagccacacgcca	13	8	10	10	2	3	1	2	0	1	1	4	4	3	2	2	2	1	0	2	2	3	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:150029326G>T	ENST00000394243.1	+	3	2595	c.2221G>T	c.(2221-2223)Gag>Tag	p.E741*	SYNPO_ENST00000307662.4_Nonsense_Mutation_p.E497*|SYNPO_ENST00000519664.1_Nonsense_Mutation_p.E497*|SYNPO_ENST00000522122.1_Nonsense_Mutation_p.E741*	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	741					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATGTCATCGAGTCTTCAAG	0.622													28	50					1.39806e-14	1.57101e-14	1	0	T	150029326	G	T	150029326	4	4	421	1	0	0	0	0	0	1	0	0	15547	1059	37	3	2227	3	SYNPO	5	150029326	Nonsense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	9827169	150029326	30885934	33	83248											
OPN5	221391	broad.mit.edu	37	chr6	47754305	47754305	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacatgtcttctagacgaaAgaagaagctgagacccgctg	13	9	10	9	2	2	4	0	1	2	4	2	6	2	4	1	0	2	2	1	0	5	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:47754305A>G	ENST00000489301.2	+	2	270	c.185A>G	c.(184-186)aAg>aGg	p.K62R	OPN5_ENST00000371211.2_Missense_Mutation_p.K62R|OPN5_ENST00000393699.2_Missense_Mutation_p.K62R			Q6U736	OPN5_HUMAN	opsin 5	62					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTAGACGAAAGAAGAAGCTG	0.373													3	28					0	0	0	0	G	47754305	A	G	47754305	3	3	421	1	0	0	0	0	1	0	0	0	10954	72	3	5	191	5	OPN5	6	47754305	Missense_Mutation	SNP	A	TCGA-HD-8314-01A-11D-2394-08		47754305	123360762	34	83249											
IGF2R	3482	broad.mit.edu	37	chr6	160500709	160500709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaggagtctgtctgctctCaggcaccaagggggcatcct	7	8	14	12	1	3	0	1	0	3	0	5	2	4	2	2	5	1	3	2	5	1	0			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:160500709C>T	ENST00000356956.1	+	38	5724	c.5576C>T	c.(5575-5577)tCa>tTa	p.S1859L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1859					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGTCTGCTCTCAGGCACCAAG	0.557													11	39					0	0	0	0	T	160500709	C	T	160500709	3	4	421	1	0	0	0	0	1	0	0	0	7629	838	29	2	5726	2	IGF2R	6	160500709	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	112746404	160500709	10614358	35	83250											
MLLT4	4301	broad.mit.edu	37	chr6	168265244	168265244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttaggatttggagttccAtggagtgatgagattttatt	9	18	11	3	0	0	2	0	2	0	1	1	6	1	5	1	3	0	1	1	3	2	7			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:168265244A>G	ENST00000366806.2	+	2	261	c.119A>G	c.(118-120)cAt>cGt	p.H40R	MLLT4_ENST00000351017.4_Missense_Mutation_p.H40R|MLLT4_ENST00000400822.3_Missense_Mutation_p.H40R|MLLT4_ENST00000392108.3_Missense_Mutation_p.H40R|MLLT4_ENST00000392112.1_Missense_Mutation_p.H40R|MLLT4_ENST00000447894.2_Missense_Mutation_p.H40R|MLLT4_ENST00000344191.4_Missense_Mutation_p.H40R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	40	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGGAGTTCCATGGAGTGATG	0.338			T	MLL	AL								57	122					0	0	0	0	G	168265244	A	G	168265244	3	3	421	1	0	0	0	0	1	0	0	0	9698	217	8	5	125	5	MLLT4	6	168265244	Missense_Mutation	SNP	A	TCGA-HD-8314-01A-11D-2394-08	7764535	168265244	2849823	36	83251											
ZNF713	349075	broad.mit.edu	37	chr7	56006940	56006940	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcagaaaactgtaatctGaactcaaaccttatgcagca	15	11	6	9	0	2	2	1	1	1	1	2	2	2	2	1	0	6	4	1	0	6	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr7:56006940G>A	ENST00000429591.2	+	4	572	c.534G>A	c.(532-534)ctG>ctA	p.L178L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTGTAATCTGAACTCAAACC	0.363													15	25					0	0	0	0	A	56006940	G	A	56006940	2	1	421	1	0	0	0	0	0	0	0	1	18212	1277	45	2		2	ZNF713	7	56006940	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08		56006940	103131723	37	83252											
FLNC	2318	broad.mit.edu	37	chr7	128482910	128482910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgcagaggctgacattGacttcgacatcatcaagaat	12	9	9	11	1	2	4	2	2	0	2	3	5	2	4	1	1	1	2	1	1	2	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr7:128482910G>A	ENST00000325888.8	+	16	2713	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	FLNC_ENST00000346177.6_Missense_Mutation_p.D818N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	818					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCTGACATTGACTTCGACAT	0.602													12	34					0	0	0	0	A	128482910	G	A	128482910	3	1	421	1	0	0	0	0	1	0	0	0	5980	1290	45	2	2514	2	FLNC	7	128482910	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	72475970	128482910	30655753	38	83253											
FAM135B	51059	broad.mit.edu	37	chr8	139190891	139190891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgtgagccaggccagatCcttgcttatctgctcagcga	8	9	12	12	2	2	2	1	1	1	1	3	4	3	3	3	2	4	2	3	2	1	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr8:139190891C>A	ENST00000395297.1	-	10	1086	c.916G>T	c.(916-918)Gat>Tat	p.D306Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	306								p.D306N(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)			CAGGCCAGATCCTTGCTTATC	0.512										HNSCC(54;0.14)			23	38					3.5997e-14	4.00375e-14	1	0	A	139190891	C	A	139190891	3	1	421	1	0	0	0	0	1	0	0	0	5490	855	30	2	3348	2	FAM135B	8	139190891	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08		139190891	7173131	39	83254											
ABCA1	19	broad.mit.edu	37	chr9	107562201	107562201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccttttgcaggttggcccgGagaatggcattgttgatgac	7	12	13	9	1	0	3	0	2	0	1	0	4	0	3	2	4	1	4	2	4	1	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr9:107562201G>A	ENST00000374736.3	-	36	5236	c.4842C>T	c.(4840-4842)ctC>ctT	p.L1614L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1614					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTTGGCCCGGAGAATGGCAT	0.473													24	68					0	0	0	0	A	107562201	G	A	107562201	2	1	421	1	0	0	0	0	0	0	0	1	28	1161	41	2		2	ABCA1	9	107562201	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08		107562201	33651230	40	83255											
STOM	2040	broad.mit.edu	37	chr9	124111399	124111399	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgacgtactccccaccTgcatgttgtgtgcaatttct	7	14	8	12	1	1	1	0	1	1	0	2	1	2	1	3	0	3	5	3	0	2	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr9:124111399T>A	ENST00000286713.2	-	5	541	c.525_splice	c.e5+1	p.Q175_splice	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Splice_Site_p.Q124_splice	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	175					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		ACTCCCCACCTGCATGTTGTG	0.448													3	30					0	0	0	0	A	124111399	T	A	124111399	5	1	421	1	0	0	0	0	0	0	1	0	15402	1594	55	5	354	5	STOM	9	124111399	Splice_Site	SNP	T	TCGA-HD-8314-01A-11D-2394-08	16549198	124111399	17102032	41	83256											
GDF2	2658	broad.mit.edu	37	chr10	48416492	48416492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactcaggttaaggctgcGcaggaaatccaccttcacgt	10	8	9	14	2	2	0	2	0	0	0	3	1	3	1	3	3	1	3	3	3	2	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:48416492G>A	ENST00000249598.1	-	1	361	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	68					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.R68C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTAAGGCTGCGCAGGAAATCC	0.577													17	52					0	0	0	0	A	48416492	G	A	48416492	3	1	421	1	0	0	0	0	1	0	0	0	6365	1087	38	1	1095	1	GDF2	10	48416492	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08		48416492	87118255	42	83257											
ATRNL1	26033	broad.mit.edu	37	chr10	117045776	117045776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggatgcttgtcttagaGtcaattccagtagagaaaac	12	12	11	6	0	2	2	1	0	1	2	3	4	3	3	1	2	2	2	1	2	5	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:117045776G>C	ENST00000355044.3	+	15	2410	c.2284G>C	c.(2284-2286)Gtc>Ctc	p.V762L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	762	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTCTTAGAGTCAATTCCAG	0.328													7	21					0	0	0	0	C	117045776	G	C	117045776	3	2	421	1	0	0	0	0	1	0	0	0	1211	1029	36	4	2342	4	ATRNL1	10	117045776	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	68629284	117045776	18488971	43	83258											
MKI67	4288	broad.mit.edu	37	chr10	129904445	129904445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgctaaaaattcttcctCtacgtctgctttcttgaggc	9	15	7	10	1	4	1	0	1	4	0	5	2	5	1	1	1	3	2	1	1	5	6			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:129904445C>T	ENST00000368654.3	-	13	6034	c.5659G>A	c.(5659-5661)Gag>Aag	p.E1887K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1527K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1887	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AATTCTTCCTCTACGTCTGCT	0.458													70	193					0	0	0	0	T	129904445	C	T	129904445	3	4	421	1	0	0	0	0	1	0	0	0	9667	922	32	2	4123	2	MKI67	10	129904445	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	12858669	129904445	5630302	44	83259											
TRIM68	55128	broad.mit.edu	37	chr11	4626317	4626317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccatctctcaccttgtactCccaggcaacatcctccattg	8	12	4	17	0	2	0	1	0	1	0	7	0	6	0	5	1	2	2	5	1	2	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:4626317C>G	ENST00000300747.5	-	2	707	c.418G>C	c.(418-420)Gag>Cag	p.E140Q		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	140					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACCTTGTACTCCCAGGCAACA	0.547													16	24					0	0	0	0	G	4626317	C	G	4626317	3	3	421	1	0	0	0	0	1	0	0	0	16636	864	30	2	1063	2	TRIM68	11	4626317	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08		4626317	130380199	45	83260											
STX5	6811	broad.mit.edu	37	chr11	62592578	62592578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctctccggctcctctgCtgcttcaggttctggggttg	1	15	12	13	1	4	0	1	0	3	0	7	0	6	0	2	4	3	6	2	4	0	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:62592578C>A	ENST00000294179.3	-	8	762	c.609G>T	c.(607-609)caG>caT	p.Q203H	STX5_ENST00000541317.1_Missense_Mutation_p.Q107H|STX5_ENST00000377897.4_Missense_Mutation_p.Q203H|STX5_ENST00000394690.1_Missense_Mutation_p.Q149H	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	203					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GGCTCCTCTGCTGCTTCAGGT	0.582													12	46					6.40141e-05	6.77431e-05	1	0	A	62592578	C	A	62592578	3	1	421	1	0	0	0	0	1	0	0	0	15438	796	28	4	474	4	STX5	11	62592578	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	57966261	62592578	72413938	46	83261											
APLP2	334	broad.mit.edu	37	chr11	129999057	129999057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaatgaccgccgtcggatgGctctggagaactacctggct	8	9	13	11	3	1	3	0	2	1	1	2	5	1	4	3	4	2	2	3	4	3	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:129999057G>T	ENST00000263574.5	+	10	1483	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S	APLP2_ENST00000539648.1_Missense_Mutation_p.A259S|APLP2_ENST00000543137.1_Missense_Mutation_p.A378S|APLP2_ENST00000528499.1_Missense_Mutation_p.A415S|APLP2_ENST00000338167.5_Missense_Mutation_p.A471S|APLP2_ENST00000278756.7_Missense_Mutation_p.A481S|APLP2_ENST00000345598.5_Missense_Mutation_p.A242S	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	471					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCGTCGGATGGCTCTGGAGAA	0.592													28	36					6.32553e-13	6.96447e-13	1	0	T	129999057	G	T	129999057	3	4	421	1	0	0	0	0	1	0	0	0	781	1203	42	4	1449	4	APLP2	11	129999057	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	67406479	129999057	5007459	47	83262											
LRP6	4040	broad.mit.edu	37	chr12	12283759	12283759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcactgcaatccacattatGatcacacttcttgtgctttc	9	15	5	12	0	3	1	2	1	1	0	5	1	4	1	1	0	2	2	1	0	2	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:12283759G>C	ENST00000261349.4	-	19	4115	c.4039C>G	c.(4039-4041)Cat>Gat	p.H1347D	LRP6_ENST00000543091.1_Missense_Mutation_p.H1302D|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1347	LDL-receptor class A 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCACATTATGATCACACTTC	0.333													6	15					0	0	0	0	C	12283759	G	C	12283759	3	2	421	1	0	0	0	0	1	0	0	0	9026	1290	45	2	822	2	LRP6	12	12283759	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08		12283759	121568136	48	83263											
SLC17A8	246213	broad.mit.edu	37	chr12	100797904	100797904	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattatttaagaagcagacAaattttaaccacaactgctg	16	12	6	7	0	0	3	0	1	0	2	0	3	0	3	1	0	4	2	1	0	6	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:100797904A>C	ENST00000323346.5	+	9	1455	c.1142A>C	c.(1141-1143)cAa>cCa	p.Q381P	SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q331P	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	381					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGAAGCAGACAAATTTTAACC	0.413													14	21					0	0	0	0	C	100797904	A	C	100797904	3	2	421	1	0	0	0	0	1	0	0	0	14511	130	5	5	1176	5	SLC17A8	12	100797904	Missense_Mutation	SNP	A	TCGA-HD-8314-01A-11D-2394-08	88514145	100797904	33053991	49	83264											
HSP90B1	7184	broad.mit.edu	37	chr12	104337073	104337073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctctgctgaattggatGaaagataaagcccttaagga	14	9	11	7	0	1	3	0	2	1	1	1	6	1	5	2	2	3	1	2	2	5	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:104337073G>T	ENST00000299767.5	+	13	2048	c.1866G>T	c.(1864-1866)atG>atT	p.M622I		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	622					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TGAATTGGATGAAAGATAAAG	0.363													4	29					0.014758	0.0151757	1	0	T	104337073	G	T	104337073	3	4	421	1	0	0	0	0	1	0	0	0	7455	1290	45	2	1916	2	HSP90B1	12	104337073	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	3539169	104337073	29514822	50	83265											
NUPL1	9818	broad.mit.edu	37	chr13	25887887	25887887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtacaaacacaggaacatCaggtaattgatggtatttat	16	11	9	5	0	1	1	1	1	0	0	1	3	1	2	0	3	3	3	0	3	6	6			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:25887887C>T	ENST00000463407.1	+	5	715	c.572C>T	c.(571-573)tCa>tTa	p.S191L	NUPL1_ENST00000381736.3_Missense_Mutation_p.S191L|NUPL1_ENST00000381718.3_Missense_Mutation_p.S179L|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	191	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACAGGAACATCAGGTAATTGA	0.363													11	28					0	0	0	0	T	25887887	C	T	25887887	3	4	421	1	0	0	0	0	1	0	0	0	10845	838	29	2	590	2	NUPL1	13	25887887	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08		25887887	89281991	51	83266											
STARD13	90627	broad.mit.edu	37	chr13	33703785	33703785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttcaggcagggcgtgctCaccccgctgctgctgtgctc	3	10	12	16	2	2	0	2	0	0	0	4	0	3	0	3	2	4	6	3	2	0	1	rs143999176		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:33703785C>T	ENST00000336934.5	-	5	1145	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	STARD13_ENST00000399365.3_Silent_p.V225V|STARD13_ENST00000255486.4_Silent_p.V335V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	343					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGGCGTGCTCACCCCGCTGC	0.647													4	46					0	0	0	0	T	33703785	C	T	33703785	2	4	421	1	0	0	0	0	0	0	0	1	15346	813	29	2		2	STARD13	13	33703785	Silent	SNP	C	TCGA-HD-8314-01A-11D-2394-08	7815898	33703785	81466093	52	83267											
RAB20	55647	broad.mit.edu	37	chr13	111176513	111176513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggccgccccccggcagtaCatggagcccaggccgtggaa	7	3	15	16	4	0	0	0	0	0	0	0	2	0	2	6	5	2	2	6	5	2	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:111176513C>T	ENST00000267328.3	-	2	417	c.204G>A	c.(202-204)atG>atA	p.M68I		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	68					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCCGGCAGTACATGGAGCCCA	0.612													8	66					0	0	0	0	T	111176513	C	T	111176513	3	4	421	1	0	0	0	0	1	0	0	0	12989	478	17	4	504	4	RAB20	13	111176513	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	77472728	111176513	3993365	53	83268											
FAM179B	23116	broad.mit.edu	37	chr14	45512902	45512902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatagggagaagaaaattGagggactgaattttattaga	16	11	11	3	0	1	5	1	2	0	3	1	7	1	6	0	2	0	0	0	2	7	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr14:45512902G>A	ENST00000361462.2	+	12	4009	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.E1276K			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1276							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGAAAATTGAGGGACTGAA	0.343													13	16					0	0	0	0	A	45512902	G	A	45512902	3	1	421	1	0	0	0	0	1	0	0	0	5547	1291	45	2	3872	2	FAM179B	14	45512902	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08		45512902	61836638	54	83269											
C2CD4A	145741	broad.mit.edu	37	chr15	62360020	62360020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctccggaattcttgggtcGaagaagcagggatggacgag	10	7	16	8	4	1	1	0	0	1	1	3	6	2	4	1	4	1	2	1	4	3	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr15:62360020G>A	ENST00000355522.5	+	2	349	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	70						nucleus											TTCTTGGGTCGAAGAAGCAGG	0.692													5	17					0	0	0	0	A	62360020	G	A	62360020	3	1	421	1	0	0	0	0	1	0	0	0	2175	1059	37	1	210	1	C2CD4A	15	62360020	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08		62360020	40171372	55	83270											
TLN2	83660	broad.mit.edu	37	chr15	63073360	63073360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgaaggcactcctccaGaaccaaagggaacatttgtc	13	8	10	10	0	0	2	0	1	0	1	3	4	2	4	3	3	2	1	3	3	4	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr15:63073360G>A	ENST00000561311.1	+	43	5766	c.5536G>A	c.(5536-5538)Gaa>Aaa	p.E1846K	TLN2_ENST00000472902.1_Missense_Mutation_p.E239K|TLN2_ENST00000306829.6_Missense_Mutation_p.E1846K			Q9Y4G6	TLN2_HUMAN	talin 2	1846					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACTCCTCCAGAACCAAAGGG	0.458													9	26					0	0	0	0	A	63073360	G	A	63073360	3	1	421	1	0	0	0	0	1	0	0	0	16042	943	33	2	5698	2	TLN2	15	63073360	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	713340	63073360	39458032	56	83271											
ZNF267	10308	broad.mit.edu	37	chr16	31896534	31896534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttggaacaaaggaaagaGccttggaatgtgaagagtga	15	10	13	3	0	0	4	0	2	0	2	0	7	0	7	1	3	2	0	1	3	5	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr16:31896534G>A	ENST00000300870.10	+	3	392	c.183G>A	c.(181-183)gaG>gaA	p.E61E	ZNF267_ENST00000394846.3_Silent_p.E61E	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	61	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGGAAAGAGCCTTGGAATG	0.448													5	18					0	0	0	0	A	31896534	G	A	31896534	2	1	421	1	0	0	0	0	0	0	0	1	17901	962	34	4		4	ZNF267	16	31896534	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08		31896534	58458219	57	83272											
SERPINF1	5176	broad.mit.edu	37	chr17	1673237	1673237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caagctggcagcggctgtctCcaacttcggctatgacctgt	7	10	11	13	2	1	1	0	1	1	0	3	1	1	1	2	3	3	4	2	3	3	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:1673237C>G	ENST00000254722.4	+	3	339	c.176C>G	c.(175-177)tCc>tGc	p.S59C	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	59					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCGGCTGTCTCCAACTTCGGC	0.647													42	84					0	0	0	0	G	1673237	C	G	1673237	3	3	421	1	0	0	0	0	1	0	0	0	14201	855	30	2	182	2	SERPINF1	17	1673237	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08		1673237	79521973	58	83273											
KDM6B	23135	broad.mit.edu	37	chr17	7752801	7752801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccagcccacacccccGtcagcctctgtccctggaaa	7	7	7	20	1	3	0	1	0	2	0	4	1	4	1	6	1	3	0	6	1	1	0			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:7752801G>A	ENST00000254846.5	+	11	3584	c.3195G>A	c.(3193-3195)ccG>ccA	p.P1065P	KDM6B_ENST00000448097.2_Silent_p.P1065P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1065	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P1065P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCACACCCCCGTCAGCCTCTG	0.677													6	24					0	0	0	0	A	7752801	G	A	7752801	2	1	421	1	0	0	0	0	0	0	0	1	8190	1132	40	1		1	KDM6B	17	7752801	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08	6079564	7752801	73442409	59	83274											
MYH1	4619	broad.mit.edu	37	chr17	10399728	10399728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtgtgctctgcatggactCcacgattctaatgtggtttc	7	14	10	10	1	2	0	0	0	2	0	4	2	3	1	1	2	2	3	1	2	1	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:10399728C>G	ENST00000226207.5	-	34	4889	c.4795G>C	c.(4795-4797)Gag>Cag	p.E1599Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1599						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCATGGACTCCACGATTCTA	0.443													28	101					0	0	0	0	G	10399728	C	G	10399728	3	3	421	1	0	0	0	0	1	0	0	0	10099	864	30	2	1052	2	MYH1	17	10399728	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	2646927	10399728	70795482	60	83275											
LRRC37B	114659	broad.mit.edu	37	chr17	30348398	30348398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgattacctggggccctCtgcttcttcgcagatgtcag	5	14	10	12	1	3	2	1	1	2	1	4	2	3	2	2	2	2	2	2	2	1	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:30348398C>T	ENST00000327564.7	+	1	375	c.314C>T	c.(313-315)tCt>tTt	p.S105F	LRRC37B_ENST00000394713.3_Missense_Mutation_p.S78F|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S78F|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S90F			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	78						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTGGGGCCCTCTGCTTCTTCG	0.602													12	107					0	0	0	0	T	30348398	C	T	30348398	3	4	421	1	0	0	0	0	1	0	0	0	9058	913	32	2	235	2	LRRC37B	17	30348398	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	19948670	30348398	50846812	61	83276											
LRRC37B	114659	broad.mit.edu	37	chr17	30348998	30348998	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgaagacatccagtcctCttcactccaggaagaagccc	11	8	7	15	0	2	3	1	1	1	2	5	4	5	4	5	1	1	0	5	1	3	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:30348998C>G	ENST00000327564.7	+	1	975	c.914C>G	c.(913-915)tCt>tGt	p.S305C	LRRC37B_ENST00000394713.3_Missense_Mutation_p.S278C|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S278C|LRRC37B_ENST00000543378.2_Missense_Mutation_p.S196C|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S290C			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	278						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATCCAGTCCTCTTCACTCCAG	0.552													9	123					0	0	0	0	G	30348998	C	G	30348998	3	3	421	1	0	0	0	0	1	0	0	0	9058	913	32	2	835	2	LRRC37B	17	30348998	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	600	30348998	50846212	62	83277											
STAT3	6774	broad.mit.edu	37	chr17	40476788	40476788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagtcctcgcttggtggtgGaggagaactgccagctcagg	7	9	15	10	1	2	1	2	0	0	1	4	3	3	2	2	5	3	2	2	5	1	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:40476788G>T	ENST00000264657.5	-	17	1853	c.1541C>A	c.(1540-1542)tCc>tAc	p.S514Y	STAT3_ENST00000585517.1_Missense_Mutation_p.S514Y|STAT3_ENST00000404395.3_Missense_Mutation_p.S514Y|STAT3_ENST00000588969.1_Missense_Mutation_p.S514Y|STAT3_ENST00000389272.3_Missense_Mutation_p.S416Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	514					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTGGTGGTGGAGGAGAACTG	0.542									Hyperimmunoglobulin E Recurrent Infection Syndrome				13	38					9.31168e-06	1.00492e-05	1	0	T	40476788	G	T	40476788	3	4	421	1	0	0	0	0	1	0	0	0	15356	1174	41	2	803	2	STAT3	17	40476788	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	10127790	40476788	40718422	63	83278											
CHAD	1101	broad.mit.edu	37	chr17	48545767	48545767	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacccccggggcagctcAgtgaccttgttgtggtccag	7	8	13	13	1	1	1	1	1	0	0	2	1	2	1	4	3	3	4	4	3	1	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:48545767A>C	ENST00000508540.1	-	1	560	c.408T>G	c.(406-408)acT>acG	p.T136T	ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Silent_p.T136T|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	136					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGGCAGCTCAGTGACCTTGT	0.607													23	85					0	0	0	0	C	48545767	A	C	48545767	2	2	421	1	0	0	0	0	0	0	0	1	3339	175	7	5		5	CHAD	17	48545767	Silent	SNP	A	TCGA-HD-8314-01A-11D-2394-08	8068979	48545767	32649443	64	83279											
CA10	56934	broad.mit.edu	37	chr17	49731041	49731041	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaccaatccatttggactCtttgcagcttctgtgacatt	9	14	6	12	0	2	1	0	1	2	0	3	2	3	2	3	1	2	2	3	1	1	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:49731041C>G	ENST00000451037.2	-	5	1462	c.522G>C	c.(520-522)aaG>aaC	p.K174N	CA10_ENST00000285273.4_Missense_Mutation_p.K174N|CA10_ENST00000442502.2_Missense_Mutation_p.K174N|CA10_ENST00000340813.6_Missense_Mutation_p.K180N|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.K99N	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	174					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CATTTGGACTCTTTGCAGCTT	0.388													8	33					0	0	0	0	G	49731041	C	G	49731041	3	3	421	1	0	0	0	0	1	0	0	0	2536	912	32	2	484	2	CA10	17	49731041	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	1185274	49731041	31464169	65	83280											
PRKCA	5578	broad.mit.edu	37	chr17	64783033	64783033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctatttcagtctatcatgGagcacaacgtttcctatcca	11	13	6	11	1	3	0	2	0	1	0	5	1	5	1	2	1	3	3	2	1	4	5			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:64783033G>C	ENST00000413366.3	+	15	1680	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	552	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GTCTATCATGGAGCACAACGT	0.413													12	42					0	0	0	0	C	64783033	G	C	64783033	3	2	421	1	0	0	0	0	1	0	0	0	12587	1175	41	2	1712	2	PRKCA	17	64783033	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	15051992	64783033	16412177	66	83281											
AP3D1	8943	broad.mit.edu	37	chr19	2120904	2120904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcggcagcgtacagcacctCacagatcccgttccgctggg	7	6	13	15	4	1	1	1	0	0	1	3	1	3	1	3	3	3	5	3	3	1	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:2120904C>G	ENST00000355272.6	-	14	1644	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	AP3D1_ENST00000350812.6_Missense_Mutation_p.E311Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E389Q|AP3D1_ENST00000345016.5_Missense_Mutation_p.E480Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	480					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TACAGCACCTCACAGATCCCG	0.647													4	51					0	0	0	0	G	2120904	C	G	2120904	3	3	421	1	0	0	0	0	1	0	0	0	747	835	29	2	2249	2	AP3D1	19	2120904	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08		2120904	57008079	67	83282											
MUC16	94025	broad.mit.edu	37	chr19	9010648	9010648	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcattgactggtacttacTtgtggggctggggagggagg	6	12	18	5	0	1	1	1	1	0	0	1	3	1	3	0	7	2	2	0	7	2	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:9010648T>C	ENST00000397910.4	-	38	39216	c.39013_splice	c.e38+1	p.T13005_splice		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13007					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTACTTACTTGTGGGGCTG	0.463													3	26					0	0	0	0	C	9010648	T	C	9010648	5	2	421	1	0	0	0	0	0	0	1	0	10043	1623	56	5	4698	5	MUC16	19	9010648	Splice_Site	SNP	T	TCGA-HD-8314-01A-11D-2394-08	6889744	9010648	50118335	68	83283											
MUC16	94025	broad.mit.edu	37	chr19	9090795	9090795	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtgcttctgaccctttcGgcacttgtttctgcattgct	4	18	8	11	1	2	1	0	1	2	0	3	1	2	1	1	1	3	5	1	1	0	6			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:9090795G>A	ENST00000397910.4	-	1	1223	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	340	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCCTTTCGGCACTTGTTT	0.527													17	31					0	0	0	0	A	9090795	G	A	9090795	2	1	421	1	0	0	0	0	0	0	0	1	10043	1103	39	1		1	MUC16	19	9090795	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08	80147	9090795	50038188	69	83284											
SYCE2	256126	broad.mit.edu	37	chr19	13011306	13011306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggtctttgtacacagTctccacgctgtggcagactt	9	11	9	12	1	2	1	0	0	2	1	3	1	2	1	1	2	1	3	1	2	1	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:13011306T>A	ENST00000293695.7	-	4	481	c.463A>T	c.(463-465)Act>Tct	p.T155S	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	155					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TTGTACACAGTCTCCACGCTG	0.517													17	40					0	0	0	0	A	13011306	T	A	13011306	3	1	421	1	0	0	0	0	1	0	0	0	15520	1667	58	5	205	5	SYCE2	19	13011306	Missense_Mutation	SNP	T	TCGA-HD-8314-01A-11D-2394-08	3920511	13011306	46117677	70	83285											
GGN	199720	broad.mit.edu	37	chr19	38877187	38877187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttacacagcaggctcaGaccggactcggaatccgcag	11	7	11	12	3	1	1	1	0	0	1	3	4	2	3	2	3	2	3	2	3	2	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:38877187G>T	ENST00000334928.6	-	3	847	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	239	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCAGGCTCAGACCGGACTCG	0.687													9	37					1.12685e-05	1.20418e-05	1	0	T	38877187	G	T	38877187	3	4	421	1	0	0	0	0	1	0	0	0	6409	933	33	2	1251	2	GGN	19	38877187	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08	25865881	38877187	20251796	71	83286											
CEACAM7	1087	broad.mit.edu	37	chr19	42187954	42187954	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctttgttctccaccggAttgaagttgttgctggtgat	7	17	10	7	1	2	2	0	2	2	0	3	3	2	3	2	2	1	4	2	2	2	6			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:42187954A>G	ENST00000006724.3	-	3	669	c.468T>C	c.(466-468)aaT>aaC	p.N156N	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.N156N	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	156	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTCCACCGGATTGAAGTTGT	0.522													34	70					0	0	0	0	G	42187954	A	G	42187954	2	3	421	1	0	0	0	0	0	0	0	1	3226	330	12	5		5	CEACAM7	19	42187954	Silent	SNP	A	TCGA-HD-8314-01A-11D-2394-08	3310767	42187954	16941029	72	83287											
UBOX5	22888	broad.mit.edu	37	chr20	3102422	3102422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggttacacttctccagtGtgctctggtcgatgaccttg	5	14	11	11	2	2	1	0	1	2	0	4	2	2	1	2	2	3	2	2	2	1	3			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:3102422G>A	ENST00000217173.2	-	3	1334	c.863C>T	c.(862-864)aCa>aTa	p.T288I	UBOX5_ENST00000348031.2_Missense_Mutation_p.T288I|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	288	U-box.					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CTTCTCCAGTGTGCTCTGGTC	0.582													16	48					0	0	0	0	A	3102422	G	A	3102422	3	1	421	1	0	0	0	0	1	0	0	0	16990	1377	48	4	774	4	UBOX5	20	3102422	Missense_Mutation	SNP	G	TCGA-HD-8314-01A-11D-2394-08		3102422	59923098	73	83288											
MKKS	8195	broad.mit.edu	37	chr20	10393947	10393947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcaggatctttaaaatGggatgtgtgaccaaaaggtg	12	11	13	5	0	2	1	1	1	1	0	2	3	2	3	1	3	0	1	1	3	4	2			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:10393947G>A	ENST00000347364.2	-	3	978	c.216C>T	c.(214-216)ccC>ccT	p.P72P		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	72					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TCTTTAAAATGGGATGTGTGA	0.463													12	68					0	0	0	0	A	10393947	G	A	10393947	2	1	421	1	0	0	0	0	0	0	0	1	9669	1335	47	4		4	MKKS	20	10393947	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08	7291525	10393947	52631573	74	83289											
CRNKL1	51340	broad.mit.edu	37	chr20	20031214	20031214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctctttctttagcctctCttaagagttgttcagcagtt	6	19	7	9	0	4	1	1	0	3	1	6	1	4	1	1	0	2	5	1	0	2	8			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:20031214C>T	ENST00000377340.2	-	3	618	c.587G>A	c.(586-588)aGa>aAa	p.R196K	CRNKL1_ENST00000536226.1_Missense_Mutation_p.R35K|CRNKL1_ENST00000377327.4_Missense_Mutation_p.R184K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	196					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTAGCCTCTCTTAAGAGTTG	0.373													10	38					0	0	0	0	T	20031214	C	T	20031214	3	4	421	1	0	0	0	0	1	0	0	0	3921	913	32	2	2011	2	CRNKL1	20	20031214	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	9637267	20031214	42994306	75	83290											
SSTR4	6754	broad.mit.edu	37	chr20	23016246	23016246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggggcccggggacgcGcgggcggcgggcatggtcgc	2	3	24	12	8	0	0	0	0	0	0	1	1	0	1	1	9	0	1	1	9	0	0			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:23016246G>A	ENST00000255008.3	+	1	190	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	42					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ccggggacgcgcgggcggcgg	0.726													16	75					0	0	0	0	A	23016246	G	A	23016246	2	1	421	1	0	0	0	0	0	0	0	1	15290	1074	38	1		1	SSTR4	20	23016246	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08	2985032	23016246	40009274	76	83291											
CHRNA4	1137	broad.mit.edu	37	chr20	61981275	61981275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcgggggcggcatcGtctcggggaacacagtactg	6	8	15	12	4	2	0	0	0	2	0	5	1	2	1	1	5	3	2	1	5	2	1			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:61981275G>A	ENST00000370263.4	-	5	1709	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	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)	496					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			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)	GGGCGGCATCGTCTCGGGGAA	0.701													5	13					0	0	0	0	A	61981275	G	A	61981275	2	1	421	1	0	0	0	0	0	0	0	1	3414	1136	40	1		1	CHRNA4	20	61981275	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08	38965029	61981275	1044245	77	83292											
NHP2L1	4809	broad.mit.edu	37	chr22	42070976	42070976	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggactgctgaatggattgGatctgctgtttcagctgcga	8	13	13	7	1	2	1	1	1	1	0	2	5	2	4	0	3	4	4	0	3	1	2	rs11558910		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr22:42070976G>T	ENST00000401959.1	-	4	664	c.348C>A	c.(346-348)atC>atA	p.I116I	NHP2L1_ENST00000215956.5_Silent_p.I116I|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Silent_p.I120I|NHP2L1_ENST00000355257.3_Silent_p.I116I	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	116					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GAATGGATTGGATCTGCTGTT	0.557													5	61					0.184627	0.188078	1	0	T	42070976	G	T	42070976	2	4	421	1	0	0	0	0	0	0	0	1	10480	1164	41	2		2	NHP2L1	22	42070976	Silent	SNP	G	TCGA-HD-8314-01A-11D-2394-08		42070976	9233590	78	83293											
UPF3B	65109	broad.mit.edu	37	chrX	118977252	118977252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataactttccaaaaactttCtatattctggatctaaataa	16	15	2	8	0	3	0	0	0	3	0	4	1	4	1	1	1	2	0	1	1	8	8			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chrX:118977252C>T	ENST00000276201.2	-	5	551	c.482G>A	c.(481-483)aGa>aAa	p.R161K	UPF3B_ENST00000345865.2_Missense_Mutation_p.R161K|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	161	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CAAAAACTTTCTATATTCTGG	0.284													3	22					0	0	0	0	T	118977252	C	T	118977252	3	4	421	1	0	0	0	0	1	0	0	0	17102	913	32	2	997	2	UPF3B	23	118977252	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08		118977252	36293308	79	83294											
PASD1	139135	broad.mit.edu	37	chrX	150817168	150817168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgctgctgctgctgctatCtcagacgtatgtacattgag	7	13	11	10	1	1	2	1	1	1	1	2	2	1	2	0	0	6	8	0	0	3	4			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chrX:150817168C>G	ENST00000370357.4	+	9	956	c.711C>G	c.(709-711)atC>atG	p.I237M		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	237						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ctgctgctATCTCAGACGTAT	0.418													28	13					0	0	0	0	G	150817168	C	G	150817168	3	3	421	1	0	0	0	0	1	0	0	0	11542	903	32	2	741	2	PASD1	23	150817168	Missense_Mutation	SNP	C	TCGA-HD-8314-01A-11D-2394-08	31839916	150817168	4453392	80	83295											
NPPB	4879	broad.mit.edu	37	chr1	11918436	11918436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgggacttccagacacCtgtgggacgggggctctcct	5	8	13	15	2	1	1	0	0	1	1	4	3	3	3	4	4	0	1	4	4	0	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:11918436C>A	ENST00000376468.3	-	2	320	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	75					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	TTCCAGACACCTGTGGGACGG	0.632													5	50					0.014758	0.015386	1	0	A	11918436	C	A	11918436	3	1	422	1	0	0	0	0	1	0	0	0	10663	681	24	4	189	4	NPPB	1	11918436	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08		11918436	237332185	1	83296											
KLHDC7A	127707	broad.mit.edu	37	chr1	18807521	18807521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactggcatttggatatgCagctgaccggcaaggtggtg	9	9	16	7	1	0	1	0	1	0	0	0	3	0	3	1	6	2	4	1	6	2	2	rs140809384	by1000genomes	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:18807521C>A	ENST00000400664.1	+	1	98	c.46C>A	c.(46-48)Cag>Aag	p.Q16K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	16						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGGATATGCAGCTGACCGG	0.597													4	54					0.00909568	0.0095847	1	0	A	18807521	C	A	18807521	3	1	422	1	0	0	0	0	1	0	0	0	8412	711	25	4	48	4	KLHDC7A	1	18807521	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	6889085	18807521	230443100	2	83297											
SESN2	83667	broad.mit.edu	37	chr1	28598377	28598378	+	Frame_Shift_Ins	INS	-	-	T																															ctggcgccactacattgccaINStcatggtgagcctctctggg																										TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:28598377_28598378insT	ENST00000253063.3	+	3	670_671	c.349_350insT	c.(349-351)catfs	p.H117fs		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	117					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTACATTGCCATCATGGTGAGC	0.569													18	50	---	---	---	---					T	28598378	-	T	28598377	7	5	422	1	0	1	1	0	0	0	0	0	14212	217	8	0	359	0	SESN2	1	28598377	Frame_Shift_Ins	INS	-	TCGA-HD-8634-01A-11D-2394-08	9790856	28598377	220652244	3	83298											
PHTF1	10745	broad.mit.edu	37	chr1	114269129	114269129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttcccatgagtagcataagGcacaagggtccaagtacttc	12	9	10	10	0	0	1	0	1	0	0	3	1	2	1	2	2	2	5	2	2	5	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:114269129G>A	ENST00000369604.1	-	6	882	c.399C>T	c.(397-399)tgC>tgT	p.C133C	PHTF1_ENST00000369598.1_Silent_p.C133C|PHTF1_ENST00000369600.1_Silent_p.C80C|PHTF1_ENST00000369596.2_Silent_p.C80C|PHTF1_ENST00000393357.2_Silent_p.C133C|PHTF1_ENST00000357783.2_Silent_p.C133C|PHTF1_ENST00000447664.2_Silent_p.C133C			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	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)		GTAGCATAAGGCACAAGGGTC	0.363													3	32					0	0	0	0	A	114269129	G	A	114269129	2	1	422	1	0	0	0	0	0	0	0	1	11934	1195	42	4		4	PHTF1	1	114269129	Silent	SNP	G	TCGA-HD-8634-01A-11D-2394-08	85670752	114269129	134981492	4	83299											
S100A7L2	645922	broad.mit.edu	37	chr1	153410822	153410822	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatctttgctttcaaaaagCcttcaggaaataaaaacaat	17	12	4	8	0	4	0	3	0	1	0	4	1	4	1	1	1	3	1	1	1	7	4	rs10888561	by1000genomes	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:153410822C>A	ENST00000368725.2	-	2	16	c.16_splice	c.e2-1	p.G6_splice		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTCAAAAAGCCTTCAGGAAA	0.408													4	22					1	1	1	0	A	153410822	C	A	153410822	5	1	422	1	0	0	0	0	0	0	1	0	13870	753	26	4	329	4	S100A7L2	1	153410822	Splice_Site	SNP	C	TCGA-HD-8634-01A-11D-2394-08	39141693	153410822	95839799	5	83300											
FCRL1	115350	broad.mit.edu	37	chr1	157771735	157771735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcaccgcctcactgcGctgggcccccaggccattgt	5	8	12	16	2	2	0	2	0	0	0	2	1	2	0	5	2	1	1	5	2	0	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:157771735G>A	ENST00000358292.3	-	5	907	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	FCRL1_ENST00000368176.3_Missense_Mutation_p.R286C|FCRL1_ENST00000491942.1_Missense_Mutation_p.R286C|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	286	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCTCACTGCGCTGGGCCCCC	0.562													14	50					0	0	0	0	A	157771735	G	A	157771735	3	1	422	1	0	0	0	0	1	0	0	0	5839	1087	38	1	527	1	FCRL1	1	157771735	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	4360913	157771735	91478886	6	83301											
FCGR2A	2212	broad.mit.edu	37	chr1	161480679	161480679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgtggctgtggtcattgcGactgctgtagcagccattgt	6	14	13	8	1	1	0	1	0	0	0	1	1	1	0	1	2	4	4	1	2	1	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:161480679G>A	ENST00000271450.6	+	5	713	c.675G>A	c.(673-675)gcG>gcA	p.A225A	FCGR2A_ENST00000367972.4_Silent_p.A224A|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	225						integral to membrane|plasma membrane	IgG binding|receptor activity	p.A224A(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGTCATTGCGACTGCTGTAG	0.502													9	128					0	0	0	0	A	161480679	G	A	161480679	2	1	422	1	0	0	0	0	0	0	0	1	5826	1045	37	1		1	FCGR2A	1	161480679	Silent	SNP	G	TCGA-HD-8634-01A-11D-2394-08	3708944	161480679	87769942	7	83302											
CFH	3075	broad.mit.edu	37	chr1	196711010	196711010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcctatttcagaaacaGattgtctcagtttacctagc	10	17	5	9	0	2	2	2	0	1	2	4	2	3	2	2	0	3	1	2	0	4	8			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:196711010G>T	ENST00000367429.4	+	19	3202	c.2962G>T	c.(2962-2964)Gat>Tat	p.D988Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	988	Sushi 17.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCAGAAACAGATTGTCTCAG	0.343													8	40					5.18039e-06	5.70425e-06	1	0	T	196711010	G	T	196711010	3	4	422	1	0	0	0	0	1	0	0	0	3312	942	33	2	3054	2	CFH	1	196711010	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	35230331	196711010	52539611	8	83303											
OR2G6	391211	broad.mit.edu	37	chr1	248685383	248685383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgtgcgtctctggccGgtggagcatggctcagcggc	3	10	17	11	3	3	0	1	0	2	0	4	1	3	1	1	6	3	3	1	6	0	1	rs138211669		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:248685383G>A	ENST00000343414.4	+	1	468	c.436G>A	c.(436-438)Ggt>Agt	p.G146S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTCTGGCCGGTGGAGCATG	0.567													4	27					0	0	0	0	A	248685383	G	A	248685383	3	1	422	1	0	0	0	0	1	0	0	0	11071	1116	39	1	438	1	OR2G6	1	248685383	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	51974373	248685383	565238	9	83304											
TRIM54	57159	broad.mit.edu	37	chr2	27521506	27521506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtttccgctgcccatcGtgcaggcatgaggttgtcct	4	11	13	13	3	0	1	0	1	0	0	3	1	2	1	4	3	2	5	4	3	0	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:27521506G>A	ENST00000296098.4	+	2	510	c.240G>A	c.(238-240)tcG>tcA	p.S80S	TRIM54_ENST00000380075.2_Silent_p.S80S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	80					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCCCATCGTGCAGGCATG	0.567													5	45					0	0	0	0	A	27521506	G	A	27521506	2	1	422	1	0	0	0	0	0	0	0	1	16623	1132	40	1		1	TRIM54	2	27521506	Silent	SNP	G	TCGA-HD-8634-01A-11D-2394-08		27521506	215677867	10	83305											
PLEKHH2	130271	broad.mit.edu	37	chr2	43970042	43970042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatacctgtgcacttcatGaatgggatataccaggtagg	12	11	11	7	0	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	6	6			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:43970042G>A	ENST00000282406.4	+	22	3494	c.3384G>A	c.(3382-3384)atG>atA	p.M1128I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1128	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCACTTCATGAATGGGATAT	0.413													9	48					0	0	0	0	A	43970042	G	A	43970042	3	1	422	1	0	0	0	0	1	0	0	0	12149	1290	45	2	3466	2	PLEKHH2	2	43970042	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	16448536	43970042	199229331	11	83306											
KIAA1841	84542	broad.mit.edu	37	chr2	61336370	61336370	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagaagaagaatatacCactggatctgaggtcactga	16	8	10	7	0	3	6	2	2	1	4	3	7	3	7	1	2	1	0	1	2	6	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:61336370C>G	ENST00000402291.1	+	16	1924	c.1683C>G	c.(1681-1683)acC>acG	p.T561T	KIAA1841_ENST00000356719.2_Silent_p.T561T|KIAA1841_ENST00000295031.5_Silent_p.T561T|KIAA1841_ENST00000453873.1_Silent_p.T561T	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	561										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAGAATATACCACTGGATCTG	0.274													4	65					0	0	0	0	G	61336370	C	G	61336370	2	3	422	1	0	0	0	0	0	0	0	1	8312	581	21	4		4	KIAA1841	2	61336370	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08	17366328	61336370	181863003	12	83307											
DOK1	1796	broad.mit.edu	37	chr2	74783880	74783881	+	Frame_Shift_Ins	INS	-	-	T																															cccaaagaggatcccatctaINStgatgaacctgagggcctgg																										TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:74783880_74783881insT	ENST00000233668.5	+	5	1754_1755	c.1085_1086insT	c.(1084-1086)tgafs	p.*362fs	DOK1_ENST00000409429.1_Frame_Shift_Ins_p.*223fs|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	362	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GATCCCATCTATGATGAACCTG	0.574													11	72	---	---	---	---					T	74783881	-	T	74783880	7	5	422	1	0	1	1	0	0	0	0	0	4732	449	16	0	1103	0	DOK1	2	74783880	Frame_Shift_Ins	INS	-	TCGA-HD-8634-01A-11D-2394-08	13447510	74783880	168415493	13	83308											
PKP4	8502	broad.mit.edu	37	chr2	159522944	159522944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcagcatatatccgggCggccgtccgaaaagaaaagg	12	7	13	9	4	0	1	0	0	0	1	2	2	2	1	3	3	2	3	3	3	6	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:159522944C>T	ENST00000389757.3	+	16	2722	c.2597C>T	c.(2596-2598)gCg>gTg	p.A866V	PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.A866V	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	866					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATATCCGGGCGGCCGTCCGA	0.438										HNSCC(62;0.18)			9	53					0	0	0	0	T	159522944	C	T	159522944	3	4	422	1	0	0	0	0	1	0	0	0	12059	768	27	1	2655	1	PKP4	2	159522944	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	84739064	159522944	83676429	14	83309											
TANC1	85461	broad.mit.edu	37	chr2	160082198	160082198	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcgtgtttgttttgcaGgaaatgctgcttgggcgatg	7	14	15	5	2	0	0	0	0	0	0	0	3	0	1	0	2	4	5	0	2	2	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:160082198G>A	ENST00000263635.6	+	24	4048		c.e24-1		TANC1_ENST00000454300.1_Splice_Site	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTGTTTTGCAGGAAATGCTGC	0.498													4	23					0	0	0	0	A	160082198	G	A	160082198	5	1	422	1	0	0	0	0	0	0	1	0	15635	1014	35	4	3897	4	TANC1	2	160082198	Splice_Site	SNP	G	TCGA-HD-8634-01A-11D-2394-08	559254	160082198	83117175	15	83310											
TRAK2	66008	broad.mit.edu	37	chr2	202257694	202257694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtagggccagatctactacGaagttcctttatttcttctt	9	16	7	9	1	3	1	0	0	3	1	4	2	4	1	2	1	2	2	2	1	5	9			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:202257694G>A	ENST00000332624.3	-	10	1479	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	351				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATCTACTACGAAGTTCCTTT	0.388													3	15					0	0	0	0	A	202257694	G	A	202257694	3	1	422	1	0	0	0	0	1	0	0	0	16545	1058	37	1	1721	1	TRAK2	2	202257694	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	42175496	202257694	40941679	16	83311											
D2HGDH	728294	broad.mit.edu	37	chr2	242707144	242707144	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagatggtaacctgcacctCaatgtgacggcggaggcctt	9	8	14	10	2	1	2	1	1	0	1	1	4	1	3	3	5	2	2	3	5	2	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:242707144C>G	ENST00000321264.4	+	10	1535	c.1326C>G	c.(1324-1326)ctC>ctG	p.L442L	D2HGDH_ENST00000403782.1_Silent_p.L308L|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	442					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACCTGCACCTCAATGTGACGG	0.697													10	61					0	0	0	0	G	242707144	C	G	242707144	2	3	422	1	0	0	0	0	0	0	0	1	4246	813	29	2		2	D2HGDH	2	242707144	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08	40449450	242707144	492229	17	83312											
ZNF589	51385	broad.mit.edu	37	chr3	48309526	48309526	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttccatgcaggaaatcaActccacccaggaaatccctg	12	8	8	13	0	1	0	1	0	0	0	4	2	4	2	4	3	2	2	4	3	3	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:48309526A>C	ENST00000354698.3	+	4	417	c.345A>C	c.(343-345)caA>caC	p.Q115H	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Missense_Mutation_p.Q114H	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	115					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGAAATCAACTCCACCCAG	0.507													12	43					0	0	0	0	C	48309526	A	C	48309526	3	2	422	1	0	0	0	0	1	0	0	0	18116	40	2	5	359	5	ZNF589	3	48309526	Missense_Mutation	SNP	A	TCGA-HD-8634-01A-11D-2394-08		48309526	149712904	18	83313											
COL6A6	131873	broad.mit.edu	37	chr3	130282214	130282214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacttatttctctgcacccGcaaatgggagagacaagaaa	14	8	10	9	1	1	2	0	0	1	2	2	5	1	4	1	2	1	2	1	2	4	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:130282214G>A	ENST00000358511.6	+	2	398	c.367G>A	c.(367-369)Gca>Aca	p.A123T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A123T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	123	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCTGCACCCGCAAATGGGAG	0.502													4	36					0	0	0	0	A	130282214	G	A	130282214	3	1	422	1	0	0	0	0	1	0	0	0	3733	1087	38	1	373	1	COL6A6	3	130282214	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	81972688	130282214	67740216	19	83314											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	40					0	0	0	0	G	178952085	A	G	178952085	3	3	422	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HD-8634-01A-11D-2394-08	48669871	178952085	19070345	20	83315											
RFC1	5981	broad.mit.edu	37	chr4	39314498	39314500	+	In_Frame_Del	DEL	CTC	CTC	-																															gcctcatctcgttcaatagaCtccagcacgcctgtgattac																										TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:39314498_39314500delCTC	ENST00000381897.1	-	11	1388_1390	c.1255_1257delGAG	c.(1255-1257)del	p.E419del	RFC1_ENST00000349703.2_In_Frame_Del_p.E419del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	419	BRCT.				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			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTTCAATAGACTCCAGCACGCCT	0.409													21	88	---	---	---	---					-	39314500	CTC	-	39314498	7	5	422	1	0	1	0	1	0	0	0	0	13326	564	20	0	2246	0	RFC1	4	39314498	In_Frame_Del	DEL	CTC	TCGA-HD-8634-01A-11D-2394-08		39314498	151839778	21	83316											
ENAM	10117	broad.mit.edu	37	chr4	71510180	71510180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcaatgaaagaactgttGaccttactcctgagcagctt	12	11	8	10	0	1	4	1	3	0	1	2	4	2	4	2	0	5	4	2	0	4	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:71510180G>A	ENST00000396073.3	+	9	3318	c.3037G>A	c.(3037-3039)Gac>Aac	p.D1013N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1013					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAACTGTTGACCTTACTCC	0.418													9	62					0	0	0	0	A	71510180	G	A	71510180	3	1	422	1	0	0	0	0	1	0	0	0	5150	1290	45	2	3067	2	ENAM	4	71510180	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	32195682	71510180	119644096	22	83317											
LRIT3	345193	broad.mit.edu	37	chr4	110791755	110791755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtaaatcagaacctttttGggaagatgatttggcaaagg	14	12	11	4	0	1	3	1	1	0	2	1	4	1	4	1	3	1	2	1	3	5	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:110791755G>T	ENST00000327908.3	+	4	2065	c.1301G>T	c.(1300-1302)tGg>tTg	p.W434L	LRIT3_ENST00000594814.1_Missense_Mutation_p.W617L|LRIT3_ENST00000379920.3_Missense_Mutation_p.W572L|LRIT3_ENST00000409621.2_Missense_Mutation_p.W434L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	572						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GAACCTTTTTGGGAAGATGAT	0.428													4	42					0.00909568	0.0095847	1	0	T	110791755	G	T	110791755	3	4	422	1	0	0	0	0	1	0	0	0	9013	1357	47	4	1725	4	LRIT3	4	110791755	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	39281575	110791755	80362521	23	83318											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033456	34033457	+	Frame_Shift_Ins	INS	-	-	A																															cccttctctcctttggggccINSatgctgcccccgctcccctc																										TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:34033456_34033457insA	ENST00000382065.3	-	3	1228_1229	c.522_523insT	c.(520-525)cagcccfs	p.QP174fs	C1QTNF3_ENST00000231338.7_Frame_Shift_Ins_p.QP101fs	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	101	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCTTTGGGGCCATGCTGCCCCC	0.569													7	75	---	---	---	---					A	34033457	-	A	34033456	7	5	422	1	0	1	1	0	0	0	0	0	1983	594	21	0	452	0	C1QTNF3	5	34033456	Frame_Shift_Ins	INS	-	TCGA-HD-8634-01A-11D-2394-08		34033456	146881804	24	83319											
VCAN	1462	broad.mit.edu	37	chr5	82786270	82786270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgaagacacacaagacAcggtgtcactgactgtggat	13	8	12	8	1	1	4	1	2	0	2	1	6	1	6	0	3	0	0	0	3	2	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:82786270A>G	ENST00000265077.3	+	3	989	c.424A>G	c.(424-426)Acg>Gcg	p.T142A	VCAN_ENST00000502527.2_Missense_Mutation_p.T142A|VCAN_ENST00000513984.1_Missense_Mutation_p.T142A|VCAN_ENST00000343200.5_Missense_Mutation_p.T142A|VCAN_ENST00000512590.2_Missense_Mutation_p.T94A|VCAN_ENST00000342785.4_Missense_Mutation_p.T142A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	142	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACACAAGACACGGTGTCACT	0.493													12	47					0	0	0	0	G	82786270	A	G	82786270	3	3	422	1	0	0	0	0	1	0	0	0	17234	159	6	5	430	5	VCAN	5	82786270	Missense_Mutation	SNP	A	TCGA-HD-8634-01A-11D-2394-08	48752814	82786270	98128990	25	83320											
KDM3B	51780	broad.mit.edu	37	chr5	137715387	137715387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcgtcttatggaggtgtCtgtaactgaggtgagactct	8	13	12	8	1	3	2	0	2	3	1	4	4	3	3	0	3	1	1	0	3	2	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:137715387C>T	ENST00000314358.5	+	5	895	c.695C>T	c.(694-696)tCt>tTt	p.S232F		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	232					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATGGAGGTGTCTGTAACTGAG	0.468													7	40					0	0	0	0	T	137715387	C	T	137715387	3	4	422	1	0	0	0	0	1	0	0	0	8180	913	32	2	713	2	KDM3B	5	137715387	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	54929117	137715387	43199873	26	83321											
PCDHA9	9752	broad.mit.edu	37	chr5	140229446	140229446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaacgcaccagcgttcGcgcagtccgagtacacggtg	10	5	12	14	7	0	0	0	0	0	0	2	2	1	0	2	1	3	4	2	1	2	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140229446G>A	ENST00000378122.3	+	1	2090	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA9_ENST00000532602.1_Missense_Mutation_p.A456T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCGTTCGCGCAGTCCGA	0.672													16	127					0	0	0	0	A	140229446	G	A	140229446	3	1	422	1	0	0	0	0	1	0	0	0	11602	1087	38	1	1368	1	PCDHA9	5	140229446	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	2514059	140229446	40685814	27	83322											
PCDHB8	56128	broad.mit.edu	37	chr5	140559724	140559724	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggtgtcttcgctcttcctCttctcggtgctcctgttcgt	0	18	9	14	4	4	0	0	0	4	0	10	0	6	0	2	2	1	3	2	2	0	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140559724C>T	ENST00000239444.2	+	1	2354	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		703					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTCTTCCTCTTCTCGGTGC	0.677													35	205					0	0	0	0	T	140559724	C	T	140559724	2	4	422	1	0	0	0	0	0	0	0	1	11619	900	32	2		2	PCDHB8	5	140559724	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08	330278	140559724	40355536	28	83323											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768073	140768073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagagaaaagcagaaatccTaccacttgactttgactgcc	15	8	7	11	0	0	4	0	2	0	2	1	5	1	4	3	0	3	1	3	0	4	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140768073T>C	ENST00000519479.1	+	1	622	c.622T>C	c.(622-624)Tac>Cac	p.Y208H	PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAAATCCTACCACTTGAC	0.433													19	81					0	0	0	0	C	140768073	T	C	140768073	3	2	422	1	0	0	0	0	1	0	0	0	11636	1522	53	5	624	5	PCDHGB4	5	140768073	Missense_Mutation	SNP	T	TCGA-HD-8634-01A-11D-2394-08	208349	140768073	40147187	29	83324											
GMDS	2762	broad.mit.edu	37	chr6	1930368	1930368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttggcatggccccaatctCgtttggcatccagatttccc	6	12	8	15	1	1	1	0	0	1	1	4	1	3	1	5	3	0	3	5	3	1	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:1930368C>T	ENST00000380815.4	-	7	1009	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	GMDS_ENST00000530927.1_Missense_Mutation_p.R217Q	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	247					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GCCCCAATCTCGTTTGGCATC	0.418													8	56					0	0	0	0	T	1930368	C	T	1930368	3	4	422	1	0	0	0	0	1	0	0	0	6537	884	31	1	398	1	GMDS	6	1930368	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08		1930368	169184699	30	83325											
FBXO9	26268	broad.mit.edu	37	chr6	52957298	52957298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaacttgttccgtacaCgtcctggagagagatgtttt	10	15	9	7	2	0	2	0	0	0	2	2	4	2	2	2	1	2	3	2	1	4	7			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:52957298C>T	ENST00000244426.6	+	7	927	c.755C>T	c.(754-756)aCg>aTg	p.T252M	FBXO9_ENST00000323557.7_Missense_Mutation_p.T242M|FBXO9_ENST00000370939.3_Missense_Mutation_p.T208M	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	252						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					GTTCCGTACACGTCCTGGAGA	0.418													11	54					0	0	0	0	T	52957298	C	T	52957298	3	4	422	1	0	0	0	0	1	0	0	0	5807	536	19	1	788	1	FBXO9	6	52957298	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	51026930	52957298	118157769	31	83326											
EYA4	2070	broad.mit.edu	37	chr6	133846228	133846228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgttgtgattggagatggccGagatgaggagcatgccgcta	9	10	16	6	2	0	4	0	2	0	2	0	7	0	5	2	3	2	3	2	3	1	3	rs143208937		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:133846228G>C	ENST00000355167.3	+	19	2272	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	EYA4_ENST00000525849.1_Missense_Mutation_p.R582P|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.R605P|EYA4_ENST00000430974.2_Missense_Mutation_p.R557P|EYA4_ENST00000452339.2_Missense_Mutation_p.R551P|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000355286.6_Intron	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	605					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GGAGATGGCCGAGATGAGGAG	0.403													6	46					0	0	0	0	C	133846228	G	C	133846228	3	2	422	1	0	0	0	0	1	0	0	0	5369	1058	37	3	1884	3	EYA4	6	133846228	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	80888930	133846228	37268839	32	83327											
GET4	51608	broad.mit.edu	37	chr7	927057	927057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaactctcctgagcgcGtgacctttgtgtccagagcc	7	9	9	16	2	1	3	0	2	1	1	3	3	2	3	6	0	3	0	6	0	1	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:927057G>A	ENST00000407192.1	+	3	2725	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	GET4_ENST00000265857.3_Missense_Mutation_p.V123M			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	123					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCTGAGCGCGTGACCTTTGT	0.622													21	73					0	0	0	0	A	927057	G	A	927057	3	1	422	1	0	0	0	0	1	0	0	0	6387	1145	40	1	381	1	GET4	7	927057	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08		927057	158211606	33	83328											
RHBDD2	57414	broad.mit.edu	37	chr7	75511238	75511238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcgctttgctggcaatttCgagagaaccgtgggcaccgt	7	10	14	10	4	0	1	0	0	0	1	1	3	0	1	2	3	2	4	2	3	2	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:75511238C>T	ENST00000006777.6	+	2	405	c.270C>T	c.(268-270)ttC>ttT	p.F90F	RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	90						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CTGGCAATTTCGAGAGAACCG	0.532													12	141					0	0	0	0	T	75511238	C	T	75511238	2	4	422	1	0	0	0	0	0	0	0	1	13400	883	31	1		1	RHBDD2	7	75511238	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08	74584181	75511238	83627425	34	83329											
MCM7	4176	broad.mit.edu	37	chr7	99696765	99696765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccaacttccccacagagtCagcccgcacttcccggatca	10	7	6	18	2	2	1	2	0	0	1	4	2	4	2	5	1	3	1	5	1	2	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:99696765C>G	ENST00000303887.5	-	5	1108	c.463G>C	c.(463-465)Gac>Cac	p.D155H	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.D155H	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	155					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCCACAGAGTCAGCCCGCACT	0.517													5	80					0	0	0	0	G	99696765	C	G	99696765	3	3	422	1	0	0	0	0	1	0	0	0	9461	826	29	2	1740	2	MCM7	7	99696765	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	24185527	99696765	59441898	35	83330											
HBP1	26959	broad.mit.edu	37	chr7	106826320	106826320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccaccagtgtcctcttCttcgaagagtgaaccagcct	8	10	7	16	1	2	2	0	1	2	1	5	3	4	2	6	0	2	0	6	0	2	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:106826320C>T	ENST00000222574.4	+	4	659	c.473C>T	c.(472-474)tCt>tTt	p.S158F	HBP1_ENST00000468410.1_Missense_Mutation_p.S158F|HBP1_ENST00000485846.1_Missense_Mutation_p.S158F	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	158	Poly-Ser.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTGTCCTCTTCTTCGAAGAGT	0.413													11	104					0	0	0	0	T	106826320	C	T	106826320	3	4	422	1	0	0	0	0	1	0	0	0	7035	913	32	2	483	2	HBP1	7	106826320	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	7129555	106826320	52312343	36	83331											
RBM28	55131	broad.mit.edu	37	chr7	127965882	127965882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttccttacctcattctctgGagaagcagctagaaggcatt	10	12	8	11	0	2	2	1	0	1	2	4	3	3	2	2	2	3	3	2	2	4	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:127965882G>A	ENST00000223073.1	-	11	1306	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	RBM28_ENST00000415472.2_Missense_Mutation_p.P257S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	398	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCATTCTCTGGAGAAGCAGCT	0.423													3	24					0	0	0	0	A	127965882	G	A	127965882	3	1	422	1	0	0	0	0	1	0	0	0	13210	1174	41	2	1123	2	RBM28	7	127965882	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	21139562	127965882	31172781	37	83332											
PSD3	23362	broad.mit.edu	37	chr8	18729567	18729567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcagacctctgctctttCaagaaaccaacactgcctgc	12	8	7	14	0	3	3	1	0	2	3	3	3	3	3	3	0	6	2	3	0	3	1	rs75089468		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:18729567C>T	ENST00000440756.2	-	3	909	c.807G>A	c.(805-807)ttG>ttA	p.L269L	PSD3_ENST00000327040.8_Silent_p.L269L|PSD3_ENST00000523619.1_Silent_p.L204L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	269					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCTGCTCTTTCAAGAAACCAA	0.582													4	67					0	0	0	0	T	18729567	C	T	18729567	2	4	422	1	0	0	0	0	0	0	0	1	12727	825	29	2		2	PSD3	8	18729567	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08		18729567	127634455	38	83333											
CPA6	57094	broad.mit.edu	37	chr8	68419123	68419123	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtcgtgatcgtctgcccaGctgaaaacaagagcattcac	12	8	10	11	2	2	3	1	2	1	1	4	4	2	3	1	0	4	2	1	0	3	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:68419123G>C	ENST00000297770.4	-	6	750	c.534_splice	c.e6-1	p.L179_splice	CPA6_ENST00000518549.1_Splice_Site_p.L179_splice|CPA6_ENST00000297769.4_Splice_Site_p.L31_splice	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	179					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CGTCTGCCCAGCTGAAAACAA	0.408													5	49					0	0	0	0	C	68419123	G	C	68419123	5	2	422	1	0	0	0	0	0	0	1	0	3824	985	34	4	802	4	CPA6	8	68419123	Splice_Site	SNP	G	TCGA-HD-8634-01A-11D-2394-08	49689556	68419123	77944899	39	83334											
RUNX1T1	862	broad.mit.edu	37	chr8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttcgcctcttcccgttttCgttcacatcgagaagcagct	7	13	8	13	4	2	1	1	0	1	1	6	2	3	1	2	0	2	5	2	0	1	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:93017372C>T	ENST00000523629.1	-	6	1166	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	238					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542													9	131					0	0	0	0	T	93017372	C	T	93017372	3	4	422	1	0	0	0	0	1	0	0	0	13832	893	31	1	1130	1	RUNX1T1	8	93017372	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	24598249	93017372	53346650	40	83335											
RANBP6	26953	broad.mit.edu	37	chr9	6014242	6014242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgattttccatggtacGtaacagagctgcaatcactg	11	12	8	10	1	1	2	1	1	0	1	2	2	2	2	2	1	4	4	2	1	3	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:6014242G>A	ENST00000259569.5	-	1	1376	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	456					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCCATGGTACGTAACAGAGCT	0.403													4	49					0	0	0	0	A	6014242	G	A	6014242	3	1	422	1	0	0	0	0	1	0	0	0	13113	1145	40	1	1955	1	RANBP6	9	6014242	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08		6014242	135199189	41	83336											
LINGO2	158038	broad.mit.edu	37	chr9	27949108	27949108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattggaaatggtgtcattgGagtcggtcatgtacataggg	10	12	14	5	1	2	0	2	0	0	0	3	2	2	2	0	5	1	1	0	5	3	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:27949108G>T	ENST00000379992.2	-	6	2011	c.1562C>A	c.(1561-1563)tCc>tAc	p.S521Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.S521Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	521						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGTCATTGGAGTCGGTCAT	0.463													49	81					1.22102e-19	1.39139e-19	1	0	T	27949108	G	T	27949108	3	4	422	1	0	0	0	0	1	0	0	0	8870	1174	41	2	262	2	LINGO2	9	27949108	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	21934866	27949108	113264323	42	83337											
FAM166B	730112	broad.mit.edu	37	chr9	35562534	35562534	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacaggaaagctggagccGaagaggaagcgggcgcaggg	13	1	19	8	3	0	1	0	0	0	1	0	5	0	4	1	5	4	3	1	5	3	0			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:35562534G>A	ENST00000399742.2	-	5	652	c.582C>T	c.(580-582)ttC>ttT	p.F194F	FAM166B_ENST00000492890.1_Intron	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	194										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						AGCTGGAGCCGAAGAGGAAGC	0.627													5	14					0	0	0	0	A	35562534	G	A	35562534	2	1	422	1	0	0	0	0	0	0	0	1	5523	1073	37	1		1	FAM166B	9	35562534	Silent	SNP	G	TCGA-HD-8634-01A-11D-2394-08	7613426	35562534	105650897	43	83338											
ZFP37	7539	broad.mit.edu	37	chr9	115805689	115805689	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccttacattcatatggCttctcacctgtgtgagatct	8	16	6	11	0	3	1	2	1	2	1	5	2	4	1	2	1	1	1	2	1	2	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:115805689C>T	ENST00000374227.3	-	4	1236	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K	ZFP37_ENST00000553380.1_Silent_p.K418K|ZFP37_ENST00000555206.1_Silent_p.K404K			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATTCATATGGCTTCTCACCTG	0.398													4	60					0	0	0	0	T	115805689	C	T	115805689	2	4	422	1	0	0	0	0	0	0	0	1	17743	796	28	4		4	ZFP37	9	115805689	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08	80243155	115805689	25407742	44	83339											
LHX3	8022	broad.mit.edu	37	chr9	139092480	139092480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcggctgaagcagcgctCggccagtggcgtgtggcagt	5	7	16	13	4	0	1	0	1	0	0	2	1	0	1	2	4	2	4	2	4	1	0			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:139092480C>T	ENST00000371746.3	-	2	332	c.214G>A	c.(214-216)Gag>Aag	p.E72K	LHX3_ENST00000371748.5_Missense_Mutation_p.E67K	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	67	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		AAGCAGCGCTCGGCCAGTGGC	0.617													6	56					0	0	0	0	T	139092480	C	T	139092480	3	4	422	1	0	0	0	0	1	0	0	0	8826	893	31	1	1014	1	LHX3	9	139092480	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	23286791	139092480	2120951	45	83340											
KIF5B	3799	broad.mit.edu	37	chr10	32311168	32311168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtattcagtcaatgaCttgattttggcttcatgctt	9	17	9	6	0	3	3	3	3	0	0	3	3	3	3	0	2	1	3	0	2	3	7			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:32311168C>T	ENST00000302418.4	-	17	2389	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	644					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CAGTCAATGACTTGATTTTGG	0.353			T	"RET, ALK"	NSCLC								4	42					0	0	0	0	T	32311168	C	T	32311168	2	4	422	1	0	0	0	0	0	0	0	1	8357	564	20	4		4	KIF5B	10	32311168	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08		32311168	103223579	46	83341											
ZNF33B	7582	broad.mit.edu	37	chr10	43089526	43089526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtaccccatcatgtttaGaaagggtggacttcacacat	12	10	9	10	0	2	1	2	0	0	1	2	2	2	2	2	3	1	2	2	3	3	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:43089526G>C	ENST00000359467.3	-	5	986	c.872C>G	c.(871-873)tCt>tGt	p.S291C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	291						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATCATGTTTAGAAAGGGTGGA	0.398													16	63					0	0	0	0	C	43089526	G	C	43089526	3	2	422	1	0	0	0	0	1	0	0	0	17950	942	33	2	1468	2	ZNF33B	10	43089526	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	10778358	43089526	92445221	47	83342											
OGDHL	55753	broad.mit.edu	37	chr10	50960022	50960022	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccaatgtgctggcagtaGgtgttctggggagacacatt	9	10	15	7	0	1	1	0	0	1	1	1	2	1	1	1	5	1	4	1	5	2	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:50960022G>T	ENST00000374103.4	-	6	685	c.600C>A	c.(598-600)acC>acA	p.T200T	OGDHL_ENST00000419399.1_Silent_p.T143T|OGDHL_ENST00000432695.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	200					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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						GCTGGCAGTAGGTGTTCTGGG	0.552													15	141					4.93089e-13	5.55434e-13	1	0	T	50960022	G	T	50960022	2	4	422	1	0	0	0	0	0	0	0	1	10911	987	35	4		4	OGDHL	10	50960022	Silent	SNP	G	TCGA-HD-8634-01A-11D-2394-08	7870496	50960022	84574725	48	83343											
COL17A1	1308	broad.mit.edu	37	chr10	105815542	105815542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccggcgatgctctcaccaTtttcctgttccatcattagc	6	13	7	15	2	2	0	2	0	1	0	5	1	4	0	4	1	2	2	4	1	1	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:105815542T>C	ENST00000353479.5	-	18	1975	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S	COL17A1_ENST00000369733.3_Missense_Mutation_p.N562S|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	562	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTCTCACCATTTTCCTGTTC	0.562													6	41					0	0	0	0	C	105815542	T	C	105815542	3	2	422	1	0	0	0	0	1	0	0	0	3704	1493	52	5	2964	5	COL17A1	10	105815542	Missense_Mutation	SNP	T	TCGA-HD-8634-01A-11D-2394-08	54855520	105815542	29719205	49	83344											
CHST15	51363	broad.mit.edu	37	chr10	125769719	125769719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacctgcgccagcctagcGttgaagggcctgtagaaatc	10	7	13	11	2	0	2	0	1	0	1	1	3	0	3	4	2	3	2	4	2	4	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:125769719G>A	ENST00000346248.5	-	8	2274	c.1632C>T	c.(1630-1632)aaC>aaT	p.N544N	CHST15_ENST00000435907.1_Silent_p.N544N	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	544					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCAGCCTAGCGTTGAAGGGCC	0.622													12	55					0	0	0	0	A	125769719	G	A	125769719	2	1	422	1	0	0	0	0	0	0	0	1	3432	1136	40	1		1	CHST15	10	125769719	Silent	SNP	G	TCGA-HD-8634-01A-11D-2394-08	19954177	125769719	9765028	50	83345											
DDB2	1643	broad.mit.edu	37	chr11	47259428	47259428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacctcattgttgtgggccGatacccagatcctaatttca	10	12	7	12	1	2	1	2	0	0	1	3	2	3	1	4	1	2	1	4	1	3	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:47259428G>A	ENST00000256996.4	+	8	1259	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	DDB2_ENST00000378603.3_Missense_Mutation_p.R291Q|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378600.3_Missense_Mutation_p.R166Q	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	355					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGGCCGATACCCAGAT	0.498			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				15	61					0	0	0	0	A	47259428	G	A	47259428	3	1	422	1	0	0	0	0	1	0	0	0	4356	1058	37	1	1094	1	DDB2	11	47259428	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08		47259428	87747088	51	83346											
ANKRD42	338699	broad.mit.edu	37	chr11	82922403	82922403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttttcatgggcggcttGgctgcttgcaacttcttgtt	4	16	11	10	1	2	0	1	0	1	0	2	0	2	0	0	3	4	6	0	3	1	7			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:82922403G>A	ENST00000393389.3	+	5	1449	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	ANKRD42_ENST00000260047.6_Missense_Mutation_p.G172S|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G173S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G173S|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G173S|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G60S|ANKRD42_ENST00000393392.2_Missense_Mutation_p.G145S			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	145										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGGGCGGCTTGGCTGCTTGCA	0.403													4	52					0	0	0	0	A	82922403	G	A	82922403	3	1	422	1	0	0	0	0	1	0	0	0	669	1348	47	4	451	4	ANKRD42	11	82922403	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	35662975	82922403	52084113	52	83347											
EXPH5	23086	broad.mit.edu	37	chr11	108381234	108381234	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaaggttctcggatttcTtcacatgctttccgttctca	7	15	9	10	2	4	1	2	0	3	1	7	3	5	2	1	3	1	3	1	3	1	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:108381234T>A	ENST00000265843.4	-	6	5110	c.5000A>T	c.(4999-5001)aAg>aTg	p.K1667M	EXPH5_ENST00000525344.1_Missense_Mutation_p.K1660M|EXPH5_ENST00000443411.1_Missense_Mutation_p.K1479M|EXPH5_ENST00000428840.1_Missense_Mutation_p.K1591M	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1667					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCGGATTTCTTCACATGCTT	0.488													26	111					0	0	0	0	A	108381234	T	A	108381234	3	1	422	1	0	0	0	0	1	0	0	0	5360	1609	56	5	973	5	EXPH5	11	108381234	Missense_Mutation	SNP	T	TCGA-HD-8634-01A-11D-2394-08	25458831	108381234	26625282	53	83348											
CACNA1C	775	broad.mit.edu	37	chr12	2786382	2786382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggaacgcgctgtctCtgcaggtgagggcctggggg	6	6	18	11	2	1	2	0	1	1	1	2	3	1	3	2	5	2	2	2	5	1	0			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:2786382C>A	ENST00000399655.1	+	40	5216	c.4951C>A	c.(4951-4953)Ctg>Atg	p.L1651M	CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1668M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1692M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L1699M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1659M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1679M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1670M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1657M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1671M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1676M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1651M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1699					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCGCTGTCTCTGCAGGTGAG	0.637													3	23					1	1	1	0	A	2786382	C	A	2786382	3	1	422	1	0	0	0	0	1	0	0	0	2565	912	32	2	5492	2	CACNA1C	12	2786382	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08		2786382	131065513	54	83349											
PZP	5858	broad.mit.edu	37	chr12	9356398	9356398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaataagtccttctccGccaccaggtcagtgaagagg	11	8	12	10	1	2	2	1	1	1	1	4	3	3	3	4	3	0	0	4	3	3	2	rs150991757	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:9356398G>A	ENST00000261336.2	-	2	261	c.233C>T	c.(232-234)gCg>gTg	p.A78V		NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCCTTCTCCGCCACCAGGTC	0.512													11	75					0	0	0	0	A	9356398	G	A	9356398	3	1	422	1	0	0	0	0	1	0	0	0	12951	1087	38	1	4355	1	PZP	12	9356398	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	6570016	9356398	124495497	55	83350											
HIP1R	9026	broad.mit.edu	37	chr12	123344033	123344033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggggccgtggtcgacaagGagatggcggccacatccgca	8	5	17	11	4	0	1	0	0	0	1	2	3	1	1	3	6	0	1	3	6	1	0			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:123344033G>A	ENST00000253083.4	+	23	2481	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	786	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGTCGACAAGGAGATGGCGGC	0.622													10	48					0	0	0	0	A	123344033	G	A	123344033	3	1	422	1	0	0	0	0	1	0	0	0	7165	1175	41	2	2446	2	HIP1R	12	123344033	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	113987635	123344033	10507862	56	83351											
RCBTB2	1102	broad.mit.edu	37	chr13	49070352	49070352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcatacttcaccgcagccGagagcagagcgatggcattc	11	7	10	13	3	2	2	2	0	0	2	3	4	2	2	2	1	4	3	2	1	1	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr13:49070352G>A	ENST00000344532.3	-	14	1913	c.1490C>T	c.(1489-1491)tCg>tTg	p.S497L	RCBTB2_ENST00000544492.1_Missense_Mutation_p.S223L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.S502L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	497	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACCGCAGCCGAGAGCAGAGC	0.488													5	48					0	0	0	0	A	49070352	G	A	49070352	3	1	422	1	0	0	0	0	1	0	0	0	13254	1059	37	1	173	1	RCBTB2	13	49070352	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08		49070352	66099526	57	83352											
COL4A1	1282	broad.mit.edu	37	chr13	110830547	110830547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccagtccagggaatccgggGaaacccttctctccttttat	8	12	8	13	1	1	0	0	0	1	0	6	2	5	2	5	3	1	0	5	3	3	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr13:110830547G>C	ENST00000375820.4	-	32	2611	c.2490C>G	c.(2488-2490)ttC>ttG	p.F830L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	830	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAATCCGGGGAAACCCTTCT	0.517													11	92					0	0	0	0	C	110830547	G	C	110830547	3	2	422	1	0	0	0	0	1	0	0	0	3719	1165	41	2	2603	2	COL4A1	13	110830547	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	61760195	110830547	4339331	58	83353											
INSM2	84684	broad.mit.edu	37	chr14	36004851	36004851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggctttggctccgaacgcGgtgccccacttgccttcgct	3	10	12	16	5	0	0	0	0	0	0	2	1	1	0	4	3	3	3	4	3	1	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:36004851G>A	ENST00000307169.3	+	1	1604	c.1393G>A	c.(1393-1395)Ggt>Agt	p.G465S		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CTCCGAACGCGGTGCCCCACT	0.637													12	71					0	0	0	0	A	36004851	G	A	36004851	3	1	422	1	0	0	0	0	1	0	0	0	7825	1116	39	1	1395	1	INSM2	14	36004851	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08		36004851	71344689	59	83354											
YLPM1	56252	broad.mit.edu	37	chr14	75264903	75264903	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacaggggggatggagggagGaacagcagtagcaacatcat	15	4	16	6	0	1	0	1	0	0	0	1	4	1	4	0	6	5	3	0	6	4	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:75264903G>C	ENST00000325680.7	+	5	3027	c.2903G>C	c.(2902-2904)gGa>gCa	p.G968A	YLPM1_ENST00000238571.3_Missense_Mutation_p.G773A|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	773	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGGAGGGAGGAACAGCAGTA	0.453													4	63					0	0	0	0	C	75264903	G	C	75264903	3	2	422	1	0	0	0	0	1	0	0	0	17582	1174	41	2	2921	2	YLPM1	14	75264903	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	39260052	75264903	32084637	60	83355											
TUBGCP4	27229	broad.mit.edu	37	chr15	43668716	43668716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaggatcaccatccatctCaacagggccaaggtgggtta	11	9	10	11	0	3	0	3	0	1	0	5	1	4	1	3	4	1	1	3	4	3	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:43668716C>G	ENST00000564079.1	+	3	463	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.Q75E|TUBGCP4_ENST00000570081.1_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	75					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CCATCCATCTCAACAGGGCCA	0.473											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	60					0	0	0	0	G	43668716	C	G	43668716	3	3	422	1	0	0	0	0	1	0	0	0	16864	827	29	2	233	2	TUBGCP4	15	43668716	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08		43668716	58862676	61	83356											
MAP1A	4130	broad.mit.edu	37	chr15	43820734	43820734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccttccaggttccctctGaggattgtgcagccaatggc	6	10	11	14	0	1	1	0	1	1	0	3	2	3	2	5	3	2	2	5	3	1	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:43820734G>A	ENST00000382031.1	+	5	7808	c.7777G>A	c.(7777-7779)Gag>Aag	p.E2593K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E2355K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2355K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2355						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGTTCCCTCTGAGGATTGTGC	0.627													6	49					0	0	0	0	A	43820734	G	A	43820734	3	1	422	1	0	0	0	0	1	0	0	0	9296	1291	45	2	7065	2	MAP1A	15	43820734	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	152018	43820734	58710658	62	83357											
RORA	6095	broad.mit.edu	37	chr15	60907184	60907184	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccagtttatgtgctcaagTtgagaccagaacagcctgct	10	11	9	11	0	1	2	1	1	0	2	2	3	2	2	3	0	4	4	3	0	3	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:60907184T>C	ENST00000309157.4	-	2	249	c.180A>G	c.(178-180)caA>caG	p.Q60Q	RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000559824.1_RNA	NM_002943.3	NP_002934.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	63	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGTGCTCAAGTTGAGACCAGA	0.478													3	32					0	0	0	0	C	60907184	T	C	60907184	2	2	422	1	0	0	0	0	0	0	0	1	13613	1722	60	5		5	RORA	15	60907184	Silent	SNP	T	TCGA-HD-8634-01A-11D-2394-08	17086450	60907184	41624208	63	83358											
KIF23	9493	broad.mit.edu	37	chr15	69737350	69737350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccaggaactagcctcCgatggggagattgaaactaa	14	6	10	11	1	0	2	0	1	0	1	1	5	1	3	4	3	3	0	4	3	4	3	rs35621443	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:69737350C>T	ENST00000260363.4	+	19	2718	c.2601C>T	c.(2599-2601)tcC>tcT	p.S867S	KIF23_ENST00000395392.2_Silent_p.S860S|KIF23_ENST00000352331.4_Silent_p.S763S|KIF23_ENST00000558585.1_Silent_p.S580S|KIF23_ENST00000559279.1_Silent_p.S763S|KIF23_ENST00000537891.1_Silent_p.S580S	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	867					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AACTAGCCTCCGATGGGGAGA	0.383													4	66					0	0	0	0	T	69737350	C	T	69737350	2	4	422	1	0	0	0	0	0	0	0	1	8342	639	23	1		1	KIF23	15	69737350	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08	8830166	69737350	32794042	64	83359											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459324	92459324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacctggcgctcatcctCttcgtgagctacttcggggc	5	10	13	13	3	2	1	1	1	1	0	5	2	3	2	2	4	3	2	2	4	2	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:92459324C>T	ENST00000318445.6	+	2	496	c.282C>T	c.(280-282)ctC>ctT	p.L94L	SLCO3A1_ENST00000424469.2_Silent_p.L94L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	94					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGCTCATCCTCTTCGTGAGCT	0.677													12	60					0	0	0	0	T	92459324	C	T	92459324	2	4	422	1	0	0	0	0	0	0	0	1	14816	900	32	2		2	SLCO3A1	15	92459324	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08	22721974	92459324	10072068	65	83360											
AXIN1	8312	broad.mit.edu	37	chr16	338134	338134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcctatcagtccaccttCtccactttgccgatgatctt	7	13	5	16	1	3	1	1	1	2	0	5	2	4	1	6	0	2	0	6	0	1	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr16:338134C>G	ENST00000262320.3	-	11	2948	c.2577G>C	c.(2575-2577)gaG>gaC	p.E859D	AXIN1_ENST00000354866.3_Missense_Mutation_p.E823D	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	859	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGTCCACCTTCTCCACTTTGC	0.622													8	145					0	0	0	0	G	338134	C	G	338134	3	3	422	1	0	0	0	0	1	0	0	0	1240	912	32	2	15	2	AXIN1	16	338134	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08		338134	90016619	66	83361											
GLG1	2734	broad.mit.edu	37	chr16	74511429	74511429	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagctcggcactcccgtgaGagctgcatgagaaaaaatga	13	7	11	10	2	1	3	1	3	0	2	3	5	2	3	1	1	3	4	1	1	3	0			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr16:74511429G>C	ENST00000422840.2	-	12	1829	c.1830C>G	c.(1828-1830)ctC>ctG	p.L610L	GLG1_ENST00000205061.5_Silent_p.L610L|GLG1_ENST00000447066.2_Silent_p.L599L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	610						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACTCCCGTGAGAGCTGCATGA	0.443													7	36					0	0	0	0	C	74511429	G	C	74511429	2	2	422	1	0	0	0	0	0	0	0	1	6487	929	33	2		2	GLG1	16	74511429	Silent	SNP	G	TCGA-HD-8634-01A-11D-2394-08	74173295	74511429	15843324	67	83362											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:7578457C>A	ENST00000420246.2	-	5	605	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627		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)			28	49					8.88839e-20	1.02478e-19	1	0	A	7578457	C	A	7578457	3	1	422	1	0	0	0	0	1	0	0	0	16476	768	27	3	825	3	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08		7578457	73616753	68	83363											
NEK8	284086	broad.mit.edu	37	chr17	27064746	27064746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggaccaccagtgtccGctgcagaggtaagtgggaag	11	5	16	9	1	0	1	0	0	0	1	1	4	1	3	3	3	2	4	3	3	2	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:27064746G>A	ENST00000268766.6	+	6	915	c.881G>A	c.(880-882)cGc>cAc	p.R294H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	294						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACCAGTGTCCGCTGCAGAGGT	0.597													13	84					0	0	0	0	A	27064746	G	A	27064746	3	1	422	1	0	0	0	0	1	0	0	0	10400	1087	38	1	903	1	NEK8	17	27064746	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	19486289	27064746	54130464	69	83364											
NEUROD2	4761	broad.mit.edu	37	chr17	37762279	37762279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgacagacccttgcacaGagtctgcacgtaggacacta	11	7	10	13	2	1	2	0	0	1	2	1	4	1	3	1	1	3	3	1	1	2	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:37762279G>A	ENST00000302584.4	-	2	794	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	192					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CCCTTGCACAGAGTCTGCACG	0.627													5	42					0	0	0	0	A	37762279	G	A	37762279	2	1	422	1	0	0	0	0	0	0	0	1	10419	933	33	2		2	NEUROD2	17	37762279	Silent	SNP	G	TCGA-HD-8634-01A-11D-2394-08	10697533	37762279	43432931	70	83365											
EVPL	2125	broad.mit.edu	37	chr17	74005143	74005143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcctcgcgcagcttcggGtccttctgggtgaccaccac	4	10	11	16	3	1	1	0	1	1	0	5	1	3	1	4	2	2	3	4	2	0	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:74005143G>C	ENST00000301607.3	-	22	4396	c.4143C>G	c.(4141-4143)gaC>gaG	p.D1381E	EVPL_ENST00000586740.1_Missense_Mutation_p.D1403E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1381	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCAGCTTCGGGTCCTTCTGGG	0.687													18	121					0	0	0	0	C	74005143	G	C	74005143	3	2	422	1	0	0	0	0	1	0	0	0	5330	1252	44	4	1962	4	EVPL	17	74005143	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	36242864	74005143	7190067	71	83366											
TSHZ1	10194	broad.mit.edu	37	chr18	72999603	72999603	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcatcaacccgctgagCgctttgcagtccatcatgaa	9	11	7	14	2	3	2	3	2	0	0	5	2	5	2	3	0	3	3	3	0	2	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr18:72999603C>T	ENST00000322038.5	+	2	2690	c.2106C>T	c.(2104-2106)agC>agT	p.S702S	TSHZ1_ENST00000580243.1_Silent_p.S747S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	747						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCCGCTGAGCGCTTTGCAGT	0.572													8	31					0	0	0	0	T	72999603	C	T	72999603	2	4	422	1	0	0	0	0	0	0	0	1	16718	767	27	1		1	TSHZ1	18	72999603	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08		72999603	5077645	72	83367											
C19orf35	374872	broad.mit.edu	37	chr19	2279061	2279061	+	Frame_Shift_Del	DEL	G	G	-																															ggttggtggagagggacccaGgggtccggaggcggcaggcc																										TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:2279061delG	ENST00000342063.3	-	3	227	c.134delC	c.(133-135)ctfs	p.P45fs		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	45										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GAGGGACCCAGGGGTCCGGAG	0.687													2	4	---	---	---	---					-	2279061	G	-	2279061	7	5	422	1	0	1	0	1	0	0	0	0	1938	1000	35	0	1295	0	C19orf35	19	2279061	Frame_Shift_Del	DEL	G	TCGA-HD-8634-01A-11D-2394-08		2279061	56849922	73	83368											
GMIP	51291	broad.mit.edu	37	chr19	19748784	19748784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgcacgtgcgacacgattCgctgcttggcgatctccagg	6	9	13	13	6	1	0	0	0	1	0	3	3	1	0	1	2	3	3	1	2	0	2			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:19748784C>T	ENST00000203556.4	-	10	1009	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	GMIP_ENST00000587238.1_Missense_Mutation_p.R291Q|GMIP_ENST00000445806.2_Missense_Mutation_p.R291Q	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	291					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGACACGATTCGCTGCTTGGC	0.687													5	33					0	0	0	0	T	19748784	C	T	19748784	3	4	422	1	0	0	0	0	1	0	0	0	6542	884	31	1	2088	1	GMIP	19	19748784	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	17469723	19748784	39380199	74	83369											
KLK3	354	broad.mit.edu	37	chr19	51361452	51361452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgacctcatgctgctccGcctgtcagagcctgccgagc	6	7	10	18	3	2	1	2	0	0	1	3	3	3	1	6	0	5	2	6	0	0	0			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:51361452G>A	ENST00000360617.3	+	3	374	c.374G>A	c.(373-375)cGc>cAc	p.R125H	KLK3_ENST00000593997.1_Missense_Mutation_p.R125H|KLK3_ENST00000595952.1_Missense_Mutation_p.R82H|KLK3_ENST00000326003.2_Missense_Mutation_p.R125H|KLK3_ENST00000597483.1_Missense_Mutation_p.R82H			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	125	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATGCTGCTCCGCCTGTCAGAG	0.627													4	44					0	0	0	0	A	51361452	G	A	51361452	3	1	422	1	0	0	0	0	1	0	0	0	8457	1087	38	1	388	1	KLK3	19	51361452	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	31612668	51361452	7767531	75	83370											
LAMA5	3911	broad.mit.edu	37	chr20	60890184	60890184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcatggcctgcagCtgggactgcacacgggtggc	5	9	14	13	1	1	0	0	0	1	0	2	1	1	1	2	4	4	4	2	4	0	1			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr20:60890184C>T	ENST00000252999.3	-	59	8013	c.7947G>A	c.(7945-7947)caG>caA	p.Q2649Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2649	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCCTGCAGCTGGGACTGCA	0.662													5	25					0	0	0	0	T	60890184	C	T	60890184	2	4	422	1	0	0	0	0	0	0	0	1	8662	796	28	4		4	LAMA5	20	60890184	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08		60890184	2135336	76	83371											
BRWD1	54014	broad.mit.edu	37	chr21	40650738	40650738	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgaacttcaggggacgtgGgctttaaaagaagaagatgc	14	8	14	5	1	1	4	1	1	0	3	1	5	1	5	0	3	2	1	0	3	5	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr21:40650738G>A	ENST00000342449.3	-	10	1012	c.932_splice	c.e10-1	p.P312_splice	BRWD1_ENST00000333229.2_Splice_Site_p.P312_splice|BRWD1_ENST00000380800.3_Splice_Site_p.P312_splice	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGGGACGTGGGCTTTAAAAG	0.308													4	52					0	0	0	0	A	40650738	G	A	40650738	5	1	422	1	0	0	0	0	0	0	1	0	1533	1246	43	4	6399	4	BRWD1	21	40650738	Splice_Site	SNP	G	TCGA-HD-8634-01A-11D-2394-08		40650738	7479157	77	83372											
AMELX	265	broad.mit.edu	37	chrX	11316948	11316948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcaccagcccatgcagcCccagccacctgtgcacccca	8	4	7	22	0	1	0	1	0	0	0	1	0	1	0	9	0	5	2	9	0	0	0			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:11316948C>T	ENST00000380712.3	+	6	535	c.467C>T	c.(466-468)cCc>cTc	p.P156L	ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.P126L|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.P142L	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	142					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCCATGCAGCCCCAGCCACCT	0.657													7	54					0	0	0	0	T	11316948	C	T	11316948	3	4	422	1	0	0	0	0	1	0	0	0	569	623	22	4	485	4	AMELX	23	11316948	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08		11316948	143953612	78	83373											
FRMPD4	9758	broad.mit.edu	37	chrX	12712510	12712510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttttccgaattagcttcgtCccaaaagatccaattgacct	11	13	5	12	2	0	2	0	1	0	1	4	3	3	2	4	0	1	1	4	0	5	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:12712510C>T	ENST00000380682.1	+	9	1376	c.870C>T	c.(868-870)gtC>gtT	p.V290V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	290	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTAGCTTCGTCCCAAAAGATC	0.413													12	41					0	0	0	0	T	12712510	C	T	12712510	2	4	422	1	0	0	0	0	0	0	0	1	6107	842	30	2		2	FRMPD4	23	12712510	Silent	SNP	C	TCGA-HD-8634-01A-11D-2394-08	1395562	12712510	142558050	79	83374											
MAP3K15	389840	broad.mit.edu	37	chrX	19425376	19425376	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatggacataaagaaaacAacacctttcatcaaactttg	18	10	4	9	0	3	1	3	0	0	1	3	2	3	2	1	1	3	0	1	1	6	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:19425376A>C	ENST00000338883.4	-	13	1773	c.1774T>G	c.(1774-1776)Tgt>Ggt	p.C592G	MAP3K15_ENST00000359173.3_Missense_Mutation_p.C27G|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.C424G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	592							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TAAAGAAAACAACACCTTTCA	0.338													6	27					0	0	0	0	C	19425376	A	C	19425376	3	2	422	1	0	0	0	0	1	0	0	0	9318	130	5	5	2235	5	MAP3K15	23	19425376	Missense_Mutation	SNP	A	TCGA-HD-8634-01A-11D-2394-08	6712866	19425376	135845184	80	83375											
OPHN1	4983	broad.mit.edu	37	chrX	67421524	67421524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccgtcttccttctcacaCagtacttcagtgttaagtcc	8	14	5	14	1	3	0	2	0	2	0	7	0	6	0	3	0	1	2	3	0	2	5			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:67421524C>A	ENST00000355520.5	-	11	1603	c.962G>T	c.(961-963)tGt>tTt	p.C321F	OPHN1_ENST00000540071.1_Missense_Mutation_p.C321F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	321	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCTTCTCACACAGTACTTCAG	0.423													6	62					2.7689e-08	3.08354e-08	1	0	A	67421524	C	A	67421524	3	1	422	1	0	0	0	0	1	0	0	0	10946	478	17	4	1502	4	OPHN1	23	67421524	Missense_Mutation	SNP	C	TCGA-HD-8634-01A-11D-2394-08	47996148	67421524	87849036	81	83376											
ATP7A	538	broad.mit.edu	37	chrX	77287021	77287021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatcttggccattgtgggaActgctgaaagtaacagtgaa	14	10	11	6	0	1	2	0	2	1	0	1	3	1	3	1	2	3	2	1	2	5	3			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:77287021A>G	ENST00000341514.6	+	16	3390	c.3235A>G	c.(3235-3237)Act>Gct	p.T1079A	ATP7A_ENST00000350425.4_Missense_Mutation_p.T82A|ATP7A_ENST00000343533.5_Missense_Mutation_p.T1001A	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1079					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CATTGTGGGAACTGCTGAAAG	0.398													23	144					0	0	0	0	G	77287021	A	G	77287021	3	3	422	1	0	0	0	0	1	0	0	0	1194	43	2	5	3293	5	ATP7A	23	77287021	Missense_Mutation	SNP	A	TCGA-HD-8634-01A-11D-2394-08	9865497	77287021	77983539	82	83377											
CAPN6	827	broad.mit.edu	37	chrX	110491150	110491150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcactgtgaacagtgatctGagtaactactttcgggtagc	11	11	11	8	1	1	3	0	3	1	0	2	3	1	3	0	1	5	3	0	1	4	4			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:110491150G>C	ENST00000324068.1	-	11	1722	c.1555C>G	c.(1555-1557)Cag>Gag	p.Q519E	CAPN6_ENST00000541758.1_Missense_Mutation_p.Q264E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	519	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAGTGATCTGAGTAACTACT	0.428													17	121					0	0	0	0	C	110491150	G	C	110491150	3	2	422	1	0	0	0	0	1	0	0	0	2655	1299	45	2	382	2	CAPN6	23	110491150	Missense_Mutation	SNP	G	TCGA-HD-8634-01A-11D-2394-08	33204129	110491150	44779410	83	83378											
KLHL17	339451	broad.mit.edu	37	chr1	900541	900541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccgccgccatcctccccGacgctgtccgtgtcctccac	3	9	7	22	5	0	0	0	0	0	0	6	1	6	0	9	0	0	1	9	0	0	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:900541G>A	ENST00000338591.3	+	12	2006	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	633	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CATCCTCCCCGACGCTGTCCG	0.667													19	39					0	0	0	0	A	900541	G	A	900541	2	1	423	1	0	0	0	0	0	0	0	1	8424	1045	37	1		1	KLHL17	1	900541	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08		900541	248350080	1	83379											
VPS13D	55187	broad.mit.edu	37	chr1	12316413	12316413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatggccaggagcatggaGagtcgcagccatcactacgt	10	6	13	12	2	1	1	1	0	0	1	2	3	1	2	3	3	3	2	3	3	1	1	rs148067811		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:12316413G>C	ENST00000358136.3	+	8	823	c.693G>C	c.(691-693)gaG>gaC	p.E231D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	231					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGCATGGAGAGTCGCAGCC	0.537													17	156					0	0	0	0	C	12316413	G	C	12316413	3	2	423	1	0	0	0	0	1	0	0	0	17288	933	33	2	719	2	VPS13D	1	12316413	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	11415872	12316413	236934208	2	83380											
SPEN	23013	broad.mit.edu	37	chr1	16255478	16255478	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatcttctgccctggacCagaaacttcaggtctctcag	10	11	7	13	0	6	1	3	0	3	1	7	2	6	2	2	2	2	0	2	2	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:16255478C>T	ENST00000375759.3	+	11	2947	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	915					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCTGGACCAGAAACTTCA	0.443													16	229					0	0	0	0	T	16255478	C	T	16255478	4	4	423	1	0	0	0	0	0	1	0	0	15128	595	21	4	2785	4	SPEN	1	16255478	Nonsense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	3939065	16255478	232995143	3	83381											
FBXO42	54455	broad.mit.edu	37	chr1	16577604	16577604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttagtgctgcagaggccGaggggcctttggaggacatc	8	8	16	9	1	0	1	0	0	0	1	1	5	0	3	2	5	2	2	2	5	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:16577604G>A	ENST00000375592.3	-	10	1931	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	572										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGCAGAGGCCGAGGGGCCTTT	0.637													17	54					0	0	0	0	A	16577604	G	A	16577604	3	1	423	1	0	0	0	0	1	0	0	0	5796	1059	37	1	442	1	FBXO42	1	16577604	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	322126	16577604	232673017	4	83382											
ZBTB40	9923	broad.mit.edu	37	chr1	22850916	22850916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcacggaaacccaggcCgcagcctcacagatggcgca	12	3	12	14	3	1	2	1	1	0	1	1	3	1	3	3	3	3	3	3	3	1	0	rs139786086		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:22850916C>T	ENST00000404138.1	+	18	4015	c.3504C>T	c.(3502-3504)gcC>gcT	p.A1168A	ZBTB40_ENST00000374651.4_Silent_p.A1056A|ZBTB40_ENST00000375647.4_Silent_p.A1168A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1168					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAACCCAGGCCGCAGCCTCAC	0.552													23	42					0	0	0	0	T	22850916	C	T	22850916	2	4	423	1	0	0	0	0	0	0	0	1	17637	639	23	1		1	ZBTB40	1	22850916	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	6273312	22850916	226399705	5	83383											
RHCE	6006	broad.mit.edu	37	chr1	25717249	25717249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgctcaccatgctgatCttcctttgggggtgagccaa	6	11	11	13	0	2	2	1	2	1	0	3	2	3	2	4	2	3	2	4	2	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:25717249C>T	ENST00000349320.3	-	7	1132	c.744G>A	c.(742-744)aaG>aaA	p.K248K	RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000374352.2_Silent_p.K248K|RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000294413.7_Silent_p.K264K|RHCE_ENST00000243186.6_Silent_p.K264K			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	264						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCTGATCTTCCTTTGGG	0.557													36	100					0	0	0	0	T	25717249	C	T	25717249	2	4	423	1	0	0	0	0	0	0	0	1	13408	912	32	2		2	RHCE	1	25717249	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	2866333	25717249	223533372	6	83384											
RPS6KA1	6195	broad.mit.edu	37	chr1	26881104	26881104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagactttggcctgagcaaaGaggccattgaccacgagaag	13	7	12	9	1	0	5	0	2	0	3	0	6	0	5	3	2	1	1	3	2	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:26881104G>C	ENST00000374168.2	+	9	785	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	211	Protein kinase 1.				axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCTGAGCAAAGAGGCCATTGA	0.602													26	162					0	0	0	0	C	26881104	G	C	26881104	3	2	423	1	0	0	0	0	1	0	0	0	13735	943	33	2	804	2	RPS6KA1	1	26881104	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1163855	26881104	222369517	7	83385											
ARID1A	8289	broad.mit.edu	37	chr1	27099905	27099905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgggtgacccctacagtCgtgctgccggccctgggcta	5	8	15	13	2	0	1	0	1	0	0	1	2	0	2	4	4	3	2	4	4	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:27099905C>T	ENST00000324856.7	+	15	4155	c.3784C>T	c.(3784-3786)Cgt>Tgt	p.R1262C	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								6	46					0	0	0	0	T	27099905	C	T	27099905	3	4	423	1	0	0	0	0	1	0	0	0	915	884	31	1	3842	1	ARID1A	1	27099905	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	218801	27099905	222150716	8	83386											
GPATCH3	63906	broad.mit.edu	37	chr1	27226714	27226714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagagagaagctggccctCagcggctgggtcggtaggaa	9	6	17	9	2	1	2	1	1	0	2	2	5	1	3	1	5	2	3	1	5	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:27226714C>T	ENST00000361720.5	-	1	243	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	74						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGCCCTCAGCGGCTGGG	0.642													18	66					0	0	0	0	T	27226714	C	T	27226714	3	4	423	1	0	0	0	0	1	0	0	0	6641	835	29	2	1385	2	GPATCH3	1	27226714	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	126809	27226714	222023907	9	83387											
RCC1	1104	broad.mit.edu	37	chr1	28858861	28858861	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctggggctccttccGggtaaggctgggtctgaaag	5	11	14	11	1	2	1	0	1	2	0	5	1	5	1	3	5	0	3	3	5	2	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:28858861G>A	ENST00000373833.6	+	7	725	c.441_splice	c.e7+1	p.R147_splice	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Splice_Site_p.R147_splice|RCC1_ENST00000373831.3_Splice_Site_p.R178_splice|RCC1_ENST00000373832.1_Splice_Site_p.R147_splice			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	147					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCCTTCCGGGTAAGGCTG	0.547													12	37					0	0	0	0	A	28858861	G	A	28858861	5	1	423	1	0	0	0	0	0	0	1	0	13255	1130	39	1	547	1	RCC1	1	28858861	Splice_Site	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1632147	28858861	220391760	10	83388											
MACF1	23499	broad.mit.edu	37	chr1	39798666	39798666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacacctcctgaccatacctCctgctgaggcggaaggtgtg	8	8	12	13	1	0	2	0	2	0	0	2	4	2	3	5	3	2	1	5	3	2	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:39798666C>T	ENST00000564288.1	+	37	7183	c.6406C>T	c.(6406-6408)Cct>Tct	p.P2136S	MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000372915.3_Missense_Mutation_p.P2141S|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2141					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCATACCTCCTGCTGAGGC	0.463													21	26					0	0	0	0	T	39798666	C	T	39798666	3	4	423	1	0	0	0	0	1	0	0	0	9209	855	30	2	6497	2	MACF1	1	39798666	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	10939805	39798666	209451955	11	83389											
NFYC	4802	broad.mit.edu	37	chr1	41213250	41213250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactggctcgtattaagaaGattatgaaactggatgaaga	15	10	10	6	1	0	5	0	2	0	3	1	6	0	6	1	2	1	2	1	2	6	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:41213250G>A	ENST00000372652.1	+	3	418	c.150G>A	c.(148-150)aaG>aaA	p.K50K	NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000308733.5_Silent_p.K50K			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	50					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTATTAAGAAGATTATGAAAC	0.378													5	19					0	0	0	0	A	41213250	G	A	41213250	2	1	423	1	0	0	0	0	0	0	0	1	10461	933	33	2		2	NFYC	1	41213250	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1414584	41213250	208037371	12	83390											
HPDL	84842	broad.mit.edu	37	chr1	45793750	45793750	+	Frame_Shift_Del	DEL	G	G	-																															cctcatctgcttgctcgacaGgggatcctgctagatggtga																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:45793750delG	ENST00000334815.3	+	1	1206	c.930delG	c.(928-930)cafs	p.Q310fs		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	310					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGCTCGACAGGGGATCCTGC	0.557													23	82	---	---	---	---					-	45793750	G	-	45793750	7	5	423	1	0	1	0	1	0	0	0	0	7383	991	35	0	932	0	HPDL	1	45793750	Frame_Shift_Del	DEL	G	TCGA-HD-8635-01A-11D-2394-08	4580500	45793750	203456871	13	83391											
C1orf173	127254	broad.mit.edu	37	chr1	75055746	75055746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacttctggatgaggttGatgaagcagttttcatatct	9	15	12	5	0	3	4	1	4	2	0	3	5	3	5	0	3	1	3	0	3	2	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:75055746G>T	ENST00000326665.5	-	12	1963	c.1745C>A	c.(1744-1746)tCa>tAa	p.S582*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	582	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGATGAGGTTGATGAAGCAGT	0.383													9	11					1.12685e-05	1.1743e-05	1	0	T	75055746	G	T	75055746	4	4	423	1	0	0	0	0	0	1	0	0	2033	1294	45	2	2859	2	C1orf173	1	75055746	Nonsense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	29261996	75055746	174194875	14	83392											
SLC44A5	204962	broad.mit.edu	37	chr1	75679473	75679473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaataggaaggccaGaacacctacattgaaaaggt	17	7	11	6	0	0	4	0	2	0	2	0	5	0	5	2	3	2	0	2	3	8	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:75679473G>T	ENST00000370855.5	-	22	1992	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	627						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGAAGGCCAGAACACCTACA	0.363													14	46					1.5842e-08	1.70474e-08	1	0	T	75679473	G	T	75679473	3	4	423	1	0	0	0	0	1	0	0	0	14727	933	33	2	403	2	SLC44A5	1	75679473	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	623727	75679473	173571148	15	83393											
FAM73A	374986	broad.mit.edu	37	chr1	78267146	78267146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatattaccatgggaacCagagcacctcatacttgaat	17	9	6	9	0	1	2	1	1	0	1	1	3	1	3	3	1	4	1	3	1	7	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:78267146C>G	ENST00000370791.3	+	3	358	c.326C>G	c.(325-327)cCa>cGa	p.P109R	FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	109						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCATGGGAACCAGAGCACCTC	0.358													9	24					0	0	0	0	G	78267146	C	G	78267146	3	3	423	1	0	0	0	0	1	0	0	0	5663	594	21	4	336	4	FAM73A	1	78267146	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	2587673	78267146	170983475	16	83394											
CLCA4	22802	broad.mit.edu	37	chr1	87033303	87033303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atatcctctgggaggaacttCcatctgctctggaattaaat	11	13	8	9	0	3	0	0	0	3	0	5	3	5	3	2	3	2	1	2	3	5	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:87033303C>T	ENST00000370563.3	+	7	1193	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	384	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGAGGAACTTCCATCTGCTCT	0.353													9	21					0	0	0	0	T	87033303	C	T	87033303	3	4	423	1	0	0	0	0	1	0	0	0	3489	855	30	2	1177	2	CLCA4	1	87033303	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	8766157	87033303	162217318	17	83395											
LPPR4	9890	broad.mit.edu	37	chr1	99772192	99772192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatacagatcccgtccactGaaggtgaaggcagtggctcc	10	8	11	12	1	1	3	1	2	0	1	4	3	4	3	3	3	1	2	3	3	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:99772192G>A	ENST00000370185.3	+	7	2415	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		640							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCCGTCCACTGAAGGTGAAGG	0.537													12	32					0	0	0	0	A	99772192	G	A	99772192	3	1	423	1	0	0	0	0	1	0	0	0	8991	1291	45	2	1944	2	LPPR4	1	99772192	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	12738889	99772192	149478429	18	83396											
COL11A1	1301	broad.mit.edu	37	chr1	103483409	103483409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccagggggtccagtgggGccttgtagacctggaggacc	7	7	16	11	0	1	1	1	0	0	1	2	3	2	3	5	6	0	1	5	6	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:103483409G>A	ENST00000358392.2	-	11	1733	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	COL11A1_ENST00000353414.4_Silent_p.G421G|COL11A1_ENST00000512756.1_Silent_p.G344G|COL11A1_ENST00000370096.3_Silent_p.G460G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	460	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCAGTGGGGCCTTGTAGAC	0.388													31	59					0	0	0	0	A	103483409	G	A	103483409	2	1	423	1	0	0	0	0	0	0	0	1	3697	1190	42	4		4	COL11A1	1	103483409	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	3711217	103483409	145767212	19	83397											
GPR61	83873	broad.mit.edu	37	chr1	110086737	110086737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcttcaagccagctccaGaggaggagctgaggctgcct	8	8	13	12	0	2	2	1	1	1	1	3	4	3	4	3	3	4	4	3	3	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:110086737G>C	ENST00000527748.1	+	2	1776	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	365						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGCTCCAGAGGAGGAGCT	0.567													28	32					0	0	0	0	C	110086737	G	C	110086737	3	2	423	1	0	0	0	0	1	0	0	0	6751	943	33	2	1095	2	GPR61	1	110086737	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	6603328	110086737	139163884	20	83398											
SYT6	148281	broad.mit.edu	37	chr1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgcagccgggtgtgaCgcatgatgtgctccttgacc	5	9	14	13	3	0	3	0	3	0	0	1	3	1	3	4	1	3	4	4	1	0	1	rs138691067		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:114682285C>T	ENST00000393296.1	-	2	541	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_ENST00000369547.1_Missense_Mutation_p.R70H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622													21	26					0	0	0	0	T	114682285	C	T	114682285	3	4	423	1	0	0	0	0	1	0	0	0	15569	536	19	1	1092	1	SYT6	1	114682285	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	4595548	114682285	134568336	21	83399											
TTF2	8458	broad.mit.edu	37	chr1	117619276	117619276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagcaggaactaatgagaaGagtaacagtcaagtaccaca	18	6	10	7	0	1	3	1	2	0	2	1	5	1	4	1	1	4	3	1	1	6	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:117619276G>C	ENST00000369466.3	+	7	1448	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	468					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTAATGAGAAGAGTAACAGTC	0.507													9	78					0	0	0	0	C	117619276	G	C	117619276	3	2	423	1	0	0	0	0	1	0	0	0	16815	933	33	2	1430	2	TTF2	1	117619276	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	2936991	117619276	131631345	22	83400											
WARS2	10352	broad.mit.edu	37	chr1	119575787	119575787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaccgcggcatgcaccGccactatgttggacacgcca	8	6	10	17	5	1	0	1	0	0	0	1	1	1	1	5	2	1	3	5	2	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:119575787G>A	ENST00000235521.4	-	6	856	c.830C>T	c.(829-831)gCg>gTg	p.A277V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	277					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GGCATGCACCGCCACTATGTT	0.637													13	58					0	0	0	0	A	119575787	G	A	119575787	3	1	423	1	0	0	0	0	1	0	0	0	17346	1087	38	1	256	1	WARS2	1	119575787	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1956511	119575787	129674834	23	83401											
BCL9	607	broad.mit.edu	37	chr1	147092152	147092152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaacatgggatccaactctCagatgatacctcagaagatg	14	9	8	10	0	3	4	3	1	1	3	5	5	4	5	2	1	3	0	2	1	4	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:147092152C>G	ENST00000234739.3	+	8	2931	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	731	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATCCAACTCTCAGATGATACC	0.537			T	"IGH@, IGL@"	B-ALL								9	24					0	0	0	0	G	147092152	C	G	147092152	3	3	423	1	0	0	0	0	1	0	0	0	1385	827	29	2	2209	2	BCL9	1	147092152	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	27516365	147092152	102158469	24	83402											
SMG5	23381	broad.mit.edu	37	chr1	156236414	156236414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtatgttgacatgattgacGaggtgggaaaagagggccag	12	8	16	5	2	0	4	0	3	0	1	0	6	0	5	1	3	0	2	1	3	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:156236414G>A	ENST00000361813.5	-	11	1317	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	391					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATGATTGACGAGGTGGGAAA	0.582													16	48					0	0	0	0	A	156236414	G	A	156236414	2	1	423	1	0	0	0	0	0	0	0	1	14884	1045	37	1		1	SMG5	1	156236414	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	9144262	156236414	93014207	25	83403											
NOS1AP	9722	broad.mit.edu	37	chr1	162302876	162302876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgctcgagatggtgccagCaatatcttcaggtgtaacgt	10	11	11	9	3	2	1	1	0	1	1	4	2	2	1	1	2	3	3	1	2	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:162302876C>A	ENST00000361897.5	+	5	816	c.414C>A	c.(412-414)agC>agA	p.S138R	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	138	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATGGTGCCAGCAATATCTTCA	0.433													6	30					0.0215528	0.021847	1	0	A	162302876	C	A	162302876	3	1	423	1	0	0	0	0	1	0	0	0	10612	709	25	4	432	4	NOS1AP	1	162302876	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	6066462	162302876	86947745	26	83404											
PAPPA2	60676	broad.mit.edu	37	chr1	176564577	176564577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgatgggggtgactgcCgcctgcagggccgctgctac	5	8	16	12	2	0	2	0	2	0	0	0	2	0	2	3	3	4	4	3	3	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:176564577C>G	ENST00000367662.3	+	3	3001	c.1837C>G	c.(1837-1839)Cgc>Ggc	p.R613G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGTGACTGCCGCCTGCAGGG	0.587													11	65					0	0	0	0	G	176564577	C	G	176564577	3	3	423	1	0	0	0	0	1	0	0	0	11504	652	23	3	1843	3	PAPPA2	1	176564577	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	14261701	176564577	72686044	27	83405											
PTPN7	5778	broad.mit.edu	37	chr1	202124662	202124662	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcagccaggccactcactCggatgtagttggcattgatg	8	10	12	11	1	1	1	1	1	0	0	2	2	1	2	2	3	2	4	2	3	1	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:202124662C>G	ENST00000309017.3	-	5	1555	c.783_splice	c.e5+1	p.R261_splice	PTPN7_ENST00000367279.4_Splice_Site_p.R195_splice|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000308986.5_Splice_Site_p.R156_splice|PTPN7_ENST00000492977.1_5'UTR	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	156	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCCACTCACTCGGATGTAGTT	0.547													8	20					0	0	0	0	G	202124662	C	G	202124662	5	3	423	1	0	0	0	0	0	0	1	0	12875	898	31	3	639	3	PTPN7	1	202124662	Splice_Site	SNP	C	TCGA-HD-8635-01A-11D-2394-08	25560085	202124662	47125959	28	83406											
RBBP5	5929	broad.mit.edu	37	chr1	205073025	205073025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaatatattcccctcgcCtatcaaaagatgccacaacg	15	10	4	12	2	1	1	1	0	0	1	3	1	2	1	4	0	2	0	4	0	9	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:205073025C>T	ENST00000264515.6	-	5	623	c.482G>A	c.(481-483)aGg>aAg	p.R161K	RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	161					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCCCCTCGCCTATCAAAAGA	0.433													25	93					0	0	0	0	T	205073025	C	T	205073025	3	4	423	1	0	0	0	0	1	0	0	0	13184	681	24	4	1174	4	RBBP5	1	205073025	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	2948363	205073025	44177596	29	83407											
TARBP1	6894	broad.mit.edu	37	chr1	234556462	234556462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatacctggtcaagtctagGgaaaagtaccagcagagtct	13	9	11	8	0	3	2	1	1	2	1	3	3	3	3	2	2	3	2	2	2	6	3	rs147943473	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:234556462G>C	ENST00000040877.1	-	21	3540	c.3541C>G	c.(3541-3543)Cct>Gct	p.P1181A		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1181					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAAGTCTAGGGAAAAGTACC	0.358													4	44					0	0	0	0	C	234556462	G	C	234556462	3	2	423	1	0	0	0	0	1	0	0	0	15646	1232	43	4	1364	4	TARBP1	1	234556462	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	29483437	234556462	14694159	30	83408											
OR2G2	81470	broad.mit.edu	37	chr1	247752053	247752053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctatgtggctgtctgccGtcctctccattacactgtct	4	14	8	15	2	3	0	0	0	3	0	5	0	4	0	4	1	2	2	4	1	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:247752053G>A	ENST00000320065.1	+	1	392	c.392G>A	c.(391-393)cGt>cAt	p.R131H	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	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131H(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)			GCTGTCTGCCGTCCTCTCCAT	0.552													21	131					0	0	0	0	A	247752053	G	A	247752053	3	1	423	1	0	0	0	0	1	0	0	0	11069	1145	40	1	394	1	OR2G2	1	247752053	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	13195591	247752053	1498568	31	83409											
ID2	3398	broad.mit.edu	37	chr2	8822472	8822472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccccagaacaagaaggtGagcaagatggaaatcctgca	16	5	10	10	0	0	4	0	1	0	3	2	5	2	5	3	2	3	2	3	2	5	0	rs149826728	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:8822472G>A	ENST00000234091.4	+	3	1037	c.177G>A	c.(175-177)gtG>gtA	p.V59V	ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	59	Helix-loop-helix motif.				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAAGAAGGTGAGCAAGATGG	0.547													21	57					0	0	0	0	A	8822472	G	A	8822472	2	1	423	1	0	0	0	0	0	0	0	1	7543	1277	45	2		2	ID2	2	8822472	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08		8822472	234376901	32	83410											
APOB	338	broad.mit.edu	37	chr2	21234944	21234944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcagcctgatattcagaaCgcagcagtgcattttgctta	12	12	8	9	1	2	2	2	1	0	1	2	2	2	2	1	0	5	4	1	0	4	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:21234944C>T	ENST00000233242.1	-	26	4923	c.4796G>A	c.(4795-4797)cGt>cAt	p.R1599H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1599					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R1599H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTCAGAACGCAGCAGTGC	0.413													7	40					0	0	0	0	T	21234944	C	T	21234944	3	4	423	1	0	0	0	0	1	0	0	0	787	536	19	1	8911	1	APOB	2	21234944	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	12412472	21234944	221964429	33	83411											
EML4	27436	broad.mit.edu	37	chr2	42557000	42557000	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagtggaaacttgtggaaAagttatctttgcctcagaat	12	14	9	6	0	3	1	2	0	1	1	3	3	3	3	1	2	2	1	1	2	5	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:42557000A>C	ENST00000318522.5	+	23	2861	c.2599A>C	c.(2599-2601)Aag>Cag	p.K867Q	EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000453191.2_Missense_Mutation_p.K131Q|EML4_ENST00000401738.3_Missense_Mutation_p.K878Q	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	867					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTGTGGAAAAGTTATCTTT	0.443			T	ALK	NSCLC								32	77					0	0	0	0	C	42557000	A	C	42557000	3	2	423	1	0	0	0	0	1	0	0	0	5137	15	1	5	2689	5	EML4	2	42557000	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	21322056	42557000	200642373	34	83412											
USP34	9736	broad.mit.edu	37	chr2	61510333	61510333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgtaaatgatcgctatCagcaaggctagatttcacta	13	13	7	8	1	3	2	2	1	1	1	4	2	3	2	0	1	1	4	0	1	6	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:61510333C>A	ENST00000398571.2	-	37	5021	c.4945G>T	c.(4945-4947)Gat>Tat	p.D1649Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1649					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D1649H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCGCTATCAGCAAGGCTA	0.338													4	24					1.024e-07	1.09399e-07	1	0	A	61510333	C	A	61510333	3	1	423	1	0	0	0	0	1	0	0	0	17161	826	29	2	5871	2	USP34	2	61510333	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	18953333	61510333	181689040	35	83413											
LRRTM1	347730	broad.mit.edu	37	chr2	80530254	80530254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgcagggagatgaggcGcgggaagtgggcgaagttca	10	5	20	6	4	1	2	1	1	0	1	1	6	1	3	0	4	1	2	0	4	2	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:80530254G>T	ENST00000295057.3	-	2	1347	c.691C>A	c.(691-693)Cgc>Agc	p.R231S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	231						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.R231C(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						GAGATGAGGCGCGGGAAGTGG	0.582										HNSCC(69;0.2)			25	73					1.42536e-11	1.60353e-11	1	0	T	80530254	G	T	80530254	3	4	423	1	0	0	0	0	1	0	0	0	9103	1087	38	3	881	3	LRRTM1	2	80530254	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	19019921	80530254	162669119	36	83414											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993392	96993392	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaagtatgactttaaactCagtctcccaccgtctaccac	12	10	4	15	1	3	1	1	1	2	0	4	1	3	1	3	0	2	1	3	0	5	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:96993392C>G	ENST00000361124.4	+	1	1458	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	ITPRIPL1_ENST00000439118.2_Silent_p.L341L|ITPRIPL1_ENST00000542887.1_Silent_p.L333L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	341						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTTAAACTCAGTCTCCCAC	0.572													14	68					0	0	0	0	G	96993392	C	G	96993392	2	3	423	1	0	0	0	0	0	0	0	1	7977	813	29	2		2	ITPRIPL1	2	96993392	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	16463138	96993392	146205981	37	83415											
SEMA4C	54910	broad.mit.edu	37	chr2	97527348	97527348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggaggttgcagatgcctGaagtgtccgaggtcatcaca	10	8	13	10	2	2	2	2	1	0	1	3	4	3	3	2	3	2	2	2	3	1	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97527348G>A	ENST00000305476.5	-	14	1772	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	547	PSI.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGATGCCTGAAGTGTCCGA	0.557													32	102					0	0	0	0	A	97527348	G	A	97527348	3	1	423	1	0	0	0	0	1	0	0	0	14120	1294	45	2	869	2	SEMA4C	2	97527348	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	533956	97527348	145672025	38	83416											
SEMA4C	54910	broad.mit.edu	37	chr2	97527623	97527623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagagcgggagccggcaaaGagcagcttctgcgagaaaag	13	4	16	8	3	1	3	0	1	1	3	1	6	1	4	1	2	5	3	1	2	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97527623G>A	ENST00000305476.5	-	13	1584	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	484	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCCGGCAAAGAGCAGCTTCT	0.682													4	17					0	0	0	0	A	97527623	G	A	97527623	2	1	423	1	0	0	0	0	0	0	0	1	14120	929	33	2		2	SEMA4C	2	97527623	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	275	97527623	145671750	39	83417											
SEMA4C	54910	broad.mit.edu	37	chr2	97531481	97531481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgtagggctgcaggaagcgGatgaagttgaagcactcggt	10	9	16	6	2	0	2	0	2	0	0	1	4	0	4	0	4	3	5	0	4	4	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97531481G>A	ENST00000305476.5	-	5	474	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	114	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGGAAGCGGATGAAGTTGA	0.612													6	40					0	0	0	0	A	97531481	G	A	97531481	2	1	423	1	0	0	0	0	0	0	0	1	14120	1164	41	2		2	SEMA4C	2	97531481	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	3858	97531481	145667892	40	83418											
DHRS9	10170	broad.mit.edu	37	chr2	169938300	169938300	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaggatcaacagctttaaAggcagaaacctcagagagac	17	6	9	9	0	3	3	3	0	0	3	3	5	3	4	1	2	3	2	1	2	4	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:169938300A>T	ENST00000421653.1	+	0	293				DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M|DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M|DHRS9_ENST00000327239.4_Missense_Mutation_p.K70M			Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9						9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACAGCTTTAAAGGCAGAAACC	0.483													21	51					0	0	0	0	T	169938300	A	T	169938300	1	4	423	1	0	0	0	0	0	0	0	0	4535	72	3	5		5	DHRS9	2	169938300	Translation_Start_Site	SNP	A	TCGA-HD-8635-01A-11D-2394-08	72406819	169938300	73261073	41	83419											
FSIP2	401024	broad.mit.edu	37	chr2	186672165	186672165	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatttgtccacagaactGaatttccttcaaatgaagtt	14	13	6	8	0	1	3	1	2	0	1	3	4	3	3	2	0	1	1	2	0	5	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:186672165G>T	ENST00000343098.5	+	17	18399	c.18399G>T	c.(18397-18399)ctG>ctT	p.L6133L	FSIP2_ENST00000424728.1_Silent_p.L6044L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCACAGAACTGAATTTCCTTC	0.338													11	52					1.5842e-08	1.70474e-08	1	0	T	186672165	G	T	186672165	2	4	423	1	0	0	0	0	0	0	0	1	6123	1277	45	2		2	FSIP2	2	186672165	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	16733865	186672165	56527208	42	83420											
STK17B	9262	broad.mit.edu	37	chr2	197004523	197004523	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tatgctattataccaatattCctgaaaaacaagggagggga	16	10	9	6	0	0	1	0	1	0	0	1	3	1	3	2	3	3	1	2	3	9	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:197004523C>G	ENST00000263955.4	-	7	943	c.656_splice	c.e7-1	p.W219_splice	STK17B_ENST00000409228.1_Splice_Site_p.W219_splice	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	219	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TACCAATATTCCTGAAAAACA	0.313													4	27					0	0	0	0	G	197004523	C	G	197004523	5	3	423	1	0	0	0	0	0	0	1	0	15381	869	30	2	469	2	STK17B	2	197004523	Splice_Site	SNP	C	TCGA-HD-8635-01A-11D-2394-08	10332358	197004523	46194850	43	83421											
IKZF2	22807	broad.mit.edu	37	chr2	213921699	213921699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgttgtcagccacctcGctgctctcaattaggggttc	5	14	9	13	1	2	0	2	0	1	0	6	0	3	0	3	2	2	4	3	2	2	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:213921699G>A	ENST00000457361.1	-	4	432	c.264C>T	c.(262-264)agC>agT	p.S88S	IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000374327.4_Intron	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGCCACCTCGCTGCTCTCAA	0.527													14	62					0	0	0	0	A	213921699	G	A	213921699	2	1	423	1	0	0	0	0	0	0	0	1	7668	1078	38	1		1	IKZF2	2	213921699	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	16917176	213921699	29277674	44	83422											
ABCA12	26154	broad.mit.edu	37	chr2	215809784	215809784	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctgaaatgatcttccaGaggtgccgtttcgacttcgg	7	14	10	10	3	3	3	0	2	3	1	6	4	4	3	2	2	1	1	2	2	1	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:215809784G>C	ENST00000272895.7	-	49	7503	c.7284C>G	c.(7282-7284)ctC>ctG	p.L2428L	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.L2110L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2428	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGATCTTCCAGAGGTGCCGTT	0.383													4	24					0	0	0	0	C	215809784	G	C	215809784	2	2	423	1	0	0	0	0	0	0	0	1	30	929	33	2		2	ABCA12	2	215809784	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1888085	215809784	27389589	45	83423											
ABCA12	26154	broad.mit.edu	37	chr2	215852510	215852510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccagggagctgccataccGtatgtccctggaataaaaat	13	9	9	10	1	0	0	0	0	0	0	1	2	1	2	4	2	4	2	4	2	7	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:215852510G>A	ENST00000272895.7	-	27	4056	c.3837C>T	c.(3835-3837)taC>taT	p.Y1279Y	ABCA12_ENST00000389661.4_Silent_p.Y961Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1279					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCCATACCGTATGTCCCTG	0.413													5	12					0	0	0	0	A	215852510	G	A	215852510	2	1	423	1	0	0	0	0	0	0	0	1	30	1140	40	1		1	ABCA12	2	215852510	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	42726	215852510	27346863	46	83424											
CCDC108	255101	broad.mit.edu	37	chr2	219892531	219892531	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcgtccagaccaccatGatcttgcccttggtgtggtt	5	13	10	13	2	1	2	0	1	1	1	3	2	2	2	4	2	1	1	4	2	0	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:219892531G>T	ENST00000341552.5	-	13	2135	c.2052C>A	c.(2050-2052)atC>atA	p.I684I	CCDC108_ENST00000409865.3_Silent_p.I673I|CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000410037.1_Silent_p.I619I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	684						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCACCATGATCTTGCCCT	0.622													7	41					0.00307968	0.00315402	1	0	T	219892531	G	T	219892531	2	4	423	1	0	0	0	0	0	0	0	1	2768	1280	45	2		2	CCDC108	2	219892531	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	4040021	219892531	23306842	47	83425											
CHRNG	1146	broad.mit.edu	37	chr2	233408064	233408064	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgtggccaagaaggtGcctgaaacctcccaggcggt	8	9	12	12	1	0	2	0	1	0	1	2	2	2	2	5	4	2	0	5	4	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:233408064G>T	ENST00000389494.3	+	8	906	c.885G>T	c.(883-885)gtG>gtT	p.V295V	CHRNG_ENST00000389492.3_Silent_p.V243V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	295					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCAAGAAGGTGCCTGAAACCT	0.592													13	33					7.03913e-09	7.63e-09	1	0	T	233408064	G	T	233408064	2	4	423	1	0	0	0	0	0	0	0	1	3425	1306	46	4		4	CHRNG	2	233408064	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	13515533	233408064	9791309	48	83426											
KLHL30	377007	broad.mit.edu	37	chr2	239049882	239049882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcctgcgagagaactttGaggctgtggcacgtgaggac	8	9	14	10	2	0	3	0	2	0	1	1	6	1	4	2	3	2	2	2	3	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:239049882G>C	ENST00000409223.1	+	2	594	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	163	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGAGAACTTTGAGGCTGTGGC	0.652													5	22					0	0	0	0	C	239049882	G	C	239049882	3	2	423	1	0	0	0	0	1	0	0	0	8436	1291	45	2	489	2	KLHL30	2	239049882	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	5641818	239049882	4149491	49	83427											
MTMR14	64419	broad.mit.edu	37	chr3	9712819	9712819	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaaatacatctgtgacctGatggtggagaacaagaaggt	14	9	12	6	0	2	4	1	2	1	2	2	5	2	4	1	3	2	0	1	3	5	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:9712819G>A	ENST00000296003.4	+	6	764	c.642G>A	c.(640-642)ctG>ctA	p.L214L	MTMR14_ENST00000351233.5_Silent_p.L214L|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	214						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTGTGACCTGATGGTGGAGA	0.458													12	32					0	0	0	0	A	9712819	G	A	9712819	2	1	423	1	0	0	0	0	0	0	0	1	10012	1277	45	2		2	MTMR14	3	9712819	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08		9712819	188309611	50	83428											
RNF123	63891	broad.mit.edu	37	chr3	49736230	49736230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgagctgcctgattgacctgGatgatggcactctgtccttc	6	13	11	11	0	1	4	0	4	1	0	3	5	2	5	3	2	2	2	3	2	0	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:49736230G>C	ENST00000327697.6	+	9	757	c.613G>C	c.(613-615)Gat>Cat	p.D205H	RNF123_ENST00000432042.1_Missense_Mutation_p.D59H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	205	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GATTGACCTGGATGATGGCAC	0.622													6	33					0	0	0	0	C	49736230	G	C	49736230	3	2	423	1	0	0	0	0	1	0	0	0	13518	1174	41	2	643	2	RNF123	3	49736230	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	40023411	49736230	148286200	51	83429											
GOLGB1	2804	broad.mit.edu	37	chr3	121411137	121411137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagttgttcataactgaaCttagaattttgaatatcagc	13	15	6	7	0	2	3	2	2	0	1	3	3	3	3	1	0	3	2	1	0	6	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:121411137C>G	ENST00000393667.3	-	14	7184	c.7074G>C	c.(7072-7074)aaG>aaC	p.K2358N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.K2353N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2353					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATAACTGAACTTAGAATTTT	0.368													11	34					0	0	0	0	G	121411137	C	G	121411137	3	3	423	1	0	0	0	0	1	0	0	0	6613	564	20	4	2756	4	GOLGB1	3	121411137	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	71674907	121411137	76611293	52	83430											
UMPS	7372	broad.mit.edu	37	chr3	124454085	124454085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattagaaggaaagaaacaaAggattatggtaaaataaaag	23	8	9	1	0	0	2	0	0	0	2	0	4	0	4	0	3	1	1	0	3	11	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:124454085A>G	ENST00000232607.2	+	2	408	c.302A>G	c.(301-303)aAg>aGg	p.K101R	UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_Missense_Mutation_p.K9R	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	101	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		AAAGAAACAAAGGATTATGGT	0.338													4	12					0	0	0	0	G	124454085	A	G	124454085	3	3	423	1	0	0	0	0	1	0	0	0	17077	72	3	5	308	5	UMPS	3	124454085	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	3042948	124454085	73568345	53	83431											
ACPP	55	broad.mit.edu	37	chr3	132063882	132063882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggaattcacaagcagaaaGagaaatctaggctccaaggg	17	6	11	7	0	2	2	1	0	1	2	3	4	3	3	1	3	1	2	1	3	6	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:132063882G>C	ENST00000336375.5	+	7	850	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q|ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	254						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAAGCAGAAAGAGAAATCTAG	0.438													13	23					0	0	0	0	C	132063882	G	C	132063882	3	2	423	1	0	0	0	0	1	0	0	0	167	943	33	2	786	2	ACPP	3	132063882	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	7609797	132063882	65958548	54	83432											
PIK3CB	5291	broad.mit.edu	37	chr3	138433375	138433375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttttcgttgatttcttcgTttttactttatccaaaactg	8	21	5	7	2	1	1	0	1	1	0	4	1	2	1	1	0	2	3	1	0	4	10			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:138433375T>C	ENST00000477593.1	-	8	1310	c.1237A>G	c.(1237-1239)Acg>Gcg	p.T413A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	413	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATTTCTTCGTTTTTACTTTA	0.318													4	18					0	0	0	0	C	138433375	T	C	138433375	3	2	423	1	0	0	0	0	1	0	0	0	11986	1725	60	5	2037	5	PIK3CB	3	138433375	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	6369493	138433375	59589055	55	83433											
KPNA4	3840	broad.mit.edu	37	chr3	160245808	160245808	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggtgaatggagaagcctCaggaaaagtggcacagcatc	13	6	15	7	0	1	2	1	1	0	1	2	4	1	3	1	5	2	2	1	5	4	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:160245808C>G	ENST00000334256.4	-	8	794	c.489G>C	c.(487-489)ctG>ctC	p.L163L		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	163	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGAGAAGCCTCAGGAAAAGTG	0.358													10	28					0	0	0	0	G	160245808	C	G	160245808	2	3	423	1	0	0	0	0	0	0	0	1	8484	813	29	2		2	KPNA4	3	160245808	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	21812433	160245808	37776622	56	83434											
ALG3	10195	broad.mit.edu	37	chr3	183963045	183963045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggttgatactgaggaaGagcagcaccatggccactgg	12	6	15	8	0	0	3	0	2	0	1	0	5	0	5	2	5	3	3	2	5	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:183963045G>A	ENST00000455059.1	-	4	880	c.426C>T	c.(424-426)ctC>ctT	p.L142L	ALG3_ENST00000445626.2_Silent_p.L134L|ALG3_ENST00000397676.3_Silent_p.L182L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.L126L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	182					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACTGAGGAAGAGCAGCACCA	0.552													4	35					0	0	0	0	A	183963045	G	A	183963045	2	1	423	1	0	0	0	0	0	0	0	1	520	929	33	2		2	ALG3	3	183963045	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	23717237	183963045	14059385	57	83435											
MASP1	5648	broad.mit.edu	37	chr3	186980391	186980391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattggagaaatctgaccGgaaagtgatggacatgaagg	14	8	13	6	1	2	4	1	3	1	1	2	7	2	6	1	4	0	0	1	4	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:186980391G>A	ENST00000337774.5	-	3	744	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W|MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	119	CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AAATCTGACCGGAAAGTGATG	0.557													15	63					0	0	0	0	A	186980391	G	A	186980391	3	1	423	1	0	0	0	0	1	0	0	0	9391	1115	39	1	2745	1	MASP1	3	186980391	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	3017346	186980391	11042039	58	83436											
PIGG	54872	broad.mit.edu	37	chr4	493239	493239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcgttcctctgccagagcgGaacacggagcggagccccca	8	6	12	15	4	1	1	0	0	1	1	3	4	2	4	4	3	5	1	4	3	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:493239G>C	ENST00000453061.2	+	1	221	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q	PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|PIGG_ENST00000504346.1_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	39					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCCAGAGCGGAACACGGAGC	0.652													5	13					0	0	0	0	C	493239	G	C	493239	3	2	423	1	0	0	0	0	1	0	0	0	11960	1175	41	2	117	2	PIGG	4	493239	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08		493239	190661037	59	83437											
LAP3	51056	broad.mit.edu	37	chr4	17598725	17598725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccaacaagccgggggatGttgttagagccaaaaacggg	13	5	15	8	2	0	1	0	0	0	1	0	2	0	2	3	4	4	2	3	4	5	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:17598725G>A	ENST00000226299.4	+	9	1319	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	349					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GCCGGGGGATGTTGTTAGAGC	0.502													7	65					0	0	0	0	A	17598725	G	A	17598725	3	1	423	1	0	0	0	0	1	0	0	0	8676	1377	48	4	1079	4	LAP3	4	17598725	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	17105486	17598725	173555551	60	83438											
GPR125	166647	broad.mit.edu	37	chr4	22389445	22389445	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattctgaatggccaagttGaggccataagatttttgctg	10	13	10	8	0	1	3	0	2	1	1	1	3	1	3	3	2	1	2	3	2	3	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:22389445G>C	ENST00000334304.5	-	19	4118	c.3849C>G	c.(3847-3849)ctC>ctG	p.L1283L	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1283					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			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)				TGGCCAAGTTGAGGCCATAAG	0.433													7	45					0	0	0	0	C	22389445	G	C	22389445	2	2	423	1	0	0	0	0	0	0	0	1	6688	1277	45	2		2	GPR125	4	22389445	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	4790720	22389445	168764831	61	83439											
ANAPC4	29945	broad.mit.edu	37	chr4	25390488	25390488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctgatgaaattattaagCtcttgggagacgtcaggtaa	13	13	10	5	1	3	3	1	2	2	1	3	4	3	3	0	2	1	2	0	2	4	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:25390488C>G	ENST00000315368.3	+	7	641	c.499C>G	c.(499-501)Ctc>Gtc	p.L167V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AATTATTAAGCTCTTGGGAGA	0.294													6	23					0	0	0	0	G	25390488	C	G	25390488	3	3	423	1	0	0	0	0	1	0	0	0	604	797	28	4	521	4	ANAPC4	4	25390488	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	3001043	25390488	165763788	62	83440											
NIPAL1	152519	broad.mit.edu	37	chr4	48037979	48037979	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagatatcattgggaccctGagtggattcttcactattat	10	14	10	7	0	3	2	2	1	1	1	3	5	3	4	1	3	0	0	1	3	3	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:48037979G>C	ENST00000295461.5	+	6	1089	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398													13	38					0	0	0	0	C	48037979	G	C	48037979	2	2	423	1	0	0	0	0	0	0	0	1	10494	1277	45	2		2	NIPAL1	4	48037979	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	22647491	48037979	143116297	63	83441											
EXOC1	55763	broad.mit.edu	37	chr4	56762881	56762881	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctctctgcctaactttAgagtaaccaaataaggcaaa	14	11	6	10	0	1	1	0	0	1	1	2	1	1	1	2	1	4	3	2	1	6	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:56762881A>C	ENST00000381295.2	+	16	2301		c.e16-1		EXOC1_ENST00000346134.7_Splice_Site|EXOC1_ENST00000349598.6_Splice_Site	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1						exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCCTAACTTTAGAGTAACCAA	0.303													9	19					0	0	0	0	C	56762881	A	C	56762881	5	2	423	1	0	0	0	0	0	0	1	0	5338	434	15	5	2010	5	EXOC1	4	56762881	Splice_Site	SNP	A	TCGA-HD-8635-01A-11D-2394-08	8724902	56762881	134391395	64	83442											
SLC4A4	8671	broad.mit.edu	37	chr4	72102335	72102335	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagaggggcttccttcctCaagcatgtgtgtgatgaaga	10	10	13	8	0	1	4	1	2	0	2	3	5	3	4	2	2	1	2	2	2	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:72102335C>G	ENST00000425175.1	+	2	159	c.42C>G	c.(40-42)ctC>ctG	p.L14L	SLC4A4_ENST00000264485.5_Silent_p.L14L|SLC4A4_ENST00000351898.6_Silent_p.L14L	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	14						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTTCCTTCCTCAAGCATGTGT	0.423													6	34					0	0	0	0	G	72102335	C	G	72102335	2	3	423	1	0	0	0	0	0	0	0	1	14744	813	29	2		2	SLC4A4	4	72102335	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	15339454	72102335	119051941	65	83443											
BTC	685	broad.mit.edu	37	chr4	75675857	75675857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaacaaatcaccagaatCtgtcctctgtctcctcttag	12	12	4	13	0	6	1	2	0	4	1	8	1	7	1	3	0	1	0	3	0	4	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:75675857C>G	ENST00000395743.3	-	4	714	c.354G>C	c.(352-354)caG>caC	p.Q118H		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	118					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCACCAGAATCTGTCCTCTGT	0.378													30	75					0	0	0	0	G	75675857	C	G	75675857	3	3	423	1	0	0	0	0	1	0	0	0	1558	912	32	2	190	2	BTC	4	75675857	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	3573522	75675857	115478419	66	83444											
PRKG2	5593	broad.mit.edu	37	chr4	82058607	82058607	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccagaagcatgtatacaTacttattgtccttgaaagta	13	13	6	9	0	0	2	0	1	0	1	2	2	2	2	3	0	3	3	3	0	7	7	rs143281279		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:82058607T>A	ENST00000395578.1	-	13	1690	c.1574A>T	c.(1573-1575)tAt>tTt	p.Y525F	PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	525	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CATGTATACATACTTATTGTC	0.363													18	55					0	0	0	0	A	82058607	T	A	82058607	3	1	423	1	0	0	0	0	1	0	0	0	12603	1406	49	5	742	5	PRKG2	4	82058607	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	6382750	82058607	109095669	67	83445											
LIN54	132660	broad.mit.edu	37	chr4	83905831	83905831	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaatgggcgtggctgtaGagtcaccagtagaatttatg	11	11	14	5	1	1	2	1	0	0	2	1	3	1	3	1	3	0	3	1	3	5	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:83905831G>C	ENST00000340417.3	-	2	544	c.167C>G	c.(166-168)tCt>tGt	p.S56C	LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.S56C|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000510557.1_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	56					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S56C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CGTGGCTGTAGAGTCACCAGT	0.408													10	52					0	0	0	0	C	83905831	G	C	83905831	3	2	423	1	0	0	0	0	1	0	0	0	8864	942	33	2	2130	2	LIN54	4	83905831	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1847224	83905831	107248445	68	83446											
PPP3CA	5530	broad.mit.edu	37	chr4	101947115	101947115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttaaggttggcgtcagaGggcatggcatctctgcgagg	8	9	17	7	2	2	1	1	0	1	1	3	3	2	1	0	5	1	4	0	5	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:101947115G>A	ENST00000394854.3	-	14	2156	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	PPP3CA_ENST00000507176.1_Silent_p.P393P|PPP3CA_ENST00000523694.2_Silent_p.P424P|PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000394853.4_Silent_p.P481P	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	491					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCGTCAGAGGGCATGGCAT	0.493													30	118					0	0	0	0	A	101947115	G	A	101947115	2	1	423	1	0	0	0	0	0	0	0	1	12473	987	35	4		4	PPP3CA	4	101947115	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	18041284	101947115	89207161	69	83447											
ANK2	287	broad.mit.edu	37	chr4	114274830	114274830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaagacatacccccagatGagacacagagtacacagaaa	19	3	9	10	0	0	5	0	1	0	5	0	7	0	6	2	1	2	1	2	1	4	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:114274830G>A	ENST00000357077.4	+	38	5109	c.5056G>A	c.(5056-5058)Gag>Aag	p.E1686K	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1653					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCCAGATGAGACACAGAG	0.443													6	45					0	0	0	0	A	114274830	G	A	114274830	3	1	423	1	0	0	0	0	1	0	0	0	621	1291	45	2	5271	2	ANK2	4	114274830	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	12327715	114274830	76879446	70	83448											
PCDH18	54510	broad.mit.edu	37	chr4	138451204	138451204	+	Missense_Mutation	SNP	G	G	A																															ctgtacttgtcaccgactctGcatattcaaagatcatgcac																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:138451204G>A	ENST00000344876.4	-	1	2425	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V|PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACCGACTCTGCATATTCAAA	0.428													31	104					0	0	0	0	A	138451204	G	A	138451204	3	1	423	1	0	0	0	0	1	0	0	0	11584	1319	46	4	1384	4	PCDH18	4	138451204	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	24176374	138451204	52703072	71	83449	1054	2									
PCDH18	54510	broad.mit.edu	37	chr4	138451205	138451205	+	Missense_Mutation	SNP	C	C	T																															tgtacttgtcaccgactctgCatattcaaagatcatgcact																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:138451205C>T	ENST00000344876.4	-	1	2424	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T|PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCGACTCTGCATATTCAAAG	0.423													31	104					0	0	0	0	T	138451205	C	T	138451205	3	4	423	1	0	0	0	0	1	0	0	0	11584	710	25	4	1385	4	PCDH18	4	138451205	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	1	138451205	52703071	72	83450	1054	2									
RAB33B	83452	broad.mit.edu	37	chr4	140393939	140393939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcgtgtatgatatgAccaacatggctagttttcat	9	17	8	7	1	2	2	1	2	1	0	3	2	2	2	1	1	1	3	1	1	4	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:140393939A>G	ENST00000305626.5	+	2	738	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	117					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GTATGATATGACCAACATGGC	0.408													15	32					0	0	0	0	G	140393939	A	G	140393939	3	3	423	1	0	0	0	0	1	0	0	0	13005	275	10	5	355	5	RAB33B	4	140393939	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	1942734	140393939	50760337	73	83451											
TTC29	83894	broad.mit.edu	37	chr4	147824762	147824762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcccacagtcaatttTgatcagctgagcaatcttaa	11	15	5	10	0	4	2	2	2	2	0	5	2	5	2	1	0	2	2	1	0	3	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:147824762T>C	ENST00000513335.1	-	7	797	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	TTC29_ENST00000398886.4_Missense_Mutation_p.K200E|TTC29_ENST00000325106.4_Missense_Mutation_p.K174E			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	174							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CAGTCAATTTTGATCAGCTGA	0.438													4	7					0	0	0	0	C	147824762	T	C	147824762	3	2	423	1	0	0	0	0	1	0	0	0	16792	1821	63	5	939	5	TTC29	4	147824762	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	7430823	147824762	43329514	74	83452											
LPCAT1	79888	broad.mit.edu	37	chr5	1463913	1463913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtacaggtattcctctgcGaaggcagggtacatttctgc	8	11	13	9	1	2	0	0	0	2	0	3	1	3	0	1	4	4	4	1	4	4	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:1463913G>A	ENST00000283415.3	-	14	1590	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	486	EF-hand 2.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.F486F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATTCCTCTGCGAAGGCAGGGT	0.527													24	135					0	0	0	0	A	1463913	G	A	1463913	2	1	423	1	0	0	0	0	0	0	0	1	8974	1049	37	1		1	LPCAT1	5	1463913	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08		1463913	179451347	75	83453											
FASTKD3	79072	broad.mit.edu	37	chr5	7861342	7861342	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgtttgctattggagcAaaacctttttggaccatcaa	12	14	8	7	0	1	0	1	0	0	0	1	2	1	2	2	2	3	3	2	2	5	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:7861342A>G	ENST00000264669.5	-	6	1940	c.1804T>C	c.(1804-1806)Tgc>Cgc	p.C602R	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	602	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTATTGGAGCAAAACCTTTTT	0.299													12	48					0	0	0	0	G	7861342	A	G	7861342	3	3	423	1	0	0	0	0	1	0	0	0	5732	130	5	5	192	5	FASTKD3	5	7861342	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	6397429	7861342	173053918	76	83454											
NNT	23530	broad.mit.edu	37	chr5	43628388	43628389	+	Frame_Shift_Ins	INS	-	-	T																															ggtgagggacaaggaggataINStgcaaaagagatgtccaaag																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:43628388_43628389insT	ENST00000264663.5	+	7	1084_1085	c.863_864insT	c.(862-864)tgcfs	p.C288fs	NNT_ENST00000512996.2_Frame_Shift_Ins_p.C157fs|NNT_ENST00000344920.4_Frame_Shift_Ins_p.C288fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	288					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CAAGGAGGATATGCAAAAGAGA	0.455													37	58	---	---	---	---					T	43628389	-	T	43628388	7	5	423	1	0	1	1	0	0	0	0	0	10580	449	16	0	885	0	NNT	5	43628388	Frame_Shift_Ins	INS	-	TCGA-HD-8635-01A-11D-2394-08	35767046	43628388	137286872	77	83455											
CENPK	64105	broad.mit.edu	37	chr5	64824348	64824348	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactcgcccaaggtactcaaGagtttctccttatattcttt	10	15	5	11	1	3	1	1	0	2	1	5	1	3	1	2	1	2	2	2	1	6	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:64824348G>C	ENST00000396679.1	-	9	742	c.528C>G	c.(526-528)ctC>ctG	p.L176L	CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000514814.1_Silent_p.L176L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	176					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AGGTACTCAAGAGTTTCTCCT	0.269													4	13					0	0	0	0	C	64824348	G	C	64824348	2	2	423	1	0	0	0	0	0	0	0	1	3264	929	33	2		2	CENPK	5	64824348	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	21195960	64824348	116090912	78	83456											
MEGF10	84466	broad.mit.edu	37	chr5	126754881	126754881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcctctcgctgtggctgtAaaaatgatgcagtctgctct	7	14	10	10	1	3	1	0	1	3	0	5	1	4	1	1	1	2	6	1	1	3	2	rs79671291		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:126754881A>G	ENST00000274473.6	+	12	1642	c.1375A>G	c.(1375-1377)Aaa>Gaa	p.K459E	MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E|MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E|MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	459	EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGTGGCTGTAAAAATGATGC	0.463													23	77					0	0	0	0	G	126754881	A	G	126754881	3	3	423	1	0	0	0	0	1	0	0	0	9529	363	13	5	1413	5	MEGF10	5	126754881	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	61930533	126754881	54160379	79	83457											
PCDHA1	56147	broad.mit.edu	37	chr5	140167367	140167367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattcgctggtggaacggCgggtgggcgagcgcgcgctg	4	7	19	11	7	0	0	0	0	0	0	1	2	0	1	1	5	2	2	1	5	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140167367C>T	ENST00000504120.2	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W	NM_018900.2	NP_061723.1												p.R498W(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAACGGCGGGTGGGCGA	0.672													36	95					0	0	0	0	T	140167367	C	T	140167367	3	4	423	1	0	0	0	0	1	0	0	0	11590	759	27	1	1494	1	PCDHA1	5	140167367	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	13412486	140167367	40747893	80	83458											
PCDHA6	56142	broad.mit.edu	37	chr5	140209569	140209569	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtacacgggcgagatCagcaccactcgtgtcctgga	8	7	14	12	3	1	1	1	0	0	1	3	3	2	2	2	3	2	3	2	3	1	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140209569C>A	ENST00000529310.1	+	1	2007	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGATCAGCACCACTC	0.672													18	103					1.56452e-12	1.77353e-12	1	0	A	140209569	C	A	140209569	2	1	423	1	0	0	0	0	0	0	0	1	11599	816	29	2		2	PCDHA6	5	140209569	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	42202	140209569	40705691	81	83459											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751494	140751494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtgagcgcgcggagCggggtggtgttcgcgcagcg	3	7	21	10	8	0	1	0	1	0	0	2	2	1	2	1	4	3	2	1	4	0	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140751494C>T	ENST00000576222.1	+	1	1664	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGGAGCGGGGTGGTGT	0.667													13	72					0	0	0	0	T	140751494	C	T	140751494	2	4	423	1	0	0	0	0	0	0	0	1	11635	767	27	1		1	PCDHGB3	5	140751494	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	541925	140751494	40163766	82	83460											
ARHGAP26	23092	broad.mit.edu	37	chr5	142513633	142513633	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtcctgcagcgagaggccCctgacgctcttccacaccgt	6	7	10	18	4	1	2	0	1	1	1	3	3	3	2	6	1	2	2	6	1	0	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:142513633C>G	ENST00000378004.3	+	19	2155	c.1800C>G	c.(1798-1800)ccC>ccG	p.P600P	ARHGAP26_ENST00000274498.4_Silent_p.P600P	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	600	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGAGAGGCCCCTGACGCTCT	0.577													26	93					0	0	0	0	G	142513633	C	G	142513633	2	3	423	1	0	0	0	0	0	0	0	1	877	610	22	4		4	ARHGAP26	5	142513633	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	1762139	142513633	38401627	83	83461											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040883	147040883	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttctccctcacagcctgCagctccttcatcttctcctc	5	13	5	18	0	5	0	2	0	3	0	9	0	6	0	4	1	3	3	4	1	0	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:147040883C>A	ENST00000265272.5	-	3	722	c.255G>T	c.(253-255)ctG>ctT	p.L85L	JAKMIP2_ENST00000333010.6_Silent_p.L43L|JAKMIP2_ENST00000507386.1_Silent_p.L85L	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	85						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCCTGCAGCTCCTTCA	0.537													42	143					6.2361e-21	7.23486e-21	1	0	A	147040883	C	A	147040883	2	1	423	1	0	0	0	0	0	0	0	1	7994	697	25	4		4	JAKMIP2	5	147040883	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	4527250	147040883	33874377	84	83462											
SPINK14	408187	broad.mit.edu	37	chr5	147553847	147553847	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggtacaatggaacggtCaacccctgccctggcttata	10	9	10	12	1	1	0	1	0	0	0	1	1	1	1	3	4	5	3	3	4	6	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:147553847C>G	ENST00000356972.1	+	3	162	c.162C>G	c.(160-162)gtC>gtG	p.V54V	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	54	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|large_intestine(1)|lung(1)	3						ATGGAACGGTCAACCCCTGCC	0.413													16	19					0	0	0	0	G	147553847	C	G	147553847	2	3	423	1	0	0	0	0	0	0	0	1	15149	813	29	2		2	SPINK14	5	147553847	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	512964	147553847	33361413	85	83463											
FAM114A2	10827	broad.mit.edu	37	chr5	153382442	153382442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgacttgctcagtattttCtgcttccgactgtttttctc	4	20	7	10	1	3	1	1	1	2	0	5	2	4	1	1	0	2	5	1	0	1	8			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:153382442C>G	ENST00000351797.4	-	10	1157	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	361							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCAGTATTTTCTGCTTCCGAC	0.383													22	92					0	0	0	0	G	153382442	C	G	153382442	3	3	423	1	0	0	0	0	1	0	0	0	5445	922	32	2	456	2	FAM114A2	5	153382442	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	5828595	153382442	27532818	86	83464											
ATP10B	23120	broad.mit.edu	37	chr5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctatattcatgcgcCgctcaatcttgctgcgtttg	7	15	9	10	3	4	1	2	0	2	1	4	1	4	1	1	0	3	3	1	0	3	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478													26	98					0	0	0	0	T	160067536	C	T	160067536	3	4	423	1	0	0	0	0	1	0	0	0	1121	652	23	1	3521	1	ATP10B	5	160067536	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	6685094	160067536	20847724	87	83465											
CDHR2	54825	broad.mit.edu	37	chr5	176018456	176018456	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgggcttggagtacctCtctccctccaatgacctgga	7	10	10	14	0	1	1	0	1	1	0	4	4	3	3	5	3	1	2	5	3	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:176018456C>A	ENST00000510636.1	+	30	3979	c.3705C>A	c.(3703-3705)ctC>ctA	p.L1235L	CDHR2_ENST00000506348.1_Silent_p.L1235L|CDHR2_ENST00000261944.5_Silent_p.L1235L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1235					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGAGTACCTCTCTCCCTCCA	0.602													18	62					6.94344e-10	7.66618e-10	1	0	A	176018456	C	A	176018456	2	1	423	1	0	0	0	0	0	0	0	1	3148	900	32	2		2	CDHR2	5	176018456	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	15950920	176018456	4896804	88	83466											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217509	26217509	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctaggtcgcgtgaccAtcgcgcagggcggtgtcctg	5	9	15	12	5	1	1	0	1	1	0	4	1	2	1	2	3	1	2	2	3	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:26217509A>T	ENST00000303910.2	+	1	345	c.307A>T	c.(307-309)Atc>Ttc	p.I103F		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	103					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCGCGTGACCATCGCGCAGGG	0.577													19	69					0	0	0	0	T	26217509	A	T	26217509	3	4	423	1	0	0	0	0	1	0	0	0	7182	217	8	5	309	5	HIST1H2AE	6	26217509	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08		26217509	144897558	89	83467											
PRSS16	10279	broad.mit.edu	37	chr6	27222600	27222600	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtggctcagacgaacTcctactacggtggccagacc	9	7	12	13	2	1	2	1	0	0	2	2	3	2	2	3	4	3	2	3	4	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:27222600T>A	ENST00000230582.3	+	10	1294	c.1279T>A	c.(1279-1281)Tcc>Acc	p.S427T	PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	427					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCAGACGAACTCCTACTACGG	0.567													24	88					0	0	0	0	A	27222600	T	A	27222600	3	1	423	1	0	0	0	0	1	0	0	0	12695	1551	54	5	1317	5	PRSS16	6	27222600	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	1005091	27222600	143892467	90	83468											
EGFL8	80864	broad.mit.edu	37	chr6	32134035	32134035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggccaagggtggatccctCagagagaggtgacaacagag	12	4	17	8	0	1	4	1	1	0	3	2	6	2	5	2	5	1	0	2	5	2	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:32134035C>T	ENST00000395512.1	+	2	198	c.93C>T	c.(91-93)ctC>ctT	p.L31L	PPT2-EGFL8_ENST00000422437.1_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR|EGFL8_ENST00000333845.6_Silent_p.L31L			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	31						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GTGGATCCCTCAGAGAGAGGT	0.592													7	38					0	0	0	0	T	32134035	C	T	32134035	2	4	423	1	0	0	0	0	0	0	0	1	5001	813	29	2		2	EGFL8	6	32134035	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	4911435	32134035	138981032	91	83469											
AGER	177	broad.mit.edu	37	chr6	32148967	32148967	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctcaggttcctccgactGattcagttctgcacgctcct	5	13	8	15	2	3	1	2	1	1	0	6	2	6	1	4	1	2	4	4	1	0	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:32148967G>A	ENST00000375076.4	-	11	1269	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280*|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|AGER_ENST00000375065.5_3'UTR	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	390					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCGACTGATTCAGTTCT	0.572													62	206					0	0	0	0	A	32148967	G	A	32148967	4	1	423	1	0	0	0	0	0	1	0	0	379	1303	45	2	50	2	AGER	6	32148967	Nonsense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	14932	32148967	138966100	92	83470											
DEF6	50619	broad.mit.edu	37	chr6	35280093	35280093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaggtggaatacctgctGaaaaaggtactcagcagcat	13	8	10	10	0	1	1	1	1	0	0	2	2	2	2	2	3	5	4	2	3	5	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:35280093G>A	ENST00000316637.5	+	4	443	c.438G>A	c.(436-438)ctG>ctA	p.L146L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	146						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AATACCTGCTGAAAAAGGTAC	0.612													20	48					0	0	0	0	A	35280093	G	A	35280093	2	1	423	1	0	0	0	0	0	0	0	1	4418	1277	45	2		2	DEF6	6	35280093	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	3131126	35280093	135834974	93	83471											
FKBP5	2289	broad.mit.edu	37	chr6	35544861	35544861	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctttttctggcacatGgagatctgcagtcttgcagc	6	14	11	10	0	3	1	0	0	3	1	3	2	3	1	1	3	3	3	1	3	0	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:35544861G>C	ENST00000536438.1	-	11	1491	c.1176C>G	c.(1174-1176)tcC>tcG	p.S392S	FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000539068.1_Silent_p.S392S|FKBP5_ENST00000357266.4_Silent_p.S392S	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	392					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCTGGCACATGGAGATCTGCA	0.517													26	68					0	0	0	0	C	35544861	G	C	35544861	2	2	423	1	0	0	0	0	0	0	0	1	5956	1335	47	4		4	FKBP5	6	35544861	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	264768	35544861	135570206	94	83472											
BMP5	653	broad.mit.edu	37	chr6	55739531	55739531	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcccgtctttcgtggtTccgtagtcttctataaataa	8	18	6	9	3	3	0	0	0	3	0	6	0	5	0	2	1	0	2	2	1	6	9			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:55739531T>G	ENST00000370830.3	-	1	831	c.133A>C	c.(133-135)Aac>Cac	p.N45H	BMP5_ENST00000446683.2_Missense_Mutation_p.N45H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463													24	68					0	0	0	0	G	55739531	T	G	55739531	3	3	423	1	0	0	0	0	1	0	0	0	1468	1783	62	5	1259	5	BMP5	6	55739531	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	20194670	55739531	115375536	95	83473											
EEF1A1	1915	broad.mit.edu	37	chr6	74228666	74228666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccacttacgttagcacttgGctccagcatgttgtcaccat	8	12	8	13	1	1	0	1	0	0	0	2	0	2	0	3	1	3	5	3	1	2	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:74228666G>C	ENST00000316292.9	-	3	1601	c.610C>G	c.(610-612)Cca>Gca	p.P204A	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	204						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTAGCACTTGGCTCCAGCATG	0.428											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	36					0	0	0	0	C	74228666	G	C	74228666	3	2	423	1	0	0	0	0	1	0	0	0	4959	1203	42	4	798	4	EEF1A1	6	74228666	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	18489135	74228666	96886401	96	83474											
HMGN3	9324	broad.mit.edu	37	chr6	79912025	79912025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtttcaccattttcagatgGtgcagtaccttcctttccag	8	15	7	11	0	2	1	2	0	0	1	4	1	4	1	4	1	2	3	4	1	1	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:79912025G>A	ENST00000344726.5	-	5	357	c.229C>T	c.(229-231)Cca>Tca	p.P77S	HMGN3_ENST00000275036.7_Intron	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	77					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		TTTTCAGATGGTGCAGTACCT	0.418													19	99					0	0	0	0	A	79912025	G	A	79912025	3	1	423	1	0	0	0	0	1	0	0	0	7286	1261	44	4	78	4	HMGN3	6	79912025	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	5683359	79912025	91203042	97	83475											
ELOVL4	6785	broad.mit.edu	37	chr6	80634736	80634736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctatatcccgcattatatGatcccatgaataactggaaa	15	11	6	9	1	0	2	0	2	0	0	2	3	2	3	2	1	2	2	2	1	7	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:80634736G>A	ENST00000369816.4	-	3	602	c.302C>T	c.(301-303)tCa>tTa	p.S101L		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	101					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CGCATTATATGATCCCATGAA	0.279													6	25					0	0	0	0	A	80634736	G	A	80634736	3	1	423	1	0	0	0	0	1	0	0	0	5114	1294	45	2	658	2	ELOVL4	6	80634736	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	722711	80634736	90480331	98	83476											
SIM1	6492	broad.mit.edu	37	chr6	100838251	100838251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacatcagcttccgttggTtattataacagatgttccct	12	14	6	9	1	1	1	1	0	0	1	3	1	3	1	2	1	3	4	2	1	5	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:100838251T>C	ENST00000369208.3	-	12	3069	c.2287A>G	c.(2287-2289)Acc>Gcc	p.T763A	SIM1_ENST00000262901.4_Missense_Mutation_p.T763A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	763	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTCCGTTGGTTATTATAACA	0.393													17	56					0	0	0	0	C	100838251	T	C	100838251	3	2	423	1	0	0	0	0	1	0	0	0	14411	1725	60	5	17	5	SIM1	6	100838251	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	20203515	100838251	70276816	99	83477											
MOXD1	26002	broad.mit.edu	37	chr6	132645203	132645203	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttccttatatccattgtgTaaaataacctcagtccagaa	14	14	4	9	0	1	1	1	0	0	1	4	1	4	1	4	0	1	1	4	0	6	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:132645203T>A	ENST00000367963.3	-	7	1098	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	327					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATCCATTGTGTAAAATAACCT	0.398													14	45					0	0	0	0	A	132645203	T	A	132645203	3	1	423	1	0	0	0	0	1	0	0	0	9790	1638	57	5	885	5	MOXD1	6	132645203	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	31806952	132645203	38469864	100	83478											
SHPRH	257218	broad.mit.edu	37	chr6	146276246	146276246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccacttttgaacacctCttcttatctctgtgagccac	8	14	4	15	0	4	2	1	2	3	0	5	2	4	2	3	0	2	0	3	0	2	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:146276246C>T	ENST00000367503.3	-	2	611	c.213G>A	c.(211-213)aaG>aaA	p.K71K	SHPRH_ENST00000275233.7_Silent_p.K71K|SHPRH_ENST00000367505.2_Silent_p.K71K|SHPRH_ENST00000438092.2_Silent_p.K71K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	71					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGAACACCTCTTCTTATCTC	0.388													8	64					0	0	0	0	T	146276246	C	T	146276246	2	4	423	1	0	0	0	0	0	0	0	1	14379	912	32	2		2	SHPRH	6	146276246	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	13631043	146276246	24838821	101	83479											
OPRM1	4988	broad.mit.edu	37	chr6	154360714	154360714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcccccacgaacgccagcaAttgcactgatgccttggcgt	8	8	10	15	3	0	1	0	1	0	0	0	2	0	1	4	1	5	2	4	1	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:154360714A>G	ENST00000414028.2	+	1	85	c.35A>G	c.(34-36)aAt>aGt	p.N12S	OPRM1_ENST00000330432.7_Missense_Mutation_p.N12S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	12					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AACGCCAGCAATTGCACTGAT	0.632													6	26					0	0	0	0	G	154360714	A	G	154360714	3	3	423	1	0	0	0	0	1	0	0	0	10958	101	4	5	371	5	OPRM1	6	154360714	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	8084468	154360714	16754353	102	83480											
IGF2R	3482	broad.mit.edu	37	chr6	160464244	160464244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaagaagcattttttCattaatatttgtcacagagt	15	14	7	5	0	2	3	2	0	0	3	2	4	2	3	0	0	1	1	0	0	4	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:160464244C>A	ENST00000356956.1	+	12	1693	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	515					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGCATTTTTTCATTAATATTT	0.478													23	62					2.89027e-11	3.2271e-11	1	0	A	160464244	C	A	160464244	3	1	423	1	0	0	0	0	1	0	0	0	7629	825	29	2	1591	2	IGF2R	6	160464244	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	6103530	160464244	10650823	103	83481											
IGF2R	3482	broad.mit.edu	37	chr6	160525931	160525931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggagctggggcagagAgctcccacccagtgagaaac	11	3	16	11	0	0	2	0	1	0	2	1	5	1	3	2	4	3	4	2	4	1	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:160525931A>T	ENST00000356956.1	+	48	7439	c.7291A>T	c.(7291-7293)Agc>Tgc	p.S2431C	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2431					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGGGCAGAGAGCTCCCACCC	0.607													22	78					0	0	0	0	T	160525931	A	T	160525931	3	4	423	1	0	0	0	0	1	0	0	0	7629	304	11	5	7481	5	IGF2R	6	160525931	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	61687	160525931	10589136	104	83482											
MAP3K4	4216	broad.mit.edu	37	chr6	161455314	161455314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagggcacattgggagattCagcttgcaagagtcctgaat	12	9	13	7	0	1	4	1	1	0	3	2	5	2	4	1	2	2	3	1	2	2	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:161455314C>T	ENST00000392142.4	+	2	324	c.176C>T	c.(175-177)tCa>tTa	p.S59L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	59					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTGGGAGATTCAGCTTGCAAG	0.398													12	38					0	0	0	0	T	161455314	C	T	161455314	3	4	423	1	0	0	0	0	1	0	0	0	9321	838	29	2	182	2	MAP3K4	6	161455314	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	929383	161455314	9659753	105	83483											
RNASET2	8635	broad.mit.edu	37	chr6	167343140	167343140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagactctcagacccCggctctcggcggccccattt	6	9	8	18	3	3	2	2	0	2	2	5	2	3	2	4	3	0	1	4	3	0	2	rs146590748	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:167343140C>T	ENST00000366855.6	-	10	1268	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q|RNASET2_ENST00000508775.1_Missense_Mutation_p.R236Q|RP11-514O12.4_ENST00000507747.1_Intron			O00584	RNT2_HUMAN	ribonuclease T2	236					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	p.R236L(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TCTCAGACCCCGGCTCTCGGC	0.542													14	275					0	0	0	0	T	167343140	C	T	167343140	3	4	423	1	0	0	0	0	1	0	0	0	13503	652	23	1	67	1	RNASET2	6	167343140	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	5887826	167343140	3771927	106	83484											
FRMD1	79981	broad.mit.edu	37	chr6	168475980	168475980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgctcgccacgttgcaCacttgctggaaaagctcgcg	8	9	11	13	4	0	1	0	1	0	0	2	2	0	2	1	1	4	5	1	1	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:168475980C>T	ENST00000283309.6	-	2	313	c.249G>A	c.(247-249)gtG>gtA	p.V83V	FRMD1_ENST00000440994.2_Silent_p.V15V	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	83	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCACGTTGCACACTTGCTGGA	0.632													13	89					0	0	0	0	T	168475980	C	T	168475980	2	4	423	1	0	0	0	0	0	0	0	1	6097	465	17	4		4	FRMD1	6	168475980	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	1132840	168475980	2639087	107	83485											
TCTE3	6991	broad.mit.edu	37	chr6	170143280	170143280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtatgcggtctgccaattCaagtgacaagtgagagaata	14	9	11	7	1	2	3	1	2	1	1	2	4	2	3	1	1	2	1	1	1	6	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:170143280C>T	ENST00000366774.3	-	3	482	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	128					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TCTGCCAATTCAAGTGACAAG	0.294													7	40					0	0	0	0	T	170143280	C	T	170143280	3	4	423	1	0	0	0	0	1	0	0	0	15812	835	29	2	222	2	TCTE3	6	170143280	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	1667300	170143280	971787	108	83486											
AHR	196	broad.mit.edu	37	chr7	17379208	17379208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatcctgacgtatgtccaaGattctttaagtaagtctccc	12	13	6	10	1	2	2	0	1	2	1	5	2	4	2	3	0	0	2	3	0	5	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:17379208G>C	ENST00000242057.4	+	10	2402	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	587					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GTATGTCCAAGATTCTTTAAG	0.393													18	71					0	0	0	0	C	17379208	G	C	17379208	3	2	423	1	0	0	0	0	1	0	0	0	416	942	33	2	1797	2	AHR	7	17379208	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08		17379208	141759455	109	83487											
ELMO1	9844	broad.mit.edu	37	chr7	36895204	36895204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgggctccttgggaatCggcggaggtgcgtcagggat	5	10	18	8	3	1	0	1	0	0	0	3	3	2	3	1	6	2	2	1	6	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:36895204C>T	ENST00000310758.4	-	22	2783	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P	ELMO1_ENST00000448602.1_Silent_p.P712P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000396045.3_Silent_p.P232P|ELMO1_ENST00000341056.3_Silent_p.P414P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	712					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGGGAATCGGCGGAGGTG	0.567													14	73					0	0	0	0	T	36895204	C	T	36895204	2	4	423	1	0	0	0	0	0	0	0	1	5103	871	31	1		1	ELMO1	7	36895204	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	19515996	36895204	122243459	110	83488											
WBSCR28	135886	broad.mit.edu	37	chr7	73275545	73275545	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggaggcccttcctccagtCagatccagccttttggggat	7	11	11	12	0	1	1	1	0	0	1	4	3	4	3	5	4	1	0	5	4	0	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:73275545C>G	ENST00000320531.2	+	1	57	c.21C>G	c.(19-21)gtC>gtG	p.V7V		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	7						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TTCCTCCAGTCAGATCCAGCC	0.617													16	49					0	0	0	0	G	73275545	C	G	73275545	2	3	423	1	0	0	0	0	0	0	0	1	17363	813	29	2		2	WBSCR28	7	73275545	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	36380341	73275545	85863118	111	83489											
AP4M1	9179	broad.mit.edu	37	chr7	99699579	99699579	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactgccaggagacgagtcCccggttgtcatggtaaccag	9	7	14	11	2	1	1	1	0	0	1	2	4	2	2	4	4	2	2	4	4	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:99699579C>A	ENST00000429084.1	+	2	293	c.135C>A	c.(133-135)tcC>tcA	p.S45S	AP4M1_ENST00000421755.1_Silent_p.S45S|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000359593.4_Silent_p.S45S			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	45					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGACGAGTCCCCGGTTGTCA	0.682													12	47					4.36969e-10	4.84253e-10	1	0	A	99699579	C	A	99699579	2	1	423	1	0	0	0	0	0	0	0	1	754	610	22	4		4	AP4M1	7	99699579	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	26424034	99699579	59439084	112	83490											
SPDYE3	441272	broad.mit.edu	37	chr7	99912207	99912207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttggctgcaaaaggaaGagggagtgtttggatgaatc	11	10	14	6	0	0	2	0	1	0	1	2	5	1	5	1	4	1	3	1	4	4	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:99912207G>T	ENST00000332397.6	+	6	1219	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	345										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GCAAAAGGAAGAGGGAGTGTT	0.577													14	28					3.51602e-12	3.97056e-12	1	0	T	99912207	G	T	99912207	3	4	423	1	0	0	0	0	1	0	0	0	15120	933	33	2	1057	2	SPDYE3	7	99912207	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	212628	99912207	59226456	113	83491											
SRRT	51593	broad.mit.edu	37	chr7	100482979	100482979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccaacatctcccgggcCgagatcatctccgtgagtgg	7	7	12	15	4	3	2	1	1	2	1	5	3	3	2	4	2	1	0	4	2	1	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:100482979C>T	ENST00000388793.4	+	10	1522	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	SRRT_ENST00000347433.4_Silent_p.A435A|SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000432932.1_Silent_p.A434A	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	435					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCTCCCGGGCCGAGATCATCT	0.652													13	44					0	0	0	0	T	100482979	C	T	100482979	2	4	423	1	0	0	0	0	0	0	0	1	15262	639	23	1		1	SRRT	7	100482979	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	570772	100482979	58655684	114	83492											
SLC26A4	5172	broad.mit.edu	37	chr7	107350640	107350640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaaggttccattttagAaacggtaaatattcaacctt	13	13	8	7	1	2	1	2	0	0	1	3	1	3	1	2	3	2	2	2	3	7	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107350640A>G	ENST00000265715.3	+	19	2455	c.2231A>G	c.(2230-2232)gAa>gGa	p.E744G	SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G|SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	744					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						TCCATTTTAGAAACGGTAAAT	0.343									Pendred syndrome				5	22					0	0	0	0	G	107350640	A	G	107350640	3	3	423	1	0	0	0	0	1	0	0	0	14607	246	9	5	2301	5	SLC26A4	7	107350640	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	6867661	107350640	51788023	115	83493											
LAMB1	3912	broad.mit.edu	37	chr7	107603497	107603498	+	Frame_Shift_Ins	INS	-	-	A																															ggatatattgccgctccactINSatgctaaccccctgagggca																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107603497_107603498insA	ENST00000393561.1	-	13	1965_1966	c.1781_1782insT	c.(1780-1782)agtfs	p.S594fs	LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.S570fs|LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.S570fs			P07942	LAMB1_HUMAN	laminin, beta 1	570	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGCTCCACTATGCTAACCCC	0.45													30	75	---	---	---	---					A	107603498	-	A	107603497	7	5	423	1	0	1	1	0	0	0	0	0	8663	1512	53	0	3730	0	LAMB1	7	107603497	Frame_Shift_Ins	INS	-	TCGA-HD-8635-01A-11D-2394-08	252857	107603497	51535166	116	83494											
LAMB4	22798	broad.mit.edu	37	chr7	107692621	107692621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaagaggtctgcttcattCtttgctctttctattgtatc	7	19	7	8	0	5	1	1	0	4	1	6	1	5	1	0	1	2	4	0	1	3	8			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107692621C>G	ENST00000388781.3	-	26	3920	c.3837G>C	c.(3835-3837)aaG>aaC	p.K1279N	LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N|LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1279	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCTTCATTCTTTGCTCTTT	0.358													15	55					0	0	0	0	G	107692621	C	G	107692621	3	3	423	1	0	0	0	0	1	0	0	0	8666	912	32	2	1484	2	LAMB4	7	107692621	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	89124	107692621	51446042	117	83495											
LAMB4	22798	broad.mit.edu	37	chr7	107707040	107707040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatccttgaggatggcagtGacatgctggatgaagcaaag	12	9	14	6	0	0	4	0	4	0	0	1	6	1	6	1	3	2	3	1	3	2	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107707040G>C	ENST00000388781.3	-	20	2535	c.2452C>G	c.(2452-2454)Cac>Gac	p.H818D	LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D|LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	818	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGATGGCAGTGACATGCTGGA	0.527													3	16					0	0	0	0	C	107707040	G	C	107707040	3	2	423	1	0	0	0	0	1	0	0	0	8666	1290	45	2	2893	2	LAMB4	7	107707040	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	14419	107707040	51431623	118	83496											
KCND2	3751	broad.mit.edu	37	chr7	119915214	119915214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtctggagggccttcgaGaacccccacaccagcacgat	10	5	12	14	2	1	1	0	0	1	1	2	4	1	2	4	3	2	1	4	3	1	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:119915214G>C	ENST00000331113.4	+	1	1493	c.528G>C	c.(526-528)gaG>gaC	p.E176D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	176					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGGCCTTCGAGAACCCCCACA	0.617													16	38					0	0	0	0	C	119915214	G	C	119915214	3	2	423	1	0	0	0	0	1	0	0	0	8072	933	33	2	530	2	KCND2	7	119915214	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	12208174	119915214	39223449	119	83497											
PTPRZ1	5803	broad.mit.edu	37	chr7	121612621	121612621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatctcactaatgactacCgtgtcagcggaggagtttca	11	12	9	9	2	3	1	3	1	1	0	4	3	3	3	1	2	2	1	1	2	3	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:121612621C>A	ENST00000393386.2	+	4	742	c.331C>A	c.(331-333)Cgt>Agt	p.R111S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	111	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						TAATGACTACCGTGTCAGCGG	0.333													12	29					2.27111e-07	2.40043e-07	1	0	A	121612621	C	A	121612621	3	1	423	1	0	0	0	0	1	0	0	0	12896	652	23	3	345	3	PTPRZ1	7	121612621	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	1697407	121612621	37526042	120	83498											
HYAL4	23553	broad.mit.edu	37	chr7	123508372	123508372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaagctttgtgttgttcaAccagtacatctcacttcatg	10	16	6	9	0	3	0	3	0	1	0	4	0	3	0	1	0	3	4	1	0	4	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:123508372A>T	ENST00000223026.4	+	3	683	c.45A>T	c.(43-45)caA>caT	p.Q15H	HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	15					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTGTTGTTCAACCAGTACATC	0.343													10	37					0	0	0	0	T	123508372	A	T	123508372	3	4	423	1	0	0	0	0	1	0	0	0	7519	40	2	5	47	5	HYAL4	7	123508372	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	1895751	123508372	35630291	121	83499											
SPAM1	6677	broad.mit.edu	37	chr7	123594531	123594531	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccacttccggtttttgcaTatacccgcatagtttttact	7	17	6	11	2	0	0	0	0	0	0	2	0	2	0	3	1	3	4	3	1	4	9			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:123594531T>A	ENST00000340011.5	+	3	1264	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	303					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGTTTTTGCATATACCCGCAT	0.403													8	26					0	0	0	0	A	123594531	T	A	123594531	3	1	423	1	0	0	0	0	1	0	0	0	15076	1406	49	5	909	5	SPAM1	7	123594531	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	86159	123594531	35544132	122	83500											
MGAM	8972	broad.mit.edu	37	chr7	141736626	141736626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctatttcctcccaggacCaggatcctgcctcctttgga	6	12	7	16	0	0	0	0	0	0	0	5	3	5	3	7	3	1	0	7	3	1	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:141736626C>A	ENST00000475668.2	+	18	2134	c.2080C>A	c.(2080-2082)Cag>Aag	p.Q694K	MGAM_ENST00000549489.2_Missense_Mutation_p.Q694K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	694	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCCAGGACCAGGATCCTGC	0.488													40	115					7.53189e-24	8.80698e-24	1	0	A	141736626	C	A	141736626	3	1	423	1	0	0	0	0	1	0	0	0	9610	595	21	4	2146	4	MGAM	7	141736626	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	18142095	141736626	17402037	123	83501											
ZNF862	643641	broad.mit.edu	37	chr7	149558224	149558224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaagagtcctacatcactCtggcccctctctacagtgag	10	10	8	13	0	3	3	1	2	2	1	5	3	4	3	3	1	2	0	3	1	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:149558224C>G	ENST00000223210.4	+	7	2220	c.1975C>G	c.(1975-1977)Ctg>Gtg	p.L659V		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTACATCACTCTGGCCCCTCT	0.587													4	23					0	0	0	0	G	149558224	C	G	149558224	3	3	423	1	0	0	0	0	1	0	0	0	18288	912	32	2	2001	2	ZNF862	7	149558224	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	7821598	149558224	9580439	124	83502											
RBM33	155435	broad.mit.edu	37	chr7	155538268	155538268	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggccccacatcagctccaAggtcagggtgattaagctgt	9	8	12	12	1	2	1	2	1	0	0	3	1	3	1	3	3	2	2	3	3	2	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:155538268A>T	ENST00000401878.3	+	14	3149	c.2951A>T	c.(2950-2952)aAg>aTg	p.K984M		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	984							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATCAGCTCCAAGGTCAGGGTG	0.522													4	12					0	0	0	0	T	155538268	A	T	155538268	3	4	423	1	0	0	0	0	1	0	0	0	13212	72	3	5	3005	5	RBM33	7	155538268	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	5980044	155538268	3600395	125	83503											
NCAPG2	54892	broad.mit.edu	37	chr7	158472660	158472660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagtacgtacatagagctCttcaaactgtttctggattt	11	15	8	7	1	3	2	1	1	2	1	3	3	3	3	0	1	4	4	0	1	5	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:158472660C>T	ENST00000409339.3	-	11	1251	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E380K			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	380					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGAGCTCTTCAAACTGT	0.433													10	80					0	0	0	0	T	158472660	C	T	158472660	3	4	423	1	0	0	0	0	1	0	0	0	10278	922	32	2	2365	2	NCAPG2	7	158472660	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	2934392	158472660	666003	126	83504											
PRKDC	5591	broad.mit.edu	37	chr8	48798592	48798592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtgttgatcgtttctgaGaacaagctatagaaatactc	12	13	8	8	2	1	3	0	2	1	2	4	4	2	3	1	0	3	3	1	0	6	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:48798592G>C	ENST00000314191.2	-	37	4742	c.4686C>G	c.(4684-4686)ttC>ttG	p.F1562L	PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1563					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCGTTTCTGAGAACAAGCTAT	0.473								Non-homologous end-joining					12	126					0	0	0	0	C	48798592	G	C	48798592	3	2	423	1	0	0	0	0	1	0	0	0	12601	933	33	2	7901	2	PRKDC	8	48798592	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08		48798592	97565430	127	83505											
NCOA2	10499	broad.mit.edu	37	chr8	71082580	71082580	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaaacacaacgttgcctTccaggttcactacaaagaag	16	7	6	12	1	1	1	1	0	0	1	2	1	2	1	2	1	4	2	2	1	5	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:71082580T>A	ENST00000452400.2	-	6	579	c.398A>T	c.(397-399)gAa>gTa	p.E133V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	133	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACGTTGCCTTCCAGGTTCAC	0.393			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								5	4					0	0	0	0	A	71082580	T	A	71082580	3	1	423	1	0	0	0	0	1	0	0	0	10299	1783	62	5	4068	5	NCOA2	8	71082580	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	22283988	71082580	75281442	128	83506											
KCNB2	9312	broad.mit.edu	37	chr8	73850106	73850106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttgcagataagcctaGtgatgggagagaccctttaa	11	12	11	7	0	0	3	0	1	0	2	0	5	0	4	2	1	3	2	2	1	3	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:73850106G>A	ENST00000523207.1	+	3	3104	c.2516G>A	c.(2515-2517)aGt>aAt	p.S839N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	839					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GATAAGCCTAGTGATGGGAGA	0.522													39	58					0	0	0	0	A	73850106	G	A	73850106	3	1	423	1	0	0	0	0	1	0	0	0	8066	1029	36	4	2522	4	KCNB2	8	73850106	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	2767526	73850106	72513916	129	83507											
TRPS1	7227	broad.mit.edu	37	chr8	116632226	116632226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctgtacctataggctccagGatctggccctcgccttcact	6	12	8	15	1	3	0	1	0	2	0	5	1	4	1	4	3	1	2	4	3	3	4	rs61758125		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:116632226G>C	ENST00000395715.3	-	3	676	c.99C>G	c.(97-99)atC>atG	p.I33M	TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M|TRPS1_ENST00000220888.5_Missense_Mutation_p.I20M|TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	20					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGCTCCAGGATCTGGCCCT	0.448									Langer-Giedion syndrome				26	58					0	0	0	0	C	116632226	G	C	116632226	3	2	423	1	0	0	0	0	1	0	0	0	16688	1164	41	2	3805	2	TRPS1	8	116632226	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	42782120	116632226	29731796	130	83508											
ADCY8	114	broad.mit.edu	37	chr8	131916134	131916134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactccttgacgatatcttCaggcaaggacagcagactgt	11	10	10	10	1	2	3	1	2	1	1	3	5	3	4	1	2	1	2	1	2	2	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:131916134C>T	ENST00000286355.5	-	7	3887	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	599					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACGATATCTTCAGGCAAGGAC	0.478										HNSCC(32;0.087)			10	84					0	0	0	0	T	131916134	C	T	131916134	3	4	423	1	0	0	0	0	1	0	0	0	300	835	29	2	2008	2	ADCY8	8	131916134	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	15283908	131916134	14447888	131	83509											
COL22A1	169044	broad.mit.edu	37	chr8	139601678	139601678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcatagccaggttccccggGttgacctggcccaaggagca	9	6	13	13	1	0	1	0	1	0	0	1	2	1	2	5	4	3	4	5	4	2	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:139601678G>C	ENST00000303045.6	-	65	5145	c.4699C>G	c.(4699-4701)Ccc>Gcc	p.P1567A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1567	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTTCCCCGGGTTGACCTGGC	0.577										HNSCC(7;0.00092)			3	15					0	0	0	0	C	139601678	G	C	139601678	3	2	423	1	0	0	0	0	1	0	0	0	3711	1261	44	4	185	4	COL22A1	8	139601678	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	7685544	139601678	6762344	132	83510											
TRAPPC9	83696	broad.mit.edu	37	chr8	141263009	141263009	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctagcttccagctcaaGaagtcgccatacaatttttc	10	13	5	13	1	2	1	1	0	1	1	6	1	4	1	3	0	3	2	3	0	5	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:141263009G>A	ENST00000389328.4	-	16	2606	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	TRAPPC9_ENST00000438773.2_Silent_p.F766F|TRAPPC9_ENST00000389327.3_Silent_p.F757F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	766					cell differentiation	endoplasmic reticulum|Golgi apparatus				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						TCCAGCTCAAGAAGTCGCCAT	0.448													8	51					0	0	0	0	A	141263009	G	A	141263009	2	1	423	1	0	0	0	0	0	0	0	1	16560	933	33	2		2	TRAPPC9	8	141263009	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1661331	141263009	5101013	133	83511											
TOP1MT	116447	broad.mit.edu	37	chr8	144398195	144398195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagattctgcatcgactTctcgaacgtactgggggttg	7	12	13	9	3	2	1	0	0	2	1	4	4	2	1	0	3	3	3	0	3	2	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:144398195T>C	ENST00000523676.1	-	12	1543	c.1138A>G	c.(1138-1140)Aag>Gag	p.K380E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.K478E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	478					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCATCGACTTCTCGAACGTA	0.607													17	143					0	0	0	0	C	144398195	T	C	144398195	3	2	423	1	0	0	0	0	1	0	0	0	16459	1792	62	5	389	5	TOP1MT	8	144398195	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	3135186	144398195	1965827	134	83512											
SCRT1	83482	broad.mit.edu	37	chr8	145557311	145557311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgtatgttttgccgcactCgccgcacgcgtgccggccgc	3	8	14	16	8	0	0	0	0	0	0	1	0	0	0	4	2	2	4	4	2	1	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:145557311C>T	ENST00000332135.4	-	2	694	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	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;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TTGCCGCACTCGCCGCACGCG	0.786													4	16					0	0	0	0	T	145557311	C	T	145557311	3	4	423	1	0	0	0	0	1	0	0	0	14028	893	31	1	467	1	SCRT1	8	145557311	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	1159116	145557311	806711	135	83513											
CNTLN	54875	broad.mit.edu	37	chr9	17366690	17366690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcaatacaagaattgaaTagatgtgtggcagagagaag	17	7	13	4	0	0	5	0	1	0	4	0	6	0	5	0	1	2	3	0	1	7	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:17366690T>A	ENST00000380647.3	+	13	2046	c.1962T>A	c.(1960-1962)aaT>aaA	p.N654K	CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K|CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	654						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAATTGAATAGATGTGTGG	0.269													5	22					0	0	0	0	A	17366690	T	A	17366690	3	1	423	1	0	0	0	0	1	0	0	0	3669	1403	49	5	2042	5	CNTLN	9	17366690	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08		17366690	123846741	136	83514											
TOPORS	10210	broad.mit.edu	37	chr9	32542610	32542610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttttgtctcttctccctCtaggtctgctactttccctg	2	20	5	14	0	5	0	0	0	5	0	8	0	6	0	2	1	2	1	2	1	2	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:32542610C>G	ENST00000360538.2	-	3	2029	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	638	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCTCCCTCTAGGTCTGCT	0.423													31	93					0	0	0	0	G	32542610	C	G	32542610	3	3	423	1	0	0	0	0	1	0	0	0	16465	913	32	2	1228	2	TOPORS	9	32542610	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	15175920	32542610	108670821	137	83515											
FBXO10	26267	broad.mit.edu	37	chr9	37518252	37518252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatagataccattgcccCggagctccactttgcactgg	8	11	9	13	1	1	1	1	0	0	1	2	2	2	2	4	2	4	2	4	2	2	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:37518252C>T	ENST00000432825.2	-	9	2432	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	795						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATTGCCCCGGAGCTCCAC	0.582													10	25					0	0	0	0	T	37518252	C	T	37518252	3	4	423	1	0	0	0	0	1	0	0	0	5771	652	23	1	498	1	FBXO10	9	37518252	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	4975642	37518252	103695179	138	83516											
ZFP37	7539	broad.mit.edu	37	chr9	115806327	115806327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagtttcttgagtgatcagGtaaatctaaattctgtttca	12	16	7	6	0	5	2	2	2	3	0	5	2	5	2	0	1	0	3	0	1	4	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:115806327G>C	ENST00000374227.3	-	4	598	c.571C>G	c.(571-573)Cct>Gct	p.P191A	ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A|ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAGTGATCAGGTAAATCTAAA	0.313													13	22					0	0	0	0	C	115806327	G	C	115806327	3	2	423	1	0	0	0	0	1	0	0	0	17743	1261	44	4	1325	4	ZFP37	9	115806327	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	78288075	115806327	25407104	139	83517											
NOTCH1	4851	broad.mit.edu	37	chr9	139400146	139400146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgtgggctcacaggtcCcctggttgtagcaggggttg	5	10	17	9	1	1	0	1	0	0	0	2	1	2	1	2	6	1	5	2	6	1	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:139400146C>T	ENST00000277541.6	-	25	4277	c.4202G>A	c.(4201-4203)gGg>gAg	p.G1401E		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1401	EGF-like 36.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCACAGGTCCCCTGGTTGTA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	9					0	0	0	0	T	139400146	C	T	139400146	3	4	423	1	0	0	0	0	1	0	0	0	10617	623	22	4	3505	4	NOTCH1	9	139400146	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	23593819	139400146	1813285	140	83518											
GDF10	2662	broad.mit.edu	37	chr10	48428702	48428702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaaagatttcggtgagAttatccattcattccagccg	12	12	7	10	2	2	2	2	1	0	2	5	3	4	2	3	1	1	0	3	1	3	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:48428702A>G	ENST00000224605.2	-	2	1449	c.1184T>C	c.(1183-1185)aTc>aCc	p.I395T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	395					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTTCGGTGAGATTATCCATTC	0.532													11	46					0	0	0	0	G	48428702	A	G	48428702	3	3	423	1	0	0	0	0	1	0	0	0	6362	333	12	5	260	5	GDF10	10	48428702	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08		48428702	87106045	141	83519											
PCDH15	65217	broad.mit.edu	37	chr10	55996672	55996672	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggattggtggcgtaacaAtaatggggttcagttcttcc	8	14	12	7	1	2	0	1	0	1	0	3	1	3	1	1	5	1	3	1	5	3	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:55996672A>G	ENST00000373965.2	-	9	1290	c.896T>C	c.(895-897)aTt>aCt	p.I299T	PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T|PCDH15_ENST00000320301.6_Missense_Mutation_p.I299T|PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	299	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCGTAACAATAATGGGGTT	0.408										HNSCC(58;0.16)			23	57					0	0	0	0	G	55996672	A	G	55996672	3	3	423	1	0	0	0	0	1	0	0	0	11582	101	4	5	6715	5	PCDH15	10	55996672	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	7567970	55996672	79538075	142	83520											
TMEM180	79847	broad.mit.edu	37	chr10	104233349	104233349	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctatgtcgctccccaTctcaacaacctctacttcct	7	13	2	19	1	3	0	1	0	3	0	8	0	5	0	5	0	3	1	5	0	4	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:104233349T>C	ENST00000238936.4	+	8	1185	c.948T>C	c.(946-948)caT>caC	p.H316H	TMEM180_ENST00000366277.2_Silent_p.H45H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	316						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGCTCCCCATCTCAACAACC	0.632													38	148					0	0	0	0	C	104233349	T	C	104233349	2	2	423	1	0	0	0	0	0	0	0	1	16193	1432	50	5		5	TMEM180	10	104233349	Silent	SNP	T	TCGA-HD-8635-01A-11D-2394-08	48236677	104233349	31301398	143	83521											
FAM160B1	57700	broad.mit.edu	37	chr10	116605222	116605222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgattattgtgatcagctCattaaggaagcccaaaaggt	13	13	9	6	0	2	2	2	2	0	0	2	3	2	3	1	2	2	1	1	2	5	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:116605222C>T	ENST00000369248.4	+	8	1445	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	FAM160B1_ENST00000369250.3_Silent_p.L370L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	370										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTGATCAGCTCATTAAGGAAG	0.308													6	15					0	0	0	0	T	116605222	C	T	116605222	2	4	423	1	0	0	0	0	0	0	0	1	5511	813	29	2		2	FAM160B1	10	116605222	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	12371873	116605222	18929525	144	83522											
OR52R1	119695	broad.mit.edu	37	chr11	4825504	4825504	+	Missense_Mutation	SNP	G	G	T																															caacagccacagcatacgtgGcacagaacggaaaggcaatc																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:4825504G>T	ENST00000380382.1	-	1	343	c.344C>A	c.(343-345)gCc>gAc	p.A115D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36D			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCATACGTGGCACAGAACGG	0.512													6	20					0.00307968	0.00315402	1	0	T	4825504	G	T	4825504	3	4	423	1	0	0	0	0	1	0	0	0	11202	1203	42	4	843	4	OR52R1	11	4825504	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08		4825504	130181012	145	83523	1055	2									
OR52R1	119695	broad.mit.edu	37	chr11	4825505	4825505	+	Missense_Mutation	SNP	C	C	T																															aacagccacagcatacgtggCacagaacggaaaggcaatcc																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:4825505C>T	ENST00000380382.1	-	1	342	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36T			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATACGTGGCACAGAACGGA	0.512													6	21					0	0	0	0	T	4825505	C	T	4825505	3	4	423	1	0	0	0	0	1	0	0	0	11202	710	25	4	844	4	OR52R1	11	4825505	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	1	4825505	130181011	146	83524	1055	2									
DEPDC7	91614	broad.mit.edu	37	chr11	33049326	33049326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagcctgccaactcccctCatgtaaatatctctgcaacc	12	10	4	15	0	2	0	1	0	1	0	4	0	3	0	5	0	5	2	5	0	7	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:33049326C>T	ENST00000311388.3	+	3	908	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	DEPDC7_ENST00000241051.3_Missense_Mutation_p.H187Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	187					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						caactcccctcatgtaaatat	0.363													5	12					0	0	0	0	T	33049326	C	T	33049326	3	4	423	1	0	0	0	0	1	0	0	0	4481	826	29	2	619	2	DEPDC7	11	33049326	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	28223821	33049326	101957190	147	83525											
OR5M9	390162	broad.mit.edu	37	chr11	56230395	56230395	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagaagtataagccataAgtccatagtgtgcatattag	15	10	8	8	0	0	1	0	0	0	1	1	1	1	1	3	0	2	2	3	0	7	6	rs145912919	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:56230395A>G	ENST00000279791.1	-	1	482	c.483T>C	c.(481-483)acT>acC	p.T161T		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATAAGCCATAAGTCCATAGTG	0.428													17	49					0	0	0	0	G	56230395	A	G	56230395	2	3	423	1	0	0	0	0	0	0	0	1	11248	59	3	5		5	OR5M9	11	56230395	Silent	SNP	A	TCGA-HD-8635-01A-11D-2394-08	23181069	56230395	78776121	148	83526											
EML3	256364	broad.mit.edu	37	chr11	62374514	62374514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctctgagtctccagtgaGaatgtctccatccggaagga	9	9	10	13	1	3	2	0	2	3	1	6	5	4	4	5	2	0	0	5	2	2	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:62374514G>C	ENST00000394773.2	-	12	1727	c.1420C>G	c.(1420-1422)Ctc>Gtc	p.L474V	EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000531557.1_Missense_Mutation_p.L257V|EML3_ENST00000278845.4_Missense_Mutation_p.L475V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	474						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCAGTGAGAATGTCTCCA	0.552													27	90					0	0	0	0	C	62374514	G	C	62374514	3	2	423	1	0	0	0	0	1	0	0	0	5136	942	33	2	1314	2	EML3	11	62374514	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	6144119	62374514	72632002	149	83527											
DNAJC4	3338	broad.mit.edu	37	chr11	64001429	64001429	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggatcatcacagccttctaCaacgaagcccgggcacgggc	10	5	11	15	4	3	0	2	0	1	0	3	2	3	1	2	3	4	1	2	3	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:64001429C>A	ENST00000321685.3	+	6	1056	c.591C>A	c.(589-591)taC>taA	p.Y197*	RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|DNAJC4_ENST00000355040.4_3'UTR|RP11-783K16.14_ENST00000539963.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	197					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						CAGCCTTCTACAACGAAGCCC	0.542													8	112					0.000442599	0.000458021	1	0	A	64001429	C	A	64001429	4	1	423	1	0	0	0	0	0	1	0	0	4685	489	17	4	609	4	DNAJC4	11	64001429	Nonsense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	1626915	64001429	71005087	150	83528											
ADRBK1	156	broad.mit.edu	37	chr11	67051382	67051382	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggccgacgccttcgacAttggctccttcgatgaggag	7	8	13	13	6	0	1	0	1	0	0	3	5	1	2	3	3	0	1	3	3	0	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:67051382A>T	ENST00000308595.5	+	17	1743	c.1453A>T	c.(1453-1455)Att>Ttt	p.I485F	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	485	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGCCTTCGACATTGGCTCCTT	0.622													9	10					0	0	0	0	T	67051382	A	T	67051382	3	4	423	1	0	0	0	0	1	0	0	0	343	217	8	5	1519	5	ADRBK1	11	67051382	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	3049953	67051382	67955134	151	83529											
CORO1B	57175	broad.mit.edu	37	chr11	67209167	67209167	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtatggaggggtccgTggggggggggagcacaaaac	9	5	22	5	1	0	0	0	0	0	0	1	3	1	3	1	9	2	2	1	9	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:67209167T>G	ENST00000545016.1	-	4	576	c.491A>C	c.(490-492)cAc>cCc	p.H164P	CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000453768.2_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGGGGTCCGTGGGGGGGGGG	0.657													4	13					0	0	0	0	G	67209167	T	G	67209167	3	3	423	1	0	0	0	0	1	0	0	0	3784	1711	59	5		5	CORO1B	11	67209167	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	157785	67209167	67797349	152	83530											
TPCN2	219931	broad.mit.edu	37	chr11	68822821	68822821	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccgacctctctgtgaagGtgaggcgggcgccaggccct	5	6	16	14	4	1	2	0	2	1	0	2	3	1	2	4	5	0	0	4	5	1	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:68822821G>A	ENST00000294309.3	+	4	530		c.e4+1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTGTGAAGGTGAGGCGGGC	0.672													22	24					0	0	0	0	A	68822821	G	A	68822821	5	1	423	1	0	0	0	0	0	0	1	0	16491	1275	44	4	444	4	TPCN2	11	68822821	Splice_Site	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1613654	68822821	66183695	153	83531											
ALKBH8	91801	broad.mit.edu	37	chr11	107427549	107427549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctaaatcatccactacttCttttccattgagggtaacat	11	15	4	11	0	2	1	1	1	1	0	5	1	5	1	3	1	2	1	3	1	4	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:107427549C>G	ENST00000428149.2	-	3	461	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	104	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	p.E104*(2)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TCCACTACTTCTTTTCCATTG	0.353													29	19					0	0	0	0	G	107427549	C	G	107427549	3	3	423	1	0	0	0	0	1	0	0	0	533	922	32	2	1724	2	ALKBH8	11	107427549	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	38604728	107427549	27578967	154	83532											
HTR3A	3359	broad.mit.edu	37	chr11	113860273	113860273	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccctcccccaccacctCgggaggcctcgctggcggtg	4	6	13	18	3	0	0	0	0	0	0	3	1	1	1	6	4	1	2	6	4	1	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:113860273C>A	ENST00000504030.2	+	9	1670	c.1225C>A	c.(1225-1227)Cgg>Agg	p.R409R	HTR3A_ENST00000375498.2_Silent_p.R415R|HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000535865.1_Silent_p.R153R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000355556.2_Silent_p.R447R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q.		digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCACCACCTCGGGAGGCCTC	0.637													87	61					2.96794e-49	3.48411e-49	1	0	A	113860273	C	A	113860273	2	1	423	1	0	0	0	0	0	0	0	1	7497	875	31	3		3	HTR3A	11	113860273	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	6432724	113860273	21146243	155	83533											
ST14	6768	broad.mit.edu	37	chr11	130060365	130060365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagacagctgcagctttggCctgcacgcccgcggtgtgga	6	7	15	13	3	0	1	0	0	0	1	0	2	0	2	2	3	4	5	2	3	0	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:130060365C>A	ENST00000278742.5	+	7	1069	c.651C>A	c.(649-651)ggC>ggA	p.G217G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	217	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGGCCTGCACGCCC	0.711													10	94					0.00621372	0.00634183	1	0	A	130060365	C	A	130060365	2	1	423	1	0	0	0	0	0	0	0	1	15301	726	26	4		4	ST14	11	130060365	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	16200092	130060365	4946151	156	83534											
GUCY2C	2984	broad.mit.edu	37	chr12	14794056	14794056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagtgtagaaggtttctttCcgcaggatgatctcctgtgc	9	13	11	8	1	2	2	0	1	2	1	4	3	3	3	2	2	1	3	2	2	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:14794056C>T	ENST00000261170.3	-	18	2164	c.2028G>A	c.(2026-2028)cgG>cgA	p.R676R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	676	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGTTTCTTTCCGCAGGATGA	0.522													12	22					0	0	0	0	T	14794056	C	T	14794056	2	4	423	1	0	0	0	0	0	0	0	1	6946	842	30	2		2	GUCY2C	12	14794056	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08		14794056	119057839	157	83535											
TM7SF3	51768	broad.mit.edu	37	chr12	27132839	27132839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaacattccaccgacgCttccagtgacagctgtcaga	12	7	8	14	2	1	3	1	1	0	2	3	4	3	3	4	0	2	2	4	0	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:27132839C>T	ENST00000343028.4	-	9	1292	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	356						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCCACCGACGCTTCCAGTGAC	0.502													11	36					0	0	0	0	T	27132839	C	T	27132839	3	4	423	1	0	0	0	0	1	0	0	0	16069	797	28	4	661	4	TM7SF3	12	27132839	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	12338783	27132839	106719056	158	83536											
IPO8	10526	broad.mit.edu	37	chr12	30792496	30792496	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgatttataaactgtacAgtgataggtccagggttgtg	11	14	11	5	0	0	2	0	2	0	0	1	2	1	2	1	2	2	2	1	2	5	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:30792496A>G	ENST00000256079.4	-	21	2780	c.2442T>C	c.(2440-2442)acT>acC	p.T814T	IPO8_ENST00000544829.1_Silent_p.T609T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	814					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAAACTGTACAGTGATAGGTC	0.383													18	47					0	0	0	0	G	30792496	A	G	30792496	2	3	423	1	0	0	0	0	0	0	0	1	7851	175	7	5		5	IPO8	12	30792496	Silent	SNP	A	TCGA-HD-8635-01A-11D-2394-08	3659657	30792496	103059399	159	83537											
NACA	4666	broad.mit.edu	37	chr12	57112023	57112023	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggggcccctttgggggaTggggtagctgggcctccttt	3	11	18	9	0	0	0	0	0	0	0	1	1	1	1	4	7	1	2	4	7	1	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:57112023T>C	ENST00000454682.1	-	3	3572	c.3291A>G	c.(3289-3291)ccA>ccG	p.P1097P	NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTGGGGGATGGGGTAGCTG	0.662			T	BCL6	NHL								24	61					0	0	0	0	C	57112023	T	C	57112023	2	2	423	1	0	0	0	0	0	0	0	1	10203	1451	51	5		5	NACA	12	57112023	Silent	SNP	T	TCGA-HD-8635-01A-11D-2394-08	26319527	57112023	76739872	160	83538											
XPOT	11260	broad.mit.edu	37	chr12	64813997	64813997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtagttggggcttatGtctcttggatagacttatcc	8	16	11	6	0	1	2	0	1	1	1	3	3	2	3	1	3	0	3	1	3	5	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:64813997G>T	ENST00000332707.5	+	7	1166	c.637G>T	c.(637-639)Gtc>Ttc	p.V213F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	213	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGGGGCTTATGTCTCTTGGAT	0.333													12	39					7.03913e-09	7.63e-09	1	0	T	64813997	G	T	64813997	3	4	423	1	0	0	0	0	1	0	0	0	17546	1377	48	4	659	4	XPOT	12	64813997	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	7701974	64813997	69037898	161	83539											
CPM	1368	broad.mit.edu	37	chr12	69279634	69279634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccaattctgtgttcctttgGaaaccgccccacaacaagaa	12	9	6	14	1	1	1	0	0	1	1	2	2	2	2	5	1	2	1	5	1	5	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:69279634G>C	ENST00000551568.1	-	3	256	c.196C>G	c.(196-198)Cca>Gca	p.P66A	CPM_ENST00000546373.1_Missense_Mutation_p.P66A|CPM_ENST00000338356.3_Missense_Mutation_p.P66A	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	66					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGTTCCTTTGGAAACCGCCCC	0.408													11	44					0	0	0	0	C	69279634	G	C	69279634	3	2	423	1	0	0	0	0	1	0	0	0	3838	1174	41	2	1163	2	CPM	12	69279634	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	4465637	69279634	64572261	162	83540											
MRPL42	28977	broad.mit.edu	37	chr12	93873187	93873187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagagcttgctctgacttCtgatggcaggacaatagtat	10	12	11	8	1	2	3	0	2	2	1	2	4	2	4	0	2	2	5	0	2	4	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:93873187C>A	ENST00000549982.1	+	4	319	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	53					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.S53C(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GCTCTGACTTCTGATGGCAGG	0.323													8	14					1.58986e-06	1.66264e-06	1	0	A	93873187	C	A	93873187	3	1	423	1	0	0	0	0	1	0	0	0	9876	913	32	2	192	2	MRPL42	12	93873187	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	24593553	93873187	39978708	163	83541											
SART3	9733	broad.mit.edu	37	chr12	108920071	108920071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctccccacaggcctcgaaGagtggcctgagcttcgtgtc	7	8	11	15	2	0	2	0	1	0	1	4	3	1	2	5	2	1	1	5	2	1	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:108920071G>A	ENST00000228284.3	-	16	2409	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	SART3_ENST00000431469.2_Silent_p.L689L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	725	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCCTCGAAGAGTGGCCTGA	0.567									Porokeratosis				15	72					0	0	0	0	A	108920071	G	A	108920071	2	1	423	1	0	0	0	0	0	0	0	1	13933	929	33	2		2	SART3	12	108920071	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	15046884	108920071	24931824	164	83542											
ULK1	8408	broad.mit.edu	37	chr12	132399963	132399963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggggtggcaggtcccctcgtCcaggtgggtgcagtccggag	4	7	19	11	2	0	0	0	0	0	0	4	1	3	1	4	7	1	2	4	7	0	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:132399963C>G	ENST00000321867.4	+	18	1957	c.1606C>G	c.(1606-1608)Cca>Gca	p.P536A		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	536					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTCCCCTCGTCCAGGTGGGTG	0.632													12	22					0	0	0	0	G	132399963	C	G	132399963	3	3	423	1	0	0	0	0	1	0	0	0	17071	855	30	2	1676	2	ULK1	12	132399963	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	23479892	132399963	1451932	165	83543											
DDX51	317781	broad.mit.edu	37	chr12	132627407	132627407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggctcagccagccaccttGgcaggaaaggctggacctgc	9	6	13	13	0	1	0	1	0	0	0	1	2	1	2	4	5	3	3	4	5	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:132627407G>C	ENST00000397333.3	-	3	574	c.536C>G	c.(535-537)cCa>cGa	p.P179R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	179					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CAGCCACCTTGGCAGGAAAGG	0.572													15	68					0	0	0	0	C	132627407	G	C	132627407	3	2	423	1	0	0	0	0	1	0	0	0	4401	1348	47	4	1516	4	DDX51	12	132627407	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	227444	132627407	1224488	166	83544											
UGGT2	55757	broad.mit.edu	37	chr13	96505887	96505887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctccaattctcctgaacttCttgagatccactacatataa	12	13	4	12	0	2	2	0	2	2	1	5	3	4	2	3	0	2	1	3	0	5	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:96505887C>G	ENST00000376747.3	-	36	4264	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1398	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCTGAACTTCTTGAGATCCA	0.388													6	12					0	0	0	0	G	96505887	C	G	96505887	3	3	423	1	0	0	0	0	1	0	0	0	17038	912	32	2	372	2	UGGT2	13	96505887	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08		96505887	18663991	167	83545											
UBAC2	337867	broad.mit.edu	37	chr13	100020049	100020049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctctttttagggaggaatGatcaattggaatcgtctttt	10	17	9	5	1	3	1	1	1	2	0	5	4	3	4	0	3	0	0	0	3	4	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:100020049G>C	ENST00000376440.2	+	6	1214	c.711G>C	c.(709-711)atG>atC	p.M237I	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000403766.3_Missense_Mutation_p.M272I	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	272						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGGAGGAATGATCAATTGGA	0.448													5	20					0	0	0	0	C	100020049	G	C	100020049	3	2	423	1	0	0	0	0	1	0	0	0	16931	1290	45	2	1006	2	UBAC2	13	100020049	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	3514162	100020049	15149829	168	83546											
COL4A2	1284	broad.mit.edu	37	chr13	111160475	111160475	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgtgtgaggccccGgccatcgccatcgcggtcca	4	10	13	14	4	1	1	0	1	1	0	4	1	2	1	5	3	0	1	5	3	0	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:111160475G>T	ENST00000360467.5	+	47	5094	c.4788G>T	c.(4786-4788)ccG>ccT	p.P1596P	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1596	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGAGGCCCCGGCCATCGCCA	0.607													5	49					5.9392e-07	6.23301e-07	1	0	T	111160475	G	T	111160475	2	4	423	1	0	0	0	0	0	0	0	1	3720	1103	39	3		3	COL4A2	13	111160475	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	11140426	111160475	4009403	169	83547											
OR4Q3	441669	broad.mit.edu	37	chr14	20216398	20216398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcttctctgtggataagaTattctccttgttttacacag	9	16	7	9	0	2	1	0	0	2	1	4	2	2	2	1	1	2	2	1	1	3	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:20216398T>C	ENST00000331723.1	+	1	812	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGATAAGATATTCTCCTTG	0.433													14	49					0	0	0	0	C	20216398	T	C	20216398	3	2	423	1	0	0	0	0	1	0	0	0	11152	1406	49	5	814	5	OR4Q3	14	20216398	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08		20216398	87133142	170	83548											
RIPK3	11035	broad.mit.edu	37	chr14	24806948	24806948	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccatctggaagacttCatcagtttttggtaggcatt	9	14	8	10	0	3	1	2	0	1	1	4	2	4	2	2	3	0	3	2	3	2	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:24806948C>A	ENST00000216274.5	-	7	1071	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	285	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGGAAGACTTCATCAGTTTTT	0.527													4	18					0.184627	0.185251	1	0	A	24806948	C	A	24806948	4	1	423	1	0	0	0	0	0	1	0	0	13467	835	29	2	719	2	RIPK3	14	24806948	Nonsense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	4590550	24806948	82542592	171	83549											
FSCB	84075	broad.mit.edu	37	chr14	44976017	44976017	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgctttctctttgtccaAgtttgctgaagctcagaaga	9	14	8	10	0	2	3	1	1	1	2	4	3	3	3	2	0	3	4	2	0	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:44976017A>T	ENST00000340446.4	-	1	465	c.174T>A	c.(172-174)acT>acA	p.T58T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	58						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTTTGTCCAAGTTTGCTGAA	0.423													16	73					0	0	0	0	T	44976017	A	T	44976017	2	4	423	1	0	0	0	0	0	0	0	1	6114	59	3	5		5	FSCB	14	44976017	Silent	SNP	A	TCGA-HD-8635-01A-11D-2394-08	20169069	44976017	62373523	172	83550											
SYNE2	23224	broad.mit.edu	37	chr14	64675494	64675494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatctacagcgagatattGaacaacacagcgcaggggtg	14	6	13	8	2	1	2	0	1	1	1	1	4	1	3	0	3	5	1	0	3	4	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:64675494G>A	ENST00000357395.3	+	102	18519	c.7375G>A	c.(7375-7377)Gaa>Aaa	p.E2459K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6074K|SYNE2_ENST00000555022.1_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6074					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCGAGATATTGAACAACACAG	0.517													15	40					0	0	0	0	A	64675494	G	A	64675494	3	1	423	1	0	0	0	0	1	0	0	0	15537	1291	45	2	18618	2	SYNE2	14	64675494	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	19699477	64675494	42674046	173	83551											
RDH12	145226	broad.mit.edu	37	chr14	68191258	68191258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggtagtggtgatcactgGcgccaacacgggcattggca	10	7	14	10	2	1	1	1	1	0	0	1	1	1	1	1	5	1	3	1	5	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:68191258G>A	ENST00000551171.1	+	4	461	c.137G>A	c.(136-138)gGc>gAc	p.G46D	RDH12_ENST00000267502.3_Missense_Mutation_p.G46D|RDH12_ENST00000539142.1_Missense_Mutation_p.G46D	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	46					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GTGATCACTGGCGCCAACACG	0.542													18	59					0	0	0	0	A	68191258	G	A	68191258	3	1	423	1	0	0	0	0	1	0	0	0	13273	1203	42	4	143	4	RDH12	14	68191258	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	3515764	68191258	39158282	174	83552											
PCNX	22990	broad.mit.edu	37	chr14	71444820	71444820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttcgaggtgtttctggtaCcaagccacacagtgctatat	9	13	9	10	1	1	0	0	0	1	0	2	1	1	0	2	2	3	3	2	2	4	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:71444820C>G	ENST00000304743.2	+	6	2212	c.1766C>G	c.(1765-1767)aCc>aGc	p.T589S	PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	589						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTCTGGTACCAAGCCACAC	0.478													15	54					0	0	0	0	G	71444820	C	G	71444820	3	3	423	1	0	0	0	0	1	0	0	0	11662	507	18	4	1788	4	PCNX	14	71444820	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	3253562	71444820	35904720	175	83553											
C14orf79	122616	broad.mit.edu	37	chr14	105452973	105452973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccacctgcactgcccgatgtCctgaccctggggaacacagc	8	6	10	17	1	0	1	0	1	0	0	1	3	1	2	5	2	4	1	5	2	1	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:105452973C>G	ENST00000547315.1	+	1	844	c.205C>G	c.(205-207)Cct>Gct	p.P69A		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	69										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TGCCCGATGTCCTGACCCTGG	0.582													19	49					0	0	0	0	G	105452973	C	G	105452973	3	3	423	1	0	0	0	0	1	0	0	0	1792	855	30	2	207	2	C14orf79	14	105452973	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	34008153	105452973	1896567	176	83554											
TUBGCP5	114791	broad.mit.edu	37	chr15	22855171	22855171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccaggggccctccagcagGcagcacaccatggtgtcctt	8	6	12	15	0	0	0	0	0	0	0	2	1	2	0	5	4	2	3	5	4	0	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:22855171G>T	ENST00000283645.4	+	13	1762	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	544					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CCTCCAGCAGGCAGCACACCA	0.502													19	48					1.33834e-09	1.46674e-09	1	0	T	22855171	G	T	22855171	3	4	423	1	0	0	0	0	1	0	0	0	16865	1194	42	4	1682	4	TUBGCP5	15	22855171	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08		22855171	79676221	177	83555											
OCA2	4948	broad.mit.edu	37	chr15	28234814	28234814	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggtcaggctgggtctcTgcaatcaaagcacaaatttg	11	10	11	9	0	3	0	2	0	1	0	4	0	3	0	0	3	2	3	0	3	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:28234814T>A	ENST00000354638.3	-	11	1272		c.e11-2		OCA2_ENST00000382996.2_Splice_Site|OCA2_ENST00000353809.5_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTCTCTGCAATCAAAG	0.572									Oculocutaneous Albinism				7	30					0	0	0	0	A	28234814	T	A	28234814	5	1	423	1	0	0	0	0	0	0	1	0	10886	1594	55	5	1457	5	OCA2	15	28234814	Splice_Site	SNP	T	TCGA-HD-8635-01A-11D-2394-08	5379643	28234814	74296578	178	83556											
SLC12A6	9990	broad.mit.edu	37	chr15	34610823	34610823	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactaggctcttgagagatCgaagccgctgccccctcctc	9	8	9	15	2	1	2	0	1	1	1	4	4	2	2	4	1	3	2	4	1	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:34610823C>A	ENST00000290209.5	-	1	157	c.57G>T	c.(55-57)tcG>tcT	p.S19S	SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000354181.3_Intron|SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000558667.1_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000458406.2_Intron	NM_005135.2	NP_005126.1	Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	72					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTGAGAGATCGAAGCCGCTG	0.428													11	39					6.42651e-13	7.31293e-13	1	0	A	34610823	C	A	34610823	2	1	423	1	0	0	0	0	0	0	0	1	14475	871	31	3		3	SLC12A6	15	34610823	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	6376009	34610823	67920569	179	83557											
RASGRP1	10125	broad.mit.edu	37	chr15	38792304	38792304	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaatattgagtcttacCtttacatcgatatccttgtt	11	17	4	9	1	2	1	1	1	1	0	4	2	3	1	2	0	3	1	2	0	6	8			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:38792304C>G	ENST00000310803.5	-	14	1897	c.1720_splice	c.e14+1	p.D574_splice	RASGRP1_ENST00000539159.1_Splice_Site_p.D526_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.D539_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.D539_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.D625_splice|RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	574					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGTCTTACCTTTACATCGA	0.428													17	63					0	0	0	0	G	38792304	C	G	38792304	5	3	423	1	0	0	0	0	0	0	1	0	13156	695	24	4	689	4	RASGRP1	15	38792304	Splice_Site	SNP	C	TCGA-HD-8635-01A-11D-2394-08	4181481	38792304	63739088	180	83558											
THBS1	7057	broad.mit.edu	37	chr15	39885673	39885673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagggacgatgactatgctgGatttgtctttggctaccagt	9	13	12	7	1	1	1	0	1	1	0	1	4	1	3	1	3	2	2	1	3	3	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:39885673G>C	ENST00000260356.5	+	19	3236	c.3071G>C	c.(3070-3072)gGa>gCa	p.G1024A		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTATGCTGGATTTGTCTTT	0.517													19	171					0	0	0	0	C	39885673	G	C	39885673	3	2	423	1	0	0	0	0	1	0	0	0	15947	1174	41	2	3141	2	THBS1	15	39885673	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1093369	39885673	62645719	181	83559											
ATP8B4	79895	broad.mit.edu	37	chr15	50271897	50271897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatccggagaacacagagctCttctctccttcattccaaaa	13	10	5	13	1	3	2	1	0	2	2	7	3	6	2	3	1	2	1	3	1	4	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:50271897C>G	ENST00000284509.6	-	12	1092	c.951G>C	c.(949-951)aaG>aaC	p.K317N	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	317					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACAGAGCTCTTCTCTCCTT	0.368													12	50					0	0	0	0	G	50271897	C	G	50271897	3	3	423	1	0	0	0	0	1	0	0	0	1201	912	32	2	2695	2	ATP8B4	15	50271897	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	10386224	50271897	52259495	182	83560											
UNC13C	440279	broad.mit.edu	37	chr15	54307998	54307998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatcacaaagccaaaGagaattcgtccttctttcaa	14	10	8	9	1	3	2	2	0	1	2	5	4	4	2	2	1	1	0	2	1	4	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:54307998G>T	ENST00000545554.1	+	1	2898	c.2898G>T	c.(2896-2898)aaG>aaT	p.K966N	UNC13C_ENST00000260323.11_Missense_Mutation_p.K966N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K966N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	966					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAGCCAAAGAGAATTCGTC	0.398													5	5					3.59834e-05	3.76133e-05	1	0	T	54307998	G	T	54307998	3	4	423	1	0	0	0	0	1	0	0	0	17082	933	33	2	2900	2	UNC13C	15	54307998	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	4036101	54307998	48223394	183	83561											
PYGO1	26108	broad.mit.edu	37	chr15	55838669	55838669	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattaacattttttaattcaAtattactctgattcactgtg	12	19	4	6	0	3	1	2	1	1	0	3	2	3	1	0	0	2	0	0	0	5	8			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:55838669A>G	ENST00000302000.6	-	3	906	c.812T>C	c.(811-813)aTt>aCt	p.I271T	PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	271	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTTAATTCAATATTACTCTG	0.383													24	80					0	0	0	0	G	55838669	A	G	55838669	3	3	423	1	0	0	0	0	1	0	0	0	12945	101	4	5	451	5	PYGO1	15	55838669	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	1530671	55838669	46692723	184	83562											
PRTG	283659	broad.mit.edu	37	chr15	55919293	55919293	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacagcaatgccagtcattGatttttggtccagatggtaa	11	13	9	8	0	1	2	1	1	0	1	2	2	2	2	2	2	3	2	2	2	3	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:55919293G>C	ENST00000389286.4	-	17	2887	c.2840C>G	c.(2839-2841)tCa>tGa	p.S947*		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	947					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCAGTCATTGATTTTTGGTC	0.358													10	33					0	0	0	0	C	55919293	G	C	55919293	4	2	423	1	0	0	0	0	0	1	0	0	12717	1294	45	2	628	2	PRTG	15	55919293	Nonsense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	80624	55919293	46612099	185	83563											
GCOM1	145781	broad.mit.edu	37	chr15	57925925	57925925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagctggacaggctgattGagcgcatggaaaaggtagga	12	6	18	5	1	0	2	0	2	0	0	0	6	0	6	0	6	2	4	0	6	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:57925925G>C	ENST00000574161.1	+	8	1038	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E307Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		307					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGGCTGATTGAGCGCATGGA	0.502													9	60					0	0	0	0	C	57925925	G	C	57925925	3	2	423	1	0	0	0	0	1	0	0	0	6354	1291	45	2	949	2	GCOM1	15	57925925	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	2006632	57925925	44605467	186	83564											
VPS13C	54832	broad.mit.edu	37	chr15	62226518	62226518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagagctttgagtctgtcCaatcttcttgttctaatggt	8	17	9	7	0	4	2	0	1	4	1	5	3	5	2	1	1	1	2	1	1	3	6			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:62226518C>A	ENST00000261517.5	-	49	5841	c.5768G>T	c.(5767-5769)tGg>tTg	p.W1923L	VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1923					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGTCTGTCCAATCTTCTTG	0.274													13	49					2.27111e-07	2.40043e-07	1	0	A	62226518	C	A	62226518	3	1	423	1	0	0	0	0	1	0	0	0	17287	595	21	4	5669	4	VPS13C	15	62226518	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	4300593	62226518	40304874	187	83565											
KLHL25	64410	broad.mit.edu	37	chr15	86312712	86312712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgttctcctcgttgatggcGatgcgtgaggagtaggcaaa	8	10	15	8	4	1	2	0	2	1	0	3	4	1	3	1	3	1	4	1	3	2	3	rs145878071	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:86312712G>A	ENST00000337975.5	-	2	604	c.330C>T	c.(328-330)atC>atT	p.I110I	KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	110	BTB.					cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGTTGATGGCGATGCGTGAGG	0.607													23	51					0	0	0	0	A	86312712	G	A	86312712	2	1	423	1	0	0	0	0	0	0	0	1	8432	1048	37	1		1	KLHL25	15	86312712	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	24086194	86312712	16218680	188	83566											
CACNA1H	8912	broad.mit.edu	37	chr16	1250445	1250445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggccgagggggtgggCgctgcacgcaacgcctgcat	6	4	17	14	5	0	0	0	0	0	0	0	1	0	0	3	4	3	5	3	4	1	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:1250445C>T	ENST00000348261.5	+	7	1241	c.993C>T	c.(991-993)ggC>ggT	p.G331G	CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	331					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGGGGGTGGGCGCTGCACGCA	0.662													7	31					0	0	0	0	T	1250445	C	T	1250445	2	4	423	1	0	0	0	0	0	0	0	1	2570	755	27	1		1	CACNA1H	16	1250445	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08		1250445	89104308	189	83567											
C16orf72	29035	broad.mit.edu	37	chr16	9186809	9186809	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagccaggactttctctCtgggtccccttccaaaacgc	8	9	8	16	1	2	0	0	0	2	0	5	1	4	1	4	2	3	1	4	2	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:9186809C>G	ENST00000327827.7	+	2	655	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	86										endometrium(4)|large_intestine(2)|lung(2)	8						GACTTTCTCTCTGGGTCCCCT	0.463													4	12					0	0	0	0	G	9186809	C	G	9186809	2	3	423	1	0	0	0	0	0	0	0	1	1844	900	32	2		2	C16orf72	16	9186809	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	7936364	9186809	81167944	190	83568											
COQ7	10229	broad.mit.edu	37	chr16	19087047	19087047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttaacaatcccaggggcGgggaccgccttgctcgggaa	8	7	15	11	3	0	0	0	0	0	0	2	2	1	2	3	6	2	2	3	6	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:19087047G>A	ENST00000321998.5	+	4	438	c.372G>A	c.(370-372)gcG>gcA	p.A124A	COQ7_ENST00000569127.1_Silent_p.A101A|COQ7_ENST00000568985.1_Silent_p.A124A|COQ7_ENST00000544894.2_Silent_p.A86A	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	124	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TCCCAGGGGCGGGGACCGCCT	0.557													16	51					0	0	0	0	A	19087047	G	A	19087047	2	1	423	1	0	0	0	0	0	0	0	1	3780	1103	39	1		1	COQ7	16	19087047	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	9900238	19087047	71267706	191	83569											
C16orf62	57020	broad.mit.edu	37	chr16	19628032	19628032	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggatacggtccagaacCagctggtggtccaaggagtg	10	7	16	8	1	0	1	0	0	0	1	2	3	2	3	3	6	3	1	3	6	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:19628032C>T	ENST00000438132.3	+	14	1441	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q376*|C16orf62_ENST00000417362.2_Intron	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	376						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGTCCAGAACCAGCTGGTGGT	0.512													10	35					0	0	0	0	T	19628032	C	T	19628032	4	4	423	1	0	0	0	0	0	1	0	0	1838	595	21	4	1180	4	C16orf62	16	19628032	Nonsense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	540985	19628032	70726721	192	83570											
SBK1	388228	broad.mit.edu	37	chr16	28328856	28328856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacactggccgccagcgaCgtcaccaagcactacgaact	11	4	9	17	5	1	0	1	0	0	0	1	2	1	0	3	1	4	2	3	1	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:28328856C>T	ENST00000341901.4	+	2	933	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	48						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGCCAGCGACGTCACCAAGC	0.637											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	49					0	0	0	0	T	28328856	C	T	28328856	2	4	423	1	0	0	0	0	0	0	0	1	13946	535	19	1		1	SBK1	16	28328856	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	8700824	28328856	62025897	193	83571											
TBX6	6911	broad.mit.edu	37	chr16	30097569	30097580	+	In_Frame_Del	DEL	CATCCAGATAGC	CATCCAGATAGC	-																															gtacatgggtttggagcccaCatccagatagcccccaggcg																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:30097569_30097580delCATCCAGATAGC	ENST00000395224.2	-	9	1336_1347	c.1277_1288delGCTATCTGGATG	c.(1276-1290)gtg>g	p.GYLDV426del	TBX6_ENST00000279386.2_In_Frame_Del_p.GYLDV426del	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	426					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TTGGAGCCCACATCCAGATAGCCCCCAGGCGC	0.665													7	89	---	---	---	---					-	30097580	CATCCAGATAGC	-	30097569	7	5	423	1	0	1	0	1	0	0	0	0	15756	478	17	0	26	0	TBX6	16	30097569	In_Frame_Del	DEL	CATCCAGATAGC	TCGA-HD-8635-01A-11D-2394-08	1768713	30097569	60257184	194	83572											
ITGAL	3683	broad.mit.edu	37	chr16	30528404	30528404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaccagtggagcgtgcaGatggtgagtgctgcctgtag	9	8	15	9	1	0	2	0	1	0	1	0	3	0	3	2	2	4	3	2	2	1	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:30528404G>T	ENST00000356798.6	+	26	3153	c.2973G>T	c.(2971-2973)caG>caT	p.Q991H	ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H|ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	991					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGAGCGTGCAGATGGTGAGTG	0.632													32	99					3.69857e-22	4.30774e-22	1	0	T	30528404	G	T	30528404	3	4	423	1	0	0	0	0	1	0	0	0	7939	933	33	2	3075	2	ITGAL	16	30528404	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	430835	30528404	59826349	195	83573											
ITGAD	3681	broad.mit.edu	37	chr16	31422660	31422660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtgacgctgttctccGtggtgagcagggccacccct	5	9	14	13	2	1	2	0	2	1	0	2	2	1	2	4	2	1	4	4	2	0	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:31422660G>A	ENST00000389202.2	+	14	1578	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	510					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGTTCTCCGTGGTGAGCAG	0.637													45	144					0	0	0	0	A	31422660	G	A	31422660	3	1	423	1	0	0	0	0	1	0	0	0	7937	1145	40	1	1583	1	ITGAD	16	31422660	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	894256	31422660	58932093	196	83574											
RSPRY1	89970	broad.mit.edu	37	chr16	57241994	57241994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaacctccctattcaatGataacattacacgaaatggc	15	9	6	11	1	1	1	1	1	0	0	2	3	2	2	2	2	3	0	2	2	6	4			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:57241994G>T	ENST00000537866.1	+	3	1248	c.375G>T	c.(373-375)atG>atT	p.M125I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	125						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTATTCAATGATAACATTAC	0.294													11	66					4.36969e-10	4.84253e-10	1	0	T	57241994	G	T	57241994	3	4	423	1	0	0	0	0	1	0	0	0	13798	1290	45	2	381	2	RSPRY1	16	57241994	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	25819334	57241994	33112759	197	83575											
CES2	8824	broad.mit.edu	37	chr16	66973251	66973251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcccatagccatgaaggctCtaacctgccggtgggtgtca	8	8	13	12	1	2	1	1	1	1	0	2	1	2	1	4	4	3	1	4	4	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:66973251C>G	ENST00000317091.4	+	3	1589	c.605C>G	c.(604-606)tCt>tGt	p.S202C	CES2_ENST00000417689.1_Missense_Mutation_p.S202C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	138					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CATGAAGGCTCTAACCTGCCG	0.537													22	67					0	0	0	0	G	66973251	C	G	66973251	3	3	423	1	0	0	0	0	1	0	0	0	3299	913	32	2	615	2	CES2	16	66973251	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	9731257	66973251	23381502	198	83576											
LRRC36	55282	broad.mit.edu	37	chr16	67410682	67410682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccggctccttctcagccGaggtgttgctcacatcctga	5	11	10	15	2	2	1	2	1	1	0	6	2	5	1	4	2	2	3	4	2	0	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:67410682G>A	ENST00000329956.6	+	11	1732	c.1713G>A	c.(1711-1713)ccG>ccA	p.P571P	LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000563189.1_Silent_p.P450P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	571										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTCTCAGCCGAGGTGTTGCT	0.527													22	81					0	0	0	0	A	67410682	G	A	67410682	2	1	423	1	0	0	0	0	0	0	0	1	9054	1045	37	1		1	LRRC36	16	67410682	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	437431	67410682	22944071	199	83577											
EDC4	23644	broad.mit.edu	37	chr16	67914646	67914646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttttggctcctctgcaccaGagggccttgagccagacagt	7	10	12	12	0	1	3	0	1	1	2	2	3	2	3	4	2	2	3	4	2	0	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:67914646G>C	ENST00000358933.5	+	18	2523	c.2284G>C	c.(2284-2286)Gag>Cag	p.E762Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	762					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCTGCACCAGAGGGCCTTGA	0.657													45	173					0	0	0	0	C	67914646	G	C	67914646	3	2	423	1	0	0	0	0	1	0	0	0	4944	943	33	2	2354	2	EDC4	16	67914646	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	503964	67914646	22440107	200	83578											
ESRP2	80004	broad.mit.edu	37	chr16	68269783	68269783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctcaaccacttgccaaaCtaggaggattaagtcggtct	11	9	10	11	2	2	0	1	0	1	0	3	2	2	2	2	4	3	1	2	4	4	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:68269783C>G	ENST00000473183.2	-	1	704	c.166G>C	c.(166-168)Gtt>Ctt	p.V56L	ESRP2_ENST00000565858.1_Missense_Mutation_p.V56L			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	56					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						ACTTGCCAAACTAGGAGGATT	0.682													3	16					0	0	0	0	G	68269783	C	G	68269783	3	3	423	1	0	0	0	0	1	0	0	0	5297	565	20	4	2047	4	ESRP2	16	68269783	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	355137	68269783	22084970	201	83579											
TRPV3	162514	broad.mit.edu	37	chr17	3448490	3448490	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttggaatccatgggcttGgagaagacaggaggagaggt	12	8	17	4	0	0	3	0	0	0	3	1	7	1	5	1	6	0	2	1	6	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:3448490G>C	ENST00000301365.4	-	3	326	c.195C>G	c.(193-195)tcC>tcG	p.S65S	TRPV3_ENST00000576742.1_Silent_p.S65S|TRPV3_ENST00000572519.1_Silent_p.S65S			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	65						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCATGGGCTTGGAGAAGACAG	0.592													6	37					0	0	0	0	C	3448490	G	C	3448490	2	2	423	1	0	0	0	0	0	0	0	1	16692	1335	47	4		4	TRPV3	17	3448490	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08		3448490	77746720	202	83580											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	40					0	0	0	0	C	7578394	T	C	7578394	3	2	423	1	0	0	0	0	1	0	0	0	16476	1464	51	5	762	5	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	4129904	7578394	73616816	203	83581											
ASB16	92591	broad.mit.edu	37	chr17	42248181	42248181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagagagaccttccccttCacctcctccatgctgcgctc	7	9	7	18	1	1	2	1	0	0	2	5	3	4	2	6	0	2	3	6	0	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:42248181C>T	ENST00000293414.1	+	1	108	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	8					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTCCCCTTCACCTCCTCCA	0.687													29	41					0	0	0	0	T	42248181	C	T	42248181	2	4	423	1	0	0	0	0	0	0	0	1	1024	825	29	2		2	ASB16	17	42248181	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	34669787	42248181	38947029	204	83582											
ABCC3	8714	broad.mit.edu	37	chr17	48753913	48753913	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgctcttcactgtggtCatcctgcccctggctgtgct	3	12	10	16	2	3	0	2	0	1	0	4	0	4	0	4	2	2	3	4	2	0	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:48753913C>A	ENST00000285238.8	+	23	3422	c.3342C>A	c.(3340-3342)gtC>gtA	p.V1114V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1114	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCACTGTGGTCATCCTGCCCC	0.592													41	82					4.32679e-17	4.98084e-17	1	0	A	48753913	C	A	48753913	2	1	423	1	0	0	0	0	0	0	0	1	54	813	29	2		2	ABCC3	17	48753913	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	6505732	48753913	32441297	205	83583											
MIF4GD	57409	broad.mit.edu	37	chr17	73265430	73265430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattagttgaagacaaacctCtgtactgcgtgttacagcgg	11	12	10	8	2	1	2	0	1	1	1	1	2	1	2	1	1	5	3	1	1	6	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:73265430C>G	ENST00000577542.1	-	3	465	c.203G>C	c.(202-204)aGa>aCa	p.R68T	MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	27	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGACAAACCTCTGTACTGCGT	0.498													11	65					0	0	0	0	G	73265430	C	G	73265430	3	3	423	1	0	0	0	0	1	0	0	0	9653	913	32	2	608	2	MIF4GD	17	73265430	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	24511517	73265430	7929780	206	83584											
DNAH17	8632	broad.mit.edu	37	chr17	76422537	76422537	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcagagaaaacggcacttaCcctgatgcggagcagcaggt	12	6	12	11	2	1	2	1	1	0	1	1	4	1	3	1	3	5	3	1	3	3	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:76422537C>A	ENST00000600087.1	+	1	129	c.129C>A	c.(127-129)taC>taA	p.Y43*	DNAH17_ENST00000389840.5_Splice_Site|DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000586052.1_Splice_Site																							ACGGCACTTACCCTGATGCGG	0.632													15	7					1.05317e-09	1.15849e-09	1	0	A	76422537	C	A	76422537	4	1	423	1	0	0	0	0	0	1	0	0	4638	521	18	4	484	4	DNAH17	17	76422537	Nonsense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	3157107	76422537	4772673	207	83585											
CYTH1	9267	broad.mit.edu	37	chr17	76694913	76694913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgcttacccggaggagctCctccggcaggtctcccccat	5	9	10	17	2	1	0	0	0	1	0	4	2	3	2	5	4	3	3	5	4	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:76694913C>T	ENST00000589297.1	-	8	1203	c.511G>A	c.(511-513)Gag>Aag	p.E171K	CYTH1_ENST00000446868.3_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K|CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K			Q15438	CYH1_HUMAN	cytohesin 1	230	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CGGAGGAGCTCCTCCGGCAGG	0.488													58	128					0	0	0	0	T	76694913	C	T	76694913	3	4	423	1	0	0	0	0	1	0	0	0	4235	864	30	2	532	2	CYTH1	17	76694913	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	272376	76694913	4500297	208	83586											
BAHCC1	57597	broad.mit.edu	37	chr17	79409906	79409906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggcctggtcaccaggacCcgctgggcgggaaggccccc	5	3	15	18	3	1	0	1	0	0	0	1	2	1	2	6	6	0	1	6	6	1	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:79409906C>T	ENST00000307745.7	+	9	1531	c.1531C>T	c.(1531-1533)Ccg>Tcg	p.P511S																								TCACCAGGACCCGCTGGGCGG	0.657													6	32					0	0	0	0	T	79409906	C	T	79409906	3	4	423	1	0	0	0	0	1	0	0	0	1300	623	22	4	1380	4	BAHCC1	17	79409906	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	2714993	79409906	1785304	209	83587											
CEP192	55125	broad.mit.edu	37	chr18	13055849	13055849	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcattggaggaacgggctaTggaaaaattgagagaaaaag	17	6	14	4	2	0	2	0	1	0	1	0	6	0	5	0	4	1	2	0	4	6	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:13055849T>A	ENST00000506447.1	+	19	3340	c.3260T>A	c.(3259-3261)aTg>aAg	p.M1087K	CEP192_ENST00000325971.8_Missense_Mutation_p.M491K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	682										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAACGGGCTATGGAAAAATTG	0.363													13	29					0	0	0	0	A	13055849	T	A	13055849	3	1	423	1	0	0	0	0	1	0	0	0	3280	1464	51	5	3330	5	CEP192	18	13055849	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08		13055849	65021399	210	83588											
ZNF396	252884	broad.mit.edu	37	chr18	32949319	32949319	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatcagaattgcgcttcGgctgaatgcctttgcacact	9	12	9	11	2	1	3	1	2	0	1	2	3	1	3	1	1	3	3	1	1	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:32949319G>A	ENST00000306346.1	-	4	999	c.868C>T	c.(868-870)Cga>Tga	p.R290*	ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R290*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	290					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATTGCGCTTCGGCTGAATGCC	0.448													10	32					0	0	0	0	A	32949319	G	A	32949319	4	1	423	1	0	0	0	0	0	1	0	0	17977	1124	39	1	141	1	ZNF396	18	32949319	Nonsense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	19893470	32949319	45127929	211	83589											
SMAD4	4089	broad.mit.edu	37	chr18	48603047	48603047	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcgacagatgcagcagCaggcggctactgcacaagct	11	6	12	12	2	1	1	1	0	0	1	2	2	1	1	0	2	6	6	0	2	2	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:48603047C>T	ENST00000342988.3	+	11	1886	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	450	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGCAGCAGCAGGCGGCTAC	0.468													13	25					0	0	0	0	T	48603047	C	T	48603047	4	4	423	1	0	0	0	0	0	1	0	0	14848	711	25	4	1386	4	SMAD4	18	48603047	Nonsense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	15653728	48603047	29474201	212	83590											
ABCA7	10347	broad.mit.edu	37	chr19	1053787	1053787	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgcttgtctccccagAtcttcctgaaggtggtggag	5	11	12	13	0	2	2	0	1	2	1	4	3	3	3	5	3	1	1	5	3	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:1053787A>T	ENST00000263094.6	+	25	3655	c.3423_splice	c.e25-1	p.I1142_splice	ABCA7_ENST00000435683.2_Splice_Site_p.I1004_splice|ABCA7_ENST00000433129.1_Splice_Site_p.I1142_splice	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1142					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCCCAGATCTTCCTGAA	0.642													25	57					0	0	0	0	T	1053787	A	T	1053787	5	4	423	1	0	0	0	0	0	0	1	0	37	347	12	5	3518	5	ABCA7	19	1053787	Splice_Site	SNP	A	TCGA-HD-8635-01A-11D-2394-08		1053787	58075196	213	83591											
MUC16	94025	broad.mit.edu	37	chr19	8959696	8959696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttccttcttccgccggCgggtggtcacctatgagggt	3	12	12	14	3	2	1	1	1	1	0	5	1	5	1	5	4	0	0	5	4	1	4	rs61748893		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:8959696C>T	ENST00000397910.4	-	84	43639	c.43436G>A	c.(43435-43437)cGc>cAc	p.R14479H	MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22124	SEA 16.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCGCCGGCGGGTGGTCAC	0.577													6	10					0	0	0	0	T	8959696	C	T	8959696	3	4	423	1	0	0	0	0	1	0	0	0	10043	768	27	1	91	1	MUC16	19	8959696	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	7905909	8959696	50169287	214	83592											
DNM2	1785	broad.mit.edu	37	chr19	10930720	10930724	+	Frame_Shift_Del	DEL	TCATG	TCATG	-																															ccgtgatgtggagaagggctTcatgtccaacaagcacgtct																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:10930720_10930724delTCATG	ENST00000314646.5	+	16	1900_1904	c.1736_1740delTCATG	c.(1735-1740)tfs	p.FM579fs	DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs			P50570	DYN2_HUMAN	dynamin 2	579	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAGAAGGGCTTCATGTCCAACAAGC	0.571			"F, N, Splice, Mis, O"		ETP ALL								19	110	---	---	---	---					-	10930724	TCATG	-	10930720	7	5	423	1	0	1	0	1	0	0	0	0	4708	1783	62	0	1941	0	DNM2	19	10930720	Frame_Shift_Del	DEL	TCATG	TCGA-HD-8635-01A-11D-2394-08	1971024	10930720	48198263	215	83593											
ZNF878	729747	broad.mit.edu	37	chr19	12154831	12154831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcgaatagaattagaaGaaatgaaggcttttccacat	17	10	9	5	1	0	4	0	1	0	3	1	6	1	4	1	1	1	1	1	1	8	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:12154831G>T	ENST00000602107.1	-	5	1525	c.1526C>A	c.(1525-1527)tCt>tAt	p.S509Y	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S462Y|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAATTAGAAGAAATGAAGGC	0.388													5	25					0.014758	0.0150107	1	0	T	12154831	G	T	12154831	3	4	423	1	0	0	0	0	1	0	0	0	18289	942	33	2	214	2	ZNF878	19	12154831	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	1224111	12154831	46974152	216	83594											
JAK3	3718	broad.mit.edu	37	chr19	17942116	17942116	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttagctaggccgaagtCagcgatcttgacgtgtgcct	8	10	12	11	3	2	1	1	1	1	0	2	3	2	1	2	1	4	2	2	1	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:17942116C>G	ENST00000458235.1	-	21	2998	c.2899G>C	c.(2899-2901)Gac>Cac	p.D967H	JAK3_ENST00000527670.1_Missense_Mutation_p.D967H|JAK3_ENST00000534444.1_Missense_Mutation_p.D967H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	967	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGCCGAAGTCAGCGATCTTG	0.657		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								26	130					0	0	0	0	G	17942116	C	G	17942116	3	3	423	1	0	0	0	0	1	0	0	0	7992	826	29	2	491	2	JAK3	19	17942116	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	5787285	17942116	41186867	217	83595											
EML2	24139	broad.mit.edu	37	chr19	46136150	46136150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccacacagcacacggctCtgtcaaacacccccaagccc	12	3	6	20	1	2	0	1	0	1	0	2	0	2	0	4	1	4	2	4	1	2	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:46136150C>G	ENST00000536630.1	-	9	1058	c.920G>C	c.(919-921)aGa>aCa	p.R307T	EML2_ENST00000245925.3_Missense_Mutation_p.R160T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T|EML2_ENST00000587152.1_Missense_Mutation_p.R361T	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	160					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCACACGGCTCTGTCAAACAC	0.617													6	22					0	0	0	0	G	46136150	C	G	46136150	3	3	423	1	0	0	0	0	1	0	0	0	5135	913	32	2	1526	2	EML2	19	46136150	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	28194034	46136150	12992833	218	83596											
KCNJ14	3770	broad.mit.edu	37	chr19	48967826	48967826	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctaaggagctggatgAacgggcagagcaggcttccc	10	6	15	10	1	0	2	0	1	0	1	1	4	1	4	1	4	4	5	1	4	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:48967826A>T	ENST00000391884.1	+	2	1579	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	368						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GAGCTGGATGAACGGGCAGAG	0.557													12	52					0	0	0	0	T	48967826	A	T	48967826	3	4	423	1	0	0	0	0	1	0	0	0	8101	246	9	5	1109	5	KCNJ14	19	48967826	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	2831676	48967826	10161157	219	83597											
GYS1	2997	broad.mit.edu	37	chr19	49481247	49481247	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatcttgttcatgtcGggaaggctcccactgcaagg	8	10	11	12	1	2	0	1	0	1	0	5	1	4	1	2	3	2	4	2	3	2	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:49481247G>T	ENST00000323798.3	-	10	1438	c.1242C>A	c.(1240-1242)ccC>ccA	p.P414P	GYS1_ENST00000263276.6_Silent_p.P350P|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000541188.1_Silent_p.P334P|GYS1_ENST00000540532.1_3'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTTCATGTCGGGAAGGCTCC	0.542													21	51					1.00905e-13	1.15264e-13	1	0	T	49481247	G	T	49481247	2	4	423	1	0	0	0	0	0	0	0	1	6962	1103	39	3		3	GYS1	19	49481247	Silent	SNP	G	TCGA-HD-8635-01A-11D-2394-08	513421	49481247	9647736	220	83598											
FAM71E1	112703	broad.mit.edu	37	chr19	50978661	50978661	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctccagggctggactggAggctgccacccccatggtga	7	6	15	13	0	0	1	0	1	0	0	1	4	1	3	4	5	2	3	4	5	0	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:50978661A>G	ENST00000600100.1	-	3	824	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	154										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCTGGACTGGAGGCTGCCACC	0.642													3	16					0	0	0	0	G	50978661	A	G	50978661	3	3	423	1	0	0	0	0	1	0	0	0	5657	304	11	5	291	5	FAM71E1	19	50978661	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	1497414	50978661	8150322	221	83599											
MCM8	84515	broad.mit.edu	37	chr20	5932699	5932699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcagaggatttggacgagGaagatttcaaagctggaaaa	16	7	14	4	1	1	2	1	0	0	2	1	7	1	6	0	5	1	2	0	5	4	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:5932699G>A	ENST00000378896.3	+	2	415	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|MCM8_ENST00000378886.2_Missense_Mutation_p.G13E|MCM8_ENST00000378883.1_Missense_Mutation_p.G13E	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	13					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTGGACGAGGAAGATTTCAA	0.403													11	39					0	0	0	0	A	5932699	G	A	5932699	3	1	423	1	0	0	0	0	1	0	0	0	9462	1174	41	2	40	2	MCM8	20	5932699	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08		5932699	57092821	222	83600											
HAO1	54363	broad.mit.edu	37	chr20	7886943	7886943	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaaattttcctcaggagaAaatgataaagtactggtttc	15	12	7	7	0	1	2	1	1	0	1	3	3	2	2	2	2	1	2	2	2	7	5			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:7886943A>G	ENST00000378789.3	-	4	630	c.579T>C	c.(577-579)ttT>ttC	p.F193F		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	193	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTCAGGAGAAAATGATAAAG	0.343													3	16					0	0	0	0	G	7886943	A	G	7886943	2	3	423	1	0	0	0	0	0	0	0	1	7001	11	1	5		5	HAO1	20	7886943	Silent	SNP	A	TCGA-HD-8635-01A-11D-2394-08	1954244	7886943	55138577	223	83601											
SGK2	10110	broad.mit.edu	37	chr20	42198105	42198105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgggcctgcgctactccttCcagacacctgagaagctcta	8	9	10	14	1	1	2	0	1	1	2	3	3	3	2	4	1	3	2	4	1	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:42198105C>T	ENST00000373100.1	+	7	769	c.309C>T	c.(307-309)ttC>ttT	p.F103F	SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000341458.4_Silent_p.F163F|SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000423407.3_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	163	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCTACTCCTTCCAGACACCTG	0.617													16	46					0	0	0	0	T	42198105	C	T	42198105	2	4	423	1	0	0	0	0	0	0	0	1	14296	854	30	2		2	SGK2	20	42198105	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	34311162	42198105	20827415	224	83602											
GDAP1L1	78997	broad.mit.edu	37	chr20	42891917	42891917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgaaactggaccatgaaGaggagccccagctctccgag	12	6	11	12	1	2	3	1	2	1	1	3	6	2	5	4	2	3	1	4	2	2	0	rs111998272	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:42891917G>A	ENST00000342560.5	+	4	683	c.595G>A	c.(595-597)Gag>Aag	p.E199K	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	199	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGACCATGAAGAGGAGCCCCA	0.552													13	257					0	0	0	0	A	42891917	G	A	42891917	3	1	423	1	0	0	0	0	1	0	0	0	6358	943	33	2	609	2	GDAP1L1	20	42891917	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	693812	42891917	20133603	225	83603											
PFDN4	5203	broad.mit.edu	37	chr20	52830980	52830980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcacagagctgaaggaaGaaatagaagtaaaaaaggta	22	5	11	3	0	1	4	1	1	0	3	1	6	1	5	0	2	1	3	0	2	10	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:52830980G>A	ENST00000371419.2	+	2	369	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	39					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GCTGAAGGAAGAAATAGAAGT	0.284													4	11					0	0	0	0	A	52830980	G	A	52830980	3	1	423	1	0	0	0	0	1	0	0	0	11829	943	33	2	121	2	PFDN4	20	52830980	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	9939063	52830980	10194540	226	83604											
SPO11	23626	broad.mit.edu	37	chr20	55917836	55917836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaaaagggaccaaatGaaacttgacagtatcctgag	17	7	9	8	0	0	4	0	4	0	0	1	5	1	5	2	1	1	1	2	1	5	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:55917836G>T	ENST00000371263.3	+	12	1120	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	SPO11_ENST00000371260.4_Missense_Mutation_p.M295I|SPO11_ENST00000345868.4_Missense_Mutation_p.M299I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	337					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GGGACCAAATGAAACTTGACA	0.333								Editing and processing nucleases					3	15					1	1	1	0	T	55917836	G	T	55917836	3	4	423	1	0	0	0	0	1	0	0	0	15167	1290	45	2	1057	2	SPO11	20	55917836	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	3086856	55917836	7107684	227	83605											
TUBB1	81027	broad.mit.edu	37	chr20	57599431	57599431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcacagtggcctgcattTtccggggcaagatgtccacc	8	9	10	14	1	1	1	1	0	0	1	3	1	3	1	5	3	1	2	5	3	1	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:57599431T>C	ENST00000217133.1	+	4	1218	c.949T>C	c.(949-951)Ttc>Ctc	p.F317L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	317					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCTGCATTTTCCGGGGCAA	0.597													5	54					0	0	0	0	C	57599431	T	C	57599431	3	2	423	1	0	0	0	0	1	0	0	0	16849	1841	64	5	963	5	TUBB1	20	57599431	Missense_Mutation	SNP	T	TCGA-HD-8635-01A-11D-2394-08	1681595	57599431	5426089	228	83606											
ZNF831	128611	broad.mit.edu	37	chr20	57766863	57766863	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacctggatgtgaggacCgaagctgctccctgtccagg	10	7	13	11	1	0	2	0	1	0	1	2	5	2	4	4	3	3	2	4	3	3	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:57766863C>G	ENST00000371030.2	+	1	789	c.789C>G	c.(787-789)acC>acG	p.T263T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	263						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGTGAGGACCGAAGCTGCTC	0.657													17	62					0	0	0	0	G	57766863	C	G	57766863	2	3	423	1	0	0	0	0	0	0	0	1	18278	639	23	3		3	ZNF831	20	57766863	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	167432	57766863	5258657	229	83607											
ITSN1	6453	broad.mit.edu	37	chr21	35107450	35107450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaggatatcagctaccctCtgcacttccccctgtcatga	10	10	6	15	0	3	1	2	1	1	0	4	2	4	2	3	1	3	2	3	1	3	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr21:35107450C>G	ENST00000381318.3	+	5	575	c.287C>G	c.(286-288)tCt>tGt	p.S96C	ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	96	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCTACCCTCTGCACTTCCC	0.398													15	72					0	0	0	0	G	35107450	C	G	35107450	3	3	423	1	0	0	0	0	1	0	0	0	7979	913	32	2	301	2	ITSN1	21	35107450	Missense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08		35107450	13022445	230	83608											
SMTN	6525	broad.mit.edu	37	chr22	31500330	31500330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggactgtgtgcccctggtgGaggtggacgacatgatgatc	7	10	16	8	1	0	2	0	2	0	0	1	6	0	5	2	5	1	0	2	5	0	0			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr22:31500330G>A	ENST00000358743.1	+	21	2919	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000333137.7_3'UTR|RP3-412A9.10_ENST00000504335.1_RNA	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	878	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCCTGGTGGAGGTGGACGA	0.627													12	86					0	0	0	0	A	31500330	G	A	31500330	3	1	423	1	0	0	0	0	1	0	0	0	14902	1175	41	2	2855	2	SMTN	22	31500330	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08		31500330	19804236	231	83609											
DEPDC5	9681	broad.mit.edu	37	chr22	32161047	32161047	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaatgtcgtagaccctaagGtatgtctttgttttgtactt	8	19	8	6	1	1	1	0	0	1	1	2	1	1	1	1	1	1	4	1	1	5	9			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr22:32161047G>A	ENST00000400246.1	+	5	421		c.e5+1		DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000400248.1_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000382112.3_Splice_Site			O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACCCTAAGGTATGTCTTTG	0.388													7	30					0	0	0	0	A	32161047	G	A	32161047	5	1	423	1	0	0	0	0	0	0	1	0	4479	1275	44	4	294	4	DEPDC5	22	32161047	Splice_Site	SNP	G	TCGA-HD-8635-01A-11D-2394-08	660717	32161047	19143519	232	83610											
ARSF	416	broad.mit.edu	37	chrX	3002435	3002435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacacggaattagcctttgaGagtcagctctggctctgtgt	9	12	11	9	1	3	1	1	1	2	1	3	3	3	2	1	2	3	2	1	2	3	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:3002435G>C	ENST00000381127.1	+	6	779	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ARSF_ENST00000359361.2_Missense_Mutation_p.E186D|ARSF_ENST00000537104.1_Missense_Mutation_p.E186D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGCCTTTGAGAGTCAGCTCT	0.527													12	65					0	0	0	0	C	3002435	G	C	3002435	3	2	423	1	0	0	0	0	1	0	0	0	995	933	33	2	576	2	ARSF	23	3002435	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08		3002435	152268125	233	83611											
SPIN3	169981	broad.mit.edu	37	chrX	57020862	57020863	+	Frame_Shift_Ins	INS	-	-	T																															catctaagagctggtacataINStataatacaggatctttctc																										TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:57020862_57020863insT	ENST00000374919.3	-	2	840_841	c.518_519insA	c.(517-519)tatfs	p.Y173fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	173					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GCTGGTACATATATAATACAGG	0.436													20	35	---	---	---	---					T	57020863	-	T	57020862	7	5	423	1	0	1	1	0	0	0	0	0	15145	456	16	0	261	0	SPIN3	23	57020862	Frame_Shift_Ins	INS	-	TCGA-HD-8635-01A-11D-2394-08	54018427	57020862	98249698	234	83612											
CYLC1	1538	broad.mit.edu	37	chrX	83129133	83129133	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattcaaagaaagatgacAaaaagaaggatgcaaagaaa	25	4	9	3	0	1	6	1	1	0	5	1	7	1	7	0	1	1	1	0	1	8	1			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:83129133A>C	ENST00000329312.4	+	4	1454	c.1417A>C	c.(1417-1419)Aaa>Caa	p.K473Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	473					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAGATGACAAAAAGAAGGA	0.358													3	12					0	0	0	0	C	83129133	A	C	83129133	3	2	423	1	0	0	0	0	1	0	0	0	4173	131	5	5	1431	5	CYLC1	23	83129133	Missense_Mutation	SNP	A	TCGA-HD-8635-01A-11D-2394-08	26108271	83129133	72141427	235	83613											
CHRDL1	91851	broad.mit.edu	37	chrX	109919583	109919583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcggtgaagatcttcCactggcctaaaaggcaaaca	12	9	8	12	1	1	2	0	1	1	1	4	2	3	2	3	3	1	1	3	3	4	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:109919583C>T	ENST00000218054.4	-	12	1443	c.1247G>A	c.(1246-1248)tGg>tAg	p.W416*	CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338*|CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.W410*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	410					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAAGATCTTCCACTGGCCTAA	0.458													8	45					0	0	0	0	T	109919583	C	T	109919583	4	4	423	1	0	0	0	0	0	1	0	0	3402	595	21	4	127	4	CHRDL1	23	109919583	Nonsense_Mutation	SNP	C	TCGA-HD-8635-01A-11D-2394-08	26790450	109919583	45350977	236	83614											
DOCK11	139818	broad.mit.edu	37	chrX	117815131	117815131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaataaaagataaaactgcaGagctgcaaaagctttgctcc	18	8	7	8	0	0	2	0	0	0	2	1	2	1	2	1	0	6	5	1	0	7	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:117815131G>C	ENST00000276204.6	+	50	5856	c.5782G>C	c.(5782-5784)Gag>Cag	p.E1928Q	DOCK11_ENST00000276202.7_Missense_Mutation_p.E1928Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1928	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TAAAACTGCAGAGCTGCAAAA	0.403													18	37					0	0	0	0	C	117815131	G	C	117815131	3	2	423	1	0	0	0	0	1	0	0	0	4722	943	33	2	5980	2	DOCK11	23	117815131	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	7895548	117815131	37455429	237	83615											
GRIA3	2892	broad.mit.edu	37	chrX	122387299	122387299	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcagatgtgcagtttgtCatccagatgcgcccagcctt	8	10	11	12	2	1	2	1	0	0	2	2	3	2	2	3	0	3	3	3	0	0	2			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:122387299C>A	ENST00000264357.5	+	3	706	c.414C>A	c.(412-414)gtC>gtA	p.V138V	GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000371251.1_Silent_p.V138V|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000371256.5_Silent_p.V138V|GRIA3_ENST00000479118.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	138					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGCAGTTTGTCATCCAGATGC	0.512													21	116					0.000132079	0.000137159	1	0	A	122387299	C	A	122387299	2	1	423	1	0	0	0	0	0	0	0	1	6819	813	29	2		2	GRIA3	23	122387299	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	4572168	122387299	32883261	238	83616											
CXorf66	347487	broad.mit.edu	37	chrX	139038258	139038258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaaacatgtaggttttGagtgtttttctcctttgcct	6	19	9	7	0	1	2	0	2	1	0	2	2	1	2	2	1	2	4	2	1	2	7			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:139038258G>T	ENST00000370540.1	-	3	906	c.883C>A	c.(883-885)Caa>Aaa	p.Q295K		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	295						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGTAGGTTTTGAGTGTTTTTC	0.388													33	59					2.80507e-11	3.1438e-11	1	0	T	139038258	G	T	139038258	3	4	423	1	0	0	0	0	1	0	0	0	4150	1299	45	2	206	2	CXorf66	23	139038258	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	16650959	139038258	16232302	239	83617											
SLITRK4	139065	broad.mit.edu	37	chrX	142716543	142716543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactgtggttgccacctatCagtgacttcttacttttttt	6	20	6	9	0	2	1	1	1	1	0	2	1	2	1	2	1	3	1	2	1	3	8			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:142716543C>T	ENST00000381779.4	-	2	2607	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	SLITRK4_ENST00000338017.4_Silent_p.L794L|SLITRK4_ENST00000356928.1_Silent_p.L794L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	794						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCTATCAGTGACTTCT	0.408													12	77					0	0	0	0	T	142716543	C	T	142716543	2	4	423	1	0	0	0	0	0	0	0	1	14833	813	29	2		2	SLITRK4	23	142716543	Silent	SNP	C	TCGA-HD-8635-01A-11D-2394-08	3678285	142716543	12554017	240	83618											
AFF2	2334	broad.mit.edu	37	chrX	148048585	148048585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcactaatgtccggaGacccaagctcacttttgatg	11	9	9	12	1	1	2	1	1	0	1	2	3	2	2	2	1	3	3	2	1	2	3			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:148048585G>T	ENST00000370460.2	+	14	3658	c.3179G>T	c.(3178-3180)aGa>aTa	p.R1060I	AFF2_ENST00000286437.5_Missense_Mutation_p.R701I|AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1060					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCCGGAGACCCAAGCTC	0.522													35	228					3.62531e-18	4.18956e-18	1	0	T	148048585	G	T	148048585	3	4	423	1	0	0	0	0	1	0	0	0	357	942	33	2	3288	2	AFF2	23	148048585	Missense_Mutation	SNP	G	TCGA-HD-8635-01A-11D-2394-08	5332042	148048585	7221975	241	83619											
SLC45A1	50651	broad.mit.edu	37	chr1	8385896	8385896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggcactgctgggcctctCgctcttgctgaatggccggg	4	9	16	12	2	2	1	0	1	2	0	3	1	2	1	2	5	2	4	2	5	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:8385896C>T	ENST00000471889.1	+	4	894	c.509C>T	c.(508-510)tCg>tTg	p.S170L	SLC45A1_ENST00000289877.8_Missense_Mutation_p.S170L|SLC45A1_ENST00000377479.2_Missense_Mutation_p.S204L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	170					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGCCTCTCGCTCTTGCTG	0.592													21	30					0	0	0	0	T	8385896	C	T	8385896	3	4	424	1	0	0	0	0	1	0	0	0	14728	893	31	1	519	1	SLC45A1	1	8385896	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		8385896	240864725	1	83620											
HSPG2	3339	broad.mit.edu	37	chr1	22181343	22181343	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccagagagtccgtacctGaaaggacaaccacttggatc	12	8	9	12	1	0	2	0	1	0	1	3	5	2	4	4	2	2	1	4	2	3	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:22181343G>C	ENST00000374695.3	-	48	6210	c.6131C>G	c.(6130-6132)tCa>tGa	p.S2044*	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2044	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTCCGTACCTGAAAGGACAAC	0.667													4	24					0	0	0	0	C	22181343	G	C	22181343	4	2	424	1	0	0	0	0	0	1	0	0	7483	1294	45	2	7244	2	HSPG2	1	22181343	Nonsense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	13795447	22181343	227069278	2	83621											
HNRNPR	10236	broad.mit.edu	37	chr1	23644993	23644993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taccttagccatgacttctgGatctggttcttccacagggt	7	14	9	11	0	3	1	0	1	3	0	4	2	4	2	3	3	2	1	3	3	2	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:23644993G>C	ENST00000478691.1	-	7	977	c.706C>G	c.(706-708)Cca>Gca	p.P236A	HNRNPR_ENST00000427764.2_Missense_Mutation_p.P296A|HNRNPR_ENST00000426846.2_Missense_Mutation_p.P174A|HNRNPR_ENST00000606561.1_Missense_Mutation_p.P195A|HNRNPR_ENST00000374612.1_Missense_Mutation_p.P334A|HNRNPR_ENST00000374616.3_Missense_Mutation_p.P337A|HNRNPR_ENST00000302271.6_Missense_Mutation_p.P334A	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	334	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATGACTTCTGGATCTGGTTCT	0.418													17	49					0	0	0	0	C	23644993	G	C	23644993	3	2	424	1	0	0	0	0	1	0	0	0	7322	1174	41	2	917	2	HNRNPR	1	23644993	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1463650	23644993	225605628	3	83622											
MACF1	23499	broad.mit.edu	37	chr1	39800393	39800393	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatcagctttggaagagaaActggtggatgaaaacatggt	14	9	13	5	0	1	2	1	1	0	1	1	5	1	4	0	4	3	2	0	4	4	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:39800393A>G	ENST00000564288.1	+	37	8910	c.8133A>G	c.(8131-8133)aaA>aaG	p.K2711K	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.K1151K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Silent_p.K2716K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Silent_p.K2748K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2716					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAAGAGAAACTGGTGGATG	0.403													12	24					0	0	0	0	G	39800393	A	G	39800393	2	3	424	1	0	0	0	0	0	0	0	1	9209	40	2	5		5	MACF1	1	39800393	Silent	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	16155400	39800393	209450228	4	83623											
COL9A2	1298	broad.mit.edu	37	chr1	40767522	40767522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcccggggtgccccCgtcccacttctcctggatca	5	8	10	18	2	2	0	1	0	1	0	5	1	4	1	5	4	1	1	5	4	0	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:40767522C>T	ENST00000372748.3	-	31	1928	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	611	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGGGTGCCCCCGTCCCACTTC	0.512													7	19					0	0	0	0	T	40767522	C	T	40767522	3	4	424	1	0	0	0	0	1	0	0	0	3738	652	23	1	245	1	COL9A2	1	40767522	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	967129	40767522	208483099	5	83624											
LRRC7	57554	broad.mit.edu	37	chr1	70503966	70503966	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacagggtttgttgctgAggaaaccacagccgagaatg	13	7	12	9	1	0	2	0	1	0	1	0	4	0	3	2	2	4	3	2	2	3	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:70503966A>C	ENST00000310961.5	+	22	2778	c.2360A>C	c.(2359-2361)gAg>gCg	p.E787A	LRRC7_ENST00000035383.5_Missense_Mutation_p.E782A|LRRC7_ENST00000415775.2_Missense_Mutation_p.E66A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	782						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTGTTGCTGAGGAAACCACA	0.498													49	120					0	0	0	0	C	70503966	A	C	70503966	3	2	424	1	0	0	0	0	1	0	0	0	9084	304	11	5	2419	5	LRRC7	1	70503966	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	29736444	70503966	178746655	6	83625											
PRKACB	5567	broad.mit.edu	37	chr1	84668368	84668368	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttggtttatctcagggCtacaataaggcagtggattg	9	13	14	5	0	1	0	1	0	1	0	2	1	1	1	0	5	1	4	0	5	4	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:84668368C>A	ENST00000370689.2	+	8	909	c.645C>A	c.(643-645)ggC>ggA	p.G215G	PRKACB_ENST00000394838.2_Silent_p.G222G|PRKACB_ENST00000394839.2_Silent_p.G185G|PRKACB_ENST00000370685.3_Silent_p.G262G|PRKACB_ENST00000370680.1_Silent_p.G221G|PRKACB_ENST00000370682.3_Silent_p.G219G|PRKACB_ENST00000370688.3_Silent_p.G215G	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	215	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TATCTCAGGGCTACAATAAGG	0.373													19	69					3.32936e-07	3.47678e-07	1	0	A	84668368	C	A	84668368	2	1	424	1	0	0	0	0	0	0	0	1	12578	784	28	4		4	PRKACB	1	84668368	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	14164402	84668368	164582253	7	83626											
RBMXL1	494115	broad.mit.edu	37	chr1	89448636	89448636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtaagtggagcactacGtgagttaccataactctcat	11	12	9	9	2	1	1	1	1	1	0	3	2	1	2	1	1	4	3	1	1	4	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89448636G>A	ENST00000399794.2	-	3	1589	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R292C	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	292	Ser-rich.						nucleotide binding|RNA binding										GGAGCACTACGTGAGTTACCA	0.478													64	147					0	0	0	0	A	89448636	G	A	89448636	3	1	424	1	0	0	0	0	1	0	0	0	13235	1145	40	1	302	1	RBMXL1	1	89448636	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	4780268	89448636	159801985	8	83627											
GBP5	115362	broad.mit.edu	37	chr1	89727993	89727993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgttcctgatggagtctCtccctctcctgcatcatttg	5	16	7	13	0	3	1	1	1	2	0	7	2	5	2	3	1	1	2	3	1	0	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89727993C>T	ENST00000343435.5	-	11	2093	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	GBP5_ENST00000370459.3_Silent_p.E519E|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	519						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GATGGAGTCTCTCCCTCTCCT	0.478													33	80					0	0	0	0	T	89727993	C	T	89727993	2	4	424	1	0	0	0	0	0	0	0	1	6326	912	32	2		2	GBP5	1	89727993	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	279357	89727993	159522628	9	83628											
GBP5	115362	broad.mit.edu	37	chr1	89728465	89728465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatttctgcagaacttcttCagcctagcaacccggaaaac	13	10	6	12	1	3	1	1	0	2	1	3	2	3	2	2	1	6	2	2	1	6	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89728465C>T	ENST00000343435.5	-	10	1902	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	GBP5_ENST00000370459.3_Missense_Mutation_p.E456K|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	456						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AGAACTTCTTCAGCCTAGCAA	0.418													14	27					0	0	0	0	T	89728465	C	T	89728465	3	4	424	1	0	0	0	0	1	0	0	0	6326	835	29	2	406	2	GBP5	1	89728465	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	472	89728465	159522156	10	83629											
ATP1A1	476	broad.mit.edu	37	chr1	116944207	116944207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatatttggcctctttgaaGagacagccctggctgctttc	7	14	10	10	0	1	3	0	2	1	1	2	4	1	3	2	2	2	2	2	2	2	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:116944207G>C	ENST00000537345.1	+	21	3244	c.2881G>C	c.(2881-2883)Gag>Cag	p.E961Q	ATP1A1_ENST00000369496.4_Missense_Mutation_p.E930Q|ATP1A1_ENST00000295598.5_Missense_Mutation_p.E961Q	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	961					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CCTCTTTGAAGAGACAGCCCT	0.413													61	157					0	0	0	0	C	116944207	G	C	116944207	3	2	424	1	0	0	0	0	1	0	0	0	1132	943	33	2	2979	2	ATP1A1	1	116944207	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	27215742	116944207	132306414	11	83630											
RFX5	5993	broad.mit.edu	37	chr1	151315599	151315599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaactacactcttcttcCgctctccacgtgcgagagga	8	11	7	15	3	4	1	1	0	4	1	7	3	5	2	2	1	3	1	2	1	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:151315599C>T	ENST00000290524.4	-	11	1092	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	RFX5_ENST00000452513.2_Missense_Mutation_p.R265Q|RFX5_ENST00000368870.2_Missense_Mutation_p.R305Q|RFX5_ENST00000452671.2_Missense_Mutation_p.R305Q	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	305						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCTTCTTCCGCTCTCCACG	0.572													19	44					0	0	0	0	T	151315599	C	T	151315599	3	4	424	1	0	0	0	0	1	0	0	0	13348	652	23	1	940	1	RFX5	1	151315599	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	34371392	151315599	97935022	12	83631											
F5	2153	broad.mit.edu	37	chr1	169526007	169526007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaccttatgatggttctgctCcaggacctggccgttgaaat	8	12	11	10	1	1	2	0	2	1	0	2	4	2	3	4	3	1	3	4	3	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:169526007C>G	ENST00000367796.3	-	6	1030	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	F5_ENST00000546081.1_Missense_Mutation_p.E140Q|F5_ENST00000367797.3_Missense_Mutation_p.E277Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	277	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGGTTCTGCTCCAGGACCTGG	0.498													18	42					0	0	0	0	G	169526007	C	G	169526007	3	3	424	1	0	0	0	0	1	0	0	0	5386	864	30	2	5925	2	F5	1	169526007	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	18210408	169526007	79724614	13	83632											
SMG7	9887	broad.mit.edu	37	chr1	183507529	183507529	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttagcgacaccacttccaGaggagtttgaattacaagga	13	10	9	9	1	0	2	0	1	0	1	1	5	1	4	2	2	2	1	2	2	4	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:183507529G>C	ENST00000367537.3	+	13	1531	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	SMG7_ENST00000507469.1_Missense_Mutation_p.E417Q|SMG7_ENST00000515829.2_Missense_Mutation_p.E417Q|SMG7_ENST00000508461.1_Missense_Mutation_p.E375Q|SMG7_ENST00000456731.2_Missense_Mutation_p.E375Q|SMG7_ENST00000347615.2_Missense_Mutation_p.E417Q			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	417					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACCACTTCCAGAGGAGTTTGA	0.318													27	70					0	0	0	0	C	183507529	G	C	183507529	3	2	424	1	0	0	0	0	1	0	0	0	14886	943	33	2	1295	2	SMG7	1	183507529	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	13981522	183507529	65743092	14	83633											
ZNF281	23528	broad.mit.edu	37	chr1	200376778	200376778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattggaaaccgtgtccaaGagtaaaacttgcattagtgg	15	10	10	6	1	0	1	0	0	0	1	1	2	1	2	2	2	3	2	2	2	6	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:200376778G>A	ENST00000294740.2	-	2	2180	c.2056C>T	c.(2056-2058)Ctt>Ttt	p.L686F	ZNF281_ENST00000367353.1_Missense_Mutation_p.L686F|ZNF281_ENST00000367352.3_Missense_Mutation_p.L650F	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	686					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCGTGTCCAAGAGTAAAACTT	0.398													30	77					0	0	0	0	A	200376778	G	A	200376778	3	1	424	1	0	0	0	0	1	0	0	0	17913	942	33	2	635	2	ZNF281	1	200376778	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	16869249	200376778	48873843	15	83634											
KIF21B	23046	broad.mit.edu	37	chr1	200959461	200959461	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacagctcctcccttttCtggggtcagaggggagggtg	7	9	16	9	0	2	1	1	0	1	1	4	3	4	3	2	6	2	1	2	6	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:200959461C>T	ENST00000332129.2	-	20	3152		c.e20-1		KIF21B_ENST00000360529.5_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000422435.2_Splice_Site	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCCCTTTTCTGGGGTCAGA	0.642													3	11					0	0	0	0	T	200959461	C	T	200959461	5	4	424	1	0	0	0	0	0	0	1	0	8340	927	32	2	2099	2	KIF21B	1	200959461	Splice_Site	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	582683	200959461	48291160	16	83635											
CENPF	1063	broad.mit.edu	37	chr1	214819007	214819007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgttaaaagacaaaactCatctccaggaaaagctgcag	17	7	8	9	0	2	1	1	0	1	1	3	2	2	2	1	1	4	4	1	1	6	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:214819007C>T	ENST00000366955.3	+	13	6262	c.6094C>T	c.(6094-6096)Cat>Tat	p.H2032Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2128					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAAAACTCATCTCCAGGA	0.438													6	87					0	0	0	0	T	214819007	C	T	214819007	3	4	424	1	0	0	0	0	1	0	0	0	3260	826	29	2	6140	2	CENPF	1	214819007	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	13859546	214819007	34431614	17	83636											
MIXL1	83881	broad.mit.edu	37	chr1	226413313	226413313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accactgtgctcctggaactGaaacgaaatgtctgaagccc	12	8	9	12	1	1	2	0	2	1	0	2	4	2	3	3	1	4	1	3	1	4	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:226413313G>A	ENST00000366810.5	+	2	563	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.E175K			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		TCCTGGAACTGAAACGAAATG	0.557													37	66					0	0	0	0	A	226413313	G	A	226413313	3	1	424	1	0	0	0	0	1	0	0	0	9666	1291	45	2	505	2	MIXL1	1	226413313	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	11594306	226413313	22837308	18	83637											
GREB1	9687	broad.mit.edu	37	chr2	11780570	11780570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcttttttctgacgggacGacacatctgaggaagacagc	10	10	11	10	2	3	3	0	2	3	1	3	6	3	5	0	2	1	1	0	2	1	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:11780570G>A	ENST00000381486.2	+	33	6140	c.5840G>A	c.(5839-5841)cGa>cAa	p.R1947Q	GREB1_ENST00000396123.1_Missense_Mutation_p.R945Q|GREB1_ENST00000234142.5_Missense_Mutation_p.R1947Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1947						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGACGGGACGACACATCTGA	0.597													22	70					0	0	0	0	A	11780570	G	A	11780570	3	1	424	1	0	0	0	0	1	0	0	0	6810	1058	37	1	6074	1	GREB1	2	11780570	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		11780570	231418803	19	83638											
SOCS5	9655	broad.mit.edu	37	chr2	46987083	46987083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgttttttgaaccattgCttactatatcactaaatagg	12	16	6	7	0	1	1	1	1	0	0	1	1	1	1	1	1	3	3	1	1	7	9			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:46987083C>T	ENST00000306503.5	+	2	1586	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	SOCS5_ENST00000394861.2_Missense_Mutation_p.L472F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	472	SH2.|SOCS box.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGAACCATTGCTTACTATATC	0.443													30	76					0	0	0	0	T	46987083	C	T	46987083	3	4	424	1	0	0	0	0	1	0	0	0	15005	797	28	4	1416	4	SOCS5	2	46987083	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	35206513	46987083	196212290	20	83639											
USP34	9736	broad.mit.edu	37	chr2	61436093	61436093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtctgtcttcatcagattCtaatagtattctgaaggcac	12	14	7	8	0	6	2	2	1	4	1	6	2	6	2	0	1	0	2	0	1	5	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:61436093C>G	ENST00000398571.2	-	70	8936	c.8860G>C	c.(8860-8862)Gaa>Caa	p.E2954Q	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2954					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCATCAGATTCTAATAGTATT	0.294													4	27					0	0	0	0	G	61436093	C	G	61436093	3	3	424	1	0	0	0	0	1	0	0	0	17161	922	32	2	1824	2	USP34	2	61436093	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	14449010	61436093	181763280	21	83640											
C2orf42	54980	broad.mit.edu	37	chr2	70408755	70408755	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgccttgagtggcagctttCaggcatgaggggacataaca	11	8	13	9	1	1	2	1	2	0	0	1	3	1	3	1	4	2	3	1	4	1	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:70408755C>G	ENST00000264434.2	-	3	742	c.363G>C	c.(361-363)ctG>ctC	p.L121L	C2orf42_ENST00000420306.1_Silent_p.L121L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	121										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGCAGCTTTCAGGCATGAGG	0.572													22	35					0	0	0	0	G	70408755	C	G	70408755	2	3	424	1	0	0	0	0	0	0	0	1	2186	813	29	2		2	C2orf42	2	70408755	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	8972662	70408755	172790618	22	83641											
DCTN1	1639	broad.mit.edu	37	chr2	74600063	74600063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttctcaccttgggtcGccgagttgtggtctggacag	4	14	13	10	2	2	0	1	0	2	0	4	2	2	1	2	3	0	2	2	3	0	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:74600063G>C	ENST00000361874.3	-	7	762	c.445C>G	c.(445-447)Cga>Gga	p.R149G	DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000407639.2_Missense_Mutation_p.R15G|DCTN1_ENST00000409438.1_Missense_Mutation_p.R15G|DCTN1_ENST00000409868.1_Missense_Mutation_p.R132G|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000394003.3_Missense_Mutation_p.R142G	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	149					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACCTTGGGTCGCCGAGTTGTG	0.517													12	39					0	0	0	0	C	74600063	G	C	74600063	3	2	424	1	0	0	0	0	1	0	0	0	4338	1095	38	3	3495	3	DCTN1	2	74600063	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	4191308	74600063	168599310	23	83642											
CTNNA2	1496	broad.mit.edu	37	chr2	80801407	80801407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggtgtatgatggcgttCgggacatcagaaaggctgtg	8	10	16	7	2	1	2	1	1	0	1	2	3	1	3	1	4	0	3	1	4	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:80801407C>T	ENST00000466387.1	+	17	2585	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CTNNA2_ENST00000541047.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R300W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R655W|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R621W			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	621					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGATGGCGTTCGGGACATCAG	0.502													25	86					0	0	0	0	T	80801407	C	T	80801407	3	4	424	1	0	0	0	0	1	0	0	0	4045	875	31	1	1699	1	CTNNA2	2	80801407	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	6201344	80801407	162397966	24	83643											
RNF103	7844	broad.mit.edu	37	chr2	86832363	86832363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattcttctttcaagtgttCagcattataaatggttttga	10	18	6	7	0	4	1	2	1	2	0	4	1	4	1	1	1	1	3	1	1	4	8			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:86832363C>G	ENST00000237455.4	-	4	1629	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	221					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCAAGTGTTCAGCATTATAA	0.373													16	49					0	0	0	0	G	86832363	C	G	86832363	3	3	424	1	0	0	0	0	1	0	0	0	13508	835	29	2	1400	2	RNF103	2	86832363	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	6030956	86832363	156367010	25	83644											
ADRA2B	151	broad.mit.edu	37	chr2	96781855	96781855	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccgctatggccgctgTggcctgcacggagtaggggt	4	7	18	12	4	0	0	0	0	0	0	0	1	0	1	4	6	1	4	4	6	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:96781855T>A	ENST00000409345.3	-	1	129	c.34A>T	c.(34-36)Aca>Tca	p.T12S		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	12					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ATGGCCGCTGTGGCCTGCACG	0.677													5	11					0	0	0	0	A	96781855	T	A	96781855	3	1	424	1	0	0	0	0	1	0	0	0	338	1696	59	5	1313	5	ADRA2B	2	96781855	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	9949492	96781855	146417518	26	83645											
PTPN4	5775	broad.mit.edu	37	chr2	120620221	120620221	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattccacagataacccagTaagtgtaagattttgtcttt	12	15	7	7	0	1	3	0	1	1	2	2	3	2	3	2	0	1	2	2	0	3	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:120620221T>G	ENST00000263708.2	+	3	1017		c.e3+2			NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)							cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATAACCCAGTAAGTGTAAGA	0.373													15	36					0	0	0	0	G	120620221	T	G	120620221	5	3	424	1	0	0	0	0	0	0	1	0	12872	1652	57	5	254	5	PTPN4	2	120620221	Splice_Site	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	23838366	120620221	122579152	27	83646											
SCN1A	6323	broad.mit.edu	37	chr2	166897882	166897882	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaccaggttgacaacatgTttcacttttaaccaatatgg	14	12	6	9	0	1	1	1	1	0	0	1	1	1	1	2	2	3	2	2	2	5	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:166897882T>C	ENST00000423058.2	-	13	2291	c.2274A>G	c.(2272-2274)aaA>aaG	p.K758K	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.K730K|SCN1A_ENST00000375405.3_Silent_p.K747K|SCN1A_ENST00000303395.4_Silent_p.K758K|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	758						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACAACATGTTTCACTTTTA	0.403													26	53					0	0	0	0	C	166897882	T	C	166897882	2	2	424	1	0	0	0	0	0	0	0	1	14001	1722	60	5		5	SCN1A	2	166897882	Silent	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	46277661	166897882	76301491	28	83647											
CCDC150	284992	broad.mit.edu	37	chr2	197565898	197565898	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcctatgaaaacggaaaActccaggtatgagatttatt	14	11	9	7	1	0	2	0	2	0	1	1	4	1	3	2	3	2	1	2	3	7	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:197565898A>G	ENST00000389175.4	+	15	1824	c.1689A>G	c.(1687-1689)aaA>aaG	p.K563K	CCDC150_ENST00000272831.7_Silent_p.K231K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	563										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAACGGAAAACTCCAGGTAT	0.328													3	7					0	0	0	0	G	197565898	A	G	197565898	2	3	424	1	0	0	0	0	0	0	0	1	2810	40	2	5		5	CCDC150	2	197565898	Silent	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	30668016	197565898	45633475	29	83648											
CASP8	841	broad.mit.edu	37	chr2	202137501	202137501	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaagaattcagcaaaggTagaaacaacctgacagccgg	17	6	10	8	1	1	4	1	2	0	2	1	4	1	4	2	2	4	2	2	2	7	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:202137501T>C	ENST00000358485.4	+	4	923		c.e4+2		CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000432109.2_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCAGCAAAGGTAGAAACAACC	0.413										HNSCC(4;0.00038)			29	50					0	0	0	0	C	202137501	T	C	202137501	5	2	424	1	0	0	0	0	0	0	1	0	2702	1652	57	5	843	5	CASP8	2	202137501	Splice_Site	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	4571603	202137501	41061872	30	83649											
CASP8	841	broad.mit.edu	37	chr2	202149973	202149973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataactgtgtttcctacCgaaaccctgcagagggaacc	12	9	9	11	1	0	2	0	1	0	1	1	4	1	3	4	1	5	2	4	1	5	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:202149973C>T	ENST00000358485.4	+	8	1610	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	413					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGTTTCCTACCGAAACCCTGC	0.488										HNSCC(4;0.00038)			22	61					0	0	0	0	T	202149973	C	T	202149973	4	4	424	1	0	0	0	0	0	1	0	0	2702	644	23	1	1544	1	CASP8	2	202149973	Nonsense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	12472	202149973	41049400	31	83650											
BARD1	580	broad.mit.edu	37	chr2	215646136	215646136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttactcacaacatatctGactttcttacttcgagggct	9	15	6	11	1	3	1	1	1	2	0	4	2	3	1	0	1	3	2	0	1	4	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:215646136G>A	ENST00000260947.4	-	4	596	c.462C>T	c.(460-462)gtC>gtT	p.V154V	BARD1_ENST00000449967.2_Silent_p.V10V|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	154					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAACATATCTGACTTTCTTAC	0.368									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	41					0	0	0	0	A	215646136	G	A	215646136	2	1	424	1	0	0	0	0	0	0	0	1	1316	1277	45	2		2	BARD1	2	215646136	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	13496163	215646136	27553237	32	83651											
IRS1	3667	broad.mit.edu	37	chr2	227661962	227661962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggactcgtgcccaagcctGttcctggggtgcagcggtgg	4	9	16	12	2	0	0	0	0	0	0	2	1	1	1	3	5	4	2	3	5	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:227661962G>A	ENST00000305123.4	-	1	2513	c.1493C>T	c.(1492-1494)aCa>aTa	p.T498I		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	498					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCCAAGCCTGTTCCTGGGGT	0.602											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	70					0	0	0	0	A	227661962	G	A	227661962	3	1	424	1	0	0	0	0	1	0	0	0	7893	1377	48	4	2239	4	IRS1	2	227661962	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	12015826	227661962	15537411	33	83652											
IL5RA	3568	broad.mit.edu	37	chr3	3137058	3137058	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggaaaagcagacactggTttctcccattggatagagag	13	10	11	7	0	1	2	0	0	1	2	2	5	1	4	1	3	1	2	1	3	3	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:3137058T>A	ENST00000446632.2	-	8	1354	c.780A>T	c.(778-780)aaA>aaT	p.K260N	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000456302.1_Missense_Mutation_p.K260N|IL5RA_ENST00000430514.2_Missense_Mutation_p.K260N|IL5RA_ENST00000383846.1_Missense_Mutation_p.K260N|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000256452.3_Missense_Mutation_p.K260N|IL5RA_ENST00000311981.8_Missense_Mutation_p.K260N|IL5RA_ENST00000438560.1_Missense_Mutation_p.K260N	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	260					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAGACACTGGTTTCTCCCATT	0.358													8	25					0	0	0	0	A	3137058	T	A	3137058	3	1	424	1	0	0	0	0	1	0	0	0	7753	1722	60	5	528	5	IL5RA	3	3137058	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08		3137058	194885372	34	83653											
CACNA1D	776	broad.mit.edu	37	chr3	53837489	53837489	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctcccaactatttgccgGgaagacccagagatacatgg	12	7	10	12	1	0	2	0	0	0	2	1	4	1	3	3	2	4	1	3	2	4	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:53837489G>T	ENST00000288139.3	+	45	5653	c.5535G>T	c.(5533-5535)cgG>cgT	p.R1845R	CACNA1D_ENST00000544977.1_Silent_p.R204R|CACNA1D_ENST00000422281.2_Silent_p.R1801R|CACNA1D_ENST00000350061.5_Silent_p.R1825R	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1825					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTATTTGCCGGGAAGACCCAG	0.552													32	108					6.00712e-18	6.43945e-18	1	0	T	53837489	G	T	53837489	2	4	424	1	0	0	0	0	0	0	0	1	2566	1219	43	4		4	CACNA1D	3	53837489	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	50700431	53837489	144184941	35	83654											
ADAMTS9	56999	broad.mit.edu	37	chr3	64633621	64633621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcattacttgcctttcCaggctcgcactccgtcccat	6	11	8	16	2	0	0	0	0	0	0	4	0	3	0	4	2	2	3	4	2	1	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:64633621C>T	ENST00000498707.1	-	11	2047	c.1705G>A	c.(1705-1707)Gga>Aga	p.G569R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G541R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	569	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTGCCTTTCCAGGCTCGCAC	0.507													28	45					0	0	0	0	T	64633621	C	T	64633621	3	4	424	1	0	0	0	0	1	0	0	0	273	603	21	4	4218	4	ADAMTS9	3	64633621	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	10796132	64633621	133388809	36	83655											
SLC35A5	55032	broad.mit.edu	37	chr3	112301560	112301560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccaaacccaagagtgatGagtcagatgaagatactttc	15	10	8	8	0	1	6	1	3	0	3	2	6	1	6	2	0	3	0	2	0	5	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:112301560G>A	ENST00000492406.1	+	7	1535	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	418						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CAAGAGTGATGAGTCAGATGA	0.333													15	27					0	0	0	0	A	112301560	G	A	112301560	3	1	424	1	0	0	0	0	1	0	0	0	14662	1291	45	2	1274	2	SLC35A5	3	112301560	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	47667939	112301560	85720870	37	83656											
DVL3	1857	broad.mit.edu	37	chr3	183888241	183888241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcctgcgggggccgCgggagcgggcgcccagcgag	5	1	21	14	6	0	0	0	0	0	0	0	2	0	1	3	4	5	2	3	4	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:183888241C>T	ENST00000313143.3	+	15	2097	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R600W	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	617					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCGGGGGCCGCGGGAGCGGGC	0.726													4	2					0	0	0	0	T	183888241	C	T	183888241	3	4	424	1	0	0	0	0	1	0	0	0	4873	759	27	1	1907	1	DVL3	3	183888241	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	71586681	183888241	14134189	38	83657											
CHRD	8646	broad.mit.edu	37	chr3	184100717	184100717	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagaacttcaggccaatgtCtcagcccaggtgagtgggga	10	7	14	10	1	2	2	2	1	1	1	3	4	2	3	2	4	2	0	2	4	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:184100717C>G	ENST00000204604.1	+	9	1302	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Silent_p.V352V|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000450923.1_Silent_p.V352V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	352	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGCCAATGTCTCAGCCCAGG	0.592													5	19					0	0	0	0	G	184100717	C	G	184100717	2	3	424	1	0	0	0	0	0	0	0	1	3401	900	32	2		2	CHRD	3	184100717	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	212476	184100717	13921713	39	83658											
ATP13A5	344905	broad.mit.edu	37	chr3	193023355	193023355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaatgacttacctgatgaGatgaggcacacactggatgt	15	9	10	7	0	0	4	0	4	0	1	0	6	0	5	1	2	1	1	1	2	3	1	rs150829984		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:193023355G>A	ENST00000342358.4	-	23	2788	c.2671C>T	c.(2671-2673)Ctc>Ttc	p.L891F	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	891					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TACCTGATGAGATGAGGCACA	0.443													23	62					0	0	0	0	A	193023355	G	A	193023355	3	1	424	1	0	0	0	0	1	0	0	0	1131	942	33	2	1015	2	ATP13A5	3	193023355	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	8922638	193023355	4999075	40	83659											
WFS1	7466	broad.mit.edu	37	chr4	6302808	6302808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaggactgcatcccctGctcggagctggctgtcatca	8	8	11	14	1	2	0	2	0	0	0	4	2	3	2	2	3	4	5	2	3	1	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:6302808G>T	ENST00000226760.1	+	8	1456	c.1286G>T	c.(1285-1287)tGc>tTc	p.C429F	WFS1_ENST00000503569.1_Missense_Mutation_p.C429F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	429					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGCATCCCCTGCTCGGAGCTG	0.607													45	100					3.77016e-25	4.08795e-25	1	0	T	6302808	G	T	6302808	3	4	424	1	0	0	0	0	1	0	0	0	17456	1319	46	4	1312	4	WFS1	4	6302808	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		6302808	184851468	41	83660											
GBA3	57733	broad.mit.edu	37	chr4	22729276	22729276	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacagtggtgagttatctCaggcacccacttttctttca	8	14	9	10	0	3	1	2	1	2	0	4	2	3	2	1	3	0	2	1	3	1	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:22729276C>T	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	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						TGAGTTATCTCAGGCACCCAC	0.408													51	123					0	0	0	0	T	22729276	C	T	22729276	1	4	424	0	1	0	0	0	0	0	0	0	6317	841	29	2		2	GBA3	4	22729276	RNA	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	16426468	22729276	168425000	42	83661											
ODAM	54959	broad.mit.edu	37	chr4	71063017	71063017	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaatcttaataatggtcaActtttgccactacaacttca	13	15	3	10	0	3	0	2	0	1	0	3	0	3	0	1	1	4	0	1	1	6	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:71063017A>T	ENST00000396094.2	+	3	168	c.120A>T	c.(118-120)caA>caT	p.Q40H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	40					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ATAATGGTCAACTTTTGCCAC	0.274													5	23					0	0	0	0	T	71063017	A	T	71063017	3	4	424	1	0	0	0	0	1	0	0	0	10895	40	2	5	130	5	ODAM	4	71063017	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	48333741	71063017	120091259	43	83662											
ANKRD50	57182	broad.mit.edu	37	chr4	125590567	125590567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttggctgtgaagaattacTttgtttcgcttttttcccag	6	19	8	8	1	0	2	0	1	0	1	2	2	1	2	1	1	1	3	1	1	3	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:125590567T>A	ENST00000504087.1	-	4	4902	c.3865A>T	c.(3865-3867)Agt>Tgt	p.S1289C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1110C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1289	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAAGAATTACTTTGTTTCGCT	0.408													46	103					0	0	0	0	A	125590567	T	A	125590567	3	1	424	1	0	0	0	0	1	0	0	0	676	1609	56	5	428	5	ANKRD50	4	125590567	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	54527550	125590567	65563709	44	83663											
ANKRD50	57182	broad.mit.edu	37	chr4	125599995	125599995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttacacccttcatcaacaGaatcaacaagcaggtatagg	15	9	7	10	0	3	1	3	0	0	1	3	1	3	1	1	2	4	3	1	2	7	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:125599995G>A	ENST00000504087.1	-	3	1615	c.578C>T	c.(577-579)tCt>tTt	p.S193F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	193										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCATCAACAGAATCAACAAG	0.438													27	101					0	0	0	0	A	125599995	G	A	125599995	3	1	424	1	0	0	0	0	1	0	0	0	676	942	33	2	3719	2	ANKRD50	4	125599995	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	9428	125599995	65554281	45	83664											
DDX60	55601	broad.mit.edu	37	chr4	169145398	169145398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccactcttcacttacatggTttggagtttctagtcgaagc	8	14	8	11	1	3	0	1	0	2	0	4	2	3	1	1	2	2	2	1	2	3	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:169145398T>C	ENST00000393743.3	-	35	5111	c.4820A>G	c.(4819-4821)aAc>aGc	p.N1607S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1607							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACTTACATGGTTTGGAGTTTC	0.373													7	22					0	0	0	0	C	169145398	T	C	169145398	3	2	424	1	0	0	0	0	1	0	0	0	4410	1725	60	5	334	5	DDX60	4	169145398	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	43545403	169145398	22008878	46	83665											
CLCN3	1182	broad.mit.edu	37	chr4	170641211	170641211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgttgaatagcacaactCtttaacctgagggagtcatc	12	13	8	8	0	2	2	1	2	1	0	3	3	2	3	1	1	3	2	1	1	4	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:170641211C>T	ENST00000347613.4	+	14	3150	c.2596C>T	c.(2596-2598)Ctt>Ttt	p.L866F	CLCN3_ENST00000513761.1_3'UTR|CLCN3_ENST00000360642.3_3'UTR|CLCN3_ENST00000504131.2_3'UTR	NM_173872.3	NP_776297.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	0					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TAGCACAACTCTTTAACCTGA	0.383													5	37					0	0	0	0	T	170641211	C	T	170641211	3	4	424	1	0	0	0	0	1	0	0	0	3494	913	32	2	2646	2	CLCN3	4	170641211	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	1495813	170641211	20513065	47	83666											
CCDC110	256309	broad.mit.edu	37	chr4	186379847	186379847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaactgtttctattatttGaagaagtgtctcttgttccg	8	20	7	6	1	2	2	0	1	2	1	4	2	3	2	1	0	1	2	1	0	5	8			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:186379847G>C	ENST00000307588.3	-	6	1969	c.1894C>G	c.(1894-1896)Caa>Gaa	p.Q632E	CCDC110_ENST00000510617.1_Missense_Mutation_p.Q632E|CCDC110_ENST00000393540.3_Missense_Mutation_p.Q595E	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	632						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTATTATTTGAAGAAGTGTC	0.328													8	28					0	0	0	0	C	186379847	G	C	186379847	3	2	424	1	0	0	0	0	1	0	0	0	2772	1299	45	2	615	2	CCDC110	4	186379847	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	15738636	186379847	4774429	48	83667											
CCDC110	256309	broad.mit.edu	37	chr4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaatccttttcaatgcGcgtgccaaacaccagatttt	12	12	5	12	2	1	1	1	0	0	1	2	1	2	1	4	0	4	0	4	0	4	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:186382220G>A	ENST00000307588.3	-	5	406	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Intron	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	111						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338													15	45					0	0	0	0	A	186382220	G	A	186382220	3	1	424	1	0	0	0	0	1	0	0	0	2772	1087	38	1	2182	1	CCDC110	4	186382220	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2373	186382220	4772056	49	83668											
FAT1	2195	broad.mit.edu	37	chr4	187560919	187560919	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctcggtctagcttccttGacgtagttgtgatgagacct	6	15	11	9	2	2	3	0	3	2	1	4	4	3	3	2	1	1	4	2	1	2	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:187560919G>C	ENST00000441802.2	-	4	3808	c.3599C>G	c.(3598-3600)tCa>tGa	p.S1200*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1200	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAGCTTCCTTGACGTAGTTGT	0.328										HNSCC(5;0.00058)			16	50					0	0	0	0	C	187560919	G	C	187560919	4	2	424	1	0	0	0	0	0	1	0	0	5734	1294	45	2	10263	2	FAT1	4	187560919	Nonsense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1178699	187560919	3593357	50	83669											
EGFLAM	133584	broad.mit.edu	37	chr5	38370546	38370546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgcagctggcccagtGacatcatccggaccctctgt	6	7	10	18	2	2	1	1	1	1	0	3	2	3	2	5	2	1	2	5	2	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:38370546G>T	ENST00000322350.5	+	6	1040	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D232Y	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	232	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.D232N(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGGCCCAGTGACATCATCCG	0.577													11	29					0.010729	0.0108829	1	0	T	38370546	G	T	38370546	3	4	424	1	0	0	0	0	1	0	0	0	5002	1290	45	2	716	2	EGFLAM	5	38370546	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		38370546	142544714	51	83670											
POLK	51426	broad.mit.edu	37	chr5	74892767	74892767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattcttcttctactgtttCattggaaaacgaagatgttg	11	16	8	6	1	4	1	1	0	3	1	4	4	4	2	0	1	2	2	0	1	5	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:74892767C>T	ENST00000241436.4	+	13	2421	c.2249C>T	c.(2248-2250)tCa>tTa	p.S750L	POLK_ENST00000352007.5_Missense_Mutation_p.S552L|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.S552L|POLK_ENST00000380481.3_Missense_Mutation_p.S660L|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	750					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TCTACTGTTTCATTGGAAAAC	0.373								DNA polymerases (catalytic subunits)					12	38					0	0	0	0	T	74892767	C	T	74892767	3	4	424	1	0	0	0	0	1	0	0	0	12276	838	29	2	2295	2	POLK	5	74892767	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	36522221	74892767	106022493	52	83671											
ZMAT2	153527	broad.mit.edu	37	chr5	140081702	140081702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccaagacaacccctcaatCtgagatgggagggtgagttg	12	8	12	9	0	2	3	1	2	1	2	2	5	2	4	3	2	2	1	3	2	4	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140081702C>G	ENST00000274712.3	+	3	351	c.224C>G	c.(223-225)tCt>tGt	p.S75C		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	75						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCTCAATCTGAGATGGGA	0.453													29	61					0	0	0	0	G	140081702	C	G	140081702	3	3	424	1	0	0	0	0	1	0	0	0	17787	913	32	2	234	2	ZMAT2	5	140081702	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	65188935	140081702	40833558	53	83672											
PCDHA5	56143	broad.mit.edu	37	chr5	140202489	140202489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcagcgtgtctgaccgtGactcaggtgccaacgggcag	8	8	14	11	3	3	3	2	3	1	0	3	3	3	3	2	2	3	1	2	2	1	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140202489G>T	ENST00000529859.1	+	1	1129	c.1129G>T	c.(1129-1131)Gac>Tac	p.D377Y	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.D377Y|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D377Y	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGACCGTGACTCAGGTGC	0.547													39	94					9.73076e-26	1.05916e-25	1	0	T	140202489	G	T	140202489	3	4	424	1	0	0	0	0	1	0	0	0	11598	1290	45	2	1131	2	PCDHA5	5	140202489	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	120787	140202489	40712771	54	83673											
PCDHA10	56139	broad.mit.edu	37	chr5	140237320	140237320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagaacgacaacgctcccGcgctgctggcgtctcccgct	7	6	11	17	7	1	1	0	0	1	1	3	3	2	1	2	1	3	4	2	1	2	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140237320G>A	ENST00000307360.5	+	1	1687	c.1687G>A	c.(1687-1689)Gcg>Acg	p.A563T	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCTCCCGCGCTGCTGGC	0.687													24	55					0	0	0	0	A	140237320	G	A	140237320	3	1	424	1	0	0	0	0	1	0	0	0	11591	1087	38	1	1689	1	PCDHA10	5	140237320	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	34831	140237320	40677940	55	83674											
PCDHA12	56137	broad.mit.edu	37	chr5	140256212	140256212	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggagccaatggacaggtCatctgctcactgacacctca	10	9	9	13	0	5	1	3	1	2	0	5	3	5	3	2	3	2	1	2	3	1	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140256212C>G	ENST00000398631.2	+	1	1155	c.1155C>G	c.(1153-1155)gtC>gtG	p.V385V	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGACAGGTCATCTGCTCAC	0.552													41	94					0	0	0	0	G	140256212	C	G	140256212	2	3	424	1	0	0	0	0	0	0	0	1	11593	813	29	2		2	PCDHA12	5	140256212	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	18892	140256212	40659048	56	83675											
FBXW11	23291	broad.mit.edu	37	chr5	171295716	171295716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggaggcacatttaagaaatCccaaatcaaaatagtgtcat	17	9	8	7	0	2	1	2	0	0	1	3	2	3	2	1	2	0	1	1	2	6	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:171295716C>T	ENST00000296933.6	-	12	1883	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	FBXW11_ENST00000393802.2_Missense_Mutation_p.D484N|FBXW11_ENST00000425623.2_Missense_Mutation_p.D486N|FBXW11_ENST00000265094.5_Missense_Mutation_p.D518N	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	518					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTAAGAAATCCCAAATCAAA	0.438													14	35					0	0	0	0	T	171295716	C	T	171295716	3	4	424	1	0	0	0	0	1	0	0	0	5809	855	30	2	80	2	FBXW11	5	171295716	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	31039504	171295716	9619544	57	83676											
FAM8A1	51439	broad.mit.edu	37	chr6	17602854	17602854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattccatccttggcccacaGatttatggcagagatggtgg	9	12	11	9	0	0	2	0	0	0	2	2	3	2	2	3	4	0	1	3	4	2	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:17602854G>A	ENST00000259963.3	+	2	801	c.746G>A	c.(745-747)aGa>aAa	p.R249K		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	249	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TTGGCCCACAGATTTATGGCA	0.353													17	18					0	0	0	0	A	17602854	G	A	17602854	3	1	424	1	0	0	0	0	1	0	0	0	5694	942	33	2	752	2	FAM8A1	6	17602854	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		17602854	153512213	58	83677											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156626	26156626	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgccttcaacatgtccgAgactgcgcctgccgcgcccg	5	8	11	17	5	1	1	1	0	0	1	2	2	2	1	5	0	4	1	5	0	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:26156626A>T	ENST00000304218.3	+	1	68	c.8A>T	c.(7-9)gAg>gTg	p.E3V		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	3					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AACATGTCCGAGACTGCGCCT	0.662													52	40					0	0	0	0	T	26156626	A	T	26156626	3	4	424	1	0	0	0	0	1	0	0	0	7176	304	11	5	10	5	HIST1H1E	6	26156626	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	8553772	26156626	144958441	59	83678											
HLA-A	3105	broad.mit.edu	37	chr6	29910589	29910590	+	Frame_Shift_Ins	INS	-	-	C																															cccggcccggccgcggggagINSccccgcttcatcgccgtggg																								rs61759956		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:29910589_29910590insC	ENST00000396634.1	+	4	470_471	c.129_130insC	c.(127-132)gacccgfs	p.DP43fs	HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.DP43fs|HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.DP43fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.DP43fs			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCGCGGGGAGCCCCGCTTCAT	0.698									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	21	---	---	---	---					C	29910590	-	C	29910589	7	5	424	1	0	1	1	0	0	0	0	0	7245	962	34	0	135	0	HLA-A	6	29910589	Frame_Shift_Ins	INS	-	TCGA-HD-A4C1-01A-11D-A24D-08	3753963	29910589	141204478	60	83679											
HLA-A	3105	broad.mit.edu	37	chr6	29910741	29910741	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggaatgtgaaggcccAgtcacagactgaccgagtgg	12	5	14	10	2	1	3	1	2	0	1	1	6	1	4	2	3	0	0	2	3	2	0	rs45570938		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:29910741A>C	ENST00000396634.1	+	4	622	c.281A>C	c.(280-282)cAg>cCg	p.Q94P	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q94P|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q94P|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q94P			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	94	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTGAAGGCCCAGTCACAGACT	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	2					0	0	0	0	C	29910741	A	C	29910741	3	2	424	1	0	0	0	0	1	0	0	0	7245	188	7	5	287	5	HLA-A	6	29910741	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	152	29910741	141204326	61	83680											
C6orf136	221545	broad.mit.edu	37	chr6	30618826	30618826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtattccttggatgtggAattcatcaatgagatcctca	10	15	8	8	0	4	1	3	1	1	1	6	4	6	3	2	2	0	1	2	2	3	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:30618826A>G	ENST00000293604.6	+	3	1266	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	C6orf136_ENST00000376471.4_Missense_Mutation_p.E43G|C6orf136_ENST00000376473.5_Missense_Mutation_p.E177G|C6orf136_ENST00000528347.2_Missense_Mutation_p.E34G	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	177										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTGGATGTGGAATTCATCAAT	0.468													26	73					0	0	0	0	G	30618826	A	G	30618826	3	3	424	1	0	0	0	0	1	0	0	0	2352	246	9	5	1083	5	C6orf136	6	30618826	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	708085	30618826	140496241	62	83681											
TUBB	203068	broad.mit.edu	37	chr6	30690335	30690335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggaggtgatcagtgatGaacatggcatcgaccccacc	10	8	12	11	1	2	3	1	3	1	0	3	5	2	4	3	3	1	1	3	3	1	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:30690335G>A	ENST00000396389.1	+	2	618	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TUBB_ENST00000327892.8_Missense_Mutation_p.E27K|TUBB_ENST00000396384.1_5'UTR|TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000435534.1_Missense_Mutation_p.E27K			P07437	TBB5_HUMAN	tubulin, beta class I	27					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GATCAGTGATGAACATGGCAT	0.552													16	29					0	0	0	0	A	30690335	G	A	30690335	3	1	424	1	0	0	0	0	1	0	0	0	16848	1291	45	2	85	2	TUBB	6	30690335	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	71509	30690335	140424732	63	83682											
HLA-B	3106	broad.mit.edu	37	chr6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacaagctcagtgtcctGagtttggtcctcgccatccc	6	11	8	16	1	1	1	1	1	0	0	6	1	5	1	5	1	1	2	5	1	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				40	102					0	0	0	0	C	31323241	G	C	31323241	3	2	424	1	0	0	0	0	1	0	0	0	7246	1299	45	2	356	2	HLA-B	6	31323241	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	632906	31323241	139791826	64	83683											
SLC44A4	80736	broad.mit.edu	37	chr6	31833291	31833291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgatgtatgcattgCggtttaggaacttgataaat	12	14	9	6	1	1	2	1	2	0	0	1	3	1	3	1	2	3	3	1	2	5	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:31833291C>T	ENST00000544672.1	-	16	1738	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	SLC44A4_ENST00000375562.4_Missense_Mutation_p.R515H|SLC44A4_ENST00000229729.6_Missense_Mutation_p.R557H	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	557						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTATGCATTGCGGTTTAGGAA	0.527													24	64					0	0	0	0	T	31833291	C	T	31833291	3	4	424	1	0	0	0	0	1	0	0	0	14726	768	27	1	486	1	SLC44A4	6	31833291	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	510050	31833291	139281776	65	83684											
BCKDHB	594	broad.mit.edu	37	chr6	80912822	80912822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctctttatttcaggttCatgtgatccgagaggtagct	7	18	9	7	1	3	2	2	1	1	1	5	3	4	2	1	2	1	3	1	2	2	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:80912822C>G	ENST00000320393.6	+	8	891	c.844C>G	c.(844-846)Cat>Gat	p.H282D	BCKDHB_ENST00000356489.5_Missense_Mutation_p.H282D|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	282					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTTCAGGTTCATGTGATCCG	0.378													17	29					0	0	0	0	G	80912822	C	G	80912822	3	3	424	1	0	0	0	0	1	0	0	0	1364	826	29	2	874	2	BCKDHB	6	80912822	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	49079531	80912822	90202245	66	83685											
TAAR9	134860	broad.mit.edu	37	chr6	132859895	132859895	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggatatgcattgttctttCctggttcttttctgtcacat	6	19	8	8	0	4	0	1	0	3	0	5	1	5	1	1	2	1	3	1	2	1	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:132859895C>T	ENST00000434551.1	+	0	467					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ATTGTTCTTTCCTGGTTCTTT	0.413													14	47					0	0	0	0	T	132859895	C	T	132859895	1	4	424	0	1	0	0	0	0	0	0	0	15585	855	30	2		2	TAAR9	6	132859895	RNA	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	51947073	132859895	38255172	67	83686											
GRM1	2911	broad.mit.edu	37	chr6	146720268	146720268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagatctgcacccggaagcCcaggttcatgagtgcctggg	9	7	14	11	1	2	2	1	1	1	1	2	4	2	3	3	3	3	2	3	3	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:146720268C>T	ENST00000392299.2	+	8	2563	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	GRM1_ENST00000507907.1_Missense_Mutation_p.P698L|GRM1_ENST00000361719.2_Missense_Mutation_p.P698L|GRM1_ENST00000355289.4_Missense_Mutation_p.P698L|GRM1_ENST00000282753.1_Missense_Mutation_p.P698L|GRM1_ENST00000492807.2_Missense_Mutation_p.P698L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	698					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCCGGAAGCCCAGGTTCATG	0.517													38	107					0	0	0	0	T	146720268	C	T	146720268	3	4	424	1	0	0	0	0	1	0	0	0	6846	623	22	4	2119	4	GRM1	6	146720268	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	13860373	146720268	24394799	68	83687											
AKAP12	9590	broad.mit.edu	37	chr6	151669886	151669886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgagcaaaagagactcCgataaagagatggctactaa	17	7	11	6	1	0	3	0	1	0	2	1	7	1	3	1	1	2	2	1	1	6	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:151669886C>T	ENST00000402676.2	+	4	600	c.360C>T	c.(358-360)tcC>tcT	p.S120S	AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000354675.6_Silent_p.S22S|AKAP12_ENST00000359755.5_Silent_p.S15S|AKAP12_ENST00000253332.1_Silent_p.S120S	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	120					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.S120S(1)|p.S120F(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAAGAGACTCCGATAAAGAGA	0.453													10	21					0	0	0	0	T	151669886	C	T	151669886	2	4	424	1	0	0	0	0	0	0	0	1	448	639	23	1		1	AKAP12	6	151669886	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	4949618	151669886	19445181	69	83688											
COL28A1	340267	broad.mit.edu	37	chr7	7516796	7516796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctctcctggtactccctCaggaccacggggaccctggt	5	9	10	17	1	2	0	1	0	1	0	5	2	4	2	5	5	1	1	5	5	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:7516796C>G	ENST00000399429.3	-	14	1320	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	394	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTACTCCCTCAGGACCACGG	0.488													4	26					0	0	0	0	G	7516796	C	G	7516796	3	3	424	1	0	0	0	0	1	0	0	0	3716	835	29	2	2285	2	COL28A1	7	7516796	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		7516796	151621867	70	83689											
DNAH11	8701	broad.mit.edu	37	chr7	21630575	21630575	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgaaatatcttttgatgTtgaagaaacaagacatacca	18	11	7	5	0	1	5	0	3	1	2	1	5	1	5	1	0	2	1	1	0	7	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:21630575T>A	ENST00000328843.6	+	13	2240	c.2209T>A	c.(2209-2211)Ttg>Atg	p.L737M	DNAH11_ENST00000409508.3_Missense_Mutation_p.L737M			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	737	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTTTTGATGTTGAAGAAACA	0.279									Kartagener syndrome				3	1					0	0	0	0	A	21630575	T	A	21630575	3	1	424	1	0	0	0	0	1	0	0	0	4636	1722	60	5	2259	5	DNAH11	7	21630575	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	14113779	21630575	137508088	71	83690											
CREB5	9586	broad.mit.edu	37	chr7	28857752	28857752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgttaacacataaagActgcccaataacagccatgc	14	10	7	10	0	0	1	0	0	0	1	0	1	0	1	2	0	5	3	2	0	5	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:28857752A>G	ENST00000357727.2	+	10	1709	c.1319A>G	c.(1318-1320)gAc>gGc	p.D440G	CREB5_ENST00000396299.2_Missense_Mutation_p.D407G|CREB5_ENST00000396298.2_Missense_Mutation_p.D301G|CREB5_ENST00000396300.2_Missense_Mutation_p.D433G|CREB5_ENST00000409603.1_Missense_Mutation_p.D407G	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	440					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACACATAAAGACTGCCCAATA	0.358													16	48					0	0	0	0	G	28857752	A	G	28857752	3	3	424	1	0	0	0	0	1	0	0	0	3890	275	10	5	1408	5	CREB5	7	28857752	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	7227177	28857752	130280911	72	83691											
AEBP1	165	broad.mit.edu	37	chr7	44151108	44151108	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccccctctgccccagctCatgaaggtggtgaacgagga	8	7	11	15	1	2	2	1	2	1	0	3	4	3	3	5	3	3	1	5	3	2	0	rs150374163	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:44151108C>T	ENST00000223357.3	+	15	2024	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	AEBP1_ENST00000450684.2_Silent_p.L148L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	573	Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGCCCCAGCTCATGAAGGTGG	0.602													8	12					0	0	0	0	T	44151108	C	T	44151108	2	4	424	1	0	0	0	0	0	0	0	1	349	813	29	2		2	AEBP1	7	44151108	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	15293356	44151108	114987555	73	83692											
ABCA13	154664	broad.mit.edu	37	chr7	48319203	48319203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttgacacacctttgagTcagaatataactcatcatca	14	14	4	9	0	4	3	4	2	0	1	4	3	4	3	1	0	1	0	1	0	4	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:48319203T>C	ENST00000435803.1	+	18	8436	c.8412T>C	c.(8410-8412)agT>agC	p.S2804S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2804					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCTTTGAGTCAGAATATAA	0.328													10	24					0	0	0	0	C	48319203	T	C	48319203	2	2	424	1	0	0	0	0	0	0	0	1	31	1664	58	5		5	ABCA13	7	48319203	Silent	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	4168095	48319203	110819460	74	83693											
UPK3B	80761	broad.mit.edu	37	chr7	76142444	76142444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggggctcacccagggctGagaccaagtggtcagacccc	9	4	13	15	0	2	2	2	1	0	2	2	3	2	2	5	4	0	2	5	4	1	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:76142444G>A	ENST00000443097.2	+	4	730	c.505G>A	c.(505-507)Gag>Aag	p.E169K	UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000334348.3_Missense_Mutation_p.E169K|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000448265.3_Intron|UPK3B_ENST00000257632.5_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B	0					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				ACCCAGGGCTGAGACCAAGTG	0.657													5	20					0	0	0	0	A	76142444	G	A	76142444	3	1	424	1	0	0	0	0	1	0	0	0	17107	1291	45	2	680	2	UPK3B	7	76142444	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	27823241	76142444	82996219	75	83694											
AP4M1	9179	broad.mit.edu	37	chr7	99700568	99700568	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggctctggtatacgaactCctggatgaagtgctggtgag	8	11	15	7	1	1	2	0	2	1	0	2	4	2	3	1	4	3	3	1	4	4	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:99700568C>G	ENST00000429084.1	+	4	515	c.357C>G	c.(355-357)ctC>ctG	p.L119L	AP4M1_ENST00000422582.1_5'UTR|AP4M1_ENST00000421755.1_Silent_p.L112L|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000359593.4_Silent_p.L112L			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	112					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATACGAACTCCTGGATGAAG	0.552													17	31					0	0	0	0	G	99700568	C	G	99700568	2	3	424	1	0	0	0	0	0	0	0	1	754	842	30	2		2	AP4M1	7	99700568	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	23558124	99700568	59438095	76	83695											
ZAN	7455	broad.mit.edu	37	chr7	100345610	100345611	+	RNA	INS	-	-	AA																															ggcaatagagcaagactctgINSaaaaaaaaaaaaaaagaaag																								rs71686325		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:100345610_100345611insAA	ENST00000542585.1	+	0	1171				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505													3	3	---	---	---	---					AA	100345611	-	AA	100345610	6	5	424	0	1	1	1	0	0	0	0	0	17609	1305	45	0		0	ZAN	7	100345610	RNA	INS	-	TCGA-HD-A4C1-01A-11D-A24D-08	645042	100345610	58793053	77	83696											
RELN	5649	broad.mit.edu	37	chr7	103130247	103130247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagtatccgtgcccgctGcagagcttggggcaagcctc	6	8	14	13	2	0	1	0	0	0	1	2	1	1	1	3	2	5	6	3	2	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:103130247G>A	ENST00000428762.1	-	60	9864	c.9705C>T	c.(9703-9705)tgC>tgT	p.C3235C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.C3235C|RELN_ENST00000424685.2_Silent_p.C3235C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3235	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGTGCCCGCTGCAGAGCTTGG	0.552													16	28					0	0	0	0	A	103130247	G	A	103130247	2	1	424	1	0	0	0	0	0	0	0	1	13302	1311	46	4		4	RELN	7	103130247	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2784637	103130247	56008416	78	83697											
LRRN3	54674	broad.mit.edu	37	chr7	110763162	110763162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtcaccaatattaatGtaaaaaagatgcctcagctc	15	11	5	10	0	3	1	3	0	0	1	4	1	3	1	2	0	2	2	2	0	6	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:110763162G>A	ENST00000451085.1	+	4	1380	c.334G>A	c.(334-336)Gta>Ata	p.V112I	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V112I|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.V112I|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	112						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAATATTAATGTAAAAAAGAT	0.358													8	39					0	0	0	0	A	110763162	G	A	110763162	3	1	424	1	0	0	0	0	1	0	0	0	9100	1377	48	4	336	4	LRRN3	7	110763162	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	7632915	110763162	48375501	79	83698											
HYAL4	23553	broad.mit.edu	37	chr7	123508442	123508442	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcttgtctaaaacctgctCgacttccaatttatcaaagg	11	14	5	11	1	3	0	1	0	2	0	6	1	4	0	2	1	2	1	2	1	5	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:123508442C>T	ENST00000223026.4	+	3	753	c.115C>T	c.(115-117)Cga>Tga	p.R39*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.R39*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	39					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAACCTGCTCGACTTCCAAT	0.323													12	38					0	0	0	0	T	123508442	C	T	123508442	4	4	424	1	0	0	0	0	0	1	0	0	7519	876	31	1	117	1	HYAL4	7	123508442	Nonsense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	12745280	123508442	35630221	80	83699											
FLNC	2318	broad.mit.edu	37	chr7	128478705	128478705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtggacccacagggccGgcgggacacagtggaggtgg	8	4	19	10	3	0	0	0	0	0	0	1	4	0	3	2	7	0	0	2	7	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:128478705G>A	ENST00000325888.8	+	8	1520	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R420Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	420					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCACAGGGCCGGCGGGACACA	0.647													50	114					0	0	0	0	A	128478705	G	A	128478705	3	1	424	1	0	0	0	0	1	0	0	0	5980	1116	39	1	1289	1	FLNC	7	128478705	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	4970263	128478705	30659958	81	83700											
ZNF425	155054	broad.mit.edu	37	chr7	148802073	148802073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaacggccgctccccgCggtgtagacacaggtgcttc	8	6	13	14	4	0	2	0	0	0	2	2	2	1	2	3	3	3	4	3	3	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:148802073C>T	ENST00000378061.2	-	4	1022	c.890G>A	c.(889-891)cGc>cAc	p.R297H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	297					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCGCTCCCCGCGGTGTAGACA	0.662													9	31					0	0	0	0	T	148802073	C	T	148802073	3	4	424	1	0	0	0	0	1	0	0	0	17994	768	27	1	1372	1	ZNF425	7	148802073	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	20323368	148802073	10336590	82	83701											
RNF32	140545	broad.mit.edu	37	chr7	156451242	156451242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccacagatgccaagttaaGaaaaaaattctttgaaaaaa	20	9	5	7	0	1	3	0	1	1	2	2	3	2	3	2	0	1	1	2	0	8	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:156451242G>A	ENST00000392741.2	+	6	750	c.662G>A	c.(661-663)aGa>aAa	p.R221K	RNF32_ENST00000432459.2_Missense_Mutation_p.R221K|RNF32_ENST00000405335.1_Missense_Mutation_p.R221K|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000343665.4_Missense_Mutation_p.R197K|RNF32_ENST00000317955.5_Missense_Mutation_p.R221K|RNF32_ENST00000311822.8_Missense_Mutation_p.R221K|RNF32_ENST00000392743.2_Missense_Mutation_p.R221K			Q9H0A6	RNF32_HUMAN	ring finger protein 32	221						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCCAAGTTAAGAAAAAAATTC	0.423													10	24					0	0	0	0	A	156451242	G	A	156451242	3	1	424	1	0	0	0	0	1	0	0	0	13573	942	33	2	684	2	RNF32	7	156451242	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	7649169	156451242	2687421	83	83702											
UBE3C	9690	broad.mit.edu	37	chr7	157013389	157013389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcccccgacaggtcactCagctctatgtgccagcatcc	8	9	8	16	1	3	0	2	0	1	0	4	1	4	0	4	1	4	2	4	1	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:157013389C>G	ENST00000348165.5	+	15	2281	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	641					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACAGGTCACTCAGCTCTATGT	0.557													11	35					0	0	0	0	G	157013389	C	G	157013389	3	3	424	1	0	0	0	0	1	0	0	0	16977	827	29	2	1979	2	UBE3C	7	157013389	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	562147	157013389	2125274	84	83703											
FBXO25	26260	broad.mit.edu	37	chr8	381441	381441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagaaatgacacaaatactCaaagtaagatcattctcatt	18	12	4	7	0	3	3	3	1	1	2	4	3	3	3	0	0	1	1	0	0	6	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:381441C>G	ENST00000276326.5	+	3	354	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	FBXO25_ENST00000350302.3_Missense_Mutation_p.Q79E|FBXO25_ENST00000352684.2_Silent_p.L28L|FBXO25_ENST00000382824.1_Silent_p.L28L	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	79	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CACAAATACTCAAAGTAAGAT	0.264													4	6					0	0	0	0	G	381441	C	G	381441	3	3	424	1	0	0	0	0	1	0	0	0	5781	827	29	2	241	2	FBXO25	8	381441	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		381441	145982581	85	83704											
DLC1	10395	broad.mit.edu	37	chr8	12958271	12958271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggctcatcctcgtctgaAtcgtcactctgcaaagacag	11	9	8	13	2	4	2	2	1	2	1	7	2	5	2	1	1	1	2	1	1	3	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:12958271A>T	ENST00000276297.4	-	9	1984	c.1575T>A	c.(1573-1575)gaT>gaA	p.D525E	DLC1_ENST00000358919.2_Missense_Mutation_p.D88E|DLC1_ENST00000512044.2_Missense_Mutation_p.D122E|DLC1_ENST00000520226.1_Missense_Mutation_p.D14E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	525					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCTCGTCTGAATCGTCACTCT	0.527													12	32					0	0	0	0	T	12958271	A	T	12958271	3	4	424	1	0	0	0	0	1	0	0	0	4587	98	4	5	3051	5	DLC1	8	12958271	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	12576830	12958271	133405751	86	83705											
TEX15	56154	broad.mit.edu	37	chr8	30699682	30699682	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatactaaatttattgttAttttccccaggttttacaat	13	18	4	6	0	0	0	0	0	0	0	1	1	1	0	2	1	2	2	2	1	8	10			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:30699682A>G	ENST00000256246.2	-	1	6926	c.6852T>C	c.(6850-6852)aaT>aaC	p.N2284N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2284										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTATTGTTATTTTCCCCAG	0.333													7	17					0	0	0	0	G	30699682	A	G	30699682	2	3	424	1	0	0	0	0	0	0	0	1	15873	446	16	5		5	TEX15	8	30699682	Silent	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	17741411	30699682	115664340	87	83706											
CHRNA6	8973	broad.mit.edu	37	chr8	42611822	42611822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaggaaccaaattttaGggaacagttttgatgatcaa	14	11	9	7	1	1	2	1	2	0	0	2	4	2	4	2	2	2	1	2	2	5	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:42611822G>T	ENST00000276410.2	-	5	875	c.520C>A	c.(520-522)Cta>Ata	p.L174I	CHRNA6_ENST00000534622.1_Missense_Mutation_p.L159I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	174						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCAAATTTTAGGGAACAGTTT	0.368													18	70					1.99824e-07	2.09445e-07	1	0	T	42611822	G	T	42611822	3	4	424	1	0	0	0	0	1	0	0	0	3416	991	35	4	972	4	CHRNA6	8	42611822	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	11912140	42611822	103752200	88	83707											
HGSNAT	138050	broad.mit.edu	37	chr8	43054709	43054709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagattttttggaaaatCtgatggctcccactgagatg	13	12	10	6	0	1	4	0	2	1	3	2	6	2	5	1	2	0	1	1	2	4	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:43054709C>T	ENST00000458501.2	+	18	1989	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	HGSNAT_ENST00000521576.1_Silent_p.I352I|HGSNAT_ENST00000297798.7_Silent_p.I367I|HGSNAT_ENST00000379644.4_Silent_p.I635I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	663					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTGGAAAATCTGATGGCTCC	0.488													3	9					0	0	0	0	T	43054709	C	T	43054709	2	4	424	1	0	0	0	0	0	0	0	1	7138	903	32	2		2	HGSNAT	8	43054709	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	442887	43054709	103309313	89	83708											
RGS20	8601	broad.mit.edu	37	chr8	54792096	54792097	+	Frame_Shift_Ins	INS	-	-	C																															cggggggtcgtccgctgaggINScccccccatccggtagccaa																								rs35570213		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:54792096_54792097insC	ENST00000297313.3	+	2	536_537	c.444_445insC	c.(442-447)agccccfs	p.SP148fs	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	148					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GTCCGCTGAGGCCCCCCCATCC	0.733													2	4	---	---	---	---					C	54792097	-	C	54792096	7	5	424	1	0	1	1	0	0	0	0	0	13386	1194	42	0	450	0	RGS20	8	54792096	Frame_Shift_Ins	INS	-	TCGA-HD-A4C1-01A-11D-A24D-08	11737387	54792096	91571926	90	83709											
OPLAH	26873	broad.mit.edu	37	chr8	145113912	145113912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcgtcccggtgcccgcctctCcacggtgcagcaccacgcgt	4	6	12	19	6	1	0	0	0	1	0	3	0	2	0	5	2	3	2	5	2	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:145113912C>G	ENST00000426825.1	-	4	515	c.434G>C	c.(433-435)gGa>gCa	p.G145A	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	145							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCGCCTCTCCACGGTGCAG	0.677													2	3					0	0	0	0	G	145113912	C	G	145113912	3	3	424	1	0	0	0	0	1	0	0	0	10947	855	30	2	3530	2	OPLAH	8	145113912	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	90321816	145113912	1250110	91	83710											
DOCK8	81704	broad.mit.edu	37	chr9	286491	286491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgaccctgtggagccagtgGactttgaaggacttctgatg	9	11	13	8	0	1	3	0	3	1	0	1	6	1	6	2	3	1	0	2	3	1	2	rs3209441	by1000genomes	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:286491G>A	ENST00000453981.1	+	3	299	c.187G>A	c.(187-189)Gac>Aac	p.D63N	DOCK8_ENST00000469391.1_5'UTR|DOCK8_ENST00000432829.2_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	63					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAGCCAGTGGACTTTGAAGG	0.517													4	42					0	0	0	0	A	286491	G	A	286491	3	1	424	1	0	0	0	0	1	0	0	0	4729	1174	41	2	197	2	DOCK8	9	286491	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		286491	140926940	92	83711											
GLIS3	169792	broad.mit.edu	37	chr9	4286392	4286392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggggttcccgatgtccGgtggagactcatgctgcatg	5	11	15	10	2	1	1	1	0	0	1	3	3	3	1	2	4	2	3	2	4	0	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:4286392G>A	ENST00000381971.3	-	2	627	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCCGATGTCCGGTGGAGACTC	0.552													12	26					0	0	0	0	A	4286392	G	A	4286392	3	1	424	1	0	0	0	0	1	0	0	0	6498	1115	39	1	2798	1	GLIS3	9	4286392	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	3999901	4286392	136927039	93	83712											
GLDC	2731	broad.mit.edu	37	chr9	6592181	6592181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagatccacaacaaatcgtCcagatctttttcattgactg	14	12	5	10	1	2	3	1	1	1	2	5	3	4	3	2	0	1	0	2	0	3	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:6592181C>A	ENST00000321612.6	-	11	1594	c.1444G>T	c.(1444-1446)Gac>Tac	p.D482Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	482					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AACAAATCGTCCAGATCTTTT	0.373													15	44					5.01169e-05	5.17631e-05	1	0	A	6592181	C	A	6592181	3	1	424	1	0	0	0	0	1	0	0	0	6484	855	30	2	1678	2	GLDC	9	6592181	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	2305789	6592181	134621250	94	83713											
GLDC	2731	broad.mit.edu	37	chr9	6606660	6606660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacgagaaatttcctcctCttgttgtgtctgttgaaaag	10	15	8	8	1	3	2	1	1	2	1	5	3	5	2	2	0	1	2	2	0	4	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:6606660C>T	ENST00000321612.6	-	5	795	c.645G>A	c.(643-645)aaG>aaA	p.K215K		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	215					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATTTCCTCCTCTTGTTGTGTC	0.393													17	70					0	0	0	0	T	6606660	C	T	6606660	2	4	424	1	0	0	0	0	0	0	0	1	6484	912	32	2		2	GLDC	9	6606660	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	14479	6606660	134606771	95	83714											
SLC24A2	25769	broad.mit.edu	37	chr9	19619639	19619639	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagatgctattcctcatgaGactgttgtggagggaggcag	10	10	15	6	0	1	2	1	1	0	2	2	6	2	4	1	3	1	3	1	3	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:19619639G>C	ENST00000341998.2	-	3	1082	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L341V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	341					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTCCTCATGAGACTGTTGTGG	0.498													28	83					0	0	0	0	C	19619639	G	C	19619639	3	2	424	1	0	0	0	0	1	0	0	0	14554	942	33	2	996	2	SLC24A2	9	19619639	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	13012979	19619639	121593792	96	83715											
OR2S2	56656	broad.mit.edu	37	chr9	35958092	35958092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaggtctcattggctttttCcatgtgatatcccctctgcc	5	15	9	12	0	2	1	1	1	2	0	5	2	4	2	4	3	1	1	4	3	1	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:35958092C>G	ENST00000341959.2	-	1	59	c.4G>C	c.(4-6)Gaa>Caa	p.E2Q		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGCTTTTTCCATGTGATAT	0.507													4	42					0	0	0	0	G	35958092	C	G	35958092	3	3	424	1	0	0	0	0	1	0	0	0	11086	864	30	2	959	2	OR2S2	9	35958092	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	16338453	35958092	105255339	97	83716											
SPTAN1	6709	broad.mit.edu	37	chr9	131388796	131388796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaatcaaagctttgcgcGaggcccacgacgccttccgc	11	6	10	14	5	1	1	1	0	0	1	2	3	2	1	3	1	2	1	3	1	3	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:131388796G>A	ENST00000358161.5	+	49	6519	c.6406G>A	c.(6406-6408)Gag>Aag	p.E2136K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E2131K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2136K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2131					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCTTTGCGCGAGGCCCACGA	0.577													23	67					0	0	0	0	A	131388796	G	A	131388796	3	1	424	1	0	0	0	0	1	0	0	0	15207	1059	37	1	6596	1	SPTAN1	9	131388796	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	95430704	131388796	9824635	98	83717											
NUP214	8021	broad.mit.edu	37	chr9	134016001	134016001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacagatggtgtgctttgtCcattttatatgattaatcaa	12	16	7	6	0	1	2	1	1	0	1	2	2	2	2	1	1	2	1	1	1	5	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:134016001C>T	ENST00000359428.5	+	11	1342	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.P400S|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.P400S			P35658	NU214_HUMAN	nucleoporin 214kDa	400					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGTGCTTTGTCCATTTTATAT	0.383			T	"DEK, SET, ABL1"	"AML, T-ALL"								32	37					0	0	0	0	T	134016001	C	T	134016001	3	4	424	1	0	0	0	0	1	0	0	0	10833	855	30	2	1240	2	NUP214	9	134016001	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	2627205	134016001	7197430	99	83718											
COL5A1	1289	broad.mit.edu	37	chr9	137622311	137622311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaccgccgacacctccaActcctccaatgtaatttctt	10	10	4	17	2	1	0	0	0	1	0	4	1	4	0	6	0	2	2	6	0	3	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:137622311A>G	ENST00000371817.3	+	7	1568	c.1154A>G	c.(1153-1155)aAc>aGc	p.N385S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	385	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACACCTCCAACTCCTCCAAT	0.602													38	29					0	0	0	0	G	137622311	A	G	137622311	3	3	424	1	0	0	0	0	1	0	0	0	3726	43	2	5	1180	5	COL5A1	9	137622311	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	3606310	137622311	3591120	100	83719											
KIF5B	3799	broad.mit.edu	37	chr10	32321667	32321667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatttgcgtcttcagtttCtctaccagttgactttgctg	7	17	7	10	1	3	1	1	1	2	0	4	1	3	1	1	0	4	3	1	0	2	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:32321667C>T	ENST00000302418.4	-	13	1798	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	447					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCTTCAGTTTCTCTACCAGTT	0.383			T	"RET, ALK"	NSCLC								10	32					0	0	0	0	T	32321667	C	T	32321667	2	4	424	1	0	0	0	0	0	0	0	1	8357	912	32	2		2	KIF5B	10	32321667	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		32321667	103213080	101	83720											
PCDH15	65217	broad.mit.edu	37	chr10	55892742	55892742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatttggtggaagcacttCaatatacacagtgcagatgg	13	12	10	6	0	1	1	1	0	0	1	1	2	1	2	0	3	3	2	0	3	5	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:55892742C>T	ENST00000373965.2	-	16	2225	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.E582K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E609K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E215K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E567K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E582K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E604K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E604K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E611K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E604K|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	604	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAAGCACTTCAATATACACA	0.403										HNSCC(58;0.16)			5	32					0	0	0	0	T	55892742	C	T	55892742	3	4	424	1	0	0	0	0	1	0	0	0	11582	835	29	2	5752	2	PCDH15	10	55892742	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	23571075	55892742	79642005	102	83721											
LRRTM3	347731	broad.mit.edu	37	chr10	68857396	68857396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatacgaccagcccacaAtaagttactgtggggtgcat	11	9	11	10	1	0	0	0	0	0	0	0	1	0	0	2	3	4	3	2	3	4	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:68857396A>G	ENST00000361320.4	+	3	2166	c.1588A>G	c.(1588-1590)Ata>Gta	p.I530V	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	530						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAGCCCACAATAAGTTACTG	0.413													36	64					0	0	0	0	G	68857396	A	G	68857396	3	3	424	1	0	0	0	0	1	0	0	0	9105	101	4	5	1598	5	LRRTM3	10	68857396	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	12964654	68857396	66677351	103	83722											
COL17A1	1308	broad.mit.edu	37	chr10	105799274	105799274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggttgagtccgaaagaactgGaccctggaagccaacaacac	14	5	11	11	1	0	2	0	1	0	1	1	5	1	4	3	3	4	1	3	3	5	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:105799274G>C	ENST00000353479.5	-	43	3115	c.2825C>G	c.(2824-2826)tCc>tGc	p.S942C	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	942	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAGAACTGGACCCTGGAAG	0.602													23	50					0	0	0	0	C	105799274	G	C	105799274	3	2	424	1	0	0	0	0	1	0	0	0	3704	1174	41	2	1724	2	COL17A1	10	105799274	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	36941878	105799274	29735473	104	83723											
FAM53B	9679	broad.mit.edu	37	chr10	126311885	126311885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttcccaggggccccgcggtCccgccaggctgcagccggct	3	5	15	18	4	0	0	0	0	0	0	2	0	2	0	6	5	2	4	6	5	0	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:126311885C>T	ENST00000337318.3	-	5	1406	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.D399N	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	399										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCCCCGCGGTCCCGCCAGGCT	0.677													19	44					0	0	0	0	T	126311885	C	T	126311885	3	4	424	1	0	0	0	0	1	0	0	0	5627	855	30	2	77	2	FAM53B	10	126311885	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	20512611	126311885	9222862	105	83724											
C10orf137	26098	broad.mit.edu	37	chr10	127422700	127422700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaacactatggaactattaGaacattgcttcttaattgtc	14	14	6	7	0	1	1	0	0	1	1	2	3	1	2	0	1	4	1	0	1	7	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:127422700G>C	ENST00000337623.3	+	11	1448	c.1343G>C	c.(1342-1344)aGa>aCa	p.R448T	C10orf137_ENST00000356792.4_Missense_Mutation_p.R482T	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAACTATTAGAACATTGCTT	0.308													5	34					0	0	0	0	C	127422700	G	C	127422700	3	2	424	1	0	0	0	0	1	0	0	0	1604	942	33	2	1385	2	C10orf137	10	127422700	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1110815	127422700	8112047	106	83725											
HRAS	3265	broad.mit.edu	37	chr11	534288	534288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcactcttgcccacaccgCcggcgcccaccaccaccagc	7	3	8	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894230		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			17	22					0	0	0	0	T	534288	C	T	534288	3	4	424	1	0	0	0	0	1	0	0	0	7398	739	26	4	617	4	HRAS	11	534288	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		534288	134472228	107	83726											
DEAF1	10522	broad.mit.edu	37	chr11	691516	691516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccagaacatgtcctgaGatggatgccgcgttcgccac	9	9	10	13	3	0	2	0	1	0	2	2	4	1	3	4	1	3	1	4	1	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:691516G>C	ENST00000382409.3	-	2	856	c.372C>G	c.(370-372)atC>atG	p.I124M	DEAF1_ENST00000338675.6_Missense_Mutation_p.I124M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	124					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CATGTCCTGAGATGGATGCCG	0.647													23	25					0	0	0	0	C	691516	G	C	691516	3	2	424	1	0	0	0	0	1	0	0	0	4412	932	33	2	1369	2	DEAF1	11	691516	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	157228	691516	134315000	108	83727											
POLR2L	5441	broad.mit.edu	37	chr11	840380	840380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttccagcgtggtcacttctCcaggggtgcataattgagca	8	11	12	10	1	2	1	1	1	1	0	4	1	3	1	2	3	3	3	2	3	1	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:840380C>G	ENST00000322028.4	-	2	232	c.196G>C	c.(196-198)Gag>Cag	p.E66Q		NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	66					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|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|zinc ion binding			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCACTTCTCCAGGGGTGCA	0.652													76	64					0	0	0	0	G	840380	C	G	840380	3	3	424	1	0	0	0	0	1	0	0	0	12299	864	30	2	11	2	POLR2L	11	840380	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	148864	840380	134166136	109	83728											
OR56A4	120793	broad.mit.edu	37	chr11	6023761	6023761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaagagaaacaaaggcattCcgggctataacaaagaccac	18	4	10	9	1	0	2	0	0	0	2	1	4	1	3	2	3	2	2	2	3	6	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:6023761C>T	ENST00000330728.4	-	1	663	c.618G>A	c.(616-618)cgG>cgA	p.R206R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGGCATTCCGGGCTATAA	0.488													19	16					0	0	0	0	T	6023761	C	T	6023761	2	4	424	1	0	0	0	0	0	0	0	1	11206	842	30	2		2	OR56A4	11	6023761	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	5183381	6023761	128982755	110	83729											
CTNND1	1500	broad.mit.edu	37	chr11	57564299	57564299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccaaccccaggttcGggtaggtgggagcagcgtgg	6	6	18	11	2	0	0	0	0	0	0	1	1	0	1	4	6	3	3	4	6	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:57564299G>A	ENST00000524630.1	+	6	1304	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	CTNND1_ENST00000526938.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000361391.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000361332.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000426142.2_Missense_Mutation_p.R163Q|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000530094.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.R264Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R163Q|CTNND1_ENST00000529919.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000529873.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000399050.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R163Q			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	264					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCCCAGGTTCGGGTAGGTGGG	0.577													54	157					0	0	0	0	A	57564299	G	A	57564299	3	1	424	1	0	0	0	0	1	0	0	0	4051	1116	39	1	805	1	CTNND1	11	57564299	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	51540538	57564299	77442217	111	83730											
TMEM132A	54972	broad.mit.edu	37	chr11	60703846	60703846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagcatgtcactgagctaGagctgggcatgtacgccctg	8	9	12	12	1	2	2	2	1	0	1	2	2	2	2	1	1	4	5	1	1	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:60703846G>C	ENST00000005286.4	+	11	2695	c.2542G>C	c.(2542-2544)Gag>Cag	p.E848Q	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E847Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	847	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGAGCTAGAGCTGGGCAT	0.597													62	116					0	0	0	0	C	60703846	G	C	60703846	3	2	424	1	0	0	0	0	1	0	0	0	16139	943	33	2	2584	2	TMEM132A	11	60703846	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	3139547	60703846	74302670	112	83731											
AHNAK	79026	broad.mit.edu	37	chr11	62291338	62291338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccggaccttccacattGagatctgggccctcaatgtt	7	11	8	15	1	2	1	1	1	1	1	4	3	4	2	5	2	0	1	5	2	1	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:62291338G>A	ENST00000378024.4	-	5	10825	c.10551C>T	c.(10549-10551)ctC>ctT	p.L3517L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3517					nervous system development	nucleus	protein binding			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)				CTTCCACATTGAGATCTGGGC	0.473													31	107					0	0	0	0	A	62291338	G	A	62291338	2	1	424	1	0	0	0	0	0	0	0	1	414	1277	45	2		2	AHNAK	11	62291338	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1587492	62291338	72715178	113	83732											
FOSL1	8061	broad.mit.edu	37	chr11	65660543	65660543	+	Frame_Shift_Del	DEL	A	A	-																															gtgtgcagtgcctcaggttcAagcacaggccctggggaaag																										TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:65660543delA	ENST00000312562.2	-	4	816	c.630delT	c.(628-630)ctfs	p.L210fs	FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Frame_Shift_Del_p.L174fs|FOSL1_ENST00000448083.2_Frame_Shift_Del_p.L108fs	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	210					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CCTCAGGTTCAAGCACAGGCC	0.627													11	34	---	---	---	---					-	65660543	A	-	65660543	7	5	424	1	0	1	0	1	0	0	0	0	6032	117	5	0	189	0	FOSL1	11	65660543	Frame_Shift_Del	DEL	A	TCGA-HD-A4C1-01A-11D-A24D-08	3369205	65660543	69345973	114	83733											
RIN1	9610	broad.mit.edu	37	chr11	66101086	66101086	+	Frame_Shift_Del	DEL	G	G	-																															aggtcacagtgggccaagacGaggctcagcagaggcaggaa																										TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:66101086delG	ENST00000311320.4	-	8	1761	c.1635delC	c.(1633-1635)ctfs	p.L545fs	RIN1_ENST00000424433.2_Frame_Shift_Del_p.L440fs|RIN1_ENST00000530056.1_Frame_Shift_Del_p.L379fs	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	545	Ras and 14-3-3 protein binding region.|VPS9.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGGCCAAGACGAGGCTCAGCA	0.627													17	34	---	---	---	---					-	66101086	G	-	66101086	7	5	424	1	0	1	0	1	0	0	0	0	13456	1045	37	0	728	0	RIN1	11	66101086	Frame_Shift_Del	DEL	G	TCGA-HD-A4C1-01A-11D-A24D-08	440543	66101086	68905430	115	83734											
SPTBN2	6712	broad.mit.edu	37	chr11	66466933	66466933	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgtggatgttgccttcAgataccagctggcggccagc	6	9	14	12	3	1	1	1	0	0	1	2	2	1	2	3	4	4	2	3	4	1	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:66466933A>T	ENST00000533211.1	-	18	4051	c.3720T>A	c.(3718-3720)tcT>tcA	p.S1240S	SPTBN2_ENST00000309996.2_Silent_p.S1240S|SPTBN2_ENST00000529997.1_Silent_p.S1240S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1240					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGTTGCCTTCAGATACCAGCT	0.552													31	74					0	0	0	0	T	66466933	A	T	66466933	2	4	424	1	0	0	0	0	0	0	0	1	15210	175	7	5		5	SPTBN2	11	66466933	Silent	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	365847	66466933	68539583	116	83735											
ATM	472	broad.mit.edu	37	chr11	108198394	108198394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcccagcctaaaacttaCatacacagaatgtctgaggg	15	8	7	11	0	1	2	0	1	1	1	2	2	2	2	2	1	4	0	2	1	6	3	rs150503164		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:108198394C>T	ENST00000278616.4	+	48	7383	c.6998C>T	c.(6997-6999)aCa>aTa	p.T2333I	ATM_ENST00000452508.2_Missense_Mutation_p.T2333I|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2333	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTAAAACTTACATACACAGAA	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			11	23					0	0	0	0	T	108198394	C	T	108198394	3	4	424	1	0	0	0	0	1	0	0	0	1113	478	17	4	7184	4	ATM	11	108198394	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	41731461	108198394	26808122	117	83736											
CADM1	23705	broad.mit.edu	37	chr11	115088674	115088674	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcccgggttaagccttgTagaggataagtcatctgaat	10	12	10	9	1	2	2	1	1	1	1	3	3	3	3	3	2	1	2	3	2	4	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:115088674T>C	ENST00000542447.2	-	6	887	c.759A>G	c.(757-759)ctA>ctG	p.L253L	CADM1_ENST00000452722.2_Silent_p.L253L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.L253L|CADM1_ENST00000331581.6_Silent_p.L253L|CADM1_ENST00000537058.1_Silent_p.L253L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	253	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TTAAGCCTTGTAGAGGATAAG	0.458													14	37					0	0	0	0	C	115088674	T	C	115088674	2	2	424	1	0	0	0	0	0	0	0	1	2591	1625	57	5		5	CADM1	11	115088674	Silent	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	6890280	115088674	19917842	118	83737											
TREH	11181	broad.mit.edu	37	chr11	118530540	118530540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggttggatgggtaaaaCtcccggtttttcttcttctt	6	17	11	7	1	3	1	0	1	3	0	4	2	4	2	1	4	1	3	1	4	2	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:118530540C>G	ENST00000529101.1	-	11	1281	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	TREH_ENST00000530256.1_Missense_Mutation_p.E289D|TREH_ENST00000525958.1_Missense_Mutation_p.E381D|TREH_ENST00000397925.1_Missense_Mutation_p.E381D|TREH_ENST00000264029.4_Missense_Mutation_p.E412D			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	412					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		ATGGGTAAAACTCCCGGTTTT	0.587											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	1					0	0	0	0	G	118530540	C	G	118530540	3	3	424	1	0	0	0	0	1	0	0	0	16564	564	20	4	534	4	TREH	11	118530540	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	3441866	118530540	16475976	119	83738											
ABCG4	64137	broad.mit.edu	37	chr11	119020798	119020798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcacctgaagaaggtggaGaaccacatcactgaagccca	15	4	10	12	1	1	4	1	2	0	2	1	5	1	4	3	2	2	1	3	2	4	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:119020798G>A	ENST00000307417.3	+	2	487	c.123G>A	c.(121-123)gaG>gaA	p.E41E	ABCG4_ENST00000449422.2_Silent_p.E41E|ABCG4_ENST00000531739.1_Silent_p.E41E	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	41					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGAAGGTGGAGAACCACATCA	0.662													16	45					0	0	0	0	A	119020798	G	A	119020798	2	1	424	1	0	0	0	0	0	0	0	1	70	933	33	2		2	ABCG4	11	119020798	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	490258	119020798	15985718	120	83739											
C11orf63	79864	broad.mit.edu	37	chr11	122774693	122774693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacccgaactggaagagtaaGaaggaggaagggcagctgct	14	4	16	7	1	0	2	0	0	0	2	0	7	0	5	1	4	3	4	1	4	5	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:122774693G>C	ENST00000227349.2	+	3	702	c.405G>C	c.(403-405)aaG>aaC	p.K135N	C11orf63_ENST00000307257.6_Missense_Mutation_p.K135N|C11orf63_ENST00000531316.1_Missense_Mutation_p.K135N	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	135										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAAGAGTAAGAAGGAGGAAG	0.507													54	140					0	0	0	0	C	122774693	G	C	122774693	3	2	424	1	0	0	0	0	1	0	0	0	1665	933	33	2	411	2	C11orf63	11	122774693	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	3753895	122774693	12231823	121	83740											
PKNOX2	63876	broad.mit.edu	37	chr11	125300029	125300029	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcggtgccccagggacaaAccccgatggtaagaactggg	10	4	16	11	2	0	1	0	0	0	1	0	3	0	2	4	5	3	1	4	5	3	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:125300029A>T	ENST00000298282.9	+	12	1455	c.1184A>T	c.(1183-1185)aAc>aTc	p.N395I	PKNOX2_ENST00000542175.1_Missense_Mutation_p.N331I|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	395						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGGGACAAACCCCGATGGT	0.607													22	52					0	0	0	0	T	125300029	A	T	125300029	3	4	424	1	0	0	0	0	1	0	0	0	12055	43	2	5	1218	5	PKNOX2	11	125300029	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	2525336	125300029	9706487	122	83741											
CLEC4D	338339	broad.mit.edu	37	chr12	8672930	8672930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagacgccatttaacccaCgcagagtgtaagtatattga	14	9	8	10	2	0	3	0	1	0	2	0	3	0	3	3	0	1	3	3	0	4	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:8672930C>T	ENST00000299665.2	+	5	686	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	165	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					ATTTAACCCACGCAGAGTGTA	0.418													11	38					0	0	0	0	T	8672930	C	T	8672930	3	4	424	1	0	0	0	0	1	0	0	0	3544	536	19	1	511	1	CLEC4D	12	8672930	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		8672930	125178965	123	83742											
GRIN2B	2904	broad.mit.edu	37	chr12	13764668	13764668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccttacctctgccatCagcgaggcacctgttataac	8	9	9	15	2	2	0	1	0	1	0	2	1	2	0	5	2	4	2	5	2	3	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:13764668C>A	ENST00000279593.3	-	8	1980	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	591					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCTGCCATCAGCGAGGCAC	0.488													32	46					1.39806e-14	1.48741e-14	1	0	A	13764668	C	A	13764668	3	1	424	1	0	0	0	0	1	0	0	0	6830	826	29	2	2707	2	GRIN2B	12	13764668	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	5091738	13764668	120087227	124	83743											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436279	19436279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccagattatggcccgctAccctgaaggttatagaacac	12	8	9	12	1	0	3	0	1	0	2	0	3	0	3	3	2	3	2	3	2	6	4	rs142101396		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:19436279A>G	ENST00000538714.1	+	11	1365	c.1361A>G	c.(1360-1362)tAc>tGc	p.Y454C	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y346C|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y346C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y460C|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y212C|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Y454C	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	454							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGGCCCGCTACCCTGAAGGT	0.393													20	40					0	0	0	0	G	19436279	A	G	19436279	3	3	424	1	0	0	0	0	1	0	0	0	12131	391	14	5	1403	5	PLEKHA5	12	19436279	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	5671611	19436279	114415616	125	83744											
SLCO1B3	28234	broad.mit.edu	37	chr12	21015749	21015749	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttgcactgggatctctgTttgctaaaatgtacgtggat	8	15	11	7	1	1	0	0	0	1	0	2	2	1	2	0	2	3	5	0	2	3	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:21015749T>C	ENST00000381545.3	+	8	907	c.688T>C	c.(688-690)Ttt>Ctt	p.F230L	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.F230L|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F230L|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F230L|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	230					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGGATCTCTGTTTGCTAAAAT	0.358													9	32					0	0	0	0	C	21015749	T	C	21015749	3	2	424	1	0	0	0	0	1	0	0	0	14812	1725	60	5	710	5	SLCO1B3	12	21015749	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	1579470	21015749	112836146	126	83745											
SLC2A13	114134	broad.mit.edu	37	chr12	40441950	40441950	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtattaatggtgactaatcGgcctcttaaattgggtggtg	9	14	13	5	1	1	1	0	1	1	0	2	1	1	1	1	5	0	1	1	5	5	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:40441950G>A	ENST00000280871.4	-	2	669	c.619C>T	c.(619-621)Cga>Tga	p.R207*	SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.R207*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	207						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTGACTAATCGGCCTCTTAAA	0.428										HNSCC(50;0.14)			25	76					0	0	0	0	A	40441950	G	A	40441950	4	1	424	1	0	0	0	0	0	1	0	0	14630	1124	39	1	1363	1	SLC2A13	12	40441950	Nonsense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	19426201	40441950	93409945	127	83746											
TARBP2	6895	broad.mit.edu	37	chr12	53895898	53895898	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgcctgtgtacgaccttctCaaagccgagggccaagccca	10	6	10	15	3	1	0	1	0	1	0	2	2	1	0	5	1	3	1	5	1	3	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:53895898C>G	ENST00000266987.2	+	2	636	c.153C>G	c.(151-153)ctC>ctG	p.L51L	TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000456234.2_Silent_p.L30L|TARBP2_ENST00000394357.2_Silent_p.L30L|TARBP2_ENST00000552857.1_Intron	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	51	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						ACGACCTTCTCAAAGCCGAGG	0.602													13	38					0	0	0	0	G	53895898	C	G	53895898	2	3	424	1	0	0	0	0	0	0	0	1	15647	813	29	2		2	TARBP2	12	53895898	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	13453948	53895898	79955997	128	83747											
ESYT1	23344	broad.mit.edu	37	chr12	56525335	56525335	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggggctgtgtcaatgttCttcatccgacgcccggtaag	6	11	14	10	3	3	0	2	0	1	0	4	1	4	0	2	3	0	3	2	3	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56525335C>T	ENST00000394048.5	+	6	1053	c.789C>T	c.(787-789)ttC>ttT	p.F263F	ESYT1_ENST00000541590.1_Silent_p.F263F|ESYT1_ENST00000267113.4_Silent_p.F263F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	263						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGTCAATGTTCTTCATCCGAC	0.537													50	106					0	0	0	0	T	56525335	C	T	56525335	2	4	424	1	0	0	0	0	0	0	0	1	5302	912	32	2		2	ESYT1	12	56525335	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	2629437	56525335	77326560	129	83748											
PAN2	9924	broad.mit.edu	37	chr12	56716227	56716227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttatcaataggttcaataaGaaagtcattgaacagatacc	17	11	6	7	0	3	3	3	1	0	2	3	3	3	3	1	1	2	1	1	1	8	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716227G>A	ENST00000425394.2	-	19	3065	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	PAN2_ENST00000548043.1_Missense_Mutation_p.L897F|PAN2_ENST00000440411.3_Missense_Mutation_p.L893F|PAN2_ENST00000257931.5_Missense_Mutation_p.L896F	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	897					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			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						GGTTCAATAAGAAAGTCATTG	0.408													13	41					0	0	0	0	A	56716227	G	A	56716227	3	1	424	1	0	0	0	0	1	0	0	0	11485	942	33	2	951	2	PAN2	12	56716227	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	190892	56716227	77135668	130	83749			1	122		4	4	704	N	GA_G	2.609578e-08
PAN2	9924	broad.mit.edu	37	chr12	56716463	56716463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggctgccccctgtgcgtGagtccaggatgtgtaccaca	7	8	12	14	1	0	1	0	1	0	0	1	2	1	2	5	2	3	2	5	2	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716463G>A	ENST00000425394.2	-	18	2961	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	PAN2_ENST00000548043.1_Missense_Mutation_p.S862L|PAN2_ENST00000440411.3_Missense_Mutation_p.S858L|PAN2_ENST00000257931.5_Missense_Mutation_p.S861L	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	862					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			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						CCCTGTGCGTGAGTCCAGGAT	0.602													33	53					0	0	0	0	A	56716463	G	A	56716463	3	1	424	1	0	0	0	0	1	0	0	0	11485	1294	45	2	1059	2	PAN2	12	56716463	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	236	56716463	77135432	131	83750			1	122		4	4	704	N	GA_G	2.609578e-08
PAN2	9924	broad.mit.edu	37	chr12	56716916	56716917	+	Frame_Shift_Del	DEL	GA	GA	-																															tggtcatcttcatgcgaatgGagaaaggaagccagacgttc																										TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716916_56716917delGA	ENST00000425394.2	-	17	2810_2811	c.2434_2435delTC	c.(2434-2436)cfs	p.S812fs	PAN2_ENST00000548043.1_Frame_Shift_Del_p.S812fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.S808fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.S811fs	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	812					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			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						CATGCGAATGGAGAAAGGAAGC	0.48													27	99	---	---	---	---					-	56716917	GA	-	56716916	7	5	424	1	0	1	0	1	0	0	0	0	11485	1174	41	0	1213	0	PAN2	12	56716916	Frame_Shift_Del	DEL	GA	TCGA-HD-A4C1-01A-11D-A24D-08	453	56716916	77134979	132	83751			1	122		4	4	704	N	GA_G	2.609578e-08
PAN2	9924	broad.mit.edu	37	chr12	56716930	56716930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaatggagaaaggaagccaGacgttcttcaactcctcaat	14	8	9	10	2	3	2	2	0	1	2	4	5	4	3	2	2	2	1	2	2	5	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716930G>A	ENST00000425394.2	-	17	2797	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V	PAN2_ENST00000548043.1_Silent_p.V807V|PAN2_ENST00000440411.3_Silent_p.V803V|PAN2_ENST00000257931.5_Silent_p.V806V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	807					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			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						AAGGAAGCCAGACGTTCTTCA	0.473													22	94					0	0	0	0	A	56716930	G	A	56716930	2	1	424	1	0	0	0	0	0	0	0	1	11485	929	33	2		2	PAN2	12	56716930	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	14	56716930	77134965	133	83752			1	122		4	4	704	N	GA_G	2.609578e-08
ATP2B1	490	broad.mit.edu	37	chr12	90003779	90003779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccatcaccagttacagCtacaacctggcgttggtctg	9	11	9	12	1	2	0	1	0	1	0	2	0	2	0	3	2	5	4	3	2	4	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:90003779C>T	ENST00000428670.3	-	15	2833	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	ATP2B1_ENST00000359142.3_Missense_Mutation_p.A793T|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A793T|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A536T|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A793T			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	793					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCAGTTACAGCTACAACCTGG	0.348													18	40					0	0	0	0	T	90003779	C	T	90003779	3	4	424	1	0	0	0	0	1	0	0	0	1143	797	28	4	1471	4	ATP2B1	12	90003779	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	33286849	90003779	43848116	134	83753											
STAB2	55576	broad.mit.edu	37	chr12	104098378	104098378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgacctgcccattcGgaactaaatctctagtaagt	12	10	8	11	1	1	2	0	1	1	1	3	3	1	3	2	1	3	2	2	1	5	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:104098378G>A	ENST00000388887.2	+	36	4090	c.3886G>A	c.(3886-3888)Gga>Aga	p.G1296R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1296					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGCCCATTCGGAACTAAATC	0.368													4	23					0	0	0	0	A	104098378	G	A	104098378	3	1	424	1	0	0	0	0	1	0	0	0	15328	1117	39	1	4028	1	STAB2	12	104098378	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	14094599	104098378	29753517	135	83754											
VPS37B	79720	broad.mit.edu	37	chr12	123380553	123380553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgtcctccagcagctcGttgagctgcaccagcgacag	7	7	10	17	3	0	1	0	1	0	0	4	2	2	1	4	0	5	5	4	0	0	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:123380553G>A	ENST00000267202.2	-	1	438	c.57C>T	c.(55-57)aaC>aaT	p.N19N		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	19					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCAGCAGCTCGTTGAGCTGCA	0.716													23	66					0	0	0	0	A	123380553	G	A	123380553	2	1	424	1	0	0	0	0	0	0	0	1	17302	1136	40	1		1	VPS37B	12	123380553	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	19282175	123380553	10471342	136	83755											
TPTE2	93492	broad.mit.edu	37	chr13	20024301	20024301	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttggtgaaaaccaccatCtcactgatttcaagtttaag	12	13	6	10	0	2	2	2	2	1	0	4	2	3	2	3	1	1	1	3	1	4	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:20024301C>T	ENST00000400230.2	-	13	932	c.888G>A	c.(886-888)gaG>gaA	p.E296E	TPTE2_ENST00000382975.4_Silent_p.E256E|TPTE2_ENST00000255310.6_Silent_p.E219E|TPTE2_ENST00000457266.2_Silent_p.E185E|TPTE2_ENST00000390680.2_Silent_p.E219E|TPTE2_ENST00000400103.2_Silent_p.E185E|TPTE2_ENST00000382978.1_Silent_p.E256E|TPTE2_ENST00000382977.4_Silent_p.E296E			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	296	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCACCATCTCACTGATTT	0.328													9	33					0	0	0	0	T	20024301	C	T	20024301	2	4	424	1	0	0	0	0	0	0	0	1	16526	912	32	2		2	TPTE2	13	20024301	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		20024301	95145577	137	83756											
RFXAP	5994	broad.mit.edu	37	chr13	37401782	37401782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttctttctaagtcGttactaagaagtccagaagt	10	18	6	7	1	3	2	0	0	3	2	5	2	4	2	1	0	1	1	1	0	5	8			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:37401782G>A	ENST00000255476.2	+	3	845	c.711G>A	c.(709-711)tcG>tcA	p.S237S	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	237	C-terminal domain.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		TTTCTAAGTCGTTACTAAGAA	0.323													5	25					0	0	0	0	A	37401782	G	A	37401782	2	1	424	1	0	0	0	0	0	0	0	1	13352	1132	40	1		1	RFXAP	13	37401782	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	17377481	37401782	77768096	138	83757											
PCDH8	5100	broad.mit.edu	37	chr13	53421549	53421549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacgtctcggatgcgcacGatgaccttgcaggtggcagc	7	9	14	11	4	1	2	0	2	1	0	2	4	1	3	1	3	3	3	1	3	0	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:53421549G>A	ENST00000377942.3	-	1	1226	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	PCDH8_ENST00000338862.4_Silent_p.I341I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	341	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGATGCGCACGATGACCTTGC	0.726													5	14					0	0	0	0	A	53421549	G	A	53421549	2	1	424	1	0	0	0	0	0	0	0	1	11588	1048	37	1		1	PCDH8	13	53421549	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	16019767	53421549	61748329	139	83758											
SLAIN1	122060	broad.mit.edu	37	chr13	78320940	78320940	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccagcagcaacagtattAttcacctcaagcccaaactc	14	9	4	14	0	2	0	2	0	0	0	3	0	2	0	3	0	6	3	3	0	6	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:78320940A>T	ENST00000466548.1	+	5	1168	c.1142A>T	c.(1141-1143)tAt>tTt	p.Y381F	SLAIN1_ENST00000418532.1_Missense_Mutation_p.Y162F|SLAIN1_ENST00000488699.1_Missense_Mutation_p.Y239F|SLAIN1_ENST00000358679.3_Missense_Mutation_p.Y118F|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000267219.8_Missense_Mutation_p.Y162F|SLAIN1_ENST00000351546.3_Missense_Mutation_p.Y118F	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	381										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CAACAGTATTATTCACCTCAA	0.408													14	42					0	0	0	0	T	78320940	A	T	78320940	3	4	424	1	0	0	0	0	1	0	0	0	14453	449	16	5	495	5	SLAIN1	13	78320940	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	24899391	78320940	36848938	140	83759											
PCK2	5106	broad.mit.edu	37	chr14	24569206	24569206	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcacttctcctaacaggtCgactccgggccatcaaccct	8	11	6	16	2	3	0	2	0	1	0	6	1	4	0	4	2	2	0	4	2	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:24569206C>T	ENST00000545054.2	+	7	1534	c.616C>T	c.(616-618)Cga>Tga	p.R206*	PCK2_ENST00000559250.1_Nonsense_Mutation_p.R352*|PCK2_ENST00000558096.1_Nonsense_Mutation_p.R206*|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Nonsense_Mutation_p.R340*|PCK2_ENST00000561286.1_Nonsense_Mutation_p.R206*|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R340*			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	340					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTAACAGGTCGACTCCGGGC	0.532													41	118					0	0	0	0	T	24569206	C	T	24569206	4	4	424	1	0	0	0	0	0	1	0	0	11653	876	31	1	1044	1	PCK2	14	24569206	Nonsense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		24569206	82780334	141	83760											
FBXO34	55030	broad.mit.edu	37	chr14	55819051	55819051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggatgtgtccctgtgccGatggcaccccaagccctatt	7	9	12	13	1	0	0	0	0	0	0	1	2	1	1	5	3	2	1	5	3	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:55819051G>A	ENST00000313833.4	+	2	2188	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.R648Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	648										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCCCTGTGCCGATGGCACCCC	0.552													20	80					0	0	0	0	A	55819051	G	A	55819051	3	1	424	1	0	0	0	0	1	0	0	0	5789	1058	37	1	1945	1	FBXO34	14	55819051	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	31249845	55819051	51530489	142	83761											
PCNX	22990	broad.mit.edu	37	chr14	71511998	71511998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtataatcagtatgaagttcGaagtaagtatttcattagca	15	14	8	4	1	2	1	2	1	0	0	3	2	2	1	0	0	1	6	0	0	8	8			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:71511998G>A	ENST00000304743.2	+	20	4462	c.4016G>A	c.(4015-4017)cGa>cAa	p.R1339Q	PCNX_ENST00000238570.5_Missense_Mutation_p.R1339Q|PCNX_ENST00000439984.3_Missense_Mutation_p.R1228Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1339						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TATGAAGTTCGAAGTAAGTAT	0.343													15	49					0	0	0	0	A	71511998	G	A	71511998	3	1	424	1	0	0	0	0	1	0	0	0	11662	1058	37	1	4094	1	PCNX	14	71511998	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	15692947	71511998	35837542	143	83762											
ABCD4	5826	broad.mit.edu	37	chr14	74759535	74759535	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcgatgacaacgtaactCaggatgctgcccagatagtc	12	9	10	10	2	1	2	1	1	0	1	2	4	1	3	1	1	5	2	1	1	3	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:74759535C>G	ENST00000356924.4	-	9	995	c.852G>C	c.(850-852)ctG>ctC	p.L284L	ABCD4_ENST00000298816.7_Silent_p.L180L|ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557588.1_3'UTR	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	284	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CAACGTAACTCAGGATGCTGC	0.537													15	58					0	0	0	0	G	74759535	C	G	74759535	2	3	424	1	0	0	0	0	0	0	0	1	63	813	29	2		2	ABCD4	14	74759535	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	3247537	74759535	32590005	144	83763											
TMEM63C	57156	broad.mit.edu	37	chr14	77715711	77715711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgcacccaccaaactgaacGagcagatccacatggctgcc	12	6	8	15	1	0	2	0	1	0	1	1	3	1	2	4	1	5	3	4	1	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:77715711G>C	ENST00000298351.4	+	21	2092	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	650						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CAAACTGAACGAGCAGATCCA	0.532													21	74					0	0	0	0	C	77715711	G	C	77715711	3	2	424	1	0	0	0	0	1	0	0	0	16286	1059	37	3	2022	3	TMEM63C	14	77715711	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2956176	77715711	29633829	145	83764											
SNW1	22938	broad.mit.edu	37	chr14	78184661	78184661	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaaaaactatgaactacTttgctttcaccagtgtaaac	16	11	6	8	0	1	2	1	1	0	1	1	3	1	2	1	0	5	2	1	0	8	5	rs17825620	by1000genomes	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:78184661T>G	ENST00000555761.1	-	13	1489	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron|SNW1_ENST00000261531.7_Intron|SLIRP_ENST00000557623.1_Intron			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TATGAACTACTTTGCTTTCAC	0.438													5	123					0	0	0	0	G	78184661	T	G	78184661	3	3	424	1	0	0	0	0	1	0	0	0	14967	1624	56	5		5	SNW1	14	78184661	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	468950	78184661	29164879	146	83765											
PRIMA1	145270	broad.mit.edu	37	chr14	94245529	94245529	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccattacttacctggggcGgagaggagtctgggaggtgg	8	8	18	7	1	1	1	0	0	1	1	1	4	1	3	2	7	3	0	2	7	2	2	rs145840548	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:94245529G>C	ENST00000393140.1	-	3	324	c.222C>G	c.(220-222)tcC>tcG	p.S74S	PRIMA1_ENST00000316227.3_Silent_p.S74S|PRIMA1_ENST00000393143.1_Silent_p.S74S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	74					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TACCTggggcggagaggagtc	0.652													4	6					0	0	0	0	C	94245529	G	C	94245529	2	2	424	1	0	0	0	0	0	0	0	1	12572	1103	39	3		3	PRIMA1	14	94245529	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	16060868	94245529	13104011	147	83766											
ATP10A	57194	broad.mit.edu	37	chr15	25947159	25947159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcttgtttgtcaccagtGagaacccaaatctgcaggcc	9	12	9	11	0	3	1	1	1	2	1	3	2	3	1	3	1	2	3	3	1	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:25947159G>A	ENST00000356865.6	-	13	2775	c.2664C>T	c.(2662-2664)ctC>ctT	p.L888L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	888					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTCACCAGTGAGAACCCAAA	0.527													32	73					0	0	0	0	A	25947159	G	A	25947159	2	1	424	1	0	0	0	0	0	0	0	1	1120	1277	45	2		2	ATP10A	15	25947159	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		25947159	76584233	148	83767											
RYR3	6263	broad.mit.edu	37	chr15	34077962	34077962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgagtcaggggcccGgtacacagagatgccccatg	8	5	14	14	2	1	1	1	0	0	1	1	3	1	1	5	4	2	1	5	4	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:34077962G>A	ENST00000389232.4	+	66	9438	c.9368G>A	c.(9367-9369)cGg>cAg	p.R3123Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3123Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3123					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGGGGCCCGGTACACAGAG	0.587													29	87					0	0	0	0	A	34077962	G	A	34077962	3	1	424	1	0	0	0	0	1	0	0	0	13855	1116	39	1	9630	1	RYR3	15	34077962	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	8130803	34077962	68453430	149	83768											
DISP2	85455	broad.mit.edu	37	chr15	40657052	40657052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagggctttgagccacGggacacagacattgggagca	10	6	14	11	1	0	2	0	1	0	1	0	4	0	4	2	3	3	3	2	3	0	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:40657052G>C	ENST00000267889.3	+	5	704	c.617G>C	c.(616-618)cGg>cCg	p.R206P		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	206					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTTGAGCCACGGGACACAGAC	0.572													11	41					0	0	0	0	C	40657052	G	C	40657052	3	2	424	1	0	0	0	0	1	0	0	0	4577	1116	39	3	635	3	DISP2	15	40657052	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	6579090	40657052	61874340	150	83769											
EPB42	2038	broad.mit.edu	37	chr15	43508638	43508638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcctgaaagtcacagctCttgatacccagggctgttgt	8	11	11	11	0	2	2	1	2	1	0	2	2	2	2	2	1	3	4	2	1	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:43508638C>G	ENST00000300215.3	-	2	571	c.114G>C	c.(112-114)aaG>aaC	p.K38N	EPB42_ENST00000441366.2_Missense_Mutation_p.K8N|EPB42_ENST00000540029.1_Missense_Mutation_p.K8N			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	8	Band 3 binding (By similarity).				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGTCACAGCTCTTGATACCCA	0.527													12	37					0	0	0	0	G	43508638	C	G	43508638	3	3	424	1	0	0	0	0	1	0	0	0	5196	912	32	2	2099	2	EPB42	15	43508638	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	2851586	43508638	59022754	151	83770											
GATM	2628	broad.mit.edu	37	chr15	45654339	45654339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtaaggtgcctcggcGccggacatcgcaggtccagc	7	6	15	13	4	0	0	0	0	0	0	3	2	1	2	3	5	2	2	3	5	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:45654339G>A	ENST00000396659.3	-	9	1579	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	414					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GTGCCTCGGCGCCGGACATCG	0.507													12	40					0	0	0	0	A	45654339	G	A	45654339	3	1	424	1	0	0	0	0	1	0	0	0	6312	1087	38	1	35	1	GATM	15	45654339	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2145701	45654339	56877053	152	83771											
UNC13C	440279	broad.mit.edu	37	chr15	54685245	54685245	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgcgtgaacttgtgagcaGagtaagaaacaggatattcc	13	10	12	6	1	0	4	0	2	0	2	1	5	1	5	1	1	4	3	1	1	4	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:54685245G>C	ENST00000545554.1	+	17	4713		c.e17-1		UNC13C_ENST00000260323.11_Splice_Site|UNC13C_ENST00000537900.1_Splice_Site			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTGTGAGCAGAGTAAGAAAC	0.373													11	41					0	0	0	0	C	54685245	G	C	54685245	5	2	424	1	0	0	0	0	0	0	1	0	17082	956	33	2	4775	2	UNC13C	15	54685245	Splice_Site	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	9030906	54685245	47846147	153	83772											
IMP3	55272	broad.mit.edu	37	chr15	75931969	75931969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatccgctaggcttccagatCgaagtcatcgcgctcctcat	8	10	9	14	4	2	1	2	0	0	1	7	3	5	1	3	1	0	3	3	1	2	2	rs141574567		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:75931969C>G	ENST00000314852.2	-	2	1484	c.541G>C	c.(541-543)Gat>Cat	p.D181H	IMP3_ENST00000403490.1_Missense_Mutation_p.D181H			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	181					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						GCTTCCAGATCGAAGTCATCG	0.527													19	51					0	0	0	0	G	75931969	C	G	75931969	3	3	424	1	0	0	0	0	1	0	0	0	7772	884	31	3	17	3	IMP3	15	75931969	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	21246724	75931969	26599423	154	83773											
C1QTNF8	390664	broad.mit.edu	37	chr16	1144797	1144797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacaggtccctgtcactCacccgggcatagggtccagg	7	7	11	16	1	2	0	2	0	0	0	5	0	5	0	4	4	0	1	4	4	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1144797C>T	ENST00000328449.5	-	3	399	c.126G>A	c.(124-126)gtG>gtA	p.V42V		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	42						collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCCTGTCACTCACCCGGGCAT	0.692													8	21					0	0	0	0	T	1144797	C	T	1144797	2	4	424	1	0	0	0	0	0	0	0	1	1988	813	29	2		2	C1QTNF8	16	1144797	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		1144797	89209956	155	83774											
CACNA1H	8912	broad.mit.edu	37	chr16	1261595	1261595	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcaagtacaacttcgacAacctgggccaggtgggctgg	10	6	14	11	2	0	0	0	0	0	0	1	2	0	0	2	4	3	3	2	4	4	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1261595A>C	ENST00000348261.5	+	23	4713	c.4465A>C	c.(4465-4467)Aac>Cac	p.N1489H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.N1489H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.N1489H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1489					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CAACTTCGACAACCTGGGCCA	0.687													7	12					0	0	0	0	C	1261595	A	C	1261595	3	2	424	1	0	0	0	0	1	0	0	0	2570	130	5	5	4551	5	CACNA1H	16	1261595	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	116798	1261595	89093158	156	83775											
SPSB3	90864	broad.mit.edu	37	chr16	1828032	1828032	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccaggtccacatccgaCgtcccgatgcccaccatcta	8	9	7	17	3	1	0	0	0	1	0	5	2	5	0	6	1	1	0	6	1	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1828032C>T	ENST00000566339.1	-	5	840	c.510G>A	c.(508-510)acG>acA	p.T170T	SPSB3_ENST00000301717.4_Silent_p.T170T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	170	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CCACATCCGACGTCCCGATGC	0.667													9	32					0	0	0	0	T	1828032	C	T	1828032	2	4	424	1	0	0	0	0	0	0	0	1	15204	523	19	1		1	SPSB3	16	1828032	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	566437	1828032	88526721	157	83776											
GSG1L	146395	broad.mit.edu	37	chr16	27895933	27895933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagaatgtacagcacctCggagaccacagacagccaca	15	3	9	14	1	0	3	0	0	0	3	1	4	0	3	3	1	4	3	3	1	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:27895933C>T	ENST00000447459.2	-	3	508	c.424G>A	c.(424-426)Gag>Aag	p.E142K	GSG1L_ENST00000380898.2_5'UTR|GSG1L_ENST00000380897.3_5'UTR|GSG1L_ENST00000395724.3_Intron	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	142						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TACAGCACCTCGGAGACCACA	0.577													3	6					0	0	0	0	T	27895933	C	T	27895933	3	4	424	1	0	0	0	0	1	0	0	0	6871	893	31	1	591	1	GSG1L	16	27895933	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	26067901	27895933	62458820	158	83777											
MMP2	4313	broad.mit.edu	37	chr16	55519211	55519211	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccagtgtgtgtttcagAgcatggcgatggatacccct	9	10	12	10	1	1	2	1	0	0	2	1	4	1	3	3	2	2	2	3	2	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:55519211A>G	ENST00000219070.4	+	4	1039	c.529_splice	c.e4-1	p.E177_splice	MMP2_ENST00000543485.1_Splice_Site_p.E101_splice|MMP2_ENST00000437642.2_Splice_Site_p.E127_splice|MMP2_ENST00000570308.1_Splice_Site_p.E101_splice	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	177	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTGTTTCAGAGCATGGCGAT	0.572													23	81					0	0	0	0	G	55519211	A	G	55519211	5	3	424	1	0	0	0	0	0	0	1	0	9727	318	11	5	551	5	MMP2	16	55519211	Splice_Site	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	27623278	55519211	34835542	159	83778											
CNGB1	1258	broad.mit.edu	37	chr16	57938671	57938671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaaagcaaagacgccCgtgaaataattcagcagctg	17	5	10	9	2	1	3	1	1	0	2	1	4	1	3	1	0	3	3	1	0	4	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:57938671C>T	ENST00000564448.1	-	26	2643	c.2583G>A	c.(2581-2583)acG>acA	p.T861T	CNGB1_ENST00000251102.8_Silent_p.T867T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	867					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAAAGACGCCCGTGAAATAAT	0.557													39	80					0	0	0	0	T	57938671	C	T	57938671	2	4	424	1	0	0	0	0	0	0	0	1	3630	639	23	1		1	CNGB1	16	57938671	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	2419460	57938671	32416082	160	83779											
RRAD	6236	broad.mit.edu	37	chr16	66956067	66956067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacgatgcggcccaagaagCgcttcgcctttttgccaagg	8	9	11	13	4	0	1	0	0	0	1	1	2	0	1	3	2	4	1	3	2	4	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:66956067C>T	ENST00000299759.6	-	5	1089	c.839G>A	c.(838-840)cGc>cAc	p.R280H	RRAD_ENST00000420652.1_Missense_Mutation_p.R280H			P55042	RAD_HUMAN	Ras-related associated with diabetes	280	Calmodulin-binding.				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCCCAAGAAGCGCTTCGCCTT	0.622													20	38					0	0	0	0	T	66956067	C	T	66956067	3	4	424	1	0	0	0	0	1	0	0	0	13756	768	27	1	91	1	RRAD	16	66956067	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	9017396	66956067	23398686	161	83780											
C16orf86	388284	broad.mit.edu	37	chr16	67702164	67702164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattgcaaccctgagctgaaCcaggcagggaagggggacgg	11	5	16	9	1	0	2	0	2	0	0	0	4	0	4	2	5	4	3	2	5	4	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:67702164C>T	ENST00000403458.4	+	4	770	c.615C>T	c.(613-615)aaC>aaT	p.N205N		NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	205										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTGAGCTGAACCAGGCAGGGA	0.662											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	16					0	0	0	0	T	67702164	C	T	67702164	2	4	424	1	0	0	0	0	0	0	0	1	1852	506	18	4		4	C16orf86	16	67702164	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	746097	67702164	22652589	162	83781											
ATMIN	23300	broad.mit.edu	37	chr16	81075963	81075963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacggtacagaatgggacctGaaaagacatgcagaggactg	15	6	13	7	1	0	4	0	1	0	3	0	6	0	6	1	3	3	2	1	3	5	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:81075963G>A	ENST00000566488.1	+	2	1035	c.72G>A	c.(70-72)ctG>ctA	p.L24L	ATMIN_ENST00000564241.1_Silent_p.L24L|ATMIN_ENST00000299575.4_Silent_p.L180L|ATMIN_ENST00000539819.1_Intron			O43313	ATMIN_HUMAN	ATM interactor	180	Ala-rich.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGGACCTGAAAAGACATG	0.507													27	62					0	0	0	0	A	81075963	G	A	81075963	2	1	424	1	0	0	0	0	0	0	0	1	1114	1277	45	2		2	ATMIN	16	81075963	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	13373799	81075963	9278790	163	83782											
KLHDC4	54758	broad.mit.edu	37	chr16	87782281	87782281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcatctggcttcttacttGacttgttcccaggtcttggt	4	18	8	11	0	4	1	1	1	4	0	6	1	5	1	1	3	1	2	1	3	1	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:87782281G>A	ENST00000270583.5	-	5	562	c.504C>T	c.(502-504)gtC>gtT	p.V168V	KLHDC4_ENST00000353170.5_Silent_p.V111V|KLHDC4_ENST00000347925.5_Silent_p.V168V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	168										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CTTCTTACTTGACTTGTTCCC	0.557													36	115					0	0	0	0	A	87782281	G	A	87782281	2	1	424	1	0	0	0	0	0	0	0	1	8410	1277	45	2		2	KLHDC4	16	87782281	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	6706318	87782281	2572472	164	83783											
FANCA	2175	broad.mit.edu	37	chr16	89837010	89837010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaggcagccatcaggttCtgacagaaagacgtcagcag	12	6	13	10	1	3	3	2	1	1	2	3	4	3	4	1	3	2	3	1	3	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:89837010C>T	ENST00000389301.3	-	24	2214	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Silent_p.Q728Q	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	728					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCATCAGGTTCTGACAGAAAG	0.652			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	17					0	0	0	0	T	89837010	C	T	89837010	2	4	424	1	0	0	0	0	0	0	0	1	5707	912	32	2		2	FANCA	16	89837010	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	2054729	89837010	517743	165	83784											
MYBBP1A	10514	broad.mit.edu	37	chr17	4446340	4446340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcgttgaagtggtagagGgcggtgggggagtcgggctg	6	7	24	4	3	0	2	0	1	0	1	1	4	0	3	0	7	0	3	0	7	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:4446340G>A	ENST00000254718.4	-	20	3066	c.2760C>T	c.(2758-2760)gcC>gcT	p.A920A	MYBBP1A_ENST00000381556.2_Silent_p.A920A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	920					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGTGGTAGAGGGCGGTGGGGG	0.662													28	90					0	0	0	0	A	4446340	G	A	4446340	2	1	424	1	0	0	0	0	0	0	0	1	10078	1219	43	4		4	MYBBP1A	17	4446340	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		4446340	76748870	166	83785											
DNAH2	146754	broad.mit.edu	37	chr17	7707590	7707590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttgctgggagaaaaaCggcaggagctgctggcccaa	11	5	15	10	1	0	1	0	0	0	1	0	3	0	2	2	5	4	5	2	5	3	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:7707590C>T	ENST00000572933.1	+	59	10449	c.8989C>T	c.(8989-8991)Cgg>Tgg	p.R2997W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2997W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2997	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGAGAAAAACGGCAGGAGCT	0.567													10	23					0	0	0	0	T	7707590	C	T	7707590	3	4	424	1	0	0	0	0	1	0	0	0	4639	527	19	1	9219	1	DNAH2	17	7707590	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	3261250	7707590	73487620	167	83786											
CNTROB	116840	broad.mit.edu	37	chr17	7838386	7838386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccccgctacaccagccttCggccagggcctccactcaat	7	8	7	19	2	1	0	1	0	0	0	4	0	3	0	7	2	2	1	7	2	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:7838386C>T	ENST00000380262.3	+	4	1442	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	CNTROB_ENST00000563694.1_Missense_Mutation_p.R173W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R173W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R173W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	173					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CACCAGCCTTCGGCCAGGGCC	0.567													15	85					0	0	0	0	T	7838386	C	T	7838386	3	4	424	1	0	0	0	0	1	0	0	0	3681	875	31	1	531	1	CNTROB	17	7838386	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	130796	7838386	73356824	168	83787											
GLP2R	9340	broad.mit.edu	37	chr17	9792818	9792818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctcggaaggagatggCgctgagaagcttcggaagct	11	7	15	8	3	1	2	0	1	1	2	3	6	1	4	0	4	3	4	0	4	4	1	rs139614327		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:9792818C>T	ENST00000262441.5	+	13	1971	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G	GLP2R_ENST00000574745.1_Silent_p.G306G	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	486					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AAGGAGATGGCGCTGAGAAGC	0.607													13	53					0	0	0	0	T	9792818	C	T	9792818	2	4	424	1	0	0	0	0	0	0	0	1	6504	755	27	1		1	GLP2R	17	9792818	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	1954432	9792818	71402392	169	83788											
MED1	5469	broad.mit.edu	37	chr17	37563801	37563801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagtctgggctgagccttGagggtctgtctgcagataag	9	11	14	7	0	3	3	0	2	3	1	3	3	3	3	1	2	2	2	1	2	3	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:37563801G>A	ENST00000300651.6	-	17	4896	c.4673C>T	c.(4672-4674)tCa>tTa	p.S1558L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1558					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTGAGCCTTGAGGGTCTGTC	0.448										HNSCC(31;0.082)			18	61					0	0	0	0	A	37563801	G	A	37563801	3	1	424	1	0	0	0	0	1	0	0	0	9494	1294	45	2	76	2	MED1	17	37563801	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	27770983	37563801	43631409	170	83789											
KCNH4	23415	broad.mit.edu	37	chr17	40318343	40318343	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccagcaccatgttgtctcgGagcacctcaagcgagccgga	9	6	12	14	3	2	0	1	0	1	0	3	3	2	2	4	2	4	3	4	2	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:40318343G>C	ENST00000264661.3	-	10	2144	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L	KCNH4_ENST00000607371.1_Silent_p.L604L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	604					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTTGTCTCGGAGCACCTCAA	0.607													5	7					0	0	0	0	C	40318343	G	C	40318343	2	2	424	1	0	0	0	0	0	0	0	1	8087	1161	41	2		2	KCNH4	17	40318343	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2754542	40318343	40876867	171	83790											
SNF8	11267	broad.mit.edu	37	chr17	47007863	47007863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggcttctctggcctcctCagctgtaatctcctgggagt	5	12	12	12	0	3	0	1	0	2	0	6	2	4	1	3	3	1	3	3	3	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:47007863C>G	ENST00000502492.1	-	8	1133	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	SNF8_ENST00000290330.3_Missense_Mutation_p.E250Q|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	251					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						CTGGCCTCCTCAGCTGTAATC	0.592													3	25					0	0	0	0	G	47007863	C	G	47007863	3	3	424	1	0	0	0	0	1	0	0	0	14934	835	29	2	29	2	SNF8	17	47007863	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	6689520	47007863	34187347	172	83791											
NME2	4831	broad.mit.edu	37	chr17	49247332	49247332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacgtggtgaagacaggccGagtgatgcttggggagacca	11	6	17	7	2	0	4	0	2	0	2	0	7	0	4	2	4	2	1	2	4	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:49247332G>A	ENST00000555572.1	+	8	859	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	NME2_ENST00000376392.6_Intron|NME1-NME2_ENST00000512737.1_Missense_Mutation_p.R88Q|NME2_ENST00000393198.2_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000503064.1_Missense_Mutation_p.R88Q|NME2_ENST00000393183.3_Missense_Mutation_p.R13Q|NME1-NME2_ENST00000514264.2_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000513177.1_Missense_Mutation_p.R88Q|NME2_ENST00000393185.1_Missense_Mutation_p.R13Q|NME1-NME2_ENST00000393190.1_Missense_Mutation_p.R88Q|NME2_ENST00000393193.2_Missense_Mutation_p.R203Q					NME/NM23 nucleoside diphosphate kinase 2											endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AAGACAGGCCGAGTGATGCTT	0.527													21	45					0	0	0	0	A	49247332	G	A	49247332	3	1	424	1	0	0	0	0	1	0	0	0	10561	1058	37	1	273	1	NME2	17	49247332	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2239469	49247332	31947878	173	83792											
CACNG4	27092	broad.mit.edu	37	chr17	65026898	65026898	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccaccgaggcctcgccCtccagggacgtgtcgcccat	6	6	12	17	4	0	0	0	0	0	0	4	2	2	1	6	3	0	0	6	3	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:65026898C>G	ENST00000262138.3	+	4	764	c.762C>G	c.(760-762)ccC>ccG	p.P254P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	254					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AGGCCTCGCCCTCCAGGGACG	0.637													22	54					0	0	0	0	G	65026898	C	G	65026898	2	3	424	1	0	0	0	0	0	0	0	1	2584	668	24	4		4	CACNG4	17	65026898	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	15779566	65026898	16168312	174	83793											
KPNA2	3838	broad.mit.edu	37	chr17	66039250	66039250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatcttacctggacactttCtaatctttgccgcaacaaga	12	13	5	11	1	3	1	0	0	3	1	3	2	3	2	2	1	3	1	2	1	5	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:66039250C>G	ENST00000537025.2	+	7	1321	c.701C>G	c.(700-702)tCt>tGt	p.S234C	KPNA2_ENST00000330459.3_Missense_Mutation_p.S234C			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	234	NLS binding site (major) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACACTTTCTAATCTTTGC	0.438													91	218					0	0	0	0	G	66039250	C	G	66039250	3	3	424	1	0	0	0	0	1	0	0	0	8482	913	32	2	723	2	KPNA2	17	66039250	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	1012352	66039250	15155960	175	83794											
RECQL5	9400	broad.mit.edu	37	chr17	73627315	73627315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatccccgctgcctccaGaaccttcgtcatacctaggg	7	10	7	17	2	2	1	2	0	0	1	5	1	4	1	6	1	3	1	6	1	3	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:73627315G>A	ENST00000317905.5	-	10	1622	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	RECQL5_ENST00000423245.2_Missense_Mutation_p.S461F|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	488					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTGCCTCCAGAACCTTCGTC	0.612								Other identified genes with known or suspected DNA repair function					15	57					0	0	0	0	A	73627315	G	A	73627315	3	1	424	1	0	0	0	0	1	0	0	0	13285	942	33	2	1556	2	RECQL5	17	73627315	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	7588065	73627315	7567895	176	83795											
SRP68	6730	broad.mit.edu	37	chr17	74035886	74035886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgggaaagccacatggttGagggccaggtcaaagaacaa	14	5	15	7	0	1	2	1	1	0	1	1	3	1	3	2	5	2	1	2	5	4	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74035886G>A	ENST00000307877.2	-	16	1946	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	SRP68_ENST00000539137.1_Silent_p.L557L|SRP68_ENST00000602720.1_Silent_p.L256L|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Silent_p.L494L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	595					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCACATGGTTGAGGGCCAGGT	0.542													12	32					0	0	0	0	A	74035886	G	A	74035886	2	1	424	1	0	0	0	0	0	0	0	1	15246	1277	45	2		2	SRP68	17	74035886	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	408571	74035886	7159324	177	83796											
SRP68	6730	broad.mit.edu	37	chr17	74035918	74035918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagaacaaaggcttgcaggGaatgggctggaagcctggtg	13	6	16	6	0	0	1	0	0	0	1	0	3	0	3	1	5	3	3	1	5	5	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74035918G>A	ENST00000307877.2	-	16	1914	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	SRP68_ENST00000539137.1_Missense_Mutation_p.P547S|SRP68_ENST00000602720.1_Missense_Mutation_p.P246S|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.P484S	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	585					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GGCTTGCAGGGAATGGGCTGG	0.547													20	33					0	0	0	0	A	74035918	G	A	74035918	3	1	424	1	0	0	0	0	1	0	0	0	15246	1174	41	2	134	2	SRP68	17	74035918	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	32	74035918	7159292	178	83797											
MGAT5B	146664	broad.mit.edu	37	chr17	74921163	74921163	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcggcacatgggactcTccttcaagaagtaccggtga	11	8	12	10	2	2	3	1	2	1	1	3	4	2	4	2	3	2	2	2	3	4	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74921163T>G	ENST00000569840.2	+	9	1715	c.1141T>G	c.(1141-1143)Tcc>Gcc	p.S381A	MGAT5B_ENST00000301618.4_Missense_Mutation_p.S381A|MGAT5B_ENST00000428789.2_Missense_Mutation_p.S392A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	381						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGACTCTCCTTCAAGAA	0.662													19	73					0	0	0	0	G	74921163	T	G	74921163	3	3	424	1	0	0	0	0	1	0	0	0	9618	1551	54	5	1276	5	MGAT5B	17	74921163	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	885245	74921163	6274047	179	83798											
TBCD	6904	broad.mit.edu	37	chr17	80772798	80772798	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcctgttgctgccgtctCgactcgtggatggtgagtag	5	11	16	9	3	1	1	0	1	1	0	3	4	1	2	2	3	2	3	2	3	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:80772798C>T	ENST00000355528.4	+	13	1436	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	TBCD_ENST00000539345.2_Nonsense_Mutation_p.R436*|TBCD_ENST00000397466.2_Nonsense_Mutation_p.R50*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	436					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCTGCCGTCTCGACTCGTGGA	0.627													5	24					0	0	0	0	T	80772798	C	T	80772798	4	4	424	1	0	0	0	0	0	1	0	0	15727	876	31	1	1356	1	TBCD	17	80772798	Nonsense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	5851635	80772798	422412	180	83799											
MYO5B	4645	broad.mit.edu	37	chr18	47369730	47369730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgtaggcggggagacaggGcactgtgcccgacagcatct	9	6	16	10	2	1	1	0	0	1	1	1	4	1	1	1	4	2	3	1	4	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:47369730G>A	ENST00000285039.7	-	34	4791	c.4492C>T	c.(4492-4494)Ccc>Tcc	p.P1498S	MYO5B_ENST00000592688.1_Missense_Mutation_p.P68S|MYO5B_ENST00000324581.6_Missense_Mutation_p.P613S|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1498					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGGAGACAGGGCACTGTGCCC	0.567													19	58					0	0	0	0	A	47369730	G	A	47369730	3	1	424	1	0	0	0	0	1	0	0	0	10149	1203	42	4	1082	4	MYO5B	18	47369730	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		47369730	30707518	181	83800											
ALPK2	115701	broad.mit.edu	37	chr18	56196374	56196374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttgtccagcagatagtaGaatcttcatgaatttctgca	11	15	7	8	0	3	3	1	1	2	2	4	3	4	3	1	0	2	3	1	0	4	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:56196374G>C	ENST00000361673.3	-	6	5663	c.5450C>G	c.(5449-5451)tCt>tGt	p.S1817C		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1817	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCAGATAGTAGAATCTTCATG	0.388													22	51					0	0	0	0	C	56196374	G	C	56196374	3	2	424	1	0	0	0	0	1	0	0	0	545	942	33	2	1094	2	ALPK2	18	56196374	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	8826644	56196374	21880874	182	83801											
KCNG2	26251	broad.mit.edu	37	chr18	77659747	77659747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccaccgaggacagctcGcagggccccgacagcgcggg	9	1	15	16	5	0	0	0	0	0	0	1	3	0	1	4	3	3	2	4	3	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:77659747G>A	ENST00000316249.3	+	2	1332	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	444					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGGACAGCTCGCAGGGCCCCG	0.756													8	22					0	0	0	0	A	77659747	G	A	77659747	2	1	424	1	0	0	0	0	0	0	0	1	8081	1074	38	1		1	KCNG2	18	77659747	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	21463373	77659747	417501	183	83802											
POLRMT	5442	broad.mit.edu	37	chr19	623567	623567	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcactgcagggtcttcaAgggcaggtgcagcttcgggt	7	8	17	9	1	2	0	1	0	1	0	3	1	2	0	0	5	3	5	0	5	1	2	rs150474137		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:623567A>G	ENST00000588649.2	-	6	1261	c.1177T>C	c.(1177-1179)Ttg>Ctg	p.L393L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	393					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		AGGGTCTTCAAGGGCAGGTGC	0.642													4	66					0	0	0	0	G	623567	A	G	623567	2	3	424	1	0	0	0	0	0	0	0	1	12310	69	3	5		5	POLRMT	19	623567	Silent	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08		623567	58505416	184	83803											
SBNO2	22904	broad.mit.edu	37	chr19	1109414	1109420	+	Frame_Shift_Del	DEL	ACCGCGG	ACCGCGG	-																															agcaggcagctgggcttgttAccgcggacctgcggaggggg																										TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:1109414_1109420delACCGCGG	ENST00000361757.3	-	29	3456_3462	c.3219_3225delCCGCGGT	c.(3217-3225)gtfs	p.VRG1073fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.VRG1063fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.VRG1016fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1073					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGGGCTTGTTACCGCGGACCTGCGGAG	0.715													6	1	---	---	---	---					-	1109420	ACCGCGG	-	1109414	7	5	424	1	0	1	0	1	0	0	0	0	13949	378	14	0	891	0	SBNO2	19	1109414	Frame_Shift_Del	DEL	ACCGCGG	TCGA-HD-A4C1-01A-11D-A24D-08	485847	1109414	58019569	185	83804											
SEMA6B	10501	broad.mit.edu	37	chr19	4548120	4548120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcagccagcaggccccccGaagctgcgtccagctccaag	9	3	12	17	2	0	0	0	0	0	0	2	1	2	0	6	2	5	4	6	2	2	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:4548120G>A	ENST00000586582.1	-	14	1830	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	SEMA6B_ENST00000301293.3_Missense_Mutation_p.S507L|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S507L	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	507	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCCCCCCGAAGCTGCGTC	0.687													6	5					0	0	0	0	A	4548120	G	A	4548120	3	1	424	1	0	0	0	0	1	0	0	0	14127	1059	37	1	1162	1	SEMA6B	19	4548120	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	3438706	4548120	54580863	186	83805											
MLLT1	4298	broad.mit.edu	37	chr19	6217980	6217980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaccttggctgtggttctGggatggctcgaagtctgagt	6	12	14	9	1	2	1	0	1	2	0	3	3	2	2	1	4	0	3	1	4	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:6217980G>C	ENST00000252674.7	-	7	1346	c.1183C>G	c.(1183-1185)Cag>Gag	p.Q395E		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	395					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTGTGGTTCTGGGATGGCTCG	0.632			T	MLL	AL								26	27					0	0	0	0	C	6217980	G	C	6217980	3	2	424	1	0	0	0	0	1	0	0	0	9694	1357	47	4	520	4	MLLT1	19	6217980	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1669860	6217980	52911003	187	83806											
SH2D3A	10045	broad.mit.edu	37	chr19	6755042	6755042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttcctcctcatcctcctCggcctcccaccatggggcct	3	11	6	21	1	2	0	1	0	1	0	8	0	7	0	8	3	0	0	8	3	0	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:6755042C>T	ENST00000245908.6	-	5	1050	c.781G>A	c.(781-783)Gag>Aag	p.E261K	SH2D3A_ENST00000437152.3_Missense_Mutation_p.E139K|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	261	Poly-Glu.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCATCCTCCTCGGCCTCCCAC	0.622													181	128					0	0	0	0	T	6755042	C	T	6755042	3	4	424	1	0	0	0	0	1	0	0	0	14320	893	31	1	973	1	SH2D3A	19	6755042	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	537062	6755042	52373941	188	83807											
PRAM1	84106	broad.mit.edu	37	chr19	8563897	8563897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgggaaaggcgctggaGtcgcgcttcggctcgctgga	5	11	16	9	5	0	0	0	0	0	0	3	3	0	3	0	5	0	4	0	5	1	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:8563897G>A	ENST00000423345.4	-	2	1315	c.795C>T	c.(793-795)gaC>gaT	p.D265D	PRAM1_ENST00000255612.3_Silent_p.D265D			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	313	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGGCGCTGGAGTCGCGCTTCG	0.642													26	24					0	0	0	0	A	8563897	G	A	8563897	2	1	424	1	0	0	0	0	0	0	0	1	12499	1020	36	4		4	PRAM1	19	8563897	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1808855	8563897	50565086	189	83808											
OR10H2	26538	broad.mit.edu	37	chr19	15839060	15839060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgtcctctcagtctcCgagatcctctacaccgtggc	5	11	9	16	3	3	1	1	0	3	1	7	2	5	1	4	1	2	0	4	1	1	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:15839060C>T	ENST00000305899.3	+	1	227	c.207C>T	c.(205-207)tcC>tcT	p.S69S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S69S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTCAGTCTCCGAGATCCTCT	0.627													84	110					0	0	0	0	T	15839060	C	T	15839060	2	4	424	1	0	0	0	0	0	0	0	1	10977	639	23	1		1	OR10H2	19	15839060	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	7275163	15839060	43289923	190	83809											
MYO9B	4650	broad.mit.edu	37	chr19	17256215	17256215	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccttgcaggcttttggAaatgccaagacagcccacaa	12	10	8	11	0	0	1	0	0	0	1	1	2	1	2	3	2	3	2	3	2	3	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:17256215A>T	ENST00000595618.1	+	3	1001	c.849A>T	c.(847-849)ggA>ggT	p.G283G	MYO9B_ENST00000397274.2_Silent_p.G283G|MYO9B_ENST00000594824.1_Silent_p.G283G	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	283	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGGCTTTTGGAAATGCCAAGA	0.438													15	56					0	0	0	0	T	17256215	A	T	17256215	2	4	424	1	0	0	0	0	0	0	0	1	10155	233	9	5		5	MYO9B	19	17256215	Silent	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	1417155	17256215	41872768	191	83810											
ZNF676	163223	broad.mit.edu	37	chr19	22362838	22362838	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacattcttcacatttgtAgggtttctctccagtatgaa	9	15	7	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:22362838A>T	ENST00000397121.2	-	3	1998	c.1681T>A	c.(1681-1683)Tac>Aac	p.Y561N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCACATTTGTAGGGTTTCTCT	0.383													12	28					0	0	0	0	T	22362838	A	T	22362838	3	4	424	1	0	0	0	0	1	0	0	0	18178	420	15	5	89	5	ZNF676	19	22362838	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	5106623	22362838	36766145	192	83811											
RYR1	6261	broad.mit.edu	37	chr19	38976759	38976759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaggcggtgcgcgacGgtgggcagcacgctcgcgac	5	4	21	11	7	0	0	0	0	0	0	1	3	0	1	0	6	2	3	0	6	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:38976759G>A	ENST00000355481.4	+	34	5595	c.5464G>A	c.(5464-5466)Ggt>Agt	p.G1822S	RYR1_ENST00000359596.3_Missense_Mutation_p.G1822S|RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1822	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1822C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGCGCGACGGTGGGCAGCA	0.701													31	93					0	0	0	0	A	38976759	G	A	38976759	3	1	424	1	0	0	0	0	1	0	0	0	13853	1116	39	1	5598	1	RYR1	19	38976759	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	16613921	38976759	20152224	193	83812											
PRX	57716	broad.mit.edu	37	chr19	40900809	40900809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctccacctgtggcagggaGatgcccagcggaggcatcct	8	6	14	13	1	0	1	0	0	0	1	2	3	2	2	4	4	3	3	4	4	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:40900809G>A	ENST00000324001.7	-	7	3720	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1150	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGCAGGGAGATGCCCAGCG	0.652													4	68					0	0	0	0	A	40900809	G	A	40900809	2	1	424	1	0	0	0	0	0	0	0	1	12721	932	33	2		2	PRX	19	40900809	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1924050	40900809	18228174	194	83813											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406036	42406036	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctttggtggccctgcaGagctgctggtgacagaggcg	5	9	16	11	1	0	3	0	1	0	2	0	3	0	3	2	4	4	4	2	4	0	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:42406036G>C	ENST00000599846.1	+	16	1560		c.e16-1		ARHGEF1_ENST00000354532.3_Splice_Site|ARHGEF1_ENST00000347545.4_Splice_Site|ARHGEF1_ENST00000378152.4_Splice_Site|ARHGEF1_ENST00000337665.4_Splice_Site			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGCCCTGCAGAGCTGCTGGT	0.617													7	24					0	0	0	0	C	42406036	G	C	42406036	5	2	424	1	0	0	0	0	0	0	1	0	895	956	33	2	1370	2	ARHGEF1	19	42406036	Splice_Site	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1505227	42406036	16722947	195	83814											
ARHGEF1	9138	broad.mit.edu	37	chr19	42408250	42408250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacgtggcgggtgactaagGacaaggcagtgggtgagtgc	9	7	19	6	2	0	3	0	3	0	0	0	4	0	4	0	5	1	1	0	5	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:42408250G>T	ENST00000599846.1	+	22	2274	c.2149G>T	c.(2149-2151)Gac>Tac	p.D717Y	ARHGEF1_ENST00000354532.3_Missense_Mutation_p.D661Y|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.D628Y|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.D643Y|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.D676Y			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	661	PH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGTGACTAAGGACAAGGCAGT	0.647													14	77					2.32078e-09	2.44157e-09	1	0	T	42408250	G	T	42408250	3	4	424	1	0	0	0	0	1	0	0	0	895	1174	41	2	2108	2	ARHGEF1	19	42408250	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2214	42408250	16720733	196	83815											
IRF3	3661	broad.mit.edu	37	chr19	50165479	50165479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actggccatccaggcagcgtCctgtctcccacttcggaccc	6	8	9	18	2	1	0	0	0	1	0	5	1	3	1	5	3	1	1	5	3	0	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165479C>T	ENST00000597198.1	-	6	1089	c.708G>A	c.(706-708)agG>agA	p.R236R	IRF3_ENST00000599144.1_Silent_p.R90R|IRF3_ENST00000598808.1_Silent_p.R90R|IRF3_ENST00000377139.3_Silent_p.R236R|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600911.1_Silent_p.R236R|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Silent_p.R236R|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Silent_p.R236R|IRF3_ENST00000593922.1_Silent_p.R90R|IRF3_ENST00000599223.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	236	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CAGGCAGCGTCCTGTCTCCCA	0.642													12	39					0	0	0	0	T	50165479	C	T	50165479	2	4	424	1	0	0	0	0	0	0	0	1	7884	854	30	2		2	IRF3	19	50165479	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	7757229	50165479	8963504	197	83816			2	123		3	3	229	C		1.527813e-06
IRF3	3661	broad.mit.edu	37	chr19	50165569	50165569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggccccggtagaaggctgtCacctcgaactcccactctga	8	7	10	16	3	2	2	1	1	1	1	4	3	3	2	4	3	1	2	4	3	3	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165569C>T	ENST00000597198.1	-	6	999	c.618G>A	c.(616-618)gtG>gtA	p.V206V	IRF3_ENST00000599144.1_Silent_p.V60V|IRF3_ENST00000598808.1_Silent_p.V60V|IRF3_ENST00000377139.3_Silent_p.V206V|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600911.1_Silent_p.V206V|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Silent_p.V206V|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Silent_p.V206V|IRF3_ENST00000593922.1_Silent_p.V60V|IRF3_ENST00000599223.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	206	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGAAGGCTGTCACCTCGAACT	0.672													11	57					0	0	0	0	T	50165569	C	T	50165569	2	4	424	1	0	0	0	0	0	0	0	1	7884	813	29	2		2	IRF3	19	50165569	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	90	50165569	8963414	198	83817			2	123		3	3	229	C		1.527813e-06
IRF3	3661	broad.mit.edu	37	chr19	50165707	50165707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccggcaccaacagccgcttCagtgggttctcagagggccc	7	6	12	16	2	2	1	2	0	1	1	3	1	2	1	4	3	2	3	4	3	1	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165707C>T	ENST00000597198.1	-	5	957	c.576G>A	c.(574-576)ctG>ctA	p.L192L	IRF3_ENST00000599144.1_Silent_p.L46L|IRF3_ENST00000598808.1_Silent_p.L46L|IRF3_ENST00000377139.3_Silent_p.L192L|IRF3_ENST00000377135.4_Silent_p.L192L|IRF3_ENST00000596822.1_Silent_p.L46L|IRF3_ENST00000600911.1_Silent_p.L192L|IRF3_ENST00000596765.1_Silent_p.L46L|IRF3_ENST00000309877.7_Silent_p.L192L|IRF3_ENST00000600022.1_Silent_p.L46L|IRF3_ENST00000601291.1_Silent_p.L192L|IRF3_ENST00000593922.1_Silent_p.L46L|IRF3_ENST00000599223.1_Silent_p.L192L			Q14653	IRF3_HUMAN	interferon regulatory factor 3	192					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		ACAGCCGCTTCAGTGGGTTCT	0.662													3	11					0	0	0	0	T	50165707	C	T	50165707	2	4	424	1	0	0	0	0	0	0	0	1	7884	813	29	2		2	IRF3	19	50165707	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	138	50165707	8963276	199	83818			2	123		3	3	229	C		1.527813e-06
NLRP13	126204	broad.mit.edu	37	chr19	56423256	56423256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctcctgggactcgtGtaggcagtgaaaaagtcgta	9	11	12	9	2	1	1	0	1	1	0	5	2	3	2	2	2	0	3	2	2	4	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:56423256G>T	ENST00000588751.1	-	5	1951	c.1927C>A	c.(1927-1929)Cac>Aac	p.H643N	NLRP13_ENST00000342929.3_Missense_Mutation_p.H643N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	643							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGGACTCGTGTAGGCAGTGA	0.428													19	63					1.01871e-10	1.07573e-10	1	0	T	56423256	G	T	56423256	3	4	424	1	0	0	0	0	1	0	0	0	10545	1377	48	4	1230	4	NLRP13	19	56423256	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	6257549	56423256	2705727	200	83819											
ZNF582	147948	broad.mit.edu	37	chr19	56896328	56896328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaagggatgcatgctggTcaaaagtgggcatttcttca	12	11	12	6	0	3	0	2	0	1	0	3	1	3	1	0	3	2	4	0	3	4	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:56896328T>C	ENST00000301310.4	-	5	616	c.458A>G	c.(457-459)gAc>gGc	p.D153G	ZNF582_ENST00000586929.1_Missense_Mutation_p.D153G	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGCATGCTGGTCAAAAGTGGG	0.378													20	48					0	0	0	0	C	56896328	T	C	56896328	3	2	424	1	0	0	0	0	1	0	0	0	18109	1667	58	5	1099	5	ZNF582	19	56896328	Missense_Mutation	SNP	T	TCGA-HD-A4C1-01A-11D-A24D-08	473072	56896328	2232655	201	83820											
ZNF773	374928	broad.mit.edu	37	chr19	58018253	58018253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgtaatgctgacctcattCaacaccagagagttcacact	12	9	7	13	1	3	2	3	1	0	1	3	3	3	2	3	0	2	3	3	0	2	3	rs139485854	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:58018253C>G	ENST00000282292.4	+	4	930	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	ZNF773_ENST00000598770.1_Missense_Mutation_p.Q263E|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGACCTCATTCAACACCAGAG	0.418													18	66					0	0	0	0	G	58018253	C	G	58018253	3	3	424	1	0	0	0	0	1	0	0	0	18239	827	29	2	804	2	ZNF773	19	58018253	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	1121925	58018253	1110730	202	83821											
ZSCAN22	342945	broad.mit.edu	37	chr19	58846419	58846419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcagcccgaggcgcactCcaaggagcagatactggagc	10	4	14	13	2	0	1	0	0	0	1	1	4	1	3	2	3	5	4	2	3	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:58846419C>T	ENST00000329665.4	+	2	398	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	84	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GAGGCGCACTCCAAGGAGCAG	0.662													19	34					0	0	0	0	T	58846419	C	T	58846419	3	4	424	1	0	0	0	0	1	0	0	0	18326	855	30	2	253	2	ZSCAN22	19	58846419	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	828166	58846419	282564	203	83822											
HSPA12B	116835	broad.mit.edu	37	chr20	3726235	3726235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttcttcagggagcaCgcccttcaggtgcgctgcgg	4	9	14	14	4	3	0	2	0	1	0	3	1	3	1	1	3	4	3	1	3	0	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:3726235C>T	ENST00000254963.2	+	6	694	c.549C>T	c.(547-549)caC>caT	p.H183H	HSPA12B_ENST00000542646.1_Silent_p.H17H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	183							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TCAGGGAGCACGCCCTTCAGG	0.632													14	30					0	0	0	0	T	3726235	C	T	3726235	2	4	424	1	0	0	0	0	0	0	0	1	7457	535	19	1		1	HSPA12B	20	3726235	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		3726235	59299285	204	83823											
ZNF341	84905	broad.mit.edu	37	chr20	32379270	32379270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagctgcaggctggggccGagggcccatgtgccatgctc	5	6	17	13	2	0	0	0	0	0	0	1	2	0	1	3	5	4	4	3	5	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:32379270G>A	ENST00000375200.1	+	15	2877	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	ZNF341_ENST00000342427.2_Missense_Mutation_p.E831K|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGCTGGGGCCGAGGGCCCATG	0.662													14	23					0	0	0	0	A	32379270	G	A	32379270	3	1	424	1	0	0	0	0	1	0	0	0	17952	1059	37	1	2549	1	ZNF341	20	32379270	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	28653035	32379270	30646250	205	83824											
ZHX3	23051	broad.mit.edu	37	chr20	39830935	39830935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttgacctgctgggagctCatctgggtcttgtcacagag	6	12	13	10	0	4	2	2	1	2	1	4	3	4	3	1	2	3	3	1	2	0	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:39830935C>T	ENST00000309060.3	-	4	3037	c.2622G>A	c.(2620-2622)atG>atA	p.M874I	ZHX3_ENST00000544979.2_Missense_Mutation_p.M874I|ZHX3_ENST00000432768.2_Missense_Mutation_p.M874I|ZHX3_ENST00000540170.1_Missense_Mutation_p.M874I|ZHX3_ENST00000560361.1_Missense_Mutation_p.M874I|ZHX3_ENST00000559234.1_Missense_Mutation_p.M874I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	874					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GCTGGGAGCTCATCTGGGTCT	0.567													59	158					0	0	0	0	T	39830935	C	T	39830935	3	4	424	1	0	0	0	0	1	0	0	0	17772	826	29	2	256	2	ZHX3	20	39830935	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	7451665	39830935	23194585	206	83825											
ZHX3	23051	broad.mit.edu	37	chr20	39831673	39831673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttttgtgcaaaactgctCtccagggctctgagctgctc	6	12	12	11	0	2	1	0	1	2	0	4	1	2	1	1	2	5	6	1	2	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:39831673C>T	ENST00000309060.3	-	4	2299	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	ZHX3_ENST00000544979.2_Silent_p.E628E|ZHX3_ENST00000432768.2_Silent_p.E628E|ZHX3_ENST00000540170.1_Silent_p.E628E|ZHX3_ENST00000560361.1_Silent_p.E628E|ZHX3_ENST00000559234.1_Silent_p.E628E|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	628					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAAAACTGCTCTCCAGGGCTC	0.507													36	77					0	0	0	0	T	39831673	C	T	39831673	2	4	424	1	0	0	0	0	0	0	0	1	17772	912	32	2		2	ZHX3	20	39831673	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	738	39831673	23193847	207	83826											
ARFGEF2	10564	broad.mit.edu	37	chr20	47592669	47592669	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggggacccagacaactgttCaggatgaccctgagcaattt	11	8	11	11	1	1	3	1	2	0	1	1	5	1	5	2	3	2	2	2	3	2	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:47592669C>T	ENST00000371917.4	+	14	1891	c.1891C>T	c.(1891-1893)Cag>Tag	p.Q631*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	631					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACAACTGTTCAGGATGACCC	0.517													9	24					0	0	0	0	T	47592669	C	T	47592669	4	4	424	1	0	0	0	0	0	1	0	0	855	827	29	2	1945	2	ARFGEF2	20	47592669	Nonsense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	7760996	47592669	15432851	208	83827											
TMEM189	387521	broad.mit.edu	37	chr20	48760046	48760046	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcgggcactcaccaacaccGagtatgacgaggggtgtgtc	9	7	13	12	3	1	1	1	1	0	0	3	3	1	1	2	3	1	2	2	3	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:48760046G>C	ENST00000557021.1	-	2	394	c.234C>G	c.(232-234)ctC>ctG	p.L78L	TMEM189-UBE2V1_ENST00000341698.2_Silent_p.L78L|TMEM189_ENST00000371650.5_Silent_p.L78L|TMEM189_ENST00000371652.4_Silent_p.L78L	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			CACCAACACCGAGTATGACGA	0.627													7	7					0	0	0	0	C	48760046	G	C	48760046	2	2	424	1	0	0	0	0	0	0	0	1	16205	1045	37	3		3	TMEM189	20	48760046	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1167377	48760046	14265474	209	83828											
IFNAR2	3455	broad.mit.edu	37	chr21	34617295	34617295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactttcaagatatcattgcGaaatttccggtccatcttat	11	15	5	10	2	3	1	2	0	1	1	5	2	5	1	2	1	1	0	2	1	4	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr21:34617295G>A	ENST00000404220.3	+	4	466	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000382264.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000342101.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000342136.4_Missense_Mutation_p.R46Q			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	46					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ATATCATTGCGAAATTTCCGG	0.368													15	54					0	0	0	0	A	34617295	G	A	34617295	3	1	424	1	0	0	0	0	1	0	0	0	7598	1058	37	1	147	1	IFNAR2	21	34617295	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08		34617295	13512600	210	83829											
SON	6651	broad.mit.edu	37	chr21	34932274	34932274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgatgcaattcactttgtgGaaccaagccacaaagtgaaa	15	9	8	9	1	1	1	1	1	0	0	2	3	1	2	2	1	3	1	2	1	5	2			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr21:34932274G>A	ENST00000300278.4	+	7	6778	c.6749G>A	c.(6748-6750)gGa>gAa	p.G2250E	SON_ENST00000290239.6_Intron|SON_ENST00000356577.4_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000381692.2_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCACTTTGTGGAACCAAGCCA	0.498													10	33					0	0	0	0	A	34932274	G	A	34932274	3	1	424	1	0	0	0	0	1	0	0	0	15014	1174	41	2	6775	2	SON	21	34932274	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	314979	34932274	13197621	211	83830											
C22orf29	79680	broad.mit.edu	37	chr22	19839757	19839757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagatgggaatgcgagggcCctgctgacggcaccggccac	8	4	15	14	3	0	2	0	1	0	1	0	4	0	3	4	4	2	2	4	4	1	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:19839757C>A	ENST00000405640.1	-	2	696	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G10C|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G10C			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	10										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGCGAGGGCCCTGCTGACGG	0.637													35	62					4.14481e-20	4.46e-20	1	0	A	19839757	C	A	19839757	3	1	424	1	0	0	0	0	1	0	0	0	2161	623	22	4	1070	4	C22orf29	22	19839757	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		19839757	31464809	212	83831											
EWSR1	2130	broad.mit.edu	37	chr22	29682945	29682945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccgactagttatgatcaGagcagttactctcagcagaa	13	9	9	10	1	2	3	2	1	1	2	3	4	2	3	1	0	4	4	1	0	4	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:29682945G>A	ENST00000397938.2	+	7	934	c.615G>A	c.(613-615)caG>caA	p.Q205Q	EWSR1_ENST00000331029.7_Silent_p.Q205Q|EWSR1_ENST00000332050.6_Silent_p.Q205Q|EWSR1_ENST00000332035.6_Silent_p.Q149Q|EWSR1_ENST00000406548.1_Silent_p.Q205Q|EWSR1_ENST00000414183.2_Silent_p.Q211Q|EWSR1_ENST00000333395.6_Silent_p.Q205Q	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	205	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTTATGATCAGAGCAGTTACT	0.443			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								23	53					0	0	0	0	A	29682945	G	A	29682945	2	1	424	1	0	0	0	0	0	0	0	1	5333	933	33	2		2	EWSR1	22	29682945	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	9843188	29682945	21621621	213	83832											
ZMAT5	55954	broad.mit.edu	37	chr22	30138423	30138423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttacctgtcagtagaaacttCctgcagggccgcttgttctg	7	13	10	11	1	2	1	1	0	1	1	3	1	3	1	3	1	3	4	3	1	3	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:30138423C>T	ENST00000397781.3	-	4	424	c.174G>A	c.(172-174)agG>agA	p.R58R	ZMAT5_ENST00000344318.3_Silent_p.R58R	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	58					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			GTAGAAACTTCCTGCAGGGCC	0.582													21	68					0	0	0	0	T	30138423	C	T	30138423	2	4	424	1	0	0	0	0	0	0	0	1	17790	854	30	2		2	ZMAT5	22	30138423	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	455478	30138423	21166143	214	83833											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859741	31859741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtccttatcgctaagacGgtgatccttctcaaaggtcc	9	11	9	12	2	1	2	1	1	1	1	6	2	4	2	3	3	0	1	3	3	3	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:31859741G>A	ENST00000397525.1	-	5	734	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R171C|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R171C|RP11-247I13.11_ENST00000483736.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	171	Arg-rich.					nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGCTAAGACGGTGATCCTTC	0.468													26	55					0	0	0	0	A	31859741	G	A	31859741	3	1	424	1	0	0	0	0	1	0	0	0	5073	1116	39	1	2509	1	EIF4ENIF1	22	31859741	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1721318	31859741	19444825	215	83834											
TRIOBP	11078	broad.mit.edu	37	chr22	38119735	38119735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaggacgatcccagagcctCctctcccaacagaaccactc	11	5	7	18	1	1	2	0	0	1	2	5	4	3	3	5	1	3	1	5	1	2	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:38119735C>T	ENST00000406386.3	+	7	1427	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	391					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAGAGCCTCCTCTCCCAAC	0.557													26	83					0	0	0	0	T	38119735	C	T	38119735	3	4	424	1	0	0	0	0	1	0	0	0	16648	855	30	2	1190	2	TRIOBP	22	38119735	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	6259994	38119735	13184831	216	83835											
SAMM50	25813	broad.mit.edu	37	chr22	44386275	44386275	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgtccccatgggagtacaGacaggcgacaggtacgtgtt	9	8	14	10	3	0	1	0	0	0	1	1	3	1	2	2	3	3	3	2	3	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:44386275G>A	ENST00000350028.4	+	14	1510	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	SAMM50_ENST00000396202.3_Silent_p.Q241Q	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	451					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGGAGTACAGACAGGCGACA	0.488													19	65					0	0	0	0	A	44386275	G	A	44386275	2	1	424	1	0	0	0	0	0	0	0	1	13914	933	33	2		2	SAMM50	22	44386275	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	6266540	44386275	6918291	217	83836											
GRAMD4	23151	broad.mit.edu	37	chr22	47063993	47063993	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctttccccttttactgaagGaacctccaaaggaagacctg	11	11	7	12	0	1	2	0	1	1	1	3	4	3	4	5	2	2	0	5	2	5	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:47063993G>A	ENST00000406902.1	+	11	1072	c.858_splice	c.e11-1	p.E287_splice	GRAMD4_ENST00000361034.3_Splice_Site_p.E287_splice			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	287					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TTTACTGAAGGAACCTCCAAA	0.542													13	25					0	0	0	0	A	47063993	G	A	47063993	5	1	424	1	0	0	0	0	0	0	1	0	6802	1188	41	2	897	2	GRAMD4	22	47063993	Splice_Site	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2677718	47063993	4240573	218	83837											
ARSD	414	broad.mit.edu	37	chrX	2825335	2825335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggtgccatccccatcctCgtggcatgaacagaacggga	9	6	14	12	2	0	2	0	1	0	1	3	3	2	3	4	4	3	1	4	4	2	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:2825335C>T	ENST00000381154.1	-	10	1834	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	587						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCCCATCCTCGTGGCATGAA	0.557													16	47					0	0	0	0	T	2825335	C	T	2825335	3	4	424	1	0	0	0	0	1	0	0	0	993	893	31	1	26	1	ARSD	23	2825335	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08		2825335	152445225	219	83838											
KAL1	3730	broad.mit.edu	37	chrX	8536379	8536379	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattccacaacatagtcacaGtctggctggagtttctccag	11	11	8	11	0	3	0	1	0	2	0	5	1	4	1	2	2	1	2	2	2	3	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:8536379G>A	ENST00000262648.3	-	8	1250	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	367	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CATAGTCACAGTCTGGCTGGA	0.438													8	30					0	0	0	0	A	8536379	G	A	8536379	2	1	424	1	0	0	0	0	0	0	0	1	8027	1020	36	4		4	KAL1	23	8536379	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	5711044	8536379	146734181	220	83839											
MSL3	10943	broad.mit.edu	37	chrX	11786730	11786730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcatcttcacctattcctCtgactcctagcaaggaaggg	10	11	8	12	0	4	1	2	1	2	0	6	3	6	2	3	2	1	1	3	2	4	4			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:11786730C>T	ENST00000380693.3	+	9	1349	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	MSL3_ENST00000312196.4_Silent_p.L404L|MSL3_ENST00000398527.2_Silent_p.L392L|MSL3_ENST00000361672.2_Silent_p.L255L|MSL3_ENST00000467141.1_3'UTR	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	404					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACCTATTCCTCTGACTCCTAG	0.403													18	46					0	0	0	0	T	11786730	C	T	11786730	2	4	424	1	0	0	0	0	0	0	0	1	9949	912	32	2		2	MSL3	23	11786730	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	3250351	11786730	143483830	221	83840											
TLR7	51284	broad.mit.edu	37	chrX	12903862	12903862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaccattaaccacataccaGacatctccccagcgtccttt	11	10	3	17	1	2	1	1	0	1	1	4	1	3	1	6	0	3	0	6	0	2	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:12903862G>C	ENST00000380659.3	+	3	374	c.235G>C	c.(235-237)Gac>Cac	p.D79H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	79					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CCACATACCAGACATCTCCCC	0.483													6	157					0	0	0	0	C	12903862	G	C	12903862	3	2	424	1	0	0	0	0	1	0	0	0	16050	942	33	2	241	2	TLR7	23	12903862	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	1117132	12903862	142366698	222	83841											
TLR8	51311	broad.mit.edu	37	chrX	12939041	12939041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttgtggaatgatgatGacaacaggtatatctccatt	13	14	8	6	0	1	3	0	3	1	0	2	4	1	4	1	2	1	1	1	2	4	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:12939041G>T	ENST00000218032.6	+	2	1969	c.1882G>T	c.(1882-1884)Gac>Tac	p.D628Y	TLR8_ENST00000311912.5_Missense_Mutation_p.D646Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	628					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAATGATGATGACAACAGGTA	0.378													18	47					8.28177e-16	8.84431e-16	1	0	T	12939041	G	T	12939041	3	4	424	1	0	0	0	0	1	0	0	0	16051	1290	45	2	1888	2	TLR8	23	12939041	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	35179	12939041	142331519	223	83842											
PDK3	5165	broad.mit.edu	37	chrX	24546214	24546214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacctaggtggtggtGtcccacttcgaaaaatagat	11	11	11	8	1	1	2	1	1	0	1	3	3	2	2	2	3	0	0	2	3	4	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:24546214G>A	ENST00000441463.2	+	9	874	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	PDK3_ENST00000379162.4_Missense_Mutation_p.V292I	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	292	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGTGGTGGTGTCCCACTTCG	0.413													10	46					0	0	0	0	A	24546214	G	A	24546214	3	1	424	1	0	0	0	0	1	0	0	0	11748	1377	48	4	908	4	PDK3	23	24546214	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	11607173	24546214	130724346	224	83843											
DMD	1756	broad.mit.edu	37	chrX	32662422	32662422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgggctgtcaaatccatCatgtacccctgacaaagaag	13	9	9	10	0	2	3	2	2	0	1	3	3	3	3	3	1	1	2	3	1	4	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:32662422C>T	ENST00000357033.4	-	11	1364	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	DMD_ENST00000288447.4_Missense_Mutation_p.M378I|DMD_ENST00000378677.2_Missense_Mutation_p.M382I	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	386					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			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)				TCAAATCCATCATGTACCCCT	0.378													20	58					0	0	0	0	T	32662422	C	T	32662422	3	4	424	1	0	0	0	0	1	0	0	0	4617	826	29	2	10418	2	DMD	23	32662422	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	8116208	32662422	122608138	225	83844											
WNK3	65267	broad.mit.edu	37	chrX	54275519	54275519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaggacagtagtgggttGaagggtagttggttcaaggc	9	11	16	5	0	1	1	1	1	0	0	2	2	2	2	1	5	0	5	1	5	4	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:54275519G>C	ENST00000354646.2	-	17	3700	c.3262C>G	c.(3262-3264)Caa>Gaa	p.Q1088E	WNK3_ENST00000375159.2_Missense_Mutation_p.Q1088E|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1088E	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1088					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.Q1088K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTAGTGGGTTGAAGGGTAGTT	0.428													22	45					0	0	0	0	C	54275519	G	C	54275519	3	2	424	1	0	0	0	0	1	0	0	0	17475	1299	45	2	2172	2	WNK3	23	54275519	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	21613097	54275519	100995041	226	83845											
FGD1	2245	broad.mit.edu	37	chrX	54472622	54472622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccggtgcctcctccatctCcctgtcctcagacagtgtgg	5	10	9	17	1	2	1	1	0	1	1	6	1	5	1	6	2	1	0	6	2	0	0			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:54472622C>T	ENST00000375135.3	-	18	3539	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	936					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCTCCATCTCCCTGTCCTCA	0.647													8	21					0	0	0	0	T	54472622	C	T	54472622	3	4	424	1	0	0	0	0	1	0	0	0	5877	864	30	2	83	2	FGD1	23	54472622	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	197103	54472622	100797938	227	83846											
ZC4H2	55906	broad.mit.edu	37	chrX	64141759	64141759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccatcttctcctgtagcaGaaggtccatctcctgcttgt	6	13	9	13	0	3	1	0	0	3	1	6	1	4	1	4	2	2	3	4	2	2	3	rs149976823	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:64141759G>A	ENST00000545618.1	-	3	711	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	ZC4H2_ENST00000337990.2_Silent_p.L32L|ZC4H2_ENST00000374839.3_Silent_p.L55L|ZC4H2_ENST00000447788.2_Silent_p.L55L|ZC4H2_ENST00000488608.1_5'UTR			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	55							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCTGTAGCAGAAGGTCCATC	0.517													8	25					0	0	0	0	A	64141759	G	A	64141759	2	1	424	1	0	0	0	0	0	0	0	1	17673	933	33	2		2	ZC4H2	23	64141759	Silent	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	9669137	64141759	91128801	228	83847											
ATRX	546	broad.mit.edu	37	chrX	76938924	76938924	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccatctttatcttgtggAacttcctgacaatcagcacc	10	13	6	12	0	3	1	1	1	2	0	4	2	4	2	3	1	3	1	3	1	4	5			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:76938924A>T	ENST00000373344.5	-	9	2038	c.1824T>A	c.(1822-1824)gtT>gtA	p.V608V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.V570V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	608					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATCTTGTGGAACTTCCTGAC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						92	178					0	0	0	0	T	76938924	A	T	76938924	2	4	424	1	0	0	0	0	0	0	0	1	1212	233	9	5		5	ATRX	23	76938924	Silent	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	12797165	76938924	78331636	229	83848											
ATRX	546	broad.mit.edu	37	chrX	76939596	76939596	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgtaattttgtagcagaActgatttctgaattatctgt	11	17	8	5	1	2	4	0	3	2	1	2	4	2	4	0	0	2	3	0	0	5	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:76939596A>T	ENST00000373344.5	-	9	1366	c.1152T>A	c.(1150-1152)agT>agA	p.S384R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S346R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	384					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTGTAGCAGAACTGATTTCTG	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						58	165					0	0	0	0	T	76939596	A	T	76939596	3	4	424	1	0	0	0	0	1	0	0	0	1212	40	2	5	6434	5	ATRX	23	76939596	Missense_Mutation	SNP	A	TCGA-HD-A4C1-01A-11D-A24D-08	672	76939596	78330964	230	83849											
BRWD3	254065	broad.mit.edu	37	chrX	79938022	79938022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttagacgttttctgtaccGtggccttctcctcttctgac	4	17	7	13	2	5	2	0	1	5	1	6	2	5	2	3	1	1	2	3	1	2	6			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:79938022G>A	ENST00000373275.4	-	38	4555	c.4339C>T	c.(4339-4341)Cgg>Tgg	p.R1447W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1447										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTCTGTACCGTGGCCTTCTC	0.383													45	120					0	0	0	0	A	79938022	G	A	79938022	3	1	424	1	0	0	0	0	1	0	0	0	1534	1144	40	1	1085	1	BRWD3	23	79938022	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	2998426	79938022	75332538	231	83850											
FAM199X	139231	broad.mit.edu	37	chrX	103411634	103411634	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcctgccatcgcacCgacccgctccaccgcttcca	5	8	6	22	4	0	0	0	0	0	0	5	1	4	0	8	0	1	3	8	0	0	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:103411634C>G	ENST00000493442.1	+	1	334	c.168C>G	c.(166-168)acC>acG	p.T56T		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	56										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GCCATCGCACCGACCCGCTCC	0.672													9	26					0	0	0	0	G	103411634	C	G	103411634	2	3	424	1	0	0	0	0	0	0	0	1	5573	639	23	3		3	FAM199X	23	103411634	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	23473612	103411634	51858926	232	83851											
IL13RA2	3598	broad.mit.edu	37	chrX	114239876	114239876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttttcttcgataggtcttCacctaggattaaaaatcaca	13	14	6	8	1	4	0	2	0	2	0	5	2	4	1	1	2	0	1	1	2	5	7			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:114239876C>T	ENST00000371936.1	-	10	1249	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E334K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	334	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GATAGGTCTTCACCTAGGATT	0.348													15	44					0	0	0	0	T	114239876	C	T	114239876	3	4	424	1	0	0	0	0	1	0	0	0	7683	835	29	2	150	2	IL13RA2	23	114239876	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	10828242	114239876	41030684	233	83852											
STAG2	10735	broad.mit.edu	37	chrX	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaacttgttgcagttgcctCagtactttgatttggaaata	10	16	8	7	0	1	1	1	1	0	0	1	2	1	2	1	1	4	4	1	1	4	8			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:123197011C>T	ENST00000371160.1	+	19	2067	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	593					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			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						GCAGTTGCCTCAGTACTTTGA	0.279													4	15					0	0	0	0	T	123197011	C	T	123197011	4	4	424	1	0	0	0	0	0	1	0	0	15333	827	29	2	1843	2	STAG2	23	123197011	Nonsense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	8957135	123197011	32073549	234	83853											
CD40LG	959	broad.mit.edu	37	chrX	135741430	135741430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaaatacccacagttcCgccaaaccttgcgggcaaca	12	6	8	15	2	0	0	0	0	0	0	1	0	1	0	4	1	5	4	4	1	4	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:135741430C>T	ENST00000370629.2	+	5	698	c.642C>T	c.(640-642)tcC>tcT	p.S214S	CD40LG_ENST00000370628.2_Silent_p.S193S	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	214					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CCCACAGTTCCGCCAAACCTT	0.493									Immune Deficiency with Hyper-IgM				83	214					0	0	0	0	T	135741430	C	T	135741430	2	4	424	1	0	0	0	0	0	0	0	1	3045	639	23	1		1	CD40LG	23	135741430	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	12544419	135741430	19529130	235	83854											
MAGEA3	4102	broad.mit.edu	37	chrX	151935758	151935758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaatttccgacgacactccCcagcatttctgcctttgtga	8	12	6	15	2	1	1	0	1	1	0	3	3	3	1	5	0	2	1	5	0	1	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:151935758C>A	ENST00000393902.3	-	3	976	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	MAGEA3_ENST00000370278.3_Missense_Mutation_p.G137W			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	137	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ACGACACTCCCCAGCATTTCT	0.517													57	160					4.88506e-25	5.27661e-25	1	0	A	151935758	C	A	151935758	3	1	424	1	0	0	0	0	1	0	0	0	9234	623	22	4	539	4	MAGEA3	23	151935758	Missense_Mutation	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	16194328	151935758	3334802	236	83855											
ATP2B3	492	broad.mit.edu	37	chrX	152845573	152845573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacatcccgctcattgaCgacacggacgtggacgagaa	13	5	10	13	5	1	2	1	1	0	1	2	6	2	4	1	2	1	1	1	2	2	1			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:152845573C>T	ENST00000263519.4	+	20	3606	c.3480C>T	c.(3478-3480)gaC>gaT	p.D1160D	ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Silent_p.D1160D	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1160					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCATTGACGACACGGACG	0.587													74	168					0	0	0	0	T	152845573	C	T	152845573	2	4	424	1	0	0	0	0	0	0	0	1	1145	535	19	1		1	ATP2B3	23	152845573	Silent	SNP	C	TCGA-HD-A4C1-01A-11D-A24D-08	909815	152845573	2424987	237	83856											
PLXNA3	55558	broad.mit.edu	37	chrX	153695621	153695621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgctgtgtaaggcccccgGcatctttcttgggcggcccc	4	10	12	15	2	2	0	0	0	2	0	2	0	2	0	4	4	1	3	4	4	1	3			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:153695621G>A	ENST00000369682.3	+	19	3423	c.3248G>A	c.(3247-3249)gGc>gAc	p.G1083D		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1083	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGCCCCCGGCATCTTTCTT	0.637													24	62					0	0	0	0	A	153695621	G	A	153695621	3	1	424	1	0	0	0	0	1	0	0	0	12193	1203	42	4	3318	4	PLXNA3	23	153695621	Missense_Mutation	SNP	G	TCGA-HD-A4C1-01A-11D-A24D-08	850048	153695621	1574939	238	83857											
AGRN	375790	broad.mit.edu	37	chr1	980739	980748	+	Splice_Site	DEL	GTGCCTGCCA	GTGCCTGCCA	-																															gtcctgccctggcctttcagGtgcctgccagtgcaaccccc																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:980739_980748delGTGCCTGCCA	ENST00000379370.2	+	14	2422_2431	c.2371_splice	c.e14-1	p.SACQ791_splice		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	791					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCTTTCAGGTGCCTGCCAGTGCAACCCC	0.7													19	54	---	---	---	---					-	980748	GTGCCTGCCA	-	980739	8	5	425	1	0	1	0	1	0	0	1	0	397	1275	44	0	2426	0	AGRN	1	980739	Splice_Site	DEL	GTGCCTGCCA	TCGA-HD-A633-01A-11D-A28R-08		980739	248269882	1	83858											
SH2D5	400745	broad.mit.edu	37	chr1	21048305	21048305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagcccaggccctgcagctCtgcctcggacttggcatggc	5	9	12	15	1	1	0	0	0	1	0	2	1	1	1	3	4	4	3	3	4	1	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:21048305C>T	ENST00000375031.1	-	9	1624	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.E418K	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	334										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTGCAGCTCTGCCTCGGAC	0.731													4	9					0	0	0	0	T	21048305	C	T	21048305	3	4	425	1	0	0	0	0	1	0	0	0	14324	922	32	2	23	2	SH2D5	1	21048305	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	20067566	21048305	228202316	2	83859											
PIGV	55650	broad.mit.edu	37	chr1	27121446	27121446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccactaatatacagctatatCcaggatgtctactggaatgt	13	12	7	9	0	1	0	0	0	1	0	2	2	2	2	2	2	3	1	2	2	7	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:27121446C>G	ENST00000374145.1	+	3	1603	c.921C>G	c.(919-921)atC>atG	p.I307M	PIGV_ENST00000449950.2_Missense_Mutation_p.I79M|PIGV_ENST00000078527.4_Missense_Mutation_p.I307M	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	307					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACAGCTATATCCAGGATGTCT	0.478													83	212					0	0	0	0	G	27121446	C	G	27121446	3	3	425	1	0	0	0	0	1	0	0	0	11973	845	30	2	927	2	PIGV	1	27121446	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	6073141	27121446	222129175	3	83860											
RLF	6018	broad.mit.edu	37	chr1	40661392	40661394	+	In_Frame_Del	DEL	TTC	TTC	-																															aggggtgtggaaaaacccagTtcttcttaaaattctgtctc																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:40661392_40661394delTTC	ENST00000372771.4	+	4	590_592	c.563_565delTTC	c.(562-567)gtt>g	p.VL188del		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	188					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAAACCCAGTTCTTCTTAAAAT	0.369													15	31	---	---	---	---					-	40661394	TTC	-	40661392	7	5	425	1	0	1	0	1	0	0	0	0	13474	1725	60	0	577	0	RLF	1	40661392	In_Frame_Del	DEL	TTC	TCGA-HD-A633-01A-11D-A28R-08	13539946	40661392	208589229	4	83861											
ZNF684	127396	broad.mit.edu	37	chr1	41012549	41012549	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaatcatacaaggaaaaAaccttttgaatgcaatgact	21	9	5	6	0	1	2	1	2	0	0	1	3	1	3	1	1	3	1	1	1	10	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:41012549A>C	ENST00000372699.3	+	5	805	c.554A>C	c.(553-555)aAa>aCa	p.K185T	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ACAAGGAAAAAACCTTTTGAA	0.368													14	38					0	0	0	0	C	41012549	A	C	41012549	3	2	425	1	0	0	0	0	1	0	0	0	18186	14	1	5	568	5	ZNF684	1	41012549	Missense_Mutation	SNP	A	TCGA-HD-A633-01A-11D-A28R-08	351157	41012549	208238072	5	83862											
POMGNT1	55624	broad.mit.edu	37	chr1	46656406	46656406	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaacctgtccacattcctGagctggacacctggaaccgt	9	8	8	16	1	0	1	0	1	0	0	2	3	2	3	6	2	3	1	6	2	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:46656406G>C	ENST00000371992.1	-	18	2240	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	POMGNT1_ENST00000371984.3_Silent_p.L530L|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Silent_p.L508L|POMGNT1_ENST00000371986.3_Silent_p.L530L|POMGNT1_ENST00000396420.3_3'UTR	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	530					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CCACATTCCTGAGCTGGACAC	0.552													32	56					0	0	0	0	C	46656406	G	C	46656406	2	2	425	1	0	0	0	0	0	0	0	1	12315	1277	45	2		2	POMGNT1	1	46656406	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	5643857	46656406	202594215	6	83863											
AMPD1	270	broad.mit.edu	37	chr1	115222935	115222935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catatcgtctaagaaggtgtCcagatttgggtaaggaagtg	12	11	13	5	1	1	2	0	0	1	2	3	3	2	3	1	3	0	1	1	3	5	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:115222935C>A	ENST00000369538.3	-	5	846	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	AMPD1_ENST00000353928.6_Missense_Mutation_p.D238Y|AMPD1_ENST00000520113.2_Missense_Mutation_p.D271Y	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	238					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAGAAGGTGTCCAGATTTGGG	0.408													28	51					3.80469e-20	4.4816e-20	1	0	A	115222935	C	A	115222935	3	1	425	1	0	0	0	0	1	0	0	0	585	855	30	2	1575	2	AMPD1	1	115222935	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	68566529	115222935	134027686	7	83864											
POGZ	23126	broad.mit.edu	37	chr1	151378561	151378561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtattgcagcatagagCaaacagtactactcgaagct	13	11	8	9	1	1	1	0	0	1	1	2	2	1	1	0	0	7	6	0	0	6	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:151378561C>A	ENST00000271715.2	-	19	3264	c.2950G>T	c.(2950-2952)Gct>Tct	p.A984S	POGZ_ENST00000540984.1_Missense_Mutation_p.A346S|POGZ_ENST00000531094.1_Missense_Mutation_p.A922S|POGZ_ENST00000491586.1_Missense_Mutation_p.A940S|POGZ_ENST00000409503.1_Missense_Mutation_p.A975S|POGZ_ENST00000392723.1_Missense_Mutation_p.A931S|POGZ_ENST00000368863.2_Missense_Mutation_p.A889S|POGZ_ENST00000361398.3_Missense_Mutation_p.A931S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	984					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			CAGCATAGAGCAAACAGTACT	0.532													25	64					6.21321e-17	7.14333e-17	1	0	A	151378561	C	A	151378561	3	1	425	1	0	0	0	0	1	0	0	0	12258	710	25	4	1286	4	POGZ	1	151378561	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	36155626	151378561	97872060	8	83865											
OLFML2B	25903	broad.mit.edu	37	chr1	161954039	161954039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccgatccagctgtacGggagcttgtaggaattgctc	7	11	13	10	2	0	0	0	0	0	0	2	3	1	2	2	2	5	5	2	2	3	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:161954039G>A	ENST00000294794.3	-	8	2102	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P561L|OLFML2B_ENST00000367938.1_Missense_Mutation_p.P43L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	560	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCAGCTGTACGGGAGCTTGTA	0.572													34	65					0	0	0	0	A	161954039	G	A	161954039	3	1	425	1	0	0	0	0	1	0	0	0	10929	1116	39	1	577	1	OLFML2B	1	161954039	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	10575478	161954039	87296582	9	83866											
UAP1	6675	broad.mit.edu	37	chr1	162558505	162558505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatgaacctcagttgcagCaccatgtggctcaaaagaag	13	10	9	9	0	2	2	2	1	0	1	2	2	2	2	2	1	3	4	2	1	5	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:162558505C>T	ENST00000271469.3	+	7	1353	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	UAP1_ENST00000367925.1_Missense_Mutation_p.H351Y|UAP1_ENST00000367924.1_Missense_Mutation_p.H351Y|UAP1_ENST00000367926.4_Missense_Mutation_p.H351Y			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	351					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGTTGCAGCACCATGTGGC	0.373													29	75					0	0	0	0	T	162558505	C	T	162558505	3	4	425	1	0	0	0	0	1	0	0	0	16921	710	25	4	1073	4	UAP1	1	162558505	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	604466	162558505	86692116	10	83867											
BLZF1	8548	broad.mit.edu	37	chr1	169345966	169345966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatgctcactgaaaaaGcaatggaagttaaagctgta	18	8	10	5	0	1	1	1	1	0	0	1	3	1	3	0	2	3	5	0	2	9	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:169345966G>T	ENST00000367808.3	+	3	640	c.217G>T	c.(217-219)Gca>Tca	p.A73S	BLZF1_ENST00000367807.3_Missense_Mutation_p.A73S|BLZF1_ENST00000329281.2_Missense_Mutation_p.A73S			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	73					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CACTGAAAAAGCAATGGAAGT	0.398													39	64					1.47244e-24	1.77805e-24	1	0	T	169345966	G	T	169345966	3	4	425	1	0	0	0	0	1	0	0	0	1458	971	34	4	223	4	BLZF1	1	169345966	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	6787461	169345966	79904655	11	83868											
GORAB	92344	broad.mit.edu	37	chr1	170508704	170508704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattggagaaaaagaaagtgGaattgttagtaagtctatgt	17	12	11	1	0	1	2	0	0	1	2	1	4	1	3	0	2	0	2	0	2	8	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:170508704G>A	ENST00000367763.3	+	2	510	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	GORAB_ENST00000367762.1_Missense_Mutation_p.E164K|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	164						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAGAAAGTGGAATTGTTAGT	0.353													13	35					0	0	0	0	A	170508704	G	A	170508704	3	1	425	1	0	0	0	0	1	0	0	0	6622	1175	41	2	496	2	GORAB	1	170508704	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	1162738	170508704	78741917	12	83869											
RALGPS2	55103	broad.mit.edu	37	chr1	178745957	178745958	+	Splice_Site	INS	-	-	T																															tgcagctactgcttctgaggINStaagatatttaagaagcttg																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:178745957_178745958insT	ENST00000367635.3	+	2	395		c.e2+1		RALGPS2_ENST00000367634.2_Splice_Site|RALGPS2_ENST00000324778.4_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGCTTCTGAGGTAAGATATTTA	0.396													10	23	---	---	---	---					T	178745958	-	T	178745957	8	5	425	1	0	1	1	0	0	0	1	0	13100	1275	44	0	60	0	RALGPS2	1	178745957	Splice_Site	INS	-	TCGA-HD-A633-01A-11D-A28R-08	8237253	178745957	70504664	13	83870											
CDK18	5129	broad.mit.edu	37	chr1	205495568	205495568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccacacagatcggtccctCaccctggtgtttgagtacct	8	11	8	14	1	1	2	1	1	0	1	4	2	3	2	4	2	1	2	4	2	1	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:205495568C>T	ENST00000360066.2	+	7	946	c.645C>T	c.(643-645)ctC>ctT	p.L215L	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L215L|CDK18_ENST00000506784.1_Silent_p.L245L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	213	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ATCGGTCCCTCACCCTGGTGT	0.592													40	94					0	0	0	0	T	205495568	C	T	205495568	2	4	425	1	0	0	0	0	0	0	0	1	3163	813	29	2		2	CDK18	1	205495568	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	26749611	205495568	43755053	14	83871											
CR1	1378	broad.mit.edu	37	chr1	207790136	207790136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccctcgctgtgaactttCtgttcctgctggttagtacc	4	15	9	13	1	1	1	0	1	1	0	3	1	2	1	4	1	4	5	4	1	3	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:207790136C>G	ENST00000367049.4	+	41	6878	c.6878C>G	c.(6877-6879)tCt>tGt	p.S2293C	CR1_ENST00000367051.1_Missense_Mutation_p.S1843C|CR1_ENST00000400960.2_Missense_Mutation_p.S1843C|CR1_ENST00000367053.1_Missense_Mutation_p.S1843C|CR1_ENST00000367052.1_Missense_Mutation_p.S1843C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1843					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGTGAACTTTCTGTTCCTGCT	0.488													35	89					0	0	0	0	G	207790136	C	G	207790136	3	3	425	1	0	0	0	0	1	0	0	0	3870	913	32	2	7040	2	CR1	1	207790136	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	2294568	207790136	41460485	15	83872											
AGT	183	broad.mit.edu	37	chr1	230846356	230846356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtcctgtagggccttttCatccacaggggatgtcttgg	5	13	13	10	0	2	0	1	0	1	0	4	1	4	1	3	5	0	1	3	5	1	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:230846356C>T	ENST00000366667.4	-	2	455	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	81					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			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)	AGGGCCTTTTCATCCACAGGG	0.562													25	55					0	0	0	0	T	230846356	C	T	230846356	3	4	425	1	0	0	0	0	1	0	0	0	399	835	29	2	1232	2	AGT	1	230846356	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	23056220	230846356	18404265	16	83873											
RGS7	6000	broad.mit.edu	37	chr1	240990401	240990401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaaatgacagttttaccttCcgtgttttgtgggggtttct	7	17	10	7	1	1	1	0	1	1	0	2	1	2	1	2	2	1	3	2	2	2	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:240990401C>T	ENST00000366565.1	-	10	1062	c.681G>A	c.(679-681)cgG>cgA	p.R227R	RGS7_ENST00000446183.2_Silent_p.R143R|RGS7_ENST00000348120.2_Silent_p.R174R|RGS7_ENST00000407727.1_Silent_p.R227R|RGS7_ENST00000366564.1_Silent_p.R227R|RGS7_ENST00000366562.4_Silent_p.R227R|RGS7_ENST00000401882.1_Silent_p.R174R|RGS7_ENST00000366563.1_Silent_p.R227R|RGS7_ENST00000331110.7_Silent_p.R201R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	227					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTTTACCTTCCGTGTTTTGT	0.408													15	36					0	0	0	0	T	240990401	C	T	240990401	2	4	425	1	0	0	0	0	0	0	0	1	13393	842	30	2		2	RGS7	1	240990401	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	10144045	240990401	8260220	17	83874											
CYP1B1	1545	broad.mit.edu	37	chr2	38298106	38298107	+	Frame_Shift_Ins	INS	-	-	A																															gcaccgccttttgcccactgINSaaaaaatcatcactctgctg																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:38298106_38298107insA	ENST00000260630.3	-	3	1791_1792	c.1390_1391insT	c.(1390-1392)agtfs	p.S464fs	CYP1B1_ENST00000407341.1_Frame_Shift_Ins_p.S464fs|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	464					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TTTGCCCACTGAAAAAATCATC	0.505													21	58	---	---	---	---					A	38298107	-	A	38298106	7	5	425	1	0	1	1	0	0	0	0	0	4183	1294	45	0	244	0	CYP1B1	2	38298106	Frame_Shift_Ins	INS	-	TCGA-HD-A633-01A-11D-A28R-08		38298106	204901267	18	83875											
MRPL53	116540	broad.mit.edu	37	chr2	74699249	74699249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctctttggcgctgtcaGcgaccagtatcagcgcccgg	5	10	13	13	4	3	0	2	0	1	0	4	1	3	0	2	3	2	2	2	3	1	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:74699249G>A	ENST00000258105.7	-	3	997	c.336C>T	c.(334-336)cgC>cgT	p.R112R	MRPL53_ENST00000409710.1_3'UTR	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	112						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						GGCGCTGTCAGCGACCAGTAT	0.547													25	105					0	0	0	0	A	74699249	G	A	74699249	2	1	425	1	0	0	0	0	0	0	0	1	9887	958	34	4		4	MRPL53	2	74699249	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	36401143	74699249	168500124	19	83876											
SMYD1	150572	broad.mit.edu	37	chr2	88367419	88367419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggagaacgtggaggtcttCaccgctgagggcaaaggaag	12	6	16	7	2	2	2	1	1	1	1	2	5	2	4	1	5	1	2	1	5	3	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:88367419C>G	ENST00000419482.2	+	1	121	c.36C>G	c.(34-36)ttC>ttG	p.F12L	SMYD1_ENST00000438570.1_Missense_Mutation_p.F12L|SMYD1_ENST00000444564.2_Missense_Mutation_p.F12L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGGAGGTCTTCACCGCTGAGG	0.512													80	242					0	0	0	0	G	88367419	C	G	88367419	3	3	425	1	0	0	0	0	1	0	0	0	14909	825	29	2	38	2	SMYD1	2	88367419	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	13668170	88367419	154831954	20	83877											
LRP2	4036	broad.mit.edu	37	chr2	170003273	170003273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgcaatgactctcctatCagtcccatcatattttatgg	9	16	5	11	0	3	1	2	1	1	0	5	1	4	1	2	1	1	1	2	1	4	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:170003273C>G	ENST00000263816.3	-	69	13072	c.12787G>C	c.(12787-12789)Gat>Cat	p.D4263H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4263					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTCTCCTATCAGTCCCATCA	0.333													19	64					0	0	0	0	G	170003273	C	G	170003273	3	3	425	1	0	0	0	0	1	0	0	0	9020	826	29	2	1224	2	LRP2	2	170003273	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	81635854	170003273	73196100	21	83878											
CHN1	1123	broad.mit.edu	37	chr2	175689193	175689193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actccctgagcaatgagaccCcacataaagttggcacagta	14	7	8	12	0	0	2	0	2	0	1	1	3	1	2	3	1	1	4	3	1	4	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:175689193C>A	ENST00000409900.3	-	8	994	c.681G>T	c.(679-681)tgG>tgT	p.W227C	CHN1_ENST00000409156.3_Missense_Mutation_p.W201C|CHN1_ENST00000295497.7_Missense_Mutation_p.W102C|CHN1_ENST00000409597.1_Missense_Mutation_p.W43C|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	227					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CAATGAGACCCCACATAAAGT	0.463			T	TAF15	extraskeletal myxoid chondrosarcoma								7	11					0.000274275	0.000284653	1	0	A	175689193	C	A	175689193	3	1	425	1	0	0	0	0	1	0	0	0	3391	624	22	4	722	4	CHN1	2	175689193	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	5685920	175689193	67510180	22	83879											
FAM171B	165215	broad.mit.edu	37	chr2	187611928	187611928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagttctacaacagtttttGaaagtggacaattttctgca	13	14	7	7	0	2	1	0	1	2	0	2	2	2	2	0	1	3	3	0	1	4	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:187611928G>C	ENST00000304698.5	+	4	878	c.675G>C	c.(673-675)ttG>ttC	p.L225F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	225						integral to membrane	DNA binding	p.L225L(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACAGTTTTTGAAAGTGGACA	0.313													13	12					0	0	0	0	C	187611928	G	C	187611928	3	2	425	1	0	0	0	0	1	0	0	0	5532	1281	45	2	689	2	FAM171B	2	187611928	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	11922735	187611928	55587445	23	83880											
EEF1B2	1933	broad.mit.edu	37	chr2	207026158	207026158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctacagatagtaaagatGatgatgacattgacctcttt	14	12	9	6	0	1	6	0	4	1	2	1	7	1	6	1	0	2	2	1	0	4	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:207026158G>T	ENST00000392222.2	+	3	667	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	EEF1B2_ENST00000236957.5_Missense_Mutation_p.D98Y|EEF1B2_ENST00000392221.1_Missense_Mutation_p.D98Y	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	98						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TAGTAAAGATGATGATGACAT	0.468													32	52					1.56442e-22	1.8773e-22	1	0	T	207026158	G	T	207026158	3	4	425	1	0	0	0	0	1	0	0	0	4961	1290	45	2	302	2	EEF1B2	2	207026158	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	19414230	207026158	36173215	24	83881											
FARSB	10056	broad.mit.edu	37	chr2	223436724	223436724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatctctgcacatcgccCggggaagaaagcaggccctg	12	5	12	12	2	1	2	0	0	1	2	3	3	1	3	2	3	2	2	2	3	3	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:223436724C>T	ENST00000281828.6	-	17	1899	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R	FARSB_ENST00000536361.1_Missense_Mutation_p.G447R	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	546					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GCACATCGCCCGGGGAAGAAA	0.468													14	25					0	0	0	0	T	223436724	C	T	223436724	3	4	425	1	0	0	0	0	1	0	0	0	5725	652	23	1	137	1	FARSB	2	223436724	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	16410566	223436724	19762649	25	83882											
TMF1	7110	broad.mit.edu	37	chr3	69101126	69101126	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacggaatggtctcggcccAgatgctcggctcctcttcct	6	11	10	14	3	2	1	0	0	2	1	6	2	4	2	3	4	2	2	3	4	2	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:69101126A>T	ENST00000543976.1	-	1	358	c.112T>A	c.(112-114)Tgg>Agg	p.W38R	TMF1_ENST00000398559.2_Missense_Mutation_p.W38R|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	38					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTCTCGGCCCAGATGCTCGGC	0.602													48	36					0	0	0	0	T	69101126	A	T	69101126	3	4	425	1	0	0	0	0	1	0	0	0	16322	188	7	5	3237	5	TMF1	3	69101126	Missense_Mutation	SNP	A	TCGA-HD-A633-01A-11D-A28R-08		69101126	128921304	26	83883											
MSL2	55167	broad.mit.edu	37	chr3	135870279	135870279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgcggttagagtagcaagGgcagcgttggcctcggcatg	7	10	16	8	3	0	1	0	0	0	1	1	1	0	1	1	4	3	6	1	4	3	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:135870279G>A	ENST00000309993.2	-	2	2176	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	MSL2_ENST00000434835.2_Missense_Mutation_p.P408S	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	482					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GAGTAGCAAGGGCAGCGTTGG	0.483													12	39					0	0	0	0	A	135870279	G	A	135870279	3	1	425	1	0	0	0	0	1	0	0	0	9948	1232	43	4	293	4	MSL2	3	135870279	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	66769153	135870279	62152151	27	83884											
SLC2A2	6514	broad.mit.edu	37	chr3	170715727	170715727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcctaggaatttcatttCtacagcagcttttggcctgt	8	15	8	10	0	2	0	1	0	1	0	3	1	3	1	2	2	4	3	2	2	3	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:170715727C>T	ENST00000314251.3	-	11	1619	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	SLC2A2_ENST00000382808.4_Missense_Mutation_p.E395K	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	514					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AATTTCATTTCTACAGCAGCT	0.378													22	105					0	0	0	0	T	170715727	C	T	170715727	3	4	425	1	0	0	0	0	1	0	0	0	14632	922	32	2	38	2	SLC2A2	3	170715727	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	34845448	170715727	27306703	28	83885											
CCDC39	339829	broad.mit.edu	37	chr3	180377338	180377338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctttcattatgaatcttacGaaaatcttgtgctgctttat	10	19	5	7	1	4	1	1	1	3	0	4	2	4	1	0	0	3	2	0	0	6	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:180377338G>C	ENST00000273654.4	-	12	1511	c.892C>G	c.(892-894)Cgt>Ggt	p.R298G	CCDC39_ENST00000442201.2_Missense_Mutation_p.R214G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	214					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.R298C(1)|p.R214C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAATCTTACGAAAATCTTGT	0.348													11	60					0	0	0	0	C	180377338	G	C	180377338	3	2	425	1	0	0	0	0	1	0	0	0	2837	1058	37	3	2245	3	CCDC39	3	180377338	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	9661611	180377338	17645092	29	83886											
KLHL6	89857	broad.mit.edu	37	chr3	183273362	183273362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgggagggctcatctgtaGaaggtgccaggggcccttcc	6	9	15	11	0	3	1	1	0	2	1	4	2	4	2	3	5	1	2	3	5	2	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:183273362G>C	ENST00000341319.3	-	1	115	c.80C>G	c.(79-81)tCt>tGt	p.S27C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	27										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTCATCTGTAGAAGGTGCCAG	0.522													46	196					0	0	0	0	C	183273362	G	C	183273362	3	2	425	1	0	0	0	0	1	0	0	0	8445	942	33	2	1813	2	KLHL6	3	183273362	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	2896024	183273362	14749068	30	83887											
ECE2	9718	broad.mit.edu	37	chr3	184003327	184003327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctcaagcctggaccgaCgctttgagtctgcacaagag	11	7	10	13	2	2	2	1	1	1	1	2	4	2	3	3	1	3	2	3	1	3	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:184003327C>T	ENST00000402825.3	+	10	1564	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ECE2_ENST00000357474.5_Missense_Mutation_p.R450C|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R375C|ECE2_ENST00000404464.3_Missense_Mutation_p.R404C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	522	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGGACCGACGCTTTGAGTC	0.498													53	56					0	0	0	0	T	184003327	C	T	184003327	3	4	425	1	0	0	0	0	1	0	0	0	4926	536	19	1	2166	1	ECE2	3	184003327	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	729965	184003327	14019103	31	83888											
ATP13A5	344905	broad.mit.edu	37	chr3	193039614	193039614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcacaaggtgatgatggCttccactggactctgcaagc	9	9	12	11	0	1	2	0	2	1	0	2	3	2	3	1	4	2	3	1	4	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:193039614C>A	ENST00000342358.4	-	16	1888	c.1771G>T	c.(1771-1773)Gcc>Tcc	p.A591S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	591					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGATGATGGCTTCCACTGGA	0.473													34	52					9.8876e-21	1.17186e-20	1	0	A	193039614	C	A	193039614	3	1	425	1	0	0	0	0	1	0	0	0	1131	797	28	4	1943	4	ATP13A5	3	193039614	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	9036287	193039614	4982816	32	83889											
EPHA5	2044	broad.mit.edu	37	chr4	66233087	66233087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttactgtgcccattatGaaaatgcatcttttcctctt	8	18	5	10	0	2	1	0	1	2	0	3	1	3	1	2	0	4	2	2	0	4	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:66233087G>T	ENST00000273854.3	-	10	2512	c.1912C>A	c.(1912-1914)Cat>Aat	p.H638N	EPHA5_ENST00000511294.1_Missense_Mutation_p.H639N|EPHA5_ENST00000432638.2_Missense_Mutation_p.H475N|EPHA5_ENST00000354839.4_Missense_Mutation_p.H616N	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	638					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.H638N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCCCATTATGAAAATGCATC	0.338										TSP Lung(17;0.13)			10	20					0.000673444	0.000691451	1	0	T	66233087	G	T	66233087	3	4	425	1	0	0	0	0	1	0	0	0	5208	1290	45	2	1237	2	EPHA5	4	66233087	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		66233087	124921189	33	83890											
ENAM	10117	broad.mit.edu	37	chr4	71509073	71509073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaccccataaataccccaGaccagaaggagatagtccct	14	7	6	14	0	1	3	0	0	1	3	2	4	2	3	6	1	2	0	6	1	6	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:71509073G>A	ENST00000396073.3	+	9	2211	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	644					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAATACCCCAGACCAGAAGGA	0.438													43	126					0	0	0	0	A	71509073	G	A	71509073	3	1	425	1	0	0	0	0	1	0	0	0	5150	942	33	2	1960	2	ENAM	4	71509073	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	5275986	71509073	119645203	34	83891											
NPFFR2	10886	broad.mit.edu	37	chr4	73013516	73013516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaaaagaaactactaacaGcagtgagatttaaaaagagc	21	8	7	5	0	0	3	0	1	0	3	0	4	0	3	0	0	5	1	0	0	8	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:73013516G>A	ENST00000308744.6	+	4	1654	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S420N|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S417N	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	519					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACTACTAACAGCAGTGAGATT	0.338													22	26					0	0	0	0	A	73013516	G	A	73013516	3	1	425	1	0	0	0	0	1	0	0	0	10648	971	34	4	1576	4	NPFFR2	4	73013516	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	1504443	73013516	118140760	35	83892											
ADAM29	11086	broad.mit.edu	37	chr4	175896836	175896836	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctccaggctggctctccTatatcctgccctttggaggc	5	11	9	16	0	1	0	0	0	1	0	4	1	3	1	5	4	1	2	5	4	2	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:175896836T>A	ENST00000359240.3	+	5	830	c.160T>A	c.(160-162)Tat>Aat	p.Y54N	ADAM29_ENST00000404450.4_Missense_Mutation_p.Y54N|ADAM29_ENST00000445694.1_Missense_Mutation_p.Y54N|ADAM29_ENST00000514159.1_Missense_Mutation_p.Y54N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	54					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTGGCTCTCCTATATCCTGCC	0.522													15	27					0	0	0	0	A	175896836	T	A	175896836	3	1	425	1	0	0	0	0	1	0	0	0	247	1522	53	5	162	5	ADAM29	4	175896836	Missense_Mutation	SNP	T	TCGA-HD-A633-01A-11D-A28R-08	102883320	175896836	15257440	36	83893											
WWC2	80014	broad.mit.edu	37	chr4	184182526	184182526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccatcagttcactgctGactttgaagactgtgagttg	8	14	9	10	0	3	4	2	3	1	1	4	4	3	4	1	0	1	3	1	0	1	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:184182526G>A	ENST00000403733.3	+	11	1949	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	WWC2_ENST00000513834.1_Missense_Mutation_p.D584N|WWC2_ENST00000504005.1_Missense_Mutation_p.D266N|WWC2_ENST00000448232.2_Missense_Mutation_p.D584N|WWC2_ENST00000378925.3_Missense_Mutation_p.D486N	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	584										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTCACTGCTGACTTTGAAGA	0.483													6	16					0	0	0	0	A	184182526	G	A	184182526	3	1	425	1	0	0	0	0	1	0	0	0	17508	1290	45	2	1792	2	WWC2	4	184182526	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	8285690	184182526	6971750	37	83894											
FAT1	2195	broad.mit.edu	37	chr4	187542225	187542225	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgaaaaatacttgtttCttcatagtccagacttagta	15	14	6	6	0	2	2	1	1	1	1	3	2	3	2	1	0	1	2	1	0	7	7			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:187542225C>A	ENST00000441802.2	-	10	5724	c.5515G>T	c.(5515-5517)Gaa>Taa	p.E1839*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1839	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACTTGTTTCTTCATAGTCC	0.373										HNSCC(5;0.00058)			12	11					2.27111e-07	2.44974e-07	1	0	A	187542225	C	A	187542225	4	1	425	1	0	0	0	0	0	1	0	0	5734	922	32	2	8323	2	FAT1	4	187542225	Nonsense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	3359699	187542225	3612051	38	83895											
ADCY2	108	broad.mit.edu	37	chr5	7717315	7717315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaagaattgaatgaaagGatgattcaagcaattgatgg	18	9	12	2	0	1	6	1	4	0	2	1	8	1	7	0	2	1	1	0	2	7	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:7717315G>T	ENST00000338316.4	+	12	1757	c.1668G>T	c.(1666-1668)agG>agT	p.R556S	ADCY2_ENST00000537121.1_Missense_Mutation_p.R376S|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	556					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			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						TGAATGAAAGGATGATTCAAG	0.269													13	44					3.27435e-08	3.59243e-08	1	0	T	7717315	G	T	7717315	3	4	425	1	0	0	0	0	1	0	0	0	294	1165	41	2	1714	2	ADCY2	5	7717315	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		7717315	173197945	39	83896											
JMY	133746	broad.mit.edu	37	chr5	78610397	78610397	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttgaataacaacctcgaAccatgttctgttaccataaa	14	13	4	10	1	1	1	0	1	1	0	2	2	1	1	3	0	4	2	3	0	7	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:78610397A>G	ENST00000396137.4	+	9	2844	c.2382A>G	c.(2380-2382)gaA>gaG	p.E794E	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	794	Pro-rich.				'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			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)		ACAACCTCGAACCATGTTCTG	0.517													38	88					0	0	0	0	G	78610397	A	G	78610397	2	3	425	1	0	0	0	0	0	0	0	1	8010	40	2	5		5	JMY	5	78610397	Silent	SNP	A	TCGA-HD-A633-01A-11D-A28R-08	70893082	78610397	102304863	40	83897											
MSH3	4437	broad.mit.edu	37	chr5	79965953	79965953	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagtcagtttggatcatCaaatacaagtcatgaaaatt	15	13	6	7	0	5	1	5	1	1	0	6	2	5	2	0	1	1	1	0	1	5	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:79965953C>G	ENST00000265081.6	+	4	697	c.617C>G	c.(616-618)tCa>tGa	p.S206*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	206	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTTGGATCATCAAATACAAGT	0.338								Mismatch excision repair (MMR)					4	21					0	0	0	0	G	79965953	C	G	79965953	4	3	425	1	0	0	0	0	0	1	0	0	9941	838	29	2	631	2	MSH3	5	79965953	Nonsense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	1355556	79965953	100949307	41	83898											
DND1	373863	broad.mit.edu	37	chr5	140052314	140052314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcctgcgcgccgcgcctcGagctgtagcgggcataggcg	4	5	17	15	8	0	0	0	0	0	0	1	1	0	0	3	3	3	3	3	3	2	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:140052314G>A	ENST00000542735.1	-	3	363	c.320C>T	c.(319-321)tCg>tTg	p.S107L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	107	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGCCTCGAGCTGTAGCG	0.687													8	17					0	0	0	0	A	140052314	G	A	140052314	3	1	425	1	0	0	0	0	1	0	0	0	4702	1059	37	1	749	1	DND1	5	140052314	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	60086361	140052314	40862946	42	83899											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													5	197					1.23904e-05	1.31434e-05	1	0	T	140553994	G	T	140553994	2	4	425	1	0	0	0	0	0	0	0	1	11618	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	501680	140553994	40361266	43	83900											
MRPL22	29093	broad.mit.edu	37	chr5	154330430	154330430	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcttctcttgacatttctCgaaaatgggagaagaagaat	13	12	10	6	1	2	4	0	1	2	3	4	6	2	4	0	1	1	1	0	1	5	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:154330430C>T	ENST00000523037.1	+	3	168	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Nonsense_Mutation_p.R69*|MRPL22_ENST00000522038.1_Nonsense_Mutation_p.R49*	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	43					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACATTTCTCGAAAATGGGA	0.393													15	37					0	0	0	0	T	154330430	C	T	154330430	4	4	425	1	0	0	0	0	0	1	0	0	9858	876	31	1	137	1	MRPL22	5	154330430	Nonsense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	13776436	154330430	26584830	44	83901											
TIMD4	91937	broad.mit.edu	37	chr5	156381740	156381740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgacccaaaacctccGtcacaacagtctctgaagtg	11	7	8	15	2	2	2	1	2	1	0	4	2	3	2	4	1	2	0	4	1	4	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:156381740G>A	ENST00000274532.2	-	2	142	c.86C>T	c.(85-87)aCg>aTg	p.T29M	TIMD4_ENST00000407087.3_Missense_Mutation_p.T29M	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	29	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAAACCTCCGTCACAACAGT	0.493													13	37					0	0	0	0	A	156381740	G	A	156381740	3	1	425	1	0	0	0	0	1	0	0	0	15997	1145	40	1	1082	1	TIMD4	5	156381740	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	2051310	156381740	24533520	45	83902											
CYFIP2	26999	broad.mit.edu	37	chr5	156760406	156760406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccatgtataaatccttGgaccaagctatcagccgctt	10	10	8	13	2	1	0	1	0	0	0	2	1	2	1	5	1	2	3	5	1	5	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:156760406G>A	ENST00000347377.6	+	21	2768	c.2337G>A	c.(2335-2337)ttG>ttA	p.L779L	CYFIP2_ENST00000442283.2_Silent_p.L64L|CYFIP2_ENST00000541131.1_Silent_p.L704L|CYFIP2_ENST00000435847.2_Silent_p.L478L|CYFIP2_ENST00000377576.3_Silent_p.L779L|CYFIP2_ENST00000318218.6_Silent_p.L804L|CYFIP2_ENST00000522463.1_Silent_p.L583L|CYFIP2_ENST00000521420.1_Silent_p.L753L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	804					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAAATCCTTGGACCAAGCTA	0.478													72	222					0	0	0	0	A	156760406	G	A	156760406	2	1	425	1	0	0	0	0	0	0	0	1	4170	1339	47	4		4	CYFIP2	5	156760406	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	378666	156760406	24154854	46	83903											
CANX	821	broad.mit.edu	37	chr5	179143227	179143227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaattgaggacccagaagaCcggaagcccgaggattggga	14	4	15	8	2	0	3	0	1	0	2	0	9	0	7	3	4	1	0	3	4	3	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:179143227C>T	ENST00000247461.4	+	8	1043	c.843C>T	c.(841-843)gaC>gaT	p.D281D	CANX_ENST00000415618.2_Silent_p.D316D|CANX_ENST00000512607.2_Silent_p.D173D|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Silent_p.D281D|CANX_ENST00000504734.1_Silent_p.D281D	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	281	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCAGAAGACCGGAAGCCCG	0.463													14	53					0	0	0	0	T	179143227	C	T	179143227	2	4	425	1	0	0	0	0	0	0	0	1	2643	506	18	4		4	CANX	5	179143227	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	22382821	179143227	1772033	47	83904											
KIF13A	63971	broad.mit.edu	37	chr6	17779326	17779326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggtcctctatctcctcaGttgcctacgaggacaggaag	8	9	10	14	2	3	0	1	0	2	0	5	3	4	2	4	3	2	1	4	3	3	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:17779326G>A	ENST00000378814.5	-	32	3904	c.3905C>T	c.(3904-3906)aCt>aTt	p.T1302I	KIF13A_ENST00000378826.2_Missense_Mutation_p.T1315I|KIF13A_ENST00000259711.6_Missense_Mutation_p.T1315I|KIF13A_ENST00000378816.5_Missense_Mutation_p.T1315I|KIF13A_ENST00000378843.2_Missense_Mutation_p.T1302I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1315					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TATCTCCTCAGTTGCCTACGA	0.473													9	18					0	0	0	0	A	17779326	G	A	17779326	3	1	425	1	0	0	0	0	1	0	0	0	8325	1029	36	4	1526	4	KIF13A	6	17779326	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		17779326	153335741	48	83905											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158619	26158619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aacgacatcttcgagcgcatCgcaggcgaggcttcccgcct	8	7	11	15	6	1	0	0	0	1	0	4	3	2	0	2	2	2	3	2	2	1	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26158619C>G	ENST00000289316.2	+	1	246	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I74M	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	74					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCGAGCGCATCGCAGGCGAGG	0.602													80	168					0	0	0	0	G	26158619	C	G	26158619	3	3	425	1	0	0	0	0	1	0	0	0	7193	874	31	3	224	3	HIST1H2BD	6	26158619	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	8379293	26158619	144956448	49	83906											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197305	26197305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcgaatcagcagctcggtCgacttctggtagcggcggat	7	10	14	10	5	2	0	1	0	1	0	4	3	2	1	0	4	4	3	0	4	2	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26197305C>T	ENST00000377831.5	-	2	627	c.174G>A	c.(172-174)tcG>tcA	p.S58S	HIST1H3D_ENST00000356476.2_Silent_p.S58S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	58					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCAGCTCGGTCGACTTCTGGT	0.627													42	82					0	0	0	0	T	26197305	C	T	26197305	2	4	425	1	0	0	0	0	0	0	0	1	7208	871	31	1		1	HIST1H3D	6	26197305	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	38686	26197305	144917762	50	83907											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205145	26205145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggatgtggtctacgcgctGaagagacagggacgcactct	10	8	14	9	3	2	2	0	1	2	1	2	5	2	4	0	3	1	2	0	3	2	1	rs143252055	by1000genomes	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26205145G>A	ENST00000360441.4	+	1	288	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	91					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			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)				TCTACGCGCTGAAGAGACAGG	0.527													16	50					0	0	0	0	A	26205145	G	A	26205145	2	1	425	1	0	0	0	0	0	0	0	1	7219	1277	45	2		2	HIST1H4E	6	26205145	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	7840	26205145	144909922	51	83908											
DAXX	1616	broad.mit.edu	37	chr6	33287306	33287306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattctctaagacagtggtGaagggctcctctgattgctt	8	13	10	10	0	2	3	0	2	2	1	4	3	3	3	2	2	1	2	2	2	2	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:33287306G>A	ENST00000374542.5	-	6	1995	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	DAXX_ENST00000414083.2_Silent_p.F522F|DAXX_ENST00000266000.6_Silent_p.F597F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	597	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGACAGTGGTGAAGGGCTCCT	0.522			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								42	75					0	0	0	0	A	33287306	G	A	33287306	2	1	425	1	0	0	0	0	0	0	0	1	4276	1281	45	2		2	DAXX	6	33287306	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	7082161	33287306	137827761	52	83909											
SRF	6722	broad.mit.edu	37	chr6	43143452	43143452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgggtataggacacactGaagccggcgttcacagtcac	10	8	11	12	2	3	1	2	1	1	0	3	2	3	2	1	3	1	2	1	3	3	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43143452G>A	ENST00000265354.4	+	3	1147	c.789G>A	c.(787-789)ctG>ctA	p.L263L	SRF_ENST00000457278.2_Silent_p.L59L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	263					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGACACACTGAAGCCGGCGT	0.547													51	123					0	0	0	0	A	43143452	G	A	43143452	2	1	425	1	0	0	0	0	0	0	0	1	15233	1277	45	2		2	SRF	6	43143452	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	9856146	43143452	127971615	53	83910											
SRF	6722	broad.mit.edu	37	chr6	43143635	43143635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaatgggactgtgctgaaGagtacaggcagcggccctgt	9	7	15	10	1	0	2	0	1	0	1	0	3	0	3	2	3	3	3	2	3	3	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43143635G>C	ENST00000265354.4	+	3	1330	c.972G>C	c.(970-972)aaG>aaC	p.K324N	SRF_ENST00000457278.2_Missense_Mutation_p.K120N	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	324					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGTGCTGAAGAGTACAGGCA	0.607													25	76					0	0	0	0	C	43143635	G	C	43143635	3	2	425	1	0	0	0	0	1	0	0	0	15233	933	33	2	982	2	SRF	6	43143635	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	183	43143635	127971432	54	83911											
SLC22A7	10864	broad.mit.edu	37	chr6	43269338	43269338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgtgagcaaagtggcCgccggggaacgggtggtccg	7	5	19	10	4	0	1	0	1	0	0	1	2	1	2	3	6	2	2	3	6	2	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43269338C>T	ENST00000372585.5	+	7	1064	c.969C>T	c.(967-969)gcC>gcT	p.A323A	SLC22A7_ENST00000372589.3_Silent_p.A321A|SLC22A7_ENST00000372574.3_Silent_p.A321A|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	323						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCAAAGTGGCCGCCGGGGAAC	0.582													11	33					0	0	0	0	T	43269338	C	T	43269338	2	4	425	1	0	0	0	0	0	0	0	1	14547	639	23	1		1	SLC22A7	6	43269338	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	125703	43269338	127845729	55	83912											
PAPOLB	56903	broad.mit.edu	37	chr7	4899702	4899702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaactttcattggtattCacctgttgcaaggaaaattc	11	14	7	9	0	2	1	2	1	0	0	3	2	2	2	2	2	2	3	2	2	5	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:4899702C>T	ENST00000404991.1	-	1	1923	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	579					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CATTGGTATTCACCTGTTGCA	0.468													22	89					0	0	0	0	T	4899702	C	T	4899702	2	4	425	1	0	0	0	0	0	0	0	1	11501	813	29	2		2	PAPOLB	7	4899702	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08		4899702	154238961	56	83913											
CDCA7L	55536	broad.mit.edu	37	chr7	21948040	21948040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctagacctgcttcttctaGgggtagccttatcttcttct	5	18	7	11	0	6	1	0	0	6	1	6	1	6	1	2	2	2	2	2	2	4	9			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:21948040G>A	ENST00000406877.3	-	4	668	c.389C>T	c.(388-390)cCt>cTt	p.P130L	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.P84L|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P96L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	130					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCTTCTTCTAGGGGTAGCCTT	0.438													18	77					0	0	0	0	A	21948040	G	A	21948040	3	1	425	1	0	0	0	0	1	0	0	0	3120	1000	35	4	1003	4	CDCA7L	7	21948040	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	17048338	21948040	137190623	57	83914											
SNX10	29887	broad.mit.edu	37	chr7	26412152	26412152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtagtgatgacagcagttCacatggatgtaaagtaaata	16	10	10	5	0	1	2	1	2	0	0	1	3	1	3	0	1	1	5	0	1	6	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:26412152C>T	ENST00000338523.4	+	7	753	c.566C>T	c.(565-567)tCa>tTa	p.S189L	SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.S149L|SNX10_ENST00000396376.1_Missense_Mutation_p.S189L|AC004540.4_ENST00000451368.1_RNA|SNX10_ENST00000409838.1_Missense_Mutation_p.S105L|AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000446848.2_Missense_Mutation_p.S215L	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	189					cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GACAGCAGTTCACATGGATGT	0.373													77	143					0	0	0	0	T	26412152	C	T	26412152	3	4	425	1	0	0	0	0	1	0	0	0	14969	838	29	2	588	2	SNX10	7	26412152	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	4464112	26412152	132726511	58	83915											
FAM188B	84182	broad.mit.edu	37	chr7	30825451	30825451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcccatgcagacggtccCgggtgaaactcctgtgttga	9	9	12	11	2	0	3	0	2	0	1	2	3	2	3	3	2	3	2	3	2	2	2	rs111491161		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:30825451C>T	ENST00000265299.6	+	4	583	c.506C>T	c.(505-507)cCg>cTg	p.P169L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	169								p.P169L(1)|p.P169Q(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGACGGTCCCGGGTGAAACT	0.473													30	140					0	0	0	0	T	30825451	C	T	30825451	3	4	425	1	0	0	0	0	1	0	0	0	5557	652	23	1	520	1	FAM188B	7	30825451	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	4413299	30825451	128313212	59	83916											
TYW1	55253	broad.mit.edu	37	chr7	66479369	66479369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaggtgactagtaaaaatGtctgtgtcttcctggttgcg	8	15	12	6	1	2	1	0	1	2	0	3	1	3	1	1	2	1	3	1	2	5	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:66479369G>T	ENST00000359626.5	+	5	555	c.391G>T	c.(391-393)Gtc>Ttc	p.V131F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	131	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TAGTAAAAATGTCTGTGTCTT	0.383													12	53					0.00136819	0.0013973	1	0	T	66479369	G	T	66479369	3	4	425	1	0	0	0	0	1	0	0	0	16914	1377	48	4	409	4	TYW1	7	66479369	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	35653918	66479369	92659294	60	83917											
ZNF804B	219578	broad.mit.edu	37	chr7	88847522	88847522	+	Frame_Shift_Del	DEL	C	C	-																															ctggaagatgtaaaggcaaaCttttactgtgaattatgtga																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:88847522delC	ENST00000333190.4	+	2	771	c.162delC	c.(160-162)aafs	p.N54fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	54						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAGGCAAACTTTTACTGTG	0.363										HNSCC(36;0.09)			16	40	---	---	---	---					-	88847522	C	-	88847522	7	5	425	1	0	1	0	1	0	0	0	0	18264	564	20	0	168	0	ZNF804B	7	88847522	Frame_Shift_Del	DEL	C	TCGA-HD-A633-01A-11D-A28R-08	22368153	88847522	70291141	61	83918											
DLX5	1749	broad.mit.edu	37	chr7	96651680	96651680	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggctcggtcacttctttCtctaaataatcaaaacagac	12	12	6	11	2	4	1	2	0	2	1	7	1	4	1	0	2	1	1	0	2	5	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:96651680C>T	ENST00000222598.4	-	2	830	c.355_splice	c.e2-1	p.E119_splice	DLX5_ENST00000486603.2_Splice_Site_p.E119_splice|DLX5_ENST00000493764.1_Intron	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	119					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCACTTCTTTCTCTAAATAAT	0.448													17	44					0	0	0	0	T	96651680	C	T	96651680	5	4	425	1	0	0	0	0	0	0	1	0	4611	927	32	2	520	2	DLX5	7	96651680	Splice_Site	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	7804158	96651680	62486983	62	83919											
GIMAP2	26157	broad.mit.edu	37	chr7	150389761	150389761	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaggctgcacagagggtGaaggagatctttggagagga	12	6	17	6	0	1	4	0	1	1	3	1	7	1	5	0	5	2	3	0	5	1	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:150389761G>A	ENST00000223293.5	+	3	481	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	129						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGAGGGTGAAGGAGATCT	0.552													21	34					0	0	0	0	A	150389761	G	A	150389761	2	1	425	1	0	0	0	0	0	0	0	1	6431	1277	45	2		2	GIMAP2	7	150389761	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	53738081	150389761	8748902	63	83920											
DPYSL2	1808	broad.mit.edu	37	chr8	26492304	26492304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttttgcaggtcgaggcCgaagccgtgaatcgtgccat	7	10	14	10	4	0	1	0	1	0	0	2	3	0	1	3	2	3	3	3	2	2	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:26492304C>T	ENST00000311151.5	+	8	1111	c.699C>T	c.(697-699)gcC>gcT	p.A233A	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Silent_p.A197A|DPYSL2_ENST00000523027.1_Silent_p.A197A	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	233					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGTCGAGGCCGAAGCCGTGA	0.567													33	67					0	0	0	0	T	26492304	C	T	26492304	2	4	425	1	0	0	0	0	0	0	0	1	4783	639	23	1		1	DPYSL2	8	26492304	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08		26492304	119871718	64	83921											
PKHD1L1	93035	broad.mit.edu	37	chr8	110422190	110422190	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatatttcagagactatGaaactgattttaatctggta	15	15	7	4	0	2	4	1	3	1	1	2	5	2	4	0	1	1	1	0	1	6	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:110422190G>T	ENST00000378402.5	+	19	2172	c.2068G>T	c.(2068-2070)Gaa>Taa	p.E690*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	690					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAGACTATGAAACTGATTT	0.294										HNSCC(38;0.096)			5	6					0.000602214	0.000621641	1	0	T	110422190	G	T	110422190	4	4	425	1	0	0	0	0	0	1	0	0	12044	1291	45	2	2142	2	PKHD1L1	8	110422190	Nonsense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	83929886	110422190	35941832	65	83922											
TG	7038	broad.mit.edu	37	chr8	133925400	133925400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcccagcggaaaccatccGcttcctccaaggggaccact	9	7	9	16	2	0	0	0	0	0	0	4	2	4	2	6	3	2	2	6	3	2	2	rs146594373		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:133925400G>A	ENST00000220616.4	+	20	4308	c.4268G>A	c.(4267-4269)cGc>cAc	p.R1423H	TG_ENST00000377869.1_Missense_Mutation_p.R1423H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1423					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R1423H(1)|p.R1423L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAACCATCCGCTTCCTCCAA	0.557													18	40					0	0	0	0	A	133925400	G	A	133925400	3	1	425	1	0	0	0	0	1	0	0	0	15907	1087	38	1	4346	1	TG	8	133925400	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	23503210	133925400	12438622	66	83923											
CDKN2A	1029	broad.mit.edu	37	chr9	21971128	21971128	+	Frame_Shift_Del	DEL	G	G	-																															cgtgcacgggtcgggtgagaGtggcggggtcggcgcagttg																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:21971128delG	ENST00000579755.1	-	2	565	c.273delC	c.(271-273)cafs	p.H91fs	CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H91fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H132fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.T26fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.T77fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(3)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T77S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGTGAGAGTGGCGGGGTC	0.716		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	18	---	---	---	---					-	21971128	G	-	21971128	7	5	425	1	0	1	0	1	0	0	0	0	3190	1029	36	0	248	0	CDKN2A	9	21971128	Frame_Shift_Del	DEL	G	TCGA-HD-A633-01A-11D-A28R-08		21971128	119242303	67	83924											
TRPM3	80036	broad.mit.edu	37	chr9	73296482	73296482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtccttctgatcccatccGaaataccgtaatctgcaatt	10	13	6	12	2	2	1	0	1	2	0	5	2	5	1	4	0	2	2	4	0	4	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:73296482G>A	ENST00000377110.2	-	9	1528	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRPM3_ENST00000377105.1_Missense_Mutation_p.R276W|TRPM3_ENST00000377111.2_Missense_Mutation_p.R429W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R276W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R301W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R301W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R301W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R456W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R276W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R276W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R301W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R431W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	454						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATCCCATCCGAAATACCGTA	0.393													11	43					0	0	0	0	A	73296482	G	A	73296482	3	1	425	1	0	0	0	0	1	0	0	0	16682	1057	37	1	3946	1	TRPM3	9	73296482	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	51325354	73296482	67916949	68	83925											
TMEM2	23670	broad.mit.edu	37	chr9	74360219	74360219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacccaaagggcaagcctGaggaattcagggtccttgcc	11	6	13	11	0	1	1	1	1	0	0	2	3	2	3	4	4	2	1	4	4	3	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:74360219G>A	ENST00000377044.4	-	4	1288	c.749C>T	c.(748-750)tCa>tTa	p.S250L	TMEM2_ENST00000377066.5_Missense_Mutation_p.S250L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	250						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGGCAAGCCTGAGGAATTCAG	0.507													17	34					0	0	0	0	A	74360219	G	A	74360219	3	1	425	1	0	0	0	0	1	0	0	0	16215	1294	45	2	3486	2	TMEM2	9	74360219	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	1063737	74360219	66853212	69	83926											
CORO2A	7464	broad.mit.edu	37	chr9	100899883	100899883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagaacaggaggcgatctCaaaatcatcaaaagggttcc	15	8	9	9	1	4	1	4	0	1	1	6	3	5	2	1	3	1	1	1	3	5	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:100899883C>G	ENST00000343933.5	-	3	546	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	CORO2A_ENST00000375077.4_Missense_Mutation_p.E97Q	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	97					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGCGATCTCAAAATCATCA	0.542													56	127					0	0	0	0	G	100899883	C	G	100899883	3	3	425	1	0	0	0	0	1	0	0	0	3786	835	29	2	1328	2	CORO2A	9	100899883	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	26539664	100899883	40313548	70	83927											
FBXW2	26190	broad.mit.edu	37	chr9	123540631	123540631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagggcaacccacccGcccccgtgtgcccccgaaag	11	3	10	17	3	0	1	0	1	0	0	0	2	0	1	6	1	2	1	6	1	4	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:123540631G>A	ENST00000373926.3	-	4	870	c.683C>T	c.(682-684)gCg>gTg	p.A228V	FBXW2_ENST00000340778.5_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	228					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CAACCCACCCGCCCCCGTGTG	0.488													6	28					0	0	0	0	A	123540631	G	A	123540631	3	1	425	1	0	0	0	0	1	0	0	0	5811	1087	38	1	701	1	FBXW2	9	123540631	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	22640748	123540631	17672800	71	83928											
TTC16	158248	broad.mit.edu	37	chr9	130479621	130479621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttccccacagctactccaGaggccagcagtgcttggagc	8	8	10	15	0	0	1	0	0	0	1	2	2	2	2	4	2	5	3	4	2	1	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:130479621G>C	ENST00000373289.3	+	3	280	c.200G>C	c.(199-201)aGa>aCa	p.R67T	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	67							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCTACTCCAGAGGCCAGCAG	0.657													7	26					0	0	0	0	C	130479621	G	C	130479621	3	2	425	1	0	0	0	0	1	0	0	0	16779	942	33	2	210	2	TTC16	9	130479621	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	6938990	130479621	10733810	72	83929											
ANKRD30A	91074	broad.mit.edu	37	chr10	37419270	37419270	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagtggtggcaaaactGctgtcccatggtgcagtcat	8	12	12	9	0	2	0	2	0	0	0	3	0	3	0	1	3	3	3	1	3	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:37419270G>T	ENST00000374660.1	+	3	405	c.306G>T	c.(304-306)ctG>ctT	p.L102L	ANKRD30A_ENST00000602533.1_Silent_p.L102L|ANKRD30A_ENST00000361713.1_Silent_p.L102L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	158						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGGCAAAACTGCTGTCCCATG	0.378													14	36					7.93312e-07	8.462e-07	1	0	T	37419270	G	T	37419270	2	4	425	1	0	0	0	0	0	0	0	1	658	1306	46	4		4	ANKRD30A	10	37419270	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		37419270	98115477	73	83930											
GDF10	2662	broad.mit.edu	37	chr10	48438681	48438681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctggggcccgggtccCgggctggtccgagcggggac	4	4	20	13	4	0	0	0	0	0	0	2	2	2	1	3	7	3	3	3	7	0	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:48438681C>T	ENST00000224605.2	-	1	295	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	10					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCCCGGGTCCCGGGCTGGTCC	0.721													10	15					0	0	0	0	T	48438681	C	T	48438681	2	4	425	1	0	0	0	0	0	0	0	1	6362	639	23	1		1	GDF10	10	48438681	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	11019411	48438681	87096066	74	83931											
EGR2	1959	broad.mit.edu	37	chr10	64573021	64573021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggccctccgccaagactGctgctgttactgctgcacag	7	8	11	15	2	0	1	0	0	0	1	1	1	1	1	3	1	6	5	3	1	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:64573021G>A	ENST00000242480.3	-	2	1702	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	EGR2_ENST00000411732.1_Silent_p.S409S|EGR2_ENST00000439032.1_Silent_p.S459S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	459					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGCCAAGACTGCTGCTGTTAC	0.657													42	93					0	0	0	0	A	64573021	G	A	64573021	2	1	425	1	0	0	0	0	0	0	0	1	5008	1310	46	4		4	EGR2	10	64573021	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	16134340	64573021	70961726	75	83932											
UNC5B	219699	broad.mit.edu	37	chr10	73039678	73039678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacaggacgcctacattgtGaagaacaagcctgtggagct	12	7	11	11	1	0	2	0	1	0	1	0	4	0	4	3	2	4	1	3	2	4	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:73039678G>A	ENST00000335350.6	+	2	596	c.180G>A	c.(178-180)gtG>gtA	p.V60V	UNC5B_ENST00000373192.4_Silent_p.V60V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	60	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTACATTGTGAAGAACAAGC	0.622													41	88					0	0	0	0	A	73039678	G	A	73039678	2	1	425	1	0	0	0	0	0	0	0	1	17088	1277	45	2		2	UNC5B	10	73039678	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	8466657	73039678	62495069	76	83933											
GRK5	2869	broad.mit.edu	37	chr10	121086086	121086086	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaatcctgaagttcccTcacattagccagtgtgaaga	15	9	8	9	0	1	4	1	2	0	2	3	4	3	4	3	0	1	1	3	0	5	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:121086086T>A	ENST00000392870.2	+	2	440	c.111T>A	c.(109-111)ccT>ccA	p.P37P		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	37	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGAAGTTCCCTCACATTAGCC	0.562													14	29					0	0	0	0	A	121086086	T	A	121086086	2	1	425	1	0	0	0	0	0	0	0	1	6842	1538	54	5		5	GRK5	10	121086086	Silent	SNP	T	TCGA-HD-A633-01A-11D-A28R-08	48046408	121086086	14448661	77	83934											
BAG3	9531	broad.mit.edu	37	chr10	121411304	121411304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaccggctggcccttcttCgtggaccacaacagccgcac	8	6	10	17	3	1	1	0	0	1	1	2	2	1	2	4	3	2	2	4	3	1	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:121411304C>T	ENST00000369085.3	+	1	423	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	39	WW 1.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGCCCTTCTTCGTGGACCACA	0.706													16	28					0	0	0	0	T	121411304	C	T	121411304	2	4	425	1	0	0	0	0	0	0	0	1	1292	883	31	1		1	BAG3	10	121411304	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	325218	121411304	14123443	78	83935											
MKI67	4288	broad.mit.edu	37	chr10	129904082	129904082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaggacctcttctttcaCacctactttccccaaggata	9	13	6	13	0	3	0	1	0	2	0	4	2	4	2	4	3	1	1	4	3	4	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:129904082C>G	ENST00000368654.3	-	13	6397	c.6022G>C	c.(6022-6024)Gtg>Ctg	p.V2008L	MKI67_ENST00000368653.3_Missense_Mutation_p.V1648L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2008	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTTTCACACCTACTTTC	0.493													83	199					0	0	0	0	G	129904082	C	G	129904082	3	3	425	1	0	0	0	0	1	0	0	0	9667	478	17	4	3760	4	MKI67	10	129904082	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	8492778	129904082	5630665	79	83936											
CYB5R2	51700	broad.mit.edu	37	chr11	7694000	7694000	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttctcaatcaagggcagCgggtacttggcttcagggtc	7	12	12	10	1	4	0	3	0	2	0	6	0	4	0	0	4	2	3	0	4	3	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:7694000C>A	ENST00000533558.1	-	2	613	c.57G>T	c.(55-57)ccG>ccT	p.P19P	CYB5R2_ENST00000299497.9_Silent_p.P19P|CYB5R2_ENST00000524790.1_Silent_p.P19P|CYB5R2_ENST00000299498.6_Silent_p.P19P			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	19	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAGGGCAGCGGGTACTTGG	0.552													9	46					1.08611e-07	1.17815e-07	1	0	A	7694000	C	A	7694000	2	1	425	1	0	0	0	0	0	0	0	1	4159	755	27	3		3	CYB5R2	11	7694000	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08		7694000	127312516	80	83937											
KIF18A	81930	broad.mit.edu	37	chr11	28090877	28090877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagccaattagtattctCatcaaattgcttcaattcct	12	15	5	9	0	3	0	3	0	1	0	5	1	4	1	2	1	2	2	2	1	5	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:28090877C>T	ENST00000263181.6	-	11	1809	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	507					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTAGTATTCTCATCAAATTGC	0.403													11	33					0	0	0	0	T	28090877	C	T	28090877	3	4	425	1	0	0	0	0	1	0	0	0	8331	835	29	2	1205	2	KIF18A	11	28090877	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	20396877	28090877	106915639	81	83938											
SLC22A12	116085	broad.mit.edu	37	chr11	64368958	64368958	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgtgtgcttcctgaacAgggcagtaaagaaggcaaca	12	6	11	12	1	0	2	0	1	0	1	1	2	1	2	3	2	3	4	3	2	5	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:64368958A>T	ENST00000377574.1	+	10	2345		c.e10-1		SLC22A12_ENST00000377567.2_Splice_Site|SLC22A12_ENST00000336464.7_Splice_Site|SLC22A12_ENST00000377572.1_Splice_Site|SLC22A12_ENST00000473690.1_Splice_Site	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTTCCTGAACAGGGCAGTAAA	0.587													4	20					0	0	0	0	T	64368958	A	T	64368958	5	4	425	1	0	0	0	0	0	0	1	0	14531	202	7	5	1635	5	SLC22A12	11	64368958	Splice_Site	SNP	A	TCGA-HD-A633-01A-11D-A28R-08	36278081	64368958	70637558	82	83939											
ACTN3	89	broad.mit.edu	37	chr11	66326839	66326839	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtggagcacattgccgCgctggcccaggagctcaagt	7	6	14	14	4	1	0	1	0	0	0	1	2	1	2	3	3	3	3	3	3	1	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:66326839C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							CACATTGCCGCGCTGGCCCAG	0.736													8	17					0	0	0	0	T	66326839	C	T	66326839	1	4	425	0	1	0	0	0	0	0	0	0	206	768	27	1		1	ACTN3	11	66326839	RNA	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	1957881	66326839	68679677	83	83940											
ANKRD13D	338692	broad.mit.edu	37	chr11	67069025	67069031	+	Frame_Shift_Del	DEL	GCATGGA	GCATGGA	-																															caacgggtacagcgtgctggGcatggagcgcaacgagcccc																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:67069025_67069031delGCATGGA	ENST00000447274.2	+	13	2329_2335	c.1154_1160delGCATGGA	c.(1153-1161)ggfs	p.GME385fs	ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000511455.2_Frame_Shift_Del_p.GME472fs|ANKRD13D_ENST00000515828.1_Frame_Shift_Del_p.GME122fs|ANKRD13D_ENST00000308440.6_Frame_Shift_Del_p.GME385fs|ANKRD13D_ENST00000514166.1_Frame_Shift_Del_p.GME385fs			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	385										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGCGTGCTGGGCATGGAGCGCAACGAG	0.657													16	92	---	---	---	---					-	67069031	GCATGGA	-	67069025	7	5	425	1	0	1	0	1	0	0	0	0	644	1203	42	0	1465	0	ANKRD13D	11	67069025	Frame_Shift_Del	DEL	GCATGGA	TCGA-HD-A633-01A-11D-A28R-08	742186	67069025	67937491	84	83941											
DYNC2H1	79659	broad.mit.edu	37	chr11	103128364	103128364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcctatctccccctggctGagagtgccagcaagatgtac	9	9	10	13	0	1	2	0	1	1	2	2	3	1	2	4	1	4	3	4	1	3	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:103128364G>A	ENST00000375735.2	+	69	10633	c.10489G>A	c.(10489-10491)Gag>Aag	p.E3497K	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E3504K	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3497					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCCCCTGGCTGAGAGTGCCAG	0.438													9	25					0	0	0	0	A	103128364	G	A	103128364	3	1	425	1	0	0	0	0	1	0	0	0	4882	1291	45	2	10788	2	DYNC2H1	11	103128364	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	36059339	103128364	31878152	85	83942											
TECTA	7007	broad.mit.edu	37	chr11	120980009	120980009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagatgggagagccttcgtCgccccattttgggcagatgt	8	10	13	10	2	0	3	0	0	0	3	2	4	0	3	3	2	1	1	3	2	0	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:120980009C>T	ENST00000392793.1	+	4	559	c.288C>T	c.(286-288)gtC>gtT	p.V96V	TECTA_ENST00000264037.2_Silent_p.V96V			O75443	TECTA_HUMAN	tectorin alpha	96					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGCCTTCGTCGCCCCATTTT	0.488													9	35					0	0	0	0	T	120980009	C	T	120980009	2	4	425	1	0	0	0	0	0	0	0	1	15841	871	31	1		1	TECTA	11	120980009	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	17851645	120980009	14026507	86	83943											
OR8B12	219858	broad.mit.edu	37	chr11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttacagatggccacgtagCggtcatacgccatcgctgac	9	8	12	12	4	1	2	1	1	0	1	2	2	1	2	2	3	3	3	2	3	3	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCACGTAGCGGTCATACGC	0.502													23	51					0	0	0	0	T	124413189	C	T	124413189	3	4	425	1	0	0	0	0	1	0	0	0	11297	768	27	1	572	1	OR8B12	11	124413189	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	3433180	124413189	10593327	87	83944											
NOP2	4839	broad.mit.edu	37	chr12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagccggttcaggtattcaGaacgagaccgcccttcctcc	8	9	10	14	3	2	3	2	1	0	2	4	4	4	3	5	2	2	2	5	2	2	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:6672578G>A	ENST00000541778.1	-	8	1267	c.779C>T	c.(778-780)tCt>tTt	p.S260F	NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000542015.1_Intron			P46087	NOP2_HUMAN	NOP2 nucleolar protein	264					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGTATTCAGAACGAGACCG	0.542											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	7					0	0	0	0	A	6672578	G	A	6672578	3	1	425	1	0	0	0	0	1	0	0	0	10608	942	33	2	1683	2	NOP2	12	6672578	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		6672578	127179317	88	83945											
NOP2	4839	broad.mit.edu	37	chr12	6672621	6672621	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagccccaaaatcacgcaGaattcccacaatatcctgga	14	7	6	14	1	1	2	1	1	0	1	3	3	3	3	4	1	1	1	4	1	5	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:6672621G>A	ENST00000541778.1	-	8	1224	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	NOP2_ENST00000399466.2_Silent_p.L246L|NOP2_ENST00000545200.1_Silent_p.L246L|NOP2_ENST00000537442.1_Silent_p.L250L|NOP2_ENST00000322166.5_Silent_p.L250L|NOP2_ENST00000382421.3_Silent_p.L283L|NOP2_ENST00000542015.1_Intron			P46087	NOP2_HUMAN	NOP2 nucleolar protein	250					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AAATCACGCAGAATTCCCACA	0.527											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	15					0	0	0	0	A	6672621	G	A	6672621	2	1	425	1	0	0	0	0	0	0	0	1	10608	933	33	2		2	NOP2	12	6672621	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	43	6672621	127179274	89	83946											
C1RL	51279	broad.mit.edu	37	chr12	7249421	7249421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggggatgctgtgctgcagctCcaggagggcgatgtccccgc	5	7	17	12	2	0	0	0	0	0	0	2	3	2	2	3	4	4	4	3	4	0	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:7249421C>G	ENST00000266542.4	-	6	1122	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	344	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTGCAGCTCCAGGAGGGCG	0.612													29	59					0	0	0	0	G	7249421	C	G	7249421	3	3	425	1	0	0	0	0	1	0	0	0	1992	864	30	2	437	2	C1RL	12	7249421	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	576800	7249421	126602474	90	83947											
CD163	9332	broad.mit.edu	37	chr12	7651747	7651747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attcttccagaacacatattCcctccacgcgtcagcctcat	10	11	4	16	2	3	1	2	0	1	1	6	1	6	1	4	0	2	0	4	0	2	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:7651747C>T	ENST00000359156.4	-	4	697	c.495G>A	c.(493-495)ggG>ggA	p.G165G	CD163_ENST00000432237.2_Silent_p.G165G|CD163_ENST00000541972.1_Silent_p.G153G|CD163_ENST00000396620.3_Silent_p.G165G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	165	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AACACATATTCCCTCCACGCG	0.403													53	149					0	0	0	0	T	7651747	C	T	7651747	2	4	425	1	0	0	0	0	0	0	0	1	2996	842	30	2		2	CD163	12	7651747	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	402326	7651747	126200148	91	83948											
TAS2R8	50836	broad.mit.edu	37	chr12	10959134	10959134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcacaactcagtactattGctgctataaggctgaccaac	14	10	6	11	0	2	1	2	1	0	0	2	1	2	1	1	1	5	4	1	1	7	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:10959134G>T	ENST00000240615.2	-	1	758	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	149					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTACTATTGCTGCTATAAG	0.398													15	37					4.7546e-09	5.27679e-09	1	0	T	10959134	G	T	10959134	3	4	425	1	0	0	0	0	1	0	0	0	15678	1319	46	4	486	4	TAS2R8	12	10959134	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	3307387	10959134	122892761	92	83949											
BIN2	51411	broad.mit.edu	37	chr12	51693066	51693066	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggctttgttgaactcttCctctgcctaggtggtaaaag	7	14	11	9	0	2	1	0	1	2	0	3	1	3	1	2	3	2	3	2	3	4	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:51693066C>A	ENST00000267012.4	-	7	584	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	BIN2_ENST00000544402.1_Nonsense_Mutation_p.E149*|BIN2_ENST00000604560.1_Nonsense_Mutation_p.E148*|BIN2_ENST00000452142.2_Nonsense_Mutation_p.E143*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	175	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTGAACTCTTCCTCTGCCTAG	0.418													23	28					9.86323e-18	1.14772e-17	1	0	A	51693066	C	A	51693066	4	1	425	1	0	0	0	0	0	1	0	0	1438	864	30	2	1202	2	BIN2	12	51693066	Nonsense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	40733932	51693066	82158829	93	83950											
ITGA5	3678	broad.mit.edu	37	chr12	54797556	54797556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccagctgaagttccacTgtgaaacctgaagccaggga	12	7	11	11	0	0	3	0	3	0	0	2	4	2	4	4	1	3	2	4	1	3	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:54797556T>C	ENST00000293379.4	-	17	1890	c.1629A>G	c.(1627-1629)acA>acG	p.T543T	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	543					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			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						GAAGTTCCACTGTGAAACCTG	0.557													28	62					0	0	0	0	C	54797556	T	C	54797556	2	2	425	1	0	0	0	0	0	0	0	1	7932	1567	55	5		5	ITGA5	12	54797556	Silent	SNP	T	TCGA-HD-A633-01A-11D-A28R-08	3104490	54797556	79054339	94	83951											
LRP1	4035	broad.mit.edu	37	chr12	57550690	57550690	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcagcctgggcagtgacggGaagtcatgcaagagtgagtg	10	8	16	7	1	2	3	2	2	0	1	2	4	2	4	1	2	2	2	1	2	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:57550690G>C	ENST00000243077.3	+	10	2014	c.1548G>C	c.(1546-1548)ggG>ggC	p.G516G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	516	EGF-like 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAGTGACGGGAAGTCATGCA	0.657													12	29					0	0	0	0	C	57550690	G	C	57550690	2	2	425	1	0	0	0	0	0	0	0	1	9015	1161	41	2		2	LRP1	12	57550690	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	2753134	57550690	76301205	95	83952											
LRIG3	121227	broad.mit.edu	37	chr12	59282176	59282176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgatggcattttggctGagatgaagttcctgcagcat	8	14	12	7	0	0	3	0	3	0	1	1	4	1	3	1	2	2	6	1	2	1	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:59282176G>A	ENST00000320743.3	-	7	1168	c.882C>T	c.(880-882)ctC>ctT	p.L294L	LRIG3_ENST00000379141.4_Silent_p.L234L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	294						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATTTTGGCTGAGATGAAGTT	0.463			T	ROS1	NSCLC								16	43					0	0	0	0	A	59282176	G	A	59282176	2	1	425	1	0	0	0	0	0	0	0	1	9010	1277	45	2		2	LRIG3	12	59282176	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	1731486	59282176	74569719	96	83953											
IRAK3	11213	broad.mit.edu	37	chr12	66610963	66610963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgtaggagaaaaaaatgCagtgtaagaagcattggaag	19	8	12	2	0	0	2	0	0	0	2	0	4	0	3	0	2	2	4	0	2	8	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:66610963C>A	ENST00000261233.4	+	6	1022	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	IRAK3_ENST00000457197.2_Missense_Mutation_p.Q140K	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	201	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAAAAAAATGCAGTGTAAGAA	0.373													98	229					6.51614e-51	7.91835e-51	1	0	A	66610963	C	A	66610963	3	1	425	1	0	0	0	0	1	0	0	0	7877	711	25	4	623	4	IRAK3	12	66610963	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	7328787	66610963	67240932	97	83954											
GPR12	2835	broad.mit.edu	37	chr13	27333245	27333245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtggtcacatagtgcgaCgtggccaggaagtggtgctg	7	8	18	8	3	1	0	1	0	0	0	1	2	1	1	1	5	2	1	1	5	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:27333245C>T	ENST00000405846.3	-	2	941	c.720G>A	c.(718-720)acG>acA	p.T240T	GPR12_ENST00000381436.2_Silent_p.T240T	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	240						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATAGTGCGACGTGGCCAGGA	0.537													15	17					0	0	0	0	T	27333245	C	T	27333245	2	4	425	1	0	0	0	0	0	0	0	1	6684	523	19	1		1	GPR12	13	27333245	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08		27333245	87836633	98	83955											
TBC1D4	9882	broad.mit.edu	37	chr13	75923344	75923344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgcaaagagtgcatcGggcaggcctcacacagttta	11	9	11	10	1	1	1	1	0	0	1	2	1	1	1	1	2	2	5	1	2	3	3	rs143220834	by1000genomes	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:75923344G>C	ENST00000377636.3	-	5	1716	c.1370C>G	c.(1369-1371)cCg>cGg	p.P457R	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	457	PID 2.					cytoplasm	Rab GTPase activator activity	p.P457R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGAGTGCATCGGGCAGGCCTC	0.478													15	39					0	0	0	0	C	75923344	G	C	75923344	3	2	425	1	0	0	0	0	1	0	0	0	15716	1116	39	3	2594	3	TBC1D4	13	75923344	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	48590099	75923344	39246534	99	83956											
MYCBP2	23077	broad.mit.edu	37	chr13	77650977	77650977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctccagagatgagctttCcaaatacctgatgaagatat	14	11	7	9	0	1	5	0	3	1	2	3	6	2	5	3	0	2	1	3	0	4	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:77650977C>A	ENST00000407578.2	-	68	11998	c.11732G>T	c.(11731-11733)gGa>gTa	p.G3911V	MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3873V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3873V|MYCBP2-AS1_ENST00000450627.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATGAGCTTTCCAAATACCTG	0.378													12	26					0.00185496	0.0018844	1	0	A	77650977	C	A	77650977	3	1	425	1	0	0	0	0	1	0	0	0	10088	855	30	2	2368	2	MYCBP2	13	77650977	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	1727633	77650977	37518901	100	83957											
MYO16	23026	broad.mit.edu	37	chr13	109562362	109562362	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaaccagccagaatttatAcatatttgctagagaaatcc	15	10	5	11	0	0	2	0	0	0	2	1	3	1	2	4	0	4	1	4	0	7	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:109562362A>G	ENST00000356711.2	+	16	1849	c.1723A>G	c.(1723-1725)Aca>Gca	p.T575A	MYO16_ENST00000357550.2_Missense_Mutation_p.T575A|MYO16_ENST00000457511.2_Missense_Mutation_p.T87A|MYO16_ENST00000251041.5_Missense_Mutation_p.T575A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	575	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGAATTTATACATATTTGCT	0.323													28	64					0	0	0	0	G	109562362	A	G	109562362	3	3	425	1	0	0	0	0	1	0	0	0	10134	391	14	5	1781	5	MYO16	13	109562362	Missense_Mutation	SNP	A	TCGA-HD-A633-01A-11D-A28R-08	31911385	109562362	5607516	101	83958											
ZFYVE26	23503	broad.mit.edu	37	chr14	68265002	68265002	+	Frame_Shift_Del	DEL	C	C	-																															aaaaagctgtgcctatgaggCcctgggtaactgtcttttgg																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:68265002delC	ENST00000347230.4	-	11	2115	c.1977delG	c.(1975-1977)ggfs	p.G659fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Del_p.G659fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	659					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCTATGAGGCCCTGGGTAAC	0.488													30	61	---	---	---	---					-	68265002	C	-	68265002	7	5	425	1	0	1	0	1	0	0	0	0	17763	726	26	0	5770	0	ZFYVE26	14	68265002	Frame_Shift_Del	DEL	C	TCGA-HD-A633-01A-11D-A28R-08		68265002	39084538	102	83959											
MAP3K9	4293	broad.mit.edu	37	chr14	71227802	71227802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtccctgccgcactcatCttggtggttcggtgccattc	4	13	10	14	3	2	0	1	0	1	0	5	0	3	0	3	3	3	2	3	3	1	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:71227802C>A	ENST00000554752.2	-	3	917	c.918G>T	c.(916-918)aaG>aaT	p.K306N	MAP3K9_ENST00000555993.2_Missense_Mutation_p.K306N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.K306N|MAP3K9_ENST00000554146.1_Missense_Mutation_p.K43N|MAP3K9_ENST00000553414.1_5'UTR			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	306	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCGCACTCATCTTGGTGGTTC	0.542													35	93					1.08052e-11	1.22757e-11	1	0	A	71227802	C	A	71227802	3	1	425	1	0	0	0	0	1	0	0	0	9326	912	32	2	2482	2	MAP3K9	14	71227802	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	2962800	71227802	36121738	103	83960											
CCDC88C	440193	broad.mit.edu	37	chr14	91804414	91804414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagcgggtcagctccagctCcagcctctccacgcggttcg	5	7	12	17	4	2	0	1	0	1	0	6	0	4	0	4	2	4	4	4	2	0	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:91804414C>G	ENST00000389857.6	-	10	1071	c.985G>C	c.(985-987)Gag>Cag	p.E329Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	329					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCTCCAGCTCCAGCCTCTCC	0.642													19	44					0	0	0	0	G	91804414	C	G	91804414	3	3	425	1	0	0	0	0	1	0	0	0	2892	864	30	2	5185	2	CCDC88C	14	91804414	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	20576612	91804414	15545126	104	83961											
BTBD7	55727	broad.mit.edu	37	chr14	93712182	93712182	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttaccacttgcttctCagatgctgctgctgctgctg	5	15	9	12	0	1	2	1	1	1	1	2	2	1	2	1	0	7	6	1	0	1	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:93712182C>A	ENST00000334746.5	-	10	2879	c.2572G>T	c.(2572-2574)Gag>Tag	p.E858*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.E507*|BTBD7_ENST00000393170.2_Nonsense_Mutation_p.E432*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	858										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTTGCTTCTCAGAtgctgct	0.532													19	41					1.67942e-08	1.85315e-08	1	0	A	93712182	C	A	93712182	4	1	425	1	0	0	0	0	0	1	0	0	1555	835	29	2	834	2	BTBD7	14	93712182	Nonsense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	1907768	93712182	13637358	105	83962											
CASC5	57082	broad.mit.edu	37	chr15	40915630	40915631	+	Frame_Shift_Ins	INS	-	-	C																															gtcctggatttctgaatgaaINScctctatcaagcaaaagtca																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:40915630_40915631insC	ENST00000346991.5	+	11	3636_3637	c.3246_3247insC	c.(3244-3249)gactctfs	p.S1083fs	CASC5_ENST00000399668.2_Frame_Shift_Ins_p.S1057fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1083	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCTGAATGAACCTCTATCAAG	0.351													12	60	---	---	---	---					C	40915631	-	C	40915630	7	5	425	1	0	1	1	0	0	0	0	0	2688	40	2	0	3284	0	CASC5	15	40915630	Frame_Shift_Ins	INS	-	TCGA-HD-A633-01A-11D-A28R-08		40915630	61615762	106	83963											
CASC5	57082	broad.mit.edu	37	chr15	40917336	40917336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagagatgaggaaaataaaaAgtctcataatggagctgaaa	20	8	10	3	0	1	3	1	2	1	1	2	6	1	5	0	2	1	1	0	2	8	3	rs144727202	by1000genomes	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:40917336A>G	ENST00000346991.5	+	11	5342	c.4952A>G	c.(4951-4953)aAg>aGg	p.K1651R	CASC5_ENST00000399668.2_Missense_Mutation_p.K1625R			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1651					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAAAATAAAAAGTCTCATAAT	0.358													36	87					0	0	0	0	G	40917336	A	G	40917336	3	3	425	1	0	0	0	0	1	0	0	0	2688	72	3	5	4990	5	CASC5	15	40917336	Missense_Mutation	SNP	A	TCGA-HD-A633-01A-11D-A28R-08	1706	40917336	61614056	107	83964											
MGA	23269	broad.mit.edu	37	chr15	41988704	41988704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctcgaaaggataaatCttctatgttggcagaattgg	13	12	9	7	1	3	1	0	0	3	1	4	3	3	2	0	3	0	2	0	3	5	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:41988704C>A	ENST00000219905.7	+	3	1677	c.1496C>A	c.(1495-1497)tCt>tAt	p.S499Y	MGA_ENST00000568630.1_3'UTR|MGA_ENST00000566586.1_Missense_Mutation_p.S499Y|MGA_ENST00000389936.4_Missense_Mutation_p.S499Y|MGA_ENST00000545763.1_Missense_Mutation_p.S499Y|MGA_ENST00000570161.1_Missense_Mutation_p.S499Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	499						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			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)		AAGGATAAATCTTCTATGTTG	0.408													17	70					0.00741294	0.00745175	1	0	A	41988704	C	A	41988704	3	1	425	1	0	0	0	0	1	0	0	0	9609	913	32	2	1502	2	MGA	15	41988704	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	1071368	41988704	60542688	108	83965											
MAPKBP1	23005	broad.mit.edu	37	chr15	42117612	42117612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttcgagccgtggaacGgcgtatggaacgcaaactct	9	9	13	10	5	1	0	0	0	1	0	2	3	1	2	1	3	5	4	1	3	4	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:42117612G>A	ENST00000457542.2	+	31	4791	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341Q|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385Q|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1508Q|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225Q	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1508										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCGTGGAACGGCGTATGGAA	0.592													19	28					0	0	0	0	A	42117612	G	A	42117612	3	1	425	1	0	0	0	0	1	0	0	0	9361	1116	39	1	4645	1	MAPKBP1	15	42117612	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	128908	42117612	60413780	109	83966											
MFAP1	4236	broad.mit.edu	37	chr15	44106836	44106836	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacttccatctcttcattTtttctctcctgtgctcgctg	4	19	5	13	1	3	1	1	1	2	0	8	1	5	1	2	0	1	2	2	0	0	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:44106836T>G	ENST00000267812.3	-	4	712	c.480A>C	c.(478-480)aaA>aaC	p.K160N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	160						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTCTTCATTTTTTCTCTCCT	0.458													63	59					0	0	0	0	G	44106836	T	G	44106836	3	3	425	1	0	0	0	0	1	0	0	0	9582	1838	64	5	863	5	MFAP1	15	44106836	Missense_Mutation	SNP	T	TCGA-HD-A633-01A-11D-A28R-08	1989224	44106836	58424556	110	83967											
SLC12A1	6557	broad.mit.edu	37	chr15	48524979	48524979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tattgcaaacttcttcattgGaactgtcattccatccaaca	12	14	4	11	0	3	0	2	0	1	0	5	1	5	1	2	1	4	1	2	1	4	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:48524979G>A	ENST00000396577.3	+	8	1246	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	SLC12A1_ENST00000380993.3_Missense_Mutation_p.G344E|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G344E|SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G344E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	344					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTCTTCATTGGAACTGTCATT	0.343													26	76					0	0	0	0	A	48524979	G	A	48524979	3	1	425	1	0	0	0	0	1	0	0	0	14470	1174	41	2	1157	2	SLC12A1	15	48524979	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	4418143	48524979	54006413	111	83968											
GABPB1	2553	broad.mit.edu	37	chr15	50592997	50592997	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctaacctggagtttctGaagaattggacaatggagca	12	13	10	6	0	2	2	0	1	2	1	2	5	2	5	1	3	2	2	1	3	4	5			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:50592997G>T	ENST00000380877.3	-	6	1109	c.686C>A	c.(685-687)tCa>tAa	p.S229*	GABPB1_ENST00000429662.2_Nonsense_Mutation_p.S241*|GABPB1_ENST00000396464.3_Nonsense_Mutation_p.S229*|GABPB1_ENST00000543881.1_Nonsense_Mutation_p.S165*|GABPB1_ENST00000560825.1_Nonsense_Mutation_p.S229*|GABPB1_ENST00000359031.4_Nonsense_Mutation_p.S229*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.S241*	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	241					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGGAGTTTCTGAAGAATTGGA	0.438													16	42					1.5739e-10	1.76718e-10	1	0	T	50592997	G	T	50592997	4	4	425	1	0	0	0	0	0	1	0	0	6206	1294	45	2	529	2	GABPB1	15	50592997	Nonsense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	2068018	50592997	51938395	112	83969											
DMXL2	23312	broad.mit.edu	37	chr15	51741298	51741298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggatgatgtcaatctgCatgactccagccccaatgtt	9	11	8	13	0	2	2	1	2	1	0	3	3	3	3	4	1	2	2	4	1	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:51741298C>T	ENST00000251076.5	-	43	9281	c.8994G>A	c.(8992-8994)atG>atA	p.M2998I	DMXL2_ENST00000543779.2_Missense_Mutation_p.M2999I|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.M2362I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2998						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGTCAATCTGCATGACTCCAG	0.458													22	99					0	0	0	0	T	51741298	C	T	51741298	3	4	425	1	0	0	0	0	1	0	0	0	4632	710	25	4	120	4	DMXL2	15	51741298	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	1148301	51741298	50790094	113	83970											
CSPG4	1464	broad.mit.edu	37	chr15	75980260	75980260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgggcgtcagcaaagcccGagtcagcatcgctgaaggcc	9	5	14	13	3	2	1	2	1	0	0	3	2	2	1	2	2	3	4	2	2	2	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:75980260G>A	ENST00000308508.5	-	3	3238	c.3146C>T	c.(3145-3147)tCg>tTg	p.S1049L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1049	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGCAAAGCCCGAGTCAGCATC	0.647													39	105					0	0	0	0	A	75980260	G	A	75980260	3	1	425	1	0	0	0	0	1	0	0	0	3992	1059	37	1	3854	1	CSPG4	15	75980260	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	24238962	75980260	26551132	114	83971											
PSTPIP1	9051	broad.mit.edu	37	chr15	77324641	77324641	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctctttcctgccccagctCtacgaggaagtgcggctgac	6	10	11	14	2	2	1	0	1	2	0	3	3	3	2	3	2	5	3	3	2	2	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:77324641C>G	ENST00000558012.1	+	11	1233	c.744C>G	c.(742-744)ctC>ctG	p.L248L	PSTPIP1_ENST00000559295.1_Silent_p.L248L|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Silent_p.L248L|PSTPIP1_ENST00000267939.5_Silent_p.L247L	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	248					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCCCAGCTCTACGAGGAAG	0.667													8	59					0	0	0	0	G	77324641	C	G	77324641	2	3	425	1	0	0	0	0	0	0	0	1	12800	900	32	2		2	PSTPIP1	15	77324641	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	1344381	77324641	25206751	115	83972											
SPSB3	90864	broad.mit.edu	37	chr16	1827827	1827827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatgatggagccctggccGaaccgcgatgagaagctggt	10	6	14	11	3	0	2	0	2	0	1	0	6	0	3	4	3	3	1	4	3	3	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:1827827G>A	ENST00000566339.1	-	6	972	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SPSB3_ENST00000301717.4_Silent_p.F214F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	214	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGCCCTGGCCGAACCGCGATG	0.642													3	36					0	0	0	0	A	1827827	G	A	1827827	2	1	425	1	0	0	0	0	0	0	0	1	15204	1049	37	1		1	SPSB3	16	1827827	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		1827827	88526926	116	83973											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2087943	2087943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaacaagcgcgcgccacaGatggactggaacaggaagcg	13	3	14	11	4	1	1	1	0	0	1	1	4	1	4	1	3	4	0	1	3	4	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:2087943G>C	ENST00000424542.2	+	7	1110	c.972G>C	c.(970-972)caG>caC	p.Q324H	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.Q313H|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.Q213H|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.Q218H	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	324					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GCGCGCCACAGATGGACTGGA	0.642													8	27					0	0	0	0	C	2087943	G	C	2087943	3	2	425	1	0	0	0	0	1	0	0	0	14803	933	33	2	998	2	SLC9A3R2	16	2087943	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	260116	2087943	88266810	117	83974											
THOC6	79228	broad.mit.edu	37	chr16	3076099	3076099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatagcatggtttccaccGatcgacatctgcttagtgct	8	14	8	11	2	2	0	0	0	2	0	4	2	3	0	2	1	3	4	2	1	3	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:3076099G>A	ENST00000326266.8	+	4	552	c.256G>A	c.(256-258)Gat>Aat	p.D86N	THOC6_ENST00000574549.1_Missense_Mutation_p.D62N|THOC6_ENST00000253952.9_Missense_Mutation_p.D86N|THOC6_ENST00000575576.1_Missense_Mutation_p.D62N	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	86					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GGTTTCCACCGATCGACATCT	0.557													66	139					0	0	0	0	A	3076099	G	A	3076099	3	1	425	1	0	0	0	0	1	0	0	0	15963	1058	37	1	270	1	THOC6	16	3076099	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	988156	3076099	87278654	118	83975											
PRPF8	10594	broad.mit.edu	37	chr17	1578550	1578550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagtcaagtcgatcttctCatacatcttctcaaagcggg	11	11	8	11	2	5	1	3	0	4	1	8	2	5	1	0	1	2	0	0	1	3	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:1578550C>G	ENST00000572621.1	-	19	3221	c.2956G>C	c.(2956-2958)Gag>Cag	p.E986Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.E986Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	986						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCGATCTTCTCATACATCTTC	0.517													17	37					0	0	0	0	G	1578550	C	G	1578550	3	3	425	1	0	0	0	0	1	0	0	0	12655	835	29	2	4147	2	PRPF8	17	1578550	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08		1578550	79616660	119	83976											
NLGN2	57555	broad.mit.edu	37	chr17	7320905	7320905	+	Frame_Shift_Del	DEL	C	C	-																															gaggctctgcgccctgcctgCccgcccgactacaccctggc																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7320905delC	ENST00000302926.2	+	7	2368	c.2295delC	c.(2293-2295)tgfs	p.C765fs	NLGN2_ENST00000575301.1_Frame_Shift_Del_p.C765fs	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	765					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCCCTGCCTGCCCGCCCGACT	0.751													2	4	---	---	---	---					-	7320905	C	-	7320905	7	5	425	1	0	1	0	1	0	0	0	0	10532	747	26	0	2321	0	NLGN2	17	7320905	Frame_Shift_Del	DEL	C	TCGA-HD-A633-01A-11D-A28R-08	5742355	7320905	73874305	120	83977											
TP53	7157	broad.mit.edu	37	chr17	7573984	7573984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcatccttgagttccAaggcctcattcagctctcgg	6	11	10	14	1	3	1	2	1	1	0	6	1	5	1	4	3	1	3	4	3	1	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7573984A>G	ENST00000269305.4	-	10	1232	c.1043T>C	c.(1042-1044)tTg>tCg	p.L348S	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.L348S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	348	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		L -> F (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L348*(2)|p.I332fs*5(1)|p.?(1)|p.L348fs*1(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)		CTTGAGTTCCAAGGCCTCATT	0.592		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)			10	36					0	0	0	0	G	7573984	A	G	7573984	3	3	425	1	0	0	0	0	1	0	0	0	16476	131	5	5	146	5	TP53	17	7573984	Missense_Mutation	SNP	A	TCGA-HD-A633-01A-11D-A28R-08	253079	7573984	73621226	121	83978											
TP53	7157	broad.mit.edu	37	chr17	7577503	7577503	+	Frame_Shift_Del	DEL	A	A	-																															gcaagtggctcctgacctggAgtcttccagtgtgatgatgg																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7577503delA	ENST00000420246.2	-	7	910	c.778delT	c.(778-780)ccfs	p.S261fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S260fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S261fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S261fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	261	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S260fs*85(2)|p.S260A(2)|p.S260fs*3(2)|p.?(1)|p.E258fs*85(1)|p.S260P(1)|p.E258fs*71(1)|p.S260_S261delSS(1)|p.S260fs*4(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.S260del(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)		CCTGACCTGGAGTCTTCCAGT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	46	---	---	---	---					-	7577503	A	-	7577503	7	5	425	1	0	1	0	1	0	0	0	0	16476	304	11	0	512	0	TP53	17	7577503	Frame_Shift_Del	DEL	A	TCGA-HD-A633-01A-11D-A28R-08	3519	7577503	73617707	122	83979											
DNAH9	1770	broad.mit.edu	37	chr17	11833298	11833298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagccagcaccctcccCtgagggccacatcatccccc	8	5	8	20	0	1	2	1	1	0	1	3	2	3	2	7	1	3	2	7	1	0	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:11833298C>A	ENST00000262442.3	+	63	12061	c.11993C>A	c.(11992-11994)cCt>cAt	p.P3998H	DNAH9_ENST00000396001.2_Missense_Mutation_p.P310H|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3998	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCACCCTCCCCTGAGGGCCAC	0.602													13	27					0.00010058	0.000105526	1	0	A	11833298	C	A	11833298	3	1	425	1	0	0	0	0	1	0	0	0	4644	681	24	4	12243	4	DNAH9	17	11833298	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	4255795	11833298	69361912	123	83980											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825682	40825682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctccttacgcctgcgctCtgggccggtcaccgagcaca	5	9	11	16	4	3	0	1	0	2	0	4	1	3	0	4	2	3	2	4	2	1	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:40825682C>G	ENST00000293349.6	-	4	899	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	PLEKHH3_ENST00000591022.1_Missense_Mutation_p.E157Q|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E157Q			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	157	PH.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGCCTGCGCTCTGGGCCGGTC	0.672													29	53					0	0	0	0	G	40825682	C	G	40825682	3	3	425	1	0	0	0	0	1	0	0	0	12150	922	32	2	1952	2	PLEKHH3	17	40825682	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	28992384	40825682	40369528	124	83981											
VPS25	84313	broad.mit.edu	37	chr17	40925508	40925508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actacgatggcgatgagtttCgagtggccgtggcagtatcg	8	10	15	8	5	0	1	0	1	0	0	2	4	0	1	1	3	1	3	1	3	2	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:40925508C>T	ENST00000253794.2	+	1	55	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	5					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CGATGAGTTTCGAGTGGCCGT	0.622													47	105					0	0	0	0	T	40925508	C	T	40925508	2	4	425	1	0	0	0	0	0	0	0	1	17292	883	31	1		1	VPS25	17	40925508	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	99826	40925508	40269702	125	83982											
SLC4A1	6521	broad.mit.edu	37	chr17	42334906	42334906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactctagaccgttggtctCgcagaactgcagggtggtca	8	10	13	10	2	3	2	1	0	2	2	4	2	3	2	1	3	3	4	1	3	3	3	rs121912756		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:42334906C>T	ENST00000262418.6	-	13	1593	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	480	Membrane (anion exchange).		E -> K (in FR(a+) antigen).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCGTTGGTCTCGCAGAACTGC	0.607													20	39					0	0	0	0	T	42334906	C	T	42334906	3	4	425	1	0	0	0	0	1	0	0	0	14738	893	31	1	1329	1	SLC4A1	17	42334906	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	1409398	42334906	38860304	126	83983											
SLC4A1	6521	broad.mit.edu	37	chr17	42335044	42335044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccgagaagaaggcttcctCaaacaccagcaggggtcctg	12	6	11	12	1	1	2	1	0	0	2	3	3	3	2	4	3	3	2	4	3	4	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:42335044C>T	ENST00000262418.6	-	12	1569	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	472	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGGCTTCCTCAAACACCAGC	0.612													18	19					0	0	0	0	T	42335044	C	T	42335044	3	4	425	1	0	0	0	0	1	0	0	0	14738	835	29	2	1357	2	SLC4A1	17	42335044	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	138	42335044	38860166	127	83984											
SPAG9	9043	broad.mit.edu	37	chr17	49059980	49059980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcatgcaacggatggaatGatgaggccgtccaaggtcta	12	8	13	8	2	2	2	1	2	1	0	3	4	3	4	2	4	2	1	2	4	4	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:49059980G>A	ENST00000262013.7	-	25	3350	c.3142C>T	c.(3142-3144)Cat>Tat	p.H1048Y	SPAG9_ENST00000510283.1_Missense_Mutation_p.H891Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.H1034Y|SPAG9_ENST00000505279.1_Missense_Mutation_p.H1038Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1048					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CGGATGGAATGATGAGGCCGT	0.413													4	106					0	0	0	0	A	49059980	G	A	49059980	3	1	425	1	0	0	0	0	1	0	0	0	15075	1290	45	2	847	2	SPAG9	17	49059980	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	6724936	49059980	32135230	128	83985											
MRC2	9902	broad.mit.edu	37	chr17	60766302	60766302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggaggagacccatggcttCatctgccagaagggcacggg	10	5	15	11	2	2	2	1	0	1	2	2	4	2	3	2	5	1	2	2	5	1	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:60766302C>T	ENST00000446119.2	+	5	1171	c.152C>T	c.(151-153)tCa>tTa	p.S51L	MRC2_ENST00000303375.5_Silent_p.F1105F|MRC2_ENST00000580916.1_3'UTR			Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1185	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCATGGCTTCATCTGCCAGA	0.657													11	22					0	0	0	0	T	60766302	C	T	60766302	3	4	425	1	0	0	0	0	1	0	0	0	9828	825	29	2	3405	2	MRC2	17	60766302	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	11706322	60766302	20428908	129	83986											
SLC39A11	201266	broad.mit.edu	37	chr17	70645094	70645094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaccatgccgctcagctgCccatacctaaggagagaaca	12	6	8	15	1	1	1	1	0	0	1	2	3	2	2	5	1	5	2	5	1	3	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:70645094C>T	ENST00000542342.2	-	9	886	c.798G>A	c.(796-798)ggG>ggA	p.G266G	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.G259G	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	266					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGCTCAGCTGCCCATACCTAA	0.622													7	14					0	0	0	0	T	70645094	C	T	70645094	2	4	425	1	0	0	0	0	0	0	0	1	14702	726	26	4		4	SLC39A11	17	70645094	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	9878792	70645094	10550116	130	83987											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282441	71282441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgaagaagagggctgttCgtccaaggactcgccgtcgg	10	7	15	9	4	0	4	0	1	0	3	4	5	1	5	2	3	0	2	2	3	3	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:71282441C>T	ENST00000335793.3	-	2	593	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	CDC42EP4_ENST00000439510.2_Intron|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	67					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAGGGCTGTTCGTCCAAGGAC	0.642													32	74					0	0	0	0	T	71282441	C	T	71282441	3	4	425	1	0	0	0	0	1	0	0	0	3107	893	31	1	875	1	CDC42EP4	17	71282441	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	637347	71282441	9912769	131	83988											
BAHCC1	57597	broad.mit.edu	37	chr17	79427630	79427630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtatccagtgaggcacccCcgcctagtgaagccgccacc	9	5	11	16	2	0	2	0	2	0	0	1	2	1	2	7	2	1	2	7	2	3	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:79427630C>T	ENST00000307745.7	+	29	6100	c.6100C>T	c.(6100-6102)Ccg>Tcg	p.P2034S																								TGAGGCACCCCCGCCTAGTGA	0.592													6	13					0	0	0	0	T	79427630	C	T	79427630	3	4	425	1	0	0	0	0	1	0	0	0	1300	623	22	4	6029	4	BAHCC1	17	79427630	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	8145189	79427630	1767580	132	83989											
ZNF521	25925	broad.mit.edu	37	chr18	22804708	22804708	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacagtttttggacgtgctgGccccgccctgtggtctgaac	5	12	12	12	2	1	1	0	1	1	0	1	2	1	2	3	3	3	2	3	3	2	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr18:22804708G>T	ENST00000361524.3	-	4	3322	c.3174C>A	c.(3172-3174)ggC>ggA	p.G1058G	ZNF521_ENST00000584787.1_Silent_p.G838G|ZNF521_ENST00000538137.2_Silent_p.G1058G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1058					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGACGTGCTGGCCCCGCCCTG	0.502			T	PAX5	ALL								15	33					1.05317e-09	1.17563e-09	1	0	T	22804708	G	T	22804708	2	4	425	1	0	0	0	0	0	0	0	1	18060	1190	42	4		4	ZNF521	18	22804708	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		22804708	55272540	133	83990											
DSG4	147409	broad.mit.edu	37	chr18	28980884	28980884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcagctggttaaaaattGattcaagaactggtgagata	15	10	11	5	0	1	3	1	2	0	2	1	4	1	3	0	3	2	3	0	3	6	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr18:28980884G>C	ENST00000359747.4	+	10	1347	c.1318G>C	c.(1318-1320)Gat>Cat	p.D440H	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D440H	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	440	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAAAAATTGATTCAAGAAC	0.308													23	42					0	0	0	0	C	28980884	G	C	28980884	3	2	425	1	0	0	0	0	1	0	0	0	4815	1290	45	2	1356	2	DSG4	18	28980884	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	6176176	28980884	49096364	134	83991											
KEAP1	9817	broad.mit.edu	37	chr19	10600019	10600019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatagcccccagcagcataGatacagttgtgcaggacgca	12	7	10	12	1	1	1	1	0	0	1	1	2	1	2	2	1	5	5	2	1	3	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:10600019G>C	ENST00000171111.5	-	5	2104	c.1557C>G	c.(1555-1557)atC>atG	p.I519M	KEAP1_ENST00000393623.2_Missense_Mutation_p.I519M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CAGCAGCATAGATACAGTTGT	0.577													9	42					0	0	0	0	C	10600019	G	C	10600019	3	2	425	1	0	0	0	0	1	0	0	0	8193	932	33	2	325	2	KEAP1	19	10600019	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		10600019	48528964	135	83992											
SMARCA4	6597	broad.mit.edu	37	chr19	11143985	11143985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacctgcaagcgcaggaccGagcccaccgcatcgggcagc	9	2	14	16	4	0	0	0	0	0	0	1	3	0	2	4	3	4	4	4	3	1	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:11143985G>A	ENST00000358026.2	+	26	3850	c.3566G>A	c.(3565-3567)cGa>cAa	p.R1189Q	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1189	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1189Q(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGCAGGACCGAGCCCACCGC	0.612			"F, N, Mis"		NSCLC								43	70					0	0	0	0	A	11143985	G	A	11143985	3	1	425	1	0	0	0	0	1	0	0	0	14858	1058	37	1	3664	1	SMARCA4	19	11143985	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	543966	11143985	47984998	136	83993											
OR10H1	26539	broad.mit.edu	37	chr19	15918304	15918304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccaacttcaacagaggtgGcacatggcaagcaaaatggt	14	6	12	9	0	1	1	1	0	0	1	1	1	1	1	1	5	3	3	1	5	5	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:15918304G>A	ENST00000334920.2	-	1	632	c.544C>T	c.(544-546)Cca>Tca	p.P182S		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AACAGAGGTGGCACATGGCAA	0.577													22	70					0	0	0	0	A	15918304	G	A	15918304	3	1	425	1	0	0	0	0	1	0	0	0	10976	1203	42	4	416	4	OR10H1	19	15918304	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	4774319	15918304	43210679	137	83994											
CPAMD8	27151	broad.mit.edu	37	chr19	17017783	17017783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcatgatggccaggctacGgagcttgcgcagtgcctcag	7	8	14	12	3	1	1	1	1	0	0	2	2	1	2	2	3	4	4	2	3	1	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:17017783G>A	ENST00000443236.1	-	30	4178	c.4147C>T	c.(4147-4149)Cgt>Tgt	p.R1383C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1336						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCAGGCTACGGAGCTTGCGC	0.637													6	10					0	0	0	0	A	17017783	G	A	17017783	3	1	425	1	0	0	0	0	1	0	0	0	3825	1116	39	1	1703	1	CPAMD8	19	17017783	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	1099479	17017783	42111200	138	83995											
NPAS1	4861	broad.mit.edu	37	chr19	47548510	47548510	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaacgaggccccccagacCcagggcaaacgcatcaaagt	14	2	11	14	2	1	2	1	0	0	2	1	4	1	2	4	2	2	2	4	2	3	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:47548510C>A	ENST00000602212.1	+	12	1594	c.1374C>A	c.(1372-1374)acC>acA	p.T458T	NPAS1_ENST00000602189.1_Silent_p.T283T|NPAS1_ENST00000439365.2_3'UTR|NPAS1_ENST00000449844.2_Silent_p.T458T			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	458					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCCCCCAGACCCAGGGCAAAC	0.672													16	45					3.32936e-07	3.57116e-07	1	0	A	47548510	C	A	47548510	2	1	425	1	0	0	0	0	0	0	0	1	10632	610	22	4		4	NPAS1	19	47548510	Silent	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	30530727	47548510	11580473	139	83996											
NAPSA	9476	broad.mit.edu	37	chr19	50861832	50861832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccggggaactgcgcctgcGcagtctctccccatccgagg	6	6	12	17	4	1	0	0	0	1	0	4	2	3	1	5	3	3	1	5	3	1	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:50861832G>A	ENST00000253719.2	-	9	1449	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	414					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CTGCGCCTGCGCAGTCTCTCC	0.662													10	21					0	0	0	0	A	50861832	G	A	50861832	3	1	425	1	0	0	0	0	1	0	0	0	10236	1087	38	1	25	1	NAPSA	19	50861832	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	3313322	50861832	8267151	140	83997											
SHANK1	50944	broad.mit.edu	37	chr19	51201115	51201115	+	Nonsense_Mutation	SNP	G	G	A																															attaccttgcttgctctcctGagagcgattcgccacttctt																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51201115G>A	ENST00000293441.1	-	12	1864	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	SHANK1_ENST00000391814.1_Nonsense_Mutation_p.Q616*|SHANK1_ENST00000359082.3_Nonsense_Mutation_p.Q616*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	616					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTGCTCTCCTGAGAGCGATTC	0.567													9	33					0	0	0	0	A	51201115	G	A	51201115	4	1	425	1	0	0	0	0	0	1	0	0	14352	1299	45	2	4687	2	SHANK1	19	51201115	Nonsense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	339283	51201115	7927868	141	83998	1056	2									
SHANK1	50944	broad.mit.edu	37	chr19	51201121	51201121	+	Missense_Mutation	SNP	G	G	A																															ttgcttgctctcctgagagcGattcgccacttcttccaggc																										TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51201121G>A	ENST00000293441.1	-	12	1858	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	SHANK1_ENST00000391814.1_Missense_Mutation_p.R614C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R614C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	614					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.R614C(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCTGAGAGCGATTCGCCACT	0.572													7	35					0	0	0	0	A	51201121	G	A	51201121	3	1	425	1	0	0	0	0	1	0	0	0	14352	1058	37	1	4693	1	SHANK1	19	51201121	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	6	51201121	7927862	142	83999	1056	2									
KLK3	354	broad.mit.edu	37	chr19	51359642	51359642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggtcctcacagctgccCactgcatcaggaagtgagta	10	8	12	11	0	2	1	2	1	0	0	3	2	3	2	2	2	3	3	2	2	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51359642C>A	ENST00000360617.3	+	2	193	c.193C>A	c.(193-195)Cac>Aac	p.H65N	KLK3_ENST00000595952.1_Missense_Mutation_p.H65N|KLK3_ENST00000593997.1_Missense_Mutation_p.H65N|KLK3_ENST00000326003.2_Missense_Mutation_p.H65N|KLK3_ENST00000597483.1_Missense_Mutation_p.H65N			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	65	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACAGCTGCCCACTGCATCAG	0.612													30	86					3.65163e-15	4.17329e-15	1	0	A	51359642	C	A	51359642	3	1	425	1	0	0	0	0	1	0	0	0	8457	594	21	4	199	4	KLK3	19	51359642	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	158521	51359642	7769341	143	84000											
ZNF615	284370	broad.mit.edu	37	chr19	52497170	52497170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttgctgatgtgtgataaGactgttcttcaaggtgaagc	10	14	12	5	0	2	4	1	3	1	1	2	4	2	4	0	1	2	3	0	1	3	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:52497170G>C	ENST00000602063.1	-	6	1508	c.1159C>G	c.(1159-1161)Ctt>Gtt	p.L387V	ZNF615_ENST00000598071.1_Missense_Mutation_p.L398V|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387V|ZNF615_ENST00000391795.3_Missense_Mutation_p.L392V|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGATAAGACTGTTCTTC	0.398													16	45					0	0	0	0	C	52497170	G	C	52497170	3	2	425	1	0	0	0	0	1	0	0	0	18135	942	33	2	1040	2	ZNF615	19	52497170	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	1137528	52497170	6631813	144	84001											
ZNF586	54807	broad.mit.edu	37	chr19	58290907	58290907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatactggagaaaggcatGagtgcgggcagtgtgggaaa	12	8	16	5	1	1	2	1	1	0	1	1	4	1	3	0	4	2	2	0	4	3	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:58290907G>A	ENST00000391702.3	+	4	1190	c.823G>A	c.(823-825)Gag>Aag	p.E275K	ZNF586_ENST00000396154.2_Missense_Mutation_p.E318K|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000598183.1_Intron	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAGGCATGAGTGCGGGCA	0.453													29	48					0	0	0	0	A	58290907	G	A	58290907	3	1	425	1	0	0	0	0	1	0	0	0	18114	1291	45	2	962	2	ZNF586	19	58290907	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	5793737	58290907	838076	145	84002											
LRRN4	164312	broad.mit.edu	37	chr20	6031435	6031435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcacttacttctggaacaGaaggacctgtagatgtggag	13	9	12	7	0	1	2	0	0	1	2	1	5	1	5	1	3	3	2	1	3	5	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:6031435G>A	ENST00000378858.4	-	3	1074	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	284						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TTCTGGAACAGAAGGACCTGT	0.458													38	94					0	0	0	0	A	6031435	G	A	6031435	2	1	425	1	0	0	0	0	0	0	0	1	9101	933	33	2		2	LRRN4	20	6031435	Silent	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		6031435	56994085	146	84003											
CTCFL	140690	broad.mit.edu	37	chr20	56098196	56098196	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctgtaggttgatcctCttgttcttccacatttgaat	8	16	7	10	0	2	2	0	2	2	0	4	2	4	2	3	1	1	4	3	1	2	6			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:56098196C>A	ENST00000426658.2	-	2	1343	c.682G>T	c.(682-684)Gag>Tag	p.E228*	CTCFL_ENST00000371196.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.E23*|CTCFL_ENST00000429804.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000432255.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000423479.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.E228*|CTCFL_ENST00000422109.2_Nonsense_Mutation_p.E228*			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	228					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTTGATCCTCTTGTTCTTCC	0.388													32	49					1.30897e-18	1.53245e-18	1	0	A	56098196	C	A	56098196	4	1	425	1	0	0	0	0	0	1	0	0	4033	922	32	2	1345	2	CTCFL	20	56098196	Nonsense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08	50066761	56098196	6927324	147	84004											
COL9A3	1299	broad.mit.edu	37	chr20	61461171	61461171	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggccaccggggctcagcGgtgagtgcagggacatggcc	6	5	18	12	2	1	1	1	1	0	0	1	2	1	2	3	6	2	3	3	6	0	0			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:61461171G>A	ENST00000343916.3	+	22	1164	c.1161_splice	c.e22+1	p.A387_splice		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	387	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGGCTCAGCGGTGAGTGCAG	0.657													4	5					0	0	0	0	A	61461171	G	A	61461171	5	1	425	1	0	0	0	0	0	0	1	0	3739	1130	39	1	1247	1	COL9A3	20	61461171	Splice_Site	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	5362975	61461171	1564349	148	84005											
ZNF280A	129025	broad.mit.edu	37	chr22	22868570	22868570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctatttcctccttcaacGtcaaaaactgtagccggcac	10	11	6	14	2	3	0	2	0	1	0	5	0	5	0	3	1	3	3	3	1	5	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr22:22868570G>C	ENST00000302097.3	-	2	1637	c.1385C>G	c.(1384-1386)aCg>aGg	p.T462R		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T462M(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTCCTTCAACGTCAAAAACTG	0.423													35	27					0	0	0	0	C	22868570	G	C	22868570	3	2	425	1	0	0	0	0	1	0	0	0	17909	1145	40	3	247	3	ZNF280A	22	22868570	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08		22868570	28435996	149	84006											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620989	41620989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtacgagcagtctacacaGaaggcggttggtttgaggaa	12	8	15	6	2	1	2	0	1	1	1	1	4	1	3	0	5	3	4	0	5	4	4			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr22:41620989G>C	ENST00000216237.5	+	11	1428	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	424					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTCTACACAGAAGGCGGTTG	0.592													30	41					0	0	0	0	C	41620989	G	C	41620989	3	2	425	1	0	0	0	0	1	0	0	0	8645	943	33	2	1312	2	L3MBTL2	22	41620989	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	18752419	41620989	9683577	150	84007											
FAM47A	158724	broad.mit.edu	37	chrX	34149314	34149314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggcgctaggcggagaCgggacactccagtctcggaa	9	5	17	10	4	1	1	0	0	1	1	3	5	2	4	1	6	0	1	1	6	2	1			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647													26	19					0	0	0	0	T	34149314	C	T	34149314	3	4	425	1	0	0	0	0	1	0	0	0	5616	536	19	1	1297	1	FAM47A	23	34149314	Missense_Mutation	SNP	C	TCGA-HD-A633-01A-11D-A28R-08		34149314	121121246	151	84008											
USP11	8237	broad.mit.edu	37	chrX	47104856	47104856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgagctcttcaccactgtgGagaccctggagaaggaaaac	12	8	11	10	0	2	3	1	1	1	2	2	6	2	4	2	3	2	1	2	3	3	2			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:47104856G>A	ENST00000377107.2	+	17	2599	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	USP11_ENST00000218348.3_Missense_Mutation_p.E792K			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	792					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CACCACTGTGGAGACCCTGGA	0.532													9	16					0	0	0	0	A	47104856	G	A	47104856	3	1	425	1	0	0	0	0	1	0	0	0	17138	1175	41	2	2440	2	USP11	23	47104856	Missense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	12955542	47104856	108165704	152	84009											
GPR112	139378	broad.mit.edu	37	chrX	135431791	135431791	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgttaagcacacatttGagaaaatgaccacatctgta	15	10	7	9	1	1	3	0	3	1	1	1	4	1	3	1	0	1	3	1	0	4	3			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:135431791G>T	ENST00000394143.1	+	6	6217	c.5926G>T	c.(5926-5928)Gag>Tag	p.E1976*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E1976*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.E1913*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1976					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCACACATTTGAGAAAATGAC	0.428													41	16					3.09479e-21	3.69068e-21	1	0	T	135431791	G	T	135431791	4	4	425	1	0	0	0	0	0	1	0	0	6678	1291	45	2	5936	2	GPR112	23	135431791	Nonsense_Mutation	SNP	G	TCGA-HD-A633-01A-11D-A28R-08	88326935	135431791	19838769	153	84010											
MFSD2A	84879	broad.mit.edu	37	chr1	40421045	40421045	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaagcactgaacgcccGgcccaggtgaaggtgagggc	10	4	14	13	2	0	3	0	3	0	0	1	3	1	3	3	4	2	1	3	4	3	0			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:40421045G>T	ENST00000372809.5	+	1	224	c.81G>T	c.(79-81)ccG>ccT	p.P27P	MFSD2A_ENST00000420632.2_5'UTR|MFSD2A_ENST00000372811.5_Silent_p.P27P	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	27					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTGAACGCCCGGCCCAGGTGA	0.731													8	16					2.17888e-05	2.37113e-05	1	0	T	40421045	G	T	40421045	2	4	426	1	0	0	0	0	0	0	0	1	9599	1103	39	3		3	MFSD2A	1	40421045	Silent	SNP	G	TCGA-HD-A634-01A-11D-A28R-08		40421045	208829576	1	84011											
FOXJ3	22887	broad.mit.edu	37	chr1	42660617	42660617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctccgaaatgaggcaCtaagatcttcaaaattatat	17	10	7	7	1	2	2	1	1	1	1	3	3	3	2	1	2	0	2	1	2	7	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:42660617C>A	ENST00000372572.1	-	10	1189	c.878G>T	c.(877-879)aGt>aTt	p.S293I	FOXJ3_ENST00000372573.1_Missense_Mutation_p.S293I|FOXJ3_ENST00000361346.1_Missense_Mutation_p.S293I|FOXJ3_ENST00000361776.1_Missense_Mutation_p.S259I|FOXJ3_ENST00000545068.1_Missense_Mutation_p.S293I	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	293					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAATGAGGCACTAAGATCTTC	0.348													70	116					1.64915e-30	2.06843e-30	1	0	A	42660617	C	A	42660617	3	1	426	1	0	0	0	0	1	0	0	0	6060	565	20	4	1014	4	FOXJ3	1	42660617	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	2239572	42660617	206590004	2	84012											
UBE2Q1	55585	broad.mit.edu	37	chr1	154527222	154527222	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcctacctcaggcatctCctcatcttcatcttctgaag	9	12	5	15	0	7	1	3	1	4	0	8	1	7	1	3	1	2	1	3	1	3	3			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:154527222C>A	ENST00000292211.4	-	4	656	c.577G>T	c.(577-579)Gag>Tag	p.E193*	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	193							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGGCATCTCCTCATCTTCA	0.527													13	12					0.000151284	0.000159929	1	0	A	154527222	C	A	154527222	4	1	426	1	0	0	0	0	0	1	0	0	16965	864	30	2	731	2	UBE2Q1	1	154527222	Nonsense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	111866605	154527222	94723399	3	84013											
SERPINC1	462	broad.mit.edu	37	chr1	173873136	173873136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttgaaagtcaccctgttgGggtttagcgaacggccagca	9	9	12	11	2	1	1	1	1	0	0	1	2	1	1	3	3	3	3	3	3	3	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:173873136G>A	ENST00000367698.3	-	7	1404	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	429					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CACCCTGTTGGGGTTTAGCGA	0.458													43	57					0	0	0	0	A	173873136	G	A	173873136	3	1	426	1	0	0	0	0	1	0	0	0	14196	1232	43	4	112	4	SERPINC1	1	173873136	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	19345914	173873136	75377485	4	84014											
PLA2G4A	5321	broad.mit.edu	37	chr1	186823502	186823502	+	Frame_Shift_Del	DEL	C	C	-																															ccaaaatgtcatttatagatCcttaccagcacattatagta																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:186823502delC	ENST00000367466.3	+	2	168	c.16delC	c.(16-18)ctfs	p.P6fs	PLA2G4A_ENST00000442353.2_Frame_Shift_Del_p.P6fs|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	6	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATTTATAGATCCTTACCAGCA	0.343													29	34	---	---	---	---					-	186823502	C	-	186823502	7	5	426	1	0	1	0	1	0	0	0	0	12073	855	30	0	18	0	PLA2G4A	1	186823502	Frame_Shift_Del	DEL	C	TCGA-HD-A634-01A-11D-A28R-08	12950366	186823502	62427119	5	84015											
USH2A	7399	broad.mit.edu	37	chr1	216258155	216258155	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggttcccaaatagctgaCggattgtaattcttcataaa	14	12	8	7	1	2	2	1	1	1	1	3	3	3	3	1	2	1	3	1	2	5	7			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:216258155C>T	ENST00000366943.2	-	25	5438	c.5052G>A	c.(5050-5052)ccG>ccA	p.P1684P	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.P1684P|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1684	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAATAGCTGACGGATTGTAAT	0.393										HNSCC(13;0.011)			15	77					0	0	0	0	T	216258155	C	T	216258155	2	4	426	1	0	0	0	0	0	0	0	1	17132	523	19	1		1	USH2A	1	216258155	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	29434653	216258155	32992466	6	84016											
SUSD4	55061	broad.mit.edu	37	chr1	223396790	223396790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtgtcccctgagccGgggtatgctggggggctctg	2	10	18	11	2	1	1	0	1	1	0	3	1	3	1	4	5	2	3	4	5	1	1			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:223396790G>A	ENST00000343846.3	-	7	1878	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Silent_p.P255P|SUSD4_ENST00000366878.4_Silent_p.P415P			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	415						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CCCCTGAGCCGGGGTATGCTG	0.637													11	29					0	0	0	0	A	223396790	G	A	223396790	2	1	426	1	0	0	0	0	0	0	0	1	15500	1103	39	1		1	SUSD4	1	223396790	Silent	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	7138635	223396790	25853831	7	84017											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228645862	228645862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaaatcggctcctgcgcCcaagaagggttctaaaaagg	12	7	11	11	2	1	1	0	0	1	1	4	1	3	1	3	3	1	2	3	3	6	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:228645862C>T	ENST00000369160.2	+	1	55	c.32C>T	c.(31-33)cCc>cTc	p.P11L		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	11					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				GCTCCTGCGCCCAAGAAGGGT	0.527													46	69					0	0	0	0	T	228645862	C	T	228645862	3	4	426	1	0	0	0	0	1	0	0	0	7233	623	22	4	34	4	HIST3H2BB	1	228645862	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	5249072	228645862	20604759	8	84018											
OR13G1	441933	broad.mit.edu	37	chr1	247835701	247835701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaacaatgataaaaccatAggagatgcaggtaagaataa	21	6	9	5	0	0	3	0	1	0	2	0	4	0	3	1	2	4	3	1	2	8	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr1:247835701A>T	ENST00000359688.2	-	1	664	c.643T>A	c.(643-645)Tat>Aat	p.Y215N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			ATAAAACCATAGGAGATGCAG	0.458													29	45					0	0	0	0	T	247835701	A	T	247835701	3	4	426	1	0	0	0	0	1	0	0	0	11013	420	15	5	284	5	OR13G1	1	247835701	Missense_Mutation	SNP	A	TCGA-HD-A634-01A-11D-A28R-08	19189839	247835701	1414920	9	84019											
GFPT1	2673	broad.mit.edu	37	chr2	69614196	69614196	+	Splice_Site	DEL	C	C	-																															ccccgctcccggcccccttaCcacacatgatgccggagaca																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr2:69614196delC	ENST00000357308.4	-	1	186		c.e1+1		GFPT1_ENST00000361060.4_Splice_Site|GFPT1_ENST00000494201.1_Splice_Site	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GGCCCCCTTACCACACATGAT	0.736													2	4	---	---	---	---					-	69614196	C	-	69614196	8	5	426	1	0	1	0	1	0	0	1	0	6396	521	18	0	2113	0	GFPT1	2	69614196	Splice_Site	DEL	C	TCGA-HD-A634-01A-11D-A28R-08		69614196	173585177	10	84020											
LRP1B	53353	broad.mit.edu	37	chr2	141093256	141093256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagtctggtgcagttggggCcattcagctgccctacgttg	6	11	14	10	1	2	1	1	0	1	1	2	1	2	1	2	3	4	4	2	3	1	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr2:141093256C>A	ENST00000389484.3	-	78	13015	c.12044G>T	c.(12043-12045)gGc>gTc	p.G4015V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4015					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4015D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGTTGGGGCCATTCAGCTG	0.418										TSP Lung(27;0.18)			45	55					1.00953e-15	1.22467e-15	1	0	A	141093256	C	A	141093256	3	1	426	1	0	0	0	0	1	0	0	0	9019	739	26	4	1811	4	LRP1B	2	141093256	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	71479060	141093256	102106117	11	84021											
CSRNP3	80034	broad.mit.edu	37	chr2	166533063	166533063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtggctgtgactgccGagtgttctgtgatccagaca	7	11	14	9	1	1	3	0	2	1	1	2	5	2	4	2	2	1	2	2	2	0	1			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr2:166533063G>T	ENST00000314499.7	+	6	1026	c.650G>T	c.(649-651)cGa>cTa	p.R217L	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R217L|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R249L	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	217	Cys-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGTGACTGCCGAGTGTTCTGT	0.542													35	16					5.8336e-16	7.19478e-16	1	0	T	166533063	G	T	166533063	3	4	426	1	0	0	0	0	1	0	0	0	3997	1058	37	3	660	3	CSRNP3	2	166533063	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	25439807	166533063	76666310	12	84022											
CALCRL	10203	broad.mit.edu	37	chr2	188225462	188225462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtaaagatgaatgaactggGacactttgcaactaacctgt	14	10	10	7	0	0	3	0	2	0	1	0	4	0	4	1	2	4	2	1	2	6	3			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr2:188225462G>C	ENST00000409998.1	-	11	1425	c.644C>G	c.(643-645)tCc>tGc	p.S215C	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.S215C|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.S215C			Q16602	CALRL_HUMAN	calcitonin receptor-like	215						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AATGAACTGGGACACTTTGCA	0.393													28	28					0	0	0	0	C	188225462	G	C	188225462	3	2	426	1	0	0	0	0	1	0	0	0	2605	1174	41	2	765	2	CALCRL	2	188225462	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	21692399	188225462	54973911	13	84023											
ALG1L2	644974	broad.mit.edu	37	chr3	129817127	129817127	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctaaaccagttccggAagaacctgcgggagtcgcag	12	5	13	11	3	0	1	0	0	0	1	2	3	1	3	3	2	4	4	3	2	5	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522													4	76					0	0	0	0	C	129817127	A	C	129817127	1	2	426	0	1	0	0	0	0	0	0	0	518	261	9	5		5	ALG1L2	3	129817127	RNA	SNP	A	TCGA-HD-A634-01A-11D-A28R-08		129817127	68205303	14	84024			1	124		3	2	18	N	G_A	2.965384e-05
ALG1L2	644974	broad.mit.edu	37	chr3	129817138	129817138	+	RNA	SNP	G	G	A																															cagttccggaagaacctgcgGgagtcgcagcagctctgatg																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr3:129817138G>A	ENST00000507643.1	+	0	720							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										AGAACCTGCGGGAGTCGCAGC	0.522													4	68					0	0	0	0	A	129817138	G	A	129817138	1	1	426	0	1	0	0	0	0	0	0	0	518	1247	43	4		4	ALG1L2	3	129817138	RNA	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	11	129817138	68205292	15	84025	1057	2	1	124		3	2	18	N	G_A	2.965384e-05
ALG1L2	644974	broad.mit.edu	37	chr3	129817144	129817144	+	RNA	SNP	G	G	T																															cggaagaacctgcgggagtcGcagcagctctgatgggatga																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr3:129817144G>T	ENST00000507643.1	+	0	726							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										TGCGGGAGTCGCAGCAGCTCT	0.527													4	67					0.150653	0.150653	1	0	T	129817144	G	T	129817144	1	4	426	0	1	0	0	0	0	0	0	0	518	1102	38	3		3	ALG1L2	3	129817144	RNA	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	6	129817144	68205286	16	84026	1057	2	1	124		3	2	18	N	G_A	2.965384e-05
VPS8	23355	broad.mit.edu	37	chr3	184588531	184588531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcctattccattatgcaGatcgagctctgaaaaagtgc	14	11	7	9	1	1	2	0	1	1	1	4	3	3	2	2	0	3	2	2	0	5	3			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr3:184588531G>A	ENST00000437079.3	+	21	1843	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	VPS8_ENST00000446204.2_Missense_Mutation_p.D556N|VPS8_ENST00000287546.4_Missense_Mutation_p.D558N|VPS8_ENST00000436792.2_Missense_Mutation_p.D556N	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	558							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CCATTATGCAGATCGAGCTCT	0.408													11	14					0	0	0	0	A	184588531	G	A	184588531	3	1	426	1	0	0	0	0	1	0	0	0	17314	942	33	2	1746	2	VPS8	3	184588531	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	54771387	184588531	13433899	17	84027											
GRID2	2895	broad.mit.edu	37	chr4	94377041	94377041	+	Frame_Shift_Del	DEL	C	C	-																															acctcttgaactggcttaatCccccacgattacaaatggga																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr4:94377041delC	ENST00000282020.4	+	11	2032	c.1774delC	c.(1774-1776)ccfs	p.P593fs	GRID2_ENST00000510992.1_Frame_Shift_Del_p.P498fs	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	593					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTGGCTTAATCCCCCACGATT	0.453													40	73	---	---	---	---					-	94377041	C	-	94377041	7	5	426	1	0	1	0	1	0	0	0	0	6822	855	30	0	1816	0	GRID2	4	94377041	Frame_Shift_Del	DEL	C	TCGA-HD-A634-01A-11D-A28R-08		94377041	96777235	18	84028											
BANK1	55024	broad.mit.edu	37	chr4	102981427	102981427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgtctaactgatggtCaggaagaactcatcctcctg	9	10	12	10	0	3	2	2	1	1	1	5	3	5	3	2	4	2	1	2	4	3	1			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr4:102981427C>A	ENST00000504592.1	+	16	2402	c.1984C>A	c.(1984-1986)Cag>Aag	p.Q662K	BANK1_ENST00000428908.1_Missense_Mutation_p.Q544K|BANK1_ENST00000508653.1_Missense_Mutation_p.Q544K|BANK1_ENST00000444316.2_Missense_Mutation_p.Q647K|BANK1_ENST00000322953.4_Missense_Mutation_p.Q677K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	677					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AACTGATGGTCAGGAAGAACT	0.453													40	61					5.71845e-15	6.82525e-15	1	0	A	102981427	C	A	102981427	3	1	426	1	0	0	0	0	1	0	0	0	1313	827	29	2	2075	2	BANK1	4	102981427	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	8604386	102981427	88172849	19	84029											
FRG1	2483	broad.mit.edu	37	chr4	190864424	190864424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacccagcttgatattGttggtgagtcagttttcagt	11	14	10	6	0	2	3	2	2	0	1	2	3	2	3	1	1	2	3	1	1	3	6			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr4:190864424G>A	ENST00000226798.4	+	2	352	c.130G>A	c.(130-132)Gtt>Att	p.V44I	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	44					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTTGATATTGTTGGTGAGTC	0.313													37	47					0	0	0	0	A	190864424	G	A	190864424	3	1	426	1	0	0	0	0	1	0	0	0	6094	1377	48	4	136	4	FRG1	4	190864424	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	87882997	190864424	289852	20	84030											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736453	140736453	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgacaatgtccctgagatCctgtaccccaccttccctac	10	9	5	17	1	0	1	0	1	0	1	3	3	3	1	6	0	3	1	6	0	4	3			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr5:140736453C>A	ENST00000571252.1	+	1	1686	c.1686C>A	c.(1684-1686)atC>atA	p.I562I	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGAGATCCTGTACCCCA	0.582													122	240					4.94232e-47	6.41634e-47	1	0	A	140736453	C	A	140736453	2	1	426	1	0	0	0	0	0	0	0	1	11627	845	30	2		2	PCDHGA4	5	140736453	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		140736453	40178807	21	84031											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801542	140801542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacagtccgtatatcgcGtgagtgttccagaaaacatc	12	11	8	10	3	0	2	0	1	0	1	4	2	2	2	2	0	2	2	2	0	5	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr5:140801542G>A	ENST00000398587.2	+	1	781	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V250M|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTATATCGCGTGAGTGTTCC	0.498													82	100					0	0	0	0	A	140801542	G	A	140801542	3	1	426	1	0	0	0	0	1	0	0	0	11623	1145	40	1	750	1	PCDHGA11	5	140801542	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	65089	140801542	40113718	22	84032											
CAMK2A	815	broad.mit.edu	37	chr5	149629830	149629830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttcttcaggcagtccaCggtctcctgtctgtgcatgc	6	12	10	13	1	4	0	1	0	3	0	6	1	5	0	2	2	3	2	2	2	1	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr5:149629830C>T	ENST00000348628.6	-	11	1524	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	CAMK2A_ENST00000398376.3_Missense_Mutation_p.V287M	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	287					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCAGTCCACGGTCTCCTGT	0.602													23	41					0	0	0	0	T	149629830	C	T	149629830	3	4	426	1	0	0	0	0	1	0	0	0	2624	536	19	1	646	1	CAMK2A	5	149629830	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	8828288	149629830	31285430	23	84033											
CLINT1	9685	broad.mit.edu	37	chr5	157216481	157216485	+	Frame_Shift_Del	DEL	GGCAA	GGCAA	-																															tggggtcagaccaagtagagGgcaaggttttgctgactgat																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr5:157216481_157216485delGGCAA	ENST00000523094.1	-	11	1622_1626	c.1417_1421delTTGCC	c.(1417-1422)cfs	p.LP473fs	CLINT1_ENST00000411809.2_Frame_Shift_Del_p.LP473fs|CLINT1_ENST00000296951.5_Frame_Shift_Del_p.LP473fs|CLINT1_ENST00000530742.1_Frame_Shift_Del_p.LP473fs|CLINT1_ENST00000523908.1_Frame_Shift_Del_p.LP491fs	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	473					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAGTAGAGGGCAAGGTTTTGCTG	0.439													52	105	---	---	---	---					-	157216485	GGCAA	-	157216481	7	5	426	1	0	1	0	1	0	0	0	0	3561	1232	43	0	464	0	CLINT1	5	157216481	Frame_Shift_Del	DEL	GGCAA	TCGA-HD-A634-01A-11D-A28R-08	7586651	157216481	23698779	24	84034											
MDC1	9656	broad.mit.edu	37	chr6	30673819	30673819	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaaggggcttttggggtggGgctggggcttcaggtactgt	4	13	19	5	0	1	0	1	0	0	0	1	0	1	0	0	9	1	4	0	9	2	5			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr6:30673819G>A	ENST00000376406.3	-	10	3788	c.3141C>T	c.(3139-3141)gcC>gcT	p.A1047A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A783A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1047	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TTTGGGGTGGGGCTGGGGCTT	0.532								Other conserved DNA damage response genes					63	79					0	0	0	0	A	30673819	G	A	30673819	2	1	426	1	0	0	0	0	0	0	0	1	9472	1219	43	4		4	MDC1	6	30673819	Silent	SNP	G	TCGA-HD-A634-01A-11D-A28R-08		30673819	140441248	25	84035											
ANKS1A	23294	broad.mit.edu	37	chr6	34957002	34957002	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttttctcttctgcagaGggaacgtccaccacctccag	8	13	7	13	1	2	1	0	0	2	1	5	2	4	2	4	1	2	1	4	1	1	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr6:34957002G>A	ENST00000360359.3	+	9	1349	c.1209_splice	c.e9-1	p.R404_splice	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	404						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTCTGCAGAGGGAACGTCCA	0.393													52	85					0	0	0	0	A	34957002	G	A	34957002	5	1	426	1	0	0	0	0	0	0	1	0	687	1014	35	4	1245	4	ANKS1A	6	34957002	Splice_Site	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	4283183	34957002	136158065	26	84036											
NCF1	653361	broad.mit.edu	37	chr7	74193734	74193734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgacttcttcaaggtgCgccctgatgacctcaagctc	7	11	8	15	2	3	2	2	2	1	0	6	3	4	2	3	1	2	1	3	1	2	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr7:74193734C>T	ENST00000289473.4	+	4	431	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	121	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	p.R121C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CTTCAAGGTGCGCCCTGATGA	0.597													9	52					0	0	0	0	T	74193734	C	T	74193734	3	4	426	1	0	0	0	0	1	0	0	0	10286	768	27	1	375	1	NCF1	7	74193734	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		74193734	84944929	27	84037											
SEMA3C	10512	broad.mit.edu	37	chr7	80430072	80430072	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtaactgttgaataattaCcttgatgttgtaaaaatgcc	14	15	7	5	0	0	2	0	2	0	0	0	2	0	2	2	0	3	4	2	0	7	7			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr7:80430072C>A	ENST00000265361.3	-	10	1548		c.e10+1		SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site|SEMA3C_ENST00000536800.1_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGAATAATTACCTTGATGTTG	0.289													23	36					7.92952e-12	9.31404e-12	1	0	A	80430072	C	A	80430072	5	1	426	1	0	0	0	0	0	0	1	0	14113	521	18	4	1304	4	SEMA3C	7	80430072	Splice_Site	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	6236338	80430072	78708591	28	84038											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs149757187		TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													5	73					0	0	0	0	G	114269973	A	G	114269973	2	3	426	1	0	0	0	0	0	0	0	1	6074	40	2	5		5	FOXP2	7	114269973	Silent	SNP	A	TCGA-HD-A634-01A-11D-A28R-08	33839901	114269973	44868690	29	84039											
CNGB3	54714	broad.mit.edu	37	chr8	87641258	87641258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtcatccatgcaggCgcggaagtagttctgattgg	9	11	14	7	2	2	1	1	1	1	0	3	2	3	2	1	4	1	3	1	4	3	3			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr8:87641258C>T	ENST00000320005.5	-	12	1416	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	457					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCCATGCAGGCGCGGAAGTAG	0.443													65	202					0	0	0	0	T	87641258	C	T	87641258	3	4	426	1	0	0	0	0	1	0	0	0	3631	768	27	1	1088	1	CNGB3	8	87641258	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		87641258	58722764	30	84040											
TAF1L	138474	broad.mit.edu	37	chr9	32631299	32631299	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacaacctttgcattgactgGagtgtggaaagggtgtgtat	10	13	13	5	0	0	1	0	1	0	0	0	3	0	3	1	3	3	2	1	3	4	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr9:32631299G>C	ENST00000242310.4	-	1	4368	c.4279C>G	c.(4279-4281)Cca>Gca	p.P1427A		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1427	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.P1427T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCATTGACTGGAGTGTGGAAA	0.478													14	290					0	0	0	0	C	32631299	G	C	32631299	3	2	426	1	0	0	0	0	1	0	0	0	15614	1174	41	2	1205	2	TAF1L	9	32631299	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08		32631299	108582132	31	84041											
GRK5	2869	broad.mit.edu	37	chr10	121196183	121196183	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacctggcctatgcctaCgagaccaaggatgcactgtg	10	8	11	12	1	1	1	1	0	0	1	1	3	1	2	4	2	4	1	4	2	4	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr10:121196183C>T	ENST00000392870.2	+	9	1088	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GRK5_ENST00000369108.3_Silent_p.Y148Y	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	253	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CCTATGCCTACGAGACCAAGG	0.562													5	48					0	0	0	0	T	121196183	C	T	121196183	2	4	426	1	0	0	0	0	0	0	0	1	6842	547	19	1		1	GRK5	10	121196183	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		121196183	14338564	32	84042											
KNDC1	85442	broad.mit.edu	37	chr10	135015258	135015258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcccagccttgtccccCggcccagccggattccagag	5	6	12	18	3	0	1	0	0	0	1	3	2	2	2	7	3	2	0	7	3	0	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr10:135015258C>T	ENST00000304613.3	+	17	3264	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P	KNDC1_ENST00000368571.2_Silent_p.P1016P|KNDC1_ENST00000368572.2_Silent_p.P1083P			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1081					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTTGTCCCCCGGCCCAGCCG	0.697													13	16					0	0	0	0	T	135015258	C	T	135015258	2	4	426	1	0	0	0	0	0	0	0	1	8478	639	23	1		1	KNDC1	10	135015258	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	13819075	135015258	519489	33	84043											
TMEM132A	54972	broad.mit.edu	37	chr11	60698020	60698020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatgtgacagccgcccGcccagcccagcccacactct	7	5	9	20	2	1	1	0	1	1	0	1	1	1	1	5	0	4	2	5	0	0	0			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr11:60698020G>T	ENST00000005286.4	+	5	1058	c.905G>T	c.(904-906)cGc>cTc	p.R302L	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R302L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	302						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACAGCCGCCCGCCCAGCCCAG	0.607													110	152					5.10254e-61	6.74264e-61	1	0	T	60698020	G	T	60698020	3	4	426	1	0	0	0	0	1	0	0	0	16139	1087	38	3	923	3	TMEM132A	11	60698020	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08		60698020	74308496	34	84044											
LRP5	4041	broad.mit.edu	37	chr11	68125186	68125186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggatggatggcagcacccGgaagatcattgtggactcgg	10	7	16	8	2	1	1	1	0	0	1	2	5	1	5	1	6	1	2	1	6	1	1	rs146895334		TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr11:68125186G>A	ENST00000294304.7	+	3	663	c.557G>A	c.(556-558)cGg>cAg	p.R186Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	186	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCAGCACCCGGAAGATCATT	0.587													3	39					0	0	0	0	A	68125186	G	A	68125186	3	1	426	1	0	0	0	0	1	0	0	0	9024	1116	39	1	567	1	LRP5	11	68125186	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	7427166	68125186	66881330	35	84045											
HEPACAM	220296	broad.mit.edu	37	chr11	124794758	124794758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttcaaagagtcggataCggtctcgatagtcaggccgc	10	10	11	10	4	3	1	2	0	1	1	5	3	3	2	1	3	1	0	1	3	3	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr11:124794758C>T	ENST00000298251.4	-	2	698	c.293G>A	c.(292-294)cGt>cAt	p.R98H		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	98	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.R98H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAGTCGGATACGGTCTCGATA	0.587													56	82					0	0	0	0	T	124794758	C	T	124794758	3	4	426	1	0	0	0	0	1	0	0	0	7102	536	19	1	981	1	HEPACAM	11	124794758	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	56669572	124794758	10211758	36	84046											
HDAC7	51564	broad.mit.edu	37	chr12	48189110	48189110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgacccagagagccgctCggtggtcattaaggactggg	8	7	15	11	2	1	2	1	1	0	1	2	4	1	3	3	4	1	1	3	4	1	1			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr12:48189110C>T	ENST00000080059.7	-	11	1140	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	HDAC7_ENST00000427332.2_Missense_Mutation_p.E342K|HDAC7_ENST00000380610.4_Missense_Mutation_p.E398K|HDAC7_ENST00000552960.1_Missense_Mutation_p.E364K|HDAC7_ENST00000354334.3_Missense_Mutation_p.E344K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	342	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GAGAGCCGCTCGGTGGTCATT	0.667													12	22					0	0	0	0	T	48189110	C	T	48189110	3	4	426	1	0	0	0	0	1	0	0	0	7062	893	31	1	1898	1	HDAC7	12	48189110	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		48189110	85662785	37	84047											
TMTC4	84899	broad.mit.edu	37	chr13	101320926	101320926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccgatcccactactaaCttagcccagaatggaggaag	14	6	9	12	1	0	1	0	0	0	1	1	4	1	3	3	2	4	1	3	2	6	3			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr13:101320926C>T	ENST00000342624.5	-	3	384	c.126G>A	c.(124-126)aaG>aaA	p.K42K	TMTC4_ENST00000328767.5_Silent_p.K23K|TMTC4_ENST00000376234.3_Silent_p.K23K	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	23						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTACTAACTTAGCCCAGA	0.453													18	34					0	0	0	0	T	101320926	C	T	101320926	2	4	426	1	0	0	0	0	0	0	0	1	16357	564	20	4		4	TMTC4	13	101320926	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		101320926	13848952	38	84048											
ZFYVE26	23503	broad.mit.edu	37	chr14	68228053	68228053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggagtaaggcaggcaCtgcctttttgagctgtgtcc	8	10	13	10	0	0	2	0	1	0	1	1	3	1	3	3	3	2	4	3	3	1	3			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr14:68228053C>A	ENST00000555452.1	-	35	6754	c.6618G>T	c.(6616-6618)caG>caT	p.Q2206H	ZFYVE26_ENST00000557306.1_Intron|ZFYVE26_ENST00000347230.4_Intron			Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	0					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGGCAGGCACTGCCTTTTTG	0.552													7	12					0.0293803	0.0297828	1	0	A	68228053	C	A	68228053	3	1	426	1	0	0	0	0	1	0	0	0	17763	580	20	4		4	ZFYVE26	14	68228053	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		68228053	39121487	39	84049											
ZNF598	90850	broad.mit.edu	37	chr16	2051046	2051046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgagcgccgggggccaCggggatcctcaggtccccgc	4	4	19	14	4	1	1	1	1	0	0	3	2	3	2	5	7	1	0	5	7	0	0			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr16:2051046C>T	ENST00000563630.1	-	7	1237	c.995G>A	c.(994-996)cGt>cAt	p.R332H	ZNF598_ENST00000562103.1_Missense_Mutation_p.R332H|ZNF598_ENST00000431526.1_Missense_Mutation_p.R387H			Q86UK7	ZN598_HUMAN	zinc finger protein 598	387						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGGGCCACGGGGATCCTC	0.692													4	5					0	0	0	0	T	2051046	C	T	2051046	3	4	426	1	0	0	0	0	1	0	0	0	18123	536	19	1	1578	1	ZNF598	16	2051046	Missense_Mutation	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		2051046	88303707	40	84050											
CCNF	899	broad.mit.edu	37	chr16	2481177	2481177	+	Frame_Shift_Del	DEL	A	A	-																															ttctgttatcctacaaagcgAagaataaggaggaggccccg																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr16:2481177delA	ENST00000397066.4	+	2	151	c.63delA	c.(61-63)cgfs	p.R22fs		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	22					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTACAAAGCGAAGAATAAGGA	0.443													46	80	---	---	---	---					-	2481177	A	-	2481177	7	5	426	1	0	1	0	1	0	0	0	0	2951	233	9	0	69	0	CCNF	16	2481177	Frame_Shift_Del	DEL	A	TCGA-HD-A634-01A-11D-A28R-08	430131	2481177	87873576	41	84051											
KIAA0430	9665	broad.mit.edu	37	chr16	15694386	15694386	+	Missense_Mutation	SNP	G	G	T																															ggttttcatgattggcagggGagagactgagtgaactcaaa																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr16:15694386G>T	ENST00000396368.3	-	25	4918	c.4712C>A	c.(4711-4713)tCc>tAc	p.S1571Y	KIAA0430_ENST00000602337.1_Missense_Mutation_p.S1568Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.S1259Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S1568Y|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S1406Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S1571Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1570						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATTGGCAGGGGAGAGACTGAG	0.562													20	95					4.35082e-09	4.80538e-09	1	0	T	15694386	G	T	15694386	3	4	426	1	0	0	0	0	1	0	0	0	8228	1174	41	2	528	2	KIAA0430	16	15694386	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	13213209	15694386	74660367	42	84052	1058	2									
KIAA0430	9665	broad.mit.edu	37	chr16	15694388	15694388	+	Silent	SNP	G	G	T																															ttttcatgattggcaggggaGagactgagtgaactcaaacg																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr16:15694388G>T	ENST00000396368.3	-	25	4916	c.4710C>A	c.(4708-4710)ctC>ctA	p.L1570L	KIAA0430_ENST00000602337.1_Silent_p.L1567L|KIAA0430_ENST00000344181.3_Silent_p.L1258L|KIAA0430_ENST00000548025.1_Silent_p.L1567L|KIAA0430_ENST00000540441.2_Silent_p.L1405L|KIAA0430_ENST00000551742.1_Silent_p.L1570L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1569						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGCAGGGGAGAGACTGAGTG	0.562													19	95					2.4624e-09	2.76087e-09	1	0	T	15694388	G	T	15694388	2	4	426	1	0	0	0	0	0	0	0	1	8228	929	33	2		2	KIAA0430	16	15694388	Silent	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	2	15694388	74660365	43	84053	1058	2									
ZFHX3	463	broad.mit.edu	37	chr16	72991587	72991587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactggtcatgtgaatgcGgaggttcctggccacgttgg	6	11	14	10	2	2	1	2	1	0	0	3	2	3	2	2	5	1	2	2	5	1	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr16:72991587G>A	ENST00000268489.5	-	2	3130	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	820					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGTGAATGCGGAGGTTCCTG	0.567													79	118					0	0	0	0	A	72991587	G	A	72991587	3	1	426	1	0	0	0	0	1	0	0	0	17729	1116	39	1	8689	1	ZFHX3	16	72991587	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	57297199	72991587	17363166	44	84054											
DEF8	54849	broad.mit.edu	37	chr16	90028152	90028152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaccctgcagggggtgtGcccagtgaggccaggcagtg	6	7	17	11	0	1	2	0	2	1	0	1	2	1	2	3	4	2	2	3	4	0	0			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr16:90028152G>A	ENST00000563594.1	+	8	1684	c.687G>A	c.(685-687)gtG>gtA	p.V229V	DEF8_ENST00000570182.1_Silent_p.V219V|DEF8_ENST00000569453.1_Silent_p.V229V|DEF8_ENST00000268676.7_Silent_p.V290V|DEF8_ENST00000567874.1_Silent_p.V169V|DEF8_ENST00000563795.1_Silent_p.V229V|DEF8_ENST00000563848.1_3'UTR	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	290					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAGGGGGTGTGCCCAGTGAGG	0.617													26	32					0	0	0	0	A	90028152	G	A	90028152	2	1	426	1	0	0	0	0	0	0	0	1	4419	1306	46	4		4	DEF8	16	90028152	Silent	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	17036565	90028152	326601	45	84055											
KIAA0195	9772	broad.mit.edu	37	chr17	73481511	73481511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcttgcctgcagggCgagcctccctcagccctggg	3	8	12	18	1	1	0	1	0	0	0	3	1	3	0	6	2	5	2	6	2	0	1			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr17:73481511C>T	ENST00000314256.7	+	3	421	c.27C>T	c.(25-27)ggC>ggT	p.G9G	KIAA0195_ENST00000375248.5_Silent_p.G19G|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	9					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGCAGGGCGAGCCTCCCT	0.677													4	109					0	0	0	0	T	73481511	C	T	73481511	2	4	426	1	0	0	0	0	0	0	0	1	8211	755	27	1		1	KIAA0195	17	73481511	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		73481511	7713699	46	84056											
ROCK1	6093	broad.mit.edu	37	chr18	18547728	18547728	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaccgcttgcatgtcattCagttccttctgatgtttcac	6	17	6	12	1	4	1	3	1	1	0	5	1	5	1	2	0	2	4	2	0	1	6			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr18:18547728C>T	ENST00000399799.1	-	26	4117	c.3177G>A	c.(3175-3177)ctG>ctA	p.L1059L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1059					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCATGTCATTCAGTTCCTTCT	0.338													81	174					0	0	0	0	T	18547728	C	T	18547728	2	4	426	1	0	0	0	0	0	0	0	1	13602	813	29	2		2	ROCK1	18	18547728	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		18547728	59529520	47	84057											
ALPK2	115701	broad.mit.edu	37	chr18	56204900	56204900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaccttctgccagttccGtatctacagagcaaatttct	9	15	6	11	1	3	2	0	1	3	1	4	2	4	2	3	0	3	3	3	0	3	6			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr18:56204900G>A	ENST00000361673.3	-	5	2732	c.2519C>T	c.(2518-2520)aCg>aTg	p.T840M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	840							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGCCAGTTCCGTATCTACAGA	0.398													22	48					0	0	0	0	A	56204900	G	A	56204900	3	1	426	1	0	0	0	0	1	0	0	0	545	1145	40	1	4029	1	ALPK2	18	56204900	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	37657172	56204900	21872348	48	84058											
ZNF98	148198	broad.mit.edu	37	chr19	22604998	22604998	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggactcggcactctcaccAtttctaggcttccaaggggt	7	11	10	13	2	2	0	1	0	2	0	6	1	3	1	2	5	0	2	2	5	2	3			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr19:22604998A>G	ENST00000357774.5	-	1	150	c.30_splice	c.e1+1	p.M10_splice	ZNF98_ENST00000601553.1_Splice_Site_p.M10_splice	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CACTCTCACCATTTCTAGGCT	0.607													53	134					0	0	0	0	G	22604998	A	G	22604998	5	3	426	1	0	0	0	0	0	0	1	0	18296	231	8	5	1705	5	ZNF98	19	22604998	Splice_Site	SNP	A	TCGA-HD-A634-01A-11D-A28R-08		22604998	36523985	49	84059											
CCDC106	29903	broad.mit.edu	37	chr19	56160925	56160925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtgccagctggacaaattCatctcttctgctcggatgga	8	11	11	11	2	3	0	1	0	2	0	5	3	3	3	1	4	3	2	1	4	1	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr19:56160925C>T	ENST00000586790.1	+	3	1192	c.288C>T	c.(286-288)ttC>ttT	p.F96F	CCDC106_ENST00000591578.1_Silent_p.F96F|CCDC106_ENST00000591241.1_Silent_p.F61F|CCDC106_ENST00000308964.3_Silent_p.F96F|CCDC106_ENST00000588740.1_Silent_p.F96F			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	96						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGGACAAATTCATCTCTTCTG	0.607													15	27					0	0	0	0	T	56160925	C	T	56160925	2	4	426	1	0	0	0	0	0	0	0	1	2766	825	29	2		2	CCDC106	19	56160925	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08	33555927	56160925	2968058	50	84060											
RBPJL	11317	broad.mit.edu	37	chr20	43936862	43936862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcagagcgaagccgaCaggcggagcctcccgggcac	9	2	15	15	4	0	1	0	0	0	1	1	4	1	2	3	3	5	3	3	3	1	0			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr20:43936862C>T	ENST00000343694.3	+	2	174	c.102C>T	c.(100-102)gaC>gaT	p.D34D	RBPJL_ENST00000372741.3_Silent_p.D34D|MATN4_ENST00000353917.5_5'UTR|MATN4_ENST00000372751.4_5'UTR|MATN4_ENST00000537548.1_5'UTR|MATN4_ENST00000360607.5_5'UTR|RBPJL_ENST00000372743.1_Silent_p.D34D|MATN4_ENST00000342716.4_5'UTR	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	34					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCGAAGCCGACAGGCGGAGCC	0.647													39	108					0	0	0	0	T	43936862	C	T	43936862	2	4	426	1	0	0	0	0	0	0	0	1	13244	477	17	4		4	RBPJL	20	43936862	Silent	SNP	C	TCGA-HD-A634-01A-11D-A28R-08		43936862	19088658	51	84061											
HRH3	11255	broad.mit.edu	37	chr20	60791509	60791509	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgaagccacggagccGcccccaccgccacccccgag	7	2	13	19	4	0	1	0	1	0	0	0	3	0	2	8	2	2	0	8	2	1	0			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr20:60791509G>A	ENST00000340177.5	-	3	1175	c.891C>T	c.(889-891)ggC>ggT	p.G297G	HRH3_ENST00000317393.6_Silent_p.G297G	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	297	Poly-Gly.				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCACGGAGCCGCCCCCACCGC	0.741													8	1					0	0	0	0	A	60791509	G	A	60791509	2	1	426	1	0	0	0	0	0	0	0	1	7407	1074	38	1		1	HRH3	20	60791509	Silent	SNP	G	TCGA-HD-A634-01A-11D-A28R-08	16854647	60791509	2234011	52	84062											
TRPM2	7226	broad.mit.edu	37	chr21	45861590	45861590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagaacctgcacgcctgcGactcgggggcctccatccga	7	6	11	17	4	0	1	0	0	0	1	4	3	3	1	6	2	3	1	6	2	1	0	rs145895219		TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chr21:45861590G>A	ENST00000397928.1	+	32	4847	c.4402G>A	c.(4402-4404)Gac>Aac	p.D1468N	TRPM2_ENST00000300482.5_Missense_Mutation_p.D1468N|TRPM2_ENST00000397932.2_Missense_Mutation_p.D1518N|TRPM2_ENST00000300481.9_Missense_Mutation_p.D1414N|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1468	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCACGCCTGCGACTCGGGGGC	0.662													24	26					0	0	0	0	A	45861590	G	A	45861590	3	1	426	1	0	0	0	0	1	0	0	0	16681	1058	37	1	4528	1	TRPM2	21	45861590	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08		45861590	2268305	53	84063											
KLHL34	257240	broad.mit.edu	37	chrX	21675273	21675273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtacagtgtgccaggcGctcagttgtgggctcctgcc	4	11	13	13	1	2	0	1	0	1	0	3	0	3	0	3	2	3	4	3	2	1	2			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chrX:21675273G>T	ENST00000379499.2	-	1	1175	c.634C>A	c.(634-636)Cgc>Agc	p.R212S		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	212	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGTGCCAGGCGCTCAGTTGTG	0.692													18	7					1.02788e-11	1.18849e-11	1	0	T	21675273	G	T	21675273	3	4	426	1	0	0	0	0	1	0	0	0	8439	1087	38	3	1304	3	KLHL34	23	21675273	Missense_Mutation	SNP	G	TCGA-HD-A634-01A-11D-A28R-08		21675273	133595287	54	84064											
USP9X	8239	broad.mit.edu	37	chrX	41060380	41060380	+	Frame_Shift_Del	DEL	G	G	-																															cgcccacccaaaggattcgtGgggctgaaaaatgccggtgc																										TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chrX:41060380delG	ENST00000324545.7	+	31	5304	c.4671delG	c.(4669-4671)gtfs	p.V1557fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.V1557fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1557					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAGGATTCGTGGGGCTGAAAA	0.463													51	10	---	---	---	---					-	41060380	G	-	41060380	7	5	426	1	0	1	0	1	0	0	0	0	17186	1335	47	0	4789	0	USP9X	23	41060380	Frame_Shift_Del	DEL	G	TCGA-HD-A634-01A-11D-A28R-08	19385107	41060380	114210180	55	84065											
SMC1A	8243	broad.mit.edu	37	chrX	53423264	53423264	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttcaagcttggtctcAatggctgtcacctccttctg	5	16	8	12	0	5	0	3	0	3	0	7	0	6	0	2	2	1	3	2	2	2	4			TCGA-HD-A634-01A-11D-A28R-08	TCGA-HD-A634-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e12e6ab-b2a4-4bcc-bc70-f0432bd57b86	cb781355-b159-46e4-9f27-c4a3e5113845	g.chrX:53423264A>G	ENST00000322213.4	-	18	2872	c.2745T>C	c.(2743-2745)atT>atC	p.I915I		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	915					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCTTGGTCTCAATGGCTGTCA	0.507													67	6					0	0	0	0	G	53423264	A	G	53423264	2	3	426	1	0	0	0	0	0	0	0	1	14869	126	5	5		5	SMC1A	23	53423264	Silent	SNP	A	TCGA-HD-A634-01A-11D-A28R-08	12362884	53423264	101847296	56	84066											
IGSF21	84966	broad.mit.edu	37	chr1	18554484	18554484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagacagatgggcgcatgCgggagatcgtgtggtaccgg	9	7	17	8	4	1	3	1	0	0	3	2	4	1	3	1	4	2	2	1	4	2	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:18554484C>T	ENST00000251296.1	+	2	546	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	55	Ig-like 1.					extracellular region		p.R55W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGGCGCATGCGGGAGATCGT	0.572													9	62					0	0	0	0	T	18554484	C	T	18554484	3	4	427	1	0	0	0	0	1	0	0	0	7652	759	27	1	169	1	IGSF21	1	18554484	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		18554484	230696137	1	84067											
HSPG2	3339	broad.mit.edu	37	chr1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccgagcccacatccagctCcacaaaaacccagccatcca	13	5	4	19	1	0	0	0	0	0	0	4	1	4	0	7	0	4	1	7	0	2	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	147	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACATCCAGCTCCACAAAAACC	0.617													24	147					7.38237e-10	8.25483e-10	1	0	A	22216609	C	A	22216609	4	1	427	1	0	0	0	0	0	1	0	0	7483	864	30	2	13104	2	HSPG2	1	22216609	Nonsense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	3662125	22216609	227034012	2	84068											
EPS15	2060	broad.mit.edu	37	chr1	51829572	51829572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggtcttgttggagttccGatctttggtggcagtgctgg	4	14	16	7	1	2	0	0	0	2	0	3	2	3	1	1	5	1	4	1	5	0	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:51829572G>A	ENST00000371733.3	-	23	2421	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	EPS15_ENST00000396122.4_Silent_p.I452I|EPS15_ENST00000371730.2_Silent_p.I641I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	775	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTGGAGTTCCGATCTTTGGTG	0.453			T	MLL	ALL								11	50					0	0	0	0	A	51829572	G	A	51829572	2	1	427	1	0	0	0	0	0	0	0	1	5230	1048	37	1		1	EPS15	1	51829572	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	29612963	51829572	197421049	3	84069											
DYRK3	8444	broad.mit.edu	37	chr1	206822161	206822161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagacaaggtgtcagggaaaCgggtagttaatcctgcaagt	13	9	13	6	1	1	1	1	0	0	1	2	2	2	2	1	3	2	3	1	3	6	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:206822161C>T	ENST00000367106.1	+	4	2031	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.R520W|DYRK3_ENST00000367109.2_Missense_Mutation_p.R540W			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	540	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCAGGGAAACGGGTAGTTAA	0.493													8	42					0	0	0	0	T	206822161	C	T	206822161	3	4	427	1	0	0	0	0	1	0	0	0	4893	527	19	1	1649	1	DYRK3	1	206822161	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	154992589	206822161	42428460	4	84070											
OR2L13	284521	broad.mit.edu	37	chr1	248263052	248263052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacgaccgttatttggccatCtgccactctctctattatcc	7	15	5	14	2	3	0	0	0	3	0	5	1	4	0	4	1	2	1	4	1	4	5			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:248263052C>G	ENST00000366478.2	+	3	712	c.375C>G	c.(373-375)atC>atG	p.I125M	OR2L13_ENST00000358120.2_Missense_Mutation_p.I125M	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			ATTTGGCCATCTGCCACTCTC	0.502													5	231					0	0	0	0	G	248263052	C	G	248263052	3	3	427	1	0	0	0	0	1	0	0	0	11077	903	32	2	377	2	OR2L13	1	248263052	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	41440891	248263052	987569	5	84071											
OR2T27	403239	broad.mit.edu	37	chr1	248813331	248813331	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctgtaaatgagtggattGagcatgggagtaaggatggt	12	10	17	2	0	0	2	0	2	0	0	0	5	0	5	0	5	1	4	0	5	3	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:248813331G>C	ENST00000344889.3	-	1	854	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L285L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGTGGATTGAGCATGGGAG	0.502													12	48					0	0	0	0	C	248813331	G	C	248813331	2	2	427	1	0	0	0	0	0	0	0	1	11092	1277	45	2		2	OR2T27	1	248813331	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	550279	248813331	437290	6	84072											
NCOA1	8648	broad.mit.edu	37	chr2	24985573	24985573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagataaatgatcccgcactGagacacacaggcctctactg	13	8	8	12	1	1	3	0	2	1	2	2	4	2	3	2	1	1	1	2	1	4	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:24985573G>A	ENST00000405141.1	+	23	4794	c.4083G>A	c.(4081-4083)ctG>ctA	p.L1361L	NCOA1_ENST00000348332.3_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000538539.1_Silent_p.L1361L|NCOA1_ENST00000395856.3_Silent_p.L1361L|NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000406961.1_Silent_p.L1361L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1361									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGCACTGAGACACACAG	0.398			T	PAX3	alveolar rhadomyosarcoma								30	244					0	0	0	0	A	24985573	G	A	24985573	2	1	427	1	0	0	0	0	0	0	0	1	10298	1277	45	2		2	NCOA1	2	24985573	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		24985573	218213800	7	84073											
ABCG8	64241	broad.mit.edu	37	chr2	44079860	44079860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcatctccctccaccagcctCgctctgacatcttcaggctg	6	11	6	18	1	5	1	2	1	3	0	8	1	6	1	4	1	1	2	4	1	0	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:44079860C>G	ENST00000272286.2	+	6	907	c.817C>G	c.(817-819)Cgc>Ggc	p.R273G		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	273	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCACCAGCCTCGCTCTGACAT	0.592													4	72					0	0	0	0	G	44079860	C	G	44079860	3	3	427	1	0	0	0	0	1	0	0	0	72	884	31	3	839	3	ABCG8	2	44079860	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	19094287	44079860	199119513	8	84074											
C2orf61	285051	broad.mit.edu	37	chr2	47378589	47378589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaattgtaggttgctatCactggatttaatagggattc	12	16	9	4	0	1	0	1	0	0	0	2	2	1	2	0	3	1	3	0	3	6	9			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:47378589C>T	ENST00000294947.2	-	3	242	c.207G>A	c.(205-207)gtG>gtA	p.V69V	C2orf61_ENST00000445927.2_Silent_p.V69V|CALM2_ENST00000422269.1_5'UTR	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	69								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGGTTGCTATCACTGGATTTA	0.373													36	94					0	0	0	0	T	47378589	C	T	47378589	2	4	427	1	0	0	0	0	0	0	0	1	2200	813	29	2		2	C2orf61	2	47378589	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	3298729	47378589	195820784	9	84075											
C2orf73	129852	broad.mit.edu	37	chr2	54558137	54558137	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaaaggaagataagcatCagtaagtgctggggtttggt	14	9	15	3	0	1	1	1	0	0	1	1	3	1	3	0	5	2	4	0	5	5	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:54558137C>T	ENST00000398634.2	+	1	67	c.26_splice	c.e1+1	p.Q9_splice	C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Splice_Site_p.Q9_splice	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	9										breast(2)	2						AGATAAGCATCAGTAAGTGCT	0.567													17	43					0	0	0	0	T	54558137	C	T	54558137	5	4	427	1	0	0	0	0	0	0	1	0	2212	840	29	2	27	2	C2orf73	2	54558137	Splice_Site	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	7179548	54558137	188641236	10	84076											
RGPD3	653489	broad.mit.edu	37	chr2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-																															aaagtgctacttgtttggccAaaaatcacaccacggccctt																										TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)ttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398													8	407	---	---	---	---					-	107041534	A	-	107041534	7	5	427	1	0	1	0	1	0	0	0	0	13369	127	5	0	2403	0	RGPD3	2	107041534	Frame_Shift_Del	DEL	A	TCGA-HD-A6HZ-01A-12D-A31L-08	52483397	107041534	136157839	11	84077											
SLC5A7	60482	broad.mit.edu	37	chr2	108627019	108627019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatttccatttaaaacacTtgccatggttacatcattct	13	15	4	9	0	2	0	1	0	1	0	3	1	3	0	2	1	3	1	2	1	4	6			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:108627019T>A	ENST00000264047.2	+	9	1721	c.1445T>A	c.(1444-1446)cTt>cAt	p.L482H	SLC5A7_ENST00000409059.1_Missense_Mutation_p.L482H|SLC5A7_ENST00000540517.1_Missense_Mutation_p.L377H	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	482					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTAAAACACTTGCCATGGTT	0.373													6	69					0	0	0	0	A	108627019	T	A	108627019	3	1	427	1	0	0	0	0	1	0	0	0	14758	1609	56	5	1475	5	SLC5A7	2	108627019	Missense_Mutation	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	1585485	108627019	134572354	12	84078											
EDAR	10913	broad.mit.edu	37	chr2	109539885	109539885	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accatgccatagatgttcctCggtctgttctccagcatgta	8	13	8	12	1	2	1	0	0	2	1	5	1	3	1	4	1	2	4	4	1	2	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:109539885C>G	ENST00000409271.1	-	6	824	c.381G>C	c.(379-381)ccG>ccC	p.P127P	EDAR_ENST00000376651.1_Silent_p.P127P|EDAR_ENST00000258443.2_Silent_p.P127P			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	127					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGATGTTCCTCGGTCTGTTCT	0.547													8	114					0	0	0	0	G	109539885	C	G	109539885	2	3	427	1	0	0	0	0	0	0	0	1	4941	871	31	3		3	EDAR	2	109539885	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	912866	109539885	133659488	13	84079											
POTEE	445582	broad.mit.edu	37	chr2	132021794	132021794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctatgttgccctggaCttcgagcaggagatggccac	7	10	13	11	1	0	1	0	0	0	1	1	4	0	2	2	3	3	3	2	3	1	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:132021794C>T	ENST00000356920.5	+	15	2860	c.2766C>T	c.(2764-2766)gaC>gaT	p.D922D	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	922	Actin-like.						ATP binding										TTGCCCTGGACTTCGAGCAGG	0.592													28	302					0	0	0	0	T	132021794	C	T	132021794	2	4	427	1	0	0	0	0	0	0	0	1	12336	564	20	4		4	POTEE	2	132021794	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	22481909	132021794	111177579	14	84080											
GPR39	2863	broad.mit.edu	37	chr2	133403121	133403121	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagtcactagagcccaactCaggcgcgaaaccagccaatt	13	5	9	14	3	2	1	2	0	0	1	2	3	2	1	3	1	4	0	3	1	4	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:133403121C>G	ENST00000329321.3	+	2	1773	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	435						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGCCCAACTCAGGCGCGAAA	0.522													4	69					0	0	0	0	G	133403121	C	G	133403121	4	3	427	1	0	0	0	0	0	1	0	0	6742	838	29	2	1310	2	GPR39	2	133403121	Nonsense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	1381327	133403121	109796252	15	84081											
LRP1B	53353	broad.mit.edu	37	chr2	140990816	140990816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagttctttcctttcaTcaacacttcctaaggagttt	10	15	6	10	0	3	0	2	0	1	0	5	2	5	1	2	1	2	3	2	1	3	6			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:140990816T>G	ENST00000389484.3	-	91	14710	c.13739A>C	c.(13738-13740)gAt>gCt	p.D4580A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4580					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCCTTTCATCAACACTTCC	0.318										TSP Lung(27;0.18)			6	21					0	0	0	0	G	140990816	T	G	140990816	3	3	427	1	0	0	0	0	1	0	0	0	9019	1435	50	5	64	5	LRP1B	2	140990816	Missense_Mutation	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	7587695	140990816	102208557	16	84082											
NFE2L2	4780	broad.mit.edu	37	chr2	178095964	178095964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttgccctaagttcatctCttgtgagatgagcctccaag	8	14	8	11	0	2	2	1	2	1	1	4	3	3	2	3	0	2	1	3	0	2	5			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:178095964C>G	ENST00000397062.3	-	5	1921	c.1367G>C	c.(1366-1368)aGa>aCa	p.R456T	NFE2L2_ENST00000464747.1_Missense_Mutation_p.R440T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R433T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R440T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	456					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAGTTCATCTCTTGTGAGATG	0.438			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			11	84					0	0	0	0	G	178095964	C	G	178095964	3	3	427	1	0	0	0	0	1	0	0	0	10438	913	32	2	454	2	NFE2L2	2	178095964	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	37105148	178095964	65103409	17	84083											
TTN	7273	broad.mit.edu	37	chr2	179422111	179422111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactttgaagtgagttgtgCggatgaccagtttgttggct	7	15	14	5	1	0	4	0	4	0	0	0	5	0	5	1	2	1	4	1	2	1	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:179422111C>T	ENST00000589042.1	-	329	88102	c.87878G>A	c.(87877-87879)cGc>cAc	p.R29293H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20353H|TTN_ENST00000342992.6_Missense_Mutation_p.R26725H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27652H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20228H|TTN_ENST00000342175.6_Missense_Mutation_p.R20420H|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27652	Ig-like 134.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAGTTGTGCGGATGACCAG	0.433													15	73					0	0	0	0	T	179422111	C	T	179422111	3	4	427	1	0	0	0	0	1	0	0	0	16831	768	27	1	20237	1	TTN	2	179422111	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	1326147	179422111	63777262	18	84084											
FN1	2335	broad.mit.edu	37	chr2	216288916	216288916	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcctgctcataattcGaagttgtgctgcaccaaaga	10	12	9	10	1	2	1	1	0	1	1	4	2	3	1	2	1	3	4	2	1	3	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:216288916G>T	ENST00000354785.4	-	8	1538	c.1169C>A	c.(1168-1170)tCg>tAg	p.S390*	FN1_ENST00000446046.1_Nonsense_Mutation_p.S390*|FN1_ENST00000443816.1_Nonsense_Mutation_p.S390*|FN1_ENST00000432072.2_Nonsense_Mutation_p.S390*|FN1_ENST00000421182.1_Nonsense_Mutation_p.S390*|FN1_ENST00000359671.1_Nonsense_Mutation_p.S390*|FN1_ENST00000357867.4_Nonsense_Mutation_p.S390*|FN1_ENST00000357009.2_Nonsense_Mutation_p.S390*|FN1_ENST00000346544.3_Nonsense_Mutation_p.S390*|FN1_ENST00000345488.5_Nonsense_Mutation_p.S390*|FN1_ENST00000336916.4_Nonsense_Mutation_p.S390*|FN1_ENST00000323926.6_Nonsense_Mutation_p.S390*|FN1_ENST00000426059.1_Nonsense_Mutation_p.S390*|FN1_ENST00000356005.4_Nonsense_Mutation_p.S390*			P02751	FINC_HUMAN	fibronectin 1	390	Collagen-binding.|Fibronectin type-II 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATAATTCGAAGTTGTGCT	0.512													20	106					8.10497e-08	8.901e-08	1	0	T	216288916	G	T	216288916	4	4	427	1	0	0	0	0	0	1	0	0	6007	1059	37	3	6453	3	FN1	2	216288916	Nonsense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	36866805	216288916	26910457	19	84085											
NKTR	4820	broad.mit.edu	37	chr3	42680826	42680826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagaaagtaccgggaaGaaggaggtggctgagaagag	14	4	19	4	1	0	4	0	1	0	4	0	8	0	6	1	5	1	3	1	5	5	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:42680826G>T	ENST00000232978.8	+	13	3818	c.3630G>T	c.(3628-3630)aaG>aaT	p.K1210N	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1210					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GTACCGGGAAGAAGGAGGTGG	0.522													9	63					1.12685e-05	1.19485e-05	1	0	T	42680826	G	T	42680826	3	4	427	1	0	0	0	0	1	0	0	0	10518	933	33	2	3676	2	NKTR	3	42680826	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		42680826	155341604	20	84086											
ARIH2	10425	broad.mit.edu	37	chr3	49008082	49008082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgccccatggttattcggGtacaggagcctagagctcgc	8	9	12	12	2	0	1	0	0	0	1	2	2	0	2	3	3	4	3	3	3	3	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:49008082G>A	ENST00000356401.4	+	8	1054	c.715G>A	c.(715-717)Gta>Ata	p.V239I	ARIH2_ENST00000449376.1_Missense_Mutation_p.V239I|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	239					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GGTTATTCGGGTACAGGAGCC	0.547													4	86					0	0	0	0	A	49008082	G	A	49008082	3	1	427	1	0	0	0	0	1	0	0	0	926	1261	44	4	737	4	ARIH2	3	49008082	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	6327256	49008082	149014348	21	84087											
TLR9	54106	broad.mit.edu	37	chr3	52255722	52255722	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagaccacgaaggcatcGtagggcagggcatcctcatc	11	6	12	12	3	1	1	1	0	0	1	5	3	2	1	2	3	0	4	2	3	3	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:52255722G>A	ENST00000494383.1	-	5	3069	c.3070C>T	c.(3070-3072)Cga>Tga	p.R1024*	TLR9_ENST00000360658.2_Silent_p.Y870Y|TLR9_ENST00000597542.1_Silent_p.Y894Y			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CGAAGGCATCGTAGGGCAGGG	0.652													48	73					0	0	0	0	A	52255722	G	A	52255722	4	1	427	1	0	0	0	0	0	1	0	0	16052	1140	40	1	492	1	TLR9	3	52255722	Nonsense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	3247640	52255722	145766708	22	84088											
MED12L	116931	broad.mit.edu	37	chr3	151067854	151067854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtttttcaggatgaatCttcaagtcatgaatgtaacc	11	16	7	7	0	5	2	3	2	2	0	5	3	5	3	1	1	1	2	1	1	4	5			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:151067854C>G	ENST00000474524.1	+	15	2191	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	MED12L_ENST00000273432.4_Missense_Mutation_p.S578C|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	718					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGATGAATCTTCAAGTCAT	0.448													70	231					0	0	0	0	G	151067854	C	G	151067854	3	3	427	1	0	0	0	0	1	0	0	0	9498	913	32	2	2211	2	MED12L	3	151067854	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	98812132	151067854	46954576	23	84089											
GNB4	59345	broad.mit.edu	37	chr3	179138709	179138709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatcattacatgctttccGagcatcctgaagtaaaaaaa	15	11	6	9	1	1	1	1	1	0	0	3	2	3	1	2	0	4	4	2	0	6	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:179138709G>A	ENST00000232564.3	-	3	350	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	GNB4_ENST00000468623.1_Missense_Mutation_p.R22W	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	22					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CATGCTTTCCGAGCATCCTGA	0.299													5	17					0	0	0	0	A	179138709	G	A	179138709	3	1	427	1	0	0	0	0	1	0	0	0	6571	1057	37	1	990	1	GNB4	3	179138709	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	28070855	179138709	18883721	24	84090											
HRG	3273	broad.mit.edu	37	chr3	186392952	186392952	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagcccgaaaaaccttgtCataaactgtgaagtcttcga	15	9	8	9	2	2	1	1	1	1	0	3	4	2	1	2	0	3	0	2	0	6	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:186392952C>G	ENST00000232003.4	+	6	794	c.714C>G	c.(712-714)gtC>gtG	p.V238V		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	238	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AAAACCTTGTCATAAACTGTG	0.438													4	281					0	0	0	0	G	186392952	C	G	186392952	2	3	427	1	0	0	0	0	0	0	0	1	7404	813	29	2		2	HRG	3	186392952	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	7254243	186392952	11629478	25	84091											
DRD5	1816	broad.mit.edu	37	chr4	9783962	9783962	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcagtcgccgaggtGgccggttactggccctttgg	5	9	17	10	3	0	0	0	0	0	0	1	2	0	1	3	7	1	2	3	7	2	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGCCGAGGTGGCCGGTTACT	0.612													5	56					5.18039e-06	5.54077e-06	1	0	T	9783962	G	T	9783962	2	4	427	1	0	0	0	0	0	0	0	1	4796	1335	47	4		4	DRD5	4	9783962	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		9783962	181370314	26	84092											
SLIT2	9353	broad.mit.edu	37	chr4	20550730	20550730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcctcgcacctttgatgGattaaagtctcttcgattac	8	15	6	12	2	1	1	0	1	1	0	6	3	3	2	3	1	1	1	3	1	3	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:20550730G>T	ENST00000504154.1	+	24	2720	c.2468G>T	c.(2467-2469)gGa>gTa	p.G823V	SLIT2_ENST00000503837.1_Missense_Mutation_p.G819V|SLIT2_ENST00000503823.1_Missense_Mutation_p.G815V|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.G827V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	823					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTTTGATGGATTAAAGTCT	0.363													6	19					8.12818e-05	8.4014e-05	1	0	T	20550730	G	T	20550730	3	4	427	1	0	0	0	0	1	0	0	0	14828	1174	41	2	2562	2	SLIT2	4	20550730	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	10766768	20550730	170603546	27	84093											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414354	73414354	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttatattcccaggcacCagagatgtctcatgccactc	9	11	8	13	1	1	1	1	0	1	1	5	2	2	1	3	2	1	2	3	2	2	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:73414354C>G	ENST00000286657.4	-	3	381	c.345G>C	c.(343-345)ctG>ctC	p.L115L	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	115					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCCAGGCACCAGAGATGTCT	0.463													13	91					0	0	0	0	G	73414354	C	G	73414354	2	3	427	1	0	0	0	0	0	0	0	1	267	581	21	4		4	ADAMTS3	4	73414354	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	52863624	73414354	117739922	28	84094											
NDST3	9348	broad.mit.edu	37	chr4	119059244	119059244	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggacatgggctacgctgtGgcccctcaccattcgggcgt	6	8	13	14	4	1	0	1	0	0	0	2	1	1	1	3	4	1	2	3	4	1	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:119059244G>T	ENST00000296499.5	+	5	1663	c.1260G>T	c.(1258-1260)gtG>gtT	p.V420V	NDST3_ENST00000433996.2_Silent_p.V339V	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	420	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GCTACGCTGTGGCCCCTCACC	0.453													9	57					6.40141e-05	6.67266e-05	1	0	T	119059244	G	T	119059244	2	4	427	1	0	0	0	0	0	0	0	1	10327	1335	47	4		4	NDST3	4	119059244	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	45644890	119059244	72095032	29	84095											
KIAA1109	84162	broad.mit.edu	37	chr4	123227048	123227048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaggtttatgaggaagctgGttctgattttcatcaagttg	9	17	11	4	0	3	2	2	2	1	0	3	3	3	3	0	3	1	4	0	3	4	7			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:123227048G>T	ENST00000264501.4	+	57	10062	c.9689G>T	c.(9688-9690)gGt>gTt	p.G3230V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3230V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3230V			Q2LD37	K1109_HUMAN	KIAA1109	3230					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAGGAAGCTGGTTCTGATTTT	0.299													4	27					0.00024832	0.000254528	1	0	T	123227048	G	T	123227048	3	4	427	1	0	0	0	0	1	0	0	0	8259	1261	44	4	9907	4	KIAA1109	4	123227048	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	4167804	123227048	67927228	30	84096											
DCHS2	54798	broad.mit.edu	37	chr4	155254036	155254036	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggggccaagtgggtgCgcctgtgtttgcagcatttg	4	11	17	9	2	0	0	0	0	0	0	0	0	0	0	2	3	3	4	2	3	1	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:155254036C>T	ENST00000357232.3	-	9	1826	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	DCHS2_ENST00000339452.1_Silent_p.A1108A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	609	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGTGGGTGCGCCTGTGTTT	0.552													5	41					0	0	0	0	T	155254036	C	T	155254036	2	4	427	1	0	0	0	0	0	0	0	1	4320	755	27	1		1	DCHS2	4	155254036	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	32026988	155254036	35900240	31	84097											
GRIA2	2891	broad.mit.edu	37	chr4	158284159	158284159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttgcaacttataaggaagGttacaacgtatatggcatcg	13	13	9	6	2	0	0	0	0	0	0	1	1	0	1	0	3	4	4	0	3	8	7			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:158284159G>A	ENST00000296526.7	+	15	2940	c.2615G>A	c.(2614-2616)gGt>gAt	p.G872D	GRIA2_ENST00000507898.1_Missense_Mutation_p.G825D|GRIA2_ENST00000264426.9_Missense_Mutation_p.G872D|GRIA2_ENST00000449365.1_Missense_Mutation_p.G825D|GRIA2_ENST00000393815.2_Missense_Mutation_p.G825D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	872					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TATAAGGAAGGTTACAACGTA	0.413													7	99					0	0	0	0	A	158284159	G	A	158284159	3	1	427	1	0	0	0	0	1	0	0	0	6818	1261	44	4	2792	4	GRIA2	4	158284159	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	3030123	158284159	32870117	32	84098											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	5	10	13	13	0	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2	rs139769264		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483													3	34					0	0	0	0	T	32407029	A	T	32407029	2	4	427	1	0	0	0	0	0	0	0	1	17754	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-HD-A6HZ-01A-12D-A31L-08		32407029	148508231	33	84099											
PCDHB2	56133	broad.mit.edu	37	chr5	140474630	140474630	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgataggcagaccggggatTtgttgttaaatgagaaattg	12	12	13	4	2	0	2	0	1	0	2	1	5	0	3	1	3	0	3	1	3	4	5			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr5:140474630T>A	ENST00000194155.4	+	1	404	c.256T>A	c.(256-258)Ttg>Atg	p.L86M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		86	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGGATTTGTTGTTAAA	0.507													19	69					0	0	0	0	A	140474630	T	A	140474630	3	1	427	1	0	0	0	0	1	0	0	0	11613	1838	64	5	258	5	PCDHB2	5	140474630	Missense_Mutation	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	108067601	140474630	40440630	34	84100											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093443	28093443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtggctgaggccagaatgCcacaccaaggagcagatttt	12	7	12	10	0	0	3	0	1	0	2	0	4	0	4	3	3	2	2	3	3	2	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:28093443C>T	ENST00000340487.4	+	2	371	c.222C>T	c.(220-222)tgC>tgT	p.C74C	RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	74	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCCAGAATGCCACACCAAGG	0.547													5	166					0	0	0	0	T	28093443	C	T	28093443	2	4	427	1	0	0	0	0	0	0	0	1	18321	747	26	4		4	ZSCAN16	6	28093443	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		28093443	143021624	35	84101											
DHX16	8449	broad.mit.edu	37	chr6	30638712	30638712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgactctggcttctctGtctgctgtttactccccctg	2	16	7	16	1	3	0	0	0	3	0	6	1	5	0	3	1	2	3	3	1	1	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:30638712G>A	ENST00000376442.3	-	3	659	c.464C>T	c.(463-465)aCa>aTa	p.T155I		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	155					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TGGCTTCTCTGTCTGCTGTTT	0.567													19	83					0	0	0	0	A	30638712	G	A	30638712	3	1	427	1	0	0	0	0	1	0	0	0	4539	1377	48	4	2733	4	DHX16	6	30638712	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	2545269	30638712	140476355	36	84102											
ZNF318	24149	broad.mit.edu	37	chr6	43323362	43323362	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctggagctgaagacggCagggagcttgccttctgcct	8	8	14	11	1	1	2	0	1	1	1	1	4	1	4	2	3	5	4	2	3	1	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:43323362C>G	ENST00000361428.2	-	4	1787	c.1710G>C	c.(1708-1710)ctG>ctC	p.L570L	ZNF318_ENST00000318149.3_Silent_p.L570L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	570					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGAAGACGGCAGGGAGCTTG	0.473													32	67					0	0	0	0	G	43323362	C	G	43323362	2	3	427	1	0	0	0	0	0	0	0	1	17931	697	25	4		4	ZNF318	6	43323362	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	12684650	43323362	127791705	37	84103											
GPR115	221393	broad.mit.edu	37	chr6	47680273	47680273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaacatctggaaatattGcatttatagtggagttatta	16	14	7	4	0	1	0	0	0	1	0	1	2	1	2	0	2	3	2	0	2	8	7			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:47680273G>A	ENST00000283303.2	+	5	739	c.481G>A	c.(481-483)Gca>Aca	p.A161T	GPR115_ENST00000327753.3_Missense_Mutation_p.A161T|GPR115_ENST00000371220.1_Missense_Mutation_p.A218T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAATATTGCATTTATAGT	0.333													10	57					0	0	0	0	A	47680273	G	A	47680273	3	1	427	1	0	0	0	0	1	0	0	0	6681	1319	46	4	495	4	GPR115	6	47680273	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	4356911	47680273	123434794	38	84104											
LGSN	51557	broad.mit.edu	37	chr6	63995530	63995530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtcttagacctggacaCgccgtggaggtctgttgctt	7	12	13	9	2	2	1	0	0	2	1	2	4	2	3	2	3	1	2	2	3	2	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:63995530C>T	ENST00000370658.5	-	3	325	c.292G>A	c.(292-294)Gtg>Atg	p.V98M	LGSN_ENST00000370657.4_Missense_Mutation_p.V98M	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	98					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GACCTGGACACGCCGTGGAGG	0.428													4	25					0	0	0	0	T	63995530	C	T	63995530	3	4	427	1	0	0	0	0	1	0	0	0	8813	536	19	1	1245	1	LGSN	6	63995530	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	16315257	63995530	107119537	39	84105											
ZNF292	23036	broad.mit.edu	37	chr6	87968276	87968276	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccactaattgcacctaacgcTtcccaaaacttggtaacaag	14	9	5	13	1	0	0	0	0	0	0	1	0	1	0	3	1	4	3	3	1	6	6			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:87968276T>G	ENST00000369577.3	+	8	4972	c.4929T>G	c.(4927-4929)gcT>gcG	p.A1643A	ZNF292_ENST00000339907.4_Silent_p.A1638A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CACCTAACGCTTCCCAAAACT	0.383													7	31					0	0	0	0	G	87968276	T	G	87968276	2	3	427	1	0	0	0	0	0	0	0	1	17921	1596	56	5		5	ZNF292	6	87968276	Silent	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	23972746	87968276	83146791	40	84106											
ROS1	6098	broad.mit.edu	37	chr6	117650502	117650502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacacataccttatctcaaGgatatagtatgtaattctac	15	13	4	9	0	2	0	1	0	2	0	3	1	2	1	1	1	2	2	1	1	8	8			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:117650502G>A	ENST00000368508.3	-	32	5554	c.5356C>T	c.(5356-5358)Ctt>Ttt	p.L1786F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.L1780F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1786	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTATCTCAAGGATATAGTAT	0.308			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								8	38					0	0	0	0	A	117650502	G	A	117650502	3	1	427	1	0	0	0	0	1	0	0	0	13616	1000	35	4	1735	4	ROS1	6	117650502	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	29682226	117650502	53464565	41	84107											
HOXA7	3204	broad.mit.edu	37	chr7	27195954	27195954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcgtcggcgcccaggcCgtagccggacgcaaaggggc	7	3	18	13	6	0	0	0	0	0	0	1	1	0	1	3	6	1	3	3	6	3	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:27195954C>T	ENST00000242159.3	-	1	344	c.211G>A	c.(211-213)Ggc>Agc	p.G71S		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	71					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GCGCCCAGGCCGTAGCCGGAC	0.667													15	76					0	0	0	0	T	27195954	C	T	27195954	3	4	427	1	0	0	0	0	1	0	0	0	7347	652	23	1	489	1	HOXA7	7	27195954	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		27195954	131942709	42	84108											
PCLO	27445	broad.mit.edu	37	chr7	82538324	82538324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttcctcacgacgcagatGataggctttggacaccaagg	10	10	11	10	2	1	2	1	1	0	1	2	4	2	3	2	3	0	3	2	3	2	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:82538324G>A	ENST00000423517.2	-	8	13643	c.13306C>T	c.(13306-13308)Cat>Tat	p.H4436Y	PCLO_ENST00000333891.8_Missense_Mutation_p.H4436Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4367	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGACGCAGATGATAGGCTTTG	0.458													4	40					0	0	0	0	A	82538324	G	A	82538324	3	1	427	1	0	0	0	0	1	0	0	0	11654	1290	45	2	2211	2	PCLO	7	82538324	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	55342370	82538324	76600339	43	84109											
GRM3	2913	broad.mit.edu	37	chr7	86493653	86493653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggaagtcctcgactcCaccacctcatctctgtgatt	7	10	10	14	2	2	1	1	1	1	0	6	3	4	2	4	2	0	0	4	2	1	1	rs144561011	by1000genomes	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:86493653C>A	ENST00000439827.1	+	5	1726	c.1555C>A	c.(1555-1557)Cac>Aac	p.H519N	GRM3_ENST00000536043.1_Silent_p.S746S|GRM3_ENST00000361669.2_Silent_p.S874S|GRM3_ENST00000394720.2_Missense_Mutation_p.H517N|GRM3_ENST00000546348.1_Silent_p.S466S			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTCGACTCCACCACCTCAT	0.473													12	135					0.00185496	0.00188562	1	0	A	86493653	C	A	86493653	3	1	427	1	0	0	0	0	1	0	0	0	6848	581	21	4	2640	4	GRM3	7	86493653	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	3955329	86493653	72645010	44	84110											
PDK4	5166	broad.mit.edu	37	chr7	95218960	95218960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtatcataccttaaataGttcaaagagcatatgatgga	17	11	8	5	0	2	2	2	1	0	1	2	4	2	3	1	1	2	3	1	1	8	6			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:95218960G>T	ENST00000005178.5	-	7	960	c.763C>A	c.(763-765)Cta>Ata	p.L255I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	255	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACCTTAAATAGTTCAAAGAGC	0.284													4	103					0.014758	0.014879	1	0	T	95218960	G	T	95218960	3	4	427	1	0	0	0	0	1	0	0	0	11749	1020	36	4	492	4	PDK4	7	95218960	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	8725307	95218960	63919703	45	84111											
SLC26A3	1811	broad.mit.edu	37	chr7	107412532	107412532	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatacacatctaccttgaTcctgataaattcttgcaaaa	15	13	4	9	0	2	2	0	2	2	0	3	3	3	2	2	0	3	1	2	0	7	7			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:107412532T>A	ENST00000340010.5	-	18	2213	c.2029A>T	c.(2029-2031)Atc>Ttc	p.I677F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.I564F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	677	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTACCTTGATCCTGATAAAT	0.333													11	19					0	0	0	0	A	107412532	T	A	107412532	3	1	427	1	0	0	0	0	1	0	0	0	14606	1435	50	5	281	5	SLC26A3	7	107412532	Missense_Mutation	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	12193572	107412532	51726131	46	84112											
UBN2	254048	broad.mit.edu	37	chr7	138957129	138957130	+	Frame_Shift_Del	DEL	AA	AA	-																															tgttagcaatgtcatgcctgAacagctatttaaataccagg																										TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:138957129_138957130delAA	ENST00000288561.8	+	9	1658_1659	c.1409_1410delAA	c.(1408-1410)gfs	p.E470fs	UBN2_ENST00000473989.2_Frame_Shift_Del_p.E553fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	553										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCATGCCTGAACAGCTATTTA	0.386													8	91	---	---	---	---					-	138957130	AA	-	138957129	7	5	427	1	0	1	0	1	0	0	0	0	16989	246	9	0	1692	0	UBN2	7	138957129	Frame_Shift_Del	DEL	AA	TCGA-HD-A6HZ-01A-12D-A31L-08	31544597	138957129	20181534	47	84113											
ZNF282	8427	broad.mit.edu	37	chr7	148903853	148903853	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtggaagaacttggacgaAtggcagaaggagctttataa	15	8	14	4	1	0	2	0	0	0	2	0	7	0	5	0	4	2	2	0	4	6	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:148903853A>T	ENST00000262085.3	+	3	756	c.651A>T	c.(649-651)gaA>gaT	p.E217D	ZNF282_ENST00000479907.1_Missense_Mutation_p.E217D	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	217	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ACTTGGACGAATGGCAGAAGG	0.483													5	131					0	0	0	0	T	148903853	A	T	148903853	3	4	427	1	0	0	0	0	1	0	0	0	17914	98	4	5	661	5	ZNF282	7	148903853	Missense_Mutation	SNP	A	TCGA-HD-A6HZ-01A-12D-A31L-08	9946724	148903853	10234810	48	84114											
SLC18A1	6570	broad.mit.edu	37	chr8	20005172	20005172	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagacactcccatacacCgaggtgtggcgtagatccac	10	7	11	13	3	0	2	0	0	0	2	2	3	2	2	3	2	1	2	3	2	3	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr8:20005172C>T	ENST00000440926.1	-	15	1742	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	SLC18A1_ENST00000381608.4_Silent_p.S424S|SLC18A1_ENST00000437980.1_Silent_p.S424S|SLC18A1_ENST00000276373.5_Silent_p.S424S|SLC18A1_ENST00000519026.1_Silent_p.S392S|SLC18A1_ENST00000265808.7_Silent_p.S392S	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	424					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TCCCATACACCGAGGTGTGGC	0.557													6	26					0	0	0	0	T	20005172	C	T	20005172	2	4	427	1	0	0	0	0	0	0	0	1	14513	639	23	1		1	SLC18A1	8	20005172	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		20005172	126358850	49	84115											
RECQL4	9401	broad.mit.edu	37	chr8	145737553	145737553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctggaaggttctgcgCagacgggccagggcctggcg	7	5	18	11	3	1	1	0	0	1	1	1	2	1	2	3	6	1	2	3	6	2	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr8:145737553C>T	ENST00000428558.2	-	19	3251	c.3210G>A	c.(3208-3210)ctG>ctA	p.L1070L	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1070					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGTTCTGCGCAGACGGGCCA	0.667			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	25					0	0	0	0	T	145737553	C	T	145737553	2	4	427	1	0	0	0	0	0	0	0	1	13284	697	25	4		4	RECQL4	8	145737553	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	125732381	145737553	626469	50	84116											
KLHL9	55958	broad.mit.edu	37	chr9	21334148	21334148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggaaatcgaatattcttCattaactttgcagcataatc	14	14	6	7	1	2	0	1	0	1	0	4	2	2	1	0	1	3	2	0	1	5	6			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:21334148C>T	ENST00000359039.4	-	1	1231	c.711G>A	c.(709-711)atG>atA	p.M237I	KLHL9_ENST00000537938.1_Missense_Mutation_p.M169I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	237	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GAATATTCTTCATTAACTTTG	0.423													4	61					0	0	0	0	T	21334148	C	T	21334148	3	4	427	1	0	0	0	0	1	0	0	0	8448	826	29	2	1146	2	KLHL9	9	21334148	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		21334148	119879283	51	84117											
SECISBP2	79048	broad.mit.edu	37	chr9	91940847	91940847	+	Frame_Shift_Del	DEL	G	G	-																															gagaaaaaaacgtatgatcaGcaaaagtttgacagtgaaag																										TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:91940847delG	ENST00000375807.3	+	4	539	c.468delG	c.(466-468)cafs	p.Q157fs	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Frame_Shift_Del_p.Q84fs|SECISBP2_ENST00000534113.2_Frame_Shift_Del_p.Q89fs	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	157					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CGTATGATCAGCAAAAGTTTG	0.343													10	51	---	---	---	---					-	91940847	G	-	91940847	7	5	427	1	0	1	0	1	0	0	0	0	14093	962	34	0	482	0	SECISBP2	9	91940847	Frame_Shift_Del	DEL	G	TCGA-HD-A6HZ-01A-12D-A31L-08	70606699	91940847	49272584	52	84118											
TSTD2	158427	broad.mit.edu	37	chr9	100388079	100388079	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagacgaaagactcttTgaggtgctcaatgtcacagc	11	10	10	10	1	4	3	2	1	2	2	4	4	4	3	0	1	3	2	0	1	2	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:100388079T>G	ENST00000341170.4	-	3	748	c.366A>C	c.(364-366)tcA>tcC	p.S122S	TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	122										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AAAGACTCTTTGAGGTGCTCA	0.433													18	94					0	0	0	0	G	100388079	T	G	100388079	2	3	427	1	0	0	0	0	0	0	0	1	16771	1799	63	5		5	TSTD2	9	100388079	Silent	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	8447232	100388079	40825352	53	84119											
COL27A1	85301	broad.mit.edu	37	chr9	117005797	117005797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttgcagggtcagcctgGcaggaaggggtttcctggga	6	10	17	8	0	2	0	1	0	1	0	3	2	3	2	2	6	2	4	2	6	1	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:117005797G>A	ENST00000356083.3	+	23	3282	c.2891G>A	c.(2890-2892)gGc>gAc	p.G964D		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	964	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGTCAGCCTGGCAGGAAGGGG	0.622													16	23					0	0	0	0	A	117005797	G	A	117005797	3	1	427	1	0	0	0	0	1	0	0	0	3715	1203	42	4	2981	4	COL27A1	9	117005797	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	16617718	117005797	24207634	54	84120											
SEC16A	9919	broad.mit.edu	37	chr9	139355672	139355672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgtccatcttacttgCaagtagcagagcgtgacccc	8	9	10	14	2	1	2	0	1	1	1	2	2	2	2	4	1	4	4	4	1	3	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:139355672C>T	ENST00000313050.7	-	11	5021	c.4948G>A	c.(4948-4950)Gca>Aca	p.A1650T	SEC16A_ENST00000371706.3_Missense_Mutation_p.A1472T|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1472T|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1472T	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1472					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCTTACTTGCAAGTAGCAGA	0.592													5	9					0	0	0	0	T	139355672	C	T	139355672	3	4	427	1	0	0	0	0	1	0	0	0	14073	710	25	4	2205	4	SEC16A	9	139355672	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	22349875	139355672	1857759	55	84121											
SLC18A3	6572	broad.mit.edu	37	chr10	50819604	50819604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcggctgcacgggctcGggccaacctgccagtgggca	5	5	16	15	4	0	0	0	0	0	0	2	0	0	0	3	5	3	4	3	5	1	0			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr10:50819604G>A	ENST00000374115.3	+	1	1258	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	273					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCACGGGCTCGGGCCAACCTG	0.662													14	59					0	0	0	0	A	50819604	G	A	50819604	3	1	427	1	0	0	0	0	1	0	0	0	14515	1116	39	1	820	1	SLC18A3	10	50819604	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		50819604	84715143	56	84122											
LDB3	11155	broad.mit.edu	37	chr10	88459093	88459093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattgcgcaactggcacCatggcctttcagcccaaatc	11	8	7	15	1	1	0	1	0	0	0	2	0	1	0	4	2	3	2	4	2	3	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr10:88459093C>T	ENST00000372056.4	+	8	1182	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.H319Y|LDB3_ENST00000372066.3_Missense_Mutation_p.H272Y|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000542786.1_3'UTR	NM_001171611.1	NP_001165082.1	O75112	LDB3_HUMAN	LIM domain binding 3	0						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CAACTGGCACCATGGCCTTTC	0.517													17	99					0	0	0	0	T	88459093	C	T	88459093	3	4	427	1	0	0	0	0	1	0	0	0	8750	594	21	4	1216	4	LDB3	10	88459093	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	37639489	88459093	47075654	57	84123											
APBB1	322	broad.mit.edu	37	chr11	6422634	6422634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtccatttaccaagcagCgggcattacgccgttcggcc	9	8	11	13	4	0	1	0	0	0	1	2	1	1	1	4	2	4	3	4	2	3	4	rs144723218		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr11:6422634C>T	ENST00000389906.2	-	10	1628	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	APBB1_ENST00000530885.1_Missense_Mutation_p.R288H|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000299402.6_Missense_Mutation_p.R508H|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R508H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	510					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TACCAAGCAGCGGGCATTACG	0.562													13	37					0	0	0	0	T	6422634	C	T	6422634	3	4	427	1	0	0	0	0	1	0	0	0	760	768	27	1	623	1	APBB1	11	6422634	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		6422634	128583882	58	84124											
SIK2	23235	broad.mit.edu	37	chr11	111594274	111594274	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaactgcaggcctatttTaatcagatgcagatagcaga	13	11	8	9	0	2	3	2	0	1	3	3	3	2	3	1	1	4	3	1	1	4	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr11:111594274T>C	ENST00000304987.3	+	15	2375	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	734					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGGCCTATTTTAATCAGATGC	0.502													25	143					0	0	0	0	C	111594274	T	C	111594274	2	2	427	1	0	0	0	0	0	0	0	1	14406	1751	61	5		5	SIK2	11	111594274	Silent	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	105171640	111594274	23412242	59	84125											
FOXJ2	55810	broad.mit.edu	37	chr12	8196668	8196668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacttcagagccccacatCtatagccagctacagccagg	11	7	8	15	0	3	1	2	0	1	1	3	1	3	1	4	1	5	1	4	1	3	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:8196668C>G	ENST00000162391.3	+	5	1744	c.599C>G	c.(598-600)tCt>tGt	p.S200C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S200C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	200					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		AGCCCCACATCTATAGCCAGC	0.537													13	112					0	0	0	0	G	8196668	C	G	8196668	3	3	427	1	0	0	0	0	1	0	0	0	6059	913	32	2	613	2	FOXJ2	12	8196668	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		8196668	125655227	60	84126											
OR6C68	403284	broad.mit.edu	37	chr12	55887079	55887079	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgactcactcaaaaaaatTgcatttcgtttaaaaaagta	18	12	4	7	1	2	1	2	1	0	0	3	1	2	1	0	0	1	3	0	0	7	5			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:55887079T>A	ENST00000379662.1	+	1	933	c.933T>A	c.(931-933)atT>atA	p.I311I	RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Silent_p.I306I|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCAAAAAAATTGCATTTCGTT	0.289													8	16					0	0	0	0	A	55887079	T	A	55887079	2	1	427	1	0	0	0	0	0	0	0	1	11267	1800	63	5		5	OR6C68	12	55887079	Silent	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	47690411	55887079	77964816	61	84127											
GRIP1	23426	broad.mit.edu	37	chr12	66935717	66935717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagctcgacgactgtggaGcccttgaattcctctgttaa	9	12	9	11	2	2	1	1	1	1	0	4	4	3	2	2	1	2	2	2	1	2	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:66935717G>A	ENST00000359742.4	-	3	390	c.150C>T	c.(148-150)ggC>ggT	p.G50G	GRIP1_ENST00000286445.7_Silent_p.G50G|GRIP1_ENST00000398016.3_Silent_p.G50G			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	50					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGACTGTGGAGCCCTTGAATT	0.438													32	624					0	0	0	0	A	66935717	G	A	66935717	2	1	427	1	0	0	0	0	0	0	0	1	6837	958	34	4		4	GRIP1	12	66935717	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	11048638	66935717	66916178	62	84128											
DUSP6	1848	broad.mit.edu	37	chr12	89745800	89745800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgcgaagggcacgggtCtgagcgtatctatcatgggg	8	7	16	10	5	3	1	1	1	2	0	3	3	3	1	1	4	1	2	1	4	3	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:89745800C>A	ENST00000279488.7	-	1	1248	c.17G>T	c.(16-18)aGa>aTa	p.R6I	DUSP6_ENST00000308385.6_Missense_Mutation_p.R6I	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	6					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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 tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GGGCACGGGTCTGAGCGTATC	0.677													5	136					1.23904e-05	1.30258e-05	1	0	A	89745800	C	A	89745800	3	1	427	1	0	0	0	0	1	0	0	0	4865	913	32	2	1140	2	DUSP6	12	89745800	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	22810083	89745800	44106095	63	84129											
USP30	84749	broad.mit.edu	37	chr12	109520485	109520485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagattgaagccaagggaacGttgaacggggaaaaggtgga	15	5	16	5	2	0	3	0	2	0	1	0	6	0	6	1	5	3	1	1	5	6	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:109520485G>A	ENST00000257548.5	+	10	978	c.885G>A	c.(883-885)acG>acA	p.T295T	USP30_ENST00000392784.2_Silent_p.T264T	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	295					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.T286T(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCAAGGGAACGTTGAACGGGG	0.453													17	39					0	0	0	0	A	109520485	G	A	109520485	2	1	427	1	0	0	0	0	0	0	0	1	17157	1132	40	1		1	USP30	12	109520485	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	19774685	109520485	24331410	64	84130											
NDRG2	57447	broad.mit.edu	37	chr14	21490276	21490276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggcatccacatgaacccGcacaaagttctgaatgattt	13	9	9	10	1	1	3	0	3	1	0	2	3	2	3	2	2	1	3	2	2	3	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:21490276G>A	ENST00000556147.1	-	5	1229	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	NDRG2_ENST00000298687.5_Missense_Mutation_p.R97W|NDRG2_ENST00000397847.2_Missense_Mutation_p.R97W|NDRG2_ENST00000350792.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397855.3_Missense_Mutation_p.R83W|NDRG2_ENST00000298684.5_Missense_Mutation_p.R83W|NDRG2_ENST00000397853.3_Missense_Mutation_p.R97W|NDRG2_ENST00000360463.3_Missense_Mutation_p.R83W|NDRG2_ENST00000403829.3_Missense_Mutation_p.R93W|NDRG2_ENST00000397856.3_Missense_Mutation_p.R83W|NDRG2_ENST00000554104.1_Missense_Mutation_p.R10W|NDRG2_ENST00000553503.1_Missense_Mutation_p.R83W|NDRG2_ENST00000397858.1_Missense_Mutation_p.R97W|NDRG2_ENST00000397851.2_Missense_Mutation_p.R97W|NDRG2_ENST00000554143.1_Missense_Mutation_p.R83W|NDRG2_ENST00000397844.2_Missense_Mutation_p.R83W|NDRG2_ENST00000555158.1_Missense_Mutation_p.R83W			Q9UN36	NDRG2_HUMAN	NDRG family member 2	97					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACATGAACCCGCACAAAGTTC	0.483													4	147					0	0	0	0	A	21490276	G	A	21490276	3	1	427	1	0	0	0	0	1	0	0	0	10322	1086	38	1	874	1	NDRG2	14	21490276	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		21490276	85859264	65	84131											
RBM23	55147	broad.mit.edu	37	chr14	23374209	23374209	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggccatggctgccagtcGgtttttctctgcctggggaa	4	13	14	10	1	1	0	0	0	1	0	3	1	1	1	3	5	2	3	3	5	1	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:23374209G>A	ENST00000359890.3	-	9	934	c.739C>T	c.(739-741)Cga>Tga	p.R247*	RBM23_ENST00000346528.5_Nonsense_Mutation_p.R213*|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000399922.2_Nonsense_Mutation_p.R231*|RBM23_ENST00000542016.2_Nonsense_Mutation_p.R77*	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	247					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCTGCCAGTCGGTTTTTCTCT	0.512													22	137					0	0	0	0	A	23374209	G	A	23374209	4	1	427	1	0	0	0	0	0	1	0	0	13205	1124	39	1	604	1	RBM23	14	23374209	Nonsense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	1883933	23374209	83975331	66	84132											
UBR7	55148	broad.mit.edu	37	chr14	93685022	93685022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaggatgatgtccgggagGttaaagtagagcagaacagt	15	7	15	4	1	0	3	0	1	0	2	1	6	1	5	1	3	2	3	1	3	5	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:93685022G>A	ENST00000013070.6	+	7	987	c.751G>A	c.(751-753)Gtt>Att	p.V251I	UBR7_ENST00000416753.1_Missense_Mutation_p.V175I	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	251							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						TGTCCGGGAGGTTAAAGTAGA	0.448													19	64					0	0	0	0	A	93685022	G	A	93685022	3	1	427	1	0	0	0	0	1	0	0	0	17002	1261	44	4	777	4	UBR7	14	93685022	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	70310813	93685022	13664518	67	84133											
AHNAK2	113146	broad.mit.edu	37	chr14	105404671	105404671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttttcttggtaggagatGaggagaaccctaatttggga	10	13	13	5	0	1	3	0	1	1	2	1	6	1	4	1	4	2	2	1	4	3	6			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105404671G>A	ENST00000333244.5	-	7	17236	c.17117C>T	c.(17116-17118)tCa>tTa	p.S5706L	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S704L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5706						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTAGGAGATGAGGAGAACCC	0.473													3	20					0	0	0	0	A	105404671	G	A	105404671	3	1	427	1	0	0	0	0	1	0	0	0	415	1294	45	2	274	2	AHNAK2	14	105404671	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	11719649	105404671	1944869	68	84134			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105406038	105406038	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttctgcatctgcctctggGagctgtagggacatagctgc	7	11	12	11	0	3	0	0	0	3	0	3	2	3	2	1	2	5	4	1	2	2	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105406038G>T	ENST00000333244.5	-	7	15869	c.15750C>A	c.(15748-15750)ctC>ctA	p.L5250L	AHNAK2_ENST00000557457.1_Silent_p.L248L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5250						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGCCTCTGGGAGCTGTAGGG	0.517													53	282					2.47907e-22	2.87665e-22	1	0	T	105406038	G	T	105406038	2	4	427	1	0	0	0	0	0	0	0	1	415	1161	41	2		2	AHNAK2	14	105406038	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	1367	105406038	1943502	69	84135			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105407653	105407653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaggagttttggtagaaGaaaatgaaactttgggcact	13	13	11	4	0	0	3	0	1	0	2	0	4	0	4	0	3	1	3	0	3	6	6			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105407653G>A	ENST00000333244.5	-	7	14254	c.14135C>T	c.(14134-14136)tCt>tTt	p.S4712F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4712						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGGTAGAAGAAAATGAAAC	0.398													13	62					0	0	0	0	A	105407653	G	A	105407653	3	1	427	1	0	0	0	0	1	0	0	0	415	942	33	2	3256	2	AHNAK2	14	105407653	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	1615	105407653	1941887	70	84136			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105410723	105410723	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtcggcagaagggggctGaatgctgaggtcagtggtct	8	8	18	7	1	2	3	1	2	1	1	3	3	2	3	0	6	1	3	0	6	2	0			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105410723G>A	ENST00000333244.5	-	7	11184	c.11065C>T	c.(11065-11067)Cag>Tag	p.Q3689*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3689						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAAGGGGGCTGAATGCTGAGG	0.642													30	264					0	0	0	0	A	105410723	G	A	105410723	4	1	427	1	0	0	0	0	0	1	0	0	415	1299	45	2	6326	2	AHNAK2	14	105410723	Nonsense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	3070	105410723	1938817	71	84137			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105413482	105413482	+	Missense_Mutation	SNP	G	G	A																															gagacatcttcacatcggggGctgtcacttccgccttgggg																										TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105413482G>A	ENST00000333244.5	-	7	8425	c.8306C>T	c.(8305-8307)gCc>gTc	p.A2769V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2769						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCGGGGGCTGTCACTTC	0.617													33	251					0	0	0	0	A	105413482	G	A	105413482	3	1	427	1	0	0	0	0	1	0	0	0	415	1203	42	4	9085	4	AHNAK2	14	105413482	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	2759	105413482	1936058	72	84138	1059	2	1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105413483	105413483	+	Missense_Mutation	SNP	C	C	A																															agacatcttcacatcgggggCtgtcacttccgccttggggc																										TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105413483C>A	ENST00000333244.5	-	7	8424	c.8305G>T	c.(8305-8307)Gcc>Tcc	p.A2769S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2769						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCGGGGGCTGTCACTTCC	0.617													33	256					1.67305e-13	1.90542e-13	1	0	A	105413483	C	A	105413483	3	1	427	1	0	0	0	0	1	0	0	0	415	797	28	4	9086	4	AHNAK2	14	105413483	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	1	105413483	1936057	73	84139	1059	2	1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105414045	105414045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctagctgggggcccttGaggtccatttcaggcatctt	7	12	11	11	0	3	1	1	1	2	0	4	1	4	1	2	4	1	2	2	4	1	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105414045G>A	ENST00000333244.5	-	7	7862	c.7743C>T	c.(7741-7743)ctC>ctT	p.L2581L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2581						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGGCCCTTGAGGTCCATTT	0.617													37	271					0	0	0	0	A	105414045	G	A	105414045	2	1	427	1	0	0	0	0	0	0	0	1	415	1277	45	2		2	AHNAK2	14	105414045	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	562	105414045	1935495	74	84140			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105414628	105414628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccggcacggggccctctGggagtttcacatccacttgg	5	9	12	15	2	2	0	1	0	1	0	4	1	4	1	4	5	0	2	4	5	0	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105414628G>T	ENST00000333244.5	-	7	7279	c.7160C>A	c.(7159-7161)cCa>cAa	p.P2387Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2387						nucleus		p.K2385fs*18(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)			GGGGCCCTCTGGGAGTTTCAC	0.637													36	292					8.73648e-17	1.00429e-16	1	0	T	105414628	G	T	105414628	3	4	427	1	0	0	0	0	1	0	0	0	415	1348	47	4	10231	4	AHNAK2	14	105414628	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	583	105414628	1934912	75	84141			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105415385	105415385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcaggtccccctgcaGatgcgcactatccagcttgg	7	8	12	14	1	1	1	1	0	0	1	3	1	3	1	3	3	3	3	3	3	1	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105415385G>T	ENST00000333244.5	-	7	6522	c.6403C>A	c.(6403-6405)Ctg>Atg	p.L2135M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2135						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCCCTGCAGATGCGCACTA	0.582													57	160					2.80097e-13	3.16072e-13	1	0	T	105415385	G	T	105415385	3	4	427	1	0	0	0	0	1	0	0	0	415	933	33	2	10988	2	AHNAK2	14	105415385	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	757	105415385	1934155	76	84142			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105419160	105419160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgaggtcagtggccttGaggtccccctgcatggagga	7	9	15	10	0	1	2	1	2	0	0	2	4	2	4	3	5	2	2	3	5	0	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105419160G>A	ENST00000333244.5	-	7	2747	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	876						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTGGCCTTGAGGTCCCCCT	0.657													38	266					0	0	0	0	A	105419160	G	A	105419160	2	1	427	1	0	0	0	0	0	0	0	1	415	1277	45	2		2	AHNAK2	14	105419160	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	3775	105419160	1930380	77	84143			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105419469	105419469	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtccagcttggggcccttGaggtccactttgggcatctt	5	12	13	11	0	1	1	0	1	1	0	3	1	3	1	3	5	1	2	3	5	0	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105419469G>C	ENST00000333244.5	-	7	2438	c.2319C>G	c.(2317-2319)ctC>ctG	p.L773L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	773						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCCTTGAGGTCCACTT	0.627													40	257					0	0	0	0	C	105419469	G	C	105419469	2	2	427	1	0	0	0	0	0	0	0	1	415	1277	45	2		2	AHNAK2	14	105419469	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	309	105419469	1930071	78	84144			1	125		12	11	15556	N	G_C	5.79367e-20
AHNAK2	113146	broad.mit.edu	37	chr14	105420226	105420226	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggccagtacccgcttttGaggacgcatcctgtctcttc	6	12	9	14	2	2	1	1	1	1	0	5	2	3	2	3	2	1	3	3	2	1	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105420226G>C	ENST00000333244.5	-	7	1681	c.1562C>G	c.(1561-1563)tCa>tGa	p.S521*	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	521						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCCGCTTTTGAGGACGCATC	0.537													22	126					0	0	0	0	C	105420226	G	C	105420226	4	2	427	1	0	0	0	0	0	1	0	0	415	1294	45	2	15829	2	AHNAK2	14	105420226	Nonsense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	757	105420226	1929314	79	84145			1	125		12	11	15556	N	G_C	5.79367e-20
MKRN3	7681	broad.mit.edu	37	chr15	23811019	23811019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagggtgtgtctgggccGgaccttcccgtctgtgagcc	4	9	17	11	2	2	1	0	1	2	0	3	3	3	3	4	4	1	0	4	4	0	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr15:23811019G>A	ENST00000314520.3	+	1	566	c.90G>A	c.(88-90)ccG>ccA	p.P30P	MKRN3_ENST00000568252.1_Silent_p.P30P|MKRN3_ENST00000564592.1_Silent_p.P30P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	30						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCTGGGCCGGACCTTCCCG	0.672													11	32					0	0	0	0	A	23811019	G	A	23811019	2	1	427	1	0	0	0	0	0	0	0	1	9677	1103	39	1		1	MKRN3	15	23811019	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		23811019	78720373	80	84146											
KREMEN2	79412	broad.mit.edu	37	chr16	3016751	3016751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accagatctgtttcggccacCctggacagctgtgtggcggc	6	9	13	13	2	1	1	0	0	1	1	2	2	1	2	3	4	1	2	3	4	0	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:3016751C>T	ENST00000572045.1	+	5	900	c.595C>T	c.(595-597)Cct>Tct	p.P199S	KREMEN2_ENST00000303746.5_Missense_Mutation_p.P199S|KREMEN2_ENST00000575769.1_Missense_Mutation_p.P199S|KREMEN2_ENST00000575885.1_Intron|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000319500.6_Missense_Mutation_p.P199S	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	199	WSC.			Missing (in Ref. 2; BAC11365).	Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						TTTCGGCCACCCTGGACAGCT	0.711													7	25					0	0	0	0	T	3016751	C	T	3016751	3	4	427	1	0	0	0	0	1	0	0	0	8495	623	22	4	613	4	KREMEN2	16	3016751	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		3016751	87338002	81	84147											
KCTD13	253980	broad.mit.edu	37	chr16	29918258	29918258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatatggcgccggacatGgatcctgcggacacggtgct	7	8	16	10	4	0	1	0	1	0	0	1	4	1	4	2	6	2	1	2	6	1	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:29918258G>A	ENST00000568000.1	-	6	1926	c.925C>T	c.(925-927)Cat>Tat	p.H309Y		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	309					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CGCCGGACATGGATCCTGCGG	0.637													22	92					0	0	0	0	A	29918258	G	A	29918258	3	1	427	1	0	0	0	0	1	0	0	0	8153	1348	47	4	68	4	KCTD13	16	29918258	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	26901507	29918258	60436495	82	84148											
ESRP2	80004	broad.mit.edu	37	chr16	68265275	68265275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcatcgcccgatggcCggccctgtgcacaccatctt	7	8	11	15	3	1	1	0	1	1	0	2	2	1	1	4	3	1	2	4	3	1	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:68265275C>T	ENST00000473183.2	-	12	2055	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ESRP2_ENST00000565858.1_Missense_Mutation_p.R516Q			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	516	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCCCGATGGCCGGCCCTGTGC	0.542													4	38					0	0	0	0	T	68265275	C	T	68265275	3	4	427	1	0	0	0	0	1	0	0	0	5297	652	23	1	652	1	ESRP2	16	68265275	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	38347017	68265275	22089478	83	84149											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			30	66					0	0	0	0	A	7577022	G	A	7577022	4	1	427	1	0	0	0	0	0	1	0	0	16476	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		7577022	73618188	84	84150											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572		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)			11	67					0	0	0	0	C	7577574	T	C	7577574	3	2	427	1	0	0	0	0	1	0	0	0	16476	1638	57	5	583	5	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-HD-A6HZ-01A-12D-A31L-08	552	7577574	73617636	85	84151											
ARHGEF15	22899	broad.mit.edu	37	chr17	8222393	8222393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagcaggttccggatcCatctggaccccctaccttcc	6	8	9	18	1	1	0	0	0	1	0	4	2	4	2	7	4	2	2	7	4	1	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:8222393C>T	ENST00000361926.3	+	13	2212	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P701L|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	701					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTTCCGGATCCATCTGGACCC	0.617													35	88					0	0	0	0	T	8222393	C	T	8222393	3	4	427	1	0	0	0	0	1	0	0	0	900	594	21	4	2148	4	ARHGEF15	17	8222393	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	644819	8222393	72972817	86	84152											
PROCA1	147011	broad.mit.edu	37	chr17	27031353	27031353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggaatcgctccacatgctCctcctccggtgtgagctcaa	7	9	9	16	3	1	1	1	1	0	0	6	2	5	2	5	2	2	3	5	2	2	0			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:27031353C>T	ENST00000301039.2	-	3	521	c.328G>A	c.(328-330)Gag>Aag	p.E110K	PROCA1_ENST00000439862.3_Missense_Mutation_p.E112K|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	138					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCACATGCTCCTCCTCCGGT	0.627													14	262					0	0	0	0	T	27031353	C	T	27031353	3	4	427	1	0	0	0	0	1	0	0	0	12626	864	30	2	690	2	PROCA1	17	27031353	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	18808960	27031353	54163857	87	84153											
KRT39	390792	broad.mit.edu	37	chr17	39120032	39120032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtagagacacctcagcttcGtatctttaaaaaccagatgg	13	10	8	10	2	2	2	1	0	1	2	3	3	2	2	2	1	2	3	2	1	5	5			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:39120032G>A	ENST00000355612.2	-	3	590	c.555C>T	c.(553-555)taC>taT	p.Y185Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	185	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CCTCAGCTTCGTATCTTTAAA	0.507													8	42					0	0	0	0	A	39120032	G	A	39120032	2	1	427	1	0	0	0	0	0	0	0	1	8528	1140	40	1		1	KRT39	17	39120032	Silent	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	12088679	39120032	42075178	88	84154											
KAT2A	2648	broad.mit.edu	37	chr17	40269510	40269510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacacccgccggttggcCttgggcgtcagtgagttgcc	6	8	14	13	3	1	1	1	1	0	0	1	1	1	1	4	3	3	3	4	3	1	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:40269510C>T	ENST00000225916.5	-	10	1586	c.1533G>A	c.(1531-1533)aaG>aaA	p.K511K		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	511	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCCGGTTGGCCTTGGGCGTCA	0.637													8	41					0	0	0	0	T	40269510	C	T	40269510	2	4	427	1	0	0	0	0	0	0	0	1	8034	680	24	4		4	KAT2A	17	40269510	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	1149478	40269510	40925700	89	84155											
MTMR4	9110	broad.mit.edu	37	chr17	56585544	56585544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacacaaccacgggaatccGcttccaggagcggaaggaag	14	4	12	11	3	0	0	0	0	0	0	2	4	2	4	3	4	3	1	3	4	5	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:56585544G>A	ENST00000323456.5	-	8	767	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	MTMR4_ENST00000579925.1_Missense_Mutation_p.R215W	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	215	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGGGAATCCGCTTCCAGGAG	0.517													5	52					0	0	0	0	A	56585544	G	A	56585544	3	1	427	1	0	0	0	0	1	0	0	0	10016	1086	38	1	2992	1	MTMR4	17	56585544	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	16316034	56585544	24609666	90	84156											
SLC38A10	124565	broad.mit.edu	37	chr17	79226454	79226454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaacaggaggctcgtggcGgtgggcctcgcccacaggca	8	4	17	12	3	0	0	0	0	0	0	2	2	0	2	2	7	1	2	2	7	1	0			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:79226454G>A	ENST00000374759.3	-	13	1869	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	SLC38A10_ENST00000288439.5_Missense_Mutation_p.R496C	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	496					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGCTCGTGGCGGTGGGCCTCG	0.627													12	52					0	0	0	0	A	79226454	G	A	79226454	3	1	427	1	0	0	0	0	1	0	0	0	14690	1116	39	1	2167	1	SLC38A10	17	79226454	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	22640910	79226454	1968756	91	84157											
GRIN3B	116444	broad.mit.edu	37	chr19	1005239	1005239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactggtccacgtggctggGcgtctttgcggccctgcacc	3	9	14	15	3	1	0	0	0	1	0	2	0	2	0	3	4	2	3	3	4	0	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:1005239G>C	ENST00000234389.3	+	3	1758	c.1739G>C	c.(1738-1740)gGc>gCc	p.G580A	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	580					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGTGGCTGGGCGTCTTTGCG	0.677													5	47					0	0	0	0	C	1005239	G	C	1005239	3	2	427	1	0	0	0	0	1	0	0	0	6834	1203	42	4	1749	4	GRIN3B	19	1005239	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		1005239	58123744	92	84158											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582727	15582727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgtctccccagccttgCgtgtcctggtggtagcgctg	3	11	13	14	3	1	0	0	0	1	0	3	1	2	0	5	2	3	2	5	2	1	2	rs147572500		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:15582727C>T	ENST00000292609.4	-	3	1446	c.1317G>A	c.(1315-1317)acG>acA	p.T439T	PGLYRP2_ENST00000340880.4_Silent_p.T439T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	439					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCCAGCCTTGCGTGTCCTGGT	0.672													10	51					0	0	0	0	T	15582727	C	T	15582727	2	4	427	1	0	0	0	0	0	0	0	1	11866	755	27	1		1	PGLYRP2	19	15582727	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	14577488	15582727	43546256	93	84159											
OR10H3	26532	broad.mit.edu	37	chr19	15852274	15852274	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcagccttcccccagcagctCctgcctgtcttgttcctgct	3	13	7	18	0	2	0	1	0	1	0	5	0	5	0	6	0	5	4	6	0	0	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:15852274C>G	ENST00000305892.1	+	1	72	c.72C>G	c.(70-72)ctC>ctG	p.L24L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCCAGCAGCTCCTGCCTGTCT	0.483													4	180					0	0	0	0	G	15852274	C	G	15852274	2	3	427	1	0	0	0	0	0	0	0	1	10978	842	30	2		2	OR10H3	19	15852274	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	269547	15852274	43276709	94	84160											
ZNF91	7644	broad.mit.edu	37	chr19	23544385	23544385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataaatgctttgccacattCtttacatttgaagggtttct	10	18	6	7	0	2	1	0	1	2	0	2	1	2	1	1	1	3	2	1	1	5	8			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:23544385C>G	ENST00000300619.7	-	4	1601	c.1396G>C	c.(1396-1398)Gaa>Caa	p.E466Q	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E434Q	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTTACATTTG	0.378													8	66					0	0	0	0	G	23544385	C	G	23544385	3	3	427	1	0	0	0	0	1	0	0	0	18293	922	32	2	2183	2	ZNF91	19	23544385	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	7692111	23544385	35584598	95	84161											
CCNE1	898	broad.mit.edu	37	chr19	30308111	30308111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacctgacaaagaagatgAtgaccgggtttacccaaact	15	7	8	11	1	0	5	0	3	0	2	0	5	0	5	3	1	2	1	3	1	4	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:30308111A>G	ENST00000262643.3	+	5	527	c.248A>G	c.(247-249)gAt>gGt	p.D83G	CCNE1_ENST00000444983.2_Missense_Mutation_p.D68G|CCNE1_ENST00000357943.5_Missense_Mutation_p.D83G	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	83					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AAAGAAGATGATGACCGGGTT	0.522			A		serous ovarian								9	80					0	0	0	0	G	30308111	A	G	30308111	3	3	427	1	0	0	0	0	1	0	0	0	2949	333	12	5	262	5	CCNE1	19	30308111	Missense_Mutation	SNP	A	TCGA-HD-A6HZ-01A-12D-A31L-08	6763726	30308111	28820872	96	84162											
ZNF536	9745	broad.mit.edu	37	chr19	31025841	31025841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcggccatgaaggactGcccgtactgtgggaaaactt	9	8	14	10	2	0	1	0	1	0	0	1	3	0	3	2	4	3	2	2	4	4	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:31025841G>A	ENST00000355537.3	+	3	2405	c.2258G>A	c.(2257-2259)tGc>tAc	p.C753Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	753					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGAAGGACTGCCCGTACTGT	0.597													31	143					0	0	0	0	A	31025841	G	A	31025841	3	1	427	1	0	0	0	0	1	0	0	0	18069	1319	46	4	2264	4	ZNF536	19	31025841	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	717730	31025841	28103142	97	84163											
SPIB	6689	broad.mit.edu	37	chr19	50926135	50926135	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaccccctatgaagcCttcgacccggcagcagccgc	8	4	9	20	3	0	1	0	1	0	0	1	2	0	1	7	1	4	2	7	1	2	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:50926135C>A	ENST00000595883.1	+	4	205	c.180C>A	c.(178-180)gcC>gcA	p.A60A	SPIB_ENST00000270632.7_Silent_p.A60A|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Silent_p.A60A	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	60	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTATGAAGCCTTCGACCCGG	0.657													15	141					1.15088e-07	1.25273e-07	1	0	A	50926135	C	A	50926135	2	1	427	1	0	0	0	0	0	0	0	1	15140	668	24	4		4	SPIB	19	50926135	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	19900294	50926135	8202848	98	84164											
SIGLEC10	89790	broad.mit.edu	37	chr19	51918188	51918188	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagggagctgttggccCagggcccggctgagctgggg	4	6	20	11	1	1	1	1	1	0	0	1	2	1	2	2	7	2	5	2	7	0	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:51918188C>T	ENST00000356298.5	-	8	1621	c.1505G>A	c.(1504-1506)tGg>tAg	p.W502*	SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.W444*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.W502*|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Intron	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	502					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			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)		GCTGTTGGCCCAGGGCCCGGC	0.692													22	76					0	0	0	0	T	51918188	C	T	51918188	4	4	427	1	0	0	0	0	0	1	0	0	14394	595	21	4	604	4	SIGLEC10	19	51918188	Nonsense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	992053	51918188	7210795	99	84165											
PAX1	5075	broad.mit.edu	37	chr20	21689276	21689276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccgcacggccttccccGccacccccgcagtgaatggg	7	5	11	18	4	0	2	0	2	0	0	1	2	1	2	7	2	1	2	7	2	2	1			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:21689276G>A	ENST00000398485.2	+	3	1051	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A309T	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	333					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GGCCTTCCCCGCCACCCCCGC	0.612													13	75					0	0	0	0	A	21689276	G	A	21689276	3	1	427	1	0	0	0	0	1	0	0	0	11549	1087	38	1	1007	1	PAX1	20	21689276	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		21689276	41336244	100	84166											
CD93	22918	broad.mit.edu	37	chr20	23065128	23065128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgttgttttgtgtggccaCggaggagtccccacctgcag	6	11	13	11	2	0	0	0	0	0	0	2	2	1	2	4	3	1	3	4	3	0	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:23065128C>T	ENST00000246006.4	-	1	1849	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	568					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTGTGGCCACGGAGGAGTCC	0.637													6	118					0	0	0	0	T	23065128	C	T	23065128	3	4	427	1	0	0	0	0	1	0	0	0	3076	536	19	1	264	1	CD93	20	23065128	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	1375852	23065128	39960392	101	84167											
SGK2	10110	broad.mit.edu	37	chr20	42199306	42199306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctggagccccgggccaGgttctacgctgctgaggtgg	4	9	16	12	2	1	1	0	1	1	0	2	2	2	2	4	5	3	4	4	5	1	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:42199306G>A	ENST00000373100.1	+	8	870	c.410G>A	c.(409-411)aGg>aAg	p.R137K	SGK2_ENST00000373092.3_Missense_Mutation_p.R137K|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000423407.3_Missense_Mutation_p.R137K|SGK2_ENST00000426287.1_Missense_Mutation_p.R163K|SGK2_ENST00000373077.1_Missense_Mutation_p.R136K|SGK2_ENST00000341458.4_Missense_Mutation_p.R197K			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	197	Protein kinase.			Missing (in Ref. 4; CAI42315).	intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCCGGGCCAGGTTCTACGCT	0.632													8	92					0	0	0	0	A	42199306	G	A	42199306	3	1	427	1	0	0	0	0	1	0	0	0	14296	1000	35	4	612	4	SGK2	20	42199306	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	19134178	42199306	20826214	102	84168											
USP16	10600	broad.mit.edu	37	chr21	30403060	30403060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaacagaagaaaagcCttcagtttggctgtgtctta	15	10	10	6	0	2	4	1	0	1	4	2	4	2	4	1	1	2	2	1	1	6	3			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr21:30403060C>T	ENST00000334352.4	+	4	437	c.206C>T	c.(205-207)cCt>cTt	p.P69L	USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.P69L|USP16_ENST00000399976.2_Missense_Mutation_p.P69L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	69					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GAAGAAAAGCCTTCAGTTTGG	0.348													11	74					0	0	0	0	T	30403060	C	T	30403060	3	4	427	1	0	0	0	0	1	0	0	0	17143	681	24	4	212	4	USP16	21	30403060	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08		30403060	17726835	103	84169											
HMGXB4	10042	broad.mit.edu	37	chr22	35683435	35683435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagctcagaaggttccatGaaagtcaaaggtagtgacca	14	8	10	9	0	2	3	2	2	0	1	4	3	4	3	3	2	1	3	3	2	4	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:35683435G>C	ENST00000216106.5	+	8	1586	c.1458G>C	c.(1456-1458)atG>atC	p.M486I	HMGXB4_ENST00000444518.2_Missense_Mutation_p.M377I	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	486					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTCCATGAAAGTCAAAG	0.433													7	22					0	0	0	0	C	35683435	G	C	35683435	3	2	427	1	0	0	0	0	1	0	0	0	7289	1290	45	2	1484	2	HMGXB4	22	35683435	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		35683435	15621131	104	84170											
EP300	2033	broad.mit.edu	37	chr22	41513816	41513816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggattgagaggcccccaGcctcttaaggtaagtacagt	12	8	11	10	0	1	1	0	1	1	1	1	3	1	2	3	3	2	2	3	3	3	4			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:41513816G>T	ENST00000263253.7	+	2	1939	c.720G>T	c.(718-720)caG>caT	p.Q240H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	240					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGGCCCCCAGCCTCTTAAGG	0.502			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				9	27					1.76689e-08	1.95791e-08	1	0	T	41513816	G	T	41513816	3	4	427	1	0	0	0	0	1	0	0	0	5186	962	34	4	726	4	EP300	22	41513816	Missense_Mutation	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08	5830381	41513816	9790750	105	84171											
CELSR1	9620	broad.mit.edu	37	chr22	46793727	46793728	+	Frame_Shift_Ins	INS	-	-	C																															gtggcgacgttggtgggcgtINScccccccatcctcactccct																										TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:46793727_46793728insC	ENST00000262738.3	-	12	5543_5544	c.5544_5545insG	c.(5542-5547)ggcgccfs	p.A1849fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1849	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGGTGGGCGTCCCCCCCATCC	0.599													9	21	---	---	---	---					C	46793728	-	C	46793727	7	5	427	1	0	1	1	0	0	0	0	0	3250	1667	58	0	3595	0	CELSR1	22	46793727	Frame_Shift_Ins	INS	-	TCGA-HD-A6HZ-01A-12D-A31L-08	5279911	46793727	4510839	106	84172											
DGKK	139189	broad.mit.edu	37	chrX	50213406	50213406	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggttctggggccggttctGaggccggctctgtggctggt	2	11	18	10	2	3	1	0	1	3	0	3	1	3	1	2	8	0	4	2	8	0	2			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:50213406G>C	ENST00000376025.2	-	0	331							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggccggttctgaggccggctc	0.647													54	215					0	0	0	0	C	50213406	G	C	50213406	1	2	427	0	1	0	0	0	0	0	0	0	4509	1294	45	2		2	DGKK	23	50213406	RNA	SNP	G	TCGA-HD-A6HZ-01A-12D-A31L-08		50213406	105057154	107	84173											
ARHGEF6	9459	broad.mit.edu	37	chrX	135862940	135862940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaactaccccatttttcagCgaggactttaaaaactcctc	13	11	5	12	1	1	1	1	0	0	1	3	3	2	2	3	1	4	0	3	1	5	5			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:135862940C>T	ENST00000250617.6	-	1	1307	c.102G>A	c.(100-102)tcG>tcA	p.S34S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	34	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CATTTTTCAGCGAGGACTTTA	0.428													48	77					0	0	0	0	T	135862940	C	T	135862940	2	4	427	1	0	0	0	0	0	0	0	1	912	755	27	1		1	ARHGEF6	23	135862940	Silent	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	85649534	135862940	19407620	108	84174											
ATP2B3	492	broad.mit.edu	37	chrX	152813367	152813367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtggggagatggaggagCgggagaagaagaaagccaac	15	2	20	4	1	0	4	0	0	0	4	0	8	0	6	1	6	3	0	1	6	4	0			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:152813367C>T	ENST00000370186.1	+	7	1317	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	ATP2B3_ENST00000349466.2_Missense_Mutation_p.R345W|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R345W|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R345W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R331W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R331W			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	345					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGAGGAGCGGGAGAAGAA	0.582													23	49					0	0	0	0	T	152813367	C	T	152813367	3	4	427	1	0	0	0	0	1	0	0	0	1145	759	27	1	1059	1	ATP2B3	23	152813367	Missense_Mutation	SNP	C	TCGA-HD-A6HZ-01A-12D-A31L-08	16950427	152813367	2457193	109	84175											
CNKSR1	10256	broad.mit.edu	37	chr1	26510269	26510269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaactgctgcgggagccagCcggactcagcttagtgctga	8	7	15	11	2	1	1	1	1	0	0	1	4	1	4	2	3	7	3	2	3	2	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26510269C>T	ENST00000531191.1	+	8	1036	c.29C>T	c.(28-30)gCc>gTc	p.A10V	CNKSR1_ENST00000374253.5_Missense_Mutation_p.A275V|CNKSR1_ENST00000361530.6_Missense_Mutation_p.A268V			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	275	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGAGCCAGCCGGACTCAGC	0.632													4	98					0	0	0	0	T	26510269	C	T	26510269	3	4	428	1	0	0	0	0	1	0	0	0	3636	739	26	4	837	4	CNKSR1	1	26510269	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08		26510269	222740352	1	84176											
RPS6KA1	6195	broad.mit.edu	37	chr1	26887287	26887288	+	Frame_Shift_Ins	INS	-	-	CT																															acaattggtgtgggctcctaINSctctgagtgcaagcgctgtg																										TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26887287_26887288insCT	ENST00000374168.2	+	15	1440_1441	c.1286_1287insCT	c.(1285-1287)ttcfs	p.F429fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.F413fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.F337fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.F337fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.F418fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.F438fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	429	Protein kinase 2.				axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGGGCTCCTACTCTGAGTGCA	0.559													19	81	---	---	---	---					CT	26887288	-	CT	26887287	7	5	428	1	0	1	1	0	0	0	0	0	13735	391	14	0	1483	0	RPS6KA1	1	26887287	Frame_Shift_Ins	INS	-	TCGA-HD-A6I0-01A-11D-A31L-08	377018	26887287	222363334	2	84177											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898043	26898043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgccaaacagctgcGggctgagaatgggctcctca	8	10	13	10	1	1	1	1	1	0	1	2	2	2	1	2	3	4	4	2	3	2	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26898043G>A	ENST00000374168.2	+	18	1848	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R549Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R473Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R473Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R554Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R574Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	565	Protein kinase 2.				axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAACAGCTGCGGGCTGAGAAT	0.577													11	29					0	0	0	0	A	26898043	G	A	26898043	3	1	428	1	0	0	0	0	1	0	0	0	13735	1116	39	1	1903	1	RPS6KA1	1	26898043	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	10756	26898043	222352578	3	84178											
AHDC1	27245	broad.mit.edu	37	chr1	27878340	27878340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaccggtgtggggcagCgggcctgtgagacaggacgg	6	5	19	11	4	0	1	0	1	0	1	1	4	1	2	3	6	1	1	3	6	0	0	rs144777795		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:27878340C>T	ENST00000374011.2	-	6	1255	c.287G>A	c.(286-288)cGc>cAc	p.R96H	AHDC1_ENST00000247087.5_Missense_Mutation_p.R96H|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	96	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGTGGGGCAGCGGGCCTGTGA	0.711													34	72					0	0	0	0	T	27878340	C	T	27878340	3	4	428	1	0	0	0	0	1	0	0	0	412	768	27	1	4528	1	AHDC1	1	27878340	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	980297	27878340	221372281	4	84179											
GRIK3	2899	broad.mit.edu	37	chr1	37282846	37282846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgccaccaatgatgcGtgtggacagggctttgggca	9	8	14	10	1	0	2	0	1	0	1	0	3	0	3	3	3	2	2	3	3	1	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:37282846G>A	ENST00000373091.3	-	13	1922	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R636C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	636					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCAATGATGCGTGTGGACAGG	0.562													18	57					0	0	0	0	A	37282846	G	A	37282846	3	1	428	1	0	0	0	0	1	0	0	0	6825	1145	40	1	869	1	GRIK3	1	37282846	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	9404506	37282846	211967775	5	84180											
DEPDC1	55635	broad.mit.edu	37	chr1	68943612	68943612	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatctgcttacagtatgagTaagttggcaaaggagcaaat	15	11	10	5	0	1	1	0	1	1	0	1	2	1	2	0	2	3	6	0	2	6	5			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:68943612T>G	ENST00000456315.2	-	11	2270	c.2156A>C	c.(2155-2157)tAc>tCc	p.Y719S	DEPDC1_ENST00000370966.5_Missense_Mutation_p.Y435S	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	719					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACAGTATGAGTAAGTTGGCAA	0.333													41	97					0	0	0	0	G	68943612	T	G	68943612	3	3	428	1	0	0	0	0	1	0	0	0	4476	1638	57	5	287	5	DEPDC1	1	68943612	Missense_Mutation	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08	31660766	68943612	180307009	6	84181											
SYPL2	284612	broad.mit.edu	37	chr1	110019530	110019530	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttccttcttctatacCatggctgccctagttatcta	7	18	4	12	0	4	0	0	0	4	0	5	0	5	0	3	1	2	2	3	1	5	9			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:110019530C>T	ENST00000369872.3	+	4	603	c.387C>T	c.(385-387)acC>acT	p.T129T	SYPL2_ENST00000401021.3_Silent_p.T129T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	129	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCTTCTATACCATGGCTGCCC	0.547													13	52					0	0	0	0	T	110019530	C	T	110019530	2	4	428	1	0	0	0	0	0	0	0	1	15554	581	21	4		4	SYPL2	1	110019530	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	41075918	110019530	139231091	7	84182											
KCNA10	3744	broad.mit.edu	37	chr1	111060949	111060949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcaatgggaacattggctGggcgccgaattttcccacca	10	10	10	11	2	1	0	1	0	0	0	2	2	2	1	3	3	1	1	3	3	4	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:111060949G>T	ENST00000369771.2	-	1	848	c.461C>A	c.(460-462)cCa>cAa	p.P154Q		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	154						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AACATTGGCTGGGCGCCGAAT	0.448													20	60					1.56452e-12	1.73492e-12	1	0	T	111060949	G	T	111060949	3	4	428	1	0	0	0	0	1	0	0	0	8055	1348	47	4	1078	4	KCNA10	1	111060949	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	1041419	111060949	138189672	8	84183											
TTF2	8458	broad.mit.edu	37	chr1	117631445	117631445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctcaacacctttgcttcGaatagcctgggctcgaatca	10	10	7	14	2	2	0	2	0	0	0	4	2	2	0	3	1	3	2	3	1	4	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:117631445G>A	ENST00000369466.3	+	13	2227	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	728	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCTTTGCTTCGAATAGCCTGG	0.468													23	72					0	0	0	0	A	117631445	G	A	117631445	3	1	428	1	0	0	0	0	1	0	0	0	16815	1058	37	1	2233	1	TTF2	1	117631445	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	6570496	117631445	131619176	9	84184											
VPS45	11311	broad.mit.edu	37	chr1	150117082	150117082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttctgtgctggttgttaGaactcatctccaggtagccc	6	13	12	10	0	3	1	1	0	2	1	4	1	3	1	2	3	3	5	2	3	3	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:150117082G>A	ENST00000369128.5	+	14	1840	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000369130.3_3'UTR			Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	0					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGTTGTTAGAACTCATCTC	0.507													3	12					0	0	0	0	A	150117082	G	A	150117082	3	1	428	1	0	0	0	0	1	0	0	0	17307	957	33	2		2	VPS45	1	150117082	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	32485637	150117082	99133539	10	84185											
GBA	2629	broad.mit.edu	37	chr1	155205614	155205614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttccagtcggtccagcCgaccacatggtacaggaggt	10	7	13	11	2	0	0	0	0	0	0	3	2	2	1	4	5	2	2	4	5	2	2	rs121908311		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:155205614C>T	ENST00000428024.2	-	8	1487	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	GBA_ENST00000536770.1_Missense_Mutation_p.G303S|GBA_ENST00000327247.5_Missense_Mutation_p.G416S|GBA_ENST00000427500.2_Missense_Mutation_p.G367S|GBA_ENST00000368373.3_Missense_Mutation_p.G416S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	416					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCGGTCCAGCCGACCACATGG	0.547									Gaucher disease type I				11	24					0	0	0	0	T	155205614	C	T	155205614	3	4	428	1	0	0	0	0	1	0	0	0	6315	652	23	1	376	1	GBA	1	155205614	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	5088532	155205614	94045007	11	84186											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179820453	179820453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgattgtggtctcctgcGcctgagaatttactgatgga	8	14	11	8	1	1	3	0	3	1	1	2	5	1	4	2	2	2	0	2	2	3	4	rs145359130		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:179820453G>A	ENST00000367612.3	-	4	467	c.80C>T	c.(79-81)gCg>gTg	p.A27V		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	27						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGTCTCCTGCGCCTGAGAATT	0.373													12	28					0	0	0	0	A	179820453	G	A	179820453	3	1	428	1	0	0	0	0	1	0	0	0	16468	1087	38	1	1344	1	TOR1AIP2	1	179820453	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	24614839	179820453	69430168	12	84187											
FOSL2	2355	broad.mit.edu	37	chr2	28634913	28634922	+	Frame_Shift_Del	DEL	TAGCCCCGAG	TAGCCCCGAG	-																															cacggcccagtgtgcaagatTagccccgaggagcgccgatc																								rs146012402	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:28634913_28634922delTAGCCCCGAG	ENST00000264716.4	+	4	1442_1451	c.579_588delTAGCCCCGAG	c.(577-588)atfs	p.ISPE193fs	FOSL2_ENST00000379619.1_Frame_Shift_Del_p.ISPE185fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.ISPE154fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	193					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGTGCAAGATTAGCCCCGAGGAGCGCCGAT	0.629													28	70	---	---	---	---					-	28634922	TAGCCCCGAG	-	28634913	7	5	428	1	0	1	0	1	0	0	0	0	6033	1742	61	0	593	0	FOSL2	2	28634913	Frame_Shift_Del	DEL	TAGCCCCGAG	TCGA-HD-A6I0-01A-11D-A31L-08		28634913	214564460	13	84188											
HEATR5B	54497	broad.mit.edu	37	chr2	37234241	37234241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttctggcaaagatttagCactacccactgctcctgatg	11	12	7	11	0	1	2	0	1	1	1	2	2	2	2	2	1	3	3	2	1	4	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:37234241C>T	ENST00000233099.5	-	29	4824	c.4729G>A	c.(4729-4731)Gct>Act	p.A1577T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1577T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1577							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGATTTAGCACTACCCACT	0.353													34	61					0	0	0	0	T	37234241	C	T	37234241	3	4	428	1	0	0	0	0	1	0	0	0	7082	710	25	4	1518	4	HEATR5B	2	37234241	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	8599328	37234241	205965132	14	84189											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105892032	105892032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacctcttcacttttctgCaggacccaatcagcataggc	11	10	6	14	0	4	0	2	0	2	0	4	1	4	1	2	2	3	2	2	2	3	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:105892032C>T	ENST00000393359.2	-	8	2076	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	TGFBRAP1_ENST00000258449.1_Silent_p.L550L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	550					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CACTTTTCTGCAGGACCCAAT	0.463													4	70					0	0	0	0	T	105892032	C	T	105892032	2	4	428	1	0	0	0	0	0	0	0	1	15918	697	25	4		4	TGFBRAP1	2	105892032	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	68657791	105892032	137307341	15	84190											
NBEAL1	65065	broad.mit.edu	37	chr2	204034488	204034488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttagaaacaaaatatatAgccgactgttgtcacttcat	15	12	7	7	1	2	1	2	0	0	1	2	2	2	1	1	1	2	2	1	1	7	6			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:204034488A>G	ENST00000449802.1	+	38	6262	c.5929A>G	c.(5929-5931)Agc>Ggc	p.S1977G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1977							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAAATATATAGCCGACTGTT	0.333													3	55					0	0	0	0	G	204034488	A	G	204034488	3	3	428	1	0	0	0	0	1	0	0	0	10258	420	15	5	6075	5	NBEAL1	2	204034488	Missense_Mutation	SNP	A	TCGA-HD-A6I0-01A-11D-A31L-08	98142456	204034488	39164885	16	84191											
GIGYF2	26058	broad.mit.edu	37	chr2	233710572	233710572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacagatgcttcatgccCttaatacggcaaataacttg	13	11	8	9	1	1	2	1	1	0	1	1	2	1	2	1	1	5	2	1	1	5	5			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:233710572C>G	ENST00000373566.3	+	27	3699	c.3502C>G	c.(3502-3504)Ctt>Gtt	p.L1168V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.L1168V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L1146V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L1167V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L1146V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L1140V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1146					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTTCATGCCCTTAATACGGC	0.448													17	36					0	0	0	0	G	233710572	C	G	233710572	3	3	428	1	0	0	0	0	1	0	0	0	6429	681	24	4	3600	4	GIGYF2	2	233710572	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	29676084	233710572	9488801	17	84192											
EPHB1	2047	broad.mit.edu	37	chr3	134825395	134825395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccatctgcacctgtcGgaccggttattaccgagcgg	6	10	11	14	4	2	0	0	0	2	0	4	2	2	1	4	3	3	2	4	3	2	2	rs143323362	by1000genomes	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr3:134825395G>T	ENST00000398015.3	+	4	1281	c.911G>T	c.(910-912)cGg>cTg	p.R304L	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	304	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R304Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCACCTGTCGGACCGGTTAT	0.592													10	27					0.000442599	0.000450647	1	0	T	134825395	G	T	134825395	3	4	428	1	0	0	0	0	1	0	0	0	5212	1116	39	3	925	3	EPHB1	3	134825395	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		134825395	63197035	18	84193											
SELT	51714	broad.mit.edu	37	chr3	150321156	150321156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcatttaagatgaggCttctgctgcttctcctagtg	6	15	10	10	0	3	2	1	1	2	1	4	2	3	2	1	2	2	4	1	2	2	5			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr3:150321156C>T	ENST00000471696.1	+	1	82	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	SELT_ENST00000485923.1_5'UTR|SELT_ENST00000477889.1_5'UTR|SELT_ENST00000480740.1_Intron	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		3					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TAAGATGAGGCTTCTGCTGCT	0.632													10	22					0	0	0	0	T	150321156	C	T	150321156	3	4	428	1	0	0	0	0	1	0	0	0	14109	797	28	4	9	4	SELT	3	150321156	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	15495761	150321156	47701274	19	84194											
KCTD8	386617	broad.mit.edu	37	chr4	44177049	44177049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattgtacaggtgctttttTagaggggcgatccaatgtta	9	14	11	7	1	0	1	0	0	0	1	1	2	1	1	2	3	2	3	2	3	4	6			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:44177049T>C	ENST00000360029.3	-	2	1463	c.1180A>G	c.(1180-1182)Aaa>Gaa	p.K394E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	394						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGTGCTTTTTTAGAGGGGCGA	0.507										HNSCC(17;0.042)			54	107					0	0	0	0	C	44177049	T	C	44177049	3	2	428	1	0	0	0	0	1	0	0	0	8168	1763	61	5	245	5	KCTD8	4	44177049	Missense_Mutation	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08		44177049	146977227	20	84195											
MUC7	4589	broad.mit.edu	37	chr4	71346803	71346803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacccaaattccatctgtGactttcccatcagcttccac	11	11	3	16	0	2	1	1	1	1	0	5	1	5	1	4	0	2	1	4	0	2	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:71346803G>A	ENST00000413702.1	+	4	630	c.342G>A	c.(340-342)gtG>gtA	p.V114V	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.V114V|MUC7_ENST00000304887.5_Silent_p.V114V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	114	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCCATCTGTGACTTTCCCAT	0.433													34	49					0	0	0	0	A	71346803	G	A	71346803	2	1	428	1	0	0	0	0	0	0	0	1	10051	1277	45	2		2	MUC7	4	71346803	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	27169754	71346803	119807473	21	84196											
ANKRD17	26057	broad.mit.edu	37	chr4	73990667	73990667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagccaaggagagtggtGtgtccttggttctttcagac	10	11	12	8	0	2	2	1	0	1	2	3	3	3	2	2	3	2	1	2	3	3	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:73990667G>T	ENST00000358602.4	-	18	3571	c.3455C>A	c.(3454-3456)aCa>aAa	p.T1152K	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T901K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1039K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1152					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGAGTGGTGTGTCCTTGGT	0.458													29	61					7.11191e-15	8.04579e-15	1	0	T	73990667	G	T	73990667	3	4	428	1	0	0	0	0	1	0	0	0	646	1377	48	4	4424	4	ANKRD17	4	73990667	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	2643864	73990667	117163609	22	84197											
DDX60L	91351	broad.mit.edu	37	chr4	169342916	169342916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattcaaacactacctttgCgggtgcaacgtacacaacca	13	9	6	13	2	2	0	2	0	0	0	2	0	2	0	2	1	7	2	2	1	5	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:169342916C>T	ENST00000511577.1	-	17	2636	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	DDX60L_ENST00000260184.7_Missense_Mutation_p.A797T|DDX60L_ENST00000505890.1_Missense_Mutation_p.A797T			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	797	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACTACCTTTGCGGGTGCAACG	0.458													4	161					0	0	0	0	T	169342916	C	T	169342916	3	4	428	1	0	0	0	0	1	0	0	0	4411	768	27	1	2819	1	DDX60L	4	169342916	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	95352249	169342916	21811360	23	84198											
FAT1	2195	broad.mit.edu	37	chr4	187629341	187629342	+	Frame_Shift_Ins	INS	-	-	TA																															ggacttcgacttcccggcggINStacggcaagccccagtctga																										TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:187629341_187629342insTA	ENST00000441802.2	-	2	1849_1850	c.1640_1641insTA	c.(1639-1641)tcgfs	p.S547fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	547	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCCCGGCGGTACGGCAAGCC	0.465										HNSCC(5;0.00058)			16	41	---	---	---	---					TA	187629342	-	TA	187629341	7	5	428	1	0	1	1	0	0	0	0	0	5734	1256	44	0	12229	0	FAT1	4	187629341	Frame_Shift_Ins	INS	-	TCGA-HD-A6I0-01A-11D-A31L-08	18286425	187629341	3524935	24	84199											
PCDHA10	56139	broad.mit.edu	37	chr5	140236812	140236812	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctgacgcctcacgttccGttcaagctggtgtccaccta	6	12	8	15	3	3	1	2	1	1	0	6	1	5	1	4	1	1	3	4	1	2	3	rs148283153		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr5:140236812G>A	ENST00000307360.5	+	1	1179	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTTCCGTTCAAGCTGG	0.567													43	140					0	0	0	0	A	140236812	G	A	140236812	2	1	428	1	0	0	0	0	0	0	0	1	11591	1132	40	1		1	PCDHA10	5	140236812	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		140236812	40678448	25	84200											
SLC26A8	116369	broad.mit.edu	37	chr6	35919265	35919265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgttggcgttttgaaaGgcattgcatatctgtggggg	10	13	14	4	1	1	1	0	1	1	0	1	1	1	1	0	4	1	4	0	4	4	5			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:35919265G>A	ENST00000490799.1	-	18	2597	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A	SLC26A8_ENST00000355574.2_Silent_p.A748A|SLC26A8_ENST00000394602.2_Silent_p.A643A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	748	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CGTTTTGAAAGGCATTGCATA	0.448													12	52					0	0	0	0	A	35919265	G	A	35919265	2	1	428	1	0	0	0	0	0	0	0	1	14611	987	35	4		4	SLC26A8	6	35919265	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		35919265	135195802	26	84201											
DST	667	broad.mit.edu	37	chr6	56482918	56482918	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtaatggggtttgtctCatcaaaagttatctgtaact	10	17	8	6	0	4	0	2	0	3	0	5	0	4	0	0	2	1	4	0	2	5	5			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:56482918C>A	ENST00000370765.6	-	23	6021	c.5914G>T	c.(5914-5916)Gag>Tag	p.E1972*	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1371					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGTTTGTCTCATCAAAAGTT	0.438													24	52					1.10513e-12	1.23775e-12	1	0	A	56482918	C	A	56482918	4	1	428	1	0	0	0	0	0	1	0	0	4819	835	29	2	14489	2	DST	6	56482918	Nonsense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	20563653	56482918	114632149	27	84202											
MAP3K7	6885	broad.mit.edu	37	chr6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-																															tcatctcaccggccgaagacGaggaggaggaggaggcggca																										TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcg>tc	p.SS13del	MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	13	Poly-Ser.				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			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)		GGCCGAAGACGAGGAGGAGGAGG	0.655													7	62	---	---	---	---					-	91296570	GAG	-	91296568	7	5	428	1	0	1	0	1	0	0	0	0	9324	1059	37	0	1853	0	MAP3K7	6	91296568	In_Frame_Del	DEL	GAG	TCGA-HD-A6I0-01A-11D-A31L-08	34813650	91296568	79818499	28	84203											
GRIK2	2898	broad.mit.edu	37	chr6	102134198	102134198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggcacctccgaaaccCgattcaggtttgctggatgg	8	10	12	11	2	1	0	1	0	0	0	2	3	2	1	3	4	3	4	3	4	1	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:102134198C>T	ENST00000369138.1	+	6	1411	c.921C>T	c.(919-921)ccC>ccT	p.P307P	GRIK2_ENST00000318991.6_Silent_p.P307P|GRIK2_ENST00000358361.3_Silent_p.P307P|GRIK2_ENST00000421544.1_Silent_p.P307P|GRIK2_ENST00000413795.1_Silent_p.P307P|GRIK2_ENST00000369137.3_Silent_p.P307P|GRIK2_ENST00000369134.4_Silent_p.P258P	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	307					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTCCGAAACCCGATTCAGGTT	0.393													15	54					0	0	0	0	T	102134198	C	T	102134198	2	4	428	1	0	0	0	0	0	0	0	1	6824	639	23	1		1	GRIK2	6	102134198	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	10837630	102134198	68980869	29	84204											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26236221	26236221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacttcctgcatttcttgtCtagacaaagcctttcttact	9	16	5	11	0	3	1	0	0	3	1	4	2	4	1	2	0	4	1	2	0	4	6			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:26236221C>G	ENST00000354667.4	-	6	737	c.569G>C	c.(568-570)aGa>aCa	p.R190T	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R178T	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	190	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CATTTCTTGTCTAGACAAAGC	0.333			T	ETV1	prostate								39	96					0	0	0	0	G	26236221	C	G	26236221	3	3	428	1	0	0	0	0	1	0	0	0	7309	913	32	2	516	2	HNRNPA2B1	7	26236221	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08		26236221	132902442	30	84205											
COL1A2	1278	broad.mit.edu	37	chr7	94055131	94055131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtcctcatggccccGtgggtcctgctggcaaacat	6	9	11	15	1	1	0	1	0	0	0	3	0	3	0	5	4	2	2	5	4	1	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:94055131G>A	ENST00000297268.6	+	44	3376	c.2905G>A	c.(2905-2907)Gtg>Atg	p.V969M		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	969					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.V969M(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)	TCATGGCCCCGTGGGTCCTGC	0.537										HNSCC(75;0.22)			6	17					0	0	0	0	A	94055131	G	A	94055131	3	1	428	1	0	0	0	0	1	0	0	0	3708	1145	40	1	3079	1	COL1A2	7	94055131	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	67818910	94055131	65083532	31	84206											
PLXNA4	91584	broad.mit.edu	37	chr7	131817922	131817922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcgttcatgtcttggtcGctgatggctggcatcttccc	4	15	11	11	2	3	1	1	1	2	0	5	1	4	1	1	3	1	4	1	3	1	4	rs114567124	by1000genomes	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:131817922G>A	ENST00000359827.3	-	31	6437	c.5475C>T	c.(5473-5475)agC>agT	p.S1825S	PLXNA4_ENST00000321063.4_Silent_p.S1825S			Q9HCM2	PLXA4_HUMAN	plexin A4	1825						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTTGGTCGCTGATGGCTG	0.507													31	67					0	0	0	0	A	131817922	G	A	131817922	2	1	428	1	0	0	0	0	0	0	0	1	12194	1078	38	1		1	PLXNA4	7	131817922	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	37762791	131817922	27320741	32	84207											
MGAM	8972	broad.mit.edu	37	chr7	141754631	141754631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccatccagcacccctgaGggtcaactctatgatgtgct	9	10	9	13	0	2	2	1	2	1	0	3	2	3	2	4	1	4	2	4	1	2	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:141754631G>A	ENST00000475668.2	+	27	3291	c.3237G>A	c.(3235-3237)gaG>gaA	p.E1079E	MGAM_ENST00000549489.2_Silent_p.E1079E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1079	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCACCCCTGAGGGTCAACTCT	0.448													40	95					0	0	0	0	A	141754631	G	A	141754631	2	1	428	1	0	0	0	0	0	0	0	1	9610	991	35	4		4	MGAM	7	141754631	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	9936709	141754631	17384032	33	84208											
SSPO	23145	broad.mit.edu	37	chr7	149484847	149484847	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcggaggtccccccgcaGcagcactatgagtggtgcct	7	6	13	15	3	0	1	0	1	0	0	1	2	1	2	4	3	3	3	4	3	1	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:149484847G>C	ENST00000378016.2	+	0	3669							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCCCCGCAGCAGCACTATG	0.657													4	4					0	0	0	0	C	149484847	G	C	149484847	1	2	428	0	1	0	0	0	0	0	0	0	15279	962	34	4		4	SSPO	7	149484847	RNA	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	7730216	149484847	9653816	34	84209											
ATAD2	29028	broad.mit.edu	37	chr8	124359414	124359414	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatcttgtcaacagtgttTtgcaggagtggtttcacaac	12	13	9	7	0	3	0	2	0	1	0	3	1	3	1	0	2	3	3	0	2	4	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr8:124359414T>C	ENST00000287394.5	-	16	2237	c.2130A>G	c.(2128-2130)caA>caG	p.Q710Q	ATAD2_ENST00000521903.1_Silent_p.Q28Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAACAGTGTTTTGCAGGAGTG	0.433													27	48					0	0	0	0	C	124359414	T	C	124359414	2	2	428	1	0	0	0	0	0	0	0	1	1075	1838	64	5		5	ATAD2	8	124359414	Silent	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08		124359414	22004608	35	84210											
KCNK9	51305	broad.mit.edu	37	chr8	140630787	140630787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgggccggctgggcCgcggctcctcagggatgtga	4	8	17	12	3	1	1	1	1	0	0	2	2	2	2	4	5	1	3	4	5	1	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr8:140630787C>T	ENST00000520439.1	-	2	902	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	KCNK9_ENST00000303015.1_Missense_Mutation_p.R280Q			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	280						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCGGCTGGGCCGCGGCTCCTC	0.647													23	72					0	0	0	0	T	140630787	C	T	140630787	3	4	428	1	0	0	0	0	1	0	0	0	8125	652	23	1	289	1	KCNK9	8	140630787	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	16271373	140630787	5733235	36	84211											
IFNA14	3448	broad.mit.edu	37	chr9	21239756	21239756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattcctcctggggaaatTcaaagtcatgtctgtccttc	10	13	7	11	0	3	0	2	0	1	0	7	1	6	1	3	2	0	0	3	2	3	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:21239756T>C	ENST00000380222.2	-	1	222	c.179A>G	c.(178-180)gAa>gGa	p.E60G		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGGGGAAATTCAAAGTCATG	0.473													4	168					0	0	0	0	C	21239756	T	C	21239756	3	2	428	1	0	0	0	0	1	0	0	0	7587	1783	62	5	394	5	IFNA14	9	21239756	Missense_Mutation	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08		21239756	119973675	37	84212											
PRUNE2	158471	broad.mit.edu	37	chr9	79319910	79319910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaaagcactatctctGctgctctgcatcccagagat	10	10	9	12	0	2	2	0	0	2	2	4	3	3	2	1	0	5	5	1	0	2	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:79319910G>A	ENST00000428286.1	-	8	7403	c.6203C>T	c.(6202-6204)gCa>gTa	p.A2068V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2427V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2427					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTATCTCTGCTGCTCTGCA	0.502											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	27					0	0	0	0	A	79319910	G	A	79319910	3	1	428	1	0	0	0	0	1	0	0	0	12720	1319	46	4	2034	4	PRUNE2	9	79319910	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	58080154	79319910	61893521	38	84213											
CCBL1	883	broad.mit.edu	37	chr9	131596044	131596044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacagaagcggatatagTggtcaaagtgcttctgatgt	14	10	11	6	1	2	2	1	1	1	1	2	3	2	3	0	2	3	1	0	2	6	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:131596044T>C	ENST00000436267.2	-	14	1615	c.1466A>G	c.(1465-1467)cAc>cGc	p.H489R	CCBL1_ENST00000320665.6_Missense_Mutation_p.H345R|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.H395R			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	395					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GCGGATATAGTGGTCAAAGTG	0.562													29	51					0	0	0	0	C	131596044	T	C	131596044	3	2	428	1	0	0	0	0	1	0	0	0	2757	1696	59	5	92	5	CCBL1	9	131596044	Missense_Mutation	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08	52276134	131596044	9617387	39	84214											
LRRC8A	56262	broad.mit.edu	37	chr9	131670684	131670684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaacgagtggacgctggAcaagctccggcagcggctca	11	4	13	13	4	1	0	1	0	0	0	2	3	2	2	1	4	4	4	1	4	3	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:131670684A>T	ENST00000259324.5	+	3	1764	c.1241A>T	c.(1240-1242)gAc>gTc	p.D414V	LRRC8A_ENST00000372600.4_Missense_Mutation_p.D414V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.D414V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	414					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGGACGCTGGACAAGCTCCGG	0.592													21	100					0	0	0	0	T	131670684	A	T	131670684	3	4	428	1	0	0	0	0	1	0	0	0	9085	275	10	5	1243	5	LRRC8A	9	131670684	Missense_Mutation	SNP	A	TCGA-HD-A6I0-01A-11D-A31L-08	74640	131670684	9542747	40	84215											
NOTCH1	4851	broad.mit.edu	37	chr9	139412375	139412375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcacttgcccgcatgctCgcaggggttggcacctggcg	5	8	15	13	3	0	0	0	0	0	0	1	1	0	0	2	4	3	6	2	4	0	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:139412375C>T	ENST00000277541.6	-	8	1345	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	424	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E424K(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCGCATGCTCGCAGGGGTTG	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			26	63					0	0	0	0	T	139412375	C	T	139412375	3	4	428	1	0	0	0	0	1	0	0	0	10617	893	31	1	6505	1	NOTCH1	9	139412375	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	7741691	139412375	1801056	41	84216											
ITGB1	3688	broad.mit.edu	37	chr10	33211203	33211203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattgtatgcatcaatgatCaactgaattacattgctaga	15	13	6	7	0	2	3	2	2	0	1	2	3	2	3	0	0	4	3	0	0	6	5			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:33211203C>G	ENST00000396033.2	-	9	1245	c.1110G>C	c.(1108-1110)ttG>ttC	p.L370F	ITGB1_ENST00000374956.4_Missense_Mutation_p.L370F|ITGB1_ENST00000302278.3_Missense_Mutation_p.L370F|ITGB1_ENST00000423113.1_Missense_Mutation_p.L370F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	370	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CATCAATGATCAACTGAATTA	0.323													17	30					0	0	0	0	G	33211203	C	G	33211203	3	3	428	1	0	0	0	0	1	0	0	0	7943	825	29	2	1556	2	ITGB1	10	33211203	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08		33211203	102323544	42	84217											
JMJD1C	221037	broad.mit.edu	37	chr10	64966598	64966598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctcctgttgactttatCatcttttacatatttatcaa	9	22	2	8	0	4	1	2	1	2	0	5	1	4	1	1	0	1	1	1	0	5	10			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:64966598C>T	ENST00000399262.2	-	10	5049	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1429N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1392N|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1392N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1611					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGACTTTATCATCTTTTACA	0.333													11	23					0	0	0	0	T	64966598	C	T	64966598	3	4	428	1	0	0	0	0	1	0	0	0	8003	826	29	2	2859	2	JMJD1C	10	64966598	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	31755395	64966598	70568149	43	84218											
USP54	159195	broad.mit.edu	37	chr10	75286479	75286479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggatgctactgctgtgcGactttgggatatgacgccag	8	10	13	10	2	0	1	0	1	0	0	0	4	0	3	2	2	4	2	2	2	2	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:75286479G>A	ENST00000339859.4	-	15	2220	c.2120C>T	c.(2119-2121)tCg>tTg	p.S707L	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.S707L|USP54_ENST00000428547.1_Missense_Mutation_p.S557L|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	707					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTGCTGTGCGACTTTGGGAT	0.488													16	42					0	0	0	0	A	75286479	G	A	75286479	3	1	428	1	0	0	0	0	1	0	0	0	17181	1059	37	1	2970	1	USP54	10	75286479	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	10319881	75286479	60248268	44	84219											
SORBS1	10580	broad.mit.edu	37	chr10	97117484	97117484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttttataaatttgtctctCattctccaagctagtgagat	11	17	5	8	0	3	1	1	1	2	1	5	2	3	1	1	0	1	1	1	0	5	6			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:97117484C>T	ENST00000371247.2	-	23	2221	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	SORBS1_ENST00000371245.3_Missense_Mutation_p.E529K|SORBS1_ENST00000361941.3_Missense_Mutation_p.E678K|SORBS1_ENST00000347291.4_Missense_Mutation_p.E490K|SORBS1_ENST00000354106.3_Missense_Mutation_p.E648K|SORBS1_ENST00000306402.6_Missense_Mutation_p.E425K|SORBS1_ENST00000607232.1_Missense_Mutation_p.E445K|SORBS1_ENST00000353505.5_Missense_Mutation_p.E529K|SORBS1_ENST00000371239.1_Missense_Mutation_p.E455K|SORBS1_ENST00000371246.2_Missense_Mutation_p.E700K|SORBS1_ENST00000371249.2_Missense_Mutation_p.E516K|SORBS1_ENST00000371227.4_Missense_Mutation_p.E632K|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.E700K|SORBS1_ENST00000371241.1_Missense_Mutation_p.E384K|SORBS1_ENST00000393949.1_Missense_Mutation_p.E648K			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	678					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATTTGTCTCTCATTCTCCAAG	0.458													8	22					0	0	0	0	T	97117484	C	T	97117484	3	4	428	1	0	0	0	0	1	0	0	0	15015	835	29	2	1954	2	SORBS1	10	97117484	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	21831005	97117484	38417263	45	84220											
NKX6-2	84504	broad.mit.edu	37	chr10	134598434	134598434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcctcacaaggcgtcccCcgcgccgccgccgcacgggc	4	3	14	20	7	1	0	1	0	0	0	3	0	3	0	6	3	0	1	6	3	1	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:134598434C>T	ENST00000368592.5	-	3	923	c.820G>A	c.(820-822)Ggg>Agg	p.G274R		NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN	NK6 homeobox 2	274						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		AAGGCGTCCCCCGCGCCGCCG	0.652													10	20					0	0	0	0	T	134598434	C	T	134598434	3	4	428	1	0	0	0	0	1	0	0	0	10528	623	22	4	17	4	NKX6-2	10	134598434	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	37480950	134598434	936313	46	84221											
HRAS	3265	broad.mit.edu	37	chr11	534286	534286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcactcttgcccacacCgccggcgcccaccaccacca	8	3	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894228		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:534286C>G	ENST00000417302.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			6	43					0	0	0	0	G	534286	C	G	534286	3	3	428	1	0	0	0	0	1	0	0	0	7398	652	23	3	615	3	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08		534286	134472230	47	84222											
OR52D1	390066	broad.mit.edu	37	chr11	5510594	5510594	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccattctcattgccattTcctatggctttatcctccat	7	18	3	13	0	1	0	1	0	1	0	6	0	5	0	5	1	1	1	5	1	2	7			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:5510594T>C	ENST00000322641.5	+	1	680	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGCCATTTCCTATGGCTT	0.502													4	155					0	0	0	0	C	5510594	T	C	5510594	3	2	428	1	0	0	0	0	1	0	0	0	11185	1783	62	5	660	5	OR52D1	11	5510594	Missense_Mutation	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08	4976308	5510594	129495922	48	84223											
RAG2	5897	broad.mit.edu	37	chr11	36615351	36615351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtctttctctgtgcagCgaaaagtaacctttttgttg	9	15	8	9	1	2	0	0	0	2	0	3	1	2	0	2	0	3	3	2	0	4	5	rs144012817	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:36615351C>T	ENST00000311485.3	-	2	529	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	123					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTCTGTGCAGCGAAAAGTAAC	0.398									Familial Hemophagocytic Lymphohistiocytosis				20	66					0	0	0	0	T	36615351	C	T	36615351	3	4	428	1	0	0	0	0	1	0	0	0	13087	768	27	1	1219	1	RAG2	11	36615351	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	31104757	36615351	98391165	49	84224											
DGKZ	8525	broad.mit.edu	37	chr11	46387882	46387882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcggcccagcagcGtggggctgcccacaggcaag	8	2	17	14	2	0	0	0	0	0	0	0	0	0	0	2	5	5	5	2	5	1	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:46387882G>A	ENST00000454345.1	+	2	201	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000456247.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	26					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCAGCAGCGTGGGGCTGCC	0.706													6	12					0	0	0	0	A	46387882	G	A	46387882	3	1	428	1	0	0	0	0	1	0	0	0	4511	1145	40	1	522	1	DGKZ	11	46387882	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	9772531	46387882	88618634	50	84225											
TMEM132A	54972	broad.mit.edu	37	chr11	60702781	60702781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcgctggctgtgacggacGacaaggtctcagtgctggag	8	7	17	9	3	1	1	1	1	1	0	2	4	1	3	0	5	1	3	0	5	1	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:60702781G>A	ENST00000005286.4	+	10	2050	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N	TMEM132A_ENST00000453848.2_Missense_Mutation_p.D632N	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	632	Binds to HSPA5/GRP78 (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGTGACGGACGACAAGGTCTC	0.652													6	15					0	0	0	0	A	60702781	G	A	60702781	3	1	428	1	0	0	0	0	1	0	0	0	16139	1058	37	1	1935	1	TMEM132A	11	60702781	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	14314899	60702781	74303735	51	84226											
SYTL2	54843	broad.mit.edu	37	chr11	85445750	85445750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttggattgaagtatctgCgacagttgacttttcttttg	7	19	9	6	1	2	2	0	2	2	0	2	4	2	3	0	1	1	2	0	1	2	9	rs146760470		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:85445750C>T	ENST00000316356.4	-	7	1186	c.622G>A	c.(622-624)Gca>Aca	p.A208T	SYTL2_ENST00000524452.1_Missense_Mutation_p.A207T|SYTL2_ENST00000389960.4_Missense_Mutation_p.A207T|SYTL2_ENST00000528231.1_Missense_Mutation_p.A207T|SYTL2_ENST00000527523.1_Missense_Mutation_p.A159T			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	207					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAAGTATCTGCGACAGTTGAC	0.358													11	39					0	0	0	0	T	85445750	C	T	85445750	3	4	428	1	0	0	0	0	1	0	0	0	15574	768	27	1	4718	1	SYTL2	11	85445750	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	24742969	85445750	49560766	52	84227											
SLC6A13	6540	broad.mit.edu	37	chr12	330229	330229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgggcacatgagctgaCggattctctgcggggatagc	7	8	16	10	3	1	2	0	2	1	0	2	4	1	4	0	5	3	3	0	5	1	2	rs141229734		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:330229C>T	ENST00000343164.4	-	15	1746	c.1694G>A	c.(1693-1695)cGt>cAt	p.R565H	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R473H	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	565					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CATGAGCTGACGGATTCTCTG	0.652													5	35					0	0	0	0	T	330229	C	T	330229	3	4	428	1	0	0	0	0	1	0	0	0	14764	536	19	1	118	1	SLC6A13	12	330229	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08		330229	133521666	53	84228											
ANO2	57101	broad.mit.edu	37	chr12	5687656	5687656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggggaaaggaggccacGaagagggtgacaaaaccaaa	17	1	15	8	1	0	2	0	1	0	1	0	5	0	4	3	5	1	0	3	5	5	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:5687656G>T	ENST00000356134.5	-	23	2336	c.2265C>A	c.(2263-2265)ttC>ttA	p.F755L	ANO2_ENST00000327087.8_Missense_Mutation_p.F754L|ANO2_ENST00000546188.1_Missense_Mutation_p.F755L	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	759						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.F754F(1)|p.F755F(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGAGGCCACGAAGAGGGTGA	0.552													9	18					3.86212e-05	4.04259e-05	1	0	T	5687656	G	T	5687656	3	4	428	1	0	0	0	0	1	0	0	0	696	1049	37	3	754	3	ANO2	12	5687656	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	5357427	5687656	128164239	54	84229											
PTPRO	5800	broad.mit.edu	37	chr12	15669842	15669842	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctacaatgacatcagagtgGaccacctactatgaaatagc	15	8	8	10	0	1	3	1	2	0	1	1	4	1	4	2	1	3	1	2	1	6	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:15669842G>A	ENST00000281171.4	+	9	2061	c.1731G>A	c.(1729-1731)tgG>tgA	p.W577*	PTPRO_ENST00000348962.2_Nonsense_Mutation_p.W577*|PTPRO_ENST00000543886.1_Nonsense_Mutation_p.W577*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	577	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)				CATCAGAGTGGACCACCTACT	0.448													20	76					0	0	0	0	A	15669842	G	A	15669842	4	1	428	1	0	0	0	0	0	1	0	0	12891	1183	41	2	1765	2	PTPRO	12	15669842	Nonsense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	9982186	15669842	118182053	55	84230											
DENND5B	160518	broad.mit.edu	37	chr12	31540540	31540540	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctagccagttgggttaCacatccactcctttgatgag	8	14	9	10	0	1	2	0	2	1	0	3	2	3	2	3	1	2	3	3	1	2	5			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:31540540C>A	ENST00000389082.5	-	21	4086	c.3822G>T	c.(3820-3822)gtG>gtT	p.V1274V	DENND5B_ENST00000536562.1_Silent_p.V1309V|DENND5B_ENST00000306833.6_Silent_p.V1309V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1274						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGTTGGGTTACACATCCACTC	0.502													5	17					0.0215528	0.0215528	1	0	A	31540540	C	A	31540540	2	1	428	1	0	0	0	0	0	0	0	1	4474	465	17	4		4	DENND5B	12	31540540	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	15870698	31540540	102311355	56	84231											
DENND5B	160518	broad.mit.edu	37	chr12	31542369	31542369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgcaggatgatttctgaAtaaggacatcatcttcatta	12	16	7	6	0	4	2	2	2	2	0	4	4	4	4	0	2	1	1	0	2	3	6			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:31542369A>T	ENST00000389082.5	-	20	3794	c.3530T>A	c.(3529-3531)aTt>aAt	p.I1177N	DENND5B_ENST00000536562.1_Missense_Mutation_p.I1212N|DENND5B_ENST00000306833.6_Missense_Mutation_p.I1212N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1177	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGATTTCTGAATAAGGACATC	0.368													7	13					0	0	0	0	T	31542369	A	T	31542369	3	4	428	1	0	0	0	0	1	0	0	0	4474	101	4	5	302	5	DENND5B	12	31542369	Missense_Mutation	SNP	A	TCGA-HD-A6I0-01A-11D-A31L-08	1829	31542369	102309526	57	84232											
ZDHHC17	23390	broad.mit.edu	37	chr12	77242030	77242030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagactggggactccactgtGagaccacttacaccaaggat	12	8	10	11	0	0	2	0	1	0	2	1	5	1	4	3	3	1	0	3	3	3	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:77242030G>A	ENST00000426126.2	+	15	2174	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.E509K|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	509					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ACTCCACTGTGAGACCACTTA	0.428													6	14					0	0	0	0	A	77242030	G	A	77242030	3	1	428	1	0	0	0	0	1	0	0	0	17702	1291	45	2	1583	2	ZDHHC17	12	77242030	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	45699661	77242030	56609865	58	84233											
CCDC38	120935	broad.mit.edu	37	chr12	96310926	96310926	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctattaatctaggaatCggagcaggacctggcccaaa	12	9	9	11	1	2	0	0	0	2	0	3	3	2	3	3	4	1	1	3	4	5	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:96310926C>T	ENST00000344280.3	-	4	842	c.285G>A	c.(283-285)ccG>ccA	p.P95P		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	95										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCTAGGAATCGGAGCAGGAC	0.388													11	32					0	0	0	0	T	96310926	C	T	96310926	2	4	428	1	0	0	0	0	0	0	0	1	2836	871	31	1		1	CCDC38	12	96310926	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	19068896	96310926	37540969	59	84234											
CLIP1	6249	broad.mit.edu	37	chr12	122862212	122862212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatcttctgcttgcacCttccttgttaactttgaagg	6	17	7	11	0	3	1	1	1	2	0	4	1	4	1	2	1	3	4	2	1	2	7			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:122862212C>T	ENST00000358808.2	-	3	535	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CLIP1_ENST00000540338.1_Silent_p.K127K|CLIP1_ENST00000537178.1_Silent_p.K127K|CLIP1_ENST00000361654.4_Silent_p.K127K|CLIP1_ENST00000302528.7_Silent_p.K127K	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	127					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGCTTGCACCTTCCTTGTTA	0.522													17	82					0	0	0	0	T	122862212	C	T	122862212	2	4	428	1	0	0	0	0	0	0	0	1	3562	680	24	4		4	CLIP1	12	122862212	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	26551286	122862212	10989683	60	84235											
FLT1	2321	broad.mit.edu	37	chr13	28877426	28877426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgccttcgctgacgtGcccacagctggaatggcaga	7	8	13	13	3	0	2	0	1	0	1	1	3	0	3	2	2	3	4	2	2	1	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr13:28877426G>T	ENST00000282397.4	-	30	4146	c.3895C>A	c.(3895-3897)Cac>Aac	p.H1299N	FLT1_ENST00000543394.1_Missense_Mutation_p.H322N|FLT1_ENST00000540678.1_Missense_Mutation_p.H517N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1299					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCGCTGACGTGCCCACAGCTG	0.547													14	46					1.05317e-09	1.1452e-09	1	0	T	28877426	G	T	28877426	3	4	428	1	0	0	0	0	1	0	0	0	5986	1319	46	4	125	4	FLT1	13	28877426	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		28877426	86292452	61	84236											
KLHL1	57626	broad.mit.edu	37	chr13	70681494	70681494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagtcctggctggctgcTgagtgccctgcccaggagcc	6	7	15	13	0	0	2	0	1	0	1	1	4	1	3	4	3	4	3	4	3	0	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr13:70681494T>A	ENST00000377844.4	-	1	1097	c.338A>T	c.(337-339)cAg>cTg	p.Q113L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	113					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGCTGGCTGCTGAGTGCCCTG	0.597													13	49					0	0	0	0	A	70681494	T	A	70681494	3	1	428	1	0	0	0	0	1	0	0	0	8417	1580	55	5	1952	5	KLHL1	13	70681494	Missense_Mutation	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08	41804068	70681494	44488384	62	84237											
LRP10	26020	broad.mit.edu	37	chr14	23345211	23345211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgacggcacagatgaggagGactgcccaggctgcccacct	9	5	13	14	1	0	3	0	2	0	1	0	5	0	5	3	4	2	2	3	4	0	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:23345211G>A	ENST00000359591.4	+	5	1745	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	LRP10_ENST00000546834.1_Missense_Mutation_p.D352N	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	352	LDL-receptor class A 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGATGAGGAGGACTGCCCAGG	0.652													11	15					0	0	0	0	A	23345211	G	A	23345211	3	1	428	1	0	0	0	0	1	0	0	0	9016	1174	41	2	1072	2	LRP10	14	23345211	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		23345211	84004329	63	84238											
AKAP6	9472	broad.mit.edu	37	chr14	33291632	33291632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatctcatgaaatggatcGcatttcatataaaagtggca	14	12	8	7	1	2	1	2	1	1	0	4	2	2	2	0	2	1	3	0	2	4	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:33291632G>A	ENST00000280979.4	+	13	4783	c.4613G>A	c.(4612-4614)cGc>cAc	p.R1538H	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1538					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAATGGATCGCATTTCATAT	0.378													24	52					0	0	0	0	A	33291632	G	A	33291632	3	1	428	1	0	0	0	0	1	0	0	0	455	1087	38	1	4659	1	AKAP6	14	33291632	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	9946421	33291632	74057908	64	84239											
ARG2	384	broad.mit.edu	37	chr14	68113731	68113731	+	Silent	SNP	G	G	A																															atggaacgaacatttgatctGctgattggcaagtaagtaac																										TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:68113731G>A	ENST00000261783.3	+	6	891	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	237					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CATTTGATCTGCTGATTGGCA	0.378													9	31					0	0	0	0	A	68113731	G	A	68113731	2	1	428	1	0	0	0	0	0	0	0	1	860	1306	46	4		4	ARG2	14	68113731	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	34822099	68113731	39235809	65	84240	1060	2									
ARG2	384	broad.mit.edu	37	chr14	68113732	68113732	+	Silent	SNP	C	C	T																															tggaacgaacatttgatctgCtgattggcaagtaagtaact																										TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:68113732C>T	ENST00000261783.3	+	6	892	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	238					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	ATTTGATCTGCTGATTGGCAA	0.378													9	30					0	0	0	0	T	68113732	C	T	68113732	2	4	428	1	0	0	0	0	0	0	0	1	860	796	28	4		4	ARG2	14	68113732	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	1	68113732	39235808	66	84241	1060	2									
FOS	2353	broad.mit.edu	37	chr14	75745804	75745804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagactccttctccagcaTgggctcgcctgtcaacgcgc	6	8	10	17	4	2	1	1	0	1	1	5	1	3	1	3	1	2	3	3	1	1	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:75745804T>C	ENST00000303562.4	+	1	328	c.119T>C	c.(118-120)aTg>aCg	p.M40T	FOS_ENST00000556324.2_3'UTR|FOS_ENST00000535987.1_Missense_Mutation_p.M40T|FOS_ENST00000554617.1_Missense_Mutation_p.M40T|FOS_ENST00000555242.1_Missense_Mutation_p.M40T	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	40					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		TTCTCCAGCATGGGCTCGCCT	0.692													14	51					0	0	0	0	C	75745804	T	C	75745804	3	2	428	1	0	0	0	0	1	0	0	0	6030	1464	51	5	121	5	FOS	14	75745804	Missense_Mutation	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08	7632072	75745804	31603736	67	84242											
ATP10A	57194	broad.mit.edu	37	chr15	25924598	25924598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacgtcccgcttgtccatCtgcaagctgctccgtccggg	4	10	10	17	4	1	0	0	0	1	0	6	0	6	0	5	1	3	4	5	1	1	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:25924598C>G	ENST00000356865.6	-	21	4501	c.4390G>C	c.(4390-4392)Gat>Cat	p.D1464H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1464					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTTGTCCATCTGCAAGCTGC	0.577													44	48					0	0	0	0	G	25924598	C	G	25924598	3	3	428	1	0	0	0	0	1	0	0	0	1120	913	32	2	113	2	ATP10A	15	25924598	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08		25924598	76606794	68	84243											
MGA	23269	broad.mit.edu	37	chr15	42052633	42052633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaatgagcggcggcGgcgtggtgaaatgagggatc	9	6	17	9	4	0	3	0	3	0	0	1	4	0	4	1	5	2	0	1	5	2	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:42052633G>A	ENST00000219905.7	+	20	7485	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q|MGA_ENST00000570161.1_Missense_Mutation_p.R2435Q	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2396	Helix-loop-helix motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R2484Q(4)		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)		GAGCGGCGGCGGCGTGGTGAA	0.438													26	101					0	0	0	0	A	42052633	G	A	42052633	3	1	428	1	0	0	0	0	1	0	0	0	9609	1116	39	1	7378	1	MGA	15	42052633	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	16128035	42052633	60478759	69	84244											
SORD	6652	broad.mit.edu	37	chr15	45357482	45357482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaggcttcctgacaatGtcacctttgaggaaggcgcc	8	10	10	13	1	2	2	2	2	0	0	4	3	4	3	4	3	0	1	4	3	2	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:45357482G>A	ENST00000267814.9	+	5	619	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	SORD_ENST00000558580.1_Missense_Mutation_p.V126I	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	147					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TCCTGACAATGTCACCTTTGA	0.483													66	67					0	0	0	0	A	45357482	G	A	45357482	3	1	428	1	0	0	0	0	1	0	0	0	15021	1377	48	4	457	4	SORD	15	45357482	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	3304849	45357482	57173910	70	84245											
MAP2K1	5604	broad.mit.edu	37	chr15	66779609	66779609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatggcaatttttgagttGttggattacatagtcaacga	11	14	9	7	1	1	1	1	1	0	0	1	3	1	2	1	2	2	3	1	2	4	6			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:66779609G>T	ENST00000307102.5	+	8	1470	c.939G>T	c.(937-939)ttG>ttT	p.L313F	MAP2K1_ENST00000566326.1_Missense_Mutation_p.L137F	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	313	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTTTTGAGTTGTTGGATTACA	0.403													20	84					4.16121e-05	4.31533e-05	1	0	T	66779609	G	T	66779609	3	4	428	1	0	0	0	0	1	0	0	0	9305	1368	48	4	969	4	MAP2K1	15	66779609	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	21422127	66779609	35751783	71	84246											
ALPK3	57538	broad.mit.edu	37	chr15	85403074	85403074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtagactgcggtgtgtatCggtgcaccatccacaatgag	9	9	12	11	3	0	2	0	1	0	1	2	2	1	2	3	2	2	3	3	2	3	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:85403074C>T	ENST00000258888.5	+	8	4806	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1547	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGTGTGTATCGGTGCACCAT	0.687													13	49					0	0	0	0	T	85403074	C	T	85403074	3	4	428	1	0	0	0	0	1	0	0	0	546	875	31	1	4669	1	ALPK3	15	85403074	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	18623465	85403074	17128318	72	84247											
ZNF48	197407	broad.mit.edu	37	chr16	30409623	30409623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgagtcaaacacctccGcacccacagtggcgagaggc	10	3	11	17	4	1	1	1	0	0	1	2	3	2	1	4	2	1	1	4	2	1	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:30409623G>A	ENST00000320159.2	+	2	1428	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	351				R -> H (in Ref. 2; AAH41388).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AAACACCTCCGCACCCACAGT	0.652													28	54					0	0	0	0	A	30409623	G	A	30409623	3	1	428	1	0	0	0	0	1	0	0	0	18029	1087	38	1	1058	1	ZNF48	16	30409623	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		30409623	59945130	73	84248											
KCTD19	146212	broad.mit.edu	37	chr16	67333315	67333315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgtacagtcggcttcCgtctagcgtgctctcgatgc	5	13	12	11	4	2	1	0	1	2	0	5	2	3	1	1	1	4	3	1	1	2	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:67333315C>T	ENST00000304372.5	-	6	992	c.937G>A	c.(937-939)Gga>Aga	p.G313R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	313						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTCGGCTTCCGTCTAGCGTG	0.597													27	57					0	0	0	0	T	67333315	C	T	67333315	3	4	428	1	0	0	0	0	1	0	0	0	8159	661	23	1	1887	1	KCTD19	16	67333315	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	36923692	67333315	23021438	74	84249											
JPH3	57338	broad.mit.edu	37	chr16	87678390	87678390	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgctccggcttcggcgtgagCcagcgctcggacgggctcaa	5	6	15	15	7	1	1	1	1	0	0	4	2	2	2	2	4	2	4	2	4	1	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:87678390C>T	ENST00000284262.2	+	2	1151	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	303					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCGGCGTGAGCCAGCGCTCGG	0.672													13	49					0	0	0	0	T	87678390	C	T	87678390	2	4	428	1	0	0	0	0	0	0	0	1	8015	738	26	4		4	JPH3	16	87678390	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	20345075	87678390	2676363	75	84250											
ALOX15B	247	broad.mit.edu	37	chr17	7951872	7951872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctcatcgagaacagcGtctccatctaaatcccaggg	10	8	7	16	2	3	1	1	0	2	1	7	2	5	1	4	1	2	0	4	1	3	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:7951872G>A	ENST00000380183.4	+	14	2159	c.2020G>A	c.(2020-2022)Gtc>Atc	p.V674I	ALOX15B_ENST00000573359.1_Missense_Mutation_p.V600I|ALOX15B_ENST00000380173.2_Missense_Mutation_p.V645I|ALOX15B_ENST00000572022.1_Missense_Mutation_p.V662I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	674	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGAGAACAGCGTCTCCATCTA	0.582													16	53					0	0	0	0	A	7951872	G	A	7951872	3	1	428	1	0	0	0	0	1	0	0	0	539	1145	40	1	2074	1	ALOX15B	17	7951872	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		7951872	73243338	76	84251											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531385	43531385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccagtcctcagcttcGtcctgggaggaggcgcgcag	6	7	14	14	3	1	0	1	0	0	0	5	2	4	2	4	3	2	2	4	3	0	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:43531385G>A	ENST00000430334.3	-	7	1966	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.D522D	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	611	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCTCAGCTTCGTCCTGGGAGG	0.652													19	41					0	0	0	0	A	43531385	G	A	43531385	2	1	428	1	0	0	0	0	0	0	0	1	12152	1136	40	1		1	PLEKHM1	17	43531385	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	35579513	43531385	37663825	77	84252											
CACNA1G	8913	broad.mit.edu	37	chr17	48669100	48669100	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcccccttgtgcccacagCatcctgggcatgcatctctt	5	11	9	16	0	1	0	0	0	1	0	3	0	2	0	4	2	3	3	4	2	0	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:48669100C>A	ENST00000352832.5	+	12	3012	c.2639_splice	c.e12-1	p.S880_splice	CACNA1G_ENST00000510366.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000358244.5_Splice_Site_p.S880_splice|CACNA1G_ENST00000502264.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000359106.5_Splice_Site_p.S880_splice|CACNA1G_ENST00000507896.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000514717.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000507510.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000360761.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000514181.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000507609.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000354983.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000429973.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000416767.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000442258.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000507336.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000503485.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000515765.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000505165.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000515411.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000510115.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000515165.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000512389.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000513689.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000514079.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000513964.1_Splice_Site_p.S880_splice	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	880					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCCCACAGCATCCTGGGCA	0.637													10	29					1.58986e-06	1.69585e-06	1	0	A	48669100	C	A	48669100	5	1	428	1	0	0	0	0	0	0	1	0	2569	724	25	4	2686	4	CACNA1G	17	48669100	Splice_Site	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	5137715	48669100	32526110	78	84253											
SDK2	54549	broad.mit.edu	37	chr17	71418542	71418542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggtagctttggggtcCacactggccaggagtacagt	9	9	14	9	0	0	1	0	1	0	0	1	2	1	2	2	5	2	3	2	5	2	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:71418542C>T	ENST00000392650.3	-	15	1929	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	SDK2_ENST00000388726.3_Silent_p.V643V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	643	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTTGGGGTCCACACTGGCCA	0.577													35	93					0	0	0	0	T	71418542	C	T	71418542	2	4	428	1	0	0	0	0	0	0	0	1	14056	581	21	4		4	SDK2	17	71418542	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	22749442	71418542	9776668	79	84254											
RNF213	57674	broad.mit.edu	37	chr17	78286919	78286919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagaagtttttacaaagaaCatgctcacatcttcaggtgc	13	11	8	9	1	3	2	2	0	1	2	3	3	3	2	0	1	4	2	0	1	4	4	rs146200316		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:78286919C>T	ENST00000582970.1	+	15	2906	c.2763C>T	c.(2761-2763)aaC>aaT	p.N921N	RNF213_ENST00000319921.4_Silent_p.N921N|RNF213_ENST00000456466.1_Silent_p.N921N|RNF213_ENST00000508628.2_Silent_p.N970N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	921										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)			TTACAAAGAACATGCTCACAT	0.468													22	98					0	0	0	0	T	78286919	C	T	78286919	2	4	428	1	0	0	0	0	0	0	0	1	13562	477	17	4		4	RNF213	17	78286919	Silent	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	6868377	78286919	2908291	80	84255											
EMILIN2	84034	broad.mit.edu	37	chr18	2891051	2891051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgacggtgaccatgaCaaccaacgaactctaccaag	13	4	10	14	3	1	2	0	2	1	0	1	4	1	2	4	2	4	0	4	2	5	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr18:2891051C>A	ENST00000254528.3	+	4	1085	c.926C>A	c.(925-927)aCa>aAa	p.T309K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	309					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTGACCATGACAACCAACGAA	0.542													25	87					4.26978e-12	4.68838e-12	1	0	A	2891051	C	A	2891051	3	1	428	1	0	0	0	0	1	0	0	0	5132	478	17	4	940	4	EMILIN2	18	2891051	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08		2891051	75186197	81	84256											
TCEB3B	51224	broad.mit.edu	37	chr18	44560303	44560303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccggcggaatcagcgcCggccgcctgcagcctctctg	4	5	14	18	6	2	0	1	0	1	0	3	1	2	1	5	4	3	1	5	4	1	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr18:44560303C>T	ENST00000332567.4	-	1	1685	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	445					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAATCAGCGCCGGCCGCCTGC	0.592													34	89					0	0	0	0	T	44560303	C	T	44560303	3	4	428	1	0	0	0	0	1	0	0	0	15776	652	23	1	932	1	TCEB3B	18	44560303	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	41669252	44560303	33516945	82	84257											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388200	46388200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgccggaaccacaggggTattcggtgaagagcttcagc	10	8	13	10	2	1	2	1	1	0	1	2	3	1	3	2	4	4	2	2	4	3	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:46388200T>C	ENST00000302165.3	-	1	1176	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		ACCACAGGGGTATTCGGTGAA	0.617													15	38					0	0	0	0	C	46388200	T	C	46388200	3	2	428	1	0	0	0	0	1	0	0	0	7882	1638	57	5	925	5	IRF2BP1	19	46388200	Missense_Mutation	SNP	T	TCGA-HD-A6I0-01A-11D-A31L-08		46388200	12740783	83	84258											
NKG7	4818	broad.mit.edu	37	chr19	51875069	51875069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacggggaccgccacagtGagcacccaggctcagggcac	10	2	15	14	2	1	1	1	1	0	0	1	3	1	3	3	5	1	3	3	5	0	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:51875069G>A	ENST00000221978.5	-	4	639	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	NKG7_ENST00000595217.1_3'UTR|NKG7_ENST00000600427.1_Missense_Mutation_p.H74Y	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	154						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCGCCACAGTGAGCACCCAGG	0.587													78	197					0	0	0	0	A	51875069	G	A	51875069	3	1	428	1	0	0	0	0	1	0	0	0	10513	1290	45	2	41	2	NKG7	19	51875069	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	5486869	51875069	7253914	84	84259											
ZNF808	388558	broad.mit.edu	37	chr19	53058397	53058397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtgagtgcagcaagaCgttcagtcagaaggcaaccc	12	7	13	9	1	2	3	2	1	0	2	2	3	2	3	1	1	3	5	1	1	4	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:53058397C>T	ENST00000359798.4	+	5	2408	c.2228C>T	c.(2227-2229)aCg>aTg	p.T743M		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGCAGCAAGACGTTCAGTCAG	0.458													33	99					0	0	0	0	T	53058397	C	T	53058397	3	4	428	1	0	0	0	0	1	0	0	0	18266	536	19	1	2238	1	ZNF808	19	53058397	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	1183328	53058397	6070586	85	84260											
USP29	57663	broad.mit.edu	37	chr19	57640887	57640887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgactctcattcacagCaactgcagcaggggttcccc	8	10	8	15	0	3	1	2	1	2	0	5	1	4	1	2	2	4	4	2	2	1	3			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:57640887C>A	ENST00000254181.4	+	4	1298	c.844C>A	c.(844-846)Caa>Aaa	p.Q282K	USP29_ENST00000598197.1_Missense_Mutation_p.Q282K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	282					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCACAGCAACTGCAGCA	0.463													6	26					5.9392e-07	6.39606e-07	1	0	A	57640887	C	A	57640887	3	1	428	1	0	0	0	0	1	0	0	0	17155	711	25	4	846	4	USP29	19	57640887	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	4582490	57640887	1488096	86	84261											
RRBP1	6238	broad.mit.edu	37	chr20	17610502	17610502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctcctgggccttctcGgcatccgcccggaggctggc	2	10	14	15	3	1	0	0	0	1	0	4	1	3	1	4	5	1	4	4	5	0	2	rs143484132		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:17610502G>A	ENST00000377813.1	-	9	3018	c.2715C>T	c.(2713-2715)gcC>gcT	p.A905A	RRBP1_ENST00000360807.4_Silent_p.A472A|RRBP1_ENST00000246043.4_Silent_p.A905A|RRBP1_ENST00000455029.2_Silent_p.A246A|RRBP1_ENST00000377807.2_Silent_p.A472A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	905					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGCCTTCTCGGCATCCGCCC	0.711													10	33					0	0	0	0	A	17610502	G	A	17610502	2	1	428	1	0	0	0	0	0	0	0	1	13763	1103	39	1		1	RRBP1	20	17610502	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		17610502	45415018	87	84262											
PAX1	5075	broad.mit.edu	37	chr20	21687662	21687662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggccctcggcacactcGgtcagcaacatcctgggcat	8	8	10	15	2	2	0	2	0	0	0	5	0	3	0	2	4	2	3	2	4	1	0			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:21687662G>A	ENST00000398485.2	+	2	927	c.873G>A	c.(871-873)tcG>tcA	p.S291S	PAX1_ENST00000444366.2_Silent_p.S267S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	291					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGCACACTCGGTCAGCAACA	0.677													7	35					0	0	0	0	A	21687662	G	A	21687662	2	1	428	1	0	0	0	0	0	0	0	1	11549	1103	39	1		1	PAX1	20	21687662	Silent	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	4077160	21687662	41337858	88	84263											
PTPRT	11122	broad.mit.edu	37	chr20	40710554	40710554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgttggatttgttgttacGcagtgttttcacgatgtgga	7	17	12	5	2	1	0	1	0	0	0	1	3	1	2	0	2	1	5	0	2	1	6			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:40710554G>A	ENST00000373198.3	-	31	4541	c.4306C>T	c.(4306-4308)Cgt>Tgt	p.R1436C	PTPRT_ENST00000373187.1_Missense_Mutation_p.R1414C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGTTGTTACGCAGTGTTTTC	0.507													20	60					0	0	0	0	A	40710554	G	A	40710554	3	1	428	1	0	0	0	0	1	0	0	0	12894	1087	38	1	93	1	PTPRT	20	40710554	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08	19022892	40710554	22314966	89	84264											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31844167	31844167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatggggctcatgggtttgCgcatgccttggaatggatct	6	13	15	7	1	2	1	1	1	1	0	2	3	2	3	1	5	2	3	1	5	1	2			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr22:31844167C>T	ENST00000397525.1	-	13	2043	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATGGGTTTGCGCATGCCTTG	0.537													4	124					0	0	0	0	T	31844167	C	T	31844167	3	4	428	1	0	0	0	0	1	0	0	0	5073	768	27	1	1168	1	EIF4ENIF1	22	31844167	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08		31844167	19460399	90	84265											
DEPDC5	9681	broad.mit.edu	37	chr22	32253484	32253484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaagagctccgcccagtCagccgagagcagcagcgttg	9	5	15	12	3	1	2	1	0	0	2	2	4	2	3	3	1	5	4	3	1	1	1			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr22:32253484C>T	ENST00000400246.1	+	32	3351	c.3209C>T	c.(3208-3210)tCa>tTa	p.S1070L	DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1061L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S992L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S992L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1070L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1061L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1070L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S1061L			O75140	DEPD5_HUMAN	DEP domain containing 5	1061					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCGCCCAGTCAGCCGAGAGC	0.592													8	11					0	0	0	0	T	32253484	C	T	32253484	3	4	428	1	0	0	0	0	1	0	0	0	4479	838	29	2	3322	2	DEPDC5	22	32253484	Missense_Mutation	SNP	C	TCGA-HD-A6I0-01A-11D-A31L-08	409317	32253484	19051082	91	84266											
SCML1	6322	broad.mit.edu	37	chrX	17771493	17771493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattgaccgacttaaacaagGaaaatgctttgaaaattgaa	18	10	7	6	1	0	3	0	3	0	0	0	5	0	4	1	1	2	1	1	1	8	4			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chrX:17771493G>A	ENST00000380043.3	+	7	1218	c.890G>A	c.(889-891)gGa>gAa	p.G297E	SCML1_ENST00000380045.3_Missense_Mutation_p.G203E|SCML1_ENST00000398080.1_Missense_Mutation_p.G203E|SCML1_ENST00000380041.3_Missense_Mutation_p.G324E	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	324	SAM.				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTTAAACAAGGAAAATGCTTT	0.448													14	11					0	0	0	0	A	17771493	G	A	17771493	3	1	428	1	0	0	0	0	1	0	0	0	13996	1174	41	2	1000	2	SCML1	23	17771493	Missense_Mutation	SNP	G	TCGA-HD-A6I0-01A-11D-A31L-08		17771493	137499067	92	84267											
RNF207	388591	broad.mit.edu	37	chr1	6267454	6267454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagacaccagacggtgctGaagggtcccagcgggctccc	8	5	14	14	2	0	3	0	1	0	2	2	3	2	3	3	3	3	3	3	3	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:6267454G>A	ENST00000377939.4	+	3	334	c.207G>A	c.(205-207)ctG>ctA	p.L69L	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	69						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGACGGTGCTGAAGGGTCCCA	0.672													4	16					0	0	0	0	A	6267454	G	A	6267454	2	1	429	1	0	0	0	0	0	0	0	1	13559	1277	45	2		2	RNF207	1	6267454	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08		6267454	242983167	1	84268											
SLC2A5	6518	broad.mit.edu	37	chr1	9117565	9117565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccgataaaccctccaaatgGaaacatggacacggttacag	15	7	8	11	2	0	0	0	0	0	0	2	3	2	2	3	3	3	1	3	3	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:9117565G>C	ENST00000377424.4	-	3	414	c.235C>G	c.(235-237)Cca>Gca	p.P79A	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Missense_Mutation_p.P79A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	79					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCAAATGGAAACATGGAC	0.453													6	38					0	0	0	0	C	9117565	G	C	9117565	3	2	429	1	0	0	0	0	1	0	0	0	14636	1174	41	2	1474	2	SLC2A5	1	9117565	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2850111	9117565	240133056	2	84269											
CASZ1	54897	broad.mit.edu	37	chr1	10725203	10725203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccccgtccgaatccttctCctccagggcaccgccgtcct	4	9	8	20	4	1	0	0	0	1	0	6	1	5	0	9	1	1	1	9	1	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:10725203C>G	ENST00000377022.3	-	5	759	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.E148Q	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAATCCTTCTCCTCCAGGGCA	0.682													8	27					0	0	0	0	G	10725203	C	G	10725203	3	3	429	1	0	0	0	0	1	0	0	0	2710	864	30	2	4909	2	CASZ1	1	10725203	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1607638	10725203	238525418	3	84270											
MTOR	2475	broad.mit.edu	37	chr1	11318648	11318648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtagactcctcttgactCatctgcaaaagaagatataa	15	10	7	9	1	3	4	1	1	2	3	4	5	4	4	1	0	1	2	1	0	6	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:11318648C>A	ENST00000361445.4	-	3	241	c.165G>T	c.(163-165)atG>atT	p.M55I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	55					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCTCTTGACTCATCTGCAAAA	0.428													12	27					6.40141e-05	6.4797e-05	1	0	A	11318648	C	A	11318648	3	1	429	1	0	0	0	0	1	0	0	0	10024	826	29	2	7708	2	MTOR	1	11318648	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	593445	11318648	237931973	4	84271											
PTCHD2	57540	broad.mit.edu	37	chr1	11561810	11561810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgcccgccgaggcgcctCgcgctgggactactcgcgcg	3	5	15	18	9	0	0	0	0	0	0	2	2	0	1	4	2	2	1	4	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:11561810C>T	ENST00000294484.6	+	2	899	c.761C>T	c.(760-762)tCg>tTg	p.S254L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S254L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	254					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGAGGCGCCTCGCGCTGGGAC	0.706													5	6					0	0	0	0	T	11561810	C	T	11561810	3	4	429	1	0	0	0	0	1	0	0	0	12812	893	31	1	763	1	PTCHD2	1	11561810	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	243162	11561810	237688811	5	84272											
MAD2L2	10459	broad.mit.edu	37	chr1	11736195	11736195	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgagacaacagcgagtctGagctgggagtgagaggaggt	12	6	17	6	1	1	3	0	3	1	2	1	8	1	5	0	3	3	1	0	3	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:11736195G>C	ENST00000235310.3	-	8	1263	c.335C>G	c.(334-336)tCa>tGa	p.S112*	MAD2L2_ENST00000376667.3_Nonsense_Mutation_p.S112*|MAD2L2_ENST00000376672.1_Nonsense_Mutation_p.S125*|MAD2L2_ENST00000376692.4_Nonsense_Mutation_p.S112*|MAD2L2_ENST00000376669.5_Nonsense_Mutation_p.S125*			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	112	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCGAGTCTGAGCTGGGAGT	0.622								DNA polymerases (catalytic subunits)					9	15					0	0	0	0	C	11736195	G	C	11736195	4	2	429	1	0	0	0	0	0	1	0	0	9215	1294	45	2	316	2	MAD2L2	1	11736195	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	174385	11736195	237514426	6	84273											
KIAA2013	90231	broad.mit.edu	37	chr1	11983377	11983377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatggtggcgtgcccgctGaagcagtgatcttcatagtt	7	12	13	9	2	2	2	1	2	1	0	2	2	2	2	1	2	3	4	1	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:11983377G>A	ENST00000376572.3	-	2	1388	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	KIAA2013_ENST00000376576.3_Silent_p.F401F	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	401						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGCCCGCTGAAGCAGTGAT	0.647													18	43					0	0	0	0	A	11983377	G	A	11983377	2	1	429	1	0	0	0	0	0	0	0	1	8318	1281	45	2		2	KIAA2013	1	11983377	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	247182	11983377	237267244	7	84274											
VPS13D	55187	broad.mit.edu	37	chr1	12443080	12443080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatggagctgaagttgttCttggtcctgacacttccatg	7	15	11	8	0	1	3	0	3	1	0	3	4	3	4	2	2	1	3	2	2	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:12443080C>G	ENST00000358136.3	+	58	11366	c.11236C>G	c.(11236-11238)Ctt>Gtt	p.L3746V	VPS13D_ENST00000356315.4_Missense_Mutation_p.L3721V|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3745					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAAGTTGTTCTTGGTCCTGA	0.428													13	136					0	0	0	0	G	12443080	C	G	12443080	3	3	429	1	0	0	0	0	1	0	0	0	17288	913	32	2	11462	2	VPS13D	1	12443080	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	459703	12443080	236807541	8	84275											
VPS13D	55187	broad.mit.edu	37	chr1	12445358	12445358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaagcagccgttcatatGaagtggatgaacttcctgtc	12	10	11	8	1	1	2	1	2	0	0	3	4	2	4	2	2	3	2	2	2	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:12445358G>A	ENST00000358136.3	+	59	11540	c.11410G>A	c.(11410-11412)Gaa>Aaa	p.E3804K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3779K|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3803					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCGTTCATATGAAGTGGATGA	0.373													19	27					0	0	0	0	A	12445358	G	A	12445358	3	1	429	1	0	0	0	0	1	0	0	0	17288	1291	45	2	11640	2	VPS13D	1	12445358	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2278	12445358	236805263	9	84276											
TMEM51	55092	broad.mit.edu	37	chr1	15545832	15545832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcttgcagccaggaggaaGaagaggaggatgaggaggct	12	6	17	6	0	1	3	0	1	1	2	1	8	1	8	1	6	2	2	1	6	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:15545832G>C	ENST00000428417.1	+	3	801	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	TMEM51_ENST00000376008.2_Missense_Mutation_p.E119Q|TMEM51_ENST00000434578.2_Missense_Mutation_p.K117N|TMEM51_ENST00000400796.3_Missense_Mutation_p.E119Q|TMEM51_ENST00000376014.3_Missense_Mutation_p.E119Q	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	119						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCAGGAGGAAGAAGAGGAGGA	0.517													6	43					0	0	0	0	C	15545832	G	C	15545832	3	2	429	1	0	0	0	0	1	0	0	0	16271	943	33	2	361	2	TMEM51	1	15545832	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3100474	15545832	233704789	10	84277			1	126		3	3	257	G		2.589321e-05
TMEM51	55092	broad.mit.edu	37	chr1	15545933	15545933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggagaggagcagaacccGaggttgagcatctctctccc	10	6	14	11	1	2	3	0	1	2	2	4	6	2	4	2	4	3	3	2	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:15545933G>A	ENST00000428417.1	+	3	902	c.456G>A	c.(454-456)ccG>ccA	p.P152P	TMEM51_ENST00000376008.2_Silent_p.P152P|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000400796.3_Silent_p.P152P|TMEM51_ENST00000376014.3_Silent_p.P152P	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	152						integral to membrane		p.P152P(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCAGAACCCGAGGTTGAGCA	0.582													9	74					0	0	0	0	A	15545933	G	A	15545933	2	1	429	1	0	0	0	0	0	0	0	1	16271	1045	37	1		1	TMEM51	1	15545933	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	101	15545933	233704688	11	84278			1	126		3	3	257	G		2.589321e-05
TMEM51	55092	broad.mit.edu	37	chr1	15546088	15546088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaaaccgctgaaagttcGaaggattaaatctgaaaagc	17	8	9	7	2	1	3	0	3	1	0	2	5	1	4	1	1	2	2	1	1	7	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:15546088G>A	ENST00000428417.1	+	3	1057	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	TMEM51_ENST00000376008.2_Missense_Mutation_p.R204Q|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000400796.3_Missense_Mutation_p.R204Q|TMEM51_ENST00000376014.3_Missense_Mutation_p.R204Q	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	204						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTGAAAGTTCGAAGGATTAAA	0.537													47	90					0	0	0	0	A	15546088	G	A	15546088	3	1	429	1	0	0	0	0	1	0	0	0	16271	1058	37	1	617	1	TMEM51	1	15546088	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	155	15546088	233704533	12	84279			1	126		3	3	257	G		2.589321e-05
ZBTB17	7709	broad.mit.edu	37	chr1	16269653	16269653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcggatgttgtcgtggtgGcgaatatgattggccaactg	7	11	17	6	3	0	1	0	1	0	0	1	3	0	2	1	5	1	1	1	5	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:16269653G>T	ENST00000375733.2	-	13	1972	c.1734C>A	c.(1732-1734)cgC>cgA	p.R578R	ZBTB17_ENST00000375743.4_Silent_p.R578R|ZBTB17_ENST00000537142.1_Silent_p.R496R			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	578					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCGTGGTGGCGAATATGAT	0.597													38	83					1.30998e-17	1.36849e-17	1	0	T	16269653	G	T	16269653	2	4	429	1	0	0	0	0	0	0	0	1	17622	1190	42	4		4	ZBTB17	1	16269653	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	723565	16269653	232980968	13	84280											
CROCC	9696	broad.mit.edu	37	chr1	17249276	17249276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gattgtcacccgcaacctctCccagcctgagagcccaggtg	8	7	10	16	1	2	1	1	1	1	1	3	3	2	1	5	1	3	1	5	1	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:17249276C>G	ENST00000375541.5	+	2	248	c.179C>G	c.(178-180)tCc>tGc	p.S60C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	60					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCAACCTCTCCCAGCCTGAG	0.612													27	110					0	0	0	0	G	17249276	C	G	17249276	3	3	429	1	0	0	0	0	1	0	0	0	3923	855	30	2	185	2	CROCC	1	17249276	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	979623	17249276	232001345	14	84281											
LDLRAD2	401944	broad.mit.edu	37	chr1	22142484	22142484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatggcaggtgcatcccctCaagcctcgtgtgtgacccct	7	9	11	14	1	1	1	1	1	0	0	3	2	2	1	5	2	2	2	5	2	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:22142484C>T	ENST00000344642.2	+	3	747	c.560C>T	c.(559-561)tCa>tTa	p.S187L	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.S187L	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	187	LDL-receptor class A.					integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TGCATCCCCTCAAGCCTCGTG	0.627													24	53					0	0	0	0	T	22142484	C	T	22142484	3	4	429	1	0	0	0	0	1	0	0	0	8759	838	29	2	570	2	LDLRAD2	1	22142484	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4893208	22142484	227108137	15	84282											
HSPG2	3339	broad.mit.edu	37	chr1	22156492	22156492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggctcccctcaccttcctCacaccgcaaccccgagcggc	6	6	7	22	3	2	0	2	0	0	0	4	1	4	0	7	2	2	2	7	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:22156492C>T	ENST00000374695.3	-	86	11843	c.11764G>A	c.(11764-11766)Gag>Aag	p.E3922K	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3922	EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCACCTTCCTCACACCGCAAC	0.697													5	8					0	0	0	0	T	22156492	C	T	22156492	3	4	429	1	0	0	0	0	1	0	0	0	7483	835	29	2	1459	2	HSPG2	1	22156492	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	14008	22156492	227094129	16	84283											
HSPG2	3339	broad.mit.edu	37	chr1	22175513	22175513	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acctggagcaggcgtagcctCgagccatgcacctgggaggg	8	5	16	12	2	0	0	0	0	0	0	1	3	0	2	4	4	4	3	4	4	1	1	rs146046708		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:22175513C>G	ENST00000374695.3	-	58	7537	c.7458G>C	c.(7456-7458)tcG>tcC	p.S2486S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2486	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCGTAGCCTCGAGCCATGCA	0.647													46	95					0	0	0	0	G	22175513	C	G	22175513	2	3	429	1	0	0	0	0	0	0	0	1	7483	871	31	3		3	HSPG2	1	22175513	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	19021	22175513	227075108	17	84284											
SLC30A2	7780	broad.mit.edu	37	chr1	26370859	26370859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagagggagaagaggctGatgagcatgctggcaaagtc	13	6	15	7	0	0	5	0	2	0	3	2	6	1	5	1	3	2	4	1	3	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:26370859G>A	ENST00000374276.3	-	3	584	c.348C>T	c.(346-348)atC>atT	p.I116I	SLC30A2_ENST00000374278.3_Intron|SLC30A2_ENST00000498060.1_5'UTR	NM_001004434.1	NP_001004434.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	90					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGCTGATGAGCATGC	0.592													10	29					0	0	0	0	A	26370859	G	A	26370859	2	1	429	1	0	0	0	0	0	0	0	1	14643	1280	45	2		2	SLC30A2	1	26370859	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4195346	26370859	222879762	18	84285											
CNKSR1	10256	broad.mit.edu	37	chr1	26510743	26510743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgcctttgacctgtcttCaaaccccagtcccggaccca	7	11	6	17	1	2	1	1	1	1	0	3	2	3	2	6	1	2	0	6	1	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:26510743C>T	ENST00000531191.1	+	10	1198	c.191C>T	c.(190-192)tCa>tTa	p.S64L	CNKSR1_ENST00000361530.6_Missense_Mutation_p.S322L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.S329L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	329	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGTCTTCAAACCCCAGT	0.622													49	124					0	0	0	0	T	26510743	C	T	26510743	3	4	429	1	0	0	0	0	1	0	0	0	3636	838	29	2	1007	2	CNKSR1	1	26510743	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	139884	26510743	222739878	19	84286											
SESN2	83667	broad.mit.edu	37	chr1	28599970	28599970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcccaggaggagatggaGagccgctttgagctggagaa	11	6	16	8	2	0	4	0	1	0	3	1	8	1	5	2	4	2	2	2	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:28599970G>A	ENST00000253063.3	+	6	1173	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	284					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGATGGAGAGCCGCTTTG	0.632													10	13					0	0	0	0	A	28599970	G	A	28599970	2	1	429	1	0	0	0	0	0	0	0	1	14212	933	33	2		2	SESN2	1	28599970	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2089227	28599970	220650651	20	84287											
COL16A1	1307	broad.mit.edu	37	chr1	32158237	32158237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctctcccttcgggccttCtgcacactgaacaggggaac	7	10	9	15	1	2	1	0	1	2	0	5	2	3	2	2	3	3	1	2	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:32158237C>G	ENST00000373672.3	-	15	1636	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q	COL16A1_ENST00000373668.3_Missense_Mutation_p.E374Q|COL16A1_ENST00000271069.6_Missense_Mutation_p.E374Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	374	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTCGGGCCTTCTGCACACTGA	0.642													19	31					0	0	0	0	G	32158237	C	G	32158237	3	3	429	1	0	0	0	0	1	0	0	0	3703	922	32	2	3922	2	COL16A1	1	32158237	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3558267	32158237	217092384	21	84288											
BAI2	576	broad.mit.edu	37	chr1	32206008	32206008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgtcagtgacattcctCagaatgtccacagagaagag	14	8	11	8	0	2	4	2	1	0	3	4	5	4	4	2	1	0	0	2	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:32206008C>T	ENST00000373658.3	-	12	2270	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	BAI2_ENST00000257070.4_Silent_p.L643L|BAI2_ENST00000527361.1_Silent_p.L643L|BAI2_ENST00000398547.1_Silent_p.L576L|BAI2_ENST00000398556.3_Silent_p.L591L|BAI2_ENST00000440175.2_Silent_p.L285L|BAI2_ENST00000373655.2_Silent_p.L643L|BAI2_ENST00000398542.1_Silent_p.L576L|BAI2_ENST00000398538.1_Silent_p.L631L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	643					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGACATTCCTCAGAATGTCCA	0.612													6	21					0	0	0	0	T	32206008	C	T	32206008	2	4	429	1	0	0	0	0	0	0	0	1	1303	813	29	2		2	BAI2	1	32206008	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	47771	32206008	217044613	22	84289											
SPOCD1	90853	broad.mit.edu	37	chr1	32257955	32257955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtagagcaggcggcagttCtgggtgtcccgggccccatg	6	7	17	11	2	1	1	0	0	1	1	2	2	2	1	3	4	1	4	3	4	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:32257955C>T	ENST00000360482.2	-	15	2952	c.2823G>A	c.(2821-2823)caG>caA	p.Q941Q	SPOCD1_ENST00000533231.1_Silent_p.Q941Q|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.Q434Q	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	941	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCGGCAGTTCTGGGTGTCCC	0.647													8	34					0	0	0	0	T	32257955	C	T	32257955	2	4	429	1	0	0	0	0	0	0	0	1	15168	912	32	2		2	SPOCD1	1	32257955	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	51947	32257955	216992666	23	84290											
TXLNA	200081	broad.mit.edu	37	chr1	32660619	32660619	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaagagggtacaggacctGagtgctggtggccagggctc	10	6	16	9	0	0	2	0	1	0	1	1	3	0	3	2	5	3	3	2	5	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:32660619G>C	ENST00000373609.1	+	10	1745	c.1464G>C	c.(1462-1464)ctG>ctC	p.L488L	TXLNA_ENST00000373610.3_Silent_p.L488L			P40222	TXLNA_HUMAN	taxilin alpha	488					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TACAGGACCTGAGTGCTGGTG	0.627													24	38					0	0	0	0	C	32660619	G	C	32660619	2	2	429	1	0	0	0	0	0	0	0	1	16883	1277	45	2		2	TXLNA	1	32660619	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	402664	32660619	216590002	24	84291											
YARS	8565	broad.mit.edu	37	chr1	33272155	33272155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacctcagctccagccttCttggaatcgtgctgtgtgac	7	11	9	14	1	2	1	1	1	1	0	4	2	3	2	4	1	3	2	4	1	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:33272155C>G	ENST00000373477.4	-	4	1346	c.438G>C	c.(436-438)aaG>aaC	p.K146N		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	146					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTCCAGCCTTCTTGGAATCGT	0.547													32	77					0	0	0	0	G	33272155	C	G	33272155	3	3	429	1	0	0	0	0	1	0	0	0	17563	912	32	2	1188	2	YARS	1	33272155	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	611536	33272155	215978466	25	84292											
CSMD2	114784	broad.mit.edu	37	chr1	34008457	34008457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccatcactgaacacaactCgggcattacttggagtccca	11	8	9	13	1	1	1	1	1	0	0	3	2	2	2	2	3	3	1	2	3	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:34008457C>T	ENST00000373381.4	-	58	9316	c.9140G>A	c.(9139-9141)cGa>cAa	p.R3047Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3022	Sushi 23.					integral to membrane|plasma membrane	protein binding	p.R2903L(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)				GAACACAACTCGGGCATTACT	0.517													5	20					0	0	0	0	T	34008457	C	T	34008457	3	4	429	1	0	0	0	0	1	0	0	0	3977	884	31	1	1807	1	CSMD2	1	34008457	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	736302	34008457	215242164	26	84293											
UTP11L	51118	broad.mit.edu	37	chr1	38478530	38478530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcgggaacacagagagcGaagccaggtaggaccataca	15	2	14	10	2	0	1	0	0	0	1	0	5	0	3	2	3	5	2	2	3	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:38478530G>A	ENST00000373014.4	+	1	117	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	UTP11L_ENST00000537711.1_Missense_Mutation_p.R19Q	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	19					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACAGAGAGCGAAGCCAGGTA	0.612													43	107					0	0	0	0	A	38478530	G	A	38478530	3	1	429	1	0	0	0	0	1	0	0	0	17190	1058	37	1	58	1	UTP11L	1	38478530	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4470073	38478530	210772091	27	84294											
GUCA2A	2980	broad.mit.edu	37	chr1	42628642	42628642	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggtcctcagcgatttcctCtgcacaacagagatggagcc	9	8	11	13	2	2	1	1	0	1	1	4	4	4	2	3	2	4	1	3	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:42628642C>G	ENST00000357001.2	-	3	289		c.e3-1			NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)						signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGATTTCCTCTGCACAACAG	0.637													19	38					0	0	0	0	G	42628642	C	G	42628642	5	3	429	1	0	0	0	0	0	0	1	0	6941	927	32	2	68	2	GUCA2A	1	42628642	Splice_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4150112	42628642	206621979	28	84295											
WDR65	149465	broad.mit.edu	37	chr1	43672569	43672569	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattatctttgctgttggatCagaccacaccctcaaggaga	12	11	8	10	0	3	2	2	0	1	2	3	4	3	3	2	2	1	2	2	2	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:43672569C>G	ENST00000372492.4	+	10	2045	c.1721C>G	c.(1720-1722)tCa>tGa	p.S574*	WDR65_ENST00000528956.1_Nonsense_Mutation_p.S574*	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	574										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGTTGGATCAGACCACACC	0.542													8	35					0	0	0	0	G	43672569	C	G	43672569	4	3	429	1	0	0	0	0	0	1	0	0	17412	838	29	2	1755	2	WDR65	1	43672569	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1043927	43672569	205578052	29	84296											
C1orf210	149466	broad.mit.edu	37	chr1	43748554	43748554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcatcatcctcatcttCagccacctgtgggcggcctc	6	10	8	17	1	5	0	4	0	1	0	7	0	6	0	5	2	1	0	5	2	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:43748554C>T	ENST00000523677.1	-	3	477	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	C1orf210_ENST00000423420.1_Missense_Mutation_p.E82K	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	82						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCTCATCTTCAGCCACCTGT	0.607													25	42					0	0	0	0	T	43748554	C	T	43748554	3	4	429	1	0	0	0	0	1	0	0	0	2049	835	29	2	101	2	C1orf210	1	43748554	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	75985	43748554	205502067	30	84297											
PTPRF	5792	broad.mit.edu	37	chr1	44056897	44056897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgggcgagggccgcccagcGaggcagtgcgggcacgcacg	6	2	19	14	7	0	0	0	0	0	0	1	2	0	0	2	4	2	3	2	4	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:44056897G>A	ENST00000359947.4	+	9	1544	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	PTPRF_ENST00000372414.3_Missense_Mutation_p.E402K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E402K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E402K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	402	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E392K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCGCCCAGCGAGGCAGTGCG	0.697													9	13					0	0	0	0	A	44056897	G	A	44056897	3	1	429	1	0	0	0	0	1	0	0	0	12883	1059	37	1	1230	1	PTPRF	1	44056897	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	308343	44056897	205193724	31	84298											
LEPR	3953	broad.mit.edu	37	chr1	66067149	66067149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcactgcatctataagaagGaaaacaagattgttccctca	15	11	6	9	0	3	2	2	0	1	2	4	3	4	3	1	1	2	2	1	1	6	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:66067149G>A	ENST00000349533.6	+	9	1254	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	LEPR_ENST00000371060.3_Missense_Mutation_p.E357K|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.E357K|LEPR_ENST00000371059.3_Missense_Mutation_p.E357K|LEPR_ENST00000344610.8_Missense_Mutation_p.E357K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	357	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTATAAGAAGGAAAACAAGAT	0.358													13	26					0	0	0	0	A	66067149	G	A	66067149	3	1	429	1	0	0	0	0	1	0	0	0	8781	1175	41	2	1095	2	LEPR	1	66067149	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	22010252	66067149	183183472	32	84299											
IL12RB2	3595	broad.mit.edu	37	chr1	67833595	67833595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcccaggaaagatccctCtgctgttcaggagtacgtgg	8	9	12	12	1	2	1	1	0	1	1	4	3	4	3	3	3	2	3	3	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:67833595C>G	ENST00000262345.1	+	10	1986	c.1346C>G	c.(1345-1347)tCt>tGt	p.S449C	IL12RB2_ENST00000544434.1_Missense_Mutation_p.S449C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.S449C|IL12RB2_ENST00000371000.1_Missense_Mutation_p.S449C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	449	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AAAGATCCCTCTGCTGTTCAG	0.557													22	57					0	0	0	0	G	67833595	C	G	67833595	3	3	429	1	0	0	0	0	1	0	0	0	7680	913	32	2	1380	2	IL12RB2	1	67833595	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1766446	67833595	181417026	33	84300											
GNG12	55970	broad.mit.edu	37	chr1	68171194	68171194	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaagttggtattcctatCagcaaagggtcactcctggc	9	12	10	10	0	3	1	2	1	1	0	5	1	5	1	2	3	1	3	2	3	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:68171194C>G	ENST00000370982.3	-	4	358	c.159G>C	c.(157-159)ctG>ctC	p.L53L		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	53					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			lung(3)	3						GTATTCCTATCAGCAAAGGGT	0.433													7	45					0	0	0	0	G	68171194	C	G	68171194	2	3	429	1	0	0	0	0	0	0	0	1	6576	813	29	2		2	GNG12	1	68171194	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	337599	68171194	181079427	34	84301											
COL24A1	255631	broad.mit.edu	37	chr1	86591780	86591780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttttaaaaatgactcctGattctgttaaatggaccccc	12	14	5	10	0	1	2	0	2	1	0	2	3	2	3	3	1	0	1	3	1	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:86591780G>A	ENST00000370571.2	-	3	605	c.239C>T	c.(238-240)tCa>tTa	p.S80L	COL24A1_ENST00000436319.1_Missense_Mutation_p.S80L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	80	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATGACTCCTGATTCTGTTAA	0.438													18	48					0	0	0	0	A	86591780	G	A	86591780	3	1	429	1	0	0	0	0	1	0	0	0	3713	1294	45	2	5137	2	COL24A1	1	86591780	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	18420586	86591780	162658841	35	84302											
GBP1	2633	broad.mit.edu	37	chr1	89523838	89523838	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtgaacgggccgatcaaaGacaaagcattttttctttgg	11	11	11	8	3	2	2	1	1	1	1	2	3	2	2	1	3	2	1	1	3	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:89523838G>C	ENST00000370473.4	-	6	930	c.711C>G	c.(709-711)gtC>gtG	p.V237V		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	237					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCCGATCAAAGACAAAGCATT	0.423													88	187					0	0	0	0	C	89523838	G	C	89523838	2	2	429	1	0	0	0	0	0	0	0	1	6322	929	33	2		2	GBP1	1	89523838	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2932058	89523838	159726783	36	84303											
BRDT	676	broad.mit.edu	37	chr1	92469996	92469996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagattaagaatgcagattCatggaaaagtttaggcaaac	19	9	9	4	0	1	3	1	0	0	3	1	4	1	4	0	2	2	3	0	2	7	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:92469996C>T	ENST00000370389.2	+	17	3119	c.2195C>T	c.(2194-2196)tCa>tTa	p.S732L	BRDT_ENST00000394530.3_Missense_Mutation_p.S759L|BRDT_ENST00000399546.2_Missense_Mutation_p.S805L|BRDT_ENST00000402388.1_Missense_Mutation_p.S805L|BRDT_ENST00000362005.3_Missense_Mutation_p.S805L	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AATGCAGATTCATGGAAAAGT	0.328													28	54					0	0	0	0	T	92469996	C	T	92469996	3	4	429	1	0	0	0	0	1	0	0	0	1516	838	29	2	2476	2	BRDT	1	92469996	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2946158	92469996	156780625	37	84304											
MTF2	22823	broad.mit.edu	37	chr1	93594843	93594843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaaatttaggtttatgtCtgggaaagaaataaagaaga	19	12	9	1	0	1	3	0	0	1	3	1	4	1	4	0	2	0	1	0	2	10	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:93594843C>T	ENST00000370298.4	+	11	1287	c.998C>T	c.(997-999)tCt>tTt	p.S333F	MTF2_ENST00000370303.4_Intron|MTF2_ENST00000540243.1_Missense_Mutation_p.S231F|MTF2_ENST00000545708.1_Missense_Mutation_p.S231F|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	333						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		aGGTTTATGTCTGGGAAAGAA	0.323													21	39					0	0	0	0	T	93594843	C	T	93594843	3	4	429	1	0	0	0	0	1	0	0	0	9993	913	32	2	1040	2	MTF2	1	93594843	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1124847	93594843	155655778	38	84305											
SASS6	163786	broad.mit.edu	37	chr1	100551111	100551111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaattactaaataggttCtggctgagtccgcgtaaagg	11	11	11	8	2	1	2	0	2	1	0	2	2	2	2	2	3	1	3	2	3	7	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:100551111C>T	ENST00000287482.5	-	16	1988	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.Q449Q	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	616					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TAAATAGGTTCTGGCTGAGTC	0.333													16	54					0	0	0	0	T	100551111	C	T	100551111	2	4	429	1	0	0	0	0	0	0	0	1	13936	912	32	2		2	SASS6	1	100551111	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6956268	100551111	148699510	39	84306											
GSTM4	2948	broad.mit.edu	37	chr1	110201668	110201668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtccttgacctccaccGtatatttgagcccaactgct	8	13	7	13	1	0	3	0	3	0	0	2	3	2	3	5	0	3	2	5	0	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:110201668G>A	ENST00000369833.1	+	5	1294	c.380G>A	c.(379-381)cGt>cAt	p.R127H	GSTM4_ENST00000326729.5_Missense_Mutation_p.R168H|GSTM4_ENST00000369836.4_Missense_Mutation_p.R168H|GSTM4_ENST00000336075.5_Missense_Mutation_p.R107H|GSTM4_ENST00000495742.1_3'UTR			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	168	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GACCTCCACCGTATATTTGAG	0.498													5	492					0	0	0	0	A	110201668	G	A	110201668	3	1	429	1	0	0	0	0	1	0	0	0	6890	1145	40	1	529	1	GSTM4	1	110201668	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	9650557	110201668	139048953	40	84307											
KCNA2	3737	broad.mit.edu	37	chr1	111146078	111146078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttctacttttctttaggtCaggggaggatgggatctttg	7	16	12	6	0	4	0	1	0	3	0	4	3	4	3	0	5	1	0	0	5	2	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:111146078C>T	ENST00000485317.1	-	3	2000	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	KCNA2_ENST00000440270.1_Missense_Mutation_p.D443N|KCNA2_ENST00000316361.4_Missense_Mutation_p.D443N|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	443						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TTCTTTAGGTCAGGGGAGGAT	0.448													22	59					0	0	0	0	T	111146078	C	T	111146078	3	4	429	1	0	0	0	0	1	0	0	0	8056	826	29	2	176	2	KCNA2	1	111146078	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	944410	111146078	138104543	41	84308											
CHIA	27159	broad.mit.edu	37	chr1	111861134	111861134	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattatgtcatgaactactGgaaggacaatggagcaccag	14	8	12	7	0	1	1	1	1	0	0	1	5	1	5	1	4	3	1	1	4	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:111861134G>A	ENST00000369740.1	+	9	852	c.749G>A	c.(748-750)tGg>tAg	p.W250*	CHIA_ENST00000353665.6_Nonsense_Mutation_p.W89*|CHIA_ENST00000343320.6_Nonsense_Mutation_p.W250*|CHIA_ENST00000483391.1_Nonsense_Mutation_p.W89*|CHIA_ENST00000451398.2_Nonsense_Mutation_p.W89*|CHIA_ENST00000430615.1_Nonsense_Mutation_p.W142*|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	250					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ATGAACTACTGGAAGGACAAT	0.488													12	74					0	0	0	0	A	111861134	G	A	111861134	4	1	429	1	0	0	0	0	0	1	0	0	3371	1357	47	4	779	4	CHIA	1	111861134	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	715056	111861134	137389487	42	84309											
VANGL1	81839	broad.mit.edu	37	chr1	116227957	116227957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcatccacattcagcgtCtccaggctgaggagcagcag	9	8	10	14	1	3	1	2	1	1	0	5	2	4	2	3	2	3	3	3	2	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:116227957C>T	ENST00000355485.2	+	7	1394	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	VANGL1_ENST00000369510.3_Missense_Mutation_p.L373F|VANGL1_ENST00000310260.3_Missense_Mutation_p.L375F|VANGL1_ENST00000369509.1_Missense_Mutation_p.L375F	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	375					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATTCAGCGTCTCCAGGCTGA	0.582													19	27					0	0	0	0	T	116227957	C	T	116227957	3	4	429	1	0	0	0	0	1	0	0	0	17215	913	32	2	1145	2	VANGL1	1	116227957	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4366823	116227957	133022664	43	84310											
TRIM45	80263	broad.mit.edu	37	chr1	117659368	117659368	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccgggctctgtggaggtCtgaaaaagataaacactcgg	11	8	12	10	2	2	2	0	1	2	1	4	3	3	3	1	4	1	1	1	4	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:117659368C>T	ENST00000256649.4	-	3	1749		c.e3-1		TRIM45_ENST00000369461.3_Splice_Site|TRIM45_ENST00000369464.3_Splice_Site	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45							cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTGTGGAGGTCTGAAAAAGAT	0.483													14	45					0	0	0	0	T	117659368	C	T	117659368	5	4	429	1	0	0	0	0	0	0	1	0	16615	927	32	2	536	2	TRIM45	1	117659368	Splice_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1431411	117659368	131591253	44	84311											
WARS2	10352	broad.mit.edu	37	chr1	119575539	119575539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcgttgaaacttcctataGaaaacccaccaatttcttca	14	13	3	11	1	2	2	1	1	1	1	4	2	3	2	3	0	2	1	3	0	6	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:119575539G>A	ENST00000235521.4	-	6	1104	c.1078C>T	c.(1078-1080)Cta>Tta	p.L360L	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Silent_p.L266L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	360			L -> P (in dbSNP:rs17023101).		tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACTTCCTATAGAAAACCCACC	0.403													14	38					0	0	0	0	A	119575539	G	A	119575539	2	1	429	1	0	0	0	0	0	0	0	1	17346	933	33	2		2	WARS2	1	119575539	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1916171	119575539	129675082	45	84312											
SEC22B	9554	broad.mit.edu	37	chr1	145112502	145112502	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcgaagaagtgttacaacGaggagaagcactctcaggta	15	8	11	7	2	1	2	1	0	1	2	3	5	1	2	0	2	3	3	0	2	7	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145112502G>A	ENST00000453618.1	+	0	803							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										GTGTTACAACGAGGAGAAGCA	0.413													6	92					0	0	0	0	A	145112502	G	A	145112502	1	1	429	0	1	0	0	0	0	0	0	0	14076	1058	37	1		1	SEC22B	1	145112502	RNA	SNP	G	TCGA-HL-7533-01A-11D-2229-08	25536963	145112502	104138119	46	84313											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273310	145273310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccacgtgccgatgtgcctCagggtttacaggagaggact	9	8	14	10	2	1	1	1	0	0	1	1	4	1	2	3	3	4	1	3	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145273310C>T	ENST00000369340.3	+	4	608	c.164C>T	c.(163-165)tCa>tTa	p.S55L	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.S55L|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.S55L|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.S55L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	55	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CGATGTGCCTCAGGGTTTACA	0.562													30	359					0	0	0	0	T	145273310	C	T	145273310	3	4	429	1	0	0	0	0	1	0	0	0	10619	838	29	2	170	2	NOTCH2NL	1	145273310	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	160808	145273310	103977311	47	84314											
ANKRD35	148741	broad.mit.edu	37	chr1	145562415	145562415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctcccagagcagcggtctCcgagggctgtgggactgcct	5	7	15	14	2	1	1	0	0	1	1	3	3	2	2	4	3	3	2	4	3	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145562415C>T	ENST00000355594.4	+	10	2190	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	701										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGCGGTCTCCGAGGGCTGT	0.632													17	38					0	0	0	0	T	145562415	C	T	145562415	2	4	429	1	0	0	0	0	0	0	0	1	663	842	30	2		2	ANKRD35	1	145562415	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	289105	145562415	103688206	48	84315											
PDZK1	5174	broad.mit.edu	37	chr1	145762294	145762294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctaaagaaggaatagtggtgGagtcaaaccatgactcgcac	15	7	11	8	1	1	2	1	1	0	1	2	4	1	4	1	3	1	1	1	3	6	2	rs2306523		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145762294G>C	ENST00000344770.2	+	8	1544	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	PDZK1_ENST00000417171.1_Missense_Mutation_p.E491Q|PDZK1_ENST00000451928.2_Missense_Mutation_p.E380Q|PDZK1_ENST00000465595.1_3'UTR	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	491					carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AATAGTGGTGGAGTCAAACCA	0.448													12	45					0	0	0	0	C	145762294	G	C	145762294	3	2	429	1	0	0	0	0	1	0	0	0	11778	1175	41	2	1497	2	PDZK1	1	145762294	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	199879	145762294	103488327	49	84316											
CA14	23632	broad.mit.edu	37	chr1	150236243	150236243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttggctgtctctgccttCtcctggctgtttatttcatt	2	20	9	10	0	3	0	1	0	2	0	5	0	3	0	2	3	1	4	2	3	1	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:150236243C>T	ENST00000369111.4	+	10	1883	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	305						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCTGCCTTCTCCTGGCTGT	0.428													75	167					0	0	0	0	T	150236243	C	T	150236243	3	4	429	1	0	0	0	0	1	0	0	0	2540	913	32	2	951	2	CA14	1	150236243	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4473949	150236243	99014378	50	84317											
SETDB1	9869	broad.mit.edu	37	chr1	150933151	150933151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttcaaagaaggatatgaGagtgatgccccctgttcctc	12	10	9	10	0	1	3	1	2	0	2	3	5	2	4	3	1	2	1	3	1	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:150933151G>C	ENST00000271640.5	+	16	2803	c.2613G>C	c.(2611-2613)gaG>gaC	p.E871D	SETDB1_ENST00000368969.4_Missense_Mutation_p.E871D|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	871	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.E871D(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGATATGAGAGTGATGCCC	0.488													61	68					0	0	0	0	C	150933151	G	C	150933151	3	2	429	1	0	0	0	0	1	0	0	0	14225	933	33	2	2671	2	SETDB1	1	150933151	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	696908	150933151	98317470	51	84318											
FLG	2312	broad.mit.edu	37	chr1	152277860	152277860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtctcctgattgttcctCattacgtgttgttctgcttg	3	19	9	10	1	3	1	1	1	2	0	5	1	4	1	2	0	2	5	2	0	1	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:152277860C>G	ENST00000368799.1	-	3	9537	c.9502G>C	c.(9502-9504)Gag>Cag	p.E3168Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3168	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTACGTGTT	0.552									Ichthyosis				146	466					0	0	0	0	G	152277860	C	G	152277860	3	3	429	1	0	0	0	0	1	0	0	0	5967	835	29	2	2687	2	FLG	1	152277860	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1344709	152277860	96972761	52	84319											
LCE1F	353137	broad.mit.edu	37	chr1	152748864	152748864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatgtcttgccagcagaGccagcagcagtgccagcccc	9	5	12	15	1	1	2	0	0	1	2	1	3	1	2	5	0	7	3	5	0	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:152748864G>T	ENST00000334371.2	+	1	17	c.17G>T	c.(16-18)aGc>aTc	p.S6I		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	6					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCAGCAGAGCCAGCAGCAG	0.617													30	78					9.78306e-22	1.02299e-21	1	0	T	152748864	G	T	152748864	3	4	429	1	0	0	0	0	1	0	0	0	8717	971	34	4	19	4	LCE1F	1	152748864	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	471004	152748864	96501757	53	84320											
UBAP2L	9898	broad.mit.edu	37	chr1	154223770	154223770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaactgaaacagcagaaGaaaaaagcctccttgacttc	18	6	7	10	0	0	5	0	2	0	3	2	5	1	5	2	0	4	1	2	0	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:154223770G>A	ENST00000428931.1	+	13	1634	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	UBAP2L_ENST00000361546.2_Silent_p.K489K|UBAP2L_ENST00000343815.6_Silent_p.K489K|UBAP2L_ENST00000271877.7_Silent_p.K500K	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	489					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACAGCAGAAGAAAAAAGCCT	0.463													18	89					0	0	0	0	A	154223770	G	A	154223770	2	1	429	1	0	0	0	0	0	0	0	1	16934	933	33	2		2	UBAP2L	1	154223770	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1474906	154223770	95026851	54	84321											
ADAR	103	broad.mit.edu	37	chr1	154561029	154561029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaggaactgtacagacctGatatacagatggaatgacac	17	7	9	8	0	0	4	0	2	0	2	0	6	0	6	1	2	4	1	1	2	6	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:154561029G>A	ENST00000368474.4	-	10	3082	c.2883C>T	c.(2881-2883)atC>atT	p.I961I	ADAR_ENST00000368471.3_Silent_p.I666I|ADAR_ENST00000292205.5_Silent_p.I1004I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	961	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTACAGACCTGATATACAGAT	0.453													62	68					0	0	0	0	A	154561029	G	A	154561029	2	1	429	1	0	0	0	0	0	0	0	1	281	1280	45	2		2	ADAR	1	154561029	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	337259	154561029	94689592	55	84322											
KRTCAP2	200185	broad.mit.edu	37	chr1	155145307	155145307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgacggctgtacatctgcatCccagcaaagagcagcaggga	12	6	12	11	1	1	2	0	1	1	1	2	3	2	3	1	2	5	6	1	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:155145307C>T	ENST00000295682.4	-	2	174	c.144G>A	c.(142-144)ggG>ggA	p.G48G	KRTCAP2_ENST00000490672.1_5'UTR	NM_173852.3	NP_776251.1	Q8N6L1	KTAP2_HUMAN	keratinocyte associated protein 2	48						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATCTGCATCCCAGCAAAGA	0.637													20	43					0	0	0	0	T	155145307	C	T	155145307	2	4	429	1	0	0	0	0	0	0	0	1	8631	842	30	2		2	KRTCAP2	1	155145307	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	584278	155145307	94105314	56	84323											
OR10J1	26476	broad.mit.edu	37	chr1	159410406	159410406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgaccagctgatctcggtGacctacactgtcatcactcc	9	10	7	15	1	3	3	2	3	1	0	5	3	4	3	3	1	2	1	3	1	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:159410406G>A	ENST00000423932.3	+	1	895	c.858G>A	c.(856-858)gtG>gtA	p.V286V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	286					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGATCTCGGTGACCTACACTG	0.512													41	141					0	0	0	0	A	159410406	G	A	159410406	2	1	429	1	0	0	0	0	0	0	0	1	10981	1277	45	2		2	OR10J1	1	159410406	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4265099	159410406	89840215	57	84324											
ATP1A2	477	broad.mit.edu	37	chr1	160093059	160093059	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagatgggcccaacgccctCacaccacctcccacaacccc	10	3	6	22	2	1	1	1	0	0	1	2	2	2	1	7	1	2	0	7	1	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:160093059C>G	ENST00000361216.3	+	4	323	c.234C>G	c.(232-234)ctC>ctG	p.L78L	ATP1A2_ENST00000392233.3_Silent_p.L78L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	78					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAACGCCCTCACACCACCTC	0.632													98	101					0	0	0	0	G	160093059	C	G	160093059	2	3	429	1	0	0	0	0	0	0	0	1	1133	813	29	2		2	ATP1A2	1	160093059	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	682653	160093059	89157562	58	84325											
PEA15	8682	broad.mit.edu	37	chr1	160181451	160181451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgaaaagagtgaggagatCactactggcagtgcctggtt	12	8	14	7	1	1	3	1	1	0	2	1	5	1	3	1	3	3	2	1	3	3	2	rs146555291	byFrequency	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:160181451C>T	ENST00000368076.1	+	4	528	c.180C>T	c.(178-180)atC>atT	p.I60I	PEA15_ENST00000360472.4_Silent_p.I39I|PEA15_ENST00000368077.1_Intron|PEA15_ENST00000488858.1_3'UTR			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	39	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGAGGAGATCACTACTGGCA	0.547													25	79					0	0	0	0	T	160181451	C	T	160181451	2	4	429	1	0	0	0	0	0	0	0	1	11782	816	29	2		2	PEA15	1	160181451	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	88392	160181451	89069170	59	84326											
HSPA6	3310	broad.mit.edu	37	chr1	161496277	161496277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatctgtcgccccatcttctCcaggctctatggggggcctg	5	11	11	14	1	4	0	0	0	4	0	6	0	4	0	4	4	0	1	4	4	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:161496277C>T	ENST00000309758.4	+	1	2242	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	610					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCATCTTCTCCAGGCTCTAT	0.622													10	5					0	0	0	0	T	161496277	C	T	161496277	3	4	429	1	0	0	0	0	1	0	0	0	7467	855	30	2	1831	2	HSPA6	1	161496277	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1314826	161496277	87754344	60	84327											
FCGR3B	2215	broad.mit.edu	37	chr1	161596169	161596169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctccttgaacacccaccGaggggcctggagcaacagcc	9	6	10	16	1	0	1	0	1	0	0	2	3	2	2	6	3	4	1	6	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:161596169G>A	ENST00000294800.3	-	4	616	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.R151W|FCGR3B_ENST00000367964.2_Missense_Mutation_p.R115W|FCGR2B_ENST00000428605.2_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	115					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACACCCACCGAGGGGCCTGG	0.557													21	20					0	0	0	0	A	161596169	G	A	161596169	3	1	429	1	0	0	0	0	1	0	0	0	5830	1057	37	1	366	1	FCGR3B	1	161596169	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	99892	161596169	87654452	61	84328											
MAEL	84944	broad.mit.edu	37	chr1	166958997	166958997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagggaggaagaaaaggaGaaatacgcagaaatggctcg	17	4	15	5	2	0	4	0	1	0	3	1	7	0	6	0	4	1	2	0	4	6	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:166958997G>C	ENST00000367872.4	+	2	400	c.156G>C	c.(154-156)gaG>gaC	p.E52D	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	52					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAGAAAAGGAGAAATACGCAG	0.552													10	41					0	0	0	0	C	166958997	G	C	166958997	3	2	429	1	0	0	0	0	1	0	0	0	9219	933	33	2	162	2	MAEL	1	166958997	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5362828	166958997	82291624	62	84329											
DUSP27	92235	broad.mit.edu	37	chr1	167097473	167097473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcaagttcccgagaggaGagcccagagccctacttctt	10	8	9	14	1	2	3	1	0	1	3	3	5	3	3	4	1	3	1	4	1	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:167097473G>A	ENST00000361200.2	+	6	3271	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	DUSP27_ENST00000271385.5_Silent_p.E1035E|DUSP27_ENST00000443333.1_Silent_p.E1035E|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1035	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCGAGAGGAGAGCCCAGAGC	0.592													22	36					0	0	0	0	A	167097473	G	A	167097473	2	1	429	1	0	0	0	0	0	0	0	1	4860	933	33	2		2	DUSP27	1	167097473	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	138476	167097473	82153148	63	84330											
TNN	63923	broad.mit.edu	37	chr1	175049448	175049448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcagatccaagtgcccaagGagcagcacagctatgagatt	14	6	11	10	0	0	2	0	1	0	2	1	4	1	3	2	1	5	4	2	1	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:175049448G>C	ENST00000239462.4	+	4	1047	c.934G>C	c.(934-936)Gag>Cag	p.E312Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	312	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGTGCCCAAGGAGCAGCACAG	0.552													28	54					0	0	0	0	C	175049448	G	C	175049448	3	2	429	1	0	0	0	0	1	0	0	0	16417	1175	41	2	944	2	TNN	1	175049448	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7951975	175049448	74201173	64	84331											
PAPPA2	60676	broad.mit.edu	37	chr1	176679256	176679256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacccgggcttactcctctCatgaagacaagaagaagtgt	12	9	9	11	1	1	4	1	1	1	3	3	4	2	4	2	1	2	1	2	1	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:176679256C>T	ENST00000367662.3	+	11	4759	c.3595C>T	c.(3595-3597)Cat>Tat	p.H1199Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1199					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTACTCCTCTCATGAAGACAA	0.448													25	94					0	0	0	0	T	176679256	C	T	176679256	3	4	429	1	0	0	0	0	1	0	0	0	11504	826	29	2	3686	2	PAPPA2	1	176679256	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1629808	176679256	72571365	65	84332											
ASTN1	460	broad.mit.edu	37	chr1	176983994	176983994	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatccttcatgtagccttCatagcagaggcattcccctt	8	13	8	12	0	2	1	2	0	0	1	4	2	4	2	4	2	2	3	4	2	2	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:176983994C>A	ENST00000367654.2	-	8	1493	c.1480G>T	c.(1480-1482)Gaa>Taa	p.E494*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E486*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E486*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E486*			O14525	ASTN1_HUMAN	astrotactin 1	494	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATGTAGCCTTCATAGCAGAGG	0.438													7	350					0.00198382	0.00199681	1	0	A	176983994	C	A	176983994	4	1	429	1	0	0	0	0	0	1	0	0	1068	835	29	2	2496	2	ASTN1	1	176983994	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	304738	176983994	72266627	66	84333											
CEP350	9857	broad.mit.edu	37	chr1	180022904	180022904	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaactgaacatgccattctCaggaggacaagatagctttt	13	10	10	8	0	1	2	1	1	1	1	2	5	1	5	1	3	4	1	1	3	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:180022904C>G	ENST00000367607.3	+	24	5427	c.5009C>G	c.(5008-5010)tCa>tGa	p.S1670*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1670						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGCCATTCTCAGGAGGACAA	0.383													11	141					0	0	0	0	G	180022904	C	G	180022904	4	3	429	1	0	0	0	0	0	1	0	0	3283	838	29	2	5099	2	CEP350	1	180022904	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3038910	180022904	69227717	67	84334											
IER5	51278	broad.mit.edu	37	chr1	181058848	181058848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacgtggctaacctcatCagcatcttcggttccagttt	8	12	10	11	2	3	0	2	0	1	0	5	1	4	1	2	3	3	4	2	3	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:181058848C>T	ENST00000367577.4	+	1	1211	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	270										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CTAACCTCATCAGCATCTTCG	0.652													20	24					0	0	0	0	T	181058848	C	T	181058848	2	4	429	1	0	0	0	0	0	0	0	1	7561	816	29	2		2	IER5	1	181058848	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1035944	181058848	68191773	68	84335											
HMCN1	83872	broad.mit.edu	37	chr1	186056718	186056718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatgggcggatgataacaGagtctactcatgtggagatt	13	10	13	5	1	2	4	1	1	1	3	2	6	2	5	0	3	2	0	0	3	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:186056718G>A	ENST00000271588.4	+	60	9533	c.9304G>A	c.(9304-9306)Gag>Aag	p.E3102K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3102K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3102	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATGATAACAGAGTCTACTCA	0.428													42	135					0	0	0	0	A	186056718	G	A	186056718	3	1	429	1	0	0	0	0	1	0	0	0	7270	943	33	2	9542	2	HMCN1	1	186056718	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4997870	186056718	63193903	69	84336											
HMCN1	83872	broad.mit.edu	37	chr1	186089237	186089237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgtggcccagaacccGgctggtacagccttgggcaa	8	8	14	11	1	0	1	0	0	0	1	0	1	0	1	3	4	3	3	3	4	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:186089237G>A	ENST00000271588.4	+	80	12418	c.12189G>A	c.(12187-12189)ccG>ccA	p.P4063P	HMCN1_ENST00000367492.2_Silent_p.P4063P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4063	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAGAACCCGGCTGGTACAG	0.448													22	26					0	0	0	0	A	186089237	G	A	186089237	2	1	429	1	0	0	0	0	0	0	0	1	7270	1103	39	1		1	HMCN1	1	186089237	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	32519	186089237	63161384	70	84337											
B3GALT2	8707	broad.mit.edu	37	chr1	193150607	193150607	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaacactagagaaagtactCcaataagatgagtgcggaac	18	6	10	7	1	0	3	0	1	0	2	1	6	1	4	1	1	4	1	1	1	7	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:193150607C>G	ENST00000367434.4	-	2	841	c.86G>C	c.(85-87)gGa>gCa	p.G29A	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	29					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AGAAAGTACTCCAATAAGATG	0.423													29	60					0	0	0	0	G	193150607	C	G	193150607	3	3	429	1	0	0	0	0	1	0	0	0	1252	855	30	2	1186	2	B3GALT2	1	193150607	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	7061370	193150607	56100014	71	84338											
PHLDA3	23612	broad.mit.edu	37	chr1	201437683	201437683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgatctcgccgcccccttCggtcaccagcgtgaagtaga	7	8	11	15	5	2	2	1	1	1	1	5	3	2	2	4	1	1	1	4	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:201437683C>T	ENST00000367311.3	-	1	629	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	PHLDA3_ENST00000367309.1_Missense_Mutation_p.E78K|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	78	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						CCGCCCCCTTCGGTCACCAGC	0.667													31	123					0	0	0	0	T	201437683	C	T	201437683	3	4	429	1	0	0	0	0	1	0	0	0	11922	893	31	1	155	1	PHLDA3	1	201437683	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8287076	201437683	47812938	72	84339											
NFASC	23114	broad.mit.edu	37	chr1	204955121	204955121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagcttccctggtgaccgCctccgtggcgtggtgtcccg	2	9	14	16	4	0	1	0	1	0	0	3	1	3	1	6	3	1	1	6	3	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:204955121C>T	ENST00000367172.4	+	23	2998	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R	NFASC_ENST00000338515.6_Silent_p.R890R|NFASC_ENST00000404076.1_Silent_p.R869R|NFASC_ENST00000404907.1_Silent_p.R886R|NFASC_ENST00000367170.4_Silent_p.R890R|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000513543.1_Silent_p.R886R|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367171.4_Silent_p.R875R|NFASC_ENST00000539706.1_Silent_p.R886R|NFASC_ENST00000360049.4_Silent_p.R886R|NFASC_ENST00000338586.6_Silent_p.R890R			O94856	NFASC_HUMAN	neurofascin	890	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTGGTGACCGCCTCCGTGGCG	0.592													8	32					0	0	0	0	T	204955121	C	T	204955121	2	4	429	1	0	0	0	0	0	0	0	1	10429	726	26	4		4	NFASC	1	204955121	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3517438	204955121	44295500	73	84340											
C1orf115	79762	broad.mit.edu	37	chr1	220864029	220864029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcccaggaagaggtaccgGaggaagctgaagaagtacgg	14	3	16	8	2	0	3	0	1	0	2	0	6	0	6	2	5	4	3	2	5	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:220864029G>A	ENST00000294889.5	+	1	843	c.285G>A	c.(283-285)cgG>cgA	p.R95R		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	95						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		AGAGGTACCGGAGGAAGCTGA	0.736													4	7					0	0	0	0	A	220864029	G	A	220864029	2	1	429	1	0	0	0	0	0	0	0	1	2007	1161	41	2		2	C1orf115	1	220864029	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	15908908	220864029	28386592	74	84341											
SUSD4	55061	broad.mit.edu	37	chr1	223465979	223465979	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggggtcagcacacacttGaaggtcatcgaaccctacat	11	7	10	13	2	2	1	2	1	0	0	3	2	2	1	2	3	3	1	2	3	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:223465979G>A	ENST00000343846.3	-	2	796	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q55*|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q55*			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	55	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCACACACTTGAAGGTCATCG	0.517													38	32					0	0	0	0	A	223465979	G	A	223465979	4	1	429	1	0	0	0	0	0	1	0	0	15500	1299	45	2	1490	2	SUSD4	1	223465979	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2601950	223465979	25784642	75	84342											
NUP133	55746	broad.mit.edu	37	chr1	229580736	229580736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattggatcatctttgccatCagaactggaccagctagaaa	14	10	8	9	0	3	2	2	0	1	2	3	4	3	4	2	2	3	1	2	2	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:229580736C>T	ENST00000261396.3	-	25	3350	c.3259G>A	c.(3259-3261)Gat>Aat	p.D1087N	NUP133_ENST00000537506.1_Missense_Mutation_p.D1071N|NUP133_ENST00000366679.1_Missense_Mutation_p.D1016N	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1087					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			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)				TCTTTGCCATCAGAACTGGAC	0.308													15	84					0	0	0	0	T	229580736	C	T	229580736	3	4	429	1	0	0	0	0	1	0	0	0	10825	826	29	2	219	2	NUP133	1	229580736	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6114757	229580736	19669885	76	84343											
PGBD5	79605	broad.mit.edu	37	chr1	230473020	230473020	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggcccccaccttccttCaggtggacataaatctttaa	9	12	7	13	0	3	0	1	0	2	0	4	1	4	1	4	3	0	0	4	3	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:230473020C>T	ENST00000321327.2	-	6	998	c.999G>A	c.(997-999)ctG>ctA	p.L333L	PGBD5_ENST00000525115.1_Silent_p.L234L|PGBD5_ENST00000391860.1_Silent_p.L188L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	234						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CACCTTCCTTCAGGTGGACAT	0.572													18	15					0	0	0	0	T	230473020	C	T	230473020	2	4	429	1	0	0	0	0	0	0	0	1	11856	813	29	2		2	PGBD5	1	230473020	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	892284	230473020	18777601	77	84344											
PGBD5	79605	broad.mit.edu	37	chr1	230492802	230492802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggctcatgacgagggcGaggctgcggttgctgtagaa	7	8	17	9	3	1	2	1	1	0	1	1	4	1	2	1	4	2	5	1	4	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:230492802G>A	ENST00000321327.2	-	4	686	c.687C>T	c.(685-687)ctC>ctT	p.L229L	PGBD5_ENST00000525115.1_Silent_p.L130L|PGBD5_ENST00000391860.1_Silent_p.L84L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	130						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGACGAGGGCGAGGCTGCGGT	0.612													33	39					0	0	0	0	A	230492802	G	A	230492802	2	1	429	1	0	0	0	0	0	0	0	1	11856	1045	37	1		1	PGBD5	1	230492802	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	19782	230492802	18757819	78	84345											
EXOC8	149371	broad.mit.edu	37	chr1	231472342	231472342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagctgtcgaactcgctcctCcactttggcccttagttctt	5	14	8	14	2	1	0	0	0	1	0	5	2	3	0	3	1	2	3	3	1	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:231472342C>G	ENST00000366645.1	-	1	1256	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	EXOC8_ENST00000360394.2_Missense_Mutation_p.E384Q			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	384					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ACTCGCTCCTCCACTTTGGCC	0.517													49	60					0	0	0	0	G	231472342	C	G	231472342	3	3	429	1	0	0	0	0	1	0	0	0	5348	864	30	2	1031	2	EXOC8	1	231472342	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	979540	231472342	17778279	79	84346											
DISC1	27185	broad.mit.edu	37	chr1	231830168	231830168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcgcttggctctgccgggGaacgtggagaagcagaaggc	8	7	16	10	3	2	2	0	0	2	2	3	4	2	3	1	5	3	3	1	5	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:231830168G>A	ENST00000439617.2	+	2	717	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	DISC1_ENST00000537876.1_Missense_Mutation_p.E222K|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.E222K|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000317586.4_Missense_Mutation_p.E222K|DISC1_ENST00000539444.1_Missense_Mutation_p.E222K|DISC1_ENST00000366633.3_Missense_Mutation_p.E222K|DISC1_ENST00000602281.1_Missense_Mutation_p.E222K|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.E222K	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	222	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTCTGCCGGGGAACGTGGAGA	0.627													25	53					0	0	0	0	A	231830168	G	A	231830168	3	1	429	1	0	0	0	0	1	0	0	0	4575	1175	41	2	670	2	DISC1	1	231830168	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	357826	231830168	17420453	80	84347											
AHCTF1	25909	broad.mit.edu	37	chr1	247040556	247040556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtaactcctctatattCaacctattgcaatgttgccg	10	15	5	11	1	3	0	2	0	1	0	4	0	4	0	3	0	4	3	3	0	6	8			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:247040556C>T	ENST00000366508.1	-	22	2950	c.2814G>A	c.(2812-2814)ttG>ttA	p.L938L	AHCTF1_ENST00000391829.2_Silent_p.L903L|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.L912L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	903	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCTCTATATTCAACCTATTGC	0.358													14	58					0	0	0	0	T	247040556	C	T	247040556	2	4	429	1	0	0	0	0	0	0	0	1	408	825	29	2		2	AHCTF1	1	247040556	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	15210388	247040556	2210065	81	84348											
OR2B11	127623	broad.mit.edu	37	chr1	247614691	247614691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagccagtatggtgtcattCacagcggtgtcagcacacga	11	8	11	11	2	3	0	3	0	0	0	3	1	3	0	1	2	3	2	1	2	1	2	rs141488287		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:247614691C>T	ENST00000318749.6	-	1	617	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	198			V -> M (in dbSNP:rs6695302).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGTGTCATTCACAGCGGTGT	0.572													17	45					0	0	0	0	T	247614691	C	T	247614691	2	4	429	1	0	0	0	0	0	0	0	1	11059	813	29	2		2	OR2B11	1	247614691	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	574135	247614691	1635930	82	84349											
OR2L13	284521	broad.mit.edu	37	chr1	248262790	248262790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcatattctttctggcctCggtgggtaactcggccatga	6	13	10	12	2	3	1	1	1	2	0	5	1	3	1	3	4	1	1	3	4	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:248262790C>T	ENST00000366478.2	+	3	450	c.113C>T	c.(112-114)tCg>tTg	p.S38L	OR2L13_ENST00000358120.2_Missense_Mutation_p.S38L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TTTCTGGCCTCGGTGGGTAAC	0.463													15	156					0	0	0	0	T	248262790	C	T	248262790	3	4	429	1	0	0	0	0	1	0	0	0	11077	893	31	1	115	1	OR2L13	1	248262790	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	648099	248262790	987831	83	84350											
OR2M5	127059	broad.mit.edu	37	chr1	248309008	248309008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcccttccctactaatcCtctcatgcaatgacacatca	11	12	2	16	0	2	1	2	1	1	0	6	1	5	1	3	0	2	1	3	0	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:248309008C>T	ENST00000366476.1	+	1	559	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCTACTAATCCTCTCATGCAA	0.413													13	389					0	0	0	0	T	248309008	C	T	248309008	3	4	429	1	0	0	0	0	1	0	0	0	11084	681	24	4	561	4	OR2M5	1	248309008	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	46218	248309008	941613	84	84351											
OR2M7	391196	broad.mit.edu	37	chr1	248487312	248487312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgtcattgcatgagaGgattagtagggaagggaagt	12	11	16	2	0	1	2	1	2	0	1	1	6	1	5	0	3	1	2	0	3	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:248487312G>A	ENST00000317965.2	-	1	587	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCATGAGAGGATTAGTAGG	0.423													126	173					0	0	0	0	A	248487312	G	A	248487312	3	1	429	1	0	0	0	0	1	0	0	0	11085	1000	35	4	382	4	OR2M7	1	248487312	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	178304	248487312	763309	85	84352											
KIDINS220	57498	broad.mit.edu	37	chr2	8919884	8919884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccagccttgtctgattctGagtgaagctgtcaatggttt	8	14	10	9	0	3	3	1	3	2	0	3	3	3	3	2	1	2	2	2	1	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:8919884G>C	ENST00000256707.3	-	18	2471	c.2290C>G	c.(2290-2292)Cag>Gag	p.Q764E	KIDINS220_ENST00000418530.1_Missense_Mutation_p.Q722E|KIDINS220_ENST00000319688.5_Missense_Mutation_p.Q765E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Q764E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Q764E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	764	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.Q764*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTGATTCTGAGTGAAGCTG	0.458													14	35					0	0	0	0	C	8919884	G	C	8919884	3	2	429	1	0	0	0	0	1	0	0	0	8322	1299	45	2	3077	2	KIDINS220	2	8919884	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		8919884	234279489	86	84353											
NBAS	51594	broad.mit.edu	37	chr2	15470866	15470866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaataggtcagctgaattGctacctggaacacctacttc	11	10	8	12	1	1	1	1	1	0	0	2	2	1	2	2	2	5	3	2	2	6	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:15470866G>A	ENST00000281513.5	-	36	4228	c.4203C>T	c.(4201-4203)agC>agT	p.S1401S	NBAS_ENST00000441750.1_Silent_p.S1281S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1401										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGCTGAATTGCTACCTGGAA	0.463													8	37					0	0	0	0	A	15470866	G	A	15470866	2	1	429	1	0	0	0	0	0	0	0	1	10256	1310	46	4		4	NBAS	2	15470866	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6550982	15470866	227728507	87	84354											
C2orf43	60526	broad.mit.edu	37	chr2	21001118	21001118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttgacactttgatcatGaaagaggtctgtccagggcc	9	12	10	10	0	2	4	1	3	1	1	3	4	3	4	3	2	0	0	3	2	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:21001118G>C	ENST00000237822.3	-	2	185	c.106C>G	c.(106-108)Cat>Gat	p.H36D	C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.H36D|C2orf43_ENST00000440866.2_Missense_Mutation_p.H36D|C2orf43_ENST00000419825.2_Missense_Mutation_p.H36D|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.H36D	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	36										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGATCATGAAAGAGGTCT	0.428													23	39					0	0	0	0	C	21001118	G	C	21001118	3	2	429	1	0	0	0	0	1	0	0	0	2187	1290	45	2	895	2	C2orf43	2	21001118	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5530252	21001118	222198255	88	84355											
APOB	338	broad.mit.edu	37	chr2	21232479	21232479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatttctttatcaacatgtCaaggaatttgttaacatctt	13	18	4	6	0	4	0	2	0	2	0	4	1	4	1	0	1	2	1	0	1	6	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:21232479C>G	ENST00000233242.1	-	26	7388	c.7261G>C	c.(7261-7263)Gac>Cac	p.D2421H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2421					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAACATGTCAAGGAATTTG	0.313													10	32					0	0	0	0	G	21232479	C	G	21232479	3	3	429	1	0	0	0	0	1	0	0	0	787	826	29	2	6446	2	APOB	2	21232479	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	231361	21232479	221966894	89	84356											
IFT172	26160	broad.mit.edu	37	chr2	27680779	27680779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccaggcggatcatgtcatCatacaacttgtgctttttgt	9	15	8	9	1	3	0	3	0	0	0	3	1	3	1	1	2	4	1	1	2	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:27680779C>G	ENST00000260570.3	-	28	3143	c.3040G>C	c.(3040-3042)Gat>Cat	p.D1014H		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1014					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATCATGTCATCATACAACTTG	0.512													23	49					0	0	0	0	G	27680779	C	G	27680779	3	3	429	1	0	0	0	0	1	0	0	0	7610	826	29	2	2293	2	IFT172	2	27680779	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6448300	27680779	215518594	90	84357											
CLIP4	79745	broad.mit.edu	37	chr2	29366599	29366599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaggacagatccctgctGatgttgttccagacccagta	12	9	9	11	0	0	3	0	1	0	2	2	4	2	4	3	1	1	4	3	1	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:29366599G>A	ENST00000320081.5	+	7	928	c.673G>A	c.(673-675)Gat>Aat	p.D225N	CLIP4_ENST00000404424.1_Missense_Mutation_p.D225N|CLIP4_ENST00000401605.1_Missense_Mutation_p.D225N|CLIP4_ENST00000401617.2_Missense_Mutation_p.D118N	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	225										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GATCCCTGCTGATGTTGTTCC	0.423													23	56					0	0	0	0	A	29366599	G	A	29366599	3	1	429	1	0	0	0	0	1	0	0	0	3565	1290	45	2	695	2	CLIP4	2	29366599	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1685820	29366599	213832774	91	84358											
DHX57	90957	broad.mit.edu	37	chr2	39070334	39070334	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atggaccgcatatatgggctCccatcctgtaatacatacct	11	11	7	12	1	0	0	0	0	0	0	2	1	2	1	4	2	2	3	4	2	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:39070334C>G	ENST00000295373.6	-	12	2364	c.2238G>C	c.(2236-2238)ggG>ggC	p.G746G		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	746							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TATATGGGCTCCCATCCTGTA	0.448													19	29					0	0	0	0	G	39070334	C	G	39070334	2	3	429	1	0	0	0	0	0	0	0	1	4550	842	30	2		2	DHX57	2	39070334	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	9703735	39070334	204129039	92	84359											
COX7A2L	9167	broad.mit.edu	37	chr2	42580375	42580375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaaaacttttgtagctctgGaactttgtttttcccagcat	10	16	7	8	0	1	0	0	0	1	0	2	2	2	1	1	1	4	4	1	1	4	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:42580375G>C	ENST00000378669.1	-	3	1010	c.181C>G	c.(181-183)Cca>Gca	p.P61A	COX7A2L_ENST00000463055.1_Missense_Mutation_p.P61A|COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Missense_Mutation_p.P61A			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	61					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						TGTAGCTCTGGAACTTTGTTT	0.393													13	44					0	0	0	0	C	42580375	G	C	42580375	3	2	429	1	0	0	0	0	1	0	0	0	3811	1174	41	2	171	2	COX7A2L	2	42580375	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3510041	42580375	200618998	93	84360											
PREPL	9581	broad.mit.edu	37	chr2	44586819	44586819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgaggaatactatacttCaaagcttggagaaataattt	16	12	9	4	0	1	2	1	1	0	1	1	4	1	3	0	3	3	1	0	3	7	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:44586819C>T	ENST00000409936.1	-	2	473	c.36G>A	c.(34-36)ttG>ttA	p.L12L	PREPL_ENST00000409272.1_Silent_p.L12L|PREPL_ENST00000410081.1_Silent_p.L12L|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000260648.6_Silent_p.L12L|PREPL_ENST00000378520.3_Silent_p.L12L|PREPL_ENST00000378511.3_Silent_p.L12L|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000541738.1_Intron	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	12					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TACTATACTTCAAAGCTTGGA	0.358													20	54					0	0	0	0	T	44586819	C	T	44586819	2	4	429	1	0	0	0	0	0	0	0	1	12555	825	29	2		2	PREPL	2	44586819	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2006444	44586819	198612554	94	84361											
SRBD1	55133	broad.mit.edu	37	chr2	45801848	45801848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctatttcaatatcctGaagcgttgaaagccctttag	11	13	6	11	1	1	2	1	2	0	0	3	2	3	2	3	0	2	1	3	0	6	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:45801848G>T	ENST00000263736.4	-	8	1149	c.1087C>A	c.(1087-1089)Cag>Aag	p.Q363K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	363					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			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)			TCAATATCCTGAAGCGTTGAA	0.323													10	88					1.08611e-07	1.10983e-07	1	0	T	45801848	G	T	45801848	3	4	429	1	0	0	0	0	1	0	0	0	15223	1299	45	2	1956	2	SRBD1	2	45801848	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1215029	45801848	197397525	95	84362											
EPCAM	4072	broad.mit.edu	37	chr2	47600696	47600696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggtgcacaaaatactgtCatttgctcaaagcgtgagta	12	12	10	7	1	2	1	2	1	0	0	2	1	2	1	0	1	4	4	0	1	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:47600696C>T	ENST00000263735.4	+	2	529	c.171C>T	c.(169-171)gtC>gtT	p.V57V	EPCAM_ENST00000405271.1_Silent_p.V85V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	57					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						AAAATACTGTCATTTGCTCAA	0.348													6	17					0	0	0	0	T	47600696	C	T	47600696	2	4	429	1	0	0	0	0	0	0	0	1	5200	813	29	2		2	EPCAM	2	47600696	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1798848	47600696	195598677	96	84363											
KIAA1841	84542	broad.mit.edu	37	chr2	61304130	61304130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgcccgcgagatcttttGatatcagaaatgaagtactt	12	13	8	8	2	2	4	1	2	1	2	2	5	2	4	1	0	2	1	1	0	4	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:61304130G>C	ENST00000402291.1	+	6	748	c.507G>C	c.(505-507)ttG>ttC	p.L169F	KIAA1841_ENST00000356719.2_Missense_Mutation_p.L169F|KIAA1841_ENST00000295031.5_Missense_Mutation_p.L169F|KIAA1841_ENST00000453873.1_Missense_Mutation_p.L169F|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	169										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAGATCTTTTGATATCAGAAA	0.378													18	55					0	0	0	0	C	61304130	G	C	61304130	3	2	429	1	0	0	0	0	1	0	0	0	8312	1281	45	2	521	2	KIAA1841	2	61304130	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	13703434	61304130	181895243	97	84364											
SERTAD2	9792	broad.mit.edu	37	chr2	64863474	64863474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtagatgtgggacagagctCctcgatctcgtccaaggcag	9	8	14	10	2	1	2	0	0	1	2	5	4	3	3	2	3	1	3	2	3	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:64863474C>T	ENST00000313349.3	-	2	829	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	178					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GGACAGAGCTCCTCGATCTCG	0.617													20	51					0	0	0	0	T	64863474	C	T	64863474	3	4	429	1	0	0	0	0	1	0	0	0	14208	864	30	2	416	2	SERTAD2	2	64863474	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3559344	64863474	178335899	98	84365											
DYSF	8291	broad.mit.edu	37	chr2	71894634	71894634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctacagccccctgcagccaGacatcgagcaggtaggacct	10	6	10	15	1	1	1	0	0	1	1	2	3	1	2	4	2	5	3	4	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:71894634G>A	ENST00000258104.3	+	47	5606	c.5329G>A	c.(5329-5331)Gac>Aac	p.D1777N	DYSF_ENST00000410020.3_Missense_Mutation_p.D1816N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1795N|DYSF_ENST00000409366.1_Missense_Mutation_p.D1799N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1778N|DYSF_ENST00000429174.2_Missense_Mutation_p.D1798N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1785N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1815N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1794N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1809N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.D1808N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1777						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTGCAGCCAGACATCGAGCA	0.637													15	39					0	0	0	0	A	71894634	G	A	71894634	3	1	429	1	0	0	0	0	1	0	0	0	4895	942	33	2	5774	2	DYSF	2	71894634	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7031160	71894634	171304739	99	84366											
WDR54	84058	broad.mit.edu	37	chr2	74649312	74649312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgctccattcccctgcGaggctcggccgccgccctgt	3	7	13	18	5	0	0	0	0	0	0	3	2	2	1	6	3	2	2	6	3	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:74649312G>T	ENST00000348227.4	+	2	120	c.32G>T	c.(31-33)cGa>cTa	p.R11L	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	11										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ATTCCCCTGCGAGGCTCGGCC	0.652													21	54					1.96292e-10	2.02503e-10	1	0	T	74649312	G	T	74649312	3	4	429	1	0	0	0	0	1	0	0	0	17402	1058	37	3	34	3	WDR54	2	74649312	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2754678	74649312	168550061	100	84367											
POLR1A	25885	broad.mit.edu	37	chr2	86276114	86276114	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgccattttcctcGgacctcatcatatgatgcgg	7	12	9	13	2	2	1	2	1	0	0	5	2	4	2	4	3	2	1	4	3	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:86276114G>A	ENST00000263857.6	-	18	2905	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.R843*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	843					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CATTTTCCTCGGACCTCATCA	0.493													19	31					0	0	0	0	A	86276114	G	A	86276114	4	1	429	1	0	0	0	0	0	1	0	0	12281	1124	39	1	2703	1	POLR1A	2	86276114	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11626802	86276114	156923259	101	84368											
IMMT	10989	broad.mit.edu	37	chr2	86373214	86373214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagcctgttcgattcctCtgagtctggcataggcagta	9	11	11	10	1	2	1	0	1	2	0	4	3	3	1	2	2	2	4	2	2	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:86373214C>T	ENST00000410111.3	-	14	2027	c.1640G>A	c.(1639-1641)aGa>aAa	p.R547K	IMMT_ENST00000409051.2_Missense_Mutation_p.R500K|IMMT_ENST00000254636.5_Missense_Mutation_p.R448K|IMMT_ENST00000449247.2_Missense_Mutation_p.R536K|IMMT_ENST00000442664.2_Missense_Mutation_p.R546K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	547						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCGATTCCTCTGAGTCTGGC	0.353													10	7					0	0	0	0	T	86373214	C	T	86373214	3	4	429	1	0	0	0	0	1	0	0	0	7771	913	32	2	644	2	IMMT	2	86373214	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	97100	86373214	156826159	102	84369											
REEP1	65055	broad.mit.edu	37	chr2	86444187	86444187	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttcggtggccgaggatGaggtacttttcttcctgaag	6	14	14	7	2	1	2	0	2	1	0	3	4	2	3	2	5	1	2	2	5	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:86444187G>C	ENST00000541910.1	-	5	550	c.407C>G	c.(406-408)tCa>tGa	p.S136*	REEP1_ENST00000165698.5_3'UTR|REEP1_ENST00000540790.1_3'UTR|REEP1_ENST00000538924.1_3'UTR|REEP1_ENST00000535845.1_3'UTR	NM_001164732.1	NP_001158204.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	0					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGCCGAGGATGAGGTACTTTT	0.468													9	48					0	0	0	0	C	86444187	G	C	86444187	4	2	429	1	0	0	0	0	0	1	0	0	13286	1294	45	2	28	2	REEP1	2	86444187	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	70973	86444187	156755186	103	84370											
CNNM4	26504	broad.mit.edu	37	chr2	97427042	97427042	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggacgatgccgagaccctCcacaagtccaccagctgcct	9	6	10	16	2	0	1	0	0	0	1	2	4	2	2	6	1	3	1	6	1	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:97427042C>G	ENST00000377075.2	+	1	404	c.306C>G	c.(304-306)ctC>ctG	p.L102L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	102					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCGAGACCCTCCACAAGTCCA	0.637													15	44					0	0	0	0	G	97427042	C	G	97427042	2	3	429	1	0	0	0	0	0	0	0	1	3645	842	30	2		2	CNNM4	2	97427042	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	10982855	97427042	145772331	104	84371											
CHST10	9486	broad.mit.edu	37	chr2	101011994	101011994	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgaatttctgcatcactGaaggaagagagccgaggaag	13	9	12	7	1	3	3	1	2	2	1	3	7	3	5	1	2	2	1	1	2	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:101011994G>A	ENST00000264249.3	-	6	895	c.510C>T	c.(508-510)ttC>ttT	p.F170F	CHST10_ENST00000542617.1_Silent_p.F218F|CHST10_ENST00000409701.1_Silent_p.F170F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	170					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTGCATCACTGAAGGAAGAGA	0.502													17	51					0	0	0	0	A	101011994	G	A	101011994	2	1	429	1	0	0	0	0	0	0	0	1	3427	1281	45	2		2	CHST10	2	101011994	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3584952	101011994	142187379	105	84372											
DPP10	57628	broad.mit.edu	37	chr2	116497356	116497356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcccactggtggtcaccaGatggagaaagacttgccttc	9	9	11	12	1	1	3	1	0	0	3	3	4	1	3	3	3	1	0	3	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:116497356G>A	ENST00000410059.1	+	9	1219	c.739G>A	c.(739-741)Gat>Aat	p.D247N	DPP10_ENST00000310323.8_Missense_Mutation_p.D240N|DPP10_ENST00000409163.1_Missense_Mutation_p.D197N|DPP10_ENST00000393147.2_Missense_Mutation_p.D251N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	247					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTGGTCACCAGATGGAGAAAG	0.468													26	74					0	0	0	0	A	116497356	G	A	116497356	3	1	429	1	0	0	0	0	1	0	0	0	4763	942	33	2	944	2	DPP10	2	116497356	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	15485362	116497356	126702017	106	84373											
LRP1B	53353	broad.mit.edu	37	chr2	141607782	141607782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcatcgaagtctatcaCagtaacgtcatcaatatcag	15	10	7	9	2	5	1	4	0	1	1	6	2	5	1	0	0	2	2	0	0	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:141607782C>T	ENST00000389484.3	-	29	5799	c.4828G>A	c.(4828-4830)Gtg>Atg	p.V1610M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1610					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTCTATCACAGTAACGTCA	0.373										TSP Lung(27;0.18)			10	37					0	0	0	0	T	141607782	C	T	141607782	3	4	429	1	0	0	0	0	1	0	0	0	9019	478	17	4	9223	4	LRP1B	2	141607782	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	25110426	141607782	101591591	107	84374											
LRP1B	53353	broad.mit.edu	37	chr2	141773268	141773268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcatttgtcttttaccttCctgtgagtcccattcaaaaa	10	15	5	11	0	2	1	1	1	1	0	4	1	4	1	3	0	2	1	3	0	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:141773268C>T	ENST00000389484.3	-	13	3158	c.2187G>A	c.(2185-2187)agG>agA	p.R729R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	729					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTACCTTCCTGTGAGTCC	0.358										TSP Lung(27;0.18)			7	14					0	0	0	0	T	141773268	C	T	141773268	2	4	429	1	0	0	0	0	0	0	0	1	9019	854	30	2		2	LRP1B	2	141773268	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	165486	141773268	101426105	108	84375											
RIF1	55183	broad.mit.edu	37	chr2	152318760	152318760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatagtttttttcaggtgtGatattcctgccatgtataat	10	19	7	5	0	1	1	1	1	0	0	2	1	2	1	2	1	1	2	2	1	5	9			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:152318760G>C	ENST00000243326.4	+	27	3715	c.3232G>C	c.(3232-3234)Gat>Cat	p.D1078H	RIF1_ENST00000428287.2_Missense_Mutation_p.D1078H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1078H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1078H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1078H			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1078					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTTCAGGTGTGATATTCCTGC	0.358													9	17					0	0	0	0	C	152318760	G	C	152318760	3	2	429	1	0	0	0	0	1	0	0	0	13442	1290	45	2	3338	2	RIF1	2	152318760	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10545492	152318760	90880613	109	84376											
LY75	4065	broad.mit.edu	37	chr2	160710889	160710889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatttgctattttgtttttGatggcttttagtcccacaaa	9	19	6	7	0	0	1	0	1	0	0	1	1	1	1	1	1	1	3	1	1	3	8			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:160710889G>C	ENST00000263636.4	-	18	2604	c.2577C>G	c.(2575-2577)atC>atG	p.I859M	LY75_ENST00000554112.1_Missense_Mutation_p.I859M|LY75_ENST00000553424.1_Missense_Mutation_p.I859M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.I859M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.I859M	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTTGTTTTTGATGGCTTTTA	0.279													15	39					0	0	0	0	C	160710889	G	C	160710889	3	2	429	1	0	0	0	0	1	0	0	0	9164	1280	45	2	2663	2	LY75	2	160710889	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	8392129	160710889	82488484	110	84377											
ITGB6	3694	broad.mit.edu	37	chr2	161025725	161025725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagttatttttgcttacctCatataaatgaacttgttctt	11	19	4	7	0	2	1	1	1	1	0	2	1	2	1	1	0	3	3	1	0	7	9			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:161025725C>T	ENST00000283249.2	-	7	1252	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	ITGB6_ENST00000409967.2_Missense_Mutation_p.E339K|ITGB6_ENST00000428609.2_Missense_Mutation_p.E297K|ITGB6_ENST00000409872.1_Missense_Mutation_p.E339K|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	339	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTGCTTACCTCATATAAATGA	0.338													10	32					0	0	0	0	T	161025725	C	T	161025725	3	4	429	1	0	0	0	0	1	0	0	0	7952	835	29	2	1387	2	ITGB6	2	161025725	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	314836	161025725	82173648	111	84378											
CSRNP3	80034	broad.mit.edu	37	chr2	166535844	166535844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagccacattccaggaactCcaaatcagatctctgagaac	15	8	6	12	0	2	2	1	1	1	2	5	4	4	3	3	1	3	0	3	1	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:166535844C>T	ENST00000314499.7	+	7	1715	c.1339C>T	c.(1339-1341)Cca>Tca	p.P447S	CSRNP3_ENST00000409420.1_Missense_Mutation_p.P479S|CSRNP3_ENST00000342316.4_Missense_Mutation_p.P447S	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	447					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TCCAGGAACTCCAAATCAGAT	0.443													23	43					0	0	0	0	T	166535844	C	T	166535844	3	4	429	1	0	0	0	0	1	0	0	0	3997	855	30	2	1353	2	CSRNP3	2	166535844	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5510119	166535844	76663529	112	84379											
G6PC2	57818	broad.mit.edu	37	chr2	169758992	169758992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccttactggtgggtccaaGaaactcagatttacccaaat	13	10	8	10	0	1	2	1	0	0	2	2	3	2	2	3	2	3	0	3	2	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:169758992G>C	ENST00000375363.3	+	2	348	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	G6PC2_ENST00000429379.2_Missense_Mutation_p.E86Q|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	86					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GTGGGTCCAAGAAACTCAGAT	0.368													7	47					0	0	0	0	C	169758992	G	C	169758992	3	2	429	1	0	0	0	0	1	0	0	0	6192	943	33	2	262	2	G6PC2	2	169758992	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3223148	169758992	73440381	113	84380											
TTN	7273	broad.mit.edu	37	chr2	179414167	179414167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgcctgttatgttgCtaggttctggaatgccaggg	5	15	14	7	0	1	0	0	0	1	0	1	1	1	1	2	3	4	6	2	3	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179414167C>T	ENST00000589042.1	-	339	92410	c.92186G>A	c.(92185-92187)aGc>aAc	p.S30729N	TTN_ENST00000460472.2_Missense_Mutation_p.S21664N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28161N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21789N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29088N|TTN_ENST00000342175.6_Missense_Mutation_p.S21856N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29088	Ig-like 138.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTATGTTGCTAGGTTCTGG	0.408													6	47					0	0	0	0	T	179414167	C	T	179414167	3	4	429	1	0	0	0	0	1	0	0	0	16831	797	28	4	15889	4	TTN	2	179414167	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	9655175	179414167	63785206	114	84381											
TTN	7273	broad.mit.edu	37	chr2	179416576	179416576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaacttctgaaccaccatCataaactggagcatcccaag	15	8	6	12	0	2	1	1	1	1	0	3	2	3	2	3	1	4	2	3	1	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179416576C>T	ENST00000589042.1	-	335	91275	c.91051G>A	c.(91051-91053)Gat>Aat	p.D30351N	TTN_ENST00000460472.2_Missense_Mutation_p.D21286N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27783N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21411N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28710N|TTN_ENST00000342175.6_Missense_Mutation_p.D21478N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28710	Fibronectin type-III 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACCACCATCATAAACTGGA	0.413													47	110					0	0	0	0	T	179416576	C	T	179416576	3	4	429	1	0	0	0	0	1	0	0	0	16831	826	29	2	17040	2	TTN	2	179416576	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2409	179416576	63782797	115	84382											
TTN	7273	broad.mit.edu	37	chr2	179437484	179437484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccgggcccacttcacctCaggtgcaggccttcctttga	5	10	10	16	1	2	1	2	1	0	0	4	1	4	1	5	3	1	1	5	3	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179437484C>T	ENST00000589042.1	-	326	73599	c.73375G>A	c.(73375-73377)Gag>Aag	p.E24459K	TTN_ENST00000460472.2_Missense_Mutation_p.E15394K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21891K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15519K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22818K|TTN_ENST00000342175.6_Missense_Mutation_p.E15586K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22818	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTCACCTCAGGTGCAGGC	0.468													21	56					0	0	0	0	T	179437484	C	T	179437484	3	4	429	1	0	0	0	0	1	0	0	0	16831	835	29	2	34752	2	TTN	2	179437484	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	20908	179437484	63761889	116	84383											
TTN	7273	broad.mit.edu	37	chr2	179466637	179466637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcgggtatgtcatgaactCcatcctattagaaaaggaga	13	11	9	8	1	1	3	1	1	0	2	4	4	3	3	2	2	1	1	2	2	6	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179466637C>G	ENST00000589042.1	-	285	55498	c.55274G>C	c.(55273-55275)gGa>gCa	p.G18425A	TTN_ENST00000460472.2_Missense_Mutation_p.G9360A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15857A|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9485A|TTN_ENST00000591111.1_Missense_Mutation_p.G16784A|TTN_ENST00000342175.6_Missense_Mutation_p.G9552A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16784	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G15857E(2)|p.G9360E(1)|p.G9552E(1)|p.G9485E(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)			GTCATGAACTCCATCCTATTA	0.313													18	45					0	0	0	0	G	179466637	C	G	179466637	3	3	429	1	0	0	0	0	1	0	0	0	16831	855	30	2	52731	2	TTN	2	179466637	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	29153	179466637	63732736	117	84384											
TTN	7273	broad.mit.edu	37	chr2	179615718	179615718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctcattcttatttcagtCtggaaaatttcttcatcaac	10	17	5	9	0	7	0	4	0	3	0	7	1	7	1	0	2	1	1	0	2	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179615718C>T	ENST00000360870.5	-	46	11631	c.11409G>A	c.(11407-11409)caG>caA	p.Q3803Q	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9640							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTTCAGTCTGGAAAATTT	0.348													30	72					0	0	0	0	T	179615718	C	T	179615718	2	4	429	1	0	0	0	0	0	0	0	1	16831	912	32	2		2	TTN	2	179615718	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	149081	179615718	63583655	118	84385											
ZNF385B	151126	broad.mit.edu	37	chr2	180634461	180634461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttttcttcaaagccccGtagaaaatttgccatattca	11	13	4	13	1	3	1	2	0	1	1	3	1	3	1	5	0	2	1	5	0	5	7	rs146268620		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:180634461G>A	ENST00000410066.1	-	3	625	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	8						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAAAGCCCCGTAGAAAATTT	0.413													17	54					0	0	0	0	A	180634461	G	A	180634461	3	1	429	1	0	0	0	0	1	0	0	0	17972	1144	40	1	1454	1	ZNF385B	2	180634461	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1018743	180634461	62564912	119	84386											
SSFA2	6744	broad.mit.edu	37	chr2	182781036	182781036	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctttcgggtgtccttactCacatagacatgccacctacc	8	11	6	16	1	1	1	1	0	0	1	3	1	2	1	5	1	3	0	5	1	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:182781036C>G	ENST00000431877.2	+	11	2848	c.2669C>G	c.(2668-2670)tCa>tGa	p.S890*	SSFA2_ENST00000320370.7_Nonsense_Mutation_p.S890*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.S890*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.S399*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.S737*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	890						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGTCCTTACTCACATAGACAT	0.483													8	99					0	0	0	0	G	182781036	C	G	182781036	4	3	429	1	0	0	0	0	0	1	0	0	15273	838	29	2	2711	2	SSFA2	2	182781036	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2146575	182781036	60418337	120	84387											
COL3A1	1281	broad.mit.edu	37	chr2	189870942	189870942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttaatcagggaaaccctgGatcagatggtcttccaggcc	10	11	10	10	0	3	1	2	0	1	1	4	3	4	3	3	4	1	0	3	4	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:189870942G>C	ENST00000304636.3	+	42	3220	c.3050G>C	c.(3049-3051)gGa>gCa	p.G1017A	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1017	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAAACCCTGGATCAGATGGT	0.373													14	24					0	0	0	0	C	189870942	G	C	189870942	3	2	429	1	0	0	0	0	1	0	0	0	3718	1174	41	2	3216	2	COL3A1	2	189870942	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7089906	189870942	53328431	121	84388											
OSGEPL1	64172	broad.mit.edu	37	chr2	190618673	190618673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattttgaggtaacaagtctCtctgcttacaaaacagaata	15	13	6	7	0	2	2	0	1	2	1	3	2	2	2	0	1	4	2	0	1	8	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:190618673C>G	ENST00000519810.1	-	6	1274	c.932G>C	c.(931-933)aGa>aCa	p.R311T	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.R311T|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.R311T			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	311					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TAACAAGTCTCTCTGCTTACA	0.378													8	28					0	0	0	0	G	190618673	C	G	190618673	3	3	429	1	0	0	0	0	1	0	0	0	11359	913	32	2	328	2	OSGEPL1	2	190618673	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	747731	190618673	52580700	122	84389											
OSGEPL1	64172	broad.mit.edu	37	chr2	190618706	190618706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaatagcccgatgtgttCttttcacaagatgacatgcc	12	11	8	10	1	2	3	1	1	1	2	2	4	2	3	2	0	2	1	2	0	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:190618706C>G	ENST00000519810.1	-	6	1241	c.899G>C	c.(898-900)aGa>aCa	p.R300T	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.R300T|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.R300T			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	300					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CCGATGTGTTCTTTTCACAAG	0.403													9	21					0	0	0	0	G	190618706	C	G	190618706	3	3	429	1	0	0	0	0	1	0	0	0	11359	913	32	2	361	2	OSGEPL1	2	190618706	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	33	190618706	52580667	123	84390											
MYO1B	4430	broad.mit.edu	37	chr2	192160862	192160862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattggaagtgtggttatatCtgttaacccataccggtctt	9	15	9	8	1	2	0	0	0	2	0	2	1	2	1	2	3	2	2	2	3	5	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:192160862C>T	ENST00000392318.3	+	3	408	c.161C>T	c.(160-162)tCt>tTt	p.S54F	MYO1B_ENST00000339514.4_Missense_Mutation_p.S54F|MYO1B_ENST00000392316.1_Missense_Mutation_p.S54F|MYO1B_ENST00000304164.4_Missense_Mutation_p.S54F	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	54	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTGGTTATATCTGTTAACCCA	0.358													9	19					0	0	0	0	T	192160862	C	T	192160862	3	4	429	1	0	0	0	0	1	0	0	0	10139	913	32	2	167	2	MYO1B	2	192160862	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1542156	192160862	51038511	124	84391											
DNAH7	56171	broad.mit.edu	37	chr2	196741391	196741391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaattagcagaggtttgtaGatttccttatttagttgatt	10	20	8	3	0	0	3	0	1	0	2	1	3	1	3	1	1	1	4	1	1	5	10			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:196741391G>C	ENST00000312428.6	-	37	6094	c.5994C>G	c.(5992-5994)atC>atG	p.I1998M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1998	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGGTTTGTAGATTTCCTTAT	0.294													14	33					0	0	0	0	C	196741391	G	C	196741391	3	2	429	1	0	0	0	0	1	0	0	0	4642	932	33	2	6196	2	DNAH7	2	196741391	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4580529	196741391	46457982	125	84392											
SF3B1	23451	broad.mit.edu	37	chr2	198267337	198267337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagatggcacagcccataaGaatagctatctgttgtacaa	15	9	8	9	0	1	2	0	0	1	2	1	2	1	2	1	1	3	4	1	1	7	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:198267337G>A	ENST00000335508.5	-	14	2111	c.2020C>T	c.(2020-2022)Ctt>Ttt	p.L674F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	674					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGCCCATAAGAATAGCTATC	0.363			Mis		myelodysplastic syndrome								13	35					0	0	0	0	A	198267337	G	A	198267337	3	1	429	1	0	0	0	0	1	0	0	0	14236	942	33	2	1942	2	SF3B1	2	198267337	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1525946	198267337	44932036	126	84393											
SF3B1	23451	broad.mit.edu	37	chr2	198288627	198288627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcataataacctgtagaatCgaggcccactccttgagctt	11	11	8	11	1	1	2	1	1	0	1	3	3	2	2	3	1	2	2	3	1	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:198288627C>G	ENST00000335508.5	-	2	191	c.100G>C	c.(100-102)Gat>Cat	p.D34H	SF3B1_ENST00000487698.1_Missense_Mutation_p.D34H|SF3B1_ENST00000409915.4_Missense_Mutation_p.D34H|SF3B1_ENST00000414963.2_Missense_Mutation_p.D34H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	34					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTGTAGAATCGAGGCCCACT	0.398			Mis		myelodysplastic syndrome								10	28					0	0	0	0	G	198288627	C	G	198288627	3	3	429	1	0	0	0	0	1	0	0	0	14236	884	31	3	3934	3	SF3B1	2	198288627	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	21290	198288627	44910746	127	84394											
ALS2	57679	broad.mit.edu	37	chr2	202622442	202622442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgaggtgcttgtggtaGgcgggctgtggagattagga	6	10	21	4	1	0	2	0	1	0	1	0	4	0	3	0	7	1	4	0	7	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:202622442G>A	ENST00000264276.6	-	5	1526	c.1154C>T	c.(1153-1155)cCt>cTt	p.P385L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	385					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GCTTGTGGTAGGCGGGCTGTG	0.428													13	42					0	0	0	0	A	202622442	G	A	202622442	3	1	429	1	0	0	0	0	1	0	0	0	550	1000	35	4	3939	4	ALS2	2	202622442	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4333815	202622442	40576931	128	84395											
PARD3B	117583	broad.mit.edu	37	chr2	206166502	206166502	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcctttgtctgtactcaGaaaaaagcgcacgcttttcc	10	12	6	13	2	2	1	1	0	1	1	4	1	4	1	2	0	2	3	2	0	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:206166502G>C	ENST00000462231.1	+	19	2839		c.e19-1		PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000406610.2_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTGTACTCAGAAAAAAGCGC	0.488													13	27					0	0	0	0	C	206166502	G	C	206166502	5	2	429	1	0	0	0	0	0	0	1	0	11515	957	33	2		2	PARD3B	2	206166502	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3544060	206166502	37032871	129	84396											
GPR1	2825	broad.mit.edu	37	chr2	207041356	207041356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataaatttcacccaagtcaGaacatggtgcctgatcaaag	15	9	8	9	0	3	2	3	1	0	1	3	3	3	2	2	1	2	0	2	1	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:207041356G>C	ENST00000407325.2	-	3	978	c.616C>G	c.(616-618)Ctg>Gtg	p.L206V	GPR1_ENST00000437420.1_Missense_Mutation_p.L206V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	206						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ACCCAAGTCAGAACATGGTGC	0.413													24	52					0	0	0	0	C	207041356	G	C	207041356	3	2	429	1	0	0	0	0	1	0	0	0	6670	933	33	2	455	2	GPR1	2	207041356	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	874854	207041356	36158017	130	84397											
TNS1	7145	broad.mit.edu	37	chr2	218699846	218699846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgggctgctcggggaggttCcctccatctcctcgaaggcc	4	9	14	14	2	1	0	0	0	1	0	6	2	3	1	4	5	1	3	4	5	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:218699846C>T	ENST00000171887.4	-	19	3325	c.2873G>A	c.(2872-2874)gGa>gAa	p.G958E	TNS1_ENST00000430930.1_Missense_Mutation_p.G958E|TNS1_ENST00000419504.1_Missense_Mutation_p.G958E	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	958						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CGGGGAGGTTCCCTCCATCTC	0.582													15	31					0	0	0	0	T	218699846	C	T	218699846	3	4	429	1	0	0	0	0	1	0	0	0	16437	855	30	2	2394	2	TNS1	2	218699846	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	11658490	218699846	24499527	131	84398											
SLC11A1	6556	broad.mit.edu	37	chr2	219249962	219249962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaggcaaggacttgggCgaggtctgccatctctacta	9	9	13	10	1	2	1	0	1	2	0	3	3	2	2	1	4	2	1	1	4	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:219249962C>T	ENST00000233202.6	+	4	706	c.366C>T	c.(364-366)ggC>ggT	p.G122G	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	122					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGACTTGGGCGAGGTCTGCC	0.612													34	89					0	0	0	0	T	219249962	C	T	219249962	2	4	429	1	0	0	0	0	0	0	0	1	14468	755	27	1		1	SLC11A1	2	219249962	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	550116	219249962	23949411	132	84399											
OBSL1	23363	broad.mit.edu	37	chr2	220432151	220432151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcactgaatccagtcttCagagcccacttcctgccgct	9	9	8	15	1	2	2	1	1	1	1	4	3	4	2	4	0	3	2	4	0	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:220432151C>T	ENST00000404537.1	-	4	1737	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	OBSL1_ENST00000373873.4_Missense_Mutation_p.E561K|OBSL1_ENST00000265318.4_Missense_Mutation_p.E561K|OBSL1_ENST00000603926.1_Missense_Mutation_p.E561K|OBSL1_ENST00000289656.3_Missense_Mutation_p.E148K|OBSL1_ENST00000373876.1_Missense_Mutation_p.E561K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	561	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ATCCAGTCTTCAGAGCCCACT	0.627													4	6					0	0	0	0	T	220432151	C	T	220432151	3	4	429	1	0	0	0	0	1	0	0	0	10884	835	29	2	4233	2	OBSL1	2	220432151	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1182189	220432151	22767222	133	84400											
SLC4A3	6508	broad.mit.edu	37	chr2	220500450	220500450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagatgaccccttgctGcggacgggctcggtatttgg	6	10	14	11	3	0	3	0	2	0	1	1	4	0	4	3	4	2	3	3	4	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:220500450G>A	ENST00000358055.3	+	14	2540	c.2028G>A	c.(2026-2028)ctG>ctA	p.L676L	SLC4A3_ENST00000373760.2_Silent_p.L676L|SLC4A3_ENST00000273063.6_Silent_p.L703L|SLC4A3_ENST00000317151.3_Silent_p.L676L|SLC4A3_ENST00000373762.3_Silent_p.L703L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	676					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCTTGCTGCGGACGGGCT	0.642													5	12					0	0	0	0	A	220500450	G	A	220500450	2	1	429	1	0	0	0	0	0	0	0	1	14743	1306	46	4		4	SLC4A3	2	220500450	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	68299	220500450	22698923	134	84401											
COL4A3	1285	broad.mit.edu	37	chr2	228131711	228131711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatgctctcattgcaggaGaaccaggcctcctgtgtaca	10	10	10	11	0	1	1	1	0	1	1	3	2	2	1	3	2	4	4	3	2	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:228131711G>A	ENST00000396578.3	+	23	1573	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	471	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CATTGCAGGAGAACCAGGCCT	0.433													8	23					0	0	0	0	A	228131711	G	A	228131711	3	1	429	1	0	0	0	0	1	0	0	0	3721	943	33	2	1501	2	COL4A3	2	228131711	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7631261	228131711	15067662	135	84402											
SPHKAP	80309	broad.mit.edu	37	chr2	228884456	228884456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcgtttcttgtgtcttCatggtctcctgggtttaggt	4	17	13	7	1	4	1	1	0	3	1	5	2	4	1	1	3	1	2	1	3	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:228884456C>T	ENST00000392056.3	-	7	1160	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E372K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	372						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTGTGTCTTCATGGTCTCCT	0.443													25	52					0	0	0	0	T	228884456	C	T	228884456	3	4	429	1	0	0	0	0	1	0	0	0	15138	835	29	2	4012	2	SPHKAP	2	228884456	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	752745	228884456	14314917	136	84403											
MLPH	79083	broad.mit.edu	37	chr2	238427235	238427235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacagcgaccagacagatGaggatggagaacctggctca	14	4	14	9	1	1	5	1	1	0	4	1	9	1	6	2	3	2	1	2	3	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:238427235G>A	ENST00000264605.3	+	5	793	c.499G>A	c.(499-501)Gag>Aag	p.E167K	MLPH_ENST00000338530.4_Missense_Mutation_p.E167K|MLPH_ENST00000410032.1_Missense_Mutation_p.E167K|MLPH_ENST00000445024.2_Missense_Mutation_p.E167K|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.E167K	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	167							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CCAGACAGATGAGGATGGAGA	0.567													11	28					0	0	0	0	A	238427235	G	A	238427235	3	1	429	1	0	0	0	0	1	0	0	0	9702	1291	45	2	513	2	MLPH	2	238427235	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	9542779	238427235	4772138	137	84404											
CNTN6	27255	broad.mit.edu	37	chr3	1424826	1424826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaaggagaaggatccctGagtactgtgaccattgtcta	13	10	11	7	0	1	4	0	3	1	1	2	6	2	5	2	2	1	1	2	2	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:1424826G>A	ENST00000446702.2	+	18	2994	c.2367G>A	c.(2365-2367)ctG>ctA	p.L789L	CNTN6_ENST00000539053.1_Silent_p.L717L|CNTN6_ENST00000350110.2_Silent_p.L789L			Q9UQ52	CNTN6_HUMAN	contactin 6	789	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATCCCTGAGTACTGTGA	0.418													28	45					0	0	0	0	A	1424826	G	A	1424826	2	1	429	1	0	0	0	0	0	0	0	1	3675	1277	45	2		2	CNTN6	3	1424826	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08		1424826	196597604	138	84405											
ITPR1	3708	broad.mit.edu	37	chr3	4712432	4712432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttggttctttctcgttttGaatttgaaggtgtctcttcc	4	20	10	7	1	3	2	0	2	3	0	6	2	4	2	1	3	0	3	1	3	2	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:4712432G>A	ENST00000354582.6	+	20	2376	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	ITPR1_ENST00000357086.4_Missense_Mutation_p.E676K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E676K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E661K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.E661K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E661K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	676					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCTCGTTTTGAATTTGAAGG	0.418													3	7					0	0	0	0	A	4712432	G	A	4712432	3	1	429	1	0	0	0	0	1	0	0	0	7973	1291	45	2	2096	2	ITPR1	3	4712432	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3287606	4712432	193309998	139	84406											
BHLHE40	8553	broad.mit.edu	37	chr3	5022018	5022018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccgcaccggctcatcgaGaaaaagagacgtgaccggat	12	6	12	11	5	1	3	1	1	0	2	2	6	1	4	3	2	1	2	3	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:5022018G>C	ENST00000256495.3	+	3	786	c.183G>C	c.(181-183)gaG>gaC	p.E61D		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	61						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GGCTCATCGAGAAAAAGAGAC	0.572											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	33					0	0	0	0	C	5022018	G	C	5022018	3	2	429	1	0	0	0	0	1	0	0	0	1428	933	33	2	193	2	BHLHE40	3	5022018	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	309586	5022018	193000412	140	84407											
IQSEC1	9922	broad.mit.edu	37	chr3	12977636	12977636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgacagctcctcctcatCgatgtacagggtgacatcac	9	8	11	13	2	2	1	2	1	0	0	5	3	4	1	2	2	2	2	2	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:12977636C>T	ENST00000273221.4	-	3	1138	c.922G>A	c.(922-924)Gat>Aat	p.D308N		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	308					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTCCTCATCGATGTACAGG	0.697													38	81					0	0	0	0	T	12977636	C	T	12977636	3	4	429	1	0	0	0	0	1	0	0	0	7870	884	31	1	2562	1	IQSEC1	3	12977636	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	7955618	12977636	185044794	141	84408											
ITGA9	3680	broad.mit.edu	37	chr3	37860479	37860479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggtccagaaaaaccagtGagctgccacaccagtcacat	13	6	9	13	0	1	2	1	1	0	1	2	2	2	2	4	1	3	1	4	1	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:37860479G>A	ENST00000264741.5	+	28	3363	c.3107G>A	c.(3106-3108)tGa>tAa	p.*1036*	AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000430620.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	0					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AAAAACCAGTGAGCTGCCACA	0.443													5	25					0	0	0	0	A	37860479	G	A	37860479	2	1	429	1	0	0	0	0	0	0	0	1	7936	1285	45	2		2	ITGA9	3	37860479	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	24882843	37860479	160161951	142	84409											
SCN10A	6336	broad.mit.edu	37	chr3	38763895	38763895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgcagcagggacagtggcGaatgcatcctgtggggagag	9	8	17	7	1	0	1	0	0	0	1	1	4	1	2	1	4	3	3	1	4	1	1	rs146965005		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:38763895G>A	ENST00000449082.2	-	19	3360	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1121					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGACAGTGGCGAATGCATCCT	0.552													46	92					0	0	0	0	A	38763895	G	A	38763895	3	1	429	1	0	0	0	0	1	0	0	0	13999	1058	37	1	2545	1	SCN10A	3	38763895	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	903416	38763895	159258535	143	84410											
LIMD1	8994	broad.mit.edu	37	chr3	45636827	45636827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggactgtggttccagggaGagcctggcgacttctgagat	8	9	15	9	1	1	2	0	1	1	2	2	6	2	3	2	4	1	1	2	4	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:45636827G>A	ENST00000273317.4	+	1	477	c.456G>A	c.(454-456)gaG>gaA	p.E152E	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.E152E	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	152					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTTCCAGGGAGAGCCTGGCGA	0.612													33	58					0	0	0	0	A	45636827	G	A	45636827	2	1	429	1	0	0	0	0	0	0	0	1	8852	933	33	2		2	LIMD1	3	45636827	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6872932	45636827	152385603	144	84411											
LIMD1	8994	broad.mit.edu	37	chr3	45718438	45718438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtctggagctcaatgatGaagatggccaccgctgttat	9	11	13	8	1	2	3	1	2	1	1	2	4	2	4	2	3	1	3	2	3	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:45718438G>A	ENST00000273317.4	+	8	1939	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	640	LIM zinc-binding 3.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCTCAATGATGAAGATGGCCA	0.557													58	111					0	0	0	0	A	45718438	G	A	45718438	3	1	429	1	0	0	0	0	1	0	0	0	8852	1291	45	2	1948	2	LIMD1	3	45718438	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	81611	45718438	152303992	145	84412											
CCR3	1232	broad.mit.edu	37	chr3	46307271	46307271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagaatgaccatcttctgtCtcgttctccctctgctcgtt	5	16	7	13	2	5	2	0	2	5	1	8	3	5	2	2	0	1	3	2	0	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:46307271C>T	ENST00000357422.2	+	4	1165	c.622C>T	c.(622-624)Ctc>Ttc	p.L208F	CCR3_ENST00000395942.2_Missense_Mutation_p.L208F|CCR3_ENST00000545097.1_Missense_Mutation_p.L229F|CCR3_ENST00000541018.1_Missense_Mutation_p.L208F|CCR3_ENST00000395940.2_Missense_Mutation_p.L208F			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	208					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATCTTCTGTCTCGTTCTCCC	0.468													34	60					0	0	0	0	T	46307271	C	T	46307271	3	4	429	1	0	0	0	0	1	0	0	0	2971	913	32	2	691	2	CCR3	3	46307271	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	588833	46307271	151715159	146	84413											
SEMA3F	6405	broad.mit.edu	37	chr3	50211682	50211682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagtgtgggaacttcGtcaggctcatccagccctgg	7	8	15	11	2	2	0	2	0	0	0	4	2	3	1	2	4	2	1	2	4	1	1	rs149131307		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:50211682G>A	ENST00000002829.3	+	5	839	c.355G>A	c.(355-357)Gtc>Atc	p.V119I	SEMA3F_ENST00000413852.1_Missense_Mutation_p.V51I|SEMA3F_ENST00000434342.1_Missense_Mutation_p.V119I	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	119	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGGGAACTTCGTCAGGCTCAT	0.642													39	55					0	0	0	0	A	50211682	G	A	50211682	3	1	429	1	0	0	0	0	1	0	0	0	14116	1145	40	1	369	1	SEMA3F	3	50211682	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3904411	50211682	147810748	147	84414											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50655186	50655186	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagtgctggagtgcttccatCggcgcactggacagaagtgt	9	9	14	9	2	0	1	0	0	0	1	2	3	1	3	1	3	2	3	1	3	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:50655186C>G	ENST00000446044.1	+	4	786	c.190C>G	c.(190-192)Cgg>Ggg	p.R64G	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R64G	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	64	Protein kinase.				activation 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|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GTGCTTCCATCGGCGCACTGG	0.612													39	74					0	0	0	0	G	50655186	C	G	50655186	3	3	429	1	0	0	0	0	1	0	0	0	9359	875	31	3	192	3	MAPKAPK3	3	50655186	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	443504	50655186	147367244	148	84415											
PBRM1	55193	broad.mit.edu	37	chr3	52677333	52677333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtgaaggacctgtcagtCtggctgcagccaagttggat	8	11	14	8	0	2	1	1	1	1	0	2	3	2	3	2	3	2	3	2	3	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:52677333C>G	ENST00000296302.7	-	9	927	c.926G>C	c.(925-927)aGa>aCa	p.R309T	PBRM1_ENST00000394830.3_Missense_Mutation_p.R309T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R309T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R309T|PBRM1_ENST00000409767.1_Missense_Mutation_p.R309T|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000337303.4_Missense_Mutation_p.R309T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R309T			Q86U86	PB1_HUMAN	polybromo 1	309					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACCTGTCAGTCTGGCTGCAGC	0.438			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								6	76					0	0	0	0	G	52677333	C	G	52677333	3	3	429	1	0	0	0	0	1	0	0	0	11562	913	32	2	4062	2	PBRM1	3	52677333	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2022147	52677333	145345097	149	84416											
CACNA2D3	55799	broad.mit.edu	37	chr3	54604086	54604086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagcaaacagtctcatcCattttggatacacttgggga	12	10	10	9	1	1	0	1	0	1	0	3	3	2	2	1	3	3	1	1	3	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:54604086C>T	ENST00000474759.1	+	8	891	c.843C>T	c.(841-843)tcC>tcT	p.S281S	CACNA2D3_ENST00000288197.5_Silent_p.S281S|CACNA2D3_ENST00000490478.1_Silent_p.S187S|CACNA2D3_ENST00000415676.2_Silent_p.S281S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	281	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGTCTCATCCATTTTGGATA	0.453													4	106					0	0	0	0	T	54604086	C	T	54604086	2	4	429	1	0	0	0	0	0	0	0	1	2575	581	21	4		4	CACNA2D3	3	54604086	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1926753	54604086	143418344	150	84417											
CCDC66	285331	broad.mit.edu	37	chr3	56627106	56627106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaccgtcaaagaaaaataGaggaaaaaattatatattca	22	9	6	4	1	2	3	2	1	0	2	2	4	2	4	1	1	0	0	1	1	10	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:56627106G>C	ENST00000394672.3	+	8	1115	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	CCDC66_ENST00000436465.2_Missense_Mutation_p.E349Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.E315Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	349										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAGAAAAATAGAGGAAAAAAT	0.303													30	29					0	0	0	0	C	56627106	G	C	56627106	3	2	429	1	0	0	0	0	1	0	0	0	2865	943	33	2	1075	2	CCDC66	3	56627106	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2023020	56627106	141395324	151	84418											
CADPS	8618	broad.mit.edu	37	chr3	62636530	62636530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctttttacctccaatgAgaaagacagcacgacatctg	13	9	9	10	1	1	2	0	1	1	2	2	4	2	2	2	1	2	2	2	1	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:62636530A>G	ENST00000383710.4	-	5	1544	c.1195T>C	c.(1195-1197)Tca>Cca	p.S399P	CADPS_ENST00000357948.3_Missense_Mutation_p.S399P|CADPS_ENST00000283269.9_Missense_Mutation_p.S399P|CADPS_ENST00000490353.2_Missense_Mutation_p.S399P	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	399					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACCTCCAATGAGAAAGACAGC	0.488													10	38					0	0	0	0	G	62636530	A	G	62636530	3	3	429	1	0	0	0	0	1	0	0	0	2595	304	11	5	3043	5	CADPS	3	62636530	Missense_Mutation	SNP	A	TCGA-HL-7533-01A-11D-2229-08	6009424	62636530	135385900	152	84419											
SUCLG2	8801	broad.mit.edu	37	chr3	67451196	67451196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttgagttctagctccCggcaggctttggtgatccca	6	11	11	13	1	1	2	0	2	1	0	3	2	3	2	3	3	1	5	3	3	1	4	rs12492080		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:67451196C>T	ENST00000307227.5	-	10	1169	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	SUCLG2_ENST00000493112.1_Missense_Mutation_p.R381Q	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	381			R -> W (in dbSNP:rs7623258).		succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	p.R333L(1)|p.R381L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCTAGCTCCCGGCAGGCTTT	0.502													20	58					0	0	0	0	T	67451196	C	T	67451196	3	4	429	1	0	0	0	0	1	0	0	0	15455	652	23	1	308	1	SUCLG2	3	67451196	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4814666	67451196	130571234	153	84420											
MITF	4286	broad.mit.edu	37	chr3	70005647	70005647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acataaatgaccgcattaaaGaactaggtactttgattccc	15	11	6	9	1	0	3	0	2	0	1	1	3	1	3	2	1	2	2	2	1	7	6	rs147682682		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:70005647G>C	ENST00000352241.4	+	8	1142	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	MITF_ENST00000472437.1_Missense_Mutation_p.E275Q|MITF_ENST00000328528.6_Missense_Mutation_p.E326Q|MITF_ENST00000394355.2_Missense_Mutation_p.E302Q|MITF_ENST00000531774.1_Missense_Mutation_p.E164Q|MITF_ENST00000448226.2_Missense_Mutation_p.E333Q|MITF_ENST00000394351.3_Missense_Mutation_p.E226Q|MITF_ENST00000314589.5_Missense_Mutation_p.E311Q|MITF_ENST00000314557.6_Missense_Mutation_p.E220Q	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	333	Helix-loop-helix motif.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCGCATTAAAGAACTAGGTAC	0.363			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						14	30					0	0	0	0	C	70005647	G	C	70005647	3	2	429	1	0	0	0	0	1	0	0	0	9665	943	33	2	1248	2	MITF	3	70005647	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2554451	70005647	128016783	154	84421											
CRYBG3	131544	broad.mit.edu	37	chr3	97596632	97596632	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttctaagaattcatatgtGatgccaaatgaacctactac	15	13	5	8	0	2	3	1	2	1	1	2	3	2	3	2	0	4	0	2	0	7	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:97596632G>C	ENST00000182096.4	+	1	814	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATTCATATGTGATGCCAAATG	0.443													13	30					0	0	0	0	C	97596632	G	C	97596632	2	2	429	1	0	0	0	0	0	0	0	1	3943	1277	45	2		2	CRYBG3	3	97596632	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	27590985	97596632	100425798	155	84422											
OR5H1	26341	broad.mit.edu	37	chr3	97852279	97852279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgtggagcccatctcttCtctgtctctttatactatgg	6	16	7	12	0	3	0	0	0	3	0	6	1	3	1	2	2	2	0	2	2	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:97852279C>G	ENST00000354565.2	+	1	738	c.738C>G	c.(736-738)ttC>ttG	p.F246L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CCCATCTCTTCTCTGTCTCTT	0.413													29	46					0	0	0	0	G	97852279	C	G	97852279	3	3	429	1	0	0	0	0	1	0	0	0	11230	912	32	2	740	2	OR5H1	3	97852279	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	255647	97852279	100170151	156	84423											
OR5H6	79295	broad.mit.edu	37	chr3	97983603	97983603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaccaatgaactatgcattCagctattagtcttgtcattt	11	16	6	8	0	3	2	2	2	1	0	3	2	3	2	1	0	3	2	1	0	5	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:97983603C>G	ENST00000383696.2	+	1	516	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACTATGCATTCAGCTATTAGT	0.353													15	58					0	0	0	0	G	97983603	C	G	97983603	3	3	429	1	0	0	0	0	1	0	0	0	11234	827	29	2	477	2	OR5H6	3	97983603	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	131324	97983603	100038827	157	84424											
CEP97	79598	broad.mit.edu	37	chr3	101443560	101443560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgcggctttgcctcccggaGaaggtaaggcgatccctacc	8	7	12	14	4	0	1	0	0	0	1	2	3	2	1	4	4	2	2	4	4	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:101443560G>C	ENST00000341893.3	+	1	792	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q	CEP97_ENST00000494050.1_Missense_Mutation_p.E14Q|CEP97_ENST00000327230.4_Missense_Mutation_p.E14Q			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	14						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCTCCCGGAGAAGGTAAGGC	0.532													16	42					0	0	0	0	C	101443560	G	C	101443560	3	2	429	1	0	0	0	0	1	0	0	0	3292	943	33	2	42	2	CEP97	3	101443560	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3459957	101443560	96578870	158	84425											
MYH15	22989	broad.mit.edu	37	chr3	108112937	108112937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactcctgcaccacctcttCagcttctttctgcatccggg	6	12	6	17	1	4	0	1	0	3	0	6	0	6	0	4	1	3	3	4	1	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:108112937C>T	ENST00000273353.3	-	37	5316	c.5260G>A	c.(5260-5262)Gaa>Aaa	p.E1754K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1754						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1754K(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						ACCACCTCTTCAGCTTCTTTC	0.498													22	140					0	0	0	0	T	108112937	C	T	108112937	3	4	429	1	0	0	0	0	1	0	0	0	10104	835	29	2	604	2	MYH15	3	108112937	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6669377	108112937	89909493	159	84426											
PHLDB2	90102	broad.mit.edu	37	chr3	111603744	111603744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgacacctctcagcttgcctCcaagaaactctctgggcaat	10	10	7	14	0	2	2	1	1	2	1	5	2	3	2	3	1	3	2	3	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:111603744C>T	ENST00000431670.2	+	2	1231	c.820C>T	c.(820-822)Cca>Tca	p.P274S	PHLDB2_ENST00000393925.3_Missense_Mutation_p.P274S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.P274S|PHLDB2_ENST00000478922.1_Missense_Mutation_p.P274S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P274S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P301S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P274S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	274						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAGCTTGCCTCCAAGAAACTC	0.468													19	87					0	0	0	0	T	111603744	C	T	111603744	3	4	429	1	0	0	0	0	1	0	0	0	11924	855	30	2	907	2	PHLDB2	3	111603744	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3490807	111603744	86418686	160	84427											
CCDC80	151887	broad.mit.edu	37	chr3	112326071	112326071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacttcctctccaacgcCtaaaagcttcagaatggtta	12	10	5	14	1	2	1	1	0	1	1	4	1	3	1	4	1	3	2	4	1	6	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:112326071C>G	ENST00000206423.3	-	7	3411	c.2458G>C	c.(2458-2460)Ggc>Cgc	p.G820R	CCDC80_ENST00000439685.2_Missense_Mutation_p.G820R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	820										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTCCAACGCCTAAAAGCTTC	0.378													33	48					0	0	0	0	G	112326071	C	G	112326071	3	3	429	1	0	0	0	0	1	0	0	0	2881	681	24	4	402	4	CCDC80	3	112326071	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	722327	112326071	85696359	161	84428											
WDR52	55779	broad.mit.edu	37	chr3	113099899	113099899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacagataattagtaaagtActttcaggctaaaaaagaaa	20	10	6	5	0	2	2	2	0	0	2	2	2	2	2	0	1	1	3	0	1	9	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:113099899A>C	ENST00000393845.2	-	16	1965	c.1899T>G	c.(1897-1899)agT>agG	p.S633R	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.S633R	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	633										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTAGTAAAGTACTTTCAGGCT	0.269													23	18					0	0	0	0	C	113099899	A	C	113099899	3	2	429	1	0	0	0	0	1	0	0	0	17400	388	14	5	3760	5	WDR52	3	113099899	Missense_Mutation	SNP	A	TCGA-HL-7533-01A-11D-2229-08	773828	113099899	84922531	162	84429											
NAA50	80218	broad.mit.edu	37	chr3	113440619	113440619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttgttcagttgtctgtCttttgcacatctgcattctg	6	20	7	8	0	5	0	1	0	4	0	5	0	5	0	0	0	2	4	0	0	1	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:113440619C>T	ENST00000240922.2	-	5	822	c.498G>A	c.(496-498)aaG>aaA	p.K166K	NAA50_ENST00000497255.1_Silent_p.K55K|NAA50_ENST00000497525.1_Silent_p.K92K|NAA50_ENST00000493900.1_Silent_p.K165K|NAA50_ENST00000493454.1_Silent_p.K92K|NAA50_ENST00000477813.1_Silent_p.K126K	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	166					N-terminal protein amino acid acetylation	cytoplasm	N-acetyltransferase activity|protein binding			large_intestine(2)|lung(2)|skin(1)	5						AGTTGTCTGTCTTTTGCACAT	0.428													61	89					0	0	0	0	T	113440619	C	T	113440619	2	4	429	1	0	0	0	0	0	0	0	1	10196	912	32	2		2	NAA50	3	113440619	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	340720	113440619	84581811	163	84430											
GRAMD1C	54762	broad.mit.edu	37	chr3	113653302	113653302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccacagatttgaaatacaGaaaacagccatggggccttg	14	9	9	9	0	0	3	0	1	0	2	1	3	1	3	3	2	3	0	3	2	4	4	rs74551540		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:113653302G>A	ENST00000358160.4	+	13	1868	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R292K|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R188K|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R254K	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	459						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTGAAATACAGAAAACAGCCA	0.299													30	130					0	0	0	0	A	113653302	G	A	113653302	3	1	429	1	0	0	0	0	1	0	0	0	6799	942	33	2	1426	2	GRAMD1C	3	113653302	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	212683	113653302	84369128	164	84431											
ZDHHC23	254887	broad.mit.edu	37	chr3	113667698	113667698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagaaaaagaaaaccgaaGaacctgaattggagcccctg	18	5	10	8	1	0	5	0	2	0	3	0	7	0	6	4	1	3	0	4	1	8	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:113667698G>A	ENST00000330212.3	+	2	348	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E11K	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	17						integral to membrane	acyltransferase activity|zinc ion binding	p.E17*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GAAAACCGAAGAACCTGAATT	0.478													37	113					0	0	0	0	A	113667698	G	A	113667698	3	1	429	1	0	0	0	0	1	0	0	0	17709	943	33	2	51	2	ZDHHC23	3	113667698	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	14396	113667698	84354732	165	84432											
LSAMP	4045	broad.mit.edu	37	chr3	115571361	115571361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgacttgtttgacatcCgccgaggagacctcgttggc	7	11	11	12	3	0	3	0	2	0	1	2	5	1	3	4	2	0	2	4	2	0	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:115571361C>T	ENST00000490035.1	-	4	1117	c.618G>A	c.(616-618)gcG>gcA	p.A206A	LSAMP_ENST00000539563.1_Silent_p.A203A|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	206	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTTTGACATCCGCCGAGGAGA	0.532													16	70					0	0	0	0	T	115571361	C	T	115571361	2	4	429	1	0	0	0	0	0	0	0	1	9112	639	23	1		1	LSAMP	3	115571361	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1903663	115571361	82451069	166	84433											
CD80	941	broad.mit.edu	37	chr3	119256113	119256113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagtttcaggatcttGggaaactgttgtgttgatgg	8	14	14	5	0	3	1	2	1	1	0	3	4	3	3	0	3	2	4	0	3	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:119256113G>C	ENST00000264246.3	-	4	933	c.571C>G	c.(571-573)Caa>Gaa	p.Q191E	CD80_ENST00000478182.1_Missense_Mutation_p.Q191E|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.Q191E	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	191	Ig-like C2-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TCAGGATCTTGGGAAACTGTT	0.418													65	111					0	0	0	0	C	119256113	G	C	119256113	3	2	429	1	0	0	0	0	1	0	0	0	3067	1357	47	4	307	4	CD80	3	119256113	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3684752	119256113	78766317	167	84434											
HCLS1	3059	broad.mit.edu	37	chr3	121353058	121353058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggccaggcgctcacctctGaggagattttcttgggcagt	7	10	14	10	1	3	2	1	1	2	1	3	3	3	2	2	4	0	2	2	4	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:121353058G>A	ENST00000314583.3	-	10	990	c.899C>T	c.(898-900)tCa>tTa	p.S300L	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.S263L	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	300					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GCTCACCTCTGAGGAGATTTT	0.567													35	112					0	0	0	0	A	121353058	G	A	121353058	3	1	429	1	0	0	0	0	1	0	0	0	7045	1294	45	2	581	2	HCLS1	3	121353058	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2096945	121353058	76669372	168	84435											
PARP14	54625	broad.mit.edu	37	chr3	122447263	122447263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagcatgtgtattatgtgcGagtacttactggaatctata	13	14	9	5	1	1	0	0	0	1	0	1	2	1	1	0	1	4	3	0	1	8	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:122447263G>A	ENST00000474629.2	+	17	5491	c.5225G>A	c.(5224-5226)cGa>cAa	p.R1742Q		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1742	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TATTATGTGCGAGTACTTACT	0.398													8	150					0	0	0	0	A	122447263	G	A	122447263	3	1	429	1	0	0	0	0	1	0	0	0	11529	1058	37	1	5291	1	PARP14	3	122447263	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1094205	122447263	75575167	169	84436											
PDIA5	10954	broad.mit.edu	37	chr3	122842957	122842957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctgaatttgaaaacatCaaggaggagtacagcgtgcg	13	9	11	8	2	2	2	1	2	1	0	3	4	3	4	1	2	4	1	1	2	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:122842957C>G	ENST00000316218.7	+	9	749	c.654C>G	c.(652-654)atC>atG	p.I218M		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	218	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTGAAAACATCAAGGAGGAGT	0.557													29	52					0	0	0	0	G	122842957	C	G	122842957	3	3	429	1	0	0	0	0	1	0	0	0	11742	816	29	2	688	2	PDIA5	3	122842957	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	395694	122842957	75179473	170	84437											
KALRN	8997	broad.mit.edu	37	chr3	124114062	124114062	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggatgcagtccaggaactGatcaagcagttccagcagca	12	7	12	10	0	1	1	1	1	0	0	3	3	3	3	2	2	5	5	2	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:124114062G>C	ENST00000360013.3	+	12	2164	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	KALRN_ENST00000460856.1_Silent_p.L679L|KALRN_ENST00000240874.3_Silent_p.L679L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	679					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCAGGAACTGATCAAGCAGT	0.522													4	65					0	0	0	0	C	124114062	G	C	124114062	2	2	429	1	0	0	0	0	0	0	0	1	8028	1277	45	2		2	KALRN	3	124114062	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1271105	124114062	73908368	171	84438											
SLC12A8	84561	broad.mit.edu	37	chr3	124837639	124837639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctatcaggaagtcatagcGaagggcctctcgagtgcaga	11	7	13	10	3	3	1	2	0	1	1	4	4	3	2	1	2	2	2	1	2	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:124837639G>A	ENST00000423114.2	-	8	972	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	SLC12A8_ENST00000469902.1_Missense_Mutation_p.R296C|SLC12A8_ENST00000393469.4_Missense_Mutation_p.R296C|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R97C|SLC12A8_ENST00000314584.7_Missense_Mutation_p.R49C|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	296					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AAGTCATAGCGAAGGGCCTCT	0.542													5	31					0	0	0	0	A	124837639	G	A	124837639	3	1	429	1	0	0	0	0	1	0	0	0	14477	1058	37	1	1286	1	SLC12A8	3	124837639	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	723577	124837639	73184791	172	84439											
SLC12A8	84561	broad.mit.edu	37	chr3	124837685	124837685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggaggaagacgaagatGatgtacagaaaccacctgca	16	4	11	10	1	0	4	0	1	0	3	0	7	0	6	3	2	3	2	3	2	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:124837685G>A	ENST00000423114.2	-	8	926	c.927C>T	c.(925-927)atC>atT	p.I309I	SLC12A8_ENST00000469902.1_Silent_p.I280I|SLC12A8_ENST00000393469.4_Silent_p.I280I|SLC12A8_ENST00000430155.2_Silent_p.I81I|SLC12A8_ENST00000314584.7_Silent_p.I33I|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	280					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AGACGAAGATGATGTACAGAA	0.562													3	32					0	0	0	0	A	124837685	G	A	124837685	2	1	429	1	0	0	0	0	0	0	0	1	14477	1280	45	2		2	SLC12A8	3	124837685	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	46	124837685	73184745	173	84440											
DNAJC13	23317	broad.mit.edu	37	chr3	132222058	132222058	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttaattttttttataacagGaggtagcaaacagccttgcc	12	14	7	8	0	0	0	0	0	0	0	0	1	0	1	2	2	5	2	2	2	5	8			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:132222058G>A	ENST00000260818.6	+	41	4965	c.4716_splice	c.e41-1	p.E1573_splice		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1573							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTATAACAGGAGGTAGCAAA	0.363													14	45					0	0	0	0	A	132222058	G	A	132222058	5	1	429	1	0	0	0	0	0	0	1	0	4668	1188	41	2	4875	2	DNAJC13	3	132222058	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7384373	132222058	65800372	174	84441											
SLCO2A1	6578	broad.mit.edu	37	chr3	133667438	133667438	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttctccaggaacttgttGaggaaggtggagaggccagc	9	9	15	8	0	1	2	0	1	1	1	2	5	1	4	2	5	3	2	2	5	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:133667438G>C	ENST00000310926.4	-	8	1320	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	SLCO2A1_ENST00000493729.1_Silent_p.L273L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	349					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGAACTTGTTGAGGAAGGTGG	0.577													112	164					0	0	0	0	C	133667438	G	C	133667438	2	2	429	1	0	0	0	0	0	0	0	1	14814	1277	45	2		2	SLCO2A1	3	133667438	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1445380	133667438	64354992	175	84442											
PPP2R3A	5523	broad.mit.edu	37	chr3	135720853	135720853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tataacaacgatgggaacgcCccatcctttggtttactgcg	10	11	9	11	3	0	0	0	0	0	0	1	2	1	1	3	2	5	1	3	2	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:135720853C>T	ENST00000264977.3	+	2	1130	c.513C>T	c.(511-513)gcC>gcT	p.A171A	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	171			A -> S (in dbSNP:rs6779903).		protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGGGAACGCCCCATCCTTTG	0.423													46	56					0	0	0	0	T	135720853	C	T	135720853	2	4	429	1	0	0	0	0	0	0	0	1	12464	610	22	4		4	PPP2R3A	3	135720853	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2053415	135720853	62301577	176	84443											
PPP2R3A	5523	broad.mit.edu	37	chr3	135745863	135745863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagtaatcatgaacaaactCtaagcagaattgaaactgct	17	10	7	7	0	2	3	1	2	1	1	2	3	2	3	0	0	5	4	0	0	7	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:135745863C>G	ENST00000264977.3	+	3	2802	c.2185C>G	c.(2185-2187)Cta>Gta	p.L729V	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.L108V|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000490467.1_5'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	729					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAACAAACTCTAAGCAGAAT	0.363													20	64					0	0	0	0	G	135745863	C	G	135745863	3	3	429	1	0	0	0	0	1	0	0	0	12464	912	32	2	2327	2	PPP2R3A	3	135745863	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	25010	135745863	62276567	177	84444											
MSL2	55167	broad.mit.edu	37	chr3	135870601	135870601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaattttgctctcccgtttCactgtcacaggagcagatgc	9	12	9	11	1	3	1	2	0	1	1	4	3	3	2	1	1	3	3	1	1	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:135870601C>T	ENST00000309993.2	-	2	1854	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	MSL2_ENST00000434835.2_Silent_p.V300V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	374					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTCCCGTTTCACTGTCACAG	0.443													45	72					0	0	0	0	T	135870601	C	T	135870601	2	4	429	1	0	0	0	0	0	0	0	1	9948	813	29	2		2	MSL2	3	135870601	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	124738	135870601	62151829	178	84445											
CEP70	80321	broad.mit.edu	37	chr3	138219004	138219004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctgctcattcacatcttCattaatcagcctacagagtt	12	13	4	12	0	5	1	4	0	1	1	5	1	5	1	2	0	4	2	2	0	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:138219004C>G	ENST00000264982.3	-	16	1866	c.1600G>C	c.(1600-1602)Gaa>Caa	p.E534Q	CEP70_ENST00000481834.1_Missense_Mutation_p.E534Q|CEP70_ENST00000542237.1_Missense_Mutation_p.E514Q|CEP70_ENST00000489254.1_Missense_Mutation_p.E382Q|CEP70_ENST00000484888.1_Missense_Mutation_p.E534Q	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	534					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTCACATCTTCATTAATCAGC	0.373													12	160					0	0	0	0	G	138219004	C	G	138219004	3	3	429	1	0	0	0	0	1	0	0	0	3288	835	29	2	205	2	CEP70	3	138219004	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2348403	138219004	59803426	179	84446											
ZBTB38	253461	broad.mit.edu	37	chr3	141163753	141163753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctttgccaaataacagtGaaaattggaaacgaagccat	16	8	7	10	1	0	1	0	1	0	0	0	3	0	2	4	1	4	0	4	1	6	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:141163753G>A	ENST00000514251.1	+	4	2802	c.2523G>A	c.(2521-2523)gtG>gtA	p.V841V	ZBTB38_ENST00000441582.2_Silent_p.V841V|ZBTB38_ENST00000321464.5_Silent_p.V842V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	841					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAATAACAGTGAAAATTGGAA	0.413													22	76					0	0	0	0	A	141163753	G	A	141163753	2	1	429	1	0	0	0	0	0	0	0	1	17634	1277	45	2		2	ZBTB38	3	141163753	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2944749	141163753	56858677	180	84447											
RASA2	5922	broad.mit.edu	37	chr3	141205979	141205979	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcttccgaggcgccagcggcGagtgcgactgcagagcccga	7	5	15	14	6	1	1	0	0	1	1	2	5	2	1	3	2	4	1	3	2	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:141205979G>C	ENST00000286364.3	+	1	89	c.54G>C	c.(52-54)gcG>gcC	p.A18A	RASA2_ENST00000452898.1_Silent_p.A18A			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	18	Ala-rich.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						cgccagcggcgAGTGCGACTG	0.746													7	5					0	0	0	0	C	141205979	G	C	141205979	2	2	429	1	0	0	0	0	0	0	0	1	13143	1045	37	3		3	RASA2	3	141205979	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	42226	141205979	56816451	181	84448											
TRPC1	7220	broad.mit.edu	37	chr3	142467159	142467159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actatggatgttgcacctgtCattttagctgctcatcgtaa	9	15	8	9	1	2	0	2	0	0	0	3	1	2	1	1	1	3	5	1	1	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:142467159C>T	ENST00000273482.6	+	3	778	c.387C>T	c.(385-387)gtC>gtT	p.V129V	TRPC1_ENST00000476941.1_Silent_p.V163V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	163					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGCACCTGTCATTTTAGCTG	0.353													21	128					0	0	0	0	T	142467159	C	T	142467159	2	4	429	1	0	0	0	0	0	0	0	1	16673	813	29	2		2	TRPC1	3	142467159	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1261180	142467159	55555271	182	84449											
HLTF	6596	broad.mit.edu	37	chr3	148757389	148757389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagtggtatttctattaaaGacaggaatgttgtaaactga	15	14	9	3	0	1	2	0	1	1	1	1	3	1	3	0	2	1	3	0	2	8	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:148757389G>C	ENST00000310053.5	-	22	2787	c.2594C>G	c.(2593-2595)tCt>tGt	p.S865C	HLTF_ENST00000465259.1_Missense_Mutation_p.S864C|HLTF_ENST00000392912.2_Missense_Mutation_p.S865C|HLTF_ENST00000494055.1_Missense_Mutation_p.S865C	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	865	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTATTAAAGACAGGAATGT	0.299													6	25					0	0	0	0	C	148757389	G	C	148757389	3	2	429	1	0	0	0	0	1	0	0	0	7265	942	33	2	451	2	HLTF	3	148757389	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6290230	148757389	49265041	183	84450											
VEPH1	79674	broad.mit.edu	37	chr3	157081391	157081391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactcccccagctgtgatctCtcagtgtctgtcttaaacgg	7	12	9	13	1	4	1	1	1	3	0	6	2	5	1	2	1	2	1	2	1	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:157081391C>G	ENST00000362010.2	-	9	1804	c.1497G>C	c.(1495-1497)gaG>gaC	p.E499D	VEPH1_ENST00000392832.2_Missense_Mutation_p.E499D|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.E499D|VEPH1_ENST00000543418.1_Missense_Mutation_p.E499D	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	499						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GCTGTGATCTCTCAGTGTCTG	0.418													8	155					0	0	0	0	G	157081391	C	G	157081391	3	3	429	1	0	0	0	0	1	0	0	0	17250	912	32	2	1028	2	VEPH1	3	157081391	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8324002	157081391	40941039	184	84451											
SLITRK3	22865	broad.mit.edu	37	chr3	164906079	164906079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttcccccaactactcctGaaaccccaccaactgctggg	10	7	6	18	0	0	1	0	1	0	0	2	1	2	1	6	1	5	2	6	1	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:164906079G>A	ENST00000475390.1	-	2	2983	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S847L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	847						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AACTACTCCTGAAACCCCACC	0.572										HNSCC(40;0.11)			72	115					0	0	0	0	A	164906079	G	A	164906079	3	1	429	1	0	0	0	0	1	0	0	0	14832	1294	45	2	397	2	SLITRK3	3	164906079	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7824688	164906079	33116351	185	84452											
NCEH1	57552	broad.mit.edu	37	chr3	172351349	172351349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggccagctagtgaaaatCatacatccgtgaaagccatc	13	8	10	10	1	1	2	1	2	0	0	3	2	2	2	3	1	3	1	3	1	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:172351349C>G	ENST00000475381.1	-	5	1376	c.1143G>C	c.(1141-1143)atG>atC	p.M381I	NCEH1_ENST00000538775.1_Missense_Mutation_p.M421I|NCEH1_ENST00000273512.3_Missense_Mutation_p.M413I|NCEH1_ENST00000543711.1_Missense_Mutation_p.M248I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	381					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TAGTGAAAATCATACATCCGT	0.483													24	95					0	0	0	0	G	172351349	C	G	172351349	3	3	429	1	0	0	0	0	1	0	0	0	10285	826	29	2	87	2	NCEH1	3	172351349	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	7445270	172351349	25671081	186	84453											
KCNMB2	10242	broad.mit.edu	37	chr3	178560477	178560477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtggaaaaaattttgaaGaatccatgtccctggtgaat	15	12	9	5	0	0	3	0	2	0	1	2	4	2	4	2	2	0	0	2	2	7	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:178560477G>A	ENST00000432997.1	+	5	812	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.E154K|KCNMB2_ENST00000452583.1_Missense_Mutation_p.E154K|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.E154K	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	154					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			AAATTTTGAAGAATCCATGTC	0.398													19	73					0	0	0	0	A	178560477	G	A	178560477	3	1	429	1	0	0	0	0	1	0	0	0	8128	943	33	2	474	2	KCNMB2	3	178560477	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6209128	178560477	19461953	187	84454											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	37					0	0	0	0	A	178936091	G	A	178936091	3	1	429	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	375614	178936091	19086339	188	84455											
MFN1	55669	broad.mit.edu	37	chr3	179085838	179085838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacaggtgtggcacttgctGaaggatttcatgcaagatta	11	13	11	6	0	1	2	1	1	0	1	1	3	1	3	0	3	3	3	0	3	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:179085838G>A	ENST00000471841.1	+	9	1048	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MFN1_ENST00000263969.5_Missense_Mutation_p.E308K|MFN1_ENST00000280653.7_Missense_Mutation_p.E308K	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	308					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGCACTTGCTGAAGGATTTCA	0.323													3	22					0	0	0	0	A	179085838	G	A	179085838	3	1	429	1	0	0	0	0	1	0	0	0	9592	1291	45	2	952	2	MFN1	3	179085838	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	149747	179085838	18936592	189	84456											
TTC14	151613	broad.mit.edu	37	chr3	180325500	180325500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagctttggctttggatGagacttttaaagatgcagag	13	12	12	4	0	0	4	0	1	0	4	0	6	0	5	0	2	2	3	0	2	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:180325500G>A	ENST00000412756.2	+	10	1306	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TTC14_ENST00000382584.4_Missense_Mutation_p.E413K|TTC14_ENST00000296015.4_Missense_Mutation_p.E413K	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	413							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGCTTTGGATGAGACTTTTAA	0.284													8	33					0	0	0	0	A	180325500	G	A	180325500	3	1	429	1	0	0	0	0	1	0	0	0	16777	1291	45	2	1275	2	TTC14	3	180325500	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1239662	180325500	17696930	190	84457											
ABCF3	55324	broad.mit.edu	37	chr3	183910630	183910630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttcagccagcaccatgtgGagcagctggacctaaacgtc	11	8	10	12	1	1	0	1	0	0	0	2	2	1	2	3	2	5	3	3	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:183910630G>C	ENST00000429586.2	+	18	1881	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	ABCF3_ENST00000292808.5_Missense_Mutation_p.E560Q|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	566	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCACCATGTGGAGCAGCTGGA	0.537													14	61					0	0	0	0	C	183910630	G	C	183910630	3	2	429	1	0	0	0	0	1	0	0	0	67	1175	41	2	1766	2	ABCF3	3	183910630	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3585130	183910630	14111800	191	84458											
PSMD2	5708	broad.mit.edu	37	chr3	184021128	184021128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttgggggcagtggctctCaggtggactctgcccgcatg	4	10	17	10	1	2	0	1	0	2	0	3	1	2	1	1	6	1	4	1	6	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:184021128C>G	ENST00000310118.4	+	9	1648	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	PSMD2_ENST00000435761.1_Missense_Mutation_p.Q205E|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.Q234E	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CAGTGGCTCTCAGGTGGACTC	0.507													32	110					0	0	0	0	G	184021128	C	G	184021128	3	3	429	1	0	0	0	0	1	0	0	0	12777	827	29	2	1124	2	PSMD2	3	184021128	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	110498	184021128	14001302	192	84459											
TP63	8626	broad.mit.edu	37	chr3	189611995	189611995	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccttcccctgttgcacagGatctggcaagtctgaaaatc	10	10	8	13	0	2	1	0	1	2	0	4	2	3	2	3	2	1	3	3	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:189611995G>C	ENST00000264731.3	+	14	1836	c.1746_splice	c.e14-1	p.D583_splice	TP63_ENST00000392461.3_Splice_Site_p.R409_splice|TP63_ENST00000440651.2_Splice_Site_p.D579_splice|TP63_ENST00000354600.5_Splice_Site_p.D489_splice|TP63_ENST00000392463.2_Splice_Site_p.R457_splice|TP63_ENST00000392460.3_Splice_Site_p.R551_splice|TP63_ENST00000320472.5_Splice_Site_p.R503_splice|TP63_ENST00000449992.1_Splice_Site_p.D404_splice|TP63_ENST00000456148.1_Splice_Site_p.D485_splice|TP63_ENST00000382063.4_Splice_Site_p.D498_splice	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	583	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTGCACAGGATCTGGCAAG	0.493										HNSCC(45;0.13)			18	64					0	0	0	0	C	189611995	G	C	189611995	5	2	429	1	0	0	0	0	0	0	1	0	16487	1188	41	2	1966	2	TP63	3	189611995	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5590867	189611995	8410435	193	84460											
GP5	2814	broad.mit.edu	37	chr3	194118045	194118045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcgctcagccgcgggctcaGagtcacccctaagtaccgca	8	5	11	17	5	3	1	3	0	0	1	3	1	3	1	4	1	2	4	4	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:194118045G>A	ENST00000401815.1	-	1	1038	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	GP5_ENST00000323007.3_Silent_p.L323L			P40197	GPV_HUMAN	glycoprotein V (platelet)	323					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGCGGGCTCAGAGTCACCCCT	0.731													15	23					0	0	0	0	A	194118045	G	A	194118045	2	1	429	1	0	0	0	0	0	0	0	1	6632	933	33	2		2	GP5	3	194118045	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4506050	194118045	3904385	194	84461											
ATP13A3	79572	broad.mit.edu	37	chr3	194162186	194162186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacattttcttctggtgaaaGaaatctaagcagaagacaca	16	10	7	8	0	3	4	0	1	3	3	3	4	3	4	0	1	1	1	0	1	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:194162186G>C	ENST00000439040.1	-	16	2355	c.1564C>G	c.(1564-1566)Ctt>Gtt	p.L522V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.L522V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	522					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTGGTGAAAGAAATCTAAGC	0.318													5	76					0	0	0	0	C	194162186	G	C	194162186	3	2	429	1	0	0	0	0	1	0	0	0	1129	942	33	2	2188	2	ATP13A3	3	194162186	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	44141	194162186	3860244	195	84462											
TNK2	10188	broad.mit.edu	37	chr3	195606028	195606028	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagaaggtgcgtgtcttCaggctctcgggggcacacct	6	9	16	10	2	3	1	1	0	2	1	4	2	3	1	1	5	1	2	1	5	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:195606028C>G	ENST00000333602.6	-	7	1523	c.906G>C	c.(904-906)ctG>ctC	p.L302L	TNK2_ENST00000392400.1_Silent_p.L302L|TNK2_ENST00000316664.3_Silent_p.L302L|TNK2_ENST00000381916.2_Silent_p.L365L|TNK2_ENST00000428187.1_Silent_p.L334L|TNK2_ENST00000468819.1_5'UTR	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	302	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGCGTGTCTTCAGGCTCTCGG	0.607													9	199					0	0	0	0	G	195606028	C	G	195606028	2	3	429	1	0	0	0	0	0	0	0	1	16412	813	29	2		2	TNK2	3	195606028	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1443842	195606028	2416402	196	84463											
FYTTD1	84248	broad.mit.edu	37	chr3	197476886	197476886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgggagccacggcgacttCttcgccgccgccgaaggccc	5	5	15	16	6	1	0	0	0	1	0	2	3	1	1	5	4	1	0	5	4	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:197476886C>T	ENST00000241502.3	+	1	266	c.44C>T	c.(43-45)tCt>tTt	p.S15F	FYTTD1_ENST00000428395.2_Intron|FYTTD1_ENST00000415708.2_Intron	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	15					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ACGGCGACTTCTTCGCCGCCG	0.652													16	25					0	0	0	0	T	197476886	C	T	197476886	3	4	429	1	0	0	0	0	1	0	0	0	6175	913	32	2	46	2	FYTTD1	3	197476886	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1870858	197476886	545544	197	84464											
FYTTD1	84248	broad.mit.edu	37	chr3	197483397	197483397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcccagcaattcaggatGagagtgcgatggggaatcca	11	7	15	8	1	1	1	1	1	0	1	2	5	2	3	2	4	3	1	2	4	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:197483397G>A	ENST00000241502.3	+	2	426	c.204G>A	c.(202-204)atG>atA	p.M68I	FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000424384.2_Start_Codon_SNP_p.M1I|FYTTD1_ENST00000415708.2_Missense_Mutation_p.M42I	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	68					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AATTCAGGATGAGAGTGCGAT	0.393													26	160					0	0	0	0	A	197483397	G	A	197483397	3	1	429	1	0	0	0	0	1	0	0	0	6175	1290	45	2	239	2	FYTTD1	3	197483397	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6511	197483397	539033	198	84465											
IQCG	84223	broad.mit.edu	37	chr3	197670704	197670704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatgatgtagttcagaataGagagctggtctgtggtgtcc	9	12	14	6	0	2	3	1	1	1	2	3	4	3	3	1	2	1	4	1	2	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:197670704G>C	ENST00000265239.6	-	4	651	c.227C>G	c.(226-228)tCt>tGt	p.S76C	IQCG_ENST00000453254.1_Missense_Mutation_p.S76C|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.S76C	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	76										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTTCAGAATAGAGAGCTGGTC	0.463													29	122					0	0	0	0	C	197670704	G	C	197670704	3	2	429	1	0	0	0	0	1	0	0	0	7863	942	33	2	1140	2	IQCG	3	197670704	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	187307	197670704	351726	199	84466											
HTT	3064	broad.mit.edu	37	chr4	3144492	3144492	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctatatttttgttattaGaatatatagaggctataacc	13	18	5	5	0	1	2	0	0	1	2	2	2	1	2	1	1	1	2	1	1	10	11			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:3144492G>C	ENST00000355072.5	+	23	3090		c.e23-1			NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTGTTATTAGAATATATAGA	0.259													20	28					0	0	0	0	C	3144492	G	C	3144492	5	2	429	1	0	0	0	0	0	0	1	0	7510	956	33	2	3035	2	HTT	4	3144492	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08		3144492	188009784	200	84467											
STK32B	55351	broad.mit.edu	37	chr4	5461941	5461941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaggcactgatgcccGgctttgtgcccaatgtgagt	9	10	12	10	1	1	3	1	2	0	1	1	3	1	3	2	2	2	2	2	2	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:5461941G>T	ENST00000282908.5	+	9	1317	c.895G>T	c.(895-897)Ggc>Tgc	p.G299C	STK32B_ENST00000512636.1_Missense_Mutation_p.G222C|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.G252C	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	299							ATP binding|metal ion binding|protein serine/threonine kinase activity			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						ACTGATGCCCGGCTTTGTGCC	0.587											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	55					3.86903e-22	4.04968e-22	1	0	T	5461941	G	T	5461941	3	4	429	1	0	0	0	0	1	0	0	0	15388	1116	39	3	929	3	STK32B	4	5461941	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2317449	5461941	185692335	201	84468											
C4orf6	10141	broad.mit.edu	37	chr4	5528039	5528039	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactgtctccggtgctcactCaactgcagtgcatcaatgaa	10	10	9	12	1	4	1	3	1	1	0	5	2	4	1	1	1	4	3	1	1	3	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:5528039C>G	ENST00000195455.2	+	2	438	c.263C>G	c.(262-264)tCa>tGa	p.S88*	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	88					nervous system development					large_intestine(1)|prostate(1)	2						GGTGCTCACTCAACTGCAGTG	0.433													9	39					0	0	0	0	G	5528039	C	G	5528039	4	3	429	1	0	0	0	0	0	1	0	0	2299	838	29	2	269	2	C4orf6	4	5528039	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	66098	5528039	185626237	202	84469											
CRMP1	1400	broad.mit.edu	37	chr4	5830225	5830225	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacacactcaccttattcctGattttgacgcgctggtacag	9	12	8	12	2	1	2	1	2	0	0	2	3	2	2	2	1	1	2	2	1	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:5830225G>C	ENST00000324989.7	-	12	1882	c.1794C>G	c.(1792-1794)atC>atG	p.I598M	EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.I484M|CRMP1_ENST00000512574.1_Missense_Mutation_p.I482M	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	484					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTTATTCCTGATTTTGACGC	0.572													10	24					0	0	0	0	C	5830225	G	C	5830225	3	2	429	1	0	0	0	0	1	0	0	0	3920	1280	45	2	278	2	CRMP1	4	5830225	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	302186	5830225	185324051	203	84470											
MAN2B2	23324	broad.mit.edu	37	chr4	6619118	6619118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccccaaaggccatcgagggGaagcccaggctgacctccgc	9	4	12	16	2	0	1	0	1	0	0	3	3	2	2	6	4	1	1	6	4	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:6619118G>A	ENST00000285599.3	+	17	2749	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	MAN2B2_ENST00000504248.1_Missense_Mutation_p.E854K	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	905					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCATCGAGGGGAAGCCCAGGC	0.582													10	30					0	0	0	0	A	6619118	G	A	6619118	3	1	429	1	0	0	0	0	1	0	0	0	9286	1175	41	2	2779	2	MAN2B2	4	6619118	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	788893	6619118	184535158	204	84471											
KLHL5	51088	broad.mit.edu	37	chr4	39064535	39064535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggccaatggcatccacctCtgaagtccctgcatttgagt	8	12	9	12	0	1	2	0	2	1	0	3	2	3	2	4	2	1	2	4	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:39064535C>T	ENST00000261425.3	+	2	415	c.263C>T	c.(262-264)tCt>tTt	p.S88F	KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261426.5_Missense_Mutation_p.S134F|KLHL5_ENST00000359687.2_Missense_Mutation_p.S134F|KLHL5_ENST00000381930.3_Missense_Mutation_p.S134F|KLHL5_ENST00000504108.1_Missense_Mutation_p.S134F	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	134						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GCATCCACCTCTGAAGTCCCT	0.463													37	45					0	0	0	0	T	39064535	C	T	39064535	3	4	429	1	0	0	0	0	1	0	0	0	8444	913	32	2	403	2	KLHL5	4	39064535	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	32445417	39064535	152089741	205	84472											
UGT2B11	10720	broad.mit.edu	37	chr4	70066419	70066419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgaattcttgataatttCataatattctctttatatct	11	22	3	5	0	4	2	1	2	3	0	5	2	4	2	0	0	0	1	0	0	6	11			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:70066419C>T	ENST00000446444.1	-	6	1337	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	443					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.M443I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTGATAATTTCATAATATTCT	0.358													17	53					0	0	0	0	T	70066419	C	T	70066419	3	4	429	1	0	0	0	0	1	0	0	0	17053	826	29	2	264	2	UGT2B11	4	70066419	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	31001884	70066419	121087857	206	84473											
ANKRD17	26057	broad.mit.edu	37	chr4	73986766	73986766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcagctgtatgcccattCatagctgctaacatcagagg	12	9	9	11	0	2	1	2	0	0	1	2	1	2	1	1	1	6	5	1	1	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:73986766C>G	ENST00000358602.4	-	20	3797	c.3681G>C	c.(3679-3681)atG>atC	p.M1227I	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.M1114I|ANKRD17_ENST00000330838.6_Missense_Mutation_p.M976I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1227					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATGCCCATTCATAGCTGCTA	0.428													29	89					0	0	0	0	G	73986766	C	G	73986766	3	3	429	1	0	0	0	0	1	0	0	0	646	826	29	2	4190	2	ANKRD17	4	73986766	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3920347	73986766	117167510	207	84474											
PPEF2	5470	broad.mit.edu	37	chr4	76812835	76812835	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggatgaagtgatccatGagatagctgaagaagtcatg	13	9	14	5	0	1	5	1	4	0	2	2	7	2	6	1	2	1	1	1	2	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:76812835G>T	ENST00000286719.7	-	4	563	c.207C>A	c.(205-207)ctC>ctA	p.L69L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	69					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGATCCATGAGATAGCTGA	0.517													91	187					1.15966e-41	1.22573e-41	1	0	T	76812835	G	T	76812835	2	4	429	1	0	0	0	0	0	0	0	1	12379	1277	45	2		2	PPEF2	4	76812835	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2826069	76812835	114341441	208	84475											
PTPN13	5783	broad.mit.edu	37	chr4	87655966	87655966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggatgcactgtgatgatGagacttccttattgctggca	11	12	11	7	0	0	3	0	3	0	1	1	5	1	4	1	2	2	3	1	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:87655966G>A	ENST00000436978.1	+	14	2569	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	PTPN13_ENST00000316707.6_Missense_Mutation_p.E697K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E697K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E697K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E697K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	697	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTGTGATGATGAGACTTCCTT	0.413													44	88					0	0	0	0	A	87655966	G	A	87655966	3	1	429	1	0	0	0	0	1	0	0	0	12862	1291	45	2	2139	2	PTPN13	4	87655966	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10843131	87655966	103498310	209	84476											
AFF1	4299	broad.mit.edu	37	chr4	87968316	87968316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagctttctcccttaatctCtttgccttccccagttcccc	4	15	5	17	0	2	0	0	0	2	0	6	1	4	1	6	1	2	2	6	1	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:87968316C>G	ENST00000307808.6	+	3	1028	c.608C>G	c.(607-609)tCt>tGt	p.S203C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.S210C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	203						nucleus	sequence-specific DNA binding transcription factor activity			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)		CCCTTAATCTCTTTGCCTTCC	0.527													50	128					0	0	0	0	G	87968316	C	G	87968316	3	3	429	1	0	0	0	0	1	0	0	0	356	913	32	2	660	2	AFF1	4	87968316	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	312350	87968316	103185960	210	84477											
HERC3	8916	broad.mit.edu	37	chr4	89599159	89599159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaatgtcttcatgcttctCaccctggagcctctgctggc	6	12	9	14	0	4	1	2	0	3	1	5	2	4	2	2	2	3	2	2	2	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:89599159C>T	ENST00000402738.1	+	19	2309	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	HERC3_ENST00000543130.1_Silent_p.L134L|HERC3_ENST00000264345.3_Silent_p.L690L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	690					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCATGCTTCTCACCCTGGAGC	0.527													16	44					0	0	0	0	T	89599159	C	T	89599159	2	4	429	1	0	0	0	0	0	0	0	1	7109	813	29	2		2	HERC3	4	89599159	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1630843	89599159	101555117	211	84478											
ADH4	127	broad.mit.edu	37	chr4	100052672	100052672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatggtttcagatccacCtgcacagtcaagggcaaaat	13	9	8	11	0	2	1	2	0	0	1	3	1	3	1	3	2	2	3	3	2	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:100052672C>T	ENST00000508393.1	-	7	1048	c.883G>A	c.(883-885)Ggt>Agt	p.G295S	ADH4_ENST00000423445.1_Missense_Mutation_p.G295S|ADH4_ENST00000505590.1_Missense_Mutation_p.G295S|ADH4_ENST00000265512.7_Missense_Mutation_p.G276S|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	276					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TCAGATCCACCTGCACAGTCA	0.388													12	40					0	0	0	0	T	100052672	C	T	100052672	3	4	429	1	0	0	0	0	1	0	0	0	310	681	24	4	332	4	ADH4	4	100052672	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	10453513	100052672	91101604	212	84479											
CENPE	1062	broad.mit.edu	37	chr4	104070394	104070394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcacttcctcataattttCattaagtttctgagccaact	10	18	3	10	0	4	1	3	1	1	0	5	1	5	1	2	0	2	1	2	0	3	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:104070394C>T	ENST00000265148.3	-	27	3657	c.3568G>A	c.(3568-3570)Gaa>Aaa	p.E1190K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1165K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1190					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCATAATTTTCATTAAGTTTC	0.308													23	27					0	0	0	0	T	104070394	C	T	104070394	3	4	429	1	0	0	0	0	1	0	0	0	3259	835	29	2	4629	2	CENPE	4	104070394	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4017722	104070394	87083882	213	84480											
GSTCD	79807	broad.mit.edu	37	chr4	106763287	106763287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccaccccaacgaaggctCataggtatgtgttttcacag	10	10	8	13	1	2	0	2	0	0	0	3	1	3	0	3	2	1	3	3	2	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:106763287C>T	ENST00000515279.1	+	11	1981	c.1761C>T	c.(1759-1761)ctC>ctT	p.L587L	GSTCD_ENST00000394730.3_Silent_p.L500L|GSTCD_ENST00000394728.3_Silent_p.L587L|GSTCD_ENST00000360505.5_Silent_p.L587L|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	587						cytoplasm	rRNA methyltransferase activity	p.L587L(1)|p.L500L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AACGAAGGCTCATAGGTATGT	0.408													8	31					0	0	0	0	T	106763287	C	T	106763287	2	4	429	1	0	0	0	0	0	0	0	1	6885	813	29	2		2	GSTCD	4	106763287	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2692893	106763287	84390989	214	84481											
SEC24B	10427	broad.mit.edu	37	chr4	110459742	110459742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccattaagtccaatccttCacatagtaaagtaagtactt	15	12	5	9	0	1	0	1	0	0	0	3	1	3	0	3	0	1	3	3	0	7	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:110459742C>T	ENST00000265175.5	+	23	3737	c.3682C>T	c.(3682-3684)Cac>Tac	p.H1228Y	SEC24B_ENST00000504968.2_Missense_Mutation_p.H1258Y|SEC24B_ENST00000399100.2_Missense_Mutation_p.H1193Y	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1228					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|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TCCAATCCTTCACATAGTAAA	0.363													15	57					0	0	0	0	T	110459742	C	T	110459742	3	4	429	1	0	0	0	0	1	0	0	0	14082	826	29	2	3772	2	SEC24B	4	110459742	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3696455	110459742	80694534	215	84482											
EGF	1950	broad.mit.edu	37	chr4	110932483	110932483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtaatggagcgaagctttCatatgccctcctatgggaca	11	10	11	9	1	1	0	1	0	0	0	2	3	2	2	2	3	3	2	2	3	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:110932483C>T	ENST00000265171.5	+	24	3941	c.3496C>T	c.(3496-3498)Cat>Tat	p.H1166Y	EGF_ENST00000509793.1_Missense_Mutation_p.H1124Y|EGF_ENST00000503392.1_Missense_Mutation_p.H1125Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1166					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			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)	GCGAAGCTTTCATATGCCCTC	0.552													35	70					0	0	0	0	T	110932483	C	T	110932483	3	4	429	1	0	0	0	0	1	0	0	0	4998	826	29	2	3590	2	EGF	4	110932483	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	472741	110932483	80221793	216	84483											
PRSS12	8492	broad.mit.edu	37	chr4	119273873	119273873	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacgaagcgggcgagcgtCatggtgccagcgctgcgggg	7	4	19	11	6	1	0	1	0	0	0	1	2	1	0	1	4	6	2	1	4	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:119273873C>T	ENST00000296498.3	-	1	285	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	1						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGGCGAGCGTCATGGTGCCAG	0.672													16	30					0	0	0	0	T	119273873	C	T	119273873	1	4	429	1	0	0	0	0	0	0	0	0	12694	826	29	2		2	PRSS12	4	119273873	Translation_Start_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8341390	119273873	71880403	217	84484											
FGF2	2247	broad.mit.edu	37	chr4	123813550	123813550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaatgtctgctaagagctGattttaatggccacatctaa	12	13	7	9	0	2	2	0	1	2	1	3	2	3	2	2	1	2	2	2	1	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:123813550G>A	ENST00000264498.3	+	3	934	c.866G>A	c.(865-867)tGa>tAa	p.*289*		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	0					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	GCTAAGAGCTGATTTTAATGG	0.353													39	62					0	0	0	0	A	123813550	G	A	123813550	2	1	429	1	0	0	0	0	0	0	0	1	5893	1285	45	2		2	FGF2	4	123813550	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4539677	123813550	67340726	218	84485											
CCRN4L	25819	broad.mit.edu	37	chr4	139966178	139966178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggccgacagttctgcatCgctgttacccatctaaaagc	10	10	8	13	2	3	0	1	0	2	0	4	1	3	0	2	1	3	4	2	1	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:139966178C>T	ENST00000280614.2	+	3	1039	c.846C>T	c.(844-846)atC>atT	p.I282I	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	282					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					AGTTCTGCATCGCTGTTACCC	0.532													31	68					0	0	0	0	T	139966178	C	T	139966178	2	4	429	1	0	0	0	0	0	0	0	1	2980	874	31	1		1	CCRN4L	4	139966178	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	16152628	139966178	51188098	219	84486											
TDO2	6999	broad.mit.edu	37	chr4	156841121	156841121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgtgatagctcctacttCagcagtgatgaatcagatta	12	13	8	8	0	2	4	2	3	0	1	3	4	3	4	1	0	4	2	1	0	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:156841121C>T	ENST00000536354.2	+	12	1264	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	400					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	GCTCCTACTTCAGCAGTGATG	0.348													14	29					0	0	0	0	T	156841121	C	T	156841121	2	4	429	1	0	0	0	0	0	0	0	1	15821	825	29	2		2	TDO2	4	156841121	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	16874943	156841121	34313155	220	84487											
STOX2	56977	broad.mit.edu	37	chr4	184931711	184931711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagcgcttgcagccttttgGagccaggaaaaccacccgag	10	6	11	14	2	0	0	0	0	0	0	0	3	0	2	5	2	5	2	5	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:184931711G>C	ENST00000308497.4	+	3	3155	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q	STOX2_ENST00000438269.1_Missense_Mutation_p.E574Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	574					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGCCTTTTGGAGCCAGGAAA	0.493													12	18					0	0	0	0	C	184931711	G	C	184931711	3	2	429	1	0	0	0	0	1	0	0	0	15410	1175	41	2	1730	2	STOX2	4	184931711	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	28090590	184931711	6222565	221	84488											
SORBS2	8470	broad.mit.edu	37	chr4	186536298	186536298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagacagtatctcctttCttaaatgacaactccctgga	12	13	6	10	0	2	2	0	1	2	1	4	3	3	3	2	1	1	2	2	1	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:186536298C>T	ENST00000431808.1	-	17	3218	c.2655G>A	c.(2653-2655)aaG>aaA	p.K885K	SORBS2_ENST00000284776.7_Silent_p.K885K|SORBS2_ENST00000449407.2_Silent_p.K429K|SORBS2_ENST00000448662.2_Silent_p.K446K|SORBS2_ENST00000437304.2_Silent_p.K609K|SORBS2_ENST00000418609.1_Silent_p.K789K|SORBS2_ENST00000393528.3_Silent_p.K451K|SORBS2_ENST00000355634.5_Silent_p.K985K|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Silent_p.K516K			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	885	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TATCTCCTTTCTTAAATGACA	0.433													12	27					0	0	0	0	T	186536298	C	T	186536298	2	4	429	1	0	0	0	0	0	0	0	1	15016	912	32	2		2	SORBS2	4	186536298	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1604587	186536298	4617978	222	84489											
FAT1	2195	broad.mit.edu	37	chr4	187630533	187630533	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacgctgtatgaggtgggtGagaataacggtctcaagtca	13	9	13	6	2	2	2	2	2	1	1	3	3	2	2	0	3	2	2	0	3	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:187630533G>C	ENST00000441802.2	-	2	658	c.449C>G	c.(448-450)tCa>tGa	p.S150*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	150	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAGGTGGGTGAGAATAACGG	0.463										HNSCC(5;0.00058)			69	124					0	0	0	0	C	187630533	G	C	187630533	4	2	429	1	0	0	0	0	0	1	0	0	5734	1294	45	2	13421	2	FAT1	4	187630533	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1094235	187630533	3523743	223	84490											
CCT5	22948	broad.mit.edu	37	chr5	10264799	10264799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcatgtcatagaaaccttGattggcaaaaagcaacagat	17	8	8	8	0	1	3	1	1	0	2	1	3	1	3	1	1	4	3	1	1	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:10264799G>C	ENST00000280326.4	+	11	1950	c.1530G>C	c.(1528-1530)ttG>ttC	p.L510F	CCT5_ENST00000506600.1_Missense_Mutation_p.L417F|CCT5_ENST00000503026.1_Missense_Mutation_p.L489F|CCT5_ENST00000515390.1_Missense_Mutation_p.L455F|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Missense_Mutation_p.L472F	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	510					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TAGAAACCTTGATTGGCAAAA	0.338													37	71					0	0	0	0	C	10264799	G	C	10264799	3	2	429	1	0	0	0	0	1	0	0	0	2985	1281	45	2	1572	2	CCT5	5	10264799	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		10264799	170650461	224	84491											
C5orf22	55322	broad.mit.edu	37	chr5	31535864	31535864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccagagaattaagtattGaaaattggattatgcctgca	14	14	8	5	0	0	2	0	1	0	1	1	4	1	3	2	1	2	2	2	1	6	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:31535864G>C	ENST00000325366.9	+	3	368	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	81										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						ATTAAGTATTGAAAATTGGAT	0.348													8	10					0	0	0	0	C	31535864	G	C	31535864	3	2	429	1	0	0	0	0	1	0	0	0	2306	1291	45	2	251	2	C5orf22	5	31535864	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	21271065	31535864	149379396	225	84492											
MTMR12	54545	broad.mit.edu	37	chr5	32312866	32312866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgcggcgccccctcacctCagggcgtacgtacgacacga	7	5	12	17	7	2	0	2	0	0	0	2	2	2	0	3	2	3	2	3	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:32312866C>T	ENST00000382142.3	-	1	249	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MTMR12_ENST00000264934.5_Missense_Mutation_p.E27K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E27K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	27						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ccccTCACCTCAGGGCGTACG	0.766													15	26					0	0	0	0	T	32312866	C	T	32312866	3	4	429	1	0	0	0	0	1	0	0	0	10011	835	29	2	2228	2	MTMR12	5	32312866	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	777002	32312866	148602394	226	84493											
NIPBL	25836	broad.mit.edu	37	chr5	36985872	36985872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctgatagttcaaaaactGataaactagaacgaaaacac	21	8	5	7	1	2	3	1	2	1	1	2	4	2	3	0	0	4	1	0	0	10	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:36985872G>A	ENST00000282516.8	+	10	3089	c.2590G>A	c.(2590-2592)Gat>Aat	p.D864N	NIPBL_ENST00000448238.2_Missense_Mutation_p.D864N|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	864					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCAAAAACTGATAAACTAGA	0.423													5	26					0	0	0	0	A	36985872	G	A	36985872	3	1	429	1	0	0	0	0	1	0	0	0	10498	1290	45	2	2624	2	NIPBL	5	36985872	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4673006	36985872	143929388	227	84494											
OSMR	9180	broad.mit.edu	37	chr5	38933203	38933203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctataaccaggcagcttCtgactctggctcttgtggcc	7	11	10	13	0	3	1	0	1	3	0	3	2	3	1	3	3	2	3	3	3	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:38933203C>T	ENST00000274276.3	+	18	2999	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	866					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAGGCAGCTTCTGACTCTGGC	0.463													77	133					0	0	0	0	T	38933203	C	T	38933203	3	4	429	1	0	0	0	0	1	0	0	0	11363	913	32	2	2701	2	OSMR	5	38933203	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1947331	38933203	141982057	228	84495											
TTC33	23548	broad.mit.edu	37	chr5	40716372	40716372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgctgaaactgtcttctCtttctcagcaatagctgcac	9	15	6	11	0	3	1	1	1	3	0	5	1	3	1	0	0	5	4	0	0	3	4	rs141546911		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:40716372C>G	ENST00000337702.4	-	5	816	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	222							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						ACTGTCTTCTCTTTCTCAGCA	0.423													15	33					0	0	0	0	G	40716372	C	G	40716372	3	3	429	1	0	0	0	0	1	0	0	0	16798	922	32	2	128	2	TTC33	5	40716372	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1783169	40716372	140198888	229	84496											
NNT	23530	broad.mit.edu	37	chr5	43656905	43656905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttcagtgtctgctctctCtgctgtcatggtaagaagtc	6	14	12	9	0	5	1	2	0	3	1	7	1	5	1	0	2	2	4	0	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:43656905C>G	ENST00000264663.5	+	16	2665	c.2444C>G	c.(2443-2445)tCt>tGt	p.S815C	NNT_ENST00000344920.4_Missense_Mutation_p.S815C|NNT_ENST00000512996.2_Missense_Mutation_p.S684C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	815					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TCTGCTCTCTCTGCTGTCATG	0.423													27	67					0	0	0	0	G	43656905	C	G	43656905	3	3	429	1	0	0	0	0	1	0	0	0	10580	913	32	2	2502	2	NNT	5	43656905	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2940533	43656905	137258355	230	84497											
DHX29	54505	broad.mit.edu	37	chr5	54558484	54558484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtataagagccatccatGagtttgcaaatctcgattta	12	13	8	8	1	1	2	0	1	1	1	3	3	2	2	2	1	2	3	2	1	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:54558484G>C	ENST00000251636.5	-	24	3950	c.3802C>G	c.(3802-3804)Cat>Gat	p.H1268D	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1268							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGCCATCCATGAGTTTGCAAA	0.423													27	88					0	0	0	0	C	54558484	G	C	54558484	3	2	429	1	0	0	0	0	1	0	0	0	4540	1290	45	2	323	2	DHX29	5	54558484	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10901579	54558484	126356776	231	84498											
PIK3R1	5295	broad.mit.edu	37	chr5	67589627	67589627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaaaagtcgagaatatGatagattatatgaagaatat	22	10	8	1	1	0	6	0	2	0	4	1	7	0	6	0	0	0	0	0	0	12	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:67589627G>A	ENST00000521381.1	+	11	2006	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	PIK3R1_ENST00000523872.1_Missense_Mutation_p.D101N|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D464N|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D164N|PIK3R1_ENST00000396611.1_Missense_Mutation_p.D464N|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D194N|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D464N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	464					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)|p.D464H(1)|p.E462_R465delEYDR(1)|p.Y463_L466del(1)|p.T454_D464del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCGAGAATATGATAGATTATA	0.294			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			4	25					0	0	0	0	A	67589627	G	A	67589627	3	1	429	1	0	0	0	0	1	0	0	0	11990	1290	45	2	1558	2	PIK3R1	5	67589627	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	13031143	67589627	113325633	232	84499											
CCNB1	891	broad.mit.edu	37	chr5	68470931	68470931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttcggagagcatctaaGattggagaggtacaggtttc	10	12	12	7	1	1	3	0	0	1	3	4	5	2	3	1	4	2	3	1	4	2	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:68470931G>C	ENST00000256442.5	+	6	1186	c.933G>C	c.(931-933)aaG>aaC	p.K311N		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	311					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GAGCATCTAAGATTGGAGAGG	0.453													34	85					0	0	0	0	C	68470931	G	C	68470931	3	2	429	1	0	0	0	0	1	0	0	0	2940	933	33	2	955	2	CCNB1	5	68470931	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	881304	68470931	112444329	233	84500											
BDP1	55814	broad.mit.edu	37	chr5	70785335	70785335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatgctcagacagttgaaGaagagtctctgaccttatca	13	10	10	8	0	3	5	2	2	1	3	4	6	3	6	1	1	1	2	1	1	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:70785335G>C	ENST00000358731.4	+	10	1581	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	440	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACAGTTGAAGAAGAGTCTCT	0.413													5	50					0	0	0	0	C	70785335	G	C	70785335	3	2	429	1	0	0	0	0	1	0	0	0	1399	943	33	2	1356	2	BDP1	5	70785335	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2314404	70785335	110129925	234	84501											
PDE8B	8622	broad.mit.edu	37	chr5	76627240	76627240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcagatcggatgaccatGaagaggcgtcagtccttcct	9	9	12	11	2	1	4	1	2	0	2	4	5	3	5	3	2	1	2	3	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:76627240G>A	ENST00000264917.5	+	5	709	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	PDE8B_ENST00000340978.3_Missense_Mutation_p.E222K|PDE8B_ENST00000346042.3_Missense_Mutation_p.E222K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E222K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E202K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	222					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGATGACCATGAAGAGGCGTC	0.502													6	176					0	0	0	0	A	76627240	G	A	76627240	3	1	429	1	0	0	0	0	1	0	0	0	11725	1291	45	2	682	2	PDE8B	5	76627240	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5841905	76627240	104288020	235	84502											
VCAN	1462	broad.mit.edu	37	chr5	82808036	82808036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaactccaggcggcatggaGgaacggctttgaccagtgcg	9	6	16	10	3	0	1	0	1	0	0	1	4	1	4	2	6	3	2	2	6	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:82808036G>C	ENST00000265077.3	+	6	1428	c.863G>C	c.(862-864)aGg>aCg	p.R288T	VCAN_ENST00000513984.1_Missense_Mutation_p.R288T|VCAN_ENST00000512590.2_Missense_Mutation_p.R240T|VCAN_ENST00000342785.4_Missense_Mutation_p.R288T|VCAN_ENST00000502527.2_Missense_Mutation_p.R288T|VCAN_ENST00000343200.5_Missense_Mutation_p.R288T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	288	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCGGCATGGAGGAACGGCTTT	0.602													8	29					0	0	0	0	C	82808036	G	C	82808036	3	2	429	1	0	0	0	0	1	0	0	0	17234	1000	35	4	881	4	VCAN	5	82808036	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6180796	82808036	98107224	236	84503											
TMEM161B	153396	broad.mit.edu	37	chr5	87492275	87492275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactggtaaggtagagataGattctggataaataccccag	14	9	10	8	0	1	2	0	0	1	2	1	4	1	3	3	3	1	2	3	3	6	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:87492275G>A	ENST00000296595.6	-	12	1341	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F	TMEM161B_ENST00000506536.1_Silent_p.L192L|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S197F|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.S395F|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S406F	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	406						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GGTAGAGATAGATTCTGGATA	0.318													15	30					0	0	0	0	A	87492275	G	A	87492275	3	1	429	1	0	0	0	0	1	0	0	0	16171	942	33	2	250	2	TMEM161B	5	87492275	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4684239	87492275	93422985	237	84504											
GPR98	84059	broad.mit.edu	37	chr5	90012484	90012484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagtgaattcctcaaatGaatctaaagatctgactcct	15	11	6	9	0	3	5	1	3	2	2	5	5	5	5	2	0	0	0	2	0	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:90012484G>A	ENST00000405460.2	+	43	9481	c.9385G>A	c.(9385-9387)Gaa>Aaa	p.E3129K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3129					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCCTCAAATGAATCTAAAGA	0.383													12	26					0	0	0	0	A	90012484	G	A	90012484	3	1	429	1	0	0	0	0	1	0	0	0	6771	1291	45	2	9555	2	GPR98	5	90012484	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2520209	90012484	90902776	238	84505											
SPATA9	83890	broad.mit.edu	37	chr5	94994347	94994347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatttgctcattcatttCagctgattggtcaaacacag	11	14	7	9	0	5	2	5	1	0	1	5	2	5	2	0	1	3	2	0	1	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:94994347C>T	ENST00000274432.8	-	5	886	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	249					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TCATTCATTTCAGCTGATTGG	0.363													9	25					0	0	0	0	T	94994347	C	T	94994347	3	4	429	1	0	0	0	0	1	0	0	0	15106	835	29	2	23	2	SPATA9	5	94994347	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4981863	94994347	85920913	239	84506											
RIOK2	55781	broad.mit.edu	37	chr5	96518855	96518855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagaccctgaagtcatctCggctcatgtaacgcaacttg	11	10	8	12	2	4	2	3	1	1	1	5	2	4	2	1	1	2	3	1	1	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:96518855C>T	ENST00000283109.3	-	1	109	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	CTD-2215E18.1_ENST00000509481.1_Missense_Mutation_p.S59L|RIOK2_ENST00000508447.1_Missense_Mutation_p.R14Q	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	14							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		GAAGTCATCTCGGCTCATGTA	0.562													48	141					0	0	0	0	T	96518855	C	T	96518855	3	4	429	1	0	0	0	0	1	0	0	0	13463	884	31	1	1685	1	RIOK2	5	96518855	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1524508	96518855	84396405	240	84507											
DCP2	167227	broad.mit.edu	37	chr5	112343710	112343710	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaagaacaaatgggcttCagccagcaaagcagcagaat	19	4	10	8	0	1	3	1	0	0	3	1	3	1	3	1	1	5	4	1	1	6	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:112343710C>T	ENST00000389063.2	+	9	1216	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	DCP2_ENST00000515408.1_Intron|DCP2_ENST00000543319.1_Nonsense_Mutation_p.Q129*	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	340					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		AAATGGGCTTCAGCCAGCAAA	0.383													23	57					0	0	0	0	T	112343710	C	T	112343710	4	4	429	1	0	0	0	0	0	1	0	0	4332	827	29	2	1052	2	DCP2	5	112343710	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	15824855	112343710	68571550	241	84508											
YTHDC2	64848	broad.mit.edu	37	chr5	112876706	112876706	+	Missense_Mutation	SNP	C	C	G																															ttacagaatggtactcagctCaagaaaatagtttcaagcct																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:112876706C>G	ENST00000161863.4	+	9	1465	c.1252C>G	c.(1252-1254)Caa>Gaa	p.Q418E	YTHDC2_ENST00000515883.1_Missense_Mutation_p.Q418E	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	418							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTACTCAGCTCAAGAAAATAG	0.348													18	28					0	0	0	0	G	112876706	C	G	112876706	3	3	429	1	0	0	0	0	1	0	0	0	17593	827	29	2	1286	2	YTHDC2	5	112876706	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	532996	112876706	68038554	242	84509	1061	2									
YTHDC2	64848	broad.mit.edu	37	chr5	112876709	112876709	+	Missense_Mutation	SNP	G	G	C																															cagaatggtactcagctcaaGaaaatagtttcaagcctgaa																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:112876709G>C	ENST00000161863.4	+	9	1468	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E419Q	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	419							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTCAGCTCAAGAAAATAGTTT	0.353													20	30					0	0	0	0	C	112876709	G	C	112876709	3	2	429	1	0	0	0	0	1	0	0	0	17593	943	33	2	1289	2	YTHDC2	5	112876709	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3	112876709	68038551	243	84510	1061	2									
DDX46	9879	broad.mit.edu	37	chr5	134130685	134130685	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcaggagtgtggtttgctCagatgtggagcaacaagtgg	10	9	17	5	0	1	1	1	0	0	1	1	3	1	3	0	5	3	4	0	5	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:134130685C>G	ENST00000452510.2	+	14	1930	c.1772C>G	c.(1771-1773)tCa>tGa	p.S591*	DDX46_ENST00000354283.4_Nonsense_Mutation_p.S591*	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	591					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGTTTGCTCAGATGTGGAG	0.443													49	102					0	0	0	0	G	134130685	C	G	134130685	4	3	429	1	0	0	0	0	0	1	0	0	4396	838	29	2	1826	2	DDX46	5	134130685	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	21253976	134130685	46784575	244	84511											
C5orf24	134553	broad.mit.edu	37	chr5	134190687	134190687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagagctgctgatcagtttGacatatattcctcccagcaa	11	12	8	10	0	1	3	1	3	0	1	3	4	3	3	2	0	3	4	2	0	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:134190687G>C	ENST00000394976.3	+	2	325	c.97G>C	c.(97-99)Gac>Cac	p.D33H	C5orf24_ENST00000338051.4_Missense_Mutation_p.D33H|C5orf24_ENST00000504727.1_Missense_Mutation_p.D33H|C5orf24_ENST00000435259.2_Missense_Mutation_p.D33H	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	33										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGATCAGTTTGACATATATTC	0.468													59	124					0	0	0	0	C	134190687	G	C	134190687	3	2	429	1	0	0	0	0	1	0	0	0	2308	1290	45	2	99	2	C5orf24	5	134190687	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	60002	134190687	46724573	245	84512											
EGR1	1958	broad.mit.edu	37	chr5	137802774	137802774	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccaccttccccacgccGaacactgacattttccctga	9	8	5	19	2	0	2	0	2	0	0	2	3	2	2	6	0	1	1	6	0	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:137802774G>T	ENST00000239938.4	+	2	908	c.636G>T	c.(634-636)ccG>ccT	p.P212P		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	212					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCACGCCGAACACTGACA	0.667													70	225					3.41413e-29	3.59805e-29	1	0	T	137802774	G	T	137802774	2	4	429	1	0	0	0	0	0	0	0	1	5007	1045	37	3		3	EGR1	5	137802774	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3612087	137802774	43112486	246	84513											
EGR1	1958	broad.mit.edu	37	chr5	137802793	137802793	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacactgacattttccctGagccacaaagccaggccttc	11	8	7	15	1	0	2	0	2	0	0	2	3	1	2	4	1	3	0	4	1	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:137802793G>T	ENST00000239938.4	+	2	927	c.655G>T	c.(655-657)Gag>Tag	p.E219*		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	219			E -> D (in dbSNP:rs28365165).		cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E219K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATTTTCCCTGAGCCACAAAG	0.642													57	204					7.41606e-26	7.78505e-26	1	0	T	137802793	G	T	137802793	4	4	429	1	0	0	0	0	0	1	0	0	5007	1291	45	2	661	2	EGR1	5	137802793	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	19	137802793	43112467	247	84514											
MATR3	9782	broad.mit.edu	37	chr5	138651777	138651777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttactaggggtgatccattCatgttgcagcagtctacaaa	11	13	9	8	0	2	1	1	1	1	0	3	1	3	1	1	2	4	3	1	2	4	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:138651777C>G	ENST00000394800.2	+	9	1578	c.1029C>G	c.(1027-1029)ttC>ttG	p.F343L	MATR3_ENST00000503811.1_Missense_Mutation_p.F55L|MATR3_ENST00000510056.1_Missense_Mutation_p.F343L|MATR3_ENST00000502929.1_Missense_Mutation_p.F343L|MATR3_ENST00000502499.1_Missense_Mutation_p.F5L|MATR3_ENST00000394805.3_Missense_Mutation_p.F343L|MATR3_ENST00000504203.1_Missense_Mutation_p.F5L|MATR3_ENST00000361059.2_Missense_Mutation_p.F343L|MATR3_ENST00000509990.1_Missense_Mutation_p.F343L			P43243	MATR3_HUMAN	matrin 3	343						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGATCCATTCATGTTGCAGC	0.408													4	81					0	0	0	0	G	138651777	C	G	138651777	3	3	429	1	0	0	0	0	1	0	0	0	9406	825	29	2	1043	2	MATR3	5	138651777	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	848984	138651777	42263483	248	84515											
PCDHA7	56141	broad.mit.edu	37	chr5	140215185	140215185	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcaagaattactattCattggtgctggacagcgctc	10	12	8	11	1	2	1	2	0	0	1	3	2	2	2	1	2	3	2	1	2	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:140215185C>A	ENST00000525929.1	+	1	1217	c.1217C>A	c.(1216-1218)tCa>tAa	p.S406*	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.S406*|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTACTATTCATTGGTGCTG	0.587													80	153					1.4051e-37	1.4837e-37	1	0	A	140215185	C	A	140215185	4	1	429	1	0	0	0	0	0	1	0	0	11600	838	29	2	1219	2	PCDHA7	5	140215185	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1563408	140215185	40700075	249	84516											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730835	140730835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatagaaattgttgacgaGaatgacaatgccccagaggt	16	8	10	7	1	0	5	0	2	0	3	0	6	0	5	2	1	1	1	2	1	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:140730835G>C	ENST00000523390.1	+	1	1008	c.1008G>C	c.(1006-1008)gaG>gaC	p.E336D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTGACGAGAATGACAATG	0.423													17	32					0	0	0	0	C	140730835	G	C	140730835	3	2	429	1	0	0	0	0	1	0	0	0	11633	933	33	2	1010	2	PCDHGB1	5	140730835	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	515650	140730835	40184425	250	84517											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754080	140754080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aattggaagtgaaaattctcGaaaacgcagctccatcctct	14	10	7	10	2	2	1	0	1	2	0	5	3	4	2	2	1	2	2	2	1	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:140754080G>C	ENST00000517434.1	+	1	430	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATTCTCGAAAACGCAGC	0.423													29	46					0	0	0	0	C	140754080	G	C	140754080	3	2	429	1	0	0	0	0	1	0	0	0	11629	1059	37	3	432	3	PCDHGA6	5	140754080	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	23245	140754080	40161180	251	84518											
FBXO38	81545	broad.mit.edu	37	chr5	147803613	147803613	+	Silent	SNP	G	G	A																															gatggagaggtggtggccgaGagtggaaataatactccagc																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:147803613G>A	ENST00000340253.5	+	13	1839	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E	FBXO38_ENST00000394370.3_Silent_p.E557E|FBXO38_ENST00000513826.1_Silent_p.E557E|FBXO38_ENST00000296701.6_Silent_p.E557E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	557						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGCCGAGAGTGGAAATA	0.403													28	45					0	0	0	0	A	147803613	G	A	147803613	2	1	429	1	0	0	0	0	0	0	0	1	5791	933	33	2		2	FBXO38	5	147803613	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7049533	147803613	33111647	252	84519	1062	2									
FBXO38	81545	broad.mit.edu	37	chr5	147803618	147803618	+	Missense_Mutation	SNP	G	G	A																															agaggtggtggccgagagtgGaaataatactccagctcaca																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:147803618G>A	ENST00000340253.5	+	13	1844	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	FBXO38_ENST00000394370.3_Missense_Mutation_p.G559E|FBXO38_ENST00000513826.1_Missense_Mutation_p.G559E|FBXO38_ENST00000296701.6_Missense_Mutation_p.G559E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	559						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGAGAGTGGAAATAATACT	0.403													30	48					0	0	0	0	A	147803618	G	A	147803618	3	1	429	1	0	0	0	0	1	0	0	0	5791	1174	41	2	1722	2	FBXO38	5	147803618	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5	147803618	33111642	253	84520	1062	2									
FBXO38	81545	broad.mit.edu	37	chr5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcttccctgaagccactcGaagtgaagaagacttaaaga	15	9	8	9	1	1	5	0	2	1	3	3	6	2	5	2	0	1	0	2	0	6	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1070						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353													15	38					0	0	0	0	A	147820025	G	A	147820025	3	1	429	1	0	0	0	0	1	0	0	0	5791	1058	37	1	3283	1	FBXO38	5	147820025	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	16407	147820025	33095235	254	84521											
PDGFRB	5159	broad.mit.edu	37	chr5	149506119	149506119	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggatgataagggagatGatggtgagcaccaccagggc	13	6	16	6	0	0	5	0	4	0	1	0	7	0	6	2	4	1	1	2	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:149506119G>T	ENST00000261799.4	-	11	2107	c.1638C>A	c.(1636-1638)atC>atA	p.I546I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	546					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGGGAGATGATGGTGAGCA	0.542			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								4	60					2.56e-06	2.60602e-06	1	0	T	149506119	G	T	149506119	2	4	429	1	0	0	0	0	0	0	0	1	11733	1280	45	2		2	PDGFRB	5	149506119	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1686094	149506119	31409141	255	84522											
SLC6A7	6534	broad.mit.edu	37	chr5	149589169	149589169	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attgcagaggaggaggagtcGatgatgtgaggcaggaggca	12	6	19	4	1	0	3	0	2	0	1	1	8	0	7	0	6	1	3	0	6	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:149589169G>C	ENST00000230671.2	+	14	2273	c.1902G>C	c.(1900-1902)tcG>tcC	p.S634S	SLC6A7_ENST00000524041.1_Intron	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	634						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AGGAGGAGTCGATGATGTGAG	0.602													4	16					0	0	0	0	C	149589169	G	C	149589169	2	2	429	1	0	0	0	0	0	0	0	1	14777	1045	37	3		3	SLC6A7	5	149589169	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	83050	149589169	31326091	256	84523											
CAMK2A	815	broad.mit.edu	37	chr5	149602274	149602274	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgaccccagcctggtccctCagctgtaagacacacacggg	9	5	11	16	2	1	1	1	0	0	1	2	2	2	1	4	2	2	2	4	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:149602274C>G	ENST00000348628.6	-	18	2101	c.1436G>C	c.(1435-1437)tGa>tCa	p.*479S	SLC6A7_ENST00000524041.1_3'UTR|CAMK2A_ENST00000398376.3_Nonstop_Mutation_p.*490S|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	0					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGTCCCTCAGCTGTAAGA	0.602													3	31					0	0	0	0	G	149602274	C	G	149602274	4	3	429	1	0	0	0	0	0	0	0	0	2624	837	29	2	4	2	CAMK2A	5	149602274	Nonstop_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	13105	149602274	31312986	257	84524											
GLRA1	2741	broad.mit.edu	37	chr5	151231080	151231080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatgagaggatgacaatGagcaggctgggaatatacat	15	8	12	6	0	0	3	0	3	0	1	1	6	1	5	1	3	2	2	1	3	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:151231080G>A	ENST00000274576.4	-	7	1075	c.783C>T	c.(781-783)ctC>ctT	p.L261L	GLRA1_ENST00000545569.1_Silent_p.L178L|GLRA1_ENST00000455880.2_Silent_p.L261L|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	261					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGATGACAATGAGCAGGCTGG	0.522													36	75					0	0	0	0	A	151231080	G	A	151231080	2	1	429	1	0	0	0	0	0	0	0	1	6505	1277	45	2		2	GLRA1	5	151231080	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1628806	151231080	29684180	258	84525											
LARP1	23367	broad.mit.edu	37	chr5	154188023	154188023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttctttcccatcagagcgGaaacgcttgggcattggcca	8	11	10	12	2	2	1	1	0	1	1	3	2	3	2	2	3	2	2	2	3	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:154188023G>A	ENST00000336314.4	+	16	2496	c.2472G>A	c.(2470-2472)cgG>cgA	p.R824R		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	901							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATCAGAGCGGAAACGCTTGG	0.498													10	35					0	0	0	0	A	154188023	G	A	154188023	2	1	429	1	0	0	0	0	0	0	0	1	8681	1161	41	2		2	LARP1	5	154188023	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2956943	154188023	26727237	259	84526											
KIF4B	285643	broad.mit.edu	37	chr5	154393474	154393474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcactgcgttgtcgccctCtggtccccaaagagattagc	7	10	11	13	2	1	1	0	0	1	1	3	2	2	1	3	2	2	2	3	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:154393474C>G	ENST00000435029.4	+	1	215	c.55C>G	c.(55-57)Ctg>Gtg	p.L19V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	19	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGTCGCCCTCTGGTCCCCAA	0.532													34	63					0	0	0	0	G	154393474	C	G	154393474	3	3	429	1	0	0	0	0	1	0	0	0	8355	912	32	2	57	2	KIF4B	5	154393474	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	205451	154393474	26521786	260	84527											
GABRB2	2561	broad.mit.edu	37	chr5	160972244	160972244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatactcaccatattgacttCagaaaccatatcgatgctgg	14	11	6	10	1	2	2	2	1	0	1	3	3	2	2	2	1	3	1	2	1	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:160972244C>T	ENST00000274547.2	-	4	443	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GABRB2_ENST00000517901.1_Missense_Mutation_p.E13K|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000353437.6_Missense_Mutation_p.E76K|GABRB2_ENST00000520240.1_Missense_Mutation_p.E76K|GABRB2_ENST00000393959.1_Missense_Mutation_p.E76K	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	76					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATATTGACTTCAGAAACCATA	0.478													4	18					0	0	0	0	T	160972244	C	T	160972244	3	4	429	1	0	0	0	0	1	0	0	0	6215	835	29	2	1344	2	GABRB2	5	160972244	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6578770	160972244	19943016	261	84528											
DOCK2	1794	broad.mit.edu	37	chr5	169125439	169125439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaagaaaagcagcacttCattccttttcacccgtaaga	14	10	7	10	1	2	3	2	1	0	2	3	4	3	3	2	0	2	3	2	0	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:169125439C>T	ENST00000256935.8	+	11	1121	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	347					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCAGCACTTCATTCCTTTTC	0.418													13	30					0	0	0	0	T	169125439	C	T	169125439	2	4	429	1	0	0	0	0	0	0	0	1	4723	825	29	2		2	DOCK2	5	169125439	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8153195	169125439	11789821	262	84529											
HMP19	51617	broad.mit.edu	37	chr5	173473844	173473844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccgtccctctcatcaCtcccttggaggttaatcact	8	11	6	16	1	3	1	3	0	1	1	6	2	5	2	4	2	0	1	4	2	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:173473844C>T	ENST00000303177.3	+	2	348	c.86C>T	c.(85-87)aCt>aTt	p.T29I	NSG2_ENST00000521585.1_Missense_Mutation_p.T29I	NM_015980.4	NP_057064.1																					CCTCTCATCACTCCCTTGGAG	0.532													65	137					0	0	0	0	T	173473844	C	T	173473844	3	4	429	1	0	0	0	0	1	0	0	0	7295	565	20	4	88	4	HMP19	5	173473844	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4348405	173473844	7441416	263	84530											
UNC5A	90249	broad.mit.edu	37	chr5	176306886	176306886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtcggaggctgagtgctGaggccggccaggcccgacac	7	5	17	12	3	0	2	0	2	0	0	1	4	0	3	3	5	1	2	3	5	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:176306886G>A	ENST00000329542.4	+	15	2802	c.2528G>A	c.(2527-2529)tGa>tAa	p.*843*	UNC5A_ENST00000261961.3_Silent_p.*803*	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	0					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGAGTGCTGAGGCCGGCCA	0.672													13	21					0	0	0	0	A	176306886	G	A	176306886	2	1	429	1	0	0	0	0	0	0	0	1	17087	1285	45	2		2	UNC5A	5	176306886	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2833042	176306886	4608374	264	84531											
HK3	3101	broad.mit.edu	37	chr5	176314714	176314714	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acatcgcattccggggccagGagcatcactgtcccctgcag	8	7	11	15	2	1	0	1	0	0	0	4	1	3	1	4	3	2	3	4	3	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:176314714G>C	ENST00000292432.5	-	11	1429	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	446	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGGGCCAGGAGCATCACTG	0.642													15	35					0	0	0	0	C	176314714	G	C	176314714	2	2	429	1	0	0	0	0	0	0	0	1	7242	1161	41	2		2	HK3	5	176314714	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7828	176314714	4600546	265	84532											
LMAN2	10960	broad.mit.edu	37	chr5	176764408	176764408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagccaggaaggtgtcgtGatcgcggttgcggaagtcag	9	7	16	9	4	1	1	1	1	0	0	3	3	1	3	1	4	2	1	1	4	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:176764408G>A	ENST00000303127.7	-	5	835	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	LMAN2_ENST00000515209.1_Missense_Mutation_p.H211Y	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	211	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGTGTCGTGATCGCGGTTG	0.667													8	26					0	0	0	0	A	176764408	G	A	176764408	3	1	429	1	0	0	0	0	1	0	0	0	8893	1290	45	2	455	2	LMAN2	5	176764408	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	449694	176764408	4150852	266	84533											
SLC34A1	6569	broad.mit.edu	37	chr5	176823825	176823825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccagagcagttctgtgttCacctcggccatcaccccact	7	10	8	16	1	3	1	2	0	1	1	5	1	4	1	5	1	1	3	5	1	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:176823825C>G	ENST00000324417.5	+	11	1357	c.1266C>G	c.(1264-1266)ttC>ttG	p.F422L	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	422					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GTTCTGTGTTCACCTCGGCCA	0.632													27	41					0	0	0	0	G	176823825	C	G	176823825	3	3	429	1	0	0	0	0	1	0	0	0	14655	825	29	2	1395	2	SLC34A1	5	176823825	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	59417	176823825	4091435	267	84534											
MAPK9	5601	broad.mit.edu	37	chr5	179663529	179663529	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacttactgctgcatctGtgctaagaaaaccaaatata	14	12	6	9	0	1	1	0	0	1	1	1	1	1	1	1	0	7	4	1	0	8	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:179663529G>C	ENST00000343111.6	-	12	1433	c.1135C>G	c.(1135-1137)Cag>Gag	p.Q379E	MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000452135.2_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q379E			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	0					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGCATCTGTGCTAAGAAA	0.478													26	52					0	0	0	0	C	179663529	G	C	179663529	3	2	429	1	0	0	0	0	1	0	0	0	9356	1386	48	4	148	4	MAPK9	5	179663529	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2839704	179663529	1251731	268	84535											
FOXQ1	94234	broad.mit.edu	37	chr6	1313540	1313540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggatgctcaaccccaacagcGagtacaccttcgccgacggg	10	5	11	15	4	1	0	1	0	0	0	2	3	1	1	4	2	5	2	4	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:1313540G>C	ENST00000296839.2	+	1	866	c.601G>C	c.(601-603)Gag>Cag	p.E201Q		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	201					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CCCCAACAGCGAGTACACCTT	0.721													20	38					0	0	0	0	C	1313540	G	C	1313540	3	2	429	1	0	0	0	0	1	0	0	0	6077	1059	37	3	603	3	FOXQ1	6	1313540	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		1313540	169801527	269	84536											
DSP	1832	broad.mit.edu	37	chr6	7569567	7569567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccactggccgtggacctctCttgcaagtaagtcatccaag	9	9	9	14	1	2	0	1	0	1	0	4	1	3	1	4	2	1	2	4	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:7569567C>T	ENST00000379802.3	+	12	1909	c.1568C>T	c.(1567-1569)tCt>tTt	p.S523F	DSP_ENST00000418664.2_Missense_Mutation_p.S523F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	523	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGACCTCTCTTGCAAGTAA	0.572													32	61					0	0	0	0	T	7569567	C	T	7569567	3	4	429	1	0	0	0	0	1	0	0	0	4817	913	32	2	1614	2	DSP	6	7569567	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6256027	7569567	163545500	270	84537											
DSP	1832	broad.mit.edu	37	chr6	7574983	7574983	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcactgaggaggaaactgtCtgcctggacctggataaagt	11	9	12	9	0	2	1	1	1	1	0	2	5	2	5	2	4	2	0	2	4	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:7574983C>G	ENST00000379802.3	+	17	2732	c.2391C>G	c.(2389-2391)gtC>gtG	p.V797V	DSP_ENST00000418664.2_Silent_p.V797V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	797	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAAACTGTCTGCCTGGACC	0.458													24	53					0	0	0	0	G	7574983	C	G	7574983	2	3	429	1	0	0	0	0	0	0	0	1	4817	900	32	2		2	DSP	6	7574983	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5416	7574983	163540084	271	84538											
DSP	1832	broad.mit.edu	37	chr6	7583931	7583931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtgtctttttgccaaaaGatgtcgccttggcccggggg	7	11	13	10	2	1	1	0	0	1	1	2	1	1	1	3	3	1	0	3	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:7583931G>C	ENST00000379802.3	+	24	6777	c.6436G>C	c.(6436-6438)Gat>Cat	p.D2146H	DSP_ENST00000418664.2_Missense_Mutation_p.D1547H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2146	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTTGCCAAAAGATGTCGCCTT	0.468													26	55					0	0	0	0	C	7583931	G	C	7583931	3	2	429	1	0	0	0	0	1	0	0	0	4817	942	33	2	6530	2	DSP	6	7583931	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	8948	7583931	163531136	272	84539											
ATXN1	6310	broad.mit.edu	37	chr6	16306676	16306676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctccagtttgcggctctCtggcgccgaccacctcctct	3	12	8	18	3	3	0	0	0	3	0	6	1	4	0	5	2	1	2	5	2	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:16306676C>T	ENST00000244769.4	-	9	3268	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	ATXN1_ENST00000436367.1_Missense_Mutation_p.E778K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	778	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTGCGGCTCTCTGGCGCCGAC	0.532													24	74					0	0	0	0	T	16306676	C	T	16306676	3	4	429	1	0	0	0	0	1	0	0	0	1213	922	32	2	119	2	ATXN1	6	16306676	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8722745	16306676	154808391	273	84540											
C6orf62	81688	broad.mit.edu	37	chr6	24718801	24718801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaggcaatatacatcttGaagtcaaactggtcagctag	16	9	8	8	0	3	1	2	1	1	0	3	1	3	1	0	2	3	2	0	2	7	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:24718801G>A	ENST00000378119.4	-	1	2263	c.96C>T	c.(94-96)ttC>ttT	p.F32F	C6orf62_ENST00000540769.1_Intron|C6orf62_ENST00000378102.3_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	32						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TATACATCTTGAAGTCAAACT	0.358													15	28					0	0	0	0	A	24718801	G	A	24718801	2	1	429	1	0	0	0	0	0	0	0	1	2390	1281	45	2		2	C6orf62	6	24718801	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	8412125	24718801	146396266	274	84541											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017361	26017361	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggcagtctttggcttCgtcaccctagccttggccgc	3	13	12	13	2	2	0	1	0	1	0	3	0	2	0	3	4	1	3	3	4	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:26017361C>A	ENST00000244573.3	-	1	679	c.600G>T	c.(598-600)acG>acT	p.T200T		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	200					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TCTTTGGCTTCGTCACCCTAG	0.448													51	138					1.11015e-26	1.16652e-26	1	0	A	26017361	C	A	26017361	2	1	429	1	0	0	0	0	0	0	0	1	7172	871	31	3		3	HIST1H1A	6	26017361	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1298560	26017361	145097706	275	84542											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333766	28333766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttaggcgaagttcacatCtcctgagacatcagaggatc	11	10	9	11	1	3	2	2	1	1	2	5	5	3	3	2	2	0	1	2	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:28333766C>T	ENST00000377255.3	+	7	1618	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.L293F|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.L441F	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	441					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AAGTTCACATCTCCTGAGACA	0.498													18	24					0	0	0	0	T	28333766	C	T	28333766	3	4	429	1	0	0	0	0	1	0	0	0	17783	913	32	2	1339	2	ZKSCAN3	6	28333766	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2316405	28333766	142781301	276	84543											
SCAND3	114821	broad.mit.edu	37	chr6	28542879	28542879	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaagttcttcagttagctGagaatgggacaagcccagtt	13	10	10	8	0	2	1	1	1	1	1	2	3	2	2	1	1	3	4	1	1	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:28542879G>A	ENST00000452236.2	-	3	2220	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	535					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCAGTTAGCTGAGAATGGGAC	0.408													29	61					0	0	0	0	A	28542879	G	A	28542879	4	1	429	1	0	0	0	0	0	1	0	0	13962	1299	45	2	2382	2	SCAND3	6	28542879	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	209113	28542879	142572188	277	84544											
OR10C1	442194	broad.mit.edu	37	chr6	29408428	29408428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctgcccctttggcctCatcctgggctcctacgggcg	3	11	10	17	2	2	0	1	0	1	0	5	0	5	0	6	3	2	1	6	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:29408428C>T	ENST00000444197.2	+	1	1346	c.636C>T	c.(634-636)ctC>ctT	p.L212L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTTTGGCCTCATCCTGGGCT	0.587													78	161					0	0	0	0	T	29408428	C	T	29408428	2	4	429	1	0	0	0	0	0	0	0	1	10969	813	29	2		2	OR10C1	6	29408428	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	865549	29408428	141706639	278	84545											
HLA-A	3105	broad.mit.edu	37	chr6	29911304	29911304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctggagaacgggaaggaGacgctgcagcgcacgggtac	11	4	16	10	4	0	2	0	0	0	2	0	5	0	3	1	4	5	4	1	4	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:29911304G>A	ENST00000396634.1	+	5	944	c.603G>A	c.(601-603)gaG>gaA	p.E201E	HLA-A_ENST00000376806.5_Silent_p.E201E|HLA-A_ENST00000376809.5_Silent_p.E201E|HLA-A_ENST00000376802.2_Silent_p.E201E			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	201	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACGGGAAGGAGACGCTGCAGC	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			26	46					0	0	0	0	A	29911304	G	A	29911304	2	1	429	1	0	0	0	0	0	0	0	1	7245	933	33	2		2	HLA-A	6	29911304	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	502876	29911304	141203763	279	84546											
DDR1	780	broad.mit.edu	37	chr6	30863240	30863240	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacttacgcccgtccccctCgaggcccgggcccccccaca	5	4	8	24	4	0	0	0	0	0	0	2	1	1	0	8	2	1	0	8	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:30863240C>T	ENST00000324771.8	+	14	2121	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*	DDR1_ENST00000376570.4_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000452441.1_Nonsense_Mutation_p.R525*|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000513240.1_Nonsense_Mutation_p.R525*|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376568.3_Nonsense_Mutation_p.R525*|DDR1_ENST00000376575.3_Nonsense_Mutation_p.R525*|DDR1_ENST00000361741.4_Silent_p.L228L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	525	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCGTCCCCCTCGAGGCCCGGG	0.677													93	213					0	0	0	0	T	30863240	C	T	30863240	4	4	429	1	0	0	0	0	0	1	0	0	4368	876	31	1	1615	1	DDR1	6	30863240	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	951936	30863240	140251827	280	84547											
SLC44A4	80736	broad.mit.edu	37	chr6	31833471	31833471	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgactccagactcacctctGagcttgtggtcaatatactc	9	11	7	14	1	3	2	2	1	1	1	5	3	4	2	3	1	2	1	3	1	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:31833471G>A	ENST00000544672.1	-	15	1646	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	SLC44A4_ENST00000229729.6_Silent_p.L526L|SLC44A4_ENST00000375562.4_Silent_p.L484L	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	526						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ACTCACCTCTGAGCTTGTGGT	0.567													47	117					0	0	0	0	A	31833471	G	A	31833471	2	1	429	1	0	0	0	0	0	0	0	1	14726	1277	45	2		2	SLC44A4	6	31833471	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	970231	31833471	139281596	281	84548											
EHMT2	10919	broad.mit.edu	37	chr6	31856205	31856205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgcgggcgcggtgggtctCacagagcaccatcagggcca	8	5	15	13	3	2	1	2	0	1	1	3	1	2	1	2	4	2	1	2	4	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:31856205C>G	ENST00000395728.3	-	11	1614	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	EHMT2_ENST00000375530.4_Missense_Mutation_p.E448Q|EHMT2_ENST00000375537.4_Missense_Mutation_p.E482Q|EHMT2_ENST00000375528.4_Missense_Mutation_p.E505Q|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	482					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGGTGGGTCTCACAGAGCACC	0.652													6	13					0	0	0	0	G	31856205	C	G	31856205	3	3	429	1	0	0	0	0	1	0	0	0	5020	835	29	2	2256	2	EHMT2	6	31856205	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	22734	31856205	139258862	282	84549											
NOTCH4	4855	broad.mit.edu	37	chr6	32166501	32166501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacttctgcctttggcttCagtgccctggaaaggaatgg	8	12	11	10	0	3	0	2	0	1	0	3	2	3	2	2	4	3	1	2	4	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:32166501C>T	ENST00000375023.3	-	25	4680	c.4542G>A	c.(4540-4542)ctG>ctA	p.L1514L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1514					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCTTTGGCTTCAGTGCCCTGG	0.557													6	12					0	0	0	0	T	32166501	C	T	32166501	2	4	429	1	0	0	0	0	0	0	0	1	10621	813	29	2		2	NOTCH4	6	32166501	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	310296	32166501	138948566	283	84550											
WDR46	9277	broad.mit.edu	37	chr6	33256651	33256651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggacctgaggcttcttaGagatccgagacttctttaag	9	12	11	9	2	2	3	0	1	2	2	4	6	3	4	2	2	0	1	2	2	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:33256651G>A	ENST00000374617.4	-	2	565	c.209C>T	c.(208-210)tCt>tTt	p.S70F	WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	70										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						AGGCTTCTTAGAGATCCGAGA	0.577													22	53					0	0	0	0	A	33256651	G	A	33256651	3	1	429	1	0	0	0	0	1	0	0	0	17395	942	33	2	1679	2	WDR46	6	33256651	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1090150	33256651	137858416	284	84551											
DNAH8	1769	broad.mit.edu	37	chr6	38759406	38759406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgttgatttctctgcctGaaagtggtgctaccaaagta	9	14	10	8	0	1	2	0	2	1	0	2	2	1	2	2	1	3	3	2	1	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:38759406G>C	ENST00000359357.3	+	19	2460	c.2206G>C	c.(2206-2208)Gaa>Caa	p.E736Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.E736Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.E953Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCTCTGCCTGAAAGTGGTGC	0.343													15	23					0	0	0	0	C	38759406	G	C	38759406	3	2	429	1	0	0	0	0	1	0	0	0	4643	1291	45	2	2272	2	DNAH8	6	38759406	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5502755	38759406	132355661	285	84552											
DNAH8	1769	broad.mit.edu	37	chr6	38816451	38816451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctccatttaaaaaaaatatCcagaattgggtgtataaatt	17	13	6	5	0	0	1	0	0	0	1	2	1	2	1	2	1	0	2	2	1	9	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:38816451C>T	ENST00000359357.3	+	35	4676	c.4422C>T	c.(4420-4422)atC>atT	p.I1474I	DNAH8_ENST00000441566.1_Silent_p.I1474I|DNAH8_ENST00000449981.2_Silent_p.I1691I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAAAATATCCAGAATTGGG	0.348													8	35					0	0	0	0	T	38816451	C	T	38816451	2	4	429	1	0	0	0	0	0	0	0	1	4643	845	30	2		2	DNAH8	6	38816451	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	57045	38816451	132298616	286	84553											
PPP2R5D	5528	broad.mit.edu	37	chr6	42976139	42976139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccctgccccttaaagaaGagcacaagatgttcctcatc	11	10	7	13	0	1	3	1	0	0	3	3	3	2	3	4	0	3	2	4	0	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:42976139G>C	ENST00000485511.1	+	9	1131	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E212Q|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E286Q|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E310Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	318					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTTAAAGAAGAGCACAAGAT	0.493													15	113					0	0	0	0	C	42976139	G	C	42976139	3	2	429	1	0	0	0	0	1	0	0	0	12471	943	33	2	986	2	PPP2R5D	6	42976139	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4159688	42976139	128138928	287	84554											
MRPL2	51069	broad.mit.edu	37	chr6	43025831	43025831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcggcccccagacttcctCatcttcactggtgtaatggt	6	13	8	14	1	4	1	2	0	2	1	6	1	5	1	3	3	0	1	3	3	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:43025831C>T	ENST00000388752.3	-	2	661	c.237G>A	c.(235-237)atG>atA	p.M79I	MRPL2_ENST00000230413.5_Missense_Mutation_p.M79I|MRPL2_ENST00000489623.1_Missense_Mutation_p.M79I|MRPL2_ENST00000487429.1_3'UTR|MRPL2_ENST00000468957.1_Missense_Mutation_p.M79I	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	79					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CAGACTTCCTCATCTTCACTG	0.488													44	110					0	0	0	0	T	43025831	C	T	43025831	3	4	429	1	0	0	0	0	1	0	0	0	9855	826	29	2	704	2	MRPL2	6	43025831	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	49692	43025831	128089236	288	84555											
GSTA3	2940	broad.mit.edu	37	chr6	52767200	52767200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttgctggcaatgtagttGagaatggctctggtctgtac	8	15	12	6	0	2	1	0	1	2	1	2	2	2	1	0	3	2	6	0	3	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:52767200G>A	ENST00000211122.3	-	4	281	c.216C>T	c.(214-216)ctC>ctT	p.L72L	GSTA3_ENST00000370968.1_Silent_p.L22L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	72	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAATGTAGTTGAGAATGGCTC	0.423													60	112					0	0	0	0	A	52767200	G	A	52767200	2	1	429	1	0	0	0	0	0	0	0	1	6882	1277	45	2		2	GSTA3	6	52767200	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	9741369	52767200	118347867	289	84556											
PHF3	23469	broad.mit.edu	37	chr6	64395323	64395323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaattctggggttaaatCtgtgaaaaaccaagctcatt	13	13	8	7	0	3	1	1	1	2	0	3	1	3	1	1	2	3	3	1	2	6	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:64395323C>A	ENST00000262043.3	+	4	2040	c.1700C>A	c.(1699-1701)tCt>tAt	p.S567Y	PHF3_ENST00000393387.1_Missense_Mutation_p.S567Y|PHF3_ENST00000509330.1_Missense_Mutation_p.S567Y			Q92576	PHF3_HUMAN	PHD finger protein 3	567					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGGGTTAAATCTGTGAAAAAC	0.343													16	32					2.32078e-09	2.39192e-09	1	0	A	64395323	C	A	64395323	3	1	429	1	0	0	0	0	1	0	0	0	11908	913	32	2	1710	2	PHF3	6	64395323	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	11628123	64395323	106719744	290	84557											
PHF3	23469	broad.mit.edu	37	chr6	64404585	64404585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctcggagatcctcagaaGaaaaaagtgaaaaaataccg	19	6	8	8	2	1	4	1	1	0	3	3	5	2	4	3	1	2	0	3	1	9	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:64404585G>C	ENST00000262043.3	+	6	2951	c.2611G>C	c.(2611-2613)Gaa>Caa	p.E871Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E871Q			Q92576	PHF3_HUMAN	PHD finger protein 3	871					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCCTCAGAAGAAAAAAGTGA	0.363													49	81					0	0	0	0	C	64404585	G	C	64404585	3	2	429	1	0	0	0	0	1	0	0	0	11908	943	33	2	2629	2	PHF3	6	64404585	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	9262	64404585	106710482	291	84558											
OGFRL1	79627	broad.mit.edu	37	chr6	72003263	72003263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatatccgatatcaaaatGacttgagcaatcttcgtttt	14	14	6	7	2	2	3	1	2	1	1	4	4	3	3	1	0	1	2	1	0	6	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:72003263G>A	ENST00000370435.4	+	3	483	c.349G>A	c.(349-351)Gac>Aac	p.D117N	RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|OGFRL1_ENST00000467503.1_3'UTR|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	117						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATATCAAAATGACTTGAGCAA	0.323													13	14					0	0	0	0	A	72003263	G	A	72003263	3	1	429	1	0	0	0	0	1	0	0	0	10915	1290	45	2	359	2	OGFRL1	6	72003263	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7598678	72003263	99111804	292	84559											
KCNQ5	56479	broad.mit.edu	37	chr6	73900384	73900384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattgaacaatattctgctGgtcatctggacatgttgtgt	9	16	9	7	0	4	1	2	1	2	0	4	2	4	2	0	2	2	2	0	2	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:73900384G>C	ENST00000342056.2	+	13	2121	c.1723G>C	c.(1723-1725)Ggt>Cgt	p.G575R	KCNQ5_ENST00000355635.3_Missense_Mutation_p.G557R|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G446R|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G547R|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G566R|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G556R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G556R	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	556					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATATTCTGCTGGTCATCTGGA	0.353													19	36					0	0	0	0	C	73900384	G	C	73900384	3	2	429	1	0	0	0	0	1	0	0	0	8139	1348	47	4	1773	4	KCNQ5	6	73900384	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1897121	73900384	97214683	293	84560											
SENP6	26054	broad.mit.edu	37	chr6	76373228	76373228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtttgtcagacctaaatGatccaagtaagtattttact	14	14	6	7	0	1	2	1	1	0	1	2	2	2	2	2	0	1	3	2	0	7	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:76373228G>A	ENST00000370014.3	+	9	1607	c.988G>A	c.(988-990)Gat>Aat	p.D330N	SENP6_ENST00000370010.2_Missense_Mutation_p.D323N|SENP6_ENST00000327284.8_Missense_Mutation_p.D323N|SENP6_ENST00000447266.2_Missense_Mutation_p.D330N	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	330					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGACCTAAATGATCCAAGTAA	0.313													3	32					0	0	0	0	A	76373228	G	A	76373228	3	1	429	1	0	0	0	0	1	0	0	0	14137	1290	45	2	1022	2	SENP6	6	76373228	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2472844	76373228	94741839	294	84561											
PHIP	55023	broad.mit.edu	37	chr6	79770451	79770451	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtactccaggaacactttGaggaatttcttgttcaagaa	12	14	8	7	0	2	2	1	1	1	1	3	4	3	4	1	2	2	2	1	2	5	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:79770451G>C	ENST00000275034.4	-	5	441	c.274C>G	c.(274-276)Caa>Gaa	p.Q92E		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	92					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GGAACACTTTGAGGAATTTCT	0.353													23	28					0	0	0	0	C	79770451	G	C	79770451	3	2	429	1	0	0	0	0	1	0	0	0	11914	1299	45	2	5335	2	PHIP	6	79770451	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3397223	79770451	91344616	295	84562											
MRAP2	112609	broad.mit.edu	37	chr6	84765060	84765060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccgcccagaggttaatttCtaacagaacctcccagcaat	12	9	7	13	1	1	2	0	0	1	2	3	2	3	2	4	1	3	2	4	1	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:84765060C>G	ENST00000257776.4	+	2	158	c.23C>G	c.(22-24)tCt>tGt	p.S8C		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	8					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGTTAATTTCTAACAGAACC	0.433													16	44					0	0	0	0	G	84765060	C	G	84765060	3	3	429	1	0	0	0	0	1	0	0	0	9824	913	32	2	25	2	MRAP2	6	84765060	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4994609	84765060	86350007	296	84563											
CNR1	1268	broad.mit.edu	37	chr6	88853580	88853580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggaggcatcaggctcacaGagcctcggcagacgtgtctg	9	6	15	11	2	3	2	2	0	1	2	4	3	3	3	1	4	1	3	1	4	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:88853580G>C	ENST00000537554.1	-	2	4976	c.1414C>G	c.(1414-1416)Ctg>Gtg	p.L472V	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.L439V|CNR1_ENST00000369499.2_Missense_Mutation_p.L472V|CNR1_ENST00000535130.1_Missense_Mutation_p.L472V|CNR1_ENST00000369501.2_Missense_Mutation_p.L472V|CNR1_ENST00000549890.1_Missense_Mutation_p.L472V|CNR1_ENST00000428600.2_Missense_Mutation_p.L472V|CNR1_ENST00000549716.1_Missense_Mutation_p.L411V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	472					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			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)	CAGGCTCACAGAGCCTCGGCA	0.463													42	163					0	0	0	0	C	88853580	G	C	88853580	3	2	429	1	0	0	0	0	1	0	0	0	3661	933	33	2	8	2	CNR1	6	88853580	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4088520	88853580	82261487	297	84564											
MDN1	23195	broad.mit.edu	37	chr6	90364054	90364054	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttctttgctggccacatCtgtcaacaaagcacgcaccc	9	10	7	15	1	3	0	1	0	2	0	3	0	3	0	2	1	3	4	2	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:90364054C>T	ENST00000369393.3	-	93	15606		c.e93-1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGGCCACATCTGTCAACAAA	0.443													90	166					0	0	0	0	T	90364054	C	T	90364054	5	4	429	1	0	0	0	0	0	0	1	0	9484	927	32	2	1340	2	MDN1	6	90364054	Splice_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1510474	90364054	80751013	298	84565											
MDN1	23195	broad.mit.edu	37	chr6	90371153	90371153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctgaaagacgcaccttCtccttcttcattgtcggtgt	6	16	8	11	2	4	2	1	1	3	1	6	2	4	2	2	1	0	2	2	1	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:90371153C>T	ENST00000369393.3	-	88	14825	c.14710G>A	c.(14710-14712)Gaa>Aaa	p.E4904K	MDN1_ENST00000428876.1_Missense_Mutation_p.E4904K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4904					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACGCACCTTCTCCTTCTTCA	0.468													41	78					0	0	0	0	T	90371153	C	T	90371153	3	4	429	1	0	0	0	0	1	0	0	0	9484	922	32	2	2140	2	MDN1	6	90371153	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	7099	90371153	80743914	299	84566											
PPIL6	285755	broad.mit.edu	37	chr6	109740402	109740402	+	Missense_Mutation	SNP	G	G	A																															atacataccttcaaatgttgGaccataaatcgactctccat																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:109740402G>A	ENST00000521072.2	-	6	1256	c.676C>T	c.(676-678)Cca>Tca	p.P226S	PPIL6_ENST00000440797.2_Missense_Mutation_p.P226S|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Missense_Mutation_p.P194S	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	226	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAAATGTTGGACCATAAATC	0.289													13	34					0	0	0	0	A	109740402	G	A	109740402	3	1	429	1	0	0	0	0	1	0	0	0	12407	1174	41	2	353	2	PPIL6	6	109740402	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	19369249	109740402	61374665	300	84567	1063	2									
PPIL6	285755	broad.mit.edu	37	chr6	109740403	109740403	+	Silent	SNP	A	A	C																															tacataccttcaaatgttggAccataaatcgactctccatt																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:109740403A>C	ENST00000521072.2	-	6	1255	c.675T>G	c.(673-675)ggT>ggG	p.G225G	PPIL6_ENST00000440797.2_Silent_p.G225G|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Silent_p.G193G	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	225	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CAAATGTTGGACCATAAATCG	0.289													13	35					0	0	0	0	C	109740403	A	C	109740403	2	2	429	1	0	0	0	0	0	0	0	1	12407	262	10	5		5	PPIL6	6	109740403	Silent	SNP	A	TCGA-HL-7533-01A-11D-2229-08	1	109740403	61374664	301	84568	1063	2									
REV3L	5980	broad.mit.edu	37	chr6	111678260	111678260	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaaaagtgccttctcatCagcagcataggtgacttcga	13	10	9	9	1	2	2	2	2	1	0	4	3	2	2	1	1	3	2	1	1	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:111678260C>G	ENST00000435970.1	-	20	7723	c.6907G>C	c.(6907-6909)Gat>Cat	p.D2303H	REV3L_ENST00000368802.3_Missense_Mutation_p.D2381H|REV3L_ENST00000368805.1_Missense_Mutation_p.D2381H|REV3L_ENST00000358835.3_Missense_Mutation_p.D2381H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2381					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCTTCTCATCAGCAGCATAG	0.303								DNA polymerases (catalytic subunits)					28	74					0	0	0	0	G	111678260	C	G	111678260	3	3	429	1	0	0	0	0	1	0	0	0	13322	826	29	2	2311	2	REV3L	6	111678260	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1937857	111678260	59436807	302	84569											
FYN	2534	broad.mit.edu	37	chr6	112035584	112035584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaatttttctcctttgtGaaaactcaggtcatcttctg	9	18	6	8	0	5	2	2	2	3	0	6	2	5	2	1	1	1	0	1	1	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:112035584G>A	ENST00000354650.3	-	5	916	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	FYN_ENST00000229471.4_Missense_Mutation_p.H104Y|FYN_ENST00000368682.3_Missense_Mutation_p.H104Y|FYN_ENST00000356013.2_Missense_Mutation_p.H104Y|FYN_ENST00000538466.1_Missense_Mutation_p.H104Y|FYN_ENST00000229470.5_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.H104Y|FYN_ENST00000368667.2_Missense_Mutation_p.H104Y	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	104	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCTCCTTTGTGAAAACTCAGG	0.428													11	28					0	0	0	0	A	112035584	G	A	112035584	3	1	429	1	0	0	0	0	1	0	0	0	6174	1290	45	2	1503	2	FYN	6	112035584	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	357324	112035584	59079483	303	84570											
VGLL2	245806	broad.mit.edu	37	chr6	117589564	117589564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcagctccgtggtggatGaacatttcagcagggccctg	9	9	12	11	1	2	1	2	1	0	0	3	2	3	2	2	3	3	2	2	3	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:117589564G>A	ENST00000326274.5	+	2	491	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	VGLL2_ENST00000352536.3_Missense_Mutation_p.E101K	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	101					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGTGGTGGATGAACATTTCAG	0.582													32	62					0	0	0	0	A	117589564	G	A	117589564	3	1	429	1	0	0	0	0	1	0	0	0	17255	1291	45	2	307	2	VGLL2	6	117589564	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5553980	117589564	53525503	304	84571											
THEMIS	387357	broad.mit.edu	37	chr6	128150858	128150858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaatgagtgagtttgatGattccttgctactgcacagc	11	14	9	7	0	0	4	0	4	0	0	1	4	1	4	1	0	4	3	1	0	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:128150858G>A	ENST00000368250.1	-	4	733	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	THEMIS_ENST00000368248.2_Missense_Mutation_p.H158Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.H158Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.H123Y			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	158	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGAGTTTGATGATTCCTTGCT	0.388													32	59					0	0	0	0	A	128150858	G	A	128150858	3	1	429	1	0	0	0	0	1	0	0	0	15954	1290	45	2	1590	2	THEMIS	6	128150858	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10561294	128150858	42964209	305	84572											
SAMD3	154075	broad.mit.edu	37	chr6	130465700	130465700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaaatcctacttcgttttCcttttctttcaaagaaggaa	11	16	5	9	1	2	2	1	1	1	1	5	3	4	3	2	1	1	1	2	1	5	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:130465700C>T	ENST00000368134.2	-	14	2136	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	SAMD3_ENST00000457563.2_Missense_Mutation_p.E534K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E510K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E510K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	510										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACTTCGTTTTCCTTTTCTTTC	0.373													21	26					0	0	0	0	T	130465700	C	T	130465700	3	4	429	1	0	0	0	0	1	0	0	0	13905	864	30	2	38	2	SAMD3	6	130465700	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2314842	130465700	40649367	306	84573											
TCF21	6943	broad.mit.edu	37	chr6	134212881	134212881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatggtggccgggaaacccGagagtgacctgaaagaagtg	12	7	15	7	2	0	4	0	2	0	2	0	6	0	5	3	3	1	0	3	3	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:134212881G>A	ENST00000367882.4	+	2	741	c.481G>A	c.(481-483)Gag>Aag	p.E161K	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E161K	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	161					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CGGGAAACCCGAGAGTGACCT	0.657													21	37					0	0	0	0	A	134212881	G	A	134212881	3	1	429	1	0	0	0	0	1	0	0	0	15785	1059	37	1	487	1	TCF21	6	134212881	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3747181	134212881	36902186	307	84574											
UTRN	7402	broad.mit.edu	37	chr6	145110403	145110403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccaaaggtctcttggaaGaaaaatacagatgtatgtaa	16	11	8	6	0	2	2	0	0	2	2	4	3	2	3	1	2	1	2	1	2	7	4	rs148004522		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:145110403G>A	ENST00000367545.3	+	61	8908	c.8908G>A	c.(8908-8910)Gaa>Aaa	p.E2970K	UTRN_ENST00000367526.4_Missense_Mutation_p.E525K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2970	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTCTTGGAAGAAAAATACAG	0.284													24	64					0	0	0	0	A	145110403	G	A	145110403	3	1	429	1	0	0	0	0	1	0	0	0	17199	943	33	2	9150	2	UTRN	6	145110403	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10897522	145110403	26004664	308	84575											
GRM1	2911	broad.mit.edu	37	chr6	146350788	146350788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagaatggacggagatgtCatcattggagccctcttctc	9	10	11	11	1	4	2	2	0	2	2	5	5	4	4	2	3	1	0	2	3	1	2	rs143790799		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:146350788C>T	ENST00000392299.2	+	2	605	c.135C>T	c.(133-135)gtC>gtT	p.V45V	GRM1_ENST00000507907.1_Silent_p.V45V|GRM1_ENST00000361719.2_Silent_p.V45V|GRM1_ENST00000492807.2_Silent_p.V45V|GRM1_ENST00000282753.1_Silent_p.V45V|GRM1_ENST00000355289.4_Silent_p.V45V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	45					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACGGAGATGTCATCATTGGAG	0.597													34	101					0	0	0	0	T	146350788	C	T	146350788	2	4	429	1	0	0	0	0	0	0	0	1	6846	813	29	2		2	GRM1	6	146350788	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1240385	146350788	24764279	309	84576											
SASH1	23328	broad.mit.edu	37	chr6	148865326	148865326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaacctcagaaattgaCaactaagaaactggagggct	15	9	9	8	0	2	4	1	2	1	2	2	5	2	5	1	2	3	1	1	2	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:148865326C>G	ENST00000367467.3	+	18	3195	c.2720C>G	c.(2719-2721)aCa>aGa	p.T907R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	907							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGAAATTGACAACTAAGAAA	0.532													64	134					0	0	0	0	G	148865326	C	G	148865326	3	3	429	1	0	0	0	0	1	0	0	0	13934	478	17	4	2790	4	SASH1	6	148865326	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2514538	148865326	22249741	310	84577											
UST	10090	broad.mit.edu	37	chr6	149262512	149262512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatcttgtcggagaagcacgGatttaatttggtcacatcag	12	12	10	7	2	3	1	2	0	1	1	4	3	3	2	0	3	1	1	0	3	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:149262512G>C	ENST00000367463.4	+	3	492	c.389G>C	c.(388-390)gGa>gCa	p.G130A		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	130					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GAGAAGCACGGATTTAATTTG	0.433													29	85					0	0	0	0	C	149262512	G	C	149262512	3	2	429	1	0	0	0	0	1	0	0	0	17189	1174	41	2	399	2	UST	6	149262512	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	397186	149262512	21852555	311	84578											
SYNE1	23345	broad.mit.edu	37	chr6	152708396	152708396	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaggacgaacttctctttCagacctggctgtggttgtaa	9	12	11	9	1	2	1	1	0	1	1	3	3	2	2	1	3	2	4	1	3	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:152708396C>T	ENST00000367255.5	-	54	8899	c.8298G>A	c.(8296-8298)ctG>ctA	p.L2766L	SYNE1_ENST00000448038.1_Silent_p.L2773L|SYNE1_ENST00000423061.1_Silent_p.L2773L|SYNE1_ENST00000265368.4_Silent_p.L2766L|SYNE1_ENST00000341594.5_Silent_p.L2805L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2766					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTCTCTTTCAGACCTGGCT	0.493										HNSCC(10;0.0054)			33	66					0	0	0	0	T	152708396	C	T	152708396	2	4	429	1	0	0	0	0	0	0	0	1	15536	813	29	2		2	SYNE1	6	152708396	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3445884	152708396	18406671	312	84579											
ARID1B	57492	broad.mit.edu	37	chr6	157150436	157150436	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaccctcattctcagcctCagcagagcagtccgtaccca	10	8	7	16	1	3	1	3	0	1	1	5	1	4	1	4	0	5	4	4	0	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:157150436C>T	ENST00000346085.5	+	2	1619	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q482*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	540					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTCTCAGCCTCAGCAGAGCAG	0.567													10	76					0	0	0	0	T	157150436	C	T	157150436	4	4	429	1	0	0	0	0	0	1	0	0	916	827	29	2	1624	2	ARID1B	6	157150436	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4442040	157150436	13964631	313	84580											
ARID1B	57492	broad.mit.edu	37	chr6	157521838	157521838	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtctttctgtgaattccaGaattacaaacgccatatgga	12	14	7	8	1	2	2	0	1	2	1	3	3	3	3	2	1	2	0	2	1	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:157521838G>A	ENST00000346085.5	+	18	4111		c.e18-1		ARID1B_ENST00000367148.1_Splice_Site|ARID1B_ENST00000350026.5_Splice_Site|ARID1B_ENST00000275248.4_Splice_Site	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGAATTCCAGAATTACAAAC	0.453													5	83					0	0	0	0	A	157521838	G	A	157521838	5	1	429	1	0	0	0	0	0	0	1	0	916	956	33	2	4180	2	ARID1B	6	157521838	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	371402	157521838	13593229	314	84581											
ARID1B	57492	broad.mit.edu	37	chr6	157522173	157522173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagaacaggcagggccctgGcggccctacacaggcgcccc	8	2	13	18	2	0	1	0	0	0	1	0	1	0	1	5	5	2	1	5	5	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:157522173G>A	ENST00000346085.5	+	18	4446	c.4445G>A	c.(4444-4446)gGc>gAc	p.G1482D	ARID1B_ENST00000367148.1_Missense_Mutation_p.G1522D|ARID1B_ENST00000350026.5_Missense_Mutation_p.G1469D|ARID1B_ENST00000275248.4_Missense_Mutation_p.G1464D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1469	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGGGCCCTGGCGGCCCTACA	0.597													28	42					0	0	0	0	A	157522173	G	A	157522173	3	1	429	1	0	0	0	0	1	0	0	0	916	1203	42	4	4515	4	ARID1B	6	157522173	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	335	157522173	13592894	315	84582											
ARID1B	57492	broad.mit.edu	37	chr6	157522462	157522462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccttttctgccgtctatGaagatgcagaaggtcatgcc	8	13	9	11	1	4	3	1	1	3	2	5	3	4	3	3	1	3	1	3	1	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:157522462G>C	ENST00000346085.5	+	18	4735	c.4734G>C	c.(4732-4734)atG>atC	p.M1578I	ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618I|ARID1B_ENST00000350026.5_Missense_Mutation_p.M1565I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1565	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGCCGTCTATGAAGATGCAGA	0.602													50	88					0	0	0	0	C	157522462	G	C	157522462	3	2	429	1	0	0	0	0	1	0	0	0	916	1290	45	2	4804	2	ARID1B	6	157522462	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	289	157522462	13592605	316	84583											
PNLDC1	154197	broad.mit.edu	37	chr6	160239618	160239618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccgagtcatcctttcctCagtaccttgacgtgctggct	5	13	9	14	2	2	1	2	1	0	0	4	2	4	1	4	1	3	3	4	1	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:160239618C>G	ENST00000275275.5	+	16	1327	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q397E	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	386						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATCCTTTCCTCAGTACCTTGA	0.577													31	60					0	0	0	0	G	160239618	C	G	160239618	3	3	429	1	0	0	0	0	1	0	0	0	12220	827	29	2	1214	2	PNLDC1	6	160239618	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2717156	160239618	10875449	317	84584											
THBS2	7058	broad.mit.edu	37	chr6	169634894	169634894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccccacgcaggccttccctCcgtactgaggctcagggctg	5	7	11	18	2	1	1	1	1	0	0	3	1	3	1	5	3	1	4	5	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:169634894C>T	ENST00000366787.3	-	11	1835	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	529	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCCTTCCCTCCGTACTGAGG	0.677													17	38					0	0	0	0	T	169634894	C	T	169634894	3	4	429	1	0	0	0	0	1	0	0	0	15948	855	30	2	1984	2	THBS2	6	169634894	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	9395276	169634894	1480173	318	84585											
SDK1	221935	broad.mit.edu	37	chr7	4089060	4089060	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgtggaaccctccgcctCagcagtttatcaatggcatc	8	11	8	14	1	2	0	2	0	0	0	5	1	4	1	4	2	2	3	4	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:4089060C>T	ENST00000404826.2	+	18	2822	c.2683C>T	c.(2683-2685)Cag>Tag	p.Q895*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.Q895*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	895	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTCCGCCTCAGCAGTTTAT	0.612													32	25					0	0	0	0	T	4089060	C	T	4089060	4	4	429	1	0	0	0	0	0	1	0	0	14055	827	29	2	2753	2	SDK1	7	4089060	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08		4089060	155049603	319	84586											
ACTB	60	broad.mit.edu	37	chr7	5569207	5569207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggaggggaagacggcccGgggggcatcgtcgcccgcga	7	3	20	11	6	0	1	0	0	0	1	2	5	0	3	2	7	0	1	2	7	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:5569207G>A	ENST00000331789.5	-	2	273	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	28					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AAGACGGCCCGGGGGGCATCG	0.706													13	46					0	0	0	0	A	5569207	G	A	5569207	3	1	429	1	0	0	0	0	1	0	0	0	193	1115	39	1	1065	1	ACTB	7	5569207	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1480147	5569207	153569456	320	84587											
MIOS	54468	broad.mit.edu	37	chr7	7628157	7628157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagttgcagtacgtgacaGagtggcatttgcttgtaaat	12	12	11	6	1	0	2	0	1	0	1	0	2	0	2	0	1	3	6	0	1	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:7628157G>C	ENST00000340080.4	+	8	2268	c.1847G>C	c.(1846-1848)aGa>aCa	p.R616T	MIOS_ENST00000405785.1_Missense_Mutation_p.R616T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	616								p.R616T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTACGTGACAGAGTGGCATTT	0.343													15	51					0	0	0	0	C	7628157	G	C	7628157	3	2	429	1	0	0	0	0	1	0	0	0	9658	942	33	2	1865	2	MIOS	7	7628157	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2058950	7628157	151510506	321	84588											
HDAC9	9734	broad.mit.edu	37	chr7	18669025	18669025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaacagaaagtggcagaGaggagaagcagccccttact	16	6	11	8	0	0	3	0	0	0	3	0	5	0	3	2	2	4	2	2	2	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:18669025G>A	ENST00000406451.3	+	7	858	c.708G>A	c.(706-708)gaG>gaA	p.E236E	HDAC9_ENST00000432645.2_Silent_p.E236E|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000405010.3_Silent_p.E236E|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000441542.2_Silent_p.E239E|HDAC9_ENST00000456174.2_Silent_p.E208E|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000406072.1_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	236	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGTGGCAGAGAGGAGAAGCA	0.428													12	15					0	0	0	0	A	18669025	G	A	18669025	2	1	429	1	0	0	0	0	0	0	0	1	7064	933	33	2		2	HDAC9	7	18669025	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11040868	18669025	140469638	322	84589											
MACC1	346389	broad.mit.edu	37	chr7	20199825	20199825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattattaccacgaagggtGaaagcatccggccaattgtg	12	9	11	9	2	0	1	0	1	0	0	1	2	1	1	3	2	2	2	3	2	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:20199825G>A	ENST00000400331.5	-	5	467	c.159C>T	c.(157-159)ttC>ttT	p.F53F	MACC1_ENST00000589011.1_Silent_p.F53F|MACC1_ENST00000332878.4_Silent_p.F53F	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	53					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CACGAAGGGTGAAAGCATCCG	0.398													18	44					0	0	0	0	A	20199825	G	A	20199825	2	1	429	1	0	0	0	0	0	0	0	1	9208	1281	45	2		2	MACC1	7	20199825	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1530800	20199825	138938838	323	84590											
DNAH11	8701	broad.mit.edu	37	chr7	21721216	21721216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgggagaacttccacctgGagacagacagaagatcatga	14	6	12	9	0	1	6	1	1	0	5	2	8	2	6	2	2	1	1	2	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:21721216G>A	ENST00000328843.6	+	31	5427	c.5396G>A	c.(5395-5397)gGa>gAa	p.G1799E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G1794E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1799	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTCCACCTGGAGACAGACAG	0.383									Kartagener syndrome				23	32					0	0	0	0	A	21721216	G	A	21721216	3	1	429	1	0	0	0	0	1	0	0	0	4636	1174	41	2	5518	2	DNAH11	7	21721216	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1521391	21721216	137417447	324	84591											
GARS	2617	broad.mit.edu	37	chr7	30651843	30651843	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgagatctcccctcgatCtggactgatcagagtcaggt	11	10	10	10	1	4	3	2	2	2	2	6	6	4	4	2	2	0	0	2	2	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:30651843C>G	ENST00000389266.3	+	8	1254	c.1013C>G	c.(1012-1014)tCt>tGt	p.S338C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	338					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCCCCTCGATCTGGACTGATC	0.398													11	36					0	0	0	0	G	30651843	C	G	30651843	3	3	429	1	0	0	0	0	1	0	0	0	6291	913	32	2	1043	2	GARS	7	30651843	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8930627	30651843	128486820	325	84592											
BMPER	168667	broad.mit.edu	37	chr7	34118702	34118702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagcagcacctcaccGtgcgctggaacggctcgcgc	6	5	13	17	5	1	0	1	0	0	0	2	1	1	1	3	2	5	5	3	2	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:34118702G>A	ENST00000297161.2	+	13	1686	c.1312G>A	c.(1312-1314)Gtg>Atg	p.V438M	BMPER_ENST00000426693.1_Missense_Mutation_p.V438M	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	438	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCACCTCACCGTGCGCTGGAA	0.657													60	97					0	0	0	0	A	34118702	G	A	34118702	3	1	429	1	0	0	0	0	1	0	0	0	1473	1145	40	1	1358	1	BMPER	7	34118702	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3466859	34118702	125019961	326	84593											
ELMO1	9844	broad.mit.edu	37	chr7	37311478	37311478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatagtgccattttttatctCattgcggttctggaaaagaa	11	15	9	6	1	2	1	1	0	2	1	3	3	2	2	1	2	2	1	1	2	5	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:37311478C>G	ENST00000310758.4	-	5	849	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	ELMO1_ENST00000442504.1_Missense_Mutation_p.E68Q|ELMO1_ENST00000448602.1_Missense_Mutation_p.E68Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	68					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTTTTATCTCATTGCGGTTC	0.353													10	41					0	0	0	0	G	37311478	C	G	37311478	3	3	429	1	0	0	0	0	1	0	0	0	5103	835	29	2	2053	2	ELMO1	7	37311478	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3192776	37311478	121827185	327	84594											
C7orf57	136288	broad.mit.edu	37	chr7	48080963	48080963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcccagtgaagcgctctGagaaggccgtggatgcccca	9	6	13	13	3	1	2	0	2	1	1	2	4	2	3	4	2	2	1	4	2	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:48080963G>A	ENST00000348904.3	+	3	300	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf57_ENST00000539619.1_Missense_Mutation_p.E30K|C7orf57_ENST00000430738.1_Missense_Mutation_p.E75K|C7orf57_ENST00000420324.1_Missense_Mutation_p.E75K|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	30										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAAGCGCTCTGAGAAGGCCGT	0.587													14	32					0	0	0	0	A	48080963	G	A	48080963	3	1	429	1	0	0	0	0	1	0	0	0	2427	1291	45	2	94	2	C7orf57	7	48080963	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10769485	48080963	111057700	328	84595											
C7orf57	136288	broad.mit.edu	37	chr7	48092436	48092436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggcatcagtgttatctCagtccccacgagacctggaa	10	8	10	13	1	2	1	2	0	1	1	4	3	3	2	4	2	0	2	4	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:48092436C>G	ENST00000348904.3	+	7	957	c.745C>G	c.(745-747)Cag>Gag	p.Q249E	C7orf57_ENST00000539619.1_Missense_Mutation_p.Q249E|C7orf57_ENST00000430738.1_Missense_Mutation_p.Q294E|C7orf57_ENST00000420324.1_Missense_Mutation_p.Q278E|C7orf57_ENST00000435376.1_Missense_Mutation_p.Q111E	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	249										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGTGTTATCTCAGTCCCCACG	0.572													21	20					0	0	0	0	G	48092436	C	G	48092436	3	3	429	1	0	0	0	0	1	0	0	0	2427	827	29	2	767	2	C7orf57	7	48092436	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	11473	48092436	111046227	329	84596											
GRB10	2887	broad.mit.edu	37	chr7	50737553	50737553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactgctggtcttcctcctGaaggcgcctggaaggcaggg	8	8	14	11	1	1	1	0	1	1	0	3	2	3	2	3	5	2	2	3	5	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:50737553G>C	ENST00000403097.1	-	6	1132	c.352C>G	c.(352-354)Cag>Gag	p.Q118E	GRB10_ENST00000398812.2_Missense_Mutation_p.Q124E|GRB10_ENST00000398810.2_Missense_Mutation_p.Q66E|GRB10_ENST00000407526.1_Missense_Mutation_p.Q66E|GRB10_ENST00000401949.1_Missense_Mutation_p.Q124E|GRB10_ENST00000357271.5_Missense_Mutation_p.Q124E|GRB10_ENST00000335866.3_Missense_Mutation_p.Q66E|GRB10_ENST00000406641.1_Missense_Mutation_p.Q66E|GRB10_ENST00000402497.1_Missense_Mutation_p.Q66E|GRB10_ENST00000439599.1_Missense_Mutation_p.Q118E|GRB10_ENST00000402578.1_Missense_Mutation_p.Q66E			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	124					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCTTCCTCCTGAAGGCGCCTG	0.577									Russell-Silver syndrome				6	12					0	0	0	0	C	50737553	G	C	50737553	3	2	429	1	0	0	0	0	1	0	0	0	6806	1299	45	2	1466	2	GRB10	7	50737553	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2645117	50737553	108401110	330	84597											
ZNF107	51427	broad.mit.edu	37	chr7	64167169	64167169	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaagccctacaaatgtGaagaatgtggcaaagccttt	16	8	10	7	0	0	3	0	1	0	2	0	4	0	3	2	1	3	1	2	1	7	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:64167169G>T	ENST00000395391.1	+	4	1862	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	ZNF107_ENST00000344930.3_Nonsense_Mutation_p.E163*|ZNF107_ENST00000423627.1_Nonsense_Mutation_p.E163*			Q9UII5	ZN107_HUMAN	zinc finger protein 107	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTACAAATGTGAAGAATGTGG	0.378													21	46					1.96292e-10	2.02503e-10	1	0	T	64167169	G	T	64167169	4	4	429	1	0	0	0	0	0	1	0	0	17810	1291	45	2	493	2	ZNF107	7	64167169	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	13429616	64167169	94971494	331	84598											
POM121	9883	broad.mit.edu	37	chr7	72413417	72413417	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccaagtccccgctcccatCatatccgggagccaaccccc	8	5	7	21	3	1	0	1	0	0	0	4	1	4	1	8	1	2	1	8	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:72413417C>G	ENST00000395270.1	+	14	3131	c.2090C>G	c.(2089-2091)tCa>tGa	p.S697*	POM121_ENST00000257622.4_Nonsense_Mutation_p.S697*|POM121_ENST00000446813.1_Nonsense_Mutation_p.S697*|POM121_ENST00000358357.3_Nonsense_Mutation_p.S697*|POM121_ENST00000434423.2_Nonsense_Mutation_p.S962*	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	962	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCGCTCCCATCATATCCGGGA	0.672													16	108					0	0	0	0	G	72413417	C	G	72413417	4	3	429	1	0	0	0	0	0	1	0	0	12311	838	29	2	2128	2	POM121	7	72413417	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8246248	72413417	86725246	332	84599											
SRCRB4D	136853	broad.mit.edu	37	chr7	76029627	76029627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acacaggacagccacatcctCgtagtgaaagcaattgtgga	14	7	10	10	1	0	1	0	1	0	0	2	3	1	3	2	2	2	2	2	2	3	2	rs146956663		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:76029627C>G	ENST00000275560.3	-	4	798	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	151	SRCR 1.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCACATCCTCGTAGTGAAAG	0.627													11	79					0	0	0	0	G	76029627	C	G	76029627	3	3	429	1	0	0	0	0	1	0	0	0	15227	893	31	3	1308	3	SRCRB4D	7	76029627	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3616210	76029627	83109036	333	84600											
PTPN12	5782	broad.mit.edu	37	chr7	77267946	77267946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgttgctacttagatcatCcagcgggaggtattcactat	9	14	10	8	1	2	1	2	0	0	1	3	2	3	2	1	2	3	3	1	2	4	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:77267946C>T	ENST00000248594.6	+	17	2451	c.2179C>T	c.(2179-2181)Cca>Tca	p.P727S	PTPN12_ENST00000415482.2_Missense_Mutation_p.P608S|PTPN12_ENST00000435495.2_Missense_Mutation_p.P597S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	727						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CTTAGATCATCCAGCGGGAGG	0.348													57	48					0	0	0	0	T	77267946	C	T	77267946	3	4	429	1	0	0	0	0	1	0	0	0	12861	855	30	2	2245	2	PTPN12	7	77267946	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1238319	77267946	81870717	334	84601											
PCLO	27445	broad.mit.edu	37	chr7	82451948	82451948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacggagatggccttctgatGatgattttgagctaccagga	11	11	12	7	1	1	5	0	4	1	1	1	7	1	6	2	3	3	1	2	3	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:82451948G>A	ENST00000423517.2	-	20	14991	c.14654C>T	c.(14653-14655)tCa>tTa	p.S4885L	PCLO_ENST00000333891.8_Missense_Mutation_p.S4885L|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4747					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTTCTGATGATGATTTTGA	0.488													76	241					0	0	0	0	A	82451948	G	A	82451948	3	1	429	1	0	0	0	0	1	0	0	0	11654	1294	45	2	815	2	PCLO	7	82451948	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5184002	82451948	76686715	335	84602											
SLC25A40	55972	broad.mit.edu	37	chr7	87485655	87485655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtctaattttaacaacatCcaggggtgtcactatgaaga	14	11	9	7	0	2	2	1	1	1	1	3	3	3	2	1	2	2	0	1	2	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:87485655C>T	ENST00000341119.5	-	4	455	c.109G>A	c.(109-111)Gat>Aat	p.D37N		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	37					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTAACAACATCCAGGGGTGTC	0.338													7	142					0	0	0	0	T	87485655	C	T	87485655	3	4	429	1	0	0	0	0	1	0	0	0	14593	855	30	2	943	2	SLC25A40	7	87485655	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5033707	87485655	71653008	336	84603											
AKAP9	10142	broad.mit.edu	37	chr7	91622237	91622237	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgattcttattctgaacaAggagcacaagacagtccgac	14	9	9	9	1	2	3	0	2	2	1	3	6	3	4	1	1	2	1	1	1	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:91622237A>G	ENST00000359028.2	+	6	705	c.480A>G	c.(478-480)caA>caG	p.Q160Q	AKAP9_ENST00000394564.1_Silent_p.Q148Q|AKAP9_ENST00000358100.2_Silent_p.Q160Q|AKAP9_ENST00000356239.3_Silent_p.Q148Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	160					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTCTGAACAAGGAGCACAAG	0.388			T	BRAF	papillary thyroid								23	27					0	0	0	0	G	91622237	A	G	91622237	2	3	429	1	0	0	0	0	0	0	0	1	459	69	3	5		5	AKAP9	7	91622237	Silent	SNP	A	TCGA-HL-7533-01A-11D-2229-08	4136582	91622237	67516426	337	84604											
KRIT1	889	broad.mit.edu	37	chr7	91843283	91843283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaggtacgatggattttaGattttcttcactgtaagcac	12	14	8	7	1	2	1	1	0	1	1	2	3	2	2	0	2	3	3	0	2	4	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:91843283G>C	ENST00000394507.1	-	17	2524	c.1741C>G	c.(1741-1743)Cta>Gta	p.L581V	KRIT1_ENST00000394505.2_Missense_Mutation_p.L581V|KRIT1_ENST00000412043.2_Missense_Mutation_p.L581V|KRIT1_ENST00000394503.2_Missense_Mutation_p.L533V|KRIT1_ENST00000340022.2_Missense_Mutation_p.L581V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	581	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGGATTTTAGATTTTCTTCA	0.338													12	73					0	0	0	0	C	91843283	G	C	91843283	3	2	429	1	0	0	0	0	1	0	0	0	8497	933	33	2	485	2	KRIT1	7	91843283	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	221046	91843283	67295380	338	84605											
SAMD9L	219285	broad.mit.edu	37	chr7	92761646	92761646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgtggaaaaagggagtGagctgaagaatctggatagt	13	11	14	3	0	2	3	0	2	2	1	2	6	2	6	0	3	1	1	0	3	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:92761646G>A	ENST00000318238.4	-	5	4855	c.3639C>T	c.(3637-3639)ctC>ctT	p.L1213L	SAMD9L_ENST00000437805.1_Silent_p.L1213L|SAMD9L_ENST00000411955.1_Silent_p.L1213L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1213										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAAGGGAGTGAGCTGAAGAA	0.388													11	120					0	0	0	0	A	92761646	G	A	92761646	2	1	429	1	0	0	0	0	0	0	0	1	13912	1277	45	2		2	SAMD9L	7	92761646	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	918363	92761646	66377017	339	84606											
CCDC132	55610	broad.mit.edu	37	chr7	92940524	92940524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagaaatcagattacagtCtaaataaagtgaatgcacct	18	9	8	6	0	2	3	1	1	1	2	2	4	2	4	1	1	2	1	1	1	8	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:92940524C>G	ENST00000544910.1	+	21	1925	c.1705C>G	c.(1705-1707)Cta>Gta	p.L569V	CCDC132_ENST00000535481.1_Missense_Mutation_p.L319V|CCDC132_ENST00000541136.1_Missense_Mutation_p.L410V|CCDC132_ENST00000305866.5_Missense_Mutation_p.L599V|CCDC132_ENST00000317751.6_Missense_Mutation_p.L330V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	599										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGATTACAGTCTAAATAAAGT	0.308													39	112					0	0	0	0	G	92940524	C	G	92940524	3	3	429	1	0	0	0	0	1	0	0	0	2792	912	32	2	1915	2	CCDC132	7	92940524	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	178878	92940524	66198139	340	84607											
TMEM130	222865	broad.mit.edu	37	chr7	98457825	98457825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccgaagtcccagctgtaGagaaacaaggcggtcttgag	11	7	12	11	2	1	2	0	1	1	1	3	4	3	2	3	2	2	2	3	2	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:98457825G>A	ENST00000450876.1	-	3	1591	c.276C>T	c.(274-276)ctC>ctT	p.L92L	TMEM130_ENST00000546258.1_Silent_p.L157L|TMEM130_ENST00000416379.2_Silent_p.L176L|TMEM130_ENST00000345589.4_Silent_p.L74L|TMEM130_ENST00000339375.4_Silent_p.L176L			Q8N3G9	TM130_HUMAN	transmembrane protein 130	176						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGCTGTAGAGAAACAAGG	0.607													25	22					0	0	0	0	A	98457825	G	A	98457825	2	1	429	1	0	0	0	0	0	0	0	1	16137	929	33	2		2	TMEM130	7	98457825	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5517301	98457825	60680838	341	84608											
TRRAP	8295	broad.mit.edu	37	chr7	98545961	98545961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagcgggcgatgctgatcGaggtaagggccatactgaag	10	6	17	8	4	0	2	0	2	0	0	1	5	0	3	1	4	3	2	1	4	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:98545961G>A	ENST00000359863.4	+	33	4854	c.4645G>A	c.(4645-4647)Gag>Aag	p.E1549K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1531K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1530K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1549					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GATGCTGATCGAGGTAAGGGC	0.502													5	71					0	0	0	0	A	98545961	G	A	98545961	3	1	429	1	0	0	0	0	1	0	0	0	16696	1059	37	1	4713	1	TRRAP	7	98545961	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	88136	98545961	60592702	342	84609											
GIGYF1	64599	broad.mit.edu	37	chr7	100284283	100284283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caatctcaccagggctggcgGagcgccagcggtcgccgtct	6	6	14	15	5	2	0	1	0	2	0	4	1	2	1	3	4	2	1	3	4	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:100284283G>C	ENST00000275732.5	-	7	1892	c.683C>G	c.(682-684)tCc>tGc	p.S228C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	228										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGGCTGGCGGAGCGCCAGCG	0.692													32	102					0	0	0	0	C	100284283	G	C	100284283	3	2	429	1	0	0	0	0	1	0	0	0	6428	1174	41	2	2496	2	GIGYF1	7	100284283	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1738322	100284283	58854380	343	84610											
RELN	5649	broad.mit.edu	37	chr7	103155651	103155651	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgaagttttgtcttccatAaacatgtcaaaggcgatcct	11	13	7	10	1	2	1	1	1	1	0	4	2	4	1	3	1	1	1	3	1	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:103155651A>T	ENST00000428762.1	-	50	8259	c.8100T>A	c.(8098-8100)ttT>ttA	p.F2700L	RELN_ENST00000343529.5_Missense_Mutation_p.F2700L|RELN_ENST00000424685.2_Missense_Mutation_p.F2700L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2700					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTCTTCCATAAACATGTCAA	0.498													9	29					0	0	0	0	T	103155651	A	T	103155651	3	4	429	1	0	0	0	0	1	0	0	0	13302	359	13	5	2346	5	RELN	7	103155651	Missense_Mutation	SNP	A	TCGA-HL-7533-01A-11D-2229-08	2871368	103155651	55983012	344	84611											
CDHR3	222256	broad.mit.edu	37	chr7	105672938	105672938	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaagagtccagccaccaggGagctgccccacgcagagtca	12	3	12	14	1	1	2	1	0	0	2	2	4	2	3	5	1	3	2	5	1	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:105672938G>C	ENST00000542731.1	+	19	2561	c.2453G>C	c.(2452-2454)gGa>gCa	p.G818A	CDHR3_ENST00000317716.9_Missense_Mutation_p.G818A|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.G730A			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	818					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCCACCAGGGAGCTGCCCCA	0.527													6	37					0	0	0	0	C	105672938	G	C	105672938	3	2	429	1	0	0	0	0	1	0	0	0	3149	1174	41	2	2527	2	CDHR3	7	105672938	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2517287	105672938	53465725	345	84612											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431594	117431594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggagaaggagtttgggaGagccctggcttttttggagg	7	11	19	4	0	0	2	0	0	0	2	0	6	0	4	1	7	1	2	1	7	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:117431594G>A	ENST00000160373.3	-	4	1747	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	552	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGTTTGGGAGAGCCCTGGCT	0.517													75	78					0	0	0	0	A	117431594	G	A	117431594	2	1	429	1	0	0	0	0	0	0	0	1	4077	929	33	2		2	CTTNBP2	7	117431594	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11758656	117431594	41707069	346	84613											
CCDC136	64753	broad.mit.edu	37	chr7	128446796	128446796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaccagaacgtcacatgtGagaaggaaaagctgctggaa	16	5	12	8	1	1	2	1	1	0	2	1	5	1	4	1	2	4	3	1	2	5	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:128446796G>A	ENST00000297788.4	+	9	1670	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.E382K|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	435						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CGTCACATGTGAGAAGGAAAA	0.592													8	7					0	0	0	0	A	128446796	G	A	128446796	3	1	429	1	0	0	0	0	1	0	0	0	2795	1291	45	2	1337	2	CCDC136	7	128446796	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11015202	128446796	30691867	347	84614											
PLXNA4	91584	broad.mit.edu	37	chr7	131878881	131878881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccgacacacagccacgcaGatctccacgaagcctgcatg	11	4	10	16	3	1	1	0	0	1	1	2	3	1	1	4	1	3	2	4	1	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:131878881G>C	ENST00000359827.3	-	14	3758	c.2796C>G	c.(2794-2796)atC>atG	p.I932M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.I932M			Q9HCM2	PLXA4_HUMAN	plexin A4	932	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGCCACGCAGATCTCCACGA	0.587													22	38					0	0	0	0	C	131878881	G	C	131878881	3	2	429	1	0	0	0	0	1	0	0	0	12194	932	33	2	2964	2	PLXNA4	7	131878881	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3432085	131878881	27259782	348	84615											
PTN	5764	broad.mit.edu	37	chr7	136938251	136938251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcaggggatcttacatctCtgggtcttcatggtttgctt	5	17	11	8	0	4	0	1	0	3	0	5	1	4	1	0	4	3	3	0	4	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:136938251C>T	ENST00000348225.2	-	3	676	c.249G>A	c.(247-249)caG>caA	p.Q83Q	PTN_ENST00000393083.2_Silent_p.Q83Q	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	83					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTTACATCTCTGGGTCTTCA	0.522													29	28					0	0	0	0	T	136938251	C	T	136938251	2	4	429	1	0	0	0	0	0	0	0	1	12848	912	32	2		2	PTN	7	136938251	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5059370	136938251	22200412	349	84616											
UBN2	254048	broad.mit.edu	37	chr7	138946092	138946092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattagaaaattccagaaaGagaaggatgcattaaagaag	20	8	10	3	0	0	5	0	1	0	4	1	7	1	6	1	1	1	1	1	1	8	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:138946092G>A	ENST00000288561.8	+	6	1000	c.751G>A	c.(751-753)Gag>Aag	p.E251K	UBN2_ENST00000473989.2_Missense_Mutation_p.E334K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	334										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTCCAGAAAGAGAAGGATGC	0.423													13	21					0	0	0	0	A	138946092	G	A	138946092	3	1	429	1	0	0	0	0	1	0	0	0	16989	943	33	2	1022	2	UBN2	7	138946092	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2007841	138946092	20192571	350	84617											
MGAM	8972	broad.mit.edu	37	chr7	141763322	141763322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaatgaaccatcaagcttCgtgaatggggcagtttctcc	11	11	10	9	1	2	3	1	3	1	0	4	3	2	3	2	2	2	3	2	2	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:141763322C>T	ENST00000475668.2	+	36	4335	c.4281C>T	c.(4279-4281)ttC>ttT	p.F1427F	MGAM_ENST00000549489.2_Silent_p.F1427F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1427	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATCAAGCTTCGTGAATGGGG	0.493													6	11					0	0	0	0	T	141763322	C	T	141763322	2	4	429	1	0	0	0	0	0	0	0	1	9610	883	31	1		1	MGAM	7	141763322	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2817230	141763322	17375341	351	84618											
OR9A2	135924	broad.mit.edu	37	chr7	142724050	142724050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgaggaagaaatacatgGgggactgcagacgtttatcc	12	8	14	7	1	0	3	0	1	0	2	1	5	1	5	1	4	2	3	1	4	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:142724050G>C	ENST00000350513.2	-	1	232	c.170C>G	c.(169-171)cCc>cGc	p.P57R		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAAATACATGGGGGACTGCAG	0.438													38	48					0	0	0	0	C	142724050	G	C	142724050	3	2	429	1	0	0	0	0	1	0	0	0	11319	1232	43	4	766	4	OR9A2	7	142724050	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	960728	142724050	16414613	352	84619											
TAS2R40	259286	broad.mit.edu	37	chr7	142919576	142919576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttgttcttcctgatgaaGaggaaaatcatagtgctgat	11	14	9	7	0	2	4	1	3	1	1	3	5	3	5	2	1	1	2	2	1	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:142919576G>C	ENST00000408947.3	+	1	447	c.405G>C	c.(403-405)aaG>aaC	p.K135N		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	135					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCCTGATGAAGAGGAAAATCA	0.423													44	39					0	0	0	0	C	142919576	G	C	142919576	3	2	429	1	0	0	0	0	1	0	0	0	15669	933	33	2	407	2	TAS2R40	7	142919576	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	195526	142919576	16219087	353	84620											
ZNF786	136051	broad.mit.edu	37	chr7	148769549	148769549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttagtttttcctgaattCatagcctgctggcttcctgc	5	18	7	11	0	1	1	1	1	0	0	3	1	3	1	3	1	3	3	3	1	3	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:148769549C>T	ENST00000316286.9	-	3	329	c.57G>A	c.(55-57)atG>atA	p.M19I	ZNF786_ENST00000491431.1_Missense_Mutation_p.M105I|ZNF786_ENST00000451334.3_Missense_Mutation_p.M68I			Q8N393	ZN786_HUMAN	zinc finger protein 786	105	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCCTGAATTCATAGCCTGCT	0.453													5	5					0	0	0	0	T	148769549	C	T	148769549	3	4	429	1	0	0	0	0	1	0	0	0	18251	826	29	2	2037	2	ZNF786	7	148769549	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5849973	148769549	10369114	354	84621											
KCNH2	3757	broad.mit.edu	37	chr7	150649526	150649526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccacctcctcagagccaGagccgaagatgagcaggtcg	11	4	11	15	2	1	4	1	1	0	3	3	5	2	4	6	1	3	1	6	1	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:150649526G>A	ENST00000392968.2	-	4	2376	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	KCNH2_ENST00000330883.4_Missense_Mutation_p.S175F|KCNH2_ENST00000430723.3_Missense_Mutation_p.S515F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S515F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	515					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTCAGAGCCAGAGCCGAAGAT	0.647													9	15					0	0	0	0	A	150649526	G	A	150649526	3	1	429	1	0	0	0	0	1	0	0	0	8085	942	33	2	2244	2	KCNH2	7	150649526	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1879977	150649526	8489137	355	84622											
ESYT2	57488	broad.mit.edu	37	chr7	158557395	158557395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcattccactttggactGaggttctccttgatgactct	7	16	7	11	0	3	3	1	3	2	0	5	4	4	4	2	2	0	1	2	2	0	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:158557395G>A	ENST00000251527.5	-	9	1283	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	434	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						ACTTTGGACTGAGGTTCTCCT	0.512													41	37					0	0	0	0	A	158557395	G	A	158557395	2	1	429	1	0	0	0	0	0	0	0	1	5303	1277	45	2		2	ESYT2	7	158557395	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7907869	158557395	581268	356	84623											
DEFB134	613211	broad.mit.edu	37	chr8	11851606	11851606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttatagcatttcttgtgCatttctgatgataatgaatt	10	21	6	4	0	2	3	0	3	2	0	2	3	2	3	0	0	2	2	0	0	4	9	rs148694123		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:11851606C>T	ENST00000526438.1	-	2	144	c.84G>A	c.(82-84)atG>atA	p.M28I	DEFB134_ENST00000382205.4_Missense_Mutation_p.M28I	NM_001033019.1	NP_001028191.1	Q4QY38	DB134_HUMAN	defensin, beta 134	28					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		ATTTCTTGTGCATTTCTGATG	0.358													12	32					0	0	0	0	T	11851606	C	T	11851606	3	4	429	1	0	0	0	0	1	0	0	0	4455	710	25	4	119	4	DEFB134	8	11851606	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08		11851606	134512416	357	84624											
ESCO2	157570	broad.mit.edu	37	chr8	27634137	27634137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagaaagctgataaaagaGagtagatctacttgtctaaa	18	9	10	4	0	2	4	0	1	2	3	2	7	2	4	0	0	2	2	0	0	7	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:27634137G>C	ENST00000305188.8	+	3	550	c.312G>C	c.(310-312)gaG>gaC	p.E104D	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	104					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGATAAAAGAGAGTAGATCTA	0.368									SC Phocomelia syndrome				10	39					0	0	0	0	C	27634137	G	C	27634137	3	2	429	1	0	0	0	0	1	0	0	0	5287	933	33	2	318	2	ESCO2	8	27634137	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	15782531	27634137	118729885	358	84625											
KIF13B	23303	broad.mit.edu	37	chr8	29033588	29033588	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaaaacaaacttactttGagcagccaagtgagaactga	20	7	7	7	0	0	3	0	3	0	1	0	4	0	3	1	0	6	1	1	0	8	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:29033588G>C	ENST00000524189.1	-	10	980	c.942C>G	c.(940-942)ctC>ctG	p.L314L	KIF13B_ENST00000521515.1_Silent_p.L314L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	314					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACTTACTTTGAGCAGCCAAG	0.418													10	9					0	0	0	0	C	29033588	G	C	29033588	2	2	429	1	0	0	0	0	0	0	0	1	8326	1277	45	2		2	KIF13B	8	29033588	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1399451	29033588	117330434	359	84626											
NRG1	3084	broad.mit.edu	37	chr8	32505742	32505742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgtctcctttgaaccatCagcggcaccgacaccgaaga	10	9	9	13	3	2	2	1	1	1	1	3	4	2	2	4	1	2	2	4	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:32505742C>T	ENST00000520502.2	+	1	506	c.506C>T	c.(505-507)tCa>tTa	p.S169L	NRG1_ENST00000523079.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	426	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTGAACCATCAGCGGCACCG	0.517													8	106					0	0	0	0	T	32505742	C	T	32505742	3	4	429	1	0	0	0	0	1	0	0	0	10718	838	29	2	1781	2	NRG1	8	32505742	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3472154	32505742	113858280	360	84627											
PXDNL	137902	broad.mit.edu	37	chr8	52320924	52320924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgattattctggacggtGaaaagagcgctttatggaac	11	12	11	7	2	1	3	0	2	1	1	1	5	1	5	1	3	2	1	1	3	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:52320924G>A	ENST00000356297.4	-	17	3360	c.3260C>T	c.(3259-3261)tCa>tTa	p.S1087L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S1087L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1087					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTGGACGGTGAAAAGAGCGC	0.507													26	40					0	0	0	0	A	52320924	G	A	52320924	3	1	429	1	0	0	0	0	1	0	0	0	12930	1294	45	2	1159	2	PXDNL	8	52320924	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	19815182	52320924	94043098	361	84628											
TRAM1	23471	broad.mit.edu	37	chr8	71520408	71520408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctcagcactggggggctCttggtgcttttcttgcgaat	4	14	14	9	1	3	0	1	0	2	0	3	1	3	0	0	5	3	4	0	5	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:71520408C>T	ENST00000262213.2	-	1	196	c.27G>A	c.(25-27)aaG>aaA	p.K9K	TRAM1_ENST00000536748.1_Intron|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	9					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTGGGGGGCTCTTGGTGCTTT	0.642													39	62					0	0	0	0	T	71520408	C	T	71520408	2	4	429	1	0	0	0	0	0	0	0	1	16546	912	32	2		2	TRAM1	8	71520408	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	19199484	71520408	74843614	362	84629											
KCNB2	9312	broad.mit.edu	37	chr8	73850006	73850006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaggaggagcttcactGaaatagatactggtgacgac	14	7	14	6	1	1	4	1	2	0	2	1	9	1	6	0	3	2	1	0	3	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:73850006G>A	ENST00000523207.1	+	3	3004	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	806					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGCTTCACTGAAATAGATAC	0.527													19	41					0	0	0	0	A	73850006	G	A	73850006	3	1	429	1	0	0	0	0	1	0	0	0	8066	1291	45	2	2422	2	KCNB2	8	73850006	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2329598	73850006	72514016	363	84630											
TMEM67	91147	broad.mit.edu	37	chr8	94768086	94768086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatttgtaaaaagtgcccaGaaaacatggtgcgcataatt	15	12	8	6	1	0	1	0	0	0	1	0	1	0	1	1	1	3	2	1	1	7	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:94768086G>A	ENST00000453321.3	+	2	362	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	102					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAAGTGCCCAGAAAACATGGT	0.249													4	12					0	0	0	0	A	94768086	G	A	94768086	3	1	429	1	0	0	0	0	1	0	0	0	16290	943	33	2	310	2	TMEM67	8	94768086	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	20918080	94768086	51595936	364	84631											
KIAA1429	25962	broad.mit.edu	37	chr8	95556119	95556119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggggtatgactcggacttCattgatataaaccacacatg	12	11	10	8	1	1	2	1	2	0	0	2	3	1	3	1	3	1	1	1	3	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:95556119C>T	ENST00000297591.5	-	2	190	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	KIAA1429_ENST00000421249.2_Missense_Mutation_p.E39K|KIAA1429_ENST00000437199.1_Missense_Mutation_p.E39K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	39					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACTCGGACTTCATTGATATAA	0.408													61	145					0	0	0	0	T	95556119	C	T	95556119	3	4	429	1	0	0	0	0	1	0	0	0	8282	835	29	2	5469	2	KIAA1429	8	95556119	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	788033	95556119	50807903	365	84632											
MATN2	4147	broad.mit.edu	37	chr8	98991144	98991144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtgcctcagaaaaccacgGatgtgaacatgagtgtgtaa	13	9	11	8	1	1	3	1	2	0	1	1	4	1	4	2	1	3	1	2	1	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:98991144G>A	ENST00000254898.5	+	6	1220	c.989G>A	c.(988-990)gGa>gAa	p.G330E	MATN2_ENST00000521689.1_Missense_Mutation_p.G330E|MATN2_ENST00000520016.1_Missense_Mutation_p.G330E|MATN2_ENST00000522025.2_Missense_Mutation_p.G46E|MATN2_ENST00000524308.1_Missense_Mutation_p.G330E	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	330	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GAAAACCACGGATGTGAACAT	0.428													11	29					0	0	0	0	A	98991144	G	A	98991144	3	1	429	1	0	0	0	0	1	0	0	0	9403	1174	41	2	1007	2	MATN2	8	98991144	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3435025	98991144	47372878	366	84633											
KCNS2	3788	broad.mit.edu	37	chr8	99440755	99440755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggacaaccccggctactCagtgctgagcagggtcttca	8	8	12	13	1	3	1	2	1	1	0	3	2	3	2	2	3	4	4	2	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:99440755C>T	ENST00000287042.4	+	2	898	c.548C>T	c.(547-549)tCa>tTa	p.S183L	KCNS2_ENST00000521839.1_Missense_Mutation_p.S183L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	183						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCCGGCTACTCAGTGCTGAGC	0.592													5	64					0	0	0	0	T	99440755	C	T	99440755	3	4	429	1	0	0	0	0	1	0	0	0	8142	838	29	2	550	2	KCNS2	8	99440755	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	449611	99440755	46923267	367	84634											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457547	110457547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attctgttagtgttgtggtgGgaagtaaaggcttggctctg	7	15	15	4	0	2	0	0	0	2	0	2	1	2	1	0	4	0	5	0	4	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:110457547G>A	ENST00000378402.5	+	38	5553	c.5449G>A	c.(5449-5451)Gga>Aga	p.G1817R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1817	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTTGTGGTGGGAAGTAAAGG	0.473										HNSCC(38;0.096)			27	67					0	0	0	0	A	110457547	G	A	110457547	3	1	429	1	0	0	0	0	1	0	0	0	12044	1233	43	4	5599	4	PKHD1L1	8	110457547	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11016792	110457547	35906475	368	84635											
CSMD3	114788	broad.mit.edu	37	chr8	114031338	114031338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggtatcgatgattgctgtCtgtaacaaaatgcagtctga	12	12	10	7	2	2	2	0	2	2	0	3	3	2	2	0	1	3	4	0	1	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:114031338C>T	ENST00000297405.5	-	6	1232	c.988G>A	c.(988-990)Gac>Aac	p.D330N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D330N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D330N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D290N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	330	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATTGCTGTCTGTAACAAAA	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	78					0	0	0	0	T	114031338	C	T	114031338	3	4	429	1	0	0	0	0	1	0	0	0	3978	913	32	2	10399	2	CSMD3	8	114031338	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3573791	114031338	32332684	369	84636											
FER1L6	654463	broad.mit.edu	37	chr8	125035787	125035787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctattcccctgtcgCggggcagatgggcaaacact	7	9	10	15	2	1	1	0	0	1	1	4	1	3	1	4	3	1	2	4	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:125035787C>T	ENST00000522917.1	+	18	2443	c.2237C>T	c.(2236-2238)gCg>gTg	p.A746V	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A746V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	746						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCCCTGTCGCGGGGCAGATG	0.493													25	117					0	0	0	0	T	125035787	C	T	125035787	3	4	429	1	0	0	0	0	1	0	0	0	5860	768	27	1	2303	1	FER1L6	8	125035787	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	11004449	125035787	21328235	370	84637											
GSDMC	56169	broad.mit.edu	37	chr8	130760899	130760899	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgatggccaaaccctCactctggagtggggcgagga	10	7	15	9	1	2	1	1	1	1	0	2	4	2	3	2	6	1	0	2	6	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:130760899C>A	ENST00000276708.4	-	14	2256	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	459						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GCCAAACCCTCACTCTGGAGT	0.547													17	81					2.94398e-08	3.01688e-08	1	0	A	130760899	C	A	130760899	4	1	429	1	0	0	0	0	0	1	0	0	6868	835	29	2	155	2	GSDMC	8	130760899	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5725112	130760899	15603123	371	84638											
ASAP1	50807	broad.mit.edu	37	chr8	131179784	131179784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatgtaaaccacttacttCtttctgatccagttgaagag	13	13	6	9	0	2	3	0	2	2	1	3	3	3	3	2	0	3	2	2	0	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:131179784C>G	ENST00000357668.1	-	10	934	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.E303Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	303					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCACTTACTTCTTTCTGATCC	0.383													58	219					0	0	0	0	G	131179784	C	G	131179784	3	3	429	1	0	0	0	0	1	0	0	0	1014	922	32	2	2562	2	ASAP1	8	131179784	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	418885	131179784	15184238	372	84639											
TG	7038	broad.mit.edu	37	chr8	133883682	133883682	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctacctccctcagtgtcagGattcaggggactacgcgcct	7	9	10	15	2	3	0	3	0	0	0	4	2	4	2	4	3	2	0	4	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:133883682G>C	ENST00000220616.4	+	4	404	c.364G>C	c.(364-366)Gat>Cat	p.D122H	TG_ENST00000377869.1_Missense_Mutation_p.D122H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	122	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGTGTCAGGATTCAGGGGA	0.552													30	78					0	0	0	0	C	133883682	G	C	133883682	3	2	429	1	0	0	0	0	1	0	0	0	15907	1174	41	2	378	2	TG	8	133883682	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2703898	133883682	12480340	373	84640											
SLC45A4	57210	broad.mit.edu	37	chr8	142238343	142238343	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttggacgggacagccctGaggctgggcttgctttcccc	4	11	13	13	1	1	1	0	1	1	0	2	3	2	3	3	4	2	3	3	4	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:142238343G>C	ENST00000519067.1	-	1	326	c.23C>G	c.(22-24)tCa>tGa	p.S8*	SLC45A4_ENST00000517878.1_Intron|SLC45A4_ENST00000433583.2_Intron|SLC45A4_ENST00000024061.3_Nonsense_Mutation_p.S8*			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGACAGCCCTGAGGCTGGGCT	0.547													36	112					0	0	0	0	C	142238343	G	C	142238343	4	2	429	1	0	0	0	0	0	1	0	0	14731	1294	45	2	2405	2	SLC45A4	8	142238343	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	8354661	142238343	4125679	374	84641											
EPPK1	83481	broad.mit.edu	37	chr8	144943051	144943051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttaaacctccctgtgctGacgggcaccttcatggccct	6	10	8	17	1	1	1	1	1	0	0	2	1	2	1	5	2	2	2	5	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:144943051G>A	ENST00000525985.1	-	2	4442	c.4371C>T	c.(4369-4371)gtC>gtT	p.V1457V				P58107	EPIPL_HUMAN	epiplakin 1	1457						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCTGTGCTGACGGGCACCT	0.617													17	25					0	0	0	0	A	144943051	G	A	144943051	2	1	429	1	0	0	0	0	0	0	0	1	5228	1277	45	2		2	EPPK1	8	144943051	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2704708	144943051	1420971	375	84642											
PLEC	5339	broad.mit.edu	37	chr8	144991626	144991626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctcccgcttcttctccttCagcggcaagagacacaggcc	7	8	9	17	3	3	1	1	0	2	1	5	2	4	1	3	2	1	3	3	2	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:144991626C>T	ENST00000322810.4	-	32	12943	c.12774G>A	c.(12772-12774)ctG>ctA	p.L4258L	PLEC_ENST00000398774.2_Silent_p.L4089L|PLEC_ENST00000345136.3_Silent_p.L4121L|PLEC_ENST00000354958.2_Silent_p.L4099L|PLEC_ENST00000357649.2_Silent_p.L4125L|PLEC_ENST00000356346.3_Silent_p.L4107L|PLEC_ENST00000354589.3_Silent_p.L4121L|PLEC_ENST00000436759.2_Silent_p.L4148L|PLEC_ENST00000527096.1_Silent_p.L4144L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4258	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTTCTCCTTCAGCGGCAAGA	0.602													8	78					0	0	0	0	T	144991626	C	T	144991626	2	4	429	1	0	0	0	0	0	0	0	1	12124	813	29	2		2	PLEC	8	144991626	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	48575	144991626	1372396	376	84643											
PLEC	5339	broad.mit.edu	37	chr8	145024688	145024688	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaccaggcaaaggtctCgcggaccaggccccgtgccc	7	4	14	16	3	1	0	0	0	1	0	2	1	1	1	5	5	1	2	5	5	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:145024688C>A	ENST00000322810.4	-	1	356	c.187G>T	c.(187-189)Gag>Tag	p.E63*	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	63	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAAAGGTCTCGCGGACCAGG	0.682													3	15					0.004672	0.0046982	1	0	A	145024688	C	A	145024688	4	1	429	1	0	0	0	0	0	1	0	0	12124	893	31	3	14375	3	PLEC	8	145024688	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	33062	145024688	1339334	377	84644											
SLC39A4	55630	broad.mit.edu	37	chr8	145640112	145640112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggcgtgggcactcactctCtgactggctgagctggtcct	4	11	13	13	2	2	2	1	2	1	0	5	2	3	2	1	4	1	3	1	4	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:145640112C>G	ENST00000276833.5	-	4	1201	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	SLC39A4_ENST00000301305.3_Missense_Mutation_p.E325Q	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	325						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CACTCACTCTCTGACTGGCTG	0.652													18	54					0	0	0	0	G	145640112	C	G	145640112	3	3	429	1	0	0	0	0	1	0	0	0	14708	922	32	2	1002	2	SLC39A4	8	145640112	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	615424	145640112	723910	378	84645											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773815	145773815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaagctgggctcccgatCagcgaccttgatgagcatgc	9	7	14	11	2	1	2	1	2	0	0	2	6	2	3	2	2	4	3	2	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:145773815C>T	ENST00000276826.5	-	4	856	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.D219N|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.D219N			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	219					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCTCCCGATCAGCGACCTTG	0.701													15	27					0	0	0	0	T	145773815	C	T	145773815	3	4	429	1	0	0	0	0	1	0	0	0	886	826	29	2	2721	2	ARHGAP39	8	145773815	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	133703	145773815	590207	379	84646											
FOXD4	2298	broad.mit.edu	37	chr9	117881	117881	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaactcggtgccaaactctGaggggtcgctcgggccgccg	6	7	15	13	5	1	2	0	2	1	0	4	2	1	2	3	4	3	1	3	4	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:117881G>C	ENST00000382500.2	-	1	536	c.239C>G	c.(238-240)tCa>tGa	p.S80*		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	80					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCAAACTCTGAGGGGTCGCT	0.711													80	107					0	0	0	0	C	117881	G	C	117881	4	2	429	1	0	0	0	0	0	1	0	0	6044	1294	45	2	1084	2	FOXD4	9	117881	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		117881	141095550	380	84647											
DOCK8	81704	broad.mit.edu	37	chr9	434937	434937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtatctgagcatgctggagGaccacagctacctgcccgtg	9	8	12	12	1	1	1	0	1	1	0	1	3	1	3	3	2	5	4	3	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:434937G>A	ENST00000432829.2	+	39	5153	c.4837G>A	c.(4837-4839)Gac>Aac	p.D1613N	DOCK8_ENST00000469391.1_Missense_Mutation_p.D1581N|DOCK8_ENST00000382329.1_Missense_Mutation_p.D1148N|DOCK8_ENST00000453981.1_Missense_Mutation_p.D1681N	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1681	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATGCTGGAGGACCACAGCTA	0.577													16	61					0	0	0	0	A	434937	G	A	434937	3	1	429	1	0	0	0	0	1	0	0	0	4729	1174	41	2	5195	2	DOCK8	9	434937	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	317056	434937	140778494	381	84648											
DMRT2	10655	broad.mit.edu	37	chr9	1057048	1057048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaaatcgggtcctgagttGaaaacaccatttgtcaaaga	15	9	9	8	1	1	3	1	2	0	1	3	4	2	3	2	1	1	1	2	1	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:1057048G>C	ENST00000382251.3	+	5	1790	c.1461G>C	c.(1459-1461)ttG>ttC	p.L487F	DMRT2_ENST00000302441.6_Missense_Mutation_p.L487F|DMRT2_ENST00000358146.2_Missense_Mutation_p.L487F|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	487					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GTCCTGAGTTGAAAACACCAT	0.408													33	83					0	0	0	0	C	1057048	G	C	1057048	3	2	429	1	0	0	0	0	1	0	0	0	4623	1281	45	2	1528	2	DMRT2	9	1057048	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	622111	1057048	140156383	382	84649											
FREM1	158326	broad.mit.edu	37	chr9	14797546	14797546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatgacctctactgaaatGgttttaagtatcttatgttt	10	17	9	5	0	2	2	0	2	2	0	2	3	2	3	1	2	1	3	1	2	5	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:14797546G>A	ENST00000380881.4	-	22	4607	c.3792C>T	c.(3790-3792)acC>acT	p.T1264T	FREM1_ENST00000380880.3_Silent_p.T1263T|FREM1_ENST00000422223.2_Silent_p.T1263T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1263					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTACTGAAATGGTTTTAAGTA	0.378													18	72					0	0	0	0	A	14797546	G	A	14797546	2	1	429	1	0	0	0	0	0	0	0	1	6092	1335	47	4		4	FREM1	9	14797546	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	13740498	14797546	126415885	383	84650											
MTAP	4507	broad.mit.edu	37	chr9	21818161	21818161	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccttgagggaggagattCagcccggcgatattgtcatt	8	11	13	9	2	2	2	2	1	0	1	3	5	3	3	2	3	1	1	2	3	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:21818161C>T	ENST00000380172.4	+	4	513	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	MTAP_ENST00000460874.2_Nonsense_Mutation_p.Q120*|MTAP_ENST00000580900.1_Nonsense_Mutation_p.Q103*|RP11-145E5.5_ENST00000404796.2_Nonsense_Mutation_p.Q103*|MTAP_ENST00000427788.2_3'UTR	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	103					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	GGAGGAGATTCAGCCCGGCGA	0.453													16	46					0	0	0	0	T	21818161	C	T	21818161	4	4	429	1	0	0	0	0	0	1	0	0	9981	827	29	2	321	2	MTAP	9	21818161	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	7020615	21818161	119395270	384	84651											
TOPORS	10210	broad.mit.edu	37	chr9	32543655	32543655	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taatctgtgaaggcaagctgGatttctacggaaaaattcag	14	11	10	6	1	3	1	1	1	2	0	3	3	3	3	0	3	2	2	0	3	6	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:32543655G>C	ENST00000360538.2	-	3	984	c.868C>G	c.(868-870)Cca>Gca	p.P290A	TOPORS_ENST00000379858.1_Missense_Mutation_p.P225A	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	290	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGGCAAGCTGGATTTCTACGG	0.393													22	53					0	0	0	0	C	32543655	G	C	32543655	3	2	429	1	0	0	0	0	1	0	0	0	16465	1174	41	2	2273	2	TOPORS	9	32543655	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10725494	32543655	108669776	385	84652											
TLN1	7094	broad.mit.edu	37	chr9	35715160	35715160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccgctgctgctgctcctCactgtcagggtgggcagctg	4	9	14	14	1	2	0	2	0	0	0	3	0	3	0	2	2	5	6	2	2	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:35715160C>G	ENST00000314888.9	-	21	3003	c.2650G>C	c.(2650-2652)Gag>Cag	p.E884Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E884Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	884					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGCTCCTCACTGTCAGGG	0.602													22	39					0	0	0	0	G	35715160	C	G	35715160	3	3	429	1	0	0	0	0	1	0	0	0	16041	835	29	2	5123	2	TLN1	9	35715160	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3171505	35715160	105498271	386	84653											
TOMM5	401505	broad.mit.edu	37	chr9	37592509	37592509	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccgggtccagcttcggcgcGaggccctcaatccggaacat	7	7	12	15	5	1	0	1	0	0	0	5	2	4	1	4	4	2	1	4	4	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:37592509G>C	ENST00000377773.5	-	1	85	c.21C>G	c.(19-21)ctC>ctG	p.L7L	RP11-613M10.9_ENST00000540557.1_Intron|TOMM5_ENST00000321301.6_Silent_p.L7L|TOMM5_ENST00000401811.3_Silent_p.L7L|TOMM5_ENST00000544379.1_Silent_p.L7L	NM_001134484.1|NM_001134485.1	NP_001127956.1|NP_001127957.1	Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	7						integral to membrane|mitochondrial outer membrane translocase complex											GCTTCGGCGCGAGGCCCTCAA	0.632													18	30					0	0	0	0	C	37592509	G	C	37592509	2	2	429	1	0	0	0	0	0	0	0	1	16454	1045	37	3		3	TOMM5	9	37592509	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1877349	37592509	103620922	387	84654											
SHC3	53358	broad.mit.edu	37	chr9	91652995	91652995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcccgggttggtggtgctCttcctgaccaggaagtctcc	5	10	14	12	1	2	1	0	1	2	0	4	3	3	2	4	4	2	2	4	4	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:91652995C>T	ENST00000375835.4	-	11	1875	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	SHC3_ENST00000375830.1_Silent_p.K71K|SHC3_ENST00000375831.1_Silent_p.K71K	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	523	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGGTGGTGCTCTTCCTGACCA	0.607													60	144					0	0	0	0	T	91652995	C	T	91652995	2	4	429	1	0	0	0	0	0	0	0	1	14360	912	32	2		2	SHC3	9	91652995	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	54060486	91652995	49560436	388	84655											
WNK2	65268	broad.mit.edu	37	chr9	96051216	96051216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccctcctgtgactgctCtgccccaagatggagcagct	6	9	9	17	0	1	2	0	1	1	1	3	3	3	3	6	1	4	3	6	1	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:96051216C>G	ENST00000297954.4	+	20	4291	c.4291C>G	c.(4291-4293)Ctg>Gtg	p.L1431V	WNK2_ENST00000427277.2_Missense_Mutation_p.L1006V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.L1394V|WNK2_ENST00000349097.3_Missense_Mutation_p.L1043V|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1431					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGTGACTGCTCTGCCCCAAGA	0.682													13	7					0	0	0	0	G	96051216	C	G	96051216	3	3	429	1	0	0	0	0	1	0	0	0	17474	912	32	2	4254	2	WNK2	9	96051216	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4398221	96051216	45162215	389	84656											
PTCH1	5727	broad.mit.edu	37	chr9	98209310	98209310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaggcacgtgggggtcctCaaacaggccgtggtcagtct	9	7	15	10	2	3	0	2	0	1	0	4	1	4	0	2	5	1	1	2	5	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:98209310C>G	ENST00000430669.2	-	23	4615	c.4030G>C	c.(4030-4032)Gag>Cag	p.E1344Q	PTCH1_ENST00000418258.1_Missense_Mutation_p.E1259Q|PTCH1_ENST00000331920.6_Missense_Mutation_p.E1410Q|PTCH1_ENST00000375274.2_Missense_Mutation_p.E1409Q|PTCH1_ENST00000437951.1_Missense_Mutation_p.E1344Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E1259Q|PTCH1_ENST00000421141.1_Missense_Mutation_p.E1259Q			Q13635	PTC1_HUMAN	patched 1	1410					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGGGGGTCCTCAAACAGGCCG	0.672													37	70					0	0	0	0	G	98209310	C	G	98209310	3	3	429	1	0	0	0	0	1	0	0	0	12809	835	29	2	119	2	PTCH1	9	98209310	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2158094	98209310	43004121	390	84657											
EPB41L4B	54566	broad.mit.edu	37	chr9	111938841	111938841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgacctacctggctgccaGagaaacaggtttccgggtgg	8	8	13	12	1	0	2	0	1	0	1	1	3	1	2	5	4	3	2	5	4	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:111938841G>C	ENST00000374566.3	-	25	3140	c.2623C>G	c.(2623-2625)Ctg>Gtg	p.L875V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	875						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGCTGCCAGAGAAACAGGT	0.562													6	37					0	0	0	0	C	111938841	G	C	111938841	3	2	429	1	0	0	0	0	1	0	0	0	5194	933	33	2	87	2	EPB41L4B	9	111938841	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	13729531	111938841	29274590	391	84658											
C9orf152	401546	broad.mit.edu	37	chr9	112963737	112963737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attgaccatcgattctgcagGagcaggtgtgtttcctcctg	7	13	11	10	1	1	1	0	1	1	0	4	3	3	2	3	2	2	3	3	2	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:112963737G>C	ENST00000400613.4	-	2	820	c.211C>G	c.(211-213)Cct>Gct	p.P71A	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	71										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GATTCTGCAGGAGCAGGTGTG	0.532													3	43					0	0	0	0	C	112963737	G	C	112963737	3	2	429	1	0	0	0	0	1	0	0	0	2488	1174	41	2	512	2	C9orf152	9	112963737	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1024896	112963737	28249694	392	84659											
FKBP15	23307	broad.mit.edu	37	chr9	115969556	115969556	+	Frame_Shift_Del	DEL	T	T	-																															gctcatggtggctggtgctgTttttggtgttgcctgatttc																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:115969556delT	ENST00000238256.3	-	3	307	c.190delA	c.(190-192)cafs	p.T64fs	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	64					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGGTGCTGTTTTTGGTGTT	0.418													8	325	---	---	---	---					-	115969556	T	-	115969556	7	5	429	1	0	1	0	1	0	0	0	0	5950	1725	60	0	3573	0	FKBP15	9	115969556	Frame_Shift_Del	DEL	T	TCGA-HL-7533-01A-11D-2229-08	3005819	115969556	25243875	393	84660											
AKNA	80709	broad.mit.edu	37	chr9	117139665	117139665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcataccccaaccttgagGagctctctccagcctcctca	8	9	5	19	0	3	1	2	1	1	0	6	2	5	2	7	1	4	1	7	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:117139665G>A	ENST00000307564.4	-	3	583	c.422C>T	c.(421-423)tCc>tTc	p.S141F	AKNA_ENST00000374075.5_Missense_Mutation_p.S60F|AKNA_ENST00000312033.3_Missense_Mutation_p.S141F|AKNA_ENST00000374088.3_Missense_Mutation_p.S141F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAACCTTGAGGAGCTCTCTCC	0.622													18	40					0	0	0	0	A	117139665	G	A	117139665	3	1	429	1	0	0	0	0	1	0	0	0	463	1174	41	2	3977	2	AKNA	9	117139665	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1170109	117139665	24073766	394	84661											
C5	727	broad.mit.edu	37	chr9	123739145	123739145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagagctgtctttatgctGaagattgtctttccaaaaac	12	14	7	8	0	2	3	0	1	2	2	3	3	3	3	1	0	4	2	1	0	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:123739145G>T	ENST00000223642.1	-	29	3726	c.3697C>A	c.(3697-3699)Cag>Aag	p.Q1233K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1233					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCTTTATGCTGAAGATTGTCT	0.338													4	63					0.00024832	0.000251121	1	0	T	123739145	G	T	123739145	3	4	429	1	0	0	0	0	1	0	0	0	2301	1299	45	2	1385	2	C5	9	123739145	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6599480	123739145	17474286	395	84662											
NTNG2	84628	broad.mit.edu	37	chr9	135116365	135116365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcttctgcgagtgccgcGagggcgcggcgggccccaag	4	4	18	15	7	1	0	0	0	1	0	1	2	1	0	4	4	2	1	4	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:135116365G>A	ENST00000393229.3	+	7	2067	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000360670.3_Missense_Mutation_p.E437K|NTNG2_ENST00000393228.4_Missense_Mutation_p.E423K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	431	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGAGTGCCGCGAGGGCGCGGC	0.721													7	22					0	0	0	0	A	135116365	G	A	135116365	3	1	429	1	0	0	0	0	1	0	0	0	10776	1059	37	1	1313	1	NTNG2	9	135116365	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11377220	135116365	6097066	396	84663											
C9orf171	389799	broad.mit.edu	37	chr9	135447846	135447846	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagcccaccgggaagaGtgtgccgtgcgccaggggac	10	5	15	11	3	0	1	0	0	0	1	0	3	0	3	4	3	3	0	4	3	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:135447846G>A	ENST00000343036.2	+	7	960	c.912G>A	c.(910-912)gaG>gaA	p.E304E	C9orf171_ENST00000393216.2_Silent_p.E268E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	304										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						ACCGGGAAGAGTGTGCCGTGC	0.607													30	38					0	0	0	0	A	135447846	G	A	135447846	2	1	429	1	0	0	0	0	0	0	0	1	2495	1020	36	4		4	C9orf171	9	135447846	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	331481	135447846	5765585	397	84664											
KCNT1	57582	broad.mit.edu	37	chr9	138662202	138662202	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcgctgctccggcaacGaggtgtaccacatccgcatg	8	7	13	13	4	0	0	0	0	0	0	2	1	2	0	3	3	3	5	3	3	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:138662202G>T	ENST00000298480.5	+	17	1752	c.1678G>T	c.(1678-1680)Gag>Tag	p.E560*	KCNT1_ENST00000263604.3_Nonsense_Mutation_p.E541*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.E560*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.E541*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.E527*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.E521*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.E515*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.E541*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	560						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCCGGCAACGAGGTGTACCA	0.657													18	70					2.35188e-11	2.43563e-11	1	0	T	138662202	G	T	138662202	4	4	429	1	0	0	0	0	0	1	0	0	8144	1059	37	3	1744	3	KCNT1	9	138662202	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3214356	138662202	2551229	398	84665											
NDOR1	27158	broad.mit.edu	37	chr9	140108741	140108741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtagctcaccccggctctCaggagcccccgtcagagtcg	6	6	13	16	3	3	1	3	0	1	1	5	2	3	2	4	3	2	3	4	3	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:140108741C>G	ENST00000371521.4	+	6	681	c.598C>G	c.(598-600)Cag>Gag	p.Q200E	NDOR1_ENST00000344894.5_Missense_Mutation_p.Q200E|NDOR1_ENST00000427047.2_Missense_Mutation_p.Q166E|NDOR1_ENST00000458322.2_Missense_Mutation_p.Q200E	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	200					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCCCGGCTCTCAGGAGCCCCC	0.642													16	44					0	0	0	0	G	140108741	C	G	140108741	3	3	429	1	0	0	0	0	1	0	0	0	10319	827	29	2	620	2	NDOR1	9	140108741	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1446539	140108741	1104690	399	84666											
ENTPD8	377841	broad.mit.edu	37	chr9	140330690	140330690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtggtctggtagccgctGaggtagcacgggtgacggag	7	8	19	7	3	1	2	0	2	1	0	1	3	1	3	1	5	2	4	1	5	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:140330690G>A	ENST00000371506.2	-	7	1008	c.825C>T	c.(823-825)ctC>ctT	p.L275L	ENTPD8_ENST00000344119.2_Silent_p.L275L|ENTPD8_ENST00000472938.1_Silent_p.L275L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	275						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTAGCCGCTGAGGTAGCACG	0.706													11	18					0	0	0	0	A	140330690	G	A	140330690	2	1	429	1	0	0	0	0	0	0	0	1	5183	1277	45	2		2	ENTPD8	9	140330690	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	221949	140330690	882741	400	84667											
SFMBT2	57713	broad.mit.edu	37	chr10	7217983	7217983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtatgaatggagcagttCtctgggcagttttcagatat	9	15	12	5	0	2	2	1	1	1	1	3	3	2	3	0	3	1	5	0	3	3	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:7217983C>T	ENST00000361972.4	-	17	2043	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	SFMBT2_ENST00000397167.1_Silent_p.E651E	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	651					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGAGCAGTTCTCTGGGCAGT	0.423													49	107					0	0	0	0	T	7217983	C	T	7217983	2	4	429	1	0	0	0	0	0	0	0	1	14245	912	32	2		2	SFMBT2	10	7217983	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08		7217983	128316764	401	84668											
ITIH5	80760	broad.mit.edu	37	chr10	7684025	7684025	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgatggtagacttcactGagaattctgtcatcaaaggt	14	12	9	6	0	4	3	3	2	1	2	4	4	4	3	0	2	0	1	0	2	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:7684025G>C	ENST00000256861.6	-	3	242	c.164C>G	c.(163-165)tCa>tGa	p.S55*	ITIH5_ENST00000397145.2_Nonsense_Mutation_p.S55*|ITIH5_ENST00000397146.2_Nonsense_Mutation_p.S55*|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	55	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGACTTCACTGAGAATTCTGT	0.423													16	45					0	0	0	0	C	7684025	G	C	7684025	4	2	429	1	0	0	0	0	0	1	0	0	7960	1294	45	2	2849	2	ITIH5	10	7684025	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	466042	7684025	127850722	402	84669											
FAM188A	80013	broad.mit.edu	37	chr10	15828635	15828635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggatctaatttattcttCatgagatttatactacgggg	10	17	8	6	1	4	1	1	1	3	1	4	3	4	2	0	3	2	0	0	3	5	9			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:15828635C>T	ENST00000378036.1	-	4	1332	c.156G>A	c.(154-156)atG>atA	p.M52I	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.M347I			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	347					apoptosis	nucleus	calcium ion binding	p.M347I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ATTTATTCTTCATGAGATTTA	0.323													22	34					0	0	0	0	T	15828635	C	T	15828635	3	4	429	1	0	0	0	0	1	0	0	0	5556	826	29	2	308	2	FAM188A	10	15828635	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8144610	15828635	119706112	403	84670											
GPR158	57512	broad.mit.edu	37	chr10	25887024	25887024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacagcacttatgaccaCgtgagagaccaaacggaaga	15	5	9	12	2	0	4	0	2	0	2	1	6	1	5	3	1	2	1	3	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:25887024C>T	ENST00000376351.3	+	11	2828	c.2469C>T	c.(2467-2469)caC>caT	p.H823H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	823						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						CTTATGACCACGTGAGAGACC	0.498													36	112					0	0	0	0	T	25887024	C	T	25887024	2	4	429	1	0	0	0	0	0	0	0	1	6712	535	19	1		1	GPR158	10	25887024	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	10058389	25887024	109647723	404	84671											
MYO3A	53904	broad.mit.edu	37	chr10	26463178	26463178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagaggccgtctgaggcatGagacagtcaaagagaggcaa	14	4	15	8	1	2	4	1	2	1	3	2	6	2	4	1	3	0	3	1	3	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:26463178G>C	ENST00000265944.5	+	30	4151	c.3985G>C	c.(3985-3987)Gag>Cag	p.E1329Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1329					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTGAGGCATGAGACAGTCAA	0.488													11	93					0	0	0	0	C	26463178	G	C	26463178	3	2	429	1	0	0	0	0	1	0	0	0	10146	1291	45	2	4095	2	MYO3A	10	26463178	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	576154	26463178	109071569	405	84672											
ARMC4	55130	broad.mit.edu	37	chr10	28250565	28250565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgcacttgcttcctgacGatggtcaggtggttcttcat	6	15	10	10	1	4	1	2	1	2	0	5	2	5	1	1	3	2	3	1	3	0	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:28250565G>A	ENST00000305242.5	-	10	1410	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C	ARMC4_ENST00000239715.3_Missense_Mutation_p.R297C|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.R132C	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	440							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTTCCTGACGATGGTCAGGT	0.398													15	36					0	0	0	0	A	28250565	G	A	28250565	3	1	429	1	0	0	0	0	1	0	0	0	957	1058	37	1	1860	1	ARMC4	10	28250565	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1787387	28250565	107284182	406	84673											
KIAA1462	57608	broad.mit.edu	37	chr10	30316127	30316127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgggcagtggttttgcgtCacttgatcttgaagacattc	7	13	12	9	3	2	3	1	2	1	1	3	3	2	3	0	2	1	2	0	2	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:30316127C>G	ENST00000375377.1	-	3	3051	c.2950G>C	c.(2950-2952)Gac>Cac	p.D984H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	984										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGTTTTGCGTCACTTGATCTT	0.527													46	98					0	0	0	0	G	30316127	C	G	30316127	3	3	429	1	0	0	0	0	1	0	0	0	8285	826	29	2	1137	2	KIAA1462	10	30316127	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2065562	30316127	105218620	407	84674											
KIF5B	3799	broad.mit.edu	37	chr10	32324561	32324561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaatgaatcttgaaggattCttgtcattttactatctcga	11	17	6	7	1	4	2	1	2	3	0	5	4	4	3	0	1	1	0	0	1	5	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:32324561C>T	ENST00000302418.4	-	10	1308	c.851G>A	c.(850-852)aGa>aAa	p.R284K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	284	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTGAAGGATTCTTGTCATTTT	0.313			T	"RET, ALK"	NSCLC								11	32					0	0	0	0	T	32324561	C	T	32324561	3	4	429	1	0	0	0	0	1	0	0	0	8357	913	32	2	2104	2	KIF5B	10	32324561	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2008434	32324561	103210186	408	84675											
OGDHL	55753	broad.mit.edu	37	chr10	50944441	50944441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccactttctcctccaggtCctggctgctccgctccttca	3	12	8	18	1	2	0	1	0	1	0	7	0	6	0	6	3	1	3	6	3	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:50944441C>G	ENST00000374103.4	-	21	2801	c.2716G>C	c.(2716-2718)Gac>Cac	p.D906H	OGDHL_ENST00000419399.1_Missense_Mutation_p.D849H|OGDHL_ENST00000432695.1_Missense_Mutation_p.D697H|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	906					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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						TCCTCCAGGTCCTGGCTGCTC	0.627													39	89					0	0	0	0	G	50944441	C	G	50944441	3	3	429	1	0	0	0	0	1	0	0	0	10911	855	30	2	328	2	OGDHL	10	50944441	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	18619880	50944441	84590306	409	84676											
PCDH15	65217	broad.mit.edu	37	chr10	55663095	55663095	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggggatgattattttCatcctgaatctcaatgtata	11	15	8	7	0	2	2	2	2	1	0	4	3	3	3	1	2	0	1	1	2	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:55663095C>A	ENST00000373965.2	-	27	3824	c.3430G>T	c.(3430-3432)Gaa>Taa	p.E1144*	PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E748*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1137*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1100*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1144*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1137*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1066*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1137*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1142*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E1137*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1115*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1137	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			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)				TGATTATTTTCATCCTGAATC	0.388										HNSCC(58;0.16)			15	31					2.48551e-13	2.58646e-13	1	0	A	55663095	C	A	55663095	4	1	429	1	0	0	0	0	0	1	0	0	11582	835	29	2	4109	2	PCDH15	10	55663095	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4718654	55663095	79871652	410	84677											
PCDH15	65217	broad.mit.edu	37	chr10	56287638	56287638	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccctagctagtttgcaatCtaaagagagaaaataaccaa	17	9	6	9	0	1	2	0	0	1	2	2	3	2	2	3	0	3	3	3	0	9	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:56287638C>G	ENST00000373965.2	-	3	486		c.e3-1		PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395442.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395433.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGTTTGCAATCTAAAGAGAGA	0.328										HNSCC(58;0.16)			10	35					0	0	0	0	G	56287638	C	G	56287638	5	3	429	1	0	0	0	0	0	0	1	0	11582	927	32	2	7544	2	PCDH15	10	56287638	Splice_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08	624543	56287638	79247109	411	84678											
TTC18	118491	broad.mit.edu	37	chr10	75090940	75090940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggggcatatttaccttttCagttttgccagctttccctt	6	17	8	10	0	1	0	1	0	0	0	2	0	2	0	3	2	3	3	3	2	2	9			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:75090940C>T	ENST00000401621.2	-	9	1102	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E328K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.E328K|TTC18_ENST00000340329.3_Intron			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	328							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTTACCTTTTCAGTTTTGCCA	0.403													5	10					0	0	0	0	T	75090940	C	T	75090940	3	4	429	1	0	0	0	0	1	0	0	0	16781	835	29	2	2463	2	TTC18	10	75090940	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	18803302	75090940	60443807	412	84679											
VCL	7414	broad.mit.edu	37	chr10	75868828	75868828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggatgaagagttccctGagcagaaggccggggaggtg	13	5	17	6	1	0	4	0	2	0	2	1	6	1	6	2	5	1	2	2	5	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:75868828G>A	ENST00000211998.4	+	18	2753	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	VCL_ENST00000417648.2_Missense_Mutation_p.E148K|VCL_ENST00000372755.3_Missense_Mutation_p.E887K	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	887	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGAGTTCCCTGAGCAGAAGGC	0.547													19	36					0	0	0	0	A	75868828	G	A	75868828	3	1	429	1	0	0	0	0	1	0	0	0	17235	1291	45	2	2729	2	VCL	10	75868828	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	777888	75868828	59665919	413	84680											
POLR3A	11128	broad.mit.edu	37	chr10	79785418	79785418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctctgaagtaccctacatGaaaacacggcaactccaggt	13	8	8	12	1	1	2	0	2	1	0	2	2	2	2	2	2	5	3	2	2	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:79785418G>A	ENST00000372371.3	-	3	417	c.280C>T	c.(280-282)Cat>Tat	p.H94Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	94					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TACCCTACATGAAAACACGGC	0.483													29	75					0	0	0	0	A	79785418	G	A	79785418	3	1	429	1	0	0	0	0	1	0	0	0	12300	1290	45	2	4008	2	POLR3A	10	79785418	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3916590	79785418	55749329	414	84681											
GLUD1	2746	broad.mit.edu	37	chr10	88819941	88819941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aataaccataatgtttctctCcaggaagatcttgtcagctt	12	14	6	9	0	3	1	1	0	2	1	5	2	4	2	2	1	2	2	2	1	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:88819941C>T	ENST00000277865.4	-	9	1351	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	GLUD1_ENST00000537649.1_Missense_Mutation_p.E252K|GLUD1_ENST00000544149.1_Missense_Mutation_p.E286K	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	419					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATGTTTCTCTCCAGGAAGATC	0.398													34	63					0	0	0	0	T	88819941	C	T	88819941	3	4	429	1	0	0	0	0	1	0	0	0	6527	864	30	2	441	2	GLUD1	10	88819941	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	9034523	88819941	46714806	415	84682											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389941	93389941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtaagaaatgcagaactCaattttctgctcagttggaa	14	12	9	6	0	3	2	2	0	1	2	3	3	3	3	0	2	3	4	0	2	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:93389941C>G	ENST00000238994.5	-	2	781	c.697G>C	c.(697-699)Gag>Cag	p.E233Q		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	233	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ATGCAGAACTCAATTTTCTGC	0.403													26	68					0	0	0	0	G	93389941	C	G	93389941	3	3	429	1	0	0	0	0	1	0	0	0	12449	835	29	2	260	2	PPP1R3C	10	93389941	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4570000	93389941	42144806	416	84683											
TNKS2	80351	broad.mit.edu	37	chr10	93614860	93614860	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgtctcctgatgataaaGagtttcagtctgtggaggaa	11	13	11	6	0	4	3	1	2	3	1	5	5	4	5	1	2	0	1	1	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:93614860G>C	ENST00000371627.4	+	22	3269	c.2890G>C	c.(2890-2892)Gag>Cag	p.E964Q		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	964	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGATGATAAAGAGTTTCAGTC	0.338													6	21					0	0	0	0	C	93614860	G	C	93614860	3	2	429	1	0	0	0	0	1	0	0	0	16415	943	33	2	2976	2	TNKS2	10	93614860	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	224919	93614860	41919887	417	84684											
IDE	3416	broad.mit.edu	37	chr10	94291603	94291603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacattcttctcatgttctGaatcaactgcattcacctct	9	16	3	13	0	7	1	4	1	4	0	8	1	7	1	1	0	2	2	1	0	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:94291603G>A	ENST00000265986.6	-	4	619	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	188					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCATGTTCTGAATCAACTGC	0.403													21	26					0	0	0	0	A	94291603	G	A	94291603	3	1	429	1	0	0	0	0	1	0	0	0	7546	1294	45	2	2584	2	IDE	10	94291603	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	676743	94291603	41243144	418	84685											
EXOSC1	51013	broad.mit.edu	37	chr10	99205728	99205728	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccggggatgcagtatctCacaggtggcgccatgattgc	8	10	13	10	2	1	1	1	1	1	0	2	2	1	2	2	4	3	2	2	4	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:99205728C>T	ENST00000370902.3	-	1	46	c.15G>A	c.(13-15)gtG>gtA	p.V5V	EXOSC1_ENST00000485122.2_Silent_p.V5V|EXOSC1_ENST00000370886.5_Silent_p.V5V|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370885.4_Silent_p.V5V	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	5					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		TGCAGTATCTCACAGGTGGCG	0.557											OREG0020413	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	46					0	0	0	0	T	99205728	C	T	99205728	2	4	429	1	0	0	0	0	0	0	0	1	5350	813	29	2		2	EXOSC1	10	99205728	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4914125	99205728	36329019	419	84686											
ZFYVE27	118813	broad.mit.edu	37	chr10	99510111	99510111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctgagtacagggcatctCtgcagcagaggatgaaccca	11	8	12	10	0	2	3	0	2	2	1	3	4	2	4	1	2	4	4	1	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:99510111C>G	ENST00000393677.4	+	7	892	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	ZFYVE27_ENST00000359980.3_Missense_Mutation_p.L230V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.L230V|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.L132V|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.L198V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.L144V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.L230V|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.L112V	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	230					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CAGGGCATCTCTGCAGCAGAG	0.542													20	43					0	0	0	0	G	99510111	C	G	99510111	3	3	429	1	0	0	0	0	1	0	0	0	17764	912	32	2	710	2	ZFYVE27	10	99510111	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	304383	99510111	36024636	420	84687											
LOXL4	84171	broad.mit.edu	37	chr10	100017517	100017517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtcgctgagggtccgctCatatcccctgcagcgcacct	6	8	11	16	3	1	1	1	1	0	0	4	1	3	1	4	1	2	5	4	1	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:100017517C>T	ENST00000260702.3	-	8	1300	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	384	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGGGTCCGCTCATATCCCCTG	0.592													39	64					0	0	0	0	T	100017517	C	T	100017517	3	4	429	1	0	0	0	0	1	0	0	0	8966	835	29	2	1152	2	LOXL4	10	100017517	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	507406	100017517	35517230	421	84688											
DNMBP	23268	broad.mit.edu	37	chr10	101668784	101668784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtagtctctttctgtctGaagaagttcttctatgacct	9	17	7	8	0	5	3	0	2	5	1	6	3	5	3	1	0	0	2	1	0	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:101668784G>C	ENST00000342239.3	-	5	2471	c.2380C>G	c.(2380-2382)Cag>Gag	p.Q794E	DNMBP_ENST00000324109.4_Missense_Mutation_p.Q794E|DNMBP_ENST00000543621.1_Missense_Mutation_p.Q40E			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	794	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			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)		CTTTCTGTCTGAAGAAGTTCT	0.507													12	51					0	0	0	0	C	101668784	G	C	101668784	3	2	429	1	0	0	0	0	1	0	0	0	4710	1299	45	2	2405	2	DNMBP	10	101668784	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1651267	101668784	33865963	422	84689											
PAX2	5076	broad.mit.edu	37	chr10	102568884	102568884	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caggggaacgagtactccctCccagccctgacccctgggct	7	6	11	17	1	0	1	0	1	0	0	2	3	2	2	5	3	3	2	5	3	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:102568884C>G	ENST00000370296.2	+	8	1429	c.879C>G	c.(877-879)ctC>ctG	p.L293L	PAX2_ENST00000556085.1_Silent_p.L269L|PAX2_ENST00000361791.3_Silent_p.L270L|PAX2_ENST00000355243.3_Silent_p.L270L|PAX2_ENST00000428433.1_Silent_p.L293L			Q02962	PAX2_HUMAN	paired box 2	293					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGTACTCCCTCCCAGCCCTGA	0.567													49	83					0	0	0	0	G	102568884	C	G	102568884	2	3	429	1	0	0	0	0	0	0	0	1	11550	842	30	2		2	PAX2	10	102568884	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	900100	102568884	32965863	423	84690											
SORCS3	22986	broad.mit.edu	37	chr10	106918684	106918684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctgcacctgcaactctCtgaaaatccatattcctcag	12	11	4	14	0	3	1	1	1	2	0	6	1	5	1	3	0	3	2	3	0	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:106918684C>T	ENST00000369701.3	+	11	1891	c.1664C>T	c.(1663-1665)tCt>tTt	p.S555F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	555						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGCAACTCTCTGAAAATCCA	0.453													9	41					0	0	0	0	T	106918684	C	T	106918684	3	4	429	1	0	0	0	0	1	0	0	0	15020	913	32	2	1706	2	SORCS3	10	106918684	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4349800	106918684	28616063	424	84691											
GPAM	57678	broad.mit.edu	37	chr10	113928115	113928115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgataatgcgatcataggaGattccaacaggtattatcaa	15	11	8	7	2	2	1	2	0	0	1	4	4	3	1	1	2	2	1	1	2	6	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:113928115G>C	ENST00000348367.4	-	11	1259	c.1062C>G	c.(1060-1062)atC>atG	p.I354M	GPAM_ENST00000369425.1_Missense_Mutation_p.I354M|GPAM_ENST00000423155.1_Missense_Mutation_p.I354M			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	354					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GATCATAGGAGATTCCAACAG	0.403													23	42					0	0	0	0	C	113928115	G	C	113928115	3	2	429	1	0	0	0	0	1	0	0	0	6637	932	33	2	1472	2	GPAM	10	113928115	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7009431	113928115	21606632	425	84692											
NRAP	4892	broad.mit.edu	37	chr10	115372035	115372035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttggcacagctcagcctCaggtcttctgccaaggaagt	8	11	10	12	0	5	0	2	0	3	0	5	1	5	1	2	3	3	2	2	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:115372035C>T	ENST00000369358.4	-	30	3724	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	NRAP_ENST00000359988.3_Silent_p.L1152L|NRAP_ENST00000360478.3_Silent_p.L1117L|NRAP_ENST00000369360.3_Silent_p.L1125L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1152						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGCTCAGCCTCAGGTCTTCTG	0.557													26	43					0	0	0	0	T	115372035	C	T	115372035	2	4	429	1	0	0	0	0	0	0	0	1	10709	813	29	2		2	NRAP	10	115372035	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1443920	115372035	20162712	426	84693											
AFAP1L2	84632	broad.mit.edu	37	chr10	116059062	116059062	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttagctcccgtttctctttCcggagctgagccaggtgccc	4	13	10	14	2	1	1	0	1	1	0	4	2	3	2	4	2	4	3	4	2	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:116059062C>G	ENST00000369271.3	-	16	2370	c.2070G>C	c.(2068-2070)cgG>cgC	p.R690R	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Silent_p.R743R|AFAP1L2_ENST00000304129.4_Silent_p.R690R	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	690					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTTTCTCTTTCCGGAGCTGAG	0.562													34	62					0	0	0	0	G	116059062	C	G	116059062	2	3	429	1	0	0	0	0	0	0	0	1	355	842	30	2		2	AFAP1L2	10	116059062	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	687027	116059062	19475685	427	84694											
ABLIM1	3983	broad.mit.edu	37	chr10	116251568	116251568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgaagatacatttcctCtccttctgtgaacatctggt	9	15	6	11	0	3	3	0	2	3	1	5	3	4	3	3	1	2	0	3	1	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:116251568C>G	ENST00000369252.4	-	7	1085	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	ABLIM1_ENST00000369266.3_Missense_Mutation_p.E6Q|ABLIM1_ENST00000369253.2_Missense_Mutation_p.E6Q|ABLIM1_ENST00000277895.5_Missense_Mutation_p.E322Q|ABLIM1_ENST00000392952.3_Missense_Mutation_p.E6Q|ABLIM1_ENST00000533213.2_Missense_Mutation_p.E262Q	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	322	LIM zinc-binding 3.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TACATTTCCTCTCCTTCTGTG	0.453													26	55					0	0	0	0	G	116251568	C	G	116251568	3	3	429	1	0	0	0	0	1	0	0	0	94	922	32	2	1524	2	ABLIM1	10	116251568	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	192506	116251568	19283179	428	84695											
FAM160B1	57700	broad.mit.edu	37	chr10	116620558	116620558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttatctagactttctctCttccctcatccacacatcca	8	15	3	15	0	4	1	1	0	3	1	8	1	7	1	3	0	0	1	3	0	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:116620558C>T	ENST00000369248.4	+	15	2333	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L	FAM160B1_ENST00000369250.3_Silent_p.L666L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	666										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GACTTTCTCTCTTCCCTCATC	0.398													51	120					0	0	0	0	T	116620558	C	T	116620558	2	4	429	1	0	0	0	0	0	0	0	1	5511	900	32	2		2	FAM160B1	10	116620558	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	368990	116620558	18914189	429	84696											
BTBD16	118663	broad.mit.edu	37	chr10	124050611	124050611	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagccttcgccacggccctGaagaacctctacatgagtga	10	7	9	15	2	1	4	0	3	1	1	2	4	1	4	5	1	3	0	5	1	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:124050611G>A	ENST00000368994.2	+	7	746	c.495G>A	c.(493-495)ctG>ctA	p.L165L	BTBD16_ENST00000260723.4_Silent_p.L164L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	164	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCACGGCCCTGAAGAACCTCT	0.597													57	114					0	0	0	0	A	124050611	G	A	124050611	2	1	429	1	0	0	0	0	0	0	0	1	1549	1277	45	2		2	BTBD16	10	124050611	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7430053	124050611	11484136	430	84697											
CTBP2	1488	broad.mit.edu	37	chr10	126681792	126681792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgatggctcggcggatctCggtggcagctgcctccctca	4	10	14	13	3	2	1	1	1	1	0	5	2	3	2	2	5	2	3	2	5	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:126681792C>T	ENST00000309035.6	-	7	2768	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	CTBP2_ENST00000411419.2_Missense_Mutation_p.E340K|CTBP2_ENST00000494626.2_Missense_Mutation_p.E340K|CTBP2_ENST00000531469.1_Missense_Mutation_p.E340K|CTBP2_ENST00000334808.6_Missense_Mutation_p.E408K|CTBP2_ENST00000337195.5_Missense_Mutation_p.E340K	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	340					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGGCGGATCTCGGTGGCAGCT	0.632													6	18					0	0	0	0	T	126681792	C	T	126681792	3	4	429	1	0	0	0	0	1	0	0	0	4030	893	31	1	331	1	CTBP2	10	126681792	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2631181	126681792	8852955	431	84698											
UROS	7390	broad.mit.edu	37	chr10	127503692	127503692	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccccgtaatcttcaggaTgagaaagctgcacaccaaaa	14	7	8	12	1	2	1	1	1	1	1	3	3	3	2	3	1	2	3	3	1	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:127503692T>A	ENST00000368778.3	-	4	348	c.155A>T	c.(154-156)cAt>cTt	p.H52L	UROS_ENST00000368797.4_Missense_Mutation_p.H52L|UROS_ENST00000368774.1_Missense_Mutation_p.H52L|UROS_ENST00000368786.1_Missense_Mutation_p.H52L			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	52					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				ATCTTCAGGATGAGAAAGCTG	0.428													6	22					0	0	0	0	A	127503692	T	A	127503692	3	1	429	1	0	0	0	0	1	0	0	0	17126	1464	51	5	670	5	UROS	10	127503692	Missense_Mutation	SNP	T	TCGA-HL-7533-01A-11D-2229-08	821900	127503692	8031055	432	84699											
DOCK1	1793	broad.mit.edu	37	chr10	128840976	128840976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacgttagtctttgatgctCtggtaagagagctttccttc	8	15	9	9	1	2	2	0	1	2	1	4	3	3	2	1	1	2	4	1	1	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:128840976C>G	ENST00000280333.6	+	20	2144	c.2035C>G	c.(2035-2037)Ctg>Gtg	p.L679V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	679					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTTTGATGCTCTGGTAAGAGA	0.488													32	60					0	0	0	0	G	128840976	C	G	128840976	3	3	429	1	0	0	0	0	1	0	0	0	4720	912	32	2	2113	2	DOCK1	10	128840976	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1337284	128840976	6693771	433	84700											
PHRF1	57661	broad.mit.edu	37	chr11	607644	607644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggcgaggcacacgggcaGagagcgaggccagcagcagg	11	0	19	11	3	0	1	0	0	0	1	0	4	0	1	1	5	3	4	1	5	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:607644G>C	ENST00000264555.5	+	14	2316	c.2188G>C	c.(2188-2190)Gag>Cag	p.E730Q	PHRF1_ENST00000416188.2_Missense_Mutation_p.E729Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.E728Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E726Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	730							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CACACGGGCAGAGAGCGAGGC	0.741													10	53					0	0	0	0	C	607644	G	C	607644	3	2	429	1	0	0	0	0	1	0	0	0	11933	943	33	2	2235	2	PHRF1	11	607644	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		607644	134398872	434	84701											
RPLP2	6181	broad.mit.edu	37	chr11	812802	812802	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggaggagtctgaagagtCagatgatgacatgggatttg	13	9	16	3	0	2	5	1	3	1	2	2	9	2	8	0	3	0	0	0	3	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:812802C>G	ENST00000321153.4	+	5	708	c.314C>G	c.(313-315)tCa>tGa	p.S105*	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Nonsense_Mutation_p.S105*	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	105					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGAAGAGTCAGATGATGAC	0.478													20	40					0	0	0	0	G	812802	C	G	812802	4	3	429	1	0	0	0	0	0	1	0	0	13691	838	29	2	328	2	RPLP2	11	812802	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	205158	812802	134193714	435	84702											
AP2A2	161	broad.mit.edu	37	chr11	972223	972223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggagatggccgaggccttCgccggggagatccctaaggt	7	6	17	11	4	0	2	0	0	0	2	2	5	1	2	4	6	0	0	4	6	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:972223C>T	ENST00000448903.2	+	4	582	c.441C>T	c.(439-441)ttC>ttT	p.F147F	AP2A2_ENST00000332231.5_Silent_p.F147F|AP2A2_ENST00000534328.1_Silent_p.F147F	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	147					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGAGGCCTTCGCCGGGGAGA	0.622													3	8					0	0	0	0	T	972223	C	T	972223	2	4	429	1	0	0	0	0	0	0	0	1	741	883	31	1		1	AP2A2	11	972223	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	159421	972223	134034293	436	84703											
PGAP2	27315	broad.mit.edu	37	chr11	3845190	3845190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgtgtggcgtttctgcatCggcctgcactcggcgcctcg	3	11	13	14	6	1	0	0	0	1	0	4	0	1	0	2	3	3	3	2	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:3845190C>T	ENST00000396993.4	+	3	181	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	PGAP2_ENST00000396991.2_Silent_p.I142I|PGAP2_ENST00000465307.2_Missense_Mutation_p.R85W|PGAP2_ENST00000493547.2_Silent_p.I81I|PGAP2_ENST00000463452.2_Silent_p.I81I|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396986.2_Silent_p.I138I|PGAP2_ENST00000278243.4_Silent_p.I142I|PGAP2_ENST00000300730.6_Silent_p.I138I|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000532017.1_3'UTR			Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	266					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GTTTCTGCATCGGCCTGCACT	0.647													4	107					0	0	0	0	T	3845190	C	T	3845190	3	4	429	1	0	0	0	0	1	0	0	0	11850	875	31	1	615	1	PGAP2	11	3845190	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2872967	3845190	131161326	437	84704											
OR52I1	390037	broad.mit.edu	37	chr11	4616129	4616129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagctgacctgtacgtgatCatcccagccactttaaatcc	10	11	6	14	1	1	2	1	2	0	0	3	2	3	2	4	0	3	2	4	0	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:4616129C>T	ENST00000450052.2	+	2	933	c.933C>T	c.(931-933)atC>atT	p.I311I	OR52I1_ENST00000530443.2_Silent_p.I287I			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACGTGATCATCCCAGCCA	0.498													52	110					0	0	0	0	T	4616129	C	T	4616129	2	4	429	1	0	0	0	0	0	0	0	1	11191	816	29	2		2	OR52I1	11	4616129	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	770939	4616129	130390387	438	84705											
OR10A4	283297	broad.mit.edu	37	chr11	6898070	6898070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcctatgtacttcttcctCagaaacttgtccttcctgga	8	15	6	12	0	2	1	1	0	1	1	6	2	6	2	4	1	2	1	4	1	3	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:6898070C>T	ENST00000379829.2	+	1	215	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACTTCTTCCTCAGAAACTTGT	0.438													46	105					0	0	0	0	T	6898070	C	T	6898070	2	4	429	1	0	0	0	0	0	0	0	1	10963	813	29	2		2	OR10A4	11	6898070	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2281941	6898070	128108446	439	84706											
OR5P3	120066	broad.mit.edu	37	chr11	7846617	7846617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattctaagctctctcttCagagcccccttaatctcctt	7	17	3	14	0	5	1	1	0	4	1	7	1	5	1	3	0	2	1	3	0	3	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:7846617C>T	ENST00000328375.1	-	1	902	c.903G>A	c.(901-903)ctG>ctA	p.L301L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTCTCTCTTCAGAGCCCCCT	0.378													17	28					0	0	0	0	T	7846617	C	T	7846617	2	4	429	1	0	0	0	0	0	0	0	1	11250	813	29	2		2	OR5P3	11	7846617	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	948547	7846617	127159899	440	84707											
OR5P3	120066	broad.mit.edu	37	chr11	7846842	7846842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttggtggagtgcatcttCaggatggtgatgaggatata	9	12	14	6	0	2	2	1	2	1	0	2	5	2	5	1	5	1	1	1	5	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:7846842C>T	ENST00000328375.1	-	1	677	c.678G>A	c.(676-678)ctG>ctA	p.L226L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTGCATCTTCAGGATGGTGA	0.468													18	46					0	0	0	0	T	7846842	C	T	7846842	2	4	429	1	0	0	0	0	0	0	0	1	11250	813	29	2		2	OR5P3	11	7846842	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	225	7846842	127159674	441	84708											
SPON1	10418	broad.mit.edu	37	chr11	14276215	14276215	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaatgtggctgggtccaGaaggtggtgcaagacctgat	11	8	16	6	0	0	3	0	1	0	2	1	4	1	4	2	5	1	2	2	5	4	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:14276215G>A	ENST00000310358.7	+	0	1567							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GCTGGGTCCAGAAGGTGGTGC	0.572													5	58					0	0	0	0	A	14276215	G	A	14276215	1	1	429	0	1	0	0	0	0	0	0	0	15172	933	33	2		2	SPON1	11	14276215	RNA	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6429373	14276215	120730301	442	84709											
DBX1	120237	broad.mit.edu	37	chr11	20178090	20178090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttggagttccgccatttCatgcgtcggttctggaacca	6	13	10	12	3	2	0	1	0	1	0	5	2	4	2	4	3	2	2	4	3	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:20178090C>T	ENST00000524983.2	-	4	990	c.702G>A	c.(700-702)atG>atA	p.M234I	DBX1_ENST00000227256.3_Missense_Mutation_p.M273I			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	234					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCCGCCATTTCATGCGTCGGT	0.637													26	37					0	0	0	0	T	20178090	C	T	20178090	3	4	429	1	0	0	0	0	1	0	0	0	4292	826	29	2	333	2	DBX1	11	20178090	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5901875	20178090	114828426	443	84710											
ANO5	203859	broad.mit.edu	37	chr11	22261169	22261169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaatgaaagatacacaCttcaccagaattgggctcga	15	8	7	11	1	1	3	1	1	0	2	2	4	1	3	2	1	2	1	2	1	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:22261169C>T	ENST00000324559.8	+	9	1134	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	273						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATACACACTTCACCAGAA	0.403													28	89					0	0	0	0	T	22261169	C	T	22261169	3	4	429	1	0	0	0	0	1	0	0	0	699	565	20	4	851	4	ANO5	11	22261169	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2083079	22261169	112745347	444	84711											
TRIM44	54765	broad.mit.edu	37	chr11	35747621	35747621	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgagatactggcagacatCcaatcccacatggataggtt	13	9	9	10	0	0	2	0	1	0	2	2	4	2	3	2	3	1	2	2	3	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:35747621C>A	ENST00000299413.5	+	3	1204	c.897C>A	c.(895-897)atC>atA	p.I299I	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	299						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TGGCAGACATCCAATCCCACA	0.478													6	42					3.59834e-05	3.64577e-05	1	0	A	35747621	C	A	35747621	2	1	429	1	0	0	0	0	0	0	0	1	16614	845	30	2		2	TRIM44	11	35747621	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	13486452	35747621	99258895	445	84712											
API5	8539	broad.mit.edu	37	chr11	43345100	43345100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttggtggctgaacaggccGacctagaacagaccttcaat	12	8	11	10	1	1	3	1	1	0	2	1	4	1	3	3	3	2	2	3	3	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:43345100G>A	ENST00000378852.3	+	6	789	c.664G>A	c.(664-666)Gac>Aac	p.D222N	API5_ENST00000531273.1_Missense_Mutation_p.D222N|API5_ENST00000455725.2_Missense_Mutation_p.D211N|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.D168N|API5_ENST00000534600.1_Missense_Mutation_p.D222N	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	222					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TGAACAGGCCGACCTAGAACA	0.468													18	102					0	0	0	0	A	43345100	G	A	43345100	3	1	429	1	0	0	0	0	1	0	0	0	774	1058	37	1	686	1	API5	11	43345100	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7597479	43345100	91661416	446	84713											
OR5I1	10798	broad.mit.edu	37	chr11	55703727	55703727	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgaggatcaatcctgatCaacagcatcaatccaatgtt	14	10	8	9	0	3	2	3	2	0	0	5	3	5	3	2	2	2	2	2	2	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:55703727C>G	ENST00000301532.3	-	1	149	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	50			L -> S (in dbSNP:rs4367963).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L50L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAATCCTGATCAACAGCATCA	0.403													3	63					0	0	0	0	G	55703727	C	G	55703727	3	3	429	1	0	0	0	0	1	0	0	0	11235	825	29	2	797	2	OR5I1	11	55703727	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	12358627	55703727	79302789	447	84714											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235412	57235412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgacaaccggcacctgcgctCgctggagcccgacaccttcc	7	6	10	18	4	0	1	0	1	0	0	2	3	1	2	5	2	3	3	5	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:57235412C>G	ENST00000335099.3	+	2	679	c.362C>G	c.(361-363)tCg>tGg	p.S121W	RTN4RL2_ENST00000533205.1_Missense_Mutation_p.S121W|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.S121W	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	121					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CACCTGCGCTCGCTGGAGCCC	0.647													29	76					0	0	0	0	G	57235412	C	G	57235412	3	3	429	1	0	0	0	0	1	0	0	0	13817	893	31	3	368	3	RTN4RL2	11	57235412	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1531685	57235412	77771104	448	84715											
OR10Q1	219960	broad.mit.edu	37	chr11	57995911	57995911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccacccagcatctgcGtgcacagctcgcgggtcatg	6	6	13	16	3	2	0	1	0	1	0	3	0	2	0	3	2	4	3	3	2	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:57995911G>A	ENST00000316770.2	-	1	479	c.437C>T	c.(436-438)aCg>aTg	p.T146M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CAGCATCTGCGTGCACAGCTC	0.617													17	31					0	0	0	0	A	57995911	G	A	57995911	3	1	429	1	0	0	0	0	1	0	0	0	10987	1145	40	1	526	1	OR10Q1	11	57995911	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	760499	57995911	77010605	449	84716											
OR5B21	219968	broad.mit.edu	37	chr11	58275483	58275483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagcagggtgatgaggtaGatgaataaaaatgccaggag	16	6	14	5	0	0	4	0	3	0	1	0	5	0	5	2	3	2	2	2	3	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:58275483G>C	ENST00000360374.2	-	1	95	c.96C>G	c.(94-96)atC>atG	p.I32M		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TGATGAGGTAGATGAATAAAA	0.468													23	50					0	0	0	0	C	58275483	G	C	58275483	3	2	429	1	0	0	0	0	1	0	0	0	11222	932	33	2	835	2	OR5B21	11	58275483	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	279572	58275483	76731033	450	84717											
PRPF19	27339	broad.mit.edu	37	chr11	60658681	60658681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccatgcctgttgaaGcgatgaacttggcgtgatgc	7	13	12	9	2	1	3	0	3	1	0	2	4	2	3	2	1	4	1	2	1	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:60658681G>A	ENST00000227524.4	-	16	1677	c.1472C>T	c.(1471-1473)gCt>gTt	p.A491V		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	491					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GCCTGTTGAAGCGATGAACTT	0.547													13	21					0	0	0	0	A	60658681	G	A	60658681	3	1	429	1	0	0	0	0	1	0	0	0	12644	971	34	4	46	4	PRPF19	11	60658681	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2383198	60658681	74347835	451	84718											
TMEM132A	54972	broad.mit.edu	37	chr11	60703507	60703507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgagtggggcaggcgccGaggggctgccgctgcatgtg	4	7	21	9	3	0	1	0	1	0	0	0	2	0	1	2	6	2	4	2	6	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:60703507G>A	ENST00000005286.4	+	11	2356	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E734K	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	734	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCAGGCGCCGAGGGGCTGCC	0.741													7	21					0	0	0	0	A	60703507	G	A	60703507	3	1	429	1	0	0	0	0	1	0	0	0	16139	1059	37	1	2245	1	TMEM132A	11	60703507	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	44826	60703507	74303009	452	84719											
DNAJC4	3338	broad.mit.edu	37	chr11	63999398	63999398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatcctggtgccagcactGaggaagttaaacgagctttc	10	10	11	10	1	0	1	0	1	0	0	2	3	1	2	2	2	5	4	2	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:63999398G>A	ENST00000321685.3	+	3	607	c.142G>A	c.(142-144)Gag>Aag	p.E48K	DNAJC4_ENST00000321460.5_Missense_Mutation_p.E48K|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Missense_Mutation_p.E48K|RP11-783K16.14_ENST00000539963.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	48	J.				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						TGCCAGCACTGAGGAAGTTAA	0.557													22	34					0	0	0	0	A	63999398	G	A	63999398	3	1	429	1	0	0	0	0	1	0	0	0	4685	1291	45	2	148	2	DNAJC4	11	63999398	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3295891	63999398	71007118	453	84720											
ESRRA	2101	broad.mit.edu	37	chr11	64082613	64082613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacttagtcctggatgaaGagggggcacgggcagctggc	9	6	18	8	1	0	2	0	1	0	1	1	4	1	4	1	6	1	3	1	6	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:64082613G>C	ENST00000405666.1	+	6	1117	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	ESRRA_ENST00000406310.1_Missense_Mutation_p.E294Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.E295Q			P11474	ERR1_HUMAN	estrogen-related receptor alpha	295	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CCTGGATGAAGAGGGGGCACG	0.662													8	16					0	0	0	0	C	64082613	G	C	64082613	3	2	429	1	0	0	0	0	1	0	0	0	5298	943	33	2	901	2	ESRRA	11	64082613	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	83215	64082613	70923903	454	84721											
CCDC88B	283234	broad.mit.edu	37	chr11	64108793	64108793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggctactgttgggagcgtCagtacaggtgagccggcggt	6	9	17	9	4	1	1	1	1	0	0	2	2	1	2	1	5	4	3	1	5	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:64108793C>T	ENST00000356786.5	+	5	484	c.440C>T	c.(439-441)tCa>tTa	p.S147L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	147					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGGGAGCGTCAGTACAGGTG	0.602													24	49					0	0	0	0	T	64108793	C	T	64108793	3	4	429	1	0	0	0	0	1	0	0	0	2891	838	29	2	458	2	CCDC88B	11	64108793	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	26180	64108793	70897723	455	84722											
EHD1	10938	broad.mit.edu	37	chr11	64645870	64645870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacagctgccgcagcccctCagccaccgtctggaagagct	8	6	11	16	2	2	1	1	0	1	1	2	2	2	2	5	1	6	4	5	1	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:64645870C>T	ENST00000320631.3	-	1	321	c.67G>A	c.(67-69)Gag>Aag	p.E23K	EHD1_ENST00000359393.2_Missense_Mutation_p.E23K	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	23					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGCAGCCCCTCAGCCACCGTC	0.667													6	53					0	0	0	0	T	64645870	C	T	64645870	3	4	429	1	0	0	0	0	1	0	0	0	5013	835	29	2	1557	2	EHD1	11	64645870	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	537077	64645870	70360646	456	84723											
LTBP3	4054	broad.mit.edu	37	chr11	65319844	65319844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcagggctcaccaggCggaaacacaggctcttctcc	8	7	12	14	1	4	0	2	0	2	0	5	1	4	1	2	5	2	3	2	5	1	1	rs147206443		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:65319844C>T	ENST00000301873.5	-	7	1488	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	LTBP3_ENST00000322147.4_Missense_Mutation_p.R407H|LTBP3_ENST00000536982.1_Missense_Mutation_p.R33H	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	407	TB 2.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCTCACCAGGCGGAAACACAG	0.677											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	76					0	0	0	0	T	65319844	C	T	65319844	3	4	429	1	0	0	0	0	1	0	0	0	9139	768	27	1	2779	1	LTBP3	11	65319844	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	673974	65319844	69686672	457	84724											
KAT5	10524	broad.mit.edu	37	chr11	65486586	65486586	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgggccatgctcaagcggctCctgcggatcgactccaagtg	7	7	13	14	4	1	0	1	0	0	0	4	2	3	1	3	3	3	2	3	3	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:65486586C>G	ENST00000341318.4	+	13	1809	c.1575C>G	c.(1573-1575)ctC>ctG	p.L525L	KAT5_ENST00000530446.1_Silent_p.L473L|KAT5_ENST00000534650.1_Silent_p.L281L|KAT5_ENST00000377046.3_Silent_p.L492L|KAT5_ENST00000352980.4_Silent_p.L440L|RNASEH2C_ENST00000308418.4_3'UTR	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	492					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCAAGCGGCTCCTGCGGATCG	0.607													16	34					0	0	0	0	G	65486586	C	G	65486586	2	3	429	1	0	0	0	0	0	0	0	1	8036	842	30	2		2	KAT5	11	65486586	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	166742	65486586	69519930	458	84725											
CORO1B	57175	broad.mit.edu	37	chr11	67209950	67209950	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccactggcctccacaatCaccgccaggaacttggggtt	8	8	9	16	1	1	0	1	0	0	0	3	1	3	1	6	4	1	1	6	4	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67209950C>A	ENST00000393893.1	-	3	253	c.150G>T	c.(148-150)gtG>gtT	p.V50V	CORO1B_ENST00000453768.2_Silent_p.V50V|CORO1B_ENST00000545016.1_Silent_p.V50V|CORO1B_ENST00000341356.5_Silent_p.V50V	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	50					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTCCACAATCACCGCCAGGA	0.627													17	36					9.16793e-09	9.43087e-09	1	0	A	67209950	C	A	67209950	2	1	429	1	0	0	0	0	0	0	0	1	3784	813	29	2		2	CORO1B	11	67209950	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1723364	67209950	67796566	459	84726											
PITPNM1	9600	broad.mit.edu	37	chr11	67266171	67266171	+	Missense_Mutation	SNP	G	G	T																															tggatgcgggtgacggcctcGaaggcggagctcagcgtctg																								rs115377785	byFrequency	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67266171G>T	ENST00000356404.3	-	10	1605	c.1380C>A	c.(1378-1380)ttC>ttA	p.F460L	PITPNM1_ENST00000534749.1_Missense_Mutation_p.F460L|PITPNM1_ENST00000436757.2_Missense_Mutation_p.F460L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	460					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGACGGCCTCGAAGGCGGAGC	0.657													47	56					8.04919e-23	8.43323e-23	1	0	T	67266171	G	T	67266171	3	4	429	1	0	0	0	0	1	0	0	0	12022	1049	37	3	2414	3	PITPNM1	11	67266171	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	56221	67266171	67740345	460	84727	1064	2									
PITPNM1	9600	broad.mit.edu	37	chr11	67266178	67266178	+	Missense_Mutation	SNP	G	G	A																															gggtgacggcctcgaaggcgGagctcagcgtctgcacatcc																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67266178G>A	ENST00000356404.3	-	10	1598	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	PITPNM1_ENST00000534749.1_Missense_Mutation_p.S458F|PITPNM1_ENST00000436757.2_Missense_Mutation_p.S458F	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	458					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTCGAAGGCGGAGCTCAGCGT	0.667													47	53					0	0	0	0	A	67266178	G	A	67266178	3	1	429	1	0	0	0	0	1	0	0	0	12022	1174	41	2	2421	2	PITPNM1	11	67266178	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7	67266178	67740338	461	84728	1064	2									
NUDT8	254552	broad.mit.edu	37	chr11	67395432	67395432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgtcaaagacctttattCagtcctggagtggagctggc	9	11	12	9	0	2	1	2	0	0	1	3	3	3	3	2	3	2	2	2	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67395432C>T	ENST00000376693.2	-	4	705	c.696G>A	c.(694-696)ctG>ctA	p.L232L	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	232						mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GACCTTTATTCAGTCCTGGAG	0.642													13	34					0	0	0	0	T	67395432	C	T	67395432	2	4	429	1	0	0	0	0	0	0	0	1	10816	841	29	2		2	NUDT8	11	67395432	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	129254	67395432	67611084	462	84729											
TCIRG1	10312	broad.mit.edu	37	chr11	67808853	67808853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcctcgtggagttcagaGacgtgagttgggtgggcagg	6	9	20	6	2	1	2	1	1	0	1	2	4	1	3	1	5	0	3	1	5	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67808853G>C	ENST00000265686.3	+	2	223	c.115G>C	c.(115-117)Gac>Cac	p.D39H		NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	39					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGAGTTCAGAGACGTGAGTTG	0.692													24	62					0	0	0	0	C	67808853	G	C	67808853	3	2	429	1	0	0	0	0	1	0	0	0	15797	942	33	2	117	2	TCIRG1	11	67808853	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	413421	67808853	67197663	463	84730											
C2CD3	26005	broad.mit.edu	37	chr11	73795939	73795939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttaccagatctcttgatCagcagctcttttgttggaac	8	15	7	11	0	3	2	1	1	2	1	5	3	4	3	2	1	4	3	2	1	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:73795939C>T	ENST00000334126.7	-	22	4213	c.3987G>A	c.(3985-3987)ctG>ctA	p.L1329L	C2CD3_ENST00000313663.7_Silent_p.L1329L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1329						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATCTCTTGATCAGCAGCTCTT	0.388													13	11					0	0	0	0	T	73795939	C	T	73795939	2	4	429	1	0	0	0	0	0	0	0	1	2174	813	29	2		2	C2CD3	11	73795939	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5987086	73795939	61210577	464	84731											
PGR	5241	broad.mit.edu	37	chr11	100998594	100998594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcaccggccacaaggtagGaacgcggggagcgcgcggag	9	2	19	11	6	0	0	0	0	0	0	0	3	0	3	2	7	2	2	2	7	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:100998594G>A	ENST00000325455.5	-	1	2661	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.S403F	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	403	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CACAAGGTAGGAACGCGGGGA	0.687													10	5					0	0	0	0	A	100998594	G	A	100998594	3	1	429	1	0	0	0	0	1	0	0	0	11877	1174	41	2	1625	2	PGR	11	100998594	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	27202655	100998594	34007922	465	84732											
DYNC2H1	79659	broad.mit.edu	37	chr11	103060496	103060496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattctatttggggttcttCatcaaaaatttatcttttag	10	20	5	6	0	6	0	3	0	3	0	6	0	6	0	0	2	0	1	0	2	5	9			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:103060496C>T	ENST00000375735.2	+	45	7532	c.7388C>T	c.(7387-7389)tCa>tTa	p.S2463L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S2463L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2463	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGGGTTCTTCATCAAAAATT	0.318													31	35					0	0	0	0	T	103060496	C	T	103060496	3	4	429	1	0	0	0	0	1	0	0	0	4882	838	29	2	7566	2	DYNC2H1	11	103060496	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2061902	103060496	31946020	466	84733											
ARHGEF12	23365	broad.mit.edu	37	chr11	120312464	120312464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattgaattactaaaatctCgcccggctcatttggctgtt	9	14	8	10	2	2	1	1	1	1	0	3	1	2	1	1	2	1	4	1	2	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:120312464C>T	ENST00000397843.2	+	14	1307	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R362C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R278C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	381	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACTAAAATCTCGCCCGGCTCA	0.373			T	MLL	AML								42	39					0	0	0	0	T	120312464	C	T	120312464	3	4	429	1	0	0	0	0	1	0	0	0	899	884	31	1	1195	1	ARHGEF12	11	120312464	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	17251968	120312464	14694052	467	84734											
ARHGAP32	9743	broad.mit.edu	37	chr11	128933836	128933836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcccgagcagtgtacctCttgataacatgggcagcacc	9	7	13	12	1	1	1	0	1	1	0	1	2	1	1	3	3	4	4	3	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:128933836C>G	ENST00000310343.9	-	8	803	c.804G>C	c.(802-804)aaG>aaC	p.K268N	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.K194N	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	268	SH3.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGTGTACCTCTTGATAACAT	0.428													44	46					0	0	0	0	G	128933836	C	G	128933836	3	3	429	1	0	0	0	0	1	0	0	0	883	912	32	2	5519	2	ARHGAP32	11	128933836	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8621372	128933836	6072680	468	84735											
WNK1	65125	broad.mit.edu	37	chr12	993365	993365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtcctgtgccagaaagccGattacgagaatcaaaagttt	14	9	10	8	2	1	2	1	0	0	2	2	5	2	2	3	0	3	1	3	0	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:993365G>A	ENST00000537687.1	+	18	5223	c.4580G>A	c.(4579-4581)cGa>cAa	p.R1527Q	WNK1_ENST00000535572.1_Missense_Mutation_p.R1020Q|WNK1_ENST00000530271.2_Missense_Mutation_p.R1765Q|WNK1_ENST00000315939.6_Missense_Mutation_p.R1267Q|WNK1_ENST00000340908.4_Missense_Mutation_p.R860Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1267					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGAAAGCCGATTACGAGAA	0.408													11	136					0	0	0	0	A	993365	G	A	993365	3	1	429	1	0	0	0	0	1	0	0	0	17473	1058	37	1	5372	1	WNK1	12	993365	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		993365	132858530	469	84736											
CACNA1C	775	broad.mit.edu	37	chr12	2786306	2786306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgccacgttcctgatccaGgagtacttccggaagttcaa	10	10	9	12	3	1	1	1	1	0	0	4	3	4	3	4	2	2	3	4	2	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:2786306G>A	ENST00000399655.1	+	40	5140	c.4875G>A	c.(4873-4875)caG>caA	p.Q1625Q	CACNA1C_ENST00000399634.1_Silent_p.Q1625Q|CACNA1C_ENST00000344100.3_Silent_p.Q1666Q|CACNA1C_ENST00000399591.1_Silent_p.Q1633Q|CACNA1C_ENST00000399606.1_Silent_p.Q1645Q|CACNA1C_ENST00000399597.1_Silent_p.Q1625Q|CACNA1C_ENST00000347598.4_Silent_p.Q1673Q|CACNA1C_ENST00000399617.1_Silent_p.Q1625Q|CACNA1C_ENST00000399644.1_Silent_p.Q1625Q|CACNA1C_ENST00000399601.1_Silent_p.Q1625Q|CACNA1C_ENST00000399629.1_Silent_p.Q1642Q|CACNA1C_ENST00000402845.3_Silent_p.Q1644Q|CACNA1C_ENST00000399595.1_Silent_p.Q1633Q|CACNA1C_ENST00000399638.1_Silent_p.Q1653Q|CACNA1C_ENST00000399637.1_Silent_p.Q1644Q|CACNA1C_ENST00000399649.1_Silent_p.Q1631Q|CACNA1C_ENST00000327702.7_Silent_p.Q1625Q|CACNA1C_ENST00000335762.5_Silent_p.Q1650Q|CACNA1C_ENST00000399603.1_Silent_p.Q1625Q|CACNA1C_ENST00000399641.1_Silent_p.Q1625Q|CACNA1C_ENST00000406454.3_Silent_p.Q1625Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.Q1644Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1673					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCTGATCCAGGAGTACTTCC	0.597													6	24					0	0	0	0	A	2786306	G	A	2786306	2	1	429	1	0	0	0	0	0	0	0	1	2565	991	35	4		4	CACNA1C	12	2786306	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1792941	2786306	131065589	470	84737											
CACNA1C	775	broad.mit.edu	37	chr12	2797906	2797906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccaggctggggccccaggGaggcagttccacggcagtgc	7	4	17	13	1	0	0	0	0	0	0	1	1	1	1	4	6	2	4	4	6	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:2797906G>A	ENST00000399655.1	+	46	6343	c.6078G>A	c.(6076-6078)ggG>ggA	p.G2026G	CACNA1C_ENST00000399634.1_Silent_p.G2097G|CACNA1C_ENST00000344100.3_Silent_p.G2067G|CACNA1C_ENST00000399591.1_Silent_p.G2034G|CACNA1C_ENST00000399606.1_Silent_p.G2046G|CACNA1C_ENST00000399597.1_Silent_p.G2026G|CACNA1C_ENST00000347598.4_Silent_p.G2074G|CACNA1C_ENST00000399617.1_Silent_p.G2061G|CACNA1C_ENST00000399644.1_Silent_p.G2026G|CACNA1C_ENST00000399601.1_Silent_p.G2026G|CACNA1C_ENST00000399629.1_Silent_p.G2043G|CACNA1C_ENST00000402845.3_Silent_p.G2045G|CACNA1C_ENST00000399595.1_Silent_p.G2034G|CACNA1C_ENST00000399638.1_Silent_p.G2054G|CACNA1C_ENST00000399637.1_Silent_p.G2045G|CACNA1C_ENST00000399649.1_Silent_p.G2032G|CACNA1C_ENST00000327702.7_Silent_p.G2061G|CACNA1C_ENST00000335762.5_Silent_p.G2051G|CACNA1C_ENST00000399603.1_Silent_p.G2026G|CACNA1C_ENST00000399641.1_Silent_p.G2026G|CACNA1C_ENST00000406454.3_Silent_p.G2097G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.G2045G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2109					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCCCAGGGAGGCAGTTCC	0.721													7	12					0	0	0	0	A	2797906	G	A	2797906	2	1	429	1	0	0	0	0	0	0	0	1	2565	1161	41	2		2	CACNA1C	12	2797906	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11600	2797906	131053989	471	84738											
SCNN1A	6337	broad.mit.edu	37	chr12	6457040	6457040	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaacctctccttccctctCagggcccccccagaggacag	9	6	8	18	0	2	2	1	0	2	2	5	3	3	3	6	2	1	0	6	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:6457040C>G	ENST00000358945.3	-	13	2515	c.2075G>C	c.(2074-2076)tGa>tCa	p.*692S	SCNN1A_ENST00000540037.1_Nonstop_Mutation_p.*370S|SCNN1A_ENST00000360168.3_Nonstop_Mutation_p.*729S|SCNN1A_ENST00000228916.2_Nonstop_Mutation_p.*670S|SCNN1A_ENST00000543768.1_Nonstop_Mutation_p.*693S|SCNN1A_ENST00000396966.2_3'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	0					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTTCCCTCTCAGGGCCCCCC	0.652													3	7					0	0	0	0	G	6457040	C	G	6457040	4	3	429	1	0	0	0	0	0	0	0	0	14014	837	29	2	4	2	SCNN1A	12	6457040	Nonstop_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3659134	6457040	127394855	472	84739											
LRRC23	10233	broad.mit.edu	37	chr12	7022144	7022144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgagccccagcgtgacctgGaacccgaacagtcattgatc	10	7	10	14	2	1	3	1	3	0	0	2	5	1	4	4	1	4	0	4	1	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:7022144G>A	ENST00000007969.8	+	7	1229	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000443597.2_Missense_Mutation_p.E337K|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000323702.5_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	337										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GCGTGACCTGGAACCCGAACA	0.557													56	194					0	0	0	0	A	7022144	G	A	7022144	3	1	429	1	0	0	0	0	1	0	0	0	9042	1175	41	2	1031	2	LRRC23	12	7022144	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	565104	7022144	126829751	473	84740											
C1S	716	broad.mit.edu	37	chr12	7177493	7177493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacattgcactggtgcggctGaaagacccagtgaaaatggg	12	7	14	8	1	0	3	0	2	0	1	0	4	0	3	1	3	2	2	1	3	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:7177493G>A	ENST00000406697.1	+	15	2233	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	C1S_ENST00000402681.3_Silent_p.L368L|C1S_ENST00000360817.5_Silent_p.L535L|C1S_ENST00000328916.3_Silent_p.L535L|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	535	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGGTGCGGCTGAAAGACCCAG	0.527													6	19					0	0	0	0	A	7177493	G	A	7177493	2	1	429	1	0	0	0	0	0	0	0	1	1993	1277	45	2		2	C1S	12	7177493	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	155349	7177493	126674402	474	84741											
ACSM4	341392	broad.mit.edu	37	chr12	7469743	7469743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttgcagattcgcctctGaagagcacagctgtgtggaa	10	12	11	8	1	1	3	0	1	1	2	2	4	1	4	1	1	3	3	1	1	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:7469743G>A	ENST00000399422.4	+	4	679	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	211					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTCGCCTCTGAAGAGCACAG	0.483													9	25					0	0	0	0	A	7469743	G	A	7469743	3	1	429	1	0	0	0	0	1	0	0	0	186	1291	45	2	645	2	ACSM4	12	7469743	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	292250	7469743	126382152	475	84742											
CD163L1	283316	broad.mit.edu	37	chr12	7525937	7525937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacatgtgatccaggtctCttctgctgggctggagattc	6	14	11	10	0	3	2	1	1	2	1	6	3	4	2	1	3	1	2	1	3	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:7525937C>G	ENST00000313599.3	-	14	3766	c.3709G>C	c.(3709-3711)Gag>Cag	p.E1237Q	CD163L1_ENST00000396630.1_Missense_Mutation_p.E1237Q|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1247Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1237	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E1237Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATCCAGGTCTCTTCTGCTGGG	0.458													31	39					0	0	0	0	G	7525937	C	G	7525937	3	3	429	1	0	0	0	0	1	0	0	0	2997	922	32	2	676	2	CD163L1	12	7525937	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	56194	7525937	126325958	476	84743											
FAM90A1	55138	broad.mit.edu	37	chr12	8375290	8375290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctaagacggagcccctgtCagacatttcggtagctgagc	10	8	12	11	2	1	3	1	1	0	2	2	4	1	4	2	2	4	3	2	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:8375290C>G	ENST00000538603.1	-	7	1081	c.523G>C	c.(523-525)Gac>Cac	p.D175H	FAM90A1_ENST00000307435.6_Missense_Mutation_p.D175H	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	175							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGCCCCTGTCAGACATTTCG	0.572													6	66					0	0	0	0	G	8375290	C	G	8375290	3	3	429	1	0	0	0	0	1	0	0	0	5695	826	29	2	875	2	FAM90A1	12	8375290	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	849353	8375290	125476605	477	84744											
PZP	5858	broad.mit.edu	37	chr12	9304265	9304265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcacagagctagatctttCaagctggagagaattagaaa	15	9	10	7	0	3	4	2	0	1	4	3	6	3	5	0	1	2	3	0	1	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:9304265C>G	ENST00000261336.2	-	33	4244	c.4216G>C	c.(4216-4218)Gaa>Caa	p.E1406Q	PZP_ENST00000381997.2_Missense_Mutation_p.E1192Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTAGATCTTTCAAGCTGGAGA	0.428													5	26					0	0	0	0	G	9304265	C	G	9304265	3	3	429	1	0	0	0	0	1	0	0	0	12951	835	29	2	248	2	PZP	12	9304265	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	928975	9304265	124547630	478	84745											
TAS2R14	50840	broad.mit.edu	37	chr12	11090897	11090897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgacctgagggctccccatCtttgaacatgtacctcagcc	8	10	9	14	0	2	3	1	3	1	0	3	3	3	3	5	1	3	2	5	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:11090897C>G	ENST00000537503.1	-	1	965	c.910G>C	c.(910-912)Gat>Cat	p.D304H	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	304					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	p.D163N(1)|p.D304N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						GGCTCCCCATCTTTGAACATG	0.373													20	45					0	0	0	0	G	11090897	C	G	11090897	3	3	429	1	0	0	0	0	1	0	0	0	15659	913	32	2	46	2	TAS2R14	12	11090897	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1786632	11090897	122760998	479	84746											
GPRC5A	9052	broad.mit.edu	37	chr12	13061987	13061987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcccgagttttggctgctCacaaagcaacgaaaccccat	12	8	8	13	2	1	0	1	0	0	0	2	2	2	0	3	1	4	4	3	1	3	2	rs143081065	by1000genomes	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:13061987C>T	ENST00000014914.5	+	2	1694	c.804C>T	c.(802-804)ctC>ctT	p.L268L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	268						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTTGGCTGCTCACAAAGCAAC	0.512													22	35					0	0	0	0	T	13061987	C	T	13061987	2	4	429	1	0	0	0	0	0	0	0	1	6774	813	29	2		2	GPRC5A	12	13061987	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1971090	13061987	120789908	480	84747											
GUCY2C	2984	broad.mit.edu	37	chr12	14773978	14773978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgctcaactccataccaGagtgaactccaatgcgaatc	14	8	7	12	1	1	3	1	1	0	2	4	4	3	3	3	0	5	1	3	0	5	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:14773978G>C	ENST00000261170.3	-	23	2910	c.2774C>G	c.(2773-2775)tCt>tGt	p.S925C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	925	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTCCATACCAGAGTGAACTCC	0.468													8	26					0	0	0	0	C	14773978	G	C	14773978	3	2	429	1	0	0	0	0	1	0	0	0	6946	942	33	2	467	2	GUCY2C	12	14773978	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1711991	14773978	119077917	481	84748											
ABCC9	10060	broad.mit.edu	37	chr12	21998612	21998612	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatagtctatagctacaatGaccgaatgcttcaaaagctt	15	11	6	9	1	2	1	1	1	1	0	2	2	2	1	1	0	4	3	1	0	9	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:21998612G>A	ENST00000261200.4	-	24	3020	c.3021C>T	c.(3019-3021)gtC>gtT	p.V1007V	ABCC9_ENST00000345162.2_Silent_p.V971V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.V1007V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1007	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGCTACAATGACCGAATGCT	0.428													15	32					0	0	0	0	A	21998612	G	A	21998612	2	1	429	1	0	0	0	0	0	0	0	1	59	1277	45	2		2	ABCC9	12	21998612	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7224634	21998612	111853283	482	84749											
PPFIBP1	8496	broad.mit.edu	37	chr12	27824475	27824475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccagagacttcatttgaaGaaaagtatgtcatttattaa	16	13	7	5	0	2	3	2	1	0	2	2	4	2	3	1	0	1	1	1	0	6	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:27824475G>A	ENST00000318304.8	+	14	1592	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E284K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E420K|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E406K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	437					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTCATTTGAAGAAAAGTATGT	0.333													7	20					0	0	0	0	A	27824475	G	A	27824475	3	1	429	1	0	0	0	0	1	0	0	0	12384	943	33	2	1346	2	PPFIBP1	12	27824475	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5825863	27824475	106027420	483	84750											
DDX11	1663	broad.mit.edu	37	chr12	31253968	31253968	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcttaccaggtcacgtGatccctccagacaacatcct	9	10	7	15	1	2	2	1	1	1	1	5	2	5	2	4	2	2	1	4	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:31253968G>C	ENST00000407793.2	+	20	2207	c.1956G>C	c.(1954-1956)gtG>gtC	p.V652V	DDX11_ENST00000350437.4_Silent_p.V652V|DDX11_ENST00000545668.1_Silent_p.V652V|DDX11_ENST00000228264.6_Silent_p.V626V|DDX11_ENST00000542838.1_Silent_p.V652V|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGGTCACGTGATCCCTCCAG	0.577										Multiple Myeloma(12;0.14)			32	98					0	0	0	0	C	31253968	G	C	31253968	2	2	429	1	0	0	0	0	0	0	0	1	4375	1277	45	2		2	DDX11	12	31253968	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3429493	31253968	102597927	484	84751											
DENND5B	160518	broad.mit.edu	37	chr12	31545220	31545220	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatgaagtcccagatgaaGacattcttgtgaaagatgcg	13	10	10	8	1	1	6	0	3	1	3	2	6	2	6	2	0	1	0	2	0	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:31545220G>C	ENST00000389082.5	-	19	3711	c.3447C>G	c.(3445-3447)gtC>gtG	p.V1149V	DENND5B_ENST00000306833.6_Silent_p.V1184V|DENND5B_ENST00000536562.1_Silent_p.V1184V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1149	RUN 2.			V -> A (in Ref. 1; BAC04583).		integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAGATGAAGACATTCTTGT	0.443													18	23					0	0	0	0	C	31545220	G	C	31545220	2	2	429	1	0	0	0	0	0	0	0	1	4474	929	33	2		2	DENND5B	12	31545220	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	291252	31545220	102306675	485	84752											
IRAK4	51135	broad.mit.edu	37	chr12	44180229	44180229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaagaagaaattgaagatGaagaaaagacaattgaagat	23	8	9	1	0	0	9	0	3	0	6	0	9	0	9	0	0	0	0	0	0	10	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:44180229G>A	ENST00000431837.1	+	10	1152	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	IRAK4_ENST00000551736.1_Missense_Mutation_p.E406K|IRAK4_ENST00000448290.2_Missense_Mutation_p.E406K|IRAK4_ENST00000440781.2_Missense_Mutation_p.E282K	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	406	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AATTGAAGATGAAGAAAAGAC	0.269													14	28					0	0	0	0	A	44180229	G	A	44180229	3	1	429	1	0	0	0	0	1	0	0	0	7878	1291	45	2	1254	2	IRAK4	12	44180229	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	12635009	44180229	89671666	486	84753											
WNT10B	7480	broad.mit.edu	37	chr12	49364240	49364240	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaaggggaactgctcaccGactgcacaacgccaggaaca	14	3	11	13	2	1	0	1	0	0	0	1	4	1	2	2	3	5	2	2	3	4	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:49364240G>A	ENST00000301061.4	-	2	421	c.74_splice	c.e2+1	p.R25_splice	WNT10B_ENST00000407467.1_Splice_Site_p.R25_splice|WNT10B_ENST00000403957.1_Splice_Site_p.R25_splice	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	25					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						ACTGCTCACCGACTGCACAAC	0.687													7	14					0	0	0	0	A	49364240	G	A	49364240	5	1	429	1	0	0	0	0	0	0	1	0	17479	1072	37	1	1112	1	WNT10B	12	49364240	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5184011	49364240	84487655	487	84754											
KCNH3	23416	broad.mit.edu	37	chr12	49949532	49949532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccagccccctgctgtccCctggctgcacctcctcatcc	3	9	6	23	0	1	0	1	0	0	0	5	0	5	0	9	1	3	3	9	1	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:49949532C>G	ENST00000257981.6	+	12	2526	c.2266C>G	c.(2266-2268)Cct>Gct	p.P756A		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	756					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCTGTCCCCTGGCTGCAC	0.667													3	37					0	0	0	0	G	49949532	C	G	49949532	3	3	429	1	0	0	0	0	1	0	0	0	8086	623	22	4	2312	4	KCNH3	12	49949532	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	585292	49949532	83902363	488	84755											
FAM186B	84070	broad.mit.edu	37	chr12	49982392	49982392	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggatgttcaggtgaacgttCcactccagctggagctagag	9	9	14	9	1	1	2	1	1	0	1	3	4	3	4	2	3	3	4	2	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:49982392C>T	ENST00000544141.1	-	6	2708	c.2109G>A	c.(2107-2109)tgG>tgA	p.W703*	FAM186B_ENST00000257894.2_Nonsense_Mutation_p.W793*|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	793						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTGAACGTTCCACTCCAGCT	0.567													4	117					0	0	0	0	T	49982392	C	T	49982392	4	4	429	1	0	0	0	0	0	1	0	0	5554	856	30	2	310	2	FAM186B	12	49982392	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	32860	49982392	83869503	489	84756											
NCKAP5L	57701	broad.mit.edu	37	chr12	50195635	50195635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcagatgcctacctgaGggagcgagcctgtcgtgagc	8	6	16	11	3	0	3	0	2	0	1	1	6	0	4	3	1	6	1	3	1	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:50195635G>A	ENST00000335999.6	-	6	548	c.347C>T	c.(346-348)cCt>cTt	p.P116L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	112	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCTACCTGAGGGAGCGAGCC	0.582													25	45					0	0	0	0	A	50195635	G	A	50195635	3	1	429	1	0	0	0	0	1	0	0	0	10294	1000	35	4	3689	4	NCKAP5L	12	50195635	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	213243	50195635	83656260	490	84757											
BCDIN3D	144233	broad.mit.edu	37	chr12	50232622	50232622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttccgggtcctttgattCatgaagtccagggtgataaa	10	12	10	9	1	1	3	1	3	0	0	4	3	4	3	4	2	0	0	4	2	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:50232622C>T	ENST00000333924.4	-	2	452	c.411G>A	c.(409-411)atG>atA	p.M137I	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	137	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TCCTTTGATTCATGAAGTCCA	0.458											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	68					0	0	0	0	T	50232622	C	T	50232622	3	4	429	1	0	0	0	0	1	0	0	0	1361	826	29	2	471	2	BCDIN3D	12	50232622	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	36987	50232622	83619273	491	84758											
DIP2B	57609	broad.mit.edu	37	chr12	51077027	51077027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatagaggtacctcttaccaGaaaggtaacattgctaaatt	15	12	7	7	0	1	2	0	0	1	2	1	2	1	2	2	2	4	3	2	2	8	8			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:51077027G>A	ENST00000301180.5	+	10	1347	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	438						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCTCTTACCAGAAAGGTAACA	0.433													30	60					0	0	0	0	A	51077027	G	A	51077027	3	1	429	1	0	0	0	0	1	0	0	0	4565	942	33	2	1351	2	DIP2B	12	51077027	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	844405	51077027	82774868	492	84759											
LETMD1	25875	broad.mit.edu	37	chr12	51445895	51445895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattgcagatgttatgggctGatgccaaaaaggctagaaga	14	9	13	5	0	0	4	0	1	0	3	0	5	0	4	1	2	2	4	1	2	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:51445895G>A	ENST00000418425.2	+	3	314	c.295G>A	c.(295-297)Gat>Aat	p.D99N	LETMD1_ENST00000262055.4_Missense_Mutation_p.D99N|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Missense_Mutation_p.D99N|LETMD1_ENST00000550929.1_Missense_Mutation_p.D43N	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	99	LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTTATGGGCTGATGCCAAAAA	0.398													20	39					0	0	0	0	A	51445895	G	A	51445895	3	1	429	1	0	0	0	0	1	0	0	0	8789	1290	45	2	305	2	LETMD1	12	51445895	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	368868	51445895	82406000	493	84760											
ACVRL1	94	broad.mit.edu	37	chr12	52314580	52314580	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgatgcgggagtgctGgtacccaaacccctctgccc	8	8	11	14	1	2	2	1	1	1	1	2	3	2	3	4	2	5	2	4	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:52314580G>A	ENST00000550683.1	+	9	1558	c.1457G>A	c.(1456-1458)tGg>tAg	p.W486*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.W298*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.W472*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	472	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CGGGAGTGCTGGTACCCAAAC	0.552													9	26					0	0	0	0	A	52314580	G	A	52314580	4	1	429	1	0	0	0	0	0	1	0	0	225	1357	47	4	1449	4	ACVRL1	12	52314580	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	868685	52314580	81537315	494	84761											
KRT82	3888	broad.mit.edu	37	chr12	52799720	52799720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcatccctctttaccctCtgcacagtcgggtctatctc	5	15	5	16	1	5	0	1	0	5	0	9	0	6	0	2	1	2	1	2	1	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:52799720C>T	ENST00000257974.2	-	1	419	c.342G>A	c.(340-342)caG>caA	p.Q114Q		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	114	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TCTTTACCCTCTGCACAGTCG	0.577													73	168					0	0	0	0	T	52799720	C	T	52799720	2	4	429	1	0	0	0	0	0	0	0	1	8548	912	32	2		2	KRT82	12	52799720	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	485140	52799720	81052175	495	84762											
ESPL1	9700	broad.mit.edu	37	chr12	53675335	53675335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgaagcatctcgatcaGactactgacacatacctgct	12	9	7	13	1	2	3	1	2	1	1	3	4	2	3	2	0	5	2	2	0	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:53675335G>T	ENST00000257934.4	+	13	2635	c.2544G>T	c.(2542-2544)caG>caT	p.Q848H	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q848H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	848					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATCTCGATCAGACTACTGACA	0.483													35	70					2.1956e-27	2.30935e-27	1	0	T	53675335	G	T	53675335	3	4	429	1	0	0	0	0	1	0	0	0	5291	933	33	2	2590	2	ESPL1	12	53675335	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	875615	53675335	80176560	496	84763											
HOXC10	3226	broad.mit.edu	37	chr12	54379124	54379124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaggagagcgctatagccgGagcgcaggcatgtatatgca	11	6	16	8	3	0	1	0	0	0	1	0	4	0	3	1	4	4	5	1	4	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:54379124G>A	ENST00000303460.4	+	1	155	c.81G>A	c.(79-81)cgG>cgA	p.R27R	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	27					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GCTATAGCCGGAGCGCAGGCA	0.612													61	95					0	0	0	0	A	54379124	G	A	54379124	2	1	429	1	0	0	0	0	0	0	0	1	7359	1161	41	2		2	HOXC10	12	54379124	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	703789	54379124	79472771	497	84764											
GDF11	10220	broad.mit.edu	37	chr12	56142406	56142406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagatggcagccctctctGctgccattttcacttcagcc	7	11	8	15	0	3	1	2	0	1	1	4	2	3	1	3	1	4	2	3	1	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56142406G>A	ENST00000257868.5	+	2	519	c.482G>A	c.(481-483)tGc>tAc	p.C161Y		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	161					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						AGCCCTCTCTGCTGCCATTTT	0.562													62	143					0	0	0	0	A	56142406	G	A	56142406	3	1	429	1	0	0	0	0	1	0	0	0	6363	1319	46	4	488	4	GDF11	12	56142406	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1763282	56142406	77709489	498	84765											
DNAJC14	85406	broad.mit.edu	37	chr12	56221092	56221092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatctgatgctgtggcctCaacccccagtacatggaaag	12	8	9	12	0	2	1	1	1	1	0	2	2	2	2	3	2	4	2	3	2	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56221092C>T	ENST00000357606.3	-	3	1640	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	DNAJC14_ENST00000317287.5_Missense_Mutation_p.E451K|RP11-762I7.5_ENST00000546837.1_Silent_p.*80*|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E451K			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	451	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCTGTGGCCTCAACCCCCAGT	0.512													78	121					0	0	0	0	T	56221092	C	T	56221092	3	4	429	1	0	0	0	0	1	0	0	0	4669	835	29	2	781	2	DNAJC14	12	56221092	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	78686	56221092	77630803	499	84766											
RPS26	6231	broad.mit.edu	37	chr12	56437270	56437270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacacccccaccccgatttaGacctgcggtgagtattttaa	11	10	7	13	2	0	2	0	1	0	1	0	3	0	2	5	1	2	1	5	1	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56437270G>C	ENST00000356464.5	+	3	619	c.305G>C	c.(304-306)aGa>aCa	p.R102T	RPS26_ENST00000552361.1_Missense_Mutation_p.R102T			P62854	RS26_HUMAN	ribosomal protein S26	102					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCCGATTTAGACCTGCGGTG	0.483													13	34					0	0	0	0	C	56437270	G	C	56437270	3	2	429	1	0	0	0	0	1	0	0	0	13722	942	33	2	315	2	RPS26	12	56437270	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	216178	56437270	77414625	500	84767											
SMARCC2	6601	broad.mit.edu	37	chr12	56572247	56572247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggtgggtctgttcagtCacattgtcctcatgcaggtc	6	14	12	9	0	4	0	3	0	1	0	6	0	5	0	1	3	1	2	1	3	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56572247C>T	ENST00000394023.3	-	14	1356	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V	SMARCC2_ENST00000550164.1_Silent_p.V417V|SMARCC2_ENST00000347471.4_Silent_p.V417V|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.V417V	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	417					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTGTTCAGTCACATTGTCCT	0.502													4	103					0	0	0	0	T	56572247	C	T	56572247	2	4	429	1	0	0	0	0	0	0	0	1	14864	813	29	2		2	SMARCC2	12	56572247	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	134977	56572247	77279648	501	84768											
BAZ2A	11176	broad.mit.edu	37	chr12	56998928	56998928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccagcaggtcttgcacctCacccaagctgtcaccttgac	9	8	8	16	0	3	1	2	1	1	0	3	2	3	1	4	1	3	3	4	1	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56998928C>T	ENST00000179765.5	-	15	2786	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	BAZ2A_ENST00000551812.1_Missense_Mutation_p.E895K|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E893K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E865K			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	895	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTTGCACCTCACCCAAGCTG	0.572													22	31					0	0	0	0	T	56998928	C	T	56998928	3	4	429	1	0	0	0	0	1	0	0	0	1335	835	29	2	3098	2	BAZ2A	12	56998928	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	426681	56998928	76852967	502	84769											
CTDSP2	10106	broad.mit.edu	37	chr12	58220809	58220809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatgcacaagggtttcatcGaggtcaatgaccacacagat	13	9	9	10	1	2	2	2	1	0	1	3	3	2	2	1	2	1	2	1	2	3	2	rs78691025		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:58220809G>A	ENST00000398073.2	-	4	627	c.324C>T	c.(322-324)ctC>ctT	p.L108L	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	108	FCP1 homology.				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GGGTTTCATCGAGGTCAATGA	0.488													26	45					0	0	0	0	A	58220809	G	A	58220809	2	1	429	1	0	0	0	0	0	0	0	1	4036	1045	37	1		1	CTDSP2	12	58220809	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1221881	58220809	75631086	503	84770											
USP15	9958	broad.mit.edu	37	chr12	62783731	62783731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtaccacgaaacaatactGaagacaaactttataatctc	17	10	4	10	1	1	2	0	1	1	1	2	3	1	2	1	0	4	1	1	0	8	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:62783731G>C	ENST00000280377.5	+	14	1865	c.1807G>C	c.(1807-1809)Gaa>Caa	p.E603Q	USP15_ENST00000393654.3_Missense_Mutation_p.E578Q|USP15_ENST00000353364.3_Missense_Mutation_p.E574Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	603					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAACAATACTGAAGACAAACT	0.353													10	37					0	0	0	0	C	62783731	G	C	62783731	3	2	429	1	0	0	0	0	1	0	0	0	17142	1291	45	2	1770	2	USP15	12	62783731	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4562922	62783731	71068164	504	84771											
E2F7	144455	broad.mit.edu	37	chr12	77444488	77444488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgcttggcctttgcttttCaaattcgtccacagcactgt	6	16	7	12	1	2	0	1	0	1	0	4	0	3	0	2	1	3	3	2	1	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:77444488C>G	ENST00000322886.7	-	4	641	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	E2F7_ENST00000416496.2_Missense_Mutation_p.E136Q	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	136					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTTTGCTTTTCAAATTCGTCC	0.453													14	49					0	0	0	0	G	77444488	C	G	77444488	3	3	429	1	0	0	0	0	1	0	0	0	4908	835	29	2	2369	2	E2F7	12	77444488	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	14660757	77444488	56407407	505	84772											
MYF6	4618	broad.mit.edu	37	chr12	81101775	81101775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagaaaatctgcccccactGaccggcgaaaagccgccacc	13	3	9	16	3	1	2	0	1	1	1	1	4	1	2	6	1	2	0	6	1	4	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:81101775G>A	ENST00000228641.3	+	1	499	c.277G>A	c.(277-279)Gac>Aac	p.D93N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	93					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGCCCCCACTGACCGGCGAAA	0.622													23	56					0	0	0	0	A	81101775	G	A	81101775	3	1	429	1	0	0	0	0	1	0	0	0	10098	1290	45	2	279	2	MYF6	12	81101775	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3657287	81101775	52750120	506	84773											
LRRIQ1	84125	broad.mit.edu	37	chr12	85517849	85517849	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatcatttatttgttcagaGatgtatttaccttggatact	10	19	6	6	0	3	1	3	0	0	1	3	3	3	2	1	1	2	2	1	1	4	9			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:85517849G>C	ENST00000393217.2	+	17	3620	c.3557_splice	c.e17-1	p.D1187_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1187										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTGTTCAGAGATGTATTTAC	0.323													13	21					0	0	0	0	C	85517849	G	C	85517849	5	2	429	1	0	0	0	0	0	0	1	0	9093	956	33	2	3621	2	LRRIQ1	12	85517849	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4416074	85517849	48334046	507	84774											
ATP2B1	490	broad.mit.edu	37	chr12	89997547	89997547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgcatgacccaaaatattCttcatcattgtacgtgagat	14	13	6	8	1	3	2	2	2	1	1	3	3	3	2	1	0	2	2	1	0	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:89997547C>G	ENST00000428670.3	-	17	3246	c.2790G>C	c.(2788-2790)aaG>aaC	p.K930N	ATP2B1_ENST00000359142.3_Missense_Mutation_p.K930N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K930N|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K673N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K930N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	930					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCAAAATATTCTTCATCATTG	0.403													22	48					0	0	0	0	G	89997547	C	G	89997547	3	3	429	1	0	0	0	0	1	0	0	0	1143	912	32	2	1050	2	ATP2B1	12	89997547	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4479698	89997547	43854348	508	84775											
VEZT	55591	broad.mit.edu	37	chr12	95676361	95676361	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagaagtcaagagaactGaataatgttcacacagcagt	18	7	8	8	0	2	3	2	1	0	2	2	4	2	3	0	0	3	2	0	0	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:95676361G>A	ENST00000436874.1	+	8	1374	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	VEZT_ENST00000261219.6_Silent_p.L375L|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	423						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAAGAGAACTGAATAATGTTC	0.408													23	60					0	0	0	0	A	95676361	G	A	95676361	2	1	429	1	0	0	0	0	0	0	0	1	17252	1277	45	2		2	VEZT	12	95676361	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5678814	95676361	38175534	509	84776											
ELK3	2004	broad.mit.edu	37	chr12	96640826	96640826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcagccgggagagccttCtgctgcaggacagcgactgc	9	6	14	12	2	2	2	1	0	1	2	2	5	2	3	2	2	6	2	2	2	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:96640826C>G	ENST00000228741.3	+	3	642	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	106					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GGAGAGCCTTCTGCTGCAGGA	0.597													16	21					0	0	0	0	G	96640826	C	G	96640826	3	3	429	1	0	0	0	0	1	0	0	0	5098	912	32	2	322	2	ELK3	12	96640826	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	964465	96640826	37211069	510	84777											
APAF1	317	broad.mit.edu	37	chr12	99053108	99053108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctccgcattctgatgcttCgcaaacacccaaggtaccga	10	9	8	14	3	2	1	0	1	2	0	4	2	2	1	3	1	3	4	3	1	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:99053108C>T	ENST00000357310.1	+	5	1274	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	APAF1_ENST00000552268.1_Missense_Mutation_p.R233C|APAF1_ENST00000551964.1_Missense_Mutation_p.R233C|APAF1_ENST00000550527.1_Missense_Mutation_p.R222C|APAF1_ENST00000549007.1_Missense_Mutation_p.R233C|APAF1_ENST00000359972.2_Missense_Mutation_p.R222C|APAF1_ENST00000339433.3_Missense_Mutation_p.R233C|APAF1_ENST00000333991.1_Missense_Mutation_p.R233C|APAF1_ENST00000547045.1_Missense_Mutation_p.R233C	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	233	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCTGATGCTTCGCAAACACCC	0.453													36	52					0	0	0	0	T	99053108	C	T	99053108	3	4	429	1	0	0	0	0	1	0	0	0	756	884	31	1	711	1	APAF1	12	99053108	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2412282	99053108	34798787	511	84778											
NUP37	79023	broad.mit.edu	37	chr12	102505992	102505992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttttatactgaatgccttCaacgtctgcttcttcttcct	6	19	5	11	1	4	1	1	1	3	0	5	1	5	1	2	0	4	2	2	0	4	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:102505992C>T	ENST00000552283.1	-	3	314	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.E59K			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	59					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TGAATGCCTTCAACGTCTGCT	0.353													18	39					0	0	0	0	T	102505992	C	T	102505992	3	4	429	1	0	0	0	0	1	0	0	0	10835	835	29	2	837	2	NUP37	12	102505992	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3452884	102505992	31345903	512	84779											
SLC41A2	84102	broad.mit.edu	37	chr12	105322118	105322118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataatccatcttgccaaatgCcgtttgcttttttgtgcctg	7	17	7	10	1	1	0	0	0	1	0	2	0	2	0	4	0	4	2	4	0	2	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:105322118C>T	ENST00000258538.3	-	1	315	c.188G>A	c.(187-189)gGc>gAc	p.G63D		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	63						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTGCCAAATGCCGTTTGCTTT	0.373													14	14					0	0	0	0	T	105322118	C	T	105322118	3	4	429	1	0	0	0	0	1	0	0	0	14718	739	26	4	1573	4	SLC41A2	12	105322118	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2816126	105322118	28529777	513	84780											
TCP11L2	255394	broad.mit.edu	37	chr12	106708139	106708139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtttttctttcagcaaCaagccctccaagggttgtaa	9	16	7	9	0	2	0	1	0	1	0	3	0	3	0	2	1	3	4	2	1	4	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:106708139C>G	ENST00000546625.1	+	3	320	c.161C>G	c.(160-162)aCa>aGa	p.T54R	TCP11L2_ENST00000547153.1_Missense_Mutation_p.T54R|TCP11L2_ENST00000299045.3_Missense_Mutation_p.T54R			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	54	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CTTTCAGCAACAAGCCCTCCA	0.378													22	62					0	0	0	0	G	106708139	C	G	106708139	3	3	429	1	0	0	0	0	1	0	0	0	15809	478	17	4	167	4	TCP11L2	12	106708139	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1386021	106708139	27143756	514	84781											
TCP11L2	255394	broad.mit.edu	37	chr12	106708196	106708196	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctacagcaaggaacttatCaaacttgactcttgctcatg	12	11	8	10	0	3	1	2	1	1	0	3	2	3	2	0	2	5	3	0	2	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:106708196C>G	ENST00000546625.1	+	3	377	c.218C>G	c.(217-219)tCa>tGa	p.S73*	TCP11L2_ENST00000547153.1_Nonsense_Mutation_p.S73*|TCP11L2_ENST00000299045.3_Nonsense_Mutation_p.S73*			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	73										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGGAACTTATCAAACTTGACT	0.398													20	53					0	0	0	0	G	106708196	C	G	106708196	4	3	429	1	0	0	0	0	0	1	0	0	15809	838	29	2	224	2	TCP11L2	12	106708196	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	57	106708196	27143699	515	84782											
UNG	7374	broad.mit.edu	37	chr12	109539779	109539779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgggctctgctttagtgttCaaaggcctgttccgcctccg	5	12	11	13	3	2	0	1	0	1	0	4	0	4	0	4	2	1	4	4	2	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109539779C>G	ENST00000336865.2	+	3	690	c.481C>G	c.(481-483)Caa>Gaa	p.Q161E	UNG_ENST00000242576.2_Missense_Mutation_p.Q170E	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	170					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CTTTAGTGTTCAAAGGCCTGT	0.493								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				14	33					0	0	0	0	G	109539779	C	G	109539779	3	3	429	1	0	0	0	0	1	0	0	0	17095	827	29	2	627	2	UNG	12	109539779	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2831583	109539779	24312116	516	84783											
ACACB	32	broad.mit.edu	37	chr12	109678960	109678960	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgtgctacaggctgaggtCaagatcaacatccgccagac	11	7	11	12	2	2	3	2	1	0	2	3	3	3	3	2	2	3	2	2	2	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109678960C>G	ENST00000338432.7	+	36	5015	c.4896C>G	c.(4894-4896)gtC>gtG	p.V1632V	ACACB_ENST00000377854.5_Silent_p.V1562V|ACACB_ENST00000377848.3_Silent_p.V1632V|ACACB_ENST00000543201.1_Silent_p.V298V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1632					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGCTGAGGTCAAGATCAACA	0.572													51	143					0	0	0	0	G	109678960	C	G	109678960	2	3	429	1	0	0	0	0	0	0	0	1	107	813	29	2		2	ACACB	12	109678960	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	139181	109678960	24172935	517	84784											
ACACB	32	broad.mit.edu	37	chr12	109680251	109680251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggtccagatcatgtttCactccttcggcaacaagcaa	10	12	7	12	1	3	1	2	0	1	1	6	1	5	1	2	2	2	3	2	2	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109680251C>T	ENST00000338432.7	+	37	5151	c.5032C>T	c.(5032-5034)Cac>Tac	p.H1678Y	ACACB_ENST00000377854.5_Missense_Mutation_p.H1608Y|ACACB_ENST00000377848.3_Missense_Mutation_p.H1678Y|ACACB_ENST00000543201.1_Missense_Mutation_p.H344Y			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1678					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.H1678N(1)|p.H344N(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCATGTTTCACTCCTTCGG	0.517													36	71					0	0	0	0	T	109680251	C	T	109680251	3	4	429	1	0	0	0	0	1	0	0	0	107	826	29	2	5174	2	ACACB	12	109680251	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1291	109680251	24171644	518	84785											
ACACB	32	broad.mit.edu	37	chr12	109685464	109685464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaccagaatcagctccctGaactccgtccactgtaaaca	13	8	5	15	1	1	2	1	1	0	1	4	2	4	2	4	0	4	2	4	0	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109685464G>A	ENST00000338432.7	+	40	5744	c.5625G>A	c.(5623-5625)ctG>ctA	p.L1875L	ACACB_ENST00000377854.5_Silent_p.L1805L|ACACB_ENST00000377848.3_Silent_p.L1875L|ACACB_ENST00000543201.1_Silent_p.L541L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1875	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCAGCTCCCTGAACTCCGTCC	0.433													41	78					0	0	0	0	A	109685464	G	A	109685464	2	1	429	1	0	0	0	0	0	0	0	1	107	1277	45	2		2	ACACB	12	109685464	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5213	109685464	24166431	519	84786											
ACACB	32	broad.mit.edu	37	chr12	109685501	109685501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacatcgaggaaggaggaGagtccaggtaaataacttat	17	7	11	6	1	0	1	0	0	0	1	2	5	1	3	1	4	2	1	1	4	6	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109685501G>A	ENST00000338432.7	+	40	5781	c.5662G>A	c.(5662-5664)Gag>Aag	p.E1888K	ACACB_ENST00000377854.5_Missense_Mutation_p.E1818K|ACACB_ENST00000377848.3_Missense_Mutation_p.E1888K|ACACB_ENST00000543201.1_Missense_Mutation_p.E554K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1888	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAAGGAGGAGAGTCCAGGTA	0.443													23	65					0	0	0	0	A	109685501	G	A	109685501	3	1	429	1	0	0	0	0	1	0	0	0	107	943	33	2	5816	2	ACACB	12	109685501	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	37	109685501	24166394	520	84787											
MMAB	326625	broad.mit.edu	37	chr12	109996909	109996909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacgcgagtacctgtttaaGaacttggccacgttcgcatc	9	10	9	13	4	0	1	0	0	0	1	2	2	0	1	3	1	2	4	3	1	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109996909G>C	ENST00000545712.2	-	8	1029	c.636C>G	c.(634-636)ttC>ttG	p.F212L	MMAB_ENST00000540016.1_Missense_Mutation_p.F160L|MMAB_ENST00000266839.5_Missense_Mutation_p.F121L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	212					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGTTTAAGAACTTGGCCA	0.572													11	25					0	0	0	0	C	109996909	G	C	109996909	3	2	429	1	0	0	0	0	1	0	0	0	9709	933	33	2	124	2	MMAB	12	109996909	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	311408	109996909	23854986	521	84788											
IFT81	28981	broad.mit.edu	37	chr12	110574587	110574587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgtattttaaagctatttCatgcagtgcaaagattgcaa	14	15	7	5	0	1	1	1	0	0	1	1	1	1	1	0	0	4	5	0	0	6	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:110574587C>T	ENST00000242591.5	+	8	1209	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	IFT81_ENST00000361948.4_Missense_Mutation_p.H235Y|IFT81_ENST00000552912.1_Missense_Mutation_p.H235Y	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	235					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AAAGCTATTTCATGCAGTGCA	0.358													9	7					0	0	0	0	T	110574587	C	T	110574587	3	4	429	1	0	0	0	0	1	0	0	0	7618	826	29	2	729	2	IFT81	12	110574587	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	577678	110574587	23277308	522	84789											
PPTC7	160760	broad.mit.edu	37	chr12	110983764	110983764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgaagtaatgctgctgctCatctgatcggtgcacgactt	8	13	11	9	2	2	2	1	2	1	0	3	3	2	2	0	1	4	6	0	1	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:110983764C>T	ENST00000354300.3	-	3	811	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	175	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TGCTGCTGCTCATCTGATCGG	0.562													39	63					0	0	0	0	T	110983764	C	T	110983764	3	4	429	1	0	0	0	0	1	0	0	0	12489	835	29	2	407	2	PPTC7	12	110983764	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	409177	110983764	22868131	523	84790											
ATXN2	6311	broad.mit.edu	37	chr12	111956212	111956212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctctatttctttgtccagGaggaatatatttattttccc	8	20	5	8	0	2	0	0	0	2	0	5	2	4	2	2	2	0	0	2	2	5	10			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:111956212G>A	ENST00000377617.3	-	9	1647	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	ATXN2_ENST00000542287.2_Missense_Mutation_p.P231S|ATXN2_ENST00000550104.1_Missense_Mutation_p.P496S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P231S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P207S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	496					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTTTGTCCAGGAGGAATATAT	0.418													13	43					0	0	0	0	A	111956212	G	A	111956212	3	1	429	1	0	0	0	0	1	0	0	0	1215	1174	41	2	2523	2	ATXN2	12	111956212	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	972448	111956212	21895683	524	84791											
TRAFD1	10906	broad.mit.edu	37	chr12	112580000	112580000	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctaagtctgcaaaatGaaggccaagcctccagtgtg	11	8	11	11	0	1	1	0	1	1	0	2	1	2	1	4	2	2	1	4	2	5	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:112580000G>T	ENST00000257604.5	+	6	1368	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E251*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	251					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TCTGCAAAATGAAGGCCAAGC	0.552													18	66					3.32936e-07	3.39563e-07	1	0	T	112580000	G	T	112580000	4	4	429	1	0	0	0	0	0	1	0	0	16542	1291	45	2	769	2	TRAFD1	12	112580000	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	623788	112580000	21271895	525	84792											
CCDC60	160777	broad.mit.edu	37	chr12	119773055	119773055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtccggcccttttatgcctCggagaacctaaggcaggtaa	9	10	11	11	2	0	1	0	0	0	1	2	2	1	1	4	4	2	2	4	4	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:119773055C>G	ENST00000327554.2	+	1	539	c.74C>G	c.(73-75)tCg>tGg	p.S25W	CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.S25W|CCDC60_ENST00000536742.1_Missense_Mutation_p.S25W	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	25								p.S25*(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTTATGCCTCGGAGAACCTA	0.473													21	55					0	0	0	0	G	119773055	C	G	119773055	3	3	429	1	0	0	0	0	1	0	0	0	2858	893	31	3	76	3	CCDC60	12	119773055	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	7193055	119773055	14078840	526	84793											
RPLP0	6175	broad.mit.edu	37	chr12	120636497	120636497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgttcagcagcgtggcttCgctggctcccactttgtctc	4	13	10	14	2	2	0	1	0	1	0	5	0	3	0	1	2	2	5	1	2	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:120636497C>T	ENST00000551150.1	-	5	826	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.E171K|RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000392514.4_Missense_Mutation_p.E171K			P05388	RLA0_HUMAN	ribosomal protein, large, P0	171					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCGTGGCTTCGCTGGCTCCC	0.522													18	46					0	0	0	0	T	120636497	C	T	120636497	3	4	429	1	0	0	0	0	1	0	0	0	13689	893	31	1	454	1	RPLP0	12	120636497	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	863442	120636497	13215398	527	84794											
KDM2B	84678	broad.mit.edu	37	chr12	121868213	121868213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtacctcaggtcaatatGacagatgtttccacagcgtt	11	11	9	10	1	2	2	2	1	0	1	3	2	3	2	2	1	2	4	2	1	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:121868213G>C	ENST00000377069.4	-	22	4088	c.3682C>G	c.(3682-3684)Cat>Gat	p.H1228D	KDM2B_ENST00000536437.1_Silent_p.V556V|KDM2B_ENST00000377071.4_Missense_Mutation_p.H1297D|RNF34_ENST00000392464.2_Missense_Mutation_p.M480I|KDM2B_ENST00000542973.1_Missense_Mutation_p.H665D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1297					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGGTCAATATGACAGATGTTT	0.468													55	135					0	0	0	0	C	121868213	G	C	121868213	3	2	429	1	0	0	0	0	1	0	0	0	8178	1290	45	2	177	2	KDM2B	12	121868213	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1231716	121868213	11983682	528	84795											
TMEM132B	114795	broad.mit.edu	37	chr12	125834094	125834094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catctccaatgcagaggagtCctttttccttaaagaagcca	12	11	7	11	0	1	2	0	0	1	2	4	3	3	3	4	1	2	1	4	1	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:125834094C>T	ENST00000299308.3	+	2	157	c.149C>T	c.(148-150)tCc>tTc	p.S50F	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	50						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGAGGAGTCCTTTTTCCTT	0.537													46	87					0	0	0	0	T	125834094	C	T	125834094	3	4	429	1	0	0	0	0	1	0	0	0	16140	855	30	2	155	2	TMEM132B	12	125834094	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3965881	125834094	8017801	529	84796											
FZD10	11211	broad.mit.edu	37	chr12	130648351	130648351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccggcgccgagagcatCgcctgcgaccgggacagcgg	6	4	16	15	8	0	1	0	0	0	1	2	4	0	2	4	3	3	1	4	3	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:130648351C>A	ENST00000539839.1	+	1	1348	c.766C>A	c.(766-768)Cgc>Agc	p.R256S	FZD10_ENST00000229030.4_Silent_p.I288I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGAGAGCATCGCCTGCGACC	0.642													40	100					2.45108e-15	2.55558e-15	1	0	A	130648351	C	A	130648351	3	1	429	1	0	0	0	0	1	0	0	0	6177	874	31	3	866	3	FZD10	12	130648351	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4814257	130648351	3203544	530	84797											
GPR133	283383	broad.mit.edu	37	chr12	131487356	131487356	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtggacctgggggcgatCagcccctcctcgtgaagcac	8	6	14	13	2	1	2	1	1	0	1	3	4	2	3	4	3	2	1	4	3	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:131487356C>T	ENST00000376682.4	+	1	313	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	GPR133_ENST00000535015.1_Intron|GPR133_ENST00000261654.5_Intron			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)		TGGGGGCGATCAGCCCCTCCT	0.642													8	26					0	0	0	0	T	131487356	C	T	131487356	4	4	429	1	0	0	0	0	0	1	0	0	6692	841	29	2		2	GPR133	12	131487356	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	839005	131487356	2364539	531	84798											
P2RX2	22953	broad.mit.edu	37	chr12	133195570	133195570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcatcctgctctacttCgtgtggtgcgcggggcgcgg	2	11	15	13	5	2	0	1	0	1	0	4	0	3	0	1	4	4	2	1	4	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:133195570C>T	ENST00000389110.3	+	1	205	c.168C>T	c.(166-168)ttC>ttT	p.F56F	P2RX2_ENST00000350048.5_Silent_p.F56F|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Silent_p.F56F|P2RX2_ENST00000343948.4_Silent_p.F56F|P2RX2_ENST00000449132.2_Silent_p.F56F	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	56					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TGCTCTACTTCGTGTGGTgcg	0.751													5	31					0	0	0	0	T	133195570	C	T	133195570	2	4	429	1	0	0	0	0	0	0	0	1	11411	883	31	1		1	P2RX2	12	133195570	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1708214	133195570	656325	532	84799											
SGCG	6445	broad.mit.edu	37	chr13	23853608	23853608	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggttggtacagataaacttCgagtaactggtatgtactaa	13	13	10	5	1	0	1	0	0	0	1	1	2	0	1	0	3	4	5	0	3	7	8			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:23853608C>T	ENST00000218867.3	+	5	620	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	166					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATAAACTTCGAGTAACTGG	0.388													6	21					0	0	0	0	T	23853608	C	T	23853608	4	4	429	1	0	0	0	0	0	1	0	0	14290	876	31	1	510	1	SGCG	13	23853608	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08		23853608	91316270	533	84800											
RNF17	56163	broad.mit.edu	37	chr13	25376518	25376518	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattttactttcttgcacaGaatgaaggctgggaagagga	13	11	12	5	0	1	3	0	1	1	2	1	6	1	5	0	3	2	2	0	3	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:25376518G>C	ENST00000255324.5	+	14	1810		c.e14-1		RNF17_ENST00000255325.5_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTCTTGCACAGAATGAAGGCT	0.353													19	38					0	0	0	0	C	25376518	G	C	25376518	5	2	429	1	0	0	0	0	0	0	1	0	13546	956	33	2	1812	2	RNF17	13	25376518	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1522910	25376518	89793360	534	84801											
RNF17	56163	broad.mit.edu	37	chr13	25376660	25376660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccgaataaaataagcagtGatatgcctgtgtctcttaga	14	11	8	8	1	1	2	0	1	1	1	2	3	1	2	2	0	2	1	2	0	6	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:25376660G>C	ENST00000255324.5	+	14	1952	c.1900G>C	c.(1900-1902)Gat>Cat	p.D634H	RNF17_ENST00000255325.5_Missense_Mutation_p.D635H|RNF17_ENST00000381921.1_Missense_Mutation_p.D634H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	634					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATAAGCAGTGATATGCCTGT	0.318													28	67					0	0	0	0	C	25376660	G	C	25376660	3	2	429	1	0	0	0	0	1	0	0	0	13546	1290	45	2	1954	2	RNF17	13	25376660	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	142	25376660	89793218	535	84802											
ATP8A2	51761	broad.mit.edu	37	chr13	26411340	26411340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcactctgggaatctttGagaggtcttgcactcaggag	8	12	11	10	0	5	1	2	1	3	1	5	4	5	3	1	3	1	1	1	3	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:26411340G>C	ENST00000381655.2	+	29	2936	c.2794G>C	c.(2794-2796)Gag>Cag	p.E932Q	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E867Q|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	892					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGGAATCTTTGAGAGGTCTTG	0.498													31	67					0	0	0	0	C	26411340	G	C	26411340	3	2	429	1	0	0	0	0	1	0	0	0	1197	1291	45	2	2908	2	ATP8A2	13	26411340	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1034680	26411340	88758538	536	84803											
KATNAL1	84056	broad.mit.edu	37	chr13	30782829	30782829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagtgcacggatttcttctgGacttaagccattgatacgcc	10	12	9	10	2	2	1	0	1	2	0	2	3	2	3	2	2	3	1	2	2	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:30782829G>C	ENST00000380615.3	-	11	1488	c.1321C>G	c.(1321-1323)Cca>Gca	p.P441A	KATNAL1_ENST00000380617.3_Missense_Mutation_p.P441A	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	441						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATTTCTTCTGGACTTAAGCCA	0.388													9	25					0	0	0	0	C	30782829	G	C	30782829	3	2	429	1	0	0	0	0	1	0	0	0	8038	1174	41	2	155	2	KATNAL1	13	30782829	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4371489	30782829	84387049	537	84804											
KL	9365	broad.mit.edu	37	chr13	33590999	33590999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgacacggaggcgctgcgcGagctcggggtcactcactac	7	5	15	14	6	2	0	2	0	0	0	3	3	2	1	0	4	3	2	0	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:33590999G>A	ENST00000380099.3	+	1	429	c.421G>A	c.(421-423)Gag>Aag	p.E141K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	141	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCGCTGCGCGAGCTCGGGGT	0.706													10	22					0	0	0	0	A	33590999	G	A	33590999	3	1	429	1	0	0	0	0	1	0	0	0	8383	1059	37	1	423	1	KL	13	33590999	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2808170	33590999	81578879	538	84805											
TSC22D1	8848	broad.mit.edu	37	chr13	45147827	45147827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggaggcacagttaacaagGaactttgggatgcaataacc	14	7	13	7	0	0	0	0	0	0	0	0	3	0	3	1	5	4	3	1	5	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:45147827G>A	ENST00000458659.2	-	1	2874	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	795	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGTTAACAAGGAACTTTGGGA	0.473													37	105					0	0	0	0	A	45147827	G	A	45147827	3	1	429	1	0	0	0	0	1	0	0	0	16702	1174	41	2	978	2	TSC22D1	13	45147827	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11556828	45147827	70022051	539	84806											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281697	49281697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaaggcactgaccacCatcatcatcaccttgatcat	13	8	6	14	0	4	2	4	2	0	0	4	3	4	3	3	2	0	1	3	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:49281697C>T	ENST00000282018.3	+	1	747	c.744C>T	c.(742-744)acC>acT	p.T248T		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	248					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CACTGACCACCATCATCATCA	0.488													31	53					0	0	0	0	T	49281697	C	T	49281697	2	4	429	1	0	0	0	0	0	0	0	1	4234	581	21	4		4	CYSLTR2	13	49281697	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4133870	49281697	65888181	540	84807											
ALG11	440138	broad.mit.edu	37	chr13	52598682	52598682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctcactatggaaagttggGaattgcactaacattgttta	12	14	8	7	0	1	0	1	0	1	0	2	2	1	2	0	2	2	3	0	2	5	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:52598682G>A	ENST00000521508.1	+	3	821	c.816G>A	c.(814-816)ggG>ggA	p.G272G	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GGAAAGTTGGGAATTGCACTA	0.388													24	46					0	0	0	0	A	52598682	G	A	52598682	2	1	429	1	0	0	0	0	0	0	0	1	513	1161	41	2		2	ALG11	13	52598682	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3316985	52598682	62571196	541	84808											
LMO7	4008	broad.mit.edu	37	chr13	76409469	76409469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttctccgaaagccttcaGagttctgtgagtatttggag	9	14	11	7	1	3	2	1	1	2	1	4	5	3	3	2	1	1	2	2	1	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:76409469G>C	ENST00000357063.3	+	19	4743	c.3483G>C	c.(3481-3483)caG>caC	p.Q1161H	LMO7_ENST00000377534.3_Missense_Mutation_p.Q1161H|LMO7_ENST00000465261.2_Missense_Mutation_p.Q876H|LMO7_ENST00000526202.1_Missense_Mutation_p.Q753H|LMO7_ENST00000341547.4_Missense_Mutation_p.Q827H|LMO7_ENST00000321797.8_Missense_Mutation_p.Q876H			Q8WWI1	LMO7_HUMAN	LIM domain 7	1161						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGCCTTCAGAGTTCTGTGA	0.353													13	32					0	0	0	0	C	76409469	G	C	76409469	3	2	429	1	0	0	0	0	1	0	0	0	8910	933	33	2	3557	2	LMO7	13	76409469	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	23810787	76409469	38760409	542	84809											
MYCBP2	23077	broad.mit.edu	37	chr13	77785339	77785339	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggatcaagacacacacCaaatccttgcagatcctctt	14	9	5	13	0	2	2	1	0	1	2	4	3	4	3	3	1	2	1	3	1	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:77785339C>G	ENST00000407578.2	-	23	3645	c.3379G>C	c.(3379-3381)Ggt>Cgt	p.G1127R	MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1089R|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1089R	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1089					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGACACACACCAAATCCTTGC	0.333													13	27					0	0	0	0	G	77785339	C	G	77785339	3	3	429	1	0	0	0	0	1	0	0	0	10088	594	21	4	10901	4	MYCBP2	13	77785339	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1375870	77785339	37384539	543	84810											
GPC5	2262	broad.mit.edu	37	chr13	92101020	92101020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgtgtgttccaggacctGatcttcaggtttgcatatcc	6	16	10	9	0	2	1	1	1	1	0	4	2	4	2	3	2	1	4	3	2	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:92101020G>A	ENST00000377067.3	+	2	541	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	57						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCCAGGACCTGATCTTCAGGT	0.413													19	54					0	0	0	0	A	92101020	G	A	92101020	3	1	429	1	0	0	0	0	1	0	0	0	6650	1290	45	2	175	2	GPC5	13	92101020	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	14315681	92101020	23068858	544	84811											
OXGR1	27199	broad.mit.edu	37	chr13	97639154	97639154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagagcagctaatggtctaGaaacgatgtaagcttcatgg	13	10	11	7	1	3	2	2	0	1	2	3	3	3	2	0	2	4	4	0	2	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:97639154G>C	ENST00000298440.1	-	4	1103	c.860C>G	c.(859-861)tCt>tGt	p.S287C	OXGR1_ENST00000543457.1_Missense_Mutation_p.S287C	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	287						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TAATGGTCTAGAAACGATGTA	0.438													17	58					0	0	0	0	C	97639154	G	C	97639154	3	2	429	1	0	0	0	0	1	0	0	0	11403	942	33	2	157	2	OXGR1	13	97639154	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5538134	97639154	17530724	545	84812											
TM9SF2	9375	broad.mit.edu	37	chr13	100193037	100193037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgcctcatacccacattCagtggtttaggtaagagtac	11	12	8	10	0	2	1	2	0	0	1	2	1	2	1	2	2	3	3	2	2	5	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:100193037C>T	ENST00000376387.4	+	8	1088	c.898C>T	c.(898-900)Cag>Tag	p.Q300*		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	300					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TACCCACATTCAGTGGTTTAG	0.393													20	37					0	0	0	0	T	100193037	C	T	100193037	4	4	429	1	0	0	0	0	0	1	0	0	16072	827	29	2	928	2	TM9SF2	13	100193037	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2553883	100193037	14976841	546	84813											
TPP2	7174	broad.mit.edu	37	chr13	103287982	103287982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagttcattcagtcagaaGagctctagaaaacactgcag	15	8	8	10	0	4	3	3	0	1	3	4	3	4	3	0	0	3	3	0	0	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:103287982G>A	ENST00000376052.3	+	12	1455	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	TPP2_ENST00000376065.4_Missense_Mutation_p.R480K			P29144	TPP2_HUMAN	tripeptidyl peptidase II	480					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAGTCAGAAGAGCTCTAGAA	0.358													14	29					0	0	0	0	A	103287982	G	A	103287982	3	1	429	1	0	0	0	0	1	0	0	0	16507	942	33	2	1485	2	TPP2	13	103287982	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3094945	103287982	11881896	547	84814											
F7	2155	broad.mit.edu	37	chr13	113772867	113772867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagcccgtggtcctcactGaccatgtggtgcccctctgc	5	9	10	17	1	2	1	1	1	1	0	3	1	3	1	6	2	3	0	6	2	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:113772867G>C	ENST00000375581.3	+	9	981	c.946G>C	c.(946-948)Gac>Cac	p.D316H	F7_ENST00000541084.1_Missense_Mutation_p.D247H|F7_ENST00000346342.3_Missense_Mutation_p.D294H	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	316	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGTCCTCACTGACCATGTGGT	0.677													22	43					0	0	0	0	C	113772867	G	C	113772867	3	2	429	1	0	0	0	0	1	0	0	0	5387	1290	45	2	980	2	F7	13	113772867	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10484885	113772867	1397011	548	84815											
CUL4A	8451	broad.mit.edu	37	chr13	113899295	113899295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaagcattttataaaaaaGatttggcaaaaagactcctt	17	13	6	5	0	0	3	0	1	0	2	1	3	1	3	1	1	1	2	1	1	7	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:113899295G>C	ENST00000451881.1	+	13	1315	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	CUL4A_ENST00000375441.3_Missense_Mutation_p.D356H|CUL4A_ENST00000375440.4_Missense_Mutation_p.D456H|CUL4A_ENST00000326335.4_Missense_Mutation_p.D356H	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	456					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TTATAAAAAAGATTTGGCAAA	0.373													19	50					0	0	0	0	C	113899295	G	C	113899295	3	2	429	1	0	0	0	0	1	0	0	0	4089	942	33	2	1416	2	CUL4A	13	113899295	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	126428	113899295	1270583	549	84816											
TEP1	7011	broad.mit.edu	37	chr14	20844028	20844028	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcccagcagaggagactCtggataggccccaaggagag	12	4	14	11	1	1	3	0	0	1	3	2	6	2	4	3	4	1	1	3	4	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:20844028C>T	ENST00000262715.5	-	43	6290		c.e43-1		TEP1_ENST00000545983.1_Splice_Site|TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGAGGAGACTCTGGATAGGCC	0.567													11	30					0	0	0	0	T	20844028	C	T	20844028	5	4	429	1	0	0	0	0	0	0	1	0	15853	927	32	2	1686	2	TEP1	14	20844028	Splice_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08		20844028	86505512	550	84817											
RNASE12	493901	broad.mit.edu	37	chr14	21058670	21058670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattgatttttcgaggcctCtcatggatgaagacatgctc	9	13	9	10	1	1	3	1	2	1	1	4	5	1	4	2	2	1	1	2	2	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:21058670C>T	ENST00000556526.1	-	1	312	c.213G>A	c.(211-213)gaG>gaA	p.E71E	RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA|RNASE11_ENST00000335950.4_5'UTR	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	71						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		TTCGAGGCCTCTCATGGATGA	0.433													22	58					0	0	0	0	T	21058670	C	T	21058670	2	4	429	1	0	0	0	0	0	0	0	1	13487	912	32	2		2	RNASE12	14	21058670	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	214642	21058670	86290870	551	84818											
RPGRIP1	57096	broad.mit.edu	37	chr14	21794056	21794056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaagtgctgtggcctcCggagtcgatggctgggaact	7	9	14	11	2	1	0	1	0	0	0	3	3	2	2	3	4	2	2	3	4	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:21794056C>T	ENST00000206660.6	+	16	2434	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R812W|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R774W|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R171W			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	812	C2.		R -> H (does not affect the interaction with NPHP4).		response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTGTGGCCTCCGGAGTCGATG	0.507													13	38					0	0	0	0	T	21794056	C	T	21794056	3	4	429	1	0	0	0	0	1	0	0	0	13634	643	23	1	2496	1	RPGRIP1	14	21794056	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	735386	21794056	85555484	552	84819											
SALL2	6297	broad.mit.edu	37	chr14	21992852	21992852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcagtggcctcaaggcctCgggctgccccaagacactgt	8	6	13	14	1	1	1	1	0	0	1	2	1	1	1	4	4	1	2	4	4	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:21992852C>T	ENST00000327430.3	-	2	1304	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R200Q|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	337							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCAAGGCCTCGGGCTGCCCC	0.607													9	21					0	0	0	0	T	21992852	C	T	21992852	3	4	429	1	0	0	0	0	1	0	0	0	13896	884	31	1	2017	1	SALL2	14	21992852	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	198796	21992852	85356688	553	84820											
LTB4R2	56413	broad.mit.edu	37	chr14	24780814	24780814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaaggctctggggaggcccGagggggcggccgctctaggg	5	4	21	11	4	2	0	0	0	2	0	2	3	2	1	2	8	0	2	2	8	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:24780814G>A	ENST00000528054.1	+	1	2654	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	LTB4R2_ENST00000543919.1_Missense_Mutation_p.R315Q|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R315Q			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	346					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGAGGCCCGAGGGGGCGGC	0.687													36	53					0	0	0	0	A	24780814	G	A	24780814	3	1	429	1	0	0	0	0	1	0	0	0	9136	1058	37	1	946	1	LTB4R2	14	24780814	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2787962	24780814	82568726	554	84821											
AKAP6	9472	broad.mit.edu	37	chr14	33165305	33165305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagaggagcagcagcagCatctttacaaggttagagct	12	9	12	8	0	2	2	1	0	1	2	2	3	2	3	0	2	6	6	0	2	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:33165305C>T	ENST00000280979.4	+	9	3159	c.2989C>T	c.(2989-2991)Cat>Tat	p.H997Y	AKAP6_ENST00000557272.1_Missense_Mutation_p.H997Y|AKAP6_ENST00000557354.1_Missense_Mutation_p.H997Y	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	997					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCAGCAGCAGCATCTTTACAA	0.478													11	34					0	0	0	0	T	33165305	C	T	33165305	3	4	429	1	0	0	0	0	1	0	0	0	455	710	25	4	3019	4	AKAP6	14	33165305	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8384491	33165305	74184235	555	84822											
SSTR1	6751	broad.mit.edu	37	chr14	38678892	38678892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacatctacatcctaaatCtggccattgctgatgagctg	11	11	7	12	0	2	2	0	2	2	0	3	2	3	2	3	1	4	2	3	1	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:38678892C>T	ENST00000267377.2	+	3	915	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	100					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CATCCTAAATCTGGCCATTGC	0.582													76	156					0	0	0	0	T	38678892	C	T	38678892	2	4	429	1	0	0	0	0	0	0	0	1	15287	912	32	2		2	SSTR1	14	38678892	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5513587	38678892	68670648	556	84823											
PNN	5411	broad.mit.edu	37	chr14	39650039	39650039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactgaggtaagggaaagtGagaagcagcaggatagtcag	17	5	15	4	0	1	2	1	2	0	1	1	5	1	4	0	3	3	3	0	3	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:39650039G>A	ENST00000216832.4	+	9	1193	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	376	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		aagggaaagtgagaagcagca	0.428													13	23					0	0	0	0	A	39650039	G	A	39650039	3	1	429	1	0	0	0	0	1	0	0	0	12232	1291	45	2	1160	2	PNN	14	39650039	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	971147	39650039	67699501	557	84824											
CTAGE5	4253	broad.mit.edu	37	chr14	39796071	39796071	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttttctttaattaggctCacgaggcccagggaatcctc	8	15	8	10	1	2	0	1	0	1	0	4	2	3	1	2	3	0	1	2	3	3	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:39796071C>G	ENST00000553728.1	+	24	3494	c.3281C>G	c.(3280-3282)tCa>tGa	p.S1094*	CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.S530*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.S559*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.S530*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.S564*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.S559*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.S547*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.S479*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.S530*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.S516*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.S484*																							TAATTAGGCTCACGAGGCCCA	0.358													25	38					0	0	0	0	G	39796071	C	G	39796071	4	3	429	1	0	0	0	0	0	1	0	0	4026	838	29	2	1785	2	CTAGE5	14	39796071	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	146032	39796071	67553469	558	84825											
FAM179B	23116	broad.mit.edu	37	chr14	45475280	45475280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatcgccatcttcccgacGaggtctaaatgggacaaagc	12	7	11	11	3	2	1	0	0	2	1	4	5	3	2	2	2	1	0	2	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:45475280G>A	ENST00000361462.2	+	5	2897	c.2714G>A	c.(2713-2715)cGa>cAa	p.R905Q	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.R905Q|FAM179B_ENST00000361577.3_Missense_Mutation_p.R905Q			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	905							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCTTCCCGACGAGGTCTAAAT	0.423													45	73					0	0	0	0	A	45475280	G	A	45475280	3	1	429	1	0	0	0	0	1	0	0	0	5547	1058	37	1	2732	1	FAM179B	14	45475280	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5679209	45475280	61874260	559	84826											
SOS2	6655	broad.mit.edu	37	chr14	50626418	50626418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttgtttttttcttcagcaGacttagcagcaaatattatg	11	17	7	6	0	2	1	1	0	1	1	2	1	2	1	0	0	3	5	0	0	4	8			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:50626418G>A	ENST00000216373.5	-	10	1857	c.1583C>T	c.(1582-1584)tCt>tTt	p.S528F	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.S495F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	528	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTCTTCAGCAGACTTAGCAGC	0.328													26	73					0	0	0	0	A	50626418	G	A	50626418	3	1	429	1	0	0	0	0	1	0	0	0	15025	942	33	2	2471	2	SOS2	14	50626418	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	5151138	50626418	56723122	560	84827											
PYGL	5836	broad.mit.edu	37	chr14	51381452	51381452	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgcaagtcctgggttgcaGagtaggagccagcgccttgg	7	9	15	10	1	1	1	0	0	1	1	2	2	2	2	3	3	4	4	3	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:51381452G>C	ENST00000216392.7	-	12	1817	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	PYGL_ENST00000532462.1_Silent_p.L495L|PYGL_ENST00000544180.2_Silent_p.L461L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	495					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CTGGGTTGCAGAGTAGGAGCC	0.493													23	41					0	0	0	0	C	51381452	G	C	51381452	2	2	429	1	0	0	0	0	0	0	0	1	12943	929	33	2		2	PYGL	14	51381452	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	755034	51381452	55968088	561	84828											
C14orf39	317761	broad.mit.edu	37	chr14	60923756	60923756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaaattctcagctctctCttctacttcatcactatcat	10	16	3	12	0	7	0	4	0	4	0	9	1	7	1	0	1	2	1	0	1	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:60923756C>T	ENST00000321731.3	-	15	1396	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	413										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCAGCTCTCTCTTCTACTTCA	0.353													45	75					0	0	0	0	T	60923756	C	T	60923756	3	4	429	1	0	0	0	0	1	0	0	0	1784	922	32	2	542	2	C14orf39	14	60923756	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	9542304	60923756	46425784	562	84829											
ZBTB1	22890	broad.mit.edu	37	chr14	64989937	64989937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcatggaagaaaatgaaaGagatcacagacgaaagcatt	20	6	9	6	1	2	4	2	1	0	3	2	7	2	5	0	1	1	1	0	1	5	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:64989937G>C	ENST00000358738.3	+	2	2106	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	ZBTB1_ENST00000394712.2_Missense_Mutation_p.R572T|ZBTB1_ENST00000554015.1_Missense_Mutation_p.R572T|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GAAAATGAAAGAGATCACAGA	0.368													34	90					0	0	0	0	C	64989937	G	C	64989937	3	2	429	1	0	0	0	0	1	0	0	0	17617	942	33	2	1717	2	ZBTB1	14	64989937	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4066181	64989937	42359603	563	84830											
PCNX	22990	broad.mit.edu	37	chr14	71575426	71575426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctatagcagccggcattCatccctccggatgtccacca	8	9	8	16	2	1	0	1	0	0	0	4	1	4	1	5	2	3	3	5	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:71575426C>T	ENST00000304743.2	+	34	6853	c.6407C>T	c.(6406-6408)tCa>tTa	p.S2136L	PCNX_ENST00000439984.3_Missense_Mutation_p.S2025L|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.S2064L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2136	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGCCGGCATTCATCCCTCCGG	0.572													29	41					0	0	0	0	T	71575426	C	T	71575426	3	4	429	1	0	0	0	0	1	0	0	0	11662	838	29	2	6541	2	PCNX	14	71575426	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6585489	71575426	35774114	564	84831											
ACOT2	10965	broad.mit.edu	37	chr14	74036030	74036030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcatctcctgctgtccttcGagcgtcccggctgtaccaat	5	12	8	16	3	2	0	1	0	1	0	6	1	4	0	4	1	3	3	4	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:74036030G>C	ENST00000238651.5	+	1	268	c.86G>C	c.(85-87)cGa>cCa	p.R29P	ACOT2_ENST00000538782.1_5'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	29					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTGTCCTTCGAGCGTCCCGG	0.562													55	126					0	0	0	0	C	74036030	G	C	74036030	3	2	429	1	0	0	0	0	1	0	0	0	152	1058	37	3	88	3	ACOT2	14	74036030	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2460604	74036030	33313510	565	84832											
YLPM1	56252	broad.mit.edu	37	chr14	75230935	75230935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaactactagctccacCaccaccgtccgccccccctg	8	6	4	23	2	0	0	0	0	0	0	3	0	3	0	9	0	3	1	9	0	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:75230935C>T	ENST00000325680.7	+	1	867	c.743C>T	c.(742-744)cCa>cTa	p.P248L	YLPM1_ENST00000238571.3_Missense_Mutation_p.P248L|YLPM1_ENST00000552421.1_Missense_Mutation_p.P248L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTAGCTCCACCACCACCGTCC	0.557													23	56					0	0	0	0	T	75230935	C	T	75230935	3	4	429	1	0	0	0	0	1	0	0	0	17582	594	21	4	745	4	YLPM1	14	75230935	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1194905	75230935	32118605	566	84833											
GALC	2581	broad.mit.edu	37	chr14	88452837	88452837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacttcatttcttaccaatGagtgtaatattgggattcct	12	16	6	7	0	2	1	1	1	1	0	3	2	3	2	2	1	2	1	2	1	5	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:88452837G>A	ENST00000261304.2	-	4	544	c.438C>T	c.(436-438)ctC>ctT	p.L146L	GALC_ENST00000393569.2_Silent_p.L120L|GALC_ENST00000393568.4_Silent_p.L123L|GALC_ENST00000544807.2_Silent_p.L90L|GALC_ENST00000554916.1_5'UTR	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	146					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.L146L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTTACCAATGAGTGTAATAT	0.373													6	14					0	0	0	0	A	88452837	G	A	88452837	2	1	429	1	0	0	0	0	0	0	0	1	6250	1277	45	2		2	GALC	14	88452837	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	13221902	88452837	18896703	567	84834											
CCDC88C	440193	broad.mit.edu	37	chr14	91738970	91738970	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctcaaccacgagacagtCacacacagccgtactcatac	14	5	7	15	2	3	1	3	0	0	1	3	3	3	1	2	0	5	2	2	0	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:91738970C>G	ENST00000389857.6	-	30	6172	c.6086G>C	c.(6085-6087)tGa>tCa	p.*2029S	CCDC88C_ENST00000331194.7_Nonstop_Mutation_p.*553S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	0					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACGAGACAGTCACACACAGCC	0.612													10	137					0	0	0	0	G	91738970	C	G	91738970	4	3	429	1	0	0	0	0	0	0	0	0	2892	837	29	2	4	2	CCDC88C	14	91738970	Nonstop_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3286133	91738970	15610570	568	84835											
CCDC88C	440193	broad.mit.edu	37	chr14	91739067	91739067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctccctcgactgcagtcctCcagggcccggccgaggtggg	4	6	15	16	3	0	0	0	0	0	0	4	2	3	0	5	4	1	2	5	4	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:91739067C>G	ENST00000389857.6	-	30	6075	c.5989G>C	c.(5989-5991)Gag>Cag	p.E1997Q	CCDC88C_ENST00000331194.7_Missense_Mutation_p.E521Q	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1997					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCAGTCCTCCAGGGCCCGG	0.692													6	78					0	0	0	0	G	91739067	C	G	91739067	3	3	429	1	0	0	0	0	1	0	0	0	2892	864	30	2	101	2	CCDC88C	14	91739067	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	97	91739067	15610473	569	84836											
LGMN	5641	broad.mit.edu	37	chr14	93179217	93179217	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcaatgtagaacaccatCtgtgaggcagacggggcagg	11	7	14	9	1	2	3	1	1	1	2	2	3	2	3	1	4	1	4	1	4	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:93179217C>T	ENST00000393218.2	-	9	881		c.e9-1		LGMN_ENST00000334869.4_Splice_Site|LGMN_ENST00000555699.1_Splice_Site|LGMN_ENST00000557434.1_Splice_Site	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain						hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AGAACACCATCTGTGAGGCAG	0.587													7	9					0	0	0	0	T	93179217	C	T	93179217	5	4	429	1	0	0	0	0	0	0	1	0	8809	927	32	2	786	2	LGMN	14	93179217	Splice_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1440150	93179217	14170323	570	84837											
GOLGA5	9950	broad.mit.edu	37	chr14	93273116	93273116	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattctagccatgaaggtCaagaggaatcttcaaaggaa	16	8	10	7	0	4	3	2	1	2	2	4	5	4	5	1	3	1	0	1	3	6	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:93273116C>T	ENST00000163416.2	+	3	836	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.Q194*	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	194					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CCATGAAGGTCAAGAGGAATC	0.408			T	RET	papillary thyroid								15	37					0	0	0	0	T	93273116	C	T	93273116	4	4	429	1	0	0	0	0	0	1	0	0	6607	827	29	2	586	2	GOLGA5	14	93273116	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	93899	93273116	14076424	571	84838											
FAM181A	90050	broad.mit.edu	37	chr14	94394950	94394950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaggaacccctacagggagGaatgtcttgctaaggagcag	12	7	14	8	0	1	1	0	1	1	0	1	5	1	5	2	4	4	2	2	4	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:94394950G>C	ENST00000267594.5	+	3	812	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	FAM181A_ENST00000557000.2_Missense_Mutation_p.E107Q|FAM181A_ENST00000557719.1_Missense_Mutation_p.E107Q|FAM181A_ENST00000556222.1_Missense_Mutation_p.E107Q	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	169										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTACAGGGAGGAATGTCTTGC	0.642													17	40					0	0	0	0	C	94394950	G	C	94394950	3	2	429	1	0	0	0	0	1	0	0	0	5550	1175	41	2	511	2	FAM181A	14	94394950	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1121834	94394950	12954590	572	84839											
ASB2	51676	broad.mit.edu	37	chr14	94405724	94405724	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgcgcaggcagccgtggcgGatggccacgagcaaggggct	7	4	19	11	4	0	0	0	0	0	0	0	2	0	1	2	6	3	4	2	6	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:94405724G>A	ENST00000555019.1	-	8	1777	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	ASB2_ENST00000556337.1_5'UTR|ASB2_ENST00000315988.4_Silent_p.I401I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	401					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGCCGTGGCGGATGGCCACGA	0.662													19	56					0	0	0	0	A	94405724	G	A	94405724	2	1	429	1	0	0	0	0	0	0	0	1	1027	1164	41	2		2	ASB2	14	94405724	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10774	94405724	12943816	573	84840											
SERPINA10	51156	broad.mit.edu	37	chr14	94756481	94756481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggttgcgggagagggtCtctctgagtcccttaaagag	8	10	14	9	1	2	3	0	1	2	2	5	4	4	3	2	3	1	1	2	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:94756481C>G	ENST00000554723.1	-	2	988	c.570G>C	c.(568-570)gaG>gaC	p.E190D	SERPINA10_ENST00000554173.1_Missense_Mutation_p.E150D|SERPINA10_ENST00000393096.1_Missense_Mutation_p.E150D|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E150D			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	150					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGGAGAGGGTCTCTCTGAGTC	0.542													29	56					0	0	0	0	G	94756481	C	G	94756481	3	3	429	1	0	0	0	0	1	0	0	0	14174	912	32	2	900	2	SERPINA10	14	94756481	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	350757	94756481	12593059	574	84841											
ATG2B	55102	broad.mit.edu	37	chr14	96757999	96757999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaactgagccagaccaatCaaaatcccagctagcgtacc	14	8	6	13	1	1	2	1	1	0	1	2	2	2	2	4	0	5	2	4	0	6	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:96757999C>G	ENST00000359933.4	-	38	6410	c.5517G>C	c.(5515-5517)ttG>ttC	p.L1839F	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1839										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCAGACCAATCAAAATCCCAG	0.333													30	56					0	0	0	0	G	96757999	C	G	96757999	3	3	429	1	0	0	0	0	1	0	0	0	1098	825	29	2	739	2	ATG2B	14	96757999	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2001518	96757999	10591541	575	84842											
DLK1	8788	broad.mit.edu	37	chr14	101200978	101200978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaagaaaacccctctcctCaccgagggccaggccatctg	12	5	8	16	1	3	1	1	0	2	1	4	2	3	1	6	2	2	0	6	2	4	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:101200978C>T	ENST00000341267.4	+	5	1139	c.897C>T	c.(895-897)ctC>ctT	p.L299L	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	299					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.L299L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCCCTCTCCTCACCGAGGGCC	0.622													25	59					0	0	0	0	T	101200978	C	T	101200978	2	4	429	1	0	0	0	0	0	0	0	1	4601	813	29	2		2	DLK1	14	101200978	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4442979	101200978	6148562	576	84843											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505826	102505826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatacgagaacccgaacctGaagggtgtcaccgaccacac	13	5	9	14	3	1	2	1	1	0	1	1	5	1	2	4	1	3	0	4	1	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:102505826G>A	ENST00000360184.4	+	61	11702	c.11538G>A	c.(11536-11538)ctG>ctA	p.L3846L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3846					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCGAACCTGAAGGGTGTCA	0.542													29	51					0	0	0	0	A	102505826	G	A	102505826	2	1	429	1	0	0	0	0	0	0	0	1	4877	1277	45	2		2	DYNC1H1	14	102505826	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1304848	102505826	4843714	577	84844											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551143	102551143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgagctcttcttgatCgatgtacttttccttaatct	6	21	6	8	1	3	2	0	2	3	0	5	3	4	2	1	0	2	3	1	0	2	8			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:102551143C>A	ENST00000334701.7	-	6	1503	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.D286Y|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D107Y	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	286					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCTTCTTGATCGATGTActtt	0.393													22	33					1.50039e-11	1.55532e-11	1	0	A	102551143	C	A	102551143	3	1	429	1	0	0	0	0	1	0	0	0	7453	884	31	3	1370	3	HSP90AA1	14	102551143	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	45317	102551143	4798397	578	84845			2	127		3	3	190	C		1.411149e-05
HSP90AA1	3320	broad.mit.edu	37	chr14	102551177	102551177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaatcttcttcttcttcttCttgtcaccatccttcttttc	4	23	1	13	0	8	0	1	0	7	0	10	0	9	0	2	0	0	0	2	0	1	10			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:102551177C>G	ENST00000334701.7	-	6	1469	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.K274N|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K95N	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	274					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	tcttcttcttcttgtcaccat	0.378													10	28					0	0	0	0	G	102551177	C	G	102551177	3	3	429	1	0	0	0	0	1	0	0	0	7453	912	32	2	1404	2	HSP90AA1	14	102551177	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	34	102551177	4798363	579	84846			2	127		3	3	190	C		1.411149e-05
HSP90AA1	3320	broad.mit.edu	37	chr14	102551332	102551332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttctttatcacgttccttctCcaccttcaaaagaaaacacg	12	13	3	13	2	4	1	2	0	2	1	6	1	5	1	3	0	1	1	3	0	5	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:102551332C>G	ENST00000334701.7	-	6	1314	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E223Q|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E44Q	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	223					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CGTTCCTTCTCCACCTTCAAA	0.413													14	50					0	0	0	0	G	102551332	C	G	102551332	3	3	429	1	0	0	0	0	1	0	0	0	7453	864	30	2	1559	2	HSP90AA1	14	102551332	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	155	102551332	4798208	580	84847			2	127		3	3	190	C		1.411149e-05
CDC42BPB	9578	broad.mit.edu	37	chr14	103406451	103406451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggttgagggtgccttcaGagttcaggggccttatctgg	6	11	17	7	0	3	2	2	1	1	1	3	3	3	3	2	6	1	2	2	6	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:103406451G>A	ENST00000361246.2	-	32	4811	c.4523C>T	c.(4522-4524)tCt>tTt	p.S1508F		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1508	CNH.				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			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)		GGTGCCTTCAGAGTTCAGGGG	0.617													27	42					0	0	0	0	A	103406451	G	A	103406451	3	1	429	1	0	0	0	0	1	0	0	0	3102	942	33	2	636	2	CDC42BPB	14	103406451	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	855119	103406451	3943089	581	84848											
MARK3	4140	broad.mit.edu	37	chr14	103932719	103932719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatcaatgcagggcatgaaGaagatgaactcaaaccattt	16	8	10	7	0	2	4	2	2	0	2	2	5	2	5	1	2	3	2	1	2	5	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:103932719G>C	ENST00000429436.2	+	10	1447	c.937G>C	c.(937-939)Gaa>Caa	p.E313Q	MARK3_ENST00000553942.1_Missense_Mutation_p.E313Q|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.E234Q|MARK3_ENST00000416682.2_Missense_Mutation_p.E336Q|MARK3_ENST00000335102.5_Missense_Mutation_p.E336Q|MARK3_ENST00000216288.7_Missense_Mutation_p.E313Q|MARK3_ENST00000303622.9_Missense_Mutation_p.E313Q	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	313							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGGGCATGAAGAAGATGAACT	0.363													6	18					0	0	0	0	C	103932719	G	C	103932719	3	2	429	1	0	0	0	0	1	0	0	0	9383	943	33	2	975	2	MARK3	14	103932719	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	526268	103932719	3416821	582	84849											
TRMT61A	115708	broad.mit.edu	37	chr14	103999011	103999011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttccaccagcagcgggcaGagaaggcccgggaggagttc	10	4	16	11	2	0	1	0	0	0	1	2	4	1	3	3	4	2	4	3	4	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:103999011G>A	ENST00000389749.4	+	3	531	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	142						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						GCAGCGGGCAGAGAAGGCCCG	0.682													17	39					0	0	0	0	A	103999011	G	A	103999011	3	1	429	1	0	0	0	0	1	0	0	0	16664	943	33	2	430	2	TRMT61A	14	103999011	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	66292	103999011	3350529	583	84850											
PPP1R13B	23368	broad.mit.edu	37	chr14	104205238	104205238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacctcatagatgatcctCtgcaccagatcgaactctcc	10	10	5	16	1	4	3	2	1	2	2	7	4	5	3	4	0	2	1	4	0	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:104205238C>T	ENST00000202556.9	-	13	2997	c.2715G>A	c.(2713-2715)caG>caA	p.Q905Q	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.Q324Q	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	905					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AGATGATCCTCTGCACCAGAT	0.642													56	128					0	0	0	0	T	104205238	C	T	104205238	2	4	429	1	0	0	0	0	0	0	0	1	12433	912	32	2		2	PPP1R13B	14	104205238	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	206227	104205238	3144302	584	84851											
KIF26A	26153	broad.mit.edu	37	chr14	104639754	104639754	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcccgcagcaccagcCgagcgggctgtggcgaggac	6	3	18	14	5	0	0	0	0	0	0	0	3	0	1	3	5	3	3	3	5	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:104639754C>T	ENST00000315264.7	+	8	1732	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	KIF26A_ENST00000423312.2_Nonsense_Mutation_p.R591*			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	591	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGCACCAGCCGAGCGGGCTG	0.672													4	8					0	0	0	0	T	104639754	C	T	104639754	4	4	429	1	0	0	0	0	0	1	0	0	8345	644	23	1	1805	1	KIF26A	14	104639754	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	434516	104639754	2709786	585	84852											
AHNAK2	113146	broad.mit.edu	37	chr14	105409745	105409745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggggctgaacgctgaggtCagtggccttgaggtccccct	6	8	16	11	1	1	3	1	3	0	0	2	3	2	3	3	5	1	2	3	5	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:105409745C>T	ENST00000333244.5	-	7	12162	c.12043G>A	c.(12043-12045)Gac>Aac	p.D4015N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4015						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGCTGAGGTCAGTGGCCTTG	0.657													73	153					0	0	0	0	T	105409745	C	T	105409745	3	4	429	1	0	0	0	0	1	0	0	0	415	826	29	2	5348	2	AHNAK2	14	105409745	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	769991	105409745	1939795	586	84853											
AHNAK2	113146	broad.mit.edu	37	chr14	105410277	105410277	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgcatggaggggagactCacatcggcctccaccttggg	7	7	13	14	1	1	1	1	0	0	1	3	3	2	2	4	5	1	1	4	5	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:105410277C>G	ENST00000333244.5	-	7	11630	c.11511G>C	c.(11509-11511)gtG>gtC	p.V3837V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3837						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGAGACTCACATCGGCCT	0.592													82	200					0	0	0	0	G	105410277	C	G	105410277	2	3	429	1	0	0	0	0	0	0	0	1	415	813	29	2		2	AHNAK2	14	105410277	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	532	105410277	1939263	587	84854											
AHNAK2	113146	broad.mit.edu	37	chr14	105411033	105411033	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttctgccttggggcctttCaggtccagcttggggccctt	3	13	12	13	0	2	0	1	0	1	0	3	0	3	0	4	5	2	1	4	5	0	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:105411033C>G	ENST00000333244.5	-	7	10874	c.10755G>C	c.(10753-10755)ctG>ctC	p.L3585L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3585						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602													87	171					0	0	0	0	G	105411033	C	G	105411033	2	3	429	1	0	0	0	0	0	0	0	1	415	813	29	2		2	AHNAK2	14	105411033	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	756	105411033	1938507	588	84855											
BRF1	2972	broad.mit.edu	37	chr14	105692409	105692409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcacagtggactcaccatCttttgccaggctggccaggc	7	8	13	13	0	2	0	1	0	1	0	2	1	2	1	3	5	1	2	3	5	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:105692409C>G	ENST00000546474.1	-	10	16004	c.1045G>C	c.(1045-1047)Gat>Cat	p.D349H	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.D322H|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.D234H|BRF1_ENST00000446501.2_Missense_Mutation_p.D111H|BRF1_ENST00000392557.4_Missense_Mutation_p.D145H|BRF1_ENST00000440513.3_Missense_Mutation_p.D234H	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	349					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GACTCACCATCTTTTGCCAGG	0.498													31	53					0	0	0	0	G	105692409	C	G	105692409	3	3	429	1	0	0	0	0	1	0	0	0	1518	913	32	2	1024	2	BRF1	14	105692409	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	281376	105692409	1657131	589	84856											
OR4M2	390538	broad.mit.edu	37	chr15	22369149	22369149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggattgcctgtgccaacAccttcccagaggagttagtg	8	10	11	12	1	0	1	0	0	0	1	2	3	2	3	5	2	3	1	5	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:22369149A>G	ENST00000332663.2	+	1	672	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGTGCCAACACCTTCCCAGA	0.478													44	106					0	0	0	0	G	22369149	A	G	22369149	3	3	429	1	0	0	0	0	1	0	0	0	11147	159	6	5	576	5	OR4M2	15	22369149	Missense_Mutation	SNP	A	TCGA-HL-7533-01A-11D-2229-08		22369149	80162243	590	84857											
CYFIP1	23191	broad.mit.edu	37	chr15	22933613	22933613	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtccatccaggaatcgCagaatctgtccatgttcctg	10	10	8	13	1	1	1	0	0	1	1	6	2	5	2	4	1	0	2	4	1	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:22933613C>T	ENST00000313077.7	+	7	747	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	CYFIP1_ENST00000560848.1_Nonsense_Mutation_p.Q208*	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	208					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCAGGAATCGCAGAATCTGTC	0.502													12	33					0	0	0	0	T	22933613	C	T	22933613	4	4	429	1	0	0	0	0	0	1	0	0	4169	711	25	4	644	4	CYFIP1	15	22933613	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	564464	22933613	79597779	591	84858											
HERC2	8924	broad.mit.edu	37	chr15	28359761	28359761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacggatgaccaccaacctaTagtttatcgccagccgcacg	11	7	9	14	4	0	1	0	1	0	0	1	3	0	2	5	1	2	2	5	1	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:28359761T>C	ENST00000261609.7	-	90	14018	c.13910A>G	c.(13909-13911)tAt>tGt	p.Y4637C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4637	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACCAACCTATAGTTTATCGC	0.502													14	32					0	0	0	0	C	28359761	T	C	28359761	3	2	429	1	0	0	0	0	1	0	0	0	7108	1406	49	5	610	5	HERC2	15	28359761	Missense_Mutation	SNP	T	TCGA-HL-7533-01A-11D-2229-08	5426148	28359761	74171631	592	84859											
HERC2	8924	broad.mit.edu	37	chr15	28380685	28380685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagagtaaacttctccttCtgaagacagggcaaggcagt	13	8	10	10	0	2	3	0	1	2	2	3	3	2	3	2	2	1	3	2	2	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:28380685C>T	ENST00000261609.7	-	79	12277	c.12169G>A	c.(12169-12171)Gaa>Aaa	p.E4057K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4057					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTTCTCCTTCTGAAGACAGG	0.438													37	98					0	0	0	0	T	28380685	C	T	28380685	3	4	429	1	0	0	0	0	1	0	0	0	7108	922	32	2	2395	2	HERC2	15	28380685	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	20924	28380685	74150707	593	84860											
KLF13	51621	broad.mit.edu	37	chr15	31619879	31619879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaaagggtccggcggggccGaagtcgcgccgacctcgagt	8	4	16	13	7	0	0	0	0	0	0	3	3	1	0	4	4	0	0	4	4	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:31619879G>C	ENST00000307145.3	+	1	822	c.464G>C	c.(463-465)cGa>cCa	p.R155P		NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	155	Arg/Lys-rich (basic).				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		CGGCGGGGCCGAAGTCGCGCC	0.716													4	4					0	0	0	0	C	31619879	G	C	31619879	3	2	429	1	0	0	0	0	1	0	0	0	8393	1058	37	3	466	3	KLF13	15	31619879	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3239194	31619879	70911513	594	84861											
CHRNA7	1139	broad.mit.edu	37	chr15	32460260	32460260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagcctggccagtgtggaGatgagcgccgtggcgccgcc	5	6	17	13	4	0	2	0	1	0	1	0	3	0	2	5	3	3	1	5	3	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:32460260G>C	ENST00000306901.3	+	10	1207	c.1110G>C	c.(1108-1110)gaG>gaC	p.E370D	CHRNA7_ENST00000454250.3_Missense_Mutation_p.E399D|CHRNA7_ENST00000455693.2_Missense_Mutation_p.E189D	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	370					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CCAGTGTGGAGATGAGCGCCG	0.706													26	96					0	0	0	0	C	32460260	G	C	32460260	3	2	429	1	0	0	0	0	1	0	0	0	3417	933	33	2	1148	2	CHRNA7	15	32460260	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	840381	32460260	70071132	595	84862											
ZNF770	54989	broad.mit.edu	37	chr15	35275626	35275626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcatttttaaattgttttCagccatcatattcttcaatg	11	19	4	7	0	4	0	3	0	1	0	4	0	4	0	1	0	2	2	1	0	5	10			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:35275626C>T	ENST00000356321.4	-	3	354	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AAATTGTTTTCAGCCATCATA	0.299													4	17					0	0	0	0	T	35275626	C	T	35275626	3	4	429	1	0	0	0	0	1	0	0	0	18237	835	29	2	2069	2	ZNF770	15	35275626	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2815366	35275626	67255766	596	84863											
FSIP1	161835	broad.mit.edu	37	chr15	40068691	40068691	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaatttgaagctggttttGaaattccatctaggtttccc	9	17	8	7	0	1	3	0	3	1	0	3	3	3	3	2	2	1	3	2	2	4	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:40068691G>C	ENST00000350221.3	-	2	244	c.35C>G	c.(34-36)tCa>tGa	p.S12*	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	12										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGCTGGTTTTGAAATTCCATC	0.353													20	52					0	0	0	0	C	40068691	G	C	40068691	4	2	429	1	0	0	0	0	0	1	0	0	6122	1294	45	2	1754	2	FSIP1	15	40068691	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4793065	40068691	62462701	597	84864											
CDAN1	146059	broad.mit.edu	37	chr15	43017724	43017724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccagaagccccacatttCttgggctcagcagcagctgc	8	8	10	15	0	2	1	1	0	1	1	2	1	2	1	3	1	6	4	3	1	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43017724C>G	ENST00000356231.3	-	26	3436	c.3413G>C	c.(3412-3414)aGa>aCa	p.R1138T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1138						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCCCACATTTCTTGGGCTCAG	0.587													29	50					0	0	0	0	G	43017724	C	G	43017724	3	3	429	1	0	0	0	0	1	0	0	0	3083	913	32	2	282	2	CDAN1	15	43017724	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2949033	43017724	59513668	598	84865											
CDAN1	146059	broad.mit.edu	37	chr15	43022882	43022882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggagagaaactccacCagccagggcacggtgagcac	14	2	13	12	1	0	2	0	1	0	1	1	4	1	3	3	3	3	3	3	3	2	0	rs148759214		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43022882C>T	ENST00000356231.3	-	14	2111	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	696						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAAACTCCACCAGCCAGGGCA	0.632													8	19					0	0	0	0	T	43022882	C	T	43022882	2	4	429	1	0	0	0	0	0	0	0	1	3083	581	21	4		4	CDAN1	15	43022882	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5158	43022882	59508510	599	84866											
CDAN1	146059	broad.mit.edu	37	chr15	43022925	43022925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggcgggcctgcagccctCgctgcagcagagtccgcaca	6	4	13	18	4	0	1	0	0	0	1	2	1	1	1	4	2	4	5	4	2	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43022925C>T	ENST00000356231.3	-	14	2068	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	682						integral to membrane	protein binding	p.R682Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGCAGCCCTCGCTGCAGCAG	0.637													5	13					0	0	0	0	T	43022925	C	T	43022925	3	4	429	1	0	0	0	0	1	0	0	0	3083	884	31	1	1698	1	CDAN1	15	43022925	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	43	43022925	59508467	600	84867											
LCMT2	9836	broad.mit.edu	37	chr15	43620883	43620883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaatgaatccagatccctCcaaccagtaacagctttcca	14	8	6	13	0	0	2	0	1	0	1	4	3	4	3	5	1	3	2	5	1	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43620883C>A	ENST00000305641.5	-	1	1920	c.1805G>T	c.(1804-1806)gGa>gTa	p.G602V	LCMT2_ENST00000544735.1_Missense_Mutation_p.G181V|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	602					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CCAGATCCCTCCAACCAGTAA	0.473													13	68					0.00185496	0.00186885	1	0	A	43620883	C	A	43620883	3	1	429	1	0	0	0	0	1	0	0	0	8732	855	30	2	259	2	LCMT2	15	43620883	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	597958	43620883	58910509	601	84868											
MAP1A	4130	broad.mit.edu	37	chr15	43814521	43814521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagggcctagaaaagcttCggcatctggacttcctgcgt	8	10	13	10	2	1	1	0	0	1	1	3	3	2	3	2	4	2	2	2	4	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43814521C>T	ENST00000382031.1	+	5	1595	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	MAP1A_ENST00000300231.5_Missense_Mutation_p.R284W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R284W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	284	9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAAAAGCTTCGGCATCTGGA	0.552													17	36					0	0	0	0	T	43814521	C	T	43814521	3	4	429	1	0	0	0	0	1	0	0	0	9296	875	31	1	852	1	MAP1A	15	43814521	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	193638	43814521	58716871	602	84869											
MAP1A	4130	broad.mit.edu	37	chr15	43821418	43821418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtgtgcatggctgaccccGaggggctcagctcagagtct	7	9	14	11	1	3	2	2	1	1	1	3	3	3	2	2	3	2	4	2	3	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43821418G>A	ENST00000382031.1	+	5	8492	c.8461G>A	c.(8461-8463)Gag>Aag	p.E2821K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E2583K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2583K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2583						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.E2583K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCTGACCCCGAGGGGCTCAG	0.667													24	36					0	0	0	0	A	43821418	G	A	43821418	3	1	429	1	0	0	0	0	1	0	0	0	9296	1059	37	1	7749	1	MAP1A	15	43821418	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6897	43821418	58709974	603	84870											
SECISBP2L	9728	broad.mit.edu	37	chr15	49319637	49319637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttccatccaaggttttttCtgagttgcctggcaagttac	7	17	8	9	0	1	1	0	1	1	0	3	1	3	1	3	2	2	4	3	2	3	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:49319637C>G	ENST00000559471.1	-	7	1223	c.960G>C	c.(958-960)caG>caC	p.Q320H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Q320H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	320										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AAGGTTTTTTCTGAGTTGCCT	0.313													34	84					0	0	0	0	G	49319637	C	G	49319637	3	3	429	1	0	0	0	0	1	0	0	0	14094	912	32	2	2254	2	SECISBP2L	15	49319637	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5498219	49319637	53211755	604	84871											
ATP8B4	79895	broad.mit.edu	37	chr15	50152651	50152651	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggccttgccttcttttGagccttctgccaccggcgga	4	12	12	13	2	2	1	0	1	2	0	2	3	2	3	5	4	3	0	5	4	0	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:50152651G>C	ENST00000284509.6	-	28	3460	c.3319C>G	c.(3319-3321)Caa>Gaa	p.Q1107E	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q1107E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1107					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCCTTCTTTTGAGCCTTCTGC	0.522													26	70					0	0	0	0	C	50152651	G	C	50152651	3	2	429	1	0	0	0	0	1	0	0	0	1201	1299	45	2	263	2	ATP8B4	15	50152651	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	833014	50152651	52378741	605	84872											
ONECUT1	3175	broad.mit.edu	37	chr15	53081071	53081071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggccggatttgagtttgctCcagggtttggggttgcgcag	4	12	17	8	3	0	1	0	1	0	0	1	2	1	2	2	5	2	5	2	5	0	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:53081071C>A	ENST00000305901.5	-	1	1138	c.1011G>T	c.(1009-1011)tgG>tgT	p.W337C	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	337					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGAGTTTGCTCCAGGGTTTGG	0.647													24	65					7.87624e-14	8.2041e-14	1	0	A	53081071	C	A	53081071	3	1	429	1	0	0	0	0	1	0	0	0	10939	856	30	2	394	2	ONECUT1	15	53081071	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2928420	53081071	49450321	606	84873											
LRRC49	54839	broad.mit.edu	37	chr15	71193302	71193302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctcatcattgtcatcatttCctattcttcaacgttcttct	7	19	3	12	1	8	0	5	0	3	0	9	0	9	0	1	0	1	2	1	0	2	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:71193302C>T	ENST00000260382.5	+	4	495	c.235C>T	c.(235-237)Cct>Tct	p.P79S	LRRC49_ENST00000443425.2_Missense_Mutation_p.P35S|LRRC49_ENST00000560369.1_Missense_Mutation_p.P84S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.P69S|LRRC49_ENST00000560691.1_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	79						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCATCATTTCCTATTCTTCA	0.308													13	38					0	0	0	0	T	71193302	C	T	71193302	3	4	429	1	0	0	0	0	1	0	0	0	9070	855	30	2	249	2	LRRC49	15	71193302	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	18112231	71193302	31338090	607	84874											
NRG4	145957	broad.mit.edu	37	chr15	76248315	76248315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtctctaccaggttgatatCatactggactgaactggctc	9	12	9	11	1	2	2	1	2	1	0	4	3	2	3	1	3	3	2	1	3	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:76248315C>T	ENST00000394907.3	-	5	470	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	97						extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						AGGTTGATATCATACTGGACT	0.408													23	52					0	0	0	0	T	76248315	C	T	76248315	3	4	429	1	0	0	0	0	1	0	0	0	10721	826	29	2	66	2	NRG4	15	76248315	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5055013	76248315	26283077	608	84875											
WDR61	80349	broad.mit.edu	37	chr15	78581964	78581964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagatgatgatatataccttCcagggtatgcagaagttttc	13	13	9	6	0	0	4	0	2	0	2	2	4	1	4	2	1	2	3	2	1	6	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:78581964C>T	ENST00000267973.2	-	7	830	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	WDR61_ENST00000558459.1_Missense_Mutation_p.E94K|WDR61_ENST00000558311.1_Missense_Mutation_p.E187K			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	187							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TATATACCTTCCAGGGTATGC	0.363													12	49					0	0	0	0	T	78581964	C	T	78581964	3	4	429	1	0	0	0	0	1	0	0	0	17408	864	30	2	378	2	WDR61	15	78581964	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2333649	78581964	23949428	609	84876											
FAM154B	283726	broad.mit.edu	37	chr15	82575232	82575232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaaatattgcttttaaGagttctgttccatttgatga	10	19	6	6	0	1	3	0	2	1	1	2	3	2	3	2	0	1	3	2	0	4	9			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:82575232G>T	ENST00000339465.5	+	3	1095	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.K327N	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	342										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TTGCTTTTAAGAGTTCTGTTC	0.403													19	40					2.94398e-08	3.01688e-08	1	0	T	82575232	G	T	82575232	3	4	429	1	0	0	0	0	1	0	0	0	5505	933	33	2	1036	2	FAM154B	15	82575232	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3993268	82575232	19956160	610	84877											
CPEB1	64506	broad.mit.edu	37	chr15	83218270	83218270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactccaccaaataggtCgttcaagatggctgccaggg	11	7	10	13	1	1	1	1	0	0	1	3	1	2	1	4	3	1	2	4	3	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:83218270C>A	ENST00000563800.1	-	9	3145	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	CPEB1_ENST00000398591.2_Missense_Mutation_p.D377Y|CPEB1_ENST00000398592.2_Missense_Mutation_p.D221Y|CPEB1_ENST00000423133.2_Missense_Mutation_p.D372Y|RP11-152F13.10_ENST00000562833.1_Silent_p.T181T|CPEB1_ENST00000568757.1_Missense_Mutation_p.D372Y|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.D447Y|CPEB1_ENST00000562019.1_Missense_Mutation_p.D452Y|CPEB1_ENST00000564522.1_Missense_Mutation_p.D372Y|CPEB1_ENST00000261723.6_Missense_Mutation_p.D450Y|CPEB1_ENST00000450751.2_Missense_Mutation_p.D372Y			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	452	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAAATAGGTCGTTCAAGATG	0.542													4	52					0.150653	0.151216	1	0	A	83218270	C	A	83218270	3	1	429	1	0	0	0	0	1	0	0	0	3830	884	31	3	362	3	CPEB1	15	83218270	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	643038	83218270	19313122	611	84878											
ZNF592	9640	broad.mit.edu	37	chr15	85327563	85327563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctgccccactgattgtaGaggtcttcaacaaggtcctt	9	11	10	11	0	2	2	1	1	1	1	3	2	3	2	3	3	2	2	3	3	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:85327563G>A	ENST00000299927.3	+	1	1679	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	ZNF592_ENST00000560079.2_Missense_Mutation_p.E553K			Q92610	ZN592_HUMAN	zinc finger protein 592	553					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTGATTGTAGAGGTCTTCAA	0.592													27	73					0	0	0	0	A	85327563	G	A	85327563	3	1	429	1	0	0	0	0	1	0	0	0	18117	943	33	2	1659	2	ZNF592	15	85327563	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2109293	85327563	17203829	612	84879											
MRPL46	26589	broad.mit.edu	37	chr15	89010392	89010392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtcccacctgctgcagtaGagacgccatctcttcctgca	8	9	8	16	1	1	1	0	0	1	1	4	2	3	1	4	0	3	4	4	0	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:89010392G>A	ENST00000312475.4	-	1	258	c.217C>T	c.(217-219)Cta>Tta	p.L73L		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	73						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TGCTGCAGTAGAGACGCCATC	0.537													15	34					0	0	0	0	A	89010392	G	A	89010392	2	1	429	1	0	0	0	0	0	0	0	1	9880	933	33	2		2	MRPL46	15	89010392	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3682829	89010392	13521000	613	84880											
KIF7	374654	broad.mit.edu	37	chr15	90172735	90172735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacaccagcctctgctgctCctccagctgcatctccagtt	6	11	7	17	0	2	0	0	0	2	0	5	0	4	0	5	0	6	6	5	0	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:90172735C>T	ENST00000394412.3	-	17	3464	c.3388G>A	c.(3388-3390)Gag>Aag	p.E1130K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1130					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCTGCTGCTCCTCCAGCTGC	0.647													39	89					0	0	0	0	T	90172735	C	T	90172735	3	4	429	1	0	0	0	0	1	0	0	0	8360	864	30	2	655	2	KIF7	15	90172735	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1162343	90172735	12358657	614	84881											
TTLL13	440307	broad.mit.edu	37	chr15	90801269	90801269	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcactgggcctcgcaGgaagctgtcgacactcaaca	10	7	11	13	2	2	1	1	1	1	0	4	3	2	2	1	2	3	3	1	2	2	0	rs146502095		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:90801269G>A	ENST00000438251.1	+	9	1225		c.e9-1		TTLL13_ENST00000339615.5_Splice_Site|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13						protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGGCCTCGCAGGAAGCTGTCG	0.572													17	33					0	0	0	0	A	90801269	G	A	90801269	5	1	429	1	0	0	0	0	0	0	1	0	16822	1014	35	4	965	4	TTLL13	15	90801269	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	628534	90801269	11730123	615	84882											
SV2B	9899	broad.mit.edu	37	chr15	91795215	91795215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttcctcttctgccgactCatctcaggcatcgggtatgt	5	13	9	14	2	4	0	2	0	3	0	7	1	5	0	3	2	1	2	3	2	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:91795215C>T	ENST00000394232.1	+	3	1088	c.618C>T	c.(616-618)ctC>ctT	p.L206L	SV2B_ENST00000545111.2_Silent_p.L55L|SV2B_ENST00000330276.4_Silent_p.L206L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	206					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTGCCGACTCATCTCAGGCA	0.547													28	52					0	0	0	0	T	91795215	C	T	91795215	2	4	429	1	0	0	0	0	0	0	0	1	15508	813	29	2		2	SV2B	15	91795215	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	993946	91795215	10736177	616	84883											
IGF1R	3480	broad.mit.edu	37	chr15	99456477	99456477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccatatccgtggggccaaGagtgagatcttgtacattcg	10	10	12	9	2	1	2	0	1	1	2	3	4	2	2	3	2	1	1	3	2	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:99456477G>C	ENST00000268035.6	+	8	2405	c.1794G>C	c.(1792-1794)aaG>aaC	p.K598N	IGF1R_ENST00000558762.1_Missense_Mutation_p.K598N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	598	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTGGGGCCAAGAGTGAGATCT	0.537													10	91					0	0	0	0	C	99456477	G	C	99456477	3	2	429	1	0	0	0	0	1	0	0	0	7624	933	33	2	1824	2	IGF1R	15	99456477	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7661262	99456477	3074915	617	84884											
TARSL2	123283	broad.mit.edu	37	chr15	102252183	102252183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggcctccccaagaatgtGagcactggagtgccagtaca	11	7	11	12	0	0	2	0	1	0	1	1	3	1	3	4	2	3	2	4	2	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:102252183G>C	ENST00000335968.3	-	5	928	c.712C>G	c.(712-714)Cac>Gac	p.H238D		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	238					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAAGAATGTGAGCACTGGAG	0.443													9	20					0	0	0	0	C	102252183	G	C	102252183	3	2	429	1	0	0	0	0	1	0	0	0	15652	1290	45	2	1756	2	TARSL2	15	102252183	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2795706	102252183	279209	618	84885											
MSLNL	401827	broad.mit.edu	37	chr16	819431	819431	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtaggttggcctggcctaGagctggcccgtcagcccaag	6	7	16	12	1	1	1	1	0	0	1	1	1	1	1	4	5	2	3	4	5	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:819431G>C	ENST00000293892.3	-	16	3158	c.3159C>G	c.(3157-3159)ctC>ctG	p.L1053L	MSLNL_ENST00000442466.1_Silent_p.L702L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	702					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCCTGGCCTAGAGCTGGCCCG	0.637													6	37					0	0	0	0	C	819431	G	C	819431	2	2	429	1	0	0	0	0	0	0	0	1	9952	929	33	2		2	MSLNL	16	819431	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08		819431	89535322	619	84886											
TPSB2	64499	broad.mit.edu	37	chr16	1279656	1279656	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtatcggtcgcggactctCaggctcacctgccagggcca	7	7	12	15	3	2	0	2	0	1	0	5	1	2	1	3	4	1	2	3	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:1279656C>G	ENST00000430512.2	-	0	195				TPSB2_ENST00000339687.6_RNA|TPSB2_ENST00000445910.1_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CGCGGACTCTCAGGCTCACCT	0.697													7	50					0	0	0	0	G	1279656	C	G	1279656	1	3	429	0	1	0	0	0	0	0	0	0	16519	813	29	2		2	TPSB2	16	1279656	RNA	SNP	C	TCGA-HL-7533-01A-11D-2229-08	460225	1279656	89075097	620	84887											
PTX4	390667	broad.mit.edu	37	chr16	1537722	1537722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccgctgctggctcctctCgcccagggtgaggtccaagg	4	7	15	15	2	1	1	0	1	1	0	4	1	3	1	4	5	1	3	4	5	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:1537722C>T	ENST00000447419.2	-	2	416	c.391G>A	c.(391-393)Gag>Aag	p.E131K	PTX4_ENST00000293922.1_Missense_Mutation_p.E126K|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	131						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGGCTCCTCTCGCCCAGGGTG	0.701													30	38					0	0	0	0	T	1537722	C	T	1537722	3	4	429	1	0	0	0	0	1	0	0	0	12905	893	31	1	1052	1	PTX4	16	1537722	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	258066	1537722	88817031	621	84888											
HS3ST6	64711	broad.mit.edu	37	chr16	1962146	1962146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggggcctctcgcgtcacGaagtagctgggggtcttctc	4	9	16	12	4	4	0	1	0	3	0	6	1	4	0	1	5	1	2	1	5	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:1962146G>A	ENST00000454677.2	-	2	590	c.525C>T	c.(523-525)ttC>ttT	p.F175F	HS3ST6_ENST00000293937.3_Silent_p.F158F|HS3ST6_ENST00000443547.1_Silent_p.F127F			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	127										endometrium(2)|lung(2)	4						CTCGCGTCACGAAGTAGCTGG	0.677													7	15					0	0	0	0	A	1962146	G	A	1962146	2	1	429	1	0	0	0	0	0	0	0	1	7419	1049	37	1		1	HS3ST6	16	1962146	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	424424	1962146	88392607	622	84889											
CASKIN1	57524	broad.mit.edu	37	chr16	2228626	2228626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtccaggatgctgccagtGctcttttccgccgccgagtc	4	11	11	15	4	1	0	0	0	1	0	5	2	3	1	5	1	3	2	5	1	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:2228626G>A	ENST00000343516.6	-	20	4313	c.4221C>T	c.(4219-4221)agC>agT	p.S1407S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1407					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCTGCCAGTGCTCTTTTCCG	0.726													6	18					0	0	0	0	A	2228626	G	A	2228626	2	1	429	1	0	0	0	0	0	0	0	1	2691	1310	46	4		4	CASKIN1	16	2228626	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	266480	2228626	88126127	623	84890											
RNPS1	10921	broad.mit.edu	37	chr16	2313199	2313199	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggtgctggagcttcctGagcggctggatgctgaggaa	7	8	19	7	1	0	2	0	2	0	0	1	6	1	6	1	6	4	4	1	6	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:2313199G>C	ENST00000565678.1	-	4	862	c.317C>G	c.(316-318)tCa>tGa	p.S106*	RNPS1_ENST00000320225.5_Nonsense_Mutation_p.S106*|RNPS1_ENST00000568631.1_Nonsense_Mutation_p.S106*|RNPS1_ENST00000301730.8_Nonsense_Mutation_p.S106*|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000397086.2_Nonsense_Mutation_p.S106*|RNPS1_ENST00000566458.1_Nonsense_Mutation_p.S83*|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000567147.1_Nonsense_Mutation_p.S83*			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	106	Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Necessary for interactions with UPF2 and UPF3B and UPF2-dependent NMD.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						ggagcttcctgagcggctgga	0.637													14	16					0	0	0	0	C	2313199	G	C	2313199	4	2	429	1	0	0	0	0	0	1	0	0	13596	1294	45	2	620	2	RNPS1	16	2313199	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	84573	2313199	88041554	624	84891											
AMDHD2	51005	broad.mit.edu	37	chr16	2580409	2580409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcaaacacgggccgtGaggctccctgaacagcttcg	9	7	13	12	3	0	2	0	2	0	0	2	2	1	2	2	3	3	3	2	3	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:2580409G>T	ENST00000413459.3	+	11	1503	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000382350.1_Silent_p.L222L|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Silent_p.L222L	NM_001145815.1	NP_001139287.1	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	0					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CACGGGCCGTGAGGCTCCCTG	0.632													9	14					0.000673444	0.000679762	1	0	T	2580409	G	T	2580409	2	4	429	1	0	0	0	0	0	0	0	1	568	1277	45	2		2	AMDHD2	16	2580409	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	267210	2580409	87774344	625	84892											
ZNF263	10127	broad.mit.edu	37	chr16	3340070	3340070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgaccttataagtgtcccGagtgtgggaaaagtttctct	10	12	11	8	2	1	0	0	0	1	0	3	3	2	1	2	1	1	1	2	1	4	3	rs142452283		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:3340070G>A	ENST00000219069.5	+	6	2440	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	ZNF263_ENST00000538765.1_Missense_Mutation_p.E170K	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	522					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TAAGTGTCCCGAGTGTGGGAA	0.512													14	29					0	0	0	0	A	3340070	G	A	3340070	3	1	429	1	0	0	0	0	1	0	0	0	17898	1059	37	1	1586	1	ZNF263	16	3340070	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	759661	3340070	87014683	626	84893											
NLRC3	197358	broad.mit.edu	37	chr16	3614248	3614248	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcaggccacggtgttggaGaagtccagaggcgtcctgca	8	7	16	10	2	0	2	0	0	0	2	2	3	2	2	3	4	2	3	3	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:3614248G>A	ENST00000301749.7	-	0	1095				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTGTTGGAGAAGTCCAGAG	0.622													9	26					0	0	0	0	A	3614248	G	A	3614248	1	1	429	0	1	0	0	0	0	0	0	0	10538	933	33	2		2	NLRC3	16	3614248	RNA	SNP	G	TCGA-HL-7533-01A-11D-2229-08	274178	3614248	86740505	627	84894											
MGRN1	23295	broad.mit.edu	37	chr16	4700382	4700382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggaaactactttgcttcGcactttttcatgggaggaga	11	12	10	8	1	1	1	1	0	0	1	2	4	1	3	0	3	3	2	0	3	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:4700382G>A	ENST00000399577.5	+	2	198	c.105G>A	c.(103-105)tcG>tcA	p.S35S	MGRN1_ENST00000262370.7_Silent_p.S35S|MGRN1_ENST00000588994.1_Silent_p.S35S|MGRN1_ENST00000415496.1_Silent_p.S35S|MGRN1_ENST00000586183.1_Silent_p.S35S	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	35					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACTTTGCTTCGCACTTTTTCA	0.458													32	83					0	0	0	0	A	4700382	G	A	4700382	2	1	429	1	0	0	0	0	0	0	0	1	9628	1074	38	1		1	MGRN1	16	4700382	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1086134	4700382	85654371	628	84895											
PPL	5493	broad.mit.edu	37	chr16	4944533	4944533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacacacggccggagcaatCagcttgttcccagcgctgtc	10	7	10	14	3	1	0	1	0	0	0	3	1	2	1	2	2	4	4	2	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:4944533C>T	ENST00000345988.2	-	12	1418	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	PPL_ENST00000590782.2_Silent_p.L441L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	443					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCGGAGCAATCAGCTTGTTCC	0.637													30	46					0	0	0	0	T	4944533	C	T	4944533	2	4	429	1	0	0	0	0	0	0	0	1	12410	813	29	2		2	PPL	16	4944533	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	244151	4944533	85410220	629	84896											
GRIN2A	2903	broad.mit.edu	37	chr16	9892210	9892210	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgaagggcaattccataAccggtggtggcaaagatgta	12	10	12	7	1	1	2	0	1	1	1	2	2	2	2	2	4	1	3	2	4	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:9892210A>C	ENST00000396573.2	-	12	2589	c.2280T>G	c.(2278-2280)ggT>ggG	p.G760G	GRIN2A_ENST00000396575.2_Silent_p.G760G|GRIN2A_ENST00000562109.1_Silent_p.G760G|GRIN2A_ENST00000404927.2_Silent_p.G760G|GRIN2A_ENST00000535259.1_Silent_p.G603G|GRIN2A_ENST00000330684.3_Silent_p.G760G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	760					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAATTCCATAACCGGTGGTGG	0.542													12	22					0	0	0	0	C	9892210	A	C	9892210	2	2	429	1	0	0	0	0	0	0	0	1	6829	30	2	5		5	GRIN2A	16	9892210	Silent	SNP	A	TCGA-HL-7533-01A-11D-2229-08	4947677	9892210	80462543	630	84897											
ERCC4	2072	broad.mit.edu	37	chr16	14028072	14028072	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaaaaggaactggtcctaGaaagcaacccaaagtgggag	18	4	11	8	0	0	1	0	0	0	1	1	3	1	3	2	3	3	1	2	3	8	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:14028072G>C	ENST00000311895.7	+	7	1135	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	376					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ACTGGTCCTAGAAAGCAACCC	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				40	92					0	0	0	0	C	14028072	G	C	14028072	3	2	429	1	0	0	0	0	1	0	0	0	5253	943	33	2	1152	2	ERCC4	16	14028072	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4135862	14028072	76326681	631	84898											
TMC7	79905	broad.mit.edu	37	chr16	19027907	19027907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagctgtggcgggaggacatCcgcagcatagaaggtatgct	10	7	16	8	2	0	1	0	0	0	1	1	4	1	3	1	4	3	5	1	4	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:19027907C>G	ENST00000421369.3	+	3	675	c.117C>G	c.(115-117)atC>atG	p.I39M	TMC7_ENST00000569532.1_Missense_Mutation_p.I149M|TMC7_ENST00000304381.5_Missense_Mutation_p.I149M	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	149						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGGAGGACATCCGCAGCATAG	0.562													10	23					0	0	0	0	G	19027907	C	G	19027907	3	3	429	1	0	0	0	0	1	0	0	0	16084	845	30	2	457	2	TMC7	16	19027907	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4999835	19027907	71326846	632	84899											
ACSM5	54988	broad.mit.edu	37	chr16	20451748	20451748	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtcaggagtgggggaaatGaggtgcaccccaggaaggcc	12	4	17	8	0	1	1	1	1	0	0	1	4	1	4	3	6	1	1	3	6	3	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:20451748G>C	ENST00000331849.4	+	14	1886	c.1739G>C	c.(1738-1740)tGa>tCa	p.*580S	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	0					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGGGGAAATGAGGTGCACCC	0.507													3	15					0	0	0	0	C	20451748	G	C	20451748	4	2	429	1	0	0	0	0	0	0	0	0	187	1285	45	2	1789	2	ACSM5	16	20451748	Nonstop_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1423841	20451748	69903005	633	84900											
ACSM2B	348158	broad.mit.edu	37	chr16	20563504	20563504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaaactttggcaagagatGaacaaatgtgcatgctccta	14	10	9	8	0	1	2	1	1	0	1	2	3	2	2	1	1	4	3	1	1	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:20563504G>C	ENST00000329697.6	-	6	1024	c.856C>G	c.(856-858)Cat>Gat	p.H286D	ACSM2B_ENST00000565322.1_Missense_Mutation_p.H207D|ACSM2B_ENST00000567001.1_Missense_Mutation_p.H286D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.H286D|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	286					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGCAAGAGATGAACAAATGTG	0.433													67	110					0	0	0	0	C	20563504	G	C	20563504	3	2	429	1	0	0	0	0	1	0	0	0	184	1290	45	2	913	2	ACSM2B	16	20563504	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	111756	20563504	69791249	634	84901											
KIF22	3835	broad.mit.edu	37	chr16	29816249	29816249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatactggatctgctgaacGaaggctcagcccgagatctc	12	8	10	11	2	3	2	1	1	2	1	4	5	3	3	1	2	4	2	1	2	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:29816249G>A	ENST00000561482.1	+	12	2225	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	KIF22_ENST00000160827.4_Missense_Mutation_p.E598K|KIF22_ENST00000569382.2_Missense_Mutation_p.E544K|KIF22_ENST00000400751.5_Missense_Mutation_p.E530K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	598					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCTGCTGAACGAAGGCTCAGC	0.612													16	16					0	0	0	0	A	29816249	G	A	29816249	3	1	429	1	0	0	0	0	1	0	0	0	8341	1059	37	1	1838	1	KIF22	16	29816249	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	9252745	29816249	60538504	635	84902											
HIRIP3	8479	broad.mit.edu	37	chr16	30005976	30005976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttccccttgtaccccttttCctcctcctcactgctctcct	2	16	2	21	0	2	0	1	0	1	0	7	0	6	0	8	0	2	2	8	0	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:30005976C>T	ENST00000279392.3	-	4	1320	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	164	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TACCCCTTTTCCTCCTCCTCA	0.567													109	129					0	0	0	0	T	30005976	C	T	30005976	3	4	429	1	0	0	0	0	1	0	0	0	7171	864	30	2	1196	2	HIRIP3	16	30005976	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	189727	30005976	60348777	636	84903											
VPS35	55737	broad.mit.edu	37	chr16	46696241	46696241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctgatcaggtttctttaGaagtttggatgcagcaaggg	9	12	13	7	0	2	2	1	1	1	1	2	3	2	3	1	3	2	4	1	3	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:46696241G>C	ENST00000299138.7	-	15	2039	c.1981C>G	c.(1981-1983)Cta>Gta	p.L661V		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	661					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGTTTCTTTAGAAGTTTGGAT	0.488													22	38					0	0	0	0	C	46696241	G	C	46696241	3	2	429	1	0	0	0	0	1	0	0	0	17299	933	33	2	421	2	VPS35	16	46696241	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	16690265	46696241	43658512	637	84904											
N4BP1	9683	broad.mit.edu	37	chr16	48596194	48596194	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcctcagcacttcctctGatgccaagaaggccaatgtc	11	8	8	14	0	2	2	1	1	1	1	4	2	3	2	4	1	3	1	4	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:48596194G>A	ENST00000262384.3	-	2	596	c.360C>T	c.(358-360)atC>atT	p.I120I	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	120					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CACTTCCTCTGATGCCAAGAA	0.443													13	34					0	0	0	0	A	48596194	G	A	48596194	2	1	429	1	0	0	0	0	0	0	0	1	10179	1280	45	2		2	N4BP1	16	48596194	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1899953	48596194	41758559	638	84905											
RBL2	5934	broad.mit.edu	37	chr16	53513068	53513068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcttattgtttgccaggtCacaaaagaagataagtcctt	13	13	7	8	0	2	2	1	0	1	2	3	2	3	2	2	1	1	1	2	1	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:53513068C>T	ENST00000262133.6	+	18	2843	c.2706C>T	c.(2704-2706)gtC>gtT	p.V902V	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	902	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTGCCAGGTCACAAAAGAAG	0.458													16	51					0	0	0	0	T	53513068	C	T	53513068	2	4	429	1	0	0	0	0	0	0	0	1	13192	813	29	2		2	RBL2	16	53513068	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4916874	53513068	36841685	639	84906											
CETP	1071	broad.mit.edu	37	chr16	57015126	57015126	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaagctcttcttaagcctCttggatttccagtatgtgct	10	15	7	9	0	3	0	0	0	3	0	4	1	4	1	2	1	3	3	2	1	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:57015126C>G	ENST00000200676.3	+	12	1333	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	CETP_ENST00000566128.1_Silent_p.L336L|CETP_ENST00000379780.2_Silent_p.L341L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	401					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCTTAAGCCTCTTGGATTTCC	0.557													5	97					0	0	0	0	G	57015126	C	G	57015126	2	3	429	1	0	0	0	0	0	0	0	1	3306	900	32	2		2	CETP	16	57015126	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3502058	57015126	33339627	640	84907											
NLRC5	84166	broad.mit.edu	37	chr16	57081464	57081464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccctttgcagcctcagtGagtgtcctctggagccccca	5	10	10	16	0	2	1	1	1	1	0	3	2	3	2	6	1	4	1	6	1	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:57081464G>A	ENST00000436936.1	+	23	3571	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	NLRC5_ENST00000308149.7_Missense_Mutation_p.E1116K|NLRC5_ENST00000262510.6_Missense_Mutation_p.E1116K|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1116K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1116					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCCTCAGTGAGTGTCCTCT	0.627													5	13					0	0	0	0	A	57081464	G	A	57081464	3	1	429	1	0	0	0	0	1	0	0	0	10540	1291	45	2	3428	2	NLRC5	16	57081464	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	66338	57081464	33273289	641	84908											
CCDC102A	92922	broad.mit.edu	37	chr16	57562750	57562750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgcgcgcgcggttgcgctCagcgcgcaccttgctccatt	3	9	12	17	8	1	0	1	0	0	0	3	0	2	0	2	1	3	4	2	1	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:57562750C>T	ENST00000258214.2	-	2	586	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	114										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CGGTTGCGCTCAGCGCGCACC	0.731													9	13					0	0	0	0	T	57562750	C	T	57562750	3	4	429	1	0	0	0	0	1	0	0	0	2761	835	29	2	1344	2	CCDC102A	16	57562750	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	481286	57562750	32792003	642	84909											
ZNF319	57567	broad.mit.edu	37	chr16	58032106	58032106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtggctctgcatggtgctGaggctgcggtggctgtggct	2	11	19	9	2	1	1	0	1	1	0	1	1	1	1	0	7	3	6	0	7	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:58032106G>A	ENST00000299237.2	-	2	686	c.64C>T	c.(64-66)Cag>Tag	p.Q22*		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	22	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCATGGTGCTGAGGCTGCGGT	0.647													34	59					0	0	0	0	A	58032106	G	A	58032106	4	1	429	1	0	0	0	0	0	1	0	0	17932	1299	45	2	1688	2	ZNF319	16	58032106	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	469356	58032106	32322647	643	84910											
GOT2	2806	broad.mit.edu	37	chr16	58742194	58742194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaactccttgatcagccgctCcacctgcagagaggaaagaa	13	6	10	12	1	1	3	1	1	0	2	3	6	3	4	4	1	3	2	4	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:58742194C>G	ENST00000245206.5	-	10	1302	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	GOT2_ENST00000434819.2_Missense_Mutation_p.E349Q	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	392					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATCAGCCGCTCCACCTGCAGA	0.557													19	22					0	0	0	0	G	58742194	C	G	58742194	3	3	429	1	0	0	0	0	1	0	0	0	6629	864	30	2	122	2	GOT2	16	58742194	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	710088	58742194	31612559	644	84911											
KCTD19	146212	broad.mit.edu	37	chr16	67338376	67338376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagggtttgctaatacacttCcatgtacgccagtagttcag	10	12	10	9	1	1	0	1	0	0	0	2	1	2	0	2	1	3	5	2	1	4	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67338376C>G	ENST00000304372.5	-	3	454	c.399G>C	c.(397-399)tgG>tgC	p.W133C	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	133						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TAATACACTTCCATGTACGCC	0.488													34	93					0	0	0	0	G	67338376	C	G	67338376	3	3	429	1	0	0	0	0	1	0	0	0	8159	856	30	2	2437	2	KCTD19	16	67338376	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8596182	67338376	23016377	645	84912											
CTCF	10664	broad.mit.edu	37	chr16	67670652	67670652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagcctgccgtagaaattGaacctgagccagagcctcag	12	6	12	11	1	1	4	1	2	0	2	1	5	1	5	5	1	5	1	5	1	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67670652G>A	ENST00000264010.4	+	11	2341	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	CTCF_ENST00000401394.1_Missense_Mutation_p.E305K	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	633					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGTAGAAATTGAACCTGAGCC	0.567													65	140					0	0	0	0	A	67670652	G	A	67670652	3	1	429	1	0	0	0	0	1	0	0	0	4032	1291	45	2	1931	2	CTCF	16	67670652	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	332276	67670652	22684101	646	84913											
CTCF	10664	broad.mit.edu	37	chr16	67671611	67671611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacagctatcattcaggttGaagaccagaatacaggtgca	15	8	9	9	0	2	3	2	1	0	2	2	3	2	3	1	2	4	3	1	2	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67671611G>C	ENST00000264010.4	+	12	2464	c.2020G>C	c.(2020-2022)Gaa>Caa	p.E674Q	CTCF_ENST00000401394.1_Missense_Mutation_p.E346Q	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	674					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CATTCAGGTTGAAGACCAGAA	0.468													17	47					0	0	0	0	C	67671611	G	C	67671611	3	2	429	1	0	0	0	0	1	0	0	0	4032	1291	45	2	2058	2	CTCF	16	67671611	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	959	67671611	22683142	647	84914											
RANBP10	57610	broad.mit.edu	37	chr16	67763683	67763683	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcgggagctcaaactTcggacctcactgtccgtccc	6	9	11	15	3	2	0	2	0	0	0	6	2	4	2	3	3	2	2	3	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67763683T>G	ENST00000317506.3	-	9	1162	c.1047A>C	c.(1045-1047)cgA>cgC	p.R349R	RANBP10_ENST00000602677.1_Silent_p.R349R|RANBP10_ENST00000536251.1_Silent_p.R120R|RANBP10_ENST00000448631.2_Silent_p.R293R|RANBP10_ENST00000411657.2_Silent_p.R232R	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	349	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCTCAAACTTCGGACCTCAC	0.597													14	86					0	0	0	0	G	67763683	T	G	67763683	2	3	429	1	0	0	0	0	0	0	0	1	13108	1770	62	5		5	RANBP10	16	67763683	Silent	SNP	T	TCGA-HL-7533-01A-11D-2229-08	92072	67763683	22591070	648	84915											
EDC4	23644	broad.mit.edu	37	chr16	67915424	67915424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagccatgggatcccggctCacagagcaccaggtaagtga	11	5	13	12	1	1	2	1	1	0	1	2	3	2	3	3	3	2	4	3	3	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67915424C>T	ENST00000358933.5	+	21	3053	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	938					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GATCCCGGCTCACAGAGCACC	0.592													22	45					0	0	0	0	T	67915424	C	T	67915424	2	4	429	1	0	0	0	0	0	0	0	1	4944	813	29	2		2	EDC4	16	67915424	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	151741	67915424	22439329	649	84916											
SLC7A6	9057	broad.mit.edu	37	chr16	68330580	68330580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgctccgtgtttctggtGatagtgcccctcttcactga	6	15	9	11	1	3	2	1	2	2	0	4	2	4	2	3	1	2	2	3	1	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:68330580G>A	ENST00000566454.1	+	11	1589	c.1320G>A	c.(1318-1320)gtG>gtA	p.V440V	SLC7A6_ENST00000219343.6_Silent_p.V440V	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	440					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGTTTCTGGTGATAGTGCCCC	0.488													6	224					0	0	0	0	A	68330580	G	A	68330580	2	1	429	1	0	0	0	0	0	0	0	1	14789	1277	45	2		2	SLC7A6	16	68330580	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	415156	68330580	22024173	650	84917											
CIRH1A	84916	broad.mit.edu	37	chr16	69170620	69170620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcccaggtcatgagtctCgggctacagaagctttgtgc	7	13	11	10	1	2	2	1	1	1	1	4	2	3	2	1	2	3	2	1	2	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:69170620C>T	ENST00000563094.1	+	3	215	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CIRH1A_ENST00000352319.4_Missense_Mutation_p.R61W|CIRH1A_ENST00000314423.7_Missense_Mutation_p.R61W			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	61						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TCATGAGTCTCGGGCTACAGA	0.463													58	160					0	0	0	0	T	69170620	C	T	69170620	3	4	429	1	0	0	0	0	1	0	0	0	3463	875	31	1	187	1	CIRH1A	16	69170620	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	840040	69170620	21184133	651	84918											
NFAT5	10725	broad.mit.edu	37	chr16	69681260	69681260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagctgcagtatgtggatgGaggattccccctccaacttc	9	10	11	11	0	0	1	0	0	0	1	3	4	2	4	3	3	3	3	3	3	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:69681260G>C	ENST00000349945.1	+	5	1853	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	NFAT5_ENST00000566899.1_Missense_Mutation_p.E101Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.E195Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.E195Q|NFAT5_ENST00000393742.2_Missense_Mutation_p.E101Q|NFAT5_ENST00000354436.2_Missense_Mutation_p.E177Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	177					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TATGTGGATGGAGGATTCCCC	0.502													15	52					0	0	0	0	C	69681260	G	C	69681260	3	2	429	1	0	0	0	0	1	0	0	0	10430	1175	41	2	597	2	NFAT5	16	69681260	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	510640	69681260	20673493	652	84919											
MLYCD	23417	broad.mit.edu	37	chr16	83948560	83948560	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccccaaccatgctttacaGagagagtttcctcaccttgg	10	10	7	14	0	1	2	1	0	0	2	2	3	2	2	5	1	3	2	5	1	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:83948560G>C	ENST00000262430.4	+	5	967		c.e5-1		RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase						acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATGCTTTACAGAGAGAGTTTC	0.493													57	110					0	0	0	0	C	83948560	G	C	83948560	5	2	429	1	0	0	0	0	0	0	1	0	9707	956	33	2	966	2	MLYCD	16	83948560	Splice_Site	SNP	G	TCGA-HL-7533-01A-11D-2229-08	14267300	83948560	6406193	653	84920											
TCF25	22980	broad.mit.edu	37	chr16	89977645	89977645	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggagggggagtgggactGagcgtccgcagaggtgaccg	7	4	23	7	3	0	3	0	2	0	1	1	6	1	6	2	6	1	1	2	6	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:89977645G>C	ENST00000263346.8	+	18	2086	c.2030G>C	c.(2029-2031)tGa>tCa	p.*677S	TCF25_ENST00000263347.7_3'UTR|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	0					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GAGTGGGACTGAGCGTCCGCA	0.607													18	45					0	0	0	0	C	89977645	G	C	89977645	4	2	429	1	0	0	0	0	0	0	0	0	15787	1285	45	2	2100	2	TCF25	16	89977645	Nonstop_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6029085	89977645	377108	654	84921											
RNMTL1	55178	broad.mit.edu	37	chr17	686377	686377	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgggaaaaacaagggaagatCctgctggaaggtcgcaggct	13	5	15	8	2	0	1	0	0	0	1	2	4	1	4	1	5	2	3	1	5	5	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:686377C>G	ENST00000304478.4	+	2	475	c.369C>G	c.(367-369)atC>atG	p.I123M		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	123					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AAGGGAAGATCCTGCTGGAAG	0.428													17	57					0	0	0	0	G	686377	C	G	686377	3	3	429	1	0	0	0	0	1	0	0	0	13592	845	30	2	375	2	RNMTL1	17	686377	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08		686377	80508833	655	84922											
SLC43A2	124935	broad.mit.edu	37	chr17	1478937	1478937	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggacgagccgttgattttGaggaagagtttgtcatcctc	8	14	12	7	2	1	3	1	2	0	1	3	6	2	5	2	2	1	2	2	2	1	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:1478937G>C	ENST00000571650.1	-	15	1989	c.1683C>G	c.(1681-1683)ctC>ctG	p.L561L	SLC43A2_ENST00000412517.3_Silent_p.L420L|SLC43A2_ENST00000301335.4_Silent_p.L557L|SLC43A2_ENST00000382147.4_Silent_p.L561L			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	557					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CGTTGATTTTGAGGAAGAGTT	0.622													16	22					0	0	0	0	C	1478937	G	C	1478937	2	2	429	1	0	0	0	0	0	0	0	1	14721	1277	45	2		2	SLC43A2	17	1478937	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	792560	1478937	79716273	656	84923											
OR1A1	8383	broad.mit.edu	37	chr17	3119395	3119395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgccctcccccacactCtgctcacagctagtctgtcc	7	9	5	20	0	3	0	1	0	2	0	5	0	5	0	5	0	3	2	5	0	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:3119395C>T	ENST00000304094.1	+	1	481	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L161M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCCCCACACTCTGCTCACAGC	0.502													36	60					0	0	0	0	T	3119395	C	T	3119395	2	4	429	1	0	0	0	0	0	0	0	1	11020	912	32	2		2	OR1A1	17	3119395	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1640458	3119395	78075815	657	84924											
ACADVL	37	broad.mit.edu	37	chr17	7123805	7123805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctctggacaagtcagattCccacccctctgacgctctga	8	9	9	15	1	4	3	1	2	3	1	5	4	5	4	3	2	0	2	3	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7123805C>T	ENST00000356839.5	+	3	340	c.161C>T	c.(160-162)tCc>tTc	p.S54F	ACADVL_ENST00000581562.1_3'UTR|ACADVL_ENST00000543245.2_Missense_Mutation_p.S77F|ACADVL_ENST00000350303.5_Intron	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	54	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AAGTCAGATTCCCACCCCTCT	0.597													26	57					0	0	0	0	T	7123805	C	T	7123805	3	4	429	1	0	0	0	0	1	0	0	0	116	855	30	2	171	2	ACADVL	17	7123805	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4004410	7123805	74071405	658	84925											
GABARAP	11337	broad.mit.edu	37	chr17	7144691	7144691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacccattgtggcactggtGggtggaatgacattgttgac	8	12	14	7	0	0	3	0	3	0	0	0	4	0	4	1	4	0	2	1	4	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7144691G>A	ENST00000302386.5	-	3	697	c.258C>T	c.(256-258)ccC>ccT	p.P86P	GABARAP_ENST00000573928.1_Silent_p.P86P|CTD-2545G14.7_ENST00000570760.2_3'UTR|GABARAP_ENST00000571129.1_5'UTR|GABARAP_ENST00000577035.1_5'UTR|GABARAP_ENST00000571253.1_5'UTR	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	86	Interaction with GPHN (By similarity).				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding	p.P86P(1)		breast(1)|lung(2)	3						TGGCACTGGTGGGTGGAATGA	0.483													141	324					0	0	0	0	A	7144691	G	A	7144691	2	1	429	1	0	0	0	0	0	0	0	1	6200	1335	47	4		4	GABARAP	17	7144691	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	20886	7144691	74050519	659	84926											
NEURL4	84461	broad.mit.edu	37	chr17	7222436	7222436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgtttgagggcacaggcaGaagcagggaagttgagcctc	10	6	15	10	1	0	3	0	2	0	1	1	4	0	4	2	3	2	5	2	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7222436G>A	ENST00000399464.2	-	22	3632	c.3617C>T	c.(3616-3618)tCt>tTt	p.S1206F	NEURL4_ENST00000570460.1_Missense_Mutation_p.S1182F|RP11-542C16.2_ENST00000575474.1_Silent_p.L20L|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1204F	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCACAGGCAGAAGCAGGGAA	0.597													21	46					0	0	0	0	A	7222436	G	A	7222436	3	1	429	1	0	0	0	0	1	0	0	0	10417	942	33	2	1103	2	NEURL4	17	7222436	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	77745	7222436	73972774	660	84927											
POLR2A	5430	broad.mit.edu	37	chr17	7417451	7417451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagccccacctacagtctCacaagcccggctatcagccc	10	5	6	20	1	2	0	2	0	1	0	3	0	2	0	6	1	4	1	6	1	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7417451C>T	ENST00000322644.6	+	29	6267	c.5868C>T	c.(5866-5868)ctC>ctT	p.L1956L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1956	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II 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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCTACAGTCTCACAAGCCCGG	0.662													6	50					0	0	0	0	T	7417451	C	T	7417451	2	4	429	1	0	0	0	0	0	0	0	1	12286	813	29	2		2	POLR2A	17	7417451	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	195015	7417451	73777759	661	84928											
POLR2A	5430	broad.mit.edu	37	chr17	7417466	7417466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctcacaagcccggctatCagcccggatgacagtgacga	11	6	11	13	3	2	2	2	2	1	0	3	4	2	3	2	2	2	1	2	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7417466C>T	ENST00000322644.6	+	29	6282	c.5883C>T	c.(5881-5883)atC>atT	p.I1961I		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1961					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II 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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCCCGGCTATCAGCCCGGATG	0.647													5	40					0	0	0	0	T	7417466	C	T	7417466	2	4	429	1	0	0	0	0	0	0	0	1	12286	816	29	2		2	POLR2A	17	7417466	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	15	7417466	73777744	662	84929											
PFAS	5198	broad.mit.edu	37	chr17	8158400	8158400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgtgccgcgccactGggctggggcctgtggatcgt	3	10	17	11	3	1	0	1	0	0	0	2	1	1	1	3	4	1	1	3	4	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:8158400G>C	ENST00000314666.6	+	4	467	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	112					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			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)	CCGCGCCACTGGGCTGGGGCC	0.602													21	51					0	0	0	0	C	8158400	G	C	8158400	3	2	429	1	0	0	0	0	1	0	0	0	11826	1348	47	4	344	4	PFAS	17	8158400	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	740934	8158400	73036810	663	84930											
RANGRF	29098	broad.mit.edu	37	chr17	8192666	8192666	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttggagaacctggccctGaggggccgctgtcaagaagc	9	7	15	10	1	1	3	1	1	0	2	1	4	1	3	3	4	2	2	3	4	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:8192666G>C	ENST00000439238.3	+	3	396	c.285G>C	c.(283-285)ctG>ctC	p.L95L	RANGRF_ENST00000226105.6_Silent_p.L95L|SLC25A35_ENST00000580340.1_3'UTR|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_3'UTR|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000407006.4_Silent_p.L95L|RANGRF_ENST00000580434.1_Silent_p.L95L			Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	95				ALR -> PE (in Ref. 3; AAF36156).	protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						ACCTGGCCCTGAGGGGCCGCT	0.582													16	43					0	0	0	0	C	8192666	G	C	8192666	2	2	429	1	0	0	0	0	0	0	0	1	13116	1277	45	2		2	RANGRF	17	8192666	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	34266	8192666	73002544	664	84931											
PIK3R5	23533	broad.mit.edu	37	chr17	8784012	8784012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaagggagcagagatCaggtgcggcctgggccggca	10	3	19	9	2	1	2	1	0	0	2	1	5	1	3	2	5	2	3	2	5	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:8784012C>A	ENST00000447110.1	-	19	2711	c.2587G>T	c.(2587-2589)Gat>Tat	p.D863Y	PIK3R5_ENST00000584803.1_Missense_Mutation_p.D862Y|PIK3R5_ENST00000581552.1_Missense_Mutation_p.D863Y	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	863					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAGCAGAGATCAGGTGCGGCC	0.632													16	26					1.52009e-12	1.57878e-12	1	0	A	8784012	C	A	8784012	3	1	429	1	0	0	0	0	1	0	0	0	11994	826	29	2	59	2	PIK3R5	17	8784012	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	591346	8784012	72411198	665	84932											
MYH2	4620	broad.mit.edu	37	chr17	10439886	10439886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctggaaagaagagcccttCttcttaccacctttcttggc	8	13	8	12	0	4	2	0	0	4	2	4	3	4	3	3	2	2	0	3	2	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:10439886C>G	ENST00000245503.5	-	17	2319	c.1935G>C	c.(1933-1935)aaG>aaC	p.K645N	MYH2_ENST00000397183.2_Missense_Mutation_p.K645N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.K645N|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	645	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGAGCCCTTCTTCTTACCAC	0.413													6	22					0	0	0	0	G	10439886	C	G	10439886	3	3	429	1	0	0	0	0	1	0	0	0	10105	912	32	2	3986	2	MYH2	17	10439886	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1655874	10439886	70755324	666	84933											
DNAH9	1770	broad.mit.edu	37	chr17	11593142	11593142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgtggaagccatggagttgGagtgcaaacagtttgcccgg	10	8	15	8	2	0	0	0	0	0	0	0	3	0	3	2	4	4	3	2	4	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:11593142G>A	ENST00000262442.3	+	20	4071	c.4003G>A	c.(4003-4005)Gag>Aag	p.E1335K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1335K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1335	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATGGAGTTGGAGTGCAAACA	0.562													9	8					0	0	0	0	A	11593142	G	A	11593142	3	1	429	1	0	0	0	0	1	0	0	0	4644	1175	41	2	4081	2	DNAH9	17	11593142	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1153256	11593142	69602068	667	84934											
ZNF287	57336	broad.mit.edu	37	chr17	16455379	16455379	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatgagttctctgatgttGattaagtgatgaggaataaa	14	14	11	2	0	1	5	0	5	1	0	2	6	1	6	0	1	0	3	0	1	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:16455379G>A	ENST00000395824.1	-	6	2694	c.2077C>T	c.(2077-2079)Caa>Taa	p.Q693*	ZNF287_ENST00000395825.3_Nonsense_Mutation_p.Q693*			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	686					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTCTGATGTTGATTAAGTGAT	0.363													24	46					0	0	0	0	A	16455379	G	A	16455379	4	1	429	1	0	0	0	0	0	1	0	0	17920	1299	45	2	212	2	ZNF287	17	16455379	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4862237	16455379	64739831	668	84935											
TOP3A	7156	broad.mit.edu	37	chr17	18217963	18217963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgatccccttggccgcgtCgtttttttcggccacacaga	5	11	11	14	5	0	1	0	0	0	1	3	2	1	1	4	3	0	1	4	3	0	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:18217963C>T	ENST00000321105.5	-	1	344	c.130G>A	c.(130-132)Gac>Aac	p.D44N	TOP3A_ENST00000542570.1_5'UTR|TOP3A_ENST00000582230.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	44	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGGCCGCGTCGTTTTTTTCG	0.652													8	32					0	0	0	0	T	18217963	C	T	18217963	3	4	429	1	0	0	0	0	1	0	0	0	16462	884	31	1	2951	1	TOP3A	17	18217963	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1762584	18217963	62977247	669	84936											
FAM83G	644815	broad.mit.edu	37	chr17	18907111	18907111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagaggggcccgtgccccGagggtcctcagagcccgggt	5	5	17	14	3	1	2	1	1	0	2	2	4	2	2	5	4	2	0	5	4	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:18907111G>A	ENST00000388995.6	-	2	467	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	FAM83G_ENST00000345041.4_Missense_Mutation_p.R82W|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R82W|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	82										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCGTGCCCCGAGGGTCCTCA	0.697													8	24					0	0	0	0	A	18907111	G	A	18907111	3	1	429	1	0	0	0	0	1	0	0	0	5685	1057	37	1	2247	1	FAM83G	17	18907111	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	689148	18907111	62288099	670	84937											
KSR1	8844	broad.mit.edu	37	chr17	25924388	25924388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggcgcccttcccgacatCatccaacccatccagcgcca	9	5	6	21	4	1	0	1	0	0	0	4	1	4	0	7	1	2	0	7	1	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:25924388C>T	ENST00000398988.3	+	11	1428	c.983C>T	c.(982-984)tCa>tTa	p.S328L	KSR1_ENST00000268763.6_Missense_Mutation_p.S328L|KSR1_ENST00000509603.2_Missense_Mutation_p.S465L|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000319524.6_Missense_Mutation_p.S465L	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	463					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTCCCGACATCATCCAACCCA	0.642													9	27					0	0	0	0	T	25924388	C	T	25924388	3	4	429	1	0	0	0	0	1	0	0	0	8634	838	29	2	1009	2	KSR1	17	25924388	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	7017277	25924388	55270822	671	84938											
TAOK1	57551	broad.mit.edu	37	chr17	27861163	27861163	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaagcacaggaagcaGagtgccaggttttgaagatg	13	8	15	5	0	0	4	0	2	0	2	0	6	0	6	1	3	3	3	1	3	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:27861163G>T	ENST00000261716.3	+	19	2908	c.2389G>T	c.(2389-2391)Gag>Tag	p.E797*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.E649*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	797					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAGGAAGCAGAGTGCCAGGT	0.433													8	25					1.76689e-08	1.81583e-08	1	0	T	27861163	G	T	27861163	4	4	429	1	0	0	0	0	0	1	0	0	15638	943	33	2	2459	2	TAOK1	17	27861163	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1936775	27861163	53334047	672	84939											
ATAD5	79915	broad.mit.edu	37	chr17	29162420	29162420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatgaagtaggaagagatGataattctaaaaaaatcatg	20	11	8	2	0	2	3	1	2	1	1	2	5	2	4	0	1	0	1	0	1	10	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:29162420G>A	ENST00000321990.4	+	2	1699	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	441					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAGAGATGATAATTCTAA	0.323													13	39					0	0	0	0	A	29162420	G	A	29162420	3	1	429	1	0	0	0	0	1	0	0	0	1080	1290	45	2	1327	2	ATAD5	17	29162420	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1301257	29162420	52032790	673	84940											
NF1	4763	broad.mit.edu	37	chr17	29559770	29559770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcagtgaagttgaagatGaaagtgcgcaaacaggtggc	14	7	14	6	1	0	4	0	3	0	1	0	4	0	4	0	2	3	3	0	2	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:29559770G>A	ENST00000358273.4	+	26	3750	c.3367G>A	c.(3367-3369)Gaa>Aaa	p.E1123K	NF1_ENST00000356175.3_Missense_Mutation_p.E1123K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1123					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.?(4)	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)		AGTTGAAGATGAAAGTGCGCA	0.433			"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)			28	42					0	0	0	0	A	29559770	G	A	29559770	3	1	429	1	0	0	0	0	1	0	0	0	10426	1291	45	2	3530	2	NF1	17	29559770	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	397350	29559770	51635440	674	84941											
TMEM98	26022	broad.mit.edu	37	chr17	31267910	31267910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtctctgtcggctgctGaggagcatttggaagtcctt	7	12	12	10	1	1	1	0	1	1	0	4	3	2	3	2	3	2	3	2	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:31267910G>A	ENST00000579849.1	+	8	1011	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.E194K	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	194						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GTCGGCTGCTGAGGAGCATTT	0.572													21	46					0	0	0	0	A	31267910	G	A	31267910	3	1	429	1	0	0	0	0	1	0	0	0	16319	1291	45	2	602	2	TMEM98	17	31267910	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1708140	31267910	49927300	675	84942											
LIG3	3980	broad.mit.edu	37	chr17	33318806	33318806	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccttctgcggctgtccaaGctcaccaaggaggatgagca	9	9	11	12	1	2	1	1	1	1	0	4	3	4	3	3	3	3	3	3	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:33318806G>A	ENST00000378526.4	+	6	1291	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K	LIG3_ENST00000262327.5_Silent_p.K386K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	386					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GGCTGTCCAAGCTCACCAAGG	0.552								Other BER factors					22	51					0	0	0	0	A	33318806	G	A	33318806	2	1	429	1	0	0	0	0	0	0	0	1	8836	962	34	4		4	LIG3	17	33318806	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2050896	33318806	47876404	676	84943											
AP2B1	163	broad.mit.edu	37	chr17	34050652	34050652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcctaacagctgtcactGaagtgtagagctcctgaagt	10	12	9	10	0	2	3	1	2	1	1	4	3	3	3	2	0	3	3	2	0	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:34050652G>A	ENST00000262325.7	+	21	3301	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	AP2B1_ENST00000538556.1_Silent_p.L859L|AP2B1_ENST00000537622.2_Silent_p.L930L|AP2B1_ENST00000592545.1_Silent_p.L892L|AP2B1_ENST00000589344.1_Silent_p.L930L|AP2B1_ENST00000312678.8_Silent_p.L930L|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	916	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTGTCACTGAAGTGTAGAG	0.423													15	34					0	0	0	0	A	34050652	G	A	34050652	2	1	429	1	0	0	0	0	0	0	0	1	742	1277	45	2		2	AP2B1	17	34050652	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	731846	34050652	47144558	677	84944											
CACNB1	782	broad.mit.edu	37	chr17	37343170	37343170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccgcccgatccaccagtCattattgtatttctgcaaag	10	11	7	13	2	2	0	1	0	1	0	3	1	3	0	4	0	2	2	4	0	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:37343170C>T	ENST00000394303.3	-	5	634	c.427G>A	c.(427-429)Gac>Aac	p.D143N	CACNB1_ENST00000344140.5_Missense_Mutation_p.D143N|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.D143N	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	143	SH3.				axon guidance	voltage-gated calcium channel complex				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)	ATCCACCAGTCATTATTGTAT	0.552													22	34					0	0	0	0	T	37343170	C	T	37343170	3	4	429	1	0	0	0	0	1	0	0	0	2577	826	29	2	1673	2	CACNB1	17	37343170	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3292518	37343170	43852040	678	84945											
THRA	7067	broad.mit.edu	37	chr17	38240145	38240145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctattcctgcaaatatGacagctgctgtgtcattgac	10	12	7	12	0	1	2	1	2	0	0	2	2	2	2	3	0	3	3	3	0	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:38240145G>A	ENST00000450525.2	+	5	771	c.280G>A	c.(280-282)Gac>Aac	p.D94N	THRA_ENST00000546243.1_Missense_Mutation_p.D94N|THRA_ENST00000264637.4_Missense_Mutation_p.D94N|THRA_ENST00000394121.4_Missense_Mutation_p.D94N|THRA_ENST00000584985.1_Missense_Mutation_p.D94N	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	94					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CTGCAAATATGACAGCTGCTG	0.562													43	73					0	0	0	0	A	38240145	G	A	38240145	3	1	429	1	0	0	0	0	1	0	0	0	15967	1290	45	2	294	2	THRA	17	38240145	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	896975	38240145	42955065	679	84946											
IFI35	3430	broad.mit.edu	37	chr17	41165074	41165074	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacttccaggtcccattttCagtgcccaagatccccctgg	7	11	7	16	0	1	1	1	0	0	1	4	1	4	1	5	2	2	0	5	2	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:41165074C>G	ENST00000415816.2	+	3	354	c.131C>G	c.(130-132)tCa>tGa	p.S44*	IFI35_ENST00000438323.2_Nonsense_Mutation_p.S44*	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	44					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GTCCCATTTTCAGTGCCCAAG	0.552													24	167					0	0	0	0	G	41165074	C	G	41165074	4	3	429	1	0	0	0	0	0	1	0	0	7569	838	29	2	141	2	IFI35	17	41165074	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2924929	41165074	40030136	680	84947											
UBTF	7343	broad.mit.edu	37	chr17	42287534	42287534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgccttcttaatccacatCagtttctccttcttttccat	6	18	3	14	0	4	0	1	0	3	0	7	0	6	0	4	0	1	2	4	0	1	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:42287534C>T	ENST00000302904.4	-	15	2076	c.1584G>A	c.(1582-1584)ctG>ctA	p.L528L	UBTF_ENST00000527034.1_Silent_p.L491L|UBTF_ENST00000343638.5_Silent_p.L491L|UBTF_ENST00000526094.1_Silent_p.L491L|UBTF_ENST00000436088.1_Silent_p.L528L|UBTF_ENST00000529383.1_Silent_p.L528L|UBTF_ENST00000533177.1_Silent_p.L491L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Silent_p.L491L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	528					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAATCCACATCAGTTTCTCCT	0.507											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	141					0	0	0	0	T	42287534	C	T	42287534	2	4	429	1	0	0	0	0	0	0	0	1	17005	813	29	2		2	UBTF	17	42287534	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1122460	42287534	38907676	681	84948											
GPATCH8	23131	broad.mit.edu	37	chr17	42477256	42477256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagggggttctggtttgggtCctcgttcagaatctgctggg	4	13	16	8	1	3	1	1	0	2	1	5	1	4	1	1	5	1	4	1	5	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:42477256C>G	ENST00000434000.1	-	9	2237	c.1955G>C	c.(1954-1956)gGa>gCa	p.G652A	GPATCH8_ENST00000591680.1_Missense_Mutation_p.G730A			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	730						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGTTTGGGTCCTCGTTCAGA	0.532													19	66					0	0	0	0	G	42477256	C	G	42477256	3	3	429	1	0	0	0	0	1	0	0	0	6643	855	30	2	2323	2	GPATCH8	17	42477256	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	189722	42477256	38717954	682	84949											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531395	43531395	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctcagcttcgtcctgggagGaggcgcgcagggccagcttc	5	7	15	14	3	1	0	1	0	0	0	4	2	2	2	3	4	2	3	3	4	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:43531395G>C	ENST00000430334.3	-	7	1956	c.1823C>G	c.(1822-1824)tCc>tGc	p.S608C	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S519C	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	608	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GTCCTGGGAGGAGGCGCGCAG	0.642													22	54					0	0	0	0	C	43531395	G	C	43531395	3	2	429	1	0	0	0	0	1	0	0	0	12152	1174	41	2	1371	2	PLEKHM1	17	43531395	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1054139	43531395	37663815	683	84950											
ITGA3	3675	broad.mit.edu	37	chr17	48154040	48154040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagcagcagcagaagctGagcaggtggctgtgggccgc	9	5	17	10	1	1	3	1	1	0	2	1	3	1	3	1	3	5	6	1	3	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:48154040G>A	ENST00000320031.8	+	14	2247	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Silent_p.L639L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	639					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AGCAGAAGCTGAGCAGGTGGC	0.657													12	37					0	0	0	0	A	48154040	G	A	48154040	2	1	429	1	0	0	0	0	0	0	0	1	7930	1277	45	2		2	ITGA3	17	48154040	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4622645	48154040	33041170	684	84951											
MBTD1	54799	broad.mit.edu	37	chr17	49272689	49272689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgctgcttctgagccatCgatcccaatcatcaggaatc	9	11	8	13	1	4	1	2	1	2	0	7	3	5	2	2	1	3	2	2	1	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:49272689C>T	ENST00000586178.1	-	13	1601	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	MBTD1_ENST00000376381.2_Intron|MBTD1_ENST00000415868.1_Missense_Mutation_p.D420N	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	420					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TCTGAGCCATCGATCCCAATC	0.388													20	51					0	0	0	0	T	49272689	C	T	49272689	3	4	429	1	0	0	0	0	1	0	0	0	9429	884	31	1	648	1	MBTD1	17	49272689	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1118649	49272689	31922521	685	84952											
BZRAP1	9256	broad.mit.edu	37	chr17	56386091	56386091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcaggagctggtgatgctGatgcccccgctgcccgcctc	5	8	13	15	2	0	2	0	2	0	0	1	3	0	3	4	2	5	4	4	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:56386091G>C	ENST00000355701.3	-	22	5412	c.4542C>G	c.(4540-4542)atC>atG	p.I1514M	BZRAP1_ENST00000343736.4_Missense_Mutation_p.I1514M|BZRAP1_ENST00000268893.6_Missense_Mutation_p.I1454M	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1514						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTGATGCTGATGCCCCCGC	0.632													14	27					0	0	0	0	C	56386091	G	C	56386091	3	2	429	1	0	0	0	0	1	0	0	0	1586	1280	45	2	1071	2	BZRAP1	17	56386091	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	7113402	56386091	24809119	686	84953											
PRR11	55771	broad.mit.edu	37	chr17	57270939	57270939	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtgcctgcctgcgttctGatcacccctggagactccaa	8	10	9	14	1	2	2	1	1	1	1	3	3	3	2	5	1	3	1	5	1	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:57270939G>C	ENST00000262293.4	+	5	801	c.489G>C	c.(487-489)ctG>ctC	p.L163L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	163										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCTGCGTTCTGATCACCCCTG	0.532													27	59					0	0	0	0	C	57270939	G	C	57270939	2	2	429	1	0	0	0	0	0	0	0	1	12663	1277	45	2		2	PRR11	17	57270939	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	884848	57270939	23924271	687	84954											
RPS6KB1	6198	broad.mit.edu	37	chr17	58013615	58013615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttctcgtctgggagctggtCctggggacgctggagaagtt	5	11	16	9	2	2	1	0	0	2	1	4	4	3	3	1	5	1	3	1	5	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:58013615C>G	ENST00000225577.4	+	11	1039	c.1018C>G	c.(1018-1020)Cct>Gct	p.P340A	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P317A|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.P340A|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P287A	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	340	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GGGAGCTGGTCCTGGGGACGC	0.398													38	54					0	0	0	0	G	58013615	C	G	58013615	3	3	429	1	0	0	0	0	1	0	0	0	13741	855	30	2	1060	2	RPS6KB1	17	58013615	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	742676	58013615	23181595	688	84955											
RNFT1	51136	broad.mit.edu	37	chr17	58031444	58031444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcttctgaaattcagcttGacatattgaacaaatatcat	14	14	6	7	0	3	3	2	3	1	0	3	3	3	3	0	1	2	2	0	1	5	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:58031444G>C	ENST00000305783.8	-	8	1190	c.1135C>G	c.(1135-1137)Caa>Gaa	p.Q379E	RNFT1_ENST00000442346.2_3'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	379						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			AATTCAGCTTGACATATTGAA	0.338													10	27					0	0	0	0	C	58031444	G	C	58031444	3	2	429	1	0	0	0	0	1	0	0	0	13586	1299	45	2	180	2	RNFT1	17	58031444	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	17829	58031444	23163766	689	84956											
APPBP2	10513	broad.mit.edu	37	chr17	58577812	58577812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttccaattcacaaaattCactgcccagttgacataagc	15	10	4	12	0	2	1	2	1	0	0	3	1	3	1	2	0	3	1	2	0	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:58577812C>T	ENST00000083182.3	-	2	462	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	59					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			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)			TCACAAAATTCACTGCCCAGT	0.249													11	27					0	0	0	0	T	58577812	C	T	58577812	3	4	429	1	0	0	0	0	1	0	0	0	818	835	29	2	1630	2	APPBP2	17	58577812	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	546368	58577812	22617398	690	84957											
BCAS3	54828	broad.mit.edu	37	chr17	58988027	58988027	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggtcccaggcatcatCacagttattgacaccgaaac	11	10	7	13	1	2	1	2	1	0	0	3	2	3	1	3	2	1	2	3	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:58988027C>A	ENST00000589222.1	+	12	1025	c.957C>A	c.(955-957)atC>atA	p.I319I	BCAS3_ENST00000407086.3_Silent_p.I319I|BCAS3_ENST00000390652.5_Silent_p.I319I|BCAS3_ENST00000588874.1_Silent_p.I90I|BCAS3_ENST00000588462.1_Silent_p.I319I|BCAS3_ENST00000585744.1_Silent_p.I90I|BCAS3_ENST00000408905.3_Silent_p.I319I			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	319						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAGGCATCATCACAGTTATTG	0.493													4	115					1.23904e-05	1.25893e-05	1	0	A	58988027	C	A	58988027	2	1	429	1	0	0	0	0	0	0	0	1	1356	816	29	2		2	BCAS3	17	58988027	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	410215	58988027	22207183	691	84958											
INTS2	57508	broad.mit.edu	37	chr17	59989349	59989349	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggattcattttacacaaGaagcgtaaggcatctgtcct	13	11	9	8	1	2	1	1	0	1	1	3	3	3	2	1	2	2	2	1	2	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:59989349G>C	ENST00000444766.3	-	6	831	c.756C>G	c.(754-756)ttC>ttG	p.F252L	INTS2_ENST00000251334.6_Missense_Mutation_p.F244L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	252					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			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						TTTTACACAAGAAGCGTAAGG	0.433													61	98					0	0	0	0	C	59989349	G	C	59989349	3	2	429	1	0	0	0	0	1	0	0	0	7831	933	33	2	2938	2	INTS2	17	59989349	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1001322	59989349	21205861	692	84959											
TLK2	11011	broad.mit.edu	37	chr17	60683575	60683575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtggtcggtgggtgtgatCttctatcagtgtctttatgg	4	17	15	5	1	4	1	1	1	3	0	5	1	4	1	0	4	0	0	0	4	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:60683575C>G	ENST00000582809.1	+	21	2200	c.1497C>G	c.(1495-1497)atC>atG	p.I499M	TLK2_ENST00000326270.9_Missense_Mutation_p.I670M|TLK2_ENST00000346027.5_Missense_Mutation_p.I648M|TLK2_ENST00000343388.7_Missense_Mutation_p.I616M|TLK2_ENST00000542523.1_Missense_Mutation_p.I616M			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	670	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TGGGTGTGATCTTCTATCAGT	0.433													7	23					0	0	0	0	G	60683575	C	G	60683575	3	3	429	1	0	0	0	0	1	0	0	0	16038	903	32	2	2018	2	TLK2	17	60683575	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	694226	60683575	20511635	693	84960											
MAP3K3	4215	broad.mit.edu	37	chr17	61762899	61762899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggatcccctgagcagtgCagaaaattccttgtctggaa	10	10	11	10	0	1	2	0	1	1	1	3	4	3	4	3	2	2	3	3	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:61762899C>T	ENST00000361357.3	+	9	1070	c.752C>T	c.(751-753)gCa>gTa	p.A251V	MAP3K3_ENST00000361733.3_Missense_Mutation_p.A220V|MAP3K3_ENST00000579585.1_Missense_Mutation_p.A251V|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A220V|MAP3K3_ENST00000584573.1_Missense_Mutation_p.A251V	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	220					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGAGCAGTGCAGAAAATTCC	0.532													16	50					0	0	0	0	T	61762899	C	T	61762899	3	4	429	1	0	0	0	0	1	0	0	0	9320	710	25	4	786	4	MAP3K3	17	61762899	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1079324	61762899	19432311	694	84961											
FTSJ3	117246	broad.mit.edu	37	chr17	61902704	61902704	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagatccatagcagaggctGatagtcacgagaacggaaaa	18	5	11	7	2	1	4	1	1	0	3	2	6	2	5	1	2	2	2	1	2	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:61902704G>A	ENST00000427159.2	-	7	1138	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	165					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCAGAGGCTGATAGTCACGA	0.527													36	60					0	0	0	0	A	61902704	G	A	61902704	4	1	429	1	0	0	0	0	0	1	0	0	6137	1299	45	2	2110	2	FTSJ3	17	61902704	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	139805	61902704	19292506	695	84962											
SCN4A	6329	broad.mit.edu	37	chr17	62025372	62025372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaccttgtcggcatattCtaggatggtgcgaatgactc	10	11	12	8	2	1	2	0	1	1	1	3	5	1	3	1	3	1	1	1	3	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:62025372C>G	ENST00000435607.1	-	17	3272	c.3196G>C	c.(3196-3198)Gaa>Caa	p.E1066Q	SCN4A_ENST00000578147.1_Missense_Mutation_p.E1066Q	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1066					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCGGCATATTCTAGGATGGTG	0.572													25	35					0	0	0	0	G	62025372	C	G	62025372	3	3	429	1	0	0	0	0	1	0	0	0	14007	922	32	2	2346	2	SCN4A	17	62025372	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	122668	62025372	19169838	696	84963											
HELZ	9931	broad.mit.edu	37	chr17	65105258	65105258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcccctataggtaatcccGaggggttctcatcaatgaag	10	10	9	12	1	2	1	2	1	1	0	5	2	4	1	4	3	0	2	4	3	5	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:65105258G>A	ENST00000358691.5	-	29	4629	c.4463C>T	c.(4462-4464)tCg>tTg	p.S1488L	HELZ_ENST00000580168.1_Missense_Mutation_p.S1489L	NM_014877.3	NP_055692.2			helicase with zinc finger									p.S1488L(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGTAATCCCGAGGGGTTCTC	0.448													22	45					0	0	0	0	A	65105258	G	A	65105258	3	1	429	1	0	0	0	0	1	0	0	0	7099	1059	37	1	1385	1	HELZ	17	65105258	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3079886	65105258	16089952	697	84964											
ABCA10	10349	broad.mit.edu	37	chr17	67181702	67181702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atacatactgggtgaaaactCccaacaatgagtttcacgag	15	9	8	9	1	1	2	1	2	0	0	2	3	2	2	1	1	4	1	1	1	6	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:67181702C>T	ENST00000269081.4	-	21	3322	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	805					transport	integral to membrane	ATP binding|ATPase activity	p.E805*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTGAAAACTCCCAACAATGA	0.373													18	34					0	0	0	0	T	67181702	C	T	67181702	3	4	429	1	0	0	0	0	1	0	0	0	29	864	30	2	2298	2	ABCA10	17	67181702	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2076444	67181702	14013508	698	84965											
NAT9	26151	broad.mit.edu	37	chr17	72768370	72768370	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcttaccgtaagacagcatCgcgagaacggcctcagtgcc	10	8	10	13	4	2	2	1	0	1	2	3	3	2	2	3	1	4	2	3	1	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:72768370C>G	ENST00000357814.3	-	5	454	c.381G>C	c.(379-381)gcG>gcC	p.A127A	NAT9_ENST00000582524.1_Silent_p.A127A|NAT9_ENST00000580632.1_Intron|NAT9_ENST00000578822.1_Silent_p.A132A|NAT9_ENST00000583757.1_Silent_p.A126A|NAT9_ENST00000581136.1_Silent_p.A127A|NAT9_ENST00000583476.1_Silent_p.A127A|NAT9_ENST00000580301.1_Silent_p.A126A|NAT9_ENST00000582870.1_Silent_p.A131A	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	127	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AAGACAGCATCGCGAGAACGG	0.617													14	28					0	0	0	0	G	72768370	C	G	72768370	2	3	429	1	0	0	0	0	0	0	0	1	10252	871	31	3		3	NAT9	17	72768370	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5586668	72768370	8426840	699	84966											
ATP5H	10476	broad.mit.edu	37	chr17	73038632	73038632	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacatactgacctggaggtGagggtctcattccaggattt	11	11	11	8	0	1	2	1	2	1	0	3	4	2	4	2	4	2	0	2	4	2	3	rs139761287		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:73038632G>C	ENST00000301587.4	-	2	161	c.114C>G	c.(112-114)ctC>ctG	p.L38L	KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_Silent_p.L38L|KCTD2_ENST00000581589.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	38					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					ACCTGGAGGTGAGGGTCTCAT	0.428													42	132					0	0	0	0	C	73038632	G	C	73038632	2	2	429	1	0	0	0	0	0	0	0	1	1160	1277	45	2		2	ATP5H	17	73038632	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	270262	73038632	8156578	700	84967											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74564815	74564815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctgtcaggtagctgatGaagtccggatgtagcagctt	8	13	12	8	1	2	2	1	2	1	0	3	3	3	3	1	2	3	5	1	2	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:74564815G>A	ENST00000225276.5	-	7	1156	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	279					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGTAGCTGATGAAGTCCGGAT	0.562													13	50					0	0	0	0	A	74564815	G	A	74564815	2	1	429	1	0	0	0	0	0	0	0	1	15314	1281	45	2		2	ST6GALNAC2	17	74564815	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1526183	74564815	6630395	701	84968											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74564832	74564832	+	Missense_Mutation	SNP	G	G	C																															gatgaagtccggatgtagcaGcttgaatttactggcagagg																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:74564832G>C	ENST00000225276.5	-	7	1139	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	274					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGATGTAGCAGCTTGAATTTA	0.557													11	53					0	0	0	0	C	74564832	G	C	74564832	3	2	429	1	0	0	0	0	1	0	0	0	15314	962	34	4	316	4	ST6GALNAC2	17	74564832	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	17	74564832	6630378	702	84969	1065	2									
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74564836	74564836	+	Silent	SNP	G	G	A																															aagtccggatgtagcagcttGaatttactggcagaggcttc																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:74564836G>A	ENST00000225276.5	-	7	1135	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	272					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGCAGCTTGAATTTACTGG	0.557													7	52					0	0	0	0	A	74564836	G	A	74564836	2	1	429	1	0	0	0	0	0	0	0	1	15314	1281	45	2		2	ST6GALNAC2	17	74564836	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4	74564836	6630374	703	84970	1065	2									
MGAT5B	146664	broad.mit.edu	37	chr17	74902123	74902123	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtccacatcggcttcctGacggaggagtccggggacgt	6	8	15	12	4	0	1	0	1	0	0	4	4	3	4	3	6	0	1	3	6	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:74902123G>C	ENST00000569840.2	+	8	1453	c.879G>C	c.(877-879)ctG>ctC	p.L293L	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Silent_p.L293L|MGAT5B_ENST00000428789.2_Silent_p.L304L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	293						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGGCTTCCTGACGGAGGAGT	0.677													12	56					0	0	0	0	C	74902123	G	C	74902123	2	2	429	1	0	0	0	0	0	0	0	1	9618	1277	45	2		2	MGAT5B	17	74902123	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	337287	74902123	6293087	704	84971											
ENGASE	64772	broad.mit.edu	37	chr17	77078228	77078228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggaccttccattcccgtCtgcacctcaaaggaatgaca	11	9	7	14	1	2	1	1	1	1	0	4	3	4	3	4	2	1	1	4	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:77078228C>T	ENST00000539857.2	+	6	978	c.563C>T	c.(562-564)tCt>tTt	p.S188F	ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	0						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCATTCCCGTCTGCACCTCAA	0.597													18	17					0	0	0	0	T	77078228	C	T	77078228	3	4	429	1	0	0	0	0	1	0	0	0	5156	928	32	2		2	ENGASE	17	77078228	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2176105	77078228	4116982	705	84972											
TBC1D16	125058	broad.mit.edu	37	chr17	77915904	77915904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcatggccaggtttccGaagtgcaggagcatctggtc	8	10	14	9	1	1	0	0	0	1	0	3	2	2	1	2	4	3	4	2	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:77915904G>T	ENST00000310924.2	-	11	2125	c.2010C>A	c.(2008-2010)ttC>ttA	p.F670L	TBC1D16_ENST00000576768.1_Missense_Mutation_p.F295L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.F308L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	670						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCAGGTTTCCGAAGTGCAGGA	0.647													5	12					0.00116845	0.0011783	1	0	T	77915904	G	T	77915904	3	4	429	1	0	0	0	0	1	0	0	0	15696	1049	37	3	301	3	TBC1D16	17	77915904	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	837676	77915904	3279306	706	84973											
RNF213	57674	broad.mit.edu	37	chr17	78357725	78357725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctggcatttcctgcaGaaggtatgtctggcttactg	7	14	10	10	0	2	1	0	0	2	1	4	1	4	1	2	3	2	4	2	3	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:78357725G>A	ENST00000582970.1	+	59	14462	c.14319G>A	c.(14317-14319)caG>caA	p.Q4773Q	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.Q2846Q|RNF213_ENST00000508628.2_Silent_p.Q4822Q|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			ATTTCCTGCAGAAGGTATGTC	0.483													30	105					0	0	0	0	A	78357725	G	A	78357725	2	1	429	1	0	0	0	0	0	0	0	1	13562	933	33	2		2	RNF213	17	78357725	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	441821	78357725	2837485	707	84974											
CCDC137	339230	broad.mit.edu	37	chr17	79637270	79637270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcccaggtgaccttcaGaaagacattggagaaggaag	14	6	12	9	0	2	4	2	1	0	3	2	6	2	5	2	3	1	0	2	3	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:79637270G>A	ENST00000329214.8	+	3	687	c.284G>A	c.(283-285)aGa>aAa	p.R95K		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	95										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGACCTTCAGAAAGACATTG	0.587													7	18					0	0	0	0	A	79637270	G	A	79637270	3	1	429	1	0	0	0	0	1	0	0	0	2796	942	33	2	294	2	CCDC137	17	79637270	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1279545	79637270	1557940	708	84975											
CCDC137	339230	broad.mit.edu	37	chr17	79637313	79637313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggagaggagcccgacatCgcagtccccaagttcaaaca	14	4	11	12	2	1	1	1	0	0	1	3	4	2	2	3	2	2	2	3	2	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:79637313C>T	ENST00000329214.8	+	3	730	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	109										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGCCCGACATCGCAGTCCCCA	0.577													14	16					0	0	0	0	T	79637313	C	T	79637313	2	4	429	1	0	0	0	0	0	0	0	1	2796	874	31	1		1	CCDC137	17	79637313	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	43	79637313	1557897	709	84976											
GPS1	2873	broad.mit.edu	37	chr17	80014847	80014847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccgcaaccagatccatgtCaaggtgggctggcttgaggg	8	8	14	11	1	1	2	1	1	0	1	3	2	3	2	3	4	1	3	3	4	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:80014847C>T	ENST00000392358.2	+	12	1855	c.1506C>T	c.(1504-1506)gtC>gtT	p.V502V	GPS1_ENST00000578552.1_Silent_p.V462V|GPS1_ENST00000306823.6_Silent_p.V466V|GPS1_ENST00000355130.2_Silent_p.V502V|GPS1_ENST00000320548.4_Silent_p.V446V	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	466					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGATCCATGTCAAGGTGGGCT	0.652													30	43					0	0	0	0	T	80014847	C	T	80014847	2	4	429	1	0	0	0	0	0	0	0	1	6782	813	29	2		2	GPS1	17	80014847	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	377534	80014847	1180363	710	84977											
CCDC57	284001	broad.mit.edu	37	chr17	80129712	80129712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagttcgtatttctgcttCaagggccagaacataatctg	11	13	9	8	1	3	2	1	0	2	2	4	2	3	2	1	1	2	3	1	1	5	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:80129712C>T	ENST00000392347.1	-	12	1783	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	CCDC57_ENST00000389641.4_Missense_Mutation_p.E583K|CCDC57_ENST00000392343.3_Missense_Mutation_p.E583K|CCDC57_ENST00000327026.3_5'UTR	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	583										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ATTTCTGCTTCAAGGGCCAGA	0.443													32	81					0	0	0	0	T	80129712	C	T	80129712	3	4	429	1	0	0	0	0	1	0	0	0	2854	835	29	2	1024	2	CCDC57	17	80129712	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	114865	80129712	1065498	711	84978											
ZNF750	79755	broad.mit.edu	37	chr17	80790115	80790116	+	Frame_Shift_Ins	INS	-	-	TC																															gctggttggtttgcttggggINStctagtgagttagatttagg																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:80790115_80790116insTC	ENST00000269394.3	-	2	1048_1049	c.215_216insGA	c.(214-216)gccfs	p.A72fs	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	72						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTTGCTTGGGGTCTAGTGAGTT	0.475													58	39	---	---	---	---					TC	80790116	-	TC	80790115	7	5	429	1	0	1	1	0	0	0	0	0	18226	1252	44	0	1963	0	ZNF750	17	80790115	Frame_Shift_Ins	INS	-	TCGA-HL-7533-01A-11D-2229-08	660403	80790115	405095	712	84979											
ZNF750	79755	broad.mit.edu	37	chr17	80790149	80790149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttagggcacttgggaactCgatcctgctctgatactaaa	11	12	9	9	1	1	1	0	1	1	0	3	3	2	2	1	2	3	2	1	2	5	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:80790149C>T	ENST00000269394.3	-	2	1015	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	61						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTTGGGAACTCGATCCTGCTC	0.448													28	63					0	0	0	0	T	80790149	C	T	80790149	3	4	429	1	0	0	0	0	1	0	0	0	18226	884	31	1	1997	1	ZNF750	17	80790149	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	34	80790149	405061	713	84980											
COLEC12	81035	broad.mit.edu	37	chr18	357515	357515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtacattgtgttccttcCtgaatacctgtaagagaagt	10	15	9	7	0	0	2	0	1	0	1	2	3	2	2	3	1	2	3	3	1	5	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:357515C>T	ENST00000400256.3	-	3	273	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	22				Q -> H (in Ref. 1; BAB39148).	carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTGTTCCTTCCTGAATACCTG	0.303													13	31					0	0	0	0	T	357515	C	T	357515	2	4	429	1	0	0	0	0	0	0	0	1	3742	680	24	4		4	COLEC12	18	357515	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08		357515	77719733	714	84981											
TYMS	7298	broad.mit.edu	37	chr18	662243	662243	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcctgggattctccaccaGagaagaaggggacttgggcc	10	6	14	11	0	1	2	0	0	1	2	2	5	1	4	4	4	1	0	4	4	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:662243G>C	ENST00000323274.10	+	3	516	c.377G>C	c.(376-378)aGa>aCa	p.R126T	TYMS_ENST00000323224.7_Missense_Mutation_p.R126T|TYMS_ENST00000323250.5_Intron	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	126					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	TTCTCCACCAGAGAAGAAGGG	0.493													144	317					0	0	0	0	C	662243	G	C	662243	3	2	429	1	0	0	0	0	1	0	0	0	16908	942	33	2	387	2	TYMS	18	662243	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	304728	662243	77415005	715	84982											
LAMA1	284217	broad.mit.edu	37	chr18	6943353	6943353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtggcggttttgggctCatatgcagctgttatcctgc	6	13	12	10	1	1	0	1	0	0	0	2	0	2	0	1	3	3	5	1	3	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6943353C>T	ENST00000389658.3	-	62	8986	c.8893G>A	c.(8893-8895)Gag>Aag	p.E2965K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2965	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTTGGGCTCATATGCAGCT	0.438													23	50					0	0	0	0	T	6943353	C	T	6943353	3	4	429	1	0	0	0	0	1	0	0	0	8658	835	29	2	342	2	LAMA1	18	6943353	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6281110	6943353	71133895	716	84983											
LAMA1	284217	broad.mit.edu	37	chr18	6975007	6975007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggaaggccactctccctCgccgcatctccactgcaagg	9	6	9	17	2	2	0	0	0	2	0	5	1	2	1	4	3	1	2	4	3	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6975007C>T	ENST00000389658.3	-	46	6611	c.6518G>A	c.(6517-6519)cGa>cAa	p.R2173Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2173	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTCTCCCTCGCCGCATCTC	0.542													12	23					0	0	0	0	T	6975007	C	T	6975007	3	4	429	1	0	0	0	0	1	0	0	0	8658	884	31	1	2781	1	LAMA1	18	6975007	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	31654	6975007	71102241	717	84984											
LAMA1	284217	broad.mit.edu	37	chr18	6978282	6978282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagatgtgttcagcagctCctggctcagccccgccacgt	6	8	12	15	2	2	1	2	0	0	1	3	1	3	1	4	2	3	5	4	2	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6978282C>T	ENST00000389658.3	-	43	6196	c.6103G>A	c.(6103-6105)Gag>Aag	p.E2035K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2035	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCAGCAGCTCCTGGCTCAGC	0.587													20	55					0	0	0	0	T	6978282	C	T	6978282	3	4	429	1	0	0	0	0	1	0	0	0	8658	864	30	2	3208	2	LAMA1	18	6978282	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3275	6978282	71098966	718	84985											
LAMA1	284217	broad.mit.edu	37	chr18	6978307	6978307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagccccgccacgtccctCagcgtgctcaccgcgctctg	4	7	9	21	5	4	0	3	0	1	0	5	0	5	0	5	0	3	2	5	0	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6978307C>T	ENST00000389658.3	-	43	6171	c.6078G>A	c.(6076-6078)ctG>ctA	p.L2026L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2026	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACGTCCCTCAGCGTGCTCA	0.537													19	51					0	0	0	0	T	6978307	C	T	6978307	2	4	429	1	0	0	0	0	0	0	0	1	8658	813	29	2		2	LAMA1	18	6978307	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	25	6978307	71098941	719	84986											
LAMA1	284217	broad.mit.edu	37	chr18	6992681	6992681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgggtagtaggaaatcttCatccaaagtctgatttaaag	14	13	9	5	0	3	1	1	1	2	0	4	2	4	2	1	2	0	2	1	2	6	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6992681C>T	ENST00000389658.3	-	36	5140	c.5047G>A	c.(5047-5049)Gaa>Aaa	p.E1683K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1683	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAAATCTTCATCCAAAGTC	0.353													22	44					0	0	0	0	T	6992681	C	T	6992681	3	4	429	1	0	0	0	0	1	0	0	0	8658	835	29	2	4292	2	LAMA1	18	6992681	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	14374	6992681	71084567	720	84987											
RALBP1	10928	broad.mit.edu	37	chr18	9535686	9535686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagataaagaacaatcatttGaatcaagcaattcatgagga	20	9	7	5	0	3	4	3	2	0	2	3	5	3	5	0	1	2	1	0	1	8	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:9535686G>C	ENST00000019317.4	+	10	1942	c.1719G>C	c.(1717-1719)ttG>ttC	p.L573F	RALBP1_ENST00000383432.3_Missense_Mutation_p.L573F			Q15311	RBP1_HUMAN	ralA binding protein 1	573					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						ACAATCATTTGAATCAAGCAA	0.552													6	16					0	0	0	0	C	9535686	G	C	9535686	3	2	429	1	0	0	0	0	1	0	0	0	13094	1281	45	2	1753	2	RALBP1	18	9535686	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2543005	9535686	68541562	721	84988											
IMPA2	3613	broad.mit.edu	37	chr18	12028068	12028068	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggccttggttctgacaGaaattggccccaaacgtgac	12	8	10	11	1	1	3	0	2	1	1	1	3	1	3	3	3	1	1	3	3	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:12028068G>T	ENST00000269159.3	+	6	759	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	173					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GGTTCTGACAGAAATTGGCCC	0.498													19	59					2.94398e-08	3.01688e-08	1	0	T	12028068	G	T	12028068	4	4	429	1	0	0	0	0	0	1	0	0	7776	943	33	2	539	2	IMPA2	18	12028068	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2492382	12028068	66049180	722	84989											
ROCK1	6093	broad.mit.edu	37	chr18	18588119	18588119	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttctccttctcaatctGagacactgtagattctagat	10	16	5	10	0	4	3	1	1	4	3	6	4	4	3	1	0	0	1	1	0	3	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:18588119G>A	ENST00000399799.1	-	14	2387	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	483	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.Q483E(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTCAATCTGAGACACTGTA	0.333													5	20					0	0	0	0	A	18588119	G	A	18588119	4	1	429	1	0	0	0	0	0	1	0	0	13602	1299	45	2	2697	2	ROCK1	18	18588119	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6560051	18588119	59489129	723	84990											
OSBPL1A	114876	broad.mit.edu	37	chr18	21805078	21805078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcggacattctgtgttttCtactgcccaaatgctctcct	6	16	6	13	1	3	0	0	0	3	0	5	1	3	1	2	1	3	2	2	1	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:21805078C>G	ENST00000319481.3	-	17	1735	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R128T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	510					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCTGTGTTTTCTACTGCCCAA	0.507													25	71					0	0	0	0	G	21805078	C	G	21805078	3	3	429	1	0	0	0	0	1	0	0	0	11348	913	32	2	1371	2	OSBPL1A	18	21805078	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	3216959	21805078	56272170	724	84991											
DSG1	1828	broad.mit.edu	37	chr18	28909991	28909991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacaaatagaagaaaattCtaatgcaagtaagtaatgta	21	9	8	3	0	1	2	0	0	1	2	1	3	1	3	0	1	1	4	0	1	10	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:28909991C>G	ENST00000257192.4	+	5	721	c.509C>G	c.(508-510)tCt>tGt	p.S170C		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	170	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAGAAAATTCTAATGCAAGT	0.398													29	54					0	0	0	0	G	28909991	C	G	28909991	3	3	429	1	0	0	0	0	1	0	0	0	4812	913	32	2	527	2	DSG1	18	28909991	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	7104913	28909991	49167257	725	84992											
ACAA2	10449	broad.mit.edu	37	chr18	47322138	47322138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttatggttccaaccttGatatctgatccaagcttggt	9	17	7	8	0	1	2	0	2	1	0	3	2	3	2	3	2	2	2	3	2	4	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:47322138G>C	ENST00000285093.10	-	4	901	c.426C>G	c.(424-426)atC>atG	p.I142M	ACAA2_ENST00000589432.1_Missense_Mutation_p.I87M|ACAA2_ENST00000587994.1_Missense_Mutation_p.I139M	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	142					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						TTCCAACCTTGATATCTGATC	0.338													8	21					0	0	0	0	C	47322138	G	C	47322138	3	2	429	1	0	0	0	0	1	0	0	0	105	1280	45	2	795	2	ACAA2	18	47322138	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	18412147	47322138	30755110	726	84993											
ZNF532	55205	broad.mit.edu	37	chr18	56648829	56648829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccaatgaggaggaaacaGaaataaaagaagacactaag	22	3	9	7	0	0	4	0	1	0	3	0	6	0	6	2	2	1	0	2	2	7	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:56648829G>C	ENST00000336078.4	+	10	4167	c.3391G>C	c.(3391-3393)Gaa>Caa	p.E1131Q	ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.E1131Q|ZNF532_ENST00000591808.1_Missense_Mutation_p.E1131Q|ZNF532_ENST00000591230.1_Missense_Mutation_p.E1131Q|ZNF532_ENST00000591083.1_Missense_Mutation_p.E1131Q	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GGAGGAAACAGAAATAAAAGA	0.403													20	32					0	0	0	0	C	56648829	G	C	56648829	3	2	429	1	0	0	0	0	1	0	0	0	18067	943	33	2	3417	2	ZNF532	18	56648829	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	9326691	56648829	21428419	727	84994											
CCBE1	147372	broad.mit.edu	37	chr18	57363930	57363930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtcgcgattttgctctctGagcagatttctctatgaaaa	9	15	8	9	3	2	3	0	2	2	1	6	4	2	3	0	0	2	2	0	0	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:57363930G>A	ENST00000439986.4	-	2	180	c.143C>T	c.(142-144)tCa>tTa	p.S48L	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	48					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TTTGCTCTCTGAGCAGATTTC	0.582											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	61					0	0	0	0	A	57363930	G	A	57363930	3	1	429	1	0	0	0	0	1	0	0	0	2756	1294	45	2	1117	2	CCBE1	18	57363930	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	715101	57363930	20713318	728	84995											
CDH7	1005	broad.mit.edu	37	chr18	63489456	63489456	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtgaccctaactgatgtCaacgataatccacctcgctt	11	11	6	13	2	1	2	1	2	0	0	3	3	2	2	3	0	2	1	3	0	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:63489456C>G	ENST00000536984.2	+	5	1459	c.765C>G	c.(763-765)gtC>gtG	p.V255V	CDH7_ENST00000397968.2_Silent_p.V255V|CDH7_ENST00000323011.3_Silent_p.V255V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	255	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAACTGATGTCAACGATAATC	0.388													3	44					0	0	0	0	G	63489456	C	G	63489456	2	3	429	1	0	0	0	0	0	0	0	1	3144	813	29	2		2	CDH7	18	63489456	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6125526	63489456	14587792	729	84996											
TSHZ1	10194	broad.mit.edu	37	chr18	72999979	72999979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctgatggcagcagctttGaggaggcgttggacgagctg	8	9	17	7	2	0	2	0	2	0	0	0	5	0	4	0	4	4	6	0	4	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:72999979G>C	ENST00000322038.5	+	2	3066	c.2482G>C	c.(2482-2484)Gag>Cag	p.E828Q	TSHZ1_ENST00000580243.1_Missense_Mutation_p.E873Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGCAGCTTTGAGGAGGCGTT	0.607													11	39					0	0	0	0	C	72999979	G	C	72999979	3	2	429	1	0	0	0	0	1	0	0	0	16718	1291	45	2	2484	2	TSHZ1	18	72999979	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	9510523	72999979	5077269	730	84997											
STK11	6794	broad.mit.edu	37	chr19	1220629	1220629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgccggaccagccagggctCcccggctttccagccgcccg	4	5	12	20	4	0	0	0	0	0	0	2	1	2	1	8	3	3	2	8	3	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:1220629C>T	ENST00000326873.7	+	5	1820	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	216	Protein kinase.		S -> F (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.S216F(3)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCAGGGCTCCCCGGCTTTC	0.711		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	11					0	0	0	0	T	1220629	C	T	1220629	3	4	429	1	0	0	0	0	1	0	0	0	15377	855	30	2	665	2	STK11	19	1220629	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08		1220629	57908354	731	84998											
APBA3	9546	broad.mit.edu	37	chr19	3759866	3759866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacagtcggggggcaggctCtagaggctcttcaggaccag	9	6	15	11	1	3	1	1	0	2	1	4	2	3	2	1	6	1	3	1	6	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:3759866C>G	ENST00000316757.3	-	2	597	c.397G>C	c.(397-399)Gag>Cag	p.E133Q		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	133					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCAGGCTCTAGAGGCTCT	0.657													22	44					0	0	0	0	G	3759866	C	G	3759866	3	3	429	1	0	0	0	0	1	0	0	0	759	922	32	2	1370	2	APBA3	19	3759866	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2539237	3759866	55369117	732	84999											
STAP2	55620	broad.mit.edu	37	chr19	4325296	4325296	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggatgactggccaactaGaggaagccactgcgtggaca	12	6	13	10	1	1	2	1	1	0	1	1	5	1	5	2	4	3	0	2	4	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:4325296G>C	ENST00000600324.1	-	11	1056	c.989C>G	c.(988-990)tCt>tGt	p.S330C	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Missense_Mutation_p.S330C	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	330	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCAACTAGAGGAAGCCAC	0.567													13	26					0	0	0	0	C	4325296	G	C	4325296	3	2	429	1	0	0	0	0	1	0	0	0	15343	942	33	2	372	2	STAP2	19	4325296	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	565430	4325296	54803687	733	85000											
MPND	84954	broad.mit.edu	37	chr19	4345870	4345870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaccctgccaagaagtcGggctgtggctgggcctctgt	6	9	15	11	1	1	2	0	1	1	1	2	2	1	2	3	3	2	2	3	3	3	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:4345870G>A	ENST00000599840.1	+	3	458	c.423G>A	c.(421-423)tcG>tcA	p.S141S	MPND_ENST00000359935.4_Silent_p.S141S|MPND_ENST00000262966.8_Silent_p.S141S			Q8N594	MPND_HUMAN	MPN domain containing	141							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGAAGTCGGGCTGTGGCT	0.622													20	65					0	0	0	0	A	4345870	G	A	4345870	2	1	429	1	0	0	0	0	0	0	0	1	9801	1103	39	1		1	MPND	19	4345870	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	20574	4345870	54783113	734	85001											
LRG1	116844	broad.mit.edu	37	chr19	4538895	4538895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctcagggtgacccccCaggctgaggctgccaacagc	7	5	15	14	0	1	2	1	2	0	0	1	2	1	2	4	5	3	3	4	5	1	0	rs142669067		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:4538895C>G	ENST00000306390.6	-	2	561	c.101G>C	c.(100-102)tGg>tCg	p.W34S	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	34						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGACCCCCCAGGCTGAGGC	0.582													30	79					0	0	0	0	G	4538895	C	G	4538895	3	3	429	1	0	0	0	0	1	0	0	0	9006	595	21	4	946	4	LRG1	19	4538895	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	193025	4538895	54590088	735	85002											
SAFB2	9667	broad.mit.edu	37	chr19	5595458	5595458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgattttatcaaacgacaaGatgtctctcttttctttgct	9	19	5	8	1	4	2	1	1	3	1	5	3	4	2	0	0	2	1	0	0	3	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:5595458G>A	ENST00000252542.4	-	14	2097	c.1833C>T	c.(1831-1833)atC>atT	p.I611I		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	611	Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CAAACGACAAGATGTCTCTCT	0.478													17	17					0	0	0	0	A	5595458	G	A	5595458	2	1	429	1	0	0	0	0	0	0	0	1	13892	932	33	2		2	SAFB2	19	5595458	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1056563	5595458	53533525	736	85003											
SH2D3A	10045	broad.mit.edu	37	chr19	6754983	6754983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggggcatcatgggggcaGaaagagatctcagcctgtgg	10	6	18	7	0	2	2	2	0	1	2	3	4	2	2	1	5	1	2	1	5	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:6754983G>T	ENST00000245908.6	-	5	1109	c.840C>A	c.(838-840)ttC>ttA	p.F280L	SH2D3A_ENST00000437152.3_Missense_Mutation_p.F158L	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	280					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.F280L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CATGGGGGCAGAAAGAGATCT	0.612													64	213					1.42676e-28	1.50215e-28	1	0	T	6754983	G	T	6754983	3	4	429	1	0	0	0	0	1	0	0	0	14320	933	33	2	914	2	SH2D3A	19	6754983	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1159525	6754983	52374000	737	85004											
VAV1	7409	broad.mit.edu	37	chr19	6853020	6853020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactctctaaaggattgcttCaagtctctggacaccacctt	11	12	6	12	0	3	0	1	0	2	0	5	2	3	2	2	2	2	1	2	2	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:6853020C>G	ENST00000304076.2	+	24	2290	c.2196C>G	c.(2194-2196)ttC>ttG	p.F732L	VAV1_ENST00000602142.1_Missense_Mutation_p.F754L|VAV1_ENST00000599806.1_Missense_Mutation_p.F699L|VAV1_ENST00000596764.1_Missense_Mutation_p.F722L|VAV1_ENST00000539284.1_Missense_Mutation_p.F657L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	754	SH2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGGATTGCTTCAAGTCTCTGG	0.562													5	47					0	0	0	0	G	6853020	C	G	6853020	3	3	429	1	0	0	0	0	1	0	0	0	17227	825	29	2	2360	2	VAV1	19	6853020	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	98037	6853020	52275963	738	85005											
ARHGEF18	23370	broad.mit.edu	37	chr19	7529459	7529459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcagatggcagtttcaaGaagaaagtcagcagcactga	14	9	10	8	0	3	4	3	1	1	3	4	4	3	4	0	1	2	4	0	1	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7529459G>A	ENST00000593531.1	+	16	2096	c.2096G>A	c.(2095-2097)aGa>aAa	p.R699K	ARHGEF18_ENST00000319670.9_Silent_p.K583K|ARHGEF18_ENST00000359920.6_Silent_p.K741K																							GCAGTTTCAAGAAGAAAGTCA	0.632													23	85					0	0	0	0	A	7529459	G	A	7529459	3	1	429	1	0	0	0	0	1	0	0	0	903	933	33	2	2273	2	ARHGEF18	19	7529459	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	676439	7529459	51599524	739	85006											
ZNF358	140467	broad.mit.edu	37	chr19	7585784	7585784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagccctccctaccggcgaGagtccagagtgggtacagga	9	5	13	14	2	0	2	0	0	0	2	2	4	2	3	5	3	3	1	5	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7585784G>C	ENST00000597229.1	+	2	1826	c.1656G>C	c.(1654-1656)gaG>gaC	p.E552D	ZNF358_ENST00000394341.2_Missense_Mutation_p.E552D	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	552					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTACCGGCGAGAGTCCAGAGT	0.652													15	99					0	0	0	0	C	7585784	G	C	7585784	3	2	429	1	0	0	0	0	1	0	0	0	17962	933	33	2	1658	2	ZNF358	19	7585784	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	56325	7585784	51543199	740	85007											
PNPLA6	10908	broad.mit.edu	37	chr19	7605588	7605588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctcagcatcctggatGtcatcaccgtgagtgaccag	8	10	10	13	1	3	2	3	2	1	0	5	3	4	3	4	1	1	1	4	1	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7605588G>A	ENST00000221249.6	+	9	1101	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	PNPLA6_ENST00000545201.2_Missense_Mutation_p.V224I|PNPLA6_ENST00000414982.3_Missense_Mutation_p.V272I|PNPLA6_ENST00000600737.1_Missense_Mutation_p.V263I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.V224I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	263					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CATCCTGGATGTCATCACCGT	0.582													26	99					0	0	0	0	A	7605588	G	A	7605588	3	1	429	1	0	0	0	0	1	0	0	0	12241	1377	48	4	840	4	PNPLA6	19	7605588	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	19804	7605588	51523395	741	85008											
LRRC8E	80131	broad.mit.edu	37	chr19	7964455	7964455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttccgttccgtgcgggagGagactggcatgggggacatt	6	9	16	10	3	0	1	0	0	0	1	2	4	2	3	3	5	1	2	3	5	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7964455G>A	ENST00000306708.6	+	3	1149	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	350						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTGCGGGAGGAGACTGGCAT	0.562													19	93					0	0	0	0	A	7964455	G	A	7964455	3	1	429	1	0	0	0	0	1	0	0	0	9089	1175	41	2	1054	2	LRRC8E	19	7964455	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	358867	7964455	51164528	742	85009											
LRRC8E	80131	broad.mit.edu	37	chr19	7965769	7965769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaccagggtctgccggcaGaagtgcgggacaagatggag	10	7	16	8	2	1	2	0	0	1	2	1	4	1	4	2	4	3	1	2	4	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7965769G>A	ENST00000306708.6	+	3	2463	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	788						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCTGCCGGCAGAAGTGCGGGA	0.567													19	96					0	0	0	0	A	7965769	G	A	7965769	3	1	429	1	0	0	0	0	1	0	0	0	9089	943	33	2	2368	2	LRRC8E	19	7965769	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1314	7965769	51163214	743	85010											
MUC16	94025	broad.mit.edu	37	chr19	9061761	9061761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgaagacagtgaggaaGagacagagctggcttcttcc	12	7	14	8	0	1	5	0	2	1	3	2	7	2	6	1	3	1	2	1	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9061761G>A	ENST00000397910.4	-	3	25888	c.25685C>T	c.(25684-25686)tCt>tTt	p.S8562F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8564	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGAGGAAGAGACAGAGCT	0.507													15	68					0	0	0	0	A	9061761	G	A	9061761	3	1	429	1	0	0	0	0	1	0	0	0	10043	942	33	2	18166	2	MUC16	19	9061761	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1095992	9061761	50067222	744	85011											
MUC16	94025	broad.mit.edu	37	chr19	9072852	9072852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggtgtcttccatggtgGaggtggtaacatttggagat	7	15	15	4	0	1	1	0	0	1	1	2	3	2	2	1	6	1	1	1	6	1	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9072852G>T	ENST00000397910.4	-	3	14797	c.14594C>A	c.(14593-14595)tCc>tAc	p.S4865Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4867	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCATGGTGGAGGTGGTAAC	0.453													36	177					9.93527e-08	1.01619e-07	1	0	T	9072852	G	T	9072852	3	4	429	1	0	0	0	0	1	0	0	0	10043	1174	41	2	29257	2	MUC16	19	9072852	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11091	9072852	50056131	745	85012											
MUC16	94025	broad.mit.edu	37	chr19	9091809	9091809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggaaggcctgagggtttCagcatggacaggtcaacatt	11	8	13	9	0	2	1	2	1	0	0	2	3	2	3	2	5	2	2	2	5	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9091809C>T	ENST00000397910.4	-	1	209	c.6G>A	c.(4-6)ctG>ctA	p.L2L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGGGTTTCAGCATGGACA	0.542													8	106					0	0	0	0	T	9091809	C	T	9091809	2	4	429	1	0	0	0	0	0	0	0	1	10043	813	29	2		2	MUC16	19	9091809	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	18957	9091809	50037174	746	85013											
OR7D2	162998	broad.mit.edu	37	chr19	9296822	9296822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtgatggcctatgaccGgtttgtggctgtctgccacc	5	11	13	12	2	1	2	0	2	1	0	1	3	1	2	5	3	1	2	5	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9296822G>A	ENST00000344248.2	+	1	544	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCCTATGACCGGTTTGTGGCT	0.502													6	997					0	0	0	0	A	9296822	G	A	9296822	3	1	429	1	0	0	0	0	1	0	0	0	11290	1116	39	1	367	1	OR7D2	19	9296822	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	205013	9296822	49832161	747	85014											
ZNF177	7730	broad.mit.edu	37	chr19	9492159	9492159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgatcagtcatcccttaaGaaacacacacgctctcacac	14	8	4	15	2	3	1	3	0	1	1	6	2	4	1	1	0	1	1	1	0	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9492159G>C	ENST00000541595.2	+	12	1301	c.672G>C	c.(670-672)aaG>aaC	p.K224N	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000589262.1_Missense_Mutation_p.K384N|ZNF177_ENST00000343499.4_Missense_Mutation_p.K224N|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.K224N|ZNF177_ENST00000434737.2_Missense_Mutation_p.K384N	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	224					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CATCCCTTAAGAAACACACAC	0.463													554	114					0	0	0	0	C	9492159	G	C	9492159	3	2	429	1	0	0	0	0	1	0	0	0	17841	933	33	2	1170	2	ZNF177	19	9492159	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	195337	9492159	49636824	748	85015											
ZNF560	147741	broad.mit.edu	37	chr19	9578135	9578135	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagatgagaaagaaacaaaGactttcccacactggtcaca	18	6	8	9	0	1	4	1	1	0	4	2	6	2	4	1	1	1	0	1	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9578135G>C	ENST00000301480.4	-	10	1701	c.1488C>G	c.(1486-1488)gtC>gtG	p.V496V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						AAGAAACAAAGACTTTCCCAC	0.413													14	572					0	0	0	0	C	9578135	G	C	9578135	2	2	429	1	0	0	0	0	0	0	0	1	18086	929	33	2		2	ZNF560	19	9578135	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	85976	9578135	49550848	749	85016											
ZNF560	147741	broad.mit.edu	37	chr19	9580336	9580336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttggcagtgtgctcaactCttcctcttcctccagccaag	6	13	7	15	0	4	0	1	0	3	0	7	0	7	0	4	1	3	2	4	1	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9580336C>G	ENST00000301480.4	-	8	712	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	167	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						GTGCTCAACTCTTCCTCTTCC	0.468													15	184					0	0	0	0	G	9580336	C	G	9580336	3	3	429	1	0	0	0	0	1	0	0	0	18086	922	32	2	1885	2	ZNF560	19	9580336	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2201	9580336	49548647	750	85017											
COL5A3	50509	broad.mit.edu	37	chr19	10077002	10077002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactcacgatctcaaacttCttgtcgggatagaggcaggt	10	12	10	9	2	3	1	2	0	2	1	5	3	3	2	0	3	2	1	0	3	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:10077002C>G	ENST00000264828.3	-	64	4855	c.4770G>C	c.(4768-4770)aaG>aaC	p.K1590N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1590	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCAAACTTCTTGTCGGGAT	0.577													6	86					0	0	0	0	G	10077002	C	G	10077002	3	3	429	1	0	0	0	0	1	0	0	0	3728	912	32	2	483	2	COL5A3	19	10077002	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	496666	10077002	49051981	751	85018											
ANGPTL6	83854	broad.mit.edu	37	chr19	10206706	10206706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaggcgctccaggcgggcGatgagactgctctgctgggt	6	7	16	12	3	1	1	0	1	1	1	2	3	2	1	1	4	2	3	1	4	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:10206706G>A	ENST00000253109.4	-	2	772	c.534C>T	c.(532-534)atC>atT	p.I178I	ANGPTL6_ENST00000589181.1_Silent_p.I178I|ANGPTL6_ENST00000592641.1_Silent_p.I178I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	178					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CCAGGCGGGCGATGAGACTGC	0.697													5	28					0	0	0	0	A	10206706	G	A	10206706	2	1	429	1	0	0	0	0	0	0	0	1	618	1048	37	1		1	ANGPTL6	19	10206706	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	129704	10206706	48922277	752	85019											
ILF3	3609	broad.mit.edu	37	chr19	10798029	10798029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccctgtttaggtcagttCtacagcaacggagggcattc	8	11	10	12	1	2	0	1	0	1	0	4	1	3	1	2	3	3	4	2	3	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:10798029C>G	ENST00000449870.1	+	18	2396	c.2079C>G	c.(2077-2079)ttC>ttG	p.F693L	ILF3_ENST00000588657.1_Missense_Mutation_p.F693L|ILF3_ENST00000590261.1_Missense_Mutation_p.F689L|ILF3_ENST00000318511.3_Missense_Mutation_p.F689L	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	689	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TAGGTCAGTTCTACAGCAACG	0.642													8	42					0	0	0	0	G	10798029	C	G	10798029	3	3	429	1	0	0	0	0	1	0	0	0	7765	912	32	2	2217	2	ILF3	19	10798029	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	591323	10798029	48330954	753	85020											
LDLR	3949	broad.mit.edu	37	chr19	11216217	11216217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagtggcgagtgcatccactCcagctggcgctgtgatggtg	7	9	15	10	2	0	1	0	1	0	0	2	2	2	1	2	3	2	3	2	3	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:11216217C>T	ENST00000558518.1	+	4	822	c.635C>T	c.(634-636)tCc>tTc	p.S212F	LDLR_ENST00000535915.1_Missense_Mutation_p.S171F|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.S212F|LDLR_ENST00000557933.1_Missense_Mutation_p.S212F	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	212	LDL-receptor class A 5.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGCATCCACTCCAGCTGGCGC	0.637													15	89					0	0	0	0	T	11216217	C	T	11216217	3	4	429	1	0	0	0	0	1	0	0	0	8757	855	30	2	649	2	LDLR	19	11216217	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	418188	11216217	47912766	754	85021											
ECSIT	51295	broad.mit.edu	37	chr19	11618648	11618648	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgggccagggcggcctgctGatcgggactctggattcctg	4	8	17	12	3	1	1	0	1	1	0	3	3	2	3	3	5	1	1	3	5	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:11618648G>A	ENST00000270517.7	-	6	949	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_Silent_p.I202I|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000417981.2_Nonsense_Mutation_p.Q58*	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	272					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCGGCCTGCTGATCGGGACTC	0.632													14	52					0	0	0	0	A	11618648	G	A	11618648	4	1	429	1	0	0	0	0	0	1	0	0	4936	1299	45	2	493	2	ECSIT	19	11618648	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	402431	11618648	47510335	755	85022											
ACP5	54	broad.mit.edu	37	chr19	11687266	11687266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgggccagcttcacgtctCggggcctctcaggctgctgg	3	9	15	14	3	3	0	2	0	2	0	5	0	3	0	2	5	3	3	2	5	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:11687266C>T	ENST00000592828.1	-	6	929	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	ACP5_ENST00000412435.2_Missense_Mutation_p.R176Q|ACP5_ENST00000433365.2_Missense_Mutation_p.R176Q|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.R176Q	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	176					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTTCACGTCTCGGGGCCTCTC	0.597													18	71					0	0	0	0	T	11687266	C	T	11687266	3	4	429	1	0	0	0	0	1	0	0	0	164	884	31	1	458	1	ACP5	19	11687266	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	68618	11687266	47441717	756	85023											
CACNA1A	773	broad.mit.edu	37	chr19	13446697	13446697	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggatgaagtacaaccagttCcaagtgttccctgaggcatc	11	9	11	10	0	0	2	0	2	0	0	3	3	2	3	3	2	2	4	3	2	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:13446697C>T	ENST00000360228.5	-	7	1004	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.W335*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	335					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACAACCAGTTCCAAGTGTTCC	0.527													3	25					0	0	0	0	T	13446697	C	T	13446697	4	4	429	1	0	0	0	0	0	1	0	0	2563	856	30	2	6793	2	CACNA1A	19	13446697	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1759431	13446697	45682286	757	85024											
C19orf57	79173	broad.mit.edu	37	chr19	14003599	14003599	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgattttagagccttacCaggctaaaggccccactccc	9	9	9	14	0	0	2	0	1	0	1	1	2	1	2	5	3	2	2	5	3	4	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14003599C>T	ENST00000454313.1	-	5	451	c.393_splice	c.e5+1	p.L131_splice	C19orf57_ENST00000591586.1_Splice_Site_p.L131_splice|C19orf57_ENST00000586783.1_Splice_Site_p.L131_splice|C19orf57_ENST00000346736.2_Splice_Site_p.L131_splice			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	131					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGAGCCTTACCAGGCTAAAGG	0.552													11	42					0	0	0	0	T	14003599	C	T	14003599	5	4	429	1	0	0	0	0	0	0	1	0	1957	608	21	4	1536	4	C19orf57	19	14003599	Splice_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08	556902	14003599	45125384	758	85025											
C19orf57	79173	broad.mit.edu	37	chr19	14003628	14003628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccccactcccacggtcctCatccttcatctcttcttttc	4	14	4	19	1	4	0	2	0	2	0	9	0	7	0	5	2	0	0	5	2	0	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14003628C>T	ENST00000454313.1	-	5	422	c.364G>A	c.(364-366)Gag>Aag	p.E122K	C19orf57_ENST00000591586.1_Missense_Mutation_p.E122K|C19orf57_ENST00000586783.1_Missense_Mutation_p.E122K|C19orf57_ENST00000346736.2_Missense_Mutation_p.E122K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	122					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCACGGTCCTCATCCTTCATC	0.542													15	45					0	0	0	0	T	14003628	C	T	14003628	3	4	429	1	0	0	0	0	1	0	0	0	1957	835	29	2	1565	2	C19orf57	19	14003628	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	29	14003628	45125355	759	85026											
LPHN1	22859	broad.mit.edu	37	chr19	14288503	14288503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcgatggggtagccttCacacgccagctcccggcgca	7	6	12	16	4	1	0	1	0	0	0	3	1	2	0	3	3	3	4	3	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14288503C>T	ENST00000340736.6	-	3	421	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	LPHN1_ENST00000361434.3_Missense_Mutation_p.E42K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	42	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTAGCCTTCACACGCCAGC	0.677													12	125					0	0	0	0	T	14288503	C	T	14288503	3	4	429	1	0	0	0	0	1	0	0	0	8979	835	29	2	4388	2	LPHN1	19	14288503	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	284875	14288503	44840480	760	85027											
CD97	976	broad.mit.edu	37	chr19	14507944	14507944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagctccacccactgcctCaacaacgtgggcagctatca	11	6	7	17	1	2	0	2	0	0	0	3	0	3	0	3	1	5	3	3	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14507944C>T	ENST00000242786.5	+	6	614	c.534C>T	c.(532-534)ctC>ctT	p.L178L	CD97_ENST00000357355.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	178	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCCACTGCCTCAACAACGTGG	0.607													95	96					0	0	0	0	T	14507944	C	T	14507944	2	4	429	1	0	0	0	0	0	0	0	1	3078	813	29	2		2	CD97	19	14507944	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	219441	14507944	44621039	761	85028											
ZNF333	84449	broad.mit.edu	37	chr19	14829049	14829049	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatcgacaggagcaacctCagcctggagaaaaactctat	14	8	8	11	1	3	1	2	0	1	1	4	4	3	2	2	2	4	1	2	2	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14829049C>T	ENST00000292530.6	+	12	1001	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Nonsense_Mutation_p.Q195*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGAGCAACCTCAGCCTGGAGA	0.383													11	50					0	0	0	0	T	14829049	C	T	14829049	4	4	429	1	0	0	0	0	0	1	0	0	17945	827	29	2	952	2	ZNF333	19	14829049	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	321105	14829049	44299934	762	85029											
ILVBL	10994	broad.mit.edu	37	chr19	15226872	15226872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgcaccaactcccagagtCccaaaggcccctaagaggac	12	4	8	17	0	0	2	0	0	0	2	2	3	2	3	6	2	2	1	6	2	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:15226872C>T	ENST00000263383.3	-	13	1621	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	ILVBL_ENST00000534378.1_Silent_p.G387G	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	494	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CTCCCAGAGTCCCAAAGGCCC	0.617													8	50					0	0	0	0	T	15226872	C	T	15226872	2	4	429	1	0	0	0	0	0	0	0	1	7768	842	30	2		2	ILVBL	19	15226872	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	397823	15226872	43902111	763	85030											
BRD4	23476	broad.mit.edu	37	chr19	15350585	15350585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtggatcttctcctccttCaccaccacgaggggctgggg	6	9	13	13	1	3	0	1	0	2	0	5	3	4	1	4	5	0	1	4	5	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:15350585C>T	ENST00000263377.2	-	16	3551	c.3330G>A	c.(3328-3330)gtG>gtA	p.V1110V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1110					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTCCTCCTTCACCACCACGA	0.711			T	C15orf55	lethal midline carcinoma of young people								18	50					0	0	0	0	T	15350585	C	T	15350585	2	4	429	1	0	0	0	0	0	0	0	1	1512	813	29	2		2	BRD4	19	15350585	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	123713	15350585	43778398	764	85031											
CYP4F2	8529	broad.mit.edu	37	chr19	16006318	16006318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgttccagatggtacctGaggcgttgatgacagaccgg	9	9	14	9	2	0	5	0	3	0	2	1	5	1	5	3	3	2	4	3	3	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:16006318G>A	ENST00000221700.5	-	3	436	c.341C>T	c.(340-342)tCa>tTa	p.S114L	CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	114					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGGTACCTGAGGCGTTGAT	0.607													51	156					0	0	0	0	A	16006318	G	A	16006318	3	1	429	1	0	0	0	0	1	0	0	0	4220	1294	45	2	1265	2	CYP4F2	19	16006318	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	655733	16006318	43122665	765	85032											
IL12RB1	3594	broad.mit.edu	37	chr19	18177447	18177447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggatggtgcccagtccacaGacacagagtccaagctatga	12	6	12	11	0	0	3	0	1	0	2	2	4	2	4	3	2	2	1	3	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:18177447G>C	ENST00000600835.1	-	13	1691	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	IL12RB1_ENST00000430026.2_Missense_Mutation_p.S463C|IL12RB1_ENST00000593993.1_Missense_Mutation_p.S463C			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	463	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCAGTCCACAGACACAGAGTC	0.552													8	165					0	0	0	0	C	18177447	G	C	18177447	3	2	429	1	0	0	0	0	1	0	0	0	7679	942	33	2	624	2	IL12RB1	19	18177447	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2171129	18177447	40951536	766	85033											
UPF1	5976	broad.mit.edu	37	chr19	18961674	18961674	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaagctggaggagctgtgGaaggtggggctgcccagcgg	9	5	19	8	1	0	0	0	0	0	0	0	3	0	3	1	7	5	3	1	7	3	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:18961674G>A	ENST00000262803.5	+	5	1079	c.807G>A	c.(805-807)tgG>tgA	p.W269*	UPF1_ENST00000599848.1_Nonsense_Mutation_p.W269*|UPF1_ENST00000600310.1_3'UTR	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	269	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGGAGCTGTGGAAGGTGGGGC	0.647													4	14					0	0	0	0	A	18961674	G	A	18961674	4	1	429	1	0	0	0	0	0	1	0	0	17099	1183	41	2	825	2	UPF1	19	18961674	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	784227	18961674	40167309	767	85034											
ZNF714	148206	broad.mit.edu	37	chr19	21300497	21300497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaaaccctacaaatgtGaagaatgtggcaaagccttt	16	8	10	7	0	0	3	0	1	0	2	0	5	0	3	2	1	3	1	2	1	6	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:21300497G>A	ENST00000596143.1	+	5	1352	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CTACAAATGTGAAGAATGTGG	0.373													15	12					0	0	0	0	A	21300497	G	A	21300497	3	1	429	1	0	0	0	0	1	0	0	0	18213	1291	45	2	1037	2	ZNF714	19	21300497	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	2338823	21300497	37828486	768	85035											
CCNE1	898	broad.mit.edu	37	chr19	30308113	30308113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgacaaagaagatgatGaccgggtttacccaaactca	15	7	8	11	1	1	5	1	3	0	2	1	5	1	5	3	1	2	1	3	1	4	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:30308113G>A	ENST00000262643.3	+	5	529	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CCNE1_ENST00000444983.2_Missense_Mutation_p.D69N|CCNE1_ENST00000357943.5_Missense_Mutation_p.D84N	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	84					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AGAAGATGATGACCGGGTTTA	0.532			A		serous ovarian								25	76					0	0	0	0	A	30308113	G	A	30308113	3	1	429	1	0	0	0	0	1	0	0	0	2949	1290	45	2	264	2	CCNE1	19	30308113	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	9007616	30308113	28820870	769	85036											
UBA2	10054	broad.mit.edu	37	chr19	34919386	34919386	+	Frame_Shift_Del	DEL	G	G	-																															agctggctgaggcggtggccGggggccgggtgctggtggtg																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:34919386delG	ENST00000246548.4	+	1	119	c.49delG	c.(49-51)ggfs	p.G18fs		NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	18					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCGGTGGCCGGGGGCCGGGT	0.741													2	4	---	---	---	---					-	34919386	G	-	34919386	7	5	429	1	0	1	0	1	0	0	0	0	16924	1116	39	0	51	0	UBA2	19	34919386	Frame_Shift_Del	DEL	G	TCGA-HL-7533-01A-11D-2229-08	4611273	34919386	24209597	770	85037											
CATSPERG	57828	broad.mit.edu	37	chr19	38861431	38861431	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagagacagttgatgacctGagtgtcccacctgccccagc	9	7	12	13	0	0	4	0	3	0	1	1	6	1	5	5	1	2	1	5	1	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:38861431G>C	ENST00000409235.3	+	29	3594	c.3479G>C	c.(3478-3480)tGa>tCa	p.*1160S	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Nonstop_Mutation_p.*1120S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	0					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTGATGACCTGAGTGTCCCAC	0.572													18	57					0	0	0	0	C	38861431	G	C	38861431	4	2	429	1	0	0	0	0	0	0	0	0	2717	1285	45	2	3589	2	CATSPERG	19	38861431	Nonstop_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3942045	38861431	20267552	771	85038											
FAM98C	147965	broad.mit.edu	37	chr19	38895553	38895553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttattactttcaggctttCtctgctcagagctccaagcc	8	15	6	12	0	3	1	2	0	1	1	5	1	4	1	2	1	4	3	2	1	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:38895553C>G	ENST00000252530.5	+	4	374	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.L119V|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	119										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCAGGCTTTCTCTGCTCAGA	0.602													9	385					0	0	0	0	G	38895553	C	G	38895553	3	3	429	1	0	0	0	0	1	0	0	0	5703	913	32	2	369	2	FAM98C	19	38895553	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	34122	38895553	20233430	772	85039											
LRFN1	57622	broad.mit.edu	37	chr19	39798544	39798544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctagagtagggggcgccGaggttggtggctccagggcg	6	6	21	8	3	0	1	0	0	0	1	1	3	1	1	2	6	1	4	2	6	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:39798544G>A	ENST00000248668.4	-	2	2044	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	682						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGGGGCGCCGAGGTTGGTGG	0.697													5	14					0	0	0	0	A	39798544	G	A	39798544	3	1	429	1	0	0	0	0	1	0	0	0	9001	1059	37	1	274	1	LRFN1	19	39798544	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	902991	39798544	19330439	773	85040											
DLL3	10683	broad.mit.edu	37	chr19	39990098	39990098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctcttgcaggtgcccttCcgggacgcctggcctgtaag	4	9	14	14	2	1	0	0	0	1	0	2	1	2	1	5	4	2	2	5	4	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:39990098C>T	ENST00000205143.4	+	2	343	c.336C>T	c.(334-336)ttC>ttT	p.F112F	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Silent_p.F112F	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	112					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGTGCCCTTCCGGGACGCCT	0.716													5	6					0	0	0	0	T	39990098	C	T	39990098	2	4	429	1	0	0	0	0	0	0	0	1	4604	854	30	2		2	DLL3	19	39990098	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	191554	39990098	19138885	774	85041											
MAP3K10	4294	broad.mit.edu	37	chr19	40719513	40719513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcagtgccactgcctgccGagccctccccgggggcgcgg	3	6	14	18	4	1	0	1	0	1	0	3	1	2	0	6	3	4	0	6	3	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:40719513G>A	ENST00000253055.3	+	9	2215	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	643					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACTGCCTGCCGAGCCCTcccc	0.761													13	7					0	0	0	0	A	40719513	G	A	40719513	3	1	429	1	0	0	0	0	1	0	0	0	9313	1059	37	1	1961	1	MAP3K10	19	40719513	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	729415	40719513	18409470	775	85042											
ADCK4	79934	broad.mit.edu	37	chr19	41220510	41220510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgtccaccggtcccccGaagtaggccccccaccttca	7	6	8	20	2	1	0	1	0	0	0	3	1	3	0	8	2	1	2	8	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41220510G>A	ENST00000324464.3	-	2	329	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	ADCK4_ENST00000450541.1_Missense_Mutation_p.R10W|ADCK4_ENST00000243583.6_Missense_Mutation_p.R10W	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	10						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCGGTCCCCCGAAGTAGGCCC	0.652													22	38					0	0	0	0	A	41220510	G	A	41220510	3	1	429	1	0	0	0	0	1	0	0	0	290	1057	37	1	1662	1	ADCK4	19	41220510	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	500997	41220510	17908473	776	85043											
EGLN2	112398	broad.mit.edu	37	chr19	41307102	41307102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcggtcgcgtgctggccGaggtggaggccctcaaacgg	5	6	19	11	5	1	0	1	0	0	0	2	2	1	1	2	7	2	1	2	7	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41307102G>A	ENST00000593726.1	+	1	1653	c.625G>A	c.(625-627)Gag>Aag	p.E209K	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Missense_Mutation_p.E209K|EGLN2_ENST00000406058.2_Missense_Mutation_p.E209K			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	209					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CGTGCTGGCCGAGGTGGAGGC	0.687													61	128					0	0	0	0	A	41307102	G	A	41307102	3	1	429	1	0	0	0	0	1	0	0	0	5005	1059	37	1	627	1	EGLN2	19	41307102	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	86592	41307102	17821881	777	85044											
CCDC97	90324	broad.mit.edu	37	chr19	41828570	41828570	+	Missense_Mutation	SNP	G	G	A																															atgaggaggagaggtactttGatgaggaagaacctgaggat																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41828570G>A	ENST00000269967.3	+	5	1104	c.982G>A	c.(982-984)Gat>Aat	p.D328N		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	328										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GAGGTACTTTGATGAGGAAGA	0.617													30	59					0	0	0	0	A	41828570	G	A	41828570	3	1	429	1	0	0	0	0	1	0	0	0	2902	1290	45	2	1000	2	CCDC97	19	41828570	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	521468	41828570	17300413	778	85045	1066	2									
CCDC97	90324	broad.mit.edu	37	chr19	41828573	41828573	+	Missense_Mutation	SNP	G	G	A																															aggaggagaggtactttgatGaggaagaacctgaggatgcg																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41828573G>A	ENST00000269967.3	+	5	1107	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	329										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GTACTTTGATGAGGAAGAACC	0.617													32	58					0	0	0	0	A	41828573	G	A	41828573	3	1	429	1	0	0	0	0	1	0	0	0	2902	1291	45	2	1003	2	CCDC97	19	41828573	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3	41828573	17300410	779	85046	1066	2									
ATP5SL	55101	broad.mit.edu	37	chr19	41944281	41944281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggcgatggatgcccctGatacgcccattccacatggg	8	7	11	15	2	0	1	0	1	0	0	1	3	1	2	5	3	2	0	5	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41944281G>C	ENST00000221943.9	-	2	62	c.57C>G	c.(55-57)atC>atG	p.I19M	ATP5SL_ENST00000438807.3_Missense_Mutation_p.I19M|ATP5SL_ENST00000417807.3_Missense_Mutation_p.I25M|ATP5SL_ENST00000597457.1_Missense_Mutation_p.I19M|ATP5SL_ENST00000301183.11_Missense_Mutation_p.I25M|ATP5SL_ENST00000595425.1_Missense_Mutation_p.I19M|ATP5SL_ENST00000592922.2_Missense_Mutation_p.I19M|ATP5SL_ENST00000590641.2_Missense_Mutation_p.I25M|ATP5SL_ENST00000589970.1_Missense_Mutation_p.I19M	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	19										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGATGCCCCTGATACGCCCAT	0.597													15	53					0	0	0	0	C	41944281	G	C	41944281	3	2	429	1	0	0	0	0	1	0	0	0	1168	1280	45	2	736	2	ATP5SL	19	41944281	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	115708	41944281	17184702	780	85047											
POU2F2	5452	broad.mit.edu	37	chr19	42600013	42600013	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctcaggttgagggcctcGaagcgggaaatggtcgtctg	9	8	16	8	3	2	1	1	1	1	0	4	3	2	2	1	4	2	2	1	4	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:42600013G>A	ENST00000389341.5	-	9	750	c.684C>T	c.(682-684)ttC>ttT	p.F228F	POU2F2_ENST00000533720.1_Silent_p.F228F|POU2F2_ENST00000560398.1_Silent_p.F250F|POU2F2_ENST00000529952.1_Silent_p.F244F|POU2F2_ENST00000342301.4_Silent_p.F244F|POU2F2_ENST00000560558.1_Silent_p.F189F|POU2F2_ENST00000529067.1_Silent_p.F228F|POU2F2_ENST00000526816.2_Silent_p.F244F	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	244	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TGAGGGCCTCGAAGCGGGAAA	0.622													65	101					0	0	0	0	A	42600013	G	A	42600013	2	1	429	1	0	0	0	0	0	0	0	1	12343	1049	37	1		1	POU2F2	19	42600013	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	655732	42600013	16528970	781	85048											
CIC	23152	broad.mit.edu	37	chr19	42795873	42795873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttctcagtacctgtgcaGaatggtgcccagccccccag	7	8	9	17	0	1	1	1	0	1	1	2	1	1	1	6	1	4	2	6	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:42795873G>A	ENST00000572681.2	+	12	5657	c.5589G>A	c.(5587-5589)caG>caA	p.Q1863Q	CIC_ENST00000575354.2_Silent_p.Q954Q|CIC_ENST00000160740.3_Silent_p.Q954Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	954					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACCTGTGCAGAATGGTGCCC	0.607			"Mis, F, S"		oligodendroglioma								27	82					0	0	0	0	A	42795873	G	A	42795873	2	1	429	1	0	0	0	0	0	0	0	1	3453	933	33	2		2	CIC	19	42795873	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	195860	42795873	16333110	782	85049											
CEACAM1	634	broad.mit.edu	37	chr19	43031509	43031509	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggcatggattcagtagtGagctgggcagtggtgggcgg	8	9	19	5	1	1	1	1	1	0	0	1	2	1	2	0	6	1	4	0	6	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:43031509G>C	ENST00000161559.6	-	2	242	c.108C>G	c.(106-108)ctC>ctG	p.L36L	CEACAM1_ENST00000403444.3_Silent_p.L36L|CEACAM1_ENST00000358394.3_Silent_p.L36L|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Silent_p.L36L|CEACAM1_ENST00000599389.1_Silent_p.L36L|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Silent_p.L36L|CEACAM1_ENST00000308072.4_5'UTR|CEACAM1_ENST00000403461.1_Silent_p.L36L	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	36	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ATTCAGTAGTGAGCTGGGCAG	0.498													78	150					0	0	0	0	C	43031509	G	C	43031509	2	2	429	1	0	0	0	0	0	0	0	1	3216	1277	45	2		2	CEACAM1	19	43031509	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	235636	43031509	16097474	783	85050											
PHLDB3	653583	broad.mit.edu	37	chr19	44008099	44008099	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccttctcccacttCttcttcctctgcctgctgct	1	16	6	18	0	4	0	0	0	4	0	6	0	5	0	4	0	5	4	4	0	0	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44008099C>A	ENST00000292140.5	-	2	532	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	PHLDB3_ENST00000599242.1_Nonsense_Mutation_p.E58*	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	58										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TCTCCCACTTCTTCTTCCTCT	0.697													23	54					1.42536e-11	1.47896e-11	1	0	A	44008099	C	A	44008099	4	1	429	1	0	0	0	0	0	1	0	0	11925	922	32	2	1810	2	PHLDB3	19	44008099	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	976590	44008099	15120884	784	85051											
ZNF221	7638	broad.mit.edu	37	chr19	44471229	44471229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacaacttcattcccatcaGacatgccatactggagaaaa	15	9	5	12	0	3	2	3	0	0	2	4	3	4	2	2	1	3	0	2	1	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44471229G>C	ENST00000251269.5	+	6	1903	c.1575G>C	c.(1573-1575)caG>caC	p.Q525H	ZNF221_ENST00000592350.1_Missense_Mutation_p.Q525H|ZNF221_ENST00000587682.1_Missense_Mutation_p.Q525H	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATTCCCATCAGACATGCCATA	0.433													28	80					0	0	0	0	C	44471229	G	C	44471229	3	2	429	1	0	0	0	0	1	0	0	0	17870	933	33	2	1589	2	ZNF221	19	44471229	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	463130	44471229	14657754	785	85052											
ZNF230	7773	broad.mit.edu	37	chr19	44513041	44513041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaccaagacgtgatgcttGagaacttcacgaacctgctg	11	10	10	10	2	1	3	1	2	0	2	1	5	1	3	2	0	5	3	2	0	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44513041G>C	ENST00000429154.2	+	3	343	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	ZNF230_ENST00000585632.1_Missense_Mutation_p.E39Q	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CGTGATGCTTGAGAACTTCAC	0.527													87	130					0	0	0	0	C	44513041	G	C	44513041	3	2	429	1	0	0	0	0	1	0	0	0	17879	1291	45	2	121	2	ZNF230	19	44513041	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	41812	44513041	14615942	786	85053											
ZNF233	353355	broad.mit.edu	37	chr19	44778014	44778014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagagagcctgtaaatgtGatgtatatgataaaggcttc	14	11	12	4	0	0	4	0	2	0	2	1	6	0	4	1	1	1	3	1	1	6	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44778014G>C	ENST00000391958.2	+	5	1328	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.D383H	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTGTAAATGTGATGTATATGA	0.438													18	48					0	0	0	0	C	44778014	G	C	44778014	3	2	429	1	0	0	0	0	1	0	0	0	17881	1290	45	2	1215	2	ZNF233	19	44778014	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	264973	44778014	14350969	787	85054											
ZNF285	26974	broad.mit.edu	37	chr19	44891631	44891631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catactggtcacatttataaGatttttctcctaggtgagtg	10	16	8	7	0	2	2	1	1	1	1	3	2	2	2	1	2	1	0	1	2	4	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44891631G>C	ENST00000330997.4	-	4	840	c.776C>G	c.(775-777)tCt>tGt	p.S259C	ZNF285_ENST00000591679.1_Missense_Mutation_p.S266C|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S259C	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACATTTATAAGATTTTTCTCC	0.418													60	106					0	0	0	0	C	44891631	G	C	44891631	3	2	429	1	0	0	0	0	1	0	0	0	17917	942	33	2	1000	2	ZNF285	19	44891631	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	113617	44891631	14237352	788	85055											
CBLC	23624	broad.mit.edu	37	chr19	45284578	45284578	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcacctgcagcgggcaCgtgtccatcttcgagttcga	7	9	11	14	4	2	0	1	0	1	0	5	3	3	0	3	1	2	3	3	1	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:45284578C>T	ENST00000270279.3	+	3	678	c.615C>T	c.(613-615)caC>caT	p.H205H	CBLC_ENST00000341505.4_Silent_p.H205H	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	205	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCAGCGGGCACGTGTCCATCT	0.617			M		AML								4	83					0	0	0	0	T	45284578	C	T	45284578	2	4	429	1	0	0	0	0	0	0	0	1	2727	535	19	1		1	CBLC	19	45284578	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	392947	45284578	13844405	789	85056											
NOVA2	4858	broad.mit.edu	37	chr19	46444141	46444141	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactgttccatcacggctttCaccgtggcgcctcccttgcc	4	11	9	17	3	2	0	2	0	0	0	4	1	4	0	5	2	1	2	5	2	0	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:46444141C>G	ENST00000263257.5	-	4	653	c.459G>C	c.(457-459)gtG>gtC	p.V153V		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	153	KH 2.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCACGGCTTTCACCGTGGCGC	0.622													3	36					0	0	0	0	G	46444141	C	G	46444141	2	3	429	1	0	0	0	0	0	0	0	1	10625	813	29	2		2	NOVA2	19	46444141	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1159563	46444141	12684842	790	85057											
ZC3H4	23211	broad.mit.edu	37	chr19	47572471	47572471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgagggcaggaagtcaGggacaccggcgcctggcttc	7	5	18	11	2	1	1	1	1	0	0	2	3	1	3	2	6	0	3	2	6	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:47572471G>T	ENST00000253048.5	-	14	2313	c.2276C>A	c.(2275-2277)cCt>cAt	p.P759H	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	759							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGGAAGTCAGGGACACCGGC	0.682													17	51					1.5739e-10	1.62681e-10	1	0	T	47572471	G	T	47572471	3	4	429	1	0	0	0	0	1	0	0	0	17665	1000	35	4	1643	4	ZC3H4	19	47572471	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1128330	47572471	11556512	791	85058											
ZC3H4	23211	broad.mit.edu	37	chr19	47572551	47572551	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagagggtgctcagggaaGaggtgctccccaggctcccc	7	6	14	14	0	1	2	1	0	0	2	4	3	4	3	5	4	2	3	5	4	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:47572551G>C	ENST00000253048.5	-	14	2233	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	732							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTCAGGGAAGAGGTGCTCCC	0.682													9	25					0	0	0	0	C	47572551	G	C	47572551	2	2	429	1	0	0	0	0	0	0	0	1	17665	929	33	2		2	ZC3H4	19	47572551	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	80	47572551	11556432	792	85059											
BAX	581	broad.mit.edu	37	chr19	49459487	49459487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggacacagactccccccGagaggtctttttccgagtgg	7	9	12	13	3	1	2	0	0	1	2	3	5	3	3	4	3	0	0	4	3	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:49459487G>A	ENST00000293288.8	+	4	266	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	BAX_ENST00000391871.3_3'UTR|BAX_ENST00000354470.3_Missense_Mutation_p.R40Q|BAX_ENST00000345358.7_Missense_Mutation_p.R89Q|BAX_ENST00000415969.2_Missense_Mutation_p.R89Q|BAX_ENST00000539787.1_Missense_Mutation_p.R89Q	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	89					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GACTCCCCCCGAGAGGTCTTT	0.577													43	94					0	0	0	0	A	49459487	G	A	49459487	3	1	429	1	0	0	0	0	1	0	0	0	1332	1058	37	1	280	1	BAX	19	49459487	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1886936	49459487	9669496	793	85060											
HRC	3270	broad.mit.edu	37	chr19	49656682	49656682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acctgtgtcctcaccgctttCctcctcgctggaggcacctc	4	11	8	18	2	1	0	1	0	0	0	6	1	4	1	6	2	0	3	6	2	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:49656682C>G	ENST00000252825.4	-	1	1999	c.1813G>C	c.(1813-1815)Gaa>Caa	p.E605Q	HRC_ENST00000595625.1_Missense_Mutation_p.E605Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	605					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCACCGCTTTCCTCCTCGCTG	0.647													11	26					0	0	0	0	G	49656682	C	G	49656682	3	3	429	1	0	0	0	0	1	0	0	0	7402	864	30	2	310	2	HRC	19	49656682	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	197195	49656682	9472301	794	85061											
TEAD2	8463	broad.mit.edu	37	chr19	49850456	49850456	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagaactcacccagaacttGaccaggaagaaggcatgggg	14	5	13	9	0	1	4	1	2	0	3	1	6	1	5	2	4	2	1	2	4	4	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:49850456G>C	ENST00000377214.4	-	8	1271	c.909C>G	c.(907-909)gtC>gtG	p.V303V	TEAD2_ENST00000539846.1_Silent_p.V172V|TEAD2_ENST00000598810.1_Silent_p.V304V|TEAD2_ENST00000311227.2_Silent_p.V300V|TEAD2_ENST00000601519.1_Silent_p.V303V|TEAD2_ENST00000593945.1_Silent_p.V304V			Q15562	TEAD2_HUMAN	TEA domain family member 2	300	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCCAGAACTTGACCAGGAAGA	0.547													75	199					0	0	0	0	C	49850456	G	C	49850456	2	2	429	1	0	0	0	0	0	0	0	1	15833	1277	45	2		2	TEAD2	19	49850456	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	193774	49850456	9278527	795	85062											
CPT1C	126129	broad.mit.edu	37	chr19	50204037	50204037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacactgcacgtggccctGaggctgcttctgtcctacca	6	11	9	15	1	2	1	1	1	1	0	3	1	3	1	3	2	3	3	3	2	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:50204037G>A	ENST00000392518.4	+	5	750	c.378G>A	c.(376-378)ctG>ctA	p.L126L	CPT1C_ENST00000405931.2_Silent_p.L126L|CPT1C_ENST00000598293.1_Silent_p.L126L|CPT1C_ENST00000323446.5_Silent_p.L126L|CPT1C_ENST00000354199.5_Silent_p.L126L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	126					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACGTGGCCCTGAGGCTGCTTC	0.657													43	135					0	0	0	0	A	50204037	G	A	50204037	2	1	429	1	0	0	0	0	0	0	0	1	3863	1277	45	2		2	CPT1C	19	50204037	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	353581	50204037	8924946	796	85063											
GPR32	2854	broad.mit.edu	37	chr19	51274298	51274298	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctctgtcctctaccccgtCtgggccctgaaccaccgcac	6	9	7	19	2	3	1	0	1	3	0	5	1	4	1	6	1	2	1	6	1	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:51274298C>G	ENST00000270590.4	+	1	578	c.441C>G	c.(439-441)gtC>gtG	p.V147V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	147						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCTACCCCGTCTGGGCCCTGA	0.592													44	116					0	0	0	0	G	51274298	C	G	51274298	2	3	429	1	0	0	0	0	0	0	0	1	6737	900	32	2		2	GPR32	19	51274298	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1070261	51274298	7854685	797	85064											
ZNF649	65251	broad.mit.edu	37	chr19	52395143	52395143	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagatgatcatcagctttCtcaatttctaagagagagaa	14	12	8	7	0	4	4	3	1	2	3	5	6	4	4	0	0	2	2	0	0	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:52395143C>G	ENST00000354957.3	-	5	530	c.246G>C	c.(244-246)gaG>gaC	p.E82D	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.E82D	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CATCAGCTTTCTCAATTTCTA	0.408													20	38					0	0	0	0	G	52395143	C	G	52395143	3	3	429	1	0	0	0	0	1	0	0	0	18159	912	32	2	1275	2	ZNF649	19	52395143	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1120845	52395143	6733840	798	85065											
ZNF808	388558	broad.mit.edu	37	chr19	53046592	53046592	+	Missense_Mutation	SNP	C	C	T																															gaaaggagtcaggcatggctCttcctcaggtgaagtgatat																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:53046592C>T	ENST00000359798.4	+	3	235	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGGCATGGCTCTTCCTCAGGT	0.373													12	143					0	0	0	0	T	53046592	C	T	53046592	3	4	429	1	0	0	0	0	1	0	0	0	18266	913	32	2	57	2	ZNF808	19	53046592	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	651449	53046592	6082391	799	85066	1067	2									
ZNF808	388558	broad.mit.edu	37	chr19	53046598	53046598	+	Nonsense_Mutation	SNP	C	C	T																															agtcaggcatggctcttcctCaggtgaagtgatattcctct																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:53046598C>T	ENST00000359798.4	+	3	241	c.61C>T	c.(61-63)Cag>Tag	p.Q21*		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCTCTTCCTCAGGTGAAGTG	0.378													13	139					0	0	0	0	T	53046598	C	T	53046598	4	4	429	1	0	0	0	0	0	1	0	0	18266	827	29	2	63	2	ZNF808	19	53046598	Nonsense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	6	53046598	6082385	800	85067	1067	2									
ZNF808	388558	broad.mit.edu	37	chr19	53058363	53058363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtagaattcatagtggtGagaaaccttacaagtgtagt	14	12	10	5	1	1	2	1	1	0	2	2	3	1	2	1	1	2	2	1	1	7	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:53058363G>A	ENST00000359798.4	+	5	2374	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCATAGTGGTGAGAAACCTTA	0.433													54	182					0	0	0	0	A	53058363	G	A	53058363	3	1	429	1	0	0	0	0	1	0	0	0	18266	1291	45	2	2204	2	ZNF808	19	53058363	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	11765	53058363	6070620	801	85068											
CACNG8	59283	broad.mit.edu	37	chr19	54481432	54481432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtctgcgtgaagatcaatCatttcccggaggacacggac	10	8	12	11	4	3	2	2	1	1	1	4	5	4	5	1	3	1	0	1	3	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:54481432C>G	ENST00000270458.2	+	2	419	c.316C>G	c.(316-318)Cat>Gat	p.H106D		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	106					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GAAGATCAATCATTTCCCGGA	0.637													6	9					0	0	0	0	G	54481432	C	G	54481432	3	3	429	1	0	0	0	0	1	0	0	0	2588	826	29	2	322	2	CACNG8	19	54481432	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1423069	54481432	4647551	802	85069											
CNOT3	4849	broad.mit.edu	37	chr19	54656013	54656013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcggaacgggcagccatCagctctggcattgaggaccc	9	6	14	12	2	2	1	1	1	1	0	2	3	2	3	2	5	3	3	2	5	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:54656013C>G	ENST00000406403.1	+	13	3259	c.1656C>G	c.(1654-1656)atC>atG	p.I552M	CNOT3_ENST00000358389.3_Missense_Mutation_p.I371M|CNOT3_ENST00000221232.5_Missense_Mutation_p.I552M|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	552	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCAGCCATCAGCTCTGGCA	0.647													31	47					0	0	0	0	G	54656013	C	G	54656013	3	3	429	1	0	0	0	0	1	0	0	0	3650	816	29	2	1706	2	CNOT3	19	54656013	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	174581	54656013	4472970	803	85070											
LILRA6	79168	broad.mit.edu	37	chr19	54745500	54745500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggtgggaccacacccgggGggtgtttgtataatagtaat	9	10	16	6	1	0	0	0	0	0	0	0	1	0	1	2	6	0	3	2	6	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:54745500G>T	ENST00000440558.2	-	4	658	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	LILRA6_ENST00000419410.2_Missense_Mutation_p.P204T|LILRA6_ENST00000245621.5_Missense_Mutation_p.P204T|LILRA6_ENST00000270464.5_Missense_Mutation_p.P204T|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.P204T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACCCGGGGGGTGTTTGTA	0.617													44	130					2.43468e-25	2.55333e-25	1	0	T	54745500	G	T	54745500	3	4	429	1	0	0	0	0	1	0	0	0	8843	1232	43	4	855	4	LILRA6	19	54745500	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	89487	54745500	4383483	804	85071											
RPL28	6158	broad.mit.edu	37	chr19	55897785	55897785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagtttcctgatcaagagGaataagcagacctacagcac	14	8	8	11	0	1	3	1	1	0	2	3	4	3	4	3	1	3	3	3	1	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:55897785G>T	ENST00000344063.2	+	2	689	c.60G>T	c.(58-60)agG>agT	p.R20S	RPL28_ENST00000558131.1_Missense_Mutation_p.R20S|RPL28_ENST00000560055.1_Missense_Mutation_p.R20S|RPL28_ENST00000558752.1_Missense_Mutation_p.R20S|RPL28_ENST00000431533.2_Missense_Mutation_p.R20S|RPL28_ENST00000559463.1_Missense_Mutation_p.R20S|RPL28_ENST00000428193.2_Missense_Mutation_p.R20S|RPL28_ENST00000560583.1_Missense_Mutation_p.R20S|RPL28_ENST00000558815.1_Missense_Mutation_p.R20S|RPL28_ENST00000458349.2_Missense_Mutation_p.R20S			P46779	RL28_HUMAN	ribosomal protein L28	20					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		TGATCAAGAGGAATAAGCAGA	0.607													13	24					0.000308642	0.00031183	1	0	T	55897785	G	T	55897785	3	4	429	1	0	0	0	0	1	0	0	0	13662	1165	41	2	62	2	RPL28	19	55897785	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1152285	55897785	3231198	805	85072											
NLRP11	204801	broad.mit.edu	37	chr19	56303677	56303677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagacttactgaagctcctCtaactgacaggttggaaaca	13	9	10	9	0	1	3	0	2	1	1	2	5	2	4	1	3	4	2	1	3	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:56303677C>G	ENST00000443188.1	-	9	3213	c.2503G>C	c.(2503-2505)Gag>Cag	p.E835Q	NLRP11_ENST00000589824.2_Missense_Mutation_p.E781Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.E781Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.E736Q|NLRP11_ENST00000589093.1_Missense_Mutation_p.E835Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	835							ATP binding	p.E835Q(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)		TGAAGCTCCTCTAACTGACAG	0.488													60	72					0	0	0	0	G	56303677	C	G	56303677	3	3	429	1	0	0	0	0	1	0	0	0	10543	922	32	2	614	2	NLRP11	19	56303677	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	405892	56303677	2825306	806	85073											
ZIM3	114026	broad.mit.edu	37	chr19	57646835	57646835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttgaatgagggttgagttCtgcctgaaggatttctcaca	9	14	12	6	0	2	4	1	4	2	0	3	5	2	5	1	2	1	3	1	2	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:57646835C>G	ENST00000269834.1	-	5	1255	c.870G>C	c.(868-870)caG>caC	p.Q290H		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGTTGAGTTCTGCCTGAAGG	0.373													42	72					0	0	0	0	G	57646835	C	G	57646835	3	3	429	1	0	0	0	0	1	0	0	0	17780	912	32	2	552	2	ZIM3	19	57646835	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1343158	57646835	1482148	807	85074											
ZSCAN22	342945	broad.mit.edu	37	chr19	58846211	58846211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagcccagtgccgtgggaaGaggacagcttccttcaagtg	9	8	14	10	1	1	2	1	1	0	1	2	4	2	4	3	2	3	1	3	2	2	2	rs143306274	byFrequency	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:58846211G>C	ENST00000329665.4	+	2	190	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	15					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCCGTGGGAAGAGGACAGCTT	0.617													14	29					0	0	0	0	C	58846211	G	C	58846211	3	2	429	1	0	0	0	0	1	0	0	0	18326	943	33	2	45	2	ZSCAN22	19	58846211	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1199376	58846211	282772	808	85075											
SDCBP2	27111	broad.mit.edu	37	chr20	1293375	1293375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccacaagggatgcagggGtgttggcctggaccaactgc	8	6	15	12	0	0	0	0	0	0	0	0	2	0	2	4	5	3	2	4	5	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:1293375G>C	ENST00000360779.3	-	6	589	c.416C>G	c.(415-417)aCc>aGc	p.T139S	SDCBP2_ENST00000381812.1_Missense_Mutation_p.T139S|SDCBP2_ENST00000381808.3_Missense_Mutation_p.T54S|SDCBP2_ENST00000339987.3_Missense_Mutation_p.T139S	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	139	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GGATGCAGGGGTGTTGGCCTG	0.642													11	24					0	0	0	0	C	1293375	G	C	1293375	3	2	429	1	0	0	0	0	1	0	0	0	14043	1261	44	4	478	4	SDCBP2	20	1293375	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		1293375	61732145	809	85076											
NSFL1C	55968	broad.mit.edu	37	chr20	1438855	1438855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagactcacctctggccttCctcttcctcctcatcttcat	6	14	4	17	0	6	1	3	0	3	1	9	2	9	1	5	1	0	0	5	1	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:1438855C>T	ENST00000216879.4	-	3	1135	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	NSFL1C_ENST00000353088.2_Missense_Mutation_p.E90K|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E90K|NSFL1C_ENST00000381658.4_Silent_p.R10R|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E90K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	90	Poly-Glu.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTCTGGCCTTCCTCTTCCTCC	0.478													30	69					0	0	0	0	T	1438855	C	T	1438855	3	4	429	1	0	0	0	0	1	0	0	0	10743	864	30	2	872	2	NSFL1C	20	1438855	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	145480	1438855	61586665	810	85077											
SIRPA	140885	broad.mit.edu	37	chr20	1918023	1918023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaaggggaagaagcctgctCcccaggctgcggagcccaac	10	3	13	15	1	0	1	0	0	0	1	1	3	1	3	5	4	5	2	5	4	4	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:1918023C>T	ENST00000358771.4	+	8	1476	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	SIRPA_ENST00000400068.3_Missense_Mutation_p.P446S|SIRPA_ENST00000356025.3_Missense_Mutation_p.P442S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	442					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GAAGCCTGCTCCCCAGGCTGC	0.542													23	63					0	0	0	0	T	1918023	C	T	1918023	3	4	429	1	0	0	0	0	1	0	0	0	14420	855	30	2	1354	2	SIRPA	20	1918023	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	479168	1918023	61107497	811	85078											
PDYN	5173	broad.mit.edu	37	chr20	1961355	1961355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagacccctgagcttctcctCcaggctcttgctcagagtgt	6	11	10	14	0	3	3	1	1	2	2	5	4	4	3	4	1	2	3	4	1	0	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:1961355C>T	ENST00000217305.2	-	4	604	c.379G>A	c.(379-381)Gag>Aag	p.E127K	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.E127K|PDYN_ENST00000539905.1_Missense_Mutation_p.E127K	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	127					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTTCTCCTCCAGGCTCTTG	0.547													30	77					0	0	0	0	T	1961355	C	T	1961355	3	4	429	1	0	0	0	0	1	0	0	0	11770	864	30	2	389	2	PDYN	20	1961355	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	43332	1961355	61064165	812	85079											
PTPRA	5786	broad.mit.edu	37	chr20	3008372	3008372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggctaccggcagaaggactCctatatcgccagccagggcc	9	5	13	14	2	0	1	0	0	0	1	2	2	1	2	5	4	2	2	5	4	4	3	rs138028158	byFrequency	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:3008372C>G	ENST00000216877.6	+	19	2178	c.1778C>G	c.(1777-1779)tCc>tGc	p.S593C	PTPRA_ENST00000318266.5_Missense_Mutation_p.S593C|PTPRA_ENST00000380393.3_Missense_Mutation_p.S602C|PTPRA_ENST00000356147.3_Missense_Mutation_p.S593C|PTPRA_ENST00000425918.2_Missense_Mutation_p.S613C|PTPRA_ENST00000399903.2_Missense_Mutation_p.S602C|PTPRA_ENST00000358719.4_Missense_Mutation_p.S458C	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	602	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGGACTCCTATATCGCC	0.517													11	54					0	0	0	0	G	3008372	C	G	3008372	3	3	429	1	0	0	0	0	1	0	0	0	12877	855	30	2	1871	2	PTPRA	20	3008372	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1047017	3008372	60017148	813	85080											
SIGLEC1	6614	broad.mit.edu	37	chr20	3682042	3682042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaagggagttggtggctGagcacttgtactccccactg	7	11	12	11	0	0	1	0	1	0	0	2	2	2	2	3	3	2	4	3	3	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:3682042G>A	ENST00000344754.4	-	6	1474	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S492L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	492	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTTGGTGGCTGAGCACTTGTA	0.587													21	31					0	0	0	0	A	3682042	G	A	3682042	3	1	429	1	0	0	0	0	1	0	0	0	14393	1294	45	2	3718	2	SIGLEC1	20	3682042	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	673670	3682042	59343478	814	85081											
PANK2	80025	broad.mit.edu	37	chr20	3893244	3893244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatttatggaggggactatGagaggtttggactgccaggc	10	11	15	5	0	0	1	0	1	0	1	0	5	0	4	1	6	1	1	1	6	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:3893244G>C	ENST00000497424.1	+	4	813	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Missense_Mutation_p.E459Q	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	459					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGGGACTATGAGAGGTTTGG	0.502													27	74					0	0	0	0	C	3893244	G	C	3893244	3	2	429	1	0	0	0	0	1	0	0	0	11488	1291	45	2	1389	2	PANK2	20	3893244	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	211202	3893244	59132276	815	85082											
SLC23A2	9962	broad.mit.edu	37	chr20	4866542	4866542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgcaaaagcactggcctGaaacaggggtaacctaaaag	18	5	10	8	0	0	1	0	1	0	0	0	1	0	1	2	3	4	3	2	3	7	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:4866542G>C	ENST00000379333.1	-	7	888	c.496C>G	c.(496-498)Cag>Gag	p.Q166E	SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.Q166E	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	166					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACTGGCCTGAAACAGGGGT	0.433													10	18					0	0	0	0	C	4866542	G	C	4866542	3	2	429	1	0	0	0	0	1	0	0	0	14551	1299	45	2	1500	2	SLC23A2	20	4866542	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	973298	4866542	58158978	816	85083											
PCNA	5111	broad.mit.edu	37	chr20	5100331	5100331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtgggacgagtccatgctCtgcaggtttacaccgctgga	8	9	13	11	3	1	0	0	0	1	0	2	3	2	2	2	3	3	4	2	3	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:5100331C>T	ENST00000379160.3	-	2	356	c.114G>A	c.(112-114)caG>caA	p.Q38Q	PCNA_ENST00000379143.5_Silent_p.Q38Q	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	38	Interaction with NUDT15.				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						AGTCCATGCTCTGCAGGTTTA	0.607								DNA polymerases (catalytic subunits)					3	14					0	0	0	0	T	5100331	C	T	5100331	2	4	429	1	0	0	0	0	0	0	0	1	11659	912	32	2		2	PCNA	20	5100331	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	233789	5100331	57925189	817	85084											
NAPB	63908	broad.mit.edu	37	chr20	23358024	23358024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaacatttcattttaggtCtccatctccttctccatccc	10	15	2	14	0	4	0	1	0	3	0	8	0	5	0	4	1	1	0	4	1	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:23358024C>G	ENST00000377026.4	-	11	971	c.886G>C	c.(886-888)Gac>Cac	p.D296H	NAPB_ENST00000398425.3_Missense_Mutation_p.D202H|NAPB_ENST00000432543.2_Missense_Mutation_p.D257H	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	296					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CATTTTAGGTCTCCATCTCCT	0.428													7	21					0	0	0	0	G	23358024	C	G	23358024	3	3	429	1	0	0	0	0	1	0	0	0	10232	913	32	2	14	2	NAPB	20	23358024	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	18257693	23358024	39667496	818	85085											
CST8	10047	broad.mit.edu	37	chr20	23472305	23472305	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttgcccaagggaccAtgcccaggtgccggtggctc	5	8	13	15	1	1	0	0	0	1	0	2	1	1	1	5	4	4	1	5	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:23472305A>G	ENST00000246012.1	+	2	358	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	1						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCAAGGGACCATGCCCAGGTG	0.617													5	112					0	0	0	0	G	23472305	A	G	23472305	1	3	429	1	0	0	0	0	0	0	0	0	4010	217	8	5		5	CST8	20	23472305	Translation_Start_Site	SNP	A	TCGA-HL-7533-01A-11D-2229-08	114281	23472305	39553215	819	85086											
CST3	1471	broad.mit.edu	37	chr20	23615961	23615961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtcttggtacacgtggttCggcccagctccacgtccaag	6	9	13	13	3	1	0	0	0	1	0	4	0	3	0	3	4	2	3	3	4	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:23615961C>T	ENST00000398411.1	-	2	369	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	CST3_ENST00000398409.1_Missense_Mutation_p.R96Q|CST3_ENST00000376925.3_Missense_Mutation_p.R96Q			P01034	CYTC_HUMAN	cystatin C	96					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ACACGTGGTTCGGCCCAGCTC	0.537													5	38					0	0	0	0	T	23615961	C	T	23615961	3	4	429	1	0	0	0	0	1	0	0	0	4005	884	31	1	161	1	CST3	20	23615961	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	143656	23615961	39409559	820	85087											
DEFB116	245930	broad.mit.edu	37	chr20	29891241	29891241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcggctcttgccattgtggGatctgaacaggccacctggg	6	10	13	12	1	2	1	0	1	2	0	3	2	2	2	3	4	2	1	3	4	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:29891241G>A	ENST00000400549.1	-	2	82	c.83C>T	c.(82-84)tCc>tTc	p.S28F		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	28					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCATTGTGGGATCTGAACAG	0.468													11	105					0	0	0	0	A	29891241	G	A	29891241	3	1	429	1	0	0	0	0	1	0	0	0	4441	1174	41	2	228	2	DEFB116	20	29891241	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6275280	29891241	33134279	821	85088											
PXMP4	11264	broad.mit.edu	37	chr20	32295530	32295530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattaattggagggacggctCttgttatagacgaggaagtc	11	11	13	6	2	1	1	0	0	1	1	2	5	1	4	0	4	0	2	0	4	4	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:32295530C>G	ENST00000409299.3	-	4	713	c.621G>C	c.(619-621)aaG>aaC	p.K207N	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	207						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AGGGACGGCTCTTGTTATAGA	0.537													30	58					0	0	0	0	G	32295530	C	G	32295530	3	3	429	1	0	0	0	0	1	0	0	0	12933	912	32	2	21	2	PXMP4	20	32295530	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2404289	32295530	30729990	822	85089											
NCOA6	23054	broad.mit.edu	37	chr20	33329793	33329793	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctggcaatcactgtcctGaggcacattcaagctctcct	9	12	7	13	0	4	1	2	1	2	0	6	1	5	1	2	2	1	3	2	2	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:33329793G>A	ENST00000374796.2	-	12	6837	c.4267C>T	c.(4267-4269)Cag>Tag	p.Q1423*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1423*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1423					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCACTGTCCTGAGGCACATTC	0.463													30	63					0	0	0	0	A	33329793	G	A	33329793	4	1	429	1	0	0	0	0	0	1	0	0	10303	1299	45	2	1944	2	NCOA6	20	33329793	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1034263	33329793	29695727	823	85090											
MYH7B	57644	broad.mit.edu	37	chr20	33588931	33588931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggccgccctccgtggcggGaagaagcaggtgcagaagct	9	4	16	12	3	0	2	0	0	0	2	1	3	1	3	3	4	3	3	3	4	3	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:33588931G>A	ENST00000262873.7	+	39	5663	c.5571G>A	c.(5569-5571)ggG>ggA	p.G1857G		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1815						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCCGTGGCGGGAAGAAGCAGG	0.657													19	25					0	0	0	0	A	33588931	G	A	33588931	2	1	429	1	0	0	0	0	0	0	0	1	10110	1161	41	2		2	MYH7B	20	33588931	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	259138	33588931	29436589	824	85091											
EIF6	3692	broad.mit.edu	37	chr20	33872098	33872098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcggtggtggcggggcaGaggggccggcaccctcccac	5	4	18	14	3	0	1	0	0	0	1	2	2	1	1	3	8	0	2	3	8	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:33872098G>A	ENST00000374443.3	-	2	242	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	EIF6_ENST00000374436.3_Intron|EIF6_ENST00000374450.3_Intron|EIF6_ENST00000462894.1_Intron	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	65					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGCGGGGCAGAGGGGCCGGC	0.687													55	96					0	0	0	0	A	33872098	G	A	33872098	2	1	429	1	0	0	0	0	0	0	0	1	5083	933	33	2		2	EIF6	20	33872098	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	283167	33872098	29153422	825	85092											
CEP250	11190	broad.mit.edu	37	chr20	34067824	34067824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtgaggtgcctgaagctgGaactggacactgaacggagt	12	7	15	7	1	0	3	0	3	0	0	0	6	0	6	1	4	4	1	1	4	4	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:34067824G>A	ENST00000397527.1	+	20	3160	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.E814K|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	814	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTGAAGCTGGAACTGGACAC	0.582													20	59					0	0	0	0	A	34067824	G	A	34067824	3	1	429	1	0	0	0	0	1	0	0	0	3281	1175	41	2	2506	2	CEP250	20	34067824	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	195726	34067824	28957696	826	85093											
EPB41L1	2036	broad.mit.edu	37	chr20	34797520	34797520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggagagggacacggtgttCctgaaggacaaccacctggc	11	5	14	11	1	0	2	0	1	0	1	1	5	1	4	3	5	1	1	3	5	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:34797520C>T	ENST00000338074.2	+	15	1940	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Silent_p.F593F|EPB41L1_ENST00000373950.2_Silent_p.F484F|EPB41L1_ENST00000441639.1_Silent_p.F519F|EPB41L1_ENST00000202028.5_Silent_p.F519F|EPB41L1_ENST00000479336.1_3'UTR	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	593					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACACGGTGTTCCTGAAGGACA	0.607													20	28					0	0	0	0	T	34797520	C	T	34797520	2	4	429	1	0	0	0	0	0	0	0	1	5190	854	30	2		2	EPB41L1	20	34797520	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	729696	34797520	28228000	827	85094											
NDRG3	57446	broad.mit.edu	37	chr20	35317187	35317187	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agttgtttctatatcatgttCctgtaacaagagaatgtaag	13	15	8	5	0	2	1	1	0	1	1	3	2	3	1	1	0	1	5	1	0	6	7			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:35317187C>G	ENST00000373803.2	-	4	150	c.93_splice	c.e4-1	p.E32_splice	NDRG3_ENST00000359675.2_Splice_Site_p.E20_splice|NDRG3_ENST00000349004.1_Splice_Site_p.E32_splice|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000540765.1_Intron			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	32				E -> G (in Ref. 3; AAL08807).	cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				ATATCATGTTCCTGTAACAAG	0.423													28	36					0	0	0	0	G	35317187	C	G	35317187	5	3	429	1	0	0	0	0	0	0	1	0	10323	869	30	2	1085	2	NDRG3	20	35317187	Splice_Site	SNP	C	TCGA-HL-7533-01A-11D-2229-08	519667	35317187	27708333	828	85095											
KIAA1755	85449	broad.mit.edu	37	chr20	36846669	36846669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctggaggaagaagttctCaaattctgcgtgggctttct	9	12	12	8	1	3	1	1	0	3	1	4	3	3	3	1	3	2	2	1	3	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:36846669C>G	ENST00000279024.4	-	12	2927	c.2656G>C	c.(2656-2658)Gag>Cag	p.E886Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	886										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGAAGTTCTCAAATTCTGCG	0.577													20	59					0	0	0	0	G	36846669	C	G	36846669	3	3	429	1	0	0	0	0	1	0	0	0	8308	835	29	2	958	2	KIAA1755	20	36846669	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1529482	36846669	26178851	829	85096											
LBP	3929	broad.mit.edu	37	chr20	36993286	36993286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctccttgctgcagtcatGagccttcctgaggaacacaa	10	9	8	14	0	1	2	1	2	0	0	3	3	3	3	4	1	4	2	4	1	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:36993286G>A	ENST00000217407.2	+	8	962	c.801G>A	c.(799-801)atG>atA	p.M267I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	267				VMSLP -> A (in Ref. 1; AAA59493).	acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCAGTCATGAGCCTTCCTG	0.463													46	105					0	0	0	0	A	36993286	G	A	36993286	3	1	429	1	0	0	0	0	1	0	0	0	8704	1290	45	2	831	2	LBP	20	36993286	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	146617	36993286	26032234	830	85097											
DHX35	60625	broad.mit.edu	37	chr20	37639041	37639041	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtcctcaggttccacttCatgtcggtaagtcctgcctg	7	13	9	12	1	2	0	2	0	0	0	6	0	5	0	4	2	1	2	4	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:37639041C>T	ENST00000252011.3	+	13	1374	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	DHX35_ENST00000373325.2_Silent_p.F447F|DHX35_ENST00000373323.4_Silent_p.F416F	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	447						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGTTCCACTTCATGTCGGTAA	0.527													18	30					0	0	0	0	T	37639041	C	T	37639041	2	4	429	1	0	0	0	0	0	0	0	1	4545	825	29	2		2	DHX35	20	37639041	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	645755	37639041	25386479	831	85098											
HNF4A	3172	broad.mit.edu	37	chr20	43043206	43043206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcgaagaagattgccagcatCgcagatgtgtgtgagtccat	11	9	13	8	2	0	4	0	1	0	3	2	5	1	4	2	0	2	2	2	0	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:43043206C>G	ENST00000316099.3	+	5	641	c.552C>G	c.(550-552)atC>atG	p.I184M	HNF4A_ENST00000415691.1_Missense_Mutation_p.I184M|HNF4A_ENST00000443598.2_Missense_Mutation_p.I184M|HNF4A_ENST00000457232.1_Missense_Mutation_p.I162M	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	184					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTGCCAGCATCGCAGATGTGT	0.572													13	34					0	0	0	0	G	43043206	C	G	43043206	3	3	429	1	0	0	0	0	1	0	0	0	7303	874	31	3	623	3	HNF4A	20	43043206	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	5404165	43043206	19982314	832	85099											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506830	44506830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctcaccaggttagcaaaGatggctgtagctgcagctgt	10	10	11	10	0	1	1	1	0	1	1	2	1	1	1	1	2	4	7	1	2	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:44506830G>C	ENST00000255152.2	+	2	1842	c.1633G>C	c.(1633-1635)Gat>Cat	p.D545H	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.D539H	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	545							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGTTAGCAAAGATGGCTGTAG	0.557													17	34					0	0	0	0	C	44506830	G	C	44506830	3	2	429	1	0	0	0	0	1	0	0	0	18333	942	33	2	1639	2	ZSWIM3	20	44506830	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	1463624	44506830	18518690	833	85100											
ZNF335	63925	broad.mit.edu	37	chr20	44588038	44588038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcttgtgccgtgtgctGaagtggcagtactcacaggc	6	13	12	10	1	3	1	1	1	2	0	3	1	3	1	1	2	3	3	1	2	2	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:44588038G>A	ENST00000322927.2	-	15	2155	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F	ZNF335_ENST00000426788.1_Silent_p.F530F	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCCGTGTGCTGAAGTGGCAGT	0.637													14	26					0	0	0	0	A	44588038	G	A	44588038	2	1	429	1	0	0	0	0	0	0	0	1	17947	1281	45	2		2	ZNF335	20	44588038	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	81208	44588038	18437482	834	85101											
SLC12A5	57468	broad.mit.edu	37	chr20	44664081	44664081	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatggtgtcctccttgctCagtggcctggccaactacac	6	11	9	15	0	1	0	1	0	0	0	3	0	3	0	5	3	3	1	5	3	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:44664081C>G	ENST00000454036.1	+	3	331	c.255C>G	c.(253-255)ctC>ctG	p.L85L	SLC12A5_ENST00000539566.1_Silent_p.L62L|SLC12A5_ENST00000243964.3_Silent_p.L62L|SLC12A5_ENST00000372315.1_Silent_p.L62L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	85					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTCCTTGCTCAGTGGCCTGG	0.587													4	177					0	0	0	0	G	44664081	C	G	44664081	2	3	429	1	0	0	0	0	0	0	0	1	14474	813	29	2		2	SLC12A5	20	44664081	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	76043	44664081	18361439	835	85102											
FAM65C	140876	broad.mit.edu	37	chr20	49208922	49208922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactgcaccagccaggcGagcgctggccgccctgcaca	7	4	12	18	3	0	1	0	1	0	0	0	2	0	1	5	2	4	3	5	2	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:49208922G>T	ENST00000327979.2	-	19	2935	c.2524C>A	c.(2524-2526)Cgc>Agc	p.R842S	FAM65C_ENST00000045083.2_Missense_Mutation_p.R842S|FAM65C_ENST00000535356.1_Missense_Mutation_p.R846S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	842										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCCAGGCGAGCGCTGGCC	0.652													22	45					2.70639e-06	2.75244e-06	1	0	T	49208922	G	T	49208922	3	4	429	1	0	0	0	0	1	0	0	0	5647	1058	37	3	332	3	FAM65C	20	49208922	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	4544841	49208922	13816598	836	85103											
ATP9A	10079	broad.mit.edu	37	chr20	50292704	50292704	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttgaggtattcatgacactCcggagttctctgccagtgta	8	14	10	9	1	2	2	1	2	1	0	4	3	3	3	2	2	1	3	2	2	2	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:50292704C>G	ENST00000338821.5	-	10	1107	c.843G>C	c.(841-843)cgG>cgC	p.R281R	ATP9A_ENST00000311637.5_Silent_p.R145R|ATP9A_ENST00000402822.1_Silent_p.R160R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	281					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATGACACTCCGGAGTTCTC	0.438													24	29					0	0	0	0	G	50292704	C	G	50292704	2	3	429	1	0	0	0	0	0	0	0	1	1202	842	30	2		2	ATP9A	20	50292704	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1083782	50292704	12732816	837	85104											
RPS21	6227	broad.mit.edu	37	chr20	60963404	60963404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctccgattggccaaggccGatggcatcgtctcaaagtaa	10	10	10	11	3	2	0	1	0	2	0	5	2	2	0	3	3	0	2	3	3	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:60963404G>A	ENST00000450116.2	+	4	247	c.226G>A	c.(226-228)Gat>Aat	p.D76N	RPS21_ENST00000343986.4_Missense_Mutation_p.D76N|RPS21_ENST00000370562.1_3'UTR|RPS21_ENST00000492356.2_3'UTR			P63220	RS21_HUMAN	ribosomal protein S21	76					endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCAAGGCCGATGGCATCGT	0.493													13	32					0	0	0	0	A	60963404	G	A	60963404	3	1	429	1	0	0	0	0	1	0	0	0	13718	1058	37	1	240	1	RPS21	20	60963404	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10670700	60963404	2062116	838	85105											
DIDO1	11083	broad.mit.edu	37	chr20	61512069	61512069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaccctgaaacgggggctGagagccccccactttctgtc	7	8	11	15	1	1	3	0	3	1	1	2	4	1	3	4	2	2	1	4	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:61512069G>A	ENST00000266070.4	-	16	5564	c.5239C>T	c.(5239-5241)Cag>Tag	p.Q1747*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1747*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1747	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.Q1747E(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACGGGGGCTGAGAGCCCCCC	0.682													24	80					0	0	0	0	A	61512069	G	A	61512069	4	1	429	1	0	0	0	0	0	1	0	0	4559	1299	45	2	1487	2	DIDO1	20	61512069	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	548665	61512069	1513451	839	85106											
RTEL1	51750	broad.mit.edu	37	chr20	62321792	62321792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcctgaagcagaggtcctCaggtgcggacgggcagcgct	8	5	16	12	3	1	2	1	1	0	1	2	3	2	3	2	4	4	3	2	4	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:62321792C>T	ENST00000318100.4	+	26	3238	c.2411C>T	c.(2410-2412)tCa>tTa	p.S804L	RTEL1_ENST00000370003.1_Missense_Mutation_p.S49L|RTEL1_ENST00000370018.3_Missense_Mutation_p.S804L|RTEL1_ENST00000508582.2_Missense_Mutation_p.S828L|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S804L|RTEL1_ENST00000360203.5_Missense_Mutation_p.S804L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	804					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGAGGTCCTCAGGTGCGGAC	0.697													11	14					0	0	0	0	T	62321792	C	T	62321792	3	4	429	1	0	0	0	0	1	0	0	0	13805	838	29	2	2509	2	RTEL1	20	62321792	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	809723	62321792	703728	840	85107											
ZGPAT	84619	broad.mit.edu	37	chr20	62340463	62340463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccccactcacaagtctctGaagccgtgcccgttcttcct	7	11	6	17	2	3	1	1	1	2	0	5	1	4	1	5	0	3	1	5	0	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:62340463G>A	ENST00000328969.5	+	2	658	c.531G>A	c.(529-531)ctG>ctA	p.L177L	ZGPAT_ENST00000369967.3_Silent_p.L177L|ZGPAT_ENST00000357119.4_Silent_p.L177L|ZGPAT_ENST00000448100.1_Silent_p.L177L|ZGPAT_ENST00000355969.6_Silent_p.L177L|ZGPAT_ENST00000490623.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	177					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ACAAGTCTCTGAAGCCGTGCC	0.572													40	90					0	0	0	0	A	62340463	G	A	62340463	2	1	429	1	0	0	0	0	0	0	0	1	17769	1277	45	2		2	ZGPAT	20	62340463	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	18671	62340463	685057	841	85108											
NRIP1	8204	broad.mit.edu	37	chr21	16338838	16338838	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagaccctgctttgcttGatgtaagtaaaggtggagtg	9	12	15	5	0	0	2	0	1	0	1	0	4	0	3	1	3	2	4	1	3	3	4			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr21:16338838G>C	ENST00000400202.1	-	3	2388	c.1676C>G	c.(1675-1677)tCa>tGa	p.S559*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S559*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S559*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	559	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGCTTTGCTTGATGTAAGTAA	0.438													25	222					0	0	0	0	C	16338838	G	C	16338838	4	2	429	1	0	0	0	0	0	1	0	0	10723	1294	45	2	1804	2	NRIP1	21	16338838	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		16338838	31791057	842	85109											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812702	31812702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgttttggaagttacctGaggtatccagtttccactta	8	16	9	8	0	0	1	0	1	0	0	2	2	2	2	3	2	2	5	3	2	4	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr21:31812702G>A	ENST00000334067.3	+	1	106	c.57G>A	c.(55-57)ctG>ctA	p.L19L		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	19						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GAAGTTACCTGAGGTATCCAG	0.468													27	56					0	0	0	0	A	31812702	G	A	31812702	2	1	429	1	0	0	0	0	0	0	0	1	8578	1277	45	2		2	KRTAP15-1	21	31812702	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	15473864	31812702	16317193	843	85110											
HMGN1	3150	broad.mit.edu	37	chr21	40720242	40720242	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctgcctttttcggcttCgcttccacttttgcaggagg	3	15	11	12	2	0	0	0	0	0	0	3	1	1	1	2	3	3	5	2	3	0	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr21:40720242C>T	ENST00000380749.5	-	4	384	c.102G>A	c.(100-102)gcG>gcA	p.A34A	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_Silent_p.A50A|HMGN1_ENST00000380748.1_Silent_p.A24A	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	34					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTTTCGGCTTCGCTTCCACTT	0.562													36	79					0	0	0	0	T	40720242	C	T	40720242	2	4	429	1	0	0	0	0	0	0	0	1	7284	871	31	1		1	HMGN1	21	40720242	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	8907540	40720242	7409653	844	85111											
TFF1	7031	broad.mit.edu	37	chr21	43786545	43786545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcctcggccagggtgccGagggccagcatggacaccag	7	4	17	13	2	0	0	0	0	0	0	1	2	0	1	5	5	2	1	5	5	0	0	rs142874600		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr21:43786545G>A	ENST00000291527.2	-	1	158	c.60C>T	c.(58-60)ctC>ctT	p.L20L		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	20					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity	p.L20L(1)		cervix(1)|lung(1)	2						CCAGGGTGCCGAGGGCCAGCA	0.637													9	18					0	0	0	0	A	43786545	G	A	43786545	2	1	429	1	0	0	0	0	0	0	0	1	15897	1045	37	1		1	TFF1	21	43786545	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	3066303	43786545	4343350	845	85112											
CECR2	27443	broad.mit.edu	37	chr22	17978481	17978481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgtgtggagccattgggtGaagacaattctggggcacta	9	10	14	8	1	1	2	0	1	1	1	2	3	2	3	2	4	1	1	2	4	3	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:17978481G>A	ENST00000262608.8	+	3	322	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.E127K|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.E107K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	149					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCATTGGGTGAAGACAATTC	0.488													16	42					0	0	0	0	A	17978481	G	A	17978481	3	1	429	1	0	0	0	0	1	0	0	0	3235	1291	45	2	331	2	CECR2	22	17978481	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08		17978481	33326085	846	85113											
CECR2	27443	broad.mit.edu	37	chr22	17978563	17978563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgcaaggaaaatccaatgGagaactctctttgagcaggt	13	9	12	7	0	1	2	0	1	1	1	3	4	2	3	1	4	3	2	1	4	5	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:17978563G>A	ENST00000262608.8	+	3	404	c.404G>A	c.(403-405)gGa>gAa	p.G135E	CECR2_ENST00000400573.4_Missense_Mutation_p.G154E|CECR2_ENST00000400585.2_Missense_Mutation_p.G13E|CECR2_ENST00000342247.5_Missense_Mutation_p.G134E	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	176					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AAATCCAATGGAGAACTCTCT	0.408													6	23					0	0	0	0	A	17978563	G	A	17978563	3	1	429	1	0	0	0	0	1	0	0	0	3235	1174	41	2	413	2	CECR2	22	17978563	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	82	17978563	33326003	847	85114											
BCL2L13	23786	broad.mit.edu	37	chr22	18185157	18185157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcaaggtggctgggtatGagctgttatatattaaaaat	13	13	11	4	0	1	1	1	1	0	0	1	1	1	1	0	3	2	5	0	3	8	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:18185157G>A	ENST00000493680.1	+	6	770	c.605G>A	c.(604-606)tGa>tAa	p.*202*	BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000317582.5_Intron|BCL2L13_ENST00000399782.1_Silent_p.*202*|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000337612.5_Intron			Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	0					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GGCTGGGTATGAGCTGttata	0.433													6	17					0	0	0	0	A	18185157	G	A	18185157	2	1	429	1	0	0	0	0	0	0	0	1	1375	1305	45	2		2	BCL2L13	22	18185157	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	206594	18185157	33119409	848	85115											
MICAL3	57553	broad.mit.edu	37	chr22	18304874	18304874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagctctgcttccccctCagctgggcacggcaaacgca	7	7	9	18	2	2	0	1	0	1	0	4	0	4	0	3	2	4	6	3	2	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:18304874C>T	ENST00000441493.2	-	24	3722	c.3370G>A	c.(3370-3372)Gag>Aag	p.E1124K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1124	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCTTCCCCCTCAGCTGGGCAC	0.612													13	99					0	0	0	0	T	18304874	C	T	18304874	3	4	429	1	0	0	0	0	1	0	0	0	9640	835	29	2	2674	2	MICAL3	22	18304874	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	119717	18304874	32999692	849	85116											
TRMT2A	27037	broad.mit.edu	37	chr22	20100994	20100994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgggcgtcctccacagcctCtgggcatagctcgaccccaa	7	6	10	18	3	1	0	0	0	1	0	4	1	3	0	6	2	2	2	6	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:20100994C>G	ENST00000252136.7	-	9	1781	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	TRMT2A_ENST00000439169.2_Missense_Mutation_p.E483Q|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E465Q|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E465Q	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	465					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TCCACAGCCTCTGGGCATAGC	0.662													12	31					0	0	0	0	G	20100994	C	G	20100994	3	3	429	1	0	0	0	0	1	0	0	0	16660	922	32	2	500	2	TRMT2A	22	20100994	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1796120	20100994	31203572	850	85117											
RIMBP3	85376	broad.mit.edu	37	chr22	20457101	20457101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgctgtggggctcaggctCcctcctctcctctcgcctct	1	12	9	19	1	4	0	1	0	3	0	8	0	6	0	5	3	1	3	5	3	0	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:20457101C>T	ENST00000426804.1	-	1	4685	c.4201G>A	c.(4201-4203)Gag>Aag	p.E1401K		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCTCAGGCTCCCTCCTCTCC	0.597													7	46					0	0	0	0	T	20457101	C	T	20457101	3	4	429	1	0	0	0	0	1	0	0	0	13447	864	30	2	722	2	RIMBP3	22	20457101	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	356107	20457101	30847465	851	85118											
P2RX6	9127	broad.mit.edu	37	chr22	21377815	21377815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggtggctctgtaggcatCagagttcactgggattgtga	8	11	15	7	0	3	2	2	1	1	1	3	3	3	3	0	4	0	4	0	4	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:21377815C>T	ENST00000413302.2	+	8	946	c.798C>T	c.(796-798)atC>atT	p.I266I	P2RX6_ENST00000443995.3_Silent_p.I213I|P2RX6_ENST00000336296.2_Silent_p.I256I|P2RX6_ENST00000401443.1_Silent_p.I240I|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	266					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CTGTAGGCATCAGAGTTCACT	0.602													7	7					0	0	0	0	T	21377815	C	T	21377815	2	4	429	1	0	0	0	0	0	0	0	1	11415	816	29	2		2	P2RX6	22	21377815	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	920714	21377815	29926751	852	85119											
GSTT2B	653689	broad.mit.edu	37	chr22	24300609	24300609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgttgcgttccaccttctCctcgggcacctggaccccaa	5	10	8	18	2	1	0	0	0	1	0	4	1	2	1	7	2	1	3	7	2	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:24300609C>G	ENST00000290765.4	-	4	442	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	GSTT2B_ENST00000404172.3_Missense_Mutation_p.E130Q	NM_001080843.2	NP_001074312.1			glutathione S-transferase theta 2B (gene/pseudogene)																		TCCACCTTCTCCTCGGGCACC	0.642													7	17					0	0	0	0	G	24300609	C	G	24300609	3	3	429	1	0	0	0	0	1	0	0	0	6897	864	30	2	354	2	GSTT2B	22	24300609	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2922794	24300609	27003957	853	85120											
KCNJ4	3761	broad.mit.edu	37	chr22	38823412	38823412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgatgtcatagcccacgttGaggtcccgctggtccagggg	6	8	14	13	3	1	1	1	1	0	0	3	2	3	1	4	4	1	2	4	4	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:38823412G>A	ENST00000303592.3	-	2	984	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	242					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGCCCACGTTGAGGTCCCGCT	0.622													17	45					0	0	0	0	A	38823412	G	A	38823412	2	1	429	1	0	0	0	0	0	0	0	1	8106	1277	45	2		2	KCNJ4	22	38823412	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	14522803	38823412	12481154	854	85121											
KCNJ4	3761	broad.mit.edu	37	chr22	38823925	38823925	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagaggaggccgaaaaaGagccaggagacaaggaaggc	18	0	16	7	1	0	4	0	0	0	4	0	8	0	6	2	5	1	0	2	5	5	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:38823925G>C	ENST00000303592.3	-	2	471	c.213C>G	c.(211-213)ctC>ctG	p.L71L		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	71					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCCGAAAAAGAGCCAGGAGA	0.662													25	43					0	0	0	0	C	38823925	G	C	38823925	2	2	429	1	0	0	0	0	0	0	0	1	8106	929	33	2		2	KCNJ4	22	38823925	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	513	38823925	12480641	855	85122											
SUN2	25777	broad.mit.edu	37	chr22	39148610	39148610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccctgggagtagcgcgtGaggcgctggcttcttcggga	5	9	16	11	4	2	1	1	1	1	0	3	3	2	3	1	4	1	3	1	4	1	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:39148610G>A	ENST00000405510.1	-	3	382	c.24C>T	c.(22-24)ctC>ctT	p.L8L	SUN2_ENST00000411587.2_Silent_p.L43L|SUN2_ENST00000406622.1_Silent_p.L8L|SUN2_ENST00000216064.4_Silent_p.L8L|SUN2_ENST00000405018.1_Silent_p.L8L	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	8	LMNA-binding (By similarity).|Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AGTAGCGCGTGAGGCGCTGGC	0.597													4	23					0	0	0	0	A	39148610	G	A	39148610	2	1	429	1	0	0	0	0	0	0	0	1	15482	1277	45	2		2	SUN2	22	39148610	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	324685	39148610	12155956	856	85123											
ADSL	158	broad.mit.edu	37	chr22	40750320	40750320	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctacccacattaggtttCacacatttccagtaagtgat	12	13	6	10	0	2	1	1	1	1	0	3	1	3	1	2	1	1	2	2	1	3	5			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:40750320C>G	ENST00000216194.7	+	4	527	c.471C>G	c.(469-471)ttC>ttG	p.F157L	ADSL_ENST00000342312.6_Missense_Mutation_p.F157L|ADSL_ENST00000454266.2_Missense_Mutation_p.F171L	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	157					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CATTAGGTTTCACACATTTCC	0.423													64	132					0	0	0	0	G	40750320	C	G	40750320	3	3	429	1	0	0	0	0	1	0	0	0	346	825	29	2	485	2	ADSL	22	40750320	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1601710	40750320	10554246	857	85124											
MCHR1	2847	broad.mit.edu	37	chr22	41075673	41075673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggatggacctggaagcctCgctgctgcccactggtccca	6	8	12	15	1	0	0	0	0	0	0	2	3	1	3	4	4	3	2	4	4	1	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:41075673C>T	ENST00000249016.4	+	1	920	c.224C>T	c.(223-225)tCg>tTg	p.S75L	MCHR1_ENST00000381433.2_Missense_Mutation_p.S75L|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	75					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CTGGAAGCCTCGCTGCTGCCC	0.677													25	65					0	0	0	0	T	41075673	C	T	41075673	3	4	429	1	0	0	0	0	1	0	0	0	9451	893	31	1	226	1	MCHR1	22	41075673	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	325353	41075673	10228893	858	85125											
ARFGAP3	26286	broad.mit.edu	37	chr22	43230280	43230280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgagaggcaaaaaaatcttCctcctttggtggaggggaca	12	9	13	7	0	1	1	0	1	1	1	3	4	3	3	2	5	0	1	2	5	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:43230280C>T	ENST00000263245.5	-	5	664	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.E105K|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	149					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						AAAAAATCTTCCTCCTTTGGT	0.413													48	136					0	0	0	0	T	43230280	C	T	43230280	3	4	429	1	0	0	0	0	1	0	0	0	853	864	30	2	1153	2	ARFGAP3	22	43230280	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	2154607	43230280	8074286	859	85126											
TTLL12	23170	broad.mit.edu	37	chr22	43575868	43575868	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgtccaggtccctcaGgggccacagcagcgtgtagg	7	6	15	13	1	1	0	1	0	0	0	3	0	3	0	4	4	2	2	4	4	1	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:43575868G>A	ENST00000216129.6	-	4	748	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	229					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				AGGTCCCTCAGGGGCCACAGC	0.672													21	50					0	0	0	0	A	43575868	G	A	43575868	2	1	429	1	0	0	0	0	0	0	0	1	16821	991	35	4		4	TTLL12	22	43575868	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	345588	43575868	7728698	860	85127											
ALG12	79087	broad.mit.edu	37	chr22	50298025	50298025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgcagcctctgcattgcGacgccacctgggtagttgaa	7	10	13	11	2	1	1	0	1	1	0	1	2	1	1	3	2	4	4	3	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:50298025G>A	ENST00000330817.5	-	8	1395	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	374					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGCATTGCGACGCCACCTG	0.642													24	43					0	0	0	0	A	50298025	G	A	50298025	2	1	429	1	0	0	0	0	0	0	0	1	514	1045	37	1		1	ALG12	22	50298025	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6722157	50298025	1006541	861	85128											
MOV10L1	54456	broad.mit.edu	37	chr22	50591518	50591518	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtcccacgaggccctgctGatgctgccctcacggctgtt	4	9	12	16	3	1	1	1	1	0	0	2	2	2	1	3	3	3	4	3	3	0	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:50591518G>A	ENST00000262794.5	+	22	3020	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	MOV10L1_ENST00000354853.2_Silent_p.L22L|MOV10L1_ENST00000395852.1_Silent_p.L106L|MOV10L1_ENST00000395843.1_Silent_p.L22L|MOV10L1_ENST00000395858.3_Silent_p.L979L|MOV10L1_ENST00000545383.1_Silent_p.L979L|MOV10L1_ENST00000540615.1_Silent_p.L959L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	979					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGGCCCTGCTGATGCTGCCCT	0.592													41	82					0	0	0	0	A	50591518	G	A	50591518	2	1	429	1	0	0	0	0	0	0	0	1	9789	1277	45	2		2	MOV10L1	22	50591518	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	293493	50591518	713048	862	85129											
PLXNB2	23654	broad.mit.edu	37	chr22	50728135	50728135	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgctgaagacagcataTagcaccctgccagagccagg	11	7	10	13	0	1	3	0	1	1	2	2	3	1	3	3	1	5	3	3	1	3	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:50728135T>C	ENST00000449103.1	-	3	1019	c.879A>G	c.(877-879)ctA>ctG	p.L293L	PLXNB2_ENST00000359337.4_Silent_p.L293L			O15031	PLXB2_HUMAN	plexin B2	293	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGACAGCATATAGCACCCTGC	0.682													21	49					0	0	0	0	C	50728135	T	C	50728135	2	2	429	1	0	0	0	0	0	0	0	1	12196	1393	49	5		5	PLXNB2	22	50728135	Silent	SNP	T	TCGA-HL-7533-01A-11D-2229-08	136617	50728135	576431	863	85130											
PPP2R3B	28227	broad.mit.edu	37	chrX	299394	299394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaggatgtcgtactcctCggccgcgtacttctcccagt	6	10	9	16	4	1	0	0	0	1	0	5	1	2	1	4	2	2	2	4	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:299394C>T	ENST00000390665.3	-	12	1540	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	508					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGTACTCCTCGGCCGCGTAC	0.711													10	23					0	0	0	0	T	299394	C	T	299394	3	4	429	1	0	0	0	0	1	0	0	0	12465	893	31	1	213	1	PPP2R3B	23	299394	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08		299394	154971166	864	85131											
CRLF2	64109	broad.mit.edu	37	chrX	1317428	1317428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaagcattaccccgaatctCgcctctctgccagcatgtca	10	9	6	16	2	3	0	1	0	2	0	5	1	3	0	4	0	4	2	4	0	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:1317428C>T	ENST00000381567.3	-	5	636	c.637G>A	c.(637-639)Gag>Aag	p.E213K	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	213						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCCGAATCTCGCCTCTCTGC	0.567			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								49	96					0	0	0	0	T	1317428	C	T	1317428	3	4	429	1	0	0	0	0	1	0	0	0	3917	893	31	1	144	1	CRLF2	23	1317428	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1018034	1317428	153953132	865	85132											
MAP3K15	389840	broad.mit.edu	37	chrX	19449572	19449572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaccactcaatggcgctgtCgcggctggtgtcatctttgc	5	13	11	12	3	3	0	2	0	1	0	4	0	3	0	1	3	2	2	1	3	2	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:19449572C>T	ENST00000338883.4	-	7	1149	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D216N|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	384							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATGGCGCTGTCGCGGCTGGTG	0.522													19	11					0	0	0	0	T	19449572	C	T	19449572	3	4	429	1	0	0	0	0	1	0	0	0	9318	884	31	1	2883	1	MAP3K15	23	19449572	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	18132144	19449572	135820988	866	85133											
MAP3K15	389840	broad.mit.edu	37	chrX	19449587	19449587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtcgcggctggtgtcatCtttgcagtctgaatccaaga	7	12	12	10	2	3	2	1	1	2	1	5	2	4	2	1	2	1	3	1	2	2	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:19449587C>T	ENST00000338883.4	-	7	1134	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D211N|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	379							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGTCATCTTTGCAGTCT	0.532													25	13					0	0	0	0	T	19449587	C	T	19449587	3	4	429	1	0	0	0	0	1	0	0	0	9318	913	32	2	2898	2	MAP3K15	23	19449587	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	15	19449587	135820973	867	85134											
DMD	1756	broad.mit.edu	37	chrX	32404565	32404565	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcagacttcacttcactCagacttttatacaagttcta	12	15	3	11	0	5	2	4	0	1	2	5	2	5	2	0	0	1	1	0	0	4	8			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:32404565C>G	ENST00000357033.4	-	33	4742	c.4536G>C	c.(4534-4536)ctG>ctC	p.L1512L	DMD_ENST00000378677.2_Silent_p.L1508L	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	1512	Interaction with SYNM (By similarity).				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			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)				TCACTTCACTCAGACTTTTAT	0.303													14	11					0	0	0	0	G	32404565	C	G	32404565	2	3	429	1	0	0	0	0	0	0	0	1	4617	813	29	2		2	DMD	23	32404565	Silent	SNP	C	TCGA-HL-7533-01A-11D-2229-08	12954978	32404565	122865995	868	85135											
USP9X	8239	broad.mit.edu	37	chrX	41027443	41027443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtgacagtgattatcatGaggaaagaacaattctccct	15	11	8	7	0	2	4	1	3	1	1	3	5	2	5	1	1	1	0	1	1	5	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:41027443G>A	ENST00000324545.7	+	18	3241	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	USP9X_ENST00000378308.2_Missense_Mutation_p.E870K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	870					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGATTATCATGAGGAAAGAAC	0.333													19	6					0	0	0	0	A	41027443	G	A	41027443	3	1	429	1	0	0	0	0	1	0	0	0	17186	1291	45	2	2674	2	USP9X	23	41027443	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	8622878	41027443	114243117	869	85136											
DDX3X	1654	broad.mit.edu	37	chrX	41200778	41200778	+	Frame_Shift_Del	DEL	G	G	-																															cagggtggagttctagcaaaGataaggatgcgtatagcagt																										TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:41200778delG	ENST00000399959.2	+	4	1048	c.193delG	c.(193-195)atfs	p.D65fs	DDX3X_ENST00000542215.1_Frame_Shift_Del_p.D109fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.D49fs|DDX3X_ENST00000441189.2_Frame_Shift_Del_p.D65fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	65					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTCTAGCAAAGATAAGGATGC	0.368										HNSCC(61;0.18)			26	5	---	---	---	---					-	41200778	G	-	41200778	7	5	429	1	0	1	0	1	0	0	0	0	4390	942	33	0	207	0	DDX3X	23	41200778	Frame_Shift_Del	DEL	G	TCGA-HL-7533-01A-11D-2229-08	173335	41200778	114069782	870	85137											
MAGED1	9500	broad.mit.edu	37	chrX	51641680	51641680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttttttaccttcagggtGagacatcccctccttggaga	7	14	8	12	0	1	2	1	1	0	2	3	4	3	2	5	2	1	0	5	2	1	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:51641680G>A	ENST00000375695.2	+	11	2106	c.1953G>A	c.(1951-1953)gtG>gtA	p.V651V	MAGED1_ENST00000375722.1_Silent_p.V595V|MAGED1_ENST00000375772.3_Silent_p.V595V|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.V595V	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	595	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTTCAGGGTGAGACATCCCC	0.443										Multiple Myeloma(10;0.10)			9	2					0	0	0	0	A	51641680	G	A	51641680	2	1	429	1	0	0	0	0	0	0	0	1	9252	1277	45	2		2	MAGED1	23	51641680	Silent	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10440902	51641680	103628880	871	85138											
MED12	9968	broad.mit.edu	37	chrX	70348164	70348164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggtgaatgacatcgcaatCctgtgtgcagagctgaccgg	10	8	14	9	2	0	4	0	3	0	1	2	4	1	4	2	2	2	3	2	2	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:70348164C>G	ENST00000333646.6	+	23	3427	c.3228C>G	c.(3226-3228)atC>atG	p.I1076M	MED12_ENST00000374102.1_Missense_Mutation_p.I1076M|MED12_ENST00000374080.3_Missense_Mutation_p.I1076M	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1076					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACATCGCAATCCTGTGTGCAG	0.493			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	37					0	0	0	0	G	70348164	C	G	70348164	3	3	429	1	0	0	0	0	1	0	0	0	9497	845	30	2	3318	2	MED12	23	70348164	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	18706484	70348164	84922396	872	85139											
TAF1	6872	broad.mit.edu	37	chrX	70644011	70644011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttttcatcacagaacatctCcaagcacaagtatcagagtc	14	10	5	12	0	4	2	3	0	1	2	6	2	4	2	1	0	2	2	1	0	4	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:70644011C>G	ENST00000449580.1	+	32	4724	c.4673C>G	c.(4672-4674)tCc>tGc	p.S1558C	TAF1_ENST00000423759.1_Missense_Mutation_p.S1579C|TAF1_ENST00000373790.4_Missense_Mutation_p.S1558C|TAF1_ENST00000276072.3_Missense_Mutation_p.S1579C|TAF1_ENST00000461764.1_3'UTR			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1558	Bromo 2.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGAACATCTCCAAGCACAAG	0.393													22	10					0	0	0	0	G	70644011	C	G	70644011	3	3	429	1	0	0	0	0	1	0	0	0	15604	855	30	2	4862	2	TAF1	23	70644011	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	295847	70644011	84626549	873	85140											
SERPINA7	6906	broad.mit.edu	37	chrX	105280663	105280663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagagggcatttcctatCtgcaattccagttccttctt	9	15	7	10	0	2	2	0	1	2	1	5	2	5	2	3	1	1	3	3	1	3	6			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:105280663C>G	ENST00000327674.4	-	1	722	c.387G>C	c.(385-387)caG>caC	p.Q129H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q129H			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	129					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CATTTCCTATCTGCAATTCCA	0.448													59	28					0	0	0	0	G	105280663	C	G	105280663	3	3	429	1	0	0	0	0	1	0	0	0	14181	912	32	2	876	2	SERPINA7	23	105280663	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	34636652	105280663	49989897	874	85141											
RGAG1	57529	broad.mit.edu	37	chrX	109695755	109695755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaatgacaaccacagcttCtgaagcaatgcccacactgc	15	6	7	13	0	1	2	0	2	1	0	1	3	1	2	2	0	5	2	2	0	5	1	rs146389599		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:109695755C>T	ENST00000465301.2	+	3	2156	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S637F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	637										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACCACAGCTTCTGAAGCAATG	0.507													35	20					0	0	0	0	T	109695755	C	T	109695755	3	4	429	1	0	0	0	0	1	0	0	0	13356	913	32	2	1912	2	RGAG1	23	109695755	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	4415092	109695755	45574805	875	85142											
THOC2	57187	broad.mit.edu	37	chrX	122778706	122778706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcagtccatcaaagaaaGagatggaagtagtacctggt	15	9	11	6	0	1	2	1	0	0	2	2	4	2	3	2	2	2	3	2	2	5	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:122778706G>C	ENST00000245838.8	-	14	1514	c.1483C>G	c.(1483-1485)Ctt>Gtt	p.L495V	THOC2_ENST00000491737.1_Missense_Mutation_p.L380V|THOC2_ENST00000355725.4_Missense_Mutation_p.L495V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	495					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATCAAAGAAAGAGATGGAAGT	0.333													20	11					0	0	0	0	C	122778706	G	C	122778706	3	2	429	1	0	0	0	0	1	0	0	0	15959	942	33	2	3398	2	THOC2	23	122778706	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	13082951	122778706	32491854	876	85143											
FAM127B	26071	broad.mit.edu	37	chrX	134185808	134185808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctcccggcctagaagtcctCgtcctcctcccatccaaaga	8	9	6	18	2	1	2	0	0	1	2	8	2	6	2	7	1	0	0	7	1	3	1			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:134185808C>G	ENST00000370775.2	-	1	397	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	FAM127B_ENST00000520964.1_Intron	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	111										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					TAGAAGTCCTCGTCCTCCTCC	0.647													17	8					0	0	0	0	G	134185808	C	G	134185808	3	3	429	1	0	0	0	0	1	0	0	0	5473	893	31	3	78	3	FAM127B	23	134185808	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	11407102	134185808	21084752	877	85144											
FAM127B	26071	broad.mit.edu	37	chrX	134185958	134185958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaacgtcaccttcagggcgtCgttggagaacgtgttctcgt	7	11	13	10	5	3	1	2	0	1	1	5	3	3	1	1	2	2	2	1	2	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:134185958C>G	ENST00000370775.2	-	1	247	c.181G>C	c.(181-183)Gac>Cac	p.D61H	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	61										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					TTCAGGGCGTCGTTGGAGAAC	0.587													39	14					0	0	0	0	G	134185958	C	G	134185958	3	3	429	1	0	0	0	0	1	0	0	0	5473	884	31	3	228	3	FAM127B	23	134185958	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	150	134185958	21084602	878	85145											
MAGEC3	139081	broad.mit.edu	37	chrX	140969550	140969550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcaactgtgcatctgagGaggtcatctgggaagtgctg	9	9	16	7	0	3	1	1	1	2	0	3	3	3	3	0	4	3	3	0	4	2	0			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:140969550G>A	ENST00000298296.1	+	4	877	c.877G>A	c.(877-879)Gag>Aag	p.E293K	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	293	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCATCTGAGGAGGTCATCTG	0.522													51	45					0	0	0	0	A	140969550	G	A	140969550	3	1	429	1	0	0	0	0	1	0	0	0	9251	1175	41	2	891	2	MAGEC3	23	140969550	Missense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	6783592	140969550	14301010	879	85146											
GABRA3	2556	broad.mit.edu	37	chrX	151336902	151336902	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcaatgattgttggggttGaggaggcactgggagcagcg	10	8	18	5	1	0	2	0	2	0	0	0	4	0	4	0	5	3	5	0	5	2	3			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:151336902G>C	ENST00000370314.4	-	10	1515	c.1277C>G	c.(1276-1278)tCa>tGa	p.S426*	GABRA3_ENST00000370311.1_Nonsense_Mutation_p.S426*|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Nonsense_Mutation_p.S426*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	426					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTGGGGTTGAGGAGGCACT	0.537													69	48					0	0	0	0	C	151336902	G	C	151336902	4	2	429	1	0	0	0	0	0	1	0	0	6210	1294	45	2	205	2	GABRA3	23	151336902	Nonsense_Mutation	SNP	G	TCGA-HL-7533-01A-11D-2229-08	10367352	151336902	3933658	880	85147											
ATP2B3	492	broad.mit.edu	37	chrX	152814277	152814277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcccagagggcctgcctCttgctgtcaccatctcctta	5	12	8	16	0	3	1	1	0	2	1	5	1	4	1	5	1	2	1	5	1	1	2			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:152814277C>G	ENST00000370186.1	+	8	1587	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	ATP2B3_ENST00000393842.1_Missense_Mutation_p.L421V|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L435V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L421V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L435V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L435V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	435					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCTGCCTCTTGCTGTCAC	0.483													24	13					0	0	0	0	G	152814277	C	G	152814277	3	3	429	1	0	0	0	0	1	0	0	0	1145	913	32	2	1333	2	ATP2B3	23	152814277	Missense_Mutation	SNP	C	TCGA-HL-7533-01A-11D-2229-08	1477375	152814277	2456283	881	85148											
PAX7	5081	broad.mit.edu	37	chr1	19018401	19018401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacccagacatatacacccGcgaggagctggcgcagagga	12	4	12	13	3	0	2	0	0	0	2	0	5	0	4	2	3	3	2	2	3	3	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:19018401G>A	ENST00000420770.2	+	5	823	c.740G>A	c.(739-741)cGc>cAc	p.R247H	PAX7_ENST00000375375.3_Missense_Mutation_p.R247H|PAX7_ENST00000400661.3_Missense_Mutation_p.R245H	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	247					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R247L(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ATATACACCCGCGAGGAGCTG	0.607			T	FOXO1A	alveolar rhabdomyosarcoma								8	16					0	0	0	0	A	19018401	G	A	19018401	3	1	430	1	0	0	0	0	1	0	0	0	11555	1087	38	1	758	1	PAX7	1	19018401	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		19018401	230232220	1	85149											
HSPG2	3339	broad.mit.edu	37	chr1	22191363	22191363	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaccgatgtagcctggCgggcagcggcactcctccac	8	5	13	15	3	0	1	0	0	0	1	2	3	2	1	4	3	2	3	4	3	1	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:22191363C>T	ENST00000374695.3	-	36	4678	c.4599G>A	c.(4597-4599)ccG>ccA	p.P1533P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1533	Laminin EGF-like 9; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGTAGCCTGGCGGGCAGCGGC	0.687													4	11					0	0	0	0	T	22191363	C	T	22191363	2	4	430	1	0	0	0	0	0	0	0	1	7483	755	27	1		1	HSPG2	1	22191363	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	3172962	22191363	227059258	2	85150											
HSPG2	3339	broad.mit.edu	37	chr1	22205082	22205082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcacctctcacagcggCggccagtgtagcctggggca	6	7	12	16	2	2	0	2	0	1	0	4	0	3	0	4	4	2	2	4	4	1	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:22205082C>A	ENST00000374695.3	-	19	2625	c.2546G>T	c.(2545-2547)cGc>cTc	p.R849L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	849	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTCACAGCGGCGGCCAGTGTA	0.632													8	31					0.000274275	0.000287618	1	0	A	22205082	C	A	22205082	3	1	430	1	0	0	0	0	1	0	0	0	7483	768	27	3	10945	3	HSPG2	1	22205082	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	13719	22205082	227045539	3	85151											
SLC9A1	6548	broad.mit.edu	37	chr1	27436232	27436232	+	Frame_Shift_Del	DEL	C	C	-																															gtccacgatgcccacgtgttCgtagttggcaaactcctcaa																										TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:27436232delC	ENST00000263980.3	-	3	1425	c.850delG	c.(850-852)aafs	p.E284fs	SLC9A1_ENST00000374086.3_Frame_Shift_Del_p.E284fs|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	284					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCCACGTGTTCGTAGTTGGCA	0.642													30	57	---	---	---	---					-	27436232	C	-	27436232	7	5	430	1	0	1	0	1	0	0	0	0	14797	893	31	0	1637	0	SLC9A1	1	27436232	Frame_Shift_Del	DEL	C	TCGA-IQ-7630-01A-11D-2078-08	5231150	27436232	221814389	4	85152											
TAL1	6886	broad.mit.edu	37	chr1	47689752	47689752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacatagggaaggcatcCggctccccaaagaacccgct	12	5	11	13	2	0	2	0	1	0	1	2	3	2	3	4	3	2	3	4	3	5	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:47689752C>T	ENST00000371883.3	-	3	1047	c.471G>A	c.(469-471)ccG>ccA	p.P157P	TAL1_ENST00000294339.3_Silent_p.P155P|TAL1_ENST00000371884.2_Silent_p.P155P			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	155					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAAGGCATCCGGCTCCCCAA	0.562			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								23	66					0	0	0	0	T	47689752	C	T	47689752	2	4	430	1	0	0	0	0	0	0	0	1	15632	639	23	1		1	TAL1	1	47689752	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	20253520	47689752	201560869	5	85153											
OMA1	115209	broad.mit.edu	37	chr1	59002204	59002204	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcatattccagttccGataaaagtctgaactgttct	10	15	6	10	1	3	1	1	1	2	0	5	2	5	1	2	0	2	3	2	0	4	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:59002204G>T	ENST00000371226.3	-	3	823	c.710C>A	c.(709-711)tCg>tAg	p.S237*	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Nonsense_Mutation_p.S237*|OMA1_ENST00000467063.1_5'UTR	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	237					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTCCAGTTCCGATAAAAGTCT	0.343													12	30					5.16669e-11	5.72764e-11	1	0	T	59002204	G	T	59002204	4	4	430	1	0	0	0	0	0	1	0	0	10935	1059	37	3	892	3	OMA1	1	59002204	Nonsense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	11312452	59002204	190248417	6	85154											
RAB25	57111	broad.mit.edu	37	chr1	156031179	156031179	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagacacctgcaccctccAtgcggagccaagatggggaa	12	4	12	13	2	0	2	0	0	0	2	1	5	1	4	4	3	3	1	4	3	3	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:156031179A>T	ENST00000361084.5	+	0	229				RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family						positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCACCCTCCATGCGGAGCCA	0.537													45	108					0	0	0	0	T	156031179	A	T	156031179	1	4	430	1	0	0	0	0	0	0	0	0	12994	232	8	5		5	RAB25	1	156031179	Translation_Start_Site	SNP	A	TCGA-IQ-7630-01A-11D-2078-08	97028975	156031179	93219442	7	85155											
FCRL5	83416	broad.mit.edu	37	chr1	157509002	157509002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcctcctgcagagttggCcgacctacgctccagggcag	7	7	11	16	2	0	1	0	0	0	1	3	2	3	1	5	2	2	4	5	2	1	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:157509002C>T	ENST00000361835.3	-	7	1433	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	FCRL5_ENST00000356953.4_Missense_Mutation_p.A426T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A341T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A426T|FCRL5_ENST00000368189.3_Missense_Mutation_p.A426T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	426	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCAGAGTTGGCCGACCTACGC	0.572													3	41					0	0	0	0	T	157509002	C	T	157509002	3	4	430	1	0	0	0	0	1	0	0	0	5843	739	26	4	1701	4	FCRL5	1	157509002	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	1477823	157509002	91741619	8	85156											
LHX9	56956	broad.mit.edu	37	chr1	197889131	197889131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcagcccggagaagccCgccctgtgcgccggctgcgg	4	4	15	18	6	1	1	1	0	0	1	1	2	1	1	5	3	4	2	5	3	1	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:197889131C>T	ENST00000367390.3	+	3	204	c.177C>T	c.(175-177)ccC>ccT	p.P59P	LHX9_ENST00000337020.2_Silent_p.P68P|LHX9_ENST00000367387.4_Silent_p.P68P|LHX9_ENST00000561173.1_Silent_p.P74P|LHX9_ENST00000367391.1_Silent_p.P59P	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	68					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CGGAGAAGCCCGCCCTGTGCG	0.642													30	81					0	0	0	0	T	197889131	C	T	197889131	2	4	430	1	0	0	0	0	0	0	0	1	8831	639	23	1		1	LHX9	1	197889131	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	40380129	197889131	51361490	9	85157											
NR5A2	2494	broad.mit.edu	37	chr1	200017721	200017721	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatggatagttaccagacGagctctccagcaagcatccc	12	9	8	12	1	1	1	0	0	1	1	3	3	2	2	3	1	4	4	3	1	5	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:200017721G>T	ENST00000367362.3	+	5	1131	c.885G>T	c.(883-885)acG>acT	p.T295T	NR5A2_ENST00000236914.3_Silent_p.T249T|NR5A2_ENST00000544748.1_Silent_p.T223T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	295					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTTACCAGACGAGCTCTCCAG	0.498													24	52					1.10923e-09	1.21577e-09	1	0	T	200017721	G	T	200017721	2	4	430	1	0	0	0	0	0	0	0	1	10707	1045	37	3		3	NR5A2	1	200017721	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	2128590	200017721	49232900	10	85158											
FAM71A	149647	broad.mit.edu	37	chr1	212798505	212798505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgaccggccaccggctgcGaagagtatgctggacatggc	9	5	14	13	4	0	1	0	0	0	1	0	4	0	2	3	4	2	3	3	4	2	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:212798505G>A	ENST00000294829.3	+	1	717	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	96								p.E96K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCGGCTGCGAAGAGTATGC	0.572													5	46					0	0	0	0	A	212798505	G	A	212798505	3	1	430	1	0	0	0	0	1	0	0	0	5653	1059	37	1	288	1	FAM71A	1	212798505	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	12780784	212798505	36452116	11	85159											
SNTG2	54221	broad.mit.edu	37	chr2	1271203	1271203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttcaagattttgactttGaggaccagaggccctattgc	9	13	10	9	0	2	4	1	2	1	2	2	5	2	5	2	2	1	0	2	2	2	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:1271203G>C	ENST00000308624.5	+	14	1273	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.E255Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	382	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTTGACTTTGAGGACCAGAG	0.522													9	12					0	0	0	0	C	1271203	G	C	1271203	3	2	430	1	0	0	0	0	1	0	0	0	14963	1291	45	2	1198	2	SNTG2	2	1271203	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		1271203	241928170	12	85160											
ADCY3	109	broad.mit.edu	37	chr2	25054533	25054533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaagtgcctcttacccGgggaaagatggcagccaggg	12	6	14	9	1	1	2	0	0	1	2	1	3	1	3	3	4	3	1	3	4	5	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:25054533G>A	ENST00000260600.5	-	11	2904	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.R318W	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	685					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCTCTTACCCGGGGAAAGATG	0.498													5	24					0	0	0	0	A	25054533	G	A	25054533	3	1	430	1	0	0	0	0	1	0	0	0	295	1115	39	1	1425	1	ADCY3	2	25054533	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	23783330	25054533	218144840	13	85161											
TTC27	55622	broad.mit.edu	37	chr2	33036234	33036234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggagaaatctggaggctGtatgcccacgtatatggaaa	13	9	13	6	1	1	1	0	0	1	1	1	5	1	3	1	4	1	3	1	4	5	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:33036234G>A	ENST00000317907.4	+	17	2373	c.2142G>A	c.(2140-2142)ctG>ctA	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	714							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCTGGAGGCTGTATGCCCACG	0.453													8	32					0	0	0	0	A	33036234	G	A	33036234	2	1	430	1	0	0	0	0	0	0	0	1	16791	1364	48	4		4	TTC27	2	33036234	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	7981701	33036234	210163139	14	85162											
ZNF638	27332	broad.mit.edu	37	chr2	71591185	71591185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtcacagattccgtcGgtctcgaagcccaatgcatt	10	10	8	13	3	3	1	2	0	1	1	6	2	4	1	2	1	2	1	2	1	3	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:71591185G>T	ENST00000409544.1	+	5	2150	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	ZNF638_ENST00000355812.3_Missense_Mutation_p.R507L|ZNF638_ENST00000377802.2_Missense_Mutation_p.R507L|ZNF638_ENST00000264447.4_Missense_Mutation_p.R507L|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	507	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGATTCCGTCGGTCTCGAAGC	0.453													24	45					4.26978e-12	4.78807e-12	1	0	T	71591185	G	T	71591185	3	4	430	1	0	0	0	0	1	0	0	0	18150	1116	39	3	1534	3	ZNF638	2	71591185	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	38554951	71591185	171608188	15	85163											
DYSF	8291	broad.mit.edu	37	chr2	71755438	71755438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcccagtggacgatgcCgtgatggacaacgtgaaaca	11	8	11	11	3	1	2	0	2	1	0	2	5	2	4	2	2	3	0	2	2	2	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:71755438C>T	ENST00000258104.3	+	13	1468	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	DYSF_ENST00000410041.1_Silent_p.A429A|DYSF_ENST00000409366.1_Silent_p.A398A|DYSF_ENST00000410020.3_Silent_p.A429A|DYSF_ENST00000429174.2_Silent_p.A397A|DYSF_ENST00000409762.1_Silent_p.A428A|DYSF_ENST00000394120.2_Silent_p.A398A|DYSF_ENST00000409651.1_Silent_p.A429A|DYSF_ENST00000409582.3_Silent_p.A428A|DYSF_ENST00000413539.2_Silent_p.A428A|DYSF_ENST00000409744.1_Silent_p.A398A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	397	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGACGATGCCGTGATGGACA	0.542													7	16					0	0	0	0	T	71755438	C	T	71755438	2	4	430	1	0	0	0	0	0	0	0	1	4895	639	23	1		1	DYSF	2	71755438	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	164253	71755438	171443935	16	85164											
CNGA3	1261	broad.mit.edu	37	chr2	99013652	99013652	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccaggtgaagggtggtggGgacaagcccctggctgatgg	8	6	19	8	0	0	2	0	2	0	0	0	3	0	3	3	7	2	1	3	7	2	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:99013652G>T	ENST00000393504.1	+	8	2436	c.2019G>T	c.(2017-2019)ggG>ggT	p.G673G	CNGA3_ENST00000409937.1_Silent_p.G677G|CNGA3_ENST00000272602.2_Silent_p.G673G|CNGA3_ENST00000436404.2_Silent_p.G655G	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	673					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGGGTGGTGGGGACAAGCCCC	0.557													9	42					1.58986e-06	1.69469e-06	1	0	T	99013652	G	T	99013652	2	4	430	1	0	0	0	0	0	0	0	1	3628	1219	43	4		4	CNGA3	2	99013652	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	27258214	99013652	144185721	17	85165											
TMEM37	140738	broad.mit.edu	37	chr2	120194723	120194723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggcctggtacgcagcGtgggcgccttggccgtggtg	3	8	19	11	4	0	0	0	0	0	0	0	0	0	0	3	5	2	3	3	5	1	2	rs148211959	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:120194723G>A	ENST00000306406.4	+	2	315	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	TMEM37_ENST00000409826.1_Missense_Mutation_p.V106M|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	94						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGTACGCAGCGTGGGCGCCTT	0.637													21	68					0	0	0	0	A	120194723	G	A	120194723	3	1	430	1	0	0	0	0	1	0	0	0	16252	1145	40	1	286	1	TMEM37	2	120194723	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	21181071	120194723	123004650	18	85166											
MYO7B	4648	broad.mit.edu	37	chr2	128384586	128384586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtcacaccactggccGtgcgagagcaggtggtggac	10	5	15	11	2	1	1	1	0	0	1	1	3	1	2	2	4	3	2	2	4	1	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:128384586G>A	ENST00000389524.4	+	31	4227	c.4174G>A	c.(4174-4176)Gtg>Atg	p.V1392M	MYO7B_ENST00000428314.1_Missense_Mutation_p.V1392M|MYO7B_ENST00000409816.2_Missense_Mutation_p.V1392M|MYO7B_ENST00000409090.1_Missense_Mutation_p.V245M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1392	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCACTGGCCGTGCGAGAGCA	0.612													7	7					0	0	0	0	A	128384586	G	A	128384586	3	1	430	1	0	0	0	0	1	0	0	0	10153	1145	40	1	4292	1	MYO7B	2	128384586	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	8189863	128384586	114814787	19	85167											
LCT	3938	broad.mit.edu	37	chr2	136575003	136575003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacggctcatggaaggTcacccacagcttcacacggt	10	6	9	16	2	3	0	3	0	0	0	3	1	3	1	2	4	1	2	2	4	1	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:136575003T>C	ENST00000264162.2	-	6	1625	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	539	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCATGGAAGGTCACCCACAGC	0.587													12	36					0	0	0	0	C	136575003	T	C	136575003	3	2	430	1	0	0	0	0	1	0	0	0	8746	1667	58	5	4216	5	LCT	2	136575003	Missense_Mutation	SNP	T	TCGA-IQ-7630-01A-11D-2078-08	8190417	136575003	106624370	20	85168											
GALNT3	2591	broad.mit.edu	37	chr2	166627124	166627124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaaaactattataaaGaaaaaaattactgcaccaag	24	7	3	7	0	0	1	0	0	0	1	0	1	0	1	2	0	4	1	2	0	13	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:166627124G>T	ENST00000392701.3	-	2	862	c.87C>A	c.(85-87)ttC>ttA	p.F29L		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	29					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTATTATAAAGAAAAAAATTA	0.308													10	22					0.000442599	0.000459167	1	0	T	166627124	G	T	166627124	3	4	430	1	0	0	0	0	1	0	0	0	6263	933	33	2	1854	2	GALNT3	2	166627124	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	30052121	166627124	76572249	21	85169											
SLC19A3	80704	broad.mit.edu	37	chr2	228563678	228563678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcacattgcttggtttcagGctgttcagctggcccttatt	5	16	10	10	0	3	0	3	0	0	0	3	0	3	0	1	3	2	5	1	3	1	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:228563678G>A	ENST00000258403.3	-	3	824	c.753C>T	c.(751-753)agC>agT	p.S251S	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.S247S	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	251					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TTGGTTTCAGGCTGTTCAGCT	0.473													22	40					0	0	0	0	A	228563678	G	A	228563678	2	1	430	1	0	0	0	0	0	0	0	1	14518	1194	42	4		4	SLC19A3	2	228563678	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	61936554	228563678	14635695	22	85170											
HES6	55502	broad.mit.edu	37	chr2	239147619	239147619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcgtccccaggacccGgggggctgggtattggggat	6	7	18	10	2	0	0	0	0	0	0	2	2	1	2	3	8	0	2	3	8	1	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:239147619G>A	ENST00000272937.5	-	4	742	c.524C>T	c.(523-525)cCg>cTg	p.P175L	HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409160.3_3'UTR|HES6_ENST00000409182.1_Missense_Mutation_p.P146L|HES6_ENST00000409002.3_Missense_Mutation_p.P173L|AC096574.4_ENST00000456601.1_RNA			Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	175					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCCAGGACCCGGGGGGCTGGG	0.726													5	13					0	0	0	0	A	239147619	G	A	239147619	3	1	430	1	0	0	0	0	1	0	0	0	7120	1116	39	1	154	1	HES6	2	239147619	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	10583941	239147619	4051754	23	85171											
ITGA9	3680	broad.mit.edu	37	chr3	37523001	37523001	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcatcgctggaagaacatCtactatgaagccgaccacat	13	8	8	12	2	2	2	1	1	1	1	3	4	2	3	2	1	3	2	2	1	5	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:37523001C>T	ENST00000264741.5	+	4	703	c.447C>T	c.(445-447)atC>atT	p.I149I	ITGA9_ENST00000422441.1_Silent_p.I149I	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	149					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGAAGAACATCTACTATGAAG	0.532													11	70					0	0	0	0	T	37523001	C	T	37523001	2	4	430	1	0	0	0	0	0	0	0	1	7936	903	32	2		2	ITGA9	3	37523001	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		37523001	160499429	24	85172											
FLNB	2317	broad.mit.edu	37	chr3	58145386	58145386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcccctctggagccgtggagGagtgccacgtgtctgagctg	5	8	16	12	2	2	1	0	1	2	0	2	4	2	4	4	3	3	1	4	3	0	0	rs139262140		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58145386G>A	ENST00000295956.4	+	42	7159	c.6994G>A	c.(6994-6996)Gag>Aag	p.E2332K	FLNB_ENST00000429972.2_Missense_Mutation_p.E2321K|FLNB_ENST00000419752.2_Missense_Mutation_p.E2152K|FLNB_ENST00000493452.1_Missense_Mutation_p.E2139K|FLNB_ENST00000490882.1_Missense_Mutation_p.E2363K|FLNB_ENST00000358537.3_Missense_Mutation_p.E2308K|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.E2291K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2332	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCCGTGGAGGAGTGCCACGT	0.552													4	31					0	0	0	0	A	58145386	G	A	58145386	3	1	430	1	0	0	0	0	1	0	0	0	5979	1175	41	2	7257	2	FLNB	3	58145386	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	20622385	58145386	139877044	25	85173											
PXK	54899	broad.mit.edu	37	chr3	58395289	58395289	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgaagactgacaagagctCagtcccaccatggatctgag	13	7	10	11	1	2	4	1	2	1	2	4	6	3	5	2	1	1	1	2	1	2	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58395289C>T	ENST00000463280.1	+	13	1331	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	PXK_ENST00000383716.3_Nonsense_Mutation_p.Q414*|PXK_ENST00000536660.1_Nonsense_Mutation_p.Q310*|PXK_ENST00000383715.4_Nonsense_Mutation_p.Q430*|PXK_ENST00000484288.1_Nonsense_Mutation_p.Q447*|PXK_ENST00000479241.1_Nonsense_Mutation_p.Q430*|PXK_ENST00000356151.2_Nonsense_Mutation_p.Q447*|PXK_ENST00000302779.5_Nonsense_Mutation_p.Q430*			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	447	Protein kinase.				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			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)		GACAAGAGCTCAGTCCCACCA	0.418													4	27					0	0	0	0	T	58395289	C	T	58395289	4	4	430	1	0	0	0	0	0	1	0	0	12931	827	29	2	1397	2	PXK	3	58395289	Nonsense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	249903	58395289	139627141	26	85174											
ACOX2	8309	broad.mit.edu	37	chr3	58516345	58516345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgtaccgagtttgacGtaggtgccatctggcaagac	8	11	13	9	2	1	2	0	1	1	1	1	3	1	2	2	2	3	5	2	2	3	3	rs142094321	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58516345G>A	ENST00000302819.5	-	8	1131	c.840C>T	c.(838-840)taC>taT	p.Y280Y	ACOX2_ENST00000459701.2_Silent_p.Y266Y	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	280					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CGAGTTTGACGTAGGTGCCAT	0.597													7	16					0	0	0	0	A	58516345	G	A	58516345	2	1	430	1	0	0	0	0	0	0	0	1	159	1140	40	1		1	ACOX2	3	58516345	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	121056	58516345	139506085	27	85175											
KBTBD12	166348	broad.mit.edu	37	chr3	127703084	127703084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgagacctcatcccccCgccttcagatttggtggaag	7	9	9	16	2	2	2	2	0	0	2	4	4	4	3	7	2	0	0	7	2	1	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:127703084C>T	ENST00000405109.1	+	6	2302	c.1835C>T	c.(1834-1836)cCg>cTg	p.P612L	KBTBD12_ENST00000405256.1_Missense_Mutation_p.P612L|KBTBD12_ENST00000343941.4_Missense_Mutation_p.P187L|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.P219L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	612										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCATCCCCCCGCCTTCAGAT	0.537													21	32					0	0	0	0	T	127703084	C	T	127703084	3	4	430	1	0	0	0	0	1	0	0	0	8044	652	23	1	1853	1	KBTBD12	3	127703084	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	69186739	127703084	70319346	28	85176											
TRPC1	7220	broad.mit.edu	37	chr3	142511763	142511763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttctaagttatcttcGtctcttttttatgtatacaa	11	20	4	6	1	3	0	0	0	3	0	5	0	3	0	0	0	1	3	0	0	7	9			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:142511763G>A	ENST00000273482.6	+	8	1824	c.1433G>A	c.(1432-1434)cGt>cAt	p.R478H	TRPC1_ENST00000476941.1_Missense_Mutation_p.R512H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	512					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGTTATCTTCGTCTCTTTTTT	0.338													12	35					0	0	0	0	A	142511763	G	A	142511763	3	1	430	1	0	0	0	0	1	0	0	0	16673	1145	40	1	1463	1	TRPC1	3	142511763	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	14808679	142511763	55510667	29	85177											
MBNL1	4154	broad.mit.edu	37	chr3	152173353	152173353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatattgtgcatgacaccCgctacaagtgttggtaggtg	10	12	11	8	1	1	1	1	1	0	0	1	1	1	1	1	2	2	4	1	2	5	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:152173353C>T	ENST00000324210.5	+	7	1903	c.984C>T	c.(982-984)ccC>ccT	p.P328P	MBNL1_ENST00000357472.3_Silent_p.P328P|MBNL1_ENST00000493459.1_Silent_p.P289P|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000545754.1_Silent_p.P260P|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000492948.1_Silent_p.P328P|MBNL1_ENST00000282486.6_Intron	NM_021038.3	NP_066368.2	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	338					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCATGACACCCGCTACAAGTG	0.408													22	63					0	0	0	0	T	152173353	C	T	152173353	2	4	430	1	0	0	0	0	0	0	0	1	9422	639	23	1		1	MBNL1	3	152173353	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	9661590	152173353	45849077	30	85178											
GPR160	26996	broad.mit.edu	37	chr3	169801877	169801877	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgggaaaatattattaaaTatccttacactaggaatgag	16	13	7	5	0	0	1	0	1	0	0	1	3	1	3	1	2	1	0	1	2	10	7			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:169801877T>C	ENST00000355897.5	+	4	725	c.117T>C	c.(115-117)aaT>aaC	p.N39N		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TATTATTAAATATCCTTACAC	0.328													19	34					0	0	0	0	C	169801877	T	C	169801877	2	2	430	1	0	0	0	0	0	0	0	1	6713	1403	49	5		5	GPR160	3	169801877	Silent	SNP	T	TCGA-IQ-7630-01A-11D-2078-08	17628524	169801877	28220553	31	85179											
HTR3D	200909	broad.mit.edu	37	chr3	183756386	183756386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagggaaataagggccCgggtctcacccccacccacc	11	3	10	17	1	1	1	1	0	1	1	2	2	1	2	6	3	0	0	6	3	3	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:183756386C>T	ENST00000382489.3	+	7	1109	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	HTR3D_ENST00000428798.2_Missense_Mutation_p.P320L|HTR3D_ENST00000334128.2_Missense_Mutation_p.P195L|HTR3D_ENST00000453435.1_Missense_Mutation_p.P149L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	370						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AATAAGGGCCCGGGTCTCACC	0.652													6	18					0	0	0	0	T	183756386	C	T	183756386	3	4	430	1	0	0	0	0	1	0	0	0	7500	652	23	1	1305	1	HTR3D	3	183756386	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	13954509	183756386	14266044	32	85180											
ZFYVE28	57732	broad.mit.edu	37	chr4	2307028	2307028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccctgtggaccatgcGgctgagctgctccagctcct	4	8	11	18	2	0	1	0	1	0	0	2	2	2	2	6	2	4	4	6	2	0	0	rs145750553		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:2307028G>A	ENST00000290974.2	-	8	1378	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R277C|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R317C|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	347					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGACCATGCGGCTGAGCTGC	0.657													9	40					0	0	0	0	A	2307028	G	A	2307028	3	1	430	1	0	0	0	0	1	0	0	0	17765	1116	39	1	1648	1	ZFYVE28	4	2307028	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		2307028	188847248	33	85181											
GBA3	57733	broad.mit.edu	37	chr4	22737769	22737769	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttggattgactcattaccGcttctctctttcctggtcac	5	16	7	13	1	4	1	2	1	2	0	6	2	5	2	2	2	1	2	2	2	1	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:22737769G>T	ENST00000508166.1	+	0	326				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	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						ACTCATTACCGCTTCTCTCTT	0.433													28	84					6.07407e-21	6.89105e-21	1	0	T	22737769	G	T	22737769	1	4	430	0	1	0	0	0	0	0	0	0	6317	1087	38	3		3	GBA3	4	22737769	RNA	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	20430741	22737769	168416507	34	85182											
GBA3	57733	broad.mit.edu	37	chr4	22820363	22820363	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatccaacttgataaagtCaatcttcaagtatattgtgc	13	14	6	8	0	3	1	2	1	1	0	4	1	4	1	1	0	2	2	1	0	8	7			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:22820363C>G	ENST00000508166.1	+	0	1329				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508264.1_RNA	NM_020973.4	NP_066024.1	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						TTGATAAAGTCAATCTTCAAG	0.393													7	12					0	0	0	0	G	22820363	C	G	22820363	1	3	430	0	1	0	0	0	0	0	0	0	6317	813	29	2		2	GBA3	4	22820363	RNA	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	82594	22820363	168333913	35	85183											
PGM2	55276	broad.mit.edu	37	chr4	37848660	37848660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtgctctcaaagacacGtacatgttgtccagcaccgt	10	9	9	13	3	1	1	1	0	1	1	3	1	2	1	2	0	3	5	2	0	2	2	rs146573335	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:37848660G>A	ENST00000381967.4	+	9	1216	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	PGM2_ENST00000544359.1_Silent_p.T233T|PGM2_ENST00000537241.1_Silent_p.T212T	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	372					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TCAAAGACACGTACATGTTGT	0.498													37	104					0	0	0	0	A	37848660	G	A	37848660	2	1	430	1	0	0	0	0	0	0	0	1	11870	1132	40	1		1	PGM2	4	37848660	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	15028297	37848660	153305616	36	85184											
C4orf33	132321	broad.mit.edu	37	chr4	130030466	130030466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttaattttgacagccacGgacagcatttagtgctttta	11	15	7	8	1	1	1	0	1	1	0	1	2	1	2	1	1	3	2	1	1	3	7			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:130030466G>A	ENST00000281146.4	+	4	968	c.247G>A	c.(247-249)Gga>Aga	p.G83R	C4orf33_ENST00000502887.1_Missense_Mutation_p.G83R|C4orf33_ENST00000425929.1_Missense_Mutation_p.G83R	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	83										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TGACAGCCACGGACAGCATTT	0.328													27	87					0	0	0	0	A	130030466	G	A	130030466	3	1	430	1	0	0	0	0	1	0	0	0	2284	1117	39	1	257	1	C4orf33	4	130030466	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	92181806	130030466	61123810	37	85185											
CTNND2	1501	broad.mit.edu	37	chr5	11346651	11346651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggcggcatagctggccctCtggaaggtggccgcggcggc	4	5	18	14	5	1	0	0	0	1	0	1	1	1	1	3	8	1	2	3	8	2	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:11346651C>G	ENST00000304623.8	-	9	1650	c.1461G>C	c.(1459-1461)caG>caC	p.Q487H	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q54H|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q396H|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q150H|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q487H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	487					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCTGGCCCTCTGGAAGGTGG	0.642													19	103					0	0	0	0	G	11346651	C	G	11346651	3	3	430	1	0	0	0	0	1	0	0	0	4052	912	32	2	2272	2	CTNND2	5	11346651	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		11346651	169568609	38	85186											
BRIX1	55299	broad.mit.edu	37	chr5	34924964	34924964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaaagatcatagaagaaGatgctgctcttgtagaaata	17	12	8	4	0	2	5	1	0	1	5	2	5	2	5	0	0	2	3	0	0	9	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:34924964G>A	ENST00000336767.5	+	9	1039	c.676G>A	c.(676-678)Gat>Aat	p.D226N	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	226	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						CATAGAAGAAGATGCTGCTCT	0.338													9	68					0	0	0	0	A	34924964	G	A	34924964	3	1	430	1	0	0	0	0	1	0	0	0	1523	942	33	2	710	2	BRIX1	5	34924964	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	23578313	34924964	145990296	39	85187											
RASA1	5921	broad.mit.edu	37	chr5	86675667	86675667	+	Splice_Site	SNP	C	C	T																															ggcttcagaaatacttccacCgtaagtggtgaaattttcat																								rs138785106	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:86675667C>T	ENST00000456692.2	+	19	2187	c.2072_splice	c.e19+1	p.P691_splice	RASA1_ENST00000512763.1_Splice_Site_p.P701_splice|RASA1_ENST00000274376.6_Splice_Site_p.P868_splice|RASA1_ENST00000506290.1_Splice_Site_p.P702_splice	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	868					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATACTTCCACCGTAAGTGGTG	0.303													19	27					0	0	0	0	T	86675667	C	T	86675667	5	4	430	1	0	0	0	0	0	0	1	0	13142	666	23	1	2689	1	RASA1	5	86675667	Splice_Site	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	51750703	86675667	94239593	40	85188	1068	2									
RASA1	5921	broad.mit.edu	37	chr5	86675668	86675668	+	Splice_Site	SNP	G	G	T																															gcttcagaaatacttccaccGtaagtggtgaaattttcatt																										TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:86675668G>T	ENST00000456692.2	+	19	2187		c.e19+1		RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000274376.6_Splice_Site|RASA1_ENST00000506290.1_Splice_Site	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1						cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TACTTCCACCGTAAGTGGTGA	0.303													18	24					1.67942e-08	1.81004e-08	1	0	T	86675668	G	T	86675668	5	4	430	1	0	0	0	0	0	0	1	0	13142	1159	40	3	2690	3	RASA1	5	86675668	Splice_Site	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	1	86675668	94239592	41	85189	1068	2									
SNX24	28966	broad.mit.edu	37	chr5	122337107	122337107	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaaacttttagatcttttGatgaaacagagtctgaagag	15	13	8	5	0	3	6	1	3	2	3	3	6	3	6	0	0	2	0	0	0	5	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:122337107G>C	ENST00000261369.4	+	5	537	c.352G>C	c.(352-354)Gat>Cat	p.D118H	SNX24_ENST00000395451.4_Missense_Mutation_p.D151H|SNX24_ENST00000513881.1_Missense_Mutation_p.D118H|SNX24_ENST00000506996.1_Missense_Mutation_p.D118H	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	118	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TAGATCTTTTGATGAAACAGA	0.318													3	15					0	0	0	0	C	122337107	G	C	122337107	3	2	430	1	0	0	0	0	1	0	0	0	14983	1290	45	2	370	2	SNX24	5	122337107	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	35661439	122337107	58578153	42	85190											
PCDHA7	56141	broad.mit.edu	37	chr5	140216300	140216300	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcagtcccagccttcctCagggtccatcctctacagac	7	10	6	18	0	3	1	2	0	1	1	7	1	7	1	6	1	2	0	6	1	1	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:140216300C>T	ENST00000525929.1	+	1	2332	c.2332C>T	c.(2332-2334)Cag>Tag	p.Q778*	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.Q778*|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCTTCCTCAGGGTCCATC	0.478													20	11					0	0	0	0	T	140216300	C	T	140216300	4	4	430	1	0	0	0	0	0	1	0	0	11600	827	29	2	2334	2	PCDHA7	5	140216300	Nonsense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	17879193	140216300	40698960	43	85191											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801398	140801398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagtactggagggaagcctgGaccgagagaaagaggctgct	12	6	16	7	1	0	2	0	0	0	2	0	7	0	5	2	4	3	3	2	4	4	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:140801398G>A	ENST00000398587.2	+	1	637	c.604G>A	c.(604-606)Gac>Aac	p.D202N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D202N|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGCCTGGACCGAGAGAA	0.562													12	30					0	0	0	0	A	140801398	G	A	140801398	3	1	430	1	0	0	0	0	1	0	0	0	11623	1174	41	2	606	2	PCDHGA11	5	140801398	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	585098	140801398	40113862	44	85192											
GPLD1	2822	broad.mit.edu	37	chr6	24437398	24437398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaaatcgggagaagcGgcggtctccgctgaaggtgc	9	5	15	12	4	1	2	0	1	1	1	3	3	1	2	3	4	2	1	3	4	3	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:24437398G>A	ENST00000230036.1	-	21	2250	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	714						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CGGGAGAAGCGGCGGTCTCCG	0.552													15	43					0	0	0	0	A	24437398	G	A	24437398	3	1	430	1	0	0	0	0	1	0	0	0	6663	1116	39	1	402	1	GPLD1	6	24437398	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		24437398	146677669	45	85193											
TNXB	7148	broad.mit.edu	37	chr6	32049423	32049424	+	Frame_Shift_Ins	INS	-	-	G																															ctgctccaggaactcagggcINSgggggggctcctctttcctc																								rs12211410	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:32049423_32049424insG	ENST00000375244.3	-	10	3964_3965	c.3763_3764insC	c.(3763-3765)cccfs	p.P1255fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.P1255fs			P22105	TENX_HUMAN	tenascin XB	1342	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAACTCAGGGCGGGGGGGCTCC	0.639													2	4	---	---	---	---					G	32049424	-	G	32049423	7	5	430	1	0	1	1	0	0	0	0	0	16440	768	27	0	11089	0	TNXB	6	32049423	Frame_Shift_Ins	INS	-	TCGA-IQ-7630-01A-11D-2078-08	7612025	32049423	139065644	46	85194											
DNAH8	1769	broad.mit.edu	37	chr6	38825334	38825334	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgttgtggacacacgattCagaagaggctttacgtaatg	12	11	12	6	2	1	2	1	0	0	2	1	5	1	3	0	2	1	3	0	2	3	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:38825334C>G	ENST00000359357.3	+	40	5377	c.5123C>G	c.(5122-5124)tCa>tGa	p.S1708*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S1925*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S1708*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACACACGATTCAGAAGAGGCT	0.348													14	41					0	0	0	0	G	38825334	C	G	38825334	4	3	430	1	0	0	0	0	0	1	0	0	4643	838	29	2	5273	2	DNAH8	6	38825334	Nonsense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	6775911	38825334	132289733	47	85195											
CUL9	23113	broad.mit.edu	37	chr6	43152214	43152214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtgggcaaagtgggtgtgGaagaaggcaaagcagagcac	15	4	17	5	0	0	2	0	0	0	2	0	3	0	3	0	4	2	4	0	4	5	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:43152214G>A	ENST00000252050.4	+	2	250	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	CUL9_ENST00000372647.2_Missense_Mutation_p.E56K|CUL9_ENST00000354495.3_Missense_Mutation_p.E56K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	56					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGTGGGTGTGGAAGAAGGCAA	0.562													18	37					0	0	0	0	A	43152214	G	A	43152214	3	1	430	1	0	0	0	0	1	0	0	0	4093	1175	41	2	168	2	CUL9	6	43152214	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	4326880	43152214	127962853	48	85196											
POPDC3	64208	broad.mit.edu	37	chr6	105606599	105606599	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcctccaagacacatatcGacaatcagtttctgcagtga	12	11	6	12	1	3	2	1	1	2	1	6	3	4	2	2	0	1	2	2	0	3	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:105606599G>A	ENST00000254765.3	-	4	900	c.622C>T	c.(622-624)Cga>Tga	p.R208*	BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_5'UTR	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	208						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GACACATATCGACAATCAGTT	0.413													20	103					0	0	0	0	A	105606599	G	A	105606599	4	1	430	1	0	0	0	0	0	1	0	0	12328	1066	37	1	257	1	POPDC3	6	105606599	Nonsense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	62454385	105606599	65508468	49	85197											
PDSS2	57107	broad.mit.edu	37	chr6	107780282	107780282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcgtcgctcagcaggcagcGaaggctcatgaaggacgtgg	9	6	15	11	4	2	1	2	1	0	0	4	3	2	2	0	4	2	4	0	4	2	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:107780282G>C	ENST00000369037.4	-	1	485	c.208C>G	c.(208-210)Cgc>Ggc	p.R70G	PDSS2_ENST00000369031.4_Missense_Mutation_p.R70G|PDSS2_ENST00000453874.2_Missense_Mutation_p.R70G	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	70					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AGCAGGCAGCGAAGGCTCATG	0.622											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	36					0	0	0	0	C	107780282	G	C	107780282	3	2	430	1	0	0	0	0	1	0	0	0	11765	1058	37	3	1023	3	PDSS2	6	107780282	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	2173683	107780282	63334785	50	85198											
LACE1	246269	broad.mit.edu	37	chr6	108723212	108723212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttcagatctctataaaaAtggactccaaagagctaact	15	12	5	9	0	3	2	1	0	2	2	5	3	4	3	1	1	2	1	1	1	6	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:108723212A>G	ENST00000368977.4	+	7	947	c.761A>G	c.(760-762)aAt>aGt	p.N254S		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	254							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CTCTATAAAAATGGACTCCAA	0.284													3	11					0	0	0	0	G	108723212	A	G	108723212	3	3	430	1	0	0	0	0	1	0	0	0	8648	101	4	5	787	5	LACE1	6	108723212	Missense_Mutation	SNP	A	TCGA-IQ-7630-01A-11D-2078-08	942930	108723212	62391855	51	85199											
LAMA2	3908	broad.mit.edu	37	chr6	129714240	129714240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtttggagagtcccGgggggaaaatgaagaaatgg	13	7	17	4	1	0	3	0	1	0	2	1	6	1	4	1	5	1	2	1	5	5	1	rs138296015	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:129714240G>C	ENST00000421865.2	+	37	5334	c.5285G>C	c.(5284-5286)cGg>cCg	p.R1762P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1762	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAGAGTCCCGGGGGGAAAAT	0.468													13	47					0	0	0	0	C	129714240	G	C	129714240	3	2	430	1	0	0	0	0	1	0	0	0	8659	1116	39	3	5431	3	LAMA2	6	129714240	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	20991028	129714240	41400827	52	85200											
L3MBTL3	84456	broad.mit.edu	37	chr6	130425615	130425615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcaatttgaataaagaccGtatttttccagaccgcttaa	15	13	5	8	2	1	3	1	1	0	2	2	3	2	3	3	0	0	2	3	0	7	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:130425615G>A	ENST00000529410.1	+	21	2260	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R594H|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R569H|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R569H|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R594H|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R569H			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	594					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AATAAAGACCGTATTTTTCCA	0.383													31	61					0	0	0	0	A	130425615	G	A	130425615	3	1	430	1	0	0	0	0	1	0	0	0	8646	1145	40	1	1847	1	L3MBTL3	6	130425615	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	711375	130425615	40689452	53	85201											
EGFR	1956	broad.mit.edu	37	chr7	55233012	55233012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgcccactacattgacGgcccccactgcgtcaagacc	9	7	9	16	2	1	2	1	1	0	1	1	2	1	2	4	1	3	0	4	1	2	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:55233012G>A	ENST00000275493.2	+	15	1939	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	EGFR_ENST00000455089.1_Missense_Mutation_p.G543S|EGFR_ENST00000342916.3_Missense_Mutation_p.G588S|EGFR_ENST00000344576.2_Missense_Mutation_p.G588S|EGFR_ENST00000454757.2_Missense_Mutation_p.G535S|EGFR_ENST00000442591.1_Missense_Mutation_p.G588S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	588					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTACATTGACGGCCCCCACTG	0.532		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	43					0	0	0	0	A	55233012	G	A	55233012	3	1	430	1	0	0	0	0	1	0	0	0	5003	1116	39	1	1831	1	EGFR	7	55233012	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		55233012	103905651	54	85202											
ZAN	7455	broad.mit.edu	37	chr7	100391590	100391590	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgcctacagtggcacccaGagcctcccctggctgactgt	7	9	10	15	0	0	2	0	1	0	1	1	2	1	2	5	2	3	2	5	2	2	2	rs143981169	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:100391590G>A	ENST00000542585.1	+	0	8146				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGGCACCCAGAGCCTCCCCT	0.672													5	17					0	0	0	0	A	100391590	G	A	100391590	1	1	430	0	1	0	0	0	0	0	0	0	17609	943	33	2		2	ZAN	7	100391590	RNA	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	45158578	100391590	58747073	55	85203											
MUC17	140453	broad.mit.edu	37	chr7	100686824	100686824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctacttctgtcaccaccCgtcctgtgaccccttcatca	6	12	4	19	1	5	1	3	1	2	0	6	1	6	1	6	0	1	0	6	0	1	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:100686824C>T	ENST00000306151.4	+	3	12191	c.12127C>T	c.(12127-12129)Cgt>Tgt	p.R4043C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4043						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTCACCACCCGTCCTGTGAC	0.537													40	106					0	0	0	0	T	100686824	C	T	100686824	3	4	430	1	0	0	0	0	1	0	0	0	10044	652	23	1	12137	1	MUC17	7	100686824	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	295234	100686824	58451839	56	85204											
CUX1	1523	broad.mit.edu	37	chr7	101840038	101840038	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaatactaatggtacacaCcagttctcaccagcggggtt	11	10	8	12	1	1	0	1	0	1	0	3	0	2	0	3	3	3	3	3	3	4	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:101840038C>T	ENST00000360264.3	+	15	1400	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	CUX1_ENST00000292535.7_Silent_p.H449H|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Silent_p.H449H|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.H449H	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	449					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGGTACACACCAGTTCTCAC	0.572													30	73					0	0	0	0	T	101840038	C	T	101840038	2	4	430	1	0	0	0	0	0	0	0	1	4096	506	18	4		4	CUX1	7	101840038	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	1153214	101840038	57298625	57	85205											
KCND2	3751	broad.mit.edu	37	chr7	119915562	119915562	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcggagcctttgtcacactCcgagtcttccgggtcttcag	6	11	11	13	3	4	0	2	0	2	0	6	2	6	1	3	2	2	0	3	2	0	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:119915562C>T	ENST00000331113.4	+	1	1841	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	292					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTGTCACACTCCGAGTCTTCC	0.527													12	23					0	0	0	0	T	119915562	C	T	119915562	2	4	430	1	0	0	0	0	0	0	0	1	8072	842	30	2		2	KCND2	7	119915562	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	18075524	119915562	39223101	58	85206											
PAX4	5078	broad.mit.edu	37	chr7	127255554	127255554	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggccggccattcacaaaGagccccccaagctggttcat	10	6	11	14	1	2	1	2	0	0	1	2	1	2	1	5	4	2	2	5	4	2	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:127255554G>C	ENST00000341640.2	-	1	226	c.21C>G	c.(19-21)ctC>ctG	p.L7L	PAX4_ENST00000338516.3_Silent_p.L15L|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Silent_p.L7L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	15	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CATTCACAAAGAGCCCCCCAA	0.617													15	81					0	0	0	0	C	127255554	G	C	127255554	2	2	430	1	0	0	0	0	0	0	0	1	11552	929	33	2		2	PAX4	7	127255554	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	7339992	127255554	31883109	59	85207											
SSBP1	6742	broad.mit.edu	37	chr7	141445354	141445354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacatggataaaaataatGtgaggcgacaagcaacaaca	21	6	8	6	1	0	1	0	1	0	0	0	3	0	2	0	2	4	1	0	2	9	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:141445354G>T	ENST00000481508.1	+	6	808	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L	SSBP1_ENST00000265304.6_Missense_Mutation_p.V125L|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.V125L|SSBP1_ENST00000498107.1_Missense_Mutation_p.V125L|SSBP1_ENST00000465582.1_Missense_Mutation_p.V125L	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	125	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TAAAAATAATGTGAGGCGACA	0.313													15	40					4.7546e-09	5.15303e-09	1	0	T	141445354	G	T	141445354	3	4	430	1	0	0	0	0	1	0	0	0	15269	1377	48	4	391	4	SSBP1	7	141445354	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	14189800	141445354	17693309	60	85208											
KRBA1	84626	broad.mit.edu	37	chr7	149430329	149430329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgctcccccagggcccGcctgagctgcccagtgagtc	5	6	13	17	1	0	2	0	2	0	0	2	2	1	2	5	2	3	3	5	2	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:149430329G>A	ENST00000255992.10	+	18	2682	c.2283G>A	c.(2281-2283)ccG>ccA	p.P761P	KRBA1_ENST00000319551.8_Silent_p.P701P|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Silent_p.P701P	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	762	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGGGCCCGCCTGAGCTGC	0.647													39	114					0	0	0	0	A	149430329	G	A	149430329	2	1	430	1	0	0	0	0	0	0	0	1	8491	1074	38	1		1	KRBA1	7	149430329	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	7984975	149430329	9708334	61	85209											
CA8	767	broad.mit.edu	37	chr8	61178601	61178601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaggcaatggtcctccCgaaagaactgaaaaagaaaa	17	6	9	9	1	0	4	0	2	0	2	2	5	2	4	3	2	1	1	3	2	7	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:61178601C>T	ENST00000317995.4	-	3	564	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	100			S -> P (in CMARQ3; affects protein stability owing to accelerated proteasomal degradation).		one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				ATGGTCCTCCCGAAAGAACTG	0.388													11	30					0	0	0	0	T	61178601	C	T	61178601	2	4	430	1	0	0	0	0	0	0	0	1	2548	639	23	1		1	CA8	8	61178601	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		61178601	85185421	62	85210											
KCNS2	3788	broad.mit.edu	37	chr8	99440583	99440583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctacagctaccatggcCgcaaagtagagcccgagcag	12	4	12	13	2	0	1	0	0	0	1	0	2	0	1	3	1	6	6	3	1	4	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:99440583C>T	ENST00000287042.4	+	2	726	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	KCNS2_ENST00000521839.1_Missense_Mutation_p.R126C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	126						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTACCATGGCCGCAAAGTAGA	0.552													20	40					0	0	0	0	T	99440583	C	T	99440583	3	4	430	1	0	0	0	0	1	0	0	0	8142	652	23	1	378	1	KCNS2	8	99440583	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	38261982	99440583	46923439	63	85211											
VPS13B	157680	broad.mit.edu	37	chr8	100729474	100729474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtctcaaagaaagaagccGcattctgataggaccatgtt	15	9	9	8	1	2	3	1	1	2	2	3	4	2	4	2	1	1	2	2	1	5	3	rs147099791	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:100729474G>A	ENST00000358544.2	+	37	6716	c.6605G>A	c.(6604-6606)cGc>cAc	p.R2202H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R2177H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2202					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAAAGAAGCCGCATTCTGATA	0.393													28	32					0	0	0	0	A	100729474	G	A	100729474	3	1	430	1	0	0	0	0	1	0	0	0	17286	1087	38	1	6941	1	VPS13B	8	100729474	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	1288891	100729474	45634548	64	85212											
PHF20L1	51105	broad.mit.edu	37	chr8	133848943	133848943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtatttgtgagatggatGaggagaatggcttcatgatc	11	13	14	3	0	1	4	1	3	0	2	2	8	1	5	0	3	0	2	0	3	2	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:133848943G>A	ENST00000395386.2	+	16	2367	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PHF20L1_ENST00000395390.2_Missense_Mutation_p.E665K|PHF20L1_ENST00000220847.7_Missense_Mutation_p.E77K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	690							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGAGATGGATGAGGAGAATGG	0.388													14	70					0	0	0	0	A	133848943	G	A	133848943	3	1	430	1	0	0	0	0	1	0	0	0	11904	1291	45	2	2222	2	PHF20L1	8	133848943	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	33119469	133848943	12515079	65	85213											
NRBP2	340371	broad.mit.edu	37	chr8	144919579	144919579	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtgctgactgctcacCgccactgcagcgggggcctg	4	8	15	14	2	2	1	1	1	1	0	2	1	2	1	3	3	4	3	3	3	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:144919579C>T	ENST00000442628.2	-	12	1215	c.1076_splice	c.e12+1	p.R359_splice	NRBP2_ENST00000327830.5_Splice_Site_p.R116_splice	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	359					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GACTGCTCACCGCCACTGCAG	0.701													4	9					0	0	0	0	T	144919579	C	T	144919579	5	4	430	1	0	0	0	0	0	0	1	0	10714	666	23	1	457	1	NRBP2	8	144919579	Splice_Site	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	11070636	144919579	1444443	66	85214											
UNC13B	10497	broad.mit.edu	37	chr9	35377547	35377547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaaggaccgcatgaagatCcgagagcgaaataagccaga	17	4	12	8	3	0	5	0	2	0	3	1	8	1	6	3	1	2	1	3	1	4	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:35377547C>T	ENST00000378495.3	+	15	1893	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	UNC13B_ENST00000378496.4_Silent_p.I557I|UNC13B_ENST00000396787.1_Silent_p.I569I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	557					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			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)			GCATGAAGATCCGAGAGCGAA	0.507													16	265					0	0	0	0	T	35377547	C	T	35377547	2	4	430	1	0	0	0	0	0	0	0	1	17081	845	30	2		2	UNC13B	9	35377547	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		35377547	105835884	67	85215											
TLN1	7094	broad.mit.edu	37	chr9	35724888	35724888	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagagtcatccaccatgatCgtcttcacagttccatccag	10	12	6	13	1	3	2	2	1	1	1	7	2	6	2	4	0	0	1	4	0	1	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:35724888C>T	ENST00000314888.9	-	4	650	c.297G>A	c.(295-297)acG>acA	p.T99T	TLN1_ENST00000540444.1_Silent_p.T99T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	99	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCACCATGATCGTCTTCACAG	0.512													21	198					0	0	0	0	T	35724888	C	T	35724888	2	4	430	1	0	0	0	0	0	0	0	1	16041	871	31	1		1	TLN1	9	35724888	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	347341	35724888	105488543	68	85216											
TMEM2	23670	broad.mit.edu	37	chr9	74305092	74305092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttttccgtcaagcggaatGgaacgctgcacggatccaca	10	10	10	11	4	1	0	1	0	0	0	3	3	3	3	2	3	3	2	2	3	3	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:74305092G>A	ENST00000377044.4	-	22	4306	c.3767C>T	c.(3766-3768)cCa>cTa	p.P1256L	TMEM2_ENST00000396272.3_Missense_Mutation_p.P249L|TMEM2_ENST00000377066.5_Missense_Mutation_p.P1193L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1256						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAGCGGAATGGAACGCTGCA	0.478													23	74					0	0	0	0	A	74305092	G	A	74305092	3	1	430	1	0	0	0	0	1	0	0	0	16215	1348	47	4	396	4	TMEM2	9	74305092	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	38580204	74305092	66908339	69	85217											
VPS13A	23230	broad.mit.edu	37	chr9	79840885	79840885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaatataactatagctaGacagacggcagaagttgagg	15	10	10	6	1	0	4	0	1	0	3	0	4	0	4	0	2	2	3	0	2	7	8			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:79840885G>A	ENST00000360280.3	+	14	1465	c.1205G>A	c.(1204-1206)aGa>aAa	p.R402K	VPS13A_ENST00000376636.3_Missense_Mutation_p.R402K|VPS13A_ENST00000357409.5_Missense_Mutation_p.R402K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R402K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	402					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTATAGCTAGACAGACGGCA	0.264													23	89					0	0	0	0	A	79840885	G	A	79840885	3	1	430	1	0	0	0	0	1	0	0	0	17285	942	33	2	1259	2	VPS13A	9	79840885	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	5535793	79840885	61372546	70	85218											
NEBL	10529	broad.mit.edu	37	chr10	21106596	21106596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaaattgcagttcccCgttgaagttctcccttatat	10	14	7	10	1	2	2	1	1	1	1	4	3	3	2	3	0	1	4	3	0	4	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:21106596C>T	ENST00000377122.4	-	21	2477	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	694					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCAGTTCCCCGTTGAAGTTC	0.383													15	56					0	0	0	0	T	21106596	C	T	21106596	3	4	430	1	0	0	0	0	1	0	0	0	10373	652	23	1	995	1	NEBL	10	21106596	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		21106596	114428151	71	85219											
RBP3	5949	broad.mit.edu	37	chr10	48390514	48390514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctccagaacctcatggcGgaggcccctttgcagccagg	8	6	11	16	1	1	1	1	0	0	1	2	2	2	2	6	4	3	1	6	4	1	1	rs150932600	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:48390514G>A	ENST00000224600.4	-	1	477	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	122	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCATGGCGGAGGCCCCTT	0.642													29	70					0	0	0	0	A	48390514	G	A	48390514	3	1	430	1	0	0	0	0	1	0	0	0	13239	1116	39	1	3395	1	RBP3	10	48390514	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	27283918	48390514	87144233	72	85220											
PLA2G12B	84647	broad.mit.edu	37	chr10	74700977	74700977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcttaaggtcagagcagatcGagtggagacaccatcggaat	13	7	13	8	2	1	3	1	0	0	3	3	6	1	4	1	3	1	2	1	3	2	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:74700977G>C	ENST00000373032.3	-	3	508	c.416C>G	c.(415-417)tCg>tGg	p.S139W		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	139					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AGAGCAGATCGAGTGGAGACA	0.498													25	70					0	0	0	0	C	74700977	G	C	74700977	3	2	430	1	0	0	0	0	1	0	0	0	12063	1059	37	3	179	3	PLA2G12B	10	74700977	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	26310463	74700977	60833770	73	85221											
ADRB1	153	broad.mit.edu	37	chr10	115804437	115804437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcctcgtgtgcaccgtGtgggccatctcggccctggt	2	9	16	14	4	1	0	0	0	1	0	3	0	1	0	4	5	1	1	4	5	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:115804437G>A	ENST00000369295.2	+	1	632	c.546G>A	c.(544-546)gtG>gtA	p.V182V		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	182					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	TGTGCACCGTGTGGGCCATCT	0.692													11	20					0	0	0	0	A	115804437	G	A	115804437	2	1	430	1	0	0	0	0	0	0	0	1	340	1364	48	4		4	ADRB1	10	115804437	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	41103460	115804437	19730310	74	85222											
CYP2R1	120227	broad.mit.edu	37	chr11	14913703	14913703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcagcaggaagagcgCgccgccgagcgccgccgcgc	9	0	17	15	8	0	2	0	0	0	2	0	5	0	3	4	1	4	2	4	1	2	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:14913703C>T	ENST00000334636.5	-	1	95	c.49G>A	c.(49-51)Gcg>Acg	p.A17T		NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	17					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AGGAAGAGCGCGCCGCCGAGC	0.701													10	17					0	0	0	0	T	14913703	C	T	14913703	3	4	430	1	0	0	0	0	1	0	0	0	4205	768	27	1	1476	1	CYP2R1	11	14913703	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		14913703	120092813	75	85223											
ANO5	203859	broad.mit.edu	37	chr11	22272376	22272376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattggagactaaatagtaCgtgtttggcttcaaaggtat	12	15	10	4	1	1	1	1	0	0	1	1	2	1	1	0	3	1	4	0	3	7	8			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:22272376C>T	ENST00000324559.8	+	11	1420	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	368						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTAAATAGTACGTGTTTGGCT	0.368													39	49					0	0	0	0	T	22272376	C	T	22272376	3	4	430	1	0	0	0	0	1	0	0	0	699	536	19	1	1145	1	ANO5	11	22272376	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	7358673	22272376	112734140	76	85224											
OR4C6	219432	broad.mit.edu	37	chr11	55433179	55433179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcactttatatgtgatttGtttcagttgttgacacttgc	8	19	8	6	0	2	2	2	2	0	0	2	3	2	2	0	0	1	3	0	0	2	8			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:55433179G>T	ENST00000314259.3	+	1	566	c.537G>T	c.(535-537)ttG>ttT	p.L179F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	179					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						TATGTGATTTGTTTCAGTTGT	0.433													50	63					3.68337e-26	4.20338e-26	1	0	T	55433179	G	T	55433179	3	4	430	1	0	0	0	0	1	0	0	0	11123	1368	48	4	539	4	OR4C6	11	55433179	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	33160803	55433179	79573337	77	85225											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57088123	57088123	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctgggtttggcaggcAgggctggcttggcaggcagg	5	7	21	8	0	0	0	0	0	0	0	0	0	0	0	0	9	0	9	0	9	0	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:57088123A>C	ENST00000532437.1	-	2	469	c.158T>G	c.(157-159)cTg>cGg	p.L53R	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L53R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	53	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTTGGCAGGCAGGGCTGGCTT	0.647													5	26					0	0	0	0	C	57088123	A	C	57088123	3	2	430	1	0	0	0	0	1	0	0	0	16414	188	7	5	5067	5	TNKS1BP1	11	57088123	Missense_Mutation	SNP	A	TCGA-IQ-7630-01A-11D-2078-08	1654944	57088123	77918393	78	85226											
SHANK2	22941	broad.mit.edu	37	chr11	70332944	70332944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacgaaatggttttcgggctCcctgggcgtggcactcggca	6	9	14	12	4	0	0	0	0	0	0	3	1	1	0	1	5	0	4	1	5	1	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:70332944C>T	ENST00000338508.4	-	32	3456	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K	SHANK2_ENST00000409161.1_Missense_Mutation_p.E556K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E773K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E557K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	773					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.E1153K(1)|p.E557K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTTCGGGCTCCCTGGGCGTG	0.677													21	50					0	0	0	0	T	70332944	C	T	70332944	3	4	430	1	0	0	0	0	1	0	0	0	14353	864	30	2	2103	2	SHANK2	11	70332944	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	13244821	70332944	64673572	79	85227											
NUMA1	4926	broad.mit.edu	37	chr11	71721849	71721849	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttcagcttctgctgctGcaccttgctggcttggtcag	4	13	10	14	0	3	0	2	0	1	0	3	0	3	0	2	2	5	6	2	2	0	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:71721849G>A	ENST00000393695.3	-	17	5033	c.4702C>T	c.(4702-4704)Cag>Tag	p.Q1568*	NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q1554*|NUMA1_ENST00000351960.6_Nonsense_Mutation_p.Q432*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1568					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCTGCTGCTGCACCTTGCTG	0.592			T	RARA	APL								67	221					0	0	0	0	A	71721849	G	A	71721849	4	1	430	1	0	0	0	0	0	1	0	0	10821	1328	46	4	1689	4	NUMA1	11	71721849	Nonsense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	1388905	71721849	63284667	80	85228											
KCNJ5	3762	broad.mit.edu	37	chr11	128781352	128781352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagtggcaagtgcaacGtgcaccacggcaacgtccag	13	4	13	11	3	0	2	0	0	0	2	1	2	1	2	2	2	4	4	2	2	4	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:128781352G>A	ENST00000529694.1	+	2	560	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	KCNJ5_ENST00000533599.1_Missense_Mutation_p.V62M|KCNJ5_ENST00000338350.4_Missense_Mutation_p.V62M	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	62					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAAGTGCAACGTGCACCACGG	0.607													28	66					0	0	0	0	A	128781352	G	A	128781352	3	1	430	1	0	0	0	0	1	0	0	0	8107	1145	40	1	186	1	KCNJ5	11	128781352	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	57059503	128781352	6225164	81	85229											
CACNA1C	775	broad.mit.edu	37	chr12	2566851	2566851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgcgtgctgcgccccctgCggctggtgtccggagtccca	2	8	14	17	5	0	0	0	0	0	0	3	1	3	1	5	3	3	2	5	3	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:2566851C>T	ENST00000399655.1	+	5	1001	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	CACNA1C_ENST00000399649.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R246W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R246W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R246W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R246W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	246					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGCCCCCTGCGGCTGGTGTC	0.567													71	187					0	0	0	0	T	2566851	C	T	2566851	3	4	430	1	0	0	0	0	1	0	0	0	2565	759	27	1	754	1	CACNA1C	12	2566851	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		2566851	131285044	82	85230											
DYRK4	8798	broad.mit.edu	37	chr12	4705363	4705363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttctggagacaatcGggaaggggtcctttggacag	11	9	15	6	1	1	2	0	1	1	1	3	5	2	4	1	5	0	1	1	5	3	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:4705363G>A	ENST00000540757.2	+	5	491	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	DYRK4_ENST00000010132.5_Missense_Mutation_p.G111R|DYRK4_ENST00000543431.1_Missense_Mutation_p.G111R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	111	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGAGACAATCGGGAAGGGGTC	0.542													49	85					0	0	0	0	A	4705363	G	A	4705363	3	1	430	1	0	0	0	0	1	0	0	0	4894	1116	39	1	341	1	DYRK4	12	4705363	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	2138512	4705363	129146532	83	85231											
MLF2	8079	broad.mit.edu	37	chr12	6857986	6857986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcatagcggcgggactgtCgggaaggggagtcctcaggt	8	7	18	8	3	2	0	2	0	0	0	4	3	3	3	1	6	1	0	1	6	2	1	rs71450169		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:6857986C>T	ENST00000203630.5	-	8	1366	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	MLF2_ENST00000539187.1_Missense_Mutation_p.R241Q|MLF2_ENST00000542154.1_Missense_Mutation_p.R241Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R241Q			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	241					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						GCGGGACTGTCGGGAAGGGGA	0.687													7	81					0	0	0	0	T	6857986	C	T	6857986	3	4	430	1	0	0	0	0	1	0	0	0	9685	884	31	1	28	1	MLF2	12	6857986	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	2152623	6857986	126993909	84	85232											
TENC1	23371	broad.mit.edu	37	chr12	53450797	53450797	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actggccttgctatccccagGgcggaccaggcactggccac	7	6	12	16	1	0	0	0	0	0	0	1	1	1	1	5	5	1	2	5	5	1	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:53450797G>A	ENST00000314250.6	+	11	1052	c.761_splice	c.e11-1	p.G254_splice	TENC1_ENST00000314276.3_Splice_Site_p.G264_splice|TENC1_ENST00000546602.1_Splice_Site_p.G254_splice|TENC1_ENST00000552570.1_Splice_Site_p.G254_splice|TENC1_ENST00000549700.1_Splice_Site_p.G254_splice|TENC1_ENST00000379902.3_Splice_Site_p.G130_splice|TENC1_ENST00000451358.1_Splice_Site_p.G254_splice	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	254	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTATCCCCAGGGCGGACCAGG	0.577													3	16					0	0	0	0	A	53450797	G	A	53450797	5	1	430	1	0	0	0	0	0	0	1	0	15852	1246	43	4	913	4	TENC1	12	53450797	Splice_Site	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	46592811	53450797	80401098	85	85233											
SMUG1	23583	broad.mit.edu	37	chr12	54576249	54576249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacctcaggctgtccacaGaggttccggaaaaagcccca	13	5	10	13	1	1	2	1	0	0	2	3	3	3	3	5	3	1	2	5	3	3	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:54576249G>A	ENST00000508394.2	-	3	506	c.444C>T	c.(442-444)ctC>ctT	p.L148L	SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000337581.3_Silent_p.L148L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000401977.2_Silent_p.L148L|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000514196.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	148				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						GCTGTCCACAGAGGTTCCGGA	0.567								Base excision repair (BER), DNA glycosylases					26	70					0	0	0	0	A	54576249	G	A	54576249	2	1	430	1	0	0	0	0	0	0	0	1	14906	929	33	2		2	SMUG1	12	54576249	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	1125452	54576249	79275646	86	85234											
CDK4	1019	broad.mit.edu	37	chr12	58143283	58143283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagagtttccacagaagaGaggcctaaggtgagaaggga	14	7	14	6	0	1	4	1	1	0	4	2	7	2	5	2	3	0	1	2	3	3	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:58143283G>A	ENST00000257904.6	-	6	1002	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	CDK4_ENST00000540325.1_Missense_Mutation_p.L93F|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_Silent_p.L95L	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	213	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCACAGAAGAGAGGCCTAAGG	0.403			Mis			melanoma			Hereditary Melanoma				7	21					0	0	0	0	A	58143283	G	A	58143283	3	1	430	1	0	0	0	0	1	0	0	0	3170	942	33	2	286	2	CDK4	12	58143283	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	3567034	58143283	75708612	87	85235											
NAV3	89795	broad.mit.edu	37	chr12	78583919	78583919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggcaaacaaacttgctGaatatgtaataaccaaatct	17	12	5	7	0	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	7	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:78583919G>A	ENST00000397909.2	+	34	6384	c.6211G>A	c.(6211-6213)Gaa>Aaa	p.E2071K	NAV3_ENST00000228327.6_Missense_Mutation_p.E2049K|NAV3_ENST00000536525.2_Missense_Mutation_p.E2049K|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.E1872K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2071						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAACTTGCTGAATATGTAAT	0.373										HNSCC(70;0.22)			10	40					0	0	0	0	A	78583919	G	A	78583919	3	1	430	1	0	0	0	0	1	0	0	0	10255	1291	45	2	6275	2	NAV3	12	78583919	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	20440636	78583919	55267976	88	85236											
HCFC2	29915	broad.mit.edu	37	chr12	104496888	104496888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttattgtggtcttaagaCatcatgtatagtaactgctg	11	16	9	5	0	2	1	1	0	1	1	2	2	2	1	0	1	2	3	0	1	5	7			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:104496888C>T	ENST00000229330.4	+	15	2320	c.2216C>T	c.(2215-2217)aCa>aTa	p.T739I	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	739	Fibronectin type-III 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGTCTTAAGACATCATGTATA	0.388													6	105					0	0	0	0	T	104496888	C	T	104496888	3	4	430	1	0	0	0	0	1	0	0	0	7043	478	17	4	2274	4	HCFC2	12	104496888	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	25912969	104496888	29355007	89	85237											
FLT1	2321	broad.mit.edu	37	chr13	29002024	29002024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgagtcaaatagcgagCagatttctcagtcgcaggta	12	8	11	10	3	2	1	2	0	1	1	4	3	2	1	1	1	2	3	1	1	3	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:29002024C>T	ENST00000282397.4	-	9	1392	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T	FLT1_ENST00000539099.1_Missense_Mutation_p.A381T|FLT1_ENST00000541932.1_Missense_Mutation_p.A381T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	381	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AAATAGCGAGCAGATTTCTCA	0.403													13	54					0	0	0	0	T	29002024	C	T	29002024	3	4	430	1	0	0	0	0	1	0	0	0	5986	710	25	4	3226	4	FLT1	13	29002024	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		29002024	86167854	90	85238											
SLC15A1	6564	broad.mit.edu	37	chr13	99378415	99378415	+	Silent	SNP	G	G	A																															gagtcggcgataagagctccGagaattggcgtcaggtagca																										TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:99378415G>A	ENST00000376503.5	-	4	262	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	69					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TAAGAGCTCCGAGAATTGGCG	0.453													12	31					0	0	0	0	A	99378415	G	A	99378415	2	1	430	1	0	0	0	0	0	0	0	1	14486	1045	37	1		1	SLC15A1	13	99378415	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	70376391	99378415	15791463	91	85239	1069	2									
SLC15A1	6564	broad.mit.edu	37	chr13	99378417	99378417	+	Missense_Mutation	SNP	G	G	C																															gtcggcgataagagctccgaGaattggcgtcaggtagcaca																								rs140055365		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:99378417G>C	ENST00000376503.5	-	4	260	c.205C>G	c.(205-207)Ctc>Gtc	p.L69V		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	69					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AGAGCTCCGAGAATTGGCGTC	0.453													12	32					0	0	0	0	C	99378417	G	C	99378417	3	2	430	1	0	0	0	0	1	0	0	0	14486	942	33	2	2001	2	SLC15A1	13	99378417	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	2	99378417	15791461	92	85240	1069	2									
SYNE2	23224	broad.mit.edu	37	chr14	64565540	64565540	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttccgtgaagagcgatGtaagggaaatgattttcttg	13	12	12	4	2	1	3	0	2	1	1	2	5	2	4	1	1	1	2	1	1	4	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:64565540G>A	ENST00000357395.3	+	64	12680		c.e64+1		SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Splice_Site			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGAGCGATGTAAGGGAAAT	0.388													5	19					0	0	0	0	A	64565540	G	A	64565540	5	1	430	1	0	0	0	0	0	0	1	0	15537	1391	48	4	12628	4	SYNE2	14	64565540	Splice_Site	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		64565540	42784000	93	85241											
MAP3K9	4293	broad.mit.edu	37	chr14	71209185	71209185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggatgatgatgttgaGctcccgttccaggatgtcaa	8	12	13	8	1	1	3	1	3	0	0	3	5	3	5	2	3	1	3	2	3	1	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:71209185G>A	ENST00000554752.2	-	6	1449	c.1450C>T	c.(1450-1452)Ctc>Ttc	p.L484F	MAP3K9_ENST00000554146.1_Missense_Mutation_p.L221F|MAP3K9_ENST00000381250.4_Missense_Mutation_p.L484F|MAP3K9_ENST00000553414.1_Missense_Mutation_p.L178F|MAP3K9_ENST00000555993.2_Missense_Mutation_p.L484F			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	484	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGATGTTGAGCTCCCGTTCC	0.617													14	35					0	0	0	0	A	71209185	G	A	71209185	3	1	430	1	0	0	0	0	1	0	0	0	9326	971	34	4	1938	4	MAP3K9	14	71209185	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	6643645	71209185	36140355	94	85242											
PAPLN	89932	broad.mit.edu	37	chr14	73720589	73720589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggctgagtgtgccGggctgcctgggaagccccct	5	7	18	11	1	0	1	0	1	0	0	0	4	0	4	4	5	3	2	4	5	1	0	rs145657526	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:73720589G>T	ENST00000427855.1	+	12	1324	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W	PAPLN_ENST00000340738.5_Missense_Mutation_p.G381W|PAPLN_ENST00000555445.1_Missense_Mutation_p.G408W|PAPLN_ENST00000381166.3_Missense_Mutation_p.G408W|PAPLN_ENST00000554301.1_Missense_Mutation_p.G408W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	408	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGAGTGTGCCGGGCTGCCTGG	0.697													14	39					1.05317e-09	1.16088e-09	1	0	T	73720589	G	T	73720589	3	4	430	1	0	0	0	0	1	0	0	0	11499	1116	39	3	1179	3	PAPLN	14	73720589	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	2511404	73720589	33628951	95	85243											
PTGR2	145482	broad.mit.edu	37	chr14	74345930	74345930	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaatgtggcagaacagctCcgtgaatcatgcccagctgg	11	7	12	11	1	1	2	1	1	0	1	2	3	2	2	2	2	4	3	2	2	3	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:74345930C>A	ENST00000555661.1	+	6	796	c.651C>A	c.(649-651)ctC>ctA	p.L217L	PTGR2_ENST00000554885.1_Silent_p.L168L|PTGR2_ENST00000267568.4_Silent_p.L217L|PTGR2_ENST00000555228.1_Silent_p.L217L|RP5-1021I20.4_ENST00000553813.1_Silent_p.L83L			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	217					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						CAGAACAGCTCCGTGAATCAT	0.403													45	112					4.06502e-11	4.53226e-11	1	0	A	74345930	C	A	74345930	2	1	430	1	0	0	0	0	0	0	0	1	12834	842	30	2		2	PTGR2	14	74345930	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	625341	74345930	33003610	96	85244											
TDP1	55775	broad.mit.edu	37	chr14	90485752	90485752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggggtccttttcctccCttcagcatttgtaagtttac	5	16	8	12	1	1	0	1	0	0	0	5	0	4	0	3	2	2	4	3	2	2	7			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:90485752C>T	ENST00000335725.4	+	15	1884	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	TDP1_ENST00000393454.2_Missense_Mutation_p.P545L|TDP1_ENST00000555880.1_Missense_Mutation_p.P545L|TDP1_ENST00000357382.3_Missense_Mutation_p.P306L|TDP1_ENST00000393452.3_Missense_Mutation_p.P545L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	545					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CTTTTCCTCCCTTCAGCATTT	0.512								Repair of DNA-protein crosslinks					7	15					0	0	0	0	T	90485752	C	T	90485752	3	4	430	1	0	0	0	0	1	0	0	0	15822	681	24	4	1684	4	TDP1	14	90485752	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	16139822	90485752	16863788	97	85245											
FBLN5	10516	broad.mit.edu	37	chr14	92347671	92347671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agataaggctcctcacagcgGatggggtcaatgcatttgaa	12	9	12	8	1	2	2	2	1	0	1	3	3	3	3	1	4	2	2	1	4	3	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:92347671G>A	ENST00000267620.10	-	10	1246	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	FBLN5_ENST00000556154.1_Silent_p.I323I|FBLN5_ENST00000342058.4_Silent_p.I318I			Q9UBX5	FBLN5_HUMAN	fibulin 5	318					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.I318M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CCTCACAGCGGATGGGGTCAA	0.527													11	35					0	0	0	0	A	92347671	G	A	92347671	2	1	430	1	0	0	0	0	0	0	0	1	5745	1164	41	2		2	FBLN5	14	92347671	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	1861919	92347671	15001869	98	85246											
FBLN5	10516	broad.mit.edu	37	chr14	92357591	92357591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccttccatcctcattgAgggtaaaaccagggttgcat	12	10	9	10	0	1	2	1	1	0	1	3	2	3	2	4	2	2	3	4	2	3	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:92357591A>G	ENST00000267620.10	-	7	885	c.716T>C	c.(715-717)cTc>cCc	p.L239P	FBLN5_ENST00000556154.1_Missense_Mutation_p.L203P|FBLN5_ENST00000342058.4_Missense_Mutation_p.L198P			Q9UBX5	FBLN5_HUMAN	fibulin 5	198	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ATCCTCATTGAGGGTAAAACC	0.478													3	45					0	0	0	0	G	92357591	A	G	92357591	3	3	430	1	0	0	0	0	1	0	0	0	5745	304	11	5	777	5	FBLN5	14	92357591	Missense_Mutation	SNP	A	TCGA-IQ-7630-01A-11D-2078-08	9920	92357591	14991949	99	85247											
GPR132	29933	broad.mit.edu	37	chr14	105518369	105518369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctcttcgaaggacacGttgttgcaggtcttggcgga	6	12	13	10	3	2	0	0	0	2	0	4	3	2	2	0	4	2	4	0	4	1	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:105518369G>A	ENST00000329797.3	-	4	1016	c.105C>T	c.(103-105)aaC>aaT	p.N35N	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.N26N|GPR132_ENST00000539291.2_Silent_p.N35N	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	35					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGAAGGACACGTTGTTGCAGG	0.657													17	50					0	0	0	0	A	105518369	G	A	105518369	2	1	430	1	0	0	0	0	0	0	0	1	6691	1136	40	1		1	GPR132	14	105518369	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	13160778	105518369	1831171	100	85248											
PLA2G4F	255189	broad.mit.edu	37	chr15	42434752	42434752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtgtgcggaaggtaCggttaaccagggggaagtgc	9	7	18	7	2	0	0	0	0	0	0	0	2	0	2	2	6	4	2	2	6	4	2	rs138996971		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:42434752C>T	ENST00000397272.3	-	19	2400	c.2309G>A	c.(2308-2310)cGt>cAt	p.R770H	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R768H	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	768	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCGGAAGGTACGGTTAACCAG	0.637													12	50					0	0	0	0	T	42434752	C	T	42434752	3	4	430	1	0	0	0	0	1	0	0	0	12078	536	19	1	254	1	PLA2G4F	15	42434752	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		42434752	60096640	101	85249											
MYO5A	4644	broad.mit.edu	37	chr15	52664414	52664414	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgagcgagcctcgattttGagcttctttagctcacgctt	7	14	9	11	3	2	2	1	2	1	0	3	4	2	2	1	0	4	3	1	0	1	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:52664414G>C	ENST00000399231.3	-	21	2967	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L	MYO5A_ENST00000399233.2_Silent_p.L908L|MYO5A_ENST00000356338.6_Silent_p.L908L|MYO5A_ENST00000553916.1_Silent_p.L908L|MYO5A_ENST00000358212.6_Silent_p.L908L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	908	IQ 6.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTCGATTTTGAGCTTCTTTA	0.537													11	25					0	0	0	0	C	52664414	G	C	52664414	2	2	430	1	0	0	0	0	0	0	0	1	10148	1277	45	2		2	MYO5A	15	52664414	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	10229662	52664414	49866978	102	85250											
PARP16	54956	broad.mit.edu	37	chr15	65555626	65555626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccaggctcaagtcactGgtgaggtaggtcccctctcc	7	8	13	13	0	3	1	2	1	1	0	5	1	4	1	4	5	0	2	4	5	2	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:65555626G>A	ENST00000261888.6	-	4	997	c.552C>T	c.(550-552)acC>acT	p.T184T	PARP16_ENST00000444347.2_Silent_p.T69T	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	184	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TCAAGTCACTGGTGAGGTAGG	0.567													4	18					0	0	0	0	A	65555626	G	A	65555626	2	1	430	1	0	0	0	0	0	0	0	1	11531	1335	47	4		4	PARP16	15	65555626	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	12891212	65555626	36975766	103	85251											
EFTUD1	79631	broad.mit.edu	37	chr15	82512532	82512532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgcctttgtcttgcaCgctcacgtctctgagcaatt	6	14	8	13	2	3	1	1	1	2	0	4	1	3	1	1	0	4	4	1	0	1	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:82512532C>T	ENST00000268206.7	-	13	1499	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	EFTUD1_ENST00000359445.3_Missense_Mutation_p.R393H	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	444					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTGTCTTGCACGCTCACGTCT	0.498													45	144					0	0	0	0	T	82512532	C	T	82512532	3	4	430	1	0	0	0	0	1	0	0	0	4996	536	19	1	2063	1	EFTUD1	15	82512532	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	16956906	82512532	20018860	104	85252											
UMOD	7369	broad.mit.edu	37	chr16	20348717	20348717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catctggacggaaaatcggcCctgggaggactccccattct	9	8	11	13	2	2	0	0	0	2	0	4	4	3	4	3	5	0	0	3	5	2	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:20348717C>A	ENST00000396134.2	-	9	1858	c.1735G>T	c.(1735-1737)Ggc>Tgc	p.G579C	UMOD_ENST00000424589.1_Missense_Mutation_p.G579C|UMOD_ENST00000302509.4_Missense_Mutation_p.G546C|UMOD_ENST00000570689.1_Missense_Mutation_p.G546C|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.G595C|UMOD_ENST00000396142.2_Missense_Mutation_p.G546C	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	546	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAAAATCGGCCCTGGGAGGAC	0.463													14	29					7.93312e-07	8.5029e-07	1	0	A	20348717	C	A	20348717	3	1	430	1	0	0	0	0	1	0	0	0	17075	623	22	4	302	4	UMOD	16	20348717	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		20348717	70006036	105	85253											
SLC12A4	6560	broad.mit.edu	37	chr16	67979117	67979117	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatgcgccgcacattggaTtggtccctacacgtagtgta	8	11	11	11	3	0	0	0	0	0	0	1	1	1	1	2	2	3	4	2	2	3	5	rs150617520		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:67979117T>C	ENST00000422611.2	-	22	3084	c.3045A>G	c.(3043-3045)caA>caG	p.Q1015Q	SLC12A4_ENST00000541864.2_Silent_p.Q982Q|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Silent_p.Q1013Q|SLC12A4_ENST00000537830.2_Silent_p.Q1007Q|SLC12A4_ENST00000576616.1_Silent_p.Q1013Q|SLC12A4_ENST00000572037.1_Silent_p.Q965Q	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1013					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACATTGGATTGGTCCCTAC	0.592													14	49					0	0	0	0	C	67979117	T	C	67979117	2	2	430	1	0	0	0	0	0	0	0	1	14473	1490	52	5		5	SLC12A4	16	67979117	Silent	SNP	T	TCGA-IQ-7630-01A-11D-2078-08	47630400	67979117	22375636	106	85254											
ZNF23	7571	broad.mit.edu	37	chr16	71482652	71482652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacatctgaaggctttccCgcattcattacactcatagg	10	13	7	11	1	3	1	2	1	1	0	4	1	4	1	1	2	2	3	1	2	4	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:71482652C>T	ENST00000393539.2	-	6	2089	c.1276G>A	c.(1276-1278)Ggg>Agg	p.G426R	ZNF23_ENST00000417828.1_Missense_Mutation_p.G426R|ZNF23_ENST00000564528.1_Missense_Mutation_p.G368R|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.G368R|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000357254.4_Missense_Mutation_p.G426R	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGGCTTTCCCGCATTCATTA	0.463													8	30					0	0	0	0	T	71482652	C	T	71482652	3	4	430	1	0	0	0	0	1	0	0	0	17878	652	23	1	659	1	ZNF23	16	71482652	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	3503535	71482652	18872101	107	85255											
SLC16A13	201232	broad.mit.edu	37	chr17	6942181	6942181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatgatagagagcatcGgggggctgctggggcctcct	7	8	17	9	1	0	3	0	1	0	2	2	4	1	3	2	5	3	4	2	5	1	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:6942181G>A	ENST00000308027.6	+	3	1362	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	352						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGAGAGCATCGGGGGGCTGCT	0.572													29	97					0	0	0	0	A	6942181	G	A	6942181	3	1	430	1	0	0	0	0	1	0	0	0	14494	1116	39	1	1064	1	SLC16A13	17	6942181	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		6942181	74253029	108	85256											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T																															tgatggtgaggatgggcctcCggttcatgccgcccatgcag																								rs11540652		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			6	35					0	0	0	0	T	7577538	C	T	7577538	3	4	430	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	635357	7577538	73617672	109	85257	1070	2									
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T																															gatgggcctccggttcatgcCgcccatgcaggaactgttac																								rs28934575		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			18	28					0	0	0	0	T	7577548	C	T	7577548	3	4	430	1	0	0	0	0	1	0	0	0	16476	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	10	7577548	73617662	110	85258	1070	2									
CHD3	1107	broad.mit.edu	37	chr17	7800529	7800529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtaaagtgaaagacccGcactatgctgagatggagga	15	6	13	7	2	0	3	0	2	0	2	0	6	0	5	1	2	2	3	1	2	5	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7800529G>A	ENST00000380358.4	+	11	2014	c.2013G>A	c.(2011-2013)ccG>ccA	p.P671P	CHD3_ENST00000330494.7_Silent_p.P612P|CHD3_ENST00000358181.4_Silent_p.P612P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	612	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGAAAGACCCGCACTATGCTG	0.542													17	45					0	0	0	0	A	7800529	G	A	7800529	2	1	430	1	0	0	0	0	0	0	0	1	3355	1074	38	1		1	CHD3	17	7800529	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	222981	7800529	73394681	111	85259											
KRT14	3861	broad.mit.edu	37	chr17	39740519	39740521	+	In_Frame_Del	DEL	TTC	TTC	-																															tagttctcacctcctcgtggTtcttcttcaggtaggccagc																										TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:39740519_39740521delTTC	ENST00000167586.6	-	3	839_841	c.753_755delGAA	c.(751-756)aac>aa	p.KN251del		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	251	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CTCCTCGTGGTTCTTCTTCAGGT	0.557													26	100	---	---	---	---					-	39740521	TTC	-	39740519	7	5	430	1	0	1	0	1	0	0	0	0	8503	1725	60	0	687	0	KRT14	17	39740519	In_Frame_Del	DEL	TTC	TCGA-IQ-7630-01A-11D-2078-08	31939990	39740519	41454691	112	85260											
WNK4	65266	broad.mit.edu	37	chr17	40940718	40940718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtctcagaccagaatgacaGagtggttgagtgccagctac	11	8	13	9	0	1	5	1	2	1	3	2	5	1	5	2	2	3	2	2	2	2	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:40940718G>C	ENST00000246914.5	+	11	2081	c.2060G>C	c.(2059-2061)aGa>aCa	p.R687T		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	687					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGAATGACAGAGTGGTTGAG	0.532													13	37					0	0	0	0	C	40940718	G	C	40940718	3	2	430	1	0	0	0	0	1	0	0	0	17476	942	33	2	2102	2	WNK4	17	40940718	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	1200199	40940718	40254492	113	85261											
TBX21	30009	broad.mit.edu	37	chr17	45822604	45822604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtgattcaggactgggcGaaggagactctaagaggagg	12	6	16	7	1	2	3	1	1	1	2	2	7	2	5	1	5	0	0	1	5	2	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:45822604G>A	ENST00000177694.1	+	6	1691	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	494					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.E494K(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGACTGGGCGAAGGAGACTC	0.617													11	31					0	0	0	0	A	45822604	G	A	45822604	3	1	430	1	0	0	0	0	1	0	0	0	15751	1059	37	1	1502	1	TBX21	17	45822604	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	4881886	45822604	35372606	114	85262											
ICAM2	3384	broad.mit.edu	37	chr17	62080239	62080239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaacagggacagcaacacCgacaccaccgtgactatgat	15	4	9	13	3	0	2	0	2	0	0	0	5	0	3	3	1	3	1	3	1	3	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:62080239C>T	ENST00000412356.1	-	6	1050	c.696G>A	c.(694-696)tcG>tcA	p.S232S	ICAM2_ENST00000579788.1_Silent_p.S232S|ICAM2_ENST00000579687.1_Silent_p.S232S|ICAM2_ENST00000578892.1_Silent_p.S208S|ICAM2_ENST00000578379.1_Silent_p.S131S|ICAM2_ENST00000449662.2_Silent_p.S232S|ICAM2_ENST00000418105.1_Silent_p.S232S|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	232					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						ACAGCAACACCGACACCACCG	0.612													3	16					0	0	0	0	T	62080239	C	T	62080239	2	4	430	1	0	0	0	0	0	0	0	1	7533	639	23	1		1	ICAM2	17	62080239	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	16257635	62080239	19114971	115	85263											
USH1G	124590	broad.mit.edu	37	chr17	72915896	72915896	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgggggagctctgcagCcgaccccgcggcgctcccac	5	4	15	17	4	1	0	0	0	1	0	2	2	2	1	4	4	3	4	4	4	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:72915896C>G	ENST00000319642.1	-	2	1217	c.1035G>C	c.(1033-1035)cgG>cgC	p.R345R		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	345					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCTCTGCAGCCGACCCCGCG	0.667													13	65					0	0	0	0	G	72915896	C	G	72915896	2	3	430	1	0	0	0	0	0	0	0	1	17131	726	26	4		4	USH1G	17	72915896	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	10835657	72915896	8279314	116	85264			1	128		2	2	18	C		7.907506e-05
USH1G	124590	broad.mit.edu	37	chr17	72915913	72915913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccgaccccgcggcgctcCcaccccatccagacccccat	7	3	7	24	4	0	1	0	0	0	1	2	2	2	1	9	1	1	1	9	1	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:72915913C>T	ENST00000319642.1	-	2	1200	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	340					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCGGCGCTCCCACCCCATCC	0.687													18	82					0	0	0	0	T	72915913	C	T	72915913	3	4	430	1	0	0	0	0	1	0	0	0	17131	632	22	4	375	4	USH1G	17	72915913	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	17	72915913	8279297	117	85265			1	128		2	2	18	C		7.907506e-05
SLC26A11	284129	broad.mit.edu	37	chr17	78211342	78211342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgggagccgggctggccGtggtgcccctgatgggcctc	4	7	17	13	2	0	1	0	1	0	0	1	2	0	2	5	5	2	1	5	5	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:78211342G>A	ENST00000361193.3	+	9	1214	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	SLC26A11_ENST00000411502.3_Missense_Mutation_p.V312M|SLC26A11_ENST00000546047.2_Missense_Mutation_p.V312M|SLC26A11_ENST00000572725.1_Missense_Mutation_p.V312M	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	312						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGGCTGGCCGTGGTGCCCCT	0.642													7	11					0	0	0	0	A	78211342	G	A	78211342	3	1	430	1	0	0	0	0	1	0	0	0	14604	1145	40	1	960	1	SLC26A11	17	78211342	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	5295429	78211342	2983868	118	85266											
DOT1L	84444	broad.mit.edu	37	chr19	2210646	2210646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaggaagagaaggcGggagcagccaccgtgaagaa	13	3	18	7	2	0	4	0	2	0	2	0	7	0	6	2	4	3	2	2	4	4	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:2210646G>A	ENST00000398665.3	+	14	1179	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	381						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		AAGAGAAGGCGGGAGCAGCCA	0.647													19	76					0	0	0	0	A	2210646	G	A	2210646	2	1	430	1	0	0	0	0	0	0	0	1	4745	1103	39	1		1	DOT1L	19	2210646	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		2210646	56918337	119	85267											
DUS3L	56931	broad.mit.edu	37	chr19	5789493	5789493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggctttgtccaggcCgttgcggatggacgggggct	4	9	18	10	3	0	0	0	0	0	0	1	2	1	2	2	6	2	4	2	6	0	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:5789493C>T	ENST00000309061.7	-	3	721	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	209					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGTCCAGGCCGTTGCGGATG	0.726													5	9					0	0	0	0	T	5789493	C	T	5789493	3	4	430	1	0	0	0	0	1	0	0	0	4843	652	23	1	1371	1	DUS3L	19	5789493	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	3578847	5789493	53339490	120	85268											
C3	718	broad.mit.edu	37	chr19	6685055	6685055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacggtgggtgatcttggAgctgcggctgggcagttgga	6	10	19	6	2	1	1	0	1	1	0	1	4	1	3	0	6	3	4	0	6	1	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:6685055A>G	ENST00000245907.6	-	30	4005	c.3913T>C	c.(3913-3915)Tcc>Ccc	p.S1305P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1305					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTGATCTTGGAGCTGCGGCTG	0.582													3	52					0	0	0	0	G	6685055	A	G	6685055	3	3	430	1	0	0	0	0	1	0	0	0	2224	304	11	5	1126	5	C3	19	6685055	Missense_Mutation	SNP	A	TCGA-IQ-7630-01A-11D-2078-08	895562	6685055	52443928	121	85269											
RDH8	50700	broad.mit.edu	37	chr19	10124179	10124179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggggatcaacatggcCgctgcaccccggactgtgtt	8	7	15	11	2	1	0	1	0	0	0	1	3	1	3	3	5	2	3	3	5	1	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:10124179C>T	ENST00000591589.1	+	1	255	c.66C>T	c.(64-66)gcC>gcT	p.A22A	RDH8_ENST00000171214.1_Silent_p.A2A			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	2					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCAACATGGCCGCTGCACCCC	0.607													14	28					0	0	0	0	T	10124179	C	T	10124179	2	4	430	1	0	0	0	0	0	0	0	1	13278	639	23	1		1	RDH8	19	10124179	Silent	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	3439124	10124179	49004804	122	85270											
OR7A17	26333	broad.mit.edu	37	chr19	14992152	14992152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattctgaaatccctgtgtCattctctggttccatctttt	8	18	5	10	0	4	1	1	1	3	0	7	1	6	1	2	1	0	1	2	1	2	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:14992152C>G	ENST00000327462.2	-	1	112	c.16G>C	c.(16-18)Gac>Cac	p.D6H		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ATCCCTGTGTCATTCTCTGGT	0.363													9	13					0	0	0	0	G	14992152	C	G	14992152	3	3	430	1	0	0	0	0	1	0	0	0	11286	826	29	2	915	2	OR7A17	19	14992152	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	4867973	14992152	44136831	123	85271											
LSR	51599	broad.mit.edu	37	chr19	35757379	35757379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatgattcccatgggccCtgcctacaacgggtaccctg	8	9	10	14	1	0	1	0	1	0	0	1	1	1	1	4	2	5	2	4	2	4	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:35757379C>A	ENST00000602122.1	+	5	1470	c.983C>A	c.(982-984)cCt>cAt	p.P328H	LSR_ENST00000361790.3_Missense_Mutation_p.P347H|LSR_ENST00000360798.3_Missense_Mutation_p.P279H|LSR_ENST00000347609.4_Missense_Mutation_p.P310H|LSR_ENST00000354900.3_Missense_Mutation_p.P328H|LSR_ENST00000427250.1_Missense_Mutation_p.P191H			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	347					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCATGGGCCCTGCCTACAAC	0.627													19	24					2.4624e-09	2.68374e-09	1	0	A	35757379	C	A	35757379	3	1	430	1	0	0	0	0	1	0	0	0	9128	681	24	4	1062	4	LSR	19	35757379	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	20765227	35757379	23371604	124	85272											
FBXO27	126433	broad.mit.edu	37	chr19	39521762	39521762	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgcttcttgcaacacCagctgggaatgcaggagaca	12	7	11	11	0	1	2	0	0	1	2	1	4	1	3	2	2	5	4	2	2	2	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:39521762C>T	ENST00000292853.4	-	4	598	c.479G>A	c.(478-480)tGg>tAg	p.W160*	FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W160*|FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W159*|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	160	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTTGCAACACCAGCTGGGAAT	0.537													28	41					0	0	0	0	T	39521762	C	T	39521762	4	4	430	1	0	0	0	0	0	1	0	0	5782	595	21	4	384	4	FBXO27	19	39521762	Nonsense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	3764383	39521762	19607221	125	85273											
PLEKHG2	64857	broad.mit.edu	37	chr19	39905661	39905661	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccatggcctcccccCgaggttctgggagctccaca	6	6	9	20	1	1	0	0	0	1	0	3	2	3	1	8	3	1	2	8	3	0	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:39905661C>T	ENST00000425673.1	+	3	464	c.139C>T	c.(139-141)Cga>Tga	p.R47*	PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.R47*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.R47*|PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.R47*|PLEKHG2_ENST00000458508.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	47					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTCCCCCCGAGGTTCTGG	0.652													4	3					0	0	0	0	T	39905661	C	T	39905661	4	4	430	1	0	0	0	0	0	1	0	0	12141	644	23	1	145	1	PLEKHG2	19	39905661	Nonsense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	383899	39905661	19223322	126	85274											
CADM4	199731	broad.mit.edu	37	chr19	44131798	44131798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccccagcactcaccaCgggtgccattgaagaagagg	10	6	12	13	1	1	3	1	1	0	2	2	3	2	3	4	3	2	1	4	3	2	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:44131798C>T	ENST00000222374.2	-	2	257	c.209G>A	c.(208-210)cGt>cAt	p.R70H		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	70	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCACTCACCACGGGTGCCATT	0.582													21	68					0	0	0	0	T	44131798	C	T	44131798	3	4	430	1	0	0	0	0	1	0	0	0	2594	536	19	1	989	1	CADM4	19	44131798	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	4226137	44131798	14997185	127	85275											
HIF3A	64344	broad.mit.edu	37	chr19	46842835	46842835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaggacactacccagcccGggggccccttccagccaagg	9	3	12	17	2	0	0	0	0	0	0	1	2	1	1	6	4	3	0	6	4	2	2	rs143456536		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:46842835G>A	ENST00000339613.2	+	15	2053	c.1798G>A	c.(1798-1800)Ggg>Agg	p.G600R	HIF3A_ENST00000244303.6_Missense_Mutation_p.G587R|HIF3A_ENST00000377670.4_Missense_Mutation_p.G656R|HIF3A_ENST00000300862.3_Missense_Mutation_p.G654R|AC007193.10_ENST00000596807.1_RNA			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			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)		TACCCAGCCCGGGGGCCCCTT	0.577													15	74					0	0	0	0	A	46842835	G	A	46842835	3	1	430	1	0	0	0	0	1	0	0	0	7155	1116	39	1	2048	1	HIF3A	19	46842835	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	2711037	46842835	12286148	128	85276											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423751	47423751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttatattgggcaaagacGgccttgcccgagagttggcc	8	10	14	9	2	0	2	0	0	0	2	0	3	0	2	3	4	1	3	3	4	3	5			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:47423751G>A	ENST00000404338.3	+	1	1819	c.1819G>A	c.(1819-1821)Ggc>Agc	p.G607S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	607					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GGGCAAAGACGGCCTTGCCCG	0.433													62	97					0	0	0	0	A	47423751	G	A	47423751	3	1	430	1	0	0	0	0	1	0	0	0	6845	1116	39	1	1821	1	ARHGAP35	19	47423751	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	580916	47423751	11705232	129	85277											
C5AR1	728	broad.mit.edu	37	chr19	47823721	47823721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcatcctgctccggacGtggagccgcagggccacgcg	6	7	13	15	5	1	0	1	0	0	0	3	2	3	2	4	3	2	2	4	3	0	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:47823721G>A	ENST00000355085.3	+	2	709	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	229					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGCTCCGGACGTGGAGCCGCA	0.617													37	83					0	0	0	0	A	47823721	G	A	47823721	2	1	430	1	0	0	0	0	0	0	0	1	2302	1132	40	1		1	C5AR1	19	47823721	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	399970	47823721	11305262	130	85278											
CCDC114	93233	broad.mit.edu	37	chr19	48806034	48806034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtgcaccttgtccatgCgctgctgcaacaccttctgc	6	10	9	16	2	1	0	0	0	1	0	2	1	2	0	4	0	6	4	4	0	1	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:48806034C>T	ENST00000315396.7	-	10	1728	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	349										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTTGTCCATGCGCTGCTGCAA	0.632													29	61					0	0	0	0	T	48806034	C	T	48806034	3	4	430	1	0	0	0	0	1	0	0	0	2776	768	27	1	986	1	CCDC114	19	48806034	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	982313	48806034	10322949	131	85279											
NTF4	4909	broad.mit.edu	37	chr19	49564963	49564963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacccagccactgactgcatCgcacacagccagctcacccc	10	4	6	21	1	1	1	1	1	0	0	2	1	1	1	5	0	4	3	5	0	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:49564963C>G	ENST00000301411.3	-	2	432	c.292G>C	c.(292-294)Gat>Cat	p.D98H	NTF4_ENST00000593537.1_Missense_Mutation_p.D98H|NTF4_ENST00000451356.2_Intron	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	98					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTGACTGCATCGCACACAGCC	0.697													6	15					0	0	0	0	G	49564963	C	G	49564963	3	3	430	1	0	0	0	0	1	0	0	0	10768	884	31	3	344	3	NTF4	19	49564963	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	758929	49564963	9564020	132	85280											
SIGLEC11	114132	broad.mit.edu	37	chr19	50461907	50461907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccactcacagtgcacGgagaggctgagagagacgtg	10	6	13	12	2	1	3	1	1	0	3	2	6	2	3	2	2	1	2	2	2	0	1	rs139230914		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:50461907G>A	ENST00000447370.2	-	7	1446	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	SIGLEC11_ENST00000426971.2_Silent_p.S452S	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	452	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACAGTGCACGGAGAGGCTGA	0.652													21	89					0	0	0	0	A	50461907	G	A	50461907	2	1	430	1	0	0	0	0	0	0	0	1	14395	1103	39	1		1	SIGLEC11	19	50461907	Silent	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	896944	50461907	8667076	133	85281											
NLRP11	204801	broad.mit.edu	37	chr19	56321143	56321143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattcccacgtgtgggcCttgaggagatgaggaaccag	10	9	13	9	1	0	3	0	2	0	1	1	5	1	4	3	3	1	0	3	3	2	3			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:56321143C>A	ENST00000443188.1	-	5	1543	c.833G>T	c.(832-834)aGg>aTg	p.R278M	NLRP11_ENST00000589824.2_Missense_Mutation_p.R278M|NLRP11_ENST00000360133.3_Missense_Mutation_p.R278M|NLRP11_ENST00000592953.1_Missense_Mutation_p.R179M|NLRP11_ENST00000589093.1_Missense_Mutation_p.R278M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	278	NACHT.						ATP binding			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)		ACGTGTGGGCCTTGAGGAGAT	0.463													13	43					0.000151284	0.000160378	1	0	A	56321143	C	A	56321143	3	1	430	1	0	0	0	0	1	0	0	0	10543	681	24	4	2300	4	NLRP11	19	56321143	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	5859236	56321143	2807840	134	85282											
ZNF749	388567	broad.mit.edu	37	chr19	57955756	57955756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggctttataagtgtagcGaatgtgggaaagcctttagc	13	11	12	5	1	0	0	0	0	0	0	0	2	0	1	1	2	3	2	1	2	7	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:57955756G>A	ENST00000334181.4	+	3	1490	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAAGTGTAGCGAATGTGGGAA	0.428													26	58					0	0	0	0	A	57955756	G	A	57955756	3	1	430	1	0	0	0	0	1	0	0	0	18225	1059	37	1	1250	1	ZNF749	19	57955756	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	1634613	57955756	1173227	135	85283											
CSRP2BP	57325	broad.mit.edu	37	chr20	18123437	18123437	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatcgtcgaatccgaggatCaggcatcagtggacttatcg	10	10	12	9	4	2	1	2	1	0	0	6	5	3	3	1	3	0	1	1	3	2	1			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:18123437C>G	ENST00000278816.2	+	2	783	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	PET117_ENST00000432901.2_3'UTR|CSRP2BP_ENST00000604915.1_Missense_Mutation_p.Q45E|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.Q45E|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.Q45E			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	45					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCGAGGATCAGGCATCAGT	0.547													11	103					0	0	0	0	G	18123437	C	G	18123437	3	3	430	1	0	0	0	0	1	0	0	0	4000	827	29	2	135	2	CSRP2BP	20	18123437	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		18123437	44902083	136	85284											
MATN4	8785	broad.mit.edu	37	chr20	43930045	43930045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggaattgacgcagtggtGctcacatccatgggtccctt	7	11	13	10	1	1	1	1	1	0	0	3	2	3	2	2	4	1	2	2	4	1	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:43930045G>A	ENST00000537548.1	-	5	926	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	MATN4_ENST00000372753.1_Missense_Mutation_p.H79Y|MATN4_ENST00000372756.1_Missense_Mutation_p.H228Y|MATN4_ENST00000342716.4_Missense_Mutation_p.H228Y|MATN4_ENST00000372754.1_Missense_Mutation_p.H269Y|MATN4_ENST00000372751.4_Missense_Mutation_p.H79Y|MATN4_ENST00000360607.5_Intron|MATN4_ENST00000353917.5_Intron			O95460	MATN4_HUMAN	matrilin 4	269	EGF-like 1; incomplete.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACGCAGTGGTGCTCACATCCA	0.557													22	32					0	0	0	0	A	43930045	G	A	43930045	3	1	430	1	0	0	0	0	1	0	0	0	9405	1319	46	4	1091	4	MATN4	20	43930045	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	25806608	43930045	19095475	137	85285											
PARD6B	84612	broad.mit.edu	37	chr20	49354499	49354499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagatccccaatgttgacGttttggtaggctatgcagac	11	12	10	8	1	0	3	0	1	0	2	1	3	1	3	2	2	1	5	2	2	4	6	rs142377445		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:49354499G>A	ENST00000371610.2	+	2	415	c.172G>A	c.(172-174)Gtt>Att	p.V58I	PARD6B_ENST00000396039.1_Missense_Mutation_p.V58I	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	58	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CAATGTTGACGTTTTGGTAGG	0.383													35	37					0	0	0	0	A	49354499	G	A	49354499	3	1	430	1	0	0	0	0	1	0	0	0	11517	1145	40	1	178	1	PARD6B	20	49354499	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	5424454	49354499	13671021	138	85286											
GNAS	2778	broad.mit.edu	37	chr20	57415178	57415178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggatggatcggaggtcccGggctcagcagtggcgccgag	7	5	19	10	4	1	0	1	0	0	0	3	5	2	3	2	6	1	2	2	6	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:57415178G>A	ENST00000313949.7	+	1	406	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R6Q|GNAS_ENST00000371098.2_Missense_Mutation_p.R6Q			P63092	GNAS2_HUMAN	GNAS complex locus	0				N -> T (in Ref. 3; CAA30084).	activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGGAGGTCCCGGGCTCAGCAG	0.667			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			30	30					0	0	0	0	A	57415178	G	A	57415178	3	1	430	1	0	0	0	0	1	0	0	0	6561	1116	39	1	19	1	GNAS	20	57415178	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	8060679	57415178	5610342	139	85287											
GNAS	2778	broad.mit.edu	37	chr20	57430002	57430002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagagcagccgcggccGccgcgtgtactacgatgaag	8	5	15	13	7	0	2	0	1	0	1	1	4	1	2	4	1	4	2	4	1	3	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:57430002G>A	ENST00000371100.4	+	1	2234	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R561H|GNAS_ENST00000371102.4_Missense_Mutation_p.R561H|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A498T	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCGCGGCCGCCGCGTGTAC	0.687			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			5	4					0	0	0	0	A	57430002	G	A	57430002	3	1	430	1	0	0	0	0	1	0	0	0	6561	1087	38	1	2426	1	GNAS	20	57430002	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	14824	57430002	5595518	140	85288											
BIRC7	79444	broad.mit.edu	37	chr20	61870794	61870794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggcgcagctgcggcGgctgcaggaggagaggacgt	7	5	21	8	4	0	1	0	0	0	1	0	5	0	4	0	7	3	4	0	7	0	0			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:61870794G>T	ENST00000217169.3	+	6	948	c.734G>T	c.(733-735)cGg>cTg	p.R245L	BIRC7_ENST00000395306.1_Missense_Mutation_p.R140L|BIRC7_ENST00000342412.6_Missense_Mutation_p.R227L	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	245					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CAGCTGCGGCGGCTGCAGGAG	0.692													27	31					4.39465e-27	5.04474e-27	1	0	T	61870794	G	T	61870794	3	4	430	1	0	0	0	0	1	0	0	0	1444	1116	39	3	756	3	BIRC7	20	61870794	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08	4440792	61870794	1154726	141	85289											
DSCAM	1826	broad.mit.edu	37	chr21	41561106	41561106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcgccgtgcagctcatctCctttttctgcccctgcgtgg	3	13	10	15	3	3	0	1	0	2	0	4	0	3	0	4	1	5	2	4	1	0	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr21:41561106C>T	ENST00000400454.1	-	12	2893	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	806	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E806K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCTCATCTCCTTTTTCTGC	0.507													23	45					0	0	0	0	T	41561106	C	T	41561106	3	4	430	1	0	0	0	0	1	0	0	0	4804	864	30	2	3710	2	DSCAM	21	41561106	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		41561106	6568789	142	85290											
NF2	4771	broad.mit.edu	37	chr22	30061031	30061031	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcttcaagtttaactcctCaaagcttcgtgttaataagc	11	15	6	9	1	3	0	2	0	1	0	5	0	4	0	1	0	3	3	1	0	5	6			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr22:30061031C>G	ENST00000338641.4	+	9	1304	c.863C>G	c.(862-864)tCa>tGa	p.S288*	NF2_ENST00000361676.4_Nonsense_Mutation_p.S246*|NF2_ENST00000361166.4_Nonsense_Mutation_p.S288*|NF2_ENST00000334961.7_Nonsense_Mutation_p.S205*|NF2_ENST00000353887.4_Nonsense_Mutation_p.S205*|NF2_ENST00000403999.3_Nonsense_Mutation_p.S288*|NF2_ENST00000403435.1_Nonsense_Mutation_p.S288*|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Nonsense_Mutation_p.S288*|NF2_ENST00000361452.4_Nonsense_Mutation_p.S247*|NF2_ENST00000347330.5_Nonsense_Mutation_p.S129*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	288	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTTAACTCCTCAAAGCTTCGT	0.353			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				2	9					0	0	0	0	G	30061031	C	G	30061031	4	3	430	1	0	0	0	0	0	1	0	0	10427	838	29	2	897	2	NF2	22	30061031	Nonsense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08		30061031	21243535	143	85291											
MYH9	4627	broad.mit.edu	37	chr22	36708123	36708123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtggataatgcagaaatCagctttgtccttcagctgct	11	13	9	8	0	2	1	2	0	0	1	3	2	3	2	1	1	4	4	1	1	3	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr22:36708123C>T	ENST00000216181.5	-	14	1929	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	567	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATGCAGAAATCAGCTTTGTCC	0.582			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				27	28					0	0	0	0	T	36708123	C	T	36708123	3	4	430	1	0	0	0	0	1	0	0	0	10112	826	29	2	4295	2	MYH9	22	36708123	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	6647092	36708123	14596443	144	85292											
DMD	1756	broad.mit.edu	37	chrX	32328384	32328384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatcatcgtttcttcacGgacagtgtgctggtatagat	9	13	9	10	2	3	1	2	0	1	1	4	2	3	2	1	2	1	3	1	2	2	4			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:32328384G>A	ENST00000357033.4	-	42	6138	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMD_ENST00000378677.2_Missense_Mutation_p.R1974C	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	1978					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			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)				GTTTCTTCACGGACAGTGTGC	0.378													8	5					0	0	0	0	A	32328384	G	A	32328384	3	1	430	1	0	0	0	0	1	0	0	0	4617	1116	39	1	5425	1	DMD	23	32328384	Missense_Mutation	SNP	G	TCGA-IQ-7630-01A-11D-2078-08		32328384	122942176	145	85293											
PHKA1	5255	broad.mit.edu	37	chrX	71800893	71800893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcaggaactcctgcaCgtaggtggcggctgccttgg	5	8	18	10	2	0	0	0	0	0	0	1	1	1	1	2	7	3	4	2	7	2	2			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:71800893C>T	ENST00000373545.3	-	32	3943	c.3505G>A	c.(3505-3507)Gtg>Atg	p.V1169M	PHKA1_ENST00000339490.3_Missense_Mutation_p.V1198M|PHKA1_ENST00000541944.1_Missense_Mutation_p.V1139M|PHKA1_ENST00000373539.3_Missense_Mutation_p.V1228M|PHKA1_ENST00000373542.4_Missense_Mutation_p.V1211M			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1211					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AACTCCTGCACGTAGGTGGCG	0.567													7	8					0	0	0	0	T	71800893	C	T	71800893	3	4	430	1	0	0	0	0	1	0	0	0	11915	536	19	1	44	1	PHKA1	23	71800893	Missense_Mutation	SNP	C	TCGA-IQ-7630-01A-11D-2078-08	39472509	71800893	83469667	146	85294											
CT47B1	643311	broad.mit.edu	37	chrX	120008979	120008979	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgaggccctcgccttcTggggctgcagcccctgcacc	4	6	13	18	2	1	0	0	0	1	0	2	1	1	0	6	4	3	3	6	4	0	1	rs871733	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:120008979T>C	ENST00000371311.3	-	1	800	c.546A>G	c.(544-546)ccA>ccG	p.P182P		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	182										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCGCCTTCTGGGGCTGCAG	0.711													3	26					0	0	0	0	C	120008979	T	C	120008979	2	2	430	1	0	0	0	0	0	0	0	1	4021	1567	55	5		5	CT47B1	23	120008979	Silent	SNP	T	TCGA-IQ-7630-01A-11D-2078-08	48208086	120008979	35261581	147	85295											
CAMTA1	23261	broad.mit.edu	37	chr1	7812556	7812556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagcaggatcaagctgctCgaaaaataatgaggtttctt	16	10	9	6	1	2	1	1	1	1	0	3	3	2	2	0	2	3	4	0	2	6	3			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:7812556C>T	ENST00000303635.7	+	21	5128	c.4921C>T	c.(4921-4923)Cga>Tga	p.R1641*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.R1627*|CAMTA1_ENST00000476864.1_Nonsense_Mutation_p.R205*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAAGCTGCTCGAAAAATAAT	0.423			T	WWTR1	epitheliod hemangioendothelioma								11	11					0	0	0	0	T	7812556	C	T	7812556	4	4	431	1	0	0	0	0	0	1	0	0	2638	876	31	1	5003	1	CAMTA1	1	7812556	Nonsense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		7812556	241438065	1	85296											
KIAA1522	57648	broad.mit.edu	37	chr1	33236052	33236052	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcaatcctccgacacCattgtgtctgacggttccac	8	11	6	16	2	2	1	1	1	2	0	6	2	5	1	4	1	0	1	4	1	1	2			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:33236052C>T	ENST00000401073.2	+	6	1342	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KIAA1522_ENST00000373480.1_Silent_p.T365T|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.T376T	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	365	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCCGACACCATTGTGTCTG	0.652													12	17					0	0	0	0	T	33236052	C	T	33236052	2	4	431	1	0	0	0	0	0	0	0	1	8289	581	21	4		4	KIAA1522	1	33236052	Silent	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	25423496	33236052	216014569	2	85297											
DYRK3	8444	broad.mit.edu	37	chr1	206822243	206822243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagccaataagcttaaagCtaacttaatgtcagaaacca	19	9	5	8	0	1	1	1	0	0	1	1	1	1	1	2	0	5	2	2	0	9	5			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:206822243C>G	ENST00000367106.1	+	4	2113	c.1640C>G	c.(1639-1641)gCt>gGt	p.A547G	DYRK3_ENST00000367108.3_Missense_Mutation_p.A547G|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.A567G			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	567					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGCTTAAAGCTAACTTAATG	0.438													24	41					0	0	0	0	G	206822243	C	G	206822243	3	3	431	1	0	0	0	0	1	0	0	0	4893	797	28	4	1731	4	DYRK3	1	206822243	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	173586191	206822243	42428378	3	85298											
SPATA17	128153	broad.mit.edu	37	chr1	217955575	217955575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaggcctttggagccaacGttgcgggtggcagaaccaat	10	8	13	10	2	0	1	0	0	0	1	0	2	0	2	3	4	5	2	3	4	4	3	rs139943258	by1000genomes	TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:217955575G>A	ENST00000366933.4	+	8	838	c.783G>A	c.(781-783)acG>acA	p.T261T	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	261						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGGAGCCAACGTTGCGGGTGG	0.448													20	39					0	0	0	0	A	217955575	G	A	217955575	2	1	431	1	0	0	0	0	0	0	0	1	15092	1132	40	1		1	SPATA17	1	217955575	Silent	SNP	G	TCGA-IQ-7631-01A-11D-2078-08	11133332	217955575	31295046	4	85299											
SNAP47	116841	broad.mit.edu	37	chr1	227968341	227968341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaccttgaccatcgaCaagcacaacaggcggatgaa	15	4	11	11	2	0	2	0	2	0	0	1	4	0	3	2	3	3	2	2	3	4	1			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:227968341C>T	ENST00000366759.4	+	5	1776	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D	SNAP47_ENST00000366760.1_Silent_p.D212D	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	454	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGACCATCGACAAGCACAACA	0.622													13	19					0	0	0	0	T	227968341	C	T	227968341	2	4	431	1	0	0	0	0	0	0	0	1	14920	477	17	4		4	SNAP47	1	227968341	Silent	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	10012766	227968341	21282280	5	85300											
ATAD2B	54454	broad.mit.edu	37	chr2	24111244	24111244	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccactatgtccatttggtaAtgtagcaccaggctgagaag	11	10	11	9	0	0	1	0	1	0	1	1	2	1	1	3	2	1	4	3	2	4	4			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:24111244A>G	ENST00000238789.5	-	3	737	c.394T>C	c.(394-396)Tta>Cta	p.L132L		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	132							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTTGGTAATGTAGCACCA	0.313													2	13					0	0	0	0	G	24111244	A	G	24111244	2	3	431	1	0	0	0	0	0	0	0	1	1076	98	4	5		5	ATAD2B	2	24111244	Silent	SNP	A	TCGA-IQ-7631-01A-11D-2078-08		24111244	219088129	6	85301											
SOS1	6654	broad.mit.edu	37	chr2	39283893	39283893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttgtaatttcataatGccgtatatttcttacataat	11	21	4	5	1	2	0	1	0	1	0	2	0	2	0	1	0	2	3	1	0	6	11			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:39283893G>A	ENST00000426016.1	-	5	546	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	SOS1_ENST00000402219.2_Missense_Mutation_p.H154Y|SOS1_ENST00000395038.2_Missense_Mutation_p.H154Y|SOS1_ENST00000428721.2_Missense_Mutation_p.H97Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	154					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTCATAATGCCGTATATTT	0.313									Noonan syndrome				68	133					0	0	0	0	A	39283893	G	A	39283893	3	1	431	1	0	0	0	0	1	0	0	0	15024	1319	46	4	3621	4	SOS1	2	39283893	Missense_Mutation	SNP	G	TCGA-IQ-7631-01A-11D-2078-08	15172649	39283893	203915480	7	85302											
DQX1	165545	broad.mit.edu	37	chr2	74746713	74746713	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcctgacaccagtgctttCtgaaggtctctgcgattctg	7	14	9	11	1	3	2	0	2	3	0	5	3	4	2	2	1	2	1	2	1	2	3			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:74746713C>T	ENST00000404568.3	-	10	1995	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	DQX1_ENST00000393951.2_Silent_p.Q592Q	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	592						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CCAGTGCTTTCTGAAGGTCTC	0.483													42	68					0	0	0	0	T	74746713	C	T	74746713	2	4	431	1	0	0	0	0	0	0	0	1	4787	912	32	2		2	DQX1	2	74746713	Silent	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	35462820	74746713	168452660	8	85303											
OBSL1	23363	broad.mit.edu	37	chr2	220432968	220432968	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggatgcgggagttgggtActttacattccagcacggca	8	10	15	8	2	0	0	0	0	0	0	1	2	1	2	1	5	4	4	1	5	2	5			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:220432968A>C	ENST00000404537.1	-	2	1147	c.1091T>G	c.(1090-1092)gTa>gGa	p.V364G	OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000373873.4_Missense_Mutation_p.V364G|OBSL1_ENST00000373876.1_Missense_Mutation_p.V364G|OBSL1_ENST00000265318.4_Missense_Mutation_p.V364G|OBSL1_ENST00000603926.1_Missense_Mutation_p.V364G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	364	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAGTTGGGTACTTTACATTC	0.662											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	15					0	0	0	0	C	220432968	A	C	220432968	3	2	431	1	0	0	0	0	1	0	0	0	10884	391	14	5	4831	5	OBSL1	2	220432968	Missense_Mutation	SNP	A	TCGA-IQ-7631-01A-11D-2078-08	145686255	220432968	22766405	9	85304											
ZCCHC4	29063	broad.mit.edu	37	chr4	25363860	25363860	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctagattttgctctccGtgtcaacggtatgtttctct	6	18	7	10	2	4	1	1	0	3	1	6	1	4	1	1	1	3	3	1	1	4	6			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr4:25363860G>A	ENST00000302874.4	+	10	1170	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	382			P -> L (in dbSNP:rs3752873).				methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTGCTCTCCGTGTCAACGGT	0.338													10	23					0	0	0	0	A	25363860	G	A	25363860	2	1	431	1	0	0	0	0	0	0	0	1	17685	1132	40	1		1	ZCCHC4	4	25363860	Silent	SNP	G	TCGA-IQ-7631-01A-11D-2078-08		25363860	165790416	10	85305											
GFPT2	9945	broad.mit.edu	37	chr5	179765551	179765551	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgatgagggtttcgaaGatctccttcctcgtccgggg	5	12	12	12	3	1	3	0	2	1	1	6	4	3	3	4	3	0	1	4	3	1	3			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr5:179765551G>T	ENST00000253778.8	-	2	226	c.57C>A	c.(55-57)atC>atA	p.I19I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	19	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGGTTTCGAAGATCTCCTTCC	0.557													16	18					8.60227e-14	9.3503e-14	1	0	T	179765551	G	T	179765551	2	4	431	1	0	0	0	0	0	0	0	1	6397	932	33	2		2	GFPT2	5	179765551	Silent	SNP	G	TCGA-IQ-7631-01A-11D-2078-08		179765551	1149709	11	85306											
SKIV2L	6499	broad.mit.edu	37	chr6	31930806	31930806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatcatgctacctgaccaCgtttctatcatccttctgag	8	15	5	13	1	4	2	2	2	2	0	5	2	5	2	3	0	2	2	3	0	3	5			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr6:31930806C>T	ENST00000375394.2	+	13	1454	c.1341C>T	c.(1339-1341)caC>caT	p.H447H	SKIV2L_ENST00000544581.1_Silent_p.H254H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	447	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TACCTGACCACGTTTCTATCA	0.617													17	30					0	0	0	0	T	31930806	C	T	31930806	2	4	431	1	0	0	0	0	0	0	0	1	14447	535	19	1		1	SKIV2L	6	31930806	Silent	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		31930806	139184261	12	85307											
TRRAP	8295	broad.mit.edu	37	chr7	98547146	98547146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccagacggctgtgcGccccggttcgcccagcacca	5	5	14	17	4	0	1	0	0	0	1	1	1	0	1	5	3	3	3	5	3	0	1	rs3735363		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:98547146G>A	ENST00000359863.4	+	35	5083	c.4874G>A	c.(4873-4875)cGc>cAc	p.R1625H	TRRAP_ENST00000355540.3_Missense_Mutation_p.R1607H|TRRAP_ENST00000446306.3_Missense_Mutation_p.R1606H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1625					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R1607H(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACGGCTGTGCGCCCCGGTTCG	0.637													21	34					0	0	0	0	A	98547146	G	A	98547146	3	1	431	1	0	0	0	0	1	0	0	0	16696	1087	38	1	4950	1	TRRAP	7	98547146	Missense_Mutation	SNP	G	TCGA-IQ-7631-01A-11D-2078-08		98547146	60591517	13	85308											
SERPINE1	5054	broad.mit.edu	37	chr7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccaagagcctctccacGtcgcgcaggcgctgcagaaa	11	4	11	15	4	1	3	0	0	1	3	3	3	1	3	3	1	2	3	3	1	2	0			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:100779013G>A	ENST00000223095.4	+	7	1175	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	SERPINE1_ENST00000445463.2_Missense_Mutation_p.V325I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	340					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.V340I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582													16	58					0	0	0	0	A	100779013	G	A	100779013	3	1	431	1	0	0	0	0	1	0	0	0	14198	1145	40	1	1040	1	SERPINE1	7	100779013	Missense_Mutation	SNP	G	TCGA-IQ-7631-01A-11D-2078-08	2231867	100779013	58359650	14	85309											
CNTNAP2	26047	broad.mit.edu	37	chr7	146741040	146741040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacggtgtggtccggcaCgaattacagcatccgattat	9	11	11	10	4	1	1	0	1	1	0	3	3	3	1	2	3	2	2	2	3	3	2			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:146741040C>T	ENST00000361727.3	+	4	960	c.444C>T	c.(442-444)caC>caT	p.H148H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	148	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.H148H(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)			TGGTCCGGCACGAATTACAGC	0.423										HNSCC(39;0.1)			29	88					0	0	0	0	T	146741040	C	T	146741040	2	4	431	1	0	0	0	0	0	0	0	1	3677	535	19	1		1	CNTNAP2	7	146741040	Silent	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	45962027	146741040	12397623	15	85310											
ZNF862	643641	broad.mit.edu	37	chr7	149545305	149545305	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcactgcagattgccccatAttctaccccccagggcctct	7	11	6	17	0	3	1	1	0	2	1	3	1	3	1	6	1	3	1	6	1	2	5			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:149545305A>C	ENST00000223210.4	+	4	968	c.723A>C	c.(721-723)atA>atC	p.I241I		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ATTGCCCCATATTCTACCCCC	0.607													8	14					0	0	0	0	C	149545305	A	C	149545305	2	2	431	1	0	0	0	0	0	0	0	1	18288	439	16	5		5	ZNF862	7	149545305	Silent	SNP	A	TCGA-IQ-7631-01A-11D-2078-08	2804265	149545305	9593358	16	85311											
DLC1	10395	broad.mit.edu	37	chr8	12950234	12950234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacggctgctgtgacatcGctcaggaaataaagcagggt	11	10	12	8	2	1	1	1	1	0	0	2	2	1	2	0	3	3	4	0	3	4	3	rs142586910		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr8:12950234G>A	ENST00000276297.4	-	13	4036	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S	DLC1_ENST00000358919.2_Silent_p.S772S|DLC1_ENST00000520226.1_Silent_p.S698S|DLC1_ENST00000512044.2_Silent_p.S806S|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1209	Rho-GAP.		S -> C (in dbSNP:rs1044094).		actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGTGACATCGCTCAGGAAAT	0.562													10	18					0	0	0	0	A	12950234	G	A	12950234	2	1	431	1	0	0	0	0	0	0	0	1	4587	1078	38	1		1	DLC1	8	12950234	Silent	SNP	G	TCGA-IQ-7631-01A-11D-2078-08		12950234	133413788	17	85312											
SPIN1	10927	broad.mit.edu	37	chr9	91041469	91041469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgaatgaagaccccattCggaaagacacctggccagcg	14	5	11	11	2	0	5	0	2	0	3	1	6	0	6	4	2	1	0	4	2	3	1			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr9:91041469C>T	ENST00000375859.3	+	2	293	c.15C>T	c.(13-15)ttC>ttT	p.F5F	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Silent_p.F5F	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	5					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AGACCCCATTCGGAAAGACAC	0.388													11	23					0	0	0	0	T	91041469	C	T	91041469	2	4	431	1	0	0	0	0	0	0	0	1	15142	883	31	1		1	SPIN1	9	91041469	Silent	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		91041469	50171962	18	85313											
PLAU	5328	broad.mit.edu	37	chr10	75673068	75673068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacccagacaaccggaggcGaccctggtgctatgtgcagg	10	5	14	12	2	0	1	0	0	0	1	0	4	0	2	3	4	4	2	3	4	3	1			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:75673068G>A	ENST00000446342.1	+	5	820	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.R130Q|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.R94Q|C10orf55_ENST00000412307.2_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	130	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AACCGGAGGCGACCCTGGTGC	0.572													44	61					0	0	0	0	A	75673068	G	A	75673068	3	1	431	1	0	0	0	0	1	0	0	0	12094	1058	37	1	445	1	PLAU	10	75673068	Missense_Mutation	SNP	G	TCGA-IQ-7631-01A-11D-2078-08		75673068	59861679	19	85314											
WAPAL	23063	broad.mit.edu	37	chr10	88259577	88259580	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															tttagttctttttttgcttgTctttctttctacttgacagt																										TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:88259577_88259580delTCTT	ENST00000298767.5	-	3	1892_1895	c.1420_1423delAAGA	c.(1420-1425)cafs	p.KT474fs		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	474	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTTTTGCTTGTCTTTCTTTCTACT	0.402													25	43	---	---	---	---					-	88259580	TCTT	-	88259577	7	5	431	1	0	1	0	1	0	0	0	0	17344	1667	58	0	2217	0	WAPAL	10	88259577	Frame_Shift_Del	DEL	TCTT	TCGA-IQ-7631-01A-11D-2078-08	12586509	88259577	47275170	20	85315											
GRK5	2869	broad.mit.edu	37	chr10	121156223	121156223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcagaatatgaagttaCtccagatgaaaaactgggag	16	9	11	5	0	0	4	0	2	0	2	1	5	1	5	1	2	2	2	1	2	7	3			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:121156223C>T	ENST00000392870.2	+	4	607	c.278C>T	c.(277-279)aCt>aTt	p.T93I	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	93	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TATGAAGTTACTCCAGATGAA	0.443													31	36					0	0	0	0	T	121156223	C	T	121156223	3	4	431	1	0	0	0	0	1	0	0	0	6842	565	20	4	292	4	GRK5	10	121156223	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	32896646	121156223	14378524	21	85316											
KNTC1	9735	broad.mit.edu	37	chr12	123073283	123073283	+	Frame_Shift_Del	DEL	A	A	-																															ttggagagactacattagttAaatcaaggcatgttgttatg																										TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr12:123073283delA	ENST00000333479.7	+	40	4096	c.3919delA	c.(3919-3921)aafs	p.K1307fs	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1307					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TACATTAGTTAAATCAAGGCA	0.274													2	4	---	---	---	---					-	123073283	A	-	123073283	7	5	431	1	0	1	0	1	0	0	0	0	8480	363	13	0	4073	0	KNTC1	12	123073283	Frame_Shift_Del	DEL	A	TCGA-IQ-7631-01A-11D-2078-08		123073283	10778612	22	85317											
ADAM10	102	broad.mit.edu	37	chr15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaagtgtccctcttcattCgtaggttgaaatgtctgtaa	9	14	11	7	1	3	1	1	1	2	0	5	2	4	2	1	2	0	3	1	2	4	5			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr15:58974499C>T	ENST00000260408.3	-	3	664	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	74					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTCTTCATTCGTAGGTTGAA	0.299													12	31					0	0	0	0	T	58974499	C	T	58974499	3	4	431	1	0	0	0	0	1	0	0	0	234	884	31	1	2081	1	ADAM10	15	58974499	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		58974499	43556893	23	85318											
IGDCC4	57722	broad.mit.edu	37	chr15	65682659	65682659	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggaggcaggggtggtcCcctctggataggcatgtctg	5	9	18	9	0	2	0	0	0	2	0	3	2	3	2	2	8	0	3	2	8	1	1			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr15:65682659C>A	ENST00000352385.2	-	13	2451	c.2242G>T	c.(2242-2244)Gga>Tga	p.G748*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	748						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGGGGTGGTCCCCTCTGGATA	0.498													3	30					0.004672	0.00476735	1	0	A	65682659	C	A	65682659	4	1	431	1	0	0	0	0	0	1	0	0	7622	632	22	4	1542	4	IGDCC4	15	65682659	Nonsense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	6708160	65682659	36848733	24	85319											
TPSAB1	7177	broad.mit.edu	37	chr16	1292129	1292129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcacctggctgcaggCgggcgtggtcagctggggcg	5	6	20	10	3	1	0	1	0	0	0	1	1	1	0	1	7	2	4	1	7	1	0			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:1292129C>T	ENST00000461509.2	+	5	931	c.737C>T	c.(736-738)gCg>gTg	p.A246V	TPSAB1_ENST00000338844.3_Missense_Mutation_p.A239V			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	239	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGGCTGCAGGCGGGCGTGGTC	0.672													8	26					0	0	0	0	T	1292129	C	T	1292129	3	4	431	1	0	0	0	0	1	0	0	0	16518	768	27	1	734	1	TPSAB1	16	1292129	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		1292129	89062624	25	85320											
CREBBP	1387	broad.mit.edu	37	chr16	3828020	3828020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaatccttacttggaggtCtcacaggttgtgcctgtgga	9	13	11	8	0	1	0	1	0	1	0	3	2	2	2	2	4	2	1	2	4	3	4			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:3828020C>G	ENST00000262367.5	-	10	2914	c.2105G>C	c.(2104-2106)aGa>aCa	p.R702T	CREBBP_ENST00000382070.3_Missense_Mutation_p.R664T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	702					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTGGAGGTCTCACAGGTTG	0.502			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						30	131					0	0	0	0	G	3828020	C	G	3828020	3	3	431	1	0	0	0	0	1	0	0	0	3891	913	32	2	5311	2	CREBBP	16	3828020	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	2535891	3828020	86526733	26	85321											
CCDC135	84229	broad.mit.edu	37	chr16	57734141	57734141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtgcccagtttgtctccGacttcctcaccatggtgccc	4	12	9	16	1	2	0	1	0	1	0	4	1	3	0	5	1	2	2	5	1	0	2			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:57734141G>A	ENST00000360716.3	+	5	684	c.463G>A	c.(463-465)Gac>Aac	p.D155N	CCDC135_ENST00000336825.8_Missense_Mutation_p.D155N|CCDC135_ENST00000394337.4_Missense_Mutation_p.D155N|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	155						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GTTTGTCTCCGACTTCCTCAC	0.582													29	89					0	0	0	0	A	57734141	G	A	57734141	3	1	431	1	0	0	0	0	1	0	0	0	2794	1058	37	1	473	1	CCDC135	16	57734141	Missense_Mutation	SNP	G	TCGA-IQ-7631-01A-11D-2078-08	53906121	57734141	32620612	27	85322											
MYH13	8735	broad.mit.edu	37	chr17	10204957	10204957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgatgtccgccctctccgCggcctcctctagctcatgct	4	10	9	18	4	3	0	1	0	2	0	6	1	5	0	5	1	3	2	5	1	1	1			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr17:10204957C>T	ENST00000418404.3	-	39	5894	c.5731G>A	c.(5731-5733)Gcg>Acg	p.A1911T	MYH13_ENST00000570743.1_Missense_Mutation_p.A1911T|MYH13_ENST00000252172.4_Missense_Mutation_p.A1911T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1911					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCCTCTCCGCGGCCTCCTCT	0.622													36	61					0	0	0	0	T	10204957	C	T	10204957	3	4	431	1	0	0	0	0	1	0	0	0	10102	768	27	1	93	1	MYH13	17	10204957	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		10204957	70990253	28	85323											
SALL3	27164	broad.mit.edu	37	chr18	76754998	76754998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcagccatactaaggagCggccattcgtctgcgcgctc	8	7	11	15	5	1	0	0	0	1	0	3	1	1	1	3	2	4	2	3	2	2	3			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr18:76754998C>T	ENST00000537592.2	+	2	3007	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TACTAAGGAGCGGCCATTCGT	0.537													14	37					0	0	0	0	T	76754998	C	T	76754998	3	4	431	1	0	0	0	0	1	0	0	0	13897	759	27	1	3013	1	SALL3	18	76754998	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		76754998	1322250	29	85324											
FCAR	2204	broad.mit.edu	37	chr19	55396849	55396849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcattgaccacatggaCgcaaacaaggcagggcgcta	12	7	11	11	3	1	1	1	1	0	0	2	2	1	2	1	3	1	3	1	3	3	3			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr19:55396849C>T	ENST00000355524.3	+	3	283	c.273C>T	c.(271-273)gaC>gaT	p.D91D	FCAR_ENST00000469767.1_Silent_p.D91D|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Silent_p.D79D|FCAR_ENST00000391726.3_Silent_p.D79D|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.D79D|FCAR_ENST00000391725.3_Silent_p.D91D|FCAR_ENST00000391724.3_Silent_p.D79D|FCAR_ENST00000345937.4_Silent_p.D91D	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	91	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ACCACATGGACGCAAACAAGG	0.483													14	35					0	0	0	0	T	55396849	C	T	55396849	2	4	431	1	0	0	0	0	0	0	0	1	5818	535	19	1		1	FCAR	19	55396849	Silent	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		55396849	3732134	30	85325											
SUN5	140732	broad.mit.edu	37	chr20	31571672	31571672	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagccatgcactcgcacGcggtacaggcaagtgaagcc	12	4	12	13	3	0	2	0	1	0	1	1	2	0	2	2	2	4	4	2	2	3	1			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr20:31571672G>A	ENST00000356173.3	-	13	1160	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R	SUN5_ENST00000375523.3_Silent_p.R331R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	356	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GCACTCGCACGCGGTACAGGC	0.562													40	75					0	0	0	0	A	31571672	G	A	31571672	2	1	431	1	0	0	0	0	0	0	0	1	15484	1074	38	1		1	SUN5	20	31571672	Silent	SNP	G	TCGA-IQ-7631-01A-11D-2078-08		31571672	31453848	31	85326											
FAM47A	158724	broad.mit.edu	37	chrX	34150181	34150181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaaaaactcgtcacggCgacaaacgagagtatcttcg	14	7	11	9	5	2	1	1	0	1	1	4	4	2	2	0	2	2	2	0	2	5	3			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:34150181C>T	ENST00000346193.3	-	1	266	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	72								p.R72H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCGTCACGGCGACAAACGAG	0.537													28	58					0	0	0	0	T	34150181	C	T	34150181	3	4	431	1	0	0	0	0	1	0	0	0	5616	768	27	1	2164	1	FAM47A	23	34150181	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08		34150181	121120379	32	85327			1	129		2	2	40	C		4.409279e-05
FAM47A	158724	broad.mit.edu	37	chrX	34150220	34150220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggagacggacagccgtagCggaagtcgtccatgccctcc	8	5	14	14	5	0	1	0	0	0	1	3	4	2	3	4	3	3	1	4	3	2	1			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:34150220C>T	ENST00000346193.3	-	1	227	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	59										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACAGCCGTAGCGGAAGTCGTC	0.557													32	47					0	0	0	0	T	34150220	C	T	34150220	3	4	431	1	0	0	0	0	1	0	0	0	5616	768	27	1	2203	1	FAM47A	23	34150220	Missense_Mutation	SNP	C	TCGA-IQ-7631-01A-11D-2078-08	39	34150220	121120340	33	85328			1	129		2	2	40	C		4.409279e-05
USP9X	8239	broad.mit.edu	37	chrX	41088917	41088919	+	In_Frame_Del	DEL	ACA	ACA	-																															tggcaatcctcagtacacttAcaacaattggtctcccccag																										TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:41088917_41088919delACA	ENST00000324545.7	+	43	7949_7951	c.7316_7318delACA	c.(7315-7320)tac>t	p.YN2439del	USP9X_ENST00000378308.2_In_Frame_Del_p.YN2439del	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2439					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGTACACTTACAACAATTGGTC	0.438													39	56	---	---	---	---					-	41088919	ACA	-	41088917	7	5	431	1	0	1	0	1	0	0	0	0	17186	391	14	0	7482	0	USP9X	23	41088917	In_Frame_Del	DEL	ACA	TCGA-IQ-7631-01A-11D-2078-08	6938697	41088917	114181643	34	85329											
MED12	9968	broad.mit.edu	37	chrX	70347218	70347218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaagcatgggatgaaccGgtccgatggctcctctgcag	8	8	14	11	3	1	2	0	2	1	0	3	4	3	3	3	3	3	3	3	3	2	0			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:70347218G>A	ENST00000333646.6	+	21	3081	c.2882G>A	c.(2881-2883)cGg>cAg	p.R961Q	MED12_ENST00000374102.1_Missense_Mutation_p.R961Q|MED12_ENST00000374080.3_Missense_Mutation_p.R961Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	961			R -> W (in OKS).		androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGATGAACCGGTCCGATGGC	0.522			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						10	23					0	0	0	0	A	70347218	G	A	70347218	3	1	431	1	0	0	0	0	1	0	0	0	9497	1116	39	1	2964	1	MED12	23	70347218	Missense_Mutation	SNP	G	TCGA-IQ-7631-01A-11D-2078-08	29258301	70347218	84923342	35	85330											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887574	12887574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttggacagtcctgcaCtggtgttttgttcctcttgg	4	16	10	11	0	1	0	0	0	1	0	4	1	4	1	3	3	1	3	3	3	0	5			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:12887574C>G	ENST00000535591.1	-	3	478	c.283G>C	c.(283-285)Gtg>Ctg	p.V95L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	95										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CAGTCCTGCACTGGTGTTTTG	0.498													11	236					0	0	0	0	G	12887574	C	G	12887574	3	3	432	1	0	0	0	0	1	0	0	0	12503	565	20	4	1035	4	PRAMEF11	1	12887574	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		12887574	236363047	1	85331											
TTF2	8458	broad.mit.edu	37	chr1	117624536	117624536	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaggaagaaaaggagAaaagcacagctttgacgtgg	20	4	13	4	1	0	4	0	1	0	3	0	6	0	5	0	3	2	2	0	3	7	1			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:117624536A>T	ENST00000369466.3	+	10	1914	c.1870A>T	c.(1870-1872)Aaa>Taa	p.K624*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	624	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGAAAAGGAGAAAAGCACAGC	0.453													5	53					0	0	0	0	T	117624536	A	T	117624536	4	4	432	1	0	0	0	0	0	1	0	0	16815	247	9	5	1908	5	TTF2	1	117624536	Nonsense_Mutation	SNP	A	TCGA-IQ-7632-01A-11D-2078-08	104736962	117624536	131626085	2	85332											
FLG	2312	broad.mit.edu	37	chr1	152280551	152280551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcttgactgctcctgagCagatccatgatggtttctgg	7	14	10	10	0	2	4	0	3	2	1	5	4	4	4	2	2	2	3	2	2	0	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:152280551C>A	ENST00000368799.1	-	3	6846	c.6811G>T	c.(6811-6813)Gct>Tct	p.A2271S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2271	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCTGAGCAGATCCATGA	0.582									Ichthyosis				25	264					5.45024e-15	8.33566e-15	1	0	A	152280551	C	A	152280551	3	1	432	1	0	0	0	0	1	0	0	0	5967	710	25	4	5378	4	FLG	1	152280551	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	34656015	152280551	96970070	3	85333											
SRGAP2	23380	broad.mit.edu	37	chr1	206628236	206628236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccccagcgaggacggtgtCgtggagaggtccagccccaa	8	5	14	14	3	0	1	0	0	0	1	3	4	2	2	5	4	2	0	5	4	1	0			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:206628236C>T	ENST00000414007.1	+	17	1953	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Silent_p.V96V			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	791	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGGACGGTGTCGTGGAGAGGT	0.597													4	34					0	0	0	0	T	206628236	C	T	206628236	2	4	432	1	0	0	0	0	0	0	0	1	15236	871	31	1		1	SRGAP2	1	206628236	Silent	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	54347685	206628236	42622385	4	85334											
FMN2	56776	broad.mit.edu	37	chr1	240371580	240371580	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcataccccctccgcccccActtcccggagcgggcatacc	6	5	9	21	3	0	0	0	0	0	0	2	1	2	1	7	3	3	2	7	3	2	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:240371580A>C	ENST00000319653.9	+	5	3698	c.3468A>C	c.(3466-3468)ccA>ccC	p.P1156P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1156	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCGCCCCCACTTCCCGGAG	0.706													3	7					0	0	0	0	C	240371580	A	C	240371580	2	2	432	1	0	0	0	0	0	0	0	1	5995	146	6	5		5	FMN2	1	240371580	Silent	SNP	A	TCGA-IQ-7632-01A-11D-2078-08	33743344	240371580	8879041	5	85335											
SLC6A6	6533	broad.mit.edu	37	chr3	14526472	14526472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaccgtcatgaacggcgCtctcgtgaaaccgacccaca	10	6	9	16	6	2	2	1	2	1	0	4	3	2	2	3	1	2	2	3	1	2	0			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr3:14526472C>T	ENST00000454876.2	+	15	2149	c.1820C>T	c.(1819-1821)gCt>gTt	p.A607V	SLC6A6_ENST00000360861.3_Missense_Mutation_p.A607V			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	607					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ATGAACGGCGCTCTCGTGAAA	0.577													3	22					0	0	0	0	T	14526472	C	T	14526472	3	4	432	1	0	0	0	0	1	0	0	0	14776	797	28	4	1874	4	SLC6A6	3	14526472	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		14526472	183495958	6	85336											
GRM2	2912	broad.mit.edu	37	chr3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctttttgcactggaccGcatcaaccgtgacccgcacc	8	9	8	16	3	1	1	1	1	0	0	1	2	1	2	4	1	3	4	4	1	1	2	rs144180122	by1000genomes	TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr3:51743211G>A	ENST00000395052.3	+	2	446	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GRM2_ENST00000442933.2_Missense_Mutation_p.R71H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	71					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCACTGGACCGCATCAACCGT	0.632													8	89					0	0	0	0	A	51743211	G	A	51743211	3	1	432	1	0	0	0	0	1	0	0	0	6847	1087	38	1	214	1	GRM2	3	51743211	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	37216739	51743211	146279219	7	85337											
SLC4A4	8671	broad.mit.edu	37	chr4	72412192	72412192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcacatcgacagtttgaaGatggagacagagacttctgc	12	9	11	9	1	2	4	1	1	1	3	3	7	2	4	0	1	1	2	0	1	1	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr4:72412192G>A	ENST00000340595.3	+	16	2632	c.2436G>A	c.(2434-2436)aaG>aaA	p.K812K	SLC4A4_ENST00000425175.1_Silent_p.K856K|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Silent_p.K856K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	856						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACAGTTTGAAGATGGAGACAG	0.483													6	46					0	0	0	0	A	72412192	G	A	72412192	2	1	432	1	0	0	0	0	0	0	0	1	14744	933	33	2		2	SLC4A4	4	72412192	Silent	SNP	G	TCGA-IQ-7632-01A-11D-2078-08		72412192	118742084	8	85338											
LRBA	987	broad.mit.edu	37	chr4	151509256	151509256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccacctcaaaatagagttCggaggaggtgacagaaagag	16	6	12	7	1	1	4	1	1	0	3	3	6	2	6	2	3	0	1	2	3	4	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr4:151509256C>T	ENST00000535741.1	-	40	6747	c.6274G>A	c.(6274-6276)Gaa>Aaa	p.E2092K	LRBA_ENST00000507224.1_Missense_Mutation_p.E2092K|LRBA_ENST00000357115.3_Missense_Mutation_p.E2103K|LRBA_ENST00000510413.1_Missense_Mutation_p.E2092K			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2103						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAATAGAGTTCGGAGGAGGTG	0.463													10	91					0	0	0	0	T	151509256	C	T	151509256	3	4	432	1	0	0	0	0	1	0	0	0	8995	893	31	1	2356	1	LRBA	4	151509256	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	79097064	151509256	39645020	9	85339											
SLC38A9	153129	broad.mit.edu	37	chr5	54922346	54922346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataaaaaactgaacaatcagGttagccacgcccaaaatgat	19	7	6	9	1	1	2	1	2	0	0	1	2	1	2	2	1	3	1	2	1	8	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:54922346G>T	ENST00000396865.2	-	16	2253	c.1662C>A	c.(1660-1662)aaC>aaA	p.N554K	SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Missense_Mutation_p.N491K|SLC38A9_ENST00000416547.2_Missense_Mutation_p.N430K|SLC38A9_ENST00000515629.1_Missense_Mutation_p.N491K|SLC38A9_ENST00000318672.3_Missense_Mutation_p.N554K	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	554					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAACAATCAGGTTAGCCACGC	0.368													12	86					0.000978159	0.00135638	1	0	T	54922346	G	T	54922346	3	4	432	1	0	0	0	0	1	0	0	0	14699	1252	44	4	27	4	SLC38A9	5	54922346	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08		54922346	125992914	10	85340											
DDX4	54514	broad.mit.edu	37	chr5	55110956	55110956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttttttgatcttgaatCggataaccatttagcacagc	10	16	6	9	1	1	2	0	2	1	0	3	3	2	3	2	1	3	1	2	1	3	8			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:55110956C>T	ENST00000505374.1	+	20	2035	c.1943C>T	c.(1942-1944)tCg>tTg	p.S648L	DDX4_ENST00000354991.5_Missense_Mutation_p.S614L|DDX4_ENST00000514278.2_Missense_Mutation_p.S628L|DDX4_ENST00000511853.1_Missense_Mutation_p.S499L|DDX4_ENST00000353507.5_Missense_Mutation_p.S614L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	648	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GATCTTGAATCGGATAACCAT	0.358													6	104					0	0	0	0	T	55110956	C	T	55110956	3	4	432	1	0	0	0	0	1	0	0	0	4392	893	31	1	2058	1	DDX4	5	55110956	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	188610	55110956	125804304	11	85341											
HTR1A	3350	broad.mit.edu	37	chr5	63256816	63256816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgcggggcgggagatGctccatggcgggtgtccgct	3	8	20	10	4	0	1	0	0	0	1	2	2	2	1	2	6	2	3	2	6	0	0			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:63256816G>A	ENST00000323865.3	-	1	964	c.731C>T	c.(730-732)gCa>gTa	p.A244V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	244				A -> AA (in Ref. 8).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGCGGGAGATGCTCCATGGCG	0.632													8	56					0	0	0	0	A	63256816	G	A	63256816	3	1	432	1	0	0	0	0	1	0	0	0	7489	1319	46	4	540	4	HTR1A	5	63256816	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	8145860	63256816	117658444	12	85342											
PCSK1	5122	broad.mit.edu	37	chr5	95746485	95746485	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcaacatacgattctcTggtcggtgtaatctccgctg	11	11	9	10	3	2	0	0	0	2	0	5	1	2	0	1	2	3	3	1	2	5	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:95746485T>A	ENST00000311106.3	-	8	1325	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.Q316L	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	363	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACGATTCTCTGGTCGGTGTA	0.512													10	80					0	0	0	0	A	95746485	T	A	95746485	3	1	432	1	0	0	0	0	1	0	0	0	11671	1580	55	5	1201	5	PCSK1	5	95746485	Missense_Mutation	SNP	T	TCGA-IQ-7632-01A-11D-2078-08	32489669	95746485	85168775	13	85343											
KDM3B	51780	broad.mit.edu	37	chr5	137727180	137727180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccccagagaatcatgaaaAtctatttttacagcccccca	14	10	4	13	0	2	2	1	1	1	1	2	3	2	2	5	0	3	0	5	0	6	5			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:137727180A>G	ENST00000314358.5	+	8	2059	c.1859A>G	c.(1858-1860)aAt>aGt	p.N620S	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.N276S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	620					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AATCATGAAAATCTATTTTTA	0.507													13	104					0	0	0	0	G	137727180	A	G	137727180	3	3	432	1	0	0	0	0	1	0	0	0	8180	101	4	5	1889	5	KDM3B	5	137727180	Missense_Mutation	SNP	A	TCGA-IQ-7632-01A-11D-2078-08	41980695	137727180	43188080	14	85344											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751490	140751490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtgtccgtgagcgcgcGgagcggggtggtgttcgcgc	3	8	19	11	8	0	1	0	1	0	0	2	2	1	2	1	4	3	1	1	4	1	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:140751490G>A	ENST00000576222.1	+	1	1660	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGGAGCGGGGTG	0.667													10	50					0	0	0	0	A	140751490	G	A	140751490	3	1	432	1	0	0	0	0	1	0	0	0	11635	1116	39	1	1531	1	PCDHGB3	5	140751490	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	3024310	140751490	40163770	15	85345											
FAM193B	54540	broad.mit.edu	37	chr5	176951739	176951739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtctcctcacgagcccGttctcggggacgataccggg	6	9	13	13	5	3	1	1	1	2	0	5	4	3	2	3	3	2	1	3	3	1	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:176951739G>A	ENST00000329540.5	-	9	3450	c.621C>T	c.(619-621)aaC>aaT	p.N207N	FAM193B_ENST00000514747.1_Silent_p.N581N|FAM193B_ENST00000443375.2_Silent_p.N548N			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	257										kidney(1)|large_intestine(3)	4						TCACGAGCCCGTTCTCGGGGA	0.652													4	8					0	0	0	0	A	176951739	G	A	176951739	2	1	432	1	0	0	0	0	0	0	0	1	5568	1136	40	1		1	FAM193B	5	176951739	Silent	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	36200249	176951739	3963521	16	85346											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27783137	27783137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcgcctactgctacccgggGaattggccaagcacgccgtg	7	7	13	14	4	0	0	0	0	0	0	0	1	0	1	4	3	5	2	4	3	4	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:27783137G>A	ENST00000359465.4	+	1	316	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	106					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GCTACCCGGGGAATTGGCCAA	0.622													7	60					0	0	0	0	A	27783137	G	A	27783137	3	1	432	1	0	0	0	0	1	0	0	0	7202	1175	41	2	318	2	HIST1H2BM	6	27783137	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08		27783137	143331930	17	85347											
TRIM27	5987	broad.mit.edu	37	chr6	28871857	28871857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcacctcctcaaggggagGtctccatggaatgaccatga	11	9	10	11	0	3	2	2	2	1	0	5	4	4	4	4	4	0	0	4	4	2	1			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:28871857G>C	ENST00000377199.3	-	8	1888	c.1532C>G	c.(1531-1533)aCc>aGc	p.T511S	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	511					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCAAGGGGAGGTCTCCATGGA	0.537			T	RET	papillary thyroid								9	60					0	0	0	0	C	28871857	G	C	28871857	3	2	432	1	0	0	0	0	1	0	0	0	16596	1261	44	4	13	4	TRIM27	6	28871857	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	1088720	28871857	142243210	18	85348											
VARS2	57176	broad.mit.edu	37	chr6	30888896	30888896	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaccagaagaactggCagcactggttttcccatatt	10	11	7	13	0	0	2	0	0	0	2	2	2	2	2	4	2	2	3	4	2	3	5			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:30888896C>T	ENST00000321897.5	+	15	2166	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Nonsense_Mutation_p.Q372*|VARS2_ENST00000416670.2_Nonsense_Mutation_p.Q512*|VARS2_ENST00000541562.1_Nonsense_Mutation_p.Q542*			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	512					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GAAGAACTGGCAGCACTGGTT	0.557													6	45					0	0	0	0	T	30888896	C	T	30888896	4	4	432	1	0	0	0	0	0	1	0	0	17220	711	25	4	1686	4	VARS2	6	30888896	Nonsense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	2017039	30888896	140226171	19	85349											
SLC44A4	80736	broad.mit.edu	37	chr6	31832499	31832499	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctggcgatgacataggcCcccaggatggaggtctggaa	9	6	15	11	2	1	1	0	1	1	0	1	5	1	4	3	6	0	1	3	6	2	1			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:31832499C>A	ENST00000544672.1	-	20	2009	c.1713G>T	c.(1711-1713)ggG>ggT	p.G571G	SLC44A4_ENST00000375562.4_Silent_p.G605G|SLC44A4_ENST00000229729.6_Silent_p.G647G	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	647						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TGACATAGGCCCCCAGGATGG	0.597													7	79					8.12818e-05	0.000117407	1	0	A	31832499	C	A	31832499	2	1	432	1	0	0	0	0	0	0	0	1	14726	610	22	4		4	SLC44A4	6	31832499	Silent	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	943603	31832499	139282568	20	85350											
DNAH8	1769	broad.mit.edu	37	chr6	38816439	38816440	+	Frame_Shift_Ins	INS	-	-	A																															ttagatacaatgctccatttINSaaaaaaaatatccagaattg																										TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:38816439_38816440insA	ENST00000359357.3	+	35	4664_4665	c.4410_4411insA	c.(4408-4413)ttaaaafs	p.LK1470fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.LK1687fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.LK1470fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCTCCATTTAAAAAAAATAT	0.342													7	31	---	---	---	---					A	38816440	-	A	38816439	7	5	432	1	0	1	1	0	0	0	0	0	4643	1751	61	0	4540	0	DNAH8	6	38816439	Frame_Shift_Ins	INS	-	TCGA-IQ-7632-01A-11D-2078-08	6983940	38816439	132298628	21	85351											
DNAH8	1769	broad.mit.edu	37	chr6	38840791	38840791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttagctaatggagatcgCattcccatggcccctagttg	9	11	10	11	2	0	1	0	0	0	1	2	2	1	1	3	2	1	4	3	2	3	5			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:38840791C>T	ENST00000359357.3	+	49	6950	c.6696C>T	c.(6694-6696)cgC>cgT	p.R2232R	DNAH8_ENST00000449981.2_Silent_p.R2449R|DNAH8_ENST00000441566.1_Silent_p.R2196R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGGAGATCGCATTCCCATGG	0.443													12	82					0	0	0	0	T	38840791	C	T	38840791	2	4	432	1	0	0	0	0	0	0	0	1	4643	697	25	4		4	DNAH8	6	38840791	Silent	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	24352	38840791	132274276	22	85352											
HEY2	23493	broad.mit.edu	37	chr6	126080842	126080842	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggccgcggccacagccaTcagcccgcccttgtcagtat	7	7	11	16	3	2	0	2	0	0	0	2	0	2	0	5	2	2	1	5	2	1	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:126080842T>G	ENST00000368364.3	+	5	1105	c.908T>G	c.(907-909)aTc>aGc	p.I303S	HEY2_ENST00000368365.1_Missense_Mutation_p.I257S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	303					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCCACAGCCATCAGCCCGCCC	0.622													10	106					0	0	0	0	G	126080842	T	G	126080842	3	3	432	1	0	0	0	0	1	0	0	0	7129	1435	50	5	926	5	HEY2	6	126080842	Missense_Mutation	SNP	T	TCGA-IQ-7632-01A-11D-2078-08	87240051	126080842	45034225	23	85353											
AKAP9	10142	broad.mit.edu	37	chr7	91570433	91570435	+	In_Frame_Del	DEL	AGA	AGA	-																															catggaggacgaggagagacAgaagaagctggaggccggca																										TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr7:91570433_91570435delAGA	ENST00000359028.2	+	1	245_247	c.20_22delAGA	c.(19-24)cag>c	p.QK7del	AKAP9_ENST00000356239.3_In_Frame_Del_p.QK7del|AKAP9_ENST00000358100.2_In_Frame_Del_p.QK7del|AKAP9_ENST00000394564.1_In_Frame_Del_p.QK7del			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	7					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGGAGAGACAGAAGAAGCTGGA	0.635			T	BRAF	papillary thyroid								12	108	---	---	---	---					-	91570435	AGA	-	91570433	7	5	432	1	0	1	0	1	0	0	0	0	459	188	7	0	22	0	AKAP9	7	91570433	In_Frame_Del	DEL	AGA	TCGA-IQ-7632-01A-11D-2078-08		91570433	67568230	24	85354											
TAF6	6878	broad.mit.edu	37	chr7	99707619	99707619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatccggtcaatgttgctCagcacagggccgtccagcac	9	7	10	15	2	2	0	2	0	0	0	4	0	4	0	4	2	3	4	4	2	2	1			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr7:99707619C>T	ENST00000344095.4	-	12	1761	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	TAF6_ENST00000472509.1_Silent_p.L469L|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Silent_p.L336L|TAF6_ENST00000453269.2_Silent_p.L412L|TAF6_ENST00000452041.1_Silent_p.L412L|TAF6_ENST00000437822.2_Silent_p.L449L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	412					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATGTTGCTCAGCACAGGGC	0.582													8	73					0	0	0	0	T	99707619	C	T	99707619	2	4	432	1	0	0	0	0	0	0	0	1	15621	813	29	2		2	TAF6	7	99707619	Silent	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	8137186	99707619	59431044	25	85355											
FAM49B	51571	broad.mit.edu	37	chr8	130874554	130874554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccatgccttctcttgcaaCttctcatctgctggatgctg	5	14	7	15	0	3	0	1	0	3	0	5	1	3	1	3	1	5	3	3	1	1	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr8:130874554C>G	ENST00000519824.2	-	5	495	c.222G>C	c.(220-222)aaG>aaC	p.K74N	FAM49B_ENST00000519540.1_Missense_Mutation_p.K74N|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.K74N|FAM49B_ENST00000519110.1_Missense_Mutation_p.K74N|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000401979.2_Missense_Mutation_p.K74N|FAM49B_ENST00000517654.1_Missense_Mutation_p.K74N|FAM49B_ENST00000523509.1_Missense_Mutation_p.K74N|FAM49B_ENST00000522941.1_Intron	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	74										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TCTCTTGCAACTTCTCATCTG	0.328													8	87					0	0	0	0	G	130874554	C	G	130874554	3	3	432	1	0	0	0	0	1	0	0	0	5623	564	20	4	784	4	FAM49B	8	130874554	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		130874554	15489468	26	85356											
PAX5	5079	broad.mit.edu	37	chr9	37015073	37015073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtccctgatctcccaggCaaacatggtgggattttggc	7	10	12	12	1	1	1	0	1	1	0	3	2	2	2	3	5	1	1	3	5	1	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr9:37015073C>A	ENST00000358127.4	-	3	405	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	PAX5_ENST00000377852.2_Missense_Mutation_p.A111S|PAX5_ENST00000377853.2_Missense_Mutation_p.A111S|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.A111S|PAX5_ENST00000377847.2_Missense_Mutation_p.A111S|PAX5_ENST00000522003.1_Missense_Mutation_p.A3S|PAX5_ENST00000520281.1_Missense_Mutation_p.A111S|PAX5_ENST00000523145.1_Missense_Mutation_p.A3S|PAX5_ENST00000520154.1_Missense_Mutation_p.A111S|PAX5_ENST00000414447.1_Missense_Mutation_p.A111S	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	111	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ATCTCCCAGGCAAACATGGTG	0.547			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								8	179					0.00448238	0.00613378	1	0	A	37015073	C	A	37015073	3	1	432	1	0	0	0	0	1	0	0	0	11553	710	25	4	876	4	PAX5	9	37015073	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		37015073	104198358	27	85357											
C10orf107	219621	broad.mit.edu	37	chr10	63450358	63450358	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttctactctgccagggaAgaaattgtgataggaactga	13	11	11	6	0	2	3	0	2	2	1	2	5	2	5	1	2	3	1	1	2	5	4			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr10:63450358A>G	ENST00000330194.2	+	4	572	c.267A>G	c.(265-267)gaA>gaG	p.E89E		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	89										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CTGCCAGGGAAGAAATTGTGA	0.343													7	46					0	0	0	0	G	63450358	A	G	63450358	2	3	432	1	0	0	0	0	0	0	0	1	1591	69	3	5		5	C10orf107	10	63450358	Silent	SNP	A	TCGA-IQ-7632-01A-11D-2078-08		63450358	72084389	28	85358											
SYT9	143425	broad.mit.edu	37	chr11	7439283	7439283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgaatcctgtttacaacGaagccatagtctttgatgtc	10	14	7	10	1	1	2	0	2	1	0	3	3	2	2	3	0	3	1	3	0	5	5			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr11:7439283G>A	ENST00000318881.6	+	5	1498	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	421	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.E421K(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGTTTACAACGAAGCCATAGT	0.468													6	61					0	0	0	0	A	7439283	G	A	7439283	3	1	432	1	0	0	0	0	1	0	0	0	15572	1059	37	1	1279	1	SYT9	11	7439283	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08		7439283	127567233	29	85359											
OR4C16	219428	broad.mit.edu	37	chr11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttgttatttttttgcGtctctacttgggaacactgt	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	3	7			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													7	89					0	0	0	0	A	55339695	G	A	55339695	3	1	432	1	0	0	0	0	1	0	0	0	11120	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	47900412	55339695	79666821	30	85360											
WDR74	54663	broad.mit.edu	37	chr11	62606655	62606655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctctgaccctggaatatgCcatcctcggtgctgaagtgc	7	11	11	12	1	1	2	0	2	1	0	4	3	2	3	3	2	3	1	3	2	3	1			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr11:62606655C>T	ENST00000525239.1	-	4	761	c.224G>A	c.(223-225)gGc>gAc	p.G75D	WDR74_ENST00000278856.4_Missense_Mutation_p.G75D|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000525752.1_Missense_Mutation_p.G18D|WDR74_ENST00000529106.1_Missense_Mutation_p.G75D|WDR74_ENST00000311713.7_Missense_Mutation_p.G75D			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	75						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						CTGGAATATGCCATCCTCGGT	0.652													4	46					0	0	0	0	T	62606655	C	T	62606655	3	4	432	1	0	0	0	0	1	0	0	0	17420	739	26	4	969	4	WDR74	11	62606655	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	7266960	62606655	72399861	31	85361											
SESN3	143686	broad.mit.edu	37	chr11	94911920	94911920	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctcgtctggcaaagTcttcatacccaaaaccaggg	10	10	7	14	1	4	0	1	0	3	0	6	0	4	0	3	2	2	1	3	2	4	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr11:94911920T>G	ENST00000536441.1	-	7	1346	c.1010A>C	c.(1009-1011)gAc>gCc	p.D337A	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.D198A|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	337					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCTGGCAAAGTCTTCATACCC	0.363													7	46					0	0	0	0	G	94911920	T	G	94911920	3	3	432	1	0	0	0	0	1	0	0	0	14213	1667	58	5	484	5	SESN3	11	94911920	Missense_Mutation	SNP	T	TCGA-IQ-7632-01A-11D-2078-08	32305265	94911920	40094596	32	85362											
ST8SIA1	6489	broad.mit.edu	37	chr12	22408274	22408274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcttcttcagaatcccaCcatttcccaccaccgcgcat	9	10	3	19	2	3	1	1	0	2	1	5	1	5	1	5	0	0	1	5	0	1	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr12:22408274C>T	ENST00000396037.4	-	3	912	c.431G>A	c.(430-432)gGt>gAt	p.G144D	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	144					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CAGAATCCCACCATTTCCCAC	0.517													10	100					0	0	0	0	T	22408274	C	T	22408274	3	4	432	1	0	0	0	0	1	0	0	0	15321	507	18	4	651	4	ST8SIA1	12	22408274	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		22408274	111443621	33	85363											
KIF5A	3798	broad.mit.edu	37	chr12	57958726	57958726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaatctgtccgtgcaCgaggacaagaaccgggtgcc	13	5	12	11	3	1	2	0	0	1	2	2	4	2	3	3	2	3	1	3	2	4	0	rs143178113		TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr12:57958726C>T	ENST00000455537.2	+	6	745	c.471C>T	c.(469-471)caC>caT	p.H157H	KIF5A_ENST00000286452.5_Silent_p.H68H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	157	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.H157H(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGTCCGTGCACGAGGACAAGA	0.532													6	33					0	0	0	0	T	57958726	C	T	57958726	2	4	432	1	0	0	0	0	0	0	0	1	8356	535	19	1		1	KIF5A	12	57958726	Silent	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	35550452	57958726	75893169	34	85364											
THAP2	83591	broad.mit.edu	37	chr12	72070612	72070612	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctatggaggcaaaaaagagGatcattaaactggaaaaaga	20	6	10	5	0	1	2	1	0	0	2	1	5	1	5	1	4	1	1	1	4	8	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr12:72070612G>A	ENST00000308086.2	+	3	1912	c.411G>A	c.(409-411)agG>agA	p.R137R	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	137						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CAAAAAAGAGGATCATTAAAC	0.383													6	65					0	0	0	0	A	72070612	G	A	72070612	2	1	432	1	0	0	0	0	0	0	0	1	15938	1165	41	2		2	THAP2	12	72070612	Silent	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	14111886	72070612	61781283	35	85365											
SACS	26278	broad.mit.edu	37	chr13	23914846	23914846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctttagtacttctatatCagggtcaaagagttcaccag	12	13	7	9	0	4	1	3	0	1	1	5	1	5	1	2	1	1	2	2	1	5	7			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr13:23914846C>G	ENST00000382298.3	-	10	3757	c.3169G>C	c.(3169-3171)Gat>Cat	p.D1057H	SACS_ENST00000402364.1_Missense_Mutation_p.D307H|SACS_ENST00000382292.3_Missense_Mutation_p.D1057H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1057					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTTCTATATCAGGGTCAAAG	0.373													5	115					0	0	0	0	G	23914846	C	G	23914846	3	3	432	1	0	0	0	0	1	0	0	0	13889	826	29	2	10574	2	SACS	13	23914846	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		23914846	91255032	36	85366											
SMOC1	64093	broad.mit.edu	37	chr14	70444647	70444647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaggttcagtcaccgAcaagcccttgagccagggta	11	6	10	14	1	2	1	2	1	0	0	2	2	2	1	4	2	2	2	4	2	3	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr14:70444647A>G	ENST00000381280.4	+	5	744	c.491A>G	c.(490-492)gAc>gGc	p.D164G	SMOC1_ENST00000361956.3_Missense_Mutation_p.D164G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	164					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCAGTCACCGACAAGCCCTTG	0.433													6	56					0	0	0	0	G	70444647	A	G	70444647	3	3	432	1	0	0	0	0	1	0	0	0	14889	275	10	5	509	5	SMOC1	14	70444647	Missense_Mutation	SNP	A	TCGA-IQ-7632-01A-11D-2078-08		70444647	36904893	37	85367											
EFTUD1	79631	broad.mit.edu	37	chr15	82444535	82444535	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctggaaggggcatggctcGaacactgagcgtggcaagtt	9	9	15	8	2	1	1	0	1	1	0	2	3	1	2	0	5	2	4	0	5	3	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr15:82444535G>A	ENST00000268206.7	-	18	2428	c.2260C>T	c.(2260-2262)Cga>Tga	p.R754*	EFTUD1_ENST00000359445.3_Nonsense_Mutation_p.R703*	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	754					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGCATGGCTCGAACACTGAGC	0.438													7	75					0	0	0	0	A	82444535	G	A	82444535	4	1	432	1	0	0	0	0	0	1	0	0	4996	1066	37	1	1114	1	EFTUD1	15	82444535	Nonsense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08		82444535	20086857	38	85368											
SLC28A1	9154	broad.mit.edu	37	chr15	85447424	85447424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccttcgcaggaatctgCgtgttcgtcgctctcctctt	3	15	10	13	4	3	0	0	0	3	0	8	1	4	1	2	1	1	3	2	1	1	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr15:85447424C>T	ENST00000394573.1	+	7	760	c.558C>T	c.(556-558)tgC>tgT	p.C186C	SLC28A1_ENST00000286749.3_Silent_p.C186C|SLC28A1_ENST00000538177.1_Silent_p.C186C|SLC28A1_ENST00000537624.1_Silent_p.C186C|SLC28A1_ENST00000537216.1_Silent_p.C186C|SLC28A1_ENST00000537703.1_Silent_p.C108C	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	186					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGAATCTGCGTGTTCGTCG	0.597													5	87					0	0	0	0	T	85447424	C	T	85447424	2	4	432	1	0	0	0	0	0	0	0	1	14619	776	27	1		1	SLC28A1	15	85447424	Silent	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	3002889	85447424	17083968	39	85369											
BAIAP3	8938	broad.mit.edu	37	chr16	1397985	1397985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccaggtgaagacccggaCgctgcaccctgtatacgacg	10	5	12	14	4	0	2	0	1	0	1	0	5	0	3	3	2	2	3	3	2	3	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr16:1397985C>T	ENST00000324385.5	+	32	3379	c.3221C>T	c.(3220-3222)aCg>aTg	p.T1074M	BAIAP3_ENST00000397488.2_Missense_Mutation_p.T1056M|BAIAP3_ENST00000568887.1_Missense_Mutation_p.T1011M|BAIAP3_ENST00000421665.2_Missense_Mutation_p.T1003M|BAIAP3_ENST00000562208.1_Missense_Mutation_p.T1016M|BAIAP3_ENST00000426824.3_Missense_Mutation_p.T1039M|BAIAP3_ENST00000397489.1_Missense_Mutation_p.T1056M	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1074	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AAGACCCGGACGCTGCACCCT	0.632													11	74					0	0	0	0	T	1397985	C	T	1397985	3	4	432	1	0	0	0	0	1	0	0	0	1308	536	19	1	3347	1	BAIAP3	16	1397985	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		1397985	88956768	40	85370											
PLK1	5347	broad.mit.edu	37	chr16	23695252	23695252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacagatcccactgcccGcccaaccattaacgagctgc	11	6	7	17	2	1	2	1	0	0	2	2	3	2	2	4	0	5	1	4	0	2	1			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr16:23695252G>A	ENST00000300093.4	+	5	989	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	293	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCCACTGCCCGCCCAACCATT	0.547													12	250					0	0	0	0	A	23695252	G	A	23695252	3	1	432	1	0	0	0	0	1	0	0	0	12166	1087	38	1	896	1	PLK1	16	23695252	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	22297267	23695252	66659501	41	85371											
CNOT1	23019	broad.mit.edu	37	chr16	58583721	58583721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggctatgaaagtttggctCaatactgactctcttcataa	12	13	7	9	0	3	2	2	2	1	0	4	2	3	2	0	2	1	3	0	2	5	5			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr16:58583721C>G	ENST00000317147.5	-	25	3756	c.3424G>C	c.(3424-3426)Gag>Cag	p.E1142Q	CNOT1_ENST00000569240.1_Missense_Mutation_p.E1137Q|CNOT1_ENST00000245138.4_Missense_Mutation_p.E32Q|CNOT1_ENST00000441024.2_Missense_Mutation_p.E1142Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1142					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGTTTGGCTCAATACTGACT	0.393													6	87					0	0	0	0	G	58583721	C	G	58583721	3	3	432	1	0	0	0	0	1	0	0	0	3647	835	29	2	4028	2	CNOT1	16	58583721	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	34888469	58583721	31771032	42	85372											
ZDHHC1	29800	broad.mit.edu	37	chr16	67434946	67434946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggcaggggccccgcataGctcttgtcccgcacgttggc	5	8	14	14	3	1	0	0	0	1	0	2	0	2	0	3	4	1	5	3	4	1	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr16:67434946G>C	ENST00000348579.2	-	4	683	c.342C>G	c.(340-342)agC>agG	p.S114R		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	114						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GCCCCGCATAGCTCTTGTCCC	0.597													3	59					0	0	0	0	C	67434946	G	C	67434946	3	2	432	1	0	0	0	0	1	0	0	0	17695	962	34	4	1147	4	ZDHHC1	16	67434946	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	8851225	67434946	22919807	43	85373											
ZFHX3	463	broad.mit.edu	37	chr16	72828433	72828433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggctttgaagagcgctctGcaaaaagggcatctcctgtg	9	11	12	9	1	2	2	0	1	2	1	3	2	2	2	1	2	2	4	1	2	3	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr16:72828433G>A	ENST00000268489.5	-	9	8820	c.8148C>T	c.(8146-8148)tgC>tgT	p.C2716C	ZFHX3_ENST00000397992.5_Silent_p.C1802C	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2716					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.C2716>?(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGAGCGCTCTGCAAAAAGGGC	0.562													17	65					0	0	0	0	A	72828433	G	A	72828433	2	1	432	1	0	0	0	0	0	0	0	1	17729	1311	46	4		4	ZFHX3	16	72828433	Silent	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	5393487	72828433	17526320	44	85374											
ABCC3	8714	broad.mit.edu	37	chr17	48761081	48761082	+	Frame_Shift_Del	DEL	GA	GA	-																															ccgggcctagacctggtgctGagagacctgagtctgcatgt																										TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr17:48761081_48761082delGA	ENST00000285238.8	+	27	3998_3999	c.3918_3919delGA	c.(3916-3921)ctgafs	p.LR1306fs		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1306	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACCTGGTGCTGAGAGACCTGAG	0.644													15	77	---	---	---	---					-	48761082	GA	-	48761081	7	5	432	1	0	1	0	1	0	0	0	0	54	1277	45	0	4108	0	ABCC3	17	48761081	Frame_Shift_Del	DEL	GA	TCGA-IQ-7632-01A-11D-2078-08		48761081	32434129	45	85375											
TCEB3B	51224	broad.mit.edu	37	chr18	44559510	44559510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaggcaggggttggccCgcttctcagggagccagcga	6	7	16	12	2	2	0	2	0	1	0	3	2	2	1	2	5	3	4	2	5	0	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr18:44559510C>T	ENST00000332567.4	-	1	2478	c.2126G>A	c.(2125-2127)cGg>cAg	p.R709Q	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	709					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGTTGGCCCGCTTCTCAGG	0.672													5	62					0	0	0	0	T	44559510	C	T	44559510	3	4	432	1	0	0	0	0	1	0	0	0	15776	652	23	1	139	1	TCEB3B	18	44559510	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		44559510	33517738	46	85376											
LPHN1	22859	broad.mit.edu	37	chr19	14268749	14268749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtggctgcaggcacacGtggtatgggtcttgttggac	6	11	17	7	1	1	1	0	1	1	0	1	2	1	2	0	6	1	5	0	6	1	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr19:14268749G>A	ENST00000340736.6	-	14	2792	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.T827M	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	832	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAGGCACACGTGGTATGGGT	0.597													5	61					0	0	0	0	A	14268749	G	A	14268749	3	1	432	1	0	0	0	0	1	0	0	0	8979	1145	40	1	1973	1	LPHN1	19	14268749	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08		14268749	44860234	47	85377											
ZNF540	163255	broad.mit.edu	37	chr19	38102814	38102814	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagaaaattcatactggTgaaaaatcctgtaaatgtga	17	11	7	6	0	2	3	2	2	0	1	3	3	3	3	1	1	1	1	1	1	7	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr19:38102814T>C	ENST00000592533.1	+	5	965	c.633T>C	c.(631-633)ggT>ggC	p.G211G	ZNF540_ENST00000343599.5_Silent_p.G211G|ZNF540_ENST00000316433.4_Silent_p.G211G|ZNF540_ENST00000589117.1_Silent_p.G179G	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCATACTGGTGAAAAATCCT	0.338													3	50					0	0	0	0	C	38102814	T	C	38102814	2	2	432	1	0	0	0	0	0	0	0	1	18070	1683	59	5		5	ZNF540	19	38102814	Silent	SNP	T	TCGA-IQ-7632-01A-11D-2078-08	23834065	38102814	21026169	48	85378											
KIF3B	9371	broad.mit.edu	37	chr20	30897727	30897727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaaccccaaagggacGgcccatgaaatgcccaagac	15	3	11	12	1	0	4	0	2	0	2	0	5	0	5	4	2	2	0	4	2	5	0			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr20:30897727G>A	ENST00000375712.3	+	2	314	c.147G>A	c.(145-147)acG>acA	p.T49T		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	49	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAAAGGGACGGCCCATGAAA	0.512													5	52					0	0	0	0	A	30897727	G	A	30897727	2	1	432	1	0	0	0	0	0	0	0	1	8352	1103	39	1		1	KIF3B	20	30897727	Silent	SNP	G	TCGA-IQ-7632-01A-11D-2078-08		30897727	32127793	49	85379											
TOMM34	10953	broad.mit.edu	37	chr20	43585027	43585027	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattacccttggccacttacGaagtgcaatctttgatgcag	11	12	8	10	1	1	1	0	1	1	0	1	2	1	1	2	1	4	2	2	1	5	4			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr20:43585027G>A	ENST00000372813.3	-	2	379	c.227_splice	c.e2+1	p.S76_splice	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	76					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GGCCACTTACGAAGTGCAATC	0.468													14	203					0	0	0	0	A	43585027	G	A	43585027	5	1	432	1	0	0	0	0	0	0	1	0	16451	1072	37	1	726	1	TOMM34	20	43585027	Splice_Site	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	12687300	43585027	19440493	50	85380											
SYCP2	10388	broad.mit.edu	37	chr20	58471566	58471566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgcttcagacatttttctTttgctaggagtagttttctg	7	19	9	6	0	3	1	1	0	2	1	3	3	3	2	0	1	2	4	0	1	2	9			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr20:58471566T>A	ENST00000357552.3	-	19	1647	c.1422A>T	c.(1420-1422)aaA>aaT	p.K474N	SYCP2_ENST00000371001.2_Missense_Mutation_p.K474N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	474					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.K474N(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATTTTTCTTTTGCTAGGAG	0.318													7	38					0	0	0	0	A	58471566	T	A	58471566	3	1	432	1	0	0	0	0	1	0	0	0	15523	1838	64	5	3278	5	SYCP2	20	58471566	Missense_Mutation	SNP	T	TCGA-IQ-7632-01A-11D-2078-08	14886539	58471566	4553954	51	85381											
CCT8L2	150160	broad.mit.edu	37	chr22	17072504	17072504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctagcttgaatcaccaCgatgccatacttgtccgcca	11	9	7	14	2	1	2	1	1	0	1	2	3	2	2	5	0	3	1	5	0	3	4			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr22:17072504C>G	ENST00000359963.3	-	1	1196	c.937G>C	c.(937-939)Gtg>Ctg	p.V313L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	313					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.V313M(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAATCACCACGATGCCATAC	0.557													14	132					0	0	0	0	G	17072504	C	G	17072504	3	3	432	1	0	0	0	0	1	0	0	0	2990	536	19	3	740	3	CCT8L2	22	17072504	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		17072504	34232062	52	85382											
C22orf42	150297	broad.mit.edu	37	chr22	32548591	32548591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaccgccgtgtgcagaCgcctgcacatcttcagtggg	7	8	11	15	3	2	1	1	0	1	1	3	1	3	1	4	1	2	2	4	1	0	1			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr22:32548591C>T	ENST00000382097.3	-	3	402	c.330G>A	c.(328-330)gcG>gcA	p.A110A		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	110										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGTGTGCAGACGCCTGCACAT	0.493													6	46					0	0	0	0	T	32548591	C	T	32548591	2	4	432	1	0	0	0	0	0	0	0	1	2169	523	19	1		1	C22orf42	22	32548591	Silent	SNP	C	TCGA-IQ-7632-01A-11D-2078-08	15476087	32548591	18755975	53	85383											
SCML1	6322	broad.mit.edu	37	chrX	17768243	17768243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccgatcctcagccgcaCtccgagtccagtgcatccct	7	7	9	18	3	1	0	1	0	0	0	5	3	5	1	6	1	2	2	6	1	0	0			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:17768243C>G	ENST00000380043.3	+	5	780	c.452C>G	c.(451-453)aCt>aGt	p.T151S	SCML1_ENST00000380041.3_Missense_Mutation_p.T178S|SCML1_ENST00000380045.3_Missense_Mutation_p.T57S|SCML1_ENST00000398080.1_Missense_Mutation_p.T57S	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	178					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTCAGCCGCACTCCGAGTCCA	0.522													16	71					0	0	0	0	G	17768243	C	G	17768243	3	3	432	1	0	0	0	0	1	0	0	0	13996	565	20	4	554	4	SCML1	23	17768243	Missense_Mutation	SNP	C	TCGA-IQ-7632-01A-11D-2078-08		17768243	137502317	54	85384											
BRWD3	254065	broad.mit.edu	37	chrX	79932674	79932674	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccacaggtactttcagAacttaaactggatcctaact	15	10	6	10	0	1	2	1	0	0	2	2	3	2	3	2	2	5	1	2	2	6	4			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:79932674A>G	ENST00000373275.4	-	41	5059	c.4843T>C	c.(4843-4845)Tct>Cct	p.S1615P		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1615										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTACTTTCAGAACTTAAACTG	0.373													5	136					0	0	0	0	G	79932674	A	G	79932674	3	3	432	1	0	0	0	0	1	0	0	0	1534	246	9	5	569	5	BRWD3	23	79932674	Missense_Mutation	SNP	A	TCGA-IQ-7632-01A-11D-2078-08	62164431	79932674	75337886	55	85385											
PCDH11X	27328	broad.mit.edu	37	chrX	91132437	91132437	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagggtgacatgcttcAcagatcatgaaatccctttc	11	11	9	10	0	2	3	2	2	0	1	4	3	3	3	1	2	1	2	1	2	1	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:91132437A>G	ENST00000373094.1	+	2	2043	c.1198A>G	c.(1198-1200)Aca>Gca	p.T400A	PCDH11X_ENST00000298274.8_Missense_Mutation_p.T400A|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T400A|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T400A|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T400A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	400	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACATGCTTCACAGATCATGA	0.418													9	121					0	0	0	0	G	91132437	A	G	91132437	3	3	432	1	0	0	0	0	1	0	0	0	11579	159	6	5	1204	5	PCDH11X	23	91132437	Missense_Mutation	SNP	A	TCGA-IQ-7632-01A-11D-2078-08	11199763	91132437	64138123	56	85386											
GPR112	139378	broad.mit.edu	37	chrX	135405364	135405364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggcactttctcaagaaTgagagcagcgaggttaaaag	14	8	12	7	1	1	2	1	1	1	2	2	4	1	2	0	2	2	3	0	2	5	3			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:135405364T>A	ENST00000394143.1	+	5	789	c.498T>A	c.(496-498)aaT>aaA	p.N166K	GPR112_ENST00000287534.4_Missense_Mutation_p.N103K|GPR112_ENST00000370652.1_Missense_Mutation_p.N166K|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	166					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCTCAAGAATGAGAGCAGCG	0.448													7	129					0	0	0	0	A	135405364	T	A	135405364	3	1	432	1	0	0	0	0	1	0	0	0	6678	1461	51	5	504	5	GPR112	23	135405364	Missense_Mutation	SNP	T	TCGA-IQ-7632-01A-11D-2078-08	44272927	135405364	19865196	57	85387											
FLNA	2316	broad.mit.edu	37	chrX	153594747	153594747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccaggccgggaccttggGctgtcactttgctggcgtca	4	10	14	13	2	2	0	2	0	0	0	3	1	3	1	3	4	1	3	3	4	0	2			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:153594747G>A	ENST00000422373.1	-	8	1405	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	FLNA_ENST00000360319.4_Missense_Mutation_p.A386V|FLNA_ENST00000344736.4_Missense_Mutation_p.A386V|FLNA_ENST00000369850.3_Missense_Mutation_p.A386V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	386					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGACCTTGGGCTGTCACTTT	0.597													7	58					0	0	0	0	A	153594747	G	A	153594747	3	1	432	1	0	0	0	0	1	0	0	0	5978	1203	42	4	6950	4	FLNA	23	153594747	Missense_Mutation	SNP	G	TCGA-IQ-7632-01A-11D-2078-08	18189383	153594747	1675813	58	85388											
VPS13D	55187	broad.mit.edu	37	chr1	12328839	12328839	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccactttgagaggcggctCaatgtcagcacaaggccctt	10	8	11	12	1	2	1	2	1	0	1	2	2	2	1	2	3	2	2	2	3	2	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:12328839C>G	ENST00000358136.3	+	16	2008	c.1878C>G	c.(1876-1878)ctC>ctG	p.L626L	VPS13D_ENST00000356315.4_Silent_p.L626L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	626					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGGCGGCTCAATGTCAGCA	0.458													17	204					0	0	0	0	G	12328839	C	G	12328839	2	3	433	1	0	0	0	0	0	0	0	1	17288	813	29	2		2	VPS13D	1	12328839	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		12328839	236921782	1	85389											
VPS13D	55187	broad.mit.edu	37	chr1	12557583	12557583	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagggttcggaaaccgcGttgctgcacggggccccagg	8	5	16	12	4	0	1	0	0	0	1	1	2	0	2	3	5	3	4	3	5	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:12557583G>A	ENST00000471923.1	+	0	340				VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000358136.3_Missense_Mutation_p.R4231H|VPS13D_ENST00000356315.4_Missense_Mutation_p.R4206H|VPS13D_ENST00000543766.1_Missense_Mutation_p.R229H|VPS13D_ENST00000543710.1_Missense_Mutation_p.R35H			Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization			p.R4231L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGGAAACCGCGTTGCTGCACG	0.507													8	57					0	0	0	0	A	12557583	G	A	12557583	1	1	433	1	0	0	0	0	0	0	0	0	17288	1145	40	1		1	VPS13D	1	12557583	Translation_Start_Site	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	228744	12557583	236693038	2	85390											
EPHA2	1969	broad.mit.edu	37	chr1	16462170	16462170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttgcggtaagtgacctCgtacttccacactcggctct	6	13	8	14	3	2	1	0	1	2	0	5	1	3	1	2	2	2	3	2	2	2	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:16462170C>T	ENST00000358432.5	-	6	1562	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	470	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TAAGTGACCTCGTACTTCCAC	0.647													11	71					0	0	0	0	T	16462170	C	T	16462170	3	4	433	1	0	0	0	0	1	0	0	0	5205	893	31	1	1570	1	EPHA2	1	16462170	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	3904587	16462170	232788451	3	85391											
CNKSR1	10256	broad.mit.edu	37	chr1	26513909	26513909	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactacctggcagtgtgtttCagctcacccatgatgtgtac	8	12	9	12	0	2	1	2	1	0	0	2	1	2	1	2	1	3	4	2	1	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:26513909C>T	ENST00000531191.1	+	15	1623	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	CNKSR1_ENST00000374253.5_Nonsense_Mutation_p.Q471*|CNKSR1_ENST00000361530.6_Nonsense_Mutation_p.Q464*			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	471	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGTGTTTCAGCTCACCCA	0.582													29	113					0	0	0	0	T	26513909	C	T	26513909	4	4	433	1	0	0	0	0	0	1	0	0	3636	827	29	2	1452	2	CNKSR1	1	26513909	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	10051739	26513909	222736712	4	85392											
RLF	6018	broad.mit.edu	37	chr1	40703751	40703751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagttggcggctaagcCgtttttctgtgagcttcaag	7	13	12	9	2	2	1	1	1	1	0	2	1	2	1	1	2	3	5	1	2	2	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:40703751C>T	ENST00000372771.4	+	8	3404	c.3377C>T	c.(3376-3378)cCg>cTg	p.P1126L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1126					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCGGCTAAGCCGTTTTTCTGT	0.373													47	86					0	0	0	0	T	40703751	C	T	40703751	3	4	433	1	0	0	0	0	1	0	0	0	13474	652	23	1	3407	1	RLF	1	40703751	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	14189842	40703751	208546870	5	85393											
KLF17	128209	broad.mit.edu	37	chr1	44595173	44595173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttggtgtctgttgaggCgccggggcagaatgtgaatg	6	11	16	8	2	1	3	0	2	1	1	1	3	1	3	2	4	0	2	2	4	2	2	rs144146386		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:44595173C>T	ENST00000372299.3	+	2	288	c.230C>T	c.(229-231)gCg>gTg	p.A77V	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	77					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCTGTTGAGGCGCCGGGGCAG	0.587													25	64					0	0	0	0	T	44595173	C	T	44595173	3	4	433	1	0	0	0	0	1	0	0	0	8397	768	27	1	236	1	KLF17	1	44595173	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	3891422	44595173	204655448	6	85394											
OSBPL9	114883	broad.mit.edu	37	chr1	52248291	52248291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtgtaacatttgtggctGagcaggtttcccatcatcca	10	12	9	10	0	1	1	1	1	0	0	3	1	3	1	2	2	2	4	2	2	1	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:52248291G>C	ENST00000371710.3	+	17	1725	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	OSBPL9_ENST00000530544.1_Missense_Mutation_p.E416Q|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E480Q|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E502Q|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E507Q|OSBPL9_ENST00000486942.1_Missense_Mutation_p.E319Q|OSBPL9_ENST00000435686.2_Missense_Mutation_p.E332Q|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E497Q|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E387Q|OSBPL9_ENST00000462759.1_Missense_Mutation_p.E319Q|OSBPL9_ENST00000531828.1_Missense_Mutation_p.E332Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E484Q	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	497					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATTTGTGGCTGAGCAGGTTTC	0.413													8	44					0	0	0	0	C	52248291	G	C	52248291	3	2	433	1	0	0	0	0	1	0	0	0	11355	1291	45	2	1659	2	OSBPL9	1	52248291	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	7653118	52248291	197002330	7	85395											
MYSM1	114803	broad.mit.edu	37	chr1	59131245	59131245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatatggtaagggattatttCgattatagggactaacaatc	15	13	9	4	1	0	0	0	0	0	0	2	3	0	2	0	3	1	1	0	3	8	7			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:59131245C>T	ENST00000472487.1	-	17	2129	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	697					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GGGATTATTTCGATTATAGGG	0.333													7	65					0	0	0	0	T	59131245	C	T	59131245	3	4	433	1	0	0	0	0	1	0	0	0	10171	884	31	1	412	1	MYSM1	1	59131245	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	6882954	59131245	190119376	8	85396											
PGM1	5236	broad.mit.edu	37	chr1	64097370	64097370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttatgctacaatgctgaGaagcatctttgatttcagtg	11	14	9	7	0	2	2	1	2	1	1	2	3	2	2	0	0	5	4	0	0	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:64097370G>A	ENST00000371083.4	+	4	1021	c.653G>A	c.(652-654)aGa>aAa	p.R218K	PGM1_ENST00000540265.1_Missense_Mutation_p.R3K|PGM1_ENST00000371084.3_Missense_Mutation_p.R200K	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	200					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACAATGCTGAGAAGCATCTTT	0.373													26	103					0	0	0	0	A	64097370	G	A	64097370	3	1	433	1	0	0	0	0	1	0	0	0	11869	942	33	2	917	2	PGM1	1	64097370	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	4966125	64097370	185153251	9	85397											
WLS	79971	broad.mit.edu	37	chr1	68620827	68620827	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaattcccacattgattttCttcttctcattcacaggcag	9	15	4	13	0	4	1	2	1	3	0	6	1	5	1	2	1	0	1	2	1	1	7			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:68620827C>T	ENST00000262348.4	-	4	874	c.621G>A	c.(619-621)aaG>aaA	p.K207K	WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Silent_p.K205K|WLS_ENST00000370976.3_Silent_p.K116K|WLS_ENST00000540432.1_Silent_p.K207K|GNG12-AS1_ENST00000420587.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	207	Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CATTGATTTTCTTCTTCTCAT	0.423													36	123					0	0	0	0	T	68620827	C	T	68620827	2	4	433	1	0	0	0	0	0	0	0	1	17472	912	32	2		2	WLS	1	68620827	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	4523457	68620827	180629794	10	85398											
ABCA4	24	broad.mit.edu	37	chr1	94496668	94496668	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaaacacaaaggtagccggGagcacgatctgtgggagaat	16	5	13	7	2	1	1	0	0	1	1	1	4	1	2	1	3	3	2	1	3	5	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:94496668G>C	ENST00000370225.3	-	28	4223	c.4137C>G	c.(4135-4137)ctC>ctG	p.L1379L		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1379					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGTAGCCGGGAGCACGATCT	0.473													5	37					0	0	0	0	C	94496668	G	C	94496668	2	2	433	1	0	0	0	0	0	0	0	1	34	1161	41	2		2	ABCA4	1	94496668	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	25875841	94496668	154753953	11	85399											
LPPR4	9890	broad.mit.edu	37	chr1	99771685	99771685	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagagcctgagcctgggCagtcaccacccagatccata	11	8	9	13	0	1	3	1	1	0	2	2	3	2	3	5	1	2	1	5	1	3	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:99771685C>T	ENST00000370185.3	+	7	1908	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	LPPR4_ENST00000370184.1_Nonsense_Mutation_p.Q313*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.Q413*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		471							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGAGCCTGGGCAGTCACCACC	0.498													25	111					0	0	0	0	T	99771685	C	T	99771685	4	4	433	1	0	0	0	0	0	1	0	0	8991	711	25	4	1437	4	LPPR4	1	99771685	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	5275017	99771685	149478936	12	85400											
COL11A1	1301	broad.mit.edu	37	chr1	103461562	103461562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctttactccccgggggcCcgggtatccaataggacctt	7	10	10	14	2	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	5	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:103461562C>T	ENST00000358392.2	-	27	2631	c.2314G>A	c.(2314-2316)Ggc>Agc	p.G772S	COL11A1_ENST00000512756.1_Missense_Mutation_p.G644S|COL11A1_ENST00000370096.3_Missense_Mutation_p.G760S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G721S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	760	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCCGGGGGCCCGGGTATCCA	0.368													15	68					0	0	0	0	T	103461562	C	T	103461562	3	4	433	1	0	0	0	0	1	0	0	0	3697	623	22	4	3306	4	COL11A1	1	103461562	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	3689877	103461562	145789059	13	85401											
SLC6A17	388662	broad.mit.edu	37	chr1	110737359	110737359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatcaccacgcccatcatCgacaccttcaaggtgcccaa	11	6	7	17	2	3	0	3	0	0	0	4	1	3	0	4	2	1	1	4	2	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:110737359C>T	ENST00000331565.4	+	9	1943	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	486					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CGCCCATCATCGACACCTTCA	0.587													13	51					0	0	0	0	T	110737359	C	T	110737359	2	4	433	1	0	0	0	0	0	0	0	1	14768	874	31	1		1	SLC6A17	1	110737359	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	7275797	110737359	138513262	14	85402											
PIP5K1A	8394	broad.mit.edu	37	chr1	151196743	151196743	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctggaatcaagagaccCatggcatctgaggtgagttt	11	10	12	8	0	3	3	1	2	2	1	3	5	3	4	1	3	0	3	1	3	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:151196743C>G	ENST00000409426.1	+	2	553	c.108C>G	c.(106-108)ccC>ccG	p.P36P	PIP5K1A_ENST00000368888.4_Silent_p.P36P|PIP5K1A_ENST00000368890.4_Silent_p.P35P|PIP5K1A_ENST00000441902.2_Silent_p.P36P			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	36					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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;0.181)			TCAAGAGACCCATGGCATCTG	0.378													8	144					0	0	0	0	G	151196743	C	G	151196743	2	3	433	1	0	0	0	0	0	0	0	1	12011	581	21	4		4	PIP5K1A	1	151196743	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	40459384	151196743	98053878	15	85403											
TCHH	7062	broad.mit.edu	37	chr1	152081020	152081020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagctgttcctcctcgCggaattttctgtcacggtcc	4	12	11	14	4	2	0	1	0	1	0	6	1	5	1	3	3	1	3	3	3	1	3	rs71585886		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:152081020C>T	ENST00000368804.1	-	2	4672	c.4673G>A	c.(4672-4674)cGc>cAc	p.R1558H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1558	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCGCGGAATTTTCT	0.612													7	107					0	0	0	0	T	152081020	C	T	152081020	3	4	433	1	0	0	0	0	1	0	0	0	15794	768	27	1	1162	1	TCHH	1	152081020	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	884277	152081020	97169601	16	85404											
UBAP2L	9898	broad.mit.edu	37	chr1	154239020	154239020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggcgtgccagatatctcGggttctgtgtactccaaaac	9	10	11	11	3	2	1	0	0	2	1	4	1	3	1	2	2	3	2	2	2	4	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:154239020G>A	ENST00000428931.1	+	25	3113	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	UBAP2L_ENST00000361546.2_Silent_p.S982S|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Silent_p.S993S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	982					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGATATCTCGGGTTCTGTGT	0.498													5	362					0	0	0	0	A	154239020	G	A	154239020	2	1	433	1	0	0	0	0	0	0	0	1	16934	1103	39	1		1	UBAP2L	1	154239020	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	2158000	154239020	95011601	17	85405											
RGS5	8490	broad.mit.edu	37	chr1	163138103	163138103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacggaatgacaaggtcacCaactgagtctggcttctgga	11	9	12	9	1	3	2	1	2	2	0	3	4	3	4	1	4	2	2	1	4	4	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:163138103C>G	ENST00000313961.5	-	2	377	c.100G>C	c.(100-102)Ggt>Cgt	p.G34R	RGS5_ENST00000530507.1_Missense_Mutation_p.G34R|RGS5_ENST00000527988.1_Intron|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000367903.3_Missense_Mutation_p.G54R	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	34					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			ACAAGGTCACCAACTGAGTCT	0.478													11	134					0	0	0	0	G	163138103	C	G	163138103	3	3	433	1	0	0	0	0	1	0	0	0	13391	594	21	4	461	4	RGS5	1	163138103	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	8899083	163138103	86112518	18	85406											
LEFTY1	10637	broad.mit.edu	37	chr1	226075256	226075256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcagcagcggctgccGgggccggctcagctgctgcc	4	6	16	15	3	1	0	1	0	0	0	1	0	1	0	3	4	7	7	3	4	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:226075256G>A	ENST00000272134.5	-	3	659	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.P302L	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	194					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					AGCGGCTGCCGGGGCCGGCTC	0.692													18	37					0	0	0	0	A	226075256	G	A	226075256	3	1	433	1	0	0	0	0	1	0	0	0	8768	1115	39	1	528	1	LEFTY1	1	226075256	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	62937153	226075256	23175365	19	85407											
OTOF	9381	broad.mit.edu	37	chr2	26702488	26702488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgaggccgctggggcCgggacaggccatcaacttcg	6	4	18	13	4	1	0	1	0	0	0	2	2	1	1	4	7	1	1	4	7	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:26702488C>T	ENST00000272371.2	-	17	2072	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R649Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	649					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCTGGGGCCGGGACAGGCC	0.637													18	52					0	0	0	0	T	26702488	C	T	26702488	3	4	433	1	0	0	0	0	1	0	0	0	11374	652	23	1	4496	1	OTOF	2	26702488	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		26702488	216496885	20	85408											
TRIM54	57159	broad.mit.edu	37	chr2	27527838	27527838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtatcagagtgagctcagCgatggcatcgcgatgctggt	8	10	15	8	3	2	2	2	1	0	1	3	4	2	2	0	2	3	4	0	2	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:27527838C>T	ENST00000296098.4	+	5	921	c.651C>T	c.(649-651)agC>agT	p.S217S	TRIM54_ENST00000380075.2_Silent_p.S175S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	175					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGCTCAGCGATGGCATCG	0.607													12	37					0	0	0	0	T	27527838	C	T	27527838	2	4	433	1	0	0	0	0	0	0	0	1	16623	767	27	1		1	TRIM54	2	27527838	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	825350	27527838	215671535	21	85409											
ALK	238	broad.mit.edu	37	chr2	30142880	30142880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcccgaagatctggaagaGaaggcggggctgggaggcgc	10	4	19	8	3	1	2	0	0	1	2	2	6	2	4	1	6	0	1	1	6	3	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:30142880G>C	ENST00000389048.3	-	1	1552	c.646C>G	c.(646-648)Ctc>Gtc	p.L216V	ALK_ENST00000431873.1_Missense_Mutation_p.L216V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	216					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ATCTGGAAGAGAAGGCGGGGC	0.562			"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				6	55					0	0	0	0	C	30142880	G	C	30142880	3	2	433	1	0	0	0	0	1	0	0	0	525	942	33	2	4332	2	ALK	2	30142880	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	2615042	30142880	213056493	22	85410											
UGP2	7360	broad.mit.edu	37	chr2	64083475	64083475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctcaagatggtgcttctCagttccaagaagtcattcgg	9	13	10	9	1	3	2	3	0	2	2	7	2	4	2	1	2	1	2	1	2	3	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:64083475C>G	ENST00000337130.5	+	2	531	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	UGP2_ENST00000445915.2_Missense_Mutation_p.Q28E|UGP2_ENST00000394417.2_Missense_Mutation_p.Q8E|UGP2_ENST00000467648.2_Missense_Mutation_p.Q8E|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	19					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TGGTGCTTCTCAGTTCCAAGA	0.393													40	181					0	0	0	0	G	64083475	C	G	64083475	3	3	433	1	0	0	0	0	1	0	0	0	17039	827	29	2	61	2	UGP2	2	64083475	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	33940595	64083475	179115898	23	85411											
PCYOX1	51449	broad.mit.edu	37	chr2	70486522	70486522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccggaattggtggcacttCagcagcctattacctgcggc	8	9	12	12	2	1	0	1	0	0	0	1	1	1	1	3	4	5	2	3	4	3	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:70486522C>T	ENST00000433351.2	+	2	171	c.143C>T	c.(142-144)tCa>tTa	p.S48L	PCYOX1_ENST00000545138.1_5'UTR|PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000264441.5_Missense_Mutation_p.S48L	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	48					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGTGGCACTTCAGCAGCCTAT	0.453													105	250					0	0	0	0	T	70486522	C	T	70486522	3	4	433	1	0	0	0	0	1	0	0	0	11679	838	29	2	149	2	PCYOX1	2	70486522	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	6403047	70486522	172712851	24	85412											
ADD2	119	broad.mit.edu	37	chr2	70903955	70903955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctcttctcggcaatgacGctcgccaggagctgggactg	6	8	14	13	4	2	1	0	1	2	0	4	3	2	3	1	4	1	4	1	4	1	1	rs148402316	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:70903955G>A	ENST00000264436.3	-	13	2010	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	ADD2_ENST00000355733.3_Silent_p.S522S|ADD2_ENST00000430656.1_Silent_p.S538S|ADD2_ENST00000413157.2_Silent_p.S522S|ADD2_ENST00000407644.2_Silent_p.S522S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	522					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGGCAATGACGCTCGCCAGGA	0.602													26	63					0	0	0	0	A	70903955	G	A	70903955	2	1	433	1	0	0	0	0	0	0	0	1	305	1078	38	1		1	ADD2	2	70903955	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	417433	70903955	172295418	25	85413											
UNC50	25972	broad.mit.edu	37	chr2	99226181	99226181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtagccaaatgtttcttCagaatacgtgtaaaagaaat	15	12	8	6	2	2	2	1	0	1	2	3	2	2	2	1	1	2	3	1	1	7	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:99226181C>G	ENST00000409975.1	+	1	1140	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	UNC50_ENST00000409347.1_Missense_Mutation_p.Q4E|UNC50_ENST00000357765.2_Intron			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	0					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AATGTTTCTTCAGAATACGTG	0.438													5	244					0	0	0	0	G	99226181	C	G	99226181	3	3	433	1	0	0	0	0	1	0	0	0	17086	841	29	2		2	UNC50	2	99226181	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	28322226	99226181	143973192	26	85414											
TSGA10	80705	broad.mit.edu	37	chr2	99651803	99651803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatctgcaagagcggacaCtttttcaaactgaaccttct	13	11	6	11	1	3	2	1	1	2	1	3	3	3	3	1	1	4	1	1	1	4	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:99651803C>G	ENST00000393483.3	-	17	2348	c.1504G>C	c.(1504-1506)Gtg>Ctg	p.V502L	TSGA10_ENST00000410001.1_Missense_Mutation_p.V502L|TSGA10_ENST00000539964.1_Missense_Mutation_p.V502L|TSGA10_ENST00000355053.4_Missense_Mutation_p.V502L	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	502					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGAGCGGACACTTTTTCAAAC	0.383													7	52					0	0	0	0	G	99651803	C	G	99651803	3	3	433	1	0	0	0	0	1	0	0	0	16712	565	20	4	612	4	TSGA10	2	99651803	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	425622	99651803	143547570	27	85415											
SLC20A1	6574	broad.mit.edu	37	chr2	113404462	113404462	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttctggtcctttggtGgactacctatggatgctcat	5	14	11	11	1	2	0	1	0	1	0	3	2	3	2	3	4	2	2	3	4	2	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:113404462G>A	ENST00000272542.3	+	2	596	c.57G>A	c.(55-57)gtG>gtA	p.V19V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	19					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTCCTTTGGTGGACTACCTAT	0.483													12	51					0	0	0	0	A	113404462	G	A	113404462	2	1	433	1	0	0	0	0	0	0	0	1	14526	1335	47	4		4	SLC20A1	2	113404462	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	13752659	113404462	129794911	28	85416											
KCNH7	90134	broad.mit.edu	37	chr2	163302533	163302533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagcagttcttacctcatCagaacctgatccaaaaatca	15	11	4	11	0	4	2	3	1	1	1	5	2	5	2	3	0	3	2	3	0	5	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:163302533C>T	ENST00000332142.5	-	7	1648	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D510N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	517					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTTACCTCATCAGAACCTGAT	0.363													6	42					0	0	0	0	T	163302533	C	T	163302533	3	4	433	1	0	0	0	0	1	0	0	0	8090	826	29	2	2147	2	KCNH7	2	163302533	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	49898071	163302533	79896840	29	85417											
PDE11A	50940	broad.mit.edu	37	chr2	178936621	178936621	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagggggataccgaggcaGattcactctcgattccagca	10	9	12	10	2	2	1	1	0	1	1	4	4	3	2	2	3	2	3	2	3	2	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:178936621G>A	ENST00000286063.5	-	1	861	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	182					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TACCGAGGCAGATTCACTCTC	0.522									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	113					0	0	0	0	A	178936621	G	A	178936621	2	1	433	1	0	0	0	0	0	0	0	1	11702	933	33	2		2	PDE11A	2	178936621	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	15634088	178936621	64262752	30	85418											
NBEAL1	65065	broad.mit.edu	37	chr2	204009827	204009827	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggattgttatgaagctttaAtggtaaatatgcataaacga	16	13	9	3	1	0	1	0	1	0	0	0	3	0	2	0	2	3	4	0	2	8	7			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:204009827A>T	ENST00000449802.1	+	32	5494	c.5161A>T	c.(5161-5163)Atg>Ttg	p.M1721L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1721							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGAAGCTTTAATGGTAAATAT	0.338													7	24					0	0	0	0	T	204009827	A	T	204009827	3	4	433	1	0	0	0	0	1	0	0	0	10258	101	4	5	5283	5	NBEAL1	2	204009827	Missense_Mutation	SNP	A	TCGA-IQ-A61E-01A-22D-A30E-08	25073206	204009827	39189546	31	85419											
SP100	6672	broad.mit.edu	37	chr2	231379821	231379821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgtcaggaggagcataaGaagaagaacccagatgcttc	15	7	11	8	0	1	4	1	0	0	4	2	6	1	6	1	2	3	2	1	2	4	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:231379821G>C	ENST00000264052.5	+	25	2461	c.2106G>C	c.(2104-2106)aaG>aaC	p.K702N	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	702					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGCATAAGAAGAAGAACC	0.368													26	39					0	0	0	0	C	231379821	G	C	231379821	3	2	433	1	0	0	0	0	1	0	0	0	15048	933	33	2	2204	2	SP100	2	231379821	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	27369994	231379821	11819552	32	85420											
SP100	6672	broad.mit.edu	37	chr2	231380190	231380190	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaagaaggctgcaaagctGaaggaaaaatacaaaaagga	23	3	11	4	0	0	2	0	1	0	1	0	5	0	4	0	3	3	3	0	3	10	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:231380190G>C	ENST00000264052.5	+	25	2830	c.2475G>C	c.(2473-2475)ctG>ctC	p.L825L	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	825					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ctgcaaagctgaaggaaaaat	0.408													21	26					0	0	0	0	C	231380190	G	C	231380190	2	2	433	1	0	0	0	0	0	0	0	1	15048	1277	45	2		2	SP100	2	231380190	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	369	231380190	11819183	33	85421											
UGT1A6	54578	broad.mit.edu	37	chr2	234601679	234601679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcgctcatttcagaGaatttctgcaggggttttct	6	16	8	11	1	4	1	2	0	2	1	6	2	5	1	2	2	1	3	2	2	1	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:234601679G>T	ENST00000305139.6	+	1	168	c.29G>T	c.(28-30)aGa>aTa	p.R10I	UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TCATTTCAGAGAATTTCTGCA	0.473													5	60					0.184627	0.185299	1	0	T	234601679	G	T	234601679	3	4	433	1	0	0	0	0	1	0	0	0	17045	942	33	2	31	2	UGT1A6	2	234601679	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	3221489	234601679	8597694	34	85422											
FANCD2	2177	broad.mit.edu	37	chr3	10089632	10089632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtgttcatccattctgtCgctggctcagagtttgcttc	5	17	9	10	1	3	1	2	0	1	1	6	1	4	1	1	1	1	5	1	1	1	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:10089632C>T	ENST00000287647.3	+	16	1403	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FANCD2_ENST00000383807.1_Missense_Mutation_p.S437L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S437L|FANCD2_ENST00000419585.1_Missense_Mutation_p.S437L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	437					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCCATTCTGTCGCTGGCTCAG	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	182					0	0	0	0	T	10089632	C	T	10089632	3	4	433	1	0	0	0	0	1	0	0	0	5710	893	31	1	1368	1	FANCD2	3	10089632	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		10089632	187932798	35	85423											
MORC1	27136	broad.mit.edu	37	chr3	108773716	108773716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattaacaattccaaccaCgcctgcgccaagtctgagaa	14	9	6	12	2	1	1	0	1	1	1	2	2	2	1	4	0	3	0	4	0	7	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:108773716C>T	ENST00000232603.5	-	14	1271	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	MORC1_ENST00000483760.1_Missense_Mutation_p.V397M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	397					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTCCAACCACGCCTGCGCCA	0.308													5	44					0	0	0	0	T	108773716	C	T	108773716	3	4	433	1	0	0	0	0	1	0	0	0	9771	536	19	1	1825	1	MORC1	3	108773716	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	98684084	108773716	89248714	36	85424											
CD96	10225	broad.mit.edu	37	chr3	111316966	111316966	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttttctgtctttaccccaGagaagatttacctgcttact	8	17	5	11	0	2	2	0	0	2	2	2	3	2	2	3	0	4	1	3	0	4	7			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:111316966G>C	ENST00000352690.4	+	6	1047		c.e6-1		CD96_ENST00000438817.2_Splice_Site|CD96_ENST00000283285.5_Splice_Site	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule						cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTTACCCCAGAGAAGATTTA	0.323									Opitz Trigonocephaly syndrome				51	72					0	0	0	0	C	111316966	G	C	111316966	5	2	433	1	0	0	0	0	0	0	1	0	3077	956	33	2	881	2	CD96	3	111316966	Splice_Site	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	2543250	111316966	86705464	37	85425											
CASR	846	broad.mit.edu	37	chr3	121973189	121973189	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagctaaagatcaagatctCaaatcaaggccggagtctgt	14	8	10	9	1	4	2	3	0	2	2	5	3	4	3	1	2	1	2	1	2	5	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:121973189C>G	ENST00000498619.1	+	2	591	c.153C>G	c.(151-153)ctC>ctG	p.L51L	CASR_ENST00000296154.5_Silent_p.L51L|CASR_ENST00000490131.1_Silent_p.L51L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	51					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATCAAGATCTCAAATCAAGGC	0.498													16	106					0	0	0	0	G	121973189	C	G	121973189	2	3	433	1	0	0	0	0	0	0	0	1	2707	813	29	2		2	CASR	3	121973189	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	10656223	121973189	76049241	38	85426											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824636	125824636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgtcggtcttgttgtaCgtgttgacaaacacagtgcc	8	11	11	11	3	1	1	0	1	1	0	2	1	1	1	2	1	3	3	2	1	2	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:125824636C>T	ENST00000393434.2	-	22	2935	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	ALDH1L1_ENST00000472186.1_Silent_p.T862T|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.T872T|ALDH1L1_ENST00000452905.2_Silent_p.T761T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	862	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCTTGTTGTACGTGTTGACAA	0.527													12	161					0	0	0	0	T	125824636	C	T	125824636	2	4	433	1	0	0	0	0	0	0	0	1	494	523	19	1		1	ALDH1L1	3	125824636	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	3851447	125824636	72197794	39	85427											
ASTE1	28990	broad.mit.edu	37	chr3	130743861	130743861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccatctggatcttctctCtagctctatcctttaaagtt	7	16	7	11	0	5	0	0	0	5	0	7	1	6	1	2	2	1	2	2	2	4	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:130743861C>G	ENST00000264992.3	-	3	731	c.290G>C	c.(289-291)aGa>aCa	p.R97T	ASTE1_ENST00000514044.1_Missense_Mutation_p.R97T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	97					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GATCTTCTCTCTAGCTCTATC	0.403													11	48					0	0	0	0	G	130743861	C	G	130743861	3	3	433	1	0	0	0	0	1	0	0	0	1066	913	32	2	1765	2	ASTE1	3	130743861	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	4919225	130743861	67278569	40	85428											
ZBTB38	253461	broad.mit.edu	37	chr3	141162830	141162830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctactatatactcaaaaatCatcagaagtctttccatgcc	14	12	3	12	0	4	1	3	0	1	1	5	1	5	1	3	0	3	0	3	0	7	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:141162830C>T	ENST00000514251.1	+	4	1879	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y	ZBTB38_ENST00000321464.5_Missense_Mutation_p.H535Y|ZBTB38_ENST00000441582.2_Missense_Mutation_p.H534Y			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	534					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTCAAAAATCATCAGAAGTC	0.378													9	71					0	0	0	0	T	141162830	C	T	141162830	3	4	433	1	0	0	0	0	1	0	0	0	17634	826	29	2	1602	2	ZBTB38	3	141162830	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	10418969	141162830	56859600	41	85429											
KPNA4	3840	broad.mit.edu	37	chr3	160253595	160253595	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataacaataacaatgacttaCcactctataatcaccatcta	18	11	1	11	0	3	1	1	1	2	0	3	1	3	1	2	0	3	0	2	0	8	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:160253595C>T	ENST00000334256.4	-	3	510		c.e3+1			NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CAATGACTTACCACTCTATAA	0.294													6	30					0	0	0	0	T	160253595	C	T	160253595	5	4	433	1	0	0	0	0	0	0	1	0	8484	521	18	4	1420	4	KPNA4	3	160253595	Splice_Site	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	19090765	160253595	37768835	42	85430											
NMD3	51068	broad.mit.edu	37	chr3	160942782	160942782	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatttgtgtggcctgtttgCgaagtaaagtggacatcagc	10	13	12	6	1	1	0	1	0	0	0	1	2	1	1	1	2	2	2	1	2	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:160942782C>T	ENST00000460469.1	+	2	564	c.109C>T	c.(109-111)Cga>Tga	p.R37*	NMD3_ENST00000351193.2_Nonsense_Mutation_p.R37*|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Nonsense_Mutation_p.R37*			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	37					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GGCCTGTTTGCGAAGTAAAGT	0.383													4	138					0	0	0	0	T	160942782	C	T	160942782	4	4	433	1	0	0	0	0	0	1	0	0	10558	760	27	1	115	1	NMD3	3	160942782	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	689187	160942782	37079648	43	85431											
NLGN1	22871	broad.mit.edu	37	chr3	173997144	173997144	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtcataaccctgaaacCagaagaaagacattactggc	16	6	8	11	1	1	4	1	1	0	3	1	5	1	4	3	1	3	0	3	1	5	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:173997144C>A	ENST00000457714.1	+	6	1782	c.1353C>A	c.(1351-1353)acC>acA	p.T451T	NLGN1_ENST00000401917.3_Silent_p.T491T|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Silent_p.T451T|NLGN1_ENST00000361589.4_Silent_p.T451T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	468					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACCCTGAAACCAGAAGAAAGA	0.428													36	98					8.73648e-17	9.53071e-17	1	0	A	173997144	C	A	173997144	2	1	433	1	0	0	0	0	0	0	0	1	10531	581	21	4		4	NLGN1	3	173997144	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	13054362	173997144	24025286	44	85432											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	48					0	0	0	0	A	178936091	G	A	178936091	3	1	433	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	4938947	178936091	19086339	45	85433											
KLHL6	89857	broad.mit.edu	37	chr3	183217409	183217409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcatttttcaatgtcacGcatgcaaactccacccactt	11	12	3	15	1	3	0	3	0	0	0	4	0	4	0	3	0	2	2	3	0	2	3	rs149326068		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:183217409G>A	ENST00000341319.3	-	4	1151	c.1116C>T	c.(1114-1116)tgC>tgT	p.C372C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	372										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAATGTCACGCATGCAAACT	0.532													23	198					0	0	0	0	A	183217409	G	A	183217409	2	1	433	1	0	0	0	0	0	0	0	1	8445	1079	38	1		1	KLHL6	3	183217409	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	4281318	183217409	14805021	46	85434											
EIF2B5	8893	broad.mit.edu	37	chr3	183858347	183858347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccagaggcgaacttcactGacagcaccacccagagctgc	11	4	9	17	1	1	3	1	1	0	2	1	4	1	3	4	1	4	2	4	1	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:183858347G>A	ENST00000273783.3	+	7	1107	c.985G>A	c.(985-987)Gac>Aac	p.D329N	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D329N	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	329					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAACTTCACTGACAGCACCAC	0.577													29	263					0	0	0	0	A	183858347	G	A	183858347	3	1	433	1	0	0	0	0	1	0	0	0	5040	1290	45	2	1011	2	EIF2B5	3	183858347	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	640938	183858347	14164083	47	85435											
MFI2	4241	broad.mit.edu	37	chr3	196736529	196736529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggccggatgaagcctctCtgaataagggcacccacggg	9	7	14	11	2	1	2	0	2	1	0	2	3	1	3	3	4	1	1	3	4	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:196736529C>T	ENST00000296350.5	-	11	1598	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	495	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGAAGCCTCTCTGAATAAGGG	0.627													12	144					0	0	0	0	T	196736529	C	T	196736529	2	4	433	1	0	0	0	0	0	0	0	1	9591	912	32	2		2	MFI2	3	196736529	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	12878182	196736529	1285901	48	85436											
HGFAC	3083	broad.mit.edu	37	chr4	3446393	3446393	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgggggcacctgccacctGatcgtggccaccgggaccac	8	4	13	16	3	0	1	0	1	0	0	1	2	0	2	6	4	2	1	6	4	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:3446393G>C	ENST00000382774.3	+	7	889	c.774G>C	c.(772-774)ctG>ctC	p.L258L	HGFAC_ENST00000511533.1_Silent_p.L258L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	258	EGF-like 2.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGCCACCTGATCGTGGCCA	0.721													4	9					0	0	0	0	C	3446393	G	C	3446393	2	2	433	1	0	0	0	0	0	0	0	1	7136	1277	45	2		2	HGFAC	4	3446393	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		3446393	187707883	49	85437											
SLC34A2	10568	broad.mit.edu	37	chr4	25677805	25677805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccggcatcttgctgtggTacccgatcccgttcactcgc	4	12	9	16	4	3	0	1	0	2	0	6	1	4	0	3	2	2	4	3	2	1	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:25677805T>C	ENST00000382051.3	+	13	1557	c.1507T>C	c.(1507-1509)Tac>Cac	p.Y503H	SLC34A2_ENST00000503434.1_Missense_Mutation_p.Y502H|SLC34A2_ENST00000504570.1_Missense_Mutation_p.Y502H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	503					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTGCTGTGGTACCCGATCCC	0.577			T	ROS1	NSCLC								12	64					0	0	0	0	C	25677805	T	C	25677805	3	2	433	1	0	0	0	0	1	0	0	0	14656	1638	57	5	1553	5	SLC34A2	4	25677805	Missense_Mutation	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08	22231412	25677805	165476471	50	85438											
RBM47	54502	broad.mit.edu	37	chr4	40428064	40428064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcgatcgtggctgtagctgGagcagcaaatggcacgtaac	10	7	15	9	3	0	0	0	0	0	0	1	2	0	1	0	4	4	7	0	4	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:40428064G>A	ENST00000319592.4	-	6	2141	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	RBM47_ENST00000381795.6_Missense_Mutation_p.P478S|RBM47_ENST00000295971.7_Missense_Mutation_p.P547S|RBM47_ENST00000381793.2_Missense_Mutation_p.P547S|RBM47_ENST00000514014.1_Missense_Mutation_p.P509S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	547						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCTGTAGCTGGAGCAGCAAAT	0.587													20	61					0	0	0	0	A	40428064	G	A	40428064	3	1	433	1	0	0	0	0	1	0	0	0	13223	1174	41	2	146	2	RBM47	4	40428064	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	14750259	40428064	150726212	51	85439											
SCARB2	950	broad.mit.edu	37	chr4	77096978	77096978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaagacataaaggacctCatctttggttattagtgggt	11	13	12	5	0	2	1	1	0	1	1	2	3	2	3	1	4	0	1	1	4	5	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:77096978C>T	ENST00000264896.2	-	6	1139	c.790G>A	c.(790-792)Gag>Aag	p.E264K	SCARB2_ENST00000452464.2_Missense_Mutation_p.E121K	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	264					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAAAGGACCTCATCTTTGGTT	0.363													15	37					0	0	0	0	T	77096978	C	T	77096978	3	4	433	1	0	0	0	0	1	0	0	0	13968	835	29	2	674	2	SCARB2	4	77096978	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	36668914	77096978	114057298	52	85440											
NPY1R	4886	broad.mit.edu	37	chr4	164247687	164247687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaatgattttcaacctggGaaaataatgttgaattcatt	14	15	7	5	0	2	3	2	3	0	0	2	4	2	4	1	1	1	1	1	1	6	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:164247687G>A	ENST00000296533.2	-	2	551	c.20C>T	c.(19-21)tCc>tTc	p.S7F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	7					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCAACCTGGGAAAATAATGT	0.358													17	35					0	0	0	0	A	164247687	G	A	164247687	3	1	433	1	0	0	0	0	1	0	0	0	10679	1174	41	2	1142	2	NPY1R	4	164247687	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	87150709	164247687	26906589	53	85441											
FAT1	2195	broad.mit.edu	37	chr4	187540420	187540426	+	Frame_Shift_Del	DEL	AATGACA	AATGACA	-																															ataatccctgttgcactgtcAatgacaaaatgtttatgatc																										TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:187540420_187540426delAATGACA	ENST00000441802.2	-	10	7523_7529	c.7314_7320delTGTCATT	c.(7312-7320)ttfs	p.FVI2438fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2438	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCACTGTCAATGACAAAATGTTTAT	0.435										HNSCC(5;0.00058)			35	73	---	---	---	---					-	187540426	AATGACA	-	187540420	7	5	433	1	0	1	0	1	0	0	0	0	5734	126	5	0	6518	0	FAT1	4	187540420	Frame_Shift_Del	DEL	AATGACA	TCGA-IQ-A61E-01A-22D-A30E-08	23292733	187540420	3613856	54	85442											
FRG1	2483	broad.mit.edu	37	chr4	190874243	190874243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgatgagggccctagtcctCcagagcagtttacggctgtc	7	11	12	11	1	0	3	0	2	0	1	3	3	2	3	3	2	2	3	3	2	2	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:190874243C>A	ENST00000226798.4	+	4	502	c.280C>A	c.(280-282)Cca>Aca	p.P94T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	94					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CCCTAGTCCTCCAGAGCAGTT	0.279													3	26					6.4e-05	6.59104e-05	1	0	A	190874243	C	A	190874243	3	1	433	1	0	0	0	0	1	0	0	0	6094	855	30	2	294	2	FRG1	4	190874243	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	3333823	190874243	280033	55	85443											
DNAH5	1767	broad.mit.edu	37	chr5	13719060	13719060	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaatttaatggacatctGaaggagtgtaatgggaaact	15	10	12	4	0	1	1	0	1	1	0	1	4	1	4	0	4	1	2	0	4	5	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:13719060G>A	ENST00000265104.4	-	72	12534	c.12430C>T	c.(12430-12432)Cag>Tag	p.Q4144*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4144	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGGACATCTGAAGGAGTGTA	0.468									Kartagener syndrome				38	81					0	0	0	0	A	13719060	G	A	13719060	4	1	433	1	0	0	0	0	0	1	0	0	4641	1299	45	2	1476	2	DNAH5	5	13719060	Nonsense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		13719060	167196200	56	85444											
ADAMTS12	81792	broad.mit.edu	37	chr5	33637755	33637755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaattcactgcactgcatCtgccgaaatgttggtgcctc	9	12	8	12	1	3	0	2	0	1	0	4	1	3	0	2	1	4	3	2	1	2	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:33637755C>T	ENST00000504830.1	-	12	2150	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.Q605Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	605	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCACTGCATCTGCCGAAATG	0.478										HNSCC(64;0.19)			13	122					0	0	0	0	T	33637755	C	T	33637755	2	4	433	1	0	0	0	0	0	0	0	1	257	912	32	2		2	ADAMTS12	5	33637755	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	19918695	33637755	147277505	57	85445											
HTR1A	3350	broad.mit.edu	37	chr5	63257481	63257481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagataccagtagtgttgccGccggtctcaaagggagccgg	9	7	15	10	3	1	1	1	0	1	1	2	3	1	2	4	3	3	2	4	3	3	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:63257481G>A	ENST00000323865.3	-	1	299	c.66C>T	c.(64-66)ggC>ggT	p.G22G	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	22			G -> S (in dbSNP:rs1799920).		behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TAGTGTTGCCGCCGGTCTCAA	0.632													36	68					0	0	0	0	A	63257481	G	A	63257481	2	1	433	1	0	0	0	0	0	0	0	1	7489	1074	38	1		1	HTR1A	5	63257481	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	29619726	63257481	117657779	58	85446											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349483	65349483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgatacatttcaaccagaGatcatggaaagatcaaaaac	20	8	6	7	0	3	3	3	1	0	2	3	5	3	4	1	1	3	0	1	1	6	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:65349483G>A	ENST00000284037.5	+	21	2726	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	ERBB2IP_ENST00000508515.1_Silent_p.E779E|ERBB2IP_ENST00000511297.1_Silent_p.E775E|ERBB2IP_ENST00000380935.1_Silent_p.E779E|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Silent_p.E779E|ERBB2IP_ENST00000380936.1_Silent_p.E779E|ERBB2IP_ENST00000380943.2_Silent_p.E779E|ERBB2IP_ENST00000380939.2_Silent_p.E779E|ERBB2IP_ENST00000380938.2_Silent_p.E779E	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	779					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTCAACCAGAGATCATGGAAA	0.328													8	31					0	0	0	0	A	65349483	G	A	65349483	2	1	433	1	0	0	0	0	0	0	0	1	5245	933	33	2		2	ERBB2IP	5	65349483	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	2092002	65349483	115565777	59	85447											
AGGF1	55109	broad.mit.edu	37	chr5	76331456	76331456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcaagctatcgaaacttCtattttgaattctaaagacc	15	13	5	8	1	3	3	1	1	2	2	4	4	3	3	1	0	2	1	1	0	7	7			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:76331456C>G	ENST00000312916.7	+	3	786	c.404C>G	c.(403-405)tCt>tGt	p.S135C	AGGF1_ENST00000506806.1_Missense_Mutation_p.S135C|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	135					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATCGAAACTTCTATTTTGAAT	0.338													10	46					0	0	0	0	G	76331456	C	G	76331456	3	3	433	1	0	0	0	0	1	0	0	0	382	913	32	2	414	2	AGGF1	5	76331456	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	10981973	76331456	104583804	60	85448											
LNPEP	4012	broad.mit.edu	37	chr5	96320874	96320874	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagccacttttatcatCaagatcataagggatgagca	15	12	7	7	0	3	2	3	1	0	1	3	3	3	3	1	1	2	1	1	1	5	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:96320874C>A	ENST00000231368.5	+	3	1643	c.951C>A	c.(949-951)atC>atA	p.I317I	LNPEP_ENST00000395770.3_Silent_p.I303I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	317					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTTTATCATCAAGATCATAA	0.373													11	77					0.000673444	0.000688409	1	0	A	96320874	C	A	96320874	2	1	433	1	0	0	0	0	0	0	0	1	8919	816	29	2		2	LNPEP	5	96320874	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	19989418	96320874	84594386	61	85449											
DCP2	167227	broad.mit.edu	37	chr5	112337274	112337274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtttctgcagaccattaaggGactggctttctcgaagattt	9	14	10	8	1	2	2	0	0	2	2	3	4	2	3	1	2	1	3	1	2	2	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:112337274G>C	ENST00000389063.2	+	7	907	c.709G>C	c.(709-711)Gac>Cac	p.D237H	DCP2_ENST00000515408.1_Missense_Mutation_p.D237H|DCP2_ENST00000543319.1_Missense_Mutation_p.D26H	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ACCATTAAGGGACTGGCTTTC	0.403													32	216					0	0	0	0	C	112337274	G	C	112337274	3	2	433	1	0	0	0	0	1	0	0	0	4332	1174	41	2	735	2	DCP2	5	112337274	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	16016400	112337274	68577986	62	85450											
FBN2	2201	broad.mit.edu	37	chr5	127648348	127648348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctattgacaggggggcatgtCtcacaggggtttccccaggc	7	9	14	11	0	1	1	1	1	1	0	3	1	2	1	2	6	0	2	2	6	1	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:127648348C>T	ENST00000508053.1	-	43	5831	c.4857G>A	c.(4855-4857)gaG>gaA	p.E1619E	FBN2_ENST00000262464.4_Silent_p.E1619E			P35556	FBN2_HUMAN	fibrillin 2	1619	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGGGCATGTCTCACAGGGGT	0.512													5	371					0	0	0	0	T	127648348	C	T	127648348	2	4	433	1	0	0	0	0	0	0	0	1	5748	912	32	2		2	FBN2	5	127648348	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	15311074	127648348	53266912	63	85451											
PCDHB6	56130	broad.mit.edu	37	chr5	140531209	140531209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaacctcctacaccctgttCgtccgcgagaacaacagccc	11	6	6	18	3	0	1	0	0	0	1	3	2	2	1	5	0	5	1	5	0	4	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:140531209C>T	ENST00000231136.1	+	1	1371	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	PCDHB6_ENST00000543635.1_Silent_p.F321F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		457	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.F457F(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.612													23	221					0	0	0	0	T	140531209	C	T	140531209	2	4	433	1	0	0	0	0	0	0	0	1	11617	883	31	1		1	PCDHB6	5	140531209	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	12882861	140531209	40384051	64	85452											
ADRB2	154	broad.mit.edu	37	chr5	148207021	148207021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccatcgtgtccttctaCgttcccctggtgatcatggt	4	16	8	13	2	3	1	1	1	2	0	7	1	6	1	4	2	1	1	4	2	1	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:148207021C>T	ENST00000305988.4	+	1	866	c.627C>T	c.(625-627)taC>taT	p.Y209Y		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	209					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGTCCTTCTACGTTCCCCTGG	0.532													4	187					0	0	0	0	T	148207021	C	T	148207021	2	4	433	1	0	0	0	0	0	0	0	1	341	547	19	1		1	ADRB2	5	148207021	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	7675812	148207021	32708239	65	85453											
SYNPO	11346	broad.mit.edu	37	chr5	150029889	150029889	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaagccttccttctgcttCaagtaacgaaccccacgggg	9	9	10	13	2	2	0	1	0	1	0	3	2	3	1	4	3	4	2	4	3	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:150029889C>G	ENST00000394243.1	+	3	3158	c.2784C>G	c.(2782-2784)ttC>ttG	p.F928L	SYNPO_ENST00000522122.1_Missense_Mutation_p.F928L|SYNPO_ENST00000307662.4_Intron|SYNPO_ENST00000519664.1_Missense_Mutation_p.F684L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	928					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTCTGCTTCAAGTAACGAA	0.632													7	40					0	0	0	0	G	150029889	C	G	150029889	3	3	433	1	0	0	0	0	1	0	0	0	15547	825	29	2	2790	2	SYNPO	5	150029889	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	1822868	150029889	30885371	66	85454											
RANBP17	64901	broad.mit.edu	37	chr5	170720931	170720931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attgtctttgaagactgtcgGaaccagtggtcagtatccag	10	12	11	8	1	2	2	1	1	1	1	4	3	3	3	2	2	1	1	2	2	3	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:170720931G>A	ENST00000523189.1	+	26	3152	c.2988G>A	c.(2986-2988)cgG>cgA	p.R996R	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	996					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGACTGTCGGAACCAGTGGT	0.493			T	TRD@	ALL								29	103					0	0	0	0	A	170720931	G	A	170720931	2	1	433	1	0	0	0	0	0	0	0	1	13109	1161	41	2		2	RANBP17	5	170720931	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	20691042	170720931	10194329	67	85455											
PAK1IP1	55003	broad.mit.edu	37	chr6	10704772	10704772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaatggtccccaagaggaGagcagtatgtagttatcata	14	10	11	6	0	1	3	1	0	0	3	2	4	2	3	2	2	1	4	2	2	7	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:10704772G>C	ENST00000379568.3	+	6	820	c.529G>C	c.(529-531)Gag>Cag	p.E177Q		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	177					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				CCCAAGAGGAGAGCAGTATGT	0.323													6	8					0	0	0	0	C	10704772	G	C	10704772	3	2	433	1	0	0	0	0	1	0	0	0	11471	943	33	2	551	2	PAK1IP1	6	10704772	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		10704772	160410295	68	85456											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860654	27860654	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcttgttgagctcctCgtcgttgcggatggccagct	6	11	13	11	3	0	1	0	1	0	0	3	2	1	2	2	2	5	6	2	2	1	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:27860654C>A	ENST00000359611.2	-	1	309	c.274G>T	c.(274-276)Gag>Tag	p.E92*	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	92					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TTGAGCTCCTCGTCGTTGCGG	0.597													14	268					4.93089e-13	5.35798e-13	1	0	A	27860654	C	A	27860654	4	1	433	1	0	0	0	0	0	1	0	0	7189	893	31	3	122	3	HIST1H2AM	6	27860654	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	17155882	27860654	143254413	69	85457											
UBR2	23304	broad.mit.edu	37	chr6	42573562	42573562	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaactgtacacaaaaaGaagctattggttttgcaact	14	13	7	7	0	0	1	0	0	0	1	0	1	0	1	0	1	5	5	0	1	7	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:42573562G>T	ENST00000372901.1	+	6	1024	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	UBR2_ENST00000372903.2_Nonsense_Mutation_p.E256*|UBR2_ENST00000372899.1_Nonsense_Mutation_p.E256*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	256					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACACAAAAAGAAGCTATTGG	0.318													14	49					6.72482e-11	7.2502e-11	1	0	T	42573562	G	T	42573562	4	4	433	1	0	0	0	0	0	1	0	0	16998	943	33	2	788	2	UBR2	6	42573562	Nonsense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	14712908	42573562	128541505	70	85458											
CUL7	9820	broad.mit.edu	37	chr6	43006377	43006377	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggcccaatcgcctgattGagcatgtctgcggagagccc	8	7	14	12	2	1	3	0	2	1	1	2	4	1	3	3	3	3	1	3	3	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:43006377G>C	ENST00000535468.1	-	24	4832	c.4746C>G	c.(4744-4746)ctC>ctG	p.L1582L	CUL7_ENST00000265348.3_Silent_p.L1498L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1498					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			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)			TCGCCTGATTGAGCATGTCTG	0.587													13	144					0	0	0	0	C	43006377	G	C	43006377	2	2	433	1	0	0	0	0	0	0	0	1	4092	1277	45	2		2	CUL7	6	43006377	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	432815	43006377	128108690	71	85459											
TNFRSF21	27242	broad.mit.edu	37	chr6	47221044	47221044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacaacatcgtttctcCggtgctggcgcagggcgcta	6	10	11	14	4	2	0	0	0	2	0	5	0	2	0	2	3	2	4	2	3	2	2	rs148136049		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:47221044C>T	ENST00000296861.2	-	4	1850	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	486	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ATCGTTTCTCCGGTGCTGGCG	0.612													7	20					0	0	0	0	T	47221044	C	T	47221044	3	4	433	1	0	0	0	0	1	0	0	0	16389	652	23	1	522	1	TNFRSF21	6	47221044	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	4214667	47221044	123894023	72	85460											
SYNCRIP	10492	broad.mit.edu	37	chr6	86333818	86333818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttttccagaacgaatttCatgattattatactgaaagg	14	15	7	5	1	1	3	1	2	0	1	2	4	2	3	1	1	2	1	1	1	6	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:86333818C>T	ENST00000355238.6	-	7	885	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.E227K	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	227	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GAACGAATTTCATGATTATTA	0.333													4	54					0	0	0	0	T	86333818	C	T	86333818	3	4	433	1	0	0	0	0	1	0	0	0	15535	835	29	2	1258	2	SYNCRIP	6	86333818	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	39112774	86333818	84781249	73	85461											
EPHA7	2045	broad.mit.edu	37	chr6	93969138	93969138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggcgaattgatggacagCtctatttgggtcctcatagg	8	13	12	8	1	2	1	1	1	1	0	3	3	3	2	1	4	1	1	1	4	3	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:93969138C>T	ENST00000369303.4	-	10	2042	c.1858G>A	c.(1858-1860)Gct>Act	p.A620T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	620						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATGGACAGCTCTATTTGGG	0.438													27	55					0	0	0	0	T	93969138	C	T	93969138	3	4	433	1	0	0	0	0	1	0	0	0	5210	797	28	4	1170	4	EPHA7	6	93969138	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	7635320	93969138	77145929	74	85462											
UTRN	7402	broad.mit.edu	37	chr6	145157645	145157645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataaacagctggagtctCagctccaccgcctccgacag	12	6	8	15	2	1	0	1	0	1	0	4	2	3	1	4	1	3	2	4	1	3	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:145157645C>A	ENST00000367545.3	+	70	10033	c.10033C>A	c.(10033-10035)Cag>Aag	p.Q3345K	UTRN_ENST00000367526.4_Missense_Mutation_p.Q900K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3345					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTGGAGTCTCAGCTCCACCG	0.532													22	41					1.2644e-06	1.3269e-06	1	0	A	145157645	C	A	145157645	3	1	433	1	0	0	0	0	1	0	0	0	17199	827	29	2	10311	2	UTRN	6	145157645	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	51188507	145157645	25957422	75	85463											
RAET1G	353091	broad.mit.edu	37	chr6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccacctggccttgaaccGcacaccaccgtggtccaggt	8	7	9	17	2	0	1	0	1	0	0	2	1	2	1	7	3	1	1	7	3	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	51	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532													5	197					0	0	0	0	A	150240886	G	A	150240886	3	1	433	1	0	0	0	0	1	0	0	0	13082	1087	38	1	868	1	RAET1G	6	150240886	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	5083241	150240886	20874181	76	85464											
MTHFD1L	25902	broad.mit.edu	37	chr6	151331049	151331049	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcccaacgtggttgtgttAgtggcaacggtgcgagctct	6	11	15	9	3	1	0	0	0	1	0	1	1	1	0	1	3	5	4	1	3	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:151331049A>T	ENST00000367321.3	+	21	2494	c.2220A>T	c.(2218-2220)ttA>ttT	p.L740F	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	740	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTGTGTTAGTGGCAACGG	0.507													15	86					0	0	0	0	T	151331049	A	T	151331049	3	4	433	1	0	0	0	0	1	0	0	0	9998	417	15	5	2302	5	MTHFD1L	6	151331049	Missense_Mutation	SNP	A	TCGA-IQ-A61E-01A-22D-A30E-08	1090163	151331049	19784018	77	85465											
EPDR1	54749	broad.mit.edu	37	chr7	37988620	37988620	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagcagatcaccgtccagGagtggtcggacagaaagtca	13	5	14	9	2	2	2	2	0	0	2	4	5	3	5	2	4	1	1	2	4	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:37988620G>T	ENST00000199448.4	+	2	827	c.448G>T	c.(448-450)Gag>Tag	p.E150*	EPDR1_ENST00000476620.1_Nonsense_Mutation_p.E48*|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Nonsense_Mutation_p.E89*|EPDR1_ENST00000559325.1_Nonsense_Mutation_p.E270*	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	150					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CACCGTCCAGGAGTGGTCGGA	0.493													8	91					3.09899e-07	3.27709e-07	1	0	T	37988620	G	T	37988620	4	4	433	1	0	0	0	0	0	1	0	0	5201	1175	41	2	814	2	EPDR1	7	37988620	Nonsense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		37988620	121150043	78	85466											
GSTK1	373156	broad.mit.edu	37	chr7	142964718	142964718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattcccttaggctgcagaGaaggctggtatgtctgcaga	10	11	12	8	0	1	2	0	0	1	2	2	3	2	2	1	3	2	5	1	3	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142964718G>A	ENST00000479303.1	+	5	655	c.597G>A	c.(595-597)gaG>gaA	p.E199E	GSTK1_ENST00000409500.3_Silent_p.E131E|GSTK1_ENST00000358406.5_Silent_p.E143E|GSTK1_ENST00000443571.2_Silent_p.E100E|AC073342.12_ENST00000427392.1_RNA	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	143						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AGGCTGCAGAGAAGGCTGGTA	0.493													25	114					0	0	0	0	A	142964718	G	A	142964718	2	1	433	1	0	0	0	0	0	0	0	1	6886	933	33	2		2	GSTK1	7	142964718	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	104976098	142964718	16173945	79	85467											
CDK5	1020	broad.mit.edu	37	chr7	150752371	150752371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagcacatcacctgcaaaGatgcagccggctgaccacat	12	5	8	16	1	1	2	1	1	0	1	1	2	1	2	4	1	4	4	4	1	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:150752371G>A	ENST00000485972.1	-	8	1254	c.573C>T	c.(571-573)atC>atT	p.I191I	CDK5_ENST00000297518.4_Silent_p.I159I	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	191	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CACCTGCAAAGATGCAGCCGG	0.592													15	46					0	0	0	0	A	150752371	G	A	150752371	2	1	433	1	0	0	0	0	0	0	0	1	3171	932	33	2		2	CDK5	7	150752371	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	7787653	150752371	8386292	80	85468											
MTUS1	57509	broad.mit.edu	37	chr8	17579328	17579328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctctctgaaccagccGgtggggtgagtgtagaattg	8	10	15	8	1	1	3	0	2	1	1	2	3	1	3	3	3	3	1	3	3	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:17579328G>A	ENST00000381861.3	-	1	402	c.83C>T	c.(82-84)cCg>cTg	p.P28L	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000262102.6_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGAACCAGCCGGTGGGGTGAG	0.423													5	53					0	0	0	0	A	17579328	G	A	17579328	3	1	433	1	0	0	0	0	1	0	0	0	10035	1116	39	1	1643	1	MTUS1	8	17579328	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		17579328	128784694	81	85469											
XKR4	114786	broad.mit.edu	37	chr8	56436091	56436091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttctggatcgtccactgtGagacagaattctgtatcacc	9	12	8	12	1	3	2	1	1	2	2	5	4	4	3	3	1	0	1	3	1	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:56436091G>C	ENST00000327381.5	+	3	1358	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	420						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGTCCACTGTGAGACAGAATT	0.473													26	220					0	0	0	0	C	56436091	G	C	56436091	3	2	433	1	0	0	0	0	1	0	0	0	17529	1291	45	2	1268	2	XKR4	8	56436091	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	38856763	56436091	89927931	82	85470											
CPNE3	8895	broad.mit.edu	37	chr8	87552514	87552514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtttggaggcctttcaaGatctctcttaactcactgtg	7	15	8	11	0	4	1	2	0	2	1	5	2	4	2	2	2	1	1	2	2	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:87552514G>A	ENST00000521271.1	+	8	747	c.585G>A	c.(583-585)aaG>aaA	p.K195K	CPNE3_ENST00000198765.4_Silent_p.K195K	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	195	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGCCTTTCAAGATCTCTCTTA	0.308													9	100					0	0	0	0	A	87552514	G	A	87552514	2	1	433	1	0	0	0	0	0	0	0	1	3843	933	33	2		2	CPNE3	8	87552514	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	31116423	87552514	58811508	83	85471											
TSNARE1	203062	broad.mit.edu	37	chr8	143425798	143425798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgggtgatgaggtgggctCcggcatccggctgccttcag	4	9	18	10	2	1	2	1	2	0	0	3	2	3	2	3	6	1	3	3	6	0	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:143425798C>T	ENST00000524325.1	-	4	449	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TSNARE1_ENST00000520166.1_Missense_Mutation_p.E92K|TSNARE1_ENST00000307180.3_Missense_Mutation_p.E92K|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	92					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAGGTGGGCTCCGGCATCCGG	0.692													5	11					0	0	0	0	T	143425798	C	T	143425798	3	4	433	1	0	0	0	0	1	0	0	0	16725	864	30	2	1307	2	TSNARE1	8	143425798	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	55873284	143425798	2938224	84	85472											
PLEC	5339	broad.mit.edu	37	chr8	144996545	144996545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtctcctgcagcagctgctCctgctgcaccgtctgcatct	4	11	9	17	2	3	0	0	0	3	0	5	0	4	0	3	0	7	7	3	0	0	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:144996545C>T	ENST00000322810.4	-	32	8024	c.7855G>A	c.(7855-7857)Gag>Aag	p.E2619K	PLEC_ENST00000354589.3_Missense_Mutation_p.E2482K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2468K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2482K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2450K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2509K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2505K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2460K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2486K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2619	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2619*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGCTGCTCCTGCTGCACC	0.627													14	84					0	0	0	0	T	144996545	C	T	144996545	3	4	433	1	0	0	0	0	1	0	0	0	12124	864	30	2	6203	2	PLEC	8	144996545	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	1570747	144996545	1367477	85	85473											
MAF1	84232	broad.mit.edu	37	chr8	145160601	145160601	+	Missense_Mutation	SNP	G	G	C																															aaagacatgaagctattggaGaactcgagctttgaagccat																										TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145160601G>C	ENST00000534585.1	+	2	406	c.15G>C	c.(13-15)gaG>gaC	p.E5D	MAF1_ENST00000322428.5_Missense_Mutation_p.E5D|MAF1_ENST00000532522.1_Missense_Mutation_p.E5D			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	5					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTATTGGAGAACTCGAGCT	0.572													16	93					0	0	0	0	C	145160601	G	C	145160601	3	2	433	1	0	0	0	0	1	0	0	0	9221	933	33	2	17	2	MAF1	8	145160601	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	164056	145160601	1203421	86	85474	1071	2									
MAF1	84232	broad.mit.edu	37	chr8	145160607	145160607	+	Silent	SNP	G	G	A																															atgaagctattggagaactcGagctttgaagccatcaactc																								rs17852938		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145160607G>A	ENST00000534585.1	+	2	412	c.21G>A	c.(19-21)tcG>tcA	p.S7S	MAF1_ENST00000322428.5_Silent_p.S7S|MAF1_ENST00000532522.1_Silent_p.S7S			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	7					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGAGAACTCGAGCTTTGAAG	0.562													17	101					0	0	0	0	A	145160607	G	A	145160607	2	1	433	1	0	0	0	0	0	0	0	1	9221	1045	37	1		1	MAF1	8	145160607	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	6	145160607	1203415	87	85475	1071	2									
KIFC2	90990	broad.mit.edu	37	chr8	145694699	145694699	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctggagggcctggcactCagctccctgaggggcagcaa	8	6	14	13	0	2	1	1	1	1	0	3	2	3	2	2	5	2	4	2	5	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145694699C>G	ENST00000301332.2	+	11	1536	c.1159C>G	c.(1159-1161)Cag>Gag	p.Q387E	KIFC2_ENST00000301331.5_Missense_Mutation_p.Q135E	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	387					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|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)			GCCTGGCACTCAGCTCCCTGA	0.667													8	27					0	0	0	0	G	145694699	C	G	145694699	3	3	433	1	0	0	0	0	1	0	0	0	8364	827	29	2	1201	2	KIFC2	8	145694699	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	534092	145694699	669323	88	85476											
GPT	2875	broad.mit.edu	37	chr8	145730447	145730447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcggtacattgagaggcGtgacggaggcatccctgcgg	7	6	18	10	5	0	2	0	2	0	1	1	4	1	3	1	6	2	2	1	6	1	2	rs146211713	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145730447G>A	ENST00000394955.2	+	4	651	c.428G>A	c.(427-429)cGt>cAt	p.R143H	GPT_ENST00000528431.1_Missense_Mutation_p.R143H	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	143					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTGAGAGGCGTGACGGAGGC	0.637													20	88					0	0	0	0	A	145730447	G	A	145730447	3	1	433	1	0	0	0	0	1	0	0	0	6787	1145	40	1	442	1	GPT	8	145730447	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	35748	145730447	633575	89	85477											
PRUNE2	158471	broad.mit.edu	37	chr9	79465381	79465381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcacagtggatcttacctCgccagcacactgctgccaac	9	9	7	16	1	2	0	1	0	1	0	3	1	2	1	3	1	5	2	3	1	2	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:79465381C>T	ENST00000376718.3	-	3	465	c.342G>A	c.(340-342)gcG>gcA	p.A114A	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.A114A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	114					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATCTTACCTCGCCAGCACAC	0.438													6	61					0	0	0	0	T	79465381	C	T	79465381	2	4	433	1	0	0	0	0	0	0	0	1	12720	871	31	1		1	PRUNE2	9	79465381	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		79465381	61748050	90	85478											
RNF20	56254	broad.mit.edu	37	chr9	104324544	104324544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcacgcttgacctgtcCgtgctgtaacatgcgtaaaa	10	11	10	10	3	0	1	0	1	0	0	1	1	1	1	2	1	3	5	2	1	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:104324544C>T	ENST00000389120.3	+	20	2858	c.2768C>T	c.(2767-2769)cCg>cTg	p.P923L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	923					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTGACCTGTCCGTGCTGTAAC	0.418													29	62					0	0	0	0	T	104324544	C	T	104324544	3	4	433	1	0	0	0	0	1	0	0	0	13558	652	23	1	2842	1	RNF20	9	104324544	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	24859163	104324544	36888887	91	85479											
IKBKAP	8518	broad.mit.edu	37	chr9	111656254	111656254	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggccaatggctttttcAtatcgtttcaagtatttgtc	8	17	9	7	1	2	0	2	0	0	0	4	0	2	0	1	3	0	3	1	3	4	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:111656254A>T	ENST00000374647.5	-	26	3136	c.2829T>A	c.(2827-2829)taT>taA	p.Y943*	IKBKAP_ENST00000537196.1_Nonsense_Mutation_p.Y594*	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	943					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGCTTTTTCATATCGTTTCA	0.333													5	37					0	0	0	0	T	111656254	A	T	111656254	4	4	433	1	0	0	0	0	0	1	0	0	7663	224	8	5	1217	5	IKBKAP	9	111656254	Nonsense_Mutation	SNP	A	TCGA-IQ-A61E-01A-22D-A30E-08	7331710	111656254	29557177	92	85480											
HSPA5	3309	broad.mit.edu	37	chr9	128002577	128002577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatgtatggtttagttttCttttcaaccacctattttaa	10	20	5	6	0	2	1	1	1	1	0	2	1	2	1	2	1	1	3	2	1	6	10			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:128002577C>G	ENST00000324460.6	-	3	569	c.366G>C	c.(364-366)aaG>aaC	p.K122N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	122					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GTTTAGTTTTCTTTTCAACCA	0.338										Prostate(1;0.17)			6	36					0	0	0	0	G	128002577	C	G	128002577	3	3	433	1	0	0	0	0	1	0	0	0	7466	912	32	2	1622	2	HSPA5	9	128002577	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	16346323	128002577	13210854	93	85481											
TTC16	158248	broad.mit.edu	37	chr9	130493006	130493006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgacattctctgactcGtcactgttgaagacgcaatc	9	11	9	12	3	2	4	1	3	1	1	5	4	2	4	1	0	0	2	1	0	2	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:130493006G>A	ENST00000373289.3	+	14	2024	c.1944G>A	c.(1942-1944)tcG>tcA	p.S648S	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	648							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCTCTGACTCGTCACTGTTGA	0.572													21	54					0	0	0	0	A	130493006	G	A	130493006	2	1	433	1	0	0	0	0	0	0	0	1	16779	1132	40	1		1	TTC16	9	130493006	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	2490429	130493006	10720425	94	85482											
CIZ1	25792	broad.mit.edu	37	chr9	130941370	130941370	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgtggctgcacctgcttCtgtggctctgcctcctgctg	2	13	11	15	0	2	0	0	0	2	0	3	0	3	0	4	2	4	5	4	2	0	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:130941370C>T	ENST00000538431.1	-	8	1363	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	CIZ1_ENST00000357558.5_Silent_p.Q372Q|CIZ1_ENST00000372954.1_Silent_p.Q348Q|CIZ1_ENST00000372938.5_Silent_p.Q372Q|CIZ1_ENST00000325721.8_Silent_p.Q343Q|CIZ1_ENST00000277465.4_Silent_p.Q372Q|CIZ1_ENST00000393608.1_Silent_p.Q372Q|CIZ1_ENST00000541172.1_Silent_p.Q271Q|CIZ1_ENST00000372948.3_Silent_p.Q372Q|CIZ1_ENST00000476727.2_Intron	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	372	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						gcacctgcttctgtggctctg	0.612													34	34					0	0	0	0	T	130941370	C	T	130941370	2	4	433	1	0	0	0	0	0	0	0	1	3471	912	32	2		2	CIZ1	9	130941370	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	448364	130941370	10272061	95	85483											
FIBCD1	84929	broad.mit.edu	37	chr9	133799753	133799753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgacggagttcaccaggtGagccatgtggccctggctct	6	9	14	12	1	2	2	1	2	1	0	2	3	2	3	3	4	1	3	3	4	0	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:133799753G>A	ENST00000372338.4	-	3	825	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	FIBCD1_ENST00000372337.2_Missense_Mutation_p.H37Y|FIBCD1_ENST00000253018.4_Missense_Mutation_p.H37Y|FIBCD1_ENST00000448616.1_Missense_Mutation_p.H195Y	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	195					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TTCACCAGGTGAGCCATGTGG	0.692													8	22					0	0	0	0	A	133799753	G	A	133799753	3	1	433	1	0	0	0	0	1	0	0	0	5929	1290	45	2	822	2	FIBCD1	9	133799753	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	2858383	133799753	7413678	96	85484											
NOTCH1	4851	broad.mit.edu	37	chr9	139402533	139402546	+	Frame_Shift_Del	DEL	CGTGTTGCCCGCGT	CGTGTTGCCCGCGT	-																															gcctggcagcggcagtggtgCgtgttgcccgcgtccacaca																										TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:139402533_139402546delCGTGTTGCCCGCGT	ENST00000277541.6	-	21	3446_3459	c.3371_3384delACGCGGGCAACACG	c.(3370-3384)gfs	p.DAGNT1124fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1124	EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCAGTGGTGCGTGTTGCCCGCGTCCACACAGAG	0.673			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			21	43	---	---	---	---					-	139402546	CGTGTTGCCCGCGT	-	139402533	7	5	433	1	0	1	0	1	0	0	0	0	10617	755	27	0	4339	0	NOTCH1	9	139402533	Frame_Shift_Del	DEL	CGTGTTGCCCGCGT	TCGA-IQ-A61E-01A-22D-A30E-08	5602780	139402533	1810898	97	85485											
ANKRD30A	91074	broad.mit.edu	37	chr10	37447507	37447507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaggacatgcaaactttCaaagcaggtaaattttgtaa	16	12	8	5	0	1	1	1	1	0	0	1	2	1	2	0	2	3	4	0	2	6	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:37447507C>G	ENST00000374660.1	+	15	1824	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.F575L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F575L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	631						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCAAACTTTCAAAGCAGGTA	0.303													7	54					0	0	0	0	G	37447507	C	G	37447507	3	3	433	1	0	0	0	0	1	0	0	0	658	825	29	2	1783	2	ANKRD30A	10	37447507	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		37447507	98087240	98	85486											
ZNF488	118738	broad.mit.edu	37	chr10	48371065	48371065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagaggcctgagctaacctCagtcttccctgcaggggaat	10	8	12	11	0	2	2	1	1	1	1	3	4	3	3	3	3	3	2	3	3	2	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:48371065C>T	ENST00000395702.2	+	2	760	c.533C>T	c.(532-534)tCa>tTa	p.S178L	ZNF488_ENST00000586537.1_Missense_Mutation_p.S71L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GAGCTAACCTCAGTCTTCCCT	0.562													20	82					0	0	0	0	T	48371065	C	T	48371065	3	4	433	1	0	0	0	0	1	0	0	0	18035	838	29	2	535	2	ZNF488	10	48371065	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	10923558	48371065	87163682	99	85487											
ZNF488	118738	broad.mit.edu	37	chr10	48371155	48371155	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgttggggtcgactttCaactcccaagcttttggttg	5	15	11	10	2	1	0	1	0	0	0	3	1	2	0	1	3	2	4	1	3	2	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:48371155C>A	ENST00000395702.2	+	2	850	c.623C>A	c.(622-624)tCa>tAa	p.S208*	ZNF488_ENST00000586537.1_Nonsense_Mutation_p.S101*|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GGTCGACTTTCAACTCCCAAG	0.537													19	108					5.35267e-07	5.63869e-07	1	0	A	48371155	C	A	48371155	4	1	433	1	0	0	0	0	0	1	0	0	18035	838	29	2	625	2	ZNF488	10	48371155	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	90	48371155	87163592	100	85488											
NCOA4	8031	broad.mit.edu	37	chr10	51581333	51581333	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctttgaagctgacacaatTactctgcgccagaccatcac	11	10	6	14	1	3	3	1	2	2	1	3	3	3	3	2	0	3	1	2	0	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:51581333T>C	ENST00000452682.1	+	6	735	c.483T>C	c.(481-483)atT>atC	p.I161I	NCOA4_ENST00000443446.1_Silent_p.I145I|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000430396.2_Silent_p.I45I|NCOA4_ENST00000374082.1_Silent_p.I145I|NCOA4_ENST00000438493.1_Silent_p.I161I|NCOA4_ENST00000374087.4_Silent_p.I145I|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Silent_p.I145I	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	145					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTGACACAATTACTCTGCGCC	0.438			T	RET	papillary thyroid								3	50					0	0	0	0	C	51581333	T	C	51581333	2	2	433	1	0	0	0	0	0	0	0	1	10301	1742	61	5		5	NCOA4	10	51581333	Silent	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08	3210178	51581333	83953414	101	85489											
POLR3A	11128	broad.mit.edu	37	chr10	79781930	79781930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacatcgtttaggaaaatGatttctgtcagtttcattgt	12	17	7	5	1	3	1	2	1	1	0	4	2	3	2	0	1	1	2	0	1	4	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:79781930G>A	ENST00000372371.3	-	6	995	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	286					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTAGGAAAATGATTTCTGTCA	0.388													20	49					0	0	0	0	A	79781930	G	A	79781930	2	1	433	1	0	0	0	0	0	0	0	1	12300	1280	45	2		2	POLR3A	10	79781930	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	28200597	79781930	55752817	102	85490											
PAPSS2	9060	broad.mit.edu	37	chr10	89503153	89503153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgtttgcattccagttgCgcaatcctgtccacaatggc	7	12	10	12	2	0	0	0	0	0	0	3	0	3	0	3	2	2	4	3	2	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:89503153C>T	ENST00000361175.4	+	10	1600	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	PAPSS2_ENST00000456849.1_Missense_Mutation_p.R416C|PAPSS2_ENST00000427144.2_Missense_Mutation_p.R415C	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	411					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATTCCAGTTGCGCAATCCTGT	0.537													36	131					0	0	0	0	T	89503153	C	T	89503153	3	4	433	1	0	0	0	0	1	0	0	0	11506	768	27	1	1288	1	PAPSS2	10	89503153	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	9721223	89503153	46031594	103	85491											
KIF20B	9585	broad.mit.edu	37	chr10	91532581	91532581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctcctattgatatatcagGccaagtggtaagctagtatt	12	14	8	7	0	2	1	1	1	1	0	3	1	2	1	2	2	1	3	2	2	7	8			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:91532581G>A	ENST00000416354.1	+	32	5540	c.5468G>A	c.(5467-5469)gGc>gAc	p.G1823D	KIF20B_ENST00000260753.4_Missense_Mutation_p.G1753D|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.G1793D			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1793					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATATATCAGGCCAAGTGGTA	0.328													29	118					0	0	0	0	A	91532581	G	A	91532581	3	1	433	1	0	0	0	0	1	0	0	0	8338	1203	42	4	5380	4	KIF20B	10	91532581	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	2029428	91532581	44002166	104	85492											
TBC1D12	23232	broad.mit.edu	37	chr10	96162517	96162534	+	In_Frame_Del	DEL	GGAGGAGGCTGACGAGGA	GGAGGAGGCTGACGAGGA	-																															gtcggcgctgtggagccgccGgaggaggctgacgaggagga																										TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:96162517_96162534delGGAGGAGGCTGACGAGGA	ENST00000225235.4	+	1	257_274	c.147_164delGGAGGAGGCTGACGAGGA	c.(145-165)ccg>cc	p.PEEADEE49del		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	49						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TGGAGCCGCCggaggaggctgacgaggaggaggaggct	0.72													2	4	---	---	---	---					-	96162534	GGAGGAGGCTGACGAGGA	-	96162517	7	5	433	1	0	1	0	1	0	0	0	0	15692	1103	39	0	149	0	TBC1D12	10	96162517	In_Frame_Del	DEL	GGAGGAGGCTGACGAGGA	TCGA-IQ-A61E-01A-22D-A30E-08	4629936	96162517	39372230	105	85493											
CWF19L1	55280	broad.mit.edu	37	chr10	102005556	102005556	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggaataaaggtacttacGaggtttgcgaggctgctttg	9	13	13	6	2	1	0	0	0	1	0	1	3	1	1	0	4	4	4	0	4	5	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:102005556G>A	ENST00000354105.4	-	9	1050	c.964_splice	c.e9+1	p.P322_splice	CWF19L1_ENST00000370379.1_Splice_Site_p.P77_splice|CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	322							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AGGTACTTACGAGGTTTGCGA	0.418													7	64					0	0	0	0	A	102005556	G	A	102005556	5	1	433	1	0	0	0	0	0	0	1	0	4103	1072	37	1	676	1	CWF19L1	10	102005556	Splice_Site	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	5843039	102005556	33529191	106	85494											
EBF3	253738	broad.mit.edu	37	chr10	131646669	131646669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaaccttgggtaaccttTcgggatcacccggatgtctt	8	13	9	11	2	2	0	1	0	1	0	3	2	2	2	3	3	3	1	3	3	3	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:131646669T>C	ENST00000368648.3	-	11	1160	c.1088A>G	c.(1087-1089)gAa>gGa	p.E363G	EBF3_ENST00000355311.5_Missense_Mutation_p.E372G	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	372					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			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)		GGGTAACCTTTCGGGATCACC	0.537													4	157					0	0	0	0	C	131646669	T	C	131646669	3	2	433	1	0	0	0	0	1	0	0	0	4918	1783	62	5	591	5	EBF3	10	131646669	Missense_Mutation	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08	29641113	131646669	3888078	107	85495											
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			9	42					0	0	0	0	T	534289	C	T	534289	3	4	433	1	0	0	0	0	1	0	0	0	7398	652	23	1	618	1	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		534289	134472227	108	85496											
OR51S1	119692	broad.mit.edu	37	chr11	4870167	4870167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcaccagcaagggcgatgCccagcagtgtgggcatcagg	10	4	16	11	1	1	0	1	0	0	0	1	2	1	0	2	3	4	4	2	3	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:4870167C>A	ENST00000322101.2	-	1	347	c.272G>T	c.(271-273)gGc>gTc	p.G91V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGGCGATGCCCAGCAGTGT	0.552													9	105					3.09899e-07	3.27709e-07	1	0	A	4870167	C	A	4870167	3	1	433	1	0	0	0	0	1	0	0	0	11176	739	26	4	702	4	OR51S1	11	4870167	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	4335878	4870167	130136349	109	85497											
IPO7	10527	broad.mit.edu	37	chr11	9451226	9451226	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctcttacagctaaaGaatatatcacaccattcatc	13	14	2	12	0	4	1	2	0	2	1	6	1	4	1	1	0	2	1	1	0	6	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:9451226G>T	ENST00000379719.3	+	15	1739	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	533					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			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)		TACAGCTAAAGAATATATCAC	0.303													3	22					1	1	1	0	T	9451226	G	T	9451226	4	4	433	1	0	0	0	0	0	1	0	0	7850	943	33	2	1655	2	IPO7	11	9451226	Nonsense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	4581059	9451226	125555290	110	85498											
MICALCL	84953	broad.mit.edu	37	chr11	12313752	12313752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccttctccttctcttcctCttccttcatcgtcttcccat	3	18	1	19	1	5	0	1	0	4	0	11	0	8	0	5	0	0	0	5	0	0	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:12313752C>T	ENST00000256186.2	+	2	328	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	13	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ttctcttcctcttccttcatc	0.478													6	46					0	0	0	0	T	12313752	C	T	12313752	3	4	433	1	0	0	0	0	1	0	0	0	9641	913	32	2	39	2	MICALCL	11	12313752	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	2862526	12313752	122692764	111	85499											
TEAD1	7003	broad.mit.edu	37	chr11	12785897	12785897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtctggagccccgacatcGagcaaagctttcaggaggcc	9	6	14	12	2	2	0	1	0	1	0	3	4	2	2	3	4	3	2	3	4	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:12785897G>A	ENST00000361905.4	+	3	738	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TEAD1_ENST00000361985.2_Missense_Mutation_p.E40K|TEAD1_ENST00000527575.1_Missense_Mutation_p.E40K|TEAD1_ENST00000334310.6_Missense_Mutation_p.E25K|TEAD1_ENST00000527636.1_Missense_Mutation_p.E40K	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	40					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCCCGACATCGAGCAAAGCTT	0.512													33	80					0	0	0	0	A	12785897	G	A	12785897	3	1	433	1	0	0	0	0	1	0	0	0	15832	1059	37	1	120	1	TEAD1	11	12785897	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	472145	12785897	122220619	112	85500											
MADD	8567	broad.mit.edu	37	chr11	47296258	47296258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgtgcggcagcggcgcatGagccttcgggatgatacctc	7	7	15	12	5	0	2	0	2	0	0	2	3	0	3	2	3	5	2	2	3	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:47296258G>A	ENST00000342922.4	+	3	564	c.207G>A	c.(205-207)atG>atA	p.M69I	MADD_ENST00000407859.3_Missense_Mutation_p.M69I|MADD_ENST00000406482.1_Missense_Mutation_p.M69I|MADD_ENST00000402799.1_Missense_Mutation_p.M69I|MADD_ENST00000395336.3_Missense_Mutation_p.M69I|MADD_ENST00000395344.3_Missense_Mutation_p.M69I|MADD_ENST00000349238.3_Missense_Mutation_p.M69I|MADD_ENST00000311027.5_Missense_Mutation_p.M69I|MADD_ENST00000402192.2_Missense_Mutation_p.M69I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	69	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGCGGCGCATGAGCCTTCGGG	0.567													34	278					0	0	0	0	A	47296258	G	A	47296258	3	1	433	1	0	0	0	0	1	0	0	0	9217	1290	45	2	213	2	MADD	11	47296258	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	34510361	47296258	87710258	113	85501											
AGBL2	79841	broad.mit.edu	37	chr11	47721085	47721085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaggctgatagaaatattCtggttgaggtggagcccact	10	13	12	6	0	1	3	0	2	1	1	1	4	1	4	1	4	1	2	1	4	4	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:47721085C>G	ENST00000525123.1	-	8	892	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.E165Q|AGBL2_ENST00000357610.3_Missense_Mutation_p.E203Q|AGBL2_ENST00000298861.4_Missense_Mutation_p.E203Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	203					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TAGAAATATTCTGGTTGAGGT	0.313													5	64					0	0	0	0	G	47721085	C	G	47721085	3	3	433	1	0	0	0	0	1	0	0	0	376	922	32	2	2149	2	AGBL2	11	47721085	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	424827	47721085	87285431	114	85502											
OR5A2	219981	broad.mit.edu	37	chr11	59189489	59189489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgaatggtccaccgtgaGaaatcccggggtccctttcc	10	9	10	12	2	0	2	0	2	0	1	4	3	4	2	5	3	0	0	5	3	3	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:59189489G>C	ENST00000302040.4	-	1	960	c.938C>G	c.(937-939)tCt>tGt	p.S313C		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCCACCGTGAGAAATCCCGGG	0.418													29	108					0	0	0	0	C	59189489	G	C	59189489	3	2	433	1	0	0	0	0	1	0	0	0	11211	942	33	2	38	2	OR5A2	11	59189489	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	11468404	59189489	75817027	115	85503											
GPR137	56834	broad.mit.edu	37	chr11	64054480	64054480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtcggccggagatgagccGaggcttgtaagtactcggga	8	7	17	9	5	0	2	0	1	0	1	2	5	0	3	2	4	2	3	2	4	2	3	rs138261831	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:64054480G>A	ENST00000539851.1	+	3	868	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	GPR137_ENST00000411458.1_Missense_Mutation_p.R192Q|GPR137_ENST00000438980.2_Missense_Mutation_p.R134Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R134Q|GPR137_ENST00000313074.3_Missense_Mutation_p.R134Q	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	134						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GAGATGAGCCGAGGCTTGTAA	0.612													4	26					0	0	0	0	A	64054480	G	A	64054480	3	1	433	1	0	0	0	0	1	0	0	0	6694	1058	37	1	589	1	GPR137	11	64054480	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	4864991	64054480	70952036	116	85504											
MEN1	4221	broad.mit.edu	37	chr11	64575070	64575070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtcggtgtgcaggtcaatgGaagggttgatggcacacacc	10	8	15	8	1	1	1	1	1	0	0	2	2	1	2	1	5	1	3	1	5	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:64575070G>A	ENST00000337652.1	-	4	1255	c.752C>T	c.(751-753)tCc>tTc	p.S251F	MEN1_ENST00000312049.6_Missense_Mutation_p.S246F|MEN1_ENST00000443283.1_Missense_Mutation_p.S251F|MEN1_ENST00000394374.2_Missense_Mutation_p.S251F|MEN1_ENST00000377313.1_Missense_Mutation_p.S251F|MEN1_ENST00000377316.2_Missense_Mutation_p.S246F|MEN1_ENST00000315422.4_Missense_Mutation_p.S246F|MEN1_ENST00000377321.1_Missense_Mutation_p.S211F|MEN1_ENST00000394376.1_Missense_Mutation_p.S251F|MEN1_ENST00000377326.3_Missense_Mutation_p.S246F	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	251	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A242_I247del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CAGGTCAATGGAAGGGTTGAT	0.577			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				26	78					0	0	0	0	A	64575070	G	A	64575070	3	1	433	1	0	0	0	0	1	0	0	0	9541	1174	41	2	1123	2	MEN1	11	64575070	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	520590	64575070	70431446	117	85505											
B3GNT1	11041	broad.mit.edu	37	chr11	66114296	66114296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgatccagcatttcccGcaggcctctccacagcccct	6	9	7	19	1	2	1	0	1	2	0	5	1	4	1	6	1	2	3	6	1	0	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:66114296G>A	ENST00000311181.4	-	1	867	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	241					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						AGCATTTCCCGCAGGCCTCTC	0.612													5	143					0	0	0	0	A	66114296	G	A	66114296	3	1	433	1	0	0	0	0	1	0	0	0	1260	1086	38	1	534	1	B3GNT1	11	66114296	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	1539226	66114296	68892220	118	85506											
SIK2	23235	broad.mit.edu	37	chr11	111590619	111590619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagacagaaggagaggccGaggaagaccccgctcatgcc	12	3	15	11	2	1	4	1	0	0	4	1	8	1	5	4	4	1	1	4	4	2	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111590619G>A	ENST00000304987.3	+	10	1560	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	463					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGGAGAGGCCGAGGAAGACCC	0.592													6	52					0	0	0	0	A	111590619	G	A	111590619	3	1	433	1	0	0	0	0	1	0	0	0	14406	1059	37	1	1425	1	SIK2	11	111590619	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	45476323	111590619	23415897	119	85507											
PPP2R1B	5519	broad.mit.edu	37	chr11	111624280	111624280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagccgatttgacatgttGattggtatcggatactaatt	11	15	10	5	2	0	3	0	2	0	1	1	5	0	4	1	2	2	2	1	2	4	8			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111624280G>C	ENST00000527614.1	-	9	1116	c.1051C>G	c.(1051-1053)Caa>Gaa	p.Q351E	PPP2R1B_ENST00000426998.2_Missense_Mutation_p.Q287E|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.Q351E|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.Q190E|PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.Q224E	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	351							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTGACATGTTGATTGGTATCG	0.338													8	28					0	0	0	0	C	111624280	G	C	111624280	3	2	433	1	0	0	0	0	1	0	0	0	12459	1299	45	2	1005	2	PPP2R1B	11	111624280	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	33661	111624280	23382236	120	85508											
PIH1D2	120379	broad.mit.edu	37	chr11	111942456	111942456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtccactgacacaggttGataaaaagtattttttcttt	11	17	6	7	0	1	2	0	2	1	0	2	2	2	2	1	1	0	2	1	1	4	8			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111942456G>C	ENST00000530641.1	-	3	529	c.204C>G	c.(202-204)atC>atG	p.I68M	PIH1D2_ENST00000431456.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000280350.4_Missense_Mutation_p.I68M|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I68M			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	68										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GACACAGGTTGATAAAAAGTA	0.418													13	31					0	0	0	0	C	111942456	G	C	111942456	3	2	433	1	0	0	0	0	1	0	0	0	11979	1280	45	2	817	2	PIH1D2	11	111942456	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	318176	111942456	23064060	121	85509											
HYOU1	10525	broad.mit.edu	37	chr11	118925334	118925334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagcacagctcggcgctCggcctggttgaagaagactg	8	7	14	12	3	0	3	0	1	0	2	2	3	0	3	1	3	3	5	1	3	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:118925334C>T	ENST00000404233.3	-	7	674	c.550G>A	c.(550-552)Gag>Aag	p.E184K	HYOU1_ENST00000529972.1_Missense_Mutation_p.E184K|HYOU1_ENST00000525859.1_Missense_Mutation_p.E184K|HYOU1_ENST00000543287.1_Missense_Mutation_p.E97K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	184						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCTCGGCGCTCGGCCTGGTTG	0.572													10	75					0	0	0	0	T	118925334	C	T	118925334	3	4	433	1	0	0	0	0	1	0	0	0	7523	893	31	1	2529	1	HYOU1	11	118925334	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	6982878	118925334	16081182	122	85510											
VPS11	55823	broad.mit.edu	37	chr11	118942470	118942470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaacgtgggccctgcttCgcctttgagggccataagct	7	10	13	11	2	0	2	0	2	0	0	1	3	0	2	3	2	3	2	3	2	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:118942470C>T	ENST00000300793.6	+	6	840	c.798C>T	c.(796-798)ttC>ttT	p.F266F	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	267					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGCCCTGCTTCGCCTTTGAGG	0.542													13	91					0	0	0	0	T	118942470	C	T	118942470	2	4	433	1	0	0	0	0	0	0	0	1	17284	883	31	1		1	VPS11	11	118942470	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	17136	118942470	16064046	123	85511											
OR8D4	338662	broad.mit.edu	37	chr11	123777563	123777563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgtcccctagggtctgttCtctgctggtggctgctgtct	2	15	12	12	0	3	0	0	0	3	0	5	0	4	0	2	3	2	4	2	3	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:123777563C>G	ENST00000321355.2	+	1	455	c.425C>G	c.(424-426)tCt>tGt	p.S142C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AGGGTCTGTTCTCTGCTGGTG	0.502													21	140					0	0	0	0	G	123777563	C	G	123777563	3	3	433	1	0	0	0	0	1	0	0	0	11304	913	32	2	427	2	OR8D4	11	123777563	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	4835093	123777563	11228953	124	85512											
SLC6A12	6539	broad.mit.edu	37	chr12	319191	319191	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccccgctgggtgggcaGgatgacgagggccaaagcct	9	4	17	11	2	0	1	0	1	0	0	0	4	0	2	4	4	2	2	4	4	2	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:319191G>T	ENST00000428720.1	-	0	705				SLC6A12_ENST00000397296.2_De_novo_Start_InFrame|SLC6A12_ENST00000424061.2_De_novo_Start_InFrame|SLC6A12_ENST00000536824.1_De_novo_Start_InFrame|SLC6A12_ENST00000359674.4_De_novo_Start_InFrame	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12						cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGGTGGGCAGGATGACGAGG	0.622													11	25					3.86212e-05	3.9923e-05	1	0	T	319191	G	T	319191	1	4	433	1	0	0	0	0	0	0	0	0	14763	1015	35	4		4	SLC6A12	12	319191	Translation_Start_Site	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		319191	133532704	125	85513											
CACNA1C	775	broad.mit.edu	37	chr12	2602398	2602398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccccttgtgcgctggaaaCgggccacgggcggcagtgcc	5	7	15	14	4	0	0	0	0	0	0	1	1	1	1	4	4	3	2	4	4	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:2602398C>T	ENST00000399655.1	+	7	1224	c.959C>T	c.(958-960)aCg>aTg	p.T320M	CACNA1C_ENST00000399601.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T320M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T320M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T320M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T320M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	320					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGCTGGAAACGGGCCACGGG	0.602													28	75					0	0	0	0	T	2602398	C	T	2602398	3	4	433	1	0	0	0	0	1	0	0	0	2565	536	19	1	985	1	CACNA1C	12	2602398	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	2283207	2602398	131249497	126	85514											
EMG1	10436	broad.mit.edu	37	chr12	7084836	7084836	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgagtgacagagttggctGacaaaactgttcttttctta	11	14	9	7	0	2	4	0	3	2	1	2	4	2	4	0	1	1	3	0	1	3	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:7084836G>A	ENST00000546220.1	+	0	651				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										AGAGTTGGCTGACAAAACTGT	0.448													32	47					0	0	0	0	A	7084836	G	A	7084836	1	1	433	0	1	0	0	0	0	0	0	0	5128	1305	45	2		2	EMG1	12	7084836	RNA	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	4482438	7084836	126767059	127	85515											
KRT80	144501	broad.mit.edu	37	chr12	52565209	52565209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacctccgactcctgcgaGaagtacttctctgacatttc	9	11	8	13	2	1	3	0	1	1	2	5	6	3	3	3	0	2	1	3	0	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:52565209G>A	ENST00000394815.2	-	9	1429	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	444	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ACTCCTGCGAGAAGTACTTCT	0.572													27	70					0	0	0	0	A	52565209	G	A	52565209	2	1	433	1	0	0	0	0	0	0	0	1	8546	933	33	2		2	KRT80	12	52565209	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	45480373	52565209	81286686	128	85516											
KIAA1033	23325	broad.mit.edu	37	chr12	105505022	105505022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatgtttgggatttcaatCttgatcctatagcattaaag	12	15	9	5	0	2	2	1	1	1	1	3	4	3	3	1	1	1	2	1	1	5	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:105505022C>T	ENST00000332180.5	+	2	268	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	61					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGATTTCAATCTTGATCCTAT	0.299													4	43					0	0	0	0	T	105505022	C	T	105505022	3	4	433	1	0	0	0	0	1	0	0	0	8257	913	32	2	187	2	KIAA1033	12	105505022	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	52939813	105505022	28346873	129	85517											
CKAP4	10970	broad.mit.edu	37	chr12	106633325	106633325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaggctctcggtctggCgcgcagaagccacctgcatg	7	7	12	15	3	2	1	0	0	2	1	4	1	3	1	3	3	2	3	3	3	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:106633325C>G	ENST00000378026.4	-	2	1422	c.1286G>C	c.(1285-1287)cGc>cCc	p.R429P		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	429						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTCGGTCTGGCGCGCAGAAGC	0.662													7	105					0	0	0	0	G	106633325	C	G	106633325	3	3	433	1	0	0	0	0	1	0	0	0	3474	768	27	3	526	3	CKAP4	12	106633325	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	1128303	106633325	27218570	130	85518											
TMEM132D	121256	broad.mit.edu	37	chr12	130185208	130185208	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcagcaaggaaaaccTctggatgctctcaaggatcc	11	7	13	10	0	2	0	1	0	2	0	4	3	3	3	2	5	3	3	2	5	4	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:130185208T>G	ENST00000422113.2	-	2	441	c.115A>C	c.(115-117)Agg>Cgg	p.R39R		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	39						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGAAAACCTCTGGATGCTC	0.542													9	44					0	0	0	0	G	130185208	T	G	130185208	2	3	433	1	0	0	0	0	0	0	0	1	16141	1550	54	5		5	TMEM132D	12	130185208	Silent	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08	23551883	130185208	3666687	131	85519											
UTP14C	9724	broad.mit.edu	37	chr13	52603415	52603415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcagagcagctggtttttCccctggggaaggagcagcca	9	7	15	10	0	0	1	0	0	0	1	1	3	1	3	3	5	4	5	3	5	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr13:52603415C>A	ENST00000521776.2	+	2	1208	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	159					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCTGGTTTTTCCCCTGGGGAA	0.522													18	73					1.02788e-11	1.11253e-11	1	0	A	52603415	C	A	52603415	3	1	433	1	0	0	0	0	1	0	0	0	17192	855	30	2	477	2	UTP14C	13	52603415	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		52603415	62566463	132	85520											
POTEG	404785	broad.mit.edu	37	chr14	19553701	19553701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgctatgaagacactcagGagcaagatgggcaagtggtg	12	8	14	7	0	2	3	1	1	1	2	2	4	2	4	0	3	2	3	0	3	4	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:19553701G>T	ENST00000409832.3	+	1	337	c.285G>T	c.(283-285)agG>agT	p.R95S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	95										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACACTCAGGAGCAAGATGG	0.617													77	922					3.40343e-31	3.75738e-31	1	0	T	19553701	G	T	19553701	3	4	433	1	0	0	0	0	1	0	0	0	12338	1165	41	2	287	2	POTEG	14	19553701	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		19553701	87795839	133	85521											
PARP2	10038	broad.mit.edu	37	chr14	20824776	20824776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatggcatggttccaggatGagtaactgggtgggaatctt	9	12	14	6	0	1	1	0	1	1	0	2	3	2	3	1	5	1	3	1	5	3	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:20824776G>A	ENST00000527915.1	+	13	1301	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	PARP2_ENST00000250416.5_Missense_Mutation_p.M432I|PARP2_ENST00000429687.3_Missense_Mutation_p.M419I			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	432	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTTCCAGGATGAGTAACTGGG	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					33	308					0	0	0	0	A	20824776	G	A	20824776	3	1	433	1	0	0	0	0	1	0	0	0	11532	1290	45	2	1346	2	PARP2	14	20824776	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	1271075	20824776	86524764	134	85522											
EFS	10278	broad.mit.edu	37	chr14	23829039	23829039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttggagggggcagcataGatggggggccccggctcccg	6	5	20	10	2	0	1	0	0	0	1	1	2	1	2	3	8	1	4	3	8	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829039G>C	ENST00000216733.3	-	4	1255	c.648C>G	c.(646-648)atC>atG	p.I216M	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.I123M	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	216	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGCAGCATAGATGGGGGGCC	0.612													41	120					0	0	0	0	C	23829039	G	C	23829039	3	2	433	1	0	0	0	0	1	0	0	0	4995	932	33	2	1049	2	EFS	14	23829039	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	3004263	23829039	83520501	135	85523											
EFS	10278	broad.mit.edu	37	chr14	23829051	23829051	+	Silent	SNP	C	C	T																															gcagcatagatggggggcccCggctcccggcctccttccca																										TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829051C>T	ENST00000216733.3	-	4	1243	c.636G>A	c.(634-636)ccG>ccA	p.P212P	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Silent_p.P119P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	212	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TGGGGGGCCCCGGCTCCCGGC	0.617													7	140					0	0	0	0	T	23829051	C	T	23829051	2	4	433	1	0	0	0	0	0	0	0	1	4995	639	23	1		1	EFS	14	23829051	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	12	23829051	83520489	136	85524	1072	2									
EFS	10278	broad.mit.edu	37	chr14	23829056	23829056	+	Missense_Mutation	SNP	C	C	T																															atagatggggggccccggctCccggcctccttcccactcca																										TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829056C>T	ENST00000216733.3	-	4	1238	c.631G>A	c.(631-633)Gag>Aag	p.E211K	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.E118K	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	211	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCCCCGGCTCCCGGCCTCCT	0.617													38	114					0	0	0	0	T	23829056	C	T	23829056	3	4	433	1	0	0	0	0	1	0	0	0	4995	864	30	2	1066	2	EFS	14	23829056	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	5	23829056	83520484	137	85525	1072	2									
NIN	51199	broad.mit.edu	37	chr14	51237162	51237162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttctgtttttgccttttCaatttcctgttcaagttcta	5	22	4	10	0	5	0	2	0	3	0	6	0	6	0	2	0	1	3	2	0	3	9			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51237162C>G	ENST00000245441.5	-	12	1568	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q	NIN_ENST00000324330.9_Missense_Mutation_p.E460Q|NIN_ENST00000530997.2_Missense_Mutation_p.E460Q|NIN_ENST00000453196.1_Missense_Mutation_p.E460Q|NIN_ENST00000389868.3_Missense_Mutation_p.E460Q|NIN_ENST00000382041.3_Missense_Mutation_p.E460Q|NIN_ENST00000382043.4_Missense_Mutation_p.E460Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	460					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTTGCCTTTTCAATTTCCTGT	0.468			T	PDGFRB	MPD								17	56					0	0	0	0	G	51237162	C	G	51237162	3	3	433	1	0	0	0	0	1	0	0	0	10487	835	29	2	5251	2	NIN	14	51237162	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	27408106	51237162	56112378	138	85526											
PYGL	5836	broad.mit.edu	37	chr14	51381517	51381517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacttgtcaggttctagctCactgaagtccttgaatctgg	10	13	9	9	0	4	2	2	2	2	0	5	2	5	2	1	2	2	2	1	2	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51381517C>T	ENST00000216392.7	-	12	1752	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PYGL_ENST00000532462.1_Missense_Mutation_p.E474K|PYGL_ENST00000544180.2_Missense_Mutation_p.E440K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	474					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTTCTAGCTCACTGAAGTCC	0.483													24	60					0	0	0	0	T	51381517	C	T	51381517	3	4	433	1	0	0	0	0	1	0	0	0	12943	835	29	2	1159	2	PYGL	14	51381517	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	144355	51381517	55968023	139	85527			1	130		3	3	1153	C		3.544847e-05
PYGL	5836	broad.mit.edu	37	chr14	51382160	51382160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttgcttccttcctcttCtatcagagacatccttctca	6	17	3	15	0	4	1	2	0	3	1	8	2	7	1	4	0	1	1	4	0	1	7			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51382160C>T	ENST00000216392.7	-	11	1629	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	PYGL_ENST00000532462.1_Missense_Mutation_p.E433K|PYGL_ENST00000544180.2_Missense_Mutation_p.E399K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	433					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCTTCCTCTTCTATCAGAGAC	0.478													49	92					0	0	0	0	T	51382160	C	T	51382160	3	4	433	1	0	0	0	0	1	0	0	0	12943	922	32	2	1286	2	PYGL	14	51382160	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	643	51382160	55967380	140	85528			1	130		3	3	1153	C		3.544847e-05
PYGL	5836	broad.mit.edu	37	chr14	51382669	51382669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttggtgtaggcgaaggtCttctgggtgagctcccatgc	5	12	16	8	1	2	1	0	1	2	0	3	2	3	1	1	5	2	3	1	5	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51382669C>T	ENST00000216392.7	-	10	1445	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	PYGL_ENST00000532462.1_Silent_p.K371K|PYGL_ENST00000544180.2_Silent_p.K337K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	371					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGGCGAAGGTCTTCTGGGTGA	0.607													25	62					0	0	0	0	T	51382669	C	T	51382669	2	4	433	1	0	0	0	0	0	0	0	1	12943	912	32	2		2	PYGL	14	51382669	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	509	51382669	55966871	141	85529			1	130		3	3	1153	C		3.544847e-05
ACTN1	87	broad.mit.edu	37	chr14	69350896	69350896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggctcacctggatctcctCaatggtgtgcacaatgaagg	9	9	13	10	0	3	1	2	1	1	0	4	2	3	2	2	5	1	2	2	5	3	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:69350896C>G	ENST00000193403.6	-	14	2007	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	ACTN1_ENST00000438964.2_Missense_Mutation_p.E542Q|ACTN1_ENST00000376839.3_Missense_Mutation_p.E477Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.E542Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.E542Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	542	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGGATCTCCTCAATGGTGTGC	0.627													14	45					0	0	0	0	G	69350896	C	G	69350896	3	3	433	1	0	0	0	0	1	0	0	0	204	835	29	2	1156	2	ACTN1	14	69350896	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	17968227	69350896	37998644	142	85530											
RBM25	58517	broad.mit.edu	37	chr14	73572952	73572952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagaaaacccgggaatatGagaaagaagctgaaagagaa	22	3	12	4	1	0	5	0	2	0	4	0	9	0	6	1	1	2	1	1	1	9	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:73572952G>C	ENST00000261973.7	+	12	1711	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	RBM25_ENST00000527432.1_Missense_Mutation_p.E476Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	476	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CCGGGAATATGAGAAAGAAGC	0.299													5	40					0	0	0	0	C	73572952	G	C	73572952	3	2	433	1	0	0	0	0	1	0	0	0	13207	1291	45	2	1468	2	RBM25	14	73572952	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	4222056	73572952	33776588	143	85531											
ESRRB	2103	broad.mit.edu	37	chr14	76905771	76905771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccgtccagcccgtcctcGggcatcgatgccctcagcca	6	6	11	18	4	1	0	1	0	0	0	5	2	3	0	6	1	4	1	6	1	0	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:76905771G>A	ENST00000380887.2	+	2	147	c.75G>A	c.(73-75)tcG>tcA	p.S25S	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Silent_p.S25S|ESRRB_ENST00000556177.1_Silent_p.S25S|ESRRB_ENST00000261532.7_Silent_p.S25S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	25						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCCCGTCCTCGGGCATCGATG	0.672													4	137					0	0	0	0	A	76905771	G	A	76905771	2	1	433	1	0	0	0	0	0	0	0	1	5299	1103	39	1		1	ESRRB	14	76905771	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	3332819	76905771	30443769	144	85532											
C14orf166B	145497	broad.mit.edu	37	chr14	77294657	77294657	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattgaaattgagccagtaCgacagagcagcgataaaatg	17	7	11	6	2	0	4	0	2	0	2	0	6	0	4	1	0	4	2	1	0	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:77294657C>T	ENST00000393774.3	+	2	236	c.112C>T	c.(112-114)Cga>Tga	p.R38*	C14orf166B_ENST00000450042.2_Nonsense_Mutation_p.R21*|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	38										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TGAGCCAGTACGACAGAGCAG	0.502													21	51					0	0	0	0	T	77294657	C	T	77294657	4	4	433	1	0	0	0	0	0	1	0	0	1769	528	19	1	118	1	C14orf166B	14	77294657	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	388886	77294657	30054883	145	85533											
SERPINA1	5265	broad.mit.edu	37	chr14	94847215	94847215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggggaatcaccttctgtCttcattttccaggaacttgg	7	15	10	9	0	4	0	2	0	2	0	5	2	5	2	2	4	1	1	2	4	2	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:94847215C>T	ENST00000448921.1	-	5	1482	c.910G>A	c.(910-912)Gac>Aac	p.D304N	SERPINA1_ENST00000404814.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.D304N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.D304N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	304					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CACCTTCTGTCTTCATTTTCC	0.537													46	90					0	0	0	0	T	94847215	C	T	94847215	3	4	433	1	0	0	0	0	1	0	0	0	14173	913	32	2	358	2	SERPINA1	14	94847215	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	17552558	94847215	12502325	146	85534											
UBR1	197131	broad.mit.edu	37	chr15	43350596	43350596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctccataaaaaaactgctGaagatcaattcatgaaggat	18	10	6	7	0	3	3	2	2	1	1	4	4	3	4	1	1	2	1	1	1	7	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:43350596G>A	ENST00000290650.4	-	10	1203	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	UBR1_ENST00000382177.2_Silent_p.F375F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	375					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAAACTGCTGAAGATCAATT	0.348													6	53					0	0	0	0	A	43350596	G	A	43350596	2	1	433	1	0	0	0	0	0	0	0	1	16997	1281	45	2		2	UBR1	15	43350596	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		43350596	59180796	147	85535											
ZSCAN29	146050	broad.mit.edu	37	chr15	43653870	43653870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagcttttgctgtatttgaGatatttatagggtctctctc	9	18	8	6	0	2	1	0	1	2	1	4	2	2	1	0	1	2	3	0	1	5	8			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:43653870G>C	ENST00000396976.2	-	5	2094	c.1960C>G	c.(1960-1962)Ctc>Gtc	p.L654V	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.L264V|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.L265V	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	654					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGTATTTGAGATATTTATAG	0.443													18	97					0	0	0	0	C	43653870	G	C	43653870	3	2	433	1	0	0	0	0	1	0	0	0	18327	942	33	2	602	2	ZSCAN29	15	43653870	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	303274	43653870	58877522	148	85536											
UBL7	84993	broad.mit.edu	37	chr15	74748953	74748953	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggacagtggacccaggttGaatgccatagaagtcaagtg	13	8	13	7	0	1	2	1	1	0	1	1	4	1	4	2	3	1	1	2	3	4	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:74748953G>A	ENST00000567435.1	-	3	707	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	UBL7_ENST00000564488.1_Nonsense_Mutation_p.Q82*|UBL7_ENST00000361351.4_Nonsense_Mutation_p.Q82*|UBL7_ENST00000565335.1_Nonsense_Mutation_p.Q82*|UBL7_ENST00000395081.2_Nonsense_Mutation_p.Q82*			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	82	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GACCCAGGTTGAATGCCATAG	0.473													29	75					0	0	0	0	A	74748953	G	A	74748953	4	1	433	1	0	0	0	0	0	1	0	0	16986	1299	45	2	934	2	UBL7	15	74748953	Nonsense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	31095083	74748953	27782439	149	85537											
CYP1A2	1544	broad.mit.edu	37	chr15	75042739	75042739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagatgctcagcctcgtGaagaacactcatgagttcgt	11	10	11	9	2	2	4	2	3	0	2	4	6	2	4	1	0	3	2	1	0	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:75042739G>A	ENST00000343932.4	+	2	723	c.660G>A	c.(658-660)gtG>gtA	p.V220V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	220					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCAGCCTCGTGAAGAACACTC	0.567													60	160					0	0	0	0	A	75042739	G	A	75042739	2	1	433	1	0	0	0	0	0	0	0	1	4182	1277	45	2		2	CYP1A2	15	75042739	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	293786	75042739	27488653	150	85538											
SIN3A	25942	broad.mit.edu	37	chr15	75705314	75705314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggggcaagaaggtgttGaatcccattatcagatcggg	11	8	14	8	1	1	3	1	1	0	2	3	3	2	3	2	4	0	2	2	4	4	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:75705314G>C	ENST00000394947.3	-	5	860	c.546C>G	c.(544-546)ttC>ttG	p.F182L	SIN3A_ENST00000394949.4_Missense_Mutation_p.F182L|SIN3A_ENST00000360439.4_Missense_Mutation_p.F182L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	182	Interaction with HCFC1.|PAH 1.			FNTFLPPGYKI -> IQHLFAPWATKM (in Ref. 4; AAK95854).	blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGAAGGTGTTGAATCCCATTA	0.468													12	64					0	0	0	0	C	75705314	G	C	75705314	3	2	433	1	0	0	0	0	1	0	0	0	14413	1281	45	2	3343	2	SIN3A	15	75705314	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	662575	75705314	26826078	151	85539											
RASGRF1	5923	broad.mit.edu	37	chr15	79291063	79291063	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagggctcccacccacctGagagtgcttggacacccagt	8	6	13	14	0	0	1	0	1	0	1	1	4	1	3	4	3	1	2	4	3	0	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:79291063G>A	ENST00000419573.3	-	19	3173	c.2899C>T	c.(2899-2901)Cag>Tag	p.Q967*	RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q183*|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q951*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	969					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCACCCACCTGAGAGTGCTTG	0.622													4	73					0	0	0	0	A	79291063	G	A	79291063	4	1	433	1	0	0	0	0	0	1	0	0	13154	1299	45	2	962	2	RASGRF1	15	79291063	Nonsense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	3585749	79291063	23240329	152	85540											
ZNF710	374655	broad.mit.edu	37	chr15	90610895	90610895	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgctccggcatctgcccCgaaccccgaggccggagctg	6	4	14	17	5	1	0	0	0	1	0	2	4	2	2	6	4	3	3	6	4	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:90610895C>T	ENST00000268154.4	+	2	777	c.526C>T	c.(526-528)Cga>Tga	p.R176*		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	176	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCATCTGCCCCGAACCCCGAG	0.721													3	37					0	0	0	0	T	90610895	C	T	90610895	4	4	433	1	0	0	0	0	0	1	0	0	18210	644	23	1	528	1	ZNF710	15	90610895	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	11319832	90610895	11920497	153	85541											
GP2	2813	broad.mit.edu	37	chr16	20337672	20337672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacttacctcgctgcactgCagatgcctgggtcagaatgc	9	10	10	12	1	1	2	1	0	0	2	2	2	1	2	2	1	6	3	2	1	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:20337672C>T	ENST00000302555.5	-	2	231	c.82G>A	c.(82-84)Gca>Aca	p.A28T	GP2_ENST00000341642.5_Missense_Mutation_p.A28T|GP2_ENST00000381362.4_Missense_Mutation_p.A28T|GP2_ENST00000381360.5_Missense_Mutation_p.A28T			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	28						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGCTGCACTGCAGATGCCTGG	0.537													5	40					0	0	0	0	T	20337672	C	T	20337672	3	4	433	1	0	0	0	0	1	0	0	0	6631	710	25	4	1575	4	GP2	16	20337672	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		20337672	70017081	154	85542											
DNAH3	55567	broad.mit.edu	37	chr16	21133286	21133286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggggatcccattagagtTcttaataatttccaggaaag	12	13	9	7	0	1	1	0	0	1	1	3	3	3	3	2	3	0	1	2	3	4	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:21133286T>G	ENST00000261383.3	-	10	1563	c.1564A>C	c.(1564-1566)Aac>Cac	p.N522H	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.N522H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	522	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCATTAGAGTTCTTAATAATT	0.348													13	50					0	0	0	0	G	21133286	T	G	21133286	3	3	433	1	0	0	0	0	1	0	0	0	4640	1783	62	5	10997	5	DNAH3	16	21133286	Missense_Mutation	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08	795614	21133286	69221467	155	85543											
SETD6	79918	broad.mit.edu	37	chr16	58552696	58552696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagggggagatgataaaagGgaagagggcagcctgacgat	14	4	19	4	1	0	4	0	2	0	2	0	8	0	6	1	5	1	1	1	5	3	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:58552696G>T	ENST00000394266.4	+	9	1034	c.978G>T	c.(976-978)agG>agT	p.R326S	SETD6_ENST00000219315.4_Missense_Mutation_p.R395S|SETD6_ENST00000310682.2_Missense_Mutation_p.R371S			Q8TBK2	SETD6_HUMAN	SET domain containing 6	395					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						ATGATAAAAGGGAAGAGGGCA	0.473													18	51					3.41278e-10	3.65088e-10	1	0	T	58552696	G	T	58552696	3	4	433	1	0	0	0	0	1	0	0	0	14222	1223	43	4	1215	4	SETD6	16	58552696	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	37419410	58552696	31802057	156	85544											
CDH3	1001	broad.mit.edu	37	chr16	68732246	68732246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacgattatctgaacgaGtggggcagccgcttcaagaa	12	9	12	8	3	2	2	1	1	1	1	2	5	2	2	1	2	3	2	1	2	5	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:68732246G>C	ENST00000264012.4	+	16	2977	c.2433G>C	c.(2431-2433)gaG>gaC	p.E811D	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.E756D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	811					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ATCTGAACGAGTGGGGCAGCC	0.632													26	201					0	0	0	0	C	68732246	G	C	68732246	3	2	433	1	0	0	0	0	1	0	0	0	3140	1020	36	4	2495	4	CDH3	16	68732246	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	10179550	68732246	21622507	157	85545											
COG8	84342	broad.mit.edu	37	chr16	69370550	69370550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaaatttctgtgtgcCggtttagggtcaggctattc	7	16	10	8	1	2	0	1	0	1	0	4	0	3	0	2	3	1	2	2	3	4	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:69370550C>T	ENST00000306875.4	-	2	557	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.R23Q|COG8_ENST00000562081.1_Missense_Mutation_p.R148Q	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	148					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TTCTGTGTGCCGGTTTAGGGT	0.478													4	78					0	0	0	0	T	69370550	C	T	69370550	3	4	433	1	0	0	0	0	1	0	0	0	3694	652	23	1	1411	1	COG8	16	69370550	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	638304	69370550	20984203	158	85546											
GAN	8139	broad.mit.edu	37	chr16	81348778	81348778	+	Silent	SNP	C	C	T																															gcgcgtctgctgcgagcgctCagctctttccgcgaggagtc																										TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81348778C>T	ENST00000248272.3	+	1	222	c.60C>T	c.(58-60)ctC>ctT	p.L20L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	20					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGCGAGCGCTCAGCTCTTTCC	0.706													5	15					0	0	0	0	T	81348778	C	T	81348778	2	4	433	1	0	0	0	0	0	0	0	1	6281	813	29	2		2	GAN	16	81348778	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	11978228	81348778	9005975	159	85547	1073	2									
GAN	8139	broad.mit.edu	37	chr16	81348783	81348783	+	Missense_Mutation	SNP	C	C	G																															tctgctgcgagcgctcagctCtttccgcgaggagtctcgct																										TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81348783C>G	ENST00000248272.3	+	1	227	c.65C>G	c.(64-66)tCt>tGt	p.S22C		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	22					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCGCTCAGCTCTTTCCGCGAG	0.701													5	14					0	0	0	0	G	81348783	C	G	81348783	3	3	433	1	0	0	0	0	1	0	0	0	6281	913	32	2	67	2	GAN	16	81348783	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	5	81348783	9005970	160	85548	1073	2									
GAN	8139	broad.mit.edu	37	chr16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacggaaacccacagcagCgatgcgatgcatgtgccctc	10	7	10	14	3	1	0	1	0	0	0	2	3	1	1	2	1	6	2	2	1	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81391435C>T	ENST00000248272.3	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	291					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433													4	160					0	0	0	0	T	81391435	C	T	81391435	3	4	433	1	0	0	0	0	1	0	0	0	6281	768	27	1	890	1	GAN	16	81391435	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	42652	81391435	8963318	161	85549											
DERL2	51009	broad.mit.edu	37	chr17	5383811	5383811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccgaagaagttcatgCggacataggggttccttcgg	10	8	15	8	3	1	1	1	0	0	1	3	4	2	2	2	5	1	2	2	5	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:5383811C>T	ENST00000158771.4	-	5	474	c.419G>A	c.(418-420)cGc>cAc	p.R140H	DERL2_ENST00000570848.1_Intron|DERL2_ENST00000572834.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	140					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						GAAGTTCATGCGGACATAGGG	0.493													5	183					0	0	0	0	T	5383811	C	T	5383811	3	4	433	1	0	0	0	0	1	0	0	0	4484	768	27	1	312	1	DERL2	17	5383811	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08		5383811	75811399	162	85550											
TP53	7157	broad.mit.edu	37	chr17	7573010	7573010	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttggacttcaggtggcTgtaggagacagaagcaggga	10	10	15	6	0	1	2	1	0	0	2	1	5	1	4	0	5	1	3	0	5	2	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7573010T>A	ENST00000420246.2	-	12	1366		c.e12-2		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(3)		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)		TTCAGGTGGCTGTAGGAGACA	0.507		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)			54	59					0	0	0	0	A	7573010	T	A	7573010	5	1	433	1	0	0	0	0	0	0	1	0	16476	1594	55	5	86	5	TP53	17	7573010	Splice_Site	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08	2189199	7573010	73622200	163	85551											
DNAH2	146754	broad.mit.edu	37	chr17	7710627	7710627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctctgcatgtgggtgcGggccatggaggtaaaggcgt	6	9	17	9	2	1	0	0	0	1	0	2	1	2	1	2	5	2	2	2	5	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7710627G>A	ENST00000572933.1	+	62	11062	c.9602G>A	c.(9601-9603)cGg>cAg	p.R3201Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3201Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3201	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGTGGGTGCGGGCCATGGAG	0.657													4	156					0	0	0	0	A	7710627	G	A	7710627	3	1	433	1	0	0	0	0	1	0	0	0	4639	1116	39	1	9844	1	DNAH2	17	7710627	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	137617	7710627	73484583	164	85552											
CNTROB	116840	broad.mit.edu	37	chr17	7842900	7842900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgctgtgtcctgcaggaaGagcgggatgcagctcgggct	6	8	18	9	2	0	1	0	0	0	1	2	3	1	3	1	4	5	5	1	4	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7842900G>C	ENST00000380262.3	+	8	1922	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	CNTROB_ENST00000380255.3_Missense_Mutation_p.E333Q|CNTROB_ENST00000565740.1_Missense_Mutation_p.E333Q|CNTROB_ENST00000563694.1_Missense_Mutation_p.E333Q	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	333					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCTGCAGGAAGAGCGGGATGC	0.582													42	104					0	0	0	0	C	7842900	G	C	7842900	3	2	433	1	0	0	0	0	1	0	0	0	3681	943	33	2	1027	2	CNTROB	17	7842900	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	132273	7842900	73352310	165	85553											
CNTROB	116840	broad.mit.edu	37	chr17	7843416	7843416	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatttgtctttcataggaGaagagccagagggaagccca	12	10	12	7	0	2	4	1	1	1	3	2	6	2	5	2	2	2	0	2	2	3	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7843416G>A	ENST00000380262.3	+	9	2092	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	CNTROB_ENST00000380255.3_Silent_p.E389E|CNTROB_ENST00000565740.1_Silent_p.E389E|CNTROB_ENST00000563694.1_Silent_p.E389E	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	389	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TTTCATAGGAGAAGAGCCAGA	0.517													27	113					0	0	0	0	A	7843416	G	A	7843416	2	1	433	1	0	0	0	0	0	0	0	1	3681	933	33	2		2	CNTROB	17	7843416	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	516	7843416	73351794	166	85554											
GLP2R	9340	broad.mit.edu	37	chr17	9774114	9774114	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcttctcatttctaagctCaaagctcatcaaatgtgctt	12	14	5	10	0	5	0	4	0	2	0	6	0	5	0	0	0	4	4	0	0	4	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:9774114C>T	ENST00000262441.5	+	10	1620	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	GLP2R_ENST00000574745.1_Silent_p.L189L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	369					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTCTAAGCTCAAAGCTCATC	0.398													9	187					0	0	0	0	T	9774114	C	T	9774114	2	4	433	1	0	0	0	0	0	0	0	1	6504	813	29	2		2	GLP2R	17	9774114	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	1930698	9774114	71421096	167	85555											
MYH1	4619	broad.mit.edu	37	chr17	10399804	10399804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcctatcaacctcagaCttgacttggttcaactcaag	11	14	5	11	0	4	2	4	1	0	1	5	2	5	2	2	1	2	1	2	1	4	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:10399804C>T	ENST00000226207.5	-	34	4813	c.4719G>A	c.(4717-4719)aaG>aaA	p.K1573K	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	1573						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAACCTCAGACTTGACTTGGT	0.433													30	94					0	0	0	0	T	10399804	C	T	10399804	2	4	433	1	0	0	0	0	0	0	0	1	10099	564	20	4		4	MYH1	17	10399804	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	625690	10399804	70795406	168	85556											
DNAH9	1770	broad.mit.edu	37	chr17	11536006	11536006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgatgatgcacctggcttgGagcatgcctttaaggtttgt	7	15	12	7	0	0	2	0	2	0	0	0	3	0	3	2	3	3	4	2	3	1	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:11536006G>C	ENST00000262442.3	+	8	1689	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E541Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	541	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTGGCTTGGAGCATGCCTT	0.463													8	111					0	0	0	0	C	11536006	G	C	11536006	3	2	433	1	0	0	0	0	1	0	0	0	4644	1175	41	2	1651	2	DNAH9	17	11536006	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	1136202	11536006	69659204	169	85557											
PIGL	9487	broad.mit.edu	37	chr17	16120651	16120651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggagcagggaggacggctGggagccgaaagccggaccct	9	2	19	11	4	0	0	0	0	0	0	0	6	0	5	3	6	3	2	3	6	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:16120651G>A	ENST00000225609.5	+	1	128	c.111G>A	c.(109-111)ctG>ctA	p.L37L	PIGL_ENST00000395844.3_Silent_p.L37L|PIGL_ENST00000581006.1_Silent_p.L37L|PIGL_ENST00000498772.2_Silent_p.L37L|PIGL_ENST00000463810.1_3'UTR	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	37					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGGACGGCTGGGAGCCGAAA	0.612													14	95					0	0	0	0	A	16120651	G	A	16120651	2	1	433	1	0	0	0	0	0	0	0	1	11963	1335	47	4		4	PIGL	17	16120651	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	4584645	16120651	65074559	170	85558											
ZNF624	57547	broad.mit.edu	37	chr17	16526543	16526543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacatttataaggtttctCtcctgtatgcattctgtggt	8	18	8	7	0	2	0	0	0	2	0	4	0	3	0	1	2	2	4	1	2	4	7			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:16526543C>G	ENST00000311331.7	-	6	1748	c.1657G>C	c.(1657-1659)Gag>Cag	p.E553Q		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAAGGTTTCTCTCCTGTATGC	0.368													13	78					0	0	0	0	G	16526543	C	G	16526543	3	3	433	1	0	0	0	0	1	0	0	0	18143	922	32	2	944	2	ZNF624	17	16526543	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	405892	16526543	64668667	171	85559											
TOM1L2	146691	broad.mit.edu	37	chr17	17754216	17754216	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgagtctcaccaggtcggtCctgagccacacctcaatgtc	8	9	9	15	2	2	1	2	1	1	0	7	2	3	1	4	2	1	0	4	2	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:17754216C>T	ENST00000581396.1	-	12	1275	c.1179G>A	c.(1177-1179)agG>agA	p.R393R	TOM1L2_ENST00000542206.1_Silent_p.R324R|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Silent_p.R419R|TOM1L2_ENST00000478943.1_Silent_p.R176R|TOM1L2_ENST00000318094.10_Silent_p.R398R|TOM1L2_ENST00000379504.3_Silent_p.R443R|TOM1L2_ENST00000395739.4_Silent_p.R398R	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	443					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CCAGGTCGGTCCTGAGCCACA	0.622													29	112					0	0	0	0	T	17754216	C	T	17754216	2	4	433	1	0	0	0	0	0	0	0	1	16447	854	30	2		2	TOM1L2	17	17754216	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	1227673	17754216	63440994	172	85560											
KRT24	192666	broad.mit.edu	37	chr17	38855809	38855809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttagtctcaccccagatCtggcagatctcctcctccag	8	11	6	16	0	3	2	1	0	3	2	7	2	5	2	5	1	0	1	5	1	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:38855809C>G	ENST00000264651.2	-	6	1304	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	416	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CACCCCAGATCTGGCAGATCT	0.572													57	140					0	0	0	0	G	38855809	C	G	38855809	3	3	433	1	0	0	0	0	1	0	0	0	8513	912	32	2	341	2	KRT24	17	38855809	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	21101593	38855809	42339401	173	85561											
PLEKHM1	9842	broad.mit.edu	37	chr17	43522835	43522835	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacacgtagaggttgctcaCctcttgctgagctccttcag	8	12	9	12	1	3	2	2	1	1	1	4	2	4	2	2	1	4	5	2	1	2	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:43522835C>A	ENST00000430334.3	-	9	2971		c.e9+1		PLEKHM1_ENST00000580404.1_Splice_Site|PLEKHM1_ENST00000421073.2_Splice_Site	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1						intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGGTTGCTCACCTCTTGCTGA	0.552													6	51					0.0381472	0.0384257	1	0	A	43522835	C	A	43522835	5	1	433	1	0	0	0	0	0	0	1	0	12152	521	18	4	348	4	PLEKHM1	17	43522835	Splice_Site	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	4667026	43522835	37672375	174	85562											
MARCH10	162333	broad.mit.edu	37	chr17	60814545	60814545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggctggatgcagctcactCtgggaaggagcactcgggtc	8	7	16	10	1	2	0	1	0	1	0	4	3	2	3	0	5	3	4	0	5	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:60814545C>G	ENST00000544856.2	-	7	1059	c.681G>C	c.(679-681)caG>caC	p.Q227H	MARCH10_ENST00000311269.5_Missense_Mutation_p.Q228H|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q266H|MARCH10_ENST00000456609.2_Missense_Mutation_p.Q228H|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	228							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCAGCTCACTCTGGGAAGGAG	0.532													25	192					0	0	0	0	G	60814545	C	G	60814545	3	3	433	1	0	0	0	0	1	0	0	0	9368	912	32	2	1766	2	MARCH10	17	60814545	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	17291710	60814545	20380665	175	85563											
NUP85	79902	broad.mit.edu	37	chr17	73221840	73221840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagagcagaaggaacttctGagtaattggtatcatttcct	12	14	9	6	0	2	3	1	1	1	2	3	4	3	4	1	2	2	3	1	2	5	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:73221840G>A	ENST00000447371.2	+	9	823	c.399G>A	c.(397-399)ctG>ctA	p.L133L	NUP85_ENST00000245544.4_Silent_p.L301L|NUP85_ENST00000541827.1_Silent_p.L255L|NUP85_ENST00000579324.1_Silent_p.L189L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579298.1_Silent_p.L256L			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	301					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGGAACTTCTGAGTAATTGGT	0.493													15	97					0	0	0	0	A	73221840	G	A	73221840	2	1	433	1	0	0	0	0	0	0	0	1	10841	1277	45	2		2	NUP85	17	73221840	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	12407295	73221840	7973370	176	85564											
TRIM65	201292	broad.mit.edu	37	chr17	73887344	73887344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgggccccgggactgaCgacagtgcttcacctgctgg	5	7	14	15	3	1	1	1	1	0	0	1	3	1	2	4	3	2	2	4	3	0	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:73887344C>T	ENST00000269383.3	-	6	1135	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	357	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGGACTGACGACAGTGCTT	0.627													5	73					0	0	0	0	T	73887344	C	T	73887344	3	4	433	1	0	0	0	0	1	0	0	0	16634	536	19	1	487	1	TRIM65	17	73887344	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	665504	73887344	7307866	177	85565											
RNF213	57674	broad.mit.edu	37	chr17	78321214	78321214	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacatctttgggccttctCagaaggtgccgggtggagag	9	9	15	8	1	2	3	1	0	2	3	3	4	2	3	2	4	2	0	2	4	2	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:78321214C>T	ENST00000582970.1	+	29	9222	c.9079C>T	c.(9079-9081)Cag>Tag	p.Q3027*	RNF213_ENST00000336301.6_Nonsense_Mutation_p.Q1100*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q3076*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			TGGGCCTTCTCAGAAGGTGCC	0.532													7	79					0	0	0	0	T	78321214	C	T	78321214	4	4	433	1	0	0	0	0	0	1	0	0	13562	827	29	2	9508	2	RNF213	17	78321214	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	4433870	78321214	2873996	178	85566											
COLEC12	81035	broad.mit.edu	37	chr18	346752	346752	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgacctgtgaatgagttGagctggctgttcatatcctc	8	14	10	9	0	2	4	1	4	1	0	4	4	3	4	2	1	1	4	2	1	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:346752G>T	ENST00000400256.3	-	5	1077	c.870C>A	c.(868-870)ctC>ctA	p.L290L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	290					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGAATGAGTTGAGCTGGCTGT	0.507													4	59					1.23904e-05	1.28562e-05	1	0	T	346752	G	T	346752	2	4	433	1	0	0	0	0	0	0	0	1	3742	1277	45	2		2	COLEC12	18	346752	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		346752	77730496	179	85567											
OSBPL1A	114876	broad.mit.edu	37	chr18	21758086	21758086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagtcattgtttaatcCttcagcatgaaatgcactga	13	13	8	7	0	2	3	2	3	0	0	3	4	3	3	1	0	2	3	1	0	3	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:21758086C>T	ENST00000319481.3	-	21	2190	c.1984G>A	c.(1984-1986)Gga>Aga	p.G662R	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.G149R|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.G280R	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	662					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTGTTTAATCCTTCAGCATGA	0.398													6	63					0	0	0	0	T	21758086	C	T	21758086	3	4	433	1	0	0	0	0	1	0	0	0	11348	690	24	4	900	4	OSBPL1A	18	21758086	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	21411334	21758086	56319162	180	85568											
DSC2	1824	broad.mit.edu	37	chr18	28662356	28662356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaactcgtaagatttccaCatcaactgtattttcttcca	12	15	4	10	1	2	1	1	0	1	1	5	1	4	1	2	0	2	3	2	0	4	7			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28662356C>A	ENST00000280904.6	-	9	1554	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	DSC2_ENST00000251081.6_Missense_Mutation_p.V371L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	371	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGATTTCCACATCAACTGTA	0.323													7	27					8.12818e-05	8.3397e-05	1	0	A	28662356	C	A	28662356	3	1	433	1	0	0	0	0	1	0	0	0	4802	478	17	4	1666	4	DSC2	18	28662356	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	6904270	28662356	49414892	181	85569			2	131		3	3	651	C		1.130558e-05
DSC2	1824	broad.mit.edu	37	chr18	28662371	28662371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccacatcaactgtattttCttccactgatgtcacatact	10	16	3	12	0	3	1	2	1	1	0	5	1	5	1	2	0	2	1	2	0	3	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28662371C>T	ENST00000280904.6	-	9	1539	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	DSC2_ENST00000251081.6_Missense_Mutation_p.E366K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	366	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACTGTATTTTCTTCCACTGAT	0.328													7	25					0	0	0	0	T	28662371	C	T	28662371	3	4	433	1	0	0	0	0	1	0	0	0	4802	922	32	2	1681	2	DSC2	18	28662371	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	15	28662371	49414877	182	85570			2	131		3	3	651	C		1.130558e-05
DSC2	1824	broad.mit.edu	37	chr18	28663006	28663006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcttgtacttttattttCaactggtacttgtcaattaa	10	20	5	6	0	3	0	2	0	1	0	3	0	3	0	0	1	3	2	0	1	6	9			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28663006C>T	ENST00000280904.6	-	8	1406	c.963G>A	c.(961-963)ttG>ttA	p.L321L	DSC2_ENST00000251081.6_Silent_p.L321L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	321	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTTTATTTTCAACTGGTACT	0.303													3	8					0	0	0	0	T	28663006	C	T	28663006	2	4	433	1	0	0	0	0	0	0	0	1	4802	825	29	2		2	DSC2	18	28663006	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	635	28663006	49414242	183	85571			2	131		3	3	651	C		1.130558e-05
GRP	2922	broad.mit.edu	37	chr18	56892771	56892771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagtcttcttctgtttctGagagagggagcctgaagcag	8	11	15	7	0	4	3	0	2	4	1	4	6	4	5	1	2	2	2	1	2	1	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:56892771G>A	ENST00000256857.2	+	2	285	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GRP_ENST00000529320.2_Missense_Mutation_p.E63K|GRP_ENST00000420468.2_Missense_Mutation_p.E63K	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	63					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TTCTGTTTCTGAGAGAGGGAG	0.448													20	71					0	0	0	0	A	56892771	G	A	56892771	3	1	433	1	0	0	0	0	1	0	0	0	6855	1291	45	2	193	2	GRP	18	56892771	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	28229765	56892771	21184477	184	85572											
FUT3	2525	broad.mit.edu	37	chr19	5844676	5844676	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggagggtggggcgggTgggagtggtgtcctgtcggg	4	8	24	5	2	1	0	1	0	0	0	3	3	2	2	1	8	0	0	1	8	0	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:5844676T>G	ENST00000303225.6	-	3	809	c.175A>C	c.(175-177)Acc>Ccc	p.T59P	FUT3_ENST00000589918.1_Missense_Mutation_p.T59P|FUT3_ENST00000458379.2_Missense_Mutation_p.T59P|FUT3_ENST00000589620.1_Missense_Mutation_p.T59P	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	59					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGGGGCGGGTGGGAGTGGTG	0.637													6	53					0	0	0	0	G	5844676	T	G	5844676	3	3	433	1	0	0	0	0	1	0	0	0	6153	1696	59	5	914	5	FUT3	19	5844676	Missense_Mutation	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08		5844676	53284307	185	85573											
CD209	30835	broad.mit.edu	37	chr19	7810576	7810576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccgggtcagctcctggtaGatctcctgctgcttagattt	6	13	11	11	1	2	2	1	0	1	2	4	2	3	2	3	2	4	4	3	2	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:7810576G>C	ENST00000315599.7	-	4	598	c.576C>G	c.(574-576)atC>atG	p.I192M	CD209_ENST00000354397.6_Missense_Mutation_p.I192M|CD209_ENST00000593821.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.I168M|CD209_ENST00000204801.8_Missense_Mutation_p.I148M|CD209_ENST00000301357.8_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.I168M|CD209_ENST00000602261.1_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.I168M|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.I168M	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	192	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTCCTGGTAGATCTCCTGCT	0.552													5	178					0	0	0	0	C	7810576	G	C	7810576	3	2	433	1	0	0	0	0	1	0	0	0	3013	932	33	2	654	2	CD209	19	7810576	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	1965900	7810576	51318407	186	85574											
SNAPC2	6618	broad.mit.edu	37	chr19	7985294	7985294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcggccccggcgcgctatCtgggcgaggtgaccggtccc	4	5	17	15	6	1	1	0	1	1	0	2	3	2	1	4	5	1	1	4	5	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:7985294C>G	ENST00000221573.6	+	1	94	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V		NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	15					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGCGCGCTATCTGGGCGAGGT	0.721													3	16					0	0	0	0	G	7985294	C	G	7985294	3	3	433	1	0	0	0	0	1	0	0	0	14923	912	32	2	45	2	SNAPC2	19	7985294	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	174718	7985294	51143689	187	85575											
MUC16	94025	broad.mit.edu	37	chr19	9075892	9075892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagctgtctgcccttgtcTctgaaaagttgcatctggag	9	12	11	9	0	3	2	0	1	3	1	4	3	3	3	1	1	3	3	1	1	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:9075892T>C	ENST00000397910.4	-	3	11757	c.11554A>G	c.(11554-11556)Aga>Gga	p.R3852G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCCTTGTCTCTGAAAAGTT	0.493													17	58					0	0	0	0	C	9075892	T	C	9075892	3	2	433	1	0	0	0	0	1	0	0	0	10043	1559	54	5	32297	5	MUC16	19	9075892	Missense_Mutation	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08	1090598	9075892	50053091	188	85576											
PPAN	56342	broad.mit.edu	37	chr19	10224616	10224616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctggagcgcttcctcttCacctgcaacctgctgggcag	5	9	11	16	2	2	0	1	0	1	0	3	1	3	1	4	2	4	4	4	2	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:10224616C>T	ENST00000556468.1	+	13	1614	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	P2RY11_ENST00000321826.4_Silent_p.F109F|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.F529F					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCTTCCTCTTCACCTGCAACC	0.667											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	99					0	0	0	0	T	10224616	C	T	10224616	2	4	433	1	0	0	0	0	0	0	0	1	12359	825	29	2		2	PPAN	19	10224616	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	1148724	10224616	48904367	189	85577											
TYK2	7297	broad.mit.edu	37	chr19	10477149	10477149	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcggagagcgaggtgacaGaggtgcagaaaggccatgcc	11	4	18	8	2	0	4	0	1	0	3	0	6	0	4	2	5	3	1	2	5	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:10477149G>C	ENST00000525621.1	-	6	1054	c.573C>G	c.(571-573)ctC>ctG	p.L191L	TYK2_ENST00000524462.1_Silent_p.L6L|TYK2_ENST00000529370.1_Silent_p.L191L|TYK2_ENST00000264818.6_Silent_p.L191L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	191	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAGGTGACAGAGGTGCAGAA	0.582													22	125					0	0	0	0	C	10477149	G	C	10477149	2	2	433	1	0	0	0	0	0	0	0	1	16906	929	33	2		2	TYK2	19	10477149	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	252533	10477149	48651834	190	85578											
EPS15L1	58513	broad.mit.edu	37	chr19	16536088	16536088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggcagggcggagggcaCgggctccttctccagggctc	4	5	19	13	3	1	0	0	0	1	0	4	1	2	1	2	7	0	4	2	7	0	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:16536088C>T	ENST00000602009.1	-	3	1031	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	EPS15L1_ENST00000455140.2_Missense_Mutation_p.V200M|EPS15L1_ENST00000248070.6_Missense_Mutation_p.V200M|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V200M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V200M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V200M			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	200	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCGGAGGGCACGGGCTCCTTC	0.652													3	19					0	0	0	0	T	16536088	C	T	16536088	3	4	433	1	0	0	0	0	1	0	0	0	5231	536	19	1	2056	1	EPS15L1	19	16536088	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	6058939	16536088	42592895	191	85579											
MYO9B	4650	broad.mit.edu	37	chr19	17212828	17212828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcacaggacgagcaccctCaggaggatggctactacttc	10	6	13	12	1	1	0	1	0	0	0	2	4	1	3	1	5	3	3	1	5	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:17212828C>G	ENST00000595618.1	+	2	453	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	MYO9B_ENST00000594824.1_Missense_Mutation_p.Q101E|MYO9B_ENST00000397274.2_Missense_Mutation_p.Q101E	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	101	Myosin head-like.|Ras-associating.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGAGCACCCTCAGGAGGATGG	0.647													21	45					0	0	0	0	G	17212828	C	G	17212828	3	3	433	1	0	0	0	0	1	0	0	0	10155	827	29	2	303	2	MYO9B	19	17212828	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	676740	17212828	41916155	192	85580											
GPATCH1	55094	broad.mit.edu	37	chr19	33600794	33600794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcggctgctgggcactgctCttggaacatggcattaggtg	7	10	15	9	1	1	0	0	0	1	0	1	1	1	1	0	5	4	5	0	5	2	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:33600794C>G	ENST00000170564.2	+	11	1771	c.1457C>G	c.(1456-1458)tCt>tGt	p.S486C		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	486						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGGCACTGCTCTTGGAACATG	0.572													6	78					0	0	0	0	G	33600794	C	G	33600794	3	3	433	1	0	0	0	0	1	0	0	0	6639	913	32	2	1499	2	GPATCH1	19	33600794	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	16387966	33600794	25528189	193	85581											
CD22	933	broad.mit.edu	37	chr19	35832795	35832795	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgaaggtccagcactcGggtgcctactggtgccaggg	6	7	16	12	2	0	1	0	1	0	0	2	1	1	1	4	5	4	1	4	5	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:35832795G>A	ENST00000085219.5	+	9	2028	c.1962G>A	c.(1960-1962)tcG>tcA	p.S654S	CD22_ENST00000536635.2_Silent_p.S566S|CD22_ENST00000594250.1_Silent_p.S477S|CD22_ENST00000544992.2_Silent_p.S654S|CD22_ENST00000419549.2_Silent_p.S482S|CD22_ENST00000341773.6_Silent_p.S477S|CD22_ENST00000270311.6_Silent_p.S534S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	654	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCAGCACTCGGGTGCCTACT	0.587													18	85					0	0	0	0	A	35832795	G	A	35832795	2	1	433	1	0	0	0	0	0	0	0	1	3014	1103	39	1		1	CD22	19	35832795	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	2232001	35832795	23296188	194	85582											
PSG11	5680	broad.mit.edu	37	chr19	43523178	43523178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtttaagttgctgctggaGatggagggcttgggagtctc	6	12	18	5	0	1	1	0	0	1	1	2	4	1	3	0	5	2	5	0	5	1	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:43523178G>C	ENST00000401740.1	-	3	556	c.453C>G	c.(451-453)atC>atG	p.I151M	PSG11_ENST00000403486.1_Missense_Mutation_p.I29M|PSG11_ENST00000306322.7_Missense_Mutation_p.I29M|PSG11_ENST00000320078.7_Missense_Mutation_p.I151M|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	151	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGCT	0.507													84	254					0	0	0	0	C	43523178	G	C	43523178	3	2	433	1	0	0	0	0	1	0	0	0	12733	932	33	2	566	2	PSG11	19	43523178	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	7690383	43523178	15605805	195	85583											
BCAM	4059	broad.mit.edu	37	chr19	45316773	45316773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccctctacctgcggctccGcaaggatgaccgagacgcca	9	5	10	17	4	1	2	0	1	1	1	2	4	2	3	5	2	2	2	5	2	2	1	rs138320602		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:45316773G>A	ENST00000391955.1	+	6	724	c.680G>A	c.(679-681)cGc>cAc	p.R227H	BCAM_ENST00000270233.6_Missense_Mutation_p.R227H			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	227	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTGCGGCTCCGCAAGGATGAC	0.706													4	127					0	0	0	0	A	45316773	G	A	45316773	3	1	433	1	0	0	0	0	1	0	0	0	1348	1087	38	1	702	1	BCAM	19	45316773	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	1793595	45316773	13812210	196	85584											
FPR1	2357	broad.mit.edu	37	chr19	52249448	52249448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcaataactcacggattCtgactgtggctataagggcc	10	11	10	10	1	2	1	1	1	1	0	2	2	2	2	1	3	2	2	1	3	4	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:52249448C>T	ENST00000595042.1	-	3	941	c.800G>A	c.(799-801)aGa>aAa	p.R267K	FPR1_ENST00000304748.4_Missense_Mutation_p.R267K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	267					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CTCACGGATTCTGACTGTGGC	0.507													15	40					0	0	0	0	T	52249448	C	T	52249448	3	4	433	1	0	0	0	0	1	0	0	0	6085	913	32	2	256	2	FPR1	19	52249448	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	6932675	52249448	6879535	197	85585											
LILRB1	10859	broad.mit.edu	37	chr19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-																															ccatccatcacctgggaacaTgcagggcggtatcgctgtta																								rs12462774	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)cacafs	p.HA92fs	LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	92	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)			8	156	---	---	---	---					-	55143157	TG	-	55143156	7	5	433	1	0	1	0	1	0	0	0	0	8844	1461	51	0	286	0	LILRB1	19	55143156	Frame_Shift_Del	DEL	TG	TCGA-IQ-A61E-01A-22D-A30E-08	2893708	55143156	3985827	198	85586											
NLRP5	126206	broad.mit.edu	37	chr19	56539108	56539108	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctcacaggcctgcacgcCgcttttgtgtttcatcagct	6	12	9	14	3	3	0	3	0	0	0	3	0	3	0	2	1	2	5	2	1	0	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:56539108C>T	ENST00000390649.3	+	7	1509	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	503	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCTGCACGCCGCTTTTGTGT	0.632													15	32					0	0	0	0	T	56539108	C	T	56539108	2	4	433	1	0	0	0	0	0	0	0	1	10550	639	23	1		1	NLRP5	19	56539108	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	1395952	56539108	2589875	199	85587											
ESF1	51575	broad.mit.edu	37	chr20	13753256	13753256	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttccaaattctgaaggAtatatctaaacagaaaaaaa	19	11	4	7	0	2	2	0	1	2	1	4	3	4	3	2	1	1	0	2	1	9	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:13753256A>T	ENST00000202816.1	-	5	1262	c.1155T>A	c.(1153-1155)taT>taA	p.Y385*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATTCTGAAGGATATATCTAAA	0.363													16	50					0	0	0	0	T	13753256	A	T	13753256	4	4	433	1	0	0	0	0	0	1	0	0	5289	340	12	5	1440	5	ESF1	20	13753256	Nonsense_Mutation	SNP	A	TCGA-IQ-A61E-01A-22D-A30E-08		13753256	49272264	200	85588											
KIF16B	55614	broad.mit.edu	37	chr20	16348101	16348101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacccggaggaggtatgtttCgagatcgaatgcgtggataa	11	9	14	7	4	0	1	0	0	0	1	2	6	0	4	1	4	1	2	1	4	3	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:16348101C>T	ENST00000408042.1	-	23	4026	c.3869G>A	c.(3868-3870)cGa>cAa	p.R1290Q	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGTATGTTTCGAGATCGAAT	0.453													15	134					0	0	0	0	T	16348101	C	T	16348101	3	4	433	1	0	0	0	0	1	0	0	0	8329	899	31	1		1	KIF16B	20	16348101	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	2594845	16348101	46677419	201	85589											
KIF16B	55614	broad.mit.edu	37	chr20	16496215	16496215	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttcccatcatagtgtatGactttccagatccagtttgc	10	15	6	10	0	1	2	1	1	0	1	4	2	4	2	3	0	1	2	3	0	3	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:16496215G>C	ENST00000354981.2	-	4	483	c.326C>G	c.(325-327)tCa>tGa	p.S109*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.S109*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.S109*|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	109	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CATAGTGTATGACTTTCCAGA	0.383													18	57					0	0	0	0	C	16496215	G	C	16496215	4	2	433	1	0	0	0	0	0	1	0	0	8329	1294	45	2	3719	2	KIF16B	20	16496215	Nonsense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	148114	16496215	46529305	202	85590											
KIF3B	9371	broad.mit.edu	37	chr20	30915388	30915388	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatgaagcggccagtctCagccgtgggatataagagac	12	7	14	8	2	1	3	1	2	1	1	2	6	1	4	2	2	2	0	2	2	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:30915388C>G	ENST00000375712.3	+	7	2059	c.1892C>G	c.(1891-1893)tCa>tGa	p.S631*	KIF3B_ENST00000418717.2_Nonsense_Mutation_p.S257*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	631	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGGCCAGTCTCAGCCGTGGGA	0.517													11	94					0	0	0	0	G	30915388	C	G	30915388	4	3	433	1	0	0	0	0	0	1	0	0	8352	838	29	2	1914	2	KIF3B	20	30915388	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	14419173	30915388	32110132	203	85591											
PREX1	57580	broad.mit.edu	37	chr20	47305300	47305300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcttctcccccttctccGcaatcatgacgtaggcatca	9	10	6	16	2	4	1	2	1	2	0	6	1	4	1	3	1	1	4	3	1	2	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:47305300G>A	ENST00000396220.1	-	10	1251	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V	PREX1_ENST00000371941.3_Missense_Mutation_p.A410V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	410					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCCTTCTCCGCAATCATGAC	0.582													4	125					0	0	0	0	A	47305300	G	A	47305300	3	1	433	1	0	0	0	0	1	0	0	0	12556	1087	38	1	3874	1	PREX1	20	47305300	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	16389912	47305300	15720220	204	85592											
FAM65C	140876	broad.mit.edu	37	chr20	49208987	49208987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcgcccaggctcttaagGtctggggcagaggctggagc	7	6	17	11	1	2	1	0	0	2	1	2	2	2	2	1	6	2	4	1	6	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:49208987G>A	ENST00000327979.2	-	19	2870	c.2459C>T	c.(2458-2460)aCc>aTc	p.T820I	FAM65C_ENST00000045083.2_Missense_Mutation_p.T820I|FAM65C_ENST00000535356.1_Missense_Mutation_p.T824I			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	820										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTCTTAAGGTCTGGGGCAG	0.667													11	39					0	0	0	0	A	49208987	G	A	49208987	3	1	433	1	0	0	0	0	1	0	0	0	5647	1261	44	4	397	4	FAM65C	20	49208987	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	1903687	49208987	13816533	205	85593											
UCKL1	54963	broad.mit.edu	37	chr20	62577836	62577836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctttggattgcgtgcCgtgttcattgtaccagggcg	4	13	14	10	3	2	0	1	0	1	0	2	1	2	1	3	3	3	2	3	3	1	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:62577836C>T	ENST00000369908.5	-	2	528	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	UCKL1_ENST00000354216.6_Missense_Mutation_p.G92S|UCKL1_ENST00000358711.3_Missense_Mutation_p.G92S|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.G92S	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	92					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GATTGCGTGCCGTGTTCATTG	0.667													7	19					0	0	0	0	T	62577836	C	T	62577836	3	4	433	1	0	0	0	0	1	0	0	0	17021	652	23	1	1428	1	UCKL1	20	62577836	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	13368849	62577836	447684	206	85594											
OPRL1	4987	broad.mit.edu	37	chr20	62729928	62729928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccgagcagcgagactGccgtggccattctgcgcttc	6	9	12	14	4	2	1	1	0	1	1	3	3	2	1	3	1	5	2	3	1	0	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:62729928G>T	ENST00000349451.3	+	6	1301	c.889G>T	c.(889-891)Gcc>Tcc	p.A297S	OPRL1_ENST00000336866.2_Missense_Mutation_p.A297S|OPRL1_ENST00000355631.4_Missense_Mutation_p.A297S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	297					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CAGCGAGACTGCCGTGGCCAT	0.632													23	58					3.62473e-10	3.86265e-10	1	0	T	62729928	G	T	62729928	3	4	433	1	0	0	0	0	1	0	0	0	10957	1319	46	4	899	4	OPRL1	20	62729928	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	152092	62729928	295592	207	85595											
KCNJ15	3772	broad.mit.edu	37	chr21	39671750	39671750	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgcagtcatcaccaagcaGaatgggaagctgtgcttggt	10	10	13	8	0	2	1	2	0	0	1	2	2	2	2	1	2	4	4	1	2	3	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr21:39671750G>C	ENST00000398930.1	+	4	921	c.567G>C	c.(565-567)caG>caC	p.Q189H	KCNJ15_ENST00000398938.2_Missense_Mutation_p.Q189H|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Q189H			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	189					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCACCAAGCAGAATGGGAAGC	0.527													13	61					0	0	0	0	C	39671750	G	C	39671750	3	2	433	1	0	0	0	0	1	0	0	0	8102	933	33	2	569	2	KCNJ15	21	39671750	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08		39671750	8458145	208	85596											
COL18A1	80781	broad.mit.edu	37	chr21	46888624	46888624	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgccgcttgctcggtcctCacggggcctggagctggagc	5	8	15	13	3	1	0	1	0	0	0	3	2	2	2	3	5	4	3	3	5	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr21:46888624C>G	ENST00000359759.4	+	2	1841	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	COL18A1_ENST00000355480.5_Nonsense_Mutation_p.S372*|COL18A1_ENST00000400337.2_Nonsense_Mutation_p.S192*			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	607	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCTCGGTCCTCACGGGGCCTG	0.657													12	25					0	0	0	0	G	46888624	C	G	46888624	4	3	433	1	0	0	0	0	0	1	0	0	3705	838	29	2	1940	2	COL18A1	21	46888624	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	7216874	46888624	1241271	209	85597											
ARVCF	421	broad.mit.edu	37	chr22	19963263	19963263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcaaagttccggtccaTctcaccatccttctttcctg	6	14	6	15	2	3	0	2	0	2	0	8	0	7	0	5	1	0	1	5	1	1	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:19963263T>C	ENST00000263207.3	-	11	2197	c.1906A>G	c.(1906-1908)Atg>Gtg	p.M636V	ARVCF_ENST00000406522.1_Missense_Mutation_p.M567V|ARVCF_ENST00000406259.1_Missense_Mutation_p.M630V|ARVCF_ENST00000344269.3_Missense_Mutation_p.M573V|ARVCF_ENST00000401994.1_Missense_Mutation_p.M573V	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	636					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TTCCGGTCCATCTCACCATCC	0.577													7	31					0	0	0	0	C	19963263	T	C	19963263	3	2	433	1	0	0	0	0	1	0	0	0	1007	1435	50	5	1018	5	ARVCF	22	19963263	Missense_Mutation	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08		19963263	31341303	210	85598											
FBXO7	25793	broad.mit.edu	37	chr22	32881150	32881150	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgcgagggcagctcCgctactctcacctgtgtgcc	4	10	10	17	2	2	0	1	0	2	0	5	1	3	0	4	1	4	3	4	1	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:32881150C>T	ENST00000266087.7	+	4	1068	c.741C>T	c.(739-741)tcC>tcT	p.S247S	FBXO7_ENST00000397426.1_Silent_p.S133S|FBXO7_ENST00000382058.3_Silent_p.S168S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	247					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGGCAGCTCCGCTACTCTCA	0.502													9	75					0	0	0	0	T	32881150	C	T	32881150	2	4	433	1	0	0	0	0	0	0	0	1	5805	639	23	1		1	FBXO7	22	32881150	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	12917887	32881150	18423416	211	85599											
MYH9	4627	broad.mit.edu	37	chr22	36708154	36708154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcagctgcttgggcttctgGaacttggggtgggtgccctg	3	13	16	9	0	2	0	1	0	1	0	2	1	2	1	1	5	4	3	1	5	1	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:36708154G>A	ENST00000216181.5	-	14	1898	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	556	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCTTCTGGAACTTGGGGT	0.587			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				15	137					0	0	0	0	A	36708154	G	A	36708154	2	1	433	1	0	0	0	0	0	0	0	1	10112	1165	41	2		2	MYH9	22	36708154	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	3827004	36708154	14596412	212	85600											
MFNG	4242	broad.mit.edu	37	chr22	37870703	37870703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagagcagatgtgtccatGaaacgggagccactgaggga	13	6	15	7	1	0	4	0	3	0	2	1	7	1	6	2	2	3	1	2	2	1	0			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:37870703G>A	ENST00000356998.3	-	6	883	c.660C>T	c.(658-660)ttC>ttT	p.F220F	MFNG_ENST00000416983.3_Silent_p.F206F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	220					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					ATGTGTCCATGAAACGGGAGC	0.642													5	72					0	0	0	0	A	37870703	G	A	37870703	2	1	433	1	0	0	0	0	0	0	0	1	9594	1281	45	2		2	MFNG	22	37870703	Silent	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	1162549	37870703	13433863	213	85601											
SHANK3	85358	broad.mit.edu	37	chr22	51117268	51117268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgaagaatggtggtGcccacctggacttccgcact	8	9	13	11	1	0	2	0	1	0	1	1	3	1	3	3	4	2	2	3	4	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:51117268G>A	ENST00000414786.2	+	5	747	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	SHANK3_ENST00000262795.3_Missense_Mutation_p.A174T|SHANK3_ENST00000445220.2_Missense_Mutation_p.A174T			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	174										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GAATGGTGGTGCCCACCTGGA	0.647													4	21					0	0	0	0	A	51117268	G	A	51117268	3	1	433	1	0	0	0	0	1	0	0	0	14354	1319	46	4	538	4	SHANK3	22	51117268	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	13246565	51117268	187298	214	85602											
MXRA5	25878	broad.mit.edu	37	chrX	3240601	3240601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagactacttttcacaaggTggatgttgtctgtcagtcct	8	16	9	8	0	3	1	2	0	1	1	4	2	4	2	1	2	1	1	1	2	3	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:3240601T>C	ENST00000217939.6	-	5	3279	c.3125A>G	c.(3124-3126)cAc>cGc	p.H1042R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1042						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTCACAAGGTGGATGTTGTC	0.428													16	109					0	0	0	0	C	3240601	T	C	3240601	3	2	433	1	0	0	0	0	1	0	0	0	10073	1696	59	5	5373	5	MXRA5	23	3240601	Missense_Mutation	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08		3240601	152029959	215	85603											
MAGEB6	158809	broad.mit.edu	37	chrX	26212747	26212747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggattccagcggcgagtccTacacccttgtcagcaagcta	9	9	10	13	2	1	0	1	0	0	0	3	2	3	1	3	2	4	2	3	2	3	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:26212747T>C	ENST00000379034.1	+	2	933	c.784T>C	c.(784-786)Tac>Cac	p.Y262H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	262	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGGCGAGTCCTACACCCTTGT	0.527													4	138					0	0	0	0	C	26212747	T	C	26212747	3	2	433	1	0	0	0	0	1	0	0	0	9248	1522	53	5	786	5	MAGEB6	23	26212747	Missense_Mutation	SNP	T	TCGA-IQ-A61E-01A-22D-A30E-08	22972146	26212747	129057813	216	85604											
MED14	9282	broad.mit.edu	37	chrX	40534570	40534570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcctcatttacagaccttCttcgagcatcctgattgctg	7	14	7	13	2	2	2	1	1	1	1	5	3	4	2	3	0	3	2	3	0	1	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:40534570C>T	ENST00000324817.1	-	22	3042	c.2924G>A	c.(2923-2925)aGa>aAa	p.R975K	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	975					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACAGACCTTCTTCGAGCATC	0.388													10	37					0	0	0	0	T	40534570	C	T	40534570	3	4	433	1	0	0	0	0	1	0	0	0	9501	913	32	2	1480	2	MED14	23	40534570	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	14321823	40534570	114735990	217	85605											
AKAP4	8852	broad.mit.edu	37	chrX	49958758	49958758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggggaaatgactgctctCtgagtgctaggaggtttggc	8	11	15	7	0	2	2	1	2	1	0	3	4	2	4	0	5	2	3	0	5	2	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:49958758C>G	ENST00000376056.2	-	5	729	c.579G>C	c.(577-579)caG>caC	p.Q193H	AKAP4_ENST00000376064.3_Missense_Mutation_p.Q193H|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q202H|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	202					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.Q202H(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGACTGCTCTCTGAGTGCTAG	0.443													25	181					0	0	0	0	G	49958758	C	G	49958758	3	3	433	1	0	0	0	0	1	0	0	0	453	912	32	2	1966	2	AKAP4	23	49958758	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	9424188	49958758	105311802	218	85606											
GSPT2	23708	broad.mit.edu	37	chrX	51487557	51487557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgtgcctattttgaaacaGaaaggaaacatttcacaatt	15	12	7	7	1	1	2	1	1	0	1	2	3	1	3	1	1	3	0	1	1	5	5			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:51487557G>A	ENST00000340438.4	+	1	1077	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	279					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TTTTGAAACAGAAAGGAAACA	0.438													23	150					0	0	0	0	A	51487557	G	A	51487557	3	1	433	1	0	0	0	0	1	0	0	0	6877	943	33	2	837	2	GSPT2	23	51487557	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	1528799	51487557	103783003	219	85607											
PAGE2B	389860	broad.mit.edu	37	chrX	55102484	55102484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggaaatatgagtgagCatgtgagaacaagatcccaa	16	7	12	6	0	0	4	0	3	0	2	1	6	1	5	1	1	2	1	1	1	5	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:55102484C>A	ENST00000374971.1	+	2	62	c.10C>A	c.(10-12)Cat>Aat	p.H4N	PAGE2B_ENST00000374974.3_Missense_Mutation_p.H4N	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	4										lung(3)	3						TATGAGTGAGCATGTGAGAAC	0.363													5	48					0.014758	0.014975	1	0	A	55102484	C	A	55102484	3	1	433	1	0	0	0	0	1	0	0	0	11462	710	25	4	12	4	PAGE2B	23	55102484	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	3614927	55102484	100168076	220	85608											
USP51	158880	broad.mit.edu	37	chrX	55513641	55513641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgagctgtttagtagactCctggtagctttggcaactat	8	15	11	7	0	0	2	0	1	0	1	1	2	1	2	1	2	3	6	1	2	5	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:55513641C>T	ENST00000500968.3	-	2	1814	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	578					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAGTAGACTCCTGGTAGCTT	0.433													13	36					0	0	0	0	T	55513641	C	T	55513641	3	4	433	1	0	0	0	0	1	0	0	0	17179	864	30	2	407	2	USP51	23	55513641	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	411157	55513641	99756919	221	85609											
DLG3	1741	broad.mit.edu	37	chrX	69672598	69672598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctccctgcggcccggagggGatgccaggtaggagtggagg	6	5	20	10	2	0	0	0	0	0	0	1	4	1	4	3	8	2	2	3	8	1	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:69672598G>C	ENST00000374355.3	+	1	444	c.127G>C	c.(127-129)Gat>Cat	p.D43H	DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	0					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GCCCGGAGGGGATGCCAGGTA	0.682													3	39					0	0	0	0	C	69672598	G	C	69672598	3	2	433	1	0	0	0	0	1	0	0	0	4593	1174	41	2	1302	2	DLG3	23	69672598	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	14158957	69672598	85597962	222	85610											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70524841	70524841	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgtggagcagagctctgtCttcttgatgccatctcgggt	7	12	12	10	2	4	2	0	1	4	1	5	3	4	3	1	2	4	2	1	2	1	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:70524841C>G	ENST00000538820.1	+	10	1129	c.789C>G	c.(787-789)gtC>gtG	p.V263V	ITGB1BP2_ENST00000373829.3_Silent_p.V281V			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	281	CS.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AGAGCTCTGTCTTCTTGATGC	0.532													14	27					0	0	0	0	G	70524841	C	G	70524841	2	3	433	1	0	0	0	0	0	0	0	1	7945	900	32	2		2	ITGB1BP2	23	70524841	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	852243	70524841	84745719	223	85611											
HDX	139324	broad.mit.edu	37	chrX	83724252	83724252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaagcatttttacagtgtGctacttgtctttggacagga	9	14	12	6	0	1	0	0	0	1	0	1	3	1	3	0	3	4	2	0	3	3	6			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:83724252G>T	ENST00000297977.5	-	3	590	c.479C>A	c.(478-480)gCa>gAa	p.A160E	HDX_ENST00000506585.2_Missense_Mutation_p.A102E|HDX_ENST00000373177.2_Missense_Mutation_p.A160E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTACAGTGTGCTACTTGTCT	0.368													24	89					3.83957e-06	4.0141e-06	1	0	T	83724252	G	T	83724252	3	4	433	1	0	0	0	0	1	0	0	0	7076	1319	46	4	1625	4	HDX	23	83724252	Missense_Mutation	SNP	G	TCGA-IQ-A61E-01A-22D-A30E-08	13199411	83724252	71546308	224	85612											
PCDH11X	27328	broad.mit.edu	37	chrX	91873367	91873367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgctggatgccggcatctCtggatcattccagctcttcg	5	12	10	14	2	3	0	1	0	2	0	6	2	4	2	3	3	3	3	3	3	0	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:91873367C>T	ENST00000373094.1	+	7	4317	c.3472C>T	c.(3472-3474)Ctg>Ttg	p.L1158L	PCDH11X_ENST00000406881.1_Silent_p.L1150L|PCDH11X_ENST00000373097.1_Silent_p.L1148L|PCDH11X_ENST00000361655.2_Silent_p.L1140L|PCDH11X_ENST00000373088.1_Silent_p.L1121L|PCDH11X_ENST00000298274.8_Silent_p.L1121L|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1158					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCGGCATCTCTGGATCATTC	0.532													20	67					0	0	0	0	T	91873367	C	T	91873367	2	4	433	1	0	0	0	0	0	0	0	1	11579	912	32	2		2	PCDH11X	23	91873367	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	8149115	91873367	63397193	225	85613											
PLS3	5358	broad.mit.edu	37	chrX	114869218	114869218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgaacttggcactgaactCtgcttctgccattgggtgtc	6	14	10	11	0	2	2	0	2	2	0	3	2	2	2	1	2	4	2	1	2	2	4			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:114869218C>G	ENST00000420625.2	+	7	742	c.608C>G	c.(607-609)tCt>tGt	p.S203C	PLS3_ENST00000539310.1_Missense_Mutation_p.S158C|PLS3_ENST00000355899.3_Missense_Mutation_p.S203C|PLS3_ENST00000537301.1_Missense_Mutation_p.S181C|PLS3_ENST00000289290.3_Missense_Mutation_p.S158C	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	203	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCACTGAACTCTGCTTCTGCC	0.443													14	138					0	0	0	0	G	114869218	C	G	114869218	3	3	433	1	0	0	0	0	1	0	0	0	12180	913	32	2	630	2	PLS3	23	114869218	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	22995851	114869218	40401342	226	85614											
GLUD2	2747	broad.mit.edu	37	chrX	120181976	120181976	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagcaccgcacgccctgCaagggaggtatccgttacag	10	5	12	14	3	0	0	0	0	0	0	1	1	1	1	4	2	4	5	4	2	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:120181976C>A	ENST00000328078.1	+	1	515	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	146					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCACGCCCTGCAAGGGAGGTA	0.567													31	92					1.13719e-10	1.22126e-10	1	0	A	120181976	C	A	120181976	4	1	433	1	0	0	0	0	0	1	0	0	6528	718	25	4	440	4	GLUD2	23	120181976	Nonsense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	5312758	120181976	35088584	227	85615											
GRIA3	2892	broad.mit.edu	37	chrX	122599615	122599615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtacgacaaaggagagtgCggcagcgggggcggtgactc	9	5	19	8	4	0	2	0	1	0	1	1	4	0	2	0	6	3	2	0	6	2	1			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:122599615C>T	ENST00000264357.5	+	14	2707	c.2415C>T	c.(2413-2415)tgC>tgT	p.C805C	GRIA3_ENST00000371251.1_Silent_p.C805C|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Silent_p.C805C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	805					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.C805C(1)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AAGGAGAGTGCGGCAGCGGGG	0.468													7	54					0	0	0	0	T	122599615	C	T	122599615	2	4	433	1	0	0	0	0	0	0	0	1	6819	776	27	1		1	GRIA3	23	122599615	Silent	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	2417639	122599615	32670945	228	85616											
GPR119	139760	broad.mit.edu	37	chrX	129519308	129519308	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaagcagagactgacAccatcattcttgtggatcaa	14	9	10	8	0	3	3	2	2	1	1	3	5	3	4	1	2	1	1	1	2	3	2			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:129519308A>G	ENST00000276218.2	-	1	203	c.114T>C	c.(112-114)ggT>ggC	p.G38G		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	38						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAGACTGACACCATCATTCT	0.532													111	290					0	0	0	0	G	129519308	A	G	129519308	2	3	433	1	0	0	0	0	0	0	0	1	6683	146	6	5		5	GPR119	23	129519308	Silent	SNP	A	TCGA-IQ-A61E-01A-22D-A30E-08	6919693	129519308	25751252	229	85617											
MAGEC1	9947	broad.mit.edu	37	chrX	140995785	140995785	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctcctccacttcattgagCccattcagtgaagagtccag	9	11	7	14	0	2	3	2	2	0	1	6	3	6	3	5	0	1	0	5	0	1	3			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:140995785C>G	ENST00000285879.4	+	4	2881	c.2595C>G	c.(2593-2595)agC>agG	p.S865R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	865							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCATTGAGCCCATTCAGTG	0.507										HNSCC(15;0.026)			19	273					0	0	0	0	G	140995785	C	G	140995785	3	3	433	1	0	0	0	0	1	0	0	0	9249	738	26	4	2601	4	MAGEC1	23	140995785	Missense_Mutation	SNP	C	TCGA-IQ-A61E-01A-22D-A30E-08	11476477	140995785	14274775	230	85618											
CCNL2	81669	broad.mit.edu	37	chr1	1325745	1325745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaccctccaggtgtgtgaGatcaacctgcaaaagccaga	12	8	9	12	0	2	2	2	1	0	2	3	3	3	2	4	1	3	1	4	1	3	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:1325745G>C	ENST00000400809.3	-	8	876	c.871C>G	c.(871-873)Ctc>Gtc	p.L291V	CCNL2_ENST00000408952.5_Missense_Mutation_p.L69V|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	291					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGGTGTGTGAGATCAACCTGC	0.517													28	55					0	0	0	0	C	1325745	G	C	1325745	3	2	434	1	0	0	0	0	1	0	0	0	2961	942	33	2	707	2	CCNL2	1	1325745	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		1325745	247924876	1	85619											
LRRC7	57554	broad.mit.edu	37	chr1	70541926	70541926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacccggggacctcagcctgGacggtgcttaattcaaacta	10	8	10	13	2	2	0	2	0	0	0	2	2	2	2	3	4	3	1	3	4	3	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:70541926G>T	ENST00000310961.5	+	24	4575	c.4157G>T	c.(4156-4158)gGa>gTa	p.G1386V	LRRC7_ENST00000415775.2_Missense_Mutation_p.G712V|LRRC7_ENST00000035383.5_Missense_Mutation_p.G1428V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1428						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTCAGCCTGGACGGTGCTTA	0.438													20	82					2.37509e-13	2.62079e-13	1	0	T	70541926	G	T	70541926	3	4	434	1	0	0	0	0	1	0	0	0	9084	1174	41	2	4369	2	LRRC7	1	70541926	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	69216181	70541926	178708695	2	85620											
GSTM4	2948	broad.mit.edu	37	chr1	110199045	110199045	+	Missense_Mutation	SNP	G	G	A																															tggggtactgggacatccgcGgggtgagtgagggtccgctg																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:110199045G>A	ENST00000369836.4	+	1	343	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Missense_Mutation_p.G12R|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.G12R	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	12	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGACATCCGCGGGGTGAGTGA	0.652													27	109					0	0	0	0	A	110199045	G	A	110199045	3	1	434	1	0	0	0	0	1	0	0	0	6890	1116	39	1	36	1	GSTM4	1	110199045	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	39657119	110199045	139051576	3	85621	1074	2									
GSTM4	2948	broad.mit.edu	37	chr1	110199046	110199046	+	Splice_Site	SNP	G	G	A																															ggggtactgggacatccgcgGggtgagtgagggtccgctgc																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:110199046G>A	ENST00000369836.4	+	1	344	c.36_splice	c.e1+1	p.G12_splice	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Splice_Site_p.G12_splice|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000336075.5_Splice_Site_p.G12_splice	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	12	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GACATCCGCGGGGTGAGTGAG	0.652													27	106					0	0	0	0	A	110199046	G	A	110199046	5	1	434	1	0	0	0	0	0	0	1	0	6890	1246	43	4	37	4	GSTM4	1	110199046	Splice_Site	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1	110199046	139051575	4	85622	1074	2									
DCLRE1B	64858	broad.mit.edu	37	chr1	114454293	114454293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaatcccctgaggaaaGtgctgatcaatctcaagctg	11	11	10	9	0	2	3	2	3	1	0	4	4	3	4	2	1	2	3	2	1	4	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:114454293G>T	ENST00000369563.3	+	4	1525	c.1079G>T	c.(1078-1080)aGt>aTt	p.S360I	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	360					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		CCTGAGGAAAGTGCTGATCAA	0.488								Other identified genes with known or suspected DNA repair function					34	81					9.04072e-19	1.05843e-18	1	0	T	114454293	G	T	114454293	3	4	434	1	0	0	0	0	1	0	0	0	4327	1029	36	4	1093	4	DCLRE1B	1	114454293	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	4255247	114454293	134796328	5	85623											
SPTA1	6708	broad.mit.edu	37	chr1	158619721	158619721	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcctctgcaaagaacccCagcgggaattcaattcctaa	14	7	7	13	1	2	1	1	0	1	1	3	2	3	2	4	1	4	1	4	1	6	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:158619721C>T	ENST00000368148.3	-	25	3674	c.3494G>A	c.(3493-3495)tGg>tAg	p.W1165*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W1165*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1165					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGAACCCCAGCGGGAATT	0.448													4	13					0	0	0	0	T	158619721	C	T	158619721	4	4	434	1	0	0	0	0	0	1	0	0	15206	595	21	4	3877	4	SPTA1	1	158619721	Nonsense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	44165428	158619721	90630900	6	85624											
LAMC1	3915	broad.mit.edu	37	chr1	183094593	183094593	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgtaaccccgtgacgggGcagtgtgaatgtttgcctca	8	10	13	10	2	1	2	1	2	0	0	1	2	1	2	3	2	3	4	3	2	2	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:183094593G>A	ENST00000258341.4	+	15	2966	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	903	Laminin EGF-like 9.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGTGACGGGGCAGTGTGAAT	0.527													61	46					0	0	0	0	A	183094593	G	A	183094593	2	1	434	1	0	0	0	0	0	0	0	1	8667	1190	42	4		4	LAMC1	1	183094593	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	24474872	183094593	66156028	7	85625											
RGS18	64407	broad.mit.edu	37	chr1	192153626	192153626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcttaggagacgatcacGctcatttacctgcaatgaat	14	11	7	9	2	3	2	2	1	1	1	3	4	3	2	1	1	2	2	1	1	5	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:192153626G>T	ENST00000367460.3	+	5	831	c.650G>T	c.(649-651)cGc>cTc	p.R217L		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	217					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGATCACGCTCATTTACC	0.348													20	46					3.51602e-12	3.85757e-12	1	0	T	192153626	G	T	192153626	3	4	434	1	0	0	0	0	1	0	0	0	13383	1087	38	3	668	3	RGS18	1	192153626	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	9059033	192153626	57096995	8	85626											
KCNT2	343450	broad.mit.edu	37	chr1	196274405	196274405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagagtaacagtctttggCtctgaattgcatgaatctca	13	12	9	7	0	3	3	1	2	3	1	4	4	3	3	0	1	2	3	0	1	4	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:196274405C>A	ENST00000367433.5	-	21	2583	c.2482G>T	c.(2482-2484)Gcc>Tcc	p.A828S	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.A778S|KCNT2_ENST00000294725.8_Missense_Mutation_p.A852S|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	852						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTCTTTGGCTCTGAATTGC	0.363													5	48					0.014758	0.0148353	1	0	A	196274405	C	A	196274405	3	1	434	1	0	0	0	0	1	0	0	0	8145	797	28	4	881	4	KCNT2	1	196274405	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	4120779	196274405	52976216	9	85627											
NUAK2	81788	broad.mit.edu	37	chr1	205272827	205272827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcagaggacaggatgctGtcctcgctcacagcccctga	9	7	11	14	1	2	2	2	1	0	1	4	5	3	4	3	2	2	2	3	2	0	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:205272827G>T	ENST00000367157.3	-	7	1764	c.1638C>A	c.(1636-1638)gaC>gaA	p.D546E		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	546					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACAGGATGCTGTCCTCGCTCA	0.687													23	66					1.64293e-13	1.82337e-13	1	0	T	205272827	G	T	205272827	3	4	434	1	0	0	0	0	1	0	0	0	10784	1368	48	4	252	4	NUAK2	1	205272827	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	8998422	205272827	43977794	10	85628											
USH2A	7399	broad.mit.edu	37	chr1	215963407	215963407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctatcaattaccttcatCatcattccagttgaaatctt	11	18	2	10	0	6	1	4	1	2	0	7	1	7	1	2	0	1	1	2	0	4	7			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:215963407C>T	ENST00000366943.2	-	51	10562	c.10176G>A	c.(10174-10176)atG>atA	p.M3392I	USH2A_ENST00000307340.3_Missense_Mutation_p.M3392I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3392					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.M3392I(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)		TTACCTTCATCATCATTCCAG	0.333										HNSCC(13;0.011)			9	37					0	0	0	0	T	215963407	C	T	215963407	3	4	434	1	0	0	0	0	1	0	0	0	17132	826	29	2	5520	2	USH2A	1	215963407	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	10690580	215963407	33287214	11	85629											
AHCTF1	25909	broad.mit.edu	37	chr1	247053320	247053320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtagtagttctgaattaCagggtagttgtagcataacc	11	13	12	5	0	1	1	0	1	1	0	1	1	1	1	1	2	3	7	1	2	7	8			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:247053320C>A	ENST00000366508.1	-	17	2333	c.2197G>T	c.(2197-2199)Gta>Tta	p.V733L	AHCTF1_ENST00000326225.3_Missense_Mutation_p.V707L|AHCTF1_ENST00000391829.2_Missense_Mutation_p.V698L|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	698	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTGAATTACAGGGTAGTTG	0.338													35	96					7.91308e-09	8.34786e-09	1	0	A	247053320	C	A	247053320	3	1	434	1	0	0	0	0	1	0	0	0	408	478	17	4	4788	4	AHCTF1	1	247053320	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	31089913	247053320	2197301	12	85630											
ALK	238	broad.mit.edu	37	chr2	29519891	29519891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaggacacgtttcccctCaagactccacgaatgagcca	13	6	7	15	2	1	2	1	1	0	1	3	4	3	3	5	1	1	1	5	1	3	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:29519891C>G	ENST00000389048.3	-	9	2586	c.1680G>C	c.(1678-1680)ttG>ttC	p.L560F	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	560	MAM 2.		L -> F (in a breast pleomorphic lobular carcinoma sample; somatic mutation).		protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L560L(1)|p.L560F(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)	CGTTTCCCCTCAAGACTCCAC	0.547			"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				34	45					0	0	0	0	G	29519891	C	G	29519891	3	3	434	1	0	0	0	0	1	0	0	0	525	825	29	2	3266	2	ALK	2	29519891	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08		29519891	213679482	13	85631											
EIF2AK3	9451	broad.mit.edu	37	chr2	88858450	88858450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catacctcacaaggatatttCtgagtaaataatggtggaaa	16	11	8	6	0	2	1	1	1	1	0	2	3	2	3	1	3	1	1	1	3	7	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:88858450C>T	ENST00000303236.3	-	16	3436	c.3135G>A	c.(3133-3135)caG>caA	p.Q1045Q	EIF2AK3_ENST00000419748.1_Silent_p.Q894Q|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1045	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAGGATATTTCTGAGTAAATA	0.313													15	16					0	0	0	0	T	88858450	C	T	88858450	2	4	434	1	0	0	0	0	0	0	0	1	5034	912	32	2		2	EIF2AK3	2	88858450	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	59338559	88858450	154340923	14	85632											
GCC2	9648	broad.mit.edu	37	chr2	109098191	109098191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagcagtcagagcaactGgatgtggaaaaagaacgtgc	17	5	13	6	1	1	2	1	0	0	2	1	5	1	4	0	2	5	2	0	2	6	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:109098191G>A	ENST00000309863.6	+	10	3813	c.3099G>A	c.(3097-3099)ctG>ctA	p.L1033L		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1033					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CAGAGCAACTGGATGTGGAAA	0.303													10	37					0	0	0	0	A	109098191	G	A	109098191	2	1	434	1	0	0	0	0	0	0	0	1	6335	1335	47	4		4	GCC2	2	109098191	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	20239741	109098191	134101182	15	85633											
GPR17	2840	broad.mit.edu	37	chr2	128408482	128408482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctctgtggcttttcatccGagaccacaagtccgggaccc	7	9	11	14	2	2	1	1	0	1	1	4	3	4	2	4	3	0	2	4	3	1	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:128408482G>A	ENST00000544369.1	+	4	868	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	GPR17_ENST00000393018.3_Missense_Mutation_p.R86Q|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.R86Q|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	86						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CTTTTCATCCGAGACCACAAG	0.587													83	84					0	0	0	0	A	128408482	G	A	128408482	3	1	434	1	0	0	0	0	1	0	0	0	6716	1058	37	1	263	1	GPR17	2	128408482	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	19310291	128408482	114790891	16	85634											
SCN3A	6328	broad.mit.edu	37	chr2	166020938	166020938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccagccagttccatGgatcacgaagaaacgtaaaa	17	7	8	9	2	1	2	1	1	0	1	3	4	3	3	3	1	2	2	3	1	5	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:166020938G>A	ENST00000360093.3	-	6	1057	c.566C>T	c.(565-567)cCa>cTa	p.P189L	SCN3A_ENST00000283254.7_Missense_Mutation_p.P189L|SCN3A_ENST00000409101.3_Missense_Mutation_p.P189L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	189						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCAGTTCCATGGATCACGAAG	0.378													14	38					0	0	0	0	A	166020938	G	A	166020938	3	1	434	1	0	0	0	0	1	0	0	0	14005	1348	47	4	5624	4	SCN3A	2	166020938	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	37612456	166020938	77178435	17	85635											
XIRP2	129446	broad.mit.edu	37	chr2	168067319	168067319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgagggtgtgtcagacCtccacgaagtggtctccctg	6	8	16	11	2	2	1	1	0	1	1	4	3	3	1	3	4	0	0	3	4	1	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:168067319C>T	ENST00000409195.1	+	4	726	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	XIRP2_ENST00000409728.1_Missense_Mutation_p.L246F|XIRP2_ENST00000409043.1_Missense_Mutation_p.L213F|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.L246F|XIRP2_ENST00000409756.2_Missense_Mutation_p.L213F|XIRP2_ENST00000295237.9_Missense_Mutation_p.L213F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	38					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTGTCAGACCTCCACGAAGT	0.562													37	92					0	0	0	0	T	168067319	C	T	168067319	3	4	434	1	0	0	0	0	1	0	0	0	17526	681	24	4	647	4	XIRP2	2	168067319	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	2046381	168067319	75132054	18	85636											
CIR1	9541	broad.mit.edu	37	chr2	175213705	175213705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgtttttctttcttttcttCctttgtatttttttttcttt	1	32	2	6	0	4	0	0	0	4	0	5	0	5	0	1	0	0	2	1	0	1	14			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:175213705C>G	ENST00000342016.3	-	10	965	c.873G>C	c.(871-873)agG>agC	p.R291S	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	291	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ttcttttcttcctttgtattt	0.383													21	59					0	0	0	0	G	175213705	C	G	175213705	3	3	434	1	0	0	0	0	1	0	0	0	3461	854	30	2	483	2	CIR1	2	175213705	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	7146386	175213705	67985668	19	85637											
HOXD3	3232	broad.mit.edu	37	chr2	177036368	177036368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgctacttgtgccggcCgcgccgcgtggagatggcca	6	6	14	15	6	0	1	0	0	0	1	0	2	0	1	5	3	3	1	5	3	2	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:177036368C>A	ENST00000468418.3	+	4	2755	c.665C>A	c.(664-666)cCg>cAg	p.P222Q	HOXD3_ENST00000249440.3_Missense_Mutation_p.P222Q|HOXD3_ENST00000410016.1_Missense_Mutation_p.P222Q			P31249	HXD3_HUMAN	homeobox D3	222					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TTGTGCCGGCCGCGCCGCGTG	0.597													24	142					1.10923e-09	1.20323e-09	1	0	A	177036368	C	A	177036368	3	1	434	1	0	0	0	0	1	0	0	0	7373	652	23	3	671	3	HOXD3	2	177036368	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	1822663	177036368	66163005	20	85638											
AOX1	316	broad.mit.edu	37	chr2	201499611	201499611	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaatggatgtctacgtGtccacacagtttcccaaata	14	10	7	10	1	1	1	0	0	1	1	3	2	3	2	2	1	1	1	2	1	5	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:201499611G>A	ENST00000374700.2	+	21	2560	c.2319G>A	c.(2317-2319)gtG>gtA	p.V773V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	773					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGTCTACGTGTCCACACAGT	0.418													20	70					0	0	0	0	A	201499611	G	A	201499611	2	1	434	1	0	0	0	0	0	0	0	1	730	1364	48	4		4	AOX1	2	201499611	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	24463243	201499611	41699762	21	85639											
ALPP	250	broad.mit.edu	37	chr2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgacagaggctgccctgCgcctgctgagcaggaacccc	9	5	13	14	1	0	4	0	2	0	2	0	5	0	5	4	2	5	3	4	2	1	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:233245422C>T	ENST00000392027.2	+	8	1224	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	319						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCTGCCCTGCGCCTGCTGAG	0.632													11	35					0	0	0	0	T	233245422	C	T	233245422	3	4	434	1	0	0	0	0	1	0	0	0	548	768	27	1	985	1	ALPP	2	233245422	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	31745811	233245422	9953951	22	85640											
COL6A3	1293	broad.mit.edu	37	chr2	238285684	238285684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactccatcctcgatccggCtgccagcagacttcacaaaa	11	7	7	16	2	1	1	1	0	0	1	5	2	4	1	4	1	2	3	4	1	2	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:238285684C>T	ENST00000295550.4	-	7	3253	c.2801G>A	c.(2800-2802)aGc>aAc	p.S934N	COL6A3_ENST00000472056.1_Missense_Mutation_p.S327N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S728N|COL6A3_ENST00000392003.2_Missense_Mutation_p.S527N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S728N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S733N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S734N|COL6A3_ENST00000392004.3_Missense_Mutation_p.S728N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	934	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGATCCGGCTGCCAGCAGA	0.542													24	56					0	0	0	0	T	238285684	C	T	238285684	3	4	434	1	0	0	0	0	1	0	0	0	3731	797	28	4	6931	4	COL6A3	2	238285684	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	5040262	238285684	4913689	23	85641											
CRBN	51185	broad.mit.edu	37	chr3	3215894	3215894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaatcacctgacagctgtCgtcatcgtgcaaagtcctgc	9	10	10	12	2	2	1	2	1	0	0	5	2	3	2	2	1	3	2	2	1	2	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:3215894C>T	ENST00000231948.4	-	3	248	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CRBN_ENST00000432408.2_Missense_Mutation_p.D75N	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	76					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		TGACAGCTGTCGTCATCGTGC	0.398													14	38					0	0	0	0	T	3215894	C	T	3215894	3	4	434	1	0	0	0	0	1	0	0	0	3881	884	31	1	1138	1	CRBN	3	3215894	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08		3215894	194806536	24	85642											
MKRN2	23609	broad.mit.edu	37	chr3	12623356	12623356	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggggacctgcccatttGgaagcaaatgtctttatcgc	10	10	11	10	1	1	0	0	0	1	0	2	2	1	2	2	3	2	2	2	3	4	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:12623356G>T	ENST00000170447.7	+	7	1155	c.1018G>T	c.(1018-1020)Gga>Tga	p.G340*	MKRN2_ENST00000448482.1_Nonsense_Mutation_p.G338*|MKRN2_ENST00000411987.1_Nonsense_Mutation_p.G297*	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	340						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CTGCCCATTTGGAAGCAAATG	0.498													11	104					0.000673444	0.000687773	1	0	T	12623356	G	T	12623356	4	4	434	1	0	0	0	0	0	1	0	0	9676	1349	47	4	1044	4	MKRN2	3	12623356	Nonsense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	9407462	12623356	185399074	25	85643											
MST1	4485	broad.mit.edu	37	chr3	49723034	49723034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcactagtgctcaccgcagCgtcgcagggcacagtagtcg	8	7	13	13	4	2	0	2	0	0	0	4	0	2	0	1	1	2	5	1	1	2	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:49723034C>T	ENST00000449682.2	-	11	1743	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	447					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCACCGCAGCGTCGCAGGGC	0.602													15	36					0	0	0	0	T	49723034	C	T	49723034	3	4	434	1	0	0	0	0	1	0	0	0	9960	768	27	1	827	1	MST1	3	49723034	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	37099678	49723034	148299396	26	85644											
RBM5	10181	broad.mit.edu	37	chr3	50147090	50147090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccagagtcctcagctgtAtaatcaaacctccaatccac	12	9	5	15	0	2	1	2	0	0	1	6	1	6	1	5	0	2	2	5	0	4	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:50147090A>G	ENST00000347869.3	+	15	1422	c.1247A>G	c.(1246-1248)tAt>tGt	p.Y416C	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	416	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTCAGCTGTATAATCAAACC	0.473													54	102					0	0	0	0	G	50147090	A	G	50147090	3	3	434	1	0	0	0	0	1	0	0	0	13225	449	16	5	1301	5	RBM5	3	50147090	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	424056	50147090	147875340	27	85645											
CACNA1D	776	broad.mit.edu	37	chr3	53781384	53781384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtcctgtggtccgtgaaCggatctggcaaaacagtgat	11	9	12	9	2	1	2	0	2	1	0	3	3	3	3	2	3	2	1	2	3	3	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:53781384C>T	ENST00000288139.3	+	27	3401	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1075W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1075W	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1075	Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGTCCGTGAACGGATCTGGCA	0.517													23	72					0	0	0	0	T	53781384	C	T	53781384	3	4	434	1	0	0	0	0	1	0	0	0	2566	527	19	1	3497	1	CACNA1D	3	53781384	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	3634294	53781384	144241046	28	85646											
CCDC66	285331	broad.mit.edu	37	chr3	56649288	56649288	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacacttctagactgattAaaaatcttggtggtaagggc	13	12	10	6	0	2	3	0	2	2	1	2	3	2	3	0	3	0	1	0	3	5	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:56649288A>T	ENST00000394672.3	+	12	1769	c.1699A>T	c.(1699-1701)Aaa>Taa	p.K567*	CCDC66_ENST00000436465.2_Nonsense_Mutation_p.K567*|CCDC66_ENST00000326595.7_Nonsense_Mutation_p.K533*	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	567										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TAGACTGATTAAAAATCTTGG	0.368													25	32					0	0	0	0	T	56649288	A	T	56649288	4	4	434	1	0	0	0	0	0	1	0	0	2865	363	13	5	1745	5	CCDC66	3	56649288	Nonsense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	2867904	56649288	141373142	29	85647											
PEX5L	51555	broad.mit.edu	37	chr3	179526210	179526210	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagatataattccttcacCccttccagaacagagctaca	13	10	4	14	0	1	3	1	0	0	3	4	3	4	3	5	0	3	1	5	0	4	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:179526210C>A	ENST00000467460.1	-	13	1698	c.1368G>T	c.(1366-1368)ggG>ggT	p.G456G	PEX5L_ENST00000485199.1_Silent_p.G421G|PEX5L_ENST00000464614.1_Silent_p.G348G|PEX5L_ENST00000465751.1_Silent_p.G432G|PEX5L_ENST00000392649.3_Silent_p.G348G|PEX5L_ENST00000263962.8_Silent_p.G454G|PEX5L_ENST00000476138.1_Silent_p.G413G|PEX5L_ENST00000472994.1_Silent_p.G397G|PEX5L_ENST00000468741.1_Silent_p.G264G|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	456					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTCCTTCACCCCTTCCAGAA	0.398													17	110					0.006122	0.00621918	1	0	A	179526210	C	A	179526210	2	1	434	1	0	0	0	0	0	0	0	1	11821	610	22	4		4	PEX5L	3	179526210	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	122876922	179526210	18496220	30	85648											
ATP13A4	84239	broad.mit.edu	37	chr3	193120622	193120622	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaacatcttttaatcatcAtccacagggctcgattttca	12	13	5	11	2	4	0	3	0	1	0	6	2	5	0	1	1	1	1	1	1	2	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:193120622A>C	ENST00000342695.4	-	30	3732	c.3410T>G	c.(3409-3411)aTg>aGg	p.M1137R	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.M153R|ATP13A4_ENST00000392443.3_Missense_Mutation_p.M1118R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1137					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTAATCATCATCCACAGGGC	0.448													10	65					0	0	0	0	C	193120622	A	C	193120622	3	2	434	1	0	0	0	0	1	0	0	0	1130	217	8	5	184	5	ATP13A4	3	193120622	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	13594412	193120622	4901808	31	85649											
FYTTD1	84248	broad.mit.edu	37	chr3	197497115	197497115	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctagccagctaagcagaaAgtaagtgctcaaaaataata	19	7	7	8	0	1	1	1	0	0	1	1	1	1	1	2	0	4	4	2	0	8	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:197497115A>G	ENST00000428395.2	+	5	657	c.224_splice	c.e5+1	p.K75_splice	FYTTD1_ENST00000241502.3_Splice_Site_p.K166_splice|FYTTD1_ENST00000415708.2_Splice_Site_p.K140_splice|FYTTD1_ENST00000424384.2_Splice_Site_p.K99_splice	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	166					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CTAAGCAGAAAGTAAGTGCTC	0.363													13	39					0	0	0	0	G	197497115	A	G	197497115	5	3	434	1	0	0	0	0	0	0	1	0	6175	86	3	5	540	5	FYTTD1	3	197497115	Splice_Site	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	4376493	197497115	525315	32	85650											
CWH43	80157	broad.mit.edu	37	chr4	49000548	49000548	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtttcgtggtactggttTgatctggtgggttacaggta	5	16	16	4	1	1	1	0	1	1	0	2	1	1	1	0	6	2	5	0	6	3	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:49000548T>G	ENST00000226432.4	+	6	968	c.785T>G	c.(784-786)tTg>tGg	p.L262W	CWH43_ENST00000513409.1_Missense_Mutation_p.L235W	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	262					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGTACTGGTTTGATCTGGTGG	0.458													13	88					0	0	0	0	G	49000548	T	G	49000548	3	3	434	1	0	0	0	0	1	0	0	0	4105	1821	63	5	807	5	CWH43	4	49000548	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08		49000548	142153728	33	85651											
LPHN3	23284	broad.mit.edu	37	chr4	62598610	62598610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgccctggactccctacaGaactgataccctgactgagt	10	10	8	13	0	0	4	0	3	0	1	1	5	1	5	3	1	4	0	3	1	4	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:62598610G>C	ENST00000512091.1	+	7	1280	c.533G>C	c.(532-534)aGa>aCa	p.R178T	LPHN3_ENST00000506700.1_Missense_Mutation_p.R178T|LPHN3_ENST00000507625.1_Missense_Mutation_p.R246T|LPHN3_ENST00000514591.1_Missense_Mutation_p.R178T|LPHN3_ENST00000508693.1_Missense_Mutation_p.R246T|LPHN3_ENST00000507164.1_Missense_Mutation_p.R246T|LPHN3_ENST00000514157.1_Missense_Mutation_p.R178T|LPHN3_ENST00000506720.1_Missense_Mutation_p.R246T|LPHN3_ENST00000506746.1_Missense_Mutation_p.R246T|LPHN3_ENST00000511324.1_Missense_Mutation_p.R246T|LPHN3_ENST00000508946.1_Missense_Mutation_p.R178T|LPHN3_ENST00000509896.1_Missense_Mutation_p.R246T|LPHN3_ENST00000545650.1_Missense_Mutation_p.R178T|LPHN3_ENST00000504896.1_Missense_Mutation_p.R178T|LPHN3_ENST00000514996.1_Missense_Mutation_p.R178T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	178	Olfactomedin-like.				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						ACTCCCTACAGAACTGATACC	0.483													15	43					0	0	0	0	C	62598610	G	C	62598610	3	2	434	1	0	0	0	0	1	0	0	0	8981	942	33	2	551	2	LPHN3	4	62598610	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	13598062	62598610	128555666	34	85652											
TECRL	253017	broad.mit.edu	37	chr4	65145895	65145895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaagacatctggatactCatcagaagtgtaaaaattcc	17	9	6	9	0	3	2	2	0	1	2	4	3	4	3	1	1	1	1	1	1	6	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:65145895C>T	ENST00000381210.3	-	12	1097	c.987G>A	c.(985-987)atG>atA	p.M329I	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	329					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTGGATACTCATCAGAAGTG	0.274													6	25					0	0	0	0	T	65145895	C	T	65145895	3	4	434	1	0	0	0	0	1	0	0	0	15840	826	29	2	108	2	TECRL	4	65145895	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	2547285	65145895	126008381	35	85653											
FRAS1	80144	broad.mit.edu	37	chr4	79400835	79400835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgatgcctcgactgtgtcCctgggcaacacggctttcac	8	9	10	14	3	1	0	1	0	0	0	3	2	2	0	2	2	3	2	2	2	2	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:79400835C>T	ENST00000264895.6	+	56	8846	c.8406C>T	c.(8404-8406)tcC>tcT	p.S2802S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2797	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGACTGTGTCCCTGGGCAACA	0.532													12	24					0	0	0	0	T	79400835	C	T	79400835	2	4	434	1	0	0	0	0	0	0	0	1	6089	610	22	4		4	FRAS1	4	79400835	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	14254940	79400835	111753441	36	85654											
PAPSS1	9061	broad.mit.edu	37	chr4	108566209	108566209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcactgggttgcgtagttGaaatgcaaagacagcatctg	11	10	13	7	1	1	2	0	1	1	1	1	2	1	2	0	1	4	6	0	1	3	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:108566209G>C	ENST00000265174.4	-	10	1527	c.1255C>G	c.(1255-1257)Caa>Gaa	p.Q419E		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	419					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTGCGTAGTTGAAATGCAAAG	0.433													15	42					0	0	0	0	C	108566209	G	C	108566209	3	2	434	1	0	0	0	0	1	0	0	0	11505	1299	45	2	631	2	PAPSS1	4	108566209	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	29165374	108566209	82588067	37	85655											
TRPC3	7222	broad.mit.edu	37	chr4	122824075	122824075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccttctgcatttgggaaAgttaacaattcgcatgatga	11	14	8	8	1	2	2	0	2	2	0	4	3	2	3	1	1	2	3	1	1	3	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:122824075A>G	ENST00000264811.5	-	8	2594	c.2176T>C	c.(2176-2178)Ttt>Ctt	p.F726L	TRPC3_ENST00000513531.1_Missense_Mutation_p.F671L|TRPC3_ENST00000379645.3_Missense_Mutation_p.F799L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	714					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATTTGGGAAAGTTAACAATT	0.368													3	48					0	0	0	0	G	122824075	A	G	122824075	3	3	434	1	0	0	0	0	1	0	0	0	16674	72	3	5	386	5	TRPC3	4	122824075	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	14257866	122824075	68330201	38	85656											
LARP1B	55132	broad.mit.edu	37	chr4	129131155	129131155	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtgagcttcaggtaccaAtaaactctcccagaaggaat	14	8	8	11	0	2	2	1	1	1	1	3	3	2	3	3	2	3	2	3	2	6	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:129131155A>T	ENST00000326639.6	+	20	2903	c.2692A>T	c.(2692-2694)Ata>Tta	p.I898L	LARP1B_ENST00000264584.5_Missense_Mutation_p.I839L|LARP1B_ENST00000506199.1_Intron|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000354456.3_Intron	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	898							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCAGGTACCAATAAACTCTCC	0.448													35	325					0	0	0	0	T	129131155	A	T	129131155	3	4	434	1	0	0	0	0	1	0	0	0	8682	101	4	5	2896	5	LARP1B	4	129131155	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	6307080	129131155	62023121	39	85657											
POU4F2	5458	broad.mit.edu	37	chr4	147561255	147561255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacgcaccaccaccaccaCcatcaccaccaccaccacca	13	1	3	24	1	1	0	1	0	0	0	1	0	1	0	10	1	0	2	10	1	0	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:147561255C>T	ENST00000281321.3	+	2	773	c.525C>T	c.(523-525)caC>caT	p.H175H		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	175	Poly-His.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					accaccaccaccatcaccacc	0.682													3	28					0	0	0	0	T	147561255	C	T	147561255	2	4	434	1	0	0	0	0	0	0	0	1	12350	506	18	4		4	POU4F2	4	147561255	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	18430100	147561255	43593021	40	85658											
FGG	2266	broad.mit.edu	37	chr4	155529728	155529728	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaaaattctgttgtgccAgtaggagacagatgtccaaa	14	9	10	8	0	1	2	0	0	1	2	2	3	2	2	3	1	2	2	3	1	4	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:155529728A>G	ENST00000404648.3	-	7	980	c.741T>C	c.(739-741)acT>acC	p.T247T	FGG_ENST00000407946.1_Silent_p.T255T|FGG_ENST00000336098.3_Silent_p.T247T|FGG_ENST00000405164.1_Silent_p.T255T	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	247	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTTGTGCCAGTAGGAGACA	0.388													13	60					0	0	0	0	G	155529728	A	G	155529728	2	3	434	1	0	0	0	0	0	0	0	1	5915	175	7	5		5	FGG	4	155529728	Silent	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	7968473	155529728	35624548	41	85659											
CWC27	10283	broad.mit.edu	37	chr5	64077858	64077858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctatggagcgccattcAaagtaagactgaattattat	14	13	7	7	1	2	2	1	1	1	1	2	3	2	3	1	1	1	1	1	1	7	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:64077858A>G	ENST00000508024.1	+	3	451	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	CWC27_ENST00000381070.3_Missense_Mutation_p.K84E			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	84	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCGCCATTCAAAGTAAGACT	0.363													11	18					0	0	0	0	G	64077858	A	G	64077858	3	3	434	1	0	0	0	0	1	0	0	0	4102	131	5	5	260	5	CWC27	5	64077858	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08		64077858	116837402	42	85660											
TGFBI	7045	broad.mit.edu	37	chr5	135385250	135385250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgaaccgtatcctgggCgacccagaagccctgagagg	10	7	12	12	2	0	3	0	2	0	2	1	5	1	3	4	2	2	1	4	2	3	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:135385250C>T	ENST00000442011.2	+	7	1055	c.894C>T	c.(892-894)ggC>ggT	p.G298G	TGFBI_ENST00000305126.8_Silent_p.G298G	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	298	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	p.G298G(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTATCCTGGGCGACCCAGAAG	0.542													3	24					0	0	0	0	T	135385250	C	T	135385250	2	4	434	1	0	0	0	0	0	0	0	1	15914	755	27	1		1	TGFBI	5	135385250	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	71307392	135385250	45530010	43	85661											
PCDHA3	56145	broad.mit.edu	37	chr5	140182141	140182141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgaacgacaatgcgccGgcattctcgcagtccgagta	10	7	12	12	6	1	1	0	1	1	0	3	4	2	1	2	1	2	3	2	1	3	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:140182141G>A	ENST00000522353.2	+	1	1359	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.P453P|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCGCCGGCATTCTCGC	0.662													4	165					0	0	0	0	A	140182141	G	A	140182141	2	1	434	1	0	0	0	0	0	0	0	1	11596	1103	39	1		1	PCDHA3	5	140182141	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	4796891	140182141	40733119	44	85662											
PCDH1	5097	broad.mit.edu	37	chr5	141243498	141243498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctgtgccatagcgtggggGcttgccgcggtcactgacct	4	9	16	12	3	1	1	1	1	0	0	1	1	1	1	3	4	3	2	3	4	1	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:141243498G>T	ENST00000287008.3	-	3	2545	c.2398C>A	c.(2398-2400)Ccc>Acc	p.P800T	PCDH1_ENST00000456271.1_Missense_Mutation_p.P788T|PCDH1_ENST00000536585.1_Missense_Mutation_p.P778T|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.P800T	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	800	Cadherin 7.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TAGCGTGGGGGCTTGCCGCGG	0.617													36	42					3.86903e-22	4.55738e-22	1	0	T	141243498	G	T	141243498	3	4	434	1	0	0	0	0	1	0	0	0	11577	1203	42	4	1411	4	PCDH1	5	141243498	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1061357	141243498	39671762	45	85663											
DRD1	1812	broad.mit.edu	37	chr5	174869953	174869953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggaccgcaggtgtcggaaCctgataacggcagcacagac	11	6	13	11	3	0	2	0	1	0	1	1	4	0	4	2	4	3	3	2	4	2	2	rs5330		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:174869953C>G	ENST00000393752.2	-	2	1142	c.150G>C	c.(148-150)agG>agC	p.R50S		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	50			R -> S (in dbSNP:rs5330).		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GGTGTCGGAACCTGATAACGG	0.572													19	68					0	0	0	0	G	174869953	C	G	174869953	3	3	434	1	0	0	0	0	1	0	0	0	4792	506	18	4	1194	4	DRD1	5	174869953	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	33626455	174869953	6045307	46	85664											
HIST1H2BL	8340	broad.mit.edu	37	chr6	27775416	27775416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggatctccctggaggtgAtggtcgagcgcttgttgtag	5	13	15	8	2	2	1	0	1	2	0	4	4	2	3	1	4	1	3	1	4	1	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:27775416A>G	ENST00000377401.2	-	1	293	c.269T>C	c.(268-270)aTc>aCc	p.I90T		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	90					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CCTGGAGGTGATGGTCGAGCG	0.627													48	130					0	0	0	0	G	27775416	A	G	27775416	3	3	434	1	0	0	0	0	1	0	0	0	7201	333	12	5	115	5	HIST1H2BL	6	27775416	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08		27775416	143339651	47	85665											
OR2W1	26692	broad.mit.edu	37	chr6	29012233	29012233	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtaagatgagatccacaGgtattcattgcttttcgctg	11	13	9	8	1	1	2	1	1	0	2	3	3	2	2	1	1	1	4	1	1	2	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:29012233G>C	ENST00000377175.1	-	1	784	c.720C>G	c.(718-720)acC>acG	p.T240T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GAGATCCACAGGTATTCATTG	0.438													35	123					0	0	0	0	C	29012233	G	C	29012233	2	2	434	1	0	0	0	0	0	0	0	1	11103	987	35	4		4	OR2W1	6	29012233	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1236817	29012233	142102834	48	85666											
EHMT2	10919	broad.mit.edu	37	chr6	31856267	31856267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcccgcttgaggatggcgGcattgcagcctgacagctgt	6	10	13	12	2	1	2	0	2	1	0	2	3	1	3	2	3	3	4	2	3	0	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:31856267G>A	ENST00000395728.3	-	11	1552	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	EHMT2_ENST00000375528.4_Missense_Mutation_p.A484V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A427V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.A461V			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	461					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGGATGGCGGCATTGCAGCC	0.662													3	35					0	0	0	0	A	31856267	G	A	31856267	3	1	434	1	0	0	0	0	1	0	0	0	5020	1203	42	4	2318	4	EHMT2	6	31856267	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	2844034	31856267	139258800	49	85667											
MOCS1	4337	broad.mit.edu	37	chr6	39874632	39874632	+	Missense_Mutation	SNP	G	G	A																															ttagctggggtcctgaggggGcagcagaagcccaggaacct																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:39874632G>A	ENST00000308559.7	-	10	1497	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.A471V|MOCS1_ENST00000340692.5_Missense_Mutation_p.A471V|MOCS1_ENST00000373195.3_Missense_Mutation_p.A368V			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	471	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCCTGAGGGGGCAGCAGAAGC	0.582													28	81					0	0	0	0	A	39874632	G	A	39874632	3	1	434	1	0	0	0	0	1	0	0	0	9760	1218	42	4		4	MOCS1	6	39874632	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	8018365	39874632	131240435	50	85668	1075	2									
MOCS1	4337	broad.mit.edu	37	chr6	39874633	39874633	+	Missense_Mutation	SNP	C	C	A																															tagctggggtcctgagggggCagcagaagcccaggaacctg																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:39874633C>A	ENST00000308559.7	-	10	1496	c.1363G>T	c.(1363-1365)Gcc>Tcc	p.A455S	MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.A471S|MOCS1_ENST00000340692.5_Missense_Mutation_p.A471S|MOCS1_ENST00000373195.3_Missense_Mutation_p.A368S			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	471	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTGAGGGGGCAGCAGAAGCC	0.582													28	80					7.26314e-15	8.15511e-15	1	0	A	39874633	C	A	39874633	3	1	434	1	0	0	0	0	1	0	0	0	9760	725	25	4		4	MOCS1	6	39874633	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	1	39874633	131240434	51	85669	1075	2									
PHIP	55023	broad.mit.edu	37	chr6	79708024	79708024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccagaacgtctcaggTcttgctcctgttgtagtctt	6	15	8	12	1	4	1	2	0	3	1	6	1	5	1	2	1	2	3	2	1	2	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:79708024T>C	ENST00000275034.4	-	18	2131	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	655					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACGTCTCAGGTCTTGCTCCTG	0.388													14	31					0	0	0	0	C	79708024	T	C	79708024	3	2	434	1	0	0	0	0	1	0	0	0	11914	1667	58	5	3593	5	PHIP	6	79708024	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	39833391	79708024	91407043	52	85670											
CYB5R4	51167	broad.mit.edu	37	chr6	84665107	84665107	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcttctttctgaatttttGaaaagaaatttggacaaatc	13	16	6	6	0	3	3	0	2	3	1	4	4	3	4	0	1	0	1	0	1	5	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:84665107G>A	ENST00000369681.4	+	15	1577	c.1437G>A	c.(1435-1437)ttG>ttA	p.L479L		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	479					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTGAATTTTTGAAAAGAAATT	0.393													24	46					0	0	0	0	A	84665107	G	A	84665107	2	1	434	1	0	0	0	0	0	0	0	1	4161	1281	45	2		2	CYB5R4	6	84665107	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	4957083	84665107	86449960	53	85671											
SLC22A16	85413	broad.mit.edu	37	chr6	110777855	110777855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttccactgggtcaccGcagtgcttttccatgtgttc	5	13	10	13	1	1	0	1	0	0	0	4	0	3	0	4	2	1	4	4	2	0	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:110777855G>A	ENST00000368919.3	-	2	485	c.419C>T	c.(418-420)gCg>gTg	p.A140V	SLC22A16_ENST00000439654.1_Missense_Mutation_p.A140V|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.A140V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.A106V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	140					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTGGGTCACCGCAGTGCTTTT	0.478													4	100					0	0	0	0	A	110777855	G	A	110777855	3	1	434	1	0	0	0	0	1	0	0	0	14535	1087	38	1	1342	1	SLC22A16	6	110777855	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	26112748	110777855	60337212	54	85672											
TIAM2	26230	broad.mit.edu	37	chr6	155572056	155572057	+	Frame_Shift_Ins	INS	-	-	T																															tacaatctaggtaacagaacINStttcgatgggagagcttctg																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:155572056_155572057insT	ENST00000461783.3	+	24	5234_5235	c.3961_3962insT	c.(3961-3963)ttcfs	p.F1321fs	TIAM2_ENST00000318981.5_Frame_Shift_Ins_p.F1321fs|TIAM2_ENST00000360366.4_Frame_Shift_Ins_p.F1345fs|TIAM2_ENST00000367174.2_Frame_Shift_Ins_p.F697fs|TIAM2_ENST00000456144.1_Frame_Shift_Ins_p.F1350fs|TIAM2_ENST00000528391.2_Frame_Shift_Ins_p.F657fs|TIAM2_ENST00000275246.7_Frame_Shift_Ins_p.F246fs|TIAM2_ENST00000529824.2_Frame_Shift_Ins_p.F1350fs|TIAM2_ENST00000456877.2_Frame_Shift_Ins_p.F633fs			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1321					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGTAACAGAACTTTCGATGGGA	0.421													45	66	---	---	---	---					T	155572057	-	T	155572056	7	5	434	1	0	1	1	0	0	0	0	0	15985	565	20	0	4035	0	TIAM2	6	155572056	Frame_Shift_Ins	INS	-	TCGA-IQ-A61G-01A-11D-A30E-08	44794201	155572056	15543011	55	85673											
CDCA7L	55536	broad.mit.edu	37	chr7	21956456	21956456	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatcatctcggaagccAacaaactcttcatcatcact	14	9	5	13	1	6	0	4	0	2	0	7	2	6	2	1	2	4	0	1	2	4	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:21956456A>G	ENST00000406877.3	-	2	360	c.81T>C	c.(79-81)gtT>gtC	p.V27V	CDCA7L_ENST00000373934.4_Silent_p.V27V|CDCA7L_ENST00000356195.5_5'UTR|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	27					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTCGGAAGCCAACAAACTCTT	0.463													29	231					0	0	0	0	G	21956456	A	G	21956456	2	3	434	1	0	0	0	0	0	0	0	1	3120	117	5	5		5	CDCA7L	7	21956456	Silent	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08		21956456	137182207	56	85674											
ZNF479	90827	broad.mit.edu	37	chr7	57188621	57188621	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctattggaatttgaaaatttAccaaagactttgacatattt	15	16	5	5	0	0	3	0	2	0	1	0	4	0	4	1	1	1	0	1	1	7	8			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:57188621A>G	ENST00000331162.4	-	5	771	c.501T>C	c.(499-501)ggT>ggC	p.G167G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTGAAAATTTACCAAAGACTT	0.299													8	24					0	0	0	0	G	57188621	A	G	57188621	2	3	434	1	0	0	0	0	0	0	0	1	18028	378	14	5		5	ZNF479	7	57188621	Silent	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	35232165	57188621	101950042	57	85675											
GRM3	2913	broad.mit.edu	37	chr7	86468447	86468447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctgtgaaccctacgaataCctggctgatgagtttacctg	9	11	9	12	1	0	3	0	3	0	0	0	4	0	3	4	1	4	2	4	1	5	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:86468447C>T	ENST00000361669.2	+	4	2716	c.1617C>T	c.(1615-1617)taC>taT	p.Y539Y	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Silent_p.Y411Y|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.Y131Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	539					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCTACGAATACCTGGCTGATG	0.532													77	70					0	0	0	0	T	86468447	C	T	86468447	2	4	434	1	0	0	0	0	0	0	0	1	6848	518	18	4		4	GRM3	7	86468447	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	29279826	86468447	72670216	58	85676											
CDK14	5218	broad.mit.edu	37	chr7	90528663	90528663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggctgcatccagataatGtgaaggtaggaaaagatctt	13	9	14	5	0	1	3	0	1	1	2	2	4	2	4	1	4	1	3	1	4	5	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:90528663G>A	ENST00000406263.1	+	6	1001	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	CDK14_ENST00000265741.3_Missense_Mutation_p.V215M|CDK14_ENST00000436577.2_Missense_Mutation_p.V104M|CDK14_ENST00000380050.3_Missense_Mutation_p.V233M			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	233	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCCAGATAATGTGAAGGTAGG	0.358													4	10					0	0	0	0	A	90528663	G	A	90528663	3	1	434	1	0	0	0	0	1	0	0	0	3159	1377	48	4	665	4	CDK14	7	90528663	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	4060216	90528663	68610000	59	85677											
STAG3	10734	broad.mit.edu	37	chr7	99808698	99808698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtctgcagctgaacagCatcccgcccacgcccaccct	10	5	8	18	2	1	1	0	1	1	0	2	2	2	1	4	0	4	3	4	0	2	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:99808698C>T	ENST00000426455.1	+	30	3710	c.3303C>T	c.(3301-3303)agC>agT	p.S1101S	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.S1101S|STAG3_ENST00000394018.2_Silent_p.S1043S			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1101					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTGAACAGCATCCCGCCCA	0.577													33	77					0	0	0	0	T	99808698	C	T	99808698	2	4	434	1	0	0	0	0	0	0	0	1	15334	709	25	4		4	STAG3	7	99808698	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	9280035	99808698	59329965	60	85678											
GRM8	2918	broad.mit.edu	37	chr7	126086270	126086270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgctttgcatggtggCagctgtcaccacagccttga	7	12	11	11	0	1	1	1	1	0	0	1	1	1	1	2	2	4	5	2	2	0	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:126086270C>A	ENST00000339582.2	-	10	3395	c.2587G>T	c.(2587-2589)Gcc>Tcc	p.A863S	GRM8_ENST00000358373.3_Missense_Mutation_p.A863S|GRM8_ENST00000444921.2_Missense_Mutation_p.A863S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	863					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGCATGGTGGCAGCTGTCACC	0.423										HNSCC(24;0.065)			35	110					1.836e-18	2.13644e-18	1	0	A	126086270	C	A	126086270	3	1	434	1	0	0	0	0	1	0	0	0	6853	710	25	4	197	4	GRM8	7	126086270	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	26277572	126086270	33052393	61	85679											
GRM8	2918	broad.mit.edu	37	chr7	126173748	126173748	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagcctgtgcggttcatgTtgggtctctgatccagaggg	5	11	16	9	1	2	2	1	1	1	1	4	2	3	2	2	4	2	3	2	4	0	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:126173748T>A	ENST00000339582.2	-	9	2496	c.1688A>T	c.(1687-1689)aAc>aTc	p.N563I	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.N563I|GRM8_ENST00000444921.2_Missense_Mutation_p.N563I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	563					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCGGTTCATGTTGGGTCTCTG	0.522										HNSCC(24;0.065)			32	70					0	0	0	0	A	126173748	T	A	126173748	3	1	434	1	0	0	0	0	1	0	0	0	6853	1725	60	5	1100	5	GRM8	7	126173748	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	87478	126173748	32964915	62	85680											
RBM28	55131	broad.mit.edu	37	chr7	127953234	127953234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagaactcacctgctcGgacgataattgctgcttctc	8	11	8	14	2	2	1	1	0	1	1	4	3	2	2	2	1	5	4	2	1	2	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:127953234G>A	ENST00000223073.1	-	18	2253	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Silent_p.S572S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	713					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCACCTGCTCGGACGATAATT	0.473													4	154					0	0	0	0	A	127953234	G	A	127953234	2	1	434	1	0	0	0	0	0	0	0	1	13210	1103	39	1		1	RBM28	7	127953234	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1779486	127953234	31185429	63	85681											
PAXIP1	22976	broad.mit.edu	37	chr7	154746133	154746133	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaagaatgtagagctTctaaaggtcacaaacacagg	16	7	8	10	0	2	2	1	0	1	2	3	2	3	2	2	2	2	2	2	2	6	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:154746133T>C	ENST00000404141.1	-	16	2807	c.2652_splice	c.e16-1	p.K885_splice	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Splice_Site_p.K885_splice			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	885	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATGTAGAGCTTCTAAAGGTCA	0.483													7	25					0	0	0	0	C	154746133	T	C	154746133	5	2	434	1	0	0	0	0	0	0	1	0	11558	1797	62	5	580	5	PAXIP1	7	154746133	Splice_Site	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	26792899	154746133	4392530	64	85682											
CDCA2	157313	broad.mit.edu	37	chr8	25319725	25319725	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaagattctccttcccagGtatgattttcttctaagttc	9	16	5	11	0	3	2	0	1	3	1	6	2	4	2	2	1	0	2	2	1	3	8			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:25319725G>T	ENST00000330560.3	+	4	864		c.e4+1		CDCA2_ENST00000380665.3_Splice_Site	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2						cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCCTTCCCAGGTATGATTTTC	0.413													10	30					1.11149e-13	1.24073e-13	1	0	T	25319725	G	T	25319725	5	4	434	1	0	0	0	0	0	0	1	0	3115	1275	44	4	398	4	CDCA2	8	25319725	Splice_Site	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		25319725	121044297	65	85683											
XKR4	114786	broad.mit.edu	37	chr8	56015384	56015384	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgctactcactgtgggactgCctctggatcctggccgccgt	4	10	12	15	3	2	0	1	0	1	0	3	2	3	2	4	3	2	1	4	3	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:56015384C>A	ENST00000327381.5	+	1	436	c.336C>A	c.(334-336)tgC>tgA	p.C112*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	112						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTGGGACTGCCTCTGGATCC	0.751													24	35					3.6726e-16	4.22239e-16	1	0	A	56015384	C	A	56015384	4	1	434	1	0	0	0	0	0	1	0	0	17529	747	26	4	338	4	XKR4	8	56015384	Nonsense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	30695659	56015384	90348638	66	85684											
ZFHX4	79776	broad.mit.edu	37	chr8	77616692	77616692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagttagaggacagtgaCgtggaaaatctaacagggga	15	6	15	5	2	1	2	0	1	1	1	1	6	1	5	0	4	2	1	0	4	4	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:77616692C>T	ENST00000521891.2	+	2	817	c.369C>T	c.(367-369)gaC>gaT	p.D123D	ZFHX4_ENST00000455469.2_Silent_p.D123D|ZFHX4_ENST00000050961.6_Silent_p.D123D|ZFHX4_ENST00000518282.1_Silent_p.D123D|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGACAGTGACGTGGAAAATC	0.493										HNSCC(33;0.089)			65	47					0	0	0	0	T	77616692	C	T	77616692	2	4	434	1	0	0	0	0	0	0	0	1	17730	535	19	1		1	ZFHX4	8	77616692	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	21601308	77616692	68747330	67	85685											
GDF6	392255	broad.mit.edu	37	chr8	97172889	97172889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaactgatgaggaagAcggccgagagcaggaccctg	15	3	14	9	2	0	5	0	2	0	3	0	8	0	7	2	3	2	1	2	3	3	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:97172889A>T	ENST00000287020.5	-	1	131	c.32T>A	c.(31-33)gTc>gAc	p.V11D		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	11					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GATGAGGAAGACGGCCGAGAG	0.667													27	97					0	0	0	0	T	97172889	A	T	97172889	3	4	434	1	0	0	0	0	1	0	0	0	6368	275	10	5	1343	5	GDF6	8	97172889	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	19556197	97172889	49191133	68	85686											
VPS13B	157680	broad.mit.edu	37	chr8	100403871	100403871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtgcccccttggcaaaGcagcaatcatatcaggcctc	11	7	10	13	0	2	0	2	0	0	0	3	1	2	1	3	3	3	3	3	3	4	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:100403871G>T	ENST00000395996.1	+	21	3132	c.3021G>T	c.(3019-3021)aaG>aaT	p.K1007N	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1007N|VPS13B_ENST00000358544.2_Missense_Mutation_p.K1007N			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1007					protein transport			p.K1007K(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTGGCAAAGCAGCAATCAT	0.453													46	60					6.21074e-16	7.09799e-16	1	0	T	100403871	G	T	100403871	3	4	434	1	0	0	0	0	1	0	0	0	17286	962	34	4	3222	4	VPS13B	8	100403871	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	3230982	100403871	45960151	69	85687											
PABPC1	26986	broad.mit.edu	37	chr8	101717845	101717845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcttttgctcttgaggaggGgcagatgccaacatggaagc	9	10	14	8	0	1	2	0	1	1	1	1	4	1	4	1	4	5	3	1	4	2	3	rs138307186		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:101717845G>A	ENST00000318607.5	-	12	2787	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	PABPC1_ENST00000519004.1_Silent_p.A508A|PABPC1_ENST00000522387.1_Silent_p.A521A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	553	PABC.				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			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)			CTTGAGGAGGGGCAGATGCCA	0.428													6	48					0	0	0	0	A	101717845	G	A	101717845	2	1	434	1	0	0	0	0	0	0	0	1	11434	1219	43	4		4	PABPC1	8	101717845	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1313974	101717845	44646177	70	85688											
COLEC10	10584	broad.mit.edu	37	chr8	120118212	120118212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccaagagtggcttctttCgggtgttcattggcgtgaat	6	15	13	7	2	2	2	1	1	1	1	3	2	2	2	1	3	1	2	1	3	2	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:120118212C>T	ENST00000332843.2	+	6	657	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	206	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGGCTTCTTTCGGGTGTTCAT	0.517													52	54					0	0	0	0	T	120118212	C	T	120118212	3	4	434	1	0	0	0	0	1	0	0	0	3740	875	31	1	638	1	COLEC10	8	120118212	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	18400367	120118212	26245810	71	85689											
KCNQ3	3786	broad.mit.edu	37	chr8	133150233	133150233	+	Frame_Shift_Del	DEL	T	T	-																															ggcctcaaagtctccttgaaTttttttttatagagacggaa																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:133150233delT	ENST00000388996.4	-	12	2019	c.1599delA	c.(1597-1599)aafs	p.K533fs	KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTCCTTGAATTTTTTTTTAT	0.453													7	185	---	---	---	---					-	133150233	T	-	133150233	7	5	434	1	0	1	0	1	0	0	0	0	8137	1490	52	0	1035	0	KCNQ3	8	133150233	Frame_Shift_Del	DEL	T	TCGA-IQ-A61G-01A-11D-A30E-08	13032021	133150233	13213789	72	85690											
TG	7038	broad.mit.edu	37	chr8	133900553	133900553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagcaagatgtcttccCggtgctgtcacaataccctt	8	11	9	13	1	2	1	1	0	1	1	3	1	3	1	3	2	3	2	3	2	3	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:133900553C>T	ENST00000220616.4	+	10	2541	c.2501C>T	c.(2500-2502)cCg>cTg	p.P834L	TG_ENST00000377869.1_Missense_Mutation_p.P834L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	834	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATGTCTTCCCGGTGCTGTCA	0.522													34	54					0	0	0	0	T	133900553	C	T	133900553	3	4	434	1	0	0	0	0	1	0	0	0	15907	652	23	1	2539	1	TG	8	133900553	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	750320	133900553	12463469	73	85691											
PIP5K1B	8395	broad.mit.edu	37	chr9	71491651	71491651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttagatttaagacatacGctccattagcattccgatat	13	14	5	9	2	0	2	0	0	0	2	2	3	2	2	2	0	2	2	2	0	5	8			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:71491651G>A	ENST00000265382.3	+	6	564	c.259G>A	c.(259-261)Gct>Act	p.A87T	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.A87T	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	87	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAAGACATACGCTCCATTAGC	0.378													26	55					0	0	0	0	A	71491651	G	A	71491651	3	1	434	1	0	0	0	0	1	0	0	0	12012	1087	38	1	269	1	PIP5K1B	9	71491651	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		71491651	69721780	74	85692											
C9orf3	84909	broad.mit.edu	37	chr9	97522357	97522357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctgaaatggaatataatGattttgcaatctgtagtaaa	16	14	7	4	0	2	2	0	2	2	0	2	3	2	3	0	1	1	3	0	1	8	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:97522357G>A	ENST00000375315.2	+	1	292	c.292G>A	c.(292-294)Gat>Aat	p.D98N	C9orf3_ENST00000297979.5_Missense_Mutation_p.D98N|C9orf3_ENST00000277198.2_Missense_Mutation_p.D98N	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	98					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGAATATAATGATTTTGCAAT	0.398													80	81					0	0	0	0	A	97522357	G	A	97522357	3	1	434	1	0	0	0	0	1	0	0	0	2502	1290	45	2	294	2	C9orf3	9	97522357	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	26030706	97522357	43691074	75	85693											
ZNF483	158399	broad.mit.edu	37	chr9	114304133	114304133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacccagataaaagcccCtttggacataatttcaaaga	15	11	6	9	0	1	3	1	1	0	2	1	4	1	4	3	1	1	0	3	1	4	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:114304133C>T	ENST00000309235.5	+	6	1076	c.918C>T	c.(916-918)ccC>ccT	p.P306P	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	306					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATAAAAGCCCCTTTGGACATA	0.393													56	162					0	0	0	0	T	114304133	C	T	114304133	2	4	434	1	0	0	0	0	0	0	0	1	18031	668	24	4		4	ZNF483	9	114304133	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	16781776	114304133	26909298	76	85694											
TNFSF15	9966	broad.mit.edu	37	chr9	117552979	117552979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagtctggcttgtttggtCggcctgcttgtctgatttca	3	17	13	8	1	3	1	1	1	2	0	4	2	3	2	1	4	1	3	1	4	0	4	rs144487361		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:117552979C>T	ENST00000374045.4	-	4	622	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	TNFSF15_ENST00000374044.1_Missense_Mutation_p.R93Q	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	170					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTTGTTTGGTCGGCCTGCTTG	0.522													3	33					0	0	0	0	T	117552979	C	T	117552979	3	4	434	1	0	0	0	0	1	0	0	0	16402	884	31	1	250	1	TNFSF15	9	117552979	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	3248846	117552979	23660452	77	85695											
PCDH15	65217	broad.mit.edu	37	chr10	55582950	55582950	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatcagatagaaatgtgaaTtttcttgcagacttcagttt	12	16	7	6	0	4	4	3	1	1	3	4	4	4	4	0	0	1	2	0	0	3	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:55582950T>A	ENST00000361849.3	-	34	4936	c.4542A>T	c.(4540-4542)aaA>aaT	p.K1514N	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1472N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1509N|PCDH15_ENST00000320301.6_Missense_Mutation_p.K1512N|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1489N|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1443N|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_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	1512					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAATGTGAATTTTCTTGCAG	0.373										HNSCC(58;0.16)			23	40					0	0	0	0	A	55582950	T	A	55582950	3	1	434	1	0	0	0	0	1	0	0	0	11582	1490	52	5	2941	5	PCDH15	10	55582950	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08		55582950	79951797	78	85696											
ADK	132	broad.mit.edu	37	chr10	76360239	76360239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaagggagagatgacactAtaatggctacaggtacatgt	14	8	11	8	0	0	2	0	1	0	1	0	4	0	3	1	3	2	2	1	3	5	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:76360239A>G	ENST00000372734.3	+	9	1001	c.814A>G	c.(814-816)Ata>Gta	p.I272V	ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000286621.2_Missense_Mutation_p.I289V|ADK_ENST00000541550.1_Missense_Mutation_p.I254V	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	289					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGATGACACTATAATGGCTAC	0.348													14	22					0	0	0	0	G	76360239	A	G	76360239	3	3	434	1	0	0	0	0	1	0	0	0	320	449	16	5	917	5	ADK	10	76360239	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	20777289	76360239	59174508	79	85697											
NRG3	10718	broad.mit.edu	37	chr10	83635273	83635273	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtagcgactgcatcgtGtggaaccggcagcagacgtg	8	7	15	11	5	0	1	0	0	0	1	1	3	0	2	1	2	4	5	1	2	2	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:83635273G>C	ENST00000404547.1	+	1	177	c.177G>C	c.(175-177)gtG>gtC	p.V59V	NRG3_ENST00000372141.2_Silent_p.V59V			P56975	NRG3_HUMAN	neuregulin 3	59					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACTGCATCGTGTGGAACCGGC	0.711													8	11					0	0	0	0	C	83635273	G	C	83635273	2	2	434	1	0	0	0	0	0	0	0	1	10720	1364	48	4		4	NRG3	10	83635273	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	7275034	83635273	51899474	80	85698											
SUFU	51684	broad.mit.edu	37	chr10	104309846	104309846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaatgcagggcttggcacGatacgtgttccagtcaggta	9	11	13	8	2	1	0	1	0	0	0	2	1	2	0	1	3	2	6	1	3	3	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:104309846G>T	ENST00000369902.3	+	3	603	c.437G>T	c.(436-438)cGa>cTa	p.R146L	SUFU_ENST00000369899.2_Missense_Mutation_p.R146L|SUFU_ENST00000423559.2_Missense_Mutation_p.R146L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	146					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGCTTGGCACGATACGTGTTC	0.527			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				19	43					1.01871e-10	1.11132e-10	1	0	T	104309846	G	T	104309846	3	4	434	1	0	0	0	0	1	0	0	0	15458	1058	37	3	447	3	SUFU	10	104309846	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	20674573	104309846	31224901	81	85699											
METTL10	399818	broad.mit.edu	37	chr10	126448978	126448978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcgtccaagaaaaagtcTcacattttttggaaaaccaa	17	11	5	8	1	1	1	1	0	1	1	4	2	2	2	2	1	1	0	2	1	7	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:126448978T>C	ENST00000494792.1	-	6	604	c.605A>G	c.(604-606)gAg>gGg	p.202_202insG	METTL10_ENST00000368836.2_3'UTR																							AGAAAAAGTCTCACATTTTTT	0.403													19	15					0	0	0	0	C	126448978	T	C	126448978	3	2	434	1	0	0	0	0	1	0	0	0	9563	1566	54	5		5	METTL10	10	126448978	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	22139132	126448978	9085769	82	85700											
MADD	8567	broad.mit.edu	37	chr11	47310955	47310955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacaggaaacaggagggcGttagtggatcagaagtcatc	13	6	14	8	1	2	1	2	0	0	1	3	4	2	4	1	4	1	1	1	4	3	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:47310955G>A	ENST00000342922.4	+	16	3024	c.2667G>A	c.(2665-2667)gcG>gcA	p.A889A	MADD_ENST00000402799.1_Silent_p.A846A|MADD_ENST00000402192.2_Silent_p.A889A|MADD_ENST00000395336.3_Silent_p.A909A|MADD_ENST00000395344.3_Silent_p.A846A|MADD_ENST00000349238.3_Silent_p.A909A|MADD_ENST00000311027.5_Silent_p.A909A|MADD_ENST00000407859.3_Silent_p.A866A|MADD_ENST00000406482.1_Silent_p.A846A	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	909					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACAGGAGGGCGTTAGTGGATC	0.488													5	392					0	0	0	0	A	47310955	G	A	47310955	2	1	434	1	0	0	0	0	0	0	0	1	9217	1132	40	1		1	MADD	11	47310955	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		47310955	87695561	83	85701											
OR5I1	10798	broad.mit.edu	37	chr11	55702954	55702954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaatctacctttgatCttagaactttctcagctgca	12	14	6	9	0	3	4	1	2	3	2	4	4	3	4	1	0	4	2	1	0	5	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:55702954C>A	ENST00000301532.3	-	1	922	c.923G>T	c.(922-924)aGa>aTa	p.R308I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TACCTTTGATCTTAGAACTTT	0.343													7	20					5.18039e-06	5.3475e-06	1	0	A	55702954	C	A	55702954	3	1	434	1	0	0	0	0	1	0	0	0	11235	913	32	2	24	2	OR5I1	11	55702954	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	8391999	55702954	79303562	84	85702											
LRRC55	219527	broad.mit.edu	37	chr11	56949990	56949990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagggcctcatgcagctccGagacctggacctcagttatg	8	9	11	13	1	3	1	3	0	0	1	4	3	4	2	4	2	2	3	4	2	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:56949990G>A	ENST00000497933.1	+	1	770	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	178						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ATGCAGCTCCGAGACCTGGAC	0.647													27	99					0	0	0	0	A	56949990	G	A	56949990	3	1	434	1	0	0	0	0	1	0	0	0	9075	1058	37	1	625	1	LRRC55	11	56949990	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1247036	56949990	78056526	85	85703											
VWCE	220001	broad.mit.edu	37	chr11	61026510	61026510	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggccccaggctccccTgggaaagtggctgtcagccc	6	5	16	14	0	1	0	1	0	0	0	2	2	2	2	5	6	1	2	5	6	1	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:61026510T>C	ENST00000335613.5	-	20	2891	c.2505A>G	c.(2503-2505)ccA>ccG	p.P835P	VWCE_ENST00000535710.1_Silent_p.P300P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	835	Pro-rich.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGGCTCCCCTGGGAAAGTGG	0.597													38	56					0	0	0	0	C	61026510	T	C	61026510	2	2	434	1	0	0	0	0	0	0	0	1	17341	1567	55	5		5	VWCE	11	61026510	Silent	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	4076520	61026510	73980006	86	85704											
B3GAT3	26229	broad.mit.edu	37	chr11	62384203	62384203	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccgtcctgtacctgaggGccctcgaatcgcaggccgcc	5	6	13	17	5	0	1	0	1	0	0	3	2	1	1	6	3	1	2	6	3	2	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:62384203G>T	ENST00000531383.1	-	4	890	c.684C>A	c.(682-684)ggC>ggA	p.G228G	B3GAT3_ENST00000534026.1_Silent_p.G228G|B3GAT3_ENST00000265471.5_Silent_p.G228G			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	228					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GTACCTGAGGGCCCTCGAATC	0.652													12	48					7.03913e-09	7.46692e-09	1	0	T	62384203	G	T	62384203	2	4	434	1	0	0	0	0	0	0	0	1	1259	1190	42	4		4	B3GAT3	11	62384203	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1357693	62384203	72622313	87	85705											
ALDH3B2	222	broad.mit.edu	37	chr11	67431139	67431139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagggacccaccgactcCcccgaatggcacggacagca	10	2	13	16	3	0	0	0	0	0	0	1	4	1	2	4	4	1	3	4	4	1	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:67431139C>T	ENST00000349015.3	-	9	1405	c.967G>A	c.(967-969)Gga>Aga	p.G323R	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G323R	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	323					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CCACCGACTCCCCCGAATGGC	0.582													7	42					0	0	0	0	T	67431139	C	T	67431139	3	4	434	1	0	0	0	0	1	0	0	0	500	632	22	4	198	4	ALDH3B2	11	67431139	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	5046936	67431139	67575377	88	85706											
ANO1	55107	broad.mit.edu	37	chr11	69954473	69954473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caataggtctatgagatcttGaagagaacgacgtgtacaaa	16	9	10	6	2	2	3	0	2	2	2	2	6	2	3	0	1	2	1	0	1	7	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:69954473G>A	ENST00000355303.5	+	6	1067	c.762G>A	c.(760-762)ttG>ttA	p.L254L	ANO1_ENST00000538023.1_Silent_p.L254L|ANO1_ENST00000531349.1_5'UTR|ANO1_ENST00000530676.1_Silent_p.L138L|ANO1_ENST00000398543.2_Silent_p.L138L|ANO1_ENST00000316296.5_Silent_p.L226L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	254					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ATGAGATCTTGAAGAGAACGA	0.502													23	252					0	0	0	0	A	69954473	G	A	69954473	2	1	434	1	0	0	0	0	0	0	0	1	694	1281	45	2		2	ANO1	11	69954473	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	2523334	69954473	65052043	89	85707											
INPPL1	3636	broad.mit.edu	37	chr11	71946906	71946906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaggtcagggagccgcaagCcagccttcacagaggcctcc	9	4	13	15	1	2	1	2	0	0	1	3	2	3	2	5	3	3	2	5	3	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:71946906C>T	ENST00000541756.1	+	25	2959	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	INPPL1_ENST00000538751.1_Missense_Mutation_p.P677S|INPPL1_ENST00000298229.2_Missense_Mutation_p.P919S			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	919					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			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						GAGCCGCAAGCCAGCCTTCAC	0.612													4	81					0	0	0	0	T	71946906	C	T	71946906	3	4	434	1	0	0	0	0	1	0	0	0	7814	739	26	4	2853	4	INPPL1	11	71946906	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	1992433	71946906	63059610	90	85708											
CAPRIN2	65981	broad.mit.edu	37	chr12	30872091	30872091	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactggaagccctgttcAgagccctttgccatgggagg	7	9	15	10	0	1	2	1	1	0	1	1	4	1	4	3	4	3	1	3	4	1	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:30872091A>C	ENST00000251071.5	-	13	2967	c.2217T>G	c.(2215-2217)tcT>tcG	p.S739S	CAPRIN2_ENST00000395805.2_Silent_p.S704S|CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.S739S|CAPRIN2_ENST00000308433.5_Silent_p.S406S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	739					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGCCCTGTTCAGAGCCCTTTG	0.498													56	441					0	0	0	0	C	30872091	A	C	30872091	2	2	434	1	0	0	0	0	0	0	0	1	2661	175	7	5		5	CAPRIN2	12	30872091	Silent	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08		30872091	102979804	91	85709											
NCKAP5L	57701	broad.mit.edu	37	chr12	50189159	50189159	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagcggagccccaggtcgAggcaccaccttggttggtga	8	7	14	12	2	0	1	0	1	0	0	1	3	0	2	4	5	2	2	4	5	1	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:50189159A>T	ENST00000335999.6	-	8	2685	c.2484T>A	c.(2482-2484)ccT>ccA	p.P828P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	824	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCCAGGTCGAGGCACCACCT	0.627													20	59					0	0	0	0	T	50189159	A	T	50189159	2	4	434	1	0	0	0	0	0	0	0	1	10294	291	11	5		5	NCKAP5L	12	50189159	Silent	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	19317068	50189159	83662736	92	85710											
TFCP2	7024	broad.mit.edu	37	chr12	51566196	51566196	+	Frame_Shift_Del	DEL	C	C	-																															ggccagaggcagcttcagagCccaggccatcctggctcctt																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:51566196delC	ENST00000307660.4	-	1	730	c.10delG	c.(10-12)ctfs	p.A4fs	TFCP2_ENST00000549867.1_Frame_Shift_Del_p.A4fs|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.A4fs|TFCP2_ENST00000257915.5_Frame_Shift_Del_p.A4fs	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	4					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGCTTCAGAGCCCAGGCCATC	0.577													30	61	---	---	---	---					-	51566196	C	-	51566196	7	5	434	1	0	1	0	1	0	0	0	0	15889	739	26	0	1558	0	TFCP2	12	51566196	Frame_Shift_Del	DEL	C	TCGA-IQ-A61G-01A-11D-A30E-08	1377037	51566196	82285699	93	85711											
KRT1	3848	broad.mit.edu	37	chr12	53069019	53069019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtagaaacaaacttcacGctggaactgccaccagagga	14	6	11	10	1	1	2	1	0	0	2	1	4	1	4	2	3	4	2	2	3	4	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:53069019G>A	ENST00000252244.3	-	9	1951	c.1893C>T	c.(1891-1893)agC>agT	p.S631S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	631	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CAAACTTCACGCTGGAACTGC	0.562													44	133					0	0	0	0	A	53069019	G	A	53069019	2	1	434	1	0	0	0	0	0	0	0	1	8499	1078	38	1		1	KRT1	12	53069019	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1502823	53069019	80782876	94	85712											
USP44	84101	broad.mit.edu	37	chr12	95927582	95927582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtatccttctcctgtgccAaagagcagtatacagttgat	11	13	8	9	0	1	2	0	1	1	1	3	2	2	2	3	0	3	4	3	0	5	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:95927582A>G	ENST00000258499.3	-	2	739	c.451T>C	c.(451-453)Tgg>Cgg	p.W151R	USP44_ENST00000552440.1_Missense_Mutation_p.W151R|USP44_ENST00000537435.2_Missense_Mutation_p.W151R|USP44_ENST00000393091.2_Missense_Mutation_p.W151R	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	151					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCCTGTGCCAAAGAGCAGTA	0.393													20	50					0	0	0	0	G	95927582	A	G	95927582	3	3	434	1	0	0	0	0	1	0	0	0	17171	130	5	5	1707	5	USP44	12	95927582	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	42858563	95927582	37924313	95	85713											
ACTR6	64431	broad.mit.edu	37	chr12	100601474	100601474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactaatattattatcactGaaccatactttaacttcact	15	16	1	9	0	2	1	2	1	0	0	2	1	2	1	1	0	4	0	1	0	8	9			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:100601474G>A	ENST00000188312.2	+	4	1054	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	ACTR6_ENST00000546902.1_Missense_Mutation_p.E15K|ACTR6_ENST00000552376.1_Missense_Mutation_p.E97K|ACTR6_ENST00000551617.1_Missense_Mutation_p.E15K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	97						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TATTATCACTGAACCATACTT	0.259													12	20					0	0	0	0	A	100601474	G	A	100601474	3	1	434	1	0	0	0	0	1	0	0	0	216	1291	45	2	303	2	ACTR6	12	100601474	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	4673892	100601474	33250421	96	85714											
RASAL1	8437	broad.mit.edu	37	chr12	113553483	113553483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagatagtccagaaagcgCccagccagtccccggccaag	11	4	12	14	2	0	2	0	1	0	2	2	3	2	2	6	1	2	0	6	1	3	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:113553483C>T	ENST00000546530.1	-	11	1245	c.960G>A	c.(958-960)ggG>ggA	p.G320G	RASAL1_ENST00000548055.1_Silent_p.G320G|RASAL1_ENST00000261729.5_Silent_p.G320G|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.G320G	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	320	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCAGAAAGCGCCCAGCCAGTC	0.632													15	19					0	0	0	0	T	113553483	C	T	113553483	2	4	434	1	0	0	0	0	0	0	0	1	13145	726	26	4		4	RASAL1	12	113553483	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	12952009	113553483	20298412	97	85715											
PLBD2	196463	broad.mit.edu	37	chr12	113826348	113826348	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcccccgttccagtggAgcacctcgcccttcagcggc	5	7	12	17	3	1	0	1	0	0	0	3	1	2	1	5	3	3	2	5	3	0	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:113826348A>T	ENST00000280800.3	+	12	1718	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	PLBD2_ENST00000545182.2_Missense_Mutation_p.S531C	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	563					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTTCCAGTGGAGCACCTCGCC	0.647													5	14					0	0	0	0	T	113826348	A	T	113826348	3	4	434	1	0	0	0	0	1	0	0	0	12098	304	11	5	1733	5	PLBD2	12	113826348	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	272865	113826348	20025547	98	85716											
SRRM4	84530	broad.mit.edu	37	chr12	119583252	119583252	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctcaccacctcgcgaGgacgttcccaggagtacgac	8	5	11	17	5	1	0	1	0	0	0	3	4	2	2	4	2	1	3	4	2	1	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:119583252G>T	ENST00000267260.4	+	9	1226	c.838G>T	c.(838-840)Gga>Tga	p.G280*		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	280	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CACCTCGCGAGGACGTTCCCA	0.607													6	16					3.59834e-05	3.69455e-05	1	0	T	119583252	G	T	119583252	4	4	434	1	0	0	0	0	0	1	0	0	15261	1001	35	4	872	4	SRRM4	12	119583252	Nonsense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	5756904	119583252	14268643	99	85717											
KDM2B	84678	broad.mit.edu	37	chr12	121970759	121970759	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctcaattctttggcAtcgttccacacggtctccca	7	13	6	15	2	4	0	2	0	2	0	7	0	5	0	2	2	1	3	2	2	1	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:121970759A>T	ENST00000377069.4	-	8	1196	c.790T>A	c.(790-792)Tgc>Agc	p.C264S	KDM2B_ENST00000543852.1_Missense_Mutation_p.C64S|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000536437.1_Missense_Mutation_p.C178S|KDM2B_ENST00000377071.4_Missense_Mutation_p.C295S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	295	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTCTTTGGCATCGTTCCACA	0.552													32	28					0	0	0	0	T	121970759	A	T	121970759	3	4	434	1	0	0	0	0	1	0	0	0	8178	217	8	5	3243	5	KDM2B	12	121970759	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	2387507	121970759	11881136	100	85718											
POSTN	10631	broad.mit.edu	37	chr13	38164636	38164636	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggctcccacgatgcccAgagtgccataaacatggtca	10	8	11	12	1	1	1	1	0	0	1	2	2	2	1	3	3	3	1	3	3	2	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr13:38164636A>T	ENST00000379747.4	-	4	431	c.314T>A	c.(313-315)cTg>cAg	p.L105Q	POSTN_ENST00000541179.1_Missense_Mutation_p.L105Q|POSTN_ENST00000379749.4_Missense_Mutation_p.L105Q|POSTN_ENST00000379743.4_Missense_Mutation_p.L105Q|POSTN_ENST00000379742.4_Missense_Mutation_p.L105Q|POSTN_ENST00000541481.1_Missense_Mutation_p.L105Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	105	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CACGATGCCCAGAGTGCCATA	0.438													19	9					0	0	0	0	T	38164636	A	T	38164636	3	4	434	1	0	0	0	0	1	0	0	0	12331	188	7	5	2276	5	POSTN	13	38164636	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08		38164636	77005242	101	85719											
PCDH17	27253	broad.mit.edu	37	chr13	58207394	58207394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgattgactccaacgaCaacagcccggtcttcgaggc	11	7	11	12	3	1	2	0	2	1	0	3	4	2	2	2	3	3	0	2	3	3	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr13:58207394C>A	ENST00000377918.3	+	1	740	c.714C>A	c.(712-714)gaC>gaA	p.D238E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	238	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACTCCAACGACAACAGCCCGG	0.597													19	62					1.67942e-08	1.76201e-08	1	0	A	58207394	C	A	58207394	3	1	434	1	0	0	0	0	1	0	0	0	11583	477	17	4	716	4	PCDH17	13	58207394	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	20042758	58207394	56962484	102	85720											
RNF113B	140432	broad.mit.edu	37	chr13	98829181	98829181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccccatgtcctctggccCcacaggcttcgccgagcggg	4	6	13	18	3	1	0	0	0	1	0	3	1	2	0	6	4	1	1	6	4	0	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr13:98829181C>T	ENST00000267291.6	-	1	338	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	104							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCCTCTGGCCCCACAGGCTTC	0.687													24	37					0	0	0	0	T	98829181	C	T	98829181	3	4	434	1	0	0	0	0	1	0	0	0	13513	623	22	4	666	4	RNF113B	13	98829181	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	40621787	98829181	16340697	103	85721											
OR11H12	440153	broad.mit.edu	37	chr14	19378104	19378104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtttgtggatttctgtggTtcctgatccccattgttctc	3	18	11	9	0	2	1	0	1	2	0	5	2	4	2	3	3	0	3	3	3	0	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:19378104T>C	ENST00000550708.1	+	1	583	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTCTGTGGTTCCTGATCCC	0.488													24	329					0	0	0	0	C	19378104	T	C	19378104	3	2	434	1	0	0	0	0	1	0	0	0	10998	1725	60	5	513	5	OR11H12	14	19378104	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08		19378104	87971436	104	85722											
OR4K15	81127	broad.mit.edu	37	chr14	20444508	20444508	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactttattctttggaccAtgcattttcatctatgtgtg	7	19	7	8	0	4	0	2	0	2	0	4	1	4	1	1	1	1	1	1	1	2	7			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:20444508A>T	ENST00000305051.5	+	1	906	c.831A>T	c.(829-831)ccA>ccT	p.P277P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTGGACCATGCATTTTCA	0.438													27	76					0	0	0	0	T	20444508	A	T	20444508	2	4	434	1	0	0	0	0	0	0	0	1	11141	204	8	5		5	OR4K15	14	20444508	Silent	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	1066404	20444508	86905032	105	85723											
RPGRIP1	57096	broad.mit.edu	37	chr14	21789467	21789467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaactgtcccaggtgctaaAtgagttgcaagtatcacacg	13	9	10	9	1	1	1	1	1	0	0	2	2	2	1	1	1	3	4	1	1	5	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:21789467A>G	ENST00000206660.6	+	12	1517	c.1517A>G	c.(1516-1518)aAt>aGt	p.N506S	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.N479S|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.N506S|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.N479S|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.N148S			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	506					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGGTGCTAAATGAGTTGCAA	0.428													17	23					0	0	0	0	G	21789467	A	G	21789467	3	3	434	1	0	0	0	0	1	0	0	0	13634	101	4	5	1563	5	RPGRIP1	14	21789467	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	1344959	21789467	85560073	106	85724											
LRRC16B	90668	broad.mit.edu	37	chr14	24529927	24529927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggatgagctactctacGctcgggacctcatcaaagat	11	9	10	11	2	3	2	2	1	1	1	4	4	3	4	1	2	4	3	1	2	3	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:24529927G>A	ENST00000342740.5	+	25	2306	c.2152G>A	c.(2152-2154)Gct>Act	p.A718T	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	718										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCTACTCTACGCTCGGGACCT	0.622													8	20					0	0	0	0	A	24529927	G	A	24529927	3	1	434	1	0	0	0	0	1	0	0	0	9036	1087	38	1	2250	1	LRRC16B	14	24529927	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	2740460	24529927	82819613	107	85725											
RALGAPA1	253959	broad.mit.edu	37	chr14	36192435	36192435	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctcgggagatgtacacAtttaggtttgctttgatcca	9	15	10	7	1	1	2	0	1	1	1	3	3	2	2	1	2	2	4	1	2	2	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:36192435A>T	ENST00000258840.6	-	15	2292	c.1902T>A	c.(1900-1902)aaT>aaA	p.N634K	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.N634K|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.N634K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.N634K|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	634					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGATGTACACATTTAGGTTTG	0.393													13	33					0	0	0	0	T	36192435	A	T	36192435	3	4	434	1	0	0	0	0	1	0	0	0	13095	214	8	5	4465	5	RALGAPA1	14	36192435	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	11662508	36192435	71157105	108	85726											
SOS2	6655	broad.mit.edu	37	chr14	50600867	50600867	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggctgtttgcagtttcGaggttcaatttctagtgact	7	16	12	6	1	2	1	1	1	1	0	3	2	2	1	0	3	1	5	0	3	2	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:50600867G>A	ENST00000216373.5	-	19	3323	c.3049C>T	c.(3049-3051)Cga>Tga	p.R1017*	SOS2_ENST00000543680.1_Nonsense_Mutation_p.R984*	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1017	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTGCAGTTTCGAGGTTCAATT	0.323													4	150					0	0	0	0	A	50600867	G	A	50600867	4	1	434	1	0	0	0	0	0	1	0	0	15025	1066	37	1	969	1	SOS2	14	50600867	Nonsense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	14408432	50600867	56748673	109	85727											
DACT1	51339	broad.mit.edu	37	chr14	59112257	59112257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccatgccagtgacattTgcggtggatctgagctagat	11	10	12	8	1	1	3	0	2	1	1	1	5	1	4	2	2	4	1	2	2	2	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:59112257T>C	ENST00000395153.3	+	4	952	c.805T>C	c.(805-807)Tgc>Cgc	p.C269R	DACT1_ENST00000395151.3_Missense_Mutation_p.C25R|DACT1_ENST00000556859.1_Missense_Mutation_p.C25R|DACT1_ENST00000335867.4_Missense_Mutation_p.C306R|DACT1_ENST00000541264.2_Missense_Mutation_p.C25R	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	306					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAGTGACATTTGCGGTGGATC	0.522													45	31					0	0	0	0	C	59112257	T	C	59112257	3	2	434	1	0	0	0	0	1	0	0	0	4255	1812	63	5	930	5	DACT1	14	59112257	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	8511390	59112257	48237283	110	85728											
DCAF5	8816	broad.mit.edu	37	chr14	69521673	69521673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaggtagaggctcggCgttcattcagctcctcctca	6	10	11	14	2	3	1	3	0	0	1	6	1	5	1	3	3	2	5	3	3	1	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:69521673C>T	ENST00000341516.5	-	9	1877	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	DCAF5_ENST00000554215.1_Missense_Mutation_p.R495H|DCAF5_ENST00000556847.1_Missense_Mutation_p.R495H|DCAF5_ENST00000557386.1_Missense_Mutation_p.R576H	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	577						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AGAGGCTCGGCGTTCATTCAG	0.582													10	108					0	0	0	0	T	69521673	C	T	69521673	3	4	434	1	0	0	0	0	1	0	0	0	4306	768	27	1	1102	1	DCAF5	14	69521673	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	10409416	69521673	37827867	111	85729											
ADAM21	8747	broad.mit.edu	37	chr14	70925552	70925552	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaggcctggggctgccTgtgcttttgggctttgttgc	2	15	14	10	0	1	0	0	0	1	0	1	0	1	0	2	4	3	4	2	4	1	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:70925552T>A	ENST00000603540.1	+	2	1594	c.1336T>A	c.(1336-1338)Tgt>Agt	p.C446S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.C446S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	446	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGGCTGCCTGTGCTTTTGG	0.498													20	58					0	0	0	0	A	70925552	T	A	70925552	3	1	434	1	0	0	0	0	1	0	0	0	243	1580	55	5	1338	5	ADAM21	14	70925552	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	1403879	70925552	36423988	112	85730											
SLC24A4	123041	broad.mit.edu	37	chr14	92920295	92920295	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggtgatggtggacgagaTtatgagctccagccctccca	8	9	13	11	2	0	3	0	2	0	1	2	5	2	4	3	3	2	1	3	3	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:92920295T>A	ENST00000532405.1	+	11	1158	c.932T>A	c.(931-933)aTt>aAt	p.I311N	SLC24A4_ENST00000393265.2_Missense_Mutation_p.I247N|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000351924.5_Missense_Mutation_p.I275N|SLC24A4_ENST00000531433.1_Missense_Mutation_p.I292N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.I294N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	311						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTGGACGAGATTATGAGCTCC	0.532													10	62					0	0	0	0	A	92920295	T	A	92920295	3	1	434	1	0	0	0	0	1	0	0	0	14556	1493	52	5	923	5	SLC24A4	14	92920295	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	21994743	92920295	14429245	113	85731											
SERPINA9	327657	broad.mit.edu	37	chr14	94929634	94929634	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagccttgtgggttgcCtgccaagggaaaaacaaaca	14	6	11	10	0	0	0	0	0	0	0	0	1	0	1	3	2	6	2	3	2	4	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:94929634C>A	ENST00000337425.5	-	5	1179		c.e5-1		SERPINA9_ENST00000448305.2_Splice_Site|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000424550.2_Splice_Site|SERPINA9_ENST00000380365.3_Splice_Site|SERPINA9_ENST00000298845.7_Splice_Site	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			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)		TGTGGGTTGCCTGCCAAGGGA	0.502													32	26					1.08312e-15	1.23053e-15	1	0	A	94929634	C	A	94929634	5	1	434	1	0	0	0	0	0	0	1	0	14182	695	24	4	207	4	SERPINA9	14	94929634	Splice_Site	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	2009339	94929634	12419906	114	85732											
ATG2B	55102	broad.mit.edu	37	chr14	96792231	96792231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggactatgtgaatcaTctagaaacacttcagtgaaa	15	11	8	7	0	3	3	2	2	1	1	3	4	3	4	0	1	2	1	0	1	5	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:96792231T>C	ENST00000359933.4	-	15	3085	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	731										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATGTGAATCATCTAGAAACAC	0.348													38	34					0	0	0	0	C	96792231	T	C	96792231	3	2	434	1	0	0	0	0	1	0	0	0	1098	1435	50	5	4156	5	ATG2B	14	96792231	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	1862597	96792231	10557309	115	85733											
CDC42BPB	9578	broad.mit.edu	37	chr14	103438345	103438345	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctcctcctccttgtctcGcagctgccgggacaccttct	4	12	7	18	2	3	0	0	0	3	0	7	1	5	1	5	1	2	2	5	1	0	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:103438345G>A	ENST00000361246.2	-	13	2083	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	599					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			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)		TCCTTGTCTCGCAGCTGCCGG	0.617													4	143					0	0	0	0	A	103438345	G	A	103438345	4	1	434	1	0	0	0	0	0	1	0	0	3102	1095	38	1	3440	1	CDC42BPB	14	103438345	Nonsense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	6646114	103438345	3911195	116	85734											
CYFIP1	23191	broad.mit.edu	37	chr15	22947044	22947044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtacgagcgtgccacGcgctacaactacaccagcga	13	4	11	13	5	0	1	0	0	0	1	0	4	0	1	2	0	7	2	2	0	5	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:22947044G>A	ENST00000313077.7	+	13	1442	c.1317G>A	c.(1315-1317)acG>acA	p.T439T	CYFIP1_ENST00000560848.1_Silent_p.T439T	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	439					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGCGTGCCACGCGCTACAACT	0.572													19	128					0	0	0	0	A	22947044	G	A	22947044	2	1	434	1	0	0	0	0	0	0	0	1	4169	1074	38	1		1	CYFIP1	15	22947044	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		22947044	79584348	117	85735											
MAGEL2	54551	broad.mit.edu	37	chr15	23890308	23890308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtggcagttgcctgggggGcagctgctgtagccatcagg	5	9	18	9	0	1	0	1	0	0	0	1	0	1	0	2	6	4	6	2	6	1	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:23890308G>C	ENST00000532292.1	-	1	867	c.773C>G	c.(772-774)gCc>gGc	p.A258G		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCCTGGGGGGCAGCTGCTGT	0.632													18	63					0	0	0	0	C	23890308	G	C	23890308	3	2	434	1	0	0	0	0	1	0	0	0	9258	1203	42	4	1171	4	MAGEL2	15	23890308	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	943264	23890308	78641084	118	85736											
UBE3A	7337	broad.mit.edu	37	chr15	25585277	25585277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctataatcatctttaattttCctagtcctcccacaggtgct	9	16	4	12	0	2	0	1	0	1	0	5	0	5	0	3	1	1	1	3	1	4	7			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:25585277C>T	ENST00000232165.3	-	12	3109	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	UBE3A_ENST00000566215.1_Missense_Mutation_p.G798E|UBE3A_ENST00000428984.2_Missense_Mutation_p.G798E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.G798E|UBE3A_ENST00000397954.2_Missense_Mutation_p.G821E	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	821	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTTTAATTTTCCTAGTCCTCC	0.413													15	61					0	0	0	0	T	25585277	C	T	25585277	3	4	434	1	0	0	0	0	1	0	0	0	16975	855	30	2	173	2	UBE3A	15	25585277	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	1694969	25585277	76946115	119	85737											
BMF	90427	broad.mit.edu	37	chr15	40398126	40398126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggccagggccacagcaGtgggtgagagggaagagctg	11	3	19	8	1	0	2	0	1	0	2	0	5	0	3	2	4	2	2	2	4	2	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:40398126G>A	ENST00000354670.4	-	3	396	c.162C>T	c.(160-162)caC>caT	p.H54H	BMF_ENST00000558774.1_Silent_p.H54H|BMF_ENST00000561282.1_Silent_p.H54H|BMF_ENST00000561360.1_Silent_p.H54H|BMF_ENST00000559701.1_Silent_p.H54H|BMF_ENST00000397573.1_Silent_p.H54H|BMF_ENST00000431415.3_Silent_p.H54H|BMF_ENST00000220446.4_Silent_p.H54H	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	54					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GGCCACAGCAGTGGGTGAGAG	0.637													21	63					0	0	0	0	A	40398126	G	A	40398126	2	1	434	1	0	0	0	0	0	0	0	1	1459	1020	36	4		4	BMF	15	40398126	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	14812849	40398126	62133266	120	85738											
ODF3L1	161753	broad.mit.edu	37	chr15	76019675	76019675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctaccacgtacgcccgaCctgagccatccatctatcag	10	7	7	17	3	2	1	1	1	1	0	3	3	3	1	6	0	3	1	6	0	3	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:76019675C>A	ENST00000332145.2	+	4	842	c.619C>A	c.(619-621)Cct>Act	p.P207T		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	207										kidney(1)|lung(1)	2						GTACGCCCGACCTGAGCCATC	0.632													20	63					8.34094e-07	8.70359e-07	1	0	A	76019675	C	A	76019675	3	1	434	1	0	0	0	0	1	0	0	0	10902	507	18	4	633	4	ODF3L1	15	76019675	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	35621549	76019675	26511717	121	85739											
DNAH3	55567	broad.mit.edu	37	chr16	21038387	21038387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttgctcgaggtcggcGggctcgaagatcaggctcat	7	8	16	10	4	2	1	2	0	0	1	5	4	2	1	0	5	1	4	0	5	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:21038387G>A	ENST00000261383.3	-	38	5501	c.5502C>T	c.(5500-5502)ccC>ccT	p.P1834P	DNAH3_ENST00000415178.1_Silent_p.P1834P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1834	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGAGGTCGGCGGGCTCGAAGA	0.567													14	22					0	0	0	0	A	21038387	G	A	21038387	2	1	434	1	0	0	0	0	0	0	0	1	4640	1103	39	1		1	DNAH3	16	21038387	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		21038387	69316366	122	85740											
COG7	91949	broad.mit.edu	37	chr16	23415099	23415099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgggcctgctggttaagCcgagtcagcgctgctcgagg	5	9	17	10	3	1	0	1	0	0	0	2	2	1	0	2	4	4	4	2	4	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:23415099C>T	ENST00000307149.5	-	13	1904	c.1719G>A	c.(1717-1719)cgG>cgA	p.R573R		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	573					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCTGGTTAAGCCGAGTCAGCG	0.512													28	35					0	0	0	0	T	23415099	C	T	23415099	2	4	434	1	0	0	0	0	0	0	0	1	3693	726	26	4		4	COG7	16	23415099	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	2376712	23415099	66939654	123	85741											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-																															ggaaatccaagcgcctggatGaggaggaggaggacaatgaa																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)del	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													7	1205	---	---	---	---					-	28734581	GAG	-	28734579	7	5	434	1	0	1	0	1	0	0	0	0	5050	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-IQ-A61G-01A-11D-A30E-08	5319480	28734579	61620174	124	85742											
ATP2A1	487	broad.mit.edu	37	chr16	28909738	28909738	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagcgagaggaaatggTcctggatgactctgccaggt	10	7	14	10	2	1	2	0	1	1	1	2	6	2	4	3	4	2	0	3	4	2	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:28909738T>G	ENST00000395503.4	+	14	1914	c.1730T>G	c.(1729-1731)gTc>gGc	p.V577G	ATP2A1_ENST00000357084.3_Missense_Mutation_p.V577G|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V452G	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	577					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAGGAAATGGTCCTGGATGAC	0.642													20	36					0	0	0	0	G	28909738	T	G	28909738	3	3	434	1	0	0	0	0	1	0	0	0	1140	1667	58	5	1784	5	ATP2A1	16	28909738	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	175159	28909738	61445015	125	85743											
RBL2	5934	broad.mit.edu	37	chr16	53481001	53481001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccatttttgttgggtgcTttttatatatgcaaaaggta	9	20	8	4	0	0	0	0	0	0	0	1	0	1	0	1	2	2	4	1	2	6	10			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:53481001T>C	ENST00000262133.6	+	4	757	c.620T>C	c.(619-621)cTt>cCt	p.L207P	RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	207					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTTGGGTGCTTTTTATATAT	0.284													4	34					0	0	0	0	C	53481001	T	C	53481001	3	2	434	1	0	0	0	0	1	0	0	0	13192	1609	56	5	634	5	RBL2	16	53481001	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	24571263	53481001	36873752	126	85744											
ANKRD11	29123	broad.mit.edu	37	chr16	89348160	89348160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgtgccgcttgtggCgctcctcgatctccaggtcc	2	13	10	16	3	2	0	0	0	2	0	7	1	4	0	5	2	1	2	5	2	0	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:89348160C>T	ENST00000301030.4	-	9	5250	c.4790G>A	c.(4789-4791)cGc>cAc	p.R1597H	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1597H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1597	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGCTTGTGGCGCTCCTCGAT	0.622													4	135					0	0	0	0	T	89348160	C	T	89348160	3	4	434	1	0	0	0	0	1	0	0	0	639	768	27	1	3221	1	ANKRD11	16	89348160	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	35867159	89348160	1006593	127	85745											
MYBBP1A	10514	broad.mit.edu	37	chr17	4443689	4443689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagaggtcgtgcaggcGgctggagccggtggagtgtg	6	7	20	8	3	0	1	0	0	0	1	1	3	0	3	2	6	2	3	2	6	1	1	rs138042708		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:4443689G>A	ENST00000254718.4	-	25	3694	c.3388C>T	c.(3388-3390)Cgc>Tgc	p.R1130C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1130C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1130					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCGTGCAGGCGGCTGGAGCCG	0.642													3	42					0	0	0	0	A	4443689	G	A	4443689	3	1	434	1	0	0	0	0	1	0	0	0	10078	1116	39	1	646	1	MYBBP1A	17	4443689	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		4443689	76751521	128	85746											
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	9	11	11	10	1	1	0	1	0	0	0	1	1	1	1	2	2	4	5	2	2	3	4	rs28934573		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:7577559G>C	ENST00000420246.2	-	7	854	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TP53_ENST00000455263.2_Missense_Mutation_p.S241C|TP53_ENST00000445888.2_Missense_Mutation_p.S241C|TP53_ENST00000269305.4_Missense_Mutation_p.S241C|TP53_ENST00000359597.4_Missense_Mutation_p.S241C|TP53_ENST00000413465.2_Missense_Mutation_p.S241C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572		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)			49	10					0	0	0	0	C	7577559	G	C	7577559	3	2	434	1	0	0	0	0	1	0	0	0	16476	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	3133870	7577559	73617651	129	85747											
KDM6B	23135	broad.mit.edu	37	chr17	7750719	7750719	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaccaccagcagcagcagTagcagcagcagcaacactgg	14	2	10	15	0	0	0	0	0	0	0	0	0	0	0	3	1	8	8	3	1	2	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:7750719T>C	ENST00000254846.5	+	10	1595	c.1206T>C	c.(1204-1206)agT>agC	p.S402S	KDM6B_ENST00000448097.2_Silent_p.S402S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	402	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						gcagcagcagtagcagcagca	0.657													24	84					0	0	0	0	C	7750719	T	C	7750719	2	2	434	1	0	0	0	0	0	0	0	1	8190	1635	57	5		5	KDM6B	17	7750719	Silent	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	173160	7750719	73444491	130	85748											
MYOCD	93649	broad.mit.edu	37	chr17	12647528	12647528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtgacagtaagaaccGccacaaaaagcccaaggacc	15	4	10	12	1	0	2	0	1	0	1	0	3	0	3	4	2	2	1	4	2	5	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:12647528G>A	ENST00000425538.1	+	8	946	c.746G>A	c.(745-747)cGc>cAc	p.R249H	MYOCD_ENST00000395988.1_Missense_Mutation_p.R153H|MYOCD_ENST00000343344.4_Missense_Mutation_p.R249H	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	249					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			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)		AGTAAGAACCGCCACAAAAAG	0.473													14	32					0	0	0	0	A	12647528	G	A	12647528	3	1	434	1	0	0	0	0	1	0	0	0	10157	1087	38	1	776	1	MYOCD	17	12647528	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	4896809	12647528	68547682	131	85749											
ERBB2	2064	broad.mit.edu	37	chr17	37882904	37882904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacccccagcgctttgtgGtcatccaggtactgggcctc	5	9	13	14	1	1	0	1	0	0	0	3	1	2	1	4	4	2	2	4	4	1	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:37882904G>A	ENST00000406381.2	+	26	3382	c.2872G>A	c.(2872-2874)Gtc>Atc	p.V958I	ERBB2_ENST00000445658.2_Missense_Mutation_p.V712I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V973I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V958I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V958I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V988I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V988I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	988	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCGCTTTGTGGTCATCCAGGT	0.602		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			7	56					0	0	0	0	A	37882904	G	A	37882904	3	1	434	1	0	0	0	0	1	0	0	0	5244	1261	44	4	3056	4	ERBB2	17	37882904	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	25235376	37882904	43312306	132	85750											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38340867	38340867	+	Frame_Shift_Del	DEL	T	T	-																															aattatgaaggacgagtcccTttaccagggcctccgagagg																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:38340867delT	ENST00000436615.3	+	4	642	c.152delT	c.(151-153)ctfs	p.L51fs	RAPGEFL1_ENST00000456989.2_Frame_Shift_Del_p.L106fs|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Frame_Shift_Del_p.L51fs|RAPGEFL1_ENST00000544503.1_Frame_Shift_Del_p.L100fs	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	257	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GACGAGTCCCTTTACCAGGGC	0.567													2	4	---	---	---	---					-	38340867	T	-	38340867	7	5	434	1	0	1	0	1	0	0	0	0	13131	1609	56	0	158	0	RAPGEFL1	17	38340867	Frame_Shift_Del	DEL	T	TCGA-IQ-A61G-01A-11D-A30E-08	457963	38340867	42854343	133	85751											
C17orf53	78995	broad.mit.edu	37	chr17	42226060	42226060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccctcaaaatcgtttcCcttgtcagccattccagtct	8	12	6	15	1	3	0	2	0	1	0	6	0	5	0	4	0	2	2	4	0	2	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:42226060C>T	ENST00000319977.4	+	3	1126	c.889C>T	c.(889-891)Cct>Tct	p.P297S	C17orf53_ENST00000585683.1_Missense_Mutation_p.P297S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P297S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	297										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAATCGTTTCCCTTGTCAGCC	0.527													126	124					0	0	0	0	T	42226060	C	T	42226060	3	4	434	1	0	0	0	0	1	0	0	0	1877	623	22	4	899	4	C17orf53	17	42226060	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	3885193	42226060	38969150	134	85752											
ABCA6	23460	broad.mit.edu	37	chr17	67109491	67109491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccagtagttggttcatctAaaagcaaaatctacagagaa	17	10	7	7	0	3	1	1	0	2	1	4	2	4	1	1	1	2	4	1	1	7	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:67109491A>G	ENST00000284425.2	-	15	2087	c.1913T>C	c.(1912-1914)tTa>tCa	p.L638S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	638	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGGTTCATCTAAAAGCAAAAT	0.368													15	15					0	0	0	0	G	67109491	A	G	67109491	3	3	434	1	0	0	0	0	1	0	0	0	36	372	13	5	3040	5	ABCA6	17	67109491	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	24883431	67109491	14085719	135	85753											
ME2	4200	broad.mit.edu	37	chr18	48439269	48439269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccaattgtatatacacCgacggttggtcttgcctgct	9	13	9	10	2	1	0	0	0	1	0	1	1	1	0	3	2	4	3	3	2	5	6	rs16952692		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr18:48439269C>T	ENST00000321341.5	+	4	613	c.341C>T	c.(340-342)cCg>cTg	p.P114L	ME2_ENST00000382927.3_Missense_Mutation_p.P114L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	114			P -> L (in dbSNP:rs16952692).		malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTATATACACCGACGGTTGGT	0.328													25	52					0	0	0	0	T	48439269	C	T	48439269	3	4	434	1	0	0	0	0	1	0	0	0	9487	652	23	1	351	1	ME2	18	48439269	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08		48439269	29637979	136	85754											
CDH7	1005	broad.mit.edu	37	chr18	63477029	63477029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttcattattgatgagaaCactggggatattcatgccac	12	14	8	7	0	2	2	2	2	0	1	2	4	2	3	1	2	2	0	1	2	3	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr18:63477029C>A	ENST00000536984.2	+	3	994	c.300C>A	c.(298-300)aaC>aaA	p.N100K	CDH7_ENST00000323011.3_Missense_Mutation_p.N100K|CDH7_ENST00000397968.2_Missense_Mutation_p.N100K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	100	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTGATGAGAACACTGGGGATA	0.483													24	31					3.01185e-09	3.24874e-09	1	0	A	63477029	C	A	63477029	3	1	434	1	0	0	0	0	1	0	0	0	3144	477	17	4	306	4	CDH7	18	63477029	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	15037760	63477029	14600219	137	85755											
SALL3	27164	broad.mit.edu	37	chr18	76755393	76755393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagatccatgagcgcacGcacaccggcgagaagccgtt	10	5	12	14	5	0	3	0	1	0	2	1	4	1	3	3	1	3	4	3	1	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr18:76755393G>A	ENST00000536229.3	+	2	3496	c.2787G>A	c.(2785-2787)acG>acA	p.T929T	SALL3_ENST00000575389.2_Silent_p.T1062T|SALL3_ENST00000537592.2_Silent_p.T1134T			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATGAGCGCACGCACACCGGCG	0.682													7	4					0	0	0	0	A	76755393	G	A	76755393	2	1	434	1	0	0	0	0	0	0	0	1	13897	1074	38	1		1	SALL3	18	76755393	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	13278364	76755393	1321855	138	85756											
ZNF491	126069	broad.mit.edu	37	chr19	11917357	11917357	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgtgggaaatcattcAatttttccagttcctttcgc	9	15	9	8	1	2	0	2	0	0	0	5	2	4	2	2	2	0	1	2	2	2	5			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:11917357A>C	ENST00000323169.5	+	3	920	c.589A>C	c.(589-591)Aat>Cat	p.N197H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAAATCATTCAATTTTTCCAG	0.433													14	26					0	0	0	0	C	11917357	A	C	11917357	3	2	434	1	0	0	0	0	1	0	0	0	18037	130	5	5	591	5	ZNF491	19	11917357	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08		11917357	47211626	139	85757											
ZNF85	7639	broad.mit.edu	37	chr19	21132403	21132403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccttaccacacatgaGgtaattcatactggagagaa	15	8	8	10	0	1	2	1	1	0	1	1	4	1	3	2	2	2	2	2	2	4	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:21132403G>T	ENST00000601023.1	+	2	1552	c.906G>T	c.(904-906)gaG>gaT	p.E302D	ZNF85_ENST00000345030.6_Missense_Mutation_p.E328D|ZNF85_ENST00000328178.8_Missense_Mutation_p.E361D			Q03923	ZNF85_HUMAN	zinc finger protein 85	361						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CCACACATGAGGTAATTCATA	0.358													16	27					4.7546e-09	5.07158e-09	1	0	T	21132403	G	T	21132403	3	4	434	1	0	0	0	0	1	0	0	0	18286	991	35	4	1097	4	ZNF85	19	21132403	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	9215046	21132403	37996580	140	85758											
HAUS5	23354	broad.mit.edu	37	chr19	36109507	36109507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtgctggtctcccagCggagcaccctcctgaaggag	6	8	15	12	1	1	1	0	1	1	0	3	3	2	3	3	4	3	2	3	4	1	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:36109507C>T	ENST00000203166.5	+	12	947	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	HAUS5_ENST00000379045.2_Silent_p.S286S	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	308					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGTCTCCCAGCGGAGCACCCT	0.642													49	108					0	0	0	0	T	36109507	C	T	36109507	3	4	434	1	0	0	0	0	1	0	0	0	7019	759	27	1	968	1	HAUS5	19	36109507	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	14977104	36109507	23019476	141	85759											
ACTN4	81	broad.mit.edu	37	chr19	39219731	39219731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacttcatgtcgcgggaGaccaccgacacggacacggc	10	5	12	14	6	1	1	1	0	0	1	3	5	1	2	2	3	0	0	2	3	0	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:39219731G>T	ENST00000252699.2	+	20	2590	c.2514G>T	c.(2512-2514)gaG>gaT	p.E838D	ACTN4_ENST00000390009.3_Missense_Mutation_p.E619D|ACTN4_ENST00000424234.2_Missense_Mutation_p.E448D|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	838	EF-hand 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCGCGGGAGACCACCGACA	0.612													14	159					4.7546e-09	5.07158e-09	1	0	T	39219731	G	T	39219731	3	4	434	1	0	0	0	0	1	0	0	0	207	933	33	2	2592	2	ACTN4	19	39219731	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	3110224	39219731	19909252	142	85760											
ZNF225	7768	broad.mit.edu	37	chr19	44635586	44635586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggccttcattcatgattcCcagcttcaggaacatcaaag	13	10	7	11	0	4	1	4	1	0	0	5	2	5	2	2	2	2	1	2	2	3	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:44635586C>T	ENST00000262894.6	+	5	1099	c.819C>T	c.(817-819)tcC>tcT	p.S273S	ZNF225_ENST00000590612.1_Silent_p.S273S|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTCATGATTCCCAGCTTCAGG	0.393													56	104					0	0	0	0	T	44635586	C	T	44635586	2	4	434	1	0	0	0	0	0	0	0	1	17874	610	22	4		4	ZNF225	19	44635586	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	5415855	44635586	14493397	143	85761											
PLA2G4C	8605	broad.mit.edu	37	chr19	48608635	48608635	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagctttcagcacatgAagtcttcgtctctccacggc	8	12	8	13	2	4	2	2	1	2	1	7	2	5	2	1	1	2	2	1	1	1	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:48608635A>C	ENST00000354276.3	-	3	402	c.75T>G	c.(73-75)ctT>ctG	p.L25L	PLA2G4C_ENST00000599111.1_Silent_p.L35L|PLA2G4C_ENST00000599921.1_Silent_p.L25L|PLA2G4C_ENST00000413144.2_Silent_p.L25L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	25	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCAGCACATGAAGTCTTCGTC	0.517													97	96					0	0	0	0	C	48608635	A	C	48608635	2	2	434	1	0	0	0	0	0	0	0	1	12075	233	9	5		5	PLA2G4C	19	48608635	Silent	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	3973049	48608635	10520348	144	85762											
LIG1	3978	broad.mit.edu	37	chr19	48637295	48637295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgtgctccagcagcacggGgataattcggtccaggtcgg	7	7	15	12	4	0	0	0	0	0	0	4	1	2	1	3	5	3	3	3	5	1	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:48637295G>A	ENST00000263274.7	-	17	1971	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	LIG1_ENST00000536218.1_Missense_Mutation_p.P450S|LIG1_ENST00000427526.2_Missense_Mutation_p.P487S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	518					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCAGCACGGGGATAATTCGG	0.632								Nucleotide excision repair (NER)					3	1					0	0	0	0	A	48637295	G	A	48637295	3	1	434	1	0	0	0	0	1	0	0	0	8835	1232	43	4	1255	4	LIG1	19	48637295	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	28660	48637295	10491688	145	85763											
RRAS	6237	broad.mit.edu	37	chr19	50139087	50139087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtggtgggaggcgccgaagGcagaggcttctgatcggggg	6	6	21	8	4	1	2	0	1	1	1	2	4	1	3	1	7	0	2	1	7	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:50139087G>A	ENST00000246792.3	-	5	578	c.476C>T	c.(475-477)gCc>gTc	p.A159V		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	159					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGCGCCGAAGGCAGAGGCTTC	0.657													19	28					0	0	0	0	A	50139087	G	A	50139087	3	1	434	1	0	0	0	0	1	0	0	0	13761	1203	42	4	188	4	RRAS	19	50139087	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1501792	50139087	8989896	146	85764											
ZNF845	91664	broad.mit.edu	37	chr19	53855241	53855241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcatactggagagaaacCttacaaatgtgaagaatgtg	16	10	9	6	0	1	3	1	1	0	2	1	5	1	4	1	1	3	0	1	1	6	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:53855241C>T	ENST00000458035.1	+	4	1430	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	ZNF845_ENST00000595091.1_Missense_Mutation_p.P438L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAGAGAAACCTTACAAATGT	0.378													34	96					0	0	0	0	T	53855241	C	T	53855241	3	4	434	1	0	0	0	0	1	0	0	0	18284	681	24	4	1323	4	ZNF845	19	53855241	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	3716154	53855241	5273742	147	85765											
EPN1	29924	broad.mit.edu	37	chr19	56190148	56190148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcacctacaacgttgtcgCcttctcggagatcatgagca	9	10	8	14	3	3	2	2	1	1	1	5	3	3	2	3	1	3	2	3	1	2	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:56190148C>T	ENST00000411543.2	+	3	1035	c.488C>T	c.(487-489)gCc>gTc	p.A163V	EPN1_ENST00000270460.6_Missense_Mutation_p.A52V|EPN1_ENST00000085079.7_Missense_Mutation_p.A52V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	52					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		AACGTTGTCGCCTTCTCGGAG	0.582													18	40					0	0	0	0	T	56190148	C	T	56190148	3	4	434	1	0	0	0	0	1	0	0	0	5223	739	26	4	498	4	EPN1	19	56190148	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	2334907	56190148	2938835	148	85766											
ZNF835	90485	broad.mit.edu	37	chr19	57176562	57176562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgacgctcaagagtcccTccatcctcgatccctgggct	6	8	11	16	3	1	1	1	0	0	1	6	3	5	1	4	2	0	2	4	2	1	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:57176562T>C	ENST00000537055.2	-	2	236	c.5A>G	c.(4-6)gAg>gGg	p.E2G		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAAGAGTCCCTCCATCCTCGA	0.498													12	45					0	0	0	0	C	57176562	T	C	57176562	3	2	434	1	0	0	0	0	1	0	0	0	18279	1551	54	5	1610	5	ZNF835	19	57176562	Missense_Mutation	SNP	T	TCGA-IQ-A61G-01A-11D-A30E-08	986414	57176562	1952421	149	85767											
PLCB1	23236	broad.mit.edu	37	chr20	8717816	8717816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgaatcctgtctgggaaGaagaacctattgtgttcaaa	12	12	10	7	0	2	3	1	1	1	2	3	4	3	4	2	1	1	1	2	1	6	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:8717816G>C	ENST00000378641.3	+	20	2660	c.2185G>C	c.(2185-2187)Gaa>Caa	p.E729Q	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E729Q|PLCB1_ENST00000338037.6_Missense_Mutation_p.E729Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	729	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCTGGGAAGAAGAACCTAT	0.378													15	92					0	0	0	0	C	8717816	G	C	8717816	3	2	434	1	0	0	0	0	1	0	0	0	12099	943	33	2	2263	2	PLCB1	20	8717816	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		8717816	54307704	150	85768											
KIF16B	55614	broad.mit.edu	37	chr20	16359864	16359864	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctctgtcaagaatttcaAatgctctctgcttttcttcc	7	16	6	12	0	5	1	2	0	3	1	7	1	6	1	2	1	2	2	2	1	3	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:16359864A>C	ENST00000354981.2	-	19	2940	c.2783T>G	c.(2782-2784)tTt>tGt	p.F928C	KIF16B_ENST00000355755.3_Missense_Mutation_p.F928C|KIF16B_ENST00000408042.1_Missense_Mutation_p.F928C|KIF16B_ENST00000378003.2_Missense_Mutation_p.F154C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	928	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAGAATTTCAAATGCTCTCTG	0.438													22	91					0	0	0	0	C	16359864	A	C	16359864	3	2	434	1	0	0	0	0	1	0	0	0	8329	14	1	5	1202	5	KIF16B	20	16359864	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	7642048	16359864	46665656	151	85769											
SEC23B	10483	broad.mit.edu	37	chr20	18523812	18523812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggaccgacaactcatccGactggtaaattggggacagt	11	8	12	10	2	1	0	1	0	0	0	2	4	2	2	2	4	1	2	2	4	3	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:18523812G>A	ENST00000336714.3	+	14	2093	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	SEC23B_ENST00000377465.1_Missense_Mutation_p.R554Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.R554Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.R554Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	554					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CAACTCATCCGACTGGTAAAT	0.507													97	80					0	0	0	0	A	18523812	G	A	18523812	3	1	434	1	0	0	0	0	1	0	0	0	14079	1058	37	1	1711	1	SEC23B	20	18523812	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	2163948	18523812	44501708	152	85770											
C20orf26	26074	broad.mit.edu	37	chr20	20278851	20278851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactagtaaccggcagtgcGaaaaatgggacttacttccg	13	8	11	9	3	0	0	0	0	0	0	1	3	1	1	2	2	4	2	2	2	6	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:20278851G>A	ENST00000245957.5	+	25	3319	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1081										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCGGCAGTGCGAAAAATGGGA	0.428													25	65					0	0	0	0	A	20278851	G	A	20278851	2	1	434	1	0	0	0	0	0	0	0	1	2126	1045	37	1		1	C20orf26	20	20278851	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	1755039	20278851	42746669	153	85771											
THBD	7056	broad.mit.edu	37	chr20	23028618	23028618	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcacgagccccacggcCggaggagtcaaggtggagcc	10	3	16	12	3	1	0	1	0	0	0	1	5	1	3	4	5	3	1	4	5	2	0			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:23028618C>A	ENST00000377103.2	-	1	1760	c.1524G>T	c.(1522-1524)ccG>ccT	p.P508P		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	508					blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GCCCCACGGCCGGAGGAGTCA	0.682													24	11					6.21321e-17	7.18637e-17	1	0	A	23028618	C	A	23028618	2	1	434	1	0	0	0	0	0	0	0	1	15946	639	23	3		3	THBD	20	23028618	Silent	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	2749767	23028618	39996902	154	85772											
CHAF1B	8208	broad.mit.edu	37	chr21	37781744	37781744	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccggtctactttgaactGaggccagtggtggaaacagg	9	10	14	8	1	1	2	0	2	1	0	2	3	2	3	2	5	3	0	2	5	3	2			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr21:37781744G>T	ENST00000314103.4	+	10	1051	c.900G>T	c.(898-900)ctG>ctT	p.L300L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	300					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						ACTTTGAACTGAGGCCAGTGG	0.498													70	139					1.52378e-38	1.81718e-38	1	0	T	37781744	G	T	37781744	2	4	434	1	0	0	0	0	0	0	0	1	3341	1277	45	2		2	CHAF1B	21	37781744	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08		37781744	10348151	155	85773											
DSCAM	1826	broad.mit.edu	37	chr21	41741077	41741077	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcgtctctccggtgtatcGatgccgcgtgatgcagcggt	4	11	13	13	6	1	1	0	1	1	0	5	2	2	1	3	2	3	2	3	2	1	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr21:41741077G>A	ENST00000400454.1	-	4	1081	c.604C>T	c.(604-606)Cga>Tga	p.R202*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	202	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGGTGTATCGATGCCGCGTG	0.428													15	27					0	0	0	0	A	41741077	G	A	41741077	4	1	434	1	0	0	0	0	0	1	0	0	4804	1066	37	1	5554	1	DSCAM	21	41741077	Nonsense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	3959333	41741077	6388818	156	85774											
MICAL3	57553	broad.mit.edu	37	chr22	18368670	18368670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtatgccgatggactgtgCgggcgcattctcttcaaatt	7	12	11	11	4	2	0	1	0	1	0	3	2	2	1	2	2	2	2	2	2	2	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr22:18368670C>T	ENST00000441493.2	-	16	2567	c.2215G>A	c.(2215-2217)Gca>Aca	p.A739T	MICAL3_ENST00000444520.1_Missense_Mutation_p.A739T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A739T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A739T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A739T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A739T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A739T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A739T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	739						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATGGACTGTGCGGGCGCATTC	0.542													4	139					0	0	0	0	T	18368670	C	T	18368670	3	4	434	1	0	0	0	0	1	0	0	0	9640	768	27	1	4598	1	MICAL3	22	18368670	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08		18368670	32935896	157	85775											
P2RY8	286530	broad.mit.edu	37	chrX	1585382	1585382	+	Frame_Shift_Del	DEL	C	C	-																															gtacaccacgggcagggccaCcgcgatcgccgggttccgca																										TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:1585382delC	ENST00000381297.4	-	2	280	c.70delG	c.(70-72)tgfs	p.V24fs	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	24						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCAGGGCCACCGCGATCGCC	0.706			T	CRLF2	"B-ALL, Downs associated ALL"								25	26	---	---	---	---					-	1585382	C	-	1585382	7	5	434	1	0	1	0	1	0	0	0	0	11426	507	18	0	1013	0	P2RY8	23	1585382	Frame_Shift_Del	DEL	C	TCGA-IQ-A61G-01A-11D-A30E-08		1585382	153685178	158	85776											
EIF1AX	1964	broad.mit.edu	37	chrX	20156731	20156731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacccctgcgtctgtttttaCctcctttacctgatggttta	5	18	6	12	1	1	1	0	1	1	0	2	1	2	1	5	1	4	2	5	1	4	8			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313													36	9					0	0	0	0	T	20156731	C	T	20156731	3	4	434	1	0	0	0	0	1	0	0	0	5028	507	18	4	432	4	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	18571349	20156731	135113829	159	85777											
FAM47B	170062	broad.mit.edu	37	chrX	34962546	34962546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactgggacaggagacgccGggcggcaccgcattcttata	10	7	13	11	4	1	1	0	0	1	1	1	3	1	2	2	4	1	2	2	4	3	4			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:34962546G>A	ENST00000329357.5	+	1	1634	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	533										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGGAGACGCCGGGCGGCACCG	0.502													38	17					0	0	0	0	A	34962546	G	A	34962546	3	1	434	1	0	0	0	0	1	0	0	0	5617	1116	39	1	1600	1	FAM47B	23	34962546	Missense_Mutation	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	14805815	34962546	120308014	160	85778											
CCNB3	85417	broad.mit.edu	37	chrX	50054268	50054268	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaaggagccattggccttAcaagagagtcccacctgcaa	12	8	9	12	0	1	1	1	0	0	1	2	3	2	2	4	2	3	1	4	2	4	3			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:50054268A>G	ENST00000376042.1	+	6	3397	c.3099A>G	c.(3097-3099)ttA>ttG	p.L1033L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L1033L|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1033					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CATTGGCCTTACAAGAGAGTC	0.478													37	15					0	0	0	0	G	50054268	A	G	50054268	2	3	434	1	0	0	0	0	0	0	0	1	2943	388	14	5		5	CCNB3	23	50054268	Silent	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	15091722	50054268	105216292	161	85779											
NAP1L2	4674	broad.mit.edu	37	chrX	72432954	72432954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatactctgctctaacgatCaatgtcttctactaatgcct	10	15	5	11	1	5	0	1	0	4	0	5	1	5	0	1	0	5	2	1	0	6	6			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:72432954C>A	ENST00000373517.3	-	1	1730	c.1375G>T	c.(1375-1377)Gat>Tat	p.D459Y	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D317Y	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	459					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCTAACGATCAATGTCTTCT	0.348													16	15					1.3612e-06	1.41271e-06	1	0	A	72432954	C	A	72432954	3	1	434	1	0	0	0	0	1	0	0	0	10227	826	29	2	11	2	NAP1L2	23	72432954	Missense_Mutation	SNP	C	TCGA-IQ-A61G-01A-11D-A30E-08	22378686	72432954	82837606	162	85780											
CT47B1	643311	broad.mit.edu	37	chrX	120008774	120008774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccacggcctcctctgAggtcggttcctctgcggccg	2	8	16	15	4	2	1	0	1	2	0	5	1	4	1	5	6	1	1	5	6	0	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:120008774A>T	ENST00000371311.3	-	1	1005	c.751T>A	c.(751-753)Tca>Aca	p.S251T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	251										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCTCCTCTGAGGTCGGTTCC	0.701													106	29					0	0	0	0	T	120008774	A	T	120008774	3	4	434	1	0	0	0	0	1	0	0	0	4021	304	11	5	156	5	CT47B1	23	120008774	Missense_Mutation	SNP	A	TCGA-IQ-A61G-01A-11D-A30E-08	47575820	120008774	35261786	163	85781											
SLITRK4	139065	broad.mit.edu	37	chrX	142717515	142717515	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcaaatttggcatggaGtcaaaggtgcctgctgagat	12	10	12	7	0	1	1	1	1	0	1	1	3	1	2	1	3	4	3	1	3	3	1			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:142717515G>A	ENST00000381779.4	-	2	1635	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	SLITRK4_ENST00000356928.1_Silent_p.D470D|SLITRK4_ENST00000338017.4_Silent_p.D470D	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	470						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCATGGAGTCAAAGGTGC	0.393													31	16					0	0	0	0	A	142717515	G	A	142717515	2	1	434	1	0	0	0	0	0	0	0	1	14833	1020	36	4		4	SLITRK4	23	142717515	Silent	SNP	G	TCGA-IQ-A61G-01A-11D-A30E-08	22708741	142717515	12553045	164	85782											
SKI	6497	broad.mit.edu	37	chr1	2235348	2235348	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgcaccgccggcccagcaGaaggttgtgagcagccctcc	7	5	12	17	3	0	2	0	1	0	1	2	2	1	2	5	2	3	4	5	2	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:2235348G>A	ENST00000378536.4	+	4	1353	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	427					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGGCCCAGCAGAAGGTTGTGA	0.687													5	22					0	0	0	0	A	2235348	G	A	2235348	2	1	435	1	0	0	0	0	0	0	0	1	14445	933	33	2		2	SKI	1	2235348	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		2235348	247015273	1	85783											
CSMD2	114784	broad.mit.edu	37	chr1	34204889	34204889	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtccccaaaccgtttGccatttactggaacgccagg	9	9	10	13	2	0	0	0	0	0	0	1	1	1	1	5	3	4	2	5	3	3	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:34204889G>T	ENST00000373381.4	-	15	2396	c.2220C>A	c.(2218-2220)ggC>ggA	p.G740G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	700	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAAACCGTTTGCCATTTACTG	0.547													18	77					2.94398e-08	3.23692e-08	1	0	T	34204889	G	T	34204889	2	4	435	1	0	0	0	0	0	0	0	1	3977	1306	46	4		4	CSMD2	1	34204889	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	31969541	34204889	215045732	2	85784											
NCDN	23154	broad.mit.edu	37	chr1	36030832	36030832	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgttaccttgcagctctTcagggaacaccagcatcccg	8	10	8	15	2	2	0	1	0	1	0	4	1	4	1	4	1	5	4	4	1	2	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:36030832T>G	ENST00000373243.2	+	7	2141	c.1758T>G	c.(1756-1758)ctT>ctG	p.L586L	NCDN_ENST00000373253.3_Silent_p.L569L|NCDN_ENST00000356090.4_Silent_p.L586L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	586					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCAGCTCTTCAGGGAACAC	0.612											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	132					0	0	0	0	G	36030832	T	G	36030832	2	3	435	1	0	0	0	0	0	0	0	1	10284	1770	62	5		5	NCDN	1	36030832	Silent	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	1825943	36030832	213219789	3	85785											
YRDC	79693	broad.mit.edu	37	chr1	38269639	38269639	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagcagtccgtacttctgTtggaggatggctgtagtact	7	12	15	7	1	1	0	0	0	1	0	2	3	2	3	1	4	3	6	1	4	3	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:38269639T>A	ENST00000373044.2	-	5	802	c.798A>T	c.(796-798)caA>caT	p.Q266H		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	266					negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTACTTCTGTTGGAGGATGG	0.552													17	45					0	0	0	0	A	38269639	T	A	38269639	3	1	435	1	0	0	0	0	1	0	0	0	17590	1722	60	5	45	5	YRDC	1	38269639	Missense_Mutation	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	2238807	38269639	210980982	4	85786											
LRP8	7804	broad.mit.edu	37	chr1	53722976	53722976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgatgctgggagccctgggGacactaactgagcttgggac	8	8	15	10	0	0	2	0	2	0	0	0	5	0	5	1	4	4	2	1	4	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:53722976G>A	ENST00000306052.6	-	15	2471	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V	LRP8_ENST00000465675.1_Silent_p.V343V|LRP8_ENST00000371454.2_Silent_p.V790V|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.V620V	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	790	Clustered O-linked oligosaccharides.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GAGCCCTGGGGACACTAACTG	0.572													4	63					0	0	0	0	A	53722976	G	A	53722976	2	1	435	1	0	0	0	0	0	0	0	1	9027	1161	41	2		2	LRP8	1	53722976	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	15453337	53722976	195527645	5	85787											
DNAJB4	11080	broad.mit.edu	37	chr1	78470850	78470853	+	Frame_Shift_Del	DEL	ATAT	ATAT	-																															gaaaggagcttcagatgaagAtattaaaaaggcttaccgaa																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:78470850_78470853delATAT	ENST00000370763.5	+	1	313_316	c.56_59delATAT	c.(55-60)gtfs	p.DI19fs	DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	19	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TCAGATGAAGATATTAAAAAGGCT	0.363													41	123	---	---	---	---					-	78470853	ATAT	-	78470850	7	5	435	1	0	1	0	1	0	0	0	0	4658	333	12	0	58	0	DNAJB4	1	78470850	Frame_Shift_Del	DEL	ATAT	TCGA-IQ-A61H-01A-11D-A30E-08	24747874	78470850	170779771	6	85788											
VPS45	11311	broad.mit.edu	37	chr1	150048364	150048364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcattggctgaagctgatGaacaggaagttgtggctgag	11	10	15	5	0	1	4	1	4	0	0	1	5	1	5	0	3	2	4	0	3	3	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:150048364G>A	ENST00000369130.3	+	4	889	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	VPS45_ENST00000369128.5_Missense_Mutation_p.E79K|VPS45_ENST00000535106.1_Missense_Mutation_p.E115K	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	115					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAAGCTGATGAACAGGAAGT	0.383													42	87					0	0	0	0	A	150048364	G	A	150048364	3	1	435	1	0	0	0	0	1	0	0	0	17307	1291	45	2	357	2	VPS45	1	150048364	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	71577514	150048364	99202257	7	85789											
NPR1	4881	broad.mit.edu	37	chr1	153659173	153659173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtttgtgggagcctgcaccGacccccccaatatctgcatc	7	9	10	15	1	1	0	0	0	1	0	2	2	1	1	5	2	3	3	5	2	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:153659173G>A	ENST00000368680.3	+	11	2282	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	604	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGCCTGCACCGACCCCCCCAA	0.592													30	142					0	0	0	0	A	153659173	G	A	153659173	3	1	435	1	0	0	0	0	1	0	0	0	10665	1058	37	1	1852	1	NPR1	1	153659173	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	3610809	153659173	95591448	8	85790											
PAQR6	79957	broad.mit.edu	37	chr1	156213684	156213684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcatgcatctcccctctcaGaccctcagcacttcttccac	7	10	4	20	1	4	1	2	0	3	1	7	1	5	1	4	0	2	3	4	0	0	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:156213684G>C	ENST00000335852.1	-	7	1639	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000360733.2_Missense_Mutation_p.L342V|PAQR6_ENST00000356983.2_Missense_Mutation_p.L342V|PAQR6_ENST00000292291.5_3'UTR|PAQR6_ENST00000492619.1_5'UTR	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	0						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					TCCCCTCTCAGACCCTCAGCA	0.587													97	492					0	0	0	0	C	156213684	G	C	156213684	3	2	435	1	0	0	0	0	1	0	0	0	11510	933	33	2	35	2	PAQR6	1	156213684	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	2554511	156213684	93036937	9	85791											
FCRL5	83416	broad.mit.edu	37	chr1	157514217	157514217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcatctctgaagaagcGgaaccggagcgggacatctg	10	7	14	10	3	3	2	1	1	2	1	4	5	3	5	1	4	3	0	1	4	3	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:157514217G>A	ENST00000361835.3	-	5	836	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	FCRL5_ENST00000368191.3_Missense_Mutation_p.R142C|FCRL5_ENST00000368189.3_Missense_Mutation_p.R227C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R227C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R227C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	227	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGAAGAAGCGGAACCGGAGC	0.562													43	229					0	0	0	0	A	157514217	G	A	157514217	3	1	435	1	0	0	0	0	1	0	0	0	5843	1116	39	1	2306	1	FCRL5	1	157514217	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	1300533	157514217	91736404	10	85792											
FCRL4	83417	broad.mit.edu	37	chr1	157556153	157556153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggtatcccctgtgccttCagccacggagcagacaagga	9	8	12	12	1	1	1	1	0	0	1	2	3	2	3	4	3	3	2	4	3	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:157556153C>T	ENST00000271532.1	-	6	1075	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	314	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCTGTGCCTTCAGCCACGGAG	0.612													6	122					0	0	0	0	T	157556153	C	T	157556153	3	4	435	1	0	0	0	0	1	0	0	0	5842	835	29	2	635	2	FCRL4	1	157556153	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	41936	157556153	91694468	11	85793											
HSPA6	3310	broad.mit.edu	37	chr1	161495172	161495172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaaccggctcgtgaacCacttcatggaagaattccgg	11	8	10	12	4	1	2	1	1	0	1	4	4	2	3	3	3	2	1	3	3	4	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:161495172C>T	ENST00000309758.4	+	1	1137	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	242					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCTCGTGAACCACTTCATGGA	0.602													13	33					0	0	0	0	T	161495172	C	T	161495172	3	4	435	1	0	0	0	0	1	0	0	0	7467	594	21	4	726	4	HSPA6	1	161495172	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	3939019	161495172	87755449	12	85794											
CACNA1E	777	broad.mit.edu	37	chr1	181726170	181726173	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															actttgtggtcttccccttcTtctttgtcaatatctttgtg																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:181726170_181726173delTTCT	ENST00000526775.1	+	29	4345_4348	c.4180_4183delTTCT	c.(4180-4185)ttfs	p.FF1394fs	CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.FF1413fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.FF1345fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.FF1020fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.FF1394fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.FF1364fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.FF1413fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1413					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1414L(1)		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						CTTCCCCTTCTTCTTTGTCAATAT	0.475													29	73	---	---	---	---					-	181726173	TTCT	-	181726170	7	5	435	1	0	1	0	1	0	0	0	0	2567	1609	56	0	4355	0	CACNA1E	1	181726170	Frame_Shift_Del	DEL	TTCT	TCGA-IQ-A61H-01A-11D-A30E-08	20230998	181726170	67524451	13	85795											
UCHL5	51377	broad.mit.edu	37	chr1	192998768	192998768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcactatggcttgagtaGcacaagcattattaattacc	13	12	6	10	0	1	1	1	1	0	0	1	1	1	1	1	1	3	4	1	1	6	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:192998768G>C	ENST00000367455.3	-	4	501	c.266C>G	c.(265-267)gCt>gGt	p.A89G	UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367449.1_Missense_Mutation_p.A89G|UCHL5_ENST00000367448.1_Missense_Mutation_p.A89G|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000367454.1_Missense_Mutation_p.A89G|UCHL5_ENST00000367451.4_Missense_Mutation_p.A89G	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	89					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GGCTTGAGTAGCACAAGCATT	0.323													5	26					0	0	0	0	C	192998768	G	C	192998768	3	2	435	1	0	0	0	0	1	0	0	0	17018	971	34	4	755	4	UCHL5	1	192998768	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	11272598	192998768	56251853	14	85796											
UCHL5	51377	broad.mit.edu	37	chr1	193028340	193028340	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttaatgagctcggtgaaGaccccggggtcgctttccat	7	11	11	12	3	0	3	0	2	0	1	3	3	1	3	4	3	1	2	4	3	2	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:193028340G>C	ENST00000367455.3	-	1	286	c.51C>G	c.(49-51)gtC>gtG	p.V17V	UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367449.1_Silent_p.V17V|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367448.1_Silent_p.V17V|UCHL5_ENST00000367452.4_Intron|UCHL5_ENST00000367454.1_Silent_p.V17V|UCHL5_ENST00000367451.4_Silent_p.V17V	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	17					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GCTCGGTGAAGACCCCGGGGT	0.662													7	36					0	0	0	0	C	193028340	G	C	193028340	2	2	435	1	0	0	0	0	0	0	0	1	17018	929	33	2		2	UCHL5	1	193028340	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	29572	193028340	56222281	15	85797											
CRB1	23418	broad.mit.edu	37	chr1	197404200	197404200	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcacaattgctactggAagcctcaactttttgaagga	13	10	8	10	0	1	1	1	1	0	0	1	3	1	3	2	2	5	2	2	2	5	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:197404200A>C	ENST00000367397.1	+	5	2208	c.1350A>C	c.(1348-1350)ggA>ggC	p.G450G	CRB1_ENST00000535699.1_Silent_p.G1045G|CRB1_ENST00000367399.2_Silent_p.G957G|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.G550G|CRB1_ENST00000367400.3_Silent_p.G1069G			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1069	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCTACTGGAAGCCTCAACT	0.443													4	118					0	0	0	0	C	197404200	A	C	197404200	2	2	435	1	0	0	0	0	0	0	0	1	3878	233	9	5		5	CRB1	1	197404200	Silent	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08	4375860	197404200	51846421	16	85798											
CACNA1S	779	broad.mit.edu	37	chr1	201061191	201061191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcctttgctgctcattggGgctgtgtggctttggatgac	3	15	14	9	0	1	1	1	1	0	0	2	2	2	2	1	4	2	5	1	4	0	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:201061191G>A	ENST00000362061.3	-	4	676	c.450C>T	c.(448-450)gcC>gcT	p.A150A	CACNA1S_ENST00000367338.3_Silent_p.A150A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	150					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCTCATTGGGGCTGTGTGGC	0.597													37	82					0	0	0	0	A	201061191	G	A	201061191	2	1	435	1	0	0	0	0	0	0	0	1	2572	1219	43	4		4	CACNA1S	1	201061191	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	3656991	201061191	48189430	17	85799											
OR2G2	81470	broad.mit.edu	37	chr1	247751914	247751914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgttattccccagctcCtggtaaacctgtgggaaccc	8	10	10	13	0	0	0	0	0	0	0	2	1	2	1	5	2	3	4	5	2	4	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:247751914C>A	ENST00000320065.1	+	1	253	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	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	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TCCCCAGCTCCTGGTAAACCT	0.512													10	171					4.68919e-08	5.13025e-08	1	0	A	247751914	C	A	247751914	3	1	435	1	0	0	0	0	1	0	0	0	11069	680	24	4	255	4	OR2G2	1	247751914	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	46690723	247751914	1498707	18	85800											
OR14A16	284532	broad.mit.edu	37	chr1	247978594	247978594	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagacccccatacagccaAgacacagtggctctttggac	12	7	8	14	0	2	2	1	0	1	2	2	3	2	3	3	2	2	1	3	2	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:247978594A>T	ENST00000357627.1	-	1	437	c.438T>A	c.(436-438)tcT>tcA	p.S146S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CATACAGCCAAGACACAGTGG	0.502													12	179					0	0	0	0	T	247978594	A	T	247978594	2	4	435	1	0	0	0	0	0	0	0	1	11016	59	3	5		5	OR14A16	1	247978594	Silent	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08	226680	247978594	1272027	19	85801											
XDH	7498	broad.mit.edu	37	chr2	31570414	31570414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgtccattgaggtcagCgctgacagaggcagccgtgg	7	7	16	11	2	1	3	1	2	0	1	2	3	2	3	3	4	2	2	3	4	0	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:31570414C>T	ENST00000379416.3	-	29	3298	c.3250G>A	c.(3250-3252)Gct>Act	p.A1084T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1084					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTGAGGTCAGCGCTGACAGAG	0.587													4	118					0	0	0	0	T	31570414	C	T	31570414	3	4	435	1	0	0	0	0	1	0	0	0	17522	768	27	1	783	1	XDH	2	31570414	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08		31570414	211628959	20	85802											
CEP68	23177	broad.mit.edu	37	chr2	65301482	65301482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagatgttactgaccacGggactgcagccaggtccaat	10	9	11	11	1	0	2	0	1	0	1	1	3	1	3	3	2	4	3	3	2	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:65301482G>A	ENST00000377990.2	+	4	2154	c.1951G>A	c.(1951-1953)Ggg>Agg	p.G651R	CEP68_ENST00000537589.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.G514R|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.G651R|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	651					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TACTGACCACGGGACTGCAGC	0.483													4	81					0	0	0	0	A	65301482	G	A	65301482	3	1	435	1	0	0	0	0	1	0	0	0	3287	1116	39	1	1961	1	CEP68	2	65301482	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	33731068	65301482	177897891	21	85803											
WDR92	116143	broad.mit.edu	37	chr2	68358543	68358543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcccatttctattccctCagaatctttctttgaccgct	7	16	4	14	1	4	2	1	1	3	1	6	3	6	2	3	0	0	1	3	0	2	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:68358543C>T	ENST00000295121.6	-	8	1017	c.901G>A	c.(901-903)Gag>Aag	p.E301K	WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	301					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TCTATTCCCTCAGAATCTTTC	0.393													6	92					0	0	0	0	T	68358543	C	T	68358543	3	4	435	1	0	0	0	0	1	0	0	0	17435	835	29	2	176	2	WDR92	2	68358543	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	3057061	68358543	174840830	22	85804											
TPRKB	51002	broad.mit.edu	37	chr2	73961564	73961564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttatatttaccactgtagGatttatcagtgatccatcga	12	16	6	7	1	1	1	1	1	0	0	3	3	2	2	2	1	1	1	2	1	5	8			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:73961564G>A	ENST00000318190.7	-	2	253	c.133C>T	c.(133-135)Cct>Tct	p.P45S	TPRKB_ENST00000409716.2_Missense_Mutation_p.P45S|TPRKB_ENST00000272424.5_Missense_Mutation_p.P45S			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	45					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						ACCACTGTAGGATTTATCAGT	0.468													32	57					0	0	0	0	A	73961564	G	A	73961564	3	1	435	1	0	0	0	0	1	0	0	0	16515	1174	41	2	410	2	TPRKB	2	73961564	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	5603021	73961564	169237809	23	85805											
IL1B	3553	broad.mit.edu	37	chr2	113591057	113591057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggccacaacaactgaCgcggcctgcctgaagccctt	9	7	9	16	2	0	2	0	2	0	0	1	2	1	2	5	2	4	0	5	2	3	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:113591057C>T	ENST00000263341.2	-	4	405	c.195G>A	c.(193-195)gcG>gcA	p.A65A	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	65					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CAACAACTGACGCGGCCTGCC	0.582													28	143					0	0	0	0	T	113591057	C	T	113591057	2	4	435	1	0	0	0	0	0	0	0	1	7704	523	19	1		1	IL1B	2	113591057	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	39629493	113591057	129608316	24	85806											
CACNB4	785	broad.mit.edu	37	chr2	152954850	152954850	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccttctcatacctgtctGaggatgaagctggtcgaagt	8	12	10	11	1	2	2	1	2	2	0	5	4	3	3	3	2	2	1	3	2	3	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:152954850G>C	ENST00000539935.1	-	2	208	c.141C>G	c.(139-141)ctC>ctG	p.L47L	AC079790.2_ENST00000420365.1_RNA|CACNB4_ENST00000427385.1_Silent_p.L29L|CACNB4_ENST00000201943.5_Silent_p.L47L	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	47					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATACCTGTCTGAGGATGAAGC	0.677													5	147					0	0	0	0	C	152954850	G	C	152954850	2	2	435	1	0	0	0	0	0	0	0	1	2580	1277	45	2		2	CACNB4	2	152954850	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	39363793	152954850	90244523	25	85807											
DPP4	1803	broad.mit.edu	37	chr2	162865097	162865097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcccaccgggatacaggCgccacggctattccacactt	9	8	8	16	3	0	0	0	0	0	0	2	1	2	1	4	3	2	1	4	3	3	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:162865097C>T	ENST00000360534.3	-	22	2522	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	654					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GGGATACAGGCGCCACGGCTA	0.468													19	74					0	0	0	0	T	162865097	C	T	162865097	2	4	435	1	0	0	0	0	0	0	0	1	4765	755	27	1		1	DPP4	2	162865097	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	9910247	162865097	80334276	26	85808											
SCN9A	6335	broad.mit.edu	37	chr2	167089911	167089911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagctctcagtgtccgaaggGatttaatggggccaagatct	11	10	12	8	1	2	1	1	0	2	1	4	3	3	2	2	3	1	1	2	3	4	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:167089911G>A	ENST00000303354.6	-	21	4206	c.3866C>T	c.(3865-3867)tCc>tTc	p.S1289F	SCN9A_ENST00000409672.1_Missense_Mutation_p.S1277F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1288F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1289F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1288						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGTCCGAAGGGATTTAATGGG	0.323													5	29					0	0	0	0	A	167089911	G	A	167089911	3	1	435	1	0	0	0	0	1	0	0	0	14012	1174	41	2	2131	2	SCN9A	2	167089911	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	4224814	167089911	76109462	27	85809											
CHN1	1123	broad.mit.edu	37	chr2	175677211	175677211	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaacattcaaaccacaatCtaagaaaagaataaagaaag	24	6	5	6	0	2	4	1	1	1	3	2	4	2	4	1	0	2	0	1	0	10	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:175677211C>G	ENST00000409900.3	-	9	1026		c.e9-1		CHN1_ENST00000488080.1_Splice_Site|CHN1_ENST00000409597.1_Splice_Site|CHN1_ENST00000409156.3_Splice_Site|CHN1_ENST00000295497.7_Splice_Site	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AAACCACAATCTAAGAAAAGA	0.368			T	TAF15	extraskeletal myxoid chondrosarcoma								12	48					0	0	0	0	G	175677211	C	G	175677211	5	3	435	1	0	0	0	0	0	0	1	0	3391	927	32	2	687	2	CHN1	2	175677211	Splice_Site	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	8587300	175677211	67522162	28	85810											
NFE2L2	4780	broad.mit.edu	37	chr2	178098960	178098960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgacttactccaagatCtatatcttgcctccaaagta	11	14	4	12	1	3	1	0	0	3	1	6	2	5	1	3	0	2	1	3	0	6	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:178098960C>A	ENST00000397062.3	-	2	639	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13Y|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			9	34					7.48243e-07	7.98849e-07	1	0	A	178098960	C	A	178098960	3	1	435	1	0	0	0	0	1	0	0	0	10438	913	32	2	1748	2	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	2421749	178098960	65100413	29	85811											
TTN	7273	broad.mit.edu	37	chr2	179642012	179642012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgacatttttcagtttttCtacaaacatcggttttacct	10	19	4	8	1	2	1	1	1	1	0	3	1	2	1	1	1	3	2	1	1	3	8			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:179642012C>T	ENST00000589042.1	-	27	4902	c.4678G>A	c.(4678-4680)Gaa>Aaa	p.E1560K	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E1560K|TTN_ENST00000342175.6_Missense_Mutation_p.E1514K|TTN_ENST00000359218.5_Missense_Mutation_p.E1514K|TTN_ENST00000360870.5_Missense_Mutation_p.E1560K|TTN_ENST00000460472.2_Missense_Mutation_p.E1514K|TTN_ENST00000342992.6_Missense_Mutation_p.E1560K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1295	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGTTTTTCTACAAACATC	0.393													11	43					0	0	0	0	T	179642012	C	T	179642012	3	4	435	1	0	0	0	0	1	0	0	0	16831	922	32	2	106654	2	TTN	2	179642012	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	1543052	179642012	63557361	30	85812											
DYTN	391475	broad.mit.edu	37	chr2	207527900	207527900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagtggtctctggtgattCtggatttcgcagagcatgct	8	13	12	8	1	2	2	0	1	2	1	4	3	2	3	0	3	2	3	0	3	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:207527900C>G	ENST00000452335.2	-	11	1476	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	454						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCTGGTGATTCTGGATTTCGC	0.483													22	39					0	0	0	0	G	207527900	C	G	207527900	3	3	435	1	0	0	0	0	1	0	0	0	4897	922	32	2	384	2	DYTN	2	207527900	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	27885888	207527900	35671473	31	85813											
TATDN2	9797	broad.mit.edu	37	chr3	10290992	10290992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgatgtggccccctccagCcggccagctcagaggtctgc	5	8	13	15	1	2	2	1	1	1	1	3	2	3	2	5	3	3	1	5	3	0	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:10290992C>G	ENST00000287652.4	+	2	1159	c.108C>G	c.(106-108)agC>agG	p.S36R	TATDN2_ENST00000448281.2_Missense_Mutation_p.S36R	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	36						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCCCTCCAGCCGGCCAGCTC	0.672													8	120					0	0	0	0	G	10290992	C	G	10290992	3	3	435	1	0	0	0	0	1	0	0	0	15683	738	26	4	110	4	TATDN2	3	10290992	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08		10290992	187731438	32	85814											
CAND2	23066	broad.mit.edu	37	chr3	12861601	12861601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaggtcggccacacacccgGagcaccgtcatcacagcggt	9	4	12	16	4	2	0	2	0	0	0	3	1	2	1	3	4	2	2	3	4	0	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:12861601G>A	ENST00000456430.2	+	11	3002	c.2961G>A	c.(2959-2961)cgG>cgA	p.R987R	CAND2_ENST00000295989.5_Silent_p.R894R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	987					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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						CACACACCCGGAGCACCGTCA	0.597													22	75					0	0	0	0	A	12861601	G	A	12861601	2	1	435	1	0	0	0	0	0	0	0	1	2641	1161	41	2		2	CAND2	3	12861601	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	2570609	12861601	185160829	33	85815											
ZCWPW2	152098	broad.mit.edu	37	chr3	28454850	28454850	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtctattcacagctcccTcttggaagcctggttttggt	6	16	9	10	0	3	0	1	0	2	0	4	1	4	1	2	3	2	2	2	3	2	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:28454850T>A	ENST00000383768.2	+	3	479	c.291T>A	c.(289-291)ccT>ccA	p.P97P	ZCWPW2_ENST00000421010.1_Silent_p.P97P			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	97							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CACAGCTCCCTCTTGGAAGCC	0.363													13	131					0	0	0	0	A	28454850	T	A	28454850	2	1	435	1	0	0	0	0	0	0	0	1	17693	1538	54	5		5	ZCWPW2	3	28454850	Silent	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	15593249	28454850	169567580	34	85816											
TGFBR2	7048	broad.mit.edu	37	chr3	30691832	30691832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcccctaccatgactttAttctggaagatgctgcttct	8	14	7	12	0	2	2	0	1	2	1	3	3	3	3	3	1	4	3	3	1	3	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:30691832A>G	ENST00000295754.5	+	3	716	c.334A>G	c.(334-336)Att>Gtt	p.I112V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.I137V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	112					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCATGACTTTATTCTGGAAGA	0.433													40	70					0	0	0	0	G	30691832	A	G	30691832	3	3	435	1	0	0	0	0	1	0	0	0	15916	449	16	5	423	5	TGFBR2	3	30691832	Missense_Mutation	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08	2236982	30691832	167330598	35	85817											
VILL	50853	broad.mit.edu	37	chr3	38040429	38040429	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccaggccaagggctacccGacctacaccaacgtggaggt	11	5	11	14	2	0	0	0	0	0	0	1	2	1	1	5	4	3	1	5	4	4	2	rs35699577		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:38040429G>A	ENST00000283713.6	+	10	1235	c.969G>A	c.(967-969)ccG>ccA	p.P323P	VILL_ENST00000465644.1_Silent_p.P41P|VILL_ENST00000383759.2_Silent_p.P323P			O15195	VILL_HUMAN	villin-like	323					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGGCTACCCGACCTACACCA	0.657													8	28					0	0	0	0	A	38040429	G	A	38040429	2	1	435	1	0	0	0	0	0	0	0	1	17261	1045	37	1		1	VILL	3	38040429	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	7348597	38040429	159982001	36	85818											
PLCD1	5333	broad.mit.edu	37	chr3	38049775	38049775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacgtcccggctcacGccatggatctccactgtcac	6	8	9	18	3	3	0	2	0	1	0	5	1	4	1	4	3	0	1	4	3	0	0	rs143935807		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:38049775G>A	ENST00000463876.1	-	13	2402	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	PLCD1_ENST00000334661.4_Silent_p.G662G	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	662	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCGGCTCACGCCATGGATCT	0.567													43	124					0	0	0	0	A	38049775	G	A	38049775	2	1	435	1	0	0	0	0	0	0	0	1	12103	1074	38	1		1	PLCD1	3	38049775	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	9346	38049775	159972655	37	85819											
TTC21A	199223	broad.mit.edu	37	chr3	39156139	39156139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtgaaccagatcactGtgacttcagggagcttcctg	9	10	13	9	0	2	3	2	2	0	1	3	4	3	4	2	3	2	1	2	3	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:39156139G>A	ENST00000301819.6	+	6	799	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	TTC21A_ENST00000431162.2_Missense_Mutation_p.V208M|TTC21A_ENST00000440121.1_Missense_Mutation_p.V167M	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	208							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCAGATCACTGTGACTTCAGG	0.557													53	93					0	0	0	0	A	39156139	G	A	39156139	3	1	435	1	0	0	0	0	1	0	0	0	16783	1377	48	4	644	4	TTC21A	3	39156139	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	1106364	39156139	158866291	38	85820											
RNF123	63891	broad.mit.edu	37	chr3	49742512	49742512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgagccaaccgcttcctCagcacagcggctgtgagcct	7	6	12	16	3	1	1	1	1	0	0	2	2	2	1	5	2	5	3	5	2	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:49742512C>T	ENST00000327697.6	+	23	2199	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	RNF123_ENST00000432042.1_Silent_p.L539L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	685						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCGCTTCCTCAGCACAGCGG	0.687													7	13					0	0	0	0	T	49742512	C	T	49742512	2	4	435	1	0	0	0	0	0	0	0	1	13518	813	29	2		2	RNF123	3	49742512	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	10586373	49742512	148279918	39	85821											
ST3GAL6	10402	broad.mit.edu	37	chr3	98507004	98507004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctaatacgacagtgattCtcactgcttttaagccacat	12	12	5	12	1	1	1	1	1	1	0	2	2	1	1	2	0	3	1	2	0	3	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:98507004C>T	ENST00000265261.6	+	7	624	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.L186F|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.L186F	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	186					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GACAGTGATTCTCACTGCTTT	0.383													12	36					0	0	0	0	T	98507004	C	T	98507004	3	4	435	1	0	0	0	0	1	0	0	0	15309	913	32	2	578	2	ST3GAL6	3	98507004	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	48764492	98507004	99515426	40	85822											
EAF2	55840	broad.mit.edu	37	chr3	121554181	121554181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaccgtcgcgagcgggttCtcaagttaggggagagtttc	8	10	15	8	4	1	2	1	0	1	2	4	4	1	2	1	3	1	3	1	3	3	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:121554181C>G	ENST00000273668.2	+	1	120	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	EAF2_ENST00000451944.2_Missense_Mutation_p.L17V|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	17	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CGAGCGGGTTCTCAAGTTAGG	0.587													10	86					0	0	0	0	G	121554181	C	G	121554181	3	3	435	1	0	0	0	0	1	0	0	0	4912	913	32	2	51	2	EAF2	3	121554181	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	23047177	121554181	76468249	41	85823											
CASR	846	broad.mit.edu	37	chr3	122003928	122003928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtggagaccagcggccaGaggtggaggaccctgaagag	10	4	19	8	1	0	4	0	1	0	3	0	7	0	6	3	6	1	0	3	6	1	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:122003928G>A	ENST00000498619.1	+	7	3595	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K	CASR_ENST00000296154.5_Missense_Mutation_p.E1043K|CASR_ENST00000490131.1_Missense_Mutation_p.E1043K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1043					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGCGGCCAGAGGTGGAGGA	0.557													17	127					0	0	0	0	A	122003928	G	A	122003928	3	1	435	1	0	0	0	0	1	0	0	0	2707	943	33	2	3179	2	CASR	3	122003928	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	449747	122003928	76018502	42	85824											
ALDH1L1	10840	broad.mit.edu	37	chr3	125877269	125877269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttgatggccgaggcccctCggtgcctagggagcagtgac	7	7	16	11	2	0	2	0	2	0	0	1	4	0	3	4	4	2	2	4	4	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:125877269C>T	ENST00000393434.2	-	3	690	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.R124Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.R114Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.R114Q|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.R114Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	114	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CGAGGCCCCTCGGTGCCTAGG	0.577													3	18					0	0	0	0	T	125877269	C	T	125877269	3	4	435	1	0	0	0	0	1	0	0	0	494	884	31	1	2451	1	ALDH1L1	3	125877269	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	3873341	125877269	72145161	43	85825											
XRN1	54464	broad.mit.edu	37	chr3	142078708	142078708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgggaaatacaaaccttaTtgttaaccctccaggaaatt	15	12	6	8	0	0	0	0	0	0	0	1	2	1	2	3	2	3	1	3	2	6	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:142078708T>C	ENST00000264951.4	-	30	3577	c.3460A>G	c.(3460-3462)Ata>Gta	p.I1154V	XRN1_ENST00000392981.2_Missense_Mutation_p.I1154V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1154					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACAAACCTTATTGTTAACCCT	0.328													5	43					0	0	0	0	C	142078708	T	C	142078708	3	2	435	1	0	0	0	0	1	0	0	0	17555	1493	52	5	1712	5	XRN1	3	142078708	Missense_Mutation	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	16201439	142078708	55943722	44	85826											
XRN1	54464	broad.mit.edu	37	chr3	142089455	142089455	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaataatttcttgaacttTttcagcactaaagcaaaaac	17	13	4	7	0	2	1	1	1	1	0	2	1	2	1	0	0	4	3	0	0	7	7			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:142089455T>G	ENST00000264951.4	-	27	3193	c.3076A>C	c.(3076-3078)Aaa>Caa	p.K1026Q	XRN1_ENST00000392981.2_Missense_Mutation_p.K1026Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1026					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCTTGAACTTTTTCAGCACTA	0.269													4	35					0	0	0	0	G	142089455	T	G	142089455	3	3	435	1	0	0	0	0	1	0	0	0	17555	1850	64	5	2108	5	XRN1	3	142089455	Missense_Mutation	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	10747	142089455	55932975	45	85827											
OPA1	4976	broad.mit.edu	37	chr3	193382668	193382668	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcttttttctcattttaGattaaggatacttggcatca	9	20	5	7	0	3	1	2	0	2	1	4	2	3	2	0	2	1	1	0	2	3	9			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:193382668G>A	ENST00000361510.2	+	27	2895		c.e27-1		OPA1_ENST00000392438.3_Splice_Site|OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TCTCATTTTAGATTAAGGATA	0.303													6	48					0	0	0	0	A	193382668	G	A	193382668	5	1	435	1	0	0	0	0	0	0	1	0	10942	956	33	2	2767	2	OPA1	3	193382668	Splice_Site	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	51293213	193382668	4639762	46	85828											
HTT	3064	broad.mit.edu	37	chr4	3189497	3189497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagctctccttctctccGtatttaatctcctgtacagt	7	15	6	13	1	3	0	0	0	3	0	7	1	4	1	3	1	2	3	3	1	3	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:3189497G>A	ENST00000355072.5	+	39	5254	c.5109G>A	c.(5107-5109)ccG>ccA	p.P1703P		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1703					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCTTCTCTCCGTATTTAATCT	0.403													4	97					0	0	0	0	A	3189497	G	A	3189497	2	1	435	1	0	0	0	0	0	0	0	1	7510	1132	40	1		1	HTT	4	3189497	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		3189497	187964779	47	85829											
SH3TC1	54436	broad.mit.edu	37	chr4	8229893	8229893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgccggagtccgtgccatCgtggaccacctggtggccct	5	9	13	14	3	0	0	0	0	0	0	2	2	1	2	6	4	2	0	6	4	0	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:8229893C>T	ENST00000539824.1	+	12	2618	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	SH3TC1_ENST00000245105.3_Silent_p.I824I			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	824							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCGTGCCATCGTGGACCACC	0.662													3	22					0	0	0	0	T	8229893	C	T	8229893	2	4	435	1	0	0	0	0	0	0	0	1	14349	874	31	1		1	SH3TC1	4	8229893	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	5040396	8229893	182924383	48	85830											
PDGFRA	5156	broad.mit.edu	37	chr4	55138567	55138567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcctcttgcagttccttCatccattctggacttggtcg	4	16	8	13	1	4	0	1	0	3	0	7	1	6	1	3	2	2	2	3	2	0	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:55138567C>T	ENST00000257290.5	+	9	1575	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	415	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCAGTTCCTTCATCCATTCTG	0.483			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	122					0	0	0	0	T	55138567	C	T	55138567	3	4	435	1	0	0	0	0	1	0	0	0	11732	838	29	2	1274	2	PDGFRA	4	55138567	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	46908674	55138567	136015709	49	85831											
RASGEF1B	153020	broad.mit.edu	37	chr4	82366922	82366922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatttctgtagcaaccaagTagctgaggcgattaaaccat	14	10	9	8	1	1	2	0	1	1	1	1	3	1	2	2	1	4	4	2	1	6	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:82366922T>C	ENST00000509081.1	-	7	1018	c.797A>G	c.(796-798)tAc>tGc	p.Y266C	RASGEF1B_ENST00000264400.2_Missense_Mutation_p.Y267C|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y225C			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	267	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AGCAACCAAGTAGCTGAGGCG	0.368													10	44					0	0	0	0	C	82366922	T	C	82366922	3	2	435	1	0	0	0	0	1	0	0	0	13152	1638	57	5	653	5	RASGEF1B	4	82366922	Missense_Mutation	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	27228355	82366922	108787354	50	85832											
UGT8	7368	broad.mit.edu	37	chr4	115544355	115544355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcgaactgtttgacataCtggatcactatactaagaac	15	11	6	9	1	1	2	1	1	0	1	2	4	1	3	0	1	4	1	0	1	7	5	rs137983750		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:115544355C>T	ENST00000310836.6	+	2	841	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	UGT8_ENST00000394511.3_Silent_p.L107L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	107					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GTTTGACATACTGGATCACTA	0.458													4	112					0	0	0	0	T	115544355	C	T	115544355	2	4	435	1	0	0	0	0	0	0	0	1	17061	564	20	4		4	UGT8	4	115544355	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	33177433	115544355	75609921	51	85833											
TAS2R1	50834	broad.mit.edu	37	chr5	9630065	9630065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgccattcaccaccacaAtgatgccatttgtgaaaatc	14	10	5	12	0	1	2	1	2	0	0	2	2	1	2	4	0	2	0	4	0	4	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:9630065A>T	ENST00000382492.2	-	1	398	c.80T>A	c.(79-81)aTt>aAt	p.I27N	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	27					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						CACCACCACAATGATGCCATT	0.368													15	51					0	0	0	0	T	9630065	A	T	9630065	3	4	435	1	0	0	0	0	1	0	0	0	15656	101	4	5	823	5	TAS2R1	5	9630065	Missense_Mutation	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08		9630065	171285195	52	85834											
TRIO	7204	broad.mit.edu	37	chr5	14304622	14304622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcggtgaggtagaccttcCctcagagctgcaggacctag	8	9	13	11	1	1	3	1	1	0	2	2	4	2	4	3	3	3	3	3	3	2	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:14304622C>T	ENST00000344204.4	+	8	1445	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	TRIO_ENST00000537187.1_Missense_Mutation_p.P474L|TRIO_ENST00000509967.2_Missense_Mutation_p.P425L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	474					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTAGACCTTCCCTCAGAGCTG	0.393													24	96					0	0	0	0	T	14304622	C	T	14304622	3	4	435	1	0	0	0	0	1	0	0	0	16647	623	22	4	1451	4	TRIO	5	14304622	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	4674557	14304622	166610638	53	85835											
PDZD2	23037	broad.mit.edu	37	chr5	32088217	32088217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatccatgtatggcgatGctgaggattcttcttctgac	7	15	10	9	1	4	2	1	2	3	0	5	4	5	3	1	2	1	2	1	2	1	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:32088217G>A	ENST00000438447.1	+	20	5051	c.4663G>A	c.(4663-4665)Gct>Act	p.A1555T	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1555T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1555					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTATGGCGATGCTGAGGATTC	0.537													27	75					0	0	0	0	A	32088217	G	A	32088217	3	1	435	1	0	0	0	0	1	0	0	0	11772	1319	46	4	4737	4	PDZD2	5	32088217	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	17783595	32088217	148827043	54	85836											
ZFYVE16	9765	broad.mit.edu	37	chr5	79770487	79770487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaatacatttcaggtgttCtactttctaaaggaccagga	13	14	7	7	0	3	0	1	0	2	0	3	2	3	2	1	3	2	1	1	3	6	7			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:79770487C>G	ENST00000338008.5	+	17	4479	c.4299C>G	c.(4297-4299)ttC>ttG	p.F1433L	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F1433L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F1433L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1433					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTCAGGTGTTCTACTTTCTAA	0.333													4	60					0	0	0	0	G	79770487	C	G	79770487	3	3	435	1	0	0	0	0	1	0	0	0	17759	912	32	2	4361	2	ZFYVE16	5	79770487	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	47682270	79770487	101144773	55	85837											
FBN2	2201	broad.mit.edu	37	chr5	127873057	127873057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccctcggagcacgtcCtgctgtcctcgccggcggac	5	8	11	17	5	0	0	0	0	0	0	4	2	2	2	4	3	3	2	4	3	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:127873057C>T	ENST00000508053.1	-	7	1214	c.240G>A	c.(238-240)caG>caA	p.Q80Q	FBN2_ENST00000508989.1_Silent_p.Q80Q|FBN2_ENST00000262464.4_Silent_p.Q80Q			P35556	FBN2_HUMAN	fibrillin 2	80					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAGCACGTCCTGCTGTCCTC	0.682													6	14					0	0	0	0	T	127873057	C	T	127873057	2	4	435	1	0	0	0	0	0	0	0	1	5748	680	24	4		4	FBN2	5	127873057	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	48102570	127873057	53042203	56	85838											
HIST1H2BA	255626	broad.mit.edu	37	chr6	25727227	25727227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaaggaaggcaaaaagCgcaagaggacccgtaaggag	20	1	14	6	2	0	2	0	0	0	2	0	5	0	5	1	4	1	3	1	4	7	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:25727227C>T	ENST00000274764.2	+	1	91	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	31					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						AGGCAAAAAGCGCAAGAGGAC	0.448													19	91					0	0	0	0	T	25727227	C	T	25727227	3	4	435	1	0	0	0	0	1	0	0	0	7190	768	27	1	93	1	HIST1H2BA	6	25727227	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08		25727227	145387840	57	85839											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027344	26027344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataaatcaaaccggaaattCgcttaaccccaccacgccta	15	7	4	15	3	1	0	1	0	0	0	2	1	1	1	5	1	2	1	5	1	6	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:26027344C>T	ENST00000377364.3	-	1	136	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	46					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R46Q(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						ACCGGAAATTCGCTTAACCCC	0.572													12	85					0	0	0	0	T	26027344	C	T	26027344	3	4	435	1	0	0	0	0	1	0	0	0	7216	884	31	1	178	1	HIST1H4B	6	26027344	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	300117	26027344	145087723	58	85840											
TAPBP	6892	broad.mit.edu	37	chr6	33272235	33272235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaatggtggcgcagggccGagagccacctctgcccctcg	6	5	15	15	4	1	1	0	0	1	1	2	3	1	2	5	4	2	1	5	4	1	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:33272235G>A	ENST00000434618.2	-	5	1394	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	TAPBP_ENST00000426633.2_Missense_Mutation_p.S350L|TAPBP_ENST00000456592.2_Missense_Mutation_p.S350L|TAPBP_ENST00000489157.1_Missense_Mutation_p.S263L|TAPBP_ENST00000475304.1_Missense_Mutation_p.S368L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	350	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCGCAGGGCCGAGAGCCACCT	0.677													11	60					0	0	0	0	A	33272235	G	A	33272235	3	1	435	1	0	0	0	0	1	0	0	0	15643	1059	37	1	493	1	TAPBP	6	33272235	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	7244891	33272235	137842832	59	85841											
FGD2	221472	broad.mit.edu	37	chr6	36978761	36978761	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcaggagccagagaagAagatcgtccaggagctgctg	11	5	14	11	2	0	3	0	0	0	3	3	6	2	5	3	2	3	3	3	2	2	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:36978761A>C	ENST00000274963.8	+	3	484	c.313A>C	c.(313-315)Aag>Cag	p.K105Q		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	105	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCCAGAGAAGAAGATCGTCCA	0.602													16	72					0	0	0	0	C	36978761	A	C	36978761	3	2	435	1	0	0	0	0	1	0	0	0	5878	247	9	5	323	5	FGD2	6	36978761	Missense_Mutation	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08	3706526	36978761	134136306	60	85842											
CYP39A1	51302	broad.mit.edu	37	chr6	46620227	46620227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggaatccagcccttgatGcacgggggtctacgcaaatt	11	8	11	11	2	1	1	0	1	1	0	2	2	2	2	2	3	3	2	2	3	4	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:46620227G>A	ENST00000275016.2	-	1	296	c.93C>T	c.(91-93)tgC>tgT	p.C31C		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	31					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AGCCCTTGATGCACGGGGGTC	0.448													68	331					0	0	0	0	A	46620227	G	A	46620227	2	1	435	1	0	0	0	0	0	0	0	1	4209	1311	46	4		4	CYP39A1	6	46620227	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	9641466	46620227	124494840	61	85843											
BVES	11149	broad.mit.edu	37	chr6	105577362	105577362	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtagagagtggcccagacGatataaagggtacatcctgt	12	8	13	8	2	0	2	0	0	0	2	1	4	1	2	2	3	1	2	2	3	5	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:105577362G>T	ENST00000314641.5	-	3	459	c.243C>A	c.(241-243)atC>atA	p.I81I	BVES_ENST00000336775.5_Silent_p.I81I|BVES_ENST00000446408.2_Silent_p.I81I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	81					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGCCCAGACGATATAAAGGG	0.383													22	94					9.57634e-11	1.0635e-10	1	0	T	105577362	G	T	105577362	2	4	435	1	0	0	0	0	0	0	0	1	1584	1048	37	3		3	BVES	6	105577362	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	58957135	105577362	65537705	62	85844											
FYN	2534	broad.mit.edu	37	chr6	112029202	112029202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctccagttgtcaaggagcgGgcttcccaccaatctccttc	7	11	8	15	1	3	0	1	0	2	0	7	1	4	1	4	2	1	2	4	2	2	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:112029202G>A	ENST00000354650.3	-	6	972	c.366C>T	c.(364-366)gcC>gcT	p.A122A	FYN_ENST00000229470.5_Intron|FYN_ENST00000356013.2_Silent_p.A122A|FYN_ENST00000538466.1_Silent_p.A122A|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Silent_p.A122A|FYN_ENST00000368682.3_Silent_p.A122A|FYN_ENST00000229471.4_Silent_p.A122A|FYN_ENST00000368678.4_Silent_p.A122A	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	122	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCAAGGAGCGGGCTTCCCACC	0.418													13	49					0	0	0	0	A	112029202	G	A	112029202	2	1	435	1	0	0	0	0	0	0	0	1	6174	1219	43	4		4	FYN	6	112029202	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	6451840	112029202	59085865	63	85845											
BCLAF1	9774	broad.mit.edu	37	chr6	136599260	136599261	+	Frame_Shift_Del	DEL	AG	AG	-																															tgagaaggagtattttttgcAgagtgaactgtactgagcat																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:136599260_136599261delAG	ENST00000531224.1	-	4	1010_1011	c.758_759delCT	c.(757-759)tfs	p.S253fs	BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.S253fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.S253fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	253					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TATTTTTTGCAGAGTGAACTGT	0.446													15	116	---	---	---	---					-	136599261	AG	-	136599260	7	5	435	1	0	1	0	1	0	0	0	0	1387	175	7	0	2043	0	BCLAF1	6	136599260	Frame_Shift_Del	DEL	AG	TCGA-IQ-A61H-01A-11D-A30E-08	24570058	136599260	34515807	64	85846											
SYNJ2	8871	broad.mit.edu	37	chr6	158516916	158516916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtacccccgaggaggaaGaagtcagcccccgcagcctt	11	4	12	14	2	1	1	1	0	0	1	1	4	1	3	5	3	3	2	5	3	4	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:158516916G>A	ENST00000355585.4	+	27	4086	c.4011G>A	c.(4009-4011)aaG>aaA	p.K1337K	SYNJ2_ENST00000367122.2_Silent_p.K1292K|SYNJ2_ENST00000367112.1_Silent_p.K422K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1337							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGAGGAGGAAGAAGTCAGCCC	0.647													22	89					0	0	0	0	A	158516916	G	A	158516916	2	1	435	1	0	0	0	0	0	0	0	1	15544	933	33	2		2	SYNJ2	6	158516916	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	21917656	158516916	12598151	65	85847											
QKI	9444	broad.mit.edu	37	chr6	163984721	163984721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccagctacatcaatccttGagtatcctattgaacctagt	12	12	5	12	0	1	2	1	2	0	0	3	2	3	2	4	0	3	2	4	0	6	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:163984721G>C	ENST00000361752.3	+	6	1455	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	QKI_ENST00000453779.2_Missense_Mutation_p.E302Q|QKI_ENST00000424802.3_Missense_Mutation_p.E294Q|QKI_ENST00000275262.7_Missense_Mutation_p.E302Q|QKI_ENST00000392127.2_Missense_Mutation_p.E302Q|QKI_ENST00000361195.2_Missense_Mutation_p.E294Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	302					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ATCAATCCTTGAGTATCCTAT	0.423													28	83					0	0	0	0	C	163984721	G	C	163984721	3	2	435	1	0	0	0	0	1	0	0	0	12955	1291	45	2	926	2	QKI	6	163984721	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	5467805	163984721	7130346	66	85848											
PDE1C	5137	broad.mit.edu	37	chr7	31855619	31855619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttgtttgcccgtgttcCattgacttgattcttagttt	5	21	7	8	1	1	2	0	2	1	0	2	2	2	2	2	0	1	3	2	0	1	9			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:31855619C>G	ENST00000396184.3	-	16	1936	c.1732G>C	c.(1732-1734)Gga>Cga	p.G578R	PDE1C_ENST00000321453.7_Missense_Mutation_p.G578R|PDE1C_ENST00000396182.2_Missense_Mutation_p.G578R|PDE1C_ENST00000396191.1_Missense_Mutation_p.G578R|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396193.1_Missense_Mutation_p.G638R	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	578					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCCCGTGTTCCATTGACTTGA	0.473													20	228					0	0	0	0	G	31855619	C	G	31855619	3	3	435	1	0	0	0	0	1	0	0	0	11706	603	21	4	184	4	PDE1C	7	31855619	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08		31855619	127283044	67	85849											
AMPH	273	broad.mit.edu	37	chr7	38424475	38424475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctttgtaggtggcaaggtCtctgtactgaagccagtctg	7	12	13	9	0	2	1	0	1	2	0	3	1	2	1	2	3	2	3	2	3	4	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:38424475C>G	ENST00000356264.2	-	21	2247	c.2032G>C	c.(2032-2034)Gac>Cac	p.D678H	AMPH_ENST00000325590.5_Missense_Mutation_p.D636H|AMPH_ENST00000428293.2_Missense_Mutation_p.D636H	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	678	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.D678H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGGCAAGGTCTCTGTACTGA	0.478													22	106					0	0	0	0	G	38424475	C	G	38424475	3	3	435	1	0	0	0	0	1	0	0	0	588	913	32	2	59	2	AMPH	7	38424475	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	6568856	38424475	120714188	68	85850											
INHBA	3624	broad.mit.edu	37	chr7	41729352	41729352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgggtctcagcttggtggGcacacagcacgatttgaggt	8	10	14	9	1	1	1	1	1	1	0	2	2	1	1	0	4	2	3	0	4	0	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:41729352G>A	ENST00000242208.4	-	3	1423	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.P393S|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	393					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCTTGGTGGGCACACAGCAC	0.522										TSP Lung(11;0.080)			4	103					0	0	0	0	A	41729352	G	A	41729352	3	1	435	1	0	0	0	0	1	0	0	0	7794	1203	42	4	107	4	INHBA	7	41729352	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	3304877	41729352	117409311	69	85851											
GRB10	2887	broad.mit.edu	37	chr7	50742257	50742257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgctggccattctgcaGgaggggcaccgtgtctgact	6	9	15	11	1	2	1	0	1	2	0	2	2	2	2	2	5	2	4	2	5	0	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:50742257G>A	ENST00000403097.1	-	5	1000	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	GRB10_ENST00000402578.1_Silent_p.L22L|GRB10_ENST00000398810.2_Silent_p.L22L|GRB10_ENST00000439599.1_Silent_p.L74L|GRB10_ENST00000406641.1_Silent_p.L22L|GRB10_ENST00000407526.1_Silent_p.L22L|GRB10_ENST00000335866.3_Silent_p.L22L|GRB10_ENST00000401949.1_Silent_p.L80L|GRB10_ENST00000398812.2_Silent_p.L80L|GRB10_ENST00000402497.1_Silent_p.L22L|GRB10_ENST00000357271.5_Silent_p.L80L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	80					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CCATTCTGCAGGAGGGGCACC	0.637									Russell-Silver syndrome				17	61					0	0	0	0	A	50742257	G	A	50742257	2	1	435	1	0	0	0	0	0	0	0	1	6806	991	35	4		4	GRB10	7	50742257	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	9012905	50742257	108396406	70	85852											
PSPH	5723	broad.mit.edu	37	chr7	56082733	56082733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacagcaggaggacaggcttCcatatctgtggcaccatctc	10	9	10	12	0	2	0	0	0	2	0	4	2	3	2	2	4	2	3	2	4	2	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:56082733C>T	ENST00000395471.3	-	7	1358	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	PSPH_ENST00000275605.3_Missense_Mutation_p.E185K|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	185					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGACAGGCTTCCATATCTGTG	0.289													16	72					0	0	0	0	T	56082733	C	T	56082733	3	4	435	1	0	0	0	0	1	0	0	0	12796	864	30	2	132	2	PSPH	7	56082733	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	5340476	56082733	103055930	71	85853											
POM121	9883	broad.mit.edu	37	chr7	72413745	72413745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtgcagccaccagctcCggctttggagccaccaccca	7	7	10	17	2	0	0	0	0	0	0	2	1	1	1	6	3	4	3	6	3	0	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:72413745C>T	ENST00000395270.1	+	14	3459	c.2418C>T	c.(2416-2418)tcC>tcT	p.S806S	POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S|POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000358357.3_Silent_p.S806S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1071	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACCAGCTCCGGCTTTGGAG	0.657													8	90					0	0	0	0	T	72413745	C	T	72413745	2	4	435	1	0	0	0	0	0	0	0	1	12311	639	23	1		1	POM121	7	72413745	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	16331012	72413745	86724918	72	85854											
GRM3	2913	broad.mit.edu	37	chr7	86493637	86493637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacggtgtgcaatgggcGggaagtcctcgactccacca	9	6	13	13	3	0	0	0	0	0	0	3	2	2	1	4	3	2	1	4	3	3	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:86493637G>A	ENST00000361669.2	+	6	3705	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q	GRM3_ENST00000536043.1_Missense_Mutation_p.R741Q|GRM3_ENST00000394720.2_Silent_p.A511A|GRM3_ENST00000546348.1_Missense_Mutation_p.R461Q|GRM3_ENST00000439827.1_Silent_p.A513A	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	869					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCAATGGGCGGGAAGTCCTC	0.473													31	87					0	0	0	0	A	86493637	G	A	86493637	3	1	435	1	0	0	0	0	1	0	0	0	6848	1116	39	1	2624	1	GRM3	7	86493637	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	14079892	86493637	72645026	73	85855											
STRA8	346673	broad.mit.edu	37	chr7	134927560	134927560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgaataaggcaaagagtCatattccagaactggagcaa	16	9	9	7	0	2	3	1	1	1	2	3	4	3	4	1	2	2	2	1	2	6	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:134927560C>T	ENST00000275764.3	+	3	286	c.286C>T	c.(286-288)Cat>Tat	p.H96Y		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	96					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.H96N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						GGCAAAGAGTCATATTCCAGA	0.483													24	85					0	0	0	0	T	134927560	C	T	134927560	3	4	435	1	0	0	0	0	1	0	0	0	15413	826	29	2	296	2	STRA8	7	134927560	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	48433923	134927560	24211103	74	85856											
TAS2R60	338398	broad.mit.edu	37	chr7	143141293	143141294	+	Frame_Shift_Del	DEL	CT	CT	-																															taaaggctctgctggctctcCtctcttttgccatgctcttc																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:143141293_143141294delCT	ENST00000332690.1	+	1	748_749	c.748_749delCT	c.(748-750)cfs	p.L250fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	250					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCTGGCTCTCCTCTCTTTTGCC	0.495													18	101	---	---	---	---					-	143141294	CT	-	143141293	7	5	435	1	0	1	0	1	0	0	0	0	15676	681	24	0	750	0	TAS2R60	7	143141293	Frame_Shift_Del	DEL	CT	TCGA-IQ-A61H-01A-11D-A30E-08	8213733	143141293	15997370	75	85857											
ADAM32	203102	broad.mit.edu	37	chr8	39114738	39114738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagcatctgggaagactGaaaacacctggcttctaggt	14	8	11	8	0	2	3	0	1	2	2	2	4	2	4	1	3	2	2	1	3	5	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:39114738G>A	ENST00000379907.4	+	19	2165	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	ADAM32_ENST00000437682.2_Missense_Mutation_p.E581K|ADAM32_ENST00000519315.1_Missense_Mutation_p.E574K	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	680					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGGGAAGACTGAAAACACCTG	0.343													5	51					0	0	0	0	A	39114738	G	A	39114738	3	1	435	1	0	0	0	0	1	0	0	0	249	1291	45	2	2112	2	ADAM32	8	39114738	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		39114738	107249284	76	85858											
CHD7	55636	broad.mit.edu	37	chr8	61654293	61654293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaacggactcgcgtctcCgcactcgcagtatcacaccc	8	7	10	16	5	2	0	1	0	1	0	5	2	2	2	2	2	1	3	2	2	2	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:61654293C>T	ENST00000423902.2	+	2	781	c.302C>T	c.(301-303)cCg>cTg	p.P101L	CHD7_ENST00000524602.1_Missense_Mutation_p.P101L|CHD7_ENST00000525508.1_Missense_Mutation_p.P101L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	101					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTCGCGTCTCCGCACTCGCAG	0.532													11	35					0	0	0	0	T	61654293	C	T	61654293	3	4	435	1	0	0	0	0	1	0	0	0	3359	652	23	1	304	1	CHD7	8	61654293	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	22539555	61654293	84709729	77	85859											
ZFHX4	79776	broad.mit.edu	37	chr8	77617976	77617976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagtgttgctagtaaCtatggcatcagtggcaagga	11	10	14	6	0	1	0	1	0	0	0	1	1	1	1	0	4	2	6	0	4	4	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:77617976C>G	ENST00000521891.2	+	2	2101	c.1653C>G	c.(1651-1653)aaC>aaG	p.N551K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.N551K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N551K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N551K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	551						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCTAGTAACTATGGCATCA	0.502										HNSCC(33;0.089)			27	33					0	0	0	0	G	77617976	C	G	77617976	3	3	435	1	0	0	0	0	1	0	0	0	17730	564	20	4	1655	4	ZFHX4	8	77617976	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	15963683	77617976	68746046	78	85860											
VPS13B	157680	broad.mit.edu	37	chr8	100866145	100866145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctcggttatacgtggaaGacacatttgtatactacatc	11	13	8	9	2	0	1	0	0	0	1	2	2	0	2	0	2	4	3	0	2	6	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:100866145G>C	ENST00000358544.2	+	56	10714	c.10603G>C	c.(10603-10605)Gac>Cac	p.D3535H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D3510H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3535					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATACGTGGAAGACACATTTGT	0.418													37	388					0	0	0	0	C	100866145	G	C	100866145	3	2	435	1	0	0	0	0	1	0	0	0	17286	942	33	2	11015	2	VPS13B	8	100866145	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	23248169	100866145	45497877	79	85861											
KCNQ3	3786	broad.mit.edu	37	chr8	133153535	133153535	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcctttagtattgctaccacGaggattagaaaggcgaaccc	12	10	9	10	2	0	1	0	0	0	1	1	4	1	2	3	2	3	2	3	2	6	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:133153535G>C	ENST00000388996.4	-	10	1726	c.1306C>G	c.(1306-1308)Cgt>Ggt	p.R436G	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R436G|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R316G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	436					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTGCTACCACGAGGATTAGAA	0.398													34	70					0	0	0	0	C	133153535	G	C	133153535	3	2	435	1	0	0	0	0	1	0	0	0	8137	1058	37	3	1336	3	KCNQ3	8	133153535	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	32287390	133153535	13210487	80	85862											
MRPL50	54534	broad.mit.edu	37	chr9	104152981	104152981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttgccaattactaggaaGagatgaaccaaaaacttctt	15	11	7	8	0	2	2	0	1	2	1	2	4	2	3	2	1	4	0	2	1	7	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:104152981G>C	ENST00000374865.4	-	2	265	c.244C>G	c.(244-246)Ctt>Gtt	p.L82V	MRPL50_ENST00000539624.1_Missense_Mutation_p.L82V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	82						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				TTACTAGGAAGAGATGAACCA	0.433													17	86					0	0	0	0	C	104152981	G	C	104152981	3	2	435	1	0	0	0	0	1	0	0	0	9884	942	33	2	236	2	MRPL50	9	104152981	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		104152981	37060450	81	85863											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870815	129870815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgacgcagatggcacccgTgacccgctgctggggcacaa	8	6	14	13	3	0	3	0	2	0	1	0	3	0	3	2	3	1	6	2	3	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:129870815T>C	ENST00000373425.3	-	2	813	c.196A>G	c.(196-198)Acg>Gcg	p.T66A	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	66					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						ATGGCACCCGTGACCCGCTGC	0.572													15	54					0	0	0	0	C	129870815	T	C	129870815	3	2	435	1	0	0	0	0	1	0	0	0	614	1696	59	5	1301	5	ANGPTL2	9	129870815	Missense_Mutation	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	25717834	129870815	11342616	82	85864											
ENTPD2	954	broad.mit.edu	37	chr9	139944405	139944405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagccccatcgaagtccGcaaaaagtccacagtgtaga	13	5	11	12	2	0	1	0	0	0	1	3	2	2	1	4	1	1	3	4	1	4	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:139944405G>A	ENST00000355097.2	-	7	1113	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	356						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCGAAGTCCGCAAAAAGTCC	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	110					0	0	0	0	A	139944405	G	A	139944405	3	1	435	1	0	0	0	0	1	0	0	0	5177	1086	38	1	433	1	ENTPD2	9	139944405	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	10073590	139944405	1269026	83	85865											
SLC34A3	142680	broad.mit.edu	37	chr9	140128975	140128975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcacggcggccgtcgtgCccctcatgggtgagcaggca	5	8	14	14	4	3	1	2	1	1	0	4	1	3	1	3	4	2	2	3	4	0	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:140128975C>T	ENST00000538474.1	+	11	1425	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.P401S	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	401					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCCGTCGTGCCCCTCATGGG	0.716													18	31					0	0	0	0	T	140128975	C	T	140128975	3	4	435	1	0	0	0	0	1	0	0	0	14657	739	26	4	1239	4	SLC34A3	9	140128975	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	184570	140128975	1084456	84	85866											
APBB1IP	54518	broad.mit.edu	37	chr10	26802572	26802572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaggagaaatatgctGtatttaaaaacccccaggta	18	8	9	6	0	0	3	0	0	0	3	0	4	0	3	2	2	2	3	2	2	8	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr10:26802572G>T	ENST00000376236.4	+	8	1251	c.796G>T	c.(796-798)Gta>Tta	p.V266L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	266					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GAAATATGCTGTATTTAAAAA	0.333													13	88					5.50884e-06	5.76992e-06	1	0	T	26802572	G	T	26802572	3	4	435	1	0	0	0	0	1	0	0	0	761	1377	48	4	818	4	APBB1IP	10	26802572	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		26802572	108732175	85	85867											
C10orf11	83938	broad.mit.edu	37	chr10	77807015	77807015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacgtggcctgtcccaacGagctggtcagcttggaaaag	10	7	13	11	2	1	0	1	0	0	0	2	2	2	1	2	3	4	3	2	3	4	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr10:77807015G>A	ENST00000372499.1	+	3	483	c.268G>A	c.(268-270)Gag>Aag	p.E90K	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	90										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CTGTCCCAACGAGCTGGTCAG	0.507													4	61					0	0	0	0	A	77807015	G	A	77807015	3	1	435	1	0	0	0	0	1	0	0	0	1592	1059	37	1	278	1	C10orf11	10	77807015	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	51004443	77807015	57727732	86	85868											
SLC25A22	79751	broad.mit.edu	37	chr11	792392	792392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcgacttctcctcggaCgccgggcggcccagctggtt	6	7	14	14	5	1	0	0	0	1	0	3	2	1	1	3	5	1	2	3	5	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:792392C>T	ENST00000320230.5	-	8	1135	c.654G>A	c.(652-654)gcG>gcA	p.A218A	SLC25A22_ENST00000531214.1_Silent_p.A218A	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	218						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TCTCCTCGGACGCCGGGCGGC	0.657													46	189					0	0	0	0	T	792392	C	T	792392	2	4	435	1	0	0	0	0	0	0	0	1	14573	523	19	1		1	SLC25A22	11	792392	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08		792392	134214124	87	85869											
TSPAN4	7106	broad.mit.edu	37	chr11	864504	864504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcttcttcgcctacaCggacaaggtacggctgcctt	7	11	8	15	3	2	0	0	0	2	0	4	1	3	1	3	3	3	2	3	3	3	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:864504C>T	ENST00000397404.1	+	5	582	c.323C>T	c.(322-324)aCg>aTg	p.T108M	TSPAN4_ENST00000397396.1_Missense_Mutation_p.T44M|TSPAN4_ENST00000397406.1_Missense_Mutation_p.T108M|TSPAN4_ENST00000397411.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000397408.1_Missense_Mutation_p.T108M|TSPAN4_ENST00000525201.1_Missense_Mutation_p.T44M|TSPAN4_ENST00000346501.4_Missense_Mutation_p.T108M|TSPAN4_ENST00000397397.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000409531.1_Missense_Mutation_p.T127M|TSPAN4_ENST00000409543.2_Missense_Mutation_p.T108M	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	108					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCGCCTACACGGACAAGGTA	0.657													18	82					0	0	0	0	T	864504	C	T	864504	3	4	435	1	0	0	0	0	1	0	0	0	16744	536	19	1	333	1	TSPAN4	11	864504	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	72112	864504	134142012	88	85870											
TRIM3	10612	broad.mit.edu	37	chr11	6472280	6472280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcccatgaggcggccagctCcaatcttggtctggaggaag	8	7	15	11	1	2	1	0	1	2	0	3	3	3	3	3	6	1	1	3	6	2	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:6472280C>T	ENST00000525074.1	-	9	2106	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	TRIM3_ENST00000537602.1_Missense_Mutation_p.G493E|TRIM3_ENST00000536344.1_Missense_Mutation_p.G452E|TRIM3_ENST00000345851.3_Missense_Mutation_p.G571E|TRIM3_ENST00000359518.3_Missense_Mutation_p.G571E	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	571					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGGCCAGCTCCAATCTTGGT	0.527													11	49					0	0	0	0	T	6472280	C	T	6472280	3	4	435	1	0	0	0	0	1	0	0	0	16599	855	30	2	538	2	TRIM3	11	6472280	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	5607776	6472280	128534236	89	85871											
OLFML1	283298	broad.mit.edu	37	chr11	7530749	7530749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaggtgtacttattaattgGatccagaaacaacactgttt	15	13	7	6	0	0	1	0	0	0	1	1	2	1	2	1	2	3	2	1	2	6	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:7530749G>A	ENST00000329293.3	+	3	933	c.539G>A	c.(538-540)gGa>gAa	p.G180E	OLFML1_ENST00000530135.1_Missense_Mutation_p.G180E|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	180	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTATTAATTGGATCCAGAAAC	0.423													28	95					0	0	0	0	A	7530749	G	A	7530749	3	1	435	1	0	0	0	0	1	0	0	0	10927	1174	41	2	549	2	OLFML1	11	7530749	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	1058469	7530749	127475767	90	85872											
PRMT3	10196	broad.mit.edu	37	chr11	20448356	20448356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacactaattaaaggaaagaTtgaagaagttcatcttcctg	16	12	7	6	0	2	3	1	1	1	2	3	4	3	4	1	1	1	1	1	1	7	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:20448356T>C	ENST00000331079.6	+	10	1155	c.938T>C	c.(937-939)aTt>aCt	p.I313T	PRMT3_ENST00000437750.2_Missense_Mutation_p.I251T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	313							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AAAGGAAAGATTGAAGAAGTT	0.274													6	15					0	0	0	0	C	20448356	T	C	20448356	3	2	435	1	0	0	0	0	1	0	0	0	12618	1493	52	5	976	5	PRMT3	11	20448356	Missense_Mutation	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	12917607	20448356	114558160	91	85873											
LRRC4C	57689	broad.mit.edu	37	chr11	40136785	40136785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctccacaatcaccggaGcatagcatgtgaagtaattc	12	8	11	10	1	1	1	1	1	0	0	3	2	2	2	2	3	2	4	2	3	4	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:40136785G>A	ENST00000278198.2	-	2	3021	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V	LRRC4C_ENST00000530763.1_Missense_Mutation_p.A353V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A353V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A353V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	353	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATCACCGGAGCATAGCATGT	0.542													18	75					0	0	0	0	A	40136785	G	A	40136785	3	1	435	1	0	0	0	0	1	0	0	0	9072	971	34	4	868	4	LRRC4C	11	40136785	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	19688429	40136785	94869731	92	85874											
OR5I1	10798	broad.mit.edu	37	chr11	55703134	55703134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtagatcgtcactgaaGtcaggtgagaggcgcatgta	10	10	14	7	2	2	3	2	2	0	2	3	4	2	3	0	3	0	3	0	3	3	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:55703134G>T	ENST00000301532.3	-	1	742	c.743C>A	c.(742-744)aCt>aAt	p.T248N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGTCACTGAAGTCAGGTGAGA	0.433													4	33					0.00909568	0.00922085	1	0	T	55703134	G	T	55703134	3	4	435	1	0	0	0	0	1	0	0	0	11235	1029	36	4	204	4	OR5I1	11	55703134	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	15566349	55703134	79303382	93	85875											
OR10AG1	282770	broad.mit.edu	37	chr11	55735497	55735497	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttggcatgtttccccaAttactacaggaattgtgatg	12	14	8	7	0	0	1	0	1	0	0	1	2	1	2	2	2	2	2	2	2	5	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:55735497A>C	ENST00000312345.2	-	1	493	c.443T>G	c.(442-444)aTt>aGt	p.I148S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTTTCCCCAATTACTACAGG	0.413													16	70					0	0	0	0	C	55735497	A	C	55735497	3	2	435	1	0	0	0	0	1	0	0	0	10968	101	4	5	465	5	OR10AG1	11	55735497	Missense_Mutation	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08	32363	55735497	79271019	94	85876											
KCNK4	50801	broad.mit.edu	37	chr11	64067045	64067045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggattatcccagcgagaaCctggccttcatcgacgagtc	9	9	10	13	3	1	1	1	0	0	1	4	5	2	2	3	2	2	0	3	2	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:64067045C>T	ENST00000538767.1	+	6	934	c.682C>T	c.(682-684)Cct>Tct	p.P228S	KCNK4_ENST00000422670.2_Silent_p.N343N|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539216.1_Silent_p.N343N|KCNK4_ENST00000394525.2_Silent_p.N343N			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	323						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CCAGCGAGAACCTGGCCTTCA	0.731													26	93					0	0	0	0	T	64067045	C	T	64067045	3	4	435	1	0	0	0	0	1	0	0	0	8121	506	18	4	1051	4	KCNK4	11	64067045	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	8331548	64067045	70939471	95	85877											
EHBP1L1	254102	broad.mit.edu	37	chr11	65347886	65347886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttggatgactttgctgaGagtgatgaagatgaggctca	12	11	13	5	0	1	6	1	5	0	2	1	8	1	7	0	2	2	2	0	2	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65347886G>A	ENST00000309295.4	+	6	835	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	190										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTTTGCTGAGAGTGATGAAG	0.592													20	77					0	0	0	0	A	65347886	G	A	65347886	2	1	435	1	0	0	0	0	0	0	0	1	5012	933	33	2		2	EHBP1L1	11	65347886	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	1280841	65347886	69658630	96	85878			1	132		8	8	3040	G		8.23684e-17
EHBP1L1	254102	broad.mit.edu	37	chr11	65349278	65349278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggcagagactcaaggctGaagagatggacactgaggac	15	4	15	7	0	1	4	1	2	0	2	1	9	1	6	0	4	0	2	0	4	3	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65349278G>A	ENST00000309295.4	+	9	1400	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	379										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTCAAGGCTGAAGAGATGGA	0.572													11	29					0	0	0	0	A	65349278	G	A	65349278	3	1	435	1	0	0	0	0	1	0	0	0	5012	1291	45	2	1169	2	EHBP1L1	11	65349278	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	1392	65349278	69657238	97	85879			1	132		8	8	3040	G		8.23684e-17
EHBP1L1	254102	broad.mit.edu	37	chr11	65349394	65349394	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagctggggaggctgaagaGagttcagcagtttgtcaagt	11	9	16	5	0	2	3	2	1	0	2	2	5	2	4	0	3	2	5	0	3	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65349394G>C	ENST00000309295.4	+	9	1516	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	417										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGCTGAAGAGAGTTCAGCAG	0.567													9	43					0	0	0	0	C	65349394	G	C	65349394	3	2	435	1	0	0	0	0	1	0	0	0	5012	933	33	2	1285	2	EHBP1L1	11	65349394	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	116	65349394	69657122	98	85880			1	132		8	8	3040	G		8.23684e-17
EHBP1L1	254102	broad.mit.edu	37	chr11	65349860	65349860	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggggacctggaaacaGagactgaggtggtagggttg	10	8	18	5	0	1	2	1	1	0	1	1	5	1	4	1	6	1	3	1	6	2	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65349860G>T	ENST00000309295.4	+	9	1982	c.1717G>T	c.(1717-1719)Gag>Tag	p.E573*		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	573	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTGGAAACAGAGACTGAGGT	0.582													12	41					5.50884e-06	5.76992e-06	1	0	T	65349860	G	T	65349860	4	4	435	1	0	0	0	0	0	1	0	0	5012	943	33	2	1751	2	EHBP1L1	11	65349860	Nonsense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	466	65349860	69656656	99	85881			1	132		8	8	3040	G		8.23684e-17
EHBP1L1	254102	broad.mit.edu	37	chr11	65350465	65350465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaggtgcgatattGgggacccaagagatagcatc	13	6	14	8	1	0	2	0	0	0	2	1	5	0	3	1	3	3	3	1	3	4	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65350465G>A	ENST00000309295.4	+	9	2587	c.2322G>A	c.(2320-2322)ttG>ttA	p.L774L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	774	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTGCGATATTGGGGACCCAAG	0.527													10	44					0	0	0	0	A	65350465	G	A	65350465	2	1	435	1	0	0	0	0	0	0	0	1	5012	1339	47	4		4	EHBP1L1	11	65350465	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	605	65350465	69656051	100	85882			1	132		8	8	3040	G		8.23684e-17
EHBP1L1	254102	broad.mit.edu	37	chr11	65350558	65350558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggttgggggttcagaGgttccagagatagcgactgg	11	8	17	5	1	1	3	1	0	0	3	2	5	2	3	1	5	1	3	1	5	2	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65350558G>T	ENST00000309295.4	+	9	2680	c.2415G>T	c.(2413-2415)gaG>gaT	p.E805D		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	805	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGTTCAGAGGTTCCAGAGA	0.522													14	49					4.3838e-07	4.72595e-07	1	0	T	65350558	G	T	65350558	3	4	435	1	0	0	0	0	1	0	0	0	5012	991	35	4	2449	4	EHBP1L1	11	65350558	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	93	65350558	69655958	101	85883			1	132		8	8	3040	G		8.23684e-17
EHBP1L1	254102	broad.mit.edu	37	chr11	65350805	65350805	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagacttcgggggtccagGaagcagagactagagttggg	10	7	16	8	1	1	3	1	0	0	3	3	5	2	4	1	4	1	2	1	4	2	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65350805G>T	ENST00000309295.4	+	9	2927	c.2662G>T	c.(2662-2664)Gaa>Taa	p.E888*		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	888	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGGTCCAGGAAGCAGAGAC	0.517													7	51					0.0477658	0.048202	1	0	T	65350805	G	T	65350805	4	4	435	1	0	0	0	0	0	1	0	0	5012	1175	41	2	2696	2	EHBP1L1	11	65350805	Nonsense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	247	65350805	69655711	102	85884			1	132		8	8	3040	G		8.23684e-17
EHBP1L1	254102	broad.mit.edu	37	chr11	65350925	65350925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcaggagtacaagggtcaGagactcaagttctgagagtc	12	10	12	7	0	4	2	3	1	1	2	5	5	4	3	0	2	1	2	0	2	3	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65350925G>A	ENST00000309295.4	+	9	3047	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	928										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACAAGGGTCAGAGACTCAAGT	0.537													11	28					0	0	0	0	A	65350925	G	A	65350925	3	1	435	1	0	0	0	0	1	0	0	0	5012	943	33	2	2816	2	EHBP1L1	11	65350925	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	120	65350925	69655591	103	85885			1	132		8	8	3040	G		8.23684e-17
PDE2A	5138	broad.mit.edu	37	chr11	72296443	72296443	+	Missense_Mutation	SNP	C	C	T																															gttgctgaggtttctggcctCcgtgatgatctcctggagca																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:72296443C>T	ENST00000334456.5	-	16	1503	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	PDE2A_ENST00000376450.3_Missense_Mutation_p.E164K|PDE2A_ENST00000540345.1_Missense_Mutation_p.E411K|PDE2A_ENST00000444035.2_Missense_Mutation_p.E411K|PDE2A_ENST00000544570.1_Missense_Mutation_p.E413K|PDE2A_ENST00000418754.2_Missense_Mutation_p.E305K|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	420	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTTCTGGCCTCCGTGATGATC	0.607											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	84					0	0	0	0	T	72296443	C	T	72296443	3	4	435	1	0	0	0	0	1	0	0	0	11707	864	30	2	1631	2	PDE2A	11	72296443	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	6945518	72296443	62710073	104	85886	1076	2									
PDE2A	5138	broad.mit.edu	37	chr11	72296444	72296444	+	Silent	SNP	C	C	T																															ttgctgaggtttctggcctcCgtgatgatctcctggagcag																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:72296444C>T	ENST00000334456.5	-	16	1502	c.1257G>A	c.(1255-1257)acG>acA	p.T419T	PDE2A_ENST00000376450.3_Silent_p.T163T|PDE2A_ENST00000540345.1_Silent_p.T410T|PDE2A_ENST00000444035.2_Silent_p.T410T|PDE2A_ENST00000544570.1_Silent_p.T412T|PDE2A_ENST00000418754.2_Silent_p.T304T|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	419	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTCTGGCCTCCGTGATGATCT	0.602											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	84					0	0	0	0	T	72296444	C	T	72296444	2	4	435	1	0	0	0	0	0	0	0	1	11707	639	23	1		1	PDE2A	11	72296444	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	1	72296444	62710072	105	85887	1076	2									
DYNC2H1	79659	broad.mit.edu	37	chr11	103070182	103070182	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggatatgaactgaagCagttcaaaaatgatctcaaa	18	8	8	7	0	2	4	2	3	1	1	3	5	2	5	1	1	2	2	1	1	6	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:103070182C>T	ENST00000375735.2	+	49	8209	c.8065C>T	c.(8065-8067)Cag>Tag	p.Q2689*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q2689*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2689	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAACTGAAGCAGTTCAAAAA	0.393													3	15					0	0	0	0	T	103070182	C	T	103070182	4	4	435	1	0	0	0	0	0	1	0	0	4882	711	25	4	8259	4	DYNC2H1	11	103070182	Nonsense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	30773738	103070182	31936334	106	85888											
KCNA6	3742	broad.mit.edu	37	chr12	4920199	4920199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtggaggaggcggccagaAtgggcagcaggccatgtccc	9	4	17	11	1	0	1	0	0	0	1	1	3	1	3	3	6	1	2	3	6	1	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:4920199A>G	ENST00000433855.1	+	1	1858	c.992A>G	c.(991-993)aAt>aGt	p.N331S	KCNA6_ENST00000280684.3_Missense_Mutation_p.N331S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	331						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGCGGCCAGAATGGGCAGCAG	0.617										HNSCC(72;0.22)			15	71					0	0	0	0	G	4920199	A	G	4920199	3	3	435	1	0	0	0	0	1	0	0	0	8060	101	4	5	994	5	KCNA6	12	4920199	Missense_Mutation	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08		4920199	128931696	107	85889											
C1RL	51279	broad.mit.edu	37	chr12	7254578	7254578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgcggaaggtcagccGcaaactcctccctgaggata	9	8	12	12	2	1	1	1	1	0	0	3	3	3	3	3	3	3	1	3	3	3	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:7254578G>A	ENST00000266542.4	-	3	498	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Missense_Mutation_p.R136W|C1RL_ENST00000545337.1_Missense_Mutation_p.R136W	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	136	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGGTCAGCCGCAAACTCCTC	0.607													6	216					0	0	0	0	A	7254578	G	A	7254578	3	1	435	1	0	0	0	0	1	0	0	0	1992	1086	38	1	1073	1	C1RL	12	7254578	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	2334379	7254578	126597317	108	85890											
KLRC3	3823	broad.mit.edu	37	chr12	10572189	10572189	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaattgttctgctccAggactgtaatagaaaaatta	15	11	10	5	0	1	2	0	0	1	2	2	4	2	4	1	2	1	3	1	2	7	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:10572189A>C	ENST00000381904.2	-	3	289	c.290T>G	c.(289-291)cTg>cGg	p.L97R	KLRC3_ENST00000396439.2_Intron|KLRC3_ENST00000381903.2_Intron|NKG2-E_ENST00000539033.1_Intron					killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GTTCTGCTCCAGGACTGTAAT	0.254													5	37					0	0	0	0	C	10572189	A	C	10572189	3	2	435	1	0	0	0	0	1	0	0	0	8469	203	7	5		5	KLRC3	12	10572189	Missense_Mutation	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08	3317611	10572189	123279706	109	85891											
LIMA1	51474	broad.mit.edu	37	chr12	50616264	50616264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgctgggagagattttcgGtgttctagaagaacaagaag	13	10	14	4	1	1	4	0	0	1	4	2	6	1	5	0	2	2	2	0	2	5	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:50616264G>A	ENST00000341247.4	-	4	319	c.170C>T	c.(169-171)aCc>aTc	p.T57I	LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.T57I|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	57					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGATTTTCGGTGTTCTAGAA	0.433													24	87					0	0	0	0	A	50616264	G	A	50616264	3	1	435	1	0	0	0	0	1	0	0	0	8850	1261	44	4	2144	4	LIMA1	12	50616264	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	40044075	50616264	83235631	110	85892											
KRT82	3888	broad.mit.edu	37	chr12	52788815	52788815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgtcatgctggatttccGcccgctcccacagctcagta	7	10	9	15	3	2	0	2	0	0	0	4	1	4	1	3	1	3	4	3	1	2	3	rs139996519		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:52788815G>A	ENST00000257974.2	-	9	1563	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	496	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.R496W(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGGATTTCCGCCCGCTCCCA	0.642													26	69					0	0	0	0	A	52788815	G	A	52788815	3	1	435	1	0	0	0	0	1	0	0	0	8548	1086	38	1	59	1	KRT82	12	52788815	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	2172551	52788815	81063080	111	85893											
CAPS2	84698	broad.mit.edu	37	chr12	75706697	75706697	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcagccacaatttccTgggaagattaaataaagaca	15	10	7	9	0	1	2	0	0	1	2	3	3	2	3	2	1	2	1	2	1	6	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:75706697T>A	ENST00000393284.3	-	7	554		c.e7-2		CAPS2_ENST00000409799.1_Splice_Site|CAPS2_ENST00000409445.3_Splice_Site|CAPS2_ENST00000442339.2_Splice_Site|CAPS2_ENST00000409004.1_Splice_Site			Q9BXY5	CAYP2_HUMAN	calcyphosine 2								calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CACAATTTCCTGGGAAGATTA	0.343													5	24					0	0	0	0	A	75706697	T	A	75706697	5	1	435	1	0	0	0	0	0	0	1	0	2663	1594	55	5	1070	5	CAPS2	12	75706697	Splice_Site	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	22917882	75706697	58145198	112	85894											
NAP1L1	4673	broad.mit.edu	37	chr12	76449836	76449836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccatatcactgagcaagtCaacattcttaaaaacagtta	18	10	4	9	0	3	1	2	1	1	0	3	1	3	1	1	0	4	2	1	0	8	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:76449836C>T	ENST00000261182.8	-	7	1021	c.535G>A	c.(535-537)Gac>Aac	p.D179N	NAP1L1_ENST00000393263.3_Missense_Mutation_p.D179N|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D179N|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D190N|NAP1L1_ENST00000547993.1_5'UTR|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D111N|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D179N|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D138N|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D116N|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D137N	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	179					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				CTGAGCAAGTCAACATTCTTA	0.328													14	57					0	0	0	0	T	76449836	C	T	76449836	3	4	435	1	0	0	0	0	1	0	0	0	10226	826	29	2	676	2	NAP1L1	12	76449836	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	743139	76449836	57402059	113	85895											
PPFIA2	8499	broad.mit.edu	37	chr12	81675076	81675076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaatggacacggagatCtttttttgttaggtgatcta	10	18	9	4	1	2	2	0	1	2	1	2	4	2	3	0	3	0	1	0	3	4	7			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:81675076C>A	ENST00000550584.2	-	26	3467	c.3172G>T	c.(3172-3174)Gat>Tat	p.D1058Y	PPFIA2_ENST00000550359.2_Missense_Mutation_p.D905Y|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1037Y|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1043Y|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D957Y|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D953Y|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D244Y|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D1058Y|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1043Y|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D594Y|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1052Y	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	957										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACACGGAGATCTTTTTTTGTT	0.348													4	32					0.00024832	0.00025525	1	0	A	81675076	C	A	81675076	3	1	435	1	0	0	0	0	1	0	0	0	12381	913	32	2	625	2	PPFIA2	12	81675076	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	5225240	81675076	52176819	114	85896											
GNPTAB	79158	broad.mit.edu	37	chr12	102158696	102158696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttctttgggaatatcctCaaaaaggatttccgcctctg	9	16	7	9	1	3	0	1	0	2	0	5	2	5	2	3	2	0	0	3	2	4	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:102158696C>T	ENST00000299314.7	-	13	2261	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	667					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GGAATATCCTCAAAAAGGATT	0.428													5	53					0	0	0	0	T	102158696	C	T	102158696	3	4	435	1	0	0	0	0	1	0	0	0	6596	835	29	2	1807	2	GNPTAB	12	102158696	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	20483620	102158696	31693199	115	85897											
ABCB9	23457	broad.mit.edu	37	chr12	123434446	123434446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggtaaaaatgccgccccGaatacctgcggcaaatgagc	13	5	12	11	3	0	1	0	1	0	0	0	3	0	1	4	2	4	2	4	2	6	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:123434446G>A	ENST00000542678.1	-	4	3574	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ABCB9_ENST00000442833.2_Missense_Mutation_p.R246W|ABCB9_ENST00000344275.7_Missense_Mutation_p.R246W|ABCB9_ENST00000392439.3_Missense_Mutation_p.R246W|ABCB9_ENST00000280560.8_Missense_Mutation_p.R246W|ABCB9_ENST00000540285.1_Missense_Mutation_p.R246W|ABCB9_ENST00000346530.5_Missense_Mutation_p.R246W|ABCB9_ENST00000442028.2_Missense_Mutation_p.R246W			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	246	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.R246W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ATGCCGCCCCGAATACCTGCG	0.527													4	184					0	0	0	0	A	123434446	G	A	123434446	3	1	435	1	0	0	0	0	1	0	0	0	48	1057	37	1	1600	1	ABCB9	12	123434446	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	21275750	123434446	10417449	116	85898											
NBEA	26960	broad.mit.edu	37	chr13	35747697	35747697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcagtaaacctcaggaagTtcctcaaagtgtgactgcta	14	9	9	9	0	2	1	2	1	0	0	3	2	3	2	2	1	3	4	2	1	6	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr13:35747697T>C	ENST00000540320.1	+	27	5054	c.4520T>C	c.(4519-4521)gTt>gCt	p.V1507A	NBEA_ENST00000379939.2_Missense_Mutation_p.V1504A|NBEA_ENST00000310336.4_Missense_Mutation_p.V1507A|NBEA_ENST00000400445.3_Missense_Mutation_p.V1507A			Q8NFP9	NBEA_HUMAN	neurobeachin	1507						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCTCAGGAAGTTCCTCAAAGT	0.373													7	54					0	0	0	0	C	35747697	T	C	35747697	3	2	435	1	0	0	0	0	1	0	0	0	10257	1725	60	5	4626	5	NBEA	13	35747697	Missense_Mutation	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08		35747697	79422181	117	85899											
TGDS	23483	broad.mit.edu	37	chr13	95243181	95243181	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagcagtttcacaaagtgaGaatcacatatgtcaccctat	16	10	6	9	0	3	1	3	1	0	1	3	2	3	1	1	0	1	2	1	0	5	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr13:95243181G>C	ENST00000261296.5	-	4	359	c.239C>G	c.(238-240)tCt>tGt	p.S80C	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	80					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CACAAAGTGAGAATCACATAT	0.353													17	70					0	0	0	0	C	95243181	G	C	95243181	3	2	435	1	0	0	0	0	1	0	0	0	15908	942	33	2	849	2	TGDS	13	95243181	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	59495484	95243181	19926697	118	85900											
NALCN	259232	broad.mit.edu	37	chr13	101759890	101759890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtttctgaacctgtgttCtcgcccgacaatgaacagtg	11	11	9	10	2	2	2	0	2	2	0	3	3	2	2	2	0	2	2	2	0	4	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr13:101759890C>G	ENST00000251127.6	-	22	2608	c.2527G>C	c.(2527-2529)Gaa>Caa	p.E843Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	843						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACCTGTGTTCTCGCCCGACA	0.498													13	91					0	0	0	0	G	101759890	C	G	101759890	3	3	435	1	0	0	0	0	1	0	0	0	10218	922	32	2	2781	2	NALCN	13	101759890	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	6516709	101759890	13409988	119	85901											
SYT16	83851	broad.mit.edu	37	chr14	62550927	62550927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagagtggagggtctcCgctcagcccatctgcggttt	5	10	12	14	2	3	1	1	0	2	1	5	2	4	2	4	3	2	2	4	3	0	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:62550927C>T	ENST00000430451.2	+	5	1645	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	483										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGAGGGTCTCCGCTCAGCCCA	0.517													17	70					0	0	0	0	T	62550927	C	T	62550927	3	4	435	1	0	0	0	0	1	0	0	0	15563	652	23	1	1466	1	SYT16	14	62550927	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08		62550927	44798613	120	85902											
ZBTB1	22890	broad.mit.edu	37	chr14	64988828	64988828	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttccgtgtccaaattatcTactccaaaagaacgtgtgtc	12	12	7	10	2	1	1	0	0	1	1	5	1	4	1	3	0	2	1	3	0	6	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:64988828T>C	ENST00000358738.3	+	2	997	c.606T>C	c.(604-606)tcT>tcC	p.S202S	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Silent_p.S202S|ZBTB1_ENST00000394712.2_Silent_p.S202S	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CCAAATTATCTACTCCAAAAG	0.388													27	122					0	0	0	0	C	64988828	T	C	64988828	2	2	435	1	0	0	0	0	0	0	0	1	17617	1509	53	5		5	ZBTB1	14	64988828	Silent	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	2437901	64988828	42360712	121	85903											
MAP3K9	4293	broad.mit.edu	37	chr14	71200025	71200025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgaatgctgtaggcgactCtctccactccctgggccttc	5	11	11	14	1	1	1	0	1	1	0	5	2	3	1	3	3	1	2	3	3	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:71200025C>G	ENST00000554752.2	-	11	2060	c.2061G>C	c.(2059-2061)gaG>gaC	p.E687D	MAP3K9_ENST00000555993.2_Missense_Mutation_p.E701D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E420D|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E415D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E664D			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	687					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		gtaggcgactctctccactcc	0.532													5	28					0	0	0	0	G	71200025	C	G	71200025	3	3	435	1	0	0	0	0	1	0	0	0	9326	912	32	2	1261	2	MAP3K9	14	71200025	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	6211197	71200025	36149515	122	85904											
ACOT4	122970	broad.mit.edu	37	chr14	74062114	74062114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaaacagtctctgaacGgttacaggcccatggaaagg	12	7	11	11	1	1	1	0	1	1	0	2	2	1	2	2	4	4	1	2	4	4	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:74062114G>A	ENST00000326303.4	+	3	1276	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	341					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTCTCTGAACGGTTACAGGCC	0.517													14	60					0	0	0	0	A	74062114	G	A	74062114	3	1	435	1	0	0	0	0	1	0	0	0	153	1116	39	1	1032	1	ACOT4	14	74062114	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	2862089	74062114	33287426	123	85905											
FOXN3	1112	broad.mit.edu	37	chr14	89747335	89747335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaagaaggtactgcccGgccagatgggtggacctgat	9	9	14	9	1	1	4	0	2	1	2	1	5	1	5	3	4	2	1	3	4	3	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:89747335G>A	ENST00000345097.4	-	4	820	c.704C>T	c.(703-705)cCg>cTg	p.P235L	FOXN3_ENST00000261302.5_Missense_Mutation_p.P235L|FOXN3_ENST00000555353.1_Missense_Mutation_p.P235L|FOXN3_ENST00000557258.1_Missense_Mutation_p.P235L|FOXN3_ENST00000555658.1_5'UTR	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	235					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTACTGCCCGGCCAGATGGG	0.542													3	40					0	0	0	0	A	89747335	G	A	89747335	3	1	435	1	0	0	0	0	1	0	0	0	6068	1116	39	1	784	1	FOXN3	14	89747335	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	15685221	89747335	17602205	124	85906											
MYO1E	4643	broad.mit.edu	37	chr15	59494582	59494582	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcagcctgcagattttcCggaaataaagactttatgaa	13	13	8	7	1	1	3	1	1	0	2	2	4	2	4	2	1	2	1	2	1	5	6	rs142116200	byFrequency	TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr15:59494582C>T	ENST00000288235.4	-	16	2040	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	547	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCAGATTTTCCGGAAATAAAG	0.408													4	98					0	0	0	0	T	59494582	C	T	59494582	2	4	435	1	0	0	0	0	0	0	0	1	10142	639	23	1		1	MYO1E	15	59494582	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08		59494582	43036810	125	85907											
SIN3A	25942	broad.mit.edu	37	chr15	75682073	75682073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacatctctctcagtgaatCttcatactgtgatgagtcta	11	14	7	9	0	5	3	2	3	4	0	7	4	5	3	0	0	2	0	0	0	4	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr15:75682073C>G	ENST00000394947.3	-	16	3255	c.2941G>C	c.(2941-2943)Gat>Cat	p.D981H	SIN3A_ENST00000394949.4_Missense_Mutation_p.D981H|SIN3A_ENST00000360439.4_Missense_Mutation_p.D981H	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	981					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCAGTGAATCTTCATACTGT	0.483													43	92					0	0	0	0	G	75682073	C	G	75682073	3	3	435	1	0	0	0	0	1	0	0	0	14413	913	32	2	904	2	SIN3A	15	75682073	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	16187491	75682073	26849319	126	85908											
HAPLN3	145864	broad.mit.edu	37	chr15	89424836	89424836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatttgacacgcacacgcCgcggggagaccagggccggc	9	3	14	15	5	0	2	0	1	0	1	0	3	0	2	4	4	0	1	4	4	0	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr15:89424836C>T	ENST00000359595.3	-	3	459	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R144Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	82	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACGCACACGCCGCGGGGAGAC	0.662													31	117					0	0	0	0	T	89424836	C	T	89424836	3	4	435	1	0	0	0	0	1	0	0	0	7006	652	23	1	849	1	HAPLN3	15	89424836	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	13742763	89424836	13106556	127	85909											
FLYWCH1	84256	broad.mit.edu	37	chr16	2986360	2986362	+	In_Frame_Del	DEL	TCC	TCC	-																															tgctgctgtgcccctcagggTcctcctgcctcccgagcctc																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:2986360_2986362delTCC	ENST00000399667.2	+	8	1957_1959	c.1594_1596delTCC	c.(1594-1596)del	p.S533del	FLYWCH1_ENST00000253928.9_Intron|FLYWCH1_ENST00000416288.2_Intron|FLYWCH1_ENST00000570752.1_3'UTR			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	505						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCCCTCAGGGTCCTCCTGCCTCC	0.68													2	4	---	---	---	---					-	2986362	TCC	-	2986360	7	5	435	1	0	1	0	1	0	0	0	0	5992	1682	58	0		0	FLYWCH1	16	2986360	In_Frame_Del	DEL	TCC	TCGA-IQ-A61H-01A-11D-A30E-08		2986360	87368393	128	85910											
SOCS1	8651	broad.mit.edu	37	chr16	11349065	11349065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggctcggcgcgcagccgctCgtgcgccccgtgcacgctca	3	5	15	18	8	1	0	1	0	0	0	3	0	1	0	3	2	3	5	3	2	0	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:11349065C>T	ENST00000332029.2	-	2	421	c.271G>A	c.(271-273)Gag>Aag	p.E91K	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	91	SH2.				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	p.Y64fs*1(1)|p.0?(1)|p.D63_Q108del(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CGCAGCCGCTCGTGCGCCCCG	0.701			"F, O"		"Hodgkin Lymphoma, PMBL"								3	14					0	0	0	0	T	11349065	C	T	11349065	3	4	435	1	0	0	0	0	1	0	0	0	15001	893	31	1	368	1	SOCS1	16	11349065	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	8362705	11349065	79005688	129	85911											
CX3CL1	6376	broad.mit.edu	37	chr16	57416888	57416888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagagatggcggagggcCttcgctacatcccccggagc	8	5	15	13	3	0	1	0	0	0	1	2	5	1	4	3	5	2	1	3	5	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:57416888C>A	ENST00000565912.1	+	2	3730	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	CX3CL1_ENST00000563383.1_Missense_Mutation_p.L386I|CX3CL1_ENST00000006053.6_Missense_Mutation_p.L380I			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	380					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCGGAGGGCCTTCGCTACAT	0.587													19	103					5.03518e-11	5.62008e-11	1	0	A	57416888	C	A	57416888	3	1	435	1	0	0	0	0	1	0	0	0	4106	681	24	4	1148	4	CX3CL1	16	57416888	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	46067823	57416888	32937865	130	85912											
NFAT5	10725	broad.mit.edu	37	chr16	69727125	69727125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctctgaacaaatgcagcctCcaatgtttcactctcaaagt	12	11	5	13	0	3	1	2	1	2	0	5	1	4	1	3	0	3	2	3	0	4	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:69727125C>G	ENST00000349945.1	+	14	4667	c.3115C>G	c.(3115-3117)Cca>Gca	p.P1039A	NFAT5_ENST00000566899.1_Missense_Mutation_p.P1039A|NFAT5_ENST00000567239.1_Missense_Mutation_p.P1132A|NFAT5_ENST00000393742.2_Missense_Mutation_p.P1039A|NFAT5_ENST00000354436.2_Missense_Mutation_p.P1115A|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1133A	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1115					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AATGCAGCCTCCAATGTTTCA	0.443													25	191					0	0	0	0	G	69727125	C	G	69727125	3	3	435	1	0	0	0	0	1	0	0	0	10430	855	30	2	3447	2	NFAT5	16	69727125	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	12310237	69727125	20627628	131	85913											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			25	41					0	0	0	0	A	7578263	G	A	7578263	4	1	435	1	0	0	0	0	0	1	0	0	16476	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		7578263	73616947	132	85914											
GLP2R	9340	broad.mit.edu	37	chr17	9792806	9792806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcccaagaagctctcGgaaggagatggcgctgagaa	14	6	13	8	2	1	3	0	1	1	3	3	6	2	4	1	3	1	2	1	3	5	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:9792806G>A	ENST00000262441.5	+	13	1959	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	GLP2R_ENST00000574745.1_Silent_p.S302S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	482					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AGAAGCTCTCGGAAGGAGATG	0.597													34	79					0	0	0	0	A	9792806	G	A	9792806	2	1	435	1	0	0	0	0	0	0	0	1	6504	1103	39	1		1	GLP2R	17	9792806	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	2214543	9792806	71402404	133	85915											
MYH3	4621	broad.mit.edu	37	chr17	10533201	10533201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggacttgactttcacttgCagtttatccaccagatcctg	9	14	7	11	0	1	2	1	1	0	1	3	3	3	3	3	1	1	2	3	1	2	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:10533201C>T	ENST00000583535.1	-	39	5703	c.5616G>A	c.(5614-5616)ctG>ctA	p.L1872L	MYH3_ENST00000226209.7_Silent_p.L1872L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1872					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTTCACTTGCAGTTTATCCA	0.517													70	91					0	0	0	0	T	10533201	C	T	10533201	2	4	435	1	0	0	0	0	0	0	0	1	10106	697	25	4		4	MYH3	17	10533201	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	740395	10533201	70662009	134	85916											
ADAP2	55803	broad.mit.edu	37	chr17	29272068	29272068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgtgtatcatgaaagtggGaaggtgagatgcctggagtt	10	13	15	3	0	1	2	1	2	0	1	1	5	1	4	1	3	1	2	1	3	3	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:29272068G>A	ENST00000330889.3	+	6	989	c.654G>A	c.(652-654)ggG>ggA	p.G218G	ADAP2_ENST00000580525.1_Silent_p.G224G	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	218	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGAAAGTGGGAAGGTGAGAT	0.592													14	31					0	0	0	0	A	29272068	G	A	29272068	2	1	435	1	0	0	0	0	0	0	0	1	280	1161	41	2		2	ADAP2	17	29272068	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	18738867	29272068	51923142	135	85917											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274446	39274446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacacagcagctggggCgacagtaggtggtcctgcag	9	6	16	10	1	0	0	0	0	0	0	1	2	1	1	1	5	3	4	1	5	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:39274446C>T	ENST00000391413.2	-	1	160	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	41	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGACAGTAGGT	0.667													41	55					0	0	0	0	T	39274446	C	T	39274446	3	4	435	1	0	0	0	0	1	0	0	0	8602	768	27	1	469	1	KRTAP4-11	17	39274446	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	10002378	39274446	41920764	136	85918											
KRT16	3868	broad.mit.edu	37	chr17	39768535	39768535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggcctcctccagagcacGcaccttgtccaggtaggagg	7	8	13	13	1	0	1	0	0	0	1	3	2	3	2	5	4	1	4	5	4	1	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:39768535G>A	ENST00000301653.4	-	1	470	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	136	Coil 1A.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCAGAGCACGCACCTTGTCC	0.577													4	185					0	0	0	0	A	39768535	G	A	39768535	3	1	435	1	0	0	0	0	1	0	0	0	8505	1087	38	1	1047	1	KRT16	17	39768535	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	494089	39768535	41426675	137	85919											
STAT5A	6776	broad.mit.edu	37	chr17	40461401	40461401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttccttctgcaggtttgtGaatgcatctgcagatgctgg	6	15	11	9	0	3	2	0	1	3	1	4	2	4	2	1	2	4	5	1	2	1	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:40461401G>A	ENST00000345506.4	+	19	2763	c.2121G>A	c.(2119-2121)gtG>gtA	p.V707V	STAT5A_ENST00000587646.1_Silent_p.V195V|STAT5A_ENST00000590949.1_Silent_p.V707V|STAT5A_ENST00000588868.1_Silent_p.V676V|STAT5A_ENST00000452307.2_Silent_p.V704V|STAT5A_ENST00000546010.2_Silent_p.V677V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	707					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGGTTTGTGAATGCATCTG	0.617													6	43					0	0	0	0	A	40461401	G	A	40461401	2	1	435	1	0	0	0	0	0	0	0	1	15358	1277	45	2		2	STAT5A	17	40461401	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	692866	40461401	40733809	138	85920											
WNT9B	7484	broad.mit.edu	37	chr17	44950110	44950110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgctggaactgtagccTggagggcaggatgggcctgc	7	7	18	9	1	0	1	0	1	0	0	0	4	0	4	2	5	4	3	2	5	2	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:44950110T>C	ENST00000393461.2	+	2	358	c.305T>C	c.(304-306)cTg>cCg	p.L102P	WNT9B_ENST00000290015.2_Missense_Mutation_p.L102P			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	102					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AACTGTAGCCTGGAGGGCAGG	0.672													7	31					0	0	0	0	C	44950110	T	C	44950110	3	2	435	1	0	0	0	0	1	0	0	0	17495	1580	55	5	311	5	WNT9B	17	44950110	Missense_Mutation	SNP	T	TCGA-IQ-A61H-01A-11D-A30E-08	4488709	44950110	36245100	139	85921											
EVPL	2125	broad.mit.edu	37	chr17	74005051	74005051	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctccacgccggcccgcAgctgctgcacctcaagctct	5	7	9	20	3	2	0	1	0	1	0	4	0	4	0	5	1	4	6	5	1	1	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:74005051A>T	ENST00000301607.3	-	22	4488	c.4235T>A	c.(4234-4236)cTg>cAg	p.L1412Q	EVPL_ENST00000586740.1_Missense_Mutation_p.L1434Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1412	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCGGCCCGCAGCTGCTGCAC	0.697													47	76					0	0	0	0	T	74005051	A	T	74005051	3	4	435	1	0	0	0	0	1	0	0	0	5330	188	7	5	1870	5	EVPL	17	74005051	Missense_Mutation	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08	29054941	74005051	7190159	140	85922											
TSPAN10	83882	broad.mit.edu	37	chr17	79612378	79612378	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagggctggtggtcagcGcagtgagcctggctggctac	5	8	19	9	1	1	1	1	1	0	0	1	2	1	2	1	6	3	4	1	6	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:79612378G>A	ENST00000328585.4	+	0	487				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGTGGTCAGCGCAGTGAGCCT	0.672													4	12					0	0	0	0	A	79612378	G	A	79612378	1	1	435	0	1	0	0	0	0	0	0	0	16729	1087	38	1		1	TSPAN10	17	79612378	RNA	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	5607327	79612378	1582832	141	85923											
MYOM1	8736	broad.mit.edu	37	chr18	3188826	3188826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagaagtttcttcctgttGaagagcggatgtggcctgtt	7	15	12	7	1	2	3	1	1	1	2	3	4	3	4	2	2	1	3	2	2	2	5			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:3188826G>C	ENST00000400569.3	-	4	1024	c.691C>G	c.(691-693)Caa>Gaa	p.Q231E	MYOM1_ENST00000356443.4_Missense_Mutation_p.Q231E|MYOM1_ENST00000261606.7_Missense_Mutation_p.Q231E			P52179	MYOM1_HUMAN	myomesin 1	231						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTTCCTGTTGAAGAGCGGAT	0.493													20	48					0	0	0	0	C	3188826	G	C	3188826	3	2	435	1	0	0	0	0	1	0	0	0	10161	1299	45	2	4506	2	MYOM1	18	3188826	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		3188826	74888422	142	85924											
CTAGE1	64693	broad.mit.edu	37	chr18	19996126	19996126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgaggatcagttaacCtatcacagcttgattctcct	9	13	7	12	0	3	2	2	2	1	0	4	3	3	3	3	1	2	2	3	1	2	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:19996126C>G	ENST00000391403.2	-	1	1752	c.1649G>C	c.(1648-1650)aGg>aCg	p.R550T		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	550						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCAGTTAACCTATCACAGCT	0.537													16	115					0	0	0	0	G	19996126	C	G	19996126	3	3	435	1	0	0	0	0	1	0	0	0	4024	681	24	4	592	4	CTAGE1	18	19996126	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	16807300	19996126	58081122	143	85925											
DCC	1630	broad.mit.edu	37	chr18	51013227	51013227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacccaggaatcctccCgtctcccacctgtggatatc	8	9	7	17	1	1	0	0	0	1	0	5	2	3	2	6	2	1	1	6	2	3	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:51013227C>T	ENST00000442544.2	+	26	4413	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P901L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1266					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAATCCTCCCGTCTCCCACC	0.547													32	108					0	0	0	0	T	51013227	C	T	51013227	3	4	435	1	0	0	0	0	1	0	0	0	4314	652	23	1	3899	1	DCC	18	51013227	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	31017101	51013227	27064021	144	85926											
CDH7	1005	broad.mit.edu	37	chr18	63491992	63491992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggagtacaagattgtGgatggtgatggtttgggcat	11	12	16	2	0	0	2	0	1	0	1	0	5	0	4	0	5	1	3	0	5	3	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:63491992G>A	ENST00000536984.2	+	6	1600	c.906G>A	c.(904-906)gtG>gtA	p.V302V	CDH7_ENST00000397968.2_Silent_p.V302V|CDH7_ENST00000323011.3_Silent_p.V302V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	302	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACAAGATTGTGGATGGTGATG	0.378													5	55					0	0	0	0	A	63491992	G	A	63491992	2	1	435	1	0	0	0	0	0	0	0	1	3144	1335	47	4		4	CDH7	18	63491992	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	12478765	63491992	14585256	145	85927											
SALL3	27164	broad.mit.edu	37	chr18	76753377	76753377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcttctccaccaaaggcaaCctgaaggtgcacttccagag	11	7	9	14	1	1	2	0	1	1	1	3	2	2	2	4	2	2	3	4	2	3	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:76753377C>T	ENST00000536229.3	+	1	1696	c.987C>T	c.(985-987)aaC>aaT	p.N329N	SALL3_ENST00000575389.2_Silent_p.N462N|SALL3_ENST00000537592.2_Silent_p.N462N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCAAAGGCAACCTGAAGGTGC	0.622													8	26					0	0	0	0	T	76753377	C	T	76753377	2	4	435	1	0	0	0	0	0	0	0	1	13897	506	18	4		4	SALL3	18	76753377	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	13261385	76753377	1323871	146	85928											
NDUFA7	4701	broad.mit.edu	37	chr19	8385742	8385742	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcggggcctgctcaccGcttggagatctcctggtagc	5	8	15	13	3	2	1	1	0	1	1	3	3	2	1	3	4	3	3	3	4	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:8385742G>A	ENST00000301457.2	-	2	137	c.101_splice	c.e2+1	p.R34_splice	NDUFA7_ENST00000598884.1_Splice_Site_p.R34_splice	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	34					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	CCTGCTCACCGCTTGGAGATC	0.602													6	267					0	0	0	0	A	8385742	G	A	8385742	5	1	435	1	0	0	0	0	0	0	1	0	10340	1101	38	1	253	1	NDUFA7	19	8385742	Splice_Site	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		8385742	50743241	147	85929											
SMARCA4	6597	broad.mit.edu	37	chr19	11101923	11101923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcgccagtccctgcGcgaggcccgcatcactgaga	9	4	12	16	4	1	1	1	1	0	1	2	3	2	1	3	1	3	2	3	1	1	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:11101923G>A	ENST00000358026.2	+	8	1627	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R448H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R448H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R448H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R448H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	448					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGTCCCTGCGCGAGGCCCGC	0.657			"F, N, Mis"		NSCLC								6	38					0	0	0	0	A	11101923	G	A	11101923	3	1	435	1	0	0	0	0	1	0	0	0	14858	1087	38	1	1369	1	SMARCA4	19	11101923	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	2716181	11101923	48027060	148	85930											
RPL18A	6142	broad.mit.edu	37	chr19	17972909	17972909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctccttggcaggtgtttGagaagtcccccctgcgggtg	4	11	13	13	1	1	1	0	1	1	1	3	2	2	1	5	3	1	2	5	3	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:17972909G>C	ENST00000600147.1	+	3	241	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	RPL18A_ENST00000599870.1_Missense_Mutation_p.E40Q|RPL18A_ENST00000599898.1_Missense_Mutation_p.E30Q|RPL18A_ENST00000222247.5_Missense_Mutation_p.E69Q			Q02543	RL18A_HUMAN	ribosomal protein L18a	69					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GCAGGTGTTTGAGAAGTCCCC	0.607													16	46					0	0	0	0	C	17972909	G	C	17972909	3	2	435	1	0	0	0	0	1	0	0	0	13650	1291	45	2	215	2	RPL18A	19	17972909	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	6870986	17972909	41156074	149	85931											
ZNF208	7757	broad.mit.edu	37	chr19	22155266	22155266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatttgtagggtttctctCcagtatgaattaccttatgt	9	17	7	8	0	1	1	0	1	1	0	3	1	2	1	2	1	1	3	2	1	5	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:22155266C>A	ENST00000397126.4	-	4	2718	c.2570G>T	c.(2569-2571)gGa>gTa	p.G857V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTCCAGTATGAAT	0.373													6	58					8.12818e-05	8.39406e-05	1	0	A	22155266	C	A	22155266	3	1	435	1	0	0	0	0	1	0	0	0	17861	855	30	2	1276	2	ZNF208	19	22155266	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	4182357	22155266	36973717	150	85932											
ZFP30	22835	broad.mit.edu	37	chr19	38126661	38126661	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacccgtgtgaatcctttGatggagattaagttgtcctc	8	14	9	10	1	1	3	1	2	0	1	4	4	3	3	3	1	0	1	3	1	2	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:38126661G>C	ENST00000351218.2	-	6	1338	c.781C>G	c.(781-783)Caa>Gaa	p.Q261E	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.Q261E|ZFP30_ENST00000392144.1_Missense_Mutation_p.Q261E	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATCCTTTGATGGAGATTA	0.423													14	76					0	0	0	0	C	38126661	G	C	38126661	3	2	435	1	0	0	0	0	1	0	0	0	17739	1299	45	2	782	2	ZFP30	19	38126661	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	15971395	38126661	21002322	151	85933											
HIPK4	147746	broad.mit.edu	37	chr19	40885564	40885565	+	Frame_Shift_Ins	INS	-	-	G																															accatgctggtgggagcggcINSggggtgggagcccctgagcc																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:40885564_40885565insG	ENST00000291823.2	-	4	2064_2065	c.1780_1781insC	c.(1780-1782)ccgfs	p.P594fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	594						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGGGAGCGGCGGGGTGGGAGC	0.678													2	4	---	---	---	---					G	40885565	-	G	40885564	7	5	435	1	0	1	1	0	0	0	0	0	7169	768	27	0	73	0	HIPK4	19	40885564	Frame_Shift_Ins	INS	-	TCGA-IQ-A61H-01A-11D-A30E-08	2758903	40885564	18243419	152	85934											
ZNF574	64763	broad.mit.edu	37	chr19	42582950	42582950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagacacagcttcaggcacGggcctctatcagacccttgt	10	8	9	14	1	3	2	2	0	1	2	3	2	3	2	2	2	1	2	2	2	1	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:42582950G>A	ENST00000600245.1	+	2	847	c.192G>A	c.(190-192)acG>acA	p.T64T	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.T154T|ZNF574_ENST00000359044.4_Silent_p.T64T			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CTTCAGGCACGGGCCTCTATC	0.607													7	99					0	0	0	0	A	42582950	G	A	42582950	2	1	435	1	0	0	0	0	0	0	0	1	18101	1103	39	1		1	ZNF574	19	42582950	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	1697386	42582950	16546033	153	85935											
ZC3H4	23211	broad.mit.edu	37	chr19	47570716	47570716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccaggggaatgttcaCggccttctcccgcagggccc	5	8	14	14	2	2	0	1	0	1	0	4	1	3	1	4	5	0	2	4	5	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:47570716C>T	ENST00000253048.5	-	15	2846	c.2809G>A	c.(2809-2811)Gtg>Atg	p.V937M	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	937							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGAATGTTCACGGCCTTCTCC	0.667													50	174					0	0	0	0	T	47570716	C	T	47570716	3	4	435	1	0	0	0	0	1	0	0	0	17665	536	19	1	1106	1	ZC3H4	19	47570716	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	4987766	47570716	11558267	154	85936											
ZNF677	342926	broad.mit.edu	37	chr19	53754794	53754794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatataacttttacctgagAaagagccattccctcctctt	12	13	5	11	0	1	2	0	1	1	2	3	4	3	2	4	0	3	0	4	0	5	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:53754794A>G	ENST00000333952.4	-	3	175	c.10T>C	c.(10-12)Tct>Cct	p.S4P	ZNF677_ENST00000601413.1_Missense_Mutation_p.S4P|ZNF677_ENST00000598513.1_Missense_Mutation_p.S4P|ZNF677_ENST00000599012.1_Missense_Mutation_p.S4P|ZNF677_ENST00000595293.1_5'UTR|ZNF677_ENST00000598806.1_Missense_Mutation_p.S4P|ZNF677_ENST00000594681.1_Missense_Mutation_p.S4P|ZNF677_ENST00000601828.1_Missense_Mutation_p.S4P			Q86XU0	ZN677_HUMAN	zinc finger protein 677	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTACCTGAGAAAGAGCCATT	0.368													7	39					0	0	0	0	G	53754794	A	G	53754794	3	3	435	1	0	0	0	0	1	0	0	0	18179	246	9	5	1756	5	ZNF677	19	53754794	Missense_Mutation	SNP	A	TCGA-IQ-A61H-01A-11D-A30E-08	6184078	53754794	5374189	155	85937											
NLRP8	126205	broad.mit.edu	37	chr19	56466571	56466571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccaagtcttgagtttcGccatggaaaacaccattctc	12	10	8	11	1	2	2	0	1	2	1	4	4	2	3	3	1	1	1	3	1	3	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:56466571G>C	ENST00000291971.3	+	3	1218	c.1147G>C	c.(1147-1149)Gcc>Ccc	p.A383P	NLRP8_ENST00000590542.1_Missense_Mutation_p.A383P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	383	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTGAGTTTCGCCATGGAAAA	0.468													31	99					0	0	0	0	C	56466571	G	C	56466571	3	2	435	1	0	0	0	0	1	0	0	0	10553	1087	38	3	1157	3	NLRP8	19	56466571	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	2711777	56466571	2662412	156	85938											
ZIM2	23619	broad.mit.edu	37	chr19	57293445	57293445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcctcgaaggtcaccaaCtcctcaaacaccagaaatgt	15	7	5	14	1	2	1	2	0	0	1	5	2	4	1	4	1	2	0	4	1	4	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:57293445C>T	ENST00000391708.3	-	10	1064	c.522G>A	c.(520-522)gaG>gaA	p.E174E	ZIM2_ENST00000599935.1_Silent_p.E174E|ZIM2_ENST00000221722.5_Silent_p.E174E|ZIM2_ENST00000593711.1_Silent_p.E174E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Silent_p.E174E	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGGTCACCAACTCCTCAAACA	0.502													31	128					0	0	0	0	T	57293445	C	T	57293445	2	4	435	1	0	0	0	0	0	0	0	1	17779	564	20	4		4	ZIM2	19	57293445	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	826874	57293445	1835538	157	85939											
ZNF335	63925	broad.mit.edu	37	chr20	44596466	44596466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatttgaactgctgcaccaCcaccacctccatcatggcct	9	9	6	17	0	1	1	1	1	0	0	2	1	2	1	6	1	3	3	6	1	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:44596466C>T	ENST00000322927.2	-	5	821	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Missense_Mutation_p.V86M	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGCTGCACCACCACCACCTCC	0.667													39	51					0	0	0	0	T	44596466	C	T	44596466	3	4	435	1	0	0	0	0	1	0	0	0	17947	507	18	4	3403	4	ZNF335	20	44596466	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08		44596466	18429054	158	85940											
PREX1	57580	broad.mit.edu	37	chr20	47296206	47296206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taccttggacatgatgtcctCcagctcacttcgggccttgt	6	13	9	13	1	1	1	1	1	0	0	4	2	3	2	4	2	2	1	4	2	1	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:47296206C>G	ENST00000396220.1	-	12	1544	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q	PREX1_ENST00000371941.3_Missense_Mutation_p.E508Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	508					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGATGTCCTCCAGCTCACTT	0.592													19	80					0	0	0	0	G	47296206	C	G	47296206	3	3	435	1	0	0	0	0	1	0	0	0	12556	864	30	2	3573	2	PREX1	20	47296206	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	2699740	47296206	15729314	159	85941											
PTGIS	5740	broad.mit.edu	37	chr20	48129715	48129715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgaattctcgcccgtctgCcatgggcatggccaggtcca	6	10	12	13	2	2	1	0	1	2	0	4	1	3	1	4	3	1	2	4	3	1	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:48129715C>T	ENST00000244043.4	-	8	1137	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	370					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CGCCCGTCTGCCATGGGCATG	0.617													51	70					0	0	0	0	T	48129715	C	T	48129715	3	4	435	1	0	0	0	0	1	0	0	0	12832	739	26	4	406	4	PTGIS	20	48129715	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	833509	48129715	14895805	160	85942											
LAMA5	3911	broad.mit.edu	37	chr20	60913316	60913316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggaagtgaaagtagccGggggcacagcgatcacatgt	13	5	16	7	2	1	2	1	1	0	1	1	4	1	3	1	3	2	2	1	3	3	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:60913316G>A	ENST00000252999.3	-	13	1794	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	576	Laminin EGF-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAGTAGCCGGGGGCACAGC	0.672													5	18					0	0	0	0	A	60913316	G	A	60913316	2	1	435	1	0	0	0	0	0	0	0	1	8662	1103	39	1		1	LAMA5	20	60913316	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	12783601	60913316	2112204	161	85943											
C20orf195	79025	broad.mit.edu	37	chr20	62187169	62187169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcaatgccctgcgtgagttCctgacctcggacctgagtcc	6	9	11	15	3	0	3	0	3	0	0	3	4	2	4	5	1	2	2	5	1	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:62187169C>T	ENST00000370098.3	+	2	245	c.153C>T	c.(151-153)ttC>ttT	p.F51F	C20orf195_ENST00000370097.1_Silent_p.F51F	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	51										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGCGTGAGTTCCTGACCTCGG	0.637													21	54					0	0	0	0	T	62187169	C	T	62187169	2	4	435	1	0	0	0	0	0	0	0	1	2120	854	30	2		2	C20orf195	20	62187169	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	1273853	62187169	838351	162	85944											
PCMTD2	55251	broad.mit.edu	37	chr20	62891516	62891516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattcacctctcagccccGtgcatctactcggaggtgat	9	10	8	14	2	3	1	2	1	2	0	5	2	3	2	3	2	4	1	3	2	2	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:62891516G>A	ENST00000308824.6	+	2	325	c.198G>A	c.(196-198)ccG>ccA	p.P66P	PCMTD2_ENST00000369758.3_Silent_p.P66P|PCMTD2_ENST00000299468.7_Silent_p.P66P	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	66						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			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)					TCTCAGCCCCGTGCATCTACT	0.493													77	81					0	0	0	0	A	62891516	G	A	62891516	2	1	435	1	0	0	0	0	0	0	0	1	11658	1132	40	1		1	PCMTD2	20	62891516	Silent	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	704347	62891516	134004	163	85945											
TPTE	7179	broad.mit.edu	37	chr21	10920159	10920159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttctccaaaataatacagGctttcctacaaaaaagggta	16	11	5	9	0	1	0	0	0	1	0	3	0	2	0	2	2	2	2	2	2	9	6			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr21:10920159G>T	ENST00000298232.7	-	18	1408	c.1041C>A	c.(1039-1041)agC>agA	p.S347R	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S327R|TPTE_ENST00000361285.4_Missense_Mutation_p.S365R	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	365	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATAATACAGGCTTTCCTACA	0.388													5	73					5.9392e-07	6.37167e-07	1	0	T	10920159	G	T	10920159	3	4	435	1	0	0	0	0	1	0	0	0	16525	1194	42	4	584	4	TPTE	21	10920159	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		10920159	37209736	164	85946											
CECR6	27439	broad.mit.edu	37	chr22	17601203	17601203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggcagatgcaggggcGgcgcggcgtggtggtggtgc	3	5	25	8	5	0	1	0	0	0	1	0	1	0	1	0	9	2	2	0	9	0	0			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:17601203G>T	ENST00000331437.3	-	1	940	c.815C>A	c.(814-816)cCg>cAg	p.P272Q	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	272	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ATGCAGGGGCGGCGCGGCGTG	0.806													8	23					2.74318e-10	3.03121e-10	1	0	T	17601203	G	T	17601203	3	4	435	1	0	0	0	0	1	0	0	0	3237	1116	39	3	925	3	CECR6	22	17601203	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		17601203	33703363	165	85947											
CECR2	27443	broad.mit.edu	37	chr22	17979677	17979677	+	Frame_Shift_Del	DEL	A	A	-																															tattagggaaagtgaaggacAaaaaaatgtctcaagtattc																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:17979677delA	ENST00000262608.8	+	4	437	c.437delA	c.(436-438)cafs	p.Q146fs	CECR2_ENST00000400573.4_Frame_Shift_Del_p.Q165fs|CECR2_ENST00000400585.2_Frame_Shift_Del_p.Q24fs|CECR2_ENST00000342247.5_Frame_Shift_Del_p.Q145fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	187					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGTGAAGGACAAAAAAATGTC	0.363													2	4	---	---	---	---					-	17979677	A	-	17979677	7	5	435	1	0	1	0	1	0	0	0	0	3235	130	5	0	450	0	CECR2	22	17979677	Frame_Shift_Del	DEL	A	TCGA-IQ-A61H-01A-11D-A30E-08	378474	17979677	33324889	166	85948											
CRKL	1399	broad.mit.edu	37	chr22	21304075	21304075	+	Frame_Shift_Del	DEL	T	T	-																															agtgaacgggcgcaaagggcTtttcccctttacgcacgtca																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:21304075delT	ENST00000354336.3	+	3	1363	c.854delT	c.(853-855)ctfs	p.L285fs		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	285	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CGCAAAGGGCTTTTCCCCTTT	0.468													8	1078	---	---	---	---					-	21304075	T	-	21304075	7	5	435	1	0	1	0	1	0	0	0	0	3915	1609	56	0	864	0	CRKL	22	21304075	Frame_Shift_Del	DEL	T	TCGA-IQ-A61H-01A-11D-A30E-08	3324398	21304075	30000491	167	85949											
THAP7	80764	broad.mit.edu	37	chr22	21355551	21355551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagggaggcccacctgattCccaccagctcaaagcagtcc	10	5	10	16	0	1	1	1	1	0	0	3	2	3	2	5	2	2	3	5	2	1	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:21355551C>T	ENST00000215742.4	-	2	404	c.230G>A	c.(229-231)gGa>gAa	p.G77E	THAP7_ENST00000399133.2_Missense_Mutation_p.G77E	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	77					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCACCTGATTCCCACCAGCTC	0.652													44	555					0	0	0	0	T	21355551	C	T	21355551	3	4	435	1	0	0	0	0	1	0	0	0	15943	855	30	2	711	2	THAP7	22	21355551	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	51476	21355551	29949015	168	85950											
NAGA	4668	broad.mit.edu	37	chr22	42457071	42457071	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacttcgatgagagatttttCctgggcacagaaggtggcta	10	11	12	8	1	0	3	0	1	0	2	2	5	1	3	1	3	0	2	1	3	2	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:42457071C>T	ENST00000396398.3	-	8	1490	c.957_splice	c.e8-1	p.E320_splice	NAGA_ENST00000402937.1_Splice_Site_p.E320_splice|NAGA_ENST00000403363.1_Splice_Site_p.E320_splice	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	320					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGAGATTTTTCCTGGGCACAG	0.567													11	37					0	0	0	0	T	42457071	C	T	42457071	5	4	435	1	0	0	0	0	0	0	1	0	10211	869	30	2	285	2	NAGA	22	42457071	Splice_Site	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	21101520	42457071	8847495	169	85951											
ZBED1	9189	broad.mit.edu	37	chrX	2408255	2408255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagggatggccttggtaGagatgtacttccggctgggc	6	11	15	9	1	1	1	1	0	1	1	3	3	2	2	2	5	1	3	2	5	2	4			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:2408255G>C	ENST00000381223.4	-	2	709	c.506C>G	c.(505-507)tCt>tGt	p.S169C	ZBED1_ENST00000381218.3_Missense_Mutation_p.S169C|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S169C	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	169						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCTTGGTAGAGATGTACTT	0.642													52	145					0	0	0	0	C	2408255	G	C	2408255	3	2	435	1	0	0	0	0	1	0	0	0	17613	942	33	2	1582	2	ZBED1	23	2408255	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08		2408255	152862305	170	85952											
ARHGAP6	395	broad.mit.edu	37	chrX	11206869	11206869	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctagcccgaggagcCggttccggggtgtttgggga	4	9	16	12	3	0	0	0	0	0	0	3	3	3	2	5	6	2	2	5	6	1	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:11206869C>G	ENST00000337414.4	-	4	1928	c.1056G>C	c.(1054-1056)ccG>ccC	p.P352P	ARHGAP6_ENST00000534860.1_Silent_p.P177P|ARHGAP6_ENST00000380736.1_Silent_p.P149P|ARHGAP6_ENST00000303025.6_Silent_p.P149P|ARHGAP6_ENST00000380718.1_Silent_p.P352P|ARHGAP6_ENST00000413512.3_Silent_p.P161P|ARHGAP6_ENST00000380732.3_Silent_p.P384P	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	352					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCGAGGAGCCGGTTCCGGGG	0.468													19	33					0	0	0	0	G	11206869	C	G	11206869	2	3	435	1	0	0	0	0	0	0	0	1	889	639	23	3		3	ARHGAP6	23	11206869	Silent	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	8798614	11206869	144063691	171	85953											
PCYT1B	9468	broad.mit.edu	37	chrX	24593404	24593404	+	Frame_Shift_Del	DEL	T	T	-																															tgactttttccttcattttgTccacttggttctggaaacgg																										TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:24593404delT	ENST00000379145.1	-	7	730	c.686delA	c.(685-687)gcfs	p.D229fs	PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.D247fs|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Frame_Shift_Del_p.D247fs	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	247	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTTCATTTTGTCCACTTGGTT	0.378													15	22	---	---	---	---					-	24593404	T	-	24593404	7	5	435	1	0	1	0	1	0	0	0	0	11682	1667	58	0	414	0	PCYT1B	23	24593404	Frame_Shift_Del	DEL	T	TCGA-IQ-A61H-01A-11D-A30E-08	13386535	24593404	130677156	172	85954											
HEPH	9843	broad.mit.edu	37	chrX	65390540	65390540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggaactatgctcccaaggGaagaaatgtcatcacgaacc	14	7	10	10	1	2	1	2	0	0	1	3	4	3	3	2	2	3	1	2	2	6	1			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:65390540G>A	ENST00000519389.1	+	2	469	c.290G>A	c.(289-291)gGa>gAa	p.G97E	HEPH_ENST00000343002.2_Missense_Mutation_p.G43E|HEPH_ENST00000419594.1_Missense_Mutation_p.G46E|HEPH_ENST00000374727.3_Missense_Mutation_p.G46E|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.G46E			Q9BQS7	HEPH_HUMAN	hephaestin	43	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTCCCAAGGGAAGAAATGTC	0.502													11	19					0	0	0	0	A	65390540	G	A	65390540	3	1	435	1	0	0	0	0	1	0	0	0	7104	1174	41	2	296	2	HEPH	23	65390540	Missense_Mutation	SNP	G	TCGA-IQ-A61H-01A-11D-A30E-08	40797136	65390540	89880020	173	85955											
GDPD2	54857	broad.mit.edu	37	chrX	69649407	69649407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaggctgagagtcagaCggtaccagcattagaagagc	15	5	14	7	1	1	5	1	1	0	5	1	7	1	5	1	2	3	3	1	2	4	2			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:69649407C>T	ENST00000453994.2	+	11	1362	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GDPD2_ENST00000536730.1_Missense_Mutation_p.T255M|GDPD2_ENST00000374382.3_Missense_Mutation_p.T334M|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.T255M	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	334	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GAGAGTCAGACGGTACCAGCA	0.517													3	41					0	0	0	0	T	69649407	C	T	69649407	3	4	435	1	0	0	0	0	1	0	0	0	6375	536	19	1	1039	1	GDPD2	23	69649407	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	4258867	69649407	85621153	174	85956											
PLXNA3	55558	broad.mit.edu	37	chrX	153697014	153697014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttgccctaggacagagtCagtggctgagaagatgctta	10	10	12	9	0	2	3	1	1	1	3	2	5	2	4	1	2	2	2	1	2	3	3			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:153697014C>T	ENST00000369682.3	+	24	4404	c.4229C>T	c.(4228-4230)tCa>tTa	p.S1410L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1410					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGACAGAGTCAGTGGCTGAG	0.627													12	48					0	0	0	0	T	153697014	C	T	153697014	3	4	435	1	0	0	0	0	1	0	0	0	12193	838	29	2	4319	2	PLXNA3	23	153697014	Missense_Mutation	SNP	C	TCGA-IQ-A61H-01A-11D-A30E-08	84047607	153697014	1573546	175	85957											
PLCH2	9651	broad.mit.edu	37	chr1	2428982	2428982	+	Frame_Shift_Del	DEL	A	A	-																															aggggcggatgctgcagctgAaccgagccaagttcagcgcc																										TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:2428982delA	ENST00000449969.1	+	16	2238	c.2077delA	c.(2077-2079)acfs	p.N693fs	PLCH2_ENST00000378488.3_Intron|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Frame_Shift_Del_p.N720fs|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Frame_Shift_Del_p.N720fs			O75038	PLCH2_HUMAN	phospholipase C, eta 2	720	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCTGCAGCTGAACCGAGCCAA	0.642													2	4	---	---	---	---					-	2428982	A	-	2428982	7	5	436	1	0	1	0	1	0	0	0	0	12110	246	9	0	2220	0	PLCH2	1	2428982	Frame_Shift_Del	DEL	A	TCGA-IQ-A61I-01A-11D-A30E-08		2428982	246821639	1	85958											
MMEL1	79258	broad.mit.edu	37	chr1	2538439	2538439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgttccacctgtccatcGccaccggccagcctcccacc	5	8	6	22	3	1	0	0	0	1	0	6	0	4	0	9	1	1	1	9	1	0	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:2538439G>A	ENST00000288709.6	-	7	818	c.578C>T	c.(577-579)gCg>gTg	p.A193V	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.A202V	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	202					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTGTCCATCGCCACCGGCCA	0.632													37	64					0	0	0	0	A	2538439	G	A	2538439	3	1	436	1	0	0	0	0	1	0	0	0	9715	1087	38	1	1806	1	MMEL1	1	2538439	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	109457	2538439	246712182	2	85959											
NPHP4	261734	broad.mit.edu	37	chr1	5925255	5925255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcgggtcagctggcctgcGacgcaggagacatccacgcg	8	4	16	13	5	1	1	1	0	0	1	2	3	2	1	2	4	2	2	2	4	0	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:5925255G>A	ENST00000378156.4	-	27	3988	c.3723C>T	c.(3721-3723)gtC>gtT	p.V1241V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1241					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCCTGCGACGCAGGAGA	0.632													10	14					0	0	0	0	A	5925255	G	A	5925255	2	1	436	1	0	0	0	0	0	0	0	1	10651	1045	37	1		1	NPHP4	1	5925255	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	3386816	5925255	243325366	3	85960											
KIF1B	23095	broad.mit.edu	37	chr1	10364320	10364320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggctctcaaggaatgaGaagtcaagatcacatccaag	15	7	11	8	0	3	2	3	1	1	2	5	4	4	3	1	3	0	1	1	3	5	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:10364320G>A	ENST00000377093.4	+	21	3230	c.3077G>A	c.(3076-3078)aGa>aAa	p.R1026K	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R1026K|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	619					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAAGGAATGAGAAGTCAAGAT	0.453													12	249					0	0	0	0	A	10364320	G	A	10364320	3	1	436	1	0	0	0	0	1	0	0	0	8335	942	33	2	3155	2	KIF1B	1	10364320	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	4439065	10364320	238886301	4	85961											
PGD	5226	broad.mit.edu	37	chr1	10479725	10479725	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggctcacacctatgaactCttggccaaaccagggcagtt	10	8	11	12	0	2	1	1	1	1	0	2	1	2	1	3	4	2	3	3	4	3	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:10479725C>G	ENST00000538557.1	+	13	1576	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L	PGD_ENST00000270776.8_Silent_p.L457L|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.L435L			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	457					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CCTATGAACTCTTGGCCAAAC	0.582													5	105					0	0	0	0	G	10479725	C	G	10479725	2	3	436	1	0	0	0	0	0	0	0	1	11859	900	32	2		2	PGD	1	10479725	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	115405	10479725	238770896	5	85962											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12266899	12266899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctcctcccaagccagctCcacaatgggagacacagatt	11	7	9	14	0	0	2	0	0	0	2	3	3	3	2	4	1	3	2	4	1	2	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:12266899C>T	ENST00000376259.3	+	10	1297	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	403					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CAAGCCAGCTCCACAATGGGA	0.597													28	48					0	0	0	0	T	12266899	C	T	12266899	3	4	436	1	0	0	0	0	1	0	0	0	16388	855	30	2	1246	2	TNFRSF1B	1	12266899	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	1787174	12266899	236983722	6	85963											
TAS1R2	80834	broad.mit.edu	37	chr1	19166330	19166330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtcatgctgagggtgatGaacttggcctcgttgtagtt	8	13	14	6	1	1	3	1	3	0	0	2	3	1	3	1	3	2	4	1	3	3	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:19166330G>A	ENST00000375371.3	-	6	2304	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	761					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGAGGGTGATGAACTTGGCCT	0.562													10	30					0	0	0	0	A	19166330	G	A	19166330	2	1	436	1	0	0	0	0	0	0	0	1	15654	1281	45	2		2	TAS1R2	1	19166330	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	6899431	19166330	230084291	7	85964											
ASAP3	55616	broad.mit.edu	37	chr1	23760011	23760011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggcaaaggtccccgcCtgggcctgctccagctgcca	7	5	14	15	1	0	0	0	0	0	0	2	1	2	1	6	4	3	3	6	4	2	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:23760011C>T	ENST00000336689.3	-	21	2078	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	ASAP3_ENST00000495646.1_Silent_p.Q182Q|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Silent_p.Q669Q	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	678					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGGTCCCCGCCTGGGCCTGCT	0.592													57	123					0	0	0	0	T	23760011	C	T	23760011	2	4	436	1	0	0	0	0	0	0	0	1	1016	680	24	4		4	ASAP3	1	23760011	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	4593681	23760011	225490610	8	85965											
WASF2	10163	broad.mit.edu	37	chr1	27736222	27736222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcaggtcgctacgggcatCgctcacggcaggcaaggagg	10	4	16	11	4	1	0	1	0	0	0	3	1	1	1	0	6	2	6	0	6	3	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:27736222C>T	ENST00000430629.2	-	8	1518	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	435					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CTACGGGCATCGCTCACGGCA	0.562													4	74					0	0	0	0	T	27736222	C	T	27736222	3	4	436	1	0	0	0	0	1	0	0	0	17349	884	31	1	201	1	WASF2	1	27736222	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	3976211	27736222	221514399	9	85966											
AHDC1	27245	broad.mit.edu	37	chr1	27874638	27874638	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacgccgaaggccctcGactgtgagggcagtggtgac	7	6	14	14	3	0	2	0	2	0	0	2	4	1	2	3	3	0	1	3	3	1	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:27874638G>T	ENST00000374011.2	-	6	4957	c.3989C>A	c.(3988-3990)tCg>tAg	p.S1330*	AHDC1_ENST00000247087.5_Nonsense_Mutation_p.S1330*|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1330							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAAGGCCCTCGACTGTGAGGG	0.612													25	40					3.08376e-08	3.17145e-08	1	0	T	27874638	G	T	27874638	4	4	436	1	0	0	0	0	0	1	0	0	412	1059	37	3	826	3	AHDC1	1	27874638	Nonsense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	138416	27874638	221375983	10	85967											
HEYL	26508	broad.mit.edu	37	chr1	40092420	40092420	+	Frame_Shift_Del	DEL	C	C	-																															tcgctggcctctctagggggCgggccctccgggtggaagat																										TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:40092420delC	ENST00000372852.3	-	5	1065	c.746delG	c.(745-747)ccfs	p.R249fs	HEYL_ENST00000535435.1_Frame_Shift_Del_p.R221fs	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	249	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCTAGGGGGCGGGCCCTCCG	0.692													2	4	---	---	---	---					-	40092420	C	-	40092420	7	5	436	1	0	1	0	1	0	0	0	0	7130	768	27	0	244	0	HEYL	1	40092420	Frame_Shift_Del	DEL	C	TCGA-IQ-A61I-01A-11D-A30E-08	12217782	40092420	209158201	11	85968											
MAST2	23139	broad.mit.edu	37	chr1	46496348	46496348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccgaccaagcgcagcCtgagtgaggagaaggaggac	12	2	14	13	2	0	3	0	2	0	1	0	7	0	5	4	3	2	1	4	3	2	0	rs12757963		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:46496348C>T	ENST00000361297.2	+	22	2906	c.2623C>T	c.(2623-2625)Ctg>Ttg	p.L875L	MAST2_ENST00000372008.1_Silent_p.L760L|MAST2_ENST00000372009.2_Silent_p.L805L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	875					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCGCAGCCTGAGTGAGGA	0.647													5	12					0	0	0	0	T	46496348	C	T	46496348	2	4	436	1	0	0	0	0	0	0	0	1	9394	680	24	4		4	MAST2	1	46496348	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	6403928	46496348	202754273	12	85969											
CPT2	1376	broad.mit.edu	37	chr1	53676457	53676457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctactgccgtccactttGagcactcttggggtgatggt	5	13	12	11	1	2	2	0	2	2	0	3	2	3	2	2	3	3	2	2	3	1	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:53676457G>A	ENST00000371486.3	+	4	1626	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	371					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CGTCCACTTTGAGCACTCTTG	0.498													14	27					0	0	0	0	A	53676457	G	A	53676457	3	1	436	1	0	0	0	0	1	0	0	0	3864	1291	45	2	1125	2	CPT2	1	53676457	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	7180109	53676457	195574164	13	85970											
USP1	7398	broad.mit.edu	37	chr1	62913122	62913122	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaagaagagaagattttCaagacatcagtgtgccagta	17	8	10	6	0	2	5	2	0	0	5	2	6	2	5	1	0	1	1	1	0	5	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:62913122C>T	ENST00000339950.4	+	7	2175	c.1360C>T	c.(1360-1362)Caa>Taa	p.Q454*	USP1_ENST00000371146.1_Nonsense_Mutation_p.Q454*	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	454					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGAAGATTTTCAAGACATCAG	0.388													15	28					0	0	0	0	T	62913122	C	T	62913122	4	4	436	1	0	0	0	0	0	1	0	0	17136	827	29	2	1382	2	USP1	1	62913122	Nonsense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	9236665	62913122	186337499	14	85971											
ZRANB2	9406	broad.mit.edu	37	chr1	71544247	71544247	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttggcctcagttgttttCtctgaaaacagaaaaatcat	13	14	6	8	0	4	2	2	1	2	1	5	2	4	2	1	1	1	2	1	1	4	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:71544247C>T	ENST00000370920.3	-	3	412	c.109_splice	c.e3-1	p.E37_splice	ZRANB2_ENST00000254821.6_Splice_Site_p.E37_splice	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	37					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CAGTTGTTTTCTCTGAAAACA	0.373													24	59					0	0	0	0	T	71544247	C	T	71544247	5	4	436	1	0	0	0	0	0	0	1	0	18316	927	32	2	951	2	ZRANB2	1	71544247	Splice_Site	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	8631125	71544247	177706374	15	85972											
PVRL4	81607	broad.mit.edu	37	chr1	161043042	161043042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagctactgttgtccttGagactatcagggtggccctc	7	11	12	11	0	1	1	1	1	0	1	3	3	2	1	2	2	3	3	2	2	2	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:161043042G>A	ENST00000368012.3	-	8	1583	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	427					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGTTGTCCTTGAGACTATCAG	0.652													5	37					0	0	0	0	A	161043042	G	A	161043042	2	1	436	1	0	0	0	0	0	0	0	1	12924	1277	45	2		2	PVRL4	1	161043042	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	89498795	161043042	88207579	16	85973											
B4GALT3	8703	broad.mit.edu	37	chr1	161142103	161142103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggggccgagagatcttCatcccagccaggcgcaccct	7	6	14	14	2	2	1	1	0	1	1	3	3	3	1	4	4	1	1	4	4	0	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:161142103C>A	ENST00000319769.5	-	7	1044	c.822G>T	c.(820-822)atG>atT	p.M274I	PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.M274I|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	274					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GAGAGATCTTCATCCCAGCCA	0.488													14	33					7.93312e-07	8.0821e-07	1	0	A	161142103	C	A	161142103	3	1	436	1	0	0	0	0	1	0	0	0	1276	826	29	2	367	2	B4GALT3	1	161142103	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	99061	161142103	88108518	17	85974											
FCGR2A	2212	broad.mit.edu	37	chr1	161480645	161480645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccagcatgggcagctcttCaccaatggggatcattgtgg	8	9	13	11	0	3	0	2	0	1	0	3	1	3	1	2	4	2	3	2	4	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:161480645C>T	ENST00000271450.6	+	5	679	c.641C>T	c.(640-642)tCa>tTa	p.S214L	FCGR2A_ENST00000367972.4_Missense_Mutation_p.S213L|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	214						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGCAGCTCTTCACCAATGGGG	0.507													40	152					0	0	0	0	T	161480645	C	T	161480645	3	4	436	1	0	0	0	0	1	0	0	0	5826	838	29	2	659	2	FCGR2A	1	161480645	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	338542	161480645	87769976	18	85975											
HSPA6	3310	broad.mit.edu	37	chr1	161495032	161495032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcggggcgcgggagagcGcaacgtgctcatttttgacc	6	7	16	12	6	1	2	1	1	0	1	1	3	1	2	2	4	3	2	2	4	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:161495032G>A	ENST00000309758.4	+	1	997	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	195					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCGGGAGAGCGCAACGTGCTC	0.627													15	55					0	0	0	0	A	161495032	G	A	161495032	3	1	436	1	0	0	0	0	1	0	0	0	7467	1087	38	1	586	1	HSPA6	1	161495032	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	14387	161495032	87755589	19	85976											
FMOD	2331	broad.mit.edu	37	chr1	203316865	203316865	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcgagatggagctctctCagggatcgaggcaggggacc	8	7	17	9	2	2	1	1	0	1	1	5	6	2	4	1	6	1	2	1	6	0	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:203316865C>G	ENST00000354955.4	-	2	997	c.534G>C	c.(532-534)ctG>ctC	p.L178L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	178					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGAGCTCTCTCAGGGATCGAG	0.597													108	79					0	0	0	0	G	203316865	C	G	203316865	2	3	436	1	0	0	0	0	0	0	0	1	6004	813	29	2		2	FMOD	1	203316865	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	41821833	203316865	45933756	20	85977											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438434	204438434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaggggaggggtatccCagatagaagctcggggaggc	10	4	20	7	1	0	2	0	0	0	2	2	5	1	4	1	8	1	3	1	8	3	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:204438434C>G	ENST00000367187.3	-	3	1053	c.497G>C	c.(496-498)tGg>tCg	p.W166S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.W166S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	166	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGGGTATCCCAGATAGAAGC	0.577													9	157					0	0	0	0	G	204438434	C	G	204438434	3	3	436	1	0	0	0	0	1	0	0	0	11982	595	21	4	4535	4	PIK3C2B	1	204438434	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	1121569	204438434	44812187	21	85978											
CD34	947	broad.mit.edu	37	chr1	208072511	208072511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtctgtgactggacagaaGagtttgtgtttccataaact	11	13	11	6	0	1	3	0	1	1	2	2	4	2	4	1	2	1	2	1	2	3	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:208072511G>A	ENST00000356522.4	-	3	644	c.323C>T	c.(322-324)tCt>tTt	p.S108F	CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Missense_Mutation_p.S108F	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	108					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGGACAGAAGAGTTTGTGTT	0.473													54	184					0	0	0	0	A	208072511	G	A	208072511	3	1	436	1	0	0	0	0	1	0	0	0	3035	942	33	2	877	2	CD34	1	208072511	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	3634077	208072511	41178110	22	85979											
C1orf35	79169	broad.mit.edu	37	chr1	228290723	228290723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgcggcccttctgccagCggcctaccggcgccatcagc	4	6	13	18	5	2	0	1	0	1	0	3	0	2	0	5	4	4	0	5	4	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:228290723C>T	ENST00000272139.4	-	2	356	c.122G>A	c.(121-123)cGc>cAc	p.R41H	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	41										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CTTCTGCCAGCGGCCTACCGG	0.761													3	7					0	0	0	0	T	228290723	C	T	228290723	3	4	436	1	0	0	0	0	1	0	0	0	2058	768	27	1	697	1	C1orf35	1	228290723	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	20218212	228290723	20959898	23	85980											
KIF26B	55083	broad.mit.edu	37	chr1	245849209	245849209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgggggcaagcccactctCtgagtctgataaggaagata	12	7	13	9	1	2	3	0	2	2	1	3	4	2	4	1	3	2	1	1	3	4	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:245849209C>G	ENST00000366518.4	+	9	1885	c.1781C>G	c.(1780-1782)tCt>tGt	p.S594C	KIF26B_ENST00000407071.2_Missense_Mutation_p.S975C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	975	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCCCACTCTCTGAGTCTGAT	0.577													6	23					0	0	0	0	G	245849209	C	G	245849209	3	3	436	1	0	0	0	0	1	0	0	0	8346	913	32	2	2970	2	KIF26B	1	245849209	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	17558486	245849209	3401412	24	85981											
OR2M3	127062	broad.mit.edu	37	chr1	248366801	248366801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctaaaatttgtggacttatGactgccttttcctggatcct	8	16	7	10	0	0	1	0	1	0	0	2	3	2	3	4	2	1	0	4	2	3	5			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:248366801G>C	ENST00000456743.1	+	1	470	c.432G>C	c.(430-432)atG>atC	p.M144I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGGACTTATGACTGCCTTTT	0.453													74	250					0	0	0	0	C	248366801	G	C	248366801	3	2	436	1	0	0	0	0	1	0	0	0	11082	1290	45	2	434	2	OR2M3	1	248366801	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	2517592	248366801	883820	25	85982											
OR2T12	127064	broad.mit.edu	37	chr1	248458870	248458870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaatctggggtagtatttCtcatctccataatttcccct	10	16	5	10	0	3	0	1	0	3	0	6	0	4	0	3	2	0	2	3	2	5	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:248458870C>T	ENST00000317996.1	-	1	10	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGTAGTATTTCTCATCTCCAT	0.443													19	116					0	0	0	0	T	248458870	C	T	248458870	3	4	436	1	0	0	0	0	1	0	0	0	11090	913	32	2	954	2	OR2T12	1	248458870	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	92069	248458870	791751	26	85983											
FAM161A	84140	broad.mit.edu	37	chr2	62067397	62067397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttcttttttcttctgttCtcttatcatcatttgaaaag	7	22	3	9	0	7	1	2	1	5	0	8	1	7	1	0	0	0	1	0	0	3	8			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:62067397C>T	ENST00000404929.1	-	3	753	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	FAM161A_ENST00000405894.3_Missense_Mutation_p.E248K	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	248					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTCTGTTCTCTTATCATC	0.368													24	64					0	0	0	0	T	62067397	C	T	62067397	3	4	436	1	0	0	0	0	1	0	0	0	5513	922	32	2	1256	2	FAM161A	2	62067397	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		62067397	181131976	27	85984											
DYSF	8291	broad.mit.edu	37	chr2	71840496	71840496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcagtcctggggaagacGtgctcatcgacattgatgac	10	10	11	10	2	2	3	2	2	0	1	4	5	3	4	1	2	2	1	1	2	2	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:71840496G>A	ENST00000258104.3	+	40	4643	c.4366G>A	c.(4366-4368)Gtg>Atg	p.V1456M	DYSF_ENST00000429174.2_Missense_Mutation_p.V1456M|DYSF_ENST00000410020.3_Missense_Mutation_p.V1474M|DYSF_ENST00000410041.1_Missense_Mutation_p.V1474M|DYSF_ENST00000409366.1_Missense_Mutation_p.V1457M|DYSF_ENST00000409582.3_Missense_Mutation_p.V1473M|DYSF_ENST00000394120.2_Missense_Mutation_p.V1457M|DYSF_ENST00000413539.2_Missense_Mutation_p.V1487M|DYSF_ENST00000409744.1_Missense_Mutation_p.V1443M|DYSF_ENST00000409762.1_Missense_Mutation_p.V1473M|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.V1488M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1456						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGGGAAGACGTGCTCATCGA	0.612													9	10					0	0	0	0	A	71840496	G	A	71840496	3	1	436	1	0	0	0	0	1	0	0	0	4895	1145	40	1	4716	1	DYSF	2	71840496	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	9773099	71840496	171358877	28	85985											
MFSD9	84804	broad.mit.edu	37	chr2	103340312	103340312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaagcggccgttccttctCtggaaccacatcagaaagta	12	9	8	12	2	2	1	1	0	1	1	4	2	3	2	3	2	3	2	3	2	5	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:103340312C>G	ENST00000258436.5	-	5	527	c.484G>C	c.(484-486)Gag>Cag	p.E162Q		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	162					transmembrane transport	integral to membrane|plasma membrane	transporter activity	p.E162K(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGTTCCTTCTCTGGAACCACA	0.498													23	63					0	0	0	0	G	103340312	C	G	103340312	3	3	436	1	0	0	0	0	1	0	0	0	9608	922	32	2	948	2	MFSD9	2	103340312	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	31499816	103340312	139859061	29	85986											
RANBP2	5903	broad.mit.edu	37	chr2	109367852	109367852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatttgccccatgaaacctCaaggcttgaaacaaatgcac	14	9	6	12	0	2	2	2	2	0	0	2	2	2	2	3	1	4	2	3	1	4	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:109367852C>T	ENST00000283195.6	+	10	1532	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	469					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.S469*(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						CATGAAACCTCAAGGCTTGAA	0.338													11	229					0	0	0	0	T	109367852	C	T	109367852	3	4	436	1	0	0	0	0	1	0	0	0	13110	838	29	2	1444	2	RANBP2	2	109367852	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	6027540	109367852	133831521	30	85987											
BBS5	129880	broad.mit.edu	37	chr2	170349481	170349481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccacaagaacatgtatatGataaaataaatggagtttgg	17	11	9	4	0	0	2	0	1	0	1	0	3	0	3	1	2	2	2	1	2	8	5			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:170349481G>A	ENST00000295240.3	+	6	860	c.484G>A	c.(484-486)Gat>Aat	p.D162N	BBS5_ENST00000392663.2_Missense_Mutation_p.D162N|BBS5_ENST00000554017.1_Missense_Mutation_p.D162N|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D162N	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACATGTATATGATAAAATAAA	0.328									Bardet-Biedl syndrome				24	61					0	0	0	0	A	170349481	G	A	170349481	3	1	436	1	0	0	0	0	1	0	0	0	1344	1290	45	2	506	2	BBS5	2	170349481	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	60981629	170349481	72849892	31	85988											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279495	217279495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgacaaaaggctctggcccGcagagctgagaagttattgg	11	8	13	9	2	1	2	0	1	1	2	2	4	1	2	1	3	1	4	1	3	4	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:217279495G>A	ENST00000357276.4	+	3	398	c.68G>A	c.(67-69)cGc>cAc	p.R23H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R23H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	23					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GCTCTGGCCCGCAGAGCTGAG	0.493									Schimke Immuno-Osseous Dysplasia				4	120					0	0	0	0	A	217279495	G	A	217279495	3	1	436	1	0	0	0	0	1	0	0	0	14861	1087	38	1	70	1	SMARCAL1	2	217279495	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	46930014	217279495	25919878	32	85989											
ANKZF1	55139	broad.mit.edu	37	chr2	220098519	220098519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttgcgtgctccccgctCtggccggtctttgttctttg	1	16	11	13	3	3	0	0	0	3	0	4	0	4	0	3	2	2	4	3	2	0	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:220098519C>T	ENST00000323348.5	+	8	1076	c.902C>T	c.(901-903)tCt>tTt	p.S301F	ANKZF1_ENST00000409849.1_Missense_Mutation_p.S91F|ANKZF1_ENST00000410034.3_Missense_Mutation_p.S301F	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	301						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCCCGCTCTGGCCGGTCT	0.602													42	84					0	0	0	0	T	220098519	C	T	220098519	3	4	436	1	0	0	0	0	1	0	0	0	692	913	32	2	928	2	ANKZF1	2	220098519	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	2819024	220098519	23100854	33	85990											
GPC1	2817	broad.mit.edu	37	chr2	241404610	241404610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgatgaccgctgctggaaCgggatggccagaggccggta	9	6	17	9	3	0	3	0	2	0	1	0	5	0	5	3	5	2	3	3	5	2	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:241404610C>T	ENST00000264039.2	+	7	1499	c.1251C>T	c.(1249-1251)aaC>aaT	p.N417N		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	417					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCTGCTGGAACGGGATGGCCA	0.667													10	24					0	0	0	0	T	241404610	C	T	241404610	2	4	436	1	0	0	0	0	0	0	0	1	6646	535	19	1		1	GPC1	2	241404610	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	21306091	241404610	1794763	34	85991											
ANKMY1	51281	broad.mit.edu	37	chr2	241492400	241492400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggtaaaatgtgcccgtGaaactggagccatctggcca	11	8	12	10	1	1	2	0	2	1	0	1	3	1	3	3	3	3	1	3	3	3	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:241492400G>A	ENST00000391987.1	-	4	510	c.144C>T	c.(142-144)ttC>ttT	p.F48F	ANKMY1_ENST00000406958.1_Silent_p.F137F|ANKMY1_ENST00000405002.1_Silent_p.F48F|ANKMY1_ENST00000272972.3_Silent_p.F48F|ANKMY1_ENST00000403283.1_Silent_p.F216F|ANKMY1_ENST00000536462.1_Silent_p.F90F|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373318.2_Silent_p.F137F|ANKMY1_ENST00000373320.4_Silent_p.F48F|ANKMY1_ENST00000361678.4_Silent_p.F137F|ANKMY1_ENST00000401804.1_Silent_p.F137F|ANKMY1_ENST00000405523.3_Silent_p.F137F			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	48							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ATGTGCCCGTGAAACTGGAGC	0.552													16	32					0	0	0	0	A	241492400	G	A	241492400	2	1	436	1	0	0	0	0	0	0	0	1	634	1281	45	2		2	ANKMY1	2	241492400	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	87790	241492400	1706973	35	85992											
STAB1	23166	broad.mit.edu	37	chr3	52548442	52548442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctccatggaaaccctgcGgaagggtggacaccgcaact	10	6	11	14	2	1	0	0	0	1	0	2	3	1	3	4	4	3	1	4	4	3	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr3:52548442G>A	ENST00000321725.6	+	34	3684	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1203	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GAAACCCTGCGGAAGGGTGGA	0.617													5	56					0	0	0	0	A	52548442	G	A	52548442	3	1	436	1	0	0	0	0	1	0	0	0	15327	1116	39	1	3742	1	STAB1	3	52548442	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		52548442	145473988	36	85993											
GTF2E1	2960	broad.mit.edu	37	chr3	120469577	120469577	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttgatcggaagcaacttCgatcagttttgaataattta	13	15	8	5	2	1	2	1	2	0	0	3	4	1	3	0	1	2	3	0	1	5	7	rs139408677	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr3:120469577C>T	ENST00000283875.5	+	2	271	c.178C>T	c.(178-180)Cga>Tga	p.R60*		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	60	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	p.R60*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAAGCAACTTCGATCAGTTTT	0.448													5	62					0	0	0	0	T	120469577	C	T	120469577	4	4	436	1	0	0	0	0	0	1	0	0	6906	876	31	1	180	1	GTF2E1	3	120469577	Nonsense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	67921135	120469577	77552853	37	85994											
FBXO40	51725	broad.mit.edu	37	chr3	121340544	121340544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacctgcaggtgtgccccGccagcgtggtctgctgctcc	4	8	13	16	2	1	0	0	0	1	0	2	0	2	0	5	2	6	4	5	2	0	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr3:121340544G>A	ENST00000338040.4	+	3	682	c.268G>A	c.(268-270)Gcc>Acc	p.A90T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	90					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGTGTGCCCCGCCAGCGTGGT	0.577													27	54					0	0	0	0	A	121340544	G	A	121340544	3	1	436	1	0	0	0	0	1	0	0	0	5794	1087	38	1	274	1	FBXO40	3	121340544	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	870967	121340544	76681886	38	85995											
AGTR1	185	broad.mit.edu	37	chr3	148459829	148459829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaacaaaaatgagcaCgctttcctaccgcccctcag	11	9	5	16	2	2	1	2	1	0	0	3	1	3	1	5	0	3	2	5	0	4	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr3:148459829C>T	ENST00000542281.1	+	4	1453	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	AGTR1_ENST00000461609.1_Missense_Mutation_p.T336M|AGTR1_ENST00000349243.3_Missense_Mutation_p.T336M|AGTR1_ENST00000474935.1_Missense_Mutation_p.T336M|AGTR1_ENST00000402260.1_Missense_Mutation_p.T336M|AGTR1_ENST00000497524.1_Missense_Mutation_p.T336M|AGTR1_ENST00000418473.2_Missense_Mutation_p.T336M|AGTR1_ENST00000404754.2_Missense_Mutation_p.T336M|AGTR1_ENST00000475347.1_Missense_Mutation_p.T336M	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	336			T -> P (in dbSNP:rs1801021).		calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.T336>?(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAATGAGCACGCTTTCCTAC	0.408													32	32					0	0	0	0	T	148459829	C	T	148459829	3	4	436	1	0	0	0	0	1	0	0	0	401	536	19	1	1009	1	AGTR1	3	148459829	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	27119285	148459829	49562601	39	85996											
ARAP2	116984	broad.mit.edu	37	chr4	36230658	36230658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcagtggggaagtcgcGtttaggaggagacagcttat	9	10	15	7	2	1	1	0	0	1	1	2	4	1	3	0	4	2	3	0	4	3	3	rs145147471	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:36230658G>A	ENST00000303965.4	-	2	940	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	151					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GGGAAGTCGCGTTTAGGAGGA	0.393													24	26					0	0	0	0	A	36230658	G	A	36230658	3	1	436	1	0	0	0	0	1	0	0	0	841	1145	40	1	4791	1	ARAP2	4	36230658	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		36230658	154923618	40	85997											
TLR1	7096	broad.mit.edu	37	chr4	38799112	38799112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgaagatcaagtaccttGatcctgggaggtaaacatct	12	11	10	8	0	2	3	1	2	1	1	3	4	3	4	2	2	2	2	2	2	5	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:38799112G>A	ENST00000308979.2	-	4	1614	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	TLR1_ENST00000502213.2_Silent_p.I447I	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	447					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CAAGTACCTTGATCCTGGGAG	0.318													32	50					0	0	0	0	A	38799112	G	A	38799112	2	1	436	1	0	0	0	0	0	0	0	1	16043	1280	45	2		2	TLR1	4	38799112	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	2568454	38799112	152355164	41	85998											
FIP1L1	81608	broad.mit.edu	37	chr4	54257190	54257190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaggtgctgatctttctGattattttaattatgggttt	7	22	8	4	0	2	2	0	2	2	0	2	2	2	2	0	2	1	2	0	2	4	8			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:54257190G>A	ENST00000507166.1	+	8	520	c.520G>A	c.(520-522)Gat>Aat	p.D174N	FIP1L1_ENST00000358575.5_Missense_Mutation_p.D159N|FIP1L1_ENST00000337488.6_Missense_Mutation_p.D174N|FIP1L1_ENST00000306932.6_Missense_Mutation_p.D159N|FIP1L1_ENST00000507922.1_Missense_Mutation_p.D159N			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	174	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGATCTTTCTGATTATTTTAA	0.294			T	PDGFRA	idiopathic hypereosinophilic syndrome								13	43					0	0	0	0	A	54257190	G	A	54257190	3	1	436	1	0	0	0	0	1	0	0	0	5941	1290	45	2	550	2	FIP1L1	4	54257190	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	15458078	54257190	136897086	42	85999											
FRAS1	80144	broad.mit.edu	37	chr4	79366851	79366851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttcagaaattcacagcatCaatatcaccattgaggtaaa	16	10	6	9	1	4	2	4	1	0	1	4	2	4	2	1	1	1	3	1	1	5	5			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:79366851C>G	ENST00000264895.6	+	42	6281	c.5841C>G	c.(5839-5841)atC>atG	p.I1947M	FRAS1_ENST00000325942.6_Missense_Mutation_p.I1947M	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1946					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTCACAGCATCAATATCACCA	0.373													11	201					0	0	0	0	G	79366851	C	G	79366851	3	3	436	1	0	0	0	0	1	0	0	0	6089	816	29	2	6007	2	FRAS1	4	79366851	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	25109661	79366851	111787425	43	86000											
NDST3	9348	broad.mit.edu	37	chr4	119148066	119148066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcgatgacaaacgccacaGagacatttggtctaaagaaa	16	8	9	8	2	1	3	0	1	1	2	1	5	1	3	1	1	2	0	1	1	4	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:119148066G>A	ENST00000296499.5	+	8	2151	c.1748G>A	c.(1747-1749)aGa>aAa	p.R583K	NDST3_ENST00000433996.2_Missense_Mutation_p.R502K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	583	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAACGCCACAGAGACATTTGG	0.368													22	45					0	0	0	0	A	119148066	G	A	119148066	3	1	436	1	0	0	0	0	1	0	0	0	10327	942	33	2	1774	2	NDST3	4	119148066	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	39781215	119148066	72006210	44	86001											
SLC27A6	28965	broad.mit.edu	37	chr5	128324312	128324312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctaccaaaagcagctgtGattagtcagctgcaggtttt	10	12	11	8	0	2	1	1	1	1	0	2	1	2	1	1	2	5	5	1	2	4	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:128324312G>A	ENST00000262462.4	+	3	1715	c.705G>A	c.(703-705)gtG>gtA	p.V235V	SLC27A6_ENST00000506176.1_Silent_p.V235V|SLC27A6_ENST00000395266.1_Silent_p.V235V			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	235					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAGCAGCTGTGATTAGTCAGC	0.363													29	55					0	0	0	0	A	128324312	G	A	128324312	2	1	436	1	0	0	0	0	0	0	0	1	14618	1277	45	2		2	SLC27A6	5	128324312	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		128324312	52590948	45	86002											
FNIP1	96459	broad.mit.edu	37	chr5	130987593	130987593	+	Missense_Mutation	SNP	C	C	T																															ttcctttcccaatttattatCtgtcactcgtctctggctac																										TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:130987593C>T	ENST00000307968.7	-	15	3123	c.3124G>A	c.(3124-3126)Gat>Aat	p.D1042N	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.D1070N|FNIP1_ENST00000307954.8_Missense_Mutation_p.D1025N	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AATTTATTATCTGTCACTCGT	0.398													12	27					0	0	0	0	T	130987593	C	T	130987593	3	4	436	1	0	0	0	0	1	0	0	0	6020	913	32	2	304	2	FNIP1	5	130987593	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	2663281	130987593	49927667	46	86003	1077	2									
FNIP1	96459	broad.mit.edu	37	chr5	130987601	130987601	+	Missense_Mutation	SNP	C	C	T																															ccaatttattatctgtcactCgtctctggctactggccact																								rs138667282		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:130987601C>T	ENST00000307968.7	-	15	3115	c.3116G>A	c.(3115-3117)cGa>cAa	p.R1039Q	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.R1067Q|FNIP1_ENST00000307954.8_Missense_Mutation_p.R1022Q	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ATCTGTCACTCGTCTCTGGCT	0.403													14	28					0	0	0	0	T	130987601	C	T	130987601	3	4	436	1	0	0	0	0	1	0	0	0	6020	884	31	1	312	1	FNIP1	5	130987601	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	8	130987601	49927659	47	86004	1077	2									
PCDHA5	56143	broad.mit.edu	37	chr5	140203272	140203272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacaacacgctctctggatGagaccgaagcaccgcgccac	11	4	10	16	4	1	1	0	1	1	1	2	4	1	2	3	1	2	3	3	1	2	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:140203272G>A	ENST00000529859.1	+	1	1912	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E638K|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E638K	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCTGGATGAGACCGAAGC	0.637													18	135					0	0	0	0	A	140203272	G	A	140203272	3	1	436	1	0	0	0	0	1	0	0	0	11598	1291	45	2	1914	2	PCDHA5	5	140203272	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	9215671	140203272	40711988	48	86005											
PCDHB8	56128	broad.mit.edu	37	chr5	140558805	140558805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccttcctcctgaaatcttCtgtggggaacttttacaccc	8	13	6	14	0	2	1	0	1	2	0	4	2	4	2	4	2	2	0	4	2	3	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:140558805C>T	ENST00000239444.2	+	1	1435	c.1190C>T	c.(1189-1191)tCt>tTt	p.S397F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		397	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAAATCTTCTGTGGGGAAC	0.463													6	145					0	0	0	0	T	140558805	C	T	140558805	3	4	436	1	0	0	0	0	1	0	0	0	11619	913	32	2	1192	2	PCDHB8	5	140558805	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	355533	140558805	40356455	49	86006											
PCDHB8	56128	broad.mit.edu	37	chr5	140559795	140559795	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctcggtgggtcgctgctCagtgcctgagggcccctttc	2	10	15	14	2	1	1	1	1	0	0	4	1	1	1	4	4	2	2	4	4	0	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:140559795C>G	ENST00000239444.2	+	1	2425	c.2180C>G	c.(2179-2181)tCa>tGa	p.S727*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		727					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTGCTCAGTGCCTGAG	0.647													9	191					0	0	0	0	G	140559795	C	G	140559795	4	3	436	1	0	0	0	0	0	1	0	0	11619	838	29	2	2182	2	PCDHB8	5	140559795	Nonsense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	990	140559795	40355465	50	86007											
PCDHB10	56126	broad.mit.edu	37	chr5	140573366	140573366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgctggacagagagatcaGagccgagtacaacatcacta	14	5	11	11	3	2	3	2	0	0	3	2	6	2	4	1	1	3	2	1	1	3	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:140573366G>C	ENST00000239446.4	+	1	1425	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		414	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGATCAGAGCCGAGTAC	0.473													5	159					0	0	0	0	C	140573366	G	C	140573366	3	2	436	1	0	0	0	0	1	0	0	0	11606	942	33	2	1243	2	PCDHB10	5	140573366	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	13571	140573366	40341894	51	86008											
RBM27	54439	broad.mit.edu	37	chr5	145647224	145647224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttttagatattttcaactCcaggccatccaaaaatgatt	13	16	4	8	0	1	2	1	1	0	1	3	2	3	2	3	1	1	0	3	1	5	7			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:145647224C>G	ENST00000265271.5	+	15	2510	c.2344C>G	c.(2344-2346)Cca>Gca	p.P782A	RBM27_ENST00000506502.1_Missense_Mutation_p.P727A	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	782					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.P782A(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTTCAACTCCAGGCCATCC	0.289													15	54					0	0	0	0	G	145647224	C	G	145647224	3	3	436	1	0	0	0	0	1	0	0	0	13209	855	30	2	2402	2	RBM27	5	145647224	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	5073858	145647224	35268036	52	86009											
GEMIN5	25929	broad.mit.edu	37	chr5	154268973	154268973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtggctcatttttttcttCtttactagtgaaaaaaataa	14	17	5	5	0	3	1	1	1	2	0	3	1	3	1	0	1	1	1	0	1	7	8			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:154268973C>T	ENST00000285873.7	-	27	4342	c.4267G>A	c.(4267-4269)Gaa>Aaa	p.E1423K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1423					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTTTTTCTTCTTTACTAGTG	0.348													16	43					0	0	0	0	T	154268973	C	T	154268973	3	4	436	1	0	0	0	0	1	0	0	0	6382	922	32	2	267	2	GEMIN5	5	154268973	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	8621749	154268973	26646287	53	86010											
ADAM19	8728	broad.mit.edu	37	chr5	156918889	156918889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccttcagtttcaaagaagGaggtgttcctgcactgcccc	9	10	10	12	0	2	1	2	0	0	1	3	2	3	2	4	2	3	3	4	2	2	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:156918889G>A	ENST00000257527.4	-	17	2018	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	ADAM19_ENST00000517905.1_Missense_Mutation_p.S647F|ADAM19_ENST00000394020.1_Missense_Mutation_p.S649F|ADAM19_ENST00000430702.2_Missense_Mutation_p.S380F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	647	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAAGAAGGAGGTGTTCCT	0.547													17	37					0	0	0	0	A	156918889	G	A	156918889	3	1	436	1	0	0	0	0	1	0	0	0	240	1174	41	2	844	2	ADAM19	5	156918889	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	2649916	156918889	23996371	54	86011											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552067	178552067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcattgcagtgcttggcGtgcacggagcgggtggtgtt	4	11	18	8	4	1	0	1	0	0	0	1	1	1	1	0	4	4	4	0	4	0	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:178552067G>A	ENST00000251582.7	-	19	2966	c.2865C>T	c.(2863-2865)caC>caT	p.H955H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGTGCTTGGCGTGCACGGAGC	0.692													6	217					0	0	0	0	A	178552067	G	A	178552067	2	1	436	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178552067	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	21633178	178552067	2363193	55	86012											
CYB5R4	51167	broad.mit.edu	37	chr6	84569524	84569524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgaacgtcccttcccagtCtttcccggcccccaggtcgc	4	9	9	19	3	1	1	0	1	1	0	5	1	4	1	5	2	1	1	5	2	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr6:84569524C>T	ENST00000369681.4	+	1	163	c.23C>T	c.(22-24)tCt>tTt	p.S8F	CYB5R4_ENST00000369679.4_5'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	8					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CCTTCCCAGTCTTTCCCGGCC	0.701											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	0	0	T	84569524	C	T	84569524	3	4	436	1	0	0	0	0	1	0	0	0	4161	913	32	2	25	2	CYB5R4	6	84569524	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		84569524	86545543	56	86013											
AKAP7	9465	broad.mit.edu	37	chr6	131571736	131571736	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttgctgctttcctttctCaagagatgaaggaaaaatca	12	13	8	8	0	2	2	2	1	1	1	4	4	3	3	1	1	2	3	1	1	4	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr6:131571736C>G	ENST00000342266.4	+	1	438	c.29C>G	c.(28-30)tCa>tGa	p.S10*	AKAP7_ENST00000368123.4_Intron|AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000431975.2_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000474850.2_Nonsense_Mutation_p.S10*	NM_004842.3	NP_004833.1	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	10	Required for membrane localization.				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TTTCCTTTCTCAAGAGATGAA	0.448													6	60					0	0	0	0	G	131571736	C	G	131571736	4	3	436	1	0	0	0	0	0	1	0	0	456	838	29	2	839	2	AKAP7	6	131571736	Nonsense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	47002212	131571736	39543331	57	86014											
CCDC129	223075	broad.mit.edu	37	chr7	31682734	31682734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacagttttgtgaggcctGagggagctggcaaagtgcaa	11	8	16	6	0	0	2	0	2	0	0	0	4	0	4	1	4	2	4	1	4	2	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:31682734G>C	ENST00000319386.3	+	11	2299	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	CCDC129_ENST00000451887.2_Missense_Mutation_p.E610Q|CCDC129_ENST00000409210.1_Missense_Mutation_p.E492Q|CCDC129_ENST00000407970.3_Missense_Mutation_p.E584Q			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	584										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGTGAGGCCTGAGGGAGCTGG	0.493													7	166					0	0	0	0	C	31682734	G	C	31682734	3	2	436	1	0	0	0	0	1	0	0	0	2789	1291	45	2	1788	2	CCDC129	7	31682734	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		31682734	127455929	58	86015											
ZNF273	10793	broad.mit.edu	37	chr7	64389280	64389280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcaaagcttttaaccGgtcctcaaaccttactcgac	11	11	7	12	2	1	0	1	0	0	0	3	1	2	0	3	2	4	2	3	2	4	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:64389280G>A	ENST00000476120.1	+	4	1645	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.R460Q	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GCTTTTAACCGGTCCTCAAAC	0.388													4	91					0	0	0	0	A	64389280	G	A	64389280	3	1	436	1	0	0	0	0	1	0	0	0	17903	1116	39	1	1588	1	ZNF273	7	64389280	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	32706546	64389280	94749383	59	86016											
UPK3B	80761	broad.mit.edu	37	chr7	76140988	76140988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctccaggggcttcCagaacccggagacactggct	8	6	12	15	1	0	2	0	0	0	2	2	3	2	2	4	4	3	3	4	4	1	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:76140988C>G	ENST00000419923.2	+	2	640	c.415C>G	c.(415-417)Cag>Gag	p.Q139E	UPK3B_ENST00000394849.1_Missense_Mutation_p.Q84E|UPK3B_ENST00000334348.3_Missense_Mutation_p.Q84E|UPK3B_ENST00000443097.2_Missense_Mutation_p.Q84E|UPK3B_ENST00000257632.5_Missense_Mutation_p.Q139E|UPK3B_ENST00000448265.3_Missense_Mutation_p.Q139E			Q9BT76	UPK3B_HUMAN	uroplakin 3B	139					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CAGGGGCTTCCAGAACCCGGA	0.622													4	9					0	0	0	0	G	76140988	C	G	76140988	3	3	436	1	0	0	0	0	1	0	0	0	17107	595	21	4	421	4	UPK3B	7	76140988	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	11751708	76140988	82997675	60	86017											
CYP51A1	1595	broad.mit.edu	37	chr7	91753166	91753166	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgagctctgtccctgcGtctgtaattaaaagataaag	12	11	9	9	2	2	2	0	1	2	1	3	3	3	2	2	0	2	2	2	0	5	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:91753166G>A	ENST00000003100.8	-	6	937	c.770_splice	c.e6-1	p.R258_splice	CYP51A1_ENST00000450723.1_Splice_Site_p.R153_splice|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	252					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTGTCCCTGCGTCTGTAATTA	0.343													12	24					0	0	0	0	A	91753166	G	A	91753166	5	1	436	1	0	0	0	0	0	0	1	0	4227	1159	40	1	777	1	CYP51A1	7	91753166	Splice_Site	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	15612178	91753166	67385497	61	86018											
NUP205	23165	broad.mit.edu	37	chr7	135272732	135272732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcatcagcggccccctCaacgccaggtgagtctttag	7	9	11	14	2	4	1	3	1	1	0	4	1	4	1	3	3	2	1	3	3	2	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:135272732C>G	ENST00000285968.6	+	10	1491	c.1465C>G	c.(1465-1467)Caa>Gaa	p.Q489E	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	489					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCGGCCCCCTCAACGCCAGGT	0.453													13	26					0	0	0	0	G	135272732	C	G	135272732	3	3	436	1	0	0	0	0	1	0	0	0	10830	827	29	2	1503	2	NUP205	7	135272732	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	43519566	135272732	23865931	62	86019											
CSMD1	64478	broad.mit.edu	37	chr8	2855702	2855702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccagggtgaccacatgtGatggctgtagagagacaggt	10	10	14	7	0	0	4	0	2	0	2	1	5	1	4	2	3	0	2	2	3	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr8:2855702G>A	ENST00000602557.1	-	55	8766	c.8211C>T	c.(8209-8211)atC>atT	p.I2737I	CSMD1_ENST00000520002.1_Silent_p.I2737I|CSMD1_ENST00000400186.3_Silent_p.I2679I|CSMD1_ENST00000602723.1_Silent_p.I2679I|CSMD1_ENST00000542608.1_Silent_p.I2678I|CSMD1_ENST00000537824.1_Silent_p.I2736I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2737	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACCACATGTGATGGCTGTAG	0.453													7	66					0	0	0	0	A	2855702	G	A	2855702	2	1	436	1	0	0	0	0	0	0	0	1	3976	1280	45	2		2	CSMD1	8	2855702	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		2855702	143508320	63	86020											
SCRIB	23513	broad.mit.edu	37	chr8	144885676	144885676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagcaggctctgctggttCacctccaacagccgcaaacc	9	6	8	18	1	2	0	1	0	1	0	3	0	3	0	5	2	5	5	5	2	2	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr8:144885676C>T	ENST00000356994.2	-	24	3486	c.3480G>A	c.(3478-3480)gtG>gtA	p.V1160V	SCRIB_ENST00000320476.3_Silent_p.V1160V|SCRIB_ENST00000377533.3_Silent_p.V1079V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1160	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCTGGTTCACCTCCAACA	0.687													13	13					0	0	0	0	T	144885676	C	T	144885676	2	4	436	1	0	0	0	0	0	0	0	1	14024	813	29	2		2	SCRIB	8	144885676	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	142029974	144885676	1478346	64	86021											
KCNV2	169522	broad.mit.edu	37	chr9	2718734	2718734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacctgaggcgcttcgcgcGcagcgccctcaacctggtgg	5	6	14	16	6	1	1	1	1	0	0	2	2	1	1	3	3	2	2	3	3	1	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:2718734G>A	ENST00000382082.3	+	1	1233	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	332						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGCTTCGCGCGCAGCGCCCTC	0.677													41	62					0	0	0	0	A	2718734	G	A	2718734	3	1	436	1	0	0	0	0	1	0	0	0	8148	1087	38	1	997	1	KCNV2	9	2718734	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		2718734	138494697	65	86022											
KIAA2026	158358	broad.mit.edu	37	chr9	5929142	5929142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattcttttacagcttgcctCcgatgataccattttcccta	9	16	4	12	1	1	1	0	1	1	0	3	2	3	1	4	0	4	1	4	0	4	8			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:5929142C>T	ENST00000399933.3	-	6	2399	c.2400G>A	c.(2398-2400)cgG>cgA	p.R800R	KIAA2026_ENST00000381461.2_Silent_p.R770R	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	800										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAGCTTGCCTCCGATGATACC	0.299													10	40					0	0	0	0	T	5929142	C	T	5929142	2	4	436	1	0	0	0	0	0	0	0	1	8321	842	30	2		2	KIAA2026	9	5929142	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	3210408	5929142	135284289	66	86023											
TAF1L	138474	broad.mit.edu	37	chr9	32635509	32635509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatcttcctcgctgtcCgagtctgacatgatggcggc	7	11	12	11	3	2	3	0	3	2	0	5	5	4	3	2	2	0	1	2	2	1	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:32635509C>T	ENST00000242310.4	-	1	158	c.69G>A	c.(67-69)tcG>tcA	p.S23S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	23					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTCGCTGTCCGAGTCTGACA	0.567													4	74					0	0	0	0	T	32635509	C	T	32635509	2	4	436	1	0	0	0	0	0	0	0	1	15614	639	23	1		1	TAF1L	9	32635509	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	26706367	32635509	108577922	67	86024											
AGTPBP1	23287	broad.mit.edu	37	chr9	88270061	88270061	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctgtgatcctaccttCaggaggtaagctgtagagct	9	11	11	10	0	1	3	1	2	0	1	2	4	2	4	3	2	3	4	3	2	3	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:88270061C>A	ENST00000357081.3	-	11	1228	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.E374*|AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.E200*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.E322*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	362					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATCCTACCTTCAGGAGGTAAG	0.423													6	26					8.12818e-05	8.16581e-05	1	0	A	88270061	C	A	88270061	4	1	436	1	0	0	0	0	0	1	0	0	400	835	29	2	2660	2	AGTPBP1	9	88270061	Nonsense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	55634552	88270061	52943370	68	86025											
TMOD1	7111	broad.mit.edu	37	chr9	100308588	100308588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaaggagtttaaggaccGagaagatctggtcccctaca	14	7	11	9	1	1	2	0	0	1	2	2	5	2	4	3	3	2	2	3	3	4	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:100308588G>A	ENST00000395211.2	+	3	378	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	TMOD1_ENST00000259365.3_Missense_Mutation_p.R81Q	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	81	Tropomyosin-binding (Potential).				muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TTTAAGGACCGAGAAGATCTG	0.502													11	126					0	0	0	0	A	100308588	G	A	100308588	3	1	436	1	0	0	0	0	1	0	0	0	16327	1058	37	1	248	1	TMOD1	9	100308588	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	12038527	100308588	40904843	69	86026											
ASTN2	23245	broad.mit.edu	37	chr9	119976943	119976943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcttctgggggatgcggcGacgcttctgccaacgtcgct	4	10	14	13	5	3	0	0	0	3	0	4	2	3	1	1	3	3	3	1	3	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:119976943G>A	ENST00000313400.4	-	3	809	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	ASTN2_ENST00000373996.3_Missense_Mutation_p.R237C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R237C			O75129	ASTN2_HUMAN	astrotactin 2	237						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGATGCGGCGACGCTTCTGC	0.637													29	34					0	0	0	0	A	119976943	G	A	119976943	3	1	436	1	0	0	0	0	1	0	0	0	1069	1058	37	1	3469	1	ASTN2	9	119976943	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	19668355	119976943	21236488	70	86027											
PHF19	26147	broad.mit.edu	37	chr9	123631545	123631545	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcctcgggctggtaggAcagcaccatcttcacggcct	7	8	12	14	2	2	0	1	0	1	0	4	2	3	1	3	4	2	4	3	4	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:123631545A>C	ENST00000373896.3	-	6	781	c.529T>G	c.(529-531)Tcc>Gcc	p.S177A		NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTGGTAGGACAGCACCATC	0.672													8	12					0	0	0	0	C	123631545	A	C	123631545	3	2	436	1	0	0	0	0	1	0	0	0	11901	275	10	5	1253	5	PHF19	9	123631545	Missense_Mutation	SNP	A	TCGA-IQ-A61I-01A-11D-A30E-08	3654602	123631545	17581886	71	86028											
SPTAN1	6709	broad.mit.edu	37	chr9	131339461	131339461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggagcagttaatggcctCtgatgattttggccgagacc	11	10	12	8	1	1	3	0	2	1	1	1	5	1	4	3	3	1	2	3	3	2	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:131339461C>G	ENST00000372739.3	+	7	949	c.839C>G	c.(838-840)tCt>tGt	p.S280C	SPTAN1_ENST00000372731.4_Missense_Mutation_p.S280C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.S280C	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	280					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTAATGGCCTCTGATGATTTT	0.483													50	129					0	0	0	0	G	131339461	C	G	131339461	3	3	436	1	0	0	0	0	1	0	0	0	15207	913	32	2	861	2	SPTAN1	9	131339461	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	7707916	131339461	9873970	72	86029											
SPTAN1	6709	broad.mit.edu	37	chr9	131339679	131339679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgcaacagtcccaccctCtgagtgcaacacagattcaa	12	7	7	15	0	2	2	1	1	1	1	3	2	3	2	3	0	4	2	3	0	3	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:131339679C>T	ENST00000372739.3	+	8	1089	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	SPTAN1_ENST00000372731.4_Silent_p.L327L|SPTAN1_ENST00000358161.5_Silent_p.L327L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	327					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTCCCACCCTCTGAGTGCAAC	0.507													33	57					0	0	0	0	T	131339679	C	T	131339679	2	4	436	1	0	0	0	0	0	0	0	1	15207	912	32	2		2	SPTAN1	9	131339679	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	218	131339679	9873752	73	86030											
TRAF2	7186	broad.mit.edu	37	chr9	139820216	139820216	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtgacttcatcctcttttCagaggccagtcaacgacatg	10	11	8	12	2	4	2	3	1	1	1	5	3	5	2	2	1	1	0	2	1	1	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:139820216C>T	ENST00000359662.3	+	11	1570	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	TRAF2_ENST00000536468.1_Nonsense_Mutation_p.Q457*|TRAF2_ENST00000247668.2_Nonsense_Mutation_p.Q457*			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	457					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|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|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ATCCTCTTTTCAGAGGCCAGT	0.572													20	48					0	0	0	0	T	139820216	C	T	139820216	4	4	436	1	0	0	0	0	0	1	0	0	16533	827	29	2	1407	2	TRAF2	9	139820216	Nonsense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	8480537	139820216	1393215	74	86031											
KIAA1217	56243	broad.mit.edu	37	chr10	24832954	24832954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagcaactcgccgctctCactcaagccattcgcaccgg	11	6	8	16	4	2	1	2	0	1	1	5	1	2	1	3	1	3	3	3	1	4	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:24832954C>T	ENST00000376451.2	+	14	4064	c.3804C>T	c.(3802-3804)ctC>ctT	p.L1268L	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376454.3_Silent_p.L1585L			Q5T5P2	SKT_HUMAN	KIAA1217	1585					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCGCCGCTCTCACTCAAGCCA	0.468													59	87					0	0	0	0	T	24832954	C	T	24832954	2	4	436	1	0	0	0	0	0	0	0	1	8267	813	29	2		2	KIAA1217	10	24832954	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		24832954	110701793	75	86032											
BAMBI	25805	broad.mit.edu	37	chr10	28970441	28970441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaattacagagggctgcacGatgttctctctcctcccagg	8	10	10	13	1	2	1	0	0	2	1	5	2	3	1	2	2	2	4	2	2	2	2	rs111458570		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:28970441G>A	ENST00000375533.3	+	2	887	c.331G>A	c.(331-333)Gat>Aat	p.D111N		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	111					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGGCTGCACGATGTTCTCTC	0.527													33	59					0	0	0	0	A	28970441	G	A	28970441	3	1	436	1	0	0	0	0	1	0	0	0	1310	1058	37	1	337	1	BAMBI	10	28970441	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	4137487	28970441	106564306	76	86033											
CHAT	1103	broad.mit.edu	37	chr10	50824598	50824598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcaccaagacgcccatcctgGaaaaggtcccccgtaagatg	12	6	9	14	2	1	2	1	0	0	2	3	3	3	3	5	2	0	1	5	2	4	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:50824598G>C	ENST00000395562.2	+	3	560	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	CHAT_ENST00000351556.3_5'UTR|CHAT_ENST00000455728.2_5'UTR|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Missense_Mutation_p.E113Q|CHAT_ENST00000339797.1_5'UTR|CHAT_ENST00000395559.2_5'UTR	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	113					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCCATCCTGGAAAAGGTCCC	0.562													3	17					0	0	0	0	C	50824598	G	C	50824598	3	2	436	1	0	0	0	0	1	0	0	0	3342	1175	41	2	387	2	CHAT	10	50824598	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	21854157	50824598	84710149	77	86034											
MGEA5	10724	broad.mit.edu	37	chr10	103557837	103557837	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctgttggcacaattggaGagccgagtgaacattcccat	10	10	11	10	1	0	2	0	1	0	1	2	4	2	2	3	2	2	2	3	2	2	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:103557837G>C	ENST00000361464.3	-	10	2279	c.1884C>G	c.(1882-1884)ctC>ctG	p.L628L	MGEA5_ENST00000439817.1_Silent_p.L575L|MGEA5_ENST00000357797.5_Silent_p.L575L|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Silent_p.L628L	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	628	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CACAATTGGAGAGCCGAGTGA	0.403													4	60					0	0	0	0	C	103557837	G	C	103557837	2	2	436	1	0	0	0	0	0	0	0	1	9624	929	33	2		2	MGEA5	10	103557837	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	52733239	103557837	31976910	78	86035											
CCDC147	159686	broad.mit.edu	37	chr10	106128284	106128284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggtctgtgagcagctatCccaggaaaaccaacagaagg	13	8	11	9	0	1	2	0	1	1	1	2	3	2	3	2	3	4	2	2	3	5	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:106128284C>T	ENST00000369704.3	+	6	1030	c.896C>T	c.(895-897)tCc>tTc	p.S299F	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	299										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGCAGCTATCCCAGGAAAAC	0.438													23	39					0	0	0	0	T	106128284	C	T	106128284	3	4	436	1	0	0	0	0	1	0	0	0	2806	855	30	2	918	2	CCDC147	10	106128284	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	2570447	106128284	29406463	79	86036											
NRAP	4892	broad.mit.edu	37	chr10	115409891	115409891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttgatattgttgatGgtacctcacctgttttaagg	7	20	8	6	0	2	2	1	2	1	0	2	2	2	2	2	2	1	3	2	2	3	9			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:115409891G>A	ENST00000369358.4	-	9	1037	c.793C>T	c.(793-795)Cat>Tat	p.H265Y	NRAP_ENST00000369360.3_Missense_Mutation_p.H265Y|NRAP_ENST00000360478.3_Missense_Mutation_p.H265Y|NRAP_ENST00000359988.3_Missense_Mutation_p.H265Y			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	265						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TATTGTTGATGGTACCTCACC	0.443													39	88					0	0	0	0	A	115409891	G	A	115409891	3	1	436	1	0	0	0	0	1	0	0	0	10709	1348	47	4	4535	4	NRAP	10	115409891	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	9281607	115409891	20124856	80	86037											
TOLLIP	54472	broad.mit.edu	37	chr11	1310007	1310007	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtccatggagaaggctctCtgcgggagacaagagggaga	11	6	16	8	2	1	4	0	0	1	4	4	7	2	4	1	4	1	1	1	4	2	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:1310007C>T	ENST00000527886.1	-	4	540		c.e4-1		TOLLIP_ENST00000263646.7_Splice_Site|TOLLIP_ENST00000525159.1_Splice_Site|TOLLIP_ENST00000528719.1_Splice_Site|TOLLIP_ENST00000317204.6_Splice_Site|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000542915.1_Splice_Site			Q9H0E2	TOLIP_HUMAN	toll interacting protein						cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		AGAAGGCTCTCTGCGGGAGAC	0.657													19	21					0	0	0	0	T	1310007	C	T	1310007	5	4	436	1	0	0	0	0	0	0	1	0	16444	927	32	2	470	2	TOLLIP	11	1310007	Splice_Site	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		1310007	133696509	81	86038											
OR56A1	120796	broad.mit.edu	37	chr11	6048161	6048161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaccagcagtatggtgctGaagaaaagaatgaggatgaa	18	6	12	5	0	0	5	0	3	0	2	0	6	0	6	1	2	3	3	1	2	7	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:6048161G>A	ENST00000316650.5	-	1	810	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATGGTGCTGAAGAAAAGAA	0.507													32	52					0	0	0	0	A	6048161	G	A	6048161	2	1	436	1	0	0	0	0	0	0	0	1	11204	1281	45	2		2	OR56A1	11	6048161	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	4738154	6048161	128958355	82	86039											
OR10A5	144124	broad.mit.edu	37	chr11	6867629	6867629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagggaagcataaagcctTctctacgtgctcctcacacc	12	9	7	13	1	2	0	1	0	1	0	4	1	3	1	3	1	4	2	3	1	6	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:6867629T>C	ENST00000299454.4	+	1	747	c.716T>C	c.(715-717)tTc>tCc	p.F239S	OR10A5_ENST00000379831.2_Missense_Mutation_p.F243S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATAAAGCCTTCTCTACGTGC	0.458													8	172					0	0	0	0	C	6867629	T	C	6867629	3	2	436	1	0	0	0	0	1	0	0	0	10964	1783	62	5	718	5	OR10A5	11	6867629	Missense_Mutation	SNP	T	TCGA-IQ-A61I-01A-11D-A30E-08	819468	6867629	128138887	83	86040											
EIF4G2	1982	broad.mit.edu	37	chr11	10821737	10821737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgaagacaaagtaggaaGagaggaaaatgggtgccact	16	6	14	5	0	0	3	0	1	0	2	0	6	0	5	1	3	2	2	1	3	6	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:10821737G>A	ENST00000526148.1	-	18	2529	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L673L|EIF4G2_ENST00000525681.1_Silent_p.L673L|EIF4G2_ENST00000396525.2_Silent_p.L635L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	673					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAGTAGGAAGAGAGGAAAAT	0.413													13	53					0	0	0	0	A	10821737	G	A	10821737	2	1	436	1	0	0	0	0	0	0	0	1	5075	929	33	2		2	EIF4G2	11	10821737	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	3954108	10821737	124184779	84	86041											
EIF4G2	1982	broad.mit.edu	37	chr11	10823929	10823929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacggtccctccagaaaGaagtcacttctcatcccttg	11	10	7	13	1	2	3	2	1	1	2	6	3	5	3	3	1	1	0	3	1	3	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:10823929G>T	ENST00000526148.1	-	12	1560	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	EIF4G2_ENST00000339995.5_Missense_Mutation_p.F350L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.F350L|EIF4G2_ENST00000396525.2_Missense_Mutation_p.F350L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	350					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCTCCAGAAAGAAGTCACTTC	0.433													51	100					4.25531e-23	4.54878e-23	1	0	T	10823929	G	T	10823929	3	4	436	1	0	0	0	0	1	0	0	0	5075	933	33	2	1717	2	EIF4G2	11	10823929	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	2192	10823929	124182587	85	86042											
QSER1	79832	broad.mit.edu	37	chr11	32956885	32956885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttatcttcattttcttctGatgaagatgatcctggatat	10	19	6	6	0	4	4	1	3	3	1	5	5	5	5	1	1	0	0	1	1	3	7			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:32956885G>A	ENST00000399302.2	+	4	4029	c.3694G>A	c.(3694-3696)Gat>Aat	p.D1232N	QSER1_ENST00000527788.1_Missense_Mutation_p.D993N	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1232										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATTTTCTTCTGATGAAGATGA	0.353													10	167					0	0	0	0	A	32956885	G	A	32956885	3	1	436	1	0	0	0	0	1	0	0	0	12964	1290	45	2	3700	2	QSER1	11	32956885	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	22132956	32956885	102049631	86	86043											
OR4C13	283092	broad.mit.edu	37	chr11	49974168	49974168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttttcctggcctatctctCctttattgatgcctgctatt	4	20	5	12	0	1	1	0	1	1	0	4	1	3	1	4	1	2	1	4	1	3	8			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:49974168C>A	ENST00000555099.1	+	1	226	c.194C>A	c.(193-195)tCc>tAc	p.S65Y		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTATCTCTCCTTTATTGAT	0.428													74	147					1.14856e-27	1.23385e-27	1	0	A	49974168	C	A	49974168	3	1	436	1	0	0	0	0	1	0	0	0	11118	855	30	2	196	2	OR4C13	11	49974168	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	17017283	49974168	85032348	87	86044											
NAALADL1	10004	broad.mit.edu	37	chr11	64812754	64812754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggctggggtcagaggtcagCcacaggcctcagggtggctg	6	6	19	10	0	3	1	3	0	0	1	3	1	3	1	2	7	1	2	2	7	0	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:64812754C>T	ENST00000358658.3	-	18	2239	c.2212G>A	c.(2212-2214)Gct>Act	p.A738T	NAALADL1_ENST00000355721.3_Missense_Mutation_p.A697T|NAALADL1_ENST00000526799.1_Missense_Mutation_p.A85T|NAALADL1_ENST00000340252.4_Missense_Mutation_p.A789T|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.A703T|NAALADL1_ENST00000355369.2_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	738					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGAGGTCAGCCACAGGCCTC	0.597													5	16					0	0	0	0	T	64812754	C	T	64812754	3	4	436	1	0	0	0	0	1	0	0	0	10199	739	26	4	14	4	NAALADL1	11	64812754	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	14838586	64812754	70193762	88	86045											
XRRA1	143570	broad.mit.edu	37	chr11	74638504	74638504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attaaatgcgagatccagttCctttagggctggaaacgtgt	11	12	11	7	2	0	1	0	0	0	1	2	3	2	2	2	2	2	2	2	2	4	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:74638504C>T	ENST00000340360.6	-	7	761	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	XRRA1_ENST00000527087.1_Missense_Mutation_p.E144K|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000321448.8_5'UTR	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	144					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						AGATCCAGTTCCTTTAGGGCT	0.393													8	17					0	0	0	0	T	74638504	C	T	74638504	3	4	436	1	0	0	0	0	1	0	0	0	17557	864	30	2	2000	2	XRRA1	11	74638504	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	9825750	74638504	60368012	89	86046											
EXPH5	23086	broad.mit.edu	37	chr11	108380744	108380744	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccaagggtcagtcgactCagggcattgtcaatagaagt	11	10	11	9	1	3	1	3	0	0	1	5	2	4	1	1	2	0	1	1	2	4	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:108380744C>G	ENST00000265843.4	-	6	5600	c.5490G>C	c.(5488-5490)ctG>ctC	p.L1830L	EXPH5_ENST00000428840.1_Silent_p.L1754L|EXPH5_ENST00000443411.1_Silent_p.L1642L|EXPH5_ENST00000525344.1_Silent_p.L1823L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1830					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAGTCGACTCAGGGCATTGT	0.423													25	38					0	0	0	0	G	108380744	C	G	108380744	2	3	436	1	0	0	0	0	0	0	0	1	5360	813	29	2		2	EXPH5	11	108380744	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	33742240	108380744	26625772	90	86047											
TRIM29	23650	broad.mit.edu	37	chr11	120008395	120008395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaggtaacgggtggcttCttggcagcccccagctggag	8	7	15	11	1	1	0	0	0	1	0	1	1	1	1	2	5	3	5	2	5	2	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:120008395C>T	ENST00000341846.5	-	1	766	c.345G>A	c.(343-345)aaG>aaA	p.K115K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	115					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGGTGGCTTCTTGGCAGCCC	0.607													24	267					0	0	0	0	T	120008395	C	T	120008395	2	4	436	1	0	0	0	0	0	0	0	1	16598	912	32	2		2	TRIM29	11	120008395	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	11627651	120008395	14998121	91	86048											
ARHGEF12	23365	broad.mit.edu	37	chr11	120351118	120351118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagttaacaaggaagagaagGatgttaatttacgcatctca	16	10	9	6	1	1	1	1	0	1	1	2	4	1	3	0	2	2	3	0	2	6	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:120351118G>A	ENST00000397843.2	+	38	4382	c.4216G>A	c.(4216-4218)Gat>Aat	p.D1406N	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D1303N|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1387N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1406					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGAAGAGAAGGATGTTAATTT	0.383			T	MLL	AML								4	70					0	0	0	0	A	120351118	G	A	120351118	3	1	436	1	0	0	0	0	1	0	0	0	899	1174	41	2	4366	2	ARHGEF12	11	120351118	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	342723	120351118	14655398	92	86049											
ZBTB44	29068	broad.mit.edu	37	chr11	130131665	130131665	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattttgtcctggacacgaAtagtgatatcacaaaaatgt	15	12	8	6	1	1	2	1	1	0	1	2	4	2	3	1	1	0	0	1	1	5	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:130131665A>T	ENST00000525842.1	-	2	471	c.104T>A	c.(103-105)aTt>aAt	p.I35N	ZBTB44_ENST00000357899.4_Missense_Mutation_p.I35N|ZBTB44_ENST00000397753.1_Missense_Mutation_p.I35N|ZBTB44_ENST00000530205.1_Missense_Mutation_p.I35N	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	35	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CTGGACACGAATAGTGATATC	0.448													37	83					0	0	0	0	T	130131665	A	T	130131665	3	4	436	1	0	0	0	0	1	0	0	0	17640	101	4	5	1277	5	ZBTB44	11	130131665	Missense_Mutation	SNP	A	TCGA-IQ-A61I-01A-11D-A30E-08	9780547	130131665	4874851	93	86050											
KDM5A	5927	broad.mit.edu	37	chr12	416876	416876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaggagtgacagaataGtctctagcctgggccttcga	11	9	11	10	1	1	2	0	1	1	1	3	4	1	3	3	2	2	0	3	2	4	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:416876G>A	ENST00000399788.2	-	23	4036	c.3674C>T	c.(3673-3675)aCt>aTt	p.T1225I	KDM5A_ENST00000382815.4_Missense_Mutation_p.T1225I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1225					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGACAGAATAGTCTCTAGCCT	0.483			T	NUP98	AML								4	62					0	0	0	0	A	416876	G	A	416876	3	1	436	1	0	0	0	0	1	0	0	0	8185	1029	36	4	1422	4	KDM5A	12	416876	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		416876	133435019	94	86051											
SCNN1A	6337	broad.mit.edu	37	chr12	6471399	6471399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaagcagtccgatttgttCtggttgcactggacacagag	10	11	12	8	1	1	2	0	0	1	2	2	4	2	3	1	2	2	4	1	2	2	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:6471399C>T	ENST00000358945.3	-	3	1133	c.693G>A	c.(691-693)caG>caA	p.Q231Q	SCNN1A_ENST00000360168.3_Silent_p.Q290Q|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000396966.2_Silent_p.Q231Q|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000228916.2_Silent_p.Q231Q|SCNN1A_ENST00000543768.1_Silent_p.Q254Q			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	231					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCGATTTGTTCTGGTTGCACT	0.562													33	68					0	0	0	0	T	6471399	C	T	6471399	2	4	436	1	0	0	0	0	0	0	0	1	14014	912	32	2		2	SCNN1A	12	6471399	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	6054523	6471399	127380496	95	86052											
TMEM117	84216	broad.mit.edu	37	chr12	44537383	44537383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaagtttcatgaaattaGctgcagtagggacctggatg	13	11	12	5	0	1	2	1	2	0	0	1	4	1	4	1	2	2	4	1	2	4	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:44537383G>A	ENST00000266534.3	+	4	593	c.466G>A	c.(466-468)Gct>Act	p.A156T	TMEM117_ENST00000536799.1_Intron|TMEM117_ENST00000551577.1_Missense_Mutation_p.A156T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	156						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CATGAAATTAGCTGCAGTAGG	0.413													16	60					0	0	0	0	A	44537383	G	A	44537383	3	1	436	1	0	0	0	0	1	0	0	0	16125	971	34	4	476	4	TMEM117	12	44537383	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	38065984	44537383	89314512	96	86053											
KRT7	3855	broad.mit.edu	37	chr12	52639288	52639288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaggagctggaagcCgccctgcagcggggcaagca	11	2	17	11	2	0	0	0	0	0	0	0	3	0	3	2	5	6	5	2	5	3	0	rs138875857	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:52639288C>T	ENST00000331817.5	+	7	1260	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	359	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		AGCTGGAAGCCGCCCTGCAGC	0.652													26	63					0	0	0	0	T	52639288	C	T	52639288	2	4	436	1	0	0	0	0	0	0	0	1	8535	639	23	1		1	KRT7	12	52639288	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	8101905	52639288	81212607	97	86054											
KRT8	3856	broad.mit.edu	37	chr12	53293763	53293763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgccttgacctcagcaatGatgctgtccatgtccaggga	8	11	11	11	0	1	2	1	2	0	0	3	3	3	3	4	1	3	2	4	1	1	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:53293763G>A	ENST00000552551.1	-	6	1209	c.777C>T	c.(775-777)atC>atT	p.I259I	KRT8_ENST00000552150.1_Silent_p.I287I|KRT8_ENST00000293308.6_Silent_p.I259I|KRT8_ENST00000546897.1_Silent_p.I259I			P05787	K2C8_HUMAN	keratin 8	259	Linker 12.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCAGCAATGATGCTGTCCA	0.582													19	60					0	0	0	0	A	53293763	G	A	53293763	2	1	436	1	0	0	0	0	0	0	0	1	8545	1280	45	2		2	KRT8	12	53293763	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	654475	53293763	80558132	98	86055											
SDR9C7	121214	broad.mit.edu	37	chr12	57317815	57317815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgccacctgcattatGttttttaacttgtcagtatc	7	17	7	10	0	2	0	1	0	1	0	3	0	2	0	2	1	3	4	2	1	3	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:57317815G>C	ENST00000293502.1	-	4	887	c.744C>G	c.(742-744)aaC>aaG	p.N248K		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	248						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTGCATTATGTTTTTTAACT	0.483													15	25					0	0	0	0	C	57317815	G	C	57317815	3	2	436	1	0	0	0	0	1	0	0	0	14061	1368	48	4	201	4	SDR9C7	12	57317815	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	4024052	57317815	76534080	99	86056											
UTP20	27340	broad.mit.edu	37	chr12	101680212	101680212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagagttgttagaatGggctttcacctcgttatcat	10	13	10	8	1	2	2	2	0	0	2	3	3	2	3	1	2	0	4	1	2	3	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:101680212G>A	ENST00000261637.4	+	5	614	c.440G>A	c.(439-441)tGg>tAg	p.W147*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	147					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTTAGAATGGGCTTTCACC	0.433													45	108					0	0	0	0	A	101680212	G	A	101680212	4	1	436	1	0	0	0	0	0	1	0	0	17195	1357	47	4	458	4	UTP20	12	101680212	Nonsense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	44362397	101680212	32171683	100	86057											
BMP4	652	broad.mit.edu	37	chr14	54418948	54418948	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccaggaatcatggtgtctCtggggagggggaggggagtg	8	8	20	5	0	2	0	1	0	1	0	3	4	2	4	1	8	1	0	1	8	2	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:54418948C>T	ENST00000245451.4	-	3	387		c.e3-1		BMP4_ENST00000558984.1_Splice_Site|BMP4_ENST00000559087.1_Splice_Site|BMP4_ENST00000417573.1_Splice_Site	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4						activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CATGGTGTCTCTGGGGAGGGG	0.468													20	32					0	0	0	0	T	54418948	C	T	54418948	5	4	436	1	0	0	0	0	0	0	1	0	1467	927	32	2		2	BMP4	14	54418948	Splice_Site	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		54418948	52930592	101	86058											
CINP	51550	broad.mit.edu	37	chr14	102825817	102825817	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacctgcatcattgagggTttcccacttcaggattaaat	13	12	7	9	0	2	1	2	1	0	0	3	2	3	2	2	2	2	2	2	2	4	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:102825817T>A	ENST00000216756.6	-	2	155	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	CINP_ENST00000541568.2_Missense_Mutation_p.T39S|CINP_ENST00000536961.2_Missense_Mutation_p.T54S	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	39					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						TCATTGAGGGTTTCCCACTTC	0.373													20	41					0	0	0	0	A	102825817	T	A	102825817	3	1	436	1	0	0	0	0	1	0	0	0	3460	1725	60	5	539	5	CINP	14	102825817	Missense_Mutation	SNP	T	TCGA-IQ-A61I-01A-11D-A30E-08	48406869	102825817	4523723	102	86059											
CDC42BPB	9578	broad.mit.edu	37	chr14	103410646	103410646	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagtgtggccgtggccatGagctggcagcctttggtttc	4	13	15	9	1	0	2	0	2	0	0	1	2	0	2	3	4	2	3	3	4	0	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:103410646G>C	ENST00000361246.2	-	30	4278	c.3990C>G	c.(3988-3990)ctC>ctG	p.L1330L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1330	CNH.				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			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)		CCGTGGCCATGAGCTGGCAGC	0.567													15	23					0	0	0	0	C	103410646	G	C	103410646	2	2	436	1	0	0	0	0	0	0	0	1	3102	1277	45	2		2	CDC42BPB	14	103410646	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	584829	103410646	3938894	103	86060											
CDC42BPB	9578	broad.mit.edu	37	chr14	103410676	103410676	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttggtttccggaagcttGatgtcaaagctgccttccgc	6	13	10	12	2	1	1	1	1	0	0	3	2	3	2	4	2	3	3	4	2	2	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:103410676G>A	ENST00000361246.2	-	30	4248	c.3960C>T	c.(3958-3960)atC>atT	p.I1320I		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1320	CNH.				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			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)		CCGGAAGCTTGATGTCAAAGC	0.572													14	20					0	0	0	0	A	103410676	G	A	103410676	2	1	436	1	0	0	0	0	0	0	0	1	3102	1280	45	2		2	CDC42BPB	14	103410676	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	30	103410676	3938864	104	86061											
EIF2AK4	440275	broad.mit.edu	37	chr15	40259877	40259877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatagcatttctaagcgcctCgcagacatttgcaaggagga	12	10	10	9	2	1	1	0	0	1	1	2	3	1	3	1	2	3	3	1	2	4	5			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:40259877C>T	ENST00000263791.5	+	9	1393	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	EIF2AK4_ENST00000382727.2_Silent_p.L450L|EIF2AK4_ENST00000559624.1_Silent_p.L450L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	450	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTAAGCGCCTCGCAGACATTT	0.468													4	70					0	0	0	0	T	40259877	C	T	40259877	2	4	436	1	0	0	0	0	0	0	0	1	5035	871	31	1		1	EIF2AK4	15	40259877	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		40259877	62271515	105	86062											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42139713	42139713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgactccttccgggagtactCggcccctggtgagctgctgt	4	10	13	14	3	0	1	0	1	0	0	3	3	2	2	4	3	3	3	4	3	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:42139713C>T	ENST00000382448.4	+	24	2828	c.2819C>T	c.(2818-2820)tCg>tTg	p.S940L	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S709L|JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S709L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		709					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CGGGAGTACTCGGCCCCTGGT	0.667													29	84					0	0	0	0	T	42139713	C	T	42139713	3	4	436	1	0	0	0	0	1	0	0	0	8008	893	31	1	2913	1	JMJD7-PLA2G4B	15	42139713	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	1879836	42139713	60391679	106	86063											
TGM5	9333	broad.mit.edu	37	chr15	43526973	43526973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactcctgcctacattaatCgtgatgcttggataagataa	12	12	9	8	1	0	2	0	1	0	1	2	4	1	4	2	2	3	1	2	2	4	5			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:43526973C>T	ENST00000220420.5	-	11	1876	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	TGM5_ENST00000349114.4_Silent_p.T541T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	623					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTACATTAATCGTGATGCTTG	0.542													4	66					0	0	0	0	T	43526973	C	T	43526973	2	4	436	1	0	0	0	0	0	0	0	1	15927	871	31	1		1	TGM5	15	43526973	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	1387260	43526973	59004419	107	86064											
TP53BP1	7158	broad.mit.edu	37	chr15	43766890	43766890	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctcccttcttgctcTgtgggactgctaggaacgat	5	14	10	12	1	3	0	0	0	3	0	4	3	3	2	2	2	3	2	2	2	2	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:43766890T>C	ENST00000263801.3	-	10	1398	c.1146A>G	c.(1144-1146)acA>acG	p.T382T	TP53BP1_ENST00000382044.4_Silent_p.T387T|TP53BP1_ENST00000450115.2_Silent_p.T387T|TP53BP1_ENST00000382039.3_Silent_p.T387T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	382					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTCTTGCTCTGTGGGACTGC	0.423								Other conserved DNA damage response genes					15	21					0	0	0	0	C	43766890	T	C	43766890	2	2	436	1	0	0	0	0	0	0	0	1	16478	1567	55	5		5	TP53BP1	15	43766890	Silent	SNP	T	TCGA-IQ-A61I-01A-11D-A30E-08	239917	43766890	58764502	108	86065											
STRC	161497	broad.mit.edu	37	chr15	43896333	43896333	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctagaagccgctccagggtCtctggacccaaggcctcctg	7	8	11	15	1	2	1	0	0	2	1	5	2	4	2	5	3	1	1	5	3	3	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:43896333C>T	ENST00000450892.2	-	22	4313	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	STRC_ENST00000541030.1_Silent_p.E639E	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1412					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCCAGGGTCTCTGGACCCA	0.562													8	11					0	0	0	0	T	43896333	C	T	43896333	2	4	436	1	0	0	0	0	0	0	0	1	15418	912	32	2		2	STRC	15	43896333	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	129443	43896333	58635059	109	86066											
SPG11	80208	broad.mit.edu	37	chr15	44907628	44907628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaacaatagagaatgaattGagaatggaaatcccaacctt	19	8	7	7	0	0	3	0	2	0	2	1	6	1	4	2	1	2	0	2	1	8	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:44907628G>C	ENST00000261866.7	-	16	2987	c.2971C>G	c.(2971-2973)Caa>Gaa	p.Q991E	SPG11_ENST00000558319.1_Missense_Mutation_p.Q991E|SPG11_ENST00000427534.2_Missense_Mutation_p.Q991E|SPG11_ENST00000535302.2_Missense_Mutation_p.Q991E	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	991					cell death	cytosol|integral to membrane|nucleus	protein binding	p.Q991*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGAATGAATTGAGAATGGAAA	0.423													5	58					0	0	0	0	C	44907628	G	C	44907628	3	2	436	1	0	0	0	0	1	0	0	0	15131	1299	45	2	4460	2	SPG11	15	44907628	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	1011295	44907628	57623764	110	86067											
MEGF11	84465	broad.mit.edu	37	chr15	66191233	66191233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttttcactgctattcaagGaacaagtactagaactgcac	13	11	8	9	0	2	1	2	0	0	1	2	2	2	2	0	2	5	4	0	2	7	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:66191233G>A	ENST00000409699.2	-	22	2979	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	MEGF11_ENST00000288745.3_Missense_Mutation_p.S861F|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.S861F|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.S936F			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	936						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTATTCAAGGAACAAGTACT	0.428													4	62					0	0	0	0	A	66191233	G	A	66191233	3	1	436	1	0	0	0	0	1	0	0	0	9530	1174	41	2	335	2	MEGF11	15	66191233	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	21283605	66191233	36340159	111	86068											
CCNF	899	broad.mit.edu	37	chr16	2487144	2487144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcagtgtctgtgtctgatGaggcccgcgcagaagtgaat	8	9	14	10	3	2	4	0	3	2	1	2	4	2	4	2	1	0	2	2	1	2	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:2487144G>A	ENST00000397066.4	+	5	449	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	121					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TGTGTCTGATGAGGCCCGCGC	0.567													6	143					0	0	0	0	A	2487144	G	A	2487144	3	1	436	1	0	0	0	0	1	0	0	0	2951	1291	45	2	379	2	CCNF	16	2487144	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		2487144	87867609	112	86069											
OR1F1	4992	broad.mit.edu	37	chr16	3254607	3254607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctagctgtgatggcctatGaccactttgtcgccgtgtgc	5	13	11	12	2	0	2	0	2	0	0	2	2	1	2	4	1	2	1	4	1	2	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:3254607G>A	ENST00000304646.2	+	1	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGGCCTATGACCACTTTGT	0.507													73	113					0	0	0	0	A	3254607	G	A	3254607	3	1	436	1	0	0	0	0	1	0	0	0	11027	1290	45	2	363	2	OR1F1	16	3254607	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	767463	3254607	87100146	113	86070											
USP7	7874	broad.mit.edu	37	chr16	9009317	9009317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cataccaccattttgccgcgGaataatttgggtatggtgcc	9	12	10	10	2	0	0	0	0	0	0	0	1	0	1	4	3	3	1	4	3	4	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:9009317G>T	ENST00000344836.4	-	9	1170	c.972C>A	c.(970-972)ttC>ttA	p.F324L	USP7_ENST00000381886.4_Missense_Mutation_p.F308L|USP7_ENST00000535863.1_Missense_Mutation_p.F225L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	324					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTTGCCGCGGAATAATTTGG	0.338													14	35					6.72482e-11	7.0158e-11	1	0	T	9009317	G	T	9009317	3	4	436	1	0	0	0	0	1	0	0	0	17184	1165	41	2	2428	2	USP7	16	9009317	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	5754710	9009317	81345436	114	86071											
ZC3H7A	29066	broad.mit.edu	37	chr16	11850101	11850101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggtactcactgtaacttCagcataatctgttggcatgt	10	13	8	10	1	3	0	2	0	1	0	3	0	3	0	0	2	3	5	0	2	3	5	rs150604583		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:11850101C>T	ENST00000396516.2	-	20	2751	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E852K|ZC3H7A_ENST00000575984.1_Missense_Mutation_p.E48K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	852						nucleus	nucleic acid binding|zinc ion binding	p.E852Q(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ACTGTAACTTCAGCATAATCT	0.398													40	82					0	0	0	0	T	11850101	C	T	11850101	3	4	436	1	0	0	0	0	1	0	0	0	17667	835	29	2	373	2	ZC3H7A	16	11850101	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	2840784	11850101	78504652	115	86072											
TMC5	79838	broad.mit.edu	37	chr16	19501748	19501748	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgactgtggcccttttCgaggtctgcctctcttcatt	4	15	9	13	1	3	1	1	1	2	0	5	2	3	1	2	2	2	1	2	2	0	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:19501748C>T	ENST00000396229.2	+	18	3354	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	TMC5_ENST00000564959.1_Nonsense_Mutation_p.R552*|TMC5_ENST00000561503.1_Nonsense_Mutation_p.R510*|TMC5_ENST00000542583.2_Nonsense_Mutation_p.R869*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.R817*|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Nonsense_Mutation_p.R623*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	869						integral to membrane		p.R869*(2)|p.R623*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGCCCTTTTCGAGGTCTGCC	0.483													6	151					0	0	0	0	T	19501748	C	T	19501748	4	4	436	1	0	0	0	0	0	1	0	0	16082	876	31	1	2981	1	TMC5	16	19501748	Nonsense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	7651647	19501748	70853005	116	86073											
CKLF	51192	broad.mit.edu	37	chr16	66599825	66599825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagtatgctgtcttgccGacggggcccttatttaccgg	6	11	12	12	3	1	0	0	0	1	0	1	1	1	0	3	3	4	3	3	3	3	5			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:66599825G>A	ENST00000264001.4	+	4	519	c.370G>A	c.(370-372)Gac>Aac	p.D124N	CKLF_ENST00000362093.4_Missense_Mutation_p.D39N|CKLF_ENST00000345436.4_Missense_Mutation_p.D92N|CKLF_ENST00000417030.2_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000351137.4_Missense_Mutation_p.D71N|CKLF_ENST00000532838.1_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CTGTCTTGCCGACGGGGCCCT	0.448													9	56					0	0	0	0	A	66599825	G	A	66599825	3	1	436	1	0	0	0	0	1	0	0	0	3477	1058	37	1	384	1	CKLF	16	66599825	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	47098077	66599825	23754928	117	86074											
TERF2	7014	broad.mit.edu	37	chr16	69404416	69404416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagggctcggcgtcatccagGtggctctccaggaagcgcag	7	7	15	12	3	2	0	1	0	1	0	5	1	3	1	2	5	1	3	2	5	2	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:69404416G>T	ENST00000254942.3	-	5	826	c.810C>A	c.(808-810)caC>caA	p.H270Q	TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Missense_Mutation_p.H270Q|TERF2_ENST00000603068.1_Missense_Mutation_p.H228Q	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	228					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CGTCATCCAGGTGGCTCTCCA	0.517													15	17					1.52009e-12	1.60907e-12	1	0	T	69404416	G	T	69404416	3	4	436	1	0	0	0	0	1	0	0	0	15856	1252	44	4	842	4	TERF2	16	69404416	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	2804591	69404416	20950337	118	86075											
ATP2C2	9914	broad.mit.edu	37	chr16	84438772	84438772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcggagttctcggtgacGcagcgccggctggcccatgg	4	8	16	13	5	1	1	0	1	1	0	3	2	1	2	2	5	1	3	2	5	0	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:84438772G>A	ENST00000416219.2	+	3	338	c.249G>A	c.(247-249)acG>acA	p.T83T	ATP2C2_ENST00000262429.4_Silent_p.T83T			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	83					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCTCGGTGACGCAGCGCCGGC	0.562													4	37					0	0	0	0	A	84438772	G	A	84438772	2	1	436	1	0	0	0	0	0	0	0	1	1148	1074	38	1		1	ATP2C2	16	84438772	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	15034356	84438772	5915981	119	86076											
NLRP1	22861	broad.mit.edu	37	chr17	5462999	5462999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcctggccagtgttgacttCccaattccagcagccccctg	6	10	9	16	0	0	1	0	1	0	0	2	1	2	1	6	1	3	2	6	1	1	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:5462999C>T	ENST00000345221.3	-	4	1571	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	NLRP1_ENST00000269280.4_Silent_p.G339G|NLRP1_ENST00000354411.3_Silent_p.G339G|NLRP1_ENST00000577119.1_Silent_p.G339G|NLRP1_ENST00000572272.1_Silent_p.G339G|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.G339G	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	339	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTGTTGACTTCCCAATTCCAG	0.542													37	118					0	0	0	0	T	5462999	C	T	5462999	2	4	436	1	0	0	0	0	0	0	0	1	10541	842	30	2		2	NLRP1	17	5462999	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		5462999	75732211	120	86077											
ZNF287	57336	broad.mit.edu	37	chr17	16455848	16455848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaacattcattgcatttAtatggtttcttcccagtatg	9	18	5	9	0	2	0	1	0	1	0	4	0	4	0	2	1	2	3	2	1	4	9			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:16455848A>G	ENST00000395824.1	-	6	2225	c.1608T>C	c.(1606-1608)taT>taC	p.Y536Y	ZNF287_ENST00000395825.3_Silent_p.Y536Y			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	529					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATTGCATTTATATGGTTTCT	0.348													36	45					0	0	0	0	G	16455848	A	G	16455848	2	3	436	1	0	0	0	0	0	0	0	1	17920	456	16	5		5	ZNF287	17	16455848	Silent	SNP	A	TCGA-IQ-A61I-01A-11D-A30E-08	10992849	16455848	64739362	121	86078											
SREBF1	6720	broad.mit.edu	37	chr17	17722964	17722964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggacctgggtgtgcaagGagacgggcgggacccctggc	6	6	18	11	2	1	1	0	0	1	1	1	4	1	3	3	6	1	1	3	6	1	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:17722964G>T	ENST00000355815.4	-	4	858	c.689C>A	c.(688-690)tCc>tAc	p.S230Y	SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000435530.2_Missense_Mutation_p.S200Y|SREBF1_ENST00000338854.5_Missense_Mutation_p.S200Y|SREBF1_ENST00000261646.5_Missense_Mutation_p.S200Y|SREBF1_ENST00000583732.1_Intron	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	200					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGTGTGCAAGGAGACGGGCGG	0.662													8	26					0.000274275	0.000274275	1	0	T	17722964	G	T	17722964	3	4	436	1	0	0	0	0	1	0	0	0	15231	1174	41	2	2912	2	SREBF1	17	17722964	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	1267116	17722964	63472246	122	86079											
FLOT2	2319	broad.mit.edu	37	chr17	27209406	27209406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgccaatgtcagcatctctCtgcaccacggcagtctgcgt	8	9	9	15	3	4	0	1	0	3	0	5	0	4	0	2	1	3	3	2	1	1	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:27209406C>G	ENST00000394906.2	-	8	770	c.693G>C	c.(691-693)caG>caC	p.Q231H	FLOT2_ENST00000585169.1_Missense_Mutation_p.Q176H|FLOT2_ENST00000394908.4_Missense_Mutation_p.Q176H|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	176					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CAGCATCTCTCTGCACCACGG	0.587													4	56					0	0	0	0	G	27209406	C	G	27209406	3	3	436	1	0	0	0	0	1	0	0	0	5982	912	32	2	782	2	FLOT2	17	27209406	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	9486442	27209406	53985804	123	86080											
DHRS11	79154	broad.mit.edu	37	chr17	34951448	34951448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctaccccgggactttgatCccctacagatgtgacctatc	8	10	9	14	1	0	3	0	2	0	1	2	4	1	4	5	2	2	1	5	2	3	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:34951448C>T	ENST00000251312.5	+	2	407	c.195C>T	c.(193-195)atC>atT	p.I65I	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	65						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						GGACTTTGATCCCCTACAGAT	0.532													25	49					0	0	0	0	T	34951448	C	T	34951448	2	4	436	1	0	0	0	0	0	0	0	1	4524	845	30	2		2	DHRS11	17	34951448	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	7742042	34951448	46243762	124	86081											
STAT3	6774	broad.mit.edu	37	chr17	40490751	40490751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctctaatattcacttgcctCcttgactcttgagggtttta	7	18	6	10	0	3	2	1	2	2	0	5	2	4	2	2	1	1	1	2	1	3	8			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:40490751C>T	ENST00000264657.5	-	6	860	c.548G>A	c.(547-549)gGa>gAa	p.G183E	STAT3_ENST00000389272.3_Missense_Mutation_p.G85E|STAT3_ENST00000588969.1_Missense_Mutation_p.G183E|STAT3_ENST00000585517.1_Missense_Mutation_p.G183E|STAT3_ENST00000404395.3_Missense_Mutation_p.G183E	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	183					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCACTTGCCTCCTTGACTCTT	0.343									Hyperimmunoglobulin E Recurrent Infection Syndrome				22	29					0	0	0	0	T	40490751	C	T	40490751	3	4	436	1	0	0	0	0	1	0	0	0	15356	855	30	2	1840	2	STAT3	17	40490751	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	5539303	40490751	40704459	125	86082											
FMNL1	752	broad.mit.edu	37	chr17	43314943	43314943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggagctgctggcGgccgtgtgcttggtgcgggg	1	10	21	9	3	0	0	0	0	0	0	0	1	0	1	1	7	5	4	1	7	0	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:43314943G>A	ENST00000331495.3	+	9	1167	c.831G>A	c.(829-831)gcG>gcA	p.A277A	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.A277A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	277	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCTGCTGGCGGCCGTGTGCT	0.607													55	124					0	0	0	0	A	43314943	G	A	43314943	2	1	436	1	0	0	0	0	0	0	0	1	5996	1103	39	1		1	FMNL1	17	43314943	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	2824192	43314943	37880267	126	86083											
TBC1D16	125058	broad.mit.edu	37	chr17	77921464	77921464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttgtttctccatgtcctCgtcccggggtgagctgacga	5	12	12	12	3	1	2	0	2	1	0	5	3	3	2	3	2	1	3	3	2	0	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:77921464C>T	ENST00000310924.2	-	9	1823	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	TBC1D16_ENST00000570373.1_Missense_Mutation_p.E209K|TBC1D16_ENST00000572862.1_Missense_Mutation_p.E208K|TBC1D16_ENST00000576768.1_Missense_Mutation_p.E195K|TBC1D16_ENST00000340848.7_Missense_Mutation_p.E208K	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	570	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCATGTCCTCGTCCCGGGGT	0.612													4	89					0	0	0	0	T	77921464	C	T	77921464	3	4	436	1	0	0	0	0	1	0	0	0	15696	893	31	1	611	1	TBC1D16	17	77921464	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	34606521	77921464	3273746	127	86084											
CCDC57	284001	broad.mit.edu	37	chr17	80159775	80159775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccactcctcctccttgcGaagcagcagctcattcaggg	7	9	8	17	1	2	0	2	0	0	0	6	1	6	0	5	1	4	3	5	1	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:80159775G>A	ENST00000392347.1	-	2	82	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CCDC57_ENST00000392343.3_Missense_Mutation_p.R16C|CCDC57_ENST00000389641.4_Missense_Mutation_p.R16C	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	16										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCCTCCTTGCGAAGCAGCAGC	0.657													3	32					0	0	0	0	A	80159775	G	A	80159775	3	1	436	1	0	0	0	0	1	0	0	0	2854	1058	37	1	2765	1	CCDC57	17	80159775	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	2238311	80159775	1035435	128	86085											
CEP76	79959	broad.mit.edu	37	chr18	12697318	12697318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgctactaaagtcgtctCaccaaatatgtctgttttga	11	15	7	8	1	2	2	1	2	2	0	4	2	2	2	1	0	2	2	1	0	5	5			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr18:12697318C>T	ENST00000262127.2	-	5	835	c.610G>A	c.(610-612)Gag>Aag	p.E204K	CEP76_ENST00000423709.2_Missense_Mutation_p.E129K|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	204					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAGTCGTCTCACCAAATATG	0.388													24	48					0	0	0	0	T	12697318	C	T	12697318	3	4	436	1	0	0	0	0	1	0	0	0	3290	835	29	2	1401	2	CEP76	18	12697318	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		12697318	65379930	129	86086											
ZNF397	84307	broad.mit.edu	37	chr18	32822651	32822651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctctgagccgactccagGaactttgctatcagtggcta	9	10	11	11	1	2	1	1	1	1	0	3	3	3	2	2	3	3	3	2	3	3	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr18:32822651G>A	ENST00000330501.7	+	2	370	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF397_ENST00000591206.1_Missense_Mutation_p.E73K|ZNF397_ENST00000592264.1_Missense_Mutation_p.E73K|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Missense_Mutation_p.E73K|ZNF397_ENST00000585800.1_Missense_Mutation_p.E73K|ZNF397_ENST00000355632.4_Missense_Mutation_p.E73K	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	73	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CCGACTCCAGGAACTTTGCTA	0.512													17	63					0	0	0	0	A	32822651	G	A	32822651	3	1	436	1	0	0	0	0	1	0	0	0	17978	1175	41	2	219	2	ZNF397	18	32822651	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	20125333	32822651	45254597	130	86087											
SLC14A2	8170	broad.mit.edu	37	chr18	43221255	43221255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctcctgcatcgccatcgGaggcatgttctatgccctca	6	11	8	16	2	3	0	1	0	2	0	6	1	3	1	4	2	2	3	4	2	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr18:43221255G>A	ENST00000255226.6	+	8	1889	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G358E	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	358						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCGCCATCGGAGGCATGTTC	0.552													24	38					0	0	0	0	A	43221255	G	A	43221255	3	1	436	1	0	0	0	0	1	0	0	0	14485	1174	41	2	1099	2	SLC14A2	18	43221255	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	10398604	43221255	34855993	131	86088											
MBP	4155	broad.mit.edu	37	chr18	74692412	74692412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccatgggtgatccagagcGactatctcttcctccctgaa	9	10	9	13	1	1	3	0	2	1	1	5	4	4	3	4	1	2	0	4	1	2	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr18:74692412G>A	ENST00000355994.2	-	9	1149	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	MBP_ENST00000382582.3_Missense_Mutation_p.R189C|MBP_ENST00000359645.3_Missense_Mutation_p.R178C|MBP_ENST00000397875.3_Missense_Mutation_p.R173C|MBP_ENST00000578193.1_3'UTR|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000397866.4_Missense_Mutation_p.R163C|MBP_ENST00000354542.4_Missense_Mutation_p.R65C|MBP_ENST00000526111.1_Missense_Mutation_p.R141C|MBP_ENST00000580402.1_Missense_Mutation_p.R296C|MBP_ENST00000528160.1_Silent_p.V46V|MBP_ENST00000397869.3_Missense_Mutation_p.R228C|MBP_ENST00000579129.1_Missense_Mutation_p.R245C|MBP_ENST00000527041.1_Intron|MBP_ENST00000397865.5_Missense_Mutation_p.R152C	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	296					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			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)		GATCCAGAGCGACTATCTCTT	0.527													37	94					0	0	0	0	A	74692412	G	A	74692412	3	1	436	1	0	0	0	0	1	0	0	0	9428	1058	37	1	32	1	MBP	18	74692412	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	31471157	74692412	3384836	132	86089											
MUC16	94025	broad.mit.edu	37	chr19	9087590	9087590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggagctgactgtgtctCaaatccagatgatttttctg	8	15	9	9	0	2	3	1	2	2	1	5	4	4	4	2	1	1	1	2	1	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:9087590C>G	ENST00000397910.4	-	1	4428	c.4225G>C	c.(4225-4227)Gag>Cag	p.E1409Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1409	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTGTCTCAAATCCAGAT	0.473													41	93					0	0	0	0	G	9087590	C	G	9087590	3	3	436	1	0	0	0	0	1	0	0	0	10043	835	29	2	39634	2	MUC16	19	9087590	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		9087590	50041393	133	86090											
ZNF561	93134	broad.mit.edu	37	chr19	9721241	9721241	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccacattccttacactGatagggtttctttccactgt	7	17	5	12	0	1	1	0	1	1	0	4	1	4	1	3	1	1	1	3	1	2	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:9721241G>A	ENST00000302851.3	-	6	1459	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	ZNF561_ENST00000354661.4_Nonsense_Mutation_p.Q230*|ZNF561_ENST00000424629.1_Nonsense_Mutation_p.Q297*|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TCCTTACACTGATAGGGTTTC	0.423													33	69					0	0	0	0	A	9721241	G	A	9721241	4	1	436	1	0	0	0	0	0	1	0	0	18087	1299	45	2	368	2	ZNF561	19	9721241	Nonsense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	633651	9721241	49407742	134	86091											
TYK2	7297	broad.mit.edu	37	chr19	10476542	10476542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtgctgccggatatgcCggcggaaggagcgcgggatg	6	6	19	10	6	0	0	0	0	0	0	0	4	0	4	2	5	4	2	2	5	2	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:10476542C>T	ENST00000525621.1	-	7	1143	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	TYK2_ENST00000529370.1_Missense_Mutation_p.R221Q|TYK2_ENST00000524462.1_Missense_Mutation_p.R36Q|TYK2_ENST00000264818.6_Missense_Mutation_p.R221Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	221	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCGGATATGCCGGCGGAAGGA	0.677													6	17					0	0	0	0	T	10476542	C	T	10476542	3	4	436	1	0	0	0	0	1	0	0	0	16906	652	23	1	2977	1	TYK2	19	10476542	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	755301	10476542	48652441	135	86092											
ZNF44	51710	broad.mit.edu	37	chr19	12385844	12385844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttctggttttcccatttCattcctaaaagagagatcca	11	15	6	9	0	2	2	1	0	1	2	5	3	5	2	3	1	0	2	3	1	2	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:12385844C>T	ENST00000356109.5	-	4	397	c.279G>A	c.(277-279)atG>atA	p.M93I	ZNF44_ENST00000355684.5_Missense_Mutation_p.M45I	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTCCCATTTCATTCCTAAAA	0.308													3	16					0	0	0	0	T	12385844	C	T	12385844	3	4	436	1	0	0	0	0	1	0	0	0	18007	826	29	2	1720	2	ZNF44	19	12385844	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	1909302	12385844	46743139	136	86093											
NACC1	112939	broad.mit.edu	37	chr19	13246599	13246599	+	Frame_Shift_Del	DEL	C	C	-																															ggacagtggccagaaggaggCtgggggcggcggcaatggca																										TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:13246599delC	ENST00000292431.4	+	2	704	c.578delC	c.(577-579)gtfs	p.A193fs		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	193					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CAGAAGGAGGCTGGGGGCGGC	0.701													2	4	---	---	---	---					-	13246599	C	-	13246599	7	5	436	1	0	1	0	1	0	0	0	0	10205	797	28	0	580	0	NACC1	19	13246599	Frame_Shift_Del	DEL	C	TCGA-IQ-A61I-01A-11D-A30E-08	860755	13246599	45882384	137	86094											
HIPK4	147746	broad.mit.edu	37	chr19	40889933	40889933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacacgtccaccttctcGcagaagggcagccccagcag	10	4	10	17	2	1	1	0	0	1	1	3	2	2	1	5	1	2	3	5	1	1	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:40889933G>A	ENST00000291823.2	-	2	863	c.579C>T	c.(577-579)tgC>tgT	p.C193C		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	193	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCACCTTCTCGCAGAAGGGCA	0.632													4	85					0	0	0	0	A	40889933	G	A	40889933	2	1	436	1	0	0	0	0	0	0	0	1	7169	1079	38	1		1	HIPK4	19	40889933	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	27643334	40889933	18239050	138	86095											
RELB	5971	broad.mit.edu	37	chr19	45515473	45515473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacgagtgcgagggccgctCggccggcagcatccttgggg	5	6	17	13	5	0	0	0	0	0	0	2	2	1	0	3	5	3	3	3	5	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:45515473C>T	ENST00000221452.8	+	4	593	c.443C>T	c.(442-444)tCg>tTg	p.S148L	RELB_ENST00000540120.1_Missense_Mutation_p.S148L|RELB_ENST00000505236.1_Missense_Mutation_p.S145L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	148	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GAGGGCCGCTCGGCCGGCAGC	0.761													20	15					0	0	0	0	T	45515473	C	T	45515473	3	4	436	1	0	0	0	0	1	0	0	0	13299	893	31	1	449	1	RELB	19	45515473	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	4625540	45515473	13613510	139	86096											
CABP5	56344	broad.mit.edu	37	chr19	48543884	48543884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcatgcggatttgctggccGagctcaatcagttccatctc	7	13	9	12	2	4	0	3	0	1	0	6	2	5	1	2	2	3	3	2	2	1	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:48543884G>A	ENST00000293255.2	-	3	346	c.216C>T	c.(214-216)ctC>ctT	p.L72L		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	72	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TTTGCTGGCCGAGCTCAATCA	0.532													25	45					0	0	0	0	A	48543884	G	A	48543884	2	1	436	1	0	0	0	0	0	0	0	1	2559	1045	37	1		1	CABP5	19	48543884	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	3028411	48543884	10585099	140	86097											
RASIP1	54922	broad.mit.edu	37	chr19	49224135	49224135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatcccagaggaggcggcGgagcctacggagttcacggt	10	5	16	10	4	1	2	1	0	0	2	2	5	2	5	2	6	2	1	2	6	2	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:49224135G>A	ENST00000222145.4	-	12	3016	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	938					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGAGGCGGCGGAGCCTACGG	0.652													5	99					0	0	0	0	A	49224135	G	A	49224135	3	1	436	1	0	0	0	0	1	0	0	0	13160	1116	39	1	83	1	RASIP1	19	49224135	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	680251	49224135	9904848	141	86098											
NUCB1	4924	broad.mit.edu	37	chr19	49404064	49404064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacactgccatgcctccctCtgggccccgaggaaccctcc	6	6	8	21	1	1	0	0	0	1	0	3	2	3	1	8	2	3	0	8	2	1	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:49404064C>T	ENST00000405315.4	+	2	345	c.11C>T	c.(10-12)tCt>tTt	p.S4F	NUCB1_ENST00000263273.5_Missense_Mutation_p.S4F|NUCB1_ENST00000407032.1_Missense_Mutation_p.S4F|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	4						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ATGCCTCCCTCTGGGCCCCGA	0.652													6	65					0	0	0	0	T	49404064	C	T	49404064	3	4	436	1	0	0	0	0	1	0	0	0	10789	913	32	2	13	2	NUCB1	19	49404064	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	179929	49404064	9724919	142	86099											
TMC4	147798	broad.mit.edu	37	chr19	54673360	54673360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcggtccgtcttagttccaGagccatagaccacctggtcc	8	10	9	14	2	1	2	0	0	1	2	5	2	4	2	6	2	1	1	6	2	2	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:54673360G>C	ENST00000376591.4	-	3	481	c.350C>G	c.(349-351)tCt>tGt	p.S117C	TMC4_ENST00000301187.4_Missense_Mutation_p.S111C|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	117						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTAGTTCCAGAGCCATAGAC	0.572													20	55					0	0	0	0	C	54673360	G	C	54673360	3	2	436	1	0	0	0	0	1	0	0	0	16081	942	33	2	1840	2	TMC4	19	54673360	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	5269296	54673360	4455623	143	86100											
NCR1	9437	broad.mit.edu	37	chr19	55424082	55424082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccctctgggatcacactgCccagaatctccttcggatgg	7	10	10	14	1	3	1	1	0	2	1	5	3	3	3	3	3	2	0	3	3	1	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:55424082C>T	ENST00000594765.1	+	7	780	c.755C>T	c.(754-756)gCc>gTc	p.A252V	NCR1_ENST00000338835.5_Missense_Mutation_p.A236V|NCR1_ENST00000598576.1_Missense_Mutation_p.A240V|NCR1_ENST00000447255.1_Missense_Mutation_p.A252V|NCR1_ENST00000291890.4_Missense_Mutation_p.A253V|NCR1_ENST00000357397.5_Missense_Mutation_p.A146V|NCR1_ENST00000350790.5_Missense_Mutation_p.A158V			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	253					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			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)		GATCACACTGCCCAGAATCTC	0.498													34	39					0	0	0	0	T	55424082	C	T	55424082	3	4	436	1	0	0	0	0	1	0	0	0	10307	739	26	4	784	4	NCR1	19	55424082	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	750722	55424082	3704901	144	86101											
ZNF211	10520	broad.mit.edu	37	chr19	58152857	58152857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatagccataggaaagttCacactggagaaaggccttat	15	9	9	8	0	2	1	2	0	0	1	2	3	2	2	2	3	1	1	2	3	6	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:58152857C>T	ENST00000544273.1	+	5	1366	c.1039C>T	c.(1039-1041)Cac>Tac	p.H347Y	ZNF211_ENST00000420680.1_Missense_Mutation_p.H339Y|ZNF211_ENST00000240731.4_Missense_Mutation_p.H348Y|ZNF211_ENST00000391703.3_Missense_Mutation_p.H274Y|ZNF211_ENST00000347302.3_Missense_Mutation_p.H335Y|ZNF211_ENST00000254182.7_Missense_Mutation_p.H326Y|ZNF211_ENST00000299871.5_Missense_Mutation_p.H400Y|ZNF211_ENST00000541801.1_Missense_Mutation_p.H326Y			Q13398	ZN211_HUMAN	zinc finger protein 211	335						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGAAAGTTCACACTGGAGA	0.458													29	55					0	0	0	0	T	58152857	C	T	58152857	3	4	436	1	0	0	0	0	1	0	0	0	17862	826	29	2	1056	2	ZNF211	19	58152857	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	2728775	58152857	976126	145	86102											
ZNF324	25799	broad.mit.edu	37	chr19	58982230	58982230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgtaaaaagcctgcagaGacaacggggtgcctccccat	12	6	11	12	1	0	1	0	0	0	1	1	2	1	1	4	2	4	2	4	2	4	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:58982230G>A	ENST00000536459.2	+	4	1080	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF324_ENST00000196482.3_Missense_Mutation_p.R124K			O75467	Z324A_HUMAN	zinc finger protein 324	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGCCTGCAGAGACAACGGGGT	0.602													35	96					0	0	0	0	A	58982230	G	A	58982230	3	1	436	1	0	0	0	0	1	0	0	0	17939	942	33	2	381	2	ZNF324	19	58982230	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	829373	58982230	146753	146	86103											
POLR3F	10621	broad.mit.edu	37	chr20	18448187	18448187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgcagccgcctgacGcggatccggtcgaaatagaa	11	6	14	10	5	0	3	0	2	0	1	2	5	1	4	3	3	2	1	3	3	4	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr20:18448187G>A	ENST00000377603.4	+	1	417	c.37G>A	c.(37-39)Gcg>Acg	p.A13T	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	13					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						GCCGCCTGACGCGGATCCGGT	0.632													6	87					0	0	0	0	A	18448187	G	A	18448187	3	1	436	1	0	0	0	0	1	0	0	0	12305	1087	38	1	39	1	POLR3F	20	18448187	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		18448187	44577333	147	86104											
TTC3	7267	broad.mit.edu	37	chr21	38568201	38568201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgggctggccaggcagctCtgtcagaacgaagccctgtg	9	6	14	12	2	2	1	1	0	1	1	2	2	2	1	2	3	4	3	2	3	3	0	rs140969268		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr21:38568201C>G	ENST00000399017.2	+	42	8190	c.5443C>G	c.(5443-5445)Ctg>Gtg	p.L1815V	TTC3_ENST00000354749.2_Missense_Mutation_p.L1815V|TTC3_ENST00000355666.1_Missense_Mutation_p.L1815V|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1815					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCAGGCAGCTCTGTCAGAACG	0.597													27	37					0	0	0	0	G	38568201	C	G	38568201	3	3	436	1	0	0	0	0	1	0	0	0	16793	912	32	2	5605	2	TTC3	21	38568201	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		38568201	9561694	148	86105											
DGCR8	54487	broad.mit.edu	37	chr22	20074123	20074123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacaatttggagctagatGaagaaggagcaggcgggttc	12	8	15	6	1	0	4	0	2	0	2	1	6	0	6	0	4	2	3	0	4	4	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:20074123G>A	ENST00000351989.3	+	2	1066	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	DGCR8_ENST00000383024.2_Missense_Mutation_p.E213K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E213K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	213	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGAGCTAGATGAAGAAGGAGC	0.473													29	83					0	0	0	0	A	20074123	G	A	20074123	3	1	436	1	0	0	0	0	1	0	0	0	4501	1291	45	2	639	2	DGCR8	22	20074123	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08		20074123	31230443	149	86106											
EWSR1	2130	broad.mit.edu	37	chr22	29693822	29693822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtcttgttccagggaaaGattttcaagggagcaaactt	11	13	11	6	0	2	1	1	0	1	1	3	3	3	3	1	2	2	3	1	2	3	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:29693822G>C	ENST00000397938.2	+	13	1619	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	EWSR1_ENST00000332050.6_Missense_Mutation_p.D361H|EWSR1_ENST00000331029.7_Missense_Mutation_p.D396H|EWSR1_ENST00000332035.6_Missense_Mutation_p.D378H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D433H|EWSR1_ENST00000414183.2_Missense_Mutation_p.D439H	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	434	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCAGGGAAAGATTTTCAAGG	0.502			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								17	40					0	0	0	0	C	29693822	G	C	29693822	3	2	436	1	0	0	0	0	1	0	0	0	5333	942	33	2	1467	2	EWSR1	22	29693822	Missense_Mutation	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	9619699	29693822	21610744	150	86107											
TRIOBP	11078	broad.mit.edu	37	chr22	38121171	38121171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctggaacctcctcatctCaatgctgcacccaaaaggag	12	7	7	15	0	2	0	2	0	1	0	4	2	3	2	4	2	3	2	4	2	4	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:38121171C>G	ENST00000406386.3	+	7	2863	c.2608C>G	c.(2608-2610)Caa>Gaa	p.Q870E	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	870					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCTCATCTCAATGCTGCAC	0.498													59	154					0	0	0	0	G	38121171	C	G	38121171	3	3	436	1	0	0	0	0	1	0	0	0	16648	827	29	2	2626	2	TRIOBP	22	38121171	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	8427349	38121171	13183395	151	86108											
TRIOBP	11078	broad.mit.edu	37	chr22	38121380	38121380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctgggcatccatcgccctCcggccaacccaaggtgacag	8	5	10	18	2	0	1	0	1	0	0	3	1	2	1	6	3	1	1	6	3	2	0			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:38121380C>T	ENST00000406386.3	+	7	3072	c.2817C>T	c.(2815-2817)ctC>ctT	p.L939L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	939					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCATCGCCCTCCGGCCAACCC	0.637													52	150					0	0	0	0	T	38121380	C	T	38121380	2	4	436	1	0	0	0	0	0	0	0	1	16648	842	30	2		2	TRIOBP	22	38121380	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	209	38121380	13183186	152	86109											
CBX7	23492	broad.mit.edu	37	chr22	39530551	39530551	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgggaacttcttgcgcgaGagccgcaggtacttgtgggc	6	8	17	10	4	1	1	0	0	1	1	1	3	1	2	1	4	4	2	1	4	2	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:39530551G>C	ENST00000216133.5	-	5	658	c.453C>G	c.(451-453)ctC>ctG	p.L151L	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	151					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TCTTGCGCGAGAGCCGCAGGT	0.697													3	11					0	0	0	0	C	39530551	G	C	39530551	2	2	436	1	0	0	0	0	0	0	0	1	2748	929	33	2		2	CBX7	22	39530551	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	1409171	39530551	11774015	153	86110											
NUP50	10762	broad.mit.edu	37	chr22	45574294	45574294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgtgcgggattggatagtGaagcacgtgaatacaaaccc	12	8	12	9	3	0	2	0	2	0	0	1	4	1	4	2	2	4	1	2	2	5	3			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:45574294G>A	ENST00000347635.3	+	5	982	c.516G>A	c.(514-516)gtG>gtA	p.V172V	NUP50_ENST00000407019.2_Silent_p.V144V|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Silent_p.V144V|NUP50_ENST00000425733.2_5'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	172	5 X 2 AA repeats of F-G.|Binding to CDKN1B (By similarity).				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTGGATAGTGAAGCACGTGA	0.483													14	48					0	0	0	0	A	45574294	G	A	45574294	2	1	436	1	0	0	0	0	0	0	0	1	10837	1277	45	2		2	NUP50	22	45574294	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	6043743	45574294	5730272	154	86111											
CXorf21	80231	broad.mit.edu	37	chrX	30577888	30577888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatttgcaagctgcttttCtctttgatgcttgttattct	5	21	7	8	0	2	1	0	1	2	0	3	1	2	1	0	0	5	6	0	0	2	7			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:30577888C>T	ENST00000378962.3	-	3	907	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	195										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGCTGCTTTTCTCTTTGATGC	0.413													46	63					0	0	0	0	T	30577888	C	T	30577888	2	4	436	1	0	0	0	0	0	0	0	1	4133	912	32	2		2	CXorf21	23	30577888	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08		30577888	124692672	155	86112											
DMD	1756	broad.mit.edu	37	chrX	31227742	31227742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attaataatctgcaggatatCcatgggctggtcattttgct	10	15	9	7	0	2	0	1	0	1	0	3	1	3	1	1	3	2	3	1	3	3	5			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:31227742C>T	ENST00000357033.4	-	65	9642	c.9436G>A	c.(9436-9438)Gat>Aat	p.D3146N	DMD_ENST00000378707.3_Missense_Mutation_p.D686N|DMD_ENST00000378677.2_Missense_Mutation_p.D3142N|DMD_ENST00000541735.1_Missense_Mutation_p.D686N|DMD_ENST00000343523.2_Missense_Mutation_p.D686N|DMD_ENST00000378680.2_Missense_Mutation_p.D78N|DMD_ENST00000474231.1_Missense_Mutation_p.D686N|DMD_ENST00000378702.4_Missense_Mutation_p.D78N|DMD_ENST00000378723.3_Missense_Mutation_p.D78N|DMD_ENST00000359836.1_Missense_Mutation_p.D686N|DMD_ENST00000361471.4_Missense_Mutation_p.D78N	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	3146	Interaction with SYNM (By similarity).				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			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)				TGCAGGATATCCATGGGCTGG	0.443													20	41					0	0	0	0	T	31227742	C	T	31227742	3	4	436	1	0	0	0	0	1	0	0	0	4617	855	30	2	1771	2	DMD	23	31227742	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	649854	31227742	124042818	156	86113											
MED14	9282	broad.mit.edu	37	chrX	40572268	40572268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcttcaaattctccttCaacacgaaacttcacccggc	10	10	7	14	2	4	0	3	0	1	0	5	1	4	0	2	3	2	1	2	3	3	4			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:40572268C>T	ENST00000324817.1	-	6	797	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	227	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATTCTCCTTCAACACGAAAC	0.413													19	36					0	0	0	0	T	40572268	C	T	40572268	3	4	436	1	0	0	0	0	1	0	0	0	9501	835	29	2	3789	2	MED14	23	40572268	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	9344526	40572268	114698292	157	86114											
RIBC1	158787	broad.mit.edu	37	chrX	53455326	53455326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagaaagtccaggagtttCgggagcagaagcagcagctc	13	5	13	10	1	0	2	0	0	0	2	3	4	1	4	2	2	4	5	2	2	3	1			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:53455326C>T	ENST00000457095.1	+	5	499	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.R99W	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	99										lung(2)	2						CCAGGAGTTTCGGGAGCAGAA	0.512													13	13					0	0	0	0	T	53455326	C	T	53455326	3	4	436	1	0	0	0	0	1	0	0	0	13435	875	31	1	305	1	RIBC1	23	53455326	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	12883058	53455326	101815234	158	86115											
MAGEE2	139599	broad.mit.edu	37	chrX	75004819	75004819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtagcttgtatttcacctCtgccgtcgccgtaatctgca	7	14	8	12	3	3	0	1	0	2	0	4	0	3	0	3	0	3	5	3	0	4	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:75004819C>G	ENST00000373359.2	-	1	260	c.68G>C	c.(67-69)aGa>aCa	p.R23T		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	23										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TATTTCACCTCTGCCGTCGCC	0.577													18	35					0	0	0	0	G	75004819	C	G	75004819	3	3	436	1	0	0	0	0	1	0	0	0	9255	913	32	2	1507	2	MAGEE2	23	75004819	Missense_Mutation	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	21549493	75004819	80265741	159	86116											
RIPPLY1	92129	broad.mit.edu	37	chrX	106144027	106144027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcctcttcttcttcGctgtctgagtcctcgtatag	4	18	6	13	2	6	1	1	1	5	0	10	1	8	1	2	0	0	2	2	0	2	6			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:106144027G>A	ENST00000276173.4	-	4	437	c.408C>T	c.(406-408)agC>agT	p.S136S	RIPPLY1_ENST00000411805.1_Silent_p.S89S|CLDN2_ENST00000541806.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	136					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						cttcttcttcGCTGTCTGAGT	0.502													9	24					0	0	0	0	A	106144027	G	A	106144027	2	1	436	1	0	0	0	0	0	0	0	1	13469	1078	38	1		1	RIPPLY1	23	106144027	Silent	SNP	G	TCGA-IQ-A61I-01A-11D-A30E-08	31139208	106144027	49126533	160	86117											
COL4A6	1288	broad.mit.edu	37	chrX	107400293	107400293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagctgcccagctttcagCgtttcagacacaggcaactc	9	9	10	13	1	2	1	2	0	0	1	3	2	2	2	1	2	5	4	1	2	1	2			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:107400293C>T	ENST00000394872.2	-	45	5244	c.5013G>A	c.(5011-5013)acG>acA	p.T1671T	COL4A6_ENST00000538570.1_Silent_p.T1613T|COL4A6_ENST00000545689.1_Silent_p.T1646T|COL4A6_ENST00000418180.1_Silent_p.T205T|COL4A6_ENST00000372216.4_Silent_p.T1671T|COL4A6_ENST00000334504.7_Silent_p.T1670T			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1671	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGCTTTCAGCGTTTCAGACA	0.582									Alport syndrome with Diffuse Leiomyomatosis				40	55					0	0	0	0	T	107400293	C	T	107400293	2	4	436	1	0	0	0	0	0	0	0	1	3725	755	27	1		1	COL4A6	23	107400293	Silent	SNP	C	TCGA-IQ-A61I-01A-11D-A30E-08	1256266	107400293	47870267	161	86118											
RPS6KA1	6195	broad.mit.edu	37	chr1	26887335	26887335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccaacatggagtatgCtgtcaaggtgggcctcctga	9	8	13	11	0	1	1	1	1	0	0	2	2	2	2	4	4	2	2	4	4	3	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:26887335C>T	ENST00000374168.2	+	15	1488	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.A429V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.A353V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.A353V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.A434V|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.A454V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	445	Protein kinase 2.				axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATGGAGTATGCTGTCAAGGTG	0.592													4	94					0	0	0	0	T	26887335	C	T	26887335	3	4	437	1	0	0	0	0	1	0	0	0	13735	797	28	4	1531	4	RPS6KA1	1	26887335	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08		26887335	222363286	1	86119											
NTNG1	22854	broad.mit.edu	37	chr1	107979367	107979367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtaagactggaacaacaGggcctaagtgtgatgagtgt	13	9	14	5	0	0	3	0	2	0	1	0	4	0	4	1	2	2	1	1	2	4	2			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:107979367G>A	ENST00000370068.1	+	7	2182	c.1336G>A	c.(1336-1338)Ggg>Agg	p.G446R	NTNG1_ENST00000542803.1_Missense_Mutation_p.G446R|NTNG1_ENST00000370061.3_Missense_Mutation_p.G412R|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.G446R			Q9Y2I2	NTNG1_HUMAN	netrin G1	446	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TGGAACAACAGGGCCTAAGTG	0.493													9	44					0	0	0	0	A	107979367	G	A	107979367	3	1	437	1	0	0	0	0	1	0	0	0	10775	1000	35	4	1492	4	NTNG1	1	107979367	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	81092032	107979367	141271254	2	86120											
RPTN	126638	broad.mit.edu	37	chr1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtgggaactctggcctTgtctgtctgtctgaccgtag																										TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)aafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													7	1288	---	---	---	---					-	152128280	TGTC	-	152128277	7	5	437	1	0	1	0	1	0	0	0	0	13749	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-IQ-A61J-01A-11D-A30E-08	44148910	152128277	97122344	3	86121											
DARS2	55157	broad.mit.edu	37	chr1	173822554	173822554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaggagtggtgctccGtgaccccactctgttctctt	8	11	10	12	1	2	2	0	1	2	1	4	3	3	3	3	2	2	2	3	2	2	2			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:173822554G>A	ENST00000361951.4	+	14	2139	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	DARS2_ENST00000239457.5_Missense_Mutation_p.R53H|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	471					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GTGGTGCTCCGTGACCCCACT	0.478													28	139					0	0	0	0	A	173822554	G	A	173822554	3	1	437	1	0	0	0	0	1	0	0	0	4275	1145	40	1	1466	1	DARS2	1	173822554	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	21694277	173822554	75428067	4	86122											
TRIB2	28951	broad.mit.edu	37	chr2	12880670	12880670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgacattgaacccagctCcctcttcagcaagatccggc	10	8	7	16	1	2	3	1	2	1	1	4	3	4	3	4	1	3	2	4	1	2	2			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:12880670C>T	ENST00000155926.4	+	3	2201	c.782C>T	c.(781-783)tCc>tTc	p.S261F	TRIB2_ENST00000381465.2_Missense_Mutation_p.S125F	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	261	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAACCCAGCTCCCTCTTCAGC	0.597													11	47					0	0	0	0	T	12880670	C	T	12880670	3	4	437	1	0	0	0	0	1	0	0	0	16578	855	30	2	792	2	TRIB2	2	12880670	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08		12880670	230318703	5	86123											
FAM179A	165186	broad.mit.edu	37	chr2	29268247	29268247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtttcctgagtggccgtgCggtgctggatgtcacagatc	5	11	15	10	3	1	2	1	1	0	1	3	3	2	3	2	3	2	2	2	3	0	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:29268247C>T	ENST00000379558.4	+	19	3044	c.2693C>T	c.(2692-2694)gCg>gTg	p.A898V	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A843V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	898							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGTGGCCGTGCGGTGCTGGAT	0.607													4	110					0	0	0	0	T	29268247	C	T	29268247	3	4	437	1	0	0	0	0	1	0	0	0	5546	768	27	1	2763	1	FAM179A	2	29268247	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	16387577	29268247	213931126	6	86124											
ABCG8	64241	broad.mit.edu	37	chr2	44078907	44078907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcgagagaccttggccttCattgcccagatgcggctgcc	6	9	13	13	2	1	2	1	0	0	2	1	4	1	2	4	2	4	1	4	2	0	3			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:44078907C>T	ENST00000272286.2	+	4	597	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	169	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTTGGCCTTCATTGCCCAGA	0.617													5	186					0	0	0	0	T	44078907	C	T	44078907	2	4	437	1	0	0	0	0	0	0	0	1	72	825	29	2		2	ABCG8	2	44078907	Silent	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	14810660	44078907	199120466	7	86125											
MBD5	55777	broad.mit.edu	37	chr2	149247884	149247886	+	In_Frame_Del	DEL	TCT	TCT	-																															tcaaatagtttggaaaattcTctggtcaaagactacatcca																										TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:149247884_149247886delTCT	ENST00000407073.1	+	12	4981_4983	c.3984_3986delTCT	c.(3982-3987)tcg>tc	p.SL1328del	MBD5_ENST00000404807.1_In_Frame_Del_p.SL1561del	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1328						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGAAAATTCTCTGGTCAAAGAC	0.448													11	56	---	---	---	---					-	149247886	TCT	-	149247884	7	5	437	1	0	1	0	1	0	0	0	0	9416	1538	54	0	4010	0	MBD5	2	149247884	In_Frame_Del	DEL	TCT	TCGA-IQ-A61J-01A-11D-A30E-08	105168977	149247884	93951489	8	86126											
NEB	4703	broad.mit.edu	37	chr2	152500621	152500621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggccgagctgcttgCgaaagccttccttgtacttg	5	13	13	10	2	0	0	0	0	0	0	1	2	1	0	3	2	5	3	3	2	2	5			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:152500621C>T	ENST00000427231.2	-	57	7869	c.7667G>A	c.(7666-7668)cGc>cAc	p.R2556H	NEB_ENST00000603639.1_Missense_Mutation_p.R2556H|NEB_ENST00000604864.1_Missense_Mutation_p.R2556H|NEB_ENST00000172853.10_Missense_Mutation_p.R2556H|NEB_ENST00000409198.1_Missense_Mutation_p.R2556H|NEB_ENST00000397345.3_Missense_Mutation_p.R2556H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2556					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCTGCTTGCGAAAGCCTTC	0.453													66	261					0	0	0	0	T	152500621	C	T	152500621	3	4	437	1	0	0	0	0	1	0	0	0	10372	768	27	1	18523	1	NEB	2	152500621	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	3252737	152500621	90698752	9	86127											
TGFBR2	7048	broad.mit.edu	37	chr3	30729917	30729917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catttggttccaaggtgcggGagcacccctgtgtcgaaagc	8	9	13	11	2	0	0	0	0	0	0	2	2	1	1	3	3	3	2	3	3	2	2			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:30729917G>T	ENST00000295754.5	+	6	1820	c.1438G>T	c.(1438-1440)Gag>Tag	p.E480*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E505*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	480	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGGTGCGGGAGCACCCCTG	0.507													31	83					6.00712e-18	6.67458e-18	1	0	T	30729917	G	T	30729917	4	4	437	1	0	0	0	0	0	1	0	0	15916	1175	41	2	1539	2	TGFBR2	3	30729917	Nonsense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		30729917	167292513	10	86128											
GORASP1	64689	broad.mit.edu	37	chr3	39142261	39142261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctccaccccaggctgcGttgggagttacagtcacctc	6	9	9	17	1	2	0	1	0	1	0	4	1	2	1	5	2	2	3	5	2	1	2			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:39142261G>A	ENST00000319283.3	-	5	1364	c.543C>T	c.(541-543)aaC>aaT	p.N181N	GORASP1_ENST00000479927.1_Silent_p.N86N|GORASP1_ENST00000422110.2_Intron	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	181					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCAGGCTGCGTTGGGAGTTA	0.582											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	179					0	0	0	0	A	39142261	G	A	39142261	2	1	437	1	0	0	0	0	0	0	0	1	6623	1136	40	1		1	GORASP1	3	39142261	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	8412344	39142261	158880169	11	86129											
XIRP1	165904	broad.mit.edu	37	chr3	39225527	39225527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggggaggcgtggagccCgaggtgggagcctgggttcc	6	5	21	9	2	0	0	0	0	0	0	1	4	1	3	3	7	2	1	3	7	1	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:39225527C>T	ENST00000340369.3	-	2	5638	c.5410G>A	c.(5410-5412)Ggg>Agg	p.G1804R	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.G487R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1804	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCGTGGAGCCCGAGGTGGGAG	0.612													24	78					0	0	0	0	T	39225527	C	T	39225527	3	4	437	1	0	0	0	0	1	0	0	0	17525	652	23	1	125	1	XIRP1	3	39225527	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	83266	39225527	158796903	12	86130											
FEZF2	55079	broad.mit.edu	37	chr3	62355884	62355884	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgccgcaagtggcgcaCgtgaaaggcttcttgtcgtt	6	12	12	11	4	1	1	0	1	1	0	2	1	1	1	2	2	1	4	2	2	2	4			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:62355884C>T	ENST00000283268.3	-	5	1548	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	FEZF2_ENST00000475839.1_Silent_p.T418T|FEZF2_ENST00000486811.1_Silent_p.T418T	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	418					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AAGTGGCGCACGTGAAAGGCT	0.527													4	192					0	0	0	0	T	62355884	C	T	62355884	2	4	437	1	0	0	0	0	0	0	0	1	5871	523	19	1		1	FEZF2	3	62355884	Silent	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	23130357	62355884	135666546	13	86131											
FEZF2	55079	broad.mit.edu	37	chr3	62356914	62356914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttggtgaaagcctttgccGcaaaattcgcagacgaaggg	11	10	12	8	3	0	2	0	1	0	1	1	3	0	2	2	2	2	2	2	2	4	4			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:62356914G>A	ENST00000283268.3	-	4	1392	c.1098C>T	c.(1096-1098)tgC>tgT	p.C366C	FEZF2_ENST00000475839.1_Silent_p.C366C|FEZF2_ENST00000486811.1_Silent_p.C366C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	366					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AGCCTTTGCCGCAAAATTCGC	0.572													4	88					0	0	0	0	A	62356914	G	A	62356914	2	1	437	1	0	0	0	0	0	0	0	1	5871	1079	38	1		1	FEZF2	3	62356914	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	1030	62356914	135665516	14	86132											
OR5K1	26339	broad.mit.edu	37	chr3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggttagttttctgtggatCgaatcacatcaaccactttt	10	16	7	8	1	3	0	2	0	1	0	4	2	3	1	1	2	1	2	1	2	4	6			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:98188932C>T	ENST00000332650.5	+	1	609	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398													35	190					0	0	0	0	T	98188932	C	T	98188932	3	4	437	1	0	0	0	0	1	0	0	0	11237	893	31	1	514	1	OR5K1	3	98188932	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	35832018	98188932	99833498	15	86133			1	133		2	2	31	N	T_C	6.008203e-05
OR5K1	26339	broad.mit.edu	37	chr3	98188962	98188962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccacttttactgtgataTtcttcccttgtatagactct	9	17	4	11	0	2	2	0	1	2	1	3	2	3	2	2	0	2	1	2	0	5	8			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:98188962T>C	ENST00000332650.5	+	1	639	c.542T>C	c.(541-543)aTt>aCt	p.I181T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACTGTGATATTCTTCCCTTG	0.388													52	168					0	0	0	0	C	98188962	T	C	98188962	3	2	437	1	0	0	0	0	1	0	0	0	11237	1493	52	5	544	5	OR5K1	3	98188962	Missense_Mutation	SNP	T	TCGA-IQ-A61J-01A-11D-A30E-08	30	98188962	99833468	16	86134			1	133		2	2	31	N	T_C	6.008203e-05
KIAA1211	57482	broad.mit.edu	37	chr4	57180310	57180310	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgaagaggaacccaatccGctggattccgaggaagagag	14	4	13	10	3	0	2	0	0	0	2	2	8	2	5	3	3	1	1	3	3	4	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr4:57180310G>A	ENST00000504228.1	+	6	747	c.642G>A	c.(640-642)ccG>ccA	p.P214P	KIAA1211_ENST00000264229.6_Silent_p.P214P|KIAA1211_ENST00000541073.1_Silent_p.P207P			Q6ZU35	K1211_HUMAN	KIAA1211	214	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AACCCAATCCGCTGGATTCCG	0.602													12	20					0	0	0	0	A	57180310	G	A	57180310	2	1	437	1	0	0	0	0	0	0	0	1	8266	1074	38	1		1	KIAA1211	4	57180310	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		57180310	133973966	17	86135											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798045	140798045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaccgagaaacgcagagcGctcaccacttggtactgacc	11	6	11	13	3	1	3	1	1	0	2	1	5	1	4	3	2	3	3	3	2	2	2			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr5:140798045G>A	ENST00000398594.2	+	1	619	c.619G>A	c.(619-621)Gct>Act	p.A207T	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCAGAGCGCTCACCACTT	0.498													39	52					0	0	0	0	A	140798045	G	A	140798045	3	1	437	1	0	0	0	0	1	0	0	0	11639	1087	38	1	621	1	PCDHGB7	5	140798045	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		140798045	40117215	18	86136											
DOK3	79930	broad.mit.edu	37	chr5	176935363	176935363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcagctctcgccgtcagCcggcagcacggacacacagt	8	4	14	15	4	2	0	1	0	1	0	3	1	2	1	2	4	3	4	2	4	0	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr5:176935363C>T	ENST00000312943.6	-	3	407	c.247G>A	c.(247-249)Gct>Act	p.A83T	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000501403.2_Missense_Mutation_p.A83T|DOK3_ENST00000357198.4_Missense_Mutation_p.A139T	NM_001144875.1	NP_001138347.1	Q7L591	DOK3_HUMAN	docking protein 3	139	PH.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCGCCGTCAGCCGGCAGCACG	0.711													3	29					0	0	0	0	T	176935363	C	T	176935363	3	4	437	1	0	0	0	0	1	0	0	0	4734	739	26	4	1443	4	DOK3	5	176935363	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	36137318	176935363	3979897	19	86137											
DNAH8	1769	broad.mit.edu	37	chr6	38840417	38840417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcgcaaacagaatgcGgaaggcctcatagagaaatg	16	5	13	7	2	1	3	1	1	0	2	1	5	1	4	1	3	2	1	1	3	6	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr6:38840417G>A	ENST00000359357.3	+	48	6699	c.6445G>A	c.(6445-6447)Gga>Aga	p.G2149R	DNAH8_ENST00000441566.1_Missense_Mutation_p.G2113R|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2366R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAGAATGCGGAAGGCCTCA	0.483													15	70					0	0	0	0	A	38840417	G	A	38840417	3	1	437	1	0	0	0	0	1	0	0	0	4643	1117	39	1	6627	1	DNAH8	6	38840417	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		38840417	132274650	20	86138											
C6orf118	168090	broad.mit.edu	37	chr6	165715617	165715617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggtagagcttgttggggTtcaggtgtccagagatgtag	7	12	17	5	0	1	2	1	0	0	2	2	3	2	2	1	4	1	6	1	4	2	5			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr6:165715617T>C	ENST00000230301.8	-	2	214	c.194A>G	c.(193-195)aAc>aGc	p.N65S	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	65										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)		CTTGTTGGGGTTCAGGTGTCC	0.592													27	122					0	0	0	0	C	165715617	T	C	165715617	3	2	437	1	0	0	0	0	1	0	0	0	2344	1725	60	5	1247	5	C6orf118	6	165715617	Missense_Mutation	SNP	T	TCGA-IQ-A61J-01A-11D-A30E-08	126875200	165715617	5399450	21	86139											
PRKAR1B	5575	broad.mit.edu	37	chr7	618913	618913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgtgatgatgtaaaagtCgtccccaggctctccctgga	8	10	10	13	2	1	2	0	2	1	0	5	3	3	3	4	2	0	2	4	2	2	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr7:618913C>T	ENST00000406797.1	-	9	1045	c.871G>A	c.(871-873)Gac>Aac	p.D291N	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.D291N	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	291					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ATGTAAAAGTCGTCCCCAGGC	0.602													44	152					0	0	0	0	T	618913	C	T	618913	3	4	437	1	0	0	0	0	1	0	0	0	12584	884	31	1	286	1	PRKAR1B	7	618913	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08		618913	158519750	22	86140											
CARD11	84433	broad.mit.edu	37	chr7	2946453	2946453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcaggaactcctcctccGtctcaggtcggggcagcagc	6	6	13	16	4	1	0	1	0	1	0	6	1	4	1	3	4	3	3	3	4	1	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr7:2946453G>A	ENST00000396946.4	-	25	3687	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1095	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCTCCTCCGTCTCAGGTCG	0.682			Mis		DLBCL								15	25					0	0	0	0	A	2946453	G	A	2946453	3	1	437	1	0	0	0	0	1	0	0	0	2670	1145	40	1	184	1	CARD11	7	2946453	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	2327540	2946453	156192210	23	86141											
PLXNA4	91584	broad.mit.edu	37	chr7	131883335	131883335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgaaattccaggcccaGgttctcccctcggatagtga	8	9	11	13	3	1	1	0	1	1	0	5	3	2	2	4	3	0	1	4	3	2	3			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr7:131883335G>A	ENST00000359827.3	-	13	3609	c.2647C>T	c.(2647-2649)Ctg>Ttg	p.L883L	PLXNA4_ENST00000321063.4_Silent_p.L883L			Q9HCM2	PLXA4_HUMAN	plexin A4	883	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCAGGCCCAGGTTCTCCCCT	0.542													17	54					0	0	0	0	A	131883335	G	A	131883335	2	1	437	1	0	0	0	0	0	0	0	1	12194	991	35	4		4	PLXNA4	7	131883335	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	128936882	131883335	27255328	24	86142											
UBR5	51366	broad.mit.edu	37	chr8	103359213	103359213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccagaccctcgatccCgtcctgtccgaataactcga	11	7	7	16	4	0	1	0	0	0	1	5	4	3	1	5	0	2	0	5	0	3	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr8:103359213C>T	ENST00000520539.1	-	6	1100	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	UBR5_ENST00000220959.4_Missense_Mutation_p.R165Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R165Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	165					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCTCGATCCCGTCCTGTCCG	0.557													4	183					0	0	0	0	T	103359213	C	T	103359213	3	4	437	1	0	0	0	0	1	0	0	0	17001	652	23	1	8121	1	UBR5	8	103359213	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08		103359213	43004809	25	86143											
TRPM3	80036	broad.mit.edu	37	chr9	73151480	73151480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagggtgtggtggctaGgtagcggctacttttggaac	10	10	16	5	1	0	1	0	0	0	1	0	2	0	2	0	6	3	3	0	6	6	5			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr9:73151480G>T	ENST00000377110.2	-	25	4756	c.4513C>A	c.(4513-4515)Cta>Ata	p.L1505I	TRPM3_ENST00000423814.3_Missense_Mutation_p.L1532I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L1364I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L1364I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L1354I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Missense_Mutation_p.L1364I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L1377I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L1367I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L1377I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L1509I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L1367I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1530						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGGTGGCTAGGTAGCGGCTA	0.498													9	84					0.000673444	0.000681969	1	0	T	73151480	G	T	73151480	3	4	437	1	0	0	0	0	1	0	0	0	16682	991	35	4	614	4	TRPM3	9	73151480	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		73151480	68061951	26	86144											
LAMC3	10319	broad.mit.edu	37	chr9	133917079	133917079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgacccccgcagtgggCgctgcccctgcaaagagaat	8	6	12	15	2	0	2	0	1	0	1	0	3	0	2	5	1	2	3	5	1	2	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr9:133917079C>T	ENST00000361069.4	+	7	1472	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	447	Laminin EGF-like 4.				cell adhesion	basement membrane|membrane	structural molecule activity	p.R447C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGCAGTGGGCGCTGCCCCTG	0.547													12	30					0	0	0	0	T	133917079	C	T	133917079	3	4	437	1	0	0	0	0	1	0	0	0	8669	768	27	1	1365	1	LAMC3	9	133917079	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	60765599	133917079	7296352	27	86145											
CDK2AP2	10263	broad.mit.edu	37	chr11	67275483	67275483	+	Frame_Shift_Del	DEL	G	G	-																															gatcctcacctgtagggaccGgggtgcccggcccaggggtg																										TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr11:67275483delG	ENST00000301488.3	-	1	619	c.71delC	c.(70-72)cgfs	p.P24fs	CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P24fs	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	24										lung(1)	1						TGTAGGGACCGGGGTGCCCGG	0.692													2	4	---	---	---	---					-	67275483	G	-	67275483	7	5	437	1	0	1	0	1	0	0	0	0	3168	1116	39	0	325	0	CDK2AP2	11	67275483	Frame_Shift_Del	DEL	G	TCGA-IQ-A61J-01A-11D-A30E-08		67275483	67731033	28	86146											
RELT	84957	broad.mit.edu	37	chr11	73105607	73105607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcctggcctcgctctctGgcccctgctgctcccgctgt	1	10	12	18	2	1	0	0	0	1	0	4	0	2	0	5	3	2	4	5	3	0	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr11:73105607G>A	ENST00000064780.2	+	9	1135	c.874G>A	c.(874-876)Ggc>Agc	p.G292S	RELT_ENST00000393580.2_Missense_Mutation_p.G292S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	292						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CTCGCTCTCTGGCCCCTGCTG	0.682													13	177					0	0	0	0	A	73105607	G	A	73105607	3	1	437	1	0	0	0	0	1	0	0	0	13303	1348	47	4	904	4	RELT	11	73105607	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	5830124	73105607	61900909	29	86147											
MMP20	9313	broad.mit.edu	37	chr11	102449821	102449821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttactcctgaaaattcttCttcagtattctttggatagt	10	19	5	7	0	4	1	1	1	3	0	5	2	5	2	1	1	1	1	1	1	5	9			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr11:102449821C>T	ENST00000260228.2	-	9	1312	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	434	Hemopexin-like 3.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAAAATTCTTCTTCAGTATTC	0.299													40	54					0	0	0	0	T	102449821	C	T	102449821	3	4	437	1	0	0	0	0	1	0	0	0	9728	922	32	2	159	2	MMP20	11	102449821	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	29344214	102449821	32556695	30	86148											
C12orf60	144608	broad.mit.edu	37	chr12	14976229	14976229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaaaagtgcccatacGccagtcatcatctctgtgct	10	12	7	12	1	4	0	3	0	1	0	5	0	4	0	2	0	3	2	2	0	4	3			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr12:14976229G>A	ENST00000330828.2	+	2	564	c.360G>A	c.(358-360)acG>acA	p.T120T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTGCCCATACGCCAGTCATCA	0.428													26	104					0	0	0	0	A	14976229	G	A	14976229	2	1	437	1	0	0	0	0	0	0	0	1	1715	1074	38	1		1	C12orf60	12	14976229	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		14976229	118875666	31	86149											
PCDH9	5101	broad.mit.edu	37	chr13	67801135	67801135	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacccacgtcggttgttttCagaaactgacagctcaatta	12	12	7	10	2	2	2	2	1	0	1	3	2	2	2	1	1	3	3	1	1	4	5			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr13:67801135C>A	ENST00000544246.1	-	2	2129	c.1438G>T	c.(1438-1440)Gaa>Taa	p.E480*	PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E480*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.E480*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E480*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E480*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGTTGTTTTCAGAAACTGAC	0.433													20	73					5.26018e-13	5.68668e-13	1	0	A	67801135	C	A	67801135	4	1	437	1	0	0	0	0	0	1	0	0	11589	835	29	2	2291	2	PCDH9	13	67801135	Nonsense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08		67801135	47368743	32	86150											
STK24	8428	broad.mit.edu	37	chr13	99171637	99171637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaaccactttctgagtccGattgtcaatgcctttgaaca	10	12	8	11	1	2	2	1	2	1	0	3	3	3	2	3	1	3	1	3	1	3	3			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr13:99171637G>A	ENST00000397517.2	-	2	209	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	STK24_ENST00000481288.1_5'UTR|STK24_ENST00000376547.3_Missense_Mutation_p.R57W|STK24_ENST00000539966.1_Missense_Mutation_p.R45W	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	57	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTCTGAGTCCGATTGTCAATG	0.428													5	245					0	0	0	0	A	99171637	G	A	99171637	3	1	437	1	0	0	0	0	1	0	0	0	15383	1057	37	1	1202	1	STK24	13	99171637	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	31370502	99171637	15998241	33	86151											
PTGDR	5729	broad.mit.edu	37	chr14	52734574	52734574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaacaccacctctgtGgaaaaaggcaactcggcggt	12	6	11	12	2	1	1	0	0	1	1	2	2	1	2	3	4	3	1	3	4	4	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr14:52734574G>A	ENST00000306051.2	+	1	144	c.42G>A	c.(40-42)gtG>gtA	p.V14V	PTGDR_ENST00000553372.1_Silent_p.V14V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	14						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCACCTCTGTGGAAAAAGGCA	0.701													10	16					0	0	0	0	A	52734574	G	A	52734574	2	1	437	1	0	0	0	0	0	0	0	1	12820	1335	47	4		4	PTGDR	14	52734574	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		52734574	54614966	34	86152											
COQ6	51004	broad.mit.edu	37	chr14	74426211	74426211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaaatttgtggatgccGttaactctgcctttgtgagt	10	14	11	6	1	1	1	0	1	1	0	1	3	1	3	2	2	3	1	2	2	3	3			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr14:74426211G>A	ENST00000334571.2	+	8	917	c.877G>A	c.(877-879)Gtt>Att	p.V293I	COQ6_ENST00000238709.4_Missense_Mutation_p.V218I|COQ6_ENST00000394026.4_Missense_Mutation_p.V268I|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000557780.1_3'UTR	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	293					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TGTGGATGCCGTTAACTCTGC	0.448													4	170					0	0	0	0	A	74426211	G	A	74426211	3	1	437	1	0	0	0	0	1	0	0	0	3779	1145	40	1	907	1	COQ6	14	74426211	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	21691637	74426211	32923329	35	86153											
VPS13C	54832	broad.mit.edu	37	chr15	62316042	62316042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgctttttacgtttacGtccttcacagtggaagcatt	7	18	8	8	2	1	0	1	0	0	0	2	1	2	1	1	1	4	3	1	1	3	8			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr15:62316042G>A	ENST00000261517.5	-	7	524	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Missense_Mutation_p.R151C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	151	Lys-rich.				protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTACGTTTACGTCCTTCACAG	0.328													6	47					0	0	0	0	A	62316042	G	A	62316042	3	1	437	1	0	0	0	0	1	0	0	0	17287	1145	40	1	11154	1	VPS13C	15	62316042	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		62316042	40215350	36	86154											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954808	72954808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaggtgcagagagtgCgggagcaggagagactgtgt	11	5	20	5	1	0	2	0	0	0	2	0	7	0	5	0	4	4	3	0	4	0	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr15:72954808C>T	ENST00000421285.3	+	11	1063	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	355										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GCAGAGAGTGCGGGAGCAGGA	0.567													5	405					0	0	0	0	T	72954808	C	T	72954808	3	4	437	1	0	0	0	0	1	0	0	0	6609	759	27	1	1105	1	GOLGA6B	15	72954808	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	10638766	72954808	29576584	37	86155											
ALPK3	57538	broad.mit.edu	37	chr15	85383935	85383935	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgaccccccagccgacTaggcctttcaacagaaagag	11	7	8	15	1	1	3	1	1	0	2	2	4	2	3	6	1	2	0	6	1	3	3			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr15:85383935T>G	ENST00000258888.5	+	5	2198	c.2031T>G	c.(2029-2031)acT>acG	p.T677T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	677					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCAGCCGACTAGGCCTTTCA	0.607													13	74					0	0	0	0	G	85383935	T	G	85383935	2	3	437	1	0	0	0	0	0	0	0	1	546	1509	53	5		5	ALPK3	15	85383935	Silent	SNP	T	TCGA-IQ-A61J-01A-11D-A30E-08	12429127	85383935	17147457	38	86156											
CACNA1H	8912	broad.mit.edu	37	chr16	1270859	1270859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacccccagaatcagaGcctcccatgcccgtcggtga	9	6	10	16	2	1	3	1	1	0	2	3	4	2	4	5	2	3	0	5	2	2	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:1270859G>T	ENST00000348261.5	+	35	7175	c.6927G>T	c.(6925-6927)gaG>gaT	p.E2309D	CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2303D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2303D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2309					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CAGAATCAGAGCCTCCCATGC	0.632													42	143					1.02067e-35	1.16648e-35	1	0	T	1270859	G	T	1270859	3	4	437	1	0	0	0	0	1	0	0	0	2570	962	34	4	7061	4	CACNA1H	16	1270859	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		1270859	89083894	39	86157											
PPL	5493	broad.mit.edu	37	chr16	4934643	4934643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagagctcctcctctttcCgggcgatctgctcttcctgg	3	12	11	15	3	3	1	0	0	3	1	7	3	7	1	4	2	2	2	4	2	0	2	rs150735451	by1000genomes	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:4934643C>T	ENST00000345988.2	-	22	4102	c.4013G>A	c.(4012-4014)cGg>cAg	p.R1338Q	PPL_ENST00000590782.2_Missense_Mutation_p.R1336Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1338					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTCCTCTTTCCGGGCGATCTG	0.607													5	451					0	0	0	0	T	4934643	C	T	4934643	3	4	437	1	0	0	0	0	1	0	0	0	12410	652	23	1	1261	1	PPL	16	4934643	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	3663784	4934643	85420110	40	86158											
TOX3	27324	broad.mit.edu	37	chr16	52484404	52484404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatgtggacgatggaccGcatgatcagggagggatcct	9	8	16	8	2	2	1	2	1	0	0	3	6	3	5	2	5	0	1	2	5	0	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:52484404G>A	ENST00000219746.9	-	4	747	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	TOX3_ENST00000407228.3_Missense_Mutation_p.R150W	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	155					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.R155W(1)|p.R150W(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ACGATGGACCGCATGATCAGG	0.562													5	122					0	0	0	0	A	52484404	G	A	52484404	3	1	437	1	0	0	0	0	1	0	0	0	16474	1086	38	1	1283	1	TOX3	16	52484404	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	47549761	52484404	37870349	41	86159											
CBFA2T3	863	broad.mit.edu	37	chr16	88945792	88945792	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggtgatgagctcgtgCgctttgcgctccgcgtccga	3	11	14	13	7	0	2	0	2	0	0	4	3	3	2	3	1	3	3	3	1	0	1	rs141897085	by1000genomes	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:88945792C>A	ENST00000268679.4	-	11	1944	c.1548G>T	c.(1546-1548)gcG>gcT	p.A516A	CBFA2T3_ENST00000436887.2_Silent_p.A478A|CBFA2T3_ENST00000327483.5_Silent_p.A430A|CBFA2T3_ENST00000360302.2_Silent_p.A430A|CBFA2T3_ENST00000448839.1_Silent_p.A440A	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	516					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGAGCTCGTGCGCTTTGCGCT	0.662			T	RUNX1	AML								6	69					5.9392e-07	6.25179e-07	1	0	A	88945792	C	A	88945792	2	1	437	1	0	0	0	0	0	0	0	1	2723	755	27	3		3	CBFA2T3	16	88945792	Silent	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	36461388	88945792	1408961	42	86160											
FAM64A	54478	broad.mit.edu	37	chr17	6350972	6350972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggagaaggagcatcacCgcctctctgtccggatgggc	7	7	14	13	2	2	1	1	0	1	1	4	4	3	3	4	4	1	1	4	4	1	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr17:6350972C>T	ENST00000572447.1	+	3	593	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	FAM64A_ENST00000571373.1_Missense_Mutation_p.R162C|FAM64A_ENST00000250056.8_Missense_Mutation_p.R162C|FAM64A_ENST00000572595.2_Missense_Mutation_p.R193C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R162C|FAM64A_ENST00000576056.1_Missense_Mutation_p.R162C	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	162						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGAGCATCACCGCCTCTCTGT	0.657													3	24					0	0	0	0	T	6350972	C	T	6350972	3	4	437	1	0	0	0	0	1	0	0	0	5644	652	23	1	490	1	FAM64A	17	6350972	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08		6350972	74844238	43	86161											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs68140816		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr17:7579311C>A	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			41	69					6.45866e-13	6.88924e-13	1	0	A	7579311	C	A	7579311	5	1	437	1	0	0	0	0	0	0	1	0	16476	521	18	4	926	4	TP53	17	7579311	Splice_Site	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	1228339	7579311	73615899	44	86162											
MYH2	4620	broad.mit.edu	37	chr17	10428832	10428832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagattcctcataggcattCtttatcttgaacagctcagt	12	14	6	9	0	4	2	2	1	2	1	5	2	5	2	1	1	2	2	1	1	4	6			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr17:10428832C>G	ENST00000245503.5	-	32	4857	c.4473G>C	c.(4471-4473)aaG>aaC	p.K1491N	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1491N|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1491					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATAGGCATTCTTTATCTTGA	0.443													7	96					0	0	0	0	G	10428832	C	G	10428832	3	3	437	1	0	0	0	0	1	0	0	0	10105	912	32	2	1388	2	MYH2	17	10428832	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	2849521	10428832	70766378	45	86163											
C17orf82	388407	broad.mit.edu	37	chr17	59489575	59489575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctcttgggaggaagccCgagctccgggtctcctgggc	4	7	15	15	3	2	0	0	0	2	0	4	3	3	2	4	4	2	1	4	4	1	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr17:59489575C>G	ENST00000335108.2	+	1	464	c.239C>G	c.(238-240)cCg>cGg	p.P80R		NM_203425.1	NP_982249.1	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	80										cervix(1)|lung(1)	2						GGAGGAAGCCCGAGCTCCGGG	0.746											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	13					0	0	0	0	G	59489575	C	G	59489575	3	3	437	1	0	0	0	0	1	0	0	0	1903	652	23	3	241	3	C17orf82	17	59489575	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	49060743	59489575	21705635	46	86164											
ALPK2	115701	broad.mit.edu	37	chr18	56204171	56204171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgcaggacatggtgtGggactcctggcacactgggt	7	8	17	9	0	0	0	0	0	0	0	1	3	1	3	1	6	2	3	1	6	0	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr18:56204171G>T	ENST00000361673.3	-	5	3461	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1083							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GACATGGTGTGGGACTCCTGG	0.493													37	144					6.02846e-25	6.79263e-25	1	0	T	56204171	G	T	56204171	3	4	437	1	0	0	0	0	1	0	0	0	545	1348	47	4	3300	4	ALPK2	18	56204171	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		56204171	21873077	47	86165											
SLC39A3	29985	broad.mit.edu	37	chr19	2732937	2732937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccggcacgccctgggCgctctcaatgcccaggccca	5	5	12	19	3	1	0	1	0	1	0	2	0	1	0	4	3	2	3	4	3	1	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:2732937C>A	ENST00000269740.4	-	3	1086	c.757G>T	c.(757-759)Gcc>Tcc	p.A253S	SLC39A3_ENST00000545664.1_Missense_Mutation_p.A253S|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	253						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		ACGCCCTGGGCGCTCTCAATG	0.711													8	68					0.000157383	0.000161419	1	0	A	2732937	C	A	2732937	3	1	437	1	0	0	0	0	1	0	0	0	14707	768	27	3	191	3	SLC39A3	19	2732937	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08		2732937	56396046	48	86166											
PLIN5	440503	broad.mit.edu	37	chr19	4523694	4523694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctctctgctgggccGgccagtccaggtgcgcccag	4	6	14	17	2	1	0	0	0	1	0	3	0	2	0	5	4	2	2	5	4	0	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:4523694G>A	ENST00000381848.3	-	8	1318	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	413						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CTGCTGGGCCGGCCAGTCCAG	0.706													47	180					0	0	0	0	A	4523694	G	A	4523694	3	1	437	1	0	0	0	0	1	0	0	0	12165	1116	39	1	157	1	PLIN5	19	4523694	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	1790757	4523694	54605289	49	86167											
EPS15L1	58513	broad.mit.edu	37	chr19	16514682	16514682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttggctcggttcagatcGtcttcctgggactttaagtc	6	14	11	10	2	2	1	1	0	1	1	6	3	3	2	1	3	0	2	1	3	1	5	rs76985523	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:16514682G>A	ENST00000602009.1	-	9	1921	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	EPS15L1_ENST00000535753.2_Silent_p.D496D|EPS15L1_ENST00000597937.1_Silent_p.D496D|EPS15L1_ENST00000594975.1_Silent_p.D496D|EPS15L1_ENST00000455140.2_Silent_p.D496D|EPS15L1_ENST00000248070.6_Silent_p.D496D			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	496	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGTTCAGATCGTCTTCCTGGG	0.478													4	56					0	0	0	0	A	16514682	G	A	16514682	2	1	437	1	0	0	0	0	0	0	0	1	5231	1136	40	1		1	EPS15L1	19	16514682	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	11990988	16514682	42614301	50	86168											
ZNF208	7757	broad.mit.edu	37	chr19	22157111	22157111	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttatgtttagtaaggattGagaacttactaaaggctttg	12	15	9	5	0	0	1	0	1	0	1	0	3	0	2	1	2	2	3	1	2	7	8			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:22157111G>T	ENST00000397126.4	-	4	873	c.725C>A	c.(724-726)tCa>tAa	p.S242*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTAAGGATTGAGAACTTACT	0.368													11	53					3.03607e-14	3.3272e-14	1	0	T	22157111	G	T	22157111	4	4	437	1	0	0	0	0	0	1	0	0	17861	1294	45	2	3121	2	ZNF208	19	22157111	Nonsense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	5642429	22157111	36971872	51	86169											
PSG9	5678	broad.mit.edu	37	chr19	43766196	43766196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaccataggtagcttgcGtccagagtctcaggatcaca	11	9	9	12	1	2	1	2	0	1	1	5	2	4	2	3	2	2	2	3	2	2	3	rs150952802		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:43766196G>A	ENST00000244293.7	-	3	591	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000270077.3_Silent_p.D175D			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532													5	403					0	0	0	0	A	43766196	G	A	43766196	2	1	437	1	0	0	0	0	0	0	0	1	12741	1136	40	1		1	PSG9	19	43766196	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	21609085	43766196	15362787	52	86170											
KIR3DL2	3812	broad.mit.edu	37	chr19	55361943	55361943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcaccatgtcgctcacgGtcgtcagcatggcgtgcgtt	6	9	13	13	5	2	0	2	0	0	0	4	0	2	0	1	2	3	5	1	2	0	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:55361943G>A	ENST00000326321.3	+	1	46	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V5I|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	5					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTCGCTCACGGTCGTCAGCAT	0.607													27	59					0	0	0	0	A	55361943	G	A	55361943	3	1	437	1	0	0	0	0	1	0	0	0	8373	1261	44	4	15	4	KIR3DL2	19	55361943	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	11595747	55361943	3767040	53	86171											
PLCG1	5335	broad.mit.edu	37	chr20	39788394	39788394	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgaaaacgctgagcctGcaaggtgggagttaaggggg	10	6	17	8	2	0	2	0	2	0	0	0	3	0	3	2	4	3	3	2	4	4	1			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr20:39788394G>T	ENST00000373272.2	+	2	771	c.366G>T	c.(364-366)ctG>ctT	p.L122L	PLCG1_ENST00000373271.1_Silent_p.L122L|PLCG1_ENST00000244007.3_Silent_p.L122L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	122	PH 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGCTGAGCCTGCAAGGTGGGA	0.542													16	103					2.23348e-06	2.3205e-06	1	0	T	39788394	G	T	39788394	2	4	437	1	0	0	0	0	0	0	0	1	12107	1306	46	4		4	PLCG1	20	39788394	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		39788394	23237126	54	86172											
POTEH	23784	broad.mit.edu	37	chr22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgcccacgttgctcttgCcgctccccctgcaccaggcg	5	8	10	18	3	1	0	0	0	1	0	2	0	2	0	5	1	4	4	5	1	1	2			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr22:16287770C>T	ENST00000343518.6	-	1	167	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592													6	682					0	0	0	0	T	16287770	C	T	16287770	3	4	437	1	0	0	0	0	1	0	0	0	12339	739	26	4	1561	4	POTEH	22	16287770	Missense_Mutation	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08		16287770	35016796	55	86173											
VPREB1	7441	broad.mit.edu	37	chr22	22599470	22599470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgacatcggtgtgtacagCgtctactggtaccagcagag	10	9	12	10	2	1	2	0	1	1	1	2	2	1	2	1	2	5	3	1	2	3	3			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr22:22599470C>T	ENST00000403807.3	+	2	298	c.159C>T	c.(157-159)agC>agT	p.S53S	VPREB1_ENST00000302273.2_Silent_p.S52S			P12018	VPREB_HUMAN	pre-B lymphocyte 1	53	Complementarity-determining-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GTGTGTACAGCGTCTACTGGT	0.627													24	111					0	0	0	0	T	22599470	C	T	22599470	2	4	437	1	0	0	0	0	0	0	0	1	17282	767	27	1		1	VPREB1	22	22599470	Silent	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	6311700	22599470	28705096	56	86174											
CELSR1	9620	broad.mit.edu	37	chr22	46790148	46790148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagcctctggggcacGgaaggtcgagtctgtgggga	7	6	16	12	2	2	0	0	0	2	0	3	3	2	2	3	6	1	1	3	6	1	0			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr22:46790148G>A	ENST00000262738.3	-	14	5854	c.5855C>T	c.(5854-5856)cCg>cTg	p.P1952L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1952	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTGGGGCACGGAAGGTCGAG	0.562													3	48					0	0	0	0	A	46790148	G	A	46790148	3	1	437	1	0	0	0	0	1	0	0	0	3250	1116	39	1	3277	1	CELSR1	22	46790148	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	24190678	46790148	4514418	57	86175											
WWC3	55841	broad.mit.edu	37	chrX	10094266	10094266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagtgttcagaatccccGtgcattccagcgcgttgaca	10	9	10	12	4	1	2	1	1	0	1	3	3	3	2	3	0	2	3	3	0	2	3			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:10094266G>A	ENST00000380861.4	+	15	2417	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	WWC3_ENST00000454666.1_Missense_Mutation_p.V676M	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	676	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CAGAATCCCCGTGCATTCCAG	0.562													4	165					0	0	0	0	A	10094266	G	A	10094266	3	1	437	1	0	0	0	0	1	0	0	0	17509	1145	40	1	2080	1	WWC3	23	10094266	Missense_Mutation	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08		10094266	145176294	58	86176											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													3	35					0	0	0	0	A	51076024	G	A	51076024	2	1	437	1	0	0	0	0	0	0	0	1	10797	991	35	4		4	NUDT10	23	51076024	Silent	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	40981758	51076024	104194536	59	86177											
PCDH11X	27328	broad.mit.edu	37	chrX	91134209	91134209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagttcagatccctacagCgtttctgactgtggctatcc	8	12	9	12	1	2	2	1	1	1	1	4	2	4	2	2	1	3	4	2	1	2	4			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:91134209C>T	ENST00000373094.1	+	2	3815	c.2970C>T	c.(2968-2970)agC>agT	p.S990S	PCDH11X_ENST00000361655.2_Silent_p.S990S|PCDH11X_ENST00000504220.1_Silent_p.S990S|PCDH11X_ENST00000395337.2_Silent_p.S990S|PCDH11X_ENST00000361724.1_Silent_p.S990S|PCDH11X_ENST00000373088.1_Silent_p.S990S|PCDH11X_ENST00000298274.8_Silent_p.S990S|PCDH11X_ENST00000373097.1_Silent_p.S990S|PCDH11X_ENST00000406881.1_Silent_p.S990S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	990					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.S990S(2)		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						ATCCCTACAGCGTTTCTGACT	0.478													40	65					0	0	0	0	T	91134209	C	T	91134209	2	4	437	1	0	0	0	0	0	0	0	1	11579	767	27	1		1	PCDH11X	23	91134209	Silent	SNP	C	TCGA-IQ-A61J-01A-11D-A30E-08	40058185	91134209	64136351	60	86178											
SLC9A6	10479	broad.mit.edu	37	chrX	135095108	135095108	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagccttaacagtcttacGtgacaaagttcaccaaatta	15	11	5	10	1	2	1	1	1	1	0	2	1	2	1	2	0	3	1	2	0	6	5			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:135095108G>A	ENST00000370695.4	+	8	1077	c.1041_splice	c.e8-1	p.V348_splice	SLC9A6_ENST00000370698.3_Splice_Site_p.V316_splice|SLC9A6_ENST00000370701.1_Splice_Site_p.V296_splice	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	316					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACAGTCTTACGTGACAAAGTT	0.423													4	109					0	0	0	0	A	135095108	G	A	135095108	5	1	437	1	0	0	0	0	0	0	1	0	14806	1159	40	1	1072	1	SLC9A6	23	135095108	Splice_Site	SNP	G	TCGA-IQ-A61J-01A-11D-A30E-08	43960899	135095108	20175452	61	86179											
FLNA	2316	broad.mit.edu	37	chrX	153594745	153594745	+	Frame_Shift_Del	DEL	G	G	-																															gggctccaggccgggaccttGggctgtcactttgctggcgt																										TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:153594745delG	ENST00000422373.1	-	8	1407	c.1159delC	c.(1159-1161)aafs	p.Q387fs	FLNA_ENST00000344736.4_Frame_Shift_Del_p.Q387fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.Q387fs|FLNA_ENST00000369850.3_Frame_Shift_Del_p.Q387fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	387					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGGGACCTTGGGCTGTCACT	0.597													19	29	---	---	---	---					-	153594745	G	-	153594745	7	5	437	1	0	1	0	1	0	0	0	0	5978	1357	47	0	6948	0	FLNA	23	153594745	Frame_Shift_Del	DEL	G	TCGA-IQ-A61J-01A-11D-A30E-08	18499637	153594745	1675815	62	86180											
NPHP4	261734	broad.mit.edu	37	chr1	5950982	5950982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagtctccgtcccagacGtcaatctgcagggtctgcac	8	8	12	13	2	4	1	1	0	3	1	6	2	5	2	2	2	2	2	2	2	1	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:5950982G>A	ENST00000378156.4	-	17	2515	c.2250C>T	c.(2248-2250)gaC>gaT	p.D750D	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	750					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCCCAGACGTCAATCTGCA	0.637													3	27					0	0	0	0	A	5950982	G	A	5950982	2	1	438	1	0	0	0	0	0	0	0	1	10651	1136	40	1		1	NPHP4	1	5950982	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		5950982	243299639	1	86181											
MTOR	2475	broad.mit.edu	37	chr1	11288886	11288886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggtctcggaagatccGcatcagggccaccatggaca	10	7	12	12	2	2	2	1	1	1	1	4	4	3	4	3	4	0	1	3	4	1	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:11288886G>A	ENST00000361445.4	-	19	2945	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	957					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CGGAAGATCCGCATCAGGGCC	0.502													4	135					0	0	0	0	A	11288886	G	A	11288886	3	1	438	1	0	0	0	0	1	0	0	0	10024	1086	38	1	4940	1	MTOR	1	11288886	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	5337904	11288886	237961735	2	86182											
VPS13D	55187	broad.mit.edu	37	chr1	12409370	12409370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgtagtgaagactgcaGaaattagtagcagtaaacga	17	8	10	6	1	0	3	0	1	0	2	0	4	0	3	1	0	3	5	1	0	8	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:12409370G>A	ENST00000358136.3	+	46	9500	c.9370G>A	c.(9370-9372)Gaa>Aaa	p.E3124K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3099K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3123					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGACTGCAGAAATTAGTAG	0.458													28	143					0	0	0	0	A	12409370	G	A	12409370	3	1	438	1	0	0	0	0	1	0	0	0	17288	943	33	2	9548	2	VPS13D	1	12409370	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	1120484	12409370	236841251	3	86183											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887326	12887326	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgtgtcaggatgggcagTatccacttgcaattcacttc	10	12	9	10	0	2	0	2	0	0	0	4	1	3	1	1	2	2	3	1	2	3	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:12887326T>C	ENST00000535591.1	-	3	726	c.531A>G	c.(529-531)atA>atG	p.I177M		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	177										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGATGGGCAGTATCCACTTGC	0.488													111	486					0	0	0	0	C	12887326	T	C	12887326	3	2	438	1	0	0	0	0	1	0	0	0	12503	1628	57	5	787	5	PRAMEF11	1	12887326	Missense_Mutation	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08	477956	12887326	236363295	4	86184											
CELA3A	10136	broad.mit.edu	37	chr1	22336270	22336270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacggtgtgaccagctttGtttctgcctttggctgcaac	5	14	10	12	1	1	1	0	1	1	0	2	1	2	1	3	2	4	4	3	2	1	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:22336270G>T	ENST00000290122.3	+	7	734	c.715G>T	c.(715-717)Gtt>Ttt	p.V239F		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCAGCTTTGTTTCTGCCTT	0.612													4	67					1.06961e-07	1.12055e-07	1	0	T	22336270	G	T	22336270	3	4	438	1	0	0	0	0	1	0	0	0	3242	1377	48	4	741	4	CELA3A	1	22336270	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	9448944	22336270	226914351	5	86185											
LUZP1	7798	broad.mit.edu	37	chr1	23418370	23418370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagatggatatatagtaatGctacttgtcactttgtttgg	10	17	9	5	0	2	1	2	0	0	1	2	2	2	2	0	2	2	3	0	2	5	8			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:23418370G>A	ENST00000302291.4	-	4	3186	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	LUZP1_ENST00000418342.1_Silent_p.S795S|LUZP1_ENST00000374623.3_Silent_p.S795S|LUZP1_ENST00000314174.5_Silent_p.S795S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	795						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		ATATAGTAATGCTACTTGTCA	0.507													15	46					0	0	0	0	A	23418370	G	A	23418370	2	1	438	1	0	0	0	0	0	0	0	1	9150	1310	46	4		4	LUZP1	1	23418370	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	1082100	23418370	225832251	6	86186											
SCMH1	22955	broad.mit.edu	37	chr1	41514481	41514481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacagaggcacgggctggtCcaaaatggtcagggagttgc	10	6	15	10	1	1	1	1	0	0	1	2	2	2	2	2	5	1	3	2	5	2	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:41514481C>T	ENST00000402904.2	-	11	1525	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	SCMH1_ENST00000361705.3_Missense_Mutation_p.G339E|SCMH1_ENST00000456518.2_Missense_Mutation_p.G228E|SCMH1_ENST00000397171.2_Missense_Mutation_p.G325E|SCMH1_ENST00000397174.2_Missense_Mutation_p.G366E|SCMH1_ENST00000372595.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372596.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372597.1_Missense_Mutation_p.G339E|SCMH1_ENST00000361191.5_Missense_Mutation_p.G325E|SCMH1_ENST00000337495.5_Missense_Mutation_p.G396E|SCMH1_ENST00000326197.7_Missense_Mutation_p.G386E	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	386					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ACGGGCTGGTCCAAAATGGTC	0.507													44	164					0	0	0	0	T	41514481	C	T	41514481	3	4	438	1	0	0	0	0	1	0	0	0	13995	855	30	2	849	2	SCMH1	1	41514481	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	18096111	41514481	207736140	7	86187											
PIK3R3	8503	broad.mit.edu	37	chr1	46521491	46521491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgttgatctcggatctttCgcagctggatcaggtcaggt	6	13	14	8	2	4	1	2	1	2	0	6	3	4	3	0	5	1	3	0	5	0	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:46521491C>T	ENST00000262741.5	-	7	1606	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Missense_Mutation_p.R352Q|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000423209.1_Intron	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	306					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.R306Q(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TCGGATCTTTCGCAGCTGGAT	0.453													4	159					0	0	0	0	T	46521491	C	T	46521491	3	4	438	1	0	0	0	0	1	0	0	0	11992	884	31	1	484	1	PIK3R3	1	46521491	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	5007010	46521491	202729130	8	86188											
HIPK1	204851	broad.mit.edu	37	chr1	114515704	114515704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcagcaacccagccccccGcaggcagcaggcgtttgtgg	9	4	13	15	2	0	0	0	0	0	0	0	0	0	0	4	3	5	6	4	3	2	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:114515704G>A	ENST00000369558.1	+	16	3435	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H	HIPK1_ENST00000369553.1_Missense_Mutation_p.R674H|HIPK1_ENST00000369554.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000369561.4_Missense_Mutation_p.R1034H|HIPK1_ENST00000340480.4_Missense_Mutation_p.R694H|HIPK1_ENST00000369555.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000426820.2_Missense_Mutation_p.R1068H|HIPK1_ENST00000406344.1_Missense_Mutation_p.R674H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1068	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CCAGCCCCCCGCAGGCAGCAG	0.627													5	269					0	0	0	0	A	114515704	G	A	114515704	3	1	438	1	0	0	0	0	1	0	0	0	7166	1087	38	1	3363	1	HIPK1	1	114515704	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	67994213	114515704	134734917	9	86189											
HSD3B1	3283	broad.mit.edu	37	chr1	120057173	120057174	+	Frame_Shift_Del	DEL	CT	CT	-																															gagatctggcgtataagccaCtctacagctgggaggaagcc																										TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:120057173_120057174delCT	ENST00000235547.6	+	4	1172_1173	c.1033_1034delCT	c.(1033-1035)cfs	p.L345fs	HSD3B1_ENST00000369413.3_Frame_Shift_Del_p.L343fs|HSD3B1_ENST00000528909.1_Frame_Shift_Del_p.L343fs	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	343					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GTATAAGCCACTCTACAGCTGG	0.51													18	97	---	---	---	---					-	120057174	CT	-	120057173	7	5	438	1	0	1	0	1	0	0	0	0	7440	565	20	0	1037	0	HSD3B1	1	120057173	Frame_Shift_Del	DEL	CT	TCGA-IQ-A61K-01A-11D-A30E-08	5541469	120057173	129193448	10	86190											
TARS2	80222	broad.mit.edu	37	chr1	150460440	150460440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcatggcacagaaggaacCccggactattaagatatcac	16	6	9	10	1	1	2	1	0	0	2	1	4	1	4	2	3	2	2	2	3	6	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:150460440C>G	ENST00000369064.3	+	2	207	c.173C>G	c.(172-174)cCc>cGc	p.P58R	TARS2_ENST00000369054.2_Missense_Mutation_p.P58R|TARS2_ENST00000438568.2_Missense_Mutation_p.P58R|TARS2_ENST00000606933.1_Missense_Mutation_p.P58R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	58					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAGGAACCCCGGACTATT	0.547													19	60					0	0	0	0	G	150460440	C	G	150460440	3	3	438	1	0	0	0	0	1	0	0	0	15651	623	22	4	179	4	TARS2	1	150460440	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	30403267	150460440	98790181	11	86191											
CLK2	1196	broad.mit.edu	37	chr1	155240608	155240608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcctcaccttcgagaaCggacatggtagctgtcctct	8	10	11	12	2	2	2	1	1	1	1	4	4	3	3	3	3	2	2	3	3	2	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:155240608C>T	ENST00000368361.4	-	2	476	c.161G>A	c.(160-162)cGt>cAt	p.R54H	CLK2_ENST00000355560.4_Missense_Mutation_p.R54H|CLK2_ENST00000536801.1_Missense_Mutation_p.R54H|CLK2_ENST00000361168.5_Missense_Mutation_p.R54H			P49760	CLK2_HUMAN	CDC-like kinase 2	54						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTCGAGAACGGACATGGTA	0.498								Other conserved DNA damage response genes					33	129					0	0	0	0	T	155240608	C	T	155240608	3	4	438	1	0	0	0	0	1	0	0	0	3567	536	19	1	1383	1	CLK2	1	155240608	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	4780168	155240608	94010013	12	86192											
HDGF	3068	broad.mit.edu	37	chr1	156714066	156714068	+	In_Frame_Del	DEL	CTT	CTT	-																															ctgctgccctctgcattcccCttcttatcaccgtcaccctc																										TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:156714066_156714068delCTT	ENST00000357325.5	-	4	690_692	c.376_378delAAG	c.(376-378)del	p.K126del	HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_In_Frame_Del_p.K94del|HDGF_ENST00000368206.5_In_Frame_Del_p.K142del|HDGF_ENST00000537739.1_In_Frame_Del_p.K126del|HDGF_ENST00000368209.5_In_Frame_Del_p.K119del	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	126	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGCATTCCCCTTCTTATCACCG	0.571													131	500	---	---	---	---					-	156714068	CTT	-	156714066	7	5	438	1	0	1	0	1	0	0	0	0	7068	680	24	0	356	0	HDGF	1	156714066	In_Frame_Del	DEL	CTT	TCGA-IQ-A61K-01A-11D-A30E-08	1473458	156714066	92536555	13	86193											
SDCCAG8	10806	broad.mit.edu	37	chr1	243449654	243449654	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacagctaaaatctcaAagacaagaggagacactgag	19	4	9	9	0	1	4	1	1	1	3	2	5	1	4	0	1	3	2	0	1	5	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:243449654A>C	ENST00000366541.3	+	5	619	c.501A>C	c.(499-501)caA>caC	p.Q167H	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.Q167H|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q22H|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q167H	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	167					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAAATCTCAAAGACAAGAGG	0.358													17	61					0	0	0	0	C	243449654	A	C	243449654	3	2	438	1	0	0	0	0	1	0	0	0	14046	11	1	5	519	5	SDCCAG8	1	243449654	Missense_Mutation	SNP	A	TCGA-IQ-A61K-01A-11D-A30E-08	86735588	243449654	5800967	14	86194											
NBAS	51594	broad.mit.edu	37	chr2	15696908	15696908	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaccgaagactcaccTgtaccagatgtattggcgta	13	9	10	9	2	1	4	1	1	0	3	1	5	1	4	3	1	2	3	3	1	6	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:15696908T>C	ENST00000281513.5	-	3	233	c.209_splice	c.e3+1	p.S70_splice	NBAS_ENST00000441750.1_Splice_Site_p.S70_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	70										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGACTCACCTGTACCAGATG	0.284													50	13					0	0	0	0	C	15696908	T	C	15696908	5	2	438	1	0	0	0	0	0	0	1	0	10256	1594	55	5	7107	5	NBAS	2	15696908	Splice_Site	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08		15696908	227502465	15	86195											
CTNNA2	1496	broad.mit.edu	37	chr2	80620353	80620353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagactggaaggaaagaaaaAggagatcctctcaacattgc	17	7	10	7	0	1	3	1	0	1	3	3	6	2	5	1	3	2	0	1	3	6	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:80620353A>T	ENST00000466387.1	+	12	1798	c.1074A>T	c.(1072-1074)aaA>aaT	p.K358N	CTNNA2_ENST00000541047.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000540488.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000402739.4_Missense_Mutation_p.K358N|CTNNA2_ENST00000496558.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000343114.3_Missense_Mutation_p.K37N|CTNNA2_ENST00000361291.4_Missense_Mutation_p.K392N			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	358					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAAAGAAAAAGGAGATCCTC	0.279													13	260					0	0	0	0	T	80620353	A	T	80620353	3	4	438	1	0	0	0	0	1	0	0	0	4045	69	3	5	892	5	CTNNA2	2	80620353	Missense_Mutation	SNP	A	TCGA-IQ-A61K-01A-11D-A30E-08	64923445	80620353	162579020	16	86196											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105915092	105915092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtatggaaaggacacagcCgccccaatcacattctccga	13	6	8	14	3	2	0	1	0	1	0	3	3	2	2	4	2	1	1	4	2	3	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:105915092C>T	ENST00000393359.2	-	3	1185	c.759G>A	c.(757-759)gcG>gcA	p.A253A	TGFBRAP1_ENST00000258449.1_Silent_p.A253A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	253	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGGACACAGCCGCCCCAATCA	0.537													22	78					0	0	0	0	T	105915092	C	T	105915092	2	4	438	1	0	0	0	0	0	0	0	1	15918	639	23	1		1	TGFBRAP1	2	105915092	Silent	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	25294739	105915092	137284281	17	86197											
LRP1B	53353	broad.mit.edu	37	chr2	141665476	141665476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccttcatcagagccatcagGacaatcctttttcccattgc	9	12	6	14	0	3	1	3	0	0	1	5	2	5	2	4	1	2	0	4	1	1	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:141665476G>A	ENST00000389484.3	-	22	4461	c.3490C>T	c.(3490-3492)Cct>Tct	p.P1164S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1164	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCCATCAGGACAATCCTTT	0.438										TSP Lung(27;0.18)			40	173					0	0	0	0	A	141665476	G	A	141665476	3	1	438	1	0	0	0	0	1	0	0	0	9019	1174	41	2	10589	2	LRP1B	2	141665476	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	35750384	141665476	101533897	18	86198											
ZAK	51776	broad.mit.edu	37	chr2	174123463	174123463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtatatggagatggatgggGatgaaattgcaataacctac	14	11	12	4	0	0	2	0	1	0	1	0	5	0	4	1	4	3	2	1	4	6	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:174123463G>A	ENST00000375213.3	+	17	1474	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.D466N	NM_016653.2	NP_057737.2																					GATGGATGGGGATGAAATTGC	0.323													6	13					0	0	0	0	A	174123463	G	A	174123463	3	1	438	1	0	0	0	0	1	0	0	0	17608	1174	41	2	1843	2	ZAK	2	174123463	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	32457987	174123463	69075910	19	86199											
TMEFF2	23671	broad.mit.edu	37	chr2	193044385	193044385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatatgtaaaaaggcAactcctacctccatctccag	14	10	4	13	0	2	0	1	0	1	0	5	0	4	0	4	1	2	2	4	1	7	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:193044385A>G	ENST00000409056.3	-	4	447	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	TMEFF2_ENST00000392314.1_Intron|TMEFF2_ENST00000272771.5_Intron			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	0						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GTAAAAAGGCAACTCCTACCT	0.299													12	30					0	0	0	0	G	193044385	A	G	193044385	3	3	438	1	0	0	0	0	1	0	0	0	16108	145	5	5		5	TMEFF2	2	193044385	Missense_Mutation	SNP	A	TCGA-IQ-A61K-01A-11D-A30E-08	18920922	193044385	50154988	20	86200											
OR6B2	389090	broad.mit.edu	37	chr2	240969703	240969703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggaggtgctgctccagacGatgaggatgatggccaggtt	9	8	17	7	1	0	3	0	2	0	1	1	6	1	5	2	5	2	3	2	5	0	1	rs142836659	by1000genomes	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:240969703G>A	ENST00000402971.2	-	1	203	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCTCCAGACGATGAGGATGA	0.582													61	88					0	0	0	0	A	240969703	G	A	240969703	2	1	438	1	0	0	0	0	0	0	0	1	11259	1048	37	1		1	OR6B2	2	240969703	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	47925318	240969703	2229670	21	86201											
COL7A1	1294	broad.mit.edu	37	chr3	48631047	48631048	+	Frame_Shift_Ins	INS	-	-	GTTG																															attgcagcccctgtgcgagtINSgttgccccccttgtagctaa																										TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr3:48631047_48631048insGTTG	ENST00000328333.8	-	3	455_456	c.348_349insCAAC	c.(346-351)aactcgfs	p.S117fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.S117fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	117	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGTGCGAGTGTTGCCCCCCT	0.619													24	96	---	---	---	---					GTTG	48631048	-	GTTG	48631047	7	5	438	1	0	1	1	0	0	0	0	0	3734	1696	59	0	8949	0	COL7A1	3	48631047	Frame_Shift_Ins	INS	-	TCGA-IQ-A61K-01A-11D-A30E-08		48631047	149391383	22	86202											
HEG1	57493	broad.mit.edu	37	chr3	124728587	124728587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccaactggtacccaaccGggcatttgcagataaaggat	12	10	9	10	1	0	1	0	0	0	1	1	2	1	2	3	3	4	3	3	3	5	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr3:124728587G>A	ENST00000311127.4	-	8	3222	c.3155C>T	c.(3154-3156)cCg>cTg	p.P1052L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1052	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTACCCAACCGGGCATTTGCA	0.428													12	29					0	0	0	0	A	124728587	G	A	124728587	3	1	438	1	0	0	0	0	1	0	0	0	7094	1116	39	1	1030	1	HEG1	3	124728587	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	76097540	124728587	73293843	23	86203											
SLIT2	9353	broad.mit.edu	37	chr4	20618684	20618684	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcattttgcctggctgTgagccatgccacaagaaggt	10	9	12	10	0	0	2	0	1	0	1	0	2	0	2	3	3	3	2	3	3	2	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:20618684T>C	ENST00000504154.1	+	35	4251	c.3999T>C	c.(3997-3999)tgT>tgC	p.C1333C	SLIT2_ENST00000273739.5_Silent_p.C1346C|SLIT2_ENST00000503837.1_Silent_p.C1329C|SLIT2_ENST00000503823.1_Silent_p.C1325C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1333	EGF-like 7.|Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCCTGGCTGTGAGCCATGCC	0.592													19	86					0	0	0	0	C	20618684	T	C	20618684	2	2	438	1	0	0	0	0	0	0	0	1	14828	1702	59	5		5	SLIT2	4	20618684	Silent	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08		20618684	170535592	24	86204											
PPARGC1A	10891	broad.mit.edu	37	chr4	23803958	23803958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccgacataaatcacaCggcgctcttcctatgggggg	9	11	10	11	3	2	0	1	0	1	0	3	1	3	0	2	4	1	1	2	4	4	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:23803958C>T	ENST00000264867.2	-	11	2149	c.2030G>A	c.(2029-2031)cGt>cAt	p.R677H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	677	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATAAATCACACGGCGCTCTTC	0.507													23	84					0	0	0	0	T	23803958	C	T	23803958	3	4	438	1	0	0	0	0	1	0	0	0	12371	536	19	1	378	1	PPARGC1A	4	23803958	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	3185274	23803958	167350318	25	86205											
NAA11	84779	broad.mit.edu	37	chr4	80246587	80246587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatctgcgagagatcccGcttcatagcataagcatctt	10	11	8	12	2	3	1	1	0	2	1	4	3	4	1	2	0	4	3	2	0	2	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:80246587G>A	ENST00000286794.4	-	1	617	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	149	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.R149W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GAGAGATCCCGCTTCATAGCA	0.527													15	48					0	0	0	0	A	80246587	G	A	80246587	3	1	438	1	0	0	0	0	1	0	0	0	10187	1086	38	1	248	1	NAA11	4	80246587	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	56442629	80246587	110907689	26	86206											
KIAA1109	84162	broad.mit.edu	37	chr4	123275098	123275098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaagataacaaggcgtcGccatgaaaatccaccccatg	16	5	7	13	2	0	2	0	1	0	1	2	2	1	2	5	1	2	0	5	1	6	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:123275098G>A	ENST00000264501.4	+	82	14604	c.14231G>A	c.(14230-14232)cGc>cAc	p.R4744H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4744H			Q2LD37	K1109_HUMAN	KIAA1109	4744					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAAGGCGTCGCCATGAAAAT	0.398													13	50					0	0	0	0	A	123275098	G	A	123275098	3	1	438	1	0	0	0	0	1	0	0	0	8259	1087	38	1	14549	1	KIAA1109	4	123275098	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	43028511	123275098	67879178	27	86207											
SMAD5	4090	broad.mit.edu	37	chr5	135508250	135508250	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtagatggattcacagaTccttcaaataacaaaagtag	17	11	7	6	0	2	2	2	0	0	2	3	3	3	3	1	1	1	2	1	1	7	6			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:135508250T>C	ENST00000545279.1	+	6	1263	c.903T>C	c.(901-903)gaT>gaC	p.D301D	SMAD5_ENST00000545620.1_Silent_p.D301D|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	301	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTCACAGATCCTTCAAATA	0.343													18	79					0	0	0	0	C	135508250	T	C	135508250	2	2	438	1	0	0	0	0	0	0	0	1	14849	1432	50	5		5	SMAD5	5	135508250	Silent	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08		135508250	45407010	28	86208											
PCDHA9	9752	broad.mit.edu	37	chr5	140229463	140229463	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcgcagtccgagtacacGgtgttcgtgaaggagaacaa	11	8	13	9	5	0	2	0	1	0	1	3	4	1	2	1	2	2	3	1	2	4	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:140229463G>A	ENST00000378122.3	+	1	2107	c.1383G>A	c.(1381-1383)acG>acA	p.T461T	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.T461T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTACACGGTGTTCGTGA	0.667													42	139					0	0	0	0	A	140229463	G	A	140229463	2	1	438	1	0	0	0	0	0	0	0	1	11602	1103	39	1		1	PCDHA9	5	140229463	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	4721213	140229463	40685797	29	86209											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731531	140731531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggggcctgatggctcCgccctcttcgatatggtgcc	3	10	14	14	3	1	1	0	1	1	0	3	2	2	1	4	4	1	2	4	4	1	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:140731531C>T	ENST00000523390.1	+	1	1704	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGGCTCCGCCCTCTTCG	0.677													15	70					0	0	0	0	T	140731531	C	T	140731531	2	4	438	1	0	0	0	0	0	0	0	1	11633	639	23	1		1	PCDHGB1	5	140731531	Silent	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	502068	140731531	40183729	30	86210											
ZBTB22	9278	broad.mit.edu	37	chr6	33282955	33282955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggatggccccgtgggaGtcccaggcccaggtacggcc	7	4	16	14	2	0	0	0	0	0	0	1	2	1	2	5	6	1	2	5	6	2	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:33282955G>A	ENST00000431845.2	-	2	1890	c.1739C>T	c.(1738-1740)aCt>aTt	p.T580I	ZBTB22_ENST00000418724.1_Missense_Mutation_p.T580I	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCGTGGGAGTCCCAGGCCC	0.706													43	19					0	0	0	0	A	33282955	G	A	33282955	3	1	438	1	0	0	0	0	1	0	0	0	17625	1029	36	4	169	4	ZBTB22	6	33282955	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		33282955	137832112	31	86211											
TCTE1	202500	broad.mit.edu	37	chr6	44248010	44248010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggctgcttctcggtttgCgtagagggcctggccaatga	5	10	16	10	3	1	2	0	1	1	1	2	2	1	2	2	4	2	4	2	4	2	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:44248010C>T	ENST00000371505.4	-	5	1536	c.1414G>A	c.(1414-1416)Gca>Aca	p.A472T	TCTE1_ENST00000371503.3_Missense_Mutation_p.A169T|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.A169T	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	472										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTCGGTTTGCGTAGAGGGCC	0.557													4	146					0	0	0	0	T	44248010	C	T	44248010	3	4	438	1	0	0	0	0	1	0	0	0	15811	768	27	1	95	1	TCTE1	6	44248010	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	10965055	44248010	126867057	32	86212											
PHF3	23469	broad.mit.edu	37	chr6	64401688	64401688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgattgtgttgggttaagtCtttctcaagcacagcagatg	9	14	12	6	0	2	2	1	1	2	1	3	2	2	2	0	1	2	4	0	1	2	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:64401688C>T	ENST00000262043.3	+	5	2591	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	PHF3_ENST00000393387.1_Missense_Mutation_p.L751F			Q92576	PHF3_HUMAN	PHD finger protein 3	751					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGGGTTAAGTCTTTCTCAAGC	0.393													34	142					0	0	0	0	T	64401688	C	T	64401688	3	4	438	1	0	0	0	0	1	0	0	0	11908	913	32	2	2265	2	PHF3	6	64401688	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	20153678	64401688	106713379	33	86213											
SLC35F1	222553	broad.mit.edu	37	chr6	118596639	118596639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggggaaaataagctggtaGgggaccttctggtcttagga	11	10	15	5	0	2	0	0	0	2	0	2	3	2	3	1	7	1	2	1	7	6	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:118596639G>A	ENST00000360388.4	+	5	856	c.655G>A	c.(655-657)Ggg>Agg	p.G219R		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	219					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TAAGCTGGTAGGGGACCTTCT	0.448													14	40					0	0	0	0	A	118596639	G	A	118596639	3	1	438	1	0	0	0	0	1	0	0	0	14676	1000	35	4	673	4	SLC35F1	6	118596639	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	54194951	118596639	52518428	34	86214											
CHST12	55501	broad.mit.edu	37	chr7	2472569	2472569	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgccggggagcatggagGagagcgtgagaggctacgac	9	4	19	9	4	0	2	0	1	0	2	0	7	0	4	1	5	4	2	1	5	1	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:2472569G>T	ENST00000258711.6	+	2	430	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	99					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GAGCATGGAGGAGAGCGTGAG	0.682													29	121					1.1904e-30	1.33617e-30	1	0	T	2472569	G	T	2472569	4	4	438	1	0	0	0	0	0	1	0	0	3429	1175	41	2	297	2	CHST12	7	2472569	Nonsense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		2472569	156666094	35	86215											
PCLO	27445	broad.mit.edu	37	chr7	82544172	82544172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggcaggggtccagctGcagccctggccattcccatt	5	10	13	13	0	0	0	0	0	0	0	2	0	2	0	4	5	3	3	4	5	0	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:82544172G>T	ENST00000423517.2	-	7	13467	c.13130C>A	c.(13129-13131)gCa>gAa	p.A4377E	PCLO_ENST00000437081.1_Missense_Mutation_p.A1097E|PCLO_ENST00000333891.8_Missense_Mutation_p.A4377E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4308					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGTCCAGCTGCAGCCCTGGC	0.507													14	68					3.27435e-08	3.49688e-08	1	0	T	82544172	G	T	82544172	3	4	438	1	0	0	0	0	1	0	0	0	11654	1319	46	4	2391	4	PCLO	7	82544172	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	80071603	82544172	76594491	36	86216											
ABCB4	5244	broad.mit.edu	37	chr7	87037495	87037495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcactggcacgtttgctCgggtgggatagttgaacacg	9	9	15	8	3	0	1	0	1	0	0	1	3	0	2	0	3	3	5	0	3	3	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:87037495C>T	ENST00000265723.4	-	25	3248	c.3137G>A	c.(3136-3138)cGa>cAa	p.R1046Q	ABCB4_ENST00000358400.3_Missense_Mutation_p.R999Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R1046Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R1046Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R999Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1046	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CACGTTTGCTCGGGTGGGATA	0.458													14	56					0	0	0	0	T	87037495	C	T	87037495	3	4	438	1	0	0	0	0	1	0	0	0	43	884	31	1	739	1	ABCB4	7	87037495	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	4493323	87037495	72101168	37	86217											
LMTK2	22853	broad.mit.edu	37	chr7	97833262	97833262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttttatttctaggtggtgGctttgagtgggatgatgact	6	19	13	3	0	1	3	0	3	1	0	1	4	1	4	0	4	0	1	0	4	2	6			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:97833262G>A	ENST00000297293.5	+	13	4540	c.4247G>A	c.(4246-4248)gGc>gAc	p.G1416D		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1416					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTAGGTGGTGGCTTTGAGTGG	0.493													74	159					0	0	0	0	A	97833262	G	A	97833262	3	1	438	1	0	0	0	0	1	0	0	0	8914	1203	42	4	4297	4	LMTK2	7	97833262	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	10795767	97833262	61305401	38	86218											
FLNC	2318	broad.mit.edu	37	chr7	128492930	128492930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcacgtggtgagcgtgcGcaagagtggcaagcatgtca	10	6	17	8	3	1	2	1	1	0	1	1	3	1	3	0	3	4	4	0	3	2	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:128492930G>A	ENST00000325888.8	+	37	6314	c.6053G>A	c.(6052-6054)cGc>cAc	p.R2018H	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1985H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2018					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAGCGTGCGCAAGAGTGGC	0.637													4	96					0	0	0	0	A	128492930	G	A	128492930	3	1	438	1	0	0	0	0	1	0	0	0	5980	1087	38	1	6199	1	FLNC	7	128492930	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	30659668	128492930	30645733	39	86219											
KIAA1549	57670	broad.mit.edu	37	chr7	138604075	138604075	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactgctgtgctgggagccGggagcagtttctgttaaggc	6	10	17	8	1	1	0	0	0	1	0	1	3	1	3	1	4	4	5	1	4	1	2	rs148061561	by1000genomes	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:138604075G>A	ENST00000440172.1	-	2	345	c.297C>T	c.(295-297)ccC>ccT	p.P99P	KIAA1549_ENST00000422774.1_Silent_p.P99P|KIAA1549_ENST00000242365.4_Silent_p.P49P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	99						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTGGGAGCCGGGAGCAGTTT	0.517			O	BRAF	pilocytic astrocytoma								4	104					0	0	0	0	A	138604075	G	A	138604075	2	1	438	1	0	0	0	0	0	0	0	1	8295	1103	39	1		1	KIAA1549	7	138604075	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	10111145	138604075	20534588	40	86220											
GIMAP5	55340	broad.mit.edu	37	chr7	150440107	150440107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctattgttgtgcagcAtactttttttcattattttt	6	26	4	5	0	2	0	1	0	1	0	2	0	2	0	0	0	3	3	0	0	3	12			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:150440107A>G	ENST00000358647.3	+	3	1247	c.880A>G	c.(880-882)Ata>Gta	p.I294V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTGTGCAGCATACTTTTTTT	0.378													9	50					0	0	0	0	G	150440107	A	G	150440107	3	3	438	1	0	0	0	0	1	0	0	0	6433	217	8	5	886	5	GIMAP5	7	150440107	Missense_Mutation	SNP	A	TCGA-IQ-A61K-01A-11D-A30E-08	11836032	150440107	8698556	41	86221											
TRAM1	23471	broad.mit.edu	37	chr8	71495489	71495489	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatgttccctccaccttcGaagctgaaaattaatgaact	14	11	6	10	1	0	3	0	2	0	1	3	4	2	3	3	0	2	2	3	0	6	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:71495489G>A	ENST00000521425.1	-	10	1739	c.703C>T	c.(703-705)Cga>Tga	p.R235*	TRAM1_ENST00000536748.1_Nonsense_Mutation_p.R290*|TRAM1_ENST00000262213.2_Nonsense_Mutation_p.R321*			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	321	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTCCACCTTCGAAGCTGAAAA	0.378													8	33					0	0	0	0	A	71495489	G	A	71495489	4	1	438	1	0	0	0	0	0	1	0	0	16546	1066	37	1	171	1	TRAM1	8	71495489	Nonsense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		71495489	74868533	42	86222											
FABP12	646486	broad.mit.edu	37	chr8	82437355	82437355	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacactgttcacagtactttCctacaagacaaaagaaatat	18	10	4	9	0	1	2	1	0	0	2	2	2	2	2	1	0	3	2	1	0	8	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:82437355C>T	ENST00000360464.4	-	4	411	c.348_splice	c.e4-1	p.E117_splice	RP11-257P3.3_ENST00000518637.1_RNA|RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	117							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						ACAGTACTTTCCTACAAGACA	0.333													3	6					0	0	0	0	T	82437355	C	T	82437355	5	4	438	1	0	0	0	0	0	0	1	0	5397	869	30	2	75	2	FABP12	8	82437355	Splice_Site	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	10941866	82437355	63926667	43	86223											
RGS22	26166	broad.mit.edu	37	chr8	100990290	100990290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagaatttaaacagaaccCcaaaaattgtcatctgtata	17	10	5	9	0	2	2	1	0	1	2	2	2	2	2	3	0	2	1	3	0	8	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:100990290C>A	ENST00000360863.6	-	23	3568	c.3374G>T	c.(3373-3375)gGg>gTg	p.G1125V	RGS22_ENST00000523287.1_Missense_Mutation_p.G944V|RGS22_ENST00000523437.1_Missense_Mutation_p.G1113V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1125	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.G1125V(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAACAGAACCCCAAAAATTGT	0.269													6	19					8.12818e-05	8.20275e-05	1	0	A	100990290	C	A	100990290	3	1	438	1	0	0	0	0	1	0	0	0	13388	623	22	4	440	4	RGS22	8	100990290	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	18552935	100990290	45373732	44	86224											
SPAG1	6674	broad.mit.edu	37	chr8	101178202	101178203	+	Splice_Site	INS	-	-	TA																															aattgatggtgatataaaggINStatatagtaataccaatttt																										TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:101178202_101178203insTA	ENST00000388798.2	+	3	491		c.e3+1		SPAG1_ENST00000251809.3_Splice_Site|SPAG1_ENST00000520508.1_Splice_Site|SPAG1_ENST00000520643.1_Splice_Site	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1						single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGATATAAAGGTATATAGTAAT	0.381													18	40	---	---	---	---					TA	101178203	-	TA	101178202	8	5	438	1	0	1	1	0	0	0	1	0	15065	1275	44	0	307	0	SPAG1	8	101178202	Splice_Site	INS	-	TCGA-IQ-A61K-01A-11D-A30E-08	187912	101178202	45185820	45	86225											
RECK	8434	broad.mit.edu	37	chr9	36121659	36121659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgatcctgatcattcccGtcgatcactatccaaaagct	10	13	6	12	2	2	2	2	2	0	0	6	3	5	2	3	0	1	1	3	0	3	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr9:36121659G>A	ENST00000377966.3	+	20	3234	c.2668G>A	c.(2668-2670)Gtc>Atc	p.V890I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	890						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GATCATTCCCGTCGATCACTA	0.458													33	132					0	0	0	0	A	36121659	G	A	36121659	3	1	438	1	0	0	0	0	1	0	0	0	13282	1145	40	1	2746	1	RECK	9	36121659	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		36121659	105091772	46	86226											
CXCL12	6387	broad.mit.edu	37	chr10	44871427	44871427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctttctcttcttctgtCgcttcttttttcctatcttt	2	23	3	13	1	5	0	0	0	5	0	8	0	6	0	2	0	1	1	2	0	1	9			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:44871427C>T	ENST00000374426.2	-	4	357	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTTCTTCTGTCGCTTCTTTTT	0.393													4	100					0	0	0	0	T	44871427	C	T	44871427	3	4	438	1	0	0	0	0	1	0	0	0	4112	884	31	1	63	1	CXCL12	10	44871427	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08		44871427	90663320	47	86227											
ZNF365	22891	broad.mit.edu	37	chr10	64159482	64159482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggagctcctggggtttggCcgcaaaggcaacatcaggcc	8	6	16	11	1	1	0	1	0	0	0	2	1	2	1	3	7	2	4	3	7	2	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:64159482C>T	ENST00000395254.3	+	5	1438	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.G386G(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGGGTTTGGCCGCAAAGGCA	0.537													4	186					0	0	0	0	T	64159482	C	T	64159482	2	4	438	1	0	0	0	0	0	0	0	1	17964	726	26	4		4	ZNF365	10	64159482	Silent	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	19288055	64159482	71375265	48	86228											
FAM196A	642938	broad.mit.edu	37	chr10	128973711	128973711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgacggctgctcactacattCgggggacaggcactgcatcg	8	7	13	13	4	1	0	1	0	0	0	3	2	1	1	0	4	3	4	0	4	1	2	rs143223796		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:128973711C>T	ENST00000522781.1	-	4	1504	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.E317K	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	317										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCACTACATTCGGGGGACAGG	0.647													24	69					0	0	0	0	T	128973711	C	T	128973711	3	4	438	1	0	0	0	0	1	0	0	0	5571	893	31	1	502	1	FAM196A	10	128973711	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	64814229	128973711	6561036	49	86229											
B4GALNT4	338707	broad.mit.edu	37	chr11	379542	379542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgactgtccgagtacGtcttcctgcggctgccggga	4	9	14	14	5	1	0	0	0	1	0	3	3	3	1	4	2	4	2	4	2	1	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:379542G>A	ENST00000329962.6	+	15	2329	c.2329G>A	c.(2329-2331)Gtc>Atc	p.V777I		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	777						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			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)		GTCCGAGTACGTCTTCCTGCG	0.736													3	12					0	0	0	0	A	379542	G	A	379542	3	1	438	1	0	0	0	0	1	0	0	0	1273	1145	40	1	2387	1	B4GALNT4	11	379542	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		379542	134626974	50	86230											
MUC5B	727897	broad.mit.edu	37	chr11	1266021	1266021	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtggatcagcacaacCaccacacccacaaccagagg	14	3	8	16	0	1	1	1	0	0	1	1	2	1	2	5	2	3	1	5	2	2	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:1266021C>A	ENST00000447027.1	+	31	7978	c.7920C>A	c.(7918-7920)acC>acA	p.T2640T	MUC5B_ENST00000529681.1_Silent_p.T2637T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2637	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCACAACCACCACACCCA	0.632													51	87					1.86277e-20	2.06974e-20	1	0	A	1266021	C	A	1266021	2	1	438	1	0	0	0	0	0	0	0	1	10049	581	21	4		4	MUC5B	11	1266021	Silent	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	886479	1266021	133740495	51	86231											
OR2AG2	338755	broad.mit.edu	37	chr11	6789497	6789497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctttcttcctcccctcaTttgatggcatacgaagcaca	8	12	8	13	1	2	1	1	1	1	0	4	2	4	1	3	2	2	3	3	2	2	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:6789497T>C	ENST00000338569.2	-	1	789	c.692A>G	c.(691-693)aAt>aGt	p.N231S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCCCCTCATTTGATGGCAT	0.493													12	49					0	0	0	0	C	6789497	T	C	6789497	3	2	438	1	0	0	0	0	1	0	0	0	11056	1493	52	5	262	5	OR2AG2	11	6789497	Missense_Mutation	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08	5523476	6789497	128217019	52	86232											
KCNJ11	3767	broad.mit.edu	37	chr11	17408995	17408995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtaccacctgcatgtggAtggtggcgctgatgatcatg	7	11	14	9	2	1	2	1	2	0	0	1	3	1	3	2	3	3	3	2	3	1	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:17408995A>G	ENST00000339994.4	-	1	1211	c.644T>C	c.(643-645)aTc>aCc	p.I215T	KCNJ11_ENST00000528731.1_Missense_Mutation_p.I128T	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	128						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CTGCATGTGGATGGTGGCGCT	0.637											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	50					0	0	0	0	G	17408995	A	G	17408995	3	3	438	1	0	0	0	0	1	0	0	0	8098	333	12	5	532	5	KCNJ11	11	17408995	Missense_Mutation	SNP	A	TCGA-IQ-A61K-01A-11D-A30E-08	10619498	17408995	117597521	53	86233											
RAG2	5897	broad.mit.edu	37	chr11	36615501	36615501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcaagtggctgggtagCgaagaggagggaggtagcag	11	6	20	4	1	0	1	0	0	0	1	0	4	0	3	0	5	3	5	0	5	4	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:36615501C>T	ENST00000311485.3	-	2	379	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	73					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGCTGGGTAGCGAAGAGGAGG	0.453									Familial Hemophagocytic Lymphohistiocytosis				46	86					0	0	0	0	T	36615501	C	T	36615501	3	4	438	1	0	0	0	0	1	0	0	0	13087	768	27	1	1369	1	RAG2	11	36615501	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	19206506	36615501	98391015	54	86234											
GIF	2694	broad.mit.edu	37	chr11	59612919	59612919	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggtagagggcaaacCaggccatctcactctctcgt	10	8	11	12	1	3	1	2	0	2	1	6	2	3	2	2	4	1	2	2	4	2	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:59612919C>T	ENST00000257248.2	-	1	55	c.8G>A	c.(7-9)tGg>tAg	p.W3*	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	3					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GAGGGCAAACCAGGCCATCTC	0.478													24	137					0	0	0	0	T	59612919	C	T	59612919	4	4	438	1	0	0	0	0	0	1	0	0	6427	595	21	4	1281	4	GIF	11	59612919	Nonsense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	22997418	59612919	75393597	55	86235											
TMEM132A	54972	broad.mit.edu	37	chr11	60694805	60694805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactcctctctgagctcccGatctgagacctttctgctcc	6	12	6	17	1	3	2	0	2	3	1	7	4	6	2	4	0	3	2	4	0	1	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:60694805G>A	ENST00000005286.4	+	2	383	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R77Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	77						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGAGCTCCCGATCTGAGACC	0.642													4	154					0	0	0	0	A	60694805	G	A	60694805	3	1	438	1	0	0	0	0	1	0	0	0	16139	1058	37	1	236	1	TMEM132A	11	60694805	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	1081886	60694805	74311711	56	86236											
LGALS12	85329	broad.mit.edu	37	chr11	63277960	63277960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggagggcagcagagagtAcccagctggacatgtgagtt	10	8	16	7	0	0	2	0	1	0	1	0	5	0	4	1	3	3	5	1	3	1	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:63277960A>G	ENST00000415491.2	+	4	1015	c.401A>G	c.(400-402)tAc>tGc	p.Y134C	LGALS12_ENST00000394618.3_Missense_Mutation_p.Y195C|LGALS12_ENST00000340246.5_Missense_Mutation_p.Y196C|LGALS12_ENST00000255684.5_Missense_Mutation_p.Y195C|LGALS12_ENST00000425950.2_Missense_Mutation_p.Y134C	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	195	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGCAGAGAGTACCCAGCTGGA	0.557													11	66					0	0	0	0	G	63277960	A	G	63277960	3	3	438	1	0	0	0	0	1	0	0	0	8792	391	14	5	605	5	LGALS12	11	63277960	Missense_Mutation	SNP	A	TCGA-IQ-A61K-01A-11D-A30E-08	2583155	63277960	71728556	57	86237											
SIPA1	6494	broad.mit.edu	37	chr11	65410029	65410029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctggagcacgtggcgccGcagctgagccccagctgcct	5	7	13	16	3	1	1	0	1	1	0	1	2	1	2	4	2	5	4	4	2	0	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:65410029G>A	ENST00000394224.3	+	4	1199	c.903G>A	c.(901-903)ccG>ccA	p.P301P	SIPA1_ENST00000534313.1_Silent_p.P301P|SIPA1_ENST00000394227.3_Silent_p.P301P|SIPA1_ENST00000527525.1_Silent_p.P301P	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	301					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACGTGGCGCCGCAGCTGAGCC	0.692													5	23					0	0	0	0	A	65410029	G	A	65410029	2	1	438	1	0	0	0	0	0	0	0	1	14416	1074	38	1		1	SIPA1	11	65410029	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	2132069	65410029	69596487	58	86238											
CABP4	57010	broad.mit.edu	37	chr11	67223619	67223619	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaaggatgacagagccGtggctggccctggggacatc	9	5	18	9	1	0	2	0	1	0	1	1	6	0	6	2	7	1	1	2	7	1	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:67223619G>T	ENST00000438189.2	+	3	356	c.12G>T	c.(10-12)ccG>ccT	p.P4P	CABP4_ENST00000325656.5_Intron			P57796	CABP4_HUMAN	calcium binding protein 4	0					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGACAGAGCCGTGGCTGGCCC	0.657													10	71					1.58986e-06	1.63444e-06	1	0	T	67223619	G	T	67223619	2	4	438	1	0	0	0	0	0	0	0	1	2558	1160	40	3		3	CABP4	11	67223619	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	1813590	67223619	67782897	59	86239											
KRT72	140807	broad.mit.edu	37	chr12	52986206	52986206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaggcacttgaagaattTaatctcatctgtcaaggagt	15	12	8	6	0	3	2	2	1	2	1	4	3	3	3	0	2	0	1	0	2	6	4			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:52986206T>C	ENST00000293745.2	-	4	857	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E	KRT72_ENST00000354310.4_Missense_Mutation_p.K258E|KRT72_ENST00000537672.2_Missense_Mutation_p.K258E|KRT72_ENST00000398066.3_Missense_Mutation_p.K70E	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	258	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTGAAGAATTTAATCTCATCT	0.502													16	54					0	0	0	0	C	52986206	T	C	52986206	3	2	438	1	0	0	0	0	1	0	0	0	8537	1763	61	5	787	5	KRT72	12	52986206	Missense_Mutation	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08		52986206	80865689	60	86240											
AGAP2	116986	broad.mit.edu	37	chr12	58124354	58124354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatctggtggtggctgcagGgaactggggctggggctagg	5	9	21	6	0	1	1	0	1	1	0	1	2	1	2	0	9	2	4	0	9	2	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:58124354G>A	ENST00000257897.3	-	12	1429	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	AGAP2_ENST00000547588.1_Silent_p.S784S	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	784	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTGGCTGCAGGGAACTGGGGC	0.572													37	144					0	0	0	0	A	58124354	G	A	58124354	2	1	438	1	0	0	0	0	0	0	0	1	368	1219	43	4		4	AGAP2	12	58124354	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	5138148	58124354	75727541	61	86241											
ACSS3	79611	broad.mit.edu	37	chr12	81528729	81528729	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataggtgccatccacagtctCatatttggaggatttgcttc	9	14	9	9	0	1	0	1	0	1	0	4	2	2	2	2	3	2	1	2	3	2	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:81528729C>G	ENST00000548058.1	+	3	1501	c.591C>G	c.(589-591)ctC>ctG	p.L197L	ACSS3_ENST00000261206.3_Silent_p.L196L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	197						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCCACAGTCTCATATTTGGAG	0.403													13	36					0	0	0	0	G	81528729	C	G	81528729	2	3	438	1	0	0	0	0	0	0	0	1	190	813	29	2		2	ACSS3	12	81528729	Silent	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	23404375	81528729	52323166	62	86242											
GAS2L3	283431	broad.mit.edu	37	chr12	101017504	101017504	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaagtgtacctgattcGcctgccagaacacctcagcc	12	8	8	13	1	1	3	1	2	0	1	2	3	1	3	5	0	4	1	5	0	4	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:101017504G>A	ENST00000537247.1	+	10	1563	c.609G>A	c.(607-609)tcG>tcA	p.S203S	GAS2L3_ENST00000266754.5_Silent_p.S307S|GAS2L3_ENST00000547754.1_Silent_p.S307S|GAS2L3_ENST00000539410.1_Silent_p.S307S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	307					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TACCTGATTCGCCTGCCAGAA	0.378													19	59					0	0	0	0	A	101017504	G	A	101017504	2	1	438	1	0	0	0	0	0	0	0	1	6297	1074	38	1		1	GAS2L3	12	101017504	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	19488775	101017504	32834391	63	86243											
NOS1	4842	broad.mit.edu	37	chr12	117768559	117768559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaggtggtctccaggtGcgtggtgaaaccttcagggc	8	10	15	8	1	2	1	1	1	1	0	3	1	2	1	2	5	2	1	2	5	3	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:117768559G>A	ENST00000317775.6	-	2	1001	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	NOS1_ENST00000344089.3_Missense_Mutation_p.H106Y|NOS1_ENST00000338101.4_Missense_Mutation_p.H106Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	106	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCTCCAGGTGCGTGGTGAAA	0.622													15	44					0	0	0	0	A	117768559	G	A	117768559	3	1	438	1	0	0	0	0	1	0	0	0	10611	1319	46	4	4100	4	NOS1	12	117768559	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	16751055	117768559	16083336	64	86244											
PCDH20	64881	broad.mit.edu	37	chr13	61987983	61987983	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcctcggccaggctGccgatgagcacccccgcggg	5	4	15	17	5	0	1	0	1	0	0	2	2	1	1	5	4	2	3	5	4	0	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr13:61987983G>T	ENST00000409186.1	-	5	2354	c.249C>A	c.(247-249)ggC>ggA	p.G83G	PCDH20_ENST00000409204.4_Silent_p.G83G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	56	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CGGCCAGGCTGCCGATGAGCA	0.687													5	23					1.23904e-05	1.26199e-05	1	0	T	61987983	G	T	61987983	2	4	438	1	0	0	0	0	0	0	0	1	11586	1306	46	4		4	PCDH20	13	61987983	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		61987983	53181895	65	86245											
MYCBP2	23077	broad.mit.edu	37	chr13	77791957	77791989	+	Splice_Site	DEL	GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	-																															tataatgcaatattattaatGttttaaaaattccttacaga																										TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr13:77791957_77791989delGTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	ENST00000407578.2	-	21	3309_3324	c.3057_splice	c.e21+1	p.1015_splice	MYCBP2_ENST00000357337.6_Splice_Site_p.977_splice|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.977_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATTATTAATGTTTTAAAAATTCCTTACAGAAAAACTTCCAAATGTGAAGACC	0.335													9	58	---	---	---	---					-	77791989	GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	-	77791957	8	5	438	1	0	1	0	1	0	0	1	0	10088	1392	48	0		0	MYCBP2	13	77791957	Splice_Site	DEL	GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	TCGA-IQ-A61K-01A-11D-A30E-08	15803974	77791957	37377921	66	86246											
HEATR5A	25938	broad.mit.edu	37	chr14	31792926	31792926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgggatttttcatcaCgtctggtggtcaggactgag	9	12	14	6	1	4	1	3	1	1	0	4	4	4	4	0	5	0	0	0	5	1	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr14:31792926C>T	ENST00000543095.2	-	24	3816	c.3632G>A	c.(3631-3633)cGt>cAt	p.R1211H	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R918H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1205H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1205H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1205							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTTCATCACGTCTGGTGGT	0.413													18	60					0	0	0	0	T	31792926	C	T	31792926	3	4	438	1	0	0	0	0	1	0	0	0	7081	536	19	1	2560	1	HEATR5A	14	31792926	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08		31792926	75556614	67	86247											
VASH1	22846	broad.mit.edu	37	chr14	77236375	77236375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctggaagctgtgcagCgctacatcagagagctgcag	10	6	14	11	2	1	1	1	0	0	1	1	3	1	2	1	1	7	5	1	1	2	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr14:77236375C>T	ENST00000167106.4	+	2	1012	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	VASH1_ENST00000554237.1_Missense_Mutation_p.R127C|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	127					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGCTGTGCAGCGCTACATCAG	0.592													24	86					0	0	0	0	T	77236375	C	T	77236375	3	4	438	1	0	0	0	0	1	0	0	0	17221	768	27	1	385	1	VASH1	14	77236375	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	45443449	77236375	30113165	68	86248											
SPTBN5	51332	broad.mit.edu	37	chr15	42144411	42144411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgtctcagccagctgtgctCctagcccctggtgtccagag	5	10	11	15	1	1	1	1	0	1	1	5	1	3	1	5	1	4	2	5	1	1	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr15:42144411C>T	ENST00000320955.6	-	62	10780	c.10553G>A	c.(10552-10554)gGa>gAa	p.G3518E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3518					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCTGTGCTCCTAGCCCCTG	0.672													10	26					0	0	0	0	T	42144411	C	T	42144411	3	4	438	1	0	0	0	0	1	0	0	0	15212	855	30	2	499	2	SPTBN5	15	42144411	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08		42144411	60386981	69	86249											
SPG11	80208	broad.mit.edu	37	chr15	44865722	44865722	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatgctgtcagagaggttgGgaatccccggggggtagggc	8	7	19	7	1	1	1	1	0	0	1	2	4	2	2	2	6	1	3	2	6	3	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr15:44865722G>A	ENST00000558319.1	-	32	6258	c.6228C>T	c.(6226-6228)tcC>tcT	p.S2076S	SPG11_ENST00000261866.7_Intron|SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Intron			Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	0					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGAGAGGTTGGGAATCCCCGG	0.502													4	27					0	0	0	0	A	44865722	G	A	44865722	2	1	438	1	0	0	0	0	0	0	0	1	15131	1247	43	4		4	SPG11	15	44865722	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	2721311	44865722	57665670	70	86250											
CCDC135	84229	broad.mit.edu	37	chr16	57760065	57760065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttctggtcgcggaggagcGcatccagctgcgctaccact	6	9	13	13	4	1	0	0	0	1	0	3	2	2	2	2	3	4	4	2	3	1	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr16:57760065G>A	ENST00000360716.3	+	14	2065	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H|CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	615						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGGAGGAGCGCATCCAGCTG	0.632													4	119					0	0	0	0	A	57760065	G	A	57760065	3	1	438	1	0	0	0	0	1	0	0	0	2794	1087	38	1	1890	1	CCDC135	16	57760065	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		57760065	32594688	71	86251											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			46	26					0	0	0	0	T	7578406	C	T	7578406	3	4	438	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08		7578406	73616804	72	86252											
SLFN13	146857	broad.mit.edu	37	chr17	33771991	33771991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctccctcagtgtttgcaaAtgcagagatgtactctggaa	10	11	10	10	0	2	1	1	0	1	1	3	3	3	2	2	1	3	4	2	1	3	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:33771991A>C	ENST00000285013.6	-	3	984	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	SLFN13_ENST00000542635.1_Missense_Mutation_p.F237V|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.F237V|SLFN13_ENST00000526861.1_Missense_Mutation_p.F237V|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	237						intracellular	ATP binding			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)		GTGTTTGCAAATGCAGAGATG	0.388													28	116					0	0	0	0	C	33771991	A	C	33771991	3	2	438	1	0	0	0	0	1	0	0	0	14824	101	4	5	2000	5	SLFN13	17	33771991	Missense_Mutation	SNP	A	TCGA-IQ-A61K-01A-11D-A30E-08	26193585	33771991	47423219	73	86253											
GPATCH8	23131	broad.mit.edu	37	chr17	42476846	42476846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacttgagtaagaacgccGggaggaacgatgcgaggaat	13	6	15	7	4	0	2	0	1	0	1	0	7	0	5	1	3	4	2	1	3	5	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:42476846G>A	ENST00000434000.1	-	9	2647	c.2365C>T	c.(2365-2367)Cgg>Tgg	p.R789W	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R867W			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	867						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TAAGAACGCCGGGAGGAACGA	0.537													4	113					0	0	0	0	A	42476846	G	A	42476846	3	1	438	1	0	0	0	0	1	0	0	0	6643	1115	39	1	1913	1	GPATCH8	17	42476846	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	8704855	42476846	38718364	74	86254											
COIL	8161	broad.mit.edu	37	chr17	55027784	55027784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataactcagttggtaatttCtctgaggaatttctggcctc	9	15	9	8	0	3	1	1	1	2	0	5	3	3	2	1	3	1	2	1	3	3	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:55027784C>A	ENST00000240316.4	-	2	853	c.819G>T	c.(817-819)gaG>gaT	p.E273D		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	273						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTGGTAATTTCTCTGAGGAAT	0.443													30	105					3.65163e-15	3.97702e-15	1	0	A	55027784	C	A	55027784	3	1	438	1	0	0	0	0	1	0	0	0	3695	912	32	2	935	2	COIL	17	55027784	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	12550938	55027784	26167426	75	86255											
CD300E	342510	broad.mit.edu	37	chr17	72613477	72613477	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaatgctctcacatgaCgtgtcgtactgtcctcggca	8	11	8	14	3	1	1	1	1	1	0	6	1	3	1	2	1	2	3	2	1	2	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:72613477C>T	ENST00000392619.1	-	2	284	c.249G>A	c.(247-249)acG>acA	p.T83T	CD300E_ENST00000328630.3_Silent_p.T56T|CD300E_ENST00000426295.2_Silent_p.T97T	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	56	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTCACATGACGTGTCGTACT	0.552													19	80					0	0	0	0	T	72613477	C	T	72613477	2	4	438	1	0	0	0	0	0	0	0	1	3027	523	19	1		1	CD300E	17	72613477	Silent	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	17585693	72613477	8581733	76	86256											
OR2Z1	284383	broad.mit.edu	37	chr19	8841485	8841485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcttctccctggtggCtgtcatgtttgtcataggcc	3	15	10	13	0	4	0	2	0	2	0	6	0	5	0	3	3	0	3	3	3	1	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:8841485C>A	ENST00000324060.2	+	1	170	c.95C>A	c.(94-96)gCt>gAt	p.A32D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCTGGTGGCTGTCATGTTT	0.542													20	77					3.51602e-12	3.79178e-12	1	0	A	8841485	C	A	8841485	3	1	438	1	0	0	0	0	1	0	0	0	11107	797	28	4	97	4	OR2Z1	19	8841485	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08		8841485	50287498	77	86257											
ZNF792	126375	broad.mit.edu	37	chr19	35450454	35450454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcagaaggtaagtccttgCcctctgttccatggcaaaaa	11	10	9	11	0	2	1	1	0	1	1	4	1	4	1	3	2	1	4	3	2	4	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:35450454C>T	ENST00000404801.1	-	4	691	c.305G>A	c.(304-306)gGc>gAc	p.G102D	ZNF792_ENST00000605484.1_Missense_Mutation_p.G35D	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TAAGTCCTTGCCCTCTGTTCC	0.498													15	64					0	0	0	0	T	35450454	C	T	35450454	3	4	438	1	0	0	0	0	1	0	0	0	18257	739	26	4	1597	4	ZNF792	19	35450454	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	26608969	35450454	23678529	78	86258											
RYR1	6261	broad.mit.edu	37	chr19	38958446	38958446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggcctatgtcttcaatggGcaccgcgtgggtacctccct	5	11	11	14	2	2	0	1	0	1	0	3	0	3	0	4	3	1	2	4	3	3	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:38958446G>A	ENST00000355481.4	+	25	3506	c.3375G>A	c.(3373-3375)ggG>ggA	p.G1125G	RYR1_ENST00000360985.3_Silent_p.G1125G|RYR1_ENST00000359596.3_Silent_p.G1125G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1125	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTTCAATGGGCACCGCGTGG	0.627													17	63					0	0	0	0	A	38958446	G	A	38958446	2	1	438	1	0	0	0	0	0	0	0	1	13853	1190	42	4		4	RYR1	19	38958446	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	3507992	38958446	20170537	79	86259											
PSG7	5676	broad.mit.edu	37	chr19	43430085	43430085	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtccaagaatactgtgcCggtgggttagagtccgcaaa	11	10	12	8	2	0	2	0	0	0	2	2	2	2	2	3	2	2	2	3	2	5	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:43430085C>T	ENST00000406070.2	-	0	1179				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATACTGTGCCGGTGGGTTAG	0.463													61	311					0	0	0	0	T	43430085	C	T	43430085	1	4	438	0	1	0	0	0	0	0	0	0	12739	639	23	1		1	PSG7	19	43430085	RNA	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	4471639	43430085	15698898	80	86260											
PPP1R15A	23645	broad.mit.edu	37	chr19	49376951	49376951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaggacactgcaaggttCtgataagaacccaggggagg	14	6	14	7	0	1	2	0	1	1	1	1	5	1	4	1	5	2	2	1	5	4	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:49376951C>A	ENST00000200453.5	+	2	730	c.461C>A	c.(460-462)tCt>tAt	p.S154Y		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	154	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTGCAAGGTTCTGATAAGAAC	0.542													4	121					0.150653	0.150653	1	0	A	49376951	C	A	49376951	3	1	438	1	0	0	0	0	1	0	0	0	12439	913	32	2	463	2	PPP1R15A	19	49376951	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	5946866	49376951	9752032	81	86261											
KLK6	5653	broad.mit.edu	37	chr19	51466567	51466567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactactgaccatctgctgTcttgccccagcccaggatgt	7	10	8	16	0	2	1	0	1	2	0	2	2	2	2	5	1	4	1	5	1	1	2			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:51466567T>C	ENST00000376851.3	-	4	875	c.436A>G	c.(436-438)Aca>Gca	p.T146A	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_Missense_Mutation_p.T39A|KLK6_ENST00000310157.2_Missense_Mutation_p.T146A|KLK6_ENST00000456750.2_Missense_Mutation_p.T39A|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.T146A	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	146	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CCATCTGCTGTCTTGCCCCAG	0.612													20	94					0	0	0	0	C	51466567	T	C	51466567	3	2	438	1	0	0	0	0	1	0	0	0	8460	1667	58	5	310	5	KLK6	19	51466567	Missense_Mutation	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08	2089616	51466567	7662416	82	86262											
ZNF610	162963	broad.mit.edu	37	chr19	52869101	52869101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgaaaagtttacaaaccAtcgttcctcagtttcaccac	13	12	5	11	1	2	1	2	1	0	0	4	1	3	1	3	0	2	4	3	0	4	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:52869101A>G	ENST00000601151.1	+	5	793	c.341A>G	c.(340-342)cAt>cGt	p.H114R	ZNF610_ENST00000327920.8_Missense_Mutation_p.H157R|ZNF610_ENST00000321287.8_Missense_Mutation_p.H157R|ZNF610_ENST00000403906.3_Missense_Mutation_p.H157R	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTTACAAACCATCGTTCCTCA	0.343													31	125					0	0	0	0	G	52869101	A	G	52869101	3	3	438	1	0	0	0	0	1	0	0	0	18131	217	8	5	484	5	ZNF610	19	52869101	Missense_Mutation	SNP	A	TCGA-IQ-A61K-01A-11D-A30E-08	1402534	52869101	6259882	83	86263											
VN1R2	317701	broad.mit.edu	37	chr19	53762522	53762522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcaggtacaacacatCtgtaggaacaatctctaccc	16	7	6	12	0	2	0	0	0	2	0	3	1	2	1	1	2	6	3	1	2	7	3	rs143089101	byFrequency	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:53762522C>A	ENST00000341702.3	+	1	978	c.894C>A	c.(892-894)atC>atA	p.I298I	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	298					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TACAACACATCTGTAGGAACA	0.493													69	93					9.07738e-34	1.02939e-33	1	0	A	53762522	C	A	53762522	2	1	438	1	0	0	0	0	0	0	0	1	17275	903	32	2		2	VN1R2	19	53762522	Silent	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	893421	53762522	5366461	84	86264											
GPCPD1	56261	broad.mit.edu	37	chr20	5528493	5528493	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcaggcatccaatcataTatcctatgatgaaacaaata	16	12	5	8	0	2	2	2	2	0	0	4	2	4	2	2	1	1	2	2	1	7	5			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:5528493T>G	ENST00000379019.4	-	20	2045	c.1833A>C	c.(1831-1833)atA>atC	p.I611I	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	611	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TCCAATCATATATCCTATGAT	0.373													28	169					0	0	0	0	G	5528493	T	G	5528493	2	3	438	1	0	0	0	0	0	0	0	1	6652	1396	49	5		5	GPCPD1	20	5528493	Silent	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08		5528493	57497027	85	86265											
ZHX3	23051	broad.mit.edu	37	chr20	39831887	39831887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatctccaggtatcatcGctctggagcccttcaagttc	7	13	9	12	1	4	1	2	1	2	0	7	2	4	2	2	2	1	3	2	2	2	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:39831887G>A	ENST00000309060.3	-	4	2085	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	ZHX3_ENST00000560361.1_Missense_Mutation_p.A557V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A557V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A557V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A557V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A557V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	557					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGGTATCATCGCTCTGGAGCC	0.522													24	130					0	0	0	0	A	39831887	G	A	39831887	3	1	438	1	0	0	0	0	1	0	0	0	17772	1087	38	1	1208	1	ZHX3	20	39831887	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	34303394	39831887	23193633	86	86266											
ZNF512B	57473	broad.mit.edu	37	chr20	62599268	62599268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccactcttgctggaccccggGagccgacggcctccaacgca	7	5	11	18	4	1	0	0	0	1	0	2	3	2	2	6	3	3	2	6	3	1	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:62599268G>A	ENST00000450537.1	-	2	96	c.36C>T	c.(34-36)ctC>ctT	p.L12L	ZNF512B_ENST00000369888.1_Silent_p.L12L|ZNF512B_ENST00000217130.3_Silent_p.L12L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L12L(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGACCCCGGGAGCCGACGGC	0.597													56	79					0	0	0	0	A	62599268	G	A	62599268	2	1	438	1	0	0	0	0	0	0	0	1	18052	1161	41	2		2	ZNF512B	20	62599268	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	22767381	62599268	426252	87	86267											
FTCD	10841	broad.mit.edu	37	chr21	47571600	47571600	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccgtggccccccaacTggggacaaaggagctgggac	8	4	16	13	2	0	0	0	0	0	0	0	3	0	3	4	6	2	1	4	6	2	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr21:47571600T>G	ENST00000397748.1	-	5	551	c.508A>C	c.(508-510)Agt>Cgt	p.S170R	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.S170R|FTCD_ENST00000397746.3_Missense_Mutation_p.S170R|FTCD_ENST00000397743.1_Missense_Mutation_p.S170R|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000359679.2_Missense_Mutation_p.S170R|FTCD_ENST00000291670.5_Missense_Mutation_p.S170R			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	170	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCCCCCCAACTGGGGACAAAG	0.627													20	55					0	0	0	0	G	47571600	T	G	47571600	3	3	438	1	0	0	0	0	1	0	0	0	6129	1580	55	5	1157	5	FTCD	21	47571600	Missense_Mutation	SNP	T	TCGA-IQ-A61K-01A-11D-A30E-08		47571600	558295	88	86268											
LARGE	9215	broad.mit.edu	37	chr22	34000498	34000498	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcgtggccaggatctGctccgcaatggagtcagcaa	11	6	14	10	2	2	1	1	0	1	1	3	4	3	3	2	3	3	3	2	3	3	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr22:34000498G>A	ENST00000354992.2	-	6	1109	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q180*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q180*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	180					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCCAGGATCTGCTCCGCAATG	0.572													25	60					0	0	0	0	A	34000498	G	A	34000498	4	1	438	1	0	0	0	0	0	1	0	0	8680	1328	46	4	1776	4	LARGE	22	34000498	Nonsense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08		34000498	17304068	89	86269											
KLHL34	257240	broad.mit.edu	37	chrX	21675044	21675044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacctcccgtgccctgCgcccccccaccaacaagatg	8	5	6	22	2	1	1	1	0	0	1	2	1	2	1	8	0	3	0	8	0	2	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:21675044C>T	ENST00000379499.2	-	1	1404	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	288										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCGTGCCCTGCGCCCCCCCAC	0.697													3	29					0	0	0	0	T	21675044	C	T	21675044	3	4	438	1	0	0	0	0	1	0	0	0	8439	768	27	1	1075	1	KLHL34	23	21675044	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08		21675044	133595516	90	86270											
USP9X	8239	broad.mit.edu	37	chrX	41088843	41088843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggagatcttaaaagaaaGtggacctgggcagtggaatg	15	8	14	4	0	1	2	0	0	1	2	1	5	1	4	1	4	0	1	1	4	5	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:41088843G>A	ENST00000324545.7	+	43	7875	c.7242G>A	c.(7240-7242)aaG>aaA	p.K2414K	USP9X_ENST00000378308.2_Silent_p.K2414K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2414					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTAAAAGAAAGTGGACCTGGG	0.393													14	53					0	0	0	0	A	41088843	G	A	41088843	2	1	438	1	0	0	0	0	0	0	0	1	17186	1020	36	4		4	USP9X	23	41088843	Silent	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	19413799	41088843	114181717	91	86271											
FHL1	2273	broad.mit.edu	37	chrX	135288733	135288733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgccgcaagcccatcGgtgcggactccaaggtaacg	10	6	13	12	4	0	0	0	0	0	0	2	2	1	2	3	4	4	2	3	4	4	1			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:135288733G>A	ENST00000543669.1	+	2	853	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	FHL1_ENST00000345434.3_Missense_Mutation_p.G48S|FHL1_ENST00000535737.1_Missense_Mutation_p.G48S|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370683.1_Missense_Mutation_p.G64S|FHL1_ENST00000394153.2_Missense_Mutation_p.G48S|FHL1_ENST00000370676.3_Missense_Mutation_p.G64S|FHL1_ENST00000394155.2_Missense_Mutation_p.G48S|FHL1_ENST00000370690.3_Missense_Mutation_p.G48S|FHL1_ENST00000539015.1_Missense_Mutation_p.G77S	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	48	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.G48S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAAGCCCATCGGTGCGGACTC	0.562													61	276					0	0	0	0	A	135288733	G	A	135288733	3	1	438	1	0	0	0	0	1	0	0	0	5923	1116	39	1	261	1	FHL1	23	135288733	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	94199890	135288733	19981827	92	86272											
GPR112	139378	broad.mit.edu	37	chrX	135496331	135496331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttcagatgggagcagccGgtgtcagataaaggttggat	11	10	14	6	1	2	2	2	0	0	2	2	4	2	4	1	4	2	2	1	4	2	3			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:135496331G>A	ENST00000394143.1	+	25	9341	c.9050G>A	c.(9049-9051)cGg>cAg	p.R3017Q	GPR112_ENST00000412101.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R3017Q|GPR112_ENST00000287534.4_Missense_Mutation_p.R2736Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3017					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGAGCAGCCGGTGTCAGATA	0.353													30	171					0	0	0	0	A	135496331	G	A	135496331	3	1	438	1	0	0	0	0	1	0	0	0	6678	1116	39	1	9136	1	GPR112	23	135496331	Missense_Mutation	SNP	G	TCGA-IQ-A61K-01A-11D-A30E-08	207598	135496331	19774229	93	86273											
GABRE	2564	broad.mit.edu	37	chrX	151129820	151129820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgagcatgtggagtgagcatCcggcatcaatggtcatcctg	9	10	13	9	1	2	2	2	2	0	0	4	3	4	3	2	3	2	3	2	3	1	0			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:151129820C>G	ENST00000370325.1	-	5	634	c.581G>C	c.(580-582)gGa>gCa	p.G194A	GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Missense_Mutation_p.G194A			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	194					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGAGCATCCGGCATCAAT	0.507													29	121					0	0	0	0	G	151129820	C	G	151129820	3	3	438	1	0	0	0	0	1	0	0	0	6218	855	30	2	959	2	GABRE	23	151129820	Missense_Mutation	SNP	C	TCGA-IQ-A61K-01A-11D-A30E-08	15633489	151129820	4140740	94	86274											
RBP7	116362	broad.mit.edu	37	chr1	10067753	10067753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actactttgtgaaatttaaaGttggagaagaatttgatgaa	16	14	9	2	0	0	5	0	3	0	2	0	6	0	5	0	1	1	1	0	1	7	6			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:10067753G>A	ENST00000294435.7	+	2	242	c.199G>A	c.(199-201)Gtt>Att	p.V67I		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	67						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GAAATTTAAAGTTGGAGAAGA	0.418													4	46					0	0	0	0	A	10067753	G	A	10067753	3	1	439	1	0	0	0	0	1	0	0	0	13242	1029	36	4	205	4	RBP7	1	10067753	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		10067753	239182868	1	86275											
TMCO4	255104	broad.mit.edu	37	chr1	20027287	20027287	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccgttgatgatcctcccGgacaccaccttccggaaagg	9	8	10	14	3	0	2	0	2	0	0	3	4	3	4	6	3	1	1	6	3	2	3	rs138938855	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:20027287G>A	ENST00000294543.6	-	14	1597	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.S412S|TMCO4_ENST00000375127.1_Silent_p.S452S	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	452						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGATCCTCCCGGACACCACCT	0.567													4	131					0	0	0	0	A	20027287	G	A	20027287	2	1	439	1	0	0	0	0	0	0	0	1	16092	1103	39	1		1	TMCO4	1	20027287	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	9959534	20027287	229223334	2	86276											
RCC1	1104	broad.mit.edu	37	chr1	28861634	28861634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggtgcagctggatGtgcctgtggtaaaggtggcc	6	10	17	8	0	0	0	0	0	0	0	0	1	0	1	2	5	4	4	2	5	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:28861634G>A	ENST00000373833.6	+	8	799	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Missense_Mutation_p.V172M|RCC1_ENST00000373831.3_Missense_Mutation_p.V203M|RCC1_ENST00000373832.1_Missense_Mutation_p.V172M			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	172					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTGGATGTGCCTGTGGT	0.577													38	93					0	0	0	0	A	28861634	G	A	28861634	3	1	439	1	0	0	0	0	1	0	0	0	13255	1377	48	4	625	4	RCC1	1	28861634	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	8834347	28861634	220388987	3	86277											
ST3GAL3	6487	broad.mit.edu	37	chr1	44303916	44303916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattagccaccaagtacGcaaacttttcagagggagct	13	9	9	10	1	1	2	1	1	0	1	1	3	1	3	2	1	4	3	2	1	5	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:44303916G>A	ENST00000262915.3	+	6	619	c.442G>A	c.(442-444)Gca>Aca	p.A148T	ST3GAL3_ENST00000372366.1_Missense_Mutation_p.A78T|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.A94T|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.A79T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.A94T|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.A79T|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.A78T|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.A63T|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.A79T|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.A117T|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.A148T|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.A117T|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.A94T|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.A79T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.A133T|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.A63T|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.A79T|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.A133T	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	79					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CACCAAGTACGCAAACTTTTC	0.512													7	343					0	0	0	0	A	44303916	G	A	44303916	3	1	439	1	0	0	0	0	1	0	0	0	15306	1087	38	1	460	1	ST3GAL3	1	44303916	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	15442282	44303916	204946705	4	86278											
SSBP3	23648	broad.mit.edu	37	chr1	54871676	54871676	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcctttgcctttggcAaacatggtttgcagggaaga	9	10	13	9	1	0	1	0	0	0	1	0	3	0	2	3	3	4	3	3	3	2	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:54871676A>C	ENST00000371320.3	-	1	416	c.6T>G	c.(4-6)ttT>ttG	p.F2L	SSBP3_ENST00000371319.3_Missense_Mutation_p.F2L|SSBP3_ENST00000357475.4_Missense_Mutation_p.F2L	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGCCTTTGGCAAACATGGTTT	0.736													4	4					0	0	0	0	C	54871676	A	C	54871676	3	2	439	1	0	0	0	0	1	0	0	0	15271	127	5	5	1232	5	SSBP3	1	54871676	Missense_Mutation	SNP	A	TCGA-IQ-A61L-01A-11D-A30E-08	10567760	54871676	194378945	5	86279											
FLG	2312	broad.mit.edu	37	chr1	152278837	152278837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgattgttcctcattaCgtgttgttctgcttgcactt	4	19	7	11	1	2	1	1	1	1	0	4	1	4	1	2	0	3	5	2	0	1	7			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:152278837C>T	ENST00000368799.1	-	3	8560	c.8525G>A	c.(8524-8526)cGt>cAt	p.R2842H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2842	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.567									Ichthyosis				8	1042					0	0	0	0	T	152278837	C	T	152278837	3	4	439	1	0	0	0	0	1	0	0	0	5967	536	19	1	3664	1	FLG	1	152278837	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	97407161	152278837	96971784	6	86280											
CD1E	913	broad.mit.edu	37	chr1	158325766	158325766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcactcagcgaggggacGtcctgcctaatgctgacgag	8	6	16	11	3	1	1	1	1	0	0	2	4	2	2	2	4	3	2	2	4	1	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:158325766G>A	ENST00000444681.2	+	3	771	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	CD1E_ENST00000368156.1_Missense_Mutation_p.V169I|CD1E_ENST00000452291.2_Missense_Mutation_p.V70I|CD1E_ENST00000368167.3_Missense_Mutation_p.V259I|CD1E_ENST00000368165.3_Missense_Mutation_p.V169I|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368164.3_Missense_Mutation_p.V70I|CD1E_ENST00000368160.3_Missense_Mutation_p.V259I|CD1E_ENST00000368161.3_Missense_Mutation_p.V259I|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.V257I|CD1E_ENST00000368166.3_Missense_Mutation_p.V70I	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	259					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCGAGGGGACGTCCTGCCTAA	0.612													23	119					0	0	0	0	A	158325766	G	A	158325766	3	1	439	1	0	0	0	0	1	0	0	0	3007	1145	40	1	789	1	CD1E	1	158325766	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	6046929	158325766	90924855	7	86281											
LAMC1	3915	broad.mit.edu	37	chr1	183077530	183077530	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccatctctgattttgcTgtaggtggcaggtaagtaaa	10	14	11	6	0	1	1	0	1	1	0	2	1	1	1	1	3	2	5	1	3	5	6			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:183077530T>G	ENST00000258341.4	+	3	1100	c.843T>G	c.(841-843)gcT>gcG	p.A281A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	281	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGATTTTGCTGTAGGTGGCA	0.363													8	32					0	0	0	0	G	183077530	T	G	183077530	2	3	439	1	0	0	0	0	0	0	0	1	8667	1567	55	5		5	LAMC1	1	183077530	Silent	SNP	T	TCGA-IQ-A61L-01A-11D-A30E-08	24751764	183077530	66173091	8	86282											
CYP26B1	56603	broad.mit.edu	37	chr2	72360180	72360180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggtctgcagcacagtgCggtagccgccggaaatgggc	9	5	16	11	4	1	0	0	0	1	0	1	2	1	1	2	4	4	3	2	4	3	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:72360180C>T	ENST00000001146.2	-	5	1321	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R182H|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R298H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	373					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCACAGTGCGGTAGCCGCC	0.682													12	61					0	0	0	0	T	72360180	C	T	72360180	3	4	439	1	0	0	0	0	1	0	0	0	4188	768	27	1	428	1	CYP26B1	2	72360180	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		72360180	170839193	9	86283											
ST3GAL5	8869	broad.mit.edu	37	chr2	86075066	86075066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaataaccacacagcGccgacaggtcttggctttca	10	9	8	14	2	2	0	1	0	1	0	3	1	3	0	3	2	2	2	3	2	2	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:86075066G>A	ENST00000377332.3	-	4	688	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.R166C|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.R171C	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	194					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACCACACAGCGCCGACAGGTC	0.498													4	187					0	0	0	0	A	86075066	G	A	86075066	3	1	439	1	0	0	0	0	1	0	0	0	15308	1087	38	1	692	1	ST3GAL5	2	86075066	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	13714886	86075066	157124307	10	86284											
AFF3	3899	broad.mit.edu	37	chr2	100176836	100176836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcactcaccataatgcaGccagttgtttgtcttctggt	7	14	10	10	0	3	0	1	0	2	0	3	0	3	0	2	2	2	4	2	2	1	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:100176836G>T	ENST00000317233.4	-	20	3417	c.3182C>A	c.(3181-3183)gCt>gAt	p.A1061D	AFF3_ENST00000356421.2_Missense_Mutation_p.A1086D|AFF3_ENST00000409236.1_Missense_Mutation_p.A1061D|AFF3_ENST00000409579.1_Missense_Mutation_p.A1086D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1061					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCATAATGCAGCCAGTTGTTT	0.483													21	72					5.35047e-06	5.47026e-06	1	0	T	100176836	G	T	100176836	3	4	439	1	0	0	0	0	1	0	0	0	358	971	34	4	518	4	AFF3	2	100176836	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	14101770	100176836	143022537	11	86285											
TTC30A	92104	broad.mit.edu	37	chr2	178482598	178482598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttcctctgccctgggtgGcatgtcggtgagggtttctt	2	15	13	11	1	3	1	0	1	3	0	5	1	4	1	2	4	1	2	2	4	0	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:178482598G>A	ENST00000355689.4	-	1	1096	c.832C>T	c.(832-834)Cca>Tca	p.P278S	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	278					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCCCTGGGTGGCATGTCGGTG	0.507													5	149					0	0	0	0	A	178482598	G	A	178482598	3	1	439	1	0	0	0	0	1	0	0	0	16794	1203	42	4	1169	4	TTC30A	2	178482598	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	78305762	178482598	64716775	12	86286											
MPP4	58538	broad.mit.edu	37	chr2	202549820	202549820	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaccgtggatgatccTggccaccaagatgtcccctg	8	7	10	16	1	0	2	0	1	0	1	2	3	2	3	7	2	1	0	7	2	1	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:202549820T>C	ENST00000409474.3	-	7	748	c.541A>G	c.(541-543)Agg>Ggg	p.R181G	MPP4_ENST00000359962.5_Missense_Mutation_p.R181G|MPP4_ENST00000396886.3_Missense_Mutation_p.R137G|MPP4_ENST00000428900.2_Missense_Mutation_p.R181G|MPP4_ENST00000409143.1_Missense_Mutation_p.R154G|MPP4_ENST00000315506.7_Missense_Mutation_p.R181G|MPP4_ENST00000447335.2_Missense_Mutation_p.R181G	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	181	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						TGGATGATCCTGGCCACCAAG	0.522													15	10					0	0	0	0	C	202549820	T	C	202549820	3	2	439	1	0	0	0	0	1	0	0	0	9806	1579	55	5	1436	5	MPP4	2	202549820	Missense_Mutation	SNP	T	TCGA-IQ-A61L-01A-11D-A30E-08	24067222	202549820	40649553	13	86287											
STK16	8576	broad.mit.edu	37	chr2	220111842	220111842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgtgttgcagagaggtaCgctgtggaatgagatagaaa	13	10	14	4	1	0	3	0	1	0	3	0	6	0	4	0	2	2	4	0	2	4	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:220111842C>T	ENST00000409638.3	+	4	486	c.314C>T	c.(313-315)aCg>aTg	p.T105M	STK16_ENST00000486813.1_3'UTR|STK16_ENST00000396738.2_Missense_Mutation_p.T105M|STK16_ENST00000409743.1_Missense_Mutation_p.T105M|STK16_ENST00000409260.1_Missense_Mutation_p.T150M|STK16_ENST00000409516.3_Intron	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	105	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGAGGTACGCTGTGGAAT	0.517													23	20					0	0	0	0	T	220111842	C	T	220111842	3	4	439	1	0	0	0	0	1	0	0	0	15379	536	19	1	324	1	STK16	2	220111842	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	17562022	220111842	23087531	14	86288											
ARMC9	80210	broad.mit.edu	37	chr2	232141379	232141379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagcgatgattcaagaCggcctcatcttctggctggt	9	10	11	11	2	4	3	2	1	2	2	4	4	4	3	1	3	1	1	1	3	1	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:232141379C>T	ENST00000349938.4	+	15	1559	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	455							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGATTCAAGACGGCCTCATCT	0.512													4	208					0	0	0	0	T	232141379	C	T	232141379	2	4	439	1	0	0	0	0	0	0	0	1	962	535	19	1		1	ARMC9	2	232141379	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	12029537	232141379	11057994	15	86289											
EOMES	8320	broad.mit.edu	37	chr3	27759290	27759290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtcattttctgaagcGgtgtacatgctacaatataa	13	13	7	8	1	2	1	1	1	1	0	2	1	2	1	1	1	5	2	1	1	7	6			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:27759290G>A	ENST00000449599.1	-	6	1406	c.1389C>T	c.(1387-1389)acC>acT	p.T463T	EOMES_ENST00000295743.4_Intron|EOMES_ENST00000537516.1_Silent_p.T168T	NM_001278182.1|NM_005442.2	NP_001265111.1|NP_005433.2	O95936	EOMES_HUMAN	eomesodermin	460					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTCTGAAGCGGTGTACATGC	0.433													11	16					0	0	0	0	A	27759290	G	A	27759290	2	1	439	1	0	0	0	0	0	0	0	1	5185	1131	39	1		1	EOMES	3	27759290	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		27759290	170263140	16	86290											
ITIH3	3699	broad.mit.edu	37	chr3	52841918	52841918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccggatgtcagcacagaCgcatgggctgctgggtacga	9	7	14	11	3	2	1	2	0	0	1	2	3	2	2	1	3	3	5	1	3	1	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:52841918C>T	ENST00000449956.2	+	20	2423	c.2417C>T	c.(2416-2418)aCg>aTg	p.T806M	ITIH3_ENST00000416872.2_Missense_Mutation_p.T614M	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	806					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCAGCACAGACGCATGGGCTG	0.557													4	14					0	0	0	0	T	52841918	C	T	52841918	3	4	439	1	0	0	0	0	1	0	0	0	7958	536	19	1	2495	1	ITIH3	3	52841918	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	25082628	52841918	145180512	17	86291											
WDR52	55779	broad.mit.edu	37	chr3	113099872	113099872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagcttcaagaatataGccattttcacagataattag	15	12	8	6	0	2	2	2	0	0	2	2	3	2	3	1	1	2	1	1	1	6	7			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:113099872G>A	ENST00000393845.2	-	16	1992	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	WDR52_ENST00000295868.2_Silent_p.G642G|WDR52_ENST00000475568.1_5'UTR	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	642										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CAAGAATATAGCCATTTTCAC	0.299													8	35					0	0	0	0	A	113099872	G	A	113099872	2	1	439	1	0	0	0	0	0	0	0	1	17400	958	34	4		4	WDR52	3	113099872	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	60257954	113099872	84922558	18	86292											
CSTA	1475	broad.mit.edu	37	chr3	122060400	122060409	+	Frame_Shift_Del	DEL	CTGACGGGCT	CTGACGGGCT	-																															acaaaaacaaggatgacgagCtgacgggcttttagcagcat																								rs34173813	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:122060400_122060409delCTGACGGGCT	ENST00000264474.3	+	3	332_341	c.283_292delCTGACGGGCT	c.(283-294)ttfs	p.LTGF95fs		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	95					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	p.G97G(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		GGATGACGAGCTGACGGGCTTTTAGCAGCA	0.386													29	103	---	---	---	---					-	122060409	CTGACGGGCT	-	122060400	7	5	439	1	0	1	0	1	0	0	0	0	4013	796	28	0	293	0	CSTA	3	122060400	Frame_Shift_Del	DEL	CTGACGGGCT	TCGA-IQ-A61L-01A-11D-A30E-08	8960528	122060400	75962030	19	86293											
ALG3	10195	broad.mit.edu	37	chr3	183963099	183963099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcagcacaaagatggagtgGacacggtaagaggcgcagca	14	3	15	9	3	0	2	0	0	0	2	0	4	0	4	0	4	2	5	0	4	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:183963099G>A	ENST00000455059.1	-	4	826	c.372C>T	c.(370-372)gtC>gtT	p.V124V	ALG3_ENST00000397676.3_Silent_p.V164V|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Silent_p.V116V|ALG3_ENST00000418734.2_Silent_p.V108V			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	164					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATGGAGTGGACACGGTAAG	0.552													6	46					0	0	0	0	A	183963099	G	A	183963099	2	1	439	1	0	0	0	0	0	0	0	1	520	1161	41	2		2	ALG3	3	183963099	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	61902699	183963099	14059331	20	86294											
MUC4	4585	broad.mit.edu	37	chr3	195515383	195515383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcggtgacaggaagagggGtggtgtgacctgtggatact	8	10	18	5	1	0	3	0	2	0	1	1	5	0	5	1	6	1	0	1	6	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:195515383G>T	ENST00000463781.3	-	2	3527	c.3068C>A	c.(3067-3069)aCc>aAc	p.T1023N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T1023N|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1024	Repeat.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGAGGGGTGGTGTGACC	0.572													3	8					1	1	1	0	T	195515383	G	T	195515383	3	4	439	1	0	0	0	0	1	0	0	0	10048	1261	44	4		4	MUC4	3	195515383	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	11552284	195515383	2507047	21	86295											
LRCH3	84859	broad.mit.edu	37	chr3	197598208	197598209	+	Frame_Shift_Ins	INS	-	-	G																															ctttcagcatattgagtaccINSggttgaaagtgtctctacct																								rs150594593		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:197598208_197598209insG	ENST00000438796.2	+	19	2049_2050	c.2005_2006insG	c.(2005-2007)gttfs	p.V669fs	LRCH3_ENST00000536618.1_Frame_Shift_Ins_p.V264fs|LRCH3_ENST00000414675.2_Frame_Shift_Ins_p.V617fs|LRCH3_ENST00000334859.4_Frame_Shift_Ins_p.V669fs|LRCH3_ENST00000441090.2_Frame_Shift_Ins_p.V515fs|LRCH3_ENST00000425562.2_Frame_Shift_Ins_p.V669fs			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	669	CH.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TATTGAGTACCGGTTGAAAGTG	0.386													111	137	---	---	---	---					G	197598209	-	G	197598208	7	5	439	1	0	1	1	0	0	0	0	0	8998	643	23	0	2079	0	LRCH3	3	197598208	Frame_Shift_Ins	INS	-	TCGA-IQ-A61L-01A-11D-A30E-08	2082825	197598208	424222	22	86296											
TLR10	81793	broad.mit.edu	37	chr4	38775054	38775054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattatatgatcagaattttCatggaagagattgtggtggg	13	14	12	2	0	2	3	2	1	0	2	2	5	2	4	0	3	0	0	0	3	5	5			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:38775054C>G	ENST00000308973.4	-	4	2763	c.2158G>C	c.(2158-2160)Gaa>Caa	p.E720Q	TLR10_ENST00000506111.1_Missense_Mutation_p.E720Q|TLR10_ENST00000361424.2_Missense_Mutation_p.E720Q|TLR10_ENST00000508334.1_Missense_Mutation_p.E720Q	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	720	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCAGAATTTTCATGGAAGAGA	0.378													20	134					0	0	0	0	G	38775054	C	G	38775054	3	3	439	1	0	0	0	0	1	0	0	0	16044	835	29	2	281	2	TLR10	4	38775054	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		38775054	152379222	23	86297											
APBB2	323	broad.mit.edu	37	chr4	40818228	40818228	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggcggtggaggtggtcGaactttctgagaaggcggcc	6	9	18	8	3	1	1	0	1	1	1	2	4	1	2	1	7	2	1	1	7	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:40818228G>A	ENST00000295974.8	-	18	2787	c.2158C>T	c.(2158-2160)Cga>Tga	p.R720*	APBB2_ENST00000504305.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000502841.1_Nonsense_Mutation_p.R172*|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R699*|APBB2_ENST00000543538.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R698*|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R721*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	720	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGAGGTGGTCGAACTTTCTGA	0.423													22	114					0	0	0	0	A	40818228	G	A	40818228	4	1	439	1	0	0	0	0	0	1	0	0	762	1066	37	1	122	1	APBB2	4	40818228	Nonsense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	2043174	40818228	150336048	24	86298											
UGT2B4	7363	broad.mit.edu	37	chr4	70355182	70355182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggatcttggcaagggctGatgcaattacattggccctt	8	12	13	8	0	1	1	0	1	1	0	1	2	1	2	1	4	2	3	1	4	3	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:70355182G>A	ENST00000305107.6	-	3	1023	c.977C>T	c.(976-978)tCa>tTa	p.S326L	UGT2B4_ENST00000381096.3_Missense_Mutation_p.S190L|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S326L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	326					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GGCAAGGGCTGATGCAATTAC	0.403													21	164					0	0	0	0	A	70355182	G	A	70355182	3	1	439	1	0	0	0	0	1	0	0	0	17057	1294	45	2	625	2	UGT2B4	4	70355182	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	29536954	70355182	120799094	25	86299											
BMP2K	55589	broad.mit.edu	37	chr4	79791963	79791963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagacctggaaatggccctGaaattttattgggtcaggga	12	11	12	6	0	1	2	1	1	0	1	1	4	1	4	2	4	0	0	2	4	4	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:79791963G>A	ENST00000335016.5	+	11	1424	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	BMP2K_ENST00000502871.1_Missense_Mutation_p.E420K	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	420						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAATGGCCCTGAAATTTTATT	0.438													10	69					0	0	0	0	A	79791963	G	A	79791963	3	1	439	1	0	0	0	0	1	0	0	0	1465	1291	45	2	1300	2	BMP2K	4	79791963	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	9436781	79791963	111362313	26	86300											
TACR3	6870	broad.mit.edu	37	chr4	104511051	104511051	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtacatactgctttgccGgtttggatgaaacctggtgg	7	13	14	7	1	0	1	0	1	0	0	0	2	0	2	2	5	5	3	2	5	3	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:104511051G>T	ENST00000304883.2	-	5	1326	c.1186C>A	c.(1186-1188)Cgg>Agg	p.R396R	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	396						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTGCTTTGCCGGTTTGGATGA	0.498													7	181					0.00198382	0.00199841	1	0	T	104511051	G	T	104511051	2	4	439	1	0	0	0	0	0	0	0	1	15598	1115	39	3		3	TACR3	4	104511051	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	24719088	104511051	86643225	27	86301											
KIAA1109	84162	broad.mit.edu	37	chr4	123140583	123140583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcaacatcatccagctCtgggtggactgctgttggaa	9	11	11	10	0	3	0	2	0	1	0	4	2	4	2	1	3	3	3	1	3	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:123140583C>A	ENST00000264501.4	+	21	2709	c.2336C>A	c.(2335-2337)tCt>tAt	p.S779Y	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S779Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S779Y			Q2LD37	K1109_HUMAN	KIAA1109	779	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.S779C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCCAGCTCTGGGTGGACT	0.393													41	127					3.38236e-24	3.56448e-24	1	0	A	123140583	C	A	123140583	3	1	439	1	0	0	0	0	1	0	0	0	8259	913	32	2	2410	2	KIAA1109	4	123140583	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	18629532	123140583	68013693	28	86302											
FHDC1	85462	broad.mit.edu	37	chr4	153896526	153896526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatggaggagacctccCagctgactctgagtgacttc	9	8	13	11	0	1	4	0	3	1	1	3	6	2	5	2	3	1	2	2	3	0	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:153896526C>G	ENST00000511601.1	+	12	2271	c.2083C>G	c.(2083-2085)Cag>Gag	p.Q695E	FHDC1_ENST00000260008.3_Missense_Mutation_p.Q695E			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	695					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGACCTCCCAGCTGACTCT	0.617													9	45					0	0	0	0	G	153896526	C	G	153896526	3	3	439	1	0	0	0	0	1	0	0	0	5921	595	21	4	2125	4	FHDC1	4	153896526	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	30755943	153896526	37257750	29	86303											
KIAA0947	23379	broad.mit.edu	37	chr5	5457735	5457735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatgatcatttttttgatGaagatcttcaagctgcaatt	12	17	6	6	0	4	4	3	3	1	1	4	4	4	4	0	0	2	2	0	0	3	5			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:5457735G>A	ENST00000296564.7	+	12	1204	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	328										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTTTTTGATGAAGATCTTCA	0.438													29	139					0	0	0	0	A	5457735	G	A	5457735	3	1	439	1	0	0	0	0	1	0	0	0	8253	1291	45	2	1028	2	KIAA0947	5	5457735	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		5457735	175457525	30	86304											
PLK2	10769	broad.mit.edu	37	chr5	57755599	57755599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatctccggccccgagtgcGaatggtggtgatggtggtga	7	9	17	8	3	1	3	0	2	1	1	2	5	1	3	3	5	1	0	3	5	1	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:57755599G>A	ENST00000274289.3	-	1	488	c.188C>T	c.(187-189)tCg>tTg	p.S63L		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	63	Poly-His.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCCCGAGTGCGAATGGTGGTG	0.677													5	35					0	0	0	0	A	57755599	G	A	57755599	3	1	439	1	0	0	0	0	1	0	0	0	12168	1059	37	1	1925	1	PLK2	5	57755599	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	52297864	57755599	123159661	31	86305											
MCC	4163	broad.mit.edu	37	chr5	112363035	112363035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtgtgtggcctggagttCtcctcctctagcagagctat	5	14	12	10	0	2	1	0	0	2	1	4	2	3	2	3	3	2	3	3	3	2	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:112363035C>T	ENST00000302475.4	-	17	3017	c.2454G>A	c.(2452-2454)gaG>gaA	p.E818E	MCC_ENST00000408903.3_Silent_p.E1008E|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.E755E	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	818					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTA	0.512													6	64					0	0	0	0	T	112363035	C	T	112363035	2	4	439	1	0	0	0	0	0	0	0	1	9442	912	32	2		2	MCC	5	112363035	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	54607436	112363035	68552225	32	86306											
MCC	4163	broad.mit.edu	37	chr5	112458428	112458428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttttcggggatagagacaGaggtctggtcttggtccatg	7	12	16	6	1	2	2	0	0	2	2	4	4	3	3	1	6	0	1	1	6	1	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:112458428G>C	ENST00000302475.4	-	4	973	c.410C>G	c.(409-411)tCt>tGt	p.S137C	MCC_ENST00000408903.3_Missense_Mutation_p.S327C|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.S74C	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	137					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GATAGAGACAGAGGTCTGGTC	0.522													8	56					0	0	0	0	C	112458428	G	C	112458428	3	2	439	1	0	0	0	0	1	0	0	0	9442	942	33	2	2135	2	MCC	5	112458428	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	95393	112458428	68456832	33	86307											
PCDHA3	56145	broad.mit.edu	37	chr5	140180922	140180922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatggcaccttcgtgggccGcatcgcgcaggacctggggc	5	6	16	14	4	0	0	0	0	0	0	2	1	0	1	3	5	0	4	3	5	0	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:140180922G>A	ENST00000522353.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1												p.R47P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657													4	156					0	0	0	0	A	140180922	G	A	140180922	3	1	439	1	0	0	0	0	1	0	0	0	11596	1087	38	1	142	1	PCDHA3	5	140180922	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	27722494	140180922	40734338	34	86308											
CAP2	10486	broad.mit.edu	37	chr6	17543104	17543104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatgaccttgtgatttcaGagactgagctgaaacaagtg	13	10	12	6	0	1	5	1	4	0	1	1	7	1	6	1	1	2	1	1	1	3	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:17543104G>C	ENST00000229922.2	+	10	1571	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	CAP2_ENST00000493172.1_Missense_Mutation_p.E87Q|CAP2_ENST00000378990.2_Missense_Mutation_p.E321Q|CAP2_ENST00000465994.1_Missense_Mutation_p.E283Q|CAP2_ENST00000489374.1_Missense_Mutation_p.E235Q	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	347	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGTGATTTCAGAGACTGAGCT	0.348													23	120					0	0	0	0	C	17543104	G	C	17543104	3	2	439	1	0	0	0	0	1	0	0	0	2645	943	33	2	1073	2	CAP2	6	17543104	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		17543104	153571963	35	86309											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225550	26225550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgagatccgtcgctaccaGaagtctaccgagcttctaat	10	9	9	13	5	2	2	0	0	2	2	4	4	3	2	3	0	3	2	3	0	4	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26225550G>C	ENST00000360408.1	+	1	168	c.168G>C	c.(166-168)caG>caC	p.Q56H		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	56					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GTCGCTACCAGAAGTCTACCG	0.632													24	87					0	0	0	0	C	26225550	G	C	26225550	3	2	439	1	0	0	0	0	1	0	0	0	7209	933	33	2	170	2	HIST1H3E	6	26225550	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	8682446	26225550	144889517	36	86310											
BTN3A2	11118	broad.mit.edu	37	chr6	26368846	26368846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggccatggtgggtgaaGacgctgatctgccctgtcac	6	10	13	12	1	2	3	1	2	1	1	3	3	3	3	3	3	1	1	3	3	1	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26368846G>C	ENST00000356386.2	+	4	327	c.139G>C	c.(139-141)Gac>Cac	p.D47H	BTN3A2_ENST00000508906.2_Missense_Mutation_p.D5H|BTN3A2_ENST00000527422.1_Missense_Mutation_p.D47H|BTN3A2_ENST00000396948.1_Missense_Mutation_p.D47H|BTN3A2_ENST00000396934.3_Missense_Mutation_p.D24H|BTN3A2_ENST00000377708.2_Missense_Mutation_p.D47H|BTN3A2_ENST00000532994.1_Intron	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	47	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GGTGGGTGAAGACGCTGATCT	0.572													6	141					0	0	0	0	C	26368846	G	C	26368846	3	2	439	1	0	0	0	0	1	0	0	0	1572	942	33	2	145	2	BTN3A2	6	26368846	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	143296	26368846	144746221	37	86311											
BTN3A1	11119	broad.mit.edu	37	chr6	26406190	26406190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggccatggtgggtgaaGacgctgatctgccctgtcac	6	10	13	12	1	2	3	1	2	1	1	3	3	3	3	3	3	1	1	3	3	1	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26406190G>C	ENST00000289361.6	+	3	507	c.139G>C	c.(139-141)Gac>Cac	p.D47H	BTN3A1_ENST00000425234.2_Missense_Mutation_p.D47H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.D47H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.D47H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	47	Ig-like V-type 1.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGGGTGAAGACGCTGATCT	0.577													11	120					0	0	0	0	C	26406190	G	C	26406190	3	2	439	1	0	0	0	0	1	0	0	0	1571	942	33	2	145	2	BTN3A1	6	26406190	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	37344	26406190	144708877	38	86312											
SKIV2L	6499	broad.mit.edu	37	chr6	31930834	31930834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccttctgagtgccaccGtccccaacgcccttgagttt	6	12	7	16	2	2	2	1	2	1	0	4	2	4	2	6	0	2	1	6	0	1	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:31930834G>A	ENST00000375394.2	+	13	1482	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SKIV2L_ENST00000544581.1_Missense_Mutation_p.V264I	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	457	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GAGTGCCACCGTCCCCAACGC	0.592													4	105					0	0	0	0	A	31930834	G	A	31930834	3	1	439	1	0	0	0	0	1	0	0	0	14447	1145	40	1	1419	1	SKIV2L	6	31930834	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	5524644	31930834	139184233	39	86313											
DST	667	broad.mit.edu	37	chr6	56481654	56481654	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaagaagcctaattctgAattcggggtcaacaactcct	12	10	7	12	1	3	2	2	1	1	1	5	2	4	2	3	2	3	0	3	2	6	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:56481654A>G	ENST00000370765.6	-	24	6718	c.6611T>C	c.(6610-6612)tTc>tCc	p.F2204S	DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1562					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTAATTCTGAATTCGGGGTC	0.398													27	67					0	0	0	0	G	56481654	A	G	56481654	3	3	439	1	0	0	0	0	1	0	0	0	4819	246	9	5	13788	5	DST	6	56481654	Missense_Mutation	SNP	A	TCGA-IQ-A61L-01A-11D-A30E-08	24550820	56481654	114633413	40	86314											
COL19A1	1310	broad.mit.edu	37	chr6	70637859	70637859	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagctgccatgtttcgagtaCgaagaaacgccaaaaaggaa	16	7	10	8	3	0	1	0	0	0	1	1	4	0	2	2	1	4	3	2	1	7	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:70637859C>T	ENST00000322773.4	+	5	427	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	109	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTTCGAGTACGAAGAAACGC	0.433													22	72					0	0	0	0	T	70637859	C	T	70637859	4	4	439	1	0	0	0	0	0	1	0	0	3706	528	19	1	339	1	COL19A1	6	70637859	Nonsense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	14156205	70637859	100477208	41	86315											
SPACA1	81833	broad.mit.edu	37	chr6	88767395	88767395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatccaagtgtgttgtaCgggtagaagaatgccgtgga	11	10	15	5	2	0	3	0	1	0	2	1	4	1	4	2	2	2	3	2	2	6	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:88767395C>T	ENST00000237201.1	+	3	448	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	111						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		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;0.11)		GTGTGTTGTACGGGTAGAAGA	0.393													18	41					0	0	0	0	T	88767395	C	T	88767395	3	4	439	1	0	0	0	0	1	0	0	0	15060	527	19	1	341	1	SPACA1	6	88767395	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	18129536	88767395	82347672	42	86316											
AIM1	202	broad.mit.edu	37	chr6	106969030	106969030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggtcttcaatttcaactCgtcaagtacatcacactcca	14	11	4	12	1	5	0	4	0	1	0	7	0	6	0	1	1	2	1	1	1	5	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:106969030C>T	ENST00000369066.3	+	2	3210	c.2723C>T	c.(2722-2724)tCg>tTg	p.S908L		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	908							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AATTTCAACTCGTCAAGTACA	0.458													31	145					0	0	0	0	T	106969030	C	T	106969030	3	4	439	1	0	0	0	0	1	0	0	0	430	893	31	1	2729	1	AIM1	6	106969030	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	18201635	106969030	64146037	43	86317											
LAMA4	3910	broad.mit.edu	37	chr6	112463442	112463442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaagtcatccatactggttCtcgagtgcacttccacagct	9	13	7	12	1	2	0	1	0	1	0	5	1	4	0	2	1	3	3	2	1	2	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:112463442C>G	ENST00000230538.7	-	20	2943	c.2546G>C	c.(2545-2547)aGa>aCa	p.R849T	LAMA4_ENST00000424408.2_Missense_Mutation_p.R842T|LAMA4_ENST00000389463.4_Missense_Mutation_p.R842T|LAMA4_ENST00000522006.1_Missense_Mutation_p.R842T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	849	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATACTGGTTCTCGAGTGCAC	0.493													11	146					0	0	0	0	G	112463442	C	G	112463442	3	3	439	1	0	0	0	0	1	0	0	0	8661	913	32	2	3005	2	LAMA4	6	112463442	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	5494412	112463442	58651625	44	86318											
RFX6	222546	broad.mit.edu	37	chr6	117248535	117248535	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttcttcagtggcagctGtgcggggtctccatataact	8	12	11	10	1	3	1	1	0	2	1	4	1	3	1	1	3	3	2	1	3	2	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:117248535G>C	ENST00000332958.2	+	17	2247	c.2231G>C	c.(2230-2232)tGt>tCt	p.C744S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	744					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.C744F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTGGCAGCTGTGCGGGGTCT	0.522													18	46					0	0	0	0	C	117248535	G	C	117248535	3	2	439	1	0	0	0	0	1	0	0	0	13349	1377	48	4	2297	4	RFX6	6	117248535	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	4785093	117248535	53866532	45	86319											
CHST12	55501	broad.mit.edu	37	chr7	2472414	2472414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggccgcacacggggcCgccgctgcccacgcccgggc	4	3	14	20	6	1	0	0	0	1	0	1	0	1	0	5	4	1	2	5	4	1	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:2472414C>T	ENST00000258711.6	+	2	275	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	47					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CACACGGGGCCGCCGCTGCCC	0.642													66	122					0	0	0	0	T	2472414	C	T	2472414	3	4	439	1	0	0	0	0	1	0	0	0	3429	652	23	1	142	1	CHST12	7	2472414	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		2472414	156666249	46	86320											
HDAC9	9734	broad.mit.edu	37	chr7	18669051	18669051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagccccttactcaggcGgaaggatggaaatgttgtca	12	8	12	9	1	2	0	2	0	0	0	2	3	2	3	2	4	3	2	2	4	4	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:18669051G>A	ENST00000406451.3	+	7	884	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	HDAC9_ENST00000432645.2_Missense_Mutation_p.R245Q|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000441542.2_Missense_Mutation_p.R248Q|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000405010.3_Missense_Mutation_p.R245Q|HDAC9_ENST00000456174.2_Missense_Mutation_p.R217Q|HDAC9_ENST00000524023.1_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	245	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTACTCAGGCGGAAGGATGGA	0.478													15	32					0	0	0	0	A	18669051	G	A	18669051	3	1	439	1	0	0	0	0	1	0	0	0	7064	1116	39	1	765	1	HDAC9	7	18669051	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	16196637	18669051	140469612	47	86321											
ADCY1	107	broad.mit.edu	37	chr7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagaaccactgtcgccGcatcaagattctcggggact	11	7	12	11	3	2	2	1	0	1	2	4	5	2	3	2	3	1	1	2	3	3	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACTGTCGCCGCATCAAGATT	0.587													4	83					0	0	0	0	A	45688285	G	A	45688285	3	1	439	1	0	0	0	0	1	0	0	0	292	1087	38	1	1055	1	ADCY1	7	45688285	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	27019234	45688285	113450378	48	86322											
EGFR	1956	broad.mit.edu	37	chr7	55268930	55268930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagactccaacttctaccGtgccctgatggatgaagaag	12	9	9	11	1	1	4	0	2	1	2	2	5	2	5	3	1	4	0	3	1	5	3	rs149248025		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:55268930G>A	ENST00000275493.2	+	25	3173	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	EGFR_ENST00000455089.1_Missense_Mutation_p.R954H|EGFR_ENST00000454757.2_Missense_Mutation_p.R946H|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	999					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACTTCTACCGTGCCCTGATG	0.532		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			4	195					0	0	0	0	A	55268930	G	A	55268930	3	1	439	1	0	0	0	0	1	0	0	0	5003	1145	40	1	3358	1	EGFR	7	55268930	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	9580645	55268930	103869733	49	86323											
SAMD9	54809	broad.mit.edu	37	chr7	92731914	92731914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcttcactttgctgttgaGattctttgaatgcacttgag	8	18	8	7	0	3	3	1	3	2	1	3	4	3	3	0	0	2	3	0	0	2	7			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:92731914G>A	ENST00000379958.2	-	3	3766	c.3497C>T	c.(3496-3498)tCt>tTt	p.S1166F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1166						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCTGTTGAGATTCTTTGAA	0.388													24	128					0	0	0	0	A	92731914	G	A	92731914	3	1	439	1	0	0	0	0	1	0	0	0	13911	942	33	2	1276	2	SAMD9	7	92731914	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	37462984	92731914	66406749	50	86324											
SGK223	157285	broad.mit.edu	37	chr8	8233963	8233963	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatttttggtctctcttccCcagctgtgactcagcaattc	6	15	6	14	0	3	1	1	1	2	0	6	1	4	1	3	1	2	2	3	1	1	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr8:8233963C>T	ENST00000520004.1	-	3	2220	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.W652*			Q86YV5	SG223_HUMAN		652							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTCTCTTCCCCAGCTGTGAC	0.592													25	71					0	0	0	0	T	8233963	C	T	8233963	4	4	439	1	0	0	0	0	0	1	0	0	14297	624	22	4	2268	4	SGK223	8	8233963	Nonsense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		8233963	138130059	51	86325											
PTK2	5747	broad.mit.edu	37	chr8	141754816	141754816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgataggcatacaggatCaaagatgctagatccaaact	16	8	9	8	0	1	3	1	1	0	2	2	4	2	4	1	2	4	3	1	2	5	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr8:141754816C>T	ENST00000520151.1	-	4	413	c.352G>A	c.(352-354)Gat>Aat	p.D118N	PTK2_ENST00000517887.1_Silent_p.L567L|PTK2_ENST00000519419.1_Silent_p.L567L|PTK2_ENST00000538769.1_Silent_p.L191L|PTK2_ENST00000521059.1_Silent_p.L523L|PTK2_ENST00000519465.1_Silent_p.L151L|PTK2_ENST00000535192.1_Silent_p.L523L|PTK2_ENST00000395218.2_Silent_p.L523L|PTK2_ENST00000522684.1_Silent_p.L523L|PTK2_ENST00000340930.3_Silent_p.L523L			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CATACAGGATCAAAGATGCTA	0.353													4	53					0	0	0	0	T	141754816	C	T	141754816	3	4	439	1	0	0	0	0	1	0	0	0	12842	825	29	2	1645	2	PTK2	8	141754816	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	133520853	141754816	4609206	52	86326											
JAK2	3717	broad.mit.edu	37	chr9	5022188	5022188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtatgttgcagaagaaatCtgtattgctgcttctaaagc	12	13	10	6	0	2	2	0	0	2	2	2	3	2	2	0	0	4	6	0	0	6	6			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:5022188C>G	ENST00000381652.3	+	3	695	c.201C>G	c.(199-201)atC>atG	p.I67M	JAK2_ENST00000539801.1_Missense_Mutation_p.I67M	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	67	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CAGAAGAAATCTGTATTGCTG	0.358		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				14	64					0	0	0	0	G	5022188	C	G	5022188	3	3	439	1	0	0	0	0	1	0	0	0	7991	903	32	2	203	2	JAK2	9	5022188	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		5022188	136191243	53	86327											
TOPORS	10210	broad.mit.edu	37	chr9	32543994	32543994	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtacggtagcgaaatcGtcgatcaggggtgacaaaag	13	8	14	6	4	1	1	1	1	0	0	3	3	1	1	0	3	2	3	0	3	5	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:32543994G>A	ENST00000360538.2	-	3	645	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.R112*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	177	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAGCGAAATCGTCGATCAGGG	0.458													11	88					0	0	0	0	A	32543994	G	A	32543994	4	1	439	1	0	0	0	0	0	1	0	0	16465	1153	40	1	2612	1	TOPORS	9	32543994	Nonsense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	27521806	32543994	108669437	54	86328											
FBXW2	26190	broad.mit.edu	37	chr9	123538450	123538450	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatactttcacagtgaagTctgcagagccgctcaccaag	11	8	8	14	1	3	2	2	1	1	1	3	2	3	2	3	0	3	2	3	0	3	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:123538450T>A	ENST00000373926.3	-	5	927	c.740A>T	c.(739-741)gAc>gTc	p.D247V	FBXW2_ENST00000340778.5_Missense_Mutation_p.D182V|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	247					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CACAGTGAAGTCTGCAGAGCC	0.458													39	75					0	0	0	0	A	123538450	T	A	123538450	3	1	439	1	0	0	0	0	1	0	0	0	5811	1667	58	5	640	5	FBXW2	9	123538450	Missense_Mutation	SNP	T	TCGA-IQ-A61L-01A-11D-A30E-08	90994456	123538450	17674981	55	86329											
RALGPS1	9649	broad.mit.edu	37	chr9	129958828	129958828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaggcacctactggaCgacagtgtcctagagtcccg	12	6	11	12	2	0	1	0	0	0	1	2	3	2	2	3	2	2	2	3	2	4	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	371					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537													4	107					0	0	0	0	T	129958828	C	T	129958828	2	4	439	1	0	0	0	0	0	0	0	1	13099	535	19	1		1	RALGPS1	9	129958828	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	6420378	129958828	11254603	56	86330											
ABL1	25	broad.mit.edu	37	chr9	133748276	133748276	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgggagcccccgttctatAtcatcactgagttcatgacc	8	10	8	15	2	4	2	3	2	1	0	4	3	4	3	4	1	1	2	4	1	2	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:133748276A>G	ENST00000318560.5	+	6	1318	c.937A>G	c.(937-939)Atc>Gtc	p.I313V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	313	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCGTTCTATATCATCACTGA	0.557			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								26	88					0	0	0	0	G	133748276	A	G	133748276	3	3	439	1	0	0	0	0	1	0	0	0	92	449	16	5	1099	5	ABL1	9	133748276	Missense_Mutation	SNP	A	TCGA-IQ-A61L-01A-11D-A30E-08	3789448	133748276	7465155	57	86331											
ZEB1	6935	broad.mit.edu	37	chr10	31812948	31812948	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgcccaaaaagaaaatgCggaagacagaaaatggaatg	20	3	10	8	2	0	3	0	0	0	3	0	5	0	5	2	2	1	0	2	2	8	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:31812948C>A	ENST00000446923.2	+	8	3032	c.2641C>A	c.(2641-2643)Cgg>Agg	p.R881R	ZEB1_ENST00000361642.5_Silent_p.R898R|ZEB1_ENST00000320985.10_Silent_p.R897R|ZEB1_ENST00000560721.2_Silent_p.R877R|ZEB1_ENST00000542815.3_Silent_p.R830R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	897					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAAAATGCGGAAGACAGA	0.373													25	36					6.32553e-13	6.56513e-13	1	0	A	31812948	C	A	31812948	2	1	439	1	0	0	0	0	0	0	0	1	17718	759	27	3		3	ZEB1	10	31812948	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		31812948	103721799	58	86332											
WAPAL	23063	broad.mit.edu	37	chr10	88211793	88211793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatccccttctccactacaGatggaagaatcaaaagagca	15	8	6	12	0	3	3	2	0	1	3	5	4	4	4	3	1	2	1	3	1	5	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:88211793G>A	ENST00000298767.5	-	15	3517	c.3045C>T	c.(3043-3045)atC>atT	p.I1015I	WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1015	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTCCACTACAGATGGAAGAAT	0.428													8	71					0	0	0	0	A	88211793	G	A	88211793	2	1	439	1	0	0	0	0	0	0	0	1	17344	932	33	2		2	WAPAL	10	88211793	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	56398845	88211793	47322954	59	86333											
BAG3	9531	broad.mit.edu	37	chr10	121429589	121429589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcctcagaggtcccagtCacctctgcggggcatgccag	6	7	13	15	1	3	1	2	0	1	1	5	1	5	1	4	4	2	2	4	4	0	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:121429589C>T	ENST00000369085.3	+	2	713	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	136	WW 2.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGGTCCCAGTCACCTCTGCGG	0.652													18	152					0	0	0	0	T	121429589	C	T	121429589	3	4	439	1	0	0	0	0	1	0	0	0	1292	838	29	2	413	2	BAG3	10	121429589	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	33217796	121429589	14105158	60	86334											
MKI67	4288	broad.mit.edu	37	chr10	129902151	129902151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctactgggtttggtttcttCtttgcacgttgcttcaatac	5	19	8	9	1	4	0	1	0	3	0	4	0	4	0	0	2	4	5	0	2	3	8			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:129902151C>G	ENST00000368654.3	-	13	8328	c.7953G>C	c.(7951-7953)aaG>aaC	p.K2651N	MKI67_ENST00000368653.3_Missense_Mutation_p.K2291N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2651	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGGTTTCTTCTTTGCACGTT	0.527													22	151					0	0	0	0	G	129902151	C	G	129902151	3	3	439	1	0	0	0	0	1	0	0	0	9667	912	32	2	1829	2	MKI67	10	129902151	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	8472562	129902151	5632596	61	86335											
SLC43A3	29015	broad.mit.edu	37	chr11	57185284	57185284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcatcaggaggaaagtgCgtgctacatgccaggtactg	10	7	16	8	1	1	0	1	0	0	0	1	2	1	2	1	5	5	3	1	5	3	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:57185284C>T	ENST00000395123.2	-	8	912	c.608G>A	c.(607-609)cGc>cAc	p.R203H	SLC43A3_ENST00000529554.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R216H|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	203					transmembrane transport	integral to membrane		p.R203H(2)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGAAAGTGCGTGCTACATG	0.542													4	90					0	0	0	0	T	57185284	C	T	57185284	3	4	439	1	0	0	0	0	1	0	0	0	14722	768	27	1	895	1	SLC43A3	11	57185284	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		57185284	77821232	62	86336											
B3GAT3	26229	broad.mit.edu	37	chr11	62384033	62384033	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatccacaaggtggctcAgaagactgctctccaggtgg	9	8	14	10	0	2	2	1	0	1	2	4	3	3	3	2	5	1	2	2	5	2	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:62384033A>T	ENST00000531383.1	-	4	1060	c.854T>A	c.(853-855)cTg>cAg	p.L285Q	B3GAT3_ENST00000265471.5_Missense_Mutation_p.L285Q|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L285Q			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	285					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AAGGTGGCTCAGAAGACTGCT	0.582													24	91					0	0	0	0	T	62384033	A	T	62384033	3	4	439	1	0	0	0	0	1	0	0	0	1259	188	7	5	161	5	B3GAT3	11	62384033	Missense_Mutation	SNP	A	TCGA-IQ-A61L-01A-11D-A30E-08	5198749	62384033	72622483	63	86337											
ATG2A	23130	broad.mit.edu	37	chr11	64678549	64678549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccctctggaagcgtggtCgaaggtgatggaagtctcgg	8	8	17	8	3	2	1	0	1	2	0	4	4	2	3	1	6	1	0	1	6	3	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:64678549C>T	ENST00000421419.2	-	10	1541	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ATG2A_ENST00000377264.3_Missense_Mutation_p.R476Q			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	476							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAAGCGTGGTCGAAGGTGATG	0.602													15	76					0	0	0	0	T	64678549	C	T	64678549	3	4	439	1	0	0	0	0	1	0	0	0	1097	884	31	1	4517	1	ATG2A	11	64678549	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	2294516	64678549	70327967	64	86338											
PGR	5241	broad.mit.edu	37	chr11	100998717	100998717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggcgtcgggcgggtacGcgcagtcggggaagtcgcct	4	6	19	12	8	0	0	0	0	0	0	4	1	0	1	1	5	1	3	1	5	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:100998717G>A	ENST00000325455.5	-	1	2538	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A362V	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	362	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGGCGGGTACGCGCAGTCGGG	0.692													11	59					0	0	0	0	A	100998717	G	A	100998717	3	1	439	1	0	0	0	0	1	0	0	0	11877	1087	38	1	1748	1	PGR	11	100998717	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	36320168	100998717	34007799	65	86339											
CCDC15	80071	broad.mit.edu	37	chr11	124857973	124857973	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacctgcatgttctctcCaacgaccagaatattctacc	12	10	6	13	1	2	2	0	0	2	2	4	4	3	2	4	0	3	2	4	0	4	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:124857973C>T	ENST00000529051.1	+	8	2110	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	CCDC15_ENST00000344762.5_Silent_p.S617S			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	617						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ATGTTCTCTCCAACGACCAGA	0.388													15	105					0	0	0	0	T	124857973	C	T	124857973	2	4	439	1	0	0	0	0	0	0	0	1	2809	581	21	4		4	CCDC15	11	124857973	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	23859256	124857973	10148543	66	86340											
PKP2	5318	broad.mit.edu	37	chr12	33031091	33031091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccctggcctggggtacgtGagcagggccgggttggcagg	4	7	20	10	2	0	1	0	1	0	0	1	1	1	1	3	7	2	4	3	7	1	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr12:33031091G>A	ENST00000340811.4	-	3	831	c.723C>T	c.(721-723)ctC>ctT	p.L241L	PKP2_ENST00000070846.6_Silent_p.L241L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	241					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGGGTACGTGAGCAGGGCCG	0.617													11	59					0	0	0	0	A	33031091	G	A	33031091	2	1	439	1	0	0	0	0	0	0	0	1	12057	1277	45	2		2	PKP2	12	33031091	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		33031091	100820804	67	86341											
CCNT1	904	broad.mit.edu	37	chr12	49087931	49087931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatcaactcctgtaagtgCtaaattctcactagtccgat	12	13	6	10	1	2	1	2	1	1	0	5	2	4	1	2	0	2	2	2	0	5	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr12:49087931C>G	ENST00000261900.3	-	9	1288	c.1066G>C	c.(1066-1068)Gca>Cca	p.A356P		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	356					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCTGTAAGTGCTAAATTCTCA	0.453													36	104					0	0	0	0	G	49087931	C	G	49087931	3	3	439	1	0	0	0	0	1	0	0	0	2963	797	28	4	1118	4	CCNT1	12	49087931	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	16056840	49087931	84763964	68	86342											
FREM2	341640	broad.mit.edu	37	chr13	39430380	39430380	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacctgatgaaaatatgaTagcagagatgcaggtaagta	19	8	10	4	0	0	4	0	3	0	1	0	5	0	4	1	1	3	4	1	1	8	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr13:39430380T>A	ENST00000280481.7	+	12	7259	c.7043T>A	c.(7042-7044)aTa>aAa	p.I2348K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2348					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAAATATGATAGCAGAGATG	0.408													6	73					0	0	0	0	A	39430380	T	A	39430380	3	1	439	1	0	0	0	0	1	0	0	0	6093	1406	49	5	7089	5	FREM2	13	39430380	Missense_Mutation	SNP	T	TCGA-IQ-A61L-01A-11D-A30E-08		39430380	75739498	69	86343											
IRS2	8660	broad.mit.edu	37	chr13	110435125	110435125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcgggcagcttctggCttcgggggggccgcgatagg	4	6	19	12	5	1	0	0	0	1	0	2	1	1	0	2	6	1	3	2	6	1	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr13:110435125C>T	ENST00000375856.3	-	1	3790	c.3276G>A	c.(3274-3276)aaG>aaA	p.K1092K		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1092					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CAGCTTCTGGCTTCGGGGGGG	0.677													8	12					0	0	0	0	T	110435125	C	T	110435125	2	4	439	1	0	0	0	0	0	0	0	1	7894	796	28	4		4	IRS2	13	110435125	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	71004745	110435125	4734753	70	86344											
CHD8	57680	broad.mit.edu	37	chr14	21873401	21873401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggttgcagcacttgcGcaactccatcattgtgttaa	8	13	11	9	1	1	0	1	0	0	0	2	0	2	0	1	2	4	5	1	2	2	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:21873401G>A	ENST00000399982.2	-	15	3338	c.3274C>T	c.(3274-3276)Cgc>Tgc	p.R1092C	CHD8_ENST00000557364.1_Missense_Mutation_p.R1092C|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R813C	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1092					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGCACTTGCGCAACTCCATC	0.433													13	19					0	0	0	0	A	21873401	G	A	21873401	3	1	439	1	0	0	0	0	1	0	0	0	3360	1087	38	1	4563	1	CHD8	14	21873401	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		21873401	85476139	71	86345											
TM9SF1	10548	broad.mit.edu	37	chr14	24658622	24658622	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagttctgccatacagaactCagtccatcttgaggttaaca	12	12	7	10	0	3	2	1	1	2	1	4	2	4	2	2	1	4	2	2	1	4	5			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:24658622C>G	ENST00000530611.1	-	10	2480	c.2447G>C	c.(2446-2448)tGa>tCa	p.*816S	TM9SF1_ENST00000528669.1_Nonstop_Mutation_p.*590S|TM9SF1_ENST00000524835.1_Nonstop_Mutation_p.*520S|TM9SF1_ENST00000556387.1_Nonstop_Mutation_p.*816S|TM9SF1_ENST00000261789.4_Nonstop_Mutation_p.*607S|RP11-468E2.2_ENST00000561419.1_Missense_Mutation_p.144_144insQ			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATACAGAACTCAGTCCATCTT	0.433													11	114					0	0	0	0	G	24658622	C	G	24658622	4	3	439	1	0	0	0	0	0	0	0	0	16071	837	29	2	4	2	TM9SF1	14	24658622	Nonstop_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	2785221	24658622	82690918	72	86346											
ZFP36L1	677	broad.mit.edu	37	chr14	69256258	69256258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctaccctggcttagtcatCtgagatggaaagtctgctga	9	11	10	11	0	3	2	1	2	2	1	3	4	3	3	2	2	2	2	2	2	3	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:69256258C>T	ENST00000439696.2	-	2	1310	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D337N	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	337					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTTAGTCATCTGAGATGGAA	0.597											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	162					0	0	0	0	T	69256258	C	T	69256258	3	4	439	1	0	0	0	0	1	0	0	0	17741	913	32	2	11	2	ZFP36L1	14	69256258	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	44597636	69256258	38093282	73	86347											
YLPM1	56252	broad.mit.edu	37	chr14	75278337	75278337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctagagctcagtcatatcGagacaaaaaagaccattcct	15	10	6	10	1	3	3	2	0	1	3	5	4	4	3	2	0	1	1	2	0	5	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:75278337G>A	ENST00000325680.7	+	10	5367	c.5243G>A	c.(5242-5244)cGa>cAa	p.R1748Q	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1553Q|YLPM1_ENST00000552421.1_Missense_Mutation_p.R1042Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGTCATATCGAGACAAAAAA	0.433													10	44					0	0	0	0	A	75278337	G	A	75278337	3	1	439	1	0	0	0	0	1	0	0	0	17582	1058	37	1	5281	1	YLPM1	14	75278337	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	6022079	75278337	32071203	74	86348											
CASC5	57082	broad.mit.edu	37	chr15	40937256	40937257	+	Frame_Shift_Ins	INS	-	-	A																															tataaataagaacctgtgggINSaaaaaatgagacactgctct																										TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr15:40937256_40937257insA	ENST00000346991.5	+	16	6328_6329	c.5938_5939insA	c.(5938-5940)aaafs	p.K1980fs	CTD-2339L15.3_ENST00000559841.1_RNA|CASC5_ENST00000399668.2_Frame_Shift_Ins_p.K1954fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1980	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACCTGTGGGAAAAAATGAGA	0.347													39	131	---	---	---	---					A	40937257	-	A	40937256	7	5	439	1	0	1	1	0	0	0	0	0	2688	1175	41	0	5996	0	CASC5	15	40937256	Frame_Shift_Ins	INS	-	TCGA-IQ-A61L-01A-11D-A30E-08		40937256	61594136	75	86349											
LRRK1	79705	broad.mit.edu	37	chr15	101569222	101569222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggacaccagccacggcctGaggaacctctacttcctcga	9	6	9	17	3	1	1	0	1	1	0	3	4	2	3	6	3	3	0	6	3	2	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr15:101569222G>A	ENST00000284395.5	+	21	3139	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L	LRRK1_ENST00000388948.3_Silent_p.L916L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	916					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCACGGCCTGAGGAACCTCT	0.547													62	142					0	0	0	0	A	101569222	G	A	101569222	2	1	439	1	0	0	0	0	0	0	0	1	9096	1277	45	2		2	LRRK1	15	101569222	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	60631966	101569222	962170	76	86350											
CACNA1H	8912	broad.mit.edu	37	chr16	1265004	1265004	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctcaagtactgcaactaCgtcttcaccatcgtgtttgt	8	13	7	13	2	3	0	2	0	1	0	4	0	3	0	2	0	4	3	2	0	4	4	rs57204601		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:1265004C>T	ENST00000348261.5	+	28	5210	c.4962C>T	c.(4960-4962)taC>taT	p.Y1654Y	CACNA1H_ENST00000565831.1_Silent_p.Y1648Y|CACNA1H_ENST00000358590.4_Silent_p.Y1648Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1654					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACTGCAACTACGTCTTCACCA	0.622													10	18					0	0	0	0	T	1265004	C	T	1265004	2	4	439	1	0	0	0	0	0	0	0	1	2570	547	19	1		1	CACNA1H	16	1265004	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		1265004	89089749	77	86351											
GPR97	222487	broad.mit.edu	37	chr16	57714215	57714228	+	Frame_Shift_Del	DEL	GAGGTCAGACCTGA	GAGGTCAGACCTGA	-																															cttctgagggctgctccacgGaggtcagacctgaggggacc																										TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:57714215_57714228delGAGGTCAGACCTGA	ENST00000333493.4	+	7	867_880	c.706_719delGAGGTCAGACCTGA	c.(706-720)gfs	p.EVRPE236fs	GPR97_ENST00000327655.6_Frame_Shift_Del_p.EVRPE26fs|GPR97_ENST00000450388.3_Frame_Shift_Del_p.EVRPE116fs	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	236	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCTCCACGGAGGTCAGACCTGAGGGGACCGTG	0.631													9	58	---	---	---	---					-	57714228	GAGGTCAGACCTGA	-	57714215	7	5	439	1	0	1	0	1	0	0	0	0	6770	1175	41	0	732	0	GPR97	16	57714215	Frame_Shift_Del	DEL	GAGGTCAGACCTGA	TCGA-IQ-A61L-01A-11D-A30E-08	56449211	57714215	32640538	78	86352											
SF3B3	23450	broad.mit.edu	37	chr16	70603936	70603936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcatgaactaccatgtcGgggagacggtgctgtccttg	8	11	13	9	2	1	3	1	2	0	1	3	4	2	3	2	3	3	1	2	3	2	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:70603936G>A	ENST00000302516.5	+	24	3503	c.3292G>A	c.(3292-3294)Ggg>Agg	p.G1098R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1098					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTACCATGTCGGGGAGACGGT	0.552													20	45					0	0	0	0	A	70603936	G	A	70603936	3	1	439	1	0	0	0	0	1	0	0	0	14239	1116	39	1	3382	1	SF3B3	16	70603936	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	12889721	70603936	19750817	79	86353											
IRF8	3394	broad.mit.edu	37	chr16	85946766	85946766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgattacatggggatgatCaaaaggagcccttccccgcc	11	7	11	12	2	1	1	1	1	0	0	2	5	2	3	4	3	2	0	4	3	3	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:85946766C>G	ENST00000268638.5	+	5	899	c.477C>G	c.(475-477)atC>atG	p.I159M		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	159					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGGGGATGATCAAAAGGAGCC	0.612													18	201					0	0	0	0	G	85946766	C	G	85946766	3	3	439	1	0	0	0	0	1	0	0	0	7889	816	29	2	491	2	IRF8	16	85946766	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	15342830	85946766	4407987	80	86354											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T																															tgatggtgaggatgggcctcCggttcatgccgcccatgcag																								rs11540652		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			30	65					0	0	0	0	T	7577538	C	T	7577538	3	4	439	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		7577538	73617672	81	86355	1078	2									
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A																															gatggtgaggatgggcctccGgttcatgccgcccatgcagg																								rs121912651		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			23	73					0	0	0	0	A	7577539	G	A	7577539	3	1	439	1	0	0	0	0	1	0	0	0	16476	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	1	7577539	73617671	82	86356	1078	2									
MYO15A	51168	broad.mit.edu	37	chr17	18035781	18035781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctacaggccaaaaacgagagGaattaccacatcttctacga	16	7	7	11	2	2	1	0	0	2	1	2	4	2	2	2	2	4	0	2	2	6	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:18035781G>A	ENST00000205890.5	+	11	4559	c.4221G>A	c.(4219-4221)agG>agA	p.R1407R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1407	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAAACGAGAGGAATTACCACA	0.572													32	59					0	0	0	0	A	18035781	G	A	18035781	2	1	439	1	0	0	0	0	0	0	0	1	10133	1165	41	2		2	MYO15A	17	18035781	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	10458242	18035781	63159429	83	86357											
NEK8	284086	broad.mit.edu	37	chr17	27068099	27068099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctctcccccatagcctCgggtgattgctacacttttg	5	14	7	15	1	1	1	0	1	1	0	4	1	2	1	4	1	3	1	4	1	2	6	rs149987249		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:27068099C>T	ENST00000268766.6	+	13	1770	c.1736C>T	c.(1735-1737)tCg>tTg	p.S579L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	579						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCCATAGCCTCGGGTGATTGC	0.597													4	138					0	0	0	0	T	27068099	C	T	27068099	3	4	439	1	0	0	0	0	1	0	0	0	10400	893	31	1	1786	1	NEK8	17	27068099	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	9032318	27068099	54127111	84	86358											
VAT1	10493	broad.mit.edu	37	chr17	41170802	41170802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaccggttcaacaccatCacccggtctcctgccttgaa	8	9	7	17	2	3	2	2	2	1	0	4	2	3	2	6	2	2	1	6	2	2	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:41170802C>T	ENST00000355653.3	-	2	497	c.402G>A	c.(400-402)gtG>gtA	p.V134V	VAT1_ENST00000587173.1_Silent_p.V66V|VAT1_ENST00000420567.3_5'UTR	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	134						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCAACACCATCACCCGGTCTC	0.522													9	72					0	0	0	0	T	41170802	C	T	41170802	2	4	439	1	0	0	0	0	0	0	0	1	17225	813	29	2		2	VAT1	17	41170802	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	14102703	41170802	40024408	85	86359											
NMT1	4836	broad.mit.edu	37	chr17	43163883	43163883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcttgtccagatgaactCtttgccagcagagaggatcc	9	12	10	10	0	2	3	0	1	2	2	4	5	4	4	3	1	3	1	3	1	1	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:43163883C>G	ENST00000592782.1	+	4	379	c.248C>G	c.(247-249)tCt>tGt	p.S83C	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.S83C			P30419	NMT1_HUMAN	N-myristoyltransferase 1	83					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CAGATGAACTCTTTGCCAGCA	0.473													3	28					0	0	0	0	G	43163883	C	G	43163883	3	3	439	1	0	0	0	0	1	0	0	0	10573	913	32	2	258	2	NMT1	17	43163883	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	1993081	43163883	38031327	86	86360			1	134		2	2	20	C		6.751134e-05
NMT1	4836	broad.mit.edu	37	chr17	43163902	43163902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctttgccagcagagaggatCcaggaaatacagaaggccat	14	7	11	9	0	1	2	0	0	1	2	2	5	2	4	3	3	3	1	3	3	3	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:43163902C>G	ENST00000592782.1	+	4	398	c.267C>G	c.(265-267)atC>atG	p.I89M	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.I89M			P30419	NMT1_HUMAN	N-myristoyltransferase 1	89					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CAGAGAGGATCCAGGAAATAC	0.463													5	28					0	0	0	0	G	43163902	C	G	43163902	3	3	439	1	0	0	0	0	1	0	0	0	10573	845	30	2	277	2	NMT1	17	43163902	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	19	43163902	38031308	87	86361			1	134		2	2	20	C		6.751134e-05
NEDD4L	23327	broad.mit.edu	37	chr18	56033442	56033442	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaacccctactacggccTctttgagtactctgccacgt	7	12	7	15	2	3	1	1	1	2	0	3	1	3	1	4	1	5	2	4	1	4	5			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr18:56033442T>A	ENST00000456986.1	+	21	2282	c.1682T>A	c.(1681-1683)cTc>cAc	p.L561H	NEDD4L_ENST00000435432.2_Missense_Mutation_p.L541H|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L578H|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L618H|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L662H|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L541H|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L682H|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L561H|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L674H|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L654H|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L542H	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	682	WW 4.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TACTACGGCCTCTTTGAGTAC	0.458													5	11					0	0	0	0	A	56033442	T	A	56033442	3	1	439	1	0	0	0	0	1	0	0	0	10381	1551	54	5	2155	5	NEDD4L	18	56033442	Missense_Mutation	SNP	T	TCGA-IQ-A61L-01A-11D-A30E-08		56033442	22043806	88	86362											
ALPK2	115701	broad.mit.edu	37	chr18	56184211	56184211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccataggcaatggcattgtGcaccttaagcacacaggcat	12	8	9	12	0	0	0	0	0	0	0	0	0	0	0	2	3	2	5	2	3	3	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr18:56184211G>A	ENST00000361673.3	-	9	6082	c.5869C>T	c.(5869-5871)Cac>Tac	p.H1957Y		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1957	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATGGCATTGTGCACCTTAAGC	0.537													28	112					0	0	0	0	A	56184211	G	A	56184211	3	1	439	1	0	0	0	0	1	0	0	0	545	1319	46	4	663	4	ALPK2	18	56184211	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	150769	56184211	21893037	89	86363											
ZNF564	163050	broad.mit.edu	37	chr19	12638522	12638522	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttctctccatattcctGatagtcatatggtttgtgtc	6	19	8	8	0	2	1	1	1	1	0	6	1	4	1	2	2	0	2	2	2	3	6			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:12638522G>C	ENST00000339282.7	-	4	596	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCATATTCCTGATAGTCATAT	0.408													11	63					0	0	0	0	C	12638522	G	C	12638522	3	2	439	1	0	0	0	0	1	0	0	0	18090	1299	45	2	1265	2	ZNF564	19	12638522	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		12638522	46490461	90	86364											
BRD4	23476	broad.mit.edu	37	chr19	15383896	15383896	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatctcgtcccagggccGctctccgcagacatgctagt	7	9	9	16	3	3	1	1	0	2	1	6	1	4	1	3	1	1	3	3	1	2	1	rs147477529		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:15383896G>A	ENST00000263377.2	-	2	236	c.15C>T	c.(13-15)agC>agT	p.S5S	BRD4_ENST00000371835.4_Silent_p.S5S|BRD4_ENST00000360016.5_Silent_p.S5S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	5					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCCAGGGCCGCTCTCCGCAG	0.547			T	C15orf55	lethal midline carcinoma of young people								4	154					0	0	0	0	A	15383896	G	A	15383896	2	1	439	1	0	0	0	0	0	0	0	1	1512	1078	38	1		1	BRD4	19	15383896	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	2745374	15383896	43745087	91	86365											
WIZ	58525	broad.mit.edu	37	chr19	15538235	15538235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgtaccactcggtcacGcccatttgccgcagatggga	8	9	11	13	4	1	2	1	1	0	1	2	3	1	3	3	2	2	2	3	2	1	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:15538235G>A	ENST00000389282.4	-	6	3423	c.3210C>T	c.(3208-3210)ggC>ggT	p.G1070G	WIZ_ENST00000545156.1_Silent_p.G384G|WIZ_ENST00000599910.1_Silent_p.G387G|WIZ_ENST00000263381.6_Silent_p.G213G|WIZ_ENST00000599686.2_Silent_p.G254G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1070						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTCGGTCACGCCCATTTGCC	0.637													13	45					0	0	0	0	A	15538235	G	A	15538235	2	1	439	1	0	0	0	0	0	0	0	1	17471	1074	38	1		1	WIZ	19	15538235	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	154339	15538235	43590748	92	86366											
FCGBP	8857	broad.mit.edu	37	chr19	40395941	40395941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgatgtaggccaggccGggtgccgcaggtctgagcca	9	5	15	12	3	1	1	0	1	1	0	1	2	1	1	5	4	3	2	5	4	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:40395941G>A	ENST00000221347.6	-	15	7463	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2486	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGCCAGGCCGGGTGCCGCAG	0.632													5	251					0	0	0	0	A	40395941	G	A	40395941	3	1	439	1	0	0	0	0	1	0	0	0	5823	1115	39	1	8849	1	FCGBP	19	40395941	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	24857706	40395941	18733042	93	86367											
B3GNT8	374907	broad.mit.edu	37	chr19	41932148	41932148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctagcaggaagagcagcCggatccctggagctggactg	10	5	14	12	1	0	1	0	0	0	1	1	5	1	5	3	4	4	3	3	4	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:41932148C>T	ENST00000321702.2	-	3	989	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	179					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						GAAGAGCAGCCGGATCCCTGG	0.637													40	62					0	0	0	0	T	41932148	C	T	41932148	3	4	439	1	0	0	0	0	1	0	0	0	1267	652	23	1	661	1	B3GNT8	19	41932148	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	1536207	41932148	17196835	94	86368											
PSG3	5671	broad.mit.edu	37	chr19	43237035	43237035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtactttgtgacaccaaataGaaagagggtccttttgtttt	11	15	9	6	0	0	3	0	1	0	2	1	3	1	3	2	1	1	2	2	1	4	7			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:43237035G>C	ENST00000327495.5	-	3	794	c.610C>G	c.(610-612)Cta>Gta	p.L204V	PSG3_ENST00000595140.1_Missense_Mutation_p.L204V	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	204	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ACACCAAATAGAAAGAGGGTC	0.517													154	315					0	0	0	0	C	43237035	G	C	43237035	3	2	439	1	0	0	0	0	1	0	0	0	12735	933	33	2	692	2	PSG3	19	43237035	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	1304887	43237035	15891948	95	86369											
CKM	1158	broad.mit.edu	37	chr19	45822923	45822923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtcggggtactcctcctCaggcttgtaattcagcttga	7	12	12	10	1	2	1	2	1	0	0	5	2	4	1	2	4	2	4	2	4	2	5			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:45822923C>T	ENST00000221476.3	-	2	223	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	17	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TACTCCTCCTCAGGCTTGTAA	0.527													24	115					0	0	0	0	T	45822923	C	T	45822923	3	4	439	1	0	0	0	0	1	0	0	0	3478	835	29	2	1124	2	CKM	19	45822923	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	2585888	45822923	13306060	96	86370											
ERCC2	2068	broad.mit.edu	37	chr19	45867709	45867709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcctcgtcgaagaccaCgacggccttgcgggccagtt	6	7	15	13	5	0	1	0	0	0	1	2	3	0	1	4	3	1	1	4	3	1	2			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:45867709C>T	ENST00000391945.4	-	8	768	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Missense_Mutation_p.V153M|ERCC2_ENST00000391940.4_Missense_Mutation_p.V207M|ERCC2_ENST00000485403.2_Missense_Mutation_p.V207M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	231	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCGAAGACCACGACGGCCTTG	0.632			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	46					0	0	0	0	T	45867709	C	T	45867709	3	4	439	1	0	0	0	0	1	0	0	0	5251	536	19	1	1712	1	ERCC2	19	45867709	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	44786	45867709	13261274	97	86371											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378164	55378164	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccacgagcaccacagtCaggtcttgagggggttttct	7	10	12	12	1	3	1	1	1	2	0	3	2	3	1	2	3	2	2	2	3	0	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:55378164C>A	ENST00000326321.3	+	9	1379	c.1346C>A	c.(1345-1347)tCa>tAa	p.S449*	KIR3DL1_ENST00000402254.2_Nonsense_Mutation_p.S449*|KIR3DL2_ENST00000270442.5_Nonsense_Mutation_p.S432*	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	449					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCACCACAGTCAGGTCTTGAG	0.537													52	203					3.4597e-24	3.61816e-24	1	0	A	55378164	C	A	55378164	4	1	439	1	0	0	0	0	0	1	0	0	8373	838	29	2	1380	2	KIR3DL2	19	55378164	Nonsense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	9510455	55378164	3750819	98	86372											
NLRP2	55655	broad.mit.edu	37	chr19	55494409	55494409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctgcggggcgcgctgcGgacgctgagcctcctggccg	4	5	17	15	6	0	1	0	1	0	0	1	2	1	2	3	4	4	3	3	4	0	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:55494409G>A	ENST00000543010.1	+	6	1486	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	NLRP2_ENST00000263437.6_Missense_Mutation_p.R445Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.R426Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.R426Q|NLRP2_ENST00000538819.1_Missense_Mutation_p.R424Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.R448Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.R424Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.R425Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	448	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGCGCGCTGCGGACGCTGAGC	0.721													8	49					0	0	0	0	A	55494409	G	A	55494409	3	1	439	1	0	0	0	0	1	0	0	0	10547	1116	39	1	1361	1	NLRP2	19	55494409	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	116245	55494409	3634574	99	86373											
GGT7	2686	broad.mit.edu	37	chr20	33444658	33444658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagggcgctgtaattgctGaagtcctcttcggttatgac	9	12	11	9	2	1	2	0	2	1	0	3	2	2	2	1	2	1	4	1	2	4	4			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:33444658G>A	ENST00000336431.5	-	8	1097	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	351					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGTAATTGCTGAAGTCCTCTT	0.587													8	46					0	0	0	0	A	33444658	G	A	33444658	2	1	439	1	0	0	0	0	0	0	0	1	6415	1281	45	2		2	GGT7	20	33444658	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		33444658	29580862	100	86374											
SLC12A5	57468	broad.mit.edu	37	chr20	44682326	44682326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcatttacgcatcactgCggaggtcgaggtggtggaga	9	10	15	7	3	2	1	2	0	0	1	3	4	2	2	0	5	2	2	0	5	2	3			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:44682326C>T	ENST00000454036.1	+	20	2802	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A886V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	909					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.A886E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGCATCACTGCGGAGGTCGAG	0.537													124	131					0	0	0	0	T	44682326	C	T	44682326	3	4	439	1	0	0	0	0	1	0	0	0	14474	768	27	1	2860	1	SLC12A5	20	44682326	Missense_Mutation	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	11237668	44682326	18343194	101	86375											
PMEPA1	56937	broad.mit.edu	37	chr20	56227195	56227195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgtgtgtggtggagccGggtcccctccagcaaggagg	6	8	18	9	1	0	0	0	0	0	0	2	3	2	2	4	5	2	1	4	5	1	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:56227195G>A	ENST00000341744.3	-	4	1097	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	PMEPA1_ENST00000395814.1_Missense_Mutation_p.R210W|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R225W|PMEPA1_ENST00000395816.3_Missense_Mutation_p.R210W|PMEPA1_ENST00000265626.4_Missense_Mutation_p.R210W	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	260					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGGTGGAGCCGGGTCCCCTCC	0.662													3	13					0	0	0	0	A	56227195	G	A	56227195	3	1	439	1	0	0	0	0	1	0	0	0	12204	1115	39	1	89	1	PMEPA1	20	56227195	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	11544869	56227195	6798325	102	86376											
DOPEY2	9980	broad.mit.edu	37	chr21	37618699	37618699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtcccgggagtggcagaGagccctgaacttccagcagg	8	6	14	13	1	0	2	0	1	0	1	2	4	2	3	4	3	3	2	4	3	1	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr21:37618699G>C	ENST00000399151.3	+	19	4506	c.4421G>C	c.(4420-4422)aGa>aCa	p.R1474T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1474					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				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						GAGTGGCAGAGAGCCCTGAAC	0.647													3	21					0	0	0	0	C	37618699	G	C	37618699	3	2	439	1	0	0	0	0	1	0	0	0	4744	942	33	2	4491	2	DOPEY2	21	37618699	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		37618699	10511196	103	86377											
MYO18B	84700	broad.mit.edu	37	chr22	26165205	26165205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggctggccaggaagccGtgggcaggaagcagaggagc	10	2	21	8	1	0	1	0	0	0	1	0	5	0	5	2	7	3	3	2	7	2	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:26165205G>A	ENST00000335473.7	+	4	1572	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	MYO18B_ENST00000407587.2_Missense_Mutation_p.R441H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R441H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	441						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGGAAGCCGTGGGCAGGAA	0.632													9	20					0	0	0	0	A	26165205	G	A	26165205	3	1	439	1	0	0	0	0	1	0	0	0	10136	1145	40	1	1332	1	MYO18B	22	26165205	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08		26165205	25139361	104	86378											
SMTN	6525	broad.mit.edu	37	chr22	31500330	31500330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggactgtgtgcccctggtgGaggtggacgacatgatgatc	7	10	16	8	1	0	2	0	2	0	0	1	6	0	5	2	5	1	0	2	5	0	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:31500330G>A	ENST00000358743.1	+	21	2919	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|RP3-412A9.10_ENST00000504335.1_RNA	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	878	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCCTGGTGGAGGTGGACGA	0.627													17	95					0	0	0	0	A	31500330	G	A	31500330	3	1	439	1	0	0	0	0	1	0	0	0	14902	1175	41	2	2855	2	SMTN	22	31500330	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	5335125	31500330	19804236	105	86379											
CARD10	29775	broad.mit.edu	37	chr22	37898681	37898681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaaggccacacgctgtcaGaggatgaggacgaagagagg	14	3	15	9	2	1	3	1	1	0	2	1	7	1	5	2	4	0	1	2	4	2	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:37898681G>A	ENST00000403299.1	-	12	1931	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	CARD10_ENST00000406271.3_Missense_Mutation_p.S286F|CARD10_ENST00000251973.5_Missense_Mutation_p.S572F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	572	Poly-Ser.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACGCTGTCAGAGGATGAGGA	0.592													4	60					0	0	0	0	A	37898681	G	A	37898681	3	1	439	1	0	0	0	0	1	0	0	0	2669	942	33	2	1423	2	CARD10	22	37898681	Missense_Mutation	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	6398351	37898681	13405885	106	86380											
OTUD5	55593	broad.mit.edu	37	chrX	48792042	48792042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctctgccatggcctgcatCtcaatgtggttgccatggca	7	12	10	12	0	2	0	1	0	2	0	4	0	2	0	3	3	3	3	3	3	1	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:48792042C>T	ENST00000156084.4	-	4	912	c.852G>A	c.(850-852)gaG>gaA	p.E284E	OTUD5_ENST00000376488.3_Silent_p.E284E|OTUD5_ENST00000396743.3_Silent_p.E284E|OTUD5_ENST00000428668.2_Silent_p.E67E|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	284	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TGGCCTGCATCTCAATGTGGT	0.488													81	178					0	0	0	0	T	48792042	C	T	48792042	2	4	439	1	0	0	0	0	0	0	0	1	11386	912	32	2		2	OTUD5	23	48792042	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08		48792042	106478518	107	86381											
SHROOM4	57477	broad.mit.edu	37	chrX	50350983	50350983	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaaggcacggctgcgCagtgggtggggcatggaggc	7	6	20	8	2	1	1	0	1	1	1	1	3	1	2	0	7	1	4	0	7	1	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:50350983C>A	ENST00000376020.2	-	6	3184	c.3159G>T	c.(3157-3159)ctG>ctT	p.L1053L	SHROOM4_ENST00000289292.7_Silent_p.L1053L|SHROOM4_ENST00000460112.3_Silent_p.L937L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1053					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACGGCTGCGCAGTGGGTGGG	0.552													30	49					2.12542e-12	2.18934e-12	1	0	A	50350983	C	A	50350983	2	1	439	1	0	0	0	0	0	0	0	1	14384	697	25	4		4	SHROOM4	23	50350983	Silent	SNP	C	TCGA-IQ-A61L-01A-11D-A30E-08	1558941	50350983	104919577	108	86382											
AR	367	broad.mit.edu	37	chrX	66765123	66765123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggcacccagaggccgcGagcgcagcacctcccggcgc	7	1	13	20	5	0	1	0	0	0	1	1	2	1	1	5	3	2	3	5	3	0	0			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:66765123G>A	ENST00000374690.3	+	1	659	c.135G>A	c.(133-135)gcG>gcA	p.A45A	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.A45A|AR_ENST00000504326.1_Silent_p.A45A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	45	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGAGGCCGCGAGCGCAGCAC	0.672									Androgen Insensitivity Syndrome				4	91					0	0	0	0	A	66765123	G	A	66765123	2	1	439	1	0	0	0	0	0	0	0	1	838	1045	37	1		1	AR	23	66765123	Silent	SNP	G	TCGA-IQ-A61L-01A-11D-A30E-08	16414140	66765123	88505437	109	86383											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													8	76	---	---	---	---					-	72433666	TCC	-	72433664	7	5	439	1	0	1	0	1	0	0	0	0	10227	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-IQ-A61L-01A-11D-A30E-08	5668541	72433664	82836896	110	86384											
GPRASP2	114928	broad.mit.edu	37	chrX	101969906	101969906	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtccctctggtggtcAgacccaaggttaggacccag	9	9	12	11	0	2	2	1	1	1	1	3	3	3	3	3	4	0	1	3	4	2	1			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:101969906A>C	ENST00000543253.1	+	5	1028	c.109A>C	c.(109-111)Aga>Cga	p.R37R	GPRASP2_ENST00000535209.1_Silent_p.R37R|GPRASP2_ENST00000332262.5_Silent_p.R37R	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTGGTGGTCAGACCCAAGGT	0.572													33	215					0	0	0	0	C	101969906	A	C	101969906	2	2	439	1	0	0	0	0	0	0	0	1	6773	180	7	5		5	GPRASP2	23	101969906	Silent	SNP	A	TCGA-IQ-A61L-01A-11D-A30E-08	29536242	101969906	53300654	111	86385											
HIVEP3	59269	broad.mit.edu	37	chr1	42046798	42046798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgggtatggcatggggAggaaggaagggggctgcctg	8	6	22	5	1	0	0	0	0	0	0	1	3	0	3	1	9	1	3	1	9	3	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:42046798A>G	ENST00000372584.1	-	3	4685	c.3671T>C	c.(3670-3672)cTc>cCc	p.L1224P	HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1224P|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1224P|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1224P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1224					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGCATGGGGAGGAAGGAAGG	0.582													7	93					0	0	0	0	G	42046798	A	G	42046798	3	3	440	1	0	0	0	0	1	0	0	0	7238	304	11	5	3573	5	HIVEP3	1	42046798	Missense_Mutation	SNP	A	TCGA-IQ-A61O-01A-11D-A30E-08		42046798	207203823	1	86386											
NES	10763	broad.mit.edu	37	chr1	156642568	156642568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaactggagtggtcagggCtgaggggtggtgccaaggag	9	7	19	6	0	1	1	1	1	0	0	1	3	1	3	1	7	2	1	1	7	3	1	rs140134053	by1000genomes	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:156642568C>A	ENST00000368223.3	-	4	1544	c.1412G>T	c.(1411-1413)aGc>aTc	p.S471I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	471	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGTCAGGGCTGAGGGGTGG	0.622													15	169					2.61681e-11	3.03399e-11	1	0	A	156642568	C	A	156642568	3	1	440	1	0	0	0	0	1	0	0	0	10407	797	28	4	3457	4	NES	1	156642568	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	114595770	156642568	92608053	2	86387											
CEP350	9857	broad.mit.edu	37	chr1	180061878	180061878	+	Missense_Mutation	SNP	G	G	A																															tccagttctcagatcatcaaGgaaaatcagagaagaatctg																										TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:180061878G>A	ENST00000367607.3	+	34	7056	c.6638G>A	c.(6637-6639)aGg>aAg	p.R2213K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2213						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGATCATCAAGGAAAATCAGA	0.368													4	16					0	0	0	0	A	180061878	G	A	180061878	3	1	440	1	0	0	0	0	1	0	0	0	3283	1000	35	4	6768	4	CEP350	1	180061878	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	23419310	180061878	69188743	3	86388	1079	2									
CEP350	9857	broad.mit.edu	37	chr1	180061879	180061879	+	Silent	SNP	G	G	A																															ccagttctcagatcatcaagGaaaatcagagaagaatctgg																										TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:180061879G>A	ENST00000367607.3	+	34	7057	c.6639G>A	c.(6637-6639)agG>agA	p.R2213R	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2213						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATCATCAAGGAAAATCAGAG	0.368													4	16					0	0	0	0	A	180061879	G	A	180061879	2	1	440	1	0	0	0	0	0	0	0	1	3283	1165	41	2		2	CEP350	1	180061879	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	1	180061879	69188742	4	86389	1079	2									
NFASC	23114	broad.mit.edu	37	chr1	204948630	204948630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgtgtcattgccatcaacGaggttgggagcagccacccc	8	8	11	14	2	2	0	2	0	0	0	3	2	3	1	5	2	4	2	5	2	1	2			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:204948630G>A	ENST00000367172.4	+	19	2447	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	NFASC_ENST00000338515.6_Missense_Mutation_p.E707K|NFASC_ENST00000367169.4_Missense_Mutation_p.E707K|NFASC_ENST00000339876.6_Missense_Mutation_p.E707K|NFASC_ENST00000513543.1_Missense_Mutation_p.E703K|NFASC_ENST00000367171.4_Missense_Mutation_p.E692K|NFASC_ENST00000404907.1_Missense_Mutation_p.E703K|NFASC_ENST00000367170.4_Missense_Mutation_p.E707K|NFASC_ENST00000539706.1_Missense_Mutation_p.E703K|NFASC_ENST00000338586.6_Missense_Mutation_p.E707K|NFASC_ENST00000401399.1_Missense_Mutation_p.E707K|NFASC_ENST00000360049.4_Missense_Mutation_p.E703K|NFASC_ENST00000404076.1_Missense_Mutation_p.E686K			O94856	NFASC_HUMAN	neurofascin	707	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCATCAACGAGGTTGGGAG	0.622													32	234					0	0	0	0	A	204948630	G	A	204948630	3	1	440	1	0	0	0	0	1	0	0	0	10429	1059	37	1	2269	1	NFASC	1	204948630	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	24886751	204948630	44301991	5	86390											
USH2A	7399	broad.mit.edu	37	chr1	216243458	216243458	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacctgtgaggttgcttgTattgacaaattcagcactgg	9	15	10	7	0	1	2	1	2	0	0	1	2	1	2	1	2	3	4	1	2	3	7			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:216243458T>G	ENST00000366943.2	-	30	6420	c.6034A>C	c.(6034-6036)Aca>Cca	p.T2012P	USH2A_ENST00000307340.3_Missense_Mutation_p.T2012P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2012	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGTTGCTTGTATTGACAAAT	0.398										HNSCC(13;0.011)			16	47					0	0	0	0	G	216243458	T	G	216243458	3	3	440	1	0	0	0	0	1	0	0	0	17132	1638	57	5	9746	5	USH2A	1	216243458	Missense_Mutation	SNP	T	TCGA-IQ-A61O-01A-11D-A30E-08	11294828	216243458	33007163	6	86391											
SCN7A	6332	broad.mit.edu	37	chr2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggtccttttccaagaCgcagcatgtgaatgatccgt	8	13	9	11	2	0	3	0	2	0	1	3	3	3	3	4	1	1	2	4	1	2	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468													37	77					0	0	0	0	T	167263066	C	T	167263066	3	4	440	1	0	0	0	0	1	0	0	0	14010	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08		167263066	75936307	7	86392											
COL4A4	1286	broad.mit.edu	37	chr2	227924263	227924263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattcactcctggtgagccGggagggcctgggggcccaac	6	6	15	14	1	1	1	1	1	0	0	2	2	2	2	5	5	2	0	5	5	1	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:227924263G>A	ENST00000396625.3	-	28	2448	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	COL4A4_ENST00000329662.7_Silent_p.P747P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	747	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P747P(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGTGAGCCGGGAGGGCCTG	0.552													42	96					0	0	0	0	A	227924263	G	A	227924263	2	1	440	1	0	0	0	0	0	0	0	1	3723	1103	39	1		1	COL4A4	2	227924263	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	60661197	227924263	15275110	8	86393											
SP140	11262	broad.mit.edu	37	chr2	231162144	231162144	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcaacagagaatactGaagtctcaaaacaatagctc	16	12	5	8	0	2	2	2	1	1	1	4	3	2	2	0	0	4	1	0	0	8	5			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:231162144G>T	ENST00000392045.3	+	22	2139	c.2025G>T	c.(2023-2025)ctG>ctT	p.L675L	SP140_ENST00000343805.6_Silent_p.L615L|SP140_ENST00000350136.5_Silent_p.L544L|SP140_ENST00000486687.2_Silent_p.L599L|SP140_ENST00000417495.3_Silent_p.L561L|SP140_ENST00000420434.3_Silent_p.L648L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	675					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGAATACTGAAGTCTCAAA	0.338													17	28					5.01169e-05	5.34581e-05	1	0	T	231162144	G	T	231162144	2	4	440	1	0	0	0	0	0	0	0	1	15050	1277	45	2		2	SP140	2	231162144	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	3237881	231162144	12037229	9	86394											
CPOX	1371	broad.mit.edu	37	chr3	98243869	98243871	+	RNA	DEL	TTG	TTG	-																															gtctttttttttttttttttTtgtattctaatacagttcaa																										TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:98243869_98243871delTTG	ENST00000502999.1	+	0	264																											TTTTTTTTTTTTGTATTCTAATA	0.32													2	4	---	---	---	---					-	98243871	TTG	-	98243869	6	5	440	0	1	1	0	1	0	0	0	0	3851	1856	64	0		0	CPOX	3	98243869	RNA	DEL	TTG	TCGA-IQ-A61O-01A-11D-A30E-08		98243869	99778561	10	86395											
EIF2A	83939	broad.mit.edu	37	chr3	150299510	150299510	+	Frame_Shift_Del	DEL	A	A	-																															ctggggaccctgagatagacAaaaaaatcaagaacctaaag																										TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:150299510delA	ENST00000460851.1	+	12	1712	c.1603delA	c.(1603-1605)aafs	p.K536fs	SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Frame_Shift_Del_p.K511fs|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Frame_Shift_Del_p.K475fs|EIF2A_ENST00000383043.3_Frame_Shift_Del_p.K322fs|EIF2A_ENST00000273435.5_Frame_Shift_Del_p.K531fs			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	536					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGAGATAGACAAAAAAATCAA	0.403													2	4	---	---	---	---					-	150299510	A	-	150299510	7	5	440	1	0	1	0	1	0	0	0	0	5031	131	5	0	1649	0	EIF2A	3	150299510	Frame_Shift_Del	DEL	A	TCGA-IQ-A61O-01A-11D-A30E-08	52055641	150299510	47722920	11	86396											
AADAC	13	broad.mit.edu	37	chr3	151535308	151535308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggtatatgtgccaaagaGaaagtctgaagcactaagaa	16	8	11	6	1	1	3	0	1	1	2	2	4	1	3	1	1	2	2	1	1	7	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:151535308G>A	ENST00000232892.6	+	2	419	c.293G>A	c.(292-294)aGa>aAa	p.R98K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.R98K	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	98					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGCCAAAGAGAAAGTCTGAA	0.448													40	47					0	0	0	0	A	151535308	G	A	151535308	3	1	440	1	0	0	0	0	1	0	0	0	10	942	33	2	299	2	AADAC	3	151535308	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	1235798	151535308	46487122	12	86397											
SLC2A9	56606	broad.mit.edu	37	chr4	10027568	10027568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactttcttcatcttctcctCggtcctttttactgagcttc	4	19	4	14	1	4	1	1	1	3	0	8	1	5	1	2	1	2	1	2	1	1	7			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:10027568C>T	ENST00000506583.1	-	3	240	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R8Q			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATCTTCTCCTCGGTCCTTTTT	0.388													4	56					0	0	0	0	T	10027568	C	T	10027568	3	4	440	1	0	0	0	0	1	0	0	0	14640	884	31	1	1714	1	SLC2A9	4	10027568	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08		10027568	181126708	13	86398											
CFI	3426	broad.mit.edu	37	chr4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-																															ctctggttttccacagttttCcccccaactcacaacacccc																								rs7437875	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)aafs	p.E548fs	CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs|CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463													7	393	---	---	---	---					-	110662159	C	-	110662159	7	5	440	1	0	1	0	1	0	0	0	0	3318	864	30	0	113	0	CFI	4	110662159	Frame_Shift_Del	DEL	C	TCGA-IQ-A61O-01A-11D-A30E-08	100634591	110662159	80492117	14	86399											
PCDH10	57575	broad.mit.edu	37	chr4	134073184	134073184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgaaatgaacctctttcGcatggactggcgcaccgggg	10	7	12	12	4	1	1	0	1	1	0	2	3	1	2	2	4	2	2	2	4	3	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:134073184G>A	ENST00000264360.4	+	1	2715	c.1889G>A	c.(1888-1890)cGc>cAc	p.R630H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	630	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACCTCTTTCGCATGGACTGG	0.672													6	92					0	0	0	0	A	134073184	G	A	134073184	3	1	440	1	0	0	0	0	1	0	0	0	11578	1087	38	1	1891	1	PCDH10	4	134073184	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	23411025	134073184	57081092	15	86400											
GUCY1B3	2983	broad.mit.edu	37	chr4	156698722	156698722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgggaagatgtttttCgtcttttgccaagaatctgg	8	17	11	5	1	2	2	0	0	2	2	3	3	2	3	1	2	1	2	1	2	3	5			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:156698722C>A	ENST00000264424.8	+	4	307	c.225C>A	c.(223-225)ttC>ttA	p.F75L	GUCY1B3_ENST00000507146.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.F55L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.F75L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	75					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGATGTTTTTCGTCTTTTGCC	0.353													15	99					3.35478e-16	3.94679e-16	1	0	A	156698722	C	A	156698722	3	1	440	1	0	0	0	0	1	0	0	0	6945	883	31	3	239	3	GUCY1B3	4	156698722	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	22625538	156698722	34455554	16	86401											
DEPDC1B	55789	broad.mit.edu	37	chr5	59943361	59943361	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtgaagaaggaggaaatCtaaaacccaagaagaaattc	19	5	12	5	0	1	4	0	1	1	3	2	6	1	6	1	4	1	0	1	4	8	2			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:59943361C>T	ENST00000265036.5	-	3	382		c.e3-1		DEPDC1B_ENST00000545085.1_Splice_Site|DEPDC1B_ENST00000453022.2_Splice_Site	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AGGAGGAAATCTAAAACCCAA	0.378													17	53					0	0	0	0	T	59943361	C	T	59943361	5	4	440	1	0	0	0	0	0	0	1	0	4477	927	32	2	1311	2	DEPDC1B	5	59943361	Splice_Site	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08		59943361	120971899	17	86402											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723860	140723860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggcagcttggtcaccgCggagaggatagaccgggagg	10	4	18	9	4	1	2	1	0	0	2	1	5	1	4	2	6	2	2	2	6	2	2			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:140723860C>T	ENST00000253812.6	+	1	260	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCACCGCGGAGAGGATA	0.537													45	62					0	0	0	0	T	140723860	C	T	140723860	3	4	440	1	0	0	0	0	1	0	0	0	11626	768	27	1	262	1	PCDHGA3	5	140723860	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	80780499	140723860	40191400	18	86403											
DUSP1	1843	broad.mit.edu	37	chr5	172197266	172197266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatgggggtcgactgtttGctgcacagctccgggcagga	6	8	15	12	2	0	0	0	0	0	0	2	2	1	1	2	4	3	5	2	4	0	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:172197266G>T	ENST00000239223.3	-	2	653	c.411C>A	c.(409-411)agC>agA	p.S137R	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	137	Rhodanese.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TCGACTGTTTGCTGCACAGCT	0.567													4	41					0.00024832	0.000261389	1	0	T	172197266	G	T	172197266	3	4	440	1	0	0	0	0	1	0	0	0	4845	1310	46	4	704	4	DUSP1	5	172197266	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	31473406	172197266	8717994	19	86404											
PARP12	64761	broad.mit.edu	37	chr7	139762592	139762592	+	Frame_Shift_Del	DEL	C	C	-																															gctcgggcaactccagggcgCccccggccgcgcacagcacc																										TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr7:139762592delC	ENST00000263549.3	-	1	929	c.56delG	c.(55-57)gcfs	p.G19fs		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	19						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTCCAGGGCGCCCCCGGCCGC	0.781													2	4	---	---	---	---					-	139762592	C	-	139762592	7	5	440	1	0	1	0	1	0	0	0	0	11528	739	26	0	2097	0	PARP12	7	139762592	Frame_Shift_Del	DEL	C	TCGA-IQ-A61O-01A-11D-A30E-08		139762592	19376071	20	86405											
TAS2R40	259286	broad.mit.edu	37	chr7	142919270	142919270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagagtgcatcactggcatCcttgggagtggcttcatcac	9	11	11	10	0	3	1	3	0	0	1	4	2	4	2	1	3	1	3	1	3	1	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr7:142919270C>T	ENST00000595842.1	-	1	90	c.91G>A	c.(91-93)Gat>Aat	p.D31N	TAS2R40_ENST00000408947.3_Silent_p.I33I																							TCACTGGCATCCTTGGGAGTG	0.517													22	125					0	0	0	0	T	142919270	C	T	142919270	3	4	440	1	0	0	0	0	1	0	0	0	15669	845	30	2	101	2	TAS2R40	7	142919270	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	3156678	142919270	16219393	21	86406											
E2F5	1875	broad.mit.edu	37	chr8	86115438	86115438	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaacttgatcagcagaagTtgtggctacagcaaagcatc	14	8	11	8	0	1	3	1	1	0	2	2	4	1	3	0	1	5	5	0	1	4	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr8:86115438T>G	ENST00000418930.2	+	3	650	c.454T>G	c.(454-456)Ttg>Gtg	p.L152V	E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.L152V|E2F5_ENST00000256117.5_Missense_Mutation_p.L152V			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	152	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCAGCAGAAGTTGTGGCTACA	0.318													6	37					0	0	0	0	G	86115438	T	G	86115438	3	3	440	1	0	0	0	0	1	0	0	0	4906	1722	60	5	464	5	E2F5	8	86115438	Missense_Mutation	SNP	T	TCGA-IQ-A61O-01A-11D-A30E-08		86115438	60248584	22	86407											
VAV2	7410	broad.mit.edu	37	chr9	136671256	136671256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgccccccaccatcacGgacacgtcgatggccctcag	7	6	10	18	3	2	0	2	0	0	0	3	2	2	1	5	2	2	1	5	2	0	0			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:136671256G>A	ENST00000371851.1	-	8	1093	c.768C>T	c.(766-768)tcC>tcT	p.S256S	VAV2_ENST00000371850.3_Silent_p.S261S|VAV2_ENST00000406606.3_Silent_p.S256S			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	261	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCACCATCACGGACACGTCGA	0.632													12	19					0	0	0	0	A	136671256	G	A	136671256	2	1	440	1	0	0	0	0	0	0	0	1	17228	1103	39	1		1	VAV2	9	136671256	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08		136671256	4542175	23	86408											
MUC2	4583	broad.mit.edu	37	chr11	1093791	1093791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacctcttcccctctcacGgagtcaaccacccttctgag	7	10	5	19	1	4	1	2	1	3	0	7	2	6	2	6	1	1	0	6	1	1	2			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:1093791G>A	ENST00000441003.2	+	30	5637	c.5610G>A	c.(5608-5610)acG>acA	p.T1870T	MUC2_ENST00000333592.6_Silent_p.T158T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1884						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCTCTCACGGAGTCAACCA	0.622													6	397					0	0	0	0	A	1093791	G	A	1093791	2	1	440	1	0	0	0	0	0	0	0	1	10045	1103	39	1		1	MUC2	11	1093791	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08		1093791	133912725	24	86409											
UBQLN3	50613	broad.mit.edu	37	chr11	5529680	5529680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggtggtggttcctggCtttggctgagggcagatgca	5	12	17	7	0	0	3	0	2	0	1	1	3	1	3	1	6	1	5	1	6	0	2			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:5529680C>T	ENST00000311659.4	-	2	1256	c.1109G>A	c.(1108-1110)aGc>aAc	p.S370N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	370								p.S370I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTCCTGGCTTTGGCTGAG	0.542													32	156					0	0	0	0	T	5529680	C	T	5529680	3	4	440	1	0	0	0	0	1	0	0	0	16994	797	28	4	862	4	UBQLN3	11	5529680	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	4435889	5529680	129476836	25	86410											
DAK	26007	broad.mit.edu	37	chr11	61106814	61106814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggctgaaggcatcccGgtggagatggtggtgattgg	6	8	19	8	2	0	3	0	2	0	1	1	4	1	3	2	7	0	2	2	7	1	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:61106814G>A	ENST00000394900.3	+	5	622	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	131	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AAGGCATCCCGGTGGAGATGG	0.647													24	116					0	0	0	0	A	61106814	G	A	61106814	2	1	440	1	0	0	0	0	0	0	0	1	4261	1103	39	1		1	DAK	11	61106814	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	55577134	61106814	73899702	26	86411											
C11orf48	79081	broad.mit.edu	37	chr11	62435195	62435195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcttaaaggacttctaGggtcctgtgggctccaagcc	8	12	11	10	0	2	0	0	0	2	0	4	1	4	1	3	3	1	2	3	3	4	4			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:62435195G>A	ENST00000431002.2	-	2	2149	c.416C>T	c.(415-417)cCt>cTt	p.P139L	C11orf48_ENST00000532208.1_Missense_Mutation_p.P113L|C11orf48_ENST00000354588.3_Missense_Mutation_p.P113L|METTL12_ENST00000532971.1_3'UTR			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	139										endometrium(1)|lung(5)|urinary_tract(1)	7						AGGACTTCTAGGGTCCTGTGG	0.478													6	241					0	0	0	0	A	62435195	G	A	62435195	3	1	440	1	0	0	0	0	1	0	0	0	1655	1000	35	4	469	4	C11orf48	11	62435195	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	1328381	62435195	72571321	27	86412											
CCDC88B	283234	broad.mit.edu	37	chr11	64112385	64112385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccaggcctgggagcaagCccggctgcgggaggcagtgg	6	3	20	12	2	0	0	0	0	0	0	0	2	0	2	3	7	3	3	3	7	1	0			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:64112385C>T	ENST00000356786.5	+	14	2416	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	791					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGAGCAAGCCCGGCTGCGG	0.731													3	39					0	0	0	0	T	64112385	C	T	64112385	3	4	440	1	0	0	0	0	1	0	0	0	2891	739	26	4	2426	4	CCDC88B	11	64112385	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	1677190	64112385	70894131	28	86413											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088450	65088450	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgggacctgctgtcctcGgacatgatcagcccaccgct	6	9	10	16	3	1	1	1	1	0	0	4	3	2	3	4	2	2	2	4	2	0	1	rs141215100	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:65088450G>A	ENST00000544348.1	+	2	687	c.81G>A	c.(79-81)tcG>tcA	p.S27S	CDC42EP2_ENST00000279249.2_Silent_p.S27S|CDC42EP2_ENST00000533419.1_Silent_p.S27S			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	27					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TGCTGTCCTCGGACATGATCA	0.602													21	56					0	0	0	0	A	65088450	G	A	65088450	2	1	440	1	0	0	0	0	0	0	0	1	3105	1103	39	1		1	CDC42EP2	11	65088450	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	976065	65088450	69918066	29	86414											
CATSPER1	117144	broad.mit.edu	37	chr11	65793355	65793355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaccgtggtggggcaCgccagaggaatagtgggata	10	6	16	9	2	1	1	1	0	0	1	1	3	1	3	3	5	1	1	3	5	3	2			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:65793355C>T	ENST00000312106.5	-	1	633	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	166	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.V166M(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGTGGGGCACGCCAGAGGAA	0.582													30	61					0	0	0	0	T	65793355	C	T	65793355	3	4	440	1	0	0	0	0	1	0	0	0	2712	536	19	1	1894	1	CATSPER1	11	65793355	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	704905	65793355	69213161	30	86415											
MMP1	4312	broad.mit.edu	37	chr11	102663365	102663365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accggacttcatctctgtcgGcaaattcgtaagcagcttca	10	11	8	12	3	3	0	2	0	1	0	6	1	3	1	1	2	2	4	1	2	2	4			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:102663365G>A	ENST00000315274.6	-	7	1071	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	335	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A335D(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ATCTCTGTCGGCAAATTCGTA	0.393													10	1945					0	0	0	0	A	102663365	G	A	102663365	3	1	440	1	0	0	0	0	1	0	0	0	9717	1203	42	4	421	4	MMP1	11	102663365	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	36870010	102663365	32343151	31	86416											
SLC6A12	6539	broad.mit.edu	37	chr12	313743	313743	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacataccctggaagaggggGcagatcttcctccaggctgt	9	9	12	11	0	1	2	0	0	1	2	3	3	3	3	3	4	2	2	3	4	3	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:313743G>A	ENST00000428720.1	-	4	1079	c.336C>T	c.(334-336)tgC>tgT	p.C112C	SLC6A12_ENST00000424061.2_Silent_p.C112C|SLC6A12_ENST00000536824.1_Silent_p.C112C|SLC6A12_ENST00000397296.2_Silent_p.C112C|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000359674.4_Silent_p.C112C	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	112					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAAGAGGGGGCAGATCTTCC	0.602													17	46					0	0	0	0	A	313743	G	A	313743	2	1	440	1	0	0	0	0	0	0	0	1	14763	1195	42	4		4	SLC6A12	12	313743	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08		313743	133538152	32	86417											
WNT1	7471	broad.mit.edu	37	chr12	49373479	49373479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccactgctccagggccccaCctcttcggcaagatcgtcaa	8	7	8	18	2	2	1	1	0	1	1	5	1	3	1	5	2	1	2	5	2	2	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:49373479C>T	ENST00000293549.3	+	2	369	c.333C>T	c.(331-333)caC>caT	p.H111H		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	111					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAGGGCCCCACCTCTTCGGCA	0.682													20	46					0	0	0	0	T	49373479	C	T	49373479	2	4	440	1	0	0	0	0	0	0	0	1	17477	506	18	4		4	WNT1	12	49373479	Silent	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	49059736	49373479	84478416	33	86418											
ITGA7	3679	broad.mit.edu	37	chr12	56078994	56078994	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccttgaactgctgtcGgtcttcccgaggaatcttca	6	13	8	14	2	3	1	1	1	2	0	7	3	6	2	3	2	2	1	3	2	2	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:56078994G>A	ENST00000257879.6	-	25	3477	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*	ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.R995*|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.R1082*|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000555728.1_Nonsense_Mutation_p.R1132*|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.R1092*	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1132					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACTGCTGTCGGTCTTCCCGA	0.627													17	78					0	0	0	0	A	56078994	G	A	56078994	4	1	440	1	0	0	0	0	0	1	0	0	7934	1124	39	1	155	1	ITGA7	12	56078994	Nonsense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	6705515	56078994	77772901	34	86419											
KIF5A	3798	broad.mit.edu	37	chr12	57963187	57963187	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctgatgtttgggcagcGgtcagtggcagggtccccag	6	8	15	12	1	1	1	1	1	0	0	2	1	2	1	3	4	1	3	3	4	0	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:57963187G>A	ENST00000455537.2	+	10	1242	c.968_splice	c.e10+1	p.R323_splice	KIF5A_ENST00000286452.5_Splice_Site_p.R234_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	323	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTTGGGCAGCGGTCAGTGGCA	0.572													24	133					0	0	0	0	A	57963187	G	A	57963187	5	1	440	1	0	0	0	0	0	0	1	0	8356	1130	39	1	1006	1	KIF5A	12	57963187	Splice_Site	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	1884193	57963187	75888708	35	86420											
GCN1L1	10985	broad.mit.edu	37	chr12	120615320	120615320	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcagatccttaaattcTgagtgggacaggtatcggag	12	11	12	6	1	2	2	1	1	1	1	4	4	3	4	1	3	0	2	1	3	4	4			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:120615320T>C	ENST00000300648.6	-	9	780	c.768A>G	c.(766-768)tcA>tcG	p.S256S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	256					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTAAATTCTGAGTGGGACA	0.473													4	49					0	0	0	0	C	120615320	T	C	120615320	2	2	440	1	0	0	0	0	0	0	0	1	6348	1567	55	5		5	GCN1L1	12	120615320	Silent	SNP	T	TCGA-IQ-A61O-01A-11D-A30E-08	62652133	120615320	13236575	36	86421											
TMEM132D	121256	broad.mit.edu	37	chr12	129563220	129563220	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtcaccttctcgtccagCacagtgatggtcttttcagc	7	13	9	12	1	4	1	2	1	2	0	6	1	5	1	2	2	2	1	2	2	0	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:129563220C>A	ENST00000422113.2	-	8	2300	c.1974G>T	c.(1972-1974)gtG>gtT	p.V658V	TMEM132D_ENST00000389441.4_Silent_p.V196V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	658						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTCGTCCAGCACAGTGATGG	0.567													13	115					7.93312e-07	8.69383e-07	1	0	A	129563220	C	A	129563220	2	1	440	1	0	0	0	0	0	0	0	1	16141	697	25	4		4	TMEM132D	12	129563220	Silent	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	8947900	129563220	4288675	37	86422											
FZD10	11211	broad.mit.edu	37	chr12	130648600	130648600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaccatcctgatcctggtCatgcgcagggtggcggggga	8	7	16	10	2	1	2	1	1	0	1	3	3	3	3	3	5	1	1	3	5	1	0			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:130648600C>T	ENST00000539839.1	+	1	1597	c.1015C>T	c.(1015-1017)Cat>Tat	p.H339Y	FZD10_ENST00000229030.4_Silent_p.V371V	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGATCCTGGTCATGCGCAGGG	0.662													7	65					0	0	0	0	T	130648600	C	T	130648600	3	4	440	1	0	0	0	0	1	0	0	0	6177	813	29	2	1115	2	FZD10	12	130648600	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	1085380	130648600	3203295	38	86423											
GOLGA3	2802	broad.mit.edu	37	chr12	133378430	133378430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctggtaccactgccGgacactctgcagggacgaga	8	7	13	13	2	1	1	0	0	1	1	1	4	1	3	2	3	5	4	2	3	1	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:133378430G>A	ENST00000204726.3	-	8	2281	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	GOLGA3_ENST00000450791.2_Missense_Mutation_p.R575W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R575W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R575W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R575W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	575	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TACCACTGCCGGACACTCTGC	0.652													4	142					0	0	0	0	A	133378430	G	A	133378430	3	1	440	1	0	0	0	0	1	0	0	0	6605	1115	39	1	2979	1	GOLGA3	12	133378430	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	2729830	133378430	473465	39	86424											
AP1G2	8906	broad.mit.edu	37	chr14	24032660	24032660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagctcctgggccccccCaatcagctgggtcaggttgg	6	9	13	13	0	2	0	2	0	0	0	3	0	3	0	4	4	2	4	4	4	2	2	rs140628752	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr14:24032660C>T	ENST00000308724.5	-	13	2094	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	AP1G2_ENST00000397120.3_Missense_Mutation_p.G447R|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	447					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGGCCCCCCCAATCAGCTGG	0.602											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	0	0	T	24032660	C	T	24032660	3	4	440	1	0	0	0	0	1	0	0	0	734	594	21	4	1054	4	AP1G2	14	24032660	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08		24032660	83316880	40	86425											
C14orf39	317761	broad.mit.edu	37	chr14	60921858	60921858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtactgcatttctatttCtgttactgagaaataagaaa	14	14	7	6	0	2	2	0	1	2	2	2	3	2	2	0	1	3	3	0	1	6	6			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr14:60921858C>A	ENST00000321731.3	-	16	1523	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	455										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTCTATTTCTGTTACTGAG	0.308													9	45					5.4927e-09	6.103e-09	1	0	A	60921858	C	A	60921858	3	1	440	1	0	0	0	0	1	0	0	0	1784	913	32	2	411	2	C14orf39	14	60921858	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	36889198	60921858	46427682	41	86426											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84694059	84694059	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacagtcggcaggtgacGtgcaagcggacaaaagccaa	14	4	12	11	3	0	1	0	1	0	0	1	2	0	2	2	3	4	2	2	3	5	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr15:84694059G>T	ENST00000286744.5	+	27	4751	c.4527G>T	c.(4525-4527)acG>acT	p.T1509T	ADAMTSL3_ENST00000567476.1_Silent_p.T1509T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1509	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCAGGTGACGTGCAAGCGGA	0.507													15	35					0.000308642	0.000320667	1	0	T	84694059	G	T	84694059	2	4	440	1	0	0	0	0	0	0	0	1	276	1132	40	3		3	ADAMTSL3	15	84694059	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08		84694059	17837333	42	86427											
NAGPA	51172	broad.mit.edu	37	chr16	5078047	5078047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctcatcacagccgggacCccgccagaagtgcccggtgc	8	4	12	17	3	2	1	2	0	0	1	2	2	2	2	5	2	4	1	5	2	1	0			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:5078047C>T	ENST00000312251.3	-	6	1079	c.1060G>A	c.(1060-1062)Ggt>Agt	p.G354S	NAGPA_ENST00000381955.3_Missense_Mutation_p.G354S|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	354					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CAGCCGGGACCCCGCCAGAAG	0.687													5	37					0	0	0	0	T	5078047	C	T	5078047	3	4	440	1	0	0	0	0	1	0	0	0	10214	623	22	4	507	4	NAGPA	16	5078047	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08		5078047	85276706	43	86428											
MYLK3	91807	broad.mit.edu	37	chr16	46781938	46781938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctccaggtggcccatGtctcggcacatgctctgcaa	6	8	10	17	2	2	0	0	0	2	0	4	0	3	0	4	3	2	4	4	3	1	0			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:46781938G>T	ENST00000394809.4	-	1	283	c.168C>A	c.(166-168)gaC>gaA	p.D56E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	56					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGTGGCCCATGTCTCGGCACA	0.627													11	54					9.70103e-10	1.09307e-09	1	0	T	46781938	G	T	46781938	3	4	440	1	0	0	0	0	1	0	0	0	10128	1368	48	4	2343	4	MYLK3	16	46781938	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	41703891	46781938	43572815	44	86429											
ABCC12	94160	broad.mit.edu	37	chr16	48149453	48149453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagcaggtagagctgaCggtcggagtagacagcgcgg	9	5	17	10	5	0	3	0	1	0	2	2	4	1	4	1	4	3	4	1	4	2	2			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:48149453C>T	ENST00000311303.3	-	13	2207	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H	ABCC12_ENST00000416054.1_Missense_Mutation_p.V597I|ABCC12_ENST00000448542.1_Missense_Mutation_p.R621H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	621	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTAGAGCTGACGGTCGGAGTA	0.622													16	91					0	0	0	0	T	48149453	C	T	48149453	3	4	440	1	0	0	0	0	1	0	0	0	52	536	19	1	2285	1	ABCC12	16	48149453	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	1367515	48149453	42205300	45	86430											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			15	64					0	0	0	0	A	7578212	G	A	7578212	4	1	440	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08		7578212	73616998	46	86431											
FBXW10	10517	broad.mit.edu	37	chr17	18659367	18659367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttgttagaatgagtacAacctgtggactgcataccag	11	11	9	10	0	0	2	0	1	0	1	1	3	1	3	3	1	4	3	3	1	5	4			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:18659367A>G	ENST00000308799.4	+	5	1438	c.1219A>G	c.(1219-1221)Aac>Gac	p.N407D	FBXW10_ENST00000395667.1_Missense_Mutation_p.N378D|FBXW10_ENST00000395665.4_Missense_Mutation_p.N378D|FBXW10_ENST00000301938.4_Missense_Mutation_p.N378D			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	378								p.N378D(2)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAATGAGTACAACCTGTGGAC	0.478													4	33					0	0	0	0	G	18659367	A	G	18659367	3	3	440	1	0	0	0	0	1	0	0	0	5808	130	5	5	1154	5	FBXW10	17	18659367	Missense_Mutation	SNP	A	TCGA-IQ-A61O-01A-11D-A30E-08	11081155	18659367	62535843	47	86432											
NF1	4763	broad.mit.edu	37	chr17	29508730	29508730	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttctttatttataggcAttttggaactgggtagaaaa	11	16	11	3	0	1	1	0	0	1	1	1	2	1	2	0	4	1	3	0	4	7	9			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:29508730A>G	ENST00000358273.4	+	7	1040	c.657A>G	c.(655-657)gcA>gcG	p.A219A	NF1_ENST00000431387.4_Silent_p.A219A|NF1_ENST00000356175.3_Silent_p.A219A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	219					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.?(4)	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)		ATTTATAGGCATTTTGGAACT	0.299			"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)			14	46					0	0	0	0	G	29508730	A	G	29508730	2	3	440	1	0	0	0	0	0	0	0	1	10426	204	8	5		5	NF1	17	29508730	Silent	SNP	A	TCGA-IQ-A61O-01A-11D-A30E-08	10849363	29508730	51686480	48	86433											
MTMR4	9110	broad.mit.edu	37	chr17	56572427	56572427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaccctgcttcgatttgccGtaacctatgctggatcacat	8	13	8	12	2	1	0	1	0	0	0	2	2	1	1	3	1	5	4	3	1	3	5	rs148437803	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:56572427G>A	ENST00000323456.5	-	16	3200	c.3076C>T	c.(3076-3078)Cgg>Tgg	p.R1026W	MTMR4_ENST00000579925.1_Missense_Mutation_p.R969W	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1026						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGATTTGCCGTAACCTATGC	0.552													20	125					0	0	0	0	A	56572427	G	A	56572427	3	1	440	1	0	0	0	0	1	0	0	0	10016	1144	40	1	527	1	MTMR4	17	56572427	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	27063697	56572427	24622783	49	86434											
SOX9	6662	broad.mit.edu	37	chr17	70119078	70119078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcgccacactcctcctccgGcatgagcgaggtgcactccc	6	7	9	19	3	0	1	0	1	0	0	5	2	4	1	5	2	2	2	5	2	0	0			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:70119078G>A	ENST00000245479.2	+	2	1022	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	217					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCCTCCTCCGGCATGAGCGAG	0.697													5	153					0	0	0	0	A	70119078	G	A	70119078	3	1	440	1	0	0	0	0	1	0	0	0	15046	1203	42	4	656	4	SOX9	17	70119078	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	13546651	70119078	11076132	50	86435											
XAB2	56949	broad.mit.edu	37	chr19	7685213	7685213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgcgaggccatgaagttGacctgcgtgttgtacgtggc	7	11	14	9	3	1	2	0	2	1	0	1	3	1	2	2	2	3	3	2	2	2	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:7685213G>A	ENST00000358368.4	-	16	2251	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	XAB2_ENST00000534844.1_Silent_p.V735V	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	738					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCATGAAGTTGACCTGCGTGT	0.612								Direct reversal of damage;Nucleotide excision repair (NER)					15	60					0	0	0	0	A	7685213	G	A	7685213	2	1	440	1	0	0	0	0	0	0	0	1	17514	1277	45	2		2	XAB2	19	7685213	Silent	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08		7685213	51443770	51	86436											
KRI1	65095	broad.mit.edu	37	chr19	10668562	10668562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctggctggggtcgtagtCggcgtccatctgccaggacg	4	8	17	12	5	1	0	0	0	1	0	4	1	2	1	2	6	1	3	2	6	1	1	rs144833930	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:10668562C>T	ENST00000312962.6	-	15	1406	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	KRI1_ENST00000361821.5_Missense_Mutation_p.D459N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	463										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGTCGTAGTCGGCGTCCATC	0.657													10	33					0	0	0	0	T	10668562	C	T	10668562	3	4	440	1	0	0	0	0	1	0	0	0	8496	884	31	1	762	1	KRI1	19	10668562	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	2983349	10668562	48460421	52	86437											
SMARCA4	6597	broad.mit.edu	37	chr19	11144112	11144112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagaaggtgatccaggcCggcatgttcgaccagaagtc	11	6	13	11	2	0	3	0	1	0	2	3	5	1	3	4	3	0	2	4	3	2	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:11144112C>T	ENST00000358026.2	+	26	3977	c.3693C>T	c.(3691-3693)gcC>gcT	p.A1231A	SMARCA4_ENST00000450717.3_Silent_p.A1231A|SMARCA4_ENST00000429416.3_Silent_p.A1231A|SMARCA4_ENST00000413806.3_Silent_p.A1231A|SMARCA4_ENST00000344626.4_Silent_p.A1231A|SMARCA4_ENST00000444061.3_Silent_p.A1231A|SMARCA4_ENST00000590574.1_Silent_p.A1231A|SMARCA4_ENST00000589677.1_Silent_p.A1231A|SMARCA4_ENST00000541122.2_Silent_p.A1231A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1231	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGATCCAGGCCGGCATGTTCG	0.632			"F, N, Mis"		NSCLC								19	181					0	0	0	0	T	11144112	C	T	11144112	2	4	440	1	0	0	0	0	0	0	0	1	14858	639	23	1		1	SMARCA4	19	11144112	Silent	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	475550	11144112	47984871	53	86438											
CC2D1A	54862	broad.mit.edu	37	chr19	14031616	14031616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagctcctgcaggccGcactgcgagccaagcagaaa	13	3	12	13	2	0	2	0	0	0	2	1	3	1	2	3	1	6	5	3	1	3	0			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:14031616G>A	ENST00000318003.7	+	14	1763	c.1522G>A	c.(1522-1524)Gca>Aca	p.A508T	CC2D1A_ENST00000589606.1_Missense_Mutation_p.A508T	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	508					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCTGCAGGCCGCACTGCGAGC	0.647													10	66					0	0	0	0	A	14031616	G	A	14031616	3	1	440	1	0	0	0	0	1	0	0	0	2751	1087	38	1	1576	1	CC2D1A	19	14031616	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	2887504	14031616	45097367	54	86439											
FCGBP	8857	broad.mit.edu	37	chr19	40384116	40384116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggacggacagctggccGggcagggtgggccacagacc	8	2	19	12	2	0	1	0	0	0	1	0	3	0	3	3	7	1	2	3	7	0	0	rs144364268		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:40384116G>A	ENST00000221347.6	-	21	9501	c.9494C>T	c.(9493-9495)cCg>cTg	p.P3165L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3165	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGCTGGCCGGGCAGGGTGG	0.607													35	450					0	0	0	0	A	40384116	G	A	40384116	3	1	440	1	0	0	0	0	1	0	0	0	5823	1116	39	1	6787	1	FCGBP	19	40384116	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	26352500	40384116	18744867	55	86440											
GPR32	2854	broad.mit.edu	37	chr19	51274037	51274037	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcgtcggagtgctgggCaatgggctggtgctgtggat	5	12	18	6	2	0	0	0	0	0	0	2	2	0	2	0	5	2	4	0	5	1	1			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:51274037C>A	ENST00000270590.4	+	1	317	c.180C>A	c.(178-180)ggC>ggA	p.G60G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	60						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGTGCTGGGCAATGGGCTGG	0.587													12	53					9.31168e-06	1.00667e-05	1	0	A	51274037	C	A	51274037	2	1	440	1	0	0	0	0	0	0	0	1	6737	697	25	4		4	GPR32	19	51274037	Silent	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08	10889921	51274037	7854946	56	86441											
ZIK1	284307	broad.mit.edu	37	chr19	58101385	58101385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctctgctttcaggttgtgGccatggaacagaggatgaag	9	12	13	7	0	2	2	1	1	1	1	3	4	2	4	1	4	2	2	1	4	2	3			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:58101385G>A	ENST00000597850.1	+	4	421	c.206G>A	c.(205-207)gGc>gAc	p.G69D	ZIK1_ENST00000599456.1_Missense_Mutation_p.G14D|ZIK1_ENST00000307468.4_Missense_Mutation_p.A14T|ZIK1_ENST00000536878.2_Missense_Mutation_p.G56D	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCAGGTTGTGGCCATGGAACA	0.453													8	33					0	0	0	0	A	58101385	G	A	58101385	3	1	440	1	0	0	0	0	1	0	0	0	17778	1203	42	4	220	4	ZIK1	19	58101385	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08	6827348	58101385	1027598	57	86442											
HAO1	54363	broad.mit.edu	37	chr20	7886869	7886869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatttgatatcttcccagCtgatagatgggtctattgct	8	15	9	9	0	2	3	0	2	2	1	3	3	3	3	2	1	2	2	2	1	3	6	rs142998832	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr20:7886869C>G	ENST00000378789.3	-	4	704	c.653G>C	c.(652-654)aGc>aCc	p.S218T		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	218	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTCCCAGCTGATAGATGG	0.388													5	122					0	0	0	0	G	7886869	C	G	7886869	3	3	440	1	0	0	0	0	1	0	0	0	7001	797	28	4	479	4	HAO1	20	7886869	Missense_Mutation	SNP	C	TCGA-IQ-A61O-01A-11D-A30E-08		7886869	55138651	58	86443											
BAGE2	85319	broad.mit.edu	37	chr21	11038739	11038739	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctacctgtttggaccGaggtctaccaggagaaaatt	11	10	9	11	1	2	1	1	0	1	1	2	4	2	2	4	3	2	1	4	3	4	4			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr21:11038739G>T	ENST00000470054.1	-	0	1464									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)		TGTTTGGACCGAGGTCTACCA	0.388													12	163					0.00244969	0.00251251	1	0	T	11038739	G	T	11038739	1	4	440	0	1	0	0	0	0	0	0	0	1296	1073	37	3		3	BAGE2	21	11038739	RNA	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08		11038739	37091156	59	86444											
TRIOBP	11078	broad.mit.edu	37	chr22	38142400	38142400	+	Frame_Shift_Del	DEL	C	C	-																															ccacgttcctgcctcctgctCccgccgccctggggcgccgc																										TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr22:38142400delC	ENST00000403663.2	+	1	161	c.156delC	c.(154-156)ctfs	p.L52fs	TRIOBP_ENST00000406386.3_Intron|TRIOBP_ENST00000407319.2_Frame_Shift_Del_p.L52fs|RP1-37E16.12_ENST00000455236.1_RNA	NM_007032.5	NP_008963.3	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1765					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTGCTCCCGCCGCCCT	0.816													2	4	---	---	---	---					-	38142400	C	-	38142400	7	5	440	1	0	1	0	1	0	0	0	0	16648	842	30	0	5516	0	TRIOBP	22	38142400	Frame_Shift_Del	DEL	C	TCGA-IQ-A61O-01A-11D-A30E-08		38142400	13162166	60	86445											
APOBEC3G	60489	broad.mit.edu	37	chr22	39477512	39477513	+	Frame_Shift_Del	DEL	AA	AA	-																															gagcaagttcgtgtacagccAaagagagctatttgagcctt																										TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr22:39477512_39477513delAA	ENST00000407997.3	+	4	860_861	c.503_504delAA	c.(502-504)cfs	p.Q168fs	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Frame_Shift_Del_p.Q168fs	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GTGTACAGCCAAAGAGAGCTAT	0.48													46	150	---	---	---	---					-	39477513	AA	-	39477512	7	5	440	1	0	1	0	1	0	0	0	0	796	130	5	0	517	0	APOBEC3G	22	39477512	Frame_Shift_Del	DEL	AA	TCGA-IQ-A61O-01A-11D-A30E-08	1335112	39477512	11827054	61	86446											
FAM47B	170062	broad.mit.edu	37	chrX	34961676	34961676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaacctccagagactcGcgcatctcatctccgcgtgg	7	7	10	17	5	2	1	1	0	2	1	6	3	3	2	4	2	1	1	4	2	1	0			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chrX:34961676G>A	ENST00000329357.5	+	1	764	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAGAGACTCGCGCATCTCAT	0.642													25	101					0	0	0	0	A	34961676	G	A	34961676	3	1	440	1	0	0	0	0	1	0	0	0	5617	1087	38	1	730	1	FAM47B	23	34961676	Missense_Mutation	SNP	G	TCGA-IQ-A61O-01A-11D-A30E-08		34961676	120308884	62	86447											
VPS13D	55187	broad.mit.edu	37	chr1	12422808	12422808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggccgaggtcgatacAttgatacctgcatggtcatc	12	9	11	9	2	1	2	1	1	0	1	3	4	1	2	2	3	3	1	2	3	3	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:12422808A>G	ENST00000358136.3	+	51	10304	c.10174A>G	c.(10174-10176)Att>Gtt	p.I3392V	VPS13D_ENST00000356315.4_Missense_Mutation_p.I3367V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3391					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGTCGATACATTGATACCTG	0.413													35	185					0	0	0	0	G	12422808	A	G	12422808	3	3	441	1	0	0	0	0	1	0	0	0	17288	217	8	5	10372	5	VPS13D	1	12422808	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08		12422808	236827813	1	86448											
EIF4G3	8672	broad.mit.edu	37	chr1	21205835	21205836	+	Frame_Shift_Del	DEL	AT	AT	-																															ccgttactagacatcgacacAtgtttgcgtaagccacagag																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:21205835_21205836delAT	ENST00000602326.1	-	18	3035_3036	c.2452_2453delAT	c.(2452-2454)gfs	p.M818fs	EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.M416fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.M818fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.M812fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.M532fs|EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.M812fs|EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.M302fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	812	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATCGACACATGTTTGCGTAA	0.441													42	156	---	---	---	---					-	21205836	AT	-	21205835	7	5	441	1	0	1	0	1	0	0	0	0	5076	217	8	0	2394	0	EIF4G3	1	21205835	Frame_Shift_Del	DEL	AT	TCGA-IQ-A6SG-01A-12D-A34J-08	8783027	21205835	228044786	2	86449											
GBP7	388646	broad.mit.edu	37	chr1	89630514	89630514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagatgcctttggtttcaGacttcactgtgcagcccaga	8	12	9	12	0	2	3	2	0	0	3	3	3	3	3	3	1	3	2	3	1	0	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:89630514G>C	ENST00000294671.2	-	3	356	c.218C>G	c.(217-219)tCt>tGt	p.S73C		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	73						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTTGGTTTCAGACTTCACTGT	0.522													15	80					0	0	0	0	C	89630514	G	C	89630514	3	2	441	1	0	0	0	0	1	0	0	0	6328	942	33	2	1734	2	GBP7	1	89630514	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	68424679	89630514	159620107	3	86450											
AGL	178	broad.mit.edu	37	chr1	100353650	100353650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactggtcagcccttaaatAtgcaggtcttcaaggtaagc	13	10	9	9	0	3	0	2	0	1	0	3	0	3	0	1	3	4	2	1	3	6	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:100353650A>G	ENST00000294724.4	+	21	3276	c.2798A>G	c.(2797-2799)tAt>tGt	p.Y933C	AGL_ENST00000370165.3_Missense_Mutation_p.Y933C|AGL_ENST00000361302.3_Missense_Mutation_p.Y917C|AGL_ENST00000370161.2_Missense_Mutation_p.Y917C|AGL_ENST00000361522.4_Missense_Mutation_p.Y916C|AGL_ENST00000361915.3_Missense_Mutation_p.Y933C|AGL_ENST00000370163.3_Missense_Mutation_p.Y933C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	933					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCCCTTAAATATGCAGGTCTT	0.418													18	41					0	0	0	0	G	100353650	A	G	100353650	3	3	441	1	0	0	0	0	1	0	0	0	384	449	16	5	2945	5	AGL	1	100353650	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	10723136	100353650	148896971	4	86451											
SLC6A17	388662	broad.mit.edu	37	chr1	110716721	110716721	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaatgggagcgtggcaGgcaagtatggggcccagctg	9	6	18	8	1	1	0	1	0	0	0	1	2	1	2	1	6	2	4	1	6	3	1			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:110716721G>A	ENST00000331565.4	+	4	1056	c.571_splice	c.e4+1	p.V191_splice		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	191					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GAGCGTGGCAGGCAAGTATGG	0.547													16	43					0	0	0	0	A	110716721	G	A	110716721	5	1	441	1	0	0	0	0	0	0	1	0	14768	1014	35	4	581	4	SLC6A17	1	110716721	Splice_Site	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	10363071	110716721	138533900	5	86452											
ADORA3	140	broad.mit.edu	37	chr1	112031544	112031544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaaatagcctcggcacCagtatttggggtgattcttg	9	11	12	9	2	1	1	0	1	1	0	2	2	1	2	2	4	1	2	2	4	3	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:112031544C>A	ENST00000369716.4	-	3	693	c.560G>T	c.(559-561)tGg>tTg	p.W187L	ADORA3_ENST00000369717.4_Missense_Mutation_p.W106L	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GCCTCGGCACCAGTATTTGGG	0.517													14	77					9.31168e-06	9.96641e-06	1	0	A	112031544	C	A	112031544	3	1	441	1	0	0	0	0	1	0	0	0	329	595	21	4	499	4	ADORA3	1	112031544	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	1314823	112031544	137219077	6	86453											
NOTCH2	4853	broad.mit.edu	37	chr1	120491110	120491110	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacattcacacatgtagctGccctgggtgttatggcagag	9	10	13	9	0	1	1	1	0	0	1	1	2	1	2	1	3	2	4	1	3	2	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:120491110G>A	ENST00000256646.2	-	17	2898	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	893	EGF-like 23; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATGTAGCTGCCCTGGGTGT	0.517			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	61					0	0	0	0	A	120491110	G	A	120491110	2	1	441	1	0	0	0	0	0	0	0	1	10618	1306	46	4		4	NOTCH2	1	120491110	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	8459566	120491110	128759511	7	86454											
GABPB2	126626	broad.mit.edu	37	chr1	151090449	151090449	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaggcaatgaaagagAgctactacagcaacaactcc	18	4	9	10	0	0	2	0	1	0	1	1	4	1	3	1	2	6	3	1	2	7	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:151090449A>T	ENST00000368918.3	+	9	1395	c.1064A>T	c.(1063-1065)gAg>gTg	p.E355V	GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.E317V|GABPB2_ENST00000368917.1_Missense_Mutation_p.E317V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	355					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AATGAAAGAGAGCTACTACAG	0.468													20	75					0	0	0	0	T	151090449	A	T	151090449	3	4	441	1	0	0	0	0	1	0	0	0	6207	304	11	5	1094	5	GABPB2	1	151090449	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	30599339	151090449	98160172	8	86455											
ETV3	2117	broad.mit.edu	37	chr1	157105334	157105334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccccagaggcgggccacCtcatctggatccttgatgac	7	7	12	15	2	2	3	1	2	1	1	3	4	3	4	5	4	0	0	5	4	0	1			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:157105334C>T	ENST00000368192.4	-	3	277	c.213G>A	c.(211-213)gaG>gaA	p.E71E	ETV3_ENST00000326786.4_Silent_p.E71E|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	71							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GGCGGGCCACCTCATCTGGAT	0.547													13	40					0	0	0	0	T	157105334	C	T	157105334	2	4	441	1	0	0	0	0	0	0	0	1	5317	680	24	4		4	ETV3	1	157105334	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	6014885	157105334	92145287	9	86456											
NOS1AP	9722	broad.mit.edu	37	chr1	162335326	162335326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggtcaagcaggtgcaaGagctggaactgaagctgtca	11	8	14	8	0	2	2	2	1	0	1	2	3	2	3	0	3	6	5	0	3	4	0			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:162335326G>A	ENST00000493151.1	+	1	2554	c.187G>A	c.(187-189)Gag>Aag	p.E63K	NOS1AP_ENST00000530878.1_Missense_Mutation_p.E353K|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E358K|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E44K	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	358	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCAGGTGCAAGAGCTGGAACT	0.592													25	38					0	0	0	0	A	162335326	G	A	162335326	3	1	441	1	0	0	0	0	1	0	0	0	10612	943	33	2	1160	2	NOS1AP	1	162335326	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	5229992	162335326	86915295	10	86457											
PAPPA2	60676	broad.mit.edu	37	chr1	176525772	176525772	+	Missense_Mutation	SNP	G	G	A																															cactgaaggaaatgctgtgaGccttgttcccccagacctga																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:176525772G>A	ENST00000367662.3	+	2	1478	c.314G>A	c.(313-315)aGc>aAc	p.S105N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S105N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	105					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AATGCTGTGAGCCTTGTTCCC	0.567													23	175					0	0	0	0	A	176525772	G	A	176525772	3	1	441	1	0	0	0	0	1	0	0	0	11504	971	34	4	316	4	PAPPA2	1	176525772	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	14190446	176525772	72724849	11	86458	1080	2									
PAPPA2	60676	broad.mit.edu	37	chr1	176525773	176525773	+	Silent	SNP	C	C	T																															actgaaggaaatgctgtgagCcttgttcccccagacctgac																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:176525773C>T	ENST00000367662.3	+	2	1479	c.315C>T	c.(313-315)agC>agT	p.S105S	PAPPA2_ENST00000367661.3_Silent_p.S105S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	105					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATGCTGTGAGCCTTGTTCCCC	0.567													23	176					0	0	0	0	T	176525773	C	T	176525773	2	4	441	1	0	0	0	0	0	0	0	1	11504	738	26	4		4	PAPPA2	1	176525773	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	1	176525773	72724848	12	86459	1080	2									
ASPM	259266	broad.mit.edu	37	chr1	197094227	197094227	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaagaacttgaagaacaaTgtcaacattgtgcatctttt	14	15	6	6	0	2	3	1	1	1	2	2	3	2	3	0	0	4	1	0	0	6	6			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:197094227T>C	ENST00000367409.4	-	11	3287	c.3031A>G	c.(3031-3033)Att>Gtt	p.I1011V	ASPM_ENST00000367408.1_Missense_Mutation_p.I261V|ASPM_ENST00000294732.7_Missense_Mutation_p.I1011V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1011	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAGAACAATGTCAACATTG	0.393													26	71					0	0	0	0	C	197094227	T	C	197094227	3	2	441	1	0	0	0	0	1	0	0	0	1060	1464	51	5	7474	5	ASPM	1	197094227	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	20568454	197094227	52156394	13	86460											
OBSCN	84033	broad.mit.edu	37	chr1	228509168	228509168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccctcaatggacaaggcaGctgtgaagatccaggctgcc	11	7	11	12	0	1	2	1	1	0	1	3	3	3	3	3	3	2	3	3	3	3	0			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:228509168G>A	ENST00000570156.2	+	66	17571	c.17497G>A	c.(17497-17499)Gct>Act	p.A5833T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4876T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4876T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1995T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2510T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4876	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACAAGGCAGCTGTGAAGAT	0.592													8	11					0	0	0	0	A	228509168	G	A	228509168	3	1	441	1	0	0	0	0	1	0	0	0	10883	971	34	4	14840	4	OBSCN	1	228509168	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	31414941	228509168	20741453	14	86461											
OBSCN	84033	broad.mit.edu	37	chr1	228558449	228558449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttcctcctggcccgaagtCgctggcaggtgagccgtgac	6	8	14	13	3	0	2	0	2	0	0	3	3	2	2	4	3	1	3	4	3	1	1			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:228558449C>T	ENST00000570156.2	+	104	23181	c.23107C>T	c.(23107-23109)Cgc>Tgc	p.R7703C	OBSCN_ENST00000422127.1_Missense_Mutation_p.R6746C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R4380C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6746	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCGAAGTCGCTGGCAGGT	0.637													13	113					0	0	0	0	T	228558449	C	T	228558449	3	4	441	1	0	0	0	0	1	0	0	0	10883	884	31	1	21812	1	OBSCN	1	228558449	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	49281	228558449	20692172	15	86462											
GGPS1	9453	broad.mit.edu	37	chr1	235505557	235505557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcttttggaactccatcagGgacaaggcctagatatttac	12	11	9	9	0	1	1	1	0	0	1	2	3	2	3	2	3	3	1	2	3	5	6			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:235505557G>A	ENST00000282841.5	+	4	605	c.373G>A	c.(373-375)Gga>Aga	p.G125R	GGPS1_ENST00000391855.2_Missense_Mutation_p.G71R|GGPS1_ENST00000488594.1_Missense_Mutation_p.G125R|GGPS1_ENST00000358966.2_Missense_Mutation_p.G125R|GGPS1_ENST00000476121.1_Missense_Mutation_p.G125R			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	125					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			ACTCCATCAGGGACAAGGCCT	0.438													21	55					0	0	0	0	A	235505557	G	A	235505557	3	1	441	1	0	0	0	0	1	0	0	0	6411	1233	43	4	383	4	GGPS1	1	235505557	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	6947108	235505557	13745064	16	86463											
AHCTF1	25909	broad.mit.edu	37	chr1	247027358	247027358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagatttcatggagctttgCtgaataaactccgaacactg	12	11	10	8	1	1	2	1	1	0	1	2	5	2	3	1	2	4	2	1	2	4	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:247027358C>T	ENST00000366508.1	-	27	3649	c.3513G>A	c.(3511-3513)caG>caA	p.Q1171Q	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.Q1145Q|AHCTF1_ENST00000391829.2_Silent_p.Q1136Q			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1136	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAGCTTTGCTGAATAAACT	0.453													16	64					0	0	0	0	T	247027358	C	T	247027358	2	4	441	1	0	0	0	0	0	0	0	1	408	796	28	4		4	AHCTF1	1	247027358	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	11521801	247027358	2223263	17	86464											
MRPL33	9553	broad.mit.edu	37	chr2	28002301	28002301	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttctccctccatagtGaaacaaagagtcctcttcgt	9	16	5	11	1	2	2	0	1	2	1	6	2	4	2	3	0	1	0	3	0	3	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:28002301G>T	ENST00000296102.3	+	4	211	c.148_splice	c.e4-1	p.V50_splice	MRPL33_ENST00000379666.3_Splice_Site_p.E15_splice|AC110084.1_ENST00000601759.1_Intron|MRPL33_ENST00000483992.1_3'UTR	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	50					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCTCCATAGTGAAACAAAGAG	0.358													15	139					3.45872e-05	3.64496e-05	1	0	T	28002301	G	T	28002301	5	4	441	1	0	0	0	0	0	0	1	0	9866	1304	45	2	164	2	MRPL33	2	28002301	Splice_Site	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		28002301	215197072	18	86465											
NLRC4	58484	broad.mit.edu	37	chr2	32460556	32460556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaaatgtttcaacAggctgctcaggctgccttgc	7	11	8	15	0	2	0	2	0	0	0	4	0	4	0	4	2	4	4	4	2	2	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:32460556A>G	ENST00000404025.2	-	9	3184	c.2696T>C	c.(2695-2697)cTg>cCg	p.L899P	NLRC4_ENST00000360906.5_Missense_Mutation_p.L899P|NLRC4_ENST00000402280.1_Missense_Mutation_p.L899P|NLRC4_ENST00000342905.6_Missense_Mutation_p.L234P			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	899					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGTTTCAACAGGCTGCTCAG	0.498													139	67					0	0	0	0	G	32460556	A	G	32460556	3	3	441	1	0	0	0	0	1	0	0	0	10539	188	7	5	386	5	NLRC4	2	32460556	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	4458255	32460556	210738817	19	86466											
ALMS1	7840	broad.mit.edu	37	chr2	73830430	73830430	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgattcagaggtccaaaCggtaagaccaagaaaacaag	20	5	9	7	1	1	4	1	1	0	3	2	4	2	4	2	2	2	1	2	2	7	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:73830430C>T	ENST00000264448.6	+	21	12469	c.12359_splice	c.e21+1	p.R4120_splice	ALMS1_ENST00000409009.1_Splice_Site_p.R4078_splice|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4120					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				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						GAGGTCCAAACGGTAAGACCA	0.448													26	108					0	0	0	0	T	73830430	C	T	73830430	5	4	441	1	0	0	0	0	0	0	1	0	535	550	19	1	12440	1	ALMS1	2	73830430	Splice_Site	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	41369874	73830430	169368943	20	86467											
ANKRD36	375248	broad.mit.edu	37	chr2	97875549	97875549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattcaggctacaagtgacGagaaagattctgttttgtat	12	13	9	7	1	2	3	1	1	1	2	2	4	2	3	1	1	1	3	1	1	4	6			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:97875549G>A	ENST00000420699.2	+	56	3551	c.3307G>A	c.(3307-3309)Gag>Aag	p.E1103K	ANKRD36_ENST00000461153.2_Missense_Mutation_p.E1103K	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1103								p.E1103K(1)|p.E933K(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TACAAGTGACGAGAAAGATTC	0.323													5	55					0	0	0	0	A	97875549	G	A	97875549	3	1	441	1	0	0	0	0	1	0	0	0	664	1059	37	1	3529	1	ANKRD36	2	97875549	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	24045119	97875549	145323824	21	86468											
CHN1	1123	broad.mit.edu	37	chr2	175673737	175673737	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgataatgttgatatcttcaTacatgttcacagaaatatct	14	16	5	6	0	4	3	2	2	2	1	4	3	4	3	0	0	1	2	0	0	5	7			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:175673737T>G	ENST00000409900.3	-	11	1311	c.998A>C	c.(997-999)tAt>tCt	p.Y333S	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.Y208S|CHN1_ENST00000409597.1_Missense_Mutation_p.Y149S|CHN1_ENST00000409156.3_Missense_Mutation_p.Y307S	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	333	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GATATCTTCATACATGTTCAC	0.338			T	TAF15	extraskeletal myxoid chondrosarcoma								20	154					0	0	0	0	G	175673737	T	G	175673737	3	3	441	1	0	0	0	0	1	0	0	0	3391	1406	49	5	393	5	CHN1	2	175673737	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	77798188	175673737	67525636	22	86469											
TTN	7273	broad.mit.edu	37	chr2	179604205	179604205	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactgtagcaacctcctcAgtaccactttcagaggaaga	12	11	7	11	0	2	2	2	0	0	2	3	3	3	3	3	1	4	3	3	1	5	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:179604205A>G	ENST00000589042.1	-	48	13979	c.13755T>C	c.(13753-13755)acT>acC	p.T4585T	TTN_ENST00000591111.1_Silent_p.T4268T|TTN_ENST00000359218.5_Silent_p.T4347T|TTN_ENST00000342175.6_Silent_p.T4414T|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.T4222T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4268	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACCTCCTCAGTACCACTTT	0.453													16	122					0	0	0	0	G	179604205	A	G	179604205	2	3	441	1	0	0	0	0	0	0	0	1	16831	175	7	5		5	TTN	2	179604205	Silent	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	3930468	179604205	63595168	23	86470											
ASNSD1	54529	broad.mit.edu	37	chr2	190530956	190530956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttaaacagcggggacccaAtagtagtaaacaattgttaa	16	10	8	7	1	1	0	0	0	1	0	1	1	1	1	1	2	3	3	1	2	9	6			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:190530956A>G	ENST00000260952.4	+	4	511	c.98A>G	c.(97-99)aAt>aGt	p.N33S	ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607829.1_3'UTR	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	33	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CGGGGACCCAATAGTAGTAAA	0.383													138	140					0	0	0	0	G	190530956	A	G	190530956	3	3	441	1	0	0	0	0	1	0	0	0	1053	101	4	5	100	5	ASNSD1	2	190530956	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	10926751	190530956	52668417	24	86471											
ANKRD44	91526	broad.mit.edu	37	chr2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-																															tgcctctgtgatttggggtaTgtgtgtgtgtgtgtgttaga																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411													7	28	---	---	---	---					-	197943384	TG	-	197943383	7	5	441	1	0	1	0	1	0	0	0	0	671	1479	51	0		0	ANKRD44	2	197943383	Frame_Shift_Del	DEL	TG	TCGA-IQ-A6SG-01A-12D-A34J-08	7412427	197943383	45255990	25	86472											
SPATS2L	26010	broad.mit.edu	37	chr2	201305466	201305466	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagaagtggatagttcCgtgaagaagatcaaagctgc	16	7	13	5	1	1	4	1	1	0	3	2	6	2	6	1	2	2	2	1	2	7	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:201305466C>A	ENST00000409988.3	+	8	1270	c.747C>A	c.(745-747)tcC>tcA	p.S249S	SPATS2L_ENST00000409755.3_Silent_p.S279S|SPATS2L_ENST00000409718.1_Silent_p.S249S|SPATS2L_ENST00000409385.1_Silent_p.S189S|SPATS2L_ENST00000358677.4_Silent_p.S249S|SPATS2L_ENST00000409140.3_Silent_p.S249S|SPATS2L_ENST00000409151.1_Silent_p.S257S|SPATS2L_ENST00000451764.2_Silent_p.S249S|SPATS2L_ENST00000360760.5_Silent_p.S180S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	249						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGGATAGTTCCGTGAAGAAGA	0.408													17	24					6.49762e-13	7.54385e-13	1	0	A	201305466	C	A	201305466	2	1	441	1	0	0	0	0	0	0	0	1	15110	639	23	3		3	SPATS2L	2	201305466	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	3362083	201305466	41893907	26	86473											
HYAL1	3373	broad.mit.edu	37	chr3	50339652	50339652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactgcgggcatgtagaTgctgggatagagggcacggc	9	6	17	9	2	0	2	0	0	0	2	0	3	0	3	0	4	3	5	0	4	2	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr3:50339652T>C	ENST00000266031.4	-	1	1351	c.736A>G	c.(736-738)Atc>Gtc	p.I246V	HYAL1_ENST00000395144.2_Missense_Mutation_p.I246V|HYAL1_ENST00000320295.8_Missense_Mutation_p.I246V|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Missense_Mutation_p.I64V|HYAL1_ENST00000395143.2_Missense_Mutation_p.I246V			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	246						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GGCATGTAGATGCTGGGATAG	0.617													16	17					0	0	0	0	C	50339652	T	C	50339652	3	2	441	1	0	0	0	0	1	0	0	0	7516	1464	51	5	583	5	HYAL1	3	50339652	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08		50339652	147682778	27	86474											
ADPRH	141	broad.mit.edu	37	chr3	119306398	119306398	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctaccttccctgagtctttCggtgtgaaggagagggatca	8	11	12	10	1	2	3	1	2	1	1	4	5	3	4	3	3	1	0	3	3	2	3	rs148728137		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr3:119306398C>T	ENST00000478399.1	+	4	2152	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ADPRH_ENST00000357003.3_Silent_p.F249F|ADPRH_ENST00000478927.1_Silent_p.F249F|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.F249F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	249					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTGAGTCTTTCGGTGTGAAGG	0.507													5	119					0	0	0	0	T	119306398	C	T	119306398	2	4	441	1	0	0	0	0	0	0	0	1	331	883	31	1		1	ADPRH	3	119306398	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	68966746	119306398	78716032	28	86475											
PHOX2B	8929	broad.mit.edu	37	chr4	41750617	41750617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaggtaagaatattccAttttatacattgaaaaggtt	16	15	7	3	0	0	3	0	2	0	1	1	3	1	3	1	2	1	2	1	2	8	9			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:41750617A>C	ENST00000226382.2	-	1	370	c.11T>G	c.(10-12)aTg>aGg	p.M4R	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	4					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AGAATATTCCATTTTATACAT	0.478			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	35					0	0	0	0	C	41750617	A	C	41750617	3	2	441	1	0	0	0	0	1	0	0	0	11931	217	8	5	945	5	PHOX2B	4	41750617	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08		41750617	149403659	29	86476											
C4orf40	401137	broad.mit.edu	37	chr4	71024190	71024190	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgacacagggttaccttCgtatccctggattctaactt	9	13	7	12	1	1	1	0	1	1	0	3	2	2	2	2	2	2	2	2	2	3	6			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:71024190C>A	ENST00000344526.5	+	3	410	c.221C>A	c.(220-222)tCg>tAg	p.S74*	C4orf40_ENST00000502294.1_Nonsense_Mutation_p.S74*|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	74						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGTTACCTTCGTATCCCTGG	0.473													31	160					4.15321e-07	4.51579e-07	1	0	A	71024190	C	A	71024190	4	1	441	1	0	0	0	0	0	1	0	0	2290	893	31	3	231	3	C4orf40	4	71024190	Nonsense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	29273573	71024190	120130086	30	86477											
FAT4	79633	broad.mit.edu	37	chr4	126371057	126371057	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcgaggtaaaccttcCttaattagtgagacaacagt	14	11	8	8	1	1	2	1	1	0	2	3	4	2	2	2	1	2	1	2	1	5	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:126371057C>A	ENST00000394329.3	+	9	8899	c.8886C>A	c.(8884-8886)tcC>tcA	p.S2962S	FAT4_ENST00000335110.5_Silent_p.S1260S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2962	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTAAACCTTCCTTAATTAGTG	0.333													9	64					1.12685e-05	1.19673e-05	1	0	A	126371057	C	A	126371057	2	1	441	1	0	0	0	0	0	0	0	1	5737	668	24	4		4	FAT4	4	126371057	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	55346867	126371057	64783219	31	86478											
FSTL5	56884	broad.mit.edu	37	chr4	163032430	163032430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atattgactgtaccttatgtCgcaatctcattagaggctga	11	14	8	8	1	1	3	1	2	1	1	3	3	1	3	1	1	1	3	1	1	5	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:163032430C>T	ENST00000306100.5	-	2	555	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	FSTL5_ENST00000427802.2_Missense_Mutation_p.R40Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.R40Q|FSTL5_ENST00000536695.1_Missense_Mutation_p.R40Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	40						extracellular region	calcium ion binding	p.R40Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TACCTTATGTCGCAATCTCAT	0.393													38	124					0	0	0	0	T	163032430	C	T	163032430	3	4	441	1	0	0	0	0	1	0	0	0	6128	884	31	1	2484	1	FSTL5	4	163032430	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	36661373	163032430	28121846	32	86479											
TLL1	7092	broad.mit.edu	37	chr4	166935659	166935659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgcaattggtcagcgaaCccgtctaagcaaaggagata	13	8	10	10	2	2	1	1	0	1	1	3	3	3	1	2	2	4	2	2	2	5	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:166935659C>A	ENST00000061240.2	+	8	1636	c.989C>A	c.(988-990)aCc>aAc	p.T330N	TLL1_ENST00000507499.1_Missense_Mutation_p.T330N|TLL1_ENST00000513213.1_Missense_Mutation_p.T330N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	330	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGTCAGCGAACCCGTCTAAGC	0.463													5	213					0.000602214	0.000615697	1	0	A	166935659	C	A	166935659	3	1	441	1	0	0	0	0	1	0	0	0	16039	507	18	4	1019	4	TLL1	4	166935659	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	3903229	166935659	24218617	33	86480											
CDH9	1007	broad.mit.edu	37	chr5	26881432	26881432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatcatatggaggtgcaCttgggtctgcgtcgttttct	6	14	13	8	3	3	0	1	0	2	0	4	2	3	1	0	3	2	2	0	3	2	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:26881432C>G	ENST00000231021.4	-	12	2355	c.2183G>C	c.(2182-2184)aGt>aCt	p.S728T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	728					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGGAGGTGCACTTGGGTCTGC	0.413													60	114					0	0	0	0	G	26881432	C	G	26881432	3	3	441	1	0	0	0	0	1	0	0	0	3146	565	20	4	190	4	CDH9	5	26881432	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08		26881432	154033828	34	86481											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834536	101834536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccagagtgccgggcgaCgcctacgaacatggctcacc	8	5	12	16	4	1	1	1	0	0	1	2	3	2	1	4	2	3	2	4	2	2	1			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:101834536C>T	ENST00000506729.1	-	1	184	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V5I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V5I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V5I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V5I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	5						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGCCGGGCGACGCCTACGAAC	0.701													64	100					0	0	0	0	T	101834536	C	T	101834536	3	4	441	1	0	0	0	0	1	0	0	0	14820	536	19	1	2198	1	SLCO6A1	5	101834536	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	74953104	101834536	79080724	35	86482											
PITX1	5307	broad.mit.edu	37	chr5	134364505	134364505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgttgaggcccgaggcCgggccctgcaggccgccgta	5	4	16	16	6	0	1	0	1	0	0	0	2	0	1	5	4	1	3	5	4	1	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:134364505C>T	ENST00000265340.7	-	3	1325	c.909G>A	c.(907-909)ccG>ccA	p.P303P	PITX1_ENST00000506438.1_Silent_p.P303P	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	303						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGCCCGAGGCCGGGCCCTGCA	0.731													7	16					0	0	0	0	T	134364505	C	T	134364505	2	4	441	1	0	0	0	0	0	0	0	1	12026	639	23	1		1	PITX1	5	134364505	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	32529969	134364505	46550755	36	86483											
SLC34A1	6569	broad.mit.edu	37	chr5	176812989	176812989	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccaggctccctccctagtCctacacaggatcccggggac	8	6	10	17	1	0	0	0	0	0	0	4	3	4	2	5	4	1	1	5	4	2	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:176812989C>T	ENST00000324417.5	+	3	202	c.109_splice	c.e3-1	p.V37_splice	SLC34A1_ENST00000512593.1_Splice_Site_p.V37_splice	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	37					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCTCCCTAGTCCTACACAGGA	0.692													7	46					0	0	0	0	T	176812989	C	T	176812989	5	4	441	1	0	0	0	0	0	0	1	0	14655	869	30	2	117	2	SLC34A1	5	176812989	Splice_Site	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	42448484	176812989	4102271	37	86484											
DUSP22	56940	broad.mit.edu	37	chr6	348269	348269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgagaagcatgaggtcCatcaggtaagcagttcttag	12	11	12	6	0	2	2	1	2	1	1	3	3	3	2	1	2	2	5	1	2	3	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:348269C>A	ENST00000604971.1	+	3	1234	c.121C>A	c.(121-123)Cat>Aat	p.H41N	DUSP22_ENST00000605863.1_Missense_Mutation_p.H41N|DUSP22_ENST00000419235.2_Missense_Mutation_p.H144N|DUSP22_ENST00000605315.1_Missense_Mutation_p.H41N|DUSP22_ENST00000605035.1_Missense_Mutation_p.H41N|DUSP22_ENST00000603453.1_Missense_Mutation_p.H41N|DUSP22_ENST00000344450.5_Missense_Mutation_p.H144N			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	144					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCATGAGGTCCATCAGGTAAG	0.582													11	80					3.07112e-06	3.31294e-06	1	0	A	348269	C	A	348269	3	1	441	1	0	0	0	0	1	0	0	0	4857	594	21	4	452	4	DUSP22	6	348269	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08		348269	170766798	38	86485											
GPLD1	2822	broad.mit.edu	37	chr6	24467490	24467490	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaattcccagtagatctttGactggcacatacctgaaaaa	15	11	6	9	0	1	3	0	2	1	1	2	3	2	3	2	1	1	2	2	1	6	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:24467490G>C	ENST00000230036.1	-	8	668	c.558C>G	c.(556-558)gtC>gtG	p.V186V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	186						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTAGATCTTTGACTGGCACAT	0.368													20	56					0	0	0	0	C	24467490	G	C	24467490	2	2	441	1	0	0	0	0	0	0	0	1	6663	1277	45	2		2	GPLD1	6	24467490	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	24119221	24467490	146647577	39	86486											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861564	27861564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcccggggagctggcCaagcacgccgtgtccgaggg	5	5	17	14	4	0	0	0	0	0	0	1	2	1	1	4	4	4	3	4	4	1	0			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:27861564C>T	ENST00000303806.4	+	1	362	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	108					nucleosome assembly	nucleosome|nucleus	DNA binding										GGGAGCTGGCCAAGCACGCCG	0.637													6	91					0	0	0	0	T	27861564	C	T	27861564	2	4	441	1	0	0	0	0	0	0	0	1	7204	581	21	4		4	HIST1H2BO	6	27861564	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	3394074	27861564	143253503	40	86487											
GPX5	2880	broad.mit.edu	37	chr6	28499613	28499613	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagttgtgttgggctttccCtgcaaccaatttggaaagca	9	13	10	9	0	0	0	0	0	0	0	1	1	1	1	2	2	3	5	2	2	4	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:28499613C>A	ENST00000412168.2	+	3	389	c.300C>A	c.(298-300)ccC>ccA	p.P100P	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Intron	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	100					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGGGCTTTCCCTGCAACCAAT	0.468													80	233					1.10345e-40	1.39975e-40	1	0	A	28499613	C	A	28499613	2	1	441	1	0	0	0	0	0	0	0	1	6793	668	24	4		4	GPX5	6	28499613	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	638049	28499613	142615454	41	86488											
GPX5	2880	broad.mit.edu	37	chr6	28499654	28499654	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaggagataacaaagAgattcttcctgggctcaagt	15	8	10	8	0	2	3	1	0	1	3	3	5	3	3	2	2	2	1	2	2	4	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:28499654A>C	ENST00000412168.2	+	3	430	c.341A>C	c.(340-342)gAg>gCg	p.E114A	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Intron	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	114					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GATAACAAAGAGATTCTTCCT	0.488													39	237					0	0	0	0	C	28499654	A	C	28499654	3	2	441	1	0	0	0	0	1	0	0	0	6793	304	11	5	351	5	GPX5	6	28499654	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	41	28499654	142615413	42	86489											
RNF8	9025	broad.mit.edu	37	chr6	37342436	37342436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaatcgcagcaagaaggActttgaagcaatcattcaag	16	8	9	8	1	2	2	2	1	0	1	3	3	2	3	0	1	2	4	0	1	7	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:37342436A>G	ENST00000373479.4	+	5	1272	c.1079A>G	c.(1078-1080)gAc>gGc	p.D360G	RNF8_ENST00000469731.1_Missense_Mutation_p.D360G	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	360					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGCAAGAAGGACTTTGAAGCA	0.408													27	55					0	0	0	0	G	37342436	A	G	37342436	3	3	441	1	0	0	0	0	1	0	0	0	13585	275	10	5	1097	5	RNF8	6	37342436	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	8842782	37342436	133772631	43	86490											
MRPL2	51069	broad.mit.edu	37	chr6	43023876	43023876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctccagcctgcatgttttCtgtggcgatgatccagcgtt	6	14	10	11	2	2	1	0	1	2	0	4	2	3	1	3	1	3	3	3	1	0	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:43023876C>T	ENST00000388752.3	-	4	887	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.E155K	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	155					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGCATGTTTTCTGTGGCGATG	0.547													12	94					0	0	0	0	T	43023876	C	T	43023876	3	4	441	1	0	0	0	0	1	0	0	0	9855	922	32	2	470	2	MRPL2	6	43023876	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	5681440	43023876	128091191	44	86491											
KLC4	89953	broad.mit.edu	37	chr6	43039083	43039083	+	Frame_Shift_Del	DEL	C	C	-																															caaagagatcctgacccgtgCccatgtacaggagtttgggt																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:43039083delC	ENST00000394056.2	+	10	1721	c.1226delC	c.(1225-1227)gcfs	p.A409fs	KLC4_ENST00000259708.3_Frame_Shift_Del_p.A427fs|KLC4_ENST00000479388.1_Frame_Shift_Del_p.A409fs|KLC4_ENST00000394058.1_Frame_Shift_Del_p.A409fs|KLC4_ENST00000347162.5_Frame_Shift_Del_p.A409fs|KLC4_ENST00000453940.2_Frame_Shift_Del_p.A332fs			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	409						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTGACCCGTGCCCATGTACAG	0.517													14	75	---	---	---	---					-	43039083	C	-	43039083	7	5	441	1	0	1	0	1	0	0	0	0	8388	739	26	0	1383	0	KLC4	6	43039083	Frame_Shift_Del	DEL	C	TCGA-IQ-A6SG-01A-12D-A34J-08	15207	43039083	128075984	45	86492											
LMBRD1	55788	broad.mit.edu	37	chr6	70386387	70386387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagtaagcagcactgaagaaCcagaacttgtgaaggaatag	17	7	11	6	0	0	4	0	2	0	2	0	5	0	5	1	1	4	3	1	1	8	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:70386387C>A	ENST00000370577.3	-	15	1693	c.1464G>T	c.(1462-1464)tgG>tgT	p.W488C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.W415C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	488					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CACTGAAGAACCAGAACTTGT	0.383													21	35					2.21704e-12	2.53112e-12	1	0	A	70386387	C	A	70386387	3	1	441	1	0	0	0	0	1	0	0	0	8897	508	18	4	166	4	LMBRD1	6	70386387	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	27347304	70386387	100728680	46	86493											
ROS1	6098	broad.mit.edu	37	chr6	117677962	117677962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacaagaacattgattcCttttgttttgttggtttgta	9	20	7	5	0	0	2	0	1	0	1	1	2	1	2	1	1	2	4	1	1	4	10			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:117677962C>A	ENST00000368508.3	-	25	4169	c.3971G>T	c.(3970-3972)aGg>aTg	p.R1324M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1319M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1324					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACATTGATTCCTTTTGTTTTG	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								26	71					3.73988e-18	4.57468e-18	1	0	A	117677962	C	A	117677962	3	1	441	1	0	0	0	0	1	0	0	0	13616	681	24	4	3148	4	ROS1	6	117677962	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	47291575	117677962	53437105	47	86494											
ENPP1	5167	broad.mit.edu	37	chr6	132198300	132198300	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctgctcatgtaacccttCggtaagtatcgtcaagaagt	10	12	10	9	2	2	1	2	0	0	1	4	1	2	1	1	2	2	5	1	2	5	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:132198300C>T	ENST00000360971.2	+	18	1912	c.1893_splice	c.e18+1	p.S631_splice		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	631					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGTAACCCTTCGGTAAGTATC	0.428													5	23					0	0	0	0	T	132198300	C	T	132198300	5	4	441	1	0	0	0	0	0	0	1	0	5167	898	31	1	1962	1	ENPP1	6	132198300	Splice_Site	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	14520338	132198300	38916767	48	86495											
ZNF107	51427	broad.mit.edu	37	chr7	64167752	64167752	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactggagagaaaccctacaAatgtaaagaatgtggcaaag	18	7	10	6	0	0	2	0	0	0	2	0	4	0	3	1	2	3	2	1	2	8	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:64167752A>T	ENST00000395391.1	+	4	2445	c.1070A>T	c.(1069-1071)aAa>aTa	p.K357I	ZNF107_ENST00000344930.3_Missense_Mutation_p.K357I|ZNF107_ENST00000423627.1_Missense_Mutation_p.K357I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAACCCTACAAATGTAAAGAA	0.348													23	41					0	0	0	0	T	64167752	A	T	64167752	3	4	441	1	0	0	0	0	1	0	0	0	17810	14	1	5	1076	5	ZNF107	7	64167752	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08		64167752	94970911	49	86496											
MUC17	140453	broad.mit.edu	37	chr7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgatggtaccagcatgCcaaccccagcttatagtgaa	11	9	9	12	0	0	2	0	2	0	0	0	2	0	2	4	1	6	4	4	1	5	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCCCAGC	0.498													6	689					0	0	0	0	T	100680623	C	T	100680623	3	4	441	1	0	0	0	0	1	0	0	0	10044	739	26	4	5936	4	MUC17	7	100680623	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	36512871	100680623	58458040	50	86497											
LAMB4	22798	broad.mit.edu	37	chr7	107669625	107669625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaatagcatattgttttTtcagctcaacaaattcctgt	12	15	7	7	0	2	1	2	0	0	1	3	2	3	1	1	1	3	3	1	1	5	7			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:107669625T>C	ENST00000388781.3	-	33	5092	c.5009A>G	c.(5008-5010)aAa>aGa	p.K1670R	LAMB4_ENST00000388780.3_Missense_Mutation_p.K1670R|LAMB4_ENST00000205386.4_Missense_Mutation_p.K1670R|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1670	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATATTGTTTTTTCAGCTCAAC	0.343													21	126					0	0	0	0	C	107669625	T	C	107669625	3	2	441	1	0	0	0	0	1	0	0	0	8666	1841	64	5	284	5	LAMB4	7	107669625	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	6989002	107669625	51469038	51	86498											
FAM180A	389558	broad.mit.edu	37	chr7	135418804	135418804	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaacgagggactgcgcccaGatgtccttctgatggccgtg	7	9	13	12	3	1	2	0	1	1	1	2	4	2	3	3	2	2	0	3	2	1	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:135418804G>C	ENST00000338588.3	-	3	706	c.441C>G	c.(439-441)atC>atG	p.I147M	FAM180A_ENST00000415751.1_Missense_Mutation_p.I147M	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	147						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ACTGCGCCCAGATGTCCTTCT	0.607													11	42					0	0	0	0	C	135418804	G	C	135418804	3	2	441	1	0	0	0	0	1	0	0	0	5548	932	33	2	84	2	FAM180A	7	135418804	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	27749179	135418804	23719859	52	86499											
PIP	5304	broad.mit.edu	37	chr7	142836630	142836630	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactgtgcaaattgcagcCgtcgttgatgttattcggga	9	12	13	7	3	0	1	0	1	0	0	2	3	0	3	1	2	4	4	1	2	3	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:142836630C>G	ENST00000291009.3	+	4	376	c.336C>G	c.(334-336)gcC>gcG	p.A112A		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	112						extracellular region	actin binding	p.A112A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AAATTGCAGCCGTCGTTGATG	0.463													24	181					0	0	0	0	G	142836630	C	G	142836630	2	3	441	1	0	0	0	0	0	0	0	1	12007	639	23	3		3	PIP	7	142836630	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	7417826	142836630	16302033	53	86500											
CSMD1	64478	broad.mit.edu	37	chr8	3063085	3063085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccagctgtgtaattatggGggtagtttggtgataaaact	11	13	13	4	0	0	1	0	1	0	0	0	2	0	1	1	3	2	4	1	3	5	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:3063085G>T	ENST00000520002.1	-	32	5483	c.4928C>A	c.(4927-4929)cCc>cAc	p.P1643H	CSMD1_ENST00000602723.1_Missense_Mutation_p.P1643H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1643H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1643H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1642H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1643	CUB 10.					integral to membrane		p.P1642L(1)|p.P1371L(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)		GTAATTATGGGGGTAGTTTGG	0.408													6	14					1.26484e-09	1.42036e-09	1	0	T	3063085	G	T	3063085	3	4	441	1	0	0	0	0	1	0	0	0	3976	1232	43	4	5929	4	CSMD1	8	3063085	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		3063085	143300937	54	86501											
ASH2L	9070	broad.mit.edu	37	chr8	37978466	37978466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgaccctttgttttctGctcagcgccttccccctcat	4	14	7	16	1	3	1	2	1	1	0	4	1	4	1	4	0	2	3	4	0	0	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:37978466G>T	ENST00000343823.6	+	10	1273	c.964G>T	c.(964-966)Gct>Tct	p.A322S	ASH2L_ENST00000250635.7_Missense_Mutation_p.A228S|ASH2L_ENST00000545394.1_Missense_Mutation_p.A183S|ASH2L_ENST00000521652.1_Missense_Mutation_p.A228S|ASH2L_ENST00000428278.2_Missense_Mutation_p.A228S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	322					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TTTGTTTTCTGCTCAGCGCCT	0.468											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	44					1.50039e-11	1.69879e-11	1	0	T	37978466	G	T	37978466	3	4	441	1	0	0	0	0	1	0	0	0	1046	1319	46	4	1002	4	ASH2L	8	37978466	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	34915381	37978466	108385556	55	86502											
TRIM55	84675	broad.mit.edu	37	chr8	67062073	67062073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagttggttgagtcaggaaTtcagtttatggatgagccag	12	12	13	4	0	2	2	2	2	0	0	2	4	2	4	1	3	1	3	1	3	3	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:67062073T>C	ENST00000315962.4	+	5	1170	c.797T>C	c.(796-798)aTt>aCt	p.I266T	TRIM55_ENST00000276573.7_Missense_Mutation_p.I266T|TRIM55_ENST00000353317.5_Missense_Mutation_p.I266T|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	266						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GAGTCAGGAATTCAGTTTATG	0.418													19	95					0	0	0	0	C	67062073	T	C	67062073	3	2	441	1	0	0	0	0	1	0	0	0	16624	1493	52	5	815	5	TRIM55	8	67062073	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	29083607	67062073	79301949	56	86503											
SPAG1	6674	broad.mit.edu	37	chr8	101178178	101178179	+	Frame_Shift_Ins	INS	-	-	A																															ttttacagctgaagaatgggINSaaaaaattgatggtgatata																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:101178178_101178179insA	ENST00000388798.2	+	3	468_469	c.277_278insA	c.(277-279)aaafs	p.K93fs	SPAG1_ENST00000520643.1_Frame_Shift_Ins_p.K93fs|SPAG1_ENST00000520508.1_Frame_Shift_Ins_p.K93fs|SPAG1_ENST00000251809.3_Frame_Shift_Ins_p.K93fs	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	93					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGAAGAATGGGAAAAAATTGAT	0.361													11	88	---	---	---	---					A	101178179	-	A	101178178	7	5	441	1	0	1	1	0	0	0	0	0	15065	1175	41	0	283	0	SPAG1	8	101178178	Frame_Shift_Ins	INS	-	TCGA-IQ-A6SG-01A-12D-A34J-08	34116105	101178178	45185844	57	86504											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478858	110478858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgctagacccttctcAttgtactcaggaagctgagt	9	13	8	11	0	3	2	3	1	1	1	4	3	3	3	1	1	3	3	1	1	3	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:110478858A>G	ENST00000378402.5	+	50	8569	c.8465A>G	c.(8464-8466)cAt>cGt	p.H2822R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2822					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCCTTCTCATTGTACTCAG	0.438										HNSCC(38;0.096)			5	20					0	0	0	0	G	110478858	A	G	110478858	3	3	441	1	0	0	0	0	1	0	0	0	12044	217	8	5	8663	5	PKHD1L1	8	110478858	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	9300680	110478858	35885164	58	86505											
AKR1C2	1646	broad.mit.edu	37	chr10	5042613	5042613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggaattaggagttatGtttagggctcttcttccatg	11	14	11	5	0	2	1	0	0	2	1	3	3	3	3	1	3	0	3	1	3	5	6			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr10:5042613G>A	ENST00000455190.1	-	4	434	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	AKR1C2_ENST00000421196.3_Intron|AKR1C2_ENST00000380753.4_Intron|AKR1C2_ENST00000407674.1_Intron	NM_001135241.2	NP_001128713.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	0					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	TAGGAGTTATGTTTAGGGCTC	0.363													9	26					0	0	0	0	A	5042613	G	A	5042613	3	1	441	1	0	0	0	0	1	0	0	0	470	1377	48	4	641	4	AKR1C2	10	5042613	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		5042613	130492134	59	86506											
C10orf10	11067	broad.mit.edu	37	chr10	45473232	45473232	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacgtgcggtgatgtctcGcagggacacagcagggcggc	9	5	17	10	4	1	1	0	1	1	0	2	3	1	2	0	4	3	2	0	4	1	0			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr10:45473232G>A	ENST00000298295.3	-	2	464	c.247C>T	c.(247-249)Cga>Tga	p.R83*	RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000374417.2_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	83						mitochondrion				lung(1)	1						GTGATGTCTCGCAGGGACACA	0.667													21	29					0	0	0	0	A	45473232	G	A	45473232	4	1	441	1	0	0	0	0	0	1	0	0	1589	1095	38	1	395	1	C10orf10	10	45473232	Nonsense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	40430619	45473232	90061515	60	86507											
OIT3	170392	broad.mit.edu	37	chr10	74690334	74690334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaagcagtacacatcccGggatcacctagcaaagcact	14	6	9	12	1	1	0	1	0	0	0	2	1	2	1	2	2	4	5	2	2	5	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr10:74690334G>A	ENST00000334011.5	+	8	1624	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	469	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TACACATCCCGGGATCACCTA	0.438													39	145					0	0	0	0	A	74690334	G	A	74690334	3	1	441	1	0	0	0	0	1	0	0	0	10920	1116	39	1	1436	1	OIT3	10	74690334	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	29217102	74690334	60844413	61	86508											
MUC5B	727897	broad.mit.edu	37	chr11	1263956	1263956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaccacacccacagtcaCcagctccaaagccactccct	11	4	5	21	0	1	0	1	0	0	0	3	0	3	0	7	1	2	1	7	1	1	0			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:1263956C>A	ENST00000447027.1	+	31	5913	c.5855C>A	c.(5854-5856)aCc>aAc	p.T1952N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T1949N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1949	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACAGTCACCAGCTCCAAA	0.637													20	207					1.33834e-09	1.49067e-09	1	0	A	1263956	C	A	1263956	3	1	441	1	0	0	0	0	1	0	0	0	10049	507	18	4	5977	4	MUC5B	11	1263956	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08		1263956	133742560	62	86509											
PPFIBP2	8495	broad.mit.edu	37	chr11	7674313	7674313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaaagaagttcgatgaatCgacggactacatttgcccaa	17	8	8	8	3	0	2	0	1	0	1	2	5	0	3	1	1	2	1	1	1	7	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:7674313C>T	ENST00000299492.4	+	24	2883	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S674L|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S689L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S720L	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	832					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TTCGATGAATCGACGGACTAC	0.473													31	209					0	0	0	0	T	7674313	C	T	7674313	3	4	441	1	0	0	0	0	1	0	0	0	12385	893	31	1	2585	1	PPFIBP2	11	7674313	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	6410357	7674313	127332203	63	86510											
NLRP10	338322	broad.mit.edu	37	chr11	7982173	7982173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcttgcttctcatccGtgaaataggagctgaagtac	10	11	11	9	1	2	2	2	2	1	0	4	3	3	3	1	2	4	4	1	2	4	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:7982173G>A	ENST00000328600.2	-	2	1147	c.986C>T	c.(985-987)aCg>aTg	p.T329M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	329	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCTCATCCGTGAAATAGGA	0.507													39	105					0	0	0	0	A	7982173	G	A	7982173	3	1	441	1	0	0	0	0	1	0	0	0	10542	1145	40	1	985	1	NLRP10	11	7982173	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	307860	7982173	127024343	64	86511											
NELL1	4745	broad.mit.edu	37	chr11	21556011	21556011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccactgtgagtgcagaagCggtttccatgacgatgggac	10	9	13	9	2	0	3	0	2	0	1	1	5	1	4	2	2	3	2	2	2	2	2	rs147459765	byFrequency	TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:21556011C>T	ENST00000298925.5	+	17	1974	c.1821C>T	c.(1819-1821)agC>agT	p.S607S	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Silent_p.S579S|NELL1_ENST00000325319.5_Silent_p.S522S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	579	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGCAGAAGCGGTTTCCATG	0.527													46	73					0	0	0	0	T	21556011	C	T	21556011	2	4	441	1	0	0	0	0	0	0	0	1	10403	767	27	1		1	NELL1	11	21556011	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	13573838	21556011	113450505	65	86512											
AHNAK	79026	broad.mit.edu	37	chr11	62287002	62287002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctggcccttcgatgttaaTatctgggctgtccatgtgta	7	15	10	9	1	2	0	0	0	2	0	4	1	3	0	2	2	0	3	2	2	3	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:62287002T>C	ENST00000378024.4	-	5	15161	c.14887A>G	c.(14887-14889)Att>Gtt	p.I4963V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4963					nervous system development	nucleus	protein binding			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)				TCGATGTTAATATCTGGGCTG	0.443													43	136					0	0	0	0	C	62287002	T	C	62287002	3	2	441	1	0	0	0	0	1	0	0	0	414	1406	49	5	2905	5	AHNAK	11	62287002	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	40730991	62287002	72719514	66	86513											
VEGFB	7423	broad.mit.edu	37	chr11	64004683	64004683	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaggacagtgctgtGaagccagacaggtgagtctt	16	7	12	6	0	1	3	0	2	1	1	1	4	1	4	1	2	2	1	1	2	5	1			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:64004683G>T	ENST00000309422.2	+	5	695	c.399G>T	c.(397-399)gtG>gtT	p.V133V	VEGFB_ENST00000426086.2_Silent_p.V133V	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	133					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						ACAGTGCTGTGAAGCCAGACA	0.488													35	120					1.04594e-18	1.29093e-18	1	0	T	64004683	G	T	64004683	2	4	441	1	0	0	0	0	0	0	0	1	17247	1277	45	2		2	VEGFB	11	64004683	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	1717681	64004683	71001833	67	86514											
SPTBN2	6712	broad.mit.edu	37	chr11	66460751	66460751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaactgctgggctcgcaggGcatcctccagtcgcttccct	6	9	11	15	2	0	1	0	0	0	1	5	1	3	1	3	2	2	5	3	2	1	1			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:66460751G>A	ENST00000533211.1	-	24	5091	c.4760C>T	c.(4759-4761)gCc>gTc	p.A1587V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1587V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1587V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1587					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCTCGCAGGGCATCCTCCAG	0.632													4	111					0	0	0	0	A	66460751	G	A	66460751	3	1	441	1	0	0	0	0	1	0	0	0	15210	1203	42	4	2472	4	SPTBN2	11	66460751	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	2456068	66460751	68545765	68	86515											
SERPINH1	871	broad.mit.edu	37	chr11	75277940	75277940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgcgcagaccaccgaCggcaagctgcccgaggtcac	8	3	14	16	5	1	1	1	0	0	1	1	3	1	1	4	3	2	3	4	3	1	0			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:75277940C>T	ENST00000524558.1	+	2	1981	c.546C>T	c.(544-546)gaC>gaT	p.D182D	SERPINH1_ENST00000533603.1_Silent_p.D182D|SERPINH1_ENST00000530284.1_Silent_p.D182D|SERPINH1_ENST00000358171.3_Silent_p.D182D			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	182					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					AGACCACCGACGGCAAGCTGC	0.647													40	43					0	0	0	0	T	75277940	C	T	75277940	2	4	441	1	0	0	0	0	0	0	0	1	14204	535	19	1		1	SERPINH1	11	75277940	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	8817189	75277940	59728576	69	86516											
DLG2	1740	broad.mit.edu	37	chr11	84028117	84028117	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccctgatcagggtgggCgcactcctgacggcatccat	7	8	12	14	2	1	2	1	2	0	0	4	2	4	2	3	3	0	3	3	3	0	0	rs45482499		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:84028117C>A	ENST00000280241.8	-	1	71	c.72G>T	c.(70-72)gcG>gcT	p.A24A	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398301.2_Silent_p.A24A	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCAGGGTGGGCGCACTCCTGA	0.597													106	157					9.16818e-52	1.17387e-51	1	0	A	84028117	C	A	84028117	2	1	441	1	0	0	0	0	0	0	0	1	4592	783	27	3		3	DLG2	11	84028117	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	8750177	84028117	50978399	70	86517											
CCDC67	159989	broad.mit.edu	37	chr11	93141395	93141395	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatagtttattttattctctAgagtatggacttcactaaca	12	17	6	6	0	2	1	1	0	1	1	3	3	2	2	0	1	1	2	0	1	6	10			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:93141395A>G	ENST00000298050.3	+	12	1426		c.e12-1		CCDC67_ENST00000525646.1_Splice_Site	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67											endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTATTCTCTAGAGTATGGAC	0.353													7	12					0	0	0	0	G	93141395	A	G	93141395	5	3	441	1	0	0	0	0	0	0	1	0	2866	434	15	5	1367	5	CCDC67	11	93141395	Splice_Site	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	9113278	93141395	41865121	71	86518											
MAML2	84441	broad.mit.edu	37	chr11	95826425	95826425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaagcccatgttaaacAggccattgccaggagaatgt	12	10	9	10	0	0	1	0	0	0	1	0	2	0	1	4	2	3	1	4	2	4	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:95826425A>G	ENST00000524717.1	-	2	2054	c.770T>C	c.(769-771)cTg>cCg	p.L257P		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	257					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CATGTTAAACAGGCCATTGCC	0.478			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								30	53					0	0	0	0	G	95826425	A	G	95826425	3	3	441	1	0	0	0	0	1	0	0	0	9275	188	7	5	2716	5	MAML2	11	95826425	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	2685030	95826425	39180091	72	86519											
USP28	57646	broad.mit.edu	37	chr11	113670032	113670032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatcggctacataggtcaTagggagaattgggtcgaatt	13	10	12	6	2	1	1	1	0	0	1	3	3	1	1	0	4	1	1	0	4	6	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:113670032T>C	ENST00000003302.4	-	25	3232	c.3164A>G	c.(3163-3165)tAt>tGt	p.Y1055C	USP28_ENST00000545540.1_Missense_Mutation_p.Y898C|USP28_ENST00000544967.1_Missense_Mutation_p.Y731C|USP28_ENST00000260188.5_Missense_Mutation_p.Y1023C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1055					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACATAGGTCATAGGGAGAATT	0.473													67	76					0	0	0	0	C	113670032	T	C	113670032	3	2	441	1	0	0	0	0	1	0	0	0	17154	1406	49	5	73	5	USP28	11	113670032	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	17843607	113670032	21336484	73	86520											
SIDT2	51092	broad.mit.edu	37	chr11	117060985	117060985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacaaccgggccctgctgCgcaatgacctctgtgccctg	7	7	10	17	2	1	1	0	1	1	0	1	1	1	1	5	1	4	2	5	1	2	0			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:117060985C>T	ENST00000324225.4	+	17	2128	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	SIDT2_ENST00000431081.2_Missense_Mutation_p.R530C	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	533						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGCCCTGCTGCGCAATGACCT	0.602													23	90					0	0	0	0	T	117060985	C	T	117060985	3	4	441	1	0	0	0	0	1	0	0	0	14391	768	27	1	1663	1	SIDT2	11	117060985	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	3390953	117060985	17945531	74	86521											
OR10G4	390264	broad.mit.edu	37	chr11	123886371	123886371	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttggaatcttcctGgtggtttacgtgctcactgt	4	17	9	11	1	3	0	1	0	2	0	5	1	5	1	2	3	2	2	2	3	2	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:123886371G>T	ENST00000320891.4	+	1	90	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAATCTTCCTGGTGGTTTACG	0.572													13	38					4.72057e-08	5.17375e-08	1	0	T	123886371	G	T	123886371	2	4	441	1	0	0	0	0	0	0	0	1	10972	1335	47	4		4	OR10G4	11	123886371	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	6825386	123886371	11120145	75	86522											
OR10G9	219870	broad.mit.edu	37	chr11	123893809	123893809	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactctttggaatcttcctGgtggtttacgtgctcactgt	5	16	9	11	1	3	0	1	0	2	0	4	1	4	1	2	3	2	2	2	3	2	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:123893809G>T	ENST00000375024.1	+	1	90	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAATCTTCCTGGTGGTTTACG	0.577													7	268					1.5842e-08	1.75029e-08	1	0	T	123893809	G	T	123893809	2	4	441	1	0	0	0	0	0	0	0	1	10975	1335	47	4		4	OR10G9	11	123893809	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	7438	123893809	11112707	76	86523											
OR10G7	390265	broad.mit.edu	37	chr11	123909619	123909619	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgagcacgtaaaccacCaggaagattccaaagagggg	16	4	12	9	1	0	3	0	1	0	2	1	4	1	4	3	3	2	2	3	3	4	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:123909619C>A	ENST00000330487.5	-	1	98	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGTAAACCACCAGGAAGATTC	0.572													16	145					1.64293e-13	1.92378e-13	1	0	A	123909619	C	A	123909619	2	1	441	1	0	0	0	0	0	0	0	1	10973	581	21	4		4	OR10G7	11	123909619	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	15810	123909619	11096897	77	86524											
LRRK2	120892	broad.mit.edu	37	chr12	40651059	40651059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaatctcagttaatttcaGaaaaatactgttatcaaaag	20	12	4	5	0	3	1	3	0	1	1	4	1	3	1	0	0	1	2	0	0	9	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:40651059G>A	ENST00000298910.7	+	12	1356	c.1298G>A	c.(1297-1299)aGa>aAa	p.R433K	LRRK2_ENST00000343742.2_Missense_Mutation_p.R433K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	433					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTAATTTCAGAAAAATACTG	0.274													33	64					0	0	0	0	A	40651059	G	A	40651059	3	1	441	1	0	0	0	0	1	0	0	0	9097	942	33	2	1344	2	LRRK2	12	40651059	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		40651059	93200836	78	86525											
ERBB3	2065	broad.mit.edu	37	chr12	56480395	56480395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactggagggacatcgtgAgggaccgagatgctgagata	11	8	16	6	2	0	4	0	3	0	2	1	9	0	7	1	3	1	1	1	3	1	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:56480395A>G	ENST00000267101.3	+	4	942	c.502A>G	c.(502-504)Agg>Ggg	p.R168G	ERBB3_ENST00000415288.2_Missense_Mutation_p.R109G|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	168					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGACATCGTGAGGGACCGAGA	0.498													5	89					0	0	0	0	G	56480395	A	G	56480395	3	3	441	1	0	0	0	0	1	0	0	0	5246	295	11	5	647	5	ERBB3	12	56480395	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	15829336	56480395	77371500	79	86526											
HAL	3034	broad.mit.edu	37	chr12	96384170	96384170	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgctacgagtcttaCgtatttagcatcagcccagc	11	10	9	11	2	2	1	1	0	1	1	2	2	2	1	1	0	7	4	1	0	5	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:96384170C>G	ENST00000261208.3	-	10	1224		c.e10+1		HAL_ENST00000541929.1_Splice_Site|HAL_ENST00000551562.1_Splice_Site|HAL_ENST00000538703.1_Splice_Site	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase						biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACGAGTCTTACGTATTTAGCA	0.522													30	51					0	0	0	0	G	96384170	C	G	96384170	5	3	441	1	0	0	0	0	0	0	1	0	6997	550	19	3	1165	3	HAL	12	96384170	Splice_Site	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	39903775	96384170	37467725	80	86527											
STAB2	55576	broad.mit.edu	37	chr12	104131454	104131454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacctgcagaattgtgcagCgggagctcttgtttgacctg	9	11	12	9	1	1	2	0	1	1	1	1	3	1	3	2	1	5	4	2	1	2	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:104131454C>T	ENST00000388887.2	+	53	5797	c.5593C>T	c.(5593-5595)Cgg>Tgg	p.R1865W		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1865	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATTGTGCAGCGGGAGCTCTT	0.483													15	81					0	0	0	0	T	104131454	C	T	104131454	3	4	441	1	0	0	0	0	1	0	0	0	15328	759	27	1	5803	1	STAB2	12	104131454	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	7747284	104131454	29720441	81	86528											
IFT81	28981	broad.mit.edu	37	chr12	110600833	110600833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagagaaatcagacccGtgaatttgatggtactgaag	16	9	11	5	1	1	5	1	3	0	2	1	6	1	5	1	1	1	2	1	1	6	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:110600833G>T	ENST00000242591.5	+	11	1657	c.1151G>T	c.(1150-1152)cGt>cTt	p.R384L	IFT81_ENST00000361948.4_Missense_Mutation_p.R384L|IFT81_ENST00000552912.1_Missense_Mutation_p.R384L|IFT81_ENST00000549009.1_3'UTR	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	384					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATCAGACCCGTGAATTTGAT	0.418													37	69					2.59497e-14	3.06475e-14	1	0	T	110600833	G	T	110600833	3	4	441	1	0	0	0	0	1	0	0	0	7618	1145	40	3	1189	3	IFT81	12	110600833	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	6469379	110600833	23251062	82	86529											
CLIP1	6249	broad.mit.edu	37	chr12	122825429	122825429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaagtgcatcaagatcCaagagcttttcttcagtagc	11	12	8	10	1	3	2	2	0	1	2	5	3	5	2	2	0	3	3	2	0	4	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:122825429C>T	ENST00000358808.2	-	10	2443	c.2289G>A	c.(2287-2289)ttG>ttA	p.L763L	CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000540338.1_Silent_p.L774L|CLIP1_ENST00000537178.1_Silent_p.L728L|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000302528.7_Silent_p.L763L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	774					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CATCAAGATCCAAGAGCTTTT	0.408													34	134					0	0	0	0	T	122825429	C	T	122825429	2	4	441	1	0	0	0	0	0	0	0	1	3562	593	21	4		4	CLIP1	12	122825429	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	12224596	122825429	11026466	83	86530											
MTUS2	23281	broad.mit.edu	37	chr13	29608146	29608146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggattgggtgcaatgtcccGtttaccatctgcaaagagca	11	10	11	9	1	1	1	0	0	1	1	2	2	2	2	2	2	4	4	2	2	3	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr13:29608146G>A	ENST00000431530.3	+	2	2418	c.2360G>A	c.(2359-2361)cGt>cAt	p.R787H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	777	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAATGTCCCGTTTACCATCT	0.512													7	33					0	0	0	0	A	29608146	G	A	29608146	3	1	441	1	0	0	0	0	1	0	0	0	10036	1145	40	1	2366	1	MTUS2	13	29608146	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		29608146	85561732	84	86531											
RB1	5925	broad.mit.edu	37	chr13	48951141	48951141	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaatttgctaaagctgtgGgacagggttgtgtcgaaatt	12	12	13	4	1	0	1	0	0	0	1	1	3	0	2	0	2	2	3	0	2	4	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr13:48951141G>T	ENST00000267163.4	+	13	1441	c.1303G>T	c.(1303-1305)Gga>Tga	p.G435*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	435	Domain A.|Pocket; binds T and E1A.				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.?(8)|p.G435*(1)		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)	TAAAGCTGTGGGACAGGGTTG	0.353		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)			51	45					7.05377e-20	8.78515e-20	1	0	T	48951141	G	T	48951141	4	4	441	1	0	0	0	0	0	1	0	0	13180	1233	43	4	1353	4	RB1	13	48951141	Nonsense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	19342995	48951141	66218737	85	86532											
OR4K13	390433	broad.mit.edu	37	chr14	20502685	20502685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatctacaatcatcttagggGtagcaaaagaagccaggatc	16	8	9	8	0	3	1	1	0	2	1	4	2	3	2	1	3	3	2	1	3	8	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:20502685G>A	ENST00000315693.2	-	1	234	c.233C>T	c.(232-234)aCc>aTc	p.T78I		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CATCTTAGGGGTAGCAAAAGA	0.458													20	52					0	0	0	0	A	20502685	G	A	20502685	3	1	441	1	0	0	0	0	1	0	0	0	11139	1261	44	4	683	4	OR4K13	14	20502685	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		20502685	86846855	86	86533											
ARID4A	5926	broad.mit.edu	37	chr14	58817876	58817876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaaattaaaagataatgAtacagaaaataaggatgtag	23	8	8	2	0	0	4	0	1	0	3	0	5	0	5	0	1	1	1	0	1	9	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:58817876A>G	ENST00000355431.3	+	16	1863	c.1490A>G	c.(1489-1491)gAt>gGt	p.D497G	ARID4A_ENST00000431317.2_Missense_Mutation_p.D497G|ARID4A_ENST00000395168.3_Missense_Mutation_p.D497G|ARID4A_ENST00000348476.3_Missense_Mutation_p.D497G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	497					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGATAATGATACAGAAAAT	0.333													21	60					0	0	0	0	G	58817876	A	G	58817876	3	3	441	1	0	0	0	0	1	0	0	0	921	333	12	5	1548	5	ARID4A	14	58817876	Missense_Mutation	SNP	A	TCGA-IQ-A6SG-01A-12D-A34J-08	38315191	58817876	48531664	87	86534											
SLC24A4	123041	broad.mit.edu	37	chr14	92922825	92922825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcacgagaacattgagaaCgggaatgttcctgtggaaaa	15	7	13	6	2	0	2	0	1	0	2	1	6	1	4	1	3	2	2	1	3	5	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:92922825C>T	ENST00000532405.1	+	12	1354	c.1128C>T	c.(1126-1128)aaC>aaT	p.N376N	SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000351924.5_Silent_p.N340N|SLC24A4_ENST00000531433.1_Silent_p.N357N|SLC24A4_ENST00000393265.2_Silent_p.N312N|SLC24A4_ENST00000298877.1_Silent_p.N359N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	376						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ACATTGAGAACGGGAATGTTC	0.597											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	50					0	0	0	0	T	92922825	C	T	92922825	2	4	441	1	0	0	0	0	0	0	0	1	14556	535	19	1		1	SLC24A4	14	92922825	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	34104949	92922825	14426715	88	86535											
AHNAK2	113146	broad.mit.edu	37	chr14	105407146	105407146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcatgtaggtctcccTcaggaactgccatttggggg	6	11	13	11	0	2	0	1	0	1	0	3	1	2	1	2	4	4	3	2	4	2	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:105407146T>C	ENST00000333244.5	-	7	14761	c.14642A>G	c.(14641-14643)gAg>gGg	p.E4881G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4881						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TAGGTCTCCCTCAGGAACTGC	0.502													10	41					0	0	0	0	C	105407146	T	C	105407146	3	2	441	1	0	0	0	0	1	0	0	0	415	1551	54	5	2749	5	AHNAK2	14	105407146	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	12484321	105407146	1942394	89	86536											
BTBD6	90135	broad.mit.edu	37	chr14	105716856	105716856	+	Frame_Shift_Del	DEL	C	C	-																															ttctacacggccagtgccgtCctggacggcagcgaactcag																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:105716856delC	ENST00000463376.2	+	3	1621	c.1080delC	c.(1078-1080)gtfs	p.V360fs	BTBD6_ENST00000327471.3_Frame_Shift_Del_p.V360fs|BTBD6_ENST00000536364.1_Frame_Shift_Del_p.V435fs|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000392554.3_Frame_Shift_Del_p.V435fs|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	435						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CCAGTGCCGTCCTGGACGGCA	0.572													39	82	---	---	---	---					-	105716856	C	-	105716856	7	5	441	1	0	1	0	1	0	0	0	0	1554	842	30	0	1319	0	BTBD6	14	105716856	Frame_Shift_Del	DEL	C	TCGA-IQ-A6SG-01A-12D-A34J-08	309710	105716856	1632684	90	86537											
HERC2	8924	broad.mit.edu	37	chr15	28515878	28515878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctacacagcggaggcataCagggcgtagccagacggtct	11	5	14	11	3	1	1	0	0	1	1	1	2	1	2	1	4	5	3	1	4	3	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr15:28515878C>T	ENST00000261609.7	-	10	1328	c.1220G>A	c.(1219-1221)tGt>tAt	p.C407Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	407					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGGAGGCATACAGGGCGTAGC	0.512													4	70					0	0	0	0	T	28515878	C	T	28515878	3	4	441	1	0	0	0	0	1	0	0	0	7108	478	17	4	13620	4	HERC2	15	28515878	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08		28515878	74015514	91	86538											
KBTBD13	390594	broad.mit.edu	37	chr15	65370387	65370387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcaaccgcatgttcacgCtgctctacgccatcgagggc	7	8	11	15	5	3	0	2	0	1	0	4	1	3	0	2	2	3	4	2	2	2	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr15:65370387C>A	ENST00000432196.2	+	1	1234	c.1234C>A	c.(1234-1236)Ctg>Atg	p.L412M		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	412						cytoplasm				lung(1)|prostate(1)|skin(1)	3						CATGTTCACGCTGCTCTACGC	0.667													7	27					8.12818e-05	8.50047e-05	1	0	A	65370387	C	A	65370387	3	1	441	1	0	0	0	0	1	0	0	0	8045	796	28	4	1236	4	KBTBD13	15	65370387	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	36854509	65370387	37161005	92	86539											
PRSS33	260429	broad.mit.edu	37	chr16	2834670	2834670	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgacgcgagcctgaatcCaggggctatatgtggccaca	10	7	13	11	2	0	2	0	2	0	0	1	3	1	2	3	3	2	2	3	3	3	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr16:2834670C>T	ENST00000293851.5	-	6	977	c.818G>A	c.(817-819)tGg>tAg	p.W273*	PRSS33_ENST00000570702.1_Nonsense_Mutation_p.W273*|PRSS33_ENST00000576886.1_3'UTR	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	273	Peptidase S1.				proteolysis		serine-type endopeptidase activity			prostate(1)	1						AGCCTGAATCCAGGGGCTATA	0.637													9	9					0	0	0	0	T	2834670	C	T	2834670	4	4	441	1	0	0	0	0	0	1	0	0	12702	595	21	4	28	4	PRSS33	16	2834670	Nonsense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08		2834670	87520083	93	86540											
ABCC11	85320	broad.mit.edu	37	chr16	48210931	48210931	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgtctctgtatttcaTgtgataatcctgaaatatga	10	18	8	5	0	2	3	1	3	1	0	4	3	3	3	1	0	0	2	1	0	4	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr16:48210931T>A	ENST00000394747.1	-	24	3791	c.3442A>T	c.(3442-3444)Atg>Ttg	p.M1148L	ABCC11_ENST00000394748.1_Missense_Mutation_p.M1148L|ABCC11_ENST00000353782.5_Missense_Mutation_p.M1148L|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.M1148L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1148	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGTATTTCATGTGATAATCC	0.532													44	16					0	0	0	0	A	48210931	T	A	48210931	3	1	441	1	0	0	0	0	1	0	0	0	51	1464	51	5	730	5	ABCC11	16	48210931	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	45376261	48210931	42143822	94	86541											
CDH3	1001	broad.mit.edu	37	chr16	68710361	68710361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcactgtgcggaatggCgagacagtccaggtaaaata	13	8	12	8	2	1	1	1	0	0	1	2	4	2	2	1	3	1	1	1	3	4	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr16:68710361C>T	ENST00000264012.4	+	3	778	c.234C>T	c.(232-234)ggC>ggT	p.G78G	CDH3_ENST00000581171.1_Silent_p.G23G|CDH3_ENST00000429102.2_Silent_p.G78G	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	78					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGCGGAATGGCGAGACAGTCC	0.517													11	45					0	0	0	0	T	68710361	C	T	68710361	2	4	441	1	0	0	0	0	0	0	0	1	3140	755	27	1		1	CDH3	16	68710361	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	20499430	68710361	21644392	95	86542											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			9	12					0	0	0	0	A	7577094	G	A	7577094	3	1	441	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		7577094	73618116	96	86543											
KIF2B	84643	broad.mit.edu	37	chr17	51901844	51901844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctcaaagaatgtattctgGctttgggtcagaacaagcct	11	11	9	10	0	3	2	2	0	1	2	3	2	3	2	2	2	2	2	2	2	5	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:51901844G>C	ENST00000268919.4	+	1	1606	c.1450G>C	c.(1450-1452)Gct>Cct	p.A484P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	484					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGTATTCTGGCTTTGGGTCA	0.507													27	34					0	0	0	0	C	51901844	G	C	51901844	3	2	441	1	0	0	0	0	1	0	0	0	8349	1203	42	4	1452	4	KIF2B	17	51901844	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	44324750	51901844	29293366	97	86544											
EPX	8288	broad.mit.edu	37	chr17	56281637	56281637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacagcgcaaggccctgagCagaatttccttgtctcgaat	11	9	10	11	2	1	3	0	1	1	2	3	4	2	3	2	1	2	2	2	1	3	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:56281637C>A	ENST00000225371.5	+	12	2111	c.2001C>A	c.(1999-2001)agC>agA	p.S667R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	667					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AGGCCCTGAGCAGAATTTCCT	0.502													17	109					9.7654e-05	0.000101353	1	0	A	56281637	C	A	56281637	3	1	441	1	0	0	0	0	1	0	0	0	5238	709	25	4	2047	4	EPX	17	56281637	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	4379793	56281637	24913573	98	86545											
HGS	9146	broad.mit.edu	37	chr17	79652675	79652675	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggagacagattgggaGtccattttgcagatctgcga	9	12	13	7	1	1	3	0	0	1	3	2	6	2	4	1	2	2	2	1	2	0	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:79652675G>A	ENST00000329138.4	+	2	213	c.78G>A	c.(76-78)gaG>gaA	p.E26E		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	26	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGATTGGGAGTCCATTTTGC	0.597													36	79					0	0	0	0	A	79652675	G	A	79652675	2	1	441	1	0	0	0	0	0	0	0	1	7137	1020	36	4		4	HGS	17	79652675	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	23371038	79652675	1542535	99	86546											
TGIF1	7050	broad.mit.edu	37	chr18	3457732	3457732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagatatacagcagatagcgGccaaaaacttcacagacacc	17	5	7	12	1	1	3	1	0	0	3	1	3	1	3	2	1	4	1	2	1	5	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr18:3457732G>A	ENST00000472042.1	+	2	1537	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	TGIF1_ENST00000551541.1_Missense_Mutation_p.A185T|TGIF1_ENST00000401449.1_Missense_Mutation_p.A185T|TGIF1_ENST00000400167.2_Missense_Mutation_p.A185T|TGIF1_ENST00000343820.5_Missense_Mutation_p.A205T|TGIF1_ENST00000405385.3_Missense_Mutation_p.A185T|TGIF1_ENST00000330513.5_Missense_Mutation_p.A334T|TGIF1_ENST00000345133.5_Missense_Mutation_p.A185T|TGIF1_ENST00000407501.2_Missense_Mutation_p.A205T|TGIF1_ENST00000548489.2_Missense_Mutation_p.A219T			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	334					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCAGATAGCGGCCAAAAACTT	0.483													4	55					0	0	0	0	A	3457732	G	A	3457732	3	1	441	1	0	0	0	0	1	0	0	0	15919	1203	42	4	1092	4	TGIF1	18	3457732	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		3457732	74619516	100	86547											
CEACAM5	1048	broad.mit.edu	37	chr19	42223994	42223994	+	Missense_Mutation	SNP	G	G	T																															agcctcccagtcagtcccagGctgcagctgtccaatggcaa																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr19:42223994G>T	ENST00000221992.6	+	7	1752	c.1638G>T	c.(1636-1638)agG>agT	p.R546S	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R545S|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R546S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	546	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				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)		TCAGTCCCAGGCTGCAGCTGT	0.517													44	171					3.4345e-17	4.12742e-17	1	0	T	42223994	G	T	42223994	3	4	441	1	0	0	0	0	1	0	0	0	3224	1194	42	4	1664	4	CEACAM5	19	42223994	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		42223994	16904989	101	86548	1081	2									
CEACAM5	1048	broad.mit.edu	37	chr19	42223995	42223995	+	Silent	SNP	C	C	T																															gcctcccagtcagtcccaggCtgcagctgtccaatggcaac																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr19:42223995C>T	ENST00000221992.6	+	7	1753	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.L546L|CEACAM5_ENST00000405816.1_Silent_p.L547L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	547	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				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)		CAGTCCCAGGCTGCAGCTGTC	0.517													44	172					0	0	0	0	T	42223995	C	T	42223995	2	4	441	1	0	0	0	0	0	0	0	1	3224	796	28	4		4	CEACAM5	19	42223995	Silent	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	1	42223995	16904988	102	86549	1081	2									
RELB	5971	broad.mit.edu	37	chr19	45515405	45515405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcccgggcccgcagccGcacctggtcatcacggagca	6	3	14	18	5	2	0	2	0	0	0	2	1	2	1	5	4	2	3	5	4	0	0			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr19:45515405G>A	ENST00000221452.8	+	4	525	c.375G>A	c.(373-375)ccG>ccA	p.P125P	RELB_ENST00000505236.1_Silent_p.P122P|RELB_ENST00000540120.1_Silent_p.P125P	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	125	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCCCGCAGCCGCACCTGGTCA	0.761													7	23					0	0	0	0	A	45515405	G	A	45515405	2	1	441	1	0	0	0	0	0	0	0	1	13299	1074	38	1		1	RELB	19	45515405	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	3291410	45515405	13613578	103	86550											
SHANK1	50944	broad.mit.edu	37	chr19	51219708	51219708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttggccgtccagatggTggcatcggggttgaagcgaa	7	9	16	9	3	0	2	0	1	0	1	2	3	1	2	2	5	2	3	2	5	2	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr19:51219708T>C	ENST00000293441.1	-	2	301	c.283A>G	c.(283-285)Acc>Gcc	p.T95A	SHANK1_ENST00000359082.3_Missense_Mutation_p.T95A|SHANK1_ENST00000391814.1_Missense_Mutation_p.T95A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	95					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCCAGATGGTGGCATCGGGG	0.632													6	39					0	0	0	0	C	51219708	T	C	51219708	3	2	441	1	0	0	0	0	1	0	0	0	14352	1696	59	5	6290	5	SHANK1	19	51219708	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	5704303	51219708	7909275	104	86551											
ATRN	8455	broad.mit.edu	37	chr20	3575126	3575126	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttttcttctctgcagCatgcaagtgcaatgggcacg	7	14	9	11	1	2	0	0	0	2	0	4	0	3	0	1	1	4	5	1	1	2	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr20:3575126C>A	ENST00000262919.5	+	20	3391	c.3322_splice	c.e20-1	p.P1108_splice	ATRN_ENST00000446916.2_Splice_Site_p.P1108_splice	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1108	Laminin EGF-like 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCTCTGCAGCATGCAAGTGC	0.473													3	31					0.004672	0.00470635	1	0	A	3575126	C	A	3575126	5	1	441	1	0	0	0	0	0	0	1	0	1210	724	25	4	3401	4	ATRN	20	3575126	Splice_Site	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08		3575126	59450394	105	86552											
CTNNBL1	56259	broad.mit.edu	37	chr20	36361471	36361471	+	Splice_Site	DEL	T	T	-																															ggaagaggaagaggaagaggTaacgtggcagcgctgggtgg																										TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr20:36361471delT	ENST00000405275.2	+	3	381		c.e3+2		CTNNBL1_ENST00000361383.6_Splice_Site			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1						apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGGAAGAGGTAACGTGGCAG	0.483													16	15	---	---	---	---					-	36361471	T	-	36361471	8	5	441	1	0	1	0	1	0	0	1	0	4050	1652	57	0	227	0	CTNNBL1	20	36361471	Splice_Site	DEL	T	TCGA-IQ-A6SG-01A-12D-A34J-08	32786345	36361471	26664049	106	86553											
NPBWR2	2832	broad.mit.edu	37	chr20	62737418	62737418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaggacggtcaccttcCgcctggccttgcctagagcc	6	7	12	16	2	1	1	1	0	0	1	2	3	2	3	7	4	2	0	7	4	1	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr20:62737418C>T	ENST00000369768.1	-	1	1106	c.767G>A	c.(766-768)cGg>cAg	p.R256Q		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	256						plasma membrane	opioid receptor activity|protein binding	p.R256L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGTCACCTTCCGCCTGGCCTT	0.687													6	17					0	0	0	0	T	62737418	C	T	62737418	3	4	441	1	0	0	0	0	1	0	0	0	10639	652	23	1	237	1	NPBWR2	20	62737418	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	26375947	62737418	288102	107	86554											
TPTE	7179	broad.mit.edu	37	chr21	10934967	10934967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagactcgatagtggtttcGgtgtttcttatctagaaacc	9	15	10	7	2	2	2	0	0	2	2	4	3	2	2	1	2	1	3	1	2	5	6	rs148448130	byFrequency	TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr21:10934967G>C	ENST00000298232.7	-	14	1139	c.772C>G	c.(772-774)Cga>Gga	p.R258G	TPTE_ENST00000361285.4_Missense_Mutation_p.R276G|TPTE_ENST00000342420.5_Missense_Mutation_p.R238G|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	276	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R276R(1)|p.R258R(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)		TAGTGGTTTCGGTGTTTCTTA	0.358													25	267					0	0	0	0	C	10934967	G	C	10934967	3	2	441	1	0	0	0	0	1	0	0	0	16525	1124	39	3	869	3	TPTE	21	10934967	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		10934967	37194928	108	86555											
SFI1	9814	broad.mit.edu	37	chr22	32007791	32007791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaactgctggcacagagaCtcagccggacctgcttccgc	8	6	10	17	2	1	1	1	0	0	1	2	3	2	2	4	2	4	3	4	2	1	1			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr22:32007791C>A	ENST00000432498.1	+	23	2755	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	SFI1_ENST00000400288.2_Missense_Mutation_p.L819I|SFI1_ENST00000443326.1_Missense_Mutation_p.L737I|SFI1_ENST00000443011.1_Missense_Mutation_p.L666I|SFI1_ENST00000540643.1_Missense_Mutation_p.L764I|SFI1_ENST00000400289.1_Missense_Mutation_p.L737I|SFI1_ENST00000414585.1_Missense_Mutation_p.L666I	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	819					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGCACAGAGACTCAGCCGGAC	0.637													4	26					0.014758	0.014758	1	0	A	32007791	C	A	32007791	3	1	441	1	0	0	0	0	1	0	0	0	14243	565	20	4	2545	4	SFI1	22	32007791	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08		32007791	19296775	109	86556											
FRMPD4	9758	broad.mit.edu	37	chrX	12735636	12735636	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaggtgtagccatcttgcgGgcttatagtcctgagtcttc	6	13	12	10	1	2	1	0	1	2	0	4	1	3	1	2	2	2	3	2	2	3	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:12735636G>T	ENST00000380682.1	+	16	3197	c.2691G>T	c.(2689-2691)cgG>cgT	p.R897R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	897					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCATCTTGCGGGCTTATAGTC	0.438													30	102					9.17885e-22	1.15367e-21	1	0	T	12735636	G	T	12735636	2	4	441	1	0	0	0	0	0	0	0	1	6107	1219	43	4		4	FRMPD4	23	12735636	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08		12735636	142534924	110	86557											
CXorf22	170063	broad.mit.edu	37	chrX	35989810	35989810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagaggagctgtcttcagCagcaaattcaattagagcga	15	8	11	7	1	3	3	2	0	1	3	3	5	3	4	0	1	4	3	0	1	4	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:35989810C>T	ENST00000297866.5	+	12	2144	c.2078C>T	c.(2077-2079)gCa>gTa	p.A693V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	693										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTGTCTTCAGCAGCAAATTCA	0.433													5	33					0	0	0	0	T	35989810	C	T	35989810	3	4	441	1	0	0	0	0	1	0	0	0	4134	710	25	4	2124	4	CXorf22	23	35989810	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	23254174	35989810	119280750	111	86558											
DUSP21	63904	broad.mit.edu	37	chrX	44703764	44703764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaataccactccatgtcgcTgctggacgcccatacatgga	11	8	9	13	2	0	0	0	0	0	0	2	3	1	2	3	2	3	2	3	2	3	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:44703764T>C	ENST00000339042.4	+	1	516	c.386T>C	c.(385-387)cTg>cCg	p.L129P		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	129	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TCCATGTCGCTGCTGGACGCC	0.557													12	63					0	0	0	0	C	44703764	T	C	44703764	3	2	441	1	0	0	0	0	1	0	0	0	4856	1580	55	5	388	5	DUSP21	23	44703764	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	8713954	44703764	110566796	112	86559											
TAF1	6872	broad.mit.edu	37	chrX	70607209	70607209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agacagggttactatattcgGgaattagtggatatttttgt	11	16	11	3	1	0	1	0	0	0	1	1	3	0	3	0	3	1	1	0	3	6	8			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:70607209G>A	ENST00000449580.1	+	15	2373	c.2322G>A	c.(2320-2322)cgG>cgA	p.R774R	TAF1_ENST00000276072.3_Silent_p.R795R|TAF1_ENST00000423759.1_Silent_p.R795R|TAF1_ENST00000373790.4_Silent_p.R774R			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	774					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACTATATTCGGGAATTAGTGG	0.418													28	185					0	0	0	0	A	70607209	G	A	70607209	2	1	441	1	0	0	0	0	0	0	0	1	15604	1219	43	4		4	TAF1	23	70607209	Silent	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	25903445	70607209	84663351	113	86560											
ITM2A	9452	broad.mit.edu	37	chrX	78616623	78616623	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctcaacaataaattcgTtggggaagtgtctaatcttc	11	14	9	7	1	3	0	1	0	3	0	6	1	3	1	0	3	1	1	0	3	6	5			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:78616623T>G	ENST00000434584.2	-	5	959	c.623A>C	c.(622-624)aAc>aCc	p.N208T	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.N252T	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	252	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AATAAATTCGTTGGGGAAGTG	0.353													6	61					0	0	0	0	G	78616623	T	G	78616623	3	3	441	1	0	0	0	0	1	0	0	0	7965	1725	60	5	40	5	ITM2A	23	78616623	Missense_Mutation	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	8009414	78616623	76653937	114	86561											
PCDH11X	27328	broad.mit.edu	37	chrX	91133749	91133749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgtagtaagatgtcGccaggcaccacaccttaagg	11	8	10	12	1	0	1	0	0	0	1	1	1	0	1	3	2	1	4	3	2	3	3			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:91133749G>A	ENST00000373094.1	+	2	3355	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	PCDH11X_ENST00000373097.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R837H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R837H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R837H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R837H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	837					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTAAGATGTCGCCAGGCACCA	0.448													19	115					0	0	0	0	A	91133749	G	A	91133749	3	1	441	1	0	0	0	0	1	0	0	0	11579	1087	38	1	2516	1	PCDH11X	23	91133749	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	12517126	91133749	64136811	115	86562											
PCDH11X	27328	broad.mit.edu	37	chrX	91873878	91873878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgacaaccttcactcCacgccaacaggccagaccgt	10	8	6	17	2	1	2	1	1	0	1	3	2	3	2	6	1	2	0	6	1	2	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:91873878C>T	ENST00000373094.1	+	7	4828	c.3983C>T	c.(3982-3984)cCa>cTa	p.P1328L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1318L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1320L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1291L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1291L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1310L|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1328					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCTTCACTCCACGCCAACAG	0.413													79	82					0	0	0	0	T	91873878	C	T	91873878	3	4	441	1	0	0	0	0	1	0	0	0	11579	594	21	4	4131	4	PCDH11X	23	91873878	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	740129	91873878	63396682	116	86563											
COL4A6	1288	broad.mit.edu	37	chrX	107449790	107449790	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctacagctccaggaaaTccgggtgctccttgtgggcc	6	9	13	13	1	0	0	0	0	0	0	4	1	4	1	5	4	3	2	5	4	2	2			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:107449790T>A	ENST00000334504.7	-	9	800	c.567A>T	c.(565-567)ggA>ggT	p.G189G	COL4A6_ENST00000545689.1_Silent_p.G189G|COL4A6_ENST00000538570.1_Silent_p.G189G|COL4A6_ENST00000394872.2_Silent_p.G186G|COL4A6_ENST00000372216.4_Silent_p.G190G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	190	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTCCAGGAAATCCGGGTGCTC	0.438									Alport syndrome with Diffuse Leiomyomatosis				17	79					0	0	0	0	A	107449790	T	A	107449790	2	1	441	1	0	0	0	0	0	0	0	1	3725	1422	50	5		5	COL4A6	23	107449790	Silent	SNP	T	TCGA-IQ-A6SG-01A-12D-A34J-08	15575912	107449790	47820770	117	86564											
MAGEA10	4109	broad.mit.edu	37	chrX	151303172	151303172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatttcaggagactcatcttCctaatttcagcatgagccct	11	13	6	11	0	4	2	3	1	1	1	5	3	5	2	2	1	2	1	2	1	2	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:151303172C>A	ENST00000370323.4	-	4	1237	c.921G>T	c.(919-921)agG>agT	p.R307S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.R307S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	307	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCATCTTCCTAATTTCAG	0.498													32	191					9.65021e-13	1.11099e-12	1	0	A	151303172	C	A	151303172	3	1	441	1	0	0	0	0	1	0	0	0	9229	854	30	2	192	2	MAGEA10	23	151303172	Missense_Mutation	SNP	C	TCGA-IQ-A6SG-01A-12D-A34J-08	43853382	151303172	3967388	118	86565											
L1CAM	3897	broad.mit.edu	37	chrX	153130126	153130126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacactgtagttttcacccGctgtggctgagatgttgcca	7	12	11	11	2	1	1	1	1	0	1	1	3	1	1	2	1	1	5	2	1	1	4			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:153130126G>T	ENST00000370060.1	-	24	3269	c.3080C>A	c.(3079-3081)gCg>gAg	p.A1027E	L1CAM_ENST00000538883.1_Missense_Mutation_p.A1029E|L1CAM_ENST00000361981.3_Missense_Mutation_p.A1022E|L1CAM_ENST00000370055.1_Missense_Mutation_p.A1022E|L1CAM_ENST00000370057.3_Missense_Mutation_p.A1027E|L1CAM_ENST00000361699.4_Missense_Mutation_p.A1027E|L1CAM_ENST00000543994.1_Missense_Mutation_p.A1029E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1027	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					GTTTTCACCCGCTGTGGCTGA	0.567													33	142					1.22384e-17	1.48377e-17	1	0	T	153130126	G	T	153130126	3	4	441	1	0	0	0	0	1	0	0	0	8641	1087	38	3	717	3	L1CAM	23	153130126	Missense_Mutation	SNP	G	TCGA-IQ-A6SG-01A-12D-A34J-08	1826954	153130126	2140434	119	86566											
CDK11B	984	broad.mit.edu	37	chr1	1572077	1572077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgatcgatttctgaCttcccggggaacagaggctt	8	13	11	9	2	2	4	0	3	2	1	4	6	3	5	1	3	1	1	1	3	1	4	rs1059815	by1000genomes	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:1572077C>A	ENST00000407249.3	-	18	1892	c.1893G>T	c.(1891-1893)aaG>aaT	p.K631N	CDK11B_ENST00000341832.6_Missense_Mutation_p.K584N|CDK11B_ENST00000317673.7_Missense_Mutation_p.K629N|CDK11B_ENST00000340677.5_Missense_Mutation_p.K618N			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	641	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CGATTTCTGACTTCCCGGGGA	0.587													18	50					2.37509e-13	2.54474e-13	1	0	A	1572077	C	A	1572077	3	1	442	1	0	0	0	0	1	0	0	0	3156	564	20	4	480	4	CDK11B	1	1572077	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		1572077	247678544	1	86567											
MACF1	23499	broad.mit.edu	37	chr1	39797211	39797211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagacagttggactgaaaAtcttagaagctcacctggca	13	9	11	8	0	2	3	1	2	1	2	2	5	2	4	1	2	1	3	1	2	4	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:39797211A>G	ENST00000564288.1	+	37	5728	c.4951A>G	c.(4951-4953)Atc>Gtc	p.I1651V	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.I1688V|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.I1656V|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.I91V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1656					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGACTGAAAATCTTAGAAGC	0.458													34	121					0	0	0	0	G	39797211	A	G	39797211	3	3	442	1	0	0	0	0	1	0	0	0	9209	101	4	5	5042	5	MACF1	1	39797211	Missense_Mutation	SNP	A	TCGA-IQ-A6SH-01A-12D-A34J-08	38225134	39797211	209453410	2	86568											
C8A	731	broad.mit.edu	37	chr1	57333292	57333292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttaggagagtaagaCgggcagctacacccgcagca	11	8	11	11	2	1	2	0	0	1	2	1	3	1	2	1	2	3	5	1	2	3	5			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:57333292C>T	ENST00000361249.3	+	2	184	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	30					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGAGTAAGACGGGCAGCTAC	0.453													4	100					0	0	0	0	T	57333292	C	T	57333292	3	4	442	1	0	0	0	0	1	0	0	0	2439	527	19	1	94	1	C8A	1	57333292	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	17536081	57333292	191917329	3	86569											
COL11A1	1301	broad.mit.edu	37	chr1	103471441	103471441	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggaagtccatcaaaccctcGatctccctgtaaaaccatca	13	8	5	15	2	3	0	2	0	1	0	6	2	4	1	4	1	2	1	4	1	4	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:103471441G>C	ENST00000358392.2	-	18	2151	c.1834C>G	c.(1834-1836)Cga>Gga	p.R612G	COL11A1_ENST00000512756.1_Missense_Mutation_p.R484G|COL11A1_ENST00000370096.3_Missense_Mutation_p.R600G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R561G|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	600	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCAAACCCTCGATCTCCCTGT	0.373													33	120					0	0	0	0	C	103471441	G	C	103471441	3	2	442	1	0	0	0	0	1	0	0	0	3697	1066	37	3	3822	3	COL11A1	1	103471441	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	46138149	103471441	145779180	4	86570											
SYCP1	6847	broad.mit.edu	37	chr1	115398159	115398159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgtctgcggtgaaacCtcagaccctgggaggcgatt	8	9	14	10	2	3	2	2	1	1	1	3	4	3	3	2	4	2	0	2	4	1	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:115398159C>T	ENST00000369522.3	+	2	314	c.74C>T	c.(73-75)cCt>cTt	p.P25L	SYCP1_ENST00000369518.1_Missense_Mutation_p.P25L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	25	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGTGAAACCTCAGACCCTG	0.418													12	21					0	0	0	0	T	115398159	C	T	115398159	3	4	442	1	0	0	0	0	1	0	0	0	15522	681	24	4	76	4	SYCP1	1	115398159	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	11926718	115398159	133852462	5	86571											
TMOD4	29765	broad.mit.edu	37	chr1	151146953	151146953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactgcaaaagggcctctCggtccagtggccccgttggg	7	8	14	12	2	1	0	0	0	1	0	3	0	2	0	4	4	2	3	4	4	3	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:151146953C>A	ENST00000416280.2	-	3	293	c.194G>T	c.(193-195)cGa>cTa	p.R65L				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	117					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	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)			AAGGGCCTCTCGGTCCAGTGG	0.547													58	221					5.82089e-37	6.49438e-37	1	0	A	151146953	C	A	151146953	3	1	442	1	0	0	0	0	1	0	0	0	16330	884	31	3	875	3	TMOD4	1	151146953	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	35748794	151146953	98103668	6	86572											
SSR2	6746	broad.mit.edu	37	chr1	155989934	155989934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgacagcaaatagagccaAcaccacaaatgacagcagcc	18	3	8	12	0	0	3	0	2	0	1	0	3	0	3	3	0	5	2	3	0	4	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:155989934A>G	ENST00000295702.4	-	2	96	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	SSR2_ENST00000480567.1_Silent_p.L9L|SSR2_ENST00000529008.1_Silent_p.L9L|SSR2_ENST00000496742.1_Silent_p.L9L	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	9					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATAGAGCCAACACCACAAAT	0.478													24	39					0	0	0	0	G	155989934	A	G	155989934	2	3	442	1	0	0	0	0	0	0	0	1	15281	40	2	5		5	SSR2	1	155989934	Silent	SNP	A	TCGA-IQ-A6SH-01A-12D-A34J-08	4842981	155989934	93260687	7	86573											
C1orf106	55765	broad.mit.edu	37	chr1	200869306	200869306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaaggttcgccgcaggatCggagcggcttacaaactgga	10	6	13	12	4	0	0	0	0	0	0	2	3	0	3	2	5	3	3	2	5	3	2	rs34596202	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:200869306C>T	ENST00000367342.4	+	4	710	c.510C>T	c.(508-510)atC>atT	p.I170I	C1orf106_ENST00000413687.2_Silent_p.I85I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	170										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCAGGATCGGAGCGGCTT	0.607													18	47					0	0	0	0	T	200869306	C	T	200869306	2	4	442	1	0	0	0	0	0	0	0	1	1999	874	31	1		1	C1orf106	1	200869306	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	44879372	200869306	48381315	8	86574											
TMEM183A	92703	broad.mit.edu	37	chr1	202977833	202977833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctctttctggggctGgtgagccctgtgacatcatc	7	11	13	10	0	3	2	1	2	2	0	4	3	3	3	1	4	2	2	1	4	1	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:202977833G>A	ENST00000367242.3	+	3	342	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			TTCTGGGGCTGGTGAGCCCTG	0.473													9	96					0	0	0	0	A	202977833	G	A	202977833	3	1	442	1	0	0	0	0	1	0	0	0	16196	1348	47	4	272	4	TMEM183A	1	202977833	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	2108527	202977833	46272788	9	86575											
IKBKE	9641	broad.mit.edu	37	chr1	206646649	206646649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagtgtgtacaaggccCgcaacaaggtaggaagcaac	13	5	12	11	1	0	0	0	0	0	0	0	1	0	1	2	3	5	4	2	3	7	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:206646649C>T	ENST00000367120.3	+	3	452	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	27	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GTACAAGGCCCGCAACAAGGT	0.637													5	15					0	0	0	0	T	206646649	C	T	206646649	3	4	442	1	0	0	0	0	1	0	0	0	7665	652	23	1	81	1	IKBKE	1	206646649	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	3668816	206646649	42603972	10	86576											
TRIM11	81559	broad.mit.edu	37	chr1	228584661	228584661	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctacctcgaaacctccgCagtgtctctaccagtcccgg	8	8	7	18	3	1	0	0	0	1	0	5	1	3	0	6	1	3	1	6	1	3	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:228584661C>T	ENST00000493030.2	-	4	4180	c.471G>A	c.(469-471)ctG>ctA	p.L157L	TRIM11_ENST00000366699.3_Silent_p.L282L|TRIM11_ENST00000284551.6_Silent_p.L282L|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	282					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GAAACCTCCGCAGTGTCTCTA	0.632													4	94					0	0	0	0	T	228584661	C	T	228584661	2	4	442	1	0	0	0	0	0	0	0	1	16582	697	25	4		4	TRIM11	1	228584661	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	21938012	228584661	20665960	11	86577											
RYR2	6262	broad.mit.edu	37	chr1	237865278	237865278	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattctctttttccttagTggaagatgtccaggtgtctt	7	17	10	7	0	2	2	0	0	2	2	5	4	4	3	2	2	0	0	2	2	2	5			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:237865278T>C	ENST00000366574.2	+	66	9685	c.9367_splice	c.e66-1	p.L3123_splice	RYR2_ENST00000360064.6_Splice_Site_p.L3121_splice|RYR2_ENST00000542537.1_Splice_Site_p.L3107_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3123					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTCCTTAGTGGAAGATGTC	0.348													7	27					0	0	0	0	C	237865278	T	C	237865278	5	2	442	1	0	0	0	0	0	0	1	0	13854	1710	59	5	9630	5	RYR2	1	237865278	Splice_Site	SNP	T	TCGA-IQ-A6SH-01A-12D-A34J-08	9280617	237865278	11385343	12	86578											
OR2T4	127074	broad.mit.edu	37	chr1	248525491	248525491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttccccttccgtggatcCcgggagattcatcatttctt	6	14	7	14	2	3	1	2	0	1	1	6	3	6	2	5	2	0	0	5	2	0	5			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:248525491C>T	ENST00000366475.1	+	1	609	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCGTGGATCCCGGGAGATTC	0.498													86	190					0	0	0	0	T	248525491	C	T	248525491	2	4	442	1	0	0	0	0	0	0	0	1	11098	610	22	4		4	OR2T4	1	248525491	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	10660213	248525491	725130	13	86579											
FAM98A	25940	broad.mit.edu	37	chr2	33810288	33810288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcctcttcctccccctCggccaccatggtcatagcca	6	12	5	18	1	2	0	1	0	1	0	6	0	5	0	7	2	1	0	7	2	2	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:33810288C>A	ENST00000238823.8	-	8	1252	c.1112G>T	c.(1111-1113)cGa>cTa	p.R371L	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.R176L			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	372	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TCCTCCCCCTCGGCCACCATG	0.562													38	95					1.57019e-19	1.72338e-19	1	0	A	33810288	C	A	33810288	3	1	442	1	0	0	0	0	1	0	0	0	5701	884	31	3	448	3	FAM98A	2	33810288	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		33810288	209389085	14	86580											
SLC8A1	6546	broad.mit.edu	37	chr2	40656194	40656194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcccttgttcaaagaaGatcttactaacagggtcatt	12	14	7	8	0	3	2	2	0	1	2	4	2	4	2	1	1	2	1	1	1	5	6			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:40656194G>T	ENST00000406785.1	-	2	1416	c.1227C>A	c.(1225-1227)atC>atA	p.I409I	SLC8A1_ENST00000406391.2_Silent_p.I409I|SLC8A1_ENST00000405269.1_Silent_p.I409I|SLC8A1_ENST00000405901.3_Silent_p.I409I|SLC8A1_ENST00000402441.1_Silent_p.I409I|SLC8A1_ENST00000332839.4_Silent_p.I409I|SLC8A1_ENST00000403092.1_Silent_p.I409I|SLC8A1_ENST00000408028.2_Silent_p.I409I|SLC8A1_ENST00000542024.1_Silent_p.I409I|SLC8A1_ENST00000542756.1_Silent_p.I409I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	409	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	GTTCAAAGAAGATCTTACTAA	0.458													24	192					1.42536e-11	1.51514e-11	1	0	T	40656194	G	T	40656194	2	4	442	1	0	0	0	0	0	0	0	1	14794	932	33	2		2	SLC8A1	2	40656194	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	6845906	40656194	202543179	15	86581											
CTNNA2	1496	broad.mit.edu	37	chr2	80085145	80085145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtcttccaggtgagaCgatgcggatcgcctcctccg	5	11	12	13	4	2	1	0	1	2	1	6	4	5	2	4	2	1	0	4	2	0	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:80085145C>T	ENST00000466387.1	+	8	1029	c.305C>T	c.(304-306)aCg>aTg	p.T102M	CTNNA2_ENST00000540488.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T136M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.T102M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	102					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAGGTGAGACGATGCGGATC	0.547													68	120					0	0	0	0	T	80085145	C	T	80085145	3	4	442	1	0	0	0	0	1	0	0	0	4045	536	19	1	315	1	CTNNA2	2	80085145	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	39428951	80085145	163114228	16	86582											
MGAT5	4249	broad.mit.edu	37	chr2	135095943	135095943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgcatggatccaagcaatCaagtccctggcagaaaagca	15	5	10	11	1	1	1	1	0	0	1	3	3	3	2	2	2	2	4	2	2	5	0			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:135095943C>G	ENST00000409645.1	+	7	1011	c.759C>G	c.(757-759)atC>atG	p.I253M	MGAT5_ENST00000281923.2_Missense_Mutation_p.I253M			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	253					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCCAAGCAATCAAGTCCCTGG	0.403													28	102					0	0	0	0	G	135095943	C	G	135095943	3	3	442	1	0	0	0	0	1	0	0	0	9617	816	29	2	781	2	MGAT5	2	135095943	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	55010798	135095943	108103430	17	86583											
ABCB11	8647	broad.mit.edu	37	chr2	169801270	169801270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccagatttagcaaaggCatatccctaaaacatgaaga	16	8	6	11	0	0	3	0	1	0	2	2	3	2	3	3	1	2	2	3	1	6	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:169801270C>T	ENST00000263817.6	-	21	2579	c.2455G>A	c.(2455-2457)Gcc>Acc	p.A819T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	819	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTAGCAAAGGCATATCCCTAA	0.363													5	72					0	0	0	0	T	169801270	C	T	169801270	3	4	442	1	0	0	0	0	1	0	0	0	42	710	25	4	1542	4	ABCB11	2	169801270	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	34705327	169801270	73398103	18	86584											
TTN	7273	broad.mit.edu	37	chr2	179542480	179542480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggaatttcctcttcttCaggtagaacttcctcttctt	7	17	7	10	0	5	1	1	0	4	1	7	2	7	2	2	3	1	1	2	3	3	7			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:179542480C>T	ENST00000589042.1	-	146	34383	c.34159G>A	c.(34159-34161)Gaa>Aaa	p.E11387K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11070K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10143K|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11070	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTTCTTCAGGTAGAACT	0.433													26	190					0	0	0	0	T	179542480	C	T	179542480	3	4	442	1	0	0	0	0	1	0	0	0	16831	835	29	2	70238	2	TTN	2	179542480	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	9741210	179542480	63656893	19	86585											
ZNF804A	91752	broad.mit.edu	37	chr2	185802016	185802016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttacactgaaaatgctggGaaatatctattggaaccaat	16	11	8	6	0	1	1	0	1	1	0	1	3	1	3	1	2	3	2	1	2	8	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:185802016G>A	ENST00000302277.6	+	4	2487	c.1893G>A	c.(1891-1893)ggG>ggA	p.G631G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	631						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAATGCTGGGAAATATCTAT	0.353													99	158					0	0	0	0	A	185802016	G	A	185802016	2	1	442	1	0	0	0	0	0	0	0	1	18263	1161	41	2		2	ZNF804A	2	185802016	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	6259536	185802016	57397357	20	86586											
SATB2	23314	broad.mit.edu	37	chr2	200137015	200137015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccactttgtacatctcctcGgagccttcctcgctgtcgtt	4	15	7	15	3	1	0	0	0	1	0	7	1	3	1	4	1	2	3	4	1	1	4	rs141424911	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:200137015G>A	ENST00000443023.1	-	10	3409	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	SATB2_ENST00000417098.1_Silent_p.S707S|SATB2_ENST00000428695.1_Silent_p.S589S|SATB2_ENST00000260926.5_Silent_p.S707S|SATB2_ENST00000457245.1_Silent_p.S707S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	707						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACATCTCCTCGGAGCCTTCCT	0.537													56	97					0	0	0	0	A	200137015	G	A	200137015	2	1	442	1	0	0	0	0	0	0	0	1	13940	1103	39	1		1	SATB2	2	200137015	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	14334999	200137015	43062358	21	86587											
ZBTB11	27107	broad.mit.edu	37	chr3	101395454	101395454	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctaggtctcacctcgcCaccagtacgtcttggacaag	8	8	11	14	3	2	0	1	0	2	0	4	1	2	1	3	3	1	2	3	3	3	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:101395454C>T	ENST00000312938.4	-	1	885	c.305G>A	c.(304-306)tGg>tAg	p.W102*	ZBTB11-AS1_ENST00000536865.1_5'UTR|ZBTB11_ENST00000461821.1_Nonsense_Mutation_p.W102*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCACCTCGCCACCAGTACGT	0.697													9	12					0	0	0	0	T	101395454	C	T	101395454	4	4	442	1	0	0	0	0	0	1	0	0	17619	595	21	4	2900	4	ZBTB11	3	101395454	Nonsense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		101395454	96626976	22	86588											
ZPLD1	131368	broad.mit.edu	37	chr3	102183053	102183053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattgctatactaccccatCaggaaacccaaatgatgaca	15	10	5	11	0	1	2	1	2	0	0	1	3	1	3	3	1	4	1	3	1	6	5			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:102183053C>T	ENST00000306176.1	+	7	867	c.767C>T	c.(766-768)tCa>tTa	p.S256L	ZPLD1_ENST00000491959.1_Missense_Mutation_p.S240L|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S240L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	240	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTACCCCATCAGGAAACCCA	0.323													47	117					0	0	0	0	T	102183053	C	T	102183053	3	4	442	1	0	0	0	0	1	0	0	0	18314	838	29	2	793	2	ZPLD1	3	102183053	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	787599	102183053	95839377	23	86589											
C3orf55	152078	broad.mit.edu	37	chr3	157289047	157289047	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gattgctggataggtggagaCctgacaaatttcaaaggctg	12	10	13	6	0	1	2	1	1	0	1	1	5	1	3	1	4	1	2	1	4	3	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:157289047C>T	ENST00000449199.2	+	3	306	c.165C>T	c.(163-165)gaC>gaT	p.D55D	C3orf55_ENST00000459838.1_Silent_p.D55D|C3orf55_ENST00000426338.2_Silent_p.D55D|C3orf55_ENST00000312275.5_Silent_p.D55D|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	chromosome 3 open reading frame 55	55										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			TAGGTGGAGACCTGACAAATT	0.428													8	39					0	0	0	0	T	157289047	C	T	157289047	2	4	442	1	0	0	0	0	0	0	0	1	2254	506	18	4		4	C3orf55	3	157289047	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	55105994	157289047	40733383	24	86590											
PDCD10	11235	broad.mit.edu	37	chr3	167422683	167422683	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagatttactcgttctaGctgcaataaaaattttaaat	16	14	5	6	1	1	2	0	0	1	2	2	2	1	2	0	0	3	3	0	0	8	7			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:167422683G>C	ENST00000392750.2	-	4	514	c.96_splice	c.e4-1	p.L33_splice	PDCD10_ENST00000470131.1_Splice_Site_p.L33_splice|PDCD10_ENST00000473645.2_Splice_Site_p.L33_splice|PDCD10_ENST00000497056.2_Splice_Site_p.L33_splice|PDCD10_ENST00000487947.2_Splice_Site_p.L33_splice|PDCD10_ENST00000461494.1_Splice_Site_p.L33_splice|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000471885.1_Splice_Site_p.L33_splice	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	33					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACTCGTTCTAGCTGCaataaa	0.333													13	62					0	0	0	0	C	167422683	G	C	167422683	5	2	442	1	0	0	0	0	0	0	1	0	11687	985	34	4	565	4	PDCD10	3	167422683	Splice_Site	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	10133636	167422683	30599747	25	86591											
MAP3K13	9175	broad.mit.edu	37	chr3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagccatagtgactttgccGcaatcttgaaaaaccagcca	13	8	8	12	1	1	2	0	2	1	0	1	2	1	2	4	0	4	2	4	0	4	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	604					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507													6	618					0	0	0	0	A	185190929	G	A	185190929	3	1	442	1	0	0	0	0	1	0	0	0	9316	1087	38	1	1848	1	MAP3K13	3	185190929	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	17768246	185190929	12831501	26	86592											
MUC4	4585	broad.mit.edu	37	chr3	195511638	195511638	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctggtgacaggaagagaGgtggcgtgacctgtggacac	10	6	18	7	1	0	3	0	2	0	1	0	6	0	5	1	6	0	1	1	6	1	0	rs71634713		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:195511638G>C	ENST00000463781.3	-	2	7272	c.6813C>G	c.(6811-6813)acC>acG	p.T2271T	MUC4_ENST00000475231.1_Silent_p.T2271T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	40					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGAGGTGGCGTGAC	0.592													4	5					0	0	0	0	C	195511638	G	C	195511638	2	2	442	1	0	0	0	0	0	0	0	1	10048	987	35	4		4	MUC4	3	195511638	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	10320709	195511638	2510792	27	86593											
PROM1	8842	broad.mit.edu	37	chr4	15995643	15995643	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgttcactgatattgaaGctgttctgcaggtgaagagt	11	13	12	5	0	2	5	1	3	1	2	2	5	2	5	0	1	2	4	0	1	3	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:15995643G>A	ENST00000505450.1	-	15	2319	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	PROM1_ENST00000510224.1_Silent_p.S578S|PROM1_ENST00000543373.1_Silent_p.S569S|PROM1_ENST00000539194.1_Silent_p.S578S|PROM1_ENST00000508167.1_Silent_p.S569S|PROM1_ENST00000447510.2_Silent_p.S578S|PROM1_ENST00000540805.1_Silent_p.S578S	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	578					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGATATTGAAGCTGTTCTGCA	0.398													4	121					0	0	0	0	A	15995643	G	A	15995643	2	1	442	1	0	0	0	0	0	0	0	1	12635	962	34	4		4	PROM1	4	15995643	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08		15995643	175158633	28	86594											
ATP8A1	10396	broad.mit.edu	37	chr4	42580325	42580325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaacttctaatgtaacCaataagctgataggaatgag	16	11	7	7	0	2	2	1	2	1	0	2	3	2	3	1	1	3	2	1	1	7	6			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:42580325C>T	ENST00000381668.5	-	12	1311	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L	ATP8A1_ENST00000264449.10_Silent_p.L360L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	360					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.L360F(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTAATGTAACCAATAAGCTGA	0.358													18	80					0	0	0	0	T	42580325	C	T	42580325	2	4	442	1	0	0	0	0	0	0	0	1	1196	593	21	4		4	ATP8A1	4	42580325	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	26584682	42580325	148573951	29	86595											
NFXL1	152518	broad.mit.edu	37	chr4	47853937	47853937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaaacctgattttcaCgtactttgttgcactgcaat	10	16	6	9	1	1	2	1	2	0	0	1	2	1	2	1	0	4	4	1	0	4	7			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:47853937C>T	ENST00000507489.1	-	21	2620	c.2444G>A	c.(2443-2445)cGt>cAt	p.R815H	NFXL1_ENST00000381538.3_Missense_Mutation_p.R815H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	815						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R815H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTGATTTTCACGTACTTTGTT	0.358													11	120					0	0	0	0	T	47853937	C	T	47853937	3	4	442	1	0	0	0	0	1	0	0	0	10458	536	19	1	303	1	NFXL1	4	47853937	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	5273612	47853937	143300339	30	86596											
UGT2A3	79799	broad.mit.edu	37	chr4	69795744	69795744	+	Silent	SNP	T	T	C																															aactcgatccagaagactgcTcgatctaggggctttacagg																								rs112675774		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:69795744T>C	ENST00000251566.4	-	6	1401	c.1371A>G	c.(1369-1371)cgA>cgG	p.R457R	UGT2A3_ENST00000420231.2_Silent_p.R168R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	457						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAGACTGCTCGATCTAGGG	0.453													6	217					0	0	0	0	C	69795744	T	C	69795744	2	2	442	1	0	0	0	0	0	0	0	1	17051	1538	54	5		5	UGT2A3	4	69795744	Silent	SNP	T	TCGA-IQ-A6SH-01A-12D-A34J-08	21941807	69795744	121358532	31	86597	1082	2									
UGT2A3	79799	broad.mit.edu	37	chr4	69795745	69795745	+	Missense_Mutation	SNP	C	C	T																															actcgatccagaagactgctCgatctaggggctttacaggt																										TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:69795745C>T	ENST00000251566.4	-	6	1400	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A3_ENST00000420231.2_Missense_Mutation_p.R168Q	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	457						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAAGACTGCTCGATCTAGGGG	0.448													6	218					0	0	0	0	T	69795745	C	T	69795745	3	4	442	1	0	0	0	0	1	0	0	0	17051	884	31	1	217	1	UGT2A3	4	69795745	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	1	69795745	121358531	32	86598	1082	2									
GPRIN3	285513	broad.mit.edu	37	chr4	90168949	90168949	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatctaacacagaagaCggggcaggacggacgcagca	14	5	12	10	3	2	2	1	0	1	2	2	4	2	4	0	4	2	3	0	4	3	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:90168949C>A	ENST00000333209.3	-	2	2831	c.2313G>T	c.(2311-2313)ccG>ccT	p.P771P		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	771										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACACAGAAGACGGGGCAGGAC	0.453													6	134					0.000157383	0.000162189	1	0	A	90168949	C	A	90168949	2	1	442	1	0	0	0	0	0	0	0	1	6781	523	19	3		3	GPRIN3	4	90168949	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	20373204	90168949	100985327	33	86599											
SETD7	80854	broad.mit.edu	37	chr4	140454503	140454503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgcaaggcatcatccacaTaatacccctccagggtgctg	10	8	8	15	0	1	0	1	0	0	0	3	0	3	0	5	2	3	3	5	2	3	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:140454503T>C	ENST00000274031.3	-	3	824	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	SETD7_ENST00000506866.2_Missense_Mutation_p.Y63C|SETD7_ENST00000404104.3_Missense_Mutation_p.Y63C|SETD7_ENST00000406354.1_Missense_Mutation_p.M46V	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	63					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATCATCCACATAATACCCCTC	0.498													29	20					0	0	0	0	C	140454503	T	C	140454503	3	2	442	1	0	0	0	0	1	0	0	0	14223	1406	49	5	936	5	SETD7	4	140454503	Missense_Mutation	SNP	T	TCGA-IQ-A6SH-01A-12D-A34J-08	50285554	140454503	50699773	34	86600											
IRX2	153572	broad.mit.edu	37	chr5	2749007	2749018	+	In_Frame_Del	DEL	TCCTCGTCGTCG	TCCTCGTCGTCG	-																															gcgccaggccccgctcgcccTcctcgtcgtcgtcctcgtcg																								rs111614286		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:2749007_2749018delTCCTCGTCGTCG	ENST00000382611.6	-	3	1052_1063	c.804_815delCGACGACGAGGA	c.(802-816)gag>ga	p.DDDEE268del	IRX2_ENST00000302057.5_In_Frame_Del_p.DDDEE268del|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		CCGCTCGCCCTCCTCGTCGTCGTCCTCGTCGT	0.736													13	106	---	---	---	---					-	2749018	TCCTCGTCGTCG	-	2749007	7	5	442	1	0	1	0	1	0	0	0	0	7897	1551	54	0	608	0	IRX2	5	2749007	In_Frame_Del	DEL	TCCTCGTCGTCG	TCGA-IQ-A6SH-01A-12D-A34J-08		2749007	178166253	35	86601											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	5	10	13	13	0	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2	rs139769264		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483													4	148					0	0	0	0	T	32407029	A	T	32407029	2	4	442	1	0	0	0	0	0	0	0	1	17754	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-IQ-A6SH-01A-12D-A34J-08	29658022	32407029	148508231	36	86602											
PCDHA7	56141	broad.mit.edu	37	chr5	140216232	140216232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattctcccagcagaggcGgcagagggtgtgctctgggg	6	8	17	10	1	3	2	1	0	2	2	4	2	3	2	1	5	2	3	1	5	0	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:140216232G>A	ENST00000525929.1	+	1	2264	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R755Q|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1												p.R755Q(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.617													22	47					0	0	0	0	A	140216232	G	A	140216232	3	1	442	1	0	0	0	0	1	0	0	0	11600	1116	39	1	2266	1	PCDHA7	5	140216232	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	107809203	140216232	40699028	37	86603											
ZNF391	346157	broad.mit.edu	37	chr6	27369064	27369064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggagaaaagcctcaCgagtgtagagtgtgtggaaa	14	7	14	6	1	1	2	1	0	0	2	1	5	1	3	1	2	1	1	1	2	4	1	rs141811950	by1000genomes	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:27369064C>T	ENST00000244576.4	+	3	1460	c.915C>T	c.(913-915)caC>caT	p.H305H		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAAAGCCTCACGAGTGTAGAG	0.478													20	57					0	0	0	0	T	27369064	C	T	27369064	2	4	442	1	0	0	0	0	0	0	0	1	17974	535	19	1		1	ZNF391	6	27369064	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		27369064	143746003	38	86604											
DAAM2	23500	broad.mit.edu	37	chr6	39859410	39859410	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggttcaccttgtctacagGattgaccactaccagcagcg	10	10	9	12	1	2	1	1	1	1	0	2	2	2	2	3	2	4	2	3	2	2	5			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:39859410G>A	ENST00000538976.1	+	19	2435	c.2252_splice	c.e19-1	p.R751_splice	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000398904.2_Splice_Site_p.R751_splice|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Splice_Site_p.R751_splice	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	751	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTGTCTACAGGATTGACCACT	0.577													6	18					0	0	0	0	A	39859410	G	A	39859410	5	1	442	1	0	0	0	0	0	0	1	0	4249	1188	41	2	2323	2	DAAM2	6	39859410	Splice_Site	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	12490346	39859410	131255657	39	86605											
EYA4	2070	broad.mit.edu	37	chr6	133769265	133769265	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggggaaaacatgactgtTttaaacacagcagactggtt	14	10	10	7	0	1	2	1	1	0	1	1	3	1	3	0	3	3	3	0	3	4	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:133769265T>C	ENST00000367895.5	+	5	689	c.225T>C	c.(223-225)gtT>gtC	p.V75V	EYA4_ENST00000431403.2_Silent_p.V75V|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000531901.1_Silent_p.V75V|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000355167.3_Silent_p.V75V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	75					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACATGACTGTTTTAAACACAG	0.438													19	63					0	0	0	0	C	133769265	T	C	133769265	2	2	442	1	0	0	0	0	0	0	0	1	5369	1828	64	5		5	EYA4	6	133769265	Silent	SNP	T	TCGA-IQ-A6SH-01A-12D-A34J-08	93909855	133769265	37345802	40	86606											
HOXA5	3202	broad.mit.edu	37	chr7	27181546	27181546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccggttttggaaccagaTtttaatttgtctctcggaga	8	16	9	8	2	2	2	0	0	2	2	5	4	2	3	2	3	1	1	2	3	2	5			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:27181546T>C	ENST00000222726.3	-	2	781	c.721A>G	c.(721-723)Atc>Gtc	p.I241V	HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	241					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TGGAACCAGATTTTAATTTGT	0.493											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	176					0	0	0	0	C	27181546	T	C	27181546	3	2	442	1	0	0	0	0	1	0	0	0	7345	1493	52	5	95	5	HOXA5	7	27181546	Missense_Mutation	SNP	T	TCGA-IQ-A6SH-01A-12D-A34J-08		27181546	131957117	41	86607											
PDE1C	5137	broad.mit.edu	37	chr7	31918738	31918738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtctcggacctcagaaGgcacagcatctgactgaatg	11	7	11	12	1	3	3	1	2	2	1	4	4	3	4	2	2	1	2	2	2	2	0			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:31918738G>A	ENST00000396184.3	-	5	500	c.296C>T	c.(295-297)cCt>cTt	p.P99L	PDE1C_ENST00000396191.1_Missense_Mutation_p.P99L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P99L|PDE1C_ENST00000396182.2_Missense_Mutation_p.P99L|PDE1C_ENST00000396193.1_Missense_Mutation_p.P159L	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	99					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GACCTCAGAAGGCACAGCATC	0.527													17	87					0	0	0	0	A	31918738	G	A	31918738	3	1	442	1	0	0	0	0	1	0	0	0	11706	1000	35	4	1664	4	PDE1C	7	31918738	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	4737192	31918738	127219925	42	86608											
ABCA13	154664	broad.mit.edu	37	chr7	48391978	48391978	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actacgtctttgccccactgCaagacatgatcgaaagagcc	12	8	8	13	2	1	3	0	1	1	2	2	4	1	3	3	0	4	1	3	0	3	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:48391978C>T	ENST00000435803.1	+	31	10606	c.10582C>T	c.(10582-10584)Caa>Taa	p.Q3528*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3528					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCCCCACTGCAAGACATGAT	0.522													13	47					0	0	0	0	T	48391978	C	T	48391978	4	4	442	1	0	0	0	0	0	1	0	0	31	711	25	4	10533	4	ABCA13	7	48391978	Nonsense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	16473240	48391978	110746685	43	86609											
POM121L12	285877	broad.mit.edu	37	chr7	53103481	53103481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaggtcacccagcacGccccagaccacgccatctcc	10	4	8	19	2	2	2	1	1	1	1	3	2	2	2	6	1	2	2	6	1	0	0			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:53103481G>A	ENST00000408890.4	+	1	133	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	39										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACCCAGCACGCCCCAGACCA	0.687													15	55					0	0	0	0	A	53103481	G	A	53103481	2	1	442	1	0	0	0	0	0	0	0	1	12313	1074	38	1		1	POM121L12	7	53103481	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	4711503	53103481	106035182	44	86610											
POM121L12	285877	broad.mit.edu	37	chr7	53104173	53104173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgggacttctgggaggCgacaacgccttcctgcggca	7	8	13	13	3	2	0	0	0	2	0	3	3	3	2	2	4	2	1	2	4	1	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:53104173C>T	ENST00000408890.4	+	1	825	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	270								p.A270V(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCTGGGAGGCGACAACGCCT	0.632													29	79					0	0	0	0	T	53104173	C	T	53104173	3	4	442	1	0	0	0	0	1	0	0	0	12313	768	27	1	811	1	POM121L12	7	53104173	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	692	53104173	106034490	45	86611											
PCLO	27445	broad.mit.edu	37	chr7	82581207	82581207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtcagatctactgctGtgtcagttccttcagaataa	11	13	8	9	0	4	3	3	1	1	2	5	3	5	3	1	0	2	2	1	0	4	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:82581207G>A	ENST00000423517.2	-	5	9399	c.9062C>T	c.(9061-9063)aCa>aTa	p.T3021I	PCLO_ENST00000333891.8_Missense_Mutation_p.T3021I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2952					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTACTGCTGTGTCAGTTCC	0.398													27	68					0	0	0	0	A	82581207	G	A	82581207	3	1	442	1	0	0	0	0	1	0	0	0	11654	1377	48	4	6467	4	PCLO	7	82581207	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	29477034	82581207	76557456	46	86612											
PDK4	5166	broad.mit.edu	37	chr7	95221315	95221315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaccattcacttgtgtaaGctttaattctggagatgata	11	16	7	7	0	2	2	1	1	1	1	2	3	2	2	1	1	2	2	1	1	4	8			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:95221315G>A	ENST00000005178.5	-	6	876	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	227	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACTTGTGTAAGCTTTAATTCT	0.289													9	171					0	0	0	0	A	95221315	G	A	95221315	3	1	442	1	0	0	0	0	1	0	0	0	11749	971	34	4	580	4	PDK4	7	95221315	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	12640108	95221315	63917348	47	86613											
MOSPD3	64598	broad.mit.edu	37	chr7	100211107	100211107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttgggaccagtgtgattCgccatgtggcacccattccc	7	10	10	14	1	0	1	0	1	0	0	2	2	1	2	5	2	0	1	5	2	0	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:100211107C>T	ENST00000393950.2	+	3	571	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	MOSPD3_ENST00000379527.2_Missense_Mutation_p.R97C|MOSPD3_ENST00000424091.2_Intron|MOSPD3_ENST00000223054.4_Missense_Mutation_p.R97C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	97	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGTGTGATTCGCCATGTGGC	0.582													12	58					0	0	0	0	T	100211107	C	T	100211107	3	4	442	1	0	0	0	0	1	0	0	0	9787	884	31	1	299	1	MOSPD3	7	100211107	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	4989792	100211107	58927556	48	86614											
PLXNA4	91584	broad.mit.edu	37	chr7	132192882	132192882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaatactcgggcttccCatccactgccgtggcaatga	10	8	11	12	2	0	1	0	1	0	0	3	2	2	2	3	3	2	2	3	3	4	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:132192882C>G	ENST00000359827.3	-	2	1533	c.571G>C	c.(571-573)Ggg>Cgg	p.G191R	PLXNA4_ENST00000378539.5_Missense_Mutation_p.G191R|PLXNA4_ENST00000321063.4_Missense_Mutation_p.G191R|PLXNA4_ENST00000423507.2_Missense_Mutation_p.G191R			Q9HCM2	PLXA4_HUMAN	plexin A4	191	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGCTTCCCATCCACTGCC	0.542													9	104					0	0	0	0	G	132192882	C	G	132192882	3	3	442	1	0	0	0	0	1	0	0	0	12194	594	21	4	5551	4	PLXNA4	7	132192882	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	31981775	132192882	26945781	49	86615											
CALB1	793	broad.mit.edu	37	chr8	91094274	91094274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatccagccttctttcgcgCctgctggagctcctggatca	6	11	9	15	2	2	0	1	0	1	0	5	2	4	2	4	2	3	2	4	2	1	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr8:91094274C>A	ENST00000265431.3	-	2	317	c.136G>T	c.(136-138)Gcg>Tcg	p.A46S		NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	46	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTCGCGCCTGCTGGAGC	0.443													10	317					5.50884e-06	5.72072e-06	1	0	A	91094274	C	A	91094274	3	1	442	1	0	0	0	0	1	0	0	0	2598	739	26	4	689	4	CALB1	8	91094274	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		91094274	55269748	50	86616											
IFNW1	3467	broad.mit.edu	37	chr9	21141434	21141434	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaagaaaggggagattcTcctcatttggtgcagaagca	14	8	11	8	0	2	3	1	0	1	3	3	4	2	3	1	3	2	2	1	3	3	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr9:21141434T>A	ENST00000380229.2	-	1	710	c.136A>T	c.(136-138)Aga>Tga	p.R46*		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	46					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGGGAGATTCTCCTCATTTGG	0.517													106	112					0	0	0	0	A	21141434	T	A	21141434	4	1	442	1	0	0	0	0	0	1	0	0	7605	1559	54	5	455	5	IFNW1	9	21141434	Nonsense_Mutation	SNP	T	TCGA-IQ-A6SH-01A-12D-A34J-08		21141434	120071997	51	86617											
CDKN2A	1029	broad.mit.edu	37	chr9	21971088	21971088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaccaccagcgtgtccagGaagccctcccgggcagcgtc	8	4	12	17	3	0	0	0	0	0	0	3	1	2	1	5	2	4	2	5	2	1	0			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr9:21971088G>T	ENST00000579755.1	-	2	605	c.313C>A	c.(313-315)Cct>Act	p.P105T	CDKN2A_ENST00000497750.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P146T|CDKN2A_ENST00000479692.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.F39L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.F90L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P105T			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			Missing.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.F90F(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGTGTCCAGGAAGCCCTCCC	0.751		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			19	22					4.96729e-08	5.23894e-08	1	0	T	21971088	G	T	21971088	3	4	442	1	0	0	0	0	1	0	0	0	3190	1174	41	2	208	2	CDKN2A	9	21971088	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	829654	21971088	119242343	52	86618											
THNSL1	79896	broad.mit.edu	37	chr10	25312444	25312444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaaacctggaatatgAgtgtgtctgaaaaattacag	17	11	9	4	0	1	3	0	3	1	0	1	4	1	4	1	1	2	0	1	1	8	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:25312444A>G	ENST00000524413.1	+	3	639	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	THNSL1_ENST00000376356.4_Missense_Mutation_p.S98G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	98					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTGGAATATGAGTGTGTCTGA	0.383													4	117					0	0	0	0	G	25312444	A	G	25312444	3	3	442	1	0	0	0	0	1	0	0	0	15956	304	11	5	294	5	THNSL1	10	25312444	Missense_Mutation	SNP	A	TCGA-IQ-A6SH-01A-12D-A34J-08		25312444	110222303	53	86619											
ANKRD30A	91074	broad.mit.edu	37	chr10	37418911	37418911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgacgtccttgatggCgaacacaggacacctctgat	10	9	10	12	2	1	3	0	3	1	0	2	5	2	4	2	2	2	1	2	2	1	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:37418911C>T	ENST00000374660.1	+	2	243	c.144C>T	c.(142-144)ggC>ggT	p.G48G	ANKRD30A_ENST00000602533.1_Silent_p.G48G|ANKRD30A_ENST00000361713.1_Silent_p.G48G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	104						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCTTGATGGCGAACACAGGA	0.418													13	54					0	0	0	0	T	37418911	C	T	37418911	2	4	442	1	0	0	0	0	0	0	0	1	658	755	27	1		1	ANKRD30A	10	37418911	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	12106467	37418911	98115836	54	86620											
JMJD1C	221037	broad.mit.edu	37	chr10	64960317	64960317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgaataagtctacattctCgacacttttgtaaattaggc	12	14	7	8	2	2	0	0	0	2	0	3	2	2	0	0	1	2	1	0	1	6	7			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:64960317C>T	ENST00000399262.2	-	11	5413	c.5195G>A	c.(5194-5196)cGa>cAa	p.R1732Q	JMJD1C_ENST00000402544.1_Missense_Mutation_p.R1513Q|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1550Q|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1732					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTACATTCTCGACACTTTTG	0.383													35	70					0	0	0	0	T	64960317	C	T	64960317	3	4	442	1	0	0	0	0	1	0	0	0	8003	884	31	1	2491	1	JMJD1C	10	64960317	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	27541406	64960317	70574430	55	86621											
GRID1	2894	broad.mit.edu	37	chr10	87373264	87373265	+	Frame_Shift_Ins	INS	-	-	T																															aatggccaggatgcagaagaINSccccggcgaagctgtgcagc																										TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:87373264_87373265insT	ENST00000327946.7	-	15	2585_2586	c.2500_2501insA	c.(2500-2502)cttfs	p.L834fs	GRID1_ENST00000536331.1_Frame_Shift_Ins_p.L405fs	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	834						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GATGCAGAAGACCCCGGCGAAG	0.658										Multiple Myeloma(13;0.14)			17	69	---	---	---	---					T	87373265	-	T	87373264	7	5	442	1	0	1	1	0	0	0	0	0	6821	275	10	0	536	0	GRID1	10	87373264	Frame_Shift_Ins	INS	-	TCGA-IQ-A6SH-01A-12D-A34J-08	22412947	87373264	48161483	56	86622											
PAX2	5076	broad.mit.edu	37	chr10	102586776	102586776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcccgcagggagcgagttCtccggcaacccgtacagcca	8	5	11	17	4	1	0	0	0	1	0	3	2	2	1	5	2	4	4	5	2	2	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:102586776C>T	ENST00000370296.2	+	11	1734	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PAX2_ENST00000361791.3_Missense_Mutation_p.S372F|PAX2_ENST00000556085.1_Silent_p.F343F|PAX2_ENST00000355243.3_Silent_p.F344F|PAX2_ENST00000428433.1_Silent_p.F367F			Q02962	PAX2_HUMAN	paired box 2	0					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGAGCGAGTTCTCCGGCAACC	0.677													16	39					0	0	0	0	T	102586776	C	T	102586776	3	4	442	1	0	0	0	0	1	0	0	0	11550	913	32	2	1226	2	PAX2	10	102586776	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	15213512	102586776	32947971	57	86623											
OR2D2	120776	broad.mit.edu	37	chr11	6913228	6913228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaatgctgttactgcctcgGtagggtagcctcagtatgaa	9	11	12	9	1	1	1	1	1	0	0	2	1	1	1	2	2	4	6	2	2	6	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:6913228G>A	ENST00000299459.2	-	1	602	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTGCCTCGGTAGGGTAGCC	0.493													55	31					0	0	0	0	A	6913228	G	A	6913228	2	1	442	1	0	0	0	0	0	0	0	1	11065	1256	44	4		4	OR2D2	11	6913228	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08		6913228	128093288	58	86624											
PLEKHA7	144100	broad.mit.edu	37	chr11	16816136	16816136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaggtttgcagctgggggaAgagtcgaacctccagagggg	9	7	18	7	1	0	2	0	0	0	2	2	4	1	3	2	5	3	4	2	5	3	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:16816136A>T	ENST00000355661.3	-	19	2654	c.2644T>A	c.(2644-2646)Ttc>Atc	p.F882I	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F882I|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F882I			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	882	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCTGGGGGAAGAGTCGAACC	0.617													11	141					0	0	0	0	T	16816136	A	T	16816136	3	4	442	1	0	0	0	0	1	0	0	0	12133	72	3	5	741	5	PLEKHA7	11	16816136	Missense_Mutation	SNP	A	TCGA-IQ-A6SH-01A-12D-A34J-08	9902908	16816136	118190380	59	86625											
OR5L2	26338	broad.mit.edu	37	chr11	55595554	55595554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgattcccatgctgaaccCcctgatctacagcctgagaa	10	10	8	13	0	1	4	0	4	1	1	2	5	2	4	4	0	4	1	4	0	3	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:55595554C>T	ENST00000378397.1	+	1	860	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATGCTGAACCCCCTGATCTAC	0.438										HNSCC(27;0.073)			15	73					0	0	0	0	T	55595554	C	T	55595554	3	4	442	1	0	0	0	0	1	0	0	0	11242	623	22	4	862	4	OR5L2	11	55595554	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	38779418	55595554	79410962	60	86626											
FOLH1B	219595	broad.mit.edu	37	chr11	89431782	89431782	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctaagaggattctttagaGactctgtattgaatttgtgt	10	16	10	5	0	2	3	0	1	2	2	2	5	2	4	1	1	0	1	1	1	4	7			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:89431782G>A	ENST00000532352.1	+	0	2064							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTCTTTAGAGACTCTGTATT	0.358													12	35					0	0	0	0	A	89431782	G	A	89431782	1	1	442	0	1	0	0	0	0	0	0	0	6025	957	33	2		2	FOLH1B	11	89431782	RNA	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	33836228	89431782	45574734	61	86627											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275912	130275912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtactgcccatcagcCgtcttcagcgccaggtagtt	8	9	11	13	2	3	0	2	0	1	0	3	0	3	0	3	2	5	4	3	2	2	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:130275912C>T	ENST00000257359.6	-	9	2917	c.2211G>A	c.(2209-2211)acG>acA	p.T737T		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	737	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCCCATCAGCCGTCTTCAGCG	0.572													33	139					0	0	0	0	T	130275912	C	T	130275912	2	4	442	1	0	0	0	0	0	0	0	1	272	639	23	1		1	ADAMTS8	11	130275912	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	40844130	130275912	4730604	62	86628											
PIK3C2G	5288	broad.mit.edu	37	chr12	18699269	18699269	+	Frame_Shift_Del	DEL	G	G	-																															tggttaagatgctgtatgcaGgactgcctgagctaagtgga																										TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:18699269delG	ENST00000433979.1	+	25	3486	c.3370delG	c.(3370-3372)gafs	p.G1124fs	PIK3C2G_ENST00000266497.5_Frame_Shift_Del_p.G1124fs|PIK3C2G_ENST00000538779.1_Frame_Shift_Del_p.G1165fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1124	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCTGTATGCAGGACTGCCTGA	0.378													19	9	---	---	---	---					-	18699269	G	-	18699269	7	5	442	1	0	1	0	1	0	0	0	0	11983	1001	35	0	3464	0	PIK3C2G	12	18699269	Frame_Shift_Del	DEL	G	TCGA-IQ-A6SH-01A-12D-A34J-08		18699269	115152626	63	86629											
ITPR2	3709	broad.mit.edu	37	chr12	26784902	26784902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctgggtggcacatccGgcacgctcatggggaagatg	8	7	17	9	2	1	1	1	0	0	1	2	3	2	3	1	6	1	4	1	6	1	0			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:26784902G>A	ENST00000381340.3	-	22	3247	c.2831C>T	c.(2830-2832)cCg>cTg	p.P944L	RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	944					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGGCACATCCGGCACGCTCAT	0.542													23	225					0	0	0	0	A	26784902	G	A	26784902	3	1	442	1	0	0	0	0	1	0	0	0	7974	1116	39	1	5418	1	ITPR2	12	26784902	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	8085633	26784902	107066993	64	86630											
KRT80	144501	broad.mit.edu	37	chr12	52567511	52567511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccatgccgacggtcaccGacacatccttcacctgtgct	7	10	8	16	3	2	0	2	0	0	0	4	2	4	0	5	1	2	1	5	1	0	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:52567511G>A	ENST00000313234.5	-	5	801	c.704C>T	c.(703-705)tCg>tTg	p.S235L	KRT80_ENST00000394815.2_Missense_Mutation_p.S235L	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	235	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GACGGTCACCGACACATCCTT	0.667													21	76					0	0	0	0	A	52567511	G	A	52567511	3	1	442	1	0	0	0	0	1	0	0	0	8546	1059	37	1	709	1	KRT80	12	52567511	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	25782609	52567511	81284384	65	86631											
CHPT1	56994	broad.mit.edu	37	chr12	102117511	102117511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttataggtagctcacatGaccaaaagtgaactatatct	14	14	6	7	0	2	2	1	2	1	0	2	2	2	2	1	1	2	2	1	1	8	7			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:102117511G>T	ENST00000549872.1	+	7	1141	c.951G>T	c.(949-951)atG>atT	p.M317I	CHPT1_ENST00000229266.3_Missense_Mutation_p.M317I			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	317					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAGCTCACATGACCAAAAGTG	0.274													4	37					0.00024832	0.000253964	1	0	T	102117511	G	T	102117511	3	4	442	1	0	0	0	0	1	0	0	0	3399	1290	45	2	977	2	CHPT1	12	102117511	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	49550000	102117511	31734384	66	86632											
FZD10	11211	broad.mit.edu	37	chr12	130649199	130649199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaactcaccacgggaaatAtgagatccctgcccagtcgc	13	6	9	13	2	1	1	1	1	0	1	3	4	2	2	3	1	2	0	3	1	4	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:130649199A>G	ENST00000229030.4	+	1	2196	c.1712A>G	c.(1711-1713)tAt>tGt	p.Y571C	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	571					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CACGGGAAATATGAGATCCCT	0.557													9	39					0	0	0	0	G	130649199	A	G	130649199	3	3	442	1	0	0	0	0	1	0	0	0	6177	449	16	5	1714	5	FZD10	12	130649199	Missense_Mutation	SNP	A	TCGA-IQ-A6SH-01A-12D-A34J-08	28531688	130649199	3202696	67	86633											
SACS	26278	broad.mit.edu	37	chr13	23905610	23905610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcactcctaaactgtcaagTttctcaccaatcctgtaaat	12	14	3	12	0	3	0	3	0	1	0	6	0	5	0	3	0	1	2	3	0	6	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:23905610T>A	ENST00000382298.3	-	10	12993	c.12405A>T	c.(12403-12405)aaA>aaT	p.K4135N	SACS_ENST00000402364.1_Missense_Mutation_p.K3385N|SACS_ENST00000382292.3_Missense_Mutation_p.K4135N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4135					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGTCAAGTTTCTCACCAA	0.388													17	166					0	0	0	0	A	23905610	T	A	23905610	3	1	442	1	0	0	0	0	1	0	0	0	13889	1722	60	5	1338	5	SACS	13	23905610	Missense_Mutation	SNP	T	TCGA-IQ-A6SH-01A-12D-A34J-08		23905610	91264268	68	86634											
KBTBD6	89890	broad.mit.edu	37	chr13	41704634	41704636	+	In_Frame_Del	DEL	CTA	CTA	-																															ctgtgcatttcactgaggcgCtacacgcacccaaaaatcat																										TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:41704634_41704636delCTA	ENST00000379485.1	-	1	2246_2248	c.2012_2014delTAG	c.(2011-2016)gcg>g	p.VA671del	KBTBD6_ENST00000499385.2_In_Frame_Del_p.VA605del	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	671							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACTGAGGCGCTACACGCACCCA	0.394													19	44	---	---	---	---					-	41704636	CTA	-	41704634	7	5	442	1	0	1	0	1	0	0	0	0	8050	797	28	0	14	0	KBTBD6	13	41704634	In_Frame_Del	DEL	CTA	TCGA-IQ-A6SH-01A-12D-A34J-08	17799024	41704634	73465244	69	86635											
ATP7B	540	broad.mit.edu	37	chr13	52515327	52515327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcagccactcacggtttCcaatcagcacagagaaggtc	11	7	9	14	1	3	1	3	0	0	1	5	2	4	1	3	2	2	2	3	2	2	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:52515327C>A	ENST00000242839.4	-	16	3602	c.3446G>T	c.(3445-3447)gGa>gTa	p.G1149V	ATP7B_ENST00000448424.2_Missense_Mutation_p.G1071V|ATP7B_ENST00000418097.2_Missense_Mutation_p.G1084V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G942V|ATP7B_ENST00000400370.3_Missense_Mutation_p.G719V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G360V|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1038V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1149			G -> A (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCACGGTTTCCAATCAGCAC	0.468									Wilson disease				24	60					1.55469e-16	1.69261e-16	1	0	A	52515327	C	A	52515327	3	1	442	1	0	0	0	0	1	0	0	0	1195	855	30	2	975	2	ATP7B	13	52515327	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	10810693	52515327	62654551	70	86636											
JAG2	3714	broad.mit.edu	37	chr14	105609257	105609257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccggccggcccgggcagCgcctcgtccgccctgcgcgg	1	4	17	19	8	0	0	0	0	0	0	2	0	1	0	6	5	2	1	6	5	0	0			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:105609257C>T	ENST00000331782.3	-	26	3895	c.3492G>A	c.(3490-3492)gcG>gcA	p.A1164A	JAG2_ENST00000347004.2_Silent_p.A1126A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1164					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gcccgggcagcgcctcgtccg	0.706													12	44					0	0	0	0	T	105609257	C	T	105609257	2	4	442	1	0	0	0	0	0	0	0	1	7988	755	27	1		1	JAG2	14	105609257	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		105609257	1740283	71	86637											
MAN2A2	4122	broad.mit.edu	37	chr15	91456856	91456856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaggtgcagccccgaCggtatctgaagaagctcccc	9	5	10	17	2	1	2	0	1	1	1	2	3	2	2	6	2	3	3	6	2	3	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr15:91456856C>T	ENST00000360468.3	+	18	2749	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R419W|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R101W|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R911W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	911					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			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCCCCGACGGTATCTGAA	0.627													8	16					0	0	0	0	T	91456856	C	T	91456856	3	4	442	1	0	0	0	0	1	0	0	0	9284	527	19	1	2801	1	MAN2A2	15	91456856	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		91456856	11074536	72	86638											
CASKIN1	57524	broad.mit.edu	37	chr16	2237366	2237366	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acactcacatccagcagcagCcgcaccacctctgtctttcc	9	8	5	19	1	3	0	1	0	2	0	5	0	5	0	5	0	3	3	5	0	0	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:2237366C>T	ENST00000343516.6	-	7	806	c.714G>A	c.(712-714)cgG>cgA	p.R238R		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	238					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCAGCAGCAGCCGCACCACCT	0.652													52	92					0	0	0	0	T	2237366	C	T	2237366	2	4	442	1	0	0	0	0	0	0	0	1	2691	726	26	4		4	CASKIN1	16	2237366	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		2237366	88117387	73	86639											
PPL	5493	broad.mit.edu	37	chr16	4954018	4954019	+	Frame_Shift_Ins	INS	-	-	C																															cccggtgctcaggctgccgaINSccctcctgcagccgagccag																										TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:4954018_4954019insC	ENST00000345988.2	-	3	274_275	c.185_186insG	c.(184-186)gcgfs	p.A62fs	PPL_ENST00000590782.2_Frame_Shift_Ins_p.A62fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	62					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGCTGCCGACCCTCCTGCAG	0.619													20	32	---	---	---	---					C	4954019	-	C	4954018	7	5	442	1	0	1	1	0	0	0	0	0	12410	262	10	0	5164	0	PPL	16	4954018	Frame_Shift_Ins	INS	-	TCGA-IQ-A6SH-01A-12D-A34J-08	2716652	4954018	85400735	74	86640											
PDILT	204474	broad.mit.edu	37	chr16	20370764	20370764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcttccagcttggatacGtacttggtcatgttctccag	6	14	10	11	1	3	0	1	0	2	0	5	1	4	1	2	3	3	4	2	3	2	6			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:20370764G>A	ENST00000302451.4	-	12	1880	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	544					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.Y544Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTTGGATACGTACTTGGTCA	0.512													109	199					0	0	0	0	A	20370764	G	A	20370764	2	1	442	1	0	0	0	0	0	0	0	1	11745	1140	40	1		1	PDILT	16	20370764	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	15416746	20370764	69983989	75	86641											
ATXN2L	11273	broad.mit.edu	37	chr16	28848065	28848065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagttcaatctcatccctcCcagcagctccccttccaccc	7	9	3	22	0	2	0	2	0	1	0	7	0	6	0	7	0	2	3	7	0	1	2			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:28848065C>T	ENST00000340394.8	+	23	3314	c.3102C>T	c.(3100-3102)tcC>tcT	p.S1034S	ATXN2L_ENST00000395547.2_3'UTR|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000564304.1_Silent_p.S1058S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Silent_p.S1052S|ATXN2L_ENST00000336783.4_3'UTR	NM_148415.2|NM_148416.2	NP_680781.1|NP_680782.1	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1032						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCATCCCTCCCAGCAGCTCC	0.587													19	87					0	0	0	0	T	28848065	C	T	28848065	2	4	442	1	0	0	0	0	0	0	0	1	1216	610	22	4		4	ATXN2L	16	28848065	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	8477301	28848065	61506688	76	86642											
SALL1	6299	broad.mit.edu	37	chr16	51175091	51175091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaggacggggtggtaaCtgccgctgccaatatgttca	9	10	13	9	2	2	1	2	0	0	1	2	2	2	2	2	4	3	3	2	4	3	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:51175091C>T	ENST00000440970.1	-	2	1182	c.751G>A	c.(751-753)Gtt>Att	p.V251I	SALL1_ENST00000251020.4_Missense_Mutation_p.V348I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	348					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGGTGGTAACTGCCGCTGCC	0.532													29	130					0	0	0	0	T	51175091	C	T	51175091	3	4	442	1	0	0	0	0	1	0	0	0	13895	565	20	4	2940	4	SALL1	16	51175091	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	22327026	51175091	39179662	77	86643											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccactcggataagatgctGaggaggggccagacctaaga	12	7	13	9	1	0	4	0	1	0	3	2	6	1	6	3	4	1	1	3	4	2	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557		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)			37	32					0	0	0	0	A	7578275	G	A	7578275	4	1	442	1	0	0	0	0	0	1	0	0	16476	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08		7578275	73616935	78	86644											
FOXJ1	2302	broad.mit.edu	37	chr17	74136150	74136150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtagtccacgtcgtcGgggggtggggcctgcagccc	3	7	19	12	4	0	0	0	0	0	0	3	0	1	0	3	6	2	2	3	6	1	1	rs145296122	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:74136150G>A	ENST00000322957.6	-	2	681	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	109					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCACGTCGTCGGGGGGTGGGG	0.706													7	46					0	0	0	0	A	74136150	G	A	74136150	2	1	442	1	0	0	0	0	0	0	0	1	6058	1103	39	1		1	FOXJ1	17	74136150	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	66557875	74136150	7059060	79	86645											
ACTG1	71	broad.mit.edu	37	chr17	79479040	79479040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaggtgtggtgccagatCttctccatgtcgtcccagtt	7	13	11	10	1	2	2	0	0	2	2	5	2	3	2	3	2	1	1	3	2	2	3	rs139059365	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:79479040C>T	ENST00000575842.1	-	2	678	c.252G>A	c.(250-252)aaG>aaA	p.K84K	ACTG1_ENST00000573283.1_Silent_p.K84K|ACTG1_ENST00000331925.2_Silent_p.K84K|ACTG1_ENST00000575087.1_Silent_p.K84K			P63261	ACTG_HUMAN	actin, gamma 1	84					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGTGCCAGATCTTCTCCATGT	0.622													88	64					0	0	0	0	T	79479040	C	T	79479040	2	4	442	1	0	0	0	0	0	0	0	1	196	912	32	2		2	ACTG1	17	79479040	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	5342890	79479040	1716170	80	86646											
ASPSCR1	79058	broad.mit.edu	37	chr17	79973059	79973059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaggagatggaggcgacGtggactctgggaggcttctt	7	10	18	6	2	2	1	0	0	2	1	2	6	2	4	0	7	0	2	0	7	1	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:79973059G>A	ENST00000306729.7	+	13	1559	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306739.4_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	488							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGGAGGCGACGTGGACTCTGG	0.627			T	TFE3	alveolar soft part sarcoma								20	93					0	0	0	0	A	79973059	G	A	79973059	3	1	442	1	0	0	0	0	1	0	0	0	1063	1160	40	1		1	ASPSCR1	17	79973059	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	494019	79973059	1222151	81	86647											
ESCO1	114799	broad.mit.edu	37	chr18	19153390	19153390	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctttctgtggttttattaAtttctactgtaatatcatta	9	21	4	7	0	3	0	1	0	2	0	3	0	3	0	1	1	1	2	1	1	6	9			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr18:19153390A>T	ENST00000269214.5	-	4	2352	c.1415T>A	c.(1414-1416)aTt>aAt	p.I472N		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	472					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GGTTTTATTAATTTCTACTGT	0.318													62	130					0	0	0	0	T	19153390	A	T	19153390	3	4	442	1	0	0	0	0	1	0	0	0	5286	101	4	5	1143	5	ESCO1	18	19153390	Missense_Mutation	SNP	A	TCGA-IQ-A6SH-01A-12D-A34J-08		19153390	58923858	82	86648											
ZNF700	90592	broad.mit.edu	37	chr19	12060899	12060899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgggaatggattcacatCtgccaagattcttcaaatac	12	13	8	8	0	4	1	2	0	2	1	4	3	4	3	1	2	2	0	1	2	4	5			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:12060899C>T	ENST00000482090.1	+	3	2424	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	ZNF700_ENST00000254321.5_Missense_Mutation_p.S687F|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GGATTCACATCTGCCAAGATT	0.363													22	79					0	0	0	0	T	12060899	C	T	12060899	3	4	442	1	0	0	0	0	1	0	0	0	18199	913	32	2	2074	2	ZNF700	19	12060899	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		12060899	47068084	83	86649											
TSSK6	83983	broad.mit.edu	37	chr19	19625862	19625862	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accaggtgatgatcgtgcagGtagcgcacggcgccggcgat	8	6	16	11	6	0	2	0	2	0	0	1	3	0	2	2	4	2	3	2	4	1	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:19625862G>A	ENST00000360913.3	-	1	976	c.375C>T	c.(373-375)taC>taT	p.Y125Y	TSSK6_ENST00000585580.3_Silent_p.Y125Y			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	125	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GATCGTGCAGGTAGCGCACGG	0.692													19	66					0	0	0	0	A	19625862	G	A	19625862	2	1	442	1	0	0	0	0	0	0	0	1	16767	1256	44	4		4	TSSK6	19	19625862	Silent	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	7564963	19625862	39503121	84	86650											
LIG1	3978	broad.mit.edu	37	chr19	48643366	48643366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacagggccaccacggagcGcagcaagttgctcagcgtct	9	5	13	14	4	2	0	1	0	1	0	2	2	2	1	2	2	4	4	2	2	1	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:48643366G>A	ENST00000263274.7	-	12	1368	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	LIG1_ENST00000536218.1_Missense_Mutation_p.R249C|LIG1_ENST00000427526.2_Missense_Mutation_p.R286C	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	317					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACCACGGAGCGCAGCAAGTTG	0.657								Nucleotide excision repair (NER)					31	29					0	0	0	0	A	48643366	G	A	48643366	3	1	442	1	0	0	0	0	1	0	0	0	8835	1087	38	1	1878	1	LIG1	19	48643366	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	29017504	48643366	10485617	85	86651											
TMC2	117532	broad.mit.edu	37	chr20	2593924	2593924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctacgggcttgttttgtgCggttcatgaactactgctgg	5	15	12	9	2	1	1	1	1	0	0	2	1	2	1	1	3	5	4	1	3	3	6	rs138165699		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:2593924C>T	ENST00000358864.1	+	14	1843	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	610						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGTTTTGTGCGGTTCATGAA	0.498													4	127					0	0	0	0	T	2593924	C	T	2593924	3	4	442	1	0	0	0	0	1	0	0	0	16079	759	27	1	1882	1	TMC2	20	2593924	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08		2593924	60431596	86	86652											
GFRA4	64096	broad.mit.edu	37	chr20	3641501	3641501	+	Frame_Shift_Del	DEL	G	G	-																															gcacgagacctgaaaggccaGgaggcgaggcctgcgcggcg																										TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:3641501delG	ENST00000290417.2	-	3	402	c.403delC	c.(403-405)tgfs	p.L135fs	GFRA4_ENST00000319242.3_Frame_Shift_Del_p.P161fs	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	135						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						TGAAAGGCCAGGAGGCGAGGC	0.801													2	4	---	---	---	---					-	3641501	G	-	3641501	7	5	442	1	0	1	0	1	0	0	0	0	6401	1000	35	0	433	0	GFRA4	20	3641501	Frame_Shift_Del	DEL	G	TCGA-IQ-A6SH-01A-12D-A34J-08	1047577	3641501	59384019	87	86653											
PLTP	5360	broad.mit.edu	37	chr20	44538243	44538243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccgtccagcgggatcccGggagagctccagaccagtgc	8	5	13	15	3	0	2	0	0	0	2	4	4	4	3	5	2	3	1	5	2	0	0	rs138807551		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:44538243G>A	ENST00000477313.1	-	4	991	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	PLTP_ENST00000542937.1_Missense_Mutation_p.R153W|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45W|PLTP_ENST00000372431.3_Missense_Mutation_p.R133W			P55058	PLTP_HUMAN	phospholipid transfer protein	133					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCGGGATCCCGGGAGAGCTCC	0.597													19	151					0	0	0	0	A	44538243	G	A	44538243	3	1	442	1	0	0	0	0	1	0	0	0	12186	1115	39	1	1132	1	PLTP	20	44538243	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	40896742	44538243	18487277	88	86654											
CHRNA4	1137	broad.mit.edu	37	chr20	61981080	61981080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcccgggtcagggccggCgacaggggcaggtgcggggg	5	2	22	12	5	1	0	1	0	0	0	1	1	1	0	3	8	1	1	3	8	0	0			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:61981080C>T	ENST00000370263.4	-	5	1904	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S	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)	561					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			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)	TCAGGGCCGGCGACAGGGGCA	0.657													14	136					0	0	0	0	T	61981080	C	T	61981080	2	4	442	1	0	0	0	0	0	0	0	1	3414	755	27	1		1	CHRNA4	20	61981080	Silent	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	17442837	61981080	1044440	89	86655											
PCNT	5116	broad.mit.edu	37	chr21	47776888	47776888	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgctccttttccacacaGagcttccctgggtgcatctc	5	12	7	17	0	1	1	0	0	1	1	5	1	4	1	4	1	3	3	4	1	0	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr21:47776888G>C	ENST00000359568.5	+	13	2043		c.e13-1		PCNT_ENST00000480896.1_Splice_Site	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTCCACACAGAGCTTCCCTG	0.607													7	70					0	0	0	0	C	47776888	G	C	47776888	5	2	442	1	0	0	0	0	0	0	1	0	11661	956	33	2	1986	2	PCNT	21	47776888	Splice_Site	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08		47776888	353007	90	86656											
APOL4	80832	broad.mit.edu	37	chr22	36587488	36587488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaatcaagtgcaaaagAaagcacattgggtgtgatgt	16	9	11	5	0	2	2	2	1	0	1	2	2	2	2	0	1	2	2	0	1	6	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr22:36587488A>G	ENST00000332987.1	-	7	1101	c.679T>C	c.(679-681)Tct>Cct	p.S227P	APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.S230P|APOL4_ENST00000405511.1_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	231					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						AGTGCAAAAGAAAGCACATTG	0.473													28	86					0	0	0	0	G	36587488	A	G	36587488	3	3	442	1	0	0	0	0	1	0	0	0	810	246	9	5	368	5	APOL4	22	36587488	Missense_Mutation	SNP	A	TCGA-IQ-A6SH-01A-12D-A34J-08		36587488	14717078	91	86657											
MAGEB18	286514	broad.mit.edu	37	chrX	26157128	26157128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggtcagaagagtaagcTccgtgcccgtgagaaacgcc	11	6	13	11	4	1	3	1	1	0	3	3	5	2	3	3	1	3	2	3	1	3	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:26157128T>C	ENST00000325250.1	+	2	213	c.26T>C	c.(25-27)cTc>cCc	p.L9P		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	9							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGAGTAAGCTCCGTGCCCGT	0.542													3	24					0	0	0	0	C	26157128	T	C	26157128	3	2	442	1	0	0	0	0	1	0	0	0	9244	1551	54	5	28	5	MAGEB18	23	26157128	Missense_Mutation	SNP	T	TCGA-IQ-A6SH-01A-12D-A34J-08		26157128	129113432	92	86658											
SYTL5	94122	broad.mit.edu	37	chrX	37965888	37965888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtttacagtgaaacgggaGactatggcaacgtgaaagtc	13	8	13	7	3	0	3	0	2	0	1	1	4	0	3	0	2	3	2	0	2	5	3			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:37965888G>C	ENST00000357972.5	+	11	1744	c.1198G>C	c.(1198-1200)Gac>Cac	p.D400H	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.D400H|SYTL5_ENST00000456733.2_Missense_Mutation_p.D422H			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	400					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGAAACGGGAGACTATGGCAA	0.413													27	26					0	0	0	0	C	37965888	G	C	37965888	3	2	442	1	0	0	0	0	1	0	0	0	15577	942	33	2	1306	2	SYTL5	23	37965888	Missense_Mutation	SNP	G	TCGA-IQ-A6SH-01A-12D-A34J-08	11808760	37965888	117304672	93	86659											
LHFPL1	340596	broad.mit.edu	37	chrX	111914239	111914239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagaagcacagtcttacctCcaacaaactgcgctgctccc	11	7	6	17	1	1	1	0	0	1	1	3	1	3	1	4	0	6	3	4	0	4	1			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:111914239C>T	ENST00000371968.3	-	2	619	c.380G>A	c.(379-381)gGa>gAa	p.G127E	LHFPL1_ENST00000536453.1_Missense_Mutation_p.G127E|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	127						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AGTCTTACCTCCAACAAACTG	0.572													7	54					0	0	0	0	T	111914239	C	T	111914239	3	4	442	1	0	0	0	0	1	0	0	0	8818	855	30	2	294	2	LHFPL1	23	111914239	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	73948351	111914239	43356321	94	86660											
GPR112	139378	broad.mit.edu	37	chrX	135431039	135431039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atctgggattactaacaggtCcctatctactgtgaacagtg	11	12	9	9	0	2	1	0	1	2	0	3	2	3	2	1	2	4	0	1	2	5	4			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:135431039C>T	ENST00000394143.1	+	6	5465	c.5174C>T	c.(5173-5175)tCc>tTc	p.S1725F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1520F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1520F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1725F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1662F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1725					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTAACAGGTCCCTATCTACT	0.418													42	90					0	0	0	0	T	135431039	C	T	135431039	3	4	442	1	0	0	0	0	1	0	0	0	6678	855	30	2	5184	2	GPR112	23	135431039	Missense_Mutation	SNP	C	TCGA-IQ-A6SH-01A-12D-A34J-08	23516800	135431039	19839521	95	86661											
MXRA8	54587	broad.mit.edu	37	chr1	1289842	1289842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagaagtgggctcggctctCggggacgatgacattgatga	10	8	16	7	3	1	4	0	3	1	1	3	7	1	5	0	4	0	2	0	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:1289842C>G	ENST00000309212.6	-	6	1027	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	MXRA8_ENST00000342753.4_Missense_Mutation_p.E232Q|MXRA8_ENST00000445648.2_Missense_Mutation_p.E333Q	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	333						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTCGGCTCTCGGGGACGATG	0.682													11	60					0	0	0	0	G	1289842	C	G	1289842	3	3	443	1	0	0	0	0	1	0	0	0	10075	893	31	3	351	3	MXRA8	1	1289842	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		1289842	247960779	1	86662											
GABRD	2563	broad.mit.edu	37	chr1	1961046	1961046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagtgcccgctcctccctgCcacgggcatcagccatcaag	7	7	9	18	2	3	0	3	0	0	0	5	0	5	0	5	1	3	2	5	1	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:1961046C>G	ENST00000378585.4	+	8	987	c.904C>G	c.(904-906)Cca>Gca	p.P302A		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	302						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCTCCCTGCCACGGGCATC	0.607													28	26					0	0	0	0	G	1961046	C	G	1961046	3	3	443	1	0	0	0	0	1	0	0	0	6217	739	26	4	934	4	GABRD	1	1961046	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	671204	1961046	247289575	2	86663											
LRRC47	57470	broad.mit.edu	37	chr1	3712512	3712512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgagcaggggcagcgCgccggggcgaaagagctcgg	8	4	18	11	5	1	2	1	1	0	1	2	3	1	2	1	5	3	3	1	5	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:3712512C>T	ENST00000378251.1	-	1	556	c.529G>A	c.(529-531)Gcg>Acg	p.A177T		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	177					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGGGGCAGCGCGCCGGGGCGA	0.697													8	9					0	0	0	0	T	3712512	C	T	3712512	3	4	443	1	0	0	0	0	1	0	0	0	9068	768	27	1	1250	1	LRRC47	1	3712512	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1751466	3712512	245538109	3	86664											
GPR153	387509	broad.mit.edu	37	chr1	6311533	6311533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacggagcaccacagcaCgcagagtgccatccagggcg	10	2	14	15	3	0	1	0	0	0	1	1	2	1	2	4	3	3	3	4	3	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:6311533C>A	ENST00000377893.2	-	4	1103	c.844G>T	c.(844-846)Gtg>Ttg	p.V282L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	282						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V282M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CACCACAGCACGCAGAGTGCC	0.692													18	24					5.3912e-06	5.73981e-06	1	0	A	6311533	C	A	6311533	3	1	443	1	0	0	0	0	1	0	0	0	6708	536	19	3	997	3	GPR153	1	6311533	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2599021	6311533	242939088	4	86665											
ERRFI1	54206	broad.mit.edu	37	chr1	8073611	8073611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcaggggcaaagctctGtgtcgggggcatgaccccat	8	7	16	10	1	2	1	1	1	1	0	3	2	2	2	2	5	1	3	2	5	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:8073611G>C	ENST00000377482.5	-	4	1271	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	350	Interaction with EGFR and ERBB2 and regulation of EGFR activation.				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GCAAAGCTCTGTGTCGGGGGC	0.527													25	201					0	0	0	0	C	8073611	G	C	8073611	3	2	443	1	0	0	0	0	1	0	0	0	5282	1386	48	4	344	4	ERRFI1	1	8073611	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1762078	8073611	241177010	5	86666											
CLCN6	1185	broad.mit.edu	37	chr1	11897460	11897460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagactggaccatggaGgagcggttccgccctctgac	9	7	14	11	2	1	3	0	2	1	1	2	6	2	6	3	4	1	1	3	4	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:11897460G>C	ENST00000346436.6	+	20	2251	c.2199G>C	c.(2197-2199)gaG>gaC	p.E733D	CLCN6_ENST00000376487.3_Missense_Mutation_p.E711D|CLCN6_ENST00000376496.3_Missense_Mutation_p.E733D|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	733					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCATGGAGGAGCGGTTCC	0.552													12	116					0	0	0	0	C	11897460	G	C	11897460	3	2	443	1	0	0	0	0	1	0	0	0	3497	991	35	4	2287	4	CLCN6	1	11897460	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3823849	11897460	237353161	6	86667											
TNFRSF8	943	broad.mit.edu	37	chr1	12144558	12144558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtcatggaaaccccaGccactactatgacaaggctg	12	7	8	14	0	1	1	1	1	0	0	1	2	1	2	4	2	3	1	4	2	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:12144558G>A	ENST00000263932.2	+	2	323	c.101G>A	c.(100-102)aGc>aAc	p.S34N	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	34					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAACCCCAGCCACTACTAT	0.582													37	71					0	0	0	0	A	12144558	G	A	12144558	3	1	443	1	0	0	0	0	1	0	0	0	16393	971	34	4	107	4	TNFRSF8	1	12144558	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	247098	12144558	237106063	7	86668											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532501	16532501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactctgcggaaggccgggCagtggtccagcaccacgtcg	8	5	15	13	4	1	1	0	0	1	1	3	2	2	2	3	4	2	2	3	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:16532501C>A	ENST00000270747.3	-	8	1512	c.1376G>T	c.(1375-1377)tGc>tTc	p.C459F	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.C459F|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	459	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGCCGGGCAGTGGTCCAG	0.652													5	8					0.00198382	0.00205043	1	0	A	16532501	C	A	16532501	3	1	443	1	0	0	0	0	1	0	0	0	904	710	25	4	1068	4	ARHGEF19	1	16532501	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4387943	16532501	232718120	8	86669											
MRTO4	51154	broad.mit.edu	37	chr1	19584989	19584989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgtggtgactctgctgtCtgactacgaggtgtgcaagg	7	11	16	7	1	2	2	0	2	2	0	2	3	2	2	0	4	3	2	0	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:19584989C>G	ENST00000330263.4	+	7	809	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	171					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTGCTGTCTGACTACGAG	0.637													5	141					0	0	0	0	G	19584989	C	G	19584989	3	3	443	1	0	0	0	0	1	0	0	0	9922	913	32	2	538	2	MRTO4	1	19584989	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3052488	19584989	229665632	9	86670											
PLA2G2C	391013	broad.mit.edu	37	chr1	20490636	20490636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagctggcaccaggacCaagggtgcatccacctacag	10	5	13	13	0	0	0	0	0	0	0	1	1	1	1	4	4	3	4	4	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:20490636C>A	ENST00000429261.2	-	4	358	c.298G>T	c.(298-300)Ggt>Tgt	p.G100C	PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G101C					phospholipase A2, group IIC											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCACCAGGACCAAGGGTGCAT	0.582													6	18					0.00198382	0.00205043	1	0	A	20490636	C	A	20490636	3	1	443	1	0	0	0	0	1	0	0	0	12068	594	21	4	155	4	PLA2G2C	1	20490636	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	905647	20490636	228759985	10	86671											
HP1BP3	50809	broad.mit.edu	37	chr1	21099981	21099981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgcatccatcttgggaCgtggggaagaagccatcggt	10	9	14	8	2	1	2	0	0	1	2	3	4	2	4	2	4	2	1	2	4	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:21099981C>A	ENST00000375003.2	-	1	1517	c.17G>T	c.(16-18)cGt>cTt	p.R6L	HP1BP3_ENST00000312239.5_Missense_Mutation_p.R158L			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	158					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CATCTTGGGACGTGGGGAAGA	0.403													28	45					5.09552e-08	5.58456e-08	1	0	A	21099981	C	A	21099981	3	1	443	1	0	0	0	0	1	0	0	0	7378	536	19	3	1224	3	HP1BP3	1	21099981	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	609345	21099981	228150640	11	86672											
ARID1A	8289	broad.mit.edu	37	chr1	27101099	27101099	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttccattccagtttggcCgagaccgtgtctctgcaccc	7	12	8	14	2	1	1	0	0	1	1	4	2	3	1	5	1	1	2	5	1	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:27101099C>T	ENST00000324856.7	+	18	4752	c.4381C>T	c.(4381-4383)Cga>Tga	p.R1461*	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1078*|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1461					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTTTGGCCGAGACCGTGT	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								32	15					0	0	0	0	T	27101099	C	T	27101099	4	4	443	1	0	0	0	0	0	1	0	0	915	644	23	1	4451	1	ARID1A	1	27101099	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6001118	27101099	222149522	12	86673											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-																															ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													7	251	---	---	---	---					-	32670248	TG	-	32670247	7	5	443	1	0	1	0	1	0	0	0	0	2829	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-KU-A66S-01A-21D-A30E-08	5569148	32670247	216580374	13	86674											
RRAGC	64121	broad.mit.edu	37	chr1	39322728	39322728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccaaaaagagggtctcGttgggtgacatcttatgaaa	12	12	10	7	1	2	3	0	2	2	1	4	3	3	3	1	2	0	1	1	2	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:39322728G>C	ENST00000373001.3	-	2	440	c.264C>G	c.(262-264)aaC>aaG	p.N88K		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	88					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AGAGGGTCTCGTTGGGTGACA	0.348													12	78					0	0	0	0	C	39322728	G	C	39322728	3	2	443	1	0	0	0	0	1	0	0	0	13759	1136	40	3	959	3	RRAGC	1	39322728	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6652481	39322728	209927893	14	86675											
MACF1	23499	broad.mit.edu	37	chr1	39750068	39750068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaggagagagaaaaaGgaagaattgaggaattatat	19	7	13	2	0	0	4	0	1	0	3	0	8	0	6	1	4	0	0	1	4	8	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:39750068G>C	ENST00000564288.1	+	11	1876	c.1099G>C	c.(1099-1101)Gga>Cga	p.G367R	MACF1_ENST00000372915.3_Missense_Mutation_p.G372R|MACF1_ENST00000317713.7_Missense_Mutation_p.G372R|MACF1_ENST00000567887.1_Missense_Mutation_p.G404R|MACF1_ENST00000361689.2_Missense_Mutation_p.G372R|MACF1_ENST00000545844.1_Missense_Mutation_p.G372R|MACF1_ENST00000539005.1_Missense_Mutation_p.G372R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	372					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAGAAAAAGGAAGAATTGA	0.333													4	46					0	0	0	0	C	39750068	G	C	39750068	3	2	443	1	0	0	0	0	1	0	0	0	9209	1001	35	4	1152	4	MACF1	1	39750068	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	427340	39750068	209500553	15	86676											
IPO13	9670	broad.mit.edu	37	chr1	44424164	44424164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggctgatgcaggcgcTgggcttcctgctgtcagctc	4	11	14	12	1	1	1	1	1	0	0	3	1	2	1	1	3	3	6	1	3	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:44424164T>C	ENST00000372343.3	+	10	2443	c.1781T>C	c.(1780-1782)cTg>cCg	p.L594P		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	594					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGCAGGCGCTGGGCTTCCTG	0.542													28	88					0	0	0	0	C	44424164	T	C	44424164	3	2	443	1	0	0	0	0	1	0	0	0	7847	1580	55	5	1819	5	IPO13	1	44424164	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	4674096	44424164	204826457	16	86677											
CDCP2	200008	broad.mit.edu	37	chr1	54606862	54606862	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcccagagacacgagggtGgggggcctggtgctgccaca	7	5	18	11	1	0	1	0	0	0	1	0	3	0	1	3	6	2	1	3	6	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:54606862G>C	ENST00000371330.1	-	3	1519	c.672C>G	c.(670-672)ccC>ccG	p.P224P		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	224	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACACGAGGGTGGGGGGCCTGG	0.622													4	53					0	0	0	0	C	54606862	G	C	54606862	2	2	443	1	0	0	0	0	0	0	0	1	3123	1335	47	4		4	CDCP2	1	54606862	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	10182698	54606862	194643759	17	86678											
CACHD1	57685	broad.mit.edu	37	chr1	65129394	65129394	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaagtcccaccatcatGctgtctgctggcagcttttc	8	12	8	13	0	3	1	2	0	1	1	5	1	4	1	2	1	3	4	2	1	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:65129394G>C	ENST00000371073.2	+	14	1968	c.1968G>C	c.(1966-1968)atG>atC	p.M656I	CACHD1_ENST00000290039.5_Missense_Mutation_p.M605I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	656					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCACCATCATGCTGTCTGCTG	0.537													44	272					0	0	0	0	C	65129394	G	C	65129394	3	2	443	1	0	0	0	0	1	0	0	0	2562	1319	46	4	1869	4	CACHD1	1	65129394	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	10522532	65129394	184121227	18	86679											
C1orf173	127254	broad.mit.edu	37	chr1	75038820	75038820	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgctgcttgtcctatGgggtctgaccccccttcacc	3	14	9	15	0	2	1	1	1	1	0	3	1	3	1	5	2	3	3	5	2	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:75038820G>T	ENST00000326665.5	-	14	2792	c.2574C>A	c.(2572-2574)ccC>ccA	p.P858P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	858	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTGTCCTATGGGGTCTGACC	0.532													64	91					2.32099e-22	2.85784e-22	1	0	T	75038820	G	T	75038820	2	4	443	1	0	0	0	0	0	0	0	1	2033	1335	47	4		4	C1orf173	1	75038820	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	9909426	75038820	174211801	19	86680											
IFI44L	10964	broad.mit.edu	37	chr1	79093737	79093737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggttgaaagatgcagccGtcagggatgtactataacaa	14	10	11	6	1	1	2	1	1	0	1	1	3	1	3	1	2	4	3	1	2	6	5	rs149202070	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:79093737G>A	ENST00000370751.4	+	2	316	c.137G>A	c.(136-138)cGt>cAt	p.R46H	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	46						cytoplasm		p.R7H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGATGCAGCCGTCAGGGATGT	0.363													24	44					0	0	0	0	A	79093737	G	A	79093737	3	1	443	1	0	0	0	0	1	0	0	0	7571	1145	40	1	139	1	IFI44L	1	79093737	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4054917	79093737	170156884	20	86681											
ELTD1	64123	broad.mit.edu	37	chr1	79357359	79357359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaggaacagaagagcgagGgctcctcttgcacaagacct	14	5	12	10	1	1	4	0	0	1	4	2	6	2	5	2	2	3	2	2	2	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:79357359G>A	ENST00000370742.3	-	14	1923	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	620			A -> G (in dbSNP:rs2275902).		neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		GAAGAGCGAGGGCTCCTCTTG	0.468													16	16					0	0	0	0	A	79357359	G	A	79357359	2	1	443	1	0	0	0	0	0	0	0	1	5122	1219	43	4		4	ELTD1	1	79357359	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	263622	79357359	169893262	21	86682											
COL24A1	255631	broad.mit.edu	37	chr1	86362059	86362059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggcaccttgtataccttGttcccctaagagaccatctg	8	13	7	13	0	1	1	0	0	1	1	2	2	2	1	5	1	1	3	5	1	3	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:86362059G>C	ENST00000370571.2	-	29	3178	c.2812C>G	c.(2812-2814)Caa>Gaa	p.Q938E	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q938E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	938	Collagen-like 7.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGTATACCTTGTTCCCCTAAG	0.313													24	41					0	0	0	0	C	86362059	G	C	86362059	3	2	443	1	0	0	0	0	1	0	0	0	3713	1386	48	4	2460	4	COL24A1	1	86362059	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7004700	86362059	162888562	22	86683											
COL24A1	255631	broad.mit.edu	37	chr1	86591069	86591069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagacatttcctgactgaAgagaagataactgagatctt	15	10	9	7	0	1	6	0	3	1	4	2	9	2	6	1	0	1	0	1	0	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:86591069A>G	ENST00000370571.2	-	3	1316	c.950T>C	c.(949-951)cTt>cCt	p.L317P	COL24A1_ENST00000436319.1_Missense_Mutation_p.L317P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	317					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTGACTGAAGAGAAGATAA	0.378													25	43					0	0	0	0	G	86591069	A	G	86591069	3	3	443	1	0	0	0	0	1	0	0	0	3713	72	3	5	4426	5	COL24A1	1	86591069	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	229010	86591069	162659552	23	86684											
PKN2	5586	broad.mit.edu	37	chr1	89272996	89272996	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgtatttaatattttacagGattcagagactgtttttgat	11	19	8	3	0	1	2	1	1	0	1	1	4	1	3	0	1	1	2	0	1	4	9			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:89272996G>C	ENST00000370521.3	+	13	2163	c.1803_splice	c.e13-1	p.D602_splice	PKN2_ENST00000544045.1_Splice_Site_p.D276_splice|PKN2_ENST00000370513.5_Splice_Site_p.D554_splice|PKN2_ENST00000370505.3_Splice_Site_p.D445_splice	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	602					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TATTTTACAGGATTCAGAGAC	0.294													5	59					0	0	0	0	C	89272996	G	C	89272996	5	2	443	1	0	0	0	0	0	0	1	0	12052	1188	41	2	1854	2	PKN2	1	89272996	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2681927	89272996	159977625	24	86685											
GLMN	11146	broad.mit.edu	37	chr1	92733679	92733679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccaatcctttggagataaCagactcttctgttctgaaaa	13	13	6	9	0	3	3	0	1	3	2	4	4	4	3	2	1	2	1	2	1	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:92733679C>G	ENST00000370360.3	-	10	1072	c.991G>C	c.(991-993)Gtt>Ctt	p.V331L	GLMN_ENST00000534881.1_Missense_Mutation_p.V331L	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	331					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTGGAGATAACAGACTCTTCT	0.264									Multiple Glomus Tumors (of the Skin), Familial				21	35					0	0	0	0	G	92733679	C	G	92733679	3	3	443	1	0	0	0	0	1	0	0	0	6499	478	17	4	833	4	GLMN	1	92733679	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3460683	92733679	156516942	25	86686											
LPPR4	9890	broad.mit.edu	37	chr1	99762359	99762359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatggggtcggactagaGcccaacattaatgctggagg	13	7	14	7	1	0	2	0	0	0	2	1	4	0	4	1	5	3	1	1	5	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:99762359G>T	ENST00000370185.3	+	3	971	c.474G>T	c.(472-474)gaG>gaT	p.E158D	LPPR4_ENST00000457765.1_Missense_Mutation_p.E158D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		158							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCGGACTAGAGCCCAACATTA	0.458													31	57					3.99451e-17	4.75313e-17	1	0	T	99762359	G	T	99762359	3	4	443	1	0	0	0	0	1	0	0	0	8991	962	34	4	484	4	LPPR4	1	99762359	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7028680	99762359	149488262	26	86687											
PIAS3	10401	broad.mit.edu	37	chr1	145580584	145580584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcagagcaaagggtatccGgaacccagaccactcgcggg	12	4	12	13	3	1	2	1	0	0	2	3	3	2	3	3	3	2	2	3	3	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:145580584G>T	ENST00000393045.2	+	7	974	c.884G>T	c.(883-885)cGg>cTg	p.R295L	PIAS3_ENST00000369299.3_3'UTR|PIAS3_ENST00000369298.1_Missense_Mutation_p.R260L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	295					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGGGTATCCGGAACCCAGAC	0.512													13	29					9.05144e-12	1.02699e-11	1	0	T	145580584	G	T	145580584	3	4	443	1	0	0	0	0	1	0	0	0	11949	1116	39	3	910	3	PIAS3	1	145580584	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	45818225	145580584	103670037	27	86688											
ACP6	51205	broad.mit.edu	37	chr1	147131637	147131637	+	Frame_Shift_Del	DEL	C	C	-																															tcagctgcccagcaaacatgCccccctaaagtagggaagaa																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:147131637delC	ENST00000369238.5	-	3	800	c.353delG	c.(352-354)gcfs	p.G118fs	ACP6_ENST00000392988.2_Frame_Shift_Del_p.G118fs	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	118					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGCAAACATGCCCCCCTAAAG	0.498													18	30	---	---	---	---					-	147131637	C	-	147131637	7	5	443	1	0	1	0	1	0	0	0	0	165	739	26	0	965	0	ACP6	1	147131637	Frame_Shift_Del	DEL	C	TCGA-KU-A66S-01A-21D-A30E-08	1551053	147131637	102118984	28	86689											
FLG	2312	broad.mit.edu	37	chr1	152282944	152282944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctagagctgtttcgtGcctgctcatggcgggatcct	5	12	13	11	2	1	1	1	0	0	1	3	2	2	2	3	2	4	3	3	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:152282944G>C	ENST00000368799.1	-	3	4453	c.4418C>G	c.(4417-4419)gCa>gGa	p.A1473G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1473	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTTCGTGCCTGCTCATG	0.577									Ichthyosis				119	263					0	0	0	0	C	152282944	G	C	152282944	3	2	443	1	0	0	0	0	1	0	0	0	5967	1319	46	4	7771	4	FLG	1	152282944	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5151307	152282944	96967677	29	86690											
S100A7A	338324	broad.mit.edu	37	chr1	153391773	153391773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagcggcgccctgttctggGggaagccagtgatccagccc	6	6	16	13	2	1	1	0	1	1	0	2	3	2	3	4	4	3	1	4	4	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:153391773G>A	ENST00000368729.4	+	3	351	c.294G>A	c.(292-294)ggG>ggA	p.G98G	S100A7A_ENST00000368728.2_Silent_p.G98G|S100A7A_ENST00000329256.2_Silent_p.G98G	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	98						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGTTCTGGGGGAAGCCAGT	0.527													20	41					0	0	0	0	A	153391773	G	A	153391773	2	1	443	1	0	0	0	0	0	0	0	1	13869	1219	43	4		4	S100A7A	1	153391773	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1108829	153391773	95858848	30	86691											
ILF2	3608	broad.mit.edu	37	chr1	153640104	153640104	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgtcccctttttataGgatcccacctgtcgaacttc	7	15	6	13	1	1	0	1	0	0	0	5	2	3	1	4	1	1	0	4	1	3	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:153640104G>C	ENST00000361891.4	-	6	446	c.321C>G	c.(319-321)tcC>tcG	p.S107S	ILF2_ENST00000368681.1_Silent_p.S107S	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	107	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTTTTATAGGATCCCACCT	0.453													29	218					0	0	0	0	C	153640104	G	C	153640104	2	2	443	1	0	0	0	0	0	0	0	1	7764	987	35	4		4	ILF2	1	153640104	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	248331	153640104	95610517	31	86692											
ATP8B2	57198	broad.mit.edu	37	chr1	154306600	154306600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtgaagtgatctgtgaaCctcccaacaacaaactggac	14	7	9	11	0	1	3	0	3	1	0	2	4	2	4	2	2	4	0	2	2	5	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:154306600C>T	ENST00000368489.3	+	10	706	c.706C>T	c.(706-708)Cct>Tct	p.P236S	ATP8B2_ENST00000368487.3_Missense_Mutation_p.P203S|ATP8B2_ENST00000341822.2_Missense_Mutation_p.P222S|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	222					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATCTGTGAACCTCCCAACAA	0.463													136	202					0	0	0	0	T	154306600	C	T	154306600	3	4	443	1	0	0	0	0	1	0	0	0	1199	507	18	4	744	4	ATP8B2	1	154306600	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	666496	154306600	94944021	32	86693											
PBXIP1	57326	broad.mit.edu	37	chr1	154923955	154923955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatctcctcaccttgacctCagtctcctctgttagaatgc	9	13	5	14	0	5	2	2	1	3	1	7	2	5	2	4	0	1	1	4	0	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:154923955C>G	ENST00000368463.3	-	4	306	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.E79Q|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E50Q|PBXIP1_ENST00000498553.1_5'UTR	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	79					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCTTGACCTCAGTCTCCTCT	0.577													6	128					0	0	0	0	G	154923955	C	G	154923955	3	3	443	1	0	0	0	0	1	0	0	0	11567	835	29	2	1992	2	PBXIP1	1	154923955	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	617355	154923955	94326666	33	86694											
OR10Z1	128368	broad.mit.edu	37	chr1	158576928	158576928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccctctgctgaggggCagaagaaggccttctccact	8	8	12	13	0	2	3	0	1	2	2	4	4	3	4	4	4	1	2	4	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:158576928C>A	ENST00000361284.1	+	1	700	c.700C>A	c.(700-702)Cag>Aag	p.Q234K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTGAGGGGCAGAAGAAGGC	0.512													56	97					1.0442e-30	1.29473e-30	1	0	A	158576928	C	A	158576928	3	1	443	1	0	0	0	0	1	0	0	0	10994	711	25	4	702	4	OR10Z1	1	158576928	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3652973	158576928	90673693	34	86695											
FCRL6	343413	broad.mit.edu	37	chr1	159778940	159778940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaactctgcatcccgggagCcaaggagggagactctgggc	10	5	15	11	1	2	2	0	0	2	2	3	5	3	4	2	4	3	1	2	4	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159778940C>A	ENST00000321935.6	+	5	616	c.530C>A	c.(529-531)gCc>gAc	p.A177D	FCRL6_ENST00000339348.5_Missense_Mutation_p.A170D|FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.A170D			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	170	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ATCCCGGGAGCCAAGGAGGGA	0.632													27	52					7.41945e-09	8.22061e-09	1	0	A	159778940	C	A	159778940	3	1	443	1	0	0	0	0	1	0	0	0	5844	739	26	4	523	4	FCRL6	1	159778940	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1202012	159778940	89471681	35	86696											
TAGLN2	8407	broad.mit.edu	37	chr1	159889093	159889093	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttgggatccccagagaaGagcccatcatctcgggctac	10	7	11	13	1	2	2	1	0	1	2	4	4	3	3	3	2	2	2	3	2	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159889093G>C	ENST00000368097.4	-	4	739	c.429C>G	c.(427-429)ctC>ctG	p.L143L	TAGLN2_ENST00000368096.1_Silent_p.L164L|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Silent_p.L143L	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	143					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCAGAGAAGAGCCCATCAT	0.552													9	102					0	0	0	0	C	159889093	G	C	159889093	2	2	443	1	0	0	0	0	0	0	0	1	15630	929	33	2		2	TAGLN2	1	159889093	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	110153	159889093	89361528	36	86697											
IGSF9	57549	broad.mit.edu	37	chr1	159912857	159912857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacatgcagggggggccggCcggccgggggcagcaggtca	6	3	21	11	3	1	1	1	1	0	0	1	1	1	1	3	8	2	3	3	8	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159912857C>G	ENST00000368094.1	-	3	340	c.143G>C	c.(142-144)gGc>gCc	p.G48A	IGSF9_ENST00000361509.3_Missense_Mutation_p.G48A	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	48	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ggggggccggccggccggggg	0.642													14	21					0	0	0	0	G	159912857	C	G	159912857	3	3	443	1	0	0	0	0	1	0	0	0	7658	739	26	4	3472	4	IGSF9	1	159912857	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	23764	159912857	89337764	37	86698											
TOMM40L	84134	broad.mit.edu	37	chr1	161198034	161198034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctggtgctgggaggagaGctagtttatcaccggcggcc	6	8	17	10	3	1	1	1	0	0	1	1	3	1	2	2	6	2	4	2	6	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:161198034G>A	ENST00000367988.3	+	7	812	c.543G>A	c.(541-543)gaG>gaA	p.E181E	TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Silent_p.E147E|TOMM40L_ENST00000367987.1_Silent_p.E181E	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	181					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGGAGGAGAGCTAGTTTATC	0.582											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	34					0	0	0	0	A	161198034	G	A	161198034	2	1	443	1	0	0	0	0	0	0	0	1	16453	962	34	4		4	TOMM40L	1	161198034	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1285177	161198034	88052587	38	86699											
PBX1	5087	broad.mit.edu	37	chr1	164776830	164776830	+	Frame_Shift_Del	DEL	T	T	-																															acagaaatcctgaatgaataTttctattcccatctcagcaa																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:164776830delT	ENST00000420696.2	+	5	941	c.753delT	c.(751-753)tafs	p.Y251fs	PBX1_ENST00000560641.1_Frame_Shift_Del_p.Y146fs|PBX1_ENST00000559240.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000367897.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000540246.1_Frame_Shift_Del_p.Y146fs|PBX1_ENST00000540236.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000401534.1_Frame_Shift_Del_p.Y251fs	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	251					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGAATGAATATTTCTATTCCC	0.433			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								37	159	---	---	---	---					-	164776830	T	-	164776830	7	5	443	1	0	1	0	1	0	0	0	0	11563	1500	52	0	771	0	PBX1	1	164776830	Frame_Shift_Del	DEL	T	TCGA-KU-A66S-01A-21D-A30E-08	3578796	164776830	84473791	39	86700											
LMX1A	4009	broad.mit.edu	37	chr1	165218793	165218793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcagcagaagcagctcagGtggtatacactcttctgggc	10	8	12	11	0	3	1	1	0	2	1	3	1	3	1	0	3	5	5	0	3	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:165218793G>T	ENST00000342310.3	-	4	730	c.348C>A	c.(346-348)caC>caA	p.H116Q	LMX1A_ENST00000367893.4_Missense_Mutation_p.H116Q|LMX1A_ENST00000294816.2_Missense_Mutation_p.H116Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	116	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGCAGCTCAGGTGGTATACAC	0.552													21	26					1.55795e-14	1.81121e-14	1	0	T	165218793	G	T	165218793	3	4	443	1	0	0	0	0	1	0	0	0	8916	1252	44	4	824	4	LMX1A	1	165218793	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	441963	165218793	84031828	40	86701											
PAPPA2	60676	broad.mit.edu	37	chr1	176668450	176668450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctttgacacagagatcttGctggaaaacaaggagtcagt	13	10	10	8	0	3	2	1	1	2	1	3	5	3	4	0	2	2	1	0	2	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:176668450G>T	ENST00000367662.3	+	8	4125	c.2961G>T	c.(2959-2961)ttG>ttT	p.L987F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	987					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGAGATCTTGCTGGAAAACA	0.557													84	119					2.68325e-40	3.36834e-40	1	0	T	176668450	G	T	176668450	3	4	443	1	0	0	0	0	1	0	0	0	11504	1310	46	4	3040	4	PAPPA2	1	176668450	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	11449657	176668450	72582171	41	86702											
CACNA1E	777	broad.mit.edu	37	chr1	181686385	181686385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgtggcactcaacactgCctgtgtggccattgtccatc	6	12	9	14	0	1	0	1	0	0	0	3	0	2	0	4	2	2	1	4	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:181686385C>G	ENST00000526775.1	+	11	1637	c.1472C>G	c.(1471-1473)gCc>gGc	p.A491G	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A491G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A442G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A442G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A491G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A491G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A98G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	491					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCAACACTGCCTGTGTGGCC	0.542													7	85					0	0	0	0	G	181686385	C	G	181686385	3	3	443	1	0	0	0	0	1	0	0	0	2567	739	26	4	1514	4	CACNA1E	1	181686385	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	5017935	181686385	67564236	42	86703											
FAM129A	116496	broad.mit.edu	37	chr1	184792874	184792874	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccatcaccaggttactcagGatctgcgcagcagaagacag	12	7	10	12	1	3	2	2	0	1	2	4	3	4	3	2	2	3	3	2	2	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:184792874G>C	ENST00000367511.3	-	7	913	c.720C>G	c.(718-720)atC>atG	p.I240M	FAM129A_ENST00000487074.1_Intron	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	240					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGTTACTCAGGATCTGCGCAG	0.542													9	39					0	0	0	0	C	184792874	G	C	184792874	3	2	443	1	0	0	0	0	1	0	0	0	5477	1164	41	2	2098	2	FAM129A	1	184792874	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3106489	184792874	64457747	43	86704											
CRB1	23418	broad.mit.edu	37	chr1	197390551	197390551	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgaagcaacagggatgtGtttgtgaagctggagctgct	9	11	14	7	1	0	1	0	1	0	0	1	4	1	3	1	2	5	5	1	2	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:197390551G>C	ENST00000367400.3	+	6	1728	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Silent_p.V531V|CRB1_ENST00000367399.2_Silent_p.V419V|CRB1_ENST00000544212.1_Silent_p.V12V|CRB1_ENST00000535699.1_Silent_p.V462V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.V230V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	531	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGGGATGTGTTTGTGAAGC	0.463													12	80					0	0	0	0	C	197390551	G	C	197390551	2	2	443	1	0	0	0	0	0	0	0	1	3878	1364	48	4		4	CRB1	1	197390551	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	12597677	197390551	51860070	44	86705											
KIF21B	23046	broad.mit.edu	37	chr1	200969636	200969636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccccgaaggccggggCggctggagaagcacccaggg	7	2	18	14	3	0	1	0	0	0	1	0	3	0	1	4	6	2	3	4	6	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:200969636C>A	ENST00000332129.2	-	11	1883	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	KIF21B_ENST00000422435.2_Missense_Mutation_p.A523S|KIF21B_ENST00000360529.5_Missense_Mutation_p.A523S|KIF21B_ENST00000461742.2_Missense_Mutation_p.A523S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	523					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGGCCGGGGCGGCTGGAGAA	0.652													36	77					1.60099e-16	1.89866e-16	1	0	A	200969636	C	A	200969636	3	1	443	1	0	0	0	0	1	0	0	0	8340	768	27	3	3403	3	KIF21B	1	200969636	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3579085	200969636	48280985	45	86706											
KDM5B	10765	broad.mit.edu	37	chr1	202724560	202724560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actggcatgttgttcaaattCcagccactatcaagatactc	12	12	6	11	0	2	1	2	0	0	1	4	1	3	1	2	1	2	3	2	1	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:202724560C>A	ENST00000367265.3	-	11	2541	c.1377G>T	c.(1375-1377)tgG>tgT	p.W459C	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.W495C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	459	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGTTCAAATTCCAGCCACTAT	0.378													5	92					0.00307968	0.00317844	1	0	A	202724560	C	A	202724560	3	1	443	1	0	0	0	0	1	0	0	0	8186	856	30	2	3325	2	KDM5B	1	202724560	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1754924	202724560	46526061	46	86707											
IARS2	55699	broad.mit.edu	37	chr1	220279318	220279318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaaatcatgtgaccatGgcaaaaggaacgggattggt	13	8	12	8	1	1	1	1	1	0	0	1	3	1	3	2	4	2	2	2	4	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:220279318G>T	ENST00000366922.1	+	9	1267	c.936G>T	c.(934-936)atG>atT	p.M312I	IARS2_ENST00000302637.5_Missense_Mutation_p.M384I			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	384					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATGTGACCATGGCAAAAGGAA	0.463													34	54					9.65021e-13	1.10556e-12	1	0	T	220279318	G	T	220279318	3	4	443	1	0	0	0	0	1	0	0	0	7527	1348	47	4	1186	4	IARS2	1	220279318	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	17554758	220279318	28971303	47	86708											
OBSCN	84033	broad.mit.edu	37	chr1	228559510	228559510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagcttccatccactGgtggccacccaggcactgct	8	7	9	17	0	0	0	0	0	0	0	2	0	2	0	5	3	3	4	5	3	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:228559510G>C	ENST00000570156.2	+	105	23976	c.23902G>C	c.(23902-23904)Ggt>Cgt	p.G7968R	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4645R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G7011R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7011					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCATCCACTGGTGGCCACCC	0.697													6	50					0	0	0	0	C	228559510	G	C	228559510	3	2	443	1	0	0	0	0	1	0	0	0	10883	1348	47	4	22611	4	OBSCN	1	228559510	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8280192	228559510	20691111	48	86709											
ACTA1	58	broad.mit.edu	37	chr1	229567637	229567637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtctcgtgaatgcccGccgactccatacctggggac	7	8	13	13	3	1	1	0	1	1	0	3	3	2	2	4	4	2	0	4	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:229567637G>C	ENST00000366684.3	-	6	923	c.821C>G	c.(820-822)gCg>gGg	p.A274G	ACTA1_ENST00000366683.2_Missense_Mutation_p.A186G	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	274			A -> E (in NEM3).		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			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)	GTGAATGCCCGCCGACTCCAT	0.682													14	112					0	0	0	0	C	229567637	G	C	229567637	3	2	443	1	0	0	0	0	1	0	0	0	191	1087	38	3	320	3	ACTA1	1	229567637	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1008127	229567637	19682984	49	86710											
FMN2	56776	broad.mit.edu	37	chr1	240256745	240256745	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccccaggatcaagaggCggccggaaccctccctgagc	10	3	13	15	2	1	3	1	1	0	2	2	5	2	5	5	4	3	0	5	4	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:240256745C>A	ENST00000319653.9	+	1	1566	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	446					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATCAAGAGGCGGCCGGAACC	0.687													27	54					1.77063e-15	2.07895e-15	1	0	A	240256745	C	A	240256745	2	1	443	1	0	0	0	0	0	0	0	1	5995	759	27	3		3	FMN2	1	240256745	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	10689108	240256745	8993876	50	86711											
FH	2271	broad.mit.edu	37	chr1	241680534	241680534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttcatcgtagatctcacgGtctgggcgccataatactta	10	12	9	10	3	3	1	2	0	2	1	5	1	3	1	1	2	1	2	1	2	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:241680534G>C	ENST00000366560.3	-	2	253	c.215C>G	c.(214-216)aCc>aGc	p.T72S	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	72					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGATCTCACGGTCTGGGCGCC	0.418			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				9	75					0	0	0	0	C	241680534	G	C	241680534	3	2	443	1	0	0	0	0	1	0	0	0	5920	1261	44	4	1353	4	FH	1	241680534	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1423789	241680534	7570087	51	86712											
OR2M3	127062	broad.mit.edu	37	chr1	248366917	248366917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcttctgtgacttcccctCcctactaatcctctcatgca	6	15	3	17	0	3	1	1	1	3	0	7	1	6	1	4	0	2	1	4	0	2	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:248366917C>G	ENST00000456743.1	+	1	586	c.548C>G	c.(547-549)tCc>tGc	p.S183C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACTTCCCCTCCCTACTAATC	0.413													5	278					0	0	0	0	G	248366917	C	G	248366917	3	3	443	1	0	0	0	0	1	0	0	0	11082	855	30	2	550	2	OR2M3	1	248366917	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6686383	248366917	883704	52	86713											
OR2T11	127077	broad.mit.edu	37	chr1	248789965	248789965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggtgatgggagtgagCagaaagccatcgagggagcc	11	7	16	7	1	1	3	1	2	0	1	2	6	1	5	2	3	3	1	2	3	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:248789965C>T	ENST00000330803.2	-	1	526	c.465G>A	c.(463-465)ctG>ctA	p.L155L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGAGTGAGCAGAAAGCCAT	0.522													29	37					0	0	0	0	T	248789965	C	T	248789965	2	4	443	1	0	0	0	0	0	0	0	1	11089	697	25	4		4	OR2T11	1	248789965	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	423048	248789965	460656	53	86714											
PXDN	7837	broad.mit.edu	37	chr2	1652399	1652399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgccggggtcgtagccGtggtactctcccagcgtcct	4	11	13	13	4	1	1	0	1	1	0	4	1	2	1	4	3	4	2	4	3	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:1652399G>A	ENST00000252804.4	-	17	3203	c.3153C>T	c.(3151-3153)caC>caT	p.H1051H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1051					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTCGTAGCCGTGGTACTCTC	0.622													4	24					0	0	0	0	A	1652399	G	A	1652399	2	1	443	1	0	0	0	0	0	0	0	1	12929	1136	40	1		1	PXDN	2	1652399	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		1652399	241546974	54	86715											
MYT1L	23040	broad.mit.edu	37	chr2	1926596	1926596	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcatcgctctcctcCaccatcttttccatgagtcc	6	13	3	19	1	3	1	1	1	2	0	9	1	7	1	7	0	0	1	7	0	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:1926596C>G	ENST00000399161.2	-	10	1692	c.945G>C	c.(943-945)gtG>gtC	p.V315V	MYT1L_ENST00000428368.2_Silent_p.V315V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	315					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGCTCTCCTCCACCATCTTTT	0.502													6	104					0	0	0	0	G	1926596	C	G	1926596	2	3	443	1	0	0	0	0	0	0	0	1	10177	581	21	4		4	MYT1L	2	1926596	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	274197	1926596	241272777	55	86716											
APOB	338	broad.mit.edu	37	chr2	21236290	21236290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagacttgaagtggagggCtggtgtcctaacagtctcta	10	10	12	9	0	1	2	0	1	1	1	3	3	2	3	1	3	1	1	1	3	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:21236290C>G	ENST00000233242.1	-	25	4085	c.3958G>C	c.(3958-3960)Gcc>Ccc	p.A1320P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1320					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1320S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGTGGAGGGCTGGTGTCCTA	0.438													6	78					0	0	0	0	G	21236290	C	G	21236290	3	3	443	1	0	0	0	0	1	0	0	0	787	797	28	4	9753	4	APOB	2	21236290	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	19309694	21236290	221963083	56	86717											
LTBP1	4052	broad.mit.edu	37	chr2	33588469	33588469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtagatgcagatgaatGcctactttttggacaagaaa	13	10	9	9	1	0	4	0	1	0	3	0	5	0	5	3	1	3	2	3	1	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:33588469G>A	ENST00000404816.2	+	29	4636	c.4283G>A	c.(4282-4284)tGc>tAc	p.C1428Y	LTBP1_ENST00000402934.1_Missense_Mutation_p.C1047Y|LTBP1_ENST00000272273.5_Missense_Mutation_p.C326Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.C1429Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1103Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1049Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1060Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.C1102Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1428	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCAGATGAATGCCTACTTTTT	0.383													17	36					0	0	0	0	A	33588469	G	A	33588469	3	1	443	1	0	0	0	0	1	0	0	0	9137	1319	46	4	4452	4	LTBP1	2	33588469	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	12352179	33588469	209610904	57	86718											
CYP1B1	1545	broad.mit.edu	37	chr2	38302272	38302272	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcagctgcccaggcggAtctggaaaacgtcgccgtag	8	6	16	11	4	1	0	0	0	1	0	2	2	1	2	2	5	3	3	2	5	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:38302272A>C	ENST00000260630.3	-	2	661	c.260T>G	c.(259-261)aTc>aGc	p.I87S	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.I87S	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	87					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GCCCAGGCGGATCTGGAAAAC	0.711													4	5					0	0	0	0	C	38302272	A	C	38302272	3	2	443	1	0	0	0	0	1	0	0	0	4183	333	12	5	1379	5	CYP1B1	2	38302272	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	4713803	38302272	204897101	58	86719											
ALMS1	7840	broad.mit.edu	37	chr2	73678013	73678013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctacctgaagaggctttGgaagtttcagttgctcctgg	8	13	11	9	0	2	2	1	1	1	1	3	3	3	3	2	3	2	4	2	3	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:73678013G>T	ENST00000264448.6	+	8	4467	c.4356G>T	c.(4354-4356)ttG>ttT	p.L1452F	ALMS1_ENST00000409009.1_Missense_Mutation_p.L1410F|ALMS1_ENST00000377715.1_Missense_Mutation_p.L1452F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1452	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				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						AAGAGGCTTTGGAAGTTTCAG	0.473													78	111					5.02462e-34	6.27413e-34	1	0	T	73678013	G	T	73678013	3	4	443	1	0	0	0	0	1	0	0	0	535	1339	47	4	4386	4	ALMS1	2	73678013	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	35375741	73678013	169521360	59	86720											
TET3	200424	broad.mit.edu	37	chr2	74273794	74273794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggctgctctgctggcagCgaagaccttgacacactgca	9	7	13	12	1	1	2	0	1	1	1	1	4	1	2	1	2	4	5	1	2	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:74273794C>G	ENST00000409262.3	+	1	345	c.345C>G	c.(343-345)agC>agG	p.S115R		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	115							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCTGGCAGCGAAGACCTTG	0.627													6	74					0	0	0	0	G	74273794	C	G	74273794	3	3	443	1	0	0	0	0	1	0	0	0	15865	767	27	3	347	3	TET3	2	74273794	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	595781	74273794	168925579	60	86721											
DQX1	165545	broad.mit.edu	37	chr2	74752215	74752215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccagggtcaggtccatctCatcagcaacccgcagagcca	11	5	9	16	1	3	1	3	0	1	1	5	1	4	1	4	2	3	2	4	2	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:74752215C>G	ENST00000404568.3	-	3	571	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	DQX1_ENST00000393951.2_Missense_Mutation_p.E118Q	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	118	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGTCCATCTCATCAGCAACC	0.617													10	85					0	0	0	0	G	74752215	C	G	74752215	3	3	443	1	0	0	0	0	1	0	0	0	4787	835	29	2	1841	2	DQX1	2	74752215	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	478421	74752215	168447158	61	86722											
SNRNP200	23020	broad.mit.edu	37	chr2	96951035	96951035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcccgctgcccgtgggggcCcccacaaacacgttgtcgtc	5	8	11	17	4	0	0	0	0	0	0	3	0	1	0	4	2	2	2	4	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:96951035C>T	ENST00000323853.5	-	30	4124	c.4047G>A	c.(4045-4047)ggG>ggA	p.G1349G	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1349	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCGTGGGGGCCCCCACAAACA	0.527													32	68					0	0	0	0	T	96951035	C	T	96951035	2	4	443	1	0	0	0	0	0	0	0	1	14940	610	22	4		4	SNRNP200	2	96951035	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	22198820	96951035	146248338	62	86723											
VWA3B	200403	broad.mit.edu	37	chr2	98920189	98920189	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgccctcggagtgcacttAttaagatcagccaaaacaag	13	10	8	10	1	1	1	1	0	0	1	2	2	1	2	2	1	4	1	2	1	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:98920189A>T	ENST00000477737.1	+	26	3649	c.3445A>T	c.(3445-3447)Att>Ttt	p.I1149F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1149										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGTGCACTTATTAAGATCAG	0.383													17	22					0	0	0	0	T	98920189	A	T	98920189	3	4	443	1	0	0	0	0	1	0	0	0	17337	449	16	5	3543	5	VWA3B	2	98920189	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	1969154	98920189	144279184	63	86724											
CREG2	200407	broad.mit.edu	37	chr2	101971791	101971791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccagtgagcgttaactGgacacatcggggatcttccg	8	9	13	11	3	1	1	0	1	1	0	3	3	2	3	2	4	2	1	2	4	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:101971791G>C	ENST00000324768.4	-	3	786	c.649C>G	c.(649-651)Cag>Gag	p.Q217E		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	217						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGCGTTAACTGGACACATCGG	0.398													6	27					0	0	0	0	C	101971791	G	C	101971791	3	2	443	1	0	0	0	0	1	0	0	0	3895	1357	47	4	231	4	CREG2	2	101971791	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3051602	101971791	141227582	64	86725											
STEAP3	55240	broad.mit.edu	37	chr2	120012260	120012260	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccttccatccatgtcagGtcttggccaacaagagccac	9	11	7	14	0	2	1	1	0	1	1	5	1	5	1	5	2	2	0	5	2	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:120012260G>C	ENST00000354888.5	+	5	1525	c.1020_splice	c.e5-1	p.V341_splice	STEAP3_ENST00000393110.2_Splice_Site_p.V351_splice|STEAP3_ENST00000393106.2_Splice_Site_p.V341_splice|STEAP3_ENST00000450943.2_Splice_Site_p.V341_splice|STEAP3_ENST00000393108.2_Splice_Site_p.V341_splice|STEAP3_ENST00000409811.1_Splice_Site_p.V341_splice|STEAP3_ENST00000393107.2_Splice_Site_p.V341_splice|STEAP3_ENST00000425223.2_Splice_Site_p.V341_splice	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	341	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCCATGTCAGGTCTTGGCCAA	0.597													9	59					0	0	0	0	C	120012260	G	C	120012260	5	2	443	1	0	0	0	0	0	0	1	0	15369	1275	44	4	1065	4	STEAP3	2	120012260	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	18040469	120012260	123187113	65	86726											
TMEM177	80775	broad.mit.edu	37	chr2	120439004	120439004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtgccaagtacaccctggGgctccatgcaggccccatga	8	6	13	14	0	0	1	0	1	0	0	1	1	1	1	5	4	3	3	5	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:120439004G>T	ENST00000424086.1	+	2	1048	c.575G>T	c.(574-576)gGg>gTg	p.G192V	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.G192V|TMEM177_ENST00000401466.1_Missense_Mutation_p.G192V|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	192						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TACACCCTGGGGCTCCATGCA	0.627													19	25					2.35188e-11	2.65571e-11	1	0	T	120439004	G	T	120439004	3	4	443	1	0	0	0	0	1	0	0	0	16188	1232	43	4	577	4	TMEM177	2	120439004	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	426744	120439004	122760369	66	86727											
NCKAP5	344148	broad.mit.edu	37	chr2	133971304	133971304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccatggccccctcacttGttctttgggcaacttctcgc	5	14	7	15	1	3	0	1	0	2	0	4	0	3	0	3	2	2	2	3	2	2	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:133971304G>T	ENST00000409261.1	-	5	564	c.191C>A	c.(190-192)aCa>aAa	p.T64K	NCKAP5_ENST00000405974.3_Missense_Mutation_p.T64K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T64K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.T64K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	64							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCCTCACTTGTTCTTTGGGC	0.488													12	20					0.0167234	0.0170117	1	0	T	133971304	G	T	133971304	3	4	443	1	0	0	0	0	1	0	0	0	10293	1377	48	4	5602	4	NCKAP5	2	133971304	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	13532300	133971304	109228069	67	86728											
R3HDM1	23518	broad.mit.edu	37	chr2	136467716	136467716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgtgcccactcaccccCgcagtggaaacaaaacaaat	14	7	6	14	1	2	0	1	0	1	0	2	1	2	1	3	1	3	1	3	1	4	1	rs145608320		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:136467716C>A	ENST00000264160.4	+	22	2916	c.2546C>A	c.(2545-2547)cCg>cAg	p.P849Q	R3HDM1_ENST00000410054.1_Missense_Mutation_p.P794Q|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P720Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P850Q|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P721Q	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	849							nucleic acid binding	p.P849L(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)		CACTCACCCCCGCAGTGGAAA	0.468											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	45					2.09667e-21	2.56823e-21	1	0	A	136467716	C	A	136467716	3	1	443	1	0	0	0	0	1	0	0	0	12969	652	23	3	2624	3	R3HDM1	2	136467716	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2496412	136467716	106731657	68	86729											
LCT	3938	broad.mit.edu	37	chr2	136566390	136566390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctaagtgctgcagttcaCtcctgttccccactttccac	6	13	7	15	0	1	0	1	0	0	0	4	0	4	0	4	1	2	5	4	1	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:136566390C>G	ENST00000264162.2	-	8	3537	c.3527G>C	c.(3526-3528)aGt>aCt	p.S1176T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1176	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGCAGTTCACTCCTGTTCCC	0.552													15	118					0	0	0	0	G	136566390	C	G	136566390	3	3	443	1	0	0	0	0	1	0	0	0	8746	565	20	4	2296	4	LCT	2	136566390	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	98674	136566390	106632983	69	86730											
KCNJ3	3760	broad.mit.edu	37	chr2	155555414	155555414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttgtgcccaagaagaagCggcagcggttcgtggacaag	11	6	15	9	3	0	2	0	0	0	2	1	3	0	3	1	3	4	3	1	3	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:155555414C>T	ENST00000295101.2	+	1	604	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	KCNJ3_ENST00000544049.1_Missense_Mutation_p.R43W	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	43					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAAGAAGAAGCGGCAGCGGTT	0.632													6	64					0	0	0	0	T	155555414	C	T	155555414	3	4	443	1	0	0	0	0	1	0	0	0	8105	759	27	1	129	1	KCNJ3	2	155555414	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	18989024	155555414	87643959	70	86731											
PLA2R1	22925	broad.mit.edu	37	chr2	160806213	160806213	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcaaaaacgcagtcaccaagGagggaggactcctcatcttt	13	7	10	11	1	3	0	2	0	1	0	4	3	4	3	2	3	1	2	2	3	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:160806213G>C	ENST00000283243.7	-	25	3821	c.3615C>G	c.(3613-3615)ctC>ctG	p.L1205L	PLA2R1_ENST00000392771.1_Silent_p.L1205L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1205	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTCACCAAGGAGGGAGGACT	0.488													3	48					0	0	0	0	C	160806213	G	C	160806213	2	2	443	1	0	0	0	0	0	0	0	1	12082	1161	41	2		2	PLA2R1	2	160806213	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5250799	160806213	82393160	71	86732											
SCN1A	6323	broad.mit.edu	37	chr2	166848756	166848756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaacatgactaggaagaGtaggaggccgatgttaaaca	16	7	13	5	1	0	3	0	2	0	1	0	7	0	5	1	3	2	2	1	3	6	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:166848756G>T	ENST00000423058.2	-	26	5046	c.5029C>A	c.(5029-5031)Ctc>Atc	p.L1677I	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1649I|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1677I|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1666I|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1677						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTAGGAAGAGTAGGAGGCCG	0.478													49	81					2.64514e-33	3.29131e-33	1	0	T	166848756	G	T	166848756	3	4	443	1	0	0	0	0	1	0	0	0	14001	1029	36	4	1004	4	SCN1A	2	166848756	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6042543	166848756	76350617	72	86733											
SCN7A	6332	broad.mit.edu	37	chr2	167298231	167298231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcaaaatctggaatgttGgccaatactttcccaacttg	13	12	6	10	0	2	0	1	0	1	0	3	1	3	1	2	2	2	1	2	2	6	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:167298231G>T	ENST00000409855.1	-	14	1958	c.1832C>A	c.(1831-1833)cCa>cAa	p.P611Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	611					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTGGAATGTTGGCCAATACTT	0.363													30	31					1.30897e-18	1.57343e-18	1	0	T	167298231	G	T	167298231	3	4	443	1	0	0	0	0	1	0	0	0	14010	1348	47	4	3264	4	SCN7A	2	167298231	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	449475	167298231	75901142	73	86734											
XIRP2	129446	broad.mit.edu	37	chr2	168102265	168102265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttaaaacatctacttggCtatttgaaacccacactatg	14	13	5	9	0	1	1	0	1	1	0	1	1	1	1	1	1	3	2	1	1	6	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:168102265C>G	ENST00000409195.1	+	9	4452	c.4363C>G	c.(4363-4365)Cta>Gta	p.L1455V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1233V|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1455V|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1280					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCTACTTGGCTATTTGAAAC	0.338													37	35					0	0	0	0	G	168102265	C	G	168102265	3	3	443	1	0	0	0	0	1	0	0	0	17526	796	28	4	4393	4	XIRP2	2	168102265	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	804034	168102265	75097108	74	86735											
TTN	7273	broad.mit.edu	37	chr2	179433972	179433972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taattttttattttggatccCccatccaacaaaggaggttc	11	15	6	9	0	0	0	0	0	0	0	3	2	2	2	3	3	1	1	3	3	4	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179433972C>T	ENST00000589042.1	-	326	77111	c.76887G>A	c.(76885-76887)ggG>ggA	p.G25629G	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.G16689G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G23988G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.G16756G|TTN_ENST00000342992.6_Silent_p.G23061G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.G16564G|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23988							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGATCCCCCATCCAACA	0.398													92	142					0	0	0	0	T	179433972	C	T	179433972	2	4	443	1	0	0	0	0	0	0	0	1	16831	610	22	4		4	TTN	2	179433972	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	11331707	179433972	63765401	75	86736											
TTN	7273	broad.mit.edu	37	chr2	179435320	179435320	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggccttcagtatgtaatttCcactgtcgacacgtactgca	9	13	8	11	2	1	0	1	0	0	0	3	1	2	0	2	1	2	4	2	1	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179435320C>G	ENST00000589042.1	-	326	75763	c.75539G>C	c.(75538-75540)gGa>gCa	p.G25180A	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16240A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23539A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16307A|TTN_ENST00000342992.6_Missense_Mutation_p.G22612A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16115A|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23539	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGTAATTTCCACTGTCGAC	0.443													4	42					0	0	0	0	G	179435320	C	G	179435320	3	3	443	1	0	0	0	0	1	0	0	0	16831	855	30	2	32588	2	TTN	2	179435320	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1348	179435320	63764053	76	86737											
TTN	7273	broad.mit.edu	37	chr2	179437943	179437943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggtaggacttggtgcacTaattccagcagcattttcag	10	12	10	9	0	1	0	1	0	0	0	2	1	2	1	1	3	3	4	1	3	2	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179437943T>C	ENST00000589042.1	-	326	73140	c.72916A>G	c.(72916-72918)Agt>Ggt	p.S24306G	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15366G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22665G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15433G|TTN_ENST00000342992.6_Missense_Mutation_p.S21738G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15241G|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22665	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGGTGCACTAATTCCAGCA	0.413													34	60					0	0	0	0	C	179437943	T	C	179437943	3	2	443	1	0	0	0	0	1	0	0	0	16831	1522	53	5	35211	5	TTN	2	179437943	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	2623	179437943	63761430	77	86738											
TTN	7273	broad.mit.edu	37	chr2	179441372	179441372	+	Missense_Mutation	SNP	T	T	C																															cttcttgcagtcctgttactTtgcacctgagatcggaaact																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179441372T>C	ENST00000589042.1	-	325	69823	c.69599A>G	c.(69598-69600)aAa>aGa	p.K23200R	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14260R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21559R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14327R|TTN_ENST00000342992.6_Missense_Mutation_p.K20632R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14135R|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21559	Fibronectin type-III 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGTTACTTTGCACCTGAG	0.468													91	165					0	0	0	0	C	179441372	T	C	179441372	3	2	443	1	0	0	0	0	1	0	0	0	16831	1841	64	5	38532	5	TTN	2	179441372	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	3429	179441372	63758001	78	86739	1083	2									
TTN	7273	broad.mit.edu	37	chr2	179441374	179441374	+	Nonsense_Mutation	SNP	G	G	T																															tcttgcagtcctgttactttGcacctgagatcggaaactgg																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179441374G>T	ENST00000589042.1	-	325	69821	c.69597C>A	c.(69595-69597)tgC>tgA	p.C23199*	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.C14259*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.C21558*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.C14326*|TTN_ENST00000342992.6_Nonsense_Mutation_p.C20631*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.C14134*|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21558	Fibronectin type-III 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTACTTTGCACCTGAGAT	0.463													94	167					1.45819e-31	1.81123e-31	1	0	T	179441374	G	T	179441374	4	4	443	1	0	0	0	0	0	1	0	0	16831	1311	46	4	38534	4	TTN	2	179441374	Nonsense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2	179441374	63757999	79	86740	1083	2									
TTN	7273	broad.mit.edu	37	chr2	179452804	179452804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagccttcatcaggagaCgcatctgctatttttggtct	7	15	8	11	1	4	1	2	0	2	1	5	2	5	1	2	2	2	2	2	2	1	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179452804C>T	ENST00000589042.1	-	305	63554	c.63330G>A	c.(63328-63330)gcG>gcA	p.A21110A	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.A12170A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A19469A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.A12237A|TTN_ENST00000342992.6_Silent_p.A18542A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.A12045A|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19469	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAGGAGACGCATCTGCTA	0.453													4	50					0	0	0	0	T	179452804	C	T	179452804	2	4	443	1	0	0	0	0	0	0	0	1	16831	523	19	1		1	TTN	2	179452804	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	11430	179452804	63746569	80	86741											
TTN	7273	broad.mit.edu	37	chr2	179486220	179486221	+	Frame_Shift_Ins	INS	-	-	A																															ccatgtactttgactttgccINSatcggttcgagagcttggga																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179486220_179486221insA	ENST00000589042.1	-	245	45554_45555	c.45330_45331insT	c.(45328-45333)gagcaafs	p.EQ15110fs	TTN_ENST00000359218.5_Frame_Shift_Ins_p.EQ6170fs|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.EQ6237fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.EQ12542fs|TTN_ENST00000591111.1_Frame_Shift_Ins_p.EQ13469fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.EQ6045fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13469							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACTTTGCCATCGGTTCGAG	0.391													22	35	---	---	---	---					A	179486221	-	A	179486220	7	5	443	1	0	1	1	0	0	0	0	0	16831	594	21	0	62834	0	TTN	2	179486220	Frame_Shift_Ins	INS	-	TCGA-KU-A66S-01A-21D-A30E-08	33416	179486220	63713153	81	86742											
TTN	7273	broad.mit.edu	37	chr2	179577870	179577870	+	Frame_Shift_Del	DEL	T	T	-																															gccatattagtagctatacaTgtgtagtcaccactgtctga																								rs61232800	by1000genomes	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179577870delT	ENST00000589042.1	-	93	27215	c.26991delA	c.(26989-26991)acfs	p.T8997fs	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.T7753fs|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.T8680fs|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8680	Ig-like 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCTATACATGTGTAGTCAC	0.388													16	39	---	---	---	---					-	179577870	T	-	179577870	7	5	443	1	0	1	0	1	0	0	0	0	16831	1451	51	0	77618	0	TTN	2	179577870	Frame_Shift_Del	DEL	T	TCGA-KU-A66S-01A-21D-A30E-08	91650	179577870	63621503	82	86743											
TTN	7273	broad.mit.edu	37	chr2	179594422	179594422	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaatgctgcagctcgcCgtgcctgcgtcatttcgagc	6	11	11	13	4	2	0	2	0	0	0	4	1	2	0	2	0	6	4	2	0	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179594422C>A	ENST00000589042.1	-	63	18782	c.18558G>T	c.(18556-18558)acG>acT	p.T6186T	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T5869T|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T4942T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5869	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T4942T(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)			TGCAGCTCGCCGTGCCTGCGT	0.463													57	96					2.91325e-39	3.65059e-39	1	0	A	179594422	C	A	179594422	2	1	443	1	0	0	0	0	0	0	0	1	16831	639	23	3		3	TTN	2	179594422	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	16552	179594422	63604951	83	86744											
HECW2	57520	broad.mit.edu	37	chr2	197183283	197183283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccatatcctacctccagtAgcgccctcctcctgggcagt	6	10	8	17	1	0	0	0	0	0	0	5	0	5	0	7	1	2	2	7	1	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:197183283A>G	ENST00000260983.2	-	9	2513	c.2331T>C	c.(2329-2331)gcT>gcC	p.A777A	HECW2_ENST00000409111.1_Silent_p.A421A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	777	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TACCTCCAGTAGCGCCCTCCT	0.587													26	38					0	0	0	0	G	197183283	A	G	197183283	2	3	443	1	0	0	0	0	0	0	0	1	7093	407	15	5		5	HECW2	2	197183283	Silent	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	17588861	197183283	46016090	84	86745											
NBEAL1	65065	broad.mit.edu	37	chr2	204039942	204039942	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcactattcaaattctgcGggggtcatgcactatctcat	10	13	7	11	1	5	0	4	0	2	0	6	0	5	0	0	2	2	1	0	2	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:204039942G>T	ENST00000449802.1	+	41	6642	c.6309G>T	c.(6307-6309)gcG>gcT	p.A2103A		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2103	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAATTCTGCGGGGGTCATGC	0.368													20	29					1.50039e-11	1.69693e-11	1	0	T	204039942	G	T	204039942	2	4	443	1	0	0	0	0	0	0	0	1	10258	1103	39	3		3	NBEAL1	2	204039942	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6856659	204039942	39159431	85	86746											
PLEKHM3	389072	broad.mit.edu	37	chr2	208795728	208795728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcagccgctgccgcagcCgcagcacggcggccagcggc	6	3	14	18	6	1	0	1	0	0	0	1	0	1	0	4	3	5	4	4	3	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:208795728C>A	ENST00000457206.1	-	5	2235	c.1808G>T	c.(1807-1809)cGg>cTg	p.R603L	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R603L|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.R603L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	603					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGCCGCAGCCGCAGCACGGC	0.612													49	86					9.52127e-25	1.17851e-24	1	0	A	208795728	C	A	208795728	3	1	443	1	0	0	0	0	1	0	0	0	12154	652	23	3	493	3	PLEKHM3	2	208795728	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4755786	208795728	34403645	86	86747											
ATIC	471	broad.mit.edu	37	chr2	216211560	216211560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggcaaactattggtggCttagacaccatccacaagtg	14	9	9	9	0	0	1	0	0	0	1	1	1	1	1	2	3	1	2	2	3	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:216211560C>G	ENST00000435675.1	+	13	1787	c.1396C>G	c.(1396-1398)Ctt>Gtt	p.L466V	ATIC_ENST00000236959.9_Missense_Mutation_p.L467V|ATIC_ENST00000540518.1_Missense_Mutation_p.L408V			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	467					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CTATTGGTGGCTTAGACACCA	0.458			T	ALK	ALCL								21	92					0	0	0	0	G	216211560	C	G	216211560	3	3	443	1	0	0	0	0	1	0	0	0	1109	797	28	4	1453	4	ATIC	2	216211560	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	7415832	216211560	26987813	87	86748											
COL4A3	1285	broad.mit.edu	37	chr2	228163400	228163400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttttcatgaattcaggtGcgcctggtccccctggacct	6	12	10	13	1	2	1	2	1	0	0	3	3	3	2	4	3	1	0	4	3	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:228163400G>A	ENST00000396578.3	+	43	3916	c.3754G>A	c.(3754-3756)Gcg>Acg	p.A1252T	AC097662.2_ENST00000433324.1_RNA|COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1252	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAATTCAGGTGCGCCTGGTCC	0.483													18	46					0	0	0	0	A	228163400	G	A	228163400	3	1	443	1	0	0	0	0	1	0	0	0	3721	1319	46	4	3924	4	COL4A3	2	228163400	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	11951840	228163400	15035973	88	86749											
DGKD	8527	broad.mit.edu	37	chr2	234357766	234357766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgctctgtcctgaaagaGaagctggattcccttctcaa	10	11	9	11	0	2	2	1	1	2	1	5	4	4	3	2	1	2	2	2	1	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:234357766G>C	ENST00000264057.2	+	15	1644	c.1632G>C	c.(1630-1632)gaG>gaC	p.E544D	DGKD_ENST00000409813.3_Missense_Mutation_p.E500D	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	544					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCCTGAAAGAGAAGCTGGATT	0.577													7	153					0	0	0	0	C	234357766	G	C	234357766	3	2	443	1	0	0	0	0	1	0	0	0	4504	933	33	2	1714	2	DGKD	2	234357766	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6194366	234357766	8841607	89	86750											
AGAP1	116987	broad.mit.edu	37	chr2	236659080	236659080	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctgaaacggtgcacgtaCtacgagacgtgtgctacata	12	8	11	10	4	0	2	0	1	0	1	0	4	0	2	1	1	6	3	1	1	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:236659080C>T	ENST00000409538.1	+	6	1912	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	AGAP1_ENST00000428334.2_Silent_p.Y46Y|AGAP1_ENST00000336665.5_Silent_p.Y207Y|AGAP1_ENST00000409457.1_Silent_p.Y207Y|AGAP1_ENST00000304032.7_Silent_p.Y207Y			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	207	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGTGCACGTACTACGAGACGT	0.527													47	97					0	0	0	0	T	236659080	C	T	236659080	2	4	443	1	0	0	0	0	0	0	0	1	366	576	20	4		4	AGAP1	2	236659080	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2301314	236659080	6540293	90	86751											
GRM7	2917	broad.mit.edu	37	chr3	6903556	6903556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggggcttcggggagttcgGtctccatcatggtagccaac	6	11	14	10	2	2	0	1	0	1	0	5	1	2	1	2	6	2	3	2	6	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:6903556G>A	ENST00000486284.1	+	1	755	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	GRM7_ENST00000402647.2_Missense_Mutation_p.V161I|GRM7_ENST00000357716.4_Missense_Mutation_p.V161I|GRM7_ENST00000403881.1_Missense_Mutation_p.V161I|GRM7_ENST00000389336.4_Missense_Mutation_p.V161I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	161					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGGAGTTCGGTCTCCATCAT	0.602													23	33					0	0	0	0	A	6903556	G	A	6903556	3	1	443	1	0	0	0	0	1	0	0	0	6852	1261	44	4	483	4	GRM7	3	6903556	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		6903556	191118874	91	86752											
SLC6A11	6538	broad.mit.edu	37	chr3	10861256	10861256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgaaggtggcattacgtgTtggaggaaagtttgcccttt	9	13	14	5	1	0	1	0	1	0	0	0	3	0	3	1	4	2	3	1	4	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:10861256T>C	ENST00000254488.2	+	2	429	c.363T>C	c.(361-363)tgT>tgC	p.C121C	SLC6A11_ENST00000454147.1_Silent_p.C121C	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	121					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCATTACGTGTTGGAGGAAAG	0.408													39	53					0	0	0	0	C	10861256	T	C	10861256	2	2	443	1	0	0	0	0	0	0	0	1	14762	1731	60	5		5	SLC6A11	3	10861256	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	3957700	10861256	187161174	92	86753											
KCNH8	131096	broad.mit.edu	37	chr3	19479726	19479726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataccttggggggcccgtcGatccgaagtgcctatattgc	8	10	12	11	3	0	0	0	0	0	0	2	2	1	0	4	3	3	0	4	3	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:19479726G>A	ENST00000328405.2	+	8	1514	c.1248G>A	c.(1246-1248)tcG>tcA	p.S416S	KCNH8_ENST00000537696.1_Silent_p.S57S	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	416						integral to membrane	two-component sensor activity	p.S416S(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGGGCCCGTCGATCCGAAGTG	0.493													26	164					0	0	0	0	A	19479726	G	A	19479726	2	1	443	1	0	0	0	0	0	0	0	1	8091	1045	37	1		1	KCNH8	3	19479726	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8618470	19479726	178542704	93	86754											
NR1D2	9975	broad.mit.edu	37	chr3	24009502	24009502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtttacagctgttgtcCtggtatctgcaggtaagcaa	8	15	11	7	0	1	0	0	0	1	0	2	0	2	0	1	2	4	8	1	2	4	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:24009502C>G	ENST00000312521.4	+	7	1850	c.1531C>G	c.(1531-1533)Ctg>Gtg	p.L511V	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	511					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AGCTGTTGTCCTGGTATCTGC	0.443													4	47					0	0	0	0	G	24009502	C	G	24009502	3	3	443	1	0	0	0	0	1	0	0	0	10687	680	24	4	1557	4	NR1D2	3	24009502	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4529776	24009502	174012928	94	86755											
RARB	5915	broad.mit.edu	37	chr3	25635088	25635088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactcagatgcacaatgctgGatttggtcctctgactgacc	10	11	9	11	0	2	3	1	2	1	1	3	4	3	4	2	2	3	2	2	2	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:25635088G>T	ENST00000330688.4	+	6	1302	c.881G>T	c.(880-882)gGa>gTa	p.G294V	RARB_ENST00000437042.2_Missense_Mutation_p.G182V|RARB_ENST00000462272.1_Intron|RARB_ENST00000404969.1_Missense_Mutation_p.G301V|RARB_ENST00000458646.1_Missense_Mutation_p.G182V	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	301	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACAATGCTGGATTTGGTCCT	0.473													40	50					1.22674e-20	1.49233e-20	1	0	T	25635088	G	T	25635088	3	4	443	1	0	0	0	0	1	0	0	0	13135	1174	41	2	903	2	RARB	3	25635088	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1625586	25635088	172387342	95	86756											
CMTM7	112616	broad.mit.edu	37	chr3	32483360	32483360	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgattgccttcatctgtgTgcggagctccctgtggacca	5	12	12	12	1	2	1	1	1	1	0	3	3	3	3	3	2	3	2	3	2	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:32483360T>G	ENST00000334983.5	+	2	424	c.188T>G	c.(187-189)gTg>gGg	p.V63G	CMTM7_ENST00000349718.4_Missense_Mutation_p.V63G	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	63	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTCATCTGTGTGCGGAGCTCC	0.512													4	118					0	0	0	0	G	32483360	T	G	32483360	3	3	443	1	0	0	0	0	1	0	0	0	3618	1696	59	5	194	5	CMTM7	3	32483360	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	6848272	32483360	165539070	96	86757											
DLEC1	9940	broad.mit.edu	37	chr3	38135260	38135260	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattagaaatgctacgTgggtaacccctgtgtgtgcc	9	13	11	8	1	0	2	0	1	0	1	0	2	0	2	3	1	4	2	3	1	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38135260T>A	ENST00000308059.6	+	12	1940		c.e12+2		DLEC1_ENST00000346219.3_Splice_Site|DLEC1_ENST00000452631.2_Splice_Site			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1						negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAATGCTACGTGGGTAACCCC	0.532													38	53					0	0	0	0	A	38135260	T	A	38135260	5	1	443	1	0	0	0	0	0	0	1	0	4589	1710	59	5	1967	5	DLEC1	3	38135260	Splice_Site	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	5651900	38135260	159887170	97	86758											
SCN5A	6331	broad.mit.edu	37	chr3	38640529	38640529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggggcccgcctggctcctCcgatggcgtggtctgagtgc	2	9	16	14	3	1	1	0	1	1	0	3	2	3	1	4	5	1	1	4	5	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38640529C>G	ENST00000413689.1	-	13	2096	c.1903G>C	c.(1903-1905)Gag>Cag	p.E635Q	SCN5A_ENST00000455624.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.E635Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.E635Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	635					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTGGCTCCTCCGATGGCGTG	0.667													14	25					0	0	0	0	G	38640529	C	G	38640529	3	3	443	1	0	0	0	0	1	0	0	0	14009	864	30	2	4211	2	SCN5A	3	38640529	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	505269	38640529	159381901	98	86759											
SCN5A	6331	broad.mit.edu	37	chr3	38648258	38648258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggtgtagccgtggtcggGgttctcgcctgcctttaggc	2	12	16	11	3	1	0	0	0	1	0	3	0	1	0	3	5	2	3	3	5	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38648258G>T	ENST00000413689.1	-	9	1235	c.1042C>A	c.(1042-1044)Ccc>Acc	p.P348T	SCN5A_ENST00000455624.2_Missense_Mutation_p.P348T|SCN5A_ENST00000425664.1_Missense_Mutation_p.P348T|SCN5A_ENST00000423572.2_Missense_Mutation_p.P348T|SCN5A_ENST00000451551.2_Missense_Mutation_p.P348T|SCN5A_ENST00000333535.4_Missense_Mutation_p.P348T|SCN5A_ENST00000449557.2_Missense_Mutation_p.P348T|SCN5A_ENST00000450102.2_Missense_Mutation_p.P348T|SCN5A_ENST00000443581.1_Missense_Mutation_p.P348T|SCN5A_ENST00000414099.2_Missense_Mutation_p.P348T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	348					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCGTGGTCGGGGTTCTCGCCT	0.602													31	56					1.68575e-08	1.86196e-08	1	0	T	38648258	G	T	38648258	3	4	443	1	0	0	0	0	1	0	0	0	14009	1232	43	4	5088	4	SCN5A	3	38648258	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7729	38648258	159374172	99	86760											
CTNNB1	1499	broad.mit.edu	37	chr3	41266104	41266104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagtcttacctggactctgGaatccattctggtgccacta	9	12	8	12	0	3	0	0	0	3	0	4	2	4	2	3	3	2	0	3	3	3	3	rs28931589		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:41266104G>A	ENST00000349496.5	+	3	381	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27E|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34E|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34E	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGGACTCTGGAATCCATTCT	0.488	G34E(AGS_STOMACH)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				12	26					0	0	0	0	A	41266104	G	A	41266104	3	1	443	1	0	0	0	0	1	0	0	0	4048	1174	41	2	107	2	CTNNB1	3	41266104	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2617846	41266104	156756326	100	86761											
VIPR1	7433	broad.mit.edu	37	chr3	42560751	42560751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacctcacctgctggcCagccacccctcggggccagg	7	4	12	18	1	1	0	1	0	0	0	2	1	1	1	7	5	3	1	7	5	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:42560751C>T	ENST00000433647.1	+	4	722	c.98C>T	c.(97-99)cCa>cTa	p.P33L	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000325123.4_Missense_Mutation_p.P74L|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.P27L|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	74					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCTGCTGGCCAGCCACCCCT	0.592													12	13					0	0	0	0	T	42560751	C	T	42560751	3	4	443	1	0	0	0	0	1	0	0	0	17265	594	21	4	231	4	VIPR1	3	42560751	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1294647	42560751	155461679	101	86762											
CELSR3	1951	broad.mit.edu	37	chr3	48683174	48683174	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacactgaacacagccccaCctcacggggagaggcatcca	12	3	11	15	1	1	2	1	1	0	1	2	4	2	3	4	4	2	1	4	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:48683174C>G	ENST00000544264.1	-	24	7886		c.e24+1		CELSR3_ENST00000164024.4_Splice_Site			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGCCCCACCTCACGGGGA	0.622													5	36					0	0	0	0	G	48683174	C	G	48683174	5	3	443	1	0	0	0	0	0	0	1	0	3252	521	18	4	2399	4	CELSR3	3	48683174	Splice_Site	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6122423	48683174	149339256	102	86763											
IMPDH2	3615	broad.mit.edu	37	chr3	49061949	49061949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggaggctatggacgccaCcttccacctgggctgaggac	9	7	13	12	1	0	1	0	1	0	0	1	4	1	4	4	5	0	2	4	5	2	2	rs5848860		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49061949C>G	ENST00000326739.4	-	13	1541	c.1502G>C	c.(1501-1503)gGt>gCt	p.G501A		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	501					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	ATGGACGCCACCTTCCACCTG	0.567													14	82					0	0	0	0	G	49061949	C	G	49061949	3	3	443	1	0	0	0	0	1	0	0	0	7780	507	18	4	50	4	IMPDH2	3	49061949	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	378775	49061949	148960481	103	86764											
RHOA	387	broad.mit.edu	37	chr3	49397732	49397732	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacctctctcactccatcTttggtctttgctgaacactc	9	14	4	14	0	4	1	1	1	3	0	7	1	5	1	2	1	3	1	2	1	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49397732T>A	ENST00000418115.1	-	5	876	c.492A>T	c.(490-492)aaA>aaT	p.K164N	RHOA_ENST00000422781.1_3'UTR|RHOA_ENST00000454011.2_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	164					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TCACTCCATCTTTGGTCTTTG	0.463													56	71					0	0	0	0	A	49397732	T	A	49397732	3	1	443	1	0	0	0	0	1	0	0	0	13414	1606	56	5	93	5	RHOA	3	49397732	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	335783	49397732	148624698	104	86765											
MST1R	4486	broad.mit.edu	37	chr3	49929227	49929227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacattggattcgattctGggcctggtctatgtattctc	6	15	11	9	1	3	0	0	0	3	0	5	2	3	1	1	4	0	2	1	4	2	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49929227G>C	ENST00000296474.3	-	15	3343	c.3316C>G	c.(3316-3318)Cag>Gag	p.Q1106E	MST1R_ENST00000344206.4_Missense_Mutation_p.Q1057E	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1106	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATTCGATTCTGGGCCTGGTCT	0.537													10	185					0	0	0	0	C	49929227	G	C	49929227	3	2	443	1	0	0	0	0	1	0	0	0	9961	1357	47	4	910	4	MST1R	3	49929227	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	531495	49929227	148093203	105	86766											
RBM15B	29890	broad.mit.edu	37	chr3	51430355	51430355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccctcgccactccctgtgCattatgagctgctcacagat	8	10	8	15	1	1	2	1	1	0	1	3	2	2	2	3	0	4	3	3	0	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:51430355C>G	ENST00000323686.4	+	1	1625	c.1525C>G	c.(1525-1527)Cat>Gat	p.H509D		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	509					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCCCTGTGCATTATGAGCT	0.617													11	80					0	0	0	0	G	51430355	C	G	51430355	3	3	443	1	0	0	0	0	1	0	0	0	13199	710	25	4	1527	4	RBM15B	3	51430355	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1501128	51430355	146592075	106	86767											
DNAH1	25981	broad.mit.edu	37	chr3	52394096	52394096	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtggatctcacagctgagGtgaggacatggggggcgccc	8	6	17	10	1	1	2	1	2	1	0	2	4	1	4	1	6	1	1	1	6	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:52394096G>C	ENST00000420323.2	+	27	4832		c.e27+1			NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACAGCTGAGGTGAGGACATG	0.562													6	92					0	0	0	0	C	52394096	G	C	52394096	5	2	443	1	0	0	0	0	0	0	1	0	4634	1275	44	4	4674	4	DNAH1	3	52394096	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	963741	52394096	145628334	107	86768											
DNAH1	25981	broad.mit.edu	37	chr3	52433085	52433085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctggactttctgcaggcctgGatccaagatggcatcccagc	8	9	11	13	0	1	1	0	0	1	1	3	3	3	3	3	4	2	2	3	4	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:52433085G>C	ENST00000420323.2	+	76	12570	c.12309G>C	c.(12307-12309)tgG>tgC	p.W4103C		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4168					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCAGGCCTGGATCCAAGATG	0.542													21	216					0	0	0	0	C	52433085	G	C	52433085	3	2	443	1	0	0	0	0	1	0	0	0	4634	1183	41	2	12607	2	DNAH1	3	52433085	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	38989	52433085	145589345	108	86769											
PTPRG	5793	broad.mit.edu	37	chr3	62177184	62177184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaggtgcagcctctgAaccagacggcactgcaggtg	11	6	13	11	1	1	3	0	2	1	1	1	3	1	3	2	3	4	3	2	3	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:62177184A>G	ENST00000474889.1	+	9	1452	c.1075A>G	c.(1075-1077)Aac>Gac	p.N359D	PTPRG_ENST00000295874.10_Missense_Mutation_p.N359D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	359	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCAGCCTCTGAACCAGACGGC	0.537													6	28					0	0	0	0	G	62177184	A	G	62177184	3	3	443	1	0	0	0	0	1	0	0	0	12884	246	9	5	1109	5	PTPRG	3	62177184	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	9744099	62177184	135845246	109	86770											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084932	64084932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctgaagaggaggagcagGtggaacaccaatcatactcg	14	6	12	9	1	2	2	1	1	1	1	3	5	2	5	1	4	3	1	1	4	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:64084932G>C	ENST00000295902.6	-	8	2915	c.2330C>G	c.(2329-2331)aCc>aGc	p.T777S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.T833S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	777						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGAGGAGCAGGTGGAACACCA	0.592													3	42					0	0	0	0	C	64084932	G	C	64084932	3	2	443	1	0	0	0	0	1	0	0	0	12567	1261	44	4	208	4	PRICKLE2	3	64084932	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1907748	64084932	133937498	110	86771											
ZPLD1	131368	broad.mit.edu	37	chr3	102157397	102157397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggggtctgctcagttcaaCggctacaactgtgatgccaa	9	9	11	12	2	3	1	2	1	1	0	3	1	3	1	2	3	5	3	2	3	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:102157397C>A	ENST00000306176.1	+	2	214	c.114C>A	c.(112-114)aaC>aaA	p.N38K	ZPLD1_ENST00000491959.1_Missense_Mutation_p.N22K|ZPLD1_ENST00000466937.1_Missense_Mutation_p.N22K	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	22						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTCAGTTCAACGGCTACAACT	0.413													9	40					7.48243e-07	8.08788e-07	1	0	A	102157397	C	A	102157397	3	1	443	1	0	0	0	0	1	0	0	0	18314	535	19	3	120	3	ZPLD1	3	102157397	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	38072465	102157397	95865033	111	86772											
SEC22A	26984	broad.mit.edu	37	chr3	122964834	122964834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaatttaattcgaggCtttcatgctatagaaagtct	11	15	8	7	1	3	2	1	1	2	1	4	3	3	2	0	1	1	3	0	1	5	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:122964834C>T	ENST00000309934.4	+	4	1526	c.630C>T	c.(628-630)ggC>ggT	p.G210G	SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Silent_p.G210G	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	210					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TAATTCGAGGCTTTCATGCTA	0.398													44	62					0	0	0	0	T	122964834	C	T	122964834	2	4	443	1	0	0	0	0	0	0	0	1	14075	784	28	4		4	SEC22A	3	122964834	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	20807437	122964834	75057596	112	86773											
ALDH1L1	10840	broad.mit.edu	37	chr3	125833488	125833488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacaccttcttcacgttaCttatggcacagctgcaagga	10	10	10	11	1	2	0	1	0	1	0	2	2	2	2	1	3	3	4	1	3	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:125833488C>T	ENST00000393434.2	-	18	2343	c.1994G>A	c.(1993-1995)aGt>aAt	p.S665N	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S665N|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S675N|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S564N|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	665	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTTCACGTTACTTATGGCACA	0.622													18	61					0	0	0	0	T	125833488	C	T	125833488	3	4	443	1	0	0	0	0	1	0	0	0	494	565	20	4	738	4	ALDH1L1	3	125833488	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2868654	125833488	72188942	113	86774											
GRK7	131890	broad.mit.edu	37	chr3	141497592	141497592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggccaaggctgaggccatgGctttcttgcaagagcagccc	8	8	13	12	0	1	2	0	1	1	1	1	2	1	2	3	4	3	4	3	4	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:141497592G>C	ENST00000264952.2	+	1	603	c.466G>C	c.(466-468)Gct>Cct	p.A156P		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	156	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAGGCCATGGCTTTCTTGCA	0.567													5	58					0	0	0	0	C	141497592	G	C	141497592	3	2	443	1	0	0	0	0	1	0	0	0	6844	1203	42	4	468	4	GRK7	3	141497592	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	15664104	141497592	56524838	114	86775											
RSRC1	51319	broad.mit.edu	37	chr3	157921034	157921034	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attacataacatcaaacgtgGgtaagttggagcaaatctta	16	11	8	6	1	2	0	1	0	1	0	2	1	2	1	0	2	4	3	0	2	6	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:157921034G>T	ENST00000295930.3	+	4	656	c.494_splice	c.e4+1	p.G165_splice	RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000475278.2_Splice_Site_p.G165_splice|RSRC1_ENST00000480820.1_Splice_Site_p.G165_splice|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	165					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATCAAACGTGGGTAAGTTGGA	0.408													6	5					1	1	1	0	T	157921034	G	T	157921034	5	4	443	1	0	0	0	0	0	0	1	0	13799	1246	43	4	504	4	RSRC1	3	157921034	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	16423442	157921034	40101396	115	86776											
SI	6476	broad.mit.edu	37	chr3	164793736	164793736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caattaaggcaatagctattAtagtaactatgacaaaaagg	19	10	7	5	0	0	1	0	1	0	0	0	1	0	1	0	2	2	3	0	2	11	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:164793736A>G	ENST00000264382.3	-	2	127	c.65T>C	c.(64-66)aTa>aCa	p.I22T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	22					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATAGCTATTATAGTAACTAT	0.308										HNSCC(35;0.089)			21	39					0	0	0	0	G	164793736	A	G	164793736	3	3	443	1	0	0	0	0	1	0	0	0	14385	449	16	5	5606	5	SI	3	164793736	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	6872702	164793736	33228694	116	86777											
WDR49	151790	broad.mit.edu	37	chr3	167278004	167278004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaacagtagaccctgtatCagagctgattacctaagaga	15	8	10	8	0	1	4	1	1	0	3	1	6	1	5	2	1	3	3	2	1	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:167278004C>G	ENST00000308378.3	-	5	804	c.499G>C	c.(499-501)Gat>Cat	p.D167H	WDR49_ENST00000453925.2_Missense_Mutation_p.D220H|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_5'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	167										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GACCCTGTATCAGAGCTGATT	0.373													27	29					0	0	0	0	G	167278004	C	G	167278004	3	3	443	1	0	0	0	0	1	0	0	0	17398	826	29	2	1638	2	WDR49	3	167278004	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2484268	167278004	30744426	117	86778											
PDCD10	11235	broad.mit.edu	37	chr3	167414881	167414881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaaattttcataatgaTgtcttgtgtgagacctggat	11	16	8	6	0	3	2	1	2	2	1	3	4	3	3	1	1	0	0	1	1	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:167414881T>C	ENST00000392750.2	-	5	601	c.184A>G	c.(184-186)Atc>Gtc	p.I62V	PDCD10_ENST00000497056.2_Missense_Mutation_p.I62V|PDCD10_ENST00000487947.2_Missense_Mutation_p.I62V|PDCD10_ENST00000473645.2_Missense_Mutation_p.I62V|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000470131.1_Missense_Mutation_p.I62V|PDCD10_ENST00000471885.1_Missense_Mutation_p.I62V|PDCD10_ENST00000461494.1_Missense_Mutation_p.I62V	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	62					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTCATAATGATGTCTTGTGTG	0.343													17	30					0	0	0	0	C	167414881	T	C	167414881	3	2	443	1	0	0	0	0	1	0	0	0	11687	1464	51	5	474	5	PDCD10	3	167414881	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	136877	167414881	30607549	118	86779											
USP13	8975	broad.mit.edu	37	chr3	179399665	179399665	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactttttctctttcttctaGaattctgaaggtggactcta	8	19	6	8	0	5	2	0	1	5	1	6	3	5	3	0	2	1	0	0	2	5	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:179399665G>C	ENST00000263966.3	+	2	639		c.e2-1		USP13_ENST00000496897.1_Splice_Site|USP13_ENST00000482333.1_Splice_Site	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)						ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTCTTCTAGAATTCTGAAG	0.428													11	143					0	0	0	0	C	179399665	G	C	179399665	5	2	443	1	0	0	0	0	0	0	1	0	17140	956	33	2	174	2	USP13	3	179399665	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	11984784	179399665	18622765	119	86780											
PSMD2	5708	broad.mit.edu	37	chr3	184023942	184023942	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgtgtgtgcatatgcAggtctgtgtctttatgagtc	6	16	14	5	0	2	1	0	1	2	0	3	2	2	2	0	2	2	2	0	2	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:184023942A>C	ENST00000310118.4	+	14	2361	c.1804_splice	c.e14+1	p.A601_splice	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site_p.A471_splice|PSMD2_ENST00000435761.1_Splice_Site_p.A442_splice	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	601					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GTGCATATGCAGGTCTGTGTC	0.498											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	50					0	0	0	0	C	184023942	A	C	184023942	5	2	443	1	0	0	0	0	0	0	1	0	12777	202	7	5	1857	5	PSMD2	3	184023942	Splice_Site	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	4624277	184023942	13998488	120	86781											
OPA1	4976	broad.mit.edu	37	chr3	193332690	193332690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgacaaaccttcctttaCgtaaactgaaattctctcca	12	13	3	13	1	2	2	0	2	2	0	5	2	4	2	3	0	3	1	3	0	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:193332690C>G	ENST00000361510.2	+	2	445	c.211C>G	c.(211-213)Cgt>Ggt	p.R71G	OPA1_ENST00000361828.2_Missense_Mutation_p.R71G|OPA1_ENST00000392438.3_Missense_Mutation_p.R71G|OPA1_ENST00000361150.2_Missense_Mutation_p.R71G|OPA1_ENST00000361715.2_Missense_Mutation_p.R71G|OPA1_ENST00000361908.3_Missense_Mutation_p.R71G|OPA1_ENST00000487986.1_3'UTR	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	71					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCTTCCTTTACGTAAACTGAA	0.403													6	32					0	0	0	0	G	193332690	C	G	193332690	3	3	443	1	0	0	0	0	1	0	0	0	10942	536	19	3	217	3	OPA1	3	193332690	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	9308748	193332690	4689740	121	86782											
LMLN	89782	broad.mit.edu	37	chr3	197762833	197762833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgatggaaacctgctctgcCcatcatgttgggacttctgt	8	12	10	11	1	3	0	1	0	2	0	3	3	3	2	2	2	3	2	2	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:197762833C>G	ENST00000330198.4	+	15	1808	c.1786C>G	c.(1786-1788)Cca>Gca	p.P596A	LMLN_ENST00000332636.5_Missense_Mutation_p.P544A|LMLN_ENST00000482695.1_Missense_Mutation_p.P581A|LMLN_ENST00000420910.2_Missense_Mutation_p.P633A	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	596					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCTGCTCTGCCCATCATGTTG	0.522													8	100					0	0	0	0	G	197762833	C	G	197762833	3	3	443	1	0	0	0	0	1	0	0	0	8902	623	22	4	1959	4	LMLN	3	197762833	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4430143	197762833	259597	122	86783											
GAK	2580	broad.mit.edu	37	chr4	871403	871403	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgcagctgcactcacCgcatcttgtcgtactcctgg	5	10	12	14	2	2	0	1	0	1	0	4	0	3	0	2	3	4	6	2	3	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:871403C>T	ENST00000314167.4	-	16	1966	c.1856_splice	c.e16+1	p.R619_splice	GAK_ENST00000511163.1_Splice_Site_p.R540_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.R619P(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCACTCACCGCATCTTGTC	0.652													3	39					0	0	0	0	T	871403	C	T	871403	5	4	443	1	0	0	0	0	0	0	1	0	6244	666	23	1	2131	1	GAK	4	871403	Splice_Site	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		871403	190282873	123	86784											
TNIP2	79155	broad.mit.edu	37	chr4	2746144	2746144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacctggtgcagcaaagaGgcgaccttttcctccagttc	9	9	10	13	1	0	1	0	0	0	1	3	3	2	1	4	2	2	3	4	2	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:2746144G>A	ENST00000510267.1	-	5	1102	c.675C>T	c.(673-675)gcC>gcT	p.A225A	TNIP2_ENST00000315423.7_Silent_p.A332A|TNIP2_ENST00000503235.1_Silent_p.A249A|TNIP2_ENST00000505186.1_5'UTR	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	332						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCAAAGAGGCGACCTTTT	0.473													30	61					0	0	0	0	A	2746144	G	A	2746144	2	1	443	1	0	0	0	0	0	0	0	1	16409	987	35	4		4	TNIP2	4	2746144	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1874741	2746144	188408132	124	86785											
HTT	3064	broad.mit.edu	37	chr4	3129100	3129100	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacggtcacagcacacActgcaggcggactcagtgga	11	4	12	14	2	2	0	2	0	0	0	2	2	2	2	1	4	3	2	1	4	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:3129100A>T	ENST00000355072.5	+	12	1657	c.1512A>T	c.(1510-1512)acA>acT	p.T504T		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	504					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACAGCACACACTGCAGGCGG	0.562													15	21					0	0	0	0	T	3129100	A	T	3129100	2	4	443	1	0	0	0	0	0	0	0	1	7510	146	6	5		5	HTT	4	3129100	Silent	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	382956	3129100	188025176	125	86786											
SH3TC1	54436	broad.mit.edu	37	chr4	8218736	8218736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagagtgatgacgggtccCcgggatgcaggaaatggccc	9	6	17	9	2	0	3	0	3	0	1	1	6	1	5	3	4	1	1	3	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:8218736C>T	ENST00000539824.1	+	7	827	c.453C>T	c.(451-453)ccC>ccT	p.P151P	SH3TC1_ENST00000245105.3_Silent_p.P227P			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	227							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGACGGGTCCCCGGGATGCAG	0.662													26	46					0	0	0	0	T	8218736	C	T	8218736	2	4	443	1	0	0	0	0	0	0	0	1	14349	610	22	4		4	SH3TC1	4	8218736	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	5089636	8218736	182935540	126	86787											
CLRN2	645104	broad.mit.edu	37	chr4	17524557	17524557	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcctcttcctggcCttggccctggctctggtcag	1	13	11	16	0	3	0	1	0	2	0	5	0	5	0	4	4	2	3	4	4	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:17524557C>G	ENST00000511148.2	+	2	426	c.324C>G	c.(322-324)gcC>gcG	p.A108A		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	108						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCTTCCTGGCCTTGGCCCTGG	0.567													9	100					0	0	0	0	G	17524557	C	G	17524557	2	3	443	1	0	0	0	0	0	0	0	1	3588	668	24	4		4	CLRN2	4	17524557	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	9305821	17524557	173629719	127	86788											
GABRG1	2565	broad.mit.edu	37	chr4	46099276	46099276	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgaattcagaatttgTgtgatatctccttcatgaat	13	15	7	6	0	3	4	2	3	1	1	4	4	3	4	1	0	1	1	1	0	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:46099276T>A	ENST00000295452.4	-	2	362	c.195A>T	c.(193-195)acA>acT	p.T65T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	65					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCAGAATTTGTGTGATATCTC	0.368													32	79					0	0	0	0	A	46099276	T	A	46099276	2	1	443	1	0	0	0	0	0	0	0	1	6219	1683	59	5		5	GABRG1	4	46099276	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	28574719	46099276	145055000	128	86789											
REST	5978	broad.mit.edu	37	chr4	57797436	57797436	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctcccagagagcctccCcttcacatggagccaatttc	8	9	6	18	0	1	1	1	0	0	1	5	3	4	2	7	1	2	0	7	1	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:57797436C>G	ENST00000309042.7	+	4	2726	c.2412C>G	c.(2410-2412)ccC>ccG	p.P804P		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	804	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAGAGCCTCCCCTTCACATGG	0.527													44	180					0	0	0	0	G	57797436	C	G	57797436	2	3	443	1	0	0	0	0	0	0	0	1	13316	610	22	4		4	REST	4	57797436	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	11698160	57797436	133356840	129	86790											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68708314	68708314	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctgatgaactgatttctTaaatttgattctttgaatgt	10	19	7	5	0	3	5	0	5	3	0	3	5	3	5	0	0	1	1	0	0	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:68708314T>G	ENST00000283916.6	-	4	377	c.279A>C	c.(277-279)ttA>ttC	p.L93F	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	93	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTGATTTCTTAAATTTGATT	0.348													12	19					0	0	0	0	G	68708314	T	G	68708314	3	3	443	1	0	0	0	0	1	0	0	0	16335	1751	61	5	1005	5	TMPRSS11D	4	68708314	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	10910878	68708314	122445962	130	86791											
UGT2B4	7363	broad.mit.edu	37	chr4	70350984	70350984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtactcgacattgtgtGgaagtccaaactaacagctg	11	11	10	9	1	1	0	0	0	1	0	3	2	2	1	1	1	4	2	1	1	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:70350984G>T	ENST00000305107.6	-	5	1298	c.1252C>A	c.(1252-1254)Cac>Aac	p.H418N	UGT2B4_ENST00000381096.3_Missense_Mutation_p.H282N|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	418					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GACATTGTGTGGAAGTCCAAA	0.413													81	119					2.96794e-49	3.76578e-49	1	0	T	70350984	G	T	70350984	3	4	443	1	0	0	0	0	1	0	0	0	17057	1348	47	4	342	4	UGT2B4	4	70350984	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1642670	70350984	120803292	131	86792											
HPSE	10855	broad.mit.edu	37	chr4	84255758	84255758	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggttggcgtcaatggTgacggacaggaacgaggggc	9	5	19	8	3	1	1	1	1	0	0	1	4	1	3	1	8	1	1	1	8	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:84255758T>A	ENST00000405413.2	-	2	314	c.178A>T	c.(178-180)Acc>Tcc	p.T60S	HPSE_ENST00000513463.1_Missense_Mutation_p.T60S|HPSE_ENST00000311412.5_Missense_Mutation_p.T60S|HPSE_ENST00000512196.1_Missense_Mutation_p.T60S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	60					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GCGTCAATGGTGACGGACAGG	0.657													4	7					0	0	0	0	A	84255758	T	A	84255758	3	1	443	1	0	0	0	0	1	0	0	0	7394	1696	59	5	1501	5	HPSE	4	84255758	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	13904774	84255758	106898518	132	86793											
HERC5	51191	broad.mit.edu	37	chr4	89400632	89400632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtaatgttcaagctctcCtagaaatgttgaagaagctg	13	12	10	6	0	2	3	1	1	1	2	3	3	2	3	1	1	2	5	1	1	6	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:89400632C>G	ENST00000264350.3	+	13	1864	c.1711C>G	c.(1711-1713)Cta>Gta	p.L571V	HERC5_ENST00000508159.1_Missense_Mutation_p.L209V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	571					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TCAAGCTCTCCTAGAAATGTT	0.418													15	57					0	0	0	0	G	89400632	C	G	89400632	3	3	443	1	0	0	0	0	1	0	0	0	7111	680	24	4	1761	4	HERC5	4	89400632	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	5144874	89400632	101753644	133	86794											
UNC5C	8633	broad.mit.edu	37	chr4	96163590	96163590	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgacttactctgcatgcaAagcccatcagtgcagttctt	10	13	7	11	0	3	1	1	1	2	0	3	1	3	1	1	0	5	4	1	0	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:96163590A>G	ENST00000453304.1	-	7	1446	c.1098T>C	c.(1096-1098)ctT>ctC	p.L366L	UNC5C_ENST00000506749.1_Silent_p.L366L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	366	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCATGCAAAGCCCATCAG	0.498													10	19					0	0	0	0	G	96163590	A	G	96163590	2	3	443	1	0	0	0	0	0	0	0	1	17089	1	1	5		5	UNC5C	4	96163590	Silent	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	6762958	96163590	94990686	134	86795											
PDHA2	5161	broad.mit.edu	37	chr4	96761859	96761859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatataaaggaaacgatgaGatctgtttgactttatatgg	16	13	9	3	1	1	2	0	2	1	1	1	5	1	3	0	2	1	1	0	2	7	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:96761859G>T	ENST00000295266.4	+	1	621	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	186					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GAAACGATGAGATCTGTTTGA	0.483													32	49					3.99451e-17	4.75313e-17	1	0	T	96761859	G	T	96761859	3	4	443	1	0	0	0	0	1	0	0	0	11736	933	33	2	560	2	PDHA2	4	96761859	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	598269	96761859	94392417	135	86796											
CENPE	1062	broad.mit.edu	37	chr4	104070429	104070429	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcaagcctctctgttTccatatgttccaatgtcaat	10	14	4	13	0	3	0	2	0	1	0	6	0	5	0	4	0	2	2	4	0	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:104070429T>A	ENST00000265148.3	-	27	3622	c.3533A>T	c.(3532-3534)gAa>gTa	p.E1178V	CENPE_ENST00000380026.3_Missense_Mutation_p.E1153V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1178					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTCTCTGTTTCCATATGTTC	0.303													26	26					0	0	0	0	A	104070429	T	A	104070429	3	1	443	1	0	0	0	0	1	0	0	0	3259	1783	62	5	4664	5	CENPE	4	104070429	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	7308570	104070429	87083847	136	86797											
EGF	1950	broad.mit.edu	37	chr4	110932604	110932604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaccaaatggagctgaCtcagtgaaaactggaattaa	17	7	8	9	0	1	2	1	2	0	0	1	4	1	4	2	2	2	1	2	2	5	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:110932604C>G	ENST00000265171.5	+	24	4062	c.3617C>G	c.(3616-3618)aCt>aGt	p.T1206S	EGF_ENST00000503392.1_Missense_Mutation_p.T1165S|EGF_ENST00000509793.1_Missense_Mutation_p.T1164S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1206					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			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)	ATGGAGCTGACTCAGTGAAAA	0.443													16	99					0	0	0	0	G	110932604	C	G	110932604	3	3	443	1	0	0	0	0	1	0	0	0	4998	565	20	4	3711	4	EGF	4	110932604	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6862175	110932604	80221672	137	86798											
ANK2	287	broad.mit.edu	37	chr4	114279688	114279688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcaaatccaaaattcCtgtaaggactatgcccactt	15	10	6	10	0	0	1	0	1	0	0	2	2	2	2	3	1	2	2	3	1	6	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:114279688C>G	ENST00000357077.4	+	38	9967	c.9914C>G	c.(9913-9915)cCt>cGt	p.P3305R	ANK2_ENST00000264366.6_Missense_Mutation_p.P3272R|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3272					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAAAATTCCTGTAAGGACT	0.433													29	106					0	0	0	0	G	114279688	C	G	114279688	3	3	443	1	0	0	0	0	1	0	0	0	621	681	24	4	10129	4	ANK2	4	114279688	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3347084	114279688	76874588	138	86799											
KIAA1109	84162	broad.mit.edu	37	chr4	123249472	123249472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggatgaaaaagatgaaGaccatgagagggaaaggttt	19	6	14	2	0	0	6	0	3	0	4	0	9	0	8	1	3	0	1	1	3	5	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:123249472G>C	ENST00000264501.4	+	66	11582	c.11209G>C	c.(11209-11211)Gac>Cac	p.D3737H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3737H			Q2LD37	K1109_HUMAN	KIAA1109	3737					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAGATGAAGACCATGAGAG	0.398													9	65					0	0	0	0	C	123249472	G	C	123249472	3	2	443	1	0	0	0	0	1	0	0	0	8259	942	33	2	11463	2	KIAA1109	4	123249472	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8969784	123249472	67904804	139	86800											
FAT4	79633	broad.mit.edu	37	chr4	126371172	126371172	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgttaaggttggtacgAagttaatcagagttacagca	16	11	10	4	1	1	1	1	0	0	1	1	2	1	1	0	2	3	6	0	2	7	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:126371172A>C	ENST00000394329.3	+	9	9014	c.9001A>C	c.(9001-9003)Aag>Cag	p.K3001Q	FAT4_ENST00000335110.5_Missense_Mutation_p.K1299Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3001	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTGGTACGAAGTTAATCAG	0.313													21	32					0	0	0	0	C	126371172	A	C	126371172	3	2	443	1	0	0	0	0	1	0	0	0	5737	247	9	5	9035	5	FAT4	4	126371172	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	3121700	126371172	64783104	140	86801											
C4orf33	132321	broad.mit.edu	37	chr4	130027803	130027803	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagaagttgaactttgtccGtaagtataaaatgttttttc	12	18	7	4	1	0	2	0	1	0	1	2	2	1	2	1	0	1	4	1	0	7	9			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:130027803G>A	ENST00000281146.4	+	3	963		c.e3+1		C4orf33_ENST00000425929.1_Splice_Site|C4orf33_ENST00000502887.1_Splice_Site	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AACTTTGTCCGTAAGTATAAA	0.249													3	17					0	0	0	0	A	130027803	G	A	130027803	5	1	443	1	0	0	0	0	0	0	1	0	2284	1159	40	1	249	1	C4orf33	4	130027803	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3656631	130027803	61126473	141	86802											
PCDH10	57575	broad.mit.edu	37	chr4	134072817	134072817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctcgagtgccagatcCagggcatgagcgtcttcacc	8	9	10	14	2	2	2	1	1	1	1	5	3	4	2	4	1	2	1	4	1	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:134072817C>G	ENST00000264360.4	+	1	2348	c.1522C>G	c.(1522-1524)Cag>Gag	p.Q508E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	508	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGCCAGATCCAGGGCATGAG	0.572													43	63					0	0	0	0	G	134072817	C	G	134072817	3	3	443	1	0	0	0	0	1	0	0	0	11578	595	21	4	1524	4	PCDH10	4	134072817	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4045014	134072817	57081459	142	86803											
PCDH10	57575	broad.mit.edu	37	chr4	134073851	134073851	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggacactgagcacaacccCtgcggggccatcgtcaccgg	9	4	12	16	4	1	1	1	1	0	0	2	2	1	2	4	4	3	1	4	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:134073851C>G	ENST00000264360.4	+	1	3382	c.2556C>G	c.(2554-2556)ccC>ccG	p.P852P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	852					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCACAACCCCTGCGGGGCCA	0.572													4	64					0	0	0	0	G	134073851	C	G	134073851	2	3	443	1	0	0	0	0	0	0	0	1	11578	668	24	4		4	PCDH10	4	134073851	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1034	134073851	57080425	143	86804											
NAA15	80155	broad.mit.edu	37	chr4	140262203	140262203	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttactacagattcaaatgCgagatcttgagggttacagg	12	11	10	8	1	2	3	1	1	1	2	2	4	2	3	1	2	4	1	1	2	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:140262203C>T	ENST00000296543.5	+	4	705	c.382C>T	c.(382-384)Cga>Tga	p.R128*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.R128*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	128					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATTCAAATGCGAGATCTTGA	0.318													14	41					0	0	0	0	T	140262203	C	T	140262203	4	4	443	1	0	0	0	0	0	1	0	0	10188	760	27	1	396	1	NAA15	4	140262203	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6188352	140262203	50892073	144	86805											
NR3C2	4306	broad.mit.edu	37	chr4	149073729	149073729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaagaatactggattaGggtaatttggtcctcaagag	13	11	10	7	0	1	2	1	0	0	2	3	3	3	3	2	3	1	1	2	3	6	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:149073729G>C	ENST00000355292.3	-	6	2775	c.2413C>G	c.(2413-2415)Cta>Gta	p.L805V	NR3C2_ENST00000344721.4_Missense_Mutation_p.L801V|NR3C2_ENST00000358102.3_Missense_Mutation_p.L801V|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Missense_Mutation_p.L805V|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000512865.1_Missense_Mutation_p.L684V|NR3C2_ENST00000503313.1_5'UTR			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	801	Steroid-binding.		S -> P (in AD-PHA1).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TACTGGATTAGGGTAATTTGG	0.373													4	46					0	0	0	0	C	149073729	G	C	149073729	3	2	443	1	0	0	0	0	1	0	0	0	10702	991	35	4	569	4	NR3C2	4	149073729	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8811526	149073729	42080547	145	86806											
MAP9	79884	broad.mit.edu	37	chr4	156268970	156268970	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacacagttctgcttggagGgctccacggaggaagtgcct	9	8	14	10	1	1	0	0	0	1	0	2	4	2	3	2	4	3	3	2	4	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:156268970G>C	ENST00000311277.4	-	14	2172	c.1909C>G	c.(1909-1911)Cct>Gct	p.P637A	AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000597939.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.P613A	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	637					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTGCTTGGAGGGCTCCACGGA	0.348													4	23					0	0	0	0	C	156268970	G	C	156268970	3	2	443	1	0	0	0	0	1	0	0	0	9339	1232	43	4	38	4	MAP9	4	156268970	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7195241	156268970	34885306	146	86807											
FSTL5	56884	broad.mit.edu	37	chr4	162697188	162697188	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtaaatctaatagcatatTtttcatcttgctgtattcag	11	19	5	6	0	4	0	2	0	2	0	4	0	4	0	0	0	2	4	0	0	6	10			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:162697188T>G	ENST00000306100.5	-	5	884	c.448A>C	c.(448-450)Aat>Cat	p.N150H	FSTL5_ENST00000536695.1_Missense_Mutation_p.N149H|FSTL5_ENST00000427802.2_Missense_Mutation_p.N149H|FSTL5_ENST00000379164.4_Missense_Mutation_p.N149H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	150						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATAGCATATTTTTCATCTTG	0.279													13	17					0	0	0	0	G	162697188	T	G	162697188	3	3	443	1	0	0	0	0	1	0	0	0	6128	1841	64	5	2143	5	FSTL5	4	162697188	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	6428218	162697188	28457088	147	86808											
SCRG1	11341	broad.mit.edu	37	chr4	174312580	174312580	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattttggcttttggccCtgaaatagaagaaagaccaa	13	13	8	7	0	1	4	1	1	0	3	1	4	1	4	2	2	0	1	2	2	5	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:174312580C>G	ENST00000296506.2	-	2	469		c.e2-1			NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1						nervous system development	extracellular space				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GCTTTTGGCCCTGAAATAGAA	0.383													20	82					0	0	0	0	G	174312580	C	G	174312580	5	3	443	1	0	0	0	0	0	0	1	0	14023	695	24	4		4	SCRG1	4	174312580	Splice_Site	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	11615392	174312580	16841696	148	86809											
SEMA5A	9037	broad.mit.edu	37	chr5	9154724	9154724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgggctccctccgcctctCagggaagagctcaatctctt	7	10	10	14	1	3	1	2	0	2	1	7	3	5	2	3	2	1	2	3	2	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:9154724C>G	ENST00000382496.5	-	12	2022	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		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	453	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCCGCCTCTCAGGGAAGAGC	0.562													6	193					0	0	0	0	G	9154724	C	G	9154724	3	3	443	1	0	0	0	0	1	0	0	0	14124	835	29	2	1915	2	SEMA5A	5	9154724	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		9154724	171760536	149	86810											
DNAH5	1767	broad.mit.edu	37	chr5	13859656	13859656	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagctctcgatgatgtctgTtgagttggaaaggtactgca	9	12	12	8	1	2	2	0	2	2	0	3	4	2	3	1	2	3	5	1	2	2	3	rs80164898		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:13859656T>A	ENST00000265104.4	-	30	4959	c.4855A>T	c.(4855-4857)Aca>Tca	p.T1619S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1619	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGATGTCTGTTGAGTTGGAA	0.413									Kartagener syndrome				39	182					0	0	0	0	A	13859656	T	A	13859656	3	1	443	1	0	0	0	0	1	0	0	0	4641	1725	60	5	9219	5	DNAH5	5	13859656	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	4704932	13859656	167055604	150	86811											
PDZD2	23037	broad.mit.edu	37	chr5	32074069	32074069	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagcccacaggccctcCgaaaccctctcctccgccag	8	4	8	21	3	1	0	0	0	1	0	4	2	3	1	8	2	2	0	8	2	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:32074069C>T	ENST00000438447.1	+	18	3245	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R953*			O15018	PDZD2_HUMAN	PDZ domain containing 2	953					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGGCCCTCCGAAACCCTCT	0.592													10	96					0	0	0	0	T	32074069	C	T	32074069	4	4	443	1	0	0	0	0	0	1	0	0	11772	644	23	1	2923	1	PDZD2	5	32074069	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	18214413	32074069	148841191	151	86812											
TARS	6897	broad.mit.edu	37	chr5	33461810	33461810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgaatttggtgaaaagtgGgagttaaactctggagatgg	14	11	14	2	0	1	3	0	2	1	1	1	5	1	4	0	4	1	1	0	4	6	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:33461810G>C	ENST00000265112.3	+	14	1901	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	TARS_ENST00000455217.2_Missense_Mutation_p.W563C|TARS_ENST00000502553.1_Missense_Mutation_p.W530C|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000541634.1_Missense_Mutation_p.W426C|TARS_ENST00000414361.2_Missense_Mutation_p.W409C	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	530					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GTGAAAAGTGGGAGTTAAACT	0.358													6	141					0	0	0	0	C	33461810	G	C	33461810	3	2	443	1	0	0	0	0	1	0	0	0	15650	1241	43	4	1644	4	TARS	5	33461810	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1387741	33461810	147453450	152	86813											
NIPBL	25836	broad.mit.edu	37	chr5	36995843	36995843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaagcgtagcacagttaatGaaaagccaaaatatgctgaa	18	7	9	7	1	0	2	0	2	0	0	0	2	0	2	1	0	4	5	1	0	9	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:36995843G>C	ENST00000282516.8	+	11	3740	c.3241G>C	c.(3241-3243)Gaa>Caa	p.E1081Q	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.E1081Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1081					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CACAGTTAATGAAAAGCCAAA	0.363													6	127					0	0	0	0	C	36995843	G	C	36995843	3	2	443	1	0	0	0	0	1	0	0	0	10498	1291	45	2	3279	2	NIPBL	5	36995843	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3534033	36995843	143919417	153	86814											
C5orf51	285636	broad.mit.edu	37	chr5	41917317	41917317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaagtatgtatctgtGtgtgaaggacccctgaaaga	14	11	11	5	0	1	4	0	3	1	1	1	5	1	5	2	1	0	2	2	1	6	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:41917317G>A	ENST00000381647.2	+	6	820	c.801G>A	c.(799-801)gtG>gtA	p.V267V		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	267										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGTATCTGTGTGTGAAGGAC	0.393													23	60					0	0	0	0	A	41917317	G	A	41917317	2	1	443	1	0	0	0	0	0	0	0	1	2329	1364	48	4		4	C5orf51	5	41917317	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4921474	41917317	138997943	154	86815											
DEPDC1B	55789	broad.mit.edu	37	chr5	59940657	59940657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaattgacaagtttgacGtctaaaacttcttctaagga	13	14	7	7	2	3	2	0	2	3	0	4	4	3	3	0	1	1	1	0	1	5	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:59940657G>C	ENST00000265036.5	-	5	691	c.624C>G	c.(622-624)gaC>gaG	p.D208E	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.D181E|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.D208E	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	208	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CAAGTTTGACGTCTAAAACTT	0.299													3	29					0	0	0	0	C	59940657	G	C	59940657	3	2	443	1	0	0	0	0	1	0	0	0	4477	1136	40	3	993	3	DEPDC1B	5	59940657	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	18023340	59940657	120974603	155	86816											
ZNF366	167465	broad.mit.edu	37	chr5	71739685	71739685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtaatcagaaaaagagggGccccgccgggtactctgaaa	15	5	12	9	2	2	3	1	1	1	2	2	3	2	3	3	3	1	2	3	3	6	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:71739685G>A	ENST00000318442.5	-	5	2623	c.2133C>T	c.(2131-2133)ggC>ggT	p.G711G		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AAAAAGAGGGGCCCCGCCGGG	0.502													38	78					0	0	0	0	A	71739685	G	A	71739685	2	1	443	1	0	0	0	0	0	0	0	1	17965	1190	42	4		4	ZNF366	5	71739685	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	11799028	71739685	109175575	156	86817											
F2R	2149	broad.mit.edu	37	chr5	76028555	76028555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttccggcagtgattggCagtttgggtctgaattgtgt	6	16	13	6	1	1	2	0	2	1	0	2	2	2	2	1	3	0	3	1	3	1	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:76028555C>G	ENST00000319211.4	+	2	770	c.505C>G	c.(505-507)Cag>Gag	p.Q169E		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	169					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CAGTGATTGGCAGTTTGGGTC	0.498													82	168					0	0	0	0	G	76028555	C	G	76028555	3	3	443	1	0	0	0	0	1	0	0	0	5381	711	25	4	511	4	F2R	5	76028555	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4288870	76028555	104886705	157	86818											
VCAN	1462	broad.mit.edu	37	chr5	82789630	82789630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatttccccagatatcccAtccgggctcccagagtaggc	8	11	8	14	1	0	2	0	0	0	2	4	2	4	2	5	2	0	2	5	2	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:82789630A>G	ENST00000265077.3	+	5	1193	c.628A>G	c.(628-630)Atc>Gtc	p.I210V	VCAN_ENST00000343200.5_Missense_Mutation_p.I210V|VCAN_ENST00000513984.1_Missense_Mutation_p.I210V|VCAN_ENST00000512590.2_Missense_Mutation_p.I162V|VCAN_ENST00000342785.4_Missense_Mutation_p.I210V|VCAN_ENST00000502527.2_Missense_Mutation_p.I210V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	210	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGATATCCCATCCGGGCTCC	0.478													52	59					0	0	0	0	G	82789630	A	G	82789630	3	3	443	1	0	0	0	0	1	0	0	0	17234	217	8	5	642	5	VCAN	5	82789630	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	6761075	82789630	98125630	158	86819											
GPR98	84059	broad.mit.edu	37	chr5	90055237	90055237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcataggttactgcaatGatagaaatcaccataattga	15	13	6	7	0	2	3	2	2	0	1	2	3	2	3	1	1	2	2	1	1	6	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:90055237G>C	ENST00000405460.2	+	58	12048	c.11952G>C	c.(11950-11952)atG>atC	p.M3984I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3984	Calx-beta 26.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACTGCAATGATAGAAATCA	0.388													4	0					0	0	0	0	C	90055237	G	C	90055237	3	2	443	1	0	0	0	0	1	0	0	0	6771	1290	45	2	12182	2	GPR98	5	90055237	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7265607	90055237	90860023	159	86820											
RHOBTB3	22836	broad.mit.edu	37	chr5	95072637	95072637	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttctcgaaatctaattggGggcgctgacatcattgtgat	10	13	10	8	2	3	2	1	2	2	0	4	3	3	2	0	2	0	1	0	2	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:95072637G>C	ENST00000379982.3	+	3	781	c.273G>C	c.(271-273)ggG>ggC	p.G91G		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	91	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATCTAATTGGGGGCGCTGACA	0.333													10	59					0	0	0	0	C	95072637	G	C	95072637	2	2	443	1	0	0	0	0	0	0	0	1	13418	1219	43	4		4	RHOBTB3	5	95072637	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5017400	95072637	85842623	160	86821											
HSD17B4	3295	broad.mit.edu	37	chr5	118835213	118835213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgatgggtggaggattaGcagaaattcctggactttca	11	12	12	6	0	1	2	1	1	0	1	2	5	2	5	1	4	1	1	1	4	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:118835213G>C	ENST00000504811.1	+	14	1433	c.1249G>C	c.(1249-1251)Gca>Cca	p.A417P	HSD17B4_ENST00000509514.1_Missense_Mutation_p.A130P|HSD17B4_ENST00000510025.1_Missense_Mutation_p.A368P|HSD17B4_ENST00000515320.1_Missense_Mutation_p.A374P|HSD17B4_ENST00000513628.1_Missense_Mutation_p.A255P|HSD17B4_ENST00000256216.6_Missense_Mutation_p.A392P|HSD17B4_ENST00000414835.2_Missense_Mutation_p.A252P	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	392	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TGGAGGATTAGCAGAAATTCC	0.318													6	151					0	0	0	0	C	118835213	G	C	118835213	3	2	443	1	0	0	0	0	1	0	0	0	7436	971	34	4	1224	4	HSD17B4	5	118835213	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	23762576	118835213	62080047	161	86822											
P4HA2	8974	broad.mit.edu	37	chr5	131543487	131543487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatgtgcgggctgtcccactCgtcctcctctttgaaggggg	4	11	14	12	2	1	1	0	1	1	0	5	2	4	1	3	3	1	1	3	3	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:131543487C>G	ENST00000401867.1	-	9	1562	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	P4HA2_ENST00000379086.1_Missense_Mutation_p.E332Q|P4HA2_ENST00000379100.2_Missense_Mutation_p.E332Q|P4HA2_ENST00000379104.2_Missense_Mutation_p.E332Q|P4HA2_ENST00000360568.3_Missense_Mutation_p.E332Q|P4HA2_ENST00000166534.4_Missense_Mutation_p.E332Q			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	332						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGTCCCACTCGTCCTCCTCT	0.527													24	146					0	0	0	0	G	131543487	C	G	131543487	3	3	443	1	0	0	0	0	1	0	0	0	11428	893	31	3	709	3	P4HA2	5	131543487	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	12708274	131543487	49371773	162	86823											
TGFBI	7045	broad.mit.edu	37	chr5	135392397	135392397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggactgacggagaccCtcaaccgggaaggagtctac	11	5	13	12	2	2	2	1	1	1	1	2	6	2	5	2	4	3	1	2	4	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:135392397C>G	ENST00000442011.2	+	12	1752	c.1591C>G	c.(1591-1593)Ctc>Gtc	p.L531V	TGFBI_ENST00000305126.8_Missense_Mutation_p.L531V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	531	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACGGAGACCCTCAACCGGGA	0.502													4	46					0	0	0	0	G	135392397	C	G	135392397	3	3	443	1	0	0	0	0	1	0	0	0	15914	681	24	4	1637	4	TGFBI	5	135392397	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3848910	135392397	45522863	163	86824											
PCDHA13	56136	broad.mit.edu	37	chr5	140262214	140262214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggttttccatgtggagGtgaaggtgagggacattaac	10	11	15	5	0	0	2	0	2	0	0	1	4	1	4	1	5	2	2	1	5	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140262214G>C	ENST00000289272.2	+	1	361	c.361G>C	c.(361-363)Gtg>Ctg	p.V121L	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V121L|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGTGGAGGTGAAGGTGAG	0.542													14	202					0	0	0	0	C	140262214	G	C	140262214	3	2	443	1	0	0	0	0	1	0	0	0	11594	1261	44	4	363	4	PCDHA13	5	140262214	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4869817	140262214	40653046	164	86825											
PCDHB2	56133	broad.mit.edu	37	chr5	140476315	140476315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctggtggtgctggtcaaGgacaatggcgagcctccgcg	7	7	17	10	3	1	0	1	0	0	0	2	2	2	1	2	6	2	2	2	6	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140476315G>C	ENST00000194155.4	+	1	2089	c.1941G>C	c.(1939-1941)aaG>aaC	p.K647N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		647	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.716													11	81					0	0	0	0	C	140476315	G	C	140476315	3	2	443	1	0	0	0	0	1	0	0	0	11613	991	35	4	1943	4	PCDHB2	5	140476315	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	214101	140476315	40438945	165	86826											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751546	140751546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgagcagctgcgtgccttcGagctcactctgcaggcccgc	6	7	12	16	4	2	0	1	0	1	0	3	2	2	0	2	1	6	4	2	1	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140751546G>C	ENST00000576222.1	+	1	1716	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGCCTTCGAGCTCACTCT	0.692													11	58					0	0	0	0	C	140751546	G	C	140751546	3	2	443	1	0	0	0	0	1	0	0	0	11635	1059	37	3	1587	3	PCDHGB3	5	140751546	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	275231	140751546	40163714	166	86827											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762548	140762548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaccccctgggaagcctggGcaggacgtattctctactcc	7	8	12	14	1	1	0	0	0	1	0	3	3	2	3	4	4	2	2	4	4	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140762548G>C	ENST00000518325.1	+	1	82	c.82G>C	c.(82-84)Gca>Cca	p.A28P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCTGGGCAGGACGTAT	0.637													22	108					0	0	0	0	C	140762548	G	C	140762548	3	2	443	1	0	0	0	0	1	0	0	0	11630	1203	42	4	84	4	PCDHGA7	5	140762548	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	11002	140762548	40152712	167	86828											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768893	140768893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgatccggacttggggcCcaacggccaagtctcttact	7	11	10	13	2	2	1	0	1	2	0	4	2	3	2	3	4	2	0	3	4	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140768893C>G	ENST00000519479.1	+	1	1442	c.1442C>G	c.(1441-1443)cCc>cGc	p.P481R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTTGGGGCCCAACGGCCAA	0.582													14	111					0	0	0	0	G	140768893	C	G	140768893	3	3	443	1	0	0	0	0	1	0	0	0	11636	623	22	4	1444	4	PCDHGB4	5	140768893	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6345	140768893	40146367	168	86829											
PCDHGB7	56099	broad.mit.edu	37	chr5	140797444	140797444	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgatgggagggagctgcgcGcagaggcgccgggccggccc	6	2	20	13	6	0	1	0	0	0	1	0	4	0	3	3	5	2	2	3	5	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140797444G>T	ENST00000398594.2	+	1	18	c.18G>T	c.(16-18)gcG>gcT	p.A6A	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGCGCGCAGAggcgcc	0.627											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0.004672	0.00479388	1	0	T	140797444	G	T	140797444	2	4	443	1	0	0	0	0	0	0	0	1	11639	1074	38	3		3	PCDHGB7	5	140797444	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	28551	140797444	40117816	169	86830											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812340	140812340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagcatcccccaagtcCtggcggacctcggcagcctc	7	5	10	19	3	0	0	0	0	0	0	4	2	2	1	6	3	2	2	6	3	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140812340C>G	ENST00000252085.3	+	1	2156	c.2014C>G	c.(2014-2016)Ctg>Gtg	p.L672V	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCAAGTCCTGGCGGACCT	0.657													22	150					0	0	0	0	G	140812340	C	G	140812340	3	3	443	1	0	0	0	0	1	0	0	0	11624	680	24	4	2016	4	PCDHGA12	5	140812340	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	14896	140812340	40102920	170	86831											
YIPF5	81555	broad.mit.edu	37	chr5	143543740	143543740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaatcagtttcattcaTgatgctgccatctgctactt	9	15	6	11	0	4	1	3	1	1	0	4	1	4	1	2	0	5	3	2	0	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:143543740T>A	ENST00000274496.5	-	4	498	c.364A>T	c.(364-366)Atg>Ttg	p.M122L	YIPF5_ENST00000513112.1_Missense_Mutation_p.M68L|YIPF5_ENST00000448443.2_Missense_Mutation_p.M122L	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	122					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTTTCATTCATGATGCTGCCA	0.368													24	37					0	0	0	0	A	143543740	T	A	143543740	3	1	443	1	0	0	0	0	1	0	0	0	17577	1464	51	5	421	5	YIPF5	5	143543740	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	2731400	143543740	37371520	171	86832											
KIF4B	285643	broad.mit.edu	37	chr5	154394648	154394648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgtctgagcaaggcagCtggtcagacagcccagatgt	9	9	13	10	1	2	3	1	1	1	2	3	3	2	3	1	2	3	4	1	2	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:154394648C>A	ENST00000435029.4	+	1	1389	c.1229C>A	c.(1228-1230)gCt>gAt	p.A410D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	410					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCAAGGCAGCTGGTCAGACA	0.463													62	108					4.10029e-35	5.12898e-35	1	0	A	154394648	C	A	154394648	3	1	443	1	0	0	0	0	1	0	0	0	8355	797	28	4	1231	4	KIF4B	5	154394648	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	10850908	154394648	26520612	172	86833											
FAM71B	153745	broad.mit.edu	37	chr5	156589514	156589514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcggatgtcatagtgcCactgatcatctccagctcct	7	13	7	14	1	4	1	2	1	2	0	7	2	5	2	3	1	2	1	3	1	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:156589514C>T	ENST00000302938.4	-	2	1857	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	588						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATAGTGCCACTGATCATC	0.507													110	153					0	0	0	0	T	156589514	C	T	156589514	3	4	443	1	0	0	0	0	1	0	0	0	5654	594	21	4	59	4	FAM71B	5	156589514	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2194866	156589514	24325746	173	86834											
GABRG2	2566	broad.mit.edu	37	chr5	161524859	161524859	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggtcgagtgctctacacCctaaggtattcttttgcaaa	10	13	9	9	1	2	0	0	0	2	0	3	2	2	0	1	2	3	3	1	2	4	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:161524859C>A	ENST00000356592.3	+	4	1003	c.543C>A	c.(541-543)acC>acA	p.T181T	GABRG2_ENST00000393933.4_Silent_p.T86T|GABRG2_ENST00000361925.4_Silent_p.T181T|GABRG2_ENST00000414552.2_Silent_p.T181T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	181				T -> S (in Ref. 1; CAA33437).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGCTCTACACCCTAAGGTATT	0.373													29	66					7.01153e-11	7.87963e-11	1	0	A	161524859	C	A	161524859	2	1	443	1	0	0	0	0	0	0	0	1	6220	610	22	4		4	GABRG2	5	161524859	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4935345	161524859	19390401	174	86835											
NSD1	64324	broad.mit.edu	37	chr5	176684032	176684032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgtggaaagttttacCatgaagagtgtgtccagaag	11	12	12	6	0	0	3	0	1	0	2	1	4	1	4	3	1	1	1	3	1	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:176684032C>T	ENST00000439151.2	+	13	4891	c.4846C>T	c.(4846-4848)Cat>Tat	p.H1616Y	NSD1_ENST00000354179.4_Missense_Mutation_p.H1347Y|NSD1_ENST00000361032.4_Missense_Mutation_p.H1513Y|NSD1_ENST00000347982.4_Missense_Mutation_p.H1347Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1616			H -> L (in SOTOSS).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAGTTTTACCATGAAGAGTG	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			23	43					0	0	0	0	T	176684032	C	T	176684032	3	4	443	1	0	0	0	0	1	0	0	0	10740	594	21	4	4892	4	NSD1	5	176684032	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	15159173	176684032	4231228	175	86836											
NSD1	64324	broad.mit.edu	37	chr5	176707798	176707798	+	Frame_Shift_Del	DEL	G	G	-																															aattttccgcacattacagcGgggttggggtctacggacaa																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:176707798delG	ENST00000439151.2	+	18	5900	c.5855delG	c.(5854-5856)cgfs	p.R1952fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.R1849fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.R1683fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.R1683fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1952	S-adenosyl-L-methionine binding.|SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACATTACAGCGGGGTTGGGGT	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			30	52	---	---	---	---					-	176707798	G	-	176707798	7	5	443	1	0	1	0	1	0	0	0	0	10740	1116	39	0	5921	0	NSD1	5	176707798	Frame_Shift_Del	DEL	G	TCGA-KU-A66S-01A-21D-A30E-08	23766	176707798	4207462	176	86837											
GFPT2	9945	broad.mit.edu	37	chr5	179762901	179762901	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggtggcccagcgcgtgtgGgcaatgccgaagtgtgtctc	5	9	17	10	3	1	0	0	0	1	0	2	1	1	0	2	3	2	1	2	3	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:179762901G>C	ENST00000253778.8	-	4	436	c.267C>G	c.(265-267)gcC>gcG	p.A89A		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	89	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGCGCGTGTGGGCAATGCCGA	0.542													16	82					0	0	0	0	C	179762901	G	C	179762901	2	2	443	1	0	0	0	0	0	0	0	1	6397	1219	43	4		4	GFPT2	5	179762901	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3055103	179762901	1152359	177	86838											
EXOC2	55770	broad.mit.edu	37	chr6	633040	633040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgtcatttttggcttGtcccactcgacatactattt	6	19	5	11	1	1	0	1	0	0	0	4	1	3	0	2	1	1	1	2	1	2	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:633040G>C	ENST00000230449.4	-	3	331	c.196C>G	c.(196-198)Caa>Gaa	p.Q66E	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	66	IPT/TIG.				exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTTTGGCTTGTCCCACTCGA	0.428													13	59					0	0	0	0	C	633040	G	C	633040	3	2	443	1	0	0	0	0	1	0	0	0	5339	1386	48	4	2682	4	EXOC2	6	633040	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		633040	170482027	178	86839											
DSP	1832	broad.mit.edu	37	chr6	7583099	7583099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgacctgaatcagtggaaGactcaatattcccgcaagga	15	8	9	9	1	2	3	2	2	0	1	3	5	3	5	2	2	0	1	2	2	6	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:7583099G>C	ENST00000379802.3	+	24	5945	c.5604G>C	c.(5602-5604)aaG>aaC	p.K1868N	DSP_ENST00000418664.2_Missense_Mutation_p.K1269N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1868	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAGTGGAAGACTCAATATT	0.448													6	88					0	0	0	0	C	7583099	G	C	7583099	3	2	443	1	0	0	0	0	1	0	0	0	4817	933	33	2	5698	2	DSP	6	7583099	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6950059	7583099	163531968	179	86840											
MBOAT1	154141	broad.mit.edu	37	chr6	20118762	20118762	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagccagctgcgttattcActgcatcagctatggttttt	9	14	8	10	1	2	0	2	0	0	0	2	0	2	0	1	1	5	5	1	1	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:20118762A>C	ENST00000541730.1	-	8	1065	c.470T>G	c.(469-471)gTg>gGg	p.V157G	MBOAT1_ENST00000324607.7_Missense_Mutation_p.V306G			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	306					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGCGTTATTCACTGCATCAGC	0.393													18	27					0	0	0	0	C	20118762	A	C	20118762	3	2	443	1	0	0	0	0	1	0	0	0	9425	159	6	5	590	5	MBOAT1	6	20118762	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	12535663	20118762	150996305	180	86841											
KIAA0319	9856	broad.mit.edu	37	chr6	24588916	24588916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgggatgctgtgctctGtactccccggggtgactgtg	3	13	16	9	1	1	1	0	1	1	0	2	2	2	2	2	3	3	4	2	3	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:24588916G>C	ENST00000535378.1	-	5	1514	c.872C>G	c.(871-873)aCa>aGa	p.T291R	KIAA0319_ENST00000378214.3_Missense_Mutation_p.T300R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.T255R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.T300R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.T300R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	300					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCTGTGCTCTGTACTCCCCGG	0.582													47	71					0	0	0	0	C	24588916	G	C	24588916	3	2	443	1	0	0	0	0	1	0	0	0	8219	1377	48	4	2391	4	KIAA0319	6	24588916	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4470154	24588916	146526151	181	86842											
ZFP57	346171	broad.mit.edu	37	chr6	29640516	29640516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctttatagcccctccagtGatccataaggccctctttct	7	13	6	15	0	2	1	0	1	2	0	4	1	4	1	6	1	1	0	6	1	3	5	rs79020217		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:29640516G>A	ENST00000376883.1	-	6	1723	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	ZFP57_ENST00000488757.1_Missense_Mutation_p.H458Y|ZFP57_ENST00000376881.3_Missense_Mutation_p.H438Y			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	374					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCCCTCCAGTGATCCATAAGG	0.562													24	50					0	0	0	0	A	29640516	G	A	29640516	3	1	443	1	0	0	0	0	1	0	0	0	17746	1290	45	2	242	2	ZFP57	6	29640516	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5051600	29640516	141474551	182	86843											
TRIM10	10107	broad.mit.edu	37	chr6	30128347	30128347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccgtgctcttggcagacatCctcctctcccaaacccagtg	7	10	7	17	1	2	1	0	0	2	1	6	1	5	1	5	1	2	2	5	1	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:30128347C>T	ENST00000449742.2	-	1	364	c.289G>A	c.(289-291)Gat>Aat	p.D97N	TRIM10_ENST00000376704.3_Missense_Mutation_p.D97N	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	97						cytoplasm	zinc ion binding			ovary(1)	1						TGGCAGACATCCTCCTCTCCC	0.592													55	78					0	0	0	0	T	30128347	C	T	30128347	3	4	443	1	0	0	0	0	1	0	0	0	16581	855	30	2	1272	2	TRIM10	6	30128347	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	487831	30128347	140986720	183	86844											
C6orf25	80739	broad.mit.edu	37	chr6	31691642	31691642	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtatccggcggctggagctCctcttgagcgcgggggactc	4	8	17	12	4	1	1	0	1	1	0	4	3	3	3	2	6	2	3	2	6	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:31691642C>G	ENST00000375809.3	+	2	299	c.288C>G	c.(286-288)ctC>ctG	p.L96L	C6orf25_ENST00000480039.1_Silent_p.L96L|C6orf25_ENST00000375810.4_Silent_p.L96L|C6orf25_ENST00000375805.2_Silent_p.L96L	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	96						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GGCTGGAGCTCCTCTTGAGCG	0.662													10	140					0	0	0	0	G	31691642	C	G	31691642	2	3	443	1	0	0	0	0	0	0	0	1	2381	842	30	2		2	C6orf25	6	31691642	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1563295	31691642	139423425	184	86845											
HLA-DQB1	3119	broad.mit.edu	37	chr6	32629760	32629760	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacgccactccacggtgatGgggctctggaggctggggtg	5	9	17	10	2	1	1	0	1	1	0	2	2	2	2	2	7	1	2	2	7	1	1	rs9273922		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:32629760G>T	ENST00000399084.1	-	4	823	c.645C>A	c.(643-645)ccC>ccA	p.P215P	HLA-DQB1_ENST00000374943.4_Silent_p.P215P|HLA-DQB1_ENST00000399079.3_Silent_p.P215P|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Silent_p.P215P|HLA-DQB1_ENST00000399082.3_Silent_p.P125P			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	215	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCACGGTGATGGGGCTCTGGA	0.542									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				19	43					7.26314e-15	8.47167e-15	1	0	T	32629760	G	T	32629760	2	4	443	1	0	0	0	0	0	0	0	1	7256	1335	47	4		4	HLA-DQB1	6	32629760	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	938118	32629760	138485307	185	86846											
RGL2	5863	broad.mit.edu	37	chr6	33261401	33261401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccactgcgagatgacCaatgttggccgaagcacccg	9	8	11	13	3	1	2	0	1	1	1	2	4	2	2	4	1	2	2	4	1	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:33261401C>T	ENST00000497454.1	-	14	2079	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_3'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	528					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCGAGATGACCAATGTTGGCC	0.582													26	49					0	0	0	0	T	33261401	C	T	33261401	2	4	443	1	0	0	0	0	0	0	0	1	13359	593	21	4		4	RGL2	6	33261401	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	631641	33261401	137853666	186	86847											
MRPL2	51069	broad.mit.edu	37	chr6	43023334	43023335	+	In_Frame_Ins	INS	-	-	CGCAGT																															tggctgtgccattcaccttcINScgcagtagcacaccacacgt																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:43023334_43023335insCGCAGT	ENST00000388752.3	-	6	1077_1078	c.653_654insACTGCG	c.(652-654)caa>cACTGCGaa	p.218_218Q>HCE	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	218					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CATTCACCTTCCGCAGTAGCAC	0.545													14	74	---	---	---	---					CGCAGT	43023335	-	CGCAGT	43023334	7	5	443	1	0	1	1	0	0	0	0	0	9855	842	30	0	271	0	MRPL2	6	43023334	In_Frame_Ins	INS	-	TCGA-KU-A66S-01A-21D-A30E-08	9761933	43023334	128091733	187	86848											
MEP1A	4224	broad.mit.edu	37	chr6	46800830	46800830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggagatgatgaccacaattgGaaaattgcccatgtggtgct	12	10	12	7	0	0	3	0	2	0	1	0	5	0	4	2	3	2	1	2	3	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:46800830G>C	ENST00000230588.4	+	11	1173	c.1164G>C	c.(1162-1164)tgG>tgC	p.W388C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	388	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.W388C(1)|p.W388*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACCACAATTGGAAAATTGCCC	0.463													10	93					0	0	0	0	C	46800830	G	C	46800830	3	2	443	1	0	0	0	0	1	0	0	0	9544	1183	41	2	1206	2	MEP1A	6	46800830	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3777496	46800830	124314237	188	86849											
MCM3	4172	broad.mit.edu	37	chr6	52141929	52141929	+	Frame_Shift_Del	DEL	G	G	-																															gaggagccccggccagtggtGgggatagctcggggtgcagt																								rs77113422	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:52141929delG	ENST00000596288.1	-	8	1263	c.1236delC	c.(1234-1236)ccfs	p.P412fs	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Frame_Shift_Del_p.P321fs|MCM3_ENST00000229854.7_Frame_Shift_Del_p.P367fs	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	367	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGCCAGTGGTGGGGATAGCTC	0.602													24	34	---	---	---	---					-	52141929	G	-	52141929	7	5	443	1	0	1	0	1	0	0	0	0	9456	1335	47	0	1365	0	MCM3	6	52141929	Frame_Shift_Del	DEL	G	TCGA-KU-A66S-01A-21D-A30E-08	5341099	52141929	118973138	189	86850											
FBXO9	26268	broad.mit.edu	37	chr6	52960428	52960428	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaggttcaacaaactcAtctggatacatcattcttgt	13	12	6	10	0	5	1	3	0	2	1	5	2	5	2	1	2	3	1	1	2	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:52960428A>G	ENST00000244426.6	+	11	1373	c.1201A>G	c.(1201-1203)Atc>Gtc	p.I401V	FBXO9_ENST00000370939.3_Missense_Mutation_p.I357V|FBXO9_ENST00000323557.7_Missense_Mutation_p.I391V	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	401						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CAACAAACTCATCTGGATACA	0.378													18	36					0	0	0	0	G	52960428	A	G	52960428	3	3	443	1	0	0	0	0	1	0	0	0	5807	217	8	5	1250	5	FBXO9	6	52960428	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	818499	52960428	118154639	190	86851											
TINAG	27283	broad.mit.edu	37	chr6	54212180	54212180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaggtgtggctgctgaccGaatagcaattcagtctaagg	12	9	12	8	1	2	1	1	1	1	0	2	2	2	1	1	3	3	3	1	3	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:54212180G>A	ENST00000259782.4	+	6	860	c.764G>A	c.(763-765)cGa>cAa	p.R255Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	255					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTGCTGACCGAATAGCAATT	0.398													20	26					0	0	0	0	A	54212180	G	A	54212180	3	1	443	1	0	0	0	0	1	0	0	0	16015	1058	37	1	786	1	TINAG	6	54212180	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1251752	54212180	116902887	191	86852											
OOEP	441161	broad.mit.edu	37	chr6	74079503	74079503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggactcagcggcaccagCatcatcgaccatactgggac	10	6	11	14	2	2	0	2	0	0	0	3	3	2	2	2	3	3	2	2	3	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:74079503C>G	ENST00000370359.5	-	1	12	c.13G>C	c.(13-15)Gct>Cct	p.A5P	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	5						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGCACCAGCATCATCGACC	0.652													4	131					0	0	0	0	G	74079503	C	G	74079503	3	3	443	1	0	0	0	0	1	0	0	0	10941	710	25	4	448	4	OOEP	6	74079503	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	19867323	74079503	97035564	192	86853											
FILIP1	27145	broad.mit.edu	37	chr6	76022999	76022999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatacctgtctagaacagaaGatctttccacgggtttcttc	10	13	8	10	1	3	3	0	0	3	3	5	4	4	3	2	1	2	1	2	1	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:76022999G>A	ENST00000393004.2	-	5	2770	c.2549C>T	c.(2548-2550)tCt>tTt	p.S850F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S751F|FILIP1_ENST00000237172.7_Missense_Mutation_p.S850F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	850										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGAACAGAAGATCTTTCCAC	0.448													64	107					0	0	0	0	A	76022999	G	A	76022999	3	1	443	1	0	0	0	0	1	0	0	0	5939	942	33	2	1100	2	FILIP1	6	76022999	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1943496	76022999	95092068	193	86854											
DOPEY1	23033	broad.mit.edu	37	chr6	83847178	83847178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagaggattctcaaatGcccaaggaaagctccccaga	14	5	9	13	0	1	2	1	0	1	2	3	4	2	4	4	2	2	1	4	2	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:83847178G>C	ENST00000349129.2	+	21	3677	c.3417G>C	c.(3415-3417)atG>atC	p.M1139I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1130I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1120I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1139					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATTCTCAAATGCCCAAGGAAA	0.453													20	44					0	0	0	0	C	83847178	G	C	83847178	3	2	443	1	0	0	0	0	1	0	0	0	4743	1319	46	4	3491	4	DOPEY1	6	83847178	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7824179	83847178	87267889	194	86855											
USP45	85015	broad.mit.edu	37	chr6	99912603	99912603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatatttattcattcttccCcaaagtaaaggttttgaaac	13	16	4	8	0	2	1	1	1	1	0	3	1	3	1	2	1	1	2	2	1	7	10			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:99912603C>G	ENST00000327681.6	-	13	1717	c.1185G>C	c.(1183-1185)tgG>tgC	p.W395C	USP45_ENST00000369233.2_Intron|USP45_ENST00000392738.2_Missense_Mutation_p.W75C|USP45_ENST00000500704.2_Missense_Mutation_p.W395C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	395					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCATTCTTCCCCAAAGTAAAG	0.338													7	31					0	0	0	0	G	99912603	C	G	99912603	3	3	443	1	0	0	0	0	1	0	0	0	17172	624	22	4	1283	4	USP45	6	99912603	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	16065425	99912603	71202464	195	86856											
AIM1	202	broad.mit.edu	37	chr6	106975295	106975295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttggaaaggcacgaagaaGcagagtctgataagccagtg	14	8	13	6	1	1	3	0	1	1	2	1	5	1	4	1	2	2	2	1	2	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:106975295G>C	ENST00000369066.3	+	5	3791	c.3304G>C	c.(3304-3306)Gca>Cca	p.A1102P		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1102	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACGAAGAAGCAGAGTCTGA	0.413													33	201					0	0	0	0	C	106975295	G	C	106975295	3	2	443	1	0	0	0	0	1	0	0	0	430	971	34	4	3322	4	AIM1	6	106975295	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7062692	106975295	64139772	196	86857											
SOBP	55084	broad.mit.edu	37	chr6	107955276	107955276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgcagcagatccgcccgCccttcatccgcgggcctccg	5	7	10	19	5	2	1	2	0	0	1	5	1	5	1	6	1	2	2	6	1	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:107955276C>G	ENST00000317357.5	+	6	1887	c.1228C>G	c.(1228-1230)Ccc>Gcc	p.P410A		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	410	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GATCCGCCCGCCCTTCATCCG	0.697													30	152					0	0	0	0	G	107955276	C	G	107955276	3	3	443	1	0	0	0	0	1	0	0	0	15000	739	26	4	1250	4	SOBP	6	107955276	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	979981	107955276	63159791	197	86858											
NR2E1	7101	broad.mit.edu	37	chr6	108497823	108497823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actttccctcggcggcgctcCctgcgccggccttcttcacc	2	10	9	20	5	2	0	1	0	1	0	5	0	4	0	5	3	1	1	5	3	0	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:108497823C>G	ENST00000368986.4	+	4	1084	c.376C>G	c.(376-378)Cct>Gct	p.P126A	NR2E1_ENST00000368983.3_Missense_Mutation_p.P163A|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	126					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGCGGCGCTCCCTGCGCCGGC	0.706													5	15					0	0	0	0	G	108497823	C	G	108497823	3	3	443	1	0	0	0	0	1	0	0	0	10696	623	22	4	390	4	NR2E1	6	108497823	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	542547	108497823	62617244	198	86859											
LAMA4	3910	broad.mit.edu	37	chr6	112471741	112471741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttgtagttgcttaacGgcatcactgagtctggtttt	6	16	11	8	1	2	1	1	1	1	0	2	1	2	1	0	2	3	7	0	2	2	6	rs70940810		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:112471741G>A	ENST00000230538.7	-	17	2542	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	LAMA4_ENST00000522006.1_Silent_p.A708A|LAMA4_ENST00000424408.2_Silent_p.A708A|LAMA4_ENST00000389463.4_Silent_p.A708A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	715	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTGCTTAACGGCATCACTGA	0.488													17	63					0	0	0	0	A	112471741	G	A	112471741	2	1	443	1	0	0	0	0	0	0	0	1	8661	1103	39	1		1	LAMA4	6	112471741	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3973918	112471741	58643326	199	86860											
SLC2A12	154091	broad.mit.edu	37	chr6	134350375	134350375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaagaccaaacatgtacttCcagccatggaaaacattggc	16	7	7	11	0	0	1	0	0	0	1	1	2	1	2	3	2	4	1	3	2	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:134350375C>A	ENST00000275230.5	-	2	743	c.588G>T	c.(586-588)tgG>tgT	p.W196C		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	196						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ACATGTACTTCCAGCCATGGA	0.428													42	63					1.22674e-20	1.49233e-20	1	0	A	134350375	C	A	134350375	3	1	443	1	0	0	0	0	1	0	0	0	14629	856	30	2	1281	2	SLC2A12	6	134350375	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	21878634	134350375	36764692	200	86861											
LATS1	9113	broad.mit.edu	37	chr6	150005544	150005544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctctgtccgttgctaggGtgagcttgaacaaatgctga	9	12	11	9	1	1	3	0	3	1	0	3	3	2	3	1	1	4	4	1	1	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:150005544G>C	ENST00000543571.1	-	4	1228	c.681C>G	c.(679-681)caC>caG	p.H227Q	LATS1_ENST00000392273.3_Missense_Mutation_p.H227Q|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.H227Q	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	227					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			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)		CGTTGCTAGGGTGAGCTTGAA	0.512													12	97					0	0	0	0	C	150005544	G	C	150005544	3	2	443	1	0	0	0	0	1	0	0	0	8699	1252	44	4	2731	4	LATS1	6	150005544	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	15655169	150005544	21109523	201	86862											
AKAP12	9590	broad.mit.edu	37	chr6	151673115	151673115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agattgtggaaatccatgagGagaatgaggtcgcatctggt	12	10	14	5	1	1	4	0	2	1	2	3	6	2	5	1	4	0	1	1	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:151673115G>A	ENST00000402676.2	+	4	3829	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K	AKAP12_ENST00000253332.1_Missense_Mutation_p.E1197K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1099K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1092K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1197					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AATCCATGAGGAGAATGAGGT	0.547													18	100					0	0	0	0	A	151673115	G	A	151673115	3	1	443	1	0	0	0	0	1	0	0	0	448	1175	41	2	3628	2	AKAP12	6	151673115	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1667571	151673115	19441952	202	86863											
ESR1	2099	broad.mit.edu	37	chr6	152163838	152163838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagactcgctactgtgcaGtgtgcaatgactatgcttca	10	11	11	9	1	1	2	1	1	0	1	2	3	1	2	0	1	4	4	0	1	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152163838G>T	ENST00000440973.1	+	4	929	c.559G>T	c.(559-561)Gtg>Ttg	p.V187L	ESR1_ENST00000206249.3_Missense_Mutation_p.V187L|ESR1_ENST00000456483.2_Missense_Mutation_p.V187L|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000544394.1_Missense_Mutation_p.V14L|ESR1_ENST00000338799.5_Missense_Mutation_p.V187L|ESR1_ENST00000443427.1_Missense_Mutation_p.V187L	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	187	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTACTGTGCAGTGTGCAATGA	0.478													21	39					2.32416e-17	2.77488e-17	1	0	T	152163838	G	T	152163838	3	4	443	1	0	0	0	0	1	0	0	0	5294	1029	36	4	565	4	ESR1	6	152163838	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	490723	152163838	18951229	203	86864											
SYNE1	23345	broad.mit.edu	37	chr6	152614863	152614863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttccaaagcttcatagaGtgtgcgctgcttctcactga	8	12	10	11	2	2	2	2	1	1	1	4	2	3	2	1	0	3	4	1	0	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152614863G>A	ENST00000367255.5	-	95	18473	c.17872C>T	c.(17872-17874)Ctc>Ttc	p.L5958F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L5958F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5887F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5570F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5887F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L482F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5958					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTCATAGAGTGTGCGCTGC	0.473										HNSCC(10;0.0054)			37	52					0	0	0	0	A	152614863	G	A	152614863	3	1	443	1	0	0	0	0	1	0	0	0	15536	1029	36	4	8802	4	SYNE1	6	152614863	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	451025	152614863	18500204	204	86865											
SYNE1	23345	broad.mit.edu	37	chr6	152651592	152651592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgccaaggctgacctGtgctgcgaaaaccttctttt	7	12	10	12	1	1	1	0	1	1	0	1	2	1	1	3	2	4	3	3	2	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152651592G>T	ENST00000367255.5	-	78	14829	c.14228C>A	c.(14227-14229)aCa>aAa	p.T4743K	SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743K|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672K|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4743					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTGACCTGTGCTGCGAAA	0.517										HNSCC(10;0.0054)			37	39					4.92203e-23	6.07107e-23	1	0	T	152651592	G	T	152651592	3	4	443	1	0	0	0	0	1	0	0	0	15536	1377	48	4	12514	4	SYNE1	6	152651592	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	36729	152651592	18463475	205	86866											
PACRG	135138	broad.mit.edu	37	chr6	163483325	163483325	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaacaagatcctacctgtCcttccacagctcattatccc	10	10	6	15	0	1	1	1	0	0	1	5	2	5	2	5	1	3	1	5	1	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:163483325C>A	ENST00000337019.3	+	4	659	c.435C>A	c.(433-435)gtC>gtA	p.V145V	PACRG_ENST00000366889.2_Silent_p.V145V|PACRG_ENST00000366888.2_Silent_p.V145V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	145										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCCTACCTGTCCTTCCACAGC	0.418													10	21					2.17888e-05	2.30246e-05	1	0	A	163483325	C	A	163483325	2	1	443	1	0	0	0	0	0	0	0	1	11441	842	30	2		2	PACRG	6	163483325	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	10831733	163483325	7631742	206	86867											
CARD11	84433	broad.mit.edu	37	chr7	2987336	2987336	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatatagcggctgagcatGtgccggttacactccacatt	9	12	10	10	2	0	2	0	2	0	0	1	2	1	2	2	2	4	3	2	2	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:2987336G>C	ENST00000396946.4	-	3	496	c.93C>G	c.(91-93)caC>caG	p.H31Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	31	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGAGCATGTGCCGGTTAC	0.512			Mis		DLBCL								24	150					0	0	0	0	C	2987336	G	C	2987336	3	2	443	1	0	0	0	0	1	0	0	0	2670	1368	48	4	3463	4	CARD11	7	2987336	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		2987336	156151327	207	86868											
COL28A1	340267	broad.mit.edu	37	chr7	7571410	7571410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatattccaaggagcgacCaggagtcaattggaaaatct	14	9	10	8	1	3	0	2	0	1	0	4	4	4	3	2	3	1	0	2	3	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:7571410C>A	ENST00000399429.3	-	3	390	c.250G>T	c.(250-252)Ggt>Tgt	p.G84C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	84	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AAGGAGCGACCAGGAGTCAAT	0.428													26	40					1.74197e-06	1.86584e-06	1	0	A	7571410	C	A	7571410	3	1	443	1	0	0	0	0	1	0	0	0	3716	594	21	4	3259	4	COL28A1	7	7571410	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4584074	7571410	151567253	208	86869											
ICA1	3382	broad.mit.edu	37	chr7	8178497	8178497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagatttcatgtctaataGttcatctatgggtcctttag	9	17	7	8	0	5	1	3	0	2	1	6	1	6	1	1	1	0	1	1	1	4	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:8178497G>C	ENST00000402384.3	-	12	1299	c.1033C>G	c.(1033-1035)Cta>Gta	p.L345V	ICA1_ENST00000401396.1_Missense_Mutation_p.L333V|ICA1_ENST00000265577.7_Missense_Mutation_p.L344V|ICA1_ENST00000396675.3_Missense_Mutation_p.L345V|ICA1_ENST00000406470.2_Missense_Mutation_p.L345V|ICA1_ENST00000422063.2_Missense_Mutation_p.L374V			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	345					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATGTCTAATAGTTCATCTATG	0.284													4	74					0	0	0	0	C	8178497	G	C	8178497	3	2	443	1	0	0	0	0	1	0	0	0	7530	1020	36	4	430	4	ICA1	7	8178497	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	607087	8178497	150960166	209	86870											
NXPH1	30010	broad.mit.edu	37	chr7	8791094	8791094	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtcagcttggtaccccctAcaaaaatcgtggaatttgac	11	11	8	11	1	1	1	1	1	0	0	2	2	1	2	2	2	3	2	2	2	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:8791094A>T	ENST00000405863.1	+	3	1422	c.511A>T	c.(511-513)Aca>Tca	p.T171S	NXPH1_ENST00000602349.1_Missense_Mutation_p.T54S|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	171	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGTACCCCCTACAAAAATCGT	0.393													14	26					0	0	0	0	T	8791094	A	T	8791094	3	4	443	1	0	0	0	0	1	0	0	0	10861	391	14	5	517	5	NXPH1	7	8791094	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	612597	8791094	150347569	210	86871											
THSD7A	221981	broad.mit.edu	37	chr7	11441499	11441499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgtataatcaccggtctgGatctgacctgtattccacca	9	13	7	12	1	3	1	1	1	2	0	4	2	4	2	4	2	0	2	4	2	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:11441499G>A	ENST00000423059.3	-	23	4585	c.4334C>T	c.(4333-4335)tCc>tTc	p.S1445F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1445	TSP type-1 15.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACCGGTCTGGATCTGACCTG	0.453										HNSCC(18;0.044)			11	64					0	0	0	0	A	11441499	G	A	11441499	3	1	443	1	0	0	0	0	1	0	0	0	15973	1174	41	2	663	2	THSD7A	7	11441499	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2650405	11441499	147697164	211	86872											
OSBPL3	26031	broad.mit.edu	37	chr7	24888722	24888722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacccgacttggcgacagcgGgggagtcgaggagcagagac	10	3	17	11	4	0	1	0	0	0	1	1	7	0	3	1	4	2	1	1	4	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:24888722G>C	ENST00000313367.2	-	12	1683	c.1232C>G	c.(1231-1233)cCc>cGc	p.P411R	OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P380R|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P380R|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000396429.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	411					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGCGACAGCGGGGGAGTCGAG	0.557													4	124					0	0	0	0	C	24888722	G	C	24888722	3	2	443	1	0	0	0	0	1	0	0	0	11350	1232	43	4	1479	4	OSBPL3	7	24888722	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	13447223	24888722	134249941	212	86873											
INHBA	3624	broad.mit.edu	37	chr7	41729258	41729258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggcaactctatgagcacCcacactcctccacgatcatg	10	8	7	16	1	2	1	1	1	1	0	4	2	4	1	3	1	2	2	3	1	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:41729258C>A	ENST00000242208.4	-	3	1517	c.1271G>T	c.(1270-1272)gGg>gTg	p.G424V	INHBA_ENST00000442711.1_Missense_Mutation_p.G424V|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	424					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTATGAGCACCCACACTCCTC	0.458										TSP Lung(11;0.080)			18	38					1.15919e-05	1.2286e-05	1	0	A	41729258	C	A	41729258	3	1	443	1	0	0	0	0	1	0	0	0	7794	623	22	4	13	4	INHBA	7	41729258	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	16840536	41729258	117409405	213	86874											
ZPBP	11055	broad.mit.edu	37	chr7	50121479	50121479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggactcttttgatggagCatgacatacgctttcactga	9	14	10	8	1	2	3	1	3	1	0	2	5	2	5	0	2	2	2	0	2	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:50121479C>G	ENST00000046087.2	-	3	294	c.225G>C	c.(223-225)atG>atC	p.M75I	ZPBP_ENST00000419417.1_Missense_Mutation_p.M75I	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	75					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTTGATGGAGCATGACATACG	0.353													9	33					0	0	0	0	G	50121479	C	G	50121479	3	3	443	1	0	0	0	0	1	0	0	0	18312	710	25	4	854	4	ZPBP	7	50121479	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	8392221	50121479	109017184	214	86875											
POM121L12	285877	broad.mit.edu	37	chr7	53103708	53103708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcgagacctctcctgtgCctgggagggttgcatgaaag	7	8	17	9	1	1	2	0	1	1	1	2	4	1	3	3	4	2	2	3	4	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:53103708C>A	ENST00000408890.4	+	1	360	c.344C>A	c.(343-345)gCc>gAc	p.A115D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	115										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTCTCCTGTGCCTGGGAGGGT	0.716													19	28					4.96729e-08	5.45247e-08	1	0	A	53103708	C	A	53103708	3	1	443	1	0	0	0	0	1	0	0	0	12313	739	26	4	346	4	POM121L12	7	53103708	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2982229	53103708	106034955	215	86876											
ZNF716	441234	broad.mit.edu	37	chr7	57509997	57509997	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtattcgcagatttatGgctaaaagaccgggaccccc	12	8	10	11	2	0	2	0	0	0	2	1	3	0	3	3	2	0	4	3	2	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:57509997G>C	ENST00000420713.1	+	1	115	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GCAGATTTATGGCTAAAAGAC	0.587													17	27					0	0	0	0	C	57509997	G	C	57509997	1	2	443	1	0	0	0	0	0	0	0	0	18214	1348	47	4		4	ZNF716	7	57509997	Translation_Start_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4406289	57509997	101628666	216	86877											
SEMA3E	9723	broad.mit.edu	37	chr7	83016326	83016326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtccaaagcactgctGagctgcatttccatgtcgaa	9	12	9	11	1	0	1	0	1	0	0	3	2	2	1	2	0	4	5	2	0	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:83016326G>T	ENST00000307792.3	-	15	2175	c.1708C>A	c.(1708-1710)Cag>Aag	p.Q570K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.Q510K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	570					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGCACTGCTGAGCTGCATTT	0.353													10	17					7.03913e-09	7.82371e-09	1	0	T	83016326	G	T	83016326	3	4	443	1	0	0	0	0	1	0	0	0	14115	1299	45	2	631	2	SEMA3E	7	83016326	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	25506329	83016326	76122337	217	86878											
ZNF804B	219578	broad.mit.edu	37	chr7	88956679	88956679	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgaaagaattaaagcaaCgggaatttgctcgaaatgta	17	9	10	5	2	0	2	0	1	0	1	1	5	0	3	0	1	3	3	0	1	8	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:88956679C>A	ENST00000333190.4	+	3	880	c.271C>A	c.(271-273)Cgg>Agg	p.R91R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	91						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTAAAGCAACGGGAATTTGC	0.338										HNSCC(36;0.09)			15	39					1.52009e-12	1.73305e-12	1	0	A	88956679	C	A	88956679	2	1	443	1	0	0	0	0	0	0	0	1	18264	527	19	3		3	ZNF804B	7	88956679	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	5940353	88956679	70181984	218	86879											
SLC25A13	10165	broad.mit.edu	37	chr7	95761098	95761098	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcttcctgggctaacctgCccatcttcatttgcaaagga	9	11	9	12	0	2	0	1	0	1	0	3	1	3	1	3	3	3	3	3	3	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:95761098C>G	ENST00000416240.2	-	15	1741	c.1551G>C	c.(1549-1551)ggG>ggC	p.G517G	SLC25A13_ENST00000265631.5_Silent_p.G516G|SLC25A13_ENST00000542654.1_Silent_p.G408G	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	516					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGCTAACCTGCCCATCTTCAT	0.547													3	39					0	0	0	0	G	95761098	C	G	95761098	2	3	443	1	0	0	0	0	0	0	0	1	14563	726	26	4		4	SLC25A13	7	95761098	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6804419	95761098	63377565	219	86880											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99110205	99110205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacagaagcctcgtctcctgGaggaaaatggtgaggctcag	11	7	13	10	1	2	2	1	1	1	1	4	4	2	4	2	4	1	1	2	4	3	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:99110205G>C	ENST00000394170.2	+	3	795	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E182Q|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E182Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	182					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCGTCTCCTGGAGGAAAATGG	0.582													5	33					0	0	0	0	C	99110205	G	C	99110205	3	2	443	1	0	0	0	0	1	0	0	0	17785	1175	41	2	550	2	ZKSCAN5	7	99110205	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3349107	99110205	60028458	220	86881											
ZSCAN21	7589	broad.mit.edu	37	chr7	99661734	99661734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggggagaaaccttacGtgtgcaccaagtgtgggaaa	13	7	13	8	1	0	1	0	0	0	1	0	3	0	2	2	3	3	1	2	3	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:99661734G>A	ENST00000292450.4	+	4	1080	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Silent_p.T271T|ZSCAN21_ENST00000456748.2_Silent_p.T271T	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	306					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V306M(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAAACCTTACGTGTGCACCAA	0.478													23	36					0	0	0	0	A	99661734	G	A	99661734	3	1	443	1	0	0	0	0	1	0	0	0	18325	1145	40	1	926	1	ZSCAN21	7	99661734	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	551529	99661734	59476929	221	86882											
POP7	10248	broad.mit.edu	37	chr7	100304576	100304576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgacatttatgtcaacatGaagacggactttaaggccca	15	10	8	8	1	1	3	1	2	0	1	1	4	1	4	1	2	1	0	1	2	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:100304576G>A	ENST00000303151.4	+	2	385	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	41					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGTCAACATGAAGACGGACT	0.592													13	139					0	0	0	0	A	100304576	G	A	100304576	3	1	443	1	0	0	0	0	1	0	0	0	12326	1290	45	2	125	2	POP7	7	100304576	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	642842	100304576	58834087	222	86883											
NRCAM	4897	broad.mit.edu	37	chr7	107880477	107880477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactctgcccgcagataagCgcttctttttcggcattatt	7	14	8	12	3	2	1	0	0	2	1	3	1	2	1	1	1	2	4	1	1	2	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:107880477C>A	ENST00000379028.3	-	4	502	c.32G>T	c.(31-33)cGc>cTc	p.R11L	NRCAM_ENST00000379024.4_Missense_Mutation_p.R11L|NRCAM_ENST00000425651.2_Missense_Mutation_p.R11L|NRCAM_ENST00000413765.2_Missense_Mutation_p.R11L|NRCAM_ENST00000351718.4_Missense_Mutation_p.R11L|NRCAM_ENST00000379022.4_Missense_Mutation_p.R11L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	11					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGCAGATAAGCGCTTCTTTTT	0.408													25	43					9.39395e-14	1.08498e-13	1	0	A	107880477	C	A	107880477	3	1	443	1	0	0	0	0	1	0	0	0	10715	768	27	3	4032	3	NRCAM	7	107880477	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	7575901	107880477	51258186	223	86884											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651351	121651351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatactcgcagacaacccaaCcggtatacaatggtgagaca	15	7	8	11	2	0	2	0	1	0	2	1	3	0	2	2	2	4	2	2	2	7	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:121651351C>G	ENST00000393386.2	+	12	2662	c.2251C>G	c.(2251-2253)Ccg>Gcg	p.P751A	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P751A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	751					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						GACAACCCAACCGGTATACAA	0.478													12	111					0	0	0	0	G	121651351	C	G	121651351	3	3	443	1	0	0	0	0	1	0	0	0	12896	507	18	4	2297	4	PTPRZ1	7	121651351	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	13770874	121651351	37487312	224	86885											
GRM8	2918	broad.mit.edu	37	chr7	126882899	126882899	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttctctattaatgcctgCacgaatgttagagactgctc	9	15	7	10	1	2	1	0	0	2	1	4	3	2	1	1	0	3	3	1	0	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:126882899C>A	ENST00000339582.2	-	2	1168	c.360G>T	c.(358-360)gtG>gtT	p.V120V	GRM8_ENST00000405249.1_Silent_p.V120V|GRM8_ENST00000358373.3_Silent_p.V120V|GRM8_ENST00000444921.2_Silent_p.V120V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	120					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTAATGCCTGCACGAATGTTA	0.498										HNSCC(24;0.065)			28	41					9.39395e-14	1.08498e-13	1	0	A	126882899	C	A	126882899	2	1	443	1	0	0	0	0	0	0	0	1	6853	697	25	4		4	GRM8	7	126882899	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	5231548	126882899	32255764	225	86886											
CPA2	1358	broad.mit.edu	37	chr7	129916556	129916556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccagtcacaaaccctgatgGatacgtgttctctcaaacca	12	9	7	13	1	3	1	2	1	1	0	4	2	3	2	3	1	3	1	3	1	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:129916556G>C	ENST00000222481.4	+	7	729	c.674G>C	c.(673-675)gGa>gCa	p.G225A		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	225					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AACCCTGATGGATACGTGTTC	0.423													8	77					0	0	0	0	C	129916556	G	C	129916556	3	2	443	1	0	0	0	0	1	0	0	0	3820	1174	41	2	700	2	CPA2	7	129916556	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3033657	129916556	29222107	226	86887											
EXOC4	60412	broad.mit.edu	37	chr7	133502284	133502284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgctgggagtgcagcGgcctctcctacaggtaataa	10	8	14	9	1	1	0	0	0	1	0	2	2	1	1	2	4	4	3	2	4	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:133502284G>T	ENST00000253861.4	+	11	1750	c.1721G>T	c.(1720-1722)cGg>cTg	p.R574L	EXOC4_ENST00000545148.1_Missense_Mutation_p.R184L|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000539845.1_Missense_Mutation_p.R473L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	574					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGAGTGCAGCGGCCTCTCCTA	0.398													6	24					0.00116845	0.00121299	1	0	T	133502284	G	T	133502284	3	4	443	1	0	0	0	0	1	0	0	0	5343	1116	39	3	1772	3	EXOC4	7	133502284	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3585728	133502284	25636379	227	86888											
PRSS1	5644	broad.mit.edu	37	chr7	142460328	142460328	+	Frame_Shift_Del	DEL	C	C	-																															ctggatgctcctgtgctgagCcaggctaagtgtgaagcctc																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142460328delC	ENST00000486171.1	+	5	560	c.543delC	c.(541-543)agfs	p.S181fs	PRSS1_ENST00000311737.7_Frame_Shift_Del_p.S167fs			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	167	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTGTGCTGAGCCAGGCTAAGT	0.527													52	324	---	---	---	---					-	142460328	C	-	142460328	7	5	443	1	0	1	0	1	0	0	0	0	12693	738	26	0	515	0	PRSS1	7	142460328	Frame_Shift_Del	DEL	C	TCGA-KU-A66S-01A-21D-A30E-08	8958044	142460328	16678335	228	86889											
CSMD1	64478	broad.mit.edu	37	chr8	3046419	3046419	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggactcacctgaattcccGagccctccgtaactatgatc	11	9	7	14	2	1	2	1	2	0	0	4	4	3	3	4	1	2	1	4	1	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:3046419G>T	ENST00000520002.1	-	36	6071	c.5516C>A	c.(5515-5517)tCg>tAg	p.S1839*	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S1838*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S1838*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.S1838*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1839	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAATTCCCGAGCCCTCCGT	0.468													4	16					0.00024832	0.000258926	1	0	T	3046419	G	T	3046419	4	4	443	1	0	0	0	0	0	1	0	0	3976	1059	37	3	5325	3	CSMD1	8	3046419	Nonsense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		3046419	143317603	229	86890											
ANGPT2	285	broad.mit.edu	37	chr8	6420344	6420344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtagctgcaggacccatGctggacctgatattgcttct	8	12	11	10	0	1	1	0	1	1	0	1	3	1	3	2	2	4	5	2	2	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:6420344G>T	ENST00000325203.5	-	1	586	c.112C>A	c.(112-114)Cat>Aat	p.H38N	ANGPT2_ENST00000338312.6_Missense_Mutation_p.H38N|ANGPT2_ENST00000523120.1_Missense_Mutation_p.H38N|ANGPT2_ENST00000415216.1_Missense_Mutation_p.H38N|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	38					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CAGGACCCATGCTGGACCTGA	0.532													16	59					2.23348e-06	2.38508e-06	1	0	T	6420344	G	T	6420344	3	4	443	1	0	0	0	0	1	0	0	0	611	1319	46	4	1414	4	ANGPT2	8	6420344	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3373925	6420344	139943678	230	86891											
SGK223	157285	broad.mit.edu	37	chr8	8234217	8234217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcactaaggtcagccaGcggtgacactgggggccctc	8	6	12	15	1	2	1	2	1	0	0	3	1	2	1	3	4	2	0	3	4	1	1	rs4840954		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:8234217G>C	ENST00000520004.1	-	3	1966	c.1702C>G	c.(1702-1704)Ctg>Gtg	p.L568V	SGK223_ENST00000330777.4_Missense_Mutation_p.L568V			Q86YV5	SG223_HUMAN		568							ATP binding|non-membrane spanning protein tyrosine kinase activity										AGGTCAGCCAGCGGTGACACT	0.662													19	87					0	0	0	0	C	8234217	G	C	8234217	3	2	443	1	0	0	0	0	1	0	0	0	14297	962	34	4	2522	4	SGK223	8	8234217	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1813873	8234217	138129805	231	86892											
RP1L1	94137	broad.mit.edu	37	chr8	10465632	10465632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgactctggctgggcCtccccttctgcctcctgggt	1	14	10	16	0	4	1	0	1	4	0	6	1	6	1	5	3	1	1	5	3	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:10465632C>G	ENST00000382483.3	-	4	6199	c.5976G>C	c.(5974-5976)gaG>gaC	p.E1992D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1992					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCTGGGCCTCCCCTTCTG	0.592													32	541					0	0	0	0	G	10465632	C	G	10465632	3	3	443	1	0	0	0	0	1	0	0	0	13618	680	24	4	1230	4	RP1L1	8	10465632	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2231415	10465632	135898390	232	86893											
DLC1	10395	broad.mit.edu	37	chr8	12956984	12956984	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggttcggtcgttgtcCacatccaggtgtatctgttt	4	16	13	8	2	1	0	0	0	1	0	5	0	3	0	2	4	0	4	2	4	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:12956984C>A	ENST00000276297.4	-	9	3271	c.2862G>T	c.(2860-2862)gtG>gtT	p.V954V	DLC1_ENST00000520226.1_Silent_p.V443V|DLC1_ENST00000358919.2_Silent_p.V517V|DLC1_ENST00000512044.2_Silent_p.V551V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	954					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGTCGTTGTCCACATCCAGGT	0.572													14	85					6.31663e-08	6.89087e-08	1	0	A	12956984	C	A	12956984	2	1	443	1	0	0	0	0	0	0	0	1	4587	581	21	4		4	DLC1	8	12956984	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2491352	12956984	133407038	233	86894											
SLC18A1	6570	broad.mit.edu	37	chr8	20004850	20004850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaccccagtgatgacCatgagccagggaaaaccgat	13	7	11	10	1	0	5	0	5	0	0	0	7	0	6	5	1	2	0	5	1	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:20004850C>G	ENST00000440926.1	-	16	1853	c.1383G>C	c.(1381-1383)atG>atC	p.M461I	SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.M429I|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000276373.5_Missense_Mutation_p.M461I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.M429I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	461					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CAGTGATGACCATGAGCCAGG	0.532													6	58					0	0	0	0	G	20004850	C	G	20004850	3	3	443	1	0	0	0	0	1	0	0	0	14513	594	21	4	202	4	SLC18A1	8	20004850	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	7047866	20004850	126359172	234	86895											
SFTPC	6440	broad.mit.edu	37	chr8	22020624	22020624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcattggggcgccggaagCccagcaacgcctggccctga	8	4	15	14	3	0	1	0	1	0	0	0	3	0	2	4	4	4	2	4	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:22020624C>G	ENST00000521315.1	+	3	265	c.233C>G	c.(232-234)gCc>gGc	p.A78G	SFTPC_ENST00000437090.2_Missense_Mutation_p.A78G|SFTPC_ENST00000524255.1_Missense_Mutation_p.A25G|SFTPC_ENST00000318561.3_Missense_Mutation_p.A78G|SFTPC_ENST00000522109.1_Missense_Mutation_p.A78G|SFTPC_ENST00000520605.1_Missense_Mutation_p.A25G			P11686	PSPC_HUMAN	surfactant protein C	78					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCGCCGGAAGCCCAGCAACGC	0.607													11	140					0	0	0	0	G	22020624	C	G	22020624	3	3	443	1	0	0	0	0	1	0	0	0	14279	739	26	4	243	4	SFTPC	8	22020624	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2015774	22020624	124343398	235	86896											
SLC39A14	23516	broad.mit.edu	37	chr8	22267528	22267528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggagtcctcgtcctgcCctgcacagagaaagcgtttt	7	10	11	13	2	0	1	0	0	0	1	3	3	2	2	4	1	3	2	4	1	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:22267528C>G	ENST00000359741.5	+	4	702	c.527C>G	c.(526-528)cCc>cGc	p.P176R	SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000289952.5_Intron|SLC39A14_ENST00000381237.1_Intron	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	176						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTCGTCCTGCCCTGCACAGAG	0.547													16	215					0	0	0	0	G	22267528	C	G	22267528	3	3	443	1	0	0	0	0	1	0	0	0	14705	623	22	4	537	4	SLC39A14	8	22267528	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	246904	22267528	124096494	236	86897											
PPP2CB	5516	broad.mit.edu	37	chr8	30657110	30657110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgaataatatcctctGtctacatagtcacccatgaa	13	12	4	12	0	3	2	1	2	2	0	5	2	5	2	3	0	1	0	3	0	6	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:30657110G>C	ENST00000221138.4	-	2	714	c.264C>G	c.(262-264)gaC>gaG	p.D88E	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'UTR	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	88					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AATATCCTCTGTCTACATAGT	0.348													11	149					0	0	0	0	C	30657110	G	C	30657110	3	2	443	1	0	0	0	0	1	0	0	0	12457	1368	48	4	689	4	PPP2CB	8	30657110	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8389582	30657110	115706912	237	86898											
UNC5D	137970	broad.mit.edu	37	chr8	35583899	35583899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcattccaggacttttccCcatggaaacaaccacagctt	13	10	5	13	0	1	0	1	0	0	0	3	2	3	2	4	2	3	1	4	2	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:35583899C>T	ENST00000287272.2	+	9	1346	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	UNC5D_ENST00000416672.1_Silent_p.P516P|UNC5D_ENST00000453357.2_Silent_p.P506P|UNC5D_ENST00000420357.1_Silent_p.P444P|UNC5D_ENST00000404895.2_Silent_p.P511P|UNC5D_ENST00000449677.1_Silent_p.P87P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	511					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGACTTTTCCCCATGGAAACA	0.468													16	90					0	0	0	0	T	35583899	C	T	35583899	2	4	443	1	0	0	0	0	0	0	0	1	17091	610	22	4		4	UNC5D	8	35583899	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4926789	35583899	110780123	238	86899											
ERLIN2	11160	broad.mit.edu	37	chr8	37611047	37611047	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatagccgaagccaataaGgtaaagaccccgcacagcct	17	4	8	12	2	0	1	0	0	0	1	0	2	0	1	5	1	3	2	5	1	8	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:37611047G>T	ENST00000276461.5	+	11	886	c.819_splice	c.e11+1	p.K273_splice	ERLIN2_ENST00000519638.1_Splice_Site_p.K273_splice	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	273	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAGCCAATAAGGTAAAGACCC	0.532													26	15					3.65163e-15	4.28039e-15	1	0	T	37611047	G	T	37611047	5	4	443	1	0	0	0	0	0	0	1	0	5271	1014	35	4	896	4	ERLIN2	8	37611047	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2027148	37611047	108752975	239	86900											
BRF2	55290	broad.mit.edu	37	chr8	37704676	37704676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagaactcgacaaaggtCtctcactcgccggagaccta	11	7	9	14	3	2	2	1	0	1	2	5	4	2	2	2	2	2	1	2	2	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:37704676C>G	ENST00000220659.6	-	3	352	c.232G>C	c.(232-234)Gac>Cac	p.D78H	BRF2_ENST00000520601.1_Missense_Mutation_p.D78H|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	78					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGACAAAGGTCTCTCACTCGC	0.527													6	128					0	0	0	0	G	37704676	C	G	37704676	3	3	443	1	0	0	0	0	1	0	0	0	1519	913	32	2	1035	2	BRF2	8	37704676	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	93629	37704676	108659346	240	86901											
WHSC1L1	54904	broad.mit.edu	37	chr8	38146196	38146196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagccacaagggttttcatCagctggcttgcagttacagc	10	10	10	11	0	2	0	2	0	0	0	2	0	2	0	1	2	5	5	1	2	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:38146196C>G	ENST00000317025.8	-	19	3827	c.3310G>C	c.(3310-3312)Gat>Cat	p.D1104H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D1104H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D1055H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1104	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGGTTTTCATCAGCTGGCTTG	0.502			T	NUP98	AML								7	104					0	0	0	0	G	38146196	C	G	38146196	3	3	443	1	0	0	0	0	1	0	0	0	17459	826	29	2	1027	2	WHSC1L1	8	38146196	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	441520	38146196	108217826	241	86902											
ADAM32	203102	broad.mit.edu	37	chr8	39089556	39089556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaacaggttcaagaaaTgctccatttgcctgctatga	12	13	7	9	0	1	2	1	1	0	1	2	2	2	2	2	1	4	3	2	1	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:39089556T>C	ENST00000379907.4	+	15	1663	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N	ADAM32_ENST00000519315.1_Silent_p.N406N|ADAM32_ENST00000437682.2_Silent_p.N413N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	512					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTTCAAGAAATGCTCCATTTG	0.338													37	72					0	0	0	0	C	39089556	T	C	39089556	2	2	443	1	0	0	0	0	0	0	0	1	249	1461	51	5		5	ADAM32	8	39089556	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	943360	39089556	107274466	242	86903											
MCM4	4173	broad.mit.edu	37	chr8	48882512	48882512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacagaaacttttttcagaGaaacgtgtggaattgcttaa	15	12	9	5	1	1	2	1	0	0	2	1	5	1	3	0	1	4	1	0	1	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:48882512G>C	ENST00000262105.2	+	10	1538	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.E443D	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	443					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TTTTTTCAGAGAAACGTGTGG	0.403													5	190					0	0	0	0	C	48882512	G	C	48882512	3	2	443	1	0	0	0	0	1	0	0	0	9458	933	33	2	1367	2	MCM4	8	48882512	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	9792956	48882512	97481510	243	86904											
PXDNL	137902	broad.mit.edu	37	chr8	52321305	52321305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagatgctcgttggccCggtggtccccggccaggaaa	7	6	15	13	3	0	1	0	0	0	1	2	3	1	2	5	5	2	2	5	5	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:52321305C>G	ENST00000356297.4	-	17	2979	c.2879G>C	c.(2878-2880)cGg>cCg	p.R960P	PXDNL_ENST00000543296.1_Missense_Mutation_p.R960P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	960		Transition state stabilizer (By similarity).			hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCGTTGGCCCGGTGGTCCCC	0.662													4	10					0	0	0	0	G	52321305	C	G	52321305	3	3	443	1	0	0	0	0	1	0	0	0	12930	652	23	3	1540	3	PXDNL	8	52321305	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3438793	52321305	94042717	244	86905											
CLVS1	157807	broad.mit.edu	37	chr8	62366709	62366709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttctgccccaggacagctttCctgcccgctttggaggagtc	5	11	11	14	1	1	0	0	0	1	0	3	3	2	3	4	3	3	2	4	3	0	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:62366709C>G	ENST00000519846.1	+	5	1112	c.640C>G	c.(640-642)Cct>Gct	p.P214A	CLVS1_ENST00000325897.4_Missense_Mutation_p.P214A|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	214	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGACAGCTTTCCTGCCCGCTT	0.498													13	319					0	0	0	0	G	62366709	C	G	62366709	3	3	443	1	0	0	0	0	1	0	0	0	3601	855	30	2	650	2	CLVS1	8	62366709	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	10045404	62366709	83997313	245	86906											
RDH10	157506	broad.mit.edu	37	chr8	74231360	74231360	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttttcttcctacgatgctGgagattaatcatggtcatat	9	16	8	8	1	3	1	2	0	1	1	4	3	4	1	1	2	2	2	1	2	3	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:74231360G>C	ENST00000240285.5	+	3	1233	c.555G>C	c.(553-555)ctG>ctC	p.L185L	RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Silent_p.L20L|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	185					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CTACGATGCTGGAGATTAATC	0.388													5	193					0	0	0	0	C	74231360	G	C	74231360	2	2	443	1	0	0	0	0	0	0	0	1	13271	1335	47	4		4	RDH10	8	74231360	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	11864651	74231360	72132662	246	86907											
ZFHX4	79776	broad.mit.edu	37	chr8	77767191	77767191	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtctcataaacggtgtccGttttgccgagccctgtttaa	8	13	9	11	3	1	0	1	0	1	0	3	1	2	0	3	1	3	2	3	1	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:77767191G>C	ENST00000521891.2	+	10	8482	c.8034G>C	c.(8032-8034)ccG>ccC	p.P2678P	ZFHX4_ENST00000518282.1_Silent_p.P2652P|ZFHX4_ENST00000455469.2_Silent_p.P2633P|ZFHX4_ENST00000050961.6_Silent_p.P2633P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2633						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGGTGTCCGTTTTGCCGAG	0.542										HNSCC(33;0.089)			7	103					0	0	0	0	C	77767191	G	C	77767191	2	2	443	1	0	0	0	0	0	0	0	1	17730	1132	40	3		3	ZFHX4	8	77767191	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3535831	77767191	68596831	247	86908											
ZFAND1	79752	broad.mit.edu	37	chr8	82615267	82615267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggcaaagtctatggcCtttccaatgctccatcggtg	9	10	11	11	2	1	0	0	0	1	0	4	1	3	0	3	3	2	2	3	3	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:82615267C>T	ENST00000220669.5	-	7	591	c.573G>A	c.(571-573)aaG>aaA	p.K191K	ZFAND1_ENST00000521287.1_Silent_p.K84K|ZFAND1_ENST00000519523.1_Silent_p.K191K|ZFAND1_ENST00000521895.1_Silent_p.K84K|ZFAND1_ENST00000523096.1_Silent_p.K184K|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000522520.1_Silent_p.K84K|ZFAND1_ENST00000517588.1_Silent_p.K84K	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	191							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCTATGGCCTTTCCAATGC	0.343													16	8					0	0	0	0	T	82615267	C	T	82615267	2	4	443	1	0	0	0	0	0	0	0	1	17721	680	24	4		4	ZFAND1	8	82615267	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4848076	82615267	63748755	248	86909											
CA2	760	broad.mit.edu	37	chr8	86392937	86392937	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaacttcaatggggagggTgaacccgaagaactgatggt	12	9	13	7	1	1	3	1	2	0	1	1	5	1	4	1	4	3	0	1	4	5	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:86392937T>C	ENST00000285379.5	+	7	932	c.702T>C	c.(700-702)ggT>ggC	p.G234G		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	234					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ATGGGGAGGGTGAACCCGAAG	0.398													48	40					0	0	0	0	C	86392937	T	C	86392937	2	2	443	1	0	0	0	0	0	0	0	1	2541	1683	59	5		5	CA2	8	86392937	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	3777670	86392937	59971085	249	86910											
RUNX1T1	862	broad.mit.edu	37	chr8	93004037	93004037	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttatttggactgtaccgcTggcctgggctaatagtgcat	7	13	12	9	2	0	0	0	0	0	0	0	1	0	1	2	3	2	5	2	3	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:93004037T>A	ENST00000523629.1	-	7	1275	c.821A>T	c.(820-822)cAg>cTg	p.Q274L	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Q285L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Q247L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Q247L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Q274L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	274					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTGTACCGCTGGCCTGGGCT	0.502													26	63					0	0	0	0	A	93004037	T	A	93004037	3	1	443	1	0	0	0	0	1	0	0	0	13832	1580	55	5	1017	5	RUNX1T1	8	93004037	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	6611100	93004037	53359985	250	86911											
GEM	2669	broad.mit.edu	37	chr8	95262646	95262646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggctttcctgggcatGctctccttccttttctggta	2	16	9	14	1	2	0	0	0	2	0	5	0	4	0	4	3	1	4	4	3	1	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:95262646G>C	ENST00000297596.2	-	5	1047	c.783C>G	c.(781-783)agC>agG	p.S261R	GEM_ENST00000396194.2_Missense_Mutation_p.S261R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	261					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTGGGCATGCTCTCCTTCC	0.552													7	72					0	0	0	0	C	95262646	G	C	95262646	3	2	443	1	0	0	0	0	1	0	0	0	6380	1310	46	4	111	4	GEM	8	95262646	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2258609	95262646	51101376	251	86912											
KIAA1429	25962	broad.mit.edu	37	chr8	95523769	95523769	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttaacatagttttaagaaGagtgagtgtgcagcgagcca	13	10	12	6	2	0	3	0	1	0	2	0	4	0	3	1	0	4	3	1	0	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:95523769G>C	ENST00000297591.5	-	13	3109	c.3034C>G	c.(3034-3036)Ctt>Gtt	p.L1012V	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L1012V|KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1012V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1012					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTTTAAGAAGAGTGAGTGTG	0.448													10	107					0	0	0	0	C	95523769	G	C	95523769	3	2	443	1	0	0	0	0	1	0	0	0	8282	942	33	2	2506	2	KIAA1429	8	95523769	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	261123	95523769	50840253	252	86913											
VPS13B	157680	broad.mit.edu	37	chr8	100654570	100654570	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctattgttcggcagcctggtCgaagaggaactggtgactta	9	11	13	8	2	0	2	0	1	0	1	2	4	0	3	1	4	2	2	1	4	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:100654570C>T	ENST00000358544.2	+	34	5938	c.5827C>T	c.(5827-5829)Cga>Tga	p.R1943*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1918*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1943					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAGCCTGGTCGAAGAGGAAC	0.468													6	204					0	0	0	0	T	100654570	C	T	100654570	4	4	443	1	0	0	0	0	0	1	0	0	17286	876	31	1	6151	1	VPS13B	8	100654570	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	5130801	100654570	45709452	253	86914											
RNF19A	25897	broad.mit.edu	37	chr8	101299997	101299997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttagaatgccgcaaaaGgcacaaagggcactctatga	14	8	10	9	1	2	2	0	1	2	1	2	2	2	2	1	2	1	3	1	2	6	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:101299997G>C	ENST00000519449.1	-	3	722	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	RNF19A_ENST00000341084.2_Missense_Mutation_p.L136V	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	136					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGCCGCAAAAGGCACAAAGGG	0.368													29	129					0	0	0	0	C	101299997	G	C	101299997	3	2	443	1	0	0	0	0	1	0	0	0	13555	1000	35	4	2146	4	RNF19A	8	101299997	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	645427	101299997	45064025	254	86915											
RSPO2	340419	broad.mit.edu	37	chr8	108913365	108913365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgggccctttctatcaGcttccttttctttttcttgt	2	21	5	13	0	4	0	1	0	3	0	6	0	6	0	3	1	1	1	3	1	1	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:108913365G>T	ENST00000276659.5	-	6	1290	c.670C>A	c.(670-672)Ctg>Atg	p.L224M	RSPO2_ENST00000517939.1_Missense_Mutation_p.L157M|RSPO2_ENST00000517781.1_Missense_Mutation_p.L160M|RSPO2_ENST00000378439.2_Missense_Mutation_p.L160M	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	224					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTTTCTATCAGcttccttttc	0.423													15	58					1.3612e-06	1.46464e-06	1	0	T	108913365	G	T	108913365	3	4	443	1	0	0	0	0	1	0	0	0	13795	962	34	4	65	4	RSPO2	8	108913365	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7613368	108913365	37450657	255	86916											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412557	110412557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatttattttagccagactgGacttccagaagataaggtag	13	13	9	6	0	0	3	0	0	0	3	1	4	1	4	2	2	1	1	2	2	6	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:110412557G>C	ENST00000378402.5	+	13	1369	c.1265G>C	c.(1264-1266)gGa>gCa	p.G422A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	422					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCCAGACTGGACTTCCAGAA	0.353										HNSCC(38;0.096)			7	143					0	0	0	0	C	110412557	G	C	110412557	3	2	443	1	0	0	0	0	1	0	0	0	12044	1174	41	2	1315	2	PKHD1L1	8	110412557	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1499192	110412557	35951465	256	86917											
KCNV1	27012	broad.mit.edu	37	chr8	110984547	110984547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcctcaacacctggaCaatgcgccccacgttctcca	10	6	8	17	2	2	0	1	0	1	0	3	2	2	1	5	1	4	2	5	1	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:110984547C>G	ENST00000524391.1	-	3	1963	c.931G>C	c.(931-933)Gtc>Ctc	p.V311L	KCNV1_ENST00000297404.1_Missense_Mutation_p.V311L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	311						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AACACCTGGACAATGCGCCCC	0.527													14	46					0	0	0	0	G	110984547	C	G	110984547	3	3	443	1	0	0	0	0	1	0	0	0	8147	478	17	4	579	4	KCNV1	8	110984547	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	571990	110984547	35379475	257	86918											
CSMD3	114788	broad.mit.edu	37	chr8	113275901	113275901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaccactccaggtacCattccctacacaggtcaaaa	13	9	4	15	0	2	0	2	0	0	0	4	0	4	0	4	2	3	1	4	2	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:113275901C>A	ENST00000297405.5	-	61	10073	c.9829G>T	c.(9829-9831)Ggt>Tgt	p.G3277C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3207C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3108C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3237C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3277	Sushi 25.					integral to membrane|plasma membrane		p.G3277S(1)|p.G3237S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCAGGTACCATTCCCTACA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	47					0.014758	0.015034	1	0	A	113275901	C	A	113275901	3	1	443	1	0	0	0	0	1	0	0	0	3978	594	21	4	1338	4	CSMD3	8	113275901	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2291354	113275901	33088121	258	86919											
CSMD3	114788	broad.mit.edu	37	chr8	113293531	113293531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaatgttgtgccatcaattCggaagactttcccattggct	11	13	8	9	1	1	1	1	0	0	1	3	2	2	2	2	2	1	2	2	2	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:113293531C>T	ENST00000297405.5	-	59	9624	c.9380G>A	c.(9379-9381)cGa>cAa	p.R3127Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3057Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2958Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3087Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3127	Sushi 23.					integral to membrane|plasma membrane		p.R3087L(1)|p.R3127L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCATCAATTCGGAAGACTTT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	38					0	0	0	0	T	113293531	C	T	113293531	3	4	443	1	0	0	0	0	1	0	0	0	3978	884	31	1	1795	1	CSMD3	8	113293531	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	17630	113293531	33070491	259	86920											
ZHX2	22882	broad.mit.edu	37	chr8	123964054	123964054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcatgtcgacatgcagcatCccaacgtgattctcaacccc	11	8	7	15	2	1	1	1	1	1	0	4	2	2	1	3	0	5	3	3	0	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:123964054C>G	ENST00000314393.4	+	3	1139	c.304C>G	c.(304-306)Ccc>Gcc	p.P102A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	102						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CATGCAGCATCCCAACGTGAT	0.498													7	105					0	0	0	0	G	123964054	C	G	123964054	3	3	443	1	0	0	0	0	1	0	0	0	17771	855	30	2	306	2	ZHX2	8	123964054	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	10670523	123964054	22399968	260	86921											
ZNF572	137209	broad.mit.edu	37	chr8	125989424	125989424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctacaaatgtcttgagtGtgaaaaaagctttggttgta	12	13	10	6	0	1	2	0	2	1	0	1	2	1	2	1	1	2	3	1	1	6	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:125989424G>C	ENST00000319286.5	+	3	1068	c.914G>C	c.(913-915)tGt>tCt	p.C305S		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGTCTTGAGTGTGAAAAAAGC	0.408										HNSCC(60;0.17)			6	100					0	0	0	0	C	125989424	G	C	125989424	3	2	443	1	0	0	0	0	1	0	0	0	18099	1377	48	4	920	4	ZNF572	8	125989424	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2025370	125989424	20374598	261	86922											
ADCY8	114	broad.mit.edu	37	chr8	131792908	131792908	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacgttttgatttttccttCctgttcactgatacccttca	6	19	5	11	1	2	2	2	2	0	0	4	2	4	2	3	0	2	3	3	0	2	9			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:131792908C>A	ENST00000286355.5	-	18	5576	c.3484G>T	c.(3484-3486)Gaa>Taa	p.E1162*	ADCY8_ENST00000377928.3_Nonsense_Mutation_p.E1031*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1162					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATTTTTCCTTCCTGTTCACTG	0.522										HNSCC(32;0.087)			8	115					0.000157383	0.000164833	1	0	A	131792908	C	A	131792908	4	1	443	1	0	0	0	0	0	1	0	0	300	864	30	2	275	2	ADCY8	8	131792908	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	5803484	131792908	14571114	262	86923											
OC90	729330	broad.mit.edu	37	chr8	133053934	133053934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcagccaggtgaagtggGggcccaggcaatctgtgggg	7	6	18	10	0	1	1	0	1	1	0	1	1	1	1	3	6	2	2	3	6	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:133053934G>A	ENST00000262283.5	-	8	869	c.770C>T	c.(769-771)cCc>cTc	p.P257L	OC90_ENST00000254627.3_Missense_Mutation_p.P61L|OC90_ENST00000443356.2_Missense_Mutation_p.P61L|OC90_ENST00000603859.1_Missense_Mutation_p.P61L			Q02509	OC90_HUMAN	otoconin 90	61					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGTGAAGTGGGGGCCCAGGCA	0.587													11	10					0	0	0	0	A	133053934	G	A	133053934	3	1	443	1	0	0	0	0	1	0	0	0	10885	1232	43	4	1291	4	OC90	8	133053934	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1261026	133053934	13310088	263	86924											
CYHR1	50626	broad.mit.edu	37	chr8	145689747	145689747	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcattgcctgaccagcCacagagcggccctcagggcc	10	4	11	16	1	1	2	1	1	0	1	1	2	1	2	5	2	5	1	5	2	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:145689747C>G	ENST00000403000.2	-	2	929	c.342G>C	c.(340-342)gtG>gtC	p.V114V	CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000438911.2_Intron|CYHR1_ENST00000424149.2_Silent_p.V114V|CYHR1_ENST00000306145.5_Silent_p.V114V	NM_032687.3	NP_116076.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	0						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|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)			CCTGACCAGCCACAGAGCGGC	0.642													115	84					0	0	0	0	G	145689747	C	G	145689747	2	3	443	1	0	0	0	0	0	0	0	1	4172	581	21	4		4	CYHR1	8	145689747	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	12635813	145689747	674275	264	86925											
RANBP6	26953	broad.mit.edu	37	chr9	6013708	6013708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttaataagaggctcgataaCcagtggaaggtactgttgaa	14	10	11	6	1	0	2	0	1	0	1	1	4	0	3	1	3	2	3	1	3	6	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:6013708C>G	ENST00000259569.5	-	1	1910	c.1900G>C	c.(1900-1902)Gtt>Ctt	p.V634L	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	634					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGCTCGATAACCAGTGGAAGG	0.408													61	104					0	0	0	0	G	6013708	C	G	6013708	3	3	443	1	0	0	0	0	1	0	0	0	13113	507	18	4	1421	4	RANBP6	9	6013708	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		6013708	135199723	265	86926											
PTPRD	5789	broad.mit.edu	37	chr9	8504347	8504347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagacggaaatagtataagCtgtttggtttcagtccttgc	10	13	10	8	1	1	1	1	0	0	1	2	2	2	2	2	2	2	4	2	2	4	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:8504347C>T	ENST00000381196.4	-	20	2279	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N	PTPRD_ENST00000355233.5_Missense_Mutation_p.S579N|PTPRD_ENST00000397611.3_Missense_Mutation_p.S576N|PTPRD_ENST00000360074.4_Missense_Mutation_p.S566N|PTPRD_ENST00000397617.3_Missense_Mutation_p.S569N|PTPRD_ENST00000358503.5_Missense_Mutation_p.S566N|PTPRD_ENST00000356435.5_Missense_Mutation_p.S579N|PTPRD_ENST00000540109.1_Missense_Mutation_p.S579N|PTPRD_ENST00000397606.3_Missense_Mutation_p.S569N|PTPRD_ENST00000486161.1_Missense_Mutation_p.S579N|PTPRD_ENST00000537002.1_Missense_Mutation_p.S576N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	579	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAGTATAAGCTGTTTGGTTT	0.463										TSP Lung(15;0.13)			17	88					0	0	0	0	T	8504347	C	T	8504347	3	4	443	1	0	0	0	0	1	0	0	0	12881	797	28	4	4166	4	PTPRD	9	8504347	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2490639	8504347	132709084	266	86927											
PTPRD	5789	broad.mit.edu	37	chr9	8528601	8528601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaccctacctgatcgtaaCtgcttaatacgaccattgtt	12	12	6	11	2	0	2	0	1	0	1	1	3	0	2	3	0	4	3	3	0	5	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:8528601C>A	ENST00000381196.4	-	12	1074	c.531G>T	c.(529-531)caG>caT	p.Q177H	PTPRD_ENST00000355233.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q177H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000463477.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q177H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	177	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGATCGTAACTGCTTAATAC	0.338										TSP Lung(15;0.13)			61	99					6.56249e-45	8.29687e-45	1	0	A	8528601	C	A	8528601	3	1	443	1	0	0	0	0	1	0	0	0	12881	564	20	4	5403	4	PTPRD	9	8528601	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	24254	8528601	132684830	267	86928											
NFIB	4781	broad.mit.edu	37	chr9	14120551	14120551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgagaaaagtagctcgatGgggctggaggaaggatagct	13	7	17	4	1	0	1	0	1	0	1	1	7	0	4	0	5	2	4	0	5	5	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:14120551G>C	ENST00000380959.3	-	8	1606	c.1133C>G	c.(1132-1134)cCa>cGa	p.P378R	NFIB_ENST00000380924.1_Missense_Mutation_p.P126R|NFIB_ENST00000380953.1_Missense_Mutation_p.P378R|NFIB_ENST00000397579.2_Missense_Mutation_p.P378R|NFIB_ENST00000397581.2_Missense_Mutation_p.P378R|NFIB_ENST00000380934.4_Missense_Mutation_p.P404R|NFIB_ENST00000543693.1_Missense_Mutation_p.P126R|NFIB_ENST00000397575.3_Missense_Mutation_p.P378R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	378					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTAGCTCGATGGGGCTGGAGG	0.468			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								7	51					0	0	0	0	C	14120551	G	C	14120551	3	2	443	1	0	0	0	0	1	0	0	0	10441	1348	47	4	137	4	NFIB	9	14120551	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5591950	14120551	127092880	268	86929											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777032	18777032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcggctatctcaagatccaCcgcctcaagccctcggatgc	8	9	8	16	3	2	1	2	0	1	1	6	2	3	2	4	2	2	1	4	2	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:18777032C>G	ENST00000380548.4	+	19	3144	c.2805C>G	c.(2803-2805)caC>caG	p.H935Q		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	935	Ig-like C2-type 1.					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)		TCAAGATCCACCGCCTCAAGC	0.647													17	74					0	0	0	0	G	18777032	C	G	18777032	3	3	443	1	0	0	0	0	1	0	0	0	274	506	18	4	2883	4	ADAMTSL1	9	18777032	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4656481	18777032	122436399	269	86930											
ALDH1A1	216	broad.mit.edu	37	chr9	75520940	75520940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcacttaccacgccatagCaattcaccctgaaggaaaag	14	6	9	12	1	1	1	1	1	0	0	1	2	1	2	3	2	2	2	3	2	6	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:75520940C>G	ENST00000297785.3	-	12	1421	c.1367G>C	c.(1366-1368)tGc>tCc	p.C456S		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	456					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CACGCCATAGCAATTCACCCT	0.358													3	35					0	0	0	0	G	75520940	C	G	75520940	3	3	443	1	0	0	0	0	1	0	0	0	490	710	25	4	146	4	ALDH1A1	9	75520940	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	56743908	75520940	65692491	270	86931											
TLE1	7088	broad.mit.edu	37	chr9	84231042	84231042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggcttgctcgcggagaaGaagggtcctcaacaagcata	12	6	13	10	2	1	2	1	0	0	2	3	3	2	2	1	3	3	3	1	3	5	2	rs151221865	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:84231042G>A	ENST00000376499.3	-	11	1837	c.773C>T	c.(772-774)tCt>tTt	p.S258F	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	258	CCN domain.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TCGCGGAGAAGAAGGGTCCTC	0.478													51	86					0	0	0	0	A	84231042	G	A	84231042	3	1	443	1	0	0	0	0	1	0	0	0	16032	942	33	2	1579	2	TLE1	9	84231042	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8710102	84231042	56982389	271	86932											
SEMA4D	10507	broad.mit.edu	37	chr9	91993742	91993742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtggggactttgctggtGatggtgtcttgctcggtctc	2	15	15	9	2	2	1	0	1	2	0	5	2	3	2	1	5	2	2	1	5	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:91993742G>C	ENST00000450295.1	-	16	3242	c.2466C>G	c.(2464-2466)atC>atG	p.I822M	SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.I822M			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	822					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.I822I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTGCTGGTGATGGTGTCTT	0.577													9	55					0	0	0	0	C	91993742	G	C	91993742	3	2	443	1	0	0	0	0	1	0	0	0	14121	1280	45	2	696	2	SEMA4D	9	91993742	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7762700	91993742	49219689	272	86933											
OMD	4958	broad.mit.edu	37	chr9	95179154	95179154	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtgaagaaggcaaaccAggaggcattgattctaatct	16	9	10	6	0	2	3	0	2	2	1	2	4	2	4	1	3	1	2	1	3	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:95179154A>G	ENST00000375550.4	-	2	962	c.687T>C	c.(685-687)ccT>ccC	p.P229P	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	229					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						AAGGCAAACCAGGAGGCATTG	0.333			T	USP6	aneurysmal bone cysts								52	70					0	0	0	0	G	95179154	A	G	95179154	2	3	443	1	0	0	0	0	0	0	0	1	10936	175	7	5		5	OMD	9	95179154	Silent	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	3185412	95179154	46034277	273	86934											
KIAA0368	23392	broad.mit.edu	37	chr9	114131328	114131328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttacgttgggtctccgcGtttcgcggccaggctttgcc	2	13	13	13	5	1	0	0	0	1	0	3	0	1	0	3	3	3	4	3	3	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:114131328G>C	ENST00000259335.4	-	47	5633	c.5634C>G	c.(5632-5634)aaC>aaG	p.N1878K	KIAA0368_ENST00000338205.5_Missense_Mutation_p.N1700K|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000374378.3_Intron	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGGTCTCCGCGTTTCGCGGCC	0.453													6	68					0	0	0	0	C	114131328	G	C	114131328	3	2	443	1	0	0	0	0	1	0	0	0	8222	1136	40	3	439	3	KIAA0368	9	114131328	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	18952174	114131328	27082103	274	86935											
FKBP15	23307	broad.mit.edu	37	chr9	115932873	115932873	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcaaactctctccGtaaggactggaacacctggt	10	9	8	14	1	2	0	1	0	1	0	5	2	4	2	3	3	3	2	3	3	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:115932873G>T	ENST00000238256.3	-	25	2812	c.2695C>A	c.(2695-2697)Cgg>Agg	p.R899R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	899					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AACTCTCTCCGTAAGGACTGG	0.433													49	61					2.0833e-19	2.51274e-19	1	0	T	115932873	G	T	115932873	2	4	443	1	0	0	0	0	0	0	0	1	5950	1144	40	3		3	FKBP15	9	115932873	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1801545	115932873	25280558	275	86936											
AKNA	80709	broad.mit.edu	37	chr9	117139491	117139491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccactgctccaggacCttgccgggctgagttcaacg	6	9	11	15	2	1	1	1	1	0	0	3	2	3	2	4	2	3	3	4	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:117139491C>G	ENST00000307564.4	-	3	757	c.596G>C	c.(595-597)aGg>aCg	p.R199T	AKNA_ENST00000374088.3_Missense_Mutation_p.R199T|AKNA_ENST00000374075.5_Missense_Mutation_p.R118T|AKNA_ENST00000312033.3_Missense_Mutation_p.R199T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTCCAGGACCTTGCCGGGCT	0.612													13	82					0	0	0	0	G	117139491	C	G	117139491	3	3	443	1	0	0	0	0	1	0	0	0	463	681	24	4	3803	4	AKNA	9	117139491	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1206618	117139491	24073940	276	86937											
TNC	3371	broad.mit.edu	37	chr9	117826258	117826258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgaatgaaaaagtactCataggccccttctggagcag	13	8	9	11	0	2	2	1	2	1	0	2	3	2	3	3	2	2	2	3	2	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:117826258C>G	ENST00000350763.4	-	12	3988	c.3577G>C	c.(3577-3579)Gag>Cag	p.E1193Q	TNC_ENST00000341037.4_Missense_Mutation_p.E1193Q|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.E1193Q|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1193	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAAAAGTACTCATAGGCCCCT	0.582													19	141					0	0	0	0	G	117826258	C	G	117826258	3	3	443	1	0	0	0	0	1	0	0	0	16364	835	29	2	3096	2	TNC	9	117826258	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	686767	117826258	23387173	277	86938											
ASTN2	23245	broad.mit.edu	37	chr9	119626005	119626005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtatgtggacagcatcgCttcttcccttggagagaaag	12	10	11	8	1	1	1	0	0	1	1	3	4	2	3	1	2	1	3	1	2	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:119626005C>T	ENST00000313400.4	-	11	1997	c.1897G>A	c.(1897-1899)Gcg>Acg	p.A633T	ASTN2_ENST00000373996.3_Missense_Mutation_p.A629T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.A582T			O75129	ASTN2_HUMAN	astrotactin 2	633						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GACAGCATCGCTTCTTCCCTT	0.433													9	39					0	0	0	0	T	119626005	C	T	119626005	3	4	443	1	0	0	0	0	1	0	0	0	1069	797	28	4	2406	4	ASTN2	9	119626005	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1799747	119626005	21587426	278	86939											
MORN5	254956	broad.mit.edu	37	chr9	124931984	124931984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaactggcattactgcgacGgctatgatcggaggttttac	11	11	11	8	3	0	1	0	1	0	0	1	3	0	2	0	4	4	3	0	4	5	4	rs113084619	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:124931984G>T	ENST00000536616.1	+	3	294	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	MORN5_ENST00000373764.3_Missense_Mutation_p.G86C|MORN5_ENST00000486801.1_Intron			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	86										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTACTGCGACGGCTATGATCG	0.507													37	75					3.21399e-22	3.94369e-22	1	0	T	124931984	G	T	124931984	3	4	443	1	0	0	0	0	1	0	0	0	9781	1116	39	3	266	3	MORN5	9	124931984	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5305979	124931984	16281447	279	86940											
OR1L8	138881	broad.mit.edu	37	chr9	125330655	125330655	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttatggtgaccaggtacacGatgaggaagagaacaaagag	16	6	14	5	1	0	4	0	2	0	2	0	7	0	5	1	3	2	2	1	3	5	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125330655G>C	ENST00000304865.2	-	1	183	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGTACACGATGAGGAAGA	0.498													34	39					0	0	0	0	C	125330655	G	C	125330655	3	2	443	1	0	0	0	0	1	0	0	0	11038	1048	37	3	831	3	OR1L8	9	125330655	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	398671	125330655	15882776	280	86941											
OR1L3	26735	broad.mit.edu	37	chr9	125438164	125438164	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggtgattctgttttaTgggagtattagctatgtcta	8	18	11	4	0	2	1	0	1	2	0	2	2	2	2	0	2	1	3	0	2	5	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125438164T>A	ENST00000304820.2	+	1	850	c.756T>A	c.(754-756)taT>taA	p.Y252*		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TTCTGTTTTATGGGAGTATTA	0.443													14	23					0	0	0	0	A	125438164	T	A	125438164	4	1	443	1	0	0	0	0	0	1	0	0	11035	1471	51	5	758	5	OR1L3	9	125438164	Nonsense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	107509	125438164	15775267	281	86942											
RC3H2	54542	broad.mit.edu	37	chr9	125622334	125622334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaggcacagaattcagctCtgttccaacattagagggcc	11	10	10	10	0	2	3	1	1	1	2	3	3	3	3	2	2	2	3	2	2	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125622334C>G	ENST00000373670.1	-	10	2311	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q	RC3H2_ENST00000423239.2_Missense_Mutation_p.E571Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.E571Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	571						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAATTCAGCTCTGTTCCAACA	0.423													14	271					0	0	0	0	G	125622334	C	G	125622334	3	3	443	1	0	0	0	0	1	0	0	0	13249	922	32	2	1986	2	RC3H2	9	125622334	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	184170	125622334	15591097	282	86943											
TTC16	158248	broad.mit.edu	37	chr9	130493269	130493269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagagctccagcaagaCtgaggccactcagggccaga	11	3	15	12	0	1	4	1	1	0	3	2	4	2	4	3	4	2	3	3	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:130493269C>G	ENST00000373289.3	+	14	2287	c.2207C>G	c.(2206-2208)aCt>aGt	p.T736S	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	736							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCCAGCAAGACTGAGGCCACT	0.652													8	43					0	0	0	0	G	130493269	C	G	130493269	3	3	443	1	0	0	0	0	1	0	0	0	16779	565	20	4	2261	4	TTC16	9	130493269	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4870935	130493269	10720162	283	86944											
TBC1D13	54662	broad.mit.edu	37	chr9	131565604	131565604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaatggctgtgaggccCactgggaggtggtggagcgg	6	7	19	9	1	0	1	0	1	0	0	0	3	0	3	2	7	2	1	2	7	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:131565604C>G	ENST00000372648.5	+	8	769	c.619C>G	c.(619-621)Cac>Gac	p.H207D	TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Missense_Mutation_p.H26D	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	207	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTGTGAGGCCCACTGGGAGGT	0.552													11	54					0	0	0	0	G	131565604	C	G	131565604	3	3	443	1	0	0	0	0	1	0	0	0	15693	594	21	4	649	4	TBC1D13	9	131565604	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1072335	131565604	9647827	284	86945											
CRAT	1384	broad.mit.edu	37	chr9	131858334	131858334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaggtgtccatgaagatGtcgggcatgctcaccaggtc	9	9	14	9	1	1	2	1	1	0	1	4	3	2	3	2	4	1	2	2	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:131858334G>C	ENST00000318080.2	-	13	1902	c.1608C>G	c.(1606-1608)gaC>gaG	p.D536E		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	536					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCATGAAGATGTCGGGCATGC	0.657													14	162					0	0	0	0	C	131858334	G	C	131858334	3	2	443	1	0	0	0	0	1	0	0	0	3877	1368	48	4	280	4	CRAT	9	131858334	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	292730	131858334	9355097	285	86946											
POMT1	10585	broad.mit.edu	37	chr9	134385675	134385675	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttctgtcacttgctcgcccGagcagtggctttgctggtca	4	13	12	12	2	3	0	2	0	1	0	4	1	3	0	1	2	3	5	1	2	0	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:134385675G>C	ENST00000423007.1	+	9	1170	c.728G>C	c.(727-729)cGa>cCa	p.R243P	POMT1_ENST00000402686.3_Missense_Mutation_p.R243P|POMT1_ENST00000372228.3_Missense_Mutation_p.R265P|POMT1_ENST00000419118.2_Missense_Mutation_p.R91P|POMT1_ENST00000541219.1_Missense_Mutation_p.R21P|POMT1_ENST00000404875.2_Missense_Mutation_p.R126P|POMT1_ENST00000341012.7_Missense_Mutation_p.R189P|POMT1_ENST00000354713.4_Missense_Mutation_p.R213P	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	265					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCTCGCCCGAGCAGTGGCT	0.517													7	41					0	0	0	0	C	134385675	G	C	134385675	3	2	443	1	0	0	0	0	1	0	0	0	12317	1058	37	3	824	3	POMT1	9	134385675	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2527341	134385675	6827756	286	86947											
GTF3C5	9328	broad.mit.edu	37	chr9	135919236	135919236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttccaccaggagctgccGctctacatccccccacccat	7	10	5	19	1	1	0	0	0	1	0	3	1	3	1	7	1	3	2	7	1	1	3	rs138342612	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:135919236G>A	ENST00000372097.5	+	3	818	c.495G>A	c.(493-495)ccG>ccA	p.P165P	GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372095.5_Silent_p.P40P|GTF3C5_ENST00000372099.6_Silent_p.P156P|GTF3C5_ENST00000372108.5_Silent_p.P165P|GTF3C5_ENST00000342018.8_Silent_p.P165P	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	165						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGAGCTGCCGCTCTACATCC	0.622													38	64					0	0	0	0	A	135919236	G	A	135919236	2	1	443	1	0	0	0	0	0	0	0	1	6926	1074	38	1		1	GTF3C5	9	135919236	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1533561	135919236	5294195	287	86948											
LCN10	414332	broad.mit.edu	37	chr9	139634424	139634424	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcgggaggatgacggcGgccttggagagccccagaat	8	8	15	10	3	1	3	0	1	1	2	2	6	1	5	3	5	1	0	3	5	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:139634424G>T	ENST00000497771.1	-	5	607	c.552C>A	c.(550-552)gcC>gcA	p.A184A	LCN10_ENST00000474369.1_Silent_p.A171A|LCN6_ENST00000435202.1_3'UTR|LCN10_ENST00000527229.1_Silent_p.A148A	NM_001001712.2	NP_001001712.2	Q6JVE6	LCN10_HUMAN	lipocalin 10	171					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGATGACGGCGGCCTTGGAGA	0.562													3	4					6.4e-05	6.72285e-05	1	0	T	139634424	G	T	139634424	2	4	443	1	0	0	0	0	0	0	0	1	8734	1103	39	3		3	LCN10	9	139634424	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3715188	139634424	1579007	288	86949											
PLXDC2	84898	broad.mit.edu	37	chr10	20290916	20290916	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaataacactcagatcgagGtagataaatagtctgggtaa	17	9	9	6	1	2	2	1	0	1	2	3	3	2	2	0	2	1	2	0	2	7	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:20290916G>T	ENST00000377252.3	+	2	1165		c.e2+1		PLXDC2_ENST00000377242.3_Splice_Site	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCAGATCGAGGTAGATAAATA	0.433													3	11					0.115264	0.116084	1	0	T	20290916	G	T	20290916	5	4	443	1	0	0	0	0	0	0	1	0	12190	1275	44	4	331	4	PLXDC2	10	20290916	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		20290916	115243831	289	86950											
YME1L1	10730	broad.mit.edu	37	chr10	27406523	27406523	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgtccaagtgttggcccCcgtggcatgattgtagcttt	7	13	11	10	1	0	1	0	1	0	0	1	1	1	1	3	2	1	4	3	2	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:27406523C>A	ENST00000326799.3	-	16	2020	c.1872G>T	c.(1870-1872)cgG>cgT	p.R624R	YME1L1_ENST00000375972.3_Silent_p.R534R|YME1L1_ENST00000376016.3_Silent_p.R567R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	624					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTGTTGGCCCCCGTGGCATGA	0.463													22	41					6.21321e-17	7.38079e-17	1	0	A	27406523	C	A	27406523	2	1	443	1	0	0	0	0	0	0	0	1	17583	610	22	4		4	YME1L1	10	27406523	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	7115607	27406523	108128224	290	86951											
ARHGAP12	94134	broad.mit.edu	37	chr10	32197118	32197118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccttatctgttcagtggaGctgctgctaagttcatcacc	8	13	8	12	0	4	0	3	0	1	0	4	1	4	1	2	1	3	5	2	1	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:32197118G>C	ENST00000375250.5	-	3	907	c.666C>G	c.(664-666)agC>agG	p.S222R	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.S222R|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S222R	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	222					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTTCAGTGGAGCTGCTGCTAA	0.363													10	37					0	0	0	0	C	32197118	G	C	32197118	3	2	443	1	0	0	0	0	1	0	0	0	867	962	34	4	1946	4	ARHGAP12	10	32197118	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4790595	32197118	103337629	291	86952											
CCNY	219771	broad.mit.edu	37	chr10	35855003	35855003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcagttcaacatcaatgttCcttccagtgtctatgccaag	10	13	7	11	0	3	0	2	0	1	0	5	0	5	0	3	0	3	3	3	0	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:35855003C>G	ENST00000374704.4	+	9	979	c.799C>G	c.(799-801)Cct>Gct	p.P267A	CCNY_ENST00000265375.9_Missense_Mutation_p.P213A|CCNY_ENST00000374706.1_Missense_Mutation_p.P213A|CCNY_ENST00000339497.5_Missense_Mutation_p.P242A	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	267					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CATCAATGTTCCTTCCAGTGT	0.483													4	137					0	0	0	0	G	35855003	C	G	35855003	3	3	443	1	0	0	0	0	1	0	0	0	2965	855	30	2	833	2	CCNY	10	35855003	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3657885	35855003	99679744	292	86953											
ZNF239	8187	broad.mit.edu	37	chr10	44052660	44052661	+	Frame_Shift_Ins	INS	-	-	T																															cacttgtcacatttataaggINStttttcgcctgtatggacgg																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:44052660_44052661insT	ENST00000306006.6	-	2	1519_1520	c.867_868insA	c.(865-870)aacttafs	p.N289fs	ZNF239_ENST00000535642.1_Frame_Shift_Ins_p.N289fs|ZNF239_ENST00000426961.1_Frame_Shift_Ins_p.N289fs|ZNF239_ENST00000374446.2_Frame_Shift_Ins_p.N289fs	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATTTATAAGGTTTTTCGCCTG	0.5													49	121	---	---	---	---					T	44052661	-	T	44052660	7	5	443	1	0	1	1	0	0	0	0	0	17886	1261	44	0	512	0	ZNF239	10	44052660	Frame_Shift_Ins	INS	-	TCGA-KU-A66S-01A-21D-A30E-08	8197657	44052660	91482087	293	86954											
A1CF	29974	broad.mit.edu	37	chr10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagcagtttcctcctcGccatggcagctgctcgatga	6	11	11	13	2	0	1	0	1	0	0	4	2	2	1	3	2	3	6	3	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:52595854G>A	ENST00000395489.2	-	8	959	c.563C>T	c.(562-564)gCg>gTg	p.A188V	A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488													35	54					0	0	0	0	A	52595854	G	A	52595854	3	1	443	1	0	0	0	0	1	0	0	0	2	1087	38	1	1232	1	A1CF	10	52595854	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8543194	52595854	82938893	294	86955											
LRRTM3	347731	broad.mit.edu	37	chr10	68687741	68687741	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtgatcgatgcagtgaAgaactacagcatctgtggca	14	9	11	7	1	1	3	0	2	1	1	2	4	1	3	0	1	4	3	0	1	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:68687741A>T	ENST00000361320.4	+	2	1645	c.1067A>T	c.(1066-1068)aAg>aTg	p.K356M	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	356	LRRCT.					integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GATGCAGTGAAGAACTACAGC	0.473													29	38					0	0	0	0	T	68687741	A	T	68687741	3	4	443	1	0	0	0	0	1	0	0	0	9105	72	3	5	1073	5	LRRTM3	10	68687741	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	16091887	68687741	66847006	295	86956											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511362	72511362	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggacacctatgagtgggcGctcaagagctgggccccctg	8	7	14	12	1	1	2	1	1	0	1	1	3	1	3	3	3	1	2	3	3	2	1	rs115166776	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:72511362G>C	ENST00000373208.1	+	17	2565	c.2565G>C	c.(2563-2565)gcG>gcC	p.A855A	ADAMTS14_ENST00000373207.1_Silent_p.A852A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	852	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGAGTGGGCGCTCAAGAGCT	0.617													12	56					0	0	0	0	C	72511362	G	C	72511362	2	2	443	1	0	0	0	0	0	0	0	1	259	1074	38	3		3	ADAMTS14	10	72511362	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3823621	72511362	63023385	296	86957											
USP54	159195	broad.mit.edu	37	chr10	75289361	75289361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctccacttgtctcaGccatgcctgaaagccccaag	9	8	6	18	0	1	1	1	1	1	0	4	1	3	1	7	0	3	0	7	0	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:75289361G>C	ENST00000319786.7	-	15	2980	c.2137C>G	c.(2137-2139)Ctg>Gtg	p.L713V	USP54_ENST00000497106.1_Intron|USP54_ENST00000339859.4_Intron|USP54_ENST00000408019.1_Intron|USP54_ENST00000428547.1_Intron|USP54_ENST00000394811.2_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	0					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTTGTCTCAGCCATGCCTGA	0.478											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	36					0	0	0	0	C	75289361	G	C	75289361	3	2	443	1	0	0	0	0	1	0	0	0	17181	986	34	4		4	USP54	10	75289361	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2777999	75289361	60245386	297	86958											
BLNK	29760	broad.mit.edu	37	chr10	97975101	97975101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgttcctggaggagaggCgggcgttgaggaatttggct	7	10	18	6	2	0	2	0	1	0	1	1	5	1	4	1	6	1	4	1	6	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:97975101C>T	ENST00000224337.5	-	8	793	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	BLNK_ENST00000371176.2_Intron|BLNK_ENST00000413476.2_Missense_Mutation_p.A218T|BLNK_ENST00000427367.2_Missense_Mutation_p.A218T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	218	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGAGGAGAGGCGGGCGTTGAG	0.353													30	34					0	0	0	0	T	97975101	C	T	97975101	3	4	443	1	0	0	0	0	1	0	0	0	1452	768	27	1	758	1	BLNK	10	97975101	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	22685740	97975101	37559646	298	86959											
CRTAC1	55118	broad.mit.edu	37	chr10	99661260	99661260	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggatggagcatctacCggaagaggcggttggctgag	10	6	17	8	2	1	2	0	1	1	1	1	5	1	5	2	6	3	3	2	6	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:99661260C>T	ENST00000370597.3	-	8	1488	c.1133_splice	c.e8+1	p.R378_splice	CRTAC1_ENST00000298819.4_Splice_Site_p.R378_splice|CRTAC1_ENST00000370591.2_Splice_Site_p.R378_splice	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	378						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GAGCATCTACCGGAAGAGGCG	0.567													7	26					0	0	0	0	T	99661260	C	T	99661260	5	4	443	1	0	0	0	0	0	0	1	0	3926	666	23	1	884	1	CRTAC1	10	99661260	Splice_Site	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1686159	99661260	35873487	299	86960											
ZDHHC6	64429	broad.mit.edu	37	chr10	114200423	114200423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctccgggctgcactcatgtCgatcttcactgtgttccacc	5	13	8	15	2	4	0	2	0	2	0	7	1	5	0	3	1	1	3	3	1	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:114200423C>G	ENST00000369405.3	-	5	973	c.550G>C	c.(550-552)Gac>Cac	p.D184H	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.D180H	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	184						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GCACTCATGTCGATCTTCACT	0.463													19	81					0	0	0	0	G	114200423	C	G	114200423	3	3	443	1	0	0	0	0	1	0	0	0	17714	884	31	3	719	3	ZDHHC6	10	114200423	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	14539163	114200423	21334324	300	86961											
SEC23IP	11196	broad.mit.edu	37	chr10	121662422	121662422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaccaatatgagcctgttCagccccactggttttactgc	11	11	7	12	0	1	1	1	1	0	0	1	1	1	1	4	1	5	2	4	1	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:121662422C>G	ENST00000369075.3	+	3	880	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Q59E	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	270	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGAGCCTGTTCAGCCCCACTG	0.468													4	70					0	0	0	0	G	121662422	C	G	121662422	3	3	443	1	0	0	0	0	1	0	0	0	14080	827	29	2	818	2	SEC23IP	10	121662422	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	7461999	121662422	13872325	301	86962											
KNDC1	85442	broad.mit.edu	37	chr10	135009308	135009308	+	Frame_Shift_Del	DEL	G	G	-																															gtgccccggagcggccgtccGcggctgaggccatcaaggta																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:135009308delG	ENST00000304613.3	+	10	1738	c.1717delG	c.(1717-1719)cgfs	p.A574fs	KNDC1_ENST00000368571.2_Frame_Shift_Del_p.A509fs|KNDC1_ENST00000368572.2_Frame_Shift_Del_p.A574fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	574	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCGGCCGTCCGCGGCTGAGGC	0.687													2	4	---	---	---	---					-	135009308	G	-	135009308	7	5	443	1	0	1	0	1	0	0	0	0	8478	1087	38	0	1755	0	KNDC1	10	135009308	Frame_Shift_Del	DEL	G	TCGA-KU-A66S-01A-21D-A30E-08	13346886	135009308	525439	302	86963											
CDHR5	53841	broad.mit.edu	37	chr11	618910	618910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacaccggggggcatcGgctgagaggttcctggcttt	5	10	14	12	2	0	1	0	1	0	1	3	2	2	1	3	6	0	4	3	6	0	3	rs148641095		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:618910G>C	ENST00000358353.3	-	14	1971	c.1649C>G	c.(1648-1650)cCg>cGg	p.P550R	CDHR5_ENST00000397542.2_Missense_Mutation_p.P550R|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	550	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGGGGGCATCGGCTGAGAGGT	0.677													19	174					0	0	0	0	C	618910	G	C	618910	3	2	443	1	0	0	0	0	1	0	0	0	3151	1116	39	3	900	3	CDHR5	11	618910	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		618910	134387606	303	86964											
CDHR5	53841	broad.mit.edu	37	chr11	621613	621613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgtccttgtcgcggtcCtcagcctgcagttgcgtctc	3	13	11	14	4	2	0	1	0	1	0	7	0	4	0	3	1	3	2	3	1	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:621613C>G	ENST00000358353.3	-	6	778	c.456G>C	c.(454-456)gaG>gaC	p.E152D	CDHR5_ENST00000397542.2_Missense_Mutation_p.E152D|CDHR5_ENST00000349570.7_Missense_Mutation_p.E152D			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	152	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TGTCGCGGTCCTCAGCCTGCA	0.637													4	99					0	0	0	0	G	621613	C	G	621613	3	3	443	1	0	0	0	0	1	0	0	0	3151	680	24	4	2125	4	CDHR5	11	621613	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2703	621613	134384903	304	86965											
MUC5B	727897	broad.mit.edu	37	chr11	1272374	1272374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagctttacacccatcccctCctccaccctgtggaccacgt	7	9	5	20	1	0	0	0	0	0	0	3	1	3	1	7	1	2	1	7	1	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:1272374C>G	ENST00000447027.1	+	31	14331	c.14273C>G	c.(14272-14274)tCc>tGc	p.S4758C	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4755C			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4755	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCATCCCCTCCTCCACCCTG	0.577													28	92					0	0	0	0	G	1272374	C	G	1272374	3	3	443	1	0	0	0	0	1	0	0	0	10049	855	30	2	14395	2	MUC5B	11	1272374	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	650761	1272374	133734142	305	86966											
CARS	833	broad.mit.edu	37	chr11	3023793	3023793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgttcctgtttcctccggGccgcctcctctttcttcttc	0	18	6	17	2	3	0	0	0	3	0	8	0	7	0	6	1	0	2	6	1	0	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:3023793G>C	ENST00000397114.3	-	21	2352	c.1976C>G	c.(1975-1977)gCc>gGc	p.A659G	CARS_ENST00000278224.9_Missense_Mutation_p.A669G|CARS_ENST00000397111.5_Missense_Mutation_p.A669G|CARS_ENST00000470221.2_Intron|CARS_ENST00000380525.4_Missense_Mutation_p.A752G|CARS_ENST00000401769.3_Missense_Mutation_p.A682G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	669					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TTTCCTCCGGGCCGCCTCCTC	0.572			T	ALK	ALCL								15	250					0	0	0	0	C	3023793	G	C	3023793	3	2	443	1	0	0	0	0	1	0	0	0	2682	1203	42	4	260	4	CARS	11	3023793	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1751419	3023793	131982723	306	86967											
OR52I2	143502	broad.mit.edu	37	chr11	4608714	4608714	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtgctgaccccgtgccCagcagtctctacagtctgat	7	10	10	14	1	2	2	0	2	2	0	3	2	2	2	3	0	4	3	3	0	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:4608714C>G	ENST00000312614.4	+	1	694	c.672C>G	c.(670-672)ccC>ccG	p.P224P		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCCGTGCCCAGCAGTCTCT	0.502													44	132					0	0	0	0	G	4608714	C	G	4608714	2	3	443	1	0	0	0	0	0	0	0	1	11192	581	21	4		4	OR52I2	11	4608714	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1584921	4608714	130397802	307	86968											
OR51T1	401665	broad.mit.edu	37	chr11	4903237	4903237	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccattccagtctgctgtctCtacaccattgccctcttggg	5	14	7	15	0	3	0	0	0	3	0	6	0	5	0	4	1	3	1	4	1	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:4903237C>G	ENST00000380378.1	+	1	189	c.189C>G	c.(187-189)ctC>ctG	p.L63L	OR51T1_ENST00000322049.1_Silent_p.L36L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGCTGTCTCTACACCATTG	0.463													8	90					0	0	0	0	G	4903237	C	G	4903237	2	3	443	1	0	0	0	0	0	0	0	1	11177	900	32	2		2	OR51T1	11	4903237	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	294523	4903237	130103279	308	86969											
OR56B4	196335	broad.mit.edu	37	chr11	6129689	6129689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttcttcctatgctgtaatCcttcactctgtgctgaggct	5	18	7	11	0	3	1	1	1	2	0	5	1	5	1	2	1	2	4	2	1	2	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6129689C>G	ENST00000316529.3	+	1	776	c.681C>G	c.(679-681)atC>atG	p.I227M	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGTAATCCTTCACTCTG	0.468													15	83					0	0	0	0	G	6129689	C	G	6129689	3	3	443	1	0	0	0	0	1	0	0	0	11209	845	30	2	683	2	OR56B4	11	6129689	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1226452	6129689	128876827	309	86970											
DNHD1	144132	broad.mit.edu	37	chr11	6588637	6588637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggactagcagcctctcccagCacagtccacagcaagccagt	11	5	9	16	0	1	0	0	0	1	0	3	1	2	1	4	1	5	3	4	1	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6588637C>G	ENST00000254579.6	+	36	12462	c.11898C>G	c.(11896-11898)agC>agG	p.S3966R	DNHD1_ENST00000527990.2_Missense_Mutation_p.S3966R	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3966					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCTCCCAGCACAGTCCACA	0.582													6	16					0	0	0	0	G	6588637	C	G	6588637	3	3	443	1	0	0	0	0	1	0	0	0	4704	709	25	4	12041	4	DNHD1	11	6588637	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	458948	6588637	128417879	310	86971											
DNHD1	144132	broad.mit.edu	37	chr11	6592025	6592025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccgtgtgggttcctgagtCtcgaagaggcgcccagcttg	6	9	14	12	3	1	2	0	1	1	1	3	3	2	2	3	2	1	2	3	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6592025C>G	ENST00000254579.6	+	42	13847	c.13283C>G	c.(13282-13284)tCt>tGt	p.S4428C	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTCCTGAGTCTCGAAGAGGC	0.632													4	16					0	0	0	0	G	6592025	C	G	6592025	3	3	443	1	0	0	0	0	1	0	0	0	4704	913	32	2	13450	2	DNHD1	11	6592025	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3388	6592025	128414491	311	86972											
DCHS1	8642	broad.mit.edu	37	chr11	6653622	6653622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggccaaaggggctacttgCtccctctgctgcaaggtgat	8	9	12	12	0	1	1	0	1	1	0	2	1	2	1	2	4	4	4	2	4	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6653622C>G	ENST00000299441.3	-	6	3532	c.3121G>C	c.(3121-3123)Gca>Cca	p.A1041P	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1041	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTACTTGCTCCCTCTGCT	0.602													3	43					0	0	0	0	G	6653622	C	G	6653622	3	3	443	1	0	0	0	0	1	0	0	0	4319	797	28	4	6839	4	DCHS1	11	6653622	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	61597	6653622	128352894	312	86973											
RBMXL2	27288	broad.mit.edu	37	chr11	7111017	7111017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccagagacggctactcgagCcgagactaccgcgaaccccg	10	4	11	16	6	0	2	0	0	0	2	2	6	1	2	5	1	4	1	5	1	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:7111017C>A	ENST00000306904.5	+	1	853	c.666C>A	c.(664-666)agC>agA	p.S222R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	222	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTACTCGAGCCGAGACTACC	0.706													4	11					0.00024832	0.000258926	1	0	A	7111017	C	A	7111017	3	1	443	1	0	0	0	0	1	0	0	0	13236	738	26	4	668	4	RBMXL2	11	7111017	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	457395	7111017	127895499	313	86974											
PPFIBP2	8495	broad.mit.edu	37	chr11	7663650	7663650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagggactccaagggaCagaaaaggtaaggcttgacc	14	4	14	9	0	0	2	0	1	0	1	1	5	1	5	3	5	0	2	3	5	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:7663650C>G	ENST00000299492.4	+	17	2027	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q435E|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q404E|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q389E|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	547					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTCCAAGGGACAGAAAAGGTA	0.512													6	28					0	0	0	0	G	7663650	C	G	7663650	3	3	443	1	0	0	0	0	1	0	0	0	12385	479	17	4	1701	4	PPFIBP2	11	7663650	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	552633	7663650	127342866	314	86975											
CYP2R1	120227	broad.mit.edu	37	chr11	14902204	14902204	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgaaaaatttggtttcttCcaagattttagattcaaaag	15	16	6	4	0	2	3	1	1	1	2	3	3	3	3	1	1	0	1	1	1	6	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:14902204C>G	ENST00000334636.5	-	3	524	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	160					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TTGGTTTCTTCCAAGATTTTA	0.338													5	28					0	0	0	0	G	14902204	C	G	14902204	3	3	443	1	0	0	0	0	1	0	0	0	4205	864	30	2	1039	2	CYP2R1	11	14902204	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	7238554	14902204	120104312	315	86976											
ABCC8	6833	broad.mit.edu	37	chr11	17415891	17415891	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaaggcccgggccaggcaGaacagctgcctctgtccctg	8	5	13	15	2	1	1	0	0	1	1	2	2	2	1	4	3	3	2	4	3	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:17415891G>C	ENST00000302539.4	-	37	4595	c.4470C>G	c.(4468-4470)ttC>ttG	p.F1490L	ABCC8_ENST00000389817.3_Missense_Mutation_p.F1489L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1489	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGCCAGGCAGAACAGCTGCC	0.572													24	51					0	0	0	0	C	17415891	G	C	17415891	3	2	443	1	0	0	0	0	1	0	0	0	58	933	33	2	290	2	ABCC8	11	17415891	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2513687	17415891	117590625	316	86977											
NELL1	4745	broad.mit.edu	37	chr11	21592315	21592315	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttctaaacaggatggCaagatattctgccgacggac	12	11	9	9	2	3	1	1	0	2	1	3	4	3	3	1	3	2	1	1	3	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:21592315C>T	ENST00000298925.5	+	19	2223	c.2070C>T	c.(2068-2070)ggC>ggT	p.G690G	NELL1_ENST00000532434.1_Silent_p.G615G|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.G605G|NELL1_ENST00000357134.5_Silent_p.G662G			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	662					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGGATGGCAAGATATTCT	0.438													15	58					0	0	0	0	T	21592315	C	T	21592315	2	4	443	1	0	0	0	0	0	0	0	1	10403	697	25	4		4	NELL1	11	21592315	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4176424	21592315	113414201	317	86978											
DEPDC7	91614	broad.mit.edu	37	chr11	33053026	33053026	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcaaccagaccgaacAgacttagtgaaagaacttct	15	7	8	11	1	1	5	0	2	1	3	1	6	1	5	3	0	4	1	3	0	5	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:33053026A>G	ENST00000311388.3	+	5	1234	c.858A>G	c.(856-858)acA>acG	p.T286T	DEPDC7_ENST00000241051.3_Silent_p.T295T	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	295					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CAGACCGAACAGACTTAGTGA	0.423													29	40					0	0	0	0	G	33053026	A	G	33053026	2	3	443	1	0	0	0	0	0	0	0	1	4481	175	7	5		5	DEPDC7	11	33053026	Silent	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	11460711	33053026	101953490	318	86979											
TTC17	55761	broad.mit.edu	37	chr11	43469657	43469657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtacctggcttgcagtttCttcaaaaaacattgagtaag	13	12	9	7	0	2	1	1	1	1	0	2	2	2	1	1	1	3	5	1	1	5	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:43469657C>G	ENST00000039989.4	+	19	2785	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	924							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTGCAGTTTCTTCAAAAAAC	0.502													6	36					0	0	0	0	G	43469657	C	G	43469657	3	3	443	1	0	0	0	0	1	0	0	0	16780	913	32	2	2845	2	TTC17	11	43469657	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	10416631	43469657	91536859	319	86980											
ALKBH3	221120	broad.mit.edu	37	chr11	43905554	43905554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagtacgtagagctcctgagCcacgagtgattgagtaagta	12	10	12	7	2	0	4	0	3	0	1	1	5	1	4	2	0	3	5	2	0	5	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:43905554C>A	ENST00000302708.4	+	4	616	c.205C>A	c.(205-207)Cca>Aca	p.P69T	ALKBH3_ENST00000378840.4_Missense_Mutation_p.P69T|ALKBH3_ENST00000532410.1_3'UTR	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	69					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	AGCTCCTGAGCCACGAGTGAT	0.423								Direct reversal of damage					11	164					2.80697e-09	3.12474e-09	1	0	A	43905554	C	A	43905554	3	1	443	1	0	0	0	0	1	0	0	0	528	739	26	4	215	4	ALKBH3	11	43905554	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	435897	43905554	91100962	320	86981											
SLC35C1	55343	broad.mit.edu	37	chr11	45832798	45832798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctgggcggctcctccgCctacacctgggtcaggggct	3	8	16	14	2	1	0	1	0	0	0	3	0	3	0	4	6	2	3	4	6	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:45832798C>G	ENST00000314134.3	+	2	2403	c.1007C>G	c.(1006-1008)gCc>gGc	p.A336G	SLC35C1_ENST00000442528.2_Missense_Mutation_p.A323G|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A323G	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	336						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GGCTCCTCCGCCTACACCTGG	0.627													3	29					0	0	0	0	G	45832798	C	G	45832798	3	3	443	1	0	0	0	0	1	0	0	0	14667	739	26	4	1013	4	SLC35C1	11	45832798	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1927244	45832798	89173718	321	86982											
LRP4	4038	broad.mit.edu	37	chr11	46895103	46895103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtggtcttcagccctcgcCcgatcactgtctccatgttg	5	12	9	15	2	4	0	2	0	2	0	6	1	4	0	3	1	1	1	3	1	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:46895103C>G	ENST00000378623.1	-	29	4513	c.4271G>C	c.(4270-4272)gGg>gCg	p.G1424A	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1424					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCCTCGCCCGATCACTGT	0.577													4	93					0	0	0	0	G	46895103	C	G	46895103	3	3	443	1	0	0	0	0	1	0	0	0	9023	623	22	4	1486	4	LRP4	11	46895103	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1062305	46895103	88111413	322	86983											
PTPRJ	5795	broad.mit.edu	37	chr11	48166390	48166390	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgttgggaatgagtcaacCacacttggttattacaatgg	12	11	11	7	1	1	1	1	1	0	0	1	3	1	2	1	3	2	2	1	3	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:48166390C>G	ENST00000418331.2	+	13	3091	c.2739C>G	c.(2737-2739)acC>acG	p.T913T		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	913					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGAGTCAACCACACTTGGTT	0.433													29	105					0	0	0	0	G	48166390	C	G	48166390	2	3	443	1	0	0	0	0	0	0	0	1	12886	581	21	4		4	PTPRJ	11	48166390	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1271287	48166390	86840126	323	86984											
OR4C15	81309	broad.mit.edu	37	chr11	55322862	55322862	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatggaacagactgatggtGgtttctgatgagaaagaaaa	16	10	12	3	0	1	5	0	3	1	3	1	7	1	6	0	3	1	1	0	3	5	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55322862G>C	ENST00000314644.2	+	1	1080	c.1080G>C	c.(1078-1080)gtG>gtC	p.V360V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTGATGGTGGTTTCTGATG	0.303										HNSCC(20;0.049)			4	50					0	0	0	0	C	55322862	G	C	55322862	2	2	443	1	0	0	0	0	0	0	0	1	11119	1335	47	4		4	OR4C15	11	55322862	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7156472	55322862	79683654	324	86985											
OR4C6	219432	broad.mit.edu	37	chr11	55433331	55433331	+	Missense_Mutation	SNP	G	G	A																															gaagtcttacagctctaaagGgcggcacaaagccctctcta																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55433331G>A	ENST00000314259.3	+	1	718	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	230					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						AGCTCTAAAGGGCGGCACAAA	0.498													54	63					0	0	0	0	A	55433331	G	A	55433331	3	1	443	1	0	0	0	0	1	0	0	0	11123	1232	43	4	691	4	OR4C6	11	55433331	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	110469	55433331	79573185	325	86986	1084	2									
OR4C6	219432	broad.mit.edu	37	chr11	55433332	55433332	+	Silent	SNP	G	G	A																															aagtcttacagctctaaaggGcggcacaaagccctctctac																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55433332G>A	ENST00000314259.3	+	1	719	c.690G>A	c.(688-690)ggG>ggA	p.G230G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	230					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						GCTCTAAAGGGCGGCACAAAG	0.498													52	66					0	0	0	0	A	55433332	G	A	55433332	2	1	443	1	0	0	0	0	0	0	0	1	11123	1190	42	4		4	OR4C6	11	55433332	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1	55433332	79573184	326	86987	1084	2									
OR5D13	390142	broad.mit.edu	37	chr11	55541039	55541039	+	Frame_Shift_Del	DEL	G	G	-																															gtctacacagtcactgtagtGgggaacttgggcatgataat																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55541039delG	ENST00000361760.1	+	1	126	c.126delG	c.(124-126)gtfs	p.V42fs		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCACTGTAGTGGGGAACTTGG	0.403													38	83	---	---	---	---					-	55541039	G	-	55541039	7	5	443	1	0	1	0	1	0	0	0	0	11225	1335	47	0	128	0	OR5D13	11	55541039	Frame_Shift_Del	DEL	G	TCGA-KU-A66S-01A-21D-A30E-08	107707	55541039	79465477	327	86988											
GLYAT	10249	broad.mit.edu	37	chr11	58477257	58477257	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catcacagaggtacacagttCcactggttccagcttctggg	9	10	10	12	0	2	1	1	0	1	1	4	1	4	1	2	3	2	4	2	3	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58477257C>G	ENST00000344743.3	-	6	1014	c.873G>C	c.(871-873)tgG>tgC	p.W291C	GLYAT_ENST00000529732.1_Missense_Mutation_p.W291C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	291					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTACACAGTTCCACTGGTTCC	0.433													7	100					0	0	0	0	G	58477257	C	G	58477257	3	3	443	1	0	0	0	0	1	0	0	0	6530	856	30	2	21	2	GLYAT	11	58477257	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2936218	58477257	76529259	328	86989											
MPEG1	219972	broad.mit.edu	37	chr11	58979086	58979086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggataacaggtgcaccGgggagtagccagaggggcag	10	5	18	8	1	1	1	0	0	1	1	1	3	1	3	2	6	3	3	2	6	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58979086G>A	ENST00000361050.3	-	1	1338	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	418						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CAGGTGCACCGGGGAGTAGCC	0.537													11	55					0	0	0	0	A	58979086	G	A	58979086	3	1	443	1	0	0	0	0	1	0	0	0	9793	1116	39	1	901	1	MPEG1	11	58979086	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	501829	58979086	76027430	329	86990											
MPEG1	219972	broad.mit.edu	37	chr11	58979418	58979418	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaagaaatgcagcggcagGccagagcggtcgatggccac	12	4	15	10	3	0	3	0	1	0	2	1	4	0	3	2	4	3	2	2	4	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58979418G>C	ENST00000361050.3	-	1	1006	c.921C>G	c.(919-921)ggC>ggG	p.G307G		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	307	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCAGCGGCAGGCCAGAGCGGT	0.582													8	35					0	0	0	0	C	58979418	G	C	58979418	2	2	443	1	0	0	0	0	0	0	0	1	9793	1190	42	4		4	MPEG1	11	58979418	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	332	58979418	76027098	330	86991											
TCN1	6947	broad.mit.edu	37	chr11	59629092	59629092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagttcccattgaacagaCacaaggccaaaacgtccagg	15	6	9	11	1	0	2	0	1	0	1	2	2	2	2	3	2	2	2	3	2	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:59629092C>A	ENST00000257264.3	-	4	568	c.464G>T	c.(463-465)tGt>tTt	p.C155F	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	155					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTGAACAGACACAAGGCCAA	0.433													22	83					3.8784e-16	4.59182e-16	1	0	A	59629092	C	A	59629092	3	1	443	1	0	0	0	0	1	0	0	0	15800	478	17	4	861	4	TCN1	11	59629092	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	649674	59629092	75377424	331	86992											
ZP1	22917	broad.mit.edu	37	chr11	60637319	60637319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaccctcgccaccctggctCaaccccactggggcaccttg	6	7	8	20	1	1	0	1	0	0	0	2	0	1	0	6	3	2	2	6	3	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:60637319C>G	ENST00000278853.5	+	3	628	c.628C>G	c.(628-630)Caa>Gaa	p.Q210E		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	210					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACCCTGGCTCAACCCCACTG	0.582													8	41					0	0	0	0	G	60637319	C	G	60637319	3	3	443	1	0	0	0	0	1	0	0	0	18308	827	29	2	638	2	ZP1	11	60637319	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1008227	60637319	74369197	332	86993											
AHNAK	79026	broad.mit.edu	37	chr11	62299719	62299719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggcctttgagttctcCttccagctttggtacagtta	5	18	9	9	0	1	1	0	1	1	0	3	1	2	1	3	2	2	4	3	2	2	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:62299719C>G	ENST00000378024.4	-	5	2444	c.2170G>C	c.(2170-2172)Gga>Cga	p.G724R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	724					nervous system development	nucleus	protein binding	p.G724*(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)				TTGAGTTCTCCTTCCAGCTTT	0.463													6	249					0	0	0	0	G	62299719	C	G	62299719	3	3	443	1	0	0	0	0	1	0	0	0	414	690	24	4	15622	4	AHNAK	11	62299719	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1662400	62299719	72706797	333	86994											
PYGM	5837	broad.mit.edu	37	chr11	64525373	64525373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcgaagccagtcatcggCctcctccatctgcacccaag	9	7	9	16	2	2	0	1	0	1	0	5	1	4	0	5	1	3	2	5	1	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:64525373C>G	ENST00000164139.3	-	5	936	c.538G>C	c.(538-540)Gcc>Ccc	p.A180P	PYGM_ENST00000377432.3_Missense_Mutation_p.A92P	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	180					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGTCATCGGCCTCCTCCATC	0.657													3	41					0	0	0	0	G	64525373	C	G	64525373	3	3	443	1	0	0	0	0	1	0	0	0	12944	739	26	4	2054	4	PYGM	11	64525373	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2225654	64525373	70481143	334	86995											
EHD1	10938	broad.mit.edu	37	chr11	64622179	64622179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgccgtcaaaggcgccgcCcttgaccacctgggaaggca	8	5	14	14	3	1	1	1	1	0	0	1	2	1	2	5	4	1	1	5	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:64622179C>G	ENST00000320631.3	-	5	1485	c.1231G>C	c.(1231-1233)Ggc>Cgc	p.G411R	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.G411R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	411					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AAGGCGCCGCCCTTGACCACC	0.677													9	201					0	0	0	0	G	64622179	C	G	64622179	3	3	443	1	0	0	0	0	1	0	0	0	5013	623	22	4	377	4	EHD1	11	64622179	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	96806	64622179	70384337	335	86996											
BRMS1	25855	broad.mit.edu	37	chr11	66108730	66108730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccccaaggggctccGtgtattcaggggctctctca	6	8	12	15	1	3	0	2	0	1	0	5	0	4	0	4	4	1	4	4	4	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:66108730G>C	ENST00000359957.3	-	4	465	c.305C>G	c.(304-306)aCg>aGg	p.T102R	BRMS1_ENST00000425825.2_Missense_Mutation_p.T102R	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	102					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						AAGGGGCTCCGTGTATTCAGG	0.617													7	50					0	0	0	0	C	66108730	G	C	66108730	3	2	443	1	0	0	0	0	1	0	0	0	1524	1145	40	3	607	3	BRMS1	11	66108730	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1486551	66108730	68897786	336	86997											
ADRBK1	156	broad.mit.edu	37	chr11	67047151	67047151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccacctggggaagaagcagGtgcctccggatctcttccag	8	7	13	13	1	1	1	0	0	1	1	4	3	3	3	5	4	2	1	5	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:67047151G>C	ENST00000308595.5	+	5	711	c.421G>C	c.(421-423)Gtg>Ctg	p.V141L	ADRBK1_ENST00000526285.1_Missense_Mutation_p.V141L	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	141	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAGAAGCAGGTGCCTCCGGA	0.622													3	46					0	0	0	0	C	67047151	G	C	67047151	3	2	443	1	0	0	0	0	1	0	0	0	343	1261	44	4	439	4	ADRBK1	11	67047151	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	938421	67047151	67959365	337	86998											
NUMA1	4926	broad.mit.edu	37	chr11	71729335	71729335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagggtttcatgcagcCgcatggtaaggctgcgaggg	7	9	16	9	2	2	0	2	0	0	0	2	1	2	0	1	4	3	6	1	4	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:71729335C>A	ENST00000393695.3	-	12	1203	c.872G>T	c.(871-873)cGg>cTg	p.R291L	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.R291L|NUMA1_ENST00000358965.6_Missense_Mutation_p.R291L	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	291					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCATGCAGCCGCATGGTAAG	0.577			T	RARA	APL								23	45					7.87624e-14	9.14161e-14	1	0	A	71729335	C	A	71729335	3	1	443	1	0	0	0	0	1	0	0	0	10821	652	23	3	5539	3	NUMA1	11	71729335	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4682184	71729335	63277181	338	86999											
CLPB	81570	broad.mit.edu	37	chr11	72069969	72069969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtagtcatcagcaagaaCagcatagtgcaaggccgtgc	12	6	13	10	2	2	1	2	0	0	1	2	1	2	1	1	2	5	4	1	2	5	2	rs139268876		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:72069969C>T	ENST00000294053.3	-	6	993	c.820G>A	c.(820-822)Gtt>Att	p.V274I	CLPB_ENST00000340729.5_Missense_Mutation_p.V215I|CLPB_ENST00000445069.2_Missense_Mutation_p.V170I|CLPB_ENST00000543042.1_Missense_Mutation_p.V73I|CLPB_ENST00000437826.2_Missense_Mutation_p.V229I|RP11-45F15.2_ENST00000537727.1_RNA|CLPB_ENST00000538039.1_Missense_Mutation_p.V244I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	274					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCAGCAAGAACAGCATAGTGC	0.582													39	53					0	0	0	0	T	72069969	C	T	72069969	3	4	443	1	0	0	0	0	1	0	0	0	3581	478	17	4	1351	4	CLPB	11	72069969	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	340634	72069969	62936547	339	87000											
PRKRIR	5612	broad.mit.edu	37	chr11	76062271	76062271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgattctccaacaatgaagCtcagctgacagcgtgtcagg	11	10	10	10	1	3	3	2	3	1	0	4	3	3	3	1	1	4	2	1	1	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:76062271C>A	ENST00000260045.3	-	5	2028	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	641					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AACAATGAAGCTCAGCTGACA	0.463													65	107					1.98135e-44	2.50053e-44	1	0	A	76062271	C	A	76062271	3	1	443	1	0	0	0	0	1	0	0	0	12606	796	28	4	366	4	PRKRIR	11	76062271	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3992302	76062271	58944245	340	87001											
TMEM126A	84233	broad.mit.edu	37	chr11	85366750	85366750	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatggtggtctagcagcCaggtaggaaataaaaaactt	16	9	11	5	0	1	0	0	0	1	0	1	1	1	1	1	4	3	3	1	4	8	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:85366750C>G	ENST00000304511.2	+	4	502	c.393C>G	c.(391-393)gcC>gcG	p.A131A	TMEM126A_ENST00000528105.1_Silent_p.A61A|TMEM126A_ENST00000532180.1_Silent_p.A61A	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	131						integral to membrane|mitochondrion				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTCTAGCAGCCAGGTAGGAAA	0.363													15	57					0	0	0	0	G	85366750	C	G	85366750	2	3	443	1	0	0	0	0	0	0	0	1	16132	581	21	4		4	TMEM126A	11	85366750	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	9304479	85366750	49639766	341	87002											
VPS11	55823	broad.mit.edu	37	chr11	118939912	118939912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgactaccctgcacatatgGaaggccagatctggttcttg	9	12	10	10	0	2	2	0	1	2	1	2	3	2	3	2	3	2	2	2	3	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:118939912G>C	ENST00000300793.6	+	2	235	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	65					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGCACATATGGAAGGCCAGAT	0.433													13	141					0	0	0	0	C	118939912	G	C	118939912	3	2	443	1	0	0	0	0	1	0	0	0	17284	1175	41	2	199	2	VPS11	11	118939912	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	33573162	118939912	16066604	342	87003											
SORL1	6653	broad.mit.edu	37	chr11	121367578	121367578	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttttttttttctgccagGggaattgatccctatgacaa	8	19	7	7	0	1	2	0	2	1	0	2	3	2	3	2	2	1	0	2	2	3	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:121367578G>A	ENST00000260197.7	+	6	888	c.758_splice	c.e6-1	p.W253_splice	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	253					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTCTGCCAGGGGAATTGATC	0.403													14	23					0	0	0	0	A	121367578	G	A	121367578	5	1	443	1	0	0	0	0	0	0	1	0	15022	1246	43	4	781	4	SORL1	11	121367578	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2427666	121367578	13638938	343	87004											
BSX	390259	broad.mit.edu	37	chr11	122848512	122848512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggctgccctcggggctttCtggcccgtctggtgctttgg	0	12	17	12	2	2	0	0	0	2	0	3	0	2	0	2	7	2	3	2	7	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:122848512C>G	ENST00000343035.2	-	3	595	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	183										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCGGGGCTTTCTGGCCCGTCT	0.642													11	42					0	0	0	0	G	122848512	C	G	122848512	3	3	443	1	0	0	0	0	1	0	0	0	1543	922	32	2	157	2	BSX	11	122848512	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1480934	122848512	12158004	344	87005											
OR8D2	283160	broad.mit.edu	37	chr11	124189669	124189669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataccacagccatcattatgGaacagaccctgtgggacatg	13	8	9	11	0	1	1	1	0	0	1	1	3	1	3	3	2	3	0	3	2	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:124189669G>T	ENST00000357438.2	-	1	515	c.425C>A	c.(424-426)tCc>tAc	p.S142Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	142					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)		CATCATTATGGAACAGACCCT	0.473													23	31					2.89027e-11	3.25845e-11	1	0	T	124189669	G	T	124189669	3	4	443	1	0	0	0	0	1	0	0	0	11303	1174	41	2	513	2	OR8D2	11	124189669	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1341157	124189669	10816847	345	87006											
KIRREL3	84623	broad.mit.edu	37	chr11	126314937	126314937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccacagcccggcacaCgtacttgcccgcgtcctcct	6	6	10	19	4	0	0	0	0	0	0	2	0	2	0	5	2	3	3	5	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:126314937C>A	ENST00000525144.2	-	10	1438	c.1189G>T	c.(1189-1191)Gtg>Ttg	p.V397L	KIRREL3_ENST00000529097.2_Missense_Mutation_p.V397L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.V397L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	397	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCCCGGCACACGTACTTGCCC	0.637													33	34					5.8336e-16	6.89514e-16	1	0	A	126314937	C	A	126314937	3	1	443	1	0	0	0	0	1	0	0	0	8378	536	19	3	1286	3	KIRREL3	11	126314937	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2125268	126314937	8691579	346	87007											
OPCML	4978	broad.mit.edu	37	chr11	132527066	132527066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggaccttcgtcatacacatCcacattttggatcatgatgc	10	12	7	12	2	2	1	2	1	0	0	4	3	3	3	2	2	2	0	2	2	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:132527066C>G	ENST00000331898.7	-	2	894	c.316G>C	c.(316-318)Gat>Cat	p.D106H	OPCML_ENST00000374778.4_Missense_Mutation_p.D65H|OPCML_ENST00000541867.1_Missense_Mutation_p.D106H|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.D99H	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	106	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCATACACATCCACATTTTGG	0.502													15	44					0	0	0	0	G	132527066	C	G	132527066	3	3	443	1	0	0	0	0	1	0	0	0	10945	855	30	2	745	2	OPCML	11	132527066	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6212129	132527066	2479450	347	87008											
RAD52	5893	broad.mit.edu	37	chr12	1023247	1023247	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacaccatcccctgcatcGggagtcacagcccacttttc	9	8	6	18	1	1	0	1	0	0	0	4	1	2	1	5	1	2	1	5	1	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:1023247G>C	ENST00000358495.3	-	11	1146	c.1008C>G	c.(1006-1008)ccC>ccG	p.P336P	RAD52_ENST00000430095.2_Silent_p.P336P|RAD52_ENST00000539046.1_Silent_p.P259P|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	336					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CCCCTGCATCGGGAGTCACAG	0.498								Homologous recombination					4	51					0	0	0	0	C	1023247	G	C	1023247	2	2	443	1	0	0	0	0	0	0	0	1	13073	1103	39	3		3	RAD52	12	1023247	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		1023247	132828648	348	87009											
KCNA1	3736	broad.mit.edu	37	chr12	5020659	5020659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgagtgctgcgagcgcGtggtgatcaacatctccggg	8	7	14	12	5	2	1	1	1	1	0	3	3	2	1	2	2	4	1	2	2	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:5020659G>C	ENST00000382545.3	+	2	1222	c.115G>C	c.(115-117)Gtg>Ctg	p.V39L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	39					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGCGAGCGCGTGGTGATCAA	0.672													11	55					0	0	0	0	C	5020659	G	C	5020659	3	2	443	1	0	0	0	0	1	0	0	0	8054	1145	40	3	117	3	KCNA1	12	5020659	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3997412	5020659	128831236	349	87010											
CLEC2D	29121	broad.mit.edu	37	chr12	9847437	9847437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactacacagagaggaaGtggatttgttccaaatcaga	15	8	11	7	0	1	2	1	0	0	2	2	5	2	4	1	3	1	2	1	3	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:9847437G>C	ENST00000290855.6	+	5	565	c.543G>C	c.(541-543)aaG>aaC	p.K181N	CLEC2D_ENST00000261339.6_Missense_Mutation_p.K144N|CLEC2D_ENST00000261340.7_3'UTR	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	181	C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						CAGAGAGGAAGTGGATTTGTT	0.418													10	45					0	0	0	0	C	9847437	G	C	9847437	3	2	443	1	0	0	0	0	1	0	0	0	3538	1020	36	4	647	4	CLEC2D	12	9847437	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4826778	9847437	124004458	350	87011											
CCDC91	55297	broad.mit.edu	37	chr12	28459739	28459739	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgggtttaactgatgaaaAaagtaatggaacaattgccc	16	11	9	5	0	0	2	0	2	0	0	0	3	0	3	1	2	3	2	1	2	7	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:28459739A>G	ENST00000545336.1	+	8	751	c.332A>G	c.(331-333)aAa>aGa	p.K111R	CCDC91_ENST00000306172.5_Missense_Mutation_p.K81R|CCDC91_ENST00000381256.1_Missense_Mutation_p.K111R|CCDC91_ENST00000539107.1_Missense_Mutation_p.K111R|CCDC91_ENST00000381259.1_Missense_Mutation_p.K111R|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	111					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACTGATGAAAAAAGTAATGGA	0.353													24	46					0	0	0	0	G	28459739	A	G	28459739	3	3	443	1	0	0	0	0	1	0	0	0	2897	14	1	5	346	5	CCDC91	12	28459739	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	18612302	28459739	105392156	351	87012											
CCDC91	55297	broad.mit.edu	37	chr12	28702084	28702084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaagtgctttaatagctaCggaaccagttgacattgaat	13	13	9	6	1	0	2	0	2	0	0	0	3	0	3	1	1	4	4	1	1	6	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:28702084C>A	ENST00000545336.1	+	16	1723	c.1304C>A	c.(1303-1305)aCg>aAg	p.T435K	CCDC91_ENST00000306172.5_Missense_Mutation_p.T405K|CCDC91_ENST00000381256.1_Missense_Mutation_p.T399K|CCDC91_ENST00000539107.1_Missense_Mutation_p.T399K|CCDC91_ENST00000381259.1_Missense_Mutation_p.T435K|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	435					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTAATAGCTACGGAACCAGTT	0.378													38	76					5.71845e-15	6.68096e-15	1	0	A	28702084	C	A	28702084	3	1	443	1	0	0	0	0	1	0	0	0	2897	536	19	3	1350	3	CCDC91	12	28702084	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	242345	28702084	105149811	352	87013											
CAPRIN2	65981	broad.mit.edu	37	chr12	30884431	30884431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatttagacagtagatcCttcaagtgtttgtctaagaa	14	13	8	6	0	2	3	1	0	1	3	3	3	3	3	1	0	1	3	1	0	6	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:30884431C>G	ENST00000251071.5	-	6	1656	c.906G>C	c.(904-906)aaG>aaC	p.K302N	CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.K302N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.K302N|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.K302N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	302					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACAGTAGATCCTTCAAGTGTT	0.353													19	34					0	0	0	0	G	30884431	C	G	30884431	3	3	443	1	0	0	0	0	1	0	0	0	2661	680	24	4	2529	4	CAPRIN2	12	30884431	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2182347	30884431	102967464	353	87014											
PDZRN4	29951	broad.mit.edu	37	chr12	41967276	41967276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattaggagcgacgggacaCggtacatcacaaagagaccc	16	4	11	10	3	1	1	1	0	0	1	1	5	1	3	1	3	2	1	1	3	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:41967276C>G	ENST00000298919.7	+	10	2303	c.1915C>G	c.(1915-1917)Cgg>Ggg	p.R639G	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R641G|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R899G			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	899							ubiquitin-protein ligase activity|zinc ion binding	p.R641G(1)|p.R899G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGACGGGACACGGTACATCAC	0.517													16	105					0	0	0	0	G	41967276	C	G	41967276	3	3	443	1	0	0	0	0	1	0	0	0	11781	527	19	3	2806	3	PDZRN4	12	41967276	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	11082845	41967276	91884619	354	87015											
PFKM	5213	broad.mit.edu	37	chr12	48524145	48524145	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgtccctcctttcaGgtatgaatgctgctgtcagg	5	17	9	10	0	3	1	2	1	1	0	5	1	5	1	2	2	2	3	2	2	2	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:48524145G>C	ENST00000340802.6	+	5	522		c.e5-1		PFKM_ENST00000395233.2_Splice_Site|PFKM_ENST00000359794.5_Splice_Site|PFKM_ENST00000551804.1_Splice_Site|PFKM_ENST00000547587.1_Splice_Site|PFKM_ENST00000551548.1_Splice_Site|PFKM_ENST00000312352.7_Splice_Site	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle						fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCCTTTCAGGTATGAATGC	0.468													5	136					0	0	0	0	C	48524145	G	C	48524145	5	2	443	1	0	0	0	0	0	0	1	0	11837	1014	35	4	312	4	PFKM	12	48524145	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6556869	48524145	85327750	355	87016											
KRT74	121391	broad.mit.edu	37	chr12	52967279	52967279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccagggccacactgcCaaacatactgccagcaaagc	13	3	9	16	0	0	0	0	0	0	0	0	0	0	0	5	2	6	1	5	2	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:52967279C>T	ENST00000549343.1	-	1	321	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	KRT74_ENST00000305620.2_Missense_Mutation_p.G95S			Q7RTS7	K2C74_HUMAN	keratin 74	95	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCACACTGCCAAACATACTG	0.637													33	53					0	0	0	0	T	52967279	C	T	52967279	3	4	443	1	0	0	0	0	1	0	0	0	8539	594	21	4	1342	4	KRT74	12	52967279	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4443134	52967279	80884616	356	87017											
TARBP2	6895	broad.mit.edu	37	chr12	53899503	53899503	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggattctctacgaaattCagtaggagagaagatcctgt	12	11	11	7	1	2	2	1	0	1	2	4	6	3	4	1	2	1	1	1	2	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:53899503C>G	ENST00000266987.2	+	8	1295	c.812C>G	c.(811-813)tCa>tGa	p.S271*	TARBP2_ENST00000456234.2_Nonsense_Mutation_p.S250*|TARBP2_ENST00000394357.2_Nonsense_Mutation_p.S250*|TARBP2_ENST00000552857.1_Missense_Mutation_p.F137L	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	271	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CTACGAAATTCAGTAGGAGAG	0.602													6	154					0	0	0	0	G	53899503	C	G	53899503	4	3	443	1	0	0	0	0	0	1	0	0	15647	838	29	2	842	2	TARBP2	12	53899503	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	932224	53899503	79952392	357	87018											
WIBG	84305	broad.mit.edu	37	chr12	56295745	56295745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgctaggctggctgaCttccccagcctggatccgct	4	12	10	15	1	1	1	0	1	1	0	3	2	3	2	4	3	2	4	4	3	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:56295745C>G	ENST00000408946.2	-	3	677	c.526G>C	c.(526-528)Gtc>Ctc	p.V176L	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.V175L	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	176	eIF2A-like.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCTGGCTGACTTCCCCAGCC	0.542													11	314					0	0	0	0	G	56295745	C	G	56295745	3	3	443	1	0	0	0	0	1	0	0	0	17461	565	20	4	92	4	WIBG	12	56295745	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2396242	56295745	77556150	358	87019											
MBD6	114785	broad.mit.edu	37	chr12	57921681	57921681	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccctccccagcctgttgCagcctcctggccctcttctc	3	10	8	20	0	2	0	0	0	2	0	5	1	4	0	7	1	4	2	7	1	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:57921681C>T	ENST00000355673.3	+	9	2643	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.Q763*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	763	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGCCTGTTGCAGCCTCCTGG	0.612													62	85					0	0	0	0	T	57921681	C	T	57921681	4	4	443	1	0	0	0	0	0	1	0	0	9417	711	25	4	2313	4	MBD6	12	57921681	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1625936	57921681	75930214	359	87020											
LIN7A	8825	broad.mit.edu	37	chr12	81239533	81239533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgttcactgatagcagctgGtctcctcttttgaggcctcc	5	13	9	14	1	3	2	1	2	2	0	5	2	4	2	4	2	2	3	4	2	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:81239533G>T	ENST00000552864.1	-	4	661	c.459C>A	c.(457-459)gaC>gaA	p.D153E		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	153	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ATAGCAGCTGGTCTCCTCTTT	0.428													13	36					1.52009e-12	1.73305e-12	1	0	T	81239533	G	T	81239533	3	4	443	1	0	0	0	0	1	0	0	0	8865	1252	44	4	250	4	LIN7A	12	81239533	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	23317852	81239533	52612362	360	87021											
ACSS3	79611	broad.mit.edu	37	chr12	81568586	81568586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagcctgtgggaacacCagatgctggcgcttatttcc	8	9	14	10	1	0	1	0	0	0	1	1	3	1	3	3	4	3	2	3	4	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:81568586C>A	ENST00000548058.1	+	8	2028	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	ACSS3_ENST00000548324.1_Missense_Mutation_p.P55Q|ACSS3_ENST00000261206.3_Missense_Mutation_p.P372Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	373						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTGGGAACACCAGATGCTGGC	0.438													9	22					0.0581538	0.0587345	1	0	A	81568586	C	A	81568586	3	1	443	1	0	0	0	0	1	0	0	0	190	594	21	4	1148	4	ACSS3	12	81568586	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	329053	81568586	52283309	361	87022											
DCN	1634	broad.mit.edu	37	chr12	91558412	91558412	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggttcttaaagtctccAtctttgatttcggttatttt	7	21	6	7	1	4	1	1	1	3	0	6	1	4	1	1	2	0	2	1	2	3	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:91558412A>G	ENST00000052754.5	-	3	795	c.294T>C	c.(292-294)gaT>gaC	p.D98D	DCN_ENST00000228329.5_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Silent_p.D98D|DCN_ENST00000393155.1_Silent_p.D98D|DCN_ENST00000441303.2_Silent_p.D98D|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Silent_p.D98D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	98					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TAAAGTCTCCATCTTTGATTT	0.363													12	25					0	0	0	0	G	91558412	A	G	91558412	2	3	443	1	0	0	0	0	0	0	0	1	4329	214	8	5		5	DCN	12	91558412	Silent	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	9989826	91558412	42293483	362	87023											
ACTR6	64431	broad.mit.edu	37	chr12	100617626	100617626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatgattttgaagataTggtggtaacaagagaagatt	16	12	12	1	0	0	6	0	3	0	3	0	8	0	6	0	2	1	1	0	2	6	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:100617626T>C	ENST00000188312.2	+	11	1889	c.1124T>C	c.(1123-1125)aTg>aCg	p.M375T	ACTR6_ENST00000546902.1_Missense_Mutation_p.M293T|ACTR6_ENST00000552376.1_Missense_Mutation_p.M355T|ACTR6_ENST00000551617.1_Missense_Mutation_p.M273T	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	375						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TTTGAAGATATGGTGGTAACA	0.333													35	36					0	0	0	0	C	100617626	T	C	100617626	3	2	443	1	0	0	0	0	1	0	0	0	216	1464	51	5	1166	5	ACTR6	12	100617626	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	9059214	100617626	33234269	363	87024											
SELPLG	6404	broad.mit.edu	37	chr12	109018036	109018036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcccacagctgcaagctGttgccagggcccagtaggat	8	8	13	12	0	0	0	0	0	0	0	1	1	1	1	3	2	4	5	3	2	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:109018036G>C	ENST00000388962.3	-	2	207	c.48C>G	c.(46-48)aaC>aaG	p.N16K	SELPLG_ENST00000228463.6_Missense_Mutation_p.N32K|SELPLG_ENST00000550948.1_Missense_Mutation_p.N16K	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	16					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCAAGCTGTTGCCAGGGC	0.592													13	34					0	0	0	0	C	109018036	G	C	109018036	3	2	443	1	0	0	0	0	1	0	0	0	14107	1368	48	4	1168	4	SELPLG	12	109018036	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8400410	109018036	24833859	364	87025											
DTX1	1840	broad.mit.edu	37	chr12	113533182	113533182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcaagaggattccctcGccactgctatctacccaaca	11	7	6	17	2	1	1	0	0	1	1	3	2	2	2	4	1	3	2	4	1	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:113533182G>A	ENST00000257600.3	+	8	2104	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	534					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.R534H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGATTCCCTCGCCACTGCTAT	0.612													30	46					0	0	0	0	A	113533182	G	A	113533182	3	1	443	1	0	0	0	0	1	0	0	0	4829	1087	38	1	1631	1	DTX1	12	113533182	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4515146	113533182	20318713	365	87026											
VSIG10	54621	broad.mit.edu	37	chr12	118517331	118517331	+	Missense_Mutation	SNP	C	C	A																															gtcagggtcagggtatccccCatcccagcgacaggtaagct																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:118517331C>A	ENST00000359236.5	-	4	1021	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	249	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGGTATCCCCCATCCCAGCGA	0.562													43	68					1.47197e-15	1.73403e-15	1	0	A	118517331	C	A	118517331	3	1	443	1	0	0	0	0	1	0	0	0	17319	594	21	4	901	4	VSIG10	12	118517331	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4984149	118517331	15334564	366	87027	1085	2									
VSIG10	54621	broad.mit.edu	37	chr12	118517333	118517333	+	Missense_Mutation	SNP	T	T	A																															cagggtcagggtatcccccaTcccagcgacaggtaagctgc																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:118517333T>A	ENST00000359236.5	-	4	1019	c.743A>T	c.(742-744)gAt>gTt	p.D248V		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	248	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTATCCCCCATCCCAGCGACA	0.567													45	66					0	0	0	0	A	118517333	T	A	118517333	3	1	443	1	0	0	0	0	1	0	0	0	17319	1435	50	5	903	5	VSIG10	12	118517333	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	2	118517333	15334562	367	87028	1085	2									
DNAH10	196385	broad.mit.edu	37	chr12	124330610	124330610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaacatccgccagtgcacggGaacctttggctacggctacg	9	7	12	13	4	0	0	0	0	0	0	1	2	1	1	3	3	5	3	3	3	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:124330610G>C	ENST00000409039.3	+	31	5394	c.5369G>C	c.(5368-5370)gGa>gCa	p.G1790A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1790	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGCACGGGAACCTTTGGC	0.597													4	114					0	0	0	0	C	124330610	G	C	124330610	3	2	443	1	0	0	0	0	1	0	0	0	4635	1174	41	2	5491	2	DNAH10	12	124330610	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5813277	124330610	9521285	368	87029											
UBC	7316	broad.mit.edu	37	chr12	125396269	125396269	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggggaaacttagacaccCcccctcaagcgcaggaccaa	15	3	9	14	1	1	1	1	0	0	1	1	3	1	3	4	3	2	1	4	3	5	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:125396269C>G	ENST00000536769.1	-	1	3625	c.2049G>C	c.(2047-2049)ggG>ggC	p.G683G	UBC_ENST00000546120.1_Silent_p.G607G|UBC_ENST00000339647.5_Silent_p.G683G|UBC_ENST00000538617.1_Silent_p.G303G			P0CG48	UBC_HUMAN	ubiquitin C	683	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTAGACACCCCCCCTCAAGC	0.423													37	62					0	0	0	0	G	125396269	C	G	125396269	2	3	443	1	0	0	0	0	0	0	0	1	16938	610	22	4		4	UBC	12	125396269	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1065659	125396269	8455626	369	87030											
TMEM132D	121256	broad.mit.edu	37	chr12	129694095	129694095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcagacgatctacaCtccacagactccagcagctc	11	9	5	16	1	4	2	2	0	2	2	7	3	6	2	2	0	3	2	2	0	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:129694095C>G	ENST00000422113.2	-	5	1739	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	471						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACGATCTACACTCCACAGACT	0.577													3	30					0	0	0	0	G	129694095	C	G	129694095	3	3	443	1	0	0	0	0	1	0	0	0	16141	564	20	4	1906	4	TMEM132D	12	129694095	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4297826	129694095	4157800	370	87031											
LATS2	26524	broad.mit.edu	37	chr13	21562921	21562921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggcgaacacctggctgcggGagcccagcacatgcagctgg	8	5	15	13	2	0	0	0	0	0	0	0	2	0	1	2	4	6	4	2	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:21562921G>C	ENST00000382592.4	-	4	1403	c.998C>G	c.(997-999)tCc>tGc	p.S333C	LATS2_ENST00000542899.1_Missense_Mutation_p.S333C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	333					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGGCTGCGGGAGCCCAGCAC	0.701													3	62					0	0	0	0	C	21562921	G	C	21562921	3	2	443	1	0	0	0	0	1	0	0	0	8700	1174	41	2	2288	2	LATS2	13	21562921	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		21562921	93606957	371	87032											
WASF3	10810	broad.mit.edu	37	chr13	27254337	27254337	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaggacagagtgcccagcGggtttgttgttttgctttct	7	14	13	7	1	1	2	0	0	1	2	1	3	1	3	1	2	3	4	1	2	1	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:27254337G>A	ENST00000361042.4	+	7	931	c.707_splice	c.e7+1	p.G236_splice	WASF3_ENST00000335327.5_Intron			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	239					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGTGCCCAGCGGGTTTGTTGT	0.527													3	34					0	0	0	0	A	27254337	G	A	27254337	5	1	443	1	0	0	0	0	0	0	1	0	17350	1131	39	1		1	WASF3	13	27254337	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5691416	27254337	87915541	372	87033											
FRY	10129	broad.mit.edu	37	chr13	32821508	32821508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgaagctggtagtttctCggtcagccagccttgtttta	6	16	10	9	1	3	1	1	1	2	0	4	1	3	1	2	2	3	4	2	2	3	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:32821508C>T	ENST00000380250.3	+	48	7373	c.6877C>T	c.(6877-6879)Cgg>Tgg	p.R2293W		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		GGTAGTTTCTCGGTCAGCCAG	0.388													46	55					0	0	0	0	T	32821508	C	T	32821508	3	4	443	1	0	0	0	0	1	0	0	0	6111	875	31	1	7067	1	FRY	13	32821508	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	5567171	32821508	82348370	373	87034											
FRY	10129	broad.mit.edu	37	chr13	32839624	32839625	+	Frame_Shift_Ins	INS	-	-	T																															gaggaggacaccaccgtgcaINStgaggatgatctttctagtt																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:32839624_32839625insT	ENST00000380250.3	+	54	8313_8314	c.7817_7818insT	c.(7816-7818)cgafs	p.R2606fs	FRY_ENST00000542859.1_5'UTR	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		ACCACCGTGCATGAGGATGATC	0.46													27	43	---	---	---	---					T	32839625	-	T	32839624	7	5	443	1	0	1	1	0	0	0	0	0	6111	217	8	0	8031	0	FRY	13	32839624	Frame_Shift_Ins	INS	-	TCGA-KU-A66S-01A-21D-A30E-08	18116	32839624	82330254	374	87035											
KL	9365	broad.mit.edu	37	chr13	33591149	33591149	+	Missense_Mutation	SNP	C	C	G																															gcgtgcagcccgtggtcaccCtgtaccactgggacctgccc																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591149C>G	ENST00000380099.3	+	1	579	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	191	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGTGGTCACCCTGTACCACTG	0.726													3	12					0	0	0	0	G	33591149	C	G	33591149	3	3	443	1	0	0	0	0	1	0	0	0	8383	680	24	4	573	4	KL	13	33591149	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	751525	33591149	81578729	375	87036	1086	2									
KL	9365	broad.mit.edu	37	chr13	33591157	33591157	+	Missense_Mutation	SNP	C	C	G																															cccgtggtcaccctgtaccaCtgggacctgccccagcgcct																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591157C>G	ENST00000380099.3	+	1	587	c.579C>G	c.(577-579)caC>caG	p.H193Q	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	193	Glycosyl hydrolase-1 1.		H -> R (in HFTC; impairs the ability to form a ternary complex with FGF23 and FGFR1c; impairs KL-dependent FGF23 signaling).		aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCTGTACCACTGGGACCTGC	0.731													3	14					0	0	0	0	G	33591157	C	G	33591157	3	3	443	1	0	0	0	0	1	0	0	0	8383	564	20	4	581	4	KL	13	33591157	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	8	33591157	81578721	376	87037	1086	2									
KL	9365	broad.mit.edu	37	chr13	33591184	33591184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccagcgcctgcaggaCgcctacggcggctgggccaa	6	4	14	17	4	0	0	0	0	0	0	0	1	0	1	5	4	4	2	5	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591184C>T	ENST00000380099.3	+	1	614	c.606C>T	c.(604-606)gaC>gaT	p.D202D	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	202	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTGCAGGACGCCTACGGCG	0.697													3	14					0	0	0	0	T	33591184	C	T	33591184	2	4	443	1	0	0	0	0	0	0	0	1	8383	535	19	1		1	KL	13	33591184	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	27	33591184	81578694	377	87038											
FREM2	341640	broad.mit.edu	37	chr13	39451318	39451318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgctctctaagaagaGtctctggttgtctgatggat	8	14	11	8	0	3	3	0	1	3	2	5	4	3	4	1	2	2	3	1	2	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:39451318G>C	ENST00000280481.7	+	21	8825	c.8609G>C	c.(8608-8610)aGt>aCt	p.S2870T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2870					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTAAGAAGAGTCTCTGGTTG	0.433													5	239					0	0	0	0	C	39451318	G	C	39451318	3	2	443	1	0	0	0	0	1	0	0	0	6093	1029	36	4	8691	4	FREM2	13	39451318	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5860134	39451318	75718560	378	87039											
SPERT	220082	broad.mit.edu	37	chr13	46287426	46287426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggatggcgagccagcactCctatccactgaaccgcttct	9	8	9	15	2	1	1	0	1	1	0	3	3	3	2	4	2	3	2	4	2	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:46287426C>A	ENST00000378966.3	+	2	574	c.158C>A	c.(157-159)tCc>tAc	p.S53Y	SPERT_ENST00000310521.1_Missense_Mutation_p.S89Y			Q8NA61	SPERT_HUMAN	spermatid associated	89						cytoplasmic membrane-bounded vesicle		p.S89F(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCCAGCACTCCTATCCACTG	0.682													36	50					1.26612e-14	1.47436e-14	1	0	A	46287426	C	A	46287426	3	1	443	1	0	0	0	0	1	0	0	0	15129	855	30	2	276	2	SPERT	13	46287426	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6836108	46287426	68882452	379	87040											
FNDC3A	22862	broad.mit.edu	37	chr13	49765462	49765462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtagaatgtacagtgaGcagccttcttcctggaaaga	13	10	11	7	0	1	4	0	2	1	2	2	5	2	5	2	1	3	3	2	1	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:49765462G>C	ENST00000492622.2	+	19	2473	c.2168G>C	c.(2167-2169)aGc>aCc	p.S723T	FNDC3A_ENST00000398316.3_Missense_Mutation_p.S667T|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S723T	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	723	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGTACAGTGAGCAGCCTTCTT	0.418													4	89					0	0	0	0	C	49765462	G	C	49765462	3	2	443	1	0	0	0	0	1	0	0	0	6014	971	34	4	2249	4	FNDC3A	13	49765462	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3478036	49765462	65404416	380	87041											
FBXL3	26224	broad.mit.edu	37	chr13	77581466	77581466	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacatgagacttcacattcCcctagtccaatagctgacaa	13	10	5	13	0	1	2	1	2	0	1	3	3	3	2	3	0	2	1	3	0	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:77581466C>G	ENST00000355619.5	-	5	1425	c.1101G>C	c.(1099-1101)ggG>ggC	p.G367G	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	367					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		CTTCACATTCCCCTAGTCCAA	0.418													5	101					0	0	0	0	G	77581466	C	G	77581466	2	3	443	1	0	0	0	0	0	0	0	1	5765	610	22	4		4	FBXL3	13	77581466	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	27816004	77581466	37588412	381	87042											
SLITRK5	26050	broad.mit.edu	37	chr13	88327882	88327882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaaattagccctccccGtttcccaatctaccacctct	8	12	3	18	1	3	1	0	1	3	0	5	1	5	1	6	0	2	1	6	0	4	3	rs144076922		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:88327882G>C	ENST00000325089.6	+	2	458	c.239G>C	c.(238-240)cGt>cCt	p.R80P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	80						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGCCCTCCCCGTTTCCCAATC	0.458													76	140					0	0	0	0	C	88327882	G	C	88327882	3	2	443	1	0	0	0	0	1	0	0	0	14834	1145	40	3	241	3	SLITRK5	13	88327882	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	10746416	88327882	26841996	382	87043											
RNF113B	140432	broad.mit.edu	37	chr13	98829284	98829284	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgccttctgccagctgtgGaggccccggggcctcggtgc	2	7	16	16	3	1	0	0	0	1	0	2	1	1	1	6	5	3	1	6	5	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:98829284G>T	ENST00000267291.6	-	1	235	c.207C>A	c.(205-207)ctC>ctA	p.L69L	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	69							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GCCAGCTGTGGAGGCCCCGGG	0.746													4	17					0.150653	0.151295	1	0	T	98829284	G	T	98829284	2	4	443	1	0	0	0	0	0	0	0	1	13513	1161	41	2		2	RNF113B	13	98829284	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	10501402	98829284	16340594	383	87044											
NALCN	259232	broad.mit.edu	37	chr13	101910915	101910915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtggaaaacggatgacCgcatcattttctgagggggc	11	9	13	8	2	2	2	1	2	1	0	2	4	2	4	1	4	1	1	1	4	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:101910915C>A	ENST00000251127.6	-	11	1226	c.1145G>T	c.(1144-1146)cGg>cTg	p.R382L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R382L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	382						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACGGATGACCGCATCATTTT	0.463													14	34					1.52009e-12	1.73305e-12	1	0	A	101910915	C	A	101910915	3	1	443	1	0	0	0	0	1	0	0	0	10218	652	23	3	4207	3	NALCN	13	101910915	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3081631	101910915	13258963	384	87045											
COL4A1	1282	broad.mit.edu	37	chr13	110815867	110815867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggggcaccgtcaaacccagGaatacctggaggtccaggta	12	5	13	11	1	1	0	1	0	0	0	2	2	2	2	4	6	2	2	4	6	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:110815867G>C	ENST00000375820.4	-	47	4313	c.4192C>G	c.(4192-4194)Cct>Gct	p.P1398A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1398	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCAAACCCAGGAATACCTGGA	0.498													3	28					0	0	0	0	C	110815867	G	C	110815867	3	2	443	1	0	0	0	0	1	0	0	0	3719	1174	41	2	841	2	COL4A1	13	110815867	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	8904952	110815867	4354011	385	87046											
SOX1	6656	broad.mit.edu	37	chr13	112722289	112722289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcgacgaggccaagcGgctgcgcgcgctgcacatga	8	6	14	13	6	1	1	1	1	0	0	2	3	1	1	1	2	3	4	1	2	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:112722289G>T	ENST00000330949.1	+	1	377	c.317G>T	c.(316-318)cGg>cTg	p.R106L		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	106					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GAGGCCAAGCGGCTGCGCGCG	0.637													13	71					4.93089e-13	5.65814e-13	1	0	T	112722289	G	T	112722289	3	4	443	1	0	0	0	0	1	0	0	0	15028	1116	39	3	319	3	SOX1	13	112722289	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1906422	112722289	2447589	386	87047											
GAS6	2621	broad.mit.edu	37	chr13	114530081	114530081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtttcctggatggtggtGtcttctccgttcagccagtt	4	15	11	11	2	3	0	1	0	2	0	5	1	4	1	4	3	1	3	4	3	0	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:114530081G>C	ENST00000357389.3	-	12	1646	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	GAS6_ENST00000450766.1_Missense_Mutation_p.D182E|GAS6_ENST00000327773.6_Missense_Mutation_p.D455E|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.D156E|GAS6_ENST00000355761.4_Missense_Mutation_p.D401E			Q14393	GAS6_HUMAN	growth arrest-specific 6	498	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGATGGTGGTGTCTTCTCCGT	0.562													9	70					0	0	0	0	C	114530081	G	C	114530081	3	2	443	1	0	0	0	0	1	0	0	0	6298	1368	48	4	687	4	GAS6	13	114530081	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1807792	114530081	639797	387	87048											
OR4K17	390436	broad.mit.edu	37	chr14	20586299	20586299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagctgtttcattatttTgcttatctcctacagtctga	7	18	6	10	0	3	2	1	2	2	0	4	2	3	2	2	0	3	3	2	0	3	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:20586299T>C	ENST00000315543.4	+	1	734	c.734T>C	c.(733-735)tTg>tCg	p.L245S		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTCATTATTTTGCTTATCTCC	0.428													48	82					0	0	0	0	C	20586299	T	C	20586299	3	2	443	1	0	0	0	0	1	0	0	0	11142	1821	63	5	736	5	OR4K17	14	20586299	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08		20586299	86763241	388	87049											
RNASE3	6037	broad.mit.edu	37	chr14	21360228	21360228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactgcacgtatgcagacaGaccaggaaggaggttctatg	14	7	12	8	1	1	2	0	0	1	2	1	4	1	4	1	3	3	4	1	3	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:21360228G>C	ENST00000304639.3	+	2	441	c.383G>C	c.(382-384)aGa>aCa	p.R128T		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	128					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TATGCAGACAGACCAGGAAGG	0.473													23	90					0	0	0	0	C	21360228	G	C	21360228	3	2	443	1	0	0	0	0	1	0	0	0	13490	942	33	2	385	2	RNASE3	14	21360228	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	773929	21360228	85989312	389	87050											
CHD8	57680	broad.mit.edu	37	chr14	21896184	21896184	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actcgtcctcatttaagactCgaggtatgttctgctcaccg	8	13	8	12	3	3	1	2	0	1	1	6	2	4	1	2	1	1	3	2	1	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:21896184C>G	ENST00000399982.2	-	3	1509	c.1445G>C	c.(1444-1446)cGa>cCa	p.R482P	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R203P|CHD8_ENST00000557364.1_Missense_Mutation_p.R482P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	482					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTTAAGACTCGAGGTATGTT	0.547													7	95					0	0	0	0	G	21896184	C	G	21896184	3	3	443	1	0	0	0	0	1	0	0	0	3360	884	31	3	6440	3	CHD8	14	21896184	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	535956	21896184	85453356	390	87051											
JPH4	84502	broad.mit.edu	37	chr14	24040346	24040346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtcgctgcagcctccgaGgagtggggaaccgtctctgg	6	8	15	12	3	1	0	0	0	1	0	4	3	2	2	3	4	3	2	3	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:24040346G>A	ENST00000397118.3	-	6	2496	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F	JPH4_ENST00000544177.1_Missense_Mutation_p.L197F|JPH4_ENST00000356300.4_Missense_Mutation_p.L532F	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	532					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCCTCCGAGGAGTGGGGAA	0.672													137	185					0	0	0	0	A	24040346	G	A	24040346	3	1	443	1	0	0	0	0	1	0	0	0	8016	1000	35	4	300	4	JPH4	14	24040346	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2144162	24040346	83309194	391	87052											
DHRS4L2	317749	broad.mit.edu	37	chr14	24464335	24464335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcaccgaggaggtgtGggacaaggtgagaggggatt	10	7	20	4	1	1	1	1	1	0	1	1	7	1	5	1	7	0	0	1	7	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:24464335G>C	ENST00000335125.6	+	3	527	c.401G>C	c.(400-402)tGg>tCg	p.W134S	DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.W132S|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.W33S|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.W134S|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.W134S|DHRS4L2_ENST00000558753.1_Intron	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GAGGAGGTGTGGGACAAGGTG	0.507													36	387					0	0	0	0	C	24464335	G	C	24464335	3	2	443	1	0	0	0	0	1	0	0	0	4531	1357	47	4	411	4	DHRS4L2	14	24464335	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	423989	24464335	82885205	392	87053											
PRKD1	5587	broad.mit.edu	37	chr14	30132910	30132910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaagccataccagaaGgggctcatcaggggcacttg	13	5	13	10	0	2	1	2	0	0	1	2	2	2	2	2	5	3	2	2	5	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:30132910G>A	ENST00000331968.5	-	4	920	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	PRKD1_ENST00000415220.2_Missense_Mutation_p.L231F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	231					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATACCAGAAGGGGCTCATCA	0.532													23	99					0	0	0	0	A	30132910	G	A	30132910	3	1	443	1	0	0	0	0	1	0	0	0	12598	1000	35	4	2107	4	PRKD1	14	30132910	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5668575	30132910	77216630	393	87054											
FBXO34	55030	broad.mit.edu	37	chr14	55818712	55818712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagccatttgtactgccagCctcttctgtggaaagtacat	9	13	9	10	0	2	1	0	1	2	0	2	2	2	2	3	1	5	2	3	1	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:55818712C>T	ENST00000313833.4	+	2	1849	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	FBXO34_ENST00000440021.1_Missense_Mutation_p.A535V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	535										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GTACTGCCAGCCTCTTCTGTG	0.502													61	95					0	0	0	0	T	55818712	C	T	55818712	3	4	443	1	0	0	0	0	1	0	0	0	5789	739	26	4	1606	4	FBXO34	14	55818712	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	25685802	55818712	51530828	394	87055											
SYNE2	23224	broad.mit.edu	37	chr14	64416650	64416650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcctccagctaagaaatgCtctaaagtgcaagcaagatg	15	8	9	9	0	1	2	0	0	1	2	3	2	3	2	2	0	4	4	2	0	6	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:64416650C>T	ENST00000358025.3	+	7	746	c.516C>T	c.(514-516)tgC>tgT	p.C172C	SYNE2_ENST00000554584.1_Silent_p.C172C|SYNE2_ENST00000344113.4_Silent_p.C172C|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Silent_p.C172C|SYNE2_ENST00000341472.5_Silent_p.C172C	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	172	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAAGAAATGCTCTAAAGTGC	0.473													58	114					0	0	0	0	T	64416650	C	T	64416650	2	4	443	1	0	0	0	0	0	0	0	1	15537	805	28	4		4	SYNE2	14	64416650	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	8597938	64416650	42932890	395	87056											
SYNE2	23224	broad.mit.edu	37	chr14	64518682	64518682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggattttctgttttaaaggGgcaagctgaacttcagatga	11	14	11	5	0	2	3	1	2	1	1	2	4	2	4	0	3	2	3	0	3	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:64518682G>A	ENST00000358025.3	+	48	8281	c.8051G>A	c.(8050-8052)gGg>gAg	p.G2684E	SYNE2_ENST00000554584.1_Missense_Mutation_p.G2717E|SYNE2_ENST00000344113.4_Missense_Mutation_p.G2684E|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2684					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTTAAAGGGGCAAGCTGAA	0.428													46	74					0	0	0	0	A	64518682	G	A	64518682	3	1	443	1	0	0	0	0	1	0	0	0	15537	1232	43	4	8237	4	SYNE2	14	64518682	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	102032	64518682	42830858	396	87057											
PLEKHH1	57475	broad.mit.edu	37	chr14	68029195	68029195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgtagttcagcttcctggGgtgagggtctggttactgct	5	14	15	7	0	2	1	1	1	1	0	3	2	3	1	1	4	3	5	1	4	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:68029195G>C	ENST00000329153.5	+	7	979	c.847G>C	c.(847-849)Ggt>Cgt	p.G283R		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	283						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGCTTCCTGGGGTGAGGGTCT	0.572													6	31					0	0	0	0	C	68029195	G	C	68029195	3	2	443	1	0	0	0	0	1	0	0	0	12148	1232	43	4	869	4	PLEKHH1	14	68029195	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3510513	68029195	39320345	397	87058											
SIPA1L1	26037	broad.mit.edu	37	chr14	72137877	72137877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgccttcctttgggcCtcccattcctaaaggggtca	7	12	10	12	0	1	1	1	0	0	1	4	1	4	1	5	3	1	0	5	3	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:72137877C>G	ENST00000555818.1	+	8	2645	c.2297C>G	c.(2296-2298)cCt>cGt	p.P766R	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P766R|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P766R|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P241R	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	766	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCTTTGGGCCTCCCATTCCT	0.458													6	231					0	0	0	0	G	72137877	C	G	72137877	3	3	443	1	0	0	0	0	1	0	0	0	14417	681	24	4	2323	4	SIPA1L1	14	72137877	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4108682	72137877	35211663	398	87059											
ENTPD5	957	broad.mit.edu	37	chr14	74454625	74454625	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgtaaacatgaattcGagttccagtgctccctgcat	12	11	9	9	1	0	1	0	1	0	0	3	2	2	1	2	1	3	4	2	1	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:74454625G>T	ENST00000334696.6	-	4	500	c.181C>A	c.(181-183)Cga>Aga	p.R61R	ENTPD5_ENST00000557325.1_Silent_p.R61R|ENTPD5_ENST00000556242.1_Silent_p.R61R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	61					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		ACATGAATTCGAGTTCCAGTG	0.463													3	24					0.004672	0.00479388	1	0	T	74454625	G	T	74454625	2	4	443	1	0	0	0	0	0	0	0	1	5180	1066	37	3		3	ENTPD5	14	74454625	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2316748	74454625	32894915	399	87060											
ZC3H14	79882	broad.mit.edu	37	chr14	89069315	89069315	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtaaaccaaactgcagcctCaaacaagggactcagaggtc	15	5	9	12	1	2	1	2	0	0	1	3	2	2	2	2	2	5	2	2	2	5	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:89069315C>G	ENST00000251038.5	+	12	1883	c.1658C>G	c.(1657-1659)tCa>tGa	p.S553*	ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555900.1_Nonsense_Mutation_p.S255*|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.S553*|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.S528*|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	553						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACTGCAGCCTCAAACAAGGGA	0.527													7	55					0	0	0	0	G	89069315	C	G	89069315	4	3	443	1	0	0	0	0	0	1	0	0	17661	838	29	2	2093	2	ZC3H14	14	89069315	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	14614690	89069315	18280225	400	87061											
KCNK13	56659	broad.mit.edu	37	chr14	90651011	90651011	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggaaaatggacagcggGtgctgcccgcaatgccagag	11	5	15	10	2	0	2	0	1	0	1	0	4	0	4	2	3	4	2	2	3	3	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:90651011G>C	ENST00000282146.4	+	2	1332	c.891G>C	c.(889-891)ggG>ggC	p.G297G		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G297G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGGACAGCGGGTGCTGCCCGC	0.537													19	83					0	0	0	0	C	90651011	G	C	90651011	2	2	443	1	0	0	0	0	0	0	0	1	8114	1248	44	4		4	KCNK13	14	90651011	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1581696	90651011	16698529	401	87062											
BTBD7	55727	broad.mit.edu	37	chr14	93723574	93723574	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcactgtttataggtaaGatgtgttcaattcgcacaaa	13	14	7	7	1	2	1	2	0	0	1	3	1	2	1	0	1	0	4	0	1	5	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:93723574G>C	ENST00000334746.5	-	6	1882	c.1575C>G	c.(1573-1575)atC>atG	p.I525M	BTBD7_ENST00000554565.1_Missense_Mutation_p.I174M|BTBD7_ENST00000393170.2_Missense_Mutation_p.I99M	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	525										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTATAGGTAAGATGTGTTCAA	0.368													17	59					0	0	0	0	C	93723574	G	C	93723574	3	2	443	1	0	0	0	0	1	0	0	0	1555	932	33	2	1847	2	BTBD7	14	93723574	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3072563	93723574	13625966	402	87063											
SERPINA10	51156	broad.mit.edu	37	chr14	94756658	94756658	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttgccatcgtgcctcatGgagatctttcgcagcaggct	7	12	11	11	2	2	1	1	0	1	1	4	2	2	1	2	2	3	4	2	2	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:94756658G>C	ENST00000554723.1	-	2	811	c.393C>G	c.(391-393)tcC>tcG	p.S131S	SERPINA10_ENST00000261994.4_Silent_p.S91S|SERPINA10_ENST00000393096.1_Silent_p.S91S|SERPINA10_ENST00000554173.1_Silent_p.S91S			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	91					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CGTGCCTCATGGAGATCTTTC	0.557													9	27					0	0	0	0	C	94756658	G	C	94756658	2	2	443	1	0	0	0	0	0	0	0	1	14174	1335	47	4		4	SERPINA10	14	94756658	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1033084	94756658	12592882	403	87064											
WDR25	79446	broad.mit.edu	37	chr14	100847552	100847552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccagccagaggctacaGtggcccgggaaggagcctca	9	4	14	14	1	1	1	1	0	0	1	1	3	1	3	5	4	4	1	5	4	2	1	rs139361032		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:100847552G>C	ENST00000335290.6	+	2	517	c.291G>C	c.(289-291)caG>caC	p.Q97H	WDR25_ENST00000554175.1_Missense_Mutation_p.97_97insH|WDR25_ENST00000402312.3_Missense_Mutation_p.Q97H|WDR25_ENST00000554998.1_Missense_Mutation_p.Q97H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	97										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AGAGGCTACAGTGGCCCGGGA	0.592													11	65					0	0	0	0	C	100847552	G	C	100847552	3	2	443	1	0	0	0	0	1	0	0	0	17378	1020	36	4	293	4	WDR25	14	100847552	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6090894	100847552	6501988	404	87065											
CDC42BPB	9578	broad.mit.edu	37	chr14	103410270	103410270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgagctcctgcgcgcGtgccctccggccttgcgggt	3	8	13	17	5	0	1	0	1	0	0	2	1	2	1	5	2	4	1	5	2	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:103410270G>C	ENST00000361246.2	-	30	4654	c.4366C>G	c.(4366-4368)Cgc>Ggc	p.R1456G		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1456	CNH.				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			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)		TCCTGCGCGCGTGCCCTCCGG	0.567													4	33					0	0	0	0	C	103410270	G	C	103410270	3	2	443	1	0	0	0	0	1	0	0	0	3102	1145	40	3	801	3	CDC42BPB	14	103410270	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2562718	103410270	3939270	405	87066											
AHNAK2	113146	broad.mit.edu	37	chr14	105416749	105416749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcggctcagacacatccaccGaggcctcgatggacttgcct	8	8	10	15	3	1	1	1	0	0	1	4	4	2	2	4	3	1	1	4	3	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:105416749G>C	ENST00000333244.5	-	7	5158	c.5039C>G	c.(5038-5040)tCg>tGg	p.S1680W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1680						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCACCGAGGCCTCGAT	0.587													18	343					0	0	0	0	C	105416749	G	C	105416749	3	2	443	1	0	0	0	0	1	0	0	0	415	1059	37	3	12352	3	AHNAK2	14	105416749	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2006479	105416749	1932791	406	87067											
RYR3	6263	broad.mit.edu	37	chr15	33990092	33990092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttatcctagagacataatGaacaacaaggtgttttacca	15	11	6	9	0	0	2	0	1	0	1	1	3	1	2	3	1	3	1	3	1	7	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:33990092G>A	ENST00000389232.4	+	40	6214	c.6144G>A	c.(6142-6144)atG>atA	p.M2048I	RYR3_ENST00000415757.3_Missense_Mutation_p.M2048I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2048	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGACATAATGAACAACAAGG	0.458													41	50					0	0	0	0	A	33990092	G	A	33990092	3	1	443	1	0	0	0	0	1	0	0	0	13855	1290	45	2	6302	2	RYR3	15	33990092	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		33990092	68541300	407	87068											
TMCO5A	145942	broad.mit.edu	37	chr15	38229119	38229119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggagaaccgcaccaCgatggaaagggaaagagcct	16	2	15	8	2	0	3	0	0	0	3	0	8	0	5	3	4	2	1	3	4	4	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:38229119C>T	ENST00000558158.1	+	4	366	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMCO5A_ENST00000319669.4_Missense_Mutation_p.T71M|TMCO5A_ENST00000540944.1_Missense_Mutation_p.T71M|TMCO5A_ENST00000559502.1_Missense_Mutation_p.T71M			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	71						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AACCGCACCACGATGGAAAGG	0.507													10	17					0	0	0	0	T	38229119	C	T	38229119	3	4	443	1	0	0	0	0	1	0	0	0	16093	536	19	1	218	1	TMCO5A	15	38229119	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4239027	38229119	64302273	408	87069											
RTF1	23168	broad.mit.edu	37	chr15	41750044	41750044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcaagaactgttcaatcGcatagagaagagggaggtgt	15	7	14	5	1	1	4	1	0	0	4	2	6	1	5	0	2	2	3	0	2	5	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:41750044G>C	ENST00000389629.4	+	4	644	c.632G>C	c.(631-633)cGc>cCc	p.R211P		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	211	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTGTTCAATCGCATAGAGAAG	0.502													10	80					0	0	0	0	C	41750044	G	C	41750044	3	2	443	1	0	0	0	0	1	0	0	0	13806	1087	38	3	646	3	RTF1	15	41750044	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3520925	41750044	60781348	409	87070											
DUOX1	53905	broad.mit.edu	37	chr15	45444587	45444587	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctctttcatgttctcctaCatcttgctcaccatgtgccg	6	16	5	14	1	5	0	2	0	3	0	7	0	5	0	3	0	3	2	3	0	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:45444587C>G	ENST00000321429.4	+	26	3704	c.3297C>G	c.(3295-3297)taC>taG	p.Y1099*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1099*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y745*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1099	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGTTCTCCTACATCTTGCTCA	0.592													15	54					0	0	0	0	G	45444587	C	G	45444587	4	3	443	1	0	0	0	0	0	1	0	0	4836	489	17	4	3391	4	DUOX1	15	45444587	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3694543	45444587	57086805	410	87071											
SEMA6D	80031	broad.mit.edu	37	chr15	48063436	48063436	+	Frame_Shift_Del	DEL	C	C	-																															ctgaatgacccaaatagtaaCcccaaagccatcatgggaga																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:48063436delC	ENST00000316364.5	+	19	3115	c.2676delC	c.(2674-2676)aafs	p.N892fs	SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.N873fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.N817fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.N849fs|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.N836fs|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.N892fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.N830fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	892					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAATAGTAACCCCAAAGCCA	0.488													12	102	---	---	---	---					-	48063436	C	-	48063436	7	5	443	1	0	1	0	1	0	0	0	0	14129	506	18	0	2789	0	SEMA6D	15	48063436	Frame_Shift_Del	DEL	C	TCGA-KU-A66S-01A-21D-A30E-08	2618849	48063436	54467956	411	87072											
SLTM	79811	broad.mit.edu	37	chr15	59181678	59181678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaattccttttttcttgttCataacgaagctgctgttgtt	7	19	8	7	1	2	0	1	0	1	0	3	2	3	1	1	1	3	5	1	1	3	9			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:59181678C>G	ENST00000380516.2	-	16	2242	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	SLTM_ENST00000536328.1_Missense_Mutation_p.E288Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	719	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCTTGTTCATAACGAAGC	0.408													15	48					0	0	0	0	G	59181678	C	G	59181678	3	3	443	1	0	0	0	0	1	0	0	0	14842	835	29	2	973	2	SLTM	15	59181678	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	11118242	59181678	43349714	412	87073											
SPG21	51324	broad.mit.edu	37	chr15	65262485	65262485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcaatggcatcagccatCatagggtccaccgggccaga	13	6	10	12	1	3	1	3	0	0	1	4	1	4	1	4	3	1	1	4	3	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:65262485C>T	ENST00000559199.1	-	4	1066	c.66G>A	c.(64-66)atG>atA	p.M22I	SPG21_ENST00000416889.2_Missense_Mutation_p.M149I|SPG21_ENST00000433215.2_Missense_Mutation_p.M176I|SPG21_ENST00000204566.2_Missense_Mutation_p.M176I			Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	176					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CATCAGCCATCATAGGGTCCA	0.408													116	224					0	0	0	0	T	65262485	C	T	65262485	3	4	443	1	0	0	0	0	1	0	0	0	15133	826	29	2	414	2	SPG21	15	65262485	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6080807	65262485	37268907	413	87074											
LRRC49	54839	broad.mit.edu	37	chr15	71341771	71341771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaggaaaagaagaaattCtgtaaaacatatatagaaga	24	8	7	2	0	1	4	0	0	1	4	1	5	1	5	0	1	1	1	0	1	12	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:71341771C>G	ENST00000260382.5	+	16	2141	c.1881C>G	c.(1879-1881)ttC>ttG	p.F627L	LRRC49_ENST00000443425.2_Missense_Mutation_p.F583L|LRRC49_ENST00000560369.1_Missense_Mutation_p.F632L|LRRC49_ENST00000560158.2_Missense_Mutation_p.F315L|LRRC49_ENST00000560691.1_Missense_Mutation_p.F333L|LRRC49_ENST00000544974.2_Missense_Mutation_p.F617L|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	627						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGAAGAAATTCTGTAAAACAT	0.333													3	48					0	0	0	0	G	71341771	C	G	71341771	3	3	443	1	0	0	0	0	1	0	0	0	9070	912	32	2	1943	2	LRRC49	15	71341771	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	6079286	71341771	31189621	414	87075											
LRRC49	54839	broad.mit.edu	37	chr15	71341938	71341938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcctacagcagataaCagaccaaaaataaaaatggc	18	6	7	10	0	1	2	0	0	1	2	1	2	1	2	2	1	4	2	2	1	7	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:71341938C>G	ENST00000260382.5	+	16	2308	c.2048C>G	c.(2047-2049)aCa>aGa	p.T683R	LRRC49_ENST00000443425.2_Missense_Mutation_p.T639R|LRRC49_ENST00000560369.1_Missense_Mutation_p.T688R|LRRC49_ENST00000560158.2_Missense_Mutation_p.T371R|LRRC49_ENST00000560691.1_Missense_Mutation_p.T389R|LRRC49_ENST00000544974.2_Missense_Mutation_p.T673R|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	683						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CAGCAGATAACAGACCAAAAA	0.343													13	76					0	0	0	0	G	71341938	C	G	71341938	3	3	443	1	0	0	0	0	1	0	0	0	9070	478	17	4	2110	4	LRRC49	15	71341938	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	167	71341938	31189454	415	87076											
BBS4	585	broad.mit.edu	37	chr15	73029293	73029293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcagctgcatacaggaCgctcccctcaggtaggacca	10	7	10	14	1	2	0	2	0	0	0	3	2	3	2	3	3	4	5	3	3	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:73029293C>G	ENST00000268057.4	+	15	1480	c.1439C>G	c.(1438-1440)aCg>aGg	p.T480R	BBS4_ENST00000395205.2_Missense_Mutation_p.T488R|BBS4_ENST00000542334.1_Missense_Mutation_p.T308R|BBS4_ENST00000539603.1_Missense_Mutation_p.T468R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	480	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GCATACAGGACGCTCCCCTCA	0.522									Bardet-Biedl syndrome				17	165					0	0	0	0	G	73029293	C	G	73029293	3	3	443	1	0	0	0	0	1	0	0	0	1343	536	19	3	1497	3	BBS4	15	73029293	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1687355	73029293	29502099	416	87077											
CYP1A1	1543	broad.mit.edu	37	chr15	75013017	75013029	+	Frame_Shift_Del	DEL	CCAAAGATAATCA	CCAAAGATAATCA	-																															tacacttccgcttgcccatgCcaaagataatcaccttctca																								rs72547509		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:75013017_75013029delCCAAAGATAATCA	ENST00000379727.3	-	7	1538_1550	c.1340_1352delTGATTATCTTTGG	c.(1339-1353)gcfs	p.VIIFG447fs	CYP1A1_ENST00000395048.2_Frame_Shift_Del_p.VIIFG447fs|CYP1A1_ENST00000567032.1_Frame_Shift_Del_p.VIIFG447fs|CYP1A1_ENST00000395049.4_Frame_Shift_Del_p.VIIFG418fs			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	447					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CTTGCCCATGCCAAAGATAATCACCTTCTCACT	0.531									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				23	116	---	---	---	---					-	75013029	CCAAAGATAATCA	-	75013017	7	5	443	1	0	1	0	1	0	0	0	0	4181	739	26	0	190	0	CYP1A1	15	75013017	Frame_Shift_Del	DEL	CCAAAGATAATCA	TCGA-KU-A66S-01A-21D-A30E-08	1983724	75013017	27518375	417	87078											
CSPG4	1464	broad.mit.edu	37	chr15	75979935	75979935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcatccccactgcggatGtcgaggttggtgtccaggtg	6	10	13	12	2	1	0	1	0	0	0	4	2	3	1	4	4	1	1	4	4	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:75979935G>C	ENST00000308508.5	-	3	3563	c.3471C>G	c.(3469-3471)gaC>gaG	p.D1157E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1157	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACTGCGGATGTCGAGGTTGG	0.657													5	116					0	0	0	0	C	75979935	G	C	75979935	3	2	443	1	0	0	0	0	1	0	0	0	3992	1368	48	4	3529	4	CSPG4	15	75979935	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	966918	75979935	26551457	418	87079											
CPEB1	64506	broad.mit.edu	37	chr15	83296034	83296034	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatatggcatttatccttcGaaagatattggcattactac	13	14	6	8	1	0	1	0	0	0	1	2	2	1	1	1	2	2	2	1	2	7	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:83296034G>A	ENST00000563800.1	-	2	1906	c.181C>T	c.(181-183)Cga>Tga	p.R61*	CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.R34*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.R34*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	34					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTATCCTTCGAAAGATATTG	0.413													37	38					0	0	0	0	A	83296034	G	A	83296034	4	1	443	1	0	0	0	0	0	1	0	0	3830	1066	37	1	1644	1	CPEB1	15	83296034	Nonsense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	7316099	83296034	19235358	419	87080											
WDR73	84942	broad.mit.edu	37	chr15	85188753	85188753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaagtcactcgcagcaGctctgggtcagggctaggta	8	7	14	12	1	3	0	2	0	1	0	4	0	3	0	1	4	2	5	1	4	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:85188753G>A	ENST00000434634.2	-	7	892	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	278										cervix(1)|large_intestine(1)|lung(1)	3						ACTCGCAGCAGCTCTGGGTCA	0.562													6	11					0	0	0	0	A	85188753	G	A	85188753	2	1	443	1	0	0	0	0	0	0	0	1	17419	962	34	4		4	WDR73	15	85188753	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1892719	85188753	17342639	420	87081											
AKAP13	11214	broad.mit.edu	37	chr15	86123873	86123873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgcagagcttcagcaCgggatggggaataccagtct	10	8	13	10	1	2	1	1	0	1	1	2	3	2	3	1	3	5	4	1	3	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:86123873C>G	ENST00000394518.2	+	7	2669	c.2574C>G	c.(2572-2574)caC>caG	p.H858Q	AKAP13_ENST00000361243.2_Missense_Mutation_p.H858Q	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	858					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.E855_G859>G(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCTTCAGCACGGGATGGGGA	0.562													15	94					0	0	0	0	G	86123873	C	G	86123873	3	3	443	1	0	0	0	0	1	0	0	0	449	535	19	3	2596	3	AKAP13	15	86123873	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	935120	86123873	16407519	421	87082											
ACAN	176	broad.mit.edu	37	chr15	89398750	89398750	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcagtgggcttccttcTggagaagttctagagaccac	9	10	11	11	0	3	2	1	0	2	2	4	5	4	2	3	2	0	2	3	2	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:89398750T>A	ENST00000439576.2	+	12	3308	c.2934T>A	c.(2932-2934)tcT>tcA	p.S978S	ACAN_ENST00000559004.1_Silent_p.S978S|ACAN_ENST00000352105.7_Silent_p.S978S|ACAN_ENST00000561243.1_Silent_p.S978S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	978					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTTCCTTCTGGAGAAGTTC	0.552													84	163					0	0	0	0	A	89398750	T	A	89398750	2	1	443	1	0	0	0	0	0	0	0	1	117	1567	55	5		5	ACAN	15	89398750	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	3274877	89398750	13132642	422	87083											
IQGAP1	8826	broad.mit.edu	37	chr15	91021017	91021017	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagatcttggccccagtCgtgaaggaaattatggatga	13	9	12	7	1	1	4	0	2	1	2	2	6	1	6	2	3	0	0	2	3	3	2	rs138378081	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:91021017C>A	ENST00000268182.5	+	26	3349	c.3225C>A	c.(3223-3225)gtC>gtA	p.V1075V	IQGAP1_ENST00000560738.1_Silent_p.V503V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1075	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGGCCCCAGTCGTGAAGGAAA	0.443													46	66					1.7489e-18	2.09869e-18	1	0	A	91021017	C	A	91021017	2	1	443	1	0	0	0	0	0	0	0	1	7867	871	31	3		3	IQGAP1	15	91021017	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1622267	91021017	11510375	423	87084											
PKD1	5310	broad.mit.edu	37	chr16	2139988	2139988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcagggcctcgaacaCggcttggaggcgggagggct	7	5	20	9	3	0	1	0	1	0	0	1	4	0	3	1	7	2	3	1	7	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:2139988C>G	ENST00000262304.4	-	46	12860	c.12652G>C	c.(12652-12654)Gtg>Ctg	p.V4218L	PKD1_ENST00000423118.1_Missense_Mutation_p.V4217L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4218					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCTCGAACACGGCTTGGAGG	0.672													4	19					0	0	0	0	G	2139988	C	G	2139988	3	3	443	1	0	0	0	0	1	0	0	0	12035	536	19	3	263	3	PKD1	16	2139988	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		2139988	88214765	424	87085											
TRAP1	10131	broad.mit.edu	37	chr16	3727627	3727627	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgatcttgctgctggcCtcagcctggttctgcagagc	5	11	12	13	1	3	2	1	1	2	1	3	3	3	2	3	2	5	4	3	2	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:3727627C>A	ENST00000575671.1	-	0	678				TRAP1_ENST00000246957.5_Missense_Mutation_p.E192D|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.E139D			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1						cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TGCTGCTGGCCTCAGCCTGGT	0.612													10	62					4.68919e-08	5.16321e-08	1	0	A	3727627	C	A	3727627	1	1	443	1	0	0	0	0	0	0	0	0	16550	680	24	4		4	TRAP1	16	3727627	Translation_Start_Site	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1587639	3727627	86627126	425	87086											
XYLT1	64131	broad.mit.edu	37	chr16	17353124	17353124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcacctcaccggggcCtttcccagggaatgtatgtc	8	8	12	13	1	1	0	1	0	0	0	3	1	2	1	4	4	1	3	4	4	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:17353124C>T	ENST00000261381.6	-	3	718	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	212					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACCGGGGCCTTTCCCAGGG	0.587													32	155					0	0	0	0	T	17353124	C	T	17353124	3	4	443	1	0	0	0	0	1	0	0	0	17559	681	24	4	2285	4	XYLT1	16	17353124	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	13625497	17353124	73001629	426	87087											
SMG1	23049	broad.mit.edu	37	chr16	18856866	18856866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaccatttttcatgaGgtgtttctgcaggagccgct	8	13	10	10	1	2	2	1	2	1	0	2	3	2	3	3	2	3	3	3	2	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:18856866G>C	ENST00000446231.2	-	39	6516	c.6104C>G	c.(6103-6105)cCt>cGt	p.P2035R	SMG1_ENST00000389467.3_Missense_Mutation_p.P2035R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2035					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTTTCATGAGGTGTTTCTGC	0.458													5	65					0	0	0	0	C	18856866	G	C	18856866	3	2	443	1	0	0	0	0	1	0	0	0	14883	1000	35	4	4981	4	SMG1	16	18856866	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1503742	18856866	71497887	427	87088											
EEF2K	29904	broad.mit.edu	37	chr16	22268648	22268648	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccagggagttggggatctCtacactgacccacagatcca	11	8	10	12	0	1	2	0	1	1	1	4	4	3	4	3	3	1	1	3	3	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:22268648C>G	ENST00000263026.5	+	8	1317	c.843C>G	c.(841-843)ctC>ctG	p.L281L		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	281	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTGGGGATCTCTACACTGACC	0.562													9	125					0	0	0	0	G	22268648	C	G	22268648	2	3	443	1	0	0	0	0	0	0	0	1	4966	900	32	2		2	EEF2K	16	22268648	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3411782	22268648	68086105	428	87089											
EARS2	124454	broad.mit.edu	37	chr16	23536649	23536649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttctgatagcttcttcagTtctccattcagcatatcctg	7	16	5	13	0	5	1	2	1	3	0	7	1	6	1	3	0	2	3	3	0	2	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:23536649T>A	ENST00000449606.1	-	8	1435	c.1404A>T	c.(1402-1404)gaA>gaT	p.E468D	EARS2_ENST00000563232.1_Missense_Mutation_p.E468D|EARS2_ENST00000563459.1_Missense_Mutation_p.E468D|EARS2_ENST00000564501.1_Missense_Mutation_p.E468D|EARS2_ENST00000564987.1_5'UTR	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	468					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GCTTCTTCAGTTCTCCATTCA	0.498													29	46					0	0	0	0	A	23536649	T	A	23536649	3	1	443	1	0	0	0	0	1	0	0	0	4914	1722	60	5	175	5	EARS2	16	23536649	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	1268001	23536649	66818104	429	87090											
IL4R	3566	broad.mit.edu	37	chr16	27363900	27363900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctagaaccctccctcCgcatcgcagccagcaccctg	8	6	6	21	2	0	1	0	0	0	1	3	1	2	1	7	0	4	3	7	0	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:27363900C>T	ENST00000395762.2	+	7	812	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	IL4R_ENST00000380922.3_Missense_Mutation_p.R170C|IL4R_ENST00000449195.1_Missense_Mutation_p.R185C|IL4R_ENST00000170630.2_Missense_Mutation_p.R185C|IL4R_ENST00000543915.2_Missense_Mutation_p.R185C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	185	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ACCCTCCCTCCGCATCGCAGC	0.602													21	107					0	0	0	0	T	27363900	C	T	27363900	3	4	443	1	0	0	0	0	1	0	0	0	7751	652	23	1	571	1	IL4R	16	27363900	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3827251	27363900	62990853	430	87091											
SRCAP	10847	broad.mit.edu	37	chr16	30749037	30749037	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgcccaggcattggCatctccagagtccctggagc	6	9	13	13	0	1	1	0	0	1	1	3	2	2	2	3	3	2	3	3	3	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:30749037C>G	ENST00000262518.4	+	34	8061	c.7676C>G	c.(7675-7677)gCa>gGa	p.A2559G	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2497G|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2401G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2559	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGCATTGGCATCTCCAGAG	0.562													4	83					0	0	0	0	G	30749037	C	G	30749037	3	3	443	1	0	0	0	0	1	0	0	0	15225	710	25	4	7802	4	SRCAP	16	30749037	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3385137	30749037	59605716	431	87092											
STX4	6810	broad.mit.edu	37	chr16	31046317	31046317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccagaaggaggaagctGatgagaactataactccgtc	14	6	11	10	1	0	3	0	2	0	2	2	6	1	5	3	2	4	1	3	2	5	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31046317G>T	ENST00000394998.1	+	6	671	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	STX4_ENST00000313843.3_Missense_Mutation_p.D112Y|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	112					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGAGGAAGCTGATGAGAACTA	0.393													21	107					4.26978e-12	4.85233e-12	1	0	T	31046317	G	T	31046317	3	4	443	1	0	0	0	0	1	0	0	0	15437	1290	45	2	352	2	STX4	16	31046317	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	297280	31046317	59308436	432	87093											
ZNF668	79759	broad.mit.edu	37	chr16	31075521	31075521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggccttggggcatagcGgacacgcatagggcctaggc	8	7	16	10	2	0	0	0	0	0	0	0	1	0	1	2	6	1	3	2	6	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31075521G>C	ENST00000538906.1	-	2	1044	c.260C>G	c.(259-261)cCg>cGg	p.P87R	ZNF668_ENST00000394983.2_Missense_Mutation_p.P87R|ZNF668_ENST00000426488.2_Missense_Mutation_p.P110R|ZNF668_ENST00000539836.3_Missense_Mutation_p.P110R|ZNF668_ENST00000535577.1_Missense_Mutation_p.P87R|ZNF668_ENST00000300849.4_Missense_Mutation_p.P87R	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGGGCATAGCGGACACGCATA	0.677													8	68					0	0	0	0	C	31075521	G	C	31075521	3	2	443	1	0	0	0	0	1	0	0	0	18170	1116	39	3	1607	3	ZNF668	16	31075521	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	29204	31075521	59279232	433	87094											
FUS	2521	broad.mit.edu	37	chr16	31202320	31202320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgatcgtcgtggtggcagagGaggctatgatcgaggcggct	7	9	18	7	4	0	3	0	2	0	1	3	5	0	4	0	6	0	3	0	6	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31202320G>C	ENST00000254108.7	+	14	1535	c.1430G>C	c.(1429-1431)gGa>gCa	p.G477A	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.G478A|FUS_ENST00000380244.3_Missense_Mutation_p.G476A	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	477	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GGTGGCAGAGGAGGCTATGAT	0.632			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								18	115					0	0	0	0	C	31202320	G	C	31202320	3	2	443	1	0	0	0	0	1	0	0	0	6148	1174	41	2	1484	2	FUS	16	31202320	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	126799	31202320	59152433	434	87095											
CCDC135	84229	broad.mit.edu	37	chr16	57760127	57760127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccaagcgcgagttcctgCggcgcaccgaggtggacagc	7	5	14	15	5	0	0	0	0	0	0	2	3	2	1	4	3	3	2	4	3	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:57760127C>G	ENST00000360716.3	+	14	2127	c.1906C>G	c.(1906-1908)Cgg>Ggg	p.R636G	CCDC135_ENST00000394337.4_Missense_Mutation_p.R636G|CCDC135_ENST00000336825.8_Missense_Mutation_p.R571G			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	636						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGAGTTCCTGCGGCGCACCGA	0.662													5	105					0	0	0	0	G	57760127	C	G	57760127	3	3	443	1	0	0	0	0	1	0	0	0	2794	759	27	3	1952	3	CCDC135	16	57760127	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	26557807	57760127	32594626	435	87096											
KIFC3	3801	broad.mit.edu	37	chr16	57803506	57803506	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacccactgccctcgctcaCctcggccttgacactcctga	6	8	6	21	2	1	2	1	2	0	0	4	2	2	2	6	1	1	1	6	1	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:57803506C>G	ENST00000379655.4	-	9	1476		c.e9+1		KIFC3_ENST00000465878.2_Splice_Site|KIFC3_ENST00000540079.2_Splice_Site|KIFC3_ENST00000539578.1_Splice_Site|KIFC3_ENST00000543930.1_Splice_Site|KIFC3_ENST00000541240.1_Splice_Site|KIFC3_ENST00000562903.1_Splice_Site|KIFC3_ENST00000445690.2_Splice_Site|KIFC3_ENST00000421376.2_Splice_Site	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						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			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)				CCCTCGCTCACCTCGGCCTTG	0.657													18	48					0	0	0	0	G	57803506	C	G	57803506	5	3	443	1	0	0	0	0	0	0	1	0	8365	521	18	4	1335	4	KIFC3	16	57803506	Splice_Site	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	43379	57803506	32551247	436	87097											
CHST5	23563	broad.mit.edu	37	chr16	75563731	75563731	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtaggagcggcaggcctcCcgggccaggctgaatggctg	6	6	17	12	2	0	1	0	1	0	0	1	2	1	2	3	6	1	4	3	6	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:75563731C>G	ENST00000336257.3	-	3	1946	c.552G>C	c.(550-552)cgG>cgC	p.R184R	CHST5_ENST00000541075.1_Silent_p.R190R|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	184					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCAGGCCTCCCGGGCCAGGC	0.667													5	226					0	0	0	0	G	75563731	C	G	75563731	2	3	443	1	0	0	0	0	0	0	0	1	3436	610	22	4		4	CHST5	16	75563731	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	17760225	75563731	14791022	437	87098											
ATMIN	23300	broad.mit.edu	37	chr16	81077118	81077118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcagggctctgccacaGgggctgtgcacttaatgccc	7	10	12	12	0	2	1	1	1	1	0	2	1	2	1	2	3	3	3	2	3	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:81077118G>C	ENST00000566488.1	+	3	1510	c.547G>C	c.(547-549)Ggg>Cgg	p.G183R	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.G339R|ATMIN_ENST00000564241.1_Missense_Mutation_p.G183R			O43313	ATMIN_HUMAN	ATM interactor	339					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTCTGCCACAGGGGCTGTGCA	0.527													7	74					0	0	0	0	C	81077118	G	C	81077118	3	2	443	1	0	0	0	0	1	0	0	0	1114	1000	35	4	1029	4	ATMIN	16	81077118	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5513387	81077118	9277635	438	87099											
HSDL1	83693	broad.mit.edu	37	chr16	84163701	84163701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcccggtaacacaacatGgaccatcaaactagcggcgg	13	6	9	13	3	1	0	1	0	0	0	2	1	2	1	2	4	4	1	2	4	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:84163701G>C	ENST00000219439.4	-	4	732	c.556C>G	c.(556-558)Cat>Gat	p.H186D	HSDL1_ENST00000434463.3_Missense_Mutation_p.H131D	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	186						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AACACAACATGGACCATCAAA	0.512													7	117					0	0	0	0	C	84163701	G	C	84163701	3	2	443	1	0	0	0	0	1	0	0	0	7443	1348	47	4	448	4	HSDL1	16	84163701	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3086583	84163701	6191052	439	87100											
RPH3AL	9501	broad.mit.edu	37	chr17	96936	96936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtgtagatgcggctggtCtcagagcttctgggctctcg	5	11	14	11	3	3	2	1	0	3	2	5	2	3	2	0	3	2	4	0	3	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:96936C>G	ENST00000323434.8	-	6	1089	c.492G>C	c.(490-492)gaG>gaC	p.E164D	RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000536489.2_Missense_Mutation_p.E164D|RPH3AL_ENST00000331302.7_Missense_Mutation_p.E193D	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	193					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGCGGCTGGTCTCAGAGCTTC	0.607													13	84					0	0	0	0	G	96936	C	G	96936	3	3	443	1	0	0	0	0	1	0	0	0	13637	912	32	2	384	2	RPH3AL	17	96936	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		96936	81098274	440	87101											
MYO1C	4641	broad.mit.edu	37	chr17	1375249	1375249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataggcaaagccggctctgCgcacgcgcaggttttccaac	9	7	12	13	4	1	0	0	0	1	0	2	1	2	0	2	3	3	5	2	3	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:1375249C>G	ENST00000359786.5	-	19	2297	c.1973G>C	c.(1972-1974)cGc>cCc	p.R658P	MYO1C_ENST00000361007.2_Missense_Mutation_p.R623P|MYO1C_ENST00000575158.1_Missense_Mutation_p.R623P|MYO1C_ENST00000438665.2_Missense_Mutation_p.R639P|MYO1C_ENST00000545534.2_Missense_Mutation_p.R634P	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	658	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCGGCTCTGCGCACGCGCAG	0.657													8	133					0	0	0	0	G	1375249	C	G	1375249	3	3	443	1	0	0	0	0	1	0	0	0	10140	768	27	3	1274	3	MYO1C	17	1375249	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1278313	1375249	79819961	441	87102											
PRPF8	10594	broad.mit.edu	37	chr17	1585124	1585124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tatcactcacttcctgctgtCcctcaacggctggtggtcat	6	13	8	14	1	4	0	4	0	0	0	6	0	6	0	2	3	2	2	2	3	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:1585124C>G	ENST00000572621.1	-	4	908	c.643G>C	c.(643-645)Gac>Cac	p.D215H	PRPF8_ENST00000304992.6_Missense_Mutation_p.D215H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	215						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCCTGCTGTCCCTCAACGGC	0.537													5	136					0	0	0	0	G	1585124	C	G	1585124	3	3	443	1	0	0	0	0	1	0	0	0	12655	855	30	2	6520	2	PRPF8	17	1585124	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	209875	1585124	79610086	442	87103											
TAX1BP3	30851	broad.mit.edu	37	chr17	3568025	3568025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggaaggatcctggtcgattCcacctccaatgctgaaaccc	10	8	10	13	1	0	1	0	1	0	0	4	4	3	3	5	3	2	1	5	3	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:3568025C>G	ENST00000225525.3	-	2	262	c.107G>C	c.(106-108)gGa>gCa	p.G36A	RP11-48B14.2_ENST00000550383.1_3'UTR	NM_014604.3	NP_055419.1	O14907	TX1B3_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 3	36	PDZ.				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding			endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		CTGGTCGATTCCACCTCCAAT	0.532													4	88					0	0	0	0	G	3568025	C	G	3568025	3	3	443	1	0	0	0	0	1	0	0	0	15686	855	30	2	279	2	TAX1BP3	17	3568025	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1982901	3568025	77627185	443	87104											
SPNS3	201305	broad.mit.edu	37	chr17	4342975	4342975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgctggatatacaggaGgttttccagatcagtgacaa	11	11	12	7	0	1	2	1	1	0	1	2	4	2	4	1	3	3	3	1	3	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:4342975G>C	ENST00000355530.2	+	2	502	c.222G>C	c.(220-222)gaG>gaC	p.E74D	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	74					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						ATATACAGGAGGTTTTCCAGA	0.587													4	9					0	0	0	0	C	4342975	G	C	4342975	3	2	443	1	0	0	0	0	1	0	0	0	15166	991	35	4	228	4	SPNS3	17	4342975	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	774950	4342975	76852235	444	87105											
MINK1	50488	broad.mit.edu	37	chr17	4797387	4797387	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaccatggtggtccagcGcgtgagtgagcctctgctcc	5	8	14	14	3	1	2	0	2	1	0	3	2	3	2	4	3	3	2	4	3	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:4797387G>A	ENST00000355280.6	+	22	2865	c.2670_splice	c.e22+1	p.R890_splice	MINK1_ENST00000347992.7_Splice_Site_p.R861_splice|MINK1_ENST00000453408.3_Splice_Site_p.R870_splice	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	890	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GTGGTCCAGCGCGTGAGTGAG	0.657													17	25					0	0	0	0	A	4797387	G	A	4797387	5	1	443	1	0	0	0	0	0	0	1	0	9656	1101	38	1	2522	1	MINK1	17	4797387	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	454412	4797387	76397823	445	87106											
ZNF232	7775	broad.mit.edu	37	chr17	5012344	5012344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtccatgtgcagggcctgGgacctggaggtgatcaggca	8	7	17	9	0	1	1	1	1	0	0	2	3	2	3	3	6	1	2	3	6	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5012344G>C	ENST00000250076.3	-	4	1156	c.502C>G	c.(502-504)Cca>Gca	p.P168A	ZNF232_ENST00000575898.1_Missense_Mutation_p.P168A|ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	141					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GCAGGGCCTGGGACCTGGAGG	0.537													23	85					0	0	0	0	C	5012344	G	C	5012344	3	2	443	1	0	0	0	0	1	0	0	0	17880	1232	43	4	840	4	ZNF232	17	5012344	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	214957	5012344	76182866	446	87107											
RABEP1	9135	broad.mit.edu	37	chr17	5276627	5276627	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggtgctgatgcagtcaCgggaacaggtttcagaagag	11	7	16	7	2	2	3	2	1	0	2	2	4	2	4	0	4	3	3	0	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5276627C>A	ENST00000262477.6	+	13	2127	c.1903C>A	c.(1903-1905)Cgg>Agg	p.R635R	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Silent_p.R635R|RABEP1_ENST00000537505.1_Silent_p.R592R|RABEP1_ENST00000408982.2_Silent_p.R635R|RABEP1_ENST00000341923.6_Silent_p.R635R	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	635					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GATGCAGTCACGGGAACAGGT	0.458													13	11					1.36491e-13	1.57387e-13	1	0	A	5276627	C	A	5276627	2	1	443	1	0	0	0	0	0	0	0	1	13043	527	19	3		3	RABEP1	17	5276627	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	264283	5276627	75918583	447	87108											
RPAIN	84268	broad.mit.edu	37	chr17	5329382	5329382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgggaggcaaacccactCatctgtcctgtatgtacaaa	12	9	10	10	0	2	0	1	0	1	0	3	2	3	1	2	2	2	3	2	2	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5329382C>T	ENST00000381209.3	+	4	975	c.405C>T	c.(403-405)ctC>ctT	p.L135L	RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000405578.4_Silent_p.L135L|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000381208.5_Silent_p.L135L|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Silent_p.L135L	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	135					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAAACCCACTCATCTGTCCTG	0.468													8	13					0	0	0	0	T	5329382	C	T	5329382	2	4	443	1	0	0	0	0	0	0	0	1	13625	813	29	2		2	RPAIN	17	5329382	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	52755	5329382	75865828	448	87109											
SLC16A13	201232	broad.mit.edu	37	chr17	6939846	6939846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcggcgtttgaggagcagGcagcgcgcgtctcctggatc	5	8	17	11	5	1	1	0	1	1	0	3	3	1	3	1	5	2	3	1	5	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:6939846G>T	ENST00000308027.6	+	1	453	c.145G>T	c.(145-147)Gca>Tca	p.A49S		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	49						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGAGGAGCAGGCAGCGCGCGT	0.632													29	50					2.14196e-07	2.3295e-07	1	0	T	6939846	G	T	6939846	3	4	443	1	0	0	0	0	1	0	0	0	14494	1203	42	4	147	4	SLC16A13	17	6939846	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1610464	6939846	74255364	449	87110											
ACADVL	37	broad.mit.edu	37	chr17	7125377	7125377	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggaaaatactataccctCaatggaagcaagctttggat	14	11	9	7	0	1	0	1	0	0	0	1	3	1	3	1	3	4	2	1	3	8	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7125377C>G	ENST00000356839.5	+	8	908	c.729C>G	c.(727-729)ctC>ctG	p.L243L	ACADVL_ENST00000350303.5_Silent_p.L221L|ACADVL_ENST00000543245.2_Silent_p.L266L	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	243	Catalytic.		L -> R (in ACADVLD).		energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ACTATACCCTCAATGGAAGCA	0.592													6	89					0	0	0	0	G	7125377	C	G	7125377	2	3	443	1	0	0	0	0	0	0	0	1	116	813	29	2		2	ACADVL	17	7125377	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	185531	7125377	74069833	450	87111											
POLR2A	5430	broad.mit.edu	37	chr17	7401407	7401407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcctagacttcaagaaCtagtgcgcagggggaacagc	11	8	11	11	1	1	2	1	0	0	2	3	3	3	3	2	2	4	1	2	2	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7401407C>G	ENST00000322644.6	+	8	1612	c.1213C>G	c.(1213-1215)Cta>Gta	p.L405V	POLR2A_ENST00000572844.1_Missense_Mutation_p.L405V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	405					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II 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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACTTCAAGAACTAGTGCGCAG	0.512													6	83					0	0	0	0	G	7401407	C	G	7401407	3	3	443	1	0	0	0	0	1	0	0	0	12286	564	20	4	1243	4	POLR2A	17	7401407	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	276030	7401407	73793803	451	87112											
ALOX15B	247	broad.mit.edu	37	chr17	7951880	7951880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgagaacagcgtctccatCtaaatcccaggggaacacag	14	6	9	12	2	2	1	0	0	2	1	5	3	3	2	2	2	3	0	2	2	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7951880C>G	ENST00000380183.4	+	14	2167	c.2028C>G	c.(2026-2028)atC>atG	p.I676M	ALOX15B_ENST00000572022.1_Missense_Mutation_p.I664M|ALOX15B_ENST00000573359.1_Missense_Mutation_p.I602M|ALOX15B_ENST00000380173.2_Missense_Mutation_p.I647M	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	676	Lipoxygenase.		I -> V (in dbSNP:rs7225107).		induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCGTCTCCATCTAAATCCCAG	0.577													4	57					0	0	0	0	G	7951880	C	G	7951880	3	3	443	1	0	0	0	0	1	0	0	0	539	903	32	2	2082	2	ALOX15B	17	7951880	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	550473	7951880	73243330	452	87113											
PIK3R5	23533	broad.mit.edu	37	chr17	8785008	8785008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctgtcaggtttagcGtcagggcctccatgctggaa	7	11	11	12	1	3	0	2	0	1	0	4	1	4	1	3	3	2	2	3	3	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:8785008G>T	ENST00000447110.1	-	17	2445	c.2321C>A	c.(2320-2322)aCg>aAg	p.T774K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.T773K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.T774K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	774					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGGTTTAGCGTCAGGGCCTC	0.572													7	13					0.0381472	0.0385832	1	0	T	8785008	G	T	8785008	3	4	443	1	0	0	0	0	1	0	0	0	11994	1145	40	3	333	3	PIK3R5	17	8785008	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	833128	8785008	72410202	453	87114											
GAS7	8522	broad.mit.edu	37	chr17	9846526	9846526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaacccagccacggtgcCgttgccttgggggtccttct	5	11	11	14	2	2	0	1	0	1	0	3	0	3	0	5	3	4	1	5	3	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:9846526C>A	ENST00000396115.1	-	7	773	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C	GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000542249.1_Missense_Mutation_p.G160C|GAS7_ENST00000432992.2_Missense_Mutation_p.G215C|GAS7_ENST00000323816.4_Missense_Mutation_p.G151C|GAS7_ENST00000580865.1_Missense_Mutation_p.G75C|GAS7_ENST00000585266.1_Missense_Mutation_p.G151C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.G151C|GAS7_ENST00000579158.1_Missense_Mutation_p.G167C	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	215					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.G215S(1)|p.G75S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCCACGGTGCCGTTGCCTTGG	0.527			T	MLL	AML*								56	89					3.21867e-24	3.977e-24	1	0	A	9846526	C	A	9846526	3	1	443	1	0	0	0	0	1	0	0	0	6299	652	23	3	819	3	GAS7	17	9846526	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1061518	9846526	71348684	454	87115											
MYH1	4619	broad.mit.edu	37	chr17	10409371	10409371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgcaccgcacaaagtGggggtgagtgctcctcaagt	10	8	14	9	1	1	2	1	2	0	0	2	3	2	2	2	2	2	3	2	2	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:10409371G>C	ENST00000226207.5	-	18	2108	c.2014C>G	c.(2014-2016)Cac>Gac	p.H672D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	672	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCACAAAGTGGGGGTGAGTG	0.413													43	77					0	0	0	0	C	10409371	G	C	10409371	3	2	443	1	0	0	0	0	1	0	0	0	10099	1348	47	4	3897	4	MYH1	17	10409371	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	562845	10409371	70785839	455	87116											
DNAH9	1770	broad.mit.edu	37	chr17	11738100	11738100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagatgaagaggagcagaAggtggccgtcatcatgctag	12	6	16	7	1	2	4	2	1	0	3	2	5	2	5	1	4	2	3	1	4	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:11738100A>T	ENST00000262442.3	+	49	9460	c.9392A>T	c.(9391-9393)aAg>aTg	p.K3131M	DNAH9_ENST00000454412.2_Missense_Mutation_p.K3131M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3131	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGAGCAGAAGGTGGCCGTC	0.527													13	17					0	0	0	0	T	11738100	A	T	11738100	3	4	443	1	0	0	0	0	1	0	0	0	4644	72	3	5	9586	5	DNAH9	17	11738100	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	1328729	11738100	69457110	456	87117											
POLDIP2	26073	broad.mit.edu	37	chr17	26677586	26677586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaacggatacagtagcGccactgaggtgggtgtggga	10	7	15	9	2	0	1	0	1	0	0	1	3	1	3	2	4	3	1	2	4	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:26677586G>A	ENST00000540200.1	-	10	786	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	264	ApaG.					mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ATACAGTAGCGCCACTGAGGT	0.483													6	51					0	0	0	0	A	26677586	G	A	26677586	3	1	443	1	0	0	0	0	1	0	0	0	12266	1087	38	1	328	1	POLDIP2	17	26677586	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	14939486	26677586	54517624	457	87118											
SSH2	85464	broad.mit.edu	37	chr17	28030080	28030080	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagaaagctctcgctgatGctacaaggaaaaagtcaaaa	17	8	9	7	1	2	2	1	1	1	1	3	3	2	3	0	1	3	4	0	1	8	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:28030080G>C	ENST00000269033.3	-	3	259	c.107_splice	c.e3-1	p.S36_splice	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.S63_splice|SSH2_ENST00000324677.7_5'UTR	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	36					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTCGCTGATGCTACAAGGAA	0.413													8	81					0	0	0	0	C	28030080	G	C	28030080	5	2	443	1	0	0	0	0	0	0	1	0	15275	1333	46	4	4215	4	SSH2	17	28030080	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1352494	28030080	53165130	458	87119											
ATAD5	79915	broad.mit.edu	37	chr17	29161400	29161400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaacaaagactgtacgacaCctttggaaatgttctcaaat	15	10	7	9	1	1	1	1	0	1	1	2	3	1	2	1	1	2	3	1	1	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29161400C>G	ENST00000321990.4	+	2	679	c.301C>G	c.(301-303)Cct>Gct	p.P101A	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	101					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTGTACGACACCTTTGGAAAT	0.343													8	128					0	0	0	0	G	29161400	C	G	29161400	3	3	443	1	0	0	0	0	1	0	0	0	1080	507	18	4	307	4	ATAD5	17	29161400	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1131320	29161400	52033810	459	87120											
NF1	4763	broad.mit.edu	37	chr17	29663905	29663905	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatatcattcactctctgTgtacttgttcacagcttcat	9	18	4	10	0	5	0	4	0	1	0	6	0	5	0	0	0	2	3	0	0	3	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29663905T>C	ENST00000358273.4	+	42	6783	c.6400T>C	c.(6400-6402)Tgt>Cgt	p.C2134R	NF1_ENST00000356175.3_Missense_Mutation_p.C2113R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2134					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	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)		TCACTCTCTGTGTACTTGTTC	0.403			"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)			24	21					0	0	0	0	C	29663905	T	C	29663905	3	2	443	1	0	0	0	0	1	0	0	0	10426	1696	59	5	6627	5	NF1	17	29663905	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	502505	29663905	51531305	460	87121											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29851008	29851008	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagaacacacagctggTgcacaggtcaagcaggcagc	14	3	13	11	0	1	1	1	0	0	1	1	2	1	1	0	3	5	5	0	3	3	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29851008T>G	ENST00000325874.8	+	9	1356	c.1127T>G	c.(1126-1128)gTg>gGg	p.V376G	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.V274G	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	376	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				ACACAGCTGGTGCACAGGTCA	0.587													5	11					0	0	0	0	G	29851008	T	G	29851008	3	3	443	1	0	0	0	0	1	0	0	0	12978	1696	59	5	1161	5	RAB11FIP4	17	29851008	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	187103	29851008	51344202	461	87122											
CCL18	6362	broad.mit.edu	37	chr17	34398365	34398365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccaataagaagtgggtCcagaaatacatcagcgacct	15	6	9	11	1	1	2	1	0	0	2	2	4	2	2	4	1	2	0	4	1	5	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:34398365C>A	ENST00000004921.3	+	3	297	c.234C>A	c.(232-234)gtC>gtA	p.V78V		NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	78					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGAAGTGGGTCCAGAAATACA	0.567													10	54					9.70103e-10	1.08333e-09	1	0	A	34398365	C	A	34398365	2	1	443	1	0	0	0	0	0	0	0	1	2916	842	30	2		2	CCL18	17	34398365	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4547357	34398365	46796845	462	87123											
LHX1	3975	broad.mit.edu	37	chr17	35297614	35297614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaccaaatgcgcaggctgCgctcagggcatctcccctag	8	7	12	14	2	2	0	1	0	1	0	3	0	2	0	3	3	3	5	3	3	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:35297614C>G	ENST00000254457.5	+	2	1609	c.198C>G	c.(196-198)tgC>tgG	p.C66W	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	66	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCGCAGGCTGCGCTCAGGGCA	0.647													6	7					0	0	0	0	G	35297614	C	G	35297614	3	3	443	1	0	0	0	0	1	0	0	0	8824	776	27	3	204	3	LHX1	17	35297614	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	899249	35297614	45897596	463	87124											
AATF	26574	broad.mit.edu	37	chr17	35343985	35343985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttgcttttccagtaccCagacactagatatctagtag	12	12	8	9	0	1	3	0	0	1	3	2	3	2	3	2	0	2	4	2	0	5	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:35343985C>T	ENST00000225402.5	+	5	1153	c.902C>T	c.(901-903)cCa>cTa	p.P301L		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	301	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TTCCAGTACCCAGACACTAGA	0.418													10	60					0	0	0	0	T	35343985	C	T	35343985	3	4	443	1	0	0	0	0	1	0	0	0	25	594	21	4	920	4	AATF	17	35343985	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	46371	35343985	45851225	464	87125											
ATP6V0A1	535	broad.mit.edu	37	chr17	40629736	40629736	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttggagccaagtgagatggGaagaggcactcctttaagac	12	8	13	8	0	0	3	0	1	0	3	1	6	1	5	2	3	1	1	2	3	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40629736G>C	ENST00000343619.4	+	6	605	c.482G>C	c.(481-483)gGa>gCa	p.G161A	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G161A|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G118A|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G118A|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G168A|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G161A	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	161					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGTGAGATGGGAAGAGGCACT	0.468													4	36					0	0	0	0	C	40629736	G	C	40629736	3	2	443	1	0	0	0	0	1	0	0	0	1172	1174	41	2	521	2	ATP6V0A1	17	40629736	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5285751	40629736	40565474	465	87126											
FAM134C	162427	broad.mit.edu	37	chr17	40735595	40735595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggagagctctgcggCgtactgtgggaagagcacaa	9	7	17	8	2	1	2	0	0	1	2	1	4	1	3	0	4	4	3	0	4	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40735595C>G	ENST00000309428.5	-	7	790	c.731G>C	c.(730-732)cGc>cCc	p.R244P	FAM134C_ENST00000585894.1_Missense_Mutation_p.R147P|FAM134C_ENST00000543197.1_Missense_Mutation_p.R49P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	244						integral to membrane		p.R244H(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AGCTCTGCGGCGTACTGTGGG	0.498													3	41					0	0	0	0	G	40735595	C	G	40735595	3	3	443	1	0	0	0	0	1	0	0	0	5488	768	27	3	681	3	FAM134C	17	40735595	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	105859	40735595	40459615	466	87127											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837111	40837111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctggcctggaacccaCgcggcaagatcggcctgagg	7	5	14	15	3	0	2	0	1	0	1	1	3	0	3	5	5	2	1	5	5	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40837111C>G	ENST00000264638.4	+	4	683	c.466C>G	c.(466-468)Cgc>Ggc	p.R156G	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	156	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGGAACCCACGCGGCAAGAT	0.642													4	68					0	0	0	0	G	40837111	C	G	40837111	3	3	443	1	0	0	0	0	1	0	0	0	3676	536	19	3	480	3	CNTNAP1	17	40837111	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	101516	40837111	40358099	467	87128											
CD300LG	146894	broad.mit.edu	37	chr17	41939211	41939211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcccctgagggggacGtgatctcgatgcctcccctc	5	7	12	17	2	1	2	0	2	1	0	4	4	2	3	6	3	1	0	6	3	0	0	rs144363642	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:41939211G>T	ENST00000317310.4	+	7	972	c.931G>T	c.(931-933)Gtg>Ttg	p.V311L		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	311						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGAGGGGGACGTGATCTCGAT	0.612													6	9					0.0215528	0.0218615	1	0	T	41939211	G	T	41939211	3	4	443	1	0	0	0	0	1	0	0	0	3031	1145	40	3	1076	3	CD300LG	17	41939211	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1102100	41939211	39255999	468	87129											
GRN	2896	broad.mit.edu	37	chr17	42428423	42428423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccacctgctgctccgatCacctgcactgctgcccccaa	7	7	8	19	1	1	0	1	0	0	0	2	1	2	0	6	1	5	4	6	1	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:42428423C>G	ENST00000053867.3	+	8	789	c.727C>G	c.(727-729)Cac>Gac	p.H243D	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	243					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGCTCCGATCACCTGCACTG	0.607											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	79					0	0	0	0	G	42428423	C	G	42428423	3	3	443	1	0	0	0	0	1	0	0	0	6854	826	29	2	753	2	GRN	17	42428423	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	489212	42428423	38766787	469	87130											
NMT1	4836	broad.mit.edu	37	chr17	43173654	43173654	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccccggagtttcttttgtgGtaagttgtgggggctttctt	3	18	13	7	1	2	0	0	0	2	0	3	1	3	1	2	4	0	4	2	4	1	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:43173654G>C	ENST00000592782.1	+	6	727		c.e6+1		NMT1_ENST00000258960.2_Splice_Site|NMT1_ENST00000590114.1_Splice_Site			P30419	NMT1_HUMAN	N-myristoyltransferase 1						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TTCTTTTGTGGTAAGTTGTGG	0.468													5	67					0	0	0	0	C	43173654	G	C	43173654	5	2	443	1	0	0	0	0	0	0	1	0	10573	1275	44	4	615	4	NMT1	17	43173654	Splice_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	745231	43173654	38021556	470	87131											
PLCD3	113026	broad.mit.edu	37	chr17	43190368	43190368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcagggtctgcccccagCgggggttgaagcctagggca	7	6	16	12	1	1	1	0	1	1	0	1	1	1	1	3	4	4	3	3	4	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:43190368C>A	ENST00000322765.5	-	15	2254	c.2141G>T	c.(2140-2142)cGc>cTc	p.R714L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	715	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CTGCCCCCAGCGGGGGTTGAA	0.652													12	28					1.67942e-08	1.85785e-08	1	0	A	43190368	C	A	43190368	3	1	443	1	0	0	0	0	1	0	0	0	12104	768	27	3	233	3	PLCD3	17	43190368	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	16714	43190368	38004842	471	87132											
GOSR2	9570	broad.mit.edu	37	chr17	45017945	45017945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggatcctgccagacagCacactttggaggaaggtctg	11	7	12	11	0	1	1	0	0	1	1	2	4	2	4	3	4	2	1	3	4	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:45017945C>G	ENST00000225567.4	+	7	639	c.608C>G	c.(607-609)gCa>gGa	p.A203G	GOSR2_ENST00000439730.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron	NM_054022.2	NP_473363.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	0					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TGCCAGACAGCACACTTTGGA	0.557											OREG0024493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	117					0	0	0	0	G	45017945	C	G	45017945	3	3	443	1	0	0	0	0	1	0	0	0	6626	710	25	4	801	4	GOSR2	17	45017945	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1827577	45017945	36177265	472	87133											
HOXB13	10481	broad.mit.edu	37	chr17	46805567	46805567	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggttcccggatatcccggaTagaaggcaaactcagtgggg	11	7	14	9	2	1	1	1	0	0	1	3	3	3	3	2	6	1	2	2	6	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:46805567T>G	ENST00000290295.7	-	1	973	c.389A>C	c.(388-390)tAt>tCt	p.Y130S		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	130					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ATATCCCGGATAGAAGGCAAA	0.642													81	112					0	0	0	0	G	46805567	T	G	46805567	3	3	443	1	0	0	0	0	1	0	0	0	7350	1406	49	5	473	5	HOXB13	17	46805567	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	1787622	46805567	34389643	473	87134											
VEZF1	7716	broad.mit.edu	37	chr17	56060673	56060674	+	Frame_Shift_Ins	INS	-	-	G																															ggaagcaatggtttctgatcINSagggggctccacggcagagc																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:56060673_56060674insG	ENST00000584396.1	-	2	175_176	c.87_88insC	c.(85-90)ccatcafs	p.S30fs	VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.S39fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	39					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCCA	0.475													50	124	---	---	---	---					G	56060674	-	G	56060673	7	5	443	1	0	1	1	0	0	0	0	0	17251	826	29	0	1470	0	VEZF1	17	56060673	Frame_Shift_Ins	INS	-	TCGA-KU-A66S-01A-21D-A30E-08	9255106	56060673	25134537	474	87135											
USP32	84669	broad.mit.edu	37	chr17	58258804	58258804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagccattgccacatgcttCatgctcataaaggaatccat	12	11	7	11	0	2	0	2	0	0	0	3	1	3	1	3	1	4	3	3	1	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:58258804C>G	ENST00000300896.4	-	32	4623	c.4429G>C	c.(4429-4431)Gaa>Caa	p.E1477Q	USP32_ENST00000592339.1_Missense_Mutation_p.E1147Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1477					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCACATGCTTCATGCTCATAA	0.498													9	93					0	0	0	0	G	58258804	C	G	58258804	3	3	443	1	0	0	0	0	1	0	0	0	17159	835	29	2	397	2	USP32	17	58258804	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2198131	58258804	22936406	475	87136											
MED13	9969	broad.mit.edu	37	chr17	60107010	60107010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaagcagaatacttcCtcctaagatttaaagttaca	15	12	6	8	0	0	4	0	2	0	2	2	4	2	4	2	0	3	2	2	0	7	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:60107010C>G	ENST00000397786.2	-	8	1251	c.1175G>C	c.(1174-1176)aGg>aCg	p.R392T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	392				R -> K (in Ref. 1; AAD22032).	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAATACTTCCTCCTAAGATT	0.333													3	29					0	0	0	0	G	60107010	C	G	60107010	3	3	443	1	0	0	0	0	1	0	0	0	9499	681	24	4	5441	4	MED13	17	60107010	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1848206	60107010	21088200	476	87137											
STRADA	92335	broad.mit.edu	37	chr17	61787874	61787874	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtacatatcccatgtggtgGatgtagtcgagggccttcag	8	12	13	8	1	1	0	1	0	0	0	3	2	2	1	2	3	1	2	2	3	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:61787874G>C	ENST00000245865.5	-	7	593	c.384C>G	c.(382-384)atC>atG	p.I128M	STRADA_ENST00000336174.6_Missense_Mutation_p.I186M|STRADA_ENST00000582137.1_Missense_Mutation_p.I157M|STRADA_ENST00000392950.4_Missense_Mutation_p.I149M|STRADA_ENST00000375840.4_Missense_Mutation_p.I128M|STRADA_ENST00000447001.3_Missense_Mutation_p.I142M|STRADA_ENST00000579340.1_Missense_Mutation_p.I128M|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_Intron			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	186	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CCATGTGGTGGATGTAGTCGA	0.502													8	42					0	0	0	0	C	61787874	G	C	61787874	3	2	443	1	0	0	0	0	1	0	0	0	15414	1164	41	2	819	2	STRADA	17	61787874	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1680864	61787874	19407336	477	87138											
STRADA	92335	broad.mit.edu	37	chr17	61787903	61787903	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggccttcagcaccccctGcaggatgtaagcaatcgcca	10	6	11	14	1	1	0	1	0	0	0	2	2	1	1	4	2	3	4	4	2	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:61787903G>C	ENST00000245865.5	-	7	564	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	STRADA_ENST00000336174.6_Missense_Mutation_p.Q177E|STRADA_ENST00000582137.1_Missense_Mutation_p.Q148E|STRADA_ENST00000392950.4_Missense_Mutation_p.Q140E|STRADA_ENST00000375840.4_Missense_Mutation_p.Q119E|STRADA_ENST00000447001.3_Missense_Mutation_p.Q133E|STRADA_ENST00000579340.1_Missense_Mutation_p.Q119E|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_Intron			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	177	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						AGCACCCCCTGCAGGATGTAA	0.512													7	44					0	0	0	0	C	61787903	G	C	61787903	3	2	443	1	0	0	0	0	1	0	0	0	15414	1328	46	4	848	4	STRADA	17	61787903	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	29	61787903	19407307	478	87139											
SMURF2	64750	broad.mit.edu	37	chr17	62552006	62552006	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcatccaaggtaattgacttCccaagcaattgcttataaaa	15	12	5	9	0	1	1	1	1	0	0	3	1	3	1	2	1	2	3	2	1	7	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:62552006C>G	ENST00000262435.9	-	14	1729	c.1542G>C	c.(1540-1542)ggG>ggC	p.G514G		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	514	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TAATTGACTTCCCAAGCAATT	0.373													7	54					0	0	0	0	G	62552006	C	G	62552006	2	3	443	1	0	0	0	0	0	0	0	1	14908	842	30	2		2	SMURF2	17	62552006	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	764103	62552006	18643204	479	87140											
CACNG4	27092	broad.mit.edu	37	chr17	65026938	65026938	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcctgaagatcacagggGccatccccatgggggagctg	8	6	16	11	0	1	2	1	1	0	1	2	3	2	3	4	5	1	1	4	5	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:65026938G>C	ENST00000262138.3	+	4	804	c.802G>C	c.(802-804)Gcc>Ccc	p.A268P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	268					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GATCACAGGGGCCATCCCCAT	0.672													8	57					0	0	0	0	C	65026938	G	C	65026938	3	2	443	1	0	0	0	0	1	0	0	0	2584	1203	42	4	816	4	CACNG4	17	65026938	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2474932	65026938	16168272	480	87141											
FAM20A	54757	broad.mit.edu	37	chr17	66551869	66551869	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggttcatctgctctctGtacatcttgtgtcgcctgaa	7	15	9	10	1	4	1	1	1	3	0	6	1	4	1	1	1	2	4	1	1	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:66551869G>C	ENST00000592554.1	-	2	1142	c.420C>G	c.(418-420)taC>taG	p.Y140*	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	140						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TCTGCTCTCTGTACATCTTGT	0.512													6	48					0	0	0	0	C	66551869	G	C	66551869	4	2	443	1	0	0	0	0	0	1	0	0	5580	1372	48	4	1245	4	FAM20A	17	66551869	Nonsense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1524931	66551869	14643341	481	87142											
MAP2K6	5608	broad.mit.edu	37	chr17	67513736	67513736	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcggcacgtgcccagcggGcagatcatggcagtgaaggt	9	6	16	10	3	1	2	1	1	0	1	1	2	1	2	1	4	3	3	1	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:67513736G>C	ENST00000590474.1	+	4	515	c.228G>C	c.(226-228)ggG>ggC	p.G76G	MAP2K6_ENST00000589647.1_Silent_p.G20G	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	76	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGCCCAGCGGGCAGATCATGG	0.493													4	26					0	0	0	0	C	67513736	G	C	67513736	2	2	443	1	0	0	0	0	0	0	0	1	9310	1190	42	4		4	MAP2K6	17	67513736	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	961867	67513736	13681474	482	87143											
SGSH	6448	broad.mit.edu	37	chr17	78188108	78188108	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgggggtcgtggaaggCgacgtagaggaagaaaggcc	10	4	21	6	4	0	2	0	0	0	2	1	5	0	4	1	7	0	1	1	7	4	1	rs141533664		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:78188108C>G	ENST00000326317.6	-	5	612	c.526G>C	c.(526-528)Gcc>Ccc	p.A176P	SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.S187S	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	176					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGTGGAAGGCGACGTAGAGG	0.642													4	44					0	0	0	0	G	78188108	C	G	78188108	3	3	443	1	0	0	0	0	1	0	0	0	14308	768	27	3	998	3	SGSH	17	78188108	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	10674372	78188108	3007102	483	87144											
TYMS	7298	broad.mit.edu	37	chr18	670789	670789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaccagagatcgggagaCatgggcctcggtgtgccttt	7	10	14	10	2	0	2	0	0	0	2	2	4	0	2	3	3	2	1	3	3	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:670789C>G	ENST00000323274.10	+	5	793	c.654C>G	c.(652-654)gaC>gaG	p.D218E	TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.D184E|TYMS_ENST00000323250.5_Missense_Mutation_p.D135E	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	218					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	GATCGGGAGACATGGGCCTCG	0.592													6	152					0	0	0	0	G	670789	C	G	670789	3	3	443	1	0	0	0	0	1	0	0	0	16908	477	17	4	672	4	TYMS	18	670789	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		670789	77406459	484	87145											
EMILIN2	84034	broad.mit.edu	37	chr18	2847887	2847887	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttttattcaggctcagtAcaactgtgcctggaaccaga	11	11	10	9	0	2	1	2	0	0	1	2	3	2	2	2	2	4	3	2	2	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:2847887A>T	ENST00000254528.3	+	2	374	c.215A>T	c.(214-216)tAc>tTc	p.Y72F		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	72	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGGCTCAGTACAACTGTGCC	0.647													21	36					0	0	0	0	T	2847887	A	T	2847887	3	4	443	1	0	0	0	0	1	0	0	0	5132	391	14	5	221	5	EMILIN2	18	2847887	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	2177098	2847887	75229361	485	87146											
EPB41L3	23136	broad.mit.edu	37	chr18	5415927	5415927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggaaggagagagtgagagCgtatggcactgagaaggagg	14	4	20	3	1	0	3	0	2	0	3	0	9	0	6	0	5	1	2	0	5	3	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:5415927C>A	ENST00000341928.2	-	13	2297	c.1957G>T	c.(1957-1959)Gct>Tct	p.A653S	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A653S|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	653	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			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						AGAGTGAGAGCGTATGGCACT	0.572													35	52					1.36615e-20	1.65906e-20	1	0	A	5415927	C	A	5415927	3	1	443	1	0	0	0	0	1	0	0	0	5192	768	27	3	1346	3	EPB41L3	18	5415927	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2568040	5415927	72661321	486	87147											
ELP2	55250	broad.mit.edu	37	chr18	33721123	33721123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatattagcatgtggcaatGatgattgcagaattcacata	15	12	8	6	0	1	3	1	2	0	1	1	3	1	3	0	1	2	3	0	1	6	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:33721123G>A	ENST00000358232.6	+	6	610	c.547G>A	c.(547-549)Gat>Aat	p.D183N	ELP2_ENST00000351393.6_Missense_Mutation_p.D157N|ELP2_ENST00000542824.1_Missense_Mutation_p.D157N|ELP2_ENST00000350494.6_Missense_Mutation_p.D222N|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000442325.2_Missense_Mutation_p.D248N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	183					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATGTGGCAATGATGATTGCAG	0.343													17	33					0	0	0	0	A	33721123	G	A	33721123	3	1	443	1	0	0	0	0	1	0	0	0	5118	1290	45	2	569	2	ELP2	18	33721123	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	28305196	33721123	44356125	487	87148											
KIAA1468	57614	broad.mit.edu	37	chr18	59854900	59854900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcctggctctgcgggctcGctgtcgccacaggatcccgt	4	9	13	15	4	1	0	0	0	1	0	5	2	3	1	3	3	1	3	3	3	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:59854900G>A	ENST00000256858.6	+	1	410	c.162G>A	c.(160-162)tcG>tcA	p.S54S	KIAA1468_ENST00000398130.2_Silent_p.S54S			Q9P260	K1468_HUMAN	KIAA1468	54							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CTGCGGGCTCGCTGTCGCCAC	0.687													16	62					0	0	0	0	A	59854900	G	A	59854900	2	1	443	1	0	0	0	0	0	0	0	1	8287	1074	38	1		1	KIAA1468	18	59854900	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	26133777	59854900	18222348	488	87149											
SERPINB12	89777	broad.mit.edu	37	chr18	61232769	61232769	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagatcctggaaatgaGgtacaccaaggggaagctca	14	5	13	9	0	1	2	1	1	0	1	2	4	2	4	2	5	2	3	2	5	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:61232769G>C	ENST00000382768.1	+	6	797	c.797G>C	c.(796-798)aGg>aCg	p.R266T	SERPINB12_ENST00000269491.1_Missense_Mutation_p.R246T			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	246					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGGAAATGAGGTACACCAAG	0.453													5	83					0	0	0	0	C	61232769	G	C	61232769	3	2	443	1	0	0	0	0	1	0	0	0	14186	1000	35	4	759	4	SERPINB12	18	61232769	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1377869	61232769	16844479	489	87150											
ZNF236	7776	broad.mit.edu	37	chr18	74637193	74637193	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacgccttctccacgaAgggaagtctgaaggtccaca	12	6	10	13	2	2	1	0	1	2	0	4	3	3	2	3	2	2	1	3	2	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:74637193A>T	ENST00000253159.8	+	22	3902	c.3704A>T	c.(3703-3705)aAg>aTg	p.K1235M	ZNF236_ENST00000320610.9_Missense_Mutation_p.K1237M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1235					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTCCACGAAGGGAAGTCTG	0.567													39	52					0	0	0	0	T	74637193	A	T	74637193	3	4	443	1	0	0	0	0	1	0	0	0	17884	72	3	5	3790	5	ZNF236	18	74637193	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	13404424	74637193	3440055	490	87151											
AP3D1	8943	broad.mit.edu	37	chr19	2110192	2110192	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgacgatgctctggatGgtgaacacatactgggcttc	9	10	12	10	1	1	2	0	2	1	0	2	4	1	3	1	3	3	2	1	3	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:2110192G>C	ENST00000355272.6	-	28	3413	c.3207C>G	c.(3205-3207)acC>acG	p.T1069T	AP3D1_ENST00000345016.5_Silent_p.T1007T|AP3D1_ENST00000356926.4_Silent_p.T966T|AP3D1_ENST00000350812.6_Silent_p.T838T	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1007					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGCTCTGGATGGTGAACACAT	0.637													5	63					0	0	0	0	C	2110192	G	C	2110192	2	2	443	1	0	0	0	0	0	0	0	1	747	1335	47	4		4	AP3D1	19	2110192	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		2110192	57018791	491	87152											
ATCAY	85300	broad.mit.edu	37	chr19	3907813	3907813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacgacggaggacggcaGcgccgccaacgggcgcctgt	7	2	17	15	8	0	0	0	0	0	0	0	3	0	2	3	5	2	2	3	5	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:3907813G>T	ENST00000450849.2	+	5	907	c.440G>T	c.(439-441)aGc>aTc	p.S147I	ATCAY_ENST00000301260.6_Missense_Mutation_p.S147I|ATCAY_ENST00000600960.1_Missense_Mutation_p.S147I|ATCAY_ENST00000398448.3_Missense_Mutation_p.S153I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	147					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGACGGCAGCGCCGCCAAC	0.642													29	47					1.13719e-10	1.27596e-10	1	0	T	3907813	G	T	3907813	3	4	443	1	0	0	0	0	1	0	0	0	1081	971	34	4	454	4	ATCAY	19	3907813	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1797621	3907813	55221170	492	87153											
CREB3L3	84699	broad.mit.edu	37	chr19	4171755	4171755	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgaggctgacacaacccGagaagagtctccaggaagcc	13	3	11	14	2	1	3	0	1	1	2	2	6	1	4	4	2	2	1	4	2	3	0	rs145017010	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:4171755G>T	ENST00000252587.3	+	7	984	c.841G>T	c.(841-843)Gag>Tag	p.E281*	CREB3L3_ENST00000078445.2_Missense_Mutation_p.R392L|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R391L|CREB3L3_ENST00000602257.1_Missense_Mutation_p.R390L			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	119	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GACACAACCCGAGAAGAGTCT	0.647													18	129					8.34094e-07	8.98841e-07	1	0	T	4171755	G	T	4171755	4	4	443	1	0	0	0	0	0	1	0	0	3888	1058	37	3	1213	3	CREB3L3	19	4171755	Nonsense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	263942	4171755	54957228	493	87154											
FUT3	2525	broad.mit.edu	37	chr19	5844778	5844778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaacacacagccaccaGcagctgaaatagcagtgcgg	16	3	11	11	1	0	2	0	1	0	1	0	3	0	2	2	1	6	3	2	1	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:5844778G>C	ENST00000303225.6	-	3	707	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	FUT3_ENST00000589620.1_Missense_Mutation_p.L25V|FUT3_ENST00000458379.2_Missense_Mutation_p.L25V|FUT3_ENST00000589918.1_Missense_Mutation_p.L25V	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	25					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ACAGCCACCAGCAGCTGAAAT	0.612													3	36					0	0	0	0	C	5844778	G	C	5844778	3	2	443	1	0	0	0	0	1	0	0	0	6153	962	34	4	1016	4	FUT3	19	5844778	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1673023	5844778	53284205	494	87155											
ICAM3	3385	broad.mit.edu	37	chr19	10445934	10445934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacctgggcctctgaggCtggaaaaagcccgtctaggg	9	7	15	10	1	2	2	0	1	2	1	2	3	2	3	3	4	1	2	3	4	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10445934C>A	ENST00000589261.1	-	4	1046	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S	ICAM3_ENST00000160262.5_Missense_Mutation_p.A249S			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	249	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCCTCTGAGGCTGGAAAAAGC	0.672													45	93					3.54909e-21	4.33982e-21	1	0	A	10445934	C	A	10445934	3	1	443	1	0	0	0	0	1	0	0	0	7534	797	28	4	914	4	ICAM3	19	10445934	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	4601156	10445934	48683049	495	87156											
KEAP1	9817	broad.mit.edu	37	chr19	10602293	10602293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagccgtgggagccgcCgacggcatagatgtggccat	8	6	16	11	4	0	1	0	0	0	1	0	4	0	2	4	3	3	2	4	3	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10602293C>T	ENST00000171111.5	-	3	1832	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	KEAP1_ENST00000393623.2_Missense_Mutation_p.G429S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGGAGCCGCCGACGGCATAG	0.652													5	21					0	0	0	0	T	10602293	C	T	10602293	3	4	443	1	0	0	0	0	1	0	0	0	8193	652	23	1	605	1	KEAP1	19	10602293	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	156359	10602293	48526690	496	87157											
KEAP1	9817	broad.mit.edu	37	chr19	10602878	10602878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacgttcaggtcgtcccGgctgatgagggtcaccagtt	6	9	14	12	4	2	2	2	2	0	0	4	2	3	2	2	3	0	4	2	3	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10602878G>A	ENST00000171111.5	-	3	1247	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R234W	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	234	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AGGTCGTCCCGGCTGATGAGG	0.612													11	48					0	0	0	0	A	10602878	G	A	10602878	3	1	443	1	0	0	0	0	1	0	0	0	8193	1115	39	1	1190	1	KEAP1	19	10602878	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	585	10602878	48526105	497	87158											
SLC44A2	57153	broad.mit.edu	37	chr19	10742738	10742738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggcctggtcattgccatGgcgatgagcctcctgttcat	7	11	12	11	1	2	2	2	1	0	1	3	3	3	2	4	3	2	1	4	3	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10742738G>C	ENST00000586078.1	+	10	838	c.729G>C	c.(727-729)atG>atC	p.M243I	SLC44A2_ENST00000335757.5_Missense_Mutation_p.M243I|SLC44A2_ENST00000407327.4_Missense_Mutation_p.M241I	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	243					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCATTGCCATGGCGATGAGCC	0.572													6	204					0	0	0	0	C	10742738	G	C	10742738	3	2	443	1	0	0	0	0	1	0	0	0	14724	1348	47	4	802	4	SLC44A2	19	10742738	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	139860	10742738	48386245	498	87159											
PKN1	5585	broad.mit.edu	37	chr19	14552082	14552082	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaaatccgcaaggagcTgaagctgaaggagggtgctg	11	5	18	7	2	0	2	0	2	0	0	1	5	1	5	1	4	3	4	1	4	4	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:14552082T>G	ENST00000242783.6	+	2	314	c.149T>G	c.(148-150)cTg>cGg	p.L50R	PKN1_ENST00000342216.4_Missense_Mutation_p.L56R|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	50					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGCAAGGAGCTGAAGCTGAAG	0.736													4	6					0	0	0	0	G	14552082	T	G	14552082	3	3	443	1	0	0	0	0	1	0	0	0	12051	1580	55	5	198	5	PKN1	19	14552082	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	3809344	14552082	44576901	499	87160											
ARRDC2	27106	broad.mit.edu	37	chr19	18119172	18119172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttggacggcgcgaccgCgggcgtcgagcccgtgttta	5	7	17	12	8	0	0	0	0	0	0	1	3	0	1	2	3	1	3	2	3	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:18119172C>T	ENST00000222250.4	+	1	196	c.53C>T	c.(52-54)gCg>gTg	p.A18V	ARRDC2_ENST00000595712.1_Intron|ARRDC2_ENST00000379656.2_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	18										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGCGCGACCGCGGGCGTCGAG	0.706													12	27					0	0	0	0	T	18119172	C	T	18119172	3	4	443	1	0	0	0	0	1	0	0	0	987	768	27	1	318	1	ARRDC2	19	18119172	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3567090	18119172	41009811	500	87161											
NCAN	1463	broad.mit.edu	37	chr19	19345864	19345864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcaatggctttgtctGcctttgcctccccagctatg	5	14	10	12	0	2	1	1	1	1	0	3	1	3	1	4	2	3	2	4	2	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:19345864G>T	ENST00000252575.5	+	10	3252	c.3209G>T	c.(3208-3210)tGc>tTc	p.C1070F	NCAN_ENST00000538881.1_Missense_Mutation_p.C521F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1070	EGF-like 2; calcium-binding (Potential).				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCTTTGTCTGCCTTTGCCTC	0.527													27	57					8.58068e-18	1.0262e-17	1	0	T	19345864	G	T	19345864	3	4	443	1	0	0	0	0	1	0	0	0	10274	1319	46	4	3243	4	NCAN	19	19345864	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	1226692	19345864	39783119	501	87162											
ZNF486	90649	broad.mit.edu	37	chr19	20307969	20307969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgtttgacaactacccaGagcaaaatatttcaatgtgg	15	11	7	8	0	1	2	1	1	0	1	1	2	1	2	1	1	3	2	1	1	7	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:20307969G>A	ENST00000335117.8	+	4	507	c.450G>A	c.(448-450)caG>caA	p.Q150Q	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAACTACCCAGAGCAAAATAT	0.303													36	74					0	0	0	0	A	20307969	G	A	20307969	2	1	443	1	0	0	0	0	0	0	0	1	18034	933	33	2		2	ZNF486	19	20307969	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	962105	20307969	38821014	502	87163											
ZNF714	148206	broad.mit.edu	37	chr19	21299746	21299746	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaggctccgcaaatgtGgttgagtgtaaggtgtacaa	14	9	13	5	1	0	2	0	1	0	1	1	2	1	2	1	3	1	5	1	3	6	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:21299746G>C	ENST00000596143.1	+	5	601	c.276G>C	c.(274-276)gtG>gtC	p.V92V	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CCGCAAATGTGGTTGAGTGTA	0.343													7	39					0	0	0	0	C	21299746	G	C	21299746	2	2	443	1	0	0	0	0	0	0	0	1	18213	1335	47	4		4	ZNF714	19	21299746	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	991777	21299746	37829237	503	87164											
ZNF208	7757	broad.mit.edu	37	chr19	22157366	22157366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtctgtttgaatttgaaCatttatgaaagacatttgca	13	17	7	4	0	1	4	0	3	1	1	1	4	1	4	0	0	2	2	0	0	5	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:22157366C>T	ENST00000397126.4	-	4	618	c.470G>A	c.(469-471)tGt>tAt	p.C157Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTTGAACATTTATGAAA	0.333													25	37					0	0	0	0	T	22157366	C	T	22157366	3	4	443	1	0	0	0	0	1	0	0	0	17861	478	17	4	3376	4	ZNF208	19	22157366	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	857620	22157366	36971617	504	87165											
CEACAM6	4680	broad.mit.edu	37	chr19	42265998	42265998	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tactcttggtttatcaatggGacgttccagcaatccacaca	11	12	7	11	1	2	0	1	0	1	0	4	1	4	1	2	2	2	3	2	2	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:42265998G>C	ENST00000199764.6	+	4	1043	c.825G>C	c.(823-825)ggG>ggC	p.G275G	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	275	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TTATCAATGGGACGTTCCAGC	0.502													5	95					0	0	0	0	C	42265998	G	C	42265998	2	2	443	1	0	0	0	0	0	0	0	1	3225	1161	41	2		2	CEACAM6	19	42265998	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	20108632	42265998	16862985	505	87166											
PSG6	5675	broad.mit.edu	37	chr19	43414865	43414865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggttttggacagctgcaaCctgtgagtcatagggaggtt	8	13	14	6	0	1	1	1	1	0	0	1	3	1	3	1	4	3	4	1	4	2	5	rs1058688		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:43414865C>T	ENST00000187910.2	-	3	638	c.573G>A	c.(571-573)agG>agA	p.R191R	PSG6_ENST00000402603.4_Silent_p.R191R|PSG6_ENST00000292125.2_Silent_p.R191R	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.R191S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACAGCTGCAACCTGTGAGTCA	0.498													71	89					0	0	0	0	T	43414865	C	T	43414865	2	4	443	1	0	0	0	0	0	0	0	1	12738	506	18	4		4	PSG6	19	43414865	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1148867	43414865	15714118	506	87167											
ETHE1	23474	broad.mit.edu	37	chr19	44012063	44012063	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccagcccctcctctctCagacccagaagtccaggtcc	8	6	7	20	0	2	2	1	0	1	2	6	3	5	2	8	1	1	0	8	1	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:44012063C>A	ENST00000600651.1	-	6	768	c.745G>T	c.(745-747)Gag>Tag	p.E249*	ETHE1_ENST00000292147.2_Intron			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	15						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				cctcctctctcagacccagaa	0.617													4	14					0.00024832	0.000258926	1	0	A	44012063	C	A	44012063	4	1	443	1	0	0	0	0	0	1	0	0	5310	841	29	2		2	ETHE1	19	44012063	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	597198	44012063	15116920	507	87168											
ZNF227	7770	broad.mit.edu	37	chr19	44739783	44739783	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatctccgtgttcaccagagGgtccacaggggtgagaagcc	10	7	13	11	1	2	2	1	1	1	2	4	3	3	2	4	3	1	1	4	3	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:44739783G>C	ENST00000313040.7	+	6	1405	c.1200G>C	c.(1198-1200)agG>agC	p.R400S	ZNF227_ENST00000391961.2_Missense_Mutation_p.R349S|ZNF227_ENST00000589005.1_Missense_Mutation_p.R349S	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TTCACCAGAGGGTCCACAGGG	0.488													12	51					0	0	0	0	C	44739783	G	C	44739783	3	2	443	1	0	0	0	0	1	0	0	0	17876	1223	43	4	1214	4	ZNF227	19	44739783	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	727720	44739783	14389200	508	87169											
QPCTL	54814	broad.mit.edu	37	chr19	46198710	46198710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagttcctggaggccacgCtgcggtccctgacagcaggt	6	8	14	13	2	0	1	0	1	0	0	2	2	2	2	3	4	2	4	3	4	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:46198710C>T	ENST00000012049.5	+	3	588	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	123				Missing (in Ref. 4; AAH11553).	peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		GGAGGCCACGCTGCGGTCCCT	0.647													32	47					0	0	0	0	T	46198710	C	T	46198710	2	4	443	1	0	0	0	0	0	0	0	1	12957	796	28	4		4	QPCTL	19	46198710	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1458927	46198710	12930273	509	87170											
LIG1	3978	broad.mit.edu	37	chr19	48646858	48646858	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagccaggtaaggaacccTagggaaggaaaagagacgca	17	2	13	9	1	0	1	0	0	0	1	0	5	0	4	2	4	2	2	2	4	6	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:48646858T>C	ENST00000263274.7	-	11	1277		c.e11-2		LIG1_ENST00000536218.1_Splice_Site|LIG1_ENST00000427526.2_Splice_Site	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TAAGGAACCCTAGGGAAGGAA	0.602								Nucleotide excision repair (NER)					38	61					0	0	0	0	C	48646858	T	C	48646858	5	2	443	1	0	0	0	0	0	0	1	0	8835	1536	53	5	1975	5	LIG1	19	48646858	Splice_Site	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	2448148	48646858	10482125	510	87171											
MAMSTR	284358	broad.mit.edu	37	chr19	49217150	49217150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcttcctgcagctcctcCtccagagtcagagccgctga	7	9	9	16	2	1	3	1	1	0	2	6	3	5	3	5	0	3	4	5	0	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:49217150C>G	ENST00000318083.6	-	8	939	c.876G>C	c.(874-876)gaG>gaC	p.E292D	MAMSTR_ENST00000377367.3_Missense_Mutation_p.E124D|MAMSTR_ENST00000356751.4_Missense_Mutation_p.E189D|MAMSTR_ENST00000419611.1_Missense_Mutation_p.E189D|MAMSTR_ENST00000594582.1_Missense_Mutation_p.E124D			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	292	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						GCAGCTCCTCCTCCAGAGTCA	0.672													10	103					0	0	0	0	G	49217150	C	G	49217150	3	3	443	1	0	0	0	0	1	0	0	0	9278	680	24	4	383	4	MAMSTR	19	49217150	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	570292	49217150	9911833	511	87172											
PPP1R15A	23645	broad.mit.edu	37	chr19	49379131	49379131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcctctgtcccttcgtcCccagtccagaccacgccctt	4	11	5	21	2	1	1	0	0	1	1	7	1	6	1	8	0	0	0	8	0	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:49379131C>T	ENST00000200453.5	+	3	2195	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	642					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCCCTTCGTCCCCAGTCCAGA	0.677													79	151					0	0	0	0	T	49379131	C	T	49379131	2	4	443	1	0	0	0	0	0	0	0	1	12439	610	22	4		4	PPP1R15A	19	49379131	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	161981	49379131	9749852	512	87173											
SYT3	84258	broad.mit.edu	37	chr19	51135875	51135875	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggccagccgccaggtggtgCccgcctccgcctaccaggcc	5	4	13	19	3	0	0	0	0	0	0	1	0	1	0	9	4	3	0	9	4	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51135875C>G	ENST00000338916.4	-	2	975	c.342G>C	c.(340-342)ggG>ggC	p.G114G	SYT3_ENST00000593901.1_Silent_p.G114G|SYT3_ENST00000544769.1_Silent_p.G114G|SYT3_ENST00000600079.1_Silent_p.G114G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	114						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGGTGGTGCCCGCCTCCGC	0.721													18	8					0	0	0	0	G	51135875	C	G	51135875	2	3	443	1	0	0	0	0	0	0	0	1	15566	726	26	4		4	SYT3	19	51135875	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1756744	51135875	7993108	513	87174											
KLK13	26085	broad.mit.edu	37	chr19	51559848	51559848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatttctcaacttttatTgtgggcccttcaaccatttt	8	18	5	10	0	2	0	2	0	1	0	3	0	2	0	2	1	3	1	2	1	4	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51559848T>C	ENST00000595793.1	-	5	872	c.830A>G	c.(829-831)cAa>cGa	p.Q277R	KLK13_ENST00000335422.3_Missense_Mutation_p.Q125R|KLK13_ENST00000595547.1_Missense_Mutation_p.Q204R	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	277					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CAACTTTTATTGTGGGCCCTT	0.483													5	193					0	0	0	0	C	51559848	T	C	51559848	3	2	443	1	0	0	0	0	1	0	0	0	8453	1812	63	5	7	5	KLK13	19	51559848	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	423973	51559848	7569135	514	87175											
SIGLEC9	27180	broad.mit.edu	37	chr19	51633170	51633170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgactgaaccttgggCagaagacagtcccccagacc	10	5	10	16	0	0	5	0	2	0	3	1	5	1	5	6	1	1	1	6	1	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51633170C>T	ENST00000250360.3	+	7	1293	c.1226C>T	c.(1225-1227)gCa>gTa	p.A409V	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	409					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAACCTTGGGCAGAAGACAGT	0.602													42	68					0	0	0	0	T	51633170	C	T	51633170	3	4	443	1	0	0	0	0	1	0	0	0	14403	710	25	4	1252	4	SIGLEC9	19	51633170	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	73322	51633170	7495813	515	87176											
VN1R2	317701	broad.mit.edu	37	chr19	53762018	53762018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagatttgattctcaggcaCctgactgtagctgactcctt	9	13	8	11	0	1	4	1	3	1	1	3	4	2	4	2	1	1	3	2	1	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:53762018C>A	ENST00000341702.3	+	1	474	c.390C>A	c.(388-390)caC>caA	p.H130Q		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	130					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCTCAGGCACCTGACTGTAG	0.373													23	39					2.79863e-10	3.13022e-10	1	0	A	53762018	C	A	53762018	3	1	443	1	0	0	0	0	1	0	0	0	17275	506	18	4	392	4	VN1R2	19	53762018	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2128848	53762018	5366965	516	87177											
ZNF331	55422	broad.mit.edu	37	chr19	54080353	54080353	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttactcaacatcaaaaaaTtcatactggggagaagccct	15	9	7	10	0	3	1	3	0	0	1	3	2	3	1	1	2	4	1	1	2	7	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:54080353T>A	ENST00000253144.9	+	7	1872	c.539T>A	c.(538-540)aTt>aAt	p.I180N	ZNF331_ENST00000411977.2_Missense_Mutation_p.I180N|ZNF331_ENST00000513999.1_Missense_Mutation_p.I180N|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.I180N|ZNF331_ENST00000511593.2_Missense_Mutation_p.I180N|ZNF331_ENST00000449416.1_Missense_Mutation_p.I180N|ZNF331_ENST00000511154.1_Missense_Mutation_p.I180N	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CATCAAAAAATTCATACTGGG	0.413			T	?	follicular thyroid adenoma								58	72					0	0	0	0	A	54080353	T	A	54080353	3	1	443	1	0	0	0	0	1	0	0	0	17944	1493	52	5	549	5	ZNF331	19	54080353	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	318335	54080353	5048630	517	87178											
NLRP12	91662	broad.mit.edu	37	chr19	54313468	54313468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtctaggccgtgcttcCggaggtcctgctcctcaaat	5	10	10	16	3	2	0	1	0	1	0	5	1	5	1	6	3	2	2	6	3	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:54313468C>T	ENST00000324134.6	-	3	1613	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	NLRP12_ENST00000391775.3_Missense_Mutation_p.R482Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R482Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R482Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R482Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R482Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	482	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCGTGCTTCCGGAGGTCCTG	0.567													47	80					0	0	0	0	T	54313468	C	T	54313468	3	4	443	1	0	0	0	0	1	0	0	0	10544	652	23	1	1868	1	NLRP12	19	54313468	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	233115	54313468	4815515	518	87179											
U2AF2	11338	broad.mit.edu	37	chr19	56180125	56180125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctccaagggctacgccttCtgtgagtacgtggacatcaa	9	10	10	12	2	3	1	1	1	2	0	4	2	3	2	2	2	2	2	2	2	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:56180125C>G	ENST00000450554.2	+	9	1871	c.912C>G	c.(910-912)ttC>ttG	p.F304L	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.F140L|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.F304L	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	304	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCTACGCCTTCTGTGAGTACG	0.622													7	89					0	0	0	0	G	56180125	C	G	56180125	3	3	443	1	0	0	0	0	1	0	0	0	16919	912	32	2	946	2	U2AF2	19	56180125	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1866657	56180125	2948858	519	87180											
ZNF135	7694	broad.mit.edu	37	chr19	58579588	58579588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccaaggaaaagccgtatgGgtgcaatgagtgtgggaaat	14	7	14	6	1	0	1	0	1	0	0	0	3	0	3	2	3	2	2	2	3	6	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:58579588G>C	ENST00000506786.1	+	5	2164	c.1610G>C	c.(1609-1611)gGg>gCg	p.G537A	ZNF135_ENST00000401053.4_Missense_Mutation_p.G603A|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.G579A|ZNF135_ENST00000313434.5_Missense_Mutation_p.G579A|ZNF135_ENST00000511556.1_Missense_Mutation_p.G591A			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	591					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAGCCGTATGGGTGCAATGAG	0.537													5	91					0	0	0	0	C	58579588	G	C	58579588	3	2	443	1	0	0	0	0	1	0	0	0	17820	1232	43	4	1939	4	ZNF135	19	58579588	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2399463	58579588	549395	520	87181											
TRIM28	10155	broad.mit.edu	37	chr19	59061843	59061843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agttctctgctgtgctggtgGagcccccgccgatgagcctg	4	10	14	13	2	1	1	0	1	1	0	2	3	1	2	4	2	4	3	4	2	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:59061843G>C	ENST00000253024.5	+	17	2720	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	TRIM28_ENST00000341753.6_Missense_Mutation_p.E729Q	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	811					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGTGCTGGTGGAGCCCCCGCC	0.657													5	50					0	0	0	0	C	59061843	G	C	59061843	3	2	443	1	0	0	0	0	1	0	0	0	16597	1175	41	2	2497	2	TRIM28	19	59061843	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	482255	59061843	67140	521	87182											
ANGPT4	51378	broad.mit.edu	37	chr20	853762	853762	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaggcgtcaaaccaccaCcctggtggaagagggaggac	12	3	13	13	1	1	1	1	0	0	1	1	4	1	4	4	5	1	0	4	5	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:853762C>G	ENST00000381922.3	-	9	1455	c.1351_splice	c.e9-1	p.G451_splice	ANGPT4_ENST00000546022.1_Splice_Site_p.V408_splice	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	451	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAAACCACCACCCTGGTGGAA	0.592													7	23					0	0	0	0	G	853762	C	G	853762	5	3	443	1	0	0	0	0	0	0	1	0	612	521	18	4	162	4	ANGPT4	20	853762	Splice_Site	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		853762	62171758	522	87183											
SNPH	9751	broad.mit.edu	37	chr20	1276928	1276928	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgacgtggcctggcccGgccctttctgcgggcccccc	3	7	14	17	3	1	1	0	1	1	0	1	2	1	2	6	5	1	0	6	5	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:1276928G>T	ENST00000381867.1	+	4	687	c.45G>T	c.(43-45)ccG>ccT	p.P15P	RAD21L1_ENST00000381882.2_Intron|RAD21L1_ENST00000402452.1_Intron|SNPH_ENST00000381873.3_Intron			O15079	SNPH_HUMAN	syntaphilin	0					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCCTGGCCCGGCCCTTTCTG	0.701													6	7					0.0215528	0.0218615	1	0	T	1276928	G	T	1276928	2	4	443	1	0	0	0	0	0	0	0	1	14938	1131	39	3		3	SNPH	20	1276928	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	423166	1276928	61748592	523	87184											
SIRPB1	10326	broad.mit.edu	37	chr20	1592331	1592331	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggacttgtcaggctgaatCacctgcagctcttcctcgcc	7	11	9	14	1	3	1	2	1	1	0	5	2	4	2	3	2	2	3	3	2	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:1592331C>G	ENST00000279477.7	-	2	169	c.105G>C	c.(103-105)gtG>gtC	p.V35V	SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.V35V|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	35	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGCTGAATCACCTGCAGCT	0.517													9	20					0	0	0	0	G	1592331	C	G	1592331	2	3	443	1	0	0	0	0	0	0	0	1	14421	813	29	2		2	SIRPB1	20	1592331	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	315403	1592331	61433189	524	87185											
DDRGK1	65992	broad.mit.edu	37	chr20	3171381	3171381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcggcgatggacaccCggccccgctgtcggatgaag	8	5	14	14	5	0	1	0	1	0	0	2	4	0	3	3	4	1	2	3	4	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:3171381C>T	ENST00000354488.3	-	9	920	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	288						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GATGGACACCCGGCCCCGCTG	0.647													6	42					0	0	0	0	T	3171381	C	T	3171381	3	4	443	1	0	0	0	0	1	0	0	0	4370	652	23	1	85	1	DDRGK1	20	3171381	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1579050	3171381	59854139	525	87186											
SNTA1	6640	broad.mit.edu	37	chr20	32005704	32005704	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtagagttcttgaaataCggtgagacgtccttcatata	12	12	9	8	2	2	3	1	2	1	2	3	4	3	3	2	1	1	2	2	1	5	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:32005704C>G	ENST00000217381.2	-	3	793	c.522G>C	c.(520-522)ccG>ccC	p.P174P		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	174	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCTTGAAATACGGTGAGACGT	0.547													7	70					0	0	0	0	G	32005704	C	G	32005704	2	3	443	1	0	0	0	0	0	0	0	1	14959	523	19	3		3	SNTA1	20	32005704	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	28834323	32005704	31019816	526	87187											
NCOA6	23054	broad.mit.edu	37	chr20	33329604	33329604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acttaacgatgttggtgcttCcctcatagcaggagacacca	11	10	9	11	1	1	1	1	0	0	1	2	3	2	1	2	2	3	3	2	2	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:33329604C>G	ENST00000374796.2	-	12	7026	c.4456G>C	c.(4456-4458)Gaa>Caa	p.E1486Q	NCOA6_ENST00000359003.2_Missense_Mutation_p.E1486Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1486					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTTGGTGCTTCCCTCATAGCA	0.468													12	80					0	0	0	0	G	33329604	C	G	33329604	3	3	443	1	0	0	0	0	1	0	0	0	10303	864	30	2	1755	2	NCOA6	20	33329604	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1323900	33329604	29695916	527	87188											
PHF20	51230	broad.mit.edu	37	chr20	34526929	34526929	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacgatgcggtcaaccccCtccatgagaacggcgatgat	10	7	11	13	5	1	2	1	2	0	1	3	6	2	2	3	2	3	0	3	2	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:34526929C>G	ENST00000374012.3	+	16	2740	c.2611C>G	c.(2611-2613)Ctc>Gtc	p.L871V	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGTCAACCCCCTCCATGAGAA	0.632													4	72					0	0	0	0	G	34526929	C	G	34526929	3	3	443	1	0	0	0	0	1	0	0	0	11903	681	24	4	2669	4	PHF20	20	34526929	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1197325	34526929	28498591	528	87189											
DLGAP4	22839	broad.mit.edu	37	chr20	35060693	35060693	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggagcgggccaaggctggGgagcccaaacggcgcagccg	10	1	18	12	4	0	0	0	0	0	0	0	2	0	2	3	6	4	2	3	6	3	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:35060693G>C	ENST00000373913.3	+	3	1053	c.573G>C	c.(571-573)ggG>ggC	p.G191G	DLGAP4_ENST00000339266.5_Silent_p.G191G|DLGAP4_ENST00000373907.2_Silent_p.G191G|DLGAP4_ENST00000401952.2_Silent_p.G191G			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	191					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAAGGCTGGGGAGCCCAAAC	0.677													4	52					0	0	0	0	C	35060693	G	C	35060693	2	2	443	1	0	0	0	0	0	0	0	1	4599	1219	43	4		4	DLGAP4	20	35060693	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	533764	35060693	27964827	529	87190											
RALGAPB	57148	broad.mit.edu	37	chr20	37182548	37182548	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattaaggagtggcatggcCcagcagattgcttatgaaat	14	10	11	6	0	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:37182548C>G	ENST00000262879.6	+	22	3485	c.3201C>G	c.(3199-3201)gcC>gcG	p.A1067A	RALGAPB_ENST00000397038.1_Silent_p.A845A|RALGAPB_ENST00000397040.1_Silent_p.A1067A|RALGAPB_ENST00000397042.3_Silent_p.A1063A			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1067					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGCATGGCCCAGCAGATTG	0.403													12	42					0	0	0	0	G	37182548	C	G	37182548	2	3	443	1	0	0	0	0	0	0	0	1	13097	610	22	4		4	RALGAPB	20	37182548	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2121855	37182548	25842972	530	87191											
PLCG1	5335	broad.mit.edu	37	chr20	39797792	39797792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagatggtcaaccccGtggccctggagccggagagg	9	5	17	10	2	1	2	1	0	0	2	1	6	1	4	4	6	2	0	4	6	2	0	rs66563620		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:39797792G>A	ENST00000373272.2	+	22	2962	c.2557G>A	c.(2557-2559)Gtg>Atg	p.V853M	PLCG1_ENST00000244007.3_Missense_Mutation_p.V853M|PLCG1_ENST00000373271.1_Missense_Mutation_p.V853M	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	853					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGTCAACCCCGTGGCCCTGGA	0.587													22	30					0	0	0	0	A	39797792	G	A	39797792	3	1	443	1	0	0	0	0	1	0	0	0	12107	1145	40	1	2643	1	PLCG1	20	39797792	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2615244	39797792	23227728	531	87192											
CHD6	84181	broad.mit.edu	37	chr20	40116420	40116420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctccacagagttctgcaagGgtgttccagtgagaagcact	10	9	11	11	0	1	2	0	1	1	2	3	3	3	2	3	1	2	4	3	1	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:40116420G>C	ENST00000373233.3	-	14	2063	c.1886C>G	c.(1885-1887)cCc>cGc	p.P629R	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	629	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTCTGCAAGGGTGTTCCAGT	0.428													7	61					0	0	0	0	C	40116420	G	C	40116420	3	2	443	1	0	0	0	0	1	0	0	0	3358	1232	43	4	6357	4	CHD6	20	40116420	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	318628	40116420	22909100	532	87193											
SERINC3	10955	broad.mit.edu	37	chr20	43132505	43132505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacagtccaataaaattatCtgaatccagtaaagacccac	19	8	4	10	0	1	2	0	1	1	1	3	2	3	2	3	0	1	1	3	0	8	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:43132505C>G	ENST00000342374.4	-	8	1163	c.1006G>C	c.(1006-1008)Gat>Cat	p.D336H	SERINC3_ENST00000541235.1_Missense_Mutation_p.D281H|SERINC3_ENST00000255175.1_Missense_Mutation_p.D336H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	336						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATAAAATTATCTGAATCCAGT	0.403													7	96					0	0	0	0	G	43132505	C	G	43132505	3	3	443	1	0	0	0	0	1	0	0	0	14168	913	32	2	427	2	SERINC3	20	43132505	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3016085	43132505	19893015	533	87194											
WFDC2	10406	broad.mit.edu	37	chr20	44108589	44108589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttctacccagataaggaGggttcctgcccccaggtgaa	9	11	10	11	0	1	2	0	1	1	1	2	3	2	3	4	3	2	1	4	3	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:44108589G>C	ENST00000342873.3	+	1	511	c.78G>C	c.(76-78)gaG>gaC	p.E26D	WFDC2_ENST00000372676.3_Missense_Mutation_p.E77D|WFDC2_ENST00000488143.1_3'UTR|WFDC2_ENST00000339946.3_Missense_Mutation_p.E29D			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	77					proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAGATAAGGAGGGTTCCTGCC	0.577													37	243					0	0	0	0	C	44108589	G	C	44108589	3	2	443	1	0	0	0	0	1	0	0	0	17448	991	35	4	241	4	WFDC2	20	44108589	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	976084	44108589	18916931	534	87195											
TMEM189	387521	broad.mit.edu	37	chr20	48744575	48744575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgcgatggtgtttacgtgGcaggatgacatgccagtcct	8	11	14	8	2	0	1	0	1	0	0	1	4	1	2	2	3	3	2	2	3	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:48744575G>C	ENST00000557021.1	-	5	788	c.628C>G	c.(628-630)Cca>Gca	p.P210A	TMEM189_ENST00000371652.4_Missense_Mutation_p.P210A|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.P210A|TMEM189_ENST00000371650.5_Missense_Mutation_p.P207A|TMEM189_ENST00000371656.2_Missense_Mutation_p.P135A	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TGTTTACGTGGCAGGATGACA	0.597													6	42					0	0	0	0	C	48744575	G	C	48744575	3	2	443	1	0	0	0	0	1	0	0	0	16205	1203	42	4	192	4	TMEM189	20	48744575	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4635986	48744575	14280945	535	87196											
ATP9A	10079	broad.mit.edu	37	chr20	50235319	50235319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggccagctccatgaaCtcgtactcatagtacttgag	10	10	10	11	1	1	2	1	2	0	0	3	2	2	2	2	2	4	4	2	2	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:50235319C>G	ENST00000338821.5	-	21	2496	c.2232G>C	c.(2230-2232)gaG>gaC	p.E744D	ATP9A_ENST00000311637.5_Missense_Mutation_p.E608D|ATP9A_ENST00000402822.1_Missense_Mutation_p.E623D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	744					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTCCATGAACTCGTACTCAT	0.647													10	49					0	0	0	0	G	50235319	C	G	50235319	3	3	443	1	0	0	0	0	1	0	0	0	1202	564	20	4	943	4	ATP9A	20	50235319	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1490744	50235319	12790201	536	87197											
PHACTR3	116154	broad.mit.edu	37	chr20	58342406	58342406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccccactgctgcccaCtccgccacccaaggcaagct	8	4	7	22	1	0	0	0	0	0	0	1	0	1	0	7	1	4	3	7	1	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:58342406C>G	ENST00000371015.1	+	5	1174	c.707C>G	c.(706-708)aCt>aGt	p.T236S	PHACTR3_ENST00000395636.2_Missense_Mutation_p.T195S|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T195S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T195S|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T233S	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	236	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGCTGCCCACTCCGCCACCC	0.592													14	40					0	0	0	0	G	58342406	C	G	58342406	3	3	443	1	0	0	0	0	1	0	0	0	11883	565	20	4	725	4	PHACTR3	20	58342406	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	8107087	58342406	4683114	537	87198											
COL9A3	1299	broad.mit.edu	37	chr20	61458596	61458596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctcatcctttccagggtGaccgaggcgagaggggccca	8	6	13	14	2	1	2	1	1	0	1	3	4	3	2	5	4	0	0	5	4	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:61458596G>C	ENST00000343916.3	+	16	799	c.796G>C	c.(796-798)Gac>Cac	p.D266H		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	266	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TTTCCAGGGTGACCGAGGCGA	0.642													10	40					0	0	0	0	C	61458596	G	C	61458596	3	2	443	1	0	0	0	0	1	0	0	0	3739	1290	45	2	858	2	COL9A3	20	61458596	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3116190	61458596	1566924	538	87199											
YTHDF1	54915	broad.mit.edu	37	chr20	61834856	61834856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtagctgctcccatacgCggagctctgggtctgctgac	5	10	14	12	2	2	1	0	1	2	0	3	2	3	2	1	3	5	5	1	3	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:61834856C>G	ENST00000370339.3	-	4	777	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P	YTHDF1_ENST00000370333.4_Missense_Mutation_p.A96P|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	146										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTCCCATACGCGGAGCTCTGG	0.592													12	54					0	0	0	0	G	61834856	C	G	61834856	3	3	443	1	0	0	0	0	1	0	0	0	17594	768	27	3	1251	3	YTHDF1	20	61834856	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	376260	61834856	1190664	539	87200											
BAGE2	85319	broad.mit.edu	37	chr21	11039132	11039132	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccaactgttcctcaggaCataatgaagtgctttcctca	12	12	6	11	0	2	1	2	1	0	0	4	2	4	2	3	1	3	2	3	1	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:11039132C>A	ENST00000470054.1	-	0	1071									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)		TTCCTCAGGACATAATGAAGT	0.403													22	265					1.87028e-06	2.00024e-06	1	0	A	11039132	C	A	11039132	1	1	443	0	1	0	0	0	0	0	0	0	1296	493	17	4		4	BAGE2	21	11039132	RNA	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		11039132	37090763	540	87201											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692245	31692245	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaagtagaggacatctcCacagctcacgctggtagggc	10	7	14	10	1	2	1	1	0	1	1	3	2	2	2	1	4	1	5	1	4	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:31692245C>A	ENST00000360542.3	-	1	362	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	37						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGACATCTCCACAGCTCACG	0.567													49	78					5.2432e-18	6.2812e-18	1	0	A	31692245	C	A	31692245	4	1	443	1	0	0	0	0	0	1	0	0	8596	603	21	4	527	4	KRTAP26-1	21	31692245	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	20653113	31692245	16437650	541	87202											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986109	31986110	+	Frame_Shift_Del	DEL	CA	CA	-																															cagtctgcggaagccacagcCacagcaggagccatagccac																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:31986109_31986110delCA	ENST00000329122.2	-	1	139_140	c.114_115delTG	c.(112-117)tggcfs	p.CG40fs		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	40						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						AAGCCACAGCCACAGCAGGAGC	0.589													82	124	---	---	---	---					-	31986110	CA	-	31986109	7	5	443	1	0	1	0	1	0	0	0	0	8622	594	21	0	104	0	KRTAP6-1	21	31986109	Frame_Shift_Del	DEL	CA	TCGA-KU-A66S-01A-21D-A30E-08	293864	31986109	16143786	542	87203											
SON	6651	broad.mit.edu	37	chr21	34927039	34927039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttccaaatcttctgaacaCaaatcacgcaagcgtaccag	14	8	6	13	3	3	1	1	1	2	0	4	1	4	1	2	0	3	3	2	0	5	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:34927039C>G	ENST00000356577.4	+	3	5977	c.5502C>G	c.(5500-5502)caC>caG	p.H1834Q	SON_ENST00000290239.6_Missense_Mutation_p.H1834Q|SON_ENST00000300278.4_Missense_Mutation_p.H1834Q|SON_ENST00000381679.4_Missense_Mutation_p.H1834Q|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1834					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTTCTGAACACAAATCACGCA	0.418													7	68					0	0	0	0	G	34927039	C	G	34927039	3	3	443	1	0	0	0	0	1	0	0	0	15014	477	17	4	5512	4	SON	21	34927039	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2940930	34927039	13202856	543	87204											
BRWD1	54014	broad.mit.edu	37	chr21	40627656	40627656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtagcaatctgactgcgtgGagcgttttgatgcatctgac	8	13	12	8	2	2	3	0	3	2	0	2	4	2	4	0	1	4	4	0	1	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:40627656G>C	ENST00000342449.3	-	19	2248	c.2170C>G	c.(2170-2172)Cca>Gca	p.P724A	BRWD1_ENST00000333229.2_Missense_Mutation_p.P724A|BRWD1_ENST00000380800.3_Missense_Mutation_p.P724A	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGACTGCGTGGAGCGTTTTGA	0.463													14	50					0	0	0	0	C	40627656	G	C	40627656	3	2	443	1	0	0	0	0	1	0	0	0	1533	1174	41	2	5127	2	BRWD1	21	40627656	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5700617	40627656	7502239	544	87205											
TMPRSS2	7113	broad.mit.edu	37	chr21	42866331	42866331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggctgcgtgcagacgaCggggttggaagcctgcgtca	6	9	17	9	4	1	1	1	0	0	1	1	3	1	2	1	4	4	3	1	4	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:42866331C>T	ENST00000398585.3	-	3	361	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.V64I|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.V64I	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	64					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTGCAGACGACGGGGTTGGAA	0.602			T	"ERG, ETV1, ETV4, ETV5"	prostate								24	37					0	0	0	0	T	42866331	C	T	42866331	3	4	443	1	0	0	0	0	1	0	0	0	16341	536	19	1	1336	1	TMPRSS2	21	42866331	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2238675	42866331	5263564	545	87206											
C2CD2	25966	broad.mit.edu	37	chr21	43327243	43327243	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagggggagggatgggccaGgatttcaattcaccaggttc	10	8	15	8	0	2	0	2	0	0	0	3	3	2	3	2	6	0	1	2	6	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:43327243G>C	ENST00000380486.3	-	10	1417	c.1176C>G	c.(1174-1176)tcC>tcG	p.S392S	C2CD2_ENST00000329623.7_Silent_p.S237S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	392						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGATGGGCCAGGATTTCAATT	0.512													4	45					0	0	0	0	C	43327243	G	C	43327243	2	2	443	1	0	0	0	0	0	0	0	1	2172	987	35	4		4	C2CD2	21	43327243	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	460912	43327243	4802652	546	87207											
PCNT	5116	broad.mit.edu	37	chr21	47831330	47831330	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctctgctcccaggccggGggccctcgtgggcaggccct	2	7	15	17	2	1	0	0	0	1	0	3	0	2	0	4	5	2	3	4	5	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:47831330G>T	ENST00000359568.5	+	28	5450	c.5343G>T	c.(5341-5343)ggG>ggT	p.G1781G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1781					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCCAGGCCGGGGGCCCTCGTG	0.697													23	27					1.50039e-11	1.69693e-11	1	0	T	47831330	G	T	47831330	2	4	443	1	0	0	0	0	0	0	0	1	11661	1219	43	4		4	PCNT	21	47831330	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4504087	47831330	298565	547	87208											
IL17RA	23765	broad.mit.edu	37	chr22	17589625	17589625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgtagtctgctacttcagcGaggtcagctgtgacggcgac	8	9	13	11	4	3	1	2	1	1	0	3	3	3	1	0	2	4	3	0	2	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:17589625G>C	ENST00000319363.6	+	13	1649	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	506	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.E506*(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTACTTCAGCGAGGTCAGCTG	0.627													5	27					0	0	0	0	C	17589625	G	C	17589625	3	2	443	1	0	0	0	0	1	0	0	0	7692	1059	37	3	1566	3	IL17RA	22	17589625	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08		17589625	33714941	548	87209											
PRODH	5625	broad.mit.edu	37	chr22	18909861	18909861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactcccagggtctctgcCgtgaaccagtcctcaatctc	8	9	8	16	1	3	1	1	1	2	0	7	2	5	1	4	1	2	0	4	1	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:18909861C>T	ENST00000357068.6	-	7	1171	c.906G>A	c.(904-906)acG>acA	p.T302T	PRODH_ENST00000420436.1_Silent_p.T194T|PRODH_ENST00000334029.2_Silent_p.T194T	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	302					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GGGTCTCTGCCGTGAACCAGT	0.577													9	12					0	0	0	0	T	18909861	C	T	18909861	2	4	443	1	0	0	0	0	0	0	0	1	12628	639	23	1		1	PRODH	22	18909861	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1320236	18909861	32394705	549	87210											
ZNF74	7625	broad.mit.edu	37	chr22	20761029	20761029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggagatgttcaactggagctCgcacctcactgagcaccaga	11	7	11	12	1	2	3	2	1	0	2	3	5	2	4	2	2	3	4	2	2	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:20761029C>G	ENST00000400451.2	+	5	2220	c.1706C>G	c.(1705-1707)tCg>tGg	p.S569W	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.S569W|ZNF74_ENST00000405993.1_Missense_Mutation_p.S537W|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	569				S -> P (in Ref. 5; BAH13068).	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AACTGGAGCTCGCACCTCACT	0.537													4	94					0	0	0	0	G	20761029	C	G	20761029	3	3	443	1	0	0	0	0	1	0	0	0	18221	893	31	3	1724	3	ZNF74	22	20761029	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1851168	20761029	30543537	550	87211											
BCR	613	broad.mit.edu	37	chr22	23603645	23603645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagctctacgagatccAcaaggagttctatgatgggc	10	9	12	10	1	2	3	0	2	2	1	3	5	3	4	2	2	2	2	2	2	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:23603645A>G	ENST00000305877.8	+	4	2421	c.1670A>G	c.(1669-1671)cAc>cGc	p.H557R	BCR_ENST00000359540.3_Missense_Mutation_p.H557R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	557	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TACGAGATCCACAAGGAGTTC	0.592			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								49	71					0	0	0	0	G	23603645	A	G	23603645	3	3	443	1	0	0	0	0	1	0	0	0	1392	159	6	5	1684	5	BCR	22	23603645	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	2842616	23603645	27700921	551	87212											
TBC1D10A	83874	broad.mit.edu	37	chr22	30691032	30691032	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggccttcagcacacggaaTaggtcctgctggctgtggag	8	9	14	10	1	1	0	1	0	0	0	2	2	2	2	2	5	2	3	2	5	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:30691032T>C	ENST00000215790.7	-	5	701	c.537A>G	c.(535-537)ctA>ctG	p.L179L	TBC1D10A_ENST00000403362.1_Silent_p.L91L|TBC1D10A_ENST00000403477.3_Silent_p.L186L|RP1-130H16.18_ENST00000447976.1_Silent_p.L53L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	179	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCACACGGAATAGGTCCTGCT	0.647													26	40					0	0	0	0	C	30691032	T	C	30691032	2	2	443	1	0	0	0	0	0	0	0	1	15689	1393	49	5		5	TBC1D10A	22	30691032	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	7087387	30691032	20613534	552	87213											
PES1	23481	broad.mit.edu	37	chr22	30975190	30975190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttttctgaaccagcCtctgcatcttcctcctcctc	4	15	3	19	0	3	1	0	1	3	0	9	1	8	1	7	0	3	1	7	0	1	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:30975190C>G	ENST00000402281.1	-	15	2029	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	PES1_ENST00000405677.1_Missense_Mutation_p.E346D|PES1_ENST00000402284.3_Missense_Mutation_p.E468D|PES1_ENST00000354694.6_Missense_Mutation_p.E485D|PES1_ENST00000335214.6_Missense_Mutation_p.E480D			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	485	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ctgaaccagcctctgcatctt	0.572													7	16					0	0	0	0	G	30975190	C	G	30975190	3	3	443	1	0	0	0	0	1	0	0	0	11804	680	24	4	323	4	PES1	22	30975190	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	284158	30975190	20329376	553	87214											
TCN2	6948	broad.mit.edu	37	chr22	31006904	31006904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagagaagttgggccagcaCctcttaccttggatggaccg	9	9	13	10	1	1	1	0	0	1	1	1	4	1	3	4	3	2	3	4	3	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:31006904C>G	ENST00000215838.3	+	2	605	c.111C>G	c.(109-111)caC>caG	p.H37Q	TCN2_ENST00000407817.3_Missense_Mutation_p.H37Q|TCN2_ENST00000405742.3_Missense_Mutation_p.H37Q			P20062	TCO2_HUMAN	transcobalamin II	37					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGCCAGCACCTCTTACCTT	0.537													18	159					0	0	0	0	G	31006904	C	G	31006904	3	3	443	1	0	0	0	0	1	0	0	0	15801	506	18	4	117	4	TCN2	22	31006904	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	31714	31006904	20297662	554	87215											
MORC2	22880	broad.mit.edu	37	chr22	31335616	31335616	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcactcaccgctgcttGgcctccttgatcctcttctt	3	14	7	17	1	3	1	1	1	2	0	5	1	5	1	5	2	1	3	5	2	0	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:31335616G>C	ENST00000215862.4	-	13	2242	c.879C>G	c.(877-879)gcC>gcG	p.A293A	MORC2_ENST00000397641.2_Silent_p.A355A|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	355							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ACCGCTGCTTGGCCTCCTTGA	0.498													3	32					0	0	0	0	C	31335616	G	C	31335616	2	2	443	1	0	0	0	0	0	0	0	1	9772	1335	47	4		4	MORC2	22	31335616	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	328712	31335616	19968950	555	87216											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962592	37962592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacccatcgctcaccccGcagcttcctggccaagaagc	9	5	9	18	2	1	1	1	0	0	1	3	2	2	1	5	1	3	4	5	1	2	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:37962592G>T	ENST00000249014.4	+	2	656	c.236G>T	c.(235-237)cGc>cTc	p.R79L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	79					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTCACCCCGCAGCTTCCTG	0.706													16	34					4.14922e-12	4.7229e-12	1	0	T	37962592	G	T	37962592	3	4	443	1	0	0	0	0	1	0	0	0	3104	1087	38	3	238	3	CDC42EP1	22	37962592	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6626976	37962592	13341974	556	87217											
SH3BP1	23616	broad.mit.edu	37	chr22	38040921	38040921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgcaggtcactgagctcGctggacacagccctggctga	8	7	12	14	2	1	2	1	2	0	0	3	3	1	3	1	3	2	4	1	3	0	0	rs142684855	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38040921G>A	ENST00000599616.1	+	7	540	c.540G>A	c.(538-540)tcG>tcA	p.S180S	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Silent_p.S244S|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Silent_p.S244S|SH3BP1_ENST00000336738.5_Silent_p.S244S			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	244	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CACTGAGCTCGCTGGACACAG	0.632													10	22					0	0	0	0	A	38040921	G	A	38040921	2	1	443	1	0	0	0	0	0	0	0	1	14331	1074	38	1		1	SH3BP1	22	38040921	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	78329	38040921	13263645	557	87218											
GCAT	23464	broad.mit.edu	37	chr22	38211679	38211679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctcagggggctacaCgacagggcctgggcccctgg	5	8	14	14	1	2	0	1	0	2	0	3	1	2	0	3	5	1	1	3	5	1	3	rs142256511		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38211679C>A	ENST00000323205.6	+	7	965	c.902C>A	c.(901-903)aCg>aAg	p.T301K	GCAT_ENST00000248924.6_Missense_Mutation_p.T275K	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	275					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGGGGCTACACGACAGGGCCT	0.662													6	136					5.9392e-07	6.42959e-07	1	0	A	38211679	C	A	38211679	3	1	443	1	0	0	0	0	1	0	0	0	6333	536	19	3	928	3	GCAT	22	38211679	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	170758	38211679	13092887	558	87219											
DDX17	10521	broad.mit.edu	37	chr22	38891843	38891843	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctttaggagcacctcCataaatacaagtactcttca	13	10	7	11	0	2	0	1	0	1	0	3	2	3	2	3	2	3	2	3	2	6	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38891843C>G	ENST00000396821.3	-	6	937	c.838G>C	c.(838-840)Gga>Cga	p.G280R	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.G201R	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	201	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GGAGCACCTCCATAAATACAA	0.418													5	97					0	0	0	0	G	38891843	C	G	38891843	3	3	443	1	0	0	0	0	1	0	0	0	4376	603	21	4	1389	4	DDX17	22	38891843	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	680164	38891843	12412723	559	87220											
WBP2NL	164684	broad.mit.edu	37	chr22	42418255	42418255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatttgtctttccagctGcccgaggatttccacttaga	9	13	7	12	1	1	1	0	0	1	1	3	3	3	2	4	1	2	1	4	1	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:42418255G>T	ENST00000328823.9	+	5	440	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.A63S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	137					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CTTTCCAGCTGCCCGAGGATT	0.373													23	56					7.41877e-09	8.22061e-09	1	0	T	42418255	G	T	42418255	3	4	443	1	0	0	0	0	1	0	0	0	17356	1319	46	4	427	4	WBP2NL	22	42418255	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3526412	42418255	8886311	560	87221											
TCF20	6942	broad.mit.edu	37	chr22	42606258	42606258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccctgcagcataaaggacGaggccgggagcgccttgctt	8	7	14	12	3	0	0	0	0	0	0	1	3	1	2	3	3	4	3	3	3	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:42606258G>A	ENST00000359486.3	-	1	5190	c.5054C>T	c.(5053-5055)tCg>tTg	p.S1685L	TCF20_ENST00000335626.4_Missense_Mutation_p.S1685L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATAAAGGACGAGGCCGGGAG	0.567													24	100					0	0	0	0	A	42606258	G	A	42606258	3	1	443	1	0	0	0	0	1	0	0	0	15784	1059	37	1	866	1	TCF20	22	42606258	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	188003	42606258	8698308	561	87222											
CYB5R3	1727	broad.mit.edu	37	chr22	43032843	43032843	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagactgggaagagcaccaTatggcccaactgaaacgaca	15	4	10	12	1	0	3	0	1	0	2	0	5	0	4	3	2	3	1	3	2	4	1	rs147001900	by1000genomes	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:43032843T>C	ENST00000396303.3	-	0	113				CYB5R3_ENST00000402438.1_De_novo_Start_OutOfFrame|CYB5R3_ENST00000361740.4_Missense_Mutation_p.M44V|CYB5R3_ENST00000407332.1_De_novo_Start_OutOfFrame|CYB5R3_ENST00000352397.5_Missense_Mutation_p.M11V|CYB5R3_ENST00000407623.3_De_novo_Start_OutOfFrame	NM_001171661.1|NM_007326.4	NP_001165132.1|NP_015565.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3						blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	AAGAGCACCATATGGCCCAAC	0.602													11	24					0	0	0	0	C	43032843	T	C	43032843	1	2	443	1	0	0	0	0	0	0	0	0	4160	1406	49	5		5	CYB5R3	22	43032843	Translation_Start_Site	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	426585	43032843	8271723	562	87223											
GTSE1	51512	broad.mit.edu	37	chr22	46712087	46712087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagcgggtcgatgtttctGagctggcagcggagcagctc	7	8	15	11	3	1	1	0	1	1	0	3	3	1	2	1	3	5	5	1	3	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:46712087G>C	ENST00000454366.1	+	7	1422	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	385					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGATGTTTCTGAGCTGGCAGC	0.672													6	62					0	0	0	0	C	46712087	G	C	46712087	3	2	443	1	0	0	0	0	1	0	0	0	6935	1291	45	2	1232	2	GTSE1	22	46712087	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3679244	46712087	4592479	563	87224											
FAM19A5	25817	broad.mit.edu	37	chr22	49103578	49103578	+	Frame_Shift_Del	DEL	G	G	-																															gacatgcttccgtgtctggaGggggaaggctgcgacttgtt																										TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:49103578delG	ENST00000358295.5	+	3	466	c.291delG	c.(289-291)gafs	p.E97fs	FAM19A5_ENST00000402357.1_Frame_Shift_Del_p.E104fs|FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_Frame_Shift_Del_p.E25fs	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	104						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGTGTCTGGAGGGGGAAGGCT	0.562													30	66	---	---	---	---					-	49103578	G	-	49103578	7	5	443	1	0	1	0	1	0	0	0	0	5578	991	35	0	417	0	FAM19A5	22	49103578	Frame_Shift_Del	DEL	G	TCGA-KU-A66S-01A-21D-A30E-08	2391491	49103578	2200988	564	87225											
ZBED1	9189	broad.mit.edu	37	chrX	2408484	2408484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcagcttggagaaggCggtggcgaaggcttcacgca	8	7	17	9	3	2	1	2	0	0	1	2	3	2	1	0	6	1	4	0	6	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:2408484C>T	ENST00000381223.4	-	2	480	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	ZBED1_ENST00000381222.2_Missense_Mutation_p.A93T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A93T|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	93						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGAGAAGGCGGTGGCGAAG	0.632													19	84					0	0	0	0	T	2408484	C	T	2408484	3	4	443	1	0	0	0	0	1	0	0	0	17613	768	27	1	1811	1	ZBED1	23	2408484	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08		2408484	152862076	565	87226											
STS	412	broad.mit.edu	37	chrX	7171343	7171343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacgacctcggcattGgagatcctgggtgctatggg	6	10	16	9	2	0	2	0	1	0	1	2	4	1	2	2	5	1	3	2	5	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:7171343G>C	ENST00000217961.4	+	2	338	c.118G>C	c.(118-120)Gga>Cga	p.G40R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	40					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCTCGGCATTGGAGATCCTGG	0.517									Ichthyosis				13	75					0	0	0	0	C	7171343	G	C	7171343	3	2	443	1	0	0	0	0	1	0	0	0	15422	1349	47	4	124	4	STS	23	7171343	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4762859	7171343	148099217	566	87227											
WWC3	55841	broad.mit.edu	37	chrX	10109515	10109515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggccaaggatcaacataCctcctctcccagccgacgac	12	5	7	17	2	2	0	1	0	1	0	4	3	3	1	5	2	3	0	5	2	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:10109515C>G	ENST00000380861.4	+	23	3644	c.3253C>G	c.(3253-3255)Cct>Gct	p.P1085A	WWC3_ENST00000454666.1_Missense_Mutation_p.P1085A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1085										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATCAACATACCTCCTCTCCC	0.458													4	53					0	0	0	0	G	10109515	C	G	10109515	3	3	443	1	0	0	0	0	1	0	0	0	17509	507	18	4	3339	4	WWC3	23	10109515	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2938172	10109515	145161045	567	87228											
TLR7	51284	broad.mit.edu	37	chrX	12904934	12904934	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgaataaaatatcaccttCaggagattcaagtgaagttg	16	11	9	5	0	3	3	3	2	0	1	3	4	3	3	1	1	0	1	1	1	6	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:12904934C>G	ENST00000380659.3	+	3	1446	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	436					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATATCACCTTCAGGAGATTCA	0.343													50	70					0	0	0	0	G	12904934	C	G	12904934	4	3	443	1	0	0	0	0	0	1	0	0	16050	838	29	2	1313	2	TLR7	23	12904934	Nonsense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2795419	12904934	142365626	568	87229											
BMX	660	broad.mit.edu	37	chrX	15548116	15548116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtttgctggtaacatctCcagatcacaatctgaacagt	11	12	8	10	0	3	2	1	1	2	1	4	2	3	2	1	2	3	3	1	2	3	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:15548116C>T	ENST00000357607.2	+	10	1093	c.905C>T	c.(904-906)tCc>tTc	p.S302F	BMX_ENST00000348343.6_Missense_Mutation_p.S302F|BMX_ENST00000342014.6_Missense_Mutation_p.S302F			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	302	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGTAACATCTCCAGATCACAA	0.353													10	18					0	0	0	0	T	15548116	C	T	15548116	3	4	443	1	0	0	0	0	1	0	0	0	1478	855	30	2	939	2	BMX	23	15548116	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2643182	15548116	139722444	569	87230											
MBTPS2	51360	broad.mit.edu	37	chrX	21886680	21886680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttactacactggagttgggGtgctcatcactgaagttgct	8	14	11	8	0	2	1	2	1	0	0	2	2	2	2	0	3	4	4	0	3	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:21886680G>C	ENST00000365779.2	+	6	847	c.766G>C	c.(766-768)Gtg>Ctg	p.V256L	MBTPS2_ENST00000379484.5_Missense_Mutation_p.V256L			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	256					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TGGAGTTGGGGTGCTCATCAC	0.398													8	227					0	0	0	0	C	21886680	G	C	21886680	3	2	443	1	0	0	0	0	1	0	0	0	9431	1261	44	4	788	4	MBTPS2	23	21886680	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6338564	21886680	133383880	570	87231											
SMS	6611	broad.mit.edu	37	chrX	21985363	21985363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtccattttccaggagcaGgggatggcggagtcggtgca	8	8	16	9	2	0	0	0	0	0	0	3	3	2	3	2	6	2	2	2	6	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:21985363G>T	ENST00000404933.2	+	2	351	c.99G>T	c.(97-99)caG>caT	p.Q33H	SMS_ENST00000415881.2_5'UTR|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000379404.1_Missense_Mutation_p.Q33H	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	33					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TCCAGGAGCAGGGGATGGCGG	0.512													23	43					5.45024e-15	6.37813e-15	1	0	T	21985363	G	T	21985363	3	4	443	1	0	0	0	0	1	0	0	0	14901	991	35	4	105	4	SMS	23	21985363	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	98683	21985363	133285197	571	87232											
ZNF645	158506	broad.mit.edu	37	chrX	22291390	22291390	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggatataaagtatgtccGcgctgtcgttatcctgtgct	7	14	11	9	4	0	0	0	0	0	0	4	1	2	1	2	1	1	4	2	1	5	4	rs148712606		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:22291390G>C	ENST00000323684.1	+	1	326	c.282G>C	c.(280-282)ccG>ccC	p.P94P		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	94						intracellular	zinc ion binding	p.P94P(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAGTATGTCCGCGCTGTCGTT	0.403													12	91					0	0	0	0	C	22291390	G	C	22291390	2	2	443	1	0	0	0	0	0	0	0	1	18156	1074	38	3		3	ZNF645	23	22291390	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	306027	22291390	132979170	572	87233											
CXorf58	254158	broad.mit.edu	37	chrX	23945485	23945485	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgcaagattatgtaCaagtaaggaatttagattta	16	13	7	5	0	1	2	1	0	0	2	1	3	1	3	1	1	2	3	1	1	8	7			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:23945485C>G	ENST00000379211.3	+	6	1102	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	185										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AGATTATGTACAAGTAAGGAA	0.323													27	54					0	0	0	0	G	23945485	C	G	23945485	3	3	443	1	0	0	0	0	1	0	0	0	4146	479	17	4	571	4	CXorf58	23	23945485	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1654095	23945485	131325075	573	87234											
PCYT1B	9468	broad.mit.edu	37	chrX	24665228	24665228	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaactactggcatggccaGtgaatgctccctctagctct	8	11	10	12	0	2	1	0	1	2	0	3	1	3	1	2	3	4	4	2	3	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:24665228G>T	ENST00000379144.2	-	0	125				PCYT1B_ENST00000379145.1_Intron|PCYT1B_ENST00000356768.4_De_novo_Start_InFrame	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta							endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGCATGGCCAGTGAATGCTCC	0.498													21	40					1.77063e-15	2.07895e-15	1	0	T	24665228	G	T	24665228	1	4	443	1	0	0	0	0	0	0	0	0	11682	1044	36	4		4	PCYT1B	23	24665228	Translation_Start_Site	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	719743	24665228	130605332	574	87235											
POLA1	5422	broad.mit.edu	37	chrX	24844670	24844670	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagtcgtggctcggatcTgtgaaccaatagacggaatt	11	9	11	10	3	1	2	0	1	1	1	3	4	1	4	2	3	1	1	2	3	4	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:24844670T>A	ENST00000379068.3	+	32	3731	c.3688T>A	c.(3688-3690)Tgt>Agt	p.C1230S	POLA1_ENST00000379059.3_Missense_Mutation_p.C1224S			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1224					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGCTCGGATCTGTGAACCAAT	0.522													8	12					0	0	0	0	A	24844670	T	A	24844670	3	1	443	1	0	0	0	0	1	0	0	0	12259	1580	55	5	3796	5	POLA1	23	24844670	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	179442	24844670	130425890	575	87236											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29938093	29938093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcatcttggggaacaGgaagtttccatctcattaat	13	11	10	7	0	2	0	1	0	2	0	4	3	3	3	1	4	2	2	1	4	4	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:29938093G>A	ENST00000378993.1	+	8	1612	c.939G>A	c.(937-939)caG>caA	p.Q313Q	IL1RAPL1_ENST00000302196.4_Silent_p.Q313Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	313	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGGGGAACAGGAAGTTTCCA	0.388													46	81					0	0	0	0	A	29938093	G	A	29938093	2	1	443	1	0	0	0	0	0	0	0	1	7714	991	35	4		4	IL1RAPL1	23	29938093	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	5093423	29938093	125332467	576	87237											
MAGEB2	4113	broad.mit.edu	37	chrX	30237576	30237576	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcctggagtttttggcCaaggtaaatggtaccacccc	11	10	10	10	0	0	0	0	0	0	0	1	1	1	1	5	4	1	3	5	4	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30237576C>G	ENST00000378988.4	+	2	980	c.879C>G	c.(877-879)gcC>gcG	p.A293A		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	293	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGTTTTTGGCCAAGGTAAATG	0.527													4	60					0	0	0	0	G	30237576	C	G	30237576	2	3	443	1	0	0	0	0	0	0	0	1	9245	581	21	4		4	MAGEB2	23	30237576	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	299483	30237576	125032984	577	87238											
NR0B1	190	broad.mit.edu	37	chrX	30327211	30327211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccttcggtgccgcgtaCgtttgctttgcgctcgtcag	2	12	14	13	7	1	0	1	0	0	0	3	0	1	0	2	2	4	4	2	2	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30327211C>T	ENST00000378970.4	-	1	504	c.270G>A	c.(268-270)acG>acA	p.T90T	NR0B1_ENST00000453287.1_Silent_p.T90T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	90	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GTGCCGCGTACGTTTGCTTTG	0.682													5	58					0	0	0	0	T	30327211	C	T	30327211	2	4	443	1	0	0	0	0	0	0	0	1	10684	523	19	1		1	NR0B1	23	30327211	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	89635	30327211	124943349	578	87239											
TAB3	257397	broad.mit.edu	37	chrX	30872791	30872791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtccttgttgatatggatGgggtggagtagttgaaggac	9	12	17	3	0	0	2	0	2	0	0	1	5	1	5	1	6	0	3	1	6	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30872791G>A	ENST00000378933.1	-	3	1168	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	TAB3_ENST00000378932.2_Missense_Mutation_p.H331Y|TAB3_ENST00000378930.3_Missense_Mutation_p.H331Y|TAB3_ENST00000288422.2_Missense_Mutation_p.H331Y|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	331	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGATATGGATGGGGTGGAGTA	0.468													33	44					0	0	0	0	A	30872791	G	A	30872791	3	1	443	1	0	0	0	0	1	0	0	0	15588	1348	47	4	1171	4	TAB3	23	30872791	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	545580	30872791	124397769	579	87240											
DMD	1756	broad.mit.edu	37	chrX	33146274	33146274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttactcaccagatgagacCtcagacatttcaaattctgc	12	13	5	11	0	4	3	3	1	1	3	4	4	4	3	2	0	2	0	2	0	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:33146274C>T	ENST00000378677.2	-	1	203	c.9G>A	c.(7-9)gaG>gaA	p.E3E	DMD_ENST00000288447.4_Intron|DMD_ENST00000357033.4_Intron	NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2	NP_004000.1|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	0	Actin-binding.				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			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)				CAGATGAGACCTCAGACATTT	0.428													5	8					0	0	0	0	T	33146274	C	T	33146274	2	4	443	1	0	0	0	0	0	0	0	1	4617	680	24	4		4	DMD	23	33146274	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2273483	33146274	122124286	580	87241											
FAM47A	158724	broad.mit.edu	37	chrX	34149858	34149858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccacagggatgtttacCaggctcagtgggtacctctg	7	11	11	12	0	2	0	1	0	1	0	3	1	3	1	4	3	2	3	4	3	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:34149858C>A	ENST00000346193.3	-	1	589	c.538G>T	c.(538-540)Ggt>Tgt	p.G180C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	180	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGATGTTTACCAGGCTCAGTG	0.582													35	43					3.21399e-22	3.94369e-22	1	0	A	34149858	C	A	34149858	3	1	443	1	0	0	0	0	1	0	0	0	5616	594	21	4	1841	4	FAM47A	23	34149858	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1003584	34149858	121120702	581	87242											
FAM47A	158724	broad.mit.edu	37	chrX	34150316	34150316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcacttcgcgaagcacttgGaaggccgtttgttacagtac	9	11	11	10	3	0	0	0	0	0	0	1	2	0	1	1	2	4	5	1	2	4	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:34150316G>C	ENST00000346193.3	-	1	131	c.80C>G	c.(79-81)tCc>tGc	p.S27C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	27										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAAGCACTTGGAAGGCCGTTT	0.617													4	97					0	0	0	0	C	34150316	G	C	34150316	3	2	443	1	0	0	0	0	1	0	0	0	5616	1174	41	2	2299	2	FAM47A	23	34150316	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	458	34150316	121120244	582	87243											
XK	7504	broad.mit.edu	37	chrX	37545253	37545253	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggcgtccgtgttcctGttcgtggccgagacaacggc	4	10	15	12	5	0	1	0	0	0	1	3	2	2	1	3	3	2	3	3	3	1	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:37545253G>C	ENST00000378616.3	+	1	242	c.39G>C	c.(37-39)ctG>ctC	p.L13L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	13					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CCGTGTTCCTGTTCGTGGCCG	0.692													10	13					0	0	0	0	C	37545253	G	C	37545253	2	2	443	1	0	0	0	0	0	0	0	1	17527	1364	48	4		4	XK	23	37545253	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3394937	37545253	117725307	583	87244											
CFP	5199	broad.mit.edu	37	chrX	47487641	47487641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagagcacgtcaccgaacagGgggcccatgtggaccacagg	11	3	14	13	2	1	1	1	0	0	1	1	3	1	2	3	4	2	1	3	4	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:47487641G>T	ENST00000247153.3	-	4	504	c.263C>A	c.(262-264)cCc>cAc	p.P88H	CFP_ENST00000377005.2_Missense_Mutation_p.P88H|CFP_ENST00000396992.3_Missense_Mutation_p.P88H|CFP_ENST00000480317.1_5'UTR	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	88	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CACCGAACAGGGGGCCCATGT	0.622													14	15					6.31663e-08	6.89087e-08	1	0	T	47487641	G	T	47487641	3	4	443	1	0	0	0	0	1	0	0	0	3322	1232	43	4	1174	4	CFP	23	47487641	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	9942388	47487641	107782919	584	87245											
CCDC120	90060	broad.mit.edu	37	chrX	48924782	48924782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcttcccccgggcggacCctgcctccgatcgcgcctcc	2	7	12	20	5	0	0	0	0	0	0	4	2	3	1	7	3	1	1	7	3	0	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:48924782C>A	ENST00000376396.3	+	10	1246	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	CCDC120_ENST00000422185.2_Missense_Mutation_p.P343T|CCDC120_ENST00000603986.1_Missense_Mutation_p.P378T|CCDC120_ENST00000597275.1_Missense_Mutation_p.P343T|CCDC120_ENST00000536628.2_Missense_Mutation_p.P331T|CCDC120_ENST00000496529.2_Missense_Mutation_p.P343T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	343							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCGGGCGGACCCTGCCTCCGA	0.677													26	34					4.47668e-21	5.46464e-21	1	0	A	48924782	C	A	48924782	3	1	443	1	0	0	0	0	1	0	0	0	2781	623	22	4	1057	4	CCDC120	23	48924782	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1437141	48924782	106345778	585	87246											
WDR45	11152	broad.mit.edu	37	chrX	48935372	48935372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggagcggtgcagcatCtccaccaagcccatgctgcc	8	7	12	14	1	1	0	0	0	1	0	2	1	1	1	4	3	6	4	4	3	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:48935372C>A	ENST00000356463.3	-	5	603	c.165G>T	c.(163-165)gaG>gaT	p.E55D	WDR45_ENST00000376372.3_Missense_Mutation_p.E55D|WDR45_ENST00000322995.8_Missense_Mutation_p.E55D|WDR45_ENST00000396681.4_Missense_Mutation_p.E55D|WDR45_ENST00000473974.1_Missense_Mutation_p.E55D|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000485908.1_Intron|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.E55D	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	55					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGTGCAGCATCTCCACCAAGC	0.612													6	12					0.00116845	0.00121299	1	0	A	48935372	C	A	48935372	3	1	443	1	0	0	0	0	1	0	0	0	17393	912	32	2	952	2	WDR45	23	48935372	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	10590	48935372	106335188	586	87247											
MAGIX	79917	broad.mit.edu	37	chrX	49022442	49022442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccagatcgcagcccagatCctggagggccggaggtaacg	9	4	16	12	3	0	2	0	0	0	2	2	4	1	4	4	5	2	2	4	5	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:49022442C>G	ENST00000376338.3	+	4	611	c.532C>G	c.(532-534)Cct>Gct	p.P178A	MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000412696.2_Missense_Mutation_p.P237A|MAGIX_ENST00000425661.2_Missense_Mutation_p.P161A|MAGIX_ENST00000376339.1_Missense_Mutation_p.P173A			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	237	PDZ.																CAGCCCAGATCCTGGAGGGCC	0.612													5	85					0	0	0	0	G	49022442	C	G	49022442	3	3	443	1	0	0	0	0	1	0	0	0	9262	855	30	2	771	2	MAGIX	23	49022442	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	87070	49022442	106248118	587	87248											
CACNA1F	778	broad.mit.edu	37	chrX	49083523	49083523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcttcctccatctgCtgcttctcccgctgcttctg	2	14	8	17	2	4	0	0	0	4	0	7	0	6	0	3	1	3	5	3	1	0	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:49083523C>A	ENST00000376265.2	-	9	1246	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q330H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q395H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	395	Binding to the beta subunit (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTCCATCTGCTGCTTCTCCC	0.597													5	13					5.9392e-07	6.42959e-07	1	0	A	49083523	C	A	49083523	3	1	443	1	0	0	0	0	1	0	0	0	2568	796	28	4	4908	4	CACNA1F	23	49083523	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	61081	49083523	106187037	588	87249											
DGKK	139189	broad.mit.edu	37	chrX	50213567	50213567	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagccggcggcggagcCggtggtggtggcggcggcgg	2	3	26	10	8	0	0	0	0	0	0	0	2	0	2	2	12	2	0	2	12	0	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:50213567C>T	ENST00000376025.2	-	0	170							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					gcggcggagccggtggtggtg	0.721													7	31					0	0	0	0	T	50213567	C	T	50213567	1	4	443	0	1	0	0	0	0	0	0	0	4509	639	23	1		1	DGKK	23	50213567	RNA	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1130044	50213567	105056993	589	87250											
HSD17B10	3028	broad.mit.edu	37	chrX	53458383	53458383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgaatggccccatccagcCggatgacctctccattgagg	9	8	10	14	2	1	2	0	2	1	0	3	4	2	3	6	3	2	0	6	3	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:53458383C>A	ENST00000168216.6	-	6	782	c.755G>T	c.(754-756)cGg>cTg	p.R252L	HSD17B10_ENST00000375298.4_3'UTR|HSD17B10_ENST00000375304.5_Missense_Mutation_p.R243L	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	252					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	CCCATCCAGCCGGATGACCTC	0.572													13	19					4.3838e-07	4.76032e-07	1	0	A	53458383	C	A	53458383	3	1	443	1	0	0	0	0	1	0	0	0	7429	652	23	3	34	3	HSD17B10	23	53458383	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3244816	53458383	101812177	590	87251											
ZXDA	7789	broad.mit.edu	37	chrX	57935135	57935135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctagctgagctaagaGatcctggcccaccttatgcc	8	11	9	13	0	1	2	0	1	1	1	2	3	2	2	4	1	4	3	4	1	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:57935135G>T	ENST00000358697.4	-	1	1932	c.1720C>A	c.(1720-1722)Ctc>Atc	p.L574I		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	574	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGAGCTAAGAGATCCTGGCCC	0.463													40	71					1.86277e-20	2.25829e-20	1	0	T	57935135	G	T	57935135	3	4	443	1	0	0	0	0	1	0	0	0	18341	942	33	2	683	2	ZXDA	23	57935135	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4476752	57935135	97335425	591	87252											
SNX12	29934	broad.mit.edu	37	chrX	70281697	70281697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaacttggcttacttgtTaataaactgctcgaggccct	10	12	9	10	1	0	0	0	0	0	0	1	2	0	1	1	3	4	3	1	3	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:70281697T>C	ENST00000374274.3	-	3	498	c.382A>G	c.(382-384)Aac>Gac	p.N128D	SNX12_ENST00000276105.3_Missense_Mutation_p.N124D|SNX12_ENST00000465030.1_Intron	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	128	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GCTTACTTGTTAATAAACTGC	0.438													17	22					0	0	0	0	C	70281697	T	C	70281697	3	2	443	1	0	0	0	0	1	0	0	0	14971	1754	61	5	114	5	SNX12	23	70281697	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	12346562	70281697	84988863	592	87253											
CXCR3	2833	broad.mit.edu	37	chrX	70837232	70837232	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagtcactctcgttttcTccatagtcataggaagagct	10	12	8	11	2	4	1	2	0	2	1	6	3	4	2	1	1	1	2	1	1	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:70837232T>C	ENST00000373691.4	-	2	394	c.231A>G	c.(229-231)ggA>ggG	p.G77G	CXCR3_ENST00000373693.3_Silent_p.G30G	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	30					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TCTCGTTTTCTCCATAGTCAT	0.602													13	33					0	0	0	0	C	70837232	T	C	70837232	2	2	443	1	0	0	0	0	0	0	0	1	4124	1538	54	5		5	CXCR3	23	70837232	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	555535	70837232	84433328	593	87254											
PHKA1	5255	broad.mit.edu	37	chrX	71800902	71800902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctgcacgtaggtggCggctgccttggagaggtagg	7	8	17	9	2	0	1	0	0	0	1	1	3	1	1	2	6	3	4	2	6	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:71800902C>T	ENST00000373545.3	-	32	3934	c.3496G>A	c.(3496-3498)Gcc>Acc	p.A1166T	PHKA1_ENST00000339490.3_Missense_Mutation_p.A1195T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A1136T|PHKA1_ENST00000373542.4_Missense_Mutation_p.A1208T|PHKA1_ENST00000373539.3_Missense_Mutation_p.A1225T			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1208					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTAGGTGGCGGCTGCCTTG	0.572													9	23					0	0	0	0	T	71800902	C	T	71800902	3	4	443	1	0	0	0	0	1	0	0	0	11915	768	27	1	53	1	PHKA1	23	71800902	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	963670	71800902	83469658	594	87255											
FAM46D	169966	broad.mit.edu	37	chrX	79698352	79698352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgttaaagatgcagttcTagactgtctacttgactttt	9	17	9	6	0	2	3	0	1	2	2	2	3	2	3	0	1	2	4	0	1	4	8			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:79698352T>C	ENST00000538312.1	+	5	648	c.314T>C	c.(313-315)cTa>cCa	p.L105P	FAM46D_ENST00000308293.5_Missense_Mutation_p.L105P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	105										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GATGCAGTTCTAGACTGTCTA	0.398													41	67					0	0	0	0	C	79698352	T	C	79698352	3	2	443	1	0	0	0	0	1	0	0	0	5615	1522	53	5	316	5	FAM46D	23	79698352	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	7897450	79698352	75572208	595	87256											
HMGN5	79366	broad.mit.edu	37	chrX	80374256	80374256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctggcagatcttctcttTggctataagttaaaaacaaa	15	12	6	8	0	2	1	0	0	2	1	3	1	2	1	1	2	2	3	1	2	7	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:80374256T>C	ENST00000358130.2	-	4	376	c.48A>G	c.(46-48)ccA>ccG	p.P16P	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	16					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						ATCTTCTCTTTGGCTATAAGT	0.289													6	14					0	0	0	0	C	80374256	T	C	80374256	2	2	443	1	0	0	0	0	0	0	0	1	7288	1799	63	5		5	HMGN5	23	80374256	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	675904	80374256	74896304	596	87257											
ZNF711	7552	broad.mit.edu	37	chrX	84520163	84520163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagagtgagtacaccagtgGacattcagtagctggagtgc	12	8	14	7	0	1	2	1	1	0	1	1	5	1	4	1	2	3	3	1	2	2	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:84520163G>T	ENST00000360700.4	+	6	1704	c.818G>T	c.(817-819)gGa>gTa	p.G273V	ZNF711_ENST00000542798.1_Missense_Mutation_p.G69V|ZNF711_ENST00000395402.1_Missense_Mutation_p.G251V|ZNF711_ENST00000373165.3_Missense_Mutation_p.G273V|ZNF711_ENST00000276123.3_Missense_Mutation_p.G273V			Q9Y462	ZN711_HUMAN	zinc finger protein 711	273					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TACACCAGTGGACATTCAGTA	0.388													24	36					4.16121e-05	4.38413e-05	1	0	T	84520163	G	T	84520163	3	4	443	1	0	0	0	0	1	0	0	0	18211	1174	41	2	832	2	ZNF711	23	84520163	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4145907	84520163	70750397	597	87258											
KLHL4	56062	broad.mit.edu	37	chrX	86919875	86919875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtggttggaggatatgaCggacatacttatttgaacac	12	12	11	6	2	0	2	0	2	0	0	0	5	0	5	0	4	3	1	0	4	5	6	rs150763346	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:86919875C>A	ENST00000373119.4	+	10	2182	c.2037C>A	c.(2035-2037)gaC>gaA	p.D679E	KLHL4_ENST00000373114.4_Missense_Mutation_p.D679E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	679						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAGGATATGACGGACATACTT	0.403													10	30					3.07112e-06	3.27463e-06	1	0	A	86919875	C	A	86919875	3	1	443	1	0	0	0	0	1	0	0	0	8443	535	19	3	2075	3	KLHL4	23	86919875	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	2399712	86919875	68350685	598	87259											
TMEM35	59353	broad.mit.edu	37	chrX	100334069	100334069	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttcatggggactatCaagctgacccccaggctcag	8	12	10	11	0	3	1	3	1	0	0	3	2	3	2	2	3	1	3	2	3	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100334069C>A	ENST00000372930.4	+	1	361	c.78C>A	c.(76-78)atC>atA	p.I26I		NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	26						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TGGGGACTATCAAGCTGACCC	0.567													20	21					4.96729e-08	5.45247e-08	1	0	A	100334069	C	A	100334069	2	1	443	1	0	0	0	0	0	0	0	1	16251	816	29	2		2	TMEM35	23	100334069	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	13414194	100334069	54936491	599	87260											
BTK	695	broad.mit.edu	37	chrX	100608882	100608882	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaaatgtcagatttgcTgctgaacttgctatacatca	12	12	7	10	0	2	2	2	1	0	1	2	2	2	2	1	0	6	3	1	0	4	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100608882T>A	ENST00000308731.7	-	17	1889	c.1726A>T	c.(1726-1728)Agc>Tgc	p.S576C	BTK_ENST00000372880.1_Missense_Mutation_p.S400C	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	576	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAGATTTGCTGCTGAACTTG	0.433									Agammaglobulinemia, X-linked				48	84					0	0	0	0	A	100608882	T	A	100608882	3	1	443	1	0	0	0	0	1	0	0	0	1566	1580	55	5	265	5	BTK	23	100608882	Missense_Mutation	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	274813	100608882	54661678	600	87261											
ARMCX2	9823	broad.mit.edu	37	chrX	100912204	100912204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctactgattcggccttaggcCcaaccccggctccatctgcc	6	9	8	18	2	1	1	0	1	1	0	3	1	2	1	6	3	3	1	6	3	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100912204C>T	ENST00000328766.5	-	5	824	c.371G>A	c.(370-372)gGg>gAg	p.G124E	ARMCX2_ENST00000330154.2_Missense_Mutation_p.G124E|ARMCX2_ENST00000356824.4_Missense_Mutation_p.G124E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	124	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GGCCTTAGGCCCAACCCCGGC	0.637													30	57					0	0	0	0	T	100912204	C	T	100912204	3	4	443	1	0	0	0	0	1	0	0	0	964	623	22	4	1531	4	ARMCX2	23	100912204	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	303322	100912204	54358356	601	87262											
KLHL13	90293	broad.mit.edu	37	chrX	117033123	117033123	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactctgccctcttaacatGgcagcaattggggtccactg	8	11	9	13	0	3	0	1	0	2	0	4	0	4	0	2	3	3	2	2	3	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:117033123G>T	ENST00000371876.1	-	6	3984	c.1563C>A	c.(1561-1563)gcC>gcA	p.A521A	KLHL13_ENST00000541812.1_Silent_p.A556A|KLHL13_ENST00000469946.1_Silent_p.A521A|KLHL13_ENST00000540167.1_Silent_p.A556A|KLHL13_ENST00000539496.1_Silent_p.A575A|KLHL13_ENST00000371882.1_Silent_p.A521A|KLHL13_ENST00000545703.1_Silent_p.A530A|KLHL13_ENST00000262820.3_Silent_p.A572A|KLHL13_ENST00000371878.1_Silent_p.A521A			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	572					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTCTTAACATGGCAGCAATTG	0.433													34	169					1.45844e-13	1.67898e-13	1	0	T	117033123	G	T	117033123	2	4	443	1	0	0	0	0	0	0	0	1	8421	1335	47	4		4	KLHL13	23	117033123	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	16120919	117033123	38237437	602	87263											
KIAA1210	57481	broad.mit.edu	37	chrX	118221721	118221721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctttaagaactgggtagCatattggggaggcaatggac	11	10	13	7	0	1	1	0	0	1	1	1	3	1	3	1	5	2	3	1	5	5	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:118221721C>G	ENST00000402510.2	-	11	3471	c.3472G>C	c.(3472-3474)Gct>Cct	p.A1158P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1158										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AACTGGGTAGCATATTGGGGA	0.473													30	40					0	0	0	0	G	118221721	C	G	118221721	3	3	443	1	0	0	0	0	1	0	0	0	8265	710	25	4	1673	4	KIAA1210	23	118221721	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1188598	118221721	37048839	603	87264											
NKAP	79576	broad.mit.edu	37	chrX	119077437	119077437	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggaccgagagcaagagtgCgagcgagagcggcggccccg	9	1	18	13	7	0	3	0	0	0	3	0	7	0	4	4	3	4	1	4	3	1	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:119077437C>A	ENST00000371410.3	-	1	298	c.132G>T	c.(130-132)tcG>tcT	p.S44S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	44	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AGCAAGAGTGCGAGCGAGAGC	0.677													14	24					6.72482e-11	7.56944e-11	1	0	A	119077437	C	A	119077437	2	1	443	1	0	0	0	0	0	0	0	1	10509	755	27	3		3	NKAP	23	119077437	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	855716	119077437	36193123	604	87265											
GRIA3	2892	broad.mit.edu	37	chrX	122538684	122538684	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcaaatacaaattgtcCatcgttggtgacgggaaata	15	10	10	6	2	1	1	1	1	0	0	3	3	2	3	1	3	1	1	1	3	5	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:122538684C>A	ENST00000264357.5	+	10	1711	c.1419C>A	c.(1417-1419)tcC>tcA	p.S473S	GRIA3_ENST00000371251.1_Silent_p.S473S|GRIA3_ENST00000371256.5_Silent_p.S473S|GRIA3_ENST00000542149.1_Silent_p.S473S|GRIA3_ENST00000541091.1_Silent_p.S457S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	473					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAAATTGTCCATCGTTGGTG	0.418													61	109					5.73332e-34	7.14646e-34	1	0	A	122538684	C	A	122538684	2	1	443	1	0	0	0	0	0	0	0	1	6819	581	21	4		4	GRIA3	23	122538684	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3461247	122538684	32731876	605	87266											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298905	125298905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttctgctggcgctggcGcggatccaggaaggagacgt	7	8	17	9	4	1	1	0	0	1	1	2	5	2	3	1	5	1	3	1	5	1	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:125298905G>C	ENST00000538699.1	-	2	1083	c.1003C>G	c.(1003-1005)Cgc>Ggc	p.R335G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R335G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335C(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGCGCTGGCGCGGATCCAGG	0.627													7	121					0	0	0	0	C	125298905	G	C	125298905	3	2	443	1	0	0	0	0	1	0	0	0	4298	1087	38	3	392	3	DCAF12L2	23	125298905	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	2760221	125298905	29971655	606	87267											
BCORL1	63035	broad.mit.edu	37	chrX	129156925	129156925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgactttattcctgtggttCtgagcacccgcacgcgcagt	6	12	11	12	3	1	2	0	2	1	0	2	2	2	2	2	1	1	4	2	1	1	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129156925C>G	ENST00000540052.1	+	5	3705	c.3661C>G	c.(3661-3663)Ctg>Gtg	p.L1221V	BCORL1_ENST00000359304.2_Missense_Mutation_p.L1221V|BCORL1_ENST00000218147.7_Missense_Mutation_p.L1221V|BCORL1_ENST00000303743.5_Missense_Mutation_p.L1221V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1221					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCTGTGGTTCTGAGCACCCG	0.483													13	148					0	0	0	0	G	129156925	C	G	129156925	3	3	443	1	0	0	0	0	1	0	0	0	1391	912	32	2	3679	2	BCORL1	23	129156925	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	3858020	129156925	26113635	607	87268											
AIFM1	9131	broad.mit.edu	37	chrX	129272623	129272623	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggaagcccccaccgataatCgtaattgatttgacttcccg	11	10	8	12	3	0	2	0	2	0	0	2	4	1	3	4	1	1	1	4	1	3	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129272623C>G	ENST00000287295.3	-	9	1142	c.912G>C	c.(910-912)acG>acC	p.T304T	AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000535724.1_Silent_p.T217T|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	304	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CACCGATAATCGTAATTGATT	0.433													20	94					0	0	0	0	G	129272623	C	G	129272623	2	3	443	1	0	0	0	0	0	0	0	1	426	871	31	3		3	AIFM1	23	129272623	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	115698	129272623	25997937	608	87269											
SLC25A14	9016	broad.mit.edu	37	chrX	129480563	129480563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacacgacttcaggttcaagGccaaagcattgatgcccgtt	12	9	9	11	2	2	1	2	1	0	0	2	2	2	1	2	2	3	3	2	2	3	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129480563G>A	ENST00000543953.1	+	3	159	c.110G>A	c.(109-111)gGc>gAc	p.G37D	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.G69D|SLC25A14_ENST00000339231.3_Missense_Mutation_p.G69D|SLC25A14_ENST00000218197.5_Missense_Mutation_p.G72D|SLC25A14_ENST00000545805.1_Missense_Mutation_p.G72D			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	72					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CAGGTTCAAGGCCAAAGCATT	0.403													50	49					0	0	0	0	A	129480563	G	A	129480563	3	1	443	1	0	0	0	0	1	0	0	0	14564	1203	42	4	225	4	SLC25A14	23	129480563	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	207940	129480563	25789997	609	87270											
ARHGAP36	158763	broad.mit.edu	37	chrX	130218248	130218248	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagccctgctgctgcagacCctgcagctttcaaaaatttc	9	10	9	13	0	1	1	1	0	0	1	2	2	1	2	2	1	6	5	2	1	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:130218248C>A	ENST00000276211.5	+	5	960	c.615C>A	c.(613-615)acC>acA	p.T205T	ARHGAP36_ENST00000370922.1_Silent_p.T193T|ARHGAP36_ENST00000370921.1_Silent_p.T69T	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	205					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			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						TGCTGCAGACCCTGCAGCTTT	0.473													8	41					0.000274275	0.000285569	1	0	A	130218248	C	A	130218248	2	1	443	1	0	0	0	0	0	0	0	1	885	610	22	4		4	ARHGAP36	23	130218248	Silent	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	737685	130218248	25052312	610	87271											
IGSF1	3547	broad.mit.edu	37	chrX	130411898	130411898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtttttcagtgtgagtgCggcagctgtaattgccttcg	5	14	14	8	3	1	1	1	1	0	0	2	1	1	1	1	2	3	4	1	2	1	5			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:130411898C>T	ENST00000370904.1	-	19	3135	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	IGSF1_ENST00000370903.3_Missense_Mutation_p.R756H|IGSF1_ENST00000370910.1_Missense_Mutation_p.R742H|IGSF1_ENST00000361420.3_Missense_Mutation_p.R751H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	751	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTGTGAGTGCGGCAGCTGTA	0.512													28	58					0	0	0	0	T	130411898	C	T	130411898	3	4	443	1	0	0	0	0	1	0	0	0	7649	768	27	1	1790	1	IGSF1	23	130411898	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	193650	130411898	24858662	611	87272											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatacttccacattcacctGggggggtgcatccacacttg	9	10	10	12	0	1	0	1	0	0	0	3	1	3	0	3	3	2	1	3	3	2	4			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:135314194G>C	ENST00000316077.9	-	8	1142	c.922C>G	c.(922-924)Cag>Gag	p.Q308E	MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273E|MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532													8	258					0	0	0	0	C	135314194	G	C	135314194	3	2	443	1	0	0	0	0	1	0	0	0	9338	1357	47	4	1752	4	MAP7D3	23	135314194	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	4902296	135314194	19956366	612	87273											
CXorf66	347487	broad.mit.edu	37	chrX	139040246	139040246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctttggacgcatcatcGctcagacaattataatggag	11	11	9	10	2	2	1	2	0	0	1	3	3	2	3	1	2	1	3	1	2	3	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:139040246G>A	ENST00000370540.1	-	2	242	c.219C>T	c.(217-219)agC>agT	p.S73S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	73						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACGCATCATCGCTCAGACAAT	0.348													147	214					0	0	0	0	A	139040246	G	A	139040246	2	1	443	1	0	0	0	0	0	0	0	1	4150	1078	38	1		1	CXorf66	23	139040246	Silent	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3726052	139040246	16230314	613	87274											
MAGEC1	9947	broad.mit.edu	37	chrX	140994721	140994721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttttgagggttttcccCagtctcctctccagattcct	5	16	7	13	0	2	2	0	1	2	1	6	2	4	2	5	1	1	2	5	1	1	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:140994721C>A	ENST00000285879.4	+	4	1817	c.1531C>A	c.(1531-1533)Cag>Aag	p.Q511K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	511							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTCCCCAGTCTCCTCT	0.507										HNSCC(15;0.026)			81	170					5.88917e-42	7.4191e-42	1	0	A	140994721	C	A	140994721	3	1	443	1	0	0	0	0	1	0	0	0	9249	595	21	4	1537	4	MAGEC1	23	140994721	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	1954475	140994721	14275839	614	87275											
SLITRK2	84631	broad.mit.edu	37	chrX	144905889	144905889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcttgaaacgccgaaaggGagtgccgagcgttcccagga	10	7	14	10	4	1	1	0	1	1	0	2	5	2	3	3	2	3	1	3	2	2	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:144905889G>T	ENST00000370490.1	+	1	6201	c.1946G>T	c.(1945-1947)gGa>gTa	p.G649V	SLITRK2_ENST00000434188.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G649V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	649						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCGAAAGGGAGTGCCGAGC	0.443													60	102					7.37877e-41	9.27917e-41	1	0	T	144905889	G	T	144905889	3	4	443	1	0	0	0	0	1	0	0	0	14831	1174	41	2	1948	2	SLITRK2	23	144905889	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	3911168	144905889	10364671	615	87276											
SLITRK2	84631	broad.mit.edu	37	chrX	144906109	144906109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagagttcagctatagcaaCctggaggagaaaaaagaaga	19	5	11	6	0	1	4	1	0	0	4	1	6	1	5	1	2	3	3	1	2	8	3			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:144906109C>A	ENST00000370490.1	+	1	6421	c.2166C>A	c.(2164-2166)aaC>aaA	p.N722K	SLITRK2_ENST00000434188.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N722K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	722						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCTATAGCAACCTGGAGGAGA	0.517													51	120					8.00217e-19	9.63526e-19	1	0	A	144906109	C	A	144906109	3	1	443	1	0	0	0	0	1	0	0	0	14831	506	18	4	2168	4	SLITRK2	23	144906109	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	220	144906109	10364451	616	87277											
GABRQ	55879	broad.mit.edu	37	chrX	151821301	151821301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgaaatccgcaaccgtGtcgaagcccatggccatggt	10	7	10	14	4	0	0	0	0	0	0	2	2	1	0	5	2	3	1	5	2	4	1			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:151821301G>T	ENST00000370306.2	+	9	1476	c.1456G>T	c.(1456-1458)Gtc>Ttc	p.V486F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	486						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAACCGTGTCGAAGCCCA	0.552													7	169					0.000157383	0.000164833	1	0	T	151821301	G	T	151821301	3	4	443	1	0	0	0	0	1	0	0	0	6223	1377	48	4	1490	4	GABRQ	23	151821301	Missense_Mutation	SNP	G	TCGA-KU-A66S-01A-21D-A30E-08	6915192	151821301	3449259	617	87278											
L1CAM	3897	broad.mit.edu	37	chrX	153134304	153134304	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagacactcaccactgaacActgggcacaggcgctccgaa	12	4	10	15	3	1	2	1	1	0	1	2	4	2	2	2	2	1	2	2	2	2	0			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:153134304A>T	ENST00000370060.1	-	12	1560	c.1371T>A	c.(1369-1371)agT>agA	p.S457R	L1CAM_ENST00000361699.4_Missense_Mutation_p.S457R|L1CAM_ENST00000370055.1_Missense_Mutation_p.S452R|L1CAM_ENST00000370057.3_Missense_Mutation_p.S457R|L1CAM_ENST00000361981.3_Missense_Mutation_p.S452R|L1CAM_ENST00000538883.1_Missense_Mutation_p.S459R|L1CAM_ENST00000543994.1_Missense_Mutation_p.S459R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	457	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					ACCACTGAACACTGGGCACAG	0.627													74	109					0	0	0	0	T	153134304	A	T	153134304	3	4	443	1	0	0	0	0	1	0	0	0	8641	156	6	5	2474	5	L1CAM	23	153134304	Missense_Mutation	SNP	A	TCGA-KU-A66S-01A-21D-A30E-08	1313003	153134304	2136256	618	87279											
CLIC2	1193	broad.mit.edu	37	chrX	154528136	154528136	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttctaaaaactcctcaatTttaatgaagtctgttttcaa	13	17	4	7	0	4	1	2	1	2	0	5	1	5	1	1	0	1	2	1	0	7	6			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:154528136T>C	ENST00000369449.2	-	3	473	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	85	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTCCTCAATTTTAATGAAGT	0.373													33	33					0	0	0	0	C	154528136	T	C	154528136	2	2	443	1	0	0	0	0	0	0	0	1	3556	1838	64	5		5	CLIC2	23	154528136	Silent	SNP	T	TCGA-KU-A66S-01A-21D-A30E-08	1393832	154528136	742424	619	87280											
IL9R	3581	broad.mit.edu	37	chrX	155232562	155232562	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagggccctcagcccagtCccttgcaggctggaccttgg	6	7	12	16	0	1	0	1	0	0	0	2	1	2	1	4	4	2	2	4	4	0	2			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:155232562C>A	ENST00000540897.1	+	3	199	c.131C>A	c.(130-132)tCc>tAc	p.S44Y	IL9R_ENST00000244174.5_Intron|IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000369423.2_Missense_Mutation_p.S54Y	NM_176786.1	NP_789743.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAGCCCAGTCCCTTGCAGGC	0.627													43	69					2.35958e-20	2.8557e-20	1	0	A	155232562	C	A	155232562	3	1	443	1	0	0	0	0	1	0	0	0	7761	870	30	2		2	IL9R	23	155232562	Missense_Mutation	SNP	C	TCGA-KU-A66S-01A-21D-A30E-08	704426	155232562	37998	620	87281											
MEGF6	1953	broad.mit.edu	37	chr1	3425651	3425651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcaccaaacttctctgTgagcgtgtgttcgccccgca	6	10	10	15	4	2	1	1	1	1	0	4	1	2	1	3	0	2	3	3	0	1	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:3425651T>C	ENST00000356575.4	-	12	1742	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	MEGF6_ENST00000294599.4_Missense_Mutation_p.T401A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	506						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AACTTCTCTGTGAGCGTGTGT	0.672													10	11					0	0	0	0	C	3425651	T	C	3425651	3	2	444	1	0	0	0	0	1	0	0	0	9531	1696	59	5	3213	5	MEGF6	1	3425651	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08		3425651	245824970	1	87282											
PIK3CD	5293	broad.mit.edu	37	chr1	9783218	9783218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctccccaccggggaccGcacaggcctcattgaggtgg	6	6	13	16	2	1	1	1	1	0	0	2	2	2	2	6	5	1	1	6	5	0	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:9783218G>A	ENST00000536656.1	+	20	2742	c.2534G>A	c.(2533-2535)cGc>cAc	p.R845H	PIK3CD_ENST00000377346.4_Missense_Mutation_p.R821H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	821	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R821H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGGGGACCGCACAGGCCTC	0.602													41	330					0	0	0	0	A	9783218	G	A	9783218	3	1	444	1	0	0	0	0	1	0	0	0	11987	1087	38	1	2532	1	PIK3CD	1	9783218	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	6357567	9783218	239467403	2	87283											
VPS13D	55187	broad.mit.edu	37	chr1	12337588	12337588	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaactggaagaaaattttCgaggtatgctgaaaagcgca	16	9	11	5	2	0	3	0	2	0	1	1	5	0	4	0	2	3	3	0	2	7	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:12337588C>T	ENST00000358136.3	+	19	4073	c.3943C>T	c.(3943-3945)Cga>Tga	p.R1315*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R1315*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1315					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAAAATTTTCGAGGTATGCT	0.428													5	180					0	0	0	0	T	12337588	C	T	12337588	4	4	444	1	0	0	0	0	0	1	0	0	17288	876	31	1	4013	1	VPS13D	1	12337588	Nonsense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	2554370	12337588	236913033	3	87284											
KIAA1522	57648	broad.mit.edu	37	chr1	33237579	33237579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagggctccatgctgcGgtccgactcaaggcctgcag	6	8	12	15	2	2	0	2	0	0	0	5	1	5	0	4	3	3	3	4	3	1	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:33237579G>A	ENST00000401073.2	+	6	2869	c.2799G>A	c.(2797-2799)gcG>gcA	p.A933A	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.A874A|KIAA1522_ENST00000373481.3_Silent_p.A885A	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	874	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCATGCTGCGGTCCGACTCA	0.711													13	8					0	0	0	0	A	33237579	G	A	33237579	2	1	444	1	0	0	0	0	0	0	0	1	8289	1103	39	1		1	KIAA1522	1	33237579	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	20899991	33237579	216013042	4	87285											
PABPC4	8761	broad.mit.edu	37	chr1	40027384	40027384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtctaagaggtagcagCagcaacagcgcccaccttct	10	8	9	14	1	2	1	0	0	2	1	2	1	2	1	3	1	5	4	3	1	3	4	rs1804943		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:40027384C>T	ENST00000372857.3	-	15	2713	c.1921G>A	c.(1921-1923)Gct>Act	p.A641T	PABPC4_ENST00000372862.3_Missense_Mutation_p.A612T|PABPC4_ENST00000372856.3_Missense_Mutation_p.A628T|PABPC4_ENST00000372858.3_Missense_Mutation_p.A657T	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	641					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGGTAGCAGCAGCAACAGCG	0.468													12	44					0	0	0	0	T	40027384	C	T	40027384	3	4	444	1	0	0	0	0	1	0	0	0	11437	710	25	4	17	4	PABPC4	1	40027384	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	6789805	40027384	209223237	5	87286											
RBMXL1	494115	broad.mit.edu	37	chr1	89448845	89448845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaacttgggtaatctctgCttgaatagctgtctttagta	10	15	10	6	0	2	2	0	1	2	1	3	3	2	2	0	1	3	4	0	1	6	7			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:89448845C>A	ENST00000399794.2	-	3	1380	c.665G>T	c.(664-666)aGc>aTc	p.S222I	CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.S222I|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	222							nucleotide binding|RNA binding										GTAATCTCTGCTTGAATAGCT	0.443													11	137					0.00829132	0.00853956	1	0	A	89448845	C	A	89448845	3	1	444	1	0	0	0	0	1	0	0	0	13235	797	28	4	511	4	RBMXL1	1	89448845	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	49421461	89448845	159801776	6	87287											
HSD17B7	51478	broad.mit.edu	37	chr1	162769622	162769622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcaaggaaatctaatttCagcctcgaggacttccagca	13	9	9	10	1	2	0	1	0	1	0	4	3	3	2	2	2	3	2	2	2	3	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:162769622C>G	ENST00000367917.3	+	5	605	c.537C>G	c.(535-537)ttC>ttG	p.F179L	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.F179L			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	179					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	AATCTAATTTCAGCCTCGAGG	0.493													4	50					0	0	0	0	G	162769622	C	G	162769622	3	3	444	1	0	0	0	0	1	0	0	0	7438	825	29	2	555	2	HSD17B7	1	162769622	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	73320777	162769622	86480999	7	87288											
FMO3	2328	broad.mit.edu	37	chr1	171086408	171086408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccagtttaggctggtgggCccagggcagtggccaggagc	7	7	17	10	0	0	0	0	0	0	0	0	1	0	1	3	6	2	3	3	6	2	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:171086408C>T	ENST00000367755.4	+	9	1536	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	FMO3_ENST00000538429.1_Silent_p.G412G|FMO3_ENST00000392085.2_Silent_p.G475G|FMO3_ENST00000542847.1_Silent_p.G455G	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	475					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCTGGTGGGCCCAGGGCAGT	0.552													33	82					0	0	0	0	T	171086408	C	T	171086408	2	4	444	1	0	0	0	0	0	0	0	1	6001	726	26	4		4	FMO3	1	171086408	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	8316786	171086408	78164213	8	87289											
ALLC	55821	broad.mit.edu	37	chr2	3727534	3727534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacgtttcttacttcaCgggagattacgctcctcgag	7	12	11	11	5	2	1	1	0	1	1	4	4	3	2	1	2	2	2	1	2	2	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:3727534C>G	ENST00000252505.3	+	5	410	c.248C>G	c.(247-249)aCg>aGg	p.T83R		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	102							allantoicase activity	p.T83M(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCTTACTTCACGGGAGATTAC	0.532										HNSCC(21;0.051)			38	96					0	0	0	0	G	3727534	C	G	3727534	3	3	444	1	0	0	0	0	1	0	0	0	534	536	19	3	262	3	ALLC	2	3727534	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08		3727534	239471839	9	87290											
OTOF	9381	broad.mit.edu	37	chr2	26706498	26706498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgttcggggggcaccccCtcggggagcagcaagttcct	5	7	16	13	3	0	0	0	0	0	0	3	1	1	1	3	6	2	5	3	6	1	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:26706498C>T	ENST00000272371.2	-	13	1350	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E	OTOF_ENST00000403946.3_Silent_p.E408E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	408	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCACCCCCTCGGGGAGCA	0.607													11	25					0	0	0	0	T	26706498	C	T	26706498	2	4	444	1	0	0	0	0	0	0	0	1	11374	680	24	4		4	OTOF	2	26706498	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	22978964	26706498	216492875	10	87291											
CCDC93	54520	broad.mit.edu	37	chr2	118766157	118766157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctttaattcttgccctGaaatacccagctgcaaccaa	13	10	5	13	0	1	1	0	1	1	0	1	1	1	1	4	0	6	2	4	0	6	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:118766157G>T	ENST00000376300.2	-	2	257	c.120C>A	c.(118-120)ttC>ttA	p.F40L	AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.F40L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	40										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTCTTGCCCTGAAATACCCAG	0.373													51	139					4.96213e-28	5.7281e-28	1	0	T	118766157	G	T	118766157	3	4	444	1	0	0	0	0	1	0	0	0	2899	1281	45	2	1867	2	CCDC93	2	118766157	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	92059659	118766157	124433216	11	87292											
MGAT5	4249	broad.mit.edu	37	chr2	135107509	135107509	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttttataccatgttcCgtgagtattcctgtttcatg	8	17	8	8	1	1	1	1	1	0	0	3	1	3	1	3	0	2	5	3	0	3	7			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:135107509C>T	ENST00000409645.1	+	10	1498	c.1246_splice	c.e10+1	p.P416_splice	MGAT5_ENST00000281923.2_Splice_Site_p.P416_splice			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	416					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TACCATGTTCCGTGAGTATTC	0.418													23	21					0	0	0	0	T	135107509	C	T	135107509	5	4	444	1	0	0	0	0	0	0	1	0	9617	666	23	1	1280	1	MGAT5	2	135107509	Splice_Site	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	16341352	135107509	108091864	12	87293											
CHL1	10752	broad.mit.edu	37	chr3	440041	440041	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgataatgatagcatttttCaagatgtaattgagacaaga	16	12	9	4	1	1	4	1	2	0	3	1	6	1	4	0	0	1	2	0	0	5	6			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:440041C>T	ENST00000256509.2	+	25	3868	c.3226C>T	c.(3226-3228)Caa>Taa	p.Q1076*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Q1060*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1060					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAGCATTTTTCAAGATGTAAT	0.393													21	70					0	0	0	0	T	440041	C	T	440041	4	4	444	1	0	0	0	0	0	1	0	0	3378	827	29	2	3316	2	CHL1	3	440041	Nonsense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08		440041	197582389	13	87294											
CAPN7	23473	broad.mit.edu	37	chr3	15287140	15287140	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttacattagtggtttctCaatatgaaaaacagaacaca	16	12	5	8	0	1	2	1	1	1	1	2	2	1	2	1	1	3	1	1	1	7	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:15287140C>T	ENST00000253693.2	+	17	2225	c.1972C>T	c.(1972-1974)Caa>Taa	p.Q658*		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	658	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGTGGTTTCTCAATATGAAAA	0.368													72	98					0	0	0	0	T	15287140	C	T	15287140	4	4	444	1	0	0	0	0	0	1	0	0	2656	827	29	2	2038	2	CAPN7	3	15287140	Nonsense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	14847099	15287140	182735290	14	87295											
ZNF445	353274	broad.mit.edu	37	chr3	44491028	44491028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taggagcagcaactggattcCccttaggctgagctgcctgc	8	9	12	12	0	0	1	0	1	0	0	1	3	1	3	3	3	6	4	3	3	3	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:44491028C>G	ENST00000425708.2	-	6	1249	c.908G>C	c.(907-909)gGg>gCg	p.G303A	ZNF445_ENST00000396077.2_Missense_Mutation_p.G303A			P59923	ZN445_HUMAN	zinc finger protein 445	303	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AACTGGATTCCCCTTAGGCTG	0.522													17	23					0	0	0	0	G	44491028	C	G	44491028	3	3	444	1	0	0	0	0	1	0	0	0	18013	623	22	4	2195	4	ZNF445	3	44491028	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	29203888	44491028	153531402	15	87296											
PLCH1	23007	broad.mit.edu	37	chr3	155199041	155199041	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggaactttctgcttgtTggcttcctgtttctccttgg	2	20	10	9	0	2	0	0	0	2	0	4	1	3	1	2	3	2	5	2	3	1	7			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:155199041T>G	ENST00000460012.1	-	23	5041	c.4684A>C	c.(4684-4686)Aac>Cac	p.N1562H	PLCH1_ENST00000340059.7_Missense_Mutation_p.N1600H|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1562H|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1562H|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1600					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCTGCTTGTTGGCTTCCTGT	0.552													11	184					0	0	0	0	G	155199041	T	G	155199041	3	3	444	1	0	0	0	0	1	0	0	0	12109	1812	63	5	287	5	PLCH1	3	155199041	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	110708013	155199041	42823389	16	87297											
MECOM	2122	broad.mit.edu	37	chr3	168833976	168833976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctcttcagaggacctctCgggctggagctccactggct	5	10	11	15	1	3	1	1	0	2	1	6	3	4	3	3	4	1	3	3	4	0	1	rs149928659	by1000genomes	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:168833976C>T	ENST00000464456.1	-	7	2320	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	MECOM_ENST00000392736.3_Missense_Mutation_p.E374K|MECOM_ENST00000264674.3_Missense_Mutation_p.E439K|MECOM_ENST00000433243.2_Missense_Mutation_p.E375K|MECOM_ENST00000460814.1_Missense_Mutation_p.E374K|MECOM_ENST00000494292.1_Missense_Mutation_p.E562K|MECOM_ENST00000468789.1_Missense_Mutation_p.E374K|MECOM_ENST00000472280.1_Missense_Mutation_p.E375K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGGACCTCTCGGGCTGGAGC	0.493													17	118					0	0	0	0	T	168833976	C	T	168833976	3	4	444	1	0	0	0	0	1	0	0	0	9491	893	31	1	2075	1	MECOM	3	168833976	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	13634935	168833976	29188454	17	87298											
PLD1	5337	broad.mit.edu	37	chr3	171330139	171330139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttccatccattactgaagGaacagtctctgtatcttgca	10	15	6	10	0	2	1	0	1	2	0	5	2	4	2	2	1	3	2	2	1	4	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:171330139G>C	ENST00000356327.5	-	24	2768	c.2698C>G	c.(2698-2700)Cct>Gct	p.P900A	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.P938A|PLD1_ENST00000351298.4_Missense_Mutation_p.P938A	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	938	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATTACTGAAGGAACAGTCTCT	0.498													21	120					0	0	0	0	C	171330139	G	C	171330139	3	2	444	1	0	0	0	0	1	0	0	0	12117	1174	41	2	424	2	PLD1	3	171330139	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	2496163	171330139	26692291	18	87299											
AP2M1	1173	broad.mit.edu	37	chr3	183896750	183896750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttcttccacgttaagcgGtccaacatttggctggcagc	8	11	10	12	2	1	0	0	0	1	0	3	0	3	0	2	3	4	4	2	3	2	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:183896750G>A	ENST00000382456.3	+	3	494	c.180G>A	c.(178-180)cgG>cgA	p.R60R	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Silent_p.R85R|AP2M1_ENST00000439647.1_Silent_p.R60R|AP2M1_ENST00000292807.5_Silent_p.R60R	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	60					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTTAAGCGGTCCAACATTT	0.542													65	108					0	0	0	0	A	183896750	G	A	183896750	2	1	444	1	0	0	0	0	0	0	0	1	743	1248	44	4		4	AP2M1	3	183896750	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	12566611	183896750	14125680	19	87300											
CENPE	1062	broad.mit.edu	37	chr4	104115399	104115399	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactcaccaaatgggataccTtaacagatccttcacaatta	15	11	4	11	0	2	1	2	0	0	1	3	2	3	2	3	1	3	0	3	1	6	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:104115399T>G	ENST00000265148.3	-	8	769	c.680A>C	c.(679-681)aAg>aCg	p.K227T	CENPE_ENST00000380026.3_Missense_Mutation_p.K227T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	227	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATGGGATACCTTAACAGATCC	0.343													4	18					0	0	0	0	G	104115399	T	G	104115399	3	3	444	1	0	0	0	0	1	0	0	0	3259	1609	56	5	7593	5	CENPE	4	104115399	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08		104115399	87038877	20	87301											
EGF	1950	broad.mit.edu	37	chr4	110862242	110862242	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgagaaaagaatctatTgggtggatttagaaagacaa	19	10	10	2	0	1	4	0	1	1	4	1	6	1	5	0	2	0	0	0	2	8	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:110862242T>G	ENST00000265171.5	+	2	713	c.268T>G	c.(268-270)Tgg>Ggg	p.W90G	EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.W90G|EGF_ENST00000509793.1_Missense_Mutation_p.W90G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	90					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			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)	AAGAATCTATTGGGTGGATTT	0.378													26	46					0	0	0	0	G	110862242	T	G	110862242	3	3	444	1	0	0	0	0	1	0	0	0	4998	1812	63	5	274	5	EGF	4	110862242	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	6746843	110862242	80292034	21	87302											
GYPA	2993	broad.mit.edu	37	chr4	145032560	145032560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattctcattgatcacttGtctctagaaggattatagta	12	15	7	7	0	3	3	2	1	2	2	5	4	3	4	0	1	0	1	0	1	5	7			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:145032560G>T	ENST00000360771.4	-	7	555	c.440C>A	c.(439-441)aCa>aAa	p.T147K	GYPA_ENST00000324022.10_Missense_Mutation_p.T114K|GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Missense_Mutation_p.T134K|GYPA_ENST00000504786.1_Missense_Mutation_p.T115K|GYPA_ENST00000512789.1_Missense_Mutation_p.T82K|GYPA_ENST00000535709.1_Missense_Mutation_p.T121K|GYPA_ENST00000503627.1_Missense_Mutation_p.T102K	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	147					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTGATCACTTGTCTCTAGAAG	0.323													4	24					2.56e-06	2.73491e-06	1	0	T	145032560	G	T	145032560	3	4	444	1	0	0	0	0	1	0	0	0	6958	1377	48	4	16	4	GYPA	4	145032560	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	34170318	145032560	46121716	22	87303											
SH3RF1	57630	broad.mit.edu	37	chr4	170057513	170057513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacagctcgctgatccGtgcagcagcagtggggttgc	7	7	14	13	2	0	2	0	1	0	1	2	2	1	2	2	2	5	6	2	2	0	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:170057513G>A	ENST00000284637.9	-	5	1365	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	342						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCGCTGATCCGTGCAGCAGCA	0.542													88	248					0	0	0	0	A	170057513	G	A	170057513	3	1	444	1	0	0	0	0	1	0	0	0	14346	1144	40	1	1674	1	SH3RF1	4	170057513	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	25024953	170057513	21096763	23	87304											
IRX1	79192	broad.mit.edu	37	chr5	3599946	3599946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagccgggcagcacgcGcctgctgagccccggcgctg	5	3	15	18	5	0	2	0	1	0	1	0	2	0	2	5	2	4	4	5	2	0	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:3599946G>T	ENST00000302006.3	+	2	936	c.884G>T	c.(883-885)cGc>cTc	p.R295L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	295						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCAGCACGCGCCTGCTGAGC	0.741													4	8					0.00024832	0.000262031	1	0	T	3599946	G	T	3599946	3	4	444	1	0	0	0	0	1	0	0	0	7896	1087	38	3	890	3	IRX1	5	3599946	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08		3599946	177315314	24	87305											
ZNF366	167465	broad.mit.edu	37	chr5	71756557	71756557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtaggacttctcgcaggtgGggcactgccagcgcttctgc	5	10	14	12	2	2	0	0	0	2	0	3	1	2	1	1	4	3	4	1	4	1	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:71756557G>T	ENST00000318442.5	-	2	1257	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTCGCAGGTGGGGCACTGCCA	0.622													28	140					2.36697e-06	2.5445e-06	1	0	T	71756557	G	T	71756557	3	4	444	1	0	0	0	0	1	0	0	0	17965	1232	43	4	1483	4	ZNF366	5	71756557	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	68156611	71756557	109158703	25	87306											
CHD1	1105	broad.mit.edu	37	chr5	98235320	98235320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccatttaattaaatactGaatctctcctggttctttgt	9	20	4	8	0	2	1	0	1	2	0	5	1	4	1	2	1	1	1	2	1	5	7			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:98235320G>C	ENST00000284049.3	-	7	1098	c.949C>G	c.(949-951)Cag>Gag	p.Q317E		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	317	Chromo 1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTAAATACTGAATCTCTCCT	0.398													33	133					0	0	0	0	C	98235320	G	C	98235320	3	2	444	1	0	0	0	0	1	0	0	0	3352	1299	45	2	4299	2	CHD1	5	98235320	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	26478763	98235320	82679940	26	87307											
SEMA6A	57556	broad.mit.edu	37	chr5	115783370	115783370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacagccacgtctttgcGccgatgatcacagacgcagt	10	7	9	15	4	2	2	1	1	1	1	2	3	2	2	3	0	2	1	3	0	0	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:115783370G>A	ENST00000343348.6	-	19	2819	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000503865.1_Missense_Mutation_p.R57C|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R155C|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R105C|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R678C|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R695C|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	678					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACGTCTTTGCGCCGATGATCA	0.627													18	24					0	0	0	0	A	115783370	G	A	115783370	3	1	444	1	0	0	0	0	1	0	0	0	14126	1087	38	1	1064	1	SEMA6A	5	115783370	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	17548050	115783370	65131890	27	87308											
IL17B	27190	broad.mit.edu	37	chr5	148754117	148754117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccagacacaggcaccGtgcctccggcaggtccacgg	9	3	12	17	3	0	1	0	0	0	1	2	1	2	1	5	4	2	2	5	4	0	0	rs140917979	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:148754117G>A	ENST00000261796.3	-	3	408	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	120					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCACCGTGCCTCCGGC	0.642													23	38					0	0	0	0	A	148754117	G	A	148754117	3	1	444	1	0	0	0	0	1	0	0	0	7688	1144	40	1	188	1	IL17B	5	148754117	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	32970747	148754117	32161143	28	87309											
OR5V1	81696	broad.mit.edu	37	chr6	29323066	29323066	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccacttgctccctatagTtttgacagcttctttgatgt	6	17	7	11	0	1	2	0	2	1	0	2	2	2	2	2	0	3	3	2	0	2	7			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:29323066T>A	ENST00000377154.1	-	4	1206	c.907A>T	c.(907-909)Act>Tct	p.T303S	OR5V1_ENST00000543825.1_Missense_Mutation_p.T303S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCCTATAGTTTTGACAGCT	0.368													7	149					0	0	0	0	A	29323066	T	A	29323066	3	1	444	1	0	0	0	0	1	0	0	0	11255	1725	60	5	61	5	OR5V1	6	29323066	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08		29323066	141792001	29	87310											
LY6G6D	58530	broad.mit.edu	37	chr6	31677815	31677815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactacagcctccatcgatgCttctcctgccctctgtgccc	5	12	6	18	1	2	0	0	0	2	0	5	1	3	0	5	0	6	1	5	0	2	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:31677815C>T	ENST00000503322.1	+	4	662	c.659C>T	c.(658-660)gCt>gTt	p.A220V	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.A220V|LY6G6F_ENST00000556581.1_Missense_Mutation_p.A220V																							TCCATCGATGCTTCTCCTGCC	0.617													17	48					0	0	0	0	T	31677815	C	T	31677815	3	4	444	1	0	0	0	0	1	0	0	0	9160	797	28	4		4	LY6G6D	6	31677815	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	2354749	31677815	139437252	30	87311											
CFB	629	broad.mit.edu	37	chr6	31917333	31917333	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgttttctaccaaatgatCggtagggagatacaagggaa	14	10	12	5	1	1	2	0	1	1	1	2	5	1	3	1	3	2	2	1	3	6	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:31917333C>T	ENST00000556679.1	+	22	2968	c.2914_splice	c.e22+1	p.I971_splice	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Splice_Site_p.I469_splice|CFB_ENST00000477310.1_Splice_Site_p.I820_splice|CFB_ENST00000456570.1_Splice_Site_p.I971_splice			P00751	CFAB_HUMAN	complement factor B	469					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCAAATGATCGGTAGGGAGA	0.418													14	52					0	0	0	0	T	31917333	C	T	31917333	5	4	444	1	0	0	0	0	0	0	1	0	3307	898	31	1	1445	1	CFB	6	31917333	Splice_Site	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	239518	31917333	139197734	31	87312											
SPDEF	25803	broad.mit.edu	37	chr6	34506142	34506142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactggcggatggagcggCtcagcttgtcgtagttcatg	8	11	14	8	3	2	0	2	0	0	0	3	2	2	2	0	4	3	4	0	4	3	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:34506142C>A	ENST00000374037.3	-	6	1331	c.917G>T	c.(916-918)aGc>aTc	p.S306I	SPDEF_ENST00000544425.1_Missense_Mutation_p.S290I	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	306					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GATGGAGCGGCTCAGCTTGTC	0.597													41	217					4.78724e-31	5.56355e-31	1	0	A	34506142	C	A	34506142	3	1	444	1	0	0	0	0	1	0	0	0	15116	797	28	4	94	4	SPDEF	6	34506142	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	2588809	34506142	136608925	32	87313											
DOPEY1	23033	broad.mit.edu	37	chr6	83855308	83855308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgttcaatcagtgtcatGagagcagaaactgttatcca	12	12	9	8	1	3	2	3	1	0	2	5	3	4	2	1	0	2	4	1	0	3	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:83855308G>T	ENST00000349129.2	+	25	5867	c.5607G>T	c.(5605-5607)atG>atT	p.M1869I	DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1850I|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1860I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1869					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGTGTCATGAGAGCAGAAA	0.378													6	59					0.00116845	0.00121802	1	0	T	83855308	G	T	83855308	3	4	444	1	0	0	0	0	1	0	0	0	4743	1290	45	2	5697	2	DOPEY1	6	83855308	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	49349166	83855308	87259759	33	87314											
FUT9	10690	broad.mit.edu	37	chr6	96651501	96651501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttaacctgactctgaCttaccgccgtgattcagata	9	14	7	11	2	2	4	1	3	1	1	2	4	2	4	3	0	2	1	3	0	3	6			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:96651501C>G	ENST00000302103.5	+	3	796	c.470C>G	c.(469-471)aCt>aGt	p.T157S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	157					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGACTCTGACTTACCGCCGT	0.463													41	29					0	0	0	0	G	96651501	C	G	96651501	3	3	444	1	0	0	0	0	1	0	0	0	6159	565	20	4	472	4	FUT9	6	96651501	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	12796193	96651501	74463566	34	87315											
GRIK2	2898	broad.mit.edu	37	chr6	102307270	102307270	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttatctacaatccttggcTttacatatgaaattagactt	13	16	5	7	0	1	2	0	1	1	1	2	2	2	2	1	1	2	2	1	1	7	8			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:102307270T>A	ENST00000369138.1	+	10	1916	c.1426T>A	c.(1426-1428)Ttt>Att	p.F476I	GRIK2_ENST00000318991.6_Missense_Mutation_p.F476I|GRIK2_ENST00000413795.1_Missense_Mutation_p.F476I|GRIK2_ENST00000369134.4_Missense_Mutation_p.F427I|GRIK2_ENST00000421544.1_Missense_Mutation_p.F476I|GRIK2_ENST00000369137.3_Missense_Mutation_p.F476I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	476					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AATCCTTGGCTTTACATATGA	0.383													12	54					0	0	0	0	A	102307270	T	A	102307270	3	1	444	1	0	0	0	0	1	0	0	0	6824	1609	56	5	1464	5	GRIK2	6	102307270	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	5655769	102307270	68807797	35	87316											
SYNE1	23345	broad.mit.edu	37	chr6	152552687	152552687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagctgtttacagttaaTgtctatcttaaaaccctaaa	13	15	5	8	0	3	0	1	0	2	0	3	0	3	0	1	0	3	3	1	0	7	6			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:152552687T>C	ENST00000367255.5	-	114	21479	c.20878A>G	c.(20878-20880)Att>Gtt	p.I6960V	SYNE1_ENST00000341594.5_Missense_Mutation_p.I6572V|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1484V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I6889V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I6889V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I6960V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6960					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTACAGTTAATGTCTATCTTA	0.353										HNSCC(10;0.0054)			12	41					0	0	0	0	C	152552687	T	C	152552687	3	2	444	1	0	0	0	0	1	0	0	0	15536	1464	51	5	5720	5	SYNE1	6	152552687	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	50245417	152552687	18562380	36	87317											
RADIL	55698	broad.mit.edu	37	chr7	4917400	4917400	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgggcctgccaccgcTgcccagcatcgccggcttgg	5	5	13	18	4	0	0	0	0	0	0	1	0	0	0	6	3	4	4	6	3	0	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:4917400T>A	ENST00000399583.3	-	2	558	c.371A>T	c.(370-372)cAg>cTg	p.Q124L	RADIL_ENST00000536091.1_Missense_Mutation_p.Q124L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	124	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGCCACCGCTGCCCAGCATC	0.637													26	252					0	0	0	0	A	4917400	T	A	4917400	3	1	444	1	0	0	0	0	1	0	0	0	13079	1580	55	5	2912	5	RADIL	7	4917400	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08		4917400	154221263	37	87318											
TSPAN13	27075	broad.mit.edu	37	chr7	16815972	16815972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttagtgggtctgattggagCtgtaaaacatcatcaggtgt	10	14	12	5	0	3	1	2	1	1	0	3	2	3	2	0	3	2	2	0	3	3	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:16815972C>T	ENST00000262067.4	+	2	633	c.200C>T	c.(199-201)gCt>gTt	p.A67V	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	67						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CTGATTGGAGCTGTAAAACAT	0.393													20	60					0	0	0	0	T	16815972	C	T	16815972	3	4	444	1	0	0	0	0	1	0	0	0	16732	797	28	4	206	4	TSPAN13	7	16815972	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	11898572	16815972	142322691	38	87319											
ABCB5	340273	broad.mit.edu	37	chr7	20785014	20785014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattagatgagatcaaagaaGccgcaaatgcagcaaatatc	18	7	8	8	1	1	3	1	1	0	3	2	4	1	3	1	0	3	3	1	0	6	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:20785014G>A	ENST00000404938.2	+	26	4034	c.3382G>A	c.(3382-3384)Gcc>Acc	p.A1128T	ABCB5_ENST00000258738.6_Missense_Mutation_p.A683T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	683					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATCAAAGAAGCCGCAAATGC	0.423													25	61					0	0	0	0	A	20785014	G	A	20785014	3	1	444	1	0	0	0	0	1	0	0	0	44	971	34	4	3521	4	ABCB5	7	20785014	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	3969042	20785014	138353649	39	87320											
EGFR	1956	broad.mit.edu	37	chr7	55240688	55240688	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccaggcctaagatcccGtccatcgccactgggatggt	8	9	10	14	2	0	1	0	0	0	1	4	2	3	2	5	3	0	0	5	3	1	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:55240688G>C	ENST00000275493.2	+	17	2109	c.1932G>C	c.(1930-1932)ccG>ccC	p.P644P	EGFR_ENST00000454757.2_Silent_p.P591P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.P599P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	644					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTAAGATCCCGTCCATCGCCA	0.607		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			29	770					0	0	0	0	C	55240688	G	C	55240688	2	2	444	1	0	0	0	0	0	0	0	1	5003	1132	40	3		3	EGFR	7	55240688	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	34455674	55240688	103897975	40	87321											
ZNF713	349075	broad.mit.edu	37	chr7	55990881	55990881	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgtttcaggatgtggcCgtggacttcaccagagagga	9	9	14	9	2	2	2	2	1	0	1	2	6	2	5	2	4	0	1	2	4	0	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:55990881C>T	ENST00000429591.2	+	2	113	c.75C>T	c.(73-75)gcC>gcT	p.A25A	MRPS17_ENST00000426595.1_Silent_p.A25A|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGATGTGGCCGTGGACTTCA	0.517													62	140					0	0	0	0	T	55990881	C	T	55990881	2	4	444	1	0	0	0	0	0	0	0	1	18212	639	23	1		1	ZNF713	7	55990881	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	750193	55990881	103147782	41	87322											
FZD9	8326	broad.mit.edu	37	chr7	72849831	72849831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccggagggactgctcGctgccagggggctcggtgcc	4	5	20	12	3	0	0	0	0	0	0	2	3	0	3	3	7	3	3	3	7	0	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:72849831G>A	ENST00000344575.3	+	1	1723	c.1494G>A	c.(1492-1494)tcG>tcA	p.S498S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	498					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGACTGCTCGCTGCCAGGGG	0.657													28	39					0	0	0	0	A	72849831	G	A	72849831	2	1	444	1	0	0	0	0	0	0	0	1	6185	1074	38	1		1	FZD9	7	72849831	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	16858950	72849831	86288832	42	87323											
ABCB1	5243	broad.mit.edu	37	chr7	87190586	87190586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaactcaaacctttcaaGttctttcttttgtcctccaa	12	15	3	11	0	4	1	2	0	2	1	6	1	6	1	3	0	2	1	3	0	5	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:87190586G>T	ENST00000265724.3	-	9	1237	c.820C>A	c.(820-822)Ctt>Att	p.L274I	ABCB1_ENST00000543898.1_Missense_Mutation_p.L210I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	274	ABC transmembrane type-1 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			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)	AACCTTTCAAGTTCTTTCTTT	0.358													10	22					0.000978159	0.00102587	1	0	T	87190586	G	T	87190586	3	4	444	1	0	0	0	0	1	0	0	0	40	1029	36	4	3106	4	ABCB1	7	87190586	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	14340755	87190586	71948077	43	87324											
ANKIB1	54467	broad.mit.edu	37	chr7	91936800	91936800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcctcgcttggcacgcCccacagaagatgatttcaga	10	10	8	13	2	2	4	2	1	0	3	4	4	3	4	3	1	0	2	3	1	1	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:91936800C>T	ENST00000265742.3	+	3	692	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	106							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGGCACGCCCCACAGAAGA	0.418													15	88					0	0	0	0	T	91936800	C	T	91936800	3	4	444	1	0	0	0	0	1	0	0	0	630	623	22	4	322	4	ANKIB1	7	91936800	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	4746214	91936800	67201863	44	87325											
LMTK2	22853	broad.mit.edu	37	chr7	97823049	97823049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaagtgacccctgagaCgttcacagctggctcccagg	10	6	11	14	1	1	3	1	2	0	2	2	4	2	3	3	2	1	3	3	2	1	1	rs61734170	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:97823049C>T	ENST00000297293.5	+	11	3565	c.3272C>T	c.(3271-3273)aCg>aTg	p.T1091M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1091					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCCCTGAGACGTTCACAGCT	0.602													15	32					0	0	0	0	T	97823049	C	T	97823049	3	4	444	1	0	0	0	0	1	0	0	0	8914	536	19	1	3314	1	LMTK2	7	97823049	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	5886249	97823049	61315614	45	87326											
IFRD1	3475	broad.mit.edu	37	chr7	112095887	112095887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaatgagccattgcaGtggttatagcgatccttcca	12	11	9	9	1	0	2	0	2	0	0	2	3	2	2	3	1	4	2	3	1	4	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:112095887G>T	ENST00000403825.3	+	2	425	c.164G>T	c.(163-165)aGt>aTt	p.S55I	IFRD1_ENST00000535603.1_Missense_Mutation_p.S5I|IFRD1_ENST00000429071.1_Missense_Mutation_p.S55I|IFRD1_ENST00000005558.4_Missense_Mutation_p.S55I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	55					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGCCATTGCAGTGGTTATAGC	0.358													5	66					0.184627	0.184627	1	0	T	112095887	G	T	112095887	3	4	444	1	0	0	0	0	1	0	0	0	7606	1029	36	4	170	4	IFRD1	7	112095887	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	14272838	112095887	47042776	46	87327											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205401	38205401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcaccaaagccattggCtgacccattaggatactgat	13	9	8	11	0	0	2	0	2	0	0	0	3	0	3	3	2	4	2	3	2	4	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:38205401C>T	ENST00000317025.8	-	2	806	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A97T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A97T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A97T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	97					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAGCCATTGGCTGACCCATTA	0.398			T	NUP98	AML								18	1662					0	0	0	0	T	38205401	C	T	38205401	3	4	444	1	0	0	0	0	1	0	0	0	17459	797	28	4	4203	4	WHSC1L1	8	38205401	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08		38205401	108158621	47	87328											
HOOK3	84376	broad.mit.edu	37	chr8	42828466	42828466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacagattatccgaagaatCaaagaaagcagataaactag	22	6	7	6	1	1	4	1	0	0	4	2	5	2	4	1	0	3	1	1	0	9	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:42828466C>T	ENST00000307602.4	+	12	1357	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	386					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCCGAAGAATCAAAGAAAGCA	0.294			T	RET	papillary thyroid								200	68					0	0	0	0	T	42828466	C	T	42828466	3	4	444	1	0	0	0	0	1	0	0	0	7334	838	29	2	1203	2	HOOK3	8	42828466	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	4623065	42828466	103535556	48	87329											
ADCY8	114	broad.mit.edu	37	chr8	132051855	132051855	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacgccgctgtactgcAggtacgtgtgggaggtggtg	6	9	17	9	3	0	1	0	1	0	0	0	2	0	2	2	4	3	4	2	4	2	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:132051855A>C	ENST00000286355.5	-	1	2817	c.725T>G	c.(724-726)cTg>cGg	p.L242R	ADCY8_ENST00000377928.3_Missense_Mutation_p.L242R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	242					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGTACTGCAGGTACGTGTG	0.647										HNSCC(32;0.087)			7	81					0	0	0	0	C	132051855	A	C	132051855	3	2	444	1	0	0	0	0	1	0	0	0	300	188	7	5	3102	5	ADCY8	8	132051855	Missense_Mutation	SNP	A	TCGA-KU-A66T-01A-11D-A30E-08	89223389	132051855	14312167	49	87330											
TG	7038	broad.mit.edu	37	chr8	133900338	133900338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgacacctacatcccacaGtgcagcaccgatgggcagtg	10	6	10	15	2	0	0	0	0	0	0	2	2	2	0	4	1	3	3	4	1	1	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:133900338G>C	ENST00000220616.4	+	10	2326	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	TG_ENST00000377869.1_Missense_Mutation_p.Q762H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	762	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACATCCCACAGTGCAGCACCG	0.567													4	109					0	0	0	0	C	133900338	G	C	133900338	3	2	444	1	0	0	0	0	1	0	0	0	15907	1020	36	4	2324	4	TG	8	133900338	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	1848483	133900338	12463684	50	87331											
PLEC	5339	broad.mit.edu	37	chr8	144994473	144994473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgtcggcccttggtgcCgacagggccctgctggtctc	2	10	15	14	3	1	0	0	0	1	0	3	1	1	0	3	5	2	1	3	5	0	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:144994473C>T	ENST00000322810.4	-	32	10096	c.9927G>A	c.(9925-9927)tcG>tcA	p.S3309S	PLEC_ENST00000356346.3_Silent_p.S3158S|PLEC_ENST00000436759.2_Silent_p.S3199S|PLEC_ENST00000398774.2_Silent_p.S3140S|PLEC_ENST00000354958.2_Silent_p.S3150S|PLEC_ENST00000527096.1_Silent_p.S3195S|PLEC_ENST00000354589.3_Silent_p.S3172S|PLEC_ENST00000357649.2_Silent_p.S3176S|PLEC_ENST00000345136.3_Silent_p.S3172S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3309	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCTTGGTGCCGACAGGGCCC	0.726													7	27					0	0	0	0	T	144994473	C	T	144994473	2	4	444	1	0	0	0	0	0	0	0	1	12124	639	23	1		1	PLEC	8	144994473	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	11094135	144994473	1369549	51	87332											
GDA	9615	broad.mit.edu	37	chr9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggaaagcaggtggttcCgttttccagctcagtgtaag	8	10	15	8	2	1	0	1	0	0	0	3	1	3	1	2	4	2	5	2	4	2	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:74863239C>T	ENST00000358399.3	+	14	1439	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_ENST00000238018.4_Missense_Mutation_p.P449L|GDA_ENST00000376989.3_Missense_Mutation_p.P388L|GDA_ENST00000545168.1_Missense_Mutation_p.P375L|GDA_ENST00000376986.1_Missense_Mutation_p.P371L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	449					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.P449Q(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443													30	42					0	0	0	0	T	74863239	C	T	74863239	3	4	444	1	0	0	0	0	1	0	0	0	6356	652	23	1	1400	1	GDA	9	74863239	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08		74863239	66350192	52	87333											
PALM2	114299	broad.mit.edu	37	chr9	112705561	112705561	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgtgtccactattgacggGaacgcggctgagcttgtgtc	7	10	14	10	4	0	2	0	2	0	0	2	4	1	3	1	2	2	2	1	2	2	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:112705561G>T	ENST00000448454.2	+	8	1098	c.1098G>T	c.(1096-1098)ggG>ggT	p.G366G	PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000483909.1_Silent_p.G330G|PALM2_ENST00000374531.2_Silent_p.G332G|PALM2_ENST00000314527.4_Silent_p.G364G|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTATTGACGGGAACGCGGCTG	0.547													26	94					2.79863e-10	3.12575e-10	1	0	T	112705561	G	T	112705561	2	4	444	1	0	0	0	0	0	0	0	1	11480	1161	41	2		2	PALM2	9	112705561	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	37842322	112705561	28507870	53	87334											
ZFP37	7539	broad.mit.edu	37	chr9	115805121	115805121	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttctccagtgtgggatcGctgatgtataacaagctgtg	8	15	11	7	1	1	1	0	1	1	0	3	2	1	2	1	1	2	3	1	1	3	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:115805121G>A	ENST00000374227.3	-	4	1804	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	ZFP37_ENST00000553380.1_Nonsense_Mutation_p.R608*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.R594*			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	593						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGTGGGATCGCTGATGTATA	0.373													17	25					0	0	0	0	A	115805121	G	A	115805121	4	1	444	1	0	0	0	0	0	1	0	0	17743	1095	38	1	119	1	ZFP37	9	115805121	Nonsense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	3099560	115805121	25408310	54	87335											
CUBN	8029	broad.mit.edu	37	chr10	17087129	17087129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagctgtggtaatagggCatcgggtagttgggagatat	10	11	16	4	1	1	2	1	0	0	2	2	3	1	2	0	4	1	5	0	4	4	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:17087129C>A	ENST00000377833.4	-	25	3614	c.3549G>T	c.(3547-3549)atG>atT	p.M1183I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1183	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAATAGGGCATCGGGTAGT	0.488													23	59					3.08376e-08	3.37839e-08	1	0	A	17087129	C	A	17087129	3	1	444	1	0	0	0	0	1	0	0	0	4083	710	25	4	7494	4	CUBN	10	17087129	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08		17087129	118447618	55	87336											
CUBN	8029	broad.mit.edu	37	chr10	17110638	17110638	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacttagccatgaaaccAtggttttcagtagaagaact	14	11	8	8	0	1	4	1	2	0	2	1	4	1	4	2	1	4	2	2	1	6	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:17110638A>C	ENST00000377833.4	-	20	2822	c.2757T>G	c.(2755-2757)caT>caG	p.H919Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	919	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCATGAAACCATGGTTTTCAG	0.348													33	104					0	0	0	0	C	17110638	A	C	17110638	3	2	444	1	0	0	0	0	1	0	0	0	4083	214	8	5	8306	5	CUBN	10	17110638	Missense_Mutation	SNP	A	TCGA-KU-A66T-01A-11D-A30E-08	23509	17110638	118424109	56	87337											
BMS1	9790	broad.mit.edu	37	chr10	43292587	43292587	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagaaactggggccacAgaacttcattgatgagacca	13	8	11	9	0	2	4	2	2	0	3	2	5	2	4	2	3	2	0	2	3	2	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:43292587A>G	ENST00000374518.4	+	10	1958	c.1895A>G	c.(1894-1896)cAg>cGg	p.Q632R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	632					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGGGCCACAGAACTTCATT	0.388													27	36					0	0	0	0	G	43292587	A	G	43292587	3	3	444	1	0	0	0	0	1	0	0	0	1477	188	7	5	1929	5	BMS1	10	43292587	Missense_Mutation	SNP	A	TCGA-KU-A66T-01A-11D-A30E-08	26181949	43292587	92242160	57	87338											
MINPP1	9562	broad.mit.edu	37	chr10	89268241	89268241	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaaatgcagaacattttAaaaaaagttgcagctacttt	17	11	6	7	0	0	2	0	0	0	2	0	2	0	2	1	0	5	4	1	0	7	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:89268241A>T	ENST00000371996.4	+	2	827	c.786A>T	c.(784-786)ttA>ttT	p.L262F	MINPP1_ENST00000536010.1_Missense_Mutation_p.L61F|MINPP1_ENST00000371994.4_Missense_Mutation_p.L262F	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	262					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		AGAACATTTTAAAAAAAGTTG	0.318													13	23					0	0	0	0	T	89268241	A	T	89268241	3	4	444	1	0	0	0	0	1	0	0	0	9657	359	13	5	830	5	MINPP1	10	89268241	Missense_Mutation	SNP	A	TCGA-KU-A66T-01A-11D-A30E-08	45975654	89268241	46266506	58	87339											
C10orf76	79591	broad.mit.edu	37	chr10	103607343	103607343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagtgtgtggaaggccAggtttctccggacgttggtg	5	11	18	7	2	1	1	0	1	1	0	2	3	1	3	2	6	0	3	2	6	1	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:103607343A>G	ENST00000370033.4	-	26	2131	c.2012T>C	c.(2011-2013)cTg>cCg	p.L671P	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	671						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GTGGAAGGCCAGGTTTCTCCG	0.567													15	81					0	0	0	0	G	103607343	A	G	103607343	3	3	444	1	0	0	0	0	1	0	0	0	1626	188	7	5	61	5	C10orf76	10	103607343	Missense_Mutation	SNP	A	TCGA-KU-A66T-01A-11D-A30E-08	14339102	103607343	31927404	59	87340											
PGAP2	27315	broad.mit.edu	37	chr11	3838738	3838738	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccctggtgttccacttTgagtacacggtggccactga	6	12	12	11	1	0	2	0	2	0	0	2	2	2	2	3	4	1	2	3	4	1	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:3838738T>G	ENST00000278243.4	+	3	522	c.321T>G	c.(319-321)ttT>ttG	p.F107L	PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.F107L|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000532017.1_Intron	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	107					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TGTTCCACTTTGAGTACACGG	0.572													21	23					0	0	0	0	G	3838738	T	G	3838738	3	3	444	1	0	0	0	0	1	0	0	0	11850	1809	63	5	506	5	PGAP2	11	3838738	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08		3838738	131167778	60	87341											
NR1H3	10062	broad.mit.edu	37	chr11	47282095	47282095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcaagggattcttccGccgcagcgtcatcaagggag	8	7	15	11	3	3	0	2	0	1	0	4	2	4	2	2	3	2	3	2	3	2	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:47282095G>A	ENST00000467728.1	+	3	1606	c.368G>A	c.(367-369)cGc>cAc	p.R123H	NR1H3_ENST00000407404.1_Missense_Mutation_p.R123H|NR1H3_ENST00000481889.2_Missense_Mutation_p.R78H|NR1H3_ENST00000395397.3_Missense_Mutation_p.R78H|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.R123H|NR1H3_ENST00000527949.1_Missense_Mutation_p.R32H|NR1H3_ENST00000405853.3_Missense_Mutation_p.R123H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R78H			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	123					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGATTCTTCCGCCGCAGCGTC	0.612													21	30					0	0	0	0	A	47282095	G	A	47282095	3	1	444	1	0	0	0	0	1	0	0	0	10689	1087	38	1	378	1	NR1H3	11	47282095	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	43443357	47282095	87724421	61	87342											
OR8K1	390157	broad.mit.edu	37	chr11	56114039	56114039	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttaaactgtccttctgTggctcaaacataatcagcta	12	15	5	9	0	3	0	2	0	1	0	4	0	4	0	1	1	3	2	1	1	6	6			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:56114039T>G	ENST00000279783.2	+	1	619	c.525T>G	c.(523-525)tgT>tgG	p.C175W		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTCCTTCTGTGGCTCAAACA	0.353										HNSCC(65;0.19)			48	111					0	0	0	0	G	56114039	T	G	56114039	3	3	444	1	0	0	0	0	1	0	0	0	11314	1702	59	5	527	5	OR8K1	11	56114039	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	8831944	56114039	78892477	62	87343											
MS4A12	54860	broad.mit.edu	37	chr11	60269505	60269505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatccaaggagctttcccGttgtctggtaagttagactg	9	12	11	9	1	1	1	0	0	1	1	3	2	3	2	2	2	2	5	2	2	3	4	rs111546873		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:60269505G>A	ENST00000016913.4	+	4	521	c.464G>A	c.(463-465)cGt>cAt	p.R155H	MS4A12_ENST00000537076.1_Missense_Mutation_p.R109H	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	155						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GAGCTTTCCCGTTGTCTGGTA	0.393													55	70					0	0	0	0	A	60269505	G	A	60269505	3	1	444	1	0	0	0	0	1	0	0	0	9926	1145	40	1	474	1	MS4A12	11	60269505	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	4155466	60269505	74737011	63	87344											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455427	62455427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgggcggcaccgcaaggCggctgcaaggcccgaaggca	8	3	18	12	4	0	0	0	0	0	0	0	1	0	0	2	7	1	6	2	7	3	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:62455427C>T	ENST00000317449.4	-	2	1031	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	185						integral to membrane				cervix(1)|kidney(1)	2						CACCGCAAGGCGGCTGCAAGG	0.736													10	11					0	0	0	0	T	62455427	C	T	62455427	3	4	444	1	0	0	0	0	1	0	0	0	9102	768	27	1	166	1	LRRN4CL	11	62455427	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	2185922	62455427	72551089	64	87345											
FGF19	9965	broad.mit.edu	37	chr11	69514295	69514295	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggtacacattgtagccaTctgggcggatctcctcctcg	7	11	10	13	3	2	0	0	0	2	0	6	1	3	1	3	3	2	2	3	3	2	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:69514295T>A	ENST00000294312.3	-	3	1151	c.386A>T	c.(385-387)gAt>gTt	p.D129V		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	129					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			ATTGTAGCCATCTGGGCGGAT	0.562													14	458					0	0	0	0	A	69514295	T	A	69514295	3	1	444	1	0	0	0	0	1	0	0	0	5892	1435	50	5	268	5	FGF19	11	69514295	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	7058868	69514295	65492221	65	87346											
ANO1	55107	broad.mit.edu	37	chr11	69934124	69934124	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacgaggatgacaagcgCttccgcagggaggagtacga	12	5	14	10	4	0	1	0	1	0	0	1	6	1	4	2	3	3	3	2	3	3	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:69934124C>G	ENST00000355303.5	+	2	680	c.375C>G	c.(373-375)cgC>cgG	p.R125R	ANO1_ENST00000538023.1_Silent_p.R125R|ANO1_ENST00000398543.2_Silent_p.R9R|ANO1_ENST00000316296.5_Silent_p.R97R|ANO1_ENST00000530676.1_Silent_p.R9R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	125					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ATGACAAGCGCTTCCGCAGGG	0.677													15	143					0	0	0	0	G	69934124	C	G	69934124	2	3	444	1	0	0	0	0	0	0	0	1	694	784	28	4		4	ANO1	11	69934124	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	419829	69934124	65072392	66	87347											
C2CD3	26005	broad.mit.edu	37	chr11	73803466	73803466	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgttttcaattacctgatGactggttcctcaattctttc	7	19	5	10	0	3	2	2	2	1	0	5	2	4	2	2	1	1	2	2	1	3	7			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:73803466G>C	ENST00000334126.7	-	19	3738	c.3512C>G	c.(3511-3513)tCa>tGa	p.S1171*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S1171*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1171	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTACCTGATGACTGGTTCCT	0.408													25	351					0	0	0	0	C	73803466	G	C	73803466	4	2	444	1	0	0	0	0	0	1	0	0	2174	1294	45	2	2431	2	C2CD3	11	73803466	Nonsense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	3869342	73803466	61203050	67	87348											
ARHGDIB	397	broad.mit.edu	37	chr12	15095593	15095593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcctcctcaactggagTgaggaactcatactcctcag	10	8	11	12	0	3	1	3	1	0	0	5	4	5	4	3	3	4	0	3	3	3	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:15095593T>C	ENST00000228945.4	-	6	613	c.469A>G	c.(469-471)Act>Gct	p.T157A	ARHGDIB_ENST00000541644.1_Missense_Mutation_p.T157A|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.T157A|ARHGDIB_ENST00000539131.1_5'UTR	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	157					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TCAACTGGAGTGAGGAACTCA	0.517													9	225					0	0	0	0	C	15095593	T	C	15095593	3	2	444	1	0	0	0	0	1	0	0	0	893	1696	59	5	140	5	ARHGDIB	12	15095593	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08		15095593	118756302	68	87349											
PDE3A	5139	broad.mit.edu	37	chr12	20833083	20833083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcaggcatagaaaatCaatccctggaccagacccct	12	7	10	12	0	1	2	1	0	0	2	2	3	2	3	4	4	0	3	4	4	4	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:20833083C>A	ENST00000359062.3	+	16	3344	c.3304C>A	c.(3304-3306)Caa>Aaa	p.Q1102K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1102					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CATAGAAAATCAATCCCTGGA	0.468													41	272					3.76604e-16	4.26157e-16	1	0	A	20833083	C	A	20833083	3	1	444	1	0	0	0	0	1	0	0	0	11708	827	29	2	3366	2	PDE3A	12	20833083	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	5737490	20833083	113018812	69	87350											
RECQL	5965	broad.mit.edu	37	chr12	21628612	21628612	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagatatagacctaacctGaatttcattggctgaccatt	13	12	8	8	0	1	4	1	2	0	2	1	5	1	5	3	2	1	1	3	2	5	6			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:21628612G>A	ENST00000444129.2	-	9	1564	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	RECQL_ENST00000421138.2_Nonsense_Mutation_p.Q366*	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	366	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GACCTAACCTGAATTTCATTG	0.328								Other identified genes with known or suspected DNA repair function					46	63					0	0	0	0	A	21628612	G	A	21628612	4	1	444	1	0	0	0	0	0	1	0	0	13283	1299	45	2	881	2	RECQL	12	21628612	Nonsense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	795529	21628612	112223283	70	87351											
ITPR2	3709	broad.mit.edu	37	chr12	26553108	26553108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaccaccgccattccTgaggccctggttcagcacgg	7	6	9	19	2	1	1	1	1	0	0	2	1	2	1	7	3	1	2	7	3	0	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:26553108T>C	ENST00000381340.3	-	53	7899	c.7483A>G	c.(7483-7485)Agg>Ggg	p.R2495G	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2495					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCGCCATTCCTGAGGCCCTGG	0.428													6	185					0	0	0	0	C	26553108	T	C	26553108	3	2	444	1	0	0	0	0	1	0	0	0	7974	1579	55	5	642	5	ITPR2	12	26553108	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	4924496	26553108	107298787	71	87352											
CSRNP2	81566	broad.mit.edu	37	chr12	51467832	51467832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcgtacattcttcctcCgcagctgcttctgccgcttc	6	12	7	16	3	2	0	0	0	2	0	5	0	4	0	3	0	5	5	3	0	2	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:51467832C>T	ENST00000228515.1	-	3	482	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	62					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						ATTCTTCCTCCGCAGCTGCTT	0.488													46	121					0	0	0	0	T	51467832	C	T	51467832	3	4	444	1	0	0	0	0	1	0	0	0	3996	652	23	1	1458	1	CSRNP2	12	51467832	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	24914724	51467832	82384063	72	87353											
USP15	9958	broad.mit.edu	37	chr12	62798030	62798030	+	Frame_Shift_Del	DEL	T	T	-																															acactttcagtggaactggcTtttttcctcttgaccgagaa																										TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:62798030delT	ENST00000280377.5	+	22	2879	c.2821delT	c.(2821-2823)ttfs	p.F942fs	USP15_ENST00000393654.3_Frame_Shift_Del_p.F917fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.F913fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	942					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGGAACTGGCTTTTTTCCTCT	0.383													7	762	---	---	---	---					-	62798030	T	-	62798030	7	5	444	1	0	1	0	1	0	0	0	0	17142	1609	56	0	2816	0	USP15	12	62798030	Frame_Shift_Del	DEL	T	TCGA-KU-A66T-01A-11D-A30E-08	11330198	62798030	71053865	73	87354											
HELB	92797	broad.mit.edu	37	chr12	66717828	66717828	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccaggaatgcataccTctcagacttactacctgaaa	13	11	6	11	0	1	2	1	1	1	1	2	3	1	3	3	1	5	2	3	1	6	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:66717828T>A	ENST00000247815.4	+	10	2422	c.2363T>A	c.(2362-2364)cTc>cAc	p.L788H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	788					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGCATACCTCTCAGACTTA	0.348													12	552					0	0	0	0	A	66717828	T	A	66717828	3	1	444	1	0	0	0	0	1	0	0	0	7095	1551	54	5	2401	5	HELB	12	66717828	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	3919798	66717828	67134067	74	87355											
ACAD10	80724	broad.mit.edu	37	chr12	112150397	112150397	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcggcctgtgaaaaagacGatggaaattccgaaagattc	15	8	10	8	3	0	3	0	1	0	2	3	6	1	4	2	2	0	0	2	2	4	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:112150397G>A	ENST00000392636.2	+	0	986				ACAD10_ENST00000455480.2_Silent_p.T293T|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.T262T|ACAD10_ENST00000313698.4_Silent_p.T262T			Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10								acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGAAAAAGACGATGGAAATTC	0.443													4	150					0	0	0	0	A	112150397	G	A	112150397	1	1	444	1	0	0	0	0	0	0	0	0	108	1045	37	1		1	ACAD10	12	112150397	Translation_Start_Site	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	45432569	112150397	21701498	75	87356											
PLA2G1B	5319	broad.mit.edu	37	chr12	120759996	120759996	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttttgagaggtgatatTcaactctgacaatacttctt	11	16	7	7	0	3	3	1	3	2	1	3	4	3	3	0	1	3	1	0	1	4	7			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:120759996T>G	ENST00000308366.4	-	4	482	c.447A>C	c.(445-447)tgA>tgC	p.*149C	PLA2G1B_ENST00000549767.1_Nonstop_Mutation_p.*120C|PLA2G1B_ENST00000423423.3_3'UTR	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	0					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGTGATATTCAACTCTGAC	0.423													82	228					0	0	0	0	G	120759996	T	G	120759996	4	3	444	1	0	0	0	0	0	0	0	0	12066	1796	62	5	3	5	PLA2G1B	12	120759996	Nonstop_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	8609599	120759996	13091899	76	87357											
FLT3	2322	broad.mit.edu	37	chr13	28636117	28636117	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagtgtgatggaagcagaTacatccacttccacagcggc	11	8	11	11	1	0	2	0	1	0	1	2	3	2	3	2	2	4	2	2	2	2	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr13:28636117T>A	ENST00000380982.4	-	3	336	c.255A>T	c.(253-255)gtA>gtT	p.V85V	FLT3_ENST00000537084.1_Silent_p.V85V|FLT3_ENST00000241453.7_Silent_p.V85V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	85					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	TGGAAGCAGATACATCCACTT	0.552			"Mis, O"		"AML, ALL"								65	10					0	0	0	0	A	28636117	T	A	28636117	2	1	444	1	0	0	0	0	0	0	0	1	5987	1393	49	5		5	FLT3	13	28636117	Silent	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08		28636117	86533761	77	87358											
PAX9	5083	broad.mit.edu	37	chr14	37132259	37132266	+	Frame_Shift_Del	DEL	CAAGATCC	CAAGATCC	-																															gtctcgcacggctgcgtcagCaagatcctggcgcgatacaa																										TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:37132259_37132266delCAAGATCC	ENST00000361487.6	+	2	387_394	c.162_169delCAAGATCC	c.(160-171)agtgfs	p.SKIL54fs	PAX9_ENST00000402703.2_Frame_Shift_Del_p.SKIL54fs|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	54	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCTGCGTCAGCAAGATCCTGGCGCGATA	0.644													13	85	---	---	---	---					-	37132266	CAAGATCC	-	37132259	7	5	444	1	0	1	0	1	0	0	0	0	11557	709	25	0	168	0	PAX9	14	37132259	Frame_Shift_Del	DEL	CAAGATCC	TCGA-KU-A66T-01A-11D-A30E-08		37132259	70217281	78	87359											
CYFIP1	23191	broad.mit.edu	37	chr15	22997855	22997855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccagaacatcttgccgcGagtccatgtgaaaggtgagc	10	10	11	10	2	1	3	0	2	1	1	3	4	3	3	3	1	3	0	3	1	2	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:22997855G>A	ENST00000313077.7	+	27	3226	c.3101G>A	c.(3100-3102)cGa>cAa	p.R1034Q	CYFIP1_ENST00000435939.2_Missense_Mutation_p.R603Q|CYFIP1_ENST00000560848.1_Missense_Mutation_p.R1034Q	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1034					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATCTTGCCGCGAGTCCATGTG	0.567													51	66					0	0	0	0	A	22997855	G	A	22997855	3	1	444	1	0	0	0	0	1	0	0	0	4169	1058	37	1	3584	1	CYFIP1	15	22997855	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08		22997855	79533537	79	87360											
HERC2	8924	broad.mit.edu	37	chr15	28502312	28502312	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcactcacctgccgaagcagGagatccagctgctcaaaagt	12	7	9	13	1	3	1	3	0	0	1	4	3	4	1	3	1	4	3	3	1	3	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:28502312G>C	ENST00000261609.7	-	17	2520	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	804					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCGAAGCAGGAGATCCAGCT	0.562													37	37					0	0	0	0	C	28502312	G	C	28502312	2	2	444	1	0	0	0	0	0	0	0	1	7108	1161	41	2		2	HERC2	15	28502312	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	5504457	28502312	74029080	80	87361											
CA12	771	broad.mit.edu	37	chr15	63637739	63637739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgggtcattcgggttcccCcagtgcaggtgcagctgcgt	4	10	15	12	3	1	0	1	0	0	0	3	0	2	0	2	3	5	4	2	3	0	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:63637739C>G	ENST00000178638.3	-	4	806	c.366G>C	c.(364-366)tgG>tgC	p.W122C	CA12_ENST00000344366.3_Missense_Mutation_p.W122C|CA12_ENST00000422263.2_Missense_Mutation_p.W62C	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	122					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TCGGGTTCCCCCAGTGCAGGT	0.652													3	31					0	0	0	0	G	63637739	C	G	63637739	3	3	444	1	0	0	0	0	1	0	0	0	2538	624	22	4	730	4	CA12	15	63637739	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	35135427	63637739	38893653	81	87362											
DET1	55070	broad.mit.edu	37	chr15	89074648	89074648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccttcgtatccctgcaGtaggtcctctgctgcctggc	3	14	9	15	1	2	0	0	0	2	0	6	0	4	0	4	2	3	4	4	2	2	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:89074648G>T	ENST00000564406.1	-	3	482	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	DET1_ENST00000558413.1_Missense_Mutation_p.L52M|DET1_ENST00000268148.8_Missense_Mutation_p.L97M|DET1_ENST00000444300.1_Missense_Mutation_p.L108M	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	97						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TATCCCTGCAGTAGGTCCTCT	0.488													37	43					3.62531e-18	4.12949e-18	1	0	T	89074648	G	T	89074648	3	4	444	1	0	0	0	0	1	0	0	0	4487	1020	36	4	1379	4	DET1	15	89074648	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	25436909	89074648	13456744	82	87363											
CASKIN1	57524	broad.mit.edu	37	chr16	2233699	2233699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggccgctgatctctgccGcgatcttcttccggtggccc	3	12	11	15	4	3	1	0	1	3	0	5	2	4	1	4	3	1	1	4	3	1	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:2233699G>A	ENST00000343516.6	-	16	1669	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	526	SAM 1.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GATCTCTGCCGCGATCTTCTT	0.652													15	38					0	0	0	0	A	2233699	G	A	2233699	3	1	444	1	0	0	0	0	1	0	0	0	2691	1087	38	1	2738	1	CASKIN1	16	2233699	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08		2233699	88121054	83	87364											
GSPT1	2935	broad.mit.edu	37	chr16	11969699	11969699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttcctgctgtccttaagcGagcaatgcatacttgatctt	8	14	9	10	1	1	1	0	1	1	0	3	2	3	1	2	1	5	4	2	1	3	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:11969699G>A	ENST00000434724.2	-	14	1979	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.R593C|GSPT1_ENST00000563468.1_Missense_Mutation_p.R456C|GSPT1_ENST00000420576.2_Missense_Mutation_p.R456C	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	456					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GTCCTTAAGCGAGCAATGCAT	0.423													19	43					0	0	0	0	A	11969699	G	A	11969699	3	1	444	1	0	0	0	0	1	0	0	0	6876	1058	37	1	141	1	GSPT1	16	11969699	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	9736000	11969699	78385054	84	87365											
ASPHD1	253982	broad.mit.edu	37	chr16	29912956	29912956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcttccctgccattttgCgggacttcggggctgtgagc	4	11	14	12	2	0	1	0	1	0	0	2	2	1	2	2	3	4	3	2	3	0	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:29912956C>T	ENST00000308748.5	+	1	916	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	222					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGCCATTTTGCGGGACTTCGG	0.667													4	116					0	0	0	0	T	29912956	C	T	29912956	3	4	444	1	0	0	0	0	1	0	0	0	1058	759	27	1	666	1	ASPHD1	16	29912956	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	17943257	29912956	60441797	85	87366											
TAOK2	9344	broad.mit.edu	37	chr16	29998209	29998209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgggacatggagcttGtgggggaaggaggatgagag	10	6	22	3	0	0	1	0	1	0	1	0	8	0	6	0	7	1	2	0	7	1	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:29998209G>C	ENST00000308893.4	+	16	3659	c.2616G>C	c.(2614-2616)ttG>ttC	p.L872F	TAOK2_ENST00000416441.2_Missense_Mutation_p.L699F|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.L759F	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	872	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CATGGAGCTTGTGGGGGAAGG	0.597													19	37					0	0	0	0	C	29998209	G	C	29998209	3	2	444	1	0	0	0	0	1	0	0	0	15639	1368	48	4	2674	4	TAOK2	16	29998209	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	85253	29998209	60356544	86	87367											
FTO	79068	broad.mit.edu	37	chr16	53922747	53922747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctttatggtccacaggtcGagtttgagtggctgaggcag	7	12	14	8	1	1	2	0	2	1	0	3	3	2	2	1	4	0	3	1	4	1	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:53922747G>C	ENST00000471389.1	+	7	1345	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	FTO_ENST00000431610.2_5'UTR|FTO_ENST00000394647.3_Missense_Mutation_p.E79Q|FTO_ENST00000460382.1_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	375					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TCCACAGGTCGAGTTTGAGTG	0.458													52	148					0	0	0	0	C	53922747	G	C	53922747	3	2	444	1	0	0	0	0	1	0	0	0	6134	1059	37	3	1149	3	FTO	16	53922747	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	23924538	53922747	36432006	87	87368											
BBS2	583	broad.mit.edu	37	chr16	56536340	56536340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgaggttgcccctcatCtcagccgtgccaggcaggta	7	9	11	14	1	2	1	2	1	1	0	4	1	3	1	5	3	3	3	5	3	1	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:56536340C>T	ENST00000245157.5	-	9	1389	c.969G>A	c.(967-969)gaG>gaA	p.E323E	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Silent_p.E323E	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	323					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGCCCCTCATCTCAGCCGTGC	0.498									Bardet-Biedl syndrome				29	73					0	0	0	0	T	56536340	C	T	56536340	2	4	444	1	0	0	0	0	0	0	0	1	1342	912	32	2		2	BBS2	16	56536340	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	2613593	56536340	33818413	88	87369											
NUP93	9688	broad.mit.edu	37	chr16	56875706	56875706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggacaagtccatcctcGtcatccaggccccagcgagt	10	6	11	14	2	1	0	1	0	0	0	5	2	4	1	5	3	1	0	5	3	2	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:56875706G>A	ENST00000564887.1	+	19	2570	c.1941G>A	c.(1939-1941)tcG>tcA	p.S647S	NUP93_ENST00000308159.5_Silent_p.S770S|NUP93_ENST00000569842.1_Silent_p.S770S|NUP93_ENST00000542526.1_Silent_p.S647S	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	770					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTCCATCCTCGTCATCCAGGC	0.507													39	81					0	0	0	0	A	56875706	G	A	56875706	2	1	444	1	0	0	0	0	0	0	0	1	10843	1132	40	1		1	NUP93	16	56875706	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	339366	56875706	33479047	89	87370											
FHOD1	29109	broad.mit.edu	37	chr16	67271185	67271185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcgacgtcagtgcccGcagtgcccaggtggcgctgg	5	6	17	13	4	1	0	1	0	0	0	2	1	1	0	2	4	2	3	2	4	0	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:67271185G>A	ENST00000258201.4	-	9	1197	c.950C>T	c.(949-951)gCg>gTg	p.A317V	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	317	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTCAGTGCCCGCAGTGCCCAG	0.652													4	98					0	0	0	0	A	67271185	G	A	67271185	3	1	444	1	0	0	0	0	1	0	0	0	5927	1087	38	1	2600	1	FHOD1	16	67271185	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	10395479	67271185	23083568	90	87371											
TP53	7157	broad.mit.edu	37	chr17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggcacaaacacgcacctCaaagctgttccgtcccagta	13	6	7	15	2	1	0	1	0	0	0	3	0	3	0	3	1	2	5	3	1	3	2	rs67389650		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:7577127C>T	ENST00000420246.2	-	8	943	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000269305.4_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)		ACACGCACCTCAAAGCTGTTC	0.537		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)			33	2					0	0	0	0	T	7577127	C	T	7577127	3	4	444	1	0	0	0	0	1	0	0	0	16476	835	29	2	475	2	TP53	17	7577127	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08		7577127	73618083	91	87372											
PFAS	5198	broad.mit.edu	37	chr17	8172074	8172074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaacctgtctgggcgctaCgagtctcgctgggccagcgt	6	8	13	14	4	2	0	0	0	2	0	3	1	2	0	2	2	3	2	2	2	2	1	rs150119860		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:8172074C>T	ENST00000314666.6	+	27	3739	c.3606C>T	c.(3604-3606)taC>taT	p.Y1202Y	PFAS_ENST00000545834.1_Silent_p.Y778Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1202	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			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)	CTGGGCGCTACGAGTCTCGCT	0.701													39	76					0	0	0	0	T	8172074	C	T	8172074	2	4	444	1	0	0	0	0	0	0	0	1	11826	547	19	1		1	PFAS	17	8172074	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	594947	8172074	73023136	92	87373											
WDR16	146845	broad.mit.edu	37	chr17	9515647	9515647	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattcagttacaaggcggCatcacttctatcacacttcg	12	11	7	11	2	4	1	3	0	1	1	5	1	4	1	0	2	1	2	0	2	4	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:9515647C>A	ENST00000352665.5	+	8	945	c.876C>A	c.(874-876)ggC>ggA	p.G292G	WDR16_ENST00000396219.3_Silent_p.G224G|WDR16_ENST00000299764.5_Silent_p.G302G	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	292						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TACAAGGCGGCATCACTTCTA	0.438													6	77					5.9392e-07	6.42479e-07	1	0	A	9515647	C	A	9515647	2	1	444	1	0	0	0	0	0	0	0	1	17372	697	25	4		4	WDR16	17	9515647	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	1343573	9515647	71679563	93	87374											
NOS2	4843	broad.mit.edu	37	chr17	26115877	26115877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcttggaaagtcatcccGctgccccagtttttgatcct	6	14	9	12	1	2	1	1	1	1	0	4	2	4	2	4	1	1	2	4	1	1	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:26115877G>A	ENST00000313735.6	-	4	509	c.276C>T	c.(274-276)agC>agT	p.S92S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	92					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AAGTCATCCCGCTGCCCCAGT	0.542													4	160					0	0	0	0	A	26115877	G	A	26115877	2	1	444	1	0	0	0	0	0	0	0	1	10613	1078	38	1		1	NOS2	17	26115877	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	16600230	26115877	55079333	94	87375											
LHX1	3975	broad.mit.edu	37	chr17	35297710	35297710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgtgtaacaagcagctCtccactggcgaggaactcta	12	9	10	10	1	2	1	0	1	2	0	3	3	2	2	1	2	4	3	1	2	4	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:35297710C>T	ENST00000254457.5	+	2	1705	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	98	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACAAGCAGCTCTCCACTGGCG	0.522													22	45					0	0	0	0	T	35297710	C	T	35297710	2	4	444	1	0	0	0	0	0	0	0	1	8824	900	32	2		2	LHX1	17	35297710	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	9181833	35297710	45897500	95	87376											
BRIP1	83990	broad.mit.edu	37	chr17	59878828	59878828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccatgataaaaatagcagGattttccctagaaacaaata	18	10	5	8	0	0	2	0	1	0	1	2	3	2	3	2	1	2	1	2	1	8	6			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:59878828G>T	ENST00000259008.2	-	8	1193	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	BRIP1_ENST00000577598.1_Missense_Mutation_p.S309Y	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	309	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAAATAGCAGGATTTTCCCTA	0.338			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					18	76					5.03518e-11	5.66047e-11	1	0	T	59878828	G	T	59878828	3	4	444	1	0	0	0	0	1	0	0	0	1522	1174	41	2	2875	2	BRIP1	17	59878828	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	24581118	59878828	21316382	96	87377											
SMURF2	64750	broad.mit.edu	37	chr17	62582206	62582206	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgatgttagcttacccGtctggtaaatcgttatcaaa	11	14	8	8	2	3	1	2	1	1	0	4	1	3	1	1	1	2	4	1	1	6	4	rs149849389		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:62582206G>A	ENST00000262435.9	-	6	670	c.483C>T	c.(481-483)gaC>gaT	p.D161D	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	161	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TAGCTTACCCGTCTGGTAAAT	0.333													24	129					0	0	0	0	A	62582206	G	A	62582206	2	1	444	1	0	0	0	0	0	0	0	1	14908	1136	40	1		1	SMURF2	17	62582206	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	2703378	62582206	18613004	97	87378											
PSMD12	5718	broad.mit.edu	37	chr17	65344755	65344755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagtcagtcgcgcacgctCaatttcaacataaatctaca	13	12	5	11	3	4	0	3	0	1	0	5	0	4	0	0	0	2	2	0	0	6	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:65344755C>T	ENST00000356126.3	-	5	528	c.421G>A	c.(421-423)Gag>Aag	p.E141K	PSMD12_ENST00000357146.4_Missense_Mutation_p.E121K	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CGCGCACGCTCAATTTCAACA	0.363													10	63					0	0	0	0	T	65344755	C	T	65344755	3	4	444	1	0	0	0	0	1	0	0	0	12774	835	29	2	977	2	PSMD12	17	65344755	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	2762549	65344755	15850455	98	87379											
GRIN2C	2905	broad.mit.edu	37	chr17	72850931	72850931	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggccaccgcctcggTgtccacgttgtcctcaaaga	7	9	11	14	3	2	1	1	0	1	1	5	2	4	1	5	2	0	1	5	2	1	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:72850931T>A	ENST00000293190.5	-	2	447	c.301A>T	c.(301-303)Acc>Tcc	p.T101S	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.T101S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	101					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACCGCCTCGGTGTCCACGTTG	0.627													6	35					0	0	0	0	A	72850931	T	A	72850931	3	1	444	1	0	0	0	0	1	0	0	0	6831	1696	59	5	3448	5	GRIN2C	17	72850931	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	7506176	72850931	8344279	99	87380											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate								7	416					0	0	0	0	C	76993313	T	C	76993313	3	2	444	1	0	0	0	0	1	0	0	0	2642	1609	56	5	825	5	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	4142382	76993313	4201897	100	87381											
EPB41L3	23136	broad.mit.edu	37	chr18	5415870	5415870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagggaggcgctcaaggaggCcgccttgggctccaggtagc	7	6	17	11	2	1	0	1	0	0	0	2	2	2	2	3	6	1	3	3	6	3	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:5415870C>A	ENST00000341928.2	-	13	2354	c.2014G>T	c.(2014-2016)Gcc>Tcc	p.A672S	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A672S|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	672	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			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						CTCAAGGAGGCCGCCTTGGGC	0.562													21	85					4.4004e-07	4.79031e-07	1	0	A	5415870	C	A	5415870	3	1	444	1	0	0	0	0	1	0	0	0	5192	739	26	4	1289	4	EPB41L3	18	5415870	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08		5415870	72661378	101	87382											
PTPRM	5797	broad.mit.edu	37	chr18	8387166	8387166	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctccttcttgaagctcAttcgccaggtggacaagtgg	8	10	12	11	2	2	1	1	1	1	0	4	2	3	2	2	3	2	2	2	3	2	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:8387166A>G	ENST00000332175.8	+	29	5139	c.4102A>G	c.(4102-4104)Att>Gtt	p.I1368V	PTPRM_ENST00000444013.1_Missense_Mutation_p.I1155V|PTPRM_ENST00000400053.4_Missense_Mutation_p.I1306V|PTPRM_ENST00000400060.4_Missense_Mutation_p.I1382V|PTPRM_ENST00000580170.1_Missense_Mutation_p.I1381V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1368	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTGAAGCTCATTCGCCAGGT	0.542													54	36					0	0	0	0	G	8387166	A	G	8387166	3	3	444	1	0	0	0	0	1	0	0	0	12888	217	8	5	4263	5	PTPRM	18	8387166	Missense_Mutation	SNP	A	TCGA-KU-A66T-01A-11D-A30E-08	2971296	8387166	69690082	102	87383											
KLHL14	57565	broad.mit.edu	37	chr18	30260407	30260407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccattgtgcactgctcccGcatgagccgccagaggctgt	6	9	11	15	2	0	2	0	1	0	1	2	2	2	2	4	1	3	4	4	1	0	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:30260407G>A	ENST00000359358.4	-	6	1832	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	465						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACTGCTCCCGCATGAGCCGC	0.463													4	105					0	0	0	0	A	30260407	G	A	30260407	3	1	444	1	0	0	0	0	1	0	0	0	8422	1087	38	1	508	1	KLHL14	18	30260407	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	21873241	30260407	47816841	103	87384											
SHC2	25759	broad.mit.edu	37	chr19	425196	425196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggtccggggggccccGggcgtccgcctgcacgtagc	2	6	17	16	6	0	0	0	0	0	0	3	0	2	0	5	5	2	2	5	5	1	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:425196G>A	ENST00000264554.6	-	10	1209	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	404	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGGCCCCGGGCGTCCGCC	0.687													17	36					0	0	0	0	A	425196	G	A	425196	3	1	444	1	0	0	0	0	1	0	0	0	14359	1115	39	1	550	1	SHC2	19	425196	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08		425196	58703787	104	87385											
SH3GL1	6455	broad.mit.edu	37	chr19	4363716	4363716	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaccccgagctactcaCgtcagtctccaggaggttgt	8	9	11	13	2	3	1	2	1	1	0	4	3	3	2	3	2	2	2	3	2	1	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:4363716C>A	ENST00000269886.3	-	6	803		c.e6+1		SH3GL1_ENST00000417295.2_Splice_Site|SH3GL1_ENST00000598564.1_Splice_Site	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GAGCTACTCACGTCAGTCTCC	0.617			T	MLL	AL								22	92					1.10923e-09	1.23089e-09	1	0	A	4363716	C	A	4363716	5	1	444	1	0	0	0	0	0	0	1	0	14338	550	19	3	501	3	SH3GL1	19	4363716	Splice_Site	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	3938520	4363716	54765267	105	87386											
ICAM5	7087	broad.mit.edu	37	chr19	10405162	10405162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgcgctggcctgcgccgcCcggggtcgcccttccccagg	1	6	14	20	6	0	0	0	0	0	0	3	0	2	0	7	4	1	1	7	4	0	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:10405162C>T	ENST00000221980.4	+	9	2139	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	692	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTGCGCCGCCCGGGGTCGCC	0.672													6	34					0	0	0	0	T	10405162	C	T	10405162	2	4	444	1	0	0	0	0	0	0	0	1	7536	610	22	4		4	ICAM5	19	10405162	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	6041446	10405162	48723821	106	87387											
MAST1	22983	broad.mit.edu	37	chr19	12984818	12984818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggacaagaagggcgcgctgCgcaaacacagcctcgaggtg	11	3	15	12	5	0	1	0	0	0	1	1	3	0	2	1	3	3	2	1	3	3	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:12984818C>A	ENST00000251472.4	+	26	3886	c.3847C>A	c.(3847-3849)Cgc>Agc	p.R1283S		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1283					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGGCGCGCTGCGCAAACACAG	0.677													14	6					4.35082e-09	4.79705e-09	1	0	A	12984818	C	A	12984818	3	1	444	1	0	0	0	0	1	0	0	0	9393	768	27	3	3949	3	MAST1	19	12984818	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	2579656	12984818	46144165	107	87388											
CYP4F12	66002	broad.mit.edu	37	chr19	15789115	15789115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaactcgacccagatgtcGgccacctattcccagggctt	10	8	9	14	2	0	2	0	0	0	2	3	3	1	2	4	2	1	1	4	2	3	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:15789115G>A	ENST00000550308.1	+	3	623	c.243G>A	c.(241-243)tcG>tcA	p.S81S	CYP4F12_ENST00000324632.9_Silent_p.S81S	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCAGATGTCGGCCACCTATT	0.512													32	127					0	0	0	0	A	15789115	G	A	15789115	2	1	444	1	0	0	0	0	0	0	0	1	4219	1103	39	1		1	CYP4F12	19	15789115	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	2804297	15789115	43339868	108	87389											
MAST3	23031	broad.mit.edu	37	chr19	18241317	18241317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccagggccgtctacctgGtgcggcaccgtgacacacgg	6	6	13	16	4	1	1	0	1	1	0	2	1	2	1	5	4	2	1	5	4	1	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:18241317G>C	ENST00000262811.5	+	13	1150	c.1150G>C	c.(1150-1152)Gtg>Ctg	p.V384L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	384	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGTCTACCTGGTGCGGCACCG	0.592													5	29					0	0	0	0	C	18241317	G	C	18241317	3	2	444	1	0	0	0	0	1	0	0	0	9395	1261	44	4	1200	4	MAST3	19	18241317	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	2452202	18241317	40887666	109	87390											
ANKRD27	84079	broad.mit.edu	37	chr19	33113426	33113426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctctatgacgccttggtAgccccagcgggcagcaatgt	7	10	12	12	2	1	1	0	1	1	0	2	1	1	1	3	2	3	3	3	2	3	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:33113426A>G	ENST00000306065.4	-	18	1887	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	577					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACGCCTTGGTAGCCCCAGCGG	0.532													9	186					0	0	0	0	G	33113426	A	G	33113426	3	3	444	1	0	0	0	0	1	0	0	0	655	420	15	5	1471	5	ANKRD27	19	33113426	Missense_Mutation	SNP	A	TCGA-KU-A66T-01A-11D-A30E-08	14872109	33113426	26015557	110	87391											
SPTBN4	57731	broad.mit.edu	37	chr19	41025959	41025959	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttggctggcataaactgctCggcttgtgggaggcgcgcag	6	9	16	10	3	0	0	0	0	0	0	1	1	0	1	0	5	2	5	0	5	2	3	rs74764137	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:41025959C>G	ENST00000352632.3	+	16	3641	c.3555C>G	c.(3553-3555)ctC>ctG	p.L1185L	SPTBN4_ENST00000344104.3_Silent_p.L1185L|SPTBN4_ENST00000598249.1_Silent_p.L1185L|SPTBN4_ENST00000338932.3_Silent_p.L1185L|SPTBN4_ENST00000595535.1_Silent_p.L1185L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1185					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAAACTGCTCGGCTTGTGGG	0.687													9	43					0	0	0	0	G	41025959	C	G	41025959	2	3	444	1	0	0	0	0	0	0	0	1	15211	871	31	3		3	SPTBN4	19	41025959	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	7912533	41025959	18103024	111	87392											
C19orf54	284325	broad.mit.edu	37	chr19	41249885	41249885	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcctcgtcgtagctggTgctggcattaaggtaaaaac	11	10	12	8	2	0	0	0	0	0	0	3	1	1	0	1	3	3	5	1	3	6	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:41249885T>C	ENST00000470681.1	-	5	530	c.103_splice	c.e5-1	p.A35_splice	C19orf54_ENST00000339153.3_Splice_Site_p.T43_splice|C19orf54_ENST00000378313.2_Intron|C19orf54_ENST00000598729.1_Splice_Site_p.T43_splice|C19orf54_ENST00000598485.2_Splice_Site_p.T43_splice			Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	0	Pro-rich.									breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCGTAGCTGGTGCTGGCATTA	0.617													6	116					0	0	0	0	C	41249885	T	C	41249885	5	2	444	1	0	0	0	0	0	0	1	0	1954	1711	59	5		5	C19orf54	19	41249885	Splice_Site	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	223926	41249885	17879098	112	87393											
TMEM145	284339	broad.mit.edu	37	chr19	42824573	42824573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggggatccacttgtacgCccatggcgtgtttctggtga	5	12	14	10	2	1	1	0	1	1	0	2	2	2	2	2	4	1	3	2	4	1	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:42824573C>G	ENST00000598766.1	+	13	1250	c.1250C>G	c.(1249-1251)gCc>gGc	p.A417G	TMEM145_ENST00000301204.3_Missense_Mutation_p.A393G			Q8NBT3	TM145_HUMAN	transmembrane protein 145	393						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CACTTGTACGCCCATGGCGTG	0.592													26	92					0	0	0	0	G	42824573	C	G	42824573	3	3	444	1	0	0	0	0	1	0	0	0	16153	739	26	4	1228	4	TMEM145	19	42824573	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	1574688	42824573	16304410	113	87394											
PIH1D1	55011	broad.mit.edu	37	chr19	49952900	49952900	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttccgaggagttggtctTtatgcagaaacctggtggga	8	11	13	9	1	1	1	0	0	1	1	2	4	2	3	3	4	2	2	3	4	2	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:49952900T>A	ENST00000262265.5	-	3	404	c.169A>T	c.(169-171)Aag>Tag	p.K57*	PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.K57*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	57					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GAGTTGGTCTTTATGCAGAAA	0.527													6	53					0	0	0	0	A	49952900	T	A	49952900	4	1	444	1	0	0	0	0	0	1	0	0	11978	1850	64	5	731	5	PIH1D1	19	49952900	Nonsense_Mutation	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	7128327	49952900	9176083	114	87395											
SBK2	646643	broad.mit.edu	37	chr19	56041199	56041199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctgatggcgatcacagcGctcctccttcgggggtgagg	5	9	14	13	3	1	2	1	2	0	0	5	3	4	2	3	4	1	1	3	4	0	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:56041199G>A	ENST00000413299.1	-	4	985	c.948C>T	c.(946-948)agC>agT	p.S316S	SBK2_ENST00000344158.3_Silent_p.S316S	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	316	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGATCACAGCGCTCCTCCTTC	0.756													15	50					0	0	0	0	A	56041199	G	A	56041199	2	1	444	1	0	0	0	0	0	0	0	1	13947	1078	38	1		1	SBK2	19	56041199	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	6088299	56041199	3087784	115	87396											
ZNF835	90485	broad.mit.edu	37	chr19	57175946	57175946	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccggtgctgggtcaggtgCgtgacgcgcgtgaaggcctt	4	8	18	11	6	1	2	1	2	0	0	1	2	1	2	2	4	2	1	2	4	1	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:57175946C>T	ENST00000537055.2	-	2	852	c.621G>A	c.(619-621)acG>acA	p.T207T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGTCAGGTGCGTGACGCGCG	0.721													8	32					0	0	0	0	T	57175946	C	T	57175946	2	4	444	1	0	0	0	0	0	0	0	1	18279	755	27	1		1	ZNF835	19	57175946	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	1134747	57175946	1953037	116	87397											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596526	58596526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaggctgctggatgacGgactgcctctgcgatccggt	5	8	17	11	3	1	1	0	1	1	0	2	4	2	3	2	6	3	3	2	6	0	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:58596526G>A	ENST00000240727.6	-	7	1458	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	ZSCAN18_ENST00000600404.1_Silent_p.S409S|ZSCAN18_ENST00000601144.1_Silent_p.S353S|ZSCAN18_ENST00000421612.2_Silent_p.S217S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTGGATGACGGACTGCCTCT	0.697													17	30					0	0	0	0	A	58596526	G	A	58596526	2	1	444	1	0	0	0	0	0	0	0	1	18322	1103	39	1		1	ZSCAN18	19	58596526	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	1420580	58596526	532457	117	87398											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596701	58596701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcacccccgcgggggcgGcctcctcgcaggcgcaccca	5	2	14	20	5	0	0	0	0	0	0	2	0	1	0	5	4	1	4	5	4	0	0	rs75484882		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:58596701G>A	ENST00000240727.6	-	7	1283	c.884C>T	c.(883-885)gCc>gTc	p.A295V	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A351V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A295V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A159V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	295					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGGGCGGCCTCCTCGCA	0.736													6	31					0	0	0	0	A	58596701	G	A	58596701	3	1	444	1	0	0	0	0	1	0	0	0	18322	1203	42	4	652	4	ZSCAN18	19	58596701	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	175	58596701	532282	118	87399											
POTEH	23784	broad.mit.edu	37	chr22	16287550	16287550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccacgttgctcttgccGctccccctgcagcaggggaa	5	8	12	16	2	1	0	0	0	1	0	2	1	2	1	4	2	5	5	4	2	1	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:16287550G>A	ENST00000343518.6	-	1	387	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	112								p.S112S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCTCTTGCCGCTCCCCCTGC	0.587													78	110					0	0	0	0	A	16287550	G	A	16287550	2	1	444	1	0	0	0	0	0	0	0	1	12339	1078	38	1		1	POTEH	22	16287550	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08		16287550	35017016	119	87400											
IL17RA	23765	broad.mit.edu	37	chr22	17586805	17586805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgctggtgggctccGtcatcctgctcatcgtctgc	3	12	10	16	2	3	0	2	0	1	0	7	0	6	0	4	2	3	3	4	2	0	0	rs138404135		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:17586805G>A	ENST00000319363.6	+	11	1139	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	336					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGTGGGCTCCGTCATCCTGCT	0.607													42	24					0	0	0	0	A	17586805	G	A	17586805	3	1	444	1	0	0	0	0	1	0	0	0	7692	1145	40	1	1048	1	IL17RA	22	17586805	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	1299255	17586805	33717761	120	87401											
RTDR1	27156	broad.mit.edu	37	chr22	23401887	23401887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgtgcctccagggccGcatacttccctgcaggccac	5	9	11	16	1	0	0	0	0	0	0	2	0	2	0	5	3	3	3	5	3	1	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:23401887G>A	ENST00000216036.4	-	7	996	c.800C>T	c.(799-801)gCg>gTg	p.A267V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	267							binding	p.A267V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCAGGGCCGCATACTTCCC	0.632													4	131					0	0	0	0	A	23401887	G	A	23401887	3	1	444	1	0	0	0	0	1	0	0	0	13804	1087	38	1	250	1	RTDR1	22	23401887	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	5815082	23401887	27902679	121	87402											
APOBEC3B	9582	broad.mit.edu	37	chr22	39378468	39378468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctgaacatgaatccaCagatcaggtaccgctgccca	13	6	10	12	1	1	4	1	2	0	2	2	4	2	4	3	2	3	3	3	2	3	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:39378468C>G	ENST00000402182.3	+	1	65	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.Q4E|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.Q4E			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	4					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CATGAATCCACAGATCAGGTA	0.602													53	47					0	0	0	0	G	39378468	C	G	39378468	3	3	444	1	0	0	0	0	1	0	0	0	792	479	17	4	12	4	APOBEC3B	22	39378468	Missense_Mutation	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	15976581	39378468	11926098	122	87403											
BRWD3	254065	broad.mit.edu	37	chrX	80001091	80001091	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattcttctcccgcttcGgtcaaatgctacacagtaga	13	11	6	11	2	3	1	1	0	2	1	5	1	3	1	1	1	2	3	1	1	5	5			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:80001091G>A	ENST00000373275.4	-	7	784	c.568C>T	c.(568-570)Cga>Tga	p.R190*		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	190										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCCGCTTCGGTCAAATGCT	0.378													21	21					0	0	0	0	A	80001091	G	A	80001091	4	1	444	1	0	0	0	0	0	1	0	0	1534	1124	39	1	4980	1	BRWD3	23	80001091	Nonsense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08		80001091	75269469	123	87404											
ZMAT1	84460	broad.mit.edu	37	chrX	101139591	101139591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctcaaatgggagtctttGttcaaacattctatgtctgg	10	15	9	7	0	5	0	2	0	4	0	6	1	5	1	0	2	1	1	0	2	3	4			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:101139591G>C	ENST00000458570.1	-	9	1625	c.295C>G	c.(295-297)Caa>Gaa	p.Q99E	ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q270E|ZMAT1_ENST00000372782.3_Missense_Mutation_p.Q270E|ZMAT1_ENST00000494068.1_5'UTR			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	99						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GGGAGTCTTTGTTCAAACATT	0.418													12	138					0	0	0	0	C	101139591	G	C	101139591	3	2	444	1	0	0	0	0	1	0	0	0	17786	1386	48	4	1112	4	ZMAT1	23	101139591	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	21138500	101139591	54130969	124	87405											
MORF4L2	9643	broad.mit.edu	37	chrX	102931680	102931680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagggggctgaggtgcttcGctggtactgccaccatctcc	5	9	14	13	2	1	1	0	1	1	0	3	2	1	1	3	4	3	4	3	4	1	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:102931680G>A	ENST00000423833.2	-	3	1501	c.276C>T	c.(274-276)agC>agT	p.S92S	MORF4L2_ENST00000433176.2_Silent_p.S92S|MORF4L2_ENST00000441076.2_Silent_p.S92S|MORF4L2_ENST00000360458.1_Silent_p.S92S|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000451301.1_Silent_p.S92S|MORF4L2_ENST00000422154.2_Silent_p.S92S|MORF4L2_ENST00000492116.1_5'UTR			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	92					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GAGGTGCTTCGCTGGTACTGC	0.547													28	156					0	0	0	0	A	102931680	G	A	102931680	2	1	444	1	0	0	0	0	0	0	0	1	9777	1078	38	1		1	MORF4L2	23	102931680	Silent	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	1792089	102931680	52338880	125	87406											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220641	130220641	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagccttctgatgaaggTcagttccctgctggaggtca	9	10	12	10	0	3	2	2	2	1	0	4	3	4	3	2	3	3	3	2	3	2	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:130220641T>A	ENST00000276211.5	+	11	1831		c.e11+2		ARHGAP36_ENST00000370921.1_Splice_Site|ARHGAP36_ENST00000370922.1_Splice_Site	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			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						CTGATGAAGGTCAGTTCCCTG	0.537													24	65					0	0	0	0	A	130220641	T	A	130220641	5	1	444	1	0	0	0	0	0	0	1	0	885	1681	58	5	1526	5	ARHGAP36	23	130220641	Splice_Site	SNP	T	TCGA-KU-A66T-01A-11D-A30E-08	27288961	130220641	25049919	126	87407											
LDOC1	23641	broad.mit.edu	37	chrX	140271120	140271120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacaccagcagccgcagCtgttccatgagctggctgtt	7	9	11	14	2	0	1	0	1	0	0	2	1	1	1	3	1	4	8	3	1	0	2			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:140271120C>T	ENST00000370526.2	-	1	190	c.87G>A	c.(85-87)caG>caA	p.Q29Q	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	29					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GCAGCCGCAGCTGTTCCATGA	0.662													27	17					0	0	0	0	T	140271120	C	T	140271120	2	4	444	1	0	0	0	0	0	0	0	1	8762	796	28	4		4	LDOC1	23	140271120	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	10050479	140271120	14999440	127	87408											
NSDHL	50814	broad.mit.edu	37	chrX	152018844	152018844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgatcggtggctctggattCctggggcagcacatggtgga	6	10	17	8	1	1	1	0	1	1	0	3	3	2	3	1	7	1	3	1	7	0	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:152018844C>T	ENST00000370274.3	+	3	338	c.144C>T	c.(142-144)ttC>ttT	p.F48F	NSDHL_ENST00000440023.1_Silent_p.F48F	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	48					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCTCTGGATTCCTGGGGCAGC	0.527													87	214					0	0	0	0	T	152018844	C	T	152018844	2	4	444	1	0	0	0	0	0	0	0	1	10741	854	30	2		2	NSDHL	23	152018844	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	11747724	152018844	3251716	128	87409											
SLC6A8	6535	broad.mit.edu	37	chrX	152959013	152959013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggctgcagagcagggCgtgcacatctccaaggtggc	8	8	14	11	1	2	1	1	0	1	1	3	1	2	1	1	4	3	4	1	4	1	1			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:152959013C>T	ENST00000253122.5	+	7	1589	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.G256G	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	371					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CAGAGCAGGGCGTGCACATCT	0.597													38	71					0	0	0	0	T	152959013	C	T	152959013	2	4	444	1	0	0	0	0	0	0	0	1	14778	755	27	1		1	SLC6A8	23	152959013	Silent	SNP	C	TCGA-KU-A66T-01A-11D-A30E-08	940169	152959013	2311547	129	87410											
FLNA	2316	broad.mit.edu	37	chrX	153592635	153592635	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgctctacctggacttGgacccgaagtggggccttgc	5	10	15	11	1	1	0	0	0	1	0	1	3	1	2	3	5	3	1	3	5	2	3			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:153592635G>A	ENST00000422373.1	-	14	2376	c.2128C>T	c.(2128-2130)Caa>Taa	p.Q710*	FLNA_ENST00000369850.3_Nonsense_Mutation_p.Q710*|FLNA_ENST00000360319.4_Nonsense_Mutation_p.Q710*|FLNA_ENST00000344736.4_Nonsense_Mutation_p.Q710*	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	710					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTGGACTTGGACCCGAAGT	0.642													66	206					0	0	0	0	A	153592635	G	A	153592635	4	1	444	1	0	0	0	0	0	1	0	0	5978	1357	47	4	5955	4	FLNA	23	153592635	Nonsense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	633622	153592635	1677925	130	87411											
CTAG2	30848	broad.mit.edu	37	chrX	153880851	153880851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtgcggcatcccgggacagGatcctgcggaccagctccgc	6	5	15	15	4	0	0	0	0	0	0	3	3	3	3	4	5	3	2	4	5	0	0			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:153880851G>C	ENST00000247306.4	-	2	387	c.324C>G	c.(322-324)atC>atG	p.I108M	CTAG2_ENST00000369585.3_Missense_Mutation_p.I108M	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	108						centrosome		p.I108I(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGGACAGGATCCTGCGGA	0.612													31	78					0	0	0	0	C	153880851	G	C	153880851	3	2	444	1	0	0	0	0	1	0	0	0	4023	1164	41	2	451	2	CTAG2	23	153880851	Missense_Mutation	SNP	G	TCGA-KU-A66T-01A-11D-A30E-08	288216	153880851	1389709	131	87412											
LRRC47	57470	broad.mit.edu	37	chr1	3712429	3712429	+	Silent	SNP	G	G	C																															gggcagcccccgctgaccttGagcgaggccaggtgggcgat																										TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:3712429G>C	ENST00000378251.1	-	1	639	c.612C>G	c.(610-612)ctC>ctG	p.L204L		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	204					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CGCTGACCTTGAGCGAGGCCA	0.701													4	3					0	0	0	0	C	3712429	G	C	3712429	2	2	445	1	0	0	0	0	0	0	0	1	9068	1277	45	2		2	LRRC47	1	3712429	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		3712429	245538192	1	87413	1087	2									
LRRC47	57470	broad.mit.edu	37	chr1	3712433	3712433	+	Missense_Mutation	SNP	G	G	A																															agcccccgctgaccttgagcGaggccaggtgggcgatgtcg																										TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:3712433G>A	ENST00000378251.1	-	1	635	c.608C>T	c.(607-609)tCg>tTg	p.S203L		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	203					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GACCTTGAGCGAGGCCAGGTG	0.701													4	3					0	0	0	0	A	3712433	G	A	3712433	3	1	445	1	0	0	0	0	1	0	0	0	9068	1059	37	1	1171	1	LRRC47	1	3712433	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	4	3712433	245538188	2	87414	1087	2									
LRRC47	57470	broad.mit.edu	37	chr1	3712633	3712633	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgcagccggttgccgctGaggttgaggctctgcagctg	4	9	16	12	4	1	2	0	2	1	0	2	2	1	2	2	3	4	7	2	3	0	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:3712633G>T	ENST00000378251.1	-	1	435	c.408C>A	c.(406-408)ctC>ctA	p.L136L		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	136					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGTTGCCGCTGAGGTTGAGGC	0.736													4	1					0.184627	0.184627	1	0	T	3712633	G	T	3712633	2	4	445	1	0	0	0	0	0	0	0	1	9068	1277	45	2		2	LRRC47	1	3712633	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	200	3712633	245537988	3	87415											
TNFRSF25	8718	broad.mit.edu	37	chr1	6522208	6522208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctagaagggtgtgggcGctgtccaagggtgacagatg	8	8	19	6	1	0	3	0	1	0	2	1	3	1	3	1	4	1	2	1	4	3	1	rs34221914	byFrequency	TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:6522208G>A	ENST00000377782.3	-	9	865	c.798C>T	c.(796-798)agC>agT	p.S266S	TNFRSF25_ENST00000356876.3_Silent_p.S257S|TNFRSF25_ENST00000348333.3_Silent_p.S212S|TNFRSF25_ENST00000351959.5_Silent_p.S220S|TNFRSF25_ENST00000351748.3_Silent_p.S74S	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	257					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTGTGGGCGCTGTCCAAGG	0.632													4	145					0	0	0	0	A	6522208	G	A	6522208	2	1	445	1	0	0	0	0	0	0	0	1	16390	1078	38	1		1	TNFRSF25	1	6522208	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	2809575	6522208	242728413	4	87416											
SPEN	23013	broad.mit.edu	37	chr1	16255380	16255380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccttgcgtggttttgactcGagtgaaagagaaagagggaa	12	9	15	5	2	0	4	0	2	0	2	1	7	0	5	1	2	1	1	1	2	3	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:16255380G>C	ENST00000375759.3	+	11	2849	c.2645G>C	c.(2644-2646)cGa>cCa	p.R882P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	882					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTTTGACTCGAGTGAAAGAG	0.463													4	175					0	0	0	0	C	16255380	G	C	16255380	3	2	445	1	0	0	0	0	1	0	0	0	15128	1058	37	3	2687	3	SPEN	1	16255380	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	9733172	16255380	232995241	5	87417											
SPEN	23013	broad.mit.edu	37	chr1	16258490	16258490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgaccatgaaaaccgctctCctgtcaaagagcccgttgag	11	8	10	12	2	2	4	1	3	1	1	3	4	2	4	4	0	2	2	4	0	3	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:16258490C>T	ENST00000375759.3	+	11	5959	c.5755C>T	c.(5755-5757)Cct>Tct	p.P1919S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1919					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAACCGCTCTCCTGTCAAAGA	0.562													4	115					0	0	0	0	T	16258490	C	T	16258490	3	4	445	1	0	0	0	0	1	0	0	0	15128	855	30	2	5797	2	SPEN	1	16258490	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	3110	16258490	232992131	6	87418											
HNRNPR	10236	broad.mit.edu	37	chr1	23645146	23645146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgattcttctttttgtcatCgggttgatgatagagaataa	10	16	9	6	2	3	3	1	2	2	1	4	5	3	3	1	1	0	1	1	1	3	7			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:23645146C>T	ENST00000478691.1	-	7	824	c.553G>A	c.(553-555)Gat>Aat	p.D185N	HNRNPR_ENST00000606561.1_Missense_Mutation_p.D144N|HNRNPR_ENST00000374616.3_Missense_Mutation_p.D286N|HNRNPR_ENST00000427764.2_Missense_Mutation_p.D245N|HNRNPR_ENST00000426846.2_Missense_Mutation_p.D123N|HNRNPR_ENST00000302271.6_Missense_Mutation_p.D283N|HNRNPR_ENST00000374612.1_Missense_Mutation_p.D283N	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	283	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTTTGTCATCGGGTTGATGA	0.453													15	47					0	0	0	0	T	23645146	C	T	23645146	3	4	445	1	0	0	0	0	1	0	0	0	7322	884	31	1	1070	1	HNRNPR	1	23645146	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	7386656	23645146	225605475	7	87419											
GPATCH3	63906	broad.mit.edu	37	chr1	27224089	27224089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcaggggagtccccacattCcctctgggcatcagcactgg	7	7	12	15	1	2	0	1	0	1	0	4	1	4	1	3	4	1	3	3	4	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:27224089C>T	ENST00000361720.5	-	2	602	c.579G>A	c.(577-579)ggG>ggA	p.G193G		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	193						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCCACATTCCCTCTGGGCA	0.602													12	50					0	0	0	0	T	27224089	C	T	27224089	2	4	445	1	0	0	0	0	0	0	0	1	6641	842	30	2		2	GPATCH3	1	27224089	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	3578943	27224089	222026532	8	87420											
WASF2	10163	broad.mit.edu	37	chr1	27744825	27744825	+	Frame_Shift_Del	DEL	C	C	-																															atcacaggtattgtatgtttCtaagacaggcactgggagag																								rs150650907	byFrequency	TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:27744825delC	ENST00000430629.2	-	4	579	c.364delG	c.(364-366)aafs	p.E122fs	WASF2_ENST00000536657.1_Frame_Shift_Del_p.E122fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	122					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTGTATGTTTCTAAGACAGGC	0.443													12	69	---	---	---	---					-	27744825	C	-	27744825	7	5	445	1	0	1	0	1	0	0	0	0	17349	922	32	0	1156	0	WASF2	1	27744825	Frame_Shift_Del	DEL	C	TCGA-KU-A6H7-01A-11D-A31L-08	520736	27744825	221505796	9	87421											
KCNQ4	9132	broad.mit.edu	37	chr1	41285102	41285102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgagaaggacgccaaCtccgacttctcctcctacgc	8	8	9	16	3	1	1	0	1	1	1	4	4	3	2	4	2	2	1	4	2	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:41285102C>G	ENST00000347132.5	+	5	874	c.792C>G	c.(790-792)aaC>aaG	p.N264K	KCNQ4_ENST00000509682.2_Missense_Mutation_p.N264K|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	264					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGACGCCAACTCCGACTTCT	0.637													26	97					0	0	0	0	G	41285102	C	G	41285102	3	3	445	1	0	0	0	0	1	0	0	0	8138	564	20	4	810	4	KCNQ4	1	41285102	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	13540277	41285102	207965519	10	87422											
NRD1	4898	broad.mit.edu	37	chr1	52260496	52260496	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaattcaaatacttactCaacaacatatttcaggaaat	20	11	3	7	0	3	1	3	0	0	1	3	2	3	2	0	1	4	0	0	1	9	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:52260496C>T	ENST00000354831.7	-	25	3028	c.2840_splice	c.e25+1	p.D947_splice	NRD1_ENST00000544028.1_3'UTR|NRD1_ENST00000539524.1_Splice_Site_p.D815_splice|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000352171.7_Splice_Site_p.D879_splice|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	878					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AATACTTACTCAACAACATAT	0.358													13	58					0	0	0	0	T	52260496	C	T	52260496	5	4	445	1	0	0	0	0	0	0	1	0	10716	840	29	2	856	2	NRD1	1	52260496	Splice_Site	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	10975394	52260496	196990125	11	87423											
SERBP1	26135	broad.mit.edu	37	chr1	67885715	67885715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcactctttgatttatgaaGaacaaatcccttcttccact	11	16	3	11	0	3	3	1	2	2	1	5	3	5	3	2	0	1	0	2	0	4	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:67885715G>C	ENST00000370994.4	-	6	1024	c.910C>G	c.(910-912)Ctt>Gtt	p.L304V	SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000370995.2_Missense_Mutation_p.L325V|SERBP1_ENST00000361219.6_Missense_Mutation_p.L310V|SERBP1_ENST00000370990.5_Missense_Mutation_p.L319V	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	325					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GATTTATGAAGAACAAATCCC	0.323													8	49					0	0	0	0	C	67885715	G	C	67885715	3	2	445	1	0	0	0	0	1	0	0	0	14162	942	33	2	265	2	SERBP1	1	67885715	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	15625219	67885715	181364906	12	87424											
LRRC8D	55144	broad.mit.edu	37	chr1	90399323	90399323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagaataacaggtgcccaGactctaccaaagcatgtttc	14	8	8	11	0	1	2	0	0	1	2	2	3	1	2	2	1	4	2	2	1	4	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:90399323G>C	ENST00000337338.5	+	3	1103	c.696G>C	c.(694-696)caG>caC	p.Q232H	LRRC8D_ENST00000394593.3_Missense_Mutation_p.Q232H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	232						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAGGTGCCCAGACTCTACCAA	0.453													9	47					0	0	0	0	C	90399323	G	C	90399323	3	2	445	1	0	0	0	0	1	0	0	0	9088	933	33	2	698	2	LRRC8D	1	90399323	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	22513608	90399323	158851298	13	87425											
ABCA4	24	broad.mit.edu	37	chr1	94544910	94544910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgtgctgcaggtgaatCaggagtgtacaggatttttc	8	13	12	8	1	1	1	1	1	0	0	3	3	1	3	1	3	3	3	1	3	2	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:94544910C>A	ENST00000370225.3	-	9	1293	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y	ABCA4_ENST00000535735.1_Missense_Mutation_p.D403Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	403					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCAGGTGAATCAGGAGTGTAC	0.493													25	63					7.07758e-08	7.36712e-08	1	0	A	94544910	C	A	94544910	3	1	445	1	0	0	0	0	1	0	0	0	34	826	29	2	5782	2	ABCA4	1	94544910	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	4145587	94544910	154705711	14	87426											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879256	144879256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaggtgccaacagctctCagcttccagggtctttccag	8	10	9	14	0	2	0	1	0	2	0	6	0	5	0	4	2	4	2	4	2	2	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:144879256C>T	ENST00000369359.4	-	30	4640	c.4602G>A	c.(4600-4602)ctG>ctA	p.L1534L	PDE4DIP_ENST00000530740.1_Silent_p.L1534L|PDE4DIP_ENST00000369354.3_Silent_p.L1398L|PDE4DIP_ENST00000369356.4_Silent_p.L1398L|PDE4DIP_ENST00000313382.9_Silent_p.L1354L|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1398					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAACAGCTCTCAGCTTCCAGG	0.537			T	PDGFRB	MPD								10	100					0	0	0	0	T	144879256	C	T	144879256	2	4	445	1	0	0	0	0	0	0	0	1	11714	813	29	2		2	PDE4DIP	1	144879256	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	50334346	144879256	104371365	15	87427											
PRUNE	58497	broad.mit.edu	37	chr1	150997133	150997133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tagcagaggtgctagaccatCgacccatcgagccgaaacac	13	5	10	13	3	0	2	0	0	0	2	2	5	0	2	3	1	4	2	3	1	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:150997133C>G	ENST00000271620.3	+	4	538	c.382C>G	c.(382-384)Cga>Gga	p.R128G	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000271619.8_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	128						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			GCTAGACCATCGACCCATCGA	0.577											OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	64					0	0	0	0	G	150997133	C	G	150997133	3	3	445	1	0	0	0	0	1	0	0	0	12719	876	31	3	396	3	PRUNE	1	150997133	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	6117877	150997133	98253488	16	87428											
ILF2	3608	broad.mit.edu	37	chr1	153634912	153634912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcttcctctccttgaGgtggttcttctgtattctcc	2	21	6	12	0	6	1	0	1	6	0	9	1	7	1	3	2	0	2	3	2	1	8			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:153634912G>C	ENST00000361891.4	-	14	1258	c.1133C>G	c.(1132-1134)cCt>cGt	p.P378R	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	378					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctctccttgaggtggttcttc	0.488													23	32					0	0	0	0	C	153634912	G	C	153634912	3	2	445	1	0	0	0	0	1	0	0	0	7764	1000	35	4	43	4	ILF2	1	153634912	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	2637779	153634912	95615709	17	87429											
ATP1A4	480	broad.mit.edu	37	chr1	160143991	160143991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagaaccaccctgagatCgtgtttgctcggacctcccc	7	9	8	17	2	0	2	0	1	0	2	4	4	2	3	6	1	2	2	6	1	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:160143991C>T	ENST00000368081.4	+	14	2553	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	694					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			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)			accctgagatcgtgtttgctc	0.527													24	39					0	0	0	0	T	160143991	C	T	160143991	2	4	445	1	0	0	0	0	0	0	0	1	1135	874	31	1		1	ATP1A4	1	160143991	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	6509079	160143991	89106630	18	87430											
FCGR2A	2212	broad.mit.edu	37	chr1	161480678	161480678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgtggctgtggtcattgCgactgctgtagcagccattg	6	13	13	9	1	1	0	1	0	0	0	1	1	1	0	1	2	4	4	1	2	1	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:161480678C>T	ENST00000271450.6	+	5	712	c.674C>T	c.(673-675)gCg>gTg	p.A225V	FCGR2A_ENST00000367972.4_Missense_Mutation_p.A224V|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	225						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGGTCATTGCGACTGCTGTA	0.502													67	167					0	0	0	0	T	161480678	C	T	161480678	3	4	445	1	0	0	0	0	1	0	0	0	5826	768	27	1	692	1	FCGR2A	1	161480678	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	1336687	161480678	87769943	19	87431											
LAMC1	3915	broad.mit.edu	37	chr1	183083794	183083794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccactgtgagaggtgccgaGagaacttcttccgccttggc	7	9	12	13	2	1	2	0	1	1	2	2	5	2	2	4	2	2	0	4	2	1	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:183083794G>C	ENST00000258341.4	+	5	1407	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	384	Laminin EGF-like 2.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGTGCCGAGAGAACTTCTT	0.512													6	116					0	0	0	0	C	183083794	G	C	183083794	3	2	445	1	0	0	0	0	1	0	0	0	8667	943	33	2	1168	2	LAMC1	1	183083794	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	21603116	183083794	66166827	20	87432											
PRG4	10216	broad.mit.edu	37	chr1	186276382	186276382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcctgcacccaccaccAccaaggagccttcacccacc	11	3	7	20	0	1	0	1	0	0	0	1	2	1	2	8	2	3	1	8	2	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:186276382A>C	ENST00000445192.2	+	7	1576	c.1531A>C	c.(1531-1533)Acc>Ccc	p.T511P	PRG4_ENST00000367486.3_Missense_Mutation_p.T468P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T470P|PRG4_ENST00000367485.4_Missense_Mutation_p.T418P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	511	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.637													12	179					0	0	0	0	C	186276382	A	C	186276382	3	2	445	1	0	0	0	0	1	0	0	0	12561	159	6	5	1553	5	PRG4	1	186276382	Missense_Mutation	SNP	A	TCGA-KU-A6H7-01A-11D-A31L-08	3192588	186276382	62974239	21	87433											
CRB1	23418	broad.mit.edu	37	chr1	197398707	197398707	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattcagcccgtgtcctcaCggagcccagtgccagccggt	6	7	13	15	3	2	0	2	0	0	0	3	2	3	2	5	3	4	0	5	3	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:197398707C>T	ENST00000367397.1	+	4	1806	c.948C>T	c.(946-948)caC>caT	p.H316H	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.H911H|CRB1_ENST00000544212.1_Silent_p.H416H|CRB1_ENST00000367400.3_Silent_p.H935H|CRB1_ENST00000367399.2_Silent_p.H823H			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	935	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.H935Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGTGTCCTCACGGAGCCCAGT	0.532													25	38					0	0	0	0	T	197398707	C	T	197398707	2	4	445	1	0	0	0	0	0	0	0	1	3878	535	19	1		1	CRB1	1	197398707	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	11122325	197398707	51851914	22	87434											
PLXNA2	5362	broad.mit.edu	37	chr1	208224401	208224401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactcggatccttggctcctGaatgacatccaggttgaagc	9	10	11	11	1	0	3	0	3	0	0	4	5	3	4	3	3	1	2	3	3	2	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:208224401G>C	ENST00000367033.3	-	17	3965	c.3208C>G	c.(3208-3210)Cag>Gag	p.Q1070E		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1070	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTTGGCTCCTGAATGACATCC	0.493													14	71					0	0	0	0	C	208224401	G	C	208224401	3	2	445	1	0	0	0	0	1	0	0	0	12192	1299	45	2	2540	2	PLXNA2	1	208224401	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	10825694	208224401	41026220	23	87435											
SYT14	255928	broad.mit.edu	37	chr1	210267850	210267850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taacaagtgcccaagtgaagGaagcacaggtcatgaaatag	17	6	11	7	0	1	2	1	2	0	0	1	3	1	3	1	2	3	1	1	2	7	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:210267850G>A	ENST00000537238.1	+	6	903	c.512G>A	c.(511-513)gGa>gAa	p.G171E	SYT14_ENST00000534859.1_Missense_Mutation_p.G209E|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.G171E|SYT14_ENST00000422431.1_Missense_Mutation_p.G254E|SYT14_ENST00000399639.2_Missense_Mutation_p.G209E|SYT14_ENST00000472886.1_Missense_Mutation_p.G209E|SYT14_ENST00000367019.1_Missense_Mutation_p.G209E	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	209						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCAAGTGAAGGAAGCACAGGT	0.418													4	61					0	0	0	0	A	210267850	G	A	210267850	3	1	445	1	0	0	0	0	1	0	0	0	15561	1174	41	2	783	2	SYT14	1	210267850	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	2043449	210267850	38982771	24	87436											
MIA3	375056	broad.mit.edu	37	chr1	222802495	222802495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgatttgcccagagaactgGaagacgaggttcccattctg	10	11	11	9	1	1	3	0	1	1	2	2	6	2	4	2	2	2	1	2	2	2	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:222802495G>A	ENST00000344922.5	+	4	1958	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E645K|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	645					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAGAGAACTGGAAGACGAGGT	0.448													7	116					0	0	0	0	A	222802495	G	A	222802495	3	1	445	1	0	0	0	0	1	0	0	0	9634	1175	41	2	1947	2	MIA3	1	222802495	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	12534645	222802495	26448126	25	87437											
EGLN1	54583	broad.mit.edu	37	chr1	231557041	231557041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttgttcatgcacggcacGatgtactcgagcgccagctt	7	11	11	12	4	1	0	1	0	0	0	2	2	1	0	1	1	5	6	1	1	1	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:231557041G>A	ENST00000366641.3	-	1	3749	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	198					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TGCACGGCACGATGTACTCGA	0.687													12	21					0	0	0	0	A	231557041	G	A	231557041	2	1	445	1	0	0	0	0	0	0	0	1	5004	1048	37	1		1	EGLN1	1	231557041	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	8754546	231557041	17693580	26	87438											
OR2AK2	391191	broad.mit.edu	37	chr1	248128891	248128891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctctccatcgttgacctCatgtacatctccaccacagt	9	11	5	16	1	3	1	1	1	2	0	6	1	3	1	4	0	2	3	4	0	1	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:248128891C>T	ENST00000366480.3	+	1	357	c.258C>T	c.(256-258)ctC>ctT	p.L86L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCGTTGACCTCATGTACATCT	0.468													6	108					0	0	0	0	T	248128891	C	T	248128891	2	4	445	1	0	0	0	0	0	0	0	1	11057	813	29	2		2	OR2AK2	1	248128891	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	16571850	248128891	1121730	27	87439											
TPO	7173	broad.mit.edu	37	chr2	1488598	1488598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggctgcaccaggctttCttcagcccatggacattact	7	12	9	13	0	2	0	1	0	1	0	2	1	2	1	2	3	3	3	2	3	1	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:1488598C>T	ENST00000345913.4	+	9	1660	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	TPO_ENST00000337415.3_Silent_p.F523F|TPO_ENST00000349624.3_Silent_p.F350F|TPO_ENST00000382201.3_Silent_p.F523F|TPO_ENST00000329066.4_Silent_p.F523F|TPO_ENST00000346956.3_Silent_p.F523F|TPO_ENST00000382198.1_Silent_p.F350F|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	523					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCAGGCTTTCTTCAGCCCAT	0.562													12	81					0	0	0	0	T	1488598	C	T	1488598	2	4	445	1	0	0	0	0	0	0	0	1	16505	912	32	2		2	TPO	2	1488598	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		1488598	241710775	28	87440											
GCKR	2646	broad.mit.edu	37	chr2	27730604	27730604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttccatccttccctctctCacggaaatcgatactgtggt	8	13	6	14	2	2	0	1	0	1	0	7	2	5	1	3	2	1	0	3	2	2	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:27730604C>T	ENST00000264717.2	+	14	1263	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	GCKR_ENST00000424318.2_Silent_p.L210L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	400	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCCCTCTCTCACGGAAATCG	0.547													10	50					0	0	0	0	T	27730604	C	T	27730604	2	4	445	1	0	0	0	0	0	0	0	1	6343	813	29	2		2	GCKR	2	27730604	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	26242006	27730604	215468769	29	87441											
GCKR	2646	broad.mit.edu	37	chr2	27730628	27730628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatcgatactgtggtcttCattttcaccctggatggtga	9	14	10	8	1	3	1	2	1	1	0	4	4	3	2	1	3	1	0	1	3	2	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:27730628C>G	ENST00000264717.2	+	14	1287	c.1224C>G	c.(1222-1224)ttC>ttG	p.F408L	GCKR_ENST00000424318.2_Missense_Mutation_p.F218L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	408	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTGTGGTCTTCATTTTCACCC	0.537													8	46					0	0	0	0	G	27730628	C	G	27730628	3	3	445	1	0	0	0	0	1	0	0	0	6343	825	29	2	1278	2	GCKR	2	27730628	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	24	27730628	215468745	30	87442											
SLC8A1	6546	broad.mit.edu	37	chr2	40656466	40656466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcgcctagcttcttcatCatcttggtccctctcatcca	5	16	4	16	1	6	0	3	0	4	0	10	0	8	0	3	1	1	1	3	1	1	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:40656466C>G	ENST00000406785.1	-	2	1144	c.955G>C	c.(955-957)Gat>Cat	p.D319H	SLC8A1_ENST00000542024.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D319H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D319H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D319H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D319H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	319					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	GCTTCTTCATCATCTTGGTCC	0.398													7	130					0	0	0	0	G	40656466	C	G	40656466	3	3	445	1	0	0	0	0	1	0	0	0	14794	826	29	2	2114	2	SLC8A1	2	40656466	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	12925838	40656466	202542907	31	87443											
RTKN	6242	broad.mit.edu	37	chr2	74653396	74653396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgactggagccaagtgcGaggttggcctttgctgcaga	7	10	16	8	1	0	2	0	1	0	1	0	4	0	3	2	4	4	3	2	4	1	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:74653396G>A	ENST00000305557.5	-	13	2212	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	RTKN_ENST00000233330.6_Missense_Mutation_p.R506C|RTKN_ENST00000272430.5_Missense_Mutation_p.R556C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	556	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGCCAAGTGCGAGGTTGGCCT	0.622													42	145					0	0	0	0	A	74653396	G	A	74653396	3	1	445	1	0	0	0	0	1	0	0	0	13807	1058	37	1	29	1	RTKN	2	74653396	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	33996930	74653396	168545977	32	87444											
IMMT	10989	broad.mit.edu	37	chr2	86371871	86371871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcagaacagttggctttGatggcctcaactgcactacc	10	12	8	11	0	2	2	2	1	0	1	2	2	2	2	2	2	4	3	2	2	4	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:86371871G>C	ENST00000410111.3	-	15	2184	c.1797C>G	c.(1795-1797)atC>atG	p.I599M	IMMT_ENST00000254636.5_Missense_Mutation_p.I500M|IMMT_ENST00000409051.2_Missense_Mutation_p.I552M|IMMT_ENST00000449247.2_Missense_Mutation_p.I588M|IMMT_ENST00000442664.2_Missense_Mutation_p.I598M	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	599						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTTGGCTTTGATGGCCTCAA	0.507													5	77					0	0	0	0	C	86371871	G	C	86371871	3	2	445	1	0	0	0	0	1	0	0	0	7771	1280	45	2	483	2	IMMT	2	86371871	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	11718475	86371871	156827502	33	87445											
CKAP2L	150468	broad.mit.edu	37	chr2	113514069	113514069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttcttgactactggtttCtttgatgactgaactttact	8	19	7	7	0	2	4	0	4	2	0	2	4	2	4	0	1	3	2	0	1	3	7			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:113514069C>G	ENST00000541405.1	-	4	907	c.384G>C	c.(382-384)aaG>aaC	p.K128N	CKAP2L_ENST00000302450.6_Missense_Mutation_p.K293N			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	293						centrosome		p.K293N(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTACTGGTTTCTTTGATGACT	0.398													17	42					0	0	0	0	G	113514069	C	G	113514069	3	3	445	1	0	0	0	0	1	0	0	0	3473	912	32	2	1382	2	CKAP2L	2	113514069	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	27142198	113514069	129685304	34	87446											
KCNH7	90134	broad.mit.edu	37	chr2	163374320	163374320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaccgaagatgctctcCgtatactacataagctttcc	11	11	7	12	2	1	1	0	0	1	1	3	3	2	2	3	1	4	3	3	1	5	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:163374320C>T	ENST00000332142.5	-	4	911	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R271Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	271					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGATGCTCTCCGTATACTACA	0.468													21	31					0	0	0	0	T	163374320	C	T	163374320	3	4	445	1	0	0	0	0	1	0	0	0	8090	652	23	1	2896	1	KCNH7	2	163374320	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	49860251	163374320	79825053	35	87447											
MTERFD2	130916	broad.mit.edu	37	chr2	242038854	242038854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtaactggagcgcttcctCatttgcataataggcagttt	10	13	10	8	1	1	0	1	0	0	0	2	1	2	1	1	3	3	5	1	3	3	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:242038854C>G	ENST00000391980.2	-	2	535	c.477G>C	c.(475-477)atG>atC	p.M159I	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.M159I|MTERFD2_ENST00000495694.1_Missense_Mutation_p.M159I	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	159										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		AGCGCTTCCTCATTTGCATAA	0.458													19	77					0	0	0	0	G	242038854	C	G	242038854	3	3	445	1	0	0	0	0	1	0	0	0	9990	826	29	2	680	2	MTERFD2	2	242038854	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	78664534	242038854	1160519	36	87448			1	135		3	3	43	C		3.346063e-08
MTERFD2	130916	broad.mit.edu	37	chr2	242038875	242038875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgcataataggcagtttCaataactggggacttttctt	11	16	8	6	0	2	0	1	0	1	0	2	1	2	1	0	3	2	3	0	3	4	8			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:242038875C>T	ENST00000391980.2	-	2	514	c.456G>A	c.(454-456)ttG>ttA	p.L152L	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Silent_p.L152L|MTERFD2_ENST00000495694.1_Silent_p.L152L	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	152										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TAGGCAGTTTCAATAACTGGG	0.463													22	78					0	0	0	0	T	242038875	C	T	242038875	2	4	445	1	0	0	0	0	0	0	0	1	9990	825	29	2		2	MTERFD2	2	242038875	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	21	242038875	1160498	37	87449			1	135		3	3	43	C		3.346063e-08
MTERFD2	130916	broad.mit.edu	37	chr2	242038896	242038896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataactggggacttttcttCaagaccacacacacaggctc	13	9	7	12	0	2	1	1	0	1	1	3	2	2	2	1	3	1	1	1	3	3	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:242038896C>G	ENST00000391980.2	-	2	493	c.435G>C	c.(433-435)ttG>ttC	p.L145F	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.L145F|MTERFD2_ENST00000495694.1_Missense_Mutation_p.L145F	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	145										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GACTTTTCTTCAAGACCACAC	0.463													19	82					0	0	0	0	G	242038896	C	G	242038896	3	3	445	1	0	0	0	0	1	0	0	0	9990	825	29	2	722	2	MTERFD2	2	242038896	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	21	242038896	1160477	38	87450			1	135		3	3	43	C		3.346063e-08
DPH3	285381	broad.mit.edu	37	chr3	16305733	16305733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttccccattctccaaatCttcctacaacgaaatcaaat	13	12	2	14	1	4	0	1	0	3	0	7	1	6	0	4	0	2	0	4	0	5	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:16305733C>T	ENST00000488423.1	-	2	207	c.112G>A	c.(112-114)Gat>Aat	p.D38N	DPH3_ENST00000383775.4_Intron|DPH3_ENST00000285082.4_5'UTR	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	38					negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding			large_intestine(2)	2						TTCTCCAAATCTTCCTACAAC	0.448													4	17					0	0	0	0	T	16305733	C	T	16305733	3	4	445	1	0	0	0	0	1	0	0	0	4757	913	32	2	144	2	DPH3	3	16305733	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		16305733	181716697	39	87451											
UBE2E2	7325	broad.mit.edu	37	chr3	23574161	23574161	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctaaagttctcctctcCatctgctcacttcttacaga	9	16	3	13	0	6	1	1	0	5	1	8	1	6	1	2	0	2	2	2	0	3	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:23574161C>T	ENST00000396703.1	+	5	657	c.477C>T	c.(475-477)tcC>tcT	p.S159S	UBE2E2_ENST00000425792.1_Silent_p.S159S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	159					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						TTCTCCTCTCCATCTGCTCAC	0.388													17	37					0	0	0	0	T	23574161	C	T	23574161	2	4	445	1	0	0	0	0	0	0	0	1	16949	581	21	4		4	UBE2E2	3	23574161	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	7268428	23574161	174448269	40	87452											
RBM5	10181	broad.mit.edu	37	chr3	50142523	50142523	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctagactctgaacaggaAgtgcctcctggaaccacaga	12	8	9	12	0	2	3	0	1	2	2	3	5	3	5	3	2	3	0	3	2	4	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:50142523A>G	ENST00000347869.3	+	9	817	c.642A>G	c.(640-642)gaA>gaG	p.E214E		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	214					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGAACAGGAAGTGCCTCCTG	0.368													3	19					0	0	0	0	G	50142523	A	G	50142523	2	3	445	1	0	0	0	0	0	0	0	1	13225	69	3	5		5	RBM5	3	50142523	Silent	SNP	A	TCGA-KU-A6H7-01A-11D-A31L-08	26568362	50142523	147879907	41	87453											
MAGI1	9223	broad.mit.edu	37	chr3	65376848	65376848	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatgctcctggactgggcCcagattttaaaaggatctgg	10	11	11	9	0	1	1	0	0	1	1	2	3	2	3	2	4	2	1	2	4	3	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:65376848C>T	ENST00000330909.8	-	14	2384	c.2385G>A	c.(2383-2385)tgG>tgA	p.W795*	MAGI1_ENST00000402939.2_Nonsense_Mutation_p.W795*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.W795*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.W795*	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	795					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGACTGGGCCCAGATTTTAA	0.537													4	65					0	0	0	0	T	65376848	C	T	65376848	4	4	445	1	0	0	0	0	0	1	0	0	9259	624	22	4	2277	4	MAGI1	3	65376848	Nonsense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	15234325	65376848	132645582	42	87454											
PHLDB2	90102	broad.mit.edu	37	chr3	111632476	111632476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actactcagtgacctcacccGgactcctccaccaccatcct	9	8	4	20	1	2	1	2	1	0	0	5	2	5	2	7	1	1	0	7	1	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:111632476G>A	ENST00000431670.2	+	3	2057	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	PHLDB2_ENST00000495180.1_Missense_Mutation_p.R135Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R576Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R549Q|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R549Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	549						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTCACCCGGACTCCTCCA	0.522													6	208					0	0	0	0	A	111632476	G	A	111632476	3	1	445	1	0	0	0	0	1	0	0	0	11924	1116	39	1	1737	1	PHLDB2	3	111632476	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	46255628	111632476	86389954	43	87455											
SIDT1	54847	broad.mit.edu	37	chr3	113345036	113345036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatctggcacttcctctctGctactgctctgtttttctca	5	17	5	14	0	4	0	1	0	4	0	7	0	5	0	1	1	3	4	1	1	1	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:113345036G>A	ENST00000264852.4	+	24	3121	c.2395G>A	c.(2395-2397)Gct>Act	p.A799T	SIDT1_ENST00000393830.3_Missense_Mutation_p.A804T|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	799						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTTCCTCTCTGCTACTGCTCT	0.463													7	105					0	0	0	0	A	113345036	G	A	113345036	3	1	445	1	0	0	0	0	1	0	0	0	14390	1319	46	4	2489	4	SIDT1	3	113345036	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	1712560	113345036	84677394	44	87456											
ISY1	57461	broad.mit.edu	37	chr3	128853674	128853674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaaatgcccagagacctaCgtttcttttcatattcctgt	11	15	5	10	1	2	1	1	0	1	1	3	2	3	1	3	0	2	1	3	0	4	7			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:128853674C>A	ENST00000393292.3	-	8	603	c.542G>T	c.(541-543)cGt>cTt	p.R181L	ISY1-RAB43_ENST00000418265.1_Splice_Site|ISY1_ENST00000273541.8_Splice_Site|ISY1_ENST00000393295.3_Splice_Site|ISY1_ENST00000471497.1_Intron					ISY1 splicing factor homolog (S. cerevisiae)											endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CAGAGACCTACGTTTCTTTTC	0.388													32	67					1.62565e-12	1.72349e-12	1	0	A	128853674	C	A	128853674	3	1	445	1	0	0	0	0	1	0	0	0	7919	550	19	3	331	3	ISY1	3	128853674	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	15508638	128853674	69168756	45	87457											
TMCC1	23023	broad.mit.edu	37	chr3	129389575	129389575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgagtgaggcaatctctCtgggctttgagactacagcg	10	10	13	8	1	2	3	0	3	2	1	3	5	2	3	0	2	2	2	0	2	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:129389575C>T	ENST00000393238.3	-	4	1449	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	TMCC1_ENST00000432054.2_Missense_Mutation_p.R46K|TMCC1_ENST00000329333.5_Missense_Mutation_p.R191K|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256K	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGCAATCTCTCTGGGCTTTGA	0.527													4	61					0	0	0	0	T	129389575	C	T	129389575	3	4	445	1	0	0	0	0	1	0	0	0	16086	913	32	2	864	2	TMCC1	3	129389575	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	535901	129389575	68632855	46	87458											
BFSP2	8419	broad.mit.edu	37	chr3	133193815	133193815	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgtttcctttcagctGatggagaaacttcctctttt	7	18	7	9	0	2	2	1	1	1	1	4	3	4	2	2	1	2	2	2	1	2	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:133193815G>T	ENST00000302334.2	+	7	1336	c.1247G>T	c.(1246-1248)tGa>tTa	p.*416L		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	0					response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCTTTCAGCTGATGGAGAAAC	0.458													13	108					0.0135373	0.0135967	1	0	T	133193815	G	T	133193815	4	4	445	1	0	0	0	0	0	0	0	0	1421	1285	45	2	1273	2	BFSP2	3	133193815	Nonstop_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	3804240	133193815	64828615	47	87459											
GRK7	131890	broad.mit.edu	37	chr3	141497652	141497652	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttctacgacaagtttCtgcagtggaaactcttcgag	9	11	10	11	3	3	0	0	0	3	0	4	3	3	1	1	1	3	2	1	1	3	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:141497652C>A	ENST00000264952.2	+	1	663	c.526C>A	c.(526-528)Ctg>Atg	p.L176M		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	176	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGACAAGTTTCTGCAGTGGAA	0.532													14	85					6.31663e-08	6.60506e-08	1	0	A	141497652	C	A	141497652	3	1	445	1	0	0	0	0	1	0	0	0	6844	912	32	2	528	2	GRK7	3	141497652	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	8303837	141497652	56524778	48	87460											
ATR	545	broad.mit.edu	37	chr3	142280234	142280234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccatactttccattttCaaagctgcataaagtgggcc	11	14	6	10	0	1	0	1	0	0	0	3	0	3	0	3	1	3	2	3	1	4	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:142280234C>G	ENST00000350721.4	-	5	1321	c.1200G>C	c.(1198-1200)ttG>ttC	p.L400F	ATR_ENST00000383101.3_Missense_Mutation_p.L400F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	400					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			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						TTTCCATTTTCAAAGCTGCAT	0.348								Other conserved DNA damage response genes					3	51					0	0	0	0	G	142280234	C	G	142280234	3	3	445	1	0	0	0	0	1	0	0	0	1208	825	29	2	6906	2	ATR	3	142280234	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	782582	142280234	55742196	49	87461											
C3orf33	285315	broad.mit.edu	37	chr3	155485381	155485381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taattgggaaggttttagctCtttttgtaaccatgccttcc	8	17	8	8	0	1	0	0	0	1	0	2	1	2	1	3	2	3	3	3	2	4	8			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:155485381C>G	ENST00000534941.1	-	5	540	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	C3orf33_ENST00000340171.2_Missense_Mutation_p.E134Q	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	chromosome 3 open reading frame 33	91							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGTTTTAGCTCTTTTTGTAAC	0.418													5	20					0	0	0	0	G	155485381	C	G	155485381	3	3	445	1	0	0	0	0	1	0	0	0	2243	922	32	2	492	2	C3orf33	3	155485381	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	13205147	155485381	42537049	50	87462											
KNG1	3827	broad.mit.edu	37	chr3	186442879	186442879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctgctctttgttaagccGagggccctgtggtgacagcc	5	12	13	11	1	2	1	0	1	2	0	2	2	2	1	3	2	3	2	3	2	1	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:186442879G>A	ENST00000265023.4	+	4	606	c.394G>A	c.(394-396)Gag>Aag	p.E132K	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.E132K|KNG1_ENST00000287611.2_Missense_Mutation_p.E132K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	132	Cystatin 1.|O-glycosylated at one site only.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.E132K(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTGTTAAGCCGAGGGCCCTGT	0.532													13	29					0	0	0	0	A	186442879	G	A	186442879	3	1	445	1	0	0	0	0	1	0	0	0	8479	1059	37	1	408	1	KNG1	3	186442879	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	30957498	186442879	11579551	51	87463											
FAM193A	8603	broad.mit.edu	37	chr4	2696680	2696680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcggttttgcagtgaccctGactgcgaagggcaccgctgc	6	9	14	12	3	0	2	0	2	0	0	0	3	0	2	2	2	4	4	2	2	1	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:2696680G>A	ENST00000324666.5	+	15	2578	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	FAM193A_ENST00000382839.3_Missense_Mutation_p.D743N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D743N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D743N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D765N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	743										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGTGACCCTGACTGCGAAGG	0.582													3	18					0	0	0	0	A	2696680	G	A	2696680	3	1	445	1	0	0	0	0	1	0	0	0	5567	1290	45	2	2277	2	FAM193A	4	2696680	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		2696680	188457596	52	87464											
HNRNPD	3184	broad.mit.edu	37	chr4	83280732	83280732	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacttcaccaaatttggaAaagtagtccttcagatcttt	14	13	5	9	0	3	1	2	0	1	1	4	2	4	2	2	1	1	1	2	1	5	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:83280732A>T	ENST00000313899.7	-	3	628	c.351T>A	c.(349-351)ttT>ttA	p.F117L	HNRNPD_ENST00000543098.1_Missense_Mutation_p.F65L|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.F117L|HNRNPD_ENST00000352301.4_Missense_Mutation_p.F98L	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	117	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CAAATTTGGAAAAGTAGTCCT	0.378													17	60					0	0	0	0	T	83280732	A	T	83280732	3	4	445	1	0	0	0	0	1	0	0	0	7314	11	1	5	740	5	HNRNPD	4	83280732	Missense_Mutation	SNP	A	TCGA-KU-A6H7-01A-11D-A31L-08	80584052	83280732	107873544	53	87465											
AFF1	4299	broad.mit.edu	37	chr4	87967403	87967403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaagagaaagaggcatttCctgaaaagattccccttttt	14	11	7	9	0	0	4	0	1	0	3	2	5	2	4	4	1	0	1	4	1	4	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:87967403C>T	ENST00000307808.6	+	2	523	c.103C>T	c.(103-105)Cct>Tct	p.P35S	AFF1_ENST00000395146.4_Missense_Mutation_p.P42S|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	35						nucleus	sequence-specific DNA binding transcription factor activity			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)		AGAGGCATTTCCTGAAAAGAT	0.418													30	121					0	0	0	0	T	87967403	C	T	87967403	3	4	445	1	0	0	0	0	1	0	0	0	356	855	30	2	151	2	AFF1	4	87967403	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	4686671	87967403	103186873	54	87466											
AFF1	4299	broad.mit.edu	37	chr4	87968606	87968606	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtccggcccatggatggtCaagatcaggcccctagtgaa	10	8	12	11	1	2	2	2	1	0	1	3	3	3	3	4	4	0	0	4	4	3	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:87968606C>T	ENST00000307808.6	+	3	1318	c.898C>T	c.(898-900)Caa>Taa	p.Q300*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.Q307*|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	300						nucleus	sequence-specific DNA binding transcription factor activity			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)		CATGGATGGTCAAGATCAGGC	0.542													29	180					0	0	0	0	T	87968606	C	T	87968606	4	4	445	1	0	0	0	0	0	1	0	0	356	827	29	2	950	2	AFF1	4	87968606	Nonsense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	1203	87968606	103185670	55	87467											
WDR17	116966	broad.mit.edu	37	chr4	177084360	177084360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagttggcagtctgtgtggGcacagtactaggagagtctg	8	10	17	6	0	2	1	0	0	2	1	2	3	2	2	0	4	1	4	0	4	2	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:177084360G>C	ENST00000393643.2	+	22	3158	c.2906G>C	c.(2905-2907)gGc>gCc	p.G969A	WDR17_ENST00000508596.1_Missense_Mutation_p.G969A|WDR17_ENST00000507824.2_Missense_Mutation_p.G976A|WDR17_ENST00000280190.4_Missense_Mutation_p.G993A	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	993										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTCTGTGTGGGCACAGTACTA	0.433													15	45					0	0	0	0	C	177084360	G	C	177084360	3	2	445	1	0	0	0	0	1	0	0	0	17373	1203	42	4	3064	4	WDR17	4	177084360	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	89115754	177084360	14069916	56	87468											
PCDHB4	56131	broad.mit.edu	37	chr5	140501704	140501704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaaacagagagcggcTcctttgtagcccatctggcc	9	8	13	11	1	1	1	0	0	1	1	2	4	2	3	3	4	3	2	3	4	2	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:140501704T>C	ENST00000194152.1	+	1	124	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		42	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGCGGCTCCTTTGTAGC	0.542													4	76					0	0	0	0	C	140501704	T	C	140501704	3	2	445	1	0	0	0	0	1	0	0	0	11615	1551	54	5	126	5	PCDHB4	5	140501704	Missense_Mutation	SNP	T	TCGA-KU-A6H7-01A-11D-A31L-08		140501704	40413556	57	87469											
CSF1R	1436	broad.mit.edu	37	chr5	149439334	149439334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggggtcctggccggggctCaggctgggtcccagcatggc	3	7	18	13	2	1	0	1	0	0	0	4	0	3	0	3	8	1	3	3	8	0	0			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:149439334C>T	ENST00000286301.3	-	15	2352	c.2061G>A	c.(2059-2061)ctG>ctA	p.L687L		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	687	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCCGGGGCTCAGGCTGGGTC	0.577													7	95					0	0	0	0	T	149439334	C	T	149439334	2	4	445	1	0	0	0	0	0	0	0	1	3964	813	29	2		2	CSF1R	5	149439334	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	8937630	149439334	31475926	58	87470											
GRIA1	2890	broad.mit.edu	37	chr5	153077603	153077603	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactctcttctcattaacaGattggttactggaatgaaga	12	13	7	9	0	2	3	1	1	2	2	4	4	2	4	1	2	2	1	1	2	4	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:153077603G>A	ENST00000285900.5	+	9	1477		c.e9-1		GRIA1_ENST00000340592.5_Splice_Site|GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000448073.4_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCATTAACAGATTGGTTACT	0.507													6	31					0	0	0	0	A	153077603	G	A	153077603	5	1	445	1	0	0	0	0	0	0	1	0	6817	956	33	2	1168	2	GRIA1	5	153077603	Splice_Site	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	3638269	153077603	27837657	59	87471											
KIF4B	285643	broad.mit.edu	37	chr5	154393830	154393830	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactttgaatttactctgaaAgtgtcttacttagagattta	12	17	7	5	0	2	3	0	2	2	1	2	5	2	3	0	0	2	0	0	0	6	7			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:154393830A>G	ENST00000435029.4	+	1	571	c.411A>G	c.(409-411)aaA>aaG	p.K137K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	137	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTACTCTGAAAGTGTCTTACT	0.373													25	68					0	0	0	0	G	154393830	A	G	154393830	2	3	445	1	0	0	0	0	0	0	0	1	8355	69	3	5		5	KIF4B	5	154393830	Silent	SNP	A	TCGA-KU-A6H7-01A-11D-A31L-08	1316227	154393830	26521430	60	87472											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766223	171766223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagggattctggggagtgGcatctggcttctcctctggc	6	11	15	9	0	4	1	0	0	4	1	5	3	4	3	1	6	0	2	1	6	1	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:171766223G>A	ENST00000311601.5	-	13	2056	c.1886C>T	c.(1885-1887)gCc>gTc	p.A629V	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	629					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGGGAGTGGCATCTGGCTT	0.567													4	109					0	0	0	0	A	171766223	G	A	171766223	3	1	445	1	0	0	0	0	1	0	0	0	14345	1203	42	4	853	4	SH3PXD2B	5	171766223	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	17372393	171766223	9149037	61	87473											
RIOK1	83732	broad.mit.edu	37	chr6	7402876	7402876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagcaaatggagagagcaGagcaatcaaaatttataaaa	21	6	8	6	0	1	2	1	0	0	2	1	4	1	3	0	1	3	3	0	1	7	3	rs148276498		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:7402876G>C	ENST00000379834.2	+	7	1121	c.614G>C	c.(613-615)aGa>aCa	p.R205T		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	205	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GGAGAGAGCAGAGCAATCAAA	0.318													20	93					0	0	0	0	C	7402876	G	C	7402876	3	2	445	1	0	0	0	0	1	0	0	0	13462	942	33	2	640	2	RIOK1	6	7402876	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		7402876	163712191	62	87474											
RIOK1	83732	broad.mit.edu	37	chr6	7403092	7403092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaccctaggaaaatggtGaaaacttgggcagaaaaaga	19	5	12	5	0	0	3	0	1	0	2	0	5	0	5	1	4	2	1	1	4	8	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:7403092G>A	ENST00000379834.2	+	8	1236	c.729G>A	c.(727-729)gtG>gtA	p.V243V		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	243	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GGAAAATGGTGAAAACTTGGG	0.353													6	40					0	0	0	0	A	7403092	G	A	7403092	2	1	445	1	0	0	0	0	0	0	0	1	13462	1277	45	2		2	RIOK1	6	7403092	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	216	7403092	163711975	63	87475											
DHX16	8449	broad.mit.edu	37	chr6	30632611	30632611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgcgggatctgggtggtCttccctgagcctgtctcgcc	3	12	13	13	2	3	1	0	1	3	0	5	2	4	2	3	3	3	0	3	3	1	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:30632611C>T	ENST00000376442.3	-	7	1479	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	428	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TCTGGGTGGTCTTCCCTGAGC	0.557													7	74					0	0	0	0	T	30632611	C	T	30632611	2	4	445	1	0	0	0	0	0	0	0	1	4539	912	32	2		2	DHX16	6	30632611	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	23229519	30632611	140482456	64	87476											
EFHC1	114327	broad.mit.edu	37	chr6	52355018	52355018	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcaactgaaagatcactCatgcaaagacaacattcgtg	17	7	8	9	1	2	3	2	1	0	2	3	4	2	3	0	0	4	2	0	0	5	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:52355018C>G	ENST00000371068.5	+	10	1824	c.1721C>G	c.(1720-1722)tCa>tGa	p.S574*	EFHC1_ENST00000433625.2_Nonsense_Mutation_p.S483*|EFHC1_ENST00000538167.1_Nonsense_Mutation_p.S555*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	574	EF-hand.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AAAGATCACTCATGCAAAGAC	0.393													6	58					0	0	0	0	G	52355018	C	G	52355018	4	3	445	1	0	0	0	0	0	1	0	0	4982	838	29	2	1769	2	EFHC1	6	52355018	Nonsense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	21722407	52355018	118760049	65	87477											
FAM83B	222584	broad.mit.edu	37	chr6	54805384	54805384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgccctttatactcattctCggcttcgttcctctttagta	6	18	5	12	2	3	0	1	0	2	0	6	0	4	0	2	1	2	3	2	1	4	9			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:54805384C>T	ENST00000306858.7	+	5	1731	c.1615C>T	c.(1615-1617)Cgg>Tgg	p.R539W		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	539								p.R539W(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACTCATTCTCGGCTTCGTTC	0.413													3	51					0	0	0	0	T	54805384	C	T	54805384	3	4	445	1	0	0	0	0	1	0	0	0	5680	875	31	1	1629	1	FAM83B	6	54805384	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	2450366	54805384	116309683	66	87478											
FIG4	9896	broad.mit.edu	37	chr6	110113840	110113840	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacctctcagatggcctctCagaagaagatttctccattt	11	13	6	11	0	3	4	2	0	3	4	6	4	3	4	3	1	1	0	3	1	3	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:110113840C>A	ENST00000230124.3	+	21	2556	c.2432C>A	c.(2431-2433)tCa>tAa	p.S811*	FIG4_ENST00000441478.2_Nonsense_Mutation_p.S534*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	811					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GATGGCCTCTCAGAAGAAGAT	0.318													10	69					9.70103e-10	1.01905e-09	1	0	A	110113840	C	A	110113840	4	1	445	1	0	0	0	0	0	1	0	0	5933	838	29	2	2514	2	FIG4	6	110113840	Nonsense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	55308456	110113840	61001227	67	87479											
CDC40	51362	broad.mit.edu	37	chr6	110514412	110514412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagactggagttcaccttGaccctgccgtcaaagaagtt	10	10	11	10	1	2	3	2	1	0	2	2	5	2	4	3	2	1	2	3	2	2	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:110514412G>T	ENST00000368932.1	+	3	318	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	CDC40_ENST00000307731.1_Missense_Mutation_p.D73Y|CDC40_ENST00000368930.1_Missense_Mutation_p.D73Y|CDC40_ENST00000368933.1_Missense_Mutation_p.D73Y			O60508	PRP17_HUMAN	cell division cycle 40	73					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGTTCACCTTGACCCTGCCGT	0.338													11	52					2.27111e-07	2.34272e-07	1	0	T	110514412	G	T	110514412	3	4	445	1	0	0	0	0	1	0	0	0	3099	1290	45	2	223	2	CDC40	6	110514412	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	400572	110514412	60600655	68	87480											
TIAM2	26230	broad.mit.edu	37	chr6	155532355	155532355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatttcagcaacgtccctGatatcacaacaggtctgaaa	14	9	7	11	1	3	3	2	2	1	1	4	3	4	3	1	1	3	1	1	1	4	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:155532355G>C	ENST00000461783.3	+	17	4355	c.3082G>C	c.(3082-3084)Gat>Cat	p.D1028H	TIAM2_ENST00000456144.1_Missense_Mutation_p.D1028H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D340H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D364H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1028H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D404H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1028H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1052H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1028					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAACGTCCCTGATATCACAAC	0.433													16	28					0	0	0	0	C	155532355	G	C	155532355	3	2	445	1	0	0	0	0	1	0	0	0	15985	1290	45	2	3128	2	TIAM2	6	155532355	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	45017943	155532355	15582712	69	87481											
MAS1	4142	broad.mit.edu	37	chr6	160328944	160328944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagacaattgtaatacggtCacagttgagactgtcgtcta	14	11	9	7	2	2	2	1	1	1	2	3	3	2	2	0	1	1	2	0	1	5	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:160328944C>T	ENST00000252660.4	+	1	971	c.957C>T	c.(955-957)gtC>gtT	p.V319V		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	319					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTAATACGGTCACAGTTGAGA	0.403													11	43					0	0	0	0	T	160328944	C	T	160328944	2	4	445	1	0	0	0	0	0	0	0	1	9389	813	29	2		2	MAS1	6	160328944	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	4796589	160328944	10786123	70	87482											
THSD7A	221981	broad.mit.edu	37	chr7	11500389	11500389	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcgccatttgtgagtcttCcacctacaagacaggaacag	11	9	9	12	1	1	2	0	1	1	1	2	3	2	3	3	1	3	0	3	1	3	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:11500389C>T	ENST00000423059.3	-	11	2756	c.2505G>A	c.(2503-2505)tgG>tgA	p.W835*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	835						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTGAGTCTTCCACCTACAAG	0.532										HNSCC(18;0.044)			5	13					0	0	0	0	T	11500389	C	T	11500389	4	4	445	1	0	0	0	0	0	1	0	0	15973	856	30	2	2536	2	THSD7A	7	11500389	Nonsense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		11500389	147638274	71	87483											
NPC1L1	29881	broad.mit.edu	37	chr7	44571799	44571799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggcttgacacagcagcaGacgtccaaccgggaggcctg	9	5	15	12	2	0	2	0	1	0	1	1	3	1	3	3	4	3	3	3	4	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:44571799G>A	ENST00000289547.4	-	9	2482	c.2427C>T	c.(2425-2427)gtC>gtT	p.V809V	NPC1L1_ENST00000546276.1_Silent_p.V809V|NPC1L1_ENST00000381160.3_Silent_p.V809V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	809					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CACAGCAGCAGACGTCCAACC	0.652													30	89					0	0	0	0	A	44571799	G	A	44571799	2	1	445	1	0	0	0	0	0	0	0	1	10641	929	33	2		2	NPC1L1	7	44571799	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	33071410	44571799	114566864	72	87484											
PCLO	27445	broad.mit.edu	37	chr7	82584766	82584766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttctgtcggagatgcatCttcaatgggagagagattac	10	12	11	8	1	4	3	1	0	3	3	5	6	4	3	0	2	2	1	0	2	2	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:82584766C>G	ENST00000423517.2	-	5	5840	c.5503G>C	c.(5503-5505)Gat>Cat	p.D1835H	PCLO_ENST00000333891.8_Missense_Mutation_p.D1835H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1766					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGATGCATCTTCAATGGGA	0.433													53	125					0	0	0	0	G	82584766	C	G	82584766	3	3	445	1	0	0	0	0	1	0	0	0	11654	913	32	2	10026	2	PCLO	7	82584766	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	38012967	82584766	76553897	73	87485			2	136		3	3	646	C		8.051158e-06
PCLO	27445	broad.mit.edu	37	chr7	82584883	82584883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctttctttgttgctgttCtatttccctctgcttttctt	2	24	4	11	0	5	0	0	0	5	0	6	0	6	0	1	0	2	4	1	0	1	9			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:82584883C>G	ENST00000423517.2	-	5	5723	c.5386G>C	c.(5386-5388)Gaa>Caa	p.E1796Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E1796Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1727					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGCTGTTCTATTTCCCTC	0.383													28	56					0	0	0	0	G	82584883	C	G	82584883	3	3	445	1	0	0	0	0	1	0	0	0	11654	922	32	2	10143	2	PCLO	7	82584883	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	117	82584883	76553780	74	87486			2	136		3	3	646	C		8.051158e-06
PCLO	27445	broad.mit.edu	37	chr7	82585411	82585411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtcttcctgcatcttcatCaatgcttgtgctactttttc	6	18	5	12	1	4	0	2	0	2	0	6	0	5	0	1	0	4	3	1	0	2	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:82585411C>G	ENST00000423517.2	-	5	5195	c.4858G>C	c.(4858-4860)Gat>Cat	p.D1620H	PCLO_ENST00000333891.8_Missense_Mutation_p.D1620H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1551					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATCTTCATCAATGCTTGTG	0.413													11	178					0	0	0	0	G	82585411	C	G	82585411	3	3	445	1	0	0	0	0	1	0	0	0	11654	826	29	2	10671	2	PCLO	7	82585411	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	528	82585411	76553252	75	87487			2	136		3	3	646	C		8.051158e-06
STEAP4	79689	broad.mit.edu	37	chr7	87908879	87908879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttgaagggctgaggaatCtcttcccaccgtacaccagg	10	9	11	11	1	1	2	0	2	1	0	3	4	2	3	3	3	1	2	3	3	3	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:87908879C>G	ENST00000380079.4	-	5	1315	c.1214G>C	c.(1213-1215)aGa>aCa	p.R405T	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.R229T	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	405					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GCTGAGGAATCTCTTCCCACC	0.433													6	28					0	0	0	0	G	87908879	C	G	87908879	3	3	445	1	0	0	0	0	1	0	0	0	15370	913	32	2	169	2	STEAP4	7	87908879	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	5323468	87908879	71229784	76	87488											
TRRAP	8295	broad.mit.edu	37	chr7	98563391	98563391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgagcatggagatgcGgaagaacttcatccaggcca	13	7	13	8	1	1	4	1	2	0	2	2	6	2	5	2	3	3	1	2	3	2	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:98563391G>A	ENST00000359863.4	+	48	7237	c.7028G>A	c.(7027-7029)cGg>cAg	p.R2343Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2325Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2325Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2343	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGAGATGCGGAAGAACTTC	0.527													11	50					0	0	0	0	A	98563391	G	A	98563391	3	1	445	1	0	0	0	0	1	0	0	0	16696	1116	39	1	7156	1	TRRAP	7	98563391	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	10654512	98563391	60575272	77	87489											
CYP3A4	1576	broad.mit.edu	37	chr7	99370264	99370264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactagcactgttttgatCatgtcaggatctgtgatagc	9	15	9	8	0	4	2	3	2	1	0	4	3	4	3	0	1	2	2	0	1	2	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:99370264C>T	ENST00000336411.2	-	4	450	c.267G>A	c.(265-267)atG>atA	p.M89I	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	89					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTGTTTTGATCATGTCAGGAT	0.353													4	120					0	0	0	0	T	99370264	C	T	99370264	3	4	445	1	0	0	0	0	1	0	0	0	4210	826	29	2	1284	2	CYP3A4	7	99370264	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	806873	99370264	59768399	78	87490											
MET	4233	broad.mit.edu	37	chr7	116340200	116340200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcaagccagattctgcCgaaccaatggatcgatctgc	13	7	9	12	2	2	1	0	0	2	1	3	4	2	2	3	1	5	1	3	1	4	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:116340200C>T	ENST00000397752.3	+	2	1262	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	MET_ENST00000436117.2_Silent_p.A354A|MET_ENST00000318493.6_Silent_p.A354A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	354	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGATTCTGCCGAACCAATGG	0.473			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				12	43					0	0	0	0	T	116340200	C	T	116340200	2	4	445	1	0	0	0	0	0	0	0	1	9554	639	23	1		1	MET	7	116340200	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	16969936	116340200	42798463	79	87491											
MTPN	136319	broad.mit.edu	37	chr7	135635385	135635385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacaggaaacatgaccctCatagacagcagacagaagag	18	3	9	11	0	1	5	1	1	0	4	1	6	1	6	1	1	2	1	1	1	3	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:135635385C>T	ENST00000393085.3	-	3	447	c.232G>A	c.(232-234)Gag>Aag	p.E78K	MTPN_ENST00000435723.1_Intron	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	78					cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding			endometrium(1)|lung(4)|prostate(1)	6						ACATGACCCTCATAGACAGCA	0.338													6	104					0	0	0	0	T	135635385	C	T	135635385	3	4	445	1	0	0	0	0	1	0	0	0	10027	835	29	2	132	2	MTPN	7	135635385	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	19295185	135635385	23503278	80	87492											
PSD3	23362	broad.mit.edu	37	chr8	18729586	18729586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaaaccaacactgcctGcagagtggcaggtcactgct	12	7	10	12	0	2	2	2	0	0	2	2	2	2	2	2	2	5	3	2	2	3	0			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:18729586G>A	ENST00000440756.2	-	3	890	c.788C>T	c.(787-789)gCa>gTa	p.A263V	PSD3_ENST00000327040.8_Missense_Mutation_p.A263V|PSD3_ENST00000523619.1_Missense_Mutation_p.A198V			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	263					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AACACTGCCTGCAGAGTGGCA	0.582													8	53					0	0	0	0	A	18729586	G	A	18729586	3	1	445	1	0	0	0	0	1	0	0	0	12727	1319	46	4	2447	4	PSD3	8	18729586	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		18729586	127634436	81	87493											
RAB2A	5862	broad.mit.edu	37	chr8	61533317	61533317	+	Frame_Shift_Del	DEL	G	G	-																															gaggacagcaggctgggggcGgctgctgttgagtctgtttt																										TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:61533317delG	ENST00000262646.7	+	8	979	c.628delG	c.(628-630)gcfs	p.G210fs	RAB2A_ENST00000531289.1_Frame_Shift_Del_p.G186fs|RAB2A_ENST00000529579.1_Frame_Shift_Del_p.A174fs|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	210					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGCTGGGGGCGGCTGCTGTTG	0.502													15	62	---	---	---	---					-	61533317	G	-	61533317	7	5	445	1	0	1	0	1	0	0	0	0	12999	1116	39	0	658	0	RAB2A	8	61533317	Frame_Shift_Del	DEL	G	TCGA-KU-A6H7-01A-11D-A31L-08	42803731	61533317	84830705	82	87494											
PDE7A	5150	broad.mit.edu	37	chr8	66639126	66639126	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacctgctttctaatggcaGatgtgagaataagcctgatt	11	13	9	8	0	1	3	0	2	1	2	1	4	1	3	2	1	3	2	2	1	4	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:66639126G>C	ENST00000401827.3	-	9	1347	c.904C>G	c.(904-906)Ctg>Gtg	p.L302V	PDE7A_ENST00000396642.3_Missense_Mutation_p.L302V|PDE7A_ENST00000379419.4_Missense_Mutation_p.L276V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	302	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	TCTAATGGCAGATGTGAGAAT	0.348													33	80					0	0	0	0	C	66639126	G	C	66639126	3	2	445	1	0	0	0	0	1	0	0	0	11722	933	33	2	596	2	PDE7A	8	66639126	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	5105809	66639126	79724896	83	87495											
TRIM55	84675	broad.mit.edu	37	chr8	67062613	67062613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcatttcagatggagaaAatagaacatggctatgagaa	18	8	11	4	0	1	4	1	1	0	4	1	6	1	4	0	3	1	2	0	3	7	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:67062613A>T	ENST00000315962.4	+	7	1270	c.897A>T	c.(895-897)aaA>aaT	p.K299N	TRIM55_ENST00000276573.7_Missense_Mutation_p.K299N|TRIM55_ENST00000353317.5_Missense_Mutation_p.K299N|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	299	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGATGGAGAAAATAGAACATG	0.378													14	52					0	0	0	0	T	67062613	A	T	67062613	3	4	445	1	0	0	0	0	1	0	0	0	16624	11	1	5	923	5	TRIM55	8	67062613	Missense_Mutation	SNP	A	TCGA-KU-A6H7-01A-11D-A31L-08	423487	67062613	79301409	84	87496											
MPDZ	8777	broad.mit.edu	37	chr9	13138131	13138131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagctcgcctgttagggttCcataacgctctctgatattt	7	14	9	11	2	1	1	0	1	1	0	4	1	2	1	2	1	2	5	2	1	3	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:13138131C>G	ENST00000319217.7	-	29	4272	c.4025G>C	c.(4024-4026)gGa>gCa	p.G1342A	MPDZ_ENST00000536827.1_Missense_Mutation_p.G1309A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1342A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.G201A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1356A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1342A|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1342A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1309A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1342					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTTAGGGTTCCATAACGCTC	0.393													4	24					0	0	0	0	G	13138131	C	G	13138131	3	3	445	1	0	0	0	0	1	0	0	0	9792	855	30	2	2172	2	MPDZ	9	13138131	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		13138131	128075300	85	87497											
SYK	6850	broad.mit.edu	37	chr9	93650884	93650884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccaagagagatgtacgatCtcatgaatctgtgctggaca	12	10	11	8	1	2	3	1	1	2	2	4	6	3	4	1	1	2	2	1	1	3	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:93650884C>T	ENST00000375754.4	+	13	1958	c.1810C>T	c.(1810-1812)Ctc>Ttc	p.L604F	SYK_ENST00000375746.1_Missense_Mutation_p.L604F|SYK_ENST00000375747.1_Missense_Mutation_p.L581F|SYK_ENST00000375751.4_Missense_Mutation_p.L581F	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	604	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GATGTACGATCTCATGAATCT	0.473			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								6	8					0	0	0	0	T	93650884	C	T	93650884	3	4	445	1	0	0	0	0	1	0	0	0	15529	913	32	2	1856	2	SYK	9	93650884	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	80512753	93650884	47562547	86	87498											
ABCA1	19	broad.mit.edu	37	chr9	107555499	107555499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagaacagtaatgaggaaGaacaccaccccttccacggc	15	5	8	13	1	1	3	1	1	0	2	2	4	2	4	4	2	2	1	4	2	4	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:107555499G>C	ENST00000374736.3	-	41	5983	c.5589C>G	c.(5587-5589)ttC>ttG	p.F1863L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1863					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAATGAGGAAGAACACCACCC	0.517													7	104					0	0	0	0	C	107555499	G	C	107555499	3	2	445	1	0	0	0	0	1	0	0	0	28	933	33	2	1236	2	ABCA1	9	107555499	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	13904615	107555499	33657932	87	87499											
RALGDS	5900	broad.mit.edu	37	chr9	135985758	135985758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaggaagatggtgacgtagGagaggtcgctgccctggaag	11	6	17	7	2	0	3	0	1	0	2	1	6	0	5	1	5	1	2	1	5	3	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:135985758G>C	ENST00000393160.3	-	3	601	c.248C>G	c.(247-249)tCc>tGc	p.S83C	RALGDS_ENST00000542690.1_Missense_Mutation_p.S209C|RALGDS_ENST00000372047.3_Missense_Mutation_p.S138C|RALGDS_ENST00000372050.3_Missense_Mutation_p.S138C|RALGDS_ENST00000393157.3_Missense_Mutation_p.S137C|RALGDS_ENST00000372062.3_Missense_Mutation_p.S121C	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	138					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGTGACGTAGGAGAGGTCGCT	0.577			T	CIITA	"PMBL, Hodgkin Lymphona, "								6	42					0	0	0	0	C	135985758	G	C	135985758	3	2	445	1	0	0	0	0	1	0	0	0	13098	1174	41	2	2395	2	RALGDS	9	135985758	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	28430259	135985758	5227673	88	87500											
NEBL	10529	broad.mit.edu	37	chr10	21117520	21117520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagtatctgctatggtaGaatagttagaaagcatcttc	13	12	10	6	0	2	2	0	0	2	2	3	3	2	3	0	2	2	5	0	2	7	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:21117520G>C	ENST00000377122.4	-	17	2111	c.1715C>G	c.(1714-1716)tCt>tGt	p.S572C	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	572					regulation of actin filament length		actin binding|structural constituent of muscle	p.S572F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTATGGTAGAATAGTTAGA	0.343													6	20					0	0	0	0	C	21117520	G	C	21117520	3	2	445	1	0	0	0	0	1	0	0	0	10373	942	33	2	1377	2	NEBL	10	21117520	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		21117520	114417227	89	87501											
FAS	355	broad.mit.edu	37	chr10	90768732	90768732	+	Frame_Shift_Del	DEL	G	G	-																															tttgtaactctactgtatgtGaacactgtgacccttgcacc																										TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:90768732delG	ENST00000355740.2	+	4	641	c.421delG	c.(421-423)aafs	p.E141fs	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Frame_Shift_Del_p.E141fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.E141fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.E141fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	141					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TACTGTATGTGAACACTGTGA	0.373													120	358	---	---	---	---					-	90768732	G	-	90768732	7	5	445	1	0	1	0	1	0	0	0	0	5726	1291	45	0	435	0	FAS	10	90768732	Frame_Shift_Del	DEL	G	TCGA-KU-A6H7-01A-11D-A31L-08	69651212	90768732	44766015	90	87502											
ABCC2	1244	broad.mit.edu	37	chr10	101604094	101604094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggcaccctgggtgactGataagaggcctccgccagat	9	6	13	13	1	0	4	0	2	0	2	1	4	1	4	5	3	0	1	5	3	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:101604094G>A	ENST00000370449.4	+	28	3972	c.3859G>A	c.(3859-3861)Gat>Aat	p.D1287N		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1287						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTGGGTGACTGATAAGAGGCC	0.527													20	39					0	0	0	0	A	101604094	G	A	101604094	3	1	445	1	0	0	0	0	1	0	0	0	53	1290	45	2	3969	2	ABCC2	10	101604094	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	10835362	101604094	33930653	91	87503											
DNMBP	23268	broad.mit.edu	37	chr10	101648654	101648654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggtcccggtgtcctctCtccatgcacacatcccacat	7	10	6	18	1	1	0	0	0	1	0	7	0	6	0	5	2	1	1	5	2	0	0			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:101648654C>T	ENST00000342239.3	-	12	3376	c.3285G>A	c.(3283-3285)gaG>gaA	p.E1095E	DNMBP_ENST00000543621.1_Silent_p.E317E|DNMBP_ENST00000540316.1_Silent_p.E7E|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000324109.4_Silent_p.E1071E			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1071	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			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)		GGTGTCCTCTCTCCATGCACA	0.498													11	35					0	0	0	0	T	101648654	C	T	101648654	2	4	445	1	0	0	0	0	0	0	0	1	4710	912	32	2		2	DNMBP	10	101648654	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	44560	101648654	33886093	92	87504											
TRIM21	6737	broad.mit.edu	37	chr11	4407008	4407008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtatgctctgctgggtgtctCcaagcctcacttgtctccga	5	13	10	13	1	4	0	1	0	3	0	6	1	4	0	3	1	3	3	3	1	2	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:4407008C>G	ENST00000254436.7	-	7	1047	c.935G>C	c.(934-936)gGa>gCa	p.G312A	TRIM21_ENST00000543625.1_Missense_Mutation_p.G312A	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	312	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			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)		CTGGGTGTCTCCAAGCCTCAC	0.502													3	12					0	0	0	0	G	4407008	C	G	4407008	3	3	445	1	0	0	0	0	1	0	0	0	16590	855	30	2	496	2	TRIM21	11	4407008	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		4407008	130599508	93	87505											
SPON1	10418	broad.mit.edu	37	chr11	14278223	14278223	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagctgacctggctccaGaagagaaagatgaaggtacg	13	8	13	7	1	0	5	0	2	0	3	1	6	1	5	2	2	2	4	2	2	5	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:14278223G>A	ENST00000310358.7	+	0	1829							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCTGGCTCCAGAAGAGAAAGA	0.393													14	47					0	0	0	0	A	14278223	G	A	14278223	1	1	445	0	1	0	0	0	0	0	0	0	15172	943	33	2		2	SPON1	11	14278223	RNA	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	9871215	14278223	120728293	94	87506											
SPTY2D1	144108	broad.mit.edu	37	chr11	18637573	18637573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcctcttggccatagctCttgctttcttgtcatgtttg	3	20	8	10	0	4	0	1	0	3	0	5	0	5	0	2	1	2	3	2	1	1	7			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:18637573C>T	ENST00000336349.5	-	3	483	c.248G>A	c.(247-249)aGa>aAa	p.R83K	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	83										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GGCCATAGCTCTTGCTTTCTT	0.403													6	61					0	0	0	0	T	18637573	C	T	18637573	3	4	445	1	0	0	0	0	1	0	0	0	15216	913	32	2	1825	2	SPTY2D1	11	18637573	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	4359350	18637573	116368943	95	87507											
NAV2	89797	broad.mit.edu	37	chr11	20129232	20129232	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccggctcttcctgtcatgCcccatcgatgtggacggctc	4	10	10	17	3	2	0	1	0	1	0	5	2	3	1	5	3	1	2	5	3	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:20129232C>T	ENST00000396085.1	+	37	7234	c.6873C>T	c.(6871-6873)tgC>tgT	p.C2291C	NAV2_ENST00000360655.4_Silent_p.C2224C|NAV2_ENST00000527559.2_Silent_p.C2276C|NAV2_ENST00000349880.4_Silent_p.C2288C|NAV2_ENST00000311043.8_Silent_p.C1352C|NAV2_ENST00000533917.1_Silent_p.C1352C|NAV2_ENST00000396087.3_Silent_p.C2347C|NAV2_ENST00000540292.1_Silent_p.C2278C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2347						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCTGTCATGCCCCATCGATG	0.552													5	460					0	0	0	0	T	20129232	C	T	20129232	2	4	445	1	0	0	0	0	0	0	0	1	10254	747	26	4		4	NAV2	11	20129232	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	1491659	20129232	114877284	96	87508											
OR4B1	119765	broad.mit.edu	37	chr11	48238859	48238859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttatcatccaattgcccttCtgtggtcccaatgtgattga	8	15	8	10	0	2	2	1	2	1	0	4	2	4	2	3	1	1	1	3	1	3	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:48238859C>T	ENST00000309562.2	+	1	516	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AATTGCCCTTCTGTGGTCCCA	0.488													20	81					0	0	0	0	T	48238859	C	T	48238859	2	4	445	1	0	0	0	0	0	0	0	1	11115	912	32	2		2	OR4B1	11	48238859	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	28109627	48238859	86767657	97	87509											
LRP5	4041	broad.mit.edu	37	chr11	68153966	68153966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcgggccatccgcaggGcgtacctggacgggtctggg	5	6	19	11	4	1	0	0	0	1	0	2	1	2	1	3	6	2	2	3	6	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:68153966G>A	ENST00000294304.7	+	6	1304	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	400	Beta-propeller 2.		A -> E (in OPPG).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCGCAGGGCGTACCTGGA	0.642													17	61					0	0	0	0	A	68153966	G	A	68153966	3	1	445	1	0	0	0	0	1	0	0	0	9024	1203	42	4	1220	4	LRP5	11	68153966	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	19915107	68153966	66852550	98	87510											
CTSC	1075	broad.mit.edu	37	chr11	88045588	88045588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttaaggtgtgctatgttGacatacacattctcagaggc	10	14	9	8	0	2	2	1	1	2	1	3	2	2	2	0	2	2	2	0	2	3	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:88045588G>A	ENST00000227266.5	-	3	567	c.453C>T	c.(451-453)gtC>gtT	p.V151V		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	151					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGCTATGTTGACATACACAT	0.418													33	118					0	0	0	0	A	88045588	G	A	88045588	2	1	445	1	0	0	0	0	0	0	0	1	4063	1277	45	2		2	CTSC	11	88045588	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	19891622	88045588	46960928	99	87511											
OR4D5	219875	broad.mit.edu	37	chr11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccccatggacaaggccGtctctgtgctatacacaatt	10	11	7	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	1	3	2	4	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													24	109					0	0	0	0	A	123811134	G	A	123811134	3	1	445	1	0	0	0	0	1	0	0	0	11128	1145	40	1	813	1	OR4D5	11	123811134	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	35765546	123811134	11195382	100	87512											
OR4D5	219875	broad.mit.edu	37	chr11	123811260	123811260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaccctattggtcccctgGagcacagacccttacattag	10	9	9	13	0	0	1	0	0	0	1	1	3	1	3	4	3	2	1	4	3	3	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:123811260G>A	ENST00000307033.2	+	1	1011	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTCCCCTGGAGCACAGACC	0.493													5	102					0	0	0	0	A	123811260	G	A	123811260	3	1	445	1	0	0	0	0	1	0	0	0	11128	1175	41	2	939	2	OR4D5	11	123811260	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	126	123811260	11195256	101	87513											
ACAD8	27034	broad.mit.edu	37	chr11	134128475	134128475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaattttgcccaccgctCtgtaccatggagaagtttgc	10	11	8	12	1	1	1	0	0	1	1	1	2	1	1	3	1	3	3	3	1	3	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:134128475C>T	ENST00000281182.4	+	4	553	c.447C>T	c.(445-447)ctC>ctT	p.L149L	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000543332.1_Silent_p.L51L|ACAD8_ENST00000537423.1_Silent_p.L72L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	149					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GCCCACCGCTCTGTACCATGG	0.473													5	18					0	0	0	0	T	134128475	C	T	134128475	2	4	445	1	0	0	0	0	0	0	0	1	110	900	32	2		2	ACAD8	11	134128475	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	10317215	134128475	878041	102	87514											
ITPR2	3709	broad.mit.edu	37	chr12	26493139	26493139	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgacccgacagctgtttGaccagactcatggtcgattc	9	10	10	12	2	1	3	1	2	0	1	3	5	1	3	2	1	2	3	2	1	0	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:26493139G>C	ENST00000381340.3	-	56	8396	c.7980C>G	c.(7978-7980)gtC>gtG	p.V2660V	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2660					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACAGCTGTTTGACCAGACTCA	0.552													18	75					0	0	0	0	C	26493139	G	C	26493139	2	2	445	1	0	0	0	0	0	0	0	1	7974	1277	45	2		2	ITPR2	12	26493139	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		26493139	107358756	103	87515			3	137		3	3	79	G		1.166867e-07
ITPR2	3709	broad.mit.edu	37	chr12	26493171	26493171	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcgattccaacttctcctGaaggctccgaatttcatttt	8	15	7	11	2	2	1	1	1	1	0	6	3	4	1	3	2	1	1	3	2	3	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:26493171G>A	ENST00000381340.3	-	56	8364	c.7948C>T	c.(7948-7950)Cag>Tag	p.Q2650*	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2650					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACTTCTCCTGAAGGCTCCGA	0.532													12	68					0	0	0	0	A	26493171	G	A	26493171	4	1	445	1	0	0	0	0	0	1	0	0	7974	1299	45	2	165	2	ITPR2	12	26493171	Nonsense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	32	26493171	107358724	104	87516			3	137		3	3	79	G		1.166867e-07
ITPR2	3709	broad.mit.edu	37	chr12	26493217	26493217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcgccttcattgctaacGagggacatggctcgcatccg	7	10	11	13	4	1	0	1	0	0	0	4	2	2	1	2	2	2	3	2	2	1	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:26493217G>A	ENST00000381340.3	-	56	8318	c.7902C>T	c.(7900-7902)ctC>ctT	p.L2634L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2634					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CATTGCTAACGAGGGACATGG	0.478													5	41					0	0	0	0	A	26493217	G	A	26493217	2	1	445	1	0	0	0	0	0	0	0	1	7974	1045	37	1		1	ITPR2	12	26493217	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	46	26493217	107358678	105	87517			3	137		3	3	79	G		1.166867e-07
LRRK2	120892	broad.mit.edu	37	chr12	40704287	40704287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacacatttggatgtttctGatgagaagcaacgcaaagcc	13	9	10	9	1	1	2	0	2	1	1	1	4	1	3	1	1	3	4	1	1	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:40704287G>A	ENST00000298910.7	+	31	4430	c.4372G>A	c.(4372-4374)Gat>Aat	p.D1458N		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1458	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGATGTTTCTGATGAGAAGCA	0.478													27	81					0	0	0	0	A	40704287	G	A	40704287	3	1	445	1	0	0	0	0	1	0	0	0	9097	1290	45	2	4494	2	LRRK2	12	40704287	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	14211070	40704287	93147608	106	87518											
PRPF40B	25766	broad.mit.edu	37	chr12	50030561	50030561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgagctttggagagggaaGaggaggaggaacgggagcgg	11	4	21	5	3	0	2	0	0	0	2	1	9	1	7	1	7	3	1	1	7	2	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:50030561G>C	ENST00000261897.1	+	15	1956	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	PRPF40B_ENST00000380281.1_Missense_Mutation_p.E475Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E497Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	475					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGAGGGAAGAGGAGGAGGA	0.567											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	119					0	0	0	0	C	50030561	G	C	50030561	3	2	445	1	0	0	0	0	1	0	0	0	12652	943	33	2	1481	2	PRPF40B	12	50030561	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	9326274	50030561	83821334	107	87519											
ARHGAP9	64333	broad.mit.edu	37	chr12	57869285	57869285	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagctccggcggctgctGaggcgcagcagcggcttgga	5	6	18	12	4	0	1	0	1	0	0	1	3	1	3	1	6	4	6	1	6	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:57869285G>C	ENST00000393797.2	-	14	1887	c.1695C>G	c.(1693-1695)ctC>ctG	p.L565L	ARHGAP9_ENST00000356411.2_Silent_p.L494L|ARHGAP9_ENST00000393791.3_Silent_p.L475L|ARHGAP9_ENST00000550288.1_Silent_p.L554L|ARHGAP9_ENST00000424809.2_Silent_p.L475L|ARHGAP9_ENST00000430041.2_Silent_p.L291L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	494	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGCGGCTGCTGAGGCGCAGCA	0.731													4	10					0	0	0	0	C	57869285	G	C	57869285	2	2	445	1	0	0	0	0	0	0	0	1	891	1277	45	2		2	ARHGAP9	12	57869285	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	7838724	57869285	75982610	108	87520											
PHLDA1	22822	broad.mit.edu	37	chr12	76424831	76424831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgttggagaagtgcagttCcttgagcttgaccggcggct	7	11	14	9	2	0	3	0	2	0	1	1	4	1	3	2	3	2	5	2	3	1	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:76424831C>T	ENST00000266671.5	-	1	2881	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.E90K			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	231	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				AAGTGCAGTTCCTTGAGCTTG	0.627													7	79					0	0	0	0	T	76424831	C	T	76424831	3	4	445	1	0	0	0	0	1	0	0	0	11920	864	30	2	518	2	PHLDA1	12	76424831	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	18555546	76424831	57427064	109	87521											
LRRIQ1	84125	broad.mit.edu	37	chr12	85434298	85434298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattaccagaatcagttcttCactgtattaacatcataaag	16	13	4	8	0	4	1	3	0	1	1	4	1	4	1	1	0	2	2	1	0	7	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:85434298C>T	ENST00000393217.2	+	3	224	c.163C>T	c.(163-165)Cac>Tac	p.H55Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	55										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGTTCTTCACTGTATTAA	0.303													7	45					0	0	0	0	T	85434298	C	T	85434298	3	4	445	1	0	0	0	0	1	0	0	0	9093	826	29	2	169	2	LRRIQ1	12	85434298	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	9009467	85434298	48417597	110	87522											
EEA1	8411	broad.mit.edu	37	chr12	93226487	93226487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtttcagatgcagacaatCttgactgaagctgttgacaa	13	11	10	7	0	2	5	1	3	1	2	2	5	2	5	0	1	2	4	0	1	3	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:93226487C>G	ENST00000322349.8	-	11	1319	c.1055G>C	c.(1054-1056)aGa>aCa	p.R352T		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	352					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGCAGACAATCTTGACTGAAG	0.363													5	52					0	0	0	0	G	93226487	C	G	93226487	3	3	445	1	0	0	0	0	1	0	0	0	4957	913	32	2	3256	2	EEA1	12	93226487	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	7792189	93226487	40625408	111	87523											
PRDM4	11108	broad.mit.edu	37	chr12	108128117	108128117	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcctctggtgctgacGaactggaggtgggccctttg	4	12	13	12	1	1	1	0	1	1	0	3	3	3	2	3	4	2	1	3	4	1	2	rs148191921		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:108128117G>T	ENST00000228437.5	-	12	2735	c.2276C>A	c.(2275-2277)tCg>tAg	p.S759*		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	759					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGGTGCTGACGAACTGGAGGT	0.473													21	93					2.54575e-18	2.73698e-18	1	0	T	108128117	G	T	108128117	4	4	445	1	0	0	0	0	0	1	0	0	12539	1059	37	3	133	3	PRDM4	12	108128117	Nonsense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	14901630	108128117	25723778	112	87524											
RPH3A	22895	broad.mit.edu	37	chr12	113325692	113325692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaactgaagcccaaccagagGaagaatttcaacatctgcct	16	7	7	11	0	2	3	1	1	1	2	2	4	2	4	3	1	5	0	3	1	6	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:113325692G>C	ENST00000389385.4	+	17	2024	c.1527G>C	c.(1525-1527)agG>agC	p.R509S	RPH3A_ENST00000543106.2_Missense_Mutation_p.R509S|RPH3A_ENST00000548866.1_Missense_Mutation_p.R460S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.R505S|RPH3A_ENST00000420983.2_Missense_Mutation_p.R509S|RPH3A_ENST00000447659.2_Missense_Mutation_p.R460S|RPH3A_ENST00000415485.3_Missense_Mutation_p.R509S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	509					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCAACCAGAGGAAGAATTTCA	0.502													4	182					0	0	0	0	C	113325692	G	C	113325692	3	2	445	1	0	0	0	0	1	0	0	0	13636	1165	41	2	1585	2	RPH3A	12	113325692	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	5197575	113325692	20526203	113	87525											
HSPB8	26353	broad.mit.edu	37	chr12	119617124	119617124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgagcagccaccatggctGacggtcagatgcccttctcc	7	8	11	15	1	2	3	1	2	1	1	3	3	2	3	4	2	3	3	4	2	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:119617124G>A	ENST00000281938.2	+	1	678	c.7G>A	c.(7-9)Gac>Aac	p.D3N		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	3					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCATGGCTGACGGTCAGAT	0.607													7	137					0	0	0	0	A	119617124	G	A	119617124	3	1	445	1	0	0	0	0	1	0	0	0	7476	1290	45	2	9	2	HSPB8	12	119617124	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	6291432	119617124	14234771	114	87526											
IL17D	53342	broad.mit.edu	37	chr13	21295937	21295937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccccgcctgcgccggCggccgttccgtctacaccga	4	5	11	21	8	1	0	0	0	1	0	2	1	2	0	7	2	2	2	7	2	1	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr13:21295937C>T	ENST00000304920.3	+	3	561	c.453C>T	c.(451-453)ggC>ggT	p.G151G		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	151					inflammatory response	extracellular space	cytokine activity			endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		CCTGCGCCGGCGGCCGTTCCG	0.706													19	113					0	0	0	0	T	21295937	C	T	21295937	2	4	445	1	0	0	0	0	0	0	0	1	7690	755	27	1		1	IL17D	13	21295937	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		21295937	93873941	115	87527											
RB1	5925	broad.mit.edu	37	chr13	48936983	48936983	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacccattaatggttcacctCgaacacccaggcgaggtcag	11	8	9	13	2	2	0	2	0	0	0	3	2	2	0	3	3	2	1	3	3	3	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr13:48936983C>T	ENST00000267163.4	+	8	889	c.751C>T	c.(751-753)Cga>Tga	p.R251*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	251					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.?(6)|p.R251*(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)	TGGTTCACCTCGAACACCCAG	0.343		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)			19	36					0	0	0	0	T	48936983	C	T	48936983	4	4	445	1	0	0	0	0	0	1	0	0	13180	876	31	1	781	1	RB1	13	48936983	Nonsense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	27641046	48936983	66232895	116	87528											
FARP1	10160	broad.mit.edu	37	chr13	99037976	99037976	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagattgcccgtcggctaGagatgtatggaatccggttg	9	11	14	7	3	0	2	0	0	0	2	2	5	1	3	2	3	1	3	2	3	4	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr13:99037976G>T	ENST00000376586.2	+	8	1003	c.667G>T	c.(667-669)Gag>Tag	p.E223*	FARP1_ENST00000595437.1_Nonsense_Mutation_p.E223*|FARP1_ENST00000319562.6_Nonsense_Mutation_p.E223*			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	223	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCGTCGGCTAGAGATGTATGG	0.488													19	91					1.2644e-06	1.29842e-06	1	0	T	99037976	G	T	99037976	4	4	445	1	0	0	0	0	0	1	0	0	5721	943	33	2	916	2	FARP1	13	99037976	Nonsense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	50100993	99037976	16131902	117	87529											
OR10G2	26534	broad.mit.edu	37	chr14	22102114	22102114	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttcacttcctggttcctCagtgtatagatgagggggtt	7	14	12	8	0	2	2	2	1	0	1	4	3	4	2	2	3	0	3	2	3	2	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:22102114C>T	ENST00000542433.1	-	1	982	c.885G>A	c.(883-885)ctG>ctA	p.L295L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CCTGGTTCCTCAGTGTATAGA	0.478													6	82					0	0	0	0	T	22102114	C	T	22102114	2	4	445	1	0	0	0	0	0	0	0	1	10970	813	29	2		2	OR10G2	14	22102114	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		22102114	85247426	118	87530											
ADCY4	196883	broad.mit.edu	37	chr14	24789008	24789008	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctaggccctcatgattGatgttggattcagagtagaa	11	12	10	8	0	3	4	2	2	1	2	3	5	3	5	1	2	0	2	1	2	3	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:24789008G>T	ENST00000310677.4	-	22	2786	c.2673C>A	c.(2671-2673)atC>atA	p.I891I	ADCY4_ENST00000418030.2_Silent_p.I891I|ADCY4_ENST00000554068.2_Silent_p.I891I	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	891					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTCATGATTGATGTTGGATT	0.473													6	44					3.59834e-05	3.67866e-05	1	0	T	24789008	G	T	24789008	2	4	445	1	0	0	0	0	0	0	0	1	296	1280	45	2		2	ADCY4	14	24789008	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	2686894	24789008	82560532	119	87531			4	138		3	3	41	G		3.031302e-08
ADCY4	196883	broad.mit.edu	37	chr14	24789035	24789035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattcagagtagaactccttGaagtctgggactgaggcgaa	12	9	13	7	1	2	4	1	2	1	2	3	7	3	5	1	2	1	1	1	2	4	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:24789035G>A	ENST00000310677.4	-	22	2759	c.2646C>T	c.(2644-2646)ttC>ttT	p.F882F	ADCY4_ENST00000418030.2_Silent_p.F882F|ADCY4_ENST00000554068.2_Silent_p.F882F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	882					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGAACTCCTTGAAGTCTGGGA	0.478													7	50					0	0	0	0	A	24789035	G	A	24789035	2	1	445	1	0	0	0	0	0	0	0	1	296	1281	45	2		2	ADCY4	14	24789035	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	27	24789035	82560505	120	87532			4	138		3	3	41	G		3.031302e-08
ADCY4	196883	broad.mit.edu	37	chr14	24789048	24789048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccttgaagtctgggactGaggcgaagaggacacaaacg	13	6	13	9	2	1	3	0	2	1	1	2	6	2	5	1	3	1	0	1	3	3	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:24789048G>A	ENST00000310677.4	-	22	2746	c.2633C>T	c.(2632-2634)tCa>tTa	p.S878L	ADCY4_ENST00000418030.2_Missense_Mutation_p.S878L|ADCY4_ENST00000554068.2_Missense_Mutation_p.S878L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	878					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTCTGGGACTGAGGCGAAGAG	0.493													6	48					0	0	0	0	A	24789048	G	A	24789048	3	1	445	1	0	0	0	0	1	0	0	0	296	1294	45	2	620	2	ADCY4	14	24789048	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	13	24789048	82560492	121	87533			4	138		3	3	41	G		3.031302e-08
ARID4A	5926	broad.mit.edu	37	chr14	58790207	58790207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattctaacttttagtactGaagatgaaaaggaagaagaa	18	12	8	3	0	1	5	0	2	1	3	1	6	1	6	0	1	2	1	0	1	10	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:58790207G>A	ENST00000355431.3	+	8	827	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	ARID4A_ENST00000431317.2_Missense_Mutation_p.E152K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E152K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E152K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	152					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTTAGTACTGAAGATGAAAA	0.328													11	33					0	0	0	0	A	58790207	G	A	58790207	3	1	445	1	0	0	0	0	1	0	0	0	921	1291	45	2	480	2	ARID4A	14	58790207	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	34001159	58790207	48559333	122	87534											
SYNJ2BP	55333	broad.mit.edu	37	chr14	70855193	70855193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcccattctcaccgaaagGatcttatcaccctcctggag	11	9	7	14	1	3	0	2	0	2	0	5	3	4	2	4	2	1	0	4	2	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:70855193G>T	ENST00000256366.4	-	2	276	c.195C>A	c.(193-195)atC>atA	p.I65I	RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		TCACCGAAAGGATCTTATCAC	0.542													7	26					1.06961e-07	1.10833e-07	1	0	T	70855193	G	T	70855193	2	4	445	1	0	0	0	0	0	0	0	1	15545	1164	41	2		2	SYNJ2BP	14	70855193	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	12064986	70855193	36494347	123	87535											
FOS	2353	broad.mit.edu	37	chr14	75748023	75748023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcgtcttcacctaccccGaggctgactccttccccagc	5	10	6	20	2	2	1	1	1	1	0	5	2	4	1	7	1	2	1	7	1	1	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:75748023G>A	ENST00000303562.4	+	4	1248	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	FOS_ENST00000555686.1_Missense_Mutation_p.E233K|FOS_ENST00000535987.1_Missense_Mutation_p.E311K|FOS_ENST00000555347.1_Missense_Mutation_p.E199K	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	347					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CACCTACCCCGAGGCTGACTC	0.642													27	112					0	0	0	0	A	75748023	G	A	75748023	3	1	445	1	0	0	0	0	1	0	0	0	6030	1059	37	1	1053	1	FOS	14	75748023	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	4892830	75748023	31601517	124	87536											
TTLL5	23093	broad.mit.edu	37	chr14	76187031	76187031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaaacctttgttcctcatCgcagcagttgttttggtaag	9	15	9	8	1	1	0	1	0	0	0	3	0	2	0	2	1	2	7	2	1	3	7			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:76187031C>T	ENST00000298832.9	+	12	1232	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Missense_Mutation_p.R343C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	343	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTTCCTCATCGCAGCAGTTG	0.428													34	110					0	0	0	0	T	76187031	C	T	76187031	3	4	445	1	0	0	0	0	1	0	0	0	16826	884	31	1	1069	1	TTLL5	14	76187031	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	439008	76187031	31162509	125	87537											
ISM2	145501	broad.mit.edu	37	chr14	77948830	77948830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggatagtcctcgtcttcctCcttttcctcccccttctccc	3	15	4	19	1	2	0	0	0	2	0	9	1	7	1	7	1	0	0	7	1	1	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:77948830C>T	ENST00000393684.3	-	5	935	c.544G>A	c.(544-546)Gag>Aag	p.E182K	ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Missense_Mutation_p.E189K|ISM2_ENST00000429906.1_Missense_Mutation_p.E189K|ISM2_ENST00000342219.4_Missense_Mutation_p.E270K			Q6H9L7	ISM2_HUMAN	isthmin 2	270						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						tcgtcttcctccttttcctcc	0.552													16	47					0	0	0	0	T	77948830	C	T	77948830	3	4	445	1	0	0	0	0	1	0	0	0	7914	864	30	2	923	2	ISM2	14	77948830	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	1761799	77948830	29400710	126	87538											
SERPINA3	12	broad.mit.edu	37	chr14	95088735	95088735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagggactataacctgaaCgacatacttctccagctggg	11	9	10	11	2	1	1	0	1	1	0	3	4	1	2	2	2	4	1	2	2	4	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:95088735C>T	ENST00000553947.1	+	7	1938	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	SERPINA3_ENST00000467132.1_Silent_p.N325N|SERPINA3_ENST00000393078.3_Silent_p.N325N|SERPINA3_ENST00000393080.4_Silent_p.N325N|SERPINA3_ENST00000482740.1_Silent_p.N107N|SERPINA3_ENST00000556388.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	325					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATAACCTGAACGACATACTTC	0.498													7	69					0	0	0	0	T	95088735	C	T	95088735	2	4	445	1	0	0	0	0	0	0	0	1	14177	535	19	1		1	SERPINA3	14	95088735	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	17139905	95088735	12260805	127	87539											
PLA2G4D	283748	broad.mit.edu	37	chr15	42373213	42373213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accacgtagagccagagatgCcactgaagtaggtcacacag	14	5	11	11	1	1	3	1	1	0	2	1	4	1	3	3	1	2	2	3	1	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr15:42373213C>T	ENST00000290472.3	-	12	1170	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	359	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCCAGAGATGCCACTGAAGTA	0.607													11	33					0	0	0	0	T	42373213	C	T	42373213	3	4	445	1	0	0	0	0	1	0	0	0	12076	739	26	4	1416	4	PLA2G4D	15	42373213	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		42373213	60158179	128	87540											
SLTM	79811	broad.mit.edu	37	chr15	59192011	59192011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgagatgttgtcatcctCagcttctttcacagtcgtat	8	14	8	11	2	4	1	3	0	1	1	6	3	5	1	2	0	1	3	2	0	1	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr15:59192011C>T	ENST00000380516.2	-	7	802	c.715G>A	c.(715-717)Gag>Aag	p.E239K	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	239	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGTCATCCTCAGCTTCTTTC	0.443													13	56					0	0	0	0	T	59192011	C	T	59192011	3	4	445	1	0	0	0	0	1	0	0	0	14842	835	29	2	2449	2	SLTM	15	59192011	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	16818798	59192011	43339381	129	87541											
TLN2	83660	broad.mit.edu	37	chr15	62989911	62989911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatcttgcagcagcagttCaaccggaccgggaaggcaga	12	5	12	12	2	2	1	1	0	1	1	2	3	2	3	3	3	4	5	3	3	2	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr15:62989911C>T	ENST00000561311.1	+	14	1547	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	TLN2_ENST00000306829.6_Silent_p.F439F			Q9Y4G6	TLN2_HUMAN	talin 2	439					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCAGCAGTTCAACCGGACCG	0.617													6	178					0	0	0	0	T	62989911	C	T	62989911	2	4	445	1	0	0	0	0	0	0	0	1	16042	825	29	2		2	TLN2	15	62989911	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	3797900	62989911	39541481	130	87542											
CACNA1H	8912	broad.mit.edu	37	chr16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgcgccatcaaccgcGtgcctagtaagtgaccggcc	7	6	10	18	5	1	1	1	1	0	0	2	1	2	1	7	1	2	1	7	1	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:1246017G>A	ENST00000348261.5	+	5	885	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	213					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCAACCGCGTGCCTAGTAA	0.652													25	47					0	0	0	0	A	1246017	G	A	1246017	3	1	445	1	0	0	0	0	1	0	0	0	2570	1145	40	1	651	1	CACNA1H	16	1246017	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		1246017	89108736	131	87543											
MAZ	4150	broad.mit.edu	37	chr16	29818686	29818686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggccctacatctgcgctCtgtgcgccaaggagttcaag	8	8	13	12	2	3	0	1	0	2	0	3	1	3	1	2	3	3	2	2	3	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:29818686C>G	ENST00000219782.6	+	2	686	c.580C>G	c.(580-582)Ctg>Gtg	p.L194V	MAZ_ENST00000566906.2_Intron|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.L171V|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000322945.6_Missense_Mutation_p.L194V	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	194					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CATCTGCGCTCTGTGCGCCAA	0.647													10	19					0	0	0	0	G	29818686	C	G	29818686	3	3	445	1	0	0	0	0	1	0	0	0	9409	912	32	2	586	2	MAZ	16	29818686	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	28572669	29818686	60536067	132	87544											
CHD9	80205	broad.mit.edu	37	chr16	53358331	53358331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctacggaatctgggacaGaagacaaaaagggaagtgac	17	4	13	7	1	1	3	0	1	1	2	1	6	1	6	1	3	2	0	1	3	6	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:53358331G>A	ENST00000566029.1	+	39	8379	c.8170G>A	c.(8170-8172)Gaa>Aaa	p.E2724K	CHD9_ENST00000398510.3_Missense_Mutation_p.E2740K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2724K|CHD9_ENST00000447540.1_Missense_Mutation_p.E2725K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2740					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCTGGGACAGAAGACAAAAA	0.478													15	42					0	0	0	0	A	53358331	G	A	53358331	3	1	445	1	0	0	0	0	1	0	0	0	3361	943	33	2	8320	2	CHD9	16	53358331	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	23539645	53358331	36996422	133	87545											
NLRC5	84166	broad.mit.edu	37	chr16	57111636	57111636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccccctcccacagcctctCagggaatagcatcagctcag	9	6	8	18	0	3	0	3	0	1	0	5	1	4	1	5	1	3	2	5	1	2	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:57111636C>T	ENST00000262510.6	+	42	5150	c.4925C>T	c.(4924-4926)tCa>tTa	p.S1642L	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.S1613L|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1613L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1642					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACAGCCTCTCAGGGAATAGC	0.647													21	52					0	0	0	0	T	57111636	C	T	57111636	3	4	445	1	0	0	0	0	1	0	0	0	10540	838	29	2	5083	2	NLRC5	16	57111636	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	3753305	57111636	33243117	134	87546											
CDH11	1009	broad.mit.edu	37	chr16	65022083	65022083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttcagctttatcaccccctCctgtgtttcatagtccgttg	5	17	6	13	1	3	0	3	0	0	0	5	0	5	0	4	0	1	3	4	0	2	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:65022083C>G	ENST00000394156.3	-	7	1429	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	CDH11_ENST00000566827.1_Missense_Mutation_p.E200Q|CDH11_ENST00000268603.4_Missense_Mutation_p.E326Q			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	326	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATCACCCCCTCCTGTGTTTCA	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			22	93					0	0	0	0	G	65022083	C	G	65022083	3	3	445	1	0	0	0	0	1	0	0	0	3126	864	30	2	1442	2	CDH11	16	65022083	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	7910447	65022083	25332670	135	87547											
DHX38	9785	broad.mit.edu	37	chr16	72139145	72139145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcaggtgacctcagaccaGattgtggagcatctggagga	10	9	13	9	0	3	3	2	1	2	2	4	6	3	6	2	4	1	1	2	4	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:72139145G>C	ENST00000268482.3	+	17	2786	c.2277G>C	c.(2275-2277)caG>caC	p.Q759H	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	759	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCTCAGACCAGATTGTGGAGC	0.567													12	23					0	0	0	0	C	72139145	G	C	72139145	3	2	445	1	0	0	0	0	1	0	0	0	4548	933	33	2	2339	2	DHX38	16	72139145	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	7117062	72139145	18215608	136	87548											
TRPV1	7442	broad.mit.edu	37	chr17	3494382	3494382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggttgagcatggctttCagcagacaggtcttccctgt	7	12	12	10	0	2	2	1	1	1	1	3	2	3	2	1	3	3	5	1	3	0	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:3494382C>T	ENST00000174621.6	-	3	763	c.474G>A	c.(472-474)ctG>ctA	p.L158L	TRPV1_ENST00000310522.5_Silent_p.L160L|TRPV1_ENST00000576351.1_Silent_p.L160L|TRPV1_ENST00000571088.1_Silent_p.L160L|TRPV1_ENST00000399759.3_Silent_p.L160L|TRPV1_ENST00000425167.2_Silent_p.L160L|TRPV1_ENST00000399756.4_Silent_p.L160L|SHPK_ENST00000572705.1_Silent_p.L160L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	160					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCATGGCTTTCAGCAGACAGG	0.637													5	16					0	0	0	0	T	3494382	C	T	3494382	2	4	445	1	0	0	0	0	0	0	0	1	16690	813	29	2		2	TRPV1	17	3494382	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		3494382	77700828	137	87549											
ENO3	2027	broad.mit.edu	37	chr17	4858564	4858564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggtgatgaaggtggcttCgcacccaacatcctggagaa	10	8	14	9	1	0	3	0	2	0	1	2	4	1	3	2	4	1	2	2	4	3	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:4858564C>T	ENST00000323997.6	+	7	771	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ENO3_ENST00000518175.1_Silent_p.F213F|ENO3_ENST00000519584.1_Silent_p.F170F	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	213					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AAGGTGGCTTCGCACCCAACA	0.607													13	45					0	0	0	0	T	4858564	C	T	4858564	2	4	445	1	0	0	0	0	0	0	0	1	5161	883	31	1		1	ENO3	17	4858564	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	1364182	4858564	76336646	138	87550											
KRBA2	124751	broad.mit.edu	37	chr17	8272706	8272706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatagccaaacattgcctCaaatggactttgctgcaagg	12	12	8	9	0	1	0	1	0	0	0	1	1	1	1	2	2	5	2	2	2	5	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:8272706C>G	ENST00000396267.1	-	2	1810	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.E409Q			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	409	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AACATTGCCTCAAATGGACTT	0.468													16	67					0	0	0	0	G	8272706	C	G	8272706	3	3	445	1	0	0	0	0	1	0	0	0	8492	835	29	2	257	2	KRBA2	17	8272706	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	3414142	8272706	72922504	139	87551											
TRIM16L	147166	broad.mit.edu	37	chr17	18635351	18635351	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaactctcttgattttctaGaggagtatgacatcagaact	13	13	7	8	0	3	4	1	2	2	2	4	5	3	5	0	1	2	1	0	1	4	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:18635351G>C	ENST00000449552.2	+	6	1851		c.e6-1		TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395671.4_Splice_Site|TRIM16L_ENST00000571708.1_Splice_Site|TRIM16L_ENST00000572555.1_Splice_Site|TRIM16L_ENST00000395672.2_Splice_Site|TRIM16L_ENST00000395902.3_Splice_Site			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like							cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TGATTTTCTAGAGGAGTATGA	0.498													11	45					0	0	0	0	C	18635351	G	C	18635351	5	2	445	1	0	0	0	0	0	0	1	0	16587	956	33	2	377	2	TRIM16L	17	18635351	Splice_Site	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	10362645	18635351	62559859	140	87552											
NOS2	4843	broad.mit.edu	37	chr17	26114709	26114709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggcaagccttactctttGaaggagccgtaatattggtt	10	12	12	7	1	1	1	0	1	1	0	1	3	1	3	2	4	3	3	2	4	5	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:26114709G>A	ENST00000313735.6	-	5	695	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	154				F -> L (in Ref. 4; AAA56666).	arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTTACTCTTTGAAGGAGCCGT	0.527													8	117					0	0	0	0	A	26114709	G	A	26114709	2	1	445	1	0	0	0	0	0	0	0	1	10613	1281	45	2		2	NOS2	17	26114709	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	7479358	26114709	55080501	141	87553											
ATAD5	79915	broad.mit.edu	37	chr17	29185216	29185216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatttactgaagaagtaaGaaatcttttgcttgaggaaa	16	12	10	3	0	1	4	0	2	1	2	1	6	1	6	0	2	2	2	0	2	7	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:29185216G>C	ENST00000321990.4	+	9	3209	c.2831G>C	c.(2830-2832)aGa>aCa	p.R944T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	944					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGAAGTAAGAAATCTTTTG	0.303													3	41					0	0	0	0	C	29185216	G	C	29185216	3	2	445	1	0	0	0	0	1	0	0	0	1080	942	33	2	2865	2	ATAD5	17	29185216	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	3070507	29185216	52009994	142	87554											
LRRC37B	114659	broad.mit.edu	37	chr17	30374836	30374836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaagatgttacaagccCggaagcagcacatgagcact	14	7	10	10	1	1	3	1	2	0	1	1	4	1	4	1	1	5	4	1	1	4	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:30374836C>T	ENST00000327564.7	+	9	2441	c.2380C>T	c.(2380-2382)Cgg>Tgg	p.R794W	LRRC37B_ENST00000543378.2_Missense_Mutation_p.R685W|LRRC37B_ENST00000584368.1_Missense_Mutation_p.R728W|LRRC37B_ENST00000341671.7_Missense_Mutation_p.R767W|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R716W			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	767						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GTTACAAGCCCGGAAGCAGCA	0.493													10	191					0	0	0	0	T	30374836	C	T	30374836	3	4	445	1	0	0	0	0	1	0	0	0	9058	643	23	1	2333	1	LRRC37B	17	30374836	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	1189620	30374836	50820374	143	87555											
KRT14	3861	broad.mit.edu	37	chr17	39739591	39739591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctggttctgctgctccatCtcgcagcggagctgggccag	4	10	13	14	2	2	0	0	0	2	0	5	1	4	1	3	3	4	5	3	3	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:39739591C>T	ENST00000167586.6	-	6	1256	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	390	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCTGCTCCATCTCGCAGCGGA	0.637													15	69					0	0	0	0	T	39739591	C	T	39739591	2	4	445	1	0	0	0	0	0	0	0	1	8503	912	32	2		2	KRT14	17	39739591	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	9364755	39739591	41455619	144	87556			5	139		4	3	538	N	C	5.581446e-06
KRT14	3861	broad.mit.edu	37	chr17	39739910	39739910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgctgttggtggccacctCgcggttcagctcctctgtct	2	13	11	15	3	3	0	1	0	2	0	6	0	4	0	3	3	1	4	3	3	0	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:39739910C>T	ENST00000167586.6	-	5	1032	c.946G>A	c.(946-948)Gag>Aag	p.E316K		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	316	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTGGCCACCTCGCGGTTCAGC	0.587													24	177					0	0	0	0	T	39739910	C	T	39739910	3	4	445	1	0	0	0	0	1	0	0	0	8503	893	31	1	488	1	KRT14	17	39739910	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	319	39739910	41455300	145	87557			5	139		4	3	538	N	C	5.581446e-06
KRT14	3861	broad.mit.edu	37	chr17	39740126	39740126	+	Silent	SNP	C	C	T																															acgccaggtgcagcgtccatCtccacattgacatctccacc																										TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:39740126C>T	ENST00000167586.6	-	4	899	c.813G>A	c.(811-813)gaG>gaA	p.E271E		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	271	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CAGCGTCCATCTCCACATTGA	0.572													20	136					0	0	0	0	T	39740126	C	T	39740126	2	4	445	1	0	0	0	0	0	0	0	1	8503	912	32	2		2	KRT14	17	39740126	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	216	39740126	41455084	146	87558	1088	2	5	139		4	3	538	N	C	5.581446e-06
KRT14	3861	broad.mit.edu	37	chr17	39740128	39740128	+	Missense_Mutation	SNP	C	C	T																															gccaggtgcagcgtccatctCcacattgacatctccaccca																										TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:39740128C>T	ENST00000167586.6	-	4	897	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	271	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCGTCCATCTCCACATTGACA	0.577													22	139					0	0	0	0	T	39740128	C	T	39740128	3	4	445	1	0	0	0	0	1	0	0	0	8503	864	30	2	627	2	KRT14	17	39740128	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	2	39740128	41455082	147	87559	1088	2	5	139		4	3	538	N	C	5.581446e-06
MEOX1	4222	broad.mit.edu	37	chr17	41738457	41738457	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aactctcctttctccgcctgGatgatttcttctctgtctca	5	17	5	14	1	5	1	1	1	5	0	9	2	5	2	3	1	1	0	3	1	1	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:41738457G>C	ENST00000318579.4	-	1	865	c.446C>G	c.(445-447)tCc>tGc	p.S149C	MEOX1_ENST00000393661.2_Missense_Mutation_p.S34C|MEOX1_ENST00000329168.3_Missense_Mutation_p.S149C|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120A	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	149						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCGCCTGGATGATTTCTT	0.577													10	269					0	0	0	0	C	41738457	G	C	41738457	3	2	445	1	0	0	0	0	1	0	0	0	9542	1174	41	2	330	2	MEOX1	17	41738457	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	1998329	41738457	39456753	148	87560											
KIF19	124602	broad.mit.edu	37	chr17	72338069	72338069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgacatcctgcgggcgcatCgctcccgggagaagtcctac	8	6	12	15	5	0	1	0	0	0	1	4	3	3	1	3	2	2	2	3	2	2	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:72338069C>T	ENST00000389916.4	+	3	313	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	59	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			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						GCGGGCGCATCGCTCCCGGGA	0.667													25	165					0	0	0	0	T	72338069	C	T	72338069	3	4	445	1	0	0	0	0	1	0	0	0	8333	884	31	1	185	1	KIF19	17	72338069	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	30599612	72338069	8857141	149	87561											
SLC25A19	60386	broad.mit.edu	37	chr17	73273537	73273537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgacaccagctccaCtgccacaaagcaggttttgg	10	9	10	12	0	0	2	0	2	0	0	1	2	1	2	3	2	4	4	3	2	1	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:73273537C>T	ENST00000402418.3	-	5	1580	c.671G>A	c.(670-672)aGt>aAt	p.S224N	SLC25A19_ENST00000320362.3_Missense_Mutation_p.S224N|SLC25A19_ENST00000375261.4_Missense_Mutation_p.S167N|SLC25A19_ENST00000442286.2_Missense_Mutation_p.S224N|SLC25A19_ENST00000580994.1_Missense_Mutation_p.S224N|SLC25A19_ENST00000416858.2_Missense_Mutation_p.S224N			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	224						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ACCAGCTCCACTGCCACAAAG	0.517													22	48					0	0	0	0	T	73273537	C	T	73273537	3	4	445	1	0	0	0	0	1	0	0	0	14569	565	20	4	299	4	SLC25A19	17	73273537	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	935468	73273537	7921673	150	87562											
C17orf70	80233	broad.mit.edu	37	chr17	79516278	79516278	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagctcctttattttctGacctgcactctctgtggtca	6	15	7	13	0	3	1	1	1	2	0	5	1	4	1	2	1	3	3	2	1	1	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:79516278G>A	ENST00000537152.1	-	4	1429	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	C17orf70_ENST00000327787.8_Nonsense_Mutation_p.Q453*	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	453					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TTTATTTTCTGACCTGCACTC	0.607													4	51					0	0	0	0	A	79516278	G	A	79516278	4	1	445	1	0	0	0	0	0	1	0	0	1892	1299	45	2	1312	2	C17orf70	17	79516278	Nonsense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	6242741	79516278	1678932	151	87563											
ZNF750	79755	broad.mit.edu	37	chr17	80790229	80790229	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagatgtgacttctcattGcaagtaaagggacattggaa	16	10	10	5	0	1	2	1	1	1	1	2	4	1	4	0	2	1	2	0	2	6	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:80790229G>T	ENST00000269394.3	-	2	935	c.102C>A	c.(100-102)tgC>tgA	p.C34*	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	34						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTTCTCATTGCAAGTAAAGG	0.413													40	49					5.04308e-16	5.39657e-16	1	0	T	80790229	G	T	80790229	4	4	445	1	0	0	0	0	0	1	0	0	18226	1311	46	4	2077	4	ZNF750	17	80790229	Nonsense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	1273951	80790229	404981	152	87564											
EPB41L3	23136	broad.mit.edu	37	chr18	5395094	5395094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaatgtctgcatcccccGtgatgactattcgcttctca	7	13	8	13	2	3	2	2	2	2	0	6	2	4	2	2	1	1	2	2	1	2	3	rs147930423		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:5395094G>A	ENST00000341928.2	-	21	3465	c.3125C>T	c.(3124-3126)aCg>aTg	p.T1042M	EPB41L3_ENST00000544123.1_Missense_Mutation_p.T873M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T820M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T820M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T1042M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T347M|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T339M	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1042	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			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						TGCATCCCCCGTGATGACTAT	0.448													5	86					0	0	0	0	A	5395094	G	A	5395094	3	1	445	1	0	0	0	0	1	0	0	0	5192	1145	40	1	146	1	EPB41L3	18	5395094	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		5395094	72682154	153	87565											
LAMA3	3909	broad.mit.edu	37	chr18	21461945	21461945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcactgtgaacgctgccagGagggctactatggcaacgcc	10	6	13	12	2	0	1	0	1	0	0	0	2	0	2	2	3	5	4	2	3	4	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:21461945G>A	ENST00000313654.9	+	40	5399	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	LAMA3_ENST00000269217.6_Missense_Mutation_p.E111K|LAMA3_ENST00000399516.3_Missense_Mutation_p.E1720K|LAMA3_ENST00000587184.1_Missense_Mutation_p.E111K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1720	Domain III A.|Laminin EGF-like 13.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGCTGCCAGGAGGGCTACTA	0.572													15	53					0	0	0	0	A	21461945	G	A	21461945	3	1	445	1	0	0	0	0	1	0	0	0	8660	1175	41	2	5491	2	LAMA3	18	21461945	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	16066851	21461945	56615303	154	87566											
RTTN	25914	broad.mit.edu	37	chr18	67813011	67813011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaaaagctttaatgctagcGaacggaccctgagaacacaa	16	7	8	10	2	0	1	0	1	0	1	0	4	0	2	1	1	5	2	1	1	7	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67813011G>A	ENST00000255674.6	-	18	2604	c.2318C>T	c.(2317-2319)tCg>tTg	p.S773L	RTTN_ENST00000454359.1_Missense_Mutation_p.S773L|RTTN_ENST00000437017.1_Missense_Mutation_p.S773L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	773							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TAATGCTAGCGAACGGACCCT	0.383													18	88					0	0	0	0	A	67813011	G	A	67813011	3	1	445	1	0	0	0	0	1	0	0	0	13822	1059	37	1	4490	1	RTTN	18	67813011	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	46351066	67813011	10264237	155	87567											
SOCS6	9306	broad.mit.edu	37	chr18	67991962	67991962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaacttgaataaaagtaaaGaagaaactgatttcatggta	19	12	7	3	0	1	4	1	2	0	2	1	4	1	4	0	1	2	2	0	1	9	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67991962G>C	ENST00000397942.3	+	2	374	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	SOCS6_ENST00000582322.1_Missense_Mutation_p.E20Q	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	20					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TAAAAGTAAAGAAGAAACTGA	0.343													7	53					0	0	0	0	C	67991962	G	C	67991962	3	2	445	1	0	0	0	0	1	0	0	0	15006	943	33	2	60	2	SOCS6	18	67991962	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	178951	67991962	10085286	156	87568			6	140		6	6	1203	N	G	1.941024e-13
SOCS6	9306	broad.mit.edu	37	chr18	67992019	67992019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagccagtgactttggaaaaGatgattccttatttggtagc	11	14	10	6	0	0	3	0	2	0	1	1	4	1	4	2	2	2	1	2	2	5	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67992019G>C	ENST00000397942.3	+	2	431	c.115G>C	c.(115-117)Gat>Cat	p.D39H	SOCS6_ENST00000582322.1_Missense_Mutation_p.D39H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	39					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CTTTGGAAAAGATGATTCCTT	0.373													13	76					0	0	0	0	C	67992019	G	C	67992019	3	2	445	1	0	0	0	0	1	0	0	0	15006	942	33	2	117	2	SOCS6	18	67992019	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	57	67992019	10085229	157	87569			6	140		6	6	1203	N	G	1.941024e-13
SOCS6	9306	broad.mit.edu	37	chr18	67992094	67992094	+	Frame_Shift_Del	DEL	G	G	-																															acggtgaagatgaaaaaggcGgaaaaaacagatcaaaaagc																										TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67992094delG	ENST00000397942.3	+	2	506	c.190delG	c.(190-192)gafs	p.G64fs	SOCS6_ENST00000582322.1_Frame_Shift_Del_p.G64fs	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	64					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGAAAAAGGCGGAAAAAACAG	0.468													18	82	---	---	---	---					-	67992094	G	-	67992094	7	5	445	1	0	1	0	1	0	0	0	0	15006	1117	39	0	192	0	SOCS6	18	67992094	Frame_Shift_Del	DEL	G	TCGA-KU-A6H7-01A-11D-A31L-08	75	67992094	10085154	158	87570			6	140		6	6	1203	N	G	1.941024e-13
SOCS6	9306	broad.mit.edu	37	chr18	67992151	67992151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctaaaaaggcggctttctGcaaaacagaagtcaaaaggc	16	6	10	9	2	2	1	1	0	1	1	2	1	2	1	0	3	2	3	0	3	8	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67992151G>T	ENST00000397942.3	+	2	563	c.247G>T	c.(247-249)Gca>Tca	p.A83S	SOCS6_ENST00000582322.1_Missense_Mutation_p.A83S	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	83					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCGGCTTTCTGCAAAACAGAA	0.507													18	111					3.5997e-14	3.8341e-14	1	0	T	67992151	G	T	67992151	3	4	445	1	0	0	0	0	1	0	0	0	15006	1319	46	4	249	4	SOCS6	18	67992151	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	57	67992151	10085097	159	87571			6	140		6	6	1203	N	G	1.941024e-13
SOCS6	9306	broad.mit.edu	37	chr18	67992445	67992445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccacgacctccagtctGagaccacgtgccaggagcaa	11	7	9	14	2	1	1	0	1	1	1	3	4	3	2	5	1	2	1	5	1	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67992445G>C	ENST00000397942.3	+	2	857	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	SOCS6_ENST00000582322.1_Missense_Mutation_p.E181Q	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	181					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCTCCAGTCTGAGACCACGTG	0.542													22	65					0	0	0	0	C	67992445	G	C	67992445	3	2	445	1	0	0	0	0	1	0	0	0	15006	1291	45	2	543	2	SOCS6	18	67992445	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	294	67992445	10084803	160	87572			6	140		6	6	1203	N	G	1.941024e-13
SOCS6	9306	broad.mit.edu	37	chr18	67993164	67993164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgttaccttttaagcttGagctttcgctcccatggtaa	8	14	8	11	2	0	1	0	1	0	0	2	2	1	1	3	1	3	5	3	1	3	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67993164G>A	ENST00000397942.3	+	2	1576	c.1260G>A	c.(1258-1260)ttG>ttA	p.L420L	SOCS6_ENST00000582322.1_Silent_p.L420L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	420	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTTTAAGCTTGAGCTTTCGCT	0.463													17	71					0	0	0	0	A	67993164	G	A	67993164	2	1	445	1	0	0	0	0	0	0	0	1	15006	1281	45	2		2	SOCS6	18	67993164	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	719	67993164	10084084	161	87573			6	140		6	6	1203	N	G	1.941024e-13
HMG20B	10362	broad.mit.edu	37	chr19	3578065	3578065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcgaccccgcccagcacGagaagctcatcgtccgcatc	9	4	10	18	6	1	1	1	0	0	1	4	3	2	1	4	0	3	3	4	0	1	0			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:3578065G>A	ENST00000333651.6	+	9	970	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	299					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCAGCACGAGAAGCTCAT	0.706													5	31					0	0	0	0	A	3578065	G	A	3578065	3	1	445	1	0	0	0	0	1	0	0	0	7272	1059	37	1	925	1	HMG20B	19	3578065	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		3578065	55550918	162	87574											
CAPS	828	broad.mit.edu	37	chr19	5914728	5914728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcagcgggacgctggatctgGaggagttccttcgggcgctg	5	8	18	10	4	1	0	0	0	1	0	3	4	2	4	1	5	1	4	1	5	0	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:5914728G>C	ENST00000588776.1	+	3	2863	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	CAPS_ENST00000452990.2_Missense_Mutation_p.E80Q|CAPS_ENST00000222125.5_Missense_Mutation_p.E80Q			Q13938	CAYP1_HUMAN	calcyphosine	80	EF-hand 4.				intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						GCTGGATCTGGAGGAGTTCCT	0.677													4	127					0	0	0	0	C	5914728	G	C	5914728	3	2	445	1	0	0	0	0	1	0	0	0	2662	1175	41	2	244	2	CAPS	19	5914728	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	2336663	5914728	53214255	163	87575											
CYP4F3	4051	broad.mit.edu	37	chr19	15769314	15769314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacaggcattatctgcctCatcagtgtttttggaaccca	9	12	7	13	0	3	0	2	0	1	0	3	1	3	1	3	2	2	2	3	2	2	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:15769314C>T	ENST00000221307.7	+	11	1311	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	CYP4F3_ENST00000585846.1_Silent_p.L421L|CYP4F3_ENST00000586182.1_Silent_p.L421L|CYP4F3_ENST00000591058.1_Silent_p.L421L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	421					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTATCTGCCTCATCAGTGTTT	0.612													8	265					0	0	0	0	T	15769314	C	T	15769314	2	4	445	1	0	0	0	0	0	0	0	1	4222	813	29	2		2	CYP4F3	19	15769314	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	9854586	15769314	43359669	164	87576											
MED29	55588	broad.mit.edu	37	chr19	39883109	39883109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgttttgactagaccttGatgaaggttgcggcccaaaa	10	14	10	7	1	0	4	0	3	0	1	0	4	0	4	2	2	1	2	2	2	4	7			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:39883109G>C	ENST00000315588.5	+	2	334	c.285G>C	c.(283-285)ttG>ttC	p.L95F	MED29_ENST00000594368.1_Missense_Mutation_p.L74F|MED29_ENST00000599213.2_Missense_Mutation_p.L74F	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-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;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACTAGACCTTGATGAAGGTTG	0.433													6	32					0	0	0	0	C	39883109	G	C	39883109	3	2	445	1	0	0	0	0	1	0	0	0	9516	1281	45	2	291	2	MED29	19	39883109	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	24113795	39883109	19245874	165	87577											
ZNF546	339327	broad.mit.edu	37	chr19	40521147	40521147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatctcacgcaacatcacaGaattcatactggtgagaaac	15	9	6	11	1	4	2	4	1	1	2	5	3	4	2	0	1	3	1	0	1	4	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:40521147G>C	ENST00000347077.4	+	7	2186	c.1970G>C	c.(1969-1971)aGa>aCa	p.R657T	ZNF546_ENST00000600094.1_Missense_Mutation_p.R631T|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R657I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAACATCACAGAATTCATACT	0.433													4	39					0	0	0	0	C	40521147	G	C	40521147	3	2	445	1	0	0	0	0	1	0	0	0	18073	942	33	2	1988	2	ZNF546	19	40521147	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	638038	40521147	18607836	166	87578											
B3GNT8	374907	broad.mit.edu	37	chr19	41931603	41931603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtggtccgcagtgcggtCtgctggccaggctgtgagga	6	8	17	10	2	1	1	0	1	1	0	2	2	2	2	2	5	2	3	2	5	0	0			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:41931603C>T	ENST00000321702.2	-	3	1534	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	CTC-435M10.6_ENST00000598887.1_RNA	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	361					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						GCAGTGCGGTCTGCTGGCCAG	0.657													14	68					0	0	0	0	T	41931603	C	T	41931603	3	4	445	1	0	0	0	0	1	0	0	0	1267	913	32	2	116	2	B3GNT8	19	41931603	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	1410456	41931603	17197380	167	87579											
CIC	23152	broad.mit.edu	37	chr19	42794548	42794548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctcgcctgcttcctcctCagcctcggcagccacctcct	3	10	7	21	2	1	0	1	0	0	0	7	0	5	0	8	1	3	2	8	1	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:42794548C>T	ENST00000572681.2	+	11	4423	c.4355C>T	c.(4354-4356)tCa>tTa	p.S1452L	CIC_ENST00000575354.2_Missense_Mutation_p.S543L|CIC_ENST00000160740.3_Missense_Mutation_p.S543L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTTCCTCCTCAGCCTCGGCA	0.677			"Mis, F, S"		oligodendroglioma								30	87					0	0	0	0	T	42794548	C	T	42794548	3	4	445	1	0	0	0	0	1	0	0	0	3453	838	29	2	1666	2	CIC	19	42794548	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	862945	42794548	16334435	168	87580											
SYMPK	8189	broad.mit.edu	37	chr19	46331129	46331129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttgcggaccacctccaggGcactctctgtgatgagtggc	7	9	12	13	1	1	2	0	2	1	0	3	3	2	3	3	3	1	1	3	3	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:46331129G>A	ENST00000245934.7	-	15	2277	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	678					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.A678V(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)		CACCTCCAGGGCACTCTCTGT	0.652													4	190					0	0	0	0	A	46331129	G	A	46331129	3	1	445	1	0	0	0	0	1	0	0	0	15530	1203	42	4	1843	4	SYMPK	19	46331129	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	3536581	46331129	12797854	169	87581											
PRKD2	25865	broad.mit.edu	37	chr19	47204144	47204144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggatgacaccggagtcctCtgactcatccatgagggcgc	9	7	13	12	2	2	3	1	3	1	0	4	5	4	5	3	3	0	0	3	3	0	0			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:47204144C>G	ENST00000433867.1	-	8	1510	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	PRKD2_ENST00000595515.1_Missense_Mutation_p.E345Q|PRKD2_ENST00000601806.1_Missense_Mutation_p.E188Q|PRKD2_ENST00000600194.1_Missense_Mutation_p.E188Q|PRKD2_ENST00000291281.4_Missense_Mutation_p.E345Q	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	345					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCGGAGTCCTCTGACTCATCC	0.617													9	48					0	0	0	0	G	47204144	C	G	47204144	3	3	445	1	0	0	0	0	1	0	0	0	12599	922	32	2	1651	2	PRKD2	19	47204144	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	873015	47204144	11924839	170	87582											
ARHGAP35	2909	broad.mit.edu	37	chr19	47425031	47425031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaattttgagagtaaactGaacaacaaagtacctccgcc	16	8	7	10	1	0	2	0	2	0	1	1	3	1	2	3	0	5	3	3	0	7	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:47425031G>A	ENST00000404338.3	+	1	3099	c.3099G>A	c.(3097-3099)ctG>ctA	p.L1033L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1033					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGAGTAAACTGAACAACAAAG	0.433													10	51					0	0	0	0	A	47425031	G	A	47425031	2	1	445	1	0	0	0	0	0	0	0	1	6845	1277	45	2		2	ARHGAP35	19	47425031	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	220887	47425031	11703952	171	87583											
ZNF416	55659	broad.mit.edu	37	chr19	58084885	58084885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaccgcacatgccccagtCaagtatagttcctgcccagg	11	7	9	14	1	1	1	1	0	0	1	2	1	2	1	5	1	2	3	5	1	4	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:58084885C>G	ENST00000196489.3	-	4	609	c.387G>C	c.(385-387)ttG>ttC	p.L129F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ATGCCCCAGTCAAGTATAGTT	0.517													3	28					0	0	0	0	G	58084885	C	G	58084885	3	3	445	1	0	0	0	0	1	0	0	0	17988	825	29	2	1401	2	ZNF416	19	58084885	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	10659854	58084885	1044098	172	87584											
ITPA	3704	broad.mit.edu	37	chr20	3199199	3199199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgggttcgaggacaagtCagcctatgcgctctgcacgt	7	8	14	12	4	2	0	1	0	1	0	3	2	2	1	2	3	3	3	2	3	2	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:3199199C>T	ENST00000380113.3	+	6	524	c.332C>T	c.(331-333)tCa>tTa	p.S111L	ITPA_ENST00000455664.1_Missense_Mutation_p.S94L|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Missense_Mutation_p.S70L	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	111					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GAGGACAAGTCAGCCTATGCG	0.652											OREG0025730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	60					0	0	0	0	T	3199199	C	T	3199199	3	4	445	1	0	0	0	0	1	0	0	0	7968	838	29	2	354	2	ITPA	20	3199199	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		3199199	59826321	173	87585											
PAK7	57144	broad.mit.edu	37	chr20	9546591	9546591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccggaggtccattttcttCactgcaacttgtttccctgt	5	17	7	12	1	2	0	1	0	1	0	5	1	5	1	3	2	2	2	3	2	1	6			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:9546591C>T	ENST00000378429.3	-	6	1977	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	PAK7_ENST00000378423.1_Silent_p.V477V|PAK7_ENST00000353224.5_Silent_p.V477V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	477	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCATTTTCTTCACTGCAACTT	0.458													50	127					0	0	0	0	T	9546591	C	T	9546591	2	4	445	1	0	0	0	0	0	0	0	1	11476	813	29	2		2	PAK7	20	9546591	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	6347392	9546591	53478929	174	87586											
KIF16B	55614	broad.mit.edu	37	chr20	16347835	16347835	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagccaaagagcctcatcttGagaattgaaagtaagtttcc	14	11	8	8	0	2	3	1	2	1	2	3	4	3	3	3	0	2	2	3	0	5	5			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:16347835G>A	ENST00000408042.1	-	23	4292	c.4135C>T	c.(4135-4137)Caa>Taa	p.Q1379*	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCCTCATCTTGAGAATTGAAA	0.408													7	39					0	0	0	0	A	16347835	G	A	16347835	4	1	445	1	0	0	0	0	0	1	0	0	8329	1305	45	2		2	KIF16B	20	16347835	Nonsense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	6801244	16347835	46677685	175	87587											
PPP1R16B	26051	broad.mit.edu	37	chr20	37534656	37534656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacctgcgggcagctgagctCctcctggaccatggagtgcg	6	8	14	13	2	0	1	0	1	0	0	2	3	2	3	4	3	5	3	4	3	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:37534656C>T	ENST00000299824.1	+	7	930	c.741C>T	c.(739-741)ctC>ctT	p.L247L	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	247					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCTGAGCTCCTCCTGGACC	0.597													25	41					0	0	0	0	T	37534656	C	T	37534656	2	4	445	1	0	0	0	0	0	0	0	1	12442	842	30	2		2	PPP1R16B	20	37534656	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	21186821	37534656	25490864	176	87588											
PHACTR3	116154	broad.mit.edu	37	chr20	58318283	58318283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atcttcaaaccctggaaatgGaggaaaaagaaaaacgaaaa	22	5	8	6	1	2	1	1	0	1	1	2	5	2	4	1	3	2	0	1	3	8	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:58318283G>C	ENST00000371015.1	+	2	707	c.240G>C	c.(238-240)tgG>tgC	p.W80C	PHACTR3_ENST00000395639.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.W77C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.W39C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.W39C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.W39C	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	80						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCTGGAAATGGAGGAAAAAGA	0.562													8	59					0	0	0	0	C	58318283	G	C	58318283	3	2	445	1	0	0	0	0	1	0	0	0	11883	1183	41	2	246	2	PHACTR3	20	58318283	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	20783627	58318283	4707237	177	87589											
DIDO1	11083	broad.mit.edu	37	chr20	61511322	61511322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttttcagaaaagggtgCggacccccgtagtccaccaa	11	10	9	11	2	1	1	1	0	0	1	2	2	2	2	4	2	1	1	4	2	4	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:61511322C>T	ENST00000266070.4	-	16	6311	c.5986G>A	c.(5986-5988)Gca>Aca	p.A1996T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1996	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAAAGGGTGCGGACCCCCGT	0.597													4	144					0	0	0	0	T	61511322	C	T	61511322	3	4	445	1	0	0	0	0	1	0	0	0	4559	768	27	1	740	1	DIDO1	20	61511322	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	3193039	61511322	1514198	178	87590											
SIM2	6493	broad.mit.edu	37	chr21	38114091	38114091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcggctgggtgtgggtgcaGagctacgccaccgtggtgca	5	7	19	10	3	0	1	0	0	0	1	0	1	0	1	2	5	4	4	2	5	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr21:38114091G>C	ENST00000290399.6	+	8	1537	c.924G>C	c.(922-924)caG>caC	p.Q308H	SIM2_ENST00000430056.3_Missense_Mutation_p.Q308H	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	308	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGTGGGTGCAGAGCTACGCCA	0.582													6	14					0	0	0	0	C	38114091	G	C	38114091	3	2	445	1	0	0	0	0	1	0	0	0	14412	933	33	2	954	2	SIM2	21	38114091	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08		38114091	10015804	179	87591											
PFKL	5211	broad.mit.edu	37	chr21	45732997	45732997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaccgcatcatggaggtCatcgatgccatcaccaccac	10	7	7	17	2	3	0	3	0	0	0	5	2	4	1	5	2	1	1	5	2	0	0			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr21:45732997C>T	ENST00000403390.1	+	6	705	c.705C>T	c.(703-705)gtC>gtT	p.V235V	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Silent_p.V188V			P17858	K6PL_HUMAN	phosphofructokinase, liver	188					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCATGGAGGTCATCGATGCCA	0.667													22	104					0	0	0	0	T	45732997	C	T	45732997	2	4	445	1	0	0	0	0	0	0	0	1	11836	813	29	2		2	PFKL	21	45732997	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	7618906	45732997	2396898	180	87592											
CDC45	8318	broad.mit.edu	37	chr22	19470230	19470230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtttcattattttattctCataaactgtggagctaatgt	11	18	6	6	0	2	0	2	0	1	0	3	1	2	1	0	1	2	2	0	1	5	7			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:19470230C>T	ENST00000407835.1	+	5	478	c.222C>T	c.(220-222)ctC>ctT	p.L74L	CDC45_ENST00000404724.3_Intron|CDC45_ENST00000263201.1_Silent_p.L74L|CDC45_ENST00000437685.2_Silent_p.L74L|CDC45_ENST00000483431.1_3'UTR			O75419	CDC45_HUMAN	cell division cycle 45	74					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATTTTATTCTCATAAACTGTG	0.383													4	81					0	0	0	0	T	19470230	C	T	19470230	2	4	445	1	0	0	0	0	0	0	0	1	3110	813	29	2		2	CDC45	22	19470230	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08		19470230	31834336	181	87593											
ZNF74	7625	broad.mit.edu	37	chr22	20749634	20749634	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcgccagctctttcctctCaggatcctgctctttccctg	3	15	6	17	1	3	0	1	0	3	0	8	1	6	1	4	1	2	2	4	1	0	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:20749634C>T	ENST00000400451.2	+	2	560	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	ZNF74_ENST00000357502.5_Missense_Mutation_p.S21L|ZNF74_ENST00000356671.5_Nonsense_Mutation_p.Q16*|ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000405993.1_Nonsense_Mutation_p.Q16*	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	16					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCTTTCCTCTCAGGATCCTGC	0.532													30	104					0	0	0	0	T	20749634	C	T	20749634	4	4	445	1	0	0	0	0	0	1	0	0	18221	827	29	2	52	2	ZNF74	22	20749634	Nonsense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	1279404	20749634	30554932	182	87594											
HMGXB4	10042	broad.mit.edu	37	chr22	35684359	35684359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatcttcagctgttgggaGagtccctaagcctcattgga	8	12	10	11	0	4	1	3	0	1	1	5	3	5	2	2	2	2	2	2	2	1	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:35684359G>C	ENST00000216106.5	+	9	1725	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E424Q	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	533					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTTGGGAGAGTCCCTAAG	0.493													14	44					0	0	0	0	C	35684359	G	C	35684359	3	2	445	1	0	0	0	0	1	0	0	0	7289	943	33	2	1627	2	HMGXB4	22	35684359	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	14934725	35684359	15620207	183	87595											
HMGXB4	10042	broad.mit.edu	37	chr22	35684398	35684398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaccgtctgcaggaaactGaggtgaatacaactatcagc	14	7	10	10	1	2	2	1	2	1	0	2	4	2	3	1	2	5	1	1	2	5	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:35684398G>C	ENST00000216106.5	+	9	1764	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E437Q	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	546					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGGAAACTGAGGTGAATAC	0.438													8	30					0	0	0	0	C	35684398	G	C	35684398	3	2	445	1	0	0	0	0	1	0	0	0	7289	1291	45	2	1666	2	HMGXB4	22	35684398	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	39	35684398	15620168	184	87596											
NHP2L1	4809	broad.mit.edu	37	chr22	42071006	42071006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagctgcgagccttctttGatggtgacagaacaggcgat	9	11	12	9	2	2	3	1	2	1	1	2	5	2	3	1	2	4	1	1	2	1	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:42071006G>C	ENST00000401959.1	-	4	634	c.318C>G	c.(316-318)atC>atG	p.I106M	NHP2L1_ENST00000215956.5_Missense_Mutation_p.I106M|NHP2L1_ENST00000355257.3_Missense_Mutation_p.I106M|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.I110M	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	106					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						AGCCTTCTTTGATGGTGACAG	0.557													7	83					0	0	0	0	C	42071006	G	C	42071006	3	2	445	1	0	0	0	0	1	0	0	0	10480	1280	45	2	72	2	NHP2L1	22	42071006	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	6386608	42071006	9233560	185	87597											
PKDREJ	10343	broad.mit.edu	37	chr22	46658465	46658465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactgggcgatggcgcgcGcggccgggcagtccagctgc	5	5	18	13	6	0	0	0	0	0	0	1	1	1	0	2	4	3	3	2	4	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:46658465G>A	ENST00000253255.5	-	1	754	c.755C>T	c.(754-756)gCg>gTg	p.A252V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	252	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GATGGCGCGCGCGGCCGGGCA	0.706													9	49					0	0	0	0	A	46658465	G	A	46658465	3	1	445	1	0	0	0	0	1	0	0	0	12042	1087	38	1	6010	1	PKDREJ	22	46658465	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	4587459	46658465	4646101	186	87598											
PKDREJ	10343	broad.mit.edu	37	chr22	46658489	46658489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggcagtccagctgcaccGaggcgttgatggtggcctcc	5	7	15	14	3	0	1	0	1	0	0	2	2	2	1	5	4	2	4	5	4	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:46658489G>A	ENST00000253255.5	-	1	730	c.731C>T	c.(730-732)tCg>tTg	p.S244L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	244	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAGCTGCACCGAGGCGTTGAT	0.697													8	39					0	0	0	0	A	46658489	G	A	46658489	3	1	445	1	0	0	0	0	1	0	0	0	12042	1059	37	1	6034	1	PKDREJ	22	46658489	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	24	46658489	4646077	187	87599											
RAI2	10742	broad.mit.edu	37	chrX	17818621	17818621	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagttcactttctttaactTtatgctccggtttttgatgg	6	19	9	7	1	2	1	1	1	1	0	3	2	3	2	1	3	2	3	1	3	2	8			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:17818621T>G	ENST00000545871.1	-	3	1970	c.1510A>C	c.(1510-1512)Aag>Cag	p.K504Q	RAI2_ENST00000451717.1_Missense_Mutation_p.K504Q|RAI2_ENST00000415486.3_Missense_Mutation_p.K454Q|RAI2_ENST00000360011.1_Missense_Mutation_p.K504Q|RAI2_ENST00000331511.1_Missense_Mutation_p.K504Q	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	504					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TTCTTTAACTTTATGCTCCGG	0.438													132	359					0	0	0	0	G	17818621	T	G	17818621	3	3	445	1	0	0	0	0	1	0	0	0	13091	1850	64	5	86	5	RAI2	23	17818621	Missense_Mutation	SNP	T	TCGA-KU-A6H7-01A-11D-A31L-08		17818621	137451939	188	87600											
NLGN3	54413	broad.mit.edu	37	chrX	70387117	70387117	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgatgaccctgagatcctCatggagcagggcgagttcct	8	9	12	12	1	1	3	1	3	0	1	3	6	3	4	4	2	1	2	4	2	0	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:70387117C>G	ENST00000374051.3	+	6	1432	c.1110C>G	c.(1108-1110)ctC>ctG	p.L370L	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.L390L|NLGN3_ENST00000536169.1_Silent_p.L350L	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	390					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CTGAGATCCTCATGGAGCAGG	0.567													14	52					0	0	0	0	G	70387117	C	G	70387117	2	3	445	1	0	0	0	0	0	0	0	1	10533	813	29	2		2	NLGN3	23	70387117	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	52568496	70387117	84883443	189	87601											
MORC4	79710	broad.mit.edu	37	chrX	106229364	106229364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgcatggagcctgacttGaaaccattaccaaagacccc	13	6	8	14	1	0	3	0	2	0	1	0	4	0	4	6	1	4	1	6	1	3	2			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:106229364G>A	ENST00000355610.4	-	4	649	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MORC4_ENST00000255495.7_Silent_p.F125F|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	125							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AGCCTGACTTGAAACCATTAC	0.433													37	164					0	0	0	0	A	106229364	G	A	106229364	2	1	445	1	0	0	0	0	0	0	0	1	9774	1281	45	2		2	MORC4	23	106229364	Silent	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	35842247	106229364	49041196	190	87602											
LUZP4	51213	broad.mit.edu	37	chrX	114537943	114537943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaccttctggattcaagtCtggacaacaccctttaaatg	14	11	6	10	0	3	0	1	0	2	0	3	2	3	2	2	2	2	0	2	2	6	4			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:114537943C>T	ENST00000371920.3	+	3	309	c.302C>T	c.(301-303)tCt>tTt	p.S101F	LUZP4_ENST00000451986.2_Intron	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	101						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GGATTCAAGTCTGGACAACAC	0.333													33	124					0	0	0	0	T	114537943	C	T	114537943	3	4	445	1	0	0	0	0	1	0	0	0	9152	913	32	2	312	2	LUZP4	23	114537943	Missense_Mutation	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	8308579	114537943	40732617	191	87603											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298763	125298763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggccctctcctccaggAacttctgggcgcggatgtca	8	8	12	13	2	3	1	1	0	2	1	5	3	4	3	3	4	1	0	3	4	2	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:125298763A>G	ENST00000538699.1	-	2	1225	c.1145T>C	c.(1144-1146)tTc>tCc	p.F382S	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.F382S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	382										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCCTCCAGGAACTTCTGGGC	0.632													5	140					0	0	0	0	G	125298763	A	G	125298763	3	3	445	1	0	0	0	0	1	0	0	0	4298	246	9	5	250	5	DCAF12L2	23	125298763	Missense_Mutation	SNP	A	TCGA-KU-A6H7-01A-11D-A31L-08	10760820	125298763	29971797	192	87604											
ATP2B3	492	broad.mit.edu	37	chrX	152815068	152815068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaccaaccgtatgacCgtggtccagtcctacctagg	9	8	8	16	2	1	1	1	1	0	0	3	1	3	1	7	2	2	1	7	2	4	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:152815068C>T	ENST00000370186.1	+	9	1736	c.1410C>T	c.(1408-1410)acC>acT	p.T470T	ATP2B3_ENST00000359149.3_Silent_p.T484T|ATP2B3_ENST00000349466.2_Silent_p.T484T|ATP2B3_ENST00000263519.4_Silent_p.T484T|ATP2B3_ENST00000393842.1_Silent_p.T470T|ATP2B3_ENST00000370181.2_Silent_p.T470T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	484					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCGTATGACCGTGGTCCAGT	0.612													39	119					0	0	0	0	T	152815068	C	T	152815068	2	4	445	1	0	0	0	0	0	0	0	1	1145	639	23	1		1	ATP2B3	23	152815068	Silent	SNP	C	TCGA-KU-A6H7-01A-11D-A31L-08	27516305	152815068	2455492	193	87605											
IRAK1	3654	broad.mit.edu	37	chrX	153283528	153283528	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcagtagaagccgttctGagcacagtagccagcaaagt	13	6	12	10	1	1	2	0	1	1	1	1	2	1	2	2	1	4	6	2	1	4	3			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:153283528G>A	ENST00000369980.3	-	7	1005	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	IRAK1_ENST00000369974.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000393687.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000429936.2_Nonsense_Mutation_p.Q306*	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	280	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	p.Q280*(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCGTTCTGAGCACAGTAG	0.602													12	80					0	0	0	0	A	153283528	G	A	153283528	4	1	445	1	0	0	0	0	0	1	0	0	7874	1299	45	2	1332	2	IRAK1	23	153283528	Nonsense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	468460	153283528	1987032	194	87606											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631068	153631068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggcagcagggcacagctGaggggacaggagtgatagca	12	4	17	8	0	1	2	1	2	0	0	1	4	1	4	0	5	3	5	0	5	1	1			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:153631068G>C	ENST00000369809.1	-	10	1518	c.889C>G	c.(889-891)Cag>Gag	p.Q297E	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.Q297E	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	297					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCACAGCTGAGGGGACAGG	0.652													6	34					0	0	0	0	C	153631068	G	C	153631068	3	2	445	1	0	0	0	0	1	0	0	0	4697	1299	45	2	23	2	DNASE1L1	23	153631068	Missense_Mutation	SNP	G	TCGA-KU-A6H7-01A-11D-A31L-08	347540	153631068	1639492	195	87607											
SPEN	23013	broad.mit.edu	37	chr1	16257187	16257187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagataaagaaaaggttgaCtctgctccaagacctattcc	16	9	7	9	0	1	4	0	1	1	3	3	4	3	4	3	1	1	2	3	1	7	4			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:16257187C>A	ENST00000375759.3	+	11	4656	c.4452C>A	c.(4450-4452)gaC>gaA	p.D1484E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1484					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAAGGTTGACTCTGCTCCAA	0.373													9	80					3.86212e-05	4.20542e-05	1	0	A	16257187	C	A	16257187	3	1	446	1	0	0	0	0	1	0	0	0	15128	564	20	4	4494	4	SPEN	1	16257187	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08		16257187	232993434	1	87608											
SLC16A4	9122	broad.mit.edu	37	chr1	110931878	110931878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggaaaaaatgaatcacaAtcatccatccccatcctcca	16	7	3	15	0	2	1	2	1	0	0	6	2	6	2	6	1	0	0	6	1	5	0			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:110931878A>G	ENST00000369779.4	-	2	317	c.68T>C	c.(67-69)aTt>aCt	p.I23T	SLC16A4_ENST00000541986.1_Silent_p.D5D|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000437429.2_Silent_p.D5D|SLC16A4_ENST00000472422.2_Missense_Mutation_p.I23T|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I23T	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	23						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATGAATCACAATCATCCATCC	0.448													26	140					0	0	0	0	G	110931878	A	G	110931878	3	3	446	1	0	0	0	0	1	0	0	0	14498	101	4	5	1427	5	SLC16A4	1	110931878	Missense_Mutation	SNP	A	TCGA-KU-A6H8-01A-21D-A34J-08	94674691	110931878	138318743	2	87609											
CD1E	913	broad.mit.edu	37	chr1	158326628	158326628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctgcttggcacaagtatCgtggatcaaaaacagagtat	13	11	10	7	1	2	1	1	0	1	1	3	2	2	2	0	2	2	5	0	2	5	4			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:158326628C>T	ENST00000444681.2	+	5	1105	c.812C>T	c.(811-813)tCg>tTg	p.S271L	CD1E_ENST00000368155.3_Missense_Mutation_p.S213L|CD1E_ENST00000368160.3_Missense_Mutation_p.S358L|CD1E_ENST00000368156.1_Missense_Mutation_p.S268L|CD1E_ENST00000368154.1_Missense_Mutation_p.S126L|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.S303L|CD1E_ENST00000368157.1_Missense_Mutation_p.S114L|CD1E_ENST00000368167.3_Missense_Mutation_p.S370L|CD1E_ENST00000368165.3_Missense_Mutation_p.S280L|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.S181L|CD1E_ENST00000368166.3_Missense_Mutation_p.S169L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	370	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCACAAGTATCGTGGATCAAA	0.438													10	112					0	0	0	0	T	158326628	C	T	158326628	3	4	446	1	0	0	0	0	1	0	0	0	3007	893	31	1	1131	1	CD1E	1	158326628	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	47394750	158326628	90923993	3	87610											
TTN	7273	broad.mit.edu	37	chr2	179453918	179453918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccagccgtgttagttgccGtaactacatatttaccccca	9	12	7	13	2	0	0	0	0	0	0	0	0	0	0	5	0	6	3	5	0	5	7			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr2:179453918G>A	ENST00000589042.1	-	304	62758	c.62534C>T	c.(62533-62535)aCg>aTg	p.T20845M	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T19204M|TTN_ENST00000460472.2_Missense_Mutation_p.T11780M|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11905M|TTN_ENST00000342992.6_Missense_Mutation_p.T18277M|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11972M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19204	Fibronectin type-III 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAGTTGCCGTAACTACATA	0.413													14	102					0	0	0	0	A	179453918	G	A	179453918	3	1	446	1	0	0	0	0	1	0	0	0	16831	1145	40	1	45681	1	TTN	2	179453918	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08		179453918	63745455	4	87611											
SAG	6295	broad.mit.edu	37	chr2	234243614	234243614	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcttcctctagagaaaaAgtgccaccaaacagcacttt	13	11	5	12	0	3	1	0	0	3	1	4	2	4	1	3	0	3	1	3	0	4	4			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr2:234243614A>G	ENST00000409110.1	+	11	1043	c.813A>G	c.(811-813)aaA>aaG	p.K271K	SAG_ENST00000449594.2_Silent_p.K137K	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	271					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CTAGAGAAAAAGTGCCACCAA	0.488													16	95					0	0	0	0	G	234243614	A	G	234243614	2	3	446	1	0	0	0	0	0	0	0	1	13893	69	3	5		5	SAG	2	234243614	Silent	SNP	A	TCGA-KU-A6H8-01A-21D-A34J-08	54789696	234243614	8955759	5	87612											
SCN11A	11280	broad.mit.edu	37	chr3	38938441	38938441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattttcgatccattccccGcagaggatgcggaataccac	11	10	8	12	3	0	1	0	0	0	1	3	4	2	3	4	2	2	1	4	2	3	5			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:38938441G>A	ENST00000450244.1	-	14	2496	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C	SCN11A_ENST00000444237.2_Silent_p.C766C|SCN11A_ENST00000302328.3_Silent_p.C766C|SCN11A_ENST00000456224.3_Silent_p.C766C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	766					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCATTCCCCGCAGAGGATGC	0.468													7	55					0	0	0	0	A	38938441	G	A	38938441	2	1	446	1	0	0	0	0	0	0	0	1	14000	1079	38	1		1	SCN11A	3	38938441	Silent	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08		38938441	159083989	6	87613											
IGSF11	152404	broad.mit.edu	37	chr3	118624539	118624539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacagggcactgatgttccGgatggtgactgttccctgga	8	10	14	9	1	0	3	0	2	0	1	2	5	2	5	2	4	0	3	2	4	0	2			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:118624539G>A	ENST00000354673.2	-	7	984	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	IGSF11_ENST00000489689.1_Missense_Mutation_p.R203W|IGSF11_ENST00000393775.2_Missense_Mutation_p.R203W|IGSF11_ENST00000491903.1_Missense_Mutation_p.R203W|IGSF11_ENST00000425327.2_Missense_Mutation_p.R202W|IGSF11_ENST00000441144.2_Missense_Mutation_p.R202W	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	203	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.R202W(2)|p.R203W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGATGTTCCGGATGGTGACT	0.473													13	65					0	0	0	0	A	118624539	G	A	118624539	3	1	446	1	0	0	0	0	1	0	0	0	7651	1115	39	1	700	1	IGSF11	3	118624539	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08	79686098	118624539	79397891	7	87614											
ATP13A5	344905	broad.mit.edu	37	chr3	193042744	193042744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggcagctggccatggccGcacacagtgggctccatggc	7	6	15	13	1	0	0	0	0	0	0	1	0	1	0	3	5	1	4	3	5	0	0			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:193042744G>A	ENST00000342358.4	-	14	1700	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	528					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCCATGGCCGCACACAGTGG	0.532													19	128					0	0	0	0	A	193042744	G	A	193042744	3	1	446	1	0	0	0	0	1	0	0	0	1131	1087	38	1	2139	1	ATP13A5	3	193042744	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08	74418205	193042744	4979686	8	87615											
GPR125	166647	broad.mit.edu	37	chr4	22390104	22390104	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaatacgagctccgtcCtgggcagcaagtcatgatcc	10	8	10	13	2	1	2	1	2	0	0	4	3	4	2	3	1	3	3	3	1	3	1			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:22390104C>A	ENST00000334304.5	-	19	3459	c.3190G>T	c.(3190-3192)Gga>Tga	p.G1064*	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1064					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			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)				GAGCTCCGTCCTGGGCAGCAA	0.517													12	45					6.40141e-05	6.81889e-05	1	0	A	22390104	C	A	22390104	4	1	446	1	0	0	0	0	0	1	0	0	6688	690	24	4	779	4	GPR125	4	22390104	Nonsense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08		22390104	168764172	9	87616											
CHRNA9	55584	broad.mit.edu	37	chr4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccggcctcagaaaatgtgCccctgataggtgagtccaag	10	8	12	11	1	1	3	1	2	0	1	2	3	2	3	5	2	2	0	5	2	4	1			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498													4	146					0	0	0	0	T	40351422	C	T	40351422	3	4	446	1	0	0	0	0	1	0	0	0	3418	739	26	4	903	4	CHRNA9	4	40351422	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	17961318	40351422	150802854	10	87617											
DSPP	1834	broad.mit.edu	37	chr4	88535050	88535050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgatcttgggcaaaggCaatgtcaagacacaaggaga	16	6	13	6	0	2	3	1	1	1	2	2	5	2	4	0	4	0	2	0	4	5	1			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:88535050C>T	ENST00000399271.1	+	5	1356	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.G412G	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	412					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGCAAAGGCAATGTCAAGA	0.443													11	65					0	0	0	0	T	88535050	C	T	88535050	2	4	446	1	0	0	0	0	0	0	0	1	4818	697	25	4		4	DSPP	4	88535050	Silent	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	48183628	88535050	102619226	11	87618											
FSTL5	56884	broad.mit.edu	37	chr4	163032513	163032513	+	Silent	SNP	T	T	A																															tccgactccagaaaaatgaaTccgagaaccaagacaactga																										TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:163032513T>A	ENST00000306100.5	-	2	472	c.36A>T	c.(34-36)ggA>ggT	p.G12G	FSTL5_ENST00000379164.4_Silent_p.G12G|FSTL5_ENST00000427802.2_Silent_p.G12G|FSTL5_ENST00000536695.1_Silent_p.G12G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	12						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAAAAATGAATCCGAGAACCA	0.378													5	70					0	0	0	0	A	163032513	T	A	163032513	2	1	446	1	0	0	0	0	0	0	0	1	6128	1422	50	5		5	FSTL5	4	163032513	Silent	SNP	T	TCGA-KU-A6H8-01A-21D-A34J-08	74497463	163032513	28121763	12	87619	1089	2									
FSTL5	56884	broad.mit.edu	37	chr4	163032514	163032514	+	Missense_Mutation	SNP	C	C	T																															ccgactccagaaaaatgaatCcgagaaccaagacaactgac																										TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:163032514C>T	ENST00000306100.5	-	2	471	c.35G>A	c.(34-36)gGa>gAa	p.G12E	FSTL5_ENST00000379164.4_Missense_Mutation_p.G12E|FSTL5_ENST00000427802.2_Missense_Mutation_p.G12E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G12E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	12						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAAAATGAATCCGAGAACCAA	0.378													5	71					0	0	0	0	T	163032514	C	T	163032514	3	4	446	1	0	0	0	0	1	0	0	0	6128	855	30	2	2568	2	FSTL5	4	163032514	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	1	163032514	28121762	13	87620	1089	2									
MET	4233	broad.mit.edu	37	chr7	116397793	116397793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgggaattctagacaCatttcaattggtggaaaaac	16	10	9	6	0	2	1	1	0	1	1	2	3	2	3	0	3	2	0	0	3	6	4			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr7:116397793C>A	ENST00000397752.3	+	8	2267	c.2067C>A	c.(2065-2067)caC>caA	p.H689Q	MET_ENST00000436117.2_Missense_Mutation_p.H689Q|MET_ENST00000318493.6_Missense_Mutation_p.H689Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	689	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATTCTAGACACATTTCAATTG	0.313			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				23	131					1.55469e-16	1.81381e-16	1	0	A	116397793	C	A	116397793	3	1	446	1	0	0	0	0	1	0	0	0	9554	477	17	4	2093	4	MET	7	116397793	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08		116397793	42740870	14	87621											
ANK1	286	broad.mit.edu	37	chr8	41550269	41550269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagcgcaggcgcccctctCgggggtcattcatcttggca	6	8	13	14	3	4	0	2	0	2	0	5	0	4	0	2	4	2	3	2	4	0	2			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr8:41550269C>T	ENST00000396942.1	-	31	3838	c.3755G>A	c.(3754-3756)cGa>cAa	p.R1252Q	ANK1_ENST00000347528.4_Missense_Mutation_p.R1252Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1252Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1252Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1252Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1293Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1252Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1252					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGCCCCTCTCGGGGGTCATT	0.552													9	319					0	0	0	0	T	41550269	C	T	41550269	3	4	446	1	0	0	0	0	1	0	0	0	620	884	31	1	2264	1	ANK1	8	41550269	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08		41550269	104813753	15	87622											
FAM166B	730112	broad.mit.edu	37	chr9	35562500	35562500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcccaaattcctgcaGtgcctggttggtgagcacag	7	11	11	12	0	1	1	0	1	1	0	2	1	2	1	3	2	4	3	3	2	1	3			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:35562500G>T	ENST00000399742.2	-	5	686	c.616C>A	c.(616-618)Ctg>Atg	p.L206M	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	206										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						AATTCCTGCAGTGCCTGGTTG	0.587													3	10					1	1	1	0	T	35562500	G	T	35562500	3	4	446	1	0	0	0	0	1	0	0	0	5523	1029	36	4	106	4	FAM166B	9	35562500	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08		35562500	105650931	16	87623											
GNA14	9630	broad.mit.edu	37	chr9	80144052	80144052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcatggcttgcatggcgGtgaatatgttttggtaaacc	9	14	12	6	1	1	2	1	2	0	0	1	2	1	2	1	4	2	4	1	4	4	5			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:80144052G>A	ENST00000341700.6	-	2	755	c.242C>T	c.(241-243)aCc>aTc	p.T81I		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	81					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTGCATGGCGGTGAATATGTT	0.453													5	321					0	0	0	0	A	80144052	G	A	80144052	3	1	446	1	0	0	0	0	1	0	0	0	6553	1261	44	4	849	4	GNA14	9	80144052	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08	44581552	80144052	61069379	17	87624											
DAB2IP	153090	broad.mit.edu	37	chr9	124528949	124528949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagtaccctgatgaccGcactgcccgcaccctcaccc	8	5	9	19	2	1	2	1	2	0	0	1	3	1	3	5	1	2	4	5	1	1	1			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:124528949G>A	ENST00000408936.3	+	9	1819	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	546	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGATGACCGCACTGCCCGC	0.627													5	153					0	0	0	0	A	124528949	G	A	124528949	3	1	446	1	0	0	0	0	1	0	0	0	4252	1087	38	1	1587	1	DAB2IP	9	124528949	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08	44384897	124528949	16684482	18	87625											
AGAP6	414189	broad.mit.edu	37	chr10	51754179	51754179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaataagaagaagcaactGtacaaaccatgtaagtaaac	22	6	7	6	0	0	3	0	0	0	3	0	3	0	3	1	0	5	4	1	0	10	4			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:51754179G>A	ENST00000374056.4	+	3	715	c.317G>A	c.(316-318)tGt>tAt	p.C106Y	AGAP6_ENST00000412531.3_Missense_Mutation_p.C129Y			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	129					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGAAGCAACTGTACAAACCAT	0.284													5	148					0	0	0	0	A	51754179	G	A	51754179	3	1	446	1	0	0	0	0	1	0	0	0	372	1377	48	4	400	4	AGAP6	10	51754179	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08		51754179	83780568	19	87626											
ZNF365	22891	broad.mit.edu	37	chr10	64382885	64382885	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggccatataaaccaccAtctttcggggttgaaagatt	11	14	8	8	1	1	2	0	1	1	1	2	2	1	2	3	3	1	1	3	3	4	7			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:64382885A>T	ENST00000410046.3	+	5	1284	c.1004A>T	c.(1003-1005)cAt>cTt	p.H335L	ZNF365_ENST00000395251.1_Intron	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	152										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAAACCACCATCTTTCGGGG	0.373													35	239					0	0	0	0	T	64382885	A	T	64382885	3	4	446	1	0	0	0	0	1	0	0	0	17964	217	8	5	1351	5	ZNF365	10	64382885	Missense_Mutation	SNP	A	TCGA-KU-A6H8-01A-21D-A34J-08	12628706	64382885	71151862	20	87627											
COL13A1	1305	broad.mit.edu	37	chr10	71690203	71690203	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctcctggtccccaaggCcccccaggaaaggatggacc	8	4	12	17	0	0	0	0	0	0	0	2	3	2	3	8	6	0	0	8	6	2	0			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:71690203C>A	ENST00000356340.3	+	28	2081	c.1545C>A	c.(1543-1545)ggC>ggA	p.G515G	COL13A1_ENST00000357811.3_Silent_p.G493G|COL13A1_ENST00000398978.3_Silent_p.G515G|COL13A1_ENST00000398973.3_Silent_p.G515G|COL13A1_ENST00000398966.3_Silent_p.G493G|COL13A1_ENST00000398964.3_Silent_p.G486G|COL13A1_ENST00000520267.1_Silent_p.G458G|COL13A1_ENST00000398971.3_Silent_p.G515G|COL13A1_ENST00000354547.3_Silent_p.G493G|COL13A1_ENST00000398974.3_Silent_p.G503G|COL13A1_ENST00000522165.1_Silent_p.G496G|COL13A1_ENST00000398972.3_Silent_p.G515G|COL13A1_ENST00000517713.1_Silent_p.G493G|COL13A1_ENST00000520133.1_Silent_p.G464G|COL13A1_ENST00000398969.3_Silent_p.G458G|COL13A1_ENST00000398968.3_Silent_p.G496G			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	515	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GTCCCCAAGGCCCCCCAGGAA	0.552													8	38					5.18039e-06	5.76907e-06	1	0	A	71690203	C	A	71690203	2	1	446	1	0	0	0	0	0	0	0	1	3700	726	26	4		4	COL13A1	10	71690203	Silent	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	7307318	71690203	63844544	21	87628											
DENND5B	160518	broad.mit.edu	37	chr12	31604900	31604900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagttctgcatctgttcccGgttggtcagccaggattcca	8	12	10	11	1	3	0	1	0	2	0	5	1	5	1	3	3	2	4	3	3	1	4			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:31604900G>A	ENST00000389082.5	-	5	1867	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	DENND5B_ENST00000354285.4_Missense_Mutation_p.R557W|DENND5B_ENST00000306833.6_Missense_Mutation_p.R570W|DENND5B_ENST00000536562.1_Missense_Mutation_p.R570W	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	535	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATCTGTTCCCGGTTGGTCAGC	0.378													9	52					0	0	0	0	A	31604900	G	A	31604900	3	1	446	1	0	0	0	0	1	0	0	0	4474	1115	39	1	2289	1	DENND5B	12	31604900	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08		31604900	102246995	22	87629											
TFCP2	7024	broad.mit.edu	37	chr12	51504700	51504700	+	Frame_Shift_Del	DEL	A	A	-																															tctttgcagggtcccacaggAactccactgtatttagttga																										TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:51504700delA	ENST00000307660.4	-	5	1244	c.524delT	c.(523-525)tcfs	p.F175fs	TFCP2_ENST00000257915.5_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000549867.1_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.F175fs	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	175	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GTCCCACAGGAACTCCACTGT	0.398													33	286	---	---	---	---					-	51504700	A	-	51504700	7	5	446	1	0	1	0	1	0	0	0	0	15889	246	9	0	1028	0	TFCP2	12	51504700	Frame_Shift_Del	DEL	A	TCGA-KU-A6H8-01A-21D-A34J-08	19899800	51504700	82347195	23	87630											
NAV3	89795	broad.mit.edu	37	chr12	78604218	78604218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagaagcagccaattactCgagcacacaaagctgcgaca	16	4	8	13	2	0	1	0	0	0	1	1	3	0	1	2	0	6	3	2	0	5	1			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:78604218C>T	ENST00000397909.2	+	40	7252	c.7079C>T	c.(7078-7080)tCg>tTg	p.S2360L	NAV3_ENST00000266692.7_Missense_Mutation_p.S2161L|NAV3_ENST00000541270.1_Missense_Mutation_p.S190L|NAV3_ENST00000228327.6_Missense_Mutation_p.S2338L|NAV3_ENST00000536525.2_Missense_Mutation_p.S2338L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2360						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCAATTACTCGAGCACACAA	0.423										HNSCC(70;0.22)			13	92					0	0	0	0	T	78604218	C	T	78604218	3	4	446	1	0	0	0	0	1	0	0	0	10255	893	31	1	7167	1	NAV3	12	78604218	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	27099518	78604218	55247677	24	87631											
KL	9365	broad.mit.edu	37	chr13	33638061	33638061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcacagctccgaggtttgGcctctatcgttatgctgcag	6	11	11	13	3	1	0	0	0	1	0	3	1	2	0	3	2	3	6	3	2	2	3			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr13:33638061G>T	ENST00000380099.3	+	5	2785	c.2777G>T	c.(2776-2778)gGc>gTc	p.G926V	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	926	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGAGGTTTGGCCTCTATCGT	0.458													26	148					3.6726e-16	4.18506e-16	1	0	T	33638061	G	T	33638061	3	4	446	1	0	0	0	0	1	0	0	0	8383	1203	42	4	2795	4	KL	13	33638061	Missense_Mutation	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08		33638061	81531817	25	87632											
PTGDR	5729	broad.mit.edu	37	chr14	52735009	52735009	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccggtggtgagcgccttCtccctggctttctgcgcgct	1	11	13	16	4	2	1	0	1	2	0	3	1	2	1	4	3	2	2	4	3	0	2			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr14:52735009C>T	ENST00000306051.2	+	1	579	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PTGDR_ENST00000553372.1_Silent_p.F159F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	159						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGAGCGCCTTCTCCCTGGCTT	0.637													4	108					0	0	0	0	T	52735009	C	T	52735009	2	4	446	1	0	0	0	0	0	0	0	1	12820	912	32	2		2	PTGDR	14	52735009	Silent	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08		52735009	54614531	26	87633											
PPM1A	5494	broad.mit.edu	37	chr14	60752348	60752348	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttttcttcccagggaagtCgagacaacatgagtgtgatt	10	14	10	7	1	1	3	0	2	1	1	3	5	2	4	1	1	1	0	1	1	2	5			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr14:60752348C>T	ENST00000395076.4	+	3	1271	c.841C>T	c.(841-843)Cga>Tga	p.R281*	PPM1A_ENST00000325658.3_Nonsense_Mutation_p.R281*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.R281*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.R354*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	281					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			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CCAGGGAAGTCGAGACAACAT	0.398													5	82					0	0	0	0	T	60752348	C	T	60752348	4	4	446	1	0	0	0	0	0	1	0	0	12411	876	31	1	1070	1	PPM1A	14	60752348	Nonsense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	8017339	60752348	46597192	27	87634											
CHD2	1106	broad.mit.edu	37	chr15	93518176	93518176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacttcaatgcagatgggtCtgaggtatactatgcatggc	10	11	11	9	0	2	2	1	1	1	1	2	2	2	2	1	3	3	3	1	3	4	4			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:93518176C>G	ENST00000394196.4	+	20	3641	c.2573C>G	c.(2572-2574)tCt>tGt	p.S858C	CHD2_ENST00000557381.1_Missense_Mutation_p.S858C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	858	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCAGATGGGTCTGAGGTATAC	0.413													14	96					0	0	0	0	G	93518176	C	G	93518176	3	3	446	1	0	0	0	0	1	0	0	0	3354	913	32	2	2651	2	CHD2	15	93518176	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08		93518176	9013216	28	87635											
PDXDC1	23042	broad.mit.edu	37	chr16	15111006	15111006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaacattggctctgggttAtgtctcctcatcagtgctgg	6	13	12	10	0	4	0	2	0	2	0	5	0	4	0	1	4	2	4	1	4	2	2			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr16:15111006A>G	ENST00000396410.4	+	10	939	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	PDXDC1_ENST00000325823.7_Missense_Mutation_p.Y266C|PDXDC1_ENST00000563679.1_Missense_Mutation_p.Y299C|PDXDC1_ENST00000569715.1_Missense_Mutation_p.Y254C|PDXDC1_ENST00000455313.2_Missense_Mutation_p.Y258C|PDXDC1_ENST00000535621.2_Missense_Mutation_p.Y281C|PDXDC1_ENST00000447912.2_Missense_Mutation_p.Y190C|PDXDC1_ENST00000450288.2_Missense_Mutation_p.Y253C	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	281					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTCTGGGTTATGTCTCCTCA	0.358													34	462					0	0	0	0	G	15111006	A	G	15111006	3	3	446	1	0	0	0	0	1	0	0	0	11767	449	16	5	880	5	PDXDC1	16	15111006	Missense_Mutation	SNP	A	TCGA-KU-A6H8-01A-21D-A34J-08		15111006	75243747	29	87636											
TP53	7157	broad.mit.edu	37	chr17	7579592	7579592	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggacggcaagggggacTgtagatgggtgaaaagagca	12	6	18	5	1	0	3	0	1	0	2	0	5	0	5	0	5	1	3	0	5	4	2			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:7579592T>A	ENST00000420246.2	-	4	229		c.e4-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CAAGGGGGACTGTAGATGGGT	0.597		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)			6	232					0	0	0	0	A	7579592	T	A	7579592	5	1	446	1	0	0	0	0	0	0	1	0	16476	1594	55	5	1207	5	TP53	17	7579592	Splice_Site	SNP	T	TCGA-KU-A6H8-01A-21D-A34J-08		7579592	73615618	30	87637											
KRT10	3858	broad.mit.edu	37	chr17	38978344	38978344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgattcttccagagccCgaactttgtccaagtaggaa	11	12	9	9	1	1	2	0	1	1	1	3	4	3	3	3	1	2	2	3	1	4	5			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:38978344C>T	ENST00000269576.5	-	1	503	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	165	Coil 1A.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTCCAGAGCCCGAACTTTGTC	0.483													19	144					0	0	0	0	T	38978344	C	T	38978344	3	4	446	1	0	0	0	0	1	0	0	0	8500	652	23	1	1292	1	KRT10	17	38978344	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	31398752	38978344	42216866	31	87638											
HDAC5	10014	broad.mit.edu	37	chr17	42156002	42156002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaccggcccagaccagcGgcgaacttctgcacacagct	10	4	12	15	3	1	1	0	0	1	1	1	3	1	2	3	3	4	2	3	3	1	1			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:42156002G>A	ENST00000225983.6	-	26	3521	c.3198C>T	c.(3196-3198)gcC>gcT	p.A1066A	HDAC5_ENST00000586802.1_Silent_p.A1065A|HDAC5_ENST00000393622.2_Silent_p.A1065A|HDAC5_ENST00000336057.5_Silent_p.A980A			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1065					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCAGACCAGCGGCGAACTTCT	0.657													30	253					0	0	0	0	A	42156002	G	A	42156002	2	1	446	1	0	0	0	0	0	0	0	1	7060	1103	39	1		1	HDAC5	17	42156002	Silent	SNP	G	TCGA-KU-A6H8-01A-21D-A34J-08	3177658	42156002	39039208	32	87639											
SPATA20	64847	broad.mit.edu	37	chr17	48628464	48628464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggccgtgcggaccttgCtcaattcagggctggagaag	8	8	16	9	2	2	1	2	0	0	1	2	4	2	3	2	5	2	2	2	5	2	2			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:48628464C>T	ENST00000006658.6	+	12	1609	c.1489C>T	c.(1489-1491)Ctc>Ttc	p.L497F	SPATA20_ENST00000393244.3_Missense_Mutation_p.L437F|SPATA20_ENST00000356488.4_Missense_Mutation_p.L481F|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	481					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GCGGACCTTGCTCAATTCAGG	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	43					0	0	0	0	T	48628464	C	T	48628464	3	4	446	1	0	0	0	0	1	0	0	0	15096	797	28	4	1535	4	SPATA20	17	48628464	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08	6472462	48628464	32566746	33	87640											
STXBP4	252983	broad.mit.edu	37	chr17	53156045	53156045	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccatcttgtttgttgctAggctattcaagaagtatttt	9	18	7	7	0	3	1	2	0	1	1	3	1	3	1	1	1	1	5	1	1	5	9			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:53156045A>T	ENST00000376352.2	+	15	1512		c.e15-1		STXBP4_ENST00000434978.2_Splice_Site	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4							cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GTTTGTTGCTAGGCTATTCAA	0.289													5	59					0	0	0	0	T	53156045	A	T	53156045	5	4	446	1	0	0	0	0	0	0	1	0	15445	434	15	5	1354	5	STXBP4	17	53156045	Splice_Site	SNP	A	TCGA-KU-A6H8-01A-21D-A34J-08	4527581	53156045	28039165	34	87641											
ATP8B1	5205	broad.mit.edu	37	chr18	55368320	55368320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgttgatttccttatccaTtttatggcgagccttgagaa	9	17	8	7	1	0	2	0	2	0	1	2	4	2	2	3	1	1	1	3	1	3	7			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr18:55368320T>C	ENST00000536015.1	-	6	624	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	ATP8B1_ENST00000283684.4_Missense_Mutation_p.M169V|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	169					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCCTTATCCATTTTATGGCGA	0.393													27	121					0	0	0	0	C	55368320	T	C	55368320	3	2	446	1	0	0	0	0	1	0	0	0	1198	1493	52	5	3342	5	ATP8B1	18	55368320	Missense_Mutation	SNP	T	TCGA-KU-A6H8-01A-21D-A34J-08		55368320	22708928	35	87642											
WDR83	84292	broad.mit.edu	37	chr19	12781579	12781579	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagtgcagacgctggaTgaggccagagatggcgtgtc	9	6	17	9	2	0	3	0	1	0	2	1	6	0	4	2	3	2	2	2	3	0	0			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr19:12781579T>A	ENST00000418543.3	+	7	799	c.450T>A	c.(448-450)gaT>gaA	p.D150E	WDR83_ENST00000242796.4_Missense_Mutation_p.D150E|WDR83OS_ENST00000600694.1_5'UTR|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	150					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						AGACGCTGGATGAGGCCAGAG	0.607													5	33					0	0	0	0	A	12781579	T	A	12781579	3	1	446	1	0	0	0	0	1	0	0	0	17428	1461	51	5	468	5	WDR83	19	12781579	Missense_Mutation	SNP	T	TCGA-KU-A6H8-01A-21D-A34J-08		12781579	46347404	36	87643											
INSM1	3642	broad.mit.edu	37	chr20	20349570	20349570	+	Frame_Shift_Del	DEL	C	C	-																															ggcagtcaaggccccgggcgCcaagaagcccaaggccatcc																										TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr20:20349570delC	ENST00000310227.1	+	1	806	c.659delC	c.(658-660)gcfs	p.A220fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	220	Ala/Gly/Pro-rich.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GCCCCGGGCGCCAAGAAGCCC	0.756													2	4	---	---	---	---					-	20349570	C	-	20349570	7	5	446	1	0	1	0	1	0	0	0	0	7824	739	26	0	661	0	INSM1	20	20349570	Frame_Shift_Del	DEL	C	TCGA-KU-A6H8-01A-21D-A34J-08		20349570	42675950	37	87644											
WNK3	65267	broad.mit.edu	37	chrX	54276495	54276495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggagactgagtctcaCggtttcttatcgtctgattg	9	13	12	7	2	3	3	1	2	3	1	5	5	3	4	0	3	0	1	0	3	2	3			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chrX:54276495C>T	ENST00000354646.2	-	16	3083	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	WNK3_ENST00000375159.2_Missense_Mutation_p.R882H|WNK3_ENST00000375169.3_Missense_Mutation_p.R882H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	882					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTGAGTCTCACGGTTTCTTAT	0.463													4	7					0	0	0	0	T	54276495	C	T	54276495	3	4	446	1	0	0	0	0	1	0	0	0	17475	536	19	1	2793	1	WNK3	23	54276495	Missense_Mutation	SNP	C	TCGA-KU-A6H8-01A-21D-A34J-08		54276495	100994065	38	87645											
SPEN	23013	broad.mit.edu	37	chr1	16255489	16255489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctggaccagaaacttcaGgtctctcagacggagcctgc	9	7	11	14	1	3	2	2	0	1	2	4	4	3	4	3	3	3	0	3	3	1	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:16255489G>T	ENST00000375759.3	+	11	2958	c.2754G>T	c.(2752-2754)caG>caT	p.Q918H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	918					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAAACTTCAGGTCTCTCAGA	0.443													46	188					5.20006e-24	5.77207e-24	1	0	T	16255489	G	T	16255489	3	4	447	1	0	0	0	0	1	0	0	0	15128	991	35	4	2796	4	SPEN	1	16255489	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		16255489	232995132	1	87646											
NT5C1A	84618	broad.mit.edu	37	chr1	40131868	40131868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccatgcgaaacaaggctCgggaggacacagcgatggtg	11	5	15	10	4	0	0	0	0	0	0	2	4	1	2	1	4	3	1	1	4	2	0			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:40131868C>T	ENST00000235628.1	-	2	175	c.176G>A	c.(175-177)cGa>cAa	p.R59Q		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	59					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAACAAGGCTCGGGAGGACAC	0.582													6	47					0	0	0	0	T	40131868	C	T	40131868	3	4	447	1	0	0	0	0	1	0	0	0	10756	884	31	1	950	1	NT5C1A	1	40131868	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	23876379	40131868	209118753	2	87647											
RLF	6018	broad.mit.edu	37	chr1	40627183	40627183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtccatggttcggggtcatCgccccgtatctccagcgccg	5	9	12	15	5	2	0	1	0	1	0	6	0	3	0	5	3	1	2	5	3	1	2	rs147792979	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:40627183C>T	ENST00000372771.4	+	1	139	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	38					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCGGGGTCATCGCCCCGTATC	0.672													3	29					0	0	0	0	T	40627183	C	T	40627183	3	4	447	1	0	0	0	0	1	0	0	0	13474	884	31	1	114	1	RLF	1	40627183	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	495315	40627183	208623438	3	87648											
SGIP1	84251	broad.mit.edu	37	chr1	67185026	67185026	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgggagctcaggacactctCcctgttgcagcagcatttac	9	10	10	12	0	2	0	1	0	1	0	3	2	2	2	1	2	5	5	1	2	1	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:67185026C>G	ENST00000371037.4	+	19	1757	c.1680C>G	c.(1678-1680)ctC>ctG	p.L560L	SGIP1_ENST00000237247.6_Silent_p.L591L|SGIP1_ENST00000371035.3_Silent_p.L350L|SGIP1_ENST00000435165.2_Silent_p.L65L|SGIP1_ENST00000371036.3_Silent_p.L362L|SGIP1_ENST00000371039.1_Silent_p.L363L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	560					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGGACACTCTCCCTGTTGCAG	0.438													6	38					0	0	0	0	G	67185026	C	G	67185026	2	3	447	1	0	0	0	0	0	0	0	1	14293	842	30	2		2	SGIP1	1	67185026	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	26557843	67185026	182065595	4	87649											
HMCN1	83872	broad.mit.edu	37	chr1	185891515	185891515	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattaaacattttcagacctCaagcagtggaaggcactctg	13	10	8	10	0	3	1	2	0	1	1	3	2	3	2	1	2	2	2	1	2	4	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:185891515C>G	ENST00000271588.4	+	7	1134	c.905C>G	c.(904-906)tCa>tGa	p.S302*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S302*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	302					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTCAGACCTCAAGCAGTGGA	0.448													11	59					0	0	0	0	G	185891515	C	G	185891515	4	3	447	1	0	0	0	0	0	1	0	0	7270	838	29	2	931	2	HMCN1	1	185891515	Nonsense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	118706489	185891515	63359106	5	87650											
NEK7	140609	broad.mit.edu	37	chr1	198288545	198288545	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttcttcacagctcCgacagttagttaatatgtgc	8	18	6	9	1	3	0	1	0	2	0	4	1	4	0	1	0	2	3	1	0	3	7			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:198288545C>T	ENST00000367385.4	+	10	1144	c.802C>T	c.(802-804)Cga>Tga	p.R268*	NEK7_ENST00000538004.1_Nonsense_Mutation_p.R268*	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	268	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TTCACAGCTCCGACAGTTAGT	0.378													3	27					0	0	0	0	T	198288545	C	T	198288545	4	4	447	1	0	0	0	0	0	1	0	0	10399	644	23	1	836	1	NEK7	1	198288545	Nonsense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	12397030	198288545	50962076	6	87651											
PLEKHA6	22874	broad.mit.edu	37	chr1	204234159	204234159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgctgcccaggatactctCttccttctcatctgtcaggg	6	13	9	13	0	4	0	2	0	3	0	7	2	5	1	2	2	3	1	2	2	1	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:204234159C>G	ENST00000272203.3	-	6	608	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E98Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	98	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGATACTCTCTTCCTTCTCA	0.592													19	77					0	0	0	0	G	204234159	C	G	204234159	3	3	447	1	0	0	0	0	1	0	0	0	12132	922	32	2	2922	2	PLEKHA6	1	204234159	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	5945614	204234159	45016462	7	87652											
SUSD4	55061	broad.mit.edu	37	chr1	223401022	223401022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcacactggttgccgtGaacgccacaatcttccacgt	10	8	9	14	3	1	1	0	1	1	0	2	1	2	1	3	1	4	3	3	1	2	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:223401022G>A	ENST00000343846.3	-	6	1608	c.975C>T	c.(973-975)ttC>ttT	p.F325F	SUSD4_ENST00000454695.2_Silent_p.F165F|SUSD4_ENST00000366878.4_Silent_p.F325F|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	325						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGTTGCCGTGAACGCCACAA	0.587													3	19					0	0	0	0	A	223401022	G	A	223401022	2	1	447	1	0	0	0	0	0	0	0	1	15500	1281	45	2		2	SUSD4	1	223401022	Silent	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	19166863	223401022	25849599	8	87653											
PARP1	142	broad.mit.edu	37	chr1	226567780	226567780	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctcttggtggaggcggaGacgtcctggaggaagtcctc	7	8	17	9	2	1	1	0	0	1	1	4	5	3	4	2	7	0	1	2	7	1	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr1:226567780G>C	ENST00000366794.5	-	10	1529	c.1386C>G	c.(1384-1386)gtC>gtG	p.V462V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	462	Automodification domain.|BRCT.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGAGGCGGAGACGTCCTGGA	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					6	42					0	0	0	0	C	226567780	G	C	226567780	2	2	447	1	0	0	0	0	0	0	0	1	11525	929	33	2		2	PARP1	1	226567780	Silent	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	3166758	226567780	22682841	9	87654											
OTOF	9381	broad.mit.edu	37	chr2	26739314	26739314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttctctcctgggggccGggagctgggccgggagcctg	2	8	18	13	2	2	0	0	0	2	0	4	2	3	2	4	5	2	2	4	5	0	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr2:26739314G>A	ENST00000272371.2	-	5	607	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	OTOF_ENST00000403946.3_Missense_Mutation_p.R161W	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	161					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGGGCCGGGAGCTGGGC	0.637													12	124					0	0	0	0	A	26739314	G	A	26739314	3	1	447	1	0	0	0	0	1	0	0	0	11374	1115	39	1	6009	1	OTOF	2	26739314	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		26739314	216460059	10	87655											
MTA3	57504	broad.mit.edu	37	chr2	42935134	42935134	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttattggaaaaaatatggAggcttgaaaatgcccaccca	15	10	8	8	0	0	1	0	1	0	0	0	3	0	3	2	3	1	1	2	3	7	5			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr2:42935134A>T	ENST00000405592.1	+	14	1741	c.1071A>T	c.(1069-1071)ggA>ggT	p.G357G	MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000407270.3_Silent_p.G414G|MTA3_ENST00000406652.1_Silent_p.G357G|MTA3_ENST00000406911.1_Silent_p.G413G|MTA3_ENST00000405094.1_Silent_p.G414G			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	414						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AAAAATATGGAGGCTTGAAAA	0.408													9	57					0	0	0	0	T	42935134	A	T	42935134	2	4	447	1	0	0	0	0	0	0	0	1	9980	291	11	5		5	MTA3	2	42935134	Silent	SNP	A	TCGA-MT-A51W-01A-21D-A25Y-08	16195820	42935134	200264239	11	87656											
PNPT1	87178	broad.mit.edu	37	chr2	55873415	55873415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaagcttgttgaatagcctCcatcacaatttttattggta	11	16	7	7	0	1	2	1	2	0	0	2	2	2	2	2	1	2	3	2	1	6	8			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr2:55873415C>G	ENST00000447944.2	-	21	1803	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	573					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAATAGCCTCCATCACAATT	0.323													10	48					0	0	0	0	G	55873415	C	G	55873415	3	3	447	1	0	0	0	0	1	0	0	0	12245	864	30	2	666	2	PNPT1	2	55873415	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	12938281	55873415	187325958	12	87657											
LRP1B	53353	broad.mit.edu	37	chr2	141259405	141259405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgggaatgcacctgcCatttttgcacataaaaaatg	13	11	7	10	0	0	0	0	0	0	0	1	1	1	1	3	1	3	2	3	1	4	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr2:141259405C>A	ENST00000389484.3	-	55	9672	c.8701G>T	c.(8701-8703)Ggc>Tgc	p.G2901C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2901	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCACCTGCCATTTTTGCAC	0.373										TSP Lung(27;0.18)			4	57					0.00024832	0.000257603	1	0	A	141259405	C	A	141259405	3	1	447	1	0	0	0	0	1	0	0	0	9019	594	21	4	5246	4	LRP1B	2	141259405	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	85385990	141259405	101939968	13	87658											
ERBB4	2066	broad.mit.edu	37	chr2	212426726	212426726	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagccatggggcataagttGagtaaccagctggatggttg	10	9	15	7	0	0	1	0	1	0	0	0	2	0	2	2	4	3	6	2	4	2	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr2:212426726G>A	ENST00000342788.4	-	20	2699	c.2389C>T	c.(2389-2391)Caa>Taa	p.Q797*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q787*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q797*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	797	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGCATAAGTTGAGTAACCAGC	0.488										TSP Lung(8;0.080)			16	65					0	0	0	0	A	212426726	G	A	212426726	4	1	447	1	0	0	0	0	0	1	0	0	5247	1299	45	2	1573	2	ERBB4	2	212426726	Nonsense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	71167321	212426726	30772647	14	87659											
ENTPD3	956	broad.mit.edu	37	chr3	40457421	40457421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacccaaatatccttcGtggcaggagagaagatggat	12	8	10	11	1	0	2	0	0	0	2	3	5	2	4	4	3	0	1	4	3	3	2	rs144633113	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr3:40457421G>A	ENST00000301825.3	+	7	806	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.V230M|ENTPD3_ENST00000456402.1_Missense_Mutation_p.V230M	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	230						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AATATCCTTCGTGGCAGGAGA	0.552													3	27					0	0	0	0	A	40457421	G	A	40457421	3	1	447	1	0	0	0	0	1	0	0	0	5178	1145	40	1	710	1	ENTPD3	3	40457421	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		40457421	157565009	15	87660											
C3orf30	152405	broad.mit.edu	37	chr3	118865466	118865466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacggaggaaagaactgctGaacagactgaacgaagatta	17	6	12	6	2	0	6	0	3	0	3	0	9	0	8	0	2	4	1	0	2	6	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr3:118865466G>A	ENST00000295622.1	+	1	470	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	144										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGAACTGCTGAACAGACTGA	0.488													13	55					0	0	0	0	A	118865466	G	A	118865466	3	1	447	1	0	0	0	0	1	0	0	0	2240	1291	45	2	432	2	C3orf30	3	118865466	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	78408045	118865466	79156964	16	87661			1	141		3	3	185	G		1.096093e-07
C3orf30	152405	broad.mit.edu	37	chr3	118865597	118865597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatggcaggccagtctgaGagaagagcttccgagcagat	13	6	14	8	1	1	5	0	1	1	4	2	7	2	5	2	2	2	3	2	2	2	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr3:118865597G>C	ENST00000295622.1	+	1	601	c.561G>C	c.(559-561)gaG>gaC	p.E187D		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	187										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCAGTCTGAGAGAAGAGCTT	0.507													17	81					0	0	0	0	C	118865597	G	C	118865597	3	2	447	1	0	0	0	0	1	0	0	0	2240	933	33	2	563	2	C3orf30	3	118865597	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	131	118865597	79156833	17	87662			1	141		3	3	185	G		1.096093e-07
C3orf30	152405	broad.mit.edu	37	chr3	118865650	118865650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctggcgaggctgagcgaaGaacttctgagcagattacac	11	8	13	9	2	2	4	0	2	2	2	2	6	2	4	0	2	4	2	0	2	3	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr3:118865650G>C	ENST00000295622.1	+	1	654	c.614G>C	c.(613-615)aGa>aCa	p.R205T		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	205										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCTGAGCGAAGAACTTCTGAG	0.517													14	104					0	0	0	0	C	118865650	G	C	118865650	3	2	447	1	0	0	0	0	1	0	0	0	2240	942	33	2	616	2	C3orf30	3	118865650	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	53	118865650	79156780	18	87663			1	141		3	3	185	G		1.096093e-07
SI	6476	broad.mit.edu	37	chr3	164735605	164735605	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccaaaaacatataaaaatCcaagatccctccaactgtac	18	7	3	13	0	0	1	0	0	0	1	3	1	3	1	4	0	3	1	4	0	9	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr3:164735605C>G	ENST00000264382.3	-	30	3639	c.3577G>C	c.(3577-3579)Gat>Cat	p.D1193H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1193	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.D1193N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATATAAAAATCCAAGATCCCT	0.333										HNSCC(35;0.089)			6	66					0	0	0	0	G	164735605	C	G	164735605	3	3	447	1	0	0	0	0	1	0	0	0	14385	855	30	2	1982	2	SI	3	164735605	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	45869955	164735605	33286825	19	87664											
SLITRK3	22865	broad.mit.edu	37	chr3	164908105	164908105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccctcaatttacttaGgttccgaaatgccccactct	11	11	5	14	1	2	1	1	0	1	1	3	2	3	1	4	1	3	1	4	1	5	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr3:164908105G>A	ENST00000475390.1	-	2	957	c.514C>T	c.(514-516)Cta>Tta	p.L172L	SLITRK3_ENST00000241274.3_Silent_p.L172L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	172						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AATTTACTTAGGTTCCGAAAT	0.398										HNSCC(40;0.11)			21	68					0	0	0	0	A	164908105	G	A	164908105	2	1	447	1	0	0	0	0	0	0	0	1	14832	991	35	4		4	SLITRK3	3	164908105	Silent	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	172500	164908105	33114325	20	87665											
TXK	7294	broad.mit.edu	37	chr4	48088525	48088525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaaatcctcttcagacatgGagccttcattgatggccttg	9	13	9	10	0	3	3	2	2	1	1	4	4	4	4	3	2	1	0	3	2	1	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr4:48088525G>C	ENST00000264316.4	-	10	999	c.914C>G	c.(913-915)tCc>tGc	p.S305C		NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	305	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTCAGACATGGAGCCTTCATT	0.433													13	131					0	0	0	0	C	48088525	G	C	48088525	3	2	447	1	0	0	0	0	1	0	0	0	16882	1174	41	2	693	2	TXK	4	48088525	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		48088525	143065751	21	87666											
PCDHB5	26167	broad.mit.edu	37	chr5	140515776	140515776	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtacaggtgcccgagAacagcccccttaactcctta	11	8	9	13	1	0	2	0	1	0	1	1	3	1	2	4	2	5	1	4	2	4	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr5:140515776A>T	ENST00000231134.5	+	1	977	c.760A>T	c.(760-762)Aac>Tac	p.N254Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		254	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCCCGAGAACAGCCCCCT	0.493													103	223					0	0	0	0	T	140515776	A	T	140515776	3	4	447	1	0	0	0	0	1	0	0	0	11616	246	9	5	762	5	PCDHB5	5	140515776	Missense_Mutation	SNP	A	TCGA-MT-A51W-01A-21D-A25Y-08		140515776	40399484	22	87667											
FLT4	2324	broad.mit.edu	37	chr5	180048764	180048764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcgggttcccgtgcgcatCgtgcagcgtggacaggttga	7	8	16	10	5	0	1	0	1	0	0	2	2	1	2	1	3	4	4	1	3	1	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr5:180048764C>T	ENST00000261937.6	-	13	1876	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	FLT4_ENST00000502649.1_Missense_Mutation_p.D600N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.D600N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	600	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTGCGCATCGTGCAGCGTG	0.657													30	55					0	0	0	0	T	180048764	C	T	180048764	3	4	447	1	0	0	0	0	1	0	0	0	5989	884	31	1	2373	1	FLT4	5	180048764	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	39532988	180048764	866496	23	87668											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158602	26158602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcatgaattccttcgtcaacGacatcttcgagcgcatcgca	10	11	7	13	5	3	1	2	1	1	0	7	3	4	1	1	0	2	2	1	0	2	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:26158602G>C	ENST00000289316.2	+	1	229	c.205G>C	c.(205-207)Gac>Cac	p.D69H	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.D69H	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	69					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CTTCGTCAACGACATCTTCGA	0.577													11	184					0	0	0	0	C	26158602	G	C	26158602	3	2	447	1	0	0	0	0	1	0	0	0	7193	1058	37	3	207	3	HIST1H2BD	6	26158602	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		26158602	144956465	24	87669											
PHF1	5252	broad.mit.edu	37	chr6	33381858	33381858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgtgtcgcgggggccctGagaaagtccggagactacag	8	7	17	9	3	0	2	0	1	0	2	2	4	1	2	2	3	1	0	2	3	2	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:33381858G>A	ENST00000374516.3	+	8	995	c.724G>A	c.(724-726)Gag>Aag	p.E242K	PHF1_ENST00000374512.3_Missense_Mutation_p.E242K	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	242					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CGGGGGCCCTGAGAAAGTCCG	0.527													15	79					0	0	0	0	A	33381858	G	A	33381858	3	1	447	1	0	0	0	0	1	0	0	0	11892	1291	45	2	750	2	PHF1	6	33381858	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	7223256	33381858	137733209	25	87670											
HSP90AB1	3326	broad.mit.edu	37	chr6	44220884	44220884	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaaagcccaggcacttCgggacaactccaccatgggc	11	6	10	14	1	1	1	1	1	0	0	3	2	2	2	3	3	2	1	3	3	2	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:44220884C>A	ENST00000371554.1	+	11	2048	c.1834C>A	c.(1834-1836)Cgg>Agg	p.R612R	HSP90AB1_ENST00000371646.5_Silent_p.R612R|HSP90AB1_ENST00000353801.3_Silent_p.R612R			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	612					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAGGCACTTCGGGACAACTC	0.547													16	159					3.45872e-05	3.62186e-05	1	0	A	44220884	C	A	44220884	2	1	447	1	0	0	0	0	0	0	0	1	7454	875	31	3		3	HSP90AB1	6	44220884	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	10839026	44220884	126894183	26	87671											
DST	667	broad.mit.edu	37	chr6	56420405	56420405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcactcagtttatcagaaagGcttctcagcaggctttgata	11	13	8	9	0	4	2	4	1	1	1	5	2	4	2	0	2	1	4	0	2	3	5			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:56420405G>A	ENST00000370754.5	-	60	14780	c.14781C>T	c.(14779-14781)agC>agT	p.S4927S	DST_ENST00000244364.6_Silent_p.S2335S|DST_ENST00000370788.2_Silent_p.S2661S|DST_ENST00000361203.3_Silent_p.S4747S|DST_ENST00000370769.4_Silent_p.S4749S|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.S4423S|DST_ENST00000421834.2_Silent_p.S2661S			Q03001	DYST_HUMAN	dystonin	4747					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGAAAGGCTTCTCAGCA	0.458													11	79					0	0	0	0	A	56420405	G	A	56420405	2	1	447	1	0	0	0	0	0	0	0	1	4819	1194	42	4		4	DST	6	56420405	Silent	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	12199521	56420405	114694662	27	87672											
DST	667	broad.mit.edu	37	chr6	56765377	56765377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgggcagctgcggccgCtgcaactcgtcttctaagat	8	8	12	13	4	2	2	0	0	2	2	3	2	2	2	1	2	4	4	1	2	2	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:56765377C>T	ENST00000370754.5	-	3	258	c.259G>A	c.(259-261)Gcg>Acg	p.A87T				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGCGGCCGCTGCAACTCGT	0.493													20	89					0	0	0	0	T	56765377	C	T	56765377	3	4	447	1	0	0	0	0	1	0	0	0	4819	812	28	4		4	DST	6	56765377	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	344972	56765377	114349690	28	87673											
EYS	346007	broad.mit.edu	37	chr6	66054005	66054005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcacataggttgcatcttCagtgcagtttgcagccagaa	10	12	10	9	0	3	1	2	0	1	1	3	1	3	1	1	1	4	6	1	1	2	5			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:66054005C>T	ENST00000503581.1	-	10	2062	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	EYS_ENST00000393380.2_Missense_Mutation_p.E509K|EYS_ENST00000342421.5_Missense_Mutation_p.E509K|EYS_ENST00000370616.2_Missense_Mutation_p.E509K|EYS_ENST00000370618.3_Missense_Mutation_p.E509K|EYS_ENST00000370621.3_Missense_Mutation_p.E509K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	509					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTGCATCTTCAGTGCAGTTT	0.353													7	76					0	0	0	0	T	66054005	C	T	66054005	3	4	447	1	0	0	0	0	1	0	0	0	5370	835	29	2	8007	2	EYS	6	66054005	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	9288628	66054005	105061062	29	87674											
EPHA7	2045	broad.mit.edu	37	chr6	94068105	94068105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgaagatcttgagaggaaGacttgtagaacccacggcca	14	7	11	9	1	1	5	0	2	1	4	1	7	1	6	2	2	1	1	2	2	4	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:94068105G>A	ENST00000369303.4	-	4	1041	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	286	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGAGAGGAAGACTTGTAGAA	0.403													3	32					0	0	0	0	A	94068105	G	A	94068105	3	1	447	1	0	0	0	0	1	0	0	0	5210	942	33	2	2195	2	EPHA7	6	94068105	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	28014100	94068105	77046962	30	87675											
ZBTB24	9841	broad.mit.edu	37	chr6	109787621	109787622	+	Frame_Shift_Ins	INS	-	-	A																															tctccttgctatgaattttcINSaagtgagccttcaagttgtc																										TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:109787621_109787622insA	ENST00000230122.3	-	7	1693_1694	c.1526_1527insT	c.(1525-1527)taafs	p.*509fs		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TATGAATTTTCAAGTGAGCCTT	0.45													27	112	---	---	---	---					A	109787622	-	A	109787621	7	5	447	1	0	1	1	0	0	0	0	0	17626	825	29	0	570	0	ZBTB24	6	109787621	Frame_Shift_Ins	INS	-	TCGA-MT-A51W-01A-21D-A25Y-08	15719516	109787621	61327446	31	87676											
CDK19	23097	broad.mit.edu	37	chr6	110935826	110935826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtgctctgggactgagagGatccctgaacgctgctttgg	6	11	15	9	1	1	2	0	2	1	1	2	5	2	4	1	3	3	3	1	3	1	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr6:110935826G>A	ENST00000368911.3	-	13	1600	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	CDK19_ENST00000323817.3_Missense_Mutation_p.S414F|CDK19_ENST00000413605.2_Missense_Mutation_p.S350F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	474	Ser-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GGACTGAGAGGATCCCTGAAC	0.532													12	37					0	0	0	0	A	110935826	G	A	110935826	3	1	447	1	0	0	0	0	1	0	0	0	3164	1174	41	2	91	2	CDK19	6	110935826	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	1148205	110935826	60179241	32	87677											
ZNF804B	219578	broad.mit.edu	37	chr7	88965282	88965282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaatgatcaagacagtGcaattccaaggactacggag	16	6	11	8	1	1	3	1	1	0	2	2	5	2	5	1	2	2	2	1	2	5	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr7:88965282G>A	ENST00000333190.4	+	4	3595	c.2986G>A	c.(2986-2988)Gca>Aca	p.A996T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	996						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAAGACAGTGCAATTCCAAG	0.373										HNSCC(36;0.09)			14	216					0	0	0	0	A	88965282	G	A	88965282	3	1	447	1	0	0	0	0	1	0	0	0	18264	1319	46	4	3000	4	ZNF804B	7	88965282	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		88965282	70173381	33	87678											
CBLL1	79872	broad.mit.edu	37	chr7	107399511	107399511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtcctggtatatggcCtgcaccaagagggccaccac	11	7	11	12	0	0	2	0	1	0	1	1	2	1	2	5	3	1	2	5	3	4	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr7:107399511C>A	ENST00000440859.2	+	6	1831	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P454H	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	455	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GGTATATGGCCTGCACCAAGA	0.512													55	124					9.52127e-25	1.06754e-24	1	0	A	107399511	C	A	107399511	3	1	447	1	0	0	0	0	1	0	0	0	2728	681	24	4	1386	4	CBLL1	7	107399511	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	18434229	107399511	51739152	34	87679											
UBE3C	9690	broad.mit.edu	37	chr7	156979548	156979548	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggatggcagactgtcagtAtcatacataacagaggaatg	15	8	12	6	0	2	2	2	0	0	2	2	5	2	4	0	3	2	2	0	3	4	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr7:156979548A>G	ENST00000348165.5	+	10	1524	c.1164A>G	c.(1162-1164)gtA>gtG	p.V388V	UBE3C_ENST00000389103.4_Silent_p.V345V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	388					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GACTGTCAGTATCATACATAA	0.483													6	23					0	0	0	0	G	156979548	A	G	156979548	2	3	447	1	0	0	0	0	0	0	0	1	16977	436	16	5		5	UBE3C	7	156979548	Silent	SNP	A	TCGA-MT-A51W-01A-21D-A25Y-08	49580037	156979548	2159115	35	87680											
SNTG1	54212	broad.mit.edu	37	chr8	51503438	51503438	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attatttatttatcattgcaGattaaaaaaatcaacagaaa	20	14	3	4	0	2	2	2	0	0	2	2	2	2	2	0	0	2	1	0	0	9	7			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr8:51503438G>C	ENST00000522124.1	+	13	1471		c.e13-1		SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TATCATTGCAGATTAAAAAAA	0.269													3	13					0	0	0	0	C	51503438	G	C	51503438	5	2	447	1	0	0	0	0	0	0	1	0	14962	956	33	2	852	2	SNTG1	8	51503438	Splice_Site	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		51503438	94860584	36	87681											
ZCCHC6	79670	broad.mit.edu	37	chr9	88924883	88924883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatagcacaaatacttcactCtgggatcaatggcggaataa	15	10	8	8	1	3	0	2	0	1	0	3	2	3	2	0	3	2	1	0	3	7	5			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr9:88924883C>G	ENST00000277141.6	-	20	3719	c.1295G>C	c.(1294-1296)aGa>aCa	p.R432T	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1143T|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R81T|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R907T|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R1143T			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1143					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATACTTCACTCTGGGATCAAT	0.358													6	51					0	0	0	0	G	88924883	C	G	88924883	3	3	447	1	0	0	0	0	1	0	0	0	17687	913	32	2	1095	2	ZCCHC6	9	88924883	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08		88924883	52288548	37	87682											
PHF2	5253	broad.mit.edu	37	chr9	96408047	96408047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggcccccacgttctatGtcagtgacgtcgagaactac	8	9	9	15	4	2	2	1	1	1	1	4	3	3	2	3	1	2	1	3	1	3	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr9:96408047G>A	ENST00000359246.4	+	4	803	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	146					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CACGTTCTATGTCAGTGACGT	0.622													15	70					0	0	0	0	A	96408047	G	A	96408047	3	1	447	1	0	0	0	0	1	0	0	0	11902	1377	48	4	450	4	PHF2	9	96408047	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	7483164	96408047	44805384	38	87683											
MRRF	92399	broad.mit.edu	37	chr9	125047560	125047560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggtgaatatggccagcttCccagaggtaagatggccttg	9	11	13	8	0	0	3	0	1	0	2	1	3	1	3	3	4	1	2	3	4	3	5			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr9:125047560C>T	ENST00000344641.3	+	4	764	c.453C>T	c.(451-453)ttC>ttT	p.F151F	MRRF_ENST00000373723.4_Silent_p.F151F|MRRF_ENST00000373727.1_Silent_p.F151F|MRRF_ENST00000373728.1_Silent_p.F151F|MRRF_ENST00000297908.3_Silent_p.F99F|MRRF_ENST00000373729.1_Silent_p.F107F|MRRF_ENST00000394315.3_Silent_p.F151F|MRRF_ENST00000373730.3_Silent_p.F151F|MRRF_ENST00000546115.1_Silent_p.F151F	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	151					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TGGCCAGCTTCCCAGAGGTAA	0.478													7	100					0	0	0	0	T	125047560	C	T	125047560	2	4	447	1	0	0	0	0	0	0	0	1	9920	854	30	2		2	MRRF	9	125047560	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	28639513	125047560	16165871	39	87684											
CRAT	1384	broad.mit.edu	37	chr9	131862836	131862836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccgctgttgagcctgctgCcgcccccatgcagcatctgg	4	9	12	16	2	1	1	0	1	1	0	1	1	1	1	5	1	6	5	5	1	0	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr9:131862836C>T	ENST00000318080.2	-	7	1232	c.938G>A	c.(937-939)gGc>gAc	p.G313D		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	313					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GAGCCTGCTGCCGCCCCCATG	0.627													18	50					0	0	0	0	T	131862836	C	T	131862836	3	4	447	1	0	0	0	0	1	0	0	0	3877	739	26	4	974	4	CRAT	9	131862836	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	6815276	131862836	9350595	40	87685											
YME1L1	10730	broad.mit.edu	37	chr10	27408260	27408261	+	Frame_Shift_Ins	INS	-	-	A																															tggaaaactccagctccttcINSatggtaaccatttcttttcc																										TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr10:27408260_27408261insA	ENST00000326799.3	-	15	1848_1849	c.1700_1701insT	c.(1699-1701)aaafs	p.K567fs	YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.K477fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.K510fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	567					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCAGCTCCTTCATGGTAACCAT	0.386													26	120	---	---	---	---					A	27408261	-	A	27408260	7	5	447	1	0	1	1	0	0	0	0	0	17583	826	29	0	644	0	YME1L1	10	27408260	Frame_Shift_Ins	INS	-	TCGA-MT-A51W-01A-21D-A25Y-08		27408260	108126487	41	87686											
CHAT	1103	broad.mit.edu	37	chr10	50863262	50863262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtgagagccgtgactGaccacaaggctgctgtgcca	8	10	12	11	1	0	3	0	3	0	1	0	4	0	3	3	1	3	2	3	1	1	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr10:50863262G>T	ENST00000395562.2	+	13	1979	c.1510G>T	c.(1510-1512)Gac>Tac	p.D504Y	CHAT_ENST00000351556.3_Missense_Mutation_p.D468Y|CHAT_ENST00000455728.2_Missense_Mutation_p.D468Y|CHAT_ENST00000339797.1_Missense_Mutation_p.D468Y|CHAT_ENST00000337653.2_Missense_Mutation_p.D586Y|CHAT_ENST00000395559.2_Missense_Mutation_p.D468Y	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	586					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGCCGTGACTGACCACAAGGC	0.637													10	116					2.17888e-05	2.30338e-05	1	0	T	50863262	G	T	50863262	3	4	447	1	0	0	0	0	1	0	0	0	3342	1290	45	2	1846	2	CHAT	10	50863262	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	23455002	50863262	84671485	42	87687											
PLCE1	51196	broad.mit.edu	37	chr10	96012146	96012146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcagacggtggagtgctcGaaaccccagccccggaacat	10	5	13	13	3	0	1	0	0	0	1	1	4	0	3	4	4	4	2	4	4	2	0			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr10:96012146G>A	ENST00000260766.3	+	9	3804	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.R749Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R749Q|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1057Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1057					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAGTGCTCGAAACCCCAGC	0.502													6	48					0	0	0	0	A	96012146	G	A	96012146	3	1	447	1	0	0	0	0	1	0	0	0	12106	1058	37	1	3486	1	PLCE1	10	96012146	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	45148884	96012146	39522601	43	87688											
PTPRE	5791	broad.mit.edu	37	chr10	129866487	129866487	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacccccattgggatgctgaAgttcctcaagaaagtaaaga	14	9	9	9	0	1	3	1	1	0	2	2	4	2	4	3	1	2	3	3	1	6	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr10:129866487A>T	ENST00000254667.3	+	12	1223	c.944A>T	c.(943-945)aAg>aTg	p.K315M	PTPRE_ENST00000306042.5_Missense_Mutation_p.K257M|PTPRE_ENST00000419012.2_Missense_Mutation_p.K315M	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	315	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGGATGCTGAAGTTCCTCAAG	0.632													11	56					0	0	0	0	T	129866487	A	T	129866487	3	4	447	1	0	0	0	0	1	0	0	0	12882	72	3	5	1021	5	PTPRE	10	129866487	Missense_Mutation	SNP	A	TCGA-MT-A51W-01A-21D-A25Y-08	33854341	129866487	5668260	44	87689											
MRPL23	6150	broad.mit.edu	37	chr11	1977596	1977596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgaggaggagaggcagcaGaggcagagcagcgacccgcg	11	1	18	11	4	0	3	0	0	0	3	1	7	0	4	1	4	3	4	1	4	0	0			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr11:1977596G>C	ENST00000397298.3	+	5	493	c.408G>C	c.(406-408)caG>caC	p.Q136H	MRPL23_ENST00000381519.1_Missense_Mutation_p.Q136H|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381514.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	136					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGAGGCAGCAGAGGCAGAGCA	0.677													6	65					0	0	0	0	C	1977596	G	C	1977596	3	2	447	1	0	0	0	0	1	0	0	0	9859	933	33	2	426	2	MRPL23	11	1977596	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		1977596	133028920	45	87690											
OR10AG1	282770	broad.mit.edu	37	chr11	55735289	55735289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctggctgatgacaatttCaaaatgttggagataatttt	12	15	8	6	0	2	3	1	2	1	1	2	4	2	3	1	2	0	2	1	2	4	5			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr11:55735289C>G	ENST00000312345.2	-	1	701	c.651G>C	c.(649-651)ttG>ttC	p.L217F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGACAATTTCAAAATGTTGG	0.393													7	78					0	0	0	0	G	55735289	C	G	55735289	3	3	447	1	0	0	0	0	1	0	0	0	10968	825	29	2	257	2	OR10AG1	11	55735289	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	53757693	55735289	79271227	46	87691											
AHNAK	79026	broad.mit.edu	37	chr11	62290779	62290779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcccttgatgtccacctCagggccttttagatcacctt	6	12	10	13	0	2	2	2	1	0	1	3	2	3	2	5	3	0	0	5	3	1	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr11:62290779C>G	ENST00000378024.4	-	5	11384	c.11110G>C	c.(11110-11112)Gag>Cag	p.E3704Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3704					nervous system development	nucleus	protein binding			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)				ATGTCCACCTCAGGGCCTTTT	0.473													20	231					0	0	0	0	G	62290779	C	G	62290779	3	3	447	1	0	0	0	0	1	0	0	0	414	835	29	2	6682	2	AHNAK	11	62290779	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	6555490	62290779	72715737	47	87692											
AHNAK	79026	broad.mit.edu	37	chr11	62291089	62291089	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttcactttgggcatcttCagatgccagtctggaccatg	8	14	9	10	0	4	1	2	0	2	1	4	2	4	2	2	2	1	1	2	2	0	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr11:62291089C>G	ENST00000378024.4	-	5	11074	c.10800G>C	c.(10798-10800)ctG>ctC	p.L3600L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3600					nervous system development	nucleus	protein binding			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)				TGGGCATCTTCAGATGCCAGT	0.483													31	275					0	0	0	0	G	62291089	C	G	62291089	2	3	447	1	0	0	0	0	0	0	0	1	414	813	29	2		2	AHNAK	11	62291089	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	310	62291089	72715427	48	87693											
AHNAK	79026	broad.mit.edu	37	chr11	62299999	62299999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaacgtgggcattttcatCttgggcattttcaggttcca	7	15	10	9	1	3	1	2	1	1	0	4	1	4	1	1	3	1	3	1	3	1	6			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr11:62299999C>G	ENST00000378024.4	-	5	2164	c.1890G>C	c.(1888-1890)aaG>aaC	p.K630N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	630					nervous system development	nucleus	protein binding			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)				GCATTTTCATCTTGGGCATTT	0.507													12	139					0	0	0	0	G	62299999	C	G	62299999	3	3	447	1	0	0	0	0	1	0	0	0	414	912	32	2	15902	2	AHNAK	11	62299999	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	8910	62299999	72706517	49	87694											
CASP5	838	broad.mit.edu	37	chr11	104879599	104879599	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatagatgtttgtccagccAcgttgttctttagcatgtgg	7	15	12	7	1	1	1	0	0	1	1	2	2	2	2	2	2	2	4	2	2	2	6			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr11:104879599A>C	ENST00000393141.2	-	2	186	c.155T>G	c.(154-156)gTg>gGg	p.V52G	CASP5_ENST00000418434.1_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.V39G|CASP5_ENST00000526056.1_Missense_Mutation_p.V52G|CASP5_ENST00000393139.2_Missense_Mutation_p.V6G|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000531367.1_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	39					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTGTCCAGCCACGTTGTTCTT	0.373													21	77					0	0	0	0	C	104879599	A	C	104879599	3	2	447	1	0	0	0	0	1	0	0	0	2699	159	6	5	1220	5	CASP5	11	104879599	Missense_Mutation	SNP	A	TCGA-MT-A51W-01A-21D-A25Y-08	42579600	104879599	30126917	50	87695											
WNK1	65125	broad.mit.edu	37	chr12	994643	994643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcctggagcaggagtgtCtagttatatttctcagcctg	7	14	10	10	0	3	0	1	0	3	0	5	2	3	2	2	2	2	2	2	2	3	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr12:994643C>G	ENST00000537687.1	+	19	6096	c.5453C>G	c.(5452-5454)tCt>tGt	p.S1818C	WNK1_ENST00000530271.2_Missense_Mutation_p.S2056C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1311C|WNK1_ENST00000315939.6_Missense_Mutation_p.S1558C|WNK1_ENST00000340908.4_Missense_Mutation_p.S1151C	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1558					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAGGAGTGTCTAGTTATATT	0.483													89	409					0	0	0	0	G	994643	C	G	994643	3	3	447	1	0	0	0	0	1	0	0	0	17473	913	32	2	6249	2	WNK1	12	994643	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08		994643	132857252	51	87696											
EMG1	10436	broad.mit.edu	37	chr12	7084997	7084997	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaacctgttctgaaaccAgaaactgttgatgtcacatc	13	11	8	9	0	2	4	1	2	1	2	3	4	2	4	2	0	3	3	2	0	4	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr12:7084997A>G	ENST00000546220.1	+	0	791				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TTCTGAAACCAGAAACTGTTG	0.493													13	75					0	0	0	0	G	7084997	A	G	7084997	1	3	447	0	1	0	0	0	0	0	0	0	5128	203	7	5		5	EMG1	12	7084997	RNA	SNP	A	TCGA-MT-A51W-01A-21D-A25Y-08	6090354	7084997	126766898	52	87697											
PRB2	653247	broad.mit.edu	37	chr12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-																															gtggtccttgtggctttcctGgaggaggtgggggaccttga																										TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cca>cc	p.PP74del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601													7	566	---	---	---	---					-	11546790	GGA	-	11546788	7	5	447	1	0	1	0	1	0	0	0	0	12523	1348	47	0	1030	0	PRB2	12	11546788	In_Frame_Del	DEL	GGA	TCGA-MT-A51W-01A-21D-A25Y-08	4461791	11546788	122305107	53	87698											
GRIN2B	2904	broad.mit.edu	37	chr12	13768577	13768577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcattttttgatgtaaccCggctcctcgtctgttttatt	6	18	7	10	2	1	1	0	1	1	0	3	1	2	1	2	1	2	4	2	1	2	7			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr12:13768577C>T	ENST00000279593.3	-	6	1559	c.1350G>A	c.(1348-1350)ccG>ccA	p.P450P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	450					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P450P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATGTAACCCGGCTCCTCGT	0.353													40	175					0	0	0	0	T	13768577	C	T	13768577	2	4	447	1	0	0	0	0	0	0	0	1	6830	639	23	1		1	GRIN2B	12	13768577	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	2221789	13768577	120083318	54	87699											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112323725	112323725	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttttctccacaggctccTgaaggtcaaaccggaggaga	10	8	12	11	2	2	2	1	1	1	1	4	4	3	3	3	4	1	2	3	4	2	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr12:112323725T>A	ENST00000550735.2	+	10	1610	c.854T>A	c.(853-855)cTg>cAg	p.L285Q	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L285Q	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	285	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CACAGGCTCCTGAAGGTCAAA	0.552													10	60					0	0	0	0	A	112323725	T	A	112323725	3	1	447	1	0	0	0	0	1	0	0	0	9360	1580	55	5	892	5	MAPKAPK5	12	112323725	Missense_Mutation	SNP	T	TCGA-MT-A51W-01A-21D-A25Y-08	98555148	112323725	21528170	55	87700											
NOS1	4842	broad.mit.edu	37	chr12	117710243	117710243	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcggacaccaatctctgTgcccatgtaccagccactga	9	8	9	15	2	1	1	0	1	1	0	3	2	1	2	4	1	3	1	4	1	2	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr12:117710243T>A	ENST00000317775.6	-	10	2471	c.1786A>T	c.(1786-1788)Aca>Tca	p.T596S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.T596S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	596					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAATCTCTGTGCCCATGTAC	0.592													13	57					0	0	0	0	A	117710243	T	A	117710243	3	1	447	1	0	0	0	0	1	0	0	0	10611	1696	59	5	2598	5	NOS1	12	117710243	Missense_Mutation	SNP	T	TCGA-MT-A51W-01A-21D-A25Y-08	5386518	117710243	16141652	56	87701											
DHRS4	10901	broad.mit.edu	37	chr14	24424399	24424400	+	Frame_Shift_Ins	INS	-	-	C																															catgtggggaaggcggaggaINSccgggagcggctggtggcca																										TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr14:24424399_24424400insC	ENST00000313250.5	+	2	487_488	c.284_285insC	c.(283-285)gcgfs	p.A95fs	DHRS4_ENST00000558581.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000558263.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000397073.2_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000543741.2_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000421831.1_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000397074.3_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000397075.3_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000559632.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000308178.8_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000382761.3_Frame_Shift_Ins_p.A77fs	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	95						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	AAGGCGGAGGACCGGGAGCGGC	0.668													7	51	---	---	---	---					C	24424400	-	C	24424399	7	5	447	1	0	1	1	0	0	0	0	0	4529	275	10	0	290	0	DHRS4	14	24424399	Frame_Shift_Ins	INS	-	TCGA-MT-A51W-01A-21D-A25Y-08		24424399	82925141	57	87702											
ARID4A	5926	broad.mit.edu	37	chr14	58830908	58830908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcttgttcatctgatagtGaaacagaagatgctttagaa	14	13	8	6	0	3	5	1	2	2	3	3	5	3	5	0	0	2	2	0	0	5	5			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr14:58830908G>A	ENST00000355431.3	+	20	2474	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	ARID4A_ENST00000348476.3_Missense_Mutation_p.E701K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E701K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E701K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	701					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCTGATAGTGAAACAGAAGA	0.234													11	68					0	0	0	0	A	58830908	G	A	58830908	3	1	447	1	0	0	0	0	1	0	0	0	921	1291	45	2	2175	2	ARID4A	14	58830908	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	34406509	58830908	48518632	58	87703											
DACT1	51339	broad.mit.edu	37	chr14	59113480	59113480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgtgcctctgccctaCgccagcccctacgcctacgt	4	8	9	20	4	1	0	0	0	1	0	1	0	1	0	7	0	6	0	7	0	3	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr14:59113480C>T	ENST00000395153.3	+	4	2175	c.2028C>T	c.(2026-2028)taC>taT	p.Y676Y	DACT1_ENST00000395151.3_Silent_p.Y432Y|DACT1_ENST00000556859.1_Silent_p.Y432Y|DACT1_ENST00000541264.2_Silent_p.Y432Y|DACT1_ENST00000335867.4_Silent_p.Y713Y	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	713					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTCTGCCCTACGCCAGCCCCT	0.672													14	64					0	0	0	0	T	59113480	C	T	59113480	2	4	447	1	0	0	0	0	0	0	0	1	4255	547	19	1		1	DACT1	14	59113480	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	282572	59113480	48236060	59	87704											
UBR7	55148	broad.mit.edu	37	chr14	93693350	93693350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtcaaaaaagagaagaaGagtggatgggatgcagtatt	17	8	13	3	0	2	3	2	0	0	3	2	6	2	5	0	2	1	2	0	2	6	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr14:93693350G>C	ENST00000013070.6	+	11	1483	c.1247G>C	c.(1246-1248)aGa>aCa	p.R416T	UBR7_ENST00000416753.1_Missense_Mutation_p.R340T	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	416							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAGAGAAGAAGAGTGGATGGG	0.383													9	39					0	0	0	0	C	93693350	G	C	93693350	3	2	447	1	0	0	0	0	1	0	0	0	17002	942	33	2	1289	2	UBR7	14	93693350	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	34579870	93693350	13656190	60	87705											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658664	43658664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagggtccggaggaagccaTattccctgagccgctcagcc	8	6	12	15	2	1	1	1	1	0	0	3	3	3	3	6	3	3	1	6	3	2	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr15:43658664T>C	ENST00000396976.2	-	3	1000	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Y288C|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	289					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGGAAGCCATATTCCCTGAG	0.557													12	95					0	0	0	0	C	43658664	T	C	43658664	3	2	447	1	0	0	0	0	1	0	0	0	18327	1406	49	5	1704	5	ZSCAN29	15	43658664	Missense_Mutation	SNP	T	TCGA-MT-A51W-01A-21D-A25Y-08		43658664	58872728	61	87706											
VPS13C	54832	broad.mit.edu	37	chr15	62257047	62257047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcagcaacagatttaaaGatgaaaaggccacctaaaaa	19	8	7	7	0	0	3	0	1	0	2	0	3	0	3	2	1	3	2	2	1	8	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr15:62257047G>C	ENST00000261517.5	-	31	3138	c.3065C>G	c.(3064-3066)tCt>tGt	p.S1022C	VPS13C_ENST00000395896.4_Missense_Mutation_p.S1022C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S979C|VPS13C_ENST00000249837.3_Missense_Mutation_p.S979C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1022					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGATTTAAAGATGAAAAGGC	0.378													10	82					0	0	0	0	C	62257047	G	C	62257047	3	2	447	1	0	0	0	0	1	0	0	0	17287	942	33	2	8444	2	VPS13C	15	62257047	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	18598383	62257047	40274345	62	87707											
HERC1	8925	broad.mit.edu	37	chr15	64010891	64010891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataagtgtttaccaggttgaTatctaaatgaagaaccaaaa	18	11	7	5	0	1	3	0	2	1	1	1	3	1	3	2	1	2	2	2	1	9	6			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr15:64010891T>C	ENST00000443617.2	-	21	3947	c.3860A>G	c.(3859-3861)tAt>tGt	p.Y1287C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1287					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACCAGGTTGATATCTAAATGA	0.353													7	35					0	0	0	0	C	64010891	T	C	64010891	3	2	447	1	0	0	0	0	1	0	0	0	7107	1406	49	5	10957	5	HERC1	15	64010891	Missense_Mutation	SNP	T	TCGA-MT-A51W-01A-21D-A25Y-08	1753844	64010891	38520501	63	87708											
SNRNP25	79622	broad.mit.edu	37	chr16	107117	107117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatcgagacgaggtttccTtcatcaaaaagctgaggcaa	14	8	11	8	2	2	2	2	1	0	1	4	5	3	3	1	3	1	3	1	3	4	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr16:107117T>C	ENST00000383018.3	+	5	534	c.373T>C	c.(373-375)Ttc>Ctc	p.F125L		NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	125	Ubiquitin-like.				mRNA processing	U12-type spliceosomal complex				large_intestine(1)|lung(2)	3						CGAGGTTTCCTTCATCAAAAA	0.507													37	150					0	0	0	0	C	107117	T	C	107117	3	2	447	1	0	0	0	0	1	0	0	0	14941	1609	56	5	391	5	SNRNP25	16	107117	Missense_Mutation	SNP	T	TCGA-MT-A51W-01A-21D-A25Y-08		107117	90247636	64	87709											
SRCAP	10847	broad.mit.edu	37	chr16	30750523	30750523	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagagtgagggtagttcCtctgatgaggatggaagccg	9	8	19	5	1	1	4	0	3	1	1	2	7	2	6	2	5	1	2	2	5	2	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr16:30750523C>G	ENST00000262518.4	+	34	9547	c.9162C>G	c.(9160-9162)tcC>tcG	p.S3054S	SRCAP_ENST00000395059.2_Silent_p.S2992S|SRCAP_ENST00000344771.4_Silent_p.S2896S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3054					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGGTAGTTCCTCTGATGAGG	0.632													12	48					0	0	0	0	G	30750523	C	G	30750523	2	3	447	1	0	0	0	0	0	0	0	1	15225	668	24	4		4	SRCAP	16	30750523	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	30643406	30750523	59604230	65	87710											
C16orf58	64755	broad.mit.edu	37	chr16	31504971	31504971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttgggtcgagtaccTctcccctctgaaggtagtgc	6	11	12	12	1	2	1	0	1	2	0	4	2	2	1	3	2	3	4	3	2	3	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr16:31504971T>A	ENST00000327237.2	-	8	950	c.911A>T	c.(910-912)gAg>gTg	p.E304V	C16orf58_ENST00000430477.2_Missense_Mutation_p.E162V|C16orf58_ENST00000570164.1_Missense_Mutation_p.E302V|C16orf58_ENST00000567994.1_Missense_Mutation_p.E259V			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	304						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GTCGAGTACCTCTCCCCTCTG	0.627													5	56					0	0	0	0	A	31504971	T	A	31504971	3	1	447	1	0	0	0	0	1	0	0	0	1835	1551	54	5	519	5	C16orf58	16	31504971	Missense_Mutation	SNP	T	TCGA-MT-A51W-01A-21D-A25Y-08	754448	31504971	58849782	66	87711											
TP53	7157	broad.mit.edu	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	10	10	12	9	1	0	0	0	0	0	0	0	2	0	2	2	2	3	5	2	2	4	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)		CAGGAACTGTTACACATGTAG	0.572		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)			18	30					0	0	0	0	C	7577566	T	C	7577566	3	2	447	1	0	0	0	0	1	0	0	0	16476	1754	61	5	575	5	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-MT-A51W-01A-21D-A25Y-08		7577566	73617644	67	87712											
DLX3	1747	broad.mit.edu	37	chr17	48072347	48072347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctgagcttgcgatCgaaggagccactcatcctgg	8	9	13	11	2	1	1	1	1	0	0	3	5	2	2	2	2	5	3	2	2	1	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr17:48072347C>A	ENST00000434704.2	-	1	241	c.16G>T	c.(16-18)Gat>Tat	p.D6Y		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AGCTTGCGATCGAAGGAGCCA	0.647													5	30					0.00116845	0.0012009	1	0	A	48072347	C	A	48072347	3	1	447	1	0	0	0	0	1	0	0	0	4609	884	31	3	859	3	DLX3	17	48072347	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	40494781	48072347	33122863	68	87713											
AP3D1	8943	broad.mit.edu	37	chr19	2132553	2132553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcagtgcaacacctgtgtCgtactggctggggctgctca	6	10	13	12	2	2	0	2	0	0	0	3	0	2	0	1	3	4	5	1	3	2	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:2132553C>T	ENST00000355272.6	-	5	585	c.379G>A	c.(379-381)Gac>Aac	p.D127N	AP3D1_ENST00000356926.4_Missense_Mutation_p.D127N|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.D127N	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	127					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		ACACCTGTGTCGTACTGGCTG	0.597													9	83					0	0	0	0	T	2132553	C	T	2132553	3	4	447	1	0	0	0	0	1	0	0	0	747	884	31	1	3344	1	AP3D1	19	2132553	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08		2132553	56996430	69	87714											
MUC16	94025	broad.mit.edu	37	chr19	9089203	9089203	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggttgagacacagatggaTtcgaagtttcctctgtttct	9	14	10	8	1	2	2	0	1	2	2	4	5	3	3	1	2	0	3	1	2	1	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:9089203T>C	ENST00000397910.4	-	1	2815	c.2612A>G	c.(2611-2613)aAt>aGt	p.N871S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	871	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACAGATGGATTCGAAGTTTC	0.488													10	62					0	0	0	0	C	9089203	T	C	9089203	3	2	447	1	0	0	0	0	1	0	0	0	10043	1493	52	5	41247	5	MUC16	19	9089203	Missense_Mutation	SNP	T	TCGA-MT-A51W-01A-21D-A25Y-08	6956650	9089203	50039780	70	87715											
SLC5A5	6528	broad.mit.edu	37	chr19	17983383	17983383	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcctatcgctatggcctCaagttcctctggatgtgcct	6	12	11	12	1	2	0	1	0	1	0	4	2	3	1	4	3	1	2	4	3	3	3			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:17983383C>G	ENST00000222248.3	+	1	602	c.255C>G	c.(253-255)ctC>ctG	p.L85L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	85					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTATGGCCTCAAGTTCCTCT	0.672													7	19					0	0	0	0	G	17983383	C	G	17983383	2	3	447	1	0	0	0	0	0	0	0	1	14756	813	29	2		2	SLC5A5	19	17983383	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	8894180	17983383	41145600	71	87716											
CEACAM6	4680	broad.mit.edu	37	chr19	42260722	42260722	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaagctaccccagggccCgcatacagtggtcgagagac	12	4	11	14	2	0	1	0	0	0	1	1	3	0	1	3	2	4	2	3	2	4	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:42260722C>A	ENST00000199764.6	+	2	497	c.279C>A	c.(277-279)ccC>ccA	p.P93P	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	93	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCCAGGGCCCGCATACAGTG	0.458													23	251					5.26018e-13	5.78099e-13	1	0	A	42260722	C	A	42260722	2	1	447	1	0	0	0	0	0	0	0	1	3225	639	23	3		3	CEACAM6	19	42260722	Silent	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	24277339	42260722	16868261	72	87717											
SPHK2	56848	broad.mit.edu	37	chr19	49129133	49129133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaattctcaccccttctctCctcccttcccacagaggcca	7	11	4	19	0	2	2	1	1	2	1	7	2	5	2	6	1	0	0	6	1	1	3	rs76628003	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:49129133C>T	ENST00000443164.1	+	1	916	c.211C>T	c.(211-213)Cct>Tct	p.P71S	SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000600537.1_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	451	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCCTTCTCTCCTCCCTTCCC	0.677													4	16					0	0	0	0	T	49129133	C	T	49129133	3	4	447	1	0	0	0	0	1	0	0	0	15137	870	30	2		2	SPHK2	19	49129133	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	6868411	49129133	9999850	73	87718											
SPHK2	56848	broad.mit.edu	37	chr19	49131018	49131018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatccctttgggggtcgggGcctggcctggcagtggtgta	4	10	17	10	1	0	0	0	0	0	0	2	0	1	0	3	7	0	2	3	7	2	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:49131018G>A	ENST00000443164.1	+	2	1472	c.767G>A	c.(766-768)gGc>gAc	p.G256D	SPHK2_ENST00000601712.1_Missense_Mutation_p.G158D|SPHK2_ENST00000598088.1_Missense_Mutation_p.G194D|SPHK2_ENST00000340932.3_Missense_Mutation_p.G158D|SPHK2_ENST00000599029.1_Missense_Mutation_p.G158D|SPHK2_ENST00000599748.1_Missense_Mutation_p.G158D|SPHK2_ENST00000245222.4_Missense_Mutation_p.G194D|SPHK2_ENST00000600537.1_Missense_Mutation_p.G135D			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	194	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	p.G194D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGGTCGGGGCCTGGCCTGG	0.592													32	114					0	0	0	0	A	49131018	G	A	49131018	3	1	447	1	0	0	0	0	1	0	0	0	15137	1203	42	4	591	4	SPHK2	19	49131018	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	1885	49131018	9997965	74	87719											
ZNF175	7728	broad.mit.edu	37	chr19	52076481	52076481	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagtacgactctccgcCgtgtccctggttggaaaatc	8	9	10	14	3	1	0	0	0	1	0	4	2	2	1	4	2	2	2	4	2	3	2	rs2305371	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:52076481C>A	ENST00000262259.2	+	0	257				ZNF175_ENST00000596504.1_De_novo_Start_OutOfFrame|ZNF175_ENST00000545217.1_De_novo_Start_OutOfFrame	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175						response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GACTCTCCGCCGTGTCCCTGG	0.527													5	64					1.23904e-05	1.32244e-05	1	0	A	52076481	C	A	52076481	1	1	447	1	0	0	0	0	0	0	0	0	17840	667	23	3		3	ZNF175	19	52076481	Translation_Start_Site	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	2945463	52076481	7052502	75	87720											
ZNF614	80110	broad.mit.edu	37	chr19	52519999	52519999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcacatataggatttCtcttctgtatgggtttgttg	7	18	9	7	0	3	0	1	0	2	0	4	1	3	1	0	2	1	4	0	2	3	7			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:52519999C>A	ENST00000270649.6	-	5	1396	c.852G>T	c.(850-852)gaG>gaT	p.E284D	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TATAGGATTTCTCTTCTGTAT	0.383													29	98					4.22769e-11	4.60073e-11	1	0	A	52519999	C	A	52519999	3	1	447	1	0	0	0	0	1	0	0	0	18134	912	32	2	909	2	ZNF614	19	52519999	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08	443518	52519999	6608984	76	87721											
ZNF616	90317	broad.mit.edu	37	chr19	52618995	52618995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagtcgtgaatgtatgctGaaaactttgccacattcatt	12	13	8	8	1	1	2	1	2	0	0	2	2	1	2	1	0	3	3	1	0	5	4			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr19:52618995G>A	ENST00000600228.1	-	4	1683	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AATGTATGCTGAAAACTTTGC	0.413													19	145					0	0	0	0	A	52618995	G	A	52618995	2	1	447	1	0	0	0	0	0	0	0	1	18136	1281	45	2		2	ZNF616	19	52618995	Silent	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08	98996	52618995	6509988	77	87722											
GNAS	2778	broad.mit.edu	37	chr20	57429935	57429935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccgagatccaggctgccGatccgcctactccgcggcct	5	6	11	19	5	0	1	0	0	0	1	3	3	3	1	8	2	2	1	8	2	1	1			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr20:57429935G>A	ENST00000371100.4	+	1	2167	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D539N|GNAS_ENST00000306120.3_Silent_p.P475P|GNAS_ENST00000371102.4_Missense_Mutation_p.D539N|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCAGGCTGCCGATCCGCCTAC	0.726			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			3	7					0	0	0	0	A	57429935	G	A	57429935	3	1	447	1	0	0	0	0	1	0	0	0	6561	1058	37	1	2359	1	GNAS	20	57429935	Missense_Mutation	SNP	G	TCGA-MT-A51W-01A-21D-A25Y-08		57429935	5595585	78	87723											
APOL1	8542	broad.mit.edu	37	chr22	36653381	36653381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caagggtgcaacaaaacgttCcaagtgggacagatactgga	15	6	12	8	1	0	1	0	0	0	1	1	3	1	3	1	3	4	2	1	3	6	2			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644AD1BE-542B-4DDC-AF21-4F091E53E576	EC0C9BB4-63CF-4FA4-88AD-DB1B39A86312	g.chr22:36653381C>G	ENST00000319136.4	+	5	430	c.163C>G	c.(163-165)Cca>Gca	p.P55A	APOL1_ENST00000397279.4_Missense_Mutation_p.P39A|APOL1_ENST00000440669.2_Missense_Mutation_p.P39A|APOL1_ENST00000426053.1_Missense_Mutation_p.P21A|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000397278.3_Missense_Mutation_p.P39A|APOL1_ENST00000422706.1_Missense_Mutation_p.P39A	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	39					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ACAAAACGTTCCAAGTGGGAC	0.562													12	62					0	0	0	0	G	36653381	C	G	36653381	3	3	447	1	0	0	0	0	1	0	0	0	807	855	30	2	177	2	APOL1	22	36653381	Missense_Mutation	SNP	C	TCGA-MT-A51W-01A-21D-A25Y-08		36653381	14651185	79	87724											
CAMTA1	23261	broad.mit.edu	37	chr1	7724087	7724087	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttccttaataacccaaagCagggccagacgtacgggggt	11	8	12	10	2	0	1	0	0	0	1	1	1	1	1	3	3	3	3	3	3	4	4			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:7724087C>T	ENST00000303635.7	+	9	1687	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Q494*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TAACCCAAAGCAGGGCCAGAC	0.597			T	WWTR1	epitheliod hemangioendothelioma								20	79					0	0	0	0	T	7724087	C	T	7724087	4	4	448	1	0	0	0	0	0	1	0	0	2638	711	25	4	1514	4	CAMTA1	1	7724087	Nonsense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		7724087	241526534	1	87725											
ARHGEF19	128272	broad.mit.edu	37	chr1	16531390	16531390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatgccgaaccagccagcGggcctgagagatcagcggga	10	4	14	13	3	1	2	1	1	0	1	2	5	2	3	5	2	5	0	5	2	1	0			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:16531390G>A	ENST00000270747.3	-	12	1907	c.1771C>T	c.(1771-1773)Cgc>Tgc	p.R591C	ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	591					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCCAGCGGGCCTGAGAG	0.607													5	5					0	0	0	0	A	16531390	G	A	16531390	3	1	448	1	0	0	0	0	1	0	0	0	904	1116	39	1	657	1	ARHGEF19	1	16531390	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	8807303	16531390	232719231	2	87726											
CSMD2	114784	broad.mit.edu	37	chr1	34068082	34068082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctgggagctggagtaCgggctagggaaccccgggga	8	5	18	10	2	0	0	0	0	0	0	1	4	1	4	3	6	3	3	3	6	3	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:34068082C>T	ENST00000373381.4	-	43	6773	c.6597G>A	c.(6595-6597)ccG>ccA	p.P2199P	CSMD2_ENST00000373380.1_Silent_p.P1072P|CSMD2_ENST00000373377.1_Silent_p.P298P|CSMD2_ENST00000373388.2_Silent_p.P298P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2201	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCTGGAGTACGGGCTAGGGA	0.612													8	31					0	0	0	0	T	34068082	C	T	34068082	2	4	448	1	0	0	0	0	0	0	0	1	3977	523	19	1		1	CSMD2	1	34068082	Silent	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	17536692	34068082	215182539	3	87727											
PTPRF	5792	broad.mit.edu	37	chr1	44044558	44044558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccaactcggcaggcacaCgttactcagcccctgcgaac	10	5	9	17	4	1	0	1	0	0	0	2	2	1	0	3	2	5	3	3	2	3	1			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:44044558C>T	ENST00000359947.4	+	7	986	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	PTPRF_ENST00000372413.3_Missense_Mutation_p.R216C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R216C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R216C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	216	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCAGGCACACGTTACTCAGC	0.607													4	33					0	0	0	0	T	44044558	C	T	44044558	3	4	448	1	0	0	0	0	1	0	0	0	12883	536	19	1	664	1	PTPRF	1	44044558	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	9976476	44044558	205206063	4	87728											
DAB1	1600	broad.mit.edu	37	chr1	57476820	57476820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaaactggtcacttacagCttcttgctcttcgcttttgc	8	15	6	12	1	3	0	1	0	2	0	4	0	3	0	0	1	6	3	0	1	3	6			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:57476820C>A	ENST00000371236.2	-	13	1833	c.1570G>T	c.(1570-1572)Gct>Tct	p.A524S	DAB1_ENST00000439789.2_Missense_Mutation_p.A438S|DAB1_ENST00000371234.4_Missense_Mutation_p.A524S|DAB1_ENST00000420954.2_Missense_Mutation_p.A522S|DAB1_ENST00000414851.2_Missense_Mutation_p.A506S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.A557S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	557					cell differentiation|nervous system development					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						TCACTTACAGCTTCTTGCTCT	0.403													16	81					2.31682e-05	2.4095e-05	1	0	A	57476820	C	A	57476820	3	1	448	1	0	0	0	0	1	0	0	0	4250	797	28	4	105	4	DAB1	1	57476820	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	13432262	57476820	191773801	5	87729											
SLC6A17	388662	broad.mit.edu	37	chr1	110738332	110738332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcatcgtcatccttgaGaacatcgctgtggcctggat	8	12	9	12	2	2	1	2	1	1	1	6	3	3	2	2	2	1	1	2	2	1	1			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:110738332G>T	ENST00000331565.4	+	10	2102	c.1617G>T	c.(1615-1617)gaG>gaT	p.E539D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	539					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCATCCTTGAGAACATCGCTG	0.542													22	38					1.22574e-08	1.30969e-08	1	0	T	110738332	G	T	110738332	3	4	448	1	0	0	0	0	1	0	0	0	14768	933	33	2	1651	2	SLC6A17	1	110738332	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	53261512	110738332	138512289	6	87730											
MAGI3	260425	broad.mit.edu	37	chr1	114128119	114128119	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcagaatctcaaagaaaaCgaacgacatctgtcagcaag	18	6	8	9	2	3	2	2	0	2	2	4	4	3	2	0	0	4	2	0	0	6	0			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:114128119C>T	ENST00000369615.1	+	4	726	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R222*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.R222*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R222*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	222	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		TCAAAGAAAACGAACGACATC	0.458													6	56					0	0	0	0	T	114128119	C	T	114128119	4	4	448	1	0	0	0	0	0	1	0	0	9261	528	19	1	678	1	MAGI3	1	114128119	Nonsense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	3389787	114128119	135122502	7	87731											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							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										CAGGAACTTTGCTAAAGATCTA	0.386													3	3	---	---	---	---					C	145109976	-	C	145109975	6	5	448	0	1	1	1	0	0	0	0	0	14076	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-MT-A51X-01A-11D-A25Y-08	30981856	145109975	104140646	8	87732											
ITGA10	8515	broad.mit.edu	37	chr1	145536959	145536959	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcacccacctctatacAaaagctggtcagcagtgcca	11	7	9	14	0	3	0	2	0	1	0	3	0	3	0	3	2	4	3	3	2	4	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:145536959A>T	ENST00000369304.3	+	18	2514	c.2339A>T	c.(2338-2340)cAa>cTa	p.Q780L	ITGA10_ENST00000539363.1_Missense_Mutation_p.Q637L|ITGA10_ENST00000538811.1_Missense_Mutation_p.Q649L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	780					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCTCTATACAAAAGCTGGTC	0.537													22	86					0	0	0	0	T	145536959	A	T	145536959	3	4	448	1	0	0	0	0	1	0	0	0	7926	130	5	5	2409	5	ITGA10	1	145536959	Missense_Mutation	SNP	A	TCGA-MT-A51X-01A-11D-A25Y-08	426984	145536959	103713662	9	87733											
MRPL24	79590	broad.mit.edu	37	chr1	156708490	156708490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggccagcagggcagaaaGacgcatgcctggaggttgta	12	5	15	9	1	0	2	0	0	0	2	0	3	0	3	2	4	2	5	2	4	3	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:156708490G>A	ENST00000368211.4	-	2	145	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	MRPL24_ENST00000361531.2_Missense_Mutation_p.L3F	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	3					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGCAGAAAGACGCATGCCT	0.557													13	29					0	0	0	0	A	156708490	G	A	156708490	3	1	448	1	0	0	0	0	1	0	0	0	9860	942	33	2	663	2	MRPL24	1	156708490	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	11171531	156708490	92542131	10	87734											
UAP1	6675	broad.mit.edu	37	chr1	162557312	162557312	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttggagtggtttgccgAgtggatggagtttaccaggt	7	12	16	6	1	0	0	0	0	0	0	0	4	0	3	3	5	2	3	3	5	1	4			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:162557312A>G	ENST00000271469.3	+	6	1184	c.882A>G	c.(880-882)cgA>cgG	p.R294R	UAP1_ENST00000367924.1_Silent_p.R294R|UAP1_ENST00000367926.4_Silent_p.R294R|UAP1_ENST00000367925.1_Silent_p.R294R			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	294					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGTTTGCCGAGTGGATGGAG	0.458													42	74					0	0	0	0	G	162557312	A	G	162557312	2	3	448	1	0	0	0	0	0	0	0	1	16921	291	11	5		5	UAP1	1	162557312	Silent	SNP	A	TCGA-MT-A51X-01A-11D-A25Y-08	5848822	162557312	86693309	11	87735											
USH2A	7399	broad.mit.edu	37	chr1	215807838	215807838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggtaaacattcaatggaGacatcctcttctgaagaggt	12	11	11	7	0	3	3	1	1	2	2	4	4	4	3	1	3	1	1	1	3	4	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr1:215807838G>A	ENST00000366943.2	-	70	15646	c.15260C>T	c.(15259-15261)tCt>tTt	p.S5087F	USH2A_ENST00000307340.3_Missense_Mutation_p.S5087F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5087					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCAATGGAGACATCCTCTT	0.428										HNSCC(13;0.011)			16	56					0	0	0	0	A	215807838	G	A	215807838	3	1	448	1	0	0	0	0	1	0	0	0	17132	942	33	2	360	2	USH2A	1	215807838	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	53250526	215807838	33442783	12	87736											
PLB1	151056	broad.mit.edu	37	chr2	28812421	28812421	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatgccaaagacctcGgtaaagaaagcaagcatcgt	15	6	11	9	2	0	2	0	0	0	2	2	3	0	3	2	2	3	3	2	2	5	1			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr2:28812421G>A	ENST00000422425.2	+	26	1931	c.1887_splice	c.e26+1	p.S629_splice	PLB1_ENST00000327757.5_Splice_Site_p.S640_splice|PLB1_ENST00000329020.6_Splice_Site_p.S328_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	640	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAAGACCTCGGTAAAGAAAG	0.443													13	49					0	0	0	0	A	28812421	G	A	28812421	5	1	448	1	0	0	0	0	0	0	1	0	12096	1130	39	1	2059	1	PLB1	2	28812421	Splice_Site	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08		28812421	214386952	13	87737											
NRXN1	9378	broad.mit.edu	37	chr2	51255221	51255221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtagagcacgaggccgCgggcgctgcgagtcttgagc	8	5	17	11	6	1	2	0	1	1	1	1	5	1	2	1	2	3	3	1	2	2	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr2:51255221C>T	ENST00000404971.1	-	2	1530	c.191G>A	c.(190-192)cGc>cAc	p.R64H	NRXN1_ENST00000406316.2_Missense_Mutation_p.R64H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R64H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R64H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R64H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R64H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R64H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	64	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACGAGGCCGCGGGCGCTGCG	0.652													6	8					0	0	0	0	T	51255221	C	T	51255221	3	4	448	1	0	0	0	0	1	0	0	0	10736	768	27	1	4807	1	NRXN1	2	51255221	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	22442800	51255221	191944152	14	87738											
PNPT1	87178	broad.mit.edu	37	chr2	55874497	55874497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgccaaaatatctgtcagCaaacgataatcttctatttc	13	14	4	10	1	4	0	1	0	3	0	5	1	4	0	1	0	3	1	1	0	6	6			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr2:55874497C>T	ENST00000447944.2	-	19	1673	c.1587G>A	c.(1585-1587)ttG>ttA	p.L529L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	529					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATCTGTCAGCAAACGATAAT	0.313													10	56					0	0	0	0	T	55874497	C	T	55874497	2	4	448	1	0	0	0	0	0	0	0	1	12245	709	25	4		4	PNPT1	2	55874497	Silent	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	4619276	55874497	187324876	15	87739											
ST3GAL5	8869	broad.mit.edu	37	chr2	86071564	86071564	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaggctctgagtactgaagGatgtcaaaggcagtctcttt	10	12	12	7	0	3	3	1	3	2	0	4	4	3	4	0	3	1	3	0	3	3	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr2:86071564G>A	ENST00000377332.3	-	6	1071	c.963C>T	c.(961-963)atC>atT	p.I321I	ST3GAL5_ENST00000393805.1_Silent_p.I293I|ST3GAL5_ENST00000393808.3_Silent_p.I298I	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	321					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						AGTACTGAAGGATGTCAAAGG	0.438													7	55					0	0	0	0	A	86071564	G	A	86071564	2	1	448	1	0	0	0	0	0	0	0	1	15308	1164	41	2		2	ST3GAL5	2	86071564	Silent	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	30197067	86071564	157127809	16	87740											
ACSL3	2181	broad.mit.edu	37	chr2	223791815	223791815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcgctccactttctgcaaCcacgcagcgattcatgaaca	10	9	8	14	3	2	1	1	1	1	0	3	2	3	1	2	1	4	3	2	1	2	2	rs143664156		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr2:223791815C>A	ENST00000357430.3	+	12	1904	c.1373C>A	c.(1372-1374)aCc>aAc	p.T458N	ACSL3_ENST00000392066.3_Missense_Mutation_p.T458N	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	458					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CTTTCTGCAACCACGCAGCGA	0.473			T	ETV1	prostate								5	39					0.000602214	0.000618062	1	0	A	223791815	C	A	223791815	3	1	448	1	0	0	0	0	1	0	0	0	178	507	18	4	1407	4	ACSL3	2	223791815	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	137720251	223791815	19407558	17	87741											
BTD	686	broad.mit.edu	37	chr3	15686064	15686064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatctcatcacctttgataCcccctttgctggcaggtttg	6	14	9	12	0	2	1	2	1	1	0	3	2	2	2	3	3	2	3	3	3	1	4			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr3:15686064C>T	ENST00000383778.4	+	4	999	c.641C>T	c.(640-642)aCc>aTc	p.T214I	BTD_ENST00000449107.1_Missense_Mutation_p.T236I|BTD_ENST00000437172.1_Missense_Mutation_p.T236I|BTD_ENST00000303498.5_Missense_Mutation_p.T234I			P43251	BTD_HUMAN	biotinidase	234	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACCTTTGATACCCCCTTTGCT	0.453													8	78					0	0	0	0	T	15686064	C	T	15686064	3	4	448	1	0	0	0	0	1	0	0	0	1559	507	18	4	715	4	BTD	3	15686064	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		15686064	182336366	18	87742											
SLITRK3	22865	broad.mit.edu	37	chr3	164907641	164907641	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtttatttgaggacttGtattcgacagaagaagcagt	11	13	12	5	1	0	3	0	1	0	2	1	5	0	4	0	2	1	4	0	2	4	6			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr3:164907641G>T	ENST00000475390.1	-	2	1421	c.978C>A	c.(976-978)taC>taA	p.Y326*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.Y326*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	326						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGAGGACTTGTATTCGACAG	0.478										HNSCC(40;0.11)			27	231					3.6726e-16	3.97865e-16	1	0	T	164907641	G	T	164907641	4	4	448	1	0	0	0	0	0	1	0	0	14832	1372	48	4	1959	4	SLITRK3	3	164907641	Nonsense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	149221577	164907641	33114789	19	87743											
GABRB1	2560	broad.mit.edu	37	chr4	47427768	47427768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggaagtgctcacgagCgtgagcgaccccaaggccac	9	4	14	14	4	1	1	1	1	0	0	2	4	1	2	3	3	3	2	3	3	2	0			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr4:47427768C>T	ENST00000295454.3	+	9	1450	c.1158C>T	c.(1156-1158)agC>agT	p.S386S	GABRB1_ENST00000538619.1_Silent_p.S316S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	386					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTCACGAGCGTGAGCGACC	0.622													15	65					0	0	0	0	T	47427768	C	T	47427768	2	4	448	1	0	0	0	0	0	0	0	1	6214	767	27	1		1	GABRB1	4	47427768	Silent	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		47427768	143726508	20	87744											
PLK4	10733	broad.mit.edu	37	chr4	128807144	128807144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttatacattacttatcGggagaccacccttcgacact	10	14	6	11	2	0	1	0	0	0	1	2	3	0	1	2	1	2	1	2	1	4	6			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr4:128807144G>A	ENST00000270861.5	+	5	893	c.619G>A	c.(619-621)Ggg>Agg	p.G207R	PLK4_ENST00000513090.1_Missense_Mutation_p.G175R|PLK4_ENST00000515069.1_Missense_Mutation_p.G207R|PLK4_ENST00000514379.1_Missense_Mutation_p.G166R|PLK4_ENST00000507249.1_Missense_Mutation_p.G207R	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	207	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G207W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATTACTTATCGGGAGACCACC	0.408													9	105					0	0	0	0	A	128807144	G	A	128807144	3	1	448	1	0	0	0	0	1	0	0	0	12170	1116	39	1	637	1	PLK4	4	128807144	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	81379376	128807144	62347132	21	87745											
FAM172A	83989	broad.mit.edu	37	chr5	93159946	93159946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatgatcccaaacatagaTtgcatgttcttcaggagaac	15	10	8	8	0	2	3	1	1	1	2	3	5	3	3	1	1	3	2	1	1	4	4	rs138887089	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr5:93159946T>A	ENST00000395965.3	-	8	956	c.814A>T	c.(814-816)Atc>Ttc	p.I272F	FAM172A_ENST00000509739.1_Missense_Mutation_p.I125F|FAM172A_ENST00000509163.1_Missense_Mutation_p.I226F|FAM172A_ENST00000505869.1_Missense_Mutation_p.I162F	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	272						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CAAACATAGATTGCATGTTCT	0.348													49	55					0	0	0	0	A	93159946	T	A	93159946	3	1	448	1	0	0	0	0	1	0	0	0	5533	1493	52	5	452	5	FAM172A	5	93159946	Missense_Mutation	SNP	T	TCGA-MT-A51X-01A-11D-A25Y-08		93159946	87755314	22	87746											
EBF1	1879	broad.mit.edu	37	chr5	158139244	158139244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgcggcagagccgtatccGttcatgctcgtggtgacgga	7	10	14	10	5	1	2	1	1	0	1	3	3	2	3	2	3	3	4	2	3	1	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr5:158139244G>A	ENST00000313708.6	-	14	1749	c.1467C>T	c.(1465-1467)aaC>aaT	p.N489N	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N458N|EBF1_ENST00000517373.1_Intron	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	489	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCGTATCCGTTCATGCTCG	0.572			T	HMGA2	lipoma								3	18					0	0	0	0	A	158139244	G	A	158139244	2	1	448	1	0	0	0	0	0	0	0	1	4916	1136	40	1		1	EBF1	5	158139244	Silent	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	64979298	158139244	22776016	23	87747											
BCLAF1	9774	broad.mit.edu	37	chr6	136597075	136597075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgatcctaagtgggctttCctctctgaaggtagactttt	7	17	9	8	0	1	3	0	2	1	1	4	3	3	3	2	2	0	2	2	2	3	6			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr6:136597075C>T	ENST00000531224.1	-	5	1840	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	BCLAF1_ENST00000392348.2_Missense_Mutation_p.E528K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E528K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E357K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E528K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E530K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	530					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGTGGGCTTTCCTCTCTGAAG	0.433													22	315					0	0	0	0	T	136597075	C	T	136597075	3	4	448	1	0	0	0	0	1	0	0	0	1387	864	30	2	1210	2	BCLAF1	6	136597075	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		136597075	34517992	24	87748											
ARID1B	57492	broad.mit.edu	37	chr6	157522598	157522598	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtcttgaaacaaaggCgaaagattacctccaaagat	18	7	7	9	1	1	3	0	1	1	2	2	4	2	3	3	1	3	0	3	1	6	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr6:157522598C>T	ENST00000346085.5	+	18	4871	c.4870C>T	c.(4870-4872)Cga>Tga	p.R1624*	ARID1B_ENST00000350026.5_Nonsense_Mutation_p.R1611*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.R1664*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.R1606*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1611					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAAACAAAGGCGAAAGATTAC	0.443													18	111					0	0	0	0	T	157522598	C	T	157522598	4	4	448	1	0	0	0	0	0	1	0	0	916	760	27	1	4940	1	ARID1B	6	157522598	Nonsense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	20925523	157522598	13592469	25	87749											
SFRP4	6424	broad.mit.edu	37	chr7	37956085	37956085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcagggcgcgccgcgcaCgcccagcgccaggtgcagcc	5	2	15	19	7	0	0	0	0	0	0	1	0	0	0	4	2	3	3	4	2	0	0			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr7:37956085C>T	ENST00000436072.2	-	1	432	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	19	FZ.			V -> M (in Ref. 5; CAG46532).	brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCGCCGCGCACGCCCAGCGCC	0.687													29	26					0	0	0	0	T	37956085	C	T	37956085	3	4	448	1	0	0	0	0	1	0	0	0	14250	536	19	1	1009	1	SFRP4	7	37956085	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		37956085	121182578	26	87750											
DLX6	1750	broad.mit.edu	37	chr7	96639323	96639323	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactggtactcctctccAcaccaggacacgatgcagag	10	8	8	15	1	2	1	1	0	2	1	5	3	3	2	3	2	2	2	3	2	1	1			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr7:96639323A>G	ENST00000518156.2	+	3	1276	c.846A>G	c.(844-846)ccA>ccG	p.P282P	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Silent_p.P154P|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Silent_p.P254P			P56179	DLX6_HUMAN	distal-less homeobox 6	164					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ACTCCTCTCCACACCAGGACA	0.567													3	19					0	0	0	0	G	96639323	A	G	96639323	2	3	448	1	0	0	0	0	0	0	0	1	4612	146	6	5		5	DLX6	7	96639323	Silent	SNP	A	TCGA-MT-A51X-01A-11D-A25Y-08	58683238	96639323	62499340	27	87751											
CSMD1	64478	broad.mit.edu	37	chr8	2820898	2820898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccattctgcaccggcggCggctgaggacacagcacggc	7	6	14	14	4	1	1	0	1	1	0	2	2	2	2	2	5	2	4	2	5	0	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr8:2820898C>T	ENST00000520002.1	-	61	9858	c.9303G>A	c.(9301-9303)ccG>ccA	p.P3101P	CSMD1_ENST00000537824.1_Silent_p.P3100P|CSMD1_ENST00000602723.1_Silent_p.P2924P|CSMD1_ENST00000400186.3_Silent_p.P2924P|CSMD1_ENST00000602557.1_Silent_p.P3101P|CSMD1_ENST00000542608.1_Silent_p.P2923P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3101	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACCGGCGGCGGCTGAGGAC	0.527													30	84					0	0	0	0	T	2820898	C	T	2820898	2	4	448	1	0	0	0	0	0	0	0	1	3976	755	27	1		1	CSMD1	8	2820898	Silent	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		2820898	143543124	28	87752											
DLC1	10395	broad.mit.edu	37	chr8	12957976	12957976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagttgctggaggagcaaaCgctgatgacggagttagtcc	11	8	14	8	2	0	2	0	2	0	0	1	5	1	5	1	3	3	5	1	3	3	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr8:12957976C>T	ENST00000276297.4	-	9	2279	c.1870G>A	c.(1870-1872)Gtt>Att	p.V624I	DLC1_ENST00000520226.1_Missense_Mutation_p.V113I|DLC1_ENST00000358919.2_Missense_Mutation_p.V187I|DLC1_ENST00000512044.2_Missense_Mutation_p.V221I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	624					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGGAGCAAACGCTGATGACG	0.632													11	87					0	0	0	0	T	12957976	C	T	12957976	3	4	448	1	0	0	0	0	1	0	0	0	4587	536	19	1	2756	1	DLC1	8	12957976	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	10137078	12957976	133406046	29	87753											
MSR1	4481	broad.mit.edu	37	chr8	16026136	16026136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttagctgcagaagaatgTcattaaatctttgatcagtt	13	15	7	6	0	3	3	2	1	1	2	3	3	3	3	0	0	3	3	0	0	6	5			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr8:16026136T>C	ENST00000350896.3	-	4	658	c.461A>G	c.(460-462)gAc>gGc	p.D154G	MSR1_ENST00000381998.4_Missense_Mutation_p.D154G|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.D172G|MSR1_ENST00000355282.2_Missense_Mutation_p.D154G|MSR1_ENST00000262101.5_Missense_Mutation_p.D154G	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	154					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAGAAGAATGTCATTAAATCT	0.388													25	99					0	0	0	0	C	16026136	T	C	16026136	3	2	448	1	0	0	0	0	1	0	0	0	9956	1667	58	5	970	5	MSR1	8	16026136	Missense_Mutation	SNP	T	TCGA-MT-A51X-01A-11D-A25Y-08	3068160	16026136	130337886	30	87754											
RUNX1T1	862	broad.mit.edu	37	chr8	92983053	92983053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctccgtcatcgcctggcGcttcacctcattgacggcct	5	10	9	17	4	3	1	3	1	0	0	5	1	4	1	4	2	1	2	4	2	0	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr8:92983053G>A	ENST00000523629.1	-	11	1826	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R431C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R421C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R469C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R421C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R458C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R421C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R431C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	458					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R469C(1)|p.R421C(1)|p.R458C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATCGCCTGGCGCTTCACCTCA	0.567													26	25					0	0	0	0	A	92983053	G	A	92983053	3	1	448	1	0	0	0	0	1	0	0	0	13832	1087	38	1	450	1	RUNX1T1	8	92983053	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	76956917	92983053	53380969	31	87755											
RAD54B	25788	broad.mit.edu	37	chr8	95403862	95403862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagagttgaacaaaaggcagGggtgattgcacagtttttta	13	12	12	4	0	0	3	0	2	0	1	0	3	0	3	0	3	2	4	0	3	5	6			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr8:95403862G>A	ENST00000336148.5	-	10	1908	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CAAAAGGCAGGGGTGATTGCA	0.403								Direct reversal of damage;Homologous recombination					22	256					0	0	0	0	A	95403862	G	A	95403862	3	1	448	1	0	0	0	0	1	0	0	0	13074	1232	43	4	972	4	RAD54B	8	95403862	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	2420809	95403862	50960160	32	87756											
SYBU	55638	broad.mit.edu	37	chr8	110655121	110655121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaccggggaattcggcttCgagaaatctccttgtcatga	10	11	10	10	3	3	2	2	1	1	1	6	4	3	3	2	3	1	1	2	3	3	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr8:110655121C>T	ENST00000399066.3	-	1	783	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	SYBU_ENST00000408908.2_Missense_Mutation_p.R22Q|SYBU_ENST00000424158.2_Missense_Mutation_p.R27Q|SYBU_ENST00000533895.1_Missense_Mutation_p.R21Q|SYBU_ENST00000533171.1_Missense_Mutation_p.R22Q|SYBU_ENST00000446070.2_Missense_Mutation_p.R21Q|SYBU_ENST00000433638.1_Missense_Mutation_p.R22Q|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000422135.1_Missense_Mutation_p.R22Q|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000276646.9_Missense_Mutation_p.R22Q|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000419099.1_Missense_Mutation_p.R21Q|SYBU_ENST00000440310.1_Missense_Mutation_p.R22Q|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000528647.1_Missense_Mutation_p.R21Q	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	22	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AATTCGGCTTCGAGAAATCTC	0.478													7	152					0	0	0	0	T	110655121	C	T	110655121	3	4	448	1	0	0	0	0	1	0	0	0	15517	884	31	1	1950	1	SYBU	8	110655121	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	15251259	110655121	35708901	33	87757											
MPDZ	8777	broad.mit.edu	37	chr9	13224399	13224399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catatttttgataagctgatCaaattcatcacaagcaggtt	14	14	6	7	0	3	2	3	2	0	0	3	2	3	2	0	1	2	3	0	1	4	6			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr9:13224399C>G	ENST00000319217.7	-	4	614	c.367G>C	c.(367-369)Gat>Cat	p.D123H	MPDZ_ENST00000381022.2_Missense_Mutation_p.D123H|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123H|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123H|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123H|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123H|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	123					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAAGCTGATCAAATTCATCA	0.338													27	47					0	0	0	0	G	13224399	C	G	13224399	3	3	448	1	0	0	0	0	1	0	0	0	9792	826	29	2	5930	2	MPDZ	9	13224399	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		13224399	127989032	34	87758											
TLN1	7094	broad.mit.edu	37	chr9	35720905	35720905	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccatcttggtaatctccAaaatcctagggtgacaagtg	12	11	9	9	0	2	1	0	1	2	0	4	1	3	1	3	2	1	1	3	2	6	4			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr9:35720905A>C	ENST00000314888.9	-	11	1463	c.1110T>G	c.(1108-1110)ttT>ttG	p.F370L	TLN1_ENST00000540444.1_Missense_Mutation_p.F370L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	370	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTAATCTCCAAAATCCTAGG	0.488													5	61					0	0	0	0	C	35720905	A	C	35720905	3	2	448	1	0	0	0	0	1	0	0	0	16041	127	5	5	6703	5	TLN1	9	35720905	Missense_Mutation	SNP	A	TCGA-MT-A51X-01A-11D-A25Y-08	22496506	35720905	105492526	35	87759											
TRPM3	80036	broad.mit.edu	37	chr9	73235024	73235024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctcctgggaaatgtcGtcaaccatgtcgttctcaga	9	12	9	11	2	3	1	3	0	1	1	7	2	4	2	2	1	2	2	2	1	2	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr9:73235024G>A	ENST00000377110.2	-	15	2304	c.2061C>T	c.(2059-2061)gaC>gaT	p.D687D	TRPM3_ENST00000377106.1_Silent_p.D559D|TRPM3_ENST00000396280.5_Silent_p.D536D|TRPM3_ENST00000396285.1_Silent_p.D534D|TRPM3_ENST00000408909.2_Silent_p.D546D|TRPM3_ENST00000396292.4_Silent_p.D559D|TRPM3_ENST00000357533.2_Silent_p.D691D|TRPM3_ENST00000377111.2_Silent_p.D687D|TRPM3_ENST00000358082.3_Silent_p.D549D|TRPM3_ENST00000377105.1_Silent_p.D546D|TRPM3_ENST00000360823.2_Silent_p.D549D|TRPM3_ENST00000423814.3_Silent_p.D714D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	712						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGAAATGTCGTCAACCATGT	0.597													8	36					0	0	0	0	A	73235024	G	A	73235024	2	1	448	1	0	0	0	0	0	0	0	1	16682	1136	40	1		1	TRPM3	9	73235024	Silent	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	37514119	73235024	67978407	36	87760											
PRKCQ	5588	broad.mit.edu	37	chr10	6506274	6506274	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccctttaaagcctcttaCgtcgctctggaaaggtcgaa	12	10	8	11	3	2	0	0	0	2	0	4	2	2	1	2	2	3	1	2	2	6	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr10:6506274C>T	ENST00000263125.5	-	13	1545		c.e13+1		PRKCQ_ENST00000539722.1_Splice_Site|PRKCQ_ENST00000397176.2_Splice_Site	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta						axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGCCTCTTACGTCGCTCTGG	0.463													50	210					0	0	0	0	T	6506274	C	T	6506274	5	4	448	1	0	0	0	0	0	0	1	0	12595	550	19	1	698	1	PRKCQ	10	6506274	Splice_Site	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		6506274	129028473	37	87761											
IFIT3	3437	broad.mit.edu	37	chr10	91098516	91098516	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtctcaagggatctagAagatagagtgtgtaaccaga	14	9	12	6	0	2	4	1	0	2	4	3	5	2	5	1	1	1	1	1	1	5	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr10:91098516A>T	ENST00000371818.4	+	2	284	c.104A>T	c.(103-105)gAa>gTa	p.E35V	IFIT3_ENST00000371811.4_Missense_Mutation_p.E35V|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	35					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AGGGATCTAGAAGATAGAGTG	0.403													15	66					0	0	0	0	T	91098516	A	T	91098516	3	4	448	1	0	0	0	0	1	0	0	0	7577	246	9	5	119	5	IFIT3	10	91098516	Missense_Mutation	SNP	A	TCGA-MT-A51X-01A-11D-A25Y-08	84592242	91098516	44436231	38	87762											
OR56A3	390083	broad.mit.edu	37	chr11	5968672	5968672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctggcagcactggctgtcCctgcccctcagcctcctttt	4	11	9	17	0	1	0	1	0	0	0	3	0	3	0	5	2	4	4	5	2	0	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr11:5968672C>T	ENST00000329564.6	+	1	103	c.96C>T	c.(94-96)tcC>tcT	p.S32S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGCTGTCCCTGCCCCTCA	0.557													17	44					0	0	0	0	T	5968672	C	T	5968672	2	4	448	1	0	0	0	0	0	0	0	1	11205	610	22	4		4	OR56A3	11	5968672	Silent	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		5968672	129037844	39	87763											
RBMXL2	27288	broad.mit.edu	37	chr11	7111246	7111246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgccccaggacgggggacaCcgccatcttacggaggagga	9	3	15	14	4	1	0	0	0	1	0	1	5	1	5	5	6	1	0	5	6	1	1			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr11:7111246C>T	ENST00000306904.5	+	1	1082	c.895C>T	c.(895-897)Ccg>Tcg	p.P299S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACGGGGGACACCGCCATCTTA	0.662													3	25					0	0	0	0	T	7111246	C	T	7111246	3	4	448	1	0	0	0	0	1	0	0	0	13236	507	18	4	897	4	RBMXL2	11	7111246	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	1142574	7111246	127895270	40	87764											
KCNA4	3739	broad.mit.edu	37	chr11	30032606	30032606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatggcacacagggacccGacaatcttgccccctacagt	11	6	9	15	1	1	0	0	0	1	0	1	2	1	1	3	2	2	2	3	2	3	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr11:30032606G>A	ENST00000328224.6	-	2	2853	c.1620C>T	c.(1618-1620)gtC>gtT	p.V540V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	540						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			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						ACAGGGACCCGACAATCTTGC	0.488													8	38					0	0	0	0	A	30032606	G	A	30032606	2	1	448	1	0	0	0	0	0	0	0	1	8058	1045	37	1		1	KCNA4	11	30032606	Silent	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	22921360	30032606	104973910	41	87765											
TMEM132A	54972	broad.mit.edu	37	chr11	60699157	60699157	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgtctcctttggccaGcagtccccttgaactgtctg	4	15	8	14	0	3	1	0	1	3	0	6	1	4	1	4	1	2	1	4	1	1	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr11:60699157G>A	ENST00000005286.4	+	6	1169		c.e6-1		TMEM132A_ENST00000453848.2_Intron	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTTTGGCCAGCAGTCCCCTT	0.552													13	135					0	0	0	0	A	60699157	G	A	60699157	5	1	448	1	0	0	0	0	0	0	1	0	16139	985	34	4	1038	4	TMEM132A	11	60699157	Splice_Site	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	30666551	60699157	74307359	42	87766											
CCDC88B	283234	broad.mit.edu	37	chr11	64109521	64109521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttgaggcctgaggctcCctctagggctcccgccgagg	4	8	14	15	2	1	2	0	2	1	0	3	3	3	2	4	4	1	3	4	4	1	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr11:64109521C>T	ENST00000356786.5	+	8	775	c.731C>T	c.(730-732)cCc>cTc	p.P244L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	244					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGAGGCTCCCTCTAGGGCT	0.652													5	34					0	0	0	0	T	64109521	C	T	64109521	3	4	448	1	0	0	0	0	1	0	0	0	2891	623	22	4	761	4	CCDC88B	11	64109521	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	3410364	64109521	70896995	43	87767											
UNC93B1	81622	broad.mit.edu	37	chr11	67765217	67765217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtttccgctccgcgggagCgtccgcagaaccgtcttgtt	5	10	13	13	6	1	1	0	0	1	1	4	2	4	2	4	2	2	4	4	2	1	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr11:67765217C>T	ENST00000227471.2	-	7	913	c.834G>A	c.(832-834)acG>acA	p.T278T	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	278					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TCCGCGGGAGCGTCCGCAGAA	0.657													7	58					0	0	0	0	T	67765217	C	T	67765217	2	4	448	1	0	0	0	0	0	0	0	1	17093	755	27	1		1	UNC93B1	11	67765217	Silent	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	3655696	67765217	67241299	44	87768											
DUSP16	80824	broad.mit.edu	37	chr12	12630396	12630396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttatcaggactggtttCgggagtctgctccgatagtt	6	14	11	10	2	2	0	1	0	1	0	5	3	4	2	2	3	1	3	2	3	2	4			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr12:12630396C>T	ENST00000228862.2	-	7	2000	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	457					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E457K(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGACTGGTTTCGGGAGTCTGC	0.527													7	122					0	0	0	0	T	12630396	C	T	12630396	3	4	448	1	0	0	0	0	1	0	0	0	4852	893	31	1	632	1	DUSP16	12	12630396	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		12630396	121221499	45	87769											
NACA	4666	broad.mit.edu	37	chr12	57111578	57111578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggggagggaggagttgCagctggggttgtgggggccc	4	10	22	5	0	0	0	0	0	0	0	0	3	0	3	1	8	2	4	1	8	0	4			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr12:57111578C>T	ENST00000454682.1	-	3	4017	c.3736G>A	c.(3736-3738)Gca>Aca	p.A1246T	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGGAGTTGCAGCTGGGGTT	0.657			T	BCL6	NHL								17	58					0	0	0	0	T	57111578	C	T	57111578	3	4	448	1	0	0	0	0	1	0	0	0	10203	710	25	4	2528	4	NACA	12	57111578	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	44481182	57111578	76740317	46	87770											
CAND1	55832	broad.mit.edu	37	chr12	67698406	67698406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccaacattgttaaagctCttcacaaacagatgaaagaa	17	10	5	9	0	2	3	1	1	1	2	3	3	3	3	1	0	3	2	1	0	6	4			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr12:67698406C>T	ENST00000545606.1	+	9	1752	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	439					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGTTAAAGCTCTTCACAAACA	0.378													12	34					0	0	0	0	T	67698406	C	T	67698406	3	4	448	1	0	0	0	0	1	0	0	0	2640	913	32	2	1349	2	CAND1	12	67698406	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	10586828	67698406	66153489	47	87771											
EEA1	8411	broad.mit.edu	37	chr12	93251231	93251231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgaagcctgtaggtcttgGacctcttgtctgagcagtgt	7	13	13	8	0	3	2	0	2	3	0	3	3	3	3	2	2	2	2	2	2	2	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr12:93251231G>T	ENST00000322349.8	-	4	540	c.276C>A	c.(274-276)gtC>gtA	p.V92V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	92					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAGGTCTTGGACCTCTTGTC	0.294													40	70					4.14481e-20	4.55345e-20	1	0	T	93251231	G	T	93251231	2	4	448	1	0	0	0	0	0	0	0	1	4957	1161	41	2		2	EEA1	12	93251231	Silent	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	25552825	93251231	40600664	48	87772											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209951	65209951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctcccgcgatgaggcaCgccgagcagggggcggccgg	6	3	18	14	6	0	1	0	1	0	0	1	3	1	1	4	5	2	2	4	5	0	0			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr14:65209951C>T	ENST00000247226.7	+	15	3330	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R569C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R597C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1064C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1064					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGATGAGGCACGCCGAGCAgg	0.731													14	66					0	0	0	0	T	65209951	C	T	65209951	3	4	448	1	0	0	0	0	1	0	0	0	12142	536	19	1	3076	1	PLEKHG3	14	65209951	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		65209951	42139589	49	87773											
HERC2	8924	broad.mit.edu	37	chr15	28408274	28408274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatgccggaaagcaccGcggagagcacatccctgccc	9	4	10	18	3	0	1	0	0	0	1	2	3	2	2	6	2	4	2	6	2	1	0	rs151205330	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr15:28408274G>A	ENST00000261609.7	-	69	10820	c.10712C>T	c.(10711-10713)gCg>gTg	p.A3571V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3571					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGAAAGCACCGCGGAGAGCAC	0.647													7	73					0	0	0	0	A	28408274	G	A	28408274	3	1	448	1	0	0	0	0	1	0	0	0	7108	1087	38	1	3892	1	HERC2	15	28408274	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08		28408274	74123118	50	87774											
MAP1A	4130	broad.mit.edu	37	chr15	43813897	43813897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcctgtttttggaagctgGtacggcacttggaccgcatt	7	13	12	9	2	0	0	0	0	0	0	1	2	1	2	2	4	2	5	2	4	2	5			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr15:43813897G>T	ENST00000382031.1	+	5	971	c.940G>T	c.(940-942)Gta>Tta	p.V314L	MAP1A_ENST00000300231.5_Missense_Mutation_p.V76L|MAP1A_ENST00000399453.1_Missense_Mutation_p.V76L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	76	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTGGAAGCTGGTACGGCACTT	0.552													5	54					0.014758	0.0149497	1	0	T	43813897	G	T	43813897	3	4	448	1	0	0	0	0	1	0	0	0	9296	1261	44	4	228	4	MAP1A	15	43813897	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	15405623	43813897	58717495	51	87775											
HDC	3067	broad.mit.edu	37	chr15	50555449	50555449	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccccaggcatgatgattcGttcaatgtccccaaagatgc	11	9	8	13	1	1	3	1	2	0	1	3	3	2	3	4	1	1	2	4	1	2	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr15:50555449G>A	ENST00000267845.3	-	2	589	c.187C>T	c.(187-189)Cga>Tga	p.R63*	HDC_ENST00000543581.1_Nonsense_Mutation_p.R63*	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATGATGATTCGTTCAATGTCC	0.592													19	97					0	0	0	0	A	50555449	G	A	50555449	4	1	448	1	0	0	0	0	0	1	0	0	7065	1153	40	1	1845	1	HDC	15	50555449	Nonsense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	6741552	50555449	51975943	52	87776											
DCTPP1	79077	broad.mit.edu	37	chr16	30435664	30435664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacttgcgggaagagctgcGggccagatgggctgggtagc	8	7	18	8	2	0	2	0	0	0	2	0	3	0	3	1	4	5	3	1	4	3	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr16:30435664G>A	ENST00000319285.4	-	3	497	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	DCTPP1_ENST00000568434.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000565758.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000568973.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000567983.1_Missense_Mutation_p.R36C|ZNF771_ENST00000566625.1_Intron	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	135					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						GAAGAGCTGCGGGCCAGATGG	0.612													8	56					0	0	0	0	A	30435664	G	A	30435664	3	1	448	1	0	0	0	0	1	0	0	0	4344	1116	39	1	113	1	DCTPP1	16	30435664	Missense_Mutation	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08		30435664	59919089	53	87777											
ANKRD11	29123	broad.mit.edu	37	chr16	89348249	89348249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggagcttctccctgggCctggcgtctttcttgcctgg	2	12	12	15	1	3	0	0	0	3	0	4	1	3	1	4	4	2	1	4	4	0	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr16:89348249C>T	ENST00000301030.4	-	9	5161	c.4701G>A	c.(4699-4701)agG>agA	p.R1567R	ANKRD11_ENST00000378330.2_Silent_p.R1567R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1567	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTCCCTGGGCCTGGCGTCTT	0.587													13	90					0	0	0	0	T	89348249	C	T	89348249	2	4	448	1	0	0	0	0	0	0	0	1	639	738	26	4		4	ANKRD11	16	89348249	Silent	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	58912585	89348249	1006504	54	87778											
TRAPPC1	58485	broad.mit.edu	37	chr17	7834416	7834416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcccagtgggcgtctcGtagtaatggagtttgtaacg	8	13	13	7	3	1	1	0	1	1	0	3	2	2	2	1	2	1	4	1	2	3	5			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr17:7834416G>A	ENST00000303731.4	-	3	337	c.222C>T	c.(220-222)taC>taT	p.Y74Y	TRAPPC1_ENST00000540486.1_Silent_p.Y74Y	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	74					ER to Golgi vesicle-mediated transport	endoplasmic reticulum				breast(1)|lung(2)	3		Prostate(122;0.173)				TGGGCGTCTCGTAGTAATGGA	0.527													26	15					0	0	0	0	A	7834416	G	A	7834416	2	1	448	1	0	0	0	0	0	0	0	1	16551	1140	40	1		1	TRAPPC1	17	7834416	Silent	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08		7834416	73360794	55	87779											
KRT33B	3884	broad.mit.edu	37	chr17	39521441	39521441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacaccaggttgtgctgggCctgcagctcgatctccaggg	7	8	13	13	1	1	0	0	0	1	0	3	1	1	0	3	3	3	4	3	3	0	1			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr17:39521441C>T	ENST00000251646.3	-	5	911	c.862G>A	c.(862-864)Gcc>Acc	p.A288T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	288	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGTGCTGGGCCTGCAGCTCG	0.582													7	81					0	0	0	0	T	39521441	C	T	39521441	3	4	448	1	0	0	0	0	1	0	0	0	8522	739	26	4	364	4	KRT33B	17	39521441	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	31687025	39521441	41673769	56	87780											
CYP4F8	11283	broad.mit.edu	37	chr19	15730745	15730747	+	RNA	DEL	TAA	TAA	-																															taaaaggtggtaggagcatgTaatggactcatgtctctgac																								rs140849245		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr19:15730745_15730747delTAA	ENST00000441682.2	+	0	586							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						taggagcatgtaatggactcatg	0.468													4	2	---	---	---	---					-	15730747	TAA	-	15730745	6	5	448	0	1	1	0	1	0	0	0	0	4223	1653	57	0		0	CYP4F8	19	15730745	RNA	DEL	TAA	TCGA-MT-A51X-01A-11D-A25Y-08		15730745	43398238	57	87781											
FCGBP	8857	broad.mit.edu	37	chr19	40411941	40411941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggcctcgtgcggtccGcagctggaggactcacagga	7	6	16	12	3	1	0	1	0	0	0	3	3	2	3	2	6	2	3	2	6	0	0			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr19:40411941G>A	ENST00000221347.6	-	7	3694	c.3687C>T	c.(3685-3687)tgC>tgT	p.C1229C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1229	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGCGGTCCGCAGCTGGAGG	0.672													11	34					0	0	0	0	A	40411941	G	A	40411941	2	1	448	1	0	0	0	0	0	0	0	1	5823	1079	38	1		1	FCGBP	19	40411941	Silent	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08	24681196	40411941	18717042	58	87782											
ZNF497	162968	broad.mit.edu	37	chr19	58868541	58868541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcgccgctgtggatgCgctggtgctggctgaggttg	2	12	17	10	3	1	1	0	1	1	0	2	2	1	2	1	4	2	6	1	4	0	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr19:58868541C>T	ENST00000311044.3	-	3	649	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R154H	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCTGTGGATGCGCTGGTGCTG	0.672													5	18					0	0	0	0	T	58868541	C	T	58868541	3	4	448	1	0	0	0	0	1	0	0	0	18041	768	27	1	1039	1	ZNF497	19	58868541	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	18456600	58868541	260442	59	87783											
ASXL1	171023	broad.mit.edu	37	chr20	31019454	31019454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttttttacccatgcggcTcagagctggcgggagcgcct	6	10	14	11	3	1	1	1	0	0	1	1	3	1	2	2	3	4	3	2	3	1	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr20:31019454T>C	ENST00000375687.4	+	10	1375	c.951T>C	c.(949-951)gcT>gcC	p.A317A	ASXL1_ENST00000306058.5_Silent_p.A312A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	317					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCCATGCGGCTCAGAGCTGGC	0.532			"F, N, Mis"		"MDS, CMML"								10	23					0	0	0	0	C	31019454	T	C	31019454	2	2	448	1	0	0	0	0	0	0	0	1	1070	1538	54	5		5	ASXL1	20	31019454	Silent	SNP	T	TCGA-MT-A51X-01A-11D-A25Y-08		31019454	32006066	60	87784											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327064	28327064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggcgctgcataccgatttCgtgagccacagtgaaggctg	10	8	13	10	3	0	2	0	2	0	0	1	3	0	2	2	2	3	3	2	2	3	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr21:28327064C>T	ENST00000284987.5	-	2	1352	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	411	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATACCGATTTCGTGAGCCACA	0.488													13	42					0	0	0	0	T	28327064	C	T	28327064	3	4	448	1	0	0	0	0	1	0	0	0	269	893	31	1	1589	1	ADAMTS5	21	28327064	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		28327064	19802831	61	87785											
SLC19A1	6573	broad.mit.edu	37	chr21	46935587	46935587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagtcactggttcacattCtgaacaccgtcgcttggaag	10	10	11	10	2	3	2	2	1	1	1	4	4	3	3	1	2	1	2	1	2	2	3			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr21:46935587C>G	ENST00000311124.4	-	6	1913	c.1761G>C	c.(1759-1761)caG>caC	p.Q587H	SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000485649.2_Missense_Mutation_p.Q547H	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	587					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GGTTCACATTCTGAACACCGT	0.617													15	50					0	0	0	0	G	46935587	C	G	46935587	3	3	448	1	0	0	0	0	1	0	0	0	14516	912	32	2	18	2	SLC19A1	21	46935587	Missense_Mutation	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08	18608523	46935587	1194308	62	87786											
ELFN2	114794	broad.mit.edu	37	chr22	37770945	37770945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcacactgcaggcggtcGtagttcttggtgacgttgtt	6	13	13	9	3	2	1	1	1	1	0	3	2	2	1	0	3	1	5	0	3	1	5			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chr22:37770945G>A	ENST00000402918.1	-	3	1415	c.630C>T	c.(628-630)taC>taT	p.Y210Y	ELFN2_ENST00000349653.3_Silent_p.Y210Y|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	210	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCAGGCGGTCGTAGTTCTTGG	0.632													7	36					0	0	0	0	A	37770945	G	A	37770945	2	1	448	1	0	0	0	0	0	0	0	1	5096	1140	40	1		1	ELFN2	22	37770945	Silent	SNP	G	TCGA-MT-A51X-01A-11D-A25Y-08		37770945	13533621	63	87787											
FAM47B	170062	broad.mit.edu	37	chrX	34962238	34962238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggagcctaccaagacCggagcgtcccatctaaaaga	12	5	10	14	3	1	2	0	0	1	2	2	4	2	4	5	2	4	0	5	2	4	2			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CBEA37FC-C1F9-479F-900A-F0E6BBD63867	4BAC5EF3-34DC-401D-A16D-33D5E6D8730F	g.chrX:34962238C>T	ENST00000329357.5	+	1	1326	c.1290C>T	c.(1288-1290)acC>acT	p.T430T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	430										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTACCAAGACCGGAGCGTCCC	0.532													13	31					0	0	0	0	T	34962238	C	T	34962238	2	4	448	1	0	0	0	0	0	0	0	1	5617	639	23	1		1	FAM47B	23	34962238	Silent	SNP	C	TCGA-MT-A51X-01A-11D-A25Y-08		34962238	120308322	64	87788											
ATP13A2	23400	broad.mit.edu	37	chr1	17314721	17314721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaagtgtcaagggaacagCgcccctccctgggtggcagg	9	5	15	12	2	1	0	1	0	0	0	2	2	2	1	3	4	2	1	3	4	3	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:17314721C>T	ENST00000452699.1	-	25	2945	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R924H|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R880H	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	924					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AAGGGAACAGCGCCCCTCCCT	0.602													22	86					0	0	0	0	T	17314721	C	T	17314721	3	4	449	1	0	0	0	0	1	0	0	0	1128	768	27	1	1027	1	ATP13A2	1	17314721	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		17314721	231935900	1	87789											
HSPG2	3339	broad.mit.edu	37	chr1	22213790	22213790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcacaatgtccattcccGcaggggaactcgttgggctc	8	8	13	12	2	0	0	0	0	0	0	4	1	2	1	2	4	1	4	2	4	2	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:22213790G>A	ENST00000374695.3	-	9	1075	c.996C>T	c.(994-996)tgC>tgT	p.C332C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	332	LDL-receptor class A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTCCATTCCCGCAGGGGAACT	0.647													4	106					0	0	0	0	A	22213790	G	A	22213790	2	1	449	1	0	0	0	0	0	0	0	1	7483	1079	38	1		1	HSPG2	1	22213790	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	4899069	22213790	227036831	2	87790											
TCEB3	6924	broad.mit.edu	37	chr1	24082410	24082410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagacccgaagagtaTgagtcgtggcgagagatgta	15	6	15	5	3	0	5	0	1	0	4	1	9	0	5	1	1	0	2	1	1	5	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:24082410T>C	ENST00000418390.2	+	8	2218	c.1947T>C	c.(1945-1947)taT>taC	p.Y649Y		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	649	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCGAAGAGTATGAGTCGTGGC	0.463													54	47					0	0	0	0	C	24082410	T	C	24082410	2	2	449	1	0	0	0	0	0	0	0	1	15775	1471	51	5		5	TCEB3	1	24082410	Silent	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	1868620	24082410	225168211	3	87791											
THRAP3	9967	broad.mit.edu	37	chr1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgagttgaatcttctaagcGcaagtctgcaaaggagaaaa	15	8	10	8	2	3	2	0	1	3	1	3	4	3	2	1	1	2	3	1	1	6	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517			T	USP6	aneurysmal bone cysts								5	368					0	0	0	0	A	36752352	G	A	36752352	3	1	449	1	0	0	0	0	1	0	0	0	15968	1087	38	1	527	1	THRAP3	1	36752352	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	12669942	36752352	212498269	4	87792											
DIRAS3	9077	broad.mit.edu	37	chr1	68512804	68512804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcatgacggaagttgccGctcgcccacttgtgcagcag	8	9	11	13	3	1	1	1	1	0	0	2	2	1	2	2	1	4	4	2	1	2	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:68512804G>A	ENST00000370981.1	-	4	813	c.177C>T	c.(175-177)agC>agT	p.S59S	DIRAS3_ENST00000395201.1_Silent_p.S59S|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	59					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAAGTTGCCGCTCGCCCACT	0.587													4	207					0	0	0	0	A	68512804	G	A	68512804	2	1	449	1	0	0	0	0	0	0	0	1	4569	1078	38	1		1	DIRAS3	1	68512804	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	31760452	68512804	180737817	5	87793											
USP33	23032	broad.mit.edu	37	chr1	78200091	78200091	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatttccaatatttttcaaAcctgtaagacctattaagaa	15	15	4	7	0	1	2	1	0	0	2	2	2	2	2	3	0	1	2	3	0	8	8			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:78200091A>G	ENST00000370793.1	-	8	904	c.558T>C	c.(556-558)ggT>ggC	p.G186G	USP33_ENST00000370792.3_Silent_p.G186G|USP33_ENST00000357428.1_Silent_p.G186G|USP33_ENST00000370794.3_Silent_p.G155G	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	186					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TATTTTTCAAACCTGTAAGAC	0.264													3	8					0	0	0	0	G	78200091	A	G	78200091	2	3	449	1	0	0	0	0	0	0	0	1	17160	30	2	5		5	USP33	1	78200091	Silent	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	9687287	78200091	171050530	6	87794											
F3	2152	broad.mit.edu	37	chr1	95007178	95007178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcgggacccggggccaGgcaggggtctccatgtctac	5	5	18	13	3	2	0	0	0	2	0	3	1	2	1	3	7	1	1	3	7	1	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:95007178G>A	ENST00000334047.7	-	1	178	c.15C>T	c.(13-15)gcC>gcT	p.A5A	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.A5A	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	5					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCCGGGGCCAGGCAGGGGTCT	0.741													3	15					0	0	0	0	A	95007178	G	A	95007178	2	1	449	1	0	0	0	0	0	0	0	1	5385	987	35	4		4	F3	1	95007178	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	16807087	95007178	154243443	7	87795											
AMPD2	271	broad.mit.edu	37	chr1	110168331	110168331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgagctccgtagtgccccGtatgagttccccgaggagag	8	7	14	12	4	0	2	0	1	0	1	2	5	2	2	5	1	3	4	5	1	2	3	rs139217835		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:110168331G>A	ENST00000256578.3	+	3	792	c.432G>A	c.(430-432)ccG>ccA	p.P144P	AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.P69P|AMPD2_ENST00000528667.1_Silent_p.P144P|AMPD2_ENST00000528454.1_Silent_p.P26P|AMPD2_ENST00000393688.3_Silent_p.P25P|AMPD2_ENST00000342115.4_Silent_p.P63P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	144					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTAGTGCCCCGTATGAGTTCC	0.672													36	80					0	0	0	0	A	110168331	G	A	110168331	2	1	449	1	0	0	0	0	0	0	0	1	586	1132	40	1		1	AMPD2	1	110168331	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	15161153	110168331	139082290	8	87796											
NOTCH2	4853	broad.mit.edu	37	chr1	120458296	120458296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtggggaaagccacaCtgggcaaacgggccatttct	10	7	14	10	1	1	0	0	0	1	0	1	1	1	1	2	5	2	2	2	5	2	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:120458296C>G	ENST00000256646.2	-	34	7268	c.7049G>C	c.(7048-7050)aGt>aCt	p.S2350T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2350					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGCCACACTGGGCAAACG	0.627			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				44	144					0	0	0	0	G	120458296	C	G	120458296	3	3	449	1	0	0	0	0	1	0	0	0	10618	565	20	4	370	4	NOTCH2	1	120458296	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	10289965	120458296	128792325	9	87797											
CHD1L	9557	broad.mit.edu	37	chr1	146751862	146751862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcagagatcaagaggaagGaagtaagttggaggttagag	16	6	17	2	0	1	3	1	0	0	3	1	8	1	6	0	4	1	4	0	4	5	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:146751862G>T	ENST00000369258.4	+	15	1723	c.1703G>T	c.(1702-1704)gGa>gTa	p.G568V	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.G287V|CHD1L_ENST00000431239.1_Missense_Mutation_p.G474V|CHD1L_ENST00000369259.3_Missense_Mutation_p.G364V	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	568					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAAGAGGAAGGAAGTAAGTTG	0.517													8	38					1.06961e-07	1.14552e-07	1	0	T	146751862	G	T	146751862	3	4	449	1	0	0	0	0	1	0	0	0	3353	1174	41	2	1761	2	CHD1L	1	146751862	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	26293566	146751862	102498759	10	87798											
HIST3H3	8290	broad.mit.edu	37	chr1	228612911	228612911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgggccggtagcggtgcGgcttcttcacgccgccagtg	3	8	16	14	6	2	0	1	0	1	0	2	0	2	0	4	4	3	2	4	4	1	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:228612911G>A	ENST00000366696.1	-	1	115	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	39					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GTAGCGGTGCGGCTTCTTCAC	0.672													23	90					0	0	0	0	A	228612911	G	A	228612911	3	1	449	1	0	0	0	0	1	0	0	0	7234	1116	39	1	298	1	HIST3H3	1	228612911	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	81861049	228612911	20637710	11	87799											
SIPA1L2	57568	broad.mit.edu	37	chr1	232574963	232574963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atataacttggctggctcgtCgtcaggcccagagacgtcgg	8	9	13	11	4	1	1	1	0	0	1	4	2	1	1	1	4	1	2	1	4	2	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:232574963C>T	ENST00000366630.1	-	14	4280	c.3922G>A	c.(3922-3924)Gac>Aac	p.D1308N	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D382N|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1308N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1308				D -> V (in Ref. 2; BAB14273).	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGGCTCGTCGTCAGGCCCA	0.637													21	58					0	0	0	0	T	232574963	C	T	232574963	3	4	449	1	0	0	0	0	1	0	0	0	14418	884	31	1	1282	1	SIPA1L2	1	232574963	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	3962052	232574963	16675658	12	87800											
RYR2	6262	broad.mit.edu	37	chr1	237829886	237829886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttacactatctagagacctGcatgtaagtactattaactt	13	14	6	8	0	1	1	0	0	1	1	1	2	1	1	1	0	4	4	1	0	7	8			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:237829886G>A	ENST00000366574.2	+	57	8828	c.8511G>A	c.(8509-8511)ctG>ctA	p.L2837L	RYR2_ENST00000360064.6_Silent_p.L2835L|RYR2_ENST00000542537.1_Silent_p.L2821L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2837	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGAGACCTGCATGTAAGTA	0.363													9	15					0	0	0	0	A	237829886	G	A	237829886	2	1	449	1	0	0	0	0	0	0	0	1	13854	1306	46	4		4	RYR2	1	237829886	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	5254923	237829886	11420735	13	87801											
OR2T33	391195	broad.mit.edu	37	chr1	248436658	248436658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacagcctgcaggagcccGtcagctgcacccaggagcca	11	3	11	16	1	1	0	1	0	0	0	1	2	1	2	4	2	7	3	4	2	1	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:248436658G>A	ENST00000318021.2	-	1	480	c.459C>T	c.(457-459)gaC>gaT	p.D153D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGGAGCCCGTCAGCTGCAC	0.587													23	174					0	0	0	0	A	248436658	G	A	248436658	2	1	449	1	0	0	0	0	0	0	0	1	11095	1136	40	1		1	OR2T33	1	248436658	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	10606772	248436658	813963	14	87802											
OR2T2	401992	broad.mit.edu	37	chr1	248616186	248616186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccccgggcttctctttGcaatagtcttctccatcttt	4	17	5	15	1	4	0	0	0	4	0	7	0	5	0	4	1	1	2	4	1	2	6			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:248616186G>T	ENST00000342927.3	+	1	110	c.88G>T	c.(88-90)Gca>Tca	p.A30S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTCTCTTTGCAATAGTCTT	0.522													33	246					3.57733e-08	3.85608e-08	1	0	T	248616186	G	T	248616186	3	4	449	1	0	0	0	0	1	0	0	0	11091	1319	46	4	90	4	OR2T2	1	248616186	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	179528	248616186	634435	15	87803											
ZNF692	55657	broad.mit.edu	37	chr1	249151461	249151461	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcccactcgtggcctcGgaacaccaacttctccgagt	7	9	8	17	3	1	0	0	0	1	0	5	2	2	1	5	2	3	0	5	2	2	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:249151461G>A	ENST00000451251.1	-	4	807	c.462C>T	c.(460-462)tcC>tcT	p.S154S	ZNF692_ENST00000427146.1_Silent_p.S149S|ZNF692_ENST00000306601.4_Silent_p.S149S|ZNF692_ENST00000366471.3_Silent_p.S149S|ZNF692_ENST00000366469.5_Silent_p.S149S|ZNF692_ENST00000468455.1_5'UTR	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTGGCCTCGGAACACCAAC	0.537													24	68					0	0	0	0	A	249151461	G	A	249151461	2	1	449	1	0	0	0	0	0	0	0	1	18192	1103	39	1		1	ZNF692	1	249151461	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	535275	249151461	99160	16	87804											
KIDINS220	57498	broad.mit.edu	37	chr2	8952586	8952586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgaactatatctgcatggCctctccctgctgcccaaatg	9	11	8	13	0	2	1	0	1	2	0	3	2	2	1	3	1	4	2	3	1	4	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:8952586C>T	ENST00000256707.3	-	6	624	c.443G>A	c.(442-444)gGc>gAc	p.G148D	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G148D|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G106D|KIDINS220_ENST00000319688.5_Missense_Mutation_p.G149D|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G148D	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	148					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCTGCATGGCCTCTCCCTGC	0.428													14	37					0	0	0	0	T	8952586	C	T	8952586	3	4	449	1	0	0	0	0	1	0	0	0	8322	739	26	4	4972	4	KIDINS220	2	8952586	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		8952586	234246787	17	87805											
KCNF1	3754	broad.mit.edu	37	chr2	11053054	11053054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccgctgccagaagtgcGtctggaagttcctggagaag	8	7	16	10	3	1	2	0	0	1	2	2	4	2	3	3	3	2	2	3	3	3	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:11053054G>A	ENST00000295082.1	+	1	992	c.502G>A	c.(502-504)Gtc>Atc	p.V168I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	168						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCAGAAGTGCGTCTGGAAGTT	0.692													4	68					0	0	0	0	A	11053054	G	A	11053054	3	1	449	1	0	0	0	0	1	0	0	0	8079	1145	40	1	504	1	KCNF1	2	11053054	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	2100468	11053054	232146319	18	87806											
NLRC4	58484	broad.mit.edu	37	chr2	32474685	32474685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttacaatacccggcagccGttgattctgtaggtcatgaa	11	12	9	9	2	2	2	1	2	1	0	2	2	2	2	2	2	3	3	2	2	5	6			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:32474685G>A	ENST00000404025.2	-	5	2736	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	750					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCCGGCAGCCGTTGATTCTGT	0.393													5	286					0	0	0	0	A	32474685	G	A	32474685	3	1	449	1	0	0	0	0	1	0	0	0	10539	1144	40	1	850	1	NLRC4	2	32474685	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	21421631	32474685	210724688	19	87807											
DCTN1	1639	broad.mit.edu	37	chr2	74598256	74598256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtttcagtctcagggtctcTagtttctcctccaggtcccg	4	14	9	14	2	4	0	2	0	3	0	9	0	6	0	3	2	0	2	3	2	1	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:74598256T>C	ENST00000361874.3	-	9	1010	c.693A>G	c.(691-693)ctA>ctG	p.L231L	DCTN1_ENST00000409438.1_Silent_p.L97L|DCTN1_ENST00000394003.3_Silent_p.L224L|DCTN1_ENST00000409567.3_Silent_p.L211L|DCTN1_ENST00000407639.2_Silent_p.L97L|DCTN1_ENST00000409240.1_Silent_p.L194L|DCTN1_ENST00000409868.1_Silent_p.L214L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	231					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCAGGGTCTCTAGTTTCTCCT	0.547													110	338					0	0	0	0	C	74598256	T	C	74598256	2	2	449	1	0	0	0	0	0	0	0	1	4338	1509	53	5		5	DCTN1	2	74598256	Silent	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	42123571	74598256	168601117	20	87808											
C2orf68	388969	broad.mit.edu	37	chr2	85836692	85836692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatagtctgggttgcGtgggtgggcagagacatctg	6	12	15	8	1	4	1	1	0	3	1	4	2	4	1	0	3	1	2	0	3	1	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:85836692G>A	ENST00000306336.5	-	3	288	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	82										breast(1)|central_nervous_system(1)|endometrium(1)	3						TCTGGGTTGCGTGGGTGGGCA	0.532													49	145					0	0	0	0	A	85836692	G	A	85836692	3	1	449	1	0	0	0	0	1	0	0	0	2207	1145	40	1	264	1	C2orf68	2	85836692	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	11238436	85836692	157362681	21	87809											
TLK1	9874	broad.mit.edu	37	chr2	171850363	171850363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtaggtttcctgaaGaatttgatcttctcatgtgt	8	17	9	7	0	2	3	1	2	2	1	4	3	3	3	2	1	0	2	2	1	3	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:171850363G>T	ENST00000442919.2	-	21	2699	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	TLK1_ENST00000360843.3_Missense_Mutation_p.S764Y|TLK1_ENST00000521943.1_Missense_Mutation_p.S695Y|TLK1_ENST00000431350.2_Missense_Mutation_p.S743Y|TLK1_ENST00000434911.2_Missense_Mutation_p.S647Y	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	743	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTTCCTGAAGAATTTGATCT	0.438													36	73					4.62619e-21	5.11965e-21	1	0	T	171850363	G	T	171850363	3	4	449	1	0	0	0	0	1	0	0	0	16037	942	33	2	76	2	TLK1	2	171850363	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	86013671	171850363	71349010	22	87810											
NFE2L2	4780	broad.mit.edu	37	chr2	178098956	178098956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacttctcgacttactccaAgatctatatcttgcctccaa	11	14	3	13	1	3	1	0	0	3	1	6	2	5	1	3	0	3	0	3	0	6	6			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:178098956A>G	ENST00000397062.3	-	2	643	c.89T>C	c.(88-90)cTt>cCt	p.L30P	NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			8	24					0	0	0	0	G	178098956	A	G	178098956	3	3	449	1	0	0	0	0	1	0	0	0	10438	72	3	5	1744	5	NFE2L2	2	178098956	Missense_Mutation	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	6248593	178098956	65100417	23	87811											
TTLL4	9654	broad.mit.edu	37	chr2	219603352	219603352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgagggcagagccactttCctgtgctctggatgacagct	8	10	12	11	0	1	3	0	2	1	1	2	4	2	4	2	2	3	3	2	2	0	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:219603352C>T	ENST00000392102.1	+	3	1293	c.953C>T	c.(952-954)tCc>tTc	p.S318F	TTLL4_ENST00000457313.1_Missense_Mutation_p.S153F|TTLL4_ENST00000258398.4_Missense_Mutation_p.S318F|TTLL4_ENST00000442769.1_Missense_Mutation_p.S318F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	318					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAGCCACTTTCCTGTGCTCTG	0.522													31	83					0	0	0	0	T	219603352	C	T	219603352	3	4	449	1	0	0	0	0	1	0	0	0	16825	855	30	2	955	2	TTLL4	2	219603352	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	41504396	219603352	23596021	24	87812											
SLC4A3	6508	broad.mit.edu	37	chr2	220502516	220502516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaagttcaggaacagcCgcttcctggggggcaaggtg	8	7	16	10	2	1	0	1	0	0	0	2	1	2	1	2	5	3	4	2	5	3	2	rs140297559	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:220502516C>T	ENST00000358055.3	+	17	3261	c.2749C>T	c.(2749-2751)Cgc>Tgc	p.R917C	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917C|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944C|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944C|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917C			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	917	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGAACAGCCGCTTCCTGGG	0.622													15	63					0	0	0	0	T	220502516	C	T	220502516	3	4	449	1	0	0	0	0	1	0	0	0	14743	652	23	1	2892	1	SLC4A3	2	220502516	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	899164	220502516	22696857	25	87813											
CHL1	10752	broad.mit.edu	37	chr3	402045	402045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaatcatactgctgtgtAccagtgtgaagcctcaaatg	13	10	8	10	0	2	1	2	1	0	0	2	1	2	1	3	0	4	2	3	0	5	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:402045A>G	ENST00000256509.2	+	12	1886	c.1244A>G	c.(1243-1245)tAc>tGc	p.Y415C	CHL1_ENST00000397491.2_Missense_Mutation_p.Y399C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	399	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACTGCTGTGTACCAGTGTGAA	0.428													31	95					0	0	0	0	G	402045	A	G	402045	3	3	449	1	0	0	0	0	1	0	0	0	3378	391	14	5	1282	5	CHL1	3	402045	Missense_Mutation	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08		402045	197620385	26	87814											
LAMB2	3913	broad.mit.edu	37	chr3	49160788	49160788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactggctatgggcatgcCggatgctgtcataggcacct	8	9	13	11	1	1	1	1	0	0	1	1	2	1	2	2	4	2	4	2	4	2	2	rs144783830	by1000genomes	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:49160788C>T	ENST00000418109.1	-	27	4165	c.4001G>A	c.(4000-4002)cGg>cAg	p.R1334Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1334Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1334	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGGGCATGCCGGATGCTGTC	0.577													22	93					0	0	0	0	T	49160788	C	T	49160788	3	4	449	1	0	0	0	0	1	0	0	0	8664	652	23	1	1423	1	LAMB2	3	49160788	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	48758743	49160788	148861642	27	87815											
ZBTB11	27107	broad.mit.edu	37	chr3	101370490	101370490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagatcgggcatcagcccaAgctactccacatgttaagca	13	7	9	12	1	1	1	1	0	0	1	3	2	2	1	2	1	4	4	2	1	3	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:101370490A>G	ENST00000312938.4	-	11	3262	c.2682T>C	c.(2680-2682)gcT>gcC	p.A894A		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CATCAGCCCAAGCTACTCCAC	0.423													18	66					0	0	0	0	G	101370490	A	G	101370490	2	3	449	1	0	0	0	0	0	0	0	1	17619	59	3	5		5	ZBTB11	3	101370490	Silent	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	52209702	101370490	96651940	28	87816											
MCM2	4171	broad.mit.edu	37	chr3	127323893	127323893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagtgggtgagcatggcGggcccccggctggagatcca	6	5	18	12	4	0	2	0	1	0	1	1	4	1	2	3	5	1	2	3	5	0	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:127323893G>A	ENST00000265056.7	+	4	811	c.567G>A	c.(565-567)gcG>gcA	p.A189A		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	189	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGAGCATGGCGGGCCCCCGGC	0.627													32	111					0	0	0	0	A	127323893	G	A	127323893	2	1	449	1	0	0	0	0	0	0	0	1	9455	1103	39	1		1	MCM2	3	127323893	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	25953403	127323893	70698537	29	87817											
C3orf27	23434	broad.mit.edu	37	chr3	128292388	128292388	+	Frame_Shift_Del	DEL	C	C	-																															gcccaaactcggtccccagaCccccgagtgtctctggtgcc																								rs141391181		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:128292388delC	ENST00000356020.2	-	3	1151	c.185delG	c.(184-186)gtfs	p.G62fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	62										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GGTCCCCAGACCCCCGAGTGT	0.612													20	81	---	---	---	---					-	128292388	C	-	128292388	7	5	449	1	0	1	0	1	0	0	0	0	2239	507	18	0	268	0	C3orf27	3	128292388	Frame_Shift_Del	DEL	C	TCGA-MT-A67A-01A-11D-A30E-08	968495	128292388	69730042	30	87818											
COL6A5	256076	broad.mit.edu	37	chr3	130159339	130159339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacttccttccaacagctaAatggagaagcaacaattggt	15	9	8	9	0	0	2	0	0	0	2	2	3	2	2	2	2	4	2	2	2	6	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:130159339A>G	ENST00000265379.6	+	35	6651	c.6157A>G	c.(6157-6159)Aat>Gat	p.N2053D	COL6A5_ENST00000432398.2_Missense_Mutation_p.N2053D			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2053	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCAACAGCTAAATGGAGAAGC	0.408													17	44					0	0	0	0	G	130159339	A	G	130159339	3	3	449	1	0	0	0	0	1	0	0	0	3732	14	1	5	6291	5	COL6A5	3	130159339	Missense_Mutation	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	1866951	130159339	67863091	31	87819											
TP63	8626	broad.mit.edu	37	chr3	189584501	189584501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcctagtcatttgattcGagtagaggggaacagccatg	10	10	11	10	1	1	2	1	1	0	1	3	4	2	3	3	2	2	1	3	2	3	4	rs121908849		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:189584501G>A	ENST00000264731.3	+	6	886	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	TP63_ENST00000437221.1_Missense_Mutation_p.R172Q|TP63_ENST00000382063.4_Missense_Mutation_p.R181Q|TP63_ENST00000392460.3_Missense_Mutation_p.R266Q|TP63_ENST00000418709.2_Missense_Mutation_p.R266Q|TP63_ENST00000392461.3_Missense_Mutation_p.R172Q|TP63_ENST00000320472.5_Missense_Mutation_p.R266Q|TP63_ENST00000392463.2_Missense_Mutation_p.R172Q|TP63_ENST00000440651.2_Missense_Mutation_p.R266Q|TP63_ENST00000456148.1_Missense_Mutation_p.R172Q|TP63_ENST00000354600.5_Missense_Mutation_p.R172Q|TP63_ENST00000449992.1_Missense_Mutation_p.R87Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	266			R -> Q (in EEC3).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATTTGATTCGAGTAGAGGGG	0.403										HNSCC(45;0.13)			14	52					0	0	0	0	A	189584501	G	A	189584501	3	1	449	1	0	0	0	0	1	0	0	0	16487	1058	37	1	865	1	TP63	3	189584501	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	59425162	189584501	8437929	32	87820											
TADA2B	93624	broad.mit.edu	37	chr4	7056021	7056021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctgggctacatgcCgctgcgggatgattacgaga	9	7	15	10	3	0	2	0	1	0	1	0	4	0	3	1	2	6	5	1	2	2	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:7056021C>T	ENST00000310074.7	+	2	692	c.503C>T	c.(502-504)cCg>cTg	p.P168L	TADA2B_ENST00000515646.1_Missense_Mutation_p.P76L|TADA2B_ENST00000512388.1_Missense_Mutation_p.P93L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GGCTACATGCCGCTGCGGGAT	0.627													6	26					0	0	0	0	T	7056021	C	T	7056021	3	4	449	1	0	0	0	0	1	0	0	0	15602	652	23	1	509	1	TADA2B	4	7056021	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		7056021	184098255	33	87821											
GBA3	57733	broad.mit.edu	37	chr4	22749537	22749538	+	RNA	INS	-	-	T																															atgatcaaaggcactgctgaINStttttttgctgtgcaatatt																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:22749537_22749538insT	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCACTGCTGATTTTTTTGCTG	0.396													11	24	---	---	---	---					T	22749538	-	T	22749537	6	5	449	0	1	1	1	0	0	0	0	0	6317	333	12	0		0	GBA3	4	22749537	RNA	INS	-	TCGA-MT-A67A-01A-11D-A30E-08	15693516	22749537	168404739	34	87822											
MAML3	55534	broad.mit.edu	37	chr4	140641035	140641035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttgctggactgttccCataaggctctgcagccttgg	5	12	11	13	0	1	0	0	0	1	0	3	1	3	1	3	3	3	5	3	3	1	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:140641035C>T	ENST00000509479.2	-	5	3715	c.2859G>A	c.(2857-2859)atG>atA	p.M953I	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	949	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGACTGTTCCCATAAGGCTCT	0.572													24	79					0	0	0	0	T	140641035	C	T	140641035	3	4	449	1	0	0	0	0	1	0	0	0	9276	594	21	4	561	4	MAML3	4	140641035	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	117891498	140641035	50513241	35	87823											
FBXW7	55294	broad.mit.edu	37	chr4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaatgtgactaggtttcGaataaattcacccgttttca	11	14	6	10	2	2	1	2	1	0	0	4	2	3	1	2	1	0	2	2	1	5	6	rs144247898		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								25	116					0	0	0	0	A	153244185	G	A	153244185	4	1	449	1	0	0	0	0	0	1	0	0	5814	1066	37	1	155	1	FBXW7	4	153244185	Nonsense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	12603150	153244185	37910091	36	87824											
FBXW7	55294	broad.mit.edu	37	chr4	153247161	153247162	+	Frame_Shift_Ins	INS	-	-	A																															agataagagatcttacctgtINSaatgaatagactctattagt																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:153247161_153247162insA	ENST00000281708.4	-	10	2869_2870	c.1640_1641insT	c.(1639-1641)tcafs	p.S547fs	FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S429fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S547fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S371fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S467fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S547fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	547					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCTTACCTGTAATGAATAGAC	0.401			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								26	100	---	---	---	---					A	153247162	-	A	153247161	7	5	449	1	0	1	1	0	0	0	0	0	5814	1635	57	0	494	0	FBXW7	4	153247161	Frame_Shift_Ins	INS	-	TCGA-MT-A67A-01A-11D-A30E-08	2976	153247161	37907115	37	87825											
FAT1	2195	broad.mit.edu	37	chr4	187540557	187540557	+	Frame_Shift_Del	DEL	A	A	-																															ctcgctaattctggcttcatAaatctgttgttcaaagagtg																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:187540557delA	ENST00000441802.2	-	10	7392	c.7183delT	c.(7183-7185)atfs	p.Y2395fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2395	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGGCTTCATAAATCTGTTGT	0.478										HNSCC(5;0.00058)			12	37	---	---	---	---					-	187540557	A	-	187540557	7	5	449	1	0	1	0	1	0	0	0	0	5734	362	13	0	6655	0	FAT1	4	187540557	Frame_Shift_Del	DEL	A	TCGA-MT-A67A-01A-11D-A30E-08	34293396	187540557	3613719	38	87826											
IRX1	79192	broad.mit.edu	37	chr5	3599817	3599817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggacaaggccgaggctcCgcacgcgcccgcagcccctt	7	3	13	18	6	0	0	0	0	0	0	1	3	1	1	5	3	1	3	5	3	1	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:3599817C>T	ENST00000302006.3	+	2	807	c.755C>T	c.(754-756)cCg>cTg	p.P252L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	252						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCGAGGCTCCGCACGCGCCC	0.652													14	41					0	0	0	0	T	3599817	C	T	3599817	3	4	449	1	0	0	0	0	1	0	0	0	7896	652	23	1	761	1	IRX1	5	3599817	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		3599817	177315443	39	87827											
RICTOR	253260	broad.mit.edu	37	chr5	38955713	38955713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctttggttactccgacGaacatagttatcaccatcaa	12	11	6	12	2	2	0	2	0	0	0	3	2	3	0	3	1	2	3	3	1	5	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:38955713G>A	ENST00000357387.3	-	26	2623	c.2593C>T	c.(2593-2595)Cgt>Tgt	p.R865C	RICTOR_ENST00000296782.5_Missense_Mutation_p.R865C|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	865					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTACTCCGACGAACATAGTTA	0.353													18	88					0	0	0	0	A	38955713	G	A	38955713	3	1	449	1	0	0	0	0	1	0	0	0	13441	1058	37	1	2585	1	RICTOR	5	38955713	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	35355896	38955713	141959547	40	87828											
DMXL1	1657	broad.mit.edu	37	chr5	118454614	118454614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgctatacggaggtgactGcagccattggactgaatcaa	11	11	11	8	1	1	2	1	2	0	0	1	4	1	4	1	3	4	2	1	3	4	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:118454614G>A	ENST00000311085.8	+	8	928	c.848G>A	c.(847-849)tGc>tAc	p.C283Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.C283Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	283										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGAGGTGACTGCAGCCATTGG	0.353													15	59					0	0	0	0	A	118454614	G	A	118454614	3	1	449	1	0	0	0	0	1	0	0	0	4631	1319	46	4	878	4	DMXL1	5	118454614	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	79498901	118454614	62460646	41	87829											
ANXA6	309	broad.mit.edu	37	chr5	150497394	150497394	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctccagggacttgtgAtagtctgaggcagagaaagg	11	8	14	8	0	1	3	0	2	1	1	3	5	3	4	2	3	0	2	2	3	2	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:150497394A>C	ENST00000354546.5	-	19	1670	c.1443T>G	c.(1441-1443)taT>taG	p.Y481*	ANXA6_ENST00000377751.5_Nonsense_Mutation_p.Y138*|ANXA6_ENST00000521512.1_Nonsense_Mutation_p.Y274*|ANXA6_ENST00000523714.1_Nonsense_Mutation_p.Y449*|ANXA6_ENST00000356496.5_Nonsense_Mutation_p.Y481*	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	481						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGACTTGTGATAGTCTGAGG	0.572													7	19					0	0	0	0	C	150497394	A	C	150497394	4	2	449	1	0	0	0	0	0	1	0	0	721	340	12	5	610	5	ANXA6	5	150497394	Nonsense_Mutation	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	32042780	150497394	30417866	42	87830											
FABP6	2172	broad.mit.edu	37	chr5	159656577	159656577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcatggctttcaccGgcaagttcgagatggagagt	10	8	13	10	2	1	2	1	0	0	2	2	4	1	2	2	3	2	5	2	3	1	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:159656577G>A	ENST00000393980.4	+	4	306	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	FABP6_ENST00000393982.1_Missense_Mutation_p.G54S|FABP6_ENST00000402432.3_Missense_Mutation_p.G5S	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTTTCACCGGCAAGTTCGA	0.537													4	204					0	0	0	0	A	159656577	G	A	159656577	3	1	449	1	0	0	0	0	1	0	0	0	5402	1116	39	1	170	1	FABP6	5	159656577	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	9159183	159656577	21258683	43	87831											
MDC1	9656	broad.mit.edu	37	chr6	30681756	30681756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattcctggtccctcagaCggtgactcaccccagggctc	7	9	9	16	1	3	2	3	1	0	1	6	2	5	2	4	3	0	1	4	3	1	1	rs61748587		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:30681756C>T	ENST00000376406.3	-	3	988	c.341G>A	c.(340-342)cGt>cAt	p.R114H	MDC1_ENST00000376405.2_Missense_Mutation_p.R114H	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	114	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTCCCTCAGACGGTGACTCAC	0.547								Other conserved DNA damage response genes					19	51					0	0	0	0	T	30681756	C	T	30681756	3	4	449	1	0	0	0	0	1	0	0	0	9472	536	19	1	5980	1	MDC1	6	30681756	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		30681756	140433311	44	87832											
LST1	7940	broad.mit.edu	37	chr6	31556510	31556510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtccccctgtggtccaGccagtaaaaaccatggtccc	9	7	10	15	0	0	0	0	0	0	0	3	0	3	0	6	3	2	1	6	3	3	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:31556510G>A	ENST00000376111.4	+	5	588	c.185G>A	c.(184-186)aGc>aAc	p.S62N	LST1_ENST00000376110.3_3'UTR|LST1_ENST00000303757.8_3'UTR|LST1_ENST00000376090.2_3'UTR|LST1_ENST00000376089.2_3'UTR|LST1_ENST00000211921.7_3'UTR|LST1_ENST00000396101.3_3'UTR|LST1_ENST00000376096.1_3'UTR|LST1_ENST00000376093.2_3'UTR|LST1_ENST00000339530.4_3'UTR|LST1_ENST00000376099.1_3'UTR|LST1_ENST00000418507.2_3'UTR|LST1_ENST00000376102.3_3'UTR|LST1_ENST00000376086.3_3'UTR|LST1_ENST00000438075.2_3'UTR			O00453	LST1_HUMAN	leukocyte specific transcript 1	0					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						CTGTGGTCCAGCCAGTAAAAA	0.532													7	38					0	0	0	0	A	31556510	G	A	31556510	3	1	449	1	0	0	0	0	1	0	0	0	9131	986	34	4		4	LST1	6	31556510	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	874754	31556510	139558557	45	87833											
MOCS1	4337	broad.mit.edu	37	chr6	39902041	39902041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggtgggctcacctccgagGcagctcgcgcggactccccg	4	5	16	16	5	1	0	1	0	0	0	4	2	3	1	4	5	1	3	4	5	0	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:39902041G>A	ENST00000308559.7	-	1	249	c.116C>T	c.(115-117)gCc>gTc	p.A39V	MOCS1_ENST00000373195.3_5'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.A39V|MOCS1_ENST00000373188.2_Missense_Mutation_p.A39V			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	39	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CACCTCCGAGGCAGCTCGCGC	0.726													3	4					0	0	0	0	A	39902041	G	A	39902041	3	1	449	1	0	0	0	0	1	0	0	0	9760	1203	42	4	1204	4	MOCS1	6	39902041	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	8345531	39902041	131213026	46	87834											
GPR116	221395	broad.mit.edu	37	chr6	46826415	46826415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtatgtagcgattgtcCtggatggcagcgaccacaat	11	9	12	9	2	0	1	0	0	0	1	1	4	1	2	2	2	2	3	2	2	3	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:46826415C>T	ENST00000283296.7	-	17	3513	c.3225G>A	c.(3223-3225)caG>caA	p.Q1075Q	GPR116_ENST00000265417.7_Silent_p.Q1075Q|GPR116_ENST00000362015.4_Silent_p.Q1075Q|GPR116_ENST00000545669.1_Silent_p.Q504Q|GPR116_ENST00000456426.2_Silent_p.Q933Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1075				Q -> R (in Ref. 5; AL832125).	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGCGATTGTCCTGGATGGCAG	0.537													27	53					0	0	0	0	T	46826415	C	T	46826415	2	4	449	1	0	0	0	0	0	0	0	1	6682	680	24	4		4	GPR116	6	46826415	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	6924374	46826415	124288652	47	87835											
RHAG	6005	broad.mit.edu	37	chr6	49585874	49585874	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggggctcgtttttccCaggacagctccaaaagatat	9	11	12	9	1	0	1	0	0	0	1	3	2	2	2	2	4	1	3	2	4	3	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:49585874C>G	ENST00000371175.4	-	3	425	c.399G>C	c.(397-399)ctG>ctC	p.L133L	RHAG_ENST00000229810.7_Silent_p.L133L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	133					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCGTTTTTCCCAGGACAGCTC	0.393													3	36					0	0	0	0	G	49585874	C	G	49585874	2	3	449	1	0	0	0	0	0	0	0	1	13398	581	21	4		4	RHAG	6	49585874	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	2759459	49585874	121529193	48	87836											
DOPEY1	23033	broad.mit.edu	37	chr6	83849831	83849832	+	Splice_Site	INS	-	-	T																															aactacacagtatcaccaagINStaagactgcacaaatatttg																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:83849831_83849832insT	ENST00000349129.2	+	22	5492		c.e22+1		DOPEY1_ENST00000237163.5_Splice_Site|DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000484282.1_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTATCACCAAGTAAGACTGCAC	0.351													20	39	---	---	---	---					T	83849832	-	T	83849831	8	5	449	1	0	1	1	0	0	0	1	0	4743	1043	36	0	5311	0	DOPEY1	6	83849831	Splice_Site	INS	-	TCGA-MT-A67A-01A-11D-A30E-08	34263957	83849831	87265236	49	87837											
ZNF292	23036	broad.mit.edu	37	chr6	87964638	87964638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccaaattctttacgctgtGagctgttacttgtattgaaa	11	16	7	7	1	1	2	0	2	1	0	1	2	1	2	1	0	4	4	1	0	6	8			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:87964638G>C	ENST00000369577.3	+	8	1334	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E426Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTACGCTGTGAGCTGTTACT	0.393													14	26					0	0	0	0	C	87964638	G	C	87964638	3	2	449	1	0	0	0	0	1	0	0	0	17921	1291	45	2	1321	2	ZNF292	6	87964638	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	4114807	87964638	83150429	50	87838											
GABRR2	2570	broad.mit.edu	37	chr6	90024934	90024934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttccagtagcctgtggcaGagcaaatcccccctggcttg	7	10	10	14	0	0	1	0	0	0	1	2	1	2	1	5	2	2	4	5	2	2	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:90024934G>A	ENST00000602399.1	-	1	33	c.26C>T	c.(25-27)tCt>tTt	p.S9F	GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000402938.3_5'UTR	NM_002043.2	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	9					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GCCTGTGGCAGAGCAAATCCC	0.517													71	203					0	0	0	0	A	90024934	G	A	90024934	3	1	449	1	0	0	0	0	1	0	0	0	6225	942	33	2	1482	2	GABRR2	6	90024934	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	2060296	90024934	81090133	51	87839											
LAMA4	3910	broad.mit.edu	37	chr6	112486365	112486365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcacgtgcgtccttaccttTattatatcatcaagttctga	9	16	6	10	2	4	1	3	1	1	0	5	1	5	1	2	0	2	1	2	0	5	6			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:112486365T>C	ENST00000230538.7	-	13	2062	c.1665A>G	c.(1663-1665)atA>atG	p.I555M	LAMA4_ENST00000522006.1_Missense_Mutation_p.I548M|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.I548M|LAMA4_ENST00000424408.2_Missense_Mutation_p.I548M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	555	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCTTACCTTTATTATATCAT	0.418													20	44					0	0	0	0	C	112486365	T	C	112486365	3	2	449	1	0	0	0	0	1	0	0	0	8661	1744	61	5	3914	5	LAMA4	6	112486365	Missense_Mutation	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	22461431	112486365	58628702	52	87840											
EPB41L2	2037	broad.mit.edu	37	chr6	131199330	131199330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggattccataaaattgcGcttgagttcactaatgctag	11	14	9	7	1	1	1	1	1	0	0	2	2	2	2	1	1	2	3	1	1	4	7			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:131199330G>A	ENST00000337057.3	-	14	2138	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	653	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATAAAATTGCGCTTGAGTTCA	0.458													17	48					0	0	0	0	A	131199330	G	A	131199330	3	1	449	1	0	0	0	0	1	0	0	0	5191	1087	38	1	1084	1	EPB41L2	6	131199330	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	18712965	131199330	39915737	53	87841											
TCF21	6943	broad.mit.edu	37	chr6	134210907	134210907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacacgctcaggctggcGtccagctacatcgcccactt	7	8	10	16	3	1	0	1	0	0	0	3	1	2	1	2	3	2	3	2	3	1	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:134210907G>A	ENST00000367882.4	+	1	632	c.372G>A	c.(370-372)gcG>gcA	p.A124A	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.A124A	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	124	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCAGGCTGGCGTCCAGCTACA	0.617													56	148					0	0	0	0	A	134210907	G	A	134210907	2	1	449	1	0	0	0	0	0	0	0	1	15785	1132	40	1		1	TCF21	6	134210907	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	3011577	134210907	36904160	54	87842											
WTAP	9589	broad.mit.edu	37	chr6	160176437	160176437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggaggtagtggttacGtaaatcaactcagtgcgggg	11	8	16	6	2	2	1	2	0	0	1	2	2	2	2	0	5	3	4	0	5	5	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:160176437G>A	ENST00000358372.4	+	8	2742	c.985G>A	c.(985-987)Gta>Ata	p.V329I	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	329					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TAGTGGTTACGTAAATCAACT	0.493													17	63					0	0	0	0	A	160176437	G	A	160176437	3	1	449	1	0	0	0	0	1	0	0	0	17505	1145	40	1	1015	1	WTAP	6	160176437	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	25965530	160176437	10938630	55	87843											
CYTH3	9265	broad.mit.edu	37	chr7	6210871	6210871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggttgcacaggcagtagCgagaagcgaaagcctccatc	11	5	14	11	3	0	1	0	0	0	1	2	3	1	1	2	3	4	4	2	3	3	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:6210871C>T	ENST00000350796.3	-	7	660	c.524G>A	c.(523-525)cGc>cAc	p.R175H	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.R90H	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	175	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAGGCAGTAGCGAGAAGCGAA	0.622													31	136					0	0	0	0	T	6210871	C	T	6210871	3	4	449	1	0	0	0	0	1	0	0	0	4237	768	27	1	703	1	CYTH3	7	6210871	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		6210871	152927792	56	87844											
OGDH	4967	broad.mit.edu	37	chr7	44721372	44721372	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgctggccagggcattgtGtacgagaccttccacctcag	7	11	11	12	1	1	1	1	0	0	1	2	2	2	1	4	2	2	3	4	2	1	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:44721372G>A	ENST00000222673.5	+	10	1302	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	OGDH_ENST00000543843.1_Silent_p.V371V|OGDH_ENST00000449767.1_Silent_p.V416V|OGDH_ENST00000447398.1_Silent_p.V431V|OGDH_ENST00000444676.1_Silent_p.V435V|OGDH_ENST00000439616.2_Silent_p.V270V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	420					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGGGCATTGTGTACGAGACCT	0.542													29	112					0	0	0	0	A	44721372	G	A	44721372	2	1	449	1	0	0	0	0	0	0	0	1	10910	1364	48	4		4	OGDH	7	44721372	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	38510501	44721372	114417291	57	87845											
EGFR	1956	broad.mit.edu	37	chr7	55259557	55259557	+	Missense_Mutation	SNP	A	A	G																															agagaaagaataccatgcagAaggaggcaaagtaaggaggt																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:55259557A>G	ENST00000275493.2	+	21	2792	c.2615A>G	c.(2614-2616)gAa>gGa	p.E872G	EGFR_ENST00000454757.2_Missense_Mutation_p.E819G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E827G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	872	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E872G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACCATGCAGAAGGAGGCAAA	0.517		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			45	94					0	0	0	0	G	55259557	A	G	55259557	3	3	449	1	0	0	0	0	1	0	0	0	5003	246	9	5	2961	5	EGFR	7	55259557	Missense_Mutation	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	10538185	55259557	103879106	58	87846	1090	2									
EGFR	1956	broad.mit.edu	37	chr7	55259561	55259561	+	Silent	SNP	A	A	C																															aaagaataccatgcagaaggAggcaaagtaaggaggtggct																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:55259561A>C	ENST00000275493.2	+	21	2796	c.2619A>C	c.(2617-2619)ggA>ggC	p.G873G	EGFR_ENST00000454757.2_Silent_p.G820G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.G828G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	873	Protein kinase.		G -> E (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G873G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGCAGAAGGAGGCAAAGTAA	0.517		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			44	87					0	0	0	0	C	55259561	A	C	55259561	2	2	449	1	0	0	0	0	0	0	0	1	5003	291	11	5		5	EGFR	7	55259561	Silent	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	4	55259561	103879102	59	87847	1090	2									
HIP1	3092	broad.mit.edu	37	chr7	75182847	75182847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggaggccaggtaggCgagggtttccctgccatact	7	8	14	12	1	0	0	0	0	0	0	2	2	2	1	4	5	2	2	4	5	2	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:75182847C>T	ENST00000336926.6	-	22	2226	c.2200G>A	c.(2200-2202)Gcc>Acc	p.A734T	HIP1_ENST00000434438.2_Missense_Mutation_p.A734T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	734					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCAGGTAGGCGAGGGTTTCC	0.547			T	PDGFRB	CMML								5	100					0	0	0	0	T	75182847	C	T	75182847	3	4	449	1	0	0	0	0	1	0	0	0	7164	768	27	1	953	1	HIP1	7	75182847	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	19923286	75182847	83955816	60	87848											
STAG3	10734	broad.mit.edu	37	chr7	99802998	99802998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccagctccaagaggaggCgcgttgaaggtagggtgctg	8	7	16	10	2	0	2	0	1	0	1	2	3	2	3	3	4	2	4	3	4	3	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:99802998C>T	ENST00000426455.1	+	29	3636	c.3229C>T	c.(3229-3231)Cgc>Tgc	p.R1077C	STAG3_ENST00000317296.5_Missense_Mutation_p.R1077C|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.R1019C|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1077					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAGGAGGCGCGTTGAAGG	0.582													10	46					0	0	0	0	T	99802998	C	T	99802998	3	4	449	1	0	0	0	0	1	0	0	0	15334	768	27	1	3339	1	STAG3	7	99802998	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	24620151	99802998	59335665	61	87849											
CUX1	1523	broad.mit.edu	37	chr7	101918550	101918550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccagcggtgccctcccaGagggccaggtggattcactg	7	6	14	14	1	1	1	1	0	0	1	2	2	2	2	4	4	3	0	4	4	0	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:101918550G>A	ENST00000437600.4	+	17	1829	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.E479K|CUX1_ENST00000393824.3_Missense_Mutation_p.E456K|CUX1_ENST00000292538.4_Missense_Mutation_p.E495K|CUX1_ENST00000425244.2_Missense_Mutation_p.E449K	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	311					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGCCCTCCCAGAGGGCCAGGT	0.647													25	111					0	0	0	0	A	101918550	G	A	101918550	3	1	449	1	0	0	0	0	1	0	0	0	4096	943	33	2	4919	2	CUX1	7	101918550	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	2115552	101918550	57220113	62	87850											
TAS2R38	5726	broad.mit.edu	37	chr7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacccctattttgtcgCgccacagaatcagtaggggc	9	9	9	14	2	2	1	2	0	0	1	3	1	2	1	4	2	0	1	4	2	3	4	rs139085046	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502													18	81					0	0	0	0	T	141672669	C	T	141672669	3	4	449	1	0	0	0	0	1	0	0	0	15666	768	27	1	184	1	TAS2R38	7	141672669	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	39754119	141672669	17465994	63	87851											
SSPO	23145	broad.mit.edu	37	chr7	149524048	149524048	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccctcgttgactgtcagGgtgagatgtggctgtccatg	5	12	14	10	1	1	2	1	2	0	1	4	3	3	2	2	2	0	3	2	2	0	1	rs113242894		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:149524048G>C	ENST00000378016.2	+	0	14770							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGACTGTCAGGGTGAGATGTG	0.602													73	115					0	0	0	0	C	149524048	G	C	149524048	1	2	449	0	1	0	0	0	0	0	0	0	15279	1246	43	4		4	SSPO	7	149524048	RNA	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	7851379	149524048	9614615	64	87852											
TSPYL5	85453	broad.mit.edu	37	chr8	98289480	98289480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatccatgctgccttccGtcgctgggggccccgaccct	3	9	12	17	4	0	0	0	0	0	0	3	1	2	0	6	2	2	3	6	2	1	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr8:98289480G>A	ENST00000322128.3	-	1	696	c.593C>T	c.(592-594)aCg>aTg	p.T198M		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	198					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCTGCCTTCCGTCGCTGGGGG	0.622													27	86					0	0	0	0	A	98289480	G	A	98289480	3	1	449	1	0	0	0	0	1	0	0	0	16757	1145	40	1	664	1	TSPYL5	8	98289480	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08		98289480	48074542	65	87853											
GLDC	2731	broad.mit.edu	37	chr9	6553457	6553457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacaggcatcctcattccGctttagtgaaatgacgggat	11	10	11	9	2	1	2	1	2	0	0	3	4	3	4	2	3	0	2	2	3	2	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:6553457G>A	ENST00000321612.6	-	20	2518	c.2368C>T	c.(2368-2370)Cgg>Tgg	p.R790W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	790					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCCTCATTCCGCTTTAGTGAA	0.478													21	70					0	0	0	0	A	6553457	G	A	6553457	3	1	449	1	0	0	0	0	1	0	0	0	6484	1086	38	1	718	1	GLDC	9	6553457	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08		6553457	134659974	66	87854											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			27	22					0	0	0	0	A	21971120	G	A	21971120	4	1	449	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	15417663	21971120	119242311	67	87855											
C9orf3	84909	broad.mit.edu	37	chr9	97717510	97717510	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgggagcatctgttatCaagcatggacttaatccgga	11	10	11	9	2	2	0	1	0	1	0	4	4	3	3	1	3	2	3	1	3	3	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:97717510C>A	ENST00000375315.2	+	7	1713	c.1713C>A	c.(1711-1713)atC>atA	p.I571I	C9orf3_ENST00000297979.5_Silent_p.I472I	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	571					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CATCTGTTATCAAGCATGGAC	0.393													9	74					0.000274275	0.000281047	1	0	A	97717510	C	A	97717510	2	1	449	1	0	0	0	0	0	0	0	1	2502	816	29	2		2	C9orf3	9	97717510	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	75746390	97717510	43495921	68	87856											
EPB41L4B	54566	broad.mit.edu	37	chr9	111956584	111956584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggacggcagcggcacGgagacttgtgtggcggccgt	5	7	20	9	5	0	1	0	0	0	1	0	3	0	2	1	7	1	2	1	7	0	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:111956584G>A	ENST00000374566.3	-	21	2656	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	713						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGCGGCACGGAGACTTGTG	0.612													6	146					0	0	0	0	A	111956584	G	A	111956584	2	1	449	1	0	0	0	0	0	0	0	1	5194	1103	39	1		1	EPB41L4B	9	111956584	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	14239074	111956584	29256847	69	87857											
DAB2IP	153090	broad.mit.edu	37	chr9	124528890	124528890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctcttcctgcgcttcctCtgcccagccatcatgtcgcc	3	12	6	20	2	3	0	1	0	2	0	7	0	6	0	6	0	3	1	6	0	0	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:124528890C>T	ENST00000408936.3	+	9	1760	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	DAB2IP_ENST00000309989.1_Silent_p.L402L|DAB2IP_ENST00000259371.2_Silent_p.L498L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	526	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGCGCTTCCTCTGCCCAGCCA	0.632													41	183					0	0	0	0	T	124528890	C	T	124528890	2	4	449	1	0	0	0	0	0	0	0	1	4252	900	32	2		2	DAB2IP	9	124528890	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	12572306	124528890	16684541	70	87858											
SLC25A25	114789	broad.mit.edu	37	chr9	130868110	130868110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggcaatggcatcaacGtcctcaaaattgcccccgaa	11	6	11	13	3	2	0	2	0	0	0	3	1	3	0	3	4	2	2	3	4	5	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:130868110G>A	ENST00000373066.5	+	7	1251	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	SLC25A25_ENST00000373064.5_Missense_Mutation_p.V250I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.V270I|SLC25A25_ENST00000373068.2_Missense_Mutation_p.V284I|SLC25A25_ENST00000373069.5_Missense_Mutation_p.V296I|SLC25A25_ENST00000433501.1_Missense_Mutation_p.V147I	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	250					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TGGCATCAACGTCCTCAAAAT	0.582													12	85					0	0	0	0	A	130868110	G	A	130868110	3	1	449	1	0	0	0	0	1	0	0	0	14576	1145	40	1	1258	1	SLC25A25	9	130868110	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	6339220	130868110	10345321	71	87859											
NOTCH1	4851	broad.mit.edu	37	chr9	139410452	139410452	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccgtgcacacacaggtGtaagtgttgggtccgtccag	7	10	12	12	2	0	0	0	0	0	0	3	0	3	0	4	2	1	3	4	2	1	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:139410452G>T	ENST00000277541.6	-	10	1725	c.1650C>A	c.(1648-1650)taC>taA	p.Y550*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	550	EGF-like 14; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACACACAGGTGTAAGTGTTGG	0.632			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	49					0.00198382	0.00202033	1	0	T	139410452	G	T	139410452	4	4	449	1	0	0	0	0	0	1	0	0	10617	1372	48	4	6117	4	NOTCH1	9	139410452	Nonsense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	8542342	139410452	1802979	72	87860											
GATA3	2625	broad.mit.edu	37	chr10	8106041	8106041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactacctgtgcaacgcctgCgggctctatcacaaaatgaa	12	8	8	13	2	2	1	1	1	1	0	2	1	2	1	2	1	4	2	2	1	6	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:8106041C>T	ENST00000379328.3	+	4	1432	c.864C>T	c.(862-864)tgC>tgT	p.C288C	GATA3_ENST00000346208.3_Silent_p.C287C|GATA3_ENST00000461472.1_Intron	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	287					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCAACGCCTGCGGGCTCTATC	0.567			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						29	98					0	0	0	0	T	8106041	C	T	8106041	2	4	449	1	0	0	0	0	0	0	0	1	6304	776	27	1		1	GATA3	10	8106041	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		8106041	127428706	73	87861											
ARMC3	219681	broad.mit.edu	37	chr10	23290888	23290888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcccctggtagagctgcTacgctccaagaatgatgaag	11	7	13	10	1	0	4	0	2	0	2	1	5	1	5	3	2	4	4	3	2	5	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:23290888T>C	ENST00000298032.5	+	12	1550	c.1466T>C	c.(1465-1467)cTa>cCa	p.L489P	ARMC3_ENST00000376528.4_Missense_Mutation_p.L226P|ARMC3_ENST00000409983.3_Missense_Mutation_p.L489P|ARMC3_ENST00000409049.3_Missense_Mutation_p.L489P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	489							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAGAGCTGCTACGCTCCAAG	0.463													11	37					0	0	0	0	C	23290888	T	C	23290888	3	2	449	1	0	0	0	0	1	0	0	0	956	1522	53	5	1508	5	ARMC3	10	23290888	Missense_Mutation	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	15184847	23290888	112243859	74	87862											
SVIL	6840	broad.mit.edu	37	chr10	29751238	29751238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcgatgtcctctctgtGctcccagctgggaaacatat	8	11	9	13	1	2	0	1	0	1	0	5	2	4	1	2	1	4	2	2	1	2	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:29751238G>A	ENST00000375398.2	-	38	6819	c.6370C>T	c.(6370-6372)Cac>Tac	p.H2124Y	SVIL_ENST00000535393.1_Missense_Mutation_p.H1038Y|SVIL_ENST00000355867.4_Missense_Mutation_p.H2124Y|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.H1698Y|PTCHD3P1_ENST00000413405.1_RNA			O95425	SVIL_HUMAN	supervillin	2124					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCTCTCTGTGCTCCCAGCTG	0.498													28	81					0	0	0	0	A	29751238	G	A	29751238	3	1	449	1	0	0	0	0	1	0	0	0	15511	1319	46	4	286	4	SVIL	10	29751238	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	6460350	29751238	105783509	75	87863											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407581	75407581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagagatgcgctgctcgCgagcgctggggggctcagga	7	5	18	11	4	1	1	1	0	0	1	2	4	1	2	0	4	3	5	0	4	0	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:75407581C>T	ENST00000394810.2	-	4	1978	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	610	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCGCTGCTCGCGAGCGCTGGG	0.706													20	89					0	0	0	0	T	75407581	C	T	75407581	3	4	449	1	0	0	0	0	1	0	0	0	15549	768	27	1	1108	1	SYNPO2L	10	75407581	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	45656343	75407581	60127166	76	87864											
NUP98	4928	broad.mit.edu	37	chr11	3800201	3800201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaacaaggtatttgctgttCctgttgacgtaccaaaccca	12	11	7	11	1	0	1	0	1	0	0	1	1	1	1	3	1	4	5	3	1	5	5			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:3800201C>A	ENST00000324932.7	-	4	677	c.257G>T	c.(256-258)gGa>gTa	p.G86V	NUP98_ENST00000359171.4_Missense_Mutation_p.G86V|NUP98_ENST00000397004.4_Missense_Mutation_p.G86V|NUP98_ENST00000397007.4_Missense_Mutation_p.G86V|NUP98_ENST00000355260.3_Missense_Mutation_p.G86V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	86	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATTTGCTGTTCCTGTTGACGT	0.483			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								18	64					0.0332995	0.0335013	1	0	A	3800201	C	A	3800201	3	1	449	1	0	0	0	0	1	0	0	0	10844	855	30	2	5337	2	NUP98	11	3800201	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		3800201	131206315	77	87865											
UBQLN3	50613	broad.mit.edu	37	chr11	5530115	5530115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatcatggcagggttaCgtaaaaactccagtgtctgc	10	10	10	11	1	2	0	1	0	1	0	3	0	3	0	2	2	4	4	2	2	4	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:5530115C>T	ENST00000311659.4	-	2	821	c.674G>A	c.(673-675)cGt>cAt	p.R225H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	225										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGGGTTACGTAAAAACTC	0.498													28	72					0	0	0	0	T	5530115	C	T	5530115	3	4	449	1	0	0	0	0	1	0	0	0	16994	536	19	1	1297	1	UBQLN3	11	5530115	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	1729914	5530115	129476401	78	87866											
TRIM48	79097	broad.mit.edu	37	chr11	55036813	55036813	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggctcaaccaattctGaggtaagtctccacccacag	12	7	9	13	0	3	1	1	1	2	0	4	2	3	2	3	3	1	2	3	3	3	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:55036813G>T	ENST00000417545.2	+	5	760	c.674G>T	c.(673-675)tGa>tTa	p.*225L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	0						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACCAATTCTGAGGTAAGTCT	0.478													9	43					1.12685e-05	1.17646e-05	1	0	T	55036813	G	T	55036813	4	4	449	1	0	0	0	0	0	0	0	0	16618	1285	45	2	692	2	TRIM48	11	55036813	Nonstop_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	49506698	55036813	79969703	79	87867											
OR4C11	219429	broad.mit.edu	37	chr11	55370996	55370996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctgcattcctcagtgtgTagatgagtggattgagaaag	10	13	12	6	0	2	3	1	2	1	2	3	5	3	4	1	1	1	2	1	1	2	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:55370996T>C	ENST00000302231.4	-	1	878	c.854A>G	c.(853-855)tAc>tGc	p.Y285C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCTCAGTGTGTAGATGAGTGG	0.403													20	11					0	0	0	0	C	55370996	T	C	55370996	3	2	449	1	0	0	0	0	1	0	0	0	11116	1638	57	5	80	5	OR4C11	11	55370996	Missense_Mutation	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	334183	55370996	79635520	80	87868											
LRP5	4041	broad.mit.edu	37	chr11	68115508	68115508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacctacctgaaccagacGggggccgccgtgcagaacgt	10	4	13	14	4	0	4	0	1	0	3	0	4	0	4	5	2	4	1	5	2	3	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:68115508G>A	ENST00000294304.7	+	2	391	c.285G>A	c.(283-285)acG>acA	p.T95T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	95	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACCAGACGGGGGCCGCCG	0.632													4	204					0	0	0	0	A	68115508	G	A	68115508	2	1	449	1	0	0	0	0	0	0	0	1	9024	1103	39	1		1	LRP5	11	68115508	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	12744512	68115508	66891008	81	87869											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020819	73020819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggccaaggtgagctttccctCgtacctggccagccccgcag	6	7	12	16	2	0	1	0	1	0	0	2	1	1	1	6	3	3	3	6	3	2	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:73020819C>G	ENST00000263674.3	+	1	1486	c.1136C>G	c.(1135-1137)tCg>tGg	p.S379W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	379					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCTTTCCCTCGTACCTGGCC	0.642													26	63					0	0	0	0	G	73020819	C	G	73020819	3	3	449	1	0	0	0	0	1	0	0	0	902	893	31	3	1138	3	ARHGEF17	11	73020819	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	4905311	73020819	61985697	82	87870											
LRRC32	2615	broad.mit.edu	37	chr11	76371962	76371962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcgatgctgttgcagctCaggtctagcacccgcagctg	6	9	12	14	2	2	0	1	0	1	0	3	1	2	0	2	1	5	7	2	1	1	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:76371962C>T	ENST00000407242.2	-	3	917	c.675G>A	c.(673-675)ctG>ctA	p.L225L	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.L225L|LRRC32_ENST00000404995.1_Silent_p.L225L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	225						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTTGCAGCTCAGGTCTAGCA	0.612													23	74					0	0	0	0	T	76371962	C	T	76371962	2	4	449	1	0	0	0	0	0	0	0	1	9051	813	29	2		2	LRRC32	11	76371962	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	3351143	76371962	58634554	83	87871											
FOXM1	2305	broad.mit.edu	37	chr12	2983350	2983350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgggcccactactgcCactctcttttcccttggcag	4	15	8	14	0	1	0	0	0	1	0	3	0	2	0	3	2	2	2	3	2	1	6			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:2983350C>A	ENST00000342628.2	-	2	408	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C	FOXM1_ENST00000359843.3_Missense_Mutation_p.G99C|FOXM1_ENST00000361953.3_Missense_Mutation_p.G99C	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	99					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CCACTACTGCCACTCTCTTTT	0.537													48	73					1.47857e-17	1.62545e-17	1	0	A	2983350	C	A	2983350	3	1	449	1	0	0	0	0	1	0	0	0	6065	594	21	4	2146	4	FOXM1	12	2983350	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		2983350	130868545	84	87872											
TAS2R20	259295	broad.mit.edu	37	chr12	11150472	11150472	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtgtagaaaactcatCatgtctaaacaaaaaagcaa	21	8	5	7	0	3	1	2	0	1	1	3	1	3	1	0	0	3	2	0	0	10	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:11150472C>A	ENST00000538986.1	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	1					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GAAAACTCATCATGTCTAAAC	0.328													4	34					0.00024832	0.000256032	1	0	A	11150472	C	A	11150472	1	1	449	1	0	0	0	0	0	0	0	0	15662	826	29	2		2	TAS2R20	12	11150472	Translation_Start_Site	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	8167122	11150472	122701423	85	87873											
TAS2R30	259293	broad.mit.edu	37	chr12	11285960	11285960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccagtacctcacatgcCgcaaaactgaaagaaaaatc	17	6	5	13	1	2	2	2	1	0	1	3	2	2	2	3	0	3	2	3	0	6	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:11285960C>T	ENST00000539585.1	-	1	1283	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CCTCACATGCCGCAAAACTGA	0.428													33	192					0	0	0	0	T	11285960	C	T	11285960	3	4	449	1	0	0	0	0	1	0	0	0	15664	652	23	1	79	1	TAS2R30	12	11285960	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	135488	11285960	122565935	86	87874											
PFKM	5213	broad.mit.edu	37	chr12	48535703	48535703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcttcttaggcttacAcagggggcctggaactgatg	7	13	11	10	0	3	1	0	1	3	0	4	2	3	2	1	4	2	1	1	4	3	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:48535703A>G	ENST00000340802.6	+	19	1944	c.1720A>G	c.(1720-1722)Aca>Gca	p.T574A	PFKM_ENST00000551804.1_Missense_Mutation_p.T472A|PFKM_ENST00000395233.2_Missense_Mutation_p.T472A|PFKM_ENST00000359794.5_Missense_Mutation_p.T503A|PFKM_ENST00000312352.7_Missense_Mutation_p.T503A|PFKM_ENST00000547587.1_Missense_Mutation_p.T503A	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	503					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						tTAGGCTTACACAGGGGGCCT	0.547													22	42					0	0	0	0	G	48535703	A	G	48535703	3	3	449	1	0	0	0	0	1	0	0	0	11837	159	6	5	1790	5	PFKM	12	48535703	Missense_Mutation	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	37249743	48535703	85316192	87	87875											
PTPRB	5787	broad.mit.edu	37	chr12	70963656	70963656	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaccaggagtccagtTcaccgtcaggctatctgttg	7	10	9	15	1	3	0	2	0	1	0	5	1	5	1	5	2	0	3	5	2	1	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:70963656T>A	ENST00000334414.6	-	14	3477	c.3433A>T	c.(3433-3435)Aac>Tac	p.N1145Y	PTPRB_ENST00000551525.1_Missense_Mutation_p.N1144Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.N837Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1057Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.N927Y|PTPRB_ENST00000261266.5_Missense_Mutation_p.N927Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.N837Y	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	927	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAGTCCAGTTCACCGTCAGG	0.438													10	45					0	0	0	0	A	70963656	T	A	70963656	3	1	449	1	0	0	0	0	1	0	0	0	12878	1783	62	5	3298	5	PTPRB	12	70963656	Missense_Mutation	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	22427953	70963656	62888239	88	87876											
CORO1C	23603	broad.mit.edu	37	chr12	109051080	109051080	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctggggagggcgtacCggattccagagagccagctg	10	5	16	10	2	0	1	0	0	0	1	1	4	1	3	4	4	4	2	4	4	2	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:109051080C>T	ENST00000261401.3	-	6	922	c.750_splice	c.e6+1	p.P250_splice	CORO1C_ENST00000541050.1_Splice_Site_p.P250_splice|CORO1C_ENST00000549772.1_Splice_Site_p.P256_splice|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Splice_Site_p.P145_splice|CORO1C_ENST00000420959.2_Splice_Site_p.P303_splice	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	250					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GAGGGCGTACCGGATTCCAGA	0.532													23	112					0	0	0	0	T	109051080	C	T	109051080	5	4	449	1	0	0	0	0	0	0	1	0	3785	666	23	1	698	1	CORO1C	12	109051080	Splice_Site	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	38087424	109051080	24800815	89	87877											
CPB2	1361	broad.mit.edu	37	chr13	46629916	46629916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cataaggtttctgagccatgGccatgtgtatacctggtatt	9	14	10	8	0	1	1	0	1	1	0	1	1	1	1	3	3	2	3	3	3	4	6			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:46629916G>A	ENST00000181383.4	-	10	1084	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	CPB2_ENST00000439329.3_Silent_p.G319G|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	356					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTGAGCCATGGCCATGTGTAT	0.338													8	43					0	0	0	0	A	46629916	G	A	46629916	2	1	449	1	0	0	0	0	0	0	0	1	3827	1190	42	4		4	CPB2	13	46629916	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08		46629916	68539962	90	87878											
SLC10A2	6555	broad.mit.edu	37	chr13	103698602	103698602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccatgacatttcttgtatgCcacataaactagaaaacaat	16	12	4	9	0	1	2	0	1	1	1	2	2	2	2	2	0	3	1	2	0	7	5			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:103698602C>T	ENST00000245312.3	-	6	1524	c.928G>A	c.(928-930)Gca>Aca	p.A310T		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	310					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCTTGTATGCCACATAAACT	0.328													3	26					0	0	0	0	T	103698602	C	T	103698602	3	4	449	1	0	0	0	0	1	0	0	0	14462	739	26	4	122	4	SLC10A2	13	103698602	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	57068686	103698602	11471276	91	87879											
SLC10A2	6555	broad.mit.edu	37	chr13	103710685	103710685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagataaggaggcacagcGgcatcattccgagggcaagc	13	6	13	9	2	1	1	1	0	0	1	2	3	2	2	1	4	2	3	1	4	4	4	rs117447044	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:103710685G>A	ENST00000245312.3	-	2	1021	c.425C>T	c.(424-426)cCg>cTg	p.P142L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	142					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.P142L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAGGCACAGCGGCATCATTCC	0.483													19	61					0	0	0	0	A	103710685	G	A	103710685	3	1	449	1	0	0	0	0	1	0	0	0	14462	1116	39	1	641	1	SLC10A2	13	103710685	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	12083	103710685	11459193	92	87880											
SYNE2	23224	broad.mit.edu	37	chr14	64519872	64519872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctctccggaaagcagaCggctcaatgcccaaatttta	13	9	8	11	2	2	1	1	0	1	1	3	2	2	2	2	2	3	3	2	2	5	3	rs150085946	by1000genomes	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:64519872C>G	ENST00000358025.3	+	48	9471	c.9241C>G	c.(9241-9243)Cgg>Ggg	p.R3081G	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R3081G|SYNE2_ENST00000554584.1_Missense_Mutation_p.R3114G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3081					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAAAGCAGACGGCTCAATGC	0.333													12	48					0	0	0	0	G	64519872	C	G	64519872	3	3	449	1	0	0	0	0	1	0	0	0	15537	527	19	3	9427	3	SYNE2	14	64519872	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		64519872	42829668	93	87881											
TMED10	10972	broad.mit.edu	37	chr14	75602474	75602474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcaccgttggtatcaCgcatctcctcttctctcttc	4	14	4	19	2	6	0	2	0	4	0	9	0	6	0	4	1	0	3	4	1	1	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:75602474C>T	ENST00000303575.4	-	4	578	c.527G>A	c.(526-528)cGt>cAt	p.R176H	TMED10_ENST00000557670.1_5'UTR|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	176	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GTTGGTATCACGCATCTCCTC	0.433													17	44					0	0	0	0	T	75602474	C	T	75602474	3	4	449	1	0	0	0	0	1	0	0	0	16097	536	19	1	140	1	TMED10	14	75602474	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	11082602	75602474	31747066	94	87882											
NRXN3	9369	broad.mit.edu	37	chr14	80130227	80130227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataccatgtggtacgcttcaCcaggaacggcggcaacgcca	11	6	11	13	4	1	0	1	0	0	0	1	1	1	1	3	4	4	3	3	4	4	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:80130227C>A	ENST00000281127.7	+	3	1415	c.536C>A	c.(535-537)aCc>aAc	p.T179N	NRXN3_ENST00000428277.2_Missense_Mutation_p.T179N|NRXN3_ENST00000557594.1_Missense_Mutation_p.T179N|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.T811N|NRXN3_ENST00000335750.5_Missense_Mutation_p.T811N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	179	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTACGCTTCACCAGGAACGGC	0.483													11	32					5.50884e-06	5.78777e-06	1	0	A	80130227	C	A	80130227	3	1	449	1	0	0	0	0	1	0	0	0	10738	507	18	4	2729	4	NRXN3	14	80130227	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	4527753	80130227	27219313	95	87883											
TP53BP1	7158	broad.mit.edu	37	chr15	43783898	43783898	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctgaggtaactgctCaatgacctgactgatggaac	10	11	12	8	0	1	4	1	4	0	0	1	5	1	5	1	3	3	4	1	3	3	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:43783898C>A	ENST00000263801.3	-	4	577	c.325G>T	c.(325-327)Gag>Tag	p.E109*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E114*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E114*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E114*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	109					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTAACTGCTCAATGACCTGA	0.378								Other conserved DNA damage response genes					94	158					5.66435e-50	6.31062e-50	1	0	A	43783898	C	A	43783898	4	1	449	1	0	0	0	0	0	1	0	0	16478	835	29	2	5693	2	TP53BP1	15	43783898	Nonsense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		43783898	58747494	96	87884											
SPPL2A	84888	broad.mit.edu	37	chr15	51014390	51014390	+	Frame_Shift_Del	DEL	T	T	-																															aaatcttctacagtatgcaaTcaacaggccttaaaaacaaa																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:51014390delT	ENST00000261854.5	-	13	1532	c.1258delA	c.(1258-1260)ttfs	p.I420fs	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	420						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CAGTATGCAATCAACAGGCCT	0.264													9	43	---	---	---	---					-	51014390	T	-	51014390	7	5	449	1	0	1	0	1	0	0	0	0	15178	1435	50	0	316	0	SPPL2A	15	51014390	Frame_Shift_Del	DEL	T	TCGA-MT-A67A-01A-11D-A30E-08	7230492	51014390	51517002	97	87885											
AP4E1	23431	broad.mit.edu	37	chr15	51233739	51233739	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaatttgttctgtcaccTaaaataaatctaaaatattt	17	15	4	5	0	3	0	1	0	2	0	3	1	3	1	1	1	0	1	1	1	9	7			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:51233739T>G	ENST00000261842.5	+	9	1150	c.1044T>G	c.(1042-1044)ccT>ccG	p.P348P	AP4E1_ENST00000560508.1_Silent_p.P273P	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	348					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTCTGTCACCTAAAATAAATC	0.303													9	21					0	0	0	0	G	51233739	T	G	51233739	2	3	449	1	0	0	0	0	0	0	0	1	753	1509	53	5		5	AP4E1	15	51233739	Silent	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	219349	51233739	51297653	98	87886											
LINGO1	84894	broad.mit.edu	37	chr15	77906613	77906613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggaaaggcacagtggCgcgggtgctgttggcctctc	7	7	18	9	2	1	0	0	0	1	0	2	2	1	1	1	6	1	3	1	6	2	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:77906613C>T	ENST00000355300.6	-	2	1810	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A540T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	546					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGCACAGTGGCGCGGGTGCTG	0.617													18	97					0	0	0	0	T	77906613	C	T	77906613	3	4	449	1	0	0	0	0	1	0	0	0	8869	768	27	1	230	1	LINGO1	15	77906613	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	26672874	77906613	24624779	99	87887											
C15orf32	145858	broad.mit.edu	37	chr15	93043602	93043602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagggaacatttaataaGatacagaaaccagatttgct	16	13	7	5	0	0	3	0	0	0	3	0	4	0	4	1	1	4	1	1	1	6	7			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:93043602G>T	ENST00000333334.2	+	3	1004	c.509G>T	c.(508-510)aGa>aTa	p.R170I	C15orf32_ENST00000556865.1_3'UTR	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	170										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CATTTAATAAGATACAGAAAC	0.453													18	115					7.45023e-12	8.08325e-12	1	0	T	93043602	G	T	93043602	3	4	449	1	0	0	0	0	1	0	0	0	1802	942	33	2	519	2	C15orf32	15	93043602	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	15136989	93043602	9487790	100	87888											
ABCA3	21	broad.mit.edu	37	chr16	2334301	2334301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttcttgcagtagtgggCggcgacctcggaggaggtgc	7	10	16	8	3	1	0	0	0	1	0	2	3	1	2	1	5	2	2	1	5	2	4	rs141745439	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:2334301C>T	ENST00000301732.5	-	25	4541	c.3841G>A	c.(3841-3843)Gcc>Acc	p.A1281T	ABCA3_ENST00000382381.3_Missense_Mutation_p.A1223T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1281					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGTAGTGGGCGGCGACCTCG	0.627													17	50					0	0	0	0	T	2334301	C	T	2334301	3	4	449	1	0	0	0	0	1	0	0	0	33	768	27	1	1309	1	ABCA3	16	2334301	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		2334301	88020452	101	87889											
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	3	2	15	21	8	1	1	1	0	0	1	1	2	1	1	9	2	2	2	9	2	0	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													3	14					0	0	0	0	C	18937330	T	C	18937330	3	2	449	1	0	0	0	0	1	0	0	0	14883	1580	55	5	11203	5	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	16603029	18937330	71417423	102	87890											
ACSM1	116285	broad.mit.edu	37	chr16	20636834	20636834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcaacctctgcaggccCgatgcgatacctggaggatg	8	9	12	12	2	2	0	1	0	1	0	2	4	2	2	3	3	4	2	3	3	2	2	rs145170042		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:20636834C>T	ENST00000219151.4	-	12	1601	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	ACSM1_ENST00000307493.4_Missense_Mutation_p.G480R|ACSM1_ENST00000520010.1_Missense_Mutation_p.G480R			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	480					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCTGCAGGCCCGATGCGATAC	0.617													10	27					0	0	0	0	T	20636834	C	T	20636834	3	4	449	1	0	0	0	0	1	0	0	0	182	652	23	1	307	1	ACSM1	16	20636834	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	1699504	20636834	69717919	103	87891											
PYDC1	260434	broad.mit.edu	37	chr16	31228091	31228091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtggccctcacgcagcccGctgcagccgtgcggcctcct	4	6	13	18	4	1	0	1	0	0	0	2	1	2	0	5	2	4	3	5	2	0	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:31228091G>A	ENST00000302964.3	-	1	589	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	87	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CACGCAGCCCGCTGCAGCCGT	0.677													22	61					0	0	0	0	A	31228091	G	A	31228091	3	1	449	1	0	0	0	0	1	0	0	0	12940	1086	38	1	14	1	PYDC1	16	31228091	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	10591257	31228091	59126662	104	87892											
HPR	3250	broad.mit.edu	37	chr16	72108202	72108202	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgaccgcttcccgaagccCcctgagattgcaaatggcta	10	8	10	13	2	0	2	0	2	0	1	1	5	1	2	4	1	2	3	4	1	3	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:72108202C>G	ENST00000540303.2	+	3	143	c.111C>G	c.(109-111)ccC>ccG	p.P37P	HPR_ENST00000561690.1_Silent_p.P37P|HPR_ENST00000228226.8_Silent_p.P74P|HPR_ENST00000356967.5_Silent_p.P37P	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	37	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCCCGAAGCCCCCTGAGATTG	0.478													19	83					0	0	0	0	G	72108202	C	G	72108202	2	3	449	1	0	0	0	0	0	0	0	1	7387	610	22	4		4	HPR	16	72108202	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	40880111	72108202	18246551	105	87893											
SLC46A1	113235	broad.mit.edu	37	chr17	26731758	26731758	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagcttcagggccagCaggctggtgaggtaggggag	8	6	20	7	0	1	1	1	1	0	0	1	3	1	3	1	7	3	5	1	7	1	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:26731758C>A	ENST00000440501.1	-	2	1052	c.957G>T	c.(955-957)ctG>ctT	p.L319L	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.L319L	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	319					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TCAGGGCCAGCAGGCTGGTGA	0.562													14	35					7.93312e-07	8.44165e-07	1	0	A	26731758	C	A	26731758	2	1	449	1	0	0	0	0	0	0	0	1	14732	697	25	4		4	SLC46A1	17	26731758	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08		26731758	54463452	106	87894											
KAT2A	2648	broad.mit.edu	37	chr17	40267773	40267773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagccgatggcgtactcgtCggcgtaggtgaggaagtaga	9	8	17	7	5	0	2	0	1	0	1	2	4	0	3	1	4	2	4	1	4	5	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:40267773C>T	ENST00000225916.5	-	12	1896	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	615	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCGTACTCGTCGGCGTAGGTG	0.572													25	98					0	0	0	0	T	40267773	C	T	40267773	3	4	449	1	0	0	0	0	1	0	0	0	8034	884	31	1	698	1	KAT2A	17	40267773	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	13536015	40267773	40927437	107	87895											
VEZF1	7716	broad.mit.edu	37	chr17	56059289	56059290	+	Frame_Shift_Ins	INS	-	-	GGTCA																															ttttacatgacagcttaagtINSggtcaggcctgtgaaaaaga																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:56059289_56059290insGGTCA	ENST00000584396.1	-	3	797_798	c.709_710insTGACC	c.(709-711)cttfs	p.L237fs	VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.L246fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	246					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ACAGCTTAAGTGGTCAGGCCTG	0.391													9	54	---	---	---	---					GGTCA	56059290	-	GGTCA	56059289	7	5	449	1	0	1	1	0	0	0	0	0	17251	1696	59	0	844	0	VEZF1	17	56059289	Frame_Shift_Ins	INS	-	TCGA-MT-A67A-01A-11D-A30E-08	15791516	56059289	25135921	108	87896											
KCNJ2	3759	broad.mit.edu	37	chr17	68172048	68172048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaacaggacattgacaacGcagactttgaaatcgtggtc	14	9	10	8	2	0	3	0	2	0	1	2	4	0	4	0	2	2	2	0	2	4	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:68172048G>A	ENST00000243457.3	+	2	1251	c.868G>A	c.(868-870)Gca>Aca	p.A290T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A290T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	290					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.A290T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CATTGACAACGCAGACTTTGA	0.438													4	105					0	0	0	0	A	68172048	G	A	68172048	3	1	449	1	0	0	0	0	1	0	0	0	8104	1087	38	1	870	1	KCNJ2	17	68172048	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	12112759	68172048	13023162	109	87897											
SOX9	6662	broad.mit.edu	37	chr17	70120487	70120487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagacccacagcccccagCactgggaacaacccgtctac	11	3	8	19	2	1	1	0	0	1	1	1	2	1	2	4	1	5	2	4	1	3	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:70120487C>A	ENST00000245479.2	+	3	1861	c.1489C>A	c.(1489-1491)Cac>Aac	p.H497N		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	497					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAGCCCCCAGCACTGGGAACA	0.597													21	80					4.26978e-12	4.66305e-12	1	0	A	70120487	C	A	70120487	3	1	449	1	0	0	0	0	1	0	0	0	15046	710	25	4	1499	4	SOX9	17	70120487	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	1948439	70120487	11074723	110	87898											
ATP8B1	5205	broad.mit.edu	37	chr18	55328606	55328606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctagcctccttttactttggGtccgcatccgtctttcttct	3	18	6	14	2	3	0	0	0	3	0	6	0	6	0	4	1	2	1	4	1	2	6			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr18:55328606G>A	ENST00000536015.1	-	22	2626	c.2507C>T	c.(2506-2508)aCc>aTc	p.T836I	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T836I|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	836					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTTACTTTGGGTCCGCATCCG	0.473													17	67					0	0	0	0	A	55328606	G	A	55328606	3	1	449	1	0	0	0	0	1	0	0	0	1198	1261	44	4	1276	4	ATP8B1	18	55328606	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08		55328606	22748642	111	87899											
GRIN3B	116444	broad.mit.edu	37	chr19	1003546	1003546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccagggctgctggcgctgGgcgaggtggcacgacccccg	5	4	17	15	4	0	0	0	0	0	0	0	2	0	0	3	5	1	4	3	5	0	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:1003546G>A	ENST00000234389.3	+	2	863	c.844G>A	c.(844-846)Ggc>Agc	p.G282S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	282					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCTGGCGCTGGGCGAGGTGGC	0.741													3	3					0	0	0	0	A	1003546	G	A	1003546	3	1	449	1	0	0	0	0	1	0	0	0	6834	1232	43	4	850	4	GRIN3B	19	1003546	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08		1003546	58125437	112	87900											
GNA11	2767	broad.mit.edu	37	chr19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgaccgacgttgaccGcatcgccaccttgggctacc	7	8	9	17	4	0	2	0	2	0	0	1	3	0	2	6	1	2	3	6	1	2	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677			Mis		uveal melanoma								4	150					0	0	0	0	A	3114962	G	A	3114962	3	1	449	1	0	0	0	0	1	0	0	0	6550	1087	38	1	511	1	GNA11	19	3114962	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	2111416	3114962	56014021	113	87901											
SAFB	6294	broad.mit.edu	37	chr19	5664419	5664419	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttcaggagagaaggttCaaggtcaatgatgggagaac	13	9	13	6	0	3	3	3	1	0	2	3	6	3	4	1	4	1	1	1	4	4	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:5664419C>G	ENST00000292123.5	+	17	2410	c.2303C>G	c.(2302-2304)tCa>tGa	p.S768*	SAFB_ENST00000538656.1_Nonsense_Mutation_p.S610*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.S699*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S768*|SAFB_ENST00000592224.1_Nonsense_Mutation_p.S767*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.S598*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	768	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGAGAAGGTTCAAGGTCAATG	0.458													14	46					0	0	0	0	G	5664419	C	G	5664419	4	3	449	1	0	0	0	0	0	1	0	0	13891	838	29	2	2369	2	SAFB	19	5664419	Nonsense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	2549457	5664419	53464564	114	87902											
HNRNPM	4670	broad.mit.edu	37	chr19	8550638	8550638	+	Silent	SNP	C	C	T																															cgcatgggcctggtcatggaCcgcatgggctccgtggagcg																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:8550638C>T	ENST00000348943.3	+	15	1441	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D	HNRNPM_ENST00000325495.4_Silent_p.D442D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	442	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGTCATGGACCGCATGGGCT	0.711													52	165					0	0	0	0	T	8550638	C	T	8550638	2	4	449	1	0	0	0	0	0	0	0	1	7321	506	18	4		4	HNRNPM	19	8550638	Silent	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	2886219	8550638	50578345	115	87903	1091	2									
HNRNPM	4670	broad.mit.edu	37	chr19	8550642	8550642	+	Missense_Mutation	SNP	A	A	G																															tgggcctggtcatggaccgcAtgggctccgtggagcgcatg																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:8550642A>G	ENST00000348943.3	+	15	1445	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V	HNRNPM_ENST00000325495.4_Missense_Mutation_p.M444V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	444	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CATGGACCGCATGGGCTCCGT	0.706													48	160					0	0	0	0	G	8550642	A	G	8550642	3	3	449	1	0	0	0	0	1	0	0	0	7321	217	8	5	1384	5	HNRNPM	19	8550642	Missense_Mutation	SNP	A	TCGA-MT-A67A-01A-11D-A30E-08	4	8550642	50578341	116	87904	1091	2									
EIF3G	8666	broad.mit.edu	37	chr19	10226486	10226486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgacacggatggtggcGttgtcgtcggctgtgtggga	4	12	19	6	4	0	1	0	1	0	0	2	3	0	3	0	6	0	2	0	6	0	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:10226486G>C	ENST00000253108.4	-	9	756	c.714C>G	c.(712-714)aaC>aaG	p.N238K		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	238						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GGATGGTGGCGTTGTCGTCGG	0.642													26	116					0	0	0	0	C	10226486	G	C	10226486	3	2	449	1	0	0	0	0	1	0	0	0	5055	1136	40	3	260	3	EIF3G	19	10226486	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	1675844	10226486	48902497	117	87905											
DNMT1	1786	broad.mit.edu	37	chr19	10250385	10250385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgcactgatagcccatGcggaccaggcagcggagggt	10	5	16	10	2	0	1	0	1	0	0	0	3	0	3	2	5	4	2	2	5	2	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:10250385G>A	ENST00000340748.4	-	33	4102	c.3867C>T	c.(3865-3867)cgC>cgT	p.R1289R	DNMT1_ENST00000359526.4_Silent_p.R1305R|DNMT1_ENST00000540357.1_Silent_p.R1289R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1289	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GATAGCCCATGCGGACCAGGC	0.642													8	15					0	0	0	0	A	10250385	G	A	10250385	2	1	449	1	0	0	0	0	0	0	0	1	4711	1306	46	4		4	DNMT1	19	10250385	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	23899	10250385	48878598	118	87906											
MAN2B1	4125	broad.mit.edu	37	chr19	12758310	12758310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtccggaatcctctcctaCggcaaactggtgctccaagc	9	8	9	15	3	1	0	0	0	1	0	5	1	4	1	4	3	4	2	4	3	4	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:12758310C>T	ENST00000456935.2	-	22	2807	c.2767G>A	c.(2767-2769)Gta>Ata	p.V923I	MAN2B1_ENST00000221363.4_Missense_Mutation_p.V922I|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R109H	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	923					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCTCTCCTACGGCAAACTGG	0.617													49	138					0	0	0	0	T	12758310	C	T	12758310	3	4	449	1	0	0	0	0	1	0	0	0	9285	536	19	1	280	1	MAN2B1	19	12758310	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	2507925	12758310	46370673	119	87907											
MAST1	22983	broad.mit.edu	37	chr19	12954373	12954373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccggtggtctctggcctcGctcccttcatctggctatgg	2	12	12	15	3	3	0	1	0	2	0	6	0	4	0	3	5	0	2	3	5	1	2	rs62108431	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:12954373G>A	ENST00000251472.4	+	4	318	c.279G>A	c.(277-279)tcG>tcA	p.S93S	MAST1_ENST00000591495.1_Silent_p.S89S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	93					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTCTGGCCTCGCTCCCTTCAT	0.657													21	70					0	0	0	0	A	12954373	G	A	12954373	2	1	449	1	0	0	0	0	0	0	0	1	9393	1074	38	1		1	MAST1	19	12954373	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	196063	12954373	46174610	120	87908											
CYP4F3	4051	broad.mit.edu	37	chr19	15770152	15770152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccggagctggtcctgcGcgcagagggcggactttggc	6	6	18	11	4	0	1	0	0	0	1	1	4	1	3	2	5	3	2	2	5	1	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:15770152G>A	ENST00000221307.7	+	13	1568	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	CYP4F3_ENST00000591058.1_Missense_Mutation_p.R507H|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R507H|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R507H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	507					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGGTCCTGCGCGCAGAGGGC	0.637													8	31					0	0	0	0	A	15770152	G	A	15770152	3	1	449	1	0	0	0	0	1	0	0	0	4222	1087	38	1	1566	1	CYP4F3	19	15770152	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	2815779	15770152	43358831	121	87909											
ZFP36	7538	broad.mit.edu	37	chr19	39898406	39898406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtcgctgagccctgaCgtgcccgtgccatccgacca	5	8	10	18	4	0	2	0	2	0	0	3	3	2	2	6	0	3	1	6	0	0	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:39898406C>A	ENST00000597629.1	+	2	140	c.66C>A	c.(64-66)gaC>gaA	p.D22E	ZFP36_ENST00000248673.3_Missense_Mutation_p.D16E|ZFP36_ENST00000594045.1_3'UTR			P26651	TTP_HUMAN	ZFP36 ring finger protein	16					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAGCCCTGACGTGCCCGTGC	0.672													5	278					2.0095e-06	2.12469e-06	1	0	A	39898406	C	A	39898406	3	1	449	1	0	0	0	0	1	0	0	0	17740	535	19	3	54	3	ZFP36	19	39898406	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	24128254	39898406	19230577	122	87910											
PRX	57716	broad.mit.edu	37	chr19	40902557	40902557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcacctctggaagccGcacctctggcacagccacct	8	6	9	18	1	2	0	0	0	2	0	2	1	2	1	5	2	4	4	5	2	1	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:40902557G>A	ENST00000324001.7	-	7	1972	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	568	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGAAGCCGCACCTCTGGC	0.557													5	320					0	0	0	0	A	40902557	G	A	40902557	3	1	449	1	0	0	0	0	1	0	0	0	12721	1086	38	1	2687	1	PRX	19	40902557	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	1004151	40902557	18226426	123	87911											
SPTBN4	57731	broad.mit.edu	37	chr19	40996096	40996096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgggttcgcatgacatcGtggatgggaatcaccggctg	8	9	15	9	4	1	1	1	1	0	0	3	3	1	3	1	4	0	3	1	4	1	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:40996096G>A	ENST00000352632.3	+	4	522	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	SPTBN4_ENST00000598249.1_Missense_Mutation_p.V146M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V146M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V146M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.V146M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	146	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCATGACATCGTGGATGGGAA	0.632													9	60					0	0	0	0	A	40996096	G	A	40996096	3	1	449	1	0	0	0	0	1	0	0	0	15211	1145	40	1	446	1	SPTBN4	19	40996096	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	93539	40996096	18132887	124	87912											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396787	42396787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggacttccgttccaagCggctcatgggcatgacgccc	7	8	13	13	3	1	1	1	1	0	0	3	3	3	3	3	4	1	3	3	4	1	2			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:42396787C>T	ENST00000599846.1	+	7	606	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R143W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R161W|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R128W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R176W			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	161	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCGTTCCAAGCGGCTCATGGG	0.687													4	62					0	0	0	0	T	42396787	C	T	42396787	3	4	449	1	0	0	0	0	1	0	0	0	895	759	27	1	552	1	ARHGEF1	19	42396787	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	1400691	42396787	16732196	125	87913											
LIPE	3991	broad.mit.edu	37	chr19	42930829	42930829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggtttagcctgggccGcaggtgttgattcagcttct	5	13	12	11	1	2	1	1	1	1	0	3	1	3	1	3	3	2	4	3	3	1	5	rs138508614		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:42930829G>A	ENST00000244289.4	-	1	749	c.473C>T	c.(472-474)gCg>gTg	p.A158V	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	158					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGCCTGGGCCGCAGGTGTTGA	0.562													19	80					0	0	0	0	A	42930829	G	A	42930829	3	1	449	1	0	0	0	0	1	0	0	0	8876	1087	38	1	2797	1	LIPE	19	42930829	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	534042	42930829	16198154	126	87914											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56735007	56735007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacactcacctgcctcCtggacaatgcagggaccctg	9	7	8	17	0	2	0	2	0	0	0	3	2	3	2	4	2	2	1	4	2	1	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:56735007C>T	ENST00000587340.1	-	5	1276	c.581G>A	c.(580-582)aGg>aAg	p.R194K	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R48K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R194K|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R194K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R77K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R194M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACCTGCCTCCTGGACAATGC	0.612													8	29					0	0	0	0	T	56735007	C	T	56735007	3	4	449	1	0	0	0	0	1	0	0	0	18329	681	24	4	921	4	ZSCAN5A	19	56735007	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	13804178	56735007	2393976	127	87915											
ZNF773	374928	broad.mit.edu	37	chr19	58024429	58024429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcgcccgaacagggacGtgagtgaagaaggtctgctg	10	6	17	8	3	1	3	0	2	1	1	1	5	1	4	1	3	2	1	1	3	3	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:58024429G>A	ENST00000599847.1	+	5	489	c.347G>A	c.(346-348)cGt>cAt	p.R116H	ZNF773_ENST00000593916.1_Missense_Mutation_p.R100H			Q6PK81	ZN773_HUMAN	zinc finger protein 773	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAACAGggacgtgagtgaaga	0.493													5	12					0	0	0	0	A	58024429	G	A	58024429	3	1	449	1	0	0	0	0	1	0	0	0	18239	1160	40	1		1	ZNF773	19	58024429	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	1289422	58024429	1104554	128	87916											
PHF20	51230	broad.mit.edu	37	chr20	34505570	34505570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggtccaggaggaaaatGacttcatgattcaggtaggc	12	9	14	6	0	2	3	2	3	0	0	3	5	3	5	1	5	0	1	1	5	3	3			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:34505570G>A	ENST00000374012.3	+	13	2119	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGAGGAAAATGACTTCATGAT	0.507													11	32					0	0	0	0	A	34505570	G	A	34505570	3	1	449	1	0	0	0	0	1	0	0	0	11903	1290	45	2	2036	2	PHF20	20	34505570	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08		34505570	28519950	129	87917											
CHRNA4	1137	broad.mit.edu	37	chr20	61982102	61982102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagcactcgtacttccTggtgttgtaggtgcccacgg	6	10	13	12	2	0	0	0	0	0	0	2	0	1	0	2	4	3	5	2	4	2	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:61982102T>C	ENST00000370263.4	-	5	882	c.661A>G	c.(661-663)Agg>Ggg	p.R221G	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)	221					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			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)	TCGTACTTCCTGGTGTTGTAG	0.592													29	91					0	0	0	0	C	61982102	T	C	61982102	3	2	449	1	0	0	0	0	1	0	0	0	3414	1579	55	5	1230	5	CHRNA4	20	61982102	Missense_Mutation	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	27476532	61982102	1043418	130	87918											
C20orf201	198437	broad.mit.edu	37	chr20	62714907	62714908	+	Frame_Shift_Ins	INS	-	-	C																															gggcagggcccctcccctttINSccccgcccctaccggggctt																										TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:62714907_62714908insC	ENST00000308906.2	-	2	692_693	c.553_554insG	c.(553-555)aagfs	p.K185fs	OPRL1_ENST00000336866.2_Intron|OPRL1_ENST00000355631.4_Intron|C20orf201_ENST00000302096.4_Intron	NM_001007125.1	NP_001007126.1	Q8TD35	CT201_HUMAN	chromosome 20 open reading frame 201	29																	CCCTCCCCTTTCCCCGCCCCTA	0.728													4	5	---	---	---	---					C	62714908	-	C	62714907	7	5	449	1	0	1	1	0	0	0	0	0	2124	1783	62	0	172	0	C20orf201	20	62714907	Frame_Shift_Ins	INS	-	TCGA-MT-A67A-01A-11D-A30E-08	732805	62714907	310613	131	87919											
IL10RB	3588	broad.mit.edu	37	chr21	34668542	34668542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttctcctttccattgtcGgatgagaatgatgtttttga	7	20	8	6	1	1	3	0	3	1	1	4	5	2	4	2	1	0	1	2	1	1	6			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:34668542G>A	ENST00000290200.2	+	7	966	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTCCATTGTCGGATGAGAATG	0.463													49	131					0	0	0	0	A	34668542	G	A	34668542	2	1	449	1	0	0	0	0	0	0	0	1	7674	1103	39	1		1	IL10RB	21	34668542	Silent	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08		34668542	13461353	132	87920											
PCNT	5116	broad.mit.edu	37	chr21	47817943	47817943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggagcaggcagccgagCgggagcacgagcgcgaggag	10	0	19	12	5	0	0	0	0	0	0	0	6	0	3	2	4	5	3	2	4	0	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:47817943C>T	ENST00000359568.5	+	23	4569	c.4462C>T	c.(4462-4464)Cgg>Tgg	p.R1488W	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1488					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCAGCCGAGCGGGAGCACGA	0.706													3	7					0	0	0	0	T	47817943	C	T	47817943	3	4	449	1	0	0	0	0	1	0	0	0	11661	759	27	1	4552	1	PCNT	21	47817943	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	13149401	47817943	311952	133	87921											
GK	2710	broad.mit.edu	37	chrX	30714164	30714164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttactctgcctagagtttGacaggaggagtcaatggagg	10	12	13	6	0	2	2	1	1	1	1	2	5	2	5	1	4	2	1	1	4	3	4			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:30714164G>T	ENST00000378943.3	+	7	737	c.558G>T	c.(556-558)ttG>ttT	p.L186F	GK_ENST00000378946.3_Missense_Mutation_p.L186F|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.L186F	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	186					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CCTAGAGTTTGACAGGAGGAG	0.353													8	25					0.00307968	0.00311724	1	0	T	30714164	G	T	30714164	3	4	449	1	0	0	0	0	1	0	0	0	6471	1281	45	2	584	2	GK	23	30714164	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08		30714164	124556396	134	87922											
BCOR	54880	broad.mit.edu	37	chrX	39934190	39934190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggggttttccagagaCggcagaagcctccactgtct	8	11	12	10	1	1	2	0	0	1	2	3	3	3	2	3	3	1	2	3	3	1	3	rs146403660	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:39934190C>T	ENST00000342274.4	-	4	771	c.409G>A	c.(409-411)Gtc>Atc	p.V137I	BCOR_ENST00000397354.3_Missense_Mutation_p.V137I|BCOR_ENST00000378444.4_Missense_Mutation_p.V137I|BCOR_ENST00000378455.4_Missense_Mutation_p.V137I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	137					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTCCAGAGACGGCAGAAGCC	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	102					0	0	0	0	T	39934190	C	T	39934190	3	4	449	1	0	0	0	0	1	0	0	0	1390	536	19	1	4906	1	BCOR	23	39934190	Missense_Mutation	SNP	C	TCGA-MT-A67A-01A-11D-A30E-08	9220026	39934190	115336370	135	87923											
PCDH19	57526	broad.mit.edu	37	chrX	99663057	99663057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagccgtcgccgcgcGtcttgatctccaggccgaac	6	6	14	15	7	2	1	0	1	2	0	4	3	2	2	4	2	3	0	4	2	1	1			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:99663057G>A	ENST00000373034.4	-	1	2214	c.539C>T	c.(538-540)aCg>aTg	p.T180M	PCDH19_ENST00000420881.2_Missense_Mutation_p.T180M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T180M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	180	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTCGCCGCGCGTCTTGATCTC	0.617													23	69					0	0	0	0	A	99663057	G	A	99663057	3	1	449	1	0	0	0	0	1	0	0	0	11585	1145	40	1	2931	1	PCDH19	23	99663057	Missense_Mutation	SNP	G	TCGA-MT-A67A-01A-11D-A30E-08	59728867	99663057	55607503	136	87924											
MAGEA4	4103	broad.mit.edu	37	chrX	151081003	151081003	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggcgcaggctctgTgaggaggcaaggtgggggca	9	4	21	7	1	1	1	0	1	1	0	1	3	1	3	0	8	1	5	0	8	2	0			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:151081003T>C	ENST00000424126.1	-	0	249																											GCAGGCTCTGTGAGGAGGCAA	0.622													4	12					0	0	0	0	C	151081003	T	C	151081003	1	2	449	0	1	0	0	0	0	0	0	0	9235	1711	59	5		5	MAGEA4	23	151081003	RNA	SNP	T	TCGA-MT-A67A-01A-11D-A30E-08	51417946	151081003	4189557	137	87925											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855611	12855611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaaccccttggagaaCttggaattaacttatggcta	12	11	8	10	0	0	2	0	0	0	2	1	4	1	3	3	3	3	1	3	3	6	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:12855611C>A	ENST00000332296.7	+	4	994	c.891C>A	c.(889-891)aaC>aaA	p.N297K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.N52K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	297										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGGAGAACTTGGAATTAA	0.468													4	112					5.4927e-09	6.08252e-09	1	0	A	12855611	C	A	12855611	3	1	450	1	0	0	0	0	1	0	0	0	12501	564	20	4	901	4	PRAMEF1	1	12855611	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		12855611	236395010	1	87926											
NECAP2	55707	broad.mit.edu	37	chr1	16785408	16785408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacggtttttcctcatGtgacttctgggaaggcgctc	6	13	12	10	2	2	2	1	2	1	0	4	3	3	3	1	3	1	3	1	3	1	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:16785408G>A	ENST00000443980.2	+	7	765	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000504551.2_3'UTR|NECAP2_ENST00000337132.5_3'UTR|NECAP2_ENST00000457722.2_3'UTR	NM_001145277.1	NP_001138749.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	249					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTCCTCATGTGACTTCTGG	0.577													9	39					0	0	0	0	A	16785408	G	A	16785408	3	1	450	1	0	0	0	0	1	0	0	0	10378	1377	48	4	845	4	NECAP2	1	16785408	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	3929797	16785408	232465213	2	87927											
UBR4	23352	broad.mit.edu	37	chr1	19468218	19468218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccaccattcgggatccCtgatgactgcattttctcat	8	13	8	12	1	1	3	1	3	1	0	4	4	2	4	3	1	1	1	3	1	0	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:19468218C>T	ENST00000375267.2	-	56	8236	c.8233G>A	c.(8233-8235)Ggg>Agg	p.G2745R	UBR4_ENST00000375254.3_Missense_Mutation_p.G2745R|UBR4_ENST00000375217.2_Missense_Mutation_p.G2773R|UBR4_ENST00000375226.2_Missense_Mutation_p.G2756R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2745					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			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)		TTCGGGATCCCTGATGACTGC	0.507													14	108					0	0	0	0	T	19468218	C	T	19468218	3	4	450	1	0	0	0	0	1	0	0	0	17000	681	24	4	7522	4	UBR4	1	19468218	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	2682810	19468218	229782403	3	87928											
TXLNA	200081	broad.mit.edu	37	chr1	32647005	32647005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaacccgaagatgcagAgaagtcccggacctatgtgg	11	6	14	10	2	0	3	0	1	0	2	1	6	1	4	3	3	2	2	3	3	4	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:32647005A>G	ENST00000373609.1	+	2	613	c.332A>G	c.(331-333)gAg>gGg	p.E111G	TXLNA_ENST00000373610.3_Missense_Mutation_p.E111G			P40222	TXLNA_HUMAN	taxilin alpha	111					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAAGATGCAGAGAAGTCCCGG	0.567													7	28					0	0	0	0	G	32647005	A	G	32647005	3	3	450	1	0	0	0	0	1	0	0	0	16883	304	11	5	338	5	TXLNA	1	32647005	Missense_Mutation	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08	13178787	32647005	216603616	4	87929											
PHC2	1912	broad.mit.edu	37	chr1	33832911	33832911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctggggtaggcagaGgctggctaccgcccggcgtg	4	8	18	11	3	1	1	0	0	1	1	1	1	1	1	2	6	2	5	2	6	2	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:33832911G>A	ENST00000257118.5	-	6	835	c.782C>T	c.(781-783)cCt>cTt	p.P261L	PHC2_ENST00000419414.2_Missense_Mutation_p.P261L|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.P232L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	261					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGTAGGCAGAGGCTGGCTACC	0.637											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	134					0	0	0	0	A	33832911	G	A	33832911	3	1	450	1	0	0	0	0	1	0	0	0	11889	1000	35	4	1830	4	PHC2	1	33832911	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	1185906	33832911	215417710	5	87930											
EPHA10	284656	broad.mit.edu	37	chr1	38227628	38227628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcagttccacgaagatgCgctgcccgcggccacggctt	7	7	12	15	5	0	1	0	0	0	1	1	2	1	1	3	2	3	4	3	2	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:38227628C>T	ENST00000373048.4	-	3	298	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGAAGATGCGCTGCCCGCG	0.607													4	165					0	0	0	0	T	38227628	C	T	38227628	3	4	450	1	0	0	0	0	1	0	0	0	5204	768	27	1	2825	1	EPHA10	1	38227628	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	4394717	38227628	211022993	6	87931											
MTF1	4520	broad.mit.edu	37	chr1	38287981	38287981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccatggctggcaggggctCagtagtactttgtggtgggg	6	10	18	7	0	1	0	1	0	0	0	1	1	1	0	1	7	1	5	1	7	2	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:38287981C>T	ENST00000373036.4	-	9	1719	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	527						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCAGGGGCTCAGTAGTACTT	0.557													12	58					0	0	0	0	T	38287981	C	T	38287981	3	4	450	1	0	0	0	0	1	0	0	0	9992	835	29	2	694	2	MTF1	1	38287981	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	60353	38287981	210962640	7	87932											
RPE65	6121	broad.mit.edu	37	chr1	68896860	68896860	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacattcagcttacagagCtgtttgtgagaaagaaaaat	15	12	9	5	0	1	4	1	2	0	3	1	5	1	4	0	0	3	3	0	0	4	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:68896860C>A	ENST00000262340.5	-	13	1392		c.e13-1			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCTTACAGAGCTGTTTGTGAG	0.373													4	35					0.00909568	0.00915114	1	0	A	68896860	C	A	68896860	5	1	450	1	0	0	0	0	0	0	1	0	13630	811	28	4	271	4	RPE65	1	68896860	Splice_Site	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	30608879	68896860	180353761	8	87933											
PIGK	10026	broad.mit.edu	37	chr1	77620301	77620301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagacttttgggacatacCtgaaactgaaaaaatatata	18	10	6	7	0	0	3	0	2	0	1	0	4	0	4	1	1	2	0	1	1	8	6			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:77620301C>A	ENST00000370812.3	-	9	842	c.819G>T	c.(817-819)caG>caT	p.Q273H	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.Q179H|PIGK_ENST00000359130.1_Missense_Mutation_p.Q273H|PIGK_ENST00000370813.5_Missense_Mutation_p.Q197H	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	273					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGGGACATACCTGAAACTGaa	0.328													4	16					0.00024832	0.000262646	1	0	A	77620301	C	A	77620301	3	1	450	1	0	0	0	0	1	0	0	0	11962	680	24	4	380	4	PIGK	1	77620301	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	8723441	77620301	171630320	9	87934											
CDC14A	8556	broad.mit.edu	37	chr1	100818542	100818542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggggaactaatcggggCttgtgagttcatgaaaggtg	10	10	16	5	1	2	2	2	2	0	0	3	3	2	3	0	5	1	2	0	5	3	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:100818542C>T	ENST00000370125.2	+	1	520	c.32C>T	c.(31-33)gCt>gTt	p.A11V	CDC14A_ENST00000361544.6_Missense_Mutation_p.A11V|CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000544534.1_Missense_Mutation_p.A11V|CDC14A_ENST00000370124.3_Missense_Mutation_p.A11V|CDC14A_ENST00000336454.3_Missense_Mutation_p.A11V			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	11	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTAATCGGGGCTTGTGAGTTC	0.622													5	52					0	0	0	0	T	100818542	C	T	100818542	3	4	450	1	0	0	0	0	1	0	0	0	3085	797	28	4	34	4	CDC14A	1	100818542	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	23198241	100818542	148432079	10	87935											
ANKRD35	148741	broad.mit.edu	37	chr1	145561563	145561563	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccagtatgaagtccaTggaaggtcccaaccagaaga	16	6	10	9	0	0	4	0	1	0	3	3	5	3	5	4	2	1	1	4	2	6	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:145561563T>C	ENST00000355594.4	+	10	1338	c.1251T>C	c.(1249-1251)caT>caC	p.H417H		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	417										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAAGTCCATGGAAGGTCCC	0.542													11	85					0	0	0	0	C	145561563	T	C	145561563	2	2	450	1	0	0	0	0	0	0	0	1	663	1461	51	5		5	ANKRD35	1	145561563	Silent	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	44743021	145561563	103689058	11	87936											
PI4KB	5298	broad.mit.edu	37	chr1	151278751	151278751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctacggacctcgtactcCgaattcggttctcggggatc	6	13	10	12	5	2	0	0	0	2	0	7	3	3	2	2	4	2	2	2	4	3	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:151278751C>T	ENST00000368875.2	-	6	1887	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	PI4KB_ENST00000368873.1_Missense_Mutation_p.R424Q|PI4KB_ENST00000368874.4_Missense_Mutation_p.R409Q|PI4KB_ENST00000368872.1_Missense_Mutation_p.R409Q|PI4KB_ENST00000529142.1_Missense_Mutation_p.R92Q|PI4KB_ENST00000271657.5_Missense_Mutation_p.R436Q	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	424					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			CCTCGTACTCCGAATTCGGTT	0.527													13	50					0	0	0	0	T	151278751	C	T	151278751	3	4	450	1	0	0	0	0	1	0	0	0	11946	652	23	1	1211	1	PI4KB	1	151278751	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	5717188	151278751	97971870	12	87937											
NPR1	4881	broad.mit.edu	37	chr1	153655867	153655867	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaggttgtactgaactacAatgggacttcccaagagctg	11	11	10	9	0	0	2	0	1	0	1	1	3	1	3	1	2	4	3	1	2	6	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:153655867A>C	ENST00000368680.3	+	6	1751	c.1279A>C	c.(1279-1281)Aat>Cat	p.N427H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	427					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACTGAACTACAATGGGACTTC	0.597													9	42					0	0	0	0	C	153655867	A	C	153655867	3	2	450	1	0	0	0	0	1	0	0	0	10665	130	5	5	1301	5	NPR1	1	153655867	Missense_Mutation	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08	2377116	153655867	95594754	13	87938											
USP21	27005	broad.mit.edu	37	chr1	161130737	161130737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacagtggctttgcctctcCcatctcggaccaacttagcc	8	10	7	16	1	2	0	0	0	2	0	4	1	2	1	4	2	4	1	4	2	3	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:161130737C>T	ENST00000368002.3	+	3	684	c.307C>T	c.(307-309)Cca>Tca	p.P103S	USP21_ENST00000289865.8_Missense_Mutation_p.P103S|USP21_ENST00000368001.1_Missense_Mutation_p.P103S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	103					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTGCCTCTCCCATCTCGGAC	0.642													12	65					0	0	0	0	T	161130737	C	T	161130737	3	4	450	1	0	0	0	0	1	0	0	0	17149	623	22	4	309	4	USP21	1	161130737	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	7474870	161130737	88119884	14	87939											
RALGPS2	55103	broad.mit.edu	37	chr1	178854232	178854232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaagtaggagcgtctcCacagagtggacgaaaaagtg	13	7	13	8	2	1	2	0	1	1	1	3	5	2	4	2	2	1	1	2	2	4	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:178854232C>T	ENST00000367635.3	+	12	1264	c.926C>T	c.(925-927)cCa>cTa	p.P309L	RALGPS2_ENST00000324778.4_Missense_Mutation_p.P274L|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P309L|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	309					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGAGCGTCTCCACAGAGTGGA	0.433													8	51					0	0	0	0	T	178854232	C	T	178854232	3	4	450	1	0	0	0	0	1	0	0	0	13100	594	21	4	968	4	RALGPS2	1	178854232	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	17723495	178854232	70396389	15	87940											
TPR	7175	broad.mit.edu	37	chr1	186292894	186292894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgtggtgggcgtctcGgtgactgaggtgctcgaggg	4	10	21	6	3	1	2	0	2	1	0	3	4	1	3	0	6	1	1	0	6	0	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:186292894G>A	ENST00000367478.3	-	43	6517	c.6221C>T	c.(6220-6222)cCg>cTg	p.P2074L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2074					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGGGCGTCTCGGTGACTGAGG	0.502			T	NTRK1	papillary thyroid								4	111					0	0	0	0	A	186292894	G	A	186292894	3	1	450	1	0	0	0	0	1	0	0	0	16511	1116	39	1	906	1	TPR	1	186292894	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	7438662	186292894	62957727	16	87941											
PPFIA4	8497	broad.mit.edu	37	chr1	203028956	203028956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttgcccagtgggatggtCctactgtggtctcctggttg	3	14	13	11	0	1	0	0	0	1	0	3	1	2	1	4	4	2	1	4	4	1	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:203028956C>T	ENST00000367240.2	+	20	3024	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	PPFIA4_ENST00000295706.4_Missense_Mutation_p.P348S|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P561S|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P348S|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P832S|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P348S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	348					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GTGGGATGGTCCTACTGTGGT	0.552													7	11					0	0	0	0	T	203028956	C	T	203028956	3	4	450	1	0	0	0	0	1	0	0	0	12383	855	30	2	1072	2	PPFIA4	1	203028956	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	16736062	203028956	46221665	17	87942											
CHML	1122	broad.mit.edu	37	chr1	241799085	241799085	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattttaggaagtaacagcGtctggtgacaactgctgatg	11	11	11	8	1	1	2	0	2	1	0	1	3	1	3	1	2	4	2	1	2	4	3	rs140161557	by1000genomes	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:241799085G>A	ENST00000366553.1	-	0	147				OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)						intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAGTAACAGCGTCTGGTGACA	0.438													7	48					0	0	0	0	A	241799085	G	A	241799085	1	1	450	1	0	0	0	0	0	0	0	0	3380	1160	40	1		1	CHML	1	241799085	Translation_Start_Site	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	38770129	241799085	7451536	18	87943											
OR2T6	254879	broad.mit.edu	37	chr1	248551037	248551037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catggccatgatagctaatgGggtcatgatcttcctgatta	10	13	10	8	0	2	3	1	3	1	0	3	3	3	3	2	3	1	1	2	3	3	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:248551037G>A	ENST00000355728.2	+	1	128	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATAGCTAATGGGGTCATGATC	0.473													7	95					0	0	0	0	A	248551037	G	A	248551037	3	1	450	1	0	0	0	0	1	0	0	0	11100	1232	43	4	130	4	OR2T6	1	248551037	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	6751952	248551037	699584	19	87944											
ASXL2	55252	broad.mit.edu	37	chr2	25966250	25966250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctcccatccccctttcctCttttgcagtcagtggaaccg	5	12	7	17	2	2	0	1	0	1	0	5	1	5	1	5	1	2	2	5	1	1	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:25966250C>T	ENST00000435504.4	-	13	3249	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.E958K|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	986					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTTTCCTCTTTTGCAGTC	0.478													11	109					0	0	0	0	T	25966250	C	T	25966250	3	4	450	1	0	0	0	0	1	0	0	0	1071	922	32	2	1355	2	ASXL2	2	25966250	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		25966250	217233123	20	87945											
C2orf16	84226	broad.mit.edu	37	chr2	27804461	27804461	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagacatcgcagtccctcCcagaggagccatcgcggtcc	10	5	11	15	3	0	3	0	0	0	3	5	4	3	4	4	2	1	1	4	2	1	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:27804461C>T	ENST00000408964.2	+	1	5073	c.5022C>T	c.(5020-5022)tcC>tcT	p.S1674S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1674	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCCCAGAGGAGCC	0.572													14	264					0	0	0	0	T	27804461	C	T	27804461	2	4	450	1	0	0	0	0	0	0	0	1	2177	610	22	4		4	C2orf16	2	27804461	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	1838211	27804461	215394912	21	87946											
C2orf16	84226	broad.mit.edu	37	chr2	27804504	27804504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagagaagccattgcagtCcctctgagagaagacatcgc	13	6	11	11	1	1	5	0	1	1	4	3	7	2	5	2	0	2	1	2	0	2	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:27804504C>T	ENST00000408964.2	+	1	5116	c.5065C>T	c.(5065-5067)Ccc>Tcc	p.P1689S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1689	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCATTGCAGTCCCTCTGAGAG	0.577													6	246					0	0	0	0	T	27804504	C	T	27804504	3	4	450	1	0	0	0	0	1	0	0	0	2177	855	30	2	5067	2	C2orf16	2	27804504	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	43	27804504	215394869	22	87947											
SPTBN1	6711	broad.mit.edu	37	chr2	54858010	54858010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtggagccagttcagagaActggttgacaggaagaagga	14	6	16	5	0	1	3	1	1	0	2	1	7	1	6	1	5	2	2	1	5	3	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:54858010A>G	ENST00000333896.5	+	15	3172	c.2787A>G	c.(2785-2787)gaA>gaG	p.E929E	SPTBN1_ENST00000356805.4_Silent_p.E942E	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	942					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGTTCAGAGAACTGGTTGACA	0.517													5	19					0	0	0	0	G	54858010	A	G	54858010	2	3	450	1	0	0	0	0	0	0	0	1	15209	40	2	5		5	SPTBN1	2	54858010	Silent	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08	27053506	54858010	188341363	23	87948											
CCT4	10575	broad.mit.edu	37	chr2	62104184	62104184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aactcacagtcatcaattgtCccactaaggataaaagaaaa	19	8	5	9	0	3	1	3	0	0	1	4	2	4	2	1	1	1	0	1	1	7	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:62104184C>T	ENST00000394440.3	-	7	944	c.648G>A	c.(646-648)ggG>ggA	p.G216G	CCT4_ENST00000544079.1_Silent_p.G186G|CCT4_ENST00000538252.1_Silent_p.G160G|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Silent_p.G66G	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	216					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CATCAATTGTCCCACTAAGGA	0.398													9	48					0	0	0	0	T	62104184	C	T	62104184	2	4	450	1	0	0	0	0	0	0	0	1	2984	842	30	2		2	CCT4	2	62104184	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	7246174	62104184	181095189	24	87949											
SPRED2	200734	broad.mit.edu	37	chr2	65541047	65541047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatcacgctgcccccgcggCctttggggtcctcgcctagg	3	9	13	16	4	1	1	1	1	0	0	3	1	2	1	5	4	1	1	5	4	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:65541047C>T	ENST00000356388.4	-	6	1034	c.845G>A	c.(844-846)gGc>gAc	p.G282D	SPRED2_ENST00000443619.2_Missense_Mutation_p.G279D	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	282					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GCCCCCGCGGCCTTTGGGGTC	0.662													26	88					0	0	0	0	T	65541047	C	T	65541047	3	4	450	1	0	0	0	0	1	0	0	0	15183	739	26	4	415	4	SPRED2	2	65541047	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	3436863	65541047	177658326	25	87950											
RPIA	22934	broad.mit.edu	37	chr2	88991322	88991322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggaacagctgggacCtcccgggttcccacgtgcgg	7	5	17	12	3	0	0	0	0	0	0	2	4	2	3	3	5	3	2	3	5	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:88991322C>T	ENST00000283646.4	+	1	161	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	36					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CAGCTGGGACCTCCCGGGTTC	0.746													7	11					0	0	0	0	T	88991322	C	T	88991322	3	4	450	1	0	0	0	0	1	0	0	0	13638	681	24	4	108	4	RPIA	2	88991322	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	23450275	88991322	154208051	26	87951											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192141	125192141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagtactctcaaagatGtgatctccctgaagttcaag	12	12	9	8	0	3	5	2	4	2	1	5	5	3	5	1	0	1	2	1	0	4	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:125192141G>A	ENST00000431078.1	+	5	974	c.610G>A	c.(610-612)Gtg>Atg	p.V204M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	204	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCAAAGATGTGATCTCCCT	0.493													8	67					0	0	0	0	A	125192141	G	A	125192141	3	1	450	1	0	0	0	0	1	0	0	0	3680	1377	48	4	628	4	CNTNAP5	2	125192141	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	36200819	125192141	118007232	27	87952											
LRP1B	53353	broad.mit.edu	37	chr2	141272298	141272298	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccaatgcttagaaatacaTttttgtgcggaacaagcaaa	16	11	7	7	1	0	1	0	0	0	1	1	2	1	2	1	1	5	2	1	1	7	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:141272298T>C	ENST00000389484.3	-	51	9164	c.8193A>G	c.(8191-8193)aaA>aaG	p.K2731K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2731	LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAAATACATTTTTGTGCGG	0.378										TSP Lung(27;0.18)			14	61					0	0	0	0	C	141272298	T	C	141272298	2	2	450	1	0	0	0	0	0	0	0	1	9019	1490	52	5		5	LRP1B	2	141272298	Silent	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	16080157	141272298	101927075	28	87953											
KCNH7	90134	broad.mit.edu	37	chr2	163695001	163695001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccagaaatgtattttgtgGtgccacatgccccctgcgca	8	10	9	14	1	0	1	0	0	0	1	0	1	0	1	5	1	3	2	5	1	2	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:163695001G>T	ENST00000332142.5	-	1	127	c.28C>A	c.(28-30)Cca>Aca	p.P10T	KCNH7_ENST00000328032.4_Missense_Mutation_p.P10T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	10					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTATTTTGTGGTGCCACATGC	0.562													9	65					4.84862e-15	5.55571e-15	1	0	T	163695001	G	T	163695001	3	4	450	1	0	0	0	0	1	0	0	0	8090	1261	44	4	3692	4	KCNH7	2	163695001	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	22422703	163695001	79504372	29	87954											
ITGAV	3685	broad.mit.edu	37	chr2	187455132	187455132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcttcttctctcgggaCtcctgctacctctgtgccgc	2	13	8	18	3	3	0	0	0	3	0	7	1	5	1	4	1	3	2	4	1	1	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:187455132C>T	ENST00000261023.3	+	1	341	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	ITGAV_ENST00000374907.3_Missense_Mutation_p.L23F	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	23					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TCTCTCGGGACTCCTGCTACC	0.672													5	46					0	0	0	0	T	187455132	C	T	187455132	3	4	450	1	0	0	0	0	1	0	0	0	7941	565	20	4	69	4	ITGAV	2	187455132	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	23760131	187455132	55744241	30	87955											
CASP8	841	broad.mit.edu	37	chr2	202149674	202149674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggactgcttcatctgctGtatcctctcccatggagaca	8	12	8	13	0	3	1	1	0	2	1	5	3	4	2	2	2	2	3	2	2	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:202149674G>A	ENST00000358485.4	+	8	1311	c.1115G>A	c.(1114-1116)tGt>tAt	p.C372Y	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.C229Y|CASP8_ENST00000432109.2_Missense_Mutation_p.C313Y|CASP8_ENST00000323492.7_Missense_Mutation_p.C298Y|CASP8_ENST00000264275.5_Missense_Mutation_p.C330Y	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	313					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTCATCTGCTGTATCCTCTCC	0.483										HNSCC(4;0.00038)			36	119					0	0	0	0	A	202149674	G	A	202149674	3	1	450	1	0	0	0	0	1	0	0	0	2702	1377	48	4	1245	4	CASP8	2	202149674	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	14694542	202149674	41049699	31	87956											
ABCA12	26154	broad.mit.edu	37	chr2	215840595	215840595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggaatttctcagtgtGccaaggcccatggcagtggt	7	12	13	9	0	1	0	1	0	1	0	2	1	1	1	2	4	2	2	2	4	2	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:215840595G>T	ENST00000272895.7	-	34	5514	c.5295C>A	c.(5293-5295)ggC>ggA	p.G1765G	ABCA12_ENST00000389661.4_Silent_p.G1447G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1765					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTCAGTGTGCCAAGGCCCA	0.488													21	101					2.4624e-09	2.74524e-09	1	0	T	215840595	G	T	215840595	2	4	450	1	0	0	0	0	0	0	0	1	30	1306	46	4		4	ABCA12	2	215840595	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	13690921	215840595	27358778	32	87957											
DOCK10	55619	broad.mit.edu	37	chr2	225740797	225740797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcctcctcccttggaGgggcccctcaggactgattt	4	12	11	14	0	1	1	1	1	0	0	4	3	4	3	5	4	1	1	5	4	0	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:225740797G>A	ENST00000409592.3	-	8	984	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	DOCK10_ENST00000258390.7_Missense_Mutation_p.L297F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	297							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCCCTTGGAGGGGCCCCTCA	0.512													5	54					0	0	0	0	A	225740797	G	A	225740797	3	1	450	1	0	0	0	0	1	0	0	0	4721	1000	35	4	5867	4	DOCK10	2	225740797	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	9900202	225740797	17458576	33	87958											
PLCD1	5333	broad.mit.edu	37	chr3	38058144	38058144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtcctcgggcacatcaCgggcgaacttctccagaccc	8	6	11	16	4	2	1	1	0	1	1	5	2	3	1	3	3	2	1	3	3	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:38058144C>T	ENST00000463876.1	-	3	682	c.329G>A	c.(328-330)cGt>cAt	p.R110H	PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000334661.4_Missense_Mutation_p.R89H	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	89	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGGCACATCACGGGCGAACTT	0.612													5	14					0	0	0	0	T	38058144	C	T	38058144	3	4	450	1	0	0	0	0	1	0	0	0	12103	536	19	1	2056	1	PLCD1	3	38058144	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		38058144	159964286	34	87959											
DNAH1	25981	broad.mit.edu	37	chr3	52406960	52406960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcgcaactttatcttcttCatcgatgacctgaacatgcc	9	12	8	12	2	3	2	1	2	2	0	4	3	3	2	2	1	3	1	2	1	3	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:52406960C>T	ENST00000420323.2	+	44	7137	c.6876C>T	c.(6874-6876)ttC>ttT	p.F2292F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2292	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTATCTTCTTCATCGATGACC	0.627													8	76					0	0	0	0	T	52406960	C	T	52406960	2	4	450	1	0	0	0	0	0	0	0	1	4634	825	29	2		2	DNAH1	3	52406960	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	14348816	52406960	145615470	35	87960											
GRK7	131890	broad.mit.edu	37	chr3	141497350	141497350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcttccgtgacttcctagCcacagtgcccacgttccgca	6	10	7	18	3	1	1	0	1	1	0	4	1	4	1	6	0	2	2	6	0	1	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:141497350C>A	ENST00000264952.2	+	1	361	c.224C>A	c.(223-225)gCc>gAc	p.A75D		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	75	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GACTTCCTAGCCACAGTGCCC	0.657													12	51					3.07112e-06	3.29048e-06	1	0	A	141497350	C	A	141497350	3	1	450	1	0	0	0	0	1	0	0	0	6844	739	26	4	226	4	GRK7	3	141497350	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	89090390	141497350	56525080	36	87961											
PLD1	5337	broad.mit.edu	37	chr3	171338283	171338283	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctaagaccacagaatGatatgtaatttatccactga	14	13	7	7	0	1	4	0	2	1	2	2	4	2	4	2	0	0	2	2	0	5	6			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:171338283G>T	ENST00000356327.5	-	23	2577	c.2507C>A	c.(2506-2508)tCa>tAa	p.S836*	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Nonsense_Mutation_p.S874*|PLD1_ENST00000340989.4_Nonsense_Mutation_p.S874*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	874	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCACAGAATGATATGTAATT	0.313													5	57					0.00116845	0.00120496	1	0	T	171338283	G	T	171338283	4	4	450	1	0	0	0	0	0	1	0	0	12117	1294	45	2	619	2	PLD1	3	171338283	Nonsense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	29840933	171338283	26684147	37	87962											
PLD1	5337	broad.mit.edu	37	chr3	171406534	171406534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgtctgtgagtctgtgctCattgtcgtcccaccttccat	5	14	8	14	2	3	1	1	1	2	0	6	1	5	1	3	0	1	1	3	0	0	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:171406534C>T	ENST00000356327.5	-	14	1541	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	PLD1_ENST00000342215.6_Missense_Mutation_p.E491K|PLD1_ENST00000351298.4_Missense_Mutation_p.E491K|PLD1_ENST00000340989.4_Missense_Mutation_p.E491K	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	491	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGTCTGTGCTCATTGTCGTCC	0.502													8	69					0	0	0	0	T	171406534	C	T	171406534	3	4	450	1	0	0	0	0	1	0	0	0	12117	835	29	2	1809	2	PLD1	3	171406534	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	68251	171406534	26615896	38	87963											
EPHA5	2044	broad.mit.edu	37	chr4	66217121	66217121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacccttgtggtgtaggCtgcctcgggatcatcttcca	5	14	10	12	1	3	0	1	0	2	0	5	1	4	1	3	3	2	2	3	3	2	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:66217121C>A	ENST00000273854.3	-	14	3094	c.2494G>T	c.(2494-2496)Gcc>Tcc	p.A832S	EPHA5_ENST00000432638.2_Missense_Mutation_p.A669S|EPHA5_ENST00000354839.4_Missense_Mutation_p.A810S|EPHA5_ENST00000511294.1_Missense_Mutation_p.A833S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	832	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTGGTGTAGGCTGCCTCGGGA	0.408										TSP Lung(17;0.13)			10	86					3.07112e-06	3.29048e-06	1	0	A	66217121	C	A	66217121	3	1	450	1	0	0	0	0	1	0	0	0	5208	797	28	4	639	4	EPHA5	4	66217121	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		66217121	124937155	39	87964											
C4orf40	401137	broad.mit.edu	37	chr4	71024299	71024299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcctaggggtttcccGtttgtccctccttcaaggtt	3	15	8	15	1	1	0	1	0	0	0	6	0	6	0	5	3	0	3	5	3	2	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:71024299G>A	ENST00000344526.5	+	3	519	c.330G>A	c.(328-330)ccG>ccA	p.P110P	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.P110P	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	110						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGTTTCCCGTTTGTCCCTC	0.532													45	211					0	0	0	0	A	71024299	G	A	71024299	2	1	450	1	0	0	0	0	0	0	0	1	2290	1132	40	1		1	C4orf40	4	71024299	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	4807178	71024299	120129977	40	87965											
ABCG2	9429	broad.mit.edu	37	chr4	89013473	89013473	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaaggccacgtgattcttCcacaagccccagggtgagag	10	6	12	13	1	1	2	0	2	1	1	2	3	2	2	5	2	1	0	5	2	2	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:89013473C>T	ENST00000237612.3	-	16	2426	c.1881G>A	c.(1879-1881)tgG>tgA	p.W627*	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	627	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CGTGATTCTTCCACAAGCCCC	0.363													8	53					0	0	0	0	T	89013473	C	T	89013473	4	4	450	1	0	0	0	0	0	1	0	0	69	856	30	2	90	2	ABCG2	4	89013473	Nonsense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	17989174	89013473	102140803	41	87966											
GRID2	2895	broad.mit.edu	37	chr4	94436372	94436372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaataatcaaggtctcTccaggacctttccaagcaaa	13	9	5	14	0	2	0	1	0	1	0	6	1	5	1	4	2	1	1	4	2	5	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:94436372T>C	ENST00000282020.4	+	13	2261	c.2003T>C	c.(2002-2004)cTc>cCc	p.L668P	GRID2_ENST00000510992.1_Missense_Mutation_p.L573P	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	668					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCAAGGTCTCTCCAGGACCTT	0.408													5	21					0	0	0	0	C	94436372	T	C	94436372	3	2	450	1	0	0	0	0	1	0	0	0	6822	1551	54	5	2053	5	GRID2	4	94436372	Missense_Mutation	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	5422899	94436372	96717904	42	87967											
ARHGEF38	54848	broad.mit.edu	37	chr4	106474093	106474093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaggagccaatctgacagGactgaatacaaccagaaatt	17	6	10	8	0	1	3	0	2	1	1	1	6	1	6	2	3	3	0	2	3	5	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:106474093G>A	ENST00000420470.2	+	1	315	c.171G>A	c.(169-171)agG>agA	p.R57R	ARHGEF38_ENST00000265154.2_Silent_p.R57R	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	57					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AATCTGACAGGACTGAATACA	0.458													8	39					0	0	0	0	A	106474093	G	A	106474093	2	1	450	1	0	0	0	0	0	0	0	1	909	1165	41	2		2	ARHGEF38	4	106474093	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	12037721	106474093	84680183	43	87968											
FAT1	2195	broad.mit.edu	37	chr4	187539163	187539163	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttccatgttaatggcaaaGgattcaatgacttccacact	12	13	7	9	0	1	1	1	1	0	0	3	2	3	2	2	2	0	3	2	2	3	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:187539163G>C	ENST00000441802.2	-	10	8786	c.8577C>G	c.(8575-8577)tcC>tcG	p.S2859S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2859	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAATGGCAAAGGATTCAATGA	0.413										HNSCC(5;0.00058)			20	67					0	0	0	0	C	187539163	G	C	187539163	2	2	450	1	0	0	0	0	0	0	0	1	5734	987	35	4		4	FAT1	4	187539163	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	81065070	187539163	3615113	44	87969											
TAS2R1	50834	broad.mit.edu	37	chr5	9629542	9629542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgccgggtgtgcctcccCagagagaaaatcaagagcaa	13	7	11	10	1	1	3	1	0	0	3	2	4	2	3	4	1	3	1	4	1	4	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:9629542C>T	ENST00000382492.2	-	1	921	c.603G>A	c.(601-603)ctG>ctA	p.L201L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	201					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGTGCCTCCCCAGAGAGAAAA	0.498													4	83					0	0	0	0	T	9629542	C	T	9629542	2	4	450	1	0	0	0	0	0	0	0	1	15656	581	21	4		4	TAS2R1	5	9629542	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		9629542	171285718	45	87970											
DNAH5	1767	broad.mit.edu	37	chr5	13871034	13871034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgttttccatctcactccGgtattttttgttacagtggc	7	18	7	9	1	1	0	1	0	1	0	4	0	3	0	2	2	1	3	2	2	3	7	rs146689446		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:13871034G>A	ENST00000265104.4	-	24	3780	c.3676C>T	c.(3676-3678)Cgg>Tgg	p.R1226W	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1226	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTCACTCCGGTATTTTTTG	0.403									Kartagener syndrome				15	78					0	0	0	0	A	13871034	G	A	13871034	3	1	450	1	0	0	0	0	1	0	0	0	4641	1115	39	1	10422	1	DNAH5	5	13871034	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	4241492	13871034	167044226	46	87971											
TRIM23	373	broad.mit.edu	37	chr5	64906779	64906779	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactaattttctggaataaTctgagatttcctctgtgaag	12	15	7	7	0	3	2	0	2	3	1	4	4	4	3	1	1	1	0	1	1	5	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:64906779T>A	ENST00000231524.9	-	5	1108	c.737A>T	c.(736-738)gAt>gTt	p.D246V	TRIM23_ENST00000381018.3_Missense_Mutation_p.D246V|TRIM23_ENST00000274327.7_Missense_Mutation_p.D246V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	246					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TCTGGAATAATCTGAGATTTC	0.393													7	36					0	0	0	0	A	64906779	T	A	64906779	3	1	450	1	0	0	0	0	1	0	0	0	16592	1435	50	5	1082	5	TRIM23	5	64906779	Missense_Mutation	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	51035745	64906779	116008481	47	87972											
C5orf15	56951	broad.mit.edu	37	chr5	133295400	133295400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtggtccagtcatagtctgGttctccataatcgccattgt	7	14	9	11	2	3	0	1	0	2	0	6	0	4	0	3	2	0	1	3	2	2	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:133295400G>A	ENST00000231512.3	-	2	653	c.451C>T	c.(451-453)Cca>Tca	p.P151S	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	151						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TCATAGTCTGGTTCTCCATAA	0.473													14	40					0	0	0	0	A	133295400	G	A	133295400	3	1	450	1	0	0	0	0	1	0	0	0	2304	1261	44	4	354	4	C5orf15	5	133295400	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	68388621	133295400	47619860	48	87973											
PCDHA4	56144	broad.mit.edu	37	chr5	140187569	140187569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attggtaattaaacttaacgCctcagatttagacgaaggat	15	12	8	6	2	1	2	1	0	0	2	1	4	1	3	1	2	2	1	1	2	6	6			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:140187569C>T	ENST00000530339.1	+	1	797	c.797C>T	c.(796-798)gCc>gTc	p.A266V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A266V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A266V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACTTAACGCCTCAGATTTA	0.358													13	53					0	0	0	0	T	140187569	C	T	140187569	3	4	450	1	0	0	0	0	1	0	0	0	11597	739	26	4	799	4	PCDHA4	5	140187569	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	6892169	140187569	40727691	49	87974											
PCDHB11	56125	broad.mit.edu	37	chr5	140580049	140580049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggtggtggttgtggaCattaatgacaactcccctga	9	11	13	8	0	1	2	1	2	0	0	2	3	2	3	2	4	1	1	2	4	2	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:140580049C>T	ENST00000354757.3	+	1	702	c.702C>T	c.(700-702)gaC>gaT	p.D234D	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		234	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTTGTGGACATTAATGACA	0.507													28	111					0	0	0	0	T	140580049	C	T	140580049	2	4	450	1	0	0	0	0	0	0	0	1	11607	477	17	4		4	PCDHB11	5	140580049	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	392480	140580049	40335211	50	87975											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccggccaccggtggcgtgaAgaaacctcatcgctaccgcc	8	6	11	16	5	1	2	1	1	0	1	3	2	2	2	6	3	2	1	6	3	3	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632													19	75					0	0	0	0	T	26045748	A	T	26045748	3	4	450	1	0	0	0	0	1	0	0	0	7207	72	3	5	112	5	HIST1H3C	6	26045748	Missense_Mutation	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08		26045748	145069319	51	87976											
FKBPL	63943	broad.mit.edu	37	chr6	32096926	32096926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccttgcacgttcttccCtggccagggcttccttctcg	2	13	9	17	2	2	0	0	0	2	0	5	0	4	0	5	2	2	3	5	2	0	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:32096926C>T	ENST00000375156.3	-	2	902	c.632G>A	c.(631-633)aGg>aAg	p.R211K		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	211					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										ACGTTCTTCCCTGGCCAGGGC	0.602													22	95					0	0	0	0	T	32096926	C	T	32096926	3	4	450	1	0	0	0	0	1	0	0	0	5961	681	24	4	421	4	FKBPL	6	32096926	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	6051178	32096926	139018141	52	87977											
DDO	8528	broad.mit.edu	37	chr6	110714266	110714266	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctattttctgcatcCggggacagattccagtcccc	6	13	8	14	1	2	1	0	0	2	1	6	2	5	2	4	2	2	2	4	2	1	4	rs148812598	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:110714266C>A	ENST00000368924.3	-	5	837	c.822G>T	c.(820-822)ccG>ccT	p.P274P	DDO_ENST00000368925.1_Silent_p.P246P|DDO_ENST00000368923.3_Silent_p.P215P	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	246					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TTTCTGCATCCGGGGACAGAT	0.522													32	171					2.80507e-11	3.17012e-11	1	0	A	110714266	C	A	110714266	2	1	450	1	0	0	0	0	0	0	0	1	4366	639	23	3		3	DDO	6	110714266	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	78617340	110714266	60400801	53	87978											
NCOA7	135112	broad.mit.edu	37	chr6	126211861	126211861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagtgggaaaaccaatGagaaaatcctttgccactca	17	8	7	9	0	2	1	2	1	0	1	3	3	3	2	3	1	2	0	3	1	6	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:126211861G>T	ENST00000368357.3	+	11	2353	c.2001G>T	c.(1999-2001)atG>atT	p.M667I	NCOA7_ENST00000392477.2_Missense_Mutation_p.M667I|NCOA7_ENST00000229634.9_Missense_Mutation_p.M552I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	667					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAAAACCAATGAGAAAATCCT	0.473													5	47					0.000602214	0.000624939	1	0	T	126211861	G	T	126211861	3	4	450	1	0	0	0	0	1	0	0	0	10304	1290	45	2	2035	2	NCOA7	6	126211861	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	15497595	126211861	44903206	54	87979											
MAP3K5	4217	broad.mit.edu	37	chr6	136926459	136926459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgcttttccgtagcctCttggtcctttatctattatt	4	20	6	11	1	2	0	0	0	2	0	4	0	4	0	3	1	3	3	3	1	4	9			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:136926459C>G	ENST00000359015.4	-	19	2927	c.2567G>C	c.(2566-2568)aGa>aCa	p.R856T	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R103T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	856	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCCGTAGCCTCTTGGTCCTTT	0.413													22	52					0	0	0	0	G	136926459	C	G	136926459	3	3	450	1	0	0	0	0	1	0	0	0	9322	913	32	2	1605	2	MAP3K5	6	136926459	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	10714598	136926459	34188608	55	87980											
IQCE	23288	broad.mit.edu	37	chr7	2613121	2613121	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagattattgagttaaagaAggtagtatttcggtttgttc	11	16	11	3	2	0	3	0	1	0	2	2	4	0	3	0	2	0	5	0	2	6	8			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:2613121A>G	ENST00000402050.2	+	6	648	c.465_splice	c.e6+1	p.K155_splice	IQCE_ENST00000438376.2_Splice_Site_p.K139_splice|IQCE_ENST00000325979.7_Splice_Site_p.K90_splice|IQCE_ENST00000404984.1_Splice_Site_p.K104_splice	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	155										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAGTTAAAGAAGGTAGTATTT	0.393													8	32					0	0	0	0	G	2613121	A	G	2613121	5	3	450	1	0	0	0	0	0	0	1	0	7859	86	3	5	486	5	IQCE	7	2613121	Splice_Site	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08		2613121	156525542	56	87981											
KCTD7	154881	broad.mit.edu	37	chr7	66103260	66103260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgtgctgaatttcctgcGctcaggggacctcccaccca	8	9	10	14	1	1	2	1	1	0	1	3	3	3	3	4	2	2	2	4	2	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:66103260G>A	ENST00000275532.3	+	3	519	c.335G>A	c.(334-336)cGc>cAc	p.R112H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R112H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	112	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R112H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AATTTCCTGCGCTCAGGGGAC	0.567													12	97					0	0	0	0	A	66103260	G	A	66103260	3	1	450	1	0	0	0	0	1	0	0	0	8167	1087	38	1	345	1	KCTD7	7	66103260	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	63490139	66103260	93035403	57	87982											
RELN	5649	broad.mit.edu	37	chr7	103237105	103237105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccagctgtcttttccCagcctttcagaaaagaagaa	13	10	6	12	0	3	3	2	0	1	3	4	3	4	3	3	0	2	1	3	0	4	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:103237105C>T	ENST00000424685.2	-	25	3496	c.3337G>A	c.(3337-3339)Ggg>Agg	p.G1113R	RELN_ENST00000343529.5_Missense_Mutation_p.G1113R|RELN_ENST00000428762.1_Missense_Mutation_p.G1113R			P78509	RELN_HUMAN	reelin	1113					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTCTTTTCCCAGCCTTTCAG	0.433													10	52					0	0	0	0	T	103237105	C	T	103237105	3	4	450	1	0	0	0	0	1	0	0	0	13302	594	21	4	7209	4	RELN	7	103237105	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	37133845	103237105	55901558	58	87983											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138713609	138713609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtctgaagtttgcattctCctttcacaaaggatttgcac	10	14	8	9	0	3	1	1	1	2	0	4	2	3	2	1	2	2	3	1	2	2	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:138713609C>A	ENST00000275766.1	-	3	610	c.599G>T	c.(598-600)gGa>gTa	p.G200V		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	200										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTGCATTCTCCTTTCACAAA	0.448													9	31					0.000274275	0.000286427	1	0	A	138713609	C	A	138713609	3	1	450	1	0	0	0	0	1	0	0	0	17671	855	30	2	315	2	ZC3HAV1L	7	138713609	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	35476504	138713609	20425054	59	87984											
SSPO	23145	broad.mit.edu	37	chr7	149515760	149515760	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctggggcccatggtcCtcctggtccccctgctccag	2	9	14	16	0	0	0	0	0	0	0	4	0	4	0	6	6	1	2	6	6	0	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:149515760C>T	ENST00000378016.2	+	0	11661							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCATGGTCCTCCTGGTCCC	0.687													4	38					0	0	0	0	T	149515760	C	T	149515760	1	4	450	0	1	0	0	0	0	0	0	0	15279	668	24	4		4	SSPO	7	149515760	RNA	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	10802151	149515760	9622903	60	87985											
ATG9B	285973	broad.mit.edu	37	chr7	150721007	150721007	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggttgctgctcctccccGtggatgggtgagtcttggga	4	11	17	9	1	1	1	0	1	1	0	3	3	3	3	3	5	2	3	3	5	0	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:150721007G>A	ENST00000444312.1	-	0	579				ATG9B_ENST00000605952.1_Silent_p.H168H|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.H168H|ATG9B_ENST00000605938.1_Silent_p.H168H			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCTCCCCGTGGATGGGTG	0.612													3	6					0	0	0	0	A	150721007	G	A	150721007	1	1	450	1	0	0	0	0	0	0	0	0	1107	1136	40	1		1	ATG9B	7	150721007	Translation_Start_Site	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	1205247	150721007	8417656	61	87986											
TACC1	6867	broad.mit.edu	37	chr8	38677367	38677367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgacagaaggcagcatggGggtcaccctcgaggcctccg	9	5	15	12	2	1	2	1	1	0	1	3	4	2	2	3	4	1	2	3	4	1	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr8:38677367G>A	ENST00000379931.3	+	3	984	c.605G>A	c.(604-606)gGg>gAg	p.G202E	TACC1_ENST00000520340.1_Missense_Mutation_p.G166E|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.G7E|TACC1_ENST00000520973.1_Missense_Mutation_p.G7E|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000317827.4_Missense_Mutation_p.G202E|TACC1_ENST00000518415.1_Missense_Mutation_p.G157E|TACC1_ENST00000519416.1_Missense_Mutation_p.G7E|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.G218E			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	202	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GGCAGCATGGGGGTCACCCTC	0.592													4	126					0	0	0	0	A	38677367	G	A	38677367	3	1	450	1	0	0	0	0	1	0	0	0	15592	1232	43	4	615	4	TACC1	8	38677367	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08		38677367	107686655	62	87987											
IKBKB	3551	broad.mit.edu	37	chr8	42171842	42171842	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagattcatatttgcaggcAttcaaaagtgcggcagaaga	15	9	10	7	1	2	3	2	0	0	3	2	3	2	3	0	2	2	3	0	2	5	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr8:42171842A>G	ENST00000520810.1	+	9	881	c.695A>G	c.(694-696)cAt>cGt	p.H232R	IKBKB_ENST00000379708.3_Missense_Mutation_p.H9R|IKBKB_ENST00000416505.2_Missense_Mutation_p.H173R|IKBKB_ENST00000520835.1_Missense_Mutation_p.H230R|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	232	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ATTTGCAGGCATTCAAAAGTG	0.423													18	176					0	0	0	0	G	42171842	A	G	42171842	3	3	450	1	0	0	0	0	1	0	0	0	7664	217	8	5	725	5	IKBKB	8	42171842	Missense_Mutation	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08	3494475	42171842	104192180	63	87988											
TRAPPC9	83696	broad.mit.edu	37	chr8	141321414	141321414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccagggagggcgatgggctCcatggtcccaggacacttgg	7	6	17	11	1	0	0	0	0	0	0	2	3	2	2	3	6	0	1	3	6	0	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr8:141321414C>T	ENST00000389328.4	-	10	1863	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E510K|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.E519K	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	519					cell differentiation	endoplasmic reticulum|Golgi apparatus				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						GCGATGGGCTCCATGGTCCCA	0.537													9	71					0	0	0	0	T	141321414	C	T	141321414	3	4	450	1	0	0	0	0	1	0	0	0	16560	864	30	2	1947	2	TRAPPC9	8	141321414	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	99149572	141321414	5042608	64	87989											
SVEP1	79987	broad.mit.edu	37	chr9	113168593	113168594	+	Frame_Shift_Ins	INS	-	-	T																															cagatctgaactgccttgtaINStgacatatccagacctgcag																										TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:113168593_113168594insT	ENST00000401783.2	-	38	9622_9623	c.9286_9287insA	c.(9286-9288)acafs	p.T3096fs	SVEP1_ENST00000374469.1_Frame_Shift_Ins_p.T3073fs|SVEP1_ENST00000297826.5_Frame_Shift_Ins_p.T1022fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3096	Sushi 28.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGCCTTGTATGACATATCCA	0.485													29	218	---	---	---	---					T	113168594	-	T	113168593	7	5	450	1	0	1	1	0	0	0	0	0	15510	449	16	0	1472	0	SVEP1	9	113168593	Frame_Shift_Ins	INS	-	TCGA-MT-A67D-01A-31D-A30E-08		113168593	28044838	65	87990											
SLC27A4	10999	broad.mit.edu	37	chr9	131107581	131107581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagatacccactggacCttccgccagctggatgagta	10	7	11	13	1	0	2	0	1	0	1	1	4	1	4	4	3	2	3	4	3	2	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:131107581C>T	ENST00000300456.3	+	3	426	c.309C>T	c.(307-309)acC>acT	p.T103T	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	103					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCCACTGGACCTTCCGCCAGC	0.622													9	48					0	0	0	0	T	131107581	C	T	131107581	2	4	450	1	0	0	0	0	0	0	0	1	14616	668	24	4		4	SLC27A4	9	131107581	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	17938988	131107581	10105850	66	87991											
NTNG2	84628	broad.mit.edu	37	chr9	135073814	135073814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccatctttgccggcccCgacctgcgcaacatggacaa	8	8	9	16	4	1	0	0	0	1	0	2	2	1	1	5	2	3	1	5	2	2	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:135073814C>T	ENST00000393229.3	+	3	1451	c.675C>T	c.(673-675)ccC>ccT	p.P225P	NTNG2_ENST00000393228.4_Silent_p.P225P|NTNG2_ENST00000360670.3_Silent_p.P225P|NTNG2_ENST00000372179.3_Silent_p.P225P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	225	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TTGCCGGCCCCGACCTGCGCA	0.662													21	119					0	0	0	0	T	135073814	C	T	135073814	2	4	450	1	0	0	0	0	0	0	0	1	10776	639	23	1		1	NTNG2	9	135073814	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	3966233	135073814	6139617	67	87992											
NOTCH1	4851	broad.mit.edu	37	chr9	139396814	139396814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcagggaaccagagctggCcatgctgccgccggcgcttg	6	6	14	15	3	1	1	1	0	0	1	1	2	1	2	5	3	4	3	5	3	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:139396814C>T	ENST00000277541.6	-	28	5369	c.5294G>A	c.(5293-5295)gGc>gAc	p.G1765D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1765					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAGAGCTGGCCATGCTGCCG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	30					0	0	0	0	T	139396814	C	T	139396814	3	4	450	1	0	0	0	0	1	0	0	0	10617	739	26	4	2401	4	NOTCH1	9	139396814	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	4323000	139396814	1816617	68	87993											
CACNA1B	774	broad.mit.edu	37	chr9	140772598	140772598	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcagaactgcttcaccgtCaaccgctcgctcttcgtctt	8	11	7	15	4	4	1	2	0	2	1	6	1	4	1	2	0	4	4	2	0	3	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:140772598C>G	ENST00000371372.1	+	1	358	c.213C>G	c.(211-213)gtC>gtG	p.V71V	CACNA1B_ENST00000371355.4_Silent_p.V71V|CACNA1B_ENST00000371357.1_Silent_p.V71V|CACNA1B_ENST00000277551.2_Silent_p.V71V|CACNA1B_ENST00000371363.1_Silent_p.V71V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	71					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCTTCACCGTCAACCGCTCGC	0.662													3	22					0	0	0	0	G	140772598	C	G	140772598	2	3	450	1	0	0	0	0	0	0	0	1	2564	813	29	2		2	CACNA1B	9	140772598	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	1375784	140772598	440833	69	87994											
GATA3	2625	broad.mit.edu	37	chr10	8106031	8106031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcacgggacactacctgtGcaacgcctgcgggctctatc	7	8	12	14	3	1	0	0	0	1	0	2	1	1	1	2	3	4	3	2	3	3	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:8106031G>A	ENST00000379328.3	+	4	1422	c.854G>A	c.(853-855)tGc>tAc	p.C285Y	GATA3_ENST00000346208.3_Missense_Mutation_p.C284Y|GATA3_ENST00000461472.1_Intron	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	284				NA -> RR (in Ref. 4; AAA35870).	aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CACTACCTGTGCAACGCCTGC	0.567			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						18	108					0	0	0	0	A	8106031	G	A	8106031	3	1	450	1	0	0	0	0	1	0	0	0	6304	1319	46	4	864	4	GATA3	10	8106031	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08		8106031	127428716	70	87995											
MAPK8	5599	broad.mit.edu	37	chr10	49612966	49612966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccatttcagaatcagaCtcatgccaagcgggcctaca	12	7	8	14	2	3	2	3	0	0	2	3	3	3	2	4	1	3	0	4	1	3	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:49612966C>T	ENST00000374189.1	+	3	375	c.194C>T	c.(193-195)aCt>aTt	p.T65I	MAPK8_ENST00000360332.3_Missense_Mutation_p.T65I|MAPK8_ENST00000374182.3_Missense_Mutation_p.T65I|MAPK8_ENST00000374174.1_Missense_Mutation_p.T65I|MAPK8_ENST00000395611.3_Missense_Mutation_p.T65I			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	65	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CAGAATCAGACTCATGCCAAG	0.358													5	37					0	0	0	0	T	49612966	C	T	49612966	3	4	450	1	0	0	0	0	1	0	0	0	9352	565	20	4	200	4	MAPK8	10	49612966	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	41506935	49612966	85921781	71	87996											
OGDHL	55753	broad.mit.edu	37	chr10	50944522	50944522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgctcaggggcccGtgctgcggccccatcttcag	4	8	12	17	2	3	0	2	0	1	0	3	0	3	0	4	3	4	3	4	3	0	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:50944522G>A	ENST00000374103.4	-	21	2720	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	OGDHL_ENST00000432695.1_Missense_Mutation_p.R670W|OGDHL_ENST00000419399.1_Missense_Mutation_p.R822W|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	879					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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						TCAGGGGCCCGTGCTGCGGCC	0.637													4	125					0	0	0	0	A	50944522	G	A	50944522	3	1	450	1	0	0	0	0	1	0	0	0	10911	1144	40	1	409	1	OGDHL	10	50944522	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	1331556	50944522	84590225	72	87997											
GRID1	2894	broad.mit.edu	37	chr10	87373297	87373297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgcagcttgagggatttgCcgtcggcctgggcgctggca	4	10	17	10	3	0	1	0	1	0	0	1	2	0	2	2	4	3	4	2	4	0	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:87373297C>T	ENST00000327946.7	-	15	2553	c.2468G>A	c.(2467-2469)gGc>gAc	p.G823D	GRID1_ENST00000536331.1_Missense_Mutation_p.G394D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	823						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGGGATTTGCCGTCGGCCTG	0.652										Multiple Myeloma(13;0.14)			4	115					0	0	0	0	T	87373297	C	T	87373297	3	4	450	1	0	0	0	0	1	0	0	0	6821	739	26	4	569	4	GRID1	10	87373297	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	36428775	87373297	48161450	73	87998											
LDB3	11155	broad.mit.edu	37	chr10	88476357	88476357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccagaagtttgcccCgggcaagagcaccacctcca	9	7	8	17	1	1	2	0	0	1	2	3	2	2	2	6	1	2	3	6	1	2	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:88476357C>T	ENST00000429277.2	+	10	1665	c.1520C>T	c.(1519-1521)cCg>cTg	p.P507L	LDB3_ENST00000361373.4_Missense_Mutation_p.P502L|LDB3_ENST00000352360.5_Missense_Mutation_p.P245L|LDB3_ENST00000458213.2_Missense_Mutation_p.P392L|LDB3_ENST00000263066.6_Missense_Mutation_p.P392L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	502						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AAGTTTGCCCCGGGCAAGAGC	0.672													20	116					0	0	0	0	T	88476357	C	T	88476357	3	4	450	1	0	0	0	0	1	0	0	0	8750	652	23	1	1875	1	LDB3	10	88476357	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	1103060	88476357	47058390	74	87999											
PIK3AP1	118788	broad.mit.edu	37	chr10	98469699	98469699	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggcaccattcctcggcatCcgggctgtagacgatgagga	8	8	13	12	3	0	2	0	1	0	1	3	4	2	3	3	4	0	4	3	4	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:98469699C>G	ENST00000339364.5	-	2	174	c.55G>C	c.(55-57)Gat>Cat	p.D19H		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	19						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTCGGCATCCGGGCTGTAG	0.612													3	70					0	0	0	0	G	98469699	C	G	98469699	3	3	450	1	0	0	0	0	1	0	0	0	11980	855	30	2	2426	2	PIK3AP1	10	98469699	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	9993342	98469699	37065048	75	88000											
GBF1	8729	broad.mit.edu	37	chr10	104135126	104135126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccactccaggtgctgctctCcctgcgcattttgctactga	5	12	8	16	1	1	1	0	1	1	0	3	1	2	1	3	1	5	4	3	1	1	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:104135126C>T	ENST00000369983.3	+	30	3928	c.3668C>T	c.(3667-3669)tCc>tTc	p.S1223F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1223					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTGCTGCTCTCCCTGCGCATT	0.577													11	67					0	0	0	0	T	104135126	C	T	104135126	3	4	450	1	0	0	0	0	1	0	0	0	6320	855	30	2	3782	2	GBF1	10	104135126	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	5665427	104135126	31399621	76	88001											
SHOC2	8036	broad.mit.edu	37	chr10	112724466	112724466	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatacacatattgccatCatcaatcaaagagttgactc	15	12	4	10	0	4	2	3	1	1	1	5	2	4	2	1	0	2	1	1	0	5	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:112724466C>A	ENST00000369452.4	+	2	695	c.350C>A	c.(349-351)tCa>tAa	p.S117*	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S117*	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	117					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATATTGCCATCATCAATCAAA	0.383													7	89					0.248553	0.248553	1	0	A	112724466	C	A	112724466	4	1	450	1	0	0	0	0	0	1	0	0	14375	838	29	2	352	2	SHOC2	10	112724466	Nonsense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	8589340	112724466	22810281	77	88002											
ZDHHC6	64429	broad.mit.edu	37	chr10	114194100	114194100	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttactggccactcaagTccatctccttcagggacccc	7	11	6	17	0	4	0	2	0	2	0	7	1	5	1	5	2	1	0	5	2	2	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:114194100T>C	ENST00000369405.3	-	7	1281	c.858A>G	c.(856-858)ggA>ggG	p.G286G	ZDHHC6_ENST00000369404.3_Silent_p.G282G	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	286						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GCCACTCAAGTCCATCTCCTT	0.418													4	65					0	0	0	0	C	114194100	T	C	114194100	2	2	450	1	0	0	0	0	0	0	0	1	17714	1654	58	5		5	ZDHHC6	10	114194100	Silent	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	1469634	114194100	21340647	78	88003											
STK32C	282974	broad.mit.edu	37	chr10	134039104	134039104	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtggcaatgttgaagtcGgtcaggtgtgcatgtcctgt	7	13	15	6	1	1	1	1	1	0	0	3	1	2	1	1	4	1	3	1	4	2	1	rs79590008	by1000genomes	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:134039104G>T	ENST00000368622.1	-	6	729	c.348C>A	c.(346-348)acC>acA	p.T116T	STK32C_ENST00000368625.4_Silent_p.T246T			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	233	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGTTGAAGTCGGTCAGGTGTG	0.617													31	147					7.11191e-15	8.09286e-15	1	0	T	134039104	G	T	134039104	2	4	450	1	0	0	0	0	0	0	0	1	15389	1103	39	3		3	STK32C	10	134039104	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	19845004	134039104	1495643	79	88004											
PHRF1	57661	broad.mit.edu	37	chr11	607585	607590	+	In_Frame_Del	DEL	GCATCA	GCATCA	-																															cattgagatccccagtgcctGcatcagccgactgactggca																										TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:607585_607590delGCATCA	ENST00000264555.5	+	14	2257_2262	c.2129_2134delGCATCA	c.(2128-2136)tgc>t	p.CIS710del	PHRF1_ENST00000413872.2_In_Frame_Del_p.CIS708del|PHRF1_ENST00000416188.2_In_Frame_Del_p.CIS709del|PHRF1_ENST00000533464.1_In_Frame_Del_p.CIS706del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	710							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCAGTGCCTGCATCAGCCGACTGAC	0.684													16	105	---	---	---	---					-	607590	GCATCA	-	607585	7	5	450	1	0	1	0	1	0	0	0	0	11933	1319	46	0	2176	0	PHRF1	11	607585	In_Frame_Del	DEL	GCATCA	TCGA-MT-A67D-01A-31D-A30E-08		607585	134398931	80	88005											
MUC6	4588	broad.mit.edu	37	chr11	1028255	1028255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcatggagcaggggtcaGtctcacgctccagagcggcc	7	6	15	13	2	3	1	3	0	1	1	5	2	4	2	2	5	2	3	2	5	0	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:1028255G>T	ENST00000421673.2	-	14	1774	c.1724C>A	c.(1723-1725)aCt>aAt	p.T575N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	575	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGGGTCAGTCTCACGCTC	0.667													3	17					0.00909568	0.00915114	1	0	T	1028255	G	T	1028255	3	4	450	1	0	0	0	0	1	0	0	0	10050	1029	36	4	5675	4	MUC6	11	1028255	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	420670	1028255	133978261	81	88006											
MUC5B	727897	broad.mit.edu	37	chr11	1263911	1263911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaccctgagaacagctcCccctcccaaagtgctgacca	10	6	6	19	0	0	2	0	2	0	1	3	3	3	2	6	0	3	2	6	0	2	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:1263911C>T	ENST00000447027.1	+	31	5868	c.5810C>T	c.(5809-5811)cCc>cTc	p.P1937L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P1934L|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1934	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			PPPKVLT -> GTPHVS (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGAACAGCTCCCCCTCCCAAA	0.642													38	153					0	0	0	0	T	1263911	C	T	1263911	3	4	450	1	0	0	0	0	1	0	0	0	10049	623	22	4	5932	4	MUC5B	11	1263911	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	235656	1263911	133742605	82	88007											
TNNT3	7140	broad.mit.edu	37	chr11	1959683	1959683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagcagcaagaaggctggGaccccagccaagggcaaagt	13	3	14	11	0	0	1	0	0	0	1	0	2	0	2	3	3	4	5	3	3	4	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:1959683G>A	ENST00000381558.1	+	15	993	c.714G>A	c.(712-714)ggG>ggA	p.G238G	TNNT3_ENST00000278317.6_Silent_p.G246G|TNNT3_ENST00000381548.3_Silent_p.G248G|TNNT3_ENST00000446240.1_Silent_p.G227G|TNNT3_ENST00000381579.3_Silent_p.G238G|TNNT3_ENST00000360603.3_Silent_p.G240G|TNNT3_ENST00000397304.2_Silent_p.G227G|TNNT3_ENST00000397301.1_Silent_p.G257G|TNNT3_ENST00000381549.3_Silent_p.G238G|TNNT3_ENST00000381561.4_Silent_p.G249G|TNNT3_ENST00000381589.3_Silent_p.G244G			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	257					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGAAGGCTGGGACCCCAGCCA	0.662													25	82					0	0	0	0	A	1959683	G	A	1959683	2	1	450	1	0	0	0	0	0	0	0	1	16426	1161	41	2		2	TNNT3	11	1959683	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	695772	1959683	133046833	83	88008											
FAM160A2	84067	broad.mit.edu	37	chr11	6233034	6233034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaattgtgccgcctgccggGccctggttggactgtgtgca	4	10	14	13	2	0	0	0	0	0	0	0	1	0	1	5	3	3	2	5	3	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:6233034G>A	ENST00000265978.4	-	12	3021	c.2663C>T	c.(2662-2664)gCc>gTc	p.A888V	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A874V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	874					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCCTGCCGGGCCCTGGTTGG	0.607													5	242					0	0	0	0	A	6233034	G	A	6233034	3	1	450	1	0	0	0	0	1	0	0	0	5510	1203	42	4	301	4	FAM160A2	11	6233034	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	4273351	6233034	128773482	84	88009											
DGKZ	8525	broad.mit.edu	37	chr11	46394044	46394044	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtcttcgacctgagccagGgagggcccaaggaggcgtaa	11	5	15	10	2	1	1	0	1	1	0	2	4	1	3	3	4	1	1	3	4	3	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:46394044G>T	ENST00000454345.1	+	12	1683	c.1558G>T	c.(1558-1560)Gga>Tga	p.G520*	DGKZ_ENST00000421244.2_Nonsense_Mutation_p.G332*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.G336*|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.G298*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.G110*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.G332*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.G348*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.G309*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.G331*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	520	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGAGCCAGGGAGGGCCCAA	0.582													13	71					4.36969e-10	4.90475e-10	1	0	T	46394044	G	T	46394044	4	4	450	1	0	0	0	0	0	1	0	0	4511	1233	43	4	2047	4	DGKZ	11	46394044	Nonsense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	40161010	46394044	88612472	85	88010											
INCENP	3619	broad.mit.edu	37	chr11	61897977	61897977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtactctctggtggcCaaacaggaaagtgttgtccg	11	9	12	9	1	1	1	0	0	1	1	3	2	2	2	2	3	2	2	2	3	4	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:61897977C>T	ENST00000394818.3	+	4	1180	c.978C>T	c.(976-978)gcC>gcT	p.A326A	INCENP_ENST00000278849.4_Silent_p.A326A	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	326					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTCTGGTGGCCAAACAGGAAA	0.622													17	104					0	0	0	0	T	61897977	C	T	61897977	2	4	450	1	0	0	0	0	0	0	0	1	7786	581	21	4		4	INCENP	11	61897977	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	15503933	61897977	73108539	86	88011											
PCNXL3	399909	broad.mit.edu	37	chr11	65401690	65401690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcctgtgcgggtgcccGgctatgccgactcggatccc	4	8	15	14	4	0	1	0	1	0	0	2	3	1	2	4	4	3	1	4	4	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:65401690G>A	ENST00000355703.3	+	28	5103	c.4564G>A	c.(4564-4566)Ggc>Agc	p.G1522S	PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1522						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCGGGTGCCCGGCTATGCCGA	0.622													3	28					0	0	0	0	A	65401690	G	A	65401690	3	1	450	1	0	0	0	0	1	0	0	0	11664	1116	39	1	4674	1	PCNXL3	11	65401690	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	3503713	65401690	69604826	87	88012											
GDF3	9573	broad.mit.edu	37	chr12	7842781	7842781	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctggtgacggtggcagAggttcttacaagaaagcttg	11	10	14	6	1	1	3	0	1	1	2	1	3	1	3	0	4	3	4	0	4	4	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:7842781A>T	ENST00000329913.3	-	2	835	c.788T>A	c.(787-789)cTc>cAc	p.L263H		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	263					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACGGTGGCAGAGGTTCTTACA	0.542													18	88					0	0	0	0	T	7842781	A	T	7842781	3	4	450	1	0	0	0	0	1	0	0	0	6366	304	11	5	310	5	GDF3	12	7842781	Missense_Mutation	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08		7842781	126009114	88	88013											
C3AR1	719	broad.mit.edu	37	chr12	8212660	8212660	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacccacagcaccagcccaTtgcctggcaatcccagtaaa	12	5	6	18	0	0	0	0	0	0	0	1	0	1	0	6	1	3	3	6	1	3	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:8212660T>G	ENST00000307637.4	-	2	325	c.122A>C	c.(121-123)aAt>aCt	p.N41T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	41					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CACCAGCCCATTGCCTGGCAA	0.537													18	80					0	0	0	0	G	8212660	T	G	8212660	3	3	450	1	0	0	0	0	1	0	0	0	2225	1493	52	5	1330	5	C3AR1	12	8212660	Missense_Mutation	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	369879	8212660	125639235	89	88014											
SLCO1C1	53919	broad.mit.edu	37	chr12	20868160	20868160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaaactcccattcagcCtttgggcattgcctacctgg	9	10	10	12	0	1	1	1	0	0	1	2	2	2	1	4	3	4	1	4	3	2	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:20868160C>T	ENST00000381552.1	+	6	985	c.617C>T	c.(616-618)cCt>cTt	p.P206L	SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P88L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P206L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P206L			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	206					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCCATTCAGCCTTTGGGCATT	0.418													12	117					0	0	0	0	T	20868160	C	T	20868160	3	4	450	1	0	0	0	0	1	0	0	0	14813	681	24	4	635	4	SLCO1C1	12	20868160	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	12655500	20868160	112983735	90	88015											
SLC26A10	65012	broad.mit.edu	37	chr12	58014154	58014154	+	Frame_Shift_Del	DEL	C	C	-																															ttgctctcctggcctccgtgCccccggtgtttggactctac																										TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:58014154delC	ENST00000379218.2	+	1	462	c.151delC	c.(151-153)ccfs	p.P52fs	SLC26A10_ENST00000320442.4_Frame_Shift_Del_p.P52fs			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	52						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GGCCTCCGTGCCCCCGGTGTT	0.562													7	825	---	---	---	---					-	58014154	C	-	58014154	7	5	450	1	0	1	0	1	0	0	0	0	14603	739	26	0	153	0	SLC26A10	12	58014154	Frame_Shift_Del	DEL	C	TCGA-MT-A67D-01A-31D-A30E-08	37145994	58014154	75837741	91	88016											
DNAH10	196385	broad.mit.edu	37	chr12	124414967	124414967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcatgtatggaggacggGccatcgacagctttgatcgc	9	9	14	9	3	1	1	1	1	0	0	3	4	1	3	1	4	1	2	1	4	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:124414967G>A	ENST00000409039.3	+	72	12302	c.12277G>A	c.(12277-12279)Gcc>Acc	p.A4093T	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4093					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAGGACGGGCCATCGACAG	0.562													3	29					0	0	0	0	A	124414967	G	A	124414967	3	1	450	1	0	0	0	0	1	0	0	0	4635	1203	42	4	12563	4	DNAH10	12	124414967	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	66400813	124414967	9436928	92	88017											
BRCA2	675	broad.mit.edu	37	chr13	32893410	32893410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcaagggctgactctGccgctgtaccaatctcctgt	10	9	10	12	1	2	2	0	1	2	1	3	2	2	2	3	1	3	4	3	1	4	1	rs80359341		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr13:32893410G>A	ENST00000544455.1	+	3	491	c.264G>A	c.(262-264)ctG>ctA	p.L88L	BRCA2_ENST00000380152.3_Silent_p.L88L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	88					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGCTGACTCTGCCGCTGTACC	0.363			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	53					0	0	0	0	A	32893410	G	A	32893410	2	1	450	1	0	0	0	0	0	0	0	1	1507	1306	46	4		4	BRCA2	13	32893410	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08		32893410	82276468	93	88018											
BRCA2	675	broad.mit.edu	37	chr13	32911001	32911002	+	Frame_Shift_Ins	INS	-	-	A																															cgttgagctgttgccacctgINSaaaaatacatgagagtagca																										TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr13:32911001_32911002insA	ENST00000544455.1	+	11	2736_2737	c.2509_2510insA	c.(2509-2511)aaafs	p.K837fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.K837fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	837	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTTGCCACCTGAAAAATACATG	0.307			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			7	59	---	---	---	---					A	32911002	-	A	32911001	7	5	450	1	0	1	1	0	0	0	0	0	1507	1291	45	0	2547	0	BRCA2	13	32911001	Frame_Shift_Ins	INS	-	TCGA-MT-A67D-01A-31D-A30E-08	17591	32911001	82258877	94	88019											
PCCA	5095	broad.mit.edu	37	chr13	100959482	100959482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatccaaccaggaagtgatAttagcatttattatgatcct	13	13	7	8	0	0	2	0	2	0	0	2	3	2	3	3	1	2	2	3	1	6	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr13:100959482A>T	ENST00000376285.1	+	15	1359	c.1321A>T	c.(1321-1323)Att>Ttt	p.I441F	PCCA_ENST00000376279.3_Missense_Mutation_p.I441F|PCCA_ENST00000376286.4_Missense_Mutation_p.I415F	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	441	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGGAAGTGATATTAGCATTTA	0.299													8	27					0	0	0	0	T	100959482	A	T	100959482	3	4	450	1	0	0	0	0	1	0	0	0	11575	449	16	5	1379	5	PCCA	13	100959482	Missense_Mutation	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08	68048481	100959482	14210396	95	88020											
CHMP4A	29082	broad.mit.edu	37	chr14	24682710	24682710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccgccttgctcctgggaGggtgatgtctcatcacacag	6	11	11	13	1	2	1	2	1	1	0	5	2	4	2	3	2	1	1	3	2	0	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr14:24682710G>A	ENST00000347519.6	-	1	365	c.65C>T	c.(64-66)cCt>cTt	p.P22L	AL136419.6_ENST00000565988.1_RNA	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A											NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GCTCCTGGGAGGGTGATGTCT	0.657													5	49					0	0	0	0	A	24682710	G	A	24682710	3	1	450	1	0	0	0	0	1	0	0	0	3385	1000	35	4	756	4	CHMP4A	14	24682710	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08		24682710	82666830	96	88021											
BAZ1A	11177	broad.mit.edu	37	chr14	35253084	35253084	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaatccctagttgaaacTagggtcagtagctttccaca	14	11	7	9	0	1	1	1	1	0	0	3	1	3	1	2	1	2	3	2	1	6	6			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr14:35253084T>C	ENST00000360310.1	-	15	2448	c.1881A>G	c.(1879-1881)ctA>ctG	p.L627L	BAZ1A_ENST00000382422.2_Silent_p.L627L|BAZ1A_ENST00000358716.4_Silent_p.L595L	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	627					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TAGTTGAAACTAGGGTCAGTA	0.368													10	58					0	0	0	0	C	35253084	T	C	35253084	2	2	450	1	0	0	0	0	0	0	0	1	1333	1509	53	5		5	BAZ1A	14	35253084	Silent	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	10570374	35253084	72096456	97	88022											
SERPINA1	5265	broad.mit.edu	37	chr14	94849510	94849510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggggatcctcagccaggGagacagggaccaggcagcac	10	3	15	13	0	1	1	1	0	0	1	2	4	2	3	4	5	2	2	4	5	0	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr14:94849510G>A	ENST00000448921.1	-	4	637	c.65C>T	c.(64-66)tCc>tTc	p.S22F	SERPINA1_ENST00000402629.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S22F|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S22F	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	22					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CTCAGCCAGGGAGACAGGGAC	0.612													7	75					0	0	0	0	A	94849510	G	A	94849510	3	1	450	1	0	0	0	0	1	0	0	0	14173	1174	41	2	1207	2	SERPINA1	14	94849510	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	59596426	94849510	12500030	98	88023											
FSIP1	161835	broad.mit.edu	37	chr15	39909959	39909959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattgtattctctggagaaCtgagtttcagatgttggtct	8	17	10	6	0	3	3	1	1	2	2	4	4	3	3	0	2	1	3	0	2	3	6			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr15:39909959C>T	ENST00000350221.3	-	11	1885	c.1676G>A	c.(1675-1677)aGt>aAt	p.S559N		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	559										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CTCTGGAGAACTGAGTTTCAG	0.393													10	60					0	0	0	0	T	39909959	C	T	39909959	3	4	450	1	0	0	0	0	1	0	0	0	6122	565	20	4	77	4	FSIP1	15	39909959	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		39909959	62621433	99	88024											
TCF12	6938	broad.mit.edu	37	chr15	57545575	57545575	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacagtgatatacatagttTattgggaccatcccataatg	13	13	7	8	0	1	1	1	1	0	0	2	2	2	2	2	1	1	1	2	1	5	7			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr15:57545575T>C	ENST00000267811.5	+	15	1608	c.1304T>C	c.(1303-1305)tTa>tCa	p.L435S	TCF12_ENST00000543579.1_Missense_Mutation_p.L289S|TCF12_ENST00000559710.1_Missense_Mutation_p.L69S|TCF12_ENST00000333725.5_Missense_Mutation_p.L459S|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000438423.2_Missense_Mutation_p.L459S|TCF12_ENST00000559703.1_Missense_Mutation_p.L93S|TCF12_ENST00000452095.2_Missense_Mutation_p.L455S|TCF12_ENST00000557843.1_Missense_Mutation_p.L435S|TCF12_ENST00000343827.3_Missense_Mutation_p.L265S|TCF12_ENST00000537840.1_Missense_Mutation_p.L199S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	435					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATACATAGTTTATTGGGACCA	0.458			T	TEC	extraskeletal myxoid chondrosarcoma								8	71					0	0	0	0	C	57545575	T	C	57545575	3	2	450	1	0	0	0	0	1	0	0	0	15781	1764	61	5	1507	5	TCF12	15	57545575	Missense_Mutation	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	17635616	57545575	44985817	100	88025											
KIF23	9493	broad.mit.edu	37	chr15	69718764	69718764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acattaaattagttcaggctCccttggatgcagatggagac	12	11	10	8	0	1	2	1	0	0	2	2	4	2	3	1	3	1	3	1	3	3	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr15:69718764C>T	ENST00000260363.4	+	9	1054	c.937C>T	c.(937-939)Ccc>Tcc	p.P313S	KIF23_ENST00000352331.4_Missense_Mutation_p.P313S|KIF23_ENST00000537891.1_Missense_Mutation_p.P130S|KIF23_ENST00000559279.1_Missense_Mutation_p.P313S|KIF23_ENST00000395392.2_Missense_Mutation_p.P313S|KIF23_ENST00000558585.1_Missense_Mutation_p.P130S	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	313	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AGTTCAGGCTCCCTTGGATGC	0.398													35	161					0	0	0	0	T	69718764	C	T	69718764	3	4	450	1	0	0	0	0	1	0	0	0	8342	855	30	2	971	2	KIF23	15	69718764	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	12173189	69718764	32812628	101	88026											
WDR90	197335	broad.mit.edu	37	chr16	711364	711364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggcctctgcctcgggccGaagcagcacgaccgcccatt	6	6	11	18	4	1	0	0	0	1	0	2	2	1	0	6	2	3	2	6	2	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:711364G>A	ENST00000549091.1	+	30	3628	c.3536G>A	c.(3535-3537)cGa>cAa	p.R1179Q	WDR90_ENST00000293879.4_Missense_Mutation_p.R1179Q	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1179										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCTCGGGCCGAAGCAGCACG	0.682													11	42					0	0	0	0	A	711364	G	A	711364	3	1	450	1	0	0	0	0	1	0	0	0	17433	1058	37	1	3654	1	WDR90	16	711364	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08		711364	89643389	102	88027											
WDR90	197335	broad.mit.edu	37	chr16	716723	716723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccttctgcccttgggatggGgcgctcctgatgtacgtggg	3	11	16	11	2	1	1	0	1	1	0	2	2	2	2	3	4	2	2	3	4	1	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:716723G>A	ENST00000549091.1	+	39	5033	c.4941G>A	c.(4939-4941)ggG>ggA	p.G1647G	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Silent_p.G196G|WDR90_ENST00000293879.4_Silent_p.G1645G|WDR90_ENST00000547944.1_Silent_p.G244G	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1645										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTTGGGATGGGGCGCTCCTGA	0.647													19	67					0	0	0	0	A	716723	G	A	716723	2	1	450	1	0	0	0	0	0	0	0	1	17433	1219	43	4		4	WDR90	16	716723	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	5359	716723	89638030	103	88028											
PRSS27	83886	broad.mit.edu	37	chr16	2764296	2764296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccggctgcactagctgcCttgcccccagcaggacctgg	5	7	12	17	1	0	0	0	0	0	0	1	1	1	1	5	3	5	4	5	3	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:2764296C>T	ENST00000302641.3	-	4	332	c.278G>A	c.(277-279)aGg>aAg	p.R93K		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	93	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CACTAGCTGCCTTGCCCCCAG	0.692													3	14					0	0	0	0	T	2764296	C	T	2764296	3	4	450	1	0	0	0	0	1	0	0	0	12700	681	24	4	606	4	PRSS27	16	2764296	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	2047573	2764296	87590457	104	88029											
SCNN1B	6338	broad.mit.edu	37	chr16	23364284	23364284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttattgatgaacggaacccCcaccaccccatggtccttga	10	9	7	15	1	0	3	0	3	0	0	1	4	1	4	6	2	2	0	6	2	3	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:23364284C>T	ENST00000343070.2	+	3	650	c.474C>T	c.(472-474)ccC>ccT	p.P158P	SCNN1B_ENST00000307331.5_Silent_p.P203P|SCNN1B_ENST00000568923.1_Silent_p.P158P|SCNN1B_ENST00000568085.1_Silent_p.P158P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	158					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AACGGAACCCCCACCACCCCA	0.517													14	133					0	0	0	0	T	23364284	C	T	23364284	2	4	450	1	0	0	0	0	0	0	0	1	14015	610	22	4		4	SCNN1B	16	23364284	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	20599988	23364284	66990469	105	88030											
ARHGAP17	55114	broad.mit.edu	37	chr16	24950790	24950790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctggggagggggctctGggccagcgggcaccacggtg	5	5	20	11	2	2	0	0	0	2	0	2	1	2	1	2	7	2	3	2	7	0	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:24950790G>A	ENST00000289968.6	-	17	1688	c.1619C>T	c.(1618-1620)cCa>cTa	p.P540L	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	540	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGGGGGCTCTGGGCCAGCGGG	0.677													3	24					0	0	0	0	A	24950790	G	A	24950790	3	1	450	1	0	0	0	0	1	0	0	0	869	1348	47	4	1042	4	ARHGAP17	16	24950790	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	1586506	24950790	65403963	106	88031											
DNAJA2	10294	broad.mit.edu	37	chr16	47005331	47005331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgattgcccatgaagcCgaacaatcccccaccaaaaa	15	6	5	15	1	1	2	0	2	1	0	2	3	2	2	5	0	3	0	5	0	5	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:47005331C>T	ENST00000317089.5	-	3	507	c.292G>A	c.(292-294)Ggc>Agc	p.G98S		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	98					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CCCATGAAGCCGAACAATCCC	0.448													20	125					0	0	0	0	T	47005331	C	T	47005331	3	4	450	1	0	0	0	0	1	0	0	0	4648	652	23	1	974	1	DNAJA2	16	47005331	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	22054541	47005331	43349422	107	88032											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214239	67214239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagggtgccacgccccCgccggccagtactatttaca	7	7	10	17	3	0	0	0	0	0	0	1	0	1	0	6	2	3	1	6	2	3	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:67214239C>T	ENST00000290881.7	-	3	1201	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R92Q|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R92Q			Q68EN5	K895L_HUMAN	KIAA0895-like	92										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCCACGCCCCCGCCGGCCAGT	0.667													9	23					0	0	0	0	T	67214239	C	T	67214239	3	4	450	1	0	0	0	0	1	0	0	0	8249	652	23	1	1164	1	KIAA0895L	16	67214239	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	20208908	67214239	23140514	108	88033											
CNTNAP4	85445	broad.mit.edu	37	chr16	76556015	76556015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcacccacccacttcaaCgacaaccagtggcaccatgt	12	6	6	17	1	2	0	2	0	0	0	2	1	2	0	4	1	2	1	4	1	2	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:76556015C>T	ENST00000307431.8	+	18	2998	c.2613C>T	c.(2611-2613)aaC>aaT	p.N871N	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.N799N|CNTNAP4_ENST00000377504.4_Silent_p.N823N|CNTNAP4_ENST00000476707.1_Silent_p.N875N	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	872	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.N871K(1)|p.N799K(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCACTTCAACGACAACCAGT	0.502													20	145					0	0	0	0	T	76556015	C	T	76556015	2	4	450	1	0	0	0	0	0	0	0	1	3679	535	19	1		1	CNTNAP4	16	76556015	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	9341776	76556015	13798738	109	88034											
CPNE7	27132	broad.mit.edu	37	chr16	89661966	89661966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccacggggtgagcccgcGctccgggacatcgtacagtt	6	7	13	15	5	0	1	0	1	0	0	3	2	2	2	4	3	2	3	4	3	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:89661966G>A	ENST00000268720.5	+	16	1849	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.A498A	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	573	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GTGAGCCCGCGCTCCGGGACA	0.662													9	46					0	0	0	0	A	89661966	G	A	89661966	2	1	450	1	0	0	0	0	0	0	0	1	3847	1074	38	1		1	CPNE7	16	89661966	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	13105951	89661966	692787	110	88035											
SEZ6	124925	broad.mit.edu	37	chr17	27308504	27308504	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggatcccgatccctgcGccctgggacacaacctctgc	6	7	9	19	2	1	0	0	0	1	0	3	3	3	2	5	2	3	0	5	2	1	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:27308504G>A	ENST00000317338.12	-	2	1037	c.609C>T	c.(607-609)ggC>ggT	p.G203G	SEZ6_ENST00000335960.6_Silent_p.G203G|SEZ6_ENST00000442608.3_Silent_p.G203G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.G203G			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	203						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGATCCCTGCGCCCTGGGACA	0.602													3	16					0	0	0	0	A	27308504	G	A	27308504	2	1	450	1	0	0	0	0	0	0	0	1	14229	1074	38	1		1	SEZ6	17	27308504	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08		27308504	53886706	111	88036											
KIF18B	146909	broad.mit.edu	37	chr17	43009516	43009516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacctgggcctccatccCcagactctcctcttgaaggg	6	9	8	18	0	2	2	0	1	2	1	6	2	5	2	7	2	0	0	7	2	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:43009516C>T	ENST00000587309.1	-	10	1356	c.1333G>A	c.(1333-1335)Ggg>Agg	p.G445R	KIF18B_ENST00000593135.1_Missense_Mutation_p.G433R|KIF18B_ENST00000590129.1_Missense_Mutation_p.G454R|KIF18B_ENST00000438933.2_Missense_Mutation_p.G445R|KIF18B_ENST00000339151.4_Missense_Mutation_p.G445R	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCTCCATCCCCAGACTCTCC	0.642													10	28					0	0	0	0	T	43009516	C	T	43009516	3	4	450	1	0	0	0	0	1	0	0	0	8332	623	22	4	1261	4	KIF18B	17	43009516	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	15701012	43009516	38185694	112	88037											
NACA2	342538	broad.mit.edu	37	chr17	59668532	59668532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggacggtttctgtggcttCgcccggcattttgtgcaggg	4	12	16	9	3	1	0	0	0	1	0	2	1	1	1	1	5	1	4	1	5	0	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:59668532C>T	ENST00000521764.1	-	1	31	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	4					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTGTGGCTTCGCCCGGCATT	0.582													4	64					0	0	0	0	T	59668532	C	T	59668532	3	4	450	1	0	0	0	0	1	0	0	0	10204	893	31	1	641	1	NACA2	17	59668532	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	16659016	59668532	21526678	113	88038											
GALK1	2584	broad.mit.edu	37	chr17	73758797	73758797	+	Frame_Shift_Del	DEL	C	C	-																															gttctcaccctctagctcttCcagttgtacctcccggaggc																										TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:73758797delC	ENST00000588479.1	-	5	1355	c.781delG	c.(781-783)aafs	p.E262fs	GALK1_ENST00000225614.2_Frame_Shift_Del_p.E262fs|GALK1_ENST00000437911.1_Frame_Shift_Del_p.E292fs			P51570	GALK1_HUMAN	galactokinase 1	262					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTAGCTCTTCCAGTTGTACC	0.667													14	77	---	---	---	---					-	73758797	C	-	73758797	7	5	450	1	0	1	0	1	0	0	0	0	6252	864	30	0	413	0	GALK1	17	73758797	Frame_Shift_Del	DEL	C	TCGA-MT-A67D-01A-31D-A30E-08	14090265	73758797	7436413	114	88039											
PTPRM	5797	broad.mit.edu	37	chr18	7955231	7955231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcccattgtggcccgagaGgtggagtactgcacggccag	7	6	17	11	2	0	1	0	0	0	1	0	3	0	2	3	5	2	2	3	5	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr18:7955231G>A	ENST00000332175.8	+	7	1988	c.951G>A	c.(949-951)gaG>gaA	p.E317E	PTPRM_ENST00000444013.1_Silent_p.E104E|PTPRM_ENST00000580170.1_Silent_p.E317E|PTPRM_ENST00000400053.4_Silent_p.E255E|PTPRM_ENST00000400060.4_Silent_p.E317E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	317	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGCCCGAGAGGTGGAGTACT	0.557													14	43					0	0	0	0	A	7955231	G	A	7955231	2	1	450	1	0	0	0	0	0	0	0	1	12888	991	35	4		4	PTPRM	18	7955231	Silent	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08		7955231	70122017	115	88040											
CEP192	55125	broad.mit.edu	37	chr18	13048862	13048862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctcacttctaggacaCtttcttcatgagcaacaaac	12	14	4	11	0	4	1	2	1	3	0	5	2	4	2	0	1	3	1	0	1	3	6			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr18:13048862C>T	ENST00000506447.1	+	16	2152	c.2072C>T	c.(2071-2073)aCt>aTt	p.T691I	CEP192_ENST00000430049.2_Missense_Mutation_p.T216I|CEP192_ENST00000325971.8_Missense_Mutation_p.T95I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	286										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCTAGGACACTTTCTTCATG	0.398													15	34					0	0	0	0	T	13048862	C	T	13048862	3	4	450	1	0	0	0	0	1	0	0	0	3280	565	20	4	2130	4	CEP192	18	13048862	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	5093631	13048862	65028386	116	88041											
C19orf35	374872	broad.mit.edu	37	chr19	2276297	2276297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcggctgcgtgcaggcCtccgccagccactgcgccac	4	5	13	19	5	0	0	0	0	0	0	2	0	2	0	6	3	4	2	6	3	0	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:2276297C>G	ENST00000342063.3	-	4	897	c.804G>C	c.(802-804)gaG>gaC	p.E268D		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	268										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GCGTGCAGGCCTCCGCCAGCC	0.741													3	12					0	0	0	0	G	2276297	C	G	2276297	3	3	450	1	0	0	0	0	1	0	0	0	1938	680	24	4	621	4	C19orf35	19	2276297	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		2276297	56852686	117	88042											
TMPRSS9	360200	broad.mit.edu	37	chr19	2415714	2415714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccacccgggtcgtgggCgggttcggagctgcctccgg	4	6	17	14	5	0	0	0	0	0	0	3	1	1	1	4	5	3	2	4	5	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:2415714C>T	ENST00000332578.3	+	10	1518	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	506	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGGTCGTGGGCGGGTTCGGAG	0.677													4	50					0	0	0	0	T	2415714	C	T	2415714	2	4	450	1	0	0	0	0	0	0	0	1	16347	755	27	1		1	TMPRSS9	19	2415714	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	139417	2415714	56713269	118	88043											
FUT3	2525	broad.mit.edu	37	chr19	5844507	5844507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggcgtgacttagggttgGacatgatatcccagtggtgc	8	10	16	7	1	0	2	0	2	0	0	1	4	1	4	1	5	1	1	1	5	2	3	rs141188376		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:5844507G>T	ENST00000303225.6	-	3	978	c.344C>A	c.(343-345)tCc>tAc	p.S115Y	FUT3_ENST00000458379.2_Missense_Mutation_p.S115Y|FUT3_ENST00000589620.1_Missense_Mutation_p.S115Y|FUT3_ENST00000589918.1_Missense_Mutation_p.S115Y	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	115					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTTAGGGTTGGACATGATATC	0.622													15	111					7.93312e-07	8.66864e-07	1	0	T	5844507	G	T	5844507	3	4	450	1	0	0	0	0	1	0	0	0	6153	1174	41	2	745	2	FUT3	19	5844507	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	3428793	5844507	53284476	119	88044											
ZNF14	7561	broad.mit.edu	37	chr19	19823218	19823218	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccttcgaaaagaactgAgaaaactgaaggctttacca	16	9	8	8	1	0	3	0	2	0	2	1	5	0	3	2	1	4	1	2	1	8	4			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:19823218A>T	ENST00000344099.3	-	4	1010	c.872T>A	c.(871-873)cTc>cAc	p.L291H		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAAAGAACTGAGAAAACTGAA	0.388													4	36					0	0	0	0	T	19823218	A	T	19823218	3	4	450	1	0	0	0	0	1	0	0	0	17823	304	11	5	1060	5	ZNF14	19	19823218	Missense_Mutation	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08	13978711	19823218	39305765	120	88045											
ZNF208	7757	broad.mit.edu	37	chr19	22154756	22154756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcacatttgtagggtGtctctccagtgtgaattttc	7	18	8	8	0	3	1	1	1	2	0	6	1	4	1	1	1	0	1	1	1	2	6			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:22154756G>T	ENST00000397126.4	-	4	3228	c.3080C>A	c.(3079-3081)aCa>aAa	p.T1027K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTGTAGGGTGTCTCTCCAGT	0.413													7	81					0.000274275	0.000286427	1	0	T	22154756	G	T	22154756	3	4	450	1	0	0	0	0	1	0	0	0	17861	1377	48	4	766	4	ZNF208	19	22154756	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	2331538	22154756	36974227	121	88046											
ZBTB32	27033	broad.mit.edu	37	chr19	36205627	36205627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactctgtgatactctgatCaccgtagggagccaggagtt	9	10	12	10	1	3	2	1	2	2	0	3	4	3	4	2	2	2	3	2	2	2	3			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:36205627C>T	ENST00000392197.2	+	3	417	c.99C>T	c.(97-99)atC>atT	p.I33I	ZBTB32_ENST00000262630.3_Silent_p.I33I			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	33	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATACTCTGATCACCGTAGGGA	0.642													13	120					0	0	0	0	T	36205627	C	T	36205627	2	4	450	1	0	0	0	0	0	0	0	1	17630	816	29	2		2	ZBTB32	19	36205627	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	14050871	36205627	22923356	122	88047											
CYTH2	9266	broad.mit.edu	37	chr19	48981550	48981550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacaaggagccccgaggaAtcatccccctggagaatctg	12	5	12	12	1	2	1	1	0	1	1	3	6	3	4	4	4	1	0	4	4	3	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:48981550A>G	ENST00000427476.1	+	10	1207	c.907A>G	c.(907-909)Atc>Gtc	p.I303V	CYTH2_ENST00000452733.2_Missense_Mutation_p.I302V	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	303	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCCCGAGGAATCATCCCCCT	0.622													15	87					0	0	0	0	G	48981550	A	G	48981550	3	3	450	1	0	0	0	0	1	0	0	0	4236	101	4	5	945	5	CYTH2	19	48981550	Missense_Mutation	SNP	A	TCGA-MT-A67D-01A-31D-A30E-08	12775923	48981550	10147433	123	88048											
FUZ	80199	broad.mit.edu	37	chr19	50310533	50310533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaggccaccagacgcaCtcctgtgcctggttcctcag	7	8	10	16	1	1	1	1	0	0	1	3	1	3	1	5	2	2	3	5	2	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:50310533C>T	ENST00000313777.4	-	11	1295	c.1132G>A	c.(1132-1134)Gtg>Atg	p.V378M	FUZ_ENST00000445575.2_Splice_Site|FUZ_ENST00000528094.1_Missense_Mutation_p.V342M|FUZ_ENST00000533418.1_Missense_Mutation_p.V328M	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	378	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		ACCAGACGCACTCCTGTGCCT	0.642													10	47					0	0	0	0	T	50310533	C	T	50310533	3	4	450	1	0	0	0	0	1	0	0	0	6160	565	20	4	128	4	FUZ	19	50310533	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	1328983	50310533	8818450	124	88049											
LENG9	94059	broad.mit.edu	37	chr19	54973383	54973383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcctggctgagggtgaactCcagcttggggaggtggacct	6	10	16	9	0	0	2	0	2	0	0	2	4	2	4	3	6	2	2	3	6	1	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:54973383C>G	ENST00000333834.4	-	1	1511	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	465					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGGGTGAACTCCAGCTTGGGG	0.652													22	118					0	0	0	0	G	54973383	C	G	54973383	3	3	450	1	0	0	0	0	1	0	0	0	8778	864	30	2	116	2	LENG9	19	54973383	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08	4662850	54973383	4155600	125	88050											
TMEM190	147744	broad.mit.edu	37	chr19	55889217	55889217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtctggacgtgcagcGgcctcctcctcctgagctgc	3	9	13	16	3	1	1	0	1	1	0	4	2	4	2	4	3	4	3	4	3	0	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:55889217G>A	ENST00000291934.3	+	4	286	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	90						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GACGTGCAGCGGCCTCCTCCT	0.697													9	63					0	0	0	0	A	55889217	G	A	55889217	3	1	450	1	0	0	0	0	1	0	0	0	16208	1116	39	1	282	1	TMEM190	19	55889217	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	915834	55889217	3239766	126	88051											
ZNF835	90485	broad.mit.edu	37	chr19	57175629	57175629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctctggctgaagagcGcgccgcagtcctggcacgtg	6	6	16	13	5	1	2	0	1	1	1	2	2	2	2	2	3	1	4	2	3	1	0			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:57175629G>A	ENST00000537055.2	-	2	1169	c.938C>T	c.(937-939)gCg>gTg	p.A313V		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCTGAAGAGCGCGCCGCAGTC	0.706													4	24					0	0	0	0	A	57175629	G	A	57175629	3	1	450	1	0	0	0	0	1	0	0	0	18279	1087	38	1	677	1	ZNF835	19	57175629	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	1286412	57175629	1953354	127	88052											
ZNF264	9422	broad.mit.edu	37	chr19	57716772	57716772	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccataaacagggtgtccTgttcccaaagctgagctgat	10	11	9	11	0	1	2	0	2	1	0	4	2	3	2	3	1	3	3	3	1	3	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:57716772T>A	ENST00000263095.6	+	3	582	c.168T>A	c.(166-168)ccT>ccA	p.P56P	ZNF264_ENST00000536056.1_Silent_p.P56P	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGGGTGTCCTGTTCCCAAAG	0.512													3	15					0	0	0	0	A	57716772	T	A	57716772	2	1	450	1	0	0	0	0	0	0	0	1	17899	1567	55	5		5	ZNF264	19	57716772	Silent	SNP	T	TCGA-MT-A67D-01A-31D-A30E-08	541143	57716772	1412211	128	88053											
ZNF132	7691	broad.mit.edu	37	chr19	58944698	58944698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggctccactcaggtatGaatctttttatgctgtgcaa	11	14	8	8	0	2	1	1	1	1	0	3	1	3	1	1	2	2	4	1	2	5	5			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:58944698G>T	ENST00000254166.3	-	3	2513	c.2113C>A	c.(2113-2115)Cat>Aat	p.H705N		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	705						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		ACTCAGGTATGAATCTTTTTA	0.433													19	105					4.96729e-08	5.46402e-08	1	0	T	58944698	G	T	58944698	3	4	450	1	0	0	0	0	1	0	0	0	17817	1290	45	2	11	2	ZNF132	19	58944698	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	1227926	58944698	184285	129	88054											
SLC5A3	6526	broad.mit.edu	37	chr21	35467771	35467771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccttactgcttttacaaCttctgggatgggttttcatc	7	17	8	9	0	2	0	1	0	1	0	3	1	2	1	1	2	5	2	1	2	3	6			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr21:35467771C>T	ENST00000381151.3	+	2	786	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	92						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GCTTTTACAACTTCTGGGATG	0.478													14	88					0	0	0	0	T	35467771	C	T	35467771	3	4	450	1	0	0	0	0	1	0	0	0	14754	565	20	4	276	4	SLC5A3	21	35467771	Missense_Mutation	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		35467771	12662124	130	88055											
CLTCL1	8218	broad.mit.edu	37	chr22	19188854	19188854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctccttccacgtccGggtgctgctggccttgcggc	2	10	12	17	3	1	0	1	0	0	0	4	0	4	0	5	3	3	3	5	3	0	2			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr22:19188854G>A	ENST00000263200.10	-	23	3823	c.3751C>T	c.(3751-3753)Cgg>Tgg	p.R1251W	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1251W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1251W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1251	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTCCACGTCCGGGTGCTGCTG	0.592			T	?	ALCL								5	24					0	0	0	0	A	19188854	G	A	19188854	3	1	450	1	0	0	0	0	1	0	0	0	3597	1115	39	1	1211	1	CLTCL1	22	19188854	Missense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08		19188854	32115712	131	88056											
GTSE1	51512	broad.mit.edu	37	chr22	46704348	46704348	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgagagtccctttgcctgGagccctctggccggggagaa	6	9	14	12	1	2	2	0	1	2	2	3	5	3	3	4	4	2	0	4	4	1	1			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr22:46704348G>A	ENST00000454366.1	+	4	482	c.270G>A	c.(268-270)tgG>tgA	p.W90*		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	71					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTTTGCCTGGAGCCCTCTGG	0.527													17	177					0	0	0	0	A	46704348	G	A	46704348	4	1	450	1	0	0	0	0	0	1	0	0	6935	1183	41	2	280	2	GTSE1	22	46704348	Nonsense_Mutation	SNP	G	TCGA-MT-A67D-01A-31D-A30E-08	27515494	46704348	4600218	132	88057											
FGD1	2245	broad.mit.edu	37	chrX	54475672	54475672	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccttttcccggatgggCgtaggtgcccgcttcccaag	5	11	11	14	3	0	0	0	0	0	0	3	1	3	1	4	3	1	2	4	3	2	5	rs144498939	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chrX:54475672C>T	ENST00000375135.3	-	15	2911	c.2178G>A	c.(2176-2178)acG>acA	p.T726T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	726					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCGGATGGGCGTAGGTGCCC	0.602													7	20					0	0	0	0	T	54475672	C	T	54475672	2	4	450	1	0	0	0	0	0	0	0	1	5877	755	27	1		1	FGD1	23	54475672	Silent	SNP	C	TCGA-MT-A67D-01A-31D-A30E-08		54475672	100794888	133	88058											
TPRG1L	127262	broad.mit.edu	37	chr1	3545080	3545080	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctggagcgccccctgctCatcgagacctacgtgggact	7	8	11	15	3	1	1	1	0	0	1	3	4	2	3	4	2	3	1	4	2	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:3545080C>T	ENST00000378344.2	+	5	803	c.732C>T	c.(730-732)ctC>ctT	p.L244L	TPRG1L_ENST00000344579.5_Silent_p.L185L	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	244						cell junction|synaptic vesicle		p.L244L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GCCCCCTGCTCATCGAGACCT	0.532													5	45					0	0	0	0	T	3545080	C	T	3545080	2	4	451	1	0	0	0	0	0	0	0	1	16514	813	29	2		2	TPRG1L	1	3545080	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		3545080	245705541	1	88059											
SLC25A33	84275	broad.mit.edu	37	chr1	9633463	9633463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaaacccgaatgcagctaGaacagaagtaagttattatt	17	11	7	6	1	0	2	0	0	0	2	0	3	0	2	1	0	4	4	1	0	9	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:9633463G>C	ENST00000302692.6	+	5	685	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	159					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		AATGCAGCTAGAACAGAAGTA	0.333													4	28					0	0	0	0	C	9633463	G	C	9633463	3	2	451	1	0	0	0	0	1	0	0	0	14585	943	33	2	493	2	SLC25A33	1	9633463	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	6088383	9633463	239617158	2	88060											
VPS13D	55187	broad.mit.edu	37	chr1	12520312	12520312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtggaaggtgtgaaaacaGaagggggtgtcagcggtttc	11	8	17	5	1	1	2	1	1	0	1	2	3	1	3	0	5	2	1	0	5	4	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12520312G>C	ENST00000358136.3	+	67	12653	c.12523G>C	c.(12523-12525)Gaa>Caa	p.E4175Q	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.E173Q|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4150Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4174					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTGAAAACAGAAGGGGGTGT	0.488													14	121					0	0	0	0	C	12520312	G	C	12520312	3	2	451	1	0	0	0	0	1	0	0	0	17288	943	33	2	12785	2	VPS13D	1	12520312	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2886849	12520312	236730309	3	88061											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837451	12837451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcttctgtgggaacctCatctccatggccgccctgga	6	11	10	14	1	4	0	2	0	2	0	5	2	4	2	4	3	2	1	4	3	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12837451C>T	ENST00000357726.4	+	3	1188	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	387										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGAACCTCATCTCCATGG	0.612													27	217					0	0	0	0	T	12837451	C	T	12837451	2	4	451	1	0	0	0	0	0	0	0	1	12504	813	29	2		2	PRAMEF12	1	12837451	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	317139	12837451	236413170	4	88062											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907710	12907710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcctgatagacgttgacGtttcgagggcactacagcca	9	11	11	10	3	0	3	0	2	0	1	2	4	1	3	2	1	2	4	2	1	2	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12907710G>A	ENST00000317869.6	-	2	658	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGACGTTGACGTTTCGAGGGC	0.488													34	193					0	0	0	0	A	12907710	G	A	12907710	3	1	451	1	0	0	0	0	1	0	0	0	7313	1145	40	1	450	1	HNRNPCL1	1	12907710	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	70259	12907710	236342911	5	88063											
PADI3	51702	broad.mit.edu	37	chr1	17603150	17603150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagctttgtccctgcccccGatgggaaggtaagaacttcg	8	10	12	11	2	0	2	0	1	0	1	2	4	1	3	3	2	3	2	3	2	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:17603150G>A	ENST00000375460.3	+	12	1484	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	482					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCTGCCCCCGATGGGAAGGT	0.597													9	101					0	0	0	0	A	17603150	G	A	17603150	3	1	451	1	0	0	0	0	1	0	0	0	11450	1058	37	1	1490	1	PADI3	1	17603150	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4695440	17603150	231647471	6	88064											
HP1BP3	50809	broad.mit.edu	37	chr1	21072088	21072088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttcttctgatgactcatCttcatcttcatcctcatctc	6	18	3	14	0	10	2	4	2	6	0	12	2	11	2	1	0	0	0	1	0	0	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:21072088C>G	ENST00000375003.2	-	8	2359	c.859G>C	c.(859-861)Gat>Cat	p.D287H	HP1BP3_ENST00000312239.5_Missense_Mutation_p.D439H			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	439	H15 2.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GATGACTCATCTTCATCTTCA	0.448													14	88					0	0	0	0	G	21072088	C	G	21072088	3	3	451	1	0	0	0	0	1	0	0	0	7378	913	32	2	354	2	HP1BP3	1	21072088	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3468938	21072088	228178533	7	88065											
MED18	54797	broad.mit.edu	37	chr1	28660984	28660984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgccttcgtggtttgtgtGacaacatggaacctgagact	9	11	11	10	2	0	2	0	2	0	1	1	4	0	3	3	2	2	1	3	2	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:28660984G>A	ENST00000373842.4	+	3	339	c.130G>A	c.(130-132)Gac>Aac	p.D44N	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.D44N	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	44					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTTTGTGTGACAACATGGA	0.483													49	279					0	0	0	0	A	28660984	G	A	28660984	3	1	451	1	0	0	0	0	1	0	0	0	9505	1290	45	2	136	2	MED18	1	28660984	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7588896	28660984	220589637	8	88066											
ELTD1	64123	broad.mit.edu	37	chr1	79470781	79470781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattgtgacaccatttcctGaaaatcccatgttgcaatag	14	12	6	9	0	0	2	0	2	0	0	2	2	2	2	3	0	1	2	3	0	5	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:79470781G>A	ENST00000370742.3	-	2	209	c.146C>T	c.(145-147)tCa>tTa	p.S49L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	49	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		ACCATTTCCTGAAAATCCCAT	0.378													12	86					0	0	0	0	A	79470781	G	A	79470781	3	1	451	1	0	0	0	0	1	0	0	0	5122	1294	45	2	1982	2	ELTD1	1	79470781	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	50809797	79470781	169779840	9	88067											
SSX2IP	117178	broad.mit.edu	37	chr1	85128181	85128181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggagcctctttttccatCagctctcccgacataattca	9	12	5	15	1	4	0	2	0	2	0	6	2	5	1	4	1	2	1	4	1	1	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:85128181C>T	ENST00000437941.2	-	6	977	c.625G>A	c.(625-627)Gat>Aat	p.D209N	SSX2IP_ENST00000370612.4_Missense_Mutation_p.D236N|SSX2IP_ENST00000605755.1_Missense_Mutation_p.D209N|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.D236N	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	236					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTTTTCCATCAGCTCTCCCG	0.358													9	71					0	0	0	0	T	85128181	C	T	85128181	3	4	451	1	0	0	0	0	1	0	0	0	15294	826	29	2	1170	2	SSX2IP	1	85128181	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5657400	85128181	164122440	10	88068											
COL24A1	255631	broad.mit.edu	37	chr1	86591748	86591748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattttcacgaaaggtgtctCgatataagcatcatttttaa	14	15	6	6	2	3	0	2	0	1	0	4	2	3	0	0	1	1	1	0	1	5	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:86591748C>T	ENST00000370571.2	-	3	637	c.271G>A	c.(271-273)Gag>Aag	p.E91K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E91K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	91	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAAGGTGTCTCGATATAAGCA	0.428													9	71					0	0	0	0	T	86591748	C	T	86591748	3	4	451	1	0	0	0	0	1	0	0	0	3713	893	31	1	5105	1	COL24A1	1	86591748	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1463567	86591748	162658873	11	88069											
ABCD3	5825	broad.mit.edu	37	chr1	94955491	94955491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacaagtcattcccttgataCctggtgctggagaaatcatt	11	13	8	9	0	2	2	2	1	0	1	3	3	3	2	2	2	3	1	2	2	4	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:94955491C>A	ENST00000370214.4	+	15	1306	c.1282C>A	c.(1282-1284)Cct>Act	p.P428T	ABCD3_ENST00000454898.2_Missense_Mutation_p.P452T|ABCD3_ENST00000394233.2_Missense_Mutation_p.P318T|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.P355T	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	428					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCCCTTGATACCTGGTGCTGG	0.318													16	69					0.000566183	0.0005754	1	0	A	94955491	C	A	94955491	3	1	451	1	0	0	0	0	1	0	0	0	62	507	18	4	1371	4	ABCD3	1	94955491	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	8363743	94955491	154295130	12	88070											
SPAG17	200162	broad.mit.edu	37	chr1	118642244	118642244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataccttctgactgaagaaGaacttcctgctgctggttaa	11	12	8	10	0	1	4	0	2	1	2	2	4	2	4	2	1	4	3	2	1	5	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:118642244G>A	ENST00000336338.5	-	6	879	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	272						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACTGAAGAAGAACTTCCTGC	0.403													25	199					0	0	0	0	A	118642244	G	A	118642244	3	1	451	1	0	0	0	0	1	0	0	0	15069	942	33	2	6029	2	SPAG17	1	118642244	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	23686753	118642244	130608377	13	88071											
PDE4DIP	9659	broad.mit.edu	37	chr1	144871748	144871748	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgagcctcagccaaGgagaccactggtgtctcaca	9	8	10	14	0	2	2	2	1	1	1	4	3	3	2	4	2	3	1	4	2	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:144871748G>T	ENST00000369359.4	-	35	5660	c.5622C>A	c.(5620-5622)tcC>tcA	p.S1874S	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.S1823S|PDE4DIP_ENST00000369354.3_Silent_p.S1738S|PDE4DIP_ENST00000369356.4_Silent_p.S1738S|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1738					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCAGCCAAGGAGACCACTG	0.582			T	PDGFRB	MPD								9	166					0.00829132	0.00834863	1	0	T	144871748	G	T	144871748	2	4	451	1	0	0	0	0	0	0	0	1	11714	987	35	4		4	PDE4DIP	1	144871748	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	26229504	144871748	104378873	14	88072											
POGZ	23126	broad.mit.edu	37	chr1	151377434	151377434	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactcagaatgttccccactCagcttcagttgctcctctag	8	12	7	14	0	4	1	3	0	1	1	6	2	6	1	3	0	2	4	3	0	2	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:151377434C>G	ENST00000271715.2	-	19	4391	c.4077G>C	c.(4075-4077)ctG>ctC	p.L1359L	POGZ_ENST00000409503.1_Silent_p.L1350L|POGZ_ENST00000392723.1_Silent_p.L1306L|POGZ_ENST00000368863.2_Silent_p.L1264L|POGZ_ENST00000540984.1_Silent_p.L721L|POGZ_ENST00000361398.3_Silent_p.L1306L|POGZ_ENST00000531094.1_Silent_p.L1297L|POGZ_ENST00000491586.1_Silent_p.L1315L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1359					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			GTTCCCCACTCAGCTTCAGTT	0.502											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	115					0	0	0	0	G	151377434	C	G	151377434	2	3	451	1	0	0	0	0	0	0	0	1	12258	813	29	2		2	POGZ	1	151377434	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	6505686	151377434	97873187	15	88073											
AQP10	89872	broad.mit.edu	37	chr1	154293656	154293656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcactcaggccccggctGaaatcatgggccacctccgg	7	8	10	16	2	4	1	3	1	1	0	5	1	5	1	5	4	0	1	5	4	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:154293656G>A	ENST00000484864.1	+	1	61	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	AQP10_ENST00000324978.3_Missense_Mutation_p.E9K|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	9					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCCCCGGCTGAAATCATGGG	0.577													19	77					0	0	0	0	A	154293656	G	A	154293656	3	1	451	1	0	0	0	0	1	0	0	0	824	1291	45	2	27	2	AQP10	1	154293656	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2916222	154293656	94956965	16	88074											
SHC1	6464	broad.mit.edu	37	chr1	154942846	154942846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacagggtagtgggactatCgtccccaggcagaggaggca	10	5	16	10	1	0	1	0	0	0	1	2	3	1	3	2	5	0	4	2	5	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:154942846C>T	ENST00000448116.2	-	1	377	c.157G>A	c.(157-159)Gat>Aat	p.D53N	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.D53N|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	53					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGGGACTATCGTCCCCAGGC	0.672													9	64					0	0	0	0	T	154942846	C	T	154942846	3	4	451	1	0	0	0	0	1	0	0	0	14358	884	31	1	1645	1	SHC1	1	154942846	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	649190	154942846	94307775	17	88075											
EFNA3	1944	broad.mit.edu	37	chr1	155058671	155058671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggccccaatgtgaagatCaacgtgctgggtgagtctgc	9	9	14	9	1	2	3	1	2	1	1	2	3	2	3	2	2	3	1	2	2	3	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:155058671C>T	ENST00000368408.3	+	4	646	c.576C>T	c.(574-576)atC>atT	p.I192I	EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000556931.1_Silent_p.I187I|EFNA3_ENST00000505139.1_Silent_p.I187I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	192					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATGTGAAGATCAACGTGCTGG	0.697											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	37					0	0	0	0	T	155058671	C	T	155058671	2	4	451	1	0	0	0	0	0	0	0	1	4988	816	29	2		2	EFNA3	1	155058671	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	115825	155058671	94191950	18	88076											
NES	10763	broad.mit.edu	37	chr1	156641510	156641510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagtgattctaggatctCtgtttctaaagattttactg	9	18	7	7	0	4	2	1	1	3	1	5	3	4	3	0	1	1	1	0	1	4	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156641510C>T	ENST00000368223.3	-	4	2602	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	824	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTAGGATCTCTGTTTCTAAA	0.413													7	58					0	0	0	0	T	156641510	C	T	156641510	3	4	451	1	0	0	0	0	1	0	0	0	10407	922	32	2	2399	2	NES	1	156641510	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1582839	156641510	92609111	19	88077											
NES	10763	broad.mit.edu	37	chr1	156642171	156642171	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctctttttctagaggtctCactacctccacatcctttaa	8	15	4	14	0	3	1	1	0	3	1	6	1	5	1	4	1	1	0	4	1	3	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156642171C>G	ENST00000368223.3	-	4	1941	c.1809G>C	c.(1807-1809)gtG>gtC	p.V603V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	603	Tail.			ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTAGAGGTCTCACTACCTCCA	0.398													7	69					0	0	0	0	G	156642171	C	G	156642171	2	3	451	1	0	0	0	0	0	0	0	1	10407	813	29	2		2	NES	1	156642171	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	661	156642171	92608450	20	88078											
INSRR	3645	broad.mit.edu	37	chr1	156821767	156821767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaggcacggccgggcacaGagtgcaggctggcacagcgc	8	3	18	12	3	0	1	0	0	0	1	0	2	0	2	1	6	2	5	1	6	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156821767G>A	ENST00000368195.3	-	3	1250	c.854C>T	c.(853-855)tCt>tTt	p.S285F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	285					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCGGGCACAGAGTGCAGGCT	0.642													7	36					0	0	0	0	A	156821767	G	A	156821767	3	1	451	1	0	0	0	0	1	0	0	0	7827	942	33	2	3118	2	INSRR	1	156821767	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	179596	156821767	92428854	21	88079											
FCRL4	83417	broad.mit.edu	37	chr1	157559097	157559097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtgtttcctggggtcagGgtcaacttttctccccagta	6	13	12	10	0	3	0	2	0	1	0	5	0	4	0	3	4	1	2	3	4	2	4	rs150552645	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:157559097G>A	ENST00000271532.1	-	3	339	c.204C>T	c.(202-204)acC>acT	p.T68T		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	68	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTGGGGTCAGGGTCAACTTTT	0.512													11	71					0	0	0	0	A	157559097	G	A	157559097	2	1	451	1	0	0	0	0	0	0	0	1	5842	1219	43	4		4	FCRL4	1	157559097	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	737330	157559097	91691524	22	88080											
POU2F1	5451	broad.mit.edu	37	chr1	167358976	167358976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagaccttcaaacaaagacGaatcaaacttggattcactc	17	8	5	11	1	3	2	3	0	0	2	4	4	3	3	1	1	2	0	1	1	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:167358976G>A	ENST00000367862.5	+	9	1167	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R259Q|POU2F1_ENST00000420254.3_Missense_Mutation_p.R299Q|POU2F1_ENST00000541643.3_Missense_Mutation_p.R299Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.R322Q|POU2F1_ENST00000452019.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	299	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AAACAAAGACGAATCAAACTT	0.483													5	24					0	0	0	0	A	167358976	G	A	167358976	3	1	451	1	0	0	0	0	1	0	0	0	12342	1058	37	1	926	1	POU2F1	1	167358976	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9799879	167358976	81891645	23	88081											
XPR1	9213	broad.mit.edu	37	chr1	180794073	180794073	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgtctcatcaacatctCtttgaggtaatcaaagcaag	14	13	6	8	0	4	1	3	1	2	0	6	1	4	1	0	1	2	2	0	1	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:180794073C>G	ENST00000367590.4	+	8	1146	c.948C>G	c.(946-948)ctC>ctG	p.L316L	XPR1_ENST00000367589.3_Silent_p.L316L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	316						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATCAACATCTCTTTGAGGTAA	0.388													6	37					0	0	0	0	G	180794073	C	G	180794073	2	3	451	1	0	0	0	0	0	0	0	1	17547	900	32	2		2	XPR1	1	180794073	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	13435097	180794073	68456548	24	88082											
MYBPH	4608	broad.mit.edu	37	chr1	203144534	203144534	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggctcccagctcacagtCacagagctgctgctcacatc	8	7	11	15	0	3	1	3	0	0	1	5	1	4	1	1	2	4	5	1	2	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:203144534C>G	ENST00000255416.4	-	2	318	c.261G>C	c.(259-261)gtG>gtC	p.V87V		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	87	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		AGCTCACAGTCACAGAGCTGC	0.627													17	131					0	0	0	0	G	203144534	C	G	203144534	2	3	451	1	0	0	0	0	0	0	0	1	10084	813	29	2		2	MYBPH	1	203144534	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	22350461	203144534	46106087	25	88083											
G0S2	50486	broad.mit.edu	37	chr1	209849179	209849179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagactgtgtgcagccccttCacggccgccagacgtctgcg	6	7	13	15	4	2	2	1	0	1	2	2	3	2	2	4	1	3	1	4	1	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:209849179C>T	ENST00000367029.4	+	2	312	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1switch 2	50					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		GCAGCCCCTTCACGGCCGCCA	0.667													5	15					0	0	0	0	T	209849179	C	T	209849179	2	4	451	1	0	0	0	0	0	0	0	1	6187	825	29	2		2	G0S2	1	209849179	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	6704645	209849179	39401442	26	88084											
INTS7	25896	broad.mit.edu	37	chr1	212154494	212154494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaaagtaccagtagggattCcaggccaaagacagcatctt	15	7	9	10	0	1	1	0	0	1	1	2	2	2	2	3	2	2	3	3	2	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:212154494C>T	ENST00000366994.3	-	10	1275	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	INTS7_ENST00000366993.3_Missense_Mutation_p.E391K|INTS7_ENST00000440600.2_Missense_Mutation_p.E342K|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.E391K	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	391					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		AGTAGGGATTCCAGGCCAAAG	0.363													8	61					0	0	0	0	T	212154494	C	T	212154494	3	4	451	1	0	0	0	0	1	0	0	0	7836	864	30	2	1761	2	INTS7	1	212154494	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2305315	212154494	37096127	27	88085											
PTPN14	5784	broad.mit.edu	37	chr1	214543025	214543025	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcggtggcttttggttcGtccaccctcctaaatcacat	7	14	8	12	2	1	0	1	0	0	0	5	0	3	0	3	3	0	3	3	3	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:214543025G>A	ENST00000366956.5	-	17	3240	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1016	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			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)		CTTTTGGTTCGTCCACCCTCC	0.428													38	198					0	0	0	0	A	214543025	G	A	214543025	4	1	451	1	0	0	0	0	0	1	0	0	12863	1153	40	1	529	1	PTPN14	1	214543025	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2388531	214543025	34707596	28	88086											
USH2A	7399	broad.mit.edu	37	chr1	215963552	215963552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttttaatatgtgctttaGactctccactggaagctgag	9	16	8	8	0	2	2	0	1	2	1	3	3	2	3	1	1	2	2	1	1	4	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:215963552G>C	ENST00000366943.2	-	51	10417	c.10031C>G	c.(10030-10032)tCt>tGt	p.S3344C	USH2A_ENST00000307340.3_Missense_Mutation_p.S3344C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3344					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGTGCTTTAGACTCTCCACT	0.378										HNSCC(13;0.011)			19	86					0	0	0	0	C	215963552	G	C	215963552	3	2	451	1	0	0	0	0	1	0	0	0	17132	942	33	2	5665	2	USH2A	1	215963552	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1420527	215963552	33287069	29	88087											
RAB4A	5867	broad.mit.edu	37	chr1	229438699	229438699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcggcgcgcacaggcccCgaacgctcaggagtgtggtt	7	5	15	14	6	1	0	1	0	0	0	1	2	1	1	3	4	1	3	3	4	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:229438699C>T	ENST00000366690.4	+	7	840	c.632C>T	c.(631-633)cCg>cTg	p.P211L	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	206							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GCACAGGCCCCGAACGCTCAG	0.582													12	128					0	0	0	0	T	229438699	C	T	229438699	3	4	451	1	0	0	0	0	1	0	0	0	13028	652	23	1	658	1	RAB4A	1	229438699	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	13475147	229438699	19811922	30	88088											
ACTN2	88	broad.mit.edu	37	chr1	236920804	236920804	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcacattcgtgttggatggGagctgctgctgacaaccatc	9	10	12	10	1	0	1	0	1	0	0	2	3	0	3	1	2	5	5	1	2	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:236920804G>C	ENST00000366578.4	+	18	2339	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q	ACTN2_ENST00000542672.1_Missense_Mutation_p.E725Q|ACTN2_ENST00000546208.1_Missense_Mutation_p.E219Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	725					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTTGGATGGGAGCTGCTGCT	0.488													14	71					0	0	0	0	C	236920804	G	C	236920804	3	2	451	1	0	0	0	0	1	0	0	0	205	1175	41	2	2243	2	ACTN2	1	236920804	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7482105	236920804	12329817	31	88089											
OR2M5	127059	broad.mit.edu	37	chr1	248309153	248309153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatctggagagggtcgtcGcaaagcttttactacctgtt	8	12	13	8	2	1	1	0	0	1	1	3	3	1	2	1	3	3	3	1	3	3	4	rs145157861	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:248309153G>A	ENST00000366476.1	+	1	704	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAGGGTCGTCGCAAAGCTTTT	0.468													5	309					0	0	0	0	A	248309153	G	A	248309153	3	1	451	1	0	0	0	0	1	0	0	0	11084	1087	38	1	706	1	OR2M5	1	248309153	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	11388349	248309153	941468	32	88090											
MSGN1	343930	broad.mit.edu	37	chr2	17997819	17997819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagactttcctcagcctcGaggatggcttgggctcctct	5	11	12	13	2	2	1	1	0	1	1	5	4	4	2	3	3	1	2	3	3	0	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:17997819G>A	ENST00000281047.3	+	1	57	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	12					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCAGCCTCGAGGATGGCTT	0.607													5	46					0	0	0	0	A	17997819	G	A	17997819	3	1	451	1	0	0	0	0	1	0	0	0	9939	1059	37	1	36	1	MSGN1	2	17997819	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		17997819	225201554	33	88091											
ASXL2	55252	broad.mit.edu	37	chr2	25982412	25982412	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaatctccaggaaggactGaaaatgtgtgcttgttgatc	11	11	12	7	0	1	2	0	2	1	0	3	4	1	4	1	3	1	3	1	3	4	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:25982412G>C	ENST00000435504.4	-	9	1171	c.878C>G	c.(877-879)tCa>tGa	p.S293*	ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S265*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S33*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S33*			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGGACTGAAAATGTGTG	0.423													22	131					0	0	0	0	C	25982412	G	C	25982412	4	2	451	1	0	0	0	0	0	1	0	0	1071	1294	45	2	3449	2	ASXL2	2	25982412	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7984593	25982412	217216961	34	88092											
HADHA	3030	broad.mit.edu	37	chr2	26427038	26427038	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcgatgcctgctcccatCagccctgcaccaagaatagc	9	7	10	15	1	1	1	1	0	0	1	2	2	2	1	4	1	5	2	4	1	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:26427038C>G	ENST00000380649.3	-	12	1242	c.1113G>C	c.(1111-1113)ctG>ctC	p.L371L		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	371					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CTGCTCCCATCAGCCCTGCAC	0.483													21	332					0	0	0	0	G	26427038	C	G	26427038	2	3	451	1	0	0	0	0	0	0	0	1	6993	813	29	2		2	HADHA	2	26427038	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	444626	26427038	216772335	35	88093											
ZNF513	130557	broad.mit.edu	37	chr2	27601662	27601662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcgagtagtgggacacGaaggtgcagaggcggcatga	10	6	18	7	3	0	2	0	1	0	1	1	5	0	3	0	5	1	4	0	5	2	1	rs149911850		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27601662G>T	ENST00000323703.6	-	3	669	c.471C>A	c.(469-471)ttC>ttA	p.F157L	ZNF513_ENST00000407879.1_Missense_Mutation_p.F95L|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	157					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGACACGAAGGTGCAGA	0.697													8	36					1.12685e-05	1.15595e-05	1	0	T	27601662	G	T	27601662	3	4	451	1	0	0	0	0	1	0	0	0	18053	1049	37	3	1162	3	ZNF513	2	27601662	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1174624	27601662	215597711	36	88094											
C2orf16	84226	broad.mit.edu	37	chr2	27799764	27799764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaaatatggggagcaaactCcaagaacaaattatcaaatc	19	8	7	7	0	1	2	1	1	0	1	3	3	2	3	1	2	3	1	1	2	8	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27799764C>G	ENST00000408964.2	+	1	376	c.325C>G	c.(325-327)Cca>Gca	p.P109A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	109										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGAGCAAACTCCAAGAACAAA	0.408													10	79					0	0	0	0	G	27799764	C	G	27799764	3	3	451	1	0	0	0	0	1	0	0	0	2177	855	30	2	327	2	C2orf16	2	27799764	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	198102	27799764	215399609	37	88095											
C2orf16	84226	broad.mit.edu	37	chr2	27799876	27799876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtatcaaatccctaaatCtgcaaatttgatttcaatac	17	13	3	8	0	3	1	2	1	1	0	4	1	4	1	1	0	2	2	1	0	8	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27799876C>A	ENST00000408964.2	+	1	488	c.437C>A	c.(436-438)tCt>tAt	p.S146Y		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	146										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCCCTAAATCTGCAAATTTG	0.383													11	93					1.58986e-06	1.63475e-06	1	0	A	27799876	C	A	27799876	3	1	451	1	0	0	0	0	1	0	0	0	2177	913	32	2	439	2	C2orf16	2	27799876	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	112	27799876	215399497	38	88096											
BIRC6	57448	broad.mit.edu	37	chr2	32750671	32750671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattactgtcccagtgtttCacctgtttcacaaactcttg	9	16	5	11	0	3	0	2	0	1	0	4	0	4	0	2	0	2	2	2	0	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:32750671C>T	ENST00000421745.2	+	59	12030	c.11896C>T	c.(11896-11898)Cac>Tac	p.H3966Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3966					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)					CCCAGTGTTTCACCTGTTTCA	0.423													11	44					0	0	0	0	T	32750671	C	T	32750671	3	4	451	1	0	0	0	0	1	0	0	0	1443	826	29	2	12130	2	BIRC6	2	32750671	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	4950795	32750671	210448702	39	88097											
MSH2	4436	broad.mit.edu	37	chr2	47637291	47637291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttggtaacaatgatatgtCagcttccattggtgttgtgg	8	16	11	6	0	1	1	1	1	0	0	2	1	2	1	1	3	2	3	1	3	3	6	rs63750910		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:47637291C>T	ENST00000406134.1	+	3	487	c.425C>T	c.(424-426)tCa>tTa	p.S142L	MSH2_ENST00000233146.2_Missense_Mutation_p.S142L|MSH2_ENST00000543555.1_Missense_Mutation_p.S76L			P43246	MSH2_HUMAN	mutS homolog 2	142					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			aatgatatgTCAGCTTCCATT	0.388			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				55	374					0	0	0	0	T	47637291	C	T	47637291	3	4	451	1	0	0	0	0	1	0	0	0	9940	838	29	2	435	2	MSH2	2	47637291	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	14886620	47637291	195562082	40	88098											
TET3	200424	broad.mit.edu	37	chr2	74274965	74274965	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcctcccaggaagtgCaggctcatccaccggcccct	7	5	9	20	1	1	0	1	0	0	0	3	1	3	1	8	3	2	2	8	3	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:74274965C>T	ENST00000409262.3	+	1	1516	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	506							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGAAGTGCAGGCTCATCC	0.627													4	22					0	0	0	0	T	74274965	C	T	74274965	4	4	451	1	0	0	0	0	0	1	0	0	15865	711	25	4	1518	4	TET3	2	74274965	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	26637674	74274965	168924408	41	88099											
RETSAT	54884	broad.mit.edu	37	chr2	85577207	85577207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtactgcctggagctcagagGaggcccccagctgctgcagg	7	6	15	13	0	1	1	1	0	0	1	1	3	1	3	3	4	6	5	3	4	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:85577207G>C	ENST00000295802.4	-	4	867	c.755C>G	c.(754-756)tCc>tGc	p.S252C	RETSAT_ENST00000457495.2_Missense_Mutation_p.S191C|RETSAT_ENST00000263854.6_Missense_Mutation_p.S252C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	252					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GAGCTCAGAGGAGGCCCCCAG	0.617													12	81					0	0	0	0	C	85577207	G	C	85577207	3	2	451	1	0	0	0	0	1	0	0	0	13320	1174	41	2	1109	2	RETSAT	2	85577207	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	11302242	85577207	157622166	42	88100											
REEP1	65055	broad.mit.edu	37	chr2	86491153	86491153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaatataatccagtacatCatccatttgacctgttgaaa	15	12	5	9	0	1	2	1	2	0	0	3	2	3	2	3	0	1	3	3	0	5	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:86491153C>T	ENST00000165698.5	-	3	260	c.117G>A	c.(115-117)atG>atA	p.M39I	REEP1_ENST00000541910.1_Missense_Mutation_p.M39I|REEP1_ENST00000540790.1_Missense_Mutation_p.M18I|REEP1_ENST00000538924.1_Missense_Mutation_p.M46I|REEP1_ENST00000535845.1_Missense_Mutation_p.M12I|REEP1_ENST00000473407.1_5'UTR	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	39					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAGTACATCATCCATTTGA	0.458													13	101					0	0	0	0	T	86491153	C	T	86491153	3	4	451	1	0	0	0	0	1	0	0	0	13286	826	29	2	569	2	REEP1	2	86491153	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	913946	86491153	156708220	43	88101											
LYG2	254773	broad.mit.edu	37	chr2	99858883	99858883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgatatcattgacgaagtCattgtctatgtccgatgggg	11	13	11	6	2	3	2	2	2	1	0	4	4	4	2	1	2	0	0	1	2	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:99858883C>T	ENST00000333017.2	-	6	695	c.583G>A	c.(583-585)Gac>Aac	p.D195N	LYG2_ENST00000409238.1_Missense_Mutation_p.D195N	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN	lysozyme G-like 2	195					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TTGACGAAGTCATTGTCTATG	0.443													13	163					0	0	0	0	T	99858883	C	T	99858883	3	4	451	1	0	0	0	0	1	0	0	0	9170	826	29	2	59	2	LYG2	2	99858883	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	13367730	99858883	143340490	44	88102											
RANBP2	5903	broad.mit.edu	37	chr2	109383857	109383857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaagttgaatcagagtGggacttcagttggcactgat	10	11	12	8	0	2	3	2	2	0	1	2	4	2	4	1	2	1	3	1	2	2	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:109383857G>A	ENST00000283195.6	+	20	6988	c.6862G>A	c.(6862-6864)Ggg>Agg	p.G2288R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2288					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAATCAGAGTGGGACTTCAGT	0.388													27	214					0	0	0	0	A	109383857	G	A	109383857	3	1	451	1	0	0	0	0	1	0	0	0	13110	1348	47	4	6940	4	RANBP2	2	109383857	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9524974	109383857	133815516	45	88103											
PSD4	23550	broad.mit.edu	37	chr2	113951501	113951501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgggctgagggatggcggGaacttccccaaggagctgct	9	7	16	9	1	0	1	0	1	0	0	1	4	1	4	2	5	3	3	2	5	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:113951501G>A	ENST00000245796.6	+	10	2352	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	PSD4_ENST00000441564.2_Silent_p.G691G	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	719	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGATGGCGGGAACTTCCCCA	0.537													10	86					0	0	0	0	A	113951501	G	A	113951501	2	1	451	1	0	0	0	0	0	0	0	1	12728	1161	41	2		2	PSD4	2	113951501	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4567644	113951501	129247872	46	88104											
NCKAP5	344148	broad.mit.edu	37	chr2	133539648	133539648	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctttgtaaaccgccaTctggattatctgctgacttg	7	17	8	9	1	2	1	0	1	2	0	2	2	2	2	2	1	3	3	2	1	3	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:133539648T>C	ENST00000409261.1	-	14	5109	c.4736A>G	c.(4735-4737)gAt>gGt	p.D1579G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1579G|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1579							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAAACCGCCATCTGGATTATC	0.388													13	93					0	0	0	0	C	133539648	T	C	133539648	3	2	451	1	0	0	0	0	1	0	0	0	10293	1435	50	5	1021	5	NCKAP5	2	133539648	Missense_Mutation	SNP	T	TCGA-MT-A67F-01A-11D-A30E-08	19588147	133539648	109659725	47	88105											
WDSUB1	151525	broad.mit.edu	37	chr2	160136314	160136314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgcagcaggtaattccaaGatcatgtgctttttcactat	11	14	7	9	1	2	1	2	0	0	1	4	1	3	1	1	1	2	4	1	1	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:160136314G>C	ENST00000409990.3	-	3	797	c.541C>G	c.(541-543)Ctt>Gtt	p.L181V	WDSUB1_ENST00000392796.3_Missense_Mutation_p.L181V|WDSUB1_ENST00000409124.1_Missense_Mutation_p.L181V|WDSUB1_ENST00000358147.4_Missense_Mutation_p.L181V|WDSUB1_ENST00000359774.4_Missense_Mutation_p.L181V	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	181						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTAATTCCAAGATCATGTGCT	0.378													10	62					0	0	0	0	C	160136314	G	C	160136314	3	2	451	1	0	0	0	0	1	0	0	0	17437	942	33	2	925	2	WDSUB1	2	160136314	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	26596666	160136314	83063059	48	88106											
GALNT3	2591	broad.mit.edu	37	chr2	166626751	166626751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaatcctgtcacttgCgaaagcattaaagcagtgtt	15	10	8	8	1	1	1	1	0	0	1	2	2	2	1	1	0	3	3	1	0	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:166626751C>T	ENST00000392701.3	-	2	1235	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	154					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTGTCACTTGCGAAAGCATTA	0.408													4	94					0	0	0	0	T	166626751	C	T	166626751	3	4	451	1	0	0	0	0	1	0	0	0	6263	768	27	1	1481	1	GALNT3	2	166626751	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	6490437	166626751	76572622	49	88107											
SCN7A	6332	broad.mit.edu	37	chr2	167262275	167262275	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaactgcctcttgttttcGtttcaaagtagtcgtaattg	9	17	8	7	2	2	1	1	1	1	0	4	1	2	1	1	0	2	4	1	0	4	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:167262275G>A	ENST00000409855.1	-	25	4990	c.4864C>T	c.(4864-4866)Cga>Tga	p.R1622*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1622					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCTTGTTTTCGTTTCAAAGTA	0.363													5	192					0	0	0	0	A	167262275	G	A	167262275	4	1	451	1	0	0	0	0	0	1	0	0	14010	1153	40	1	188	1	SCN7A	2	167262275	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	635524	167262275	75937098	50	88108											
BBS5	129880	broad.mit.edu	37	chr2	170344504	170344504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtccttacagaaattacGaggccaaactgaagctctct	12	12	7	10	1	1	2	0	1	1	1	3	3	2	2	2	1	4	1	2	1	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:170344504G>A	ENST00000295240.3	+	5	642	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	BBS5_ENST00000392663.2_Missense_Mutation_p.R89Q|BBS5_ENST00000554017.1_Missense_Mutation_p.R89Q|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R89Q	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5									p.R89Q(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGAAATTACGAGGCCAAACT	0.294									Bardet-Biedl syndrome				13	133					0	0	0	0	A	170344504	G	A	170344504	3	1	451	1	0	0	0	0	1	0	0	0	1344	1058	37	1	284	1	BBS5	2	170344504	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3082229	170344504	72854869	51	88109											
TTN	7273	broad.mit.edu	37	chr2	179584137	179584137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccaggatggcattcaCgtctttcagcttgcggatga	7	10	12	12	2	3	1	2	1	1	0	3	3	3	3	2	4	2	2	2	4	0	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:179584137C>T	ENST00000589042.1	-	83	24204	c.23980G>A	c.(23980-23982)Gtg>Atg	p.V7994M	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7677M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6750M|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7677	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGCATTCACGTCTTTCAGC	0.502													11	140					0	0	0	0	T	179584137	C	T	179584137	3	4	451	1	0	0	0	0	1	0	0	0	16831	536	19	1	80669	1	TTN	2	179584137	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	9239633	179584137	63615236	52	88110											
CASP8	841	broad.mit.edu	37	chr2	202141586	202141586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaaatgaaaagcaaacctCggggatactgtctgatcatc	15	8	8	10	1	2	2	1	2	1	0	4	3	2	3	2	2	3	1	2	2	5	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202141586C>T	ENST00000358485.4	+	7	1070	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000432109.2_Missense_Mutation_p.R233W|CASP8_ENST00000264274.9_Intron	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGCAAACCTCGGGGATACTG	0.428										HNSCC(4;0.00038)			12	63					0	0	0	0	T	202141586	C	T	202141586	3	4	451	1	0	0	0	0	1	0	0	0	2702	893	31	1	1000	1	CASP8	2	202141586	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	22557449	202141586	41057787	53	88111											
CASP8	841	broad.mit.edu	37	chr2	202149679	202149679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttcatctgctgtatcCtctcccatggagacaagggc	8	11	9	13	0	3	1	1	0	2	1	5	2	4	1	2	2	2	3	2	2	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202149679C>G	ENST00000358485.4	+	8	1316	c.1120C>G	c.(1120-1122)Ctc>Gtc	p.L374V	CASP8_ENST00000264275.5_Missense_Mutation_p.L332V|CASP8_ENST00000323492.7_Missense_Mutation_p.L300V|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.L315V|CASP8_ENST00000264274.9_Missense_Mutation_p.L231V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	315					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTGTATCCTCTCCCATGG	0.488										HNSCC(4;0.00038)			20	153					0	0	0	0	G	202149679	C	G	202149679	3	3	451	1	0	0	0	0	1	0	0	0	2702	681	24	4	1250	4	CASP8	2	202149679	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	8093	202149679	41049694	54	88112											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483821	202483821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcggttatcaagtgtgctGaaaggcctatttgtctcttg	7	15	11	8	1	2	1	1	1	1	0	3	1	2	1	1	2	2	2	1	2	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202483821G>A	ENST00000439140.1	-	1	77	c.33C>T	c.(31-33)ttC>ttT	p.F11F	ALS2CR11_ENST00000286195.3_Silent_p.F11F|ALS2CR11_ENST00000450242.1_Silent_p.F11F|ALS2CR11_ENST00000439802.1_Silent_p.F11F	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	11										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAAGTGTGCTGAAAGGCCTAT	0.612													7	112					0	0	0	0	A	202483821	G	A	202483821	2	1	451	1	0	0	0	0	0	0	0	1	552	1281	45	2		2	ALS2CR11	2	202483821	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	334142	202483821	40715552	55	88113											
C2orf80	389073	broad.mit.edu	37	chr2	209036779	209036779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggggtgcaaggagaggcaGagagatgaaactcggggaac	15	3	18	5	1	0	4	0	1	0	3	1	7	0	5	0	6	3	2	0	6	4	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:209036779G>A	ENST00000341287.4	-	7	582	c.387C>T	c.(385-387)ctC>ctT	p.L129L	C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Silent_p.L110L	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	129										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						AGGAGAGGCAGAGAGATGAAA	0.488													41	224					0	0	0	0	A	209036779	G	A	209036779	2	1	451	1	0	0	0	0	0	0	0	1	2217	929	33	2		2	C2orf80	2	209036779	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	6552958	209036779	34162594	56	88114											
IDH1	3417	broad.mit.edu	37	chr2	209108191	209108191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtctttaaaacgcccatCatatttcttcagaatagtgt	12	15	6	8	1	4	1	2	0	2	1	4	2	4	1	1	0	1	0	1	0	5	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:209108191C>T	ENST00000415913.1	-	6	1039	c.658G>A	c.(658-660)Gat>Aat	p.D220N	IDH1_ENST00000345146.2_Missense_Mutation_p.D220N|IDH1_ENST00000446179.1_Missense_Mutation_p.D220N			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	220					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		AAACGCCCATCATATTTCTTC	0.338			Mis		gliobastoma								11	82					0	0	0	0	T	209108191	C	T	209108191	3	4	451	1	0	0	0	0	1	0	0	0	7547	826	29	2	606	2	IDH1	2	209108191	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	71412	209108191	34091182	57	88115											
CPS1	1373	broad.mit.edu	37	chr2	211473236	211473236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgggatcttgaccgttttCatggaacatctagccgaatt	9	13	10	9	2	3	1	1	1	2	0	3	4	3	3	2	2	2	2	2	2	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:211473236C>T	ENST00000233072.5	+	19	2540	c.2344C>T	c.(2344-2346)Cat>Tat	p.H782Y	CPS1_ENST00000430249.2_Missense_Mutation_p.H788Y|CPS1_ENST00000451903.2_Missense_Mutation_p.H331Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	782					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			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)		TGACCGTTTTCATGGAACATC	0.423													19	97					0	0	0	0	T	211473236	C	T	211473236	3	4	451	1	0	0	0	0	1	0	0	0	3853	826	29	2	2440	2	CPS1	2	211473236	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2365045	211473236	31726137	58	88116											
IKZF2	22807	broad.mit.edu	37	chr2	213921665	213921665	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggattcctccctcgccttGaagctcctggactttcctgt	4	13	8	16	2	0	1	0	1	0	0	5	3	4	3	6	2	1	1	6	2	1	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:213921665G>A	ENST00000457361.1	-	4	466	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	IKZF2_ENST00000374319.4_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000413091.3_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.Q106*|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.Q100*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCCTCGCCTTGAAGCTCCTGG	0.517													17	71					0	0	0	0	A	213921665	G	A	213921665	4	1	451	1	0	0	0	0	0	1	0	0	7668	1299	45	2	1302	2	IKZF2	2	213921665	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2448429	213921665	29277708	59	88117											
ZNF142	7701	broad.mit.edu	37	chr2	219507517	219507517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accggtgcaagcgcagtttcGagttggtaccaaacgtctgg	9	9	13	10	4	1	0	0	0	1	0	2	1	1	0	2	3	4	5	2	3	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:219507517G>A	ENST00000411696.2	-	7	4501	c.3722C>T	c.(3721-3723)tCg>tTg	p.S1241L	ZNF142_ENST00000449707.1_Missense_Mutation_p.S1241L			P52746	ZN142_HUMAN	zinc finger protein 142	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1078L(1)|p.S1241L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGCAGTTTCGAGTTGGTACC	0.552													5	233					0	0	0	0	A	219507517	G	A	219507517	3	1	451	1	0	0	0	0	1	0	0	0	17826	1059	37	1	1353	1	ZNF142	2	219507517	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5585852	219507517	23691856	60	88118											
SERPINE2	5270	broad.mit.edu	37	chr2	224856626	224856626	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgggttggaaccgtgatttCcacagacccttgaaatacac	11	10	9	11	2	0	3	0	2	0	1	2	4	1	4	3	2	2	1	3	2	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:224856626C>T	ENST00000409840.3	-	5	1239	c.579G>A	c.(577-579)tgG>tgA	p.W193*	SERPINE2_ENST00000258405.4_Nonsense_Mutation_p.W193*|SERPINE2_ENST00000409304.1_Nonsense_Mutation_p.W193*|SERPINE2_ENST00000447280.2_Nonsense_Mutation_p.W205*			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	193					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACCGTGATTTCCACAGACCCT	0.512													9	60					0	0	0	0	T	224856626	C	T	224856626	4	4	451	1	0	0	0	0	0	1	0	0	14199	856	30	2	641	2	SERPINE2	2	224856626	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5349109	224856626	18342747	61	88119											
TRIP12	9320	broad.mit.edu	37	chr2	230672975	230672975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaatctttaccaaatcaGagatgtcagttcatacaact	14	11	5	11	0	4	1	3	0	1	1	4	2	4	1	2	0	3	1	2	0	5	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:230672975G>A	ENST00000283943.5	-	15	2366	c.2188C>T	c.(2188-2190)Ctg>Ttg	p.L730L	TRIP12_ENST00000389044.4_Silent_p.L778L|TRIP12_ENST00000389045.3_Silent_p.L433L|TRIP12_ENST00000543084.1_Intron	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	730					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		TACCAAATCAGAGATGTCAGT	0.478													8	73					0	0	0	0	A	230672975	G	A	230672975	2	1	451	1	0	0	0	0	0	0	0	1	16651	933	33	2		2	TRIP12	2	230672975	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5816349	230672975	12526398	62	88120											
NUP210	23225	broad.mit.edu	37	chr3	13367415	13367415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgctgttggccgaggagctCcaggttcctgagaggcctgg	6	9	16	10	1	0	1	0	1	0	1	2	4	2	2	4	5	2	4	4	5	0	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:13367415C>G	ENST00000254508.5	-	33	4606	c.4524G>C	c.(4522-4524)tgG>tgC	p.W1508C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1508					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCGAGGAGCTCCAGGTTCCTG	0.627													21	108					0	0	0	0	G	13367415	C	G	13367415	3	3	451	1	0	0	0	0	1	0	0	0	10831	856	30	2	1171	2	NUP210	3	13367415	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		13367415	184655015	63	88121											
ZNF385D	79750	broad.mit.edu	37	chr3	21478518	21478518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaccttgcatagcgaaCagtaaagaagccgttttgcc	13	8	9	11	2	0	1	0	0	0	1	0	2	0	1	3	0	7	4	3	0	6	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:21478518C>A	ENST00000281523.2	-	5	1135	c.617G>T	c.(616-618)tGt>tTt	p.C206F	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	206						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCATAGCGAACAGTAAAGAAG	0.478													21	127					1.64293e-13	1.73003e-13	1	0	A	21478518	C	A	21478518	3	1	451	1	0	0	0	0	1	0	0	0	17973	478	17	4	586	4	ZNF385D	3	21478518	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	8111103	21478518	176543912	64	88122											
NGLY1	55768	broad.mit.edu	37	chr3	25773840	25773840	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttcacctcgggctactctCcaagccactgacccagatat	10	10	6	15	1	2	2	1	1	1	1	4	2	2	2	4	1	2	1	4	1	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:25773840C>T	ENST00000428257.1	-	9	1448	c.1341G>A	c.(1339-1341)tgG>tgA	p.W447*	NGLY1_ENST00000396649.3_Nonsense_Mutation_p.W465*|NGLY1_ENST00000280700.5_Nonsense_Mutation_p.W465*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.W423*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	465					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GGGCTACTCTCCAAGCCACTG	0.413													15	121					0	0	0	0	T	25773840	C	T	25773840	4	4	451	1	0	0	0	0	0	1	0	0	10468	856	30	2	585	2	NGLY1	3	25773840	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	4295322	25773840	172248590	65	88123											
ZNF197	10168	broad.mit.edu	37	chr3	44684657	44684657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactggagagaatctctatGaatgtaaagattgtggtaag	15	11	11	4	0	1	3	0	1	1	2	2	5	1	4	0	2	0	2	0	2	6	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:44684657G>A	ENST00000396058.1	+	5	2202	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.E679K|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	679					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAATCTCTATGAATGTAAAGA	0.418													5	55					0	0	0	0	A	44684657	G	A	44684657	3	1	451	1	0	0	0	0	1	0	0	0	17854	1291	45	2	2053	2	ZNF197	3	44684657	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	18910817	44684657	153337773	66	88124											
CCDC71	64925	broad.mit.edu	37	chr3	49201250	49201250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcatgcttggcaagggctGgtgtggatgctttggccagt	6	12	16	7	0	0	0	0	0	0	0	0	1	0	1	1	5	3	5	1	5	2	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:49201250G>A	ENST00000321895.6	-	2	498	c.392C>T	c.(391-393)cCa>cTa	p.P131L		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	131										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAAGGGCTGGTGTGGATGC	0.632													16	68					0	0	0	0	A	49201250	G	A	49201250	3	1	451	1	0	0	0	0	1	0	0	0	2871	1348	47	4	1015	4	CCDC71	3	49201250	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4516593	49201250	148821180	67	88125											
ATXN7	6314	broad.mit.edu	37	chr3	63982159	63982159	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagttccctccttcatcaGgtaggaaatggactgtgagc	11	10	10	10	0	2	1	2	1	0	0	4	3	4	3	2	3	2	2	2	3	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:63982159G>C	ENST00000398590.3	+	12	3214	c.2661_splice	c.e12+1	p.Q887_splice	ATXN7_ENST00000295900.6_Splice_Site_p.Q887_splice|ATXN7_ENST00000538065.1_Splice_Site_p.Q887_splice|ATXN7_ENST00000484332.1_Splice_Site_p.Q742_splice|ATXN7_ENST00000487717.1_Splice_Site_p.Q887_splice	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	887					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCCTTCATCAGGTAGGAAATG	0.493													5	55					0	0	0	0	C	63982159	G	C	63982159	5	2	451	1	0	0	0	0	0	0	1	0	1219	1014	35	4	2767	4	ATXN7	3	63982159	Splice_Site	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	14780909	63982159	134040271	68	88126											
KIAA2018	205717	broad.mit.edu	37	chr3	113376843	113376843	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttggtggctgagaagttGaatcctgtaaagatgcattt	10	14	12	5	0	0	3	0	2	0	2	1	4	1	3	1	2	2	5	1	2	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:113376843G>C	ENST00000316407.4	-	7	4096	c.3686C>G	c.(3685-3687)tCa>tGa	p.S1229*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.S1229*	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1229					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTGAGAAGTTGAATCCTGTAA	0.433													6	76					0	0	0	0	C	113376843	G	C	113376843	4	2	451	1	0	0	0	0	0	1	0	0	8319	1294	45	2	3055	2	KIAA2018	3	113376843	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	49394684	113376843	84645587	69	88127											
PARP14	54625	broad.mit.edu	37	chr3	122446757	122446757	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaatgaatgagaagcaactCttccatgggacagatgccgg	14	7	11	9	1	1	3	0	2	1	2	2	5	2	4	2	2	3	1	2	2	4	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:122446757C>G	ENST00000474629.2	+	16	5306	c.5040C>G	c.(5038-5040)ctC>ctG	p.L1680L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1680	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAAGCAACTCTTCCATGGGA	0.478													8	53					0	0	0	0	G	122446757	C	G	122446757	2	3	451	1	0	0	0	0	0	0	0	1	11529	900	32	2		2	PARP14	3	122446757	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	9069914	122446757	75575673	70	88128											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459417	122459417	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccttgtccacaaagtctttCccatcacttccaaatatgcc	10	13	3	15	0	2	0	1	0	1	0	6	0	6	0	5	0	1	0	5	0	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:122459417C>G	ENST00000306103.2	-	8	1385	c.1242G>C	c.(1240-1242)ggG>ggC	p.G414G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	414						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CAAAGTCTTTCCCATCACTTC	0.468													21	161					0	0	0	0	G	122459417	C	G	122459417	2	3	451	1	0	0	0	0	0	0	0	1	7478	842	30	2		2	HSPBAP1	3	122459417	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	12660	122459417	75563013	71	88129											
ZNF148	7707	broad.mit.edu	37	chr3	124952001	124952001	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactcttaatctccacattCagtgcctgtgactctaatat	10	16	4	11	0	4	1	1	1	3	0	5	1	4	1	2	0	2	0	2	0	4	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:124952001C>T	ENST00000360647.4	-	9	2054	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Silent_p.L523L|ZNF148_ENST00000485866.1_Silent_p.L523L|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Silent_p.L523L|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	523					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACATTCAGTGCCTGTG	0.428													24	149					0	0	0	0	T	124952001	C	T	124952001	2	4	451	1	0	0	0	0	0	0	0	1	17829	813	29	2		2	ZNF148	3	124952001	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2492584	124952001	73070429	72	88130											
CPB1	1360	broad.mit.edu	37	chr3	148558549	148558549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcaacaggacacagttatGagaagtacaacaagtgggaa	17	6	12	6	0	0	1	0	1	0	1	0	4	0	3	0	2	4	3	0	2	7	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:148558549G>A	ENST00000491148.1	+	5	683	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CPB1_ENST00000282957.4_Missense_Mutation_p.E117K			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	117					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACACAGTTATGAGAAGTACAA	0.428													5	135					0	0	0	0	A	148558549	G	A	148558549	3	1	451	1	0	0	0	0	1	0	0	0	3826	1291	45	2	363	2	CPB1	3	148558549	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	23606548	148558549	49463881	73	88131											
MFSD1	64747	broad.mit.edu	37	chr3	158519957	158519957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcaatggaggaggaggatGaggaagcgcgggcgctcctg	9	4	20	8	4	0	1	0	1	0	0	1	6	1	6	1	6	1	2	1	6	2	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:158519957G>A	ENST00000415822.2	+	1	304	c.163G>A	c.(163-165)Gag>Aag	p.E55K	MFSD1_ENST00000264266.8_Missense_Mutation_p.E6K|MFSD1_ENST00000392813.4_Missense_Mutation_p.E55K	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	6					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGAGGAGGATGAGGAAGCGCG	0.697													3	32					0	0	0	0	A	158519957	G	A	158519957	3	1	451	1	0	0	0	0	1	0	0	0	9596	1291	45	2	165	2	MFSD1	3	158519957	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9961408	158519957	39502473	74	88132											
WDR49	151790	broad.mit.edu	37	chr3	167248966	167248966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataacagcatttttgccctCagtgtcaatctcaaagttgc	11	13	6	11	0	3	0	3	0	1	0	4	0	3	0	1	0	4	2	1	0	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:167248966C>G	ENST00000308378.3	-	9	1404	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	WDR49_ENST00000453925.2_Missense_Mutation_p.E431Q|WDR49_ENST00000476376.1_Missense_Mutation_p.E192Q|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	367										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTTTGCCCTCAGTGTCAATC	0.408													7	72					0	0	0	0	G	167248966	C	G	167248966	3	3	451	1	0	0	0	0	1	0	0	0	17398	835	29	2	1022	2	WDR49	3	167248966	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	8729009	167248966	30773464	75	88133											
LIPH	200879	broad.mit.edu	37	chr3	185252682	185252682	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttcatgtcttcaacagaGagcaaaccctttactaagtc	13	11	6	11	1	3	1	2	0	1	1	4	2	3	1	1	0	4	2	1	0	4	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:185252682G>C	ENST00000296252.4	-	2	429	c.288C>G	c.(286-288)ctC>ctG	p.L96L	LIPH_ENST00000424591.2_Silent_p.L96L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	96					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTCAACAGAGAGCAAACCCT	0.438													5	128					0	0	0	0	C	185252682	G	C	185252682	2	2	451	1	0	0	0	0	0	0	0	1	8879	929	33	2		2	LIPH	3	185252682	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	18003716	185252682	12769748	76	88134											
UBXN7	26043	broad.mit.edu	37	chr3	196120455	196120455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaaatcccggaaaccatCaaaaattgaacgtgcaggcc	16	6	8	11	2	1	2	1	2	0	0	2	3	2	3	3	2	3	1	3	2	6	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:196120455C>G	ENST00000296328.4	-	4	399	c.325G>C	c.(325-327)Gat>Cat	p.D109H	UBXN7_ENST00000535858.1_5'UTR|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	109							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CGGAAACCATCAAAAATTGAA	0.328													9	97					0	0	0	0	G	196120455	C	G	196120455	3	3	451	1	0	0	0	0	1	0	0	0	17014	826	29	2	1176	2	UBXN7	3	196120455	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	10867773	196120455	1901975	77	88135											
KIAA0226	9711	broad.mit.edu	37	chr3	197410213	197410213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgctccgggacaagccactCcagctccgaggcggctggaa	9	5	13	14	3	0	0	0	0	0	0	3	3	3	2	4	4	3	3	4	4	2	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:197410213C>G	ENST00000273582.5	-	14	2355	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E674Q|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E649Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	649	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACAAGCCACTCCAGCTCCGAG	0.607													14	66					0	0	0	0	G	197410213	C	G	197410213	3	3	451	1	0	0	0	0	1	0	0	0	8213	864	30	2	1005	2	KIAA0226	3	197410213	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1289758	197410213	612217	78	88136											
RNF4	6047	broad.mit.edu	37	chr4	2514856	2514856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcatggacggatactcaGaggtaagtaaaccaagctgt	13	9	11	8	1	2	1	1	0	1	1	2	3	2	3	1	3	4	4	1	3	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:2514856G>A	ENST00000511600.1	+	7	1936	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RNF4_ENST00000506706.1_Missense_Mutation_p.E141K|RNF4_ENST00000314289.8_Missense_Mutation_p.E141K|RNF4_ENST00000511859.1_Silent_p.Q87Q|RNF4_ENST00000541204.1_Missense_Mutation_p.E141K			P78317	RNF4_HUMAN	ring finger protein 4	141					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CGGATACTCAGAGGTAAGTAA	0.458													33	266					0	0	0	0	A	2514856	G	A	2514856	3	1	451	1	0	0	0	0	1	0	0	0	13577	943	33	2	443	2	RNF4	4	2514856	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		2514856	188639420	79	88137											
HTT	3064	broad.mit.edu	37	chr4	3138037	3138037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtgcgacatgttgccGcagcatcactaattaggtat	10	10	11	10	2	1	0	1	0	0	0	1	1	1	0	2	2	3	4	2	2	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:3138037G>A	ENST00000355072.5	+	21	2927	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	928					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.A928T(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)		ACATGTTGCCGCAGCATCACT	0.378													3	30					0	0	0	0	A	3138037	G	A	3138037	3	1	451	1	0	0	0	0	1	0	0	0	7510	1087	38	1	2864	1	HTT	4	3138037	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	623181	3138037	188016239	80	88138											
STX18	53407	broad.mit.edu	37	chr4	4543550	4543550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggcccggctggagaagtCgcccttgggccgggggctcc	3	5	19	14	4	0	1	0	0	0	1	2	2	1	1	4	6	0	2	4	6	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:4543550C>T	ENST00000306200.2	-	1	205	c.142G>A	c.(142-144)Gac>Aac	p.D48N	STX18_ENST00000505286.1_Missense_Mutation_p.D48N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	48					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CTGGAGAAGTCGCCCTTGGGC	0.711													4	45					0	0	0	0	T	4543550	C	T	4543550	3	4	451	1	0	0	0	0	1	0	0	0	15431	884	31	1	909	1	STX18	4	4543550	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1405513	4543550	186610726	81	88139											
C4orf50	389197	broad.mit.edu	37	chr4	5981936	5981936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctggaggcgggtggcctCgtccagagacgcctggtggg	4	7	18	12	3	0	1	0	0	0	1	3	3	2	2	4	6	0	0	4	6	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:5981936C>T	ENST00000531445.1	-	2	1601	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	C4orf50_ENST00000324058.5_Missense_Mutation_p.E45K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	45										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CGGGTGGCCTCGTCCAGAGAC	0.682													5	33					0	0	0	0	T	5981936	C	T	5981936	3	4	451	1	0	0	0	0	1	0	0	0	2297	893	31	1	721	1	C4orf50	4	5981936	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1438386	5981936	185172340	82	88140											
AFF1	4299	broad.mit.edu	37	chr4	88036053	88036053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctgccccctctaaggctCtctcaggcccagaacccgcg	6	7	8	20	2	3	1	1	0	2	1	5	1	4	1	5	2	2	1	5	2	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:88036053C>G	ENST00000307808.6	+	11	2467	c.2047C>G	c.(2047-2049)Ctc>Gtc	p.L683V	AFF1_ENST00000395146.4_Missense_Mutation_p.L690V|AFF1_ENST00000544085.1_Missense_Mutation_p.L321V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	683						nucleus	sequence-specific DNA binding transcription factor activity			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)		CTCTAAGGCTCTCTCAGGCCC	0.637													10	84					0	0	0	0	G	88036053	C	G	88036053	3	3	451	1	0	0	0	0	1	0	0	0	356	913	32	2	2131	2	AFF1	4	88036053	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	82054117	88036053	103118223	83	88141											
DSPP	1834	broad.mit.edu	37	chr4	88535226	88535226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaatagcagtgatgaatCtaatggcaatgatgatgcta	14	11	9	7	0	1	4	0	4	1	0	2	4	2	4	1	1	2	3	1	1	6	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:88535226C>G	ENST00000399271.1	+	5	1532	c.1412C>G	c.(1411-1413)tCt>tGt	p.S471C	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.S471C	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	471	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGTGATGAATCTAATGGCAAT	0.388													21	94					0	0	0	0	G	88535226	C	G	88535226	3	3	451	1	0	0	0	0	1	0	0	0	4818	913	32	2	1426	2	DSPP	4	88535226	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	499173	88535226	102619050	84	88142											
HERC3	8916	broad.mit.edu	37	chr4	89625374	89625374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgagctcttccagccttCagaactgagggctatgatgg	9	11	11	10	0	2	4	1	3	1	1	3	4	3	4	2	2	3	2	2	2	2	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:89625374C>T	ENST00000402738.1	+	24	3022	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	HERC3_ENST00000543130.1_Missense_Mutation_p.S372L|HERC3_ENST00000264345.3_Missense_Mutation_p.S928L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	928					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCCAGCCTTCAGAACTGAGG	0.458													27	159					0	0	0	0	T	89625374	C	T	89625374	3	4	451	1	0	0	0	0	1	0	0	0	7109	838	29	2	2869	2	HERC3	4	89625374	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1090148	89625374	101528902	85	88143											
TRIML2	205860	broad.mit.edu	37	chr4	189012916	189012916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctggttgccttttccacgtCcacctcccagtagtgcctcc	4	12	7	18	1	0	0	0	0	0	0	4	0	4	0	8	1	2	2	8	1	1	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:189012916C>T	ENST00000512729.1	-	7	1149	c.775G>A	c.(775-777)Gac>Aac	p.D259N	TRIML2_ENST00000326754.3_Missense_Mutation_p.D284N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	259	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTTCCACGTCCACCTCCCAG	0.597													34	250					0	0	0	0	T	189012916	C	T	189012916	3	4	451	1	0	0	0	0	1	0	0	0	16646	855	30	2	392	2	TRIML2	4	189012916	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	99387542	189012916	2141360	86	88144											
SEMA5A	9037	broad.mit.edu	37	chr5	9063171	9063171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccaagccccgttgacCgtgtgggcagagtatctccc	7	8	12	14	2	1	3	0	2	1	1	2	3	1	3	5	1	1	4	5	1	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:9063171C>T	ENST00000382496.5	-	18	3011	c.2346G>A	c.(2344-2346)acG>acA	p.T782T		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	782					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCCCGTTGACCGTGTGGGCAG	0.562													3	28					0	0	0	0	T	9063171	C	T	9063171	2	4	451	1	0	0	0	0	0	0	0	1	14124	639	23	1		1	SEMA5A	5	9063171	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		9063171	171852089	87	88145											
GOLPH3	64083	broad.mit.edu	37	chr5	32126511	32126511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaatgagggccagcaagCgcctgtccatgcggtgaggg	9	6	17	9	2	0	2	0	2	0	0	1	2	1	2	3	4	3	2	3	4	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:32126511C>T	ENST00000265070.6	-	4	1019	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	235					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.R235H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GGCCAGCAAGCGCCTGTCCAT	0.517													8	98					0	0	0	0	T	32126511	C	T	32126511	3	4	451	1	0	0	0	0	1	0	0	0	6616	768	27	1	196	1	GOLPH3	5	32126511	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	23063340	32126511	148788749	88	88146											
NIPBL	25836	broad.mit.edu	37	chr5	37059151	37059151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatataaattcagtgatGaaatgtttgccagaaaattc	16	12	8	5	1	1	3	1	2	0	1	2	5	1	3	1	0	1	1	1	0	6	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059151G>T	ENST00000282516.8	+	44	8068	c.7569G>T	c.(7567-7569)atG>atT	p.M2523I	NIPBL_ENST00000448238.2_Missense_Mutation_p.M2523I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2523					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCAGTGATGAAATGTTTGC	0.368													11	69					2.80697e-09	2.92059e-09	1	0	T	37059151	G	T	37059151	3	4	451	1	0	0	0	0	1	0	0	0	10498	1290	45	2	7739	2	NIPBL	5	37059151	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4932640	37059151	143856109	89	88147			1	142		6	5	4945	N	G_C	3.97398e-07
NIPBL	25836	broad.mit.edu	37	chr5	37059248	37059248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaacaacatttgaagaatCtttgtggattttctgatagg	14	15	8	4	0	2	3	0	2	2	1	2	4	2	4	0	2	2	0	0	2	6	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059248C>T	ENST00000282516.8	+	44	8165	c.7666C>T	c.(7666-7668)Ctt>Ttt	p.L2556F	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2556F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2556					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTGAAGAATCTTTGTGGATT	0.353													6	50					0	0	0	0	T	37059248	C	T	37059248	3	4	451	1	0	0	0	0	1	0	0	0	10498	913	32	2	7836	2	NIPBL	5	37059248	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	97	37059248	143856012	90	88148			1	142		6	5	4945	N	G_C	3.97398e-07
NIPBL	25836	broad.mit.edu	37	chr5	37059261	37059261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaatctttgtggattttCtgataggtaaggttacataa	13	15	10	3	0	2	2	0	1	2	1	2	4	2	3	0	3	1	2	0	3	6	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059261C>T	ENST00000282516.8	+	44	8178	c.7679C>T	c.(7678-7680)tCt>tTt	p.S2560F	NIPBL_ENST00000448238.2_Missense_Mutation_p.S2560F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2560					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGTGGATTTTCTGATAGGTAA	0.363													6	54					0	0	0	0	T	37059261	C	T	37059261	3	4	451	1	0	0	0	0	1	0	0	0	10498	913	32	2	7849	2	NIPBL	5	37059261	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	13	37059261	143855999	91	88149			1	142		6	5	4945	N	G_C	3.97398e-07
NIPBL	25836	broad.mit.edu	37	chr5	37061005	37061005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatgataaagcgataaaccGaaaaacaggagttcattttc	18	10	7	6	2	1	1	1	1	0	0	2	4	1	2	1	1	3	1	1	1	7	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37061005G>A	ENST00000282516.8	+	45	8244	c.7745G>A	c.(7744-7746)cGa>cAa	p.R2582Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2582Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2582					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCGATAAACCGAAAAACAGGA	0.353													5	49					0	0	0	0	A	37061005	G	A	37061005	3	1	451	1	0	0	0	0	1	0	0	0	10498	1058	37	1	7919	1	NIPBL	5	37061005	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1744	37061005	143854255	92	88150			1	142		6	5	4945	N	G_C	3.97398e-07
NIPBL	25836	broad.mit.edu	37	chr5	37064094	37064094	+	Missense_Mutation	SNP	G	G	A																															ttcaggggtgaggcggaggaGgagtcaacgtatttcgcagc																										TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37064094G>A	ENST00000448238.2	+	46	8531	c.8063G>A	c.(8062-8064)aGg>aAg	p.R2688K	NIPBL_ENST00000282516.8_Intron			Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	844					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGCGGAGGAGGAGTCAACGT	0.418													7	37					0	0	0	0	A	37064094	G	A	37064094	3	1	451	1	0	0	0	0	1	0	0	0	10498	1000	35	4	8241	4	NIPBL	5	37064094	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3089	37064094	143851166	93	88151	1092	2	1	142		6	5	4945	N	G_C	3.97398e-07
NIPBL	25836	broad.mit.edu	37	chr5	37064095	37064095	+	Silent	SNP	G	G	A																															tcaggggtgaggcggaggagGagtcaacgtatttcgcagcg																										TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37064095G>A	ENST00000448238.2	+	46	8532	c.8064G>A	c.(8062-8064)agG>agA	p.R2688R	NIPBL_ENST00000282516.8_Intron			Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	844					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGCGGAGGAGGAGTCAACGTA	0.413													7	37					0	0	0	0	A	37064095	G	A	37064095	2	1	451	1	0	0	0	0	0	0	0	1	10498	1165	41	2		2	NIPBL	5	37064095	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1	37064095	143851165	94	88152	1092	2	1	142		6	5	4945	N	G_C	3.97398e-07
C5orf51	285636	broad.mit.edu	37	chr5	41911179	41911179	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttggggatgagctactGgaatgtctctcttggagacg	7	13	14	7	1	2	2	0	1	2	1	3	5	2	4	0	4	3	2	0	4	2	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:41911179G>T	ENST00000381647.2	+	4	403	c.384G>T	c.(382-384)ctG>ctT	p.L128L	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	128										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGAGCTACTGGAATGTCTCT	0.378													8	37					1.06961e-07	1.10763e-07	1	0	T	41911179	G	T	41911179	2	4	451	1	0	0	0	0	0	0	0	1	2329	1335	47	4		4	C5orf51	5	41911179	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4847084	41911179	139004081	95	88153											
HCN1	348980	broad.mit.edu	37	chr5	45262058	45262058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcgtggcttttctgcgtCtgggtctgtgtttaagactg	6	16	12	7	2	3	1	0	0	3	1	4	1	3	1	0	2	1	2	0	2	2	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:45262058C>T	ENST00000303230.4	-	8	2695	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	880						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTCTGCGTCTGGGTCTGTG	0.483													23	170					0	0	0	0	T	45262058	C	T	45262058	3	4	451	1	0	0	0	0	1	0	0	0	7046	913	32	2	38	2	HCN1	5	45262058	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3350879	45262058	135653202	96	88154											
PPAP2A	8611	broad.mit.edu	37	chr5	54721830	54721830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtgtggggcgtaagagtCttgcccagtctcccttcatc	6	11	12	12	1	3	1	1	0	2	1	5	1	3	1	2	2	1	2	2	2	1	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:54721830C>T	ENST00000307259.8	-	5	1007	c.587G>A	c.(586-588)aGa>aAa	p.R196K	PPAP2A_ENST00000264775.5_Missense_Mutation_p.R197K	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	196					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GCGTAAGAGTCTTGCCCAGTC	0.378													13	98					0	0	0	0	T	54721830	C	T	54721830	3	4	451	1	0	0	0	0	1	0	0	0	12361	913	32	2	275	2	PPAP2A	5	54721830	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	9459772	54721830	126193430	97	88155											
IL31RA	133396	broad.mit.edu	37	chr5	55155385	55155385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggatgatgtggacctggGcactgtggatgctcccctca	6	10	15	10	0	1	1	1	1	0	0	2	4	2	4	3	5	1	2	3	5	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:55155385G>A	ENST00000396834.1	+	4	551	c.55G>A	c.(55-57)Gca>Aca	p.A19T	IL31RA_ENST00000354961.4_Missense_Mutation_p.A19T|IL31RA_ENST00000396836.2_Missense_Mutation_p.A38T|IL31RA_ENST00000359040.5_Missense_Mutation_p.A38T|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.A38T|IL31RA_ENST00000297015.3_5'UTR	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	6					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGGACCTGGGCACTGTGGAT	0.468													18	104					0	0	0	0	A	55155385	G	A	55155385	3	1	451	1	0	0	0	0	1	0	0	0	7744	1203	42	4	118	4	IL31RA	5	55155385	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	433555	55155385	125759875	98	88156											
MAST4	375449	broad.mit.edu	37	chr5	66461212	66461212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcagctggaattccctgtGagaaggagctgggcaaggtg	10	8	15	8	0	1	1	1	1	0	1	2	4	2	3	1	4	2	3	1	4	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:66461212G>A	ENST00000404260.3	+	29	6522	c.6214G>A	c.(6214-6216)Gag>Aag	p.E2072K	MAST4_ENST00000405643.1_Missense_Mutation_p.E1890K|MAST4_ENST00000261569.7_Missense_Mutation_p.E1875K|MAST4_ENST00000403625.2_Missense_Mutation_p.E2069K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1880K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2072						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AATTCCCTGTGAGAAGGAGCT	0.617													10	80					0	0	0	0	A	66461212	G	A	66461212	3	1	451	1	0	0	0	0	1	0	0	0	9396	1291	45	2	6449	2	MAST4	5	66461212	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	11305827	66461212	114454048	99	88157											
GFM2	84340	broad.mit.edu	37	chr5	74021841	74021841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggccttcattgatactttCagcatactcaaactcaatca	14	12	4	11	0	5	1	5	1	0	0	5	1	5	1	1	1	4	1	1	1	5	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:74021841C>G	ENST00000296805.3	-	18	2294	c.1837G>C	c.(1837-1839)Gaa>Caa	p.E613Q	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000345239.2_Missense_Mutation_p.E566Q|GFM2_ENST00000509430.1_Missense_Mutation_p.E613Q	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	613					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGATACTTTCAGCATACTCA	0.418													13	92					0	0	0	0	G	74021841	C	G	74021841	3	3	451	1	0	0	0	0	1	0	0	0	6393	835	29	2	518	2	GFM2	5	74021841	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	7560629	74021841	106893419	100	88158											
C5orf56	441108	broad.mit.edu	37	chr5	131796262	131796262	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctcaaccagggaatcttCaaactcttcttctccactgg	9	13	5	14	0	7	0	2	0	5	0	9	1	7	1	2	2	2	0	2	2	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:131796262C>T	ENST00000337752.2	+	4	228	c.97C>T	c.(97-99)Caa>Taa	p.Q33*	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	33										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						agggaatcttcaaactcttct	0.552													40	244					0	0	0	0	T	131796262	C	T	131796262	4	4	451	1	0	0	0	0	0	1	0	0	2333	827	29	2	107	2	C5orf56	5	131796262	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	57774421	131796262	49118998	101	88159											
MATR3	9782	broad.mit.edu	37	chr5	138657676	138657676	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcaggggagatgtgtGaaggttgacctgtctgagaa	9	12	16	4	0	2	4	1	3	1	2	2	6	2	4	1	4	0	2	1	4	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:138657676G>T	ENST00000394800.2	+	14	2241	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V	MATR3_ENST00000509990.1_Silent_p.V564V|MATR3_ENST00000510056.1_Silent_p.V564V|MATR3_ENST00000504203.1_Silent_p.V226V|MATR3_ENST00000503811.1_Silent_p.V276V|MATR3_ENST00000502929.1_Silent_p.V564V|MATR3_ENST00000502499.1_Silent_p.V226V|MATR3_ENST00000394805.3_Silent_p.V564V|MATR3_ENST00000361059.2_Silent_p.V564V			P43243	MATR3_HUMAN	matrin 3	564	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGAGATGTGTGAAGGTTGACC	0.358													15	97					6.31663e-08	6.55669e-08	1	0	T	138657676	G	T	138657676	2	4	451	1	0	0	0	0	0	0	0	1	9406	1277	45	2		2	MATR3	5	138657676	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	6861414	138657676	42257584	102	88160											
PCDHA5	56143	broad.mit.edu	37	chr5	140201951	140201951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagagctggttttgaggaaAtccttagatagagaagaaac	15	11	11	4	0	0	5	0	1	0	4	1	7	1	6	1	2	2	2	1	2	6	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:140201951A>T	ENST00000529859.1	+	1	591	c.591A>T	c.(589-591)aaA>aaT	p.K197N	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.K197N|PCDHA5_ENST00000378126.3_Missense_Mutation_p.K197N|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGAGGAAATCCTTAGATA	0.348													19	96					0	0	0	0	T	140201951	A	T	140201951	3	4	451	1	0	0	0	0	1	0	0	0	11598	98	4	5	593	5	PCDHA5	5	140201951	Missense_Mutation	SNP	A	TCGA-MT-A67F-01A-11D-A30E-08	1544275	140201951	40713309	103	88161											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710615	140710615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctttttcctgttgaagtaGaaataattgatattaatgac	14	16	7	4	0	0	4	0	3	0	1	1	4	1	4	1	0	1	3	1	0	6	8			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:140710615G>A	ENST00000517417.1	+	1	364	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E122K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGAAGTAGAAATAATTGA	0.418													22	173					0	0	0	0	A	140710615	G	A	140710615	3	1	451	1	0	0	0	0	1	0	0	0	11621	943	33	2	366	2	PCDHGA1	5	140710615	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	508664	140710615	40204645	104	88162											
POU4F3	5459	broad.mit.edu	37	chr5	145719521	145719521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgccatgcctgcatgcctCagcgacgtggagtcagaccc	8	6	12	15	3	2	1	2	0	0	1	2	3	2	2	4	1	5	1	4	1	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:145719521C>T	ENST00000230732.4	+	2	620	c.531C>T	c.(529-531)ctC>ctT	p.L177L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	177					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCATGCCTCAGCGACGTGG	0.692													6	87					0	0	0	0	T	145719521	C	T	145719521	2	4	451	1	0	0	0	0	0	0	0	1	12351	813	29	2		2	POU4F3	5	145719521	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5008906	145719521	35195739	105	88163											
FAT2	2196	broad.mit.edu	37	chr5	150947413	150947413	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaacagccttctcgaatttGagggaagacagtttggaagg	13	10	12	6	1	1	2	0	1	1	1	2	5	1	4	1	3	2	1	1	3	5	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:150947413G>C	ENST00000261800.5	-	1	1092	c.1080C>G	c.(1078-1080)ctC>ctG	p.L360L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	360					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCGAATTTGAGGGAAGACA	0.552													19	126					0	0	0	0	C	150947413	G	C	150947413	2	2	451	1	0	0	0	0	0	0	0	1	5735	1277	45	2		2	FAT2	5	150947413	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5227892	150947413	29967847	106	88164											
ATP10B	23120	broad.mit.edu	37	chr5	160047823	160047823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacgttggcccctaagctCtccccgaggtctgtgtcaga	6	9	11	15	2	3	1	1	0	2	1	4	2	3	1	5	2	1	2	5	2	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:160047823C>G	ENST00000327245.5	-	15	2793	c.1947G>C	c.(1945-1947)gaG>gaC	p.E649D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	649					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCTAAGCTCTCCCCGAGGT	0.557													27	136					0	0	0	0	G	160047823	C	G	160047823	3	3	451	1	0	0	0	0	1	0	0	0	1121	912	32	2	2486	2	ATP10B	5	160047823	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	9100410	160047823	20867437	107	88165											
GABRA6	2559	broad.mit.edu	37	chr5	161118948	161118948	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctattcttttttattttaggGatcaccactgttttaactat	9	21	4	7	0	2	0	1	0	1	0	2	1	2	1	1	1	1	1	1	1	5	10			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:161118948G>A	ENST00000523217.1	+	8	1040	c.796_splice	c.e8-1	p.G266_splice	GABRA6_ENST00000274545.5_Splice_Site_p.G276_splice	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	276					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATTTTAGGGATCACCACTG	0.388										TCGA Ovarian(5;0.080)			16	124					0	0	0	0	A	161118948	G	A	161118948	5	1	451	1	0	0	0	0	0	0	1	0	6213	1188	41	2	858	2	GABRA6	5	161118948	Splice_Site	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1071125	161118948	19796312	108	88166											
GABRA1	2554	broad.mit.edu	37	chr5	161300263	161300263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatttttccacaatggaaaGaagtcagtggcccacaacat	15	9	7	10	0	1	1	1	0	0	1	2	2	2	2	2	2	1	0	2	2	4	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:161300263G>A	ENST00000428797.2	+	6	751	c.396G>A	c.(394-396)aaG>aaA	p.K132K	GABRA1_ENST00000420560.1_Silent_p.K132K|GABRA1_ENST00000023897.6_Silent_p.K132K|GABRA1_ENST00000444819.1_Silent_p.K132K|GABRA1_ENST00000393943.4_Silent_p.K132K|GABRA1_ENST00000437025.2_Silent_p.K132K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	132				Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACAATGGAAAGAAGTCAGTGG	0.463													8	72					0	0	0	0	A	161300263	G	A	161300263	2	1	451	1	0	0	0	0	0	0	0	1	6208	933	33	2		2	GABRA1	5	161300263	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	181315	161300263	19614997	109	88167											
FLT4	2324	broad.mit.edu	37	chr5	180048648	180048648	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgcgacgcgggggatactCaggctgagcgtggcgtggcg	5	5	21	10	7	1	1	1	1	0	0	1	3	1	2	0	6	2	1	0	6	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:180048648C>G	ENST00000261937.6	-	13	1992	c.1914G>C	c.(1912-1914)ctG>ctC	p.L638L	FLT4_ENST00000393347.3_Silent_p.L638L|FLT4_ENST00000502649.1_Silent_p.L638L|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	638	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGGATACTCAGGCTGAGCG	0.662													7	43					0	0	0	0	G	180048648	C	G	180048648	2	3	451	1	0	0	0	0	0	0	0	1	5989	813	29	2		2	FLT4	5	180048648	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	18748385	180048648	866612	110	88168											
TFAP2A	7020	broad.mit.edu	37	chr6	10410439	10410439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gataggctggtagggtggggGgaagtatgggggctggaagt	8	8	23	2	0	0	0	0	0	0	0	0	3	0	2	0	9	0	4	0	9	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:10410439G>A	ENST00000379613.3	-	2	437	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	TFAP2A_ENST00000319516.4_Missense_Mutation_p.P55S|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000482890.1_Missense_Mutation_p.P59S|TFAP2A_ENST00000379608.3_Missense_Mutation_p.P53S|TFAP2A_ENST00000379604.2_Missense_Mutation_p.P59S|TFAP2A_ENST00000497266.1_Intron			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	59	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGGGTGGGGGGAAGTATGGG	0.657													21	85					0	0	0	0	A	10410439	G	A	10410439	3	1	451	1	0	0	0	0	1	0	0	0	15881	1232	43	4	1162	4	TFAP2A	6	10410439	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		10410439	160704628	111	88169											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033433	26033433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggccttatgatggctctCagttttcttaggcagcagca	7	14	10	10	0	2	1	1	1	2	0	3	1	2	1	1	3	2	5	1	3	2	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:26033433C>G	ENST00000259791.2	-	1	363	c.364G>C	c.(364-366)Gag>Cag	p.E122Q		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGATGGCTCTCAGTTTTCTTA	0.488													10	80					0	0	0	0	G	26033433	C	G	26033433	3	3	451	1	0	0	0	0	1	0	0	0	7179	835	29	2	32	2	HIST1H2AB	6	26033433	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	15622994	26033433	145081634	112	88170											
DHX16	8449	broad.mit.edu	37	chr6	30633423	30633423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaaaaggaactcctcatCagccagctccgcctccaggt	11	6	7	17	1	2	0	2	0	0	0	5	1	5	1	6	2	3	1	6	2	3	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:30633423C>T	ENST00000376442.3	-	5	949	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	252					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AACTCCTCATCAGCCAGCTCC	0.617													16	106					0	0	0	0	T	30633423	C	T	30633423	3	4	451	1	0	0	0	0	1	0	0	0	4539	826	29	2	2435	2	DHX16	6	30633423	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	4599990	30633423	140481644	113	88171											
HLA-DQB1	3119	broad.mit.edu	37	chr6	32629838	32629838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcatttccagcatcaccagGatctggaaagtccagtcacc	11	9	8	13	0	4	0	3	0	1	0	6	2	6	2	4	2	1	1	4	2	1	1	rs9280010		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:32629838G>A	ENST00000399084.1	-	4	745	c.567C>T	c.(565-567)atC>atT	p.I189I	HLA-DQB1_ENST00000399082.3_Silent_p.I99I|HLA-DQB1_ENST00000374943.4_Silent_p.I189I|HLA-DQB1_ENST00000434651.2_Silent_p.I189I|HLA-DQB1_ENST00000399079.3_Silent_p.I189I|XXbac-BPG254F23.6_ENST00000443574.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	189	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCATCACCAGGATCTGGAAAG	0.582									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				15	79					0	0	0	0	A	32629838	G	A	32629838	2	1	451	1	0	0	0	0	0	0	0	1	7256	1164	41	2		2	HLA-DQB1	6	32629838	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1996415	32629838	138485229	114	88172											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975186	32975186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcaggtagtggaacttgCggaacaaatggtcaggctgg	11	7	17	6	1	1	0	1	0	0	0	1	2	1	2	0	7	3	3	0	7	4	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:32975186C>T	ENST00000229829.5	-	3	590	c.515G>A	c.(514-516)cGc>cAc	p.R172H	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	172	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GTGGAACTTGCGGAACAAATG	0.597													5	243					0	0	0	0	T	32975186	C	T	32975186	3	4	451	1	0	0	0	0	1	0	0	0	7250	768	27	1	249	1	HLA-DOA	6	32975186	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	345348	32975186	138139881	115	88173											
TAPBP	6892	broad.mit.edu	37	chr6	33271721	33271721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaaagatacagagaggtgGagcactgtaccttctttgaa	13	9	13	6	0	1	3	0	1	1	2	1	6	1	5	1	3	3	2	1	3	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:33271721G>A	ENST00000426633.2	-	7	1516	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000456592.2_Intron|TAPBP_ENST00000434618.2_Intron|TAPBP_ENST00000475304.1_Intron	NM_172208.2	NP_757345.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CAGAGAGGTGGAGCACTGTAC	0.517													9	88					0	0	0	0	A	33271721	G	A	33271721	3	1	451	1	0	0	0	0	1	0	0	0	15643	1174	41	2	188	2	TAPBP	6	33271721	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	296535	33271721	137843346	116	88174											
ITPR3	3710	broad.mit.edu	37	chr6	33638303	33638303	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagctggtcacgccggtCaagtttgcccgtctctggac	6	9	13	13	3	3	0	2	0	1	0	4	2	3	2	2	4	2	2	2	4	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:33638303C>G	ENST00000374316.5	+	20	3451	c.2391C>G	c.(2389-2391)gtC>gtG	p.V797V	ITPR3_ENST00000605930.1_Silent_p.V797V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	797					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCACGCCGGTCAAGTTTGCCC	0.652													17	129					0	0	0	0	G	33638303	C	G	33638303	2	3	451	1	0	0	0	0	0	0	0	1	7975	813	29	2		2	ITPR3	6	33638303	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	366582	33638303	137476764	117	88175											
KIF6	221458	broad.mit.edu	37	chr6	39580967	39580967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagagaagtttattacctCtgcaatcattcggttggtgt	10	14	10	7	1	2	2	1	0	1	2	3	3	2	2	1	2	2	3	1	2	4	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:39580967C>T	ENST00000287152.7	-	6	731	c.637G>A	c.(637-639)Gag>Aag	p.E213K	KIF6_ENST00000538893.1_Missense_Mutation_p.E213K|KIF6_ENST00000373216.3_Missense_Mutation_p.E213K|KIF6_ENST00000373215.3_Missense_Mutation_p.E213K|KIF6_ENST00000373213.4_Missense_Mutation_p.E52K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	213	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTATTACCTCTGCAATCATT	0.378													4	41					0	0	0	0	T	39580967	C	T	39580967	3	4	451	1	0	0	0	0	1	0	0	0	8359	922	32	2	1879	2	KIF6	6	39580967	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5942664	39580967	131534100	118	88176											
MEA1	4201	broad.mit.edu	37	chr6	42980718	42980718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctgtagctccctcctcatCttcatcttcactctctaatg	6	15	4	16	1	6	0	3	0	3	0	9	0	8	0	2	0	1	3	2	0	2	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:42980718C>G	ENST00000244711.3	-	3	506	c.352G>C	c.(352-354)Gat>Cat	p.D118H		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	118					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCTCCTCATCTTCATCTTCA	0.483													16	153					0	0	0	0	G	42980718	C	G	42980718	3	3	451	1	0	0	0	0	1	0	0	0	9489	913	32	2	213	2	MEA1	6	42980718	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3399751	42980718	128134349	119	88177											
CUL9	23113	broad.mit.edu	37	chr6	43172163	43172163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaacagagagagacctctCggaaccccttgagtcgagca	13	6	11	11	2	1	4	0	1	1	3	3	8	1	5	3	1	3	1	3	1	3	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:43172163C>T	ENST00000252050.4	+	21	4309	c.4225C>T	c.(4225-4227)Cgg>Tgg	p.R1409W	CUL9_ENST00000372647.2_Missense_Mutation_p.R1409W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1299W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1409					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGAGACCTCTCGGAACCCCTT	0.572													34	170					0	0	0	0	T	43172163	C	T	43172163	3	4	451	1	0	0	0	0	1	0	0	0	4093	875	31	1	4303	1	CUL9	6	43172163	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	191445	43172163	127942904	120	88178											
PLA2G7	7941	broad.mit.edu	37	chr6	46679238	46679238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcactgcaatgtacctgctCatttcgtatatgtgtctcct	7	17	6	11	1	3	0	2	0	1	0	5	0	3	0	2	0	3	4	2	0	4	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:46679238C>G	ENST00000274793.7	-	7	854	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	PLA2G7_ENST00000538237.1_Missense_Mutation_p.E175Q|PLA2G7_ENST00000541026.1_Missense_Mutation_p.E93Q|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E220Q	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	220					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGTACCTGCTCATTTCGTATA	0.408													5	135					0	0	0	0	G	46679238	C	G	46679238	3	3	451	1	0	0	0	0	1	0	0	0	12081	835	29	2	691	2	PLA2G7	6	46679238	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3507075	46679238	124435829	121	88179											
DST	667	broad.mit.edu	37	chr6	56438649	56438649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatttcgttcattaacaGacttggacagatcctcatat	11	16	5	9	1	3	2	3	0	0	2	5	3	4	3	1	1	1	1	1	1	2	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:56438649G>C	ENST00000370754.5	-	51	12970	c.12971C>G	c.(12970-12972)tCt>tGt	p.S4324C	DST_ENST00000421834.2_Missense_Mutation_p.S2058C|DST_ENST00000312431.6_Missense_Mutation_p.S4144C|DST_ENST00000370788.2_Missense_Mutation_p.S2058C|DST_ENST00000244364.6_Missense_Mutation_p.S1732C|DST_ENST00000370769.4_Missense_Mutation_p.S4146C|DST_ENST00000446842.2_Missense_Mutation_p.S3820C|DST_ENST00000361203.3_Missense_Mutation_p.S4144C			Q03001	DYST_HUMAN	dystonin	4144					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATTAACAGACTTGGACAG	0.418													10	39					0	0	0	0	C	56438649	G	C	56438649	3	2	451	1	0	0	0	0	1	0	0	0	4819	942	33	2	10532	2	DST	6	56438649	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9759411	56438649	114676418	122	88180											
IBTK	25998	broad.mit.edu	37	chr6	82943951	82943951	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacaagccttctttatcttGaatatacagactaacaccat	14	13	4	10	0	2	3	0	2	2	1	2	3	2	3	2	0	3	0	2	0	6	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:82943951G>A	ENST00000306270.7	-	3	892	c.343C>T	c.(343-345)Caa>Taa	p.Q115*	IBTK_ENST00000510291.1_Nonsense_Mutation_p.Q115*|IBTK_ENST00000503631.1_Nonsense_Mutation_p.Q115*	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	115					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTTTATCTTGAATATACAGA	0.289													11	73					0	0	0	0	A	82943951	G	A	82943951	4	1	451	1	0	0	0	0	0	1	0	0	7529	1299	45	2	3826	2	IBTK	6	82943951	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	26505302	82943951	88171116	123	88181											
PRDM1	639	broad.mit.edu	37	chr6	106553064	106553064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgcaagaagcagcccCgaccaaagcctcaagagctc	12	4	8	17	1	2	2	1	0	1	2	3	3	2	2	5	0	5	3	5	0	4	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:106553064C>T	ENST00000369096.4	+	5	1263	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	PRDM1_ENST00000369091.2_Silent_p.P307P|PRDM1_ENST00000369089.3_Silent_p.P209P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	343					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GAAGCAGCCCCGACCAAAGCC	0.617			"D, N, Mis, F, S"		DLBCL								12	109					0	0	0	0	T	106553064	C	T	106553064	2	4	451	1	0	0	0	0	0	0	0	1	12530	639	23	1		1	PRDM1	6	106553064	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	23609113	106553064	64562003	124	88182											
AIM1	202	broad.mit.edu	37	chr6	106968853	106968853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacaagacaaaatcttttCtccttctgtgacatcagtca	13	12	4	12	0	5	2	2	1	3	1	6	2	5	2	2	0	0	0	2	0	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:106968853C>G	ENST00000369066.3	+	2	3033	c.2546C>G	c.(2545-2547)tCt>tGt	p.S849C		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	849							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAATCTTTTCTCCTTCTGTG	0.438													10	77					0	0	0	0	G	106968853	C	G	106968853	3	3	451	1	0	0	0	0	1	0	0	0	430	913	32	2	2552	2	AIM1	6	106968853	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	415789	106968853	64146214	125	88183											
QRSL1	55278	broad.mit.edu	37	chr6	107100173	107100173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaagctatggcttagtttCccgtcatggtctcattcccc	7	13	7	14	1	2	0	2	0	1	0	5	0	4	0	4	2	1	3	4	2	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:107100173C>T	ENST00000369046.4	+	6	751	c.647C>T	c.(646-648)tCc>tTc	p.S216F	QRSL1_ENST00000369044.1_Missense_Mutation_p.S216F	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	216					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GGCTTAGTTTCCCGTCATGGT	0.448													8	71					0	0	0	0	T	107100173	C	T	107100173	3	4	451	1	0	0	0	0	1	0	0	0	12963	855	30	2	669	2	QRSL1	6	107100173	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	131320	107100173	64014894	126	88184											
MAP3K4	4216	broad.mit.edu	37	chr6	161470317	161470317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaagattgtaggttactCaacacatcatgagcatctcc	15	10	6	10	0	3	2	2	1	1	1	4	2	3	2	1	1	4	3	1	1	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:161470317C>T	ENST00000392142.4	+	3	1161	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S338L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S338L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S338L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	338					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTAGGTTACTCAACACATCAT	0.443													17	76					0	0	0	0	T	161470317	C	T	161470317	3	4	451	1	0	0	0	0	1	0	0	0	9321	838	29	2	1023	2	MAP3K4	6	161470317	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	54370144	161470317	9644750	127	88185											
CYP2W1	54905	broad.mit.edu	37	chr7	1028135	1028135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagctccgcctgccgcctCtgcacccacctcctgatctc	4	8	6	23	2	2	1	0	1	2	0	5	1	4	1	8	0	3	2	8	0	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:1028135C>T	ENST00000340150.6	+	8	1220	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	CYP2W1_ENST00000308919.7_Intron			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	0					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCTGCCGCCTCTGCACCCACC	0.716													4	13					0	0	0	0	T	1028135	C	T	1028135	2	4	451	1	0	0	0	0	0	0	0	1	4208	928	32	2		2	CYP2W1	7	1028135	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		1028135	158110528	128	88186											
TMEM184A	202915	broad.mit.edu	37	chr7	1586684	1586684	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggtgccgggcctgggCgcctcgtgcgtggcctgctg	0	8	21	12	4	0	0	0	0	0	0	1	0	0	0	4	5	3	1	4	5	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:1586684C>T	ENST00000297477.5	-	9	1462	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	382						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CGGGCCTGGGCGCCTCGTGCG	0.697													4	68					0	0	0	0	T	1586684	C	T	1586684	2	4	451	1	0	0	0	0	0	0	0	1	16198	755	27	1		1	TMEM184A	7	1586684	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	558549	1586684	157551979	129	88187											
ACTB	60	broad.mit.edu	37	chr7	5567507	5567507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacacggagtacttgcgctCaggaggagcaatgatctgag	11	7	13	10	2	2	2	1	2	1	0	2	5	2	5	1	3	3	3	1	3	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:5567507C>T	ENST00000331789.5	-	6	1191	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	334					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TACTTGCGCTCAGGAGGAGCA	0.627													18	124					0	0	0	0	T	5567507	C	T	5567507	3	4	451	1	0	0	0	0	1	0	0	0	193	835	29	2	131	2	ACTB	7	5567507	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3980823	5567507	153571156	130	88188											
THSD7A	221981	broad.mit.edu	37	chr7	11468645	11468645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcacgcagccatttagaacGaaccttcacaccactcccac	12	8	4	17	2	2	1	2	0	0	1	3	2	3	1	4	0	3	1	4	0	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:11468645G>A	ENST00000423059.3	-	14	3423	c.3172C>T	c.(3172-3174)Cgt>Tgt	p.R1058C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1058	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATTTAGAACGAACCTTCACA	0.512										HNSCC(18;0.044)			50	292					0	0	0	0	A	11468645	G	A	11468645	3	1	451	1	0	0	0	0	1	0	0	0	15973	1058	37	1	1857	1	THSD7A	7	11468645	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5901138	11468645	147670018	131	88189											
ABCB5	340273	broad.mit.edu	37	chr7	20683120	20683120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatggtattggagataaGattgctctgttgtttcaaaa	12	15	11	3	0	2	3	1	1	1	2	2	4	2	3	0	2	1	4	0	2	4	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:20683120G>T	ENST00000404938.2	+	7	1195	c.543G>T	c.(541-543)aaG>aaT	p.K181N		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	367					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGGAGATAAGATTGCTCTGT	0.393													20	103					2.37509e-13	2.49499e-13	1	0	T	20683120	G	T	20683120	3	4	451	1	0	0	0	0	1	0	0	0	44	933	33	2	565	2	ABCB5	7	20683120	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9214475	20683120	138455543	132	88190											
DNAH11	8701	broad.mit.edu	37	chr7	21757447	21757447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatcagaaaaggccaatttGactattctttttgataaata	16	14	5	6	0	2	3	1	2	1	1	2	3	2	3	1	1	0	0	1	1	8	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:21757447G>C	ENST00000328843.6	+	44	7090	c.7059G>C	c.(7057-7059)ttG>ttC	p.L2353F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2346F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2353	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGCCAATTTGACTATTCTTT	0.398									Kartagener syndrome				11	69					0	0	0	0	C	21757447	G	C	21757447	3	2	451	1	0	0	0	0	1	0	0	0	4636	1281	45	2	7230	2	DNAH11	7	21757447	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1074327	21757447	137381216	133	88191											
CDK13	8621	broad.mit.edu	37	chr7	40027853	40027853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgaagataaagaagctGataggtaagtgcaaaaagta	18	8	11	4	0	0	4	0	2	0	2	0	4	0	4	1	1	3	4	1	1	9	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:40027853G>A	ENST00000181839.4	+	2	2472	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CDK13_ENST00000340829.5_Missense_Mutation_p.D623N|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	623					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAAAGAAGCTGATAGGTAAGT	0.423													12	39					0	0	0	0	A	40027853	G	A	40027853	3	1	451	1	0	0	0	0	1	0	0	0	3158	1290	45	2	1873	2	CDK13	7	40027853	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	18270406	40027853	119110810	134	88192											
STK17A	9263	broad.mit.edu	37	chr7	43635615	43635615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcggatggaaataattcatGagattgctgtacttgaacta	13	13	10	5	1	1	2	1	2	0	1	2	5	1	4	0	2	3	2	0	2	5	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43635615G>A	ENST00000319357.5	+	2	501	c.322G>A	c.(322-324)Gag>Aag	p.E108K	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	108	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AATAATTCATGAGATTGCTGT	0.348													15	83					0	0	0	0	A	43635615	G	A	43635615	3	1	451	1	0	0	0	0	1	0	0	0	15380	1291	45	2	328	2	STK17A	7	43635615	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3607762	43635615	115503048	135	88193											
URGCP	55665	broad.mit.edu	37	chr7	43918731	43918731	+	Missense_Mutation	SNP	G	G	A																															attccagggcaagtctttggGaacctgaggggcccagttct																										TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43918731G>A	ENST00000336086.6	-	4	2438	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	URGCP_ENST00000402306.3_Missense_Mutation_p.P102S|URGCP_ENST00000447717.3_Missense_Mutation_p.P68S|URGCP_ENST00000443736.1_Missense_Mutation_p.P68S|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.P111S|URGCP_ENST00000223341.7_Missense_Mutation_p.P68S|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	111					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGTCTTTGGGAACCTGAGGG	0.547													8	105					0	0	0	0	A	43918731	G	A	43918731	3	1	451	1	0	0	0	0	1	0	0	0	17122	1174	41	2	2468	2	URGCP	7	43918731	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	283116	43918731	115219932	136	88194	1093	2									
URGCP	55665	broad.mit.edu	37	chr7	43918732	43918732	+	Silent	SNP	A	A	C																															ttccagggcaagtctttgggAacctgaggggcccagttctt																										TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43918732A>C	ENST00000336086.6	-	4	2437	c.201T>G	c.(199-201)gtT>gtG	p.V67V	URGCP_ENST00000402306.3_Silent_p.V101V|URGCP_ENST00000447717.3_Silent_p.V67V|URGCP_ENST00000443736.1_Silent_p.V67V|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Silent_p.V110V|URGCP_ENST00000223341.7_Silent_p.V67V|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	110					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTCTTTGGGAACCTGAGGGG	0.542													9	109					0	0	0	0	C	43918732	A	C	43918732	2	2	451	1	0	0	0	0	0	0	0	1	17122	233	9	5		5	URGCP	7	43918732	Silent	SNP	A	TCGA-MT-A67F-01A-11D-A30E-08	1	43918732	115219931	137	88195	1093	2									
GUSB	2990	broad.mit.edu	37	chr7	65435343	65435343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaggatttggtgtgagCgatcaccatcctgtccacaa	10	10	10	11	1	1	1	1	1	0	0	4	3	4	2	4	2	1	0	4	2	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:65435343C>T	ENST00000304895.4	-	9	1532	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	GUSB_ENST00000345660.6_Missense_Mutation_p.A417T|GUSB_ENST00000421103.1_Missense_Mutation_p.A322T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	468					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGGTGTGAGCGATCACCATC	0.572													12	65					0	0	0	0	T	65435343	C	T	65435343	3	4	451	1	0	0	0	0	1	0	0	0	6952	768	27	1	569	1	GUSB	7	65435343	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	21516611	65435343	93703320	138	88196											
HIP1	3092	broad.mit.edu	37	chr7	75168658	75168658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaccttcttcccagccctCagcaacaccagcaagctcgt	9	9	5	18	1	2	0	1	0	1	0	4	0	3	0	4	0	6	3	4	0	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:75168658C>T	ENST00000336926.6	-	30	3072	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	HIP1_ENST00000434438.2_Missense_Mutation_p.E965K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1016					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCCCAGCCCTCAGCAACACCA	0.532			T	PDGFRB	CMML								23	457					0	0	0	0	T	75168658	C	T	75168658	3	4	451	1	0	0	0	0	1	0	0	0	7164	835	29	2	75	2	HIP1	7	75168658	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	9733315	75168658	83970005	139	88197											
HIP1	3092	broad.mit.edu	37	chr7	75216085	75216085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actcactttggtgtggtactCcatcttggttcttagcagtt	6	17	9	9	0	3	0	1	0	2	0	4	0	4	0	1	3	2	4	1	3	2	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:75216085C>G	ENST00000336926.6	-	5	477	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	HIP1_ENST00000434438.2_Missense_Mutation_p.E151Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	151	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGTGGTACTCCATCTTGGTT	0.572			T	PDGFRB	CMML								6	18					0	0	0	0	G	75216085	C	G	75216085	3	3	451	1	0	0	0	0	1	0	0	0	7164	864	30	2	2770	2	HIP1	7	75216085	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	47427	75216085	83922578	140	88198											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99128793	99128793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaatttcagaatattcaGaagcagacatggaactatct	18	10	7	6	0	3	4	2	0	1	4	3	5	3	5	0	1	2	1	0	1	7	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:99128793G>C	ENST00000394170.2	+	7	1692	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E481Q|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E481Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	481					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAATATTCAGAAGCAGACAT	0.338													10	262					0	0	0	0	C	99128793	G	C	99128793	3	2	451	1	0	0	0	0	1	0	0	0	17785	943	33	2	1463	2	ZKSCAN5	7	99128793	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	23912708	99128793	60009870	141	88199											
ACTL6B	51412	broad.mit.edu	37	chr7	100252740	100252740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggaagcactcccagtcctCgactggggccagaagagcag	10	5	13	13	2	0	2	0	0	0	2	4	4	2	3	3	3	2	2	3	3	2	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:100252740C>T	ENST00000160382.5	-	4	377	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	91					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCCAGTCCTCGACTGGGGCC	0.597													9	34					0	0	0	0	T	100252740	C	T	100252740	3	4	451	1	0	0	0	0	1	0	0	0	199	893	31	1	1053	1	ACTL6B	7	100252740	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1123947	100252740	58885923	142	88200											
CCDC136	64753	broad.mit.edu	37	chr7	128445932	128445932	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatgaggtgcttcggtttCagacctcccacagtgtcacc	9	10	10	12	1	2	3	2	1	0	2	4	3	3	3	3	2	1	2	3	2	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:128445932C>T	ENST00000297788.4	+	7	1433	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	CCDC136_ENST00000464832.1_Nonsense_Mutation_p.Q406*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.Q394*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.Q356*	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	356						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTTCGGTTTCAGACCTCCCA	0.612													9	38					0	0	0	0	T	128445932	C	T	128445932	4	4	451	1	0	0	0	0	0	1	0	0	2795	827	29	2	1092	2	CCDC136	7	128445932	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	28193192	128445932	30692731	143	88201											
CNOT4	4850	broad.mit.edu	37	chr7	135106925	135106925	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgggtctgctaggcgctGagataaacctacaacaaaga	13	8	10	10	1	2	2	0	1	2	2	2	3	2	2	1	2	4	2	1	2	6	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:135106925G>A	ENST00000428680.2	-	3	631	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	CNOT4_ENST00000356162.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.Q118*	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	118	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCTAGGCGCTGAGATAAACCT	0.368													14	77					0	0	0	0	A	135106925	G	A	135106925	4	1	451	1	0	0	0	0	0	1	0	0	3651	1299	45	2	1708	2	CNOT4	7	135106925	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	6660993	135106925	24031738	144	88202											
EPHA1	2041	broad.mit.edu	37	chr7	143091299	143091299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctcacctcctgattgctCatctccccataaggcttgtc	6	12	8	15	0	3	1	2	1	1	0	6	1	4	1	4	2	1	3	4	2	1	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:143091299C>G	ENST00000275815.3	-	15	2576	c.2490G>C	c.(2488-2490)atG>atC	p.M830I		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	830	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCTGATTGCTCATCTCCCCAT	0.512													7	161					0	0	0	0	G	143091299	C	G	143091299	3	3	451	1	0	0	0	0	1	0	0	0	5203	826	29	2	456	2	EPHA1	7	143091299	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	7984374	143091299	16047364	145	88203											
PAXIP1	22976	broad.mit.edu	37	chr7	154767968	154767968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcctttttggttttctctGatacgcaatccagaacccag	8	14	7	12	2	1	2	0	1	1	1	4	2	3	2	3	1	2	2	3	1	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:154767968G>A	ENST00000404141.1	-	6	666	c.512C>T	c.(511-513)tCa>tTa	p.S171L	PAXIP1_ENST00000397192.1_Missense_Mutation_p.S171L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	171	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGTTTTCTCTGATACGCAATC	0.403													16	79					0	0	0	0	A	154767968	G	A	154767968	3	1	451	1	0	0	0	0	1	0	0	0	11558	1294	45	2	2761	2	PAXIP1	7	154767968	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	11676669	154767968	4370695	146	88204											
MYOM2	9172	broad.mit.edu	37	chr8	2020512	2020512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggagggaaggcgagaCggtcactctcaagtgcacca	11	6	13	11	2	3	1	3	0	1	1	4	4	3	3	1	4	1	1	1	4	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:2020512C>T	ENST00000262113.4	+	9	1022	c.881C>T	c.(880-882)aCg>aTg	p.T294M	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	294	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.T294M(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)		GAAGGCGAGACGGTCACTCTC	0.607													11	56					0	0	0	0	T	2020512	C	T	2020512	3	4	451	1	0	0	0	0	1	0	0	0	10162	536	19	1	911	1	MYOM2	8	2020512	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		2020512	144343510	147	88205											
RP1L1	94137	broad.mit.edu	37	chr8	10468885	10468885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggcactgcttctccttGatgcccctgaattggggcct	4	12	12	13	0	1	2	0	2	1	0	2	2	1	2	4	4	2	3	4	4	1	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:10468885G>A	ENST00000382483.3	-	4	2946	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	908					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTTCTCCTTGATGCCCCTGA	0.711													5	22					0	0	0	0	A	10468885	G	A	10468885	3	1	451	1	0	0	0	0	1	0	0	0	13618	1294	45	2	4483	2	RP1L1	8	10468885	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	8448373	10468885	135895137	148	88206											
XKR6	286046	broad.mit.edu	37	chr8	10755636	10755636	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggcatgtcaatcttaatGaggggcccttctgggaggta	8	12	13	8	0	3	1	1	1	2	0	3	2	3	2	1	5	0	2	1	5	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:10755636G>C	ENST00000416569.2	-	3	1778	c.1752C>G	c.(1750-1752)ctC>ctG	p.L584L	XKR6_ENST00000304437.2_Silent_p.L305L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	584						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CAATCTTAATGAGGGGCCCTT	0.522													11	71					0	0	0	0	C	10755636	G	C	10755636	2	2	451	1	0	0	0	0	0	0	0	1	17531	1277	45	2		2	XKR6	8	10755636	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	286751	10755636	135608386	149	88207											
CHMP7	91782	broad.mit.edu	37	chr8	23115565	23115565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtaaagaagaagcccgcCgggcatgccgagcaggaaag	13	3	16	9	3	0	2	0	0	0	2	0	4	0	3	3	3	3	3	3	3	5	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:23115565C>T	ENST00000397677.1	+	6	1459	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.R271W	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	271					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGAAGCCCGCCGGGCATGCCG	0.572													15	142					0	0	0	0	T	23115565	C	T	23115565	3	4	451	1	0	0	0	0	1	0	0	0	3390	643	23	1	829	1	CHMP7	8	23115565	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	12359929	23115565	123248457	150	88208											
TM2D2	83877	broad.mit.edu	37	chr8	38853766	38853766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaccggagagtgggggtCgccatattcccagctcgcag	8	7	15	11	3	0	2	0	1	0	1	3	4	1	2	3	3	1	2	3	3	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:38853766C>T	ENST00000456397.2	-	1	286	c.193G>A	c.(193-195)Gac>Aac	p.D65N	TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000456845.2_Intron|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000397070.2_5'UTR	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	65						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GAGTGGGGGTCGCCATATTCC	0.642													6	75					0	0	0	0	T	38853766	C	T	38853766	3	4	451	1	0	0	0	0	1	0	0	0	16058	884	31	1	565	1	TM2D2	8	38853766	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	15738201	38853766	107510256	151	88209											
CHMP4C	92421	broad.mit.edu	37	chr8	82667666	82667666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaacaggatatcgcccaaGaaatctcagaagcattttct	15	9	7	10	1	2	2	1	0	2	2	4	3	2	3	1	1	3	2	1	1	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:82667666G>A	ENST00000297265.4	+	3	623	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	144	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TATCGCCCAAGAAATCTCAGA	0.378													20	97					0	0	0	0	A	82667666	G	A	82667666	3	1	451	1	0	0	0	0	1	0	0	0	3387	943	33	2	440	2	CHMP4C	8	82667666	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	43813900	82667666	63696356	152	88210											
SNX16	64089	broad.mit.edu	37	chr8	82752106	82752106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctaactggcccttagaaGaatttgagcttgttgagaca	11	13	9	8	0	1	4	0	2	1	3	1	5	1	4	1	1	2	2	1	1	4	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:82752106G>A	ENST00000396330.2	-	3	622	c.116C>T	c.(115-117)tCt>tTt	p.S39F	SNX16_ENST00000353788.4_Missense_Mutation_p.S39F|SNX16_ENST00000345957.4_Missense_Mutation_p.S39F	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	39					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GCCCTTAGAAGAATTTGAGCT	0.398													19	108					0	0	0	0	A	82752106	G	A	82752106	3	1	451	1	0	0	0	0	1	0	0	0	14975	942	33	2	946	2	SNX16	8	82752106	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	84440	82752106	63611916	153	88211											
CCNE2	9134	broad.mit.edu	37	chr8	95906442	95906442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagataatgttaccttcgtCttgacattctcttctttcag	9	17	5	10	1	4	2	1	1	3	1	6	2	4	2	1	0	1	1	1	0	2	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:95906442C>T	ENST00000520509.1	-	2	260	c.8G>A	c.(7-9)aGa>aAa	p.R3K	CCNE2_ENST00000396133.3_Missense_Mutation_p.R3K|CCNE2_ENST00000308108.4_Missense_Mutation_p.R3K			O96020	CCNE2_HUMAN	cyclin E2	3					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTACCTTCGTCTTGACATTCT	0.388													36	268					0	0	0	0	T	95906442	C	T	95906442	3	4	451	1	0	0	0	0	1	0	0	0	2950	913	32	2	1250	2	CCNE2	8	95906442	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	13154336	95906442	50457580	154	88212											
UBR5	51366	broad.mit.edu	37	chr8	103279210	103279210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagtctactaatccaagatCcaggatactatcagctccat	13	10	7	11	0	2	1	1	0	1	1	5	3	5	3	3	2	3	1	3	2	5	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:103279210C>G	ENST00000520539.1	-	52	7993	c.7387G>C	c.(7387-7389)Gat>Cat	p.D2463H	UBR5_ENST00000220959.4_Missense_Mutation_p.D2463H|UBR5_ENST00000521922.1_Missense_Mutation_p.D2457H|UBR5_ENST00000518205.1_Missense_Mutation_p.D192H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2463	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATCCAAGATCCAGGATACTA	0.318													23	158					0	0	0	0	G	103279210	C	G	103279210	3	3	451	1	0	0	0	0	1	0	0	0	17001	855	30	2	1044	2	UBR5	8	103279210	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	7372768	103279210	43084812	155	88213											
CSMD3	114788	broad.mit.edu	37	chr8	113353843	113353843	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataacagtactagtttctGaggatccacttcgtacttcc	11	13	6	11	1	1	1	0	1	1	0	4	2	3	2	2	1	3	3	2	1	5	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:113353843G>T	ENST00000297405.5	-	42	6759	c.6515C>A	c.(6514-6516)tCa>tAa	p.S2172*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S2102*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S2132*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S2068*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2172	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTAGTTTCTGAGGATCCACT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	48					0.00829132	0.00834863	1	0	T	113353843	G	T	113353843	4	4	451	1	0	0	0	0	0	1	0	0	3978	1294	45	2	4728	2	CSMD3	8	113353843	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	10074633	113353843	33010179	156	88214											
TAF2	6873	broad.mit.edu	37	chr8	120768299	120768299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcttcattgcataagggaGactccatgttcttagtaaat	11	13	10	7	0	2	1	1	0	1	1	3	2	3	1	1	2	1	4	1	2	4	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:120768299G>A	ENST00000378164.2	-	22	3123	c.2825C>T	c.(2824-2826)tCt>tTt	p.S942F	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	942					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCATAAGGGAGACTCCATGTT	0.328													7	54					0	0	0	0	A	120768299	G	A	120768299	3	1	451	1	0	0	0	0	1	0	0	0	15615	942	33	2	794	2	TAF2	8	120768299	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7414456	120768299	25595723	157	88215											
MTBP	27085	broad.mit.edu	37	chr8	121528344	121528344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctggaagtgtccctgacgGagaagttttacaaaatgaac	13	10	10	8	1	0	3	0	2	0	1	2	5	2	4	2	2	2	1	2	2	6	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:121528344G>C	ENST00000305949.1	+	18	2204	c.2159G>C	c.(2158-2160)gGa>gCa	p.G720A		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	720	Interaction with MDM2 (By similarity).				cell cycle arrest			p.G720E(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)			GTCCCTGACGGAGAAGTTTTA	0.418													24	104					0	0	0	0	C	121528344	G	C	121528344	3	2	451	1	0	0	0	0	1	0	0	0	9982	1174	41	2	2229	2	MTBP	8	121528344	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	760045	121528344	24835678	158	88216											
KCNK9	51305	broad.mit.edu	37	chr8	140631230	140631230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtagcgcacgaaggtgttCatgcgctcgcccaggctctg	7	8	14	12	4	2	0	1	0	1	0	3	1	2	0	1	3	2	5	1	3	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:140631230C>T	ENST00000520439.1	-	2	459	c.396G>A	c.(394-396)atG>atA	p.M132I	KCNK9_ENST00000303015.1_Missense_Mutation_p.M132I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	132						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGAAGGTGTTCATGCGCTCGC	0.582													5	49					0	0	0	0	T	140631230	C	T	140631230	3	4	451	1	0	0	0	0	1	0	0	0	8125	826	29	2	732	2	KCNK9	8	140631230	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	19102886	140631230	5732792	159	88217											
TRAPPC9	83696	broad.mit.edu	37	chr8	141321381	141321381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggtgaagggcaccggtgGcagggtgaggccgccaggga	7	5	20	9	2	0	2	0	2	0	0	0	3	0	3	3	7	0	2	3	7	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:141321381G>A	ENST00000389328.4	-	10	1896	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P530S|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P521S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	530					cell differentiation	endoplasmic reticulum|Golgi apparatus				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						GGCACCGGTGGCAGGGTGAGG	0.592													5	50					0	0	0	0	A	141321381	G	A	141321381	3	1	451	1	0	0	0	0	1	0	0	0	16560	1203	42	4	1914	4	TRAPPC9	8	141321381	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	690151	141321381	5042641	160	88218											
OPLAH	26873	broad.mit.edu	37	chr8	145111064	145111064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccacctgttactgtcgatGatgaggcagggcccatggag	8	8	14	11	1	0	2	0	2	0	0	1	4	0	3	3	3	1	2	3	3	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:145111064G>A	ENST00000426825.1	-	15	2163	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	694							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TACTGTCGATGATGAGGCAGG	0.637													14	72					0	0	0	0	A	145111064	G	A	145111064	2	1	451	1	0	0	0	0	0	0	0	1	10947	1280	45	2		2	OPLAH	8	145111064	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3789683	145111064	1252958	161	88219											
ACO1	48	broad.mit.edu	37	chr9	32407278	32407278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcgcttaccattttcgatCagagttcttctggaagcagc	8	12	11	10	2	3	1	1	0	2	1	4	3	3	2	1	2	3	3	1	2	2	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:32407278C>G	ENST00000379923.1	+	4	323	c.117C>G	c.(115-117)atC>atG	p.I39M	ACO1_ENST00000309951.5_Missense_Mutation_p.I39M|ACO1_ENST00000541043.1_5'UTR	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	39					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CATTTTCGATCAGAGTTCTTC	0.383													20	143					0	0	0	0	G	32407278	C	G	32407278	3	3	451	1	0	0	0	0	1	0	0	0	146	816	29	2	123	2	ACO1	9	32407278	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		32407278	108806153	162	88220											
TAF1L	138474	broad.mit.edu	37	chr9	32631191	32631191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagatgctctctgaactCttcccgagatgggtagaggc	8	10	11	12	1	2	4	0	1	2	3	5	5	4	4	2	2	2	2	2	2	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:32631191C>T	ENST00000242310.4	-	1	4476	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1463	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTCTGAACTCTTCCCGAGAT	0.448													89	182					0	0	0	0	T	32631191	C	T	32631191	3	4	451	1	0	0	0	0	1	0	0	0	15614	922	32	2	1097	2	TAF1L	9	32631191	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	223913	32631191	108582240	163	88221											
SMU1	55234	broad.mit.edu	37	chr9	33056843	33056843	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttacttacctaattgtCtggtcaaaagaagcactaag	14	14	6	7	0	2	1	1	0	1	1	2	1	2	1	1	1	3	1	1	1	7	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:33056843C>G	ENST00000397149.3	-	8	1037	c.987G>C	c.(985-987)caG>caC	p.Q329H	SMU1_ENST00000536631.1_Missense_Mutation_p.Q168H	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	329						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ACCTAATTGTCTGGTCAAAAG	0.413													8	132					0	0	0	0	G	33056843	C	G	33056843	3	3	451	1	0	0	0	0	1	0	0	0	14905	912	32	2	574	2	SMU1	9	33056843	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	425652	33056843	108156588	164	88222											
OR2S2	56656	broad.mit.edu	37	chr9	35957488	35957488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaggaagatcacattcGtcacctccatgctgatcaca	11	10	6	14	1	3	2	3	1	0	1	6	3	5	3	3	1	1	1	3	1	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:35957488G>A	ENST00000341959.2	-	1	663	c.608C>T	c.(607-609)aCg>aTg	p.T203M		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GATCACATTCGTCACCTCCAT	0.483													50	119					0	0	0	0	A	35957488	G	A	35957488	3	1	451	1	0	0	0	0	1	0	0	0	11086	1145	40	1	355	1	OR2S2	9	35957488	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2900645	35957488	105255943	165	88223											
FRMD3	257019	broad.mit.edu	37	chr9	85863132	85863132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgagcctccttcagctcctCttcttcagcaatcaaaaagg	10	10	7	14	1	5	0	3	0	2	0	7	1	7	0	3	1	3	2	3	1	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:85863132C>T	ENST00000304195.3	-	14	1701	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.E499K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E305K|FRMD3_ENST00000328788.1_Missense_Mutation_p.E156K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	499						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCAGCTCCTCTTCTTCAGCA	0.483													23	147					0	0	0	0	T	85863132	C	T	85863132	3	4	451	1	0	0	0	0	1	0	0	0	6098	922	32	2	302	2	FRMD3	9	85863132	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	49905644	85863132	55350299	166	88224											
SPTLC1	10558	broad.mit.edu	37	chr9	94830337	94830337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatataatggcttcttctgtCttcataaattttgccaggcg	9	17	7	8	1	4	0	1	0	3	0	4	0	4	0	1	2	1	1	1	2	5	9			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:94830337C>G	ENST00000262554.2	-	6	476	c.471G>C	c.(469-471)aaG>aaC	p.K157N	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	157						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTTCTTCTGTCTTCATAAATT	0.343													9	27					0	0	0	0	G	94830337	C	G	94830337	3	3	451	1	0	0	0	0	1	0	0	0	15213	912	32	2	990	2	SPTLC1	9	94830337	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	8967205	94830337	46383094	167	88225											
SPTLC1	10558	broad.mit.edu	37	chr9	94830360	94830360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataaattttgccaggcggtCttccaaatccaaatgaacat	14	11	6	10	1	1	1	0	1	1	0	3	1	3	1	3	2	2	0	3	2	5	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:94830360C>G	ENST00000262554.2	-	6	453	c.448G>C	c.(448-450)Gac>Cac	p.D150H	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	150						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCCAGGCGGTCTTCCAAATCC	0.338													3	21					0	0	0	0	G	94830360	C	G	94830360	3	3	451	1	0	0	0	0	1	0	0	0	15213	913	32	2	1013	2	SPTLC1	9	94830360	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	23	94830360	46383071	168	88226											
NCBP1	4686	broad.mit.edu	37	chr9	100413653	100413653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgaactaccacatagttGaggtatgaattccatgtgga	12	12	9	8	0	0	3	0	3	0	0	1	4	1	4	3	2	2	2	3	2	5	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:100413653G>A	ENST00000375147.3	+	10	1313	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	353					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CCACATAGTTGAGGTATGAAT	0.338													7	58					0	0	0	0	A	100413653	G	A	100413653	3	1	451	1	0	0	0	0	1	0	0	0	10281	1291	45	2	1095	2	NCBP1	9	100413653	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5583293	100413653	40799778	169	88227											
MAPKAP1	79109	broad.mit.edu	37	chr9	128321964	128321964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggagatgagtacttttCaaccagggccaaagtactga	14	8	10	9	0	1	3	1	2	0	1	1	4	1	3	3	2	3	2	3	2	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:128321964C>T	ENST00000265960.3	-	6	1128	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E74K|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E266K|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E74K|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E266K	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	266					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GAGTACTTTTCAACCAGGGCC	0.473													11	89					0	0	0	0	T	128321964	C	T	128321964	3	4	451	1	0	0	0	0	1	0	0	0	9357	835	29	2	818	2	MAPKAP1	9	128321964	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	27908311	128321964	12891467	170	88228											
SLC25A25	114789	broad.mit.edu	37	chr9	130830799	130830799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggacggcggcctgtgtgtCaacgacctggcggtggggct	4	7	19	11	5	1	0	1	0	0	0	1	2	1	1	2	7	1	1	2	7	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:130830799C>T	ENST00000373068.2	+	1	320	c.201C>T	c.(199-201)gtC>gtT	p.V67V	SLC25A25_ENST00000373069.5_Silent_p.V67V	NM_001006641.3	NP_001006642.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	100	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GCCTGTGTGTCAACGACCTGG	0.731													6	49					0	0	0	0	T	130830799	C	T	130830799	2	4	451	1	0	0	0	0	0	0	0	1	14576	813	29	2		2	SLC25A25	9	130830799	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2508835	130830799	10382632	171	88229											
ADAMTS13	11093	broad.mit.edu	37	chr9	136323123	136323123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggggctgccggctcttCattaatgtggctccgcacgc	5	9	14	13	3	2	0	1	0	1	0	3	0	3	0	2	4	1	5	2	4	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:136323123C>T	ENST00000371929.3	+	28	4428	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F	ADAMTS13_ENST00000371910.1_Silent_p.F124F|ADAMTS13_ENST00000355699.2_Silent_p.F1272F|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.F1241F	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1328	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCGGCTCTTCATTAATGTGG	0.612													4	79					0	0	0	0	T	136323123	C	T	136323123	2	4	451	1	0	0	0	0	0	0	0	1	258	825	29	2		2	ADAMTS13	9	136323123	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5492324	136323123	4890308	172	88230											
SLC39A12	221074	broad.mit.edu	37	chr10	18280209	18280209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatagaaaaatgttttattCttcttgtatcaccaaatgac	14	16	5	6	0	3	3	1	2	2	1	3	3	3	3	1	0	0	2	1	0	6	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:18280209C>G	ENST00000377369.2	+	8	1672	c.1399C>G	c.(1399-1401)Ctt>Gtt	p.L467V	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L467V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L467V|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L333V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	467					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			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						ATGTTTTATTCTTCTTGTATC	0.308													5	49					0	0	0	0	G	18280209	C	G	18280209	3	3	451	1	0	0	0	0	1	0	0	0	14703	913	32	2	1425	2	SLC39A12	10	18280209	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		18280209	117254538	173	88231											
MLLT10	8028	broad.mit.edu	37	chr10	22024158	22024158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttaaattctcaacagctCacaccagtaagttctttctt	11	16	4	10	0	4	0	2	0	3	0	5	0	4	0	1	0	2	4	1	0	4	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:22024158C>T	ENST00000377072.3	+	22	3345	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	MLLT10_ENST00000446906.2_Silent_p.L983L|MLLT10_ENST00000377059.3_Silent_p.L983L|MLLT10_ENST00000307729.7_Silent_p.L983L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	999					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCAACAGCTCACACCAGTAA	0.363			T	"MLL, PICALM, CDK6"	AL								17	124					0	0	0	0	T	22024158	C	T	22024158	2	4	451	1	0	0	0	0	0	0	0	1	9695	813	29	2		2	MLLT10	10	22024158	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3743949	22024158	113510589	174	88232											
C10orf53	282966	broad.mit.edu	37	chr10	50916500	50916500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaggatgaaagtttctcCtttgcaacagttcccacaaa	12	12	8	9	0	1	1	0	1	1	0	3	2	2	2	2	1	2	4	2	1	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:50916500C>T	ENST00000374112.3	+	3	323	c.311C>T	c.(310-312)cCt>cTt	p.P104L	C10orf53_ENST00000535836.1_Missense_Mutation_p.P104L	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				aaagtttctcctttgcaacag	0.493													14	170					0	0	0	0	T	50916500	C	T	50916500	3	4	451	1	0	0	0	0	1	0	0	0	1616	681	24	4	390	4	C10orf53	10	50916500	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	28892342	50916500	84618247	175	88233											
PCDH15	65217	broad.mit.edu	37	chr10	55721532	55721532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaaaaattgttgtaggttCttcattaagattgactcgtg	11	17	8	5	1	2	2	1	1	1	1	3	2	2	2	0	1	0	3	0	1	5	8			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:55721532C>T	ENST00000373965.2	-	23	3404	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	PCDH15_ENST00000361849.3_Missense_Mutation_p.E997K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E975K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E997K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E997K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E997K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1004K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E960K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1002K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E926K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E608K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	997	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGTAGGTTCTTCATTAAGA	0.343										HNSCC(58;0.16)			5	74					0	0	0	0	T	55721532	C	T	55721532	3	4	451	1	0	0	0	0	1	0	0	0	11582	922	32	2	4545	2	PCDH15	10	55721532	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	4805032	55721532	79813215	176	88234											
JMJD1C	221037	broad.mit.edu	37	chr10	64967345	64967345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattttgtgtgaacactgtCtgaattcacatttggcaaaa	13	14	8	6	0	2	3	1	2	1	1	2	3	2	3	0	1	1	1	0	1	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:64967345C>G	ENST00000399262.2	-	10	4302	c.4084G>C	c.(4084-4086)Gac>Cac	p.D1362H	JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1180H|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1143H|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1143H	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1362					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGAACACTGTCTGAATTCACA	0.413													22	124					0	0	0	0	G	64967345	C	G	64967345	3	3	451	1	0	0	0	0	1	0	0	0	8003	913	32	2	3606	2	JMJD1C	10	64967345	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	9245813	64967345	70567402	177	88235											
CDH23	64072	broad.mit.edu	37	chr10	73572567	73572567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgtcaagcctgatgatGaccgatacctgcgggctgcc	8	8	12	13	2	1	3	1	3	0	0	1	4	1	3	4	1	5	2	4	1	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:73572567G>A	ENST00000224721.6	+	67	9573	c.9568G>A	c.(9568-9570)Gac>Aac	p.D3190N	CDH23_ENST00000398788.3_Missense_Mutation_p.D945N|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3185					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCTGATGATGACCGATACCT	0.577													5	27					0	0	0	0	A	73572567	G	A	73572567	3	1	451	1	0	0	0	0	1	0	0	0	3137	1290	45	2	10239	2	CDH23	10	73572567	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	8605222	73572567	61962180	178	88236											
MINPP1	9562	broad.mit.edu	37	chr10	89265160	89265160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctggcgctgcgtctggcctCgctcttcccggcccttttca	1	12	11	17	4	3	0	1	0	2	0	5	0	4	0	3	3	1	3	3	3	0	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:89265160C>G	ENST00000371996.4	+	1	529	c.488C>G	c.(487-489)tCg>tGg	p.S163W	MINPP1_ENST00000371994.4_Missense_Mutation_p.S163W	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	163					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CGTCTGGCCTCGCTCTTCCCG	0.647											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	66					0	0	0	0	G	89265160	C	G	89265160	3	3	451	1	0	0	0	0	1	0	0	0	9657	893	31	3	490	3	MINPP1	10	89265160	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	15692593	89265160	46269587	179	88237											
PTEN	5728	broad.mit.edu	37	chr10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatatattcctccaattCaggacccacacgacgggaag	14	7	9	11	2	1	1	1	0	0	1	3	5	3	3	3	2	0	0	3	2	5	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:89717661C>A	ENST00000371953.3	+	7	2043	c.686C>A	c.(685-687)tCa>tAa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCTCCAATTCAGGACCCACA	0.423		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			13	119					2.27111e-07	2.34628e-07	1	0	A	89717661	C	A	89717661	4	1	451	1	0	0	0	0	0	1	0	0	12817	838	29	2	712	2	PTEN	10	89717661	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	452501	89717661	45817086	180	88238											
PLCE1	51196	broad.mit.edu	37	chr10	96006028	96006028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtacttaataacacagctGagcctggaaaattcccacta	14	10	7	10	0	0	1	0	1	0	0	1	2	1	2	2	1	4	2	2	1	6	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:96006028G>A	ENST00000260766.3	+	8	3380	c.2746G>A	c.(2746-2748)Gag>Aag	p.E916K	PLCE1_ENST00000371380.2_Missense_Mutation_p.E916K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E608K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E608K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	916					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACACAGCTGAGCCTGGAAA	0.507													18	81					0	0	0	0	A	96006028	G	A	96006028	3	1	451	1	0	0	0	0	1	0	0	0	12106	1291	45	2	3058	2	PLCE1	10	96006028	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	6288367	96006028	39528719	181	88239											
SEC31B	25956	broad.mit.edu	37	chr10	102249149	102249149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgggggcataaatgtctCtggcagctaaagagacagaa	13	8	13	7	0	1	2	0	0	1	2	2	3	1	2	0	3	2	4	0	3	5	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:102249149C>T	ENST00000370345.3	-	23	3128	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1011	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATAAATGTCTCTGGCAGCTAA	0.517													6	29					0	0	0	0	T	102249149	C	T	102249149	3	4	451	1	0	0	0	0	1	0	0	0	14086	922	32	2	524	2	SEC31B	10	102249149	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	6243121	102249149	33285598	182	88240											
PWWP2B	170394	broad.mit.edu	37	chr10	134219115	134219115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcgccggcgccctgtgcgGacggccctgccggtgggctg	1	6	18	16	6	0	0	0	0	0	0	1	1	0	1	4	5	2	2	4	5	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:134219115G>T	ENST00000305233.5	+	2	1170	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	PWWP2B_ENST00000368609.4_Missense_Mutation_p.D371Y	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	371										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCTGTGCGGACGGCCCTGC	0.692													16	112					1.02788e-11	1.07461e-11	1	0	T	134219115	G	T	134219115	3	4	451	1	0	0	0	0	1	0	0	0	12928	1174	41	2	1117	2	PWWP2B	10	134219115	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	31969966	134219115	1315632	183	88241											
NLRP6	171389	broad.mit.edu	37	chr11	285220	285220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagcttcaggctgtgaaGagagcaaagccggatctggt	11	7	15	8	1	2	2	1	1	1	1	2	5	2	4	1	4	3	3	1	4	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:285220G>C	ENST00000534750.1	+	8	2797	c.2592G>C	c.(2590-2592)aaG>aaC	p.K864N	NLRP6_ENST00000312165.5_Missense_Mutation_p.K865N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	865						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCTGTGAAGAGAGCAAAGC	0.612													4	14					0	0	0	0	C	285220	G	C	285220	3	2	451	1	0	0	0	0	1	0	0	0	10551	933	33	2	2625	2	NLRP6	11	285220	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		285220	134721296	184	88242											
TRIM5	85363	broad.mit.edu	37	chr11	5701271	5701271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctctcctttgtctagcatgGacttcttgtggtttgcagtg	4	18	10	9	0	3	0	0	0	3	0	5	1	4	1	1	2	2	3	1	2	1	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:5701271G>C	ENST00000305836.5	-	2	439	c.137C>G	c.(136-138)tCc>tGc	p.S46C	TRIM5_ENST00000396847.3_Missense_Mutation_p.S46C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S46C|TRIM5_ENST00000380034.3_Missense_Mutation_p.S46C|TRIM5_ENST00000380027.1_Missense_Mutation_p.S46C|TRIM5_ENST00000396853.4_Missense_Mutation_p.S46C			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	46					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTCTAGCATGGACTTCTTGTG	0.557													17	141					0	0	0	0	C	5701271	G	C	5701271	3	2	451	1	0	0	0	0	1	0	0	0	16620	1174	41	2	1611	2	TRIM5	11	5701271	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5416051	5701271	129305245	185	88243											
CCKBR	887	broad.mit.edu	37	chr11	6292373	6292373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgacggctcctgggccggGatccggctcccggcccaccc	3	5	14	19	4	0	1	0	1	0	0	3	2	3	2	6	5	0	3	6	5	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6292373G>A	ENST00000525462.1	+	4	1154	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	CCKBR_ENST00000334619.2_Missense_Mutation_p.G315E|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.G231E			P32239	GASR_HUMAN	cholecystokinin B receptor	315					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			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)	CCTGGGCCGGGATCCGGCTCC	0.632													13	116					0	0	0	0	A	6292373	G	A	6292373	3	1	451	1	0	0	0	0	1	0	0	0	2908	1174	41	2	962	2	CCKBR	11	6292373	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	591102	6292373	128714143	186	88244											
DNHD1	144132	broad.mit.edu	37	chr11	6524045	6524045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagcagcaccggcttttCacctgagacttccttcctgg	9	10	9	13	1	1	2	1	1	0	2	3	3	3	2	4	2	2	3	4	2	1	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6524045C>T	ENST00000254579.6	+	4	1373	c.809C>T	c.(808-810)tCa>tTa	p.S270L	DNHD1_ENST00000527990.2_Missense_Mutation_p.S270L|DNHD1_ENST00000354685.3_Missense_Mutation_p.S270L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	270					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCGGCTTTTCACCTGAGACT	0.488													10	74					0	0	0	0	T	6524045	C	T	6524045	3	4	451	1	0	0	0	0	1	0	0	0	4704	838	29	2	815	2	DNHD1	11	6524045	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	231672	6524045	128482471	187	88245											
DNHD1	144132	broad.mit.edu	37	chr11	6540947	6540947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggtacagcacaagcaactgGagcagaagctgaagcaagca	16	3	13	9	0	0	2	0	1	0	1	0	3	0	3	0	2	8	7	0	2	6	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6540947G>C	ENST00000254579.6	+	8	2074	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	DNHD1_ENST00000527990.2_Missense_Mutation_p.E504Q|DNHD1_ENST00000354685.3_Missense_Mutation_p.E504Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	504					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAAGCAACTGGAGCAGAAGCT	0.527													8	68					0	0	0	0	C	6540947	G	C	6540947	3	2	451	1	0	0	0	0	1	0	0	0	4704	1175	41	2	1532	2	DNHD1	11	6540947	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	16902	6540947	128465569	188	88246											
COPB1	1315	broad.mit.edu	37	chr11	14496058	14496058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacattttgctttttcttctCctgaaccaaagctacatagc	10	16	4	11	0	2	1	0	1	2	0	3	1	2	1	2	0	6	2	2	0	5	8			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:14496058C>T	ENST00000249923.3	-	14	2020	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	COPB1_ENST00000439561.2_Missense_Mutation_p.E574K|COPB1_ENST00000526191.1_5'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	574					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTTTTCTTCTCCTGAACCAAA	0.388													13	141					0	0	0	0	T	14496058	C	T	14496058	3	4	451	1	0	0	0	0	1	0	0	0	3758	864	30	2	1177	2	COPB1	11	14496058	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	7955111	14496058	120510458	189	88247											
PLEKHA7	144100	broad.mit.edu	37	chr11	16877399	16877399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcggtcccagccgtggatGtttcactgaccatgctggac	7	9	13	12	2	1	1	1	1	0	0	2	3	2	3	3	4	2	2	3	4	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:16877399G>A	ENST00000355661.3	-	5	378	c.368C>T	c.(367-369)aCa>aTa	p.T123I	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T123I|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T123I			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	123					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCCGTGGATGTTTCACTGAC	0.537													28	233					0	0	0	0	A	16877399	G	A	16877399	3	1	451	1	0	0	0	0	1	0	0	0	12133	1377	48	4	3073	4	PLEKHA7	11	16877399	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2381341	16877399	118129117	190	88248											
NAT10	55226	broad.mit.edu	37	chr11	34139817	34139817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccacgttgccaccatGgaggccctgcctccccagac	6	7	8	20	1	0	1	0	0	0	1	3	2	3	2	8	2	2	1	8	2	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:34139817G>A	ENST00000257829.3	+	7	854	c.648G>A	c.(646-648)atG>atA	p.M216I	NAT10_ENST00000531159.2_Missense_Mutation_p.M144I|NAT10_ENST00000527971.1_Missense_Mutation_p.M216I	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	216						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGCCACCATGGAGGCCCTGC	0.547													8	77					0	0	0	0	A	34139817	G	A	34139817	3	1	451	1	0	0	0	0	1	0	0	0	10244	1348	47	4	670	4	NAT10	11	34139817	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	17262418	34139817	100866699	191	88249											
OR4B1	119765	broad.mit.edu	37	chr11	48238785	48238785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgtcaactgtgtcaccttCtggtggctggttcctggctg	3	14	13	11	1	3	0	2	0	1	0	5	0	4	0	2	4	1	3	2	4	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:48238785C>T	ENST00000309562.2	+	1	442	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142M(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						GTGTCACCTTCTGGTGGCTGG	0.458													18	113					0	0	0	0	T	48238785	C	T	48238785	2	4	451	1	0	0	0	0	0	0	0	1	11115	912	32	2		2	OR4B1	11	48238785	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	14098968	48238785	86767731	192	88250											
CCDC86	79080	broad.mit.edu	37	chr11	60609623	60609623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaccgttaaggcgcagccGacggctgggaggcctaaggc	9	5	15	12	4	0	0	0	0	0	0	0	2	0	1	3	5	2	3	3	5	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:60609623G>A	ENST00000227520.5	+	1	80	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	9					interspecies interaction between organisms	nucleus		p.R9Q(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						AGGCGCAGCCGACGGCTGGGA	0.637													4	20					0	0	0	0	A	60609623	G	A	60609623	3	1	451	1	0	0	0	0	1	0	0	0	2888	1058	37	1	28	1	CCDC86	11	60609623	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	12370838	60609623	74396893	193	88251											
AHNAK	79026	broad.mit.edu	37	chr11	62287510	62287510	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctggaccttctcctttGaagccaggcatgctgaattt	9	13	8	11	0	2	2	0	2	2	0	3	3	2	3	3	2	2	2	3	2	2	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:62287510G>A	ENST00000378024.4	-	5	14653	c.14379C>T	c.(14377-14379)ttC>ttT	p.F4793F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4793					nervous system development	nucleus	protein binding			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)				CTTCTCCTTTGAAGCCAGGCA	0.517													53	341					0	0	0	0	A	62287510	G	A	62287510	2	1	451	1	0	0	0	0	0	0	0	1	414	1281	45	2		2	AHNAK	11	62287510	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1677887	62287510	72719006	194	88252											
GPHA2	170589	broad.mit.edu	37	chr11	64702545	64702545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccagcacagagtacCgagaagggaaggcgctggac	12	3	15	11	2	0	2	0	0	0	2	0	5	0	4	3	4	2	3	3	4	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:64702545C>T	ENST00000279168.2	-	3	260	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	GPHA2_ENST00000532246.1_Missense_Mutation_p.R69Q|GPHA2_ENST00000533257.1_Missense_Mutation_p.R69Q	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	69						extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|prostate(1)	3						CACAGAGTACCGAGAAGGGAA	0.622													27	113					0	0	0	0	T	64702545	C	T	64702545	3	4	451	1	0	0	0	0	1	0	0	0	6657	652	23	1	191	1	GPHA2	11	64702545	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2415035	64702545	70303971	195	88253											
SSSCA1	10534	broad.mit.edu	37	chr11	65338157	65338157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggagcggcaagatcgcatCtcccggctcatgggcgacta	8	6	14	13	5	2	1	1	0	1	1	4	3	2	2	1	4	1	3	1	4	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65338157C>T	ENST00000526877.1	+	2	107	c.102C>T	c.(100-102)atC>atT	p.I34I	SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000309328.3_Silent_p.I34I			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	34					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AAGATCGCATCTCCCGGCTCA	0.667													10	51					0	0	0	0	T	65338157	C	T	65338157	2	4	451	1	0	0	0	0	0	0	0	1	15285	903	32	2		2	SSSCA1	11	65338157	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	635612	65338157	69668359	196	88254											
C11orf68	83638	broad.mit.edu	37	chr11	65685289	65685289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttgaagcccggtgccaGatgcataagccacttgcccg	9	7	11	14	2	0	2	0	1	0	1	0	2	0	2	4	1	6	2	4	1	2	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65685289G>C	ENST00000438576.2	-	2	608	c.523C>G	c.(523-525)Ctg>Gtg	p.L175V	C11orf68_ENST00000530188.1_Missense_Mutation_p.L133V|C11orf68_ENST00000449692.3_Missense_Mutation_p.L174V			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	133										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CCCGGTGCCAGATGCATAAGC	0.662													5	44					0	0	0	0	C	65685289	G	C	65685289	3	2	451	1	0	0	0	0	1	0	0	0	1669	933	33	2	362	2	C11orf68	11	65685289	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	347132	65685289	69321227	197	88255											
SART1	9092	broad.mit.edu	37	chr11	65734019	65734019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccgaatacctcacgcctGaggagatggtgagccctccc	8	7	10	16	2	1	3	1	2	0	1	3	5	3	3	6	2	2	0	6	2	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65734019G>C	ENST00000312397.5	+	9	1272	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	394					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTCACGCCTGAGGAGATGGT	0.677													4	15					0	0	0	0	C	65734019	G	C	65734019	3	2	451	1	0	0	0	0	1	0	0	0	13932	1291	45	2	1214	2	SART1	11	65734019	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	48730	65734019	69272497	198	88256											
RNF121	55298	broad.mit.edu	37	chr11	71668297	71668297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgtcagatctctctccaGaagagcaatggaggtaagtg	13	10	11	7	0	3	3	1	0	2	3	5	4	3	4	1	2	1	2	1	2	4	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:71668297G>C	ENST00000361756.3	+	2	449	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Intron|RNF121_ENST00000530137.1_Intron|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	30						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCTCTCTCCAGAAGAGCAATG	0.438													13	93					0	0	0	0	C	71668297	G	C	71668297	3	2	451	1	0	0	0	0	1	0	0	0	13516	943	33	2	94	2	RNF121	11	71668297	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5934278	71668297	63338219	199	88257											
ATM	472	broad.mit.edu	37	chr11	108196176	108196176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggagatcctgatggaaaagGaaatggacaactcacaaaga	18	6	11	6	0	1	3	1	1	0	2	2	7	2	6	1	4	1	0	1	4	5	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:108196176G>C	ENST00000278616.4	+	46	7097	c.6712G>C	c.(6712-6714)Gaa>Caa	p.E2238Q	ATM_ENST00000452508.2_Missense_Mutation_p.E2238Q|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2238	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GATGGAAAAGGAAATGGACAA	0.423			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			12	88					0	0	0	0	C	108196176	G	C	108196176	3	2	451	1	0	0	0	0	1	0	0	0	1113	1175	41	2	6890	2	ATM	11	108196176	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	36527879	108196176	26810340	200	88258											
EXPH5	23086	broad.mit.edu	37	chr11	108384223	108384223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctggtcacagtgacttCtgtatggcttctcattggat	6	15	11	9	0	3	1	2	1	2	0	4	2	3	2	0	3	1	4	0	3	1	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:108384223C>T	ENST00000265843.4	-	6	2121	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	EXPH5_ENST00000428840.1_Missense_Mutation_p.E595K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.E483K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E664K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	671					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACAGTGACTTCTGTATGGCTT	0.433													9	88					0	0	0	0	T	108384223	C	T	108384223	3	4	451	1	0	0	0	0	1	0	0	0	5360	922	32	2	3962	2	EXPH5	11	108384223	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	188047	108384223	26622293	201	88259											
C11orf88	399949	broad.mit.edu	37	chr11	111386771	111386771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttattccctctagaaaataGagacatctttgccgaagccc	12	12	6	11	1	2	2	0	0	2	2	3	4	3	2	3	0	2	0	3	0	6	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:111386771G>C	ENST00000529167.1	+	3	275	c.275G>C	c.(274-276)aGa>aCa	p.R92T	RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.R92T|C11orf88_ENST00000332814.6_Missense_Mutation_p.R92T			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	92										endometrium(1)|large_intestine(3)|lung(2)	6						CTAGAAAATAGAGACATCTTT	0.318													11	80					0	0	0	0	C	111386771	G	C	111386771	3	2	451	1	0	0	0	0	1	0	0	0	1681	942	33	2	285	2	C11orf88	11	111386771	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3002548	111386771	23619745	202	88260											
SLC37A4	2542	broad.mit.edu	37	chr11	118895758	118895758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtgcttggcaatggtgctGaagggcagcccagccagaaa	11	7	14	9	0	0	2	0	1	0	1	0	2	0	2	2	3	4	4	2	3	4	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:118895758G>A	ENST00000545985.1	-	11	1908	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SLC37A4_ENST00000357590.5_Silent_p.F406F|TRAPPC4_ENST00000533058.1_Silent_p.*258*|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Silent_p.F311F|SLC37A4_ENST00000330775.7_Silent_p.F405F	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	384					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAATGGTGCTGAAGGGCAGCC	0.567													10	97					0	0	0	0	A	118895758	G	A	118895758	2	1	451	1	0	0	0	0	0	0	0	1	14688	1281	45	2		2	SLC37A4	11	118895758	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7508987	118895758	16110758	203	88261											
CCDC15	80071	broad.mit.edu	37	chr11	124857614	124857614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatattctgccaaaatatCaggaccagaattttctacct	15	12	5	9	0	3	2	1	0	2	2	3	3	3	3	3	1	2	0	3	1	7	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:124857614C>G	ENST00000529051.1	+	8	1751	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E	CCDC15_ENST00000344762.5_Missense_Mutation_p.Q498E			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	498						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GCCAAAATATCAGGACCAGAA	0.398													34	243					0	0	0	0	G	124857614	C	G	124857614	3	3	451	1	0	0	0	0	1	0	0	0	2809	827	29	2	1518	2	CCDC15	11	124857614	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5961856	124857614	10148902	204	88262											
RAD52	5893	broad.mit.edu	37	chr12	1036313	1036313	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagccccgcgctcacctGagggctcgcttcagcccgtc	4	7	10	20	4	2	1	2	1	0	0	5	1	3	1	5	1	2	3	5	1	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:1036313G>T	ENST00000358495.3	-	6	603	c.465C>A	c.(463-465)ctC>ctA	p.L155L	RAD52_ENST00000545564.1_Silent_p.L155L|RAD52_ENST00000430095.2_Silent_p.L155L|RAD52_ENST00000539046.1_Silent_p.L78L|RAD52_ENST00000536177.1_Silent_p.L155L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	155					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GCGCTCACCTGAGGGCTCGCT	0.512								Homologous recombination					23	195					6.32553e-13	6.62891e-13	1	0	T	1036313	G	T	1036313	2	4	451	1	0	0	0	0	0	0	0	1	13073	1277	45	2		2	RAD52	12	1036313	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		1036313	132815582	205	88263											
CACNA1C	775	broad.mit.edu	37	chr12	2602462	2602462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggatggtcccaagcaCggcatcaccaactttgacaa	11	7	11	12	1	1	1	1	1	0	0	2	2	2	2	2	4	2	3	2	4	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:2602462C>T	ENST00000399655.1	+	7	1288	c.1023C>T	c.(1021-1023)caC>caT	p.H341H	CACNA1C_ENST00000399591.1_Silent_p.H341H|CACNA1C_ENST00000399606.1_Silent_p.H341H|CACNA1C_ENST00000399644.1_Silent_p.H341H|CACNA1C_ENST00000347598.4_Silent_p.H341H|CACNA1C_ENST00000399603.1_Silent_p.H341H|CACNA1C_ENST00000399649.1_Silent_p.H341H|CACNA1C_ENST00000480911.1_Silent_p.H341H|CACNA1C_ENST00000399601.1_Silent_p.H341H|CACNA1C_ENST00000399629.1_Silent_p.H341H|CACNA1C_ENST00000399634.1_Silent_p.H341H|CACNA1C_ENST00000399637.1_Silent_p.H341H|CACNA1C_ENST00000402845.3_Silent_p.H341H|CACNA1C_ENST00000399621.1_Silent_p.H341H|CACNA1C_ENST00000327702.7_Silent_p.H341H|CACNA1C_ENST00000399597.1_Silent_p.H341H|CACNA1C_ENST00000399641.1_Silent_p.H341H|CACNA1C_ENST00000399595.1_Silent_p.H341H|CACNA1C_ENST00000406454.3_Silent_p.H341H|CACNA1C_ENST00000399617.1_Silent_p.H341H|CACNA1C_ENST00000335762.5_Silent_p.H341H|CACNA1C_ENST00000344100.3_Silent_p.H341H|CACNA1C_ENST00000399638.1_Silent_p.H341H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	341					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTCCCAAGCACGGCATCACCA	0.612													20	194					0	0	0	0	T	2602462	C	T	2602462	2	4	451	1	0	0	0	0	0	0	0	1	2565	535	19	1		1	CACNA1C	12	2602462	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1566149	2602462	131249433	206	88264											
IFFO1	25900	broad.mit.edu	37	chr12	6665011	6665011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgcggagggccatggcgGcaggcggggccgggcccggc	4	3	21	13	5	0	0	0	0	0	0	0	1	0	1	3	9	1	1	3	9	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:6665011G>A	ENST00000336604.4	-	1	226	c.185C>T	c.(184-186)gCc>gTc	p.A62V	IFFO1_ENST00000356896.4_Missense_Mutation_p.A62V|IFFO1_ENST00000396840.2_Missense_Mutation_p.A62V	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	62						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCCATGGCGGCAggcggggc	0.721													4	91					0	0	0	0	A	6665011	G	A	6665011	3	1	451	1	0	0	0	0	1	0	0	0	7563	1203	42	4	1546	4	IFFO1	12	6665011	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4062549	6665011	127186884	207	88265											
C1S	716	broad.mit.edu	37	chr12	7173187	7173187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctgggcctctaaatattGaaaccaagagtaatgctctt	12	12	7	10	0	2	2	0	1	2	1	3	2	3	2	3	1	2	2	3	1	6	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:7173187G>A	ENST00000406697.1	+	10	1412	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	C1S_ENST00000360817.5_Missense_Mutation_p.E262K|C1S_ENST00000328916.3_Missense_Mutation_p.E262K|C1S_ENST00000402681.3_Missense_Mutation_p.E95K			P09871	C1S_HUMAN	complement component 1, s subcomponent	262	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTAAATATTGAAACCAAGAG	0.413													16	92					0	0	0	0	A	7173187	G	A	7173187	3	1	451	1	0	0	0	0	1	0	0	0	1993	1291	45	2	806	2	C1S	12	7173187	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	508176	7173187	126678708	208	88266											
CLSTN3	9746	broad.mit.edu	37	chr12	7293930	7293930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctccttcgaccctgccctCatccatgacaatggcctcat	8	11	5	17	1	3	1	2	1	1	0	6	2	4	1	5	1	1	0	5	1	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:7293930C>T	ENST00000537408.1	+	8	1990	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	CLSTN3_ENST00000266546.6_Silent_p.L472L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	472					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCCTGCCCTCATCCATGACA	0.567											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	289					0	0	0	0	T	7293930	C	T	7293930	2	4	451	1	0	0	0	0	0	0	0	1	3593	813	29	2		2	CLSTN3	12	7293930	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	120743	7293930	126557965	209	88267											
FAM90A1	55138	broad.mit.edu	37	chr12	8375060	8375060	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcctgggggctgacggcctgGagcaggccgtgggttttgga	4	8	20	9	2	0	1	0	1	0	0	0	3	0	3	3	7	1	3	3	7	0	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:8375060G>C	ENST00000538603.1	-	7	1311	c.753C>G	c.(751-753)ctC>ctG	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662													9	158					0	0	0	0	C	8375060	G	C	8375060	2	2	451	1	0	0	0	0	0	0	0	1	5695	1161	41	2		2	FAM90A1	12	8375060	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1081130	8375060	125476835	210	88268											
DUSP16	80824	broad.mit.edu	37	chr12	12653598	12653598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggccagggaaacaacgaGagaactcagcaaacccacct	17	2	10	12	1	1	2	1	0	0	2	1	5	1	3	3	2	5	1	3	2	4	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:12653598G>C	ENST00000228862.2	-	4	1017	c.386C>G	c.(385-387)tCt>tGt	p.S129C	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_Intron	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	129	Rhodanese.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GAAACAACGAGAGAACTCAGC	0.413													6	47					0	0	0	0	C	12653598	G	C	12653598	3	2	451	1	0	0	0	0	1	0	0	0	4852	942	33	2	1627	2	DUSP16	12	12653598	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4278538	12653598	121198297	211	88269											
H2AFJ	55766	broad.mit.edu	37	chr12	14927629	14927629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgccgcgcgtgacaacaaGaagaccaggataattccccg	14	4	10	13	5	0	3	0	1	0	2	1	4	1	4	4	1	2	0	4	1	5	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:14927629G>C	ENST00000544848.1	+	1	360	c.225G>C	c.(223-225)aaG>aaC	p.K75N		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	75					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						GTGACAACAAGAAGACCAGGA	0.647													7	143					0	0	0	0	C	14927629	G	C	14927629	3	2	451	1	0	0	0	0	1	0	0	0	6976	933	33	2	227	2	H2AFJ	12	14927629	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2274031	14927629	118924266	212	88270											
PTPRO	5800	broad.mit.edu	37	chr12	15673221	15673221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaattgagctgctgtgaCagctctaccatcagcttcat	10	11	8	12	0	3	3	2	2	1	1	3	3	3	3	2	0	5	4	2	0	2	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:15673221C>T	ENST00000281171.4	+	10	2196	c.1866C>T	c.(1864-1866)gaC>gaT	p.D622D	PTPRO_ENST00000348962.2_Silent_p.D622D	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	622						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)				GCTGCTGTGACAGCTCTACCA	0.473													19	102					0	0	0	0	T	15673221	C	T	15673221	2	4	451	1	0	0	0	0	0	0	0	1	12891	477	17	4		4	PTPRO	12	15673221	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	745592	15673221	118178674	213	88271											
ARID2	196528	broad.mit.edu	37	chr12	46245376	46245376	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgccaggtccactgatctCaaatagcccagcaaccattt	12	10	6	13	0	1	1	1	1	1	0	3	1	2	1	4	1	4	1	4	1	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:46245376C>G	ENST00000334344.6	+	15	3642	c.3470C>G	c.(3469-3471)tCa>tGa	p.S1157*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1008*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S767*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1157					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCACTGATCTCAAATAGCCCA	0.478			"N, S, F"		hepatocellular carcinoma								21	125					0	0	0	0	G	46245376	C	G	46245376	4	3	451	1	0	0	0	0	0	1	0	0	917	838	29	2	3528	2	ARID2	12	46245376	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	30572155	46245376	87606519	214	88272											
C12orf68	387856	broad.mit.edu	37	chr12	48578122	48578122	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagcaggcctcgcacatcCaggtgctctcggacgacgtg	8	6	13	14	5	1	0	0	0	1	0	4	3	2	1	2	3	2	3	2	3	0	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:48578122C>T	ENST00000316554.3	+	1	757	c.217C>T	c.(217-219)Cag>Tag	p.Q73*		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	73						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTCGCACATCCAGGTGCTCTC	0.647													14	58					0	0	0	0	T	48578122	C	T	48578122	4	4	451	1	0	0	0	0	0	1	0	0	1722	595	21	4	219	4	C12orf68	12	48578122	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2332746	48578122	85273773	215	88273											
PRPF40B	25766	broad.mit.edu	37	chr12	50029170	50029170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcagaacagacctttgggGagctggaggtctgggctgtg	7	8	19	7	0	1	2	0	0	1	2	1	4	1	4	1	6	2	3	1	6	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:50029170G>A	ENST00000261897.1	+	13	1656	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	PRPF40B_ENST00000548825.2_Missense_Mutation_p.E397K|PRPF40B_ENST00000380281.1_Missense_Mutation_p.E375K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	375					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GACCTTTGGGGAGCTGGAGGT	0.532													22	164					0	0	0	0	A	50029170	G	A	50029170	3	1	451	1	0	0	0	0	1	0	0	0	12652	1175	41	2	1173	2	PRPF40B	12	50029170	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1451048	50029170	83822725	216	88274											
ACVRL1	94	broad.mit.edu	37	chr12	52314550	52314550	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaacccccaggtcctctCaggcctagctcagatgatgc	8	8	8	17	0	2	2	2	1	1	1	5	2	4	2	5	2	3	1	5	2	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:52314550C>G	ENST00000550683.1	+	9	1528	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.S288*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.S462*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	462	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGGTCCTCTCAGGCCTAGCT	0.582													5	45					0	0	0	0	G	52314550	C	G	52314550	4	3	451	1	0	0	0	0	0	1	0	0	225	838	29	2	1419	2	ACVRL1	12	52314550	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2285380	52314550	81537345	217	88275											
STAT6	6778	broad.mit.edu	37	chr12	57496615	57496615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggactttcctcaccatCtcagagaaggcattgtccca	10	10	7	14	0	2	1	2	0	1	1	6	3	5	2	4	2	0	1	4	2	1	2	rs11172101		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:57496615C>G	ENST00000300134.3	-	12	1627	c.1302G>C	c.(1300-1302)gaG>gaC	p.E434D	STAT6_ENST00000454075.3_Missense_Mutation_p.E434D|STAT6_ENST00000538913.2_Missense_Mutation_p.E324D|STAT6_ENST00000537215.2_Missense_Mutation_p.E324D|STAT6_ENST00000543873.2_Missense_Mutation_p.E434D|STAT6_ENST00000556155.1_Missense_Mutation_p.E434D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	434					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCCTCACCATCTCAGAGAAGG	0.562													5	53					0	0	0	0	G	57496615	C	G	57496615	3	3	451	1	0	0	0	0	1	0	0	0	15360	912	32	2	1285	2	STAT6	12	57496615	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5182065	57496615	76355280	218	88276											
USP15	9958	broad.mit.edu	37	chr12	62708577	62708577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcattattttaggtggttGaacagggtatgtttgtaaag	10	18	11	2	0	1	1	1	1	0	0	1	1	1	1	0	3	1	4	0	3	6	8			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:62708577G>C	ENST00000280377.5	+	4	413	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.E119Q|USP15_ENST00000353364.3_Missense_Mutation_p.E119Q|USP15_ENST00000312635.6_Missense_Mutation_p.E119Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	119					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTAGGTGGTTGAACAGGGTAT	0.303													25	270					0	0	0	0	C	62708577	G	C	62708577	3	2	451	1	0	0	0	0	1	0	0	0	17142	1291	45	2	369	2	USP15	12	62708577	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5211962	62708577	71143318	219	88277											
ZFC3H1	196441	broad.mit.edu	37	chr12	72020069	72020069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttgataatctggagcatAttcaacagctgtttcacaca	12	13	7	9	0	3	1	2	1	1	0	3	2	3	2	0	1	3	4	0	1	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:72020069A>G	ENST00000378743.3	-	22	4646	c.4288T>C	c.(4288-4290)Tat>Cat	p.Y1430H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1430					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTGGAGCATATTCAACAGCT	0.388													15	121					0	0	0	0	G	72020069	A	G	72020069	3	3	451	1	0	0	0	0	1	0	0	0	17728	449	16	5	1737	5	ZFC3H1	12	72020069	Missense_Mutation	SNP	A	TCGA-MT-A67F-01A-11D-A30E-08	9311492	72020069	61831826	220	88278											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100489501	100489501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgatttttctattgcttCactaagagactttgcatatt	9	20	6	6	0	2	2	1	1	1	1	2	3	2	2	0	0	2	3	0	0	3	10			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:100489501C>T	ENST00000279907.7	-	7	996	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.E262K	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	262										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCTATTGCTTCACTAAGAGAC	0.338													5	50					0	0	0	0	T	100489501	C	T	100489501	3	4	451	1	0	0	0	0	1	0	0	0	17065	835	29	2	3694	2	UHRF1BP1L	12	100489501	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	28469432	100489501	33362394	221	88279											
SYCP3	50511	broad.mit.edu	37	chr12	102131053	102131053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagaccttttcttcctacGtttctcaatgactgcagtct	9	15	6	11	1	3	3	1	1	3	2	5	3	4	3	2	0	2	2	2	0	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:102131053G>A	ENST00000392927.3	-	3	288	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	SYCP3_ENST00000266743.2_Missense_Mutation_p.R53C|SYCP3_ENST00000392924.1_Missense_Mutation_p.R53C	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	53					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCTTCCTACGTTTCTCAATG	0.303													4	161					0	0	0	0	A	102131053	G	A	102131053	3	1	451	1	0	0	0	0	1	0	0	0	15525	1145	40	1	581	1	SYCP3	12	102131053	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1641552	102131053	31720842	222	88280											
GNPTAB	79158	broad.mit.edu	37	chr12	102158185	102158185	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccagtggaacaatcagaGatgggggcttttcttttgtc	8	15	11	7	0	2	1	1	0	1	1	4	3	3	2	1	3	1	1	1	3	2	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:102158185G>C	ENST00000299314.7	-	13	2772	c.2510C>G	c.(2509-2511)tCt>tGt	p.S837C		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	837					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AACAATCAGAGATGGGGGCTT	0.418													35	191					0	0	0	0	C	102158185	G	C	102158185	3	2	451	1	0	0	0	0	1	0	0	0	6596	942	33	2	1296	2	GNPTAB	12	102158185	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	27132	102158185	31693710	223	88281											
IFT81	28981	broad.mit.edu	37	chr12	110630482	110630482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttgcctcagttataaaaGagctacgacagttgcgtcaa	12	11	8	10	2	3	1	2	0	1	1	3	2	3	1	1	0	4	3	1	0	5	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:110630482G>C	ENST00000242591.5	+	14	2034	c.1528G>C	c.(1528-1530)Gag>Cag	p.E510Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E510Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	510					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGTTATAAAAGAGCTACGACA	0.279													9	66					0	0	0	0	C	110630482	G	C	110630482	3	2	451	1	0	0	0	0	1	0	0	0	7618	943	33	2	1690	2	IFT81	12	110630482	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	8472297	110630482	23221413	224	88282											
MLXIP	22877	broad.mit.edu	37	chr12	122617979	122617979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaccgccccatccctggctCacatggatgagcagggctgt	7	8	11	15	1	1	1	1	1	0	0	2	2	2	2	4	3	2	3	4	3	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:122617979C>G	ENST00000319080.6	+	9	1309	c.1177C>G	c.(1177-1179)Cac>Gac	p.H393D	MLXIP_ENST00000538698.1_5'UTR			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	393	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATCCCTGGCTCACATGGATGA	0.622													10	61					0	0	0	0	G	122617979	C	G	122617979	3	3	451	1	0	0	0	0	1	0	0	0	9705	826	29	2	1211	2	MLXIP	12	122617979	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	11987497	122617979	11233916	225	88283											
RIMBP2	23504	broad.mit.edu	37	chr12	130883689	130883689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgcctgattaaggtgtGaaatgaacactcttcttctg	11	14	8	8	0	3	3	0	3	3	0	3	3	3	3	1	1	2	0	1	1	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:130883689G>T	ENST00000261655.4	-	19	3313	c.3150C>A	c.(3148-3150)ttC>ttA	p.F1050L		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1050						cell junction|synapse				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)		ATTAAGGTGTGAAATGAACAC	0.343													9	77					0.000442599	0.000450853	1	0	T	130883689	G	T	130883689	3	4	451	1	0	0	0	0	1	0	0	0	13446	1281	45	2	12	2	RIMBP2	12	130883689	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	8265710	130883689	2968206	226	88284											
NBEA	26960	broad.mit.edu	37	chr13	35615256	35615256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacagaagttgggctaattGaacaagtattgctgaaaatg	15	10	11	5	0	0	3	0	2	0	1	0	3	0	3	0	1	2	5	0	1	7	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:35615256G>A	ENST00000400445.3	+	2	1015	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	NBEA_ENST00000379939.2_Missense_Mutation_p.E161K|NBEA_ENST00000310336.4_Missense_Mutation_p.E161K|NBEA_ENST00000540320.1_Missense_Mutation_p.E161K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	161						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGGCTAATTGAACAAGTATT	0.368													5	48					0	0	0	0	A	35615256	G	A	35615256	3	1	451	1	0	0	0	0	1	0	0	0	10257	1291	45	2	487	2	NBEA	13	35615256	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		35615256	79554622	227	88285											
NBEA	26960	broad.mit.edu	37	chr13	35733543	35733543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgatatggatttatcaccgGagactttagtaggtggagag	12	12	13	4	1	1	3	1	1	0	2	1	6	1	4	1	4	0	1	1	4	4	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:35733543G>A	ENST00000400445.3	+	22	3769	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	NBEA_ENST00000379939.2_Missense_Mutation_p.E1079K|NBEA_ENST00000310336.4_Missense_Mutation_p.E1079K|NBEA_ENST00000540320.1_Missense_Mutation_p.E1079K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1079						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTATCACCGGAGACTTTAGT	0.398													6	45					0	0	0	0	A	35733543	G	A	35733543	3	1	451	1	0	0	0	0	1	0	0	0	10257	1175	41	2	3321	2	NBEA	13	35733543	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	118287	35733543	79436335	228	88286											
DCLK1	9201	broad.mit.edu	37	chr13	36401891	36401891	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcattctggatcatgtgctCctgtccaaaggaaaagttat	11	14	8	8	0	3	0	2	0	1	0	5	2	5	2	2	2	1	2	2	2	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:36401891C>T	ENST00000255448.4	-	10	1499	c.1287_splice	c.e10-1	p.E430_splice	DCLK1_ENST00000360631.3_Splice_Site_p.E430_splice|DCLK1_ENST00000379893.1_Splice_Site_p.E123_splice	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	430	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATCATGTGCTCCTGTCCAAAG	0.398													9	104					0	0	0	0	T	36401891	C	T	36401891	5	4	451	1	0	0	0	0	0	0	1	0	4323	869	30	2	937	2	DCLK1	13	36401891	Splice_Site	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	668348	36401891	78767987	229	88287											
MYCBP2	23077	broad.mit.edu	37	chr13	77635394	77635394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggttctaccacaaccttCatgaaggtcaacctttatag	11	14	6	10	0	3	1	2	1	1	0	3	1	3	1	3	2	3	1	3	2	6	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:77635394C>G	ENST00000407578.2	-	76	13212	c.12946G>C	c.(12946-12948)Gaa>Caa	p.E4316Q	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4278Q|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E4278Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCACAACCTTCATGAAGGTCA	0.373													9	41					0	0	0	0	G	77635394	C	G	77635394	3	3	451	1	0	0	0	0	1	0	0	0	10088	835	29	2	1122	2	MYCBP2	13	77635394	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	41233503	77635394	37534484	230	88288											
TMTC4	84899	broad.mit.edu	37	chr13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccccgcgcttaccagacGcccgaggttgtagtaacagt	9	7	11	14	4	0	1	0	0	0	1	0	2	0	1	4	1	2	5	4	1	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:101277794G>A	ENST00000342624.5	-	15	2089	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	TMTC4_ENST00000328767.5_Missense_Mutation_p.R481C|TMTC4_ENST00000376234.3_Missense_Mutation_p.R592C|TMTC4_ENST00000462211.1_5'UTR	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	592						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTACCAGACGCCCGAGGTTG	0.458													12	87					0	0	0	0	A	101277794	G	A	101277794	3	1	451	1	0	0	0	0	1	0	0	0	16357	1087	38	1	471	1	TMTC4	13	101277794	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	23642400	101277794	13892084	231	88289											
IRS2	8660	broad.mit.edu	37	chr13	110434679	110434679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagccggcagaggtctctCtgcgcatgggcgatccaccg	7	6	15	13	4	2	1	0	0	2	1	4	3	3	2	3	4	2	2	3	4	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:110434679C>G	ENST00000375856.3	-	1	4236	c.3722G>C	c.(3721-3723)aGa>aCa	p.R1241T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1241					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			AGAGGTCTCTCTGCGCATGGG	0.731													6	38					0	0	0	0	G	110434679	C	G	110434679	3	3	451	1	0	0	0	0	1	0	0	0	7894	913	32	2	302	2	IRS2	13	110434679	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	9156885	110434679	4735199	232	88290											
SUPT16H	11198	broad.mit.edu	37	chr14	21825480	21825480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgaaactggacccgctCaaagtggatcagctctacct	11	8	10	12	1	3	1	2	1	1	0	3	3	3	3	2	3	3	2	2	3	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:21825480C>T	ENST00000216297.2	-	22	2874	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	846					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGGACCCGCTCAAAGTGGATC	0.438													4	53					0	0	0	0	T	21825480	C	T	21825480	3	4	451	1	0	0	0	0	1	0	0	0	15486	835	29	2	627	2	SUPT16H	14	21825480	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		21825480	85524060	233	88291											
C14orf119	55017	broad.mit.edu	37	chr14	23567289	23567289	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctacagctggtaaggactGataggcattcagaccaaaga	14	8	11	8	0	1	3	1	1	0	2	1	4	1	4	1	3	3	4	1	3	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:23567289G>C	ENST00000319074.4	+	2	1278	c.422G>C	c.(421-423)tGa>tCa	p.*141S	C14orf119_ENST00000554203.1_Nonstop_Mutation_p.*141S	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	0										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		GGTAAGGACTGATAGGCATTC	0.468													4	89					0	0	0	0	C	23567289	G	C	23567289	4	2	451	1	0	0	0	0	0	0	0	0	1754	1285	45	2	424	2	C14orf119	14	23567289	Nonstop_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1741809	23567289	83782251	234	88292											
FITM1	161247	broad.mit.edu	37	chr14	24600964	24600964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggctggcagcagtggtCatctttgggccgcttctgca	4	11	14	12	1	3	0	1	0	2	0	3	0	3	0	2	4	2	5	2	4	0	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:24600964C>T	ENST00000558325.1	+	3	754	c.754C>T	c.(754-756)Cat>Tat	p.252_252insY	FITM1_ENST00000267426.5_Silent_p.V64V																							CAGCAGTGGTCATCTTTGGGC	0.602													14	82					0	0	0	0	T	24600964	C	T	24600964	3	4	451	1	0	0	0	0	1	0	0	0	5943	813	29	2	194	2	FITM1	14	24600964	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1033675	24600964	82748576	235	88293											
CTAGE5	4253	broad.mit.edu	37	chr14	39771434	39771434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaatgaacagtgaatcGgaaaatggtgcttacttagg	15	11	11	4	1	0	3	0	2	0	1	1	4	0	4	0	3	3	1	0	3	8	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:39771434G>A	ENST00000553728.1	+	14	2715	c.2502G>A	c.(2500-2502)tcG>tcA	p.S834S	CTAGE5_ENST00000557038.1_Silent_p.S219S|CTAGE5_ENST00000396165.4_Silent_p.S270S|CTAGE5_ENST00000348007.3_Silent_p.S299S|CTAGE5_ENST00000556148.1_Silent_p.S224S|CTAGE5_ENST00000396158.2_Silent_p.S304S|RP11-407N17.3_ENST00000603904.1_Silent_p.S270S|CTAGE5_ENST00000341502.5_Silent_p.S299S|CTAGE5_ENST00000280083.3_Silent_p.S299S|CTAGE5_ENST00000553352.1_Silent_p.S270S|CTAGE5_ENST00000341749.3_Silent_p.S287S																							ACAGTGAATCGGAAAATGGTG	0.398													4	195					0	0	0	0	A	39771434	G	A	39771434	2	1	451	1	0	0	0	0	0	0	0	1	4026	1103	39	1		1	CTAGE5	14	39771434	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	15170470	39771434	67578106	236	88294											
SYNE2	23224	broad.mit.edu	37	chr14	64473776	64473776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaggaaaaaatcattaatCagactggataaggttctaga	18	10	8	5	0	4	2	3	0	1	2	4	4	4	4	0	3	0	1	0	3	7	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:64473776C>T	ENST00000358025.3	+	31	4643	c.4413C>T	c.(4411-4413)atC>atT	p.I1471I	SYNE2_ENST00000554584.1_Silent_p.I1471I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.I1471I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1471					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCATTAATCAGACTGGATA	0.353													20	105					0	0	0	0	T	64473776	C	T	64473776	2	4	451	1	0	0	0	0	0	0	0	1	15537	816	29	2		2	SYNE2	14	64473776	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	24702342	64473776	42875764	237	88295											
SIPA1L1	26037	broad.mit.edu	37	chr14	72191394	72191394	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttttgtccaggcgtcatCagagcgatggcaatgaaata	11	12	10	8	2	2	2	2	1	0	1	3	3	3	2	1	2	1	1	1	2	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:72191394C>T	ENST00000555818.1	+	17	4867	c.4519C>T	c.(4519-4521)Cag>Tag	p.Q1507*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.Q1486*|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.Q1486*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.Q961*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1507					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGGCGTCATCAGAGCGATGG	0.498													12	47					0	0	0	0	T	72191394	C	T	72191394	4	4	451	1	0	0	0	0	0	1	0	0	14417	827	29	2	4581	2	SIPA1L1	14	72191394	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	7717618	72191394	35158146	238	88296											
FAM161B	145483	broad.mit.edu	37	chr14	74409110	74409110	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagcatcacagggccgctGagggtggcgcaggttggcgg	6	5	20	10	3	1	1	1	1	0	0	1	1	1	1	1	7	1	5	1	7	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:74409110G>A	ENST00000286544.3	-	4	1621	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	FAM161B_ENST00000534936.1_Nonsense_Mutation_p.Q412*	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CAGGGCCGCTGAGGGTGGCGC	0.622													21	124					0	0	0	0	A	74409110	G	A	74409110	4	1	451	1	0	0	0	0	0	1	0	0	5514	1299	45	2	733	2	FAM161B	14	74409110	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2217716	74409110	32940430	239	88297											
FAM161B	145483	broad.mit.edu	37	chr14	74409245	74409245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggaccacaggattcacccGaggctggaatctgaagttag	12	7	13	9	1	2	1	1	1	1	0	2	5	2	4	2	4	0	2	2	4	3	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:74409245G>A	ENST00000286544.3	-	4	1486	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	FAM161B_ENST00000534936.1_Missense_Mutation_p.R367W	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GGATTCACCCGAGGCTGGAAT	0.562													38	207					0	0	0	0	A	74409245	G	A	74409245	3	1	451	1	0	0	0	0	1	0	0	0	5514	1057	37	1	868	1	FAM161B	14	74409245	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	135	74409245	32940295	240	88298											
ISM2	145501	broad.mit.edu	37	chr14	77941989	77941989	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtactcctcctccaggggGttgtcggtgcaggctcggcc	4	9	15	13	2	0	0	0	0	0	0	5	0	3	0	4	6	2	4	4	6	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:77941989G>A	ENST00000393684.3	-	8	1792	c.1401C>T	c.(1399-1401)aaC>aaT	p.N467N	ISM2_ENST00000342219.4_Silent_p.N555N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.N474N|ISM2_ENST00000412904.1_Silent_p.N474N			Q6H9L7	ISM2_HUMAN	isthmin 2	555	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCTCCAGGGGGTTGTCGGTGC	0.632													12	127					0	0	0	0	A	77941989	G	A	77941989	2	1	451	1	0	0	0	0	0	0	0	1	7914	1252	44	4		4	ISM2	14	77941989	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3532744	77941989	29407551	241	88299											
SPATA7	55812	broad.mit.edu	37	chr14	88892873	88892873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcgaaagcacccagtgggGatcttttggataaacattct	11	13	9	8	1	2	0	0	0	2	0	3	3	2	2	1	3	2	1	1	3	3	5	rs139160202		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:88892873G>A	ENST00000556553.1	+	6	1133	c.574G>A	c.(574-576)Gat>Aat	p.D192N	SPATA7_ENST00000393545.4_Missense_Mutation_p.D224N|SPATA7_ENST00000356583.5_Missense_Mutation_p.D192N|SPATA7_ENST00000045347.7_Missense_Mutation_p.D224N			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	224					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						ACCCAGTGGGGATCTTTTGGA	0.448													15	95					0	0	0	0	A	88892873	G	A	88892873	3	1	451	1	0	0	0	0	1	0	0	0	15104	1174	41	2	692	2	SPATA7	14	88892873	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	10950884	88892873	18456667	242	88300											
AHNAK2	113146	broad.mit.edu	37	chr14	105420387	105420387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccttcggttgtgtctctCaaggacagtctggcgatccc	5	12	10	14	2	3	0	1	0	2	0	7	2	5	1	3	3	0	1	3	3	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105420387C>G	ENST00000333244.5	-	7	1520	c.1401G>C	c.(1399-1401)ttG>ttC	p.L467F		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	467						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTGTCTCTCAAGGACAGTC	0.542													10	52					0	0	0	0	G	105420387	C	G	105420387	3	3	451	1	0	0	0	0	1	0	0	0	415	825	29	2	15990	2	AHNAK2	14	105420387	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	16527514	105420387	1929153	243	88301											
JAG2	3714	broad.mit.edu	37	chr14	105609893	105609893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagtgagctgttccccCgctgggtgatggcggccacg	5	7	17	12	3	0	2	0	2	0	0	1	3	1	3	3	4	2	4	3	4	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105609893C>T	ENST00000331782.3	-	25	3570	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	JAG2_ENST00000347004.2_Missense_Mutation_p.R1018Q	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1056					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCTGTTCCCCCGCTGGGTGAT	0.677													6	20					0	0	0	0	T	105609893	C	T	105609893	3	4	451	1	0	0	0	0	1	0	0	0	7988	652	23	1	557	1	JAG2	14	105609893	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	189506	105609893	1739647	244	88302											
BTBD6	90135	broad.mit.edu	37	chr14	105716824	105716824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaacacccggtccaggttGaacaagacaccttctacacg	12	8	8	13	2	1	3	0	2	1	1	2	3	2	3	3	2	3	1	3	2	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105716824G>A	ENST00000463376.2	+	3	1589	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.E425K|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.E350K|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.E425K			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	425						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GGTCCAGGTTGAACAAGACAC	0.577													19	72					0	0	0	0	A	105716824	G	A	105716824	3	1	451	1	0	0	0	0	1	0	0	0	1554	1291	45	2	1287	2	BTBD6	14	105716824	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	106931	105716824	1632716	245	88303											
FSIP1	161835	broad.mit.edu	37	chr15	40062670	40062670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttgaaccaaatccagatCttcatctgatccctcttcag	11	13	5	12	0	5	3	2	2	3	1	7	3	7	3	3	0	1	1	3	0	2	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:40062670C>T	ENST00000350221.3	-	3	477	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	90										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAATCCAGATCTTCATCTGAT	0.358													16	114					0	0	0	0	T	40062670	C	T	40062670	3	4	451	1	0	0	0	0	1	0	0	0	6122	913	32	2	1517	2	FSIP1	15	40062670	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		40062670	62468722	246	88304											
STRC	161497	broad.mit.edu	37	chr15	43893683	43893683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtagttcccgatctcctaGacctattaagagcctaccaa	11	11	6	13	1	1	2	0	0	1	2	3	3	2	2	5	0	2	2	5	0	6	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:43893683G>C	ENST00000450892.2	-	24	4689	c.4612C>G	c.(4612-4614)Cta>Gta	p.L1538V	STRC_ENST00000541030.1_Missense_Mutation_p.L765V	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1538					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CGATCTCCTAGACCTATTAAG	0.537													12	81					0	0	0	0	C	43893683	G	C	43893683	3	2	451	1	0	0	0	0	1	0	0	0	15418	933	33	2	739	2	STRC	15	43893683	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3831013	43893683	58637709	247	88305											
MYO5A	4644	broad.mit.edu	37	chr15	52725429	52725429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggcttataatctttgagCagctctgctgacttccagac	8	13	8	12	0	2	3	0	2	2	1	3	3	3	3	2	1	3	4	2	1	2	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:52725429C>T	ENST00000399231.3	-	2	324	c.81G>A	c.(79-81)ctG>ctA	p.L27L	MYO5A_ENST00000356338.6_Silent_p.L27L|MYO5A_ENST00000399233.2_Silent_p.L27L|MYO5A_ENST00000553916.1_Silent_p.L27L|MYO5A_ENST00000358212.6_Silent_p.L27L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	27	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AATCTTTGAGCAGCTCTGCTG	0.393													9	69					0	0	0	0	T	52725429	C	T	52725429	2	4	451	1	0	0	0	0	0	0	0	1	10148	697	25	4		4	MYO5A	15	52725429	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	8831746	52725429	49805963	248	88306											
EDC3	80153	broad.mit.edu	37	chr15	74948152	74948152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcggactccaagatgttctCatcatggcggtaccgagtgg	8	10	12	11	3	2	1	2	0	1	1	5	3	3	2	2	4	1	2	2	4	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:74948152C>T	ENST00000315127.4	-	4	923	c.742G>A	c.(742-744)Gag>Aag	p.E248K	EDC3_ENST00000568176.1_Missense_Mutation_p.E248K|EDC3_ENST00000426797.3_Missense_Mutation_p.E248K	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	248	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AAGATGTTCTCATCATGGCGG	0.537													12	73					0	0	0	0	T	74948152	C	T	74948152	3	4	451	1	0	0	0	0	1	0	0	0	4943	835	29	2	800	2	EDC3	15	74948152	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	22222723	74948152	27583240	249	88307											
IQGAP1	8826	broad.mit.edu	37	chr15	90982576	90982576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctagtttgtacctgttCaagctaggcctggcccctca	6	14	8	13	0	4	0	2	0	2	0	4	0	4	0	4	2	2	4	4	2	4	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:90982576C>G	ENST00000268182.5	+	6	604	c.480C>G	c.(478-480)ttC>ttG	p.F160L	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	160					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTACCTGTTCAAGCTAGGCC	0.433													4	39					0	0	0	0	G	90982576	C	G	90982576	3	3	451	1	0	0	0	0	1	0	0	0	7867	825	29	2	502	2	IQGAP1	15	90982576	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	16034424	90982576	11548816	250	88308											
HBQ1	3049	broad.mit.edu	37	chr16	231027	231027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcccggcactaccccggaGacttcagccccgcgctgcag	6	5	11	19	5	1	1	1	0	0	1	2	2	1	1	5	2	3	3	5	2	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:231027G>A	ENST00000199708.2	+	3	383	c.349G>A	c.(349-351)Gac>Aac	p.D117N		NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	117						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTACCCCGGAGACTTCAGCCC	0.701													6	64					0	0	0	0	A	231027	G	A	231027	3	1	451	1	0	0	0	0	1	0	0	0	7036	942	33	2	359	2	HBQ1	16	231027	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		231027	90123726	251	88309											
CCDC78	124093	broad.mit.edu	37	chr16	774385	774385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctcttgtggtagctgCgggcagcccgggccagctgc	4	7	15	15	2	1	0	0	0	1	0	1	0	1	0	4	3	6	4	4	3	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:774385C>T	ENST00000293889.6	-	9	995	c.890G>A	c.(889-891)cGc>cAc	p.R297H		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	297										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GTGGTAGCTGCGGGCAGCCCG	0.677													4	150					0	0	0	0	T	774385	C	T	774385	3	4	451	1	0	0	0	0	1	0	0	0	2879	768	27	1	450	1	CCDC78	16	774385	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	543358	774385	89580368	252	88310											
NAGPA	51172	broad.mit.edu	37	chr16	5083377	5083377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccacgttccccaggcactCgcccgagttcatgcggaaga	9	6	10	16	4	1	1	1	0	0	1	3	3	2	2	4	2	1	3	4	2	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:5083377C>T	ENST00000312251.3	-	2	458	c.439G>A	c.(439-441)Gag>Aag	p.E147K	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.E147K	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	147					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCAGGCACTCGCCCGAGTTC	0.736													8	33					0	0	0	0	T	5083377	C	T	5083377	3	4	451	1	0	0	0	0	1	0	0	0	10214	893	31	1	1144	1	NAGPA	16	5083377	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	4308992	5083377	85271376	253	88311											
CIITA	4261	broad.mit.edu	37	chr16	11010232	11010232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctgcagcctggatgCgctgagtgagaacaagatcg	10	8	12	11	2	0	3	0	2	0	2	2	5	1	4	3	1	4	2	3	1	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:11010232C>T	ENST00000324288.8	+	15	3111	c.2978C>T	c.(2977-2979)gCg>gTg	p.A993V	CIITA_ENST00000381835.5_Missense_Mutation_p.A409V	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	993					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGCCTGGATGCGCTGAGTGAG	0.627			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								4	26					0	0	0	0	T	11010232	C	T	11010232	3	4	451	1	0	0	0	0	1	0	0	0	3457	768	27	1	3036	1	CIITA	16	11010232	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5926855	11010232	79344521	254	88312											
RSL1D1	26156	broad.mit.edu	37	chr16	11940376	11940376	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgcaagaaccacttttaGaaatgtttaagactgttcca	14	12	6	9	0	0	3	0	0	0	3	1	3	1	3	3	0	2	3	3	0	5	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:11940376G>C	ENST00000571133.1	-	5	689	c.617C>G	c.(616-618)tCt>tGt	p.S206C	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	206					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.S206F(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCACTTTTAGAAATGTTTAA	0.323													13	70					0	0	0	0	C	11940376	G	C	11940376	3	2	451	1	0	0	0	0	1	0	0	0	13785	942	33	2	875	2	RSL1D1	16	11940376	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	930144	11940376	78414377	255	88313											
XPO6	23214	broad.mit.edu	37	chr16	28143700	28143700	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtaatcccaaataaacttCtaaattgtcctgaagaacag	16	12	5	8	0	1	2	0	1	1	1	3	2	3	2	2	0	2	1	2	0	8	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:28143700C>G	ENST00000304658.5	-	12	2061	c.1561G>C	c.(1561-1563)Gaa>Caa	p.E521Q	XPO6_ENST00000565698.1_Missense_Mutation_p.E507Q	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	521					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAATAAACTTCTAAATTGTCC	0.299													6	16					0	0	0	0	G	28143700	C	G	28143700	3	3	451	1	0	0	0	0	1	0	0	0	17544	922	32	2	1868	2	XPO6	16	28143700	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	16203324	28143700	62211053	256	88314											
SNX20	124460	broad.mit.edu	37	chr16	50707318	50707318	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggggtcccaggccggctCagtgcaggtattctcgcaca	6	8	14	13	3	2	0	1	0	1	0	4	0	3	0	2	5	2	4	2	5	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:50707318C>G	ENST00000330943.4	-	4	1121	c.950G>C	c.(949-951)tGa>tCa	p.*317S	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	0					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CAGGCCGGCTCAGTGCAGGTA	0.572													22	105					0	0	0	0	G	50707318	C	G	50707318	4	3	451	1	0	0	0	0	0	0	0	0	14980	837	29	2	147	2	SNX20	16	50707318	Nonstop_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	22563618	50707318	39647435	257	88315											
NUP93	9688	broad.mit.edu	37	chr16	56864452	56864452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttttaggatggagaggtgGaaggccatcctgtgtgggcg	7	11	17	6	1	1	1	0	0	1	1	2	4	2	3	2	6	0	0	2	6	2	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56864452G>A	ENST00000564887.1	+	8	1200	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NUP93_ENST00000569842.1_Missense_Mutation_p.E314K|NUP93_ENST00000308159.5_Missense_Mutation_p.E314K|NUP93_ENST00000542526.1_Missense_Mutation_p.E191K	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	314					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGAGAGGTGGAAGGCCATCC	0.502													23	129					0	0	0	0	A	56864452	G	A	56864452	3	1	451	1	0	0	0	0	1	0	0	0	10843	1175	41	2	974	2	NUP93	16	56864452	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	6157134	56864452	33490301	258	88316											
NUP93	9688	broad.mit.edu	37	chr16	56865890	56865890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaccagagtgaagtggcgGacaaaactgaggattacctg	15	6	12	8	1	0	3	0	2	0	1	0	5	0	5	2	3	3	0	2	3	5	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56865890G>A	ENST00000564887.1	+	9	1482	c.853G>A	c.(853-855)Gac>Aac	p.D285N	NUP93_ENST00000569842.1_Missense_Mutation_p.D408N|NUP93_ENST00000308159.5_Missense_Mutation_p.D408N|NUP93_ENST00000542526.1_Missense_Mutation_p.D285N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	408					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAAGTGGCGGACAAAACTGA	0.517													15	115					0	0	0	0	A	56865890	G	A	56865890	3	1	451	1	0	0	0	0	1	0	0	0	10843	1174	41	2	1260	2	NUP93	16	56865890	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1438	56865890	33488863	259	88317											
NUP93	9688	broad.mit.edu	37	chr16	56867258	56867258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgccatgctgtccatgtaGcactggtgctgtttgagctg	5	13	13	10	0	0	1	0	1	0	0	1	1	1	1	2	1	5	7	2	1	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56867258G>A	ENST00000564887.1	+	11	1737	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	NUP93_ENST00000569842.1_Missense_Mutation_p.A493T|NUP93_ENST00000308159.5_Missense_Mutation_p.A493T|NUP93_ENST00000542526.1_Missense_Mutation_p.A370T	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	493					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGTCCATGTAGCACTGGTGCT	0.507													13	86					0	0	0	0	A	56867258	G	A	56867258	3	1	451	1	0	0	0	0	1	0	0	0	10843	971	34	4	1523	4	NUP93	16	56867258	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1368	56867258	33487495	260	88318											
SLC12A3	6559	broad.mit.edu	37	chr16	56916369	56916369	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgctcctatgccctcatCaacttcagctgcttccacgc	6	12	5	18	1	4	0	3	0	1	0	6	0	6	0	3	0	5	3	3	0	2	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56916369C>T	ENST00000438926.2	+	13	1658	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	SLC12A3_ENST00000566786.1_Silent_p.I542I|SLC12A3_ENST00000563236.1_Silent_p.I543I|SLC12A3_ENST00000262502.5_Silent_p.I542I	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	543					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATGCCCTCATCAACTTCAGCT	0.597													21	153					0	0	0	0	T	56916369	C	T	56916369	2	4	451	1	0	0	0	0	0	0	0	1	14472	816	29	2		2	SLC12A3	16	56916369	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	49111	56916369	33438384	261	88319											
EDC4	23644	broad.mit.edu	37	chr16	67910785	67910785	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggttctcaggtgaaaattCagcctgtcgccaagtatgac	10	11	11	9	1	2	2	2	2	1	0	4	2	2	2	2	2	1	2	2	2	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:67910785C>T	ENST00000358933.5	+	4	600	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	121					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGTGAAAATTCAGCCTGTCGC	0.517													16	132					0	0	0	0	T	67910785	C	T	67910785	4	4	451	1	0	0	0	0	0	1	0	0	4944	827	29	2	375	2	EDC4	16	67910785	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	10994416	67910785	22443968	262	88320											
CTU2	348180	broad.mit.edu	37	chr16	88780994	88780994	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccccctctctgcttgcaGacagtgccacggcttttggg	5	11	10	15	1	2	1	1	0	1	1	3	1	2	1	3	2	3	3	3	2	0	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:88780994G>A	ENST00000567949.1	+	12	1423		c.e12-1		CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site|CTU2_ENST00000378384.3_Splice_Site			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTGCTTGCAGACAGTGCCAC	0.667													13	64					0	0	0	0	A	88780994	G	A	88780994	5	1	451	1	0	0	0	0	0	0	1	0	4080	956	33	2	1247	2	CTU2	16	88780994	Splice_Site	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	20870209	88780994	1573759	263	88321											
MYO1C	4641	broad.mit.edu	37	chr17	1386278	1386278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtcttgcctgccccgctCtccccagagatcatcacagc	6	9	8	18	2	4	1	2	0	2	1	6	2	4	1	5	1	3	1	5	1	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:1386278C>G	ENST00000359786.5	-	4	747	c.423G>C	c.(421-423)gaG>gaC	p.E141D	MYO1C_ENST00000438665.2_Missense_Mutation_p.E122D|MYO1C_ENST00000361007.2_Missense_Mutation_p.E106D|MYO1C_ENST00000575158.1_Missense_Mutation_p.E106D|MYO1C_ENST00000545534.2_Missense_Mutation_p.E117D	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	141	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCCCCGCTCTCCCCAGAGA	0.687													6	32					0	0	0	0	G	1386278	C	G	1386278	3	3	451	1	0	0	0	0	1	0	0	0	10140	912	32	2	2884	2	MYO1C	17	1386278	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		1386278	79808932	264	88322											
WDR81	124997	broad.mit.edu	37	chr17	1634467	1634467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcatcgtgtacctctcaGacaccacactcatggacatc	12	9	6	14	1	3	2	3	0	1	2	6	3	3	3	2	1	1	1	2	1	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:1634467G>A	ENST00000409644.1	+	4	4072	c.4072G>A	c.(4072-4074)Gac>Aac	p.D1358N	WDR81_ENST00000437219.2_Missense_Mutation_p.D155N|WDR81_ENST00000446363.1_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000419248.1_Missense_Mutation_p.D131N|WDR81_ENST00000309182.5_Missense_Mutation_p.D307N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	131										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTACCTCTCAGACACCACACT	0.652													10	49					0	0	0	0	A	1634467	G	A	1634467	3	1	451	1	0	0	0	0	1	0	0	0	17426	942	33	2	4148	2	WDR81	17	1634467	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	248189	1634467	79560743	265	88323											
CHRNB1	1140	broad.mit.edu	37	chr17	7360041	7360041	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccagacccctttccttGaagactggagggttgagacc	8	9	10	14	0	0	4	0	2	0	3	2	6	2	5	6	2	0	1	6	2	1	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:7360041G>A	ENST00000306071.2	+	11	1572	c.1505G>A	c.(1504-1506)tGa>tAa	p.*502*	CHRNB1_ENST00000576360.1_Silent_p.*381*|CHRNB1_ENST00000575379.1_Silent_p.*38*|CHRNB1_ENST00000536404.2_Silent_p.*430*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	0					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CCCTTTCCTTGAAGACTGGAG	0.552													8	65					0	0	0	0	A	7360041	G	A	7360041	2	1	451	1	0	0	0	0	0	0	0	1	3419	1285	45	2		2	CHRNB1	17	7360041	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5725574	7360041	73835169	266	88324											
DNAH2	146754	broad.mit.edu	37	chr17	7636531	7636531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccctgcttcggctgctcGgtggagtctttgcccctcag	2	11	13	15	3	2	0	1	0	1	0	4	1	2	1	3	4	3	3	3	4	0	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:7636531G>A	ENST00000572933.1	+	5	1986	c.526G>A	c.(526-528)Ggt>Agt	p.G176S	DNAH2_ENST00000082259.3_Missense_Mutation_p.G176S|DNAH2_ENST00000389173.2_Missense_Mutation_p.G176S|DNAH2_ENST00000570791.1_Missense_Mutation_p.G176S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	176	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCGGCTGCTCGGTGGAGTCTT	0.562													4	161					0	0	0	0	A	7636531	G	A	7636531	3	1	451	1	0	0	0	0	1	0	0	0	4639	1116	39	1	540	1	DNAH2	17	7636531	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	276490	7636531	73558679	267	88325											
NCOR1	9611	broad.mit.edu	37	chr17	15983977	15983977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagatagatcccactgacGgcttgggtgtttcttgagtg	8	12	14	7	1	1	4	0	2	1	2	2	6	2	4	1	2	0	2	1	2	1	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:15983977G>A	ENST00000268712.3	-	24	3499	c.3242C>T	c.(3241-3243)cCg>cTg	p.P1081L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1081	Interaction with ETO.				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.P1081L(1)|p.P1081Q(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)		TCCCACTGACGGCTTGGGTGT	0.403													9	72					0	0	0	0	A	15983977	G	A	15983977	3	1	451	1	0	0	0	0	1	0	0	0	10305	1116	39	1	4172	1	NCOR1	17	15983977	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	8347446	15983977	65211233	268	88326											
TOM1L2	146691	broad.mit.edu	37	chr17	17766143	17766143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgaactgagggtgccactGacgctctctgtccccaagtc	8	9	11	13	1	1	3	0	3	1	0	4	3	2	3	3	1	2	1	3	1	2	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:17766143G>A	ENST00000581396.1	-	10	1050	c.954C>T	c.(952-954)gtC>gtT	p.V318V	TOM1L2_ENST00000318094.10_Silent_p.V323V|TOM1L2_ENST00000395739.4_Silent_p.V323V|TOM1L2_ENST00000379504.3_Silent_p.V368V|TOM1L2_ENST00000542206.1_Silent_p.V220V|TOM1L2_ENST00000540946.1_Silent_p.V270V|TOM1L2_ENST00000535933.1_Silent_p.V315V|TOM1L2_ENST00000478943.1_Silent_p.V101V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	368					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GGGTGCCACTGACGCTCTCTG	0.527													22	152					0	0	0	0	A	17766143	G	A	17766143	2	1	451	1	0	0	0	0	0	0	0	1	16447	1277	45	2		2	TOM1L2	17	17766143	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1782166	17766143	63429067	269	88327											
CDK5R1	8851	broad.mit.edu	37	chr17	30815064	30815064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggacgcccaaacgggtCatcgtccaggcgtccaccag	9	4	13	15	4	1	0	1	0	0	0	4	1	3	1	4	3	1	1	4	3	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:30815064C>T	ENST00000313401.3	+	2	1115	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	142					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCAAACGGGTCATCGTCCAGG	0.687													15	86					0	0	0	0	T	30815064	C	T	30815064	2	4	451	1	0	0	0	0	0	0	0	1	3172	813	29	2		2	CDK5R1	17	30815064	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	13048921	30815064	50380146	270	88328											
AP2B1	163	broad.mit.edu	37	chr17	34050652	34050652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcctaacagctgtcactGaagtgtagagctcctgaagt	10	12	9	10	0	2	3	1	2	1	1	4	3	3	3	2	0	3	3	2	0	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:34050652G>A	ENST00000262325.7	+	21	3301	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	AP2B1_ENST00000592545.1_Silent_p.L892L|AP2B1_ENST00000589344.1_Silent_p.L930L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Silent_p.L859L|AP2B1_ENST00000312678.8_Silent_p.L930L|AP2B1_ENST00000537622.2_Silent_p.L930L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	916	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTGTCACTGAAGTGTAGAG	0.423													4	61					0	0	0	0	A	34050652	G	A	34050652	2	1	451	1	0	0	0	0	0	0	0	1	742	1277	45	2		2	AP2B1	17	34050652	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3235588	34050652	47144558	271	88329											
SYNRG	11276	broad.mit.edu	37	chr17	35913868	35913868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaatgctgtcatagtagCagcagaacctgttgactgtg	10	11	11	9	0	1	2	1	1	0	1	1	2	1	2	2	0	5	5	2	0	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:35913868C>T	ENST00000339208.6	-	14	2097	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SYNRG_ENST00000502449.2_Missense_Mutation_p.A575T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A575T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A575T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A492T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A574T|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Missense_Mutation_p.A653T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	653	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCATAGTAGCAGCAGAACCT	0.418													14	99					0	0	0	0	T	35913868	C	T	35913868	3	4	451	1	0	0	0	0	1	0	0	0	15551	710	25	4	2096	4	SYNRG	17	35913868	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1863216	35913868	45281342	272	88330											
PCGF2	7703	broad.mit.edu	37	chr17	36896596	36896596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgatgaagtaccccccgcaGagggcacacatgaggtgggg	10	5	15	11	2	0	3	0	2	0	1	1	4	0	3	3	4	1	3	3	4	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:36896596G>A	ENST00000580830.1	-	4	761	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCGF2_ENST00000579882.1_Silent_p.L20L|PCGF2_ENST00000585100.1_Silent_p.L20L|PCGF2_ENST00000581345.1_Silent_p.L20L|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Silent_p.L20L			P35227	PCGF2_HUMAN	polycomb group ring finger 2	20					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ACCCCCCGCAGAGGGCACACA	0.637													12	132					0	0	0	0	A	36896596	G	A	36896596	2	1	451	1	0	0	0	0	0	0	0	1	11646	929	33	2		2	PCGF2	17	36896596	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	982728	36896596	44298614	273	88331											
FBXO47	494188	broad.mit.edu	37	chr17	37093512	37093512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtacaagatggaacaaattCaaaaagcttctgtcatcttc	15	12	6	8	0	4	1	2	0	2	1	5	2	4	2	0	1	3	2	0	1	6	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:37093512C>G	ENST00000378079.2	-	11	1474	c.1275G>C	c.(1273-1275)ttG>ttC	p.L425F		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	425										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGAACAAATTCAAAAAGCTTC	0.353													8	49					0	0	0	0	G	37093512	C	G	37093512	3	3	451	1	0	0	0	0	1	0	0	0	5801	825	29	2	87	2	FBXO47	17	37093512	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	196916	37093512	44101698	274	88332											
FAM134C	162427	broad.mit.edu	37	chr17	40733930	40733930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtccaggtctgaactGggggaccggaggaagcctct	8	8	15	10	1	3	1	1	1	2	0	4	4	4	4	3	5	2	0	3	5	2	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:40733930G>A	ENST00000309428.5	-	9	1361	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	FAM134C_ENST00000543197.1_Silent_p.P239P|FAM134C_ENST00000585894.1_Silent_p.P337P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	434						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGTCTGAACTGGGGGACCGGA	0.602													9	63					0	0	0	0	A	40733930	G	A	40733930	2	1	451	1	0	0	0	0	0	0	0	1	5488	1335	47	4		4	FAM134C	17	40733930	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3640418	40733930	40461280	275	88333											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839868	40839868	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttcgcttccgcacctGggacctcaccgggcttctcc	4	11	8	18	3	3	0	2	0	1	0	6	1	4	1	5	2	0	3	5	2	0	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:40839868G>A	ENST00000264638.4	+	8	1392	c.1175G>A	c.(1174-1176)tGg>tAg	p.W392*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	392	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCCGCACCTGGGACCTCACC	0.642													18	72					0	0	0	0	A	40839868	G	A	40839868	4	1	451	1	0	0	0	0	0	1	0	0	3676	1357	47	4	1205	4	CNTNAP1	17	40839868	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	105938	40839868	40355342	276	88334											
ASB16	92591	broad.mit.edu	37	chr17	42248167	42248167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccccatccatggcaagaGagaccttccccttcacctcc	8	7	8	18	0	1	2	1	0	0	2	4	3	4	2	8	2	0	1	8	2	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:42248167G>A	ENST00000293414.1	+	1	94	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	4					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CATGGCAAGAGAGACCTTCCC	0.682													15	78					0	0	0	0	A	42248167	G	A	42248167	3	1	451	1	0	0	0	0	1	0	0	0	1024	943	33	2	12	2	ASB16	17	42248167	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1408299	42248167	38947043	277	88335											
CDC27	996	broad.mit.edu	37	chr17	45229206	45229206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaactttgtgtttgtgcaaGaattggagttacctctcggc	9	14	11	7	1	1	2	0	0	1	2	2	3	1	3	1	2	3	3	1	2	4	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:45229206G>A	ENST00000066544.3	-	9	1129	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	CDC27_ENST00000531206.1_Missense_Mutation_p.L352F|CDC27_ENST00000527547.1_Missense_Mutation_p.L346F|CDC27_ENST00000446365.2_Missense_Mutation_p.L285F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	346					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTTGTGCAAGAATTGGAGTT	0.358													22	168					0	0	0	0	A	45229206	G	A	45229206	3	1	451	1	0	0	0	0	1	0	0	0	3095	942	33	2	1482	2	CDC27	17	45229206	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2981039	45229206	35966004	278	88336											
CACNA1G	8913	broad.mit.edu	37	chr17	48676880	48676880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacagcctcggccgtgcacCcagcctgaagcggagaagcc	10	3	13	15	3	0	2	0	1	0	1	1	4	0	2	5	2	6	1	5	2	3	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:48676880C>T	ENST00000352832.5	+	16	3653	c.3281C>T	c.(3280-3282)cCc>cTc	p.P1094L	CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1094L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P1117L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1094L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1117L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1117L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1117					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCGTGCACCCAGCCTGAAG	0.682													4	17					0	0	0	0	T	48676880	C	T	48676880	3	4	451	1	0	0	0	0	1	0	0	0	2569	623	22	4	3416	4	CACNA1G	17	48676880	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3447674	48676880	32518330	279	88337											
MRPS23	51649	broad.mit.edu	37	chr17	55927329	55927329	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggctgggagcacacaccGagagaagatgctccctacgg	11	4	13	13	3	0	2	0	0	0	2	1	5	1	3	2	3	3	3	2	3	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:55927329G>A	ENST00000313608.8	-	1	88	c.44_splice	c.e1+1	p.R15_splice	MRPS23_ENST00000578444.1_Splice_Site_p.R15_splice	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	15					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					AGCACACACCGAGAGAAGATG	0.667													3	15					0	0	0	0	A	55927329	G	A	55927329	5	1	451	1	0	0	0	0	0	0	1	0	9904	1072	37	1	549	1	MRPS23	17	55927329	Splice_Site	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7250449	55927329	25267881	280	88338											
KIF19	124602	broad.mit.edu	37	chr17	72348967	72348967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctcctccccaggacagctCcttgcccaaaattaccccag	9	7	5	20	0	0	0	0	0	0	0	3	1	3	1	8	1	3	1	8	1	3	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:72348967C>G	ENST00000389916.4	+	15	2126	c.1988C>G	c.(1987-1989)tCc>tGc	p.S663C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	663					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			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						CAGGACAGCTCCTTGCCCAAA	0.547													17	161					0	0	0	0	G	72348967	C	G	72348967	3	3	451	1	0	0	0	0	1	0	0	0	8333	855	30	2	2046	2	KIF19	17	72348967	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	16421638	72348967	8846243	281	88339											
CASKIN2	57513	broad.mit.edu	37	chr17	73498128	73498128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgtggcactggccactccGaaggccagcagtgcggtctg	6	6	16	13	3	1	0	0	0	1	0	2	1	2	0	3	5	2	2	3	5	1	0	rs140170248		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:73498128G>A	ENST00000321617.3	-	18	3613	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F	CASKIN2_ENST00000433559.2_Silent_p.F927F	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1009	Pro-rich.					cytoplasm		p.F1009F(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCCACTCCGAAGGCCAGCA	0.662													25	96					0	0	0	0	A	73498128	G	A	73498128	2	1	451	1	0	0	0	0	0	0	0	1	2692	1049	37	1		1	CASKIN2	17	73498128	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1149161	73498128	7697082	282	88340											
ACOX1	51	broad.mit.edu	37	chr17	73947546	73947546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgccttcgttaatccggtGataggtctccttcatgtatg	8	15	9	9	2	2	1	1	1	1	0	5	1	3	1	3	2	1	2	3	2	4	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:73947546G>A	ENST00000537812.1	-	8	1591	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	ACOX1_ENST00000301608.4_Missense_Mutation_p.H353Y|ACOX1_ENST00000293217.5_Missense_Mutation_p.H353Y	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	353					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TTAATCCGGTGATAGGTCTCC	0.488													14	111					0	0	0	0	A	73947546	G	A	73947546	3	1	451	1	0	0	0	0	1	0	0	0	158	1290	45	2	953	2	ACOX1	17	73947546	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	449418	73947546	7247664	283	88341											
ZNF750	79755	broad.mit.edu	37	chr17	80790328	80790328	+	Translation_Start_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgctctttgaggagactCattttcctccttatgccttg	5	17	7	12	1	2	2	1	1	1	1	5	3	5	2	4	1	1	1	4	1	1	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:80790328C>G	ENST00000269394.3	-	2	836	c.3G>C	c.(1-3)atG>atC	p.M1I	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	1						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGGAGACTCATTTTCCTCC	0.512													13	52					0	0	0	0	G	80790328	C	G	80790328	1	3	451	1	0	0	0	0	0	0	0	0	18226	826	29	2		2	ZNF750	17	80790328	Translation_Start_Site	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	6842782	80790328	404882	284	88342											
ENOSF1	55556	broad.mit.edu	37	chr18	697244	697244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaataggtcccttacccatCtgagctgcccatcacttgtg	10	11	7	13	0	2	1	1	1	1	0	3	1	3	1	3	1	3	1	3	1	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:697244C>T	ENST00000251101.7	-	3	393	c.305G>A	c.(304-306)aGa>aAa	p.R102K	ENOSF1_ENST00000539164.1_Missense_Mutation_p.R102K|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.R123K|ENOSF1_ENST00000580982.1_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	102					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCTTACCCATCTGAGCTGCCC	0.448													56	356					0	0	0	0	T	697244	C	T	697244	3	4	451	1	0	0	0	0	1	0	0	0	5163	913	32	2	1082	2	ENOSF1	18	697244	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		697244	77380004	285	88343											
DLGAP1	9229	broad.mit.edu	37	chr18	3814187	3814187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcatcccccatggccttGatataactgccactccgcat	8	12	5	16	1	2	1	1	1	1	0	4	1	4	1	5	1	2	1	5	1	2	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:3814187G>C	ENST00000315677.3	-	5	1639	c.1044C>G	c.(1042-1044)atC>atG	p.I348M	DLGAP1_ENST00000539435.1_Missense_Mutation_p.I46M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.I56M|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400150.3_Missense_Mutation_p.I54M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.I54M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.I54M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.I348M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.I348M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.I60M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.I348M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	348					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCATGGCCTTGATATAACTGC	0.488													24	115					0	0	0	0	C	3814187	G	C	3814187	3	2	451	1	0	0	0	0	1	0	0	0	4596	1280	45	2	1925	2	DLGAP1	18	3814187	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3116943	3814187	74263061	286	88344											
PPP4R1	9989	broad.mit.edu	37	chr18	9584724	9584724	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgacaaaaaaatacctttcGaacgtgaaacattctgcaat	18	9	5	9	3	1	1	0	1	1	0	2	3	1	1	1	0	4	1	1	0	7	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:9584724G>A	ENST00000400556.3	-	7	761	c.688C>T	c.(688-690)Cga>Tga	p.R230*	PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.R213*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	230					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AATACCTTTCGAACGTGAAAC	0.363													6	29					0	0	0	0	A	9584724	G	A	9584724	4	1	451	1	0	0	0	0	0	1	0	0	12479	1066	37	1	2220	1	PPP4R1	18	9584724	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	5770537	9584724	68492524	287	88345											
IMPACT	55364	broad.mit.edu	37	chr18	22020483	22020483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgtaaagaagaaaactGaagaggaagatgttgaatgt	19	8	12	2	0	0	7	0	2	0	5	0	8	0	8	0	1	1	2	0	1	8	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:22020483G>A	ENST00000284202.4	+	6	532	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	131										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GAAGAAAACTGAAGAGGAAGA	0.373													19	93					0	0	0	0	A	22020483	G	A	22020483	3	1	451	1	0	0	0	0	1	0	0	0	7777	1291	45	2	413	2	IMPACT	18	22020483	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	12435759	22020483	56056765	288	88346											
IMPACT	55364	broad.mit.edu	37	chr18	22020498	22020498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactgaagaggaagatgttGaatgtgaagatgatctcatt	16	11	11	3	0	1	7	1	4	1	3	2	8	1	8	0	1	1	1	0	1	5	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:22020498G>A	ENST00000284202.4	+	6	547	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	136										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGAAGATGTTGAATGTGAAGA	0.358													22	103					0	0	0	0	A	22020498	G	A	22020498	3	1	451	1	0	0	0	0	1	0	0	0	7777	1291	45	2	428	2	IMPACT	18	22020498	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	15	22020498	56056750	289	88347											
MAPK4	5596	broad.mit.edu	37	chr18	48252439	48252439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catactcgtgccctgaggacGagcccacctcacaacacccc	10	5	7	19	2	1	1	1	1	0	0	2	3	1	2	5	1	4	0	5	1	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:48252439G>A	ENST00000400384.2	+	5	1997	c.961G>A	c.(961-963)Gag>Aag	p.E321K	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E110K	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	321					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCCTGAGGACGAGCCCACCTC	0.572													5	136					0	0	0	0	A	48252439	G	A	48252439	3	1	451	1	0	0	0	0	1	0	0	0	9349	1059	37	1	975	1	MAPK4	18	48252439	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	26231941	48252439	29824809	290	88348											
MRO	83876	broad.mit.edu	37	chr18	48327852	48327852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaaacaaaacaaaggccGagtatctcagactgtcgttc	14	7	8	12	2	1	1	1	0	1	1	4	2	1	1	2	1	2	2	2	1	5	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:48327852G>A	ENST00000428869.2	-	7	710	c.452C>T	c.(451-453)tCg>tTg	p.S151L	MRO_ENST00000256425.2_Missense_Mutation_p.S151L|MRO_ENST00000398439.3_Missense_Mutation_p.S151L|MRO_ENST00000436348.2_Missense_Mutation_p.S165L|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Intron|MRO_ENST00000588444.1_Intron			Q9BYG7	MSTRO_HUMAN	maestro	151						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AACAAAGGCCGAGTATCTCAG	0.463													13	298					0	0	0	0	A	48327852	G	A	48327852	3	1	451	1	0	0	0	0	1	0	0	0	9842	1059	37	1	306	1	MRO	18	48327852	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	75413	48327852	29749396	291	88349											
THEG	51298	broad.mit.edu	37	chr19	374409	374409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctggggagcttctggctGatggacagccggctttggga	5	10	18	8	1	1	1	0	1	1	0	1	4	1	4	1	6	3	4	1	6	0	2	rs150793768		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:374409G>A	ENST00000342640.4	-	2	363	c.321C>T	c.(319-321)atC>atT	p.I107I	THEG_ENST00000346878.2_Silent_p.I107I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	107					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTGGCTGATGGACAGCC	0.592													13	83					0	0	0	0	A	374409	G	A	374409	2	1	451	1	0	0	0	0	0	0	0	1	15951	1280	45	2		2	THEG	19	374409	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		374409	58754574	292	88350											
PLIN5	440503	broad.mit.edu	37	chr19	4529176	4529176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatggctcacggagcgcttCagctccacgctccagcgccg	6	6	12	17	5	2	0	2	0	0	0	4	1	4	1	3	2	3	5	3	2	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:4529176C>T	ENST00000381848.3	-	5	509	c.429G>A	c.(427-429)ctG>ctA	p.L143L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	143						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGAGCGCTTCAGCTCCACGC	0.627													30	202					0	0	0	0	T	4529176	C	T	4529176	2	4	451	1	0	0	0	0	0	0	0	1	12165	813	29	2		2	PLIN5	19	4529176	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	4154767	4529176	54599807	293	88351											
UHRF1	29128	broad.mit.edu	37	chr19	4944242	4944242	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagatggcctcggccacatCgtcctcacagcgggactggg	8	6	14	13	3	1	1	1	0	0	1	4	3	2	2	3	4	1	0	3	4	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:4944242C>T	ENST00000592666.1	+	0	1748							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCGGCCACATCGTCCTCACAG	0.647													4	63					0	0	0	0	T	4944242	C	T	4944242	1	4	451	0	1	0	0	0	0	0	0	0	17063	893	31	1		1	UHRF1	19	4944242	RNA	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	415066	4944242	54184741	294	88352											
MUC16	94025	broad.mit.edu	37	chr19	9065474	9065474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtttgggtcttgatggtCatttctgatgattctgccag	5	18	11	7	0	4	3	1	3	3	0	4	3	4	3	1	2	1	1	1	2	0	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:9065474C>T	ENST00000397910.4	-	3	22175	c.21972G>A	c.(21970-21972)atG>atA	p.M7324I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7326	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGATGGTCATTTCTGATG	0.443													9	66					0	0	0	0	T	9065474	C	T	9065474	3	4	451	1	0	0	0	0	1	0	0	0	10043	826	29	2	21879	2	MUC16	19	9065474	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	4121232	9065474	50063509	295	88353											
SMARCA4	6597	broad.mit.edu	37	chr19	11100024	11100024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatcgcacaccgaattcagGaacttgaaaaccttcccggg	12	7	9	13	3	1	1	1	1	0	0	3	3	2	2	3	2	2	2	3	2	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:11100024G>A	ENST00000358026.2	+	7	1434	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	SMARCA4_ENST00000429416.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E384K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E384K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E384K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	384					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAATTCAGGAACTTGAAAA	0.607			"F, N, Mis"		NSCLC								18	150					0	0	0	0	A	11100024	G	A	11100024	3	1	451	1	0	0	0	0	1	0	0	0	14858	1175	41	2	1172	2	SMARCA4	19	11100024	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2034550	11100024	48028959	296	88354											
TNPO2	30000	broad.mit.edu	37	chr19	12817099	12817099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtgctggtatttcccaaAggcaaagacaagggtgtcca	11	10	11	9	0	0	1	0	0	0	1	2	1	2	1	2	3	1	3	2	3	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:12817099A>G	ENST00000425528.1	-	15	1936	c.1579T>C	c.(1579-1581)Ttt>Ctt	p.F527L	TNPO2_ENST00000588216.1_Missense_Mutation_p.F527L|TNPO2_ENST00000450764.2_Missense_Mutation_p.F527L|TNPO2_ENST00000356861.5_Missense_Mutation_p.F527L|TNPO2_ENST00000592287.1_Missense_Mutation_p.F527L|TNPO2_ENST00000441499.1_Missense_Mutation_p.F527L			O14787	TNPO2_HUMAN	transportin 2	527					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATTTCCCAAAGGCAAAGACA	0.592													10	83					0	0	0	0	G	12817099	A	G	12817099	3	3	451	1	0	0	0	0	1	0	0	0	16430	72	3	5	1158	5	TNPO2	19	12817099	Missense_Mutation	SNP	A	TCGA-MT-A67F-01A-11D-A30E-08	1717075	12817099	46311884	297	88355											
MAST1	22983	broad.mit.edu	37	chr19	12958754	12958754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatggcgtgctcagcttCatccaccaccagatcatcga	9	8	9	15	3	3	1	3	0	0	1	5	3	4	1	4	1	2	2	4	1	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:12958754C>A	ENST00000251472.4	+	7	696	c.657C>A	c.(655-657)ttC>ttA	p.F219L	MAST1_ENST00000591495.1_Missense_Mutation_p.F215L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	219					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGCTCAGCTTCATCCACCACC	0.617											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					0.184627	0.184627	1	0	A	12958754	C	A	12958754	3	1	451	1	0	0	0	0	1	0	0	0	9393	825	29	2	683	2	MAST1	19	12958754	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	141655	12958754	46170229	298	88356											
NFIX	4784	broad.mit.edu	37	chr19	13184299	13184299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgtgacggagctggtgaGagtatcacagagtaagtgag	13	8	16	4	1	1	4	1	3	0	2	1	7	1	5	0	2	1	3	0	2	3	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:13184299G>A	ENST00000358552.3	+	3	683	c.683G>A	c.(682-684)aGa>aAa	p.R228K	NFIX_ENST00000397661.2_Missense_Mutation_p.R229K|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000585575.1_Missense_Mutation_p.R221K|NFIX_ENST00000360105.4_Missense_Mutation_p.R232K|NFIX_ENST00000587760.1_Missense_Mutation_p.R221K|NFIX_ENST00000587260.1_Missense_Mutation_p.R228K|NFIX_ENST00000592199.1_Missense_Mutation_p.R229K|NFIX_ENST00000588228.1_Missense_Mutation_p.R182K			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	229					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GAGCTGGTGAGAGTATCACAG	0.527													14	70					0	0	0	0	A	13184299	G	A	13184299	3	1	451	1	0	0	0	0	1	0	0	0	10444	942	33	2	700	2	NFIX	19	13184299	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	225545	13184299	45944684	299	88357											
CACNA1A	773	broad.mit.edu	37	chr19	13341014	13341014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgatgacggcgacaaagaGattcagcatctgtggggacc	12	7	13	9	2	2	3	1	2	1	1	2	6	2	4	1	3	1	1	1	3	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:13341014G>A	ENST00000360228.5	-	36	5409	c.5410C>T	c.(5410-5412)Ctc>Ttc	p.L1804F	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805F|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1805					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGACAAAGAGATTCAGCATC	0.572													4	49					0	0	0	0	A	13341014	G	A	13341014	3	1	451	1	0	0	0	0	1	0	0	0	2563	942	33	2	2259	2	CACNA1A	19	13341014	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	156715	13341014	45787969	300	88358											
CC2D1A	54862	broad.mit.edu	37	chr19	14024040	14024040	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcaggagaggctggcgctCtatcagacagcaattgaaag	12	8	13	8	1	2	3	1	1	1	2	2	4	2	3	0	3	2	4	0	3	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:14024040C>G	ENST00000318003.7	+	5	679	c.438C>G	c.(436-438)ctC>ctG	p.L146L	CC2D1A_ENST00000589606.1_Silent_p.L146L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	146					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTGGCGCTCTATCAGACAG	0.627													5	45					0	0	0	0	G	14024040	C	G	14024040	2	3	451	1	0	0	0	0	0	0	0	1	2751	900	32	2		2	CC2D1A	19	14024040	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	683026	14024040	45104943	301	88359											
PKN1	5585	broad.mit.edu	37	chr19	14580239	14580239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggctgtttccagacacCggagcacgtgtgcttcgtga	6	11	12	12	4	0	2	0	1	0	1	3	3	1	3	2	2	2	4	2	2	0	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:14580239C>T	ENST00000242783.6	+	16	2228	c.2063C>T	c.(2062-2064)cCg>cTg	p.P688L	PKN1_ENST00000342216.4_Missense_Mutation_p.P694L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	688	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TTCCAGACACCGGAGCACGTG	0.622													4	156					0	0	0	0	T	14580239	C	T	14580239	3	4	451	1	0	0	0	0	1	0	0	0	12051	652	23	1	2168	1	PKN1	19	14580239	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	556199	14580239	44548744	302	88360											
SYDE1	85360	broad.mit.edu	37	chr19	15224386	15224386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagatccccgcctgccccGacaatctccagatgtcgcgc	7	8	8	18	4	2	2	1	0	1	2	5	3	3	2	6	0	1	0	6	0	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:15224386G>A	ENST00000600252.1	+	5	2433	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	SYDE1_ENST00000600440.1_Missense_Mutation_p.R540Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.R607Q			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	607					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCCTGCCCCGACAATCTCCA	0.617													5	263					0	0	0	0	A	15224386	G	A	15224386	3	1	451	1	0	0	0	0	1	0	0	0	15526	1058	37	1	1850	1	SYDE1	19	15224386	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	644147	15224386	43904597	303	88361											
ZNF91	7644	broad.mit.edu	37	chr19	23557444	23557444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaaagttttccttacccagGaaggccaggtttctgtagtt	9	15	9	8	0	1	0	0	0	1	0	2	1	2	1	3	3	1	4	3	3	5	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:23557444G>A	ENST00000300619.7	-	2	358	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ZNF91_ENST00000599743.1_Silent_p.F51F|ZNF91_ENST00000397082.2_Silent_p.F51F	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	51	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCTTACCCAGGAAGGCCAGGT	0.353													17	137					0	0	0	0	A	23557444	G	A	23557444	2	1	451	1	0	0	0	0	0	0	0	1	18293	1165	41	2		2	ZNF91	19	23557444	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	8333058	23557444	35571539	304	88362											
NFKBID	84807	broad.mit.edu	37	chr19	36386983	36386983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacagaggtcggaagggcGcatagcaacgttaagggcca	12	4	17	8	3	0	1	0	0	0	1	1	3	0	3	1	5	2	3	1	5	4	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:36386983G>A	ENST00000396901.1	-	9	1078	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	NFKBID_ENST00000606253.1_Missense_Mutation_p.R169C|NFKBID_ENST00000352614.2_Missense_Mutation_p.R321C	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	169					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TCGGAAGGGCGCATAGCAACG	0.622													4	141					0	0	0	0	A	36386983	G	A	36386983	3	1	451	1	0	0	0	0	1	0	0	0	10449	1087	38	1	452	1	NFKBID	19	36386983	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	12829539	36386983	22742000	305	88363											
ZNF585A	199704	broad.mit.edu	37	chr19	37643489	37643489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacagtgaccacatttatGaggtttctctccagtatgaa	11	12	7	11	0	1	3	0	3	1	0	3	3	2	3	3	1	0	2	3	1	3	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:37643489G>C	ENST00000356958.4	-	5	1570	c.1312C>G	c.(1312-1314)Cat>Gat	p.H438D	ZNF585A_ENST00000392157.2_Missense_Mutation_p.H383D|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H383D			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACATTTATGAGGTTTCTCT	0.388													16	138					0	0	0	0	C	37643489	G	C	37643489	3	2	451	1	0	0	0	0	1	0	0	0	18112	1290	45	2	1001	2	ZNF585A	19	37643489	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1256506	37643489	21485494	306	88364											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572705	38572705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggccttcctcccccttcGgcaccgcagcagcagcgaga	7	5	11	18	3	0	1	0	0	0	1	3	2	2	1	5	2	3	4	5	2	0	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:38572705G>A	ENST00000222345.6	+	3	1009	c.500G>A	c.(499-501)cGg>cAg	p.R167Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	167					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCCCCTTCGGCACCGCAGC	0.721													27	122					0	0	0	0	A	38572705	G	A	38572705	3	1	451	1	0	0	0	0	1	0	0	0	14419	1116	39	1	502	1	SIPA1L3	19	38572705	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	929216	38572705	20556278	307	88365											
FCGBP	8857	broad.mit.edu	37	chr19	40368749	40368749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagcgtcacgtctaccCgccagttccagtcatagctg	7	9	12	13	3	3	0	2	0	1	0	4	1	4	1	3	2	3	2	3	2	2	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:40368749C>T	ENST00000221347.6	-	28	12606	c.12599G>A	c.(12598-12600)cGg>cAg	p.R4200Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10.					extracellular region	protein binding	p.R4200L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGTCTACCCGCCAGTTCCA	0.607													5	196					0	0	0	0	T	40368749	C	T	40368749	3	4	451	1	0	0	0	0	1	0	0	0	5823	652	23	1	3654	1	FCGBP	19	40368749	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1796044	40368749	18760234	308	88366											
SPTBN4	57731	broad.mit.edu	37	chr19	41008819	41008819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggagagctggctgaatgaGaaccagcgtctggtctccca	10	7	14	10	1	2	3	0	2	2	2	3	5	2	3	2	3	3	2	2	3	2	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:41008819G>C	ENST00000352632.3	+	11	1427	c.1341G>C	c.(1339-1341)gaG>gaC	p.E447D	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E447D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E447D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E447D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	447					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCTGAATGAGAACCAGCGTC	0.597													19	133					0	0	0	0	C	41008819	G	C	41008819	3	2	451	1	0	0	0	0	1	0	0	0	15211	933	33	2	1379	2	SPTBN4	19	41008819	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	640070	41008819	18120164	309	88367											
NUMBL	9253	broad.mit.edu	37	chr19	41188818	41188818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttcagcttcttcaccGcatcttcacacacgtgcatt	7	12	5	17	3	5	0	3	0	2	0	5	0	5	0	3	0	2	3	3	0	0	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:41188818G>A	ENST00000252891.4	-	4	472	c.305C>T	c.(304-306)gCg>gTg	p.A102V	NUMBL_ENST00000598779.1_Missense_Mutation_p.A61V|NUMBL_ENST00000540131.1_Missense_Mutation_p.A61V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	102	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CTTCTTCACCGCATCTTCACA	0.617													4	137					0	0	0	0	A	41188818	G	A	41188818	3	1	451	1	0	0	0	0	1	0	0	0	10823	1087	38	1	1552	1	NUMBL	19	41188818	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	179999	41188818	17940165	310	88368											
TSKS	60385	broad.mit.edu	37	chr19	50247650	50247650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaagccacagacactgctGaccgctccaccctgaggcat	10	6	10	15	1	0	4	0	3	0	1	1	4	1	4	4	1	2	3	4	1	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:50247650G>A	ENST00000246801.3	-	8	1281	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	TSKS_ENST00000358830.3_Missense_Mutation_p.S200L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	400							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGACACTGCTGACCGCTCCAC	0.572													14	86					0	0	0	0	A	50247650	G	A	50247650	3	1	451	1	0	0	0	0	1	0	0	0	16721	1294	45	2	595	2	TSKS	19	50247650	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9058832	50247650	8881333	311	88369											
SIRPB2	284759	broad.mit.edu	37	chr20	1456880	1456880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgtggtcttgacatcttCttgcccagggctcctccgag	4	12	11	14	1	3	1	0	1	3	0	5	2	5	1	4	2	1	1	4	2	0	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:1456880C>T	ENST00000359801.3	-	5	997	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	SIRPB2_ENST00000444444.1_Missense_Mutation_p.E223K	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	321						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGACATCTTCTTGCCCAGGG	0.597													20	117					0	0	0	0	T	1456880	C	T	1456880	3	4	451	1	0	0	0	0	1	0	0	0	14422	922	32	2	71	2	SIRPB2	20	1456880	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		1456880	61568640	312	88370											
TMC2	117532	broad.mit.edu	37	chr20	2596827	2596827	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggaaatgtgctgggtttGatcttcaaccaaggaatgat	12	12	12	5	0	2	2	1	2	1	0	2	4	2	4	1	3	2	2	1	3	4	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:2596827G>C	ENST00000358864.1	+	15	1932	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	639						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTGGGTTTGATCTTCAACC	0.438													7	52					0	0	0	0	C	2596827	G	C	2596827	3	2	451	1	0	0	0	0	1	0	0	0	16079	1281	45	2	1975	2	TMC2	20	2596827	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	1139947	2596827	60428693	313	88371											
THBD	7056	broad.mit.edu	37	chr20	23029290	23029290	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggtcgttgcaggactgcgtCgcggatgcggtgcaggagcg	6	7	19	9	6	0	0	0	0	0	0	2	3	0	3	0	5	5	3	0	5	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:23029290C>G	ENST00000377103.2	-	1	1088	c.852G>C	c.(850-852)gcG>gcC	p.A284A		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	284	EGF-like 2.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AGGACTGCGTCGCGGATGCGG	0.716													6	22					0	0	0	0	G	23029290	C	G	23029290	2	3	451	1	0	0	0	0	0	0	0	1	15946	871	31	3		3	THBD	20	23029290	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	20432463	23029290	39996230	314	88372											
ASXL1	171023	broad.mit.edu	37	chr20	30954193	30954193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatatttcttcaggtattaGaaaactactcggatgctcca	12	15	6	8	1	2	1	1	0	1	1	4	2	3	2	1	2	3	2	1	2	7	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:30954193G>A	ENST00000375687.4	+	2	488	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E18K|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Missense_Mutation_p.E22K|ASXL1_ENST00000375689.1_Missense_Mutation_p.E18K	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	22					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCAGGTATTAGAAAACTACTC	0.373			"F, N, Mis"		"MDS, CMML"								8	79					0	0	0	0	A	30954193	G	A	30954193	3	1	451	1	0	0	0	0	1	0	0	0	1070	943	33	2	70	2	ASXL1	20	30954193	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7924903	30954193	32071327	315	88373											
ASXL1	171023	broad.mit.edu	37	chr20	31021384	31021384	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagactgacccagcagggctGagcagtccccatctgccagg	10	5	12	14	0	1	3	0	2	1	1	2	3	2	3	4	2	3	3	4	2	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:31021384G>C	ENST00000375687.4	+	12	1807	c.1383G>C	c.(1381-1383)ctG>ctC	p.L461L	ASXL1_ENST00000306058.5_Silent_p.L456L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	461					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGCAGGGCTGAGCAGTCCCC	0.582			"F, N, Mis"		"MDS, CMML"								31	182					0	0	0	0	C	31021384	G	C	31021384	2	2	451	1	0	0	0	0	0	0	0	1	1070	1277	45	2		2	ASXL1	20	31021384	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	67191	31021384	32004136	316	88374											
CEP250	11190	broad.mit.edu	37	chr20	34090925	34090925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtgccagcaaaaactgatCaaggagctggagggccagag	14	4	15	8	0	1	2	1	1	0	1	1	5	1	4	2	3	4	2	2	3	3	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:34090925C>G	ENST00000397527.1	+	30	5448	c.4728C>G	c.(4726-4728)atC>atG	p.I1576M	CEP250_ENST00000342580.4_Missense_Mutation_p.I1520M	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1576	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAAAACTGATCAAGGAGCTGG	0.542													3	52					0	0	0	0	G	34090925	C	G	34090925	3	3	451	1	0	0	0	0	1	0	0	0	3281	816	29	2	4834	2	CEP250	20	34090925	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3069541	34090925	28934595	317	88375											
CTNNBL1	56259	broad.mit.edu	37	chr20	36407619	36407619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacaatcccagcacggctGaggagcaggagatgatggag	13	4	15	9	1	0	3	0	2	0	1	1	7	1	5	1	4	2	3	1	4	1	0			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:36407619G>A	ENST00000405275.2	+	11	1075	c.832G>A	c.(832-834)Gag>Aag	p.E278K	CTNNBL1_ENST00000361383.6_Missense_Mutation_p.E305K|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E118K|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E53K			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	305					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGCACGGCTGAGGAGCAGGA	0.473													11	52					0	0	0	0	A	36407619	G	A	36407619	3	1	451	1	0	0	0	0	1	0	0	0	4050	1291	45	2	951	2	CTNNBL1	20	36407619	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	2316694	36407619	26617901	318	88376											
SLC32A1	140679	broad.mit.edu	37	chr20	37356794	37356794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgcctacctcacctgggccGacgagaccaaggaggtcatc	9	6	11	15	3	2	1	2	0	0	1	4	4	2	2	5	3	1	0	5	3	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:37356794G>A	ENST00000217420.1	+	2	1353	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	364					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CACCTGGGCCGACGAGACCAA	0.627													6	66					0	0	0	0	A	37356794	G	A	37356794	3	1	451	1	0	0	0	0	1	0	0	0	14653	1058	37	1	1096	1	SLC32A1	20	37356794	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	949175	37356794	25668726	319	88377											
LPIN3	64900	broad.mit.edu	37	chr20	39984669	39984669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctccgcctctcctccgatCagatcgtaagtgtgggttgt	5	12	10	14	3	2	1	1	0	1	1	6	2	4	1	5	1	0	2	5	1	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:39984669C>G	ENST00000373257.3	+	14	1889	c.1798C>G	c.(1798-1800)Cag>Gag	p.Q600E		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	600	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTCCTCCGATCAGATCGTAAG	0.587													7	65					0	0	0	0	G	39984669	C	G	39984669	3	3	451	1	0	0	0	0	1	0	0	0	8984	827	29	2	1848	2	LPIN3	20	39984669	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2627875	39984669	23040851	320	88378											
PABPC1L	80336	broad.mit.edu	37	chr20	43559286	43559286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagtacatgcagcgcctCtccaccatgcggaccctgag	10	6	9	16	2	1	1	0	1	1	0	2	2	1	2	5	1	5	2	5	1	2	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:43559286C>T	ENST00000255136.3	+	8	1240	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217073.2_Silent_p.L386L|PABPC1L_ENST00000537323.1_3'UTR	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	386							nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCAGCGCCTCTCCACCATGC	0.647													43	291					0	0	0	0	T	43559286	C	T	43559286	2	4	451	1	0	0	0	0	0	0	0	1	11435	900	32	2		2	PABPC1L	20	43559286	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3574617	43559286	19466234	321	88379											
WFDC13	164237	broad.mit.edu	37	chr20	44333211	44333211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggatagtctgttcatcaGaaacatttcaaaagcgcaac	14	10	9	8	1	4	1	3	0	1	1	4	2	4	2	0	1	3	2	0	1	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:44333211G>A	ENST00000305479.2	+	2	325	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	WFDC10B_ENST00000335769.2_Intron|WFDC10B_ENST00000330523.5_Intron	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	73						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				CTGTTCATCAGAAACATTTCA	0.468													21	117					0	0	0	0	A	44333211	G	A	44333211	3	1	451	1	0	0	0	0	1	0	0	0	17447	943	33	2	223	2	WFDC13	20	44333211	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	773925	44333211	18692309	322	88380											
PPDPF	79144	broad.mit.edu	37	chr20	62153098	62153098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcccgttcatggccacgGtgttggagtccgcagagcac	6	8	12	15	3	1	1	1	0	0	1	3	2	3	2	4	3	1	4	4	3	0	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:62153098G>A	ENST00000370179.3	+	4	407	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	PPDPF_ENST00000473620.1_3'UTR|PPDPF_ENST00000370177.1_Missense_Mutation_p.V97M	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	71					cell differentiation|multicellular organismal development					kidney(1)|lung(2)|ovary(1)	4						CATGGCCACGGTGTTGGAGTC	0.657													10	50					0	0	0	0	A	62153098	G	A	62153098	3	1	451	1	0	0	0	0	1	0	0	0	12377	1261	44	4	221	4	PPDPF	20	62153098	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	17819887	62153098	872422	323	88381											
UCKL1	54963	broad.mit.edu	37	chr20	62575962	62575962	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggtcgaaggagggcttGacaaacttgttgtactgctt	9	13	12	7	1	0	1	0	1	0	0	1	3	0	2	0	3	4	4	0	3	4	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:62575962G>T	ENST00000369908.5	-	6	1034	c.735C>A	c.(733-735)gtC>gtA	p.V245V	UCKL1_ENST00000354216.6_Silent_p.V260V|UCKL1_ENST00000369892.3_Silent_p.V260V|UCKL1_ENST00000358711.3_Silent_p.V260V	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	260					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGAGGGCTTGACAAACTTGT	0.632													5	31					0.0215528	0.0216022	1	0	T	62575962	G	T	62575962	2	4	451	1	0	0	0	0	0	0	0	1	17021	1277	45	2		2	UCKL1	20	62575962	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	422864	62575962	449558	324	88382											
TMEM50B	757	broad.mit.edu	37	chr21	34839412	34839412	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagctgcatcaatcattatCcaccagcctgtaaaaaactt	15	10	4	12	0	2	0	2	0	0	0	3	0	3	0	3	0	4	3	3	0	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:34839412C>T	ENST00000542230.2	-	3	331	c.117G>A	c.(115-117)tgG>tgA	p.W39*		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	39						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CAATCATTATCCACCAGCCTG	0.398													9	44					0	0	0	0	T	34839412	C	T	34839412	4	4	451	1	0	0	0	0	0	1	0	0	16270	856	30	2	379	2	TMEM50B	21	34839412	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		34839412	13290483	325	88383											
TTC3	7267	broad.mit.edu	37	chr21	38529114	38529114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctgagccagcatcattGaaggaagcccgttgtttaat	10	13	9	9	1	2	2	1	2	1	0	3	3	2	3	2	1	3	3	2	1	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:38529114G>A	ENST00000399017.2	+	28	5645	c.2898G>A	c.(2896-2898)ttG>ttA	p.L966L	TTC3_ENST00000355666.1_Silent_p.L966L|TTC3_ENST00000354749.2_Silent_p.L966L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	966					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGCATCATTGAAGGAAGCCC	0.373													17	115					0	0	0	0	A	38529114	G	A	38529114	2	1	451	1	0	0	0	0	0	0	0	1	16793	1281	45	2		2	TTC3	21	38529114	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	3689702	38529114	9600781	326	88384											
AGPAT3	56894	broad.mit.edu	37	chr21	45402220	45402220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagactgataggagtaactGagatagaaaaaggctccagc	16	6	12	7	0	0	4	0	2	0	3	1	6	1	5	1	2	2	3	1	2	5	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:45402220G>C	ENST00000398063.2	+	9	1570	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360Q|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360Q	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	360				VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067).	phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGAGTAACTGAGATAGAAAA	0.453													32	251					0	0	0	0	C	45402220	G	C	45402220	3	2	451	1	0	0	0	0	1	0	0	0	388	1291	45	2	1108	2	AGPAT3	21	45402220	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	6873106	45402220	2727675	327	88385											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057586	46057586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagctgccagccggattgCtgcacctcctccccctgcca	5	9	8	19	1	1	0	0	0	1	0	3	1	3	1	7	1	6	3	7	1	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:46057586C>T	ENST00000380095.1	+	1	314	c.252C>T	c.(250-252)tgC>tgT	p.C84C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	84	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGCCGGATTGCTGCACCTCCT	0.642													29	180					0	0	0	0	T	46057586	C	T	46057586	2	4	451	1	0	0	0	0	0	0	0	1	8558	805	28	4		4	KRTAP10-10	21	46057586	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	655366	46057586	2072309	328	88386											
COL18A1	80781	broad.mit.edu	37	chr21	46900630	46900630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcctcgaggcttccCtggacctcccggaccccccg	4	6	11	20	3	0	0	0	0	0	0	4	3	3	2	8	4	0	1	8	4	0	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:46900630C>T	ENST00000359759.4	+	12	2735	c.2714C>T	c.(2713-2715)cCt>cTt	p.P905L	COL18A1_ENST00000355480.5_Missense_Mutation_p.P670L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P490L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	905	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGAGGCTTCCCTGGACCTCCC	0.697													10	59					0	0	0	0	T	46900630	C	T	46900630	3	4	451	1	0	0	0	0	1	0	0	0	3705	681	24	4	2874	4	COL18A1	21	46900630	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	843044	46900630	1229265	329	88387											
COL6A1	1291	broad.mit.edu	37	chr21	47417353	47417353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcgaggctggccctatcGgacctaaaggctaccgaggc	9	5	15	12	3	0	0	0	0	0	0	1	3	0	1	3	6	1	2	3	6	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:47417353G>A	ENST00000361866.3	+	21	1531	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	473	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCCCTATCGGACCTAAAGG	0.652													4	83					0	0	0	0	A	47417353	G	A	47417353	3	1	451	1	0	0	0	0	1	0	0	0	3729	1117	39	1	1499	1	COL6A1	21	47417353	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	516723	47417353	712542	330	88388											
COL6A1	1291	broad.mit.edu	37	chr21	47423455	47423455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccgcccacgacgtgcGggtggcggtggtgcagtaca	6	5	17	13	5	0	0	0	0	0	0	0	2	0	1	3	5	3	2	3	5	1	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:47423455G>A	ENST00000361866.3	+	35	2729	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	872	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CACGACGTGCGGGTGGCGGTG	0.697													8	60					0	0	0	0	A	47423455	G	A	47423455	3	1	451	1	0	0	0	0	1	0	0	0	3729	1116	39	1	2753	1	COL6A1	21	47423455	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	6102	47423455	706440	331	88389											
TBX1	6899	broad.mit.edu	37	chr22	19766861	19766861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctggggctcccctgcccCgcagagtgccaacccttcaa	8	6	9	18	1	1	1	1	0	0	1	2	1	2	1	7	2	4	2	7	2	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:19766861C>T	ENST00000329705.7	+	9	1257	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	376					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TCCCCTGCCCCGCAGAGTGCC	0.597													7	82					0	0	0	0	T	19766861	C	T	19766861	2	4	451	1	0	0	0	0	0	0	0	1	15744	639	23	1		1	TBX1	22	19766861	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08		19766861	31537705	332	88390											
MAPK1	5594	broad.mit.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	10	11	9	11	3	2	1	1	1	1	0	5	2	2	2	1	2	4	2	1	2	4	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478													12	63					0	0	0	0	T	22127164	C	T	22127164	3	4	451	1	0	0	0	0	1	0	0	0	9340	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2360303	22127164	29177402	333	88391											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859948	31859948	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctttcacacgctctcGtggatctggaaggacgtggg	7	12	12	10	3	5	0	1	0	4	0	6	3	5	3	0	4	0	1	0	4	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:31859948G>A	ENST00000397525.1	-	5	527	c.304C>T	c.(304-306)Cga>Tga	p.R102*	RP11-247I13.11_ENST00000483736.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	102						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACACGCTCTCGTGGATCTGGA	0.502													4	88					0	0	0	0	A	31859948	G	A	31859948	4	1	451	1	0	0	0	0	0	1	0	0	5073	1153	40	1	2716	1	EIF4ENIF1	22	31859948	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9732784	31859948	19444618	334	88392											
CSNK1E	1454	broad.mit.edu	37	chr22	38698965	38698965	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcagctccatgaccatCacgttgtagtcgccctcagc	8	8	8	17	2	2	1	2	1	0	0	4	1	3	1	4	0	3	4	4	0	1	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:38698965C>G	ENST00000396832.1	-	4	497	c.237G>C	c.(235-237)gtG>gtC	p.V79V	CSNK1E_ENST00000400206.2_Silent_p.V79V|CSNK1E_ENST00000413574.2_Silent_p.V79V|CSNK1E_ENST00000405675.3_Silent_p.V79V|CSNK1E_ENST00000403904.1_Silent_p.V79V|CSNK1E_ENST00000359867.3_Silent_p.V79V	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	79	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CCATGACCATCACGTTGTAGT	0.617													8	92					0	0	0	0	G	38698965	C	G	38698965	2	3	451	1	0	0	0	0	0	0	0	1	3985	813	29	2		2	CSNK1E	22	38698965	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	6839017	38698965	12605601	335	88393											
TTLL12	23170	broad.mit.edu	37	chr22	43576835	43576835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtactgggcagctcaccgtgGaactcaatgcccatcaggtt	9	9	11	12	1	3	0	3	0	0	0	3	1	3	1	2	3	4	4	2	3	3	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:43576835G>C	ENST00000216129.6	-	3	522	c.459C>G	c.(457-459)ttC>ttG	p.F153L		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	153					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTCACCGTGGAACTCAATGC	0.652													26	138					0	0	0	0	C	43576835	G	C	43576835	3	2	451	1	0	0	0	0	1	0	0	0	16821	1165	41	2	1523	2	TTLL12	22	43576835	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4877870	43576835	7727731	336	88394											
TBC1D22A	25771	broad.mit.edu	37	chr22	47308042	47308042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttcagggtataaatgatCtcgtcactcctttctttgtg	8	16	8	9	2	4	1	2	1	2	0	6	1	5	1	1	1	0	2	1	1	3	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:47308042C>G	ENST00000337137.4	+	8	1139	c.973C>G	c.(973-975)Ctc>Gtc	p.L325V	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L247V|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L266V|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L278V	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	325	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TATAAATGATCTCGTCACTCC	0.398													17	116					0	0	0	0	G	47308042	C	G	47308042	3	3	451	1	0	0	0	0	1	0	0	0	15702	913	32	2	1003	2	TBC1D22A	22	47308042	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	3731207	47308042	3996524	337	88395											
MID1	4281	broad.mit.edu	37	chrX	10463668	10463668	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataatctgtcgtctttgctGaatgatctcaatgagaagat	13	14	8	6	1	3	4	1	3	3	2	5	5	3	4	0	0	1	1	0	0	5	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:10463668G>A	ENST00000317552.4	-	4	1220	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	MID1_ENST00000453318.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380782.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380779.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380780.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380785.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380787.1_Nonsense_Mutation_p.Q274*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	274					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGTCTTTGCTGAATGATCTCA	0.388													17	127					0	0	0	0	A	10463668	G	A	10463668	4	1	451	1	0	0	0	0	0	1	0	0	9645	1299	45	2	1211	2	MID1	23	10463668	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08		10463668	144806892	338	88396											
ARHGAP6	395	broad.mit.edu	37	chrX	11308547	11308547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaaagttacgatgtgtatCggaattcatcggtggttttg	9	15	12	5	3	2	0	2	0	0	0	4	2	2	1	0	3	1	3	0	3	4	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:11308547C>T	ENST00000380732.3	-	2	639	c.640G>A	c.(640-642)Gat>Aat	p.D214N	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	196					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGATGTGTATCGGAATTCATC	0.393													17	89					0	0	0	0	T	11308547	C	T	11308547	3	4	451	1	0	0	0	0	1	0	0	0	889	899	31	1		1	ARHGAP6	23	11308547	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	844879	11308547	143962013	339	88397											
TLR7	51284	broad.mit.edu	37	chrX	12904323	12904323	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttaacagaactatatctCtacaacaacatgattgcaaa	18	11	3	9	0	1	2	0	1	1	1	2	2	1	2	0	0	6	1	0	0	8	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:12904323C>G	ENST00000380659.3	+	3	835	c.696C>G	c.(694-696)ctC>ctG	p.L232L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	232					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AACTATATCTCTACAACAACA	0.358													13	75					0	0	0	0	G	12904323	C	G	12904323	2	3	451	1	0	0	0	0	0	0	0	1	16050	900	32	2		2	TLR7	23	12904323	Silent	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	1595776	12904323	142366237	340	88398											
ZNF645	158506	broad.mit.edu	37	chrX	22291314	22291314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctattaaaatctatgggcGaataattccgtgcaagcatg	13	11	9	8	2	1	0	0	0	1	0	2	1	2	0	2	1	2	2	2	1	7	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:22291314G>A	ENST00000323684.1	+	1	250	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383													15	79					0	0	0	0	A	22291314	G	A	22291314	3	1	451	1	0	0	0	0	1	0	0	0	18156	1058	37	1	208	1	ZNF645	23	22291314	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9386991	22291314	132979246	341	88399											
DMD	1756	broad.mit.edu	37	chrX	31279123	31279123	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtcccagcaagttgtttGagtctcgtggctaaaacaca	11	11	10	9	1	1	1	0	1	1	0	3	1	2	1	1	2	2	4	1	2	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:31279123G>A	ENST00000357033.4	-	63	9441	c.9235C>T	c.(9235-9237)Caa>Taa	p.Q3079*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q3075*|DMD_ENST00000378723.3_Nonsense_Mutation_p.Q11*|DMD_ENST00000378680.2_Nonsense_Mutation_p.Q11*|DMD_ENST00000474231.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378702.4_Nonsense_Mutation_p.Q11*|DMD_ENST00000361471.4_Nonsense_Mutation_p.Q11*|DMD_ENST00000343523.2_Nonsense_Mutation_p.Q619*|DMD_ENST00000359836.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378707.3_Nonsense_Mutation_p.Q619*|DMD_ENST00000541735.1_Nonsense_Mutation_p.Q619*	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	3079	Interaction with SYNM (By similarity).|WW.				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			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)				CAAGTTGTTTGAGTCTCGTGG	0.378													6	32					0	0	0	0	A	31279123	G	A	31279123	4	1	451	1	0	0	0	0	0	1	0	0	4617	1299	45	2	1980	2	DMD	23	31279123	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	8987809	31279123	123991437	342	88400											
USP9X	8239	broad.mit.edu	37	chrX	41027443	41027443	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgacagtgattatcatGaggaaagaacaattctccct	15	11	8	7	0	2	4	1	3	1	1	3	5	2	5	1	1	1	0	1	1	5	2			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:41027443G>T	ENST00000324545.7	+	18	3241	c.2608G>T	c.(2608-2610)Gag>Tag	p.E870*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.E870*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	870					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGATTATCATGAGGAAAGAAC	0.333													5	72					0.014758	0.0148258	1	0	T	41027443	G	T	41027443	4	4	451	1	0	0	0	0	0	1	0	0	17186	1291	45	2	2674	2	USP9X	23	41027443	Nonsense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	9748320	41027443	114243117	343	88401											
SSX1	6756	broad.mit.edu	37	chrX	48117231	48117231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaagagtggaaaaagatGaaatactcggagaaaatcag	22	5	11	3	1	1	5	1	1	0	4	2	7	1	6	0	2	1	0	0	2	8	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:48117231G>A	ENST00000376919.3	+	3	256	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	40	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GGAAAAAGATGAAATACTCGG	0.358			T	SS18	synovial sarcoma								4	50					0	0	0	0	A	48117231	G	A	48117231	3	1	451	1	0	0	0	0	1	0	0	0	15293	1290	45	2	126	2	SSX1	23	48117231	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7089788	48117231	107153329	344	88402											
HUWE1	10075	broad.mit.edu	37	chrX	53563110	53563110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggatttcctgacctacctCagtgctgaaggtgaggtcat	9	12	11	9	0	2	3	2	3	0	0	3	4	3	4	3	3	2	1	3	3	3	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:53563110C>T	ENST00000342160.3	-	79	12986	c.12529G>A	c.(12529-12531)Gag>Aag	p.E4177K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4177	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.E4067K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCTACCTCAGTGCTGAAG	0.458													7	32					0	0	0	0	T	53563110	C	T	53563110	3	4	451	1	0	0	0	0	1	0	0	0	7514	835	29	2	615	2	HUWE1	23	53563110	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5445879	53563110	101707450	345	88403											
MED12	9968	broad.mit.edu	37	chrX	70357476	70357476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcttcctacggtttgcaGacttcccaggtaagagcctg	8	11	10	12	1	1	2	0	0	1	2	3	2	3	2	3	2	4	4	3	2	2	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:70357476G>C	ENST00000333646.6	+	40	6025	c.5826G>C	c.(5824-5826)caG>caC	p.Q1942H	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_Missense_Mutation_p.Q1939H|MED12_ENST00000374102.1_Missense_Mutation_p.Q1938H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1939	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACGGTTTGCAGACTTCCCAGG	0.527			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	34					0	0	0	0	C	70357476	G	C	70357476	3	2	451	1	0	0	0	0	1	0	0	0	9497	933	33	2	5975	2	MED12	23	70357476	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	16794366	70357476	84913084	346	88404											
GPRASP1	9737	broad.mit.edu	37	chrX	101909130	101909130	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagcccagatgtgggctCagcccaggtttggtgctgaa	10	8	14	9	0	1	3	1	1	0	2	1	3	1	3	2	3	3	3	2	3	3	1			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:101909130C>T	ENST00000537097.1	+	6	1102	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q97*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	97						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GATGTGGGCTCAGCCCAGGTT	0.493													19	259					0	0	0	0	T	101909130	C	T	101909130	4	4	451	1	0	0	0	0	0	1	0	0	6772	827	29	2	291	2	GPRASP1	23	101909130	Nonsense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	31551654	101909130	53361430	347	88405											
PRPS1	5631	broad.mit.edu	37	chrX	106882528	106882528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcctcattgtagtgtGgaaattggtgaaagtgtacg	9	16	11	5	1	2	1	1	1	1	0	3	2	3	2	1	2	1	2	1	2	4	6			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:106882528G>A	ENST00000372435.4	+	2	248	c.126G>A	c.(124-126)gtG>gtA	p.V42V	PRPS1_ENST00000372419.3_Silent_p.V42V|PRPS1_ENST00000372428.4_5'UTR|PRPS1_ENST00000543248.1_Silent_p.V42V	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	42					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						ATTGTAGTGTGGAAATTGGTG	0.383													43	200					0	0	0	0	A	106882528	G	A	106882528	2	1	451	1	0	0	0	0	0	0	0	1	12658	1335	47	4		4	PRPS1	23	106882528	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	4973398	106882528	48388032	348	88406											
IL13RA2	3598	broad.mit.edu	37	chrX	114251809	114251809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaaggtatataagcatccGatagccaagcaaacgaaagc	19	5	9	8	2	0	1	0	0	0	1	1	3	1	1	2	1	5	3	2	1	8	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:114251809G>A	ENST00000371936.1	-	3	273	c.24C>T	c.(22-24)atC>atT	p.I8I	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Silent_p.I8I			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	8				I -> V (in Ref. 4; BAF84646).		extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						ATAAGCATCCGATAGCCAAGC	0.323													5	104					0	0	0	0	A	114251809	G	A	114251809	2	1	451	1	0	0	0	0	0	0	0	1	7683	1048	37	1		1	IL13RA2	23	114251809	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	7369281	114251809	41018751	349	88407											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760659	119760659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttgtaagcttttctcatCattaaccacatgtcatttgt	10	19	4	8	0	3	0	3	0	1	0	4	0	3	0	1	0	2	2	1	0	3	7			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:119760659C>G	ENST00000304661.5	-	2	601	c.363G>C	c.(361-363)atG>atC	p.M121I	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.M121I	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	121						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						CTTTTCTCATCATTAACCACA	0.373													16	94					0	0	0	0	G	119760659	C	G	119760659	3	3	451	1	0	0	0	0	1	0	0	0	1972	826	29	2	597	2	C1GALT1C1	23	119760659	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	5508850	119760659	35509901	350	88408											
SMARCA1	6594	broad.mit.edu	37	chrX	128642066	128642066	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatcatttcatcacgaataAaagcagcctaatgcaaaata	18	9	5	9	1	3	0	3	0	0	0	3	1	3	0	1	0	3	3	1	0	7	4			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:128642066A>C	ENST00000371122.4	-	7	947	c.818T>G	c.(817-819)tTt>tGt	p.F273C	SMARCA1_ENST00000371123.1_Missense_Mutation_p.F273C|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.F273C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	273	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATCACGAATAAAAGCAGCCTA	0.274													6	31					0	0	0	0	C	128642066	A	C	128642066	3	2	451	1	0	0	0	0	1	0	0	0	14856	14	1	5	2418	5	SMARCA1	23	128642066	Missense_Mutation	SNP	A	TCGA-MT-A67F-01A-11D-A30E-08	8881407	128642066	26628494	351	88409											
RAP2C	57826	broad.mit.edu	37	chrX	131351188	131351188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttgcggtagaaatcttCaatggtggggtcatatttct	8	16	10	7	1	5	1	2	0	3	1	5	1	5	1	0	4	1	1	0	4	4	5			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:131351188C>T	ENST00000342983.2	-	2	855	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.E37K|RAP2C_ENST00000460462.1_Intron	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	37					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TAGAAATCTTCAATGGTGGGG	0.493													59	261					0	0	0	0	T	131351188	C	T	131351188	3	4	451	1	0	0	0	0	1	0	0	0	13124	835	29	2	450	2	RAP2C	23	131351188	Missense_Mutation	SNP	C	TCGA-MT-A67F-01A-11D-A30E-08	2709122	131351188	23919372	352	88410											
ATP2B3	492	broad.mit.edu	37	chrX	152818725	152818725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaggaccctgtgcggcccGaggtagccaccaccttctct	6	9	11	15	2	1	1	0	1	1	0	2	3	1	2	5	3	2	1	5	3	1	3			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:152818725G>A	ENST00000370186.1	+	11	2340	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	ATP2B3_ENST00000263519.4_Missense_Mutation_p.E686K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E672K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E686K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E672K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E686K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	686					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGCGGCCCGAGGTAGCCAC	0.627													11	76					0	0	0	0	A	152818725	G	A	152818725	3	1	451	1	0	0	0	0	1	0	0	0	1145	1059	37	1	2098	1	ATP2B3	23	152818725	Missense_Mutation	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	21467537	152818725	2451835	353	88411											
PLXNA3	55558	broad.mit.edu	37	chrX	153690647	153690647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcgcagcggcagcttgaaGaaggtggcccccagagccct	9	4	14	14	3	0	3	0	1	0	2	0	3	0	3	3	3	3	3	3	3	2	1	rs145756790	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:153690647G>A	ENST00000369682.3	+	4	1489	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	438	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGCTTGAAGAAGGTGGCCC	0.652													5	79					0	0	0	0	A	153690647	G	A	153690647	2	1	451	1	0	0	0	0	0	0	0	1	12193	933	33	2		2	PLXNA3	23	153690647	Silent	SNP	G	TCGA-MT-A67F-01A-11D-A30E-08	871922	153690647	1579913	354	88412											
CSMD2	114784	broad.mit.edu	37	chr1	34158623	34158623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggtgacagcacctgccccGacacctctcctctcactgtc	6	8	8	19	2	2	1	1	1	2	0	5	2	2	1	5	1	2	1	5	1	0	0			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:34158623G>A	ENST00000373381.4	-	25	4135	c.3959C>T	c.(3958-3960)tCg>tTg	p.S1320L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S193L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1280	CUB 8.					integral to membrane|plasma membrane	protein binding	p.S1280L(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)				CACCTGCCCCGACACCTCTCC	0.572													4	195					0	0	0	0	A	34158623	G	A	34158623	3	1	452	1	0	0	0	0	1	0	0	0	3977	1059	37	1	6804	1	CSMD2	1	34158623	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		34158623	215091998	1	88413											
FCRLA	84824	broad.mit.edu	37	chr1	161681058	161681058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggacctgctggttctgcGctgccaggcctggcaagact	6	8	15	12	1	1	1	0	0	1	1	1	2	1	2	3	5	3	4	3	5	1	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:161681058G>A	ENST00000367959.2	+	4	604	c.362G>A	c.(361-363)cGc>cAc	p.R121H	FCRLA_ENST00000367953.3_Missense_Mutation_p.R104H|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.R98H|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.R104H|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.R115H	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	98	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGTTCTGCGCTGCCAGGCC	0.597													4	40					0	0	0	0	A	161681058	G	A	161681058	3	1	452	1	0	0	0	0	1	0	0	0	5845	1087	38	1	376	1	FCRLA	1	161681058	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	127522435	161681058	87569563	2	88414											
KIFAP3	22920	broad.mit.edu	37	chr1	169890826	169890826	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatactttatcaagatccAtagccatagtagtaaggttc	14	12	7	8	0	1	2	1	0	0	2	3	2	2	2	2	1	2	3	2	1	7	8			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:169890826A>G	ENST00000367765.1	-	20	3751	c.2250T>C	c.(2248-2250)taT>taC	p.Y750Y	KIFAP3_ENST00000367767.1_Silent_p.Y746Y|KIFAP3_ENST00000540905.1_Silent_p.Y492Y|KIFAP3_ENST00000361580.2_Silent_p.Y790Y|KIFAP3_ENST00000538366.1_Silent_p.Y712Y	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	790					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAAGATCCATAGCCATAGT	0.433													10	22					0	0	0	0	G	169890826	A	G	169890826	2	3	452	1	0	0	0	0	0	0	0	1	8362	224	8	5		5	KIFAP3	1	169890826	Silent	SNP	A	TCGA-MT-A67G-01A-11D-A30E-08	8209768	169890826	79359795	3	88415											
HHAT	55733	broad.mit.edu	37	chr1	210536201	210536201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttttttttggtcagaacacGaagaggagctggaccaggaa	12	11	12	6	1	1	2	1	0	0	2	1	6	1	5	1	4	2	1	1	4	3	4			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:210536201G>C	ENST00000367010.1	+	3	324	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	HHAT_ENST00000261458.3_Missense_Mutation_p.E33Q|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.E34Q|HHAT_ENST00000541565.1_Missense_Mutation_p.E33Q|HHAT_ENST00000391905.3_Missense_Mutation_p.E33Q|HHAT_ENST00000537898.1_Missense_Mutation_p.E33Q|HHAT_ENST00000413764.2_Missense_Mutation_p.E33Q	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCAGAACACGAAGAGGAGCT	0.398													22	61					0	0	0	0	C	210536201	G	C	210536201	3	2	452	1	0	0	0	0	1	0	0	0	7139	1059	37	3	201	3	HHAT	1	210536201	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	40645375	210536201	38714420	4	88416											
KIF26B	55083	broad.mit.edu	37	chr1	245862231	245862231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagattctggaacacCgccagcagaggatcgccgag	12	5	13	11	3	1	3	0	1	1	2	2	6	1	5	3	2	3	2	3	2	2	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:245862231C>T	ENST00000366518.4	+	11	5031	c.4927C>T	c.(4927-4929)Cgc>Tgc	p.R1643C	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTGGAACACCGCCAGCAGAG	0.567													7	70					0	0	0	0	T	245862231	C	T	245862231	3	4	452	1	0	0	0	0	1	0	0	0	8346	652	23	1	6124	1	KIF26B	1	245862231	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	35326030	245862231	3388390	5	88417											
GPR75	10936	broad.mit.edu	37	chr2	54081037	54081037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggactcttggtatatccaCgggtctgaacgtgctgcagt	7	12	13	9	2	2	1	0	1	2	0	3	2	3	2	1	3	3	3	1	3	3	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:54081037C>T	ENST00000394705.2	-	2	1127	c.857G>A	c.(856-858)cGt>cAt	p.R286H	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	286						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTATATCCACGGGTCTGAAC	0.557													3	41					0	0	0	0	T	54081037	C	T	54081037	3	4	452	1	0	0	0	0	1	0	0	0	6757	536	19	1	769	1	GPR75	2	54081037	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08		54081037	189118336	6	88418											
WDR33	55339	broad.mit.edu	37	chr2	128471226	128471226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgttcatctccgggcctgCggccttcccatgcccccgga	5	8	10	18	4	2	0	1	0	1	0	4	1	3	1	6	3	3	1	6	3	1	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:128471226C>T	ENST00000322313.4	-	18	3397	c.3239G>A	c.(3238-3240)cGc>cAc	p.R1080H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1080					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCGGGCCTGCGGCCTTCCCA	0.662													27	185					0	0	0	0	T	128471226	C	T	128471226	3	4	452	1	0	0	0	0	1	0	0	0	17383	768	27	1	791	1	WDR33	2	128471226	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	74390189	128471226	114728147	7	88419											
PDK1	5163	broad.mit.edu	37	chr2	173431653	173431653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaactagaacttgaagAactaaatggtaagcctgatg	15	9	9	8	1	0	4	0	2	0	2	1	5	1	4	2	1	4	1	2	1	8	4			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:173431653A>G	ENST00000410055.1	+	6	861	c.761A>G	c.(760-762)gAa>gGa	p.E254G	PDK1_ENST00000282077.2_Missense_Mutation_p.E254G|PDK1_ENST00000392571.2_Missense_Mutation_p.E274G|PDK1_ENST00000543905.1_Missense_Mutation_p.E178G|PDK1_ENST00000544863.1_Missense_Mutation_p.E99G	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	254	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			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GAACTTGAAGAACTAAATGGT	0.313									Autosomal Dominant Polycystic Kidney Disease				9	38					0	0	0	0	G	173431653	A	G	173431653	3	3	452	1	0	0	0	0	1	0	0	0	11746	246	9	5	783	5	PDK1	2	173431653	Missense_Mutation	SNP	A	TCGA-MT-A67G-01A-11D-A30E-08	44960427	173431653	69767720	8	88420											
TTN	7273	broad.mit.edu	37	chr2	179391793	179391793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtcagatccaaattcattCcctaaactcagggtataaag	15	10	7	9	0	3	1	3	0	0	1	5	2	5	1	2	1	1	1	2	1	6	5			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:179391793C>T	ENST00000589042.1	-	363	108146	c.107922G>A	c.(107920-107922)ggG>ggA	p.G35974G	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G34333G|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000359218.5_Silent_p.G27034G|TTN_ENST00000460472.2_Silent_p.G26909G|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.G27101G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.G33406G|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34333							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATTCATTCCCTAAACTCA	0.423													3	35					0	0	0	0	T	179391793	C	T	179391793	2	4	452	1	0	0	0	0	0	0	0	1	16831	842	30	2		2	TTN	2	179391793	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	5960140	179391793	63807580	9	88421											
RBM15B	29890	broad.mit.edu	37	chr3	51429255	51429255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagtacaagacgttgcTcatcagcagcttgagccccg	9	8	11	13	2	2	3	2	2	0	1	2	3	2	3	3	0	5	5	3	0	2	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:51429255T>A	ENST00000323686.4	+	1	525	c.425T>A	c.(424-426)cTc>cAc	p.L142H		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	142	RRM 1.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGACGTTGCTCATCAGCAGC	0.721													39	80					0	0	0	0	A	51429255	T	A	51429255	3	1	452	1	0	0	0	0	1	0	0	0	13199	1551	54	5	427	5	RBM15B	3	51429255	Missense_Mutation	SNP	T	TCGA-MT-A67G-01A-11D-A30E-08		51429255	146593175	10	88422											
DNAH1	25981	broad.mit.edu	37	chr3	52380763	52380763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacatggtctggggtgaCgacttaattaacagccccta	11	10	11	9	1	1	2	0	2	1	0	1	4	1	2	2	3	2	0	2	3	3	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:52380763C>T	ENST00000420323.2	+	11	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	644	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGGGGTGACGACTTAATTA	0.602													5	31					0	0	0	0	T	52380763	C	T	52380763	2	4	452	1	0	0	0	0	0	0	0	1	4634	535	19	1		1	DNAH1	3	52380763	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	951508	52380763	145641667	11	88423											
MORC1	27136	broad.mit.edu	37	chr3	108818259	108818259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaaaaacacacaggtcatCgtttcttccttcttcgtaaa	14	12	5	10	2	3	0	1	0	2	0	6	1	4	0	1	1	1	2	1	1	5	5			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:108818259C>T	ENST00000232603.5	-	6	451	c.369G>A	c.(367-369)acG>acA	p.T123T	MORC1_ENST00000483760.1_Silent_p.T123T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACAGGTCATCGTTTCTTCCT	0.343													4	47					0	0	0	0	T	108818259	C	T	108818259	2	4	452	1	0	0	0	0	0	0	0	1	9771	871	31	1		1	MORC1	3	108818259	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	56437496	108818259	89204171	12	88424											
MYLK	4638	broad.mit.edu	37	chr3	123452940	123452940	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggtggggagccacctctCtgggggctggagcagttctt	5	9	17	10	0	2	0	0	0	2	0	3	2	2	2	2	6	2	3	2	6	0	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:123452940C>T	ENST00000360772.3	-	11	1281	c.903G>A	c.(901-903)caG>caA	p.Q301Q	MYLK_ENST00000360304.3_Silent_p.Q301Q|MYLK_ENST00000346322.5_Silent_p.Q301Q|MYLK_ENST00000475616.1_Silent_p.Q301Q|MYLK_ENST00000359169.1_Silent_p.Q301Q			Q15746	MYLK_HUMAN	myosin light chain kinase	301					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCACCTCTCTGGGGGCTGG	0.587													9	78					0	0	0	0	T	123452940	C	T	123452940	2	4	452	1	0	0	0	0	0	0	0	1	10126	912	32	2		2	MYLK	3	123452940	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	14634681	123452940	74569490	13	88425											
HPS3	84343	broad.mit.edu	37	chr3	148858922	148858922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttacactggagtctacGggattagctgatgaaaaaag	13	11	11	6	1	2	2	0	2	2	0	2	4	2	4	0	2	3	2	0	2	6	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:148858922G>A	ENST00000296051.2	+	3	971	c.831G>A	c.(829-831)acG>acA	p.T277T	HPS3_ENST00000460120.1_Silent_p.T112T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	277						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGGAGTCTACGGGATTAGCTG	0.373									Hermansky-Pudlak syndrome				4	75					0	0	0	0	A	148858922	G	A	148858922	2	1	452	1	0	0	0	0	0	0	0	1	7390	1103	39	1		1	HPS3	3	148858922	Silent	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	25405982	148858922	49163508	14	88426											
MXD4	10608	broad.mit.edu	37	chr4	2252912	2252912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgccgcttcaggaaaCgatgctcctgctgcagctgc	7	7	12	15	3	1	0	1	0	0	0	2	2	2	1	3	2	6	5	3	2	1	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:2252912C>T	ENST00000337190.2	-	5	684	c.371G>A	c.(370-372)cGt>cAt	p.R124H		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	124					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CTTCAGGAAACGATGCTCCTG	0.647													4	13					0	0	0	0	T	2252912	C	T	2252912	3	4	452	1	0	0	0	0	1	0	0	0	10071	536	19	1	266	1	MXD4	4	2252912	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08		2252912	188901364	15	88427											
NSUN7	79730	broad.mit.edu	37	chr4	40776906	40776906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgtcttaatttttccatCtcatcttaaaaatgatctta	12	19	3	7	0	4	2	1	2	4	0	6	2	5	2	1	0	0	0	1	0	5	5			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:40776906C>T	ENST00000381782.2	+	6	1259	c.764C>T	c.(763-765)tCt>tTt	p.S255F	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.S255F	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATTTTTCCATCTCATCTTAAA	0.269													4	28					0	0	0	0	T	40776906	C	T	40776906	3	4	452	1	0	0	0	0	1	0	0	0	10754	913	32	2	782	2	NSUN7	4	40776906	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	38523994	40776906	150377370	16	88428											
SLC4A4	8671	broad.mit.edu	37	chr4	72400023	72400023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccttgctgctgctatccCggctttgttggtcactatac	4	15	10	12	1	1	0	1	0	0	0	2	0	2	0	2	2	5	5	2	2	3	6			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:72400023C>T	ENST00000340595.3	+	15	2424	c.2228C>T	c.(2227-2229)cCg>cTg	p.P743L	SLC4A4_ENST00000351898.6_Missense_Mutation_p.P787L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P787L|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P787L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	787						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.P787Q(1)|p.P743Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCTGCTATCCCGGCTTTGTTG	0.433													6	32					0	0	0	0	T	72400023	C	T	72400023	3	4	452	1	0	0	0	0	1	0	0	0	14744	652	23	1	2547	1	SLC4A4	4	72400023	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	31623117	72400023	118754253	17	88429											
USO1	8615	broad.mit.edu	37	chr4	76692048	76692048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaactagggcctcaggTgcaacaaattattttagtca	16	10	7	8	0	2	0	2	0	0	0	2	0	2	0	1	2	4	1	1	2	8	4			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:76692048T>C	ENST00000538159.1	+	6	476	c.476T>C	c.(475-477)gTg>gCg	p.V159A	USO1_ENST00000514213.2_Missense_Mutation_p.V142A			O60763	USO1_HUMAN	USO1 vesicle transport factor	157	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGCCTCAGGTGCAACAAATT	0.353													15	134					0	0	0	0	C	76692048	T	C	76692048	3	2	452	1	0	0	0	0	1	0	0	0	17135	1696	59	5	333	5	USO1	4	76692048	Missense_Mutation	SNP	T	TCGA-MT-A67G-01A-11D-A30E-08	4292025	76692048	114462228	18	88430											
PKD2	5311	broad.mit.edu	37	chr4	88986993	88986993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaagaactgaccgaacatGaacatcagcagatgagagac	18	4	9	10	1	1	6	1	3	0	3	1	8	1	6	2	0	4	1	2	0	4	0			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:88986993G>A	ENST00000237596.2	+	12	2386	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.E192K|PKD2_ENST00000508588.1_Missense_Mutation_p.E192K	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	774	EF-hand domain.|EF-hand.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACCGAACATGAACATCAGCA	0.448													12	66					0	0	0	0	A	88986993	G	A	88986993	3	1	452	1	0	0	0	0	1	0	0	0	12038	1291	45	2	2366	2	PKD2	4	88986993	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	12294945	88986993	102167283	19	88431											
EDNRA	1909	broad.mit.edu	37	chr4	148453782	148453782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaagcgattggcttcGtcatggtaccctttgaatat	8	15	9	9	2	1	2	1	2	0	0	3	3	2	2	2	2	2	2	2	2	4	6			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:148453782G>A	ENST00000324300.5	+	4	1188	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000506066.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	225					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GATTGGCTTCGTCATGGTACC	0.423													16	98					0	0	0	0	A	148453782	G	A	148453782	3	1	452	1	0	0	0	0	1	0	0	0	4955	1145	40	1	683	1	EDNRA	4	148453782	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	59466789	148453782	42700494	20	88432											
MTMR12	54545	broad.mit.edu	37	chr5	32263325	32263325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaagtgtgtcaaacattaCggtatggttcttgggatcag	10	14	11	6	1	3	0	2	0	1	0	3	1	3	1	0	3	2	2	0	3	4	5			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:32263325C>T	ENST00000382142.3	-	7	777	c.607G>A	c.(607-609)Gta>Ata	p.V203I	MTMR12_ENST00000264934.5_Missense_Mutation_p.V203I|MTMR12_ENST00000280285.5_Missense_Mutation_p.V203I	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	203						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAAACATTACGGTATGGTTC	0.408													4	97					0	0	0	0	T	32263325	C	T	32263325	3	4	452	1	0	0	0	0	1	0	0	0	10011	536	19	1	1676	1	MTMR12	5	32263325	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08		32263325	148651935	21	88433											
GAPT	202309	broad.mit.edu	37	chr5	57790546	57790546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtctgtactaaaacattCttgggcccccgcatcattgg	11	11	8	11	1	3	0	1	0	2	0	3	0	3	0	2	2	2	2	2	2	4	5			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:57790546C>T	ENST00000396776.2	+	3	645	c.183C>T	c.(181-183)ttC>ttT	p.F61F	GAPT_ENST00000318469.2_Silent_p.F61F	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	61					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CTAAAACATTCTTGGGCCCCC	0.453													5	43					0	0	0	0	T	57790546	C	T	57790546	2	4	452	1	0	0	0	0	0	0	0	1	6287	912	32	2		2	GAPT	5	57790546	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	25527221	57790546	123124714	22	88434											
PCDHB8	56128	broad.mit.edu	37	chr5	140559775	140559775	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtaggaggagcagggcGgcctcggtgggtcgctgctc	4	8	19	10	3	0	0	0	0	0	0	3	2	0	2	1	6	2	4	1	6	1	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:140559775G>T	ENST00000239444.2	+	1	2405	c.2160G>T	c.(2158-2160)gcG>gcT	p.A720A		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		720					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.642													28	145					1.17739e-12	1.234e-12	1	0	T	140559775	G	T	140559775	2	4	452	1	0	0	0	0	0	0	0	1	11619	1103	39	3		3	PCDHB8	5	140559775	Silent	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	82769229	140559775	40355485	23	88435											
DBF4	10926	broad.mit.edu	37	chr7	87516189	87516189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaggaaaattattagttGaaaaagctatcaaggaccat	18	9	9	5	0	1	2	1	1	0	1	1	4	1	4	1	2	1	3	1	2	8	4			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:87516189G>A	ENST00000265728.1	+	4	934	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	144					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATTATTAGTTGAAAAAGCTAT	0.294													11	85					0	0	0	0	A	87516189	G	A	87516189	3	1	452	1	0	0	0	0	1	0	0	0	4281	1291	45	2	444	2	DBF4	7	87516189	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		87516189	71622474	24	88436											
MCM7	4176	broad.mit.edu	37	chr7	99690578	99690578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaagtgatccgtgtccGggaagcattgacctgccaga	12	7	12	10	2	0	3	0	2	0	1	2	5	2	4	4	1	2	1	4	1	3	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:99690578G>A	ENST00000303887.5	-	15	2782	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	MCM7_ENST00000343023.6_Missense_Mutation_p.R383W|MCM7_ENST00000354230.3_Missense_Mutation_p.R537W	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	713	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATCCGTGTCCGGGAAGCATTG	0.587													5	120					0	0	0	0	A	99690578	G	A	99690578	3	1	452	1	0	0	0	0	1	0	0	0	9461	1115	39	1	26	1	MCM7	7	99690578	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	12174389	99690578	59448085	25	88437											
KCND2	3751	broad.mit.edu	37	chr7	119915572	119915572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcacactccgagtcttcCgggtcttcaggatctttaag	7	14	9	11	2	5	0	2	0	3	0	7	2	7	1	2	2	0	0	2	2	1	5			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:119915572C>T	ENST00000331113.4	+	1	1851	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	296					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCGAGTCTTCCGGGTCTTCAG	0.522													5	47					0	0	0	0	T	119915572	C	T	119915572	3	4	452	1	0	0	0	0	1	0	0	0	8072	643	23	1	888	1	KCND2	7	119915572	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	20224994	119915572	39223091	26	88438											
RBM12B	389677	broad.mit.edu	37	chr8	94748598	94748598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgaatatccacaggccccGcaataaaaggaagccccagt	15	4	9	13	2	0	0	0	0	0	0	1	3	1	1	5	2	1	1	5	2	6	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr8:94748598G>A	ENST00000399300.2	-	3	254	c.41C>T	c.(40-42)gCg>gTg	p.A14V	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.A14V	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	14							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CACAGGCCCCGCAATAAAAGG	0.438													4	111					0	0	0	0	A	94748598	G	A	94748598	3	1	452	1	0	0	0	0	1	0	0	0	13196	1087	38	1	2968	1	RBM12B	8	94748598	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		94748598	51615424	27	88439											
TEK	7010	broad.mit.edu	37	chr9	27220087	27220087	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacttgtgcagaactctaCgagaagctgccccagggcta	11	8	11	11	1	1	3	0	1	1	2	1	4	1	3	2	1	5	3	2	1	4	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr9:27220087C>T	ENST00000380036.4	+	21	3586	c.3144C>T	c.(3142-3144)taC>taT	p.Y1048Y	TEK_ENST00000519097.1_Silent_p.Y900Y|TEK_ENST00000406359.4_Silent_p.Y1005Y	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1048	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGAACTCTACGAGAAGCTGC	0.532													5	102					0	0	0	0	T	27220087	C	T	27220087	2	4	452	1	0	0	0	0	0	0	0	1	15845	547	19	1		1	TEK	9	27220087	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08		27220087	113993344	28	88440											
RGS3	5998	broad.mit.edu	37	chr9	116246482	116246482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaccgttccagactgcaGagacccggctttccacgagc	9	6	11	15	3	0	3	0	0	0	3	2	5	2	3	4	1	2	4	4	1	0	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr9:116246482G>A	ENST00000374140.2	+	7	799	c.590G>A	c.(589-591)aGa>aAa	p.R197K	RGS3_ENST00000317613.6_Missense_Mutation_p.R85K|RGS3_ENST00000350696.5_Missense_Mutation_p.R197K	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	197	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGACTGCAGAGACCCGGCT	0.483													5	74					0	0	0	0	A	116246482	G	A	116246482	3	1	452	1	0	0	0	0	1	0	0	0	13389	942	33	2	695	2	RGS3	9	116246482	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	89026395	116246482	24966949	29	88441											
LDB3	11155	broad.mit.edu	37	chr10	88469757	88469757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccgccgcccctgcacccaAgccccgggttgtcaccactg	5	5	9	22	3	1	0	1	0	0	0	1	0	1	0	9	1	2	2	9	1	1	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr10:88469757A>C	ENST00000429277.2	+	9	1341	c.1196A>C	c.(1195-1197)aAg>aCg	p.K399T	LDB3_ENST00000263066.6_Missense_Mutation_p.K284T|LDB3_ENST00000361373.4_Missense_Mutation_p.K394T|LDB3_ENST00000352360.5_Missense_Mutation_p.K137T|LDB3_ENST00000458213.2_Missense_Mutation_p.K284T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	394						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCTGCACCCAAGCCCCGGGTT	0.682													7	32					0	0	0	0	C	88469757	A	C	88469757	3	2	452	1	0	0	0	0	1	0	0	0	8750	72	3	5	1547	5	LDB3	10	88469757	Missense_Mutation	SNP	A	TCGA-MT-A67G-01A-11D-A30E-08		88469757	47064990	30	88442											
HTR7	3363	broad.mit.edu	37	chr10	92509196	92509196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaaagtcctggctgatcAagcacaccttatcatcattt	12	11	6	12	0	3	1	3	1	0	0	4	1	4	1	3	1	2	2	3	1	3	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr10:92509196A>G	ENST00000371721.3	-	2	937	c.695T>C	c.(694-696)tTg>tCg	p.L232S	HTR7_ENST00000336152.3_Missense_Mutation_p.L232S|HTR7_ENST00000277874.6_Missense_Mutation_p.L232S|HTR7_ENST00000371719.2_Missense_Mutation_p.L232S			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	232					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CTGGCTGATCAAGCACACCTT	0.463													11	72					0	0	0	0	G	92509196	A	G	92509196	3	3	452	1	0	0	0	0	1	0	0	0	7505	131	5	5	760	5	HTR7	10	92509196	Missense_Mutation	SNP	A	TCGA-MT-A67G-01A-11D-A30E-08	4039439	92509196	43025551	31	88443											
FBXO3	26273	broad.mit.edu	37	chr11	33772198	33772198	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctacacattctggatcGtgaacatatctaggtaattt	11	15	8	7	1	2	1	0	1	2	0	3	2	2	2	0	2	3	3	0	2	5	7			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:33772198G>A	ENST00000531080.1	-	0	384				FBXO3_ENST00000526785.1_Silent_p.H160H|FBXO3_ENST00000448981.2_Silent_p.H273H|FBXO3_ENST00000265651.3_Silent_p.H273H|FBXO3_ENST00000534136.1_Silent_p.H273H|FBXO3_ENST00000532057.1_De_novo_Start_OutOfFrame|FBXO3_ENST00000530401.1_Silent_p.H268H			Q9UK99	FBX3_HUMAN	F-box protein 3						proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ATTCTGGATCGTGAACATATC	0.333													3	29					0	0	0	0	A	33772198	G	A	33772198	1	1	452	1	0	0	0	0	0	0	0	0	5784	1136	40	1		1	FBXO3	11	33772198	Translation_Start_Site	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		33772198	101234318	32	88444											
SCYL1	57410	broad.mit.edu	37	chr11	65304213	65304213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacattccccaaagacccaCgcctgaaggtgagtgtcctg	11	7	9	14	1	0	3	0	2	0	1	2	3	2	3	5	1	1	0	5	1	3	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:65304213C>T	ENST00000524944.1	+	13	1841	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	SCYL1_ENST00000270176.5_Missense_Mutation_p.T603M|SCYL1_ENST00000533862.1_Missense_Mutation_p.T603M|SCYL1_ENST00000420247.2_Missense_Mutation_p.T603M|SCYL1_ENST00000525364.1_Missense_Mutation_p.T603M|SCYL1_ENST00000527630.1_Missense_Mutation_p.T603M|SCYL1_ENST00000527009.1_Missense_Mutation_p.T460M|SCYL1_ENST00000279270.6_Missense_Mutation_p.T603M			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	603	Pro-rich.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CAAAGACCCACGCCTGAAGGT	0.617													17	86					0	0	0	0	T	65304213	C	T	65304213	3	4	452	1	0	0	0	0	1	0	0	0	14034	536	19	1	1858	1	SCYL1	11	65304213	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	31532015	65304213	69702303	33	88445											
LRP5	4041	broad.mit.edu	37	chr11	68153810	68153810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtgctgctgctggccCggcggacggacctacggagg	6	5	19	11	4	0	0	0	0	0	0	0	4	0	4	2	8	4	3	2	8	1	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:68153810C>T	ENST00000294304.7	+	6	1148	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	348	Beta-propeller 2.		R -> W (in OPPG).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGCTGGCCCGGCGGACGGA	0.662													4	67					0	0	0	0	T	68153810	C	T	68153810	3	4	452	1	0	0	0	0	1	0	0	0	9024	643	23	1	1064	1	LRP5	11	68153810	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	2849597	68153810	66852706	34	88446											
HTR3A	3359	broad.mit.edu	37	chr11	113857526	113857526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctgcatgtgtctcttgCctctgccctgggctgcacag	3	12	10	16	0	2	0	0	0	2	0	4	0	3	0	4	1	4	3	4	1	0	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:113857526C>T	ENST00000355556.2	+	7	1243	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	HTR3A_ENST00000504030.2_Intron|HTR3A_ENST00000299961.5_Intron|HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.A331V	NM_213621.3	NP_998786.2	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	305					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTGTCTCTTGCCTCTGCCCTG	0.587													25	67					0	0	0	0	T	113857526	C	T	113857526	3	4	452	1	0	0	0	0	1	0	0	0	7497	739	26	4	1062	4	HTR3A	11	113857526	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	45703716	113857526	21148990	35	88447											
ZNF202	7753	broad.mit.edu	37	chr11	123601251	123601251	+	Missense_Mutation	SNP	C	C	T																															ctccaccagcgtcactgcctCctcgccactttctggccgtt																										TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:123601251C>T	ENST00000336139.4	-	3	708	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ZNF202_ENST00000530393.1_Missense_Mutation_p.E116K|ZNF202_ENST00000529691.1_Missense_Mutation_p.E116K			O95125	ZN202_HUMAN	zinc finger protein 202	116	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GTCACTGCCTCCTCGCCACTT	0.587													5	117					0	0	0	0	T	123601251	C	T	123601251	3	4	452	1	0	0	0	0	1	0	0	0	17858	864	30	2	1624	2	ZNF202	11	123601251	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	9743725	123601251	11405265	36	88448	1094	2									
ZNF202	7753	broad.mit.edu	37	chr11	123601252	123601252	+	Missense_Mutation	SNP	C	C	A																															tccaccagcgtcactgcctcCtcgccactttctggccgttg																										TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:123601252C>A	ENST00000336139.4	-	3	707	c.345G>T	c.(343-345)gaG>gaT	p.E115D	ZNF202_ENST00000530393.1_Missense_Mutation_p.E115D|ZNF202_ENST00000529691.1_Missense_Mutation_p.E115D			O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCACTGCCTCCTCGCCACTTT	0.587													5	116					0.014758	0.0148946	1	0	A	123601252	C	A	123601252	3	1	452	1	0	0	0	0	1	0	0	0	17858	680	24	4	1625	4	ZNF202	11	123601252	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	1	123601252	11405264	37	88449	1094	2									
GNB3	2784	broad.mit.edu	37	chr12	6954816	6954816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgccgcttgtttgacctgCgggcagaccaggagctgatc	6	9	13	13	2	0	3	0	2	0	1	1	4	0	4	4	2	3	4	4	2	0	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:6954816C>T	ENST00000229264.3	+	10	1171	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.R255W|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	256					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTTTGACCTGCGGGCAGACCA	0.612													4	139					0	0	0	0	T	6954816	C	T	6954816	3	4	452	1	0	0	0	0	1	0	0	0	6570	759	27	1	796	1	GNB3	12	6954816	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08		6954816	126897079	38	88450											
CAPZA3	93661	broad.mit.edu	37	chr12	18891249	18891249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaggaaagagtaattcGcagactgttattacaggccc	14	8	11	8	1	0	2	0	0	0	2	1	4	0	4	1	3	1	3	1	3	5	4			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:18891249G>A	ENST00000317658.3	+	1	205	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	16					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGAGTAATTCGCAGACTGTTA	0.443													8	96					0	0	0	0	A	18891249	G	A	18891249	3	1	452	1	0	0	0	0	1	0	0	0	2667	1087	38	1	49	1	CAPZA3	12	18891249	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	11936433	18891249	114960646	39	88451											
DDX11	1663	broad.mit.edu	37	chr12	31249813	31249813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttgcagcccctgcagacGagagtcaggccagcaccctg	8	6	11	16	1	2	2	1	0	1	2	2	3	2	2	4	1	4	3	4	1	0	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:31249813G>A	ENST00000407793.2	+	17	1902	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	DDX11_ENST00000542838.1_Missense_Mutation_p.E551K|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.E525K|DDX11_ENST00000545668.1_Missense_Mutation_p.E551K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.E551K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	551					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCTGCAGACGAGAGTCAGGC	0.617										Multiple Myeloma(12;0.14)			7	34					0	0	0	0	A	31249813	G	A	31249813	3	1	452	1	0	0	0	0	1	0	0	0	4375	1059	37	1	1713	1	DDX11	12	31249813	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	12358564	31249813	102602082	40	88452											
AQP6	363	broad.mit.edu	37	chr12	50367302	50367302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggggccacggtgggggctGctctgctttatggggtcatg	3	11	19	8	1	2	0	1	0	1	0	2	0	2	0	1	7	2	3	1	7	1	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:50367302G>T	ENST00000315520.5	+	1	683	c.346G>T	c.(346-348)Gct>Tct	p.A116S	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	116					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGTGGGGGCTGCTCTGCTTTA	0.672													5	40					0.000602214	0.000625156	1	0	T	50367302	G	T	50367302	3	4	452	1	0	0	0	0	1	0	0	0	832	1319	46	4	348	4	AQP6	12	50367302	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	19117489	50367302	83484593	41	88453											
MON2	23041	broad.mit.edu	37	chr12	62960205	62960205	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaagcagtggtgaatgAgaaagtgctccagaatatta	16	9	10	6	0	1	3	1	2	0	2	2	4	2	3	1	1	2	2	1	1	6	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:62960205A>G	ENST00000393630.3	+	30	4692	c.4301A>G	c.(4300-4302)gAg>gGg	p.E1434G	MON2_ENST00000552738.1_Missense_Mutation_p.E1404G|MON2_ENST00000393629.2_Missense_Mutation_p.E1427G|MON2_ENST00000280379.6_Missense_Mutation_p.E1434G|MON2_ENST00000546600.1_Missense_Mutation_p.E1433G|MON2_ENST00000393632.2_Missense_Mutation_p.E1433G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1434					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTGGTGAATGAGAAAGTGCTC	0.338													10	78					0	0	0	0	G	62960205	A	G	62960205	3	3	452	1	0	0	0	0	1	0	0	0	9770	304	11	5	4412	5	MON2	12	62960205	Missense_Mutation	SNP	A	TCGA-MT-A67G-01A-11D-A30E-08	12592903	62960205	70891690	42	88454											
TXNRD1	7296	broad.mit.edu	37	chr12	104682730	104682730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacggtcgggccctggaagGaacgctctcggaattggccg	7	6	17	11	5	1	0	0	0	1	0	3	4	1	4	2	7	1	1	2	7	3	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:104682730G>A	ENST00000526691.1	+	2	488	c.32G>A	c.(31-33)gGa>gAa	p.G11E	TXNRD1_ENST00000378070.4_Missense_Mutation_p.G58E|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000429002.2_Missense_Mutation_p.G109E|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000525566.1_Missense_Mutation_p.G109E|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000542918.1_Missense_Mutation_p.G9E|TXNRD1_ENST00000388854.3_Missense_Mutation_p.G11E	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	109					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GCCCTGGAAGGAACGCTCTCG	0.607													46	126					0	0	0	0	A	104682730	G	A	104682730	3	1	452	1	0	0	0	0	1	0	0	0	16903	1174	41	2	354	2	TXNRD1	12	104682730	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	41722525	104682730	29169165	43	88455											
SMAD9	4093	broad.mit.edu	37	chr13	37453794	37453794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcggggctggtgaaggaGaagagggagctgatgggggt	9	6	22	4	1	0	4	0	2	0	2	0	6	0	5	0	7	2	2	0	7	2	0			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr13:37453794G>A	ENST00000379826.4	-	2	375	c.33C>T	c.(31-33)ttC>ttT	p.F11F	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000399275.2_Silent_p.F11F|SMAD9_ENST00000350148.5_Silent_p.F11F	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	11					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TGGTGAAGGAGAAGAGGGAGC	0.602													8	66					0	0	0	0	A	37453794	G	A	37453794	2	1	452	1	0	0	0	0	0	0	0	1	14852	933	33	2		2	SMAD9	13	37453794	Silent	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		37453794	77716084	44	88456											
SLC10A2	6555	broad.mit.edu	37	chr13	103705000	103705000	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctttgctttttggggccaTttgtgattaacaaacattcc	9	17	7	8	0	1	1	0	1	1	0	2	1	2	1	2	2	3	1	2	2	2	6			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr13:103705000T>G	ENST00000245312.3	-	3	1151	c.555A>C	c.(553-555)aaA>aaC	p.K185N		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	185					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTGGGGCCATTTGTGATTAA	0.393													6	55					0	0	0	0	G	103705000	T	G	103705000	3	3	452	1	0	0	0	0	1	0	0	0	14462	1490	52	5	507	5	SLC10A2	13	103705000	Missense_Mutation	SNP	T	TCGA-MT-A67G-01A-11D-A30E-08	66251206	103705000	11464878	45	88457											
MPP5	64398	broad.mit.edu	37	chr14	67787835	67787835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattaccactttgtttcgcgGcaagcattcgaggcagacat	10	11	10	10	3	0	1	0	0	0	1	2	3	0	1	1	2	2	4	1	2	2	4			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:67787835G>A	ENST00000261681.4	+	13	2260	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	MPP5_ENST00000555925.1_Silent_p.R499R|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	533	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	p.R533R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGTTTCGCGGCAAGCATTCG	0.443													4	96					0	0	0	0	A	67787835	G	A	67787835	2	1	452	1	0	0	0	0	0	0	0	1	9807	1190	42	4		4	MPP5	14	67787835	Silent	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		67787835	39561705	46	88458											
SERPINA5	5104	broad.mit.edu	37	chr14	95053760	95053760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggggcctcccttcacCgccaccacccccgggagatg	6	5	11	19	2	2	1	2	0	0	1	3	2	3	1	7	3	0	0	7	3	0	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:95053760C>T	ENST00000329597.7	+	3	271	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	SERPINA5_ENST00000554866.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21C	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCCCTTCACCGCCACCACCC	0.582													11	94					0	0	0	0	T	95053760	C	T	95053760	3	4	452	1	0	0	0	0	1	0	0	0	14179	652	23	1	63	1	SERPINA5	14	95053760	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	27265925	95053760	12295780	47	88459											
DLK1	8788	broad.mit.edu	37	chr14	101200631	101200631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatgcgagaacgacggcGtctgcactgacattgggggc	9	6	14	12	4	1	2	0	1	1	1	1	4	1	2	1	3	3	1	1	3	1	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:101200631G>A	ENST00000341267.4	+	5	792	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	DLK1_ENST00000331224.6_Missense_Mutation_p.V184I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	184	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GAACGACGGCGTCTGCACTGA	0.667													4	117					0	0	0	0	A	101200631	G	A	101200631	3	1	452	1	0	0	0	0	1	0	0	0	4601	1145	40	1	568	1	DLK1	14	101200631	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	6146871	101200631	6148909	48	88460											
SLC28A2	9153	broad.mit.edu	37	chr15	45555359	45555359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctttgtcctggttcactcGtttttgaaaaagctcctggg	7	16	9	9	1	2	1	1	1	1	0	5	1	4	1	2	2	1	3	2	2	2	4			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:45555359G>A	ENST00000347644.3	+	5	428	c.363G>A	c.(361-363)tcG>tcA	p.S121S	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	121					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TGGTTCACTCGTTTTTGAAAA	0.458													8	68					0	0	0	0	A	45555359	G	A	45555359	2	1	452	1	0	0	0	0	0	0	0	1	14620	1132	40	1		1	SLC28A2	15	45555359	Silent	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		45555359	56976033	49	88461											
WDR72	256764	broad.mit.edu	37	chr15	53815463	53815463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcaggcatgtcctccaCgtcttggaagtttgccgagt	6	13	11	11	2	3	0	1	0	2	0	5	2	5	1	3	2	1	2	3	2	1	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:53815463C>T	ENST00000396328.1	-	19	3444	c.3205G>A	c.(3205-3207)Gtg>Atg	p.V1069M	WDR72_ENST00000559418.1_Missense_Mutation_p.V1079M|WDR72_ENST00000557913.1_Missense_Mutation_p.V1066M|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Missense_Mutation_p.V1069M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1069										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATGTCCTCCACGTCTTGGAAG	0.448													24	170					0	0	0	0	T	53815463	C	T	53815463	3	4	452	1	0	0	0	0	1	0	0	0	17418	536	19	1	111	1	WDR72	15	53815463	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	8260104	53815463	48715929	50	88462											
ZNF280D	54816	broad.mit.edu	37	chr15	56961070	56961070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaggttttataaatgttCgatggtgttgagtcttatga	9	19	11	2	1	1	2	0	2	1	0	2	3	1	2	0	2	0	4	0	2	5	8			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:56961070C>T	ENST00000559237.1	-	13	2140	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	ZNF280D_ENST00000396245.1_Missense_Mutation_p.R203Q|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R486Q|ZNF280D_ENST00000267807.7_Missense_Mutation_p.R499Q	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TATAAATGTTCGATGGTGTTG	0.299													11	51					0	0	0	0	T	56961070	C	T	56961070	3	4	452	1	0	0	0	0	1	0	0	0	17912	884	31	1	1479	1	ZNF280D	15	56961070	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	3145607	56961070	45570322	51	88463											
KIAA1024	23251	broad.mit.edu	37	chr15	79750301	79750301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggtgctcaggattggCgaaattgaacggaagctgga	13	8	14	6	2	1	1	1	1	0	0	1	5	1	4	0	5	4	2	0	5	4	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:79750301C>T	ENST00000305428.3	+	2	1887	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	604						integral to membrane		p.G604G(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCAGGATTGGCGAAATTGAAC	0.517													7	112					0	0	0	0	T	79750301	C	T	79750301	2	4	452	1	0	0	0	0	0	0	0	1	8256	755	27	1		1	KIAA1024	15	79750301	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	22789231	79750301	22781091	52	88464											
POLG	5428	broad.mit.edu	37	chr15	89876415	89876415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacaccagggcccgctcctCggggatggccacgggtacgg	7	4	16	14	4	0	0	0	0	0	0	2	2	1	1	4	6	2	2	4	6	2	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:89876415C>T	ENST00000268124.5	-	2	904	c.571G>A	c.(571-573)Gag>Aag	p.E191K	POLG_ENST00000442287.2_Missense_Mutation_p.E191K|POLG_ENST00000525806.1_5'UTR	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	191					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			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)			GCCCGCTCCTCGGGGATGGCC	0.716								DNA polymerases (catalytic subunits)					12	33					0	0	0	0	T	89876415	C	T	89876415	3	4	452	1	0	0	0	0	1	0	0	0	12272	893	31	1	3236	1	POLG	15	89876415	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	10126114	89876415	12654977	53	88465											
TXNDC11	51061	broad.mit.edu	37	chr16	11785384	11785384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggaaagagatacctgttCtcctcaatgtgaggaacgga	12	10	11	8	1	3	2	1	1	2	1	4	6	3	5	2	3	2	1	2	3	4	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:11785384C>T	ENST00000356957.3	-	9	1850	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	TXNDC11_ENST00000283033.5_Silent_p.E554E			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	581					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATACCTGTTCTCCTCAATGT	0.458													18	131					0	0	0	0	T	11785384	C	T	11785384	2	4	452	1	0	0	0	0	0	0	0	1	16888	912	32	2		2	TXNDC11	16	11785384	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08		11785384	78569369	54	88466											
ZNF629	23361	broad.mit.edu	37	chr16	30794517	30794517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggtcttgccgcacaCtgggcacttgaacgggtcct	7	9	14	11	2	1	2	0	2	1	0	2	2	2	2	2	4	2	2	2	4	2	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:30794517C>G	ENST00000262525.4	-	3	1339	c.1132G>C	c.(1132-1134)Gtg>Ctg	p.V378L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TTGCCGCACACTGGGCACTTG	0.657													5	35					0	0	0	0	G	30794517	C	G	30794517	3	3	452	1	0	0	0	0	1	0	0	0	18148	565	20	4	1481	4	ZNF629	16	30794517	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	19009133	30794517	59560236	55	88467											
FBXL19	54620	broad.mit.edu	37	chr16	30939203	30939204	+	Frame_Shift_Ins	INS	-	-	C																															agggccccctgcctgccgggINSccccccccggaggacgtgcc																										TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:30939203_30939204insC	ENST00000338343.4	+	5	933_934	c.546_547insC	c.(544-549)ggccccfs	p.GP182fs	FBXL19_ENST00000380310.2_Frame_Shift_Ins_p.GP202fs|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Frame_Shift_Ins_p.GP182fs|FBXL19_ENST00000565690.1_Intron			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	202							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGCCTGCCGGGCCCCCCCCGGA	0.708													2	4	---	---	---	---					C	30939204	-	C	30939203	7	5	452	1	0	1	1	0	0	0	0	0	5760	1190	42	0	624	0	FBXL19	16	30939203	Frame_Shift_Ins	INS	-	TCGA-MT-A67G-01A-11D-A30E-08	144686	30939203	59415550	56	88468											
TRPV2	51393	broad.mit.edu	37	chr17	16336997	16336997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagatggcagccccgatgAgcgctggtgcttcaggtgag	7	7	16	11	2	1	3	1	2	0	1	1	4	1	3	3	3	3	3	3	3	0	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:16336997A>G	ENST00000338560.7	+	13	2498	c.2099A>G	c.(2098-2100)gAg>gGg	p.E700G	TRPV2_ENST00000577397.1_Missense_Mutation_p.E270G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	700					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGCCCCGATGAGCGCTGGTGC	0.627													39	58					0	0	0	0	G	16336997	A	G	16336997	3	3	452	1	0	0	0	0	1	0	0	0	16691	304	11	5	2145	5	TRPV2	17	16336997	Missense_Mutation	SNP	A	TCGA-MT-A67G-01A-11D-A30E-08		16336997	64858213	57	88469											
LLGL1	3996	broad.mit.edu	37	chr17	18137344	18137344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgccagacgactaccGctgtgggaaggcactgggcc	8	5	15	13	3	0	1	0	0	0	1	0	3	0	2	3	3	3	2	3	3	2	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:18137344G>A	ENST00000316843.4	+	6	665	c.569G>A	c.(568-570)cGc>cAc	p.R190H		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	190					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACGACTACCGCTGTGGGAAG	0.647													7	20					0	0	0	0	A	18137344	G	A	18137344	3	1	452	1	0	0	0	0	1	0	0	0	8888	1087	38	1	591	1	LLGL1	17	18137344	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	1800347	18137344	63057866	58	88470											
ERBB2	2064	broad.mit.edu	37	chr17	37872674	37872674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtgcgtggaggaatgccGagtactgcaggggtatgagg	9	7	20	5	2	0	1	0	1	0	0	0	5	0	4	1	6	4	3	1	6	3	2	rs150203173		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:37872674G>A	ENST00000406381.2	+	15	2054	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ERBB2_ENST00000584601.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000540042.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R545Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R269Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R545Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R530Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.R515Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	545					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GAGGAATGCCGAGTACTGCAG	0.672		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			5	15					0	0	0	0	A	37872674	G	A	37872674	3	1	452	1	0	0	0	0	1	0	0	0	5244	1058	37	1	1684	1	ERBB2	17	37872674	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	19735330	37872674	43322536	59	88471											
IGF2BP1	10642	broad.mit.edu	37	chr17	47123652	47123652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagaatttgacggcagctGaggtggtagtaccaagagac	12	8	14	7	1	0	4	0	2	0	2	0	5	0	4	1	3	3	5	1	3	4	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:47123652G>A	ENST00000290341.3	+	14	1892	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E381K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	520	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACGGCAGCTGAGGTGGTAGT	0.552													13	60					0	0	0	0	A	47123652	G	A	47123652	3	1	452	1	0	0	0	0	1	0	0	0	7626	1291	45	2	1612	2	IGF2BP1	17	47123652	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	9250978	47123652	34071558	60	88472											
ZNF750	79755	broad.mit.edu	37	chr17	80789502	80789502	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctcgggtcttgggttcCgtagactgacagcaggggtg	5	11	17	8	2	2	2	0	1	2	1	4	2	3	2	1	4	1	3	1	4	1	3	rs35283702	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:80789502C>A	ENST00000269394.3	-	2	1662	c.829G>T	c.(829-831)Gga>Tga	p.G277*	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	277						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCTTGGGTTCCGTAGACTGAC	0.597													51	95					1.21353e-23	1.28423e-23	1	0	A	80789502	C	A	80789502	4	1	452	1	0	0	0	0	0	1	0	0	18226	661	23	3	1350	3	ZNF750	17	80789502	Nonsense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	33665850	80789502	405708	61	88473											
METRNL	284207	broad.mit.edu	37	chr17	81052168	81052168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgctgctggagtgtggcGtgcggccggggcatggcgac	4	6	21	10	5	0	0	0	0	0	0	0	3	0	2	1	7	2	3	1	7	0	0			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:81052168G>A	ENST00000571814.1	+	3	1479	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	METRNL_ENST00000320095.7_Missense_Mutation_p.V262M|METRNL_ENST00000570778.1_Missense_Mutation_p.V180M|METRNL_ENST00000571940.1_3'UTR			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	262						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGAGTGTGGCGTGCGGCCGGG	0.662													6	57					0	0	0	0	A	81052168	G	A	81052168	3	1	452	1	0	0	0	0	1	0	0	0	9558	1145	40	1	798	1	METRNL	17	81052168	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	262666	81052168	143042	62	88474											
HCN2	610	broad.mit.edu	37	chr19	603652	603652	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgccccgtggatcgtgttCaacgtggtctcggacacctt	6	11	11	13	4	2	0	1	0	1	0	4	2	2	2	3	3	2	1	3	3	1	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:603652C>G	ENST00000251287.2	+	2	794	c.741C>G	c.(739-741)ttC>ttG	p.F247L		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	247					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		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)		GGATCGTGTTCAACGTGGTCT	0.552													21	43					0	0	0	0	G	603652	C	G	603652	3	3	452	1	0	0	0	0	1	0	0	0	7047	825	29	2	747	2	HCN2	19	603652	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08		603652	58525331	63	88475											
ABCA7	10347	broad.mit.edu	37	chr19	1043229	1043229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcaggagccagaatccGccctgccagacagcagcctg	9	4	14	14	1	0	2	0	0	0	2	1	3	1	3	5	3	4	2	5	3	1	0	rs143033789		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:1043229G>A	ENST00000263094.6	+	8	1000	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	ABCA7_ENST00000435683.2_Missense_Mutation_p.A119T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A257T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	257					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGAATCCGCCCTGCCAGA	0.642													8	141					0	0	0	0	A	1043229	G	A	1043229	3	1	452	1	0	0	0	0	1	0	0	0	37	1087	38	1	795	1	ABCA7	19	1043229	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	439577	1043229	58085754	64	88476											
GTF2F1	2962	broad.mit.edu	37	chr19	6381016	6381016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccccttgagctccctcccGacggcttccgctctctcttg	2	12	8	19	3	2	1	0	1	2	0	6	2	5	1	5	1	2	3	5	1	0	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:6381016G>A	ENST00000394456.5	-	11	1594	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	GTF2F1_ENST00000429701.2_Missense_Mutation_p.S292L	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	377					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCTCCCTCCCGACGGCTTCCG	0.672													3	19					0	0	0	0	A	6381016	G	A	6381016	3	1	452	1	0	0	0	0	1	0	0	0	6908	1059	37	1	435	1	GTF2F1	19	6381016	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	5337787	6381016	52747967	65	88477											
PKN1	5585	broad.mit.edu	37	chr19	14578417	14578417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgctcccgagctgccttCggagacccaggagaccccag	8	5	11	17	2	0	2	0	0	0	2	2	5	1	2	5	2	3	2	5	2	0	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:14578417C>T	ENST00000242783.6	+	13	1937	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	PKN1_ENST00000342216.4_Missense_Mutation_p.S597L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	591					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAGCTGCCTTCGGAGACCCAG	0.652													10	78					0	0	0	0	T	14578417	C	T	14578417	3	4	452	1	0	0	0	0	1	0	0	0	12051	893	31	1	1865	1	PKN1	19	14578417	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	8197401	14578417	44550566	66	88478											
ZNF682	91120	broad.mit.edu	37	chr19	20133875	20133875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgtctttgctccagaCggctaatcagttctggctta	6	14	9	12	1	3	1	1	0	2	1	5	1	5	1	2	2	1	5	2	2	2	4			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:20133875C>T	ENST00000397165.2	-	3	324	c.164G>A	c.(163-165)cGt>cAt	p.R55H	ZNF682_ENST00000593468.1_Missense_Mutation_p.R55H|ZNF682_ENST00000397162.1_Missense_Mutation_p.R23H|ZNF682_ENST00000358523.5_Missense_Mutation_p.R23H|ZNF682_ENST00000597972.1_Missense_Mutation_p.R61H|ZNF682_ENST00000596019.1_Missense_Mutation_p.R55H|ZNF682_ENST00000595736.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTGCTCCAGACGGCTAATCAG	0.443													26	92					0	0	0	0	T	20133875	C	T	20133875	3	4	452	1	0	0	0	0	1	0	0	0	18184	536	19	1	1340	1	ZNF682	19	20133875	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	5555458	20133875	38995108	67	88479											
ETFB	2109	broad.mit.edu	37	chr19	51856530	51856530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcacccatggccagggcGgtacgaatcgtctcctgcca	7	8	11	15	3	2	0	0	0	2	0	4	1	2	0	4	3	3	2	4	3	2	1	rs147509776		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:51856530G>A	ENST00000354232.4	-	2	2971	c.504C>T	c.(502-504)acC>acT	p.T168T	CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_3'UTR|ETFB_ENST00000309244.4_Silent_p.T77T	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	77					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TGGCCAGGGCGGTACGAATCG	0.647													4	97					0	0	0	0	A	51856530	G	A	51856530	2	1	452	1	0	0	0	0	0	0	0	1	5308	1103	39	1		1	ETFB	19	51856530	Silent	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	31722655	51856530	7272453	68	88480											
SEL1L2	80343	broad.mit.edu	37	chr20	13830922	13830922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtgggcatctggactcGtttgagcagccatgtcgtac	7	12	13	9	2	1	1	0	1	1	0	3	2	1	2	1	2	3	5	1	2	2	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:13830922G>A	ENST00000284951.5	-	19	1936	c.1862C>T	c.(1861-1863)aCg>aTg	p.T621M	SEL1L2_ENST00000378072.5_Missense_Mutation_p.T508M|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	621						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATCTGGACTCGTTTGAGCAGC	0.448													10	98					0	0	0	0	A	13830922	G	A	13830922	3	1	452	1	0	0	0	0	1	0	0	0	14098	1145	40	1	212	1	SEL1L2	20	13830922	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		13830922	49194598	69	88481											
THBD	7056	broad.mit.edu	37	chr20	23029299	23029299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggactgcgtcgcggatgcGgtgcaggagcgcccgtctgc	5	6	17	13	6	1	0	0	0	1	0	2	3	1	3	1	4	5	1	1	4	0	0			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:23029299G>A	ENST00000377103.2	-	1	1079	c.843C>T	c.(841-843)acC>acT	p.T281T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	281	EGF-like 1.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	TCGCGGATGCGGTGCAGGAGC	0.706													3	17					0	0	0	0	A	23029299	G	A	23029299	2	1	452	1	0	0	0	0	0	0	0	1	15946	1103	39	1		1	THBD	20	23029299	Silent	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	9198377	23029299	39996221	70	88482											
NINL	22981	broad.mit.edu	37	chr20	25457599	25457599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagctccagctgctcCgacctctggctcccgcgtgg	3	9	10	19	3	2	0	0	0	2	0	6	1	5	0	5	2	3	4	5	2	0	0	rs144928426	by1000genomes	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:25457599C>T	ENST00000278886.6	-	17	2401	c.2328G>A	c.(2326-2328)tcG>tcA	p.S776S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	776					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGCTGCTCCGACCTCTGGC	0.692													6	32					0	0	0	0	T	25457599	C	T	25457599	2	4	452	1	0	0	0	0	0	0	0	1	10490	639	23	1		1	NINL	20	25457599	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	2428300	25457599	37567921	71	88483											
DNMT3B	1789	broad.mit.edu	37	chr20	31386317	31386317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcacaggcacagcggcCgaggccaagcttcaggagcc	9	3	16	13	2	1	0	1	0	0	0	1	2	1	1	3	5	3	3	3	5	1	1	rs140714949		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:31386317C>T	ENST00000328111.2	+	15	1863	c.1542C>T	c.(1540-1542)gcC>gcT	p.A514A	DNMT3B_ENST00000443239.3_Silent_p.A452A|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Silent_p.A494A|DNMT3B_ENST00000201963.3_Silent_p.A506A|DNMT3B_ENST00000456297.2_Silent_p.A418A|DNMT3B_ENST00000348286.2_Silent_p.A494A|DNMT3B_ENST00000353855.2_Silent_p.A494A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	514	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCACAGCGGCCGAGGCCAAGC	0.647													4	54					0	0	0	0	T	31386317	C	T	31386317	2	4	452	1	0	0	0	0	0	0	0	1	4713	639	23	1		1	DNMT3B	20	31386317	Silent	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	5928718	31386317	31639203	72	88484											
MYL9	10398	broad.mit.edu	37	chr20	35177602	35177602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggcaacttcaactacGtggagttcacccgcatcctc	12	8	8	13	2	2	1	2	0	0	1	4	2	3	2	2	2	3	3	2	2	4	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:35177602G>A	ENST00000279022.2	+	4	573	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	MYL9_ENST00000346786.2_Missense_Mutation_p.V103M|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	157	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTTCAACTACGTGGAGTTCAC	0.607													8	81					0	0	0	0	A	35177602	G	A	35177602	3	1	452	1	0	0	0	0	1	0	0	0	10124	1145	40	1	479	1	MYL9	20	35177602	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	3791285	35177602	27847918	73	88485											
SALL4	57167	broad.mit.edu	37	chr20	50407711	50407711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcaaacagctgggggttTgccttcacctggggatgtcg	6	10	15	10	2	1	0	1	0	0	0	3	1	1	1	2	5	3	3	2	5	1	2			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:50407711T>C	ENST00000217086.4	-	2	1422	c.1311A>G	c.(1309-1311)gcA>gcG	p.A437A	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	437					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGGGGGTTTGCCTTCACCT	0.562													5	131					0	0	0	0	C	50407711	T	C	50407711	2	2	452	1	0	0	0	0	0	0	0	1	13898	1799	63	5		5	SALL4	20	50407711	Silent	SNP	T	TCGA-MT-A67G-01A-11D-A30E-08	15230109	50407711	12617809	74	88486											
CHRNA4	1137	broad.mit.edu	37	chr20	61981904	61981904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgagcagcaggaagaCggtgagcgacagcagcacgg	12	3	18	8	3	0	4	0	3	0	1	0	6	0	5	0	4	5	4	0	4	1	0			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:61981904C>T	ENST00000370263.4	-	5	1080	c.859G>A	c.(859-861)Gtc>Atc	p.V287I	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)	287					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			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)	AGCAGGAAGACGGTGAGCGAC	0.592													13	117					0	0	0	0	T	61981904	C	T	61981904	3	4	452	1	0	0	0	0	1	0	0	0	3414	536	19	1	1032	1	CHRNA4	20	61981904	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	11574193	61981904	1043616	75	88487											
ARVCF	421	broad.mit.edu	37	chr22	19960653	19960653	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccacacctggaggccacGagagccaccaacgctggcac	10	3	10	18	2	0	1	0	0	0	1	1	3	1	2	6	3	2	2	6	3	1	0			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr22:19960653G>A	ENST00000263207.3	-	14	2718	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	ARVCF_ENST00000401994.1_Silent_p.L746L|ARVCF_ENST00000406259.1_Silent_p.L803L|ARVCF_ENST00000344269.3_Silent_p.L746L|ARVCF_ENST00000406522.1_Silent_p.L740L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	809					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGGAGGCCACGAGAGCCACCA	0.711													4	13					0	0	0	0	A	19960653	G	A	19960653	2	1	452	1	0	0	0	0	0	0	0	1	1007	1045	37	1		1	ARVCF	22	19960653	Silent	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		19960653	31343913	76	88488											
SCARF2	91179	broad.mit.edu	37	chr22	20791940	20791941	+	In_Frame_Ins	INS	-	-	AGC																															cggtgtccggcagcatccagINSagcagcagcagcagcagcag																										TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr22:20791940_20791941insAGC	ENST00000405555.3	-	1	171_172	c.101_102insGCT	c.(100-102)ctg>cGCTtg	p.33_34insR	SCARF2_ENST00000266214.5_In_Frame_Ins_p.33_34insR	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	33					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGCATCCAGagcagcagcag	0.782													6	4	---	---	---	---					AGC	20791941	-	AGC	20791940	7	5	452	1	0	1	1	0	0	0	0	0	13970	929	33	0	2554	0	SCARF2	22	20791940	In_Frame_Ins	INS	-	TCGA-MT-A67G-01A-11D-A30E-08	831287	20791940	30512626	77	88489											
SRPX	8406	broad.mit.edu	37	chrX	38013775	38013775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctgccaatgagagtcGggaacacacccaccagctcc	11	6	8	16	1	0	1	0	1	0	1	3	3	2	2	5	1	3	1	5	1	3	1			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:38013775G>A	ENST00000378533.3	-	9	1257	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	SRPX_ENST00000479015.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.P371L|SRPX_ENST00000432886.2_Missense_Mutation_p.P325L|SRPX_ENST00000544439.1_Missense_Mutation_p.P364L|SRPX_ENST00000538295.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	384					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						AATGAGAGTCGGGAACACACC	0.517													3	11					0	0	0	0	A	38013775	G	A	38013775	3	1	452	1	0	0	0	0	1	0	0	0	15254	1116	39	1	251	1	SRPX	23	38013775	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08		38013775	117256785	78	88490											
KDM6A	7403	broad.mit.edu	37	chrX	44913196	44913196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcctggtatttcctcGgaaggtgagacttaccagac	9	10	11	11	1	0	2	0	1	0	2	3	4	2	3	4	3	1	1	4	3	3	3			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:44913196G>A	ENST00000377967.4	+	10	912	c.871G>A	c.(871-873)Gga>Aga	p.G291R	KDM6A_ENST00000543216.1_Missense_Mutation_p.G291R|KDM6A_ENST00000536777.1_Missense_Mutation_p.G291R|KDM6A_ENST00000382899.4_Missense_Mutation_p.G291R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	291					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTATTTCCTCGGAAGGTGAGA	0.383			"D, N, F, S"		"renal, oesophageal SCC, MM"								18	117					0	0	0	0	A	44913196	G	A	44913196	3	1	452	1	0	0	0	0	1	0	0	0	8189	1117	39	1	909	1	KDM6A	23	44913196	Missense_Mutation	SNP	G	TCGA-MT-A67G-01A-11D-A30E-08	6899421	44913196	110357364	79	88491											
CAPN6	827	broad.mit.edu	37	chrX	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-																															gattccagctcctttcggccAaaaatagggttgttcacatt																										TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)ttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488													7	629	---	---	---	---					-	110494259	A	-	110494259	7	5	452	1	0	1	0	1	0	0	0	0	2655	127	5	0	905	0	CAPN6	23	110494259	Frame_Shift_Del	DEL	A	TCGA-MT-A67G-01A-11D-A30E-08	65581063	110494259	44776301	80	88492											
MTMR1	8776	broad.mit.edu	37	chrX	149898676	149898676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcatttcctctttctaaCggacaggtaaatacaccaga	13	11	6	11	1	2	1	0	0	2	1	3	2	3	2	2	2	3	2	2	2	4	5			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:149898676C>G	ENST00000445323.2	+	7	772	c.651C>G	c.(649-651)aaC>aaG	p.N217K	MTMR1_ENST00000544228.1_Missense_Mutation_p.N209K|MTMR1_ENST00000542156.1_Missense_Mutation_p.N209K|MTMR1_ENST00000538506.1_Missense_Mutation_p.N96K|MTMR1_ENST00000370390.3_Missense_Mutation_p.N209K|MTMR1_ENST00000541925.1_Missense_Mutation_p.N115K|MTMR1_ENST00000451863.2_Missense_Mutation_p.N209K			Q13613	MTMR1_HUMAN	myotubularin related protein 1	209						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTTCTAACGGACAGGTAA	0.363													13	31					0	0	0	0	G	149898676	C	G	149898676	3	3	452	1	0	0	0	0	1	0	0	0	10008	535	19	3	649	3	MTMR1	23	149898676	Missense_Mutation	SNP	C	TCGA-MT-A67G-01A-11D-A30E-08	39404417	149898676	5371884	81	88493											
NBPF1	55672	broad.mit.edu	37	chr1	16890645	16890645	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagtgagtcctgcaagacTtcaggctcttccacttccat	8	12	7	14	0	2	2	1	1	1	1	6	2	6	2	4	1	1	2	4	1	1	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:16890645T>A	ENST00000430580.2	-	29	4100	c.3213A>T	c.(3211-3213)gaA>gaT	p.E1071D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1051	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTGCAAGACTTCAGGCTCTT	0.468													27	1998					0	0	0	0	A	16890645	T	A	16890645	3	1	453	1	0	0	0	0	1	0	0	0	10262	1606	56	5	210	5	NBPF1	1	16890645	Missense_Mutation	SNP	T	TCGA-MT-A7BN-01A-12D-A34J-08		16890645	232359976	1	88494											
MAGI3	260425	broad.mit.edu	37	chr1	114189210	114189210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcaggtcaggatccccaAaattggatccttctgaggtc	10	12	9	10	0	3	1	2	1	1	0	6	3	5	3	3	4	0	0	3	4	3	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:114189210A>G	ENST00000369615.1	+	12	2163	c.2101A>G	c.(2101-2103)Aaa>Gaa	p.K701E	MAGI3_ENST00000369611.4_Missense_Mutation_p.K701E|MAGI3_ENST00000307546.9_Missense_Mutation_p.K701E|MAGI3_ENST00000369617.4_Missense_Mutation_p.K726E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	726					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		AGGATCCCCAAAATTGGATCC	0.383													23	116					0	0	0	0	G	114189210	A	G	114189210	3	3	453	1	0	0	0	0	1	0	0	0	9261	15	1	5	2147	5	MAGI3	1	114189210	Missense_Mutation	SNP	A	TCGA-MT-A7BN-01A-12D-A34J-08	97298565	114189210	135061411	2	88495											
NGF	4803	broad.mit.edu	37	chr1	115829175	115829175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacggggtgaacggagtCgccgctttttaaacagcctg	9	8	13	11	4	0	1	0	1	0	0	1	2	0	2	2	3	3	2	2	3	3	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:115829175C>A	ENST00000369512.2	-	3	410	c.242G>T	c.(241-243)cGa>cTa	p.R81L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	81					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGAACGGAGTCGCCGCTTTTT	0.642													7	37					0.0381472	0.0386182	1	0	A	115829175	C	A	115829175	3	1	453	1	0	0	0	0	1	0	0	0	10465	884	31	3	487	3	NGF	1	115829175	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	1639965	115829175	133421446	3	88496											
PDE4DIP	9659	broad.mit.edu	37	chr1	144916738	144916739	+	Frame_Shift_Ins	INS	-	-	CT																															ggcctttggccctcaggagaINSctctccatactctacagcca																										TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:144916738_144916739insCT	ENST00000529945.1	-	9	2544_2545	c.2105_2106insAG	c.(2104-2106)actfs	p.T702fs	PDE4DIP_ENST00000479408.2_Frame_Shift_Ins_p.T326fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Ins_p.T676fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Ins_p.T676fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Ins_p.T702fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Ins_p.T605fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	539					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCTCAGGAGACTCTCCATACT	0.411			T	PDGFRB	MPD								81	490	---	---	---	---					CT	144916739	-	CT	144916738	7	5	453	1	0	1	1	0	0	0	0	0	11714	272	10	0	5561	0	PDE4DIP	1	144916738	Frame_Shift_Ins	INS	-	TCGA-MT-A7BN-01A-12D-A34J-08	29087563	144916738	104333883	4	88497											
INSRR	3645	broad.mit.edu	37	chr1	156814525	156814525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagcggcggtacttgatttCgtacttgaggatgagtccgt	8	12	13	8	4	0	3	0	3	0	0	2	4	1	4	1	3	3	2	1	3	3	5			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:156814525C>T	ENST00000368195.3	-	13	2944	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	850	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TACTTGATTTCGTACTTGAGG	0.607													6	105					0	0	0	0	T	156814525	C	T	156814525	3	4	453	1	0	0	0	0	1	0	0	0	7827	893	31	1	1384	1	INSRR	1	156814525	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	11897787	156814525	92436096	5	88498											
ZP4	57829	broad.mit.edu	37	chr1	238048505	238048505	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccactgtagggttcacaAagctgaaggtgaagatgctg	11	10	12	8	0	2	3	1	2	1	1	3	3	2	3	1	2	2	4	1	2	4	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:238048505A>T	ENST00000366570.4	-	9	1429	c.1271T>A	c.(1270-1272)tTt>tAt	p.F424Y	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	424	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTTCACAAAGCTGAAGGT	0.527													6	55					0	0	0	0	T	238048505	A	T	238048505	3	4	453	1	0	0	0	0	1	0	0	0	18311	14	1	5	367	5	ZP4	1	238048505	Missense_Mutation	SNP	A	TCGA-MT-A7BN-01A-12D-A34J-08	81233980	238048505	11202116	6	88499											
OR2M7	391196	broad.mit.edu	37	chr1	248487598	248487598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagccagccatagaaatGgacttgctgccagacaagta	14	6	10	11	0	0	2	0	0	0	2	0	3	0	3	3	1	4	3	3	1	4	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:248487598G>T	ENST00000317965.2	-	1	301	c.273C>A	c.(271-273)tcC>tcA	p.S91S		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATAGAAATGGACTTGCTGC	0.478													54	394					9.16383e-17	1.01545e-16	1	0	T	248487598	G	T	248487598	2	4	453	1	0	0	0	0	0	0	0	1	11085	1335	47	4		4	OR2M7	1	248487598	Silent	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	10439093	248487598	763023	7	88500											
HADHB	3032	broad.mit.edu	37	chr2	26486314	26486314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatgttgtggtggtggatgGtgttcgcactccatttttgc	5	16	14	6	1	0	0	0	0	0	0	2	2	1	1	1	4	1	3	1	4	1	4			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:26486314G>T	ENST00000317799.5	+	4	280	c.176G>T	c.(175-177)gGt>gTt	p.G59V	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.G59V|HADHB_ENST00000405867.3_Missense_Mutation_p.G59V|HADHB_ENST00000545822.1_Missense_Mutation_p.G37V	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	59			G -> D (in TFP deficiency).		fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGTGGATGGTGTTCGCACT	0.348													35	108					6.90743e-12	7.45275e-12	1	0	T	26486314	G	T	26486314	3	4	453	1	0	0	0	0	1	0	0	0	6994	1261	44	4	186	4	HADHB	2	26486314	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08		26486314	216713059	8	88501											
RAB6C	84084	broad.mit.edu	37	chr2	130738117	130738117	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagttgaggagggagagagGaaagccaaagggctgaatgt	14	6	17	4	0	1	3	1	2	0	1	1	7	1	6	1	4	1	2	1	4	3	1			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:130738117G>C	ENST00000410061.2	+	1	883	c.429G>C	c.(427-429)agG>agC	p.R143S		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	143					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGGGAGAGAGGAAAGCCAAAG	0.448													40	201					0	0	0	0	C	130738117	G	C	130738117	3	2	453	1	0	0	0	0	1	0	0	0	13035	1165	41	2	431	2	RAB6C	2	130738117	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	104251803	130738117	112461256	9	88502											
SCN9A	6335	broad.mit.edu	37	chr2	167168039	167168039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtaggggtccaagtcCtccaggggctctgacaccat	9	8	12	12	0	1	1	0	1	1	0	4	1	4	1	4	4	0	3	4	4	3	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:167168039C>T	ENST00000303354.6	-	2	568	c.228G>A	c.(226-228)gaG>gaA	p.E76E	SCN9A_ENST00000409435.1_Silent_p.E76E|SCN9A_ENST00000409672.1_Silent_p.E76E|SCN9A_ENST00000375387.4_Silent_p.E76E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	76						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGTCCAAGTCCTCCAGGGGCT	0.458													7	59					0	0	0	0	T	167168039	C	T	167168039	2	4	453	1	0	0	0	0	0	0	0	1	14012	680	24	4		4	SCN9A	2	167168039	Silent	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	36429922	167168039	76031334	10	88503											
TTN	7273	broad.mit.edu	37	chr2	179434084	179434084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactctcacagtaacaaagGcagactttgttccactgctg	12	10	8	11	0	1	1	1	0	1	1	3	2	2	1	1	1	3	4	1	1	3	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:179434084G>T	ENST00000589042.1	-	326	76999	c.76775C>A	c.(76774-76776)gCc>gAc	p.A25592D	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16652D|TTN_ENST00000460472.2_Missense_Mutation_p.A16527D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A23024D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A16719D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A23951D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23951	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTAACAAAGGCAGACTTTGT	0.418													34	147					1.22384e-17	1.37472e-17	1	0	T	179434084	G	T	179434084	3	4	453	1	0	0	0	0	1	0	0	0	16831	1203	42	4	31352	4	TTN	2	179434084	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	12266045	179434084	63765289	11	88504											
NCKAP1	10787	broad.mit.edu	37	chr2	183817613	183817613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggaaaatatgctataTggccattgctgacttgtcgt	10	14	10	7	1	0	1	0	1	0	0	1	2	0	2	1	2	3	3	1	2	5	6			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:183817613T>A	ENST00000360982.2	-	23	3187	c.2429A>T	c.(2428-2430)cAt>cTt	p.H810L	NCKAP1_ENST00000361354.3_Missense_Mutation_p.H804L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	804					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATATGCTATATGGCCATTGCT	0.343													27	26					0	0	0	0	A	183817613	T	A	183817613	3	1	453	1	0	0	0	0	1	0	0	0	10291	1464	51	5	1015	5	NCKAP1	2	183817613	Missense_Mutation	SNP	T	TCGA-MT-A7BN-01A-12D-A34J-08	4383529	183817613	59381760	12	88505											
COL6A3	1293	broad.mit.edu	37	chr2	238243452	238243452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcataaaaataaggacCggggggctcagccctctccc	11	6	12	12	1	3	0	2	0	1	0	4	2	3	1	3	5	1	1	3	5	4	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:238243452C>T	ENST00000295550.4	-	41	9498	c.9046G>A	c.(9046-9048)Ggt>Agt	p.G3016S	COL6A3_ENST00000472056.1_Missense_Mutation_p.G2409S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2810S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2810S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2815S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2816S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3016	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATAAGGACCGGGGGGCTCA	0.542													25	97					0	0	0	0	T	238243452	C	T	238243452	3	4	453	1	0	0	0	0	1	0	0	0	3731	652	23	1	503	1	COL6A3	2	238243452	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	54425839	238243452	4955921	13	88506											
MSX1	4487	broad.mit.edu	37	chr4	4864431	4864431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcggccctcagggcGgctgagccccccagcctgca	4	9	11	17	2	2	1	1	1	1	0	3	1	2	1	5	3	3	2	5	3	0	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:4864431G>A	ENST00000382723.4	+	2	707	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	152					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCTCAGGGCGGCTGAGCCCC	0.557													26	79					0	0	0	0	A	4864431	G	A	4864431	3	1	453	1	0	0	0	0	1	0	0	0	9965	1116	39	1	479	1	MSX1	4	4864431	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08		4864431	186289845	14	88507											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69100236	69100236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccatgttgtttttcaaCatctgatgtaatttagcctt	9	18	7	7	0	2	1	1	1	1	0	2	2	2	1	2	0	3	3	2	0	3	7			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:69100236C>T	ENST00000332644.5	-	5	575	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	138	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGTTTTTCAACATCTGATGTA	0.363													17	39					0	0	0	0	T	69100236	C	T	69100236	3	4	453	1	0	0	0	0	1	0	0	0	16334	478	17	4	860	4	TMPRSS11B	4	69100236	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	64235805	69100236	122054040	15	88508											
HERC6	55008	broad.mit.edu	37	chr4	89311908	89311908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggtccctggaggggAtcccactggctcaggtggct	5	8	18	10	0	1	1	1	1	0	0	3	3	3	3	2	8	0	2	2	8	0	0			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:89311908A>G	ENST00000380265.5	+	4	724	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	HERC6_ENST00000273960.3_Missense_Mutation_p.I181V|HERC6_ENST00000264346.7_Missense_Mutation_p.I181V	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	181					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCTGGAGGGGATCCCACTGGC	0.637													6	26					0	0	0	0	G	89311908	A	G	89311908	3	3	453	1	0	0	0	0	1	0	0	0	7112	333	12	5	352	5	HERC6	4	89311908	Missense_Mutation	SNP	A	TCGA-MT-A7BN-01A-12D-A34J-08	20211672	89311908	101842368	16	88509											
ZNF76	7629	broad.mit.edu	37	chr6	35262323	35262323	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcactgttggccacagccAacggaacgcacattgcagtg	10	7	12	12	2	0	0	0	0	0	0	0	1	0	1	2	3	4	4	2	3	2	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr6:35262323A>C	ENST00000373953.3	+	13	1851	c.1585A>C	c.(1585-1587)Aac>Cac	p.N529H	ZNF76_ENST00000440666.2_Missense_Mutation_p.N503H|ZNF76_ENST00000339411.5_Missense_Mutation_p.N474H	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	529					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGCCACAGCCAACGGAACGCA	0.517											OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25					0	0	0	0	C	35262323	A	C	35262323	3	2	453	1	0	0	0	0	1	0	0	0	18229	130	5	5	1631	5	ZNF76	6	35262323	Missense_Mutation	SNP	A	TCGA-MT-A7BN-01A-12D-A34J-08		35262323	135852744	17	88510											
STAG3	10734	broad.mit.edu	37	chr7	99802373	99802373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccagcagctgcagaacCgtgacctcgtggtcatgcta	9	7	11	14	2	1	2	1	1	0	1	2	3	1	2	4	1	5	4	4	1	2	1			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:99802373C>T	ENST00000426455.1	+	27	3333	c.2926C>T	c.(2926-2928)Cgt>Tgt	p.R976C	STAG3_ENST00000394018.2_Missense_Mutation_p.R918C|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.R976C|GATS_ENST00000543273.1_RNA			Q9UJ98	STAG3_HUMAN	stromal antigen 3	976					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGCAGAACCGTGACCTCGT	0.597													8	26					0	0	0	0	T	99802373	C	T	99802373	3	4	453	1	0	0	0	0	1	0	0	0	15334	652	23	1	3028	1	STAG3	7	99802373	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08		99802373	59336290	18	88511											
RBM28	55131	broad.mit.edu	37	chr7	127957756	127957756	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcattttaagttttcttcGatcttctaaagagaactcca	11	17	4	9	1	4	1	1	0	3	1	6	3	5	1	1	0	1	1	1	0	4	8			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:127957756G>A	ENST00000223073.1	-	16	1858	c.1744C>T	c.(1744-1746)Cga>Tga	p.R582*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.R441*|RBM28_ENST00000481788.1_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	582	RRM 4.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGTTTTCTTCGATCTTCTAAA	0.368													17	103					0	0	0	0	A	127957756	G	A	127957756	4	1	453	1	0	0	0	0	0	1	0	0	13210	1066	37	1	551	1	RBM28	7	127957756	Nonsense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	28155383	127957756	31180907	19	88512											
MGAM	8972	broad.mit.edu	37	chr7	141708491	141708491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattaattgcatccctgacCagccgccaacaaaggtttga	13	9	8	11	1	0	2	0	2	0	0	1	3	1	2	4	1	3	2	4	1	4	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:141708491C>A	ENST00000475668.2	+	3	367	c.313C>A	c.(313-315)Cag>Aag	p.Q105K	MGAM_ENST00000549489.2_Missense_Mutation_p.Q105K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	105	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATCCCTGACCAGCCGCCAAC	0.378													19	41					2.94398e-08	3.09496e-08	1	0	A	141708491	C	A	141708491	3	1	453	1	0	0	0	0	1	0	0	0	9610	595	21	4	319	4	MGAM	7	141708491	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	13750735	141708491	17430172	20	88513											
MATN2	4147	broad.mit.edu	37	chr8	98900459	98900459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcggacccacccgcagaCggcccttctgggtgagtggt	5	7	14	15	4	1	2	0	1	1	1	2	3	1	3	3	4	0	2	3	4	0	1			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:98900459C>T	ENST00000254898.5	+	2	362	c.131C>T	c.(130-132)aCg>aTg	p.T44M	MATN2_ENST00000521689.1_Missense_Mutation_p.T44M|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.T44M|MATN2_ENST00000520016.1_Missense_Mutation_p.T44M	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	44						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CACCCGCAGACGGCCCTTCTG	0.647													6	21					0	0	0	0	T	98900459	C	T	98900459	3	4	453	1	0	0	0	0	1	0	0	0	9403	536	19	1	133	1	MATN2	8	98900459	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08		98900459	47463563	21	88514											
RGS22	26166	broad.mit.edu	37	chr8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T																															tcgtcttctaggactgccaaINStttttttttctgcttattat																								rs7841915	by1000genomes	TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aatggcfs	p.NG1162fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1162					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312													7	117	---	---	---	---					T	100990178	-	T	100990177	7	5	453	1	0	1	1	0	0	0	0	0	13388	98	4	0	327	0	RGS22	8	100990177	Frame_Shift_Ins	INS	-	TCGA-MT-A7BN-01A-12D-A34J-08	2089718	100990177	45373845	22	88515											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412313	110412313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattacacttaggagggagaGgcctgaagcttgaggtgtgg	10	9	16	6	0	0	3	0	2	0	1	0	5	0	4	1	5	2	1	1	5	3	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:110412313G>A	ENST00000378402.5	+	13	1125	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	341	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAGGGAGAGGCCTGAAGCT	0.403										HNSCC(38;0.096)			76	98					0	0	0	0	A	110412313	G	A	110412313	3	1	453	1	0	0	0	0	1	0	0	0	12044	1000	35	4	1071	4	PKHD1L1	8	110412313	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	9422136	110412313	35951709	23	88516											
TATDN1	83940	broad.mit.edu	37	chr8	125506161	125506161	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagttcttatatattttGatccagcatgtgtacttttg	9	19	7	6	0	1	1	0	1	1	0	2	1	2	1	1	0	3	4	1	0	4	9			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:125506161G>C	ENST00000276692.6	-	11	741	c.704C>G	c.(703-705)tCa>tGa	p.S235*	TATDN1_ENST00000519548.1_Nonsense_Mutation_p.S188*|TATDN1_ENST00000517678.1_Nonsense_Mutation_p.S181*	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	235						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATATATTTTGATCCAGCATG	0.363													54	118					0	0	0	0	C	125506161	G	C	125506161	4	2	453	1	0	0	0	0	0	1	0	0	15682	1294	45	2	197	2	TATDN1	8	125506161	Nonsense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	15093848	125506161	20857861	24	88517											
PRUNE2	158471	broad.mit.edu	37	chr9	79319818	79319818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtcttcacgaatatgcaGcacagccagctgggatccag	11	7	12	11	1	2	0	1	0	1	0	3	2	3	1	2	2	4	3	2	2	2	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr9:79319818G>A	ENST00000428286.1	-	8	7495	c.6295C>T	c.(6295-6297)Ctg>Ttg	p.L2099L	PRUNE2_ENST00000376718.3_Silent_p.L2458L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2458					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGAATATGCAGCACAGCCAGC	0.493											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	0	0	A	79319818	G	A	79319818	2	1	453	1	0	0	0	0	0	0	0	1	12720	962	34	4		4	PRUNE2	9	79319818	Silent	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08		79319818	61893613	25	88518											
SHC3	53358	broad.mit.edu	37	chr9	91657091	91657091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctggcgtgctgtagatgtCcgaggaccctgcaacaagaa	10	9	12	10	2	1	2	0	0	1	2	2	4	2	3	2	2	3	3	2	2	4	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr9:91657091C>T	ENST00000375835.4	-	10	1516	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	404	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CTGTAGATGTCCGAGGACCCT	0.557													20	98					0	0	0	0	T	91657091	C	T	91657091	3	4	453	1	0	0	0	0	1	0	0	0	14360	855	30	2	586	2	SHC3	9	91657091	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	12337273	91657091	49556340	26	88519											
PTEN	5728	broad.mit.edu	37	chr10	89720726	89720729	+	Frame_Shift_Del	DEL	GGAA	GGAA	-																															cctcagaaaaagtagaaaatGgaagtctatgtgatcaagaa																										TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr10:89720726_89720729delGGAA	ENST00000371953.3	+	8	2234_2237	c.877_880delGGAA	c.(877-882)gtfs	p.GS293fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	293	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G293fs*14(2)|p.G165_*404del(1)|p.G293G(1)|p.W274_F341del(1)|p.G293fs*4(1)|p.G293*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTAGAAAATGGAAGTCTATGTGA	0.314		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			35	52	---	---	---	---					-	89720729	GGAA	-	89720726	7	5	453	1	0	1	0	1	0	0	0	0	12817	1349	47	0	907	0	PTEN	10	89720726	Frame_Shift_Del	DEL	GGAA	TCGA-MT-A7BN-01A-12D-A34J-08		89720726	45814021	27	88520											
NAV2	89797	broad.mit.edu	37	chr11	20125215	20125215	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccttacataattggcAcaatgaaccaggctacctct	12	9	7	13	0	1	1	0	1	1	0	1	1	1	1	3	2	4	3	3	2	5	4			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:20125215A>C	ENST00000396085.1	+	35	6959	c.6598A>C	c.(6598-6600)Aca>Cca	p.T2200P	NAV2_ENST00000349880.4_Missense_Mutation_p.T2197P|NAV2_ENST00000533917.1_Missense_Mutation_p.T1261P|NAV2_ENST00000396087.3_Missense_Mutation_p.T2256P|NAV2_ENST00000527559.2_Missense_Mutation_p.T2185P|NAV2_ENST00000540292.1_Missense_Mutation_p.T2187P|NAV2_ENST00000311043.8_Missense_Mutation_p.T1261P|NAV2_ENST00000360655.4_Missense_Mutation_p.T2133P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2256						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATAATTGGCACAATGAACCA	0.468													22	54					0	0	0	0	C	20125215	A	C	20125215	3	2	453	1	0	0	0	0	1	0	0	0	10254	159	6	5	6841	5	NAV2	11	20125215	Missense_Mutation	SNP	A	TCGA-MT-A7BN-01A-12D-A34J-08		20125215	114881301	28	88521											
NUDT22	84304	broad.mit.edu	37	chr11	63997567	63997567	+	RNA	DEL	A	A	-																															ggcaggacaagtgacttgggAaaaaaaaaaaaaaaaacccg																								rs11364788		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:63997567delA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAA	0.498													4	9	---	---	---	---					-	63997567	A	-	63997567	6	5	453	0	1	1	0	1	0	0	0	0	10810	261	9	0		0	NUDT22	11	63997567	RNA	DEL	A	TCGA-MT-A7BN-01A-12D-A34J-08	43872352	63997567	71008949	29	88522											
CWF19L2	143884	broad.mit.edu	37	chr11	107312239	107312239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctcttacctgttcaagcGcttggtttttctcttgctct	4	20	6	11	1	4	0	1	0	3	0	6	0	4	0	1	1	3	4	1	1	2	7			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:107312239G>T	ENST00000282251.5	-	5	587	c.560C>A	c.(559-561)gCg>gAg	p.A187E	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A187E	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	187							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTGTTCAAGCGCTTGGTTTTT	0.299													6	4					0.00198382	0.00203341	1	0	T	107312239	G	T	107312239	3	4	453	1	0	0	0	0	1	0	0	0	4104	1087	38	3	2180	3	CWF19L2	11	107312239	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	43314672	107312239	27694277	30	88523											
FDX1	2230	broad.mit.edu	37	chr11	110333129	110333129	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctatggacaatatgacTgttcgagtgcctgaaacagt	14	11	9	7	1	1	2	0	2	1	0	2	4	1	3	1	1	2	1	1	1	5	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:110333129T>C	ENST00000260270.2	+	4	730	c.492T>C	c.(490-492)acT>acC	p.T164T		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	164	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	ACAATATGACTGTTCGAGTGC	0.403													12	20					0	0	0	0	C	110333129	T	C	110333129	2	2	453	1	0	0	0	0	0	0	0	1	5849	1567	55	5		5	FDX1	11	110333129	Silent	SNP	T	TCGA-MT-A7BN-01A-12D-A34J-08	3020890	110333129	24673387	31	88524											
GDF3	9573	broad.mit.edu	37	chr12	7848318	7848318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaaatctggcaagaaacGaagcatggcctctggagtgg	13	6	13	9	1	2	1	0	0	2	1	2	3	2	2	2	4	3	2	2	4	4	0			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:7848318G>A	ENST00000329913.3	-	1	54	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	3					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCAAGAAACGAAGCATGGCC	0.468													9	26					0	0	0	0	A	7848318	G	A	7848318	3	1	453	1	0	0	0	0	1	0	0	0	6366	1058	37	1	1095	1	GDF3	12	7848318	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08		7848318	126003577	32	88525											
TAS2R9	50835	broad.mit.edu	37	chr12	10961888	10961888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaccaatcatcaacaCtaattttccctgaggaatca	14	12	4	11	0	4	1	4	1	0	0	5	2	5	2	2	1	1	0	2	1	5	4			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:10961888C>A	ENST00000240691.2	-	1	879	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	263					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATCATCAACACTAATTTTCCC	0.413													24	96					7.87624e-14	8.61136e-14	1	0	A	10961888	C	A	10961888	3	1	453	1	0	0	0	0	1	0	0	0	15679	565	20	4	155	4	TAS2R9	12	10961888	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	3113570	10961888	122890007	33	88526											
MGP	4256	broad.mit.edu	37	chr12	15038675	15038675	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttctcaccataacacaaAgttactaccgctaaggcggc	13	9	7	12	2	1	0	1	0	1	0	2	0	1	0	2	2	3	3	2	2	5	5			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:15038675A>C	ENST00000539261.1	-	1	185	c.51T>G	c.(49-51)acT>acG	p.T17T	MGP_ENST00000228938.5_Silent_p.T17T|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	17					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATAACACAAAGTTACTACCG	0.473													20	16					0	0	0	0	C	15038675	A	C	15038675	2	2	453	1	0	0	0	0	0	0	0	1	9627	59	3	5		5	MGP	12	15038675	Silent	SNP	A	TCGA-MT-A7BN-01A-12D-A34J-08	4076787	15038675	118813220	34	88527											
PDZRN4	29951	broad.mit.edu	37	chr12	41900421	41900421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatgccagcactcagaCggacatcaccttcgaacaca	14	7	7	13	2	2	2	2	1	0	1	3	4	2	3	2	1	3	1	2	1	3	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:41900421C>T	ENST00000298919.7	+	4	615	c.227C>T	c.(226-228)aCg>aTg	p.T76M	PDZRN4_ENST00000539469.2_Missense_Mutation_p.T78M|PDZRN4_ENST00000402685.2_Missense_Mutation_p.T336M			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	336							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGCACTCAGACGGACATCACC	0.522													24	25					0	0	0	0	T	41900421	C	T	41900421	3	4	453	1	0	0	0	0	1	0	0	0	11781	536	19	1	1094	1	PDZRN4	12	41900421	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	26861746	41900421	91951474	35	88528											
ITGB7	3695	broad.mit.edu	37	chr12	53589909	53589909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgccgcccaacttcccGtccccagctgtatggaatgt	10	9	8	14	2	0	0	0	0	0	0	2	1	2	1	5	1	3	2	5	1	5	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:53589909G>A	ENST00000267082.5	-	7	1122	c.891C>T	c.(889-891)gaC>gaT	p.D297D	ITGB7_ENST00000422257.3_Silent_p.D297D|ITGB7_ENST00000338737.4_Silent_p.D297D|ITGB7_ENST00000550743.2_Silent_p.D297D	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	297	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAACTTCCCGTCCCCAGCTG	0.552													16	69					0	0	0	0	A	53589909	G	A	53589909	2	1	453	1	0	0	0	0	0	0	0	1	7953	1136	40	1		1	ITGB7	12	53589909	Silent	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	11689488	53589909	80261986	36	88529											
NFE2	4778	broad.mit.edu	37	chr12	54689025	54689025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgctggggaggacacGgggacatcctactgggccag	7	7	16	11	1	1	0	0	0	1	0	2	3	2	3	2	6	3	2	2	6	1	1			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:54689025G>A	ENST00000540264.2	-	1	517	c.8C>T	c.(7-9)cCg>cTg	p.P3L	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.P3L|NFE2_ENST00000435572.2_Missense_Mutation_p.P3L|NFE2_ENST00000312156.4_Missense_Mutation_p.P3L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	3	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGAGGACACGGGGACATCCT	0.547													16	28					0	0	0	0	A	54689025	G	A	54689025	3	1	453	1	0	0	0	0	1	0	0	0	10436	1116	39	1	1121	1	NFE2	12	54689025	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	1099116	54689025	79162870	37	88530											
TMTC3	160418	broad.mit.edu	37	chr12	88584341	88584341	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgactggaagaagcagatCagctgtaccgtcaagcaata	14	6	10	11	2	2	2	2	0	0	2	2	4	2	3	2	1	4	4	2	1	6	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:88584341C>T	ENST00000266712.6	+	12	1868	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	550						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGAAGCAGATCAGCTGTACCG	0.423													16	63					0	0	0	0	T	88584341	C	T	88584341	4	4	453	1	0	0	0	0	0	1	0	0	16356	827	29	2	1690	2	TMTC3	12	88584341	Nonsense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	33895316	88584341	45267554	38	88531											
ELK3	2004	broad.mit.edu	37	chr12	96617528	96617528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgataagctgagcagaGccctgcgatactattatgac	13	10	9	9	1	0	4	0	3	0	1	0	5	0	4	1	0	5	2	1	0	5	5			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:96617528G>A	ENST00000228741.3	+	2	510	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	ELK3_ENST00000552142.1_Missense_Mutation_p.A62T|RP11-394J1.2_ENST00000551844.1_RNA	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	62					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GCTGAGCAGAGCCCTGCGATA	0.468													10	44					0	0	0	0	A	96617528	G	A	96617528	3	1	453	1	0	0	0	0	1	0	0	0	5098	971	34	4	186	4	ELK3	12	96617528	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	8033187	96617528	37234367	39	88532											
HSP90B1	7184	broad.mit.edu	37	chr12	104336574	104336574	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtccagcagaaaagaGgtgagatgaactcataagtg	14	7	14	6	0	1	4	1	2	0	3	2	5	2	4	1	2	2	2	1	2	4	1			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:104336574G>A	ENST00000299767.5	+	12	1826	c.1644_splice	c.e12+1	p.E548_splice		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	548					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCAGAAAAGAGGTGAGATGAA	0.413													15	73					0	0	0	0	A	104336574	G	A	104336574	5	1	453	1	0	0	0	0	0	0	1	0	7455	1014	35	4	1690	4	HSP90B1	12	104336574	Splice_Site	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	7719046	104336574	29515321	40	88533											
DUOX2	50506	broad.mit.edu	37	chr15	45392063	45392063	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggtggtctgtgcaatgTccgagggtggcgaggcaaag	8	7	19	7	3	1	0	0	0	1	0	2	3	2	0	1	5	1	2	1	5	2	0			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr15:45392063T>A	ENST00000389039.6	-	25	3597	c.3212A>T	c.(3211-3213)gAc>gTc	p.D1071V	DUOX2_ENST00000603300.1_Missense_Mutation_p.D1071V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1071	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGTGCAATGTCCGAGGGTGG	0.607													8	24					0	0	0	0	A	45392063	T	A	45392063	3	1	453	1	0	0	0	0	1	0	0	0	4837	1667	58	5	1474	5	DUOX2	15	45392063	Missense_Mutation	SNP	T	TCGA-MT-A7BN-01A-12D-A34J-08		45392063	57139329	41	88534											
GNB5	10681	broad.mit.edu	37	chr15	52427914	52427914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctgcccgctctccacgtCccacagggcacatgtgccat	7	7	9	18	2	1	0	0	0	1	0	3	0	2	0	4	1	3	3	4	1	0	0			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr15:52427914C>T	ENST00000261837.7	-	8	732	c.667G>A	c.(667-669)Gac>Aac	p.D223N	GNB5_ENST00000358784.7_Missense_Mutation_p.D181N|GNB5_ENST00000396335.4_Missense_Mutation_p.D111N|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	223						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTCTCCACGTCCCACAGGGCA	0.612													20	70					0	0	0	0	T	52427914	C	T	52427914	3	4	453	1	0	0	0	0	1	0	0	0	6572	855	30	2	544	2	GNB5	15	52427914	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	7035851	52427914	50103478	42	88535											
RHBDF1	64285	broad.mit.edu	37	chr16	112635	112635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcctttagcgctgcctccGatggggactcgaaaacttca	9	10	10	12	3	1	0	1	0	0	0	4	3	3	1	3	2	3	1	3	2	3	3	rs143220179		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr16:112635G>A	ENST00000262316.6	-	7	996	c.854C>T	c.(853-855)tCg>tTg	p.S285L	RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	285					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CGCTGCCTCCGATGGGGACTC	0.617													65	301					0	0	0	0	A	112635	G	A	112635	3	1	453	1	0	0	0	0	1	0	0	0	13402	1059	37	1	1761	1	RHBDF1	16	112635	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08		112635	90242118	43	88536											
TAOK2	9344	broad.mit.edu	37	chr16	29994473	29994473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcatgtccatcagCgcctccagccagagcagctc	8	6	10	17	1	1	1	1	0	0	1	4	1	3	1	5	0	6	3	5	0	0	0			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr16:29994473C>T	ENST00000308893.4	+	12	2123	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	TAOK2_ENST00000416441.2_Silent_p.S187S|TAOK2_ENST00000543033.1_Silent_p.S360S|TAOK2_ENST00000279394.3_Silent_p.S360S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	360	Ser-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTCCATCAGCGCCTCCAGCC	0.632													42	103					0	0	0	0	T	29994473	C	T	29994473	2	4	453	1	0	0	0	0	0	0	0	1	15639	767	27	1		1	TAOK2	16	29994473	Silent	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	29881838	29994473	60360280	44	88537											
GLOD4	51031	broad.mit.edu	37	chr17	679148	679148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgacagcctggctagaagcGagcgtgattccctacaacaa	12	7	10	12	2	0	3	0	2	0	1	1	4	1	3	2	1	5	1	2	1	5	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:679148G>A	ENST00000301329.6	-	4	358	c.273C>T	c.(271-273)ctC>ctT	p.L91L	GLOD4_ENST00000536578.1_Silent_p.L82L|GLOD4_ENST00000301328.5_Silent_p.L106L	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	106						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGCTAGAAGCGAGCGTGATTC	0.493													19	79					0	0	0	0	A	679148	G	A	679148	2	1	453	1	0	0	0	0	0	0	0	1	6501	1045	37	1		1	GLOD4	17	679148	Silent	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08		679148	80516062	45	88538											
FGF11	2256	broad.mit.edu	37	chr17	7346396	7346396	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctccccttcacagtGgccatgtaccaggagccttc	6	12	7	16	0	3	0	1	0	2	0	5	1	3	1	5	2	2	1	5	2	1	4			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:7346396G>A	ENST00000293829.4	+	5	1203	c.607_splice	c.e5-1	p.V203_splice	FGF11_ENST00000575235.1_Splice_Site_p.V79_splice|FGF11_ENST00000575331.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000572907.1_Splice_Site_p.V79_splice|FGF11_ENST00000575398.1_Splice_Site_p.V79_splice|FGF11_ENST00000575082.1_Splice_Site_p.V79_splice	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	203					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				CCTTCACAGTGGCCATGTACC	0.597													14	17					0	0	0	0	A	7346396	G	A	7346396	5	1	453	1	0	0	0	0	0	0	1	0	5885	1362	47	4	627	4	FGF11	17	7346396	Splice_Site	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	6667248	7346396	73848814	46	88539											
TP53	7157	broad.mit.edu	37	chr17	7578207	7578207	+	Frame_Shift_Del	DEL	A	A	-																															tcatagggcaccaccacactAtgtcgaaaagtgtttctgtc																										TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:7578207delA	ENST00000420246.2	-	6	774	c.642delT	c.(640-642)cafs	p.H214fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H214fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H214fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.H214Q(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H214fs*7(1)|p.H214H(1)|p.H214_S215insX(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)		CCACCACACTATGTCGAAAAG	0.537		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)			25	22	---	---	---	---					-	7578207	A	-	7578207	7	5	453	1	0	1	0	1	0	0	0	0	16476	446	16	0	652	0	TP53	17	7578207	Frame_Shift_Del	DEL	A	TCGA-MT-A7BN-01A-12D-A34J-08	231811	7578207	73617003	47	88540											
NF1	4763	broad.mit.edu	37	chr17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctatagatctgcctggctCagaattcaccttctacattt	9	16	5	11	0	5	2	2	0	3	2	5	2	5	2	2	1	2	1	2	1	4	7			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					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.Q400*(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)		CTGCCTGGCTCAGAATTCACC	0.308			"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)			51	70					0	0	0	0	T	29528441	C	T	29528441	4	4	453	1	0	0	0	0	0	1	0	0	10426	827	29	2	1240	2	NF1	17	29528441	Nonsense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	21950234	29528441	51666769	48	88541											
UNC45B	146862	broad.mit.edu	37	chr17	33513437	33513437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgctgagctggccaagaaGctggtggagagtgagctgct	9	8	17	7	0	0	4	0	2	0	2	0	6	0	4	1	3	5	5	1	3	2	0			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:33513437G>C	ENST00000268876.5	+	20	2752	c.2655G>C	c.(2653-2655)aaG>aaC	p.K885N	UNC45B_ENST00000433649.1_Missense_Mutation_p.K883N|UNC45B_ENST00000378449.1_Missense_Mutation_p.K804N|UNC45B_ENST00000591048.1_Missense_Mutation_p.K804N|UNC45B_ENST00000394570.2_Missense_Mutation_p.K883N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	885					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCCAAGAAGCTGGTGGAGA	0.582													14	17					0	0	0	0	C	33513437	G	C	33513437	3	2	453	1	0	0	0	0	1	0	0	0	17085	962	34	4	2729	4	UNC45B	17	33513437	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	3984996	33513437	47681773	49	88542											
SLC16A5	9121	broad.mit.edu	37	chr17	73096475	73096475	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcacaacacaggctactgCgtgtacatactgggtgtgat	10	9	12	10	2	0	1	0	1	0	0	0	1	0	1	0	3	5	3	0	3	4	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:73096475C>T	ENST00000450736.2	+	4	1132	c.717C>T	c.(715-717)tgC>tgT	p.C239C	SLC16A5_ENST00000538213.2_Silent_p.C279C|SLC16A5_ENST00000580123.1_Silent_p.C239C|SLC16A5_ENST00000329783.4_Silent_p.C239C			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	239					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CAGGCTACTGCGTGTACATAC	0.627													28	18					0	0	0	0	T	73096475	C	T	73096475	2	4	453	1	0	0	0	0	0	0	0	1	14499	776	27	1		1	SLC16A5	17	73096475	Silent	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	39583038	73096475	8098735	50	88543											
FASN	2194	broad.mit.edu	37	chr17	80044961	80044961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcctgcagggcagcgCgctcagacaggcacccctcc	6	5	11	19	2	1	1	1	0	0	1	4	1	4	1	5	2	2	5	5	2	0	0	rs147660865		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:80044961C>T	ENST00000306749.2	-	21	3610	c.3392G>A	c.(3391-3393)cGc>cAc	p.R1131H		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1131					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAGGGCAGCGCGCTCAGACAG	0.667													3	15					0	0	0	0	T	80044961	C	T	80044961	3	4	453	1	0	0	0	0	1	0	0	0	5728	768	27	1	4235	1	FASN	17	80044961	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	6948486	80044961	1150249	51	88544											
ZNF407	55628	broad.mit.edu	37	chr18	72343909	72343909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaacttctaaatcaataGcaaagaatagtgattcaaaa	21	9	5	6	0	3	3	2	1	1	2	3	3	3	3	0	0	2	1	0	0	11	5			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr18:72343909G>A	ENST00000299687.5	+	1	934	c.934G>A	c.(934-936)Gca>Aca	p.A312T	ZNF407_ENST00000582337.1_Missense_Mutation_p.A312T|ZNF407_ENST00000577538.1_Missense_Mutation_p.A312T|ZNF407_ENST00000309902.6_Missense_Mutation_p.A312T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAAATCAATAGCAAAGAATAG	0.333													45	44					0	0	0	0	A	72343909	G	A	72343909	3	1	453	1	0	0	0	0	1	0	0	0	17982	971	34	4	936	4	ZNF407	18	72343909	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08		72343909	5733339	52	88545											
DAPK3	1613	broad.mit.edu	37	chr19	3964910	3964910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccggctggatgacaggcGgcgcttcttgatgaacttgg	7	9	15	10	4	1	3	0	3	1	0	1	4	1	4	1	5	1	2	1	5	1	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:3964910G>A	ENST00000545797.2	-	3	385	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	DAPK3_ENST00000301264.3_Missense_Mutation_p.R48C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	48	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGACAGGCGGCGCTTCTTG	0.652													16	64					0	0	0	0	A	3964910	G	A	3964910	3	1	453	1	0	0	0	0	1	0	0	0	4270	1116	39	1	1250	1	DAPK3	19	3964910	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08		3964910	55164073	53	88546											
VAV1	7409	broad.mit.edu	37	chr19	6854107	6854107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggggagatctatggcCgggtgaggcaggcagggctg	7	5	22	7	2	1	2	0	1	1	1	1	4	1	2	1	8	0	3	1	8	1	1			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:6854107C>T	ENST00000304076.2	+	25	2510	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	VAV1_ENST00000602142.1_Missense_Mutation_p.R828W|VAV1_ENST00000599806.1_Missense_Mutation_p.R773W|VAV1_ENST00000596764.1_Missense_Mutation_p.R796W|VAV1_ENST00000539284.1_Missense_Mutation_p.R731W	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	828	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GATCTATGGCCGGGTGAGGCA	0.627													14	37					0	0	0	0	T	6854107	C	T	6854107	3	4	453	1	0	0	0	0	1	0	0	0	17227	643	23	1	2584	1	VAV1	19	6854107	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	2889197	6854107	52274876	54	88547											
CACNA1A	773	broad.mit.edu	37	chr19	13476249	13476249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgcagcaaagggatcatCgccttcatgatcgacttcag	11	10	9	11	2	4	1	3	1	1	0	6	3	4	2	1	1	2	2	1	1	1	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:13476249C>T	ENST00000360228.5	-	5	665	c.666G>A	c.(664-666)gcG>gcA	p.A222A	CACNA1A_ENST00000573710.2_Silent_p.A222A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	222					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGGGATCATCGCCTTCATGA	0.473													14	32					0	0	0	0	T	13476249	C	T	13476249	2	4	453	1	0	0	0	0	0	0	0	1	2563	871	31	1		1	CACNA1A	19	13476249	Silent	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	6622142	13476249	45652734	55	88548											
SLC7A10	56301	broad.mit.edu	37	chr19	33702228	33702228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcccagcagcttctcccCgaaggtctgggtgggcacag	7	7	14	13	1	2	0	0	0	2	0	3	1	2	0	3	3	3	4	3	3	2	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:33702228C>T	ENST00000253188.3	-	7	1065	c.919G>A	c.(919-921)Ggg>Agg	p.G307R		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	307					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					AGCTTCTCCCCGAAGGTCTGG	0.622													9	90					0	0	0	0	T	33702228	C	T	33702228	3	4	453	1	0	0	0	0	1	0	0	0	14781	652	23	1	672	1	SLC7A10	19	33702228	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	20225979	33702228	25426755	56	88549											
CLIP3	25999	broad.mit.edu	37	chr19	36508625	36508625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaagtaccggacaccgaaGacagagccatcatgcttgcc	12	6	11	12	2	1	3	1	1	0	2	1	5	1	4	4	1	4	2	4	1	3	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:36508625G>A	ENST00000360535.4	-	11	1610	c.1383C>T	c.(1381-1383)gtC>gtT	p.V461V	CLIP3_ENST00000593074.1_Silent_p.V461V|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	461	CAP-Gly 2.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACACCGAAGACAGAGCCAT	0.597													13	63					0	0	0	0	A	36508625	G	A	36508625	2	1	453	1	0	0	0	0	0	0	0	1	3564	929	33	2		2	CLIP3	19	36508625	Silent	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	2806397	36508625	22620358	57	88550											
CYP2B6	1555	broad.mit.edu	37	chr19	41512851	41512851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttccagtccattaccGccaacatcatctgctccatc	8	12	3	18	1	3	0	1	0	2	0	8	0	7	0	6	0	3	1	6	0	2	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:41512851G>A	ENST00000324071.4	+	4	533	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	176					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GTCCATTACCGCCAACATCAT	0.498													23	28					0	0	0	0	A	41512851	G	A	41512851	3	1	453	1	0	0	0	0	1	0	0	0	4196	1087	38	1	540	1	CYP2B6	19	41512851	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	5004226	41512851	17616132	58	88551											
NLRP7	199713	broad.mit.edu	37	chr19	55435237	55435237	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattagtttcataggtcttCaacctggagggatcagagaa	14	11	10	6	0	4	1	3	0	1	1	4	4	4	3	1	3	1	1	1	3	5	4			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:55435237C>T	ENST00000446217.1	-	13	3471	c.3069G>A	c.(3067-3069)ttG>ttA	p.L1023L	NLRP7_ENST00000592784.1_Silent_p.L995L|NLRP7_ENST00000328092.5_Silent_p.L967L|NLRP7_ENST00000448121.2_Silent_p.L967L|NLRP7_ENST00000590030.1_Silent_p.L938L|NLRP7_ENST00000588756.1_Silent_p.L995L|NLRP7_ENST00000340844.2_Silent_p.L938L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATAGGTCTTCAACCTGGAGG	0.423													9	109					0	0	0	0	T	55435237	C	T	55435237	2	4	453	1	0	0	0	0	0	0	0	1	10552	825	29	2		2	NLRP7	19	55435237	Silent	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	13922386	55435237	3693746	59	88552											
PTPRH	5794	broad.mit.edu	37	chr19	55718097	55718097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagagctatttactccGtctttctccacccacacaga	10	10	4	17	1	2	2	0	0	2	2	4	2	3	2	4	0	2	1	4	0	2	4			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:55718097G>A	ENST00000376350.3	-	3	334	c.312C>T	c.(310-312)gaC>gaT	p.D104D	PTPRH_ENST00000263434.5_Silent_p.D104D|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	104	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D104D(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TATTTACTCCGTCTTTCTCCA	0.507													46	212					0	0	0	0	A	55718097	G	A	55718097	2	1	453	1	0	0	0	0	0	0	0	1	12885	1136	40	1		1	PTPRH	19	55718097	Silent	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	282860	55718097	3410886	60	88553											
SYCP2	10388	broad.mit.edu	37	chr20	58467325	58467325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaggatgattttgttgcTgattgtgtttcttgcaaact	8	20	9	4	0	1	2	0	2	1	0	1	3	1	3	0	1	3	4	0	1	2	8			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr20:58467325T>C	ENST00000357552.3	-	24	2309	c.2084A>G	c.(2083-2085)cAg>cGg	p.Q695R	SYCP2_ENST00000371001.2_Missense_Mutation_p.Q695R			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	695					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTGTTGCTGATTGTGTTT	0.343													29	154					0	0	0	0	C	58467325	T	C	58467325	3	2	453	1	0	0	0	0	1	0	0	0	15523	1580	55	5	2596	5	SYCP2	20	58467325	Missense_Mutation	SNP	T	TCGA-MT-A7BN-01A-12D-A34J-08		58467325	4558195	61	88554											
MICAL3	57553	broad.mit.edu	37	chr22	18304795	18304795	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccatcaaagacaggctcaCctctctcttggtgcttcggt	7	12	8	14	1	4	1	2	0	2	1	7	1	5	1	2	3	1	2	2	3	1	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:18304795C>A	ENST00000441493.2	-	24	3801		c.e24+1			NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GACAGGCTCACCTCTCTCTTG	0.582													62	44					2.01871e-26	2.29909e-26	1	0	A	18304795	C	A	18304795	5	1	453	1	0	0	0	0	0	0	1	0	9640	521	18	4	2595	4	MICAL3	22	18304795	Splice_Site	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08		18304795	32999771	62	88555											
APOL6	80830	broad.mit.edu	37	chr22	36055263	36055263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcccggagccgcgtgcagGtgcaaaaggcctttgcggga	7	6	15	13	4	0	0	0	0	0	0	1	2	1	2	4	4	4	2	4	4	2	1			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:36055263G>A	ENST00000409652.3	+	3	928	c.652G>A	c.(652-654)Gtg>Atg	p.V218M		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	218					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CCGCGTGCAGGTGCAAAAGGC	0.582													4	80					0	0	0	0	A	36055263	G	A	36055263	3	1	453	1	0	0	0	0	1	0	0	0	812	1261	44	4	658	4	APOL6	22	36055263	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	17750468	36055263	15249303	63	88556											
ARHGAP8	23779	broad.mit.edu	37	chr22	45244837	45244837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgaactttgacgactaCggggacattcacatccctgc	9	9	9	14	3	1	2	1	2	0	0	2	4	2	3	2	2	3	0	2	2	2	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:45244837C>T	ENST00000517296.3	+	15	1404	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	ARHGAP8_ENST00000389774.2_Silent_p.Y289Y|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.Y389Y|ARHGAP8_ENST00000356099.6_Silent_p.Y258Y|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.Y468Y|ARHGAP8_ENST00000389773.5_Silent_p.Y380Y|ARHGAP8_ENST00000336963.4_Silent_p.Y258Y					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TTGACGACTACGGGGACATTC	0.607													80	57					0	0	0	0	T	45244837	C	T	45244837	2	4	453	1	0	0	0	0	0	0	0	1	890	547	19	1		1	ARHGAP8	22	45244837	Silent	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	9189574	45244837	6059729	64	88557											
ARSD	414	broad.mit.edu	37	chrX	2828811	2828811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagttctttaaaccattgtCttcgatggcattaagaacct	11	15	7	8	1	2	2	0	1	2	1	3	3	2	2	2	1	2	2	2	1	4	6			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:2828811C>G	ENST00000381154.1	-	7	1099	c.1024G>C	c.(1024-1026)Gac>Cac	p.D342H		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	342						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAACCATTGTCTTCGATGGCA	0.433													25	36					0	0	0	0	G	2828811	C	G	2828811	3	3	453	1	0	0	0	0	1	0	0	0	993	913	32	2	773	2	ARSD	23	2828811	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08		2828811	152441749	65	88558											
FANCB	2187	broad.mit.edu	37	chrX	14877435	14877435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctatcagtactaagctaaGtttttcccatttagcagcaa	13	14	5	9	0	2	0	1	0	1	0	3	0	3	0	1	0	4	5	1	0	6	8			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:14877435G>T	ENST00000398334.1	-	4	1240	c.973C>A	c.(973-975)Ctt>Att	p.L325I	FANCB_ENST00000324138.3_Missense_Mutation_p.L325I	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	325					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACTAAGCTAAGTTTTTCCCAT	0.343								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	10					7.03913e-09	7.49621e-09	1	0	T	14877435	G	T	14877435	3	4	453	1	0	0	0	0	1	0	0	0	5708	1029	36	4	1634	4	FANCB	23	14877435	Missense_Mutation	SNP	G	TCGA-MT-A7BN-01A-12D-A34J-08	12048624	14877435	140393125	66	88559											
DGKK	139189	broad.mit.edu	37	chrX	50167323	50167323	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcttgaaagagttacAgttcttcagcataggtcctt	10	14	7	10	0	3	2	1	1	2	1	5	2	4	2	2	1	2	3	2	1	3	6			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:50167323A>G	ENST00000376025.2	-	0	738							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAAGAGTTACAGTTCTTCAGC	0.378													12	14					0	0	0	0	G	50167323	A	G	50167323	1	3	453	0	1	0	0	0	0	0	0	0	4509	188	7	5		5	DGKK	23	50167323	RNA	SNP	A	TCGA-MT-A7BN-01A-12D-A34J-08	35289888	50167323	105103237	67	88560											
TMEM31	203562	broad.mit.edu	37	chrX	102968788	102968788	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagatcggactgcccatCatactccacctcttcgcact	11	9	6	15	2	2	1	1	0	1	1	5	3	3	2	3	1	2	1	3	1	3	2			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:102968788C>A	ENST00000319560.6	+	3	560	c.369C>A	c.(367-369)atC>atA	p.I123I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	123						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GACTGCCCATCATACTCCACC	0.408													57	24					4.6707e-30	5.39433e-30	1	0	A	102968788	C	A	102968788	2	1	453	1	0	0	0	0	0	0	0	1	16249	816	29	2		2	TMEM31	23	102968788	Silent	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	52801465	102968788	52301772	68	88561											
IGSF1	3547	broad.mit.edu	37	chrX	130409574	130409574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tattggtgatggggaatgccCcgtcattactggtggatccc	7	12	13	9	1	1	1	1	1	0	0	2	3	2	3	3	5	2	0	3	5	3	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:130409574C>T	ENST00000370904.1	-	22	3945	c.3035G>A	c.(3034-3036)gGg>gAg	p.G1012E	IGSF1_ENST00000370903.3_Missense_Mutation_p.G1026E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1012E|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1021E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1021	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGGAATGCCCCGTCATTACT	0.522													44	23					0	0	0	0	T	130409574	C	T	130409574	3	4	453	1	0	0	0	0	1	0	0	0	7649	623	22	4	968	4	IGSF1	23	130409574	Missense_Mutation	SNP	C	TCGA-MT-A7BN-01A-12D-A34J-08	27440786	130409574	24860986	69	88562											
MAGEA10	4109	broad.mit.edu	37	chrX	151303875	151303875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcatcagcagaaaccTcctctggggtgcttggtatt	8	13	9	11	0	4	1	3	0	2	1	6	1	5	1	2	3	3	3	2	3	2	3			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:151303875T>C	ENST00000370323.4	-	4	534	c.218A>G	c.(217-219)gAg>gGg	p.E73G	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E73G	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	73										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAACCTCCTCTGGGGT	0.527													30	57					0	0	0	0	C	151303875	T	C	151303875	3	2	453	1	0	0	0	0	1	0	0	0	9229	1551	54	5	895	5	MAGEA10	23	151303875	Missense_Mutation	SNP	T	TCGA-MT-A7BN-01A-12D-A34J-08	20894301	151303875	3966685	70	88563											
AGRN	375790	broad.mit.edu	37	chr1	977080	977080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccggccagtgccagggtcGaggtgagcggctcccccggg	4	5	17	15	4	0	1	0	1	0	0	3	2	2	1	5	5	2	1	5	5	0	0			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:977080G>A	ENST00000379370.2	+	6	1225	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	392					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCAGGGTCGAGGTGAGCGG	0.731													3	6					0	0	0	0	A	977080	G	A	977080	3	1	454	1	0	0	0	0	1	0	0	0	397	1058	37	1	1197	1	AGRN	1	977080	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08		977080	248273541	1	88564											
NRD1	4898	broad.mit.edu	37	chr1	52263977	52263977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagagctgggatttgaattCtttgacgaagctcagcagag	13	10	12	6	1	2	4	1	2	1	2	2	6	2	5	0	1	3	3	0	1	3	3			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:52263977C>G	ENST00000354831.7	-	24	2941	c.2752G>C	c.(2752-2754)Gaa>Caa	p.E918Q	NRD1_ENST00000544028.1_Missense_Mutation_p.E718Q|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|NRD1_ENST00000539524.1_Missense_Mutation_p.E786Q|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000352171.7_Missense_Mutation_p.E850Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	849					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.E918*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GATTTGAATTCTTTGACGAAG	0.488													27	80					0	0	0	0	G	52263977	C	G	52263977	3	3	454	1	0	0	0	0	1	0	0	0	10716	922	32	2	947	2	NRD1	1	52263977	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	51286897	52263977	196986644	2	88565											
SPRR2E	6704	broad.mit.edu	37	chr1	153066065	153066065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggggaaggtgtcacaggagGacatttttgctggcactgct	8	11	15	7	0	1	0	1	0	0	0	1	3	1	3	0	6	2	3	0	6	1	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:153066065G>A	ENST00000368751.1	-	2	237	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P55S			P22531	SPR2E_HUMAN	small proline-rich protein 2E	55					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGACATTTTTGC	0.552													82	305					0	0	0	0	A	153066065	G	A	153066065	3	1	454	1	0	0	0	0	1	0	0	0	15190	1174	41	2	59	2	SPRR2E	1	153066065	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	100802088	153066065	96184556	3	88566											
DENND4B	9909	broad.mit.edu	37	chr1	153909074	153909074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcacatggtaggctgTgtgcagtgcctgcactcggg	6	8	16	11	2	0	0	0	0	0	0	1	0	0	0	1	3	4	6	1	3	1	1			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:153909074T>C	ENST00000361217.4	-	16	2801	c.2383A>G	c.(2383-2385)Aca>Gca	p.T795A		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	795										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTAGGCTGTGTGCAGTGCC	0.632													3	18					0	0	0	0	C	153909074	T	C	153909074	3	2	454	1	0	0	0	0	1	0	0	0	4471	1696	59	5	2159	5	DENND4B	1	153909074	Missense_Mutation	SNP	T	TCGA-MZ-A5BI-01A-31D-A34J-08	843009	153909074	95341547	4	88567											
OR10K1	391109	broad.mit.edu	37	chr1	158435707	158435707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcctgctggcagccatggGctatgatcgctatatggcca	7	11	11	12	1	0	1	0	1	0	0	2	1	1	1	3	3	2	4	3	3	3	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:158435707G>A	ENST00000289451.2	+	1	436	c.356G>A	c.(355-357)gGc>gAc	p.G119D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GCAGCCATGGGCTATGATCGC	0.537													9	173					0	0	0	0	A	158435707	G	A	158435707	3	1	454	1	0	0	0	0	1	0	0	0	10984	1203	42	4	358	4	OR10K1	1	158435707	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	4526633	158435707	90814914	5	88568											
SRGAP2	23380	broad.mit.edu	37	chr1	206592730	206592730	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttccaacaggtcagCggacagattgcagtctagcc	9	11	11	10	1	2	1	1	0	1	1	3	2	3	2	2	2	4	2	2	2	2	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:206592730C>A	ENST00000414007.1	+	8	1027	c.1027C>A	c.(1027-1029)Cgg>Agg	p.R343R	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	483					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AACAGGTCAGCGGACAGATTG	0.512													5	46					1.23904e-05	1.30204e-05	1	0	A	206592730	C	A	206592730	2	1	454	1	0	0	0	0	0	0	0	1	15236	759	27	3		3	SRGAP2	1	206592730	Silent	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	48157023	206592730	42657891	6	88569											
NRXN1	9378	broad.mit.edu	37	chr2	51255256	51255256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagctggaagctcatctcGctctcgcagcaggcgttcca	7	10	11	13	3	3	1	1	1	2	0	6	2	4	2	1	2	3	6	1	2	1	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:51255256G>A	ENST00000404971.1	-	2	1495	c.156C>T	c.(154-156)agC>agT	p.S52S	NRXN1_ENST00000402717.3_Silent_p.S52S|NRXN1_ENST00000405581.1_Silent_p.S52S|NRXN1_ENST00000401669.2_Silent_p.S52S|NRXN1_ENST00000406859.3_Silent_p.S52S|NRXN1_ENST00000405472.3_Silent_p.S52S|NRXN1_ENST00000406316.2_Silent_p.S52S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	52	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCTCATCTCGCTCTCGCAGC	0.672													5	12					0	0	0	0	A	51255256	G	A	51255256	2	1	454	1	0	0	0	0	0	0	0	1	10736	1078	38	1		1	NRXN1	2	51255256	Silent	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08		51255256	191944117	7	88570											
TTN	7273	broad.mit.edu	37	chr2	179472151	179472151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacttctaccctggctgctGcaaatttggaaccacagcta	12	10	7	12	0	1	0	0	0	1	0	1	1	1	1	2	2	6	4	2	2	5	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:179472151G>A	ENST00000589042.1	-	277	53488	c.53264C>T	c.(53263-53265)gCa>gTa	p.A17755V	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16114V|TTN_ENST00000359218.5_Missense_Mutation_p.A8815V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15187V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8882V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8690V|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16114	Ig-like 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGCTGCTGCAAATTTGGA	0.378													5	211					0	0	0	0	A	179472151	G	A	179472151	3	1	454	1	0	0	0	0	1	0	0	0	16831	1319	46	4	54773	4	TTN	2	179472151	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	128216895	179472151	63727222	8	88571											
COL4A3	1285	broad.mit.edu	37	chr2	228131136	228131136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtatttttataggtgAcatcgtttttcgcaagggtc	7	17	11	6	2	0	1	0	1	0	0	3	1	0	1	0	2	1	4	0	2	4	7			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:228131136A>T	ENST00000396578.3	+	22	1481	c.1319A>T	c.(1318-1320)gAc>gTc	p.D440V	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	440	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTATAGGTGACATCGTTTTT	0.388													4	39					0	0	0	0	T	228131136	A	T	228131136	3	4	454	1	0	0	0	0	1	0	0	0	3721	275	10	5	1405	5	COL4A3	2	228131136	Missense_Mutation	SNP	A	TCGA-MZ-A5BI-01A-31D-A34J-08	48658985	228131136	15068237	9	88572											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	8	10	14	9	3	0	2	0	1	0	1	2	5	1	3	2	2	2	1	2	2	2	3			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597													5	257					0	0	0	0	T	124418865	C	T	124418865	4	4	454	1	0	0	0	0	0	1	0	0	8028	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08		124418865	73603565	10	88573											
IFT122	55764	broad.mit.edu	37	chr3	129196910	129196910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattgccatctacagaaatcGattggctatccaactgccag	12	10	8	11	1	1	1	0	0	1	1	3	3	2	1	3	1	4	1	3	1	4	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:129196910G>A	ENST00000296266.3	+	13	1544	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	IFT122_ENST00000507564.1_Missense_Mutation_p.R392Q|IFT122_ENST00000504021.1_Missense_Mutation_p.R294Q|IFT122_ENST00000440957.2_Missense_Mutation_p.R191Q|IFT122_ENST00000349441.2_Missense_Mutation_p.R289Q|IFT122_ENST00000348417.2_Missense_Mutation_p.R400Q|IFT122_ENST00000347300.2_Missense_Mutation_p.R341Q|IFT122_ENST00000431818.2_Missense_Mutation_p.R250Q	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	400					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TACAGAAATCGATTGGCTATC	0.378													18	189					0	0	0	0	A	129196910	G	A	129196910	3	1	454	1	0	0	0	0	1	0	0	0	7608	1058	37	1	1402	1	IFT122	3	129196910	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	4778045	129196910	68825520	11	88574											
MYNN	55892	broad.mit.edu	37	chr3	169500368	169500368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaagccttatgtatgtGatacctgtgggaaggcattt	12	12	12	5	0	0	2	0	1	0	1	0	4	0	3	2	2	2	2	2	2	6	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:169500368G>T	ENST00000349841.5	+	5	1999	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y	MYNN_ENST00000544106.1_Missense_Mutation_p.D446Y|MYNN_ENST00000392733.1_Missense_Mutation_p.D446Y|MYNN_ENST00000356716.4_Missense_Mutation_p.D446Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	446						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTATGTATGTGATACCTGTGG	0.428													13	189					0.00136819	0.00139062	1	0	T	169500368	G	T	169500368	3	4	454	1	0	0	0	0	1	0	0	0	10131	1290	45	2	1350	2	MYNN	3	169500368	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	40303458	169500368	28522062	12	88575											
NAALADL2	254827	broad.mit.edu	37	chr3	175293954	175293954	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatcgtgcagtttgcttaCgaggacatcaaaacattaga	13	10	8	10	2	1	1	1	0	0	1	2	3	1	2	1	1	4	3	1	1	4	3			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:175293954C>T	ENST00000454872.1	+	10	1907	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	593					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGTTTGCTTACGAGGACATCA	0.393													39	243					0	0	0	0	T	175293954	C	T	175293954	2	4	454	1	0	0	0	0	0	0	0	1	10200	547	19	1		1	NAALADL2	3	175293954	Silent	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	5793586	175293954	22728476	13	88576											
WDR1	9948	broad.mit.edu	37	chr4	10083067	10083067	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcacaactccttgtcCgctgttagagagaaaggaag	12	10	10	9	1	1	2	1	0	0	2	3	4	3	3	2	1	1	3	2	1	4	3			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr4:10083067C>T	ENST00000382452.2	-	11	1480	c.1196_splice	c.e11-1	p.G400_splice	WDR1_ENST00000502702.1_Splice_Site_p.G260_splice|WDR1_ENST00000499869.2_Splice_Site_p.G400_splice|WDR1_ENST00000382451.2_Splice_Site_p.G260_splice|WDR1_ENST00000515743.1_5'UTR	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	400					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACTCCTTGTCCGCTGTTAGAG	0.512													7	66					0	0	0	0	T	10083067	C	T	10083067	5	4	454	1	0	0	0	0	0	0	1	0	17368	666	23	1	642	1	WDR1	4	10083067	Splice_Site	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08		10083067	181071209	14	88577											
PCDHB13	56123	broad.mit.edu	37	chr5	140595249	140595249	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgttcgccctcaggtcTctggactacgaggccctgca	6	9	10	16	2	2	0	1	0	1	0	4	2	2	1	3	3	2	2	3	3	1	2	rs144959109	byFrequency	TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr5:140595249T>C	ENST00000341948.4	+	1	1741	c.1554T>C	c.(1552-1554)tcT>tcC	p.S518S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S518S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCTCTGGACTACG	0.692													5	235					0	0	0	0	C	140595249	T	C	140595249	2	2	454	1	0	0	0	0	0	0	0	1	11609	1538	54	5		5	PCDHB13	5	140595249	Silent	SNP	T	TCGA-MZ-A5BI-01A-31D-A34J-08		140595249	40320011	15	88578											
MGAT1	4245	broad.mit.edu	37	chr5	180219055	180219079	+	Frame_Shift_Del	DEL	GGGCGTATGCAGGCCCGCCCCTGCC	GGGCGTATGCAGGCCCGCCCCTGCC	-																															tcatcgttcttgagatctcaGggcgtatgcaggcccgcccc																								rs146807317		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr5:180219055_180219079delGGGCGTATGCAGGCCCGCCCCTGCC	ENST00000446023.2	-	3	1643_1667	c.893_917delGGCAGGGGCGGGCCTGCATACGCCC	c.(892-918)ctfs	p.RQGRACIRP298fs	MGAT1_ENST00000427865.2_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000307826.4_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000333055.3_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000393340.3_Frame_Shift_Del_p.RQGRACIRP298fs	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	298					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGATCTCAGGGCGTATGCAGGCCCGCCCCTGCCGCTGCTCCGG	0.627													18	47	---	---	---	---					-	180219079	GGGCGTATGCAGGCCCGCCCCTGCC	-	180219055	7	5	454	1	0	1	0	1	0	0	0	0	9611	1000	35	0	424	0	MGAT1	5	180219055	Frame_Shift_Del	DEL	GGGCGTATGCAGGCCCGCCCCTGCC	TCGA-MZ-A5BI-01A-31D-A34J-08	39623806	180219055	696205	16	88579											
TRDN	10345	broad.mit.edu	37	chr6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A																															ctacaatagagatctttaagINSaaaaaaaaaagtacttgcct																										TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)ttafs	p.L297fs	RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													2	4	---	---	---	---					A	123786033	-	A	123786032	7	5	454	1	0	1	1	0	0	0	0	0	16563	957	33	0		0	TRDN	6	123786032	Frame_Shift_Ins	INS	-	TCGA-MZ-A5BI-01A-31D-A34J-08		123786032	47329035	17	88580											
SHPRH	257218	broad.mit.edu	37	chr6	146262872	146262872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggttccgtaggcgacGcccatcctcactattgctat	6	13	8	14	3	2	0	1	0	1	0	4	1	4	0	3	2	1	3	3	2	3	6			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr6:146262872G>A	ENST00000367503.3	-	10	2775	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	SHPRH_ENST00000275233.7_Missense_Mutation_p.R793C|SHPRH_ENST00000367505.2_Missense_Mutation_p.R793C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CGTAGGCGACGCCCATCCTCA	0.468													10	82					0	0	0	0	A	146262872	G	A	146262872	3	1	454	1	0	0	0	0	1	0	0	0	14379	1087	38	1	2802	1	SHPRH	6	146262872	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	22476840	146262872	24852195	18	88581											
PEX1	5189	broad.mit.edu	37	chr7	92130948	92130948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgcaggaagaaatccgCggagagccttttggaagtcc	13	6	13	9	3	0	3	0	0	0	3	2	6	2	5	3	3	1	1	3	3	4	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr7:92130948C>A	ENST00000248633.4	-	15	2551	c.2456G>T	c.(2455-2457)cGc>cTc	p.R819L	PEX1_ENST00000428214.1_Missense_Mutation_p.R762L|PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.R497L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	819					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAGAAATCCGCGGAGAGCCTT	0.368													4	132					1	1	1	0	A	92130948	C	A	92130948	3	1	454	1	0	0	0	0	1	0	0	0	11807	768	27	3	1435	3	PEX1	7	92130948	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08		92130948	67007715	19	88582											
RELN	5649	broad.mit.edu	37	chr7	103230055	103230055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttacctggatgcaagaGaccttggaataacaatggtg	13	11	10	7	0	0	1	0	0	0	1	0	4	0	3	2	3	4	1	2	3	6	5			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr7:103230055G>A	ENST00000424685.2	-	28	4292	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F	RELN_ENST00000428762.1_Missense_Mutation_p.S1378F|RELN_ENST00000343529.5_Missense_Mutation_p.S1378F			P78509	RELN_HUMAN	reelin	1378					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S1378F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGATGCAAGAGACCTTGGAAT	0.408													76	129					0	0	0	0	A	103230055	G	A	103230055	3	1	454	1	0	0	0	0	1	0	0	0	13302	942	33	2	6401	2	RELN	7	103230055	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	11099107	103230055	55908608	20	88583											
ASPH	444	broad.mit.edu	37	chr8	62559377	62559377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgccataagaaactcaTcatcctcttgttgtggttct	9	14	7	11	1	4	1	2	0	2	1	6	1	5	1	2	1	1	2	2	1	2	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:62559377T>A	ENST00000541428.1	-	6	624	c.464A>T	c.(463-465)gAt>gTt	p.D155V	ASPH_ENST00000517847.2_Missense_Mutation_p.D170V|ASPH_ENST00000379454.4_Missense_Mutation_p.D184V|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517903.1_Missense_Mutation_p.D170V|ASPH_ENST00000356457.5_Missense_Mutation_p.D184V|ASPH_ENST00000445642.3_Missense_Mutation_p.D170V|ASPH_ENST00000522835.1_Intron	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	184	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AAGAAACTCATCATCCTCTTG	0.403													6	477					0	0	0	0	A	62559377	T	A	62559377	3	1	454	1	0	0	0	0	1	0	0	0	1057	1435	50	5	1817	5	ASPH	8	62559377	Missense_Mutation	SNP	T	TCGA-MZ-A5BI-01A-31D-A34J-08		62559377	83804645	21	88584											
ANXA13	312	broad.mit.edu	37	chr8	124693564	124693564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagagacttctgatacttCtcttggaactttgctttgat	9	16	9	7	0	2	4	0	2	2	2	3	7	2	5	0	1	3	1	0	1	2	6			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:124693564C>T	ENST00000262219.6	-	12	1057	c.990G>A	c.(988-990)gaG>gaA	p.E330E	ANXA13_ENST00000419625.1_Silent_p.E289E	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	289					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTGATACTTCTCTTGGAACT	0.478													63	248					0	0	0	0	T	124693564	C	T	124693564	2	4	454	1	0	0	0	0	0	0	0	1	716	912	32	2		2	ANXA13	8	124693564	Silent	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	62134187	124693564	21670458	22	88585											
MTSS1	9788	broad.mit.edu	37	chr8	125575169	125575169	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggtagcggtaatgtgAgctgggggaatgcgagtggg	7	8	21	5	3	0	1	0	1	0	0	0	3	0	2	0	5	4	4	0	5	3	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:125575169A>C	ENST00000518547.1	-	10	1362	c.889T>G	c.(889-891)Tca>Gca	p.S297A	MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.S301A|MTSS1_ENST00000395508.2_Missense_Mutation_p.S31A|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000524090.1_Missense_Mutation_p.S187A|MTSS1_ENST00000354184.4_Missense_Mutation_p.S97A|MTSS1_ENST00000431961.2_Missense_Mutation_p.S97A|MTSS1_ENST00000378017.3_Missense_Mutation_p.S297A	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	297	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGTAATGTGAGCTGGGGGAA	0.622													11	26					0	0	0	0	C	125575169	A	C	125575169	3	2	454	1	0	0	0	0	1	0	0	0	10032	304	11	5	1398	5	MTSS1	8	125575169	Missense_Mutation	SNP	A	TCGA-MZ-A5BI-01A-31D-A34J-08	881605	125575169	20788853	23	88586											
KIF27	55582	broad.mit.edu	37	chr9	86518838	86518838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggagtgctcattcatttGagtggtacctgtatgtctgg	6	15	13	7	0	3	1	2	1	1	0	3	2	3	2	1	3	2	4	1	3	2	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:86518838G>C	ENST00000297814.2	-	4	738	c.595C>G	c.(595-597)Caa>Gaa	p.Q199E	KIF27_ENST00000334204.2_Missense_Mutation_p.Q199E|KIF27_ENST00000413982.1_Missense_Mutation_p.Q199E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	199	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCATTCATTTGAGTGGTACCT	0.433													64	211					0	0	0	0	C	86518838	G	C	86518838	3	2	454	1	0	0	0	0	1	0	0	0	8347	1299	45	2	3670	2	KIF27	9	86518838	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08		86518838	54694593	24	88587											
ABL1	25	broad.mit.edu	37	chr9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-																															acttgttcagcgccttgatcAagaagaagaagaagacagcc																										TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								9	186	---	---	---	---					-	133759492	AAG	-	133759490	7	5	454	1	0	1	0	1	0	0	0	0	92	131	5	0	1995	0	ABL1	9	133759490	In_Frame_Del	DEL	AAG	TCGA-MZ-A5BI-01A-31D-A34J-08	47240652	133759490	7453941	25	88588											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136401741	136401741	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgaggcctgggcactGgctgggccccgagggctctt	5	8	15	13	1	1	1	0	1	1	0	1	2	1	1	4	5	1	3	4	5	1	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:136401741G>T	ENST00000393061.3	+	2	666	c.234G>T	c.(232-234)ctG>ctT	p.L78L	ADAMTSL2_ENST00000354484.4_5'UTR|ADAMTSL2_ENST00000393060.1_5'UTR			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	484	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCTGGGCACTGGCTGGGCCCC	0.597													4	29					0.000602214	0.000622288	1	0	T	136401741	G	T	136401741	2	4	454	1	0	0	0	0	0	0	0	1	275	1363	47	4		4	ADAMTSL2	9	136401741	Silent	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	2642251	136401741	4811690	26	88589											
SFMBT2	57713	broad.mit.edu	37	chr10	7325965	7325965	+	Frame_Shift_Del	DEL	C	C	-																															ctggtcataggattcagtgtCctccaatcccacatagcgaa																										TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:7325965delC	ENST00000361972.4	-	6	763	c.673delG	c.(673-675)acfs	p.D225fs	SFMBT2_ENST00000397167.1_Frame_Shift_Del_p.D225fs	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	225					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GATTCAGTGTCCTCCAATCCC	0.428													17	159	---	---	---	---					-	7325965	C	-	7325965	7	5	454	1	0	1	0	1	0	0	0	0	14245	855	30	0	2075	0	SFMBT2	10	7325965	Frame_Shift_Del	DEL	C	TCGA-MZ-A5BI-01A-31D-A34J-08		7325965	128208782	27	88590											
ARMC4	55130	broad.mit.edu	37	chr10	28283901	28283901	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaacttgtgttccattcAagtggttccacaaaaacaaa	15	10	6	10	0	1	0	1	0	0	0	3	0	3	0	3	1	2	2	3	1	5	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:28283901A>T	ENST00000305242.5	-	2	263	c.171T>A	c.(169-171)ctT>ctA	p.L57L		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	57							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGTTCCATTCAAGTGGTTCCA	0.373													4	64					0	0	0	0	T	28283901	A	T	28283901	2	4	454	1	0	0	0	0	0	0	0	1	957	117	5	5		5	ARMC4	10	28283901	Silent	SNP	A	TCGA-MZ-A5BI-01A-31D-A34J-08	20957936	28283901	107250846	28	88591											
HPS6	79803	broad.mit.edu	37	chr10	103826135	103826135	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acggtggtacgcgggctgtgGgcaccctgcaggaggcacct	6	6	17	12	3	0	0	0	0	0	0	0	1	0	1	2	6	2	5	2	6	1	1			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:103826135G>C	ENST00000299238.5	+	1	989	c.904G>C	c.(904-906)Ggc>Cgc	p.G302R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	302						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCGGGCTGTGGGCACCCTGCA	0.647									Hermansky-Pudlak syndrome				17	63					0	0	0	0	C	103826135	G	C	103826135	3	2	454	1	0	0	0	0	1	0	0	0	7393	1232	43	4	906	4	HPS6	10	103826135	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	75542234	103826135	31708612	29	88592											
HPS6	79803	broad.mit.edu	37	chr10	103826228	103826228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgtgctgggctccacattgGaactgctggacatgggcagt	7	10	15	9	0	0	0	0	0	0	0	1	2	1	2	1	4	3	4	1	4	1	1			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:103826228G>C	ENST00000299238.5	+	1	1082	c.997G>C	c.(997-999)Gaa>Caa	p.E333Q		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	333						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTCCACATTGGAACTGCTGGA	0.627									Hermansky-Pudlak syndrome				16	86					0	0	0	0	C	103826228	G	C	103826228	3	2	454	1	0	0	0	0	1	0	0	0	7393	1175	41	2	999	2	HPS6	10	103826228	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	93	103826228	31708519	30	88593											
INPP5A	3632	broad.mit.edu	37	chr10	134594354	134594354	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgtttcccctttccagtCggagagcgaggagaaggttg	7	11	14	9	2	1	2	0	0	1	2	4	5	3	2	3	3	1	2	3	3	1	3			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:134594354C>T	ENST00000368594.3	+	14	1368	c.1089_splice	c.e14-1	p.S364_splice		NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	364					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCTTTCCAGTCGGAGAGCGAG	0.597													18	149					0	0	0	0	T	134594354	C	T	134594354	5	4	454	1	0	0	0	0	0	0	1	0	7807	898	31	1	1145	1	INPP5A	10	134594354	Splice_Site	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	30768126	134594354	940393	31	88594											
SAA4	6291	broad.mit.edu	37	chr11	18254043	18254043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattttggtgattggatatCattatgtcccaataggctct	10	16	9	6	0	2	1	1	1	1	0	3	3	3	2	1	3	0	1	1	3	5	6			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:18254043C>T	ENST00000278222.4	-	3	309	c.129G>A	c.(127-129)atG>atA	p.M43I	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GATTGGATATCATTATGTCCC	0.438													62	139					0	0	0	0	T	18254043	C	T	18254043	3	4	454	1	0	0	0	0	1	0	0	0	13885	826	29	2	271	2	SAA4	11	18254043	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08		18254043	116752473	32	88595											
C11orf63	79864	broad.mit.edu	37	chr11	122817235	122817235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttctgacagccagaCggttagagcttctccagatt	8	14	8	11	1	4	4	0	1	4	3	5	4	4	4	2	1	2	2	2	1	1	6	rs143699753	by1000genomes	TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:122817235C>T	ENST00000227349.2	+	6	1961	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	C11orf63_ENST00000531316.1_Missense_Mutation_p.T555M	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	555										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GACAGCCAGACGGTTAGAGCT	0.428													22	66					0	0	0	0	T	122817235	C	T	122817235	3	4	454	1	0	0	0	0	1	0	0	0	1665	536	19	1	1746	1	C11orf63	11	122817235	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	104563192	122817235	12189281	33	88596											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452471	100452471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgcacttctaagtaaaaTtccaatacaaatggatgtct	14	14	5	8	0	3	0	0	0	3	0	4	1	4	1	1	1	2	2	1	1	6	6			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr12:100452471T>A	ENST00000279907.7	-	14	2796	c.2584A>T	c.(2584-2586)Att>Ttt	p.I862F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I512F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	862										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTAAGTAAAATTCCAATACAA	0.428													14	83					0	0	0	0	A	100452471	T	A	100452471	3	1	454	1	0	0	0	0	1	0	0	0	17065	1493	52	5	1842	5	UHRF1BP1L	12	100452471	Missense_Mutation	SNP	T	TCGA-MZ-A5BI-01A-31D-A34J-08		100452471	33399424	34	88597											
TEP1	7011	broad.mit.edu	37	chr14	20852060	20852060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccccatcaggagcctgcagGgctgacacaagagatgcctg	10	5	13	13	0	1	2	1	1	0	1	1	4	1	3	4	2	3	2	4	2	1	0			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr14:20852060G>A	ENST00000262715.5	-	25	3592	c.3552C>T	c.(3550-3552)gcC>gcT	p.A1184A	TEP1_ENST00000556935.1_Silent_p.A1076A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1184	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGCCTGCAGGGCTGACACAA	0.557													5	14					0	0	0	0	A	20852060	G	A	20852060	2	1	454	1	0	0	0	0	0	0	0	1	15853	1219	43	4		4	TEP1	14	20852060	Silent	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08		20852060	86497480	35	88598											
NFKBIA	4792	broad.mit.edu	37	chr14	35873703	35873703	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctcgaggcggatctcctGcagctccttgaccatctgct	5	10	11	15	3	2	1	0	1	2	0	5	3	3	2	3	3	3	4	3	3	0	1			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr14:35873703G>A	ENST00000216797.5	-	1	249	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Nonsense_Mutation_p.Q50*	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	50					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CGGATCTCCTGCAGCTCCTTG	0.682													4	13					0	0	0	0	A	35873703	G	A	35873703	4	1	454	1	0	0	0	0	0	1	0	0	10447	1328	46	4	829	4	NFKBIA	14	35873703	Nonsense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	15021643	35873703	71475837	36	88599											
ALDH1A3	220	broad.mit.edu	37	chr15	101434212	101434212	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcacccgccctctgctgTgggaacaccatggtcctgaa	7	8	11	15	1	1	1	0	1	1	0	2	2	2	2	4	3	2	2	4	3	2	0			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr15:101434212T>G	ENST00000329841.5	+	6	1123	c.591T>G	c.(589-591)tgT>tgG	p.C197W	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	197					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CCCTCTGCTGTGGGAACACCA	0.567													40	99					0	0	0	0	G	101434212	T	G	101434212	3	3	454	1	0	0	0	0	1	0	0	0	492	1702	59	5	613	5	ALDH1A3	15	101434212	Missense_Mutation	SNP	T	TCGA-MZ-A5BI-01A-31D-A34J-08		101434212	1097180	37	88600											
ZNF646	9726	broad.mit.edu	37	chr16	31092135	31092135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagtgtccacaggagtcCttgccacgctggtgactgcc	7	8	13	13	1	0	1	0	1	0	0	2	3	2	3	4	3	2	1	4	3	0	1			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr16:31092135C>T	ENST00000394979.2	+	1	4913	c.4490C>T	c.(4489-4491)cCt>cTt	p.P1497L	ZNF646_ENST00000300850.5_Missense_Mutation_p.P1497L			O15015	ZN646_HUMAN	zinc finger protein 646	1497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CACAGGAGTCCTTGCCACGCT	0.587													14	41					0	0	0	0	T	31092135	C	T	31092135	3	4	454	1	0	0	0	0	1	0	0	0	18157	681	24	4	4492	4	ZNF646	16	31092135	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08		31092135	59262618	38	88601											
ZNF521	25925	broad.mit.edu	37	chr18	22805127	22805127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagctttctttttcaCgatggcactttctccaggtc	6	15	8	12	1	4	0	2	0	2	0	6	2	4	0	1	2	2	3	1	2	0	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr18:22805127C>T	ENST00000361524.3	-	4	2903	c.2755G>A	c.(2755-2757)Gtg>Atg	p.V919M	ZNF521_ENST00000538137.2_Missense_Mutation_p.V919M|ZNF521_ENST00000584787.1_Missense_Mutation_p.V699M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	919					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTTTTTCACGATGGCACTT	0.498			T	PAX5	ALL								8	111					0	0	0	0	T	22805127	C	T	22805127	3	4	454	1	0	0	0	0	1	0	0	0	18060	536	19	1	1200	1	ZNF521	18	22805127	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08		22805127	55272121	39	88602											
ZNF562	54811	broad.mit.edu	37	chr19	9764389	9764389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaatttggaaagttcttGtccaatagaggcttccttgt	11	16	8	6	0	1	1	0	0	1	1	3	2	3	2	2	2	0	2	2	2	5	7			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:9764389G>C	ENST00000448622.1	-	6	679	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E	ZNF562_ENST00000453372.2_Missense_Mutation_p.Q173E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q172E|ZNF562_ENST00000587392.1_3'UTR|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q101E|ZNF562_ENST00000541032.1_Missense_Mutation_p.Q136E|ZNF562_ENST00000453792.2_Missense_Mutation_p.Q104E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q57E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						GAAAGTTCTTGTCCAATAGAG	0.418													55	161					0	0	0	0	C	9764389	G	C	9764389	3	2	454	1	0	0	0	0	1	0	0	0	18088	1386	48	4	767	4	ZNF562	19	9764389	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08		9764389	49364594	40	88603											
LPHN1	22859	broad.mit.edu	37	chr19	14268118	14268118	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctcagccaggaagaggTtgatgcacaggttcttgtgg	9	9	15	8	0	2	2	1	1	1	1	2	3	2	3	1	4	3	5	1	4	1	3			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:14268118T>C	ENST00000340736.6	-	15	3002	c.2705A>G	c.(2704-2706)aAc>aGc	p.N902S	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N897S	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	902					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGAAGAGGTTGATGCACAG	0.617													16	173					0	0	0	0	C	14268118	T	C	14268118	3	2	454	1	0	0	0	0	1	0	0	0	8979	1725	60	5	1759	5	LPHN1	19	14268118	Missense_Mutation	SNP	T	TCGA-MZ-A5BI-01A-31D-A34J-08	4503729	14268118	44860865	41	88604											
PTGIR	5739	broad.mit.edu	37	chr19	47127419	47127419	+	Frame_Shift_Del	DEL	G	G	-																															cacaccggccacgaacatcaGggtgctggtggccggcccca																										TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:47127419delG	ENST00000291294.2	-	2	197	c.64delC	c.(64-66)tgfs	p.L22fs	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Frame_Shift_Del_p.L22fs	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	22					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	ACGAACATCAGGGTGCTGGTG	0.721													2	4	---	---	---	---					-	47127419	G	-	47127419	7	5	454	1	0	1	0	1	0	0	0	0	12831	991	35	0	1104	0	PTGIR	19	47127419	Frame_Shift_Del	DEL	G	TCGA-MZ-A5BI-01A-31D-A34J-08	32859301	47127419	12001564	42	88605											
CACNG7	59284	broad.mit.edu	37	chr19	54416165	54416165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcctggtaggcatcgCggtcagcactgactactggc	6	9	12	14	2	1	1	1	1	0	0	3	1	2	1	2	4	3	4	2	4	2	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:54416165C>T	ENST00000391767.1	+	2	292	c.80C>T	c.(79-81)gCg>gTg	p.A27V	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.A27V|CACNG7_ENST00000222212.2_Missense_Mutation_p.A27V			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	27					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GTAGGCATCGCGGTCAGCACT	0.647													15	44					0	0	0	0	T	54416165	C	T	54416165	3	4	454	1	0	0	0	0	1	0	0	0	2587	768	27	1	82	1	CACNG7	19	54416165	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	7288746	54416165	4712818	43	88606											
SIRPA	140885	broad.mit.edu	37	chr20	1918060	1918060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacaaccacacggagtatgCcagcattcagaccagcccgc	13	4	8	16	2	1	1	1	0	0	1	1	2	1	2	4	1	5	2	4	1	3	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:1918060C>T	ENST00000358771.4	+	8	1513	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	SIRPA_ENST00000356025.3_Missense_Mutation_p.A454V|SIRPA_ENST00000400068.3_Missense_Mutation_p.A458V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	454					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGAGTATGCCAGCATTCAG	0.617													5	163					0	0	0	0	T	1918060	C	T	1918060	3	4	454	1	0	0	0	0	1	0	0	0	14420	739	26	4	1391	4	SIRPA	20	1918060	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08		1918060	61107460	44	88607											
SSTR4	6754	broad.mit.edu	37	chr20	23016391	23016391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctacctgctcaacctggccGtagccgacgagctcttcatg	7	10	9	15	3	4	0	2	0	2	0	4	2	4	0	4	1	5	3	4	1	3	3			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:23016391G>A	ENST00000255008.3	+	1	335	c.271G>A	c.(271-273)Gta>Ata	p.V91I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	91					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCTGGCCGTAGCCGACGA	0.657													11	280					0	0	0	0	A	23016391	G	A	23016391	3	1	454	1	0	0	0	0	1	0	0	0	15290	1145	40	1	273	1	SSTR4	20	23016391	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	21098331	23016391	40009129	45	88608											
POFUT1	23509	broad.mit.edu	37	chr20	30797941	30797941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagctgctaaaccgtacCttggctgtccctccttggat	8	11	9	13	1	0	0	0	0	0	0	2	1	2	1	4	2	4	5	4	2	4	4			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:30797941C>T	ENST00000375749.3	+	2	254	c.192C>T	c.(190-192)acC>acT	p.T64T	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Silent_p.T64T|POFUT1_ENST00000486717.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	64					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TAAACCGTACCTTGGCTGTCC	0.547													84	115					0	0	0	0	T	30797941	C	T	30797941	2	4	454	1	0	0	0	0	0	0	0	1	12255	668	24	4		4	POFUT1	20	30797941	Silent	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	7781550	30797941	32227579	46	88609											
PCK1	5105	broad.mit.edu	37	chr20	56140433	56140433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcatgcatgacccctttgCcatgcggcccttctttggct	5	13	8	15	1	2	1	1	1	1	0	2	1	2	1	4	2	3	2	4	2	0	3			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:56140433C>T	ENST00000319441.4	+	10	1606	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	PCK1_ENST00000543666.1_Missense_Mutation_p.A164V|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	481					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GACCCCTTTGCCATGCGGCCC	0.507													4	122					0	0	0	0	T	56140433	C	T	56140433	3	4	454	1	0	0	0	0	1	0	0	0	11652	739	26	4	1476	4	PCK1	20	56140433	Missense_Mutation	SNP	C	TCGA-MZ-A5BI-01A-31D-A34J-08	25342492	56140433	6885087	47	88610											
BIRC7	79444	broad.mit.edu	37	chr20	61867696	61867696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggggcctgccttccccgGcatgggctctgaggagttgc	4	8	16	13	1	1	1	0	1	1	0	2	2	2	2	4	5	2	3	4	5	0	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:61867696G>A	ENST00000217169.3	+	1	462	c.248G>A	c.(247-249)gGc>gAc	p.G83D	BIRC7_ENST00000342412.6_Missense_Mutation_p.G83D	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	83					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCCTTCCCCGGCATGGGCTCT	0.677													4	108					0	0	0	0	A	61867696	G	A	61867696	3	1	454	1	0	0	0	0	1	0	0	0	1444	1203	42	4	250	4	BIRC7	20	61867696	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08	5727263	61867696	1157824	48	88611											
SMTN	6525	broad.mit.edu	37	chr22	31489490	31489490	+	Frame_Shift_Del	DEL	G	G	-																															gcagcccttgaggagcagttGggccgggcactggaggagct																										TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr22:31489490delG	ENST00000404574.1	+	1	147	c.57delG	c.(55-57)ttfs	p.L19fs	SMTN_ENST00000358743.1_Intron|SMTN_ENST00000347557.2_Intron|SMTN_ENST00000333137.7_Intron			P53814	SMTN_HUMAN	smoothelin	0					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGGAGCAGTTGGGCCGGGCAC	0.711													2	4	---	---	---	---					-	31489490	G	-	31489490	7	5	454	1	0	1	0	1	0	0	0	0	14902	1363	47	0		0	SMTN	22	31489490	Frame_Shift_Del	DEL	G	TCGA-MZ-A5BI-01A-31D-A34J-08		31489490	19815076	49	88612											
ABCB7	22	broad.mit.edu	37	chrX	74376044	74376044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaatcgcggagtgccGgcgcttttcgaaagcagccg	9	7	14	11	6	1	1	1	0	0	1	3	4	1	2	2	2	3	2	2	2	2	2			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chrX:74376044G>A	ENST00000253577.3	-	1	88	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ABCB7_ENST00000339447.4_Missense_Mutation_p.R22W|ABCB7_ENST00000373394.3_Missense_Mutation_p.R22W	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	22					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCGGAGTGCCGGCGCTTTTCG	0.617											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	0	0	A	74376044	G	A	74376044	3	1	454	1	0	0	0	0	1	0	0	0	46	1115	39	1	2261	1	ABCB7	23	74376044	Missense_Mutation	SNP	G	TCGA-MZ-A5BI-01A-31D-A34J-08		74376044	80894516	50	88613											
PIK3CD	5293	broad.mit.edu	37	chr1	9775731	9775731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacggcgtctgtgtgacGtgcagcccttcctgcccgtc	5	9	12	15	4	1	1	0	1	1	0	3	1	2	1	3	1	5	2	3	1	1	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:9775731G>A	ENST00000536656.1	+	4	482	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	PIK3CD_ENST00000377346.4_Missense_Mutation_p.V92M|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V92M			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	92					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGTGTGACGTGCAGCCCTT	0.617													13	56					0	0	0	0	A	9775731	G	A	9775731	3	1	455	1	0	0	0	0	1	0	0	0	11987	1145	40	1	280	1	PIK3CD	1	9775731	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08		9775731	239474890	1	88614											
FCN3	8547	broad.mit.edu	37	chr1	27695886	27695886	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaggcaccgtggacaatCactgcacagttgctgttgct	9	9	10	13	1	1	0	1	0	0	0	1	1	1	1	2	2	3	6	2	2	1	2			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:27695886C>G	ENST00000270879.4	-	8	746	c.741G>C	c.(739-741)gtG>gtC	p.V247V	FCN3_ENST00000354982.2_Silent_p.V236V	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	247	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGACAATCACTGCACAGT	0.542													16	69					0	0	0	0	G	27695886	C	G	27695886	2	3	455	1	0	0	0	0	0	0	0	1	5838	813	29	2		2	FCN3	1	27695886	Silent	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	17920155	27695886	221554735	2	88615											
MACF1	23499	broad.mit.edu	37	chr1	39802098	39802098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactgttcaaaggagtgTctcaaaaagagaatacaggg	18	7	11	5	0	2	2	2	0	1	2	3	4	2	3	0	2	2	1	0	2	6	2			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:39802098T>C	ENST00000564288.1	+	37	10615	c.9838T>C	c.(9838-9840)Tct>Cct	p.S3280P	MACF1_ENST00000289893.4_Missense_Mutation_p.S1720P|MACF1_ENST00000567887.1_Missense_Mutation_p.S3317P|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S3285P|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3285					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAAGGAGTGTCTCAAAAAGA	0.448													36	95					0	0	0	0	C	39802098	T	C	39802098	3	2	455	1	0	0	0	0	1	0	0	0	9209	1667	58	5	9929	5	MACF1	1	39802098	Missense_Mutation	SNP	T	TCGA-MZ-A6I9-01A-11D-A31L-08	12106212	39802098	209448523	3	88616											
SLFNL1	200172	broad.mit.edu	37	chr1	41483692	41483692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcacacgccgctgggcCggccctggcagctctgcagc	5	4	15	17	4	1	0	0	0	1	0	1	1	1	1	3	4	4	5	3	4	0	0			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:41483692C>T	ENST00000359345.1	-	2	3148	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SLFNL1_ENST00000302946.8_Missense_Mutation_p.R191Q|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R191Q|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000439569.2_Missense_Mutation_p.R191Q|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R191Q	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	191							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GCCGCTGGGCCGGCCCTGGCA	0.682													5	12					0	0	0	0	T	41483692	C	T	41483692	3	4	455	1	0	0	0	0	1	0	0	0	14826	652	23	1	663	1	SLFNL1	1	41483692	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	1681594	41483692	207766929	4	88617											
RFX5	5993	broad.mit.edu	37	chr1	151315105	151315105	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccacctgacttttttcGagggcgcccccgtttccttt	4	15	7	15	3	0	1	0	1	0	0	3	2	2	1	5	1	0	1	5	1	0	6	rs79106593		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:151315105G>T	ENST00000290524.4	-	11	1586	c.1408C>A	c.(1408-1410)Cga>Aga	p.R470R	RFX5_ENST00000368870.2_Silent_p.R470R|RFX5_ENST00000452671.2_Silent_p.R470R|RFX5_ENST00000452513.2_Silent_p.R430R	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	470						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTTTTTTCGAGGGCGCCCC	0.537													92	332					6.7531e-64	7.80827e-64	1	0	T	151315105	G	T	151315105	2	4	455	1	0	0	0	0	0	0	0	1	13348	1066	37	3		3	RFX5	1	151315105	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	109831413	151315105	97935516	5	88618											
ASTN1	460	broad.mit.edu	37	chr1	176833488	176833488	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctcacacgtcttccTgaggtcccggctgagctccg	4	10	10	17	3	2	2	1	2	1	0	6	2	6	2	4	2	2	3	4	2	0	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:176833488T>G	ENST00000367654.2	-	23	3854	c.3841A>C	c.(3841-3843)Agg>Cgg	p.R1281R	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.R1273R			O14525	ASTN1_HUMAN	astrotactin 1	1281					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACGTCTTCCTGAGGTCCCGG	0.577													5	108					0	0	0	0	G	176833488	T	G	176833488	2	3	455	1	0	0	0	0	0	0	0	1	1068	1579	55	5		5	ASTN1	1	176833488	Silent	SNP	T	TCGA-MZ-A6I9-01A-11D-A31L-08	25518383	176833488	72417133	6	88619											
ZNF648	127665	broad.mit.edu	37	chr1	182027001	182027001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacaggccaccgggtcagCggtgccctctttttcggcct	4	10	13	14	3	2	0	1	0	1	0	3	1	2	1	4	5	2	0	4	5	0	2			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:182027001C>T	ENST00000339948.3	-	2	352	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ACCGGGTCAGCGGTGCCCTCT	0.552													19	61					0	0	0	0	T	182027001	C	T	182027001	3	4	455	1	0	0	0	0	1	0	0	0	18158	768	27	1	1565	1	ZNF648	1	182027001	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	5193513	182027001	67223620	7	88620											
PTGS2	5743	broad.mit.edu	37	chr1	186645077	186645077	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaaactgggtaattcCatgttccagcaatatagagt	14	12	7	8	0	1	1	1	0	0	1	3	1	3	1	2	1	3	3	2	1	6	6			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:186645077C>A	ENST00000367468.5	-	8	1346	c.1210G>T	c.(1210-1212)Gga>Tga	p.G404*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	404					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TGGGTAATTCCATGTTCCAGC	0.373													4	66					0.00909568	0.00948	1	0	A	186645077	C	A	186645077	4	1	455	1	0	0	0	0	0	1	0	0	12836	603	21	4	616	4	PTGS2	1	186645077	Nonsense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	4618076	186645077	62605544	8	88621											
PUS10	150962	broad.mit.edu	37	chr2	61180204	61180204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattaaggcactgtaggtCtttgtcttttcttcttcacc	8	17	6	10	0	5	0	1	0	4	0	5	0	5	0	1	2	0	2	1	2	3	7			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:61180204C>T	ENST00000316752.6	-	15	1497	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	PUS10_ENST00000407787.1_Silent_p.K412K	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	412					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CACTGTAGGTCTTTGTCTTTT	0.299													15	123					0	0	0	0	T	61180204	C	T	61180204	2	4	455	1	0	0	0	0	0	0	0	1	12913	912	32	2		2	PUS10	2	61180204	Silent	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08		61180204	182019169	9	88622											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002469	69002469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaagcagaggtccatcGtgaagaactggcagcagagg	14	5	15	7	1	0	6	0	2	0	4	2	6	1	6	1	3	3	3	1	3	4	0			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:69002469G>A	ENST00000295381.3	+	2	597	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	ARHGAP25_ENST00000544262.1_Missense_Mutation_p.V34M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.V53M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V60M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V60M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V53M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V53M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	60	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GAGGTCCATCGTGAAGAACTG	0.582													6	205					0	0	0	0	A	69002469	G	A	69002469	3	1	455	1	0	0	0	0	1	0	0	0	876	1145	40	1	224	1	ARHGAP25	2	69002469	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	7822265	69002469	174196904	10	88623											
KCNJ3	3760	broad.mit.edu	37	chr2	155711734	155711734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtggctgatttgccacCaaagcttcaaaagatggctg	10	11	11	9	0	2	2	1	1	1	1	2	2	2	2	2	2	2	3	2	2	3	2			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:155711734C>A	ENST00000295101.2	+	3	1892	c.1415C>A	c.(1414-1416)cCa>cAa	p.P472Q		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	472					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GATTTGCCACCAAAGCTTCAA	0.443													3	29					1	1	1	0	A	155711734	C	A	155711734	3	1	455	1	0	0	0	0	1	0	0	0	8105	594	21	4	1425	4	KCNJ3	2	155711734	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	86709265	155711734	87487639	11	88624											
TTN	7273	broad.mit.edu	37	chr2	179571293	179571293	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgttaaatgccacgcatcGgtataacccagaatcagttt	12	12	7	10	3	1	1	1	0	0	1	3	1	1	1	2	1	2	4	2	1	5	5			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:179571293G>A	ENST00000589042.1	-	102	29532	c.29308C>T	c.(29308-29310)Cga>Tga	p.R9770*	TTN_ENST00000591111.1_Nonsense_Mutation_p.R9453*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8526*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9453	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8526R(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)			GCCACGCATCGGTATAACCCA	0.418													7	111					0	0	0	0	A	179571293	G	A	179571293	4	1	455	1	0	0	0	0	0	1	0	0	16831	1124	39	1	75265	1	TTN	2	179571293	Nonsense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	23859559	179571293	63628080	12	88625											
SEC22A	26984	broad.mit.edu	37	chr3	122928127	122928127	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactgccactttctgcttcTactgattatgaacaaagcac	11	12	7	11	0	2	2	0	2	2	0	2	3	2	3	1	1	5	2	1	1	4	4			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr3:122928127T>C	ENST00000309934.4	+	1	959	c.63T>C	c.(61-63)tcT>tcC	p.S21S	SEC22A_ENST00000481965.2_Silent_p.S21S|SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Silent_p.S21S	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	21	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TTTCTGCTTCTACTGATTATG	0.378													3	75					0	0	0	0	C	122928127	T	C	122928127	2	2	455	1	0	0	0	0	0	0	0	1	14075	1509	53	5		5	SEC22A	3	122928127	Silent	SNP	T	TCGA-MZ-A6I9-01A-11D-A31L-08		122928127	75094303	13	88626											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	55					0	0	0	0	A	178936091	G	A	178936091	3	1	455	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	56007964	178936091	19086339	14	88627											
LRCH3	84859	broad.mit.edu	37	chr3	197559098	197559098	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattttcagatctgcctcttCgagtagcagagattactaaa	13	13	7	8	1	3	2	1	0	2	2	4	4	3	2	1	0	3	2	1	0	5	6			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr3:197559098C>T	ENST00000438796.2	+	8	1056	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R338*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.R212*|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.R338*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R338*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	338						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCTGCCTCTTCGAGTAGCAGA	0.408													4	76					0	0	0	0	T	197559098	C	T	197559098	4	4	455	1	0	0	0	0	0	1	0	0	8998	876	31	1	1042	1	LRCH3	3	197559098	Nonsense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	18623007	197559098	463332	15	88628											
EGFLAM	133584	broad.mit.edu	37	chr5	38427145	38427145	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctcagttcagagagtcTctgagatcttacgctgcaac	10	12	8	11	1	4	2	2	1	2	2	6	4	5	2	1	0	3	3	1	0	2	3			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr5:38427145T>C	ENST00000322350.5	+	14	2191	c.1845T>C	c.(1843-1845)tcT>tcC	p.S615S	EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.S381S|EGFLAM_ENST00000354891.3_Silent_p.S615S|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	615	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCAGAGAGTCTCTGAGATCTT	0.493													4	121					0	0	0	0	C	38427145	T	C	38427145	2	2	455	1	0	0	0	0	0	0	0	1	5002	1538	54	5		5	EGFLAM	5	38427145	Silent	SNP	T	TCGA-MZ-A6I9-01A-11D-A31L-08		38427145	142488115	16	88629											
SEPP1	6414	broad.mit.edu	37	chr5	42801322	42801322	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcactgctgccaaggtgctGatgtccatgattgtgatgat	8	13	11	9	0	1	4	1	4	0	0	2	4	2	4	2	1	3	2	2	1	1	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr5:42801322G>A	ENST00000514985.1	-	5	902	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Nonsense_Mutation_p.Q216*|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000507920.1_Silent_p.I105I|SEPP1_ENST00000506577.1_Nonsense_Mutation_p.Q216*	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	216					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CCAAGGTGCTGATGTCCATGA	0.463													20	74					0	0	0	0	A	42801322	G	A	42801322	4	1	455	1	0	0	0	0	0	1	0	0	14144	1299	45	2	503	2	SEPP1	5	42801322	Nonsense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	4374177	42801322	138113938	17	88630											
HAND1	9421	broad.mit.edu	37	chr5	153855462	153855462	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggaggaaaaccttcGtgctgctgctgccaaaggac	11	6	14	10	1	0	0	0	0	0	0	1	3	0	3	2	4	5	4	2	4	3	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr5:153855462G>A	ENST00000231121.2	-	2	807	c.552C>T	c.(550-552)caC>caT	p.H184H		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	184					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAAAACCTTCGTGCTGCTGCT	0.572													6	54					0	0	0	0	A	153855462	G	A	153855462	2	1	455	1	0	0	0	0	0	0	0	1	6999	1136	40	1		1	HAND1	5	153855462	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	111054140	153855462	27059798	18	88631											
MAD1L1	8379	broad.mit.edu	37	chr7	2188861	2188861	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaccacgaatctggaaagGtcttctggagtcctgcagga	11	9	11	10	1	4	0	1	0	3	0	5	4	5	3	2	4	2	1	2	4	3	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr7:2188861G>A	ENST00000406869.1	-	11	1556	c.999C>T	c.(997-999)gaC>gaT	p.D333D	MAD1L1_ENST00000265854.7_Silent_p.D333D|MAD1L1_ENST00000402746.1_Silent_p.D241D|MAD1L1_ENST00000399654.2_Silent_p.D333D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	333					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			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)		ATCTGGAAAGGTCTTCTGGAG	0.547													6	28					0	0	0	0	A	2188861	G	A	2188861	2	1	455	1	0	0	0	0	0	0	0	1	9212	1252	44	4		4	MAD1L1	7	2188861	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08		2188861	156949802	19	88632											
GHRHR	2692	broad.mit.edu	37	chr7	31014608	31014608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggacctggacgacaccTccccctactggtggatcatc	7	8	11	15	1	1	0	1	0	0	0	3	4	2	3	4	4	1	1	4	4	1	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr7:31014608T>C	ENST00000409904.3	+	6	901	c.643T>C	c.(643-645)Tcc>Ccc	p.S215P	GHRHR_ENST00000409316.1_Missense_Mutation_p.L45P|GHRHR_ENST00000326139.2_Missense_Mutation_p.S279P|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	279					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GGACGACACCTCCCCCTACTG	0.582											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	109					0	0	0	0	C	31014608	T	C	31014608	3	2	455	1	0	0	0	0	1	0	0	0	6424	1551	54	5	869	5	GHRHR	7	31014608	Missense_Mutation	SNP	T	TCGA-MZ-A6I9-01A-11D-A31L-08	28825747	31014608	128124055	20	88633											
PNPLA8	50640	broad.mit.edu	37	chr7	108154676	108154676	+	Frame_Shift_Del	DEL	G	G	-																															tgcagagctttgggtcagttGttcttcttaatgcctgaact																										TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr7:108154676delG	ENST00000426128.2	-	3	1243	c.1118delC	c.(1117-1119)aafs	p.T374fs	PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.T274fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000422087.1_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.T374fs	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	374					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			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TGGGTCAGTTGTTCTTCTTAA	0.368													77	278	---	---	---	---					-	108154676	G	-	108154676	7	5	455	1	0	1	0	1	0	0	0	0	12243	1377	48	0	1262	0	PNPLA8	7	108154676	Frame_Shift_Del	DEL	G	TCGA-MZ-A6I9-01A-11D-A31L-08	77140068	108154676	50983987	21	88634											
TMEM176A	55365	broad.mit.edu	37	chr7	150498790	150498790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaggccaggggcagcaGccggctgctggtggcctcgt	5	5	16	15	2	0	0	0	0	0	0	1	0	0	0	4	6	3	4	4	6	0	0			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr7:150498790G>T	ENST00000484928.1	+	2	733	c.152G>T	c.(151-153)aGc>aTc	p.S51I	TMEM176A_ENST00000004103.3_Missense_Mutation_p.S51I|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	51						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGCAGCAGCCGGCTGCTG	0.706													4	11					1	1	1	0	T	150498790	G	T	150498790	3	4	455	1	0	0	0	0	1	0	0	0	16186	971	34	4	154	4	TMEM176A	7	150498790	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	42344114	150498790	8639873	22	88635											
ANK1	286	broad.mit.edu	37	chr8	41577280	41577280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggggtcaggtggtccaGggtgatgtcgtctatctctg	5	12	17	7	1	3	1	1	1	2	0	6	2	4	1	1	5	0	0	1	5	1	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr8:41577280G>A	ENST00000396942.1	-	10	1089	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	ANK1_ENST00000289734.7_Silent_p.L336L|ANK1_ENST00000396945.1_Silent_p.L336L|ANK1_ENST00000347528.4_Silent_p.L336L|ANK1_ENST00000379758.2_Silent_p.L336L|ANK1_ENST00000352337.4_Silent_p.L336L|ANK1_ENST00000265709.8_Silent_p.L369L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	336	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGTGGTCCAGGGTGATGTCG	0.602													12	192					0	0	0	0	A	41577280	G	A	41577280	2	1	455	1	0	0	0	0	0	0	0	1	620	991	35	4		4	ANK1	8	41577280	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08		41577280	104786742	23	88636											
SNX31	169166	broad.mit.edu	37	chr8	101608996	101608996	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacagctccagagcctgaTtctgggtagtcacaggtaca	12	8	11	10	0	2	3	1	1	1	2	3	3	3	3	2	2	4	3	2	2	3	3			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr8:101608996T>C	ENST00000311812.2	-	10	999	c.849A>G	c.(847-849)gaA>gaG	p.E283E	SNX31_ENST00000428383.2_Silent_p.E184E	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	283					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CAGAGCCTGATTCTGGGTAGT	0.542													11	161					0	0	0	0	C	101608996	T	C	101608996	2	2	455	1	0	0	0	0	0	0	0	1	14989	1490	52	5		5	SNX31	8	101608996	Silent	SNP	T	TCGA-MZ-A6I9-01A-11D-A31L-08	60031716	101608996	44755026	24	88637											
IFNA16	3449	broad.mit.edu	37	chr9	21217225	21217225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccaggctgtgagtctgaGgcagatcacagcccagagaa	12	6	12	11	0	2	4	1	2	1	2	2	5	2	4	2	2	2	2	2	2	2	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:21217225G>T	ENST00000380216.1	-	1	85	c.80C>A	c.(79-81)cCt>cAt	p.P27H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	27					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTGAGTCTGAGGCAGATCACA	0.488													4	125					0.00909568	0.00948	1	0	T	21217225	G	T	21217225	3	4	455	1	0	0	0	0	1	0	0	0	7588	1000	35	4	493	4	IFNA16	9	21217225	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08		21217225	119996206	25	88638											
PRUNE2	158471	broad.mit.edu	37	chr9	79465561	79465561	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcagcactggtaaacaCagaacccctggtggactgac	12	8	10	11	0	1	2	1	1	0	1	1	3	1	3	2	3	3	3	2	3	3	2			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:79465561C>G	ENST00000376718.3	-	3	285	c.162G>C	c.(160-162)ctG>ctC	p.L54L	PRUNE2_ENST00000376713.3_Silent_p.L54L|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	54					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGTAAACACAGAACCCCTG	0.393													10	65					0	0	0	0	G	79465561	C	G	79465561	2	3	455	1	0	0	0	0	0	0	0	1	12720	465	17	4		4	PRUNE2	9	79465561	Silent	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	58248336	79465561	61747870	26	88639											
SHC3	53358	broad.mit.edu	37	chr9	91657078	91657078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagtttcccttctggcGtgctgtagatgtccgaggac	5	12	13	11	3	1	1	0	0	1	1	3	3	3	2	2	2	2	4	2	2	1	3	rs112676570	byFrequency	TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:91657078G>A	ENST00000375835.4	-	10	1529	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	SHC3_ENST00000375830.1_De_novo_Start_InFrame	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	408	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCCTTCTGGCGTGCTGTAGAT	0.567													6	119					0	0	0	0	A	91657078	G	A	91657078	3	1	455	1	0	0	0	0	1	0	0	0	14360	1145	40	1	573	1	SHC3	9	91657078	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	12191517	91657078	49556353	27	88640											
SLC35D2	11046	broad.mit.edu	37	chr9	99126820	99126820	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacatatagtatcattaTggtggctgccatctgaagaa	13	11	10	7	0	2	2	1	1	1	1	2	3	2	3	1	3	1	2	1	3	6	4			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:99126820T>C	ENST00000253270.7	-	3	267	c.205A>G	c.(205-207)Ata>Gta	p.I69V	SLC35D2_ENST00000375257.1_Missense_Mutation_p.I69V|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375259.4_Missense_Mutation_p.I69V	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	69						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				AGTATCATTATGGTGGCTGCC	0.343													15	63					0	0	0	0	C	99126820	T	C	99126820	3	2	455	1	0	0	0	0	1	0	0	0	14670	1464	51	5	848	5	SLC35D2	9	99126820	Missense_Mutation	SNP	T	TCGA-MZ-A6I9-01A-11D-A31L-08	7469742	99126820	42086611	28	88641											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107531143	107531143	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaactattttcctcccataGataattttgctcatcgagct	10	17	4	10	1	1	1	1	0	0	1	4	2	3	1	2	0	3	2	2	0	4	8			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:107531143G>C	ENST00000374762.3	+	3	342		c.e3-1		NIPSNAP3B_ENST00000461177.1_Splice_Site	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCCTCCCATAGATAATTTTGC	0.358													6	27					0	0	0	0	C	107531143	G	C	107531143	5	2	455	1	0	0	0	0	0	0	1	0	10501	956	33	2	281	2	NIPSNAP3B	9	107531143	Splice_Site	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	8404323	107531143	33682288	29	88642											
CDC123	8872	broad.mit.edu	37	chr10	12277092	12277092	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgattcctggggctgagtttCgatgttttgtcaaggaaaac	9	14	12	6	1	1	2	1	2	0	0	3	4	2	3	1	3	1	3	1	3	3	4	rs139964730		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr10:12277092C>T	ENST00000281141.4	+	8	815	c.535C>T	c.(535-537)Cga>Tga	p.R179*	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Nonsense_Mutation_p.R179*	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	179					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GGCTGAGTTTCGATGTTTTGT	0.333													22	66					0	0	0	0	T	12277092	C	T	12277092	4	4	455	1	0	0	0	0	0	1	0	0	3084	876	31	1	565	1	CDC123	10	12277092	Nonsense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08		12277092	123257655	30	88643											
PRPF18	8559	broad.mit.edu	37	chr10	13653622	13653622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctttttcttcaggcgcttgGagagtccttagggaaaggcg	7	13	13	8	2	3	1	1	0	2	1	4	3	4	2	1	4	0	1	1	4	2	5			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr10:13653622G>C	ENST00000378572.3	+	6	678	c.518G>C	c.(517-519)gGa>gCa	p.G173A		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	173					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CAGGCGCTTGGAGAGTCCTTA	0.433													12	41					0	0	0	0	C	13653622	G	C	13653622	3	2	455	1	0	0	0	0	1	0	0	0	12643	1174	41	2	540	2	PRPF18	10	13653622	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	1376530	13653622	121881125	31	88644											
CUBN	8029	broad.mit.edu	37	chr10	16996429	16996429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgttctgtctggaaGggccagactgaaatctcaag	10	10	11	10	0	4	2	1	1	4	1	5	3	4	3	2	2	1	1	2	2	3	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr10:16996429G>C	ENST00000377833.4	-	32	4879	c.4814C>G	c.(4813-4815)cCt>cGt	p.P1605R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1605	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGTCTGGAAGGGCCAGACTG	0.542													29	144					0	0	0	0	C	16996429	G	C	16996429	3	2	455	1	0	0	0	0	1	0	0	0	4083	1000	35	4	6201	4	CUBN	10	16996429	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	3342807	16996429	118538318	32	88645											
MINPP1	9562	broad.mit.edu	37	chr10	89265179	89265179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgctcttcccggcccttttCagccgtgagaactacggccg	5	10	10	16	5	2	1	1	1	1	1	4	2	3	1	4	2	3	1	4	2	2	4			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr10:89265179C>T	ENST00000371996.4	+	1	548	c.507C>T	c.(505-507)ttC>ttT	p.F169F	MINPP1_ENST00000371994.4_Silent_p.F169F	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	169					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CGGCCCTTTTCAGCCGTGAGA	0.642											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	44					0	0	0	0	T	89265179	C	T	89265179	2	4	455	1	0	0	0	0	0	0	0	1	9657	825	29	2		2	MINPP1	10	89265179	Silent	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	72268750	89265179	46269568	33	88646											
RAG1	5896	broad.mit.edu	37	chr11	36596713	36596713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgggcctgtagttccagAaaaggcagtccgtttttcat	9	12	12	8	1	1	1	1	0	0	1	3	2	3	1	3	2	0	4	3	2	3	4			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr11:36596713A>G	ENST00000299440.5	+	2	1971	c.1859A>G	c.(1858-1860)gAa>gGa	p.E620G		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	620					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTAGTTCCAGAAAAGGCAGTC	0.453									Familial Hemophagocytic Lymphohistiocytosis				11	27					0	0	0	0	G	36596713	A	G	36596713	3	3	455	1	0	0	0	0	1	0	0	0	13085	246	9	5	1861	5	RAG1	11	36596713	Missense_Mutation	SNP	A	TCGA-MZ-A6I9-01A-11D-A31L-08		36596713	98409803	34	88647											
CCDC67	159989	broad.mit.edu	37	chr11	93104354	93104354	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattgaaaaactgaaatcaGctgtaaatgagatagcacta	18	11	7	5	0	1	3	1	3	0	1	1	4	1	3	0	0	3	3	0	0	8	5			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr11:93104354G>C	ENST00000298050.3	+	7	797	c.697G>C	c.(697-699)Gct>Cct	p.A233P		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	233										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ACTGAAATCAGCTGTAAATGA	0.368													7	16					0	0	0	0	C	93104354	G	C	93104354	3	2	455	1	0	0	0	0	1	0	0	0	2866	971	34	4	719	4	CCDC67	11	93104354	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	56507641	93104354	41902162	35	88648											
HSPA8	3312	broad.mit.edu	37	chr11	122928585	122928585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatggggttgcaaactttctCcagctctttctgttgatgtt	6	17	10	8	0	3	1	0	1	3	0	4	2	3	1	1	2	3	5	1	2	1	5			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr11:122928585C>G	ENST00000534624.1	-	9	2074	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	HSPA8_ENST00000534319.1_Missense_Mutation_p.E364Q|HSPA8_ENST00000533540.1_Missense_Mutation_p.E454Q|HSPA8_ENST00000532636.1_Missense_Mutation_p.E600Q|HSPA8_ENST00000227378.3_Missense_Mutation_p.E600Q|HSPA8_ENST00000526110.1_Missense_Mutation_p.E581Q|HSPA8_ENST00000453788.2_Intron	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	600					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAAACTTTCTCCAGCTCTTTC	0.468													4	101					0	0	0	0	G	122928585	C	G	122928585	3	3	455	1	0	0	0	0	1	0	0	0	7468	864	30	2	146	2	HSPA8	11	122928585	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	29824231	122928585	12077931	36	88649											
FOXM1	2305	broad.mit.edu	37	chr12	2973895	2973895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtcatgttccggcggagCtctggattcggtcgtttctg	4	14	14	9	4	3	0	1	0	2	0	6	2	4	2	1	5	1	3	1	5	0	3			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr12:2973895C>A	ENST00000342628.2	-	7	1157	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D	FOXM1_ENST00000361953.3_Missense_Mutation_p.E333D|FOXM1_ENST00000359843.3_Missense_Mutation_p.E348D	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	348					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TCCGGCGGAGCTCTGGATTCG	0.537													11	140					0.00136819	0.00148892	1	0	A	2973895	C	A	2973895	3	1	455	1	0	0	0	0	1	0	0	0	6065	796	28	4	1377	4	FOXM1	12	2973895	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08		2973895	130878000	37	88650											
CCDC92	80212	broad.mit.edu	37	chr12	124421612	124421612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggcgggcttcacacaGttctgtccgtccctgagtgc	5	9	13	14	3	2	1	1	1	1	0	4	1	4	1	2	3	1	3	2	3	0	2			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr12:124421612G>A	ENST00000545135.1	-	3	4234	c.938C>T	c.(937-939)aCt>aTt	p.T313I	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.T330I|CCDC92_ENST00000545891.1_Missense_Mutation_p.T313I			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	330										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCTTCACACAGTTCTGTCCGT	0.632													16	62					0	0	0	0	A	124421612	G	A	124421612	3	1	455	1	0	0	0	0	1	0	0	0	2898	1029	36	4	10	4	CCDC92	12	124421612	Missense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	121447717	124421612	9430283	38	88651											
MYH6	4624	broad.mit.edu	37	chr14	23871948	23871948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcatcaatggaggccacGgacacctctccctgagacac	11	6	10	14	1	3	1	2	1	1	1	4	5	3	3	3	3	0	0	3	3	1	0			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr14:23871948G>A	ENST00000405093.3	-	11	1030	c.960C>T	c.(958-960)tcC>tcT	p.S320S	MYH6_ENST00000356287.3_Silent_p.S320S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	320	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGAGGCCACGGACACCTCTC	0.652													14	43					0	0	0	0	A	23871948	G	A	23871948	2	1	455	1	0	0	0	0	0	0	0	1	10108	1103	39	1		1	MYH6	14	23871948	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08		23871948	83477592	39	88652											
OR4N4	283694	broad.mit.edu	37	chr15	22382599	22382599	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatcatcctccctggaaatTttctcattattttcaccata	10	18	2	11	0	3	0	3	0	1	0	6	1	5	1	3	1	0	0	3	1	4	7			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr15:22382599T>G	ENST00000328795.4	+	1	218	c.127T>G	c.(127-129)Ttt>Gtt	p.F43V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCCTGGAAATTTTCTCATTAT	0.438													5	101					0	0	0	0	G	22382599	T	G	22382599	3	3	455	1	0	0	0	0	1	0	0	0	11149	1841	64	5	129	5	OR4N4	15	22382599	Missense_Mutation	SNP	T	TCGA-MZ-A6I9-01A-11D-A31L-08		22382599	80148793	40	88653											
SMAD6	4091	broad.mit.edu	37	chr15	67073336	67073336	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcttgtcccgcagaCgccagcatgtctccggacgc	5	8	11	17	4	1	1	0	0	1	1	3	2	2	2	4	1	2	3	4	1	0	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr15:67073336C>T	ENST00000288840.5	+	4	1985	c.952_splice	c.e4-1	p.D318_splice	SMAD6_ENST00000338426.4_Splice_Site_p.D57_splice	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	318					BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GTCCCGCAGACGCCAGCATGT	0.687													4	6					0	0	0	0	T	67073336	C	T	67073336	5	4	455	1	0	0	0	0	0	0	1	0	14850	550	19	1	1006	1	SMAD6	15	67073336	Splice_Site	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	44690737	67073336	35458056	41	88654											
IDH3A	3419	broad.mit.edu	37	chr15	78454590	78454590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcagattgttgatggagtCgtgcagagtatcaagctcat	10	13	12	6	1	2	3	2	1	0	2	3	4	2	4	0	1	3	5	0	1	2	4			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr15:78454590C>T	ENST00000299518.2	+	6	575	c.492C>T	c.(490-492)gtC>gtT	p.V164V	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000441490.2_Silent_p.V55V|IDH3A_ENST00000558554.1_Silent_p.V129V	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	164					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	TTGATGGAGTCGTGCAGAGTA	0.552													10	50					0	0	0	0	T	78454590	C	T	78454590	2	4	455	1	0	0	0	0	0	0	0	1	7549	871	31	1		1	IDH3A	15	78454590	Silent	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	11381254	78454590	24076802	42	88655											
PKD1	5310	broad.mit.edu	37	chr16	2160311	2160311	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaagatgctgtcctgggcGgagcccacctcgttctcagc	7	8	12	14	3	1	1	1	0	1	1	4	3	2	2	3	2	3	2	3	2	1	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr16:2160311G>A	ENST00000262304.4	-	15	5065	c.4857C>T	c.(4855-4857)tcC>tcT	p.S1619S	PKD1_ENST00000423118.1_Silent_p.S1619S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1619	PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGTCCTGGGCGGAGCCCACCT	0.622													5	85					0	0	0	0	A	2160311	G	A	2160311	2	1	455	1	0	0	0	0	0	0	0	1	12035	1103	39	1		1	PKD1	16	2160311	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08		2160311	88194442	43	88656											
GGT6	124975	broad.mit.edu	37	chr17	4462969	4462969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgattctggagctgcCtcacagccagggagcagcca	8	7	12	14	0	2	1	1	1	1	0	2	3	2	3	4	2	6	2	4	2	0	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:4462969C>G	ENST00000301395.3	-	2	286	c.227G>C	c.(226-228)aGg>aCg	p.R76T	GGT6_ENST00000574154.1_Missense_Mutation_p.R76T|GGT6_ENST00000573591.1_5'UTR|GGT6_ENST00000381550.3_Missense_Mutation_p.R76T	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	76					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTGGAGCTGCCTCACAGCCAG	0.692													11	54					0	0	0	0	G	4462969	C	G	4462969	3	3	455	1	0	0	0	0	1	0	0	0	6414	681	24	4	1266	4	GGT6	17	4462969	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08		4462969	76732241	44	88657											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-																															gctctttctcctcctttcctTcctcctcctcctcacctact																										TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													8	86	---	---	---	---					-	34071996	TCC	-	34071994	7	5	455	1	0	1	0	1	0	0	0	0	6296	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-MZ-A6I9-01A-11D-A31L-08	29609025	34071994	47123216	45	88658											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281908	71281908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgatggtgccagcggcGccctcatcgccatggtaacc	6	8	14	13	3	1	1	1	1	0	0	2	1	1	1	4	4	3	1	4	4	1	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:71281908G>A	ENST00000335793.3	-	2	1126	c.732C>T	c.(730-732)ggC>ggT	p.G244G	CDC42EP4_ENST00000439510.2_Silent_p.G174G|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	244					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGCCAGCGGCGCCCTCATCGC	0.692													3	43					0	0	0	0	A	71281908	G	A	71281908	2	1	455	1	0	0	0	0	0	0	0	1	3107	1074	38	1		1	CDC42EP4	17	71281908	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	37209914	71281908	9913302	46	88659											
SRP68	6730	broad.mit.edu	37	chr17	74068416	74068416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcaggctatccccaaattCtttgtttgccttcgatccgg	7	14	7	13	2	2	0	1	0	1	0	5	1	4	0	4	2	1	2	4	2	2	5			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:74068416C>G	ENST00000307877.2	-	1	318	c.157G>C	c.(157-159)Gaa>Caa	p.E53Q	SRP68_ENST00000539137.1_Missense_Mutation_p.E53Q|SRP68_ENST00000355113.5_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	53					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCCCCAAATTCTTTGTTTGCC	0.587													6	568					0	0	0	0	G	74068416	C	G	74068416	3	3	455	1	0	0	0	0	1	0	0	0	15246	922	32	2	1790	2	SRP68	17	74068416	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	2786508	74068416	7126794	47	88660											
ZNF521	25925	broad.mit.edu	37	chr18	22807495	22807495	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgctttaggtagctgagGcggctaaacgacttgtcaca	9	11	13	8	2	1	1	1	1	0	0	1	2	1	1	0	4	3	4	0	4	4	5			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr18:22807495G>T	ENST00000361524.3	-	4	535	c.387C>A	c.(385-387)cgC>cgA	p.R129R	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.R129R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	129					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGTAGCTGAGGCGGCTAAACG	0.517			T	PAX5	ALL								5	128					0.184627	0.189756	1	0	T	22807495	G	T	22807495	2	4	455	1	0	0	0	0	0	0	0	1	18060	1190	42	4		4	ZNF521	18	22807495	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08		22807495	55269753	48	88661											
ZCCHC2	54877	broad.mit.edu	37	chr18	60241608	60241608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaataagggagtctgCaaattcaacccctgttggaa	12	11	9	9	0	3	0	1	0	2	0	3	2	3	2	2	2	3	3	2	2	5	4			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr18:60241608C>A	ENST00000269499.5	+	13	2712	c.2294C>A	c.(2293-2295)gCa>gAa	p.A765E	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A444E	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	765					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGGGAGTCTGCAAATTCAACC	0.478													4	34					2.56e-06	2.8703e-06	1	0	A	60241608	C	A	60241608	3	1	455	1	0	0	0	0	1	0	0	0	17682	710	25	4	2344	4	ZCCHC2	18	60241608	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	37434113	60241608	17835640	49	88662											
TCF3	6929	broad.mit.edu	37	chr19	1615558	1615558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggggccagagggagacaGtgaggttgggggaagagcgt	10	4	23	4	1	0	4	0	1	0	3	0	7	0	5	1	6	1	1	1	6	1	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:1615558G>A	ENST00000395423.3	-	14	1587	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	TCF3_ENST00000588136.1_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron			P15923	TFE2_HUMAN	transcription factor 3	533					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GAGGGAGACAGTGAGGTTGGG	0.697			T	"PBX1, HLF, TFPT"	pre B-ALL								10	32					0	0	0	0	A	1615558	G	A	1615558	2	1	455	1	0	0	0	0	0	0	0	1	15788	1044	36	4		4	TCF3	19	1615558	Silent	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08		1615558	57513425	50	88663											
SLC1A6	6511	broad.mit.edu	37	chr19	15073002	15073002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctcctcaaagctcagcatCtcctgcagggtacccaaggc	9	8	9	15	0	4	0	2	0	2	0	6	0	4	0	3	2	4	4	3	2	3	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:15073002C>G	ENST00000598504.1	-	8	2106	c.747G>C	c.(745-747)gaG>gaC	p.E249D	SLC1A6_ENST00000430939.2_Missense_Mutation_p.E185D|SLC1A6_ENST00000600144.1_Missense_Mutation_p.E249D|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E249D|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E249D	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	249					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AGCTCAGCATCTCCTGCAGGG	0.602													4	90					0	0	0	0	G	15073002	C	G	15073002	3	3	455	1	0	0	0	0	1	0	0	0	14524	912	32	2	967	2	SLC1A6	19	15073002	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	13457444	15073002	44055981	51	88664											
BRD4	23476	broad.mit.edu	37	chr19	15355538	15355538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttcttctgctccctccCggggtgccccttcttttttg	1	17	7	16	1	3	0	0	0	3	0	5	0	5	0	5	2	3	1	5	2	1	7			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:15355538C>T	ENST00000263377.2	-	12	2415	c.2194G>A	c.(2194-2196)Ggg>Agg	p.G732R		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	732					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGCTCCCTCCCGGGGTGCCCC	0.582			T	C15orf55	lethal midline carcinoma of young people								12	193					0	0	0	0	T	15355538	C	T	15355538	3	4	455	1	0	0	0	0	1	0	0	0	1512	652	23	1	1930	1	BRD4	19	15355538	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	282536	15355538	43773445	52	88665											
C19orf47	126526	broad.mit.edu	37	chr19	40827960	40827960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgacctggctgtcCtgggcctcgggcacaagggc	4	8	17	12	1	0	1	0	1	0	0	2	1	1	1	3	5	1	3	3	5	1	0			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:40827960C>G	ENST00000582783.1	-	9	1110	c.1098G>C	c.(1096-1098)caG>caC	p.Q366H	C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.Q299H	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	366										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCTGGCTGTCCTGGGCCTCGG	0.617													10	53					0	0	0	0	G	40827960	C	G	40827960	3	3	455	1	0	0	0	0	1	0	0	0	1948	680	24	4	174	4	C19orf47	19	40827960	Missense_Mutation	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08	25472422	40827960	18301023	53	88666											
ZNF155	7711	broad.mit.edu	37	chr19	44500969	44500977	+	In_Frame_Del	DEL	ATGTGATAA	ATGTGATAA	-																															aaaccatttaggtgtgatacAtgtgataagagctttcatca																										TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:44500969_44500977delATGTGATAA	ENST00000270014.2	+	5	1088_1096	c.960_968delATGTGATAA	c.(958-969)acg>ac	p.TCDK320del	ZNF155_ENST00000407951.2_In_Frame_Del_p.TCDK331del|ZNF155_ENST00000590615.1_In_Frame_Del_p.TCDK320del	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	320						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGTGTGATACATGTGATAAGAGCTTTCAT	0.407													18	102	---	---	---	---					-	44500977	ATGTGATAA	-	44500969	7	5	455	1	0	1	0	1	0	0	0	0	17831	204	8	0	974	0	ZNF155	19	44500969	In_Frame_Del	DEL	ATGTGATAA	TCGA-MZ-A6I9-01A-11D-A31L-08	3673009	44500969	14628014	54	88667											
ZNF135	7694	broad.mit.edu	37	chr19	58579419	58579419	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggggagaagccctacGaatgcaaccagtgtggcaga	13	5	13	10	1	0	2	0	0	0	2	0	4	0	2	2	3	4	2	2	3	4	1			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:58579419G>T	ENST00000506786.1	+	5	1995	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	ZNF135_ENST00000401053.4_Nonsense_Mutation_p.E547*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.E523*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.E523*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.E535*|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	535					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAAGCCCTACGAATGCAACCA	0.537													23	71					2.70639e-06	2.98915e-06	1	0	T	58579419	G	T	58579419	4	4	455	1	0	0	0	0	0	1	0	0	17820	1059	37	3	1770	3	ZNF135	19	58579419	Nonsense_Mutation	SNP	G	TCGA-MZ-A6I9-01A-11D-A31L-08	14078450	58579419	549564	55	88668											
FOXR2	139628	broad.mit.edu	37	chrX	55650297	55650297	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttgccaaatacagagtCggagtaatgaagcccccaga	14	7	9	11	1	0	3	0	1	0	2	2	4	1	4	4	1	3	1	4	1	4	3			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chrX:55650297C>A	ENST00000339140.3	+	1	465	c.153C>A	c.(151-153)gtC>gtA	p.V51V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	51					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AATACAGAGTCGGAGTAATGA	0.527													23	38					2.27525e-19	2.59029e-19	1	0	A	55650297	C	A	55650297	2	1	455	1	0	0	0	0	0	0	0	1	6079	871	31	3		3	FOXR2	23	55650297	Silent	SNP	C	TCGA-MZ-A6I9-01A-11D-A31L-08		55650297	99620263	56	88669											
CNR2	1269	broad.mit.edu	37	chr1	24201772	24201772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgaaggtcatagtcacGctgccaatcttcagcaggaa	11	9	11	10	1	4	1	3	1	1	0	4	2	4	2	1	2	2	3	1	2	4	2	rs142210955		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:24201772G>A	ENST00000536471.1	-	3	594	c.336C>T	c.(334-336)agC>agT	p.S112S	CNR2_ENST00000374472.4_Silent_p.S112S			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	112					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TCATAGTCACGCTGCCAATCT	0.527													4	111					0	0	0	0	A	24201772	G	A	24201772	2	1	456	1	0	0	0	0	0	0	0	1	3662	1078	38	1		1	CNR2	1	24201772	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08		24201772	225048849	1	88670											
PIK3R3	8503	broad.mit.edu	37	chr1	46512294	46512294	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcactcctttgtgattgagCcatctgccagaggaaagaca	11	10	9	11	0	2	4	1	2	1	2	3	5	3	5	3	1	2	0	3	1	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:46512294C>T	ENST00000262741.5	-	8	1634	c.945G>A	c.(943-945)tgG>tgA	p.W315*	PIK3R3_ENST00000340332.6_Nonsense_Mutation_p.W220*|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000540385.1_Nonsense_Mutation_p.W361*|PIK3R3_ENST00000354242.4_Nonsense_Mutation_p.W256*|PIK3R3_ENST00000420542.1_Nonsense_Mutation_p.W315*|PIK3R3_ENST00000372006.1_Nonsense_Mutation_p.W315*|PIK3R3_ENST00000423209.1_Nonsense_Mutation_p.W256*	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	315					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGTGATTGAGCCATCTGCCAG	0.448													4	107					0	0	0	0	T	46512294	C	T	46512294	4	4	456	1	0	0	0	0	0	1	0	0	11992	740	26	4	452	4	PIK3R3	1	46512294	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	22310522	46512294	202738327	2	88671											
TTLL7	79739	broad.mit.edu	37	chr1	84387020	84387020	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaattgaattttgaccataGagcctcctttgagcctcagc	10	14	7	10	0	1	4	1	3	0	1	2	4	2	4	4	0	3	0	4	0	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:84387020G>C	ENST00000260505.8	-	11	1577	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	400					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTGACCATAGAGCCTCCTTT	0.418													10	138					0	0	0	0	C	84387020	G	C	84387020	2	2	456	1	0	0	0	0	0	0	0	1	16828	929	33	2		2	TTLL7	1	84387020	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	37874726	84387020	164863601	3	88672											
LRRC8D	55144	broad.mit.edu	37	chr1	90399031	90399031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagaagaaagatccaaCaggtcgaaaaacaaacttgg	21	4	10	6	1	0	3	0	0	0	3	2	6	1	3	1	2	3	0	1	2	7	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:90399031C>G	ENST00000337338.5	+	3	811	c.404C>G	c.(403-405)aCa>aGa	p.T135R	LRRC8D_ENST00000394593.3_Missense_Mutation_p.T135R	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	135						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AAAGATCCAACAGGTCGAAAA	0.408													5	71					0	0	0	0	G	90399031	C	G	90399031	3	3	456	1	0	0	0	0	1	0	0	0	9088	478	17	4	406	4	LRRC8D	1	90399031	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	6012011	90399031	158851590	4	88673											
LCE2B	26239	broad.mit.edu	37	chr1	152659474	152659474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttgctgtggtcccatctCtgggggctgctgtggtccca	2	14	13	12	0	2	0	0	0	2	0	5	0	4	0	2	4	2	3	2	4	0	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:152659474C>G	ENST00000368780.3	+	2	209	c.155C>G	c.(154-156)tCt>tGt	p.S52C	LCE2B_ENST00000417924.2_Missense_Mutation_p.S52C	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	52	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCCATCTCTGGGGGCTGC	0.637													18	292					0	0	0	0	G	152659474	C	G	152659474	3	3	456	1	0	0	0	0	1	0	0	0	8719	913	32	2	157	2	LCE2B	1	152659474	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	62260443	152659474	96591147	5	88674											
CCDC19	25790	broad.mit.edu	37	chr1	159842768	159842768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttttcctcttgatctcatCgatgcgctcacggcgtttct	4	17	7	13	4	4	1	2	1	3	0	7	2	5	1	1	1	1	2	1	1	0	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:159842768C>T	ENST00000426543.2	-	11	1743	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	CCDC19_ENST00000476696.1_5'UTR|RP11-190A12.7_ENST00000544342.1_Missense_Mutation_p.D13N|CCDC19_ENST00000368099.4_Missense_Mutation_p.D515N			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	515						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGATCTCATCGATGCGCTCA	0.577													44	67					0	0	0	0	T	159842768	C	T	159842768	3	4	456	1	0	0	0	0	1	0	0	0	2821	884	31	1	120	1	CCDC19	1	159842768	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	7183294	159842768	89407853	6	88675											
DUSP27	92235	broad.mit.edu	37	chr1	167096486	167096486	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctccaaccccaccacaccCctgcctaacctgccagtggg	9	5	6	21	0	0	0	0	0	0	0	1	0	1	0	10	1	4	0	10	1	2	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:167096486C>A	ENST00000361200.2	+	6	2284	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	DUSP27_ENST00000443333.1_Silent_p.P706P|DUSP27_ENST00000271385.5_Silent_p.P706P|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	706					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCACCACACCCCTGCCTAACC	0.572													5	48					0.000602214	0.000626895	1	0	A	167096486	C	A	167096486	2	1	456	1	0	0	0	0	0	0	0	1	4860	610	22	4		4	DUSP27	1	167096486	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	7253718	167096486	82154135	7	88676											
ZBTB37	84614	broad.mit.edu	37	chr1	173840134	173840134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagtggcttgggcctgaGaatcagccttctggagaaga	10	8	16	7	0	2	3	1	1	1	3	2	7	2	4	2	4	1	1	2	4	2	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:173840134G>A	ENST00000367704.1	+	3	1170	c.771G>A	c.(769-771)gaG>gaA	p.E257E	ZBTB37_ENST00000432989.1_Silent_p.E257E|ZBTB37_ENST00000367701.4_Silent_p.E257E|ZBTB37_ENST00000427304.1_Silent_p.E257E|ZBTB37_ENST00000367702.1_Silent_p.E257E			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TTGGGCCTGAGAATCAGCCTT	0.493													10	63					0	0	0	0	A	173840134	G	A	173840134	2	1	456	1	0	0	0	0	0	0	0	1	17633	933	33	2		2	ZBTB37	1	173840134	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	6743648	173840134	75410487	8	88677											
SEC16B	89866	broad.mit.edu	37	chr1	177936837	177936837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaatacaactgattgcGataaccaccttcgtaatagt	13	12	6	10	2	0	2	0	2	0	0	1	3	0	2	3	0	4	1	3	0	6	7			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:177936837G>T	ENST00000308284.6	-	2	369	c.280C>A	c.(280-282)Cgc>Agc	p.R94S	SEC16B_ENST00000464631.1_Missense_Mutation_p.R94S|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R94S|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	94	Required for endoplasmic reticulum localization.|Tyr-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AACTGATTGCGATAACCACCT	0.483													15	58					6.72482e-11	7.52469e-11	1	0	T	177936837	G	T	177936837	3	4	456	1	0	0	0	0	1	0	0	0	14074	1058	37	3	3002	3	SEC16B	1	177936837	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	4096703	177936837	71313784	9	88678											
CEP350	9857	broad.mit.edu	37	chr1	180022217	180022217	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagagagtcaccgcagAtttaacatggaaaagagaag	16	7	10	8	1	2	3	2	0	0	3	2	6	2	4	2	1	1	1	2	1	4	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:180022217A>G	ENST00000367607.3	+	23	5323	c.4905A>G	c.(4903-4905)agA>agG	p.R1635R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1635						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTCACCGCAGATTTAACATGG	0.368													13	79					0	0	0	0	G	180022217	A	G	180022217	2	3	456	1	0	0	0	0	0	0	0	1	3283	330	12	5		5	CEP350	1	180022217	Silent	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	2085380	180022217	69228404	10	88679											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649841	232649841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcgccttcccctccagtCtcatttctaaagtaaggaca	9	12	6	14	1	2	0	1	0	2	0	6	1	4	1	4	1	0	1	4	1	3	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:232649841C>T	ENST00000366630.1	-	2	1603	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	SIPA1L2_ENST00000262861.4_Silent_p.E415E			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	415					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCCTCCAGTCTCATTTCTAA	0.522													14	252					0	0	0	0	T	232649841	C	T	232649841	2	4	456	1	0	0	0	0	0	0	0	1	14418	912	32	2		2	SIPA1L2	1	232649841	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	52627624	232649841	16600780	11	88680											
OR2M7	391196	broad.mit.edu	37	chr1	248487820	248487820	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggggctatgattgaaGattcccaggaggaggaagtc	10	9	17	5	0	0	3	0	2	0	1	2	6	1	6	1	6	0	1	1	6	3	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:248487820G>T	ENST00000317965.2	-	1	79	c.51C>A	c.(49-51)atC>atA	p.I17I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TATGATTGAAGATTCCCAGGA	0.468													9	230					4.68919e-08	5.1785e-08	1	0	T	248487820	G	T	248487820	2	4	456	1	0	0	0	0	0	0	0	1	11085	932	33	2		2	OR2M7	1	248487820	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	15837979	248487820	762801	12	88681											
DPYSL5	56896	broad.mit.edu	37	chr2	27121556	27121556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggtgatccctggtggcatCgacaccagcacccacttcca	8	8	9	16	1	0	1	0	1	0	0	3	2	2	1	4	3	1	2	4	3	0	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:27121556C>G	ENST00000288699.6	+	2	347	c.189C>G	c.(187-189)atC>atG	p.I63M	DPYSL5_ENST00000401478.1_Missense_Mutation_p.I63M	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	63					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGCATCGACACCAGCA	0.572													12	44					0	0	0	0	G	27121556	C	G	27121556	3	3	456	1	0	0	0	0	1	0	0	0	4786	874	31	3	191	3	DPYSL5	2	27121556	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		27121556	216077817	13	88682											
EIF2B4	8890	broad.mit.edu	37	chr2	27592056	27592056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccaactgaatgcccgattCtggcagttctctggttgggc	6	11	12	12	1	2	1	0	1	2	0	3	2	2	1	2	3	2	3	2	3	2	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:27592056C>G	ENST00000493344.2	-	3	610	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	EIF2B4_ENST00000451130.2_Missense_Mutation_p.E99Q|EIF2B4_ENST00000347454.4_Missense_Mutation_p.E79Q|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E78Q			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	79					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCCGATTCTGGCAGTTCT	0.547													28	125					0	0	0	0	G	27592056	C	G	27592056	3	3	456	1	0	0	0	0	1	0	0	0	5039	922	32	2	1376	2	EIF2B4	2	27592056	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	470500	27592056	215607317	14	88683											
SLC8A1	6546	broad.mit.edu	37	chr2	40655965	40655965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaattttcatcctcctCaaagatatcatcatctatga	15	13	4	9	0	5	2	4	1	1	1	7	3	7	3	2	1	0	0	2	1	5	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:40655965C>G	ENST00000406785.1	-	2	1645	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	SLC8A1_ENST00000405901.3_Missense_Mutation_p.E486Q|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E486Q|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E486Q|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E486Q			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	486	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	TCATCCTCCTCAAAGATATCA	0.408													18	80					0	0	0	0	G	40655965	C	G	40655965	3	3	456	1	0	0	0	0	1	0	0	0	14794	835	29	2	1613	2	SLC8A1	2	40655965	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	13063909	40655965	202543408	15	88684											
NRXN1	9378	broad.mit.edu	37	chr2	50850745	50850745	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaacgtggcaatatattCttcttttcctagaggaaaac	12	15	7	7	1	2	2	0	1	2	1	3	3	3	3	1	2	2	1	1	2	7	8			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:50850745C>A	ENST00000404971.1	-	7	2279	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.E281*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E281*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E281*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	281	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			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)			GCAATATATTCTTCTTTTCCT	0.358													15	35					1.49906e-05	1.61339e-05	1	0	A	50850745	C	A	50850745	4	1	456	1	0	0	0	0	0	1	0	0	10736	922	32	2	4038	2	NRXN1	2	50850745	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	10194780	50850745	192348628	16	88685											
SLC4A5	57835	broad.mit.edu	37	chr2	74452001	74452001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcgtgggcccctttttttCtcttcctcttcttgtctgtc	0	20	6	15	1	4	0	0	0	4	0	8	0	5	0	4	1	0	0	4	1	0	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:74452001C>T	ENST00000394019.2	-	28	3609	c.3212G>A	c.(3211-3213)aGa>aAa	p.R1071K	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R1087K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R990K|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R1087K|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R990K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R969K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R969K|SLC4A5_ENST00000423644.1_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1087						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCTTTTTTTCTCTTCCTCTT	0.517													32	133					0	0	0	0	T	74452001	C	T	74452001	3	4	456	1	0	0	0	0	1	0	0	0	14745	913	32	2	165	2	SLC4A5	2	74452001	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	23601256	74452001	168747372	17	88686											
CD8A	925	broad.mit.edu	37	chr2	87016465	87016465	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggttgcagtaaagggtGataaccagtgacaggagaag	13	8	15	5	0	0	3	0	2	0	1	0	4	0	3	1	3	2	3	1	3	4	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:87016465G>T	ENST00000409511.2	-	7	1636	c.606C>A	c.(604-606)atC>atA	p.I202I	CD8A_ENST00000409781.1_Silent_p.I165I|CD8A_ENST00000283635.3_Silent_p.I202I|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000538832.1_Silent_p.I243I|CD8A_ENST00000352580.3_Intron	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	202					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGTAAAGGGTGATAACCAGTG	0.617													11	172					5.50884e-06	5.97968e-06	1	0	T	87016465	G	T	87016465	2	4	456	1	0	0	0	0	0	0	0	1	3073	1280	45	2		2	CD8A	2	87016465	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	12564464	87016465	156182908	18	88687											
IL1R1	3554	broad.mit.edu	37	chr2	102785108	102785108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcccagctaatgagacaAtggaagtagacttgggtaag	14	8	13	6	0	0	3	0	2	0	2	0	5	0	4	1	2	2	3	1	2	5	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:102785108A>G	ENST00000410023.1	+	7	1024	c.706A>G	c.(706-708)Atg>Gtg	p.M236V	IL1R1_ENST00000233946.3_Missense_Mutation_p.M236V|IL1R1_ENST00000424272.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409929.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409288.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409329.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	236	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAATGAGACAATGGAAGTAGA	0.368													23	122					0	0	0	0	G	102785108	A	G	102785108	3	3	456	1	0	0	0	0	1	0	0	0	7711	101	4	5	724	5	IL1R1	2	102785108	Missense_Mutation	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	15768643	102785108	140414265	19	88688											
RGPD8	727851	broad.mit.edu	37	chr2	113146877	113146877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttattttcttcctcagtGacttttgtttgatcatttgt	5	22	5	9	0	3	2	2	2	1	0	4	2	4	2	2	0	0	1	2	0	1	8			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:113146877G>A	ENST00000302558.3	-	20	3836	c.3645C>T	c.(3643-3645)gtC>gtT	p.V1215V	RGPD8_ENST00000409750.1_Silent_p.V1075V	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CTTCCTCAGTGACTTTTGTTT	0.418													13	521					0	0	0	0	A	113146877	G	A	113146877	2	1	456	1	0	0	0	0	0	0	0	1	13373	1277	45	2		2	RGPD8	2	113146877	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	10361769	113146877	130052496	20	88689											
TUBA3E	112714	broad.mit.edu	37	chr2	130951771	130951771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgttcaatgtccaggttgCgccgacatatgtcatagatg	10	11	11	9	3	2	1	2	0	0	1	3	3	3	1	2	1	1	2	2	1	3	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:130951771C>T	ENST00000312988.7	-	4	744	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	215					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTCCAGGTTGCGCCGACATAT	0.552													5	156					0	0	0	0	T	130951771	C	T	130951771	3	4	456	1	0	0	0	0	1	0	0	0	16844	768	27	1	716	1	TUBA3E	2	130951771	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	17804894	130951771	112247602	21	88690											
FMNL2	114793	broad.mit.edu	37	chr2	153494169	153494169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctttcctgtctttgtccGgtttgtgaaagcatataagg	7	17	9	8	1	2	1	0	1	2	0	4	1	4	1	2	2	1	2	2	2	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:153494169G>A	ENST00000288670.9	+	23	3294	c.2927G>A	c.(2926-2928)cGg>cAg	p.R976Q	FMNL2_ENST00000475377.2_Missense_Mutation_p.R351Q	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	976	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GTCTTTGTCCGGTTTGTGAAA	0.438													7	57					0	0	0	0	A	153494169	G	A	153494169	3	1	456	1	0	0	0	0	1	0	0	0	5997	1116	39	1	3017	1	FMNL2	2	153494169	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	22542398	153494169	89705204	22	88691											
ACVR1C	130399	broad.mit.edu	37	chr2	158401124	158401124	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtccaagttccattaTctaacaagaaaatgtaattt	15	14	6	6	0	1	2	0	1	1	1	3	2	3	2	2	0	1	3	2	0	7	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:158401124T>C	ENST00000243349.7	-	5	1136	c.775_splice	c.e5-1	p.D259_splice	ACVR1C_ENST00000348328.5_Splice_Site_p.D102_splice|ACVR1C_ENST00000335450.7_Splice_Site_p.D179_splice|ACVR1C_ENST00000409680.3_Splice_Site_p.D209_splice	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	259	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AGTTCCATTATCTAACAAGAA	0.318													15	60					0	0	0	0	C	158401124	T	C	158401124	5	2	456	1	0	0	0	0	0	0	1	0	222	1449	50	5	725	5	ACVR1C	2	158401124	Splice_Site	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	4906955	158401124	84798249	23	88692											
DHRS9	10170	broad.mit.edu	37	chr2	169952147	169952147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctctaacaagtctcttccCtaagactcattatgccgctg	9	12	6	14	2	3	1	1	0	2	1	5	1	4	1	2	0	2	2	2	0	4	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:169952147C>T	ENST00000327239.4	+	8	2334	c.830C>T	c.(829-831)cCt>cTt	p.P277L	DHRS9_ENST00000436483.2_Missense_Mutation_p.P277L|DHRS9_ENST00000602501.1_Missense_Mutation_p.P277L|DHRS9_ENST00000432060.2_Missense_Mutation_p.P337L|DHRS9_ENST00000357546.2_Missense_Mutation_p.P277L|DHRS9_ENST00000428522.1_Missense_Mutation_p.P277L|DHRS9_ENST00000412271.1_Missense_Mutation_p.P277L|DHRS9_ENST00000421653.1_Missense_Mutation_p.P130L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	277					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCTCTTCCCTAAGACTCAT	0.423													9	228					0	0	0	0	T	169952147	C	T	169952147	3	4	456	1	0	0	0	0	1	0	0	0	4535	681	24	4	844	4	DHRS9	2	169952147	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	11551023	169952147	73247226	24	88693											
DHRS9	10170	broad.mit.edu	37	chr2	169952187	169952187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaagatgccaaaattttCtggatacctctgtctcacat	13	12	7	9	0	3	1	1	0	3	1	4	3	3	3	2	2	2	0	2	2	5	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:169952187C>T	ENST00000327239.4	+	8	2374	c.870C>T	c.(868-870)ttC>ttT	p.F290F	DHRS9_ENST00000436483.2_Silent_p.F290F|DHRS9_ENST00000602501.1_Silent_p.F290F|DHRS9_ENST00000432060.2_Silent_p.F350F|DHRS9_ENST00000357546.2_Silent_p.F290F|DHRS9_ENST00000428522.1_Silent_p.F290F|DHRS9_ENST00000412271.1_Silent_p.F290F|DHRS9_ENST00000421653.1_Silent_p.F143F	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	290					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CCAAAATTTTCTGGATACCTC	0.468													8	173					0	0	0	0	T	169952187	C	T	169952187	2	4	456	1	0	0	0	0	0	0	0	1	4535	912	32	2		2	DHRS9	2	169952187	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	40	169952187	73247186	25	88694											
TTN	7273	broad.mit.edu	37	chr2	179496028	179496028	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaatatgggtctccctCtgcaagtaaagtataagtga	14	12	9	6	0	2	1	0	1	2	0	3	1	2	1	1	1	1	4	1	1	8	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:179496028C>A	ENST00000589042.1	-	237	43972		c.e237-1		TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_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			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)			GGGTCTCCCTCTGCAAGTAAA	0.353													6	38					0.00116845	0.00120644	1	0	A	179496028	C	A	179496028	5	1	456	1	0	0	0	0	0	0	1	0	16831	927	32	2	64450	2	TTN	2	179496028	Splice_Site	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	9543841	179496028	63703345	26	88695											
TTN	7273	broad.mit.edu	37	chr2	179584857	179584857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcctggtattttcactctCtctgatgacttcacctctat	8	17	4	12	0	5	2	2	2	3	0	7	2	6	2	2	1	0	1	2	1	3	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:179584857C>T	ENST00000589042.1	-	81	23736	c.23512G>A	c.(23512-23514)Gag>Aag	p.E7838K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6594K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7521K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7521	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCACTCTCTCTGATGACT	0.438													20	106					0	0	0	0	T	179584857	C	T	179584857	3	4	456	1	0	0	0	0	1	0	0	0	16831	922	32	2	81145	2	TTN	2	179584857	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	88829	179584857	63614516	27	88696											
ALS2CR11	151254	broad.mit.edu	37	chr2	202469364	202469364	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggcaccaaatttggcgtCtcctgtgttatttccagttc	8	15	8	10	1	1	0	0	0	1	0	4	0	2	0	3	2	0	3	3	2	3	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:202469364C>T	ENST00000439140.1	-	2	332	c.288G>A	c.(286-288)gaG>gaA	p.E96E	ALS2CR11_ENST00000450242.1_Silent_p.E96E|ALS2CR11_ENST00000286195.3_Silent_p.E96E|ALS2CR11_ENST00000439802.1_Silent_p.E96E	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	96										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AATTTGGCGTCTCCTGTGTTA	0.333													11	160					0	0	0	0	T	202469364	C	T	202469364	2	4	456	1	0	0	0	0	0	0	0	1	552	912	32	2		2	ALS2CR11	2	202469364	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	22884507	202469364	40730009	28	88697											
INO80D	54891	broad.mit.edu	37	chr2	206869117	206869117	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggggagggaaagggagaaGatgcattattggtacttgta	13	10	16	2	0	0	2	0	0	0	2	0	5	0	4	0	5	2	3	0	5	6	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:206869117G>C	ENST00000403263.1	-	11	3463	c.3059C>G	c.(3058-3060)tCt>tGt	p.S1020C		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAAGGGAGAAGATGCATTATT	0.522													4	10					0	0	0	0	C	206869117	G	C	206869117	3	2	456	1	0	0	0	0	1	0	0	0	7802	942	33	2	28	2	INO80D	2	206869117	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	4399753	206869117	36330256	29	88698											
ABCA12	26154	broad.mit.edu	37	chr2	215818734	215818734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttaagaagtctaggaccGactgttgttgagaaagttca	12	13	10	6	1	2	2	1	1	1	2	2	5	2	3	1	1	0	3	1	1	4	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:215818734G>A	ENST00000272895.7	-	44	6710	c.6491C>T	c.(6490-6492)tCg>tTg	p.S2164L	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1846L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2164					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTCTAGGACCGACTGTTGTTG	0.398													31	78					0	0	0	0	A	215818734	G	A	215818734	3	1	456	1	0	0	0	0	1	0	0	0	30	1059	37	1	1336	1	ABCA12	2	215818734	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	8949617	215818734	27380639	30	88699											
CXCR2	3579	broad.mit.edu	37	chr2	219000424	219000424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggctctggatgccaccgaGattctgggcatccttcacag	7	9	12	13	2	3	1	1	0	2	1	4	3	4	2	3	3	1	2	3	3	0	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:219000424G>A	ENST00000318507.2	+	3	1327	c.900G>A	c.(898-900)gaG>gaA	p.E300E		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	300					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATGCCACCGAGATTCTGGGCA	0.567													4	87					0	0	0	0	A	219000424	G	A	219000424	2	1	456	1	0	0	0	0	0	0	0	1	4123	933	33	2		2	CXCR2	2	219000424	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	3181690	219000424	24198949	31	88700											
PBRM1	55193	broad.mit.edu	37	chr3	52643393	52643393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaataaatcaagccgacGgtagcgattattttcaacat	15	12	7	7	3	2	1	2	1	0	0	2	3	2	1	1	1	3	1	1	1	7	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:52643393G>A	ENST00000356770.4	-	15	2409	c.2407C>T	c.(2407-2409)Cgt>Tgt	p.R803C	PBRM1_ENST00000409767.1_Missense_Mutation_p.R850C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R850C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R835C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R835C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R835C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R835C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R835C			Q86U86	PB1_HUMAN	polybromo 1	835	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAGCCGACGGTAGCGATTA	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								4	84					0	0	0	0	A	52643393	G	A	52643393	3	1	456	1	0	0	0	0	1	0	0	0	11562	1116	39	1	2457	1	PBRM1	3	52643393	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08		52643393	145379037	32	88701											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085012	64085012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaagccaggtccgacacagtCctagggcactggccgtacag	11	5	12	13	2	0	0	0	0	0	0	2	1	2	0	4	3	2	2	4	3	3	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:64085012C>G	ENST00000295902.6	-	8	2835	c.2250G>C	c.(2248-2250)agG>agC	p.R750S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R806S|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	750						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCGACACAGTCCTAGGGCACT	0.597													12	31					0	0	0	0	G	64085012	C	G	64085012	3	3	456	1	0	0	0	0	1	0	0	0	12567	854	30	2	288	2	PRICKLE2	3	64085012	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	11441619	64085012	133937418	33	88702											
TMF1	7110	broad.mit.edu	37	chr3	69084235	69084235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggcagccgcttgttctGtacgctgcaatgcaagccta	7	12	10	12	2	2	0	0	0	2	0	2	0	2	0	2	1	5	7	2	1	4	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:69084235G>C	ENST00000543976.1	-	9	2438	c.2192C>G	c.(2191-2193)aCa>aGa	p.T731R	TMF1_ENST00000398559.2_Missense_Mutation_p.T728R|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	728					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CGCTTGTTCTGTACGCTGCAA	0.438													28	148					0	0	0	0	C	69084235	G	C	69084235	3	2	456	1	0	0	0	0	1	0	0	0	16322	1377	48	4	1134	4	TMF1	3	69084235	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	4999223	69084235	128938195	34	88703											
DPPA4	55211	broad.mit.edu	37	chr3	109049641	109049641	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccggattttggcctcttTtgctgtgctaggaaaatcct	6	17	9	9	1	1	0	0	0	1	0	3	2	3	2	3	3	2	2	3	3	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:109049641T>G	ENST00000335658.6	-	5	463	c.409A>C	c.(409-411)Aaa>Caa	p.K137Q	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	137						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGGCCTCTTTTGCTGTGCTA	0.363													71	82					0	0	0	0	G	109049641	T	G	109049641	3	3	456	1	0	0	0	0	1	0	0	0	4772	1850	64	5	517	5	DPPA4	3	109049641	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	39965406	109049641	88972789	35	88704											
SIDT1	54847	broad.mit.edu	37	chr3	113342480	113342480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccacagctccgcagctCtgaaaaggtcctcccagtcc	8	7	7	19	1	1	1	0	1	1	0	6	1	6	1	6	1	2	3	6	1	2	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:113342480C>G	ENST00000264852.4	+	23	2933	c.2207C>G	c.(2206-2208)tCt>tGt	p.S736C	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.S741C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	736						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTCCGCAGCTCTGAAAAGGTC	0.642													10	250					0	0	0	0	G	113342480	C	G	113342480	3	3	456	1	0	0	0	0	1	0	0	0	14390	913	32	2	2297	2	SIDT1	3	113342480	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	4292839	113342480	84679950	36	88705											
MME	4311	broad.mit.edu	37	chr3	154855962	154855962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaagaaagattgcccatCgatgaaaaccagcttgcttt	14	9	9	9	1	0	3	0	1	0	2	1	5	0	4	2	1	4	2	2	1	4	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:154855962C>T	ENST00000460393.1	+	9	912	c.792C>T	c.(790-792)atC>atT	p.I264I	MME_ENST00000492661.1_Silent_p.I264I|MME_ENST00000493237.1_Silent_p.I264I|MME_ENST00000462745.1_Silent_p.I264I|MME_ENST00000360490.2_Silent_p.I264I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	264					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GATTGCCCATCGATGAAAACC	0.338													19	271					0	0	0	0	T	154855962	C	T	154855962	2	4	456	1	0	0	0	0	0	0	0	1	9714	874	31	1		1	MME	3	154855962	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	41513482	154855962	43166468	37	88706											
SLC2A2	6514	broad.mit.edu	37	chr3	170732436	170732436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagattgtgggcagttcatCtgtactgttgataacatagt	10	15	11	5	0	2	2	1	2	1	1	2	3	2	2	0	1	2	4	0	1	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:170732436C>T	ENST00000314251.3	-	3	272	c.193G>A	c.(193-195)Gat>Aat	p.D65N	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	65					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GGCAGTTCATCTGTACTGTTG	0.428													7	207					0	0	0	0	T	170732436	C	T	170732436	3	4	456	1	0	0	0	0	1	0	0	0	14632	913	32	2	1417	2	SLC2A2	3	170732436	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	15876474	170732436	27289994	38	88707											
PEX5L	51555	broad.mit.edu	37	chr3	179592146	179592146	+	Missense_Mutation	SNP	G	G	A																															ccactaattccaattctgaaGccgactcagagttgagggcg																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:179592146G>A	ENST00000467460.1	-	7	1025	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	232					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAATTCTGAAGCCGACTCAGA	0.393													33	115					0	0	0	0	A	179592146	G	A	179592146	3	1	456	1	0	0	0	0	1	0	0	0	11821	971	34	4	1221	4	PEX5L	3	179592146	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	8859710	179592146	18430284	39	88708	1095	2									
PEX5L	51555	broad.mit.edu	37	chr3	179592147	179592147	+	Missense_Mutation	SNP	C	C	A																															cactaattccaattctgaagCcgactcagagttgagggcgc																								rs142589999		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:179592147C>A	ENST00000467460.1	-	7	1024	c.694G>T	c.(694-696)Gct>Tct	p.A232S	PEX5L_ENST00000263962.8_Missense_Mutation_p.A230S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173S|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124S|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	232					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AATTCTGAAGCCGACTCAGAG	0.393													33	115					4.34311e-12	4.88119e-12	1	0	A	179592147	C	A	179592147	3	1	456	1	0	0	0	0	1	0	0	0	11821	739	26	4	1222	4	PEX5L	3	179592147	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1	179592147	18430283	40	88709	1095	2									
PEX5L	51555	broad.mit.edu	37	chr3	179593188	179593188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgaggatgattttctctCtgccattggatgtcccttgg	7	15	11	8	0	2	3	0	2	2	1	4	5	3	5	2	3	1	0	2	3	0	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:179593188C>T	ENST00000467460.1	-	6	913	c.583G>A	c.(583-585)Gag>Aag	p.E195K	PEX5L_ENST00000263962.8_Missense_Mutation_p.E193K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E160K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E152K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E136K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E3K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.E87K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E87K|PEX5L_ENST00000465751.1_Missense_Mutation_p.E171K|PEX5L-AS1_ENST00000466064.1_RNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	195					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GATTTTCTCTCTGCCATTGGA	0.388													5	168					0	0	0	0	T	179593188	C	T	179593188	3	4	456	1	0	0	0	0	1	0	0	0	11821	922	32	2	1337	2	PEX5L	3	179593188	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1041	179593188	18429242	41	88710											
ATP11B	23200	broad.mit.edu	37	chr3	182602674	182602674	+	Frame_Shift_Del	DEL	T	T	-																															atagctacccttgtacagtaTtttttttataaggtgagttt																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:182602674delT	ENST00000323116.5	+	22	2903	c.2643delT	c.(2641-2643)tafs	p.Y881fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	881					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y884fs*30(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTGTACAGTATTTTTTTTATA	0.269													8	183	---	---	---	---					-	182602674	T	-	182602674	7	5	456	1	0	1	0	1	0	0	0	0	1124	1500	52	0	2729	0	ATP11B	3	182602674	Frame_Shift_Del	DEL	T	TCGA-MZ-A7D7-01A-21D-A34J-08	3009486	182602674	15419756	42	88711											
MUC4	4585	broad.mit.edu	37	chr3	195505859	195505859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggatgctgaggaagTgtcggtgacaggaagagggg	10	7	19	5	1	0	3	0	2	0	1	1	6	0	6	1	6	1	1	1	6	2	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:195505859T>C	ENST00000463781.3	-	2	13051	c.12592A>G	c.(12592-12594)Act>Gct	p.T4198A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	961					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T4198A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602													4	7					0	0	0	0	C	195505859	T	C	195505859	3	2	456	1	0	0	0	0	1	0	0	0	10048	1696	59	5		5	MUC4	3	195505859	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	12903185	195505859	2516571	43	88712											
POLN	353497	broad.mit.edu	37	chr4	2082732	2082732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcagtgaagacatggatCatggccagcttgcagaggtc	11	8	13	9	0	1	3	1	1	0	2	2	4	1	4	1	3	3	3	1	3	1	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:2082732C>T	ENST00000511885.2	-	23	2693	c.2340G>A	c.(2338-2340)atG>atA	p.M780I	POLN_ENST00000382865.1_Missense_Mutation_p.M780I			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	780					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGACATGGATCATGGCCAGCT	0.592								DNA polymerases (catalytic subunits)					5	97					0	0	0	0	T	2082732	C	T	2082732	3	4	456	1	0	0	0	0	1	0	0	0	12279	826	29	2	378	2	POLN	4	2082732	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		2082732	189071544	44	88713											
EVC	2121	broad.mit.edu	37	chr4	5785373	5785373	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggcctccccccggaagAgtgtgactacttgaggcagg	8	7	14	12	1	0	3	0	2	0	1	1	5	1	4	4	4	1	1	4	4	2	2	rs140567069		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:5785373A>T	ENST00000382674.2	+	12	1842	c.1658A>T	c.(1657-1659)gAg>gTg	p.E553V	EVC_ENST00000264956.6_Missense_Mutation_p.E553V			P57679	EVC_HUMAN	Ellis van Creveld syndrome	553					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCCCGGAAGAGTGTGACTAC	0.587													9	48					0	0	0	0	T	5785373	A	T	5785373	3	4	456	1	0	0	0	0	1	0	0	0	5323	304	11	5	1704	5	EVC	4	5785373	Missense_Mutation	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	3702641	5785373	185368903	45	88714											
CCDC96	257236	broad.mit.edu	37	chr4	7043387	7043387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgaagttttaaaagttcctCatttcgttcctcaattttct	9	18	5	9	2	3	0	2	0	1	0	6	1	5	0	2	0	0	3	2	0	4	7			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:7043387C>G	ENST00000310085.4	-	1	1341	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	427										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAAAGTTCCTCATTTCGTTCC	0.458													42	225					0	0	0	0	G	7043387	C	G	7043387	3	3	456	1	0	0	0	0	1	0	0	0	2901	835	29	2	392	2	CCDC96	4	7043387	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1258014	7043387	184110889	46	88715											
DRD5	1816	broad.mit.edu	37	chr4	9784050	9784050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatcctgaacctgtgcGtcatcagcgtggaccgctac	7	9	9	16	3	2	1	2	1	0	0	4	2	4	2	5	1	4	1	5	1	2	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:9784050G>A	ENST00000304374.2	+	1	793	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	133					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GAACCTGTGCGTCATCAGCGT	0.622													16	32					0	0	0	0	A	9784050	G	A	9784050	3	1	456	1	0	0	0	0	1	0	0	0	4796	1145	40	1	399	1	DRD5	4	9784050	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	2740663	9784050	181370226	47	88716											
DHX15	1665	broad.mit.edu	37	chr4	24557974	24557974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaagaattattacaccaTaacgctccaggaggggatca	15	8	8	10	1	2	1	2	0	0	1	3	3	3	3	2	3	2	1	2	3	5	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:24557974T>C	ENST00000336812.4	-	4	917	c.761A>G	c.(760-762)tAt>tGt	p.Y254C		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	254	Helicase ATP-binding.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TATTACACCATAACGCTCCAG	0.403													24	61					0	0	0	0	C	24557974	T	C	24557974	3	2	456	1	0	0	0	0	1	0	0	0	4538	1406	49	5	1670	5	DHX15	4	24557974	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	14773924	24557974	166596302	48	88717											
TLR10	81793	broad.mit.edu	37	chr4	38776793	38776793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatttccaggtgtgacatgTtgccagcttcctcacagata	9	12	10	10	0	1	2	1	1	0	1	3	3	3	3	3	2	2	2	3	2	1	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:38776793T>C	ENST00000308973.4	-	4	1024	c.419A>G	c.(418-420)aAc>aGc	p.N140S	TLR10_ENST00000361424.2_Missense_Mutation_p.N140S|TLR10_ENST00000506111.1_Missense_Mutation_p.N140S|TLR10_ENST00000508334.1_Missense_Mutation_p.N140S	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	140					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTGTGACATGTTGCCAGCTTC	0.393													9	101					0	0	0	0	C	38776793	T	C	38776793	3	2	456	1	0	0	0	0	1	0	0	0	16044	1725	60	5	2020	5	TLR10	4	38776793	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	14218819	38776793	152377483	49	88718											
ATP8A1	10396	broad.mit.edu	37	chr4	42553227	42553227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacttactgaatctataatCaccgagtcgggtgttcttcc	10	14	7	10	2	3	1	1	1	2	0	5	2	4	1	2	1	2	1	2	1	5	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:42553227C>T	ENST00000381668.5	-	18	1821	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	ATP8A1_ENST00000264449.10_Silent_p.V515V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	530					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AATCTATAATCACCGAGTCGG	0.348													7	92					0	0	0	0	T	42553227	C	T	42553227	2	4	456	1	0	0	0	0	0	0	0	1	1196	813	29	2		2	ATP8A1	4	42553227	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	3776434	42553227	148601049	50	88719											
KCTD8	386617	broad.mit.edu	37	chr4	44449605	44449605	+	Missense_Mutation	SNP	G	G	T																															aaaatgtactcggtgtagctGctccagatcttgtcgtcgcg																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:44449605G>T	ENST00000360029.3	-	1	1219	c.936C>A	c.(934-936)agC>agA	p.S312R		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	312						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGGTGTAGCTGCTCCAGATCT	0.637										HNSCC(17;0.042)			8	26					0.000157383	0.000165187	1	0	T	44449605	G	T	44449605	3	4	456	1	0	0	0	0	1	0	0	0	8168	1310	46	4	493	4	KCTD8	4	44449605	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	1896378	44449605	146704671	51	88720	1096	2									
KCTD8	386617	broad.mit.edu	37	chr4	44449606	44449606	+	Missense_Mutation	SNP	C	C	T																															aaatgtactcggtgtagctgCtccagatcttgtcgtcgcgg																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:44449606C>T	ENST00000360029.3	-	1	1218	c.935G>A	c.(934-936)aGc>aAc	p.S312N		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	312						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGTGTAGCTGCTCCAGATCTT	0.642										HNSCC(17;0.042)			10	27					0	0	0	0	T	44449606	C	T	44449606	3	4	456	1	0	0	0	0	1	0	0	0	8168	797	28	4	494	4	KCTD8	4	44449606	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1	44449606	146704670	52	88721	1096	2									
SULT1B1	27284	broad.mit.edu	37	chr4	70596325	70596325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgaggtgtgatggatGatcctatccaagatctcatc	12	12	9	8	0	2	4	2	3	1	1	6	5	4	5	2	2	0	0	2	2	3	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:70596325G>T	ENST00000310613.2	-	7	969	c.672C>A	c.(670-672)atC>atA	p.I224I		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	224					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTGATGGATGATCCTATCCA	0.373													15	75					0.00244969	0.00251912	1	0	T	70596325	G	T	70596325	2	4	456	1	0	0	0	0	0	0	0	1	15466	1280	45	2		2	SULT1B1	4	70596325	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	26146719	70596325	120557951	53	88722											
WDFY3	23001	broad.mit.edu	37	chr4	85748079	85748079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgttagggaagttatcaGattaaccagatctttcaagg	12	14	10	5	0	3	2	2	0	1	2	3	3	3	3	1	2	1	3	1	2	5	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:85748079G>A	ENST00000322366.6	-	10	1419	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	WDFY3_ENST00000295888.4_Silent_p.L338L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	338						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAAGTTATCAGATTAACCAGA	0.388													6	178					0	0	0	0	A	85748079	G	A	85748079	2	1	456	1	0	0	0	0	0	0	0	1	17366	933	33	2		2	WDFY3	4	85748079	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	15151754	85748079	105406197	54	88723											
FAT4	79633	broad.mit.edu	37	chr4	126412508	126412508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcctcttctgatagtgactCccatgaatctttcacttgct	8	16	5	12	0	4	3	1	3	3	0	6	3	6	3	2	0	1	1	2	0	2	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:126412508C>G	ENST00000394329.3	+	17	14544	c.14531C>G	c.(14530-14532)tCc>tGc	p.S4844C	FAT4_ENST00000335110.5_Missense_Mutation_p.S3085C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4844					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATAGTGACTCCCATGAATCT	0.453													10	111					0	0	0	0	G	126412508	C	G	126412508	3	3	456	1	0	0	0	0	1	0	0	0	5737	855	30	2	14597	2	FAT4	4	126412508	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	40664429	126412508	64741768	55	88724											
PDLIM3	27295	broad.mit.edu	37	chr4	186446252	186446252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgagtcatggactctgtcCcaaagccgtcaatagccagg	11	8	10	12	1	3	1	2	1	1	0	4	2	4	2	3	2	2	0	3	2	3	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:186446252C>G	ENST00000284767.5	-	2	234	c.167G>C	c.(166-168)gGg>gCg	p.G56A	PDLIM3_ENST00000284771.6_Missense_Mutation_p.G56A|PDLIM3_ENST00000284770.5_Missense_Mutation_p.G56A			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	56	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GGACTCTGTCCCAAAGCCGTC	0.488													20	184					0	0	0	0	G	186446252	C	G	186446252	3	3	456	1	0	0	0	0	1	0	0	0	11752	623	22	4	1147	4	PDLIM3	4	186446252	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	60033744	186446252	4708024	56	88725											
ZFP42	132625	broad.mit.edu	37	chr4	188924394	188924394	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaattcgcttgagtattctGagtacatgacaggcaagaag	14	10	11	6	1	1	5	0	3	1	2	2	5	1	5	0	1	1	4	0	1	5	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:188924394G>C	ENST00000326866.4	+	4	841	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	ZFP42_ENST00000509524.1_Missense_Mutation_p.E145Q	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	145					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGAGTATTCTGAGTACATGAC	0.443													17	181					0	0	0	0	C	188924394	G	C	188924394	3	2	456	1	0	0	0	0	1	0	0	0	17745	1291	45	2	435	2	ZFP42	4	188924394	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	2478142	188924394	2229882	57	88726											
NPR3	4883	broad.mit.edu	37	chr5	32712495	32712495	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgctgcactggtctacAgcgacgacaagctggagcgg	8	5	15	13	5	1	0	0	0	1	0	1	3	1	1	1	3	5	3	1	3	2	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:32712495A>C	ENST00000265074.8	+	1	956	c.613A>C	c.(613-615)Agc>Cgc	p.S205R	NPR3_ENST00000415167.2_Missense_Mutation_p.S205R|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)	205					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			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)	ACTGGTCTACAGCGACGACAA	0.637													18	131					0	0	0	0	C	32712495	A	C	32712495	3	2	456	1	0	0	0	0	1	0	0	0	10667	188	7	5	615	5	NPR3	5	32712495	Missense_Mutation	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08		32712495	148202765	58	88727											
RAI14	26064	broad.mit.edu	37	chr5	34811882	34811882	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttagaactgctctcAtgctggcctgtgagattggc	6	15	10	10	0	1	2	1	1	1	2	3	3	2	2	2	2	3	2	2	2	2	4	rs140883072		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:34811882A>T	ENST00000265109.3	+	9	855	c.568A>T	c.(568-570)Atg>Ttg	p.M190L	RAI14_ENST00000503673.1_Missense_Mutation_p.M190L|RAI14_ENST00000512629.1_Missense_Mutation_p.M190L|RAI14_ENST00000397449.1_Missense_Mutation_p.M183L|RAI14_ENST00000515799.1_Missense_Mutation_p.M193L|RAI14_ENST00000506376.1_Missense_Mutation_p.M182L|RAI14_ENST00000428746.2_Missense_Mutation_p.M190L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	190						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AACTGCTCTCATGCTGGCCTG	0.373													29	131					0	0	0	0	T	34811882	A	T	34811882	3	4	456	1	0	0	0	0	1	0	0	0	13090	217	8	5	663	5	RAI14	5	34811882	Missense_Mutation	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	2099387	34811882	146103378	59	88728											
NIPBL	25836	broad.mit.edu	37	chr5	37052593	37052593	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtgttcacacctttaCtccatgatccgtggaaaccg	8	13	8	12	2	1	1	1	1	0	0	3	2	3	2	4	1	2	2	4	1	2	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:37052593C>G	ENST00000282516.8	+	42	7687	c.7188C>G	c.(7186-7188)taC>taG	p.Y2396*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y2396*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2396					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CACACCTTTACTCCATGATCC	0.423													45	220					0	0	0	0	G	37052593	C	G	37052593	4	3	456	1	0	0	0	0	0	1	0	0	10498	576	20	4	7350	4	NIPBL	5	37052593	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	2240711	37052593	143862667	60	88729											
NUP155	9631	broad.mit.edu	37	chr5	37364039	37364039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcaattgtgagccaagCtctgctgataggagggaaca	12	9	12	8	0	2	2	1	2	1	0	2	4	2	4	1	2	4	2	1	2	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:37364039C>G	ENST00000231498.3	-	3	546	c.343G>C	c.(343-345)Gct>Cct	p.A115P	NUP155_ENST00000381843.2_Missense_Mutation_p.A56P|NUP155_ENST00000513532.1_Missense_Mutation_p.A115P	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	115					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGAGCCAAGCTCTGCTGATA	0.398													11	240					0	0	0	0	G	37364039	C	G	37364039	3	3	456	1	0	0	0	0	1	0	0	0	10827	797	28	4	3964	4	NUP155	5	37364039	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	311446	37364039	143551221	61	88730											
C6	729	broad.mit.edu	37	chr5	41176755	41176755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcagaaaggtgcagatcTttagctttcgttgtgaagtt	11	14	10	6	1	2	3	1	1	1	2	3	3	2	3	0	1	2	4	0	1	3	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:41176755T>G	ENST00000263413.3	-	8	1254	c.990A>C	c.(988-990)aaA>aaC	p.K330N	C6_ENST00000337836.5_Missense_Mutation_p.K330N|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	330	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGTGCAGATCTTTAGCTTTCG	0.353													12	151					0	0	0	0	G	41176755	T	G	41176755	3	3	456	1	0	0	0	0	1	0	0	0	2336	1606	56	5	1858	5	C6	5	41176755	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	3812716	41176755	139738505	62	88731											
RASGRF2	5924	broad.mit.edu	37	chr5	80513198	80513198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaccctcctgcagttccttAtcttgggatgtacttgacag	8	14	8	11	0	1	1	0	1	1	0	3	2	3	2	3	1	3	3	3	1	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:80513198A>G	ENST00000265080.4	+	25	3525	c.3458A>G	c.(3457-3459)tAt>tGt	p.Y1153C	CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1153	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCAGTTCCTTATCTTGGGATG	0.418													42	88					0	0	0	0	G	80513198	A	G	80513198	3	3	456	1	0	0	0	0	1	0	0	0	13155	449	16	5	3556	5	RASGRF2	5	80513198	Missense_Mutation	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	39336443	80513198	100402062	63	88732											
PCDHA9	9752	broad.mit.edu	37	chr5	140229355	140229355	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgcctacgagctggtggtTaccgcgcgggacgggggctc	4	7	17	13	6	0	0	0	0	0	0	2	2	1	1	3	5	3	3	3	5	2	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:140229355T>G	ENST00000378122.3	+	1	1999	c.1275T>G	c.(1273-1275)gtT>gtG	p.V425V	PCDHA9_ENST00000532602.1_Silent_p.V425V|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGGTTACCGCGCGGG	0.637													7	199					0	0	0	0	G	140229355	T	G	140229355	2	3	456	1	0	0	0	0	0	0	0	1	11602	1741	61	5		5	PCDHA9	5	140229355	Silent	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	59716157	140229355	40685905	64	88733											
PCDHA9	9752	broad.mit.edu	37	chr5	140229382	140229382	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacgggggctcgccttcActgtgggccacggccagggt	4	6	18	13	4	1	0	1	0	0	0	2	1	1	1	3	6	0	1	3	6	0	1	rs144490151		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:140229382A>G	ENST00000378122.3	+	1	2026	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	PCDHA9_ENST00000532602.1_Silent_p.S434S|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCACTGTGGGCCA	0.622													5	156					0	0	0	0	G	140229382	A	G	140229382	2	3	456	1	0	0	0	0	0	0	0	1	11602	146	6	5		5	PCDHA9	5	140229382	Silent	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	27	140229382	40685878	65	88734											
PCDHB12	56124	broad.mit.edu	37	chr5	140589992	140589992	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctcgcctccctggtcTccatcaacgcggacaacggc	6	7	9	19	4	2	0	1	0	1	0	5	1	3	1	5	3	3	0	5	3	2	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:140589992T>C	ENST00000239450.2	+	1	1702	c.1513T>C	c.(1513-1515)Tcc>Ccc	p.S505P	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S168P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		505	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			CTCCCTGGTCTCCATCAACGC	0.672													9	139					0	0	0	0	C	140589992	T	C	140589992	3	2	456	1	0	0	0	0	1	0	0	0	11608	1551	54	5	1515	5	PCDHB12	5	140589992	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	360610	140589992	40325268	66	88735											
FAM114A2	10827	broad.mit.edu	37	chr5	153381820	153381820	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attacacttactgggaaagaGtttggctcctttctatggct	9	15	9	8	0	1	1	0	0	1	1	2	2	2	2	1	3	2	3	1	3	4	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:153381820G>C	ENST00000351797.4	-	11	1323	c.1247C>G	c.(1246-1248)aCt>aGt	p.T416S	FAM114A2_ENST00000522858.1_Missense_Mutation_p.T416S|FAM114A2_ENST00000520313.1_Missense_Mutation_p.T346S|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T416S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	416							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTGGGAAAGAGTTTGGCTCCT	0.423													9	106					0	0	0	0	C	153381820	G	C	153381820	3	2	456	1	0	0	0	0	1	0	0	0	5445	1029	36	4	286	4	FAM114A2	5	153381820	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	12791828	153381820	27533440	67	88736											
FAM71B	153745	broad.mit.edu	37	chr5	156592712	156592712	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccgtgtgtcagaagaGggacacaactgcagataaaa	14	8	10	9	1	2	3	1	0	1	3	3	4	3	4	1	1	2	1	1	1	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:156592712G>C	ENST00000302938.4	-	1	563	c.468C>G	c.(466-468)ccC>ccG	p.P156P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	156						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTCAGAAGAGGGACACAACT	0.468													9	88					0	0	0	0	C	156592712	G	C	156592712	2	2	456	1	0	0	0	0	0	0	0	1	5654	987	35	4		4	FAM71B	5	156592712	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	3210892	156592712	24322548	68	88737											
OR2J3	442186	broad.mit.edu	37	chr6	29080141	29080141	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtaagtggttttaccaaCtcagcacttcattcctcctt	8	15	7	11	0	2	0	2	0	0	0	4	0	4	0	3	2	3	3	3	2	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:29080141C>G	ENST00000377169.1	+	1	474	c.474C>G	c.(472-474)aaC>aaG	p.N158K		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GTTTTACCAACTCAGCACTTC	0.493													10	207					0	0	0	0	G	29080141	C	G	29080141	3	3	456	1	0	0	0	0	1	0	0	0	11075	564	20	4	476	4	OR2J3	6	29080141	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		29080141	142034926	69	88738											
OR2H1	26716	broad.mit.edu	37	chr6	29429951	29429951	+	Frame_Shift_Del	DEL	C	C	-																															cactatgccaccatcatccaCccccgcctgtgctggcagct																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:29429951delC	ENST00000377136.1	+	4	870	c.405delC	c.(403-405)cafs	p.H135fs	OR2H1_ENST00000396792.2_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000377132.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000377133.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Frame_Shift_Del_p.H135fs			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CCATCATCCACCCCCGCCTGT	0.597													24	203	---	---	---	---					-	29429951	C	-	29429951	7	5	456	1	0	1	0	1	0	0	0	0	11072	506	18	0	407	0	OR2H1	6	29429951	Frame_Shift_Del	DEL	C	TCGA-MZ-A7D7-01A-21D-A34J-08	349810	29429951	141685116	70	88739											
NT5E	4907	broad.mit.edu	37	chr6	86197162	86197162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggctcctctcaatcatgCcgctttagagaatgcaacat	11	11	8	11	1	2	1	2	0	1	1	4	3	3	1	2	1	3	3	2	1	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	353					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413													5	144					0	0	0	0	T	86197162	C	T	86197162	2	4	456	1	0	0	0	0	0	0	0	1	10764	747	26	4		4	NT5E	6	86197162	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	56767211	86197162	84917905	71	88740											
AIM1	202	broad.mit.edu	37	chr6	106973153	106973153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttgcaggtagtgatatAtagtgaacccgacgtctctg	9	14	10	8	2	2	2	0	2	2	0	3	3	2	2	1	1	2	2	1	1	5	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:106973153A>G	ENST00000369066.3	+	4	3567	c.3080A>G	c.(3079-3081)tAt>tGt	p.Y1027C		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1027	Beta/gamma crystallin 'Greek key' 1.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTAGTGATATATAGTGAACCC	0.388													82	231					0	0	0	0	G	106973153	A	G	106973153	3	3	456	1	0	0	0	0	1	0	0	0	430	449	16	5	3094	5	AIM1	6	106973153	Missense_Mutation	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	20775991	106973153	64141914	72	88741											
PHACTR2	9749	broad.mit.edu	37	chr6	144093548	144093548	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggacgggcctatcttgtaCaccgatgatgaggacgaaga	11	8	13	9	4	1	3	0	2	1	1	2	7	1	5	2	3	1	1	2	3	3	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:144093548C>A	ENST00000427704.2	+	7	1483	c.1353C>A	c.(1351-1353)taC>taA	p.Y451*	PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.Y462*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.Y382*|PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.Y439*|PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.Y371*	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	451							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTATCTTGTACACCGATGATG	0.512													7	18					1.06961e-07	1.17611e-07	1	0	A	144093548	C	A	144093548	4	1	456	1	0	0	0	0	0	1	0	0	11882	489	17	4	1429	4	PHACTR2	6	144093548	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	37120395	144093548	27021519	73	88742											
PPIL4	85313	broad.mit.edu	37	chr6	149838518	149838518	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttactttatctttcaGaaccaaattaggtggtttat	10	17	8	6	0	2	1	1	0	1	1	2	1	2	1	1	3	2	2	1	3	6	8			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:149838518G>T	ENST00000340881.2	-	0	482				PPIL4_ENST00000253329.2_Missense_Mutation_p.L351M			Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TTATCTTTCAGAACCAAATTA	0.343													4	100					0.217242	0.217242	1	0	T	149838518	G	T	149838518	1	4	456	1	0	0	0	0	0	0	0	0	12405	933	33	2		2	PPIL4	6	149838518	Translation_Start_Site	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	5744970	149838518	21276549	74	88743											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152587	151152587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacttcgtgtgctgtgacagCctgaggccatttgtttccca	6	13	11	11	1	0	2	0	2	0	0	2	3	1	2	3	1	2	2	3	1	0	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:151152587C>T	ENST00000367328.1	+	16	2652	c.2340C>T	c.(2338-2340)agC>agT	p.S780S	PLEKHG1_ENST00000358517.2_Silent_p.S780S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	780					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCTGTGACAGCCTGAGGCCAT	0.552													13	42					0	0	0	0	T	151152587	C	T	151152587	2	4	456	1	0	0	0	0	0	0	0	1	12140	738	26	4		4	PLEKHG1	6	151152587	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1314069	151152587	19962480	75	88744											
IGF2BP3	10643	broad.mit.edu	37	chr7	23391151	23391151	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatttcatcagggatataGgctactttcaaggtgaaatt	12	13	9	7	0	3	1	3	1	0	0	3	2	3	2	1	3	1	1	1	3	5	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:23391151G>C	ENST00000258729.3	-	6	812	c.456C>G	c.(454-456)gcC>gcG	p.A152A	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	152	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CAGGGATATAGGCTACTTTCA	0.537													6	98					0	0	0	0	C	23391151	G	C	23391151	2	2	456	1	0	0	0	0	0	0	0	1	7628	987	35	4		4	IGF2BP3	7	23391151	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08		23391151	135747512	76	88745											
POM121	9883	broad.mit.edu	37	chr7	72413458	72413458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccgcatttggggccgctGaggggcagccaccgggggcc	5	4	18	14	3	0	1	0	1	0	0	0	1	0	1	5	6	2	3	5	6	0	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:72413458G>A	ENST00000395270.1	+	14	3172	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	POM121_ENST00000446813.1_Missense_Mutation_p.E711K|POM121_ENST00000257622.4_Missense_Mutation_p.E711K|POM121_ENST00000434423.2_Missense_Mutation_p.E976K|POM121_ENST00000358357.3_Missense_Mutation_p.E711K	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	976	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TGGGGCCGCTGAGGGGCAGCC	0.662													5	117					0	0	0	0	A	72413458	G	A	72413458	3	1	456	1	0	0	0	0	1	0	0	0	12311	1291	45	2	2169	2	POM121	7	72413458	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	49022307	72413458	86725205	77	88746											
SEMA3C	10512	broad.mit.edu	37	chr7	80447685	80447685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcccacagacatacaaaTgtgtgcgattgaaagtctga	14	9	8	10	1	1	3	0	2	1	1	2	4	2	3	1	0	2	0	1	0	3	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:80447685T>C	ENST00000265361.3	-	5	938	c.377A>G	c.(376-378)cAt>cGt	p.H126R	SEMA3C_ENST00000419255.2_Missense_Mutation_p.H126R|SEMA3C_ENST00000544525.1_Missense_Mutation_p.H144R|SEMA3C_ENST00000536800.1_Intron	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	126	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACATACAAATGTGTGCGATT	0.388													5	96					0	0	0	0	C	80447685	T	C	80447685	3	2	456	1	0	0	0	0	1	0	0	0	14113	1464	51	5	1934	5	SEMA3C	7	80447685	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	8034227	80447685	78690978	78	88747											
RUNDC3B	154661	broad.mit.edu	37	chr7	87329767	87329767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttggttatgaaagtcCtcgtagcttctgggactata	8	15	11	7	1	1	1	0	1	1	0	3	2	2	2	1	3	1	4	1	3	5	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:87329767C>T	ENST00000338056.3	+	4	731	c.320C>T	c.(319-321)cCt>cTt	p.P107L	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P90L|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P90L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	107	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TATGAAAGTCCTCGTAGCTTC	0.358													21	65					0	0	0	0	T	87329767	C	T	87329767	3	4	456	1	0	0	0	0	1	0	0	0	13830	681	24	4	334	4	RUNDC3B	7	87329767	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	6882082	87329767	71808896	79	88748											
AKAP9	10142	broad.mit.edu	37	chr7	91708996	91708996	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggacttagaacttaccCagtgttataaacaaataaaa	20	9	5	7	0	0	1	0	0	0	1	0	2	0	2	1	1	3	1	1	1	10	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:91708996C>T	ENST00000359028.2	+	32	7810	c.7585C>T	c.(7585-7587)Cag>Tag	p.Q2529*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q2529*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q2517*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2529	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAACTTACCCAGTGTTATAA	0.333			T	BRAF	papillary thyroid								13	87					0	0	0	0	T	91708996	C	T	91708996	4	4	456	1	0	0	0	0	0	1	0	0	459	595	21	4	7671	4	AKAP9	7	91708996	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	4379229	91708996	67429667	80	88749											
LMTK2	22853	broad.mit.edu	37	chr7	97821553	97821553	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcccagctcacggcgctCaggagcgttgaacttgagga	8	8	13	12	3	2	2	2	2	0	0	3	4	3	4	1	3	3	3	1	3	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:97821553C>G	ENST00000297293.5	+	11	2069	c.1776C>G	c.(1774-1776)ctC>ctG	p.L592L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	592					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCACGGCGCTCAGGAGCGTTG	0.527													11	82					0	0	0	0	G	97821553	C	G	97821553	2	3	456	1	0	0	0	0	0	0	0	1	8914	813	29	2		2	LMTK2	7	97821553	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	6112557	97821553	61317110	81	88750											
ZNF789	285989	broad.mit.edu	37	chr7	99084423	99084423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatgagcgaattctcacaaGagcaaagtcttatgaatgca	15	9	9	8	1	2	3	1	2	2	1	3	4	2	3	0	0	3	3	0	0	5	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:99084423G>C	ENST00000331410.5	+	5	860	c.590G>C	c.(589-591)aGa>aCa	p.R197T	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATTCTCACAAGAGCAAAGTCT	0.413													15	182					0	0	0	0	C	99084423	G	C	99084423	3	2	456	1	0	0	0	0	1	0	0	0	18253	942	33	2	646	2	ZNF789	7	99084423	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	1262870	99084423	60054240	82	88751											
OR2AE1	81392	broad.mit.edu	37	chr7	99474188	99474188	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatcgccatgtgaattaGggagttcacggatgccccca	11	8	11	11	2	1	2	1	1	0	1	2	4	1	4	3	2	1	1	3	2	3	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:99474188G>A	ENST00000316368.2	-	1	492	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ATGTGAATTAGGGAGTTCACG	0.507													4	130					0	0	0	0	A	99474188	G	A	99474188	2	1	456	1	0	0	0	0	0	0	0	1	11054	991	35	4		4	OR2AE1	7	99474188	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	389765	99474188	59664475	83	88752											
THAP5	168451	broad.mit.edu	37	chr7	108204694	108204694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataatcttgacgttttcttCagatagccagttttcctgct	8	18	6	9	1	3	2	1	1	2	1	4	2	4	2	2	0	2	3	2	0	3	9			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:108204694C>T	ENST00000415914.3	-	3	1282	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	THAP5_ENST00000313516.5_Missense_Mutation_p.E335K	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	377					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ACGTTTTCTTCAGATAGCCAG	0.318													47	132					0	0	0	0	T	108204694	C	T	108204694	3	4	456	1	0	0	0	0	1	0	0	0	15941	835	29	2	62	2	THAP5	7	108204694	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	8730506	108204694	50933969	84	88753											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518332	113518332	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggttggctagccatggtagTaactgcattctctacagcaa	11	11	10	9	0	1	0	0	0	1	0	2	0	1	0	1	3	5	6	1	3	5	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:113518332T>A	ENST00000284601.3	-	4	2883	c.2815A>T	c.(2815-2817)Act>Tct	p.T939S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	939					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCCATGGTAGTAACTGCATTC	0.383													12	167					0	0	0	0	A	113518332	T	A	113518332	3	1	456	1	0	0	0	0	1	0	0	0	12447	1638	57	5	557	5	PPP1R3A	7	113518332	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	5313638	113518332	45620331	85	88754											
CAPZA2	830	broad.mit.edu	37	chr7	116550339	116550339	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatcactccttcaaccactCaagtggttggcatcttgaaa	12	11	6	12	0	4	1	3	1	1	0	5	1	5	1	2	2	1	2	2	2	4	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:116550339C>G	ENST00000458284.2	+	6	532	c.479C>G	c.(478-480)tCa>tGa	p.S160*	CAPZA2_ENST00000361183.2_Missense_Mutation_p.Q187E			P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	166					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TTCAACCACTCAAGTGGTTGG	0.328													3	55					0	0	0	0	G	116550339	C	G	116550339	4	3	456	1	0	0	0	0	0	1	0	0	2666	827	29	2	585	2	CAPZA2	7	116550339	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	3032007	116550339	42588324	86	88755											
MKRN1	23608	broad.mit.edu	37	chr7	140158912	140158912	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacagttctccccgtatcgGcactctcccactgcagcata	9	9	6	17	2	2	0	0	0	2	0	5	0	2	0	3	1	2	5	3	1	2	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:140158912G>A	ENST00000255977.2	-	4	890	c.666C>T	c.(664-666)tgC>tgT	p.C222C	MKRN1_ENST00000474576.1_Silent_p.C158C|MKRN1_ENST00000443720.2_Silent_p.C222C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000480552.1_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	222							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCCCGTATCGGCACTCTCCCA	0.557													5	193					0	0	0	0	A	140158912	G	A	140158912	2	1	456	1	0	0	0	0	0	0	0	1	9675	1195	42	4		4	MKRN1	7	140158912	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	23608573	140158912	18979751	87	88756											
ZNF746	155061	broad.mit.edu	37	chr7	149171598	149171598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatcaggaggtgcgggCggcgtcgggagtggctggcc	6	5	22	8	4	1	0	1	0	0	0	2	3	1	3	1	8	1	1	1	8	1	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:149171598C>T	ENST00000340622.3	-	7	2092	c.1812G>A	c.(1810-1812)ccG>ccA	p.P604P	ZNF746_ENST00000458143.2_Silent_p.P605P			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	604					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGGTGCGGGCGGCGTCGGGA	0.667													4	11					0	0	0	0	T	149171598	C	T	149171598	2	4	456	1	0	0	0	0	0	0	0	1	18223	755	27	1		1	ZNF746	7	149171598	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	9012686	149171598	9967065	88	88757											
ESYT2	57488	broad.mit.edu	37	chr7	158552833	158552833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggaacctcgtccagagtGaaccactgaagagaaaaaat	16	7	10	8	1	0	4	0	2	0	2	2	6	1	5	3	1	2	0	3	1	6	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:158552833G>A	ENST00000251527.5	-	12	1448	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	489	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CGTCCAGAGTGAACCACTGAA	0.438													5	90					0	0	0	0	A	158552833	G	A	158552833	2	1	456	1	0	0	0	0	0	0	0	1	5303	1281	45	2		2	ESYT2	7	158552833	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	9381235	158552833	585830	89	88758											
TACC1	6867	broad.mit.edu	37	chr8	38681515	38681515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggtgcatcaggactactGaacaagtgaaatttctctgt	11	13	10	7	0	2	2	1	2	1	0	3	3	2	3	0	2	3	2	0	2	4	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:38681515G>A	ENST00000379931.3	+	4	1778	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	TACC1_ENST00000330691.6_Missense_Mutation_p.E29K|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000317827.4_Intron|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	464	SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGGACTACTGAACAAGTGAA	0.438													9	210					0	0	0	0	A	38681515	G	A	38681515	3	1	456	1	0	0	0	0	1	0	0	0	15592	1305	45	2		2	TACC1	8	38681515	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08		38681515	107682507	90	88759											
ADAM9	8754	broad.mit.edu	37	chr8	38871556	38871556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatcactgaccatcccaaTatacaggtaatgtatttttc	13	15	4	9	0	1	1	1	1	0	0	3	1	2	1	2	1	1	2	2	1	6	7			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:38871556T>C	ENST00000487273.2	+	4	405	c.327T>C	c.(325-327)aaT>aaC	p.N109N	ADAM9_ENST00000466936.1_Silent_p.N109N|ADAM9_ENST00000481513.1_Silent_p.N109N	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	109				Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACCATCCCAATATACAGGTAA	0.328													14	160					0	0	0	0	C	38871556	T	C	38871556	2	2	456	1	0	0	0	0	0	0	0	1	253	1403	49	5		5	ADAM9	8	38871556	Silent	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	190041	38871556	107492466	91	88760											
RP1	6101	broad.mit.edu	37	chr8	55538911	55538911	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagtttatttcatgtattTaacatccttgagcaaaaacc	16	14	4	7	0	1	1	1	1	0	0	2	1	2	1	2	0	3	3	2	0	7	7			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:55538911T>C	ENST00000220676.1	+	4	2617	c.2469T>C	c.(2467-2469)ttT>ttC	p.F823F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	823					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCATGTATTTAACATCCTTG	0.328													6	138					0	0	0	0	C	55538911	T	C	55538911	2	2	456	1	0	0	0	0	0	0	0	1	13617	1751	61	5		5	RP1	8	55538911	Silent	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	16667355	55538911	90825111	92	88761											
TTPA	7274	broad.mit.edu	37	chr8	63978585	63978585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtttctacctcctgtaCaataagctcggatgtgatta	10	14	8	9	1	1	2	0	2	1	0	3	3	2	3	2	1	3	3	2	1	5	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:63978585C>A	ENST00000260116.4	-	3	461	c.430G>T	c.(430-432)Gta>Tta	p.V144L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	144	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	ACCTCCTGTACAATAAGCTCG	0.393													8	102					0.000157383	0.000165187	1	0	A	63978585	C	A	63978585	3	1	456	1	0	0	0	0	1	0	0	0	16832	478	17	4	418	4	TTPA	8	63978585	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	8439674	63978585	82385437	93	88762											
SGK3	23678	broad.mit.edu	37	chr8	67740902	67740902	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacagctacactctacctCacagaacatcaacctgggac	13	8	5	15	0	4	1	3	0	1	1	4	2	4	2	2	1	5	1	2	1	4	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:67740902C>G	ENST00000396596.1	+	7	645	c.431C>G	c.(430-432)tCa>tGa	p.S144*	C8orf44-SGK3_ENST00000519289.1_Nonsense_Mutation_p.S144*|SGK3_ENST00000521198.2_Nonsense_Mutation_p.S144*|SGK3_ENST00000345714.4_Nonsense_Mutation_p.S144*|SGK3_ENST00000520976.1_Nonsense_Mutation_p.S144*|SGK3_ENST00000522398.1_Nonsense_Mutation_p.S144*	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	144					cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACTCTACCTCACAGAACATC	0.323													20	218					0	0	0	0	G	67740902	C	G	67740902	4	3	456	1	0	0	0	0	0	1	0	0	14299	838	29	2	453	2	SGK3	8	67740902	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	3762317	67740902	78623120	94	88763											
RIPK2	8767	broad.mit.edu	37	chr8	90782102	90782102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caattatctatatgccacctGaaaactatgaacctggacaa	16	10	5	10	0	1	2	0	2	1	0	1	3	1	3	3	1	3	0	3	1	9	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:90782102G>C	ENST00000220751.4	+	4	900	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	RIPK2_ENST00000540020.1_Missense_Mutation_p.E59Q	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	196	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|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	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATGCCACCTGAAAACTATGA	0.418													56	244					0	0	0	0	C	90782102	G	C	90782102	3	2	456	1	0	0	0	0	1	0	0	0	13466	1291	45	2	600	2	RIPK2	8	90782102	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	23041200	90782102	55581920	95	88764											
ZFAT	57623	broad.mit.edu	37	chr8	135621016	135621016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaggtgtctgctgaatggcGtattcctggtagcctctccg	6	13	12	10	2	2	1	0	1	2	0	4	1	3	1	3	3	2	3	3	3	4	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:135621016G>A	ENST00000520727.1	-	6	1004	c.705C>T	c.(703-705)taC>taT	p.Y235Y	ZFAT_ENST00000520214.1_Silent_p.Y235Y|ZFAT_ENST00000377838.3_Silent_p.Y247Y|ZFAT_ENST00000520356.1_Silent_p.Y235Y|ZFAT_ENST00000523399.1_Silent_p.Y185Y|ZFAT_ENST00000429442.2_Silent_p.Y235Y	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCTGAATGGCGTATTCCTGGT	0.507													44	119					0	0	0	0	A	135621016	G	A	135621016	2	1	456	1	0	0	0	0	0	0	0	1	17727	1140	40	1		1	ZFAT	8	135621016	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	44838914	135621016	10743006	96	88765											
PCSK5	5125	broad.mit.edu	37	chr9	78686709	78686709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagttagcttcaacccccaGcacgtgcacatttacagcgc	10	9	7	15	2	2	0	2	0	0	0	2	0	2	0	2	0	6	4	2	0	3	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:78686709G>C	ENST00000545128.1	+	7	1327	c.789G>C	c.(787-789)caG>caC	p.Q263H	PCSK5_ENST00000376767.3_Missense_Mutation_p.Q263H|PCSK5_ENST00000376752.4_Missense_Mutation_p.Q263H	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	263	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAACCCCCAGCACGTGCACA	0.542													11	187					0	0	0	0	C	78686709	G	C	78686709	3	2	456	1	0	0	0	0	1	0	0	0	11674	962	34	4	815	4	PCSK5	9	78686709	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08		78686709	62526722	97	88766											
ZCCHC6	79670	broad.mit.edu	37	chr9	88919847	88919847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccattgataaaagccttcAttataaaatttgtcactaaa	17	14	3	7	0	2	1	2	1	0	0	2	1	2	1	2	0	2	0	2	0	8	8			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:88919847A>C	ENST00000277141.6	-	25	4193	c.1769T>G	c.(1768-1770)aTg>aGg	p.M590R	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.M1263R|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.M1065R|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.M201R|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.M1301R			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1301	PAP-associated 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAAAGCCTTCATTATAAAATT	0.368													6	56					0	0	0	0	C	88919847	A	C	88919847	3	2	456	1	0	0	0	0	1	0	0	0	17687	217	8	5	601	5	ZCCHC6	9	88919847	Missense_Mutation	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	10233138	88919847	52293584	98	88767											
ZCCHC6	79670	broad.mit.edu	37	chr9	88932136	88932136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagtttacagaggtacctGaatgttttctgaggactctt	12	14	9	6	0	2	3	0	2	2	1	2	4	2	4	1	2	2	3	1	2	5	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:88932136G>A	ENST00000277141.6	-	18	3563	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S1091L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S855L|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.S29L|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S1091L			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1091					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGAGGTACCTGAATGTTTTCT	0.363													8	124					0	0	0	0	A	88932136	G	A	88932136	3	1	456	1	0	0	0	0	1	0	0	0	17687	1294	45	2	1259	2	ZCCHC6	9	88932136	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	12289	88932136	52281295	99	88768											
STX17	55014	broad.mit.edu	37	chr9	102713369	102713369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatccaatatccgagaaattGagaaactttgtttgaaagtc	15	12	8	6	1	0	3	0	2	0	2	3	6	2	3	2	0	1	1	2	0	5	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:102713369G>C	ENST00000259400.6	+	4	353	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	STX17_ENST00000534052.1_Missense_Mutation_p.E73Q|STX17_ENST00000525640.1_Missense_Mutation_p.E73Q|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	73					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCGAGAAATTGAGAAACTTTG	0.333													16	55					0	0	0	0	C	102713369	G	C	102713369	3	2	456	1	0	0	0	0	1	0	0	0	15430	1291	45	2	227	2	STX17	9	102713369	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	13781233	102713369	38500062	100	88769											
C9orf43	257169	broad.mit.edu	37	chr9	116185655	116185655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatcagtccgcaggaacacGagtaggaacaccagggatga	16	4	12	9	2	1	1	1	1	0	0	2	5	2	4	2	3	2	2	2	3	4	1	rs148106673	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:116185655G>A	ENST00000288462.4	+	7	979	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R178Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	178										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GCAGGAACACGAGTAGGAACA	0.473													5	68					0	0	0	0	A	116185655	G	A	116185655	3	1	456	1	0	0	0	0	1	0	0	0	2508	1058	37	1	555	1	C9orf43	9	116185655	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	13472286	116185655	25027776	101	88770											
ZBTB34	403341	broad.mit.edu	37	chr9	129641824	129641824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagggtcagccattccgagCccacaaagcagtccttgctg	9	8	10	14	1	2	0	2	0	0	0	4	1	4	0	4	1	4	2	4	1	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:129641824C>A	ENST00000319119.4	+	2	231	c.146C>A	c.(145-147)gCc>gAc	p.A49D	ZBTB34_ENST00000373452.2_Missense_Mutation_p.A45D	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	45	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCATTCCGAGCCCACAAAGCA	0.502													71	115					3.58576e-35	4.15883e-35	1	0	A	129641824	C	A	129641824	3	1	456	1	0	0	0	0	1	0	0	0	17632	739	26	4	136	4	ZBTB34	9	129641824	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	13456169	129641824	11571607	102	88771											
SPTAN1	6709	broad.mit.edu	37	chr9	131348215	131348215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacccattgtgggcagcactGactatggcaaggacgaagac	13	6	12	10	1	0	2	0	1	0	1	0	4	0	3	1	3	2	3	1	3	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:131348215G>A	ENST00000358161.5	+	19	2862	c.2749G>A	c.(2749-2751)Gac>Aac	p.D917N	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D917N|SPTAN1_ENST00000372731.4_Missense_Mutation_p.D917N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	917					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGCAGCACTGACTATGGCAA	0.567													9	118					0	0	0	0	A	131348215	G	A	131348215	3	1	456	1	0	0	0	0	1	0	0	0	15207	1290	45	2	2819	2	SPTAN1	9	131348215	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	1706391	131348215	9865216	103	88772											
LAMC3	10319	broad.mit.edu	37	chr9	133957544	133957544	+	Silent	SNP	G	G	T																															aggactctgctggctgatctGgaaggtacgtgagtccagct																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:133957544G>T	ENST00000361069.4	+	24	4159	c.4026G>T	c.(4024-4026)ctG>ctT	p.L1342L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1342	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGGCTGATCTGGAAGGTACGT	0.617													7	17					0.000157383	0.000165187	1	0	T	133957544	G	T	133957544	2	4	456	1	0	0	0	0	0	0	0	1	8669	1335	47	4		4	LAMC3	9	133957544	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	2609329	133957544	7255887	104	88773	1097	2									
LAMC3	10319	broad.mit.edu	37	chr9	133957545	133957545	+	Nonsense_Mutation	SNP	G	G	T																															ggactctgctggctgatctgGaaggtacgtgagtccagctg																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:133957545G>T	ENST00000361069.4	+	24	4160	c.4027G>T	c.(4027-4029)Gaa>Taa	p.E1343*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1343	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTGATCTGGAAGGTACGTG	0.622													6	17					8.12818e-05	8.63832e-05	1	0	T	133957545	G	T	133957545	4	4	456	1	0	0	0	0	0	1	0	0	8669	1175	41	2	4121	2	LAMC3	9	133957545	Nonsense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	1	133957545	7255886	105	88774	1097	2									
C9orf171	389799	broad.mit.edu	37	chr9	135374895	135374895	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttgctctaccgtcagctCaatgacatccgcatcagtga	11	10	7	13	2	4	2	3	2	1	0	5	2	5	2	2	0	4	3	2	0	3	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:135374895C>G	ENST00000343036.2	+	4	588	c.540C>G	c.(538-540)ctC>ctG	p.L180L	C9orf171_ENST00000393216.2_Silent_p.L144L|C9orf171_ENST00000393215.3_Silent_p.L144L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	180										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						ACCGTCAGCTCAATGACATCC	0.602													35	131					0	0	0	0	G	135374895	C	G	135374895	2	3	456	1	0	0	0	0	0	0	0	1	2495	813	29	2		2	C9orf171	9	135374895	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1417350	135374895	5838536	106	88775											
ABCA2	20	broad.mit.edu	37	chr9	139902402	139902402	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagagcgtgtccgtgttGaaggacagctgggcctgtgc	7	8	16	10	2	0	2	0	1	0	1	1	3	1	3	2	2	4	3	2	2	1	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:139902402G>C	ENST00000265662.5	-	49	7437	c.7290C>G	c.(7288-7290)ttC>ttG	p.F2430L	ABCA2_ENST00000341511.6_Missense_Mutation_p.F2430L|ABCA2_ENST00000371605.3_Missense_Mutation_p.F2429L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2429					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTCCGTGTTGAAGGACAGCT	0.662													3	43					0	0	0	0	C	139902402	G	C	139902402	3	2	456	1	0	0	0	0	1	0	0	0	32	1281	45	2	24	2	ABCA2	9	139902402	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	4527507	139902402	1311029	107	88776											
ANK3	288	broad.mit.edu	37	chr10	61898790	61898790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaatcatcacccaattcCttaaggtcctgtggcccaag	11	9	9	12	0	2	0	2	0	0	0	4	1	4	1	4	3	0	0	4	3	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:61898790C>T	ENST00000280772.1	-	24	2861	c.2670G>A	c.(2668-2670)aaG>aaA	p.K890K	ANK3_ENST00000503366.1_Silent_p.K891K|ANK3_ENST00000373827.2_Silent_p.K884K|ANK3_ENST00000460468.1_Silent_p.K54K|ANK3_ENST00000355288.2_Silent_p.K24K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	890					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACCCAATTCCTTAAGGTCCT	0.483													35	110					0	0	0	0	T	61898790	C	T	61898790	2	4	456	1	0	0	0	0	0	0	0	1	622	680	24	4		4	ANK3	10	61898790	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		61898790	73635957	108	88777											
LDB3	11155	broad.mit.edu	37	chr10	88478496	88478496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaggaagtaatgcatGccttgagacagacatggcac	12	7	10	12	0	0	2	0	1	0	2	1	4	1	3	3	2	2	3	3	2	2	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:88478496G>C	ENST00000429277.2	+	12	2030	c.1885G>C	c.(1885-1887)Gcc>Ccc	p.A629P	LDB3_ENST00000361373.4_Missense_Mutation_p.A624P|LDB3_ENST00000458213.2_Missense_Mutation_p.A514P|LDB3_ENST00000352360.5_Missense_Mutation_p.A367P|LDB3_ENST00000263066.6_Missense_Mutation_p.A514P	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	624	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGTAATGCATGCCTTGAGACA	0.587													44	87					0	0	0	0	C	88478496	G	C	88478496	3	2	456	1	0	0	0	0	1	0	0	0	8750	1319	46	4	2248	4	LDB3	10	88478496	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	26579706	88478496	47056251	109	88778											
AGAP11	119385	broad.mit.edu	37	chr10	88768892	88768892	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccacgacgtatgaggagCgggatgcctgggtccaagcc	10	5	15	11	3	0	1	0	1	0	0	1	4	1	3	4	3	4	1	4	3	3	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:88768892C>T	ENST00000444431.1	+	0	3492				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GTATGAGGAGCGGGATGCCTG	0.552													10	193					0	0	0	0	T	88768892	C	T	88768892	1	4	456	0	1	0	0	0	0	0	0	0	367	759	27	1		1	AGAP11	10	88768892	RNA	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	290396	88768892	46765855	110	88779											
LDB1	8861	broad.mit.edu	37	chr10	103871212	103871212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacatccctatccagcatgGtgccgggatggaagggggga	9	6	15	11	1	0	0	0	0	0	0	2	3	2	3	4	6	2	1	4	6	2	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:103871212G>A	ENST00000425280.1	-	2	449	c.107C>T	c.(106-108)aCc>aTc	p.T36I	LDB1_ENST00000361198.5_5'UTR|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	36					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ATCCAGCATGGTGCCGGGATG	0.577													20	61					0	0	0	0	A	103871212	G	A	103871212	3	1	456	1	0	0	0	0	1	0	0	0	8748	1261	44	4	1168	4	LDB1	10	103871212	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	15102320	103871212	31663535	111	88780											
DCLRE1A	9937	broad.mit.edu	37	chr10	115610123	115610123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttggatatgagtagaaatCttttcactggcttcagtcag	10	15	10	6	0	4	2	3	1	1	1	4	3	4	3	0	2	0	3	0	2	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:115610123C>G	ENST00000361384.2	-	2	1658	c.741G>C	c.(739-741)aaG>aaC	p.K247N	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K247N	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	247					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GAGTAGAAATCTTTTCACTGG	0.378								Other identified genes with known or suspected DNA repair function					22	95					0	0	0	0	G	115610123	C	G	115610123	3	3	456	1	0	0	0	0	1	0	0	0	4326	912	32	2	2413	2	DCLRE1A	10	115610123	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	11738911	115610123	19924624	112	88781											
VWA2	340706	broad.mit.edu	37	chr10	116046244	116046244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaatccctgagctgcaggGgaagctgtgcagccggcagc	9	5	14	13	1	0	1	0	1	0	0	1	2	1	2	3	3	6	5	3	3	2	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:116046244G>T	ENST00000603594.1	+	11	1865	c.1544G>T	c.(1543-1545)gGg>gTg	p.G515V	VWA2_ENST00000392982.3_Missense_Mutation_p.G515V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	515	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GAGCTGCAGGGGAAGCTGTGC	0.622													5	46					3.59834e-05	3.84024e-05	1	0	T	116046244	G	T	116046244	3	4	456	1	0	0	0	0	1	0	0	0	17335	1232	43	4	1582	4	VWA2	10	116046244	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	436121	116046244	19488503	113	88782											
OR51G2	81282	broad.mit.edu	37	chr11	4936675	4936675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagagacccaggtcaatCagagccagcatggacaggaa	15	3	14	9	0	2	2	2	0	0	2	2	6	2	5	2	4	2	1	2	4	2	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:4936675C>T	ENST00000322013.3	-	1	247	c.219G>A	c.(217-219)ctG>ctA	p.L73L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGGTCAATCAGAGCCAGCA	0.483													7	30					0	0	0	0	T	4936675	C	T	4936675	2	4	456	1	0	0	0	0	0	0	0	1	11170	813	29	2		2	OR51G2	11	4936675	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		4936675	130069841	114	88783											
PRMT3	10196	broad.mit.edu	37	chr11	20424503	20424503	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctaccgagatttcatataCcaaaatccacatatcttcaa	16	11	3	11	1	3	1	2	0	1	1	4	2	4	1	3	0	3	1	3	0	7	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:20424503C>A	ENST00000331079.6	+	8	961	c.744C>A	c.(742-744)taC>taA	p.Y248*	PRMT3_ENST00000437750.2_Nonsense_Mutation_p.Y186*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	248							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ATTTCATATACCAAAATCCAC	0.353													30	64					5.8336e-16	6.64455e-16	1	0	A	20424503	C	A	20424503	4	1	456	1	0	0	0	0	0	1	0	0	12618	518	18	4	774	4	PRMT3	11	20424503	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	15487828	20424503	114582013	115	88784											
OR4A47	403253	broad.mit.edu	37	chr11	48510886	48510886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttttctgtgacatgtatcCcttattgaaactggtctgca	8	18	7	8	0	2	2	0	2	2	0	3	2	3	2	1	1	2	2	1	1	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:48510886C>A	ENST00000446524.1	+	1	618	c.542C>A	c.(541-543)cCc>cAc	p.P181H		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GACATGTATCCCTTATTGAAA	0.443													12	291					1.05317e-09	1.17327e-09	1	0	A	48510886	C	A	48510886	3	1	456	1	0	0	0	0	1	0	0	0	11113	623	22	4	544	4	OR4A47	11	48510886	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	28086383	48510886	86495630	116	88785											
OR5R1	219479	broad.mit.edu	37	chr11	56185586	56185586	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaatcaacccaagattGcccagcactgtgaccagata	16	7	7	11	0	1	3	1	1	0	2	1	3	1	3	3	0	3	2	3	0	5	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:56185586G>T	ENST00000312253.1	-	1	122	c.123C>A	c.(121-123)ggC>ggA	p.G41G		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ACCCAAGATTGCCCAGCACTG	0.448													26	78					5.61819e-17	6.42802e-17	1	0	T	56185586	G	T	56185586	2	4	456	1	0	0	0	0	0	0	0	1	11251	1306	46	4		4	OR5R1	11	56185586	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	7674700	56185586	78820930	117	88786											
OR4D6	219983	broad.mit.edu	37	chr11	59224503	59224503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttacacgttcccgagagctgGagtttttcttgtttgtggtc	5	17	11	8	2	1	1	0	0	1	1	3	3	2	2	1	2	2	4	1	2	1	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:59224503G>C	ENST00000300127.2	+	1	93	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCGAGAGCTGGAGTTTTTCTT	0.473													5	186					0	0	0	0	C	59224503	G	C	59224503	3	2	456	1	0	0	0	0	1	0	0	0	11129	1175	41	2	72	2	OR4D6	11	59224503	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	3038917	59224503	75782013	118	88787											
GSTP1	2950	broad.mit.edu	37	chr11	67353607	67353607	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgactatgtgaaggcactGcccgggcaactgaagccttt	10	9	12	10	1	0	3	0	3	0	0	0	4	0	3	2	2	3	2	2	2	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:67353607G>T	ENST00000398606.3	+	6	618	c.369G>T	c.(367-369)ctG>ctT	p.L123L	GSTP1_ENST00000398603.1_Intron|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	123	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TGAAGGCACTGCCCGGGCAAC	0.597													6	33					0.217242	0.217242	1	0	T	67353607	G	T	67353607	2	4	456	1	0	0	0	0	0	0	0	1	6894	1306	46	4		4	GSTP1	11	67353607	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	8129104	67353607	67652909	119	88788											
SHANK2	22941	broad.mit.edu	37	chr11	70319147	70319147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttagactttccagccaatCggccacatctggtttagtcc	8	13	8	12	1	1	1	0	0	1	1	4	1	3	1	4	2	1	2	4	2	3	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:70319147C>T	ENST00000338508.4	-	33	5379	c.5380G>A	c.(5380-5382)Gat>Aat	p.D1794N	SHANK2_ENST00000449833.2_Missense_Mutation_p.D1198N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D1197N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1414N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1414					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCAGCCAATCGGCCACATCT	0.483													7	494					0	0	0	0	T	70319147	C	T	70319147	3	4	456	1	0	0	0	0	1	0	0	0	14353	884	31	1	176	1	SHANK2	11	70319147	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	2965540	70319147	64687369	120	88789											
UVRAG	7405	broad.mit.edu	37	chr11	75851794	75851794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcaatccctgttcctaaGagacaaagctccatatttgg	12	11	8	10	0	0	1	0	0	0	1	3	2	3	1	3	1	2	3	3	1	4	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:75851794G>C	ENST00000356136.3	+	15	1678	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	UVRAG_ENST00000532130.1_Missense_Mutation_p.K107N|UVRAG_ENST00000533454.1_Missense_Mutation_p.K107N|UVRAG_ENST00000528420.1_Missense_Mutation_p.K378N|UVRAG_ENST00000531818.1_Missense_Mutation_p.K107N|UVRAG_ENST00000539288.1_Missense_Mutation_p.K107N|UVRAG_ENST00000538870.1_Missense_Mutation_p.K35N	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	479					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTGTTCCTAAGAGACAAAGCT	0.473													8	159					0	0	0	0	C	75851794	G	C	75851794	3	2	456	1	0	0	0	0	1	0	0	0	17204	933	33	2	1495	2	UVRAG	11	75851794	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	5532647	75851794	59154722	121	88790											
MAML2	84441	broad.mit.edu	37	chr11	95718743	95718743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccacatttcttctttggtCtttataatctggaggtggcc	6	16	9	10	0	4	0	0	0	4	0	4	1	4	1	2	4	0	0	2	4	2	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:95718743C>T	ENST00000524717.1	-	4	3691	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	803					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTTCTTTGGTCTTTATAATCT	0.333			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								7	34					0	0	0	0	T	95718743	C	T	95718743	3	4	456	1	0	0	0	0	1	0	0	0	9275	913	32	2	1071	2	MAML2	11	95718743	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	19866949	95718743	39287773	122	88791											
DYNC2H1	79659	broad.mit.edu	37	chr11	103058262	103058262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttaaaagatatcaacCtacctaaacttgataaatgg	17	12	5	7	0	1	2	1	1	0	1	1	2	1	2	2	1	4	1	2	1	10	7			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:103058262C>T	ENST00000375735.2	+	43	7231	c.7087C>T	c.(7087-7089)Cta>Tta	p.L2363L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L2363L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2363	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATATCAACCTACCTAAACT	0.363													34	62					0	0	0	0	T	103058262	C	T	103058262	2	4	456	1	0	0	0	0	0	0	0	1	4882	680	24	4		4	DYNC2H1	11	103058262	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	7339519	103058262	31948254	123	88792											
NCAPD3	23310	broad.mit.edu	37	chr11	134027841	134027841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctgactgcacgttttttCtgggcttccagaatttaaag	9	14	8	10	1	1	2	0	1	1	1	2	2	2	2	2	1	1	3	2	1	3	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:134027841C>T	ENST00000534548.2	-	31	4220	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1386					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CACGTTTTTTCTGGGCTTCCA	0.443													36	247					0	0	0	0	T	134027841	C	T	134027841	3	4	456	1	0	0	0	0	1	0	0	0	10276	922	32	2	360	2	NCAPD3	11	134027841	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	30969579	134027841	978675	124	88793											
VWF	7450	broad.mit.edu	37	chr12	6058331	6058331	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactggtcctgcacatcgttGatgtcaatggagtacatggc	9	11	11	10	1	1	1	1	1	0	0	3	2	2	2	1	3	2	3	1	3	2	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:6058331G>C	ENST00000261405.5	-	52	8546	c.8292C>G	c.(8290-8292)atC>atG	p.I2764M		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2764	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCACATCGTTGATGTCAATGG	0.567													27	47					0	0	0	0	C	6058331	G	C	6058331	3	2	456	1	0	0	0	0	1	0	0	0	17342	1280	45	2	153	2	VWF	12	6058331	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08		6058331	127793564	125	88794											
GPRC5A	9052	broad.mit.edu	37	chr12	13061550	13061550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagtctgaccaagctcGtccgggggaggaagcccctt	7	8	13	13	2	2	1	1	1	1	0	4	3	3	3	4	3	2	1	4	3	2	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:13061550G>A	ENST00000014914.5	+	2	1257	c.367G>A	c.(367-369)Gtc>Atc	p.V123I	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	123						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GACCAAGCTCGTCCGGGGGAG	0.562													73	235					0	0	0	0	A	13061550	G	A	13061550	3	1	456	1	0	0	0	0	1	0	0	0	6774	1145	40	1	369	1	GPRC5A	12	13061550	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	7003219	13061550	120790345	126	88795											
SYT10	341359	broad.mit.edu	37	chr12	33529823	33529823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgactatcaaaactggtcGcccggccaggtaactgaaag	12	8	10	11	2	1	2	1	2	0	0	2	2	1	2	2	3	2	1	2	3	5	3	rs34361405	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:33529823G>A	ENST00000228567.3	-	7	1810	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	SYT10_ENST00000535526.1_Missense_Mutation_p.A324V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	505			A -> V (in dbSNP:rs34361405).			cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.A505V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAAACTGGTCGCCCGGCCAGG	0.398													5	43					0	0	0	0	A	33529823	G	A	33529823	3	1	456	1	0	0	0	0	1	0	0	0	15557	1087	38	1	61	1	SYT10	12	33529823	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	20468273	33529823	100322072	127	88796											
ANKRD33	341405	broad.mit.edu	37	chr12	52284807	52284807	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggttccccagtccccGccagggagtccccagaggtc	5	6	11	19	1	0	1	0	0	0	1	4	2	3	2	9	3	0	1	9	3	0	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:52284807G>T	ENST00000301190.6	+	5	1304	c.1077G>T	c.(1075-1077)ccG>ccT	p.P359P	ANKRD33_ENST00000340970.4_Intron|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	235								p.P359P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCCAGTCCCCGCCAGGGAGTC	0.642													5	26					1.23904e-05	1.33922e-05	1	0	T	52284807	G	T	52284807	2	4	456	1	0	0	0	0	0	0	0	1	660	1074	38	3		3	ANKRD33	12	52284807	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	18754984	52284807	81567088	128	88797											
LYZ	4069	broad.mit.edu	37	chr12	69746053	69746053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgcaaagagggttgtcCgtgatccacaaggcattaga	11	10	12	8	1	0	3	0	1	0	2	2	3	2	3	2	2	1	3	2	2	3	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:69746053C>T	ENST00000261267.2	+	3	423	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	LYZ_ENST00000549690.1_Intron	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	119					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	p.R119C(1)		endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GAGGGTTGTCCGTGATCCACA	0.358													25	91					0	0	0	0	T	69746053	C	T	69746053	3	4	456	1	0	0	0	0	1	0	0	0	9195	652	23	1	365	1	LYZ	12	69746053	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	17461246	69746053	64105842	129	88798											
IKBIP	121457	broad.mit.edu	37	chr12	99019911	99019911	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagacactgctttcagcaTatcatcttccatattaaaca	13	14	3	11	0	4	1	3	0	1	1	5	1	5	1	1	0	3	2	1	0	4	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:99019911T>A	ENST00000299157.4	-	3	1304	c.931A>T	c.(931-933)Atg>Ttg	p.M311L	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	312					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GCTTTCAGCATATCATCTTCC	0.348													22	59					0	0	0	0	A	99019911	T	A	99019911	3	1	456	1	0	0	0	0	1	0	0	0	7662	1406	49	5	966	5	IKBIP	12	99019911	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	29273858	99019911	34831984	130	88799											
RFX4	5992	broad.mit.edu	37	chr12	107113760	107113760	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcaggagtttgaccatctCttggaggagcagtctcccat	9	12	10	10	0	3	1	1	1	2	0	5	4	3	4	2	3	1	2	2	3	1	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:107113760C>G	ENST00000392842.1	+	12	1575	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.L293L|RFX4_ENST00000357881.4_Silent_p.L396L|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	387	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TTGACCATCTCTTGGAGGAGC	0.488													5	89					0	0	0	0	G	107113760	C	G	107113760	2	3	456	1	0	0	0	0	0	0	0	1	13347	900	32	2		2	RFX4	12	107113760	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	8093849	107113760	26738135	131	88800											
EP400	57634	broad.mit.edu	37	chr12	132496061	132496063	+	In_Frame_Del	DEL	TTG	TTG	-																															aggtaattggggcccccatcTtgttgttgtgagaagttgta																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:132496061_132496063delTTG	ENST00000333577.4	+	17	3540_3542	c.3431_3433delTTG	c.(3430-3435)ctt>c	p.LV1144del	EP400_ENST00000330386.6_In_Frame_Del_p.LV1108del|EP400_ENST00000389562.2_In_Frame_Del_p.LV1107del|EP400_ENST00000332482.4_In_Frame_Del_p.LV1071del|EP400_ENST00000389561.2_In_Frame_Del_p.LV1108del			Q96L91	EP400_HUMAN	E1A binding protein p400	1144	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V1108L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCCCCATCTTGTTGTTGTGAG	0.453													9	132	---	---	---	---					-	132496063	TTG	-	132496061	7	5	456	1	0	1	0	1	0	0	0	0	5187	1609	56	0	3378	0	EP400	12	132496061	In_Frame_Del	DEL	TTG	TCGA-MZ-A7D7-01A-21D-A34J-08	25382301	132496061	1355834	132	88801											
HSPH1	10808	broad.mit.edu	37	chr13	31722148	31722148	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatcagaatagaaagcttcTagctcaaaaggcccccttct	13	9	8	11	0	4	2	2	0	2	2	4	3	4	3	2	2	2	2	2	2	6	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:31722148T>C	ENST00000320027.5	-	10	1670	c.1326A>G	c.(1324-1326)ctA>ctG	p.L442L	HSPH1_ENST00000380405.4_Silent_p.L442L|HSPH1_ENST00000429785.2_Silent_p.L261L|HSPH1_ENST00000445273.2_Silent_p.L444L|HSPH1_ENST00000380406.5_Silent_p.L401L	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	442					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AGAAAGCTTCTAGCTCAAAAG	0.388													63	207					0	0	0	0	C	31722148	T	C	31722148	2	2	456	1	0	0	0	0	0	0	0	1	7484	1509	53	5		5	HSPH1	13	31722148	Silent	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08		31722148	83447730	133	88802											
PCDH9	5101	broad.mit.edu	37	chr13	67801523	67801523	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggagggttatcatttacAtcggtgacattgatggtaac	11	14	11	5	1	1	2	1	2	0	0	2	3	1	3	0	4	2	2	0	4	4	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:67801523A>G	ENST00000544246.1	-	2	1741	c.1050T>C	c.(1048-1050)gaT>gaC	p.D350D	PCDH9_ENST00000328454.5_Silent_p.D350D|PCDH9_ENST00000377865.2_Silent_p.D350D|PCDH9_ENST00000377861.3_Silent_p.D350D|PCDH9_ENST00000456367.1_Silent_p.D350D	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	350	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCATTTACATCGGTGACAT	0.448													17	180					0	0	0	0	G	67801523	A	G	67801523	2	3	456	1	0	0	0	0	0	0	0	1	11589	214	8	5		5	PCDH9	13	67801523	Silent	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	36079375	67801523	47368355	134	88803											
EDNRB	1910	broad.mit.edu	37	chr13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-																															ttcacaggtcattagtgtatAaaaaaatgcagtgatggcca																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:78475267delA	ENST00000377211.4	-	5	1299	c.1147delT	c.(1147-1149)atfs	p.Y383fs	EDNRB_ENST00000446573.1_Frame_Shift_Del_p.Y293fs|EDNRB_ENST00000334286.5_Frame_Shift_Del_p.Y293fs	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	293			P -> L (in HSCR2; familial).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.Y293fs*3(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATTAGTGTATAAAAAAATGCA	0.343													21	91	---	---	---	---					-	78475267	A	-	78475267	7	5	456	1	0	1	0	1	0	0	0	0	4956	362	13	0	588	0	EDNRB	13	78475267	Frame_Shift_Del	DEL	A	TCGA-MZ-A7D7-01A-21D-A34J-08	10673744	78475267	36694611	135	88804											
DNAJC3	5611	broad.mit.edu	37	chr13	96375576	96375576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaaatcaaaagctgcacttCctgatttaactaaagtgatt	15	12	6	8	0	1	2	1	2	0	0	2	2	2	2	1	0	3	3	1	0	6	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:96375576C>T	ENST00000602402.1	+	3	391	c.274C>T	c.(274-276)Cct>Tct	p.P92S	DNAJC3_ENST00000376795.6_Missense_Mutation_p.P92S	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	92					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGCTGCACTTCCTGATTTAAC	0.348													11	138					0	0	0	0	T	96375576	C	T	96375576	3	4	456	1	0	0	0	0	1	0	0	0	4683	855	30	2	284	2	DNAJC3	13	96375576	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	17900309	96375576	18794302	136	88805											
RASA3	22821	broad.mit.edu	37	chr13	114780794	114780794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagacgcggtccacataCtgccgtaggttctcctgcaa	9	9	11	12	3	1	1	0	0	1	1	3	2	2	2	3	3	3	3	3	3	4	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:114780794C>T	ENST00000334062.7	-	14	1417	c.1296G>A	c.(1294-1296)caG>caA	p.Q432Q	RASA3_ENST00000389544.4_Silent_p.Q400Q	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	432	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GGTCCACATACTGCCGTAGGT	0.667													12	68					0	0	0	0	T	114780794	C	T	114780794	2	4	456	1	0	0	0	0	0	0	0	1	13144	564	20	4		4	RASA3	13	114780794	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	18405218	114780794	389084	137	88806											
DHRS4L2	317749	broad.mit.edu	37	chr14	24459415	24459415	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttcgccatcgcccggcgTttggcccaggacagggccca	5	6	14	16	4	0	0	0	0	0	0	2	1	0	1	4	5	0	2	4	5	0	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:24459415T>C	ENST00000335125.6	+	2	279	c.153T>C	c.(151-153)cgT>cgC	p.R51R	DHRS4L2_ENST00000558753.1_Silent_p.R51R|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000545240.1_Silent_p.R51R|DHRS4L2_ENST00000537912.1_Silent_p.R51R|DHRS4L2_ENST00000382755.4_Silent_p.R49R|DHRS4L2_ENST00000397071.1_Silent_p.R51R|DHRS4L2_ENST00000534993.1_5'UTR	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	23							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TCGCCCGGCGTTTGGCCCAGG	0.637													6	146					0	0	0	0	C	24459415	T	C	24459415	2	2	456	1	0	0	0	0	0	0	0	1	4531	1712	60	5		5	DHRS4L2	14	24459415	Silent	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08		24459415	82890125	138	88807											
SEC23A	10484	broad.mit.edu	37	chr14	39508284	39508284	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtgaagggttgacttttGaaaggaggaaacgggcctta	11	11	14	5	1	1	3	0	3	1	0	1	5	1	5	1	4	1	1	1	4	4	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:39508284G>C	ENST00000537403.1	-	15	2755	c.1553C>G	c.(1552-1554)tCa>tGa	p.S518*	SEC23A_ENST00000545328.2_Nonsense_Mutation_p.S691*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.S618*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.S720*			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	720					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTTGACTTTTGAAAGGAGGAA	0.328													10	147					0	0	0	0	C	39508284	G	C	39508284	4	2	456	1	0	0	0	0	0	1	0	0	14078	1294	45	2	146	2	SEC23A	14	39508284	Nonsense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	15048869	39508284	67841256	139	88808											
SEC23A	10484	broad.mit.edu	37	chr14	39536445	39536445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctttggtaaagactctttGaaaagtttgtttgaataagg	12	16	10	3	0	2	3	0	2	2	1	2	3	2	3	0	2	0	3	0	2	6	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:39536445G>C	ENST00000537403.1	-	6	1755	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	SEC23A_ENST00000545328.2_Missense_Mutation_p.Q358E|SEC23A_ENST00000536508.1_Missense_Mutation_p.Q261E|SEC23A_ENST00000307712.6_Missense_Mutation_p.Q387E			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	387					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGACTCTTTGAAAAGTTTGT	0.358													62	108					0	0	0	0	C	39536445	G	C	39536445	3	2	456	1	0	0	0	0	1	0	0	0	14078	1299	45	2	1182	2	SEC23A	14	39536445	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	28161	39536445	67813095	140	88809											
SYNE2	23224	broad.mit.edu	37	chr14	64595250	64595250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaatgaaatcagtgggcaGagtgttgctgaacagcttca	12	11	12	6	0	2	4	2	3	0	1	2	4	2	4	0	1	3	4	0	1	3	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:64595250G>C	ENST00000357395.3	+	75	14297	c.3153G>C	c.(3151-3153)caG>caC	p.Q1051H	SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1300H|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1051H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q4666H|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q4666H			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4666					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.Q4666H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGTGGGCAGAGTGTTGCTG	0.358													33	123					0	0	0	0	C	64595250	G	C	64595250	3	2	456	1	0	0	0	0	1	0	0	0	15537	933	33	2	14288	2	SYNE2	14	64595250	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	25058805	64595250	42754290	141	88810											
ADSSL1	122622	broad.mit.edu	37	chr14	105208336	105208336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttccccaccgagcagatCaacgtgagtccccagcccct	8	6	8	19	2	1	2	1	1	0	1	3	3	3	2	8	0	3	1	8	0	1	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:105208336C>G	ENST00000332972.5	+	9	1233	c.1074C>G	c.(1072-1074)atC>atG	p.I358M	ADSSL1_ENST00000330877.2_Missense_Mutation_p.I315M	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	315					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CCGAGCAGATCAACGTGAGTC	0.687													4	131					0	0	0	0	G	105208336	C	G	105208336	3	3	456	1	0	0	0	0	1	0	0	0	348	816	29	2	1304	2	ADSSL1	14	105208336	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	40613086	105208336	2141204	142	88811											
ZSCAN29	146050	broad.mit.edu	37	chr15	43656252	43656252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagcttcagcctcactGgtcccctggacggggcaaga	7	9	12	13	1	3	2	2	1	1	1	4	3	4	3	3	4	2	2	3	4	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:43656252G>A	ENST00000396976.2	-	4	1685	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	ZSCAN29_ENST00000562072.1_Intron|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	517					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGCCTCACTGGTCCCCTGGA	0.557													23	91					0	0	0	0	A	43656252	G	A	43656252	2	1	456	1	0	0	0	0	0	0	0	1	18327	1335	47	4		4	ZSCAN29	15	43656252	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08		43656252	58875140	143	88812											
PDIA3	2923	broad.mit.edu	37	chr15	44053674	44053674	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaccagcttcagtgcctctCaggactgaggaagaatttaa	12	9	11	9	0	2	2	2	1	1	1	3	5	2	5	2	3	2	1	2	3	3	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:44053674C>G	ENST00000300289.5	+	4	565	c.417C>G	c.(415-417)ctC>ctG	p.L139L	PDIA3_ENST00000538521.1_Silent_p.L119L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	139					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CAGTGCCTCTCAGGACTGAGG	0.363													3	63					0	0	0	0	G	44053674	C	G	44053674	2	3	456	1	0	0	0	0	0	0	0	1	11740	813	29	2		2	PDIA3	15	44053674	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	397422	44053674	58477718	144	88813											
FRMD5	84978	broad.mit.edu	37	chr15	44166378	44166378	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctctcccccaagggccTccacctctgtagcagttggg	6	9	10	16	0	3	0	1	0	2	0	5	0	4	0	5	2	2	4	5	2	2	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:44166378T>G	ENST00000417257.1	-	14	1594	c.1418A>C	c.(1417-1419)gAg>gCg	p.E473A	FRMD5_ENST00000484674.1_Missense_Mutation_p.E379A|FRMD5_ENST00000402883.1_Missense_Mutation_p.E473A	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	473						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CCCAAGGGCCTCCACCTCTGT	0.577													18	67					0	0	0	0	G	44166378	T	G	44166378	3	3	456	1	0	0	0	0	1	0	0	0	6101	1551	54	5	298	5	FRMD5	15	44166378	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	112704	44166378	58365014	145	88814											
USP8	9101	broad.mit.edu	37	chr15	50790834	50790834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaacaaaaattacagacatCtgtggacttcccgttagaaa	17	9	7	8	1	1	2	0	0	1	2	2	4	2	3	1	1	2	1	1	1	6	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:50790834C>G	ENST00000433963.1	+	20	3580	c.3080C>G	c.(3079-3081)tCt>tGt	p.S1027C	USP8_ENST00000425032.3_Missense_Mutation_p.S921C|USP8_ENST00000307179.4_Missense_Mutation_p.S1027C|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000396444.3_Missense_Mutation_p.S1027C	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1027					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTACAGACATCTGTGGACTTC	0.353													13	152					0	0	0	0	G	50790834	C	G	50790834	3	3	456	1	0	0	0	0	1	0	0	0	17185	913	32	2	3150	2	USP8	15	50790834	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	6624456	50790834	51740558	146	88815											
SH3GL3	6457	broad.mit.edu	37	chr15	84241424	84241424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccacttcagttactaCaagataaagatttaaaagag	17	12	6	6	0	1	4	1	1	0	3	2	4	2	4	1	0	2	1	1	0	7	7			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:84241424C>G	ENST00000324537.5	+	8	955	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	SH3GL3_ENST00000427482.2_Missense_Mutation_p.Q147E|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q147E|SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q155E			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	147	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TCAGTTACTACAAGATAAAGA	0.323													9	54					0	0	0	0	G	84241424	C	G	84241424	3	3	456	1	0	0	0	0	1	0	0	0	14340	479	17	4	457	4	SH3GL3	15	84241424	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	33450590	84241424	18289968	147	88816											
IDH2	3418	broad.mit.edu	37	chr15	90634788	90634788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggagggggcactaccttCtccttgatgaactgccagat	9	10	11	11	0	2	3	1	2	1	1	3	4	2	4	3	3	3	1	3	3	2	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:90634788C>T	ENST00000330062.3	-	2	317	c.204G>A	c.(202-204)gaG>gaA	p.E68E	IDH2_ENST00000559482.1_Silent_p.E68E|IDH2_ENST00000540499.2_Silent_p.E16E|IDH2_ENST00000539790.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	68					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GCACTACCTTCTCCTTGATGA	0.577			M		GBM								14	96					0	0	0	0	T	90634788	C	T	90634788	2	4	456	1	0	0	0	0	0	0	0	1	7548	912	32	2		2	IDH2	15	90634788	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	6393364	90634788	11896604	148	88817											
USP7	7874	broad.mit.edu	37	chr16	8998351	8998351	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcttctgagcctcgatccTtttctcttcttgtaatcgct	4	17	6	14	3	3	1	0	1	3	0	7	2	4	1	3	0	1	3	3	0	1	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:8998351T>C	ENST00000344836.4	-	15	1843	c.1645A>G	c.(1645-1647)Agg>Ggg	p.R549G	USP7_ENST00000381886.4_Missense_Mutation_p.R533G|USP7_ENST00000535863.1_Missense_Mutation_p.R450G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	549					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCCTCGATCCTTTTCTCTTCT	0.557													5	70					0	0	0	0	C	8998351	T	C	8998351	3	2	456	1	0	0	0	0	1	0	0	0	17184	1608	56	5	1731	5	USP7	16	8998351	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08		8998351	81356402	149	88818											
TEKT5	146279	broad.mit.edu	37	chr16	10729668	10729668	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccatgttggggcgccgggtCcggcactccagccttgtctg	3	10	14	14	3	1	0	0	0	1	0	4	0	4	0	5	4	1	2	5	4	0	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:10729668C>G	ENST00000283025.2	-	6	1265	c.1194G>C	c.(1192-1194)cgG>cgC	p.R398R	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	398					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGCGCCGGGTCCGGCACTCCA	0.622													14	174					0	0	0	0	G	10729668	C	G	10729668	2	3	456	1	0	0	0	0	0	0	0	1	15850	842	30	2		2	TEKT5	16	10729668	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1731317	10729668	79625085	150	88819											
GTF3C1	2975	broad.mit.edu	37	chr16	27480820	27480820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccccctacaccttcgtcCaagtcatcctcttcatcctc	6	13	3	19	1	3	0	2	0	1	0	8	0	6	0	6	0	2	0	6	0	2	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:27480820C>G	ENST00000356183.4	-	32	4881	c.4866G>C	c.(4864-4866)ttG>ttC	p.L1622F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1622F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1622	Asp/Glu-rich (acidic).					transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACCTTCGTCCAAGTCATCCT	0.592													20	55					0	0	0	0	G	27480820	C	G	27480820	3	3	456	1	0	0	0	0	1	0	0	0	6922	593	21	4	1487	4	GTF3C1	16	27480820	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	16751152	27480820	62873933	151	88820											
PRSS36	146547	broad.mit.edu	37	chr16	31155036	31155036	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtatccatgcctcataGgtagccacagcagtgaaaac	12	8	8	13	1	1	1	1	1	0	0	3	1	3	1	4	1	4	3	4	1	5	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:31155036G>C	ENST00000268281.4	-	7	901	c.843C>G	c.(841-843)acC>acG	p.T281T	PRSS36_ENST00000569305.1_Silent_p.T281T|PRSS36_ENST00000418068.2_Silent_p.T281T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	281	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						ATGCCTCATAGGTAGCCACAG	0.612													19	51					0	0	0	0	C	31155036	G	C	31155036	2	2	456	1	0	0	0	0	0	0	0	1	12704	987	35	4		4	PRSS36	16	31155036	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	3674216	31155036	59199717	152	88821											
ZNF319	57567	broad.mit.edu	37	chr16	58030938	58030938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgccgcagcagctcggcaGattggtcaaagcctttctgg	7	10	13	11	2	2	1	1	0	1	1	3	1	2	1	2	3	4	4	2	3	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:58030938G>A	ENST00000299237.2	-	2	1854	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGCTCGGCAGATTGGTCAAA	0.652													12	71					0	0	0	0	A	58030938	G	A	58030938	3	1	456	1	0	0	0	0	1	0	0	0	17932	942	33	2	520	2	ZNF319	16	58030938	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	26875902	58030938	32323815	153	88822											
RLTPR	146206	broad.mit.edu	37	chr16	67685742	67685742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagatgccttcactaGgctcaggtaggctggatggg	8	9	15	9	0	2	1	2	0	0	1	2	2	2	2	1	5	2	5	1	5	3	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:67685742G>A	ENST00000334583.6	+	25	2910	c.2582G>A	c.(2581-2583)aGg>aAg	p.R861K	RLTPR_ENST00000545661.1_Missense_Mutation_p.R825K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	861										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCTTCActaggctcaggtag	0.637													11	28					0	0	0	0	A	67685742	G	A	67685742	3	1	456	1	0	0	0	0	1	0	0	0	13479	1000	35	4	2680	4	RLTPR	16	67685742	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	9654804	67685742	22669011	154	88823											
CLEC18C	283971	broad.mit.edu	37	chr16	70208872	70208872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaacaggaaggagagtttCttgctcctctccctgcacaa	10	10	9	12	0	2	2	0	1	2	1	4	4	3	3	2	2	3	3	2	2	3	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:70208872C>G	ENST00000569347.2	+	2	401	c.147C>G	c.(145-147)ttC>ttG	p.F49L	CLEC18C_ENST00000561612.1_3'UTR|CLEC18C_ENST00000541793.2_Missense_Mutation_p.F49L|CLEC18C_ENST00000536907.2_Missense_Mutation_p.F49L|CLEC18C_ENST00000314151.8_Missense_Mutation_p.F49L	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						AGGAGAGTTTCTTGCTCCTCT	0.637													10	70					0	0	0	0	G	70208872	C	G	70208872	3	3	456	1	0	0	0	0	1	0	0	0	3534	912	32	2	153	2	CLEC18C	16	70208872	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	2523130	70208872	20145881	155	88824											
SF3B3	23450	broad.mit.edu	37	chr16	70602960	70602960	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtaggtgaggctcccaccTaacaccaatgatgaagtaga	13	9	10	9	0	0	4	0	3	0	1	1	4	1	4	3	2	1	3	3	2	5	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:70602960T>C	ENST00000302516.5	+	23	3391	c.3180T>C	c.(3178-3180)ccT>ccC	p.P1060P		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1060					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGCTCCCACCTAACACCAATG	0.547													3	33					0	0	0	0	C	70602960	T	C	70602960	2	2	456	1	0	0	0	0	0	0	0	1	14239	1509	53	5		5	SF3B3	16	70602960	Silent	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	394088	70602960	19751793	156	88825											
AP1G1	164	broad.mit.edu	37	chr16	71805057	71805057	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatacatccaaattacattAccatggttcttctcattcaa	14	14	3	10	0	3	0	2	0	2	0	5	1	4	0	2	1	3	1	2	1	6	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:71805057A>G	ENST00000299980.4	-	5	1007		c.e5+1		AP1G1_ENST00000569748.1_Splice_Site|AP1G1_ENST00000433195.2_Splice_Site|AP1G1_ENST00000393512.3_Splice_Site|AP1G1_ENST00000423132.2_Splice_Site	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AAATTACATTACCATGGTTCT	0.398													7	61					0	0	0	0	G	71805057	A	G	71805057	5	3	456	1	0	0	0	0	0	0	1	0	733	405	14	5	1990	5	AP1G1	16	71805057	Splice_Site	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	1202097	71805057	18549696	157	88826											
TP53	7157	broad.mit.edu	37	chr17	7577531	7577532	+	Frame_Shift_Del	DEL	GG	GG	-																															agtgtgatgatggtgaggatGggcctccggttcatgccgcc																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:7577531_7577532delGG	ENST00000420246.2	-	7	881_882	c.749_750delCC	c.(748-750)cfs	p.P250fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P250fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P250fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P250fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250_T253delPILT(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.I251fs*13(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250delRP(1)|p.P250_I251insX(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)		TGGTGAGGATGGGCCTCCGGTT	0.574		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)			51	53	---	---	---	---					-	7577532	GG	-	7577531	7	5	456	1	0	1	0	1	0	0	0	0	16476	1335	47	0	540	0	TP53	17	7577531	Frame_Shift_Del	DEL	GG	TCGA-MZ-A7D7-01A-21D-A34J-08		7577531	73617679	158	88827											
TP53	7157	broad.mit.edu	37	chr17	7578250	7578250	+	Frame_Shift_Del	DEL	T	T	-																															ccaaatactccacacgcaaaTttccttccactcggataaga																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:7578250delT	ENST00000420246.2	-	6	731	c.599delA	c.(598-600)atfs	p.N200fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	200	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(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)		CACACGCAAATTTCCTTCCAC	0.547		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)			18	94	---	---	---	---					-	7578250	T	-	7578250	7	5	456	1	0	1	0	1	0	0	0	0	16476	1493	52	0	695	0	TP53	17	7578250	Frame_Shift_Del	DEL	T	TCGA-MZ-A7D7-01A-21D-A34J-08	719	7578250	73616960	159	88828											
MYH3	4621	broad.mit.edu	37	chr17	10543903	10543903	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatgtccaaatttgtactGagtgtggtcaatatcaatgg	11	14	11	5	0	2	1	2	1	0	0	3	1	3	1	1	3	1	2	1	3	6	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:10543903G>A	ENST00000583535.1	-	20	2353	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q756*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	756	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AATTTGTACTGAGTGTGGTCA	0.453													27	164					0	0	0	0	A	10543903	G	A	10543903	4	1	456	1	0	0	0	0	0	1	0	0	10106	1299	45	2	3644	2	MYH3	17	10543903	Nonsense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	2965653	10543903	70651307	160	88829											
NCOR1	9611	broad.mit.edu	37	chr17	15942786	15942786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttcctctcttcgtgtctCaccactggtcacaactgagg	6	12	7	16	1	3	1	2	1	2	0	7	1	4	1	3	2	1	0	3	2	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:15942786C>T	ENST00000268712.3	-	44	7173	c.6916G>A	c.(6916-6918)Gag>Aag	p.E2306K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E2203K|NCOR1_ENST00000395857.3_Missense_Mutation_p.E890K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2306	Interaction with C1D (By similarity).				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			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)		CTTCGTGTCTCACCACTGGTC	0.483													6	108					0	0	0	0	T	15942786	C	T	15942786	3	4	456	1	0	0	0	0	1	0	0	0	10305	835	29	2	418	2	NCOR1	17	15942786	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	5398883	15942786	65252424	161	88830											
KCNJ12	3768	broad.mit.edu	37	chr17	21319683	21319683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtacaagattgactactcGcacttccacaagacctatga	14	9	6	12	1	0	4	0	2	0	2	2	4	1	4	2	0	2	2	2	0	5	5	rs111482429	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:21319683G>A	ENST00000583088.1	+	3	1924	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	KCNJ12_ENST00000331718.5_Silent_p.S343S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.S343S(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TTGACTACTCGCACTTCCACA	0.582										Prostate(3;0.18)			29	237					0	0	0	0	A	21319683	G	A	21319683	2	1	456	1	0	0	0	0	0	0	0	1	8099	1074	38	1		1	KCNJ12	17	21319683	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	5376897	21319683	59875527	162	88831											
NGFR	4804	broad.mit.edu	37	chr17	47583779	47583779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgacgccgtgtgccgctgCgcctacggctactaccagga	7	6	13	15	6	0	0	0	0	0	0	0	3	0	1	4	2	5	2	4	2	3	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:47583779C>T	ENST00000172229.3	+	3	452	c.327C>T	c.(325-327)tgC>tgT	p.C109C	NGFR_ENST00000504201.1_Silent_p.C15C|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	109					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGTGCCGCTGCGCCTACGGCT	0.706													9	27					0	0	0	0	T	47583779	C	T	47583779	2	4	456	1	0	0	0	0	0	0	0	1	10466	776	27	1		1	NGFR	17	47583779	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	26264096	47583779	33611431	163	88832											
MBTD1	54799	broad.mit.edu	37	chr17	49279000	49279000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaagatttaatgggtctaTagcttccaatttcattcctt	12	16	6	7	0	2	2	1	0	1	2	4	2	4	2	2	1	1	1	2	1	5	8			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:49279000T>C	ENST00000586178.1	-	12	1520	c.1177A>G	c.(1177-1179)Ata>Gta	p.I393V	MBTD1_ENST00000415868.1_Missense_Mutation_p.I393V|MBTD1_ENST00000376381.2_Missense_Mutation_p.I393V	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	393					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AATGGGTCTATAGCTTCCAAT	0.318													51	153					0	0	0	0	C	49279000	T	C	49279000	3	2	456	1	0	0	0	0	1	0	0	0	9429	1406	49	5	733	5	MBTD1	17	49279000	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08	1695221	49279000	31916210	164	88833											
BZRAP1	9256	broad.mit.edu	37	chr17	56388367	56388367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaaggggcgctctggcctCtgggcttgggtgcggtgagg	4	8	20	9	2	2	1	0	1	2	0	2	1	2	1	1	7	2	3	1	7	1	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:56388367C>G	ENST00000355701.3	-	19	4159	c.3289G>C	c.(3289-3291)Gag>Cag	p.E1097Q	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1037Q|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1097Q	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1097	Pro-rich.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCTGGCCTCTGGGCTTGGG	0.701													7	9					0	0	0	0	G	56388367	C	G	56388367	3	3	456	1	0	0	0	0	1	0	0	0	1586	922	32	2	2336	2	BZRAP1	17	56388367	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	7109367	56388367	24806843	165	88834											
C17orf70	80233	broad.mit.edu	37	chr17	79517412	79517412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgcttccccgagacagatCcaccacacagaggtcagaag	12	5	11	13	1	1	4	1	0	0	4	3	5	3	4	4	2	1	1	4	2	1	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:79517412C>T	ENST00000537152.1	-	3	1180	c.655G>A	c.(655-657)Gat>Aat	p.D219N	C17orf70_ENST00000327787.8_Missense_Mutation_p.D370N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	370					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGAGACAGATCCACCACACAG	0.692													41	60					0	0	0	0	T	79517412	C	T	79517412	3	4	456	1	0	0	0	0	1	0	0	0	1892	855	30	2	1565	2	C17orf70	17	79517412	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	23129045	79517412	1677798	166	88835											
ZNF750	79755	broad.mit.edu	37	chr17	80789951	80789951	+	Frame_Shift_Del	DEL	C	C	-																															tgtggagggctggcttctgtCccaggcacctgtgggttccc																										TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:80789951delC	ENST00000269394.3	-	2	1213	c.380delG	c.(379-381)gafs	p.G127fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	127						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGCTTCTGTCCCAGGCACCT	0.642													12	54	---	---	---	---					-	80789951	C	-	80789951	7	5	456	1	0	1	0	1	0	0	0	0	18226	855	30	0	1799	0	ZNF750	17	80789951	Frame_Shift_Del	DEL	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1272539	80789951	405259	167	88836											
RAB12	201475	broad.mit.edu	37	chr18	8624994	8624994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaattagattacagatCtggtaagtgggagagtgtgc	15	10	13	3	0	1	4	0	0	1	4	1	5	1	4	0	2	2	1	0	2	6	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:8624994C>G	ENST00000329286.6	+	2	568	c.285C>G	c.(283-285)atC>atG	p.I95M		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	95					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GATTACAGATCTGGTAAGTGG	0.358													21	122					0	0	0	0	G	8624994	C	G	8624994	3	3	456	1	0	0	0	0	1	0	0	0	12980	903	32	2	291	2	RAB12	18	8624994	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		8624994	69452254	168	88837											
POTEC	388468	broad.mit.edu	37	chr18	14542841	14542841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggggaagcagtgacagCaccacttgcccatcttgctc	10	7	11	13	0	1	1	0	1	1	0	2	2	1	2	2	2	5	4	2	2	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:14542841C>A	ENST00000358970.5	-	1	304	c.305G>T	c.(304-306)tGc>tTc	p.C102F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	102										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCAGTGACAGCACCACTTGCC	0.617													57	271					1.4709e-25	1.69054e-25	1	0	A	14542841	C	A	14542841	3	1	456	1	0	0	0	0	1	0	0	0	12334	710	25	4	1367	4	POTEC	18	14542841	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	5917847	14542841	63534407	169	88838											
ALPK2	115701	broad.mit.edu	37	chr18	56202447	56202447	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctaactcacgttctcCtgaaataaatgccaaggtct	11	14	5	11	1	4	1	1	1	3	0	6	1	4	1	2	1	2	1	2	1	5	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:56202447C>A	ENST00000361673.3	-	5	5185	c.4972G>T	c.(4972-4974)Gga>Tga	p.G1658*		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1658							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCACGTTCTCCTGAAATAAAT	0.483													42	91					1.52319e-26	1.75859e-26	1	0	A	56202447	C	A	56202447	4	1	456	1	0	0	0	0	0	1	0	0	545	690	24	4	1576	4	ALPK2	18	56202447	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	41659606	56202447	21874801	170	88839											
PARD6G	84552	broad.mit.edu	37	chr18	77918269	77918269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcgccatcgcggatgtaGaagcccagcggcttctcgca	7	7	13	14	5	1	1	0	0	1	1	3	2	1	2	2	3	2	3	2	3	2	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:77918269G>C	ENST00000353265.3	-	3	713	c.516C>G	c.(514-516)ttC>ttG	p.F172L	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	172	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CGCGGATGTAGAAGCCCAGCG	0.687													7	14					0	0	0	0	C	77918269	G	C	77918269	3	2	456	1	0	0	0	0	1	0	0	0	11518	933	33	2	618	2	PARD6G	18	77918269	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	21715822	77918269	158979	171	88840											
UBXN6	80700	broad.mit.edu	37	chr19	4445519	4445519	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcttctcgatggctgaCaggagctcgggtttcaggat	9	10	14	8	2	2	2	1	1	1	1	4	5	2	4	0	4	2	4	0	4	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:4445519C>A	ENST00000301281.6	-	11	1426	c.1302G>T	c.(1300-1302)ctG>ctT	p.L434L	UBXN6_ENST00000394765.3_Silent_p.L381L	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	434						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CGATGGCTGACAGGAGCTCGG	0.627													8	175					0.0477658	0.04853	1	0	A	4445519	C	A	4445519	2	1	456	1	0	0	0	0	0	0	0	1	17013	465	17	4		4	UBXN6	19	4445519	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		4445519	54683464	172	88841											
ACTL9	284382	broad.mit.edu	37	chr19	8808866	8808866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcccagcaaaacctacCttacaggtgcctgtgcccat	9	8	8	16	0	0	0	0	0	0	0	0	0	0	0	6	1	7	1	6	1	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:8808866C>G	ENST00000324436.3	-	1	306	c.186G>C	c.(184-186)aaG>aaC	p.K62N		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	62						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAAAACCTACCTTACAGGTGC	0.652													19	44					0	0	0	0	G	8808866	C	G	8808866	3	3	456	1	0	0	0	0	1	0	0	0	203	680	24	4	1068	4	ACTL9	19	8808866	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	4363347	8808866	50320117	173	88842											
RTBDN	83546	broad.mit.edu	37	chr19	12936651	12936651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggacgaggtaccgcggAgatggagatgttgaagcagt	10	8	17	6	3	1	3	0	1	1	2	1	7	1	4	1	4	2	3	1	4	2	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:12936651A>G	ENST00000322912.5	-	7	972	c.655T>C	c.(655-657)Tcc>Ccc	p.S219P	RTBDN_ENST00000589272.1_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000393233.2_3'UTR|RTBDN_ENST00000592204.1_Missense_Mutation_p.S197P|RTBDN_ENST00000458671.2_Missense_Mutation_p.S187P	NM_031429.2	NP_113617.1	Q9BSG5	RTBDN_HUMAN	retbindin	187						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GGTACCGCGGAGATGGAGATG	0.692											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	35					0	0	0	0	G	12936651	A	G	12936651	3	3	456	1	0	0	0	0	1	0	0	0	13802	304	11	5	134	5	RTBDN	19	12936651	Missense_Mutation	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	4127785	12936651	46192332	174	88843											
GMIP	51291	broad.mit.edu	37	chr19	19749029	19749029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcttgctaggtcccggcGaggcctggggggccgagtcc	3	7	18	13	3	0	0	0	0	0	0	2	2	2	0	4	6	2	3	4	6	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:19749029G>A	ENST00000203556.4	-	9	865	c.728C>T	c.(727-729)tCg>tTg	p.S243L	GMIP_ENST00000587238.1_Missense_Mutation_p.S243L|GMIP_ENST00000445806.2_Missense_Mutation_p.S243L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	243					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGGTCCCGGCGAGGCCTGGGG	0.751													3	16					0	0	0	0	A	19749029	G	A	19749029	3	1	456	1	0	0	0	0	1	0	0	0	6542	1059	37	1	2236	1	GMIP	19	19749029	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	6812378	19749029	39379954	175	88844											
ZNF208	7757	broad.mit.edu	37	chr19	22154848	22154848	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtagggtttctctccAgtatgaattaccttatgttt	8	19	7	7	0	1	1	0	1	1	0	3	1	2	1	2	1	1	4	2	1	5	7			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:22154848A>T	ENST00000397126.4	-	4	3136	c.2988T>A	c.(2986-2988)acT>acA	p.T996T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTCTCTCCAGTATGAATTA	0.353													5	68					0	0	0	0	T	22154848	A	T	22154848	2	4	456	1	0	0	0	0	0	0	0	1	17861	175	7	5		5	ZNF208	19	22154848	Silent	SNP	A	TCGA-MZ-A7D7-01A-21D-A34J-08	2405819	22154848	36974135	176	88845											
ZNF257	113835	broad.mit.edu	37	chr19	22255710	22255710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatatagggatgtgatgttaGagaactacagaaacctggtc	14	11	11	5	0	0	3	0	1	0	2	1	5	0	4	1	2	3	1	1	2	7	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:22255710G>C	ENST00000594947.1	+	2	247	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	ZNF257_ENST00000600162.1_Missense_Mutation_p.E35Q	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTGATGTTAGAGAACTACAG	0.388													14	221					0	0	0	0	C	22255710	G	C	22255710	3	2	456	1	0	0	0	0	1	0	0	0	17895	943	33	2	109	2	ZNF257	19	22255710	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	100862	22255710	36873273	177	88846											
SNRPA	6626	broad.mit.edu	37	chr19	41257370	41257370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatatcaacaacctcaatgaGaagatcaagaaggatggtga	18	8	9	6	0	3	4	3	2	0	3	3	6	3	5	1	2	2	0	1	2	8	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:41257370G>C	ENST00000243563.3	+	1	607	c.57G>C	c.(55-57)gaG>gaC	p.E19D	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	19	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACCTCAATGAGAAGATCAAGA	0.527													8	196					0	0	0	0	C	41257370	G	C	41257370	3	2	456	1	0	0	0	0	1	0	0	0	14947	933	33	2	59	2	SNRPA	19	41257370	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	19001660	41257370	17871613	178	88847											
LIPE	3991	broad.mit.edu	37	chr19	42931220	42931220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgggtgtcttttctggccCaggctctagcggggttatag	5	14	14	8	1	3	0	0	0	3	0	3	0	3	0	1	5	1	2	1	5	4	6			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:42931220C>G	ENST00000244289.4	-	1	358	c.82G>C	c.(82-84)Ggg>Cgg	p.G28R	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	28					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTTTCTGGCCCAGGCTCTAGC	0.537													28	88					0	0	0	0	G	42931220	C	G	42931220	3	3	456	1	0	0	0	0	1	0	0	0	8876	594	21	4	3188	4	LIPE	19	42931220	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	1673850	42931220	16197763	179	88848											
ZNF285	26974	broad.mit.edu	37	chr19	44891920	44891920	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcccttatatcttccctGagagttctggggctcggtca	7	14	9	11	1	3	1	1	1	2	1	6	2	5	1	2	3	0	2	2	3	3	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:44891920G>A	ENST00000330997.4	-	4	551	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	ZNF285_ENST00000544719.2_Nonsense_Mutation_p.Q163*|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.Q170*|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TATCTTCCCTGAGAGTTCTGG	0.453													14	235					0	0	0	0	A	44891920	G	A	44891920	4	1	456	1	0	0	0	0	0	1	0	0	17917	1299	45	2	1289	2	ZNF285	19	44891920	Nonsense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	1960700	44891920	14237063	180	88849											
MARK4	57787	broad.mit.edu	37	chr19	45797632	45797632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccctcctagcatgatgaCccgcagaaacacctacgttt	10	9	6	16	2	0	3	0	2	0	1	2	3	2	3	5	0	3	3	5	0	3	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:45797632C>T	ENST00000300843.4	+	14	1817	c.1520C>T	c.(1519-1521)aCc>aTc	p.T507I	MARK4_ENST00000262891.4_Missense_Mutation_p.T507I	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	507					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGCATGATGACCCGCAGAAAC	0.587													20	69					0	0	0	0	T	45797632	C	T	45797632	3	4	456	1	0	0	0	0	1	0	0	0	9384	507	18	4	1574	4	MARK4	19	45797632	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	905712	45797632	13331351	181	88850											
RPS11	6205	broad.mit.edu	37	chr19	50002790	50002790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgtccagatcggtgacatCgtcacagtgggcgagtgccg	8	7	15	11	5	1	2	1	1	0	1	4	4	2	2	2	2	1	0	2	2	0	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:50002790C>T	ENST00000270625.2	+	5	458	c.375C>T	c.(373-375)atC>atT	p.I125I	RPS11_ENST00000594493.1_Silent_p.I46I|RPS11_ENST00000599561.1_3'UTR	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	125					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		TCGGTGACATCGTCACAGTGG	0.632													5	43					0	0	0	0	T	50002790	C	T	50002790	2	4	456	1	0	0	0	0	0	0	0	1	13706	874	31	1		1	RPS11	19	50002790	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	4205158	50002790	9126193	182	88851											
ZNF415	55786	broad.mit.edu	37	chr19	53619585	53619585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagggagaccaggttcctGtagttctccaacatcacatc	10	9	8	14	0	2	1	1	0	1	1	5	2	3	1	4	2	1	3	4	2	2	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:53619585G>A	ENST00000455735.2	-	4	375	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ZNF415_ENST00000595813.1_Silent_p.Y39Y|ZNF415_ENST00000599261.1_Silent_p.Y39Y|ZNF415_ENST00000594011.1_Silent_p.Y39Y|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000597748.1_Silent_p.Y39Y|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000243643.4_Silent_p.Y39Y|ZNF415_ENST00000597503.1_Silent_p.Y39Y|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Q19*|ZNF415_ENST00000595193.1_Silent_p.Y39Y|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Q19*|ZNF415_ENST00000500065.4_Silent_p.Y39Y|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000600574.1_Silent_p.Y39Y			Q09FC8	ZN415_HUMAN	zinc finger protein 415	19					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)		CCAGGTTCCTGTAGTTCTCCA	0.473													53	157					0	0	0	0	A	53619585	G	A	53619585	4	1	456	1	0	0	0	0	0	1	0	0	17987	1372	48	4	1558	4	ZNF415	19	53619585	Nonsense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	3616795	53619585	5509398	183	88852											
ZNF549	256051	broad.mit.edu	37	chr19	58049430	58049430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgttggccatcagcagaGaatccacactggagagaggc	12	8	12	9	0	1	2	1	0	0	2	2	5	2	3	2	3	1	2	2	3	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:58049430G>A	ENST00000376233.3	+	4	1239	c.1058G>A	c.(1057-1059)aGa>aAa	p.R353K	ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R340K|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATCAGCAGAGAATCCACACT	0.443													6	136					0	0	0	0	A	58049430	G	A	58049430	3	1	456	1	0	0	0	0	1	0	0	0	18076	942	33	2	1029	2	ZNF549	19	58049430	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	4429845	58049430	1079553	184	88853											
ZNF134	7693	broad.mit.edu	37	chr19	58131949	58131949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaacaaaaggccatccaCagtaagaggaagacacacag	18	3	9	11	0	0	2	0	0	0	2	1	3	1	3	3	2	2	1	3	2	5	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:58131949C>A	ENST00000396161.5	+	3	772	c.462C>A	c.(460-462)caC>caA	p.H154Q		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	154						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGGCCATCCACAGTAAGAGGA	0.483													10	46					0.0692343	0.0700618	1	0	A	58131949	C	A	58131949	3	1	456	1	0	0	0	0	1	0	0	0	17819	477	17	4	468	4	ZNF134	19	58131949	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	82519	58131949	997034	185	88854											
PDYN	5173	broad.mit.edu	37	chr20	1963676	1963676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgacaggcagtccgctgTggtggaggggaacatgagga	9	5	18	9	3	0	1	0	1	0	0	1	5	1	4	2	6	1	2	2	6	1	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:1963676T>C	ENST00000217305.2	-	3	280	c.55A>G	c.(55-57)Aca>Gca	p.T19A	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.T19A|PDYN_ENST00000539905.1_Missense_Mutation_p.T19A	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	19					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGTCCGCTGTGGTGGAGGGG	0.562													13	45					0	0	0	0	C	1963676	T	C	1963676	3	2	456	1	0	0	0	0	1	0	0	0	11770	1696	59	5	717	5	PDYN	20	1963676	Missense_Mutation	SNP	T	TCGA-MZ-A7D7-01A-21D-A34J-08		1963676	61061844	186	88855											
SPTLC3	55304	broad.mit.edu	37	chr20	13055073	13055073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttgcagccaagtatgatGagtctatgaggacaataaag	14	10	11	6	0	2	3	0	3	2	0	2	4	2	4	1	1	2	2	1	1	6	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:13055073G>A	ENST00000399002.2	+	4	809	c.535G>A	c.(535-537)Gag>Aag	p.E179K	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E179K	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	179					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CAAGTATGATGAGTCTATGAG	0.433													10	74					0	0	0	0	A	13055073	G	A	13055073	3	1	456	1	0	0	0	0	1	0	0	0	15215	1291	45	2	549	2	SPTLC3	20	13055073	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	11091397	13055073	49970447	187	88856											
NINL	22981	broad.mit.edu	37	chr20	25472025	25472025	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctcgcggaggccagcctCctcagcctgcaggcgcccca	5	6	11	19	3	2	0	1	0	1	0	4	1	3	1	6	3	3	1	6	3	0	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:25472025C>A	ENST00000278886.6	-	11	1520	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	NINL_ENST00000422516.1_Nonsense_Mutation_p.E483*	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	483					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGGCCAGCCTCCTCAGCCTGC	0.701													10	55					2.68362e-12	3.02951e-12	1	0	A	25472025	C	A	25472025	4	1	456	1	0	0	0	0	0	1	0	0	10490	864	30	2	2757	2	NINL	20	25472025	Nonsense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	12416952	25472025	37553495	188	88857											
HNF4A	3172	broad.mit.edu	37	chr20	43034712	43034712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgcagacacgtccccatcaGaaggcaccaacctcaacgcg	12	3	9	17	4	2	2	2	0	0	2	3	2	3	2	4	1	2	2	4	1	3	0			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:43034712G>C	ENST00000316099.3	+	2	219	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	HNF4A_ENST00000457232.1_Missense_Mutation_p.E22Q|HNF4A_ENST00000415691.1_Missense_Mutation_p.E44Q|HNF4A_ENST00000443598.2_Missense_Mutation_p.E44Q	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	44					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTCCCCATCAGAAGGCACCAA	0.627													31	212					0	0	0	0	C	43034712	G	C	43034712	3	2	456	1	0	0	0	0	1	0	0	0	7303	943	33	2	189	2	HNF4A	20	43034712	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	17562687	43034712	19990808	189	88858											
PCK1	5105	broad.mit.edu	37	chr20	56137247	56137247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcagccagctcggtcgCtggatgtcagaggaggattt	7	9	15	10	2	2	1	2	0	0	1	4	4	2	4	2	5	2	2	2	5	0	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:56137247C>T	ENST00000319441.4	+	3	509	c.345C>T	c.(343-345)cgC>cgT	p.R115R	PCK1_ENST00000535860.1_Intron|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	115					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGCTCGGTCGCTGGATGTCAG	0.527													7	54					0	0	0	0	T	56137247	C	T	56137247	2	4	456	1	0	0	0	0	0	0	0	1	11652	784	28	4		4	PCK1	20	56137247	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	13102535	56137247	6888273	190	88859											
CDH4	1002	broad.mit.edu	37	chr20	60470074	60470074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacggtgacagatgtgaatGacaacccgccagaatttacc	13	8	9	11	2	1	5	1	3	0	2	1	5	1	5	3	1	2	0	3	1	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:60470074G>A	ENST00000360469.5	+	8	1247	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	CDH4_ENST00000543233.1_Missense_Mutation_p.D313N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	387	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGATGTGAATGACAACCCGCC	0.567													19	171					0	0	0	0	A	60470074	G	A	60470074	3	1	456	1	0	0	0	0	1	0	0	0	3141	1290	45	2	1189	2	CDH4	20	60470074	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	4332827	60470074	2555446	191	88860											
MICAL3	57553	broad.mit.edu	37	chr22	18293533	18293533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagctgccttttgcacaCgccgggtcagcttggcattc	5	11	11	14	3	1	0	1	0	0	0	3	1	2	0	3	2	4	4	3	2	0	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:18293533C>T	ENST00000441493.2	-	28	5844	c.5492G>A	c.(5491-5493)cGt>cAt	p.R1831H	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1831						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTTTTGCACACGCCGGGTCAG	0.582													14	129					0	0	0	0	T	18293533	C	T	18293533	3	4	456	1	0	0	0	0	1	0	0	0	9640	536	19	1	536	1	MICAL3	22	18293533	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		18293533	33011033	192	88861											
C22orf31	25770	broad.mit.edu	37	chr22	29456409	29456409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtcctcgtctacctctctGatgcctcctgcaggcctcct	3	13	8	17	1	2	1	0	1	2	0	7	1	5	1	6	2	3	1	6	2	1	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:29456409G>A	ENST00000216071.4	-	2	477	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	142										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CTACCTCTCTGATGCCTCCTG	0.527													7	148					0	0	0	0	A	29456409	G	A	29456409	2	1	456	1	0	0	0	0	0	0	0	1	2163	1280	45	2		2	C22orf31	22	29456409	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	11162876	29456409	21848157	193	88862											
SEC14L3	266629	broad.mit.edu	37	chr22	30857319	30857319	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgccggcctctgagcaggtGaggttcccatcctcgggcac	6	7	13	15	3	1	2	0	2	1	0	4	2	3	2	4	4	1	3	4	4	0	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:30857319G>C	ENST00000403066.1	-	12	1165	c.882C>G	c.(880-882)ctC>ctG	p.L294L	SEC14L3_ENST00000215812.4_Silent_p.L353L|SEC14L3_ENST00000415957.2_Silent_p.L294L|SEC14L3_ENST00000402286.1_Silent_p.L276L|SEC14L3_ENST00000401751.1_Silent_p.L294L|SEC14L3_ENST00000540910.1_Silent_p.L276L|SEC14L3_ENST00000539629.1_Silent_p.L294L			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	353	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CTGAGCAGGTGAGGTTCCCAT	0.597													12	117					0	0	0	0	C	30857319	G	C	30857319	2	2	456	1	0	0	0	0	0	0	0	1	14070	1277	45	2		2	SEC14L3	22	30857319	Silent	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	1400910	30857319	20447247	194	88863											
OSBP2	23762	broad.mit.edu	37	chr22	31302302	31302302	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaaggagaagcaagactgGcatatgtgccccaacatctt	13	7	10	11	0	1	2	0	0	1	2	1	3	1	2	3	2	3	2	3	2	5	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:31302302G>A	ENST00000332585.6	+	14	2831	c.2727G>A	c.(2725-2727)tgG>tgA	p.W909*	OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W652*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W542*|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W453*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W908*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W743*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W736*|OSBP2_ENST00000382310.3_3'UTR	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	909					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCAAGACTGGCATATGTGCC	0.557													4	128					0	0	0	0	A	31302302	G	A	31302302	4	1	456	1	0	0	0	0	0	1	0	0	11345	1212	42	4	2781	4	OSBP2	22	31302302	Nonsense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	444983	31302302	20002264	195	88864											
EP300	2033	broad.mit.edu	37	chr22	41513481	41513481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaaagcccaatgacacagGcaggcttgacttctcccaac	13	7	7	14	0	2	2	1	2	1	0	3	2	2	2	2	2	2	2	2	2	4	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:41513481G>T	ENST00000263253.7	+	2	1604	c.385G>T	c.(385-387)Gca>Tca	p.A129S		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	129	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATGACACAGGCAGGCTTGAC	0.527			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				24	85					1.85244e-09	2.05467e-09	1	0	T	41513481	G	T	41513481	3	4	456	1	0	0	0	0	1	0	0	0	5186	1203	42	4	391	4	EP300	22	41513481	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	10211179	41513481	9791085	196	88865											
PLXNB2	23654	broad.mit.edu	37	chr22	50722576	50722576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccatggagcttgctgtCgatattcttgccgtaagact	8	12	9	12	2	1	1	0	0	1	1	2	3	1	2	3	1	3	3	3	1	2	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:50722576C>T	ENST00000449103.1	-	13	2388	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.D750N			O15031	PLXB2_HUMAN	plexin B2	750					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTTGCTGTCGATATTCTTG	0.682													28	64					0	0	0	0	T	50722576	C	T	50722576	3	4	456	1	0	0	0	0	1	0	0	0	12196	884	31	1	3368	1	PLXNB2	22	50722576	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	9209095	50722576	581990	197	88866											
FUNDC1	139341	broad.mit.edu	37	chrX	44383462	44383462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttaagatgcaagtccgagCaaaaagcctcccacaaatcc	15	6	6	14	1	0	1	0	0	0	1	3	2	3	1	5	0	3	2	5	0	5	1			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:44383462C>T	ENST00000378045.4	-	5	618	c.450G>A	c.(448-450)ttG>ttA	p.L150L	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	150										breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CAAGTCCGAGCAAAAAGCCTC	0.378													9	12					0	0	0	0	T	44383462	C	T	44383462	2	4	456	1	0	0	0	0	0	0	0	1	6145	709	25	4		4	FUNDC1	23	44383462	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08		44383462	110887098	198	88867											
WNK3	65267	broad.mit.edu	37	chrX	54276531	54276531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgatacagaatcgccacCgaccaactggggatgactga	13	7	11	10	2	0	4	0	3	0	1	1	7	0	5	3	2	2	0	3	2	3	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:54276531C>A	ENST00000354646.2	-	16	3047	c.2609G>T	c.(2608-2610)cGg>cTg	p.R870L	WNK3_ENST00000375159.2_Missense_Mutation_p.R870L|WNK3_ENST00000375169.3_Missense_Mutation_p.R870L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	870					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAATCGCCACCGACCAACTGG	0.418													6	7					0.217242	0.217242	1	0	A	54276531	C	A	54276531	3	1	456	1	0	0	0	0	1	0	0	0	17475	652	23	3	2829	3	WNK3	23	54276531	Missense_Mutation	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	9893069	54276531	100994029	199	88868											
BRWD3	254065	broad.mit.edu	37	chrX	79990684	79990684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggatctctcagtaaatttCaccgggcgatctctaaagat	11	12	8	10	2	4	1	2	0	2	1	6	3	4	2	1	2	0	1	1	2	4	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:79990684C>T	ENST00000373275.4	-	10	1143	c.927G>A	c.(925-927)gtG>gtA	p.V309V		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	309										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAGTAAATTTCACCGGGCGAT	0.373													13	42					0	0	0	0	T	79990684	C	T	79990684	2	4	456	1	0	0	0	0	0	0	0	1	1534	813	29	2		2	BRWD3	23	79990684	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	25714153	79990684	75279876	200	88869											
BTK	695	broad.mit.edu	37	chrX	100630177	100630177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggagagtttgtgcacggtCaagagaaacaggcgcttctt	11	10	13	7	2	2	2	1	0	1	2	2	4	2	2	0	3	2	3	0	3	3	4			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:100630177C>T	ENST00000308731.7	-	2	259	c.96G>A	c.(94-96)ttG>ttA	p.L32L	BTK_ENST00000372880.1_Silent_p.L32L|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	32	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTGCACGGTCAAGAGAAACA	0.433									Agammaglobulinemia, X-linked				13	116					0	0	0	0	T	100630177	C	T	100630177	2	4	456	1	0	0	0	0	0	0	0	1	1566	825	29	2		2	BTK	23	100630177	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	20639493	100630177	54640383	201	88870											
F9	2158	broad.mit.edu	37	chrX	138643976	138643976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttagagttccacttgttGaccgagccacatgtcttcga	9	12	8	12	2	1	2	0	1	1	1	3	4	2	2	4	0	1	2	4	0	1	5			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:138643976G>A	ENST00000218099.2	+	8	1139	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	F9_ENST00000394090.2_Missense_Mutation_p.D340N	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	378	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TCCACTTGTTGACCGAGCCAC	0.443													8	54					0	0	0	0	A	138643976	G	A	138643976	3	1	456	1	0	0	0	0	1	0	0	0	5392	1290	45	2	1162	2	F9	23	138643976	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	38013799	138643976	16626584	202	88871											
IRAK1	3654	broad.mit.edu	37	chrX	153284056	153284056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcgacactcacctccttCagcctcttcacagcatacac	9	9	6	17	1	4	0	3	0	1	0	5	1	5	0	3	1	4	1	3	1	1	3			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:153284056C>T	ENST00000369980.3	-	5	890	c.723G>A	c.(721-723)ctG>ctA	p.L241L	IRAK1_ENST00000429936.2_Silent_p.L267L|IRAK1_ENST00000369974.2_Silent_p.L241L|IRAK1_ENST00000393687.2_Silent_p.L241L|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Silent_p.L267L	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	241	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTCCTTCAGCCTCTTCA	0.602													25	90					0	0	0	0	T	153284056	C	T	153284056	2	4	456	1	0	0	0	0	0	0	0	1	7874	813	29	2		2	IRAK1	23	153284056	Silent	SNP	C	TCGA-MZ-A7D7-01A-21D-A34J-08	14640080	153284056	1986504	203	88872											
FAM50A	9130	broad.mit.edu	37	chrX	153678776	153678776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcctcacactagatccGctgagcatccaggaggctgc	8	9	10	14	1	1	2	1	1	0	1	4	3	4	3	3	2	2	3	3	2	1	2			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:153678776G>A	ENST00000393600.3	+	13	1126	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	339					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACTAGATCCGCTGAGCATCC	0.692													8	18					0	0	0	0	A	153678776	G	A	153678776	3	1	456	1	0	0	0	0	1	0	0	0	5624	1087	38	1	1066	1	FAM50A	23	153678776	Missense_Mutation	SNP	G	TCGA-MZ-A7D7-01A-21D-A34J-08	394720	153678776	1591784	204	88873											
PRDM16	63976	broad.mit.edu	37	chr1	3102852	3102852	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccccaaggagggctcgccGtacgaggcccctgtctacat	8	6	11	16	3	1	0	0	0	1	0	2	2	1	1	5	3	2	2	5	3	3	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:3102852G>A	ENST00000378398.3	+	2	283	c.201G>A	c.(199-201)ccG>ccA	p.P67P	PRDM16_ENST00000442529.2_Silent_p.P67P|PRDM16_ENST00000378391.2_Silent_p.P67P|PRDM16_ENST00000514189.1_Silent_p.P67P|PRDM16_ENST00000511072.1_Silent_p.P67P|PRDM16_ENST00000441472.2_Silent_p.P67P|PRDM16_ENST00000270722.5_Silent_p.P67P			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	67					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGGCTCGCCGTACGAGGCCC	0.672			T	EVI1	"MDS, AML"								5	126					0	0	0	0	A	3102852	G	A	3102852	2	1	457	1	0	0	0	0	0	0	0	1	12537	1132	40	1		1	PRDM16	1	3102852	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08		3102852	246147769	1	88874											
FAM46B	115572	broad.mit.edu	37	chr1	27333400	27333400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctgaaccatgcagccGcacactgtgcacatgtagtc	10	7	11	13	1	0	1	0	1	0	0	1	1	0	1	2	1	5	6	2	1	2	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:27333400G>A	ENST00000289166.5	-	2	478	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	105										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CCATGCAGCCGCACACTGTGC	0.652													4	57					0	0	0	0	A	27333400	G	A	27333400	3	1	457	1	0	0	0	0	1	0	0	0	5613	1086	38	1	968	1	FAM46B	1	27333400	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	24230548	27333400	221917221	2	88875											
BSDC1	55108	broad.mit.edu	37	chr1	32842088	32842088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttcctccaaggatgcctCtagcagcttttgggacaggt	7	12	11	11	0	1	0	0	0	1	0	3	2	3	2	3	3	3	3	3	3	2	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:32842088C>T	ENST00000341071.7	-	9	993	c.982G>A	c.(982-984)Gag>Aag	p.E328K	BSDC1_ENST00000449308.1_Missense_Mutation_p.E311K|BSDC1_ENST00000419121.2_Missense_Mutation_p.E255K|BSDC1_ENST00000446293.2_Missense_Mutation_p.E328K|BSDC1_ENST00000526031.1_Missense_Mutation_p.E216K|BSDC1_ENST00000413080.1_Missense_Mutation_p.E250K|BSDC1_ENST00000455895.2_Missense_Mutation_p.E311K			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	311							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGGATGCCTCTAGCAGCTTT	0.612													32	110					0	0	0	0	T	32842088	C	T	32842088	3	4	457	1	0	0	0	0	1	0	0	0	1536	922	32	2	373	2	BSDC1	1	32842088	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	5508688	32842088	216408533	3	88876											
GJB4	127534	broad.mit.edu	37	chr1	35226994	35226994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaggaggtgtgggacgatGagcagaaggactttgtctgc	9	8	18	6	2	1	2	0	1	1	1	1	7	1	6	0	5	2	1	0	5	1	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:35226994G>A	ENST00000339480.1	+	2	509	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	47					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGGGACGATGAGCAGAAGGA	0.592													15	22					0	0	0	0	A	35226994	G	A	35226994	3	1	457	1	0	0	0	0	1	0	0	0	6461	1291	45	2	141	2	GJB4	1	35226994	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	2384906	35226994	214023627	4	88877											
LEPRE1	64175	broad.mit.edu	37	chr1	43220610	43220610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagggtctcgatttccttCataaggttcccaatctcctg	9	13	7	12	1	3	0	1	0	2	0	7	1	5	0	3	2	0	1	3	2	3	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:43220610C>T	ENST00000236040.4	-	8	1315	c.1275G>A	c.(1273-1275)atG>atA	p.M425I	LEPRE1_ENST00000296388.5_Missense_Mutation_p.M425I|LEPRE1_ENST00000397054.3_Missense_Mutation_p.M425I	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	425					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGATTTCCTTCATAAGGTTCC	0.562													24	47					0	0	0	0	T	43220610	C	T	43220610	3	4	457	1	0	0	0	0	1	0	0	0	8782	826	29	2	986	2	LEPRE1	1	43220610	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	7993616	43220610	206030011	5	88878											
ELAVL4	1996	broad.mit.edu	37	chr1	50659554	50659568	+	In_Frame_Del	DEL	ATCATCACCTCACGA	ATCATCACCTCACGA	-																															ttttctcgcaatacggccgtAtcatcacctcacgaatcctg																										TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:50659554_50659568delATCATCACCTCACGA	ENST00000371824.1	+	4	729_743	c.472_486delATCATCACCTCACGA	c.(472-486)del	p.IITSR158del	ELAVL4_ENST00000448907.2_In_Frame_Del_p.IITSR161del|ELAVL4_ENST00000371823.4_In_Frame_Del_p.IITSR158del|ELAVL4_ENST00000371819.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000371821.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000357083.4_In_Frame_Del_p.IITSR175del|ELAVL4_ENST00000371827.1_In_Frame_Del_p.IITSR158del			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	158	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATACGGCCGTATCATCACCTCACGAATCCTGGTTG	0.451													10	117	---	---	---	---					-	50659568	ATCATCACCTCACGA	-	50659554	7	5	457	1	0	1	0	1	0	0	0	0	5090	449	16	0	585	0	ELAVL4	1	50659554	In_Frame_Del	DEL	ATCATCACCTCACGA	TCGA-P3-A5Q6-01A-11D-A28R-08	7438944	50659554	198591067	6	88879											
LPPR5	163404	broad.mit.edu	37	chr1	99422164	99422164	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aataatttaatgaacacataCcaagaaatcggacagttcgg	18	9	7	7	2	0	2	0	1	0	1	2	3	0	3	1	2	2	1	1	2	7	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:99422164C>G	ENST00000370188.3	-	2	731		c.e2+1		LPPR5_ENST00000263177.4_Splice_Site	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN								integral to membrane	hydrolase activity										tGAACACATACCAAGAAATCG	0.353													4	20					0	0	0	0	G	99422164	C	G	99422164	5	3	457	1	0	0	0	0	0	0	1	0	8992	521	18	4	614	4	LPPR5	1	99422164	Splice_Site	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	48762610	99422164	149828457	7	88880											
LPPR4	9890	broad.mit.edu	37	chr1	99771596	99771596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattcatgcctctatggattCcgctcgatcaaagcagctcc	9	11	7	14	2	3	0	2	0	1	0	6	2	5	1	3	1	3	3	3	1	2	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:99771596C>A	ENST00000370185.3	+	7	1819	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	LPPR4_ENST00000370184.1_Missense_Mutation_p.S283Y|LPPR4_ENST00000457765.1_Missense_Mutation_p.S383Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		441							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTATGGATTCCGCTCGATCA	0.498													24	62					4.47668e-21	5.04991e-21	1	0	A	99771596	C	A	99771596	3	1	457	1	0	0	0	0	1	0	0	0	8991	855	30	2	1348	2	LPPR4	1	99771596	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	349432	99771596	149479025	8	88881											
HSD3B2	3284	broad.mit.edu	37	chr1	119958097	119958097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctgggtcagaggatcGtccgcctgttggtggaagag	6	10	17	8	2	2	2	1	0	1	2	4	4	3	4	2	5	0	2	2	5	1	2	rs143169543		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:119958097G>A	ENST00000543831.1	+	2	304	c.55G>A	c.(55-57)Gtc>Atc	p.V19I	HSD3B2_ENST00000369416.3_Missense_Mutation_p.V19I|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	19					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TCAGAGGATCGTCCGCCTGTT	0.517													5	75					0	0	0	0	A	119958097	G	A	119958097	3	1	457	1	0	0	0	0	1	0	0	0	7441	1145	40	1	57	1	HSD3B2	1	119958097	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	20186501	119958097	129292524	9	88882											
CENPL	91687	broad.mit.edu	37	chr1	173776424	173776424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggacaagaaatgcttccGggtccctttgtgttcctttc	6	14	9	12	1	0	1	0	0	0	1	4	2	3	2	4	2	1	2	4	2	2	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:173776424G>A	ENST00000356198.2	-	4	686	c.401C>T	c.(400-402)cCg>cTg	p.P134L	CENPL_ENST00000367710.3_Missense_Mutation_p.P134L|CENPL_ENST00000345664.6_Missense_Mutation_p.P134L	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	134					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAATGCTTCCGGGTCCCTTTG	0.363													6	35					0	0	0	0	A	173776424	G	A	173776424	3	1	457	1	0	0	0	0	1	0	0	0	3265	1116	39	1	787	1	CENPL	1	173776424	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	53818327	173776424	75474197	10	88883											
TNR	7143	broad.mit.edu	37	chr1	175355182	175355182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacctgttgtgaactgaGtggtggcagaatcgctctcg	7	12	12	10	2	1	3	0	2	1	1	3	3	1	3	2	2	2	3	2	2	3	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:175355182G>C	ENST00000367674.1	-	8	2471	c.1763C>G	c.(1762-1764)aCt>aGt	p.T588S	TNR_ENST00000263525.2_Missense_Mutation_p.T588S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	588	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTGAACTGAGTGGTGGCAGA	0.602													29	142					0	0	0	0	C	175355182	G	C	175355182	3	2	457	1	0	0	0	0	1	0	0	0	16432	1029	36	4	2377	4	TNR	1	175355182	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	1578758	175355182	73895439	11	88884											
CEP350	9857	broad.mit.edu	37	chr1	180063719	180063719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattggaagatgaaaaagaaGagatttcctctccagatatg	17	10	9	5	0	1	5	0	1	1	4	3	7	2	6	2	1	0	0	2	1	6	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:180063719G>C	ENST00000367607.3	+	34	8897	c.8479G>C	c.(8479-8481)Gag>Cag	p.E2827Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2827						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGAAAAAGAAGAGATTTCCTC	0.393													10	42					0	0	0	0	C	180063719	G	C	180063719	3	2	457	1	0	0	0	0	1	0	0	0	3283	943	33	2	8609	2	CEP350	1	180063719	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	4708537	180063719	69186902	12	88885											
CACNA1S	779	broad.mit.edu	37	chr1	201008964	201008964	+	Missense_Mutation	SNP	G	G	T																															gatgctgtgtgggcatcacaGccttggaggaataagggtct																										TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:201008964G>T	ENST00000362061.3	-	44	5843	c.5617C>A	c.(5617-5619)Ctg>Atg	p.L1873M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1854M|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1873					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGCATCACAGCCTTGGAGGA	0.637													29	52					9.80776e-20	1.09966e-19	1	0	T	201008964	G	T	201008964	3	4	457	1	0	0	0	0	1	0	0	0	2572	962	34	4	8	4	CACNA1S	1	201008964	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	20945245	201008964	48241657	13	88886	1098	2									
CACNA1S	779	broad.mit.edu	37	chr1	201008965	201008965	+	Silent	SNP	C	C	T																															atgctgtgtgggcatcacagCcttggaggaataagggtctc																										TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:201008965C>T	ENST00000362061.3	-	44	5842	c.5616G>A	c.(5614-5616)agG>agA	p.R1872R	CACNA1S_ENST00000367338.3_Silent_p.R1853R|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1872					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGCATCACAGCCTTGGAGGAA	0.637													29	52					0	0	0	0	T	201008965	C	T	201008965	2	4	457	1	0	0	0	0	0	0	0	1	2572	738	26	4		4	CACNA1S	1	201008965	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	1	201008965	48241656	14	88887	1098	2									
SLC45A3	85414	broad.mit.edu	37	chr1	205628434	205628434	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaatggcgaccagaccCaggcctgcggcagacaccat	13	4	11	13	2	0	2	0	0	0	2	0	3	0	2	4	3	1	2	4	3	3	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:205628434C>A	ENST00000367145.3	-	5	1885	c.1590G>T	c.(1588-1590)ctG>ctT	p.L530L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	530					transmembrane transport	integral to membrane			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)			CGACCAGACCCAGGCCTGCGG	0.547			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)	8	79					0.00307968	0.00313044	1	0	A	205628434	C	A	205628434	2	1	457	1	0	0	0	0	0	0	0	1	14730	581	21	4		4	SLC45A3	1	205628434	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	4619469	205628434	43622187	15	88888											
USH2A	7399	broad.mit.edu	37	chr1	216424251	216424251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgttacacgtaccaataaCgtttgctttgcacttgcact	9	14	7	11	3	0	0	0	0	0	0	0	0	0	0	1	0	7	6	1	0	4	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:216424251C>T	ENST00000366943.2	-	12	2547	c.2161G>A	c.(2161-2163)Gtt>Att	p.V721I	USH2A_ENST00000366942.3_Missense_Mutation_p.V721I|USH2A_ENST00000307340.3_Missense_Mutation_p.V721I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	721	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACCAATAACGTTTGCTTTG	0.398										HNSCC(13;0.011)			5	27					0	0	0	0	T	216424251	C	T	216424251	3	4	457	1	0	0	0	0	1	0	0	0	17132	536	19	1	13705	1	USH2A	1	216424251	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	10795817	216424251	32826370	16	88889											
ZNF124	7678	broad.mit.edu	37	chr1	247323032	247323032	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcctgcatcacgtctctAtagagattcttctgggaagg	8	14	10	9	1	4	1	1	0	3	1	6	3	5	2	1	2	1	2	1	2	3	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:247323032A>G	ENST00000472531.1	-	2	241	c.114T>C	c.(112-114)taT>taC	p.Y38Y	ZNF124_ENST00000491356.1_Silent_p.Y38Y|ZNF124_ENST00000543802.2_Silent_p.Y38Y|ZNF124_ENST00000340684.6_Silent_p.Y38Y|ZNF124_ENST00000491848.1_5'UTR	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCACGTCTCTATAGAGATTCT	0.418													37	47					0	0	0	0	G	247323032	A	G	247323032	2	3	457	1	0	0	0	0	0	0	0	1	17815	456	16	5		5	ZNF124	1	247323032	Silent	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	30898781	247323032	1927589	17	88890											
GREB1	9687	broad.mit.edu	37	chr2	11770105	11770105	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctgcacgcctttgcctTctcttactccatgctaggag	6	12	7	16	1	1	0	0	0	1	0	3	1	2	1	4	1	4	2	4	1	2	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:11770105T>A	ENST00000381486.2	+	26	4781	c.4481T>A	c.(4480-4482)tTc>tAc	p.F1494Y	GREB1_ENST00000234142.5_Missense_Mutation_p.F1494Y|GREB1_ENST00000396123.1_Missense_Mutation_p.F492Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1494						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCTTTGCCTTCTCTTACTCC	0.592													16	57					0	0	0	0	A	11770105	T	A	11770105	3	1	457	1	0	0	0	0	1	0	0	0	6810	1783	62	5	4687	5	GREB1	2	11770105	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		11770105	231429268	18	88891											
KCNS3	3790	broad.mit.edu	37	chr2	18112727	18112727	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtttgaagagtcgtctcTgtttgagaaagagctggaga	10	12	13	6	2	1	5	0	2	1	4	4	7	1	5	0	1	1	3	0	1	2	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:18112727T>G	ENST00000403915.1	+	3	903	c.452T>G	c.(451-453)cTg>cGg	p.L151R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.L151R			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	151					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGTCGTCTCTGTTTGAGAAA	0.498													17	81					0	0	0	0	G	18112727	T	G	18112727	3	3	457	1	0	0	0	0	1	0	0	0	8143	1580	55	5	454	5	KCNS3	2	18112727	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	6342622	18112727	225086646	19	88892											
RTN4	57142	broad.mit.edu	37	chr2	55255323	55255323	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagcgtatcacaggcTcagatgcagcaggaagagca	14	4	14	9	1	2	3	2	0	0	3	2	5	2	5	0	3	4	5	0	3	2	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:55255323T>A	ENST00000337526.6	-	2	833	c.590A>T	c.(589-591)gAg>gTg	p.E197V	RTN4_ENST00000357376.3_5'UTR|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000405240.1_5'UTR|RTN4_ENST00000357732.4_Missense_Mutation_p.E197V|RTN4_ENST00000394611.2_5'UTR|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_5'UTR	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	197					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TATCACAGGCTCAGATGCAGC	0.393													9	27					0	0	0	0	A	55255323	T	A	55255323	3	1	457	1	0	0	0	0	1	0	0	0	13813	1551	54	5	3058	5	RTN4	2	55255323	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	37142596	55255323	187944050	20	88893											
WDR92	116143	broad.mit.edu	37	chr2	68364552	68364552	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtcttttctgtcaaacTccaagctacacacctgaaaa	13	13	4	11	0	3	1	1	1	2	0	4	1	4	1	2	0	3	1	2	0	6	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:68364552T>A	ENST00000295121.6	-	6	763	c.647A>T	c.(646-648)gAg>gTg	p.E216V	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.E216V|WDR92_ENST00000406245.2_Missense_Mutation_p.E115V	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	216					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TCTGTCAAACTCCAAGCTACA	0.368													4	29					0	0	0	0	A	68364552	T	A	68364552	3	1	457	1	0	0	0	0	1	0	0	0	17435	1551	54	5	438	5	WDR92	2	68364552	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	13109229	68364552	174834821	21	88894											
UBXN4	23190	broad.mit.edu	37	chr2	136511787	136511787	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagtggaattcccttggaAgtaatagcaggaagtgtttc	12	11	12	6	0	0	0	0	0	0	0	2	4	1	3	1	3	1	3	1	3	5	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:136511787A>G	ENST00000272638.9	+	4	584	c.273A>G	c.(271-273)gaA>gaG	p.E91E	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	91					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTCCCTTGGAAGTAATAGCAG	0.393													31	51					0	0	0	0	G	136511787	A	G	136511787	2	3	457	1	0	0	0	0	0	0	0	1	17012	69	3	5		5	UBXN4	2	136511787	Silent	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	68147235	136511787	106687586	22	88895											
LRP1B	53353	broad.mit.edu	37	chr2	141143525	141143525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcacaccgccagtgatcggGaatacagttgttgtttttac	10	13	9	9	2	1	1	1	1	0	0	2	2	1	2	2	1	2	3	2	1	3	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:141143525G>A	ENST00000389484.3	-	67	11439	c.10468C>T	c.(10468-10470)Ccc>Tcc	p.P3490S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3490	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGATCGGGAATACAGTTG	0.378										TSP Lung(27;0.18)			18	84					0	0	0	0	A	141143525	G	A	141143525	3	1	457	1	0	0	0	0	1	0	0	0	9019	1174	41	2	3431	2	LRP1B	2	141143525	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	4631738	141143525	102055848	23	88896											
VGLL4	9686	broad.mit.edu	37	chr3	11684932	11684932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgtagcacagaatgccgaTattgttgttcatcttgtcca	9	15	8	9	2	2	1	1	0	1	1	4	2	3	1	2	0	2	4	2	0	3	7			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:11684932T>C	ENST00000430365.2	-	1	466	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	VGLL4_ENST00000404339.1_Intron|VGLL4_ENST00000273038.3_Intron	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		AGAATGCCGATATTGTTGTTC	0.473													37	64					0	0	0	0	C	11684932	T	C	11684932	3	2	457	1	0	0	0	0	1	0	0	0	17257	1406	49	5	873	5	VGLL4	3	11684932	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		11684932	186337498	24	88897											
PDZRN3	23024	broad.mit.edu	37	chr3	73434064	73434064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtatctgtggtcccaccGtcttcgtcgtgcttcttctg	2	16	10	13	3	4	0	0	0	4	0	7	0	5	0	2	1	1	3	2	1	1	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:73434064G>A	ENST00000263666.4	-	10	1767	c.1653C>T	c.(1651-1653)gaC>gaT	p.D551D	PDZRN3_ENST00000462146.2_Silent_p.D208D|PDZRN3_ENST00000535920.1_Silent_p.D273D|PDZRN3_ENST00000479530.1_Silent_p.D268D|PDZRN3_ENST00000466780.1_Silent_p.D208D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	551							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGTCCCACCGTCTTCGTCGT	0.567													9	43					0	0	0	0	A	73434064	G	A	73434064	2	1	457	1	0	0	0	0	0	0	0	1	11780	1136	40	1		1	PDZRN3	3	73434064	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	61749132	73434064	124588366	25	88898											
CRYBG3	131544	broad.mit.edu	37	chr3	97596560	97596560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcgtgttaccttccaGttgccagatccttccatcac	7	11	10	13	1	1	1	1	0	0	1	4	2	4	2	5	2	3	2	5	2	1	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:97596560G>T	ENST00000182096.4	+	1	742	c.678G>T	c.(676-678)caG>caT	p.Q226H		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTACCTTCCAGTTGCCAGATC	0.473													10	57					1.76689e-08	1.91155e-08	1	0	T	97596560	G	T	97596560	3	4	457	1	0	0	0	0	1	0	0	0	3943	1020	36	4	680	4	CRYBG3	3	97596560	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	24162496	97596560	100425870	26	88899											
GPR156	165829	broad.mit.edu	37	chr3	119912200	119912200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatcccaaagaggtaaGcgctactgtaagtgagacaa	15	7	10	9	1	0	3	0	2	0	2	1	4	1	3	2	1	2	3	2	1	6	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:119912200G>T	ENST00000464295.1	-	4	750	c.305C>A	c.(304-306)gCt>gAt	p.A102D	GPR156_ENST00000461057.1_Missense_Mutation_p.A102D|GPR156_ENST00000315843.3_Missense_Mutation_p.A102D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	102						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAAGAGGTAAGCGCTACTGTA	0.413													8	81					0.27861	0.27861	1	0	T	119912200	G	T	119912200	3	4	457	1	0	0	0	0	1	0	0	0	6710	971	34	4	2167	4	GPR156	3	119912200	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	22315640	119912200	78110230	27	88900											
MUC13	56667	broad.mit.edu	37	chr3	124646558	124646558	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaggtagctaatgaatttAcatttgtggttgactcactg	11	14	10	6	0	1	3	1	2	0	1	1	3	1	3	0	2	2	3	0	2	4	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:124646558A>C	ENST00000311075.3	-	2	370	c.332T>G	c.(331-333)gTa>gGa	p.V111G		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	111	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATGAATTTACATTTGTGGT	0.408													101	214					0	0	0	0	C	124646558	A	C	124646558	3	2	457	1	0	0	0	0	1	0	0	0	10041	391	14	5	1243	5	MUC13	3	124646558	Missense_Mutation	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	4734358	124646558	73375872	28	88901											
ABTB1	80325	broad.mit.edu	37	chr3	127396654	127396654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgacgtcttcactcacGtgctctactacatgtacagc	9	10	6	16	3	4	0	2	0	2	0	4	1	4	0	1	0	5	2	1	0	3	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:127396654G>A	ENST00000468137.1	+	9	1187	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	ABTB1_ENST00000393363.3_Missense_Mutation_p.V191M|ABTB1_ENST00000232744.8_Missense_Mutation_p.V333M|ABTB1_ENST00000453791.2_Missense_Mutation_p.V191M			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	333						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTTCACTCACGTGCTCTACTA	0.647													7	35					0	0	0	0	A	127396654	G	A	127396654	3	1	457	1	0	0	0	0	1	0	0	0	102	1145	40	1	1035	1	ABTB1	3	127396654	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	2750096	127396654	70625776	29	88902											
MECOM	2122	broad.mit.edu	37	chr3	168807816	168807816	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatgtcttgcaactcatctCcagggcactggtttcttcat	7	14	9	11	0	5	0	2	0	3	0	6	1	5	1	1	3	2	3	1	3	1	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:168807816C>A	ENST00000464456.1	-	13	3982	c.2782G>T	c.(2782-2784)Gag>Tag	p.E928*	MECOM_ENST00000264674.3_Nonsense_Mutation_p.E1002*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.E937*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.E1116*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.E938*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.E928*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.E937*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.E938*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAACTCATCTCCAGGGCACTG	0.428													23	546					2.27731e-05	2.39376e-05	1	0	A	168807816	C	A	168807816	4	1	457	1	0	0	0	0	0	1	0	0	9491	864	30	2	358	2	MECOM	3	168807816	Nonsense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	41411162	168807816	29214614	30	88903											
MYNN	55892	broad.mit.edu	37	chr3	169504378	169504378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctgcctgtcacggataCtcagtctcctacatcagata	9	12	7	13	1	5	1	3	0	2	1	6	2	5	2	2	1	3	1	2	1	3	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:169504378C>G	ENST00000349841.5	+	8	2408	c.1745C>G	c.(1744-1746)aCt>aGt	p.T582S	MYNN_ENST00000544106.1_Missense_Mutation_p.T553S|MYNN_ENST00000356716.4_Missense_Mutation_p.T582S	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	582						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTCACGGATACTCAGTCTCCT	0.398													12	233					0	0	0	0	G	169504378	C	G	169504378	3	3	457	1	0	0	0	0	1	0	0	0	10131	565	20	4	1771	4	MYNN	3	169504378	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	696562	169504378	28518052	31	88904											
USP13	8975	broad.mit.edu	37	chr3	179439191	179439191	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatgactttgtctcagaCagagaatgggctccaggaca	11	10	11	9	1	1	3	1	1	1	2	4	6	2	4	1	2	0	1	1	2	1	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:179439191C>T	ENST00000263966.3	+	8	1373	c.900_splice	c.e8-1	p.T301_splice	USP13_ENST00000496897.1_Splice_Site_p.T236_splice|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	301					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTGTCTCAGACAGAGAATGGG	0.453													19	295					0	0	0	0	T	179439191	C	T	179439191	5	4	457	1	0	0	0	0	0	0	1	0	17140	492	17	4	932	4	USP13	3	179439191	Splice_Site	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	9934813	179439191	18583239	32	88905											
LIMCH1	22998	broad.mit.edu	37	chr4	41652416	41652416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttttataggtagacGggaaagtcagtgtgaatgga	11	12	14	4	1	2	2	1	1	1	1	2	4	2	4	0	4	0	2	0	4	5	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:41652416G>A	ENST00000313860.7	+	13	1726	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	LIMCH1_ENST00000511496.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G546R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G943R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G404R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G392R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G387R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G392R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	558					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATAGGTAGACGGGAAAGTCAG	0.433													11	47					0	0	0	0	A	41652416	G	A	41652416	3	1	457	1	0	0	0	0	1	0	0	0	8851	1116	39	1	1750	1	LIMCH1	4	41652416	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08		41652416	149501860	33	88906											
CORIN	10699	broad.mit.edu	37	chr4	47597912	47597912	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaacaagaggcccaccGctgtcaccctgcaataagta	14	6	7	14	1	2	1	2	0	0	1	2	1	2	1	3	1	2	3	3	1	5	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:47597912G>A	ENST00000273857.4	-	22	2954	c.2955C>T	c.(2953-2955)agC>agT	p.S985S	CORIN_ENST00000508498.1_Silent_p.S846S|CORIN_ENST00000502252.1_Silent_p.S918S|CORIN_ENST00000505909.1_Silent_p.S948S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	985	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAGGCCCACCGCTGTCACCCT	0.502													8	46					0	0	0	0	A	47597912	G	A	47597912	2	1	457	1	0	0	0	0	0	0	0	1	3782	1078	38	1		1	CORIN	4	47597912	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	5945496	47597912	143556364	34	88907											
FRYL	285527	broad.mit.edu	37	chr4	48542418	48542418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtttggagacagaaatgaGtttactgaggaggtgcacgg	12	10	15	4	1	0	4	0	2	0	2	0	6	0	5	0	4	2	3	0	4	2	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:48542418G>C	ENST00000358350.4	-	46	6851	c.6247C>G	c.(6247-6249)Ctc>Gtc	p.L2083V	FRYL_ENST00000503238.1_Missense_Mutation_p.L2083V|FRYL_ENST00000537810.1_Missense_Mutation_p.L2083V|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2083					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAGAAATGAGTTTACTGAGG	0.393													33	65					0	0	0	0	C	48542418	G	C	48542418	3	2	457	1	0	0	0	0	1	0	0	0	6112	1029	36	4	2870	4	FRYL	4	48542418	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	944506	48542418	142611858	35	88908											
EPHA5	2044	broad.mit.edu	37	chr4	66361134	66361134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgtgggtggatcagaCtctctcctgaaataatcctt	9	13	9	10	0	2	2	1	1	1	1	5	3	4	3	3	2	0	0	3	2	2	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:66361134C>G	ENST00000273854.3	-	4	1638	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	EPHA5_ENST00000511294.1_Missense_Mutation_p.E346D|EPHA5_ENST00000354839.4_Missense_Mutation_p.E346D|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	346	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTGGATCAGACTCTCTCCTGA	0.468										TSP Lung(17;0.13)			44	94					0	0	0	0	G	66361134	C	G	66361134	3	3	457	1	0	0	0	0	1	0	0	0	5208	564	20	4	2135	4	EPHA5	4	66361134	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	17818716	66361134	124793142	36	88909											
UGT2A1	10941	broad.mit.edu	37	chr4	70513156	70513156	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctatatatttcaaatgtCagagatgggttagaggttgg	12	13	11	5	0	2	2	2	0	0	2	2	3	2	2	1	3	0	2	1	3	5	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:70513156C>G	ENST00000503640.1	-	1	262	c.207G>C	c.(205-207)ctG>ctC	p.L69L	UGT2A1_ENST00000512704.1_Silent_p.L69L|UGT2A1_ENST00000514019.1_Silent_p.L69L|UGT2A1_ENST00000286604.4_Silent_p.L69L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	69					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTCAAATGTCAGAGATGGGT	0.383													10	64					0	0	0	0	G	70513156	C	G	70513156	2	3	457	1	0	0	0	0	0	0	0	1	17049	813	29	2		2	UGT2A1	4	70513156	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	4152022	70513156	120641120	37	88910											
GRSF1	2926	broad.mit.edu	37	chr4	71691080	71691080	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcaaagtgcacatcagcTtctccagtggccttcccact	8	11	7	15	0	3	0	2	0	2	0	6	0	4	0	3	1	2	2	3	1	1	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:71691080T>A	ENST00000254799.6	-	8	1443	c.1326A>T	c.(1324-1326)gaA>gaT	p.E442D	GRSF1_ENST00000545193.1_Missense_Mutation_p.E324D|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.E280D|GRSF1_ENST00000439371.1_Missense_Mutation_p.E280D	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	442	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCACATCAGCTTCTCCAGTGG	0.483													7	31					0	0	0	0	A	71691080	T	A	71691080	3	1	457	1	0	0	0	0	1	0	0	0	6859	1606	56	5	124	5	GRSF1	4	71691080	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	1177924	71691080	119463196	38	88911											
UNC5C	8633	broad.mit.edu	37	chr4	96469913	96469913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggagccagtgccgctggcGctgagcagggccagggcagg	6	3	20	12	3	0	1	0	1	0	0	0	2	0	2	3	5	3	4	3	5	0	0			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:96469913G>A	ENST00000453304.1	-	1	444	c.96C>T	c.(94-96)agC>agT	p.S32S	UNC5C_ENST00000506749.1_Silent_p.S32S|UNC5C_ENST00000504962.1_Silent_p.S32S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	32					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCCGCTGGCGCTGAGCAGGG	0.667													11	37					0	0	0	0	A	96469913	G	A	96469913	2	1	457	1	0	0	0	0	0	0	0	1	17089	1078	38	1		1	UNC5C	4	96469913	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	24778833	96469913	94684363	39	88912											
NDST4	64579	broad.mit.edu	37	chr4	115997421	115997421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgaagccccagatcctGaatcaccgttgcaaagagtg	13	8	9	11	1	2	4	2	2	0	2	3	4	3	4	4	0	2	2	4	0	3	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:115997421G>T	ENST00000264363.2	-	2	1450	c.772C>A	c.(772-774)Cag>Aag	p.Q258K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	258	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCCAGATCCTGAATCACCGTT	0.408													26	91					1.64293e-13	1.80918e-13	1	0	T	115997421	G	T	115997421	3	4	457	1	0	0	0	0	1	0	0	0	10328	1299	45	2	1898	2	NDST4	4	115997421	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	19527508	115997421	75156855	40	88913											
C5orf55	116349	broad.mit.edu	37	chr5	442672	442672	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccccggaaacatccggTggccacccatcccactggca	8	4	12	17	2	0	0	0	0	0	0	2	1	2	1	6	6	1	1	6	6	1	0			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:442672T>G	ENST00000408966.2	-	1	586	c.266A>C	c.(265-267)cAc>cCc	p.H89P		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	89						extracellular region				large_intestine(1)|lung(2)	3						AAACATCCGGTGGCCACCCAT	0.647													130	132					0	0	0	0	G	442672	T	G	442672	3	3	457	1	0	0	0	0	1	0	0	0	2332	1696	59	5	97	5	C5orf55	5	442672	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		442672	180472588	41	88914											
DNAH5	1767	broad.mit.edu	37	chr5	13841233	13841233	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcatctgaattcctaataAtccaaccttatggaaataaa	17	13	3	8	0	2	1	1	1	1	0	4	2	4	2	3	1	1	0	3	1	9	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:13841233A>G	ENST00000265104.4	-	34	5595	c.5491T>C	c.(5491-5493)Tta>Cta	p.L1831L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1831	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCCTAATAATCCAACCTTA	0.323									Kartagener syndrome				16	56					0	0	0	0	G	13841233	A	G	13841233	2	3	457	1	0	0	0	0	0	0	0	1	4641	98	4	5		5	DNAH5	5	13841233	Silent	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	13398561	13841233	167074027	42	88915											
NIPBL	25836	broad.mit.edu	37	chr5	37020601	37020601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagtggtttcgagacaCaactctggaaacagaaaaag	16	6	10	9	1	1	2	0	0	1	2	2	4	1	3	1	2	3	1	1	2	4	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:37020601C>G	ENST00000282516.8	+	26	5550	c.5051C>G	c.(5050-5052)aCa>aGa	p.T1684R	NIPBL_ENST00000448238.2_Missense_Mutation_p.T1684R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1684					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCGAGACACAACTCTGGAA	0.353													29	117					0	0	0	0	G	37020601	C	G	37020601	3	3	457	1	0	0	0	0	1	0	0	0	10498	478	17	4	5149	4	NIPBL	5	37020601	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	23179368	37020601	143894659	43	88916											
EGFLAM	133584	broad.mit.edu	37	chr5	38427339	38427339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgctttgactgtggctctgGgaccggtgtcctcaggtgag	4	11	15	11	2	2	2	1	2	1	0	3	3	3	3	3	4	0	2	3	4	0	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:38427339G>A	ENST00000322350.5	+	14	2385	c.2039G>A	c.(2038-2040)gGg>gAg	p.G680E	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	680	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGGCTCTGGGACCGGTGTC	0.502													156	215					0	0	0	0	A	38427339	G	A	38427339	3	1	457	1	0	0	0	0	1	0	0	0	5002	1232	43	4	2107	4	EGFLAM	5	38427339	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	1406738	38427339	142487921	44	88917											
MSH3	4437	broad.mit.edu	37	chr5	80171626	80171626	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataatgcacaagacctgcAgaagtggacagaggagttca	15	6	12	8	0	1	3	1	0	0	3	1	5	1	5	1	2	2	4	1	2	3	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:80171626A>T	ENST00000265081.6	+	24	3439	c.3359A>T	c.(3358-3360)cAg>cTg	p.Q1120L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1120					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAAGACCTGCAGAAGTGGACA	0.328								Mismatch excision repair (MMR)					11	38					0	0	0	0	T	80171626	A	T	80171626	3	4	457	1	0	0	0	0	1	0	0	0	9941	188	7	5	3453	5	MSH3	5	80171626	Missense_Mutation	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	41744287	80171626	100743634	45	88918											
PCDHB15	56121	broad.mit.edu	37	chr5	140627222	140627222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccgtctacctggtggtGgcattggcctcggtgtcttc	3	14	12	12	2	2	0	0	0	2	0	4	0	2	0	3	5	2	1	3	5	2	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:140627222G>A	ENST00000231173.3	+	1	2076	c.2076G>A	c.(2074-2076)gtG>gtA	p.V692V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		692					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGGTGGTGGCATTGGCCT	0.662													42	160					0	0	0	0	A	140627222	G	A	140627222	2	1	457	1	0	0	0	0	0	0	0	1	11611	1335	47	4		4	PCDHB15	5	140627222	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	60455596	140627222	40288038	46	88919											
FGFR4	2264	broad.mit.edu	37	chr5	176520484	176520484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctcctccagcggcccCgccttgctcgccggcctcgt	1	9	10	21	6	1	0	0	0	1	0	6	0	3	0	7	2	2	1	7	2	0	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:176520484C>T	ENST00000393648.2	+	10	1357	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	FGFR4_ENST00000292410.3_Silent_p.P403P|FGFR4_ENST00000502906.1_Silent_p.P443P|FGFR4_ENST00000393637.1_Silent_p.P403P|FGFR4_ENST00000292408.4_Silent_p.P443P			P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	40					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			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)	CCAGCGGCCCCGCCTTGCTCG	0.642										TSP Lung(9;0.080)			26	117					0	0	0	0	T	176520484	C	T	176520484	3	4	457	1	0	0	0	0	1	0	0	0	5913	639	23	1	1433	1	FGFR4	5	176520484	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	35893262	176520484	4394776	47	88920											
PAQR8	85315	broad.mit.edu	37	chr6	52268170	52268170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagccttacatccgcacCggctaccgccccacggggca	7	4	12	18	5	0	0	0	0	0	0	1	1	1	1	6	4	3	3	6	4	2	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:52268170C>T	ENST00000442253.2	+	2	333	c.159C>T	c.(157-159)acC>acT	p.T53T	PAQR8_ENST00000360726.3_Silent_p.T53T	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	53					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ACATCCGCACCGGCTACCGCC	0.607													24	49					0	0	0	0	T	52268170	C	T	52268170	2	4	457	1	0	0	0	0	0	0	0	1	11512	639	23	1		1	PAQR8	6	52268170	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08		52268170	118846897	48	88921											
CTAGE9	643854	broad.mit.edu	37	chr6	132032136	132032136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccccaggtagggctgagGggtagcaccaggctcctcca	8	5	14	14	0	0	1	0	1	0	0	2	1	2	1	5	5	2	5	5	5	2	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:132032136G>A	ENST00000314099.8	-	1	70	c.22C>T	c.(22-24)Cct>Tct	p.P8S	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	8						integral to membrane				endometrium(1)|lung(1)	2						TAGGGCTGAGGGGTAGCACCA	0.587													8	38					0	0	0	0	A	132032136	G	A	132032136	3	1	457	1	0	0	0	0	1	0	0	0	4028	1232	43	4	2315	4	CTAGE9	6	132032136	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	79763966	132032136	39082931	49	88922											
RADIL	55698	broad.mit.edu	37	chr7	4917483	4917483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagggcgtaccgctccagCgcctccttcaccagctcacg	6	7	9	19	4	2	0	2	0	0	0	5	0	5	0	6	1	3	3	6	1	1	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:4917483C>T	ENST00000399583.3	-	2	475	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RADIL_ENST00000536091.1_Silent_p.A96A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	96	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACCGCTCCAGCGCCTCCTTCA	0.682													30	62					0	0	0	0	T	4917483	C	T	4917483	2	4	457	1	0	0	0	0	0	0	0	1	13079	755	27	1		1	RADIL	7	4917483	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08		4917483	154221180	50	88923											
COL28A1	340267	broad.mit.edu	37	chr7	7420445	7420445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatccaggctctccaatttCtcctttatcacctttctttc	7	17	3	14	0	4	1	1	0	3	1	8	1	5	1	4	1	0	1	4	1	2	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:7420445C>T	ENST00000399429.3	-	29	2394	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	752	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTCCAATTTCTCCTTTATCA	0.408													21	152					0	0	0	0	T	7420445	C	T	7420445	3	4	457	1	0	0	0	0	1	0	0	0	3716	922	32	2	1151	2	COL28A1	7	7420445	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	2502962	7420445	151718218	51	88924											
ABCB5	340273	broad.mit.edu	37	chr7	20782527	20782527	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaagggaatttagagtttCgagaagtctctttcttctat	10	16	10	5	1	3	3	0	1	3	2	5	5	3	4	0	1	0	1	0	1	5	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:20782527C>T	ENST00000404938.2	+	25	3704	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R573*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	573					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTAGAGTTTCGAGAAGTCTC	0.453													9	33					0	0	0	0	T	20782527	C	T	20782527	4	4	457	1	0	0	0	0	0	1	0	0	44	876	31	1	3187	1	ABCB5	7	20782527	Nonsense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	13362082	20782527	138356136	52	88925											
STK31	56164	broad.mit.edu	37	chr7	23826205	23826205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagagcttggagagaagctGaaggagactcagggttactg	13	8	15	5	0	1	4	1	1	0	3	1	7	1	5	0	3	3	3	0	3	4	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:23826205G>A	ENST00000354639.3	+	19	2748	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	STK31_ENST00000355870.3_Missense_Mutation_p.E785K|STK31_ENST00000428484.1_Missense_Mutation_p.E762K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E785K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	785	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGAGAAGCTGAAGGAGACTC	0.423													22	36					0	0	0	0	A	23826205	G	A	23826205	3	1	457	1	0	0	0	0	1	0	0	0	15386	1291	45	2	2427	2	STK31	7	23826205	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	3043678	23826205	135312458	53	88926											
ABCA13	154664	broad.mit.edu	37	chr7	48545978	48545978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggccttgctgaacaaGgacaagatgtgagttgatgg	11	8	17	5	0	0	4	0	3	0	1	0	6	0	6	1	5	2	2	1	5	3	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:48545978G>A	ENST00000435803.1	+	49	13362	c.13338G>A	c.(13336-13338)aaG>aaA	p.K4446K	ABCA13_ENST00000544596.1_Silent_p.K176K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4446				K -> E (in Ref. 1; AAP13576 and 4; AAO59914).	transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTGAACAAGGACAAGATGT	0.458													22	41					0	0	0	0	A	48545978	G	A	48545978	2	1	457	1	0	0	0	0	0	0	0	1	31	991	35	4		4	ABCA13	7	48545978	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	24719773	48545978	110592685	54	88927											
RFC2	5982	broad.mit.edu	37	chr7	73646504	73646504	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccatctgcaaaagagAgttcactccttccgctattt	9	12	7	13	1	2	1	1	0	1	1	4	2	4	1	4	0	2	3	4	0	3	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:73646504A>C	ENST00000055077.3	-	11	1057	c.997T>G	c.(997-999)Tct>Gct	p.S333A	RFC2_ENST00000352131.3_Missense_Mutation_p.S299A	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	333					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGCAAAAGAGAGTTCACTCCT	0.448													51	148					0	0	0	0	C	73646504	A	C	73646504	3	2	457	1	0	0	0	0	1	0	0	0	13327	304	11	5	71	5	RFC2	7	73646504	Missense_Mutation	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	25100526	73646504	85492159	55	88928											
ABCB1	5243	broad.mit.edu	37	chr7	87170747	87170747	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaagttactattctgtcGttttgtttcaggatcatcaa	12	16	6	7	1	4	0	3	0	1	0	5	1	4	1	0	1	2	3	0	1	5	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:87170747G>A	ENST00000265724.3	-	19	2662	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.R685*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	749	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R749*(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)	CTATTCTGTCGTTTTGTTTCA	0.318													17	63					0	0	0	0	A	87170747	G	A	87170747	4	1	457	1	0	0	0	0	0	1	0	0	40	1153	40	1	1641	1	ABCB1	7	87170747	Nonsense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	13524243	87170747	71967916	56	88929											
RUNDC3B	154661	broad.mit.edu	37	chr7	87369146	87369146	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaattgtcttgggtgaagaAgcaaatatgcttgctggcat	11	12	12	6	0	1	2	0	1	1	1	1	2	1	2	0	2	3	5	0	2	5	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:87369146A>T	ENST00000338056.3	+	6	960	c.549A>T	c.(547-549)gaA>gaT	p.E183D	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E166D|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E166D	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	183	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGGGTGAAGAAGCAAATATGC	0.303													13	34					0	0	0	0	T	87369146	A	T	87369146	3	4	457	1	0	0	0	0	1	0	0	0	13830	69	3	5	571	5	RUNDC3B	7	87369146	Missense_Mutation	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	198399	87369146	71769517	57	88930											
TRIM4	89122	broad.mit.edu	37	chr7	99507277	99507277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attacgctgagacttaagaaGtttctcctgccagcagaaac	13	10	8	10	1	1	3	0	1	1	3	2	4	1	3	2	0	4	3	2	0	4	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:99507277G>T	ENST00000355947.2	-	3	607	c.478C>A	c.(478-480)Ctt>Att	p.L160I	TRIM4_ENST00000349062.2_Missense_Mutation_p.L134I|TRIM4_ENST00000354241.5_Missense_Mutation_p.L134I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	160					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GACTTAAGAAGTTTCTCCTGC	0.378													9	23					0.000274275	0.000281894	1	0	T	99507277	G	T	99507277	3	4	457	1	0	0	0	0	1	0	0	0	16609	1029	36	4	1044	4	TRIM4	7	99507277	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	12138131	99507277	59631386	58	88931											
DOCK4	9732	broad.mit.edu	37	chr7	111462468	111462468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctttggaaacatctccggGcgtatcaatattcggaacac	11	11	8	11	3	2	0	1	0	1	0	5	2	3	2	2	3	2	1	2	3	5	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:111462468G>A	ENST00000428084.1	-	27	3152	c.2880C>T	c.(2878-2880)cgC>cgT	p.R960R	DOCK4_ENST00000437633.1_Silent_p.R960R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	960					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACATCTCCGGGCGTATCAATA	0.368													4	27					0	0	0	0	A	111462468	G	A	111462468	2	1	457	1	0	0	0	0	0	0	0	1	4725	1190	42	4		4	DOCK4	7	111462468	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	11955191	111462468	47676195	59	88932											
NRF1	4899	broad.mit.edu	37	chr7	129350403	129350404	+	Frame_Shift_Ins	INS	-	-	T																															ccctgatggcactgtctcacINSttatccaggtgagtaaacct																										TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:129350403_129350404insT	ENST00000393232.1	+	7	1072_1073	c.955_956insT	c.(955-957)tatfs	p.Y319fs	NRF1_ENST00000393230.2_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000311967.2_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000393231.3_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000353868.4_Intron|NRF1_ENST00000223190.4_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000539636.1_Frame_Shift_Ins_p.Y158fs	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	319	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CACTGTCTCACTTATCCAGGTG	0.49													24	39	---	---	---	---					T	129350404	-	T	129350403	7	5	457	1	0	1	1	0	0	0	0	0	10717	565	20	0	977	0	NRF1	7	129350403	Frame_Shift_Ins	INS	-	TCGA-P3-A5Q6-01A-11D-A28R-08	17887935	129350403	29788260	60	88933											
ZNF777	27153	broad.mit.edu	37	chr7	149153094	149153094	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactggggaacgacagaggtGatgagcgttggttctccatg	9	9	15	8	2	1	3	0	2	1	1	2	5	1	4	1	4	2	2	1	4	1	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:149153094G>C	ENST00000247930.4	-	2	343	c.20C>G	c.(19-21)tCa>tGa	p.S7*		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGACAGAGGTGATGAGCGTTG	0.517													41	22					0	0	0	0	C	149153094	G	C	149153094	4	2	457	1	0	0	0	0	0	1	0	0	18243	1294	45	2	2495	2	ZNF777	7	149153094	Nonsense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	19802691	149153094	9985569	61	88934											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					-	6673270	A	-	6673270	6	5	457	0	1	1	0	1	0	0	0	0	17530	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-P3-A5Q6-01A-11D-A28R-08		6673270	139690752	62	88935											
DPYSL2	1808	broad.mit.edu	37	chr8	26484164	26484164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctcgtgtacatggctttCaaagatcgcttccagctaac	9	13	7	12	2	1	1	1	0	0	1	5	1	3	1	2	1	3	4	2	1	3	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:26484164C>G	ENST00000311151.5	+	5	922	c.510C>G	c.(508-510)ttC>ttG	p.F170L	DPYSL2_ENST00000521913.1_Missense_Mutation_p.F134L|DPYSL2_ENST00000523027.1_Missense_Mutation_p.F134L	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	170					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		ACATGGCTTTCAAAGATCGCT	0.438													14	46					0	0	0	0	G	26484164	C	G	26484164	3	3	457	1	0	0	0	0	1	0	0	0	4783	825	29	2	528	2	DPYSL2	8	26484164	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	19810894	26484164	119879858	63	88936											
SFRP1	6422	broad.mit.edu	37	chr8	41164294	41164294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacggttccaagccaggctGagaagggcgccgaccagtgg	9	4	17	11	3	0	1	0	1	0	1	1	4	1	2	4	5	1	2	4	5	2	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:41164294G>A	ENST00000379845.3	-	1	215	c.83C>T	c.(82-84)tCa>tTa	p.S28L	SFRP1_ENST00000220772.3_Intron			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	0					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			AAGCCAGGCTGAGAAGGGCGC	0.582													5	20					0	0	0	0	A	41164294	G	A	41164294	3	1	457	1	0	0	0	0	1	0	0	0	14248	1305	45	2		2	SFRP1	8	41164294	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	14680130	41164294	105199728	64	88937											
ZFHX4	79776	broad.mit.edu	37	chr8	77617817	77617817	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgatagtattggtaacaaAgatttccctctcttaaacca	14	12	5	10	1	1	1	0	0	1	1	3	2	2	1	3	1	2	2	3	1	6	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:77617817A>C	ENST00000521891.2	+	2	1942	c.1494A>C	c.(1492-1494)aaA>aaC	p.K498N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K498N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K498N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K498N|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	498						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGTAACAAAGATTTCCCTC	0.428										HNSCC(33;0.089)			7	23					0	0	0	0	C	77617817	A	C	77617817	3	2	457	1	0	0	0	0	1	0	0	0	17730	69	3	5	1496	5	ZFHX4	8	77617817	Missense_Mutation	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	36453523	77617817	68746205	65	88938											
DECR1	1666	broad.mit.edu	37	chr8	91057169	91057169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggactgtagaagaactCgcaaatcttgctgctttcct	9	12	10	10	1	1	2	0	0	1	2	3	3	2	3	1	2	3	4	1	2	4	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:91057169C>T	ENST00000522161.1	+	10	1487	c.804C>T	c.(802-804)ctC>ctT	p.L268L	DECR1_ENST00000220764.2_Silent_p.L277L			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	277					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAGAAGAACTCGCAAATCTTG	0.423													28	91					0	0	0	0	T	91057169	C	T	91057169	2	4	457	1	0	0	0	0	0	0	0	1	4414	871	31	1		1	DECR1	8	91057169	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	13439352	91057169	55306853	66	88939											
ZFAT	57623	broad.mit.edu	37	chr8	135533158	135533158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctccatcaatttccaccaCcttcaagccatgtttgttct	8	15	4	14	0	4	0	2	0	2	0	6	0	5	0	5	0	1	2	5	0	2	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:135533158C>G	ENST00000520727.1	-	14	3465	c.3166G>C	c.(3166-3168)Gtg>Ctg	p.V1056L	ZFAT_ENST00000520356.1_Missense_Mutation_p.V1056L|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1068L|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1056L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1056L|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1006L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATTTCCACCACCTTCAAGCCA	0.413													5	32					0	0	0	0	G	135533158	C	G	135533158	3	3	457	1	0	0	0	0	1	0	0	0	17727	507	18	4	545	4	ZFAT	8	135533158	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	44475989	135533158	10830864	67	88940											
VCP	7415	broad.mit.edu	37	chr9	35059572	35059572	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgggatgtagatgagcTgatcaagacggccaggtctg	11	8	16	6	1	2	4	1	2	1	2	2	6	2	5	1	3	1	2	1	3	3	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:35059572T>A	ENST00000358901.6	-	14	2817	c.1922A>T	c.(1921-1923)cAg>cTg	p.Q641L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	641					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTAGATGAGCTGATCAAGACG	0.517													34	35					0	0	0	0	A	35059572	T	A	35059572	3	1	457	1	0	0	0	0	1	0	0	0	17236	1580	55	5	514	5	VCP	9	35059572	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		35059572	106153859	68	88941											
FOXB2	442425	broad.mit.edu	37	chr9	79634636	79634636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcttacatctcgctgacCgccatggcaatccagcactc	9	10	6	16	2	2	1	0	1	2	0	5	1	3	1	3	1	3	3	3	1	3	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:79634636C>T	ENST00000376708.1	+	1	66	c.66C>T	c.(64-66)acC>acT	p.T22T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	22					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						TCTCGCTGACCGCCATGGCAA	0.642													8	23					0	0	0	0	T	79634636	C	T	79634636	2	4	457	1	0	0	0	0	0	0	0	1	6038	639	23	1		1	FOXB2	9	79634636	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	44575064	79634636	61578795	69	88942											
BICD2	23299	broad.mit.edu	37	chr9	95482937	95482937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctccagctgccgctctGagatctccttgaggcggatg	5	10	11	15	2	2	2	0	2	2	1	5	4	4	3	5	2	2	2	5	2	0	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:95482937G>A	ENST00000356884.6	-	4	774	c.707C>T	c.(706-708)tCa>tTa	p.S236L	BICD2_ENST00000375512.3_Missense_Mutation_p.S236L	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	236					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCCGCTCTGAGATCTCCTT	0.582													31	37					0	0	0	0	A	95482937	G	A	95482937	3	1	457	1	0	0	0	0	1	0	0	0	1434	1294	45	2	1886	2	BICD2	9	95482937	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	15848301	95482937	45730494	70	88943											
LPAR1	1902	broad.mit.edu	37	chr9	113704084	113704084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcaatagccagtaagttgGccacagatgccgtcaggctg	10	9	12	10	1	1	1	1	0	0	1	1	1	1	1	3	2	3	4	3	2	3	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:113704084G>T	ENST00000374431.3	-	4	793	c.410C>A	c.(409-411)gCc>gAc	p.A137D	LPAR1_ENST00000541779.1_Missense_Mutation_p.A138D|LPAR1_ENST00000358883.4_Missense_Mutation_p.A137D|LPAR1_ENST00000538760.1_Missense_Mutation_p.A138D|LPAR1_ENST00000374430.2_Missense_Mutation_p.A137D	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	137					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTAAGTTGGCCACAGATGC	0.537													70	172					2.02627e-32	2.31395e-32	1	0	T	113704084	G	T	113704084	3	4	457	1	0	0	0	0	1	0	0	0	8968	1203	42	4	692	4	LPAR1	9	113704084	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	18221147	113704084	27509347	71	88944											
CUBN	8029	broad.mit.edu	37	chr10	17032492	17032492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggagcctgtggcCccagacagctctccaccaca	9	6	10	16	0	1	2	0	1	1	1	2	3	1	3	5	2	3	2	5	2	1	0			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:17032492C>T	ENST00000377833.4	-	29	4256	c.4191G>A	c.(4189-4191)ggG>ggA	p.G1397G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1397	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTGTGGCCCCAGACAGCT	0.507													4	61					0	0	0	0	T	17032492	C	T	17032492	2	4	457	1	0	0	0	0	0	0	0	1	4083	610	22	4		4	CUBN	10	17032492	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08		17032492	118502255	72	88945											
ARHGAP21	57584	broad.mit.edu	37	chr10	24883912	24883912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattttctgccactgtcttCagatgagctgaaaggaactt	11	13	9	8	0	3	3	1	2	2	1	3	5	3	4	1	1	3	1	1	1	3	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:24883912C>T	ENST00000396432.2	-	21	4329	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L	ARHGAP21_ENST00000320481.6_Silent_p.L1068L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1280	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACTGTCTTCAGATGAGCTG	0.313													20	25					0	0	0	0	T	24883912	C	T	24883912	2	4	457	1	0	0	0	0	0	0	0	1	873	813	29	2		2	ARHGAP21	10	24883912	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	7851420	24883912	110650835	73	88946											
ZNF33B	7582	broad.mit.edu	37	chr10	43088925	43088925	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaggtttatctcctatGtgagttctctgatgctgtgt	7	18	9	7	0	3	2	1	2	2	0	5	2	3	2	1	1	1	3	1	1	3	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:43088925G>A	ENST00000359467.3	-	5	1587	c.1473C>T	c.(1471-1473)caC>caT	p.H491H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	491						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATCTCCTATGTGAGTTCTCT	0.398													12	76					0	0	0	0	A	43088925	G	A	43088925	2	1	457	1	0	0	0	0	0	0	0	1	17950	1368	48	4		4	ZNF33B	10	43088925	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	18205013	43088925	92445822	74	88947											
PPP3CB	5532	broad.mit.edu	37	chr10	75234717	75234717	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcagtaaggtgtctgcaTtcatggttgcctctcagaag	9	14	10	8	0	4	1	3	0	2	1	5	1	4	1	1	2	2	3	1	2	3	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:75234717T>A	ENST00000360663.5	-	4	594	c.483A>T	c.(481-483)gaA>gaT	p.E161D	PPP3CB_ENST00000394822.2_Missense_Mutation_p.E179D|PPP3CB_ENST00000545874.1_Missense_Mutation_p.E75D|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E161D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E161D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E161D			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	161	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GGTGTCTGCATTCATGGTTGC	0.353													15	23					0	0	0	0	A	75234717	T	A	75234717	3	1	457	1	0	0	0	0	1	0	0	0	12474	1490	52	5	1138	5	PPP3CB	10	75234717	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	32145792	75234717	60300030	75	88948											
PLCE1	51196	broad.mit.edu	37	chr10	95791949	95791949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagtaatggaacccccGtcaacagtggagataaggca	14	5	14	8	1	1	2	1	0	0	2	1	5	1	3	2	4	2	2	2	4	4	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:95791949G>A	ENST00000260766.3	+	2	1780	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	PLCE1_ENST00000371380.2_Silent_p.P382P	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	382					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAACCCCCGTCAACAGTGG	0.468													26	47					0	0	0	0	A	95791949	G	A	95791949	2	1	457	1	0	0	0	0	0	0	0	1	12106	1132	40	1		1	PLCE1	10	95791949	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	20557232	95791949	39742798	76	88949											
SORBS1	10580	broad.mit.edu	37	chr10	97144014	97144014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttcagaaaatgagtaTctgggagagtacagatctga	13	11	11	6	0	4	5	1	2	3	3	4	6	4	5	0	1	1	2	0	1	4	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:97144014T>A	ENST00000371247.2	-	16	1578	c.1389A>T	c.(1387-1389)agA>agT	p.R463S	SORBS1_ENST00000277982.5_Missense_Mutation_p.R485S|SORBS1_ENST00000353505.5_Missense_Mutation_p.R348S|SORBS1_ENST00000347291.4_Missense_Mutation_p.R331S|SORBS1_ENST00000371227.4_Missense_Mutation_p.R417S|SORBS1_ENST00000607232.1_Missense_Mutation_p.R252S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Missense_Mutation_p.R262S|SORBS1_ENST00000371241.1_Missense_Mutation_p.R253S|SORBS1_ENST00000393949.1_Missense_Mutation_p.R433S|SORBS1_ENST00000371246.2_Missense_Mutation_p.R485S|SORBS1_ENST00000371245.3_Missense_Mutation_p.R348S|SORBS1_ENST00000371249.2_Missense_Mutation_p.R385S|SORBS1_ENST00000361941.3_Missense_Mutation_p.R463S|SORBS1_ENST00000354106.3_Missense_Mutation_p.R433S|SORBS1_ENST00000306402.6_Missense_Mutation_p.R294S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	463	SoHo.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAAATGAGTATCTGGGAGAGT	0.423													16	77					0	0	0	0	A	97144014	T	A	97144014	3	1	457	1	0	0	0	0	1	0	0	0	15015	1432	50	5	2625	5	SORBS1	10	97144014	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	1352065	97144014	38390733	77	88950											
HPS1	3257	broad.mit.edu	37	chr10	100195517	100195517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagggtgctgagctggtcctCcagggcagggagctgcaaaa	9	6	17	9	0	0	1	0	1	0	0	2	3	2	2	2	4	4	5	2	4	2	0			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:100195517C>T	ENST00000325103.6	-	4	363	c.130G>A	c.(130-132)Gag>Aag	p.E44K	HPS1_ENST00000338546.5_Missense_Mutation_p.E44K|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.E44K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	44					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTGGTCCTCCAGGGCAGGG	0.542									Hermansky-Pudlak syndrome				22	89					0	0	0	0	T	100195517	C	T	100195517	3	4	457	1	0	0	0	0	1	0	0	0	7389	864	30	2	2078	2	HPS1	10	100195517	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	3051503	100195517	35339230	78	88951											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118357568	118357568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcatttcaggttttggaaCgaaccaacagatgggtcatc	13	10	10	8	1	2	1	2	0	0	1	3	3	2	2	1	3	4	2	1	3	4	3	rs147786434		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:118357568C>T	ENST00000528052.1	+	8	775	c.704C>T	c.(703-705)aCg>aTg	p.T235M	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235M|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235M			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	235					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GGTTTTGGAACGAACCAACAG	0.463													27	70					0	0	0	0	T	118357568	C	T	118357568	3	4	457	1	0	0	0	0	1	0	0	0	12222	536	19	1	730	1	PNLIPRP1	10	118357568	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	18162051	118357568	17177179	79	88952											
PSTK	118672	broad.mit.edu	37	chr10	124742937	124742937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accctgagaaaaatgcttggGaacacaacagcctcacaatt	16	7	7	11	0	1	1	1	1	0	1	1	3	1	2	2	1	4	1	2	1	5	2	rs79236806		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:124742937G>A	ENST00000405485.1	+	3	724	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000368887.3_Missense_Mutation_p.E220K			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	220							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AAATGCTTGGGAACACAACAG	0.532													9	29					0	0	0	0	A	124742937	G	A	124742937	3	1	457	1	0	0	0	0	1	0	0	0	12799	1175	41	2	668	2	PSTK	10	124742937	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	6385369	124742937	10791810	80	88953											
OR52E2	119678	broad.mit.edu	37	chr11	5080197	5080197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacagcacaaagaatatGcacataagaaagggcaatga	22	4	9	6	0	0	3	0	1	0	2	0	4	0	3	0	1	3	3	0	1	8	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:5080197G>A	ENST00000321522.2	-	1	660	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAAAGAATATGCACATAAGAA	0.398													33	47					0	0	0	0	A	5080197	G	A	5080197	3	1	457	1	0	0	0	0	1	0	0	0	11186	1319	46	4	319	4	OR52E2	11	5080197	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08		5080197	129926319	81	88954											
OR51I2	390064	broad.mit.edu	37	chr11	5475069	5475069	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaggtattctgctggcCatgagttttgaccgctatgt	8	14	11	8	1	2	2	1	2	1	0	2	3	2	2	2	2	1	4	2	2	3	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:5475069C>T	ENST00000341449.2	+	1	432	c.351C>T	c.(349-351)gcC>gcT	p.A117A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTGCTGGCCATGAGTTTTG	0.478													28	80					0	0	0	0	T	5475069	C	T	5475069	2	4	457	1	0	0	0	0	0	0	0	1	11172	581	21	4		4	OR51I2	11	5475069	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	394872	5475069	129531447	82	88955											
NELL1	4745	broad.mit.edu	37	chr11	20959337	20959337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttttattacagcaaaaTgtatctatggaggaaaagtt	15	15	8	3	0	1	0	0	0	1	0	1	2	1	2	0	2	2	4	0	2	9	7			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:20959337T>C	ENST00000298925.5	+	11	1240	c.1087T>C	c.(1087-1089)Tgt>Cgt	p.C363R	NELL1_ENST00000532434.1_Missense_Mutation_p.C335R|NELL1_ENST00000325319.5_Missense_Mutation_p.C278R|NELL1_ENST00000357134.5_Missense_Mutation_p.C335R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	335	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TACAGCAAAATGTATCTATGG	0.418													13	28					0	0	0	0	C	20959337	T	C	20959337	3	2	457	1	0	0	0	0	1	0	0	0	10403	1464	51	5	1041	5	NELL1	11	20959337	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	15484268	20959337	114047179	83	88956											
OR4C6	219432	broad.mit.edu	37	chr11	55432661	55432661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggaaaatcaaaacaatGtgactgaattcattcttctg	17	12	6	6	0	4	2	2	2	2	0	4	3	4	3	0	1	1	0	0	1	7	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:55432661G>T	ENST00000314259.3	+	1	48	c.19G>T	c.(19-21)Gtg>Ttg	p.V7L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	7					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						TCAAAACAATGTGACTGAATT	0.363													18	97					5.3912e-06	5.69927e-06	1	0	T	55432661	G	T	55432661	3	4	457	1	0	0	0	0	1	0	0	0	11123	1377	48	4	21	4	OR4C6	11	55432661	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	34473324	55432661	79573855	84	88957											
TMEM151A	256472	broad.mit.edu	37	chr11	66062192	66062192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaccagctatcactacGtgcggcgcacacgccagatc	10	5	10	16	4	1	1	1	0	0	1	2	1	1	1	3	2	3	2	3	2	2	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:66062192G>A	ENST00000327259.4	+	2	619	c.475G>A	c.(475-477)Gtg>Atg	p.V159M		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	159						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CTATCACTACGTGCGGCGCAC	0.716													5	17					0	0	0	0	A	66062192	G	A	66062192	3	1	457	1	0	0	0	0	1	0	0	0	16164	1145	40	1	481	1	TMEM151A	11	66062192	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	10629531	66062192	68944324	85	88958											
NUMA1	4926	broad.mit.edu	37	chr11	71730624	71730624	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctaggtggggagagcTcttcagggaatgtgctagaa	9	9	18	5	0	2	2	1	0	1	2	2	4	2	3	0	6	2	3	0	6	4	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:71730624T>C	ENST00000393695.3	-	9	831	c.500A>G	c.(499-501)gAg>gGg	p.E167G	NUMA1_ENST00000358965.6_Missense_Mutation_p.E167G|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.E167G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	167					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGGGAGAGCTCTTCAGGGAA	0.483			T	RARA	APL								56	93					0	0	0	0	C	71730624	T	C	71730624	3	2	457	1	0	0	0	0	1	0	0	0	10821	1551	54	5	5923	5	NUMA1	11	71730624	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	5668432	71730624	63275892	86	88959											
TRIM49	57093	broad.mit.edu	37	chr11	89531516	89531516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcattcttaacacaccCaagaagaaagagtcccgcct	15	8	6	12	1	2	3	1	0	1	3	3	3	3	3	3	0	1	0	3	0	5	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:89531516C>A	ENST00000329758.1	-	8	1469	c.1141G>T	c.(1141-1143)Ggg>Tgg	p.G381W	TRIM49_ENST00000532501.2_Missense_Mutation_p.G304W	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	381	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTAACACACCCAAGAAGAAAG	0.438													21	140					0.000132079	0.000136506	1	0	A	89531516	C	A	89531516	3	1	457	1	0	0	0	0	1	0	0	0	16619	594	21	4	221	4	TRIM49	11	89531516	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	17800892	89531516	45475000	87	88960											
KIAA1377	57562	broad.mit.edu	37	chr11	101834137	101834137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcaaagtcaacatatttAcacaagctcagggaaaatta	19	8	6	8	0	2	0	2	0	0	0	2	1	2	1	0	1	4	2	0	1	9	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:101834137A>G	ENST00000263468.8	+	6	2641	c.2371A>G	c.(2371-2373)Aca>Gca	p.T791A	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T592A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	791							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAACATATTTACACAAGCTCA	0.373													32	64					0	0	0	0	G	101834137	A	G	101834137	3	3	457	1	0	0	0	0	1	0	0	0	8278	391	14	5	2393	5	KIAA1377	11	101834137	Missense_Mutation	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	12302621	101834137	33172379	88	88961											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810701	106810701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcatgagagtaccttcagGgagctctttgcataggaaag	12	9	13	7	0	2	1	1	1	1	1	2	5	2	3	1	2	4	4	1	2	3	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:106810701G>A	ENST00000526355.1	-	4	1159	c.691C>T	c.(691-693)Cct>Tct	p.P231S	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P231S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P231S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	231					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTACCTTCAGGGAGCTCTTTG	0.458													37	86					0	0	0	0	A	106810701	G	A	106810701	3	1	457	1	0	0	0	0	1	0	0	0	6943	1232	43	4	1527	4	GUCY1A2	11	106810701	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	4976564	106810701	28195815	89	88962											
B3GAT1	27087	broad.mit.edu	37	chr11	134253736	134253736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgggcgtctccgcgcagCttgtagttgcggggcgtctc	2	10	16	13	7	2	0	0	0	2	0	5	0	2	0	1	3	2	4	1	3	1	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:134253736C>G	ENST00000524765.1	-	3	5003	c.459G>C	c.(457-459)aaG>aaC	p.K153N	B3GAT1_ENST00000392580.1_Missense_Mutation_p.K153N|B3GAT1_ENST00000537389.1_Missense_Mutation_p.K166N|B3GAT1_ENST00000312527.4_Missense_Mutation_p.K153N			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	153					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTCCGCGCAGCTTGTAGTTGC	0.731													5	7					0	0	0	0	G	134253736	C	G	134253736	3	3	457	1	0	0	0	0	1	0	0	0	1257	796	28	4	557	4	B3GAT1	11	134253736	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	27443035	134253736	752780	90	88963											
PEX5	5830	broad.mit.edu	37	chr12	7342957	7342957	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacctcctgtgtccatcaGagagctggcggtcaccatgg	9	8	11	13	1	2	1	2	0	0	1	4	2	4	1	4	3	2	1	4	3	1	0			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:7342957G>A	ENST00000266563.5	+	2	167		c.e2-1		PEX5_ENST00000412720.2_Splice_Site|PEX5_ENST00000420616.2_Splice_Site|PEX5_ENST00000434354.2_Splice_Site|PEX5_ENST00000455147.2_Splice_Site|PEX5_ENST00000266564.3_5'UTR|PEX5_ENST00000545220.1_Intron	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTGTCCATCAGAGAGCTGGCG	0.617													7	116					0	0	0	0	A	7342957	G	A	7342957	5	1	457	1	0	0	0	0	0	0	1	0	11820	956	33	2		2	PEX5	12	7342957	Splice_Site	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08		7342957	126508938	91	88964											
CD163L1	283316	broad.mit.edu	37	chr12	7510047	7510047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcccaacagcgatgtgtCgctagcatcttcacaaccat	12	9	6	14	2	2	0	1	0	1	0	4	1	3	0	2	0	5	2	2	0	4	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:7510047C>T	ENST00000313599.3	-	19	4372	c.4315G>A	c.(4315-4317)Gac>Aac	p.D1439N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D1407N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1449N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1439						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1439N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCGATGTGTCGCTAGCATCT	0.443													3	48					0	0	0	0	T	7510047	C	T	7510047	3	4	457	1	0	0	0	0	1	0	0	0	2997	884	31	1	50	1	CD163L1	12	7510047	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	167090	7510047	126341848	92	88965											
CLEC12B	387837	broad.mit.edu	37	chr12	10167141	10167141	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgcagatatctaatgaCattaactcagattcagagaa	15	13	7	6	0	3	4	2	1	1	3	3	5	3	4	0	0	2	2	0	0	4	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:10167141C>T	ENST00000396502.1	+	3	338	c.210C>T	c.(208-210)gaC>gaT	p.D70D	CLEC12B_ENST00000338896.5_Silent_p.D70D	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	70						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TATCTAATGACATTAACTCAG	0.373													16	27					0	0	0	0	T	10167141	C	T	10167141	2	4	457	1	0	0	0	0	0	0	0	1	3528	477	17	4		4	CLEC12B	12	10167141	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	2657094	10167141	123684754	93	88966											
TAS2R20	259295	broad.mit.edu	37	chr12	11149817	11149817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatgtggatcttggtgcTgggatcttgagatcctttgc	5	18	12	6	0	2	1	0	1	2	1	3	4	3	3	1	3	2	1	1	3	1	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:11149817T>C	ENST00000538986.1	-	1	657	c.658A>G	c.(658-660)Agc>Ggc	p.S220G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	220					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATCTTGGTGCTGGGATCTTGA	0.398													50	180					0	0	0	0	C	11149817	T	C	11149817	3	2	457	1	0	0	0	0	1	0	0	0	15662	1580	55	5	275	5	TAS2R20	12	11149817	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	982676	11149817	122702078	94	88967											
PDE3A	5139	broad.mit.edu	37	chr12	20792842	20792842	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaaattccaattagggaAtttatgaattattttcatgc	14	18	5	4	0	1	1	1	1	0	0	2	2	2	2	1	1	1	0	1	1	8	9			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:20792842A>G	ENST00000359062.3	+	10	2242	c.2202A>G	c.(2200-2202)gaA>gaG	p.E734E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	734	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAATTAGGGAATTTATGAATT	0.308													15	43					0	0	0	0	G	20792842	A	G	20792842	2	3	457	1	0	0	0	0	0	0	0	1	11708	98	4	5		5	PDE3A	12	20792842	Silent	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	9643025	20792842	113059053	95	88968											
LRMP	4033	broad.mit.edu	37	chr12	25243014	25243014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctcagattatctttGggatttaagtgtgactggtt	9	18	10	4	0	2	2	1	1	2	1	3	4	2	3	0	2	0	1	0	2	3	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:25243014G>T	ENST00000354454.3	+	13	1318	c.489G>T	c.(487-489)ttG>ttT	p.L163F	LRMP_ENST00000548766.1_Missense_Mutation_p.L163F|LRMP_ENST00000547044.1_Missense_Mutation_p.L163F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	219					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GATTATCTTTGGGATTTAAGT	0.398													26	89					9.39395e-14	1.04065e-13	1	0	T	25243014	G	T	25243014	3	4	457	1	0	0	0	0	1	0	0	0	9014	1339	47	4	523	4	LRMP	12	25243014	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	4450172	25243014	108608881	96	88969											
YARS2	51067	broad.mit.edu	37	chr12	32908353	32908353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctgctggtgattagcCgccagggcctcaagccctag	10	7	12	12	1	1	1	1	1	0	0	1	1	1	1	4	2	4	2	4	2	5	2	rs117518550	by1000genomes	TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:32908353C>T	ENST00000324868.8	-	1	483	c.456G>A	c.(454-456)gcG>gcA	p.A152A		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	152					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGTGATTAGCCGCCAGGGCCT	0.652											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	54					0	0	0	0	T	32908353	C	T	32908353	2	4	457	1	0	0	0	0	0	0	0	1	17564	639	23	1		1	YARS2	12	32908353	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	7665339	32908353	100943542	97	88970											
PDZRN4	29951	broad.mit.edu	37	chr12	41966391	41966391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttgaacttcagtacaatGagagcctcgtatctggtgaa	11	12	11	7	1	2	3	1	3	1	1	3	4	2	3	1	1	3	3	1	1	5	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:41966391G>A	ENST00000298919.7	+	10	1418	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E346K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E604K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	604							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAGTACAATGAGAGCCTCGT	0.493													19	52					0	0	0	0	A	41966391	G	A	41966391	3	1	457	1	0	0	0	0	1	0	0	0	11781	1291	45	2	1921	2	PDZRN4	12	41966391	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	9058038	41966391	91885504	98	88971											
TMEM117	84216	broad.mit.edu	37	chr12	44693489	44693489	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagcattccttgcttctttTatcttggtctttgaccttct	5	20	6	10	0	4	2	0	1	4	1	5	2	5	2	2	1	2	2	2	1	1	8			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:44693489T>G	ENST00000266534.3	+	6	862	c.735T>G	c.(733-735)ttT>ttG	p.F245L	TMEM117_ENST00000551577.1_Missense_Mutation_p.F245L|TMEM117_ENST00000536799.1_Missense_Mutation_p.F141L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	245						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTGCTTCTTTTATCTTGGTCT	0.448													36	121					0	0	0	0	G	44693489	T	G	44693489	3	3	457	1	0	0	0	0	1	0	0	0	16125	1751	61	5	753	5	TMEM117	12	44693489	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	2727098	44693489	89158406	99	88972											
LARP4	113251	broad.mit.edu	37	chr12	50869524	50869524	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttccgaggcaatataatCcccaggggagcagcaggaaa	13	5	13	10	1	0	0	0	0	0	0	2	3	2	2	3	5	2	4	3	5	4	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:50869524C>A	ENST00000398473.2	+	16	2164	c.2052C>A	c.(2050-2052)atC>atA	p.I684I	LARP4_ENST00000518444.1_Silent_p.I683I|LARP4_ENST00000293618.8_Silent_p.I613I|LARP4_ENST00000347328.5_Silent_p.I613I|LARP4_ENST00000429001.3_Silent_p.I690I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	684							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GCAATATAATCCCCAGGGGAG	0.488													61	92					2.14255e-21	2.43173e-21	1	0	A	50869524	C	A	50869524	2	1	457	1	0	0	0	0	0	0	0	1	8683	845	30	2		2	LARP4	12	50869524	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	6176035	50869524	82982371	100	88973											
SPIC	121599	broad.mit.edu	37	chr12	101880335	101880335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcactcagaaattacggaaGaagtggggaaattaccaaaa	18	6	11	6	1	1	2	1	0	0	2	1	4	1	4	1	4	2	1	1	4	8	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:101880335G>C	ENST00000551346.1	+	6	692	c.533G>C	c.(532-534)aGa>aCa	p.R178T	SPIC_ENST00000299272.5_Missense_Mutation_p.R178T			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AATTACGGAAGAAGTGGGGAA	0.453													18	78					0	0	0	0	C	101880335	G	C	101880335	3	2	457	1	0	0	0	0	1	0	0	0	15141	942	33	2	545	2	SPIC	12	101880335	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	51010811	101880335	31971560	101	88974											
BRCA2	675	broad.mit.edu	37	chr13	32912650	32912650	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaagaagatttgtcagaTttaacttttttggaagttgc	13	17	8	3	0	1	3	1	0	0	3	1	4	1	4	0	1	2	1	0	1	5	8			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr13:32912650T>C	ENST00000544455.1	+	11	4385	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	BRCA2_ENST00000380152.3_Silent_p.D1386D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1386					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTTGTCAGATTTAACTTTTT	0.338			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	27					0	0	0	0	C	32912650	T	C	32912650	2	2	457	1	0	0	0	0	0	0	0	1	1507	1490	52	5		5	BRCA2	13	32912650	Silent	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		32912650	82257228	102	88975											
CLDN10	9071	broad.mit.edu	37	chr13	96230191	96230191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacatctgtcatgtcttctCggacaaagtatcatggtgga	10	12	9	10	1	5	0	2	0	3	0	6	2	5	2	1	3	0	1	1	3	2	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr13:96230191C>T	ENST00000376873.3	+	5	834	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CLDN10_ENST00000299339.2_Missense_Mutation_p.R204W	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	204					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CATGTCTTCTCGGACAAAGTA	0.388													7	34					0	0	0	0	T	96230191	C	T	96230191	3	4	457	1	0	0	0	0	1	0	0	0	3502	875	31	1	846	1	CLDN10	13	96230191	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	63317541	96230191	18939687	103	88976											
PAX9	5083	broad.mit.edu	37	chr14	37132577	37132577	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctacaaccacatctaCtcgtaccccagccctatcac	10	8	3	20	1	2	0	1	0	1	0	3	0	2	0	5	0	6	1	5	0	5	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:37132577C>A	ENST00000361487.6	+	2	705	c.480C>A	c.(478-480)taC>taA	p.Y160*	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.Y160*			P55771	PAX9_HUMAN	paired box 9	160					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ACCACATCTACTCGTACCCCA	0.672													32	62					2.47511e-08	2.66218e-08	1	0	A	37132577	C	A	37132577	4	1	457	1	0	0	0	0	0	1	0	0	11557	576	20	4	486	4	PAX9	14	37132577	Nonsense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08		37132577	70216963	104	88977											
SLC24A4	123041	broad.mit.edu	37	chr14	92920379	92920379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtttggacccaggacccGactacggatggccagcagga	11	6	13	11	2	0	0	0	0	0	0	0	5	0	4	3	5	2	2	3	5	2	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:92920379G>A	ENST00000532405.1	+	11	1242	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	SLC24A4_ENST00000351924.5_Missense_Mutation_p.R303Q|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R275Q|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R320Q|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R322Q			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	339						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCCAGGACCCGACTACGGATG	0.512													16	44					0	0	0	0	A	92920379	G	A	92920379	3	1	457	1	0	0	0	0	1	0	0	0	14556	1058	37	1	1007	1	SLC24A4	14	92920379	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	55787802	92920379	14429161	105	88978											
CDC42BPB	9578	broad.mit.edu	37	chr14	103449974	103449974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatagagcatctcatacatGcagacacccagagaccacca	15	5	6	15	0	1	3	1	0	1	3	2	4	1	3	4	0	3	2	4	0	2	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:103449974G>C	ENST00000361246.2	-	7	1098	c.810C>G	c.(808-810)tgC>tgG	p.C270W		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	270	Protein kinase.				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			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)		TCTCATACATGCAGACACCCA	0.522													36	58					0	0	0	0	C	103449974	G	C	103449974	3	2	457	1	0	0	0	0	1	0	0	0	3102	1311	46	4	4449	4	CDC42BPB	14	103449974	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	10529595	103449974	3899566	106	88979											
ASPG	374569	broad.mit.edu	37	chr14	104552178	104552178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaccattggcatgcggaGtgagctcggcggtgagtccg	6	7	17	11	5	0	2	0	2	0	0	2	3	1	3	2	5	2	3	2	5	0	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:104552178G>A	ENST00000551177.1	+	1	163	c.71G>A	c.(70-72)aGt>aAt	p.S24N	ASPG_ENST00000455920.2_Missense_Mutation_p.S24N|ASPG_ENST00000546892.2_Missense_Mutation_p.S24N	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	24					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCATGCGGAGTGAGCTCGGC	0.751													6	18					0	0	0	0	A	104552178	G	A	104552178	3	1	457	1	0	0	0	0	1	0	0	0	1056	1029	36	4	73	4	ASPG	14	104552178	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	1102204	104552178	2797362	107	88980											
OCA2	4948	broad.mit.edu	37	chr15	28260020	28260020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgatgagccatcaaaaGagggacagcctgggtctgct	11	8	13	9	0	2	3	1	2	1	1	2	4	2	4	2	2	4	2	2	2	3	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:28260020G>T	ENST00000354638.3	-	9	1101	c.946C>A	c.(946-948)Ctt>Att	p.L316I	OCA2_ENST00000353809.5_Missense_Mutation_p.L316I|OCA2_ENST00000382996.2_Missense_Mutation_p.L316I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	316					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCCATCAAAAGAGGGACAGCC	0.562									Oculocutaneous Albinism				7	44					0.00198382	0.00202766	1	0	T	28260020	G	T	28260020	3	4	457	1	0	0	0	0	1	0	0	0	10886	942	33	2	1634	2	OCA2	15	28260020	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08		28260020	74271372	108	88981											
STARD5	80765	broad.mit.edu	37	chr15	81605705	81605705	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtaaccgctgaggtcGgtatggaagaatgtgaccag	11	7	17	6	2	0	3	0	2	0	1	1	5	0	5	2	5	1	3	2	5	4	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:81605705G>C	ENST00000302824.6	-	6	559	c.534C>G	c.(532-534)acC>acG	p.T178T		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	178	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	p.T178T(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGCTGAGGTCGGTATGGAAGA	0.557													22	96					0	0	0	0	C	81605705	G	C	81605705	2	2	457	1	0	0	0	0	0	0	0	1	15350	1103	39	3		3	STARD5	15	81605705	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	53345685	81605705	20925687	109	88982											
AGBL1	123624	broad.mit.edu	37	chr15	86807624	86807624	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgtgggcaagaaagaGaatatgctgtccagacttcc	11	9	11	10	0	0	3	0	0	0	3	3	4	3	3	3	1	1	3	3	1	4	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:86807624G>T	ENST00000441037.2	+	10	1179	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	AGBL1_ENST00000389298.3_Nonsense_Mutation_p.E93*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.E362*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	362					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAAGAAAGAGAATATGCTGT	0.493													12	23					1.08611e-07	1.16144e-07	1	0	T	86807624	G	T	86807624	4	4	457	1	0	0	0	0	0	1	0	0	375	943	33	2	1118	2	AGBL1	15	86807624	Nonsense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	5201919	86807624	15723768	110	88983											
LRRK1	79705	broad.mit.edu	37	chr15	101562619	101562619	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtcttacctgcgtgcTcagctgcggaaagcggaaaa	10	9	12	10	3	2	0	1	0	1	0	2	2	2	2	1	2	7	3	1	2	4	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:101562619T>C	ENST00000284395.5	+	16	2275	c.1875T>C	c.(1873-1875)gcT>gcC	p.A625A	LRRK1_ENST00000388948.3_Silent_p.A628A			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	628					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTGCGTGCTCAGCTGCGGA	0.547													27	88					0	0	0	0	C	101562619	T	C	101562619	2	2	457	1	0	0	0	0	0	0	0	1	9096	1538	54	5		5	LRRK1	15	101562619	Silent	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	14754995	101562619	968773	111	88984											
MMP25	64386	broad.mit.edu	37	chr16	3100318	3100318	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggtcctcatgagctaTgccctgatggcctggggcat	5	10	15	11	1	1	2	1	2	0	0	2	2	2	2	3	4	3	2	3	4	1	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:3100318T>C	ENST00000336577.4	+	4	669	c.432T>C	c.(430-432)taT>taC	p.Y144Y	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	144					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TCATGAGCTATGCCCTGATGG	0.642													18	53					0	0	0	0	C	3100318	T	C	3100318	2	2	457	1	0	0	0	0	0	0	0	1	9732	1471	51	5		5	MMP25	16	3100318	Silent	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		3100318	87254435	112	88985											
GRIN2A	2903	broad.mit.edu	37	chr16	9858383	9858383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgccggggtctagagttCgctttggattctgtgctcac	5	13	13	10	2	3	1	1	0	2	1	4	2	3	2	1	3	3	4	1	3	1	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:9858383C>T	ENST00000396573.2	-	14	3327	c.3018G>A	c.(3016-3018)gcG>gcA	p.A1006A	GRIN2A_ENST00000535259.1_Silent_p.A849A|GRIN2A_ENST00000562109.1_Silent_p.A1006A|GRIN2A_ENST00000404927.2_Silent_p.A1006A|GRIN2A_ENST00000330684.3_Silent_p.A1006A|GRIN2A_ENST00000396575.2_Silent_p.A1006A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1006					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.A1006A(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)	GTCTAGAGTTCGCTTTGGATT	0.507													20	88					0	0	0	0	T	9858383	C	T	9858383	2	4	457	1	0	0	0	0	0	0	0	1	6829	871	31	1		1	GRIN2A	16	9858383	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	6758065	9858383	80496370	113	88986											
CD19	930	broad.mit.edu	37	chr16	28948832	28948832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctgaggatgaagacTccttctccaacggtaacttg	9	11	11	10	1	1	3	0	2	1	1	4	4	3	4	3	3	2	1	3	3	3	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:28948832T>G	ENST00000538922.1	+	10	1422	c.1360T>G	c.(1360-1362)Tcc>Gcc	p.S454A	CD19_ENST00000567541.1_Missense_Mutation_p.S454A|CD19_ENST00000324662.3_Missense_Mutation_p.S454A	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	454					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGATGAAGACTCCTTCTCCAA	0.582													45	40					0	0	0	0	G	28948832	T	G	28948832	3	3	457	1	0	0	0	0	1	0	0	0	3002	1551	54	5	1398	5	CD19	16	28948832	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	19090449	28948832	61405921	114	88987											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53708963	53708963	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaattttccttccattgctGaaagagcattgcttttctct	9	18	5	9	0	1	2	0	1	1	1	4	2	3	2	2	0	3	3	2	0	3	8			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:53708963G>T	ENST00000262135.4	-	7	941	c.848C>A	c.(847-849)tCa>tAa	p.S283*	RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.S283*	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	283					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCCATTGCTGAAAGAGCATT	0.323													13	17					0.00010058	0.000104535	1	0	T	53708963	G	T	53708963	4	4	457	1	0	0	0	0	0	1	0	0	13635	1294	45	2	3183	2	RPGRIP1L	16	53708963	Nonsense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	24760131	53708963	36645790	115	88988											
CNGB1	1258	broad.mit.edu	37	chr16	57951312	57951312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggggaaggcccagcgcaCgggaatcagccaacagttcc	11	4	14	12	2	1	0	1	0	0	0	2	2	2	2	3	4	3	3	3	4	4	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:57951312C>T	ENST00000564448.1	-	21	2068	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	CNGB1_ENST00000251102.8_Missense_Mutation_p.V676M			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	676					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCCAGCGCACGGGAATCAGC	0.557													18	144					0	0	0	0	T	57951312	C	T	57951312	3	4	457	1	0	0	0	0	1	0	0	0	3630	536	19	1	1781	1	CNGB1	16	57951312	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	4242349	57951312	32403441	116	88989											
GCSH	2653	broad.mit.edu	37	chr16	81124263	81124263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgttgttacccattcGtgtttctctgtgaatttacg	5	21	7	8	2	2	1	0	1	2	0	4	1	2	1	1	0	2	3	1	0	3	8			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:81124263G>C	ENST00000315467.3	-	2	295	c.171C>G	c.(169-171)caC>caG	p.H57Q	GCSH_ENST00000566566.1_Missense_Mutation_p.H57Q	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	57						glycine cleavage complex|mitochondrion	aminomethyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	TTACCCATTCGTGTTTCTCTG	0.368													7	57					0	0	0	0	C	81124263	G	C	81124263	3	2	457	1	0	0	0	0	1	0	0	0	6355	1136	40	3	366	3	GCSH	16	81124263	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	23172951	81124263	9230490	117	88990											
ANKRD11	29123	broad.mit.edu	37	chr16	89357518	89357518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggattccagacagcccCatgccaaacagcagcccggc	10	4	10	17	2	0	1	0	0	0	1	2	2	1	2	5	2	5	2	5	2	1	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:89357518C>A	ENST00000301030.4	-	5	760	c.300G>T	c.(298-300)atG>atT	p.M100I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.M100I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	100						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGACAGCCCCATGCCAAACA	0.652													30	89					1.13719e-10	1.23753e-10	1	0	A	89357518	C	A	89357518	3	1	457	1	0	0	0	0	1	0	0	0	639	594	21	4	7727	4	ANKRD11	16	89357518	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	8233255	89357518	997235	118	88991											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			31	21					0	0	0	0	T	7577538	C	T	7577538	3	4	457	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08		7577538	73617672	119	88992											
EFCAB5	374786	broad.mit.edu	37	chr17	28409928	28409928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgttgctaatgtctttaGcactgcctatcactacgtcc	7	14	9	11	1	2	0	1	0	1	0	3	0	3	0	2	1	4	3	2	1	4	6			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:28409928G>C	ENST00000394835.3	+	18	3638	c.3446G>C	c.(3445-3447)aGc>aCc	p.S1149T	EFCAB5_ENST00000320856.5_Missense_Mutation_p.S1025T|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1149							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AATGTCTTTAGCACTGCCTAT	0.388													18	62					0	0	0	0	C	28409928	G	C	28409928	3	2	457	1	0	0	0	0	1	0	0	0	4974	971	34	4	3683	4	EFCAB5	17	28409928	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	20832390	28409928	52785282	120	88993											
HDAC5	10014	broad.mit.edu	37	chr17	42168666	42168666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgctctgctgccgggcCtgctccagcaacagcacatg	7	7	13	14	1	1	0	0	0	1	0	2	0	2	0	3	2	7	5	3	2	1	0			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:42168666C>T	ENST00000225983.6	-	11	1685	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	HDAC5_ENST00000586802.1_Silent_p.Q453Q|HDAC5_ENST00000393622.2_Silent_p.Q453Q|HDAC5_ENST00000336057.5_Silent_p.Q453Q			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	453					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCTGCCGGGCCTGCTCCAGCA	0.642													8	24					0	0	0	0	T	42168666	C	T	42168666	2	4	457	1	0	0	0	0	0	0	0	1	7060	680	24	4		4	HDAC5	17	42168666	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	13758738	42168666	39026544	121	88994											
MAP3K14	9020	broad.mit.edu	37	chr17	43367874	43367874	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactcagcctgggcgatgaTagagatggcagctggccctg	9	7	14	11	1	1	2	1	1	0	1	1	4	1	2	2	3	2	2	2	3	1	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:43367874T>C	ENST00000344686.2	-	0	346							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGCGATGATAGAGATGGCA	0.622													18	13					0	0	0	0	C	43367874	T	C	43367874	1	2	457	0	1	0	0	0	0	0	0	0	9317	1406	49	5		5	MAP3K14	17	43367874	RNA	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	1199208	43367874	37827336	122	88995											
NACA2	342538	broad.mit.edu	37	chr17	59668030	59668030	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctacacctgtttcatcgAcctcttcctcttcactctcc	5	16	2	18	1	6	0	2	0	4	0	9	1	7	0	4	0	1	1	4	0	1	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:59668030A>C	ENST00000521764.1	-	1	533	c.512T>G	c.(511-513)gTc>gGc	p.V171G		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	171					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGTTTCATCGACCTCTTCCTC	0.448													90	99					0	0	0	0	C	59668030	A	C	59668030	3	2	457	1	0	0	0	0	1	0	0	0	10204	275	10	5	139	5	NACA2	17	59668030	Missense_Mutation	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	16300156	59668030	21527180	123	88996											
TTC39C	125488	broad.mit.edu	37	chr18	21649158	21649158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccccctctatggttgatcGgcttcagaggcagataatca	9	10	10	12	2	3	3	2	1	1	2	4	3	3	3	2	3	0	3	2	3	2	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:21649158G>A	ENST00000317571.3	+	4	619	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	TTC39C_ENST00000578150.1_Intron|TTC39C_ENST00000304621.6_Missense_Mutation_p.R67Q	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	128							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ATGGTTGATCGGCTTCAGAGG	0.428													12	68					0	0	0	0	A	21649158	G	A	21649158	3	1	457	1	0	0	0	0	1	0	0	0	16805	1116	39	1	397	1	TTC39C	18	21649158	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08		21649158	56428090	124	88997											
ALPK2	115701	broad.mit.edu	37	chr18	56203186	56203186	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagccctggtgtactctatCacacttatctcatcaatggg	9	12	7	13	0	4	0	3	0	2	0	5	0	4	0	2	2	2	1	2	2	4	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:56203186C>G	ENST00000361673.3	-	5	4446	c.4233G>C	c.(4231-4233)gtG>gtC	p.V1411V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1411							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTACTCTATCACACTTATCT	0.473													18	67					0	0	0	0	G	56203186	C	G	56203186	2	3	457	1	0	0	0	0	0	0	0	1	545	813	29	2		2	ALPK2	18	56203186	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	34554028	56203186	21874062	125	88998											
DSEL	92126	broad.mit.edu	37	chr18	65179007	65179007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgcaaaatattgggccaGtttacccctattgggttcat	10	14	8	9	0	1	0	1	0	0	0	1	0	1	0	3	2	2	3	3	2	5	8			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:65179007G>C	ENST00000310045.7	-	2	4342	c.2869C>G	c.(2869-2871)Ctg>Gtg	p.L957V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	947						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATTGGGCCAGTTTACCCCTA	0.393													20	46					0	0	0	0	C	65179007	G	C	65179007	3	2	457	1	0	0	0	0	1	0	0	0	4811	1020	36	4	803	4	DSEL	18	65179007	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	8975821	65179007	12898241	126	88999											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408471	2408471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaccccctgtacaacgcGgacacggccgactttgacgt	10	6	10	15	5	0	1	0	1	0	0	0	3	0	2	3	2	3	2	3	2	3	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:2408471G>A	ENST00000332578.3	+	7	858	c.858G>A	c.(856-858)gcG>gcA	p.A286A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	286	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGTACAACGCGGACACGGCCG	0.672													34	115					0	0	0	0	A	2408471	G	A	2408471	2	1	457	1	0	0	0	0	0	0	0	1	16347	1103	39	1		1	TMPRSS9	19	2408471	Silent	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08		2408471	56720512	127	89000											
ZFR2	23217	broad.mit.edu	37	chr19	3816705	3816705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagctgctgggcgatcctCcgcagcaggctgtgcgtggg	4	7	18	12	3	0	0	0	0	0	0	2	1	2	0	2	4	4	6	2	4	0	0			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:3816705C>T	ENST00000262961.4	-	13	2080	c.2070G>A	c.(2068-2070)cgG>cgA	p.R690R		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	690						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGCGATCCTCCGCAGCAGGC	0.687													17	15					0	0	0	0	T	3816705	C	T	3816705	2	4	457	1	0	0	0	0	0	0	0	1	17755	842	30	2		2	ZFR2	19	3816705	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	1408234	3816705	55312278	128	89001											
C3	718	broad.mit.edu	37	chr19	6713237	6713237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagacacgtacaaagaCttccccaccaggtcttctgc	10	8	9	14	1	2	2	0	0	2	2	3	2	3	2	3	2	2	2	3	2	2	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:6713237C>G	ENST00000245907.6	-	9	1058	c.966G>C	c.(964-966)aaG>aaC	p.K322N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	322					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGTACAAAGACTTCCCCACCA	0.617													19	35					0	0	0	0	G	6713237	C	G	6713237	3	3	457	1	0	0	0	0	1	0	0	0	2224	564	20	4	4157	4	C3	19	6713237	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	2896532	6713237	52415746	129	89002											
RAB3D	9545	broad.mit.edu	37	chr19	11446167	11446167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcagcaggcacaacaCgttcgtcctccaggtcacac	10	7	7	17	2	2	0	2	0	0	0	6	0	5	0	3	2	2	3	3	2	1	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:11446167C>T	ENST00000222120.3	-	4	688	c.428G>A	c.(427-429)cGt>cAt	p.R143H	RAB3D_ENST00000589655.1_Missense_Mutation_p.R143H	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	143					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGGCACAACACGTTCGTCCTC	0.617													10	47					0	0	0	0	T	11446167	C	T	11446167	3	4	457	1	0	0	0	0	1	0	0	0	13016	536	19	1	239	1	RAB3D	19	11446167	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	4732930	11446167	47682816	130	89003											
ELAVL3	1995	broad.mit.edu	37	chr19	11577635	11577635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagactccatggcccccAgtatctgctggagataacag	10	8	10	13	0	1	2	0	1	1	2	2	4	2	2	4	2	2	2	4	2	2	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:11577635A>G	ENST00000359227.3	-	2	441	c.17T>C	c.(16-18)cTg>cCg	p.L6P	ELAVL3_ENST00000438662.2_Missense_Mutation_p.L6P|CTC-398G3.6_ENST00000585656.1_Missense_Mutation_p.L160P	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	6					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CATGGCCCCCAGTATCTGCTG	0.647													3	20					0	0	0	0	G	11577635	A	G	11577635	3	3	457	1	0	0	0	0	1	0	0	0	5089	188	7	5	1110	5	ELAVL3	19	11577635	Missense_Mutation	SNP	A	TCGA-P3-A5Q6-01A-11D-A28R-08	131468	11577635	47551348	131	89004											
RYR1	6261	broad.mit.edu	37	chr19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacaaccctcagccccccGaccttagtgctgttaccctg	7	9	7	18	1	1	0	1	0	0	0	1	1	1	0	6	0	5	3	6	0	4	3	rs138647599		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:38996982G>A	ENST00000355481.4	+	55	8712	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000359596.3_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2861	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCAGCCCCCCGACCTTAGTGC	0.607													32	56					0	0	0	0	A	38996982	G	A	38996982	3	1	457	1	0	0	0	0	1	0	0	0	13853	1058	37	1	8799	1	RYR1	19	38996982	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	27419347	38996982	20132001	132	89005											
CNOT3	4849	broad.mit.edu	37	chr19	54652230	54652230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcagtagtaacagCagtgccggtggaggggctgg	10	5	18	8	1	0	0	0	0	0	0	0	1	0	1	1	5	6	7	1	5	2	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:54652230C>T	ENST00000406403.1	+	10	2845	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	CNOT3_ENST00000358389.3_Silent_p.S233S|CNOT3_ENST00000221232.5_Silent_p.S414S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	414	Gly/Ser-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					gtagtaacagcagtgccggtg	0.741													7	14					0	0	0	0	T	54652230	C	T	54652230	2	4	457	1	0	0	0	0	0	0	0	1	3650	709	25	4		4	CNOT3	19	54652230	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	15655248	54652230	4476753	133	89006											
FOXA2	3170	broad.mit.edu	37	chr20	22563311	22563311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatccactggtagatcTcgctcagcgtcagcatcttg	8	11	9	13	2	4	2	2	1	2	1	6	2	5	2	2	1	2	3	2	1	1	2			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr20:22563311T>C	ENST00000419308.2	-	2	753	c.551A>G	c.(550-552)gAg>gGg	p.E184G	FOXA2_ENST00000319993.4_Missense_Mutation_p.E190G|FOXA2_ENST00000377115.4_Missense_Mutation_p.E184G	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	184					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGGTAGATCTCGCTCAGCGT	0.582													31	104					0	0	0	0	C	22563311	T	C	22563311	3	2	457	1	0	0	0	0	1	0	0	0	6035	1551	54	5	826	5	FOXA2	20	22563311	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		22563311	40462209	134	89007											
TSHZ2	128553	broad.mit.edu	37	chr20	51873088	51873088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacagtttgtaacagacGtggatgaagaatagctctgc	13	11	10	7	1	2	3	1	1	1	2	2	4	2	4	0	1	3	3	0	1	4	4			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr20:51873088G>A	ENST00000371497.5	+	2	3978	c.3091G>A	c.(3091-3093)Gtg>Atg	p.V1031M	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V1028M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V1028M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1031					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTAACAGACGTGGATGAAGA	0.493													22	88					0	0	0	0	A	51873088	G	A	51873088	3	1	457	1	0	0	0	0	1	0	0	0	16719	1145	40	1	3097	1	TSHZ2	20	51873088	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	29309777	51873088	11152432	135	89008											
B3GALT5	10317	broad.mit.edu	37	chr21	41033131	41033131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacccaccattctgctcCggcaccggctacgtgttttc	6	11	9	15	3	1	0	0	0	1	0	3	0	2	0	4	3	3	5	4	3	2	5			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr21:41033131C>T	ENST00000380620.3	+	5	1237	c.645C>T	c.(643-645)tcC>tcT	p.S215S	B3GALT5_ENST00000380618.1_Silent_p.S215S|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Silent_p.S215S|B3GALT5_ENST00000343118.4_Silent_p.S215S			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	215					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CATTCTGCTCCGGCACCGGCT	0.507													45	42					0	0	0	0	T	41033131	C	T	41033131	2	4	457	1	0	0	0	0	0	0	0	1	1254	639	23	1		1	B3GALT5	21	41033131	Silent	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08		41033131	7096764	136	89009											
CCT8L2	150160	broad.mit.edu	37	chr22	17071915	17071915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgagctgtagcaccaccTcagccactgctcgaaatcct	10	8	7	16	2	2	0	2	0	0	0	4	2	3	0	4	0	4	4	4	0	2	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:17071915T>C	ENST00000359963.3	-	1	1785	c.1526A>G	c.(1525-1527)gAg>gGg	p.E509G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	509					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAGCACCACCTCAGCCACTGC	0.488													25	111					0	0	0	0	C	17071915	T	C	17071915	3	2	457	1	0	0	0	0	1	0	0	0	2990	1551	54	5	151	5	CCT8L2	22	17071915	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		17071915	34232651	137	89010											
SCARF2	91179	broad.mit.edu	37	chr22	20780088	20780088	+	Frame_Shift_Del	DEL	C	C	-																															gctgtcgcctcctcgggcagCcccggggggcgcggcgttgg																										TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:20780088delC	ENST00000405555.3	-	11	2245	c.2175delG	c.(2173-2175)ggfs	p.G725fs	SCARF2_ENST00000266214.5_Frame_Shift_Del_p.G730fs	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	725	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTCGGGCAGCCCCGGGGGGC	0.781													3	3	---	---	---	---					-	20780088	C	-	20780088	7	5	457	1	0	1	0	1	0	0	0	0	13970	726	26	0	426	0	SCARF2	22	20780088	Frame_Shift_Del	DEL	C	TCGA-P3-A5Q6-01A-11D-A28R-08	3708173	20780088	30524478	138	89011											
ZNF280B	140883	broad.mit.edu	37	chr22	22843668	22843668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatctacttgtttggttTcttgtatgttcttctgtggt	3	22	9	7	1	5	0	1	0	4	0	5	0	5	0	0	2	1	4	0	2	2	8			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:22843668T>C	ENST00000360412.2	-	4	831	c.56A>G	c.(55-57)gAa>gGa	p.E19G	ZNF280B_ENST00000406426.1_Missense_Mutation_p.E19G	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGTTTGGTTTCTTGTATGTT	0.398													17	51					0	0	0	0	C	22843668	T	C	22843668	3	2	457	1	0	0	0	0	1	0	0	0	17910	1783	62	5	1579	5	ZNF280B	22	22843668	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	2063580	22843668	28460898	139	89012											
TBC1D10A	83874	broad.mit.edu	37	chr22	30722863	30722863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccattctctccgttgctcTtcgccatcccagccgcgccc	3	10	7	21	4	2	0	0	0	2	0	6	0	4	0	6	0	2	2	6	0	0	3			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:30722863T>C	ENST00000215790.7	-	1	172	c.8A>G	c.(7-9)aAg>aGg	p.K3R	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.K3R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	3						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCCGTTGCTCTTCGCCATCCC	0.781													3	13					0	0	0	0	C	30722863	T	C	30722863	3	2	457	1	0	0	0	0	1	0	0	0	15689	1609	56	5	1554	5	TBC1D10A	22	30722863	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08	7879195	30722863	20581703	140	89013											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859698	31859698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccttgaagtccctctctCggtctctgtctctcaagtcc	4	15	7	15	1	4	1	1	1	3	0	11	1	7	1	3	1	0	0	3	1	2	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:31859698C>T	ENST00000397525.1	-	5	777	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R185Q|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R185Q	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	185	Arg-rich.					nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTCCCTCTCTCGGTCTCTGTC	0.478													15	64					0	0	0	0	T	31859698	C	T	31859698	3	4	457	1	0	0	0	0	1	0	0	0	5073	884	31	1	2466	1	EIF4ENIF1	22	31859698	Missense_Mutation	SNP	C	TCGA-P3-A5Q6-01A-11D-A28R-08	1136835	31859698	19444868	141	89014											
CARD10	29775	broad.mit.edu	37	chr22	37887204	37887204	+	Frame_Shift_Del	DEL	T	T	-																															tatcagatgagcctcaggccTcactgctgctggggcagcct																										TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:37887204delT	ENST00000403299.1	-	21	3308	c.3092delA	c.(3091-3093)ggfs	p.E1031fs	CARD10_ENST00000251973.5_Frame_Shift_Del_p.E1031fs|CARD10_ENST00000406271.3_Frame_Shift_Del_p.E745fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	1031					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCTCAGGCCTCACTGCTGCT	0.667													2	4	---	---	---	---					-	37887204	T	-	37887204	7	5	457	1	0	1	0	1	0	0	0	0	2669	1551	54	0	10	0	CARD10	22	37887204	Frame_Shift_Del	DEL	T	TCGA-P3-A5Q6-01A-11D-A28R-08	6027506	37887204	13417362	142	89015											
ZC3H7B	23264	broad.mit.edu	37	chr22	41751979	41751979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatccatgcacagaacGgccgcaagtgccaatatgtg	11	8	10	12	2	1	1	0	0	1	1	2	1	2	1	3	1	4	3	3	1	4	1			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:41751979G>A	ENST00000352645.4	+	20	2553	c.2296G>A	c.(2296-2298)Ggc>Agc	p.G766S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G766S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	782					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCACAGAACGGCCGCAAGTG	0.617													19	14					0	0	0	0	A	41751979	G	A	41751979	3	1	457	1	0	0	0	0	1	0	0	0	17668	1116	39	1	2370	1	ZC3H7B	22	41751979	Missense_Mutation	SNP	G	TCGA-P3-A5Q6-01A-11D-A28R-08	3864775	41751979	9552587	143	89016											
OFD1	8481	broad.mit.edu	37	chrX	13776517	13776517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagcttctgtaaagagttTaactactcaggttgccgatt	12	13	8	8	1	2	1	1	0	1	1	2	2	2	1	1	1	4	4	1	1	5	7			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chrX:13776517T>C	ENST00000380567.1	+	16	2056	c.1184T>C	c.(1183-1185)tTa>tCa	p.L395S	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.L495S|OFD1_ENST00000340096.6_Missense_Mutation_p.L535S			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	535					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTAAAGAGTTTAACTACTCAG	0.353													12	6					0	0	0	0	C	13776517	T	C	13776517	3	2	457	1	0	0	0	0	1	0	0	0	10909	1764	61	5	1662	5	OFD1	23	13776517	Missense_Mutation	SNP	T	TCGA-P3-A5Q6-01A-11D-A28R-08		13776517	141494043	144	89017											
PLXNA3	55558	broad.mit.edu	37	chrX	153688832	153688832	+	Frame_Shift_Del	DEL	C	C	-																															aacaagctgctgctcatagaCtatgcggcccgccgcctggt																										TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chrX:153688832delC	ENST00000369682.3	+	2	484	c.309delC	c.(307-309)gafs	p.D103fs		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	103	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTCATAGACTATGCGGCCC	0.672													24	17	---	---	---	---					-	153688832	C	-	153688832	7	5	457	1	0	1	0	1	0	0	0	0	12193	564	20	0	311	0	PLXNA3	23	153688832	Frame_Shift_Del	DEL	C	TCGA-P3-A5Q6-01A-11D-A28R-08	139912315	153688832	1581728	145	89018											
AGRN	375790	broad.mit.edu	37	chr1	981638	981638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatccagagcctgggcccGtgccagggtgaggcctgacg	6	7	15	13	2	1	3	0	2	1	1	2	3	2	3	5	3	2	0	5	3	1	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:981638G>A	ENST00000379370.2	+	17	2954	c.2904G>A	c.(2902-2904)ccG>ccA	p.P968P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	968	Kazal-like 9.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCTGGGCCCGTGCCAGGGTG	0.637													24	113					0	0	0	0	A	981638	G	A	981638	2	1	458	1	0	0	0	0	0	0	0	1	397	1132	40	1		1	AGRN	1	981638	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08		981638	248268983	1	89019											
AGRN	375790	broad.mit.edu	37	chr1	985004	985004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatccgtttgctggacGtcaacaaccagcgcctggag	8	8	13	12	3	1	0	1	0	0	0	2	2	2	2	3	3	5	3	3	3	2	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:985004G>A	ENST00000379370.2	+	26	4623	c.4573G>A	c.(4573-4575)Gtc>Atc	p.V1525I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1525	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TTTGCTGGACGTCAACAACCA	0.721													3	12					0	0	0	0	A	985004	G	A	985004	3	1	458	1	0	0	0	0	1	0	0	0	397	1145	40	1	4675	1	AGRN	1	985004	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	3366	985004	248265617	2	89020											
PTCHD2	57540	broad.mit.edu	37	chr1	11575545	11575545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggggtggccgccttcGtgatcgtgggcattggtgag	5	11	18	7	3	0	3	0	3	0	0	2	3	0	3	2	5	0	1	2	5	1	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:11575545G>A	ENST00000294484.6	+	5	1711	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	525	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGCCTTCGTGATCGTGGG	0.587													15	72					0	0	0	0	A	11575545	G	A	11575545	3	1	458	1	0	0	0	0	1	0	0	0	12812	1145	40	1	1587	1	PTCHD2	1	11575545	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	10590541	11575545	237675076	3	89021											
RHD	6007	broad.mit.edu	37	chr1	25627441	25627441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttttattgcagacagActaccacatgaacatgatgc	12	11	9	9	0	0	4	0	2	0	2	0	4	0	4	1	1	4	2	1	1	3	4			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:25627441A>G	ENST00000328664.4	+	4	646	c.491A>G	c.(490-492)gAc>gGc	p.D164G	RHD_ENST00000423810.2_Missense_Mutation_p.D164G|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Missense_Mutation_p.D164G|RHD_ENST00000417538.2_Missense_Mutation_p.D164G|RHD_ENST00000342055.5_Missense_Mutation_p.D164G|RHD_ENST00000454452.2_Missense_Mutation_p.D164G|RHD_ENST00000357542.4_Missense_Mutation_p.D164G	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	164						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTGCAGACAGACTACCACATG	0.532													23	145					0	0	0	0	G	25627441	A	G	25627441	3	3	458	1	0	0	0	0	1	0	0	0	13410	275	10	5	505	5	RHD	1	25627441	Missense_Mutation	SNP	A	TCGA-P3-A5QA-01A-11D-A28R-08	14051896	25627441	223623180	4	89022											
SPOCD1	90853	broad.mit.edu	37	chr1	32280787	32280787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgccagccctgactcCgggcccagagcttgctcccg	4	8	11	18	2	1	2	0	1	1	1	3	2	3	2	5	1	5	3	5	1	0	1	rs34615674	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:32280787C>T	ENST00000360482.2	-	2	277	c.148G>A	c.(148-150)Gga>Aga	p.G50R	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G50R|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G50R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	50					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCCCTGACTCCGGGCCCAGAG	0.637													9	33					0	0	0	0	T	32280787	C	T	32280787	3	4	458	1	0	0	0	0	1	0	0	0	15168	661	23	1	3562	1	SPOCD1	1	32280787	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	6653346	32280787	216969834	5	89023											
CYP2J2	1573	broad.mit.edu	37	chr1	60377361	60377361	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaactatcctggtactcAaagcgttctccgaaggtgat	12	10	8	11	2	2	1	1	1	1	0	4	2	3	1	3	2	4	2	3	2	6	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:60377361A>C	ENST00000371204.3	-	4	646	c.603T>G	c.(601-603)ttT>ttG	p.F201L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	201					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CCTGGTACTCAAAGCGTTCTC	0.468													24	105					0	0	0	0	C	60377361	A	C	60377361	3	2	458	1	0	0	0	0	1	0	0	0	4204	127	5	5	929	5	CYP2J2	1	60377361	Missense_Mutation	SNP	A	TCGA-P3-A5QA-01A-11D-A28R-08	28096574	60377361	188873260	6	89024											
FCGR1B	2210	broad.mit.edu	37	chr1	120927141	120927141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaactgagccgctgctacGtggccccctggggctccttc	5	8	11	17	2	0	1	0	1	0	0	2	1	1	1	5	3	4	3	5	3	2	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:120927141G>A	ENST00000369384.4	-	5	881	c.839C>T	c.(838-840)aCg>aTg	p.T280M	FCGR1B_ENST00000369383.4_Missense_Mutation_p.T188M|RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	280					interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCGCTGCTACGTGGCCCCCTG	0.542													10	76					0	0	0	0	A	120927141	G	A	120927141	3	1	458	1	0	0	0	0	1	0	0	0	5825	1145	40	1	7	1	FCGR1B	1	120927141	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	60549780	120927141	128323480	7	89025											
SPTA1	6708	broad.mit.edu	37	chr1	158583611	158583611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcctctcaggcaggaccGgaactctttgtgagtcaggc	8	9	13	11	1	3	1	2	1	2	0	5	4	4	3	2	4	1	1	2	4	1	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:158583611G>A	ENST00000368148.3	-	50	7069	c.6889C>T	c.(6889-6891)Cgg>Tgg	p.R2297W	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2294W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2297	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGCAGGACCGGAACTCTTTG	0.433													14	28					0	0	0	0	A	158583611	G	A	158583611	3	1	458	1	0	0	0	0	1	0	0	0	15206	1115	39	1	382	1	SPTA1	1	158583611	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	37656470	158583611	90667010	8	89026											
C1orf112	55732	broad.mit.edu	37	chr1	169773286	169773286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggctcttttcaaggaggCctattctcttcaaaagcagt	10	12	8	11	0	4	0	2	0	2	0	5	1	4	1	2	3	1	2	2	3	4	5			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:169773286C>A	ENST00000286031.6	+	6	1083	c.383C>A	c.(382-384)gCc>gAc	p.A128D	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.A99D|C1orf112_ENST00000456684.1_Missense_Mutation_p.A186D|C1orf112_ENST00000359326.4_Missense_Mutation_p.A128D	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	128										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAAGGAGGCCTATTCTCTT	0.378													7	72					0.00307968	0.00313779	1	0	A	169773286	C	A	169773286	3	1	458	1	0	0	0	0	1	0	0	0	2004	739	26	4	397	4	C1orf112	1	169773286	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	11189675	169773286	79477335	9	89027											
CFH	3075	broad.mit.edu	37	chr1	196658607	196658607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatatcatgagaatatgcGtagaccatactttccagtag	13	13	7	8	1	2	2	1	1	1	2	3	3	3	2	2	0	2	2	2	0	7	7			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:196658607G>A	ENST00000367429.4	+	8	1262	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	CFH_ENST00000359637.2_Missense_Mutation_p.R277H|CFH_ENST00000439155.2_Missense_Mutation_p.R341H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	341	Sushi 6.				complement activation, alternative pathway	extracellular space		p.R341H(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGAATATGCGTAGACCATAC	0.333													10	60					0	0	0	0	A	196658607	G	A	196658607	3	1	458	1	0	0	0	0	1	0	0	0	3312	1145	40	1	1052	1	CFH	1	196658607	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	26885321	196658607	52592014	10	89028											
GALNT2	2590	broad.mit.edu	37	chr1	230415140	230415140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagagcgggggcctaaGcgtggaggtgtgtggcccgg	6	5	21	9	3	0	1	0	0	0	1	0	2	0	2	3	7	2	0	3	7	2	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:230415140G>A	ENST00000366672.4	+	16	1724	c.1652G>A	c.(1651-1653)aGc>aAc	p.S551N	GALNT2_ENST00000543760.1_Missense_Mutation_p.S513N|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	551	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGGGGCCTAAGCGTGGAGGTG	0.637													17	80					0	0	0	0	A	230415140	G	A	230415140	3	1	458	1	0	0	0	0	1	0	0	0	6262	971	34	4	1714	4	GALNT2	1	230415140	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	33756533	230415140	18835481	11	89029											
OR2L8	391190	broad.mit.edu	37	chr1	248112991	248112991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttctggctgtcttctacAccatcctcaccccaatgctc	7	12	6	16	0	4	0	1	0	3	0	6	0	5	0	4	2	2	3	4	2	2	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:248112991A>C	ENST00000357191.3	+	1	832	c.832A>C	c.(832-834)Acc>Ccc	p.T278P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGTCTTCTACACCATCCTCAC	0.493													21	123					0	0	0	0	C	248112991	A	C	248112991	3	2	458	1	0	0	0	0	1	0	0	0	11080	159	6	5	834	5	OR2L8	1	248112991	Missense_Mutation	SNP	A	TCGA-P3-A5QA-01A-11D-A28R-08	17697851	248112991	1137630	12	89030											
BIRC6	57448	broad.mit.edu	37	chr2	32768426	32768426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcaccagaaactgttgCggctgaacctccacctatca	12	8	8	13	1	1	3	1	2	0	1	2	3	2	3	4	1	4	3	4	1	4	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:32768426C>T	ENST00000421745.2	+	62	12544	c.12410C>T	c.(12409-12411)gCg>gTg	p.A4137V		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4137					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)					GAAACTGTTGCGGCTGAACCT	0.473													52	220					0	0	0	0	T	32768426	C	T	32768426	3	4	458	1	0	0	0	0	1	0	0	0	1443	768	27	1	12656	1	BIRC6	2	32768426	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08		32768426	210430947	13	89031											
NAT8	9027	broad.mit.edu	37	chr2	73868607	73868607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaccaggagtagggcgaggGgccccccaagtaagagtatg	12	4	16	9	1	0	2	0	0	0	2	0	4	0	3	4	4	0	3	4	4	4	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:73868607G>A	ENST00000272425.3	-	2	298	c.149C>T	c.(148-150)cCc>cTc	p.P50L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	50					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TAGGGCGAGGGGCCCCCCAAG	0.612													26	49					0	0	0	0	A	73868607	G	A	73868607	3	1	458	1	0	0	0	0	1	0	0	0	10249	1232	43	4	538	4	NAT8	2	73868607	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	41100181	73868607	169330766	14	89032											
RAPH1	65059	broad.mit.edu	37	chr2	204306114	204306114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagtgaagtgtagggcCgattcatagactccattctg	11	10	11	9	1	2	2	1	1	1	1	3	3	3	2	2	1	0	2	2	1	4	4	rs76891512		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:204306114C>T	ENST00000319170.5	-	14	2098	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	RAPH1_ENST00000374493.3_Missense_Mutation_p.R652Q|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	600					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGTAGGGCCGATTCATAGA	0.483													11	48					0	0	0	0	T	204306114	C	T	204306114	3	4	458	1	0	0	0	0	1	0	0	0	13132	652	23	1	1957	1	RAPH1	2	204306114	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	130437507	204306114	38893259	15	89033											
TNS1	7145	broad.mit.edu	37	chr2	218683176	218683176	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagccaggactagggggAgtgttggtgcccactgttct	7	9	15	10	1	1	0	0	0	1	0	1	3	1	2	3	4	2	2	3	4	2	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:218683176A>G	ENST00000171887.4	-	24	4019	c.3567T>C	c.(3565-3567)acT>acC	p.T1189T	TNS1_ENST00000419504.1_Silent_p.T1176T|TNS1_ENST00000430930.1_Silent_p.T1168T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1189						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTAGGGGGAGTGTTGGTGC	0.647													4	123					0	0	0	0	G	218683176	A	G	218683176	2	3	458	1	0	0	0	0	0	0	0	1	16437	291	11	5		5	TNS1	2	218683176	Silent	SNP	A	TCGA-P3-A5QA-01A-11D-A28R-08	14377062	218683176	24516197	16	89034											
AGAP1	116987	broad.mit.edu	37	chr2	236957747	236957747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggagccctcatgtgcatcGaatgctcagggatccaccgg	8	8	13	12	2	2	0	2	0	0	0	4	3	3	2	3	3	3	2	3	3	1	0			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:236957747G>A	ENST00000409538.1	+	15	3068	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	AGAP1_ENST00000336665.5_Missense_Mutation_p.E593K|AGAP1_ENST00000304032.7_Missense_Mutation_p.E646K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E485K			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	646					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGTGCATCGAATGCTCAGG	0.532													16	112					0	0	0	0	A	236957747	G	A	236957747	3	1	458	1	0	0	0	0	1	0	0	0	366	1059	37	1	1998	1	AGAP1	2	236957747	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	18274571	236957747	6241626	17	89035											
LPHN3	23284	broad.mit.edu	37	chr4	62910180	62910180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacccagagccgaatcCgtagaatgtggaatgacacg	12	5	10	14	3	0	3	0	1	0	2	1	5	1	4	5	1	1	1	5	1	4	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr4:62910180C>T	ENST00000512091.1	+	24	4270	c.3523C>T	c.(3523-3525)Cgt>Tgt	p.R1175C	LPHN3_ENST00000508946.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1243C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1153					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						GAGCCGAATCCGTAGAATGTG	0.388													6	10					0	0	0	0	T	62910180	C	T	62910180	3	4	458	1	0	0	0	0	1	0	0	0	8981	652	23	1	3609	1	LPHN3	4	62910180	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08		62910180	128244096	18	89036											
NDST3	9348	broad.mit.edu	37	chr4	119059214	119059214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttggtcttaggagcaCggcattccaacggacatggg	8	11	13	9	2	1	0	0	0	1	0	2	2	2	2	1	5	3	3	1	5	2	4			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr4:119059214C>T	ENST00000296499.5	+	5	1633	c.1230C>T	c.(1228-1230)caC>caT	p.H410H	NDST3_ENST00000433996.2_Silent_p.H329H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	410	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTAGGAGCACGGCATTCCAA	0.418													10	56					0	0	0	0	T	119059214	C	T	119059214	2	4	458	1	0	0	0	0	0	0	0	1	10327	535	19	1		1	NDST3	4	119059214	Silent	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	56149034	119059214	72095062	19	89037											
PRSS48	345062	broad.mit.edu	37	chr4	152203538	152203538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccttttgttgggtgaccGgatggggaaaagttaaggaa	11	10	14	6	1	0	1	0	1	0	0	0	4	0	4	2	5	0	2	2	5	4	4			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr4:152203538G>A	ENST00000455694.2	+	3	456	c.454G>A	c.(454-456)Gga>Aga	p.G152R	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	152	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TTGGGTGACCGGATGGGGAAA	0.463													40	55					0	0	0	0	A	152203538	G	A	152203538	3	1	458	1	0	0	0	0	1	0	0	0	12709	1117	39	1	464	1	PRSS48	4	152203538	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	33144324	152203538	38950738	20	89038											
PALLD	23022	broad.mit.edu	37	chr4	169433253	169433253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaatggggagtcctcgtcaCcagacagtgggtacctgtct	9	9	12	11	1	2	1	1	0	1	1	4	2	3	2	3	3	1	1	3	3	2	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr4:169433253C>T	ENST00000261509.6	+	2	809	c.598C>T	c.(598-600)Cca>Tca	p.P200S	PALLD_ENST00000505667.1_Missense_Mutation_p.P200S|PALLD_ENST00000333488.4_Missense_Mutation_p.P77S|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	200					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCCTCGTCACCAGACAGTGG	0.512									Pancreatic Cancer, Familial Clustering of				6	272					0	0	0	0	T	169433253	C	T	169433253	3	4	458	1	0	0	0	0	1	0	0	0	11478	507	18	4	600	4	PALLD	4	169433253	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	17229715	169433253	21721023	21	89039											
SEMA5A	9037	broad.mit.edu	37	chr5	9063074	9063074	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcccccatacttgggttCggggttgttgcaaacacgct	7	12	10	12	2	0	0	0	0	0	0	2	0	1	0	2	3	3	5	2	3	2	6			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:9063074C>A	ENST00000382496.5	-	18	3108	c.2443G>T	c.(2443-2445)Gaa>Taa	p.E815*		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	815	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TACTTGGGTTCGGGGTTGTTG	0.562													19	112					1.96292e-10	2.16322e-10	1	0	A	9063074	C	A	9063074	4	1	458	1	0	0	0	0	0	1	0	0	14124	893	31	3	805	3	SEMA5A	5	9063074	Nonsense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08		9063074	171852186	22	89040											
PRDM9	56979	broad.mit.edu	37	chr5	23510065	23510065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagctttcatgtgtcaccGaaggcaggccatcaaactcc	11	8	8	14	1	3	0	3	0	0	0	4	1	4	0	4	2	2	2	4	2	2	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:23510065G>A	ENST00000296682.3	+	4	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	77	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468										HNSCC(3;0.000094)			8	98					0	0	0	0	A	23510065	G	A	23510065	3	1	458	1	0	0	0	0	1	0	0	0	12543	1058	37	1	240	1	PRDM9	5	23510065	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	14446991	23510065	157405195	23	89041											
NUP155	9631	broad.mit.edu	37	chr5	37301542	37301542	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgcttttttattaccttAgttatgtccatcagctcaga	9	18	5	9	0	2	1	2	0	0	1	3	1	3	1	2	0	3	3	2	0	4	7			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:37301542A>G	ENST00000231498.3	-	30	3761	c.3558T>C	c.(3556-3558)acT>acC	p.T1186T	NUP155_ENST00000513532.1_Silent_p.T1122T|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.T1127T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1186					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTATTACCTTAGTTATGTCCA	0.333													11	92					0	0	0	0	G	37301542	A	G	37301542	2	3	458	1	0	0	0	0	0	0	0	1	10827	407	15	5		5	NUP155	5	37301542	Silent	SNP	A	TCGA-P3-A5QA-01A-11D-A28R-08	13791477	37301542	143613718	24	89042											
SLCO6A1	133482	broad.mit.edu	37	chr5	101815931	101815931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcattaatggatggaaaaGcacataaaagtgatccaagt	17	10	8	6	0	1	1	1	1	0	0	2	3	2	3	1	2	1	1	1	2	6	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:101815931G>T	ENST00000506729.1	-	2	737	c.566C>A	c.(565-567)gCt>gAt	p.A189D	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.A189D|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.A189D|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A189D|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A189D			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	189						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGATGGAAAAGCACATAAAAG	0.308													9	44					1.12685e-05	1.20495e-05	1	0	T	101815931	G	T	101815931	3	4	458	1	0	0	0	0	1	0	0	0	14820	971	34	4	1641	4	SLCO6A1	5	101815931	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	64514389	101815931	79099329	25	89043											
TRIM36	55521	broad.mit.edu	37	chr5	114515698	114515698	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagctatcaattccatgaTgtagccaaattcactcatct	12	15	4	10	0	4	1	3	1	1	0	5	1	5	1	2	0	2	2	2	0	5	6			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:114515698T>G	ENST00000282369.3	-	1	158	c.37A>C	c.(37-39)Atc>Ctc	p.I13L	TRIM36_ENST00000379617.2_Missense_Mutation_p.I13L|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.I13L	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	13						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AATTCCATGATGTAGCCAAAT	0.572													12	112					0	0	0	0	G	114515698	T	G	114515698	3	3	458	1	0	0	0	0	1	0	0	0	16605	1464	51	5	2440	5	TRIM36	5	114515698	Missense_Mutation	SNP	T	TCGA-P3-A5QA-01A-11D-A28R-08	12699767	114515698	66399562	26	89044											
PCDHA10	56139	broad.mit.edu	37	chr5	140237174	140237174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcggtgcacgcggagagcgGcaaggtgtacgcgctgcagc	7	5	18	11	6	0	1	0	0	0	1	1	2	0	1	0	4	5	5	0	4	2	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:140237174G>A	ENST00000307360.5	+	1	1541	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G514D|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGAGCGGCAAGGTGTAC	0.697													48	191					0	0	0	0	A	140237174	G	A	140237174	3	1	458	1	0	0	0	0	1	0	0	0	11591	1203	42	4	1543	4	PCDHA10	5	140237174	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	25721476	140237174	40678086	27	89045											
PCDHGB2	56103	broad.mit.edu	37	chr5	140742042	140742042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggttcccgcgcaagatctCgtctgtgacaatgcctcttg	6	13	10	12	3	3	2	0	1	3	1	5	2	4	2	2	1	1	2	2	1	2	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:140742042C>T	ENST00000522605.1	+	1	2340	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAAGATCTCGTCTGTGACA	0.443													16	104					0	0	0	0	T	140742042	C	T	140742042	2	4	458	1	0	0	0	0	0	0	0	1	11634	871	31	1		1	PCDHGB2	5	140742042	Silent	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	504868	140742042	40173218	28	89046											
HK3	3101	broad.mit.edu	37	chr5	176314638	176314638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccagacgggcagccaCggcagtcaccatcgccactc	9	3	12	17	3	1	1	1	0	0	1	3	1	1	1	4	3	2	3	4	3	0	0			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:176314638C>T	ENST00000292432.5	-	11	1505	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	472	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCAGCCACGGCAGTCACC	0.652													14	60					0	0	0	0	T	176314638	C	T	176314638	3	4	458	1	0	0	0	0	1	0	0	0	7242	536	19	1	1393	1	HK3	5	176314638	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	35572596	176314638	4600622	29	89047											
OR2B6	26212	broad.mit.edu	37	chr6	27925800	27925800	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtctctgtgtacctgcAaccaccttcgcccagctcca	7	9	7	18	2	1	0	0	0	1	0	4	0	2	0	6	0	5	3	6	0	2	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr6:27925800A>C	ENST00000244623.1	+	1	782	c.782A>C	c.(781-783)cAa>cCa	p.Q261P		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGTACCTGCAACCACCTTCG	0.448													21	116					0	0	0	0	C	27925800	A	C	27925800	3	2	458	1	0	0	0	0	1	0	0	0	11062	130	5	5	784	5	OR2B6	6	27925800	Missense_Mutation	SNP	A	TCGA-P3-A5QA-01A-11D-A28R-08		27925800	143189267	30	89048											
TJAP1	93643	broad.mit.edu	37	chr6	43469298	43469298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaagagcttcgccggCgcctggcctccgccaccaga	9	5	12	15	4	0	4	0	1	0	3	2	4	1	4	6	2	1	1	6	2	2	1	rs149220687		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr6:43469298C>T	ENST00000372444.2	+	7	596	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	TJAP1_ENST00000438588.2_Missense_Mutation_p.R55C|TJAP1_ENST00000259751.1_Missense_Mutation_p.R55C|TJAP1_ENST00000372445.5_Missense_Mutation_p.R55C|TJAP1_ENST00000372449.1_Missense_Mutation_p.R55C|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372452.1_Missense_Mutation_p.R55C|TJAP1_ENST00000436109.2_Missense_Mutation_p.R55C	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	55						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTTCGCCGGCGCCTGGCCTC	0.632													14	75					0	0	0	0	T	43469298	C	T	43469298	3	4	458	1	0	0	0	0	1	0	0	0	16022	768	27	1	173	1	TJAP1	6	43469298	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	15543498	43469298	127645769	31	89049											
MLLT4	4301	broad.mit.edu	37	chr6	168315999	168315999	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacccagattcggggctGtgctcccattactggggtgc	6	9	13	13	2	0	1	0	0	0	1	2	2	1	1	3	4	3	2	3	4	1	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr6:168315999G>T	ENST00000366806.2	+	18	2572	c.2430G>T	c.(2428-2430)ctG>ctT	p.L810L	MLLT4_ENST00000392112.1_Silent_p.L794L|MLLT4_ENST00000447894.2_Silent_p.L810L|MLLT4_ENST00000344191.4_Silent_p.L810L|MLLT4_ENST00000400822.3_Silent_p.L809L|MLLT4_ENST00000351017.4_Silent_p.L817L|MLLT4_ENST00000392108.3_Silent_p.L810L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	810	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATTCGGGGCTGTGCTCCCATT	0.547			T	MLL	AL								5	55					0.014758	0.0148959	1	0	T	168315999	G	T	168315999	2	4	458	1	0	0	0	0	0	0	0	1	9698	1364	48	4		4	MLLT4	6	168315999	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	124846701	168315999	2799068	32	89050											
SDK1	221935	broad.mit.edu	37	chr7	4091385	4091385	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagtttaccgcctactTcacttccgttctgtgcttca	8	14	7	12	2	3	1	2	0	1	1	4	2	4	1	3	0	3	3	3	0	4	7			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:4091385T>A	ENST00000404826.2	+	19	2973	c.2834T>A	c.(2833-2835)tTc>tAc	p.F945Y	SDK1_ENST00000389531.3_Missense_Mutation_p.F945Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	945	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCGCCTACTTCACTTCCGTT	0.562													24	157					0	0	0	0	A	4091385	T	A	4091385	3	1	458	1	0	0	0	0	1	0	0	0	14055	1783	62	5	2908	5	SDK1	7	4091385	Missense_Mutation	SNP	T	TCGA-P3-A5QA-01A-11D-A28R-08		4091385	155047278	33	89051											
SDK1	221935	broad.mit.edu	37	chr7	4169591	4169591	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccaggagccacatcgtgCgagggaaccacacgcagtcg	11	3	13	14	4	0	0	0	0	0	0	2	3	0	2	3	2	4	1	3	2	1	0			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:4169591C>T	ENST00000404826.2	+	27	4130	c.3991C>T	c.(3991-3993)Cga>Tga	p.R1331*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1331*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1331	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACATCGTGCGAGGGAACCA	0.652													23	99					0	0	0	0	T	4169591	C	T	4169591	4	4	458	1	0	0	0	0	0	1	0	0	14055	760	27	1	4097	1	SDK1	7	4169591	Nonsense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	78206	4169591	154969072	34	89052											
SEMA3A	10371	broad.mit.edu	37	chr7	83758445	83758445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttaatgcttaccaggatGtcttttccagcccacttgca	9	13	8	11	0	1	0	0	0	1	0	2	1	2	1	3	2	4	3	3	2	2	5			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:83758445G>A	ENST00000265362.3	-	3	641	c.327C>T	c.(325-327)gaC>gaT	p.D109D	SEMA3A_ENST00000436949.1_Silent_p.D109D	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	109	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTACCAGGATGTCTTTTCCAG	0.353													13	71					0	0	0	0	A	83758445	G	A	83758445	2	1	458	1	0	0	0	0	0	0	0	1	14111	1368	48	4		4	SEMA3A	7	83758445	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	79588854	83758445	75380218	35	89053											
TRIM56	81844	broad.mit.edu	37	chr7	100732306	100732307	+	Frame_Shift_Del	DEL	TC	TC	-																															tccgctagcgcacggctctaTctcatcaaccccaacggcga																										TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:100732306_100732307delTC	ENST00000306085.6	+	3	2010_2011	c.1713_1714delTC	c.(1711-1716)tatcfs	p.YL571fs		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	571					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGGCTCTATCTCATCAACCC	0.708													22	303	---	---	---	---					-	100732307	TC	-	100732306	7	5	458	1	0	1	0	1	0	0	0	0	16625	1442	50	0	1715	0	TRIM56	7	100732306	Frame_Shift_Del	DEL	TC	TCGA-P3-A5QA-01A-11D-A28R-08	16973861	100732306	58406357	36	89054											
TMEM168	64418	broad.mit.edu	37	chr7	112423832	112423832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatcaagcaaaaatggCgcatccctttggatgccatg	13	9	9	10	1	1	1	1	1	0	0	2	2	2	2	2	2	2	2	2	2	4	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:112423832C>T	ENST00000312814.5	-	2	1609	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	TMEM168_ENST00000454074.1_Missense_Mutation_p.R350H	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	350						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCAAAAATGGCGCATCCCTTT	0.408													31	159					0	0	0	0	T	112423832	C	T	112423832	3	4	458	1	0	0	0	0	1	0	0	0	16177	768	27	1	1060	1	TMEM168	7	112423832	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	11691526	112423832	46714831	37	89055											
YTHDF3	253943	broad.mit.edu	37	chr8	64100088	64100088	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttgaagttaaatggatcTttgtcaaagatgttcccaat	14	15	7	5	0	2	2	1	1	1	1	3	3	3	3	1	1	0	2	1	1	6	4			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr8:64100088T>G	ENST00000539294.1	+	4	1832	c.1516T>G	c.(1516-1518)Ttt>Gtt	p.F506V	YTHDF3_ENST00000542911.2_Missense_Mutation_p.F317V|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	507	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAATGGATCTTTGTCAAAGA	0.413													5	49					0	0	0	0	G	64100088	T	G	64100088	3	3	458	1	0	0	0	0	1	0	0	0	17596	1596	56	5	1532	5	YTHDF3	8	64100088	Missense_Mutation	SNP	T	TCGA-P3-A5QA-01A-11D-A28R-08		64100088	82263934	38	89056											
EPPK1	83481	broad.mit.edu	37	chr8	144940786	144940786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgcttgacgcggtcgtcCtccatgagctcttgcgtcgt	4	12	12	13	6	1	2	0	2	1	0	5	2	3	2	2	1	3	2	2	1	1	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr8:144940786C>T	ENST00000525985.1	-	2	6707	c.6636G>A	c.(6634-6636)gaG>gaA	p.E2212E				P58107	EPIPL_HUMAN	epiplakin 1	2212						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGGTCGTCCTCCATGAGCT	0.622													38	282					0	0	0	0	T	144940786	C	T	144940786	2	4	458	1	0	0	0	0	0	0	0	1	5228	680	24	4		4	EPPK1	8	144940786	Silent	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	80840698	144940786	1423236	39	89057											
RLN2	6019	broad.mit.edu	37	chr9	5304549	5304549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttcagtagtaaacagactCctagcaggtggaaaaaaaac	17	7	10	7	0	1	1	1	0	0	1	2	2	2	2	1	3	3	4	1	3	8	4	rs2012109	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:5304549C>T	ENST00000381627.3	-	1	420	c.32G>A	c.(31-33)gGa>gAa	p.G11E	RLN2_ENST00000308420.3_Missense_Mutation_p.G11E	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	11					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TAAACAGACTCCTAGCAGGTG	0.527													7	119					0	0	0	0	T	5304549	C	T	5304549	3	4	458	1	0	0	0	0	1	0	0	0	13477	855	30	2	638	2	RLN2	9	5304549	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08		5304549	135908882	40	89058											
CDKN2A	1029	broad.mit.edu	37	chr9	21974696	21974697	+	Frame_Shift_Ins	INS	-	-	A																															ctggatcggcctccgaccgtINSaactattcggtgcgttgggc																										TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:21974696_21974697insA	ENST00000304494.5	-	1	400_401	c.130_131insT	c.(130-132)cggfs	p.R44fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.R44fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.R44fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.R44fs|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCGACCGTAACTATTCGGT	0.688		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			43	199	---	---	---	---					A	21974697	-	A	21974696	7	5	458	1	0	1	1	0	0	0	0	0	3190	1638	57	0	552	0	CDKN2A	9	21974696	Frame_Shift_Ins	INS	-	TCGA-P3-A5QA-01A-11D-A28R-08	16670147	21974696	119238735	41	89059			1	143		2	2	30	N	CGCCTCCAGCAGCGCCCG_-	8.337096e-05
CDKN2A	1029	broad.mit.edu	37	chr9	21974725	21974742	+	In_Frame_Del	DEL	CGCCTCCAGCAGCGCCCG	CGCCTCCAGCAGCGCCCG	-																															ggtgcgttgggcagcgccccCgcctccagcagcgcccgcac																										TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:21974725_21974742delCGCCTCCAGCAGCGCCCG	ENST00000304494.5	-	1	355_372	c.85_102delCGGGCGCTGCTGGAGGCG	c.(85-102)del	p.RALLEA29del	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	29					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.A34V(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.A30A(2)|p.G35fs*13(1)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.L31P(1)|p.A34A(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.A36fs*8(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGCCCCCGCCTCCAGCAGCGCCCGCACCTCCTCT	0.734		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	161	---	---	---	---					-	21974742	CGCCTCCAGCAGCGCCCG	-	21974725	7	5	458	1	0	1	0	1	0	0	0	0	3190	639	23	0	581	0	CDKN2A	9	21974725	In_Frame_Del	DEL	CGCCTCCAGCAGCGCCCG	TCGA-P3-A5QA-01A-11D-A28R-08	29	21974725	119238706	42	89060			1	143		2	2	30	N	CGCCTCCAGCAGCGCCCG_-	8.337096e-05
ELAVL2	1993	broad.mit.edu	37	chr9	23701496	23701496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattagcaaactttacagtGattggctccgtggcaccggg	9	12	11	9	2	0	1	0	1	0	0	1	1	1	1	2	3	3	3	2	3	4	5			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:23701496G>A	ENST00000397312.2	-	5	868	c.594C>T	c.(592-594)atC>atT	p.I198I	ELAVL2_ENST00000544538.1_Silent_p.I198I|ELAVL2_ENST00000380110.4_Silent_p.I227I|ELAVL2_ENST00000380117.1_Silent_p.I198I|ELAVL2_ENST00000223951.6_Silent_p.I198I	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	198	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACTTTACAGTGATTGGCTCCG	0.488													41	141					0	0	0	0	A	23701496	G	A	23701496	2	1	458	1	0	0	0	0	0	0	0	1	5088	1280	45	2		2	ELAVL2	9	23701496	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	1726771	23701496	117511935	43	89061											
SLC18A3	6572	broad.mit.edu	37	chr10	50819554	50819554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgtcgctctttgacgcGctgttgctgctggcagtggc	2	12	15	12	4	1	1	0	1	1	0	2	1	1	1	1	2	2	6	1	2	0	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr10:50819554G>A	ENST00000374115.3	+	1	1208	c.768G>A	c.(766-768)gcG>gcA	p.A256A	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	256					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCTTTGACGCGCTGTTGCTGC	0.662													12	40					0	0	0	0	A	50819554	G	A	50819554	2	1	458	1	0	0	0	0	0	0	0	1	14515	1074	38	1		1	SLC18A3	10	50819554	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08		50819554	84715193	44	89062											
OR51F1	256892	broad.mit.edu	37	chr11	4790345	4790345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactactctgggggctgacCgaccatagcgatacaccaag	11	6	12	12	2	1	1	0	1	1	0	1	4	1	2	3	3	3	1	3	3	4	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:4790345C>T	ENST00000380383.1	-	1	823	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.R268Q			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	268						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGGGGCTGACCGACCATAGCG	0.493													10	82					0	0	0	0	T	4790345	C	T	4790345	3	4	458	1	0	0	0	0	1	0	0	0	11167	652	23	1	138	1	OR51F1	11	4790345	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08		4790345	130216171	45	89063											
SLC43A3	29015	broad.mit.edu	37	chr11	57185305	57185308	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															gtgctacatgccaggtactgCagacagagatgaagatgaag																										TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:57185305_57185308delCAGA	ENST00000395123.2	-	8	888_891	c.584_587delTCTG	c.(583-588)gcfs	p.VC195fs	SLC43A3_ENST00000529554.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000352187.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000533524.1_Frame_Shift_Del_p.VC208fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Del_p.VC195fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	195					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGGTACTGCAGACAGAGATGAA	0.525													9	88	---	---	---	---					-	57185308	CAGA	-	57185305	7	5	458	1	0	1	0	1	0	0	0	0	14722	710	25	0	916	0	SLC43A3	11	57185305	Frame_Shift_Del	DEL	CAGA	TCGA-P3-A5QA-01A-11D-A28R-08	52394960	57185305	77821211	46	89064											
INTS5	80789	broad.mit.edu	37	chr11	62416624	62416624	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcgcaggagctcccgtcGgatgctatctccgtggcggg	5	9	14	13	5	1	0	0	0	1	0	5	2	2	2	2	4	2	3	2	4	1	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:62416624G>A	ENST00000330574.2	-	2	980	c.928C>T	c.(928-930)Cga>Tga	p.R310*		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	310					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGCTCCCGTCGGATGCTATCT	0.622													30	156					0	0	0	0	A	62416624	G	A	62416624	4	1	458	1	0	0	0	0	0	1	0	0	7834	1124	39	1	2135	1	INTS5	11	62416624	Nonsense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	5231319	62416624	72589892	47	89065											
DCUN1D5	84259	broad.mit.edu	37	chr11	102954040	102954040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccattccttctggccctAcaacttcatcaggaccttca	8	14	4	15	0	4	0	3	0	1	0	6	1	6	1	4	2	2	0	4	2	2	6			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:102954040A>C	ENST00000260247.5	-	3	536	c.194T>G	c.(193-195)gTa>gGa	p.V65G	DCUN1D5_ENST00000531543.1_Intron	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	65	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		TTCTGGCCCTACAACTTCATC	0.323													3	35					0	0	0	0	C	102954040	A	C	102954040	3	2	458	1	0	0	0	0	1	0	0	0	4349	391	14	5	543	5	DCUN1D5	11	102954040	Missense_Mutation	SNP	A	TCGA-P3-A5QA-01A-11D-A28R-08	40537416	102954040	32052476	48	89066											
IGSF9B	22997	broad.mit.edu	37	chr11	133801985	133801985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcaacctgcaggggaCggccgtccttgttccacttg	5	11	10	15	2	1	0	1	0	1	0	4	1	3	1	5	3	2	2	5	3	1	4			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:133801985C>T	ENST00000321016.8	-	8	1321	c.1091G>A	c.(1090-1092)cGt>cAt	p.R364H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R364H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	364	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGCAGGGGACGGCCGTCCTT	0.607													4	32					0	0	0	0	T	133801985	C	T	133801985	3	4	458	1	0	0	0	0	1	0	0	0	7659	536	19	1	3006	1	IGSF9B	11	133801985	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	30847945	133801985	1204531	49	89067											
KRT5	3852	broad.mit.edu	37	chr12	52910505	52910506	+	Frame_Shift_Ins	INS	-	-	CA																															gttcatgagctcctggtactINScacgcagcagccgggccatg																										TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:52910505_52910506insCA	ENST00000252242.4	-	7	1744_1745	c.1354_1355insTG	c.(1354-1356)gtafs	p.V452fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	452	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCTGGTACTCACGCAGCAGC	0.634													32	211	---	---	---	---					CA	52910506	-	CA	52910505	7	5	458	1	0	1	1	0	0	0	0	0	8531	1551	54	0	429	0	KRT5	12	52910505	Frame_Shift_Ins	INS	-	TCGA-P3-A5QA-01A-11D-A28R-08		52910505	80941390	50	89068											
PDE1B	5153	broad.mit.edu	37	chr12	54968998	54968998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatggaggaattcttccGtcaggtagcgtggcatcttt	7	13	11	10	2	4	0	2	0	2	0	5	2	5	2	2	4	1	2	2	4	2	4	rs143206355		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:54968998G>A	ENST00000243052.3	+	11	1617	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R374H|PDE1B_ENST00000538346.1_Missense_Mutation_p.R353H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	394	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GAATTCTTCCGTCAGGTAGCG	0.572													6	81					0	0	0	0	A	54968998	G	A	54968998	3	1	458	1	0	0	0	0	1	0	0	0	11705	1145	40	1	1276	1	PDE1B	12	54968998	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	2058493	54968998	78882897	51	89069											
OR6C65	403282	broad.mit.edu	37	chr12	55795015	55795015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcccagcaaaggaaaaagGctttttcaacttgttcctcc	11	11	7	12	0	1	0	1	0	0	0	3	1	3	1	3	2	3	3	3	2	4	4			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:55795015G>T	ENST00000379665.2	+	1	802	c.703G>T	c.(703-705)Gct>Tct	p.A235S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AAGGAAAAAGGCTTTTTCAAC	0.393													26	69					4.26978e-12	4.75398e-12	1	0	T	55795015	G	T	55795015	3	4	458	1	0	0	0	0	1	0	0	0	11266	1203	42	4	705	4	OR6C65	12	55795015	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	826017	55795015	78056880	52	89070											
CPM	1368	broad.mit.edu	37	chr12	69260699	69260699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcacctgctttatatatTcaattaatgaggctttgtta	10	17	8	6	0	1	1	1	1	0	0	1	1	1	1	1	2	2	4	1	2	6	8			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:69260699T>C	ENST00000551568.1	-	7	977	c.917A>G	c.(916-918)gAa>gGa	p.E306G	CPM_ENST00000546373.1_Missense_Mutation_p.E306G|CPM_ENST00000338356.3_Missense_Mutation_p.E306G	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	306					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CTTTATATATTCAATTAATGA	0.373													9	51					0	0	0	0	C	69260699	T	C	69260699	3	2	458	1	0	0	0	0	1	0	0	0	3838	1783	62	5	426	5	CPM	12	69260699	Missense_Mutation	SNP	T	TCGA-P3-A5QA-01A-11D-A28R-08	13465684	69260699	64591196	53	89071											
BRAP	8315	broad.mit.edu	37	chr12	112098426	112098426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgaacaccacactcaaaaCacttattttcttctactggc	12	12	3	14	0	3	1	1	1	2	0	3	1	3	1	2	1	3	0	2	1	5	5			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:112098426C>T	ENST00000419234.4	-	7	1143	c.950G>A	c.(949-951)tGt>tAt	p.C317Y	BRAP_ENST00000327551.6_Missense_Mutation_p.C287Y|BRAP_ENST00000539060.1_Missense_Mutation_p.C138Y	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	317					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACACTCAAAACACTTATTTTC	0.403													19	130					0	0	0	0	T	112098426	C	T	112098426	3	4	458	1	0	0	0	0	1	0	0	0	1505	478	17	4	852	4	BRAP	12	112098426	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	42837727	112098426	21753469	54	89072											
ABCB9	23457	broad.mit.edu	37	chr12	123434439	123434439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaatatgagggtaaaaatgCcgccccgaatacctgcggca	14	6	10	11	3	0	1	0	1	0	0	0	2	0	1	4	2	3	2	4	2	7	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:123434439C>T	ENST00000542678.1	-	4	3581	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ABCB9_ENST00000280560.8_Missense_Mutation_p.G248D|ABCB9_ENST00000392439.3_Missense_Mutation_p.G248D|ABCB9_ENST00000442833.2_Missense_Mutation_p.G248D|ABCB9_ENST00000540285.1_Missense_Mutation_p.G248D|ABCB9_ENST00000442028.2_Missense_Mutation_p.G248D|ABCB9_ENST00000346530.5_Missense_Mutation_p.G248D|ABCB9_ENST00000344275.7_Missense_Mutation_p.G248D			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	248	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGTAAAAATGCCGCCCCGAAT	0.522													5	226					0	0	0	0	T	123434439	C	T	123434439	3	4	458	1	0	0	0	0	1	0	0	0	48	739	26	4	1593	4	ABCB9	12	123434439	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	11336013	123434439	10417456	55	89073											
PARP4	143	broad.mit.edu	37	chr13	25021240	25021240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctggggcctgcagggcctCgggcacatctggattgagtt	5	9	17	10	1	1	1	0	1	1	0	2	2	1	2	2	6	1	4	2	6	0	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr13:25021240C>T	ENST00000381989.3	-	26	3304	c.3199G>A	c.(3199-3201)Gag>Aag	p.E1067K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1067					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGCAGGGCCTCGGGCACATCT	0.507													6	94					0	0	0	0	T	25021240	C	T	25021240	3	4	458	1	0	0	0	0	1	0	0	0	11534	893	31	1	2011	1	PARP4	13	25021240	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08		25021240	90148638	56	89074											
CLDN10	9071	broad.mit.edu	37	chr13	96212437	96212437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgtcagcctgggctTctttggttccatatttgcgc	3	15	11	12	2	2	0	1	0	1	0	3	0	3	0	2	2	3	4	2	2	1	5			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr13:96212437T>C	ENST00000376873.3	+	2	496	c.266T>C	c.(265-267)tTc>tCc	p.F89S	CLDN10_ENST00000299339.2_Missense_Mutation_p.F91S|CLDN10_ENST00000376855.1_Missense_Mutation_p.F9S	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	91					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			AGCCTGGGCTTCTTTGGTTCC	0.438													16	58					0	0	0	0	C	96212437	T	C	96212437	3	2	458	1	0	0	0	0	1	0	0	0	3502	1783	62	5	496	5	CLDN10	13	96212437	Missense_Mutation	SNP	T	TCGA-P3-A5QA-01A-11D-A28R-08	71191197	96212437	18957441	57	89075											
FSCB	84075	broad.mit.edu	37	chr14	44974862	44974862	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggtctccatagctgtTgaaagctgaagttctcgagc	9	10	13	9	1	2	2	0	2	2	0	4	3	2	2	1	2	3	5	1	2	3	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr14:44974862T>C	ENST00000340446.4	-	1	1620	c.1329A>G	c.(1327-1329)tcA>tcG	p.S443S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	443						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CCATAGCTGTTGAAAGCTGAA	0.488													3	30					0	0	0	0	C	44974862	T	C	44974862	2	2	458	1	0	0	0	0	0	0	0	1	6114	1799	63	5		5	FSCB	14	44974862	Silent	SNP	T	TCGA-P3-A5QA-01A-11D-A28R-08		44974862	62374678	58	89076											
TXNDC16	57544	broad.mit.edu	37	chr14	52985898	52985898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttaaagaatacctggtattCcaatggctcttacatatgag	13	13	8	7	0	1	2	0	1	1	1	2	2	2	2	2	2	2	3	2	2	8	6			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr14:52985898C>T	ENST00000281741.4	-	7	877	c.506G>A	c.(505-507)gGa>gAa	p.G169E	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	169					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACCTGGTATTCCAATGGCTCT	0.323													7	31					0	0	0	0	T	52985898	C	T	52985898	3	4	458	1	0	0	0	0	1	0	0	0	16891	855	30	2	2031	2	TXNDC16	14	52985898	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	8011036	52985898	54363642	59	89077											
OCA2	4948	broad.mit.edu	37	chr15	28228550	28228550	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggtccccgatggcagTggcagctcctccaatgtttg	6	10	14	11	1	0	0	0	0	0	0	3	2	3	1	4	4	1	4	4	4	1	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr15:28228550T>G	ENST00000354638.3	-	14	1599	c.1444A>C	c.(1444-1446)Act>Cct	p.T482P	OCA2_ENST00000382996.2_Missense_Mutation_p.T482P|OCA2_ENST00000353809.5_Missense_Mutation_p.T458P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	482					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCGATGGCAGTGGCAGCTCCT	0.478									Oculocutaneous Albinism				12	74					0	0	0	0	G	28228550	T	G	28228550	3	3	458	1	0	0	0	0	1	0	0	0	10886	1696	59	5	1116	5	OCA2	15	28228550	Missense_Mutation	SNP	T	TCGA-P3-A5QA-01A-11D-A28R-08		28228550	74302842	60	89078											
STOML1	9399	broad.mit.edu	37	chr15	74281464	74281464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttgcagggagggacGttgaaggctcgtgtcctcag	7	9	14	11	2	2	1	2	1	0	0	4	3	3	3	2	3	1	3	2	3	1	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr15:74281464G>T	ENST00000316900.5	-	3	499	c.375C>A	c.(373-375)aaC>aaA	p.N125K	STOML1_ENST00000359750.4_Missense_Mutation_p.N125K|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000541638.1_Missense_Mutation_p.N83K|STOML1_ENST00000316911.6_Intron|STOML1_ENST00000561656.1_Missense_Mutation_p.N38K	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	125						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGGGAGGGACGTTGAAGGCTC	0.612													18	69					1.64113e-05	1.73767e-05	1	0	T	74281464	G	T	74281464	3	4	458	1	0	0	0	0	1	0	0	0	15403	1136	40	3	841	3	STOML1	15	74281464	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	46052914	74281464	28249928	61	89079											
CACNA1H	8912	broad.mit.edu	37	chr16	1257353	1257353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccgccctctacttcGtggccctcatgaccttcggc	3	10	10	18	3	2	1	1	1	1	0	4	1	2	1	5	3	1	0	5	3	1	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:1257353G>A	ENST00000348261.5	+	14	3234	c.2986G>A	c.(2986-2988)Gtg>Atg	p.V996M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V996M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V996M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	996					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTCTACTTCGTGGCCCTCAT	0.647													4	22					0	0	0	0	A	1257353	G	A	1257353	3	1	458	1	0	0	0	0	1	0	0	0	2570	1145	40	1	3036	1	CACNA1H	16	1257353	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08		1257353	89097400	62	89080											
IFT140	9742	broad.mit.edu	37	chr16	1608001	1608001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgacaaagaagctgaaGtggagcatggcgtcccgggt	11	7	16	7	2	0	3	0	2	0	1	1	4	1	4	1	4	2	2	1	4	3	0			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:1608001G>A	ENST00000426508.2	-	19	2697	c.2334C>T	c.(2332-2334)caC>caT	p.H778H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	778										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGAAGCTGAAGTGGAGCATGG	0.567													35	153					0	0	0	0	A	1608001	G	A	1608001	2	1	458	1	0	0	0	0	0	0	0	1	7609	1020	36	4		4	IFT140	16	1608001	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	350648	1608001	88746752	63	89081											
ANKS3	124401	broad.mit.edu	37	chr16	4764124	4764124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgatcttcatgtgtcCgtactgcttggccagcatcc	6	11	10	14	2	2	0	1	0	1	0	4	1	4	0	4	2	3	3	4	2	1	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:4764124C>T	ENST00000304283.4	-	7	931	c.637G>A	c.(637-639)Gga>Aga	p.G213R	ANKS3_ENST00000446014.2_Missense_Mutation_p.G84R|ANKS3_ENST00000450067.2_Missense_Mutation_p.G7R|ANKS3_ENST00000585773.1_Missense_Mutation_p.G140R	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	213										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTCATGTGTCCGTACTGCTTG	0.622													6	137					0	0	0	0	T	4764124	C	T	4764124	3	4	458	1	0	0	0	0	1	0	0	0	689	661	23	1	1377	1	ANKS3	16	4764124	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	3156123	4764124	85590629	64	89082											
KCTD19	146212	broad.mit.edu	37	chr16	67333330	67333330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccgtctagcgtgctctCgatgcgaagctggcccagcg	5	9	13	14	5	2	0	0	0	2	0	4	2	3	0	2	1	5	3	2	1	2	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:67333330C>T	ENST00000304372.5	-	6	977	c.922G>A	c.(922-924)Gag>Aag	p.E308K	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	308						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGCGTGCTCTCGATGCGAAGC	0.607													26	123					0	0	0	0	T	67333330	C	T	67333330	3	4	458	1	0	0	0	0	1	0	0	0	8159	893	31	1	1902	1	KCTD19	16	67333330	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	62569206	67333330	23021423	65	89083											
ANKRD11	29123	broad.mit.edu	37	chr16	89351758	89351758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggacgctttctttggtgCaatcgtgttatttttagtgt	6	19	11	5	2	1	0	0	0	1	0	2	1	1	1	0	2	1	3	0	2	3	6			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:89351758C>T	ENST00000301030.4	-	9	1652	c.1192G>A	c.(1192-1194)Gca>Aca	p.A398T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A398T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	398						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTTGGTGCAATCGTGTTA	0.453													17	92					0	0	0	0	T	89351758	C	T	89351758	3	4	458	1	0	0	0	0	1	0	0	0	639	710	25	4	6819	4	ANKRD11	16	89351758	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	22018428	89351758	1002995	66	89084											
TP53	7157	broad.mit.edu	37	chr17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttccactcggataagatGctgaggaggggccagaccta	10	8	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	2	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:7578272G>A	ENST00000420246.2	-	6	709	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)		CGGATAAGATGCTGAGGAGGG	0.557		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)			33	34					0	0	0	0	A	7578272	G	A	7578272	3	1	458	1	0	0	0	0	1	0	0	0	16476	1319	46	4	717	4	TP53	17	7578272	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08		7578272	73616938	67	89085											
PEX12	5193	broad.mit.edu	37	chr17	33904241	33904241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcccaggccatgttcaCaaatgggtaggctgccagga	9	9	11	12	0	1	0	1	0	0	0	3	1	3	1	4	4	1	3	4	4	2	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:33904241C>A	ENST00000225873.4	-	2	1103	c.496G>T	c.(496-498)Gtg>Ttg	p.V166L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	166					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCATGTTCACAAATGGGTAG	0.483													34	31					8.53417e-09	9.31001e-09	1	0	A	33904241	C	A	33904241	3	1	458	1	0	0	0	0	1	0	0	0	11812	478	17	4	591	4	PEX12	17	33904241	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	26325969	33904241	47290969	68	89086											
TNS4	84951	broad.mit.edu	37	chr17	38645178	38645178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtgctgggggccatcGtggcaccttgatctggcgga	6	8	17	10	2	1	1	0	1	1	0	2	3	1	2	2	5	2	3	2	5	0	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:38645178G>A	ENST00000254051.6	-	3	641	c.483C>T	c.(481-483)caC>caT	p.H161H		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	161					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGGGCCATCGTGGCACCTTG	0.592													46	52					0	0	0	0	A	38645178	G	A	38645178	2	1	458	1	0	0	0	0	0	0	0	1	16439	1136	40	1		1	TNS4	17	38645178	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	4740937	38645178	42550032	69	89087											
KRT14	3861	broad.mit.edu	37	chr17	39742589	39742589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtcctcaatggtcttGaagtagggactgtagtcttt	8	14	11	8	0	4	1	2	1	2	0	5	2	5	2	1	3	0	2	1	3	4	4			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:39742589G>T	ENST00000167586.6	-	1	584	c.498C>A	c.(496-498)ttC>ttA	p.F166L		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	166	Linker 1.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CAATGGTCTTGAAGTAGGGAC	0.572													15	168					3.27435e-08	3.5363e-08	1	0	T	39742589	G	T	39742589	3	4	458	1	0	0	0	0	1	0	0	0	8503	1281	45	2	952	2	KRT14	17	39742589	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	1097411	39742589	41452621	70	89088											
KCNH4	23415	broad.mit.edu	37	chr17	40321521	40321521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcgatgccgctgttgaCggcccacgtggtctggaagt	5	9	16	11	5	1	1	0	1	1	0	2	3	1	2	2	4	1	2	2	4	1	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:40321521C>T	ENST00000264661.3	-	9	1896	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	KCNH4_ENST00000607371.1_Missense_Mutation_p.V522I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	522					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	p.V522I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGCTGTTGACGGCCCACGTG	0.652													13	68					0	0	0	0	T	40321521	C	T	40321521	3	4	458	1	0	0	0	0	1	0	0	0	8087	536	19	1	1521	1	KCNH4	17	40321521	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	578932	40321521	40873689	71	89089											
CA10	56934	broad.mit.edu	37	chr17	49710999	49710999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttctggctgagcaggcGcaaggaatgcatctgaggag	9	8	16	8	1	2	2	0	2	2	0	2	4	2	4	0	5	2	5	0	5	2	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:49710999G>A	ENST00000451037.2	-	8	1742	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA10_ENST00000285273.4_Missense_Mutation_p.R268C|CA10_ENST00000570565.1_Missense_Mutation_p.R193C|CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	268					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTGAGCAGGCGCAAGGAATGC	0.512													29	33					0	0	0	0	A	49710999	G	A	49710999	3	1	458	1	0	0	0	0	1	0	0	0	2536	1087	38	1	192	1	CA10	17	49710999	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	9389478	49710999	31484211	72	89090											
PRKCA	5578	broad.mit.edu	37	chr17	64684445	64684445	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaccttcagacaaagacCgacgactgtctgtagaaatc	15	8	8	10	2	2	4	1	1	1	3	3	6	2	4	2	0	1	1	2	0	4	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:64684445C>T	ENST00000413366.3	+	7	738	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	238	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AGACAAAGACCGACGACTGTC	0.448													7	66					0	0	0	0	T	64684445	C	T	64684445	4	4	458	1	0	0	0	0	0	1	0	0	12587	644	23	1	738	1	PRKCA	17	64684445	Nonsense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	14973446	64684445	16510765	73	89091											
DNAI2	64446	broad.mit.edu	37	chr17	72308160	72308160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtttgagcgtgagaccCggcgagagaagatcctggag	11	7	16	7	3	0	5	0	2	0	4	1	9	1	6	2	2	1	1	2	2	1	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:72308160C>T	ENST00000579490.1	+	11	1819	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	DNAI2_ENST00000582036.1_Missense_Mutation_p.R493W|DNAI2_ENST00000311014.6_Missense_Mutation_p.R505W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R362W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R505W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	505					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCGTGAGACCCGGCGAGAGAA	0.657									Kartagener syndrome				8	50					0	0	0	0	T	72308160	C	T	72308160	3	4	458	1	0	0	0	0	1	0	0	0	4646	643	23	1	1555	1	DNAI2	17	72308160	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	7623715	72308160	8887050	74	89092											
CABYR	26256	broad.mit.edu	37	chr18	21735867	21735867	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaggcactgagcaaacGgaagcagttggtggtctttc	9	9	14	9	1	1	1	0	1	1	0	2	2	1	2	1	4	4	4	1	4	2	2	rs144981165		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr18:21735867G>C	ENST00000399481.2	+	2	260	c.108G>C	c.(106-108)acG>acC	p.T36T	CABYR_ENST00000581397.1_Silent_p.T134T|CABYR_ENST00000399496.3_Silent_p.T134T|CABYR_ENST00000399499.1_Silent_p.T134T|CABYR_ENST00000415309.2_Silent_p.T134T|CABYR_ENST00000327201.6_Silent_p.T36T			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	134	RIIa.				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTGAGCAAACGGAAGCAGTTG	0.493													19	82					0	0	0	0	C	21735867	G	C	21735867	2	2	458	1	0	0	0	0	0	0	0	1	2561	1103	39	3		3	CABYR	18	21735867	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08		21735867	56341381	75	89093											
THOP1	7064	broad.mit.edu	37	chr19	2805086	2805086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgaaggtcaccctcaagtAcccccattacttccccctcc	8	10	5	18	0	2	1	2	1	0	0	4	1	4	1	6	1	2	2	6	1	4	4			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:2805086A>G	ENST00000307741.6	+	6	865	c.662A>G	c.(661-663)tAc>tGc	p.Y221C	THOP1_ENST00000586677.1_Missense_Mutation_p.Y100C	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	221					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		ACCCTCAAGTACCCCCATTAC	0.577													7	39					0	0	0	0	G	2805086	A	G	2805086	3	3	458	1	0	0	0	0	1	0	0	0	15965	391	14	5	684	5	THOP1	19	2805086	Missense_Mutation	SNP	A	TCGA-P3-A5QA-01A-11D-A28R-08		2805086	56323897	76	89094											
PNPLA6	10908	broad.mit.edu	37	chr19	7615195	7615195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcaggatcatgcgcgCacagcccagtgtggtgctga	7	9	13	12	2	1	1	1	1	0	0	2	2	2	2	2	2	4	3	2	2	0	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:7615195C>T	ENST00000221249.6	+	18	2140	c.1709C>T	c.(1708-1710)gCa>gTa	p.A570V	PNPLA6_ENST00000414982.3_Missense_Mutation_p.A618V|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.A544V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A570V|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A609V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	609					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCATGCGCGCACAGCCCAGT	0.632													51	143					0	0	0	0	T	7615195	C	T	7615195	3	4	458	1	0	0	0	0	1	0	0	0	12241	710	25	4	1915	4	PNPLA6	19	7615195	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	4810109	7615195	51513788	77	89095											
OR7A5	26659	broad.mit.edu	37	chr19	14938849	14938849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtaacacaaatgtcagCaaaggacaggttggagagga	17	5	14	5	0	1	1	1	0	0	1	1	5	1	4	0	5	2	3	0	5	4	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:14938849C>A	ENST00000322301.3	-	2	292	c.205G>T	c.(205-207)Gct>Tct	p.A69S	OR7A5_ENST00000594432.1_Missense_Mutation_p.A69S|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CAAATGTCAGCAAAGGACAGG	0.498													6	173					0.00307968	0.00313779	1	0	A	14938849	C	A	14938849	3	1	458	1	0	0	0	0	1	0	0	0	11287	710	25	4	758	4	OR7A5	19	14938849	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	7323654	14938849	44190134	78	89096											
PNMAL1	55228	broad.mit.edu	37	chr19	46973756	46973756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatctcctcgaattcagcGgcctcctgggccctggcttc	4	10	10	17	2	2	0	1	0	1	0	6	1	3	0	5	3	1	1	5	3	1	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:46973756G>A	ENST00000313683.10	-	2	842	c.537C>T	c.(535-537)gcC>gcT	p.A179A	PNMAL1_ENST00000438932.2_Silent_p.A179A|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	179										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CGAATTCAGCGGCCTCCTGGG	0.612													29	165					0	0	0	0	A	46973756	G	A	46973756	2	1	458	1	0	0	0	0	0	0	0	1	12229	1103	39	1		1	PNMAL1	19	46973756	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	32034907	46973756	12155227	79	89097											
ZC3H4	23211	broad.mit.edu	37	chr19	47588398	47588398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacctcggcctcggcccCgacccattcctttccctcga	4	9	7	21	4	0	0	0	0	0	0	5	2	2	0	8	2	1	0	8	2	0	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:47588398C>T	ENST00000253048.5	-	8	1059	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	341	Gly-rich.						nucleic acid binding|zinc ion binding	p.R341L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCTCGGCCCCGACCCATTCC	0.627													46	205					0	0	0	0	T	47588398	C	T	47588398	3	4	458	1	0	0	0	0	1	0	0	0	17665	652	23	1	2921	1	ZC3H4	19	47588398	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	614642	47588398	11540585	80	89098											
DKKL1	27120	broad.mit.edu	37	chr19	49867984	49867984	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaggcctccagagcctactCcaaggcttcagccgactttt	9	9	8	15	1	1	1	1	0	0	1	3	2	3	1	5	2	3	1	5	2	2	4	rs141910577	by1000genomes	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:49867984C>G	ENST00000221498.2	+	2	561	c.156C>G	c.(154-156)ctC>ctG	p.L52L	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	52					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		AGAGCCTACTCCAAGGCTTCA	0.572													12	117					0	0	0	0	G	49867984	C	G	49867984	2	3	458	1	0	0	0	0	0	0	0	1	4585	842	30	2		2	DKKL1	19	49867984	Silent	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	2279586	49867984	9260999	81	89099											
TMC4	147798	broad.mit.edu	37	chr19	54672356	54672356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcacgttaagaaggaGcaggaagcgcagcagggaga	14	2	17	8	2	0	2	0	0	0	2	0	5	0	4	1	4	4	5	1	4	3	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:54672356G>A	ENST00000376591.4	-	4	642	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.L165F	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	171						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTAAGAAGGAGCAGGAAGCGC	0.672											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	0	0	A	54672356	G	A	54672356	3	1	458	1	0	0	0	0	1	0	0	0	16081	971	34	4	1675	4	TMC4	19	54672356	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	4804372	54672356	4456627	82	89100											
NLRP13	126204	broad.mit.edu	37	chr19	56443608	56443608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctgatactgatccaGggccatcaggtaaggcagaa	12	7	11	11	0	1	3	1	2	0	1	3	3	3	3	3	3	2	3	3	3	3	2	rs142099336		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:56443608G>C	ENST00000588751.1	-	1	94	c.70C>G	c.(70-72)Ctg>Gtg	p.L24V	NLRP13_ENST00000342929.3_Missense_Mutation_p.L24V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	24	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TACTGATCCAGGGCCATCAGG	0.552													14	99					0	0	0	0	C	56443608	G	C	56443608	3	2	458	1	0	0	0	0	1	0	0	0	10545	991	35	4	3103	4	NLRP13	19	56443608	Missense_Mutation	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	1771252	56443608	2685375	83	89101											
ZNF470	388566	broad.mit.edu	37	chr19	57089268	57089268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgtgggaaagctttcCggcagagcacgcatctggct	11	8	13	9	2	1	2	0	0	1	2	2	3	2	3	1	3	2	5	1	3	3	1	rs143920172	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:57089268C>T	ENST00000330619.8	+	6	2157	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R491W	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R491W(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAAAGCTTTCCGGCAGAGCAC	0.453													34	68					0	0	0	0	T	57089268	C	T	57089268	3	4	458	1	0	0	0	0	1	0	0	0	18024	643	23	1	1485	1	ZNF470	19	57089268	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	645660	57089268	2039715	84	89102											
ZNF497	162968	broad.mit.edu	37	chr19	58868531	58868531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcgtagggcttctcgccGctgtggatgcgctggtgctg	4	10	16	11	4	1	0	0	0	1	0	2	1	1	1	1	3	3	5	1	3	2	2			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:58868531G>A	ENST00000311044.3	-	3	659	c.471C>T	c.(469-471)agC>agT	p.S157S	CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Silent_p.S157S	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCTTCTCGCCGCTGTGGATGC	0.672													5	61					0	0	0	0	A	58868531	G	A	58868531	2	1	458	1	0	0	0	0	0	0	0	1	18041	1078	38	1		1	ZNF497	19	58868531	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08	1779263	58868531	260452	85	89103											
PCSK2	5126	broad.mit.edu	37	chr20	17446004	17446004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcgggacatgcagcatctGactgtgctcacctccaaacg	9	8	11	13	2	2	1	1	1	1	0	3	2	3	2	2	2	4	3	2	2	1	0			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr20:17446004G>A	ENST00000262545.2	+	11	1551	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	PCSK2_ENST00000536609.1_Silent_p.L377L|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.L393L	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	412	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCAGCATCTGACTGTGCTCA	0.592													6	94					0	0	0	0	A	17446004	G	A	17446004	2	1	458	1	0	0	0	0	0	0	0	1	11672	1277	45	2		2	PCSK2	20	17446004	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08		17446004	45579516	86	89104											
RTDR1	27156	broad.mit.edu	37	chr22	23401715	23401715	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggccacttgaggcttttcGtaagtctccacctccatggc	6	12	9	14	2	1	1	0	1	1	0	5	1	2	1	4	3	0	2	4	3	1	4	rs149525500		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr22:23401715G>A	ENST00000216036.4	-	7	1168	c.972C>T	c.(970-972)taC>taT	p.Y324Y		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	324							binding	p.Y324Y(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GAGGCTTTTCGTAAGTCTCCA	0.607													97	117					0	0	0	0	A	23401715	G	A	23401715	2	1	458	1	0	0	0	0	0	0	0	1	13804	1140	40	1		1	RTDR1	22	23401715	Silent	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08		23401715	27902851	87	89105											
TEF	7008	broad.mit.edu	37	chr22	41791810	41791810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctaaacggtcacgggatgCccggcgcctgaaagagaatc	12	5	13	11	4	1	2	1	1	0	1	2	4	1	3	2	3	3	1	2	3	4	1			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr22:41791810C>T	ENST00000266304.4	+	4	874	c.758C>T	c.(757-759)gCc>gTc	p.A253V	TEF_ENST00000406644.3_Missense_Mutation_p.A223V	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	253					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TCACGGGATGCCCGGCGCCTG	0.582													4	117					0	0	0	0	T	41791810	C	T	41791810	3	4	458	1	0	0	0	0	1	0	0	0	15844	739	26	4	843	4	TEF	22	41791810	Missense_Mutation	SNP	C	TCGA-P3-A5QA-01A-11D-A28R-08	18390095	41791810	9512756	88	89106											
SLC25A43	203427	broad.mit.edu	37	chrX	118586106	118586106	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagccaatttactgaaGgtgagaagagccaccagcct	13	8	10	10	0	0	4	0	3	0	2	0	5	0	4	4	1	4	0	4	1	4	3			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chrX:118586106G>A	ENST00000217909.7	+	4	1169	c.825_splice	c.e4+1	p.K275_splice	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Splice_Site_p.D218_splice	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	275					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						ATTTACTGAAGGTGAGAAGAG	0.547													8	84					0	0	0	0	A	118586106	G	A	118586106	5	1	458	1	0	0	0	0	0	0	1	0	14596	1014	35	4	839	4	SLC25A43	23	118586106	Splice_Site	SNP	G	TCGA-P3-A5QA-01A-11D-A28R-08		118586106	36684454	89	89107											
MAD2L2	10459	broad.mit.edu	37	chr1	11734849	11734849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagctgcctttatgagCgcgctcttccacgtaaagct	7	11	8	15	3	2	1	1	1	1	0	3	1	3	1	3	0	4	4	3	0	3	4			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:11734849C>T	ENST00000235310.3	-	11	1547	c.619G>A	c.(619-621)Gct>Act	p.A207T	MAD2L2_ENST00000376667.3_Missense_Mutation_p.A207T|MAD2L2_ENST00000376669.5_Missense_Mutation_p.A220T|MAD2L2_ENST00000376672.1_Missense_Mutation_p.A220T|MAD2L2_ENST00000376692.4_Missense_Mutation_p.A207T			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	207	Mediates interaction with ipaB.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTATGAGCGCGCTCTTCC	0.612								DNA polymerases (catalytic subunits)					6	147					0	0	0	0	T	11734849	C	T	11734849	3	4	459	1	0	0	0	0	1	0	0	0	9215	768	27	1	20	1	MAD2L2	1	11734849	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08		11734849	237515772	1	89108											
COL9A2	1298	broad.mit.edu	37	chr1	40775613	40775613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgaggactcacctcGtcacccttctccccagctcg	5	9	9	18	2	3	1	2	1	1	0	6	2	3	2	5	2	2	1	5	2	0	1	rs140305893		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:40775613G>A	ENST00000372748.3	-	16	939	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	281	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX		p.D281D(2)|p.D281E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GACTCACCTCGTCACCCTTCT	0.612													5	180					0	0	0	0	A	40775613	G	A	40775613	2	1	459	1	0	0	0	0	0	0	0	1	3738	1136	40	1		1	COL9A2	1	40775613	Silent	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	29040764	40775613	208475008	2	89109											
JAK1	3716	broad.mit.edu	37	chr1	65332658	65332658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcatctcattttctgatGaaatcagtaacatggaagtc	14	14	6	7	0	4	2	3	2	2	0	6	3	4	3	0	1	1	1	0	1	4	4	rs66939581		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:65332658G>A	ENST00000342505.4	-	7	1129	c.881C>T	c.(880-882)tCa>tTa	p.S294L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	294	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ATTTTCTGATGAAATCAGTAA	0.418			Mis		ALL								45	89					0	0	0	0	A	65332658	G	A	65332658	3	1	459	1	0	0	0	0	1	0	0	0	7990	1294	45	2	2659	2	JAK1	1	65332658	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	24557045	65332658	183917963	3	89110											
TBX15	6913	broad.mit.edu	37	chr1	119427568	119427568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggcgctcagtttttcCgggcttgcagctagcctagg	6	11	14	10	2	1	1	1	1	0	1	2	2	2	1	2	3	3	5	2	3	2	5			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:119427568C>T	ENST00000369429.3	-	8	1605	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	TBX15_ENST00000207157.3_Silent_p.P426P			Q96SF7	TBX15_HUMAN	T-box 15	532						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)		TCAGTTTTTCCGGGCTTGCAG	0.537													17	28					0	0	0	0	T	119427568	C	T	119427568	2	4	459	1	0	0	0	0	0	0	0	1	15746	639	23	1		1	TBX15	1	119427568	Silent	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	54094910	119427568	129823053	4	89111											
GJA5	2702	broad.mit.edu	37	chr1	147230622	147230622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttagccatgtgctgcCgcggtttgacaaatcgctgt	7	11	12	11	3	0	1	0	1	0	0	1	1	0	1	2	2	3	4	2	2	2	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:147230622C>T	ENST00000271348.2	-	2	886	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	GJA5_ENST00000369237.1_Missense_Mutation_p.R242Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	242					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R242Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGTGCTGCCGCGGTTTGAC	0.572													24	48					0	0	0	0	T	147230622	C	T	147230622	3	4	459	1	0	0	0	0	1	0	0	0	6455	652	23	1	355	1	GJA5	1	147230622	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	27803054	147230622	102019999	5	89112											
TDRD5	163589	broad.mit.edu	37	chr1	179561885	179561885	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttggcaaccatctaccactCcgaatccttgggtatcggtc	8	11	9	13	2	1	0	0	0	1	0	5	1	3	0	4	3	2	3	4	3	4	4			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:179561885C>G	ENST00000444136.1	+	2	385	c.135C>G	c.(133-135)ctC>ctG	p.L45L	TDRD5_ENST00000367614.1_Silent_p.L45L|TDRD5_ENST00000294848.8_Silent_p.L45L	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	45	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCTACCACTCCGAATCCTTG	0.488													25	85					0	0	0	0	G	179561885	C	G	179561885	2	3	459	1	0	0	0	0	0	0	0	1	15827	842	30	2		2	TDRD5	1	179561885	Silent	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	32331263	179561885	69688736	6	89113											
USP34	9736	broad.mit.edu	37	chr2	61430323	61430323	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagttgattgcaactcGgcataatagatggatgaact	13	12	9	7	1	1	3	1	2	0	1	2	4	1	4	0	2	3	3	0	2	4	5			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:61430323G>A	ENST00000398571.2	-	75	9536	c.9460C>T	c.(9460-9462)Cga>Tga	p.R3154*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3154					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTGCAACTCGGCATAATAGA	0.343													4	49					0	0	0	0	A	61430323	G	A	61430323	4	1	459	1	0	0	0	0	0	1	0	0	17161	1124	39	1	1204	1	USP34	2	61430323	Nonsense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		61430323	181769050	7	89114											
TTC31	64427	broad.mit.edu	37	chr2	74718497	74718497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagggacagtgtggtgaaGaagaggtgagagcccctttt	10	10	15	6	0	1	4	1	2	0	3	1	6	1	5	2	3	1	0	2	3	2	3			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:74718497G>C	ENST00000410003.1	+	7	688	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	TTC31_ENST00000233623.5_Missense_Mutation_p.E227Q|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.E83Q			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	227							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GTGTGGTGAAGAAGAGGTGAG	0.527													61	114					0	0	0	0	C	74718497	G	C	74718497	3	2	459	1	0	0	0	0	1	0	0	0	16796	943	33	2	705	2	TTC31	2	74718497	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	13288174	74718497	168480876	8	89115											
ANKMY1	51281	broad.mit.edu	37	chr2	241451335	241451335	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcctgcccccctcctcCgggagggctgtgtccgtgct	1	9	13	18	3	0	0	0	0	0	0	4	1	4	1	8	2	2	2	8	2	0	0			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:241451335C>T	ENST00000391987.1	-	11	2328	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	ANKMY1_ENST00000403283.1_Silent_p.P592P|ANKMY1_ENST00000401804.1_Silent_p.P743P|ANKMY1_ENST00000272972.3_Silent_p.P654P|ANKMY1_ENST00000373318.2_Silent_p.P513P|ANKMY1_ENST00000373320.4_Silent_p.P424P|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Silent_p.P415P			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	654							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCCCCTCCTCCGGGAGGGCTG	0.667													32	43					0	0	0	0	T	241451335	C	T	241451335	2	4	459	1	0	0	0	0	0	0	0	1	634	639	23	1		1	ANKMY1	2	241451335	Silent	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	166732838	241451335	1748038	9	89116											
EIF1B	10289	broad.mit.edu	37	chr3	40353003	40353003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattgaacatcctgaatacGgagaggttattcagcttcaa	13	12	9	7	1	2	4	2	3	0	1	3	5	3	4	1	2	3	2	1	2	5	5			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr3:40353003G>A	ENST00000232905.3	+	3	496	c.238G>A	c.(238-240)Gga>Aga	p.G80R		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	80					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TCCTGAATACGGAGAGGTTAT	0.368													30	60					0	0	0	0	A	40353003	G	A	40353003	3	1	459	1	0	0	0	0	1	0	0	0	5030	1117	39	1	248	1	EIF1B	3	40353003	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		40353003	157669427	10	89117											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005805	118005805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcccacagagatatgcCtttctggtacttttcatcac	10	13	7	11	0	3	1	2	0	1	1	3	2	3	1	2	2	2	1	2	2	3	5			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr4:118005805C>T	ENST00000310754.4	-	1	931	c.745G>A	c.(745-747)Ggc>Agc	p.G249S		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	249	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGATATGCCTTTCTGGTAC	0.413													17	44					0	0	0	0	T	118005805	C	T	118005805	3	4	459	1	0	0	0	0	1	0	0	0	16547	681	24	4	368	4	TRAM1L1	4	118005805	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08		118005805	73148471	11	89118											
TRIM23	373	broad.mit.edu	37	chr5	64905078	64905078	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaactacctacctgctgcaAagtcttttcacagtggaggc	11	11	8	11	0	2	0	1	0	1	0	2	1	2	1	2	2	5	2	2	2	5	5			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr5:64905078A>C	ENST00000231524.9	-	6	1407	c.1036T>G	c.(1036-1038)Ttg>Gtg	p.L346V	TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000381018.3_Missense_Mutation_p.L346V|TRIM23_ENST00000274327.7_Missense_Mutation_p.L346V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	346					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACCTGCTGCAAAGTCTTTTCA	0.363													26	37					0	0	0	0	C	64905078	A	C	64905078	3	2	459	1	0	0	0	0	1	0	0	0	16592	11	1	5	779	5	TRIM23	5	64905078	Missense_Mutation	SNP	A	TCGA-P3-A5QE-01A-11D-A28R-08		64905078	116010182	12	89119											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719975	140719975	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacggcccatgacccCgacagcaacgacaatgctca	12	5	9	15	3	2	2	2	2	0	0	2	4	2	2	3	1	3	2	3	1	2	0	rs141955016	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr5:140719975C>T	ENST00000394576.2	+	1	1437	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATGACCCCGACAGCAACG	0.547													40	110					0	0	0	0	T	140719975	C	T	140719975	2	4	459	1	0	0	0	0	0	0	0	1	11625	639	23	1		1	PCDHGA2	5	140719975	Silent	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	75814897	140719975	40195285	13	89120											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713600	32713600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacagtgttttccaagtttCctgtgacgctgggtcagccc	6	13	10	12	1	2	1	2	1	0	0	4	1	4	1	3	1	1	3	3	1	1	3			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:32713600C>A	ENST00000374940.3	+	3	466	c.364C>A	c.(364-366)Cct>Act	p.P122T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCAAGTTTCCTGTGACGCT	0.507													34	68					1.26612e-14	1.35404e-14	1	0	A	32713600	C	A	32713600	3	1	459	1	0	0	0	0	1	0	0	0	7255	855	30	2	374	2	HLA-DQA2	6	32713600	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08		32713600	138401467	14	89121											
CLN8	2055	broad.mit.edu	37	chr8	1719543	1719543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggtttcacatcaCgacagcaacgggattctttt	8	13	10	10	2	3	0	2	0	1	0	3	2	3	1	0	3	3	3	0	3	1	4	rs143701028		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr8:1719543C>T	ENST00000331222.4	+	2	570	c.323C>T	c.(322-324)aCg>aTg	p.T108M		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	108	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTTCACATCACGACAGCAACG	0.537													34	104					0	0	0	0	T	1719543	C	T	1719543	3	4	459	1	0	0	0	0	1	0	0	0	3576	536	19	1	325	1	CLN8	8	1719543	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08		1719543	144644479	15	89122											
SCRIB	23513	broad.mit.edu	37	chr8	144894993	144894993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacactaaccgatgcCgtcgggcagcctccgcagca	9	4	11	17	4	0	0	0	0	0	0	2	1	1	0	5	2	4	4	5	2	1	1			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr8:144894993C>T	ENST00000356994.2	-	8	787	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	SCRIB_ENST00000320476.3_Missense_Mutation_p.G261S|SCRIB_ENST00000377533.3_Missense_Mutation_p.G180S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	261	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TAACCGATGCCGTCGGGCAGC	0.692													4	92					0	0	0	0	T	144894993	C	T	144894993	3	4	459	1	0	0	0	0	1	0	0	0	14024	652	23	1	4306	1	SCRIB	8	144894993	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	143175450	144894993	1469029	16	89123											
AQP7	364	broad.mit.edu	37	chr9	33395107	33395107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctcatgaactcggccAggaactctcgcaccatcttc	9	10	8	14	2	3	1	1	1	2	0	6	2	3	2	2	2	3	2	2	2	2	1			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:33395107A>G	ENST00000539936.1	-	3	351	c.113T>C	c.(112-114)cTg>cCg	p.L38P	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	38			L -> V (in dbSNP:rs2381003).		excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAACTCGGCCAGGAACTCTCG	0.587													4	94					0	0	0	0	G	33395107	A	G	33395107	3	3	459	1	0	0	0	0	1	0	0	0	833	188	7	5	939	5	AQP7	9	33395107	Missense_Mutation	SNP	A	TCGA-P3-A5QE-01A-11D-A28R-08		33395107	107818324	17	89124											
CNTFR	1271	broad.mit.edu	37	chr9	34557637	34557637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatgtagcgaatgtggCagcggttcttgagggctggg	6	10	19	6	2	1	1	0	1	1	0	1	2	1	1	0	5	3	5	0	5	2	3			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:34557637C>A	ENST00000378980.3	-	6	784	c.491G>T	c.(490-492)tGc>tTc	p.C164F	CNTFR_ENST00000351266.4_Missense_Mutation_p.C164F	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	164	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCGAATGTGGCAGCGGTTCTT	0.532													30	56					8.58068e-18	9.30581e-18	1	0	A	34557637	C	A	34557637	3	1	459	1	0	0	0	0	1	0	0	0	3668	710	25	4	647	4	CNTFR	9	34557637	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	1162530	34557637	106655794	18	89125											
SECISBP2	79048	broad.mit.edu	37	chr9	91972401	91972401	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctttgtgtttgctctcaAccgcaaagctctggggcgca	6	12	10	13	2	2	0	1	0	2	0	4	0	3	0	2	2	3	5	2	2	2	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:91972401A>T	ENST00000375807.3	+	15	2260	c.2189A>T	c.(2188-2190)aAc>aTc	p.N730I	SECISBP2_ENST00000534113.2_Missense_Mutation_p.N662I|SECISBP2_ENST00000339901.4_Missense_Mutation_p.N657I	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	730					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTTGCTCTCAACCGCAAAGCT	0.502													91	184					0	0	0	0	T	91972401	A	T	91972401	3	4	459	1	0	0	0	0	1	0	0	0	14093	43	2	5	2247	5	SECISBP2	9	91972401	Missense_Mutation	SNP	A	TCGA-P3-A5QE-01A-11D-A28R-08	57414764	91972401	49241030	19	89126											
QSOX2	169714	broad.mit.edu	37	chr9	139100937	139100937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagggttcctccttcactGgaatccccctggtctgcgga	5	10	11	15	1	2	0	1	0	1	0	5	2	5	2	5	4	1	1	5	4	1	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:139100937G>A	ENST00000358701.5	-	12	1771	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	578					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTCCTTCACTGGAATCCCCCT	0.597													24	75					0	0	0	0	A	139100937	G	A	139100937	2	1	459	1	0	0	0	0	0	0	0	1	12966	1335	47	4		4	QSOX2	9	139100937	Silent	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	47128536	139100937	2112494	20	89127											
C9orf139	401563	broad.mit.edu	37	chr9	139929153	139929153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtcctgccacgcctgcggGtgacccggcctctggtgcca	3	8	13	17	3	1	1	0	1	1	0	2	1	2	1	6	3	3	0	6	3	0	0			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:139929153G>A	ENST00000314330.2	+	3	1734	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	74										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		ACGCCTGCGGGTGACCCGGCC	0.647													4	153					0	0	0	0	A	139929153	G	A	139929153	3	1	459	1	0	0	0	0	1	0	0	0	2484	1261	44	4	226	4	C9orf139	9	139929153	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	828216	139929153	1284278	21	89128											
PHYH	5264	broad.mit.edu	37	chr10	13341999	13341999	+	Frame_Shift_Del	DEL	C	C	-																															ccgaggggcggccgaggtggCccagaacaatctgcagacgg																										TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr10:13341999delC	ENST00000263038.4	-	1	102	c.44delG	c.(43-45)gcfs	p.G15fs	PHYH_ENST00000396920.3_Intron	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	15					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GCCGAGGTGGCCCAGAACAAT	0.756													2	4	---	---	---	---					-	13341999	C	-	13341999	7	5	459	1	0	1	0	1	0	0	0	0	11936	739	26	0	1008	0	PHYH	10	13341999	Frame_Shift_Del	DEL	C	TCGA-P3-A5QE-01A-11D-A28R-08		13341999	122192748	22	89129											
ARHGAP22	58504	broad.mit.edu	37	chr10	49658867	49658867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcttcccgatagggacctCggctgccggaaggaggactt	7	7	16	11	3	0	0	0	0	0	0	2	5	1	4	3	6	1	2	3	6	2	3			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr10:49658867C>T	ENST00000249601.4	-	9	1601	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	ARHGAP22_ENST00000374170.1_Silent_p.P276P|ARHGAP22_ENST00000435790.2_Silent_p.P441P|ARHGAP22_ENST00000477708.2_Silent_p.P268P|ARHGAP22_ENST00000374172.1_Silent_p.P326P|ARHGAP22_ENST00000417912.2_Silent_p.P451P|ARHGAP22_ENST00000417247.2_Silent_p.P345P	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	435	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATAGGGACCTCGGCTGCCGGA	0.682													8	5					0	0	0	0	T	49658867	C	T	49658867	2	4	459	1	0	0	0	0	0	0	0	1	874	871	31	1		1	ARHGAP22	10	49658867	Silent	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	36316868	49658867	85875880	23	89130											
OR51M1	390059	broad.mit.edu	37	chr11	5411307	5411307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggacctggtgctcatcGcactgtcctatggactcatc	6	12	10	13	1	2	0	2	0	0	0	5	2	3	2	2	3	2	3	2	3	1	1			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:5411307G>A	ENST00000328611.3	+	1	701	c.679G>A	c.(679-681)Gca>Aca	p.A227T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	227						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTCATCGCACTGTCCTA	0.542													34	51					0	0	0	0	A	5411307	G	A	5411307	3	1	459	1	0	0	0	0	1	0	0	0	11174	1087	38	1	681	1	OR51M1	11	5411307	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		5411307	129595209	24	89131											
FAM160A2	84067	broad.mit.edu	37	chr11	6233023	6233023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgaaggaccaattgtgCcgcctgccgggccctggttg	6	8	15	12	2	0	1	0	1	0	0	0	2	0	2	5	4	2	2	5	4	2	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:6233023C>T	ENST00000265978.4	-	12	3032	c.2674G>A	c.(2674-2676)Gca>Aca	p.A892T	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A878T	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	878					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.A892T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAATTGTGCCGCCTGCCGG	0.627													5	306					0	0	0	0	T	6233023	C	T	6233023	3	4	459	1	0	0	0	0	1	0	0	0	5510	739	26	4	290	4	FAM160A2	11	6233023	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	821716	6233023	128773493	25	89132											
SCN3B	55800	broad.mit.edu	37	chr11	123513292	123513292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagcacagtgatggacaCgtcctgcaggtccttgctgc	7	10	13	11	1	0	2	0	2	0	0	2	3	2	3	2	2	4	4	2	2	0	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:123513292C>T	ENST00000392770.2	-	3	1109	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	SCN3B_ENST00000530277.1_Missense_Mutation_p.V103M|SCN3B_ENST00000299333.3_Missense_Mutation_p.V103M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	103	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GTGATGGACACGTCCTGCAGG	0.567													35	98					0	0	0	0	T	123513292	C	T	123513292	3	4	459	1	0	0	0	0	1	0	0	0	14006	536	19	1	352	1	SCN3B	11	123513292	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	117280269	123513292	11493224	26	89133											
OR8B3	390271	broad.mit.edu	37	chr11	124266603	124266603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaatgaaaacataagaaatGaggatggtacaactgggtac	19	7	10	5	0	0	3	0	2	0	1	0	4	0	4	0	3	4	2	0	3	8	3			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:124266603G>A	ENST00000354597.3	-	1	661	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CATAAGAAATGAGGATGGTAC	0.428													47	92					0	0	0	0	A	124266603	G	A	124266603	2	1	459	1	0	0	0	0	0	0	0	1	11299	1277	45	2		2	OR8B3	11	124266603	Silent	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	753311	124266603	10739913	27	89134											
CACNA1C	775	broad.mit.edu	37	chr12	2690928	2690928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccggaggagcacattcGataacttcccccagtccctc	10	7	8	16	2	0	1	0	0	0	1	4	4	2	3	4	2	2	1	4	2	1	3			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr12:2690928G>T	ENST00000399655.1	+	14	2333	c.2068G>T	c.(2068-2070)Gat>Tat	p.D690Y	CACNA1C_ENST00000399629.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D690Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D715Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D690Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	690					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.D690H(3)|p.D720H(1)|p.D225H(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGCACATTCGATAACTTCCC	0.542													13	27					0.000219431	0.000228327	1	0	T	2690928	G	T	2690928	3	4	459	1	0	0	0	0	1	0	0	0	2565	1058	37	3	2230	3	CACNA1C	12	2690928	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		2690928	131160967	28	89135											
LTBR	4055	broad.mit.edu	37	chr12	6500033	6500033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaggcttggcacctagCggagacagagcactgtggtg	9	7	16	9	1	0	2	0	0	0	2	0	3	0	2	1	5	2	4	1	5	2	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr12:6500033C>T	ENST00000228918.4	+	10	1564	c.1238C>T	c.(1237-1239)gCg>gTg	p.A413V	LTBR_ENST00000539925.1_Missense_Mutation_p.A394V|LTBR_ENST00000541102.1_Missense_Mutation_p.A270V	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	413					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						TGGCACCTAGCGGAGACAGAG	0.597													83	182					0	0	0	0	T	6500033	C	T	6500033	3	4	459	1	0	0	0	0	1	0	0	0	9141	768	27	1	1276	1	LTBR	12	6500033	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	3809105	6500033	127351862	29	89136											
CCDC88C	440193	broad.mit.edu	37	chr14	91749741	91749741	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtagtggtggctgaagttGagcaagtccgggagcccagc	8	8	16	9	1	0	2	0	2	0	0	1	3	1	3	2	3	3	4	2	3	3	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr14:91749741G>C	ENST00000389857.6	-	26	4648	c.4562C>G	c.(4561-4563)tCa>tGa	p.S1521*	CCDC88C_ENST00000331194.7_Nonsense_Mutation_p.S45*	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1521					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCTGAAGTTGAGCAAGTCCG	0.652													10	23					0	0	0	0	C	91749741	G	C	91749741	4	2	459	1	0	0	0	0	0	1	0	0	2892	1294	45	2	1544	2	CCDC88C	14	91749741	Nonsense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		91749741	15599799	30	89137											
AHNAK2	113146	broad.mit.edu	37	chr14	105409427	105409427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcacatccttgtcggccaGggacaggtccccctccagct	7	8	10	16	1	1	0	1	0	0	0	5	1	4	1	5	3	1	1	5	3	0	1			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587													6	506					0	0	0	0	A	105409427	G	A	105409427	2	1	459	1	0	0	0	0	0	0	0	1	415	991	35	4		4	AHNAK2	14	105409427	Silent	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	13659686	105409427	1940113	31	89138											
AKAP13	11214	broad.mit.edu	37	chr15	86262331	86262331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagacagagtttcatcAtgtccgcactctcaagatca	12	10	8	11	1	4	3	4	0	1	3	6	4	5	3	1	0	1	3	1	0	1	1			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr15:86262331A>G	ENST00000394518.2	+	23	6121	c.6026A>G	c.(6025-6027)cAt>cGt	p.H2009R	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.H2013R|AKAP13_ENST00000394510.2_Missense_Mutation_p.H254R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2009	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGTTTCATCATGTCCGCACT	0.458													28	51					0	0	0	0	G	86262331	A	G	86262331	3	3	459	1	0	0	0	0	1	0	0	0	449	217	8	5	6182	5	AKAP13	15	86262331	Missense_Mutation	SNP	A	TCGA-P3-A5QE-01A-11D-A28R-08		86262331	16269061	32	89139											
MSLN	10232	broad.mit.edu	37	chr16	815293	815293	+	Frame_Shift_Del	DEL	C	C	-																															cggctctgcagggcgggggaCccccctacgggtaagtgaag																										TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:815293delC	ENST00000566549.1	+	8	1111	c.694delC	c.(694-696)ccfs	p.P233fs	MSLN_ENST00000382862.3_Frame_Shift_Del_p.P233fs|MSLN_ENST00000545450.2_Frame_Shift_Del_p.P233fs|MSLN_ENST00000563941.1_Frame_Shift_Del_p.P233fs			Q13421	MSLN_HUMAN	mesothelin	233					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGGCGGGGGACCCCCCTACGG	0.687													4	9	---	---	---	---					-	815293	C	-	815293	7	5	459	1	0	1	0	1	0	0	0	0	9951	507	18	0	720	0	MSLN	16	815293	Frame_Shift_Del	DEL	C	TCGA-P3-A5QE-01A-11D-A28R-08		815293	89539460	33	89140											
FAM57B	83723	broad.mit.edu	37	chr16	30036995	30036995	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaaccttgaaggtccctcCccttcctgtgacctccccat	7	10	6	18	0	0	2	0	2	0	0	4	2	4	2	8	1	2	1	8	1	2	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:30036995C>A	ENST00000564806.1	-	3	487	c.442G>T	c.(442-444)Gga>Tga	p.G148*	FAM57B_ENST00000380495.4_Intron|FAM57B_ENST00000279389.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AAGGTCCCTCCCCTTCCTGTG	0.612													4	190					1	1	1	0	A	30036995	C	A	30036995	4	1	459	1	0	0	0	0	0	1	0	0	5635	638	22	4		4	FAM57B	16	30036995	Nonsense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	29221702	30036995	60317758	34	89141											
CYLD	1540	broad.mit.edu	37	chr16	50811808	50811808	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgggtcttctgttgactCacaaccacaatccaaatcaa	15	10	5	11	0	4	1	2	1	2	0	5	1	5	1	2	1	1	1	2	1	5	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:50811808C>G	ENST00000540145.1	+	8	1509	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*	CYLD_ENST00000564326.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S365*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S362*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S365*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S362*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	365	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCTGTTGACTCACAACCACAA	0.318			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				18	18					0	0	0	0	G	50811808	C	G	50811808	4	3	459	1	0	0	0	0	0	1	0	0	4175	838	29	2	1116	2	CYLD	16	50811808	Nonsense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	20774813	50811808	39542945	35	89142											
DHX33	56919	broad.mit.edu	37	chr17	5357225	5357225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagatgccactgtcctctCtgccagccctccctgtgcgc	5	9	9	18	1	1	1	0	0	1	1	4	1	3	1	5	0	5	1	5	0	0	0			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:5357225C>T	ENST00000225296.3	-	7	1423	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	DHX33_ENST00000433302.3_Missense_Mutation_p.R184K	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	408	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGTCCTCTCTGCCAGCCCT	0.567													35	59					0	0	0	0	T	5357225	C	T	5357225	3	4	459	1	0	0	0	0	1	0	0	0	4543	913	32	2	924	2	DHX33	17	5357225	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08		5357225	75837985	36	89143											
IKZF3	22806	broad.mit.edu	37	chr17	37922495	37922495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggtggatgcttttcttttCcagctcttgaggggcaccgt	6	14	12	9	1	2	1	0	1	2	0	3	2	3	2	2	4	2	3	2	4	1	5	rs144257869		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:37922495C>T	ENST00000346872.3	-	8	1139	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	IKZF3_ENST00000377945.3_Missense_Mutation_p.E226K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E139K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E321K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E321K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E273K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E282K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E326K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E304K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E287K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E265K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E178K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E113K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E217K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	360					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTTTCTTTTCCAGCTCTTGA	0.562													43	79					0	0	0	0	T	37922495	C	T	37922495	3	4	459	1	0	0	0	0	1	0	0	0	7669	864	30	2	455	2	IKZF3	17	37922495	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	32565270	37922495	43272715	37	89144											
KRT26	353288	broad.mit.edu	37	chr17	38927945	38927948	+	Frame_Shift_Del	DEL	TGAC	TGAC	-																															ctgccttttaagatcttctaTgactgagaagtatctgctat																										TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:38927945_38927948delTGAC	ENST00000335552.4	-	1	466_469	c.418_421delGTCA	c.(418-423)tafs	p.VI140fs		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	140	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGATCTTCTATGACTGAGAAGTAT	0.417													23	74	---	---	---	---					-	38927948	TGAC	-	38927945	7	5	459	1	0	1	0	1	0	0	0	0	8515	1464	51	0	1017	0	KRT26	17	38927945	Frame_Shift_Del	DEL	TGAC	TCGA-P3-A5QE-01A-11D-A28R-08	1005450	38927945	42267265	38	89145											
KRT17	3872	broad.mit.edu	37	chr17	39780690	39780690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggcaggaggtgcgggaCgagccgccccccaggccgga	7	1	18	15	5	0	0	0	0	0	0	0	4	0	3	6	6	3	1	6	6	0	0			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:39780690C>T	ENST00000311208.8	-	1	139	c.72G>A	c.(70-72)tcG>tcA	p.S24S	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	24	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGTGCGGGACGAGCCGCCCC	0.716													12	14					0	0	0	0	T	39780690	C	T	39780690	2	4	459	1	0	0	0	0	0	0	0	1	8506	523	19	1		1	KRT17	17	39780690	Silent	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	852745	39780690	41414520	39	89146											
COL1A1	1277	broad.mit.edu	37	chr17	48268762	48268762	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgtcacccttaggcccTggaagaccagctgcaccacg	9	7	9	16	1	2	1	1	0	1	1	2	2	2	2	4	2	2	2	4	2	2	1			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:48268762T>C	ENST00000225964.5	-	32	2335	c.2217A>G	c.(2215-2217)ccA>ccG	p.P739P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	739	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCTTAGGCCCTGGAAGACCAG	0.592			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						4	164					0	0	0	0	C	48268762	T	C	48268762	2	2	459	1	0	0	0	0	0	0	0	1	3707	1567	55	5		5	COL1A1	17	48268762	Silent	SNP	T	TCGA-P3-A5QE-01A-11D-A28R-08	8488072	48268762	32926448	40	89147											
QRICH2	84074	broad.mit.edu	37	chr17	74274102	74274102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcccaggcactgggcGtgcagcagctcgcggattat	7	6	17	11	3	0	0	0	0	0	0	1	2	0	2	1	5	4	4	1	5	1	1			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:74274102G>A	ENST00000262765.5	-	15	4766	c.4587C>T	c.(4585-4587)caC>caT	p.H1529H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1529							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGCACTGGGCGTGCAGCAGCT	0.622													32	62					0	0	0	0	A	74274102	G	A	74274102	2	1	459	1	0	0	0	0	0	0	0	1	12962	1136	40	1		1	QRICH2	17	74274102	Silent	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	26005340	74274102	6921108	41	89148											
EMILIN2	84034	broad.mit.edu	37	chr18	2892200	2892200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcttgtaaggaatgcaCgcagggggtccagagggagg	10	6	19	6	1	0	1	0	0	0	1	1	4	1	4	1	6	2	4	1	6	2	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr18:2892200C>T	ENST00000254528.3	+	4	2234	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGGAATGCACGCAGGGGGTC	0.577													45	105					0	0	0	0	T	2892200	C	T	2892200	3	4	459	1	0	0	0	0	1	0	0	0	5132	536	19	1	2089	1	EMILIN2	18	2892200	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08		2892200	75185048	42	89149											
EHD2	30846	broad.mit.edu	37	chr19	48244640	48244640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccgccaacctgccccGtcgcctggtgccaccctcca	4	6	9	22	3	0	0	0	0	0	0	2	0	1	0	9	1	4	1	9	1	1	0			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:48244640G>A	ENST00000263277.3	+	6	1834	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	EHD2_ENST00000538399.1_Missense_Mutation_p.R392H|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	528	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AACCTGCCCCGTCGCCTGGTG	0.711													11	12					0	0	0	0	A	48244640	G	A	48244640	3	1	459	1	0	0	0	0	1	0	0	0	5014	1145	40	1	1601	1	EHD2	19	48244640	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		48244640	10884343	43	89150											
TEAD2	8463	broad.mit.edu	37	chr19	49863257	49863257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctcactgccgccggtacCctcctcactgccttcctcac	4	9	5	23	2	3	0	3	0	0	0	5	0	5	0	8	1	3	1	8	1	1	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:49863257C>A	ENST00000377214.4	-	1	438	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C	TEAD2_ENST00000311227.2_Missense_Mutation_p.G26C|TEAD2_ENST00000539846.1_Intron|TEAD2_ENST00000598810.1_Missense_Mutation_p.G26C|TEAD2_ENST00000593945.1_Missense_Mutation_p.G26C|TEAD2_ENST00000601519.1_Missense_Mutation_p.G26C			Q15562	TEAD2_HUMAN	TEA domain family member 2	26					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCGCCGGTACCCTCCTCACTG	0.697													35	90					2.75727e-19	3.033e-19	1	0	A	49863257	C	A	49863257	3	1	459	1	0	0	0	0	1	0	0	0	15833	623	22	4	1311	4	TEAD2	19	49863257	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	1618617	49863257	9265726	44	89151											
ZNF615	284370	broad.mit.edu	37	chr19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaaggatagacaagtgcGcaaaagctttcccacaatca	17	7	7	10	1	1	1	1	0	0	1	2	2	2	2	1	1	3	2	1	1	7	3			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438													4	154					0	0	0	0	A	52496176	G	A	52496176	3	1	459	1	0	0	0	0	1	0	0	0	18135	1087	38	1	46	1	ZNF615	19	52496176	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	2632919	52496176	6632807	45	89152											
CDC25B	994	broad.mit.edu	37	chr20	3782599	3782599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtacagcaagtgccagcGgctcttccgctctccgtcca	7	9	9	16	3	2	0	0	0	2	0	5	0	4	0	4	1	4	4	4	1	2	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:3782599G>A	ENST00000245960.5	+	10	1647	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.R303Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R226Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.R276Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R253Q	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	317					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AAGTGCCAGCGGCTCTTCCGC	0.642													10	20					0	0	0	0	A	3782599	G	A	3782599	3	1	459	1	0	0	0	0	1	0	0	0	3092	1116	39	1	988	1	CDC25B	20	3782599	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		3782599	59242921	46	89153											
PAX1	5075	broad.mit.edu	37	chr20	21687046	21687046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccgggtgttttctccccctCcggctcactcttgtctggcg	1	13	11	16	3	4	0	1	0	3	0	6	0	5	0	4	3	0	2	4	3	0	3	rs112306597		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:21687046C>T	ENST00000444366.2	+	1	186	c.185C>T	c.(184-186)tCc>tTc	p.S62F	PAX1_ENST00000398485.2_Intron|PAX1_ENST00000460221.1_Intron			P15863	PAX1_HUMAN	paired box 1	85					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TTCTCCCCCTCCGGCTCACTC	0.662													24	67					0	0	0	0	T	21687046	C	T	21687046	3	4	459	1	0	0	0	0	1	0	0	0	11549	870	30	2		2	PAX1	20	21687046	Missense_Mutation	SNP	C	TCGA-P3-A5QE-01A-11D-A28R-08	17904447	21687046	41338474	47	89154											
CBFA2T2	9139	broad.mit.edu	37	chr20	32199035	32199035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagccacttgtggtgctcGacaactcagcaagttgaaac	11	8	10	12	1	1	1	1	1	0	0	2	2	1	1	2	1	5	3	2	1	3	2			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:32199035G>A	ENST00000346541.3	+	4	878	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	CBFA2T2_ENST00000344201.3_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.R105Q|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R114Q|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R124Q	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGTGGTGCTCGACAACTCAGC	0.512													7	131					0	0	0	0	A	32199035	G	A	32199035	3	1	459	1	0	0	0	0	1	0	0	0	2722	1058	37	1	389	1	CBFA2T2	20	32199035	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	10511989	32199035	30826485	48	89155											
TFAP2C	7022	broad.mit.edu	37	chr20	55206371	55206371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccacactggagtcgccgaAtatcagccgccaccctactt	9	8	7	17	3	1	0	1	0	0	0	3	2	2	1	5	1	2	0	5	1	3	3			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:55206371A>T	ENST00000201031.2	+	2	402	c.159A>T	c.(157-159)gaA>gaT	p.E53D	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	53	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GAGTCGCCGAATATCAGCCGC	0.687													22	69					0	0	0	0	T	55206371	A	T	55206371	3	4	459	1	0	0	0	0	1	0	0	0	15883	98	4	5	165	5	TFAP2C	20	55206371	Missense_Mutation	SNP	A	TCGA-P3-A5QE-01A-11D-A28R-08	23007336	55206371	7819149	49	89156											
ARVCF	421	broad.mit.edu	37	chr22	19967759	19967759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcatctgctgtgtcctcGtaggccctgcacaggcaagt	7	10	10	14	1	2	0	1	0	1	0	4	0	3	0	3	2	2	4	3	2	2	1			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr22:19967759G>A	ENST00000263207.3	-	6	1194	c.903C>T	c.(901-903)taC>taT	p.Y301Y	ARVCF_ENST00000344269.3_Silent_p.Y238Y|ARVCF_ENST00000406522.1_Silent_p.Y238Y|ARVCF_ENST00000401994.1_Silent_p.Y238Y|ARVCF_ENST00000406259.1_Silent_p.Y301Y	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	301					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CTGTGTCCTCGTAGGCCCTGC	0.667													14	34					0	0	0	0	A	19967759	G	A	19967759	2	1	459	1	0	0	0	0	0	0	0	1	1007	1140	40	1		1	ARVCF	22	19967759	Silent	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		19967759	31336807	50	89157											
ENTHD1	150350	broad.mit.edu	37	chr22	40257895	40257895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttgtcttttagaaaacAatatagagtgggaggtacgc	14	11	11	5	1	1	2	0	0	1	2	1	3	1	3	0	2	2	2	0	2	8	6			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr22:40257895A>G	ENST00000325157.6	-	3	717	c.467T>C	c.(466-468)tTg>tCg	p.L156S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	156										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTTAGAAAACAATATAGAGTG	0.443													12	32					0	0	0	0	G	40257895	A	G	40257895	3	3	459	1	0	0	0	0	1	0	0	0	5175	131	5	5	1376	5	ENTHD1	22	40257895	Missense_Mutation	SNP	A	TCGA-P3-A5QE-01A-11D-A28R-08	20290136	40257895	11046671	51	89158											
PHKA2	5256	broad.mit.edu	37	chrX	18959756	18959756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcatcaatttctttaGatgtcgacgctcttggcagc	8	13	9	11	2	3	1	1	0	2	1	5	2	4	1	1	1	2	3	1	1	2	4			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chrX:18959756G>T	ENST00000379942.4	-	8	1420	c.755C>A	c.(754-756)tCt>tAt	p.S252Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	252					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AATTTCTTTAGATGTCGACGC	0.408													46	17					8.20599e-20	9.15741e-20	1	0	T	18959756	G	T	18959756	3	4	459	1	0	0	0	0	1	0	0	0	11916	942	33	2	3056	2	PHKA2	23	18959756	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08		18959756	136310804	52	89159											
GPR112	139378	broad.mit.edu	37	chrX	135405238	135405238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatggcatacaatatgcttGatatgggatggtgtgaaggg	12	11	14	4	0	0	2	0	2	0	0	0	3	0	3	0	4	2	2	0	4	6	4			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chrX:135405238G>C	ENST00000394143.1	+	5	663	c.372G>C	c.(370-372)ttG>ttC	p.L124F	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.L124F|GPR112_ENST00000287534.4_Missense_Mutation_p.L61F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	124					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAATATGCTTGATATGGGATG	0.438													65	91					0	0	0	0	C	135405238	G	C	135405238	3	2	459	1	0	0	0	0	1	0	0	0	6678	1281	45	2	378	2	GPR112	23	135405238	Missense_Mutation	SNP	G	TCGA-P3-A5QE-01A-11D-A28R-08	116445482	135405238	19865322	53	89160											
CAMTA1	23261	broad.mit.edu	37	chr1	7797459	7797459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgaaattagcagagtgtCtggagcacctgcagagagat	13	9	13	6	0	1	4	0	1	1	3	1	6	1	5	1	1	3	3	1	1	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:7797459C>T	ENST00000303635.7	+	15	3694	c.3487C>T	c.(3487-3489)Ctg>Ttg	p.L1163L	CAMTA1_ENST00000439411.2_Silent_p.L1163L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCAGAGTGTCTGGAGCACCT	0.577			T	WWTR1	epitheliod hemangioendothelioma								60	81					0	0	0	0	T	7797459	C	T	7797459	2	4	460	1	0	0	0	0	0	0	0	1	2638	912	32	2		2	CAMTA1	1	7797459	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		7797459	241453162	1	89161											
EPHA2	1969	broad.mit.edu	37	chr1	16475057	16475057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatcagagccggcgatggtCtcagggaagtgggccaggcc	8	5	17	11	2	2	1	2	0	1	1	3	3	2	2	3	5	1	1	3	5	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16475057C>G	ENST00000358432.5	-	3	793	c.639G>C	c.(637-639)gaG>gaC	p.E213D	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	213	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CGGCGATGGTCTCAGGGAAGT	0.652													9	125					0	0	0	0	G	16475057	C	G	16475057	3	3	460	1	0	0	0	0	1	0	0	0	5205	912	32	2	2351	2	EPHA2	1	16475057	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	8677598	16475057	232775564	2	89162											
EPHA2	1969	broad.mit.edu	37	chr1	16475433	16475433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatacgctcagcctctcctCggtacacccagttggtgcgg	7	9	11	14	3	2	1	1	0	1	1	4	1	2	1	3	3	4	3	3	3	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16475433C>T	ENST00000358432.5	-	3	417	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	88					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGCCTCTCCTCGGTACACCCA	0.532													6	123					0	0	0	0	T	16475433	C	T	16475433	3	4	460	1	0	0	0	0	1	0	0	0	5205	884	31	1	2727	1	EPHA2	1	16475433	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	376	16475433	232775188	3	89163											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532755	16532755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagacactcgctcagctcGgcagagcctaagaagtggcc	10	5	11	15	2	1	3	1	0	0	3	3	3	1	3	3	2	2	3	3	2	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16532755G>A	ENST00000270747.3	-	7	1354	c.1218C>T	c.(1216-1218)gcC>gcT	p.A406A	ARHGEF19_ENST00000421561.1_Silent_p.A406A|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	406	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCAGCTCGGCAGAGCCTA	0.612													4	13					0	0	0	0	A	16532755	G	A	16532755	2	1	460	1	0	0	0	0	0	0	0	1	904	1103	39	1		1	ARHGEF19	1	16532755	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	57322	16532755	232717866	4	89164											
CROCC	9696	broad.mit.edu	37	chr1	17266458	17266458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagcagcttagcgacagcGagagcgagcggcgggcccta	10	3	17	11	5	0	1	0	0	0	1	0	5	0	2	1	3	6	2	1	3	3	2	rs145642834	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:17266458G>A	ENST00000375541.5	+	13	1747	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	560					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TAGCGACAGCGAGAGCGAGCG	0.697													36	110					0	0	0	0	A	17266458	G	A	17266458	3	1	460	1	0	0	0	0	1	0	0	0	3923	1059	37	1	1728	1	CROCC	1	17266458	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	733703	17266458	231984163	5	89165											
CELA3A	10136	broad.mit.edu	37	chr1	22332233	22332233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgagcaggtgatccccatCaactctgaggagctgtttgt	8	10	11	12	1	2	2	1	2	1	0	3	4	3	3	3	2	3	3	3	2	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:22332233C>G	ENST00000290122.3	+	4	325	c.306C>G	c.(304-306)atC>atG	p.I102M	CELA3A_ENST00000374663.1_Missense_Mutation_p.I102M	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGATCCCCATCAACTCTGAGG	0.592											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	107					0	0	0	0	G	22332233	C	G	22332233	3	3	460	1	0	0	0	0	1	0	0	0	3242	816	29	2	320	2	CELA3A	1	22332233	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	5065775	22332233	226918388	6	89166											
CNR2	1269	broad.mit.edu	37	chr1	24201678	24201678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccttccacgggtgagcaGagctttgtaggaaggtggat	8	10	15	8	1	0	2	0	1	0	1	1	4	1	4	2	4	3	3	2	4	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:24201678G>A	ENST00000536471.1	-	3	688	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	CNR2_ENST00000374472.4_Silent_p.L144L			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	144					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CGGGTGAGCAGAGCTTTGTAG	0.592													12	151					0	0	0	0	A	24201678	G	A	24201678	2	1	460	1	0	0	0	0	0	0	0	1	3662	933	33	2		2	CNR2	1	24201678	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1869445	24201678	225048943	7	89167											
DHDDS	79947	broad.mit.edu	37	chr1	26769239	26769239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagactctgcggtggtgtttGaacctgggcatcctagaggt	7	11	14	9	1	1	3	0	1	1	2	2	3	2	3	2	4	2	2	2	4	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:26769239G>C	ENST00000360009.2	+	4	275	c.198G>C	c.(196-198)ttG>ttC	p.L66F	DHDDS_ENST00000526219.1_Missense_Mutation_p.L66F|DHDDS_ENST00000427245.2_Missense_Mutation_p.L66F|DHDDS_ENST00000236342.7_Missense_Mutation_p.L66F|DHDDS_ENST00000374185.3_Missense_Mutation_p.L66F|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000525682.2_Missense_Mutation_p.L66F	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	66							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGTGGTGTTTGAACCTGGGCA	0.512													17	179					0	0	0	0	C	26769239	G	C	26769239	3	2	460	1	0	0	0	0	1	0	0	0	4515	1281	45	2	208	2	DHDDS	1	26769239	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2567561	26769239	222481382	8	89168											
STX12	23673	broad.mit.edu	37	chr1	28138698	28138698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagtggaaccagatgcaGagccaggaggatgaggtggc	12	4	19	6	0	0	3	0	1	0	2	0	8	0	7	2	6	3	1	2	6	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:28138698G>A	ENST00000373943.4	+	6	620	c.495G>A	c.(493-495)caG>caA	p.Q165Q		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	165					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGATGCAGAGCCAGGAGG	0.493													3	5					0	0	0	0	A	28138698	G	A	28138698	2	1	460	1	0	0	0	0	0	0	0	1	15428	933	33	2		2	STX12	1	28138698	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1369459	28138698	221111923	9	89169											
GJB4	127534	broad.mit.edu	37	chr1	35227413	35227413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacggagaagaaggtcttCacctacttcatggtgaccac	11	8	9	13	1	3	3	2	1	1	2	3	4	3	3	3	3	1	0	3	3	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:35227413C>T	ENST00000339480.1	+	2	928	c.558C>T	c.(556-558)ttC>ttT	p.F186F	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	186					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGGTCTTCACCTACTTCA	0.577													19	46					0	0	0	0	T	35227413	C	T	35227413	2	4	460	1	0	0	0	0	0	0	0	1	6461	825	29	2		2	GJB4	1	35227413	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7088715	35227413	214023208	10	89170											
GNL2	29889	broad.mit.edu	37	chr1	38056446	38056446	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcttaatcacacgtgtgtttCctgttttacaaataaagaat	13	15	6	7	1	1	1	1	0	0	1	2	1	2	1	1	0	1	3	1	0	6	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:38056446C>G	ENST00000373062.3	-	4	343	c.244_splice	c.e4-1	p.G82_splice		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	82					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ACGTGTGTTTCCTGTTTTACA	0.363													3	51					0	0	0	0	G	38056446	C	G	38056446	5	3	460	1	0	0	0	0	0	0	1	0	6587	869	30	2	2002	2	GNL2	1	38056446	Splice_Site	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2829033	38056446	211194175	11	89171											
NDUFS5	4725	broad.mit.edu	37	chr1	39500167	39500167	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagggggagcctcggccctGaacagagcagctgctgatgt	9	6	15	11	1	0	3	0	2	0	1	1	4	0	4	2	3	5	3	2	3	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:39500167G>C	ENST00000372969.3	+	3	407	c.320G>C	c.(319-321)tGa>tCa	p.*107S	NDUFS5_ENST00000372967.3_Nonstop_Mutation_p.*107S	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	0					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	CCTCGGCCCTGAACAGAGCAG	0.507													33	47					0	0	0	0	C	39500167	G	C	39500167	4	2	460	1	0	0	0	0	0	0	0	0	10365	1285	45	2	326	2	NDUFS5	1	39500167	Nonstop_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1443721	39500167	209750454	12	89172											
HIVEP3	59269	broad.mit.edu	37	chr1	42045958	42045958	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttgtgtcagatggatctGaggacaggctggacagcatt	9	11	13	8	0	2	2	1	1	1	1	2	5	2	5	1	4	1	2	1	4	0	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:42045958G>C	ENST00000372584.1	-	3	5525	c.4511C>G	c.(4510-4512)tCa>tGa	p.S1504*	HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.S1504*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1504					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S1504L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGATGGATCTGAGGACAGGCT	0.562													4	77					0	0	0	0	C	42045958	G	C	42045958	4	2	460	1	0	0	0	0	0	1	0	0	7238	1294	45	2	2733	2	HIVEP3	1	42045958	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2545791	42045958	207204663	13	89173											
NRD1	4898	broad.mit.edu	37	chr1	52256608	52256608	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcagtgaggttctcaatCttctcctcaaagctagaaag	11	13	7	10	0	6	2	3	1	4	1	8	2	6	2	1	1	1	2	1	1	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:52256608C>G	ENST00000354831.7	-	30	3408	c.3219G>C	c.(3217-3219)aaG>aaC	p.K1073N	NRD1_ENST00000352171.7_Missense_Mutation_p.K1005N|NRD1_ENST00000539524.1_Missense_Mutation_p.K941N|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1004					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GGTTCTCAATCTTCTCCTCAA	0.413													15	16					0	0	0	0	G	52256608	C	G	52256608	3	3	460	1	0	0	0	0	1	0	0	0	10716	912	32	2	456	2	NRD1	1	52256608	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	10210650	52256608	196994013	14	89174											
USP33	23032	broad.mit.edu	37	chr1	78163136	78163136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaattccatgtttcttCagaaatctggccagaatctg	13	12	7	9	0	4	3	1	0	3	3	5	3	5	3	2	1	0	1	2	1	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:78163136C>G	ENST00000370793.1	-	25	3041	c.2695G>C	c.(2695-2697)Gaa>Caa	p.E899Q	USP33_ENST00000370794.3_Missense_Mutation_p.E868Q|USP33_ENST00000357428.1_Missense_Mutation_p.E899Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	899	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATGTTTCTTCAGAAATCTGG	0.388													10	112					0	0	0	0	G	78163136	C	G	78163136	3	3	460	1	0	0	0	0	1	0	0	0	17160	835	29	2	137	2	USP33	1	78163136	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	25906528	78163136	171087485	15	89175											
DNAJB4	11080	broad.mit.edu	37	chr1	78479023	78479023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattcatgaacttagagtatCacttgaagagatatatagtg	15	14	8	4	0	2	4	2	2	0	2	2	5	2	4	0	0	1	1	0	0	8	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:78479023C>T	ENST00000370763.5	+	2	757	c.500C>T	c.(499-501)tCa>tTa	p.S167L	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	167					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTAGAGTATCACTTGAAGAG	0.418													43	75					0	0	0	0	T	78479023	C	T	78479023	3	4	460	1	0	0	0	0	1	0	0	0	4658	838	29	2	506	2	DNAJB4	1	78479023	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	315887	78479023	170771598	16	89176											
PRKACB	5567	broad.mit.edu	37	chr1	84649756	84649756	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagagcatactttgaatGagaaaagaatattacaggca	20	9	8	4	0	0	4	0	2	0	3	0	5	0	4	0	1	3	2	0	1	9	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:84649756G>T	ENST00000370689.2	+	4	538	c.274G>T	c.(274-276)Gag>Tag	p.E92*	PRKACB_ENST00000370680.1_Nonsense_Mutation_p.E98*|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370682.3_Nonsense_Mutation_p.E96*|PRKACB_ENST00000370685.3_Nonsense_Mutation_p.E139*|PRKACB_ENST00000394838.2_Nonsense_Mutation_p.E99*|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370688.3_Nonsense_Mutation_p.E92*	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	92	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TACTTTGAATGAGAAAAGAAT	0.264													25	39					2.48779e-11	2.55021e-11	1	0	T	84649756	G	T	84649756	4	4	460	1	0	0	0	0	0	1	0	0	12578	1291	45	2	479	2	PRKACB	1	84649756	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6170733	84649756	164600865	17	89177											
CLCA4	22802	broad.mit.edu	37	chr1	87040226	87040226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatctatttaaacagctcGaaagtaagggattaacactg	17	10	8	6	1	1	0	0	0	1	0	2	3	1	1	0	1	3	2	0	1	7	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:87040226G>A	ENST00000370563.3	+	10	1513	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	491						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TAAACAGCTCGAAAGTAAGGG	0.343													21	43					0	0	0	0	A	87040226	G	A	87040226	3	1	460	1	0	0	0	0	1	0	0	0	3489	1059	37	1	1509	1	CLCA4	1	87040226	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2390470	87040226	162210395	18	89178											
OLFM3	118427	broad.mit.edu	37	chr1	102290692	102290692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaataccagtgaggacagcaGacagattccttatttcctcc	12	10	8	11	0	0	3	0	1	0	2	3	5	3	4	4	1	2	1	4	1	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:102290692G>A	ENST00000370103.4	-	4	695	c.482C>T	c.(481-483)tCt>tTt	p.S161F	OLFM3_ENST00000536598.1_Missense_Mutation_p.S86F|OLFM3_ENST00000338858.5_Missense_Mutation_p.S181F|OLFM3_ENST00000359814.3_Missense_Mutation_p.S181F|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	181						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GAGGACAGCAGACAGATTCCT	0.468													4	40					0	0	0	0	A	102290692	G	A	102290692	3	1	460	1	0	0	0	0	1	0	0	0	10925	942	33	2	906	2	OLFM3	1	102290692	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	15250466	102290692	146959929	19	89179											
HIPK1	204851	broad.mit.edu	37	chr1	114512633	114512633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgtcactgtcaatgattctCcagactctgactcttctttg	8	16	6	11	0	6	3	2	2	4	1	7	3	6	3	1	0	0	0	1	0	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:114512633C>G	ENST00000369558.1	+	14	3059	c.2827C>G	c.(2827-2829)Cca>Gca	p.P943A	HIPK1_ENST00000369554.2_Missense_Mutation_p.P898A|HIPK1_ENST00000369555.2_Missense_Mutation_p.P898A|HIPK1_ENST00000340480.4_Missense_Mutation_p.P569A|HIPK1_ENST00000426820.2_Missense_Mutation_p.P943A|HIPK1_ENST00000406344.1_Missense_Mutation_p.P549A|HIPK1_ENST00000369553.1_Missense_Mutation_p.P549A|HIPK1_ENST00000369559.4_Missense_Mutation_p.P943A|HIPK1_ENST00000369561.4_Missense_Mutation_p.P909A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	943	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CAATGATTCTCCAGACTCTGA	0.438													58	123					0	0	0	0	G	114512633	C	G	114512633	3	3	460	1	0	0	0	0	1	0	0	0	7166	855	30	2	2895	2	HIPK1	1	114512633	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	12221941	114512633	134737988	20	89180											
PTGFRN	5738	broad.mit.edu	37	chr1	117527432	117527432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggactggaagagcgacctCagcctggagcgcgtgagtgt	9	6	17	9	3	1	2	1	1	0	1	1	6	1	5	2	3	3	0	2	3	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:117527432C>T	ENST00000393203.2	+	8	2445	c.2298C>T	c.(2296-2298)ctC>ctT	p.L766L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	766	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AGAGCGACCTCAGCCTGGAGC	0.592													65	107					0	0	0	0	T	117527432	C	T	117527432	2	4	460	1	0	0	0	0	0	0	0	1	12830	813	29	2		2	PTGFRN	1	117527432	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3014799	117527432	131723189	21	89181											
BOLA1	51027	broad.mit.edu	37	chr1	149871805	149871805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcggtcccgcctggcagtGagactcacttccgcgtggct	5	8	13	15	5	1	1	1	1	0	1	3	2	3	1	3	3	0	2	3	3	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:149871805G>A	ENST00000369153.2	+	3	857	c.193G>A	c.(193-195)Gag>Aag	p.E65K	BOLA1_ENST00000369150.1_Missense_Mutation_p.E65K|BOLA1_ENST00000369152.5_Missense_Mutation_p.E65K|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	65						extracellular region	protein binding	p.E65K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCTGGCAGTGAGACTCACTT	0.677													7	56					0	0	0	0	A	149871805	G	A	149871805	3	1	460	1	0	0	0	0	1	0	0	0	1490	1291	45	2	195	2	BOLA1	1	149871805	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	32344373	149871805	99378816	22	89182											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150528772	150528772	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccccctgggctatcagaaGatcttgtggattccagcggg	7	9	14	11	1	2	2	1	0	1	2	3	3	3	3	3	4	1	1	3	4	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:150528772G>A	ENST00000271643.4	+	9	1742	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	ADAMTSL4_ENST00000369041.5_Silent_p.K502K|ADAMTSL4_ENST00000369038.2_Silent_p.K502K|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.K525K	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	502					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTATCAGAAGATCTTGTGGA	0.617													14	158					0	0	0	0	A	150528772	G	A	150528772	2	1	460	1	0	0	0	0	0	0	0	1	277	933	33	2		2	ADAMTSL4	1	150528772	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	656967	150528772	98721849	23	89183											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529627	150529627	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcctgctcccctgcacagaGattctgagggtggagccccc	6	7	12	16	1	1	2	0	1	1	1	2	4	2	3	5	2	3	2	5	2	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:150529627G>C	ENST00000271643.4	+	12	2099	c.1861_splice	c.e12-1	p.E621_splice	ADAMTSL4_ENST00000369041.5_Splice_Site_p.E621_splice|ADAMTSL4_ENST00000369038.2_Splice_Site_p.E621_splice|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Splice_Site_p.E644_splice	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	621	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTGCACAGAGATTCTGAGGG	0.692													9	75					0	0	0	0	C	150529627	G	C	150529627	5	2	460	1	0	0	0	0	0	0	1	0	277	956	33	2	1901	2	ADAMTSL4	1	150529627	Splice_Site	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	855	150529627	98720994	24	89184											
HRNR	388697	broad.mit.edu	37	chr1	152195636	152195636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagaagttctttcagctCtgccttgttcaacgtatcat	8	16	6	11	1	5	1	3	0	2	1	6	1	6	1	2	0	3	4	2	0	3	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:152195636C>T	ENST00000368801.2	-	2	169	c.94G>A	c.(94-96)Gag>Aag	p.E32K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	32	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTTCAGCTCTGCCTTGTTC	0.413													8	90					0	0	0	0	T	152195636	C	T	152195636	3	4	460	1	0	0	0	0	1	0	0	0	7409	922	32	2	8466	2	HRNR	1	152195636	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1666009	152195636	97054985	25	89185											
CLK2	1196	broad.mit.edu	37	chr1	155239300	155239300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagatgagcggctaaatgtCcggctgcgcctcctccgccg	7	7	13	14	5	0	2	0	1	0	1	3	3	3	2	5	2	2	2	5	2	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:155239300C>T	ENST00000368361.4	-	3	693	c.378G>A	c.(376-378)cgG>cgA	p.R126R	CLK2_ENST00000361168.5_Silent_p.R126R|CLK2_ENST00000355560.4_Silent_p.R125R|CLK2_ENST00000536801.1_Silent_p.R126R			P49760	CLK2_HUMAN	CDC-like kinase 2	126						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTAAATGTCCGGCTGCGCC	0.597								Other conserved DNA damage response genes					12	127					0	0	0	0	T	155239300	C	T	155239300	2	4	460	1	0	0	0	0	0	0	0	1	3567	842	30	2		2	CLK2	1	155239300	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3043664	155239300	94011321	26	89186											
CLK2	1196	broad.mit.edu	37	chr1	155239404	155239404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatgccgatagtctgtgtCatagtaggcatctccccgat	9	11	11	10	2	3	0	1	0	2	0	4	3	3	1	3	2	1	2	3	2	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:155239404C>T	ENST00000368361.4	-	3	589	c.274G>A	c.(274-276)Gac>Aac	p.D92N	CLK2_ENST00000361168.5_Missense_Mutation_p.D92N|CLK2_ENST00000355560.4_Missense_Mutation_p.D91N|CLK2_ENST00000536801.1_Missense_Mutation_p.D92N			P49760	CLK2_HUMAN	CDC-like kinase 2	92						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGTCTGTGTCATAGTAGGCA	0.572								Other conserved DNA damage response genes					29	219					0	0	0	0	T	155239404	C	T	155239404	3	4	460	1	0	0	0	0	1	0	0	0	3567	826	29	2	1266	2	CLK2	1	155239404	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	104	155239404	94011217	27	89187											
NCSTN	23385	broad.mit.edu	37	chr1	160326073	160326073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acccgcctgctctatgggttCctgattaaagccaacaactc	10	10	7	14	1	1	1	0	1	1	0	3	1	2	1	4	1	4	2	4	1	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:160326073C>G	ENST00000368063.1	+	15	1795	c.1515C>G	c.(1513-1515)ttC>ttG	p.F505L	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.F505L|NCSTN_ENST00000294785.5_Missense_Mutation_p.F525L|NCSTN_ENST00000368065.4_Missense_Mutation_p.F267L|NCSTN_ENST00000535857.1_Missense_Mutation_p.F387L			Q92542	NICA_HUMAN	nicastrin	525					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTATGGGTTCCTGATTAAAG	0.498													21	37					0	0	0	0	G	160326073	C	G	160326073	3	3	460	1	0	0	0	0	1	0	0	0	10311	854	30	2	1629	2	NCSTN	1	160326073	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	5086669	160326073	88924548	28	89188											
FCER1G	2207	broad.mit.edu	37	chr1	161188709	161188709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggagacttacgagactctGaagcatgagaaaccaccaca	16	5	9	11	1	1	4	0	2	1	3	1	7	1	4	2	1	3	1	2	1	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:161188709G>A	ENST00000289902.1	+	5	262	c.237G>A	c.(235-237)ctG>ctA	p.L79L	FCER1G_ENST00000490414.1_3'UTR|FCER1G_ENST00000367992.3_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	79	ITAM.				platelet activation	integral to plasma membrane				endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	ACGAGACTCTGAAGCATGAGA	0.532													52	81					0	0	0	0	A	161188709	G	A	161188709	2	1	460	1	0	0	0	0	0	0	0	1	5820	1277	45	2		2	FCER1G	1	161188709	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	862636	161188709	88061912	29	89189											
DUSP27	92235	broad.mit.edu	37	chr1	167097674	167097674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaagagggagagaaagaGaggacagaaaacagagaaga	23	0	16	2	0	0	7	0	0	0	7	0	13	0	9	0	2	1	0	0	2	6	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:167097674G>C	ENST00000361200.2	+	6	3472	c.3306G>C	c.(3304-3306)gaG>gaC	p.E1102D	DUSP27_ENST00000443333.1_Missense_Mutation_p.E1102D|DUSP27_ENST00000271385.5_Missense_Mutation_p.E1102D|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1102					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGAGAAAGAGAGGACAGAAA	0.488													12	48					0	0	0	0	C	167097674	G	C	167097674	3	2	460	1	0	0	0	0	1	0	0	0	4860	933	33	2	3324	2	DUSP27	1	167097674	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5908965	167097674	82152947	30	89190											
TNN	63923	broad.mit.edu	37	chr1	175116109	175116109	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaggacatgaattctccattCcttacgtggagttgaaaatc	13	12	8	8	1	1	2	0	2	1	0	4	4	2	4	2	2	1	1	2	2	5	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:175116109C>G	ENST00000239462.4	+	19	3915	c.3802C>G	c.(3802-3804)Cct>Gct	p.P1268A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1268	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATTCTCCATTCCTTACGTGGA	0.517											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	64					0	0	0	0	G	175116109	C	G	175116109	3	3	460	1	0	0	0	0	1	0	0	0	16417	855	30	2	3872	2	TNN	1	175116109	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	8018435	175116109	74134512	31	89191											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179851877	179851877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccaaagaaaggtccccGgtgggaaaacgaacccggct	12	4	14	11	3	0	1	0	0	0	1	1	3	1	2	4	5	2	1	4	5	5	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:179851877G>A	ENST00000435319.3	+	1	431	c.240G>A	c.(238-240)ccG>ccA	p.P80P	TOR1AIP1_ENST00000271583.3_Silent_p.P80P	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	80						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AAAGGTCCCCGGTGGGAAAAC	0.627													49	62					0	0	0	0	A	179851877	G	A	179851877	2	1	460	1	0	0	0	0	0	0	0	1	16467	1103	39	1		1	TOR1AIP1	1	179851877	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	4735768	179851877	69398744	32	89192											
CEP350	9857	broad.mit.edu	37	chr1	180062752	180062752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacattggtgatagggtgttGattggaaatgttcagccagg	10	12	14	5	0	1	2	1	2	0	0	1	3	1	3	1	4	1	2	1	4	2	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:180062752G>C	ENST00000367607.3	+	34	7930	c.7512G>C	c.(7510-7512)ttG>ttC	p.L2504F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2504						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATAGGGTGTTGATTGGAAATG	0.428													27	40					0	0	0	0	C	180062752	G	C	180062752	3	2	460	1	0	0	0	0	1	0	0	0	3283	1281	45	2	7642	2	CEP350	1	180062752	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	210875	180062752	69187869	33	89193											
CEP350	9857	broad.mit.edu	37	chr1	180063194	180063194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtacttgaagcccatgttCaccagcagtcttcagtggat	9	11	11	10	0	3	1	2	1	1	0	3	2	3	2	2	2	3	3	2	2	2	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:180063194C>T	ENST00000367607.3	+	34	8372	c.7954C>T	c.(7954-7956)Cac>Tac	p.H2652Y	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2652						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCCCATGTTCACCAGCAGTC	0.403													15	23					0	0	0	0	T	180063194	C	T	180063194	3	4	460	1	0	0	0	0	1	0	0	0	3283	826	29	2	8084	2	CEP350	1	180063194	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	442	180063194	69187427	34	89194											
RNASEL	6041	broad.mit.edu	37	chr1	182555618	182555618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttagaaaggaaaagtttCagcagcttcacgctccccgc	11	9	8	13	2	2	1	2	0	0	1	3	2	3	2	3	1	2	4	3	1	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:182555618C>T	ENST00000367559.3	-	2	577	c.324G>A	c.(322-324)ctG>ctA	p.L108L	RNASEL_ENST00000539397.1_Silent_p.L108L|RNASEL_ENST00000444138.1_Silent_p.L108L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	108					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGAAAAGTTTCAGCAGCTTCA	0.493													20	29					0	0	0	0	T	182555618	C	T	182555618	2	4	460	1	0	0	0	0	0	0	0	1	13501	813	29	2		2	RNASEL	1	182555618	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2492424	182555618	66695003	35	89195											
ASPM	259266	broad.mit.edu	37	chr1	197071403	197071403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcgcatccttttccttatCatccatcttctgtatgatga	7	18	4	12	1	4	2	1	2	3	0	8	2	7	2	3	0	0	2	3	0	2	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:197071403C>T	ENST00000367409.4	-	18	7234	c.6978G>A	c.(6976-6978)atG>atA	p.M2326I	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2326	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTCCTTATCATCCATCTTC	0.393													37	55					0	0	0	0	T	197071403	C	T	197071403	3	4	460	1	0	0	0	0	1	0	0	0	1060	826	29	2	3499	2	ASPM	1	197071403	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	14515785	197071403	52179218	36	89196											
KIF21B	23046	broad.mit.edu	37	chr1	200943886	200943886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattggtgcagatggcattGatgggactgtcgtggccctt	6	12	15	8	1	0	2	0	1	0	1	1	3	0	3	1	4	1	3	1	4	0	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:200943886G>A	ENST00000332129.2	-	33	5047	c.4731C>T	c.(4729-4731)atC>atT	p.I1577I	KIF21B_ENST00000461742.2_Silent_p.I1590I|KIF21B_ENST00000422435.2_Silent_p.I1590I|KIF21B_ENST00000360529.5_Silent_p.I1577I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1590					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGATGGCATTGATGGGACTGT	0.592													54	76					0	0	0	0	A	200943886	G	A	200943886	2	1	460	1	0	0	0	0	0	0	0	1	8340	1280	45	2		2	KIF21B	1	200943886	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3872483	200943886	48306735	37	89197											
KIF21B	23046	broad.mit.edu	37	chr1	200944633	200944633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctgaccccacctggatGagctcctgctggtctaggtc	5	10	10	16	0	1	2	0	2	1	0	4	3	3	3	6	3	2	2	6	3	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:200944633G>A	ENST00000332129.2	-	32	4885	c.4569C>T	c.(4567-4569)ctC>ctT	p.L1523L	KIF21B_ENST00000461742.2_Silent_p.L1536L|KIF21B_ENST00000422435.2_Silent_p.L1536L|KIF21B_ENST00000360529.5_Silent_p.L1523L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1536					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACCTGGATGAGCTCCTGCT	0.602													32	61					0	0	0	0	A	200944633	G	A	200944633	2	1	460	1	0	0	0	0	0	0	0	1	8340	1277	45	2		2	KIF21B	1	200944633	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	747	200944633	48305988	38	89198											
LGR6	59352	broad.mit.edu	37	chr1	202288300	202288300	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcagggggtggcggctttCagccctctggcttggccttt	2	13	15	11	1	3	0	2	0	1	0	3	0	3	0	2	6	1	2	2	6	0	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:202288300C>T	ENST00000367278.3	+	18	2958	c.2869C>T	c.(2869-2871)Cag>Tag	p.Q957*	LGR6_ENST00000255432.7_Nonsense_Mutation_p.Q905*|LGR6_ENST00000439764.2_Nonsense_Mutation_p.Q818*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	957						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGCGGCTTTCAGCCCTCTGG	0.582													33	46					0	0	0	0	T	202288300	C	T	202288300	4	4	460	1	0	0	0	0	0	1	0	0	8812	827	29	2	3086	2	LGR6	1	202288300	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1343667	202288300	46962321	39	89199											
PLEKHA6	22874	broad.mit.edu	37	chr1	204214770	204214770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggcggtgtccgtgccccGggaggggttgttcttcctca	2	12	15	12	3	2	0	1	0	1	0	4	1	4	1	4	5	1	2	4	5	0	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:204214770G>A	ENST00000272203.3	-	14	2321	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R689W	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	669										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCCGTGCCCCGGGAGGGGTTG	0.597													5	99					0	0	0	0	A	204214770	G	A	204214770	3	1	460	1	0	0	0	0	1	0	0	0	12132	1115	39	1	1177	1	PLEKHA6	1	204214770	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1926470	204214770	45035851	40	89200											
PM20D1	148811	broad.mit.edu	37	chr1	205801748	205801748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagtaatattgacttcCgggaagacggactgtacggt	10	9	15	7	3	0	2	0	1	0	1	1	4	1	4	1	5	1	3	1	5	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:205801748C>T	ENST00000367136.4	-	11	1307	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	421						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TATTGACTTCCGGGAAGACGG	0.572													31	64					0	0	0	0	T	205801748	C	T	205801748	2	4	460	1	0	0	0	0	0	0	0	1	12200	639	23	1		1	PM20D1	1	205801748	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1586978	205801748	43448873	41	89201											
OR2L13	284521	broad.mit.edu	37	chr1	248262837	248262837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatccacgtggatcctcgtCtccacacaccgatgtacttt	8	12	6	15	3	2	0	1	0	1	0	6	2	4	1	4	1	1	1	4	1	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:248262837C>G	ENST00000366478.2	+	3	497	c.160C>G	c.(160-162)Ctc>Gtc	p.L54V	OR2L13_ENST00000358120.2_Missense_Mutation_p.L54V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			GGATCCTCGTCTCCACACACC	0.507													8	156					0	0	0	0	G	248262837	C	G	248262837	3	3	460	1	0	0	0	0	1	0	0	0	11077	913	32	2	162	2	OR2L13	1	248262837	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	42461089	248262837	987784	42	89202											
ASXL2	55252	broad.mit.edu	37	chr2	25967008	25967008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacctcccctgcttccagttCctgccagttccagtgtgggg	4	12	10	15	0	0	0	0	0	0	0	4	0	4	0	7	2	3	3	7	2	1	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:25967008C>T	ENST00000435504.4	-	13	2491	c.2198G>A	c.(2197-2199)gGa>gAa	p.G733E	ASXL2_ENST00000272341.4_Missense_Mutation_p.G473E|ASXL2_ENST00000336112.4_Missense_Mutation_p.G705E|ASXL2_ENST00000404843.1_Missense_Mutation_p.G473E			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	733	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCCAGTTCCTGCCAGTTC	0.592													21	185					0	0	0	0	T	25967008	C	T	25967008	3	4	460	1	0	0	0	0	1	0	0	0	1071	855	30	2	2113	2	ASXL2	2	25967008	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		25967008	217232365	43	89203											
HEATR5B	54497	broad.mit.edu	37	chr2	37287853	37287853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caataacaacatcttgggcaGatggtaacgaacgacagatg	16	7	10	8	2	1	2	0	0	1	2	1	4	1	2	0	2	4	2	0	2	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:37287853G>A	ENST00000233099.5	-	12	1815	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L	HEATR5B_ENST00000354531.2_Silent_p.L574L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	574							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATCTTGGGCAGATGGTAACGA	0.428													59	57					0	0	0	0	A	37287853	G	A	37287853	2	1	460	1	0	0	0	0	0	0	0	1	7082	933	33	2		2	HEATR5B	2	37287853	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	11320845	37287853	205911520	44	89204											
CYP1B1	1545	broad.mit.edu	37	chr2	38302190	38302190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgaaggccggccggtcggcGaaggccgagccctgctgcac	6	3	17	15	6	0	0	0	0	0	0	1	3	0	0	4	5	3	2	4	5	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:38302190G>A	ENST00000260630.3	-	2	743	c.342C>T	c.(340-342)ttC>ttT	p.F114F	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.F114F	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	114					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GCCGGTCGGCGAAGGCCGAGC	0.697													7	18					0	0	0	0	A	38302190	G	A	38302190	2	1	460	1	0	0	0	0	0	0	0	1	4183	1049	37	1		1	CYP1B1	2	38302190	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1014337	38302190	204897183	45	89205											
STON1	11037	broad.mit.edu	37	chr2	48807989	48807989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgtagatttttatttcagtCcaggacctccaagtaactct	10	16	6	9	0	2	1	1	0	1	1	4	2	4	2	3	1	1	2	3	1	4	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:48807989C>G	ENST00000309835.3	+	1	227	c.217C>G	c.(217-219)Cca>Gca	p.P73A	STON1_ENST00000406226.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P73A|STON1_ENST00000404752.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P73A					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTATTTCAGTCCAGGACCTCC	0.498													11	137					0	0	0	0	G	48807989	C	G	48807989	3	3	460	1	0	0	0	0	1	0	0	0	15406	855	30	2	219	2	STON1	2	48807989	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	10505799	48807989	194391384	46	89206											
LHCGR	3973	broad.mit.edu	37	chr2	48956296	48956296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttagctgatgcttacatttCagacaaattgaggaggttgt	11	14	11	5	0	1	3	1	2	0	1	1	4	1	4	0	2	3	4	0	2	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:48956296C>G	ENST00000294954.7	-	3	325	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	LHCGR_ENST00000403273.1_Missense_Mutation_p.E102Q|LHCGR_ENST00000401907.1_Missense_Mutation_p.E102Q|LHCGR_ENST00000344775.3_Missense_Mutation_p.E102Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E102Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	102					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCTTACATTTCAGACAAATTG	0.438													12	115					0	0	0	0	G	48956296	C	G	48956296	3	3	460	1	0	0	0	0	1	0	0	0	8816	835	29	2	1831	2	LHCGR	2	48956296	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	148307	48956296	194243077	47	89207											
CCDC85A	114800	broad.mit.edu	37	chr2	56419832	56419832	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggagaacatggagctcaAggagctctgtgtgctactag	12	8	14	7	0	2	1	1	0	1	1	2	5	2	3	0	3	5	3	0	3	5	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:56419832A>T	ENST00000407595.2	+	2	999	c.497A>T	c.(496-498)aAg>aTg	p.K166M	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	166										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGGAGCTCAAGGAGCTCTGT	0.587													36	69					0	0	0	0	T	56419832	A	T	56419832	3	4	460	1	0	0	0	0	1	0	0	0	2886	72	3	5	503	5	CCDC85A	2	56419832	Missense_Mutation	SNP	A	TCGA-P3-A5QF-01A-11D-A28R-08	7463536	56419832	186779541	48	89208											
BCL11A	53335	broad.mit.edu	37	chr2	60688601	60688601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcctcctcgtccccGttctccgggatcaggttggg	2	13	10	16	3	3	0	1	0	2	0	9	1	7	1	6	3	0	2	6	3	0	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:60688601G>A	ENST00000335712.6	-	4	1673	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	BCL11A_ENST00000358510.4_Silent_p.N448N|BCL11A_ENST00000538214.1_Silent_p.N448N|BCL11A_ENST00000356842.4_Silent_p.N482N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.N151N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	482	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cctcgtccccgttctccGGGA	0.632			T	IGH@	B-CLL								7	32					0	0	0	0	A	60688601	G	A	60688601	2	1	460	1	0	0	0	0	0	0	0	1	1367	1136	40	1		1	BCL11A	2	60688601	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	4268769	60688601	182510772	49	89209											
USP34	9736	broad.mit.edu	37	chr2	61632948	61632948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttccttctcatctgtactCcataaactaaaaggatcaga	13	14	4	10	0	3	1	2	0	2	1	6	2	5	2	2	1	2	1	2	1	5	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:61632948C>G	ENST00000398571.2	-	3	523	c.447G>C	c.(445-447)tgG>tgC	p.W149C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	149					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATCTGTACTCCATAAACTAA	0.318													17	34					0	0	0	0	G	61632948	C	G	61632948	3	3	460	1	0	0	0	0	1	0	0	0	17161	856	30	2	10505	2	USP34	2	61632948	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	944347	61632948	181566425	50	89210											
USP34	9736	broad.mit.edu	37	chr2	61633028	61633028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtagagtttgattttttttCtattgatttttgtctttctg	5	26	7	3	0	3	3	0	2	3	1	3	3	3	3	0	0	0	2	0	0	2	11			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:61633028C>G	ENST00000398571.2	-	3	443	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	123					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E123K(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GATTTTTTTTCTATTGATTTT	0.343													27	42					0	0	0	0	G	61633028	C	G	61633028	3	3	460	1	0	0	0	0	1	0	0	0	17161	922	32	2	10585	2	USP34	2	61633028	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	80	61633028	181566345	51	89211											
LRRTM4	80059	broad.mit.edu	37	chr2	77745691	77745691	+	Missense_Mutation	SNP	G	G	A																															ccaagaggatcatggccactGagagaaagagagccacactc																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:77745691G>A	ENST00000409088.3	-	3	1718	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	LRRTM4_ENST00000409884.1_Missense_Mutation_p.S435L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S436L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S436L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S435L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	435						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CATGGCCACTGAGAGAAAGAG	0.498													10	87					0	0	0	0	A	77745691	G	A	77745691	3	1	460	1	0	0	0	0	1	0	0	0	9106	1294	45	2	482	2	LRRTM4	2	77745691	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	16112663	77745691	165453682	52	89212	1099	2									
LRRTM4	80059	broad.mit.edu	37	chr2	77745701	77745701	+	Missense_Mutation	SNP	G	G	C																															catggccactgagagaaagaGagccacactcccggcaataa																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:77745701G>C	ENST00000409088.3	-	3	1708	c.1294C>G	c.(1294-1296)Ctc>Gtc	p.L432V	LRRTM4_ENST00000409884.1_Missense_Mutation_p.L432V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L433V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L433V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L432V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	432						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAGAGAAAGAGAGCCACACTC	0.478													9	87					0	0	0	0	C	77745701	G	C	77745701	3	2	460	1	0	0	0	0	1	0	0	0	9106	942	33	2	492	2	LRRTM4	2	77745701	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	10	77745701	165453672	53	89213	1099	2									
GPAT2	150763	broad.mit.edu	37	chr2	96690236	96690236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagttgtgccaggtgtgtGaggcctgggccaggctgcgg	4	9	18	10	1	1	1	1	1	0	0	1	1	1	1	3	5	2	2	3	5	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:96690236G>A	ENST00000434632.1	-	16	2067	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	GPAT2_ENST00000377137.3_Silent_p.L536L|GPAT2_ENST00000453542.1_Silent_p.L465L|GPAT2_ENST00000359548.4_Silent_p.L536L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	536					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CCAGGTGTGTGAGGCCTGGGC	0.667													50	92					0	0	0	0	A	96690236	G	A	96690236	2	1	460	1	0	0	0	0	0	0	0	1	6638	1277	45	2		2	GPAT2	2	96690236	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	18944535	96690236	146509137	54	89214											
REV1	51455	broad.mit.edu	37	chr2	100029249	100029249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagattttctttccttttCagttcgaactggtctatcat	9	18	5	9	1	4	1	2	0	2	1	6	2	5	1	1	1	2	1	1	1	3	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:100029249C>T	ENST00000258428.3	-	13	2344	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	REV1_ENST00000393445.3_Missense_Mutation_p.E705K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	706					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTCCTTTTCAGTTCGAACT	0.388								Direct reversal of damage					35	37					0	0	0	0	T	100029249	C	T	100029249	3	4	460	1	0	0	0	0	1	0	0	0	13321	835	29	2	1683	2	REV1	2	100029249	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3339013	100029249	143170124	55	89215											
NPAS2	4862	broad.mit.edu	37	chr2	101609899	101609899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcctgctgatggggcaGgcggtgctccaccccagctt	4	8	13	16	2	0	1	0	1	0	0	2	1	2	1	5	4	3	4	5	4	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:101609899G>A	ENST00000335681.5	+	20	2487	c.2202G>A	c.(2200-2202)caG>caA	p.Q734Q	NPAS2_ENST00000542504.1_Silent_p.Q799Q	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	734					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATGGGGCAGGCGGTGCTCC	0.672													35	35					0	0	0	0	A	101609899	G	A	101609899	2	1	460	1	0	0	0	0	0	0	0	1	10633	991	35	4		4	NPAS2	2	101609899	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1580650	101609899	141589474	56	89216											
RGPD3	653489	broad.mit.edu	37	chr2	107041152	107041152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttactttgccattgacctCgtttttgagaatttttaagt	8	20	6	7	1	1	2	0	2	1	1	2	3	1	2	2	0	2	1	2	0	3	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:107041152C>T	ENST00000409886.3	-	20	3358	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1091K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1091	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCATTGACCTCGTTTTTGAGA	0.393													31	430					0	0	0	0	T	107041152	C	T	107041152	3	4	460	1	0	0	0	0	1	0	0	0	13369	893	31	1	2021	1	RGPD3	2	107041152	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	5431253	107041152	136158221	57	89217											
PAX8	7849	broad.mit.edu	37	chr2	114004387	114004387	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagctggcgagagatgtcGcagggccttacaccctggtg	7	7	16	11	3	0	1	0	0	0	1	1	4	0	2	2	4	2	2	2	4	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:114004387G>T	ENST00000429538.3	-	3	329	c.135C>A	c.(133-135)tgC>tgA	p.C45*	AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Nonsense_Mutation_p.C45*|PAX8_ENST00000348715.5_Nonsense_Mutation_p.C45*|PAX8_ENST00000263334.5_Nonsense_Mutation_p.C45*|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263335.7_Nonsense_Mutation_p.C45*|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000451179.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	45	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GAGAGATGTCGCAGGGCCTTA	0.642			T	PPARG	follicular thyroid		Thyroid dysgenesis						6	94					8.12818e-05	8.21435e-05	1	0	T	114004387	G	T	114004387	4	4	460	1	0	0	0	0	0	1	0	0	11556	1079	38	3	1132	3	PAX8	2	114004387	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6963235	114004387	129194986	58	89218											
CCDC93	54520	broad.mit.edu	37	chr2	118715997	118715997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaggaaatgactttccGgcgatgtagctgggaggttc	9	11	14	7	2	1	1	1	1	0	0	3	4	2	3	1	4	1	4	1	4	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:118715997G>A	ENST00000376300.2	-	12	1086	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.R316W	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	317								p.R317G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398													6	59					0	0	0	0	A	118715997	G	A	118715997	3	1	460	1	0	0	0	0	1	0	0	0	2899	1115	39	1	998	1	CCDC93	2	118715997	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	4711610	118715997	124483376	59	89219											
MYO7B	4648	broad.mit.edu	37	chr2	128341887	128341887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatcatctccctcctggacGaagaaagccgcttcccgcag	9	7	9	16	3	2	1	1	0	1	1	5	3	4	2	4	1	1	3	4	1	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:128341887G>A	ENST00000389524.4	+	13	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K|MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	512	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602													15	87					0	0	0	0	A	128341887	G	A	128341887	3	1	460	1	0	0	0	0	1	0	0	0	10153	1059	37	1	1580	1	MYO7B	2	128341887	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	9625890	128341887	114857486	60	89220											
ARHGEF4	50649	broad.mit.edu	37	chr2	131803007	131803007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaagcagcaggtcacaGggaagcccaaaggtaggcgg	13	2	15	11	1	1	0	1	0	0	0	1	1	1	1	2	5	4	4	2	5	4	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:131803007G>A	ENST00000392953.3	+	13	2428	c.1909G>A	c.(1909-1911)Ggg>Agg	p.G637R	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.G566R|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G637R|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G637R|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G577R	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	637					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCAGGTCACAGGGAAGCCCAA	0.612													51	65					0	0	0	0	A	131803007	G	A	131803007	3	1	460	1	0	0	0	0	1	0	0	0	910	1000	35	4	1951	4	ARHGEF4	2	131803007	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3461120	131803007	111396366	61	89221											
NCKAP5	344148	broad.mit.edu	37	chr2	133542579	133542579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcagccaatgacacgtctGaaggacttttctcatcactg	10	10	9	12	2	3	2	2	2	2	0	4	3	3	3	1	2	1	1	1	2	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:133542579G>A	ENST00000409261.1	-	14	2178	c.1805C>T	c.(1804-1806)tCa>tTa	p.S602L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S602L|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	602							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGACACGTCTGAAGGACTTTT	0.507													4	66					0	0	0	0	A	133542579	G	A	133542579	3	1	460	1	0	0	0	0	1	0	0	0	10293	1294	45	2	3952	2	NCKAP5	2	133542579	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1739572	133542579	109656794	62	89222											
FMNL2	114793	broad.mit.edu	37	chr2	153482074	153482074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgatgatgagcgaattctgGaggtatttttctcattggtt	8	18	11	4	1	2	3	1	3	2	0	3	5	2	4	0	3	1	2	0	3	2	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:153482074G>C	ENST00000288670.9	+	16	2327	c.1960G>C	c.(1960-1962)Gag>Cag	p.E654Q	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000475377.2_Missense_Mutation_p.E29Q	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	654	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCGAATTCTGGAGGTATTTTT	0.438													23	37					0	0	0	0	C	153482074	G	C	153482074	3	2	460	1	0	0	0	0	1	0	0	0	5997	1175	41	2	2022	2	FMNL2	2	153482074	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	19939495	153482074	89717299	63	89223											
FIGN	55137	broad.mit.edu	37	chr2	164466821	164466821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactgaacgcgtctgacctCaacactggccataaaacctc	12	7	6	16	2	2	2	1	2	1	0	3	2	2	2	4	1	3	0	4	1	4	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:164466821C>T	ENST00000333129.3	-	3	1835	c.1521G>A	c.(1519-1521)ttG>ttA	p.L507L	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	507						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGTCTGACCTCAACACTGGCC	0.507													10	99					0	0	0	0	T	164466821	C	T	164466821	2	4	460	1	0	0	0	0	0	0	0	1	5936	825	29	2		2	FIGN	2	164466821	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	10984747	164466821	78732552	64	89224											
GAD1	2571	broad.mit.edu	37	chr2	171687552	171687552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatgtccgcaagacatttGatcgctccaccaaggtgctg	10	10	9	12	2	0	2	0	1	0	1	3	2	2	2	3	1	1	3	3	1	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:171687552G>C	ENST00000358196.3	+	5	947	c.397G>C	c.(397-399)Gat>Cat	p.D133H	GAD1_ENST00000344257.5_Missense_Mutation_p.D133H|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.D133H	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	133					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAAGACATTTGATCGCTCCAC	0.537													46	57					0	0	0	0	C	171687552	G	C	171687552	3	2	460	1	0	0	0	0	1	0	0	0	6227	1290	45	2	411	2	GAD1	2	171687552	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	7220731	171687552	71511821	65	89225											
NFE2L2	4780	broad.mit.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			6	55					0	0	0	0	T	178098810	C	T	178098810	3	4	460	1	0	0	0	0	1	0	0	0	10438	922	32	2	1598	2	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6411258	178098810	65100563	66	89226											
TTN	7273	broad.mit.edu	37	chr2	179429333	179429333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataacaatggcttcagggcGaccaggtgggtcacatggat	12	8	13	8	1	2	0	2	0	0	0	2	2	2	1	1	5	1	1	1	5	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179429333G>A	ENST00000589042.1	-	326	81750	c.81526C>T	c.(81526-81528)Cgc>Tgc	p.R27176C	TTN_ENST00000342992.6_Missense_Mutation_p.R24608C|TTN_ENST00000342175.6_Missense_Mutation_p.R18303C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25535C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18111C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18236C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25535	Ig-like 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCAGGGCGACCAGGTGGG	0.408													19	20					0	0	0	0	A	179429333	G	A	179429333	3	1	460	1	0	0	0	0	1	0	0	0	16831	1058	37	1	26601	1	TTN	2	179429333	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1330523	179429333	63770040	67	89227											
TTN	7273	broad.mit.edu	37	chr2	179451406	179451406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgatctgcaggctgctcttCttctctgtaactagtgatgt	6	15	10	10	1	4	1	0	1	4	0	5	2	4	1	0	1	3	4	0	1	2	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179451406C>G	ENST00000589042.1	-	308	64446	c.64222G>C	c.(64222-64224)Gaa>Caa	p.E21408Q	TTN_ENST00000342992.6_Missense_Mutation_p.E18840Q|TTN_ENST00000342175.6_Missense_Mutation_p.E12535Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19767Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12343Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12468Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19767	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGCTCTTCTTCTCTGTAA	0.458													48	78					0	0	0	0	G	179451406	C	G	179451406	3	3	460	1	0	0	0	0	1	0	0	0	16831	922	32	2	43977	2	TTN	2	179451406	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	22073	179451406	63747967	68	89228											
TTN	7273	broad.mit.edu	37	chr2	179451488	179451488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggctaaggtggcactgttCttggtcatttcagtcacttc	7	14	10	10	0	4	0	3	0	1	0	5	0	4	0	0	4	0	3	0	4	1	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179451488C>G	ENST00000589042.1	-	308	64364	c.64140G>C	c.(64138-64140)aaG>aaC	p.K21380N	TTN_ENST00000342992.6_Missense_Mutation_p.K18812N|TTN_ENST00000342175.6_Missense_Mutation_p.K12507N|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K19739N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K12315N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K12440N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19739	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCACTGTTCTTGGTCATTT	0.448													42	106					0	0	0	0	G	179451488	C	G	179451488	3	3	460	1	0	0	0	0	1	0	0	0	16831	912	32	2	44059	2	TTN	2	179451488	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	82	179451488	63747885	69	89229											
TTN	7273	broad.mit.edu	37	chr2	179614673	179614673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtggttcattagtaatatCagacaaaaatacaaatctgt	16	13	7	5	0	3	1	2	0	1	1	3	1	3	1	0	2	1	2	0	2	7	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179614673C>T	ENST00000360870.5	-	46	12676	c.12454G>A	c.(12454-12456)Gat>Aat	p.D4152N	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3497							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTAATATCAGACAAAAAT	0.368													17	36					0	0	0	0	T	179614673	C	T	179614673	3	4	460	1	0	0	0	0	1	0	0	0	16831	826	29	2	97843	2	TTN	2	179614673	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	163185	179614673	63584700	70	89230			1	144		5	4	1192	N	C	7.643085e-07
TTN	7273	broad.mit.edu	37	chr2	179615276	179615276	+	Missense_Mutation	SNP	C	C	T																															ttcataaacttcttgagattCaatttcttgaagaaatgaag																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615276C>T	ENST00000360870.5	-	46	12073	c.11851G>A	c.(11851-11853)Gaa>Aaa	p.E3951K	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9768							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGAGATTCAATTTCTTGA	0.353													10	11					0	0	0	0	T	179615276	C	T	179615276	3	4	460	1	0	0	0	0	1	0	0	0	16831	835	29	2	98446	2	TTN	2	179615276	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	603	179615276	63584097	71	89231	1100	2	1	144		5	4	1192	N	C	7.643085e-07
TTN	7273	broad.mit.edu	37	chr2	179615282	179615282	+	Missense_Mutation	SNP	C	C	T																															aacttcttgagattcaatttCttgaagaaatgaaggtgggc																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615282C>T	ENST00000360870.5	-	46	12067	c.11845G>A	c.(11845-11847)Gaa>Aaa	p.E3949K	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9766							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTCAATTTCTTGAAGAAAT	0.343													10	12					0	0	0	0	T	179615282	C	T	179615282	3	4	460	1	0	0	0	0	1	0	0	0	16831	922	32	2	98452	2	TTN	2	179615282	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6	179615282	63584091	72	89232	1100	2	1	144		5	4	1192	N	C	7.643085e-07
TTN	7273	broad.mit.edu	37	chr2	179615417	179615417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtaattctctcaaatCatccttttttattctttcac	9	20	3	9	0	5	0	3	0	2	0	7	1	6	0	1	0	0	2	1	0	3	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615417C>A	ENST00000360870.5	-	46	11932	c.11710G>T	c.(11710-11712)Gat>Tat	p.D3904Y	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9724							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTCAAATCATCCTTTTTT	0.333													14	24					7.93312e-07	8.05994e-07	1	0	A	179615417	C	A	179615417	3	1	460	1	0	0	0	0	1	0	0	0	16831	826	29	2	98587	2	TTN	2	179615417	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	135	179615417	63583956	73	89233			1	144		5	4	1192	N	C	7.643085e-07
TTN	7273	broad.mit.edu	37	chr2	179615864	179615864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttataactttcagctagatCagacatagatctgattttca	13	15	5	8	0	4	4	3	1	1	3	4	4	4	4	0	0	2	1	0	0	4	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615864C>T	ENST00000360870.5	-	46	11485	c.11263G>A	c.(11263-11265)Gat>Aat	p.D3755N	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9599							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCTAGATCAGACATAGAT	0.353													25	33					0	0	0	0	T	179615864	C	T	179615864	3	4	460	1	0	0	0	0	1	0	0	0	16831	826	29	2	99034	2	TTN	2	179615864	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	447	179615864	63583509	74	89234			1	144		5	4	1192	N	C	7.643085e-07
ZC3H15	55854	broad.mit.edu	37	chr2	187370271	187370271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaagattgataaacttGaacaagatatggaaagaagg	22	7	10	2	0	0	6	0	2	0	4	0	7	0	7	0	2	2	0	0	2	10	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:187370271G>C	ENST00000337859.6	+	7	1038	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	ZC3H15_ENST00000544130.1_Missense_Mutation_p.E66Q	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	271						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGATAAACTTGAACAAGATAT	0.388													35	44					0	0	0	0	C	187370271	G	C	187370271	3	2	460	1	0	0	0	0	1	0	0	0	17662	1291	45	2	837	2	ZC3H15	2	187370271	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	7754407	187370271	55829102	75	89235											
HSPE1	3336	broad.mit.edu	37	chr2	198367797	198367797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accagttagcgtgaaagttgGagataaagttcttctcccag	12	11	10	8	1	2	2	0	1	2	1	3	3	2	2	2	1	1	3	2	1	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:198367797G>C	ENST00000233893.5	+	3	646	c.203G>C	c.(202-204)gGa>gCa	p.G68A	MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_Missense_Mutation_p.G68A|HSPE1_ENST00000409729.1_Missense_Mutation_p.G13A	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			GTGAAAGTTGGAGATAAAGTT	0.343													10	113					0	0	0	0	C	198367797	G	C	198367797	3	2	460	1	0	0	0	0	1	0	0	0	7482	1174	41	2	213	2	HSPE1	2	198367797	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	10997526	198367797	44831576	76	89236											
NRP2	8828	broad.mit.edu	37	chr2	206659508	206659508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggactggagcaattcttCttctgcaacctcagggtctg	7	12	12	10	0	5	0	1	0	4	0	5	2	5	2	1	4	3	2	1	4	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:206659508C>T	ENST00000360409.3	+	17	3313	c.2522C>T	c.(2521-2523)tCt>tTt	p.S841F	NRP2_ENST00000540841.1_Missense_Mutation_p.S819F|NRP2_ENST00000357785.5_Missense_Mutation_p.S836F|NRP2_ENST00000540178.1_Missense_Mutation_p.S836F|NRP2_ENST00000412873.2_Missense_Mutation_p.S819F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	841					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGCAATTCTTCTTCTGCAACC	0.527													51	77					0	0	0	0	T	206659508	C	T	206659508	3	4	460	1	0	0	0	0	1	0	0	0	10732	913	32	2	2900	2	NRP2	2	206659508	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	8291711	206659508	36539865	77	89237											
ADAM23	8745	broad.mit.edu	37	chr2	207427003	207427003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaatccaatgggaaccttCtagcagaaagccaagtatgt	14	9	10	8	0	1	1	0	0	1	1	2	3	2	3	3	2	3	2	3	2	7	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:207427003C>T	ENST00000264377.3	+	13	1659	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	ADAM23_ENST00000374416.1_Missense_Mutation_p.S444F|ADAM23_ENST00000374415.3_Missense_Mutation_p.S444F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	444	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGGAACCTTCTAGCAGAAAG	0.393													99	161					0	0	0	0	T	207427003	C	T	207427003	3	4	460	1	0	0	0	0	1	0	0	0	245	913	32	2	1381	2	ADAM23	2	207427003	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	767495	207427003	35772370	78	89238											
SMARCAL1	50485	broad.mit.edu	37	chr2	217293450	217293450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagaggcagacctttctGaagtggaccccaagctcgtg	9	8	11	13	1	1	3	0	1	1	2	3	4	2	4	4	2	1	2	4	2	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:217293450G>A	ENST00000357276.4	+	7	1609	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	SMARCAL1_ENST00000479008.1_3'UTR|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.E427K	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	427					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGACCTTTCTGAAGTGGACCC	0.522									Schimke Immuno-Osseous Dysplasia				62	107					0	0	0	0	A	217293450	G	A	217293450	3	1	460	1	0	0	0	0	1	0	0	0	14861	1291	45	2	1297	2	SMARCAL1	2	217293450	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	9866447	217293450	25905923	79	89239											
IGFBP5	3488	broad.mit.edu	37	chr2	217543630	217543630	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccgggggtgggcagtgttCtcggctcccccgacaaactt	6	9	13	13	3	1	0	0	0	1	0	4	1	3	0	3	4	1	3	3	4	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:217543630C>T	ENST00000233813.4	-	2	1259	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	170					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCAGTGTTCTCGGCTCCCC	0.582													28	50					0	0	0	0	T	217543630	C	T	217543630	2	4	460	1	0	0	0	0	0	0	0	1	7635	912	32	2		2	IGFBP5	2	217543630	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	250180	217543630	25655743	80	89240											
SPEG	10290	broad.mit.edu	37	chr2	220337794	220337794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagccctcacccccttctGagcctgtgcagctgctggag	6	8	11	16	0	2	1	1	1	1	0	2	2	2	2	4	1	5	4	4	1	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:220337794G>A	ENST00000312358.7	+	16	4255	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1375	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCCCCTTCTGAGCCTGTGCA	0.672													34	33					0	0	0	0	A	220337794	G	A	220337794	3	1	460	1	0	0	0	0	1	0	0	0	15126	1291	45	2	4197	2	SPEG	2	220337794	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2794164	220337794	22861579	81	89241											
COL4A3	1285	broad.mit.edu	37	chr2	228176579	228176579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggtgtgcatgaagaaaaGacactgaagctaaaaaagac	19	6	10	6	0	1	5	1	2	0	3	1	5	1	5	0	1	2	2	0	1	7	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:228176579G>C	ENST00000396578.3	+	52	5168	c.5006G>C	c.(5005-5007)aGa>aCa	p.R1669T	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1669	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGAAGAAAAGACACTGAAGC	0.328													10	28					0	0	0	0	C	228176579	G	C	228176579	3	2	460	1	0	0	0	0	1	0	0	0	3721	942	33	2	5212	2	COL4A3	2	228176579	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	7838785	228176579	15022794	82	89242											
GIGYF2	26058	broad.mit.edu	37	chr2	233677127	233677127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatcagaacatcattccctCagtaactaggtctgtgtccg	10	12	8	11	1	4	2	3	1	1	1	6	2	6	2	2	1	2	1	2	1	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:233677127C>T	ENST00000373566.3	+	19	2296	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L	GIGYF2_ENST00000409451.3_Missense_Mutation_p.S699L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S509L|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S678L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S678L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S700L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S672L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	678	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATCATTCCCTCAGTAACTAGG	0.373													4	51					0	0	0	0	T	233677127	C	T	233677127	3	4	460	1	0	0	0	0	1	0	0	0	6429	838	29	2	2165	2	GIGYF2	2	233677127	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	5500548	233677127	9522246	83	89243											
PPARG	5468	broad.mit.edu	37	chr3	12447412	12447412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcggatgccacaggccgaGaaggagaagctgttggcgga	10	4	19	8	3	0	2	0	0	0	2	0	6	0	4	2	6	2	2	2	6	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:12447412G>C	ENST00000397026.2	+	7	968	c.585G>C	c.(583-585)gaG>gaC	p.E195D	PPARG_ENST00000397015.2_Missense_Mutation_p.E189D|PPARG_ENST00000539812.1_Missense_Mutation_p.E187D|PPARG_ENST00000397010.2_Missense_Mutation_p.E189D|PPARG_ENST00000309576.6_Missense_Mutation_p.E189D|PPARG_ENST00000287820.6_Missense_Mutation_p.E217D|PPARG_ENST00000397000.1_Missense_Mutation_p.E189D|PPARG_ENST00000397012.2_Missense_Mutation_p.E189D			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	217					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CACAGGCCGAGAAGGAGAAGC	0.512			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						35	74					0	0	0	0	C	12447412	G	C	12447412	3	2	460	1	0	0	0	0	1	0	0	0	12370	933	33	2	669	2	PPARG	3	12447412	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		12447412	185575018	84	89244											
LSM3	27258	broad.mit.edu	37	chr3	14223081	14223081	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaactaccaacactgtaGaggagcccctggatcttatc	14	8	7	12	0	1	1	0	0	1	1	2	3	1	3	3	2	5	1	3	2	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:14223081G>T	ENST00000306024.3	+	2	546	c.43G>T	c.(43-45)Gag>Tag	p.E15*		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	15					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						cAACACTGTAGAGGAGCCCCT	0.408													10	193					3.86212e-05	3.90997e-05	1	0	T	14223081	G	T	14223081	4	4	460	1	0	0	0	0	0	1	0	0	9121	943	33	2	49	2	LSM3	3	14223081	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1775669	14223081	183799349	85	89245											
TGFBR2	7048	broad.mit.edu	37	chr3	30733072	30733072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagattcctgaagacggctCcctaaacactaccaaatagc	15	7	7	12	1	0	3	0	1	0	2	2	4	2	3	3	1	3	1	3	1	7	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:30733072C>T	ENST00000295754.5	+	7	2067	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	TGFBR2_ENST00000359013.4_Missense_Mutation_p.S587F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	562					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGACGGCTCCCTAAACACT	0.587													66	73					0	0	0	0	T	30733072	C	T	30733072	3	4	460	1	0	0	0	0	1	0	0	0	15916	855	30	2	1790	2	TGFBR2	3	30733072	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	16509991	30733072	167289358	86	89246											
FBXL2	25827	broad.mit.edu	37	chr3	33425659	33425659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagctgtacgactgccAgcaggttacccgtgcaggca	8	7	12	14	3	0	0	0	0	0	0	1	2	0	0	3	2	6	6	3	2	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:33425659A>G	ENST00000484457.1	+	14	1221	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R	FBXL2_ENST00000446237.3_Missense_Mutation_p.Q118R|FBXL2_ENST00000542085.1_Missense_Mutation_p.Q87R|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q309R|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q293R|FBXL2_ENST00000507198.1_Missense_Mutation_p.Q309R|FBXL2_ENST00000283627.6_3'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	377					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TACGACTGCCAGCAGGTTACC	0.567													43	64					0	0	0	0	G	33425659	A	G	33425659	3	3	460	1	0	0	0	0	1	0	0	0	5761	188	7	5	1184	5	FBXL2	3	33425659	Missense_Mutation	SNP	A	TCGA-P3-A5QF-01A-11D-A28R-08	2692587	33425659	164596771	87	89247											
SCN11A	11280	broad.mit.edu	37	chr3	38912184	38912184	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtagaacactgactcacctCtgtggaatcaacagctgcat	12	9	9	11	0	3	2	2	1	1	1	3	3	3	3	1	2	4	3	1	2	4	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:38912184C>G	ENST00000450244.1	-	22	4009	c.3811G>C	c.(3811-3813)Gag>Cag	p.E1271Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1233Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1271Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1271Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1271					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGACTCACCTCTGTGGAATCA	0.418													23	38					0	0	0	0	G	38912184	C	G	38912184	3	3	460	1	0	0	0	0	1	0	0	0	14000	922	32	2	1584	2	SCN11A	3	38912184	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	5486525	38912184	159110246	88	89248											
ZNF197	10168	broad.mit.edu	37	chr3	44684748	44684748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaagccatatgaatgtcGagagtgtgggaaaaccttta	14	9	13	5	1	0	3	0	1	0	2	1	6	0	4	2	2	2	0	2	2	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:44684748G>A	ENST00000396058.1	+	5	2293	c.2126G>A	c.(2125-2127)cGa>cAa	p.R709Q	ZNF197_ENST00000344387.4_Missense_Mutation_p.R709Q|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	709					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TATGAATGTCGAGAGTGTGGG	0.408													43	75					0	0	0	0	A	44684748	G	A	44684748	3	1	460	1	0	0	0	0	1	0	0	0	17854	1058	37	1	2144	1	ZNF197	3	44684748	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5772564	44684748	153337682	89	89249											
IFRD2	7866	broad.mit.edu	37	chr3	50326727	50326727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagcagtgcaatggtttCaccggcagcgatccgcaggt	11	7	13	10	3	1	1	1	0	0	1	2	2	2	1	2	3	3	5	2	3	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:50326727C>T	ENST00000436390.1	-	11	1341	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	IFRD2_ENST00000417626.2_Missense_Mutation_p.E282K|IFRD2_ENST00000429673.2_Missense_Mutation_p.E346K|IFRD2_ENST00000336089.4_Missense_Mutation_p.E448K			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	346							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAATGGTTTCACCGGCAGCG	0.607													6	4					0	0	0	0	T	50326727	C	T	50326727	3	4	460	1	0	0	0	0	1	0	0	0	7607	835	29	2	504	2	IFRD2	3	50326727	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	5641979	50326727	147695703	90	89250											
TKT	7086	broad.mit.edu	37	chr3	53263450	53263450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacagcccaccgcgatgctCacctgggggcaggtgggaca	8	4	15	14	2	1	0	1	0	0	0	1	2	1	1	3	4	2	3	3	4	0	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:53263450C>T	ENST00000462138.1	-	9	1198	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	TKT_ENST00000423516.1_Silent_p.V378V|TKT_ENST00000423525.2_Silent_p.V370V|TKT_ENST00000296289.6_Silent_p.V323V|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	370					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCGCGATGCTCACCTGGGGGC	0.612													13	4					0	0	0	0	T	53263450	C	T	53263450	2	4	460	1	0	0	0	0	0	0	0	1	16028	813	29	2		2	TKT	3	53263450	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2936723	53263450	144758980	91	89251											
ACTR8	93973	broad.mit.edu	37	chr3	53905447	53905447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagtctttctggaagatcaGaggactggccacgaagatcc	11	8	13	9	1	3	3	1	0	2	3	4	7	4	6	2	4	0	0	2	4	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:53905447G>A	ENST00000335754.3	-	11	1479	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	ACTR8_ENST00000482349.1_Missense_Mutation_p.S349F|ACTR8_ENST00000231909.7_Missense_Mutation_p.S165F	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	460					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGGAAGATCAGAGGACTGGCC	0.507													49	46					0	0	0	0	A	53905447	G	A	53905447	3	1	460	1	0	0	0	0	1	0	0	0	217	942	33	2	507	2	ACTR8	3	53905447	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	641997	53905447	144116983	92	89252											
FILIP1L	11259	broad.mit.edu	37	chr3	99567229	99567229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttttgtttagtgccccGttaattaagccttgagttcg	6	18	10	7	2	0	1	0	1	0	0	1	1	0	1	3	0	2	5	3	0	3	9			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:99567229G>A	ENST00000331335.5	-	5	3761	c.3291C>T	c.(3289-3291)aaC>aaT	p.N1097N	FILIP1L_ENST00000487087.1_Silent_p.N673N|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.N857N|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Silent_p.N1097N|FILIP1L_ENST00000383694.2_Silent_p.N857N|FILIP1L_ENST00000476723.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1097						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTAGTGCCCCGTTAATTAAGC	0.453													13	253					0	0	0	0	A	99567229	G	A	99567229	2	1	460	1	0	0	0	0	0	0	0	1	5940	1136	40	1		1	FILIP1L	3	99567229	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	45661782	99567229	98455201	93	89253											
PVRL3	25945	broad.mit.edu	37	chr3	110830990	110830990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccataacacagatttcatggGagaagatacatggcaaaagt	17	8	9	7	0	1	3	1	0	0	3	1	4	1	3	1	2	2	1	1	2	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:110830990G>C	ENST00000485303.1	+	2	549	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	PVRL3_ENST00000493615.1_Missense_Mutation_p.E69Q|PVRL3_ENST00000319792.3_Missense_Mutation_p.E92Q|PVRL3_ENST00000488016.1_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	92	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GATTTCATGGGAGAAGATACA	0.373													33	86					0	0	0	0	C	110830990	G	C	110830990	3	2	460	1	0	0	0	0	1	0	0	0	12923	1175	41	2	280	2	PVRL3	3	110830990	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	11263761	110830990	87191440	94	89254											
SLC35A5	55032	broad.mit.edu	37	chr3	112299571	112299571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtgagtgtcccagaaaaGacaattgtacagcaaaggaa	18	6	11	6	0	0	3	0	1	0	2	1	5	1	4	1	1	2	2	1	1	7	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:112299571G>C	ENST00000492406.1	+	6	890	c.607G>C	c.(607-609)Gac>Cac	p.D203H	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	203						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TCCCAGAAAAGACAATTGTAC	0.448													49	110					0	0	0	0	C	112299571	G	C	112299571	3	2	460	1	0	0	0	0	1	0	0	0	14662	942	33	2	625	2	SLC35A5	3	112299571	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1468581	112299571	85722859	95	89255											
TMEM39A	55254	broad.mit.edu	37	chr3	119176976	119176976	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgaaaaaaaggaattcAaagagtaggctcccatccac	18	7	8	8	0	1	3	1	1	0	2	3	4	3	4	2	2	0	2	2	2	7	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:119176976A>G	ENST00000319172.5	-	3	645	c.225T>C	c.(223-225)ttT>ttC	p.F75F	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	75						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AAAGGAATTCAAAGAGTAGGC	0.433													41	167					0	0	0	0	G	119176976	A	G	119176976	2	3	460	1	0	0	0	0	0	0	0	1	16255	127	5	5		5	TMEM39A	3	119176976	Silent	SNP	A	TCGA-P3-A5QF-01A-11D-A28R-08	6877405	119176976	78845454	96	89256											
PARP9	83666	broad.mit.edu	37	chr3	122247306	122247306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcttgtgactgtacatattCctgggtgcatgtccacaaat	10	14	8	9	0	1	1	0	1	1	0	3	1	3	1	2	1	2	2	2	1	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122247306C>G	ENST00000360356.2	-	11	2697	c.2470G>C	c.(2470-2472)Gaa>Caa	p.E824Q	PARP9_ENST00000477522.2_Missense_Mutation_p.E789Q|PARP9_ENST00000492382.1_Missense_Mutation_p.E369Q|PARP9_ENST00000471785.1_Missense_Mutation_p.E789Q	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	824	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGTACATATTCCTGGGTGCAT	0.463													93	69					0	0	0	0	G	122247306	C	G	122247306	3	3	460	1	0	0	0	0	1	0	0	0	11537	864	30	2	98	2	PARP9	3	122247306	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3070330	122247306	75775124	97	89257											
PARP9	83666	broad.mit.edu	37	chr3	122259339	122259339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaacgagcgccaaaggcctCgctcctttttccttgccatt	7	12	7	15	3	0	0	0	0	0	0	3	1	2	0	5	1	3	1	5	1	2	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122259339C>T	ENST00000462315.1	-	8	2038	c.1745G>A	c.(1744-1746)cGa>cAa	p.R582Q	PARP9_ENST00000477522.2_Missense_Mutation_p.R582Q|PARP9_ENST00000360356.2_Missense_Mutation_p.R617Q|PARP9_ENST00000492382.1_Missense_Mutation_p.R162Q|PARP9_ENST00000471785.1_Missense_Mutation_p.R582Q	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	617					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCAAAGGCCTCGCTCCTTTTT	0.428													35	33					0	0	0	0	T	122259339	C	T	122259339	3	4	460	1	0	0	0	0	1	0	0	0	11537	884	31	1	783	1	PARP9	3	122259339	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	12033	122259339	75763091	98	89258											
DIRC2	84925	broad.mit.edu	37	chr3	122525786	122525786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atacctatatcagacttaatCcttaaaagaaggtaaatcct	17	12	4	8	0	1	2	1	0	0	2	3	2	3	2	3	1	1	1	3	1	9	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122525786C>G	ENST00000261038.5	+	2	824	c.426C>G	c.(424-426)atC>atG	p.I142M		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	142					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CAGACTTAATCCTTAAAAGAA	0.328													6	81					0	0	0	0	G	122525786	C	G	122525786	3	3	460	1	0	0	0	0	1	0	0	0	4571	845	30	2	432	2	DIRC2	3	122525786	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	266447	122525786	75496644	99	89259											
TMCC1	23023	broad.mit.edu	37	chr3	129546877	129546877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaagcttgtccctctcttCatcttgggtggcactcgaat	6	14	9	12	1	3	0	1	0	2	0	6	1	4	0	1	2	2	3	1	2	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:129546877C>T	ENST00000393238.3	-	3	685	c.345G>A	c.(343-345)atG>atA	p.M115I	TMCC1_ENST00000426664.2_Start_Codon_SNP_p.M1I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	115						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCCCTCTCTTCATCTTGGGTG	0.547													86	82					0	0	0	0	T	129546877	C	T	129546877	3	4	460	1	0	0	0	0	1	0	0	0	16086	826	29	2	1632	2	TMCC1	3	129546877	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7021091	129546877	68475553	100	89260											
ATP2C1	27032	broad.mit.edu	37	chr3	130720094	130720094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttgggtctcacctcatCagtgtgcatagtggcagaaa	9	13	10	9	0	4	1	3	0	2	1	5	1	4	1	1	2	1	2	1	2	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:130720094C>T	ENST00000510168.1	+	28	3210	c.2660C>T	c.(2659-2661)tCa>tTa	p.S887L	ATP2C1_ENST00000508532.1_Missense_Mutation_p.S887L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S832L|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S882L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S887L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S887L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S921L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S887L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S871L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S871L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	887					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTCACCTCATCAGTGTGCATA	0.363									Hailey-Hailey disease				15	64					0	0	0	0	T	130720094	C	T	130720094	3	4	460	1	0	0	0	0	1	0	0	0	1147	838	29	2	2766	2	ATP2C1	3	130720094	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1173217	130720094	67302336	101	89261											
CEP63	80254	broad.mit.edu	37	chr3	134265047	134265047	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcagtctcaagaaaatctCatacatgaggccagaataca	16	9	6	10	0	3	3	3	1	2	2	5	3	3	3	1	1	2	0	1	1	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:134265047C>G	ENST00000337090.3	+	8	1019	c.846C>G	c.(844-846)ctC>ctG	p.L282L	CEP63_ENST00000383229.3_Silent_p.L282L|CEP63_ENST00000354446.3_Silent_p.L282L|CEP63_ENST00000332047.5_Silent_p.L282L|CEP63_ENST00000513612.2_Silent_p.L282L|CEP63_ENST00000606977.1_Silent_p.L282L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	282					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGAAAATCTCATACATGAGG	0.328													75	57					0	0	0	0	G	134265047	C	G	134265047	2	3	460	1	0	0	0	0	0	0	0	1	3286	813	29	2		2	CEP63	3	134265047	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3544953	134265047	63757383	102	89262											
VEPH1	79674	broad.mit.edu	37	chr3	157131748	157131748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctctcaccaatctctttCagcattggaagaaaactgtt	13	13	5	10	0	4	1	2	0	2	1	6	2	4	2	1	1	2	2	1	1	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:157131748C>T	ENST00000362010.2	-	6	1135	c.828G>A	c.(826-828)ctG>ctA	p.L276L	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Silent_p.L276L|VEPH1_ENST00000392833.2_Silent_p.L276L|VEPH1_ENST00000543418.1_Silent_p.L276L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	276						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAATCTCTTTCAGCATTGGAA	0.433													123	72					0	0	0	0	T	157131748	C	T	157131748	2	4	460	1	0	0	0	0	0	0	0	1	17250	813	29	2		2	VEPH1	3	157131748	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	22866701	157131748	40890682	103	89263											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			53	28					0	0	0	0	A	178936091	G	A	178936091	3	1	460	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	21804343	178936091	19086339	104	89264											
ABCC5	10057	broad.mit.edu	37	chr3	183679424	183679424	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcatgaagatcacttCatcacagtcaaccaggtact	12	12	5	12	0	6	2	5	1	1	1	6	2	6	2	1	1	2	1	1	1	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:183679424C>A	ENST00000334444.6	-	16	2494	c.2254G>T	c.(2254-2256)Gaa>Taa	p.E752*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.E752*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	752	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAGATCACTTCATCACAGTCA	0.388													106	67					1.76042e-48	1.86474e-48	1	0	A	183679424	C	A	183679424	4	1	460	1	0	0	0	0	0	1	0	0	56	835	29	2	2119	2	ABCC5	3	183679424	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4743333	183679424	14343006	105	89265											
ABCC5	10057	broad.mit.edu	37	chr3	183681353	183681353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctggcgctgcccaccgctCaggttggctcctcgctctcc	2	10	10	19	3	3	0	1	0	2	0	6	0	4	0	4	3	1	5	4	3	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:183681353C>T	ENST00000334444.6	-	15	2295	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	ABCC5_ENST00000265586.6_Silent_p.L685L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	685	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCACCGCTCAGGTTGGCTC	0.597													86	75					0	0	0	0	T	183681353	C	T	183681353	2	4	460	1	0	0	0	0	0	0	0	1	56	813	29	2		2	ABCC5	3	183681353	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1929	183681353	14341077	106	89266											
MAP3K13	9175	broad.mit.edu	37	chr3	185183554	185183554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatgcgctggatattcgtGaacactatgagcggaagctt	10	10	13	8	3	0	2	0	2	0	0	1	4	0	4	0	3	4	3	0	3	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185183554G>C	ENST00000265026.3	+	9	1742	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	MAP3K13_ENST00000424227.1_Missense_Mutation_p.E470Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E326Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.E263Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E326Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	470					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGATATTCGTGAACACTATGA	0.468													9	269					0	0	0	0	C	185183554	G	C	185183554	3	2	460	1	0	0	0	0	1	0	0	0	9316	1291	45	2	1438	2	MAP3K13	3	185183554	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1502201	185183554	12838876	107	89267											
MAP3K13	9175	broad.mit.edu	37	chr3	185183641	185183641	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctagaaatgcgggagaagGagctcattaagtatgtatcc	14	9	12	6	1	1	2	1	0	0	2	2	4	2	3	1	2	3	4	1	2	6	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185183641G>T	ENST00000265026.3	+	9	1829	c.1495G>T	c.(1495-1497)Gag>Tag	p.E499*	MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E499*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E355*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E292*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E355*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	499	Leucine-zipper 2.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCGGGAGAAGGAGCTCATTAA	0.438													5	157					0.014758	0.0147838	1	0	T	185183641	G	T	185183641	4	4	460	1	0	0	0	0	0	1	0	0	9316	1175	41	2	1525	2	MAP3K13	3	185183641	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	87	185183641	12838789	108	89268											
MAP3K13	9175	broad.mit.edu	37	chr3	185184658	185184658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatcctgggacctacaaacGacaccctgttcgtcctatca	10	10	7	14	2	1	0	1	0	0	0	4	2	3	1	4	1	2	2	4	1	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185184658G>A	ENST00000265026.3	+	10	1884	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	MAP3K13_ENST00000424227.1_Missense_Mutation_p.R517Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R373Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R310Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R373Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	517			R -> G (in dbSNP:rs56408536).		activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCTACAAACGACACCCTGTT	0.488													6	161					0	0	0	0	A	185184658	G	A	185184658	3	1	460	1	0	0	0	0	1	0	0	0	9316	1058	37	1	1584	1	MAP3K13	3	185184658	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1017	185184658	12837772	109	89269											
CLDN16	10686	broad.mit.edu	37	chr3	190106165	190106165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcttctttgcctttttctCtgctgggtttttgattgtgg	1	23	10	7	0	2	1	0	1	2	0	3	1	2	1	1	2	3	3	1	2	0	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:190106165C>T	ENST00000264734.2	+	1	505	c.257C>T	c.(256-258)tCt>tTt	p.S86F	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.S86F	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	86					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GCCTTTTTCTCTGCTGGGTTT	0.502													224	132					0	0	0	0	T	190106165	C	T	190106165	3	4	460	1	0	0	0	0	1	0	0	0	3507	913	32	2	259	2	CLDN16	3	190106165	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4921507	190106165	7916265	110	89270											
SENP5	205564	broad.mit.edu	37	chr3	196612250	196612250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaaagaaagctcttcaaatCcagaaaacgtggatcaagga	19	6	9	7	1	3	3	2	0	1	3	4	5	4	5	1	2	2	1	1	2	6	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:196612250C>G	ENST00000323460.5	+	2	447	c.198C>G	c.(196-198)atC>atG	p.I66M	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.I66M	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	66					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTCTTCAAATCCAGAAAACGT	0.413													39	118					0	0	0	0	G	196612250	C	G	196612250	3	3	460	1	0	0	0	0	1	0	0	0	14136	845	30	2	200	2	SENP5	3	196612250	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6506085	196612250	1410180	111	89271											
ZNF721	170960	broad.mit.edu	37	chr4	436773	436773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggtttctcgccagtatGaatcctcttatgtttagcaa	11	14	8	8	1	2	1	0	1	2	0	4	1	3	1	2	1	1	4	2	1	6	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:436773G>T	ENST00000338977.5	-	2	1495	c.1447C>A	c.(1447-1449)Cat>Aat	p.H483N	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.H495N					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCGCCAGTATGAATCCTCTTA	0.373													29	39					2.12542e-12	2.18265e-12	1	0	T	436773	G	T	436773	3	4	460	1	0	0	0	0	1	0	0	0	18217	1290	45	2	1292	2	ZNF721	4	436773	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		436773	190717503	112	89272											
FGFR3	2261	broad.mit.edu	37	chr4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctgcccccacagagcgctCcccgcaccggcccatcctgc	6	5	8	22	3	1	1	0	0	1	1	3	1	3	1	7	1	3	2	7	1	0	0	rs121913483		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				9	18					0	0	0	0	G	1803568	C	G	1803568	3	3	460	1	0	0	0	0	1	0	0	0	5912	855	30	2	768	2	FGFR3	4	1803568	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1366795	1803568	189350708	113	89273											
KLF3	51274	broad.mit.edu	37	chr4	38698797	38698797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgaaaacatactggaatCaaacctttccagtgcccgga	13	9	7	12	2	1	0	1	0	0	0	3	3	3	2	4	2	4	0	4	2	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:38698797C>G	ENST00000261438.5	+	6	1256	c.951C>G	c.(949-951)atC>atG	p.I317M		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	317					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATACTGGAATCAAACCTTTCC	0.488													74	121					0	0	0	0	G	38698797	C	G	38698797	3	3	460	1	0	0	0	0	1	0	0	0	8399	816	29	2	969	2	KLF3	4	38698797	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	36895229	38698797	152455479	114	89274											
ATP10D	57205	broad.mit.edu	37	chr4	47548694	47548694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaagatgaagattttataGacacagtcagtggttccctc	12	12	9	8	0	1	5	1	2	0	3	3	5	2	5	1	1	0	1	1	1	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:47548694G>C	ENST00000273859.3	+	10	1719	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	ATP10D_ENST00000504445.1_Missense_Mutation_p.D469H	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	484					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGATTTTATAGACACAGTCAG	0.473													63	69					0	0	0	0	C	47548694	G	C	47548694	3	2	460	1	0	0	0	0	1	0	0	0	1122	942	33	2	1484	2	ATP10D	4	47548694	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	8849897	47548694	143605582	115	89275											
FRYL	285527	broad.mit.edu	37	chr4	48559474	48559474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaaactcattttacctttGctgtcatatacatcagattg	13	15	4	9	0	3	1	3	0	0	1	3	1	3	1	1	0	4	1	1	0	5	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:48559474G>T	ENST00000358350.4	-	34	4725	c.4121C>A	c.(4120-4122)gCa>gAa	p.A1374E	FRYL_ENST00000507711.1_Missense_Mutation_p.A1374E|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.A1374E|FRYL_ENST00000537810.1_Missense_Mutation_p.A1374E|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1374					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTTACCTTTGCTGTCATATA	0.403													34	76					5.8336e-16	6.078e-16	1	0	T	48559474	G	T	48559474	3	4	460	1	0	0	0	0	1	0	0	0	6112	1319	46	4	5044	4	FRYL	4	48559474	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1010780	48559474	142594802	116	89276											
SCFD2	152579	broad.mit.edu	37	chr4	54218834	54218834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtatggagtgcagtgagcGctatcatgttaaccatcaca	12	10	10	9	1	2	1	2	1	0	0	2	2	2	2	1	1	3	4	1	1	3	3	rs147606542	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:54218834G>A	ENST00000401642.3	-	2	1071	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SCFD2_ENST00000388940.4_Missense_Mutation_p.A313V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	313					protein transport|vesicle docking involved in exocytosis			p.A313V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCAGTGAGCGCTATCATGTT	0.428													24	40					0	0	0	0	A	54218834	G	A	54218834	3	1	460	1	0	0	0	0	1	0	0	0	13976	1087	38	1	1148	1	SCFD2	4	54218834	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5659360	54218834	136935442	117	89277											
AASDH	132949	broad.mit.edu	37	chr4	57204723	57204723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgagattccaagatccAcactttcccatcagtagatg	12	11	6	12	0	2	3	1	1	1	3	5	4	5	3	3	0	0	1	3	0	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:57204723A>G	ENST00000205214.6	-	15	3322	c.3142T>C	c.(3142-3144)Tgg>Cgg	p.W1048R	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.W948R|AASDH_ENST00000434343.2_Missense_Mutation_p.W563R	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1048					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCCAAGATCCACACTTTCCCA	0.433													34	46					0	0	0	0	G	57204723	A	G	57204723	3	3	460	1	0	0	0	0	1	0	0	0	22	159	6	5	158	5	AASDH	4	57204723	Missense_Mutation	SNP	A	TCGA-P3-A5QF-01A-11D-A28R-08	2985889	57204723	133949553	118	89278											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68930409	68930409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaactgctcaccatcatCtacaatggatccaaatcctg	13	11	5	12	0	3	1	2	1	1	0	5	2	5	2	3	1	3	1	3	1	4	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:68930409C>T	ENST00000356291.2	-	8	1068	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	337	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCACCATCATCTACAATGGAT	0.368													30	41					0	0	0	0	T	68930409	C	T	68930409	3	4	460	1	0	0	0	0	1	0	0	0	16337	913	32	2	319	2	TMPRSS11F	4	68930409	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	11725686	68930409	122223867	119	89279											
ADAMTS3	9508	broad.mit.edu	37	chr4	73148854	73148854	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctttttggttcactttctCatctttctaaggtggatgat	6	19	8	8	0	4	1	2	1	3	0	5	2	4	2	1	3	0	1	1	3	1	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:73148854C>G	ENST00000286657.4	-	22	3653	c.3617G>C	c.(3616-3618)tGa>tCa	p.*1206S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	0					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCACTTTCTCATCTTTCTAA	0.413													6	76					0	0	0	0	G	73148854	C	G	73148854	4	3	460	1	0	0	0	0	0	0	0	0	267	837	29	2	4	2	ADAMTS3	4	73148854	Nonstop_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4218445	73148854	118005422	120	89280											
FRAS1	80144	broad.mit.edu	37	chr4	79297016	79297016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcttttctgtccacacctCtaatgaaacatgttctggta	9	15	7	10	0	3	1	0	1	3	0	4	1	4	1	2	2	1	3	2	2	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:79297016C>G	ENST00000264895.6	+	26	3715	c.3275C>G	c.(3274-3276)tCt>tGt	p.S1092C	FRAS1_ENST00000325942.6_Missense_Mutation_p.S1092C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1091					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTCCACACCTCTAATGAAACA	0.448													10	24					0	0	0	0	G	79297016	C	G	79297016	3	3	460	1	0	0	0	0	1	0	0	0	6089	913	32	2	3377	2	FRAS1	4	79297016	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6148162	79297016	111857260	121	89281											
FRAS1	80144	broad.mit.edu	37	chr4	79362387	79362387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgatgatgacaacctccaGagagatgccatcattaaact	15	9	8	9	0	1	5	1	3	0	2	2	7	2	5	3	0	3	0	3	0	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:79362387G>A	ENST00000264895.6	+	41	6041	c.5601G>A	c.(5599-5601)caG>caA	p.Q1867Q	FRAS1_ENST00000325942.6_Silent_p.Q1867Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1866					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAACCTCCAGAGAGATGCCA	0.423													11	25					0	0	0	0	A	79362387	G	A	79362387	2	1	460	1	0	0	0	0	0	0	0	1	6089	933	33	2		2	FRAS1	4	79362387	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	65371	79362387	111791889	122	89282											
NKX6-1	4825	broad.mit.edu	37	chr4	85414537	85414537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caacagctgcgtgattttctCgtcgtccgagttgggatcca	7	12	11	11	4	1	1	0	1	1	0	5	3	3	2	2	1	3	2	2	1	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:85414537C>G	ENST00000295886.4	-	3	1230	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	NKX6-1_ENST00000515820.2_Missense_Mutation_p.E63Q	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	337	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GTGATTTTCTCGTCGTCCGAG	0.617													58	80					0	0	0	0	G	85414537	C	G	85414537	3	3	460	1	0	0	0	0	1	0	0	0	10527	893	31	3	98	3	NKX6-1	4	85414537	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6052150	85414537	105739739	123	89283											
MANBA	4126	broad.mit.edu	37	chr4	103578858	103578858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttttctaatgtactgaagGacggccaggactgatatcca	11	11	9	10	1	1	2	0	2	1	0	2	4	2	4	3	3	1	1	3	3	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:103578858G>A	ENST00000226578.4	-	12	1784	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	MANBA_ENST00000505239.1_Missense_Mutation_p.S505F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	562					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGTACTGAAGGACGGCCAGGA	0.373													34	44					0	0	0	0	A	103578858	G	A	103578858	3	1	460	1	0	0	0	0	1	0	0	0	9288	1174	41	2	978	2	MANBA	4	103578858	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	18164321	103578858	87575418	124	89284											
NR3C2	4306	broad.mit.edu	37	chr4	149356742	149356742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcttgctttattggtactGagaatgaagaatccgaattt	12	16	8	5	1	1	3	0	2	1	2	2	5	2	3	1	1	2	2	1	1	6	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:149356742G>A	ENST00000355292.3	-	2	1633	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	NR3C2_ENST00000358102.3_Missense_Mutation_p.S424L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S424L|NR3C2_ENST00000342437.4_Missense_Mutation_p.S424L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S424L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S424L			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	424	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TATTGGTACTGAGAATGAAGA	0.388													8	97					0	0	0	0	A	149356742	G	A	149356742	3	1	460	1	0	0	0	0	1	0	0	0	10702	1294	45	2	1715	2	NR3C2	4	149356742	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	45777884	149356742	41797534	125	89285											
NR3C2	4306	broad.mit.edu	37	chr4	149356782	149356782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattttgctatttcctcctaGacatgagctgctaaaagctc	10	15	6	10	0	0	2	0	1	0	1	3	2	2	2	2	0	4	4	2	0	5	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:149356782G>C	ENST00000355292.3	-	2	1593	c.1231C>G	c.(1231-1233)Cta>Gta	p.L411V	NR3C2_ENST00000358102.3_Missense_Mutation_p.L411V|NR3C2_ENST00000512865.1_Missense_Mutation_p.L411V|NR3C2_ENST00000342437.4_Missense_Mutation_p.L411V|NR3C2_ENST00000344721.4_Missense_Mutation_p.L411V|NR3C2_ENST00000511528.1_Missense_Mutation_p.L411V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	411	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTCCTCCTAGACATGAGCTG	0.403													8	110					0	0	0	0	C	149356782	G	C	149356782	3	2	460	1	0	0	0	0	1	0	0	0	10702	933	33	2	1755	2	NR3C2	4	149356782	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	40	149356782	41797494	126	89286											
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	14	7	8	12	2	2	2	0	0	2	2	3	3	2	2	2	1	4	2	2	1	5	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								5	101					0	0	0	0	T	153247366	C	T	153247366	3	4	460	1	0	0	0	0	1	0	0	0	5814	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3890584	153247366	37906910	127	89287											
DCHS2	54798	broad.mit.edu	37	chr4	155219431	155219431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaaccctggatgctaCagtctctggccacagcacta	9	10	9	13	1	1	1	0	1	1	0	3	2	1	2	2	2	4	2	2	2	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:155219431C>G	ENST00000357232.3	-	18	4669	c.4670G>C	c.(4669-4671)tGt>tCt	p.C1557S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1557	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGATGCTACAGTCTCTGGC	0.438													38	91					0	0	0	0	G	155219431	C	G	155219431	3	3	460	1	0	0	0	0	1	0	0	0	4320	478	17	4	4112	4	DCHS2	4	155219431	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1972065	155219431	35934845	128	89288											
DCHS2	54798	broad.mit.edu	37	chr4	155226327	155226327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccagtgtcagaatttatctCgaataattcaaatgaagcac	15	12	6	8	1	3	2	2	1	1	1	5	3	4	2	1	0	1	1	1	0	6	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:155226327C>G	ENST00000357232.3	-	16	3951	c.3952G>C	c.(3952-3954)Gag>Cag	p.E1318Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1318	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATTTATCTCGAATAATTCA	0.368													11	20					0	0	0	0	G	155226327	C	G	155226327	3	3	460	1	0	0	0	0	1	0	0	0	4320	893	31	3	4838	3	DCHS2	4	155226327	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6896	155226327	35927949	129	89289											
GUCY1B3	2983	broad.mit.edu	37	chr4	156710944	156710944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttaggtgcactgatgcaGaaaagggcaaaggactcatt	13	9	11	8	0	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:156710944G>C	ENST00000264424.8	+	5	458	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E58Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E126Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E58Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E106Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E148Q|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E58Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	126					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACTGATGCAGAAAAGGGCAA	0.468													40	90					0	0	0	0	C	156710944	G	C	156710944	3	2	460	1	0	0	0	0	1	0	0	0	6945	943	33	2	394	2	GUCY1B3	4	156710944	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1484617	156710944	34443332	130	89290											
GUCY1B3	2983	broad.mit.edu	37	chr4	156710980	156710980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattttgcactactactcaGagagagaaggacttcaggat	13	11	9	8	0	3	2	3	0	0	2	3	6	3	4	0	2	3	1	0	2	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:156710980G>C	ENST00000264424.8	+	5	494	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E70Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E138Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E70Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E118Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E160Q|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E70Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	138					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTACTACTCAGAGAGAGAAGG	0.453													40	89					0	0	0	0	C	156710980	G	C	156710980	3	2	460	1	0	0	0	0	1	0	0	0	6945	943	33	2	430	2	GUCY1B3	4	156710980	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	36	156710980	34443296	131	89291											
WWC2	80014	broad.mit.edu	37	chr4	184210761	184210761	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaggatgagaggttccaGaggcttctgaagcaagctga	11	8	15	7	0	1	4	0	3	1	2	2	7	2	6	1	4	2	4	1	4	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:184210761G>C	ENST00000403733.3	+	21	3556	c.3357G>C	c.(3355-3357)caG>caC	p.Q1119H	WWC2_ENST00000508747.1_Missense_Mutation_p.Q247H|WWC2_ENST00000504005.1_Missense_Mutation_p.Q801H|WWC2_ENST00000513834.1_Missense_Mutation_p.Q1070H|WWC2_ENST00000448232.2_Missense_Mutation_p.Q1143H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1119										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGAGGTTCCAGAGGCTTCTGA	0.557													40	64					0	0	0	0	C	184210761	G	C	184210761	3	2	460	1	0	0	0	0	1	0	0	0	17508	933	33	2	3439	2	WWC2	4	184210761	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	27499781	184210761	6943515	132	89292											
HELT	391723	broad.mit.edu	37	chr4	185940936	185940936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaggcggagatcctcgaGatgaccgttcagtacctgag	11	7	14	9	3	1	5	1	2	0	3	3	8	2	5	3	2	1	2	3	2	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:185940936G>C	ENST00000338875.4	+	3	423	c.423G>C	c.(421-423)gaG>gaC	p.E141D	HELT_ENST00000515777.1_Missense_Mutation_p.E56D|HELT_ENST00000505610.1_Missense_Mutation_p.E56D	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	141	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGATCCTCGAGATGACCGTTC	0.642													3	53					0	0	0	0	C	185940936	G	C	185940936	3	2	460	1	0	0	0	0	1	0	0	0	7098	933	33	2	433	2	HELT	4	185940936	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1730175	185940936	5213340	133	89293											
IRX1	79192	broad.mit.edu	37	chr5	3599488	3599488	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgagagcaccagcacgctCaaggcctggctcaacgagca	11	3	12	15	4	2	1	2	0	0	1	2	3	2	1	2	2	4	5	2	2	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:3599488C>G	ENST00000302006.3	+	2	478	c.426C>G	c.(424-426)ctC>ctG	p.L142L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	142						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAGCACGCTCAAGGCCTGGC	0.637													39	63					0	0	0	0	G	3599488	C	G	3599488	2	3	460	1	0	0	0	0	0	0	0	1	7896	813	29	2		2	IRX1	5	3599488	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		3599488	177315772	134	89294											
FASTKD3	79072	broad.mit.edu	37	chr5	7868154	7868154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctatgcatctgaaaatCagataaacgataaaggttct	16	11	7	7	1	4	2	1	1	3	1	4	3	4	2	0	1	3	3	0	1	7	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:7868154C>T	ENST00000264669.5	-	2	179	c.43G>A	c.(43-45)Gat>Aat	p.D15N	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	15					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCTGAAAATCAGATAAACGA	0.348													32	41					0	0	0	0	T	7868154	C	T	7868154	3	4	460	1	0	0	0	0	1	0	0	0	5732	826	29	2	1969	2	FASTKD3	5	7868154	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4268666	7868154	173047106	135	89295											
MYO10	4651	broad.mit.edu	37	chr5	16671030	16671039	+	Frame_Shift_Del	DEL	GAACCTGGAG	GAACCTGGAG	-																															ctggagtcgcagggcagcaaGaacctggaggttttcttccg																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:16671030_16671039delGAACCTGGAG	ENST00000513610.1	-	39	5933_5942	c.5479_5488delCTCCAGGTTC	c.(5479-5490)ttfs	p.LQVL1827fs	MYO10_ENST00000427430.2_Frame_Shift_Del_p.LQVL1184fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.LQVL1166fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.LQVL1166fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.LQVL1184fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1827	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGCAGCAAGAACCTGGAGGTTTTCTTCC	0.576													12	38	---	---	---	---					-	16671039	GAACCTGGAG	-	16671030	7	5	460	1	0	1	0	1	0	0	0	0	10132	942	33	0	700	0	MYO10	5	16671030	Frame_Shift_Del	DEL	GAACCTGGAG	TCGA-P3-A5QF-01A-11D-A28R-08	8802876	16671030	164244230	136	89296											
MAP3K1	4214	broad.mit.edu	37	chr5	56174863	56174863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagtttagcggaaagaatCaaacttcagagacttctcca	15	9	7	10	1	3	2	2	0	1	2	4	4	3	3	1	1	2	1	1	1	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:56174863C>G	ENST00000399503.3	+	11	2022	c.2022C>G	c.(2020-2022)atC>atG	p.I674M		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	674					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CGGAAAGAATCAAACTTCAGA	0.393													13	76					0	0	0	0	G	56174863	C	G	56174863	3	3	460	1	0	0	0	0	1	0	0	0	9312	816	29	2	2064	2	MAP3K1	5	56174863	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	39503833	56174863	124740397	137	89297											
AP3B1	8546	broad.mit.edu	37	chr5	77298846	77298846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttccactgtgactagcatCaatgacccactgtgcacagt	11	10	8	12	0	1	2	1	2	0	0	2	2	2	2	2	0	2	3	2	0	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:77298846C>T	ENST00000255194.6	-	27	3340	c.3165G>A	c.(3163-3165)ttG>ttA	p.L1055L	AP3B1_ENST00000519295.1_Silent_p.L1006L	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1055					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGACTAGCATCAATGACCCAC	0.448									Hermansky-Pudlak syndrome				42	23					0	0	0	0	T	77298846	C	T	77298846	2	4	460	1	0	0	0	0	0	0	0	1	745	825	29	2		2	AP3B1	5	77298846	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	21123983	77298846	103616414	138	89298											
ZFYVE16	9765	broad.mit.edu	37	chr5	79741145	79741145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatattgcccaatggtgaagTtgcagatacaacaaaattat	16	12	7	6	0	0	2	0	1	0	1	0	2	0	2	1	1	4	2	1	1	9	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:79741145T>C	ENST00000338008.5	+	6	2825	c.2645T>C	c.(2644-2646)gTt>gCt	p.V882A	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V882A|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V882A	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	882					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AATGGTGAAGTTGCAGATACA	0.358													36	9					0	0	0	0	C	79741145	T	C	79741145	3	2	460	1	0	0	0	0	1	0	0	0	17759	1725	60	5	2663	5	ZFYVE16	5	79741145	Missense_Mutation	SNP	T	TCGA-P3-A5QF-01A-11D-A28R-08	2442299	79741145	101174115	139	89299											
ZCCHC9	84240	broad.mit.edu	37	chr5	80604854	80604854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccaaaggactctatgctGatggtaagtactgttaccct	11	12	8	10	0	1	1	0	1	1	0	2	2	2	2	2	2	3	4	2	2	5	4	rs148607166	by1000genomes	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:80604854G>A	ENST00000254037.2	+	3	3780	c.625G>A	c.(625-627)Gat>Aat	p.D209N	ZCCHC9_ENST00000380199.5_Missense_Mutation_p.D209N|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.D209N|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.D209N|ZCCHC9_ENST00000506458.1_3'UTR			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	209							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		ACTCTATGCTGATGGTAAGTA	0.373													24	17					0	0	0	0	A	80604854	G	A	80604854	3	1	460	1	0	0	0	0	1	0	0	0	17690	1290	45	2	635	2	ZCCHC9	5	80604854	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	863709	80604854	100310406	140	89300											
AFF4	27125	broad.mit.edu	37	chr5	132270026	132270026	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaacattgaattggactttGacatcaatgagggtgggaaa	14	11	12	4	0	1	3	1	3	0	0	1	5	1	5	0	3	1	1	0	3	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:132270026G>C	ENST00000265343.5	-	3	1110	c.731C>G	c.(730-732)tCa>tGa	p.S244*	AFF4_ENST00000378595.3_Nonsense_Mutation_p.S244*|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	244	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTGGACTTTGACATCAATGA	0.507													49	22					0	0	0	0	C	132270026	G	C	132270026	4	2	460	1	0	0	0	0	0	1	0	0	359	1294	45	2	2836	2	AFF4	5	132270026	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	51665172	132270026	48645234	141	89301											
PCDHB15	56121	broad.mit.edu	37	chr5	140626769	140626769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgcggcttcccggcgctGagcagcgaggcgctggtgcg	4	5	18	14	7	0	1	0	1	0	0	1	3	1	1	2	4	3	4	2	4	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:140626769G>A	ENST00000231173.3	+	1	1623	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCGGCGCTGAGCAGCGAGG	0.692													64	34					0	0	0	0	A	140626769	G	A	140626769	2	1	460	1	0	0	0	0	0	0	0	1	11611	1277	45	2		2	PCDHB15	5	140626769	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	8356743	140626769	40288491	142	89302											
JAKMIP2	9832	broad.mit.edu	37	chr5	147020328	147020328	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatgaggccatggatGatgtctctgaatccatagag	12	12	10	7	0	2	4	0	3	2	1	4	5	3	5	2	2	0	0	2	2	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:147020328G>T	ENST00000265272.5	-	9	1807	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*	JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.S405*|JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.S447*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	447						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGATGATGTCTCTGA	0.428													27	28					4.72057e-08	4.82173e-08	1	0	T	147020328	G	T	147020328	4	4	460	1	0	0	0	0	0	1	0	0	7994	1294	45	2	1144	2	JAKMIP2	5	147020328	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6393559	147020328	33894932	143	89303											
ZNF300	91975	broad.mit.edu	37	chr5	150276386	150276386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagagtttgtcttgattctCtagaaatctctgcagctgac	10	14	9	8	0	3	4	0	2	3	2	5	5	3	4	0	0	2	3	0	0	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150276386C>G	ENST00000446148.2	-	7	890	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.E139Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.E103Q|ZNF300_ENST00000274599.5_Missense_Mutation_p.E139Q	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTGATTCTCTAGAAATCTC	0.403													44	48					0	0	0	0	G	150276386	C	G	150276386	3	3	460	1	0	0	0	0	1	0	0	0	17926	922	32	2	1403	2	ZNF300	5	150276386	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3256058	150276386	30638874	144	89304											
ZNF300	91975	broad.mit.edu	37	chr5	150276465	150276465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcccttgtgactcctttCagtatcttatgatggaagga	9	14	8	10	0	2	2	1	2	1	0	4	4	4	4	3	2	0	1	3	2	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150276465C>T	ENST00000446148.2	-	7	811	c.384G>A	c.(382-384)ctG>ctA	p.L128L	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Silent_p.L112L|ZNF300_ENST00000418587.2_Silent_p.L76L|ZNF300_ENST00000274599.5_Silent_p.L112L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACTCCTTTCAGTATCTTAT	0.388													15	34					0	0	0	0	T	150276465	C	T	150276465	2	4	460	1	0	0	0	0	0	0	0	1	17926	813	29	2		2	ZNF300	5	150276465	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	79	150276465	30638795	145	89305											
FAT2	2196	broad.mit.edu	37	chr5	150922984	150922984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatgatcttcaccgtgcaGaaggctactcttcctcctcc	8	11	8	14	1	3	2	1	1	2	1	6	3	6	3	4	2	2	2	4	2	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150922984G>A	ENST00000261800.5	-	9	7716	c.7704C>T	c.(7702-7704)ttC>ttT	p.F2568F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2568	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCGTGCAGAAGGCTACTC	0.463													89	64					0	0	0	0	A	150922984	G	A	150922984	2	1	460	1	0	0	0	0	0	0	0	1	5735	933	33	2		2	FAT2	5	150922984	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	646519	150922984	29992276	146	89306											
NSD1	64324	broad.mit.edu	37	chr5	176710792	176710792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttttggaattctaggaccGaatcattgatgctggtccca	9	14	9	9	1	3	1	1	1	2	0	4	4	4	3	2	3	1	1	2	3	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:176710792G>A	ENST00000439151.2	+	20	6059	c.6014G>A	c.(6013-6015)cGa>cAa	p.R2005Q	NSD1_ENST00000361032.4_Missense_Mutation_p.R1902Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1736Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R1736Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2005	SET.		R -> Q (in SOTOSS; strongly reduced enzyme activity).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCTAGGACCGAATCATTGAT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			38	27					0	0	0	0	A	176710792	G	A	176710792	3	1	460	1	0	0	0	0	1	0	0	0	10740	1058	37	1	6088	1	NSD1	5	176710792	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	25787808	176710792	4204468	147	89307											
DSP	1832	broad.mit.edu	37	chr6	7582950	7582950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagagccttctggtgaaaAtcaaagtcctggagcaagac	14	7	12	8	0	2	3	1	1	1	2	3	6	3	4	2	2	2	1	2	2	4	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:7582950A>G	ENST00000379802.3	+	24	5796	c.5455A>G	c.(5455-5457)Atc>Gtc	p.I1819V	DSP_ENST00000418664.2_Missense_Mutation_p.I1220V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1819	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTGGTGAAAATCAAAGTCCT	0.463													98	138					0	0	0	0	G	7582950	A	G	7582950	3	3	460	1	0	0	0	0	1	0	0	0	4817	101	4	5	5549	5	DSP	6	7582950	Missense_Mutation	SNP	A	TCGA-P3-A5QF-01A-11D-A28R-08		7582950	163532117	148	89308											
BMP6	654	broad.mit.edu	37	chr6	7727793	7727793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgtccccactgaccaGcgcgcaggacagcgccttcc	6	4	12	19	6	0	1	0	1	0	0	2	2	2	2	5	2	2	1	5	2	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:7727793G>C	ENST00000283147.6	+	1	764	c.605G>C	c.(604-606)aGc>aCc	p.S202T		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	202					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCACTGACCAGCGCGCAGGAC	0.662													21	22					0	0	0	0	C	7727793	G	C	7727793	3	2	460	1	0	0	0	0	1	0	0	0	1469	971	34	4	607	4	BMP6	6	7727793	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	144843	7727793	163387274	149	89309											
HIVEP1	3096	broad.mit.edu	37	chr6	12122536	12122536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacttgactgtttacctatCacaagaagtaattccatgcc	12	13	5	11	0	2	2	2	1	0	1	3	2	3	2	3	0	2	2	3	0	5	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:12122536C>T	ENST00000379388.2	+	4	2840	c.2508C>T	c.(2506-2508)atC>atT	p.I836I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	836					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTTTACCTATCACAAGAAGTA	0.413													56	91					0	0	0	0	T	12122536	C	T	12122536	2	4	460	1	0	0	0	0	0	0	0	1	7236	816	29	2		2	HIVEP1	6	12122536	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4394743	12122536	158992531	150	89310											
E2F3	1871	broad.mit.edu	37	chr6	20488383	20488383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtacccaagggcccattGaggtttacttatgtccagaa	12	10	9	10	0	0	2	0	1	0	1	1	2	1	2	3	2	2	2	3	2	6	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:20488383G>C	ENST00000346618.3	+	6	1105	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	E2F3_ENST00000535432.1_Missense_Mutation_p.E216Q	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	347					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGGGCCCATTGAGGTTTACTT	0.403													54	69					0	0	0	0	C	20488383	G	C	20488383	3	2	460	1	0	0	0	0	1	0	0	0	4904	1291	45	2	1061	2	E2F3	6	20488383	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	8365847	20488383	150626684	151	89311											
KIAA0319	9856	broad.mit.edu	37	chr6	24572864	24572864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgaagaatctgtcaccttCagctgaaatgtataatctcc	12	13	6	10	0	4	3	2	2	2	1	5	3	4	3	2	0	1	2	2	0	5	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:24572864C>T	ENST00000535378.1	-	12	2412	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	KIAA0319_ENST00000378214.3_Silent_p.L599L|KIAA0319_ENST00000430948.2_Silent_p.L554L|KIAA0319_ENST00000543707.1_Silent_p.L599L|KIAA0319_ENST00000537886.1_Silent_p.L599L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	599	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGTCACCTTCAGCTGAAATG	0.403													20	57					0	0	0	0	T	24572864	C	T	24572864	2	4	460	1	0	0	0	0	0	0	0	1	8219	813	29	2		2	KIAA0319	6	24572864	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4084481	24572864	146542203	152	89312											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217594	26217594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccataaggccaagggcaagtGaaatgattactagtcaaatc	16	8	9	8	0	1	2	1	2	0	0	2	2	1	2	2	2	1	1	2	2	7	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:26217594G>A	ENST00000303910.2	+	1	430	c.392G>A	c.(391-393)tGa>tAa	p.*131*		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	0					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AAGGGCAAGTGAAATGATTAC	0.527													17	50					0	0	0	0	A	26217594	G	A	26217594	2	1	460	1	0	0	0	0	0	0	0	1	7182	1285	45	2		2	HIST1H2AE	6	26217594	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1644730	26217594	144897473	153	89313											
ZSCAN16	80345	broad.mit.edu	37	chr6	28097584	28097584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaatgtgggaaagacttCagtgggcgcacaggtcttat	13	9	13	6	1	2	2	1	0	1	2	2	3	2	3	0	3	0	1	0	3	4	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:28097584C>T	ENST00000340487.4	+	4	1052	c.903C>T	c.(901-903)ttC>ttT	p.F301F	RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	301					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAAAGACTTCAGTGGGCGCA	0.448													25	53					0	0	0	0	T	28097584	C	T	28097584	2	4	460	1	0	0	0	0	0	0	0	1	18321	825	29	2		2	ZSCAN16	6	28097584	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1879990	28097584	143017483	154	89314											
NKAPL	222698	broad.mit.edu	37	chr6	28228324	28228324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagtttccgagagatggTgcacaaaaagacaaaagaga	18	5	11	7	1	0	3	0	0	0	3	1	6	1	3	2	1	2	2	2	1	4	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:28228324T>C	ENST00000343684.3	+	1	1227	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	392										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGAGAGATGGTGCACAAAAAG	0.373													17	37					0	0	0	0	C	28228324	T	C	28228324	3	2	460	1	0	0	0	0	1	0	0	0	10510	1696	59	5	1177	5	NKAPL	6	28228324	Missense_Mutation	SNP	T	TCGA-P3-A5QF-01A-11D-A28R-08	130740	28228324	142886743	155	89315											
DDR1	780	broad.mit.edu	37	chr6	30856492	30856492	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcccccacccccttaggcccGagggatcaggagctatggga	8	5	13	15	1	1	0	1	0	0	0	1	4	1	3	5	4	1	1	5	4	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:30856492G>C	ENST00000508312.1	+	2	292	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	DDR1_ENST00000376567.2_5'UTR|DDR1_ENST00000376570.4_5'UTR|DDR1_ENST00000418800.2_5'UTR|DDR1_ENST00000454612.2_5'UTR|DDR1_ENST00000376575.3_5'UTR|DDR1_ENST00000324771.8_5'UTR|DDR1_ENST00000376568.3_5'UTR|DDR1_ENST00000376569.3_5'UTR|DDR1_ENST00000452441.1_5'UTR|DDR1_ENST00000446312.1_5'UTR	NM_001202523.1	NP_001189452.1	Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTTAGGCCCGAGGGATCAGG	0.537													14	29					0	0	0	0	C	30856492	G	C	30856492	3	2	460	1	0	0	0	0	1	0	0	0	4368	1073	37	3		3	DDR1	6	30856492	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2628168	30856492	140258575	156	89316											
VARS2	57176	broad.mit.edu	37	chr6	30891224	30891224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctcacccgagagctctCgctcgtcactcatgccctgc	5	10	7	19	3	4	1	3	0	1	1	7	2	5	1	3	0	3	2	3	0	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:30891224C>T	ENST00000321897.5	+	24	3040	c.2408C>T	c.(2407-2409)tCg>tTg	p.S803L	VARS2_ENST00000541562.1_Missense_Mutation_p.S833L|VARS2_ENST00000542001.1_Missense_Mutation_p.S663L|VARS2_ENST00000416670.2_Missense_Mutation_p.S803L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	803					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CGAGAGCTCTCGCTCGTCACT	0.627													39	39					0	0	0	0	T	30891224	C	T	30891224	3	4	460	1	0	0	0	0	1	0	0	0	17220	893	31	1	2596	1	VARS2	6	30891224	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	34732	30891224	140223843	157	89317											
TNXB	7148	broad.mit.edu	37	chr6	32017905	32017905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgccccggcacccgcacCgccttgggctgcccatcccc	3	6	10	22	4	0	0	0	0	0	0	2	0	1	0	8	2	2	3	8	2	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:32017905C>T	ENST00000375244.3	-	27	9510	c.9309G>A	c.(9307-9309)gcG>gcA	p.A3103A	TNXB_ENST00000375247.2_Silent_p.A3101A			P22105	TENX_HUMAN	tenascin XB	3148					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCACCCGCACCGCCTTGGGCT	0.637													33	75					0	0	0	0	T	32017905	C	T	32017905	2	4	460	1	0	0	0	0	0	0	0	1	16440	639	23	1		1	TNXB	6	32017905	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1126681	32017905	139097162	158	89318											
RGL2	5863	broad.mit.edu	37	chr6	33263456	33263456	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagctcggacagatgggcaGaggtgagaatgtcctggccg	9	7	17	8	2	0	3	0	1	0	3	2	5	1	4	2	4	1	3	2	4	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:33263456G>C	ENST00000497454.1	-	7	1344	c.849C>G	c.(847-849)ctC>ctG	p.L283L	RGL2_ENST00000444031.2_Silent_p.L201L|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	283	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CAGATGGGCAGAGGTGAGAAT	0.572													26	66					0	0	0	0	C	33263456	G	C	33263456	2	2	460	1	0	0	0	0	0	0	0	1	13359	929	33	2		2	RGL2	6	33263456	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1245551	33263456	137851611	159	89319											
ITPR3	3710	broad.mit.edu	37	chr6	33646584	33646584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggccgagggcaagtacGtcaagaagtgccaggacatg	13	6	14	8	2	1	1	1	0	0	1	1	3	1	2	2	3	2	2	2	3	5	2	rs139994078		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:33646584G>C	ENST00000374316.5	+	31	5000	c.3940G>C	c.(3940-3942)Gtc>Ctc	p.V1314L	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1314L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1314					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGGCAAGTACGTCAAGAAGTG	0.627													15	24					0	0	0	0	C	33646584	G	C	33646584	3	2	460	1	0	0	0	0	1	0	0	0	7975	1145	40	3	4058	3	ITPR3	6	33646584	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	383128	33646584	137468483	160	89320											
FGD2	221472	broad.mit.edu	37	chr6	36976630	36976630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccagaagcagcacccaGaggccagaggctagaggacg	13	1	14	13	1	0	4	0	0	0	4	0	6	0	5	4	3	2	3	4	3	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:36976630G>A	ENST00000274963.8	+	2	260	c.89G>A	c.(88-90)aGa>aAa	p.R30K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	30					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCAGCACCCAGAGGCCAGAGG	0.627													33	94					0	0	0	0	A	36976630	G	A	36976630	3	1	460	1	0	0	0	0	1	0	0	0	5878	942	33	2	95	2	FGD2	6	36976630	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3330046	36976630	134138437	161	89321											
TREM2	54209	broad.mit.edu	37	chr6	41126342	41126342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccacctccccactccctCaaccagtccctgcttccagg	7	9	4	21	0	1	0	1	0	0	0	5	0	5	0	8	1	3	1	8	1	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:41126342C>T	ENST00000338469.3	-	4	762	c.659G>A	c.(658-660)tGa>tAa	p.*220*	TREM2_ENST00000373113.3_3'UTR|TREM2_ENST00000373122.4_3'UTR	NM_001271821.1	NP_001258750.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCACTCCCTCAACCAGTCCC	0.468													4	5					0	0	0	0	T	41126342	C	T	41126342	2	4	460	1	0	0	0	0	0	0	0	1	16566	841	29	2		2	TREM2	6	41126342	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4149712	41126342	129988725	162	89322											
ABCC10	89845	broad.mit.edu	37	chr6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtgtccttggacCggatccagcttttcctcgac	8	10	10	13	2	0	0	0	0	0	0	4	3	3	2	5	3	1	1	5	3	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:43403588C>T	ENST00000244533.3	+	3	1938	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R570W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567													63	91					0	0	0	0	T	43403588	C	T	43403588	3	4	460	1	0	0	0	0	1	0	0	0	50	643	23	1	1589	1	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2277246	43403588	127711479	163	89323											
DST	667	broad.mit.edu	37	chr6	56347540	56347540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaaagtgcacacacggtctCccagcgtgtgcttaattcct	10	10	9	12	2	1	1	0	0	1	1	3	1	2	1	2	1	3	2	2	1	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:56347540C>G	ENST00000370754.5	-	89	21249	c.21250G>C	c.(21250-21252)Gag>Cag	p.E7084Q	DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.E6795Q|DST_ENST00000370788.2_Missense_Mutation_p.E4709Q|DST_ENST00000446842.2_Missense_Mutation_p.E6580Q|DST_ENST00000370769.4_Missense_Mutation_p.E6906Q|DST_ENST00000244364.6_Missense_Mutation_p.E4492Q|DST_ENST00000421834.2_Missense_Mutation_p.E4818Q			Q03001	DYST_HUMAN	dystonin	6904					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACACGGTCTCCCAGCGTGTG	0.517													40	62					0	0	0	0	G	56347540	C	G	56347540	3	3	460	1	0	0	0	0	1	0	0	0	4819	864	30	2	2101	2	DST	6	56347540	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	12943952	56347540	114767527	164	89324											
DST	667	broad.mit.edu	37	chr6	56458919	56458919	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatactgaccctgtttctCaagcaacacttgtgcagact	11	11	8	11	0	1	3	1	1	1	2	2	4	1	3	1	0	4	3	1	0	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:56458919C>G	ENST00000370754.5	-	48	12174	c.12175G>C	c.(12175-12177)Gag>Cag	p.E4059Q	DST_ENST00000312431.6_Missense_Mutation_p.E3879Q|DST_ENST00000361203.3_Missense_Mutation_p.E3879Q|DST_ENST00000370788.2_Missense_Mutation_p.E1793Q|DST_ENST00000446842.2_Missense_Mutation_p.E3555Q|DST_ENST00000370769.4_Missense_Mutation_p.E3881Q|DST_ENST00000244364.6_Missense_Mutation_p.E1467Q|DST_ENST00000421834.2_Missense_Mutation_p.E1793Q			Q03001	DYST_HUMAN	dystonin	3879					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTGTTTCTCAAGCAACACT	0.423													11	217					0	0	0	0	G	56458919	C	G	56458919	3	3	460	1	0	0	0	0	1	0	0	0	4819	835	29	2	11340	2	DST	6	56458919	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	111379	56458919	114656148	165	89325											
COL12A1	1303	broad.mit.edu	37	chr6	75818864	75818864	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaaatcttaacactttttGaggtcactacaatatgaacc	14	14	5	8	0	2	2	1	2	1	0	2	2	2	2	1	1	3	1	1	1	7	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:75818864G>C	ENST00000322507.8	-	52	8279	c.7970C>G	c.(7969-7971)tCa>tGa	p.S2657*	COL12A1_ENST00000416123.2_Intron|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.S2657*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.S1493*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2657	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACACTTTTTGAGGTCACTAC	0.274													24	23					0	0	0	0	C	75818864	G	C	75818864	4	2	460	1	0	0	0	0	0	1	0	0	3699	1294	45	2	1281	2	COL12A1	6	75818864	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	19359945	75818864	95296203	166	89326											
HTR1B	3351	broad.mit.edu	37	chr6	78172113	78172113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatctttgcagataggcatCactagggagatgatgaagaa	14	9	12	6	0	2	5	1	2	1	3	2	6	2	5	0	2	1	3	0	2	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:78172113C>T	ENST00000369947.2	-	1	1377	c.1008G>A	c.(1006-1008)gtG>gtA	p.V336V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	336					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AGATAGGCATCACTAGGGAGA	0.493													34	98					0	0	0	0	T	78172113	C	T	78172113	2	4	460	1	0	0	0	0	0	0	0	1	7490	813	29	2		2	HTR1B	6	78172113	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2353249	78172113	92942954	167	89327											
RIPPLY2	134701	broad.mit.edu	37	chr6	84567085	84567085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatagcgaagatgaaattGaggatctgacctgtgaaaat	15	10	11	5	1	1	6	0	5	1	1	1	8	1	7	1	1	1	0	1	1	5	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:84567085G>A	ENST00000369689.1	+	4	515	c.364G>A	c.(364-366)Gag>Aag	p.E122K	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.E64K	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	122					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						AGATGAAATTGAGGATCTGAC	0.289													21	46					0	0	0	0	A	84567085	G	A	84567085	3	1	460	1	0	0	0	0	1	0	0	0	13470	1291	45	2	378	2	RIPPLY2	6	84567085	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6394972	84567085	86547982	168	89328											
KIAA0408	9729	broad.mit.edu	37	chr6	127767753	127767753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagactctgttgctgtctCataggttttcagcagctttt	6	17	9	9	0	3	1	2	0	2	1	4	1	3	1	0	1	4	6	0	1	1	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:127767753C>T	ENST00000483725.3	-	5	2047	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	571							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GTTGCTGTCTCATAGGTTTTC	0.463													31	39					0	0	0	0	T	127767753	C	T	127767753	3	4	460	1	0	0	0	0	1	0	0	0	8225	835	29	2	381	2	KIAA0408	6	127767753	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	43200668	127767753	43347314	169	89329											
TIAM2	26230	broad.mit.edu	37	chr6	155561820	155561820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtcatccaggagcttgtgGacacagagaagtcctacgtg	12	8	12	9	1	1	1	1	0	0	1	3	4	3	3	2	2	2	1	2	2	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:155561820G>A	ENST00000461783.3	+	18	4598	c.3325G>A	c.(3325-3327)Gac>Aac	p.D1109N	TIAM2_ENST00000275246.7_Missense_Mutation_p.D34N|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1109N|TIAM2_ENST00000456877.2_Missense_Mutation_p.D421N|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1109N|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1109N|TIAM2_ENST00000528391.2_Missense_Mutation_p.D445N|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1133N|TIAM2_ENST00000367174.2_Missense_Mutation_p.D485N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1109	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAGCTTGTGGACACAGAGAA	0.562													43	44					0	0	0	0	A	155561820	G	A	155561820	3	1	460	1	0	0	0	0	1	0	0	0	15985	1174	41	2	3375	2	TIAM2	6	155561820	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	27794067	155561820	15553247	170	89330											
RNASET2	8635	broad.mit.edu	37	chr6	167343147	167343147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactctcagaccccggctctCggcggccccatttgccagcc	5	7	10	19	3	2	1	1	0	2	1	4	2	2	1	6	3	2	1	6	3	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:167343147C>T	ENST00000366855.6	-	10	1261	c.586G>A	c.(586-588)Gag>Aag	p.E196K	RNASET2_ENST00000508775.1_Missense_Mutation_p.E234K|RNASET2_ENST00000476238.2_Missense_Mutation_p.E234K|RP11-514O12.4_ENST00000507747.1_Intron			O00584	RNT2_HUMAN	ribonuclease T2	234					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CCCCGGCTCTCGGCGGCCCCA	0.552													108	326					0	0	0	0	T	167343147	C	T	167343147	3	4	460	1	0	0	0	0	1	0	0	0	13503	893	31	1	74	1	RNASET2	6	167343147	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	11781327	167343147	3771920	171	89331											
PHF14	9678	broad.mit.edu	37	chr7	11209061	11209061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagatgaaaatgaagctGaaagaaaaaatatatctcag	22	7	9	3	0	1	5	1	3	1	2	2	6	1	6	0	1	1	1	0	1	10	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:11209061G>A	ENST00000445996.2	+	17	2455	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	PHF14_ENST00000469407.1_3'UTR			O94880	PHF14_HUMAN	PHD finger protein 14	789							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AAATGAAGCTGAAAGAAAAAA	0.274													8	13					0	0	0	0	A	11209061	G	A	11209061	3	1	460	1	0	0	0	0	1	0	0	0	11897	1305	45	2		2	PHF14	7	11209061	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		11209061	147929602	172	89332											
SNX13	23161	broad.mit.edu	37	chr7	17843204	17843204	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatttacaaaagtgtccatCtaaagggaaaaaagatatta	19	10	8	4	0	1	1	0	0	1	1	2	3	2	3	1	2	1	0	1	2	10	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:17843204C>G	ENST00000409389.1	-	21	2270		c.e21-1		SNX13_ENST00000428135.3_Splice_Site|SNX13_ENST00000496855.1_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			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)					AAGTGTCCATCTAAAGGGAAA	0.363													10	9					0	0	0	0	G	17843204	C	G	17843204	5	3	460	1	0	0	0	0	0	0	1	0	14972	927	32	2	833	2	SNX13	7	17843204	Splice_Site	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6634143	17843204	141295459	173	89333											
PHKG1	5260	broad.mit.edu	37	chr7	56148918	56148918	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggggtctcggatgacgatCtcccgggtcacaggcttcac	7	9	13	12	3	4	1	2	1	2	0	6	3	4	2	1	5	0	1	1	5	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:56148918C>G	ENST00000452681.2	-	11	1238	c.1089G>C	c.(1087-1089)gaG>gaC	p.E363D	PHKG1_ENST00000537360.1_Missense_Mutation_p.E277D|PHKG1_ENST00000297373.2_Missense_Mutation_p.E331D	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	331	Calmodulin-binding (domain-C).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGATGACGATCTCCCGGGTCA	0.642													24	54					0	0	0	0	G	56148918	C	G	56148918	3	3	460	1	0	0	0	0	1	0	0	0	11918	912	32	2	174	2	PHKG1	7	56148918	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	38305714	56148918	102989745	174	89334											
SBDS	51119	broad.mit.edu	37	chr7	66456169	66456169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactttctatgaccttgatCagtggcttgagcttttcttt	6	19	7	9	0	4	3	2	3	2	0	4	3	4	3	1	1	1	2	1	1	1	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:66456169C>T	ENST00000246868.2	-	4	762	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	193					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGACCTTGATCAGTGGCTTGA	0.368			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				14	27					0	0	0	0	T	66456169	C	T	66456169	2	4	460	1	0	0	0	0	0	0	0	1	13943	813	29	2		2	SBDS	7	66456169	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	10307251	66456169	92682494	175	89335											
STAG3L2	442582	broad.mit.edu	37	chr7	74301245	74301245	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgcagatagcacggatCtcaggaaggacatccctaga	14	7	10	10	1	2	2	2	0	1	2	4	5	3	5	1	3	2	2	1	3	4	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:74301245C>A	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TAGCACGGATCTCAGGAAGGA	0.468													139	286					7.08505e-72	7.53281e-72	1	0	A	74301245	C	A	74301245	1	1	460	0	1	0	0	0	0	0	0	0	15335	912	32	2		2	STAG3L2	7	74301245	RNA	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7845076	74301245	84837418	176	89336											
CACNA2D1	781	broad.mit.edu	37	chr7	81667473	81667473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgatattattcaccgcgtCtttcaacacttttttatttc	8	20	4	9	2	3	1	2	1	1	0	4	1	3	1	1	0	1	0	1	0	4	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:81667473C>T	ENST00000356860.3	-	11	1296	c.958G>A	c.(958-960)Gac>Aac	p.D320N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D320N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	320	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTCACCGCGTCTTTCAACACT	0.343													37	45					0	0	0	0	T	81667473	C	T	81667473	3	4	460	1	0	0	0	0	1	0	0	0	2573	913	32	2	2433	2	CACNA2D1	7	81667473	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7366228	81667473	77471190	177	89337											
CLDN12	9069	broad.mit.edu	37	chr7	90042712	90042712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgacattccagtagtttCacacaccacttaatggggaa	14	11	7	9	0	1	1	1	1	0	0	2	2	2	2	2	2	0	2	2	2	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:90042712C>T	ENST00000535571.1	+	2	1031	c.722C>T	c.(721-723)tCa>tTa	p.S241L	CLDN12_ENST00000394605.2_Missense_Mutation_p.S241L|CLDN12_ENST00000287916.4_Missense_Mutation_p.S241L	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	241					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CCAGTAGTTTCACACACCACT	0.423													50	84					0	0	0	0	T	90042712	C	T	90042712	3	4	460	1	0	0	0	0	1	0	0	0	3504	838	29	2	724	2	CLDN12	7	90042712	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	8375239	90042712	69095951	178	89338											
SAMD9L	219285	broad.mit.edu	37	chr7	92760793	92760793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgtattttgtgctttatCaaagtactgctctattttgg	8	21	7	5	0	2	0	1	0	1	0	2	0	2	0	0	1	3	4	0	1	5	10			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:92760793C>T	ENST00000318238.4	-	5	5708	c.4492G>A	c.(4492-4494)Gat>Aat	p.D1498N	SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1498N|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1498N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1498										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTGCTTTATCAAAGTACTGC	0.458													39	89					0	0	0	0	T	92760793	C	T	92760793	3	4	460	1	0	0	0	0	1	0	0	0	13912	826	29	2	266	2	SAMD9L	7	92760793	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2718081	92760793	66377870	179	89339											
TRRAP	8295	broad.mit.edu	37	chr7	98579528	98579528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcagcctggccatccGcgagtggcggcggctgcccc	4	4	16	17	4	0	0	0	0	0	0	1	1	1	0	6	5	3	2	6	5	0	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:98579528G>A	ENST00000359863.4	+	58	8959	c.8750G>A	c.(8749-8751)cGc>cAc	p.R2917H	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2899H|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2899H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2917	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGCCATCCGCGAGTGGCGG	0.677													5	15					0	0	0	0	A	98579528	G	A	98579528	3	1	460	1	0	0	0	0	1	0	0	0	16696	1087	38	1	8918	1	TRRAP	7	98579528	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5818735	98579528	60559135	180	89340											
WNT2	7472	broad.mit.edu	37	chr7	116962987	116962987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagttgacctcgggggtGagccaggtcaagagcagagg	11	5	18	7	1	1	5	1	2	0	3	2	6	1	5	2	4	2	2	2	4	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:116962987G>A	ENST00000265441.3	-	1	356	c.57C>T	c.(55-57)ctC>ctT	p.L19L		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	19					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCGGGGGTGAGCCAGGTCA	0.607													33	52					0	0	0	0	A	116962987	G	A	116962987	2	1	460	1	0	0	0	0	0	0	0	1	17482	1277	45	2		2	WNT2	7	116962987	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	18383459	116962987	42175676	181	89341											
KCND2	3751	broad.mit.edu	37	chr7	119914796	119914796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggcaggagaggaaaaGgacccaagatgctctcattg	13	5	13	10	1	1	2	1	0	1	2	2	6	1	4	2	4	1	2	2	4	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:119914796G>A	ENST00000331113.4	+	1	1075	c.110G>A	c.(109-111)aGg>aAg	p.R37K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	37					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAGAGGAAAAGGACCCAAGAT	0.622													125	248					0	0	0	0	A	119914796	G	A	119914796	3	1	460	1	0	0	0	0	1	0	0	0	8072	1000	35	4	112	4	KCND2	7	119914796	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2951809	119914796	39223867	182	89342											
CADPS2	93664	broad.mit.edu	37	chr7	122130254	122130254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcttgaacccataatattCtgtcctgttcatcatcactg	9	15	6	11	0	4	1	3	1	1	0	5	1	5	1	2	1	1	2	2	1	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:122130254C>T	ENST00000334010.7	-	11	2154	c.1733G>A	c.(1732-1734)aGa>aAa	p.R578K	CADPS2_ENST00000313070.7_Missense_Mutation_p.R578K|CADPS2_ENST00000449022.2_Missense_Mutation_p.R578K|CADPS2_ENST00000412584.2_Missense_Mutation_p.R578K	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	578	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCATAATATTCTGTCCTGTTC	0.413													11	137					0	0	0	0	T	122130254	C	T	122130254	3	4	460	1	0	0	0	0	1	0	0	0	2596	913	32	2	2281	2	CADPS2	7	122130254	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2215458	122130254	37008409	183	89343											
ASB15	142685	broad.mit.edu	37	chr7	123270074	123270074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttggtaggcagagttactCgtgtactaatagattacatg	12	13	10	6	1	0	2	0	0	0	2	1	2	0	2	0	2	3	4	0	2	6	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:123270074C>T	ENST00000451558.1	+	13	2016	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ASB15_ENST00000434204.1_Missense_Mutation_p.R499C|ASB15_ENST00000451215.1_Missense_Mutation_p.R499C|ASB15_ENST00000275699.3_Missense_Mutation_p.R499C|ASB15_ENST00000540573.1_Missense_Mutation_p.R499C			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	499					intracellular signal transduction			p.R499S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAGTTACTCGTGTACTAAT	0.358													41	90					0	0	0	0	T	123270074	C	T	123270074	3	4	460	1	0	0	0	0	1	0	0	0	1023	884	31	1	1525	1	ASB15	7	123270074	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1139820	123270074	35868589	184	89344											
PLXNA4	91584	broad.mit.edu	37	chr7	132193417	132193417	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaccatgaggaggtgggaGagaaggcaggtccagttcca	11	5	15	10	0	0	2	0	1	0	1	2	5	2	4	4	5	0	2	4	5	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:132193417G>C	ENST00000359827.3	-	2	998	c.36C>G	c.(34-36)ctC>ctG	p.L12L	PLXNA4_ENST00000378539.5_Silent_p.L12L|PLXNA4_ENST00000321063.4_Silent_p.L12L|PLXNA4_ENST00000423507.2_Silent_p.L12L			Q9HCM2	PLXA4_HUMAN	plexin A4	12						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAGGTGGGAGAGAAGGCAGG	0.637													11	7					0	0	0	0	C	132193417	G	C	132193417	2	2	460	1	0	0	0	0	0	0	0	1	12194	929	33	2		2	PLXNA4	7	132193417	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	8923343	132193417	26945246	185	89345											
SSPO	23145	broad.mit.edu	37	chr7	149484608	149484608	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcccactcctggcgcctCagccccctctgccctgagcc	3	7	9	22	1	2	1	1	1	1	0	3	1	3	1	7	1	4	1	7	1	0	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:149484608C>T	ENST00000378016.2	+	0	3531							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGGCGCCTCAGCCCCCTCT	0.662													4	21					0	0	0	0	T	149484608	C	T	149484608	1	4	460	0	1	0	0	0	0	0	0	0	15279	813	29	2		2	SSPO	7	149484608	RNA	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	17291191	149484608	9654055	186	89346											
SSPO	23145	broad.mit.edu	37	chr7	149529910	149529910	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctaccgtctagacccggaGagccctgtgcggatcctgaa	9	7	12	13	3	1	3	0	1	1	2	2	5	2	4	4	2	4	1	4	2	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:149529910G>A	ENST00000378016.2	+	0	15327							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TAGACCCGGAGAGCCCTGTGC	0.642													31	51					0	0	0	0	A	149529910	G	A	149529910	1	1	460	0	1	0	0	0	0	0	0	0	15279	933	33	2		2	SSPO	7	149529910	RNA	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	45302	149529910	9608753	187	89347											
FBXO25	26260	broad.mit.edu	37	chr8	408518	408518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagacagacagctgtggaaGaagctttgtcagtaccattt	13	10	11	7	0	1	3	1	0	0	3	1	5	1	4	1	1	3	3	1	1	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:408518G>C	ENST00000352684.2	+	7	1026	c.609G>C	c.(607-609)aaG>aaC	p.K203N	FBXO25_ENST00000382824.1_Missense_Mutation_p.K203N|FBXO25_ENST00000519376.1_3'UTR|FBXO25_ENST00000276326.5_Missense_Mutation_p.K270N|FBXO25_ENST00000350302.3_Missense_Mutation_p.K270N	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	270						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AGCTGTGGAAGAAGCTTTGTC	0.517													7	75					0	0	0	0	C	408518	G	C	408518	3	2	460	1	0	0	0	0	1	0	0	0	5781	933	33	2	836	2	FBXO25	8	408518	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		408518	145955504	188	89348											
MYOM2	9172	broad.mit.edu	37	chr8	2054045	2054045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgcaggcaccaaggaaatCagtgctggtgtcgatgaaca	13	8	12	8	1	1	1	1	1	0	0	2	3	1	2	1	3	3	3	1	3	4	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:2054045C>T	ENST00000262113.4	+	22	2889	c.2748C>T	c.(2746-2748)atC>atT	p.I916I	MYOM2_ENST00000523438.1_Silent_p.I341I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	916	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGGAAATCAGTGCTGGTG	0.502													38	60					0	0	0	0	T	2054045	C	T	2054045	2	4	460	1	0	0	0	0	0	0	0	1	10162	816	29	2		2	MYOM2	8	2054045	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1645527	2054045	144309977	189	89349											
DOCK5	80005	broad.mit.edu	37	chr8	25191669	25191669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcattttaatcctgtacttGaaacctacatttacaagcac	14	13	4	10	0	0	1	0	1	0	0	1	1	1	1	2	0	6	3	2	0	6	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:25191669G>C	ENST00000276440.7	+	21	2193	c.2149G>C	c.(2149-2151)Gaa>Caa	p.E717Q		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	717						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			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)		TCCTGTACTTGAAACCTACAT	0.378													7	106					0	0	0	0	C	25191669	G	C	25191669	3	2	460	1	0	0	0	0	1	0	0	0	4726	1291	45	2	2231	2	DOCK5	8	25191669	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	23137624	25191669	121172353	190	89350											
TEX15	56154	broad.mit.edu	37	chr8	30702870	30702870	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcattagcgtcacaacTgttttctttagttgcatctt	8	19	5	9	1	4	0	2	0	2	0	4	0	4	0	0	0	4	3	0	0	4	9			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:30702870T>G	ENST00000256246.2	-	1	3738	c.3664A>C	c.(3664-3666)Agt>Cgt	p.S1222R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1222										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCGTCACAACTGTTTTCTTTA	0.284													13	12					0	0	0	0	G	30702870	T	G	30702870	3	3	460	1	0	0	0	0	1	0	0	0	15873	1580	55	5	4721	5	TEX15	8	30702870	Missense_Mutation	SNP	T	TCGA-P3-A5QF-01A-11D-A28R-08	5511201	30702870	115661152	191	89351											
ERLIN2	11160	broad.mit.edu	37	chr8	37602323	37602323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggtgtgatggtcacttatgGacaggaaatgttaaagaatc	13	11	13	4	0	1	2	1	1	0	1	2	4	1	4	0	4	0	1	0	4	5	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:37602323G>C	ENST00000518586.1	+	6	875	c.533G>C	c.(532-534)gGa>gCa	p.G178A	ERLIN2_ENST00000523887.1_Missense_Mutation_p.G178A|ERLIN2_ENST00000276461.5_Intron|ERLIN2_ENST00000519638.1_Intron|ERLIN2_ENST00000523107.1_Missense_Mutation_p.G178A|ERLIN2_ENST00000397228.2_Intron|ERLIN2_ENST00000335171.6_Intron			O94905	ERLN2_HUMAN	ER lipid raft associated 2	171	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTCACTTATGGACAGGAAATG	0.522													11	12					0	0	0	0	C	37602323	G	C	37602323	3	2	460	1	0	0	0	0	1	0	0	0	5271	1189	41	2		2	ERLIN2	8	37602323	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6899453	37602323	108761699	192	89352											
ST18	9705	broad.mit.edu	37	chr8	53084658	53084658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgcgggtctttcctttCtgtttcagaatcacacctgt	6	17	7	11	1	5	1	2	0	3	1	6	1	6	1	2	1	1	1	2	1	1	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:53084658C>G	ENST00000276480.7	-	10	1446	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	255						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTTCCTTTCTGTTTCAGAA	0.453													11	111					0	0	0	0	G	53084658	C	G	53084658	3	3	460	1	0	0	0	0	1	0	0	0	15302	922	32	2	2448	2	ST18	8	53084658	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	15482335	53084658	93279364	193	89353											
PLAG1	5324	broad.mit.edu	37	chr8	57078869	57078869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgctggtgaaagctgctGacagtgagtgcagagaccca	12	7	13	9	0	0	4	0	3	0	1	0	5	0	4	1	1	5	4	1	1	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:57078869G>A	ENST00000316981.3	-	5	1915	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	PLAG1_ENST00000423799.2_Missense_Mutation_p.S397L|PLAG1_ENST00000429357.2_Missense_Mutation_p.S479L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	479	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAAGCTGCTGACAGTGAGTG	0.478			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								69	122					0	0	0	0	A	57078869	G	A	57078869	3	1	460	1	0	0	0	0	1	0	0	0	12090	1294	45	2	70	2	PLAG1	8	57078869	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3994211	57078869	89285153	194	89354											
GGH	8836	broad.mit.edu	37	chr8	63951271	63951271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctagacagctcgaggctCgccgccccgcagagtagcag	8	5	14	14	4	1	2	0	0	1	2	3	3	1	2	3	2	2	5	3	2	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:63951271C>T	ENST00000260118.6	-	1	459	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	19					glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	GCTCGAGGCTCGCCGCCCCGC	0.701													18	9					0	0	0	0	T	63951271	C	T	63951271	2	4	460	1	0	0	0	0	0	0	0	1	6408	871	31	1		1	GGH	8	63951271	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6872402	63951271	82412751	195	89355											
VCPIP1	80124	broad.mit.edu	37	chr8	67578020	67578020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacaaccaccatcctcttCaagttttatgtactttttaa	13	15	2	11	0	2	0	1	0	1	0	3	0	3	0	3	0	3	2	3	0	6	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:67578020C>T	ENST00000310421.4	-	1	1432	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	392					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCCTCTTCAAGTTTTATG	0.413													5	205					0	0	0	0	T	67578020	C	T	67578020	3	4	460	1	0	0	0	0	1	0	0	0	17237	835	29	2	2506	2	VCPIP1	8	67578020	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3626749	67578020	78786002	196	89356											
SLC26A7	115111	broad.mit.edu	37	chr8	92346549	92346549	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgtttttgaaaacatCaagtctgtgcgactggaagc	12	12	10	7	1	2	1	1	1	1	0	2	3	2	2	0	1	3	2	0	1	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:92346549C>A	ENST00000276609.3	+	6	908	c.669C>A	c.(667-669)atC>atA	p.I223I	SLC26A7_ENST00000523719.1_Silent_p.I223I|SLC26A7_ENST00000309536.2_Silent_p.I223I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	223						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGAAAACATCAAGTCTGTGC	0.338													23	30					3.28513e-13	3.38575e-13	1	0	A	92346549	C	A	92346549	2	1	460	1	0	0	0	0	0	0	0	1	14610	816	29	2		2	SLC26A7	8	92346549	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	24768529	92346549	54017473	197	89357											
FZD6	8323	broad.mit.edu	37	chr8	104342132	104342132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcaccagaaacatcaatGagagaggtgaaagcggacgg	16	4	12	9	2	2	4	2	2	0	2	2	6	2	5	2	3	2	0	2	3	3	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:104342132G>A	ENST00000358755.4	+	6	2108	c.1791G>A	c.(1789-1791)atG>atA	p.M597I	FZD6_ENST00000540287.1_Missense_Mutation_p.M292I|FZD6_ENST00000523739.1_Missense_Mutation_p.M565I|FZD6_ENST00000522566.1_Missense_Mutation_p.M597I	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	597					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAACATCAATGAGAGAGGTGA	0.498													21	53					0	0	0	0	A	104342132	G	A	104342132	3	1	460	1	0	0	0	0	1	0	0	0	6182	1290	45	2	1809	2	FZD6	8	104342132	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	11995583	104342132	42021890	198	89358											
MTBP	27085	broad.mit.edu	37	chr8	121468867	121468867	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagaaatgttattgactCaaaggaattatggaggggga	14	11	12	4	0	2	2	2	1	1	1	3	5	2	5	0	4	0	1	0	4	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:121468867C>G	ENST00000305949.1	+	7	749	c.704C>G	c.(703-705)tCa>tGa	p.S235*		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	235					cell cycle arrest					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)			GTTATTGACTCAAAGGAATTA	0.313													45	104					0	0	0	0	G	121468867	C	G	121468867	4	3	460	1	0	0	0	0	0	1	0	0	9982	838	29	2	730	2	MTBP	8	121468867	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	17126735	121468867	24895155	199	89359											
PLEC	5339	broad.mit.edu	37	chr8	144992778	144992778	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcagccgctcccccttCaccgggtccagcaggaagcc	8	5	10	18	2	2	0	2	0	0	0	4	1	4	1	6	2	3	2	6	2	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:144992778C>A	ENST00000322810.4	-	32	11791	c.11622G>T	c.(11620-11622)gtG>gtT	p.V3874V	PLEC_ENST00000354589.3_Silent_p.V3737V|PLEC_ENST00000357649.2_Silent_p.V3741V|PLEC_ENST00000436759.2_Silent_p.V3764V|PLEC_ENST00000354958.2_Silent_p.V3715V|PLEC_ENST00000527096.1_Silent_p.V3760V|PLEC_ENST00000356346.3_Silent_p.V3723V|PLEC_ENST00000398774.2_Silent_p.V3705V|PLEC_ENST00000345136.3_Silent_p.V3737V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3874	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCCCCCTTCACCGGGTCCA	0.687													27	48					8.24728e-16	8.57718e-16	1	0	A	144992778	C	A	144992778	2	1	460	1	0	0	0	0	0	0	0	1	12124	813	29	2		2	PLEC	8	144992778	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	23523911	144992778	1371244	200	89360											
ARHGAP39	80728	broad.mit.edu	37	chr8	145758701	145758701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcctccacgttgggcttCttcagcccctgtgaagacag	7	11	9	14	1	3	2	1	1	2	1	5	2	4	2	4	1	1	2	4	1	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:145758701C>T	ENST00000276826.5	-	7	2805	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K	ARHGAP39_ENST00000377307.2_Silent_p.K899K|ARHGAP39_ENST00000540274.1_Silent_p.K868K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	868	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGTTGGGCTTCTTCAGCCCCT	0.632													25	37					0	0	0	0	T	145758701	C	T	145758701	2	4	460	1	0	0	0	0	0	0	0	1	886	912	32	2		2	ARHGAP39	8	145758701	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	765923	145758701	605321	201	89361											
GLIS3	169792	broad.mit.edu	37	chr9	3879429	3879429	+	Missense_Mutation	SNP	C	C	G																															agagacagatggccttacctCtcagctcctgcgtccacagc																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:3879429C>G	ENST00000324333.10	-	7	2023	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	GLIS3_ENST00000381971.3_Missense_Mutation_p.E765D|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	610					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	p.E610E(1)|p.E765E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGCCTTACCTCTCAGCTCCTG	0.517													7	99					0	0	0	0	G	3879429	C	G	3879429	3	3	460	1	0	0	0	0	1	0	0	0	6498	912	32	2	513	2	GLIS3	9	3879429	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		3879429	137334002	202	89362	1101	2									
GLIS3	169792	broad.mit.edu	37	chr9	3879431	3879431	+	Missense_Mutation	SNP	C	C	G																															agacagatggccttacctctCagctcctgcgtccacagctg																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:3879431C>G	ENST00000324333.10	-	7	2021	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q	GLIS3_ENST00000381971.3_Missense_Mutation_p.E765Q|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	610					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTTACCTCTCAGCTCCTGCG	0.517													47	58					0	0	0	0	G	3879431	C	G	3879431	3	3	460	1	0	0	0	0	1	0	0	0	6498	835	29	2	515	2	GLIS3	9	3879431	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2	3879431	137334000	203	89363	1101	2									
JAK2	3717	broad.mit.edu	37	chr9	5044417	5044417	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagattttactttcctcGttggtattgcagtggcagca	7	17	10	7	1	0	1	0	0	0	1	2	1	1	1	1	2	3	6	1	2	3	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:5044417G>A	ENST00000544510.1	+	0	289				JAK2_ENST00000539801.1_Missense_Mutation_p.R122H|JAK2_ENST00000381652.3_Missense_Mutation_p.R122H			O60674	JAK2_HUMAN	Janus kinase 2						actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TACTTTCCTCGTTGGTATTGC	0.393		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				23	51					0	0	0	0	A	5044417	G	A	5044417	1	1	460	1	0	0	0	0	0	0	0	0	7991	1145	40	1		1	JAK2	9	5044417	Translation_Start_Site	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1164986	5044417	136169014	204	89364											
SNAPC3	6619	broad.mit.edu	37	chr9	15457957	15457957	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattttcccacgaacaaaaGgcttgtgcatcatgatgact	12	13	7	9	1	1	2	1	2	0	0	2	3	2	2	1	1	2	2	1	1	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:15457957G>C	ENST00000380821.3	+	8	1156		c.e8-1			NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa						regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		ACGAACAAAAGGCTTGTGCAT	0.333													35	38					0	0	0	0	C	15457957	G	C	15457957	5	2	460	1	0	0	0	0	0	0	1	0	14924	1014	35	4	1010	4	SNAPC3	9	15457957	Splice_Site	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	10413540	15457957	125755474	205	89365											
IFNA17	3451	broad.mit.edu	37	chr9	21227622	21227623	+	Frame_Shift_Ins	INS	-	-	T																															tcaatccttcctccttaataINSttttttgcaagtttgttgaa																								rs9298814	by1000genomes	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:21227622_21227623insT	ENST00000413767.2	-	1	598_599	c.550_551insA	c.(550-552)attfs	p.I184fs		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	184			I -> R (in dbSNP:rs9298814).		blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTCCTTAATATTTTTTGCAAG	0.381													105	195	---	---	---	---					T	21227623	-	T	21227622	7	5	460	1	0	1	1	0	0	0	0	0	7589	449	16	0	22	0	IFNA17	9	21227622	Frame_Shift_Ins	INS	-	TCGA-P3-A5QF-01A-11D-A28R-08	5769665	21227622	119985809	206	89366											
UBAP2	55833	broad.mit.edu	37	chr9	33933498	33933498	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccatacctgctaagctGagagagagggctgctagtca	10	9	11	11	0	1	2	1	1	0	2	2	4	2	2	3	1	4	4	3	1	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:33933498G>A	ENST00000379238.1	-	18	2215	c.2098C>T	c.(2098-2100)Cag>Tag	p.Q700*	UBAP2_ENST00000418786.2_Nonsense_Mutation_p.Q647*|UBAP2_ENST00000449054.1_Nonsense_Mutation_p.Q700*|UBAP2_ENST00000360802.1_Nonsense_Mutation_p.Q700*|UBAP2_ENST00000379239.4_Nonsense_Mutation_p.Q433*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.Q455*			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	700										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGCTAAGCTGAGAGAGAGGG	0.587													22	37					0	0	0	0	A	33933498	G	A	33933498	4	1	460	1	0	0	0	0	0	1	0	0	16933	1299	45	2	1309	2	UBAP2	9	33933498	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	12705876	33933498	107279933	207	89367											
GRHPR	9380	broad.mit.edu	37	chr9	37429760	37429760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcggcgtctgaaaccattCggtgtccagagatttctgta	8	12	11	10	3	2	2	0	1	2	1	5	3	3	2	2	2	1	2	2	2	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:37429760C>T	ENST00000607784.1	+	6	530	c.525C>T	c.(523-525)ttC>ttT	p.F175F	GRHPR_ENST00000318158.6_Silent_p.F175F			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	175					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGAAACCATTCGGTGTCCAGA	0.557													60	111					0	0	0	0	T	37429760	C	T	37429760	2	4	460	1	0	0	0	0	0	0	0	1	6816	883	31	1		1	GRHPR	9	37429760	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3496262	37429760	103783671	208	89368											
TMEM2	23670	broad.mit.edu	37	chr9	74360459	74360459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcctcaaagtaatatttCtggatccatctttattgtcc	10	16	6	9	0	3	0	1	0	2	0	6	2	6	1	3	1	0	1	3	1	4	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:74360459C>T	ENST00000377044.4	-	4	1048	c.509G>A	c.(508-510)aGa>aAa	p.R170K	TMEM2_ENST00000377066.5_Missense_Mutation_p.R170K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	170	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGTAATATTTCTGGATCCATC	0.423													22	67					0	0	0	0	T	74360459	C	T	74360459	3	4	460	1	0	0	0	0	1	0	0	0	16215	913	32	2	3726	2	TMEM2	9	74360459	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	36930699	74360459	66852972	209	89369											
ROR2	4920	broad.mit.edu	37	chr9	94486339	94486339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacgtagagctgcggcggggGcaccatgggtctgatctggc	6	7	18	10	3	2	2	0	1	2	1	2	3	2	2	1	5	2	3	1	5	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:94486339G>T	ENST00000375708.3	-	9	2635	c.2437C>A	c.(2437-2439)Ccc>Acc	p.P813T	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	813	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCGGCGGGGGCACCATGGGT	0.652													34	91					6.29468e-14	6.51096e-14	1	0	T	94486339	G	T	94486339	3	4	460	1	0	0	0	0	1	0	0	0	13612	1203	42	4	398	4	ROR2	9	94486339	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	20125880	94486339	46727092	210	89370											
NOL8	55035	broad.mit.edu	37	chr9	95062203	95062203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctgtgatctgtttcttCagtaacatcttcctcttctg	5	20	6	10	0	7	1	1	1	6	0	8	1	8	1	1	0	1	3	1	0	1	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:95062203C>T	ENST00000545558.1	-	14	3763	c.3271G>A	c.(3271-3273)Gaa>Aaa	p.E1091K	NOL8_ENST00000358855.4_Missense_Mutation_p.E1023K|NOL8_ENST00000535387.1_Missense_Mutation_p.E1053K|NOL8_ENST00000442668.2_Missense_Mutation_p.E1091K|NOL8_ENST00000542053.1_Missense_Mutation_p.E1023K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1091					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTGTTTCTTCAGTAACATCT	0.378													8	273					0	0	0	0	T	95062203	C	T	95062203	3	4	460	1	0	0	0	0	1	0	0	0	10597	835	29	2	248	2	NOL8	9	95062203	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	575864	95062203	46151228	211	89371											
BICD2	23299	broad.mit.edu	37	chr9	95485048	95485048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatttgtactccttgatgtCatcccgcaggcggccacgct	7	11	10	13	3	1	1	1	1	0	0	3	2	3	1	3	2	1	3	3	2	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:95485048C>T	ENST00000356884.6	-	3	563	c.496G>A	c.(496-498)Gac>Aac	p.D166N	BICD2_ENST00000375512.3_Missense_Mutation_p.D166N	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	166					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTTGATGTCATCCCGCAGG	0.577													20	47					0	0	0	0	T	95485048	C	T	95485048	3	4	460	1	0	0	0	0	1	0	0	0	1434	826	29	2	2101	2	BICD2	9	95485048	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	422845	95485048	45728383	212	89372											
PTPDC1	138639	broad.mit.edu	37	chr9	96847541	96847541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatatgttctaggaaatttaGaacgtccaacaccaaagtac	16	11	6	8	1	1	1	0	0	1	1	2	2	2	2	2	1	3	2	2	1	9	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:96847541G>C	ENST00000375360.3	+	3	431	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E83Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	31							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AGGAAATTTAGAACGTCCAAC	0.413													4	63					0	0	0	0	C	96847541	G	C	96847541	3	2	460	1	0	0	0	0	1	0	0	0	12853	943	33	2	339	2	PTPDC1	9	96847541	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1362493	96847541	44365890	213	89373											
TMOD1	7111	broad.mit.edu	37	chr9	100328171	100328171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggcatatgcagaagccctGaaagaaaactcatatgtgaa	18	7	9	7	0	1	4	1	2	0	2	1	4	1	4	1	1	3	2	1	1	8	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:100328171G>A	ENST00000395211.2	+	7	796	c.660G>A	c.(658-660)ctG>ctA	p.L220L	TMOD1_ENST00000259365.3_Silent_p.L220L|TMOD1_ENST00000375175.1_Silent_p.L93L	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	220					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CAGAAGCCCTGAAAGAAAACT	0.507													15	185					0	0	0	0	A	100328171	G	A	100328171	2	1	460	1	0	0	0	0	0	0	0	1	16327	1277	45	2		2	TMOD1	9	100328171	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3480630	100328171	40885260	214	89374											
ZNF462	58499	broad.mit.edu	37	chr9	109692023	109692023	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagatggtgcttttgcaGatttcaaacaagagagggta	13	11	12	5	0	1	3	1	0	0	3	1	4	1	3	0	2	4	4	0	2	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:109692023G>C	ENST00000277225.5	+	3	6119	c.5830G>C	c.(5830-5832)Gat>Cat	p.D1944H	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.D789H|ZNF462_ENST00000457913.1_Missense_Mutation_p.D1944H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1944					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCTTTTGCAGATTTCAAACA	0.473													8	93					0	0	0	0	C	109692023	G	C	109692023	3	2	460	1	0	0	0	0	1	0	0	0	18021	942	33	2	5836	2	ZNF462	9	109692023	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	9363852	109692023	31521408	215	89375											
ACTL7A	10881	broad.mit.edu	37	chr9	111624686	111624686	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccctgcagacacaggccctCcagactgcctctttaaggga	9	7	9	16	0	1	2	0	0	1	2	2	3	2	3	5	2	2	1	5	2	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111624686C>G	ENST00000333999.3	+	1	84	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	28						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACAGGCCCTCCAGACTGCCT	0.617													8	87					0	0	0	0	G	111624686	C	G	111624686	2	3	460	1	0	0	0	0	0	0	0	1	200	842	30	2		2	ACTL7A	9	111624686	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1932663	111624686	29588745	216	89376											
ACTL7A	10881	broad.mit.edu	37	chr9	111625061	111625061	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggatatctgggaatatctCttccgacaagagatgaagat	14	10	10	7	1	2	3	0	1	2	2	4	7	3	5	1	2	0	0	1	2	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111625061C>G	ENST00000333999.3	+	1	459	c.459C>G	c.(457-459)ctC>ctG	p.L153L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	153						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGAATATCTCTTCCGACAAG	0.507													6	77					0	0	0	0	G	111625061	C	G	111625061	2	3	460	1	0	0	0	0	0	0	0	1	200	900	32	2		2	ACTL7A	9	111625061	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	375	111625061	29588370	217	89377											
CTNNAL1	8727	broad.mit.edu	37	chr9	111745477	111745477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tagatgaaatgtcagtctctCcattcggtttacagtcagtc	10	14	8	9	1	3	2	2	1	1	1	7	2	4	2	1	1	1	1	1	1	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111745477C>G	ENST00000374595.4	-	6	927	c.848G>C	c.(847-849)gGa>gCa	p.G283A	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G283A|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.G283A			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	283					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCAGTCTCTCCATTCGGTTT	0.318													17	32					0	0	0	0	G	111745477	C	G	111745477	3	3	460	1	0	0	0	0	1	0	0	0	4047	855	30	2	1412	2	CTNNAL1	9	111745477	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	120416	111745477	29467954	218	89378											
C9orf84	158401	broad.mit.edu	37	chr9	114490053	114490053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgcttttttaattattGaagaggaaggtgatttaata	15	16	9	1	0	0	4	0	2	0	2	0	5	0	5	0	2	1	1	0	2	7	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:114490053G>A	ENST00000394779.3	-	9	1629	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	C9orf84_ENST00000374287.3_Missense_Mutation_p.S501L|C9orf84_ENST00000318737.4_Missense_Mutation_p.S501L|C9orf84_ENST00000394777.4_Missense_Mutation_p.S462L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	501										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTAATTATTGAAGAGGAAGG	0.328													39	69					0	0	0	0	A	114490053	G	A	114490053	3	1	460	1	0	0	0	0	1	0	0	0	2525	1294	45	2	2896	2	C9orf84	9	114490053	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2744576	114490053	26723378	219	89379											
C9orf84	158401	broad.mit.edu	37	chr9	114490173	114490173	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttggtttttcttcttttGctgctcctttatcagagaaa	6	21	6	8	0	4	1	1	0	3	1	5	2	5	1	1	1	2	3	1	1	2	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:114490173G>C	ENST00000394779.3	-	9	1509	c.1265C>G	c.(1264-1266)gCa>gGa	p.A422G	C9orf84_ENST00000374287.3_Missense_Mutation_p.A461G|C9orf84_ENST00000318737.4_Missense_Mutation_p.A461G|C9orf84_ENST00000394777.4_Missense_Mutation_p.A422G	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	461										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTTCTTTTGCTGCTCCTTT	0.358													19	42					0	0	0	0	C	114490173	G	C	114490173	3	2	460	1	0	0	0	0	1	0	0	0	2525	1319	46	4	3016	4	C9orf84	9	114490173	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	120	114490173	26723258	220	89380											
HSDL2	84263	broad.mit.edu	37	chr9	115216390	115216390	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaattgttaaggactctctCagtgatgatgttgttaaagc	12	14	10	5	0	2	3	1	2	1	1	3	4	2	4	0	1	1	3	0	1	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:115216390C>G	ENST00000398805.3	+	9	1190	c.963C>G	c.(961-963)ctC>ctG	p.L321L	HSDL2_ENST00000398803.1_Silent_p.L248L|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Silent_p.L116L|HSDL2_ENST00000262542.7_Silent_p.L201L	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	321	SCP2.					peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AGGACTCTCTCAGTGATGATG	0.408													44	76					0	0	0	0	G	115216390	C	G	115216390	2	3	460	1	0	0	0	0	0	0	0	1	7444	813	29	2		2	HSDL2	9	115216390	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	726217	115216390	25997041	221	89381											
C9orf91	203197	broad.mit.edu	37	chr9	117400877	117400877	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcatggagactggggtGagccctgcaacagcggaggg	8	7	18	8	1	1	2	1	1	0	1	1	4	1	3	1	5	4	2	1	5	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:117400877G>T	ENST00000374049.4	+	8	1160	c.723G>T	c.(721-723)gtG>gtT	p.V241V	C9orf91_ENST00000288502.4_Silent_p.V240V	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	240						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						AGACTGGGGTGAGCCCTGCAA	0.557													54	86					3.21867e-24	3.38434e-24	1	0	T	117400877	G	T	117400877	2	4	460	1	0	0	0	0	0	0	0	1	2530	1277	45	2		2	C9orf91	9	117400877	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2184487	117400877	23812554	222	89382											
TLR4	7099	broad.mit.edu	37	chr9	120474686	120474686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtgaaatccagacaattGaagatggggcatatcagagc	14	8	13	6	0	1	5	1	2	0	3	2	5	2	5	1	3	1	1	1	3	4	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:120474686G>A	ENST00000355622.6	+	3	381	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E54K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	94					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCAGACAATTGAAGATGGGGC	0.388													19	31					0	0	0	0	A	120474686	G	A	120474686	3	1	460	1	0	0	0	0	1	0	0	0	16047	1291	45	2	290	2	TLR4	9	120474686	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3073809	120474686	20738745	223	89383											
MRRF	92399	broad.mit.edu	37	chr9	125042832	125042832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagtctgtgatagaagctCtcaaggataatttcaataag	15	12	9	5	0	3	3	2	2	2	1	4	4	3	4	0	1	1	1	0	1	7	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:125042832C>G	ENST00000344641.3	+	3	606	c.295C>G	c.(295-297)Ctc>Gtc	p.L99V	MRRF_ENST00000373730.3_Missense_Mutation_p.L99V|MRRF_ENST00000297908.3_Intron|MRRF_ENST00000373727.1_Missense_Mutation_p.L99V|MRRF_ENST00000373723.4_Missense_Mutation_p.L99V|MRRF_ENST00000394315.3_Missense_Mutation_p.L99V|MRRF_ENST00000373728.1_Missense_Mutation_p.L99V|MRRF_ENST00000546115.1_Missense_Mutation_p.L99V|MRRF_ENST00000373729.1_Missense_Mutation_p.L55V	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	99					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						GATAGAAGCTCTCAAGGATAA	0.408													7	69					0	0	0	0	G	125042832	C	G	125042832	3	3	460	1	0	0	0	0	1	0	0	0	9920	913	32	2	301	2	MRRF	9	125042832	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4568146	125042832	16170599	224	89384											
PTGS1	5742	broad.mit.edu	37	chr9	125154628	125154628	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccctcaagggtctcctaggGaatcccatctgttctccgga	7	11	9	14	1	4	0	1	0	3	0	8	2	6	2	4	3	0	1	4	3	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:125154628G>A	ENST00000362012.2	+	11	1610	c.1605G>A	c.(1603-1605)ggG>ggA	p.G535G	PTGS1_ENST00000373698.5_Silent_p.G426G|PTGS1_ENST00000223423.4_Silent_p.G498G|PTGS1_ENST00000540753.1_Silent_p.G473G	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	535					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GTCTCCTAGGGAATCCCATCT	0.522													60	119					0	0	0	0	A	125154628	G	A	125154628	2	1	460	1	0	0	0	0	0	0	0	1	12835	1161	41	2		2	PTGS1	9	125154628	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	111796	125154628	16058803	225	89385											
SH3GLB2	56904	broad.mit.edu	37	chr9	131772411	131772411	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactcacgtgagtgctactGattccctccagcaagagacg	10	8	11	12	2	1	3	1	2	0	1	3	5	3	4	2	1	3	2	2	1	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:131772411G>C	ENST00000372564.3	-	8	871	c.726C>G	c.(724-726)atC>atG	p.I242M	SH3GLB2_ENST00000372559.1_Missense_Mutation_p.I242M|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.I221M|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.I242M|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.I246M	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	242	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GAGTGCTACTGATTCCCTCCA	0.627													27	59					0	0	0	0	C	131772411	G	C	131772411	3	2	460	1	0	0	0	0	1	0	0	0	14342	1280	45	2	477	2	SH3GLB2	9	131772411	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6617783	131772411	9441020	226	89386											
VAV2	7410	broad.mit.edu	37	chr9	136643922	136643922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtcgcccctcagcagctCaagcacgtcgcccgtctgga	7	6	12	16	4	3	0	2	0	1	0	5	1	3	1	3	2	3	3	3	2	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:136643922C>G	ENST00000371851.1	-	20	2147	c.1822G>C	c.(1822-1824)Gag>Cag	p.E608Q	VAV2_ENST00000371850.3_Missense_Mutation_p.E618Q|VAV2_ENST00000406606.3_Missense_Mutation_p.E608Q			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	618	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCAGCAGCTCAAGCACGTCG	0.672													30	30					0	0	0	0	G	136643922	C	G	136643922	3	3	460	1	0	0	0	0	1	0	0	0	17228	835	29	2	820	2	VAV2	9	136643922	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4871511	136643922	4569509	227	89387											
OLFM1	10439	broad.mit.edu	37	chr9	137987761	137987761	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacaggcggacccagagaGacttgcagtacgtggagaag	12	5	16	8	2	0	3	0	0	0	3	0	7	0	5	1	4	2	2	1	4	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:137987761G>C	ENST00000252854.4	+	3	485	c.298G>C	c.(298-300)Gac>Cac	p.D100H	OLFM1_ENST00000371796.3_Missense_Mutation_p.D91H|OLFM1_ENST00000277415.11_Missense_Mutation_p.D100H|OLFM1_ENST00000371793.3_Missense_Mutation_p.D118H|OLFM1_ENST00000392991.4_Missense_Mutation_p.D118H	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	118					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GACCCAGAGAGACTTGCAGTA	0.517													5	94					0	0	0	0	C	137987761	G	C	137987761	3	2	460	1	0	0	0	0	1	0	0	0	10923	942	33	2	308	2	OLFM1	9	137987761	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1343839	137987761	3225670	228	89388											
CAMSAP1	157922	broad.mit.edu	37	chr9	138712793	138712793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggggccttcaggtcggaGaggtccacttcaatgaggct	7	9	15	10	2	2	2	2	1	0	1	5	3	3	2	2	6	0	1	2	6	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:138712793G>A	ENST00000389532.4	-	11	3778	c.3714C>T	c.(3712-3714)ctC>ctT	p.L1238L	CAMSAP1_ENST00000312405.6_Silent_p.L960L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.L1249L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1238						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCAGGTCGGAGAGGTCCACTT	0.642													34	47					0	0	0	0	A	138712793	G	A	138712793	2	1	460	1	0	0	0	0	0	0	0	1	2636	929	33	2		2	CAMSAP1	9	138712793	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	725032	138712793	2500638	229	89389											
TAF3	83860	broad.mit.edu	37	chr10	8006971	8006971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctccgtcagtgtctcctCccactcccgaacctctccac	5	11	4	21	2	4	0	1	0	3	0	9	1	6	0	6	0	1	0	6	0	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:8006971C>T	ENST00000344293.5	+	3	1704	c.1498C>T	c.(1498-1500)Ccc>Tcc	p.P500S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	500					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGTGTCTCCTCCCACTCCCGA	0.458													51	75					0	0	0	0	T	8006971	C	T	8006971	3	4	460	1	0	0	0	0	1	0	0	0	15616	855	30	2	1508	2	TAF3	10	8006971	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		8006971	127527776	230	89390											
UPF2	26019	broad.mit.edu	37	chr10	12041914	12041914	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataccaataccttgtctatCagatctcggttgacacagtt	11	13	7	10	1	3	2	1	1	2	1	4	3	3	2	2	1	2	2	2	1	4	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12041914C>G	ENST00000356352.2	-	6	2222	c.1749G>C	c.(1747-1749)ctG>ctC	p.L583L	UPF2_ENST00000357604.5_Silent_p.L583L|UPF2_ENST00000397053.2_Silent_p.L583L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	583	MIF4G 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CCTTGTCTATCAGATCTCGGT	0.418													25	45					0	0	0	0	G	12041914	C	G	12041914	2	3	460	1	0	0	0	0	0	0	0	1	17100	813	29	2		2	UPF2	10	12041914	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4034943	12041914	123492833	231	89391			2	145		3	3	96	N	C	8.768232e-07
UPF2	26019	broad.mit.edu	37	chr10	12041994	12041994	+	Frame_Shift_Del	DEL	C	C	-																															atgagatccagtgctggcttCctcatcttcttgttctaatg																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12041994delC	ENST00000356352.2	-	6	2142	c.1669delG	c.(1669-1671)aafs	p.E557fs	UPF2_ENST00000397053.2_Frame_Shift_Del_p.E557fs|UPF2_ENST00000357604.5_Frame_Shift_Del_p.E557fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	557					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTGCTGGCTTCCTCATCTTCT	0.343													32	55	---	---	---	---					-	12041994	C	-	12041994	7	5	460	1	0	1	0	1	0	0	0	0	17100	864	30	0	2213	0	UPF2	10	12041994	Frame_Shift_Del	DEL	C	TCGA-P3-A5QF-01A-11D-A28R-08	80	12041994	123492753	232	89392			2	145		3	3	96	N	C	8.768232e-07
UPF2	26019	broad.mit.edu	37	chr10	12042009	12042009	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttcctcatcttcttgttCtaatgtaaaattagttttta	9	20	5	7	0	4	0	1	0	3	0	5	0	5	0	1	1	0	4	1	1	5	10			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12042009C>T	ENST00000356352.2	-	6	2128		c.e6-1		UPF2_ENST00000357604.5_Splice_Site|UPF2_ENST00000397053.2_Splice_Site			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTTCTTGTTCTAATGTAAAA	0.333													26	32					0	0	0	0	T	12042009	C	T	12042009	5	4	460	1	0	0	0	0	0	0	1	0	17100	927	32	2	2228	2	UPF2	10	12042009	Splice_Site	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	15	12042009	123492738	233	89393			2	145		3	3	96	N	C	8.768232e-07
ANKRD26	22852	broad.mit.edu	37	chr10	27335406	27335406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttcgaggtccgtttttCtttttcagtgctctttactt	3	23	6	9	2	4	0	1	0	3	0	6	1	5	0	1	1	2	2	1	1	1	9			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:27335406C>G	ENST00000376087.4	-	18	2026	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E637Q|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E178Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	620						centrosome				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						GTCCGTTTTTCTTTTTCAGTG	0.388													5	48					0	0	0	0	G	27335406	C	G	27335406	3	3	460	1	0	0	0	0	1	0	0	0	654	922	32	2	3339	2	ANKRD26	10	27335406	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	15293397	27335406	108199341	234	89394											
NRP1	8829	broad.mit.edu	37	chr10	33510682	33510682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtatacttcaaatctcataGatatgccagtttcccaagtt	12	14	5	10	1	2	1	2	0	1	1	4	1	3	1	2	0	2	3	2	0	6	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:33510682G>A	ENST00000265371.4	-	9	1772	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	NRP1_ENST00000395995.1_Missense_Mutation_p.S416F|NRP1_ENST00000374816.3_Missense_Mutation_p.S416F|NRP1_ENST00000374821.5_Missense_Mutation_p.S416F|NRP1_ENST00000374822.4_Missense_Mutation_p.S416F|NRP1_ENST00000374823.5_Missense_Mutation_p.S416F|NRP1_ENST00000374867.2_Missense_Mutation_p.S416F			O14786	NRP1_HUMAN	neuropilin 1	416	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AAATCTCATAGATATGCCAGT	0.418													33	68					0	0	0	0	A	33510682	G	A	33510682	3	1	460	1	0	0	0	0	1	0	0	0	10731	942	33	2	1575	2	NRP1	10	33510682	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6175276	33510682	102024065	235	89395											
ANKRD30A	91074	broad.mit.edu	37	chr10	37506719	37506719	+	Silent	SNP	G	G	A																															agaatcgaagagcagcatagGaaagagttagaagtgaaaca																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:37506719G>A	ENST00000374660.1	+	39	3468	c.3369G>A	c.(3367-3369)agG>agA	p.R1123R	ANKRD30A_ENST00000361713.1_Silent_p.R1004R|ANKRD30A_ENST00000602533.1_Silent_p.R1004R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAGCATAGGAAAGAGTTAG	0.333													6	55					0	0	0	0	A	37506719	G	A	37506719	2	1	460	1	0	0	0	0	0	0	0	1	658	1165	41	2		2	ANKRD30A	10	37506719	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3996037	37506719	98028028	236	89396	1102	2									
ANKRD30A	91074	broad.mit.edu	37	chr10	37506723	37506723	+	Missense_Mutation	SNP	G	G	A																															tcgaagagcagcataggaaaGagttagaagtgaaacaacaa																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:37506723G>A	ENST00000374660.1	+	39	3472	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1006K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1006K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCATAGGAAAGAGTTAGAAGT	0.323													6	57					0	0	0	0	A	37506723	G	A	37506723	3	1	460	1	0	0	0	0	1	0	0	0	658	943	33	2	3146	2	ANKRD30A	10	37506723	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	4	37506723	98028024	237	89397	1102	2									
FAM21A	387680	broad.mit.edu	37	chr10	51863892	51863892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtttccctgtttgatgatGaagatgaagaggtaaacatt	12	14	11	4	0	0	6	0	4	0	2	1	6	1	6	1	2	1	3	1	2	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:51863892G>A	ENST00000351071.6	+	18	1844	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	FAM21A_ENST00000314664.7_Missense_Mutation_p.E576K|FAM21A_ENST00000399339.2_Missense_Mutation_p.E488K|FAM21A_ENST00000282633.5_Missense_Mutation_p.E576K			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	576					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GTTTGATGATGAAGATGAAGA	0.408													23	6					0	0	0	0	A	51863892	G	A	51863892	3	1	460	1	0	0	0	0	1	0	0	0	5583	1291	45	2	1796	2	FAM21A	10	51863892	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	14357169	51863892	83670855	238	89398											
ZNF365	22891	broad.mit.edu	37	chr10	64415248	64415248	+	Missense_Mutation	SNP	C	C	T																															gcgttggcagtcaggtaattCatcagatctggaaaccacct																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:64415248C>T	ENST00000395251.1	+	4	582	c.248C>T	c.(247-249)tCa>tTa	p.S83L	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	83										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCAGGTAATTCATCAGATCTG	0.527													31	60					0	0	0	0	T	64415248	C	T	64415248	3	4	460	1	0	0	0	0	1	0	0	0	17964	838	29	2	1736	2	ZNF365	10	64415248	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	12551356	64415248	71119499	239	89399	1103	2									
ZNF365	22891	broad.mit.edu	37	chr10	64415251	64415251	+	Missense_Mutation	SNP	C	C	T																															ttggcagtcaggtaattcatCagatctggaaaccacctcat																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:64415251C>T	ENST00000395251.1	+	4	585	c.251C>T	c.(250-252)tCa>tTa	p.S84L	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	84										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTAATTCATCAGATCTGGAA	0.527													28	58					0	0	0	0	T	64415251	C	T	64415251	3	4	460	1	0	0	0	0	1	0	0	0	17964	838	29	2	1739	2	ZNF365	10	64415251	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3	64415251	71119496	240	89400	1103	2									
CTNNA3	29119	broad.mit.edu	37	chr10	68979540	68979540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaatgctccaaacaagctGaacaaattgaatgcaagagg	18	6	9	8	0	0	4	0	2	0	2	1	4	1	4	1	1	5	3	1	1	7	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:68979540G>A	ENST00000433211.1	-	6	842	c.668C>T	c.(667-669)tCa>tTa	p.S223L	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S223L|CTNNA3_ENST00000545309.1_Missense_Mutation_p.S223L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	223					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAAACAAGCTGAACAAATTGA	0.413													8	92					0	0	0	0	A	68979540	G	A	68979540	3	1	460	1	0	0	0	0	1	0	0	0	4046	1294	45	2	2071	2	CTNNA3	10	68979540	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	4564289	68979540	66555207	241	89401											
OIT3	170392	broad.mit.edu	37	chr10	74673202	74673202	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaacatcctcttctctctCaagacatgtggtacagtggt	9	13	8	11	0	4	1	2	0	3	1	7	1	5	1	1	2	2	1	1	2	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:74673202C>G	ENST00000334011.5	+	6	1145	c.927C>G	c.(925-927)ctC>ctG	p.L309L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	309	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCTTCTCTCTCAAGACATGTG	0.562													6	119					0	0	0	0	G	74673202	C	G	74673202	2	3	460	1	0	0	0	0	0	0	0	1	10920	813	29	2		2	OIT3	10	74673202	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	5693662	74673202	60861545	242	89402											
OIT3	170392	broad.mit.edu	37	chr10	74684020	74684020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgtggccagcaacctcGtgacaggtctacccaagcag	11	7	11	12	1	1	2	0	1	1	1	2	2	1	2	3	2	4	2	3	2	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:74684020G>A	ENST00000334011.5	+	7	1203	c.985G>A	c.(985-987)Gtg>Atg	p.V329M		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	329	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CAGCAACCTCGTGACAGGTCT	0.552													13	160					0	0	0	0	A	74684020	G	A	74684020	3	1	460	1	0	0	0	0	1	0	0	0	10920	1145	40	1	1011	1	OIT3	10	74684020	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	10818	74684020	60850727	243	89403											
NRG3	10718	broad.mit.edu	37	chr10	84733592	84733592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgcattggagaaaatgatgGagtcaagttttgtcggcccc	10	11	12	8	1	1	2	1	1	0	1	2	4	1	3	2	3	1	2	2	3	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:84733592G>C	ENST00000372142.2	+	8	944	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	NRG3_ENST00000537893.1_Missense_Mutation_p.E95Q|NRG3_ENST00000556918.1_Missense_Mutation_p.E275Q|NRG3_ENST00000545131.1_Missense_Mutation_p.E95Q|NRG3_ENST00000404547.1_Missense_Mutation_p.E445Q|NRG3_ENST00000404576.2_Missense_Mutation_p.E249Q|NRG3_ENST00000372141.2_Missense_Mutation_p.E445Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	445	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAAATGATGGAGTCAAGTTT	0.488													26	31					0	0	0	0	C	84733592	G	C	84733592	3	2	460	1	0	0	0	0	1	0	0	0	10720	1175	41	2	1527	2	NRG3	10	84733592	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	10049572	84733592	50801155	244	89404											
AGAP11	119385	broad.mit.edu	37	chr10	88768140	88768140	+	RNA	SNP	G	G	C																															cgtgcacattacgaagaaaaGaaatggaggtgggagtttaa																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:88768140G>C	ENST00000444431.1	+	0	2740				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ACGAAGAAAAGAAATGGAGGT	0.463													49	76					0	0	0	0	C	88768140	G	C	88768140	1	2	460	0	1	0	0	0	0	0	0	0	367	942	33	2		2	AGAP11	10	88768140	RNA	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	4034548	88768140	46766607	245	89405	1104	2									
AGAP11	119385	broad.mit.edu	37	chr10	88768146	88768146	+	RNA	SNP	G	G	A																															cattacgaagaaaagaaatgGaggtgggagtttaaataact																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:88768146G>A	ENST00000444431.1	+	0	2746				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAAGAAATGGAGGTGGGAGT	0.473													45	81					0	0	0	0	A	88768146	G	A	88768146	1	1	460	0	1	0	0	0	0	0	0	0	367	1174	41	2		2	AGAP11	10	88768146	RNA	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6	88768146	46766601	246	89406	1104	2									
ANKRD1	27063	broad.mit.edu	37	chr10	92675632	92675632	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacatgcagcgctgtgctGagcaactggaaaattggaaa	13	7	12	9	1	0	1	0	1	0	0	0	3	0	3	1	2	5	4	1	2	4	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:92675632G>C	ENST00000371697.3	-	7	905	c.657C>G	c.(655-657)ctC>ctG	p.L219L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	219					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GCGCTGTGCTGAGCAACTGGA	0.557													11	20					0	0	0	0	C	92675632	G	C	92675632	2	2	460	1	0	0	0	0	0	0	0	1	637	1277	45	2		2	ANKRD1	10	92675632	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3907486	92675632	42859115	247	89407											
PLCE1	51196	broad.mit.edu	37	chr10	96022449	96022449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcctcgtgaattgccaagGagaacactgcacttatgatg	11	12	9	9	1	0	3	0	2	0	1	2	4	1	3	2	1	3	1	2	1	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:96022449G>T	ENST00000260766.3	+	14	4647	c.4013G>T	c.(4012-4014)gGa>gTa	p.G1338V	PLCE1_ENST00000371385.3_Missense_Mutation_p.G1030V|PLCE1_ENST00000371375.1_Missense_Mutation_p.G1030V|PLCE1_ENST00000371380.2_Missense_Mutation_p.G1338V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1338					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTGCCAAGGAGAACACTGC	0.458													14	124					0.00185496	0.00186802	1	0	T	96022449	G	T	96022449	3	4	460	1	0	0	0	0	1	0	0	0	12106	1174	41	2	4349	2	PLCE1	10	96022449	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3346817	96022449	39512298	248	89408											
PLCE1	51196	broad.mit.edu	37	chr10	96081712	96081712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggtgatcttgagctcaGaggaggagagtttctttgtc	10	12	14	5	0	3	5	1	2	2	3	4	7	3	6	0	3	1	2	0	3	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:96081712G>A	ENST00000260766.3	+	30	7031	c.6397G>A	c.(6397-6399)Gag>Aag	p.E2133K	PLCE1_ENST00000371385.3_Missense_Mutation_p.E1825K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1825K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E2133K|NOC3L_ENST00000543788.1_Intron	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2133					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTGAGCTCAGAGGAGGAGAG	0.408													26	41					0	0	0	0	A	96081712	G	A	96081712	3	1	460	1	0	0	0	0	1	0	0	0	12106	943	33	2	6797	2	PLCE1	10	96081712	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	59263	96081712	39453035	249	89409											
DNTT	1791	broad.mit.edu	37	chr10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaagaagaaatttttgCgcatctgggattggattata	14	13	11	3	1	1	3	0	1	1	2	1	5	1	5	0	2	1	1	0	2	6	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:98097935C>T	ENST00000419175.1	+	11	1651	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V	DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333													4	94					0	0	0	0	T	98097935	C	T	98097935	3	4	460	1	0	0	0	0	1	0	0	0	4716	768	27	1	1526	1	DNTT	10	98097935	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2016223	98097935	37436812	250	89410											
AVPI1	60370	broad.mit.edu	37	chr10	99439458	99439458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgcagcctcttgagggcctCagccacacggtggtcccctg	5	7	13	16	2	2	1	1	1	1	0	3	1	3	1	5	3	2	1	5	3	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:99439458C>G	ENST00000370626.3	-	2	772	c.205G>C	c.(205-207)Gag>Cag	p.E69Q		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	69					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		TTGAGGGCCTCAGCCACACGG	0.642													3	52					0	0	0	0	G	99439458	C	G	99439458	3	3	460	1	0	0	0	0	1	0	0	0	1234	835	29	2	246	2	AVPI1	10	99439458	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1341523	99439458	36095289	251	89411											
TACC2	10579	broad.mit.edu	37	chr10	123844321	123844321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgggccggcgtgtgatgCgtcgagacaggaatttcatg	7	8	16	10	6	1	2	1	1	0	1	2	4	1	3	2	3	1	0	2	3	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:123844321C>T	ENST00000369005.1	+	4	2646	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A769V|TACC2_ENST00000334433.3_Missense_Mutation_p.A769V|TACC2_ENST00000515603.1_Missense_Mutation_p.A769V|TACC2_ENST00000515273.1_Missense_Mutation_p.A769V|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	769						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCGTGTGATGCGTCGAGACAG	0.607													63	133					0	0	0	0	T	123844321	C	T	123844321	3	4	460	1	0	0	0	0	1	0	0	0	15593	768	27	1	2316	1	TACC2	10	123844321	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	24404863	123844321	11690426	252	89412											
MUC5B	727897	broad.mit.edu	37	chr11	1253704	1253704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacgcccggcactggtgctCgcgcctgaccgatcccaaca	7	6	10	18	5	0	1	0	1	0	0	2	2	1	1	4	2	3	2	4	2	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1253704C>T	ENST00000447027.1	+	16	1935	c.1877C>T	c.(1876-1878)tCg>tTg	p.S626L	MUC5B_ENST00000529681.1_Missense_Mutation_p.S623L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	623	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACTGGTGCTCGCGCCTGACC	0.667													9	15					0	0	0	0	T	1253704	C	T	1253704	3	4	460	1	0	0	0	0	1	0	0	0	10049	893	31	1	1939	1	MUC5B	11	1253704	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		1253704	133752812	253	89413											
MUC5B	727897	broad.mit.edu	37	chr11	1268886	1268886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgccggggccctctggCggggactttgacacctactc	5	8	12	16	2	1	1	0	1	1	0	2	2	1	2	4	5	2	0	4	5	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1268886C>T	ENST00000447027.1	+	31	10843	c.10785C>T	c.(10783-10785)ggC>ggT	p.G3595G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.G3592G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3592	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCCTCTGGCGGGGACTTTG	0.682													37	33					0	0	0	0	T	1268886	C	T	1268886	2	4	460	1	0	0	0	0	0	0	0	1	10049	755	27	1		1	MUC5B	11	1268886	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	15182	1268886	133737630	254	89414											
MUC5B	727897	broad.mit.edu	37	chr11	1275410	1275410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcacctatgtcctcatGagagagatccatgcacgctt	11	10	8	12	1	1	2	1	1	0	2	3	4	3	2	3	0	3	3	3	0	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1275410G>A	ENST00000447027.1	+	34	15373	c.15315G>A	c.(15313-15315)atG>atA	p.M5105I	MUC5B_ENST00000529681.1_Missense_Mutation_p.M5102I			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5102	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGTCCTCATGAGAGAGATCC	0.627													16	71					0	0	0	0	A	1275410	G	A	1275410	3	1	460	1	0	0	0	0	1	0	0	0	10049	1290	45	2	15449	2	MUC5B	11	1275410	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6524	1275410	133731106	255	89415											
OR51T1	401665	broad.mit.edu	37	chr11	4903513	4903513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgaccgcttcgtggctatCtgtaacccactgaactatgc	8	13	8	12	2	1	2	0	2	1	0	2	2	1	2	2	1	3	3	2	1	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:4903513C>T	ENST00000380378.1	+	1	465	c.465C>T	c.(463-465)atC>atT	p.I155I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.I128I	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTGGCTATCTGTAACCCAC	0.488													11	105					0	0	0	0	T	4903513	C	T	4903513	2	4	460	1	0	0	0	0	0	0	0	1	11177	903	32	2		2	OR51T1	11	4903513	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3628103	4903513	130103003	256	89416											
OR56A3	390083	broad.mit.edu	37	chr11	5969316	5969316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccctaagcacatgtggctCccacttcatgctcatcctct	7	11	7	16	0	3	0	2	0	1	0	5	0	5	0	3	2	2	3	3	2	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:5969316C>T	ENST00000329564.6	+	1	747	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTGGCTCCCACTTCATG	0.522													116	155					0	0	0	0	T	5969316	C	T	5969316	3	4	460	1	0	0	0	0	1	0	0	0	11205	855	30	2	742	2	OR56A3	11	5969316	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1065803	5969316	129037200	257	89417											
SBF2	81846	broad.mit.edu	37	chr11	10013999	10013999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatctataaggaggacctCtttctgaaacaaaacctgca	16	9	7	9	0	3	2	0	1	3	1	3	4	3	4	2	2	3	1	2	2	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:10013999C>G	ENST00000256190.8	-	12	1396	c.1259G>C	c.(1258-1260)aGa>aCa	p.R420T		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	420	dDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGGAGGACCTCTTTCTGAAAC	0.368													7	32					0	0	0	0	G	10013999	C	G	10013999	3	3	460	1	0	0	0	0	1	0	0	0	13945	913	32	2	4406	2	SBF2	11	10013999	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4044683	10013999	124992517	258	89418											
PIK3C2A	5286	broad.mit.edu	37	chr11	17191186	17191186	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttgctaaagcctctgcttCcatctgtaatgcttcttctt	6	19	5	11	0	4	0	0	0	4	0	5	0	5	0	2	0	4	4	2	0	3	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:17191186C>A	ENST00000265970.7	-	1	102	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	35	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GCCTCTGCTTCCATCTGTAAT	0.423													65	102					1.1362e-29	1.19688e-29	1	0	A	17191186	C	A	17191186	4	1	460	1	0	0	0	0	0	1	0	0	11981	864	30	2	5085	2	PIK3C2A	11	17191186	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7177187	17191186	117815330	259	89419											
ABCC8	6833	broad.mit.edu	37	chr11	17474681	17474681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacctgtattgctcctctCaagttaattccagtttcaat	10	16	5	10	0	2	0	2	0	1	0	5	0	4	0	3	0	2	5	3	0	5	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:17474681C>G	ENST00000302539.4	-	7	1286	c.1161G>C	c.(1159-1161)ttG>ttC	p.L387F	ABCC8_ENST00000389817.3_Missense_Mutation_p.L387F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	387	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTGCTCCTCTCAAGTTAATTC	0.408													36	65					0	0	0	0	G	17474681	C	G	17474681	3	3	460	1	0	0	0	0	1	0	0	0	58	825	29	2	3716	2	ABCC8	11	17474681	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	283495	17474681	117531835	260	89420											
HPS5	11234	broad.mit.edu	37	chr11	18301483	18301483	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcaagcatgctttgtatCaaggccctgaaatcccaaag	12	12	7	10	0	2	1	2	1	0	0	3	1	3	1	2	1	2	3	2	1	5	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:18301483C>G	ENST00000537258.1	-	6	956	c.791G>C	c.(790-792)tGa>tCa	p.*264S	HPS5_ENST00000349215.3_Missense_Mutation_p.L1112F|HPS5_ENST00000396253.3_Missense_Mutation_p.L998F|HPS5_ENST00000438420.2_Missense_Mutation_p.L998F			Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	0						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCTTTGTATCAAGGCCCTGA	0.383									Hermansky-Pudlak syndrome				5	54					0	0	0	0	G	18301483	C	G	18301483	4	3	460	1	0	0	0	0	0	0	0	0	7392	825	29	2	57	2	HPS5	11	18301483	Nonstop_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	826802	18301483	116705033	261	89421											
NELL1	4745	broad.mit.edu	37	chr11	21556037	21556037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgacgatgggacctattCactgtccggggagtcctgta	8	10	12	11	2	1	1	1	1	0	0	3	4	3	3	4	3	0	1	4	3	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:21556037C>T	ENST00000298925.5	+	17	2000	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.S531L|NELL1_ENST00000357134.5_Missense_Mutation_p.S588L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	588	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGACCTATTCACTGTCCGGG	0.542													37	60					0	0	0	0	T	21556037	C	T	21556037	3	4	460	1	0	0	0	0	1	0	0	0	10403	838	29	2	1825	2	NELL1	11	21556037	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3254554	21556037	113450479	262	89422											
ABTB2	25841	broad.mit.edu	37	chr11	34174075	34174075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgctccagtagggccttCatgtgcttgaggaagaagcc	8	10	12	11	0	1	2	1	1	0	1	3	3	3	3	4	2	3	3	4	2	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34174075C>T	ENST00000435224.2	-	17	3361	c.2937G>A	c.(2935-2937)atG>atA	p.M979I	ABTB2_ENST00000298992.2_Missense_Mutation_p.M793I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	793							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTAGGGCCTTCATGTGCTTGA	0.597													14	88					0	0	0	0	T	34174075	C	T	34174075	3	4	460	1	0	0	0	0	1	0	0	0	103	826	29	2	144	2	ABTB2	11	34174075	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	12618038	34174075	100832441	263	89423											
ABTB2	25841	broad.mit.edu	37	chr11	34175833	34175833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcatatttgtaggtgttCacggcactctccatgctgag	7	14	11	9	1	2	1	1	1	1	0	3	1	2	1	1	3	1	5	1	3	2	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34175833C>T	ENST00000435224.2	-	16	3283	c.2859G>A	c.(2857-2859)gtG>gtA	p.V953V	ABTB2_ENST00000298992.2_Silent_p.V767V	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	767							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGTAGGTGTTCACGGCACTCT	0.632													8	106					0	0	0	0	T	34175833	C	T	34175833	2	4	460	1	0	0	0	0	0	0	0	1	103	813	29	2		2	ABTB2	11	34175833	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1758	34175833	100830683	264	89424											
ABTB2	25841	broad.mit.edu	37	chr11	34182628	34182628	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtgcagcttccaggggactCctggtccaggcagggaaggg	7	7	17	10	0	0	0	0	0	0	0	3	2	3	2	3	6	2	3	3	6	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34182628C>G	ENST00000435224.2	-	11	2643	c.2218_splice	c.e11-1	p.G740_splice	ABTB2_ENST00000298992.2_Splice_Site_p.G554_splice	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	554							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCAGGGGACTCCTGGTCCAGG	0.647													11	73					0	0	0	0	G	34182628	C	G	34182628	5	3	460	1	0	0	0	0	0	0	1	0	103	869	30	2	886	2	ABTB2	11	34182628	Splice_Site	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6795	34182628	100823888	265	89425											
EHF	26298	broad.mit.edu	37	chr11	34678466	34678466	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccttagcagagtcacctGatatgaaaaaggagcaagac	15	8	9	9	0	2	4	1	2	1	2	3	5	2	5	2	1	2	2	2	1	5	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34678466G>C	ENST00000257831.3	+	7	677	c.556G>C	c.(556-558)Gat>Cat	p.D186H	EHF_ENST00000530286.1_Missense_Mutation_p.D186H|EHF_ENST00000533754.1_Missense_Mutation_p.D186H|EHF_ENST00000450654.2_Missense_Mutation_p.D163H|EHF_ENST00000531794.1_Missense_Mutation_p.D208H	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	186					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AGAGTCACCTGATATGAAAAA	0.418													15	99					0	0	0	0	C	34678466	G	C	34678466	3	2	460	1	0	0	0	0	1	0	0	0	5017	1290	45	2	578	2	EHF	11	34678466	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	495838	34678466	100328050	266	89426											
CD44	960	broad.mit.edu	37	chr11	35227665	35227665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcatggtcacagcagcctCagctcataccagccatccaa	11	7	7	16	0	3	0	3	0	0	0	4	0	4	0	4	1	6	3	4	1	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:35227665C>T	ENST00000428726.2	+	11	1412	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S387L|CD44_ENST00000437706.2_Missense_Mutation_p.S430L|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S431L|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.S387L	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	430	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ACAGCAGCCTCAGCTCATACC	0.453													28	159					0	0	0	0	T	35227665	C	T	35227665	3	4	460	1	0	0	0	0	1	0	0	0	3046	838	29	2	1331	2	CD44	11	35227665	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	549199	35227665	99778851	267	89427											
LRRC4C	57689	broad.mit.edu	37	chr11	40137439	40137439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcgggatggtagtaagaCgattgtcaaagagttccaga	13	10	12	6	2	1	3	1	0	0	3	3	5	2	4	1	2	0	3	1	2	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:40137439C>A	ENST00000278198.2	-	2	2367	c.404G>T	c.(403-405)cGt>cTt	p.R135L	LRRC4C_ENST00000528697.1_Missense_Mutation_p.R135L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R135L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R135L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	135					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTAGTAAGACGATTGTCAAA	0.428													23	41					1.10513e-12	1.13694e-12	1	0	A	40137439	C	A	40137439	3	1	460	1	0	0	0	0	1	0	0	0	9072	536	19	3	1522	3	LRRC4C	11	40137439	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4909774	40137439	94869077	268	89428											
PACSIN3	29763	broad.mit.edu	37	chr11	47199930	47199930	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtacctgctcggaagctCagctcatcagcttcctggcc	7	9	11	14	1	3	0	3	0	0	0	5	1	4	1	3	3	5	5	3	3	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:47199930C>A	ENST00000539589.1	-	10	1488	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	PACSIN3_ENST00000298838.6_Silent_p.L382L	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	382	SH3.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCGGAAGCTCAGCTCATCAG	0.582													42	87					9.84934e-19	1.03373e-18	1	0	A	47199930	C	A	47199930	2	1	460	1	0	0	0	0	0	0	0	1	11447	813	29	2		2	PACSIN3	11	47199930	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7062491	47199930	87806586	269	89429											
NUP160	23279	broad.mit.edu	37	chr11	47814401	47814401	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaataagtcgtaaacaattGagagcagccagataacagtt	17	8	9	7	2	0	2	0	1	0	2	1	4	0	2	1	0	4	3	1	0	6	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:47814401G>T	ENST00000378460.2	-	28	3433	c.3387C>A	c.(3385-3387)ctC>ctA	p.L1129L	NUP160_ENST00000528071.1_Silent_p.L1015L|NUP160_ENST00000530326.1_Silent_p.L1015L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1129					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTAAACAATTGAGAGCAGCCA	0.468													75	108					4.66136e-34	4.92847e-34	1	0	T	47814401	G	T	47814401	2	4	460	1	0	0	0	0	0	0	0	1	10828	1277	45	2		2	NUP160	11	47814401	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	614471	47814401	87192115	270	89430											
EML3	256364	broad.mit.edu	37	chr11	62373366	62373366	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgggccaggtctcccctCagcaatgcattcttcgtggt	5	11	10	15	1	3	0	1	0	2	0	5	0	3	0	4	3	2	2	4	3	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:62373366C>G	ENST00000394773.2	-	14	2050	c.1743G>C	c.(1741-1743)ctG>ctC	p.L581L	EML3_ENST00000278845.4_Silent_p.L582L|EML3_ENST00000529309.1_Silent_p.L581L|EML3_ENST00000531557.1_Silent_p.L364L|EML3_ENST00000494176.2_Silent_p.L553L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	581						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTCCCCTCAGCAATGCAT	0.612													39	120					0	0	0	0	G	62373366	C	G	62373366	2	3	460	1	0	0	0	0	0	0	0	1	5136	813	29	2		2	EML3	11	62373366	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	14558965	62373366	72633150	271	89431											
SLC22A6	9356	broad.mit.edu	37	chr11	62744281	62744281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcctcagagtccattcttCtcttgtgctgaggcctgcag	6	13	10	12	0	3	2	1	1	2	1	6	2	5	2	3	1	2	2	3	1	0	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:62744281C>T	ENST00000377871.3	-	10	1943	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	SLC22A6_ENST00000360421.4_Silent_p.E546E|SLC22A6_ENST00000421062.2_Silent_p.E515E|SLC22A6_ENST00000458333.2_Silent_p.E502E	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	559					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTCCATTCTTCTCTTGTGCTG	0.557													4	10					0	0	0	0	T	62744281	C	T	62744281	2	4	460	1	0	0	0	0	0	0	0	1	14546	912	32	2		2	SLC22A6	11	62744281	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	370915	62744281	72262235	272	89432											
MAP3K11	4296	broad.mit.edu	37	chr11	65365776	65365776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccactcaaggccccgcttCcggcacccacggggcctggg	5	4	13	19	3	1	0	1	0	0	0	2	0	2	0	6	5	0	2	6	5	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:65365776C>T	ENST00000309100.3	-	10	3015	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K	MAP3K11_ENST00000530153.1_Missense_Mutation_p.E587K|MAP3K11_ENST00000532507.1_Missense_Mutation_p.E260K	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	844					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGCCCCGCTTCCGGCACCCAC	0.677													6	15					0	0	0	0	T	65365776	C	T	65365776	3	4	460	1	0	0	0	0	1	0	0	0	9314	864	30	2	17	2	MAP3K11	11	65365776	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2621495	65365776	69640740	273	89433											
CNIH2	254263	broad.mit.edu	37	chr11	66049742	66049742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccccagatcatagcctttGatgagctgcggaccgacttc	8	10	9	14	2	1	3	1	2	0	1	3	5	2	4	4	1	3	1	4	1	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:66049742G>C	ENST00000528852.1	+	2	361	c.94G>C	c.(94-96)Gat>Cat	p.D32H	CNIH2_ENST00000311445.6_Missense_Mutation_p.D32H|CNIH2_ENST00000530519.1_3'UTR			Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	32					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CATAGCCTTTGATGAGCTGCG	0.592													37	55					0	0	0	0	C	66049742	G	C	66049742	3	2	460	1	0	0	0	0	1	0	0	0	3633	1290	45	2	100	2	CNIH2	11	66049742	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	683966	66049742	68956774	274	89434											
CTSF	8722	broad.mit.edu	37	chr11	66332090	66332090	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caagggctgcagaggggccgGagagggcgggagatcccgtg	8	3	21	9	3	0	3	0	0	0	3	1	5	1	3	2	6	1	2	2	6	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:66332090G>A	ENST00000310325.5	-	11	1369	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	420					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGAGGGGCCGGAGAGGGCGGG	0.622													6	26					0	0	0	0	A	66332090	G	A	66332090	2	1	460	1	0	0	0	0	0	0	0	1	4066	1161	41	2		2	CTSF	11	66332090	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	282348	66332090	68674426	275	89435											
C2CD3	26005	broad.mit.edu	37	chr11	73872581	73872581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcaagtttggtgattacttCcagcaccagcacagccatat	12	11	7	11	0	1	1	1	1	0	0	2	1	2	1	3	1	4	3	3	1	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:73872581C>T	ENST00000334126.7	-	3	572	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E116K|C2CD3_ENST00000539061.1_Missense_Mutation_p.E116K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	116						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGATTACTTCCAGCACCAGC	0.363													51	33					0	0	0	0	T	73872581	C	T	73872581	3	4	460	1	0	0	0	0	1	0	0	0	2174	864	30	2	5661	2	C2CD3	11	73872581	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7540491	73872581	61133935	276	89436											
OR10G7	390265	broad.mit.edu	37	chr11	123908941	123908941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcctggcctcaggtaaatGaaaagaccagggccaaagaa	16	4	12	9	0	1	3	1	1	0	2	1	4	1	3	4	3	1	1	4	3	6	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:123908941G>A	ENST00000330487.5	-	1	776	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAGGTAAATGAAAAGACCAG	0.567													8	45					0	0	0	0	A	123908941	G	A	123908941	2	1	460	1	0	0	0	0	0	0	0	1	10973	1281	45	2		2	OR10G7	11	123908941	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	50036360	123908941	11097575	277	89437											
C1S	716	broad.mit.edu	37	chr12	7174976	7174976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcattcctgaatccattGagaatggtaaagttgaagac	13	11	11	6	0	0	4	0	3	0	2	2	5	2	4	2	2	0	3	2	2	5	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:7174976G>A	ENST00000406697.1	+	13	1724	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.E199K|C1S_ENST00000360817.5_Missense_Mutation_p.E366K|C1S_ENST00000328916.3_Missense_Mutation_p.E366K			P09871	C1S_HUMAN	complement component 1, s subcomponent	366	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGAATCCATTGAGAATGGTAA	0.502													137	209					0	0	0	0	A	7174976	G	A	7174976	3	1	460	1	0	0	0	0	1	0	0	0	1993	1291	45	2	1130	2	C1S	12	7174976	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		7174976	126676919	278	89438											
EPS8	2059	broad.mit.edu	37	chr12	15794688	15794688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctttagaaccgagagctCactgttgttccttgctacaa	10	13	7	11	1	1	2	1	0	0	2	3	3	3	2	3	0	4	4	3	0	4	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:15794688C>T	ENST00000281172.5	-	16	2081	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K	EPS8_ENST00000540613.1_Missense_Mutation_p.E289K|EPS8_ENST00000543612.1_Missense_Mutation_p.E549K|EPS8_ENST00000542903.1_Missense_Mutation_p.E289K|EPS8_ENST00000543523.1_Missense_Mutation_p.E549K	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	549	SH3.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACCGAGAGCTCACTGTTGTTC	0.274													4	53					0	0	0	0	T	15794688	C	T	15794688	3	4	460	1	0	0	0	0	1	0	0	0	5232	835	29	2	847	2	EPS8	12	15794688	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	8619712	15794688	118057207	279	89439											
KCNH3	23416	broad.mit.edu	37	chr12	49951477	49951477	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctttctggacctccacctCagactcagagccccctgcct	7	9	7	18	0	3	2	2	0	1	2	4	3	4	3	6	1	3	1	6	1	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:49951477C>G	ENST00000257981.6	+	15	3253	c.2993C>G	c.(2992-2994)tCa>tGa	p.S998*		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	998	Pro-rich.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCTCCACCTCAGACTCAGAG	0.692													45	77					0	0	0	0	G	49951477	C	G	49951477	4	3	460	1	0	0	0	0	0	1	0	0	8086	838	29	2	3051	2	KCNH3	12	49951477	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	34156789	49951477	83900418	280	89440											
ANKRD33	341405	broad.mit.edu	37	chr12	52282038	52282038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtccacctggaggcattcgGagacccagtgattgtgctcc	8	9	12	12	1	0	2	0	1	0	1	3	4	2	3	4	3	1	2	4	3	0	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:52282038G>A	ENST00000301190.6	+	1	295	c.68G>A	c.(67-69)gGa>gAa	p.G23E	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GAGGCATTCGGAGACCCAGTG	0.572													59	113					0	0	0	0	A	52282038	G	A	52282038	3	1	460	1	0	0	0	0	1	0	0	0	660	1174	41	2	70	2	ANKRD33	12	52282038	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2330561	52282038	81569857	281	89441											
KRT75	9119	broad.mit.edu	37	chr12	52818532	52818532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactggaaagagtagaggtGaccacagctgccgggaagag	13	4	15	9	1	0	4	0	1	0	3	0	6	0	6	3	3	2	2	3	3	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:52818532G>A	ENST00000252245.5	-	9	1645	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	475	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGTAGAGGTGACCACAGCTG	0.617													10	183					0	0	0	0	A	52818532	G	A	52818532	2	1	460	1	0	0	0	0	0	0	0	1	8540	1277	45	2		2	KRT75	12	52818532	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	536494	52818532	81033363	282	89442											
KRT76	51350	broad.mit.edu	37	chr12	53169247	53169247	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccctctcccctagaagtGaatctagctgcttgcatagg	8	11	8	14	0	2	2	0	1	2	1	4	2	3	2	4	1	3	3	4	1	5	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:53169247G>C	ENST00000332411.2	-	2	793	c.740C>G	c.(739-741)tCa>tGa	p.S247*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	247	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCTAGAAGTGAATCTAGCTG	0.542													97	159					0	0	0	0	C	53169247	G	C	53169247	4	2	460	1	0	0	0	0	0	1	0	0	8541	1294	45	2	1208	2	KRT76	12	53169247	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	350715	53169247	80682648	283	89443											
ERBB3	2065	broad.mit.edu	37	chr12	56482389	56482389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctgacaagatggaagtaGataaaaatgggctcaagatg	16	8	11	6	0	1	4	1	1	0	3	2	5	2	5	1	2	0	2	1	2	7	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:56482389G>C	ENST00000267101.3	+	8	1377	c.937G>C	c.(937-939)Gat>Cat	p.D313H	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D254H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	313					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGGAAGTAGATAAAAATGG	0.483													81	195					0	0	0	0	C	56482389	G	C	56482389	3	2	460	1	0	0	0	0	1	0	0	0	5246	942	33	2	1098	2	ERBB3	12	56482389	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3313142	56482389	77369506	284	89444											
GLI1	2735	broad.mit.edu	37	chr12	57865022	57865022	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaggactggcaccctgcctCaatgcccaccccagtgaggg	9	5	11	16	0	1	1	1	1	0	0	1	2	1	2	5	3	2	1	5	3	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:57865022C>G	ENST00000228682.2	+	12	2590	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L	GLI1_ENST00000543426.1_Silent_p.L705L|GLI1_ENST00000546141.1_Silent_p.L792L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	833					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACCCTGCCTCAATGCCCACC	0.592													12	128					0	0	0	0	G	57865022	C	G	57865022	2	3	460	1	0	0	0	0	0	0	0	1	6488	813	29	2		2	GLI1	12	57865022	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1382633	57865022	75986873	285	89445											
LRIG3	121227	broad.mit.edu	37	chr12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G																															ctgctattgtcaatatggcaINSggtccctttgaaacaaaaat																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acgccafs	p.P901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								7	105	---	---	---	---					G	59268351	-	G	59268350	7	5	460	1	0	1	1	0	0	0	0	0	9010	188	7	0	670	0	LRIG3	12	59268350	Frame_Shift_Ins	INS	-	TCGA-P3-A5QF-01A-11D-A28R-08	1403328	59268350	74583545	286	89446											
SRGAP1	57522	broad.mit.edu	37	chr12	64437226	64437226	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggatcttcttcattccaGagacaagcaaaatattcaga	14	11	6	10	0	4	2	2	0	2	2	5	4	5	3	2	1	1	1	2	1	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:64437226G>A	ENST00000355086.3	+	6	1196		c.e6-1		SRGAP1_ENST00000357825.3_Splice_Site|SRGAP1_ENST00000543397.1_Splice_Site|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1						axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCATTCCAGAGACAAGCAA	0.338													22	23					0	0	0	0	A	64437226	G	A	64437226	5	1	460	1	0	0	0	0	0	0	1	0	15235	956	33	2	694	2	SRGAP1	12	64437226	Splice_Site	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5168876	64437226	69414669	287	89447											
HELB	92797	broad.mit.edu	37	chr12	66712489	66712489	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatccaacattacccatctCaattcaagataagacattta	17	12	2	10	0	2	2	2	0	1	2	4	2	3	2	2	0	2	0	2	0	7	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:66712489C>G	ENST00000247815.4	+	7	2131	c.2072C>G	c.(2071-2073)tCa>tGa	p.S691*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	691					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTACCCATCTCAATTCAAGAT	0.338													31	51					0	0	0	0	G	66712489	C	G	66712489	4	3	460	1	0	0	0	0	0	1	0	0	7095	838	29	2	2098	2	HELB	12	66712489	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2275263	66712489	67139406	288	89448											
SYT1	6857	broad.mit.edu	37	chr12	79837863	79837863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcattcagatccttatgtGaagattcatctgatgcagaa	12	15	7	7	0	4	5	3	2	1	3	5	5	5	5	1	0	1	1	1	0	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:79837863G>A	ENST00000261205.4	+	10	1596	c.939G>A	c.(937-939)gtG>gtA	p.V313V	RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Silent_p.V310V|SYT1_ENST00000393240.3_Silent_p.V313V|SYT1_ENST00000552744.1_Silent_p.V313V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	313	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATCCTTATGTGAAGATTCATC	0.338													4	70					0	0	0	0	A	79837863	G	A	79837863	2	1	460	1	0	0	0	0	0	0	0	1	15556	1277	45	2		2	SYT1	12	79837863	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	13125374	79837863	54014032	289	89449											
PPP1R12A	4659	broad.mit.edu	37	chr12	80182559	80182559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgatgtagaactggtttCatatcttcaaaagattaatt	14	15	7	5	0	3	3	2	1	1	2	3	3	3	3	0	1	2	3	0	1	6	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:80182559C>T	ENST00000450142.2	-	21	2937	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E891K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E835K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E804K|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E891K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	891						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAACTGGTTTCATATCTTCAA	0.343													5	15					0	0	0	0	T	80182559	C	T	80182559	3	4	460	1	0	0	0	0	1	0	0	0	12430	835	29	2	441	2	PPP1R12A	12	80182559	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	344696	80182559	53669336	290	89450											
CEP290	80184	broad.mit.edu	37	chr12	88533332	88533332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagccagctccacttcttGagctttcatctaaacattaa	13	12	4	12	0	3	1	1	1	2	0	4	1	4	1	2	0	4	2	2	0	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:88533332G>C	ENST00000552810.1	-	4	533	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	CEP290_ENST00000309041.7_Missense_Mutation_p.Q64E	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	64					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCCACTTCTTGAGCTTTCATC	0.299													9	21					0	0	0	0	C	88533332	G	C	88533332	3	2	460	1	0	0	0	0	1	0	0	0	3282	1299	45	2	7453	2	CEP290	12	88533332	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	8350773	88533332	45318563	291	89451											
UTP20	27340	broad.mit.edu	37	chr12	101679386	101679386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttgagggtctgctgaaatgGagagaattaaacctcacaga	14	10	11	6	0	2	4	1	2	1	2	2	6	2	5	1	2	2	1	1	2	4	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:101679386G>C	ENST00000261637.4	+	3	339	c.165G>C	c.(163-165)tgG>tgC	p.W55C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	55					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCTGAAATGGAGAGAATTAA	0.343													26	49					0	0	0	0	C	101679386	G	C	101679386	3	2	460	1	0	0	0	0	1	0	0	0	17195	1183	41	2	175	2	UTP20	12	101679386	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	13146054	101679386	32172509	292	89452											
ALDH1L2	160428	broad.mit.edu	37	chr12	105420516	105420516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcgctgcaacactccatcGatgtccctgtgtttttagga	7	13	9	12	2	0	0	0	0	0	0	4	2	2	1	2	1	2	4	2	1	2	3	rs143634333		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:105420516G>A	ENST00000258494.9	-	22	2663	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	841	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	p.I841I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACACTCCATCGATGTCCCTGT	0.368													44	154					0	0	0	0	A	105420516	G	A	105420516	2	1	460	1	0	0	0	0	0	0	0	1	495	1048	37	1		1	ALDH1L2	12	105420516	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3741130	105420516	28431379	293	89453											
HVCN1	84329	broad.mit.edu	37	chr12	111093078	111093078	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcgggctggatgatcttCaggtccaggatgagctcagc	7	11	14	9	1	3	2	2	2	1	0	5	4	4	4	1	4	2	2	1	4	0	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111093078C>G	ENST00000356742.5	-	4	1125	c.372G>C	c.(370-372)ctG>ctC	p.L124L	HVCN1_ENST00000548312.1_Silent_p.L124L|HVCN1_ENST00000242607.8_Silent_p.L124L|HVCN1_ENST00000439744.2_Silent_p.L104L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	124					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGATGATCTTCAGGTCCAGGA	0.517													26	63					0	0	0	0	G	111093078	C	G	111093078	2	3	460	1	0	0	0	0	0	0	0	1	7515	813	29	2		2	HVCN1	12	111093078	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	5672562	111093078	22758817	294	89454			3	146		4	4	6078	N	G_C	9.665551e-05
HVCN1	84329	broad.mit.edu	37	chr12	111098971	111098971	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcctgccccacctacctGaaacctgtgggagctgaaca	10	7	9	15	0	0	2	0	2	0	0	1	4	1	3	6	1	5	1	6	1	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111098971G>A	ENST00000356742.5	-	3	1057	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	HVCN1_ENST00000548312.1_Nonsense_Mutation_p.Q102*|HVCN1_ENST00000242607.8_Nonsense_Mutation_p.Q102*|HVCN1_ENST00000439744.2_Nonsense_Mutation_p.Q82*			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	102					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCACCTACCTGAAACCTGTGG	0.657													45	132					0	0	0	0	A	111098971	G	A	111098971	4	1	460	1	0	0	0	0	0	1	0	0	7515	1299	45	2	537	2	HVCN1	12	111098971	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5893	111098971	22752924	295	89455			3	146		4	4	6078	N	G_C	9.665551e-05
HVCN1	84329	broad.mit.edu	37	chr12	111098987	111098987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgaaacctgtgggagctGaacagtttcctcaacatgcc	11	9	9	12	0	1	2	1	2	0	0	2	3	2	3	4	1	5	2	4	1	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111098987G>A	ENST00000356742.5	-	3	1041	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HVCN1_ENST00000548312.1_Silent_p.F96F|HVCN1_ENST00000242607.8_Silent_p.F96F|HVCN1_ENST00000439744.2_Silent_p.F76F			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	96					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGTGGGAGCTGAACAGTTTCC	0.667													46	124					0	0	0	0	A	111098987	G	A	111098987	2	1	460	1	0	0	0	0	0	0	0	1	7515	1281	45	2		2	HVCN1	12	111098987	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	16	111098987	22752908	296	89456			3	146		4	4	6078	N	G_C	9.665551e-05
HVCN1	84329	broad.mit.edu	37	chr12	111099155	111099155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcccatttcttgtagttGatgttccaggcatggtagtc	6	17	9	9	0	2	1	0	1	2	0	5	1	3	1	2	2	0	5	2	2	2	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111099155G>A	ENST00000356742.5	-	3	873	c.120C>T	c.(118-120)atC>atT	p.I40I	HVCN1_ENST00000548312.1_Silent_p.I40I|HVCN1_ENST00000242607.8_Silent_p.I40I|HVCN1_ENST00000439744.2_Silent_p.I20I			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	40					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TCTTGTAGTTGATGTTCCAGG	0.592													19	62					0	0	0	0	A	111099155	G	A	111099155	2	1	460	1	0	0	0	0	0	0	0	1	7515	1280	45	2		2	HVCN1	12	111099155	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	168	111099155	22752740	297	89457			3	146		4	4	6078	N	G_C	9.665551e-05
PPP1CC	5501	broad.mit.edu	37	chr12	111168434	111168434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattttgtaggccagtaaGaggcagatcgtctccaatga	11	13	10	7	1	1	3	0	1	1	2	3	3	1	3	2	2	0	3	2	2	4	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111168434G>A	ENST00000335007.5	-	3	508	c.318C>T	c.(316-318)ctC>ctT	p.L106L	PPP1CC_ENST00000551676.1_Silent_p.L106L|PPP1CC_ENST00000550991.1_Silent_p.L106L|PPP1CC_ENST00000546933.1_Silent_p.L115L|PPP1CC_ENST00000340766.5_Silent_p.L106L	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	106					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						AGGCCAGTAAGAGGCAGATCG	0.418													29	49					0	0	0	0	A	111168434	G	A	111168434	2	1	460	1	0	0	0	0	0	0	0	1	12427	929	33	2		2	PPP1CC	12	111168434	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	69279	111168434	22683461	298	89458											
SBNO1	55206	broad.mit.edu	37	chr12	123810124	123810124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttctagcttctcctgtaGactgcagaccaattacaaca	12	12	6	11	0	2	2	0	0	2	2	3	2	2	2	2	0	4	4	2	0	5	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123810124G>C	ENST00000420886.2	-	14	1897	c.1898C>G	c.(1897-1899)tCt>tGt	p.S633C	SBNO1_ENST00000602750.1_Missense_Mutation_p.S632C|SBNO1_ENST00000267176.4_Missense_Mutation_p.S632C|SBNO1_ENST00000602398.1_Missense_Mutation_p.S633C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	633							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCTCCTGTAGACTGCAGACC	0.333													12	243					0	0	0	0	C	123810124	G	C	123810124	3	2	460	1	0	0	0	0	1	0	0	0	13948	942	33	2	2355	2	SBNO1	12	123810124	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	12641690	123810124	10041771	299	89459											
SBNO1	55206	broad.mit.edu	37	chr12	123812020	123812020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgtagctctgagaaagaaGaacttcctcaattttgaagg	15	10	9	7	1	2	4	1	2	1	3	3	5	3	4	1	1	3	2	1	1	7	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123812020G>A	ENST00000420886.2	-	12	1644	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	SBNO1_ENST00000602750.1_Missense_Mutation_p.L548F|SBNO1_ENST00000267176.4_Missense_Mutation_p.L548F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L549F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	549							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGAGAAAGAAGAACTTCCTCA	0.358													4	58					0	0	0	0	A	123812020	G	A	123812020	3	1	460	1	0	0	0	0	1	0	0	0	13948	942	33	2	2616	2	SBNO1	12	123812020	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1896	123812020	10039875	300	89460											
SBNO1	55206	broad.mit.edu	37	chr12	123832659	123832659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcggtctccaaacctagttCtaatgcactaagtggcactg	10	12	8	11	1	2	0	0	0	2	0	4	0	2	0	2	2	2	3	2	2	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123832659C>T	ENST00000420886.2	-	2	153	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	SBNO1_ENST00000602750.1_Missense_Mutation_p.E52K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E52K|SBNO1_ENST00000602398.1_Missense_Mutation_p.E52K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	52							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AAACCTAGTTCTAATGCACTA	0.383													13	14					0	0	0	0	T	123832659	C	T	123832659	3	4	460	1	0	0	0	0	1	0	0	0	13948	922	32	2	4147	2	SBNO1	12	123832659	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	20639	123832659	10019236	301	89461											
DNAH10	196385	broad.mit.edu	37	chr12	124416584	124416584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atatctggagaaggcttgctCctgacaccttaaagtccctt	10	12	8	11	0	1	2	0	1	1	1	3	3	3	2	3	2	1	2	3	2	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:124416584C>T	ENST00000409039.3	+	75	12896	c.12871C>T	c.(12871-12873)Cct>Tct	p.P4291S	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4291					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGCTTGCTCCTGACACCTT	0.507													47	61					0	0	0	0	T	124416584	C	T	124416584	3	4	460	1	0	0	0	0	1	0	0	0	4635	855	30	2	13169	2	DNAH10	12	124416584	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	583925	124416584	9435311	302	89462											
NCOR2	9612	broad.mit.edu	37	chr12	124882689	124882689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggctgtttccatttcttCttctgtccagcgagaactct	5	17	7	12	1	4	1	0	0	4	1	6	2	6	1	2	1	2	2	2	1	1	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:124882689C>G	ENST00000356219.3	-	17	2007	c.1852G>C	c.(1852-1854)Gaa>Caa	p.E618Q	NCOR2_ENST00000397355.1_Missense_Mutation_p.E618Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.E188Q|NCOR2_ENST00000405201.1_Missense_Mutation_p.E618Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.E617Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.E617Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	618	SANT 2.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCATTTCTTCTTCTGTCCAG	0.557													33	84					0	0	0	0	G	124882689	C	G	124882689	3	3	460	1	0	0	0	0	1	0	0	0	10306	922	32	2	5844	2	NCOR2	12	124882689	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	466105	124882689	8969206	303	89463											
STX2	2054	broad.mit.edu	37	chr12	131285791	131285791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtccttgtgacgtgactcGatttcattgagagcttgtct	7	16	10	8	2	2	3	1	3	1	1	4	5	3	3	1	0	1	1	1	0	0	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:131285791G>A	ENST00000261653.6	-	8	748	c.582C>T	c.(580-582)atC>atT	p.I194I	STX2_ENST00000392373.2_Silent_p.I194I	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	194	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GACGTGACTCGATTTCATTGA	0.368													19	51					0	0	0	0	A	131285791	G	A	131285791	2	1	460	1	0	0	0	0	0	0	0	1	15435	1048	37	1		1	STX2	12	131285791	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6403102	131285791	2566104	304	89464											
ZNF10	7556	broad.mit.edu	37	chr12	133732317	133732317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagtacttactcaggagaGagtctctgaaagtggtaaat	15	10	11	5	0	2	2	1	1	1	1	3	5	2	3	0	2	2	2	0	2	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:133732317G>C	ENST00000248211.6	+	5	707	c.485G>C	c.(484-486)aGa>aCa	p.R162T	ZNF10_ENST00000426665.2_Missense_Mutation_p.R162T|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	162				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTCAGGAGAGAGTCTCTGAA	0.413													20	74					0	0	0	0	C	133732317	G	C	133732317	3	2	460	1	0	0	0	0	1	0	0	0	17807	942	33	2	499	2	ZNF10	12	133732317	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2446526	133732317	119578	305	89465											
SACS	26278	broad.mit.edu	37	chr13	23929020	23929020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattttcatcaagttctgaGaagtacacctgctccaacct	13	12	5	11	0	3	1	2	1	1	1	4	2	4	1	3	0	3	3	3	0	5	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:23929020G>A	ENST00000382298.3	-	8	2319	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.F577F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	577					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTTCTGAGAAGTACACCT	0.463													45	88					0	0	0	0	A	23929020	G	A	23929020	2	1	460	1	0	0	0	0	0	0	0	1	13889	933	33	2		2	SACS	13	23929020	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		23929020	91240858	306	89466											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465587	24465587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcctggtcctcagagctCacgtaagcatctctggtgtg	7	10	13	11	1	3	1	2	0	1	1	5	2	4	1	2	3	2	3	2	3	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:24465587C>T	ENST00000382137.3	-	3	911	c.843G>A	c.(841-843)gtG>gtA	p.V281V	C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B_ENST00000382140.2_Silent_p.V281V|C1QTNF9B_ENST00000556521.1_5'UTR	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	281	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCTCAGAGCTCACGTAAGCAT	0.498													11	59					0	0	0	0	T	24465587	C	T	24465587	2	4	460	1	0	0	0	0	0	0	0	1	1990	813	29	2		2	C1QTNF9B	13	24465587	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	536567	24465587	90704291	307	89467											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465865	24465865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaccgattttccctttctCtcctcgatctcctttccagc	4	16	3	18	2	3	0	1	0	2	0	9	2	6	0	5	0	1	0	5	0	0	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:24465865C>G	ENST00000382137.3	-	3	633	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.E189Q|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	189	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTCCCTTTCTCTCCTCGATCT	0.547													5	48					0	0	0	0	G	24465865	C	G	24465865	3	3	460	1	0	0	0	0	1	0	0	0	1990	922	32	2	439	2	C1QTNF9B	13	24465865	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	278	24465865	90704013	308	89468											
KLHL1	57626	broad.mit.edu	37	chr13	70281924	70281924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagtgtctgttttgggatCatatctaaaattcaatgaca	13	14	7	7	0	4	1	2	1	2	0	4	2	4	2	1	1	0	1	1	1	5	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:70281924C>T	ENST00000377844.4	-	10	2779	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D481N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	674					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATCATATCTAAAA	0.368													22	36					0	0	0	0	T	70281924	C	T	70281924	3	4	460	1	0	0	0	0	1	0	0	0	8417	826	29	2	234	2	KLHL1	13	70281924	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	45816059	70281924	44887954	309	89469											
PIBF1	10464	broad.mit.edu	37	chr13	73369684	73369684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatcagctttctattcctGaatatgtatctgtaagtatc	12	16	6	7	0	3	2	1	1	2	1	5	2	4	2	1	0	1	4	1	0	7	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:73369684G>A	ENST00000326291.6	+	4	879	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	181						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTCTATTCCTGAATATGTATC	0.299													20	31					0	0	0	0	A	73369684	G	A	73369684	3	1	460	1	0	0	0	0	1	0	0	0	11951	1291	45	2	551	2	PIBF1	13	73369684	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3087760	73369684	41800194	310	89470											
PIBF1	10464	broad.mit.edu	37	chr13	73372107	73372107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaactacaagtgaaaaaGaatatcctagcagaagaatt	19	9	8	5	0	0	5	0	2	0	3	1	5	1	5	1	0	3	1	1	0	10	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:73372107G>T	ENST00000326291.6	+	5	953	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	205						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGTGAAAAAGAATATCCTAG	0.353													57	87					7.71302e-15	7.99247e-15	1	0	T	73372107	G	T	73372107	3	4	460	1	0	0	0	0	1	0	0	0	11951	933	33	2	629	2	PIBF1	13	73372107	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2423	73372107	41797771	311	89471											
STK24	8428	broad.mit.edu	37	chr13	99127078	99127078	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaccctcccctcaccttCgagtcataggccgactgttt	6	11	6	18	2	3	0	3	0	0	0	5	2	4	0	6	1	0	1	6	1	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:99127078C>T	ENST00000397517.2	-	5	670	c.594G>A	c.(592-594)tcG>tcA	p.S198S	STK24_ENST00000539966.1_Silent_p.S179S|STK24_ENST00000376547.3_Silent_p.S210S	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	210	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCCTCACCTTCGAGTCATAGG	0.587													63	128					0	0	0	0	T	99127078	C	T	99127078	2	4	460	1	0	0	0	0	0	0	0	1	15383	871	31	1		1	STK24	13	99127078	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	25754971	99127078	16042800	312	89472											
TEP1	7011	broad.mit.edu	37	chr14	20836610	20836610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcttcattcccaattcaGaaagtacacattgccctgca	13	11	4	13	0	3	1	2	0	1	1	4	1	4	1	2	0	3	2	2	0	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:20836610G>T	ENST00000262715.5	-	55	7910	c.7870C>A	c.(7870-7872)Ctg>Atg	p.L2624M	TEP1_ENST00000556935.1_Missense_Mutation_p.L2516M	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2624					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.L2624M(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCCAATTCAGAAAGTACACA	0.493													30	68					3.99451e-17	4.17707e-17	1	0	T	20836610	G	T	20836610	3	4	460	1	0	0	0	0	1	0	0	0	15853	933	33	2	17	2	TEP1	14	20836610	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		20836610	86512930	313	89473											
IPO4	79711	broad.mit.edu	37	chr14	24649654	24649654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagcctgcagtctaggaGaggcccagtacagcctggag	9	6	14	12	0	1	1	0	0	1	1	1	3	1	2	3	3	5	3	3	3	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:24649654G>A	ENST00000354464.6	-	30	3416	c.3240C>T	c.(3238-3240)ctC>ctT	p.L1080L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	1080					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGTCTAGGAGAGGCCCAGTA	0.567													15	22					0	0	0	0	A	24649654	G	A	24649654	2	1	460	1	0	0	0	0	0	0	0	1	7848	929	33	2		2	IPO4	14	24649654	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3813044	24649654	82699886	314	89474											
FANCM	57697	broad.mit.edu	37	chr14	45633749	45633749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatagttattatcctttCtgaaggacgagaggaacgtg	12	11	12	6	2	1	2	0	1	1	1	2	6	2	5	1	3	1	1	1	3	5	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:45633749C>T	ENST00000267430.5	+	10	1854	c.1769C>T	c.(1768-1770)tCt>tTt	p.S590F	FANCM_ENST00000556036.1_Missense_Mutation_p.S590F|FANCM_ENST00000542564.2_Missense_Mutation_p.S564F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	590	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			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						ATTATCCTTTCTGAAGGACGA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	20					0	0	0	0	T	45633749	C	T	45633749	3	4	460	1	0	0	0	0	1	0	0	0	5716	913	32	2	1807	2	FANCM	14	45633749	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	20984095	45633749	61715791	315	89475											
SYNE2	23224	broad.mit.edu	37	chr14	64656897	64656897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagagcagctgagatcgatGacaagctcaacaaaattaac	18	6	8	9	1	1	3	1	2	0	2	2	5	1	3	0	0	5	3	0	0	6	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:64656897G>A	ENST00000357395.3	+	100	18279	c.7135G>A	c.(7135-7137)Gac>Aac	p.D2379N	SYNE2_ENST00000554584.1_Missense_Mutation_p.D5857N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D5994N|SYNE2_ENST00000344113.4_Missense_Mutation_p.D5994N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.D2628N|SYNE2_ENST00000394768.2_Missense_Mutation_p.D2379N			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5994					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAGATCGATGACAAGCTCAA	0.388													42	43					0	0	0	0	A	64656897	G	A	64656897	3	1	460	1	0	0	0	0	1	0	0	0	15537	1290	45	2	18370	2	SYNE2	14	64656897	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	19023148	64656897	42692643	316	89476											
PCNX	22990	broad.mit.edu	37	chr14	71478220	71478220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattttagtgacacagattCtcatgtatccagttctacct	10	17	5	9	0	2	2	1	1	2	1	4	2	3	2	2	0	1	2	2	0	4	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:71478220C>G	ENST00000304743.2	+	10	3178	c.2732C>G	c.(2731-2733)tCt>tGt	p.S911C	PCNX_ENST00000238570.5_Missense_Mutation_p.S911C|PCNX_ENST00000439984.3_Missense_Mutation_p.S805C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	911						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACACAGATTCTCATGTATCC	0.289													5	37					0	0	0	0	G	71478220	C	G	71478220	3	3	460	1	0	0	0	0	1	0	0	0	11662	913	32	2	2770	2	PCNX	14	71478220	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6821323	71478220	35871320	317	89477											
SERPINA9	327657	broad.mit.edu	37	chr14	94935850	94935850	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggaagccctggtggaTggcagactctggtgtgtgtg	5	11	18	7	0	1	1	0	0	1	1	1	3	1	3	1	5	2	2	1	5	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:94935850T>G	ENST00000337425.5	-	2	456	c.382A>C	c.(382-384)Atc>Ctc	p.I128L	SERPINA9_ENST00000448305.2_Missense_Mutation_p.I30L|SERPINA9_ENST00000546329.1_Missense_Mutation_p.I92L|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.I110L|SERPINA9_ENST00000298845.7_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	110					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			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)		CCCTGGTGGATGGCAGACTCT	0.577													71	88					0	0	0	0	G	94935850	T	G	94935850	3	3	460	1	0	0	0	0	1	0	0	0	14182	1464	51	5	941	5	SERPINA9	14	94935850	Missense_Mutation	SNP	T	TCGA-P3-A5QF-01A-11D-A28R-08	23457630	94935850	12413690	318	89478											
BCL11B	64919	broad.mit.edu	37	chr14	99641460	99641460	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggaccccgggcaccccAccaccgccgttctcgcggtt	4	5	11	21	6	1	0	0	0	1	0	2	1	1	1	8	3	0	3	8	3	0	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:99641460A>C	ENST00000345514.2	-	3	1766	c.1500T>G	c.(1498-1500)ggT>ggG	p.G500G	BCL11B_ENST00000357195.3_Silent_p.G571G|BCL11B_ENST00000443726.2_Silent_p.G377G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	571						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cgggcACCCCACCACCGCCGT	0.706			T	TLX3	T-ALL								6	4					0	0	0	0	C	99641460	A	C	99641460	2	2	460	1	0	0	0	0	0	0	0	1	1368	146	6	5		5	BCL11B	14	99641460	Silent	SNP	A	TCGA-P3-A5QF-01A-11D-A28R-08	4705610	99641460	7708080	319	89479											
CINP	51550	broad.mit.edu	37	chr14	102816325	102816325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccccataatggtagttttCtagttcacaaattcccttgg	9	15	6	11	0	2	0	1	0	1	0	4	0	4	0	3	2	0	3	3	2	4	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:102816325C>G	ENST00000216756.6	-	4	407	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	CINP_ENST00000536961.2_Missense_Mutation_p.E138Q|CINP_ENST00000541568.2_Intron	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	123					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						TGGTAGTTTTCTAGTTCACAA	0.388													17	40					0	0	0	0	G	102816325	C	G	102816325	3	3	460	1	0	0	0	0	1	0	0	0	3460	922	32	2	279	2	CINP	14	102816325	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3174865	102816325	4533215	320	89480											
INF2	64423	broad.mit.edu	37	chr14	105173357	105173357	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgggaggccctggagagcctCgtgaaccgggccgtgctcct	5	7	16	13	3	0	2	0	1	0	1	2	4	1	3	5	4	3	1	5	4	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:105173357C>G	ENST00000392634.4	+	7	1066	c.954C>G	c.(952-954)ctC>ctG	p.L318L	INF2_ENST00000330634.7_Silent_p.L318L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	318	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGAGAGCCTCGTGAACCGGG	0.711													7	9					0	0	0	0	G	105173357	C	G	105173357	2	3	460	1	0	0	0	0	0	0	0	1	7787	871	31	3		3	INF2	14	105173357	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2357032	105173357	2176183	321	89481											
AHNAK2	113146	broad.mit.edu	37	chr14	105419452	105419452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttggggcctttcaggTccagcttggggcccttgagg	3	10	15	13	1	1	1	1	1	0	0	2	1	2	1	5	6	1	1	5	6	0	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:105419452T>C	ENST00000333244.5	-	7	2455	c.2336A>G	c.(2335-2337)gAc>gGc	p.D779G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	779						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTTTCAGGTCCAGCTTGGG	0.632													116	230					0	0	0	0	C	105419452	T	C	105419452	3	2	460	1	0	0	0	0	1	0	0	0	415	1667	58	5	15055	5	AHNAK2	14	105419452	Missense_Mutation	SNP	T	TCGA-P3-A5QF-01A-11D-A28R-08	246095	105419452	1930088	322	89482											
TJP1	7082	broad.mit.edu	37	chr15	30092859	30092859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacttaccctgtgaagcGtcactgtatgttgttcccat	10	13	7	11	1	1	1	1	1	0	0	2	1	2	1	2	0	3	3	2	0	4	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:30092859G>A	ENST00000346128.6	-	2	548	c.74C>T	c.(73-75)aCg>aTg	p.T25M	TJP1_ENST00000495972.2_Missense_Mutation_p.T25M|TJP1_ENST00000356107.6_Missense_Mutation_p.T25M|TJP1_ENST00000545208.2_Missense_Mutation_p.T25M|TJP1_ENST00000400011.2_Missense_Mutation_p.T29M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	25	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCTGTGAAGCGTCACTGTATG	0.383													26	48					0	0	0	0	A	30092859	G	A	30092859	3	1	460	1	0	0	0	0	1	0	0	0	16023	1145	40	1	5280	1	TJP1	15	30092859	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		30092859	72438533	323	89483											
CGNL1	84952	broad.mit.edu	37	chr15	57730201	57730201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctggaacagtgaaccatgGagctgtatttcggtgaatat	12	11	12	6	1	0	2	0	2	0	0	1	4	0	4	1	3	4	3	1	3	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:57730201G>A	ENST00000281282.5	+	2	82	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	2	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GTGAACCATGGAGCTGTATTT	0.423													156	287					0	0	0	0	A	57730201	G	A	57730201	3	1	460	1	0	0	0	0	1	0	0	0	3333	1175	41	2	6	2	CGNL1	15	57730201	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	27637342	57730201	44801191	324	89484											
DENND4A	10260	broad.mit.edu	37	chr15	65983235	65983235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcttttgctatcatcttCatcctcctcctcttcttctt	5	20	2	14	0	6	0	2	0	4	0	9	0	9	0	3	0	2	2	3	0	2	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:65983235C>T	ENST00000443035.3	-	23	3909	c.3694G>A	c.(3694-3696)Gaa>Aaa	p.E1232K	DENND4A_ENST00000431932.2_Missense_Mutation_p.E1189K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTATCATCTTCATCCTCCTCC	0.403													9	10					0	0	0	0	T	65983235	C	T	65983235	3	4	460	1	0	0	0	0	1	0	0	0	4470	835	29	2	2070	2	DENND4A	15	65983235	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	8253034	65983235	36548157	325	89485											
MYO9A	4649	broad.mit.edu	37	chr15	72338475	72338475	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatcaaagtctttctgttGaggctgtggaagaaaacccc	12	11	9	9	0	4	2	2	1	2	1	4	3	4	3	2	2	1	2	2	2	4	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:72338475G>C	ENST00000356056.5	-	2	902	c.430C>G	c.(430-432)Caa>Gaa	p.Q144E	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q144E|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q144E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q144E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	144					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTTTCTGTTGAGGCTGTGGA	0.393													26	84					0	0	0	0	C	72338475	G	C	72338475	3	2	460	1	0	0	0	0	1	0	0	0	10154	1299	45	2	7380	2	MYO9A	15	72338475	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6355240	72338475	30192917	326	89486											
RASGRF1	5923	broad.mit.edu	37	chr15	79292205	79292205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcggttattgtccagttCacgacaggaggtcatgacga	10	10	12	9	3	2	1	2	1	0	0	3	4	3	2	1	3	1	2	1	3	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:79292205C>T	ENST00000419573.3	-	18	2948	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E108K|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E876K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	894					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGTCCAGTTCACGACAGGAG	0.577													52	110					0	0	0	0	T	79292205	C	T	79292205	3	4	460	1	0	0	0	0	1	0	0	0	13154	835	29	2	1191	2	RASGRF1	15	79292205	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6953730	79292205	23239187	327	89487											
ZNF592	9640	broad.mit.edu	37	chr15	85345272	85345272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagcaccaggtggacagctCcacagcccaatgtctcctct	9	8	8	16	0	3	0	1	0	2	0	5	1	4	1	4	2	3	2	4	2	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:85345272C>T	ENST00000299927.3	+	8	3474	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	ZNF592_ENST00000560079.2_Missense_Mutation_p.S1151F			Q92610	ZN592_HUMAN	zinc finger protein 592	1151					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGGACAGCTCCACAGCCCAA	0.552													21	42					0	0	0	0	T	85345272	C	T	85345272	3	4	460	1	0	0	0	0	1	0	0	0	18117	855	30	2	3482	2	ZNF592	15	85345272	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6053067	85345272	17186120	328	89488											
POLG	5428	broad.mit.edu	37	chr15	89873462	89873462	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccggcgacagctggctggtCcaagagtaacgctcttccac	8	7	12	14	3	1	1	0	0	1	1	3	2	3	1	3	3	2	4	3	3	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:89873462C>T	ENST00000268124.5	-	3	1038	c.705G>A	c.(703-705)tgG>tgA	p.W235*	POLG_ENST00000442287.2_Nonsense_Mutation_p.W235*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	235					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			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)			GCTGGCTGGTCCAAGAGTAAC	0.617								DNA polymerases (catalytic subunits)					20	51					0	0	0	0	T	89873462	C	T	89873462	4	4	460	1	0	0	0	0	0	1	0	0	12272	856	30	2	3098	2	POLG	15	89873462	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4528190	89873462	12657930	329	89489											
NPRL3	8131	broad.mit.edu	37	chr16	142715	142715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagaactgctcggccagcGgggagtacctgcaggcaggt	8	5	18	10	2	0	1	0	0	0	1	1	3	0	2	2	6	5	4	2	6	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:142715G>A	ENST00000399953.3	-	10	1442	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.P168L	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	347							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CTCGGCCAGCGGGGAGTACCT	0.587													20	19					0	0	0	0	A	142715	G	A	142715	3	1	460	1	0	0	0	0	1	0	0	0	10669	1116	39	1	684	1	NPRL3	16	142715	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		142715	90212038	330	89490											
PKD1	5310	broad.mit.edu	37	chr16	2160360	2160360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatattgaaggtgcccacgGagcggaaggtgtaagagatg	12	8	16	5	2	0	3	0	2	0	1	0	6	0	5	1	4	2	1	1	4	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2160360G>A	ENST00000262304.4	-	15	5016	c.4808C>T	c.(4807-4809)tCc>tTc	p.S1603F	PKD1_ENST00000423118.1_Missense_Mutation_p.S1603F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1603	PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTGCCCACGGAGCGGAAGGT	0.612													10	113					0	0	0	0	A	2160360	G	A	2160360	3	1	460	1	0	0	0	0	1	0	0	0	12035	1174	41	2	8231	2	PKD1	16	2160360	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2017645	2160360	88194393	331	89491											
ABCA3	21	broad.mit.edu	37	chr16	2338038	2338038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccttaccgagcacctcgCggggctcctgtccctcagcc	4	7	10	20	3	1	0	1	0	0	0	4	1	3	0	7	2	3	2	7	2	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2338038C>T	ENST00000301732.5	-	21	3693	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R940H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	998					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GAGCACCTCGCGGGGCTCCTG	0.667													19	27					0	0	0	0	T	2338038	C	T	2338038	3	4	460	1	0	0	0	0	1	0	0	0	33	768	27	1	2173	1	ABCA3	16	2338038	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	177678	2338038	88016715	332	89492											
SRRM2	23524	broad.mit.edu	37	chr16	2814238	2814238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacgtcaagccaagatgaaGagttaatggaggtggtagag	14	8	14	5	1	1	4	1	1	0	3	1	5	1	5	1	3	2	2	1	3	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814238G>A	ENST00000301740.8	+	11	4258	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1237	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAAGATGAAGAGTTAATGGA	0.443													21	258					0	0	0	0	A	2814238	G	A	2814238	3	1	460	1	0	0	0	0	1	0	0	0	15259	943	33	2	3747	2	SRRM2	16	2814238	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	476200	2814238	87540515	333	89493			4	147		4	4	635	G		1.157124e-07
SRRM2	23524	broad.mit.edu	37	chr16	2814346	2814346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaactttgaatcatctcctGaagtagaagaaaggcctgct	13	11	9	8	0	2	4	1	2	1	2	3	4	2	4	2	1	2	3	2	1	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814346G>A	ENST00000301740.8	+	11	4366	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1273	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCATCTCCTGAAGTAGAAGA	0.463													11	233					0	0	0	0	A	2814346	G	A	2814346	3	1	460	1	0	0	0	0	1	0	0	0	15259	1291	45	2	3855	2	SRRM2	16	2814346	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	108	2814346	87540407	334	89494			4	147		4	4	635	G		1.157124e-07
SRRM2	23524	broad.mit.edu	37	chr16	2814810	2814810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcatcttctcctgaaatGaaagatggtttacccagaac	12	12	7	10	0	3	4	0	2	3	2	4	4	3	4	2	1	3	2	2	1	4	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814810G>A	ENST00000301740.8	+	11	4830	c.4281G>A	c.(4279-4281)atG>atA	p.M1427I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1427	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCCTGAAATGAAAGATGGTT	0.502													16	222					0	0	0	0	A	2814810	G	A	2814810	3	1	460	1	0	0	0	0	1	0	0	0	15259	1290	45	2	4319	2	SRRM2	16	2814810	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	464	2814810	87539943	335	89495			4	147		4	4	635	G		1.157124e-07
SRRM2	23524	broad.mit.edu	37	chr16	2814872	2814872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtcttctccaggacttaGagatgggtctgggactccct	6	12	13	10	0	3	1	0	0	3	1	5	4	4	3	2	4	0	0	2	4	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814872G>C	ENST00000301740.8	+	11	4892	c.4343G>C	c.(4342-4344)aGa>aCa	p.R1448T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1448	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGGACTTAGAGATGGGTCT	0.493													8	184					0	0	0	0	C	2814872	G	C	2814872	3	2	460	1	0	0	0	0	1	0	0	0	15259	942	33	2	4381	2	SRRM2	16	2814872	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	62	2814872	87539881	336	89496			4	147		4	4	635	G		1.157124e-07
TRAP1	10131	broad.mit.edu	37	chr16	3727505	3727505	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattcgtcactcacccatctGaaagccactggtaacccagg	11	8	7	15	1	3	1	2	1	1	0	4	1	3	1	3	2	2	1	3	2	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:3727505G>C	ENST00000575671.1	-	1	800	c.71C>G	c.(70-72)tCa>tGa	p.S24*	TRAP1_ENST00000538171.1_Nonsense_Mutation_p.S180*|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Nonsense_Mutation_p.S233*			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	233					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCACCCATCTGAAAGCCACTG	0.552													4	126					0	0	0	0	C	3727505	G	C	3727505	4	2	460	1	0	0	0	0	0	1	0	0	16550	1294	45	2	1468	2	TRAP1	16	3727505	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	912633	3727505	86627248	337	89497											
CREBBP	1387	broad.mit.edu	37	chr16	3820792	3820792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacacaggagttgatggctGagtgggagctgctggctggg	7	8	19	7	1	0	2	0	2	0	0	0	5	0	4	0	5	2	5	0	5	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:3820792G>A	ENST00000262367.5	-	14	3468	c.2659C>T	c.(2659-2661)Cag>Tag	p.Q887*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q849*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	887					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q887*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTGATGGCTGAGTGGGAGCT	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						6	115					0	0	0	0	A	3820792	G	A	3820792	4	1	460	1	0	0	0	0	0	1	0	0	3891	1299	45	2	4741	2	CREBBP	16	3820792	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	93287	3820792	86533961	338	89498											
SNX29	92017	broad.mit.edu	37	chr16	12121228	12121228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctgcagcatggcttgaaGaggagtcgaggattggcact	9	9	15	8	1	0	2	0	1	0	1	2	5	1	4	1	4	2	4	1	4	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:12121228G>A	ENST00000566228.1	+	4	243	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATGGCTTGAAGAGGAGTCGAG	0.562													90	151					0	0	0	0	A	12121228	G	A	12121228	2	1	460	1	0	0	0	0	0	0	0	1	14986	933	33	2		2	SNX29	16	12121228	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	8300436	12121228	78233525	339	89499											
TMC5	79838	broad.mit.edu	37	chr16	19451960	19451961	+	Frame_Shift_Del	DEL	CT	CT	-																															agaatcaatccatacgcagaCtctctgggaaagcctgatta																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:19451960_19451961delCT	ENST00000396229.2	+	3	1349_1350	c.600_601delCT	c.(598-603)gactfs	p.DS200fs	TMC5_ENST00000381414.4_Frame_Shift_Del_p.DS200fs|TMC5_ENST00000541464.1_Frame_Shift_Del_p.DS200fs|TMC5_ENST00000542583.2_Frame_Shift_Del_p.DS200fs	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	200						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATACGCAGACTCTCTGGGAAA	0.465													60	130	---	---	---	---					-	19451961	CT	-	19451960	7	5	460	1	0	1	0	1	0	0	0	0	16082	564	20	0	602	0	TMC5	16	19451960	Frame_Shift_Del	DEL	CT	TCGA-P3-A5QF-01A-11D-A28R-08	7330732	19451960	70902793	340	89500											
USP31	57478	broad.mit.edu	37	chr16	23083524	23083524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacttgtggagcctgcaGagaagaaaacaggcatagag	17	5	13	6	0	0	4	0	0	0	4	0	6	0	5	1	2	4	2	1	2	6	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:23083524G>A	ENST00000567975.1	-	1	345	c.209C>T	c.(208-210)tCt>tTt	p.S70F	USP31_ENST00000219689.7_Intron			Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAGCCTGCAGAGAAGAAAAC	0.622													18	25					0	0	0	0	A	23083524	G	A	23083524	3	1	460	1	0	0	0	0	1	0	0	0	17158	957	33	2		2	USP31	16	23083524	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3631564	23083524	67271229	341	89501											
IL21R	50615	broad.mit.edu	37	chr16	27448847	27448847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgaaggacgaggccacctCctgcagcctccacaggtcgg	8	5	13	15	2	0	1	0	1	0	0	3	3	2	2	5	4	2	2	5	4	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:27448847C>T	ENST00000337929.3	+	4	664	c.191C>T	c.(190-192)tCc>tTc	p.S64F	IL21R_ENST00000564089.1_Missense_Mutation_p.S64F|IL21R_ENST00000395755.1_Missense_Mutation_p.S64F|IL21R_ENST00000395754.4_Missense_Mutation_p.S64F	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	64					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAGGCCACCTCCTGCAGCCTC	0.587			T	BCL6	NHL								42	49					0	0	0	0	T	27448847	C	T	27448847	3	4	460	1	0	0	0	0	1	0	0	0	7724	855	30	2	201	2	IL21R	16	27448847	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4365323	27448847	62905906	342	89502											
KIF22	3835	broad.mit.edu	37	chr16	29808239	29808239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcgctgtcggctaagcaaGattggagctactcgtcgtcc	7	10	13	11	4	0	1	0	0	0	1	5	2	1	2	1	3	3	4	1	3	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29808239G>C	ENST00000160827.4	+	2	136	c.96G>C	c.(94-96)aaG>aaC	p.K32N	KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000400751.5_5'UTR|KIF22_ENST00000569382.2_5'UTR|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	32					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGCTAAGCAAGATTGGAGCTA	0.567													9	170					0	0	0	0	C	29808239	G	C	29808239	3	2	460	1	0	0	0	0	1	0	0	0	8341	933	33	2	102	2	KIF22	16	29808239	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2359392	29808239	60546514	343	89503			5	148	26993367	4	4	3067	G		1.280472e-05
KIF22	3835	broad.mit.edu	37	chr16	29809785	29809785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcacttgctggaagggcaGaatgccagtgtgcttgccta	9	9	14	9	0	0	1	0	0	0	1	0	2	0	2	2	3	4	4	2	3	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29809785G>A	ENST00000561482.1	+	3	790	c.153G>A	c.(151-153)caG>caA	p.Q51Q	KIF22_ENST00000400751.5_Silent_p.Q51Q|KIF22_ENST00000569382.2_Silent_p.Q51Q|KIF22_ENST00000160827.4_Silent_p.Q119Q|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	119	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TGGAAGGGCAGAATGCCAGTG	0.542													10	136					0	0	0	0	A	29809785	G	A	29809785	2	1	460	1	0	0	0	0	0	0	0	1	8341	933	33	2		2	KIF22	16	29809785	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1546	29809785	60544968	344	89504			5	148	26993367	4	4	3067	G		1.280472e-05
KIF22	3835	broad.mit.edu	37	chr16	29810702	29810702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaagggccttcggctaaaaGagagtggagccatcaacacc	14	5	11	11	1	1	1	1	0	0	1	2	3	1	2	3	3	2	1	3	3	4	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29810702G>C	ENST00000561482.1	+	6	1310	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	KIF22_ENST00000400751.5_Missense_Mutation_p.E225Q|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.E225Q|KIF22_ENST00000160827.4_Missense_Mutation_p.E293Q|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	293	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCGGCTAAAAGAGAGTGGAGC	0.562													11	81					0	0	0	0	C	29810702	G	C	29810702	3	2	460	1	0	0	0	0	1	0	0	0	8341	943	33	2	899	2	KIF22	16	29810702	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	917	29810702	60544051	345	89505			5	148	26993367	4	4	3067	G		1.280472e-05
KIF22	3835	broad.mit.edu	37	chr16	29811305	29811305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagagagcccgaggccctGaggaagaggagatcgggagc	13	2	17	9	2	0	4	0	1	0	3	1	9	0	6	2	4	2	0	2	4	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29811305G>A	ENST00000561482.1	+	8	1649	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	KIF22_ENST00000400751.5_Missense_Mutation_p.E338K|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.E338K|KIF22_ENST00000160827.4_Missense_Mutation_p.E406K|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	406					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCGAGGCCCTGAGGAAGAGGA	0.582													7	90					0	0	0	0	A	29811305	G	A	29811305	3	1	460	1	0	0	0	0	1	0	0	0	8341	1291	45	2	1246	2	KIF22	16	29811305	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	603	29811305	60543448	346	89506			5	148	26993367	4	4	3067	G		1.280472e-05
ZNF668	79759	broad.mit.edu	37	chr16	31073425	31073425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggaagggcttctcccccGagtgcgtgcgctcgtggctc	5	8	14	14	4	1	0	0	0	1	0	4	2	1	1	2	3	2	3	2	3	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:31073425G>A	ENST00000538906.1	-	3	1608	c.824C>T	c.(823-825)tCg>tTg	p.S275L	ZNF668_ENST00000535577.1_Missense_Mutation_p.S275L|ZNF668_ENST00000394983.2_Missense_Mutation_p.S275L|ZNF668_ENST00000417110.2_Missense_Mutation_p.E205K|ZNF668_ENST00000426488.2_Missense_Mutation_p.S298L|ZNF668_ENST00000300849.4_Missense_Mutation_p.S275L|ZNF668_ENST00000539836.3_Missense_Mutation_p.S298L	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CTTCTCCCCCGAGTGCGTGCG	0.687													26	69					0	0	0	0	A	31073425	G	A	31073425	3	1	460	1	0	0	0	0	1	0	0	0	18170	1059	37	1	1039	1	ZNF668	16	31073425	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1262120	31073425	59281328	347	89507											
CHD9	80205	broad.mit.edu	37	chr16	53262993	53262993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaattgagacaagcacaaaGagcacatttttttgcagacg	16	9	8	8	1	0	3	0	1	0	3	0	4	0	3	0	0	3	3	0	0	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:53262993G>C	ENST00000566029.1	+	8	2476	c.2267G>C	c.(2266-2268)aGa>aCa	p.R756T	CHD9_ENST00000564845.1_Missense_Mutation_p.R756T|CHD9_ENST00000398510.3_Missense_Mutation_p.R756T|CHD9_ENST00000447540.1_Missense_Mutation_p.R756T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	756	Chromo 1.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAGCACAAAGAGCACATTTT	0.333													5	9					0	0	0	0	C	53262993	G	C	53262993	3	2	460	1	0	0	0	0	1	0	0	0	3361	942	33	2	2293	2	CHD9	16	53262993	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	22189568	53262993	37091760	348	89508											
RBL2	5934	broad.mit.edu	37	chr16	53488623	53488623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctgttgggaatttagatGagcggatatttcttggagag	10	15	13	3	1	2	3	0	1	2	2	2	6	2	5	0	3	1	1	0	3	4	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:53488623G>A	ENST00000262133.6	+	8	1185	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	RBL2_ENST00000544545.1_Missense_Mutation_p.E134K|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	350					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAATTTAGATGAGCGGATATT	0.423													19	51					0	0	0	0	A	53488623	G	A	53488623	3	1	460	1	0	0	0	0	1	0	0	0	13192	1291	45	2	1078	2	RBL2	16	53488623	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	225630	53488623	36866130	349	89509											
IRX5	10265	broad.mit.edu	37	chr16	54965245	54965245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcttcgggctccgcgttCtcgccctacgctggctcgac	2	12	10	17	6	3	0	0	0	3	0	7	1	4	0	2	2	1	4	2	2	1	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:54965245C>T	ENST00000394636.4	+	1	472	c.135C>T	c.(133-135)ttC>ttT	p.F45F	IRX5_ENST00000320990.5_Silent_p.F45F|IRX5_ENST00000560154.1_Silent_p.F45F			P78411	IRX5_HUMAN	iroquois homeobox 5	45					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCTCCGCGTTCTCGCCCTACG	0.736													13	42					0	0	0	0	T	54965245	C	T	54965245	2	4	460	1	0	0	0	0	0	0	0	1	7900	912	32	2		2	IRX5	16	54965245	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1476622	54965245	35389508	350	89510											
POLR2C	5432	broad.mit.edu	37	chr16	57504952	57504952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgtcctgtcagccctctCaggattgaagaagaaactga	12	10	9	10	0	2	4	2	2	1	2	4	5	3	5	2	1	2	0	2	1	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:57504952C>T	ENST00000219252.5	+	9	1087	c.749C>T	c.(748-750)tCa>tTa	p.S250L		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	250					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II 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|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCAGCCCTCTCAGGATTGAAG	0.478													50	58					0	0	0	0	T	57504952	C	T	57504952	3	4	460	1	0	0	0	0	1	0	0	0	12288	838	29	2	783	2	POLR2C	16	57504952	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2539707	57504952	32849801	351	89511											
SMPD3	55512	broad.mit.edu	37	chr16	68405623	68405623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattgcggattctctgcccGatctccttggcccgcgcttg	3	12	10	16	4	2	0	0	0	2	0	4	2	2	1	4	2	2	1	4	2	0	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:68405623G>A	ENST00000219334.5	-	3	1065	c.462C>T	c.(460-462)atC>atT	p.I154I	SMPD3_ENST00000568373.1_Silent_p.I154I|SMPD3_ENST00000563226.1_Silent_p.I154I	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	154					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TTCTCTGCCCGATCTCCTTGG	0.592													11	30					0	0	0	0	A	68405623	G	A	68405623	2	1	460	1	0	0	0	0	0	0	0	1	14894	1048	37	1		1	SMPD3	16	68405623	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	10900671	68405623	21949130	352	89512											
ZNF23	7571	broad.mit.edu	37	chr16	71483728	71483728	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctctttgaagttcaaatGatacattctcttttccttca	10	18	4	9	0	4	2	2	2	2	0	7	2	5	2	1	0	1	1	1	0	3	7			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:71483728G>C	ENST00000393539.2	-	6	1013	c.200C>G	c.(199-201)tCa>tGa	p.S67*	RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000564528.1_Nonsense_Mutation_p.S9*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.S67*|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.S67*|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.S9*	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGTTCAAATGATACATTCTC	0.338													39	57					0	0	0	0	C	71483728	G	C	71483728	4	2	460	1	0	0	0	0	0	1	0	0	17878	1294	45	2	1735	2	ZNF23	16	71483728	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3078105	71483728	18871025	353	89513											
WDR59	79726	broad.mit.edu	37	chr16	74921637	74921637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatactggagcaggaaccaGaagaggtaaagctaggctac	16	5	12	8	0	0	2	0	0	0	2	0	4	0	4	1	4	5	4	1	4	7	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:74921637G>A	ENST00000262144.6	-	23	2493	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	788										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGGAACCAGAAGAGGTAAA	0.478													16	39					0	0	0	0	A	74921637	G	A	74921637	3	1	460	1	0	0	0	0	1	0	0	0	17404	942	33	2	577	2	WDR59	16	74921637	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3437909	74921637	15433116	354	89514											
WSCD1	23302	broad.mit.edu	37	chr17	5984266	5984266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccccctgacccggccccgGcccggcccccgctggctccg	2	3	12	24	5	0	1	0	1	0	0	1	1	1	1	9	4	1	2	9	4	0	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:5984266G>A	ENST00000574946.1	+	2	678	c.288G>A	c.(286-288)cgG>cgA	p.R96R	WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Silent_p.R96R|WSCD1_ENST00000317744.5_Silent_p.R96R|WSCD1_ENST00000574232.1_Silent_p.R96R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	96						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						cccggccccggcccggccccc	0.711													8	7					0	0	0	0	A	5984266	G	A	5984266	2	1	460	1	0	0	0	0	0	0	0	1	17502	1190	42	4		4	WSCD1	17	5984266	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		5984266	75210944	355	89515											
SLC2A4	6517	broad.mit.edu	37	chr17	7187884	7187884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagcggaagctggagcgtGagcggccactgtccctgctc	8	6	15	12	3	0	2	0	1	0	1	2	4	1	4	2	3	5	2	2	3	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:7187884G>C	ENST00000317370.8	+	7	1076	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	SLC2A4_ENST00000571308.1_Missense_Mutation_p.E270Q|SLC2A4_ENST00000424875.2_Missense_Mutation_p.E260Q	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	270					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCTGGAGCGTGAGCGGCCACT	0.637													42	100					0	0	0	0	C	7187884	G	C	7187884	3	2	460	1	0	0	0	0	1	0	0	0	14634	1291	45	2	834	2	SLC2A4	17	7187884	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1203618	7187884	74007326	356	89516											
MYH13	8735	broad.mit.edu	37	chr17	10253943	10253943	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatgttcccataatgcatCacggctcccgtcagtttgta	8	14	7	12	2	3	0	3	0	0	0	5	0	5	0	2	1	1	5	2	1	2	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:10253943C>G	ENST00000418404.3	-	11	1237	c.1074G>C	c.(1072-1074)gtG>gtC	p.V358V	MYH13_ENST00000570743.1_Silent_p.V358V|MYH13_ENST00000252172.4_Silent_p.V358V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	358	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V358V(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						CATAATGCATCACGGCTCCCG	0.512													12	127					0	0	0	0	G	10253943	C	G	10253943	2	3	460	1	0	0	0	0	0	0	0	1	10102	813	29	2		2	MYH13	17	10253943	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	3066059	10253943	70941267	357	89517											
MYO15A	51168	broad.mit.edu	37	chr17	18061115	18061115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgctgctgcccccgacttCctgcagctgccaacggagcc	5	6	10	20	3	0	0	0	0	0	0	1	2	1	1	6	1	7	4	6	1	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:18061115C>T	ENST00000205890.5	+	51	9206	c.8868C>T	c.(8866-8868)ttC>ttT	p.F2956F	MYO15A_ENST00000418233.3_Silent_p.F220F	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2956	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCCGACTTCCTGCAGCTGC	0.716													20	39					0	0	0	0	T	18061115	C	T	18061115	2	4	460	1	0	0	0	0	0	0	0	1	10133	854	30	2		2	MYO15A	17	18061115	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7807172	18061115	63134095	358	89518											
LRRC37B	114659	broad.mit.edu	37	chr17	30349810	30349810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgccaagtgcctgtgccaGagcccgacacctacaatggc	9	6	10	16	2	0	1	0	0	0	1	1	2	1	1	6	1	4	0	6	1	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:30349810G>C	ENST00000327564.7	+	1	1787	c.1726G>C	c.(1726-1728)Gag>Cag	p.E576Q	LRRC37B_ENST00000341671.7_Missense_Mutation_p.E549Q|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E561Q|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E467Q|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E549Q			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	549						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCCTGTGCCAGAGCCCGACAC	0.537													79	118					0	0	0	0	C	30349810	G	C	30349810	3	2	460	1	0	0	0	0	1	0	0	0	9058	943	33	2	1647	2	LRRC37B	17	30349810	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	12288695	30349810	50845400	359	89519											
CCL8	6355	broad.mit.edu	37	chr17	32647355	32647355	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcctatccagaggctGgagagctacacaagaatcac	16	7	8	10	0	1	3	1	0	0	3	3	4	3	3	2	2	2	2	2	2	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:32647355G>A	ENST00000394620.1	+	2	610	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	48					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCAGAGGCTGGAGAGCTACA	0.428													4	57					0	0	0	0	A	32647355	G	A	32647355	2	1	460	1	0	0	0	0	0	0	0	1	2936	1335	47	4		4	CCL8	17	32647355	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2297545	32647355	48547855	360	89520											
WIPF2	147179	broad.mit.edu	37	chr17	38416863	38416863	+	Missense_Mutation	SNP	G	G	A																															cttacaggacatttgcaaagGgaccaagctgaagaaggtga																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:38416863G>A	ENST00000323571.4	+	3	380	c.140G>A	c.(139-141)gGg>gAg	p.G47E	WIPF2_ENST00000585043.1_Missense_Mutation_p.G47E|WIPF2_ENST00000583130.1_Missense_Mutation_p.G47E|WIPF2_ENST00000536600.1_Missense_Mutation_p.G47E|WIPF2_ENST00000394103.3_Missense_Mutation_p.G47E|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	47	WH2.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						ATTTGCAAAGGGACCAAGCTG	0.517										HNSCC(43;0.11)			36	90					0	0	0	0	A	38416863	G	A	38416863	3	1	460	1	0	0	0	0	1	0	0	0	17464	1232	43	4	146	4	WIPF2	17	38416863	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5769508	38416863	42778347	361	89521	1105	2									
WIPF2	147179	broad.mit.edu	37	chr17	38416864	38416864	+	Silent	SNP	G	G	A																															ttacaggacatttgcaaaggGaccaagctgaagaaggtgac																										TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:38416864G>A	ENST00000323571.4	+	3	381	c.141G>A	c.(139-141)ggG>ggA	p.G47G	WIPF2_ENST00000585043.1_Silent_p.G47G|WIPF2_ENST00000583130.1_Silent_p.G47G|WIPF2_ENST00000536600.1_Silent_p.G47G|WIPF2_ENST00000394103.3_Silent_p.G47G|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	47	WH2.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TTTGCAAAGGGACCAAGCTGA	0.517										HNSCC(43;0.11)			35	92					0	0	0	0	A	38416864	G	A	38416864	2	1	460	1	0	0	0	0	0	0	0	1	17464	1161	41	2		2	WIPF2	17	38416864	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1	38416864	42778346	362	89522	1105	2									
KRT40	125115	broad.mit.edu	37	chr17	39137332	39137332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatccaggaccctgttgagGtcaagggtgggggcagtgtc	7	9	16	9	0	2	1	2	1	0	0	4	2	3	2	2	5	0	2	2	5	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:39137332G>C	ENST00000377755.4	-	4	793	c.759C>G	c.(757-759)gaC>gaG	p.D253E	KRT40_ENST00000398486.2_Missense_Mutation_p.D253E			Q6A162	K1C40_HUMAN	keratin 40	253	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCCTGTTGAGGTCAAGGGTGG	0.537													63	95					0	0	0	0	C	39137332	G	C	39137332	3	2	460	1	0	0	0	0	1	0	0	0	8530	1252	44	4	552	4	KRT40	17	39137332	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	720468	39137332	42057878	363	89523											
RUNDC1	146923	broad.mit.edu	37	chr17	41143387	41143387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcccggaagctctcccagtCcttcgcccttcctgttacgg	5	10	9	17	3	1	0	0	0	1	0	5	1	3	1	5	2	3	2	5	2	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41143387C>G	ENST00000361677.1	+	5	1508	c.1496C>G	c.(1495-1497)tCc>tGc	p.S499C		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	499	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTCTCCCAGTCCTTCGCCCTT	0.572													57	87					0	0	0	0	G	41143387	C	G	41143387	3	3	460	1	0	0	0	0	1	0	0	0	13827	855	30	2	1514	2	RUNDC1	17	41143387	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2006055	41143387	40051823	364	89524											
NBR1	4077	broad.mit.edu	37	chr17	41342660	41342660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaatatctgtgaagattgtGaagcagggccatatggccat	13	10	11	7	0	1	3	0	2	1	1	1	3	1	3	2	2	1	1	2	2	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41342660G>A	ENST00000422280.1	+	9	1189	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	NBR1_ENST00000590996.1_Missense_Mutation_p.E244K|NBR1_ENST00000542611.1_Missense_Mutation_p.E223K|NBR1_ENST00000389312.4_Missense_Mutation_p.E244K|NBR1_ENST00000589872.1_Missense_Mutation_p.E244K|NBR1_ENST00000341165.6_Missense_Mutation_p.E244K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	244					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGAAGATTGTGAAGCAGGGCC	0.488													13	14					0	0	0	0	A	41342660	G	A	41342660	3	1	460	1	0	0	0	0	1	0	0	0	10270	1291	45	2	760	2	NBR1	17	41342660	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	199273	41342660	39852550	365	89525											
MPP3	4356	broad.mit.edu	37	chr17	41903172	41903172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcaggactgcgatcccGttcacttctcggagctcatc	6	12	10	13	3	3	0	2	0	1	0	6	3	4	2	1	2	3	3	1	2	0	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41903172G>A	ENST00000398393.1	-	7	896	c.636C>T	c.(634-636)aaC>aaT	p.N212N	MPP3_ENST00000398389.4_Silent_p.N187N			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	187	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTGCGATCCCGTTCACTTCTC	0.607													25	47					0	0	0	0	A	41903172	G	A	41903172	2	1	460	1	0	0	0	0	0	0	0	1	9805	1136	40	1		1	MPP3	17	41903172	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	560512	41903172	39292038	366	89526											
TBX21	30009	broad.mit.edu	37	chr17	45820115	45820115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtgcagtgtggaaaggccGagggcagcatgccaggtgcg	8	5	20	8	2	0	0	0	0	0	0	0	2	0	1	2	5	4	3	2	5	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:45820115G>A	ENST00000177694.1	+	2	842	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	211					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGAAAGGCCGAGGGCAGCAT	0.667													7	6					0	0	0	0	A	45820115	G	A	45820115	3	1	460	1	0	0	0	0	1	0	0	0	15751	1059	37	1	637	1	TBX21	17	45820115	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3916943	45820115	35375095	367	89527											
MED13	9969	broad.mit.edu	37	chr17	60061627	60061627	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacactcttctggcaatttGatagggggcagatattggct	10	13	11	7	0	2	2	0	1	2	1	2	2	2	2	0	4	1	3	0	4	4	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:60061627G>C	ENST00000397786.2	-	15	2869	c.2793C>G	c.(2791-2793)atC>atG	p.I931M		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	931					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGCAATTTGATAGGGGGCA	0.398													16	122					0	0	0	0	C	60061627	G	C	60061627	3	2	460	1	0	0	0	0	1	0	0	0	9499	1280	45	2	3795	2	MED13	17	60061627	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	14241512	60061627	21133583	368	89528											
TLK2	11011	broad.mit.edu	37	chr17	60689781	60689781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgacgatgcttggcctaccGaaaggaggaccgcattgatg	10	8	13	10	4	0	1	0	1	0	0	1	6	0	3	3	3	2	2	3	3	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:60689781G>A	ENST00000582809.1	+	23	2364	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	TLK2_ENST00000542523.1_Missense_Mutation_p.R671Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R703Q|TLK2_ENST00000326270.9_Missense_Mutation_p.R725Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R671Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	725	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGCCTACCGAAAGGAGGAC	0.537													28	108					0	0	0	0	A	60689781	G	A	60689781	3	1	460	1	0	0	0	0	1	0	0	0	16038	1058	37	1	2190	1	TLK2	17	60689781	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	628154	60689781	20505429	369	89529											
DDX42	11325	broad.mit.edu	37	chr17	61892949	61892949	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtttcggaaatctcgattCaaaggagggaaaggaaaaaa	17	8	12	4	2	2	0	1	0	1	0	4	5	2	4	0	5	0	1	0	5	6	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:61892949C>T	ENST00000578681.1	+	17	2530	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	DDX42_ENST00000389924.2_Silent_p.F643F|DDX42_ENST00000583590.1_Silent_p.F643F|DDX42_ENST00000457800.2_Silent_p.F643F|DDX42_ENST00000359353.5_Silent_p.F524F	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	643					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AATCTCGATTCAAAGGAGGGA	0.483													53	123					0	0	0	0	T	61892949	C	T	61892949	2	4	460	1	0	0	0	0	0	0	0	1	4394	825	29	2		2	DDX42	17	61892949	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1203168	61892949	19302261	370	89530											
CACNG4	27092	broad.mit.edu	37	chr17	65026815	65026815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattccttaaggcgtcttccTcttctccttatgccaggatg	7	15	7	12	1	3	0	0	0	3	0	6	1	5	1	4	2	1	0	4	2	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:65026815T>C	ENST00000262138.3	+	4	681	c.679T>C	c.(679-681)Tct>Cct	p.S227P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	227					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGCGTCTTCCTCTTCTCCTTA	0.557													104	87					0	0	0	0	C	65026815	T	C	65026815	3	2	460	1	0	0	0	0	1	0	0	0	2584	1551	54	5	693	5	CACNG4	17	65026815	Missense_Mutation	SNP	T	TCGA-P3-A5QF-01A-11D-A28R-08	3133866	65026815	16168395	371	89531											
ABCA9	10350	broad.mit.edu	37	chr17	67023183	67023183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactctgtctgatttcccctCtttcaggagattccatattc	7	17	5	12	0	4	2	1	1	3	1	7	3	6	2	3	1	1	0	3	1	2	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:67023183C>G	ENST00000340001.4	-	15	2195	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	ABCA9_ENST00000453985.2_Missense_Mutation_p.E662Q|ABCA9_ENST00000370732.2_Missense_Mutation_p.E662Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	662	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATTTCCCCTCTTTCAGGAGA	0.423													35	103					0	0	0	0	G	67023183	C	G	67023183	3	3	460	1	0	0	0	0	1	0	0	0	39	922	32	2	2990	2	ABCA9	17	67023183	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1996368	67023183	14172027	372	89532											
RECQL5	9400	broad.mit.edu	37	chr17	73661146	73661146	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacctgaatcaaagcaatGagaggagagactacaatggt	16	7	10	8	0	2	3	2	2	0	2	2	6	2	4	1	2	2	1	1	2	5	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:73661146G>C	ENST00000420326.2	-	3	396	c.237C>G	c.(235-237)ctC>ctG	p.L79L	RECQL5_ENST00000423245.2_Silent_p.L52L|RECQL5_ENST00000340830.5_Silent_p.L79L|RECQL5_ENST00000317905.5_Silent_p.L79L|RECQL5_ENST00000584999.1_Silent_p.L79L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	79	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCAAAGCAATGAGAGGAGAGA	0.483								Other identified genes with known or suspected DNA repair function					246	63					0	0	0	0	C	73661146	G	C	73661146	2	2	460	1	0	0	0	0	0	0	0	1	13285	1277	45	2		2	RECQL5	17	73661146	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6637963	73661146	7534064	373	89533											
HGS	9146	broad.mit.edu	37	chr17	79662834	79662834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccacagttccacaatggcGagtctgaggagagccacgag	12	5	13	11	2	1	2	0	1	1	1	2	5	2	2	3	2	2	1	3	2	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:79662834G>A	ENST00000329138.4	+	15	1333	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	400	Interaction with SNX1 (By similarity).		E -> D (in dbSNP:rs34868130).		cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCACAATGGCGAGTCTGAGGA	0.642													6	110					0	0	0	0	A	79662834	G	A	79662834	3	1	460	1	0	0	0	0	1	0	0	0	7137	1059	37	1	1256	1	HGS	17	79662834	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	6001688	79662834	1532376	374	89534											
ZNF750	79755	broad.mit.edu	37	chr17	80789699	80789699	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctggtggaaggaaaggtGagccggctttccaggggtag	9	8	17	7	1	1	1	0	1	1	0	2	3	2	3	2	7	1	2	2	7	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:80789699G>C	ENST00000269394.3	-	2	1465	c.632C>G	c.(631-633)tCa>tGa	p.S211*	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	211						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGAAAGGTGAGCCGGCTTT	0.567													74	23					0	0	0	0	C	80789699	G	C	80789699	4	2	460	1	0	0	0	0	0	1	0	0	18226	1294	45	2	1547	2	ZNF750	17	80789699	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1126865	80789699	405511	375	89535											
MYOM1	8736	broad.mit.edu	37	chr18	3116425	3116425	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgaagtaaccagtgacCggagtccgcccggagtggac	10	5	13	13	4	0	1	0	1	0	0	2	5	2	4	5	3	1	1	5	3	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:3116425C>T	ENST00000400569.3	-	21	3540	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	MYOM1_ENST00000356443.4_Silent_p.P1069P|MYOM1_ENST00000261606.7_Silent_p.P973P			P52179	MYOM1_HUMAN	myomesin 1	1069	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACCAGTGACCGGAGTCCGCC	0.542													5	45					0	0	0	0	T	3116425	C	T	3116425	2	4	460	1	0	0	0	0	0	0	0	1	10161	639	23	1		1	MYOM1	18	3116425	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		3116425	74960823	376	89536											
AQP4	361	broad.mit.edu	37	chr18	24441126	24441126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccaattgcaacagaaaatCcaattgctaaagctattgag	16	10	7	8	0	0	2	0	1	0	1	2	2	2	2	2	0	4	3	2	0	8	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:24441126C>G	ENST00000383168.4	-	3	709	c.581G>C	c.(580-582)gGa>gCa	p.G194A	AQP4_ENST00000581374.1_Missense_Mutation_p.G172A|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.G172A	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	194					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			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)					AACAGAAAATCCAATTGCTAA	0.383													4	96					0	0	0	0	G	24441126	C	G	24441126	3	3	460	1	0	0	0	0	1	0	0	0	830	855	30	2	402	2	AQP4	18	24441126	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	21324701	24441126	53636122	377	89537											
DSC3	1825	broad.mit.edu	37	chr18	28604361	28604361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattataaattgcttctgtGaaaacagggtggttgtcatt	13	15	9	4	0	2	1	1	1	1	0	2	1	2	1	0	2	2	2	0	2	6	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:28604361G>C	ENST00000434452.1	-	6	883	c.729C>G	c.(727-729)ttC>ttG	p.F243L	DSC3_ENST00000360428.4_Missense_Mutation_p.F243L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	243	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTGCTTCTGTGAAAACAGGGT	0.373													16	43					0	0	0	0	C	28604361	G	C	28604361	3	2	460	1	0	0	0	0	1	0	0	0	4803	1281	45	2	2036	2	DSC3	18	28604361	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	4163235	28604361	49472887	378	89538											
DSC1	1823	broad.mit.edu	37	chr18	28720088	28720088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgggaagccatcttgactCtgaataactttcactggagg	10	11	11	9	0	3	2	1	2	2	0	3	4	3	4	1	3	2	1	1	3	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:28720088C>G	ENST00000257197.3	-	10	1698	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	DSC1_ENST00000257198.5_Missense_Mutation_p.Q479H|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	479	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATCTTGACTCTGAATAACTT	0.463													39	74					0	0	0	0	G	28720088	C	G	28720088	3	3	460	1	0	0	0	0	1	0	0	0	4801	912	32	2	1315	2	DSC1	18	28720088	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	115727	28720088	49357160	379	89539											
SERPINB3	6317	broad.mit.edu	37	chr18	61328439	61328439	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttggtgttggcttcactGagtgaattcatggtgaactc	9	14	11	7	0	2	3	2	3	0	0	3	3	2	3	0	3	2	2	0	3	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:61328439G>C	ENST00000283752.5	-	2	155	c.12C>G	c.(10-12)ctC>ctG	p.L4L	SERPINB3_ENST00000332821.8_Silent_p.L4L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	4					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGGCTTCACTGAGTGAATTCA	0.393													77	133					0	0	0	0	C	61328439	G	C	61328439	2	2	460	1	0	0	0	0	0	0	0	1	14189	1277	45	2		2	SERPINB3	18	61328439	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	32608351	61328439	16748809	380	89540											
ABCA7	10347	broad.mit.edu	37	chr19	1043403	1043403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctgctctggagacgcctGaagcctctgatcctcgggaa	7	8	12	14	3	2	3	0	2	2	1	4	5	3	4	4	2	2	1	4	2	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:1043403G>A	ENST00000263094.6	+	9	1092	c.861G>A	c.(859-861)ctG>ctA	p.L287L	ABCA7_ENST00000435683.2_Silent_p.L149L|ABCA7_ENST00000433129.1_Silent_p.L287L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	287					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.L287L(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)		GGAGACGCCTGAAGCCTCTGA	0.662													51	109					0	0	0	0	A	1043403	G	A	1043403	2	1	460	1	0	0	0	0	0	0	0	1	37	1277	45	2		2	ABCA7	19	1043403	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08		1043403	58085580	381	89541											
APC2	10297	broad.mit.edu	37	chr19	1465944	1465944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctctggagacccgggacagGaggcgccacgggagggccgc	7	2	19	13	4	1	1	0	0	1	1	1	5	1	4	3	6	0	1	3	6	0	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:1465944G>C	ENST00000535453.1	+	14	4357	c.2644G>C	c.(2644-2646)Gag>Cag	p.E882Q	APC2_ENST00000233607.2_Missense_Mutation_p.E882Q|APC2_ENST00000238483.4_Missense_Mutation_p.E608Q|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	882					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGGACAGGAGGCGCCACG	0.731													10	23					0	0	0	0	C	1465944	G	C	1465944	3	2	460	1	0	0	0	0	1	0	0	0	765	1175	41	2	2698	2	APC2	19	1465944	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	422541	1465944	57663039	382	89542											
AP3D1	8943	broad.mit.edu	37	chr19	2110168	2110168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagggtccccttgagcttCtgcgccatgacgatgctctg	6	10	12	13	2	2	2	0	2	2	0	3	4	3	2	3	1	3	2	3	1	0	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:2110168C>T	ENST00000355272.6	-	28	3437	c.3231G>A	c.(3229-3231)caG>caA	p.Q1077Q	AP3D1_ENST00000345016.5_Silent_p.Q1015Q|AP3D1_ENST00000350812.6_Silent_p.Q846Q|AP3D1_ENST00000356926.4_Silent_p.Q974Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1015					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTTGAGCTTCTGCGCCATGA	0.642													29	76					0	0	0	0	T	2110168	C	T	2110168	2	4	460	1	0	0	0	0	0	0	0	1	747	912	32	2		2	AP3D1	19	2110168	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	644224	2110168	57018815	383	89543											
PSPN	5623	broad.mit.edu	37	chr19	6375832	6375832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagggacaggagcagcaggGagcccagcaggaacttccct	11	3	15	12	0	0	0	0	0	0	0	1	4	1	4	2	4	5	4	2	4	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:6375832G>A	ENST00000597721.1	-	1	3237	c.29C>T	c.(28-30)tCc>tTc	p.S10F	PSPN_ENST00000245810.1_Missense_Mutation_p.S10F			O60542	PSPN_HUMAN	persephin	10					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						GAGCAGCAGGGAGCCCAGCAG	0.642													29	45					0	0	0	0	A	6375832	G	A	6375832	3	1	460	1	0	0	0	0	1	0	0	0	12797	1174	41	2	448	2	PSPN	19	6375832	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	4265664	6375832	52753151	384	89544											
PEX11G	92960	broad.mit.edu	37	chr19	7542149	7542149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggtacatgctgaggattGaggagatggtgcccatgagg	9	9	16	7	0	0	4	0	3	0	1	0	6	0	5	2	5	3	2	2	5	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:7542149G>A	ENST00000593942.1	-	7	957	c.455C>T	c.(454-456)tCa>tTa	p.S152L	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000221480.1_Missense_Mutation_p.S222L			Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	222						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						GCTGAGGATTGAGGAGATGGT	0.721													5	11					0	0	0	0	A	7542149	G	A	7542149	3	1	460	1	0	0	0	0	1	0	0	0	11811	1294	45	2	64	2	PEX11G	19	7542149	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1166317	7542149	51586834	385	89545											
MUC16	94025	broad.mit.edu	37	chr19	9065168	9065168	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttcacttggcctggtgtGagaagtgaagtcacagaagc	10	10	13	8	0	3	3	2	2	1	2	3	4	3	3	1	2	1	0	1	2	3	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:9065168G>C	ENST00000397910.4	-	3	22481	c.22278C>G	c.(22276-22278)ctC>ctG	p.L7426L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7428	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCTGGTGTGAGAAGTGAAG	0.488													6	71					0	0	0	0	C	9065168	G	C	9065168	2	2	460	1	0	0	0	0	0	0	0	1	10043	1277	45	2		2	MUC16	19	9065168	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1523019	9065168	50063815	386	89546											
ZNF562	54811	broad.mit.edu	37	chr19	9763909	9763909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtgagttcttacatgttGagtaaggtgagttgatctag	10	15	13	3	0	2	4	0	4	2	0	2	4	2	4	0	1	1	4	0	1	3	6			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:9763909G>C	ENST00000448622.1	-	6	1159	c.997C>G	c.(997-999)Caa>Gaa	p.Q333E	ZNF562_ENST00000293648.4_Missense_Mutation_p.Q261E|ZNF562_ENST00000453792.2_Missense_Mutation_p.Q264E|ZNF562_ENST00000541032.1_Missense_Mutation_p.Q296E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q332E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q333E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q217E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTACATGTTGAGTAAGGTGA	0.403													37	74					0	0	0	0	C	9763909	G	C	9763909	3	2	460	1	0	0	0	0	1	0	0	0	18088	1299	45	2	287	2	ZNF562	19	9763909	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	698741	9763909	49365074	387	89547											
LPHN1	22859	broad.mit.edu	37	chr19	14277832	14277832	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaacagtgcgtttacctttCtgctccacttctactttaag	8	16	6	11	1	2	0	0	0	2	0	3	0	3	0	2	0	5	3	2	0	4	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:14277832C>T	ENST00000340736.6	-	5	702	c.405G>A	c.(403-405)caG>caA	p.Q135Q	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Intron	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	135					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTACCTTTCTGCTCCACTT	0.393													20	43					0	0	0	0	T	14277832	C	T	14277832	2	4	460	1	0	0	0	0	0	0	0	1	8979	912	32	2		2	LPHN1	19	14277832	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	4513923	14277832	44851151	388	89548											
CYP4F12	66002	broad.mit.edu	37	chr19	15807254	15807254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcaggtctacgaccccttCcgctttgacccagagaacag	9	8	9	15	2	1	2	0	1	1	1	2	4	2	2	4	1	3	2	4	1	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:15807254C>T	ENST00000550308.1	+	12	1709	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	CYP4F12_ENST00000324632.9_Silent_p.F443F	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACGACCCCTTCCGCTTTGACC	0.557													79	141					0	0	0	0	T	15807254	C	T	15807254	2	4	460	1	0	0	0	0	0	0	0	1	4219	854	30	2		2	CYP4F12	19	15807254	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1529422	15807254	43321729	389	89549											
MYO9B	4650	broad.mit.edu	37	chr19	17316865	17316865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgtgctggagaagctcctgGaacacgtggagatgcacggc	9	7	15	10	3	0	2	0	0	0	2	2	5	1	3	1	4	4	3	1	4	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:17316865G>C	ENST00000595618.1	+	32	5313	c.5161G>C	c.(5161-5163)Gaa>Caa	p.E1721Q	MYO9B_ENST00000594824.1_Missense_Mutation_p.E1721Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1721Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1721	Rho-GAP.|Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAAGCTCCTGGAACACGTGGA	0.672													30	43					0	0	0	0	C	17316865	G	C	17316865	3	2	460	1	0	0	0	0	1	0	0	0	10155	1175	41	2	5283	2	MYO9B	19	17316865	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1509611	17316865	41812118	390	89550											
MAP4K1	11184	broad.mit.edu	37	chr19	39108020	39108020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taactcccatggtaggccacGatgttggcgtgccggcaagt	8	9	13	11	3	0	0	0	0	0	0	1	1	1	0	3	4	2	3	3	4	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39108020G>A	ENST00000591517.1	-	3	250	c.222C>T	c.(220-222)atC>atT	p.I74I	MAP4K1_ENST00000586296.1_Silent_p.I74I|MAP4K1_ENST00000589130.1_Silent_p.I70I|MAP4K1_ENST00000396857.2_Silent_p.I74I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	74	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTAGGCCACGATGTTGGCGT	0.557													29	58					0	0	0	0	A	39108020	G	A	39108020	2	1	460	1	0	0	0	0	0	0	0	1	9328	1048	37	1		1	MAP4K1	19	39108020	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	21791155	39108020	20020963	391	89551											
ECH1	1891	broad.mit.edu	37	chr19	39321782	39321782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtcagcgtctctcgaaatCttgttgaagcactctaccat	10	12	7	12	2	4	1	1	1	3	0	6	2	4	1	1	0	3	2	1	0	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39321782C>G	ENST00000221418.4	-	3	517	c.285G>C	c.(283-285)aaG>aaC	p.K95N	AC104534.3_ENST00000594769.1_Missense_Mutation_p.R265T|ECH1_ENST00000597805.1_5'UTR	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTCTCGAAATCTTGTTGAAGC	0.537													50	71					0	0	0	0	G	39321782	C	G	39321782	3	3	460	1	0	0	0	0	1	0	0	0	4928	912	32	2	733	2	ECH1	19	39321782	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	213762	39321782	19807201	392	89552											
PAPL	390928	broad.mit.edu	37	chr19	39591819	39591819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccaaggcaagctgtaCgggttggaggatcttttcta	8	11	13	9	1	2	0	0	0	2	0	3	2	3	2	2	5	2	4	2	5	4	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39591819C>T	ENST00000594229.1	+	7	855	c.821C>T	c.(820-822)aCg>aTg	p.T274M	PAPL_ENST00000331256.5_Silent_p.Y315Y			Q6ZNF0	PAPL_HUMAN		0						extracellular region	acid phosphatase activity|metal ion binding										GCAAGCTGTACGGGTTGGAGG	0.597													15	26					0	0	0	0	T	39591819	C	T	39591819	3	4	460	1	0	0	0	0	1	0	0	0	11498	547	19	1	975	1	PAPL	19	39591819	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	270037	39591819	19537164	393	89553											
CEACAM6	4680	broad.mit.edu	37	chr19	42270107	42270107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggaagtgctcctgtcctCtcagctgtggccaccgtcgg	6	9	12	14	2	1	0	1	0	1	0	5	1	3	1	4	3	2	2	4	3	2	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:42270107C>T	ENST00000199764.6	+	5	1193	c.975C>T	c.(973-975)ctC>ctT	p.L325L	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	325					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTCCTGTCCTCTCAGCTGTGG	0.517													7	91					0	0	0	0	T	42270107	C	T	42270107	2	4	460	1	0	0	0	0	0	0	0	1	3225	900	32	2		2	CEACAM6	19	42270107	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2678288	42270107	16858876	394	89554											
PSG7	5676	broad.mit.edu	37	chr19	43430805	43430805	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggttcacaggtgaaggttGagacatccttattctccctg	9	13	10	9	0	2	2	1	2	1	1	4	3	3	2	2	3	0	2	2	3	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:43430805G>C	ENST00000446844.3	-	0	862				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGTGAAGGTTGAGACATCCTT	0.488													10	405					0	0	0	0	C	43430805	G	C	43430805	1	2	460	0	1	0	0	0	0	0	0	0	12739	1294	45	2		2	PSG7	19	43430805	RNA	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1160698	43430805	15698178	395	89555											
GYS1	2997	broad.mit.edu	37	chr19	49489281	49489281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgtggcttctcctcactCtgtgccaggaactgtgggca	7	11	11	12	0	3	0	1	0	2	0	4	1	3	1	2	3	2	2	2	3	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:49489281C>G	ENST00000323798.3	-	4	700	c.504G>C	c.(502-504)caG>caC	p.Q168H	GYS1_ENST00000540532.1_Missense_Mutation_p.Q88H|GYS1_ENST00000263276.6_Missense_Mutation_p.Q104H|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.Q88H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	168					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCTCCTCACTCTGTGCCAGGA	0.587													13	40					0	0	0	0	G	49489281	C	G	49489281	3	3	460	1	0	0	0	0	1	0	0	0	6962	912	32	2	1761	2	GYS1	19	49489281	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	6058476	49489281	9639702	396	89556											
LRRC4B	94030	broad.mit.edu	37	chr19	51021537	51021537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtagccgccactgccccctCcaacaccaccactgccccca	8	5	5	23	1	0	0	0	0	0	0	1	0	1	0	9	0	4	1	9	0	2	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:51021537C>G	ENST00000599957.1	-	3	1630	c.1433G>C	c.(1432-1434)gGa>gCa	p.G478A	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G478A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	478	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		actgccccctccaacaccacc	0.746													3	9					0	0	0	0	G	51021537	C	G	51021537	3	3	460	1	0	0	0	0	1	0	0	0	9071	855	30	2	712	2	LRRC4B	19	51021537	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1532256	51021537	8107446	397	89557											
KLK2	3817	broad.mit.edu	37	chr19	51381741	51381741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagccatgtgccctgcctGaaaagcctgctgtgtacacc	8	9	10	14	0	0	2	0	2	0	0	0	2	0	2	5	0	6	2	5	0	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:51381741G>A	ENST00000325321.3	+	5	937	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	KLK2_ENST00000358049.4_3'UTR|KLK2_ENST00000391810.2_Missense_Mutation_p.E136K			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	238	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGCCCTGCCTGAAAAGCCTGC	0.557			T	ETV4	prostate								103	184					0	0	0	0	A	51381741	G	A	51381741	3	1	460	1	0	0	0	0	1	0	0	0	8456	1291	45	2	767	2	KLK2	19	51381741	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	360204	51381741	7747242	398	89558											
NLRP12	91662	broad.mit.edu	37	chr19	54313632	54313632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagtggtggtcctggaCgtctgtctcaacagcccccc	6	9	11	15	1	2	0	1	0	2	0	4	1	3	1	4	3	3	1	4	3	1	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54313632C>T	ENST00000324134.6	-	3	1449	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	NLRP12_ENST00000535162.1_Silent_p.T427T|NLRP12_ENST00000354278.3_Silent_p.T427T|NLRP12_ENST00000351894.4_Silent_p.T427T|NLRP12_ENST00000391775.3_Silent_p.T427T|NLRP12_ENST00000391773.1_Silent_p.T427T|NLRP12_ENST00000391772.1_Silent_p.T427T|NLRP12_ENST00000345770.5_Silent_p.T427T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	427	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGTCCTGGACGTCTGTCTCA	0.642													108	143					0	0	0	0	T	54313632	C	T	54313632	2	4	460	1	0	0	0	0	0	0	0	1	10544	523	19	1		1	NLRP12	19	54313632	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2931891	54313632	4815351	399	89559											
CACNG8	59283	broad.mit.edu	37	chr19	54485522	54485522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacatcgagcgcagccgcGaggcgcactgccagtctcgc	7	6	12	16	6	2	0	0	0	2	0	4	2	2	0	2	1	4	2	2	1	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54485522G>A	ENST00000270458.2	+	4	800	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	233					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGCAGCCGCGAGGCGCACTG	0.687													7	20					0	0	0	0	A	54485522	G	A	54485522	3	1	460	1	0	0	0	0	1	0	0	0	2588	1059	37	1	711	1	CACNG8	19	54485522	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	171890	54485522	4643461	400	89560											
LILRA6	79168	broad.mit.edu	37	chr19	54744365	54744365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagtgtcaaaataacccCgtgactgacacagcagggtc	14	6	11	10	1	1	2	1	2	0	0	2	3	1	3	2	2	2	1	2	2	4	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54744365C>T	ENST00000419410.2	-	6	1044	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.R348Q|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Missense_Mutation_p.R348Q|LILRA6_ENST00000270464.5_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAAATAACCCCGTGACTGACA	0.547													53	69					0	0	0	0	T	54744365	C	T	54744365	3	4	460	1	0	0	0	0	1	0	0	0	8843	652	23	1	414	1	LILRA6	19	54744365	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	258843	54744365	4384618	401	89561											
ZNF470	388566	broad.mit.edu	37	chr19	57089213	57089213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtctcttactcttcatcaGagagttcatactggagagaa	11	12	10	8	0	5	2	3	0	2	2	6	5	5	3	0	2	2	1	0	2	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:57089213G>C	ENST00000330619.8	+	6	2102	c.1416G>C	c.(1414-1416)caG>caC	p.Q472H	ZNF470_ENST00000391709.3_Missense_Mutation_p.Q472H|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTCTTCATCAGAGAGTTCATA	0.438													9	122					0	0	0	0	C	57089213	G	C	57089213	3	2	460	1	0	0	0	0	1	0	0	0	18024	933	33	2	1430	2	ZNF470	19	57089213	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	2344848	57089213	2039770	402	89562											
ZIM3	114026	broad.mit.edu	37	chr19	57646326	57646326	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgcctaacaaggtatGacctgtcagcgaaggcttta	10	11	11	9	1	2	1	1	1	1	0	2	2	2	1	2	3	3	2	2	3	5	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:57646326G>T	ENST00000269834.1	-	5	1764	c.1379C>A	c.(1378-1380)tCa>tAa	p.S460*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACAAGGTATGACCTGTCAGC	0.423													39	67					6.5261e-18	6.83687e-18	1	0	T	57646326	G	T	57646326	4	4	460	1	0	0	0	0	0	1	0	0	17780	1294	45	2	43	2	ZIM3	19	57646326	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	557113	57646326	1482657	403	89563											
ZNF606	80095	broad.mit.edu	37	chr19	58491454	58491454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtacttgcttttgcatgaaGaccatctgcctcatagctgt	9	14	8	10	0	2	2	1	1	1	1	2	2	2	2	2	0	5	4	2	0	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:58491454G>A	ENST00000341164.4	-	7	1214	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ZNF606_ENST00000536132.1_Silent_p.V108V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		TTTGCATGAAGACCATCTGCC	0.423													11	116					0	0	0	0	A	58491454	G	A	58491454	2	1	460	1	0	0	0	0	0	0	0	1	18127	929	33	2		2	ZNF606	19	58491454	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	845128	58491454	637529	404	89564											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850485	58850485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcgactgctcagccctGatccgacatctgagaatcca	10	9	8	14	2	3	2	2	2	1	1	5	5	5	2	3	0	3	1	3	0	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:58850485G>A	ENST00000329665.4	+	3	1416	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCTCAGCCCTGATCCGACATC	0.577													50	98					0	0	0	0	A	58850485	G	A	58850485	2	1	460	1	0	0	0	0	0	0	0	1	18326	1277	45	2		2	ZSCAN22	19	58850485	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	359031	58850485	278498	405	89565											
C20orf26	26074	broad.mit.edu	37	chr20	20257901	20257901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcggcagccgcatccacctCgtgcagcccccgcccgcctc	5	4	10	22	5	0	0	0	0	0	0	3	0	1	0	7	1	4	3	7	1	0	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:20257901C>T	ENST00000245957.5	+	22	2671	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L	C20orf26_ENST00000377309.2_Silent_p.L221L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	865										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCATCCACCTCGTGCAGCCCC	0.582													34	44					0	0	0	0	T	20257901	C	T	20257901	2	4	460	1	0	0	0	0	0	0	0	1	2126	871	31	1		1	C20orf26	20	20257901	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		20257901	42767619	406	89566											
NKX2-2	4821	broad.mit.edu	37	chr20	21492988	21492988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcgccttggagaaaagcactCgccgctttcgcttcttgccg	6	10	11	14	5	1	1	0	0	1	1	3	2	1	1	3	1	2	3	3	1	2	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:21492988C>G	ENST00000377142.4	-	2	751	c.395G>C	c.(394-396)cGa>cCa	p.R132P		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	132					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAAAAGCACTCGCCGCTTTCG	0.682													3	33					0	0	0	0	G	21492988	C	G	21492988	3	3	460	1	0	0	0	0	1	0	0	0	10520	884	31	3	430	3	NKX2-2	20	21492988	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1235087	21492988	41532532	407	89567											
CST9L	128821	broad.mit.edu	37	chr20	23546622	23546622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcttacattgttcagctCtgtgctttcttggaaatggc	6	17	9	9	0	4	0	1	0	3	0	4	1	4	1	0	2	3	3	0	2	2	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:23546622C>T	ENST00000376979.3	-	2	641	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	115						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTGTTCAGCTCTGTGCTTTCT	0.502													34	113					0	0	0	0	T	23546622	C	T	23546622	3	4	460	1	0	0	0	0	1	0	0	0	4012	922	32	2	108	2	CST9L	20	23546622	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	2053634	23546622	39478898	408	89568											
CST3	1471	broad.mit.edu	37	chr20	23615922	23615922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctggtcatggaaggggCagttgtccaagttgggctgg	6	10	19	6	0	1	0	1	0	0	0	2	1	2	1	1	7	0	5	1	7	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:23615922C>T	ENST00000398411.1	-	2	408	c.326G>A	c.(325-327)tGc>tAc	p.C109Y	CST3_ENST00000376925.3_Missense_Mutation_p.C109Y|CST3_ENST00000398409.1_Missense_Mutation_p.C109Y			P01034	CYTC_HUMAN	cystatin C	109					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ATGGAAGGGGCAGTTGTCCAA	0.542													13	44					0	0	0	0	T	23615922	C	T	23615922	3	4	460	1	0	0	0	0	1	0	0	0	4005	710	25	4	122	4	CST3	20	23615922	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	69300	23615922	39409598	409	89569											
NCOA5	57727	broad.mit.edu	37	chr20	44697275	44697275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcggtcataagagccttctCtcctgaaaagttaaggaaat	14	11	8	8	1	2	2	1	1	1	1	5	3	3	3	2	2	1	1	2	2	5	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:44697275C>T	ENST00000290231.6	-	4	532	c.368G>A	c.(367-369)aGa>aAa	p.R123K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	123	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGAGCCTTCTCTCCTGAAAAG	0.383													6	81					0	0	0	0	T	44697275	C	T	44697275	3	4	460	1	0	0	0	0	1	0	0	0	10302	913	32	2	1391	2	NCOA5	20	44697275	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	21081353	44697275	18328245	410	89570											
LAMA5	3911	broad.mit.edu	37	chr20	60886121	60886121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggaggcctcgggagcttCgcgggaggacgtgcatggag	7	5	21	8	4	0	0	0	0	0	0	2	6	0	6	1	7	2	2	1	7	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:60886121C>T	ENST00000252999.3	-	74	10184	c.10118G>A	c.(10117-10119)cGa>cAa	p.R3373Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3373	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGGGAGCTTCGCGGGAGGAC	0.682													18	25					0	0	0	0	T	60886121	C	T	60886121	3	4	460	1	0	0	0	0	1	0	0	0	8662	884	31	1	997	1	LAMA5	20	60886121	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	16188846	60886121	2139399	411	89571											
COL20A1	57642	broad.mit.edu	37	chr20	61959496	61959496	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgtgagtctgccattcaGagtgagtgaggccagcagcc	8	8	14	11	0	2	4	1	3	1	1	2	4	2	4	4	1	3	1	4	1	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:61959496G>C	ENST00000422202.1	+	32	3719	c.3652_splice	c.e32+1	p.Q1217_splice	COL20A1_ENST00000326996.6_Intron|COL20A1_ENST00000358894.6_Intron|COL20A1_ENST00000435874.1_Splice_Site_p.Q1217_splice			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1204					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCCATTCAGAGTGAGTGAG	0.637													15	27					0	0	0	0	C	61959496	G	C	61959496	5	2	460	1	0	0	0	0	0	0	1	0	3709	957	33	2		2	COL20A1	20	61959496	Splice_Site	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	1073375	61959496	1066024	412	89572											
TPD52L2	7165	broad.mit.edu	37	chr20	62505152	62505152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccaggagctggcatgaCgtgcaggtctctagcgcgta	7	9	14	11	3	1	1	0	1	1	0	3	2	2	2	1	3	3	4	1	3	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:62505152C>T	ENST00000217121.5	+	3	369	c.297C>T	c.(295-297)gaC>gaT	p.D99D	TPD52L2_ENST00000352482.4_Silent_p.D99D|TPD52L2_ENST00000346249.4_Silent_p.D99D|TPD52L2_ENST00000369927.4_Silent_p.D76D|TPD52L2_ENST00000351424.4_Silent_p.D99D|TPD52L2_ENST00000358548.4_Silent_p.D99D|TPD52L2_ENST00000348257.5_Silent_p.D99D	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	99					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	p.D99D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCTGGCATGACGTGCAGGTCT	0.662													4	17					0	0	0	0	T	62505152	C	T	62505152	2	4	460	1	0	0	0	0	0	0	0	1	16494	535	19	1		1	TPD52L2	20	62505152	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	545656	62505152	520368	413	89573											
APP	351	broad.mit.edu	37	chr21	27326976	27326976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagactgattcatgcgctCataaatcacacggaggtgtg	12	9	12	8	2	3	2	3	1	0	1	3	5	3	3	0	2	1	1	0	2	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:27326976C>G	ENST00000358918.3	-	13	1814	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	APP_ENST00000346798.3_Missense_Mutation_p.E539Q|APP_ENST00000440126.3_Missense_Mutation_p.E515Q|APP_ENST00000439274.2_Missense_Mutation_p.E483Q|APP_ENST00000448388.2_Missense_Mutation_p.E429Q|APP_ENST00000357903.3_Missense_Mutation_p.E520Q|APP_ENST00000348990.5_Missense_Mutation_p.E464Q|APP_ENST00000359726.3_Missense_Mutation_p.E483Q|APP_ENST00000354192.3_Missense_Mutation_p.E408Q	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	539	Collagen-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTCATGCGCTCATAAATCACA	0.458													13	20					0	0	0	0	G	27326976	C	G	27326976	3	3	460	1	0	0	0	0	1	0	0	0	817	835	29	2	721	2	APP	21	27326976	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		27326976	20802919	414	89574											
IFNGR2	3460	broad.mit.edu	37	chr21	34809153	34809153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatttaaaagacccaactCagcccatcttagaggccttg	13	10	7	11	0	2	2	1	0	1	2	2	2	2	2	3	1	2	1	3	1	5	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:34809153C>G	ENST00000290219.6	+	7	1546	c.898C>G	c.(898-900)Cag>Gag	p.Q300E	IFNGR2_ENST00000381995.1_Missense_Mutation_p.Q319E|IFNGR2_ENST00000405436.1_Missense_Mutation_p.Q221E	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	300					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AGACCCAACTCAGCCCATCTT	0.403													17	50					0	0	0	0	G	34809153	C	G	34809153	3	3	460	1	0	0	0	0	1	0	0	0	7603	827	29	2	924	2	IFNGR2	21	34809153	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	7482177	34809153	13320742	415	89575											
BRWD1	54014	broad.mit.edu	37	chr21	40571183	40571183	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaatcactttctgactctGagtctctgttttcagattca	9	16	6	10	0	6	3	3	2	3	1	7	3	6	3	0	0	0	2	0	0	1	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:40571183G>C	ENST00000342449.3	-	40	5237	c.5159C>G	c.(5158-5160)tCa>tGa	p.S1720*	BRWD1_ENST00000333229.2_Nonsense_Mutation_p.S1720*|BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1720*	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCTGACTCTGAGTCTCTGTT	0.398													38	49					0	0	0	0	C	40571183	G	C	40571183	4	2	460	1	0	0	0	0	0	1	0	0	1533	1294	45	2	2054	2	BRWD1	21	40571183	Nonsense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5762030	40571183	7558712	416	89576											
MICAL3	57553	broad.mit.edu	37	chr22	18293498	18293498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgcagccgcttaagctcctCctgcttggcctgtctccgag	5	11	10	15	2	1	0	0	0	1	0	4	1	3	0	5	1	4	4	5	1	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:18293498C>G	ENST00000441493.2	-	28	5879	c.5527G>C	c.(5527-5529)Gag>Cag	p.E1843Q	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1843						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTAAGCTCCTCCTGCTTGGCC	0.582													37	51					0	0	0	0	G	18293498	C	G	18293498	3	3	460	1	0	0	0	0	1	0	0	0	9640	864	30	2	501	2	MICAL3	22	18293498	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		18293498	33011068	417	89577											
TRMT2A	27037	broad.mit.edu	37	chr22	20103616	20103616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcttccgctcaagctgctCagcatagggcactgtccata	8	10	9	14	1	2	0	2	0	0	0	4	0	4	0	2	1	4	6	2	1	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:20103616C>T	ENST00000252136.7	-	2	932	c.544G>A	c.(544-546)Gag>Aag	p.E182K	TRMT2A_ENST00000404751.3_Missense_Mutation_p.E182K|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E182K|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E182K|RANBP1_ENST00000430524.1_5'UTR	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	182					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TCAAGCTGCTCAGCATAGGGC	0.637													64	76					0	0	0	0	T	20103616	C	T	20103616	3	4	460	1	0	0	0	0	1	0	0	0	16660	835	29	2	1377	2	TRMT2A	22	20103616	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1810118	20103616	31200950	418	89578											
ZNF74	7625	broad.mit.edu	37	chr22	20760525	20760525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggccttcacctgccactCatccctcaccgtgcatgaga	9	8	7	17	1	3	1	3	1	0	1	4	2	4	1	5	1	2	1	5	1	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:20760525C>T	ENST00000400451.2	+	5	1716	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	ZNF74_ENST00000405993.1_Missense_Mutation_p.S369L|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.S401L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	401					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACCTGCCACTCATCCCTCACC	0.637													6	135					0	0	0	0	T	20760525	C	T	20760525	3	4	460	1	0	0	0	0	1	0	0	0	18221	838	29	2	1220	2	ZNF74	22	20760525	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	656909	20760525	30544041	419	89579											
CABP7	164633	broad.mit.edu	37	chr22	30125495	30125495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatctgcgccttcgccatCgccttcatcatcagtgtcat	6	13	6	16	3	6	0	5	0	1	0	8	0	6	0	3	0	1	0	3	0	0	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:30125495C>T	ENST00000216144.3	+	5	926	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	195						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CCTTCGCCATCGCCTTCATCA	0.637													102	99					0	0	0	0	T	30125495	C	T	30125495	2	4	460	1	0	0	0	0	0	0	0	1	2560	874	31	1		1	CABP7	22	30125495	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	9364970	30125495	21179071	420	89580											
ISX	91464	broad.mit.edu	37	chr22	35463264	35463264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggccccggagaagctgcgGcctcaggctctgggctagaa	8	5	16	12	2	2	2	1	0	1	2	2	3	2	2	3	5	2	3	3	5	3	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:35463264G>A	ENST00000308700.6	+	1	1136	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.A62T	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						AGAAGCTGCGGCCTCAGGCTC	0.572													10	24					0	0	0	0	A	35463264	G	A	35463264	3	1	460	1	0	0	0	0	1	0	0	0	7918	1203	42	4	186	4	ISX	22	35463264	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5337769	35463264	15841302	421	89581											
TRMU	55687	broad.mit.edu	37	chr22	46746283	46746283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggagaaccatcttccctCtggggggattaacgaaagag	12	8	13	8	1	2	3	0	1	2	2	3	6	3	4	2	4	2	0	2	4	3	2	rs149815191		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:46746283C>T	ENST00000290846.4	+	5	914	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Silent_p.L192L	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	192						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CATCTTCCCTCTGGGGGGATT	0.488													98	103					0	0	0	0	T	46746283	C	T	46746283	2	4	460	1	0	0	0	0	0	0	0	1	16666	912	32	2		2	TRMU	22	46746283	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	11283019	46746283	4558283	422	89582											
CELSR1	9620	broad.mit.edu	37	chr22	46776737	46776737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggttcgctcctccacctCcagcagggcgaactccacca	7	8	8	18	2	0	0	0	0	0	0	5	1	4	0	6	2	2	3	6	2	1	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:46776737C>T	ENST00000262738.3	-	22	7203	c.7204G>A	c.(7204-7206)Gag>Aag	p.E2402K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2402					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCCACCTCCAGCAGGGCG	0.632													34	131					0	0	0	0	T	46776737	C	T	46776737	3	4	460	1	0	0	0	0	1	0	0	0	3250	864	30	2	1896	2	CELSR1	22	46776737	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	30454	46776737	4527829	423	89583											
CERK	64781	broad.mit.edu	37	chr22	47095252	47095252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccaaccaccgtttcttctCactgtccttgatgatgtccc	7	13	5	16	1	2	2	1	2	2	0	5	2	4	2	5	0	1	1	5	0	1	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:47095252C>T	ENST00000216264.8	-	8	1013	c.901G>A	c.(901-903)Gag>Aag	p.E301K	CERK_ENST00000541677.1_Missense_Mutation_p.E103K	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	301					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTTTCTTCTCACTGTCCTTG	0.562													133	119					0	0	0	0	T	47095252	C	T	47095252	3	4	460	1	0	0	0	0	1	0	0	0	3296	835	29	2	736	2	CERK	22	47095252	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	318515	47095252	4209314	424	89584											
PLXNB2	23654	broad.mit.edu	37	chr22	50719804	50719804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagtagcagtagacaGacaccgcgatgacgaccacc	13	4	9	15	3	1	3	1	1	0	2	1	5	1	3	4	0	1	3	4	0	2	2			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:50719804G>T	ENST00000449103.1	-	22	3787	c.3647C>A	c.(3646-3648)tCt>tAt	p.S1216Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1216Y			O15031	PLXB2_HUMAN	plexin B2	1216					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGTAGACAGACACCGCGAT	0.697													37	36					2.87052e-16	2.99624e-16	1	0	T	50719804	G	T	50719804	3	4	460	1	0	0	0	0	1	0	0	0	12196	942	33	2	1933	2	PLXNB2	22	50719804	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	3624552	50719804	584762	425	89585											
MXRA5	25878	broad.mit.edu	37	chrX	3228540	3228540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaggctgggtgtcggggtCcccgcggcagagcagttgag	6	6	18	11	3	0	2	0	1	0	1	2	2	1	2	3	5	1	4	3	5	0	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:3228540C>T	ENST00000217939.6	-	7	7858	c.7704G>A	c.(7702-7704)ggG>ggA	p.G2568G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2568	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGTCGGGGTCCCCGCGGCAG	0.627													16	2					0	0	0	0	T	3228540	C	T	3228540	2	4	460	1	0	0	0	0	0	0	0	1	10073	842	30	2		2	MXRA5	23	3228540	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08		3228540	152042020	426	89586											
MXRA5	25878	broad.mit.edu	37	chrX	3228714	3228714	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagctggacggagtcgctCttcctcaaactcctgatgtc	8	10	9	14	2	2	1	1	1	1	0	6	3	4	3	3	2	2	2	3	2	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:3228714C>G	ENST00000217939.6	-	7	7684	c.7530G>C	c.(7528-7530)aaG>aaC	p.K2510N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2510	Ig-like C2-type 9.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGGAGTCGCTCTTCCTCAAAC	0.572													18	5					0	0	0	0	G	3228714	C	G	3228714	3	3	460	1	0	0	0	0	1	0	0	0	10073	912	32	2	960	2	MXRA5	23	3228714	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	174	3228714	152041846	427	89587											
USP9X	8239	broad.mit.edu	37	chrX	41088907	41088907	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccatatactggcaatcctCagtacacttacaacaattgg	14	10	6	11	0	1	0	1	0	0	0	2	1	2	0	2	2	4	2	2	2	7	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:41088907C>T	ENST00000324545.7	+	43	7939	c.7306C>T	c.(7306-7308)Cag>Tag	p.Q2436*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q2436*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2436					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.Q2429*(1)|p.Q2436*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGGCAATCCTCAGTACACTTA	0.428													42	16					0	0	0	0	T	41088907	C	T	41088907	4	4	460	1	0	0	0	0	0	1	0	0	17186	827	29	2	7472	2	USP9X	23	41088907	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	37860193	41088907	114181653	428	89588											
UBA1	7317	broad.mit.edu	37	chrX	47069517	47069517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgcacaacttccctcctGaccaggtaatgcccagttgt	8	11	8	14	0	0	1	0	1	0	0	2	1	2	1	4	1	4	4	4	1	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:47069517G>C	ENST00000335972.6	+	18	2377	c.2194G>C	c.(2194-2196)Gac>Cac	p.D732H	UBA1_ENST00000377269.3_Missense_Mutation_p.D180H|UBA1_ENST00000377351.4_Missense_Mutation_p.D732H	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	732					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTCCCTCCTGACCAGGTAAT	0.597													30	16					0	0	0	0	C	47069517	G	C	47069517	3	2	460	1	0	0	0	0	1	0	0	0	16923	1290	45	2	2260	2	UBA1	23	47069517	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	5980610	47069517	108201043	429	89589											
ZNF182	7569	broad.mit.edu	37	chrX	47836981	47836981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaataagtctaaattatCtaccatattatttccaaatg	17	15	2	7	0	2	0	0	0	2	0	3	0	3	0	2	0	1	0	2	0	10	8			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:47836981C>A	ENST00000396965.1	-	7	855	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	ZNF182_ENST00000376943.3_Missense_Mutation_p.D150Y|ZNF182_ENST00000305127.6_Missense_Mutation_p.D169Y	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCTAAATTATCTACCATATTA	0.323													20	14					8.34094e-07	8.45925e-07	1	0	A	47836981	C	A	47836981	3	1	460	1	0	0	0	0	1	0	0	0	17845	913	32	2	1418	2	ZNF182	23	47836981	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	767464	47836981	107433579	430	89590											
SUV39H1	6839	broad.mit.edu	37	chrX	48558860	48558860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaggtggctgtgggctgcGagtgccaggactgtctgtgg	5	9	18	9	1	1	0	0	0	1	0	1	2	1	1	2	5	2	2	2	5	0	0			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:48558860G>A	ENST00000376687.3	+	3	734	c.544G>A	c.(544-546)Gag>Aag	p.E182K	SUV39H1_ENST00000337852.6_Missense_Mutation_p.E193K|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Intron	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	182	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGTGGGCTGCGAGTGCCAGGA	0.637													36	10					0	0	0	0	A	48558860	G	A	48558860	3	1	460	1	0	0	0	0	1	0	0	0	15502	1059	37	1	554	1	SUV39H1	23	48558860	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	721879	48558860	106711700	431	89591											
CACNA1F	778	broad.mit.edu	37	chrX	49070718	49070718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatagttgaagggagcagtCtgctcatagtgctgcaggag	10	9	15	7	0	2	1	1	1	1	0	2	3	2	3	0	2	4	6	0	2	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49070718C>G	ENST00000376265.2	-	30	3703	c.3642G>C	c.(3640-3642)caG>caC	p.Q1214H	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q1149H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q1203H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1214					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGGGAGCAGTCTGCTCATAGT	0.527													49	18					0	0	0	0	G	49070718	C	G	49070718	3	3	460	1	0	0	0	0	1	0	0	0	2568	912	32	2	2367	2	CACNA1F	23	49070718	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	511858	49070718	106199842	432	89592											
CCDC22	28952	broad.mit.edu	37	chrX	49104139	49104139	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcagctcaggaacaggagctCgagtcccttcgggagcagct	9	6	14	12	2	1	0	1	0	0	0	4	4	2	3	1	3	5	5	1	3	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49104139C>G	ENST00000376227.3	+	9	1172	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	334										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AACAGGAGCTCGAGTCCCTTC	0.642													9	1					0	0	0	0	G	49104139	C	G	49104139	2	3	460	1	0	0	0	0	0	0	0	1	2823	871	31	3		3	CCDC22	23	49104139	Silent	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	33421	49104139	106166421	433	89593											
CCDC22	28952	broad.mit.edu	37	chrX	49104913	49104913	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtcatccacttggcgggtCagtgggagaagcaccgggtc	7	7	17	10	2	2	1	2	0	0	1	4	2	3	1	2	5	1	1	2	5	1	1			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49104913C>T	ENST00000376227.3	+	11	1428	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	420										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CTTGGCGGGTCAGTGGGAGAA	0.647													33	6					0	0	0	0	T	49104913	C	T	49104913	4	4	460	1	0	0	0	0	0	1	0	0	2823	827	29	2	1300	2	CCDC22	23	49104913	Nonsense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	774	49104913	106165647	434	89594											
BRWD3	254065	broad.mit.edu	37	chrX	79945534	79945534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataggactgtctggctcattGaaagtcctggcattatgttc	9	14	10	8	0	2	1	1	1	1	0	4	2	3	2	1	3	0	3	1	3	3	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:79945534G>A	ENST00000373275.4	-	32	3876	c.3660C>T	c.(3658-3660)ttC>ttT	p.F1220F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1220	Bromo 1.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGGCTCATTGAAAGTCCTGG	0.363													14	6					0	0	0	0	A	79945534	G	A	79945534	2	1	460	1	0	0	0	0	0	0	0	1	1534	1281	45	2		2	BRWD3	23	79945534	Silent	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	30840621	79945534	75325026	435	89595											
NAP1L3	4675	broad.mit.edu	37	chrX	92926978	92926978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatctcaggaggactaaaGaagttgaagaatgatgcatt	16	9	12	4	0	1	4	1	2	1	2	2	7	1	7	0	3	1	2	0	3	6	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:92926978G>C	ENST00000373079.3	-	1	1589	c.1326C>G	c.(1324-1326)ttC>ttG	p.F442L	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	442					nucleosome assembly	chromatin assembly complex		p.F442F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GAGGACTAAAGAAGTTGAAGA	0.423													12	0					0	0	0	0	C	92926978	G	C	92926978	3	2	460	1	0	0	0	0	1	0	0	0	10228	933	33	2	198	2	NAP1L3	23	92926978	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	12981444	92926978	62343582	436	89596											
FAM133A	286499	broad.mit.edu	37	chrX	92964593	92964593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaggttcaaaagcattaGctgaatttgaagaaaaaatg	20	9	8	4	0	1	3	1	2	0	1	1	3	1	3	0	1	3	3	0	1	9	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:92964593G>A	ENST00000538690.1	+	5	736	c.175G>A	c.(175-177)Gct>Act	p.A59T	FAM133A_ENST00000332647.4_Missense_Mutation_p.A59T|FAM133A_ENST00000322139.4_Missense_Mutation_p.A59T|FAM133A_ENST00000355813.5_Missense_Mutation_p.A59T	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	59	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAGCATTAGCTGAATTTGA	0.323													5	16					0	0	0	0	A	92964593	G	A	92964593	3	1	460	1	0	0	0	0	1	0	0	0	5484	971	34	4	177	4	FAM133A	23	92964593	Missense_Mutation	SNP	G	TCGA-P3-A5QF-01A-11D-A28R-08	37615	92964593	62305967	437	89597											
MAGEA10	4109	broad.mit.edu	37	chrX	151303324	151303324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaggtgctccatcccatCatacagccccatcatattca	12	10	5	14	0	3	1	3	1	0	0	5	1	5	1	4	1	3	1	4	1	3	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151303324C>T	ENST00000370323.4	-	4	1085	c.769G>A	c.(769-771)Gat>Aat	p.D257N	MAGEA10_ENST00000244096.3_Missense_Mutation_p.D257N|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	257	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCATCCCATCATACAGCCCC	0.527													65	28					0	0	0	0	T	151303324	C	T	151303324	3	4	460	1	0	0	0	0	1	0	0	0	9229	826	29	2	344	2	MAGEA10	23	151303324	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	58338731	151303324	3967236	438	89598			6	149		3	3	727	C		5.137776e-05
MAGEA10	4109	broad.mit.edu	37	chrX	151303696	151303696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcaccttttcatctatctCacttctgggtaaagactcac	10	14	5	12	0	6	1	4	0	3	1	7	1	6	1	1	1	0	1	1	1	3	5			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151303696C>G	ENST00000370323.4	-	4	713	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E133Q|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	133										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTATCTCACTTCTGGGT	0.468													77	39					0	0	0	0	G	151303696	C	G	151303696	3	3	460	1	0	0	0	0	1	0	0	0	9229	835	29	2	716	2	MAGEA10	23	151303696	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	372	151303696	3966864	439	89599			6	149		3	3	727	C		5.137776e-05
MAGEA10	4109	broad.mit.edu	37	chrX	151304050	151304050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcactttgggattgaagatCttcttcaggcatgcagcgct	8	13	10	10	1	4	2	2	1	2	1	4	3	4	3	0	2	2	3	0	2	1	4			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151304050C>G	ENST00000370323.4	-	4	359	c.43G>C	c.(43-45)Gat>Cat	p.D15H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.D15H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	15										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATTGAAGATCTTCTTCAGGC	0.582													69	38					0	0	0	0	G	151304050	C	G	151304050	3	3	460	1	0	0	0	0	1	0	0	0	9229	913	32	2	1070	2	MAGEA10	23	151304050	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	354	151304050	3966510	440	89600			6	149		3	3	727	C		5.137776e-05
RENBP	5973	broad.mit.edu	37	chrX	153207040	153207040	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acttgtcaatcacgtgggctCgaagttcggggtcgcctttc	6	12	12	11	4	2	0	2	0	0	0	6	1	2	0	1	3	0	2	1	3	2	3			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:153207040C>G	ENST00000393700.3	-	8	916	c.836G>C	c.(835-837)cGa>cCa	p.R279P	RENBP_ENST00000412763.1_Missense_Mutation_p.E252Q|RENBP_ENST00000369997.3_Missense_Mutation_p.R265P	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	279					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	CACGTGGGCTCGAAGTTCGGG	0.592													46	56					0	0	0	0	G	153207040	C	G	153207040	3	3	460	1	0	0	0	0	1	0	0	0	13307	884	31	3	463	3	RENBP	23	153207040	Missense_Mutation	SNP	C	TCGA-P3-A5QF-01A-11D-A28R-08	1902990	153207040	2063520	441	89601											
CASZ1	54897	broad.mit.edu	37	chr1	10720504	10720504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgatcttcctggccagctCgtcccgcgtgttctggtcat	3	13	11	14	3	3	1	1	1	2	0	6	1	5	1	3	2	1	3	3	2	0	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:10720504C>T	ENST00000377022.3	-	6	912	c.595G>A	c.(595-597)Gag>Aag	p.E199K	CASZ1_ENST00000344008.5_Missense_Mutation_p.E199K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTGGCCAGCTCGTCCCGCGTG	0.637													5	42					0	0	0	0	T	10720504	C	T	10720504	3	4	461	1	0	0	0	0	1	0	0	0	2710	893	31	1	4752	1	CASZ1	1	10720504	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08		10720504	238530117	1	89602											
MACF1	23499	broad.mit.edu	37	chr1	39806219	39806219	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccaccttggtcagtcagGagctggagtgtgtgaatcag	9	10	14	8	0	3	2	3	2	0	0	3	4	3	4	2	3	1	1	2	3	1	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:39806219G>T	ENST00000564288.1	+	39	11038	c.10261G>T	c.(10261-10263)Gag>Tag	p.E3421*	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E3426*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E3458*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E1861*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3426					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTCAGTCAGGAGCTGGAGTG	0.443													5	45					8.12818e-05	8.3655e-05	1	0	T	39806219	G	T	39806219	4	4	461	1	0	0	0	0	0	1	0	0	9209	1175	41	2	10360	2	MACF1	1	39806219	Nonsense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	29085715	39806219	209444402	2	89603											
PTPRF	5792	broad.mit.edu	37	chr1	44086606	44086606	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcattgacttcatcgggcAggtgcataagaccaaggagc	12	9	11	9	1	2	2	2	1	0	1	3	3	2	3	1	3	2	2	1	3	2	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:44086606A>T	ENST00000359947.4	+	32	5802	c.5462A>T	c.(5461-5463)cAg>cTg	p.Q1821L	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1180L|PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1812L|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1821L|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1812L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1821	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCATCGGGCAGGTGCATAAG	0.612													6	45					0	0	0	0	T	44086606	A	T	44086606	3	4	461	1	0	0	0	0	1	0	0	0	12883	188	7	5	5580	5	PTPRF	1	44086606	Missense_Mutation	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08	4280387	44086606	205164015	3	89604											
OVGP1	5016	broad.mit.edu	37	chr1	111965617	111965617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaacagcagcagacagCagcagcctcgggcgcatggt	12	3	13	13	2	0	2	0	0	0	2	1	2	0	2	2	2	6	5	2	2	1	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:111965617C>T	ENST00000369732.3	-	6	595	c.540G>A	c.(538-540)ctG>ctA	p.L180L	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Silent_p.L120L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	180					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CAGCAGACAGCAGCAGCCTCG	0.537													16	180					0	0	0	0	T	111965617	C	T	111965617	2	4	461	1	0	0	0	0	0	0	0	1	11396	697	25	4		4	OVGP1	1	111965617	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	67879011	111965617	137285004	4	89605											
PTGFRN	5738	broad.mit.edu	37	chr1	117484384	117484384	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccacagcgaccctggttCgagtggtgggcactgagctg	6	8	14	13	2	0	1	0	1	0	0	2	3	1	1	3	3	2	3	3	3	0	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:117484384C>T	ENST00000393203.2	+	2	244	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	33	Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACCCTGGTTCGAGTGGTGGG	0.537													13	83					0	0	0	0	T	117484384	C	T	117484384	4	4	461	1	0	0	0	0	0	1	0	0	12830	876	31	1	103	1	PTGFRN	1	117484384	Nonsense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	5518767	117484384	131766237	5	89606											
SELENBP1	8991	broad.mit.edu	37	chr1	151345138	151345138	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccgactggtacactttGatcccggcgggtttgctgtg	4	12	14	11	3	0	1	0	1	0	0	1	2	1	1	2	3	3	4	2	3	1	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:151345138G>C	ENST00000426705.2	-	0	41				SELENBP1_ENST00000435071.1_De_novo_Start_OutOfFrame|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_De_novo_Start_OutOfFrame|SELENBP1_ENST00000368868.5_De_novo_Start_OutOfFrame	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1						protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GGTACACTTTGATCCCGGCGG	0.577											OREG0003915	type=REGULATORY REGION|Gene=SELENBP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	99					0	0	0	0	C	151345138	G	C	151345138	1	2	461	1	0	0	0	0	0	0	0	0	14101	1305	45	2		2	SELENBP1	1	151345138	Translation_Start_Site	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	33860754	151345138	97905483	6	89607											
TCHH	7062	broad.mit.edu	37	chr1	152083634	152083634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgttcctgctcctcctCagctagctcctgctcgcgcc	2	11	9	19	2	1	0	1	0	0	0	6	0	5	0	6	1	4	5	6	1	1	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:152083634C>G	ENST00000368804.1	-	2	2058	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	687					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCTCCTCAGCTAGCTCC	0.637													15	120					0	0	0	0	G	152083634	C	G	152083634	3	3	461	1	0	0	0	0	1	0	0	0	15794	835	29	2	3776	2	TCHH	1	152083634	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	738496	152083634	97166987	7	89608											
FLG	2312	broad.mit.edu	37	chr1	152275878	152275878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagcttcatggtgacgCgaccctgagtgcctggagcc	7	8	15	11	2	1	2	1	2	0	0	1	5	1	4	3	3	3	1	3	3	1	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:152275878C>T	ENST00000368799.1	-	3	11519	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3828	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis				41	504					0	0	0	0	T	152275878	C	T	152275878	2	4	461	1	0	0	0	0	0	0	0	1	5967	755	27	1		1	FLG	1	152275878	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	192244	152275878	96974743	8	89609											
LMNA	4000	broad.mit.edu	37	chr1	156100425	156100425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcaataccaagaaggaggGtgacctgatagctgctcagg	13	7	13	8	0	1	3	1	2	0	1	1	4	1	4	2	3	4	3	2	3	6	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:156100425G>C	ENST00000368300.4	+	2	586	c.374G>C	c.(373-375)gGt>gCt	p.G125A	LMNA_ENST00000473598.2_Missense_Mutation_p.G26A|LMNA_ENST00000448611.2_Missense_Mutation_p.G13A|LMNA_ENST00000368301.2_Missense_Mutation_p.G125A|LMNA_ENST00000392353.3_Missense_Mutation_p.G44A|LMNA_ENST00000368297.1_Missense_Mutation_p.G44A|LMNA_ENST00000368299.3_Missense_Mutation_p.G125A|LMNA_ENST00000361308.4_Missense_Mutation_p.G125A|LMNA_ENST00000347559.2_Missense_Mutation_p.G125A	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	125	Coil 1B.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AAGAAGGAGGGTGACCTGATA	0.567									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	91					0	0	0	0	C	156100425	G	C	156100425	3	2	461	1	0	0	0	0	1	0	0	0	8903	1261	44	4	380	4	LMNA	1	156100425	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	3824547	156100425	93150196	9	89610											
RC3H1	149041	broad.mit.edu	37	chr1	173952700	173952702	+	In_Frame_Del	DEL	CTT	CTT	-																															cctcatggcacgaatcctgcCttcttcttctactagttgac																										TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:173952700_173952702delCTT	ENST00000367696.2	-	4	797_799	c.446_448delAAG	c.(445-450)ggc>g	p.EG149del	RC3H1_ENST00000367694.2_In_Frame_Del_p.EG149del|RC3H1_ENST00000258349.4_In_Frame_Del_p.EG149del			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	149					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CGAATCCTGCCTTCTTCTTCTAC	0.483													28	87	---	---	---	---					-	173952702	CTT	-	173952700	7	5	461	1	0	1	0	1	0	0	0	0	13248	681	24	0	3021	0	RC3H1	1	173952700	In_Frame_Del	DEL	CTT	TCGA-P3-A6SW-01A-11D-A34J-08	17852275	173952700	75297921	10	89611											
TMCC2	9911	broad.mit.edu	37	chr1	205238090	205238090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccaggtcgataagggaGacctggtggccctgagcctc	7	8	13	13	1	0	2	0	1	0	1	3	4	1	2	5	4	1	0	5	4	1	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:205238090G>A	ENST00000358024.3	+	3	1149	c.760G>A	c.(760-762)Gac>Aac	p.D254N	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.D29N|TMCC2_ENST00000329800.7_Missense_Mutation_p.D14N|TMCC2_ENST00000545499.1_Missense_Mutation_p.D176N	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	254						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGATAAGGGAGACCTGGTGGC	0.647													5	97					0	0	0	0	A	205238090	G	A	205238090	3	1	461	1	0	0	0	0	1	0	0	0	16087	942	33	2	770	2	TMCC2	1	205238090	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	31285390	205238090	44012531	11	89612											
C4BPA	722	broad.mit.edu	37	chr1	207287510	207287510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattacgttgactgagacaCgcttcaaaactggaactact	14	11	7	9	2	1	2	1	2	0	1	1	4	1	3	0	1	4	2	0	1	6	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:207287510C>T	ENST00000367070.3	+	3	402	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	70	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GACTGAGACACGCTTCAAAAC	0.473													9	155					0	0	0	0	T	207287510	C	T	207287510	3	4	461	1	0	0	0	0	1	0	0	0	2270	536	19	1	214	1	C4BPA	1	207287510	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	2049420	207287510	41963111	12	89613											
MTR	4548	broad.mit.edu	37	chr1	237037072	237037072	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctcatttctgtgcctcaGagttattgatttaggagtca	8	17	9	7	0	4	2	3	1	2	1	5	3	4	3	1	1	1	1	1	1	2	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:237037072G>A	ENST00000366577.5	+	23	2799		c.e23-1		MTR_ENST00000535889.1_Splice_Site	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTGTGCCTCAGAGTTATTGAT	0.358													4	56					0	0	0	0	A	237037072	G	A	237037072	5	1	461	1	0	0	0	0	0	0	1	0	10028	956	33	2	2495	2	MTR	1	237037072	Splice_Site	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	29749562	237037072	12213549	13	89614											
OR2T6	254879	broad.mit.edu	37	chr1	248550957	248550957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaggctttaccctcatgggGctcttcactcacaataaatg	11	11	8	11	0	4	1	3	0	1	1	4	1	4	1	1	3	1	2	1	3	4	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:248550957G>A	ENST00000355728.2	+	1	48	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16G(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTCATGGGGCTCTTCACTC	0.423													4	101					0	0	0	0	A	248550957	G	A	248550957	2	1	461	1	0	0	0	0	0	0	0	1	11100	1190	42	4		4	OR2T6	1	248550957	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	11513885	248550957	699664	14	89615											
OSR1	130497	broad.mit.edu	37	chr2	19553234	19553234	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaagcgcggcttggtcttGagcgctggaacgctgcctcc	6	9	13	13	4	2	1	1	1	1	0	3	2	3	2	2	3	4	3	2	3	2	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:19553234G>C	ENST00000536433.1	-	1	3443	c.333C>G	c.(331-333)ctC>ctG	p.L111L	OSR1_ENST00000272223.2_Silent_p.L111L			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	111					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GCTTGGTCTTGAGCGCTGGAA	0.637													6	42					0	0	0	0	C	19553234	G	C	19553234	2	2	461	1	0	0	0	0	0	0	0	1	11364	1277	45	2		2	OSR1	2	19553234	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		19553234	223646139	15	89616											
SLC3A1	6519	broad.mit.edu	37	chr2	44547744	44547744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccaatcgagcatgctattCcagtgtactgaacatactgt	11	13	7	10	1	0	1	0	1	0	0	3	2	2	1	2	0	5	3	2	0	5	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:44547744C>T	ENST00000260649.6	+	10	2100	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.S397F|SLC3A1_ENST00000409740.3_Missense_Mutation_p.S306F|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	675					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCATGCTATTCCAGTGTACTG	0.418													9	68					0	0	0	0	T	44547744	C	T	44547744	3	4	461	1	0	0	0	0	1	0	0	0	14714	855	30	2	2062	2	SLC3A1	2	44547744	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	24994510	44547744	198651629	16	89617											
CLEC4F	165530	broad.mit.edu	37	chr2	71044037	71044037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgcaaactcaatgtagtgGcatcctttagaactcctttt	10	15	6	10	0	2	1	1	0	1	1	4	1	4	1	2	1	3	3	2	1	5	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:71044037G>A	ENST00000272367.2	-	4	552	c.476C>T	c.(475-477)gCc>gTc	p.A159V	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A159V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	159					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAATGTAGTGGCATCCTTTAG	0.483													24	81					0	0	0	0	A	71044037	G	A	71044037	3	1	461	1	0	0	0	0	1	0	0	0	3546	1203	42	4	1309	4	CLEC4F	2	71044037	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	26496293	71044037	172155336	17	89618											
TMEM131	23505	broad.mit.edu	37	chr2	98421912	98421912	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaaaataaatgtttgcAatctataaagaggcacagga	18	9	9	5	0	2	1	1	0	1	1	2	3	2	3	0	3	1	3	0	3	8	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:98421912A>G	ENST00000186436.5	-	21	2439	c.2211T>C	c.(2209-2211)atT>atC	p.I737I		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	737						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAATGTTTGCAATCTATAAAG	0.373													5	56					0	0	0	0	G	98421912	A	G	98421912	2	3	461	1	0	0	0	0	0	0	0	1	16138	126	5	5		5	TMEM131	2	98421912	Silent	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08	27377875	98421912	144777461	18	89619											
LRP1B	53353	broad.mit.edu	37	chr2	141283496	141283496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaacacacagtgaggtaGaattacatcttatgaaccct	15	9	8	9	0	1	4	0	2	1	2	1	4	1	4	1	1	3	2	1	1	6	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:141283496G>A	ENST00000389484.3	-	49	8914	c.7943C>T	c.(7942-7944)tCt>tTt	p.S2648F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2648	LDL-receptor class A 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGAGGTAGAATTACATCT	0.388										TSP Lung(27;0.18)			5	60					0	0	0	0	A	141283496	G	A	141283496	3	1	461	1	0	0	0	0	1	0	0	0	9019	942	33	2	6028	2	LRP1B	2	141283496	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	42861584	141283496	101915877	19	89620											
SCN1A	6323	broad.mit.edu	37	chr2	166850813	166850813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtagtcacatattcactCtggtcatctgtttccaccat	9	15	6	11	0	5	0	3	0	2	0	6	0	6	0	2	2	0	2	2	2	2	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:166850813C>G	ENST00000423058.2	-	25	4712	c.4695G>C	c.(4693-4695)caG>caC	p.Q1565H	SCN1A_ENST00000303395.4_Missense_Mutation_p.Q1565H|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q1537H|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q1554H	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1565						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATATTCACTCTGGTCATCTG	0.393													10	83					0	0	0	0	G	166850813	C	G	166850813	3	3	461	1	0	0	0	0	1	0	0	0	14001	912	32	2	1342	2	SCN1A	2	166850813	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	25567317	166850813	76348560	20	89621											
XIRP2	129446	broad.mit.edu	37	chr2	168102911	168102911	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacctgttctctgaggAaagatctgtaaagaaaggca	18	8	9	6	0	2	3	0	1	2	2	3	4	2	4	1	2	1	3	1	2	7	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:168102911A>T	ENST00000409195.1	+	9	5098	c.5009A>T	c.(5008-5010)gAa>gTa	p.E1670V	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1670V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1448V|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1495					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCTCTGAGGAAAGATCTGTA	0.313													5	74					0	0	0	0	T	168102911	A	T	168102911	3	4	461	1	0	0	0	0	1	0	0	0	17526	246	9	5	5039	5	XIRP2	2	168102911	Missense_Mutation	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08	1252098	168102911	75096462	21	89622											
XIRP2	129446	broad.mit.edu	37	chr2	168104131	168104131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaacagcatcttagagatGaatatatgagcagacaatta	18	9	9	5	0	1	5	0	2	1	3	1	7	1	5	0	0	3	2	0	0	7	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:168104131G>A	ENST00000409195.1	+	9	6318	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2077K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1855K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1902					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTTAGAGATGAATATATGAG	0.373													4	58					0	0	0	0	A	168104131	G	A	168104131	3	1	461	1	0	0	0	0	1	0	0	0	17526	1291	45	2	6259	2	XIRP2	2	168104131	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	1220	168104131	75095242	22	89623											
SATB2	23314	broad.mit.edu	37	chr2	200188670	200188670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaggtctgttgtcggtgtCgaggttttggcctaccaaga	6	12	16	7	2	1	1	0	0	1	1	3	3	1	2	2	5	1	2	2	5	2	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:200188670C>T	ENST00000443023.1	-	8	2686	c.1221G>A	c.(1219-1221)tcG>tcA	p.S407S	SATB2_ENST00000260926.5_Silent_p.S466S|SATB2_ENST00000457245.1_Silent_p.S466S|SATB2_ENST00000417098.1_Silent_p.S466S|SATB2_ENST00000428695.1_Silent_p.S348S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	466						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGTCGGTGTCGAGGTTTTGG	0.458													17	104					0	0	0	0	T	200188670	C	T	200188670	2	4	461	1	0	0	0	0	0	0	0	1	13940	871	31	1		1	SATB2	2	200188670	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	32084539	200188670	43010703	23	89624											
VGLL4	9686	broad.mit.edu	37	chr3	11600092	11600092	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaggggctggcgggctGgcccctgcgagaggcggact	5	4	21	11	3	0	2	0	0	0	2	0	4	0	3	2	8	1	3	2	8	0	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:11600092G>A	ENST00000273038.3	-	6	1176	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	VGLL4_ENST00000451674.2_Nonsense_Mutation_p.Q191*|VGLL4_ENST00000404339.1_Nonsense_Mutation_p.Q276*|VGLL4_ENST00000424529.2_Nonsense_Mutation_p.Q187*|VGLL4_ENST00000430365.2_Nonsense_Mutation_p.Q277*|VGLL4_ENST00000413604.1_Nonsense_Mutation_p.Q212*	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CTGGCGGGCTGGCCCCTGCGA	0.642													13	69					0	0	0	0	A	11600092	G	A	11600092	4	1	461	1	0	0	0	0	0	1	0	0	17257	1357	47	4	65	4	VGLL4	3	11600092	Nonsense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		11600092	186422338	24	89625											
CTNNB1	1499	broad.mit.edu	37	chr3	41266471	41266471	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggacagtatgcaatgactCgagctcagagggtacgagct	12	8	13	8	2	1	2	1	1	0	1	2	5	1	3	0	2	4	5	0	2	3	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:41266471C>T	ENST00000349496.5	+	4	548	c.268C>T	c.(268-270)Cga>Tga	p.R90*	CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R83*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R90*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	90					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.T3_A126del(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A20_S111del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.E15_I140>V(1)|p.V22_T102del(1)|p.H24_M131del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGCAATGACTCGAGCTCAGAG	0.428		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				13	153					0	0	0	0	T	41266471	C	T	41266471	4	4	461	1	0	0	0	0	0	1	0	0	4048	876	31	1	278	1	CTNNB1	3	41266471	Nonsense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	29666379	41266471	156755959	25	89626											
CTNNB1	1499	broad.mit.edu	37	chr3	41274855	41274855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgcaagctttaggacttCacctgacagatccaagtcaa	14	9	8	10	0	2	2	2	1	0	1	3	4	3	3	2	1	2	2	2	1	5	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:41274855C>T	ENST00000349496.5	+	8	1385	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y	CTNNB1_ENST00000405570.1_Missense_Mutation_p.H369Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.H369Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.H362Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.H369Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	369					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTTAGGACTTCACCTGACAGA	0.398		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				7	85					0	0	0	0	T	41274855	C	T	41274855	3	4	461	1	0	0	0	0	1	0	0	0	4048	826	29	2	1131	2	CTNNB1	3	41274855	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	8384	41274855	156747575	26	89627											
PLXNB1	5364	broad.mit.edu	37	chr3	48454538	48454538	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattctccagctggatctGaaccttcttatagtccctca	9	13	6	13	0	4	2	1	1	3	1	6	3	5	3	3	1	2	1	3	1	3	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:48454538G>A	ENST00000358536.4	-	24	4845	c.4576C>T	c.(4576-4578)Cag>Tag	p.Q1526*	PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.Q1343*|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.Q1343*|PLXNB1_ENST00000448774.2_Nonsense_Mutation_p.Q137*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.Q1526*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1526					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGGATCTGAACCTTCTTA	0.607													6	104					0	0	0	0	A	48454538	G	A	48454538	4	1	461	1	0	0	0	0	0	1	0	0	12195	1299	45	2	1891	2	PLXNB1	3	48454538	Nonsense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	7179683	48454538	149567892	27	89628											
TREX1	11277	broad.mit.edu	37	chr3	48507918	48507918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagctcgcagacagggcaGgattgtgcagggaaggcctg	9	6	18	8	1	0	1	0	0	0	1	1	4	0	4	1	5	2	4	1	5	1	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:48507918G>C	ENST00000422277.2	+	1	690	c.29G>C	c.(28-30)aGg>aCg	p.R10T	TREX1_ENST00000433541.1_Intron|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000492235.1_Intron|TREX1_ENST00000296443.9_Intron|TREX1_ENST00000436480.2_Intron|TREX1_ENST00000444177.1_Intron	NM_016381.3	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	10					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGACAGGGCAGGATTGTGCAG	0.597													7	52					0	0	0	0	C	48507918	G	C	48507918	3	2	461	1	0	0	0	0	1	0	0	0	16571	1000	35	4	31	4	TREX1	3	48507918	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	53380	48507918	149514512	28	89629											
ABHD6	57406	broad.mit.edu	37	chr3	58252993	58252993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttctgttattccttccgggGcaggcctgggcacaaaccct	6	11	11	13	1	1	0	0	0	1	0	3	0	3	0	4	4	1	4	4	4	2	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:58252993G>A	ENST00000478253.1	+	4	698	c.197G>A	c.(196-198)gGc>gAc	p.G66D	ABHD6_ENST00000295962.4_Missense_Mutation_p.G66D			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	66						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TCCTTCCGGGGCAGGCCTGGG	0.517													4	73					0	0	0	0	A	58252993	G	A	58252993	3	1	461	1	0	0	0	0	1	0	0	0	86	1203	42	4	203	4	ABHD6	3	58252993	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	9745075	58252993	139769437	29	89630											
BOC	91653	broad.mit.edu	37	chr3	112993426	112993426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcccatcatcctcagctCgccccgcacctccaagacag	8	6	7	20	2	2	1	2	0	0	1	6	1	5	1	6	1	1	3	6	1	1	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:112993426C>T	ENST00000495514.1	+	9	2143	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L	BOC_ENST00000355385.3_Missense_Mutation_p.S480L|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000273395.4_Missense_Mutation_p.S480L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	480	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ATCCTCAGCTCGCCCCGCACC	0.662													6	80					0	0	0	0	T	112993426	C	T	112993426	3	4	461	1	0	0	0	0	1	0	0	0	1486	893	31	1	1465	1	BOC	3	112993426	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	54740433	112993426	85029004	30	89631											
WDR52	55779	broad.mit.edu	37	chr3	113084971	113084971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaagatattgccatctgctCcagcagtcaccaagaaacga	15	7	7	12	1	2	2	1	0	1	2	3	3	3	2	3	0	4	2	3	0	4	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:113084971C>T	ENST00000393845.2	-	19	2696	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	WDR52_ENST00000295868.2_Missense_Mutation_p.G877E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	877										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GCCATCTGCTCCAGCAGTCAC	0.353													9	157					0	0	0	0	T	113084971	C	T	113084971	3	4	461	1	0	0	0	0	1	0	0	0	17400	855	30	2	3017	2	WDR52	3	113084971	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	91545	113084971	84937459	31	89632											
ZBTB20	26137	broad.mit.edu	37	chr3	114070207	114070207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgagtagatcctgtccaCgctgtgctgtgggtggctct	4	12	14	11	2	1	1	0	0	1	1	3	2	3	1	3	2	2	4	3	2	1	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:114070207C>T	ENST00000462705.1	-	11	1320	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	ZBTB20_ENST00000393785.2_Missense_Mutation_p.V167M|ZBTB20_ENST00000474710.1_Missense_Mutation_p.V240M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V167M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V167M	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	240	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ATCCTGTCCACGCTGTGCTGT	0.662													8	123					0	0	0	0	T	114070207	C	T	114070207	3	4	461	1	0	0	0	0	1	0	0	0	17624	536	19	1	1515	1	ZBTB20	3	114070207	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	985236	114070207	83952223	32	89633											
IGSF11	152404	broad.mit.edu	37	chr3	118621617	118621617	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtatgttggcattgcctGagtggaaagagaaagattgg	12	11	15	3	0	0	3	0	1	0	2	0	5	0	4	1	4	1	3	1	4	3	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:118621617G>C	ENST00000354673.2	-	9	1423	c.1043C>G	c.(1042-1044)tCa>tGa	p.S348*	IGSF11_ENST00000489689.1_Nonsense_Mutation_p.S325*|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.S348*|IGSF11_ENST00000441144.2_Nonsense_Mutation_p.S324*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.S321*|IGSF11_ENST00000393775.2_Nonsense_Mutation_p.S349*	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	349					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCATTGCCTGAGTGGAAAGA	0.478													6	198					0	0	0	0	C	118621617	G	C	118621617	4	2	461	1	0	0	0	0	0	1	0	0	7651	1294	45	2	253	2	IGSF11	3	118621617	Nonsense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	4551410	118621617	79400813	33	89634											
POLQ	10721	broad.mit.edu	37	chr3	121208192	121208192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgagattgctttcgcaGgtactggttaattggatgga	9	15	12	5	1	1	1	1	1	0	1	2	4	1	3	0	4	2	4	0	4	2	6			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:121208192G>C	ENST00000264233.5	-	16	3714	c.3586C>G	c.(3586-3588)Ctg>Gtg	p.L1196V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1196					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCTTTCGCAGGTACTGGTTA	0.348								DNA polymerases (catalytic subunits)					14	360					0	0	0	0	C	121208192	G	C	121208192	3	2	461	1	0	0	0	0	1	0	0	0	12280	991	35	4	4246	4	POLQ	3	121208192	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	2586575	121208192	76814238	34	89635											
ILDR1	286676	broad.mit.edu	37	chr3	121712219	121712219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcctgcgtcgtctcccGtgcctctgagtgctctcccg	1	11	12	17	5	3	1	0	1	3	0	6	1	3	1	4	1	4	1	4	1	0	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:121712219G>A	ENST00000273691.3	-	6	1350	c.1245C>T	c.(1243-1245)caC>caT	p.H415H	ILDR1_ENST00000393631.1_Silent_p.H370H|ILDR1_ENST00000344209.5_Silent_p.H459H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.H427H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	459						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCGTCTCCCGTGCCTCTGAG	0.687													12	33					0	0	0	0	A	121712219	G	A	121712219	2	1	461	1	0	0	0	0	0	0	0	1	7762	1136	40	1		1	ILDR1	3	121712219	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	504027	121712219	76310211	35	89636											
ARMC8	25852	broad.mit.edu	37	chr3	137940804	137940804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattggaaacaacaagcaGaaagccaatctcattgtttt	16	11	7	7	0	1	1	1	0	1	1	2	2	1	2	1	1	4	3	1	1	6	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:137940804G>A	ENST00000469044.1	+	3	430	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ARMC8_ENST00000538260.1_Silent_p.Q53Q|ARMC8_ENST00000461822.1_Silent_p.Q53Q|ARMC8_ENST00000393058.3_Silent_p.Q43Q|ARMC8_ENST00000485396.1_Silent_p.Q11Q|ARMC8_ENST00000471453.1_Silent_p.Q39Q|ARMC8_ENST00000491704.1_Silent_p.Q11Q|ARMC8_ENST00000489213.1_Silent_p.Q11Q|ARMC8_ENST00000470821.1_Silent_p.Q53Q|ARMC8_ENST00000358441.2_Silent_p.Q39Q|ARMC8_ENST00000481646.1_Silent_p.Q39Q	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	53							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACAACAAGCAGAAAGCCAATC	0.353													6	136					0	0	0	0	A	137940804	G	A	137940804	2	1	461	1	0	0	0	0	0	0	0	1	961	933	33	2		2	ARMC8	3	137940804	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	16228585	137940804	60081626	36	89637											
CCDC39	339829	broad.mit.edu	37	chr3	180334096	180334096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtgaagtatgtgaaggaGatctagagctctgacgactg	13	10	13	5	1	2	5	0	3	2	2	2	7	2	5	0	1	1	2	0	1	5	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:180334096G>C	ENST00000442201.2	-	19	2761	c.2642C>G	c.(2641-2643)tCt>tGt	p.S881C	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	881	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATGTGAAGGAGATCTAGAGCT	0.413													4	80					0	0	0	0	C	180334096	G	C	180334096	3	2	461	1	0	0	0	0	1	0	0	0	2837	942	33	2	191	2	CCDC39	3	180334096	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	42393292	180334096	17688334	37	89638											
TMEM33	55161	broad.mit.edu	37	chr4	41951378	41951378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcttacccttcgatattCgtctcgaagaaacccatatt	11	15	4	11	3	2	1	0	0	2	1	5	3	2	1	2	0	2	0	2	0	5	7			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr4:41951378C>T	ENST00000504986.1	+	6	955	c.590C>T	c.(589-591)tCg>tTg	p.S197L	TMEM33_ENST00000325094.5_Missense_Mutation_p.S197L|TMEM33_ENST00000513702.1_Missense_Mutation_p.S197L	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	197						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTTCGATATTCGTCTCGAAGA	0.313													10	83					0	0	0	0	T	41951378	C	T	41951378	3	4	461	1	0	0	0	0	1	0	0	0	16250	893	31	1	612	1	TMEM33	4	41951378	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08		41951378	149202898	38	89639											
CWH43	80157	broad.mit.edu	37	chr4	49009244	49009244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttaattatcgggctgAatatgctatttggtcctaag	10	16	10	5	1	0	2	0	2	0	0	2	2	1	2	1	2	1	3	1	2	6	6			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr4:49009244A>G	ENST00000226432.4	+	8	1270	c.1087A>G	c.(1087-1089)Aat>Gat	p.N363D	CWH43_ENST00000513409.1_Missense_Mutation_p.N336D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	363					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TATCGGGCTGAATATGCTATT	0.333													4	36					0	0	0	0	G	49009244	A	G	49009244	3	3	461	1	0	0	0	0	1	0	0	0	4105	246	9	5	1117	5	CWH43	4	49009244	Missense_Mutation	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08	7057866	49009244	142145032	39	89640											
AP1AR	55435	broad.mit.edu	37	chr4	113189405	113189405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggaagtaatcctacatCagcctctgatgattccaatg	12	11	8	10	0	2	2	1	2	1	0	4	4	4	3	3	1	2	1	3	1	4	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr4:113189405C>T	ENST00000274000.5	+	10	1104	c.749C>T	c.(748-750)tCa>tTa	p.S250L	AP1AR_ENST00000309703.6_Missense_Mutation_p.S217L	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	250					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						AATCCTACATCAGCCTCTGAT	0.403													6	90					0	0	0	0	T	113189405	C	T	113189405	3	4	461	1	0	0	0	0	1	0	0	0	731	838	29	2	787	2	AP1AR	4	113189405	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	64180161	113189405	77964871	40	89641											
ADAM29	11086	broad.mit.edu	37	chr4	175898456	175898456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggggatgaagggacctGatattggtgaagtgaaagat	13	11	15	2	0	0	5	0	4	0	1	0	7	0	7	1	4	0	0	1	4	4	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr4:175898456G>A	ENST00000359240.3	+	5	2450	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	ADAM29_ENST00000514159.1_Missense_Mutation_p.D594N|ADAM29_ENST00000404450.4_Missense_Mutation_p.D594N|ADAM29_ENST00000445694.1_Missense_Mutation_p.D594N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	594	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAAGGGACCTGATATTGGTGA	0.418													12	202					0	0	0	0	A	175898456	G	A	175898456	3	1	461	1	0	0	0	0	1	0	0	0	247	1290	45	2	1782	2	ADAM29	4	175898456	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	62709051	175898456	15255820	41	89642											
SEMA5A	9037	broad.mit.edu	37	chr5	9202132	9202132	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagtactctgcaattcGttgtagtaaaaggggacttc	14	11	10	6	1	1	1	0	0	1	1	3	2	1	2	0	2	2	5	0	2	7	6			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:9202132G>C	ENST00000382496.5	-	9	1532	c.867C>G	c.(865-867)aaC>aaG	p.N289K		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	289	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCTGCAATTCGTTGTAGTAAA	0.478													4	71					0	0	0	0	C	9202132	G	C	9202132	3	2	461	1	0	0	0	0	1	0	0	0	14124	1136	40	3	2417	3	SEMA5A	5	9202132	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		9202132	171713128	42	89643											
CTNND2	1501	broad.mit.edu	37	chr5	11117603	11117603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcgcagactggatcaCgtacagcaaggcatccgtaa	12	5	10	14	3	1	1	1	0	0	1	2	2	2	2	3	2	3	5	3	2	3	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:11117603C>T	ENST00000304623.8	-	13	2425	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	CTNND2_ENST00000503622.1_Missense_Mutation_p.V409M|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.V313M|CTNND2_ENST00000511377.1_Missense_Mutation_p.V655M|CTNND2_ENST00000359640.2_Missense_Mutation_p.V746M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	746					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACTGGATCACGTACAGCAAG	0.517													37	136					0	0	0	0	T	11117603	C	T	11117603	3	4	461	1	0	0	0	0	1	0	0	0	4052	536	19	1	1481	1	CTNND2	5	11117603	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	1915471	11117603	169797657	43	89644											
TRIO	7204	broad.mit.edu	37	chr5	14492732	14492732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgacacacgattacacGgcagtgaaggaggatgagat	13	8	14	6	2	0	3	0	3	0	1	0	7	0	5	0	4	1	1	0	4	2	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:14492732G>A	ENST00000344204.4	+	49	7713	c.7689G>A	c.(7687-7689)acG>acA	p.T2563T	TRIO_ENST00000344135.5_Silent_p.T62T|TRIO_ENST00000537187.1_Silent_p.T2387T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2563	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACGATTACACGGCAGTGAAGG	0.522													5	41					0	0	0	0	A	14492732	G	A	14492732	2	1	461	1	0	0	0	0	0	0	0	1	16647	1103	39	1		1	TRIO	5	14492732	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	3375129	14492732	166422528	44	89645											
PDZD2	23037	broad.mit.edu	37	chr5	31983706	31983706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccacaagcaatgacaaaCgccgcttctcaaaaggtggg	14	6	10	11	2	1	2	1	2	1	0	2	2	1	2	2	2	2	2	2	2	5	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:31983706C>T	ENST00000438447.1	+	3	1310	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R308C			O15018	PDZD2_HUMAN	PDZ domain containing 2	308					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAATGACAAACGCCGCTTCTC	0.493													36	88					0	0	0	0	T	31983706	C	T	31983706	3	4	461	1	0	0	0	0	1	0	0	0	11772	536	19	1	928	1	PDZD2	5	31983706	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	17490974	31983706	148931554	45	89646											
ERAP1	51752	broad.mit.edu	37	chr5	96121525	96121525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcattgttaatgagactcGcccgatcattactgctgact	10	13	8	10	2	1	2	1	2	0	1	2	4	1	2	1	0	3	3	1	0	2	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:96121525G>A	ENST00000296754.3	-	13	2167	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.A637V|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	637					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AATGAGACTCGCCCGATCATT	0.418													4	60					0	0	0	0	A	96121525	G	A	96121525	3	1	461	1	0	0	0	0	1	0	0	0	5241	1087	38	1	976	1	ERAP1	5	96121525	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	64137819	96121525	84793735	46	89647											
CHSY3	337876	broad.mit.edu	37	chr5	129521409	129521409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatccaaggcaagtactttCgcctcaaccatgcaactggc	11	8	9	13	1	1	0	1	0	0	0	3	1	2	1	3	3	4	3	3	3	5	2	rs148231534		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:129521409C>T	ENST00000305031.4	+	3	2932	c.2574C>T	c.(2572-2574)ttC>ttT	p.F858F		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	858						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAAGTACTTTCGCCTCAACCA	0.443													13	82					0	0	0	0	T	129521409	C	T	129521409	2	4	461	1	0	0	0	0	0	0	0	1	3442	883	31	1		1	CHSY3	5	129521409	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	33399884	129521409	51393851	47	89648											
SLC35A4	113829	broad.mit.edu	37	chr5	139947502	139947502	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctcctggaaggtttcTcaggatgggcagcactcgtg	7	9	14	11	1	1	0	1	0	1	0	4	2	2	2	2	5	1	3	2	5	1	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:139947502T>G	ENST00000514199.1	+	2	2434	c.748T>G	c.(748-750)Tca>Gca	p.S250A	SLC35A4_ENST00000323146.3_Missense_Mutation_p.S250A|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	250	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGGTTTCTCAGGATGGGC	0.562													8	65					0	0	0	0	G	139947502	T	G	139947502	3	3	461	1	0	0	0	0	1	0	0	0	14661	1551	54	5	750	5	SLC35A4	5	139947502	Missense_Mutation	SNP	T	TCGA-P3-A6SW-01A-11D-A34J-08	10426093	139947502	40967758	48	89649											
PCDHA13	56136	broad.mit.edu	37	chr5	140262058	140262058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttccgggtggcgtccAaaagacacggggaccttctg	7	8	14	12	3	1	1	0	0	1	1	3	2	3	2	4	4	0	1	4	4	2	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:140262058A>G	ENST00000289272.2	+	1	205	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.K69E|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGTCCAAAAGACACGG	0.627													13	198					0	0	0	0	G	140262058	A	G	140262058	3	3	461	1	0	0	0	0	1	0	0	0	11594	131	5	5	207	5	PCDHA13	5	140262058	Missense_Mutation	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08	314556	140262058	40653202	49	89650											
DBN1	1627	broad.mit.edu	37	chr5	176894605	176894605	+	Frame_Shift_Del	DEL	G	G	-																															tctatgtcttccacgctgctGgcgttcacgatcacgtcgac																										TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:176894605delG	ENST00000292385.5	-	6	969	c.360delC	c.(358-360)gcfs	p.A120fs	DBN1_ENST00000309007.5_Frame_Shift_Del_p.A118fs|DBN1_ENST00000393565.1_Frame_Shift_Del_p.A118fs	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	118	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACGCTGCTGGCGTTCACGA	0.677													2	4	---	---	---	---					-	176894605	G	-	176894605	7	5	461	1	0	1	0	1	0	0	0	0	4285	1335	47	0	1635	0	DBN1	5	176894605	Frame_Shift_Del	DEL	G	TCGA-P3-A6SW-01A-11D-A34J-08	36632547	176894605	4020655	50	89651											
RIOK1	83732	broad.mit.edu	37	chr6	7405510	7405510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaggcacagtgttgctgtCatgactgtgcgggagctctt	7	12	14	8	1	2	2	1	2	1	0	2	3	2	3	0	2	3	4	0	2	0	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:7405510C>T	ENST00000379834.2	+	12	1632	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	375	Protein kinase.		V -> I (in dbSNP:rs56067778).				ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTGTTGCTGTCATGACTGTGC	0.393													5	87					0	0	0	0	T	7405510	C	T	7405510	2	4	461	1	0	0	0	0	0	0	0	1	13462	813	29	2		2	RIOK1	6	7405510	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08		7405510	163709557	51	89652											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045649	26045649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattgcaaatggctcgtaCgaagcaaacagctcgcaagt	13	8	9	11	3	1	0	1	0	0	0	3	1	1	0	0	1	5	6	0	1	5	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:26045649C>T	ENST00000540144.1	+	1	11	c.11C>T	c.(10-12)aCg>aTg	p.T4M		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	4					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						ATGGCTCGTACGAAGCAAACA	0.507													4	121					0	0	0	0	T	26045649	C	T	26045649	3	4	461	1	0	0	0	0	1	0	0	0	7207	536	19	1	13	1	HIST1H3C	6	26045649	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	18640139	26045649	145069418	52	89653											
TRIM10	10107	broad.mit.edu	37	chr6	30126364	30126364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaacttcctcaggtgtgCgaactcagaaatcacctgtt	12	11	8	10	1	3	2	3	0	0	2	4	3	4	2	2	1	3	1	2	1	4	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:30126364C>T	ENST00000449742.2	-	3	643	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TRIM10_ENST00000376704.3_Missense_Mutation_p.A190T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	190						cytoplasm	zinc ion binding	p.A190T(1)		ovary(1)	1						CTCAGGTGTGCGAACTCAGAA	0.512													6	348					0	0	0	0	T	30126364	C	T	30126364	3	4	461	1	0	0	0	0	1	0	0	0	16581	768	27	1	985	1	TRIM10	6	30126364	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	4080715	30126364	140988703	53	89654											
BRPF3	27154	broad.mit.edu	37	chr6	36182028	36182028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagggtcctggagaatggcGaggaccatggtgtggcaggc	9	6	18	8	1	0	1	0	0	0	1	1	4	1	2	2	7	0	1	2	7	1	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:36182028G>A	ENST00000357641.6	+	8	3107	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.E952K|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	952					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGAGAATGGCGAGGACCATGG	0.602													9	79					0	0	0	0	A	36182028	G	A	36182028	3	1	461	1	0	0	0	0	1	0	0	0	1529	1059	37	1	2880	1	BRPF3	6	36182028	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	6055664	36182028	134933039	54	89655											
ZNF318	24149	broad.mit.edu	37	chr6	43305922	43305922	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctttctctcttgagtttGagacttctgtacctagaagt	8	17	8	8	0	4	3	0	2	4	2	5	5	4	3	1	0	1	2	1	0	3	6			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:43305922G>C	ENST00000361428.2	-	10	5891	c.5814C>G	c.(5812-5814)ctC>ctG	p.L1938L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1938					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTTGAGTTTGAGACTTCTGT	0.438													9	185					0	0	0	0	C	43305922	G	C	43305922	2	2	461	1	0	0	0	0	0	0	0	1	17931	1277	45	2		2	ZNF318	6	43305922	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	7123894	43305922	127809145	55	89656											
CRISP2	7180	broad.mit.edu	37	chr6	49660582	49660582	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcaaggaatcacagttActtaggagatcttgatactg	12	14	8	7	0	4	2	2	1	2	1	4	4	4	3	0	2	2	1	0	2	5	6			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:49660582A>C	ENST00000339139.4	-	10	872	c.636T>G	c.(634-636)agT>agG	p.S212R		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	212						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AATCACAGTTACTTAGGAGAT	0.363													9	93					0	0	0	0	C	49660582	A	C	49660582	3	2	461	1	0	0	0	0	1	0	0	0	3910	388	14	5	99	5	CRISP2	6	49660582	Missense_Mutation	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08	6354660	49660582	121454485	56	89657											
CRISP1	167	broad.mit.edu	37	chr6	49814367	49814367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgtcatatgcatattttCtccacaaaaggtatctgaaa	15	13	6	7	0	3	2	1	1	2	1	4	2	3	2	1	1	1	2	1	1	6	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:49814367C>G	ENST00000335847.4	-	5	402	c.301G>C	c.(301-303)Gaa>Caa	p.E101Q	CRISP1_ENST00000536021.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000507853.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000505118.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000355791.2_Missense_Mutation_p.E101Q|CRISP1_ENST00000329411.5_Missense_Mutation_p.E101Q	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	101					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TGCATATTTTCTCCACAAAAG	0.363													15	76					0	0	0	0	G	49814367	C	G	49814367	3	3	461	1	0	0	0	0	1	0	0	0	3909	922	32	2	464	2	CRISP1	6	49814367	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	153785	49814367	121300700	57	89658											
PKHD1	5314	broad.mit.edu	37	chr6	51524139	51524139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatctcgtgaataaacctGatttggttttggccaatctg	9	14	10	8	1	2	2	0	2	2	0	3	2	2	2	2	3	1	2	2	3	4	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:51524139G>C	ENST00000371117.3	-	61	11060	c.10785C>G	c.(10783-10785)atC>atG	p.I3595M		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3595					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAATAAACCTGATTTGGTTTT	0.428													7	153					0	0	0	0	C	51524139	G	C	51524139	3	2	461	1	0	0	0	0	1	0	0	0	12043	1280	45	2	1467	2	PKHD1	6	51524139	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	1709772	51524139	119590928	58	89659											
SYNE1	23345	broad.mit.edu	37	chr6	152675908	152675908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctacttgctgaaacttttgCtccattagcctcaatttgtt	8	18	5	10	0	2	1	1	1	1	0	3	1	3	1	2	0	5	3	2	0	4	7			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:152675908C>T	ENST00000367255.5	-	67	11413	c.10812G>A	c.(10810-10812)gaG>gaA	p.E3604E	SYNE1_ENST00000448038.1_Silent_p.E3611E|SYNE1_ENST00000265368.4_Silent_p.E3604E|SYNE1_ENST00000341594.5_Silent_p.E3575E|SYNE1_ENST00000423061.1_Silent_p.E3611E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3604					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAACTTTTGCTCCATTAGCC	0.478										HNSCC(10;0.0054)			10	97					0	0	0	0	T	152675908	C	T	152675908	2	4	461	1	0	0	0	0	0	0	0	1	15536	796	28	4		4	SYNE1	6	152675908	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	101151769	152675908	18439159	59	89660											
GJC3	349149	broad.mit.edu	37	chr7	99527091	99527091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgctgggtgtgacacacGaattcactctgctcatcacc	8	10	10	13	1	4	1	3	1	1	0	4	2	4	1	1	2	2	3	1	2	1	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:99527091G>A	ENST00000312891.2	-	1	152	c.153C>T	c.(151-153)ttC>ttT	p.F51F	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	51						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGTGACACACGAATTCACTCT	0.637													7	87					0	0	0	0	A	99527091	G	A	99527091	2	1	461	1	0	0	0	0	0	0	0	1	6467	1049	37	1		1	GJC3	7	99527091	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		99527091	59611572	60	89661											
PIK3CG	5294	broad.mit.edu	37	chr7	106509636	106509636	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccggaaggggaccgggttCgagcagaaatgcccaaccag	12	3	14	12	3	0	1	0	0	0	1	1	4	0	3	4	4	3	2	4	4	3	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:106509636C>T	ENST00000359195.3	+	2	1940	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544*	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	544					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			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						GGACCGGGTTCGAGCAGAAAT	0.542													13	61					0	0	0	0	T	106509636	C	T	106509636	4	4	461	1	0	0	0	0	0	1	0	0	11988	876	31	1	1632	1	PIK3CG	7	106509636	Nonsense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	6982545	106509636	52629027	61	89662											
LRRN3	54674	broad.mit.edu	37	chr7	110763381	110763381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatcaacagtaagtggtttGatgctcttccaaatctagag	12	13	9	7	0	3	3	1	2	2	1	4	3	4	3	1	1	2	3	1	1	4	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:110763381G>A	ENST00000451085.1	+	4	1599	c.553G>A	c.(553-555)Gat>Aat	p.D185N	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D185N|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D185N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	185						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAAGTGGTTTGATGCTCTTCC	0.378													8	90					0	0	0	0	A	110763381	G	A	110763381	3	1	461	1	0	0	0	0	1	0	0	0	9100	1290	45	2	555	2	LRRN3	7	110763381	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	4253745	110763381	48375282	62	89663											
CAPZA2	830	broad.mit.edu	37	chr7	116546361	116546361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaaccattattgcatgCatagaaagccatcagttcca	15	9	6	11	0	1	1	1	0	0	1	2	1	2	1	3	0	5	4	3	0	4	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:116546361C>T	ENST00000361183.2	+	6	610	c.471C>T	c.(469-471)tgC>tgT	p.C157C	CAPZA2_ENST00000458284.2_Intron	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	157					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TTATTGCATGCATAGAAAGCC	0.338													11	79					0	0	0	0	T	116546361	C	T	116546361	2	4	461	1	0	0	0	0	0	0	0	1	2666	718	25	4		4	CAPZA2	7	116546361	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	5782980	116546361	42592302	63	89664											
UBN2	254048	broad.mit.edu	37	chr7	138957170	138957170	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggactgccaggctcgtagtCaagctaagtgtgccaagtat	11	9	12	9	1	1	0	1	0	0	0	2	1	1	1	2	2	3	4	2	2	5	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:138957170C>T	ENST00000288561.8	+	9	1699	c.1450C>T	c.(1450-1452)Caa>Taa	p.Q484*	UBN2_ENST00000473989.2_Nonsense_Mutation_p.Q567*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	567										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGCTCGTAGTCAAGCTAAGTG	0.393													9	157					0	0	0	0	T	138957170	C	T	138957170	4	4	461	1	0	0	0	0	0	1	0	0	16989	827	29	2	1733	2	UBN2	7	138957170	Nonsense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	22410809	138957170	20181493	64	89665											
GIMAP4	55303	broad.mit.edu	37	chr7	150269411	150269411	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacagaacttgtcgtagttGacacaccaggcattttcgac	13	10	8	10	2	0	2	0	1	0	1	2	3	0	2	1	1	2	3	1	1	3	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:150269411G>C	ENST00000255945.2	+	3	428	c.253G>C	c.(253-255)Gac>Cac	p.D85H	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.D99H	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	85							GTP binding			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)		TGTCGTAGTTGACACACCAGG	0.498													3	54					0	0	0	0	C	150269411	G	C	150269411	3	2	461	1	0	0	0	0	1	0	0	0	6432	1290	45	2	259	2	GIMAP4	7	150269411	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	11312241	150269411	8869252	65	89666											
PXDNL	137902	broad.mit.edu	37	chr8	52387662	52387662	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctcccccagccacatCagatcacagtcacaaaccag	16	4	5	16	0	3	1	3	0	0	1	4	1	4	1	4	0	3	1	4	0	3	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:52387662C>A	ENST00000356297.4	-	7	664	c.564G>T	c.(562-564)ctG>ctT	p.L188L	PXDNL_ENST00000543296.1_Silent_p.L188L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	188	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.L188L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCAGCCACATCAGATCACAGT	0.517													4	34					0.000602214	0.000610879	1	0	A	52387662	C	A	52387662	2	1	461	1	0	0	0	0	0	0	0	1	12930	813	29	2		2	PXDNL	8	52387662	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08		52387662	93976360	66	89667											
SULF1	23213	broad.mit.edu	37	chr8	70514051	70514051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattcgtggtccaagtgtaGaaccaggatcaatgtacgta	12	12	10	7	2	1	1	1	0	0	1	3	2	2	2	2	2	2	3	2	2	7	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:70514051G>A	ENST00000260128.4	+	10	1765	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	SULF1_ENST00000458141.2_Missense_Mutation_p.E350K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E350K|SULF1_ENST00000419716.3_Missense_Mutation_p.E350K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	350					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCCAAGTGTAGAACCAGGATC	0.408													15	169					0	0	0	0	A	70514051	G	A	70514051	3	1	461	1	0	0	0	0	1	0	0	0	15460	943	33	2	1070	2	SULF1	8	70514051	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	18126389	70514051	75849971	67	89668											
TSPYL5	85453	broad.mit.edu	37	chr8	98289558	98289558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggtattctcccctgccGcccctttcttctgcctccca	3	12	6	20	2	3	0	0	0	3	0	5	1	4	0	8	1	2	1	8	1	1	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:98289558G>A	ENST00000322128.3	-	1	618	c.515C>T	c.(514-516)gCg>gTg	p.A172V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	172					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CTCCCCTGCCGCCCCTTTCTT	0.652													6	101					0	0	0	0	A	98289558	G	A	98289558	3	1	461	1	0	0	0	0	1	0	0	0	16757	1087	38	1	742	1	TSPYL5	8	98289558	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	27775507	98289558	48074464	68	89669											
VPS13B	157680	broad.mit.edu	37	chr8	100523442	100523442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttaacatcaagaaatgaGcgaagaagttttcataagtt	18	11	8	4	1	2	3	2	1	0	2	2	4	2	3	0	0	2	3	0	0	7	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:100523442G>A	ENST00000358544.2	+	29	4521	c.4410G>A	c.(4408-4410)gaG>gaA	p.E1470E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E1445E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1470					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAGAAATGAGCGAAGAAGTT	0.373													21	104					0	0	0	0	A	100523442	G	A	100523442	2	1	461	1	0	0	0	0	0	0	0	1	17286	962	34	4		4	VPS13B	8	100523442	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	2233884	100523442	45840580	69	89670											
FAM135B	51059	broad.mit.edu	37	chr8	139380215	139380215	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaactcaaccgttccttgTatttcagacatgatcttttt	11	16	5	9	1	3	2	2	1	1	1	4	3	4	2	2	0	2	2	2	0	4	6			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:139380215T>C	ENST00000395297.1	-	2	182	c.12A>G	c.(10-12)atA>atG	p.I4M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	4										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)			CCGTTCCTTGTATTTCAGACA	0.368										HNSCC(54;0.14)			8	75					0	0	0	0	C	139380215	T	C	139380215	3	2	461	1	0	0	0	0	1	0	0	0	5490	1628	57	5	4284	5	FAM135B	8	139380215	Missense_Mutation	SNP	T	TCGA-P3-A6SW-01A-11D-A34J-08	38856773	139380215	6983807	70	89671											
PTPRD	5789	broad.mit.edu	37	chr9	8341854	8341854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtattggtcttctgtttgaaCcatatagttcctctgggctc	6	17	9	9	0	3	1	0	1	3	0	5	1	4	1	2	2	1	4	2	2	4	7			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:8341854C>A	ENST00000381196.4	-	37	5329	c.4786G>T	c.(4786-4788)Gtt>Ttt	p.V1596F	PTPRD_ENST00000360074.4_Missense_Mutation_p.V1583F|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1189F|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1186F|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1574F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1596F|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1186F|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1190F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1596F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1596	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGTTTGAACCATATAGTTC	0.378										TSP Lung(15;0.13)			19	292					0.0383953	0.0383953	1	0	A	8341854	C	A	8341854	3	1	461	1	0	0	0	0	1	0	0	0	12881	507	18	4	980	4	PTPRD	9	8341854	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08		8341854	132871577	71	89672											
FREM1	158326	broad.mit.edu	37	chr9	14813014	14813014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctgagcaattcatgacagGcatgaggtcagcctttaaga	12	10	10	9	0	3	4	2	3	1	1	3	4	3	4	1	2	2	2	1	2	2	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:14813014G>A	ENST00000380881.4	-	17	3507	c.2692C>T	c.(2692-2694)Cct>Tct	p.P898S	FREM1_ENST00000422223.2_Missense_Mutation_p.P897S|FREM1_ENST00000380880.3_Missense_Mutation_p.P897S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	897					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCATGACAGGCATGAGGTCA	0.413													15	112					0	0	0	0	A	14813014	G	A	14813014	3	1	461	1	0	0	0	0	1	0	0	0	6092	1203	42	4	3988	4	FREM1	9	14813014	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	6471160	14813014	126400417	72	89673											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL								5	113					0	0	0	0	A	20414313	G	A	20414313	2	1	461	1	0	0	0	0	0	0	0	1	9697	1310	46	4		4	MLLT3	9	20414313	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	5601299	20414313	120799118	73	89674											
TAF1L	138474	broad.mit.edu	37	chr9	32630547	32630547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacagaggcatctcgagaCgtactgagggatgtgttggt	11	10	14	6	2	1	3	0	1	1	2	2	5	1	4	0	3	2	3	0	3	3	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:32630547C>T	ENST00000242310.4	-	1	5120	c.5031G>A	c.(5029-5031)acG>acA	p.T1677T		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1677					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTCGAGACGTACTGAGGG	0.488													18	197					0	0	0	0	T	32630547	C	T	32630547	2	4	461	1	0	0	0	0	0	0	0	1	15614	523	19	1		1	TAF1L	9	32630547	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	12216234	32630547	108582884	74	89675											
PALM2	114299	broad.mit.edu	37	chr9	112705583	112705583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcggctgagcttgtgtccGggaggccggtctcagacacc	6	7	15	13	4	1	2	1	1	1	1	3	3	2	3	3	4	1	2	3	4	0	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:112705583G>A	ENST00000448454.2	+	8	1120	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R	PALM2_ENST00000314527.4_Missense_Mutation_p.G372R|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.G340R|PALM2_ENST00000483909.1_Missense_Mutation_p.G338R|PALM2-AKAP2_ENST00000374530.3_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GCTTGTGTCCGGGAGGCCGGT	0.547													7	91					0	0	0	0	A	112705583	G	A	112705583	3	1	461	1	0	0	0	0	1	0	0	0	11480	1116	39	1	1150	1	PALM2	9	112705583	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	80075036	112705583	28507848	75	89676											
ANKRD16	54522	broad.mit.edu	37	chr10	5925970	5925970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctagcgacgtcgatgtGcccacactggattgcgtcca	8	8	11	14	4	0	0	0	0	0	0	2	3	1	1	3	1	4	0	3	1	1	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr10:5925970G>A	ENST00000380094.5	-	4	1192	c.649C>T	c.(649-651)Cac>Tac	p.H217Y	ANKRD16_ENST00000191063.8_Missense_Mutation_p.H217Y|ANKRD16_ENST00000380092.4_Missense_Mutation_p.H217Y	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	217										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						ACGTCGATGTGCCCACACTGG	0.463													6	48					0	0	0	0	A	5925970	G	A	5925970	3	1	461	1	0	0	0	0	1	0	0	0	645	1319	46	4	452	4	ANKRD16	10	5925970	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		5925970	129608777	76	89677											
NDUFB8	4714	broad.mit.edu	37	chr10	102289582	102289582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagccactggactccCaagaccccggccctggccac	7	6	9	19	1	0	1	0	0	0	1	1	2	1	2	6	3	2	1	6	3	1	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr10:102289582C>G	ENST00000557395.1	-	1	56	c.27G>C	c.(25-27)ttG>ttC	p.L9F	NDUFB8_ENST00000299166.4_Missense_Mutation_p.L9F|NDUFB8_ENST00000370320.4_Missense_Mutation_p.L9F|SEC31B_ENST00000535773.1_5'UTR|NDUFB8_ENST00000370322.1_Intron|NDUFB8_ENST00000531258.1_Missense_Mutation_p.L9F			O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	9					mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	NADH(DB00157)	ACTGGACTCCCAAGACCCCGG	0.652													3	29					0	0	0	0	G	102289582	C	G	102289582	3	3	461	1	0	0	0	0	1	0	0	0	10357	593	21	4	553	4	NDUFB8	10	102289582	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	96363612	102289582	33245165	77	89678											
MMP21	118856	broad.mit.edu	37	chr10	127458964	127458964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaaaggcatctatgttGtgtgttgggattccaggcca	10	12	12	7	0	1	1	0	1	1	0	2	2	2	2	2	3	1	3	2	3	3	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr10:127458964G>T	ENST00000368808.3	-	5	1175	c.1176C>A	c.(1174-1176)caC>caA	p.H392Q		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	392					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CATCTATGTTGTGTGTTGGGA	0.418													11	114					1.61879e-10	1.69074e-10	1	0	T	127458964	G	T	127458964	3	4	461	1	0	0	0	0	1	0	0	0	9729	1368	48	4	545	4	MMP21	10	127458964	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	25169382	127458964	8075783	78	89679											
STK33	65975	broad.mit.edu	37	chr11	8457627	8457627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaatgtagttctccttttCttattaactcaaaaagcttc	13	16	3	9	0	3	0	1	0	2	0	5	0	3	0	1	0	2	3	1	0	7	7			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr11:8457627C>T	ENST00000447869.1	-	9	1925	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	STK33_ENST00000358872.3_Missense_Mutation_p.R149K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.R336K|STK33_ENST00000534493.1_Missense_Mutation_p.R295K|STK33_ENST00000396672.1_Missense_Mutation_p.R336K|STK33_ENST00000396673.1_Missense_Mutation_p.R336K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	336	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTCTCCTTTTCTTATTAACTC	0.318													9	110					0	0	0	0	T	8457627	C	T	8457627	3	4	461	1	0	0	0	0	1	0	0	0	15390	913	32	2	553	2	STK33	11	8457627	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08		8457627	126548889	79	89680											
OR8J3	81168	broad.mit.edu	37	chr11	55904917	55904917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtggcacattcatagaatGaggtagttttcttctttact	9	16	10	6	0	3	2	1	1	2	1	3	2	3	2	0	3	1	3	0	3	4	8			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr11:55904917G>A	ENST00000301529.1	-	1	277	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTCATAGAATGAGGTAGTTTT	0.418													9	145					0	0	0	0	A	55904917	G	A	55904917	3	1	461	1	0	0	0	0	1	0	0	0	11313	1294	45	2	671	2	OR8J3	11	55904917	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	47447290	55904917	79101599	80	89681											
GRIA4	2893	broad.mit.edu	37	chr11	105845108	105845108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttggcggcttgggcttGgcaatgctggtggctttgat	3	14	17	7	1	0	1	0	1	0	0	0	1	0	1	0	7	1	6	0	7	1	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr11:105845108G>C	ENST00000393127.2	+	16	2927	c.2481G>C	c.(2479-2481)ttG>ttC	p.L827F	GRIA4_ENST00000525187.1_Missense_Mutation_p.L827F|GRIA4_ENST00000530497.1_Missense_Mutation_p.L827F|GRIA4_ENST00000282499.5_Missense_Mutation_p.L827F|GRIA4_ENST00000533094.1_3'UTR	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	827					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GCTTGGGCTTGGCAATGCTGG	0.498													12	76					0	0	0	0	C	105845108	G	C	105845108	3	2	461	1	0	0	0	0	1	0	0	0	6820	1339	47	4	2695	4	GRIA4	11	105845108	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	49940191	105845108	29161408	81	89682											
TAS2R31	259290	broad.mit.edu	37	chr12	11183305	11183305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagatcctttaccatggagCtgcatcttcttgagatgttt	8	16	9	8	0	2	2	0	2	2	2	3	5	3	3	2	1	3	3	2	1	1	5	rs149012476	by1000genomes	TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr12:11183305C>G	ENST00000390675.2	-	1	701	c.630G>C	c.(628-630)caG>caC	p.Q210H	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	210					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TACCATGGAGCTGCATCTTCT	0.428													4	215					0	0	0	0	G	11183305	C	G	11183305	3	3	461	1	0	0	0	0	1	0	0	0	15665	796	28	4	303	4	TAS2R31	12	11183305	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08		11183305	122668590	82	89683											
SLCO1A2	6579	broad.mit.edu	37	chr12	21450358	21450358	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattagaaagattgcatctGaagatgatattccatattgc	14	13	7	7	0	1	5	0	2	1	3	2	5	2	5	2	0	2	1	2	0	5	6			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr12:21450358G>T	ENST00000307378.6	-	10	1775	c.1055C>A	c.(1054-1056)tCa>tAa	p.S352*	SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.S220*|SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.S352*|SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.S220*|SLCO1A2_ENST00000390670.3_Nonsense_Mutation_p.S350*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	352					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GATTGCATCTGAAGATGATAT	0.403													4	47					0.00024832	0.000253718	1	0	T	21450358	G	T	21450358	4	4	461	1	0	0	0	0	0	1	0	0	14810	1294	45	2	985	2	SLCO1A2	12	21450358	Nonsense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	10267053	21450358	112401537	83	89684											
ARID2	196528	broad.mit.edu	37	chr12	46123887	46123887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggatcttcacggtctctaCaccagagtcactactttagg	9	12	8	12	1	4	1	2	0	2	1	5	2	4	2	1	3	2	0	1	3	3	5			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr12:46123887C>T	ENST00000334344.6	+	2	325	c.153C>T	c.(151-153)taC>taT	p.Y51Y	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	51	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACGGTCTCTACACCAGAGTCA	0.532			"N, S, F"		hepatocellular carcinoma								10	73					0	0	0	0	T	46123887	C	T	46123887	2	4	461	1	0	0	0	0	0	0	0	1	917	489	17	4		4	ARID2	12	46123887	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	24673529	46123887	87728008	84	89685											
RCBTB2	1102	broad.mit.edu	37	chr13	49073886	49073886	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttccaatgacgaacgaaAatgctcacatctgaaggaaa	17	8	7	9	2	3	2	1	2	2	0	4	5	4	3	1	1	2	1	1	1	6	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr13:49073886A>G	ENST00000344532.3	-	13	1678	c.1255T>C	c.(1255-1257)Ttt>Ctt	p.F419L	RCBTB2_ENST00000544492.1_Missense_Mutation_p.F145L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.F424L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	419	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GACGAACGAAAATGCTCACAT	0.458													12	67					0	0	0	0	G	49073886	A	G	49073886	3	3	461	1	0	0	0	0	1	0	0	0	13254	14	1	5	412	5	RCBTB2	13	49073886	Missense_Mutation	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08		49073886	66095992	85	89686											
SLITRK5	26050	broad.mit.edu	37	chr13	88329213	88329213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggccatgccctcaggcGtcttctctggcttgaccctc	4	11	10	16	1	3	1	1	1	2	0	5	1	3	1	3	3	2	2	3	3	0	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr13:88329213G>A	ENST00000325089.6	+	2	1789	c.1570G>A	c.(1570-1572)Gtc>Atc	p.V524I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V283I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	524						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCTCAGGCGTCTTCTCTGG	0.527													9	98					0	0	0	0	A	88329213	G	A	88329213	3	1	461	1	0	0	0	0	1	0	0	0	14834	1145	40	1	1572	1	SLITRK5	13	88329213	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	39255327	88329213	26840665	86	89687											
SLC7A8	23428	broad.mit.edu	37	chr14	23635568	23635568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcctccgaagatgtcCttgacataggagtagtcacc	10	9	10	12	1	1	2	1	1	0	1	4	4	4	3	5	1	0	1	5	1	3	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:23635568C>G	ENST00000316902.7	-	2	1058	c.333G>C	c.(331-333)aaG>aaC	p.K111N	SLC7A8_ENST00000469263.1_Missense_Mutation_p.K111N	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	111					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CGAAGATGTCCTTGACATAGG	0.512													12	104					0	0	0	0	G	23635568	C	G	23635568	3	3	461	1	0	0	0	0	1	0	0	0	14792	680	24	4	1314	4	SLC7A8	14	23635568	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08		23635568	83713972	87	89688											
MYH6	4624	broad.mit.edu	37	chr14	23874017	23874017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttcacagtcttccccGccccggattctcccctgggg	3	11	11	16	2	3	0	1	0	2	0	5	1	4	1	6	4	0	1	6	4	0	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:23874017G>A	ENST00000405093.3	-	7	615	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MYH6_ENST00000356287.3_Missense_Mutation_p.A182V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	182	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGTCTTCCCCGCCCCGGATTC	0.552													10	69					0	0	0	0	A	23874017	G	A	23874017	3	1	461	1	0	0	0	0	1	0	0	0	10108	1087	38	1	5406	1	MYH6	14	23874017	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	238449	23874017	83475523	88	89689											
DCAF5	8816	broad.mit.edu	37	chr14	69522198	69522198	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactggttggcgtagtcaTgcgacaggccactcccactg	7	8	12	14	3	1	0	1	0	0	0	2	2	2	0	3	3	1	2	3	3	1	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:69522198T>A	ENST00000341516.5	-	9	1352	c.1205A>T	c.(1204-1206)cAt>cTt	p.H402L	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.H401L|DCAF5_ENST00000556847.1_Missense_Mutation_p.H320L|DCAF5_ENST00000554215.1_Missense_Mutation_p.H320L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	402						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGCGTAGTCATGCGACAGGCC	0.577													33	154					0	0	0	0	A	69522198	T	A	69522198	3	1	461	1	0	0	0	0	1	0	0	0	4306	1464	51	5	1627	5	DCAF5	14	69522198	Missense_Mutation	SNP	T	TCGA-P3-A6SW-01A-11D-A34J-08	45648181	69522198	37827342	89	89690											
SLC8A3	6547	broad.mit.edu	37	chr14	70634946	70634946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagggaagggttctccGggtaccagattggcaggatg	9	7	15	10	1	1	1	0	0	1	1	2	3	1	3	4	5	1	3	4	5	3	3	rs141504535		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:70634946G>A	ENST00000381269.2	-	2	947	c.194C>T	c.(193-195)cCg>cTg	p.P65L	SLC8A3_ENST00000356921.2_Missense_Mutation_p.P65L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P65L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P65L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P65L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	65					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGGTTCTCCGGGTACCAGAT	0.552													9	39					0	0	0	0	A	70634946	G	A	70634946	3	1	461	1	0	0	0	0	1	0	0	0	14796	1116	39	1	2728	1	SLC8A3	14	70634946	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	1112748	70634946	36714594	90	89691											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42133427	42133427	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgggggctctttccAgggctgaccgtggcgagtgg	3	9	19	10	2	2	1	0	1	2	0	3	2	3	1	2	6	0	3	2	6	0	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:42133427A>G	ENST00000382448.4	+	11	1094		c.e11-1		JMJD7-PLA2G4B_ENST00000458483.1_Splice_Site|PLA2G4B_ENST00000452633.1_Splice_Site|JMJD7-PLA2G4B_ENST00000342159.4_Splice_Site	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN							arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GGCTCTTTCCAGGGCTGACCG	0.657													5	132					0	0	0	0	G	42133427	A	G	42133427	5	3	461	1	0	0	0	0	0	0	1	0	8008	202	7	5	1126	5	JMJD7-PLA2G4B	15	42133427	Splice_Site	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08		42133427	60397965	91	89692											
DMXL2	23312	broad.mit.edu	37	chr15	51773096	51773096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttatagagttgaaatctGagttttcctccatctacttc	10	16	6	9	0	2	3	0	2	2	1	5	3	4	3	2	0	1	3	2	0	4	7			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:51773096G>A	ENST00000251076.5	-	24	6494	c.6207C>T	c.(6205-6207)ctC>ctT	p.L2069L	DMXL2_ENST00000543779.2_Silent_p.L2069L|DMXL2_ENST00000449909.3_Silent_p.L1433L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2069						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTGAAATCTGAGTTTTCCTC	0.333													15	122					0	0	0	0	A	51773096	G	A	51773096	2	1	461	1	0	0	0	0	0	0	0	1	4632	1277	45	2		2	DMXL2	15	51773096	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	9639669	51773096	50758296	92	89693											
KLHL25	64410	broad.mit.edu	37	chr15	86312316	86312316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctgcaggcagtcggaCggcagcaaggccagacgcac	9	3	14	15	3	0	1	0	0	0	1	2	2	1	2	3	4	2	5	3	4	1	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:86312316C>T	ENST00000337975.5	-	2	1000	c.726G>A	c.(724-726)ccG>ccA	p.P242P	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.P242P	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	242						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGCAGTCGGACGGCAGCAAGG	0.652													5	30					0	0	0	0	T	86312316	C	T	86312316	2	4	461	1	0	0	0	0	0	0	0	1	8432	523	19	1		1	KLHL25	15	86312316	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	34539220	86312316	16219076	93	89694											
POLG	5428	broad.mit.edu	37	chr15	89867078	89867078	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctggcactgcagctcGcaagttctccatcttggcct	6	12	9	14	1	2	1	0	1	2	0	4	1	2	1	3	2	2	5	3	2	1	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:89867078G>A	ENST00000268124.5	-	12	2458	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	POLG_ENST00000442287.2_Nonsense_Mutation_p.R709*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	709					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			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)			ACTGCAGCTCGCAAGTTCTCC	0.572								DNA polymerases (catalytic subunits)					7	37					0	0	0	0	A	89867078	G	A	89867078	4	1	461	1	0	0	0	0	0	1	0	0	12272	1095	38	1	1642	1	POLG	15	89867078	Nonsense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	3554762	89867078	12664314	94	89695											
VPS33B	26276	broad.mit.edu	37	chr15	91557626	91557626	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactcactggcaatgtatcGcatattcttgatgcggggtc	9	12	10	10	2	2	1	1	1	1	0	4	1	2	1	0	3	1	3	0	3	3	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:91557626G>A	ENST00000333371.3	-	4	630	c.277C>T	c.(277-279)Cga>Tga	p.R93*	VPS33B_ENST00000535843.1_Nonsense_Mutation_p.R2*|VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Nonsense_Mutation_p.R66*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	93					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCAATGTATCGCATATTCTTG	0.418													19	257					0	0	0	0	A	91557626	G	A	91557626	4	1	461	1	0	0	0	0	0	1	0	0	17298	1095	38	1	1656	1	VPS33B	15	91557626	Nonsense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	1690548	91557626	10973766	95	89696											
NTHL1	4913	broad.mit.edu	37	chr16	2096334	2096334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtctctgtgctttccgcGgacgcttcacggggctgtgg	3	11	15	12	4	2	0	1	0	1	0	4	1	3	1	1	4	1	4	1	4	0	2	rs139165943	byFrequency	TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr16:2096334G>A	ENST00000219066.1	-	2	191	c.173C>T	c.(172-174)cCg>cTg	p.P58L		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	58					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						TGCTTTCCGCGGACGCTTCAC	0.632								Base excision repair (BER), DNA glycosylases					14	66					0	0	0	0	A	2096334	G	A	2096334	3	1	461	1	0	0	0	0	1	0	0	0	10769	1116	39	1	785	1	NTHL1	16	2096334	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		2096334	88258419	96	89697											
TUFM	7284	broad.mit.edu	37	chr16	28854443	28854443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaagattaggttgaacttCaggtcctccccgggcatggc	8	9	12	12	2	1	2	1	1	0	1	3	2	3	2	3	4	1	3	3	4	3	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr16:28854443C>T	ENST00000313511.3	-	10	1359	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	404						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GGTTGAACTTCAGGTCCTCCC	0.537													8	66					0	0	0	0	T	28854443	C	T	28854443	2	4	461	1	0	0	0	0	0	0	0	1	16867	813	29	2		2	TUFM	16	28854443	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	26758109	28854443	61500310	97	89698											
ZFP90	146198	broad.mit.edu	37	chr16	68598113	68598113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagaggatccatactgcaGagaacccctatgattgtgag	13	9	10	9	0	1	4	1	2	0	2	2	6	2	5	3	1	3	1	3	1	3	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr16:68598113G>C	ENST00000570495.1	+	5	1715	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	ZFP90_ENST00000563169.2_Missense_Mutation_p.E475Q|ZFP90_ENST00000398253.2_Missense_Mutation_p.E475Q|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	475					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCATACTGCAGAGAACCCCTA	0.418													10	140					0	0	0	0	C	68598113	G	C	68598113	3	2	461	1	0	0	0	0	1	0	0	0	17749	943	33	2	1437	2	ZFP90	16	68598113	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	39743670	68598113	21756640	98	89699											
ZZEF1	23140	broad.mit.edu	37	chr17	3920783	3920783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgtggctaggccactcgGcgagcagggatgcaagcacg	9	4	16	12	4	0	0	0	0	0	0	1	2	0	1	1	4	3	5	1	4	2	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:3920783G>A	ENST00000381638.2	-	48	8007	c.7883C>T	c.(7882-7884)gCc>gTc	p.A2628V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2628							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGCCACTCGGCGAGCAGGGA	0.582													4	38					0	0	0	0	A	3920783	G	A	3920783	3	1	461	1	0	0	0	0	1	0	0	0	18346	1203	42	4	1034	4	ZZEF1	17	3920783	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		3920783	77274427	99	89700											
RAI1	10743	broad.mit.edu	37	chr17	17697666	17697666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaaggtgtcaagaacctCgtgtccaggaccccagagca	14	5	11	11	1	1	3	1	0	0	3	3	4	2	4	4	2	2	1	4	2	4	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:17697666C>T	ENST00000353383.1	+	3	1873	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L	RAI1_ENST00000261641.6_Silent_p.L468L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	468						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCAAGAACCTCGTGTCCAGGA	0.627													5	64					0	0	0	0	T	17697666	C	T	17697666	2	4	461	1	0	0	0	0	0	0	0	1	13089	871	31	1		1	RAI1	17	17697666	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	13776883	17697666	63497544	100	89701											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799296	20799296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccggcttcggagaccccCcagcccctccccgcttttct	3	9	8	21	3	1	1	0	0	1	1	3	2	2	1	8	2	2	2	8	2	0	3	rs148155806	byFrequency	TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:20799296C>T	ENST00000327925.5	-	1	157	c.38G>A	c.(37-39)gGg>gAg	p.G13E	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	13										large_intestine(3)|lung(3)|skin(1)	7						CGGAGACCCCCCAGCCCCTCC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	0	0	T	20799296	C	T	20799296	3	4	461	1	0	0	0	0	1	0	0	0	2804	623	22	4	643	4	CCDC144NL	17	20799296	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	3101630	20799296	60395914	101	89702											
SLFN13	146857	broad.mit.edu	37	chr17	33771680	33771680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccattcctcagttgtcaaGgggcggatgtacttctccct	7	12	9	13	1	3	0	2	0	1	0	5	1	4	1	3	3	1	2	3	3	2	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:33771680G>A	ENST00000285013.6	-	3	1295	c.1020C>T	c.(1018-1020)ccC>ccT	p.P340P	SLFN13_ENST00000534689.1_Silent_p.P22P|SLFN13_ENST00000526861.1_Silent_p.P340P|SLFN13_ENST00000360502.2_Silent_p.P22P|SLFN13_ENST00000533791.1_Silent_p.P340P|SLFN13_ENST00000542635.1_Silent_p.P340P	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	340						intracellular	ATP binding			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)		CAGTTGTCAAGGGGCGGATGT	0.488													8	102					0	0	0	0	A	33771680	G	A	33771680	2	1	461	1	0	0	0	0	0	0	0	1	14824	987	35	4		4	SLFN13	17	33771680	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	12972384	33771680	47423530	102	89703											
COIL	8161	broad.mit.edu	37	chr17	55027263	55027263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttacctggataatagtaGatgaattttttaccacgtca	13	15	6	7	1	1	2	1	1	0	1	1	3	1	3	2	1	3	1	2	1	7	8			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:55027263G>C	ENST00000240316.4	-	2	1374	c.1340C>G	c.(1339-1341)tCt>tGt	p.S447C		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	447	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GATAATAGTAGATGAATTTTT	0.408													15	90					0	0	0	0	C	55027263	G	C	55027263	3	2	461	1	0	0	0	0	1	0	0	0	3695	942	33	2	414	2	COIL	17	55027263	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	21255583	55027263	26167947	103	89704											
CACNG4	27092	broad.mit.edu	37	chr17	64961156	64961156	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgcacatctgcaacggCaccaacctgaccatggacga	12	4	10	15	4	1	1	0	1	1	0	1	3	1	2	3	2	4	3	3	2	2	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:64961156C>T	ENST00000262138.3	+	1	131	c.129C>T	c.(127-129)ggC>ggT	p.G43G		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	43					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCTGCAACGGCACCAACCTGA	0.692													3	10					0	0	0	0	T	64961156	C	T	64961156	2	4	461	1	0	0	0	0	0	0	0	1	2584	697	25	4		4	CACNG4	17	64961156	Silent	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	9933893	64961156	16234054	104	89705											
STK11	6794	broad.mit.edu	37	chr19	1218445	1218445	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactgaggaggttacggcAcaaaaatgtcatccagctgg	13	8	11	9	1	1	1	1	1	0	0	2	2	2	2	1	4	3	3	1	4	4	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:1218445A>T	ENST00000326873.7	+	2	1493	c.320A>T	c.(319-321)cAc>cTc	p.H107L	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	107	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.H107R(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTTACGGCACAAAAATGTC	0.547		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			19	192					0	0	0	0	T	1218445	A	T	1218445	3	4	461	1	0	0	0	0	1	0	0	0	15377	159	6	5	326	5	STK11	19	1218445	Missense_Mutation	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08		1218445	57910538	105	89706											
ZNF440	126070	broad.mit.edu	37	chr19	11943646	11943646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcaatgacggaaagccttCagatctgccccacacctttg	11	8	9	13	1	2	2	1	1	1	1	2	4	2	3	4	1	3	1	4	1	2	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:11943646C>T	ENST00000304060.5	+	4	1819	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAAAGCCTTCAGATCTGCCC	0.493													10	61					0	0	0	0	T	11943646	C	T	11943646	3	4	461	1	0	0	0	0	1	0	0	0	18008	838	29	2	1669	2	ZNF440	19	11943646	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	10725201	11943646	47185337	106	89707											
RFX1	5989	broad.mit.edu	37	chr19	14076339	14076339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctcttggcaaagttccgGatcgcttgggtcaaggcacc	8	9	13	11	2	2	0	1	0	1	0	4	1	3	1	2	5	0	5	2	5	2	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:14076339G>A	ENST00000254325.4	-	16	2367	c.2133C>T	c.(2131-2133)atC>atT	p.I711I		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	711					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CAAAGTTCCGGATCGCTTGGG	0.662													10	93					0	0	0	0	A	14076339	G	A	14076339	2	1	461	1	0	0	0	0	0	0	0	1	13344	1164	41	2		2	RFX1	19	14076339	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	2132693	14076339	45052644	107	89708											
CD97	976	broad.mit.edu	37	chr19	14501807	14501807	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctggaacacagaggggAgctacgactgcgtgtgcagc	10	6	15	10	2	0	1	0	0	0	1	0	4	0	3	0	3	7	3	0	3	2	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:14501807A>T	ENST00000242786.5	+	4	342	c.262A>T	c.(262-264)Agc>Tgc	p.S88C	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Missense_Mutation_p.S88C|CD97_ENST00000357355.3_Missense_Mutation_p.S88C	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	88	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CACAGAGGGGAGCTACGACTG	0.527													9	69					0	0	0	0	T	14501807	A	T	14501807	3	4	461	1	0	0	0	0	1	0	0	0	3078	304	11	5	276	5	CD97	19	14501807	Missense_Mutation	SNP	A	TCGA-P3-A6SW-01A-11D-A34J-08	425468	14501807	44627176	108	89709											
KIAA1683	80726	broad.mit.edu	37	chr19	18368439	18368439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcaggactggaagcagcGatggtcagatactgtcctgg	9	8	15	9	1	1	1	1	0	0	1	2	4	2	3	1	5	3	2	1	5	2	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:18368439G>A	ENST00000392413.3	-	4	3870	c.3655C>T	c.(3655-3657)Cgc>Tgc	p.R1219C	KIAA1683_ENST00000600328.2_Missense_Mutation_p.R1032C|KIAA1683_ENST00000600359.2_Missense_Mutation_p.R986C	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGAAGCAGCGATGGTCAGAT	0.662													12	49					0	0	0	0	A	18368439	G	A	18368439	3	1	461	1	0	0	0	0	1	0	0	0	8302	1058	37	1	452	1	KIAA1683	19	18368439	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	3866632	18368439	40760544	109	89710											
C19orf40	91442	broad.mit.edu	37	chr19	33464993	33464993	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttaaaggaattgtagtcGttgaaaaaacccggatgagt	15	11	10	5	2	1	2	0	2	1	0	2	4	1	4	1	2	1	2	1	2	7	4			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:33464993G>A	ENST00000589646.1	+	0	291				C19orf40_ENST00000588258.1_Missense_Mutation_p.V91I|C19orf40_ENST00000590179.1_De_novo_Start_OutOfFrame|C19orf40_ENST00000590281.1_Missense_Mutation_p.V91I			Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40						DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AATTGTAGTCGTTGAAAAAAC	0.418								Direct reversal of damage					7	85					0	0	0	0	A	33464993	G	A	33464993	1	1	461	1	0	0	0	0	0	0	0	0	1941	1145	40	1		1	C19orf40	19	33464993	Translation_Start_Site	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	15096554	33464993	25663990	110	89711											
SAMD4B	55095	broad.mit.edu	37	chr19	39870669	39870669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtgctgaagctcctcCggacattcccgcgcaaagcc	10	6	10	15	3	0	1	0	1	0	0	3	2	3	2	4	1	4	4	4	1	3	1			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:39870669C>T	ENST00000314471.6	+	12	2629	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	SAMD4B_ENST00000598913.1_Missense_Mutation_p.R532W|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	532							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAAGCTCCTCCGGACATTCCC	0.582													4	18					0	0	0	0	T	39870669	C	T	39870669	3	4	461	1	0	0	0	0	1	0	0	0	13907	643	23	1	1624	1	SAMD4B	19	39870669	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	6405676	39870669	19258314	111	89712											
JOSD2	126119	broad.mit.edu	37	chr19	51010853	51010853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgtcccaccacacggCggccaggcccagcccctgca	6	4	9	22	2	0	0	0	0	0	0	2	0	2	0	8	3	2	1	8	3	0	0			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:51010853C>T	ENST00000598418.1	-	3	503	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	JOSD2_ENST00000391815.3_Missense_Mutation_p.A84T|JOSD2_ENST00000601423.1_Missense_Mutation_p.A84T|JOSD2_ENST00000595669.1_Intron	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	84	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CACCACACGGCGGCCAGGCCC	0.667													8	139					0	0	0	0	T	51010853	C	T	51010853	3	4	461	1	0	0	0	0	1	0	0	0	8012	768	27	1	328	1	JOSD2	19	51010853	Missense_Mutation	SNP	C	TCGA-P3-A6SW-01A-11D-A34J-08	11140184	51010853	8118130	112	89713											
ZNF470	388566	broad.mit.edu	37	chr19	57086066	57086066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaagagaaagacccttggGtgataaaaggagggatgaac	17	5	14	5	0	0	4	0	2	0	2	0	7	0	6	1	3	2	1	1	3	5	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:57086066G>T	ENST00000330619.8	+	5	933	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	ZNF470_ENST00000391709.3_Missense_Mutation_p.V83L|ZNF470_ENST00000601902.1_Missense_Mutation_p.V83L	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGACCCTTGGGTGATAAAAGG	0.428													4	45					0.0215528	0.0217067	1	0	T	57086066	G	T	57086066	3	4	461	1	0	0	0	0	1	0	0	0	18024	1261	44	4	257	4	ZNF470	19	57086066	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	6075213	57086066	2042917	113	89714											
LAMA5	3911	broad.mit.edu	37	chr20	60895805	60895805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagtacctgcaggtcaGcgatggaggcgttcagcctg	7	8	14	12	3	3	0	3	0	0	0	3	2	3	1	2	3	4	4	2	3	1	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr20:60895805G>A	ENST00000252999.3	-	49	6704	c.6638C>T	c.(6637-6639)gCt>gTt	p.A2213V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2213	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCAGGTCAGCGATGGAGGC	0.687													5	22					0	0	0	0	A	60895805	G	A	60895805	3	1	461	1	0	0	0	0	1	0	0	0	8662	971	34	4	4577	4	LAMA5	20	60895805	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		60895805	2129715	114	89715											
RSPH1	89765	broad.mit.edu	37	chr21	43912900	43912900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatctggatatataaaaGtgccttgaccgtgcttttta	11	15	7	8	1	1	1	0	1	1	0	2	2	2	2	3	1	2	1	3	1	5	7			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr21:43912900G>A	ENST00000291536.3	-	3	409	c.242C>T	c.(241-243)aCt>aTt	p.T81I	RSPH1_ENST00000398352.3_Missense_Mutation_p.T43I	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	81					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ATATATAAAAGTGCCTTGACC	0.323													6	128					0	0	0	0	A	43912900	G	A	43912900	3	1	461	1	0	0	0	0	1	0	0	0	13787	1029	36	4	715	4	RSPH1	21	43912900	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08		43912900	4216995	115	89716											
SYTL5	94122	broad.mit.edu	37	chrX	37955445	37955445	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagactcagaggatacTgtaagcataagaagcaagtc	18	6	10	7	0	1	4	1	0	0	4	2	5	1	5	0	1	3	3	0	1	6	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chrX:37955445T>A	ENST00000357972.5	+	9	1566	c.1020T>A	c.(1018-1020)acT>acA	p.T340T	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.T340T|SYTL5_ENST00000456733.2_Silent_p.T340T			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	340					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CAGAGGATACTGTAAGCATAA	0.418													30	49					0	0	0	0	A	37955445	T	A	37955445	2	1	461	1	0	0	0	0	0	0	0	1	15577	1567	55	5		5	SYTL5	23	37955445	Silent	SNP	T	TCGA-P3-A6SW-01A-11D-A34J-08		37955445	117315115	116	89717											
F9	2158	broad.mit.edu	37	chrX	138643737	138643737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaaagcgaaatgtgattcGaattattcctcaccacaact	15	10	6	10	2	1	1	1	1	0	0	3	3	2	1	2	0	2	1	2	0	6	3			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chrX:138643737G>A	ENST00000218099.2	+	8	900	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	F9_ENST00000394090.2_Missense_Mutation_p.R260Q	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	298	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AATGTGATTCGAATTATTCCT	0.353													11	37					0	0	0	0	A	138643737	G	A	138643737	3	1	461	1	0	0	0	0	1	0	0	0	5392	1058	37	1	923	1	F9	23	138643737	Missense_Mutation	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	100688292	138643737	16626823	117	89718											
SOX3	6658	broad.mit.edu	37	chrX	139586659	139586659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaagtcgcttggcctcgtcGatgaatggtcgcttctcggc	5	11	13	12	6	1	1	0	1	1	0	6	3	1	1	1	3	0	2	1	3	2	2			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chrX:139586659G>A	ENST00000370536.2	-	1	566	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	189					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TGGCCTCGTCGATGAATGGTC	0.567													9	38					0	0	0	0	A	139586659	G	A	139586659	2	1	461	1	0	0	0	0	0	0	0	1	15039	1048	37	1		1	SOX3	23	139586659	Silent	SNP	G	TCGA-P3-A6SW-01A-11D-A34J-08	942922	139586659	15683901	118	89719											
MRTO4	51154	broad.mit.edu	37	chr1	19581327	19581327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaattgaaacaaaacctgaTagaagaggtaagaggttgtt	17	9	12	3	0	0	5	0	2	0	3	0	6	0	6	1	3	2	3	1	3	7	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:19581327T>G	ENST00000330263.4	+	2	377	c.80T>G	c.(79-81)aTa>aGa	p.I27R	MRTO4_ENST00000493700.1_3'UTR	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	27					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAACCTGATAGAAGAGGTA	0.403													36	77					0	0	0	0	G	19581327	T	G	19581327	3	3	462	1	0	0	0	0	1	0	0	0	9922	1406	49	5	86	5	MRTO4	1	19581327	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08		19581327	229669294	1	89720											
MAP3K6	9064	broad.mit.edu	37	chr1	27688596	27688596	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctaccatatgggggcattGagcttatacagctgctctgc	9	11	10	11	0	1	1	0	1	1	0	1	1	1	1	2	2	6	4	2	2	4	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:27688596G>C	ENST00000493901.1	-	10	1640	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	MAP3K6_ENST00000357582.2_Silent_p.L467L|MAP3K6_ENST00000374040.3_Silent_p.L459L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	467					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGCATTGAGCTTATACA	0.567													4	32					0	0	0	0	C	27688596	G	C	27688596	2	2	462	1	0	0	0	0	0	0	0	1	9323	1277	45	2		2	MAP3K6	1	27688596	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	8107269	27688596	221562025	2	89721											
CSMD2	114784	broad.mit.edu	37	chr1	34083115	34083115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacctggagggcatatcccGgctcacactggaaagacacc	11	6	11	13	1	1	1	1	0	0	1	2	3	2	3	3	4	1	3	3	4	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:34083115G>A	ENST00000373381.4	-	38	6106	c.5930C>T	c.(5929-5931)cCg>cTg	p.P1977L	CSMD2_ENST00000373380.1_Missense_Mutation_p.P850L|CSMD2_ENST00000373388.2_Missense_Mutation_p.P76L|CSMD2_ENST00000373377.1_Missense_Mutation_p.P76L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1937	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCATATCCCGGCTCACACTG	0.582													11	25					0	0	0	0	A	34083115	G	A	34083115	3	1	462	1	0	0	0	0	1	0	0	0	3977	1116	39	1	4781	1	CSMD2	1	34083115	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	6394519	34083115	215167506	3	89722											
C1orf94	84970	broad.mit.edu	37	chr1	34666508	34666508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcatcactgaccctgcCgcccaagaaacctacatgtc	11	6	6	18	2	1	2	1	1	0	1	2	2	1	2	5	0	3	1	5	0	3	1	rs115878225	by1000genomes	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:34666508C>A	ENST00000488417.1	+	3	1265	c.1145C>A	c.(1144-1146)cCg>cAg	p.P382Q	C1orf94_ENST00000373374.3_Missense_Mutation_p.P192Q	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	192							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTGACCCTGCCGCCCAAGAAA	0.592													17	34					5.03518e-11	5.71561e-11	1	0	A	34666508	C	A	34666508	3	1	462	1	0	0	0	0	1	0	0	0	2091	652	23	3	1155	3	C1orf94	1	34666508	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	583393	34666508	214584113	4	89723											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948897	37948897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccatgggtgctggccaCttcagtgtccctgccgacta	5	9	13	14	2	1	0	1	0	0	0	2	1	2	0	4	3	2	1	4	3	1	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:37948897C>T	ENST00000373087.6	+	6	1601	c.1485C>T	c.(1483-1485)caC>caT	p.H495H		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	495	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGCTGGCCACTTCAGTGTCC	0.647													63	99					0	0	0	0	T	37948897	C	T	37948897	2	4	462	1	0	0	0	0	0	0	0	1	17656	564	20	4		4	ZC3H12A	1	37948897	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	3282389	37948897	211301724	5	89724											
HHLA3	11147	broad.mit.edu	37	chr1	70832204	70832204	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaagaaagaatttgaggCgaatccatagagtaaggtaa	17	9	11	4	1	0	4	0	1	0	3	1	5	1	4	1	2	1	3	1	2	7	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:70832204C>T	ENST00000370940.5	+	2	354	c.238C>T	c.(238-240)Cga>Tga	p.R80*	HHLA3_ENST00000359875.5_Missense_Mutation_p.A112V|HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000361764.4_3'UTR	NM_001031693.2|NM_001036646.1	NP_001026863.1|NP_001031723.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	0							protein binding			large_intestine(3)|lung(1)	4						gaatttgaggcgaatccatag	0.413													3	10					0	0	0	0	T	70832204	C	T	70832204	4	4	462	1	0	0	0	0	0	1	0	0	7146	769	27	1	341	1	HHLA3	1	70832204	Nonsense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	32883307	70832204	178418417	6	89725											
VCAM1	7412	broad.mit.edu	37	chr1	101194828	101194828	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgaggagtgaggggaccaAttccacgctgaccctgagcc	9	6	15	11	1	0	4	0	4	0	0	1	6	1	6	4	4	1	1	4	4	1	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:101194828A>C	ENST00000294728.2	+	5	1195	c.1094A>C	c.(1093-1095)aAt>aCt	p.N365T	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.N303T|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	365	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAGGGGACCAATTCCACGCTG	0.507													61	117					0	0	0	0	C	101194828	A	C	101194828	3	2	462	1	0	0	0	0	1	0	0	0	17233	101	4	5	1112	5	VCAM1	1	101194828	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	30362624	101194828	148055793	7	89726											
COL11A1	1301	broad.mit.edu	37	chr1	103377765	103377765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcaccagatgggccaggagGaccctataaaatgtgaaaaa	16	6	10	9	0	1	2	1	1	0	1	1	4	1	4	3	3	0	0	3	3	5	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:103377765G>T	ENST00000358392.2	-	54	4389	c.4072C>A	c.(4072-4074)Cct>Act	p.P1358T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1230T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1307T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1346T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1346	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGCCAGGAGGACCCTATAAA	0.388													6	10					0.000157383	0.000164567	1	0	T	103377765	G	T	103377765	3	4	462	1	0	0	0	0	1	0	0	0	3697	1174	41	2	1440	2	COL11A1	1	103377765	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	2182937	103377765	145872856	8	89727											
PTGFRN	5738	broad.mit.edu	37	chr1	117503966	117503966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggacacgaagagtggggagGcgaatgtccgattcacggtt	10	8	16	7	4	1	1	1	0	0	1	2	6	2	3	1	5	0	1	1	5	2	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:117503966G>T	ENST00000393203.2	+	5	1462	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	439	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GAGTGGGGAGGCGAATGTCCG	0.597													25	90					1.64293e-13	1.89917e-13	1	0	T	117503966	G	T	117503966	3	4	462	1	0	0	0	0	1	0	0	0	12830	1203	42	4	1333	4	PTGFRN	1	117503966	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	14126201	117503966	131746655	9	89728											
NOTCH2	4853	broad.mit.edu	37	chr1	120510760	120510760	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagccttgtgggcaggTgcaaatatattgcccattta	9	15	10	7	0	0	0	0	0	0	0	0	0	0	0	2	2	3	3	2	2	5	8			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:120510760T>G	ENST00000256646.2	-	7	1423	c.1204A>C	c.(1204-1206)Acc>Ccc	p.T402P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	402	EGF-like 10.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGGGCAGGTGCAAATATAT	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013734	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	72					0	0	0	0	G	120510760	T	G	120510760	3	3	462	1	0	0	0	0	1	0	0	0	10618	1696	59	5	6323	5	NOTCH2	1	120510760	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	3006794	120510760	128739861	10	89729											
POGZ	23126	broad.mit.edu	37	chr1	151380618	151380618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgagaacagcaggtgctaTagcgacacagagagcagtgt	13	6	13	9	2	0	2	0	0	0	2	1	5	0	2	0	1	5	3	0	1	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:151380618T>C	ENST00000271715.2	-	15	2647	c.2333A>G	c.(2332-2334)tAt>tGt	p.Y778C	POGZ_ENST00000392723.1_Missense_Mutation_p.Y725C|POGZ_ENST00000368863.2_Missense_Mutation_p.Y683C|POGZ_ENST00000540984.1_Missense_Mutation_p.Y140C|POGZ_ENST00000361398.3_Missense_Mutation_p.Y725C|POGZ_ENST00000531094.1_Missense_Mutation_p.Y716C|POGZ_ENST00000409503.1_Missense_Mutation_p.Y769C|POGZ_ENST00000491586.1_Missense_Mutation_p.Y734C	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	778					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			GCAGGTGCTATAGCGACACAG	0.458													56	51					0	0	0	0	C	151380618	T	C	151380618	3	2	462	1	0	0	0	0	1	0	0	0	12258	1406	49	5	1919	5	POGZ	1	151380618	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	30869858	151380618	97870003	11	89730											
FLG	2312	broad.mit.edu	37	chr1	152283569	152283569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaacactggatccctggtGcctgcttgtcctggaccccg	5	10	11	15	1	0	0	0	0	0	0	2	2	2	2	5	3	3	2	5	3	1	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:152283569G>T	ENST00000368799.1	-	3	3828	c.3793C>A	c.(3793-3795)Cac>Aac	p.H1265N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCCTGGTGCCTGCTTGTC	0.557									Ichthyosis				115	292					1.06059e-47	1.34984e-47	1	0	T	152283569	G	T	152283569	3	4	462	1	0	0	0	0	1	0	0	0	5967	1319	46	4	8396	4	FLG	1	152283569	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	902951	152283569	96967052	12	89731											
CD1E	913	broad.mit.edu	37	chr1	158326619	158326619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacatcagttctgcttggCacaagtatcgtggatcaaaa	14	10	9	8	1	3	1	2	0	1	1	4	2	3	2	0	2	1	4	0	2	5	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:158326619C>T	ENST00000444681.2	+	5	1096	c.803C>T	c.(802-804)gCa>gTa	p.A268V	CD1E_ENST00000368156.1_Missense_Mutation_p.A265V|CD1E_ENST00000368157.1_Missense_Mutation_p.A111V|CD1E_ENST00000368166.3_Missense_Mutation_p.A166V|CD1E_ENST00000368165.3_Missense_Mutation_p.A277V|CD1E_ENST00000368163.3_Missense_Mutation_p.A300V|CD1E_ENST00000368155.3_Missense_Mutation_p.A210V|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368167.3_Missense_Mutation_p.A367V|CD1E_ENST00000368160.3_Missense_Mutation_p.A355V|CD1E_ENST00000452291.2_Missense_Mutation_p.A178V|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368154.1_Missense_Mutation_p.A123V	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	367	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTCTGCTTGGCACAAGTATCG	0.428													17	94					0	0	0	0	T	158326619	C	T	158326619	3	4	462	1	0	0	0	0	1	0	0	0	3007	710	25	4	1122	4	CD1E	1	158326619	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	6043050	158326619	90924002	13	89732											
CEP350	9857	broad.mit.edu	37	chr1	179985006	179985006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaccagggtatcagccatCtggagaatctgacaaagaaa	17	6	9	9	0	3	3	1	1	2	2	3	4	3	3	2	2	2	1	2	2	5	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:179985006C>G	ENST00000367607.3	+	11	2493	c.2075C>G	c.(2074-2076)tCt>tGt	p.S692C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	692						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATCAGCCATCTGGAGAATCT	0.428													10	24					0	0	0	0	G	179985006	C	G	179985006	3	3	462	1	0	0	0	0	1	0	0	0	3283	913	32	2	2113	2	CEP350	1	179985006	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	21658387	179985006	69265615	14	89733											
DUSP10	11221	broad.mit.edu	37	chr1	221912532	221912532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctccttggatgtgactCttgttgtactccatgaaggg	8	13	11	9	0	1	2	0	2	1	0	3	3	3	3	2	2	2	3	2	2	2	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:221912532C>A	ENST00000366899.3	-	2	793	c.555G>T	c.(553-555)aaG>aaT	p.K185N	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	185	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGATGTGACTCTTGTTGTACT	0.512													47	31					1.30916e-28	1.63321e-28	1	0	A	221912532	C	A	221912532	3	1	462	1	0	0	0	0	1	0	0	0	4846	912	32	2	905	2	DUSP10	1	221912532	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	41927526	221912532	27338089	15	89734											
RYR2	6262	broad.mit.edu	37	chr1	237880645	237880645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaccaggagctcattgctCtggccaaaaatcgatttagc	11	9	11	10	1	2	0	1	0	1	0	3	3	2	2	2	3	3	2	2	3	3	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:237880645C>G	ENST00000366574.2	+	72	10788	c.10471C>G	c.(10471-10473)Ctg>Gtg	p.L3491V	RYR2_ENST00000542537.1_Missense_Mutation_p.L3475V|RYR2_ENST00000360064.6_Missense_Mutation_p.L3489V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3491					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCATTGCTCTGGCCAAAAA	0.498													18	16					0	0	0	0	G	237880645	C	G	237880645	3	3	462	1	0	0	0	0	1	0	0	0	13854	912	32	2	10757	2	RYR2	1	237880645	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	15968113	237880645	11369976	16	89735											
GREM2	64388	broad.mit.edu	37	chr1	240656667	240656667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagttgttgctgctgcCgtccttgtaaggcgagggga	5	11	15	10	3	0	0	0	0	0	0	2	3	2	1	3	3	3	5	3	3	1	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:240656667C>T	ENST00000318160.4	-	2	375	c.109G>A	c.(109-111)Ggc>Agc	p.G37S		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	37					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TTGCTGCTGCCGTCCTTGTAA	0.642													19	23					0	0	0	0	T	240656667	C	T	240656667	3	4	462	1	0	0	0	0	1	0	0	0	6812	652	23	1	401	1	GREM2	1	240656667	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	2776022	240656667	8593954	17	89736											
GPR113	165082	broad.mit.edu	37	chr2	26534825	26534825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgggcacaggctgcatgCcagggtctccacagccagca	8	6	13	14	0	1	0	0	0	1	0	2	0	1	0	3	3	4	4	3	3	0	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:26534825C>G	ENST00000333478.6	-	8	1756	c.1174G>C	c.(1174-1176)Gca>Cca	p.A392P	GPR113_ENST00000421160.2_Missense_Mutation_p.A522P|GPR113_ENST00000311519.1_Missense_Mutation_p.A591P|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.A194P	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	591					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCTGCATGCCAGGGTCTCC	0.612													19	50					0	0	0	0	G	26534825	C	G	26534825	3	3	462	1	0	0	0	0	1	0	0	0	6679	739	26	4	1569	4	GPR113	2	26534825	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		26534825	216664548	18	89737											
ZFP36L2	678	broad.mit.edu	37	chr2	43452233	43452234	+	Frame_Shift_Ins	INS	-	-	CA																															gtgcaacgcatcgcgcgtgcINScaaaggcacgcaggtccccg																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:43452233_43452234insCA	ENST00000282388.3	-	2	1002_1003	c.709_710insTG	c.(709-711)cacfs	p.H237fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	237					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ATCGCGCGTGCCAAAGGCACGC	0.733													5	10	---	---	---	---					CA	43452234	-	CA	43452233	7	5	462	1	0	1	1	0	0	0	0	0	17742	739	26	0	778	0	ZFP36L2	2	43452233	Frame_Shift_Ins	INS	-	TCGA-P3-A6SX-01A-11D-A34J-08	16917408	43452233	199747140	19	89738											
PEX13	5194	broad.mit.edu	37	chr2	61259091	61259091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctctgagaatgaagacctCtgggcagagagtgaaggaac	13	6	15	7	0	2	5	0	3	2	3	2	8	2	6	1	3	1	2	1	3	4	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:61259091C>T	ENST00000295030.4	+	2	668	c.630C>T	c.(628-630)ctC>ctT	p.L210L		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	210	Targeting to peroxisomes.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ATGAAGACCTCTGGGCAGAGA	0.463													27	65					0	0	0	0	T	61259091	C	T	61259091	2	4	462	1	0	0	0	0	0	0	0	1	11813	900	32	2		2	PEX13	2	61259091	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	17806858	61259091	181940282	20	89739											
XPO1	7514	broad.mit.edu	37	chr2	61726874	61726874	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaaatgcttagatttgacTtgggttatctgtccactaga	10	17	8	6	0	1	3	0	1	1	2	2	3	2	3	1	1	1	2	1	1	5	7			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:61726874T>A	ENST00000401558.2	-	7	1291	c.564A>T	c.(562-564)caA>caT	p.Q188H	XPO1_ENST00000406957.1_Missense_Mutation_p.Q188H|XPO1_ENST00000404992.2_Missense_Mutation_p.Q188H	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	188	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TAGATTTGACTTGGGTTATCT	0.318			Mis		CLL								34	67					0	0	0	0	A	61726874	T	A	61726874	3	1	462	1	0	0	0	0	1	0	0	0	17541	1606	56	5	2727	5	XPO1	2	61726874	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	467783	61726874	181472499	21	89740											
MTHFD2	10797	broad.mit.edu	37	chr2	74441341	74441341	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagcgagaagtgctgaagtCtaaagagcttggggtagcca	13	7	15	6	1	1	4	0	1	1	3	1	5	1	4	1	2	4	3	1	2	5	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:74441341C>G	ENST00000394053.2	+	8	1105	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.S259C|MTHFD2_ENST00000409804.1_Missense_Mutation_p.S214C|MTHFD2_ENST00000394050.3_Missense_Mutation_p.S178C|MTHFD2_ENST00000264090.4_Missense_Mutation_p.S240C	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	342					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GTGCTGAAGTCTAAAGAGCTT	0.473													28	64					0	0	0	0	G	74441341	C	G	74441341	3	3	462	1	0	0	0	0	1	0	0	0	9999	913	32	2	1055	2	MTHFD2	2	74441341	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	12714467	74441341	168758032	22	89741											
CTNNA2	1496	broad.mit.edu	37	chr2	80620362	80620362	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaaaaaggagatccTctcaacattgcgattgataa	18	8	9	6	1	1	3	1	1	1	2	3	6	2	4	1	2	2	0	1	2	5	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:80620362T>C	ENST00000466387.1	+	12	1807	c.1083T>C	c.(1081-1083)ccT>ccC	p.P361P	CTNNA2_ENST00000361291.4_Silent_p.P395P|CTNNA2_ENST00000541047.1_Silent_p.P361P|CTNNA2_ENST00000402739.4_Silent_p.P361P|CTNNA2_ENST00000540488.1_Silent_p.P361P|CTNNA2_ENST00000496558.1_Silent_p.P361P|CTNNA2_ENST00000343114.3_Silent_p.P40P			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	361					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGGAGATCCTCTCAACATTG	0.289													23	136					0	0	0	0	C	80620362	T	C	80620362	2	2	462	1	0	0	0	0	0	0	0	1	4045	1538	54	5		5	CTNNA2	2	80620362	Silent	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	6179021	80620362	162579011	23	89742											
CTNNA2	1496	broad.mit.edu	37	chr2	80620407	80620407	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actaagaaaacaagagatctAaggagacaggtactattttt	18	10	8	5	0	1	3	0	0	1	3	1	5	1	3	0	2	2	1	0	2	7	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:80620407A>C	ENST00000466387.1	+	12	1852	c.1128A>C	c.(1126-1128)ctA>ctC	p.L376L	CTNNA2_ENST00000361291.4_Silent_p.L410L|CTNNA2_ENST00000541047.1_Silent_p.L376L|CTNNA2_ENST00000402739.4_Silent_p.L376L|CTNNA2_ENST00000540488.1_Silent_p.L376L|CTNNA2_ENST00000496558.1_Silent_p.L376L|CTNNA2_ENST00000343114.3_Silent_p.L55L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	376					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGAGATCTAAGGAGACAGG	0.333													23	127					0	0	0	0	C	80620407	A	C	80620407	2	2	462	1	0	0	0	0	0	0	0	1	4045	349	13	5		5	CTNNA2	2	80620407	Silent	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	45	80620407	162578966	24	89743											
INPP4A	3631	broad.mit.edu	37	chr2	99155443	99155443	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacactttgctgaaatcGggtaaacagcttcctccttt	11	12	8	10	1	0	1	0	1	0	0	3	2	2	2	2	2	3	3	2	2	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:99155443G>A	ENST00000074304.5	+	9	1062	c.670_splice	c.e9+1	p.S223_splice	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Splice_Site_p.S223_splice|INPP4A_ENST00000523221.1_Splice_Site_p.S223_splice|INPP4A_ENST00000409540.3_Splice_Site_p.S223_splice|INPP4A_ENST00000409851.3_Splice_Site_p.S223_splice|INPP4A_ENST00000545415.1_Splice_Site_p.S223_splice	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	223					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCTGAAATCGGGTAAACAGC	0.507													5	20					0	0	0	0	A	99155443	G	A	99155443	5	1	462	1	0	0	0	0	0	0	1	0	7805	1130	39	1	695	1	INPP4A	2	99155443	Splice_Site	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	18535036	99155443	144043930	25	89744											
EIF5B	9669	broad.mit.edu	37	chr2	99976938	99976938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttttctagtgaagatgatAtcctgaaagaactggaagaa	15	11	9	6	0	1	6	0	3	1	3	2	7	2	7	2	1	1	0	2	1	7	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:99976938A>G	ENST00000289371.5	+	3	374	c.172A>G	c.(172-174)Atc>Gtc	p.I58V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	58					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAAGATGATATCCTGAAAGA	0.333													5	43					0	0	0	0	G	99976938	A	G	99976938	3	3	462	1	0	0	0	0	1	0	0	0	5082	449	16	5	182	5	EIF5B	2	99976938	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	821495	99976938	143222435	26	89745											
SCTR	6344	broad.mit.edu	37	chr2	120221754	120221754	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagcacggcgtccttgAtgaagttggacagggcacga	12	6	15	8	3	0	4	0	2	0	2	1	6	1	5	1	3	1	3	1	3	2	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:120221754A>C	ENST00000019103.5	-	6	848	c.581T>G	c.(580-582)aTc>aGc	p.I194S		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	194					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGCGTCCTTGATGAAGTTGGA	0.577													23	51					0	0	0	0	C	120221754	A	C	120221754	3	2	462	1	0	0	0	0	1	0	0	0	14030	333	12	5	773	5	SCTR	2	120221754	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	20244816	120221754	122977619	27	89746											
CLASP1	23332	broad.mit.edu	37	chr2	122144728	122144728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacccccatgggaacagttgGtgggtgaggtcagggggctg	7	7	19	8	0	1	1	1	1	0	0	1	3	1	2	2	6	1	2	2	6	1	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:122144728G>A	ENST00000263710.4	-	32	3733	c.3344C>T	c.(3343-3345)aCc>aTc	p.T1115I	CLASP1_ENST00000545861.1_Missense_Mutation_p.T861I|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1094I|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1093I|CLASP1_ENST00000541859.1_Missense_Mutation_p.T871I|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1110I|CLASP1_ENST00000409078.3_Missense_Mutation_p.T1087I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1115					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGAACAGTTGGTGGGTGAGGT	0.527													14	20					0	0	0	0	A	122144728	G	A	122144728	3	1	462	1	0	0	0	0	1	0	0	0	3484	1261	44	4	1308	4	CLASP1	2	122144728	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	1922974	122144728	121054645	28	89747											
ARHGAP15	55843	broad.mit.edu	37	chr2	144276846	144276846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcagatcaaatttttGgctctcatctgcacaaagtg	10	15	7	9	0	3	1	2	0	2	1	4	1	3	1	0	1	2	3	0	1	2	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:144276846G>A	ENST00000295095.6	+	10	1005	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	280					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCAAATTTTTGGCTCTCATCT	0.388													26	63					0	0	0	0	A	144276846	G	A	144276846	3	1	462	1	0	0	0	0	1	0	0	0	868	1348	47	4	872	4	ARHGAP15	2	144276846	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	22132118	144276846	98922527	29	89748											
DPP4	1803	broad.mit.edu	37	chr2	162851518	162851518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccagggctttggagatctGagctgactgctgaaagtgaa	11	9	14	7	0	1	5	0	4	1	1	1	7	1	5	1	2	2	3	1	2	2	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:162851518G>C	ENST00000360534.3	-	25	2712	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	718					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTGGAGATCTGAGCTGACTGC	0.483													11	53					0	0	0	0	C	162851518	G	C	162851518	3	2	462	1	0	0	0	0	1	0	0	0	4765	1299	45	2	156	2	DPP4	2	162851518	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	18574672	162851518	80347855	30	89749											
XIRP2	129446	broad.mit.edu	37	chr2	168105241	168105241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcccccaaagttgaactgGcaacctccctgtcagatatg	10	11	7	13	0	1	2	1	1	0	1	3	2	3	2	4	1	2	2	4	1	4	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:168105241G>A	ENST00000409195.1	+	9	7428	c.7339G>A	c.(7339-7341)Gca>Aca	p.A2447T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2225T|XIRP2_ENST00000295237.9_Missense_Mutation_p.A2447T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2272					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTTGAACTGGCAACCTCCCT	0.423													17	92					0	0	0	0	A	168105241	G	A	168105241	3	1	462	1	0	0	0	0	1	0	0	0	17526	1203	42	4	7369	4	XIRP2	2	168105241	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	5253723	168105241	75094132	31	89750											
TTN	7273	broad.mit.edu	37	chr2	179641980	179641980	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttcatttcaagtcgggaAccttcctttatattgacatt	10	17	5	9	1	2	1	2	1	0	0	4	2	3	2	2	1	1	0	2	1	4	8			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:179641980A>G	ENST00000589042.1	-	27	4934	c.4710T>C	c.(4708-4710)ggT>ggC	p.G1570G	TTN_ENST00000342175.6_Silent_p.G1524G|TTN_ENST00000460472.2_Silent_p.G1524G|TTN_ENST00000342992.6_Silent_p.G1570G|TTN_ENST00000591111.1_Silent_p.G1570G|TTN_ENST00000359218.5_Silent_p.G1524G|TTN_ENST00000360870.5_Silent_p.G1570G|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1305	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTCGGGAACCTTCCTTTA	0.393													7	105					0	0	0	0	G	179641980	A	G	179641980	2	3	462	1	0	0	0	0	0	0	0	1	16831	30	2	5		5	TTN	2	179641980	Silent	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	11536739	179641980	63557393	32	89751											
CCDC141	285025	broad.mit.edu	37	chr2	179702112	179702112	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgaaaatgtttctctcttAtcattgcatgcatccgcaaa	11	15	5	10	1	3	1	1	1	2	0	5	1	4	1	1	0	2	4	1	0	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:179702112A>T	ENST00000420890.2	-	23	3951	c.3834T>A	c.(3832-3834)gaT>gaA	p.D1278E	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.D703E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	703							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTCTCTCTTATCATTGCATG	0.512													19	66					0	0	0	0	T	179702112	A	T	179702112	3	4	462	1	0	0	0	0	1	0	0	0	2800	446	16	5	522	5	CCDC141	2	179702112	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	60132	179702112	63497261	33	89752											
MAP2	4133	broad.mit.edu	37	chr2	210543340	210543340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtagtcactgctgaggctGtagcagtcctgaaaggtgaa	12	9	13	7	0	1	3	1	3	0	0	2	3	2	3	1	2	2	5	1	2	5	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:210543340G>T	ENST00000360351.4	+	5	813	c.307G>T	c.(307-309)Gta>Tta	p.V103L	MAP2_ENST00000392194.1_Missense_Mutation_p.V103L|MAP2_ENST00000361559.4_Missense_Mutation_p.V103L|MAP2_ENST00000199940.6_Missense_Mutation_p.V103L|MAP2_ENST00000447185.1_Missense_Mutation_p.V103L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	103					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGCTGAGGCTGTAGCAGTCCT	0.413													17	44					5.3912e-06	5.73242e-06	1	0	T	210543340	G	T	210543340	3	4	462	1	0	0	0	0	1	0	0	0	9304	1377	48	4	313	4	MAP2	2	210543340	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	30841228	210543340	32656033	34	89753											
ERBB4	2066	broad.mit.edu	37	chr2	212587161	212587161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatatgtgtactttgcAttgaaattgtgctccagttg	8	16	9	8	0	0	1	0	1	0	0	2	1	2	1	2	0	3	5	2	0	3	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:212587161A>T	ENST00000342788.4	-	7	1150	c.840T>A	c.(838-840)aaT>aaA	p.N280K	ERBB4_ENST00000402597.1_Missense_Mutation_p.N280K|ERBB4_ENST00000436443.1_Missense_Mutation_p.N280K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	280	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTACTTTGCATTGAAATTGT	0.373										TSP Lung(8;0.080)			36	67					0	0	0	0	T	212587161	A	T	212587161	3	4	462	1	0	0	0	0	1	0	0	0	5247	214	8	5	3174	5	ERBB4	2	212587161	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	2043821	212587161	30612212	35	89754											
THAP4	51078	broad.mit.edu	37	chr2	242573432	242573432	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatacttagtgggagtcCagttatccctctgaacagct	11	12	9	9	0	1	2	0	2	1	0	3	3	3	3	2	1	3	2	2	1	5	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:242573432C>T	ENST00000407315.1	-	2	571	c.140G>A	c.(139-141)tGg>tAg	p.W47*		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	47							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGTGGGAGTCCAGTTATCCCT	0.443													42	157					0	0	0	0	T	242573432	C	T	242573432	4	4	462	1	0	0	0	0	0	1	0	0	15940	595	21	4	1621	4	THAP4	2	242573432	Nonsense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	29986271	242573432	625941	36	89755											
LRRN1	57633	broad.mit.edu	37	chr3	3886758	3886758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacaagacctcagcaacCttcaagaactctacatcaac	15	8	4	14	0	5	2	3	0	2	2	5	2	5	2	2	0	6	1	2	0	7	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:3886758C>A	ENST00000319331.3	+	2	1194	c.433C>A	c.(433-435)Ctt>Att	p.L145I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	145						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCTCAGCAACCTTCAAGAACT	0.443													23	46					3.5997e-14	4.19965e-14	1	0	A	3886758	C	A	3886758	3	1	462	1	0	0	0	0	1	0	0	0	9098	681	24	4	435	4	LRRN1	3	3886758	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		3886758	194135672	37	89756											
RARB	5915	broad.mit.edu	37	chr3	25611300	25611300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagacttcgaagcaagaatGcacagagagctatgaaatga	17	6	12	6	1	0	5	0	2	0	3	1	8	0	5	0	1	3	3	0	1	5	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:25611300G>A	ENST00000330688.4	+	4	921	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	RARB_ENST00000437042.2_Missense_Mutation_p.C55Y|RARB_ENST00000458646.1_Missense_Mutation_p.C55Y|RARB_ENST00000404969.1_Missense_Mutation_p.C174Y|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	174	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAGCAAGAATGCACAGAGAGC	0.498													5	53					0	0	0	0	A	25611300	G	A	25611300	3	1	462	1	0	0	0	0	1	0	0	0	13135	1319	46	4	514	4	RARB	3	25611300	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	21724542	25611300	172411130	38	89757											
OR5AC2	81050	broad.mit.edu	37	chr3	97806442	97806442	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatgatgtccaacaaactCagcgctcagttgctaagtat	12	11	9	9	1	2	2	2	2	0	0	3	2	3	2	1	0	4	4	1	0	4	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:97806442C>G	ENST00000358642.2	+	1	426	c.426C>G	c.(424-426)ctC>ctG	p.L142L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142L(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CCAACAAACTCAGCGCTCAGT	0.418													71	291					0	0	0	0	G	97806442	C	G	97806442	2	3	462	1	0	0	0	0	0	0	0	1	11212	813	29	2		2	OR5AC2	3	97806442	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	72195142	97806442	100215988	39	89758											
SIDT1	54847	broad.mit.edu	37	chr3	113327358	113327358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgcttgctaccatgtctgCcctaattattccaacttcca	9	14	5	13	0	1	0	0	0	1	0	3	0	3	0	4	0	5	2	4	0	4	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:113327358C>T	ENST00000264852.4	+	17	2421	c.1695C>T	c.(1693-1695)tgC>tgT	p.C565C	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.C565C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	565						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ACCATGTCTGCCCTAATTATT	0.423													58	226					0	0	0	0	T	113327358	C	T	113327358	2	4	462	1	0	0	0	0	0	0	0	1	14390	747	26	4		4	SIDT1	3	113327358	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	15520916	113327358	84695072	40	89759											
ZNF80	7634	broad.mit.edu	37	chr3	113955304	113955304	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtgggtcatactatgTcggaagaaaacagagcggta	13	8	14	6	2	1	2	1	0	0	2	2	3	1	3	0	3	3	2	0	3	6	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:113955304T>A	ENST00000482457.2	-	1	1121	c.618A>T	c.(616-618)cgA>cgT	p.R206R		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	206						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)				TCATACTATGTCGGAAGAAAA	0.493													10	190					0	0	0	0	A	113955304	T	A	113955304	2	1	462	1	0	0	0	0	0	0	0	1	18261	1654	58	5		5	ZNF80	3	113955304	Silent	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	627946	113955304	84067126	41	89760											
KALRN	8997	broad.mit.edu	37	chr3	124398338	124398338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaggaatcagagtgtgatGatcttgaccctaatactagc	12	10	10	9	1	2	4	1	3	1	1	2	6	2	5	2	1	2	0	2	1	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:124398338G>C	ENST00000360013.3	+	51	7478	c.7351G>C	c.(7351-7353)Gat>Cat	p.D2451H	KALRN_ENST00000291478.4_Missense_Mutation_p.D754H|KALRN_ENST00000428018.2_Missense_Mutation_p.D722H|KALRN_ENST00000462213.1_Missense_Mutation_p.D68H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2450					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGTGTGATGATCTTGACCC	0.433													13	121					0	0	0	0	C	124398338	G	C	124398338	3	2	462	1	0	0	0	0	1	0	0	0	8028	1290	45	2	7709	2	KALRN	3	124398338	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	10443034	124398338	73624092	42	89761											
SNX4	8723	broad.mit.edu	37	chr3	125223552	125223552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgcttctgaaacactgaTttctatcttcttcaaccaaa	11	16	3	11	0	6	2	1	2	5	0	6	2	6	2	1	0	3	1	1	0	4	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:125223552T>C	ENST00000251775.4	-	2	202	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	60					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						GAAACACTGATTTCTATCTTC	0.338													17	48					0	0	0	0	C	125223552	T	C	125223552	3	2	462	1	0	0	0	0	1	0	0	0	14992	1493	52	5	1226	5	SNX4	3	125223552	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	825214	125223552	72798878	43	89762											
DLG1	1739	broad.mit.edu	37	chr3	196865257	196865257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactcgtaatatacagtcaTtgaccctgagaaaacaatta	16	12	5	8	1	1	2	1	2	0	1	2	3	1	2	1	0	3	1	1	0	8	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:196865257T>C	ENST00000346964.2	-	10	1007	c.818A>G	c.(817-819)aAt>aGt	p.N273S	DLG1_ENST00000392382.2_Missense_Mutation_p.N240S|DLG1_ENST00000357674.4_Missense_Mutation_p.N240S|DLG1_ENST00000443183.1_Missense_Mutation_p.N157S|DLG1_ENST00000314062.3_Missense_Mutation_p.N222S|DLG1_ENST00000419354.1_Missense_Mutation_p.N273S|DLG1_ENST00000452595.1_Missense_Mutation_p.N157S|DLG1_ENST00000450955.1_Missense_Mutation_p.N240S|DLG1_ENST00000448528.2_Missense_Mutation_p.N273S|DLG1_ENST00000422288.1_Missense_Mutation_p.N222S	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	273	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TATACAGTCATTGACCCTGAG	0.274													60	55					0	0	0	0	C	196865257	T	C	196865257	3	2	462	1	0	0	0	0	1	0	0	0	4591	1493	52	5	2068	5	DLG1	3	196865257	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	71641705	196865257	1157173	44	89763											
HTT	3064	broad.mit.edu	37	chr4	3225279	3225279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaagcctctgaaagctctCgacaccaggtttgcttgagt	11	10	9	11	1	2	2	0	2	2	0	3	3	2	2	2	1	4	3	2	1	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:3225279C>T	ENST00000355072.5	+	55	7762	c.7617C>T	c.(7615-7617)ctC>ctT	p.L2539L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2539					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGAAAGCTCTCGACACCAGGT	0.602													7	43					0	0	0	0	T	3225279	C	T	3225279	2	4	462	1	0	0	0	0	0	0	0	1	7510	871	31	1		1	HTT	4	3225279	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		3225279	187928997	45	89764											
KIT	3815	broad.mit.edu	37	chr4	55599289	55599289	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttactcatggtcggatCacaaagatttgtgattttgg	9	15	9	8	1	2	2	2	1	0	1	4	3	3	3	1	3	1	0	1	3	2	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:55599289C>A	ENST00000288135.5	+	17	2512	c.2415C>A	c.(2413-2415)atC>atA	p.I805I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	805	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.I805I(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGGTCGGATCACAAAGATTT	0.383		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				49	109					2.9001e-28	3.60013e-28	1	0	A	55599289	C	A	55599289	2	1	462	1	0	0	0	0	0	0	0	1	8381	816	29	2		2	KIT	4	55599289	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	52374010	55599289	135554987	46	89765											
PPM1K	152926	broad.mit.edu	37	chr4	89199431	89199431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcattctctttccgtttgCcaatctgtgaggcgcacccc	5	14	7	15	2	3	1	1	1	2	0	5	1	4	1	4	1	1	2	4	1	1	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:89199431C>G	ENST00000295908.6	-	2	694	c.305G>C	c.(304-306)gGc>gCc	p.G102A	PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.G102A|PPM1K_ENST00000315194.4_Missense_Mutation_p.G102A	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	102	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TTTCCGTTTGCCAATCTGTGA	0.498													25	36					0	0	0	0	G	89199431	C	G	89199431	3	3	462	1	0	0	0	0	1	0	0	0	12419	739	26	4	837	4	PPM1K	4	89199431	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	33600142	89199431	101954845	47	89766											
BBS7	55212	broad.mit.edu	37	chr4	122756431	122756431	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccatactggccttcaattGagcgaatctgattcaacaca	12	11	7	11	1	3	2	2	2	1	0	3	3	3	2	2	1	4	0	2	1	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:122756431G>C	ENST00000264499.4	-	14	1562	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.S460*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	460					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCCTTCAATTGAGCGAATCTG	0.358									Bardet-Biedl syndrome				22	68					0	0	0	0	C	122756431	G	C	122756431	4	2	462	1	0	0	0	0	0	1	0	0	1345	1294	45	2	797	2	BBS7	4	122756431	Nonsense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	33557000	122756431	68397845	48	89767											
FAT4	79633	broad.mit.edu	37	chr4	126412023	126412023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatatggtcaaggtttGagaaccagctccctaagcca	11	10	8	12	0	2	1	2	1	0	1	3	2	3	1	4	2	3	2	4	2	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:126412023G>T	ENST00000394329.3	+	17	14059	c.14046G>T	c.(14044-14046)ttG>ttT	p.L4682F	FAT4_ENST00000335110.5_Missense_Mutation_p.L2923F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCAAGGTTTGAGAACCAGCT	0.507													26	32					2.27525e-19	2.75656e-19	1	0	T	126412023	G	T	126412023	3	4	462	1	0	0	0	0	1	0	0	0	5737	1281	45	2	14112	2	FAT4	4	126412023	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	3655592	126412023	64742253	49	89768											
PCDH10	57575	broad.mit.edu	37	chr4	134073258	134073258	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacccccagcggccttatGagctggtgatcgaggtgcgc	6	7	15	13	4	0	2	0	2	0	0	1	4	0	2	3	3	3	1	3	3	1	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:134073258G>T	ENST00000264360.4	+	1	2789	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E655K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGGCCTTATGAGCTGGTGAT	0.692													12	22					3.07112e-06	3.27933e-06	1	0	T	134073258	G	T	134073258	4	4	462	1	0	0	0	0	0	1	0	0	11578	1291	45	2	1965	2	PCDH10	4	134073258	Nonsense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	7661235	134073258	57081018	50	89769											
ABCE1	6059	broad.mit.edu	37	chr4	146044652	146044652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatactccatgcaaaaaagAcagcctttgttgtggaacat	14	11	7	9	0	1	1	1	0	0	1	2	2	2	2	2	1	4	2	2	1	5	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:146044652A>G	ENST00000296577.4	+	16	2055	c.1540A>G	c.(1540-1542)Aca>Gca	p.T514A	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	514	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TGCAAAAAAGACAGCCTTTGT	0.373													20	48					0	0	0	0	G	146044652	A	G	146044652	3	3	462	1	0	0	0	0	1	0	0	0	64	275	10	5	1598	5	ABCE1	4	146044652	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	11971394	146044652	45109624	51	89770											
RBM46	166863	broad.mit.edu	37	chr4	155718975	155718975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttcaggttgggaaggtcCacctccacctagaggctgtg	7	10	13	11	1	1	1	1	0	0	1	4	2	3	2	4	4	0	3	4	4	2	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:155718975C>T	ENST00000510397.1	+	3	343	c.164C>T	c.(163-165)cCa>cTa	p.P55L	RBM46_ENST00000281722.3_Missense_Mutation_p.P55L|RBM46_ENST00000514866.1_Missense_Mutation_p.P55L	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	55							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGGAAGGTCCACCTCCACCT	0.348													24	42					0	0	0	0	T	155718975	C	T	155718975	3	4	462	1	0	0	0	0	1	0	0	0	13222	594	21	4	170	4	RBM46	4	155718975	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	9674323	155718975	35435301	52	89771											
NEIL3	55247	broad.mit.edu	37	chr4	178283546	178283546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatttttttgtgtgtcCtcttgggaaggaaaaacaat	14	14	9	4	0	1	1	0	0	1	1	2	3	2	3	1	2	1	0	1	2	6	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:178283546C>A	ENST00000264596.3	+	10	1857	c.1739C>A	c.(1738-1740)cCt>cAt	p.P580H		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	580					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTTGTGTGTCCTCTTGGGAAG	0.398								Base excision repair (BER), DNA glycosylases					20	97					1.55795e-14	1.83459e-14	1	0	A	178283546	C	A	178283546	3	1	462	1	0	0	0	0	1	0	0	0	10390	681	24	4	1777	4	NEIL3	4	178283546	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	22564571	178283546	12870730	53	89772											
C5orf38	153571	broad.mit.edu	37	chr5	2755276	2755277	+	Frame_Shift_Ins	INS	-	-	A																															cggggacgcggccgactgagINSaaggccggggcgctcgccgg																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:2755276_2755277insA	ENST00000397835.4	+	3	467_468	c.467_468insA	c.(466-468)aagfs	p.K156fs	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	42						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGCCGACTGAGAAggccggggc	0.777													28	28	---	---	---	---					A	2755277	-	A	2755276	7	5	462	1	0	1	1	0	0	0	0	0	2317	957	33	0		0	C5orf38	5	2755276	Frame_Shift_Ins	INS	-	TCGA-P3-A6SX-01A-11D-A34J-08		2755276	178159984	54	89773											
ADCY2	108	broad.mit.edu	37	chr5	7520913	7520913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttcaacatgcgagaCgccatcattgccagcgtcct	8	9	8	16	3	2	1	2	0	0	1	3	2	3	1	4	0	5	0	4	0	1	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:7520913C>A	ENST00000338316.4	+	3	560	c.471C>A	c.(469-471)gaC>gaA	p.D157E		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					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.D157D(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						ACATGCGAGACGCCATCATTG	0.547													39	61					1.90571e-15	2.27601e-15	1	0	A	7520913	C	A	7520913	3	1	462	1	0	0	0	0	1	0	0	0	294	535	19	3	481	3	ADCY2	5	7520913	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	4765637	7520913	173394347	55	89774											
PRDM9	56979	broad.mit.edu	37	chr5	23523408	23523408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaactcagatcaccaaGgggagaaactgctatgagta	15	8	10	8	0	3	4	2	2	1	2	3	5	3	4	1	2	3	2	1	2	5	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:23523408G>T	ENST00000296682.3	+	9	1073	c.891G>T	c.(889-891)aaG>aaT	p.K297N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	297	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGATCACCAAGGGGAGAAACT	0.438										HNSCC(3;0.000094)			16	88					6.94344e-10	7.77666e-10	1	0	T	23523408	G	T	23523408	3	4	462	1	0	0	0	0	1	0	0	0	12543	991	35	4	921	4	PRDM9	5	23523408	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	16002495	23523408	157391852	56	89775											
CDH9	1007	broad.mit.edu	37	chr5	26881714	26881714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgcctcttcaatgcaGcaaacaacacgactaaaact	14	11	4	12	1	3	0	1	0	2	0	3	1	3	0	1	0	6	2	1	0	5	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:26881714G>C	ENST00000231021.4	-	12	2073	c.1901C>G	c.(1900-1902)gCt>gGt	p.A634G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	634					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCAATGCAGCAAACAACAC	0.388													16	85					0	0	0	0	C	26881714	G	C	26881714	3	2	462	1	0	0	0	0	1	0	0	0	3146	971	34	4	472	4	CDH9	5	26881714	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	3358306	26881714	154033546	57	89776											
AGXT2	64902	broad.mit.edu	37	chr5	35010176	35010176	+	Missense_Mutation	SNP	C	C	A																															tccaacaatttcaaattcatCccgcagcttagcaaacttta																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:35010176C>A	ENST00000231420.6	-	12	1467	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	423					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCAAATTCATCCCGCAGCTTA	0.428													73	74					1.15773e-35	1.45874e-35	1	0	A	35010176	C	A	35010176	3	1	462	1	0	0	0	0	1	0	0	0	405	855	30	2	289	2	AGXT2	5	35010176	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	8128462	35010176	145905084	58	89777	1106	2									
AGXT2	64902	broad.mit.edu	37	chr5	35010177	35010177	+	Silent	SNP	C	C	G																															ccaacaatttcaaattcatcCcgcagcttagcaaactttag																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:35010177C>G	ENST00000231420.6	-	12	1466	c.1266G>C	c.(1264-1266)cgG>cgC	p.R422R		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	422					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CAAATTCATCCCGCAGCTTAG	0.428													71	73					0	0	0	0	G	35010177	C	G	35010177	2	3	462	1	0	0	0	0	0	0	0	1	405	610	22	4		4	AGXT2	5	35010177	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	1	35010177	145905083	59	89778	1106	2									
HMGCR	3156	broad.mit.edu	37	chr5	74647084	74647084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacctatgctggtcagaaAtaaccagaaatgtgattcag	15	10	9	7	0	2	4	2	2	0	2	2	4	2	4	2	1	3	1	2	1	5	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:74647084A>G	ENST00000287936.4	+	10	1289	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	HMGCR_ENST00000511206.1_Missense_Mutation_p.N378S|HMGCR_ENST00000343975.5_Missense_Mutation_p.N378S	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	378	Linker.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTGGTCAGAAATAACCAGAAA	0.388													46	32					0	0	0	0	G	74647084	A	G	74647084	3	3	462	1	0	0	0	0	1	0	0	0	7281	101	4	5	1167	5	HMGCR	5	74647084	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	39636907	74647084	106268176	60	89779											
PJA2	9867	broad.mit.edu	37	chr5	108713935	108713935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgtcatagagttggtaaTaatctccacagccattccaa	12	13	6	10	0	2	1	1	0	1	1	4	1	3	1	3	1	1	2	3	1	4	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:108713935T>C	ENST00000361189.2	-	4	1492	c.1253A>G	c.(1252-1254)tAt>tGt	p.Y418C	PJA2_ENST00000361557.3_Missense_Mutation_p.Y418C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	418					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GAGTTGGTAATAATCTCCACA	0.398													43	41					0	0	0	0	C	108713935	T	C	108713935	3	2	462	1	0	0	0	0	1	0	0	0	12034	1406	49	5	901	5	PJA2	5	108713935	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	34066851	108713935	72201325	61	89780											
CDHR2	54825	broad.mit.edu	37	chr5	176008504	176008504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaccccgccctggagggccGcattgtgctgacagtgcttg	5	8	14	14	3	0	1	0	1	0	0	0	3	0	2	4	2	2	3	4	2	0	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:176008504G>A	ENST00000510636.1	+	17	2253	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	CDHR2_ENST00000506348.1_Missense_Mutation_p.R660H|CDHR2_ENST00000261944.5_Missense_Mutation_p.R660H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	660	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAGGGCCGCATTGTGCTG	0.622													6	53					0	0	0	0	A	176008504	G	A	176008504	3	1	462	1	0	0	0	0	1	0	0	0	3148	1087	38	1	2041	1	CDHR2	5	176008504	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	67294569	176008504	4906756	62	89781											
MYLK4	340156	broad.mit.edu	37	chr6	2685586	2685586	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatcgtacagctggatGaggttcgcgtggtccagctg	8	9	15	9	3	0	1	0	1	0	0	3	2	1	2	1	4	3	5	1	4	2	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:2685586G>T	ENST00000274643.7	-	6	831	c.489C>A	c.(487-489)ctC>ctA	p.L163L	MYLK4_ENST00000268446.5_Silent_p.L163L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	163	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ACAGCTGGATGAGGTTCGCGT	0.567													24	172					1.1804e-14	1.39653e-14	1	0	T	2685586	G	T	2685586	2	4	462	1	0	0	0	0	0	0	0	1	10129	1277	45	2		2	MYLK4	6	2685586	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08		2685586	168429481	63	89782											
HIST1H2BA	255626	broad.mit.edu	37	chr6	25727498	25727498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcaccaaggctgtcaCtaagtacaccagctccaagt	12	7	10	12	0	1	1	1	1	0	0	2	1	2	1	3	2	2	4	3	2	4	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:25727498C>A	ENST00000274764.2	+	1	362	c.362C>A	c.(361-363)aCt>aAt	p.T121N		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	121					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T117_S125delTKAVTKYTS(1)		breast(1)|kidney(1)	2						AAGGCTGTCACTAAGTACACC	0.498													20	30					1.01871e-10	1.15119e-10	1	0	A	25727498	C	A	25727498	3	1	462	1	0	0	0	0	1	0	0	0	7190	565	20	4	364	4	HIST1H2BA	6	25727498	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	23041912	25727498	145387569	64	89783											
RSPH9	221421	broad.mit.edu	37	chr6	43612827	43612827	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgggcgttgagcggagccGctgacctgatggacgccgac	7	5	17	12	6	0	3	0	3	0	0	0	7	0	5	3	3	2	2	3	3	0	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:43612827G>A	ENST00000372165.4	+	0	45				RSPH9_ENST00000372163.4_De_novo_Start_OutOfFrame	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)						cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAGCGGAGCCGCTGACCTGAT	0.687									Kartagener syndrome				12	28					0	0	0	0	A	43612827	G	A	43612827	1	1	462	1	0	0	0	0	0	0	0	0	13793	1102	38	1		1	RSPH9	6	43612827	Translation_Start_Site	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	17885329	43612827	127502240	65	89784											
BAI3	577	broad.mit.edu	37	chr6	69640540	69640540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggaacaagctgatgctGctaaatttatggcacaaact	14	10	8	9	0	1	1	1	1	0	0	1	2	1	2	0	2	5	4	0	2	6	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:69640540G>T	ENST00000370598.1	+	4	1668	c.847G>T	c.(847-849)Gct>Tct	p.A283S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	283					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCTGATGCTGCTAAATTTAT	0.348													14	34					7.93312e-07	8.54336e-07	1	0	T	69640540	G	T	69640540	3	4	462	1	0	0	0	0	1	0	0	0	1304	1319	46	4	853	4	BAI3	6	69640540	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	26027713	69640540	101474527	66	89785											
RIMS1	22999	broad.mit.edu	37	chr6	72975745	72975745	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagtttgcattcaccagaaCgagaaaggtataaaataaag	18	9	8	6	1	1	2	1	0	0	2	1	3	1	2	1	1	2	3	1	1	8	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:72975745C>T	ENST00000264839.7	+	21	3277	c.3277C>T	c.(3277-3279)Cga>Tga	p.R1093*	RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R1067*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R526*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R1131*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R541*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R1067*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R1066*|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R540*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.R460*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1131					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTCACCAGAACGAGAAAGGTA	0.388													4	6					0	0	0	0	T	72975745	C	T	72975745	4	4	462	1	0	0	0	0	0	1	0	0	13452	528	19	1	3640	1	RIMS1	6	72975745	Nonsense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	3335205	72975745	98139322	67	89786											
GRIK2	2898	broad.mit.edu	37	chr6	102247607	102247607	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgacagtcagttccttgCagtgtaatcgacataaaccc	13	10	8	10	1	1	2	1	1	0	1	3	3	2	2	2	0	2	3	2	0	3	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:102247607C>T	ENST00000369138.1	+	7	1526	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	GRIK2_ENST00000369137.3_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.Q297*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.Q346*	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	346					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CAGTTCCTTGCAGTGTAATCG	0.458													42	101					0	0	0	0	T	102247607	C	T	102247607	4	4	462	1	0	0	0	0	0	1	0	0	6824	711	25	4	1062	4	GRIK2	6	102247607	Nonsense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	29271862	102247607	68867460	68	89787											
SEC63	11231	broad.mit.edu	37	chr6	108197819	108197819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatggcatggatattaatgtCtgctccttcctatctgcaat	9	16	7	9	0	2	0	0	0	2	0	4	1	4	1	2	2	2	3	2	2	5	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:108197819C>T	ENST00000369002.4	-	19	2162	c.1983G>A	c.(1981-1983)caG>caA	p.Q661Q		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	661	SEC63 2.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ATATTAATGTCTGCTCCTTCC	0.363													28	148					0	0	0	0	T	108197819	C	T	108197819	2	4	462	1	0	0	0	0	0	0	0	1	14092	912	32	2		2	SEC63	6	108197819	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	5950212	108197819	62917248	69	89788											
FAM184A	79632	broad.mit.edu	37	chr6	119327323	119327323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgccgaatgccaagaaTgcctggtgctaccagaagct	11	9	11	10	1	0	2	0	0	0	2	0	3	0	2	4	1	6	3	4	1	5	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:119327323T>C	ENST00000522284.1	-	8	1849	c.1474A>G	c.(1474-1476)Att>Gtt	p.I492V	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000338891.7_Intron			Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	0										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						atgccaagaatgcctggtgct	0.443													30	64					0	0	0	0	C	119327323	T	C	119327323	3	2	462	1	0	0	0	0	1	0	0	0	5553	1479	51	5		5	FAM184A	6	119327323	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	11129504	119327323	51787744	70	89789											
THEMIS	387357	broad.mit.edu	37	chr6	128134538	128134538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctcataggactttttgagGattttttcacaggccagaac	10	13	9	9	0	2	2	2	1	0	1	2	4	2	4	2	3	1	0	2	3	2	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:128134538G>A	ENST00000368250.1	-	5	1509	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	THEMIS_ENST00000368248.2_Silent_p.I416I|THEMIS_ENST00000543064.1_Silent_p.I416I|THEMIS_ENST00000537166.1_Silent_p.I381I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	416	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTTTTTGAGGATTTTTTCAC	0.448													42	83					0	0	0	0	A	128134538	G	A	128134538	2	1	462	1	0	0	0	0	0	0	0	1	15954	1164	41	2		2	THEMIS	6	128134538	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	8807215	128134538	42980529	71	89790											
SYNE1	23345	broad.mit.edu	37	chr6	152655242	152655242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgaagatcctcttccCtttgcaagcacaggttgtta	8	15	7	11	0	2	2	0	1	2	1	5	2	4	2	2	1	2	4	2	1	3	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:152655242C>T	ENST00000367255.5	-	77	13296	c.12695G>A	c.(12694-12696)aGg>aAg	p.R4232K	SYNE1_ENST00000265368.4_Missense_Mutation_p.R4232K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4161K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4161K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4097K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4232					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCTCTTCCCTTTGCAAGCA	0.398										HNSCC(10;0.0054)			79	171					0	0	0	0	T	152655242	C	T	152655242	3	4	462	1	0	0	0	0	1	0	0	0	15536	681	24	4	14051	4	SYNE1	6	152655242	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	24520704	152655242	18459825	72	89791											
THBS2	7058	broad.mit.edu	37	chr6	169648545	169648545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcagagcctttggcCacgtacatccggctcttttc	5	13	9	14	2	2	1	0	0	2	1	5	1	3	1	3	3	2	3	3	3	1	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:169648545C>T	ENST00000366787.3	-	4	825	c.576G>A	c.(574-576)gtG>gtA	p.V192V		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	192	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGCCTTTGGCCACGTACATCC	0.587													4	162					0	0	0	0	T	169648545	C	T	169648545	2	4	462	1	0	0	0	0	0	0	0	1	15948	581	21	4		4	THBS2	6	169648545	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	16993303	169648545	1466522	73	89792											
CARD11	84433	broad.mit.edu	37	chr7	2987215	2987215	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctaaggttacctgctcGgttgatcttggatggcagca	7	12	13	9	1	1	1	0	1	1	0	3	2	2	2	2	5	3	5	2	5	2	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:2987215G>A	ENST00000396946.4	-	3	617	c.214C>T	c.(214-216)Cga>Tga	p.R72*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	72	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTACCTGCTCGGTTGATCTTG	0.527			Mis		DLBCL								9	141					0	0	0	0	A	2987215	G	A	2987215	4	1	462	1	0	0	0	0	0	1	0	0	2670	1124	39	1	3342	1	CARD11	7	2987215	Nonsense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08		2987215	156151448	74	89793											
DGKB	1607	broad.mit.edu	37	chr7	14661095	14661095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgctgggaaccactcttttCctttttcactgttgattgtc	5	18	7	11	0	2	1	1	1	1	0	4	2	3	2	2	1	2	2	2	1	1	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:14661095C>T	ENST00000403951.2	-	15	1614	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	DGKB_ENST00000407950.1_Missense_Mutation_p.E391K|DGKB_ENST00000406247.3_Missense_Mutation_p.E399K|DGKB_ENST00000258767.5_Missense_Mutation_p.E399K|DGKB_ENST00000399322.3_Missense_Mutation_p.E399K|DGKB_ENST00000402815.1_Missense_Mutation_p.E398K|DGKB_ENST00000444700.2_Missense_Mutation_p.E380K|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	399					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCACTCTTTTCCTTTTTCACT	0.308													25	17					0	0	0	0	T	14661095	C	T	14661095	3	4	462	1	0	0	0	0	1	0	0	0	4503	864	30	2	1282	2	DGKB	7	14661095	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	11673880	14661095	144477568	75	89794											
ISPD	729920	broad.mit.edu	37	chr7	16317850	16317850	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatctcttgggaaattctCtctgaaattaaaaaaaaaaa	20	11	4	6	0	3	1	0	1	3	0	5	2	3	2	0	1	0	0	0	1	9	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:16317850C>G	ENST00000407010.2	-	6	836	c.835_splice	c.e6-1	p.E279_splice	ISPD_ENST00000399310.3_Splice_Site_p.E229_splice|ISPD_ENST00000479493.1_5'UTR	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	279					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GGGAAATTCTCTCTGAAATTA	0.318										Multiple Myeloma(15;0.18)			12	26					0	0	0	0	G	16317850	C	G	16317850	5	3	462	1	0	0	0	0	0	0	1	0	7917	927	32	2	538	2	ISPD	7	16317850	Splice_Site	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	1656755	16317850	142820813	76	89795											
CCDC129	223075	broad.mit.edu	37	chr7	31692300	31692300	+	Missense_Mutation	SNP	G	G	C																															aggaggctccctgttcaggtGggacccagttggctgccttc																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:31692300G>C	ENST00000319386.3	+	14	3541	c.2548G>C	c.(2548-2550)Ggg>Cgg	p.G850R	CCDC129_ENST00000409210.1_Missense_Mutation_p.G906R|CCDC129_ENST00000407970.3_Missense_Mutation_p.G998R|CCDC129_ENST00000451887.2_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	998										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGTTCAGGTGGGACCCAGTT	0.552													24	57					0	0	0	0	C	31692300	G	C	31692300	3	2	462	1	0	0	0	0	1	0	0	0	2789	1348	47	4	3042	4	CCDC129	7	31692300	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	15374450	31692300	127446363	77	89796	1107	2									
CCDC129	223075	broad.mit.edu	37	chr7	31692301	31692301	+	Missense_Mutation	SNP	G	G	T																															ggaggctccctgttcaggtgGgacccagttggctgccttca																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:31692301G>T	ENST00000319386.3	+	14	3542	c.2549G>T	c.(2548-2550)gGg>gTg	p.G850V	CCDC129_ENST00000409210.1_Missense_Mutation_p.G906V|CCDC129_ENST00000407970.3_Missense_Mutation_p.G998V|CCDC129_ENST00000451887.2_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	998										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGTTCAGGTGGGACCCAGTTG	0.552													24	57					1.64293e-13	1.89917e-13	1	0	T	31692301	G	T	31692301	3	4	462	1	0	0	0	0	1	0	0	0	2789	1232	43	4	3043	4	CCDC129	7	31692301	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	1	31692301	127446362	78	89797	1107	2									
MRPS17	51373	broad.mit.edu	37	chr7	56022709	56022709	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccacgagcaaagcatgtGaaacatgaactggctgagat	14	8	11	8	1	0	3	0	3	0	1	1	5	1	3	1	1	4	4	1	1	3	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:56022709G>C	ENST00000285298.4	+	3	360	c.231G>C	c.(229-231)gtG>gtC	p.V77V	MRPS17_ENST00000426595.1_Silent_p.V172V	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	77					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAAGCATGTGAAACATGAAC	0.473													5	316					0	0	0	0	C	56022709	G	C	56022709	2	2	462	1	0	0	0	0	0	0	0	1	9897	1277	45	2		2	MRPS17	7	56022709	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	24330408	56022709	103115954	79	89798											
ADAM22	53616	broad.mit.edu	37	chr7	87792431	87792431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacacaggtgtcttcctgTggcttctttcaactttagta	9	15	8	9	0	3	1	1	0	2	1	4	1	4	1	1	2	2	2	1	2	4	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:87792431T>C	ENST00000398204.4	+	23	2335	c.2012T>C	c.(2011-2013)gTg>gCg	p.V671A	ADAM22_ENST00000315984.7_Missense_Mutation_p.V671A|ADAM22_ENST00000265727.7_Missense_Mutation_p.V671A|ADAM22_ENST00000398201.4_Missense_Mutation_p.V671A|ADAM22_ENST00000398209.3_Missense_Mutation_p.V671A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	671	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCTTCCTGTGGCTTCTTTC	0.423													36	62					0	0	0	0	C	87792431	T	C	87792431	3	2	462	1	0	0	0	0	1	0	0	0	244	1696	59	5	2102	5	ADAM22	7	87792431	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	31769722	87792431	71346232	80	89799											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539840	94539840	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggcccttcatattccaagTtcactgagactcgaaagatg	12	11	8	10	1	2	2	2	1	0	2	4	4	3	2	2	1	0	1	2	1	3	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:94539840T>A	ENST00000289495.5	+	1	631	c.415T>A	c.(415-417)Ttc>Atc	p.F139I	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.F139I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.F139I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	139	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATATTCCAAGTTCACTGAGAC	0.423										HNSCC(28;0.073)			48	210					0	0	0	0	A	94539840	T	A	94539840	3	1	462	1	0	0	0	0	1	0	0	0	12454	1725	60	5	417	5	PPP1R9A	7	94539840	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	6747409	94539840	64598823	81	89800											
TAF6	6878	broad.mit.edu	37	chr7	99711563	99711563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccgcttccccatgtgcatGaacttcaaggcatcctgggg	7	10	11	13	1	1	1	1	1	0	0	3	1	3	1	4	3	3	3	4	3	2	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:99711563G>C	ENST00000344095.4	-	3	696	c.171C>G	c.(169-171)ttC>ttG	p.F57L	TAF6_ENST00000472509.1_Missense_Mutation_p.F114L|TAF6_ENST00000453269.2_Missense_Mutation_p.F57L|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000452041.1_Missense_Mutation_p.F57L|TAF6_ENST00000437822.2_Missense_Mutation_p.F94L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	57					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGTGCATGAACTTCAAGG	0.562													12	143					0	0	0	0	C	99711563	G	C	99711563	3	2	462	1	0	0	0	0	1	0	0	0	15621	1281	45	2	1914	2	TAF6	7	99711563	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	5171723	99711563	59427100	82	89801											
AKR1B1	231	broad.mit.edu	37	chr7	134143791	134143791	+	Frame_Shift_Del	DEL	G	G	-																															atgggcatcttggcgccgttGttgagcaggagacggcttgc																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:134143791delG	ENST00000285930.4	-	1	103	c.24delC	c.(22-24)aafs	p.N9fs	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	9					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	TGGCGCCGTTGTTGAGCAGGA	0.692											OREG0018334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					-	134143791	G	-	134143791	7	5	462	1	0	1	0	1	0	0	0	0	466	1368	48	0	966	0	AKR1B1	7	134143791	Frame_Shift_Del	DEL	G	TCGA-P3-A6SX-01A-11D-A34J-08	34432228	134143791	24994872	83	89802											
GIMAP7	168537	broad.mit.edu	37	chr7	150217161	150217161	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatccttggagaggaaatCtttgattctagaattgctgc	11	13	9	8	0	2	3	0	1	2	2	3	5	3	4	2	2	2	1	2	2	3	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:150217161C>A	ENST00000313543.4	+	2	256	c.99C>A	c.(97-99)atC>atA	p.I33I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	33							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAGGAAATCTTTGATTCTA	0.512													7	30					0.00198382	0.0020322	1	0	A	150217161	C	A	150217161	2	1	462	1	0	0	0	0	0	0	0	1	6435	903	32	2		2	GIMAP7	7	150217161	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	16073370	150217161	8921502	84	89803											
MTUS1	57509	broad.mit.edu	37	chr8	17579364	17579364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattgataaagatttttgaaGaaatatcagtttctgtacaa	17	15	6	3	0	2	4	1	2	1	2	2	4	2	4	0	0	1	2	0	0	8	7			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:17579364G>C	ENST00000381861.3	-	1	366	c.47C>G	c.(46-48)tCt>tGt	p.S16C	MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GATTTTTGAAGAAATATCAGT	0.438													12	52					0	0	0	0	C	17579364	G	C	17579364	3	2	462	1	0	0	0	0	1	0	0	0	10035	942	33	2	1679	2	MTUS1	8	17579364	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08		17579364	128784658	85	89804											
POTEA	340441	broad.mit.edu	37	chr8	43173698	43173698	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atggtgatggtggattagttCcacaaagaaagagcagaaag	16	8	13	4	0	0	4	0	1	0	3	1	5	1	5	1	3	1	2	1	3	4	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:43173698C>G	ENST00000522175.2	+	0	984							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTAGTTCCACAAAGAAA	0.408													40	70					0	0	0	0	G	43173698	C	G	43173698	1	3	462	0	1	0	0	0	0	0	0	0	12333	855	30	2		2	POTEA	8	43173698	RNA	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	25594334	43173698	103190324	86	89805											
CPNE3	8895	broad.mit.edu	37	chr8	87567133	87567133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcctcagataaaactctAtggaccaactaatttttctc	12	15	3	11	0	4	1	1	0	3	1	6	2	5	2	2	1	2	0	2	1	5	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:87567133A>G	ENST00000521271.1	+	15	1337	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	CPNE3_ENST00000198765.4_Missense_Mutation_p.Y392C	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	392	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATAAAACTCTATGGACCAACT	0.428													39	93					0	0	0	0	G	87567133	A	G	87567133	3	3	462	1	0	0	0	0	1	0	0	0	3843	449	16	5	1225	5	CPNE3	8	87567133	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	44393435	87567133	58796889	87	89806											
CNGB3	54714	broad.mit.edu	37	chr8	87683198	87683198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgggctggcttcgggtgagGagagatctccctctaccaac	7	9	14	11	1	2	2	0	1	2	1	4	4	2	3	2	4	2	2	2	4	2	2	rs139207764	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:87683198G>T	ENST00000320005.5	-	4	514	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	156			S -> F (in ACHM3).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTCGGGTGAGGAGAGATCTCC	0.473													77	182					1.1397e-45	1.44324e-45	1	0	T	87683198	G	T	87683198	3	4	462	1	0	0	0	0	1	0	0	0	3631	1174	41	2	2022	2	CNGB3	8	87683198	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	116065	87683198	58680824	88	89807											
MTDH	92140	broad.mit.edu	37	chr8	98657027	98657027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggccgtgccggccgCggcccccgacgacctggcct	2	3	17	19	8	0	0	0	0	0	0	0	2	0	0	7	6	1	0	7	6	0	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:98657027C>T	ENST00000336273.3	+	1	621	c.293C>T	c.(292-294)gCg>gTg	p.A98V	MTDH_ENST00000519934.1_Missense_Mutation_p.A75V	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	98	Interaction with BCCIP.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			gtgccggccgcggcccccgAC	0.672													14	10					0	0	0	0	T	98657027	C	T	98657027	3	4	462	1	0	0	0	0	1	0	0	0	9987	768	27	1	295	1	MTDH	8	98657027	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	10973829	98657027	47706995	89	89808											
EEF1D	1936	broad.mit.edu	37	chr8	144671495	144671495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttccctgggggatggcCgtcaaacagggcctcgtaga	8	7	13	13	2	1	1	1	0	0	1	3	2	2	2	4	4	1	1	4	4	2	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:144671495C>A	ENST00000532741.1	-	1	1135	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G253C|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G253C|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000524624.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	31					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGGATGGCCGTCAAACAGG	0.706													5	8					0.014758	0.014996	1	0	A	144671495	C	A	144671495	3	1	462	1	0	0	0	0	1	0	0	0	4962	652	23	3	1218	3	EEF1D	8	144671495	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	46014468	144671495	1692527	90	89809											
IFNA10	3446	broad.mit.edu	37	chr9	21206966	21206966	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggagagattcttcccAtttgtcccaggagtatcaag	13	10	10	8	0	2	2	1	0	1	2	4	5	4	4	2	2	0	1	2	2	3	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:21206966A>G	ENST00000357374.2	-	1	176	c.131T>C	c.(130-132)aTg>aCg	p.M44T		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	44					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GATTCTTCCCATTTGTCCCAG	0.522													55	68					0	0	0	0	G	21206966	A	G	21206966	3	3	462	1	0	0	0	0	1	0	0	0	7585	217	8	5	442	5	IFNA10	9	21206966	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08		21206966	120006465	91	89810											
CDKN2A	1029	broad.mit.edu	37	chr9	21971156	21971156	+	Frame_Shift_Del	DEL	C	C	-																															gtcggcgcagttgggctccgCgccgtggagcagcagcagct																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:21971156delC	ENST00000579755.1	-	2	537	c.245delG	c.(244-246)ccfs	p.R82fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A17fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.R123fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.R82fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.A68T(5)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TTGGGCTCCGCGCCGTGGAGC	0.706		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	7	---	---	---	---					-	21971156	C	-	21971156	7	5	462	1	0	1	0	1	0	0	0	0	3190	768	27	0	276	0	CDKN2A	9	21971156	Frame_Shift_Del	DEL	C	TCGA-P3-A6SX-01A-11D-A34J-08	764190	21971156	119242275	92	89811											
GRIN3A	116443	broad.mit.edu	37	chr9	104432438	104432438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaaaggcaaaacatacaGaaaatggcccaaaggttcat	18	6	10	7	0	1	1	1	0	0	1	1	2	1	2	1	4	2	2	1	4	7	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:104432438G>A	ENST00000361820.3	-	3	2856	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	752					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAAACATACAGAAAATGGCCC	0.443													42	78					0	0	0	0	A	104432438	G	A	104432438	2	1	462	1	0	0	0	0	0	0	0	1	6833	933	33	2		2	GRIN3A	9	104432438	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	82461282	104432438	36780993	93	89812											
RPL7A	6130	broad.mit.edu	37	chr9	136216806	136216806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacaagtacagaccagAgacaaagcaagagaagaagc	19	1	11	10	0	0	4	0	0	0	4	0	6	0	4	2	1	3	2	2	1	6	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:136216806A>G	ENST00000323345.6	+	4	344	c.314A>G	c.(313-315)gAg>gGg	p.E105G	RPL7A_ENST00000315731.4_Intron|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	105					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TACAGACCAGAGACAAAGCAA	0.517													45	31					0	0	0	0	G	136216806	A	G	136216806	3	3	462	1	0	0	0	0	1	0	0	0	13685	304	11	5	328	5	RPL7A	9	136216806	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	31784368	136216806	4996625	94	89813											
ABCA2	20	broad.mit.edu	37	chr9	139904328	139904328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctgcgtacttggtcagctCcagcttctccagagcccact	6	11	9	15	1	3	1	1	0	2	1	5	1	4	1	3	1	5	3	3	1	1	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:139904328C>T	ENST00000265662.5	-	43	6670	c.6523G>A	c.(6523-6525)Gag>Aag	p.E2175K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E2175K|ABCA2_ENST00000371605.3_Missense_Mutation_p.E2174K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2174	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGGTCAGCTCCAGCTTCTCC	0.647													4	15					0	0	0	0	T	139904328	C	T	139904328	3	4	462	1	0	0	0	0	1	0	0	0	32	864	30	2	815	2	ABCA2	9	139904328	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	3687522	139904328	1309103	95	89814											
GDI2	2665	broad.mit.edu	37	chr10	5808025	5808025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttcctcaaagtcaaactCtgatcctgtcatcctcttat	10	15	3	13	0	5	1	3	1	2	0	8	1	8	1	3	0	1	0	3	0	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:5808025C>G	ENST00000380191.4	-	11	1572	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.E383Q|GDI2_ENST00000380132.4_Missense_Mutation_p.E432Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	428					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAGTCAAACTCTGATCCTGTC	0.358													18	63					0	0	0	0	G	5808025	C	G	5808025	3	3	462	1	0	0	0	0	1	0	0	0	6372	922	32	2	59	2	GDI2	10	5808025	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		5808025	129726722	96	89815											
WAC	51322	broad.mit.edu	37	chr10	28905264	28905264	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcataaaacacgttcaaggAtggcctgcagatcatgcaga	14	8	9	10	1	3	2	3	0	0	2	3	3	3	3	1	2	3	3	1	2	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:28905264A>T	ENST00000375664.3	+	12	2193	c.1584A>T	c.(1582-1584)ggA>ggT	p.G528G	WAC_ENST00000347934.4_Silent_p.G470G|WAC_ENST00000354911.4_Silent_p.G573G|WAC_ENST00000375646.1_Silent_p.G421G			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	573					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACGTTCAAGGATGGCCTGCAG	0.413													20	66					0	0	0	0	T	28905264	A	T	28905264	2	4	462	1	0	0	0	0	0	0	0	1	17343	320	12	5		5	WAC	10	28905264	Silent	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	23097239	28905264	106629483	97	89816											
OGDHL	55753	broad.mit.edu	37	chr10	50948845	50948845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcataggcacacacgtcctgCggtcaacctcctggtcatgg	8	9	10	14	2	3	0	3	0	0	0	5	0	5	0	3	4	2	1	3	4	2	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:50948845C>T	ENST00000374103.4	-	16	2136	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	OGDHL_ENST00000419399.1_Missense_Mutation_p.R627H|OGDHL_ENST00000432695.1_Missense_Mutation_p.R475H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	684					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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						ACACGTCCTGCGGTCAACCTC	0.627													14	45					0	0	0	0	T	50948845	C	T	50948845	3	4	462	1	0	0	0	0	1	0	0	0	10911	768	27	1	1013	1	OGDHL	10	50948845	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	22043581	50948845	84585902	98	89817											
AGAP6	414189	broad.mit.edu	37	chr10	51768660	51768660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtttacatctgagaaaGggagtgacccagacaaagag	15	7	11	8	0	1	4	0	2	1	3	1	6	1	5	2	1	1	1	2	1	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:51768660G>T	ENST00000374056.4	+	7	1104	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	259					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G259W(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATCTGAGAAAGGGAGTGACCC	0.562													86	201					7.11685e-60	9.10379e-60	1	0	T	51768660	G	T	51768660	3	4	462	1	0	0	0	0	1	0	0	0	372	1000	35	4	805	4	AGAP6	10	51768660	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	819815	51768660	83766087	99	89818											
CTNNA3	29119	broad.mit.edu	37	chr10	68280454	68280454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtatatgattctcccatgtAcgcttgtacatttccatggt	8	17	7	9	1	1	1	0	1	1	0	3	1	2	1	2	1	2	4	2	1	4	7			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:68280454A>G	ENST00000433211.1	-	11	1626	c.1452T>C	c.(1450-1452)cgT>cgC	p.R484R	CTNNA3_ENST00000373744.4_Silent_p.R484R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	484					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTCCCATGTACGCTTGTACA	0.368													43	87					0	0	0	0	G	68280454	A	G	68280454	2	3	462	1	0	0	0	0	0	0	0	1	4046	378	14	5		5	CTNNA3	10	68280454	Silent	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	16511794	68280454	67254293	100	89819											
NUDT13	25961	broad.mit.edu	37	chr10	74882016	74882017	+	Frame_Shift_Ins	INS	-	-	A																															tggatgctctgagcagcaggINSaagcatggtttgctctggat																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:74882016_74882017insA	ENST00000357321.4	+	4	425_426	c.307_308insA	c.(307-309)agcfs	p.S103fs	NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Frame_Shift_Ins_p.S103fs|NUDT13_ENST00000372997.3_Frame_Shift_Ins_p.S103fs	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	103							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TGAGCAGCAGGAAGCATGGTTT	0.446													40	98	---	---	---	---					A	74882017	-	A	74882016	7	5	462	1	0	1	1	0	0	0	0	0	10800	1175	41	0	317	0	NUDT13	10	74882016	Frame_Shift_Ins	INS	-	TCGA-P3-A6SX-01A-11D-A34J-08	6601562	74882016	60652731	101	89820											
GLUD1	2746	broad.mit.edu	37	chr10	88834371	88834371	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatcttttccaattcattatCctgtaaaataagaaaacaaa	18	13	3	7	0	2	1	1	0	1	1	4	2	4	1	2	0	1	1	2	0	8	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:88834371C>T	ENST00000277865.4	-	4	679	c.582_splice	c.e4-1	p.D195_splice	GLUD1_ENST00000544149.1_Splice_Site_p.D62_splice|GLUD1_ENST00000537649.1_Splice_Site_p.D28_splice	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	195					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	AATTCATTATCCTGTAAAATA	0.299													12	105					0	0	0	0	T	88834371	C	T	88834371	5	4	462	1	0	0	0	0	0	0	1	0	6527	869	30	2	1133	2	GLUD1	10	88834371	Splice_Site	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	13952355	88834371	46700376	102	89821											
TACC2	10579	broad.mit.edu	37	chr10	123844120	123844120	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtcctgacacccttcAgagcagggaaggattgggaa	13	7	12	9	0	1	2	1	1	0	1	2	5	2	5	2	3	1	1	2	3	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:123844120A>C	ENST00000369005.1	+	4	2445	c.2105A>C	c.(2104-2106)cAg>cCg	p.Q702P	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.Q702P|TACC2_ENST00000334433.3_Missense_Mutation_p.Q702P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.Q702P|TACC2_ENST00000515603.1_Missense_Mutation_p.Q702P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	702						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACACCCTTCAGAGCAGGGAA	0.542													8	36					0	0	0	0	C	123844120	A	C	123844120	3	2	462	1	0	0	0	0	1	0	0	0	15593	188	7	5	2115	5	TACC2	10	123844120	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	35009749	123844120	11690627	103	89822											
RPLP2	6181	broad.mit.edu	37	chr11	812565	812565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgccagtgtacctgctgGtggggctgtagccgtctctg	3	12	15	11	1	1	0	0	0	1	0	2	0	1	0	3	3	4	5	3	3	2	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:812565G>T	ENST00000321153.4	+	4	597	c.203G>T	c.(202-204)gGt>gTt	p.G68V	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.G68V	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	68					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACCTGCTGGTGGGGCTGTA	0.622													20	47					8.10497e-08	8.84179e-08	1	0	T	812565	G	T	812565	3	4	462	1	0	0	0	0	1	0	0	0	13691	1261	44	4	213	4	RPLP2	11	812565	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08		812565	134193951	104	89823											
TRIM21	6737	broad.mit.edu	37	chr11	4411329	4411329	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggccttcccatctttcTcacagaacaggtgaagtctc	11	10	8	12	0	3	2	1	1	3	1	6	2	4	2	2	2	1	0	2	2	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:4411329T>A	ENST00000254436.7	-	2	423	c.311A>T	c.(310-312)gAg>gTg	p.E104V	TRIM21_ENST00000543625.1_Missense_Mutation_p.E104V	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	104					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CCCATCTTTCTCACAGAACAG	0.557													22	52					0	0	0	0	A	4411329	T	A	4411329	3	1	462	1	0	0	0	0	1	0	0	0	16590	1551	54	5	1140	5	TRIM21	11	4411329	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	3598764	4411329	130595187	105	89824											
KCNC1	3746	broad.mit.edu	37	chr11	17757969	17757969	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacgccgacggccctggCgactcgggcgacggcgagga	6	2	19	14	9	0	0	0	0	0	0	1	6	0	2	2	6	0	0	2	6	0	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:17757969C>T	ENST00000379472.3	+	1	450	c.420C>T	c.(418-420)ggC>ggT	p.G140G	KCNC1_ENST00000265969.6_Silent_p.G140G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	140						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACGGCCCTGGCGACTCGGGCG	0.726													8	10					0	0	0	0	T	17757969	C	T	17757969	2	4	462	1	0	0	0	0	0	0	0	1	8067	755	27	1		1	KCNC1	11	17757969	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	13346640	17757969	117248547	106	89825											
TP53I11	9537	broad.mit.edu	37	chr11	44959881	44959881	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgggggctgcttggcCgccatcttctcctccagccc	4	8	13	16	2	2	1	0	0	2	1	4	1	3	1	5	4	2	2	5	4	0	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:44959881C>T	ENST00000533940.1	-	5	610	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000531928.2_Silent_p.A2A|TP53I11_ENST00000525680.1_Silent_p.A2A|TP53I11_ENST00000308212.5_Silent_p.A2A|TP53I11_ENST00000395648.3_Silent_p.A2A	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	2					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						GCTGCTTGGCCGCCATCTTCT	0.667													3	14					0	0	0	0	T	44959881	C	T	44959881	2	4	462	1	0	0	0	0	0	0	0	1	16480	639	23	1		1	TP53I11	11	44959881	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	27201912	44959881	90046635	107	89826											
OR4C13	283092	broad.mit.edu	37	chr11	49974454	49974454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccatacagatcctcttCatctgtcaattacctttctg	10	14	4	13	0	5	1	2	0	3	1	6	1	6	1	3	0	3	1	3	0	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:49974454C>A	ENST00000555099.1	+	1	512	c.480C>A	c.(478-480)ttC>ttA	p.F160L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGATCCTCTTCATCTGTCAAT	0.443													47	97					4.44401e-20	5.4101e-20	1	0	A	49974454	C	A	49974454	3	1	462	1	0	0	0	0	1	0	0	0	11118	825	29	2	482	2	OR4C13	11	49974454	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	5014573	49974454	85032062	108	89827											
OR4A16	81327	broad.mit.edu	37	chr11	55111056	55111056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtggctatctctaagcCgctgcactatttgaacatca	10	13	7	11	1	2	1	1	1	1	0	3	1	2	1	1	1	3	3	1	1	5	5	rs144905099	by1000genomes	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:55111056C>T	ENST00000314721.2	+	1	430	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P127Q(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCTCTAAGCCGCTGCACTAT	0.468													60	131					0	0	0	0	T	55111056	C	T	55111056	3	4	462	1	0	0	0	0	1	0	0	0	11112	652	23	1	382	1	OR4A16	11	55111056	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	5136602	55111056	79895460	109	89828											
STIP1	10963	broad.mit.edu	37	chr11	63964770	63964770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaaaagagctggggaacGatgcctacaagaagaaagac	20	3	12	6	1	0	5	0	0	0	5	0	7	0	6	1	2	4	1	1	2	8	1	rs149913210		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:63964770G>A	ENST00000358794.5	+	6	1394	c.841G>A	c.(841-843)Gat>Aat	p.D281N	STIP1_ENST00000538945.1_Missense_Mutation_p.D210N|STIP1_ENST00000305218.4_Missense_Mutation_p.D234N			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	234					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCTGGGGAACGATGCCTACAA	0.443													11	83					0	0	0	0	A	63964770	G	A	63964770	3	1	462	1	0	0	0	0	1	0	0	0	15375	1058	37	1	722	1	STIP1	11	63964770	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	8853714	63964770	71041746	110	89829											
ADRBK1	156	broad.mit.edu	37	chr11	67049359	67049359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgacatgcgcttctatgCggccgagatcatcctgggcc	6	9	13	13	3	2	2	1	1	1	1	3	3	3	2	3	3	2	2	3	3	1	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:67049359C>T	ENST00000308595.5	+	11	1183	c.893C>T	c.(892-894)gCg>gTg	p.A298V	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A298V	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	298	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGCTTCTATGCGGCCGAGATC	0.642													4	89					0	0	0	0	T	67049359	C	T	67049359	3	4	462	1	0	0	0	0	1	0	0	0	343	768	27	1	935	1	ADRBK1	11	67049359	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	3084589	67049359	67957157	111	89830											
SHANK2	22941	broad.mit.edu	37	chr11	70336360	70336360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccaggggcaacttctgtgGgggagtgccacacttcttac	7	9	13	12	0	2	0	0	0	2	0	2	1	2	1	2	4	3	1	2	4	2	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:70336360G>T	ENST00000409530.1	-	8	804	c.805C>A	c.(805-807)Cca>Aca	p.P269T	SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.P260T|SHANK2_ENST00000409161.1_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.P270T|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000338508.4_Intron			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AACTTCTGTGGGGGAGTGCCA	0.587													20	164					1.33834e-09	1.4923e-09	1	0	T	70336360	G	T	70336360	3	4	462	1	0	0	0	0	1	0	0	0	14353	1247	43	4		4	SHANK2	11	70336360	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	3287001	70336360	64670156	112	89831											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293728	71293728	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccacagctggagcaggaAcaggctggcacacagcagca	13	2	14	12	0	0	0	0	0	0	0	0	3	0	2	1	4	6	6	1	4	1	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:71293728A>G	ENST00000398530.1	-	1	193	c.156T>C	c.(154-156)tgT>tgC	p.C52C	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	52	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGGAGCAGGAACAGGCTGGCA	0.652													66	372					0	0	0	0	G	71293728	A	G	71293728	2	3	462	1	0	0	0	0	0	0	0	1	8613	41	2	5		5	KRTAP5-11	11	71293728	Silent	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	957368	71293728	63712788	113	89832											
CHORDC1	26973	broad.mit.edu	37	chr11	89935704	89935704	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcatagttacataacttcGctttacatcaatcacctgta	13	14	4	10	1	3	0	3	0	0	0	4	0	3	0	1	0	3	3	1	0	6	7			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:89935704G>A	ENST00000529726.1	-	4	4217	c.304C>T	c.(304-306)Cga>Tga	p.R102*	CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.R271*|CHORDC1_ENST00000320585.6_Nonsense_Mutation_p.R290*|CHORDC1_ENST00000529987.1_Nonsense_Mutation_p.R102*			Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	290	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				ACATAACTTCGCTTTACATCA	0.383													10	54					0	0	0	0	A	89935704	G	A	89935704	4	1	462	1	0	0	0	0	0	1	0	0	3394	1095	38	1	134	1	CHORDC1	11	89935704	Nonsense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	18641976	89935704	45070812	114	89833											
NPAT	4863	broad.mit.edu	37	chr11	108060031	108060031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctttctctgccgtttgaTttctgcaattccagttctcg	6	17	7	11	2	3	1	0	1	3	0	6	1	4	1	2	0	3	4	2	0	2	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:108060031T>C	ENST00000278612.8	-	6	463	c.358A>G	c.(358-360)Atc>Gtc	p.I120V		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	120	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGCCGTTTGATTTCTGCAATT	0.423													46	62					0	0	0	0	C	108060031	T	C	108060031	3	2	462	1	0	0	0	0	1	0	0	0	10636	1493	52	5	3977	5	NPAT	11	108060031	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	18124327	108060031	26946485	115	89834											
NNMT	4837	broad.mit.edu	37	chr11	114182871	114182871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccgtccccttaccccCggctgactgcgtgctcagca	4	7	13	17	3	1	1	1	1	0	0	2	1	2	1	5	3	4	3	5	3	1	1	rs72559741		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:114182871C>T	ENST00000535401.1	+	5	731	c.467C>T	c.(466-468)cCg>cTg	p.P156L	NNMT_ENST00000299964.3_Missense_Mutation_p.P156L|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	156					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCCTTACCCCCGGCTGACTGC	0.627													22	34					0	0	0	0	T	114182871	C	T	114182871	3	4	462	1	0	0	0	0	1	0	0	0	10579	652	23	1	477	1	NNMT	11	114182871	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	6122840	114182871	20823645	116	89835											
ROBO3	64221	broad.mit.edu	37	chr11	124749214	124749214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccccagtcctgcccCtagcacagccagcagtgccc	7	5	8	21	0	1	0	1	0	0	0	2	0	2	0	8	0	6	2	8	0	1	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:124749214C>T	ENST00000397801.1	+	24	3854	c.3662C>T	c.(3661-3663)cCt>cTt	p.P1221L	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.P1199L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1221					axon midline choice point recognition	integral to membrane	receptor activity			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)		AGTCCTGCCCCTAGCACAGCC	0.632													3	6					0	0	0	0	T	124749214	C	T	124749214	3	4	462	1	0	0	0	0	1	0	0	0	13600	681	24	4	3756	4	ROBO3	11	124749214	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	10566343	124749214	10257302	117	89836											
KCNJ1	3758	broad.mit.edu	37	chr11	128709573	128709573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccactcggattaggaggCaaagcttccctccccgtttg	8	10	10	13	2	0	0	0	0	0	0	3	2	2	2	4	3	2	3	4	3	3	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:128709573C>T	ENST00000392665.2	-	2	710	c.566G>A	c.(565-567)tGc>tAc	p.C189Y	KCNJ1_ENST00000392666.1_Missense_Mutation_p.C189Y|KCNJ1_ENST00000324036.3_Missense_Mutation_p.C189Y|KCNJ1_ENST00000440599.2_Missense_Mutation_p.C189Y|KCNJ1_ENST00000392664.2_Missense_Mutation_p.C208Y	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	208					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GATTAGGAGGCAAAGCTTCCC	0.502													32	64					0	0	0	0	T	128709573	C	T	128709573	3	4	462	1	0	0	0	0	1	0	0	0	8096	710	25	4	556	4	KCNJ1	11	128709573	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	3960359	128709573	6296943	118	89837											
PIK3C2G	5288	broad.mit.edu	37	chr12	18443895	18443895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctaagaccaagtttaatAtacatatttttattgataac	15	18	3	5	0	1	2	0	1	1	1	1	2	1	2	1	0	2	1	1	0	8	12			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:18443895A>G	ENST00000433979.1	+	4	984	c.868A>G	c.(868-870)Ata>Gta	p.I290V	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.I290V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I290V|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.I290V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	290					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAGTTTAATATACATATTTT	0.343													6	18					0	0	0	0	G	18443895	A	G	18443895	3	3	462	1	0	0	0	0	1	0	0	0	11983	449	16	5	878	5	PIK3C2G	12	18443895	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08		18443895	115408000	119	89838											
ERGIC2	51290	broad.mit.edu	37	chr12	29523088	29523088	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtattcatacttcatccaTgtatcttgatatactgagaa	12	16	5	8	1	3	2	2	2	1	1	5	3	4	2	1	0	2	2	1	0	6	8			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:29523088T>A	ENST00000360150.4	-	3	249	c.174A>T	c.(172-174)acA>acT	p.T58T		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	58					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ACTTCATCCATGTATCTTGAT	0.289													15	62					0	0	0	0	A	29523088	T	A	29523088	2	1	462	1	0	0	0	0	0	0	0	1	5262	1451	51	5		5	ERGIC2	12	29523088	Silent	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	11079193	29523088	104328807	120	89839											
OR6C70	390327	broad.mit.edu	37	chr12	55863563	55863563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgcagatggcaacataGcgatcataggacagagcagc	13	7	13	8	1	1	2	1	0	0	2	1	4	1	3	0	3	5	4	0	3	3	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:55863563G>A	ENST00000327335.4	-	1	359	c.360C>T	c.(358-360)cgC>cgT	p.R120R	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TGGCAACATAGCGATCATAGG	0.388													16	103					0	0	0	0	A	55863563	G	A	55863563	2	1	462	1	0	0	0	0	0	0	0	1	11268	958	34	4		4	OR6C70	12	55863563	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	26340475	55863563	77988332	121	89840											
MBD6	114785	broad.mit.edu	37	chr12	57919495	57919495	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctctcctccggccccTcatgcctcctcctcaccacc	3	9	6	23	1	3	0	2	0	1	0	7	0	6	0	9	2	1	1	9	2	0	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:57919495T>C	ENST00000355673.3	+	6	1100	c.744T>C	c.(742-744)ccT>ccC	p.P248P	MBD6_ENST00000431731.2_Silent_p.P248P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	248	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCCGGCCCCTCATGCCTCCT	0.622													4	159					0	0	0	0	C	57919495	T	C	57919495	2	2	462	1	0	0	0	0	0	0	0	1	9417	1538	54	5		5	MBD6	12	57919495	Silent	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	2055932	57919495	75932400	122	89841											
GNS	2799	broad.mit.edu	37	chr12	65152922	65152922	+	Frame_Shift_Del	DEL	C	C	-																															agcagcaccacgttgggcctCcgggttcccgcagccacccc																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:65152922delC	ENST00000258145.3	-	1	305	c.135delG	c.(133-135)cgfs	p.R46fs	GNS_ENST00000542058.1_Frame_Shift_Del_p.R46fs|GNS_ENST00000543646.1_Frame_Shift_Del_p.R46fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	46						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CGTTGGGCCTCCGGGTTCCCG	0.697													2	4	---	---	---	---					-	65152922	C	-	65152922	7	5	462	1	0	1	0	1	0	0	0	0	6601	842	30	0	1579	0	GNS	12	65152922	Frame_Shift_Del	DEL	C	TCGA-P3-A6SX-01A-11D-A34J-08	7233427	65152922	68698973	123	89842											
SLC41A2	84102	broad.mit.edu	37	chr12	105255129	105255129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggtctgatacagttgtgtCcagaataaggcccccaatgc	10	10	11	10	0	1	2	0	1	1	1	2	2	2	2	3	2	2	1	3	2	4	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:105255129C>T	ENST00000258538.3	-	7	1322	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	399						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ACAGTTGTGTCCAGAATAAGG	0.353													4	71					0	0	0	0	T	105255129	C	T	105255129	3	4	462	1	0	0	0	0	1	0	0	0	14718	855	30	2	542	2	SLC41A2	12	105255129	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	40102207	105255129	28596766	124	89843											
ACAD10	80724	broad.mit.edu	37	chr12	112182723	112182723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcctctctccacctgtcaGagagctgtatcaccggctga	8	9	10	14	1	3	2	2	1	1	1	5	4	4	2	4	1	2	3	4	1	1	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:112182723G>C	ENST00000455480.2	+	14	2261	c.2084G>C	c.(2083-2085)aGa>aCa	p.R695T	ACAD10_ENST00000549590.1_Missense_Mutation_p.R664T|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.R266T|ACAD10_ENST00000313698.4_Missense_Mutation_p.R664T	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	664							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCACCTGTCAGAGAGCTGTAT	0.582													17	117					0	0	0	0	C	112182723	G	C	112182723	3	2	462	1	0	0	0	0	1	0	0	0	108	942	33	2	2134	2	ACAD10	12	112182723	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	6927594	112182723	21669172	125	89844											
C12orf43	64897	broad.mit.edu	37	chr12	121442181	121442181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcaacttccttttcttCtttgcctccttctccactgt	3	22	2	14	0	4	0	1	0	3	0	7	0	6	0	4	0	2	0	4	0	1	8			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:121442181C>G	ENST00000445832.3	-	6	576	c.474G>C	c.(472-474)aaG>aaC	p.K158N	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000366211.2_Missense_Mutation_p.K147N|C12orf43_ENST00000537817.1_Missense_Mutation_p.K189N|C12orf43_ENST00000288757.3_Missense_Mutation_p.K188N|C12orf43_ENST00000539736.1_Missense_Mutation_p.K178N			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	188										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTTTTCTTCTTTGCCTCCT	0.597													16	110					0	0	0	0	G	121442181	C	G	121442181	3	3	462	1	0	0	0	0	1	0	0	0	1701	912	32	2	228	2	C12orf43	12	121442181	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	9259458	121442181	12409714	126	89845											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20240584	20240584	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgtaaaagaggaaattCagacatcgtacgactcgtaa	15	8	10	8	3	1	2	1	0	0	2	3	4	1	3	1	2	1	3	1	2	5	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:20240584C>G	ENST00000361479.5	+	10	2107	c.2039C>G	c.(2038-2040)tCa>tGa	p.S680*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.S680*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	680					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AGAGGAAATTCAGACATCGTA	0.438													26	135					0	0	0	0	G	20240584	C	G	20240584	4	3	462	1	0	0	0	0	0	1	0	0	9797	838	29	2	2077	2	MPHOSPH8	13	20240584	Nonsense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		20240584	94929294	127	89846											
ATP8A2	51761	broad.mit.edu	37	chr13	26114470	26114470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttagtgaacctcaggcaAtgtgttatgttgaaacagct	11	13	9	8	0	1	2	1	2	0	0	2	2	2	2	2	1	3	4	2	1	5	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:26114470A>G	ENST00000381655.2	+	8	737	c.595A>G	c.(595-597)Atg>Gtg	p.M199V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.M159V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	159					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACCTCAGGCAATGTGTTATGT	0.388													15	78					0	0	0	0	G	26114470	A	G	26114470	3	3	462	1	0	0	0	0	1	0	0	0	1197	101	4	5	625	5	ATP8A2	13	26114470	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	5873886	26114470	89055408	128	89847											
USP12	219333	broad.mit.edu	37	chr13	27669839	27669839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttattattttcattatcaaTattaccattaggtaaacgac	14	17	4	6	1	2	0	2	0	0	0	2	1	2	0	1	1	2	2	1	1	9	9			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:27669839T>C	ENST00000282344.6	-	4	728	c.472A>G	c.(472-474)Att>Gtt	p.I158V		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	158					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCATTATCAATATTACCATTA	0.333													7	45					0	0	0	0	C	27669839	T	C	27669839	3	2	462	1	0	0	0	0	1	0	0	0	17139	1406	49	5	664	5	USP12	13	27669839	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	1555369	27669839	87500039	129	89848											
CDADC1	81602	broad.mit.edu	37	chr13	49865877	49865877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaggacaagaagctgcGcctcggaatccactaagaag	14	4	11	12	2	0	2	0	0	0	2	2	4	1	4	3	2	2	2	3	2	5	1	rs138113262		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:49865877G>A	ENST00000251108.6	+	10	1642	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	CDADC1_ENST00000444959.1_Missense_Mutation_p.R312H	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	510							hydrolase activity|zinc ion binding	p.R510H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AAGAAGCTGCGCCTCGGAATC	0.463													36	45					0	0	0	0	A	49865877	G	A	49865877	3	1	462	1	0	0	0	0	1	0	0	0	3082	1087	38	1	1567	1	CDADC1	13	49865877	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	22196038	49865877	65304001	130	89849											
SLITRK1	114798	broad.mit.edu	37	chr13	84455015	84455015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtcccaagggttatcctCtagcaggatctccgcaatac	10	9	9	13	1	2	0	0	0	2	0	5	1	4	1	3	2	2	4	3	2	5	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:84455015C>G	ENST00000377084.2	-	1	1513	c.628G>C	c.(628-630)Gag>Cag	p.E210Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	210						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTATCCTCTAGCAGGATC	0.557													29	37					0	0	0	0	G	84455015	C	G	84455015	3	3	462	1	0	0	0	0	1	0	0	0	14830	922	32	2	1466	2	SLITRK1	13	84455015	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	34589138	84455015	30714863	131	89850											
SLITRK6	84189	broad.mit.edu	37	chr13	86368230	86368230	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataccttccttggacgtgagTacattaatgtttccattaac	11	15	6	9	1	0	1	0	1	0	0	2	2	2	2	3	1	3	2	3	1	4	7			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:86368230T>C	ENST00000400286.2	-	2	3012	c.2414A>G	c.(2413-2415)tAc>tGc	p.Y805C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	805						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGGACGTGAGTACATTAATGT	0.398													8	113					0	0	0	0	C	86368230	T	C	86368230	3	2	462	1	0	0	0	0	1	0	0	0	14835	1638	57	5	115	5	SLITRK6	13	86368230	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	1913215	86368230	28801648	132	89851											
TMCO3	55002	broad.mit.edu	37	chr13	114152668	114152668	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaataggaagaaacagaAtatatggaacttctggcagc	18	8	10	5	0	1	3	0	1	1	2	1	5	1	5	0	3	3	1	0	3	9	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:114152668A>C	ENST00000434316.2	+	3	815	c.456A>C	c.(454-456)gaA>gaC	p.E152D	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.E152D	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	152						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AAGAAACAGAATATATGGAAC	0.333													18	39					0	0	0	0	C	114152668	A	C	114152668	3	2	462	1	0	0	0	0	1	0	0	0	16091	98	4	5	462	5	TMCO3	13	114152668	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	27784438	114152668	1017210	133	89852											
POTEG	404785	broad.mit.edu	37	chr14	19553698	19553698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactctgctatgaagacactCaggagcaagatgggcaagtg	13	7	13	8	0	2	3	1	1	1	2	2	5	2	4	0	2	2	3	0	2	4	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:19553698C>T	ENST00000409832.3	+	1	334	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	94								p.L94L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAAGACACTCAGGAGCAAGA	0.622													6	437					0	0	0	0	T	19553698	C	T	19553698	2	4	462	1	0	0	0	0	0	0	0	1	12338	813	29	2		2	POTEG	14	19553698	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		19553698	87795842	134	89853											
METTL3	56339	broad.mit.edu	37	chr14	21971933	21971933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaactgctgaagctgtGctgggcttagggccaccaga	9	8	14	10	0	1	2	1	1	0	1	1	3	1	3	2	3	4	4	2	3	3	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:21971933G>A	ENST00000298717.4	-	2	343	c.192C>T	c.(190-192)agC>agT	p.S64S	METTL3_ENST00000538267.1_Silent_p.S64S	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	64					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTGAAGCTGTGCTGGGCTTAG	0.517													147	116					0	0	0	0	A	21971933	G	A	21971933	2	1	462	1	0	0	0	0	0	0	0	1	9570	1310	46	4		4	METTL3	14	21971933	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	2418235	21971933	85377607	135	89854											
NOVA1	4857	broad.mit.edu	37	chr14	26939671	26939671	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcttatatcttgcttCatgatatccaggagatatta	10	18	5	8	0	4	2	1	1	3	1	6	3	5	2	1	1	1	1	1	1	5	8			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:26939671C>A	ENST00000344429.5	-	5	548	c.545G>T	c.(544-546)tGa>tTa	p.*182L	NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Intron|NOVA1_ENST00000539517.2_Intron	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	0	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			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)		TATCTTGCTTCATGATATCCA	0.264													23	162					3.08376e-08	3.37873e-08	1	0	A	26939671	C	A	26939671	4	1	462	1	0	0	0	0	0	0	0	0	10624	837	29	2	1013	2	NOVA1	14	26939671	Nonstop_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	4967738	26939671	80409869	136	89855											
WDHD1	11169	broad.mit.edu	37	chr14	55411049	55411049	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcggcacaattatccttaCctttctttcttcagttgaca	8	17	4	12	1	4	1	1	1	3	0	6	1	5	1	2	1	1	2	2	1	3	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:55411049C>T	ENST00000360586.3	-	25	3255		c.e25+1		WDHD1_ENST00000420358.2_Splice_Site|WDHD1_ENST00000421192.1_Splice_Site|WDHD1_ENST00000359167.4_Splice_Site	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1							cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATTATCCTTACCTTTCTTTCT	0.338													86	79					0	0	0	0	T	55411049	C	T	55411049	5	4	462	1	0	0	0	0	0	0	1	0	17367	521	18	4	207	4	WDHD1	14	55411049	Splice_Site	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	28471378	55411049	51938491	137	89856											
C14orf37	145407	broad.mit.edu	37	chr14	58605500	58605500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcctgactttcagttgCaaatgattgattatccatat	10	17	5	9	0	1	3	1	3	0	0	4	3	4	3	3	0	1	2	3	0	3	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:58605500C>T	ENST00000267485.7	-	2	771	c.577G>A	c.(577-579)Gca>Aca	p.A193T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	193						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTTCAGTTGCAAATGATTGA	0.383													13	172					0	0	0	0	T	58605500	C	T	58605500	3	4	462	1	0	0	0	0	1	0	0	0	1783	710	25	4	1775	4	C14orf37	14	58605500	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	3194451	58605500	48744040	138	89857											
HIF1A	3091	broad.mit.edu	37	chr14	62213681	62213681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagactgctggggcaatcaAtggatgaaagtggattacca	13	9	13	6	0	1	2	1	1	0	1	1	4	1	4	1	4	2	3	1	4	5	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:62213681A>G	ENST00000394997.1	+	15	2627	c.2362A>G	c.(2362-2364)Atg>Gtg	p.M788V	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_3'UTR|HIF1A_ENST00000539097.1_Missense_Mutation_p.M811V|HIF1A_ENST00000337138.4_Missense_Mutation_p.M787V|HIF1A_ENST00000557538.1_Missense_Mutation_p.M728V			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	787	CTAD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GGGGCAATCAATGGATGAAAG	0.378													22	163					0	0	0	0	G	62213681	A	G	62213681	3	3	462	1	0	0	0	0	1	0	0	0	7153	101	4	5	2417	5	HIF1A	14	62213681	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	3608181	62213681	45135859	139	89858											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152220	72152220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcattcacctcaagtcccGtcccaggtgcagagtcccat	8	9	7	17	1	3	1	3	0	0	1	6	1	6	1	5	1	1	1	5	1	1	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:72152220G>A	ENST00000555818.1	+	10	3594	c.3246G>A	c.(3244-3246)ccG>ccA	p.P1082P	SIPA1L1_ENST00000537413.1_Silent_p.P557P|SIPA1L1_ENST00000358550.2_Silent_p.P1082P|SIPA1L1_ENST00000381232.3_Silent_p.P1082P	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1082					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCAAGTCCCGTCCCAGGTGC	0.512													20	97					0	0	0	0	A	72152220	G	A	72152220	2	1	462	1	0	0	0	0	0	0	0	1	14417	1132	40	1		1	SIPA1L1	14	72152220	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	9938539	72152220	35197320	140	89859											
GSTZ1	2954	broad.mit.edu	37	chr14	77793842	77793842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggacttccaggcactgaatCctatgaagcaggtgccaacc	12	7	10	12	0	0	2	0	2	0	0	2	3	2	3	4	3	3	2	4	3	4	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:77793842C>T	ENST00000216465.5	+	4	448	c.163C>T	c.(163-165)Cct>Tct	p.P55S	GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000556627.1_Intron|GSTZ1_ENST00000349555.3_Missense_Mutation_p.P55S|GSTZ1_ENST00000553586.1_Missense_Mutation_p.P56S|GSTZ1_ENST00000554279.1_Missense_Mutation_p.P55S|GSTZ1_ENST00000557639.1_5'UTR	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	55	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GGCACTGAATCCTATGAAGCA	0.577													12	45					0	0	0	0	T	77793842	C	T	77793842	3	4	462	1	0	0	0	0	1	0	0	0	6898	855	30	2	177	2	GSTZ1	14	77793842	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	5641622	77793842	29555698	141	89860											
RTL1	388015	broad.mit.edu	37	chr14	101350712	101350712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgattccttcaggtcagtGtgagcctcttgttcttctcg	4	15	9	13	2	5	1	2	1	3	0	7	2	6	1	3	1	1	1	3	1	0	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:101350712G>T	ENST00000534062.1	-	1	472	c.414C>A	c.(412-414)caC>caA	p.H138Q		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	138										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCAGGTCAGTGTGAGCCTCTT	0.537													23	9					1.50039e-11	1.71085e-11	1	0	T	101350712	G	T	101350712	3	4	462	1	0	0	0	0	1	0	0	0	13809	1368	48	4	3666	4	RTL1	14	101350712	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	23556870	101350712	5998828	142	89861											
RYR3	6263	broad.mit.edu	37	chr15	33926849	33926849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactggatgagcgtaccaaGaagtcaaacagggacagcct	14	7	11	9	1	1	2	1	1	0	1	1	4	1	4	2	2	5	1	2	2	5	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:33926849G>C	ENST00000389232.4	+	25	3160	c.3090G>C	c.(3088-3090)aaG>aaC	p.K1030N	RYR3_ENST00000415757.3_Missense_Mutation_p.K1030N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1030	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCGTACCAAGAAGTCAAACA	0.458													37	87					0	0	0	0	C	33926849	G	C	33926849	3	2	462	1	0	0	0	0	1	0	0	0	13855	933	33	2	3188	2	RYR3	15	33926849	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08		33926849	68604543	143	89862											
FBN1	2200	broad.mit.edu	37	chr15	48826281	48826281	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataagatttcttaccttcAcatttttgtgacacttcatt	10	18	4	9	0	3	2	2	1	1	1	3	2	3	2	1	0	1	1	1	0	2	8			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:48826281A>T	ENST00000316623.5	-	8	1313	c.858T>A	c.(856-858)tgT>tgA	p.C286*		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	286	EGF-like 4; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTACCTTCACATTTTTGTG	0.428													164	365					0	0	0	0	T	48826281	A	T	48826281	4	4	462	1	0	0	0	0	0	1	0	0	5747	157	6	5	7993	5	FBN1	15	48826281	Nonsense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	14899432	48826281	53705111	144	89863											
UNC13C	440279	broad.mit.edu	37	chr15	54586205	54586205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagatgattttctgggaCaaacaattgtagaagtgagg	14	11	12	4	0	2	4	1	2	1	2	2	5	2	5	0	2	1	1	0	2	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:54586205C>A	ENST00000545554.1	+	10	3931	c.3931C>A	c.(3931-3933)Caa>Aaa	p.Q1311K	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1311K|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1309K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1311	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTCTGGGACAAACAATTGT	0.353													47	116					3.37225e-12	3.86276e-12	1	0	A	54586205	C	A	54586205	3	1	462	1	0	0	0	0	1	0	0	0	17082	479	17	4	3965	4	UNC13C	15	54586205	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	5759924	54586205	47945187	145	89864											
VPS13C	54832	broad.mit.edu	37	chr15	62148536	62148536	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactaggaggaaatacaaaAtcttcaaatggacattgcca	18	8	7	8	0	2	0	1	0	1	0	2	3	2	3	1	3	2	0	1	3	6	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:62148536A>T	ENST00000261517.5	-	83	11098	c.11025T>A	c.(11023-11025)gaT>gaA	p.D3675E	VPS13C_ENST00000249837.3_Missense_Mutation_p.D3632E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3675					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAATACAAAATCTTCAAATG	0.348													22	66					0	0	0	0	T	62148536	A	T	62148536	3	4	462	1	0	0	0	0	1	0	0	0	17287	98	4	5	248	5	VPS13C	15	62148536	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	7562331	62148536	40382856	146	89865											
CILP	8483	broad.mit.edu	37	chr15	65489297	65489297	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagggctactcccacattGctcttcatgattctggagga	8	12	11	10	0	3	2	1	2	2	0	4	4	4	4	1	3	2	2	1	3	1	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:65489297G>A	ENST00000261883.4	-	9	3493	c.3327C>T	c.(3325-3327)agC>agT	p.S1109S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1109					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTCCCACATTGCTCTTCATGA	0.592													13	47					0	0	0	0	A	65489297	G	A	65489297	2	1	462	1	0	0	0	0	0	0	0	1	3458	1310	46	4		4	CILP	15	65489297	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	3340761	65489297	37042095	147	89866											
DIS3L	115752	broad.mit.edu	37	chr15	66618320	66618320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaagcgttgttgatgatAttccagaattcaaagacttg	13	14	8	6	1	1	4	1	2	0	2	2	4	2	4	1	0	1	2	1	0	4	7			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:66618320A>T	ENST00000319194.5	+	12	1831	c.1570A>T	c.(1570-1572)Att>Ttt	p.I524F	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_3'UTR|DIS3L_ENST00000319212.4_Missense_Mutation_p.I607F	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	607					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTTGATGATATTCCAGAATT	0.453													44	97					0	0	0	0	T	66618320	A	T	66618320	3	4	462	1	0	0	0	0	1	0	0	0	4573	449	16	5	1865	5	DIS3L	15	66618320	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	1129023	66618320	35913072	148	89867											
NTRK3	4916	broad.mit.edu	37	chr15	88679771	88679771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgatccagagccattgCaagtgataacagcgttgtca	11	9	13	8	1	1	3	1	2	0	1	2	3	2	3	2	2	4	2	2	2	2	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:88679771C>A	ENST00000394480.1	-	8	1013	c.692G>T	c.(691-693)tGc>tTc	p.C231F	NTRK3_ENST00000540489.2_Missense_Mutation_p.C231F|NTRK3_ENST00000557856.1_Missense_Mutation_p.C231F|NTRK3_ENST00000360948.2_Missense_Mutation_p.C231F|NTRK3_ENST00000357724.2_Missense_Mutation_p.C231F|NTRK3_ENST00000317501.3_Missense_Mutation_p.C231F|NTRK3_ENST00000558676.1_Missense_Mutation_p.C231F|NTRK3_ENST00000542733.2_Missense_Mutation_p.C133F|NTRK3_ENST00000355254.2_Missense_Mutation_p.C231F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	231	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGCCATTGCAAGTGATAAC	0.552			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			13	19					2.27111e-07	2.45631e-07	1	0	A	88679771	C	A	88679771	3	1	462	1	0	0	0	0	1	0	0	0	10779	710	25	4	2141	4	NTRK3	15	88679771	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	22061451	88679771	13851621	149	89868											
NHLRC4	283948	broad.mit.edu	37	chr16	618295	618295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctgggccacccatctGcctggtgtcagaggggcttg	4	8	16	13	1	2	1	1	0	1	1	2	1	2	1	4	5	1	2	4	5	0	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:618295G>T	ENST00000424439.2	+	2	905	c.248G>T	c.(247-249)tGc>tTc	p.C83F	NHLRC4_ENST00000540585.1_Missense_Mutation_p.C83F|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	83																	CCACCCATCTGCCTGGTGTCA	0.637													9	14					0.335167	0.337849	1	0	T	618295	G	T	618295	3	4	462	1	0	0	0	0	1	0	0	0	10478	1319	46	4	250	4	NHLRC4	16	618295	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08		618295	89736458	150	89869											
ABCC6	368	broad.mit.edu	37	chr16	16259677	16259677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaccaatgggtgtccgctCaaagaagctgatgggagatc	11	8	14	8	1	1	4	1	2	0	2	3	5	2	4	2	2	1	2	2	2	3	0	rs72664230		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:16259677C>G	ENST00000205557.7	-	23	3138	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1037	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGTGTCCGCTCAAAGAAGCTG	0.592													17	119					0	0	0	0	G	16259677	C	G	16259677	3	3	462	1	0	0	0	0	1	0	0	0	57	835	29	2	1438	2	ABCC6	16	16259677	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	15641382	16259677	74095076	151	89870											
THUMPD1	55623	broad.mit.edu	37	chr16	20748523	20748523	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacaacactcaggcaacaGacagctttgatgatttctac	13	11	6	11	0	3	3	2	2	1	1	3	3	3	3	0	1	4	2	0	1	3	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:20748523G>A	ENST00000381337.2	-	4	1085	c.741C>T	c.(739-741)gtC>gtT	p.V247V	THUMPD1_ENST00000396083.2_Silent_p.V247V|THUMPD1_ENST00000431224.2_Silent_p.V333V	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	247	THUMP.									NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TCAGGCAACAGACAGCTTTGA	0.413													46	94					0	0	0	0	A	20748523	G	A	20748523	2	1	462	1	0	0	0	0	0	0	0	1	15976	929	33	2		2	THUMPD1	16	20748523	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	4488846	20748523	69606230	152	89871											
SLC12A4	6560	broad.mit.edu	37	chr16	67979053	67979053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggagaaccaggcgggcgtCgtgggagcgcgtgacaatga	10	5	18	8	5	0	3	0	2	0	1	1	5	0	4	1	4	2	0	1	4	3	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:67979053C>T	ENST00000422611.2	-	22	3148	c.3109G>A	c.(3109-3111)Gac>Aac	p.D1037N	SLC12A4_ENST00000576616.1_Missense_Mutation_p.D1035N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D1004N|SLC12A4_ENST00000316341.3_Missense_Mutation_p.D1035N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.D1029N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D987N|SLC12A4_ENST00000338335.3_3'UTR	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1035					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGCGGGCGTCGTGGGAGCGC	0.587													25	34					0	0	0	0	T	67979053	C	T	67979053	3	4	462	1	0	0	0	0	1	0	0	0	14473	884	31	1	162	1	SLC12A4	16	67979053	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	47230530	67979053	22375700	153	89872											
OR3A3	8392	broad.mit.edu	37	chr17	3324328	3324328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggatgttggtggctgCgtcctgggcttgtgccttca	4	12	15	10	1	1	1	1	0	0	1	2	2	2	2	3	4	2	3	3	4	0	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:3324328C>A	ENST00000291231.1	+	1	467	c.467C>A	c.(466-468)gCg>gAg	p.A156E		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TTGGTGGCTGCGTCCTGGGCT	0.592													58	91					8.3131e-28	1.02691e-27	1	0	A	3324328	C	A	3324328	3	1	462	1	0	0	0	0	1	0	0	0	11110	768	27	3	469	3	OR3A3	17	3324328	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		3324328	77870882	154	89873											
ENO3	2027	broad.mit.edu	37	chr17	4859307	4859307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcctctcgggggtgaaCatccagattgtgggggatga	7	11	14	9	1	1	3	0	2	1	1	5	4	4	4	3	4	1	0	3	4	1	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:4859307C>T	ENST00000323997.6	+	9	1068	c.936C>T	c.(934-936)aaC>aaT	p.N312N	ENO3_ENST00000518175.1_Silent_p.N312N|ENO3_ENST00000519584.1_Silent_p.N269N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	312					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CGGGGGTGAACATCCAGATTG	0.577													13	83					0	0	0	0	T	4859307	C	T	4859307	2	4	462	1	0	0	0	0	0	0	0	1	5161	477	17	4		4	ENO3	17	4859307	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	1534979	4859307	76335903	155	89874											
TP53	7157	broad.mit.edu	37	chr17	7578441	7578441	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgtgctgtgactgcttGtagatggccatggcgcggac	6	11	15	9	2	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:7578441G>C	ENST00000420246.2	-	5	621	c.489C>G	c.(487-489)taC>taG	p.Y163*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Y163*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y163*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y163*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y163*(7)|p.Y163Y(3)|p.Y163fs*1(2)|p.V157_C176del20(1)|p.I162_Y163delIY(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(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)		GTGACTGCTTGTAGATGGCCA	0.622		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)			41	39					0	0	0	0	C	7578441	G	C	7578441	4	2	462	1	0	0	0	0	0	1	0	0	16476	1372	48	4	809	4	TP53	17	7578441	Nonsense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	2719134	7578441	73616769	156	89875											
PFAS	5198	broad.mit.edu	37	chr17	8158955	8158955	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggaacccctcaatggccctAtcaatatactgggtgagggc	10	8	11	12	1	2	1	2	1	0	0	2	2	2	2	3	4	2	0	3	4	6	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:8158955A>G	ENST00000314666.6	+	5	653	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	174					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			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)	CAATGGCCCTATCAATATACT	0.597													18	23					0	0	0	0	G	8158955	A	G	8158955	3	3	462	1	0	0	0	0	1	0	0	0	11826	449	16	5	534	5	PFAS	17	8158955	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	580514	8158955	73036255	157	89876											
DNAH9	1770	broad.mit.edu	37	chr17	11592934	11592934	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgccaggcacatcgagatCcagcagatggaatccactat	13	7	10	11	1	0	2	0	0	0	2	3	5	2	3	3	2	2	2	3	2	2	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:11592934C>A	ENST00000262442.3	+	20	3863	c.3795C>A	c.(3793-3795)atC>atA	p.I1265I	DNAH9_ENST00000454412.2_Silent_p.I1265I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1265	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCGAGATCCAGCAGATGG	0.498													53	100					5.57489e-27	6.85304e-27	1	0	A	11592934	C	A	11592934	2	1	462	1	0	0	0	0	0	0	0	1	4644	845	30	2		2	DNAH9	17	11592934	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	3433979	11592934	69602276	158	89877											
LIG3	3980	broad.mit.edu	37	chr17	33321376	33321376	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatcaagtacgatggagagCgagtccaggtgcataagaat	15	7	13	6	2	1	3	1	0	0	3	2	6	2	3	1	2	3	2	1	2	4	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:33321376C>T	ENST00000378526.4	+	9	1670	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	LIG3_ENST00000262327.5_Nonsense_Mutation_p.R513*	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	513					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGATGGAGAGCGAGTCCAGGT	0.527								Other BER factors					15	64					0	0	0	0	T	33321376	C	T	33321376	4	4	462	1	0	0	0	0	0	1	0	0	8836	760	27	1	1567	1	LIG3	17	33321376	Nonsense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	21728442	33321376	47873834	159	89878											
MYO19	80179	broad.mit.edu	37	chr17	34863272	34863272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcagatgctgatggggcttCcctcaatgagatccaaacag	12	8	11	10	0	1	3	1	2	0	2	3	4	3	3	2	2	3	3	2	2	2	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:34863272C>T	ENST00000431794.3	-	16	1955	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	478	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GATGGGGCTTCCCTCAATGAG	0.522													14	54					0	0	0	0	T	34863272	C	T	34863272	3	4	462	1	0	0	0	0	1	0	0	0	10137	855	30	2	1523	2	MYO19	17	34863272	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	1541896	34863272	46331938	160	89879											
WIPF2	147179	broad.mit.edu	37	chr17	38433395	38433395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcctgctccagaagaatAtaaacactttcagaggatat	14	12	6	9	0	1	3	1	0	0	3	3	4	3	4	2	1	2	1	2	1	6	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:38433395A>G	ENST00000323571.4	+	7	1481	c.1241A>G	c.(1240-1242)tAt>tGt	p.Y414C	WIPF2_ENST00000536600.1_Missense_Mutation_p.Y156C|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.Y414C|WIPF2_ENST00000394103.3_Missense_Mutation_p.Y156C|WIPF2_ENST00000583130.1_Missense_Mutation_p.Y414C	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	414						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCAGAAGAATATAAACACTTT	0.348										HNSCC(43;0.11)			26	117					0	0	0	0	G	38433395	A	G	38433395	3	3	462	1	0	0	0	0	1	0	0	0	17464	449	16	5	1263	5	WIPF2	17	38433395	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	3570123	38433395	42761815	161	89880											
KRT35	3886	broad.mit.edu	37	chr17	39637100	39637100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccaaaccagcccccacCcccactgtagctggtagcga	9	5	7	20	1	0	0	0	0	0	0	1	1	1	0	7	1	4	3	7	1	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:39637100C>T	ENST00000246639.2	-	1	292	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	KRT35_ENST00000393989.1_Missense_Mutation_p.G84S			Q92764	KRT35_HUMAN	keratin 35	84	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CAGCCCCCACCCCCACTGTAG	0.637													24	51					0	0	0	0	T	39637100	C	T	39637100	3	4	462	1	0	0	0	0	1	0	0	0	8524	623	22	4	1145	4	KRT35	17	39637100	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	1203705	39637100	41558110	162	89881											
CDC27	996	broad.mit.edu	37	chr17	45234324	45234324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtcctcctaataaacttCgaccagtttttggtttattt	8	18	6	9	1	0	0	0	0	0	0	3	1	2	0	3	2	1	2	3	2	4	8			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:45234324C>T	ENST00000066544.3	-	7	890	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q|CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAATAAACTTCGACCAGTTTT	0.358													4	69					0	0	0	0	T	45234324	C	T	45234324	3	4	462	1	0	0	0	0	1	0	0	0	3095	884	31	1	1747	1	CDC27	17	45234324	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	5597224	45234324	35960886	163	89882											
HELZ	9931	broad.mit.edu	37	chr17	65105671	65105671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggattgcatactgtgcGtggggagcaggaaggggaag	10	8	19	4	1	0	0	0	0	0	0	0	4	0	4	0	6	4	2	0	6	4	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:65105671G>A	ENST00000358691.5	-	29	4216	c.4050C>T	c.(4048-4050)caC>caT	p.H1350H	HELZ_ENST00000580168.1_Silent_p.H1351H	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CATACTGTGCGTGGGGAGCAG	0.483													29	49					0	0	0	0	A	65105671	G	A	65105671	2	1	462	1	0	0	0	0	0	0	0	1	7099	1136	40	1		1	HELZ	17	65105671	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	19871347	65105671	16089539	164	89883											
CCDC40	55036	broad.mit.edu	37	chr17	78024020	78024020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaaggaggaggagcTgcaggccgcccgcgctctct	8	4	16	13	3	1	1	0	0	1	1	2	4	1	4	2	5	2	4	2	5	1	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:78024020T>A	ENST00000397545.4	+	7	1124	c.1097T>A	c.(1096-1098)cTg>cAg	p.L366Q	CCDC40_ENST00000374877.3_Missense_Mutation_p.L366Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.L366Q|CCDC40_ENST00000374876.4_Missense_Mutation_p.L366Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	366					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				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)			GAGGAGGAGCTGCAGGCCGCC	0.652													3	11					0	0	0	0	A	78024020	T	A	78024020	3	1	462	1	0	0	0	0	1	0	0	0	2838	1580	55	5	1123	5	CCDC40	17	78024020	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	12918349	78024020	3171190	165	89884											
HEXDC	284004	broad.mit.edu	37	chr17	80377699	80377699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggttccactccatttcaGatgagattagttcatttaga	11	15	7	8	0	3	3	3	1	0	3	5	4	5	3	2	1	0	2	2	1	2	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:80377699G>A	ENST00000337014.6	+	2	498	c.24G>A	c.(22-24)caG>caA	p.Q8Q	HEXDC_ENST00000327949.9_Silent_p.Q8Q|HEXDC_ENST00000577944.1_Silent_p.Q8Q	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	8					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTCCATTTCAGATGAGATTAG	0.428													7	53					0	0	0	0	A	80377699	G	A	80377699	2	1	462	1	0	0	0	0	0	0	0	1	7125	933	33	2		2	HEXDC	17	80377699	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	2353679	80377699	817511	166	89885											
CEP192	55125	broad.mit.edu	37	chr18	13095538	13095538	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaaacatggtggcaacgtCtctttggatgttttaccagt	9	13	12	7	1	1	0	0	0	1	0	2	2	1	2	1	4	3	2	1	4	3	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:13095538C>G	ENST00000506447.1	+	35	6371	c.6291C>G	c.(6289-6291)gtC>gtG	p.V2097V	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.V1501V|CEP192_ENST00000430049.2_Silent_p.V1622V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1692										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGCAACGTCTCTTTGGATG	0.468													55	139					0	0	0	0	G	13095538	C	G	13095538	2	3	462	1	0	0	0	0	0	0	0	1	3280	900	32	2		2	CEP192	18	13095538	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		13095538	64981710	167	89886											
SLC14A1	6563	broad.mit.edu	37	chr18	43310271	43310271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccttccctcaaggagccaGaggaagagatagccatggag	12	6	13	10	0	1	2	1	0	0	2	3	6	3	5	4	3	2	0	4	3	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:43310271G>C	ENST00000436407.3	+	2	701	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	SLC14A1_ENST00000321925.4_5'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000586142.1_5'UTR|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E52Q	NM_001146037.1	NP_001139509.1	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CAAGGAGCCAGAGGAAGAGAT	0.527													15	40					0	0	0	0	C	43310271	G	C	43310271	3	2	462	1	0	0	0	0	1	0	0	0	14484	943	33	2	160	2	SLC14A1	18	43310271	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	30214733	43310271	34766977	168	89887											
DSEL	92126	broad.mit.edu	37	chr18	65178269	65178269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagatgttttcaattaGtttaatttcatctctaggca	11	16	6	8	0	3	1	2	0	1	1	4	1	3	1	1	1	1	4	1	1	4	7			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:65178269G>T	ENST00000310045.7	-	2	5080	c.3607C>A	c.(3607-3609)Cta>Ata	p.L1203I	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1193						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTCAATTAGTTTAATTTCA	0.373													28	71					3.65163e-15	4.34061e-15	1	0	T	65178269	G	T	65178269	3	4	462	1	0	0	0	0	1	0	0	0	4811	1020	36	4	65	4	DSEL	18	65178269	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	21867998	65178269	12898979	169	89888											
DSEL	92126	broad.mit.edu	37	chr18	65178364	65178364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtaaaaaaggtttgtagagGtggcaaacaatatttggttt	14	13	12	2	0	0	1	0	0	0	1	0	1	0	1	0	5	1	5	0	5	7	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:65178364G>T	ENST00000310045.7	-	2	4985	c.3512C>A	c.(3511-3513)aCc>aAc	p.T1171N	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1161						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTTGTAGAGGTGGCAAACAA	0.343													20	61					1.2644e-06	1.35587e-06	1	0	T	65178364	G	T	65178364	3	4	462	1	0	0	0	0	1	0	0	0	4811	1261	44	4	160	4	DSEL	18	65178364	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	95	65178364	12898884	170	89889											
ZNF516	9658	broad.mit.edu	37	chr18	74091089	74091089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggggaggtagaggaggaGcgcccccttcgccctttgca	6	6	16	13	4	0	1	0	0	0	1	1	4	0	4	3	5	2	2	3	5	1	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:74091089G>C	ENST00000443185.2	-	4	3298	c.2981C>G	c.(2980-2982)gCt>gGt	p.A994G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TAGAGGAGGAGCGCCCCCTTC	0.667													15	34					0	0	0	0	C	74091089	G	C	74091089	3	2	462	1	0	0	0	0	1	0	0	0	18055	971	34	4	527	4	ZNF516	18	74091089	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	8912725	74091089	3986159	171	89890											
S1PR4	8698	broad.mit.edu	37	chr19	3179690	3179690	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctggccgtcctcaactcGgcggtcaaccccatcatcta	7	8	8	18	3	4	0	3	0	1	0	6	0	5	0	5	3	2	0	5	3	3	1	rs139982076	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:3179690G>A	ENST00000246115.3	+	1	955	c.900G>A	c.(898-900)tcG>tcA	p.S300S		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	300					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCCTCAACTCGGCGGTCAACC	0.662													23	75					0	0	0	0	A	3179690	G	A	3179690	2	1	462	1	0	0	0	0	0	0	0	1	13881	1103	39	1		1	S1PR4	19	3179690	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08		3179690	55949293	172	89891											
MUC16	94025	broad.mit.edu	37	chr19	9009654	9009654	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgacgcatgtcctccccAtactgcagattggtgatggt	7	11	13	10	1	0	3	0	2	0	1	2	3	2	3	3	3	2	2	3	3	1	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:9009654A>T	ENST00000397910.4	-	39	39275	c.39072T>A	c.(39070-39072)taT>taA	p.Y13024*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13026	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTCCCCATACTGCAGAT	0.557													44	137					0	0	0	0	T	9009654	A	T	9009654	4	4	462	1	0	0	0	0	0	1	0	0	10043	224	8	5	4635	5	MUC16	19	9009654	Nonsense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	5829964	9009654	50119329	173	89892											
MUC16	94025	broad.mit.edu	37	chr19	9085048	9085048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagttgtcacttcagtatcaGgggagggggaaaaggagaca	13	8	15	5	0	3	1	3	0	0	1	3	4	3	3	0	5	0	2	0	5	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:9085048G>T	ENST00000397910.4	-	1	6970	c.6767C>A	c.(6766-6768)cCt>cAt	p.P2256H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2256	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCAGTATCAGGGGAGGGGGA	0.458													6	33					0.00116845	0.00120183	1	0	T	9085048	G	T	9085048	3	4	462	1	0	0	0	0	1	0	0	0	10043	1000	35	4	37092	4	MUC16	19	9085048	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	75394	9085048	50043935	174	89893											
MRI1	84245	broad.mit.edu	37	chr19	13883052	13883052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggacagccctaaccaccaCcatctcttccagggatggaa	11	6	8	16	1	1	0	0	0	1	0	3	3	2	3	6	3	2	0	6	3	2	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:13883052C>T	ENST00000319545.8	+	6	983	c.926C>T	c.(925-927)aCc>aTc	p.T309I	MRI1_ENST00000040663.6_Missense_Mutation_p.T356I|CTB-5E10.3_ENST00000586894.1_RNA	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	356					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTAACCACCACCATCTCTTCC	0.547													19	37					0	0	0	0	T	13883052	C	T	13883052	3	4	462	1	0	0	0	0	1	0	0	0	9840	507	18	4	1182	4	MRI1	19	13883052	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	4798004	13883052	45245931	175	89894											
KIAA0355	9710	broad.mit.edu	37	chr19	34843626	34843626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcccagcacgctgcccagCcccagcgcaccactctatgc	7	6	7	21	2	1	0	0	0	1	0	2	0	2	0	5	0	5	3	5	0	1	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:34843626C>T	ENST00000299505.6	+	14	3852	c.2979C>T	c.(2977-2979)agC>agT	p.S993S	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	993										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGCTGCCCAGCCCCAGCGCAC	0.587													37	53					0	0	0	0	T	34843626	C	T	34843626	2	4	462	1	0	0	0	0	0	0	0	1	8221	738	26	4		4	KIAA0355	19	34843626	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	20960574	34843626	24285357	176	89895											
FOXA3	3171	broad.mit.edu	37	chr19	46375995	46375995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgaccaccacccccgcGgccacagtcacctccccgcc	6	3	7	25	4	1	0	1	0	0	0	3	1	2	0	10	1	0	0	10	1	0	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:46375995G>A	ENST00000302177.2	+	2	929	c.732G>A	c.(730-732)gcG>gcA	p.A244A		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	244					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCACCCCCGCGGCCACAGTCA	0.692													11	3					0	0	0	0	A	46375995	G	A	46375995	2	1	462	1	0	0	0	0	0	0	0	1	6036	1103	39	1		1	FOXA3	19	46375995	Silent	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	11532369	46375995	12752988	177	89896											
ZNF614	80110	broad.mit.edu	37	chr19	52519934	52519934	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccactatgagttcgcTgatgagcaattagatagcgc	10	12	9	10	2	1	4	0	3	1	1	4	4	2	4	1	0	2	3	1	0	4	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:52519934T>A	ENST00000270649.6	-	5	1461	c.917A>T	c.(916-918)cAg>cTg	p.Q306L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATGAGTTCGCTGATGAGCAAT	0.413													5	299					0	0	0	0	A	52519934	T	A	52519934	3	1	462	1	0	0	0	0	1	0	0	0	18134	1580	55	5	844	5	ZNF614	19	52519934	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	6143939	52519934	6609049	178	89897											
ZNF8	7554	broad.mit.edu	37	chr19	58805933	58805933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaaaaagccaggtgcaGgacaaaccctacaaatgtac	17	5	7	12	0	1	0	1	0	0	0	1	1	1	1	2	2	5	2	2	2	6	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:58805933G>C	ENST00000196548.5	+	4	890	c.759G>C	c.(757-759)caG>caC	p.Q253H	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GCCAGGTGCAGGACAAACCCT	0.483													39	29					0	0	0	0	C	58805933	G	C	58805933	3	2	462	1	0	0	0	0	1	0	0	0	18260	991	35	4	773	4	ZNF8	19	58805933	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	6285999	58805933	323050	179	89898											
CPXM1	56265	broad.mit.edu	37	chr20	2776512	2776512	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggatccgcttcatccActtgattactgcccgcgttt	8	12	9	12	3	1	1	1	1	0	0	3	2	3	2	3	2	2	2	3	2	2	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:2776512A>T	ENST00000380605.2	-	11	1517	c.1453T>A	c.(1453-1455)Tgg>Agg	p.W485R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	485					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCTTCATCCACTTGATTACT	0.637													23	44					0	0	0	0	T	2776512	A	T	2776512	3	4	462	1	0	0	0	0	1	0	0	0	3867	159	6	5	767	5	CPXM1	20	2776512	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08		2776512	60249008	180	89899											
NINL	22981	broad.mit.edu	37	chr20	25484697	25484697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attcctcaagactcactttgCcgtctccgtcttgatccagt	7	14	6	14	2	4	2	2	1	2	1	7	2	6	2	4	0	1	0	4	0	1	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:25484697C>T	ENST00000278886.6	-	7	825	c.752G>A	c.(751-753)gGc>gAc	p.G251D	NINL_ENST00000422516.1_Missense_Mutation_p.G251D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	251	EF-hand 4.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACTCACTTTGCCGTCTCCGTC	0.522													4	184					0	0	0	0	T	25484697	C	T	25484697	3	4	462	1	0	0	0	0	1	0	0	0	10490	739	26	4	3468	4	NINL	20	25484697	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	22708185	25484697	37540823	181	89900											
RPRD1B	58490	broad.mit.edu	37	chr20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgcaggatctggaaaatgCcgcatcaggggatgctactg	10	10	13	8	1	2	0	1	0	1	0	2	3	2	3	1	4	4	3	1	4	3	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413													4	122					0	0	0	0	T	36687836	C	T	36687836	3	4	462	1	0	0	0	0	1	0	0	0	13701	739	26	4	587	4	RPRD1B	20	36687836	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	11203139	36687836	26337684	182	89901											
CDH4	1002	broad.mit.edu	37	chr20	60511974	60511974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcaagaagctggcggaCatgtatggaggtggtgaaga	13	8	16	4	1	1	4	1	1	0	3	1	6	1	6	0	5	1	2	0	5	4	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:60511974C>A	ENST00000360469.5	+	16	2812	c.2724C>A	c.(2722-2724)gaC>gaA	p.D908E	CDH4_ENST00000543233.1_Missense_Mutation_p.D834E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	908					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCTGGCGGACATGTATGGAG	0.607													14	29					9.31168e-06	9.85943e-06	1	0	A	60511974	C	A	60511974	3	1	462	1	0	0	0	0	1	0	0	0	3141	477	17	4	2786	4	CDH4	20	60511974	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	23824138	60511974	2513546	183	89902											
PRPF6	24148	broad.mit.edu	37	chr20	62616363	62616363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggataaaaggatggatgaaaGaagaaaagaaagacggtaaa	23	4	13	1	1	0	5	0	1	0	4	0	8	0	8	0	4	0	1	0	4	9	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:62616363G>C	ENST00000535781.1	+	3	455	c.344G>C	c.(343-345)aGa>aCa	p.R115T	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	115					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGGATGAAAGAAGAAAAGAA	0.418													10	81					0	0	0	0	C	62616363	G	C	62616363	3	2	462	1	0	0	0	0	1	0	0	0	12654	942	33	2	354	2	PRPF6	20	62616363	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	2104389	62616363	409157	184	89903											
TCEA2	6919	broad.mit.edu	37	chr20	62701612	62701612	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccttaaaacacttgcaCgcatcttccgggacgttgga	9	10	11	11	3	1	0	0	0	1	0	3	2	3	2	2	3	2	3	2	3	2	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:62701612C>T	ENST00000361317.2	+	8	878		c.e8-1		TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Splice_Site	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2						regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AACACTTGCACGCATCTTCCG	0.577											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	106					0	0	0	0	T	62701612	C	T	62701612	5	4	462	1	0	0	0	0	0	0	1	0	15762	550	19	1	543	1	TCEA2	20	62701612	Splice_Site	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	85249	62701612	323908	185	89904											
COL18A1	80781	broad.mit.edu	37	chr21	46875728	46875728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggccaggacacccccaCttctgccgagagcccggacg	9	4	12	16	3	1	2	0	0	1	2	1	5	1	4	5	3	2	0	5	3	0	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr21:46875728C>T	ENST00000359759.4	+	1	305	c.284C>T	c.(283-285)aCt>aTt	p.T95I	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.T95I			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	95					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GACACCCCCACTTCTGCCGAG	0.652													37	61					0	0	0	0	T	46875728	C	T	46875728	3	4	462	1	0	0	0	0	1	0	0	0	3705	565	20	4	400	4	COL18A1	21	46875728	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		46875728	1254167	186	89905											
RANBP1	5902	broad.mit.edu	37	chr22	20113982	20113982	+	Frame_Shift_Del	DEL	A	A	-																															gtgctttttctgtctgccagAtaaacattccagggtgctgt																										TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:20113982delA	ENST00000430524.1	+	6	1157	c.326delA	c.(325-327)gtfs	p.D109fs	RANBP1_ENST00000402752.1_Intron|RANBP1_ENST00000331821.3_Intron|SNORA77_ENST00000578179.1_RNA			P43487	RANG_HUMAN	RAN binding protein 1	0	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGTCTGCCAGATAAACATTCC	0.557													10	26	---	---	---	---					-	20113982	A	-	20113982	7	5	462	1	0	1	0	1	0	0	0	0	13107	348	12	0		0	RANBP1	22	20113982	Frame_Shift_Del	DEL	A	TCGA-P3-A6SX-01A-11D-A34J-08		20113982	31190584	187	89906											
RAB36	9609	broad.mit.edu	37	chr22	23487587	23487587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagctggatgcttggacGcgccgctgccagtccaacgc	7	7	13	14	4	0	0	0	0	0	0	1	2	1	2	3	2	5	4	3	2	2	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:23487587G>T	ENST00000263116.2	+	1	75	c.35G>T	c.(34-36)cGc>cTc	p.R12L	RAB36_ENST00000341989.4_Missense_Mutation_p.R12L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	12					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		ATGCTTGGACGCGCCGCTGCC	0.667													27	86					8.58068e-18	1.03461e-17	1	0	T	23487587	G	T	23487587	3	4	462	1	0	0	0	0	1	0	0	0	13008	1087	38	3	37	3	RAB36	22	23487587	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	3373605	23487587	27816979	188	89907											
CABIN1	23523	broad.mit.edu	37	chr22	24463031	24463031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actacaaggctgttgtgcatCtgctccgccccactttgtgc	6	12	9	14	1	1	0	0	0	1	0	2	0	2	0	3	1	4	4	3	1	2	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:24463031C>G	ENST00000398319.2	+	16	2516	c.2131C>G	c.(2131-2133)Ctg>Gtg	p.L711V	CABIN1_ENST00000263119.5_Missense_Mutation_p.L711V|CABIN1_ENST00000405822.2_Missense_Mutation_p.L661V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	711					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTTGTGCATCTGCTCCGCCC	0.547													13	107					0	0	0	0	G	24463031	C	G	24463031	3	3	462	1	0	0	0	0	1	0	0	0	2553	912	32	2	2189	2	CABIN1	22	24463031	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	975444	24463031	26841535	189	89908											
HMGXB4	10042	broad.mit.edu	37	chr22	35661485	35661485	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcccagcatcccataCgctggagcagcagcacctcc	8	6	7	20	1	0	0	0	0	0	0	4	1	4	1	6	1	5	5	6	1	1	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:35661485C>G	ENST00000216106.5	+	5	1232	c.1104C>G	c.(1102-1104)taC>taG	p.Y368*	HMGXB4_ENST00000444518.2_Nonsense_Mutation_p.Y259*	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	368					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATCCCATACGCTGGAGCAG	0.517													14	77					0	0	0	0	G	35661485	C	G	35661485	4	3	462	1	0	0	0	0	0	1	0	0	7289	547	19	3	1118	3	HMGXB4	22	35661485	Nonsense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	11198454	35661485	15643081	190	89909											
XPNPEP3	63929	broad.mit.edu	37	chr22	41277951	41277951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactttccaccaagacaacaAtttcctgtacctatgtggat	12	13	5	11	0	0	1	0	0	0	1	2	2	2	2	4	1	3	1	4	1	6	5			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:41277951A>T	ENST00000357137.4	+	3	443	c.359A>T	c.(358-360)aAt>aTt	p.N120I	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.N97I|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.N120I|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.N120I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	120					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CAAGACAACAATTTCCTGTAC	0.463													15	73					0	0	0	0	T	41277951	A	T	41277951	3	4	462	1	0	0	0	0	1	0	0	0	17540	101	4	5	369	5	XPNPEP3	22	41277951	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	5616466	41277951	10026615	191	89910											
MCAT	27349	broad.mit.edu	37	chr22	43529248	43529248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcatcgtctgctcccacTtcactggggagaccagctgc	7	9	10	15	1	2	1	1	0	1	1	4	2	3	1	2	2	4	3	2	2	0	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:43529248T>A	ENST00000290429.5	-	4	1019	c.974A>T	c.(973-975)aAg>aTg	p.K325M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	325					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CTGCTCCCACTTCACTGGGGA	0.582													124	134					0	0	0	0	A	43529248	T	A	43529248	3	1	462	1	0	0	0	0	1	0	0	0	9441	1609	56	5	202	5	MCAT	22	43529248	Missense_Mutation	SNP	T	TCGA-P3-A6SX-01A-11D-A34J-08	2251297	43529248	7775318	192	89911											
SCO2	9997	broad.mit.edu	37	chr22	50962127	50962127	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccggccgtagtaatcCgtgaagaggccgtcagggtt	7	9	14	11	4	1	2	1	1	0	1	3	2	3	2	4	3	1	4	4	3	3	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:50962127C>T	ENST00000543927.1	-	2	920	c.714G>A	c.(712-714)acG>acA	p.T238T	SCO2_ENST00000395693.3_Silent_p.T238T|SCO2_ENST00000535425.1_Silent_p.T238T|SCO2_ENST00000252785.3_Silent_p.T238T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	238	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTAGTAATCCGTGAAGAGGC	0.587													77	74					0	0	0	0	T	50962127	C	T	50962127	2	4	462	1	0	0	0	0	0	0	0	1	14019	639	23	1		1	SCO2	22	50962127	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	7432879	50962127	342439	193	89912											
MAGEB1	4112	broad.mit.edu	37	chrX	30268814	30268814	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggagctccacccaccacCactgctgctgcagctgtgtc	7	7	10	17	0	0	0	0	0	0	0	2	1	1	1	4	1	5	5	4	1	0	0			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:30268814C>A	ENST00000378981.3	+	4	525	c.204C>A	c.(202-204)acC>acA	p.T68T	MAGEB1_ENST00000397548.2_Silent_p.T68T|MAGEB1_ENST00000397550.1_Silent_p.T68T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	68										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CACCCACCACCACTGCTGCTG	0.562													3	8					1	1	1	0	A	30268814	C	A	30268814	2	1	462	1	0	0	0	0	0	0	0	1	9241	581	21	4		4	MAGEB1	23	30268814	Silent	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08		30268814	125001746	194	89913											
DMD	1756	broad.mit.edu	37	chrX	32632460	32632460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttaggtcttcaagatcaGgtccaagaggctcttcctcc	8	13	9	11	0	4	2	2	0	2	2	7	2	7	2	3	3	0	2	3	3	3	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:32632460G>A	ENST00000357033.4	-	12	1648	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	DMD_ENST00000288447.4_Missense_Mutation_p.P473L|DMD_ENST00000378677.2_Missense_Mutation_p.P477L	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	481					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			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)				TTCAAGATCAGGTCCAAGAGG	0.388													29	26					0	0	0	0	A	32632460	G	A	32632460	3	1	462	1	0	0	0	0	1	0	0	0	4617	1000	35	4	10130	4	DMD	23	32632460	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	2363646	32632460	122638100	195	89914											
KDM6A	7403	broad.mit.edu	37	chrX	44945195	44945195	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgttgttcctgaaggttaCtggggtgttctgaatgactt	6	18	12	5	0	1	3	0	3	1	0	2	3	2	3	1	3	1	4	1	3	3	6			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:44945195C>A	ENST00000377967.4	+	24	3560	c.3519C>A	c.(3517-3519)taC>taA	p.Y1173*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Y1180*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Y1094*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Y1128*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1173	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTGAAGGTTACTGGGGTGTTC	0.348			"D, N, F, S"		"renal, oesophageal SCC, MM"								35	31					9.45814e-24	1.15702e-23	1	0	A	44945195	C	A	44945195	4	1	462	1	0	0	0	0	0	1	0	0	8189	576	20	4	3613	4	KDM6A	23	44945195	Nonsense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	12312735	44945195	110325365	196	89915											
KLHL4	56062	broad.mit.edu	37	chrX	86888860	86888860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgacagtggaattacgtagCcagtatgtcaactcctagaa	14	9	9	9	2	1	1	1	0	0	1	2	3	2	2	2	1	3	2	2	1	7	4			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:86888860C>T	ENST00000373119.4	+	8	1806	c.1661C>T	c.(1660-1662)gCc>gTc	p.A554V	KLHL4_ENST00000373114.4_Missense_Mutation_p.A554V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	554						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AATTACGTAGCCAGTATGTCA	0.428													19	13					0	0	0	0	T	86888860	C	T	86888860	3	4	462	1	0	0	0	0	1	0	0	0	8443	739	26	4	1691	4	KLHL4	23	86888860	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	41943665	86888860	68381700	197	89916											
PCDH11X	27328	broad.mit.edu	37	chrX	91642806	91642806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggtggactgggagacCatgatgcaggcagccttacc	9	8	15	9	0	0	3	0	2	0	1	0	5	0	4	3	4	3	2	3	4	1	1			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:91642806C>A	ENST00000373094.1	+	5	4062	c.3217C>A	c.(3217-3219)Cat>Aat	p.H1073N	PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1036N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1073N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1063N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1036N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1063N|PCDH11X_ENST00000504220.1_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1073					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGGGAGACCATGATGCAGG	0.542													37	22					2.46787e-29	3.09405e-29	1	0	A	91642806	C	A	91642806	3	1	462	1	0	0	0	0	1	0	0	0	11579	594	21	4	3357	4	PCDH11X	23	91642806	Missense_Mutation	SNP	C	TCGA-P3-A6SX-01A-11D-A34J-08	4753946	91642806	63627754	198	89917											
COL4A5	1287	broad.mit.edu	37	chrX	107925107	107925107	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaccccaaggacctcAaggcttaccaggtaccaatg	13	5	9	14	0	1	0	1	0	0	0	1	2	1	2	6	4	2	2	6	4	5	2			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:107925107A>T	ENST00000328300.6	+	47	4449	c.4205A>T	c.(4204-4206)cAa>cTa	p.Q1402L	COL4A5_ENST00000361603.2_Missense_Mutation_p.Q1396L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1396	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAAGGACCTCAAGGCTTACCA	0.438									Alport syndrome with Diffuse Leiomyomatosis				22	12					0	0	0	0	T	107925107	A	T	107925107	3	4	462	1	0	0	0	0	1	0	0	0	3724	130	5	5	4376	5	COL4A5	23	107925107	Missense_Mutation	SNP	A	TCGA-P3-A6SX-01A-11D-A34J-08	16282301	107925107	47345453	199	89918											
TKTL1	8277	broad.mit.edu	37	chrX	153539342	153539342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcattgcccgccgagcactGcataaacatctatcagaggc	11	8	9	13	2	2	1	1	0	1	1	2	2	2	1	2	1	5	3	2	1	3	3			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:153539342G>A	ENST00000369915.3	+	4	695	c.506G>A	c.(505-507)tGc>tAc	p.C169Y	TKTL1_ENST00000369912.2_Missense_Mutation_p.C113Y|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	169					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGAGCACTGCATAAACATC	0.507													57	16					0	0	0	0	A	153539342	G	A	153539342	3	1	462	1	0	0	0	0	1	0	0	0	16029	1319	46	4	520	4	TKTL1	23	153539342	Missense_Mutation	SNP	G	TCGA-P3-A6SX-01A-11D-A34J-08	45614235	153539342	1731218	200	89919											
WDTC1	23038	broad.mit.edu	37	chr1	27609881	27609881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgattgtgtgggacccgctgCaccacaagaagctgctctcc	8	8	11	14	2	1	1	0	0	1	1	2	3	1	2	3	1	3	4	3	1	2	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:27609881C>T	ENST00000319394.3	+	5	767	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	WDTC1_ENST00000361771.3_Missense_Mutation_p.H78Y	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	78							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGACCCGCTGCACCACAAGAA	0.542													30	82					0	0	0	0	T	27609881	C	T	27609881	3	4	463	1	0	0	0	0	1	0	0	0	17438	710	25	4	246	4	WDTC1	1	27609881	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		27609881	221640740	1	89920											
ERMAP	114625	broad.mit.edu	37	chr1	43308789	43308789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaatggagatgtgtccctCaaggtgaactcttctttact	9	14	9	9	0	3	2	1	1	2	1	4	3	4	2	1	2	2	1	1	2	4	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:43308789C>T	ENST00000328249.3	+	9	2082	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000372517.2_Silent_p.L438L|RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000372514.3_Silent_p.L438L			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	438	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGTGTCCCTCAAGGTGAACT	0.517													45	93					0	0	0	0	T	43308789	C	T	43308789	2	4	463	1	0	0	0	0	0	0	0	1	5272	813	29	2		2	ERMAP	1	43308789	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	15698908	43308789	205941832	2	89921											
NOTCH2	4853	broad.mit.edu	37	chr1	120462965	120462965	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggtgctgctgtgtcCatggccgtcgatcaatgggg	6	11	14	10	2	2	0	2	0	0	0	4	1	3	0	2	4	2	2	2	4	2	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:120462965C>T	ENST00000256646.2	-	30	5585	c.5366G>A	c.(5365-5367)tGg>tAg	p.W1789*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1789					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTGTGTCCATGGCCGTCG	0.532			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				32	91					0	0	0	0	T	120462965	C	T	120462965	4	4	463	1	0	0	0	0	0	1	0	0	10618	595	21	4	2069	4	NOTCH2	1	120462965	Nonsense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	77154176	120462965	128787656	3	89922											
PEAR1	375033	broad.mit.edu	37	chr1	156873743	156873745	+	In_Frame_Del	DEL	CTT	CTT	-																															caccgcctctgtgtcccctcCttctcctggctgtgggcctg																										TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:156873743_156873745delCTT	ENST00000338302.3	+	3	250_252	c.25_27delCTT	c.(25-27)del	p.L11del	PEAR1_ENST00000292357.7_In_Frame_Del_p.L11del			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	11						integral to membrane		p.L9F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGTCCCCTCCTTCTCCTGGCTG	0.64													54	104	---	---	---	---					-	156873745	CTT	-	156873743	7	5	463	1	0	1	0	1	0	0	0	0	11783	681	24	0	27	0	PEAR1	1	156873743	In_Frame_Del	DEL	CTT	TCGA-P3-A6T0-01A-12D-A34J-08	36410778	156873743	92376878	4	89923											
LRRC52	440699	broad.mit.edu	37	chr1	165533034	165533034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaacccagacgagctcGgtccaggagttccctcagct	9	9	9	14	2	2	1	2	0	0	1	5	3	4	2	3	2	3	3	3	2	1	2	rs151094083		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:165533034G>A	ENST00000294818.1	+	2	1205	c.915G>A	c.(913-915)tcG>tcA	p.S305S	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	305						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AGACGAGCTCGGTCCAGGAGT	0.567													29	56					0	0	0	0	A	165533034	G	A	165533034	2	1	463	1	0	0	0	0	0	0	0	1	9074	1103	39	1		1	LRRC52	1	165533034	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	8659291	165533034	83717587	5	89924											
RC3H1	149041	broad.mit.edu	37	chr1	173951938	173951938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaggcttgaggaaaccgtGgctccaatctttgcaccaca	11	9	10	11	1	1	2	0	1	1	1	2	3	2	3	3	3	2	3	3	3	3	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:173951938G>A	ENST00000367696.2	-	5	1046	c.695C>T	c.(694-696)cCa>cTa	p.P232L	RC3H1_ENST00000367694.2_Missense_Mutation_p.P232L|RC3H1_ENST00000258349.4_Missense_Mutation_p.P232L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	232					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGGAAACCGTGGCTCCAATCT	0.433													67	97					0	0	0	0	A	173951938	G	A	173951938	3	1	463	1	0	0	0	0	1	0	0	0	13248	1348	47	4	2770	4	RC3H1	1	173951938	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	8418904	173951938	75298683	6	89925											
PPP1R12B	4660	broad.mit.edu	37	chr1	202464471	202464471	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagacaaacccaccacGccagcatctccttctacgtc	11	6	5	19	2	2	1	0	0	2	1	4	1	2	1	5	0	4	1	5	0	2	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:202464471G>C	ENST00000406302.3	+	16	2349	c.2196G>C	c.(2194-2196)acG>acC	p.T732T	PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000336894.4_Silent_p.T732T|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	732					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AACCCACCACGCCAGCATCTC	0.463													21	43					0	0	0	0	C	202464471	G	C	202464471	2	2	463	1	0	0	0	0	0	0	0	1	12431	1074	38	3		3	PPP1R12B	1	202464471	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	28512533	202464471	46786150	7	89926											
CEP170	9859	broad.mit.edu	37	chr1	243349562	243349562	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaagcagtttgacttacaAcagcttggtcttgatgcttt	11	15	8	7	0	1	2	0	2	1	0	1	2	1	2	0	1	5	4	0	1	4	6			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:243349562A>G	ENST00000366542.1	-	9	1322	c.1272_splice	c.e9+1	p.V424_splice	CEP170_ENST00000366544.1_Splice_Site_p.V424_splice|CEP170_ENST00000366543.1_Splice_Site_p.V424_splice	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	424						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTGACTTACAACAGCTTGGTC	0.413													62	189					0	0	0	0	G	243349562	A	G	243349562	5	3	463	1	0	0	0	0	0	0	1	0	3279	57	2	5	3561	5	CEP170	1	243349562	Splice_Site	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	40885091	243349562	5901059	8	89927											
AKT3	10000	broad.mit.edu	37	chr1	243801019	243801019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgcctttacctagtagtTtcaaatagtcaaaatcattc	14	14	5	8	0	3	0	3	0	0	0	4	0	3	0	2	0	2	2	2	0	8	7			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:243801019T>C	ENST00000366539.1	-	6	655	c.455A>G	c.(454-456)aAa>aGa	p.K152R	AKT3_ENST00000336199.5_Missense_Mutation_p.K152R|AKT3_ENST00000366540.1_Missense_Mutation_p.K152R|AKT3_ENST00000263826.5_Missense_Mutation_p.K152R			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	152	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ACCTAGTAGTTTCAAATAGTC	0.269													10	44					0	0	0	0	C	243801019	T	C	243801019	3	2	463	1	0	0	0	0	1	0	0	0	481	1841	64	5	1068	5	AKT3	1	243801019	Missense_Mutation	SNP	T	TCGA-P3-A6T0-01A-12D-A34J-08	451457	243801019	5449602	9	89928											
KIDINS220	57498	broad.mit.edu	37	chr2	8934009	8934009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attataaggagtctcgcctgCtttgttgggcctataaagta	10	14	10	7	1	1	0	0	0	1	0	2	1	1	1	2	2	1	3	2	2	6	7			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:8934009C>A	ENST00000256707.3	-	12	1388	c.1207G>T	c.(1207-1209)Gca>Tca	p.A403S	KIDINS220_ENST00000319688.5_Missense_Mutation_p.A404S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A403S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A361S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A403S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	403					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTCGCCTGCTTTGTTGGGC	0.413													44	81					3.54561e-26	3.91883e-26	1	0	A	8934009	C	A	8934009	3	1	463	1	0	0	0	0	1	0	0	0	8322	797	28	4	4184	4	KIDINS220	2	8934009	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		8934009	234265364	10	89929											
NT5C1B	93034	broad.mit.edu	37	chr2	18765459	18765459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgtagattttcctgccGtccaccatgttgaagagcgc	7	12	10	12	3	0	3	0	1	0	2	3	3	2	3	4	0	3	3	4	0	2	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:18765459G>A	ENST00000304081.4	-	5	886	c.786C>T	c.(784-786)gaC>gaT	p.D262D	NT5C1B_ENST00000359846.2_Silent_p.D322D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D322D|NT5C1B_ENST00000600945.1_Silent_p.D322D	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTTCCTGCCGTCCACCATGT	0.557													79	173					0	0	0	0	A	18765459	G	A	18765459	2	1	463	1	0	0	0	0	0	0	0	1	10757	1136	40	1		1	NT5C1B	2	18765459	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	9831450	18765459	224433914	11	89930											
ALMS1	7840	broad.mit.edu	37	chr2	73676804	73676804	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagtacagtctagttcttaCccacagagggagaagcctag	12	8	11	10	0	2	2	0	0	2	2	2	3	2	2	2	1	3	3	2	1	5	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:73676804C>G	ENST00000264448.6	+	8	3258	c.3147C>G	c.(3145-3147)taC>taG	p.Y1049*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Y1049*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y1007*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1049	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				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						CTAGTTCTTACCCACAGAGGG	0.488													69	170					0	0	0	0	G	73676804	C	G	73676804	4	3	463	1	0	0	0	0	0	1	0	0	535	518	18	4	3177	4	ALMS1	2	73676804	Nonsense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	54911345	73676804	169522569	12	89931											
C2orf78	388960	broad.mit.edu	37	chr2	74043580	74043580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaaccctctagcctcaCgtaggcctgctgtggcttac	7	9	10	15	1	2	0	1	0	1	0	2	0	2	0	4	3	4	3	4	3	4	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:74043580C>T	ENST00000409561.1	+	3	2351	c.2230C>T	c.(2230-2232)Cgt>Tgt	p.R744C		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	744										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTAGCCTCACGTAGGCCTGC	0.537													77	188					0	0	0	0	T	74043580	C	T	74043580	3	4	463	1	0	0	0	0	1	0	0	0	2215	536	19	1	2240	1	C2orf78	2	74043580	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	366776	74043580	169155793	13	89932											
PLCL1	5334	broad.mit.edu	37	chr2	198950189	198950189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagtgccatgaggatcGattccagtaacttgaatcca	13	10	8	10	1	0	2	0	2	0	0	4	4	3	3	4	1	2	1	4	1	3	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:198950189G>T	ENST00000428675.1	+	2	2346	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.D552Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	650	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATGAGGATCGATTCCAGTAA	0.423													29	56					2.4375e-19	2.625e-19	1	0	T	198950189	G	T	198950189	3	4	463	1	0	0	0	0	1	0	0	0	12111	1058	37	3	1954	3	PLCL1	2	198950189	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	124906609	198950189	44249184	14	89933											
CPS1	1373	broad.mit.edu	37	chr2	211454904	211454904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgggattttgatcgcGggaggaccggggaacccagc	9	8	16	8	3	0	2	0	2	0	0	1	6	0	6	2	5	2	0	2	5	2	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:211454904G>A	ENST00000233072.5	+	8	982	c.786G>A	c.(784-786)gcG>gcA	p.A262A	CPS1_ENST00000430249.2_Silent_p.A268A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	262	Glutamine amidotransferase type-1.				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.A262A(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)		TTTTGATCGCGGGAGGACCGG	0.483													100	215					0	0	0	0	A	211454904	G	A	211454904	2	1	463	1	0	0	0	0	0	0	0	1	3853	1103	39	1		1	CPS1	2	211454904	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	12504715	211454904	31744469	15	89934											
COL6A3	1293	broad.mit.edu	37	chr2	238244924	238244924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctacaggcttcgctgccGttgctggcttcaccgccact	4	11	10	16	3	1	0	1	0	0	0	2	0	1	0	3	2	4	6	3	2	1	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:238244924G>A	ENST00000295550.4	-	40	9271	c.8819C>T	c.(8818-8820)aCg>aTg	p.T2940M	COL6A3_ENST00000346358.4_Missense_Mutation_p.T2740M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2734M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2739M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2734M|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2333M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2940	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTCGCTGCCGTTGCTGGCTT	0.637													49	106					0	0	0	0	A	238244924	G	A	238244924	3	1	463	1	0	0	0	0	1	0	0	0	3731	1145	40	1	734	1	COL6A3	2	238244924	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	26790020	238244924	4954449	16	89935											
QRICH1	54870	broad.mit.edu	37	chr3	49070105	49070105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaagtaccggatactcGtgcttttatccttgggatta	8	15	8	10	2	1	0	1	0	0	0	3	2	2	2	3	2	3	2	3	2	5	7			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:49070105G>A	ENST00000395443.2	-	8	2469	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	QRICH1_ENST00000357496.2_Missense_Mutation_p.T666M|QRICH1_ENST00000424300.1_Missense_Mutation_p.T666M	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	666										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCGGATACTCGTGCTTTTATC	0.507													40	90					0	0	0	0	A	49070105	G	A	49070105	3	1	463	1	0	0	0	0	1	0	0	0	12961	1145	40	1	345	1	QRICH1	3	49070105	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		49070105	148952325	17	89936											
MED12L	116931	broad.mit.edu	37	chr3	151100525	151100525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagcattgcaactccgcCtaaatttggtaagtgacatt	13	11	8	9	2	0	1	0	1	0	0	1	2	1	1	2	1	3	3	2	1	5	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:151100525C>T	ENST00000474524.1	+	31	4605	c.4567C>T	c.(4567-4569)Cta>Tta	p.L1523L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.L1383L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1523					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAACTCCGCCTAAATTTGGT	0.393													12	53					0	0	0	0	T	151100525	C	T	151100525	2	4	463	1	0	0	0	0	0	0	0	1	9498	680	24	4		4	MED12L	3	151100525	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	102030420	151100525	46921905	18	89937											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	62					0	0	0	0	G	178952085	A	G	178952085	3	3	463	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	27851560	178952085	19070345	19	89938											
ACTL6A	86	broad.mit.edu	37	chr3	179305757	179305759	+	In_Frame_Del	DEL	GAA	GAA	-																															ggatttccaagcaagaatatGaagaaggagggaagcagtgt																										TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:179305757_179305759delGAA	ENST00000429709.2	+	14	1462_1464	c.1249_1251delGAA	c.(1249-1251)del	p.E418del	ACTL6A_ENST00000392662.1_In_Frame_Del_p.E376del|ACTL6A_ENST00000450518.2_In_Frame_Del_p.E376del	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	418					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	p.E417*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GCAAGAATATGAAGAAGGAGGGA	0.36													13	69	---	---	---	---					-	179305759	GAA	-	179305757	7	5	463	1	0	1	0	1	0	0	0	0	198	1291	45	0	1303	0	ACTL6A	3	179305757	In_Frame_Del	DEL	GAA	TCGA-P3-A6T0-01A-12D-A34J-08	353672	179305757	18716673	20	89939											
PARL	55486	broad.mit.edu	37	chr3	183585677	183585677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtaaaaaataaaggtttTatgagactccttataggata	18	12	7	4	0	0	1	0	1	0	1	1	3	1	2	1	2	0	2	1	2	9	7			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:183585677T>C	ENST00000317096.4	-	2	357	c.297A>G	c.(295-297)atA>atG	p.I99M	PARL_ENST00000311101.5_Missense_Mutation_p.I99M|PARL_ENST00000435888.1_Missense_Mutation_p.I99M	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	99					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAAAGGTTTTATGAGACTCC	0.418													49	103					0	0	0	0	C	183585677	T	C	183585677	3	2	463	1	0	0	0	0	1	0	0	0	11522	1744	61	5	878	5	PARL	3	183585677	Missense_Mutation	SNP	T	TCGA-P3-A6T0-01A-12D-A34J-08	4279920	183585677	14436753	21	89940											
RTP2	344892	broad.mit.edu	37	chr3	187416478	187416478	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgggcttccagtgaacGatgccctcctggcaggcctc	5	9	12	15	2	0	1	0	1	0	0	4	2	2	1	4	3	2	3	4	3	1	1	rs140924394		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:187416478G>T	ENST00000358241.1	-	2	914	c.486C>A	c.(484-486)atC>atA	p.I162I		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	162					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TCCAGTGAACGATGCCCTCCT	0.657													13	36					5.50884e-06	5.68945e-06	1	0	T	187416478	G	T	187416478	2	4	463	1	0	0	0	0	0	0	0	1	13819	1048	37	3		3	RTP2	3	187416478	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	3830801	187416478	10605952	22	89941											
SORCS2	57537	broad.mit.edu	37	chr4	7728557	7728557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggttttcggacacgggCgacgtgcgtgtgacggtgca	6	8	17	10	8	0	1	0	1	0	0	1	3	0	2	0	4	2	2	0	4	0	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:7728557C>T	ENST00000507866.2	+	21	2905	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	SORCS2_ENST00000329016.9_Silent_p.G760G	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	932						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CGGACACGGGCGACGTGCGTG	0.652													57	91					0	0	0	0	T	7728557	C	T	7728557	2	4	463	1	0	0	0	0	0	0	0	1	15019	755	27	1		1	SORCS2	4	7728557	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		7728557	183425719	23	89942											
PCDH7	5099	broad.mit.edu	37	chr4	30724930	30724930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacggtgattgtgcaggTggctgataaaaatgacaatg	13	10	12	6	1	0	3	0	3	0	0	0	3	0	3	0	3	2	2	0	3	5	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:30724930T>C	ENST00000361762.2	+	1	2894	c.1886T>C	c.(1885-1887)gTg>gCg	p.V629A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V629A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	629	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATTGTGCAGGTGGCTGATAAA	0.502													28	67					0	0	0	0	C	30724930	T	C	30724930	3	2	463	1	0	0	0	0	1	0	0	0	11587	1696	59	5	1888	5	PCDH7	4	30724930	Missense_Mutation	SNP	T	TCGA-P3-A6T0-01A-12D-A34J-08	22996373	30724930	160429346	24	89943											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984154	41984154	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcccttcgttccacgtgtaCgtgctcagaaacctctacgt	8	12	7	14	4	2	1	1	0	1	1	5	1	4	1	3	0	4	3	3	0	3	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	115										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCACGTGTACGTGCTCAGAA	0.562													40	66					0	0	0	0	T	41984154	C	T	41984154	2	4	463	1	0	0	0	0	0	0	0	1	4304	547	19	1		1	DCAF4L1	4	41984154	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	11259224	41984154	149170122	25	89944											
ADAMTS3	9508	broad.mit.edu	37	chr4	73434495	73434495	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcacgagtcgagttcaCtttccaactactgggcaaag	12	9	8	12	2	2	0	2	0	0	0	4	2	3	0	2	1	2	2	2	1	3	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:73434495C>T	ENST00000286657.4	-	0	21					NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3						collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCGAGTTCACTTTCCAACTA	0.448													16	36					0	0	0	0	T	73434495	C	T	73434495	1	4	463	1	0	0	0	0	0	0	0	0	267	580	20	4		4	ADAMTS3	4	73434495	Translation_Start_Site	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	31450341	73434495	117719781	26	89945											
TET2	54790	broad.mit.edu	37	chr4	106158210	106158210	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgaagcagtttcacgcCaagtcgttatttgaccataa	12	12	7	10	2	2	2	1	2	1	0	3	2	2	2	2	0	1	3	2	0	4	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:106158210C>A	ENST00000513237.1	+	3	3971	c.3174C>A	c.(3172-3174)gcC>gcA	p.A1058A	TET2_ENST00000540549.1_Silent_p.A1037A|TET2_ENST00000545826.1_Silent_p.A1037A|TET2_ENST00000394764.1_Silent_p.A1037A|TET2_ENST00000380013.4_Silent_p.A1037A|TET2_ENST00000413648.2_Silent_p.A1037A|TET2_ENST00000305737.2_Silent_p.A1037A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1037					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTTTCACGCCAAGTCGTTAT	0.428			"Mis N, F"		MDS								31	66					2.85442e-18	3.04794e-18	1	0	A	106158210	C	A	106158210	2	1	463	1	0	0	0	0	0	0	0	1	15864	581	21	4		4	TET2	4	106158210	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	32723715	106158210	84996066	27	89946											
TET2	54790	broad.mit.edu	37	chr4	106158254	106158254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttactctcaaatcacagaAgcaagtaaaagttgaaatgt	17	11	6	7	0	3	2	2	1	2	1	4	2	3	2	0	0	2	3	0	0	7	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:106158254A>G	ENST00000513237.1	+	3	4015	c.3218A>G	c.(3217-3219)aAg>aGg	p.K1073R	TET2_ENST00000540549.1_Missense_Mutation_p.K1052R|TET2_ENST00000545826.1_Missense_Mutation_p.K1052R|TET2_ENST00000394764.1_Missense_Mutation_p.K1052R|TET2_ENST00000380013.4_Missense_Mutation_p.K1052R|TET2_ENST00000413648.2_Missense_Mutation_p.K1052R|TET2_ENST00000305737.2_Missense_Mutation_p.K1052R			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1052			E -> V.		cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAATCACAGAAGCAAGTAAAA	0.453			"Mis N, F"		MDS								34	60					0	0	0	0	G	106158254	A	G	106158254	3	3	463	1	0	0	0	0	1	0	0	0	15864	72	3	5	3157	5	TET2	4	106158254	Missense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	44	106158254	84996022	28	89947											
NDST4	64579	broad.mit.edu	37	chr4	115891608	115891608	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcaaattccttgttgagaAtcatctgctctactaaagat	12	14	7	8	0	3	2	1	1	2	2	4	3	4	2	1	0	3	3	1	0	5	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:115891608A>C	ENST00000264363.2	-	4	1877	c.1199T>G	c.(1198-1200)aTt>aGt	p.I400S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	400	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTTGTTGAGAATCATCTGCTC	0.423													15	56					0	0	0	0	C	115891608	A	C	115891608	3	2	463	1	0	0	0	0	1	0	0	0	10328	101	4	5	1463	5	NDST4	4	115891608	Missense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	9733354	115891608	75262668	29	89948											
FAT1	2195	broad.mit.edu	37	chr4	187542660	187542660	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatacaccactgatgattGactatgggctgtaaccatcc	11	12	7	11	0	1	3	1	3	0	0	2	3	2	3	3	1	2	2	3	1	3	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:187542660G>A	ENST00000441802.2	-	10	5289	c.5080C>T	c.(5080-5082)Caa>Taa	p.Q1694*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1694	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGATGATTGACTATGGGCT	0.393										HNSCC(5;0.00058)			64	29					0	0	0	0	A	187542660	G	A	187542660	4	1	463	1	0	0	0	0	0	1	0	0	5734	1299	45	2	8758	2	FAT1	4	187542660	Nonsense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	71651052	187542660	3611616	30	89949											
CDH9	1007	broad.mit.edu	37	chr5	26881405	26881405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcccttcataggcatacGttgccagcgaatcatatgga	11	11	8	11	2	2	0	2	0	0	0	3	2	3	1	2	2	3	2	2	2	4	6			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:26881405G>A	ENST00000231021.4	-	12	2382	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAGGCATACGTTGCCAGCGA	0.423													51	102					0	0	0	0	A	26881405	G	A	26881405	3	1	463	1	0	0	0	0	1	0	0	0	3146	1145	40	1	163	1	CDH9	5	26881405	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		26881405	154033855	31	89950											
ZFR	51663	broad.mit.edu	37	chr5	32387756	32387756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatttctatctcctcggaGaagtaatccttttgccaata	11	14	6	10	1	2	1	0	0	2	1	5	3	3	1	3	1	1	1	3	1	5	6			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:32387756G>C	ENST00000265069.8	-	14	2500	c.2398C>G	c.(2398-2400)Ctc>Gtc	p.L800V		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	800	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTCCTCGGAGAAGTAATCCT	0.383													37	75					0	0	0	0	C	32387756	G	C	32387756	3	2	463	1	0	0	0	0	1	0	0	0	17754	942	33	2	854	2	ZFR	5	32387756	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	5506351	32387756	148527504	32	89951											
ITGA2	3673	broad.mit.edu	37	chr5	52360897	52360897	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcagaattctggagctgtAtacatttacaatggtcatca	14	13	7	7	0	4	1	3	0	1	1	4	2	4	2	0	2	3	2	0	2	6	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:52360897A>G	ENST00000296585.5	+	14	1901	c.1758A>G	c.(1756-1758)gtA>gtG	p.V586V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	586					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTGGAGCTGTATACATTTACA	0.393													6	160					0	0	0	0	G	52360897	A	G	52360897	2	3	463	1	0	0	0	0	0	0	0	1	7928	436	16	5		5	ITGA2	5	52360897	Silent	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	19973141	52360897	128554363	33	89952											
PCDHB12	56124	broad.mit.edu	37	chr5	140589098	140589098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggattatgaagagcgcccgGagctcagtttcatcctcact	9	11	10	11	2	3	2	3	1	0	1	4	4	4	4	2	2	2	2	2	2	2	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:140589098G>A	ENST00000239450.2	+	1	808	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		207	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			AGAGCGCCCGGAGCTCAGTTT	0.502													27	50					0	0	0	0	A	140589098	G	A	140589098	3	1	463	1	0	0	0	0	1	0	0	0	11608	1175	41	2	621	2	PCDHB12	5	140589098	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	88228201	140589098	40326162	34	89953											
PCDH12	51294	broad.mit.edu	37	chr5	141335643	141335656	+	Frame_Shift_Del	DEL	TGGGCACCAGCAGG	TGGGCACCAGCAGG	-																															caagccattgggagtctcgaTgggcaccagcaggtggcctg																										TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:141335643_141335656delTGGGCACCAGCAGG	ENST00000231484.3	-	1	2971_2984	c.1761_1774delCCTGCTGGTGCCCA	c.(1759-1776)catcfs	p.HLLVPI587fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	587					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTCTCGATGGGCACCAGCAGGTGGCCTGTGG	0.593													23	68	---	---	---	---					-	141335656	TGGGCACCAGCAGG	-	141335643	7	5	463	1	0	1	0	1	0	0	0	0	11581	1464	51	0	1796	0	PCDH12	5	141335643	Frame_Shift_Del	DEL	TGGGCACCAGCAGG	TCGA-P3-A6T0-01A-12D-A34J-08	746545	141335643	39579617	35	89954											
GRIA1	2890	broad.mit.edu	37	chr5	153056713	153056713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcgacatccagagagctCtgcagcaggtaagaccacca	13	5	11	12	1	1	2	0	0	1	2	3	5	2	3	3	2	3	4	3	2	1	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:153056713C>A	ENST00000285900.5	+	7	1364	c.1021C>A	c.(1021-1023)Ctg>Atg	p.L341M	GRIA1_ENST00000448073.4_Missense_Mutation_p.L351M|GRIA1_ENST00000518783.1_Missense_Mutation_p.L351M|GRIA1_ENST00000518142.1_Missense_Mutation_p.L261M|GRIA1_ENST00000340592.5_Missense_Mutation_p.L341M|GRIA1_ENST00000521843.2_Missense_Mutation_p.L272M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	341					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGAGAGCTCTGCAGCAGGT	0.507													9	29					1.08611e-07	1.13099e-07	1	0	A	153056713	C	A	153056713	3	1	463	1	0	0	0	0	1	0	0	0	6817	912	32	2	1047	2	GRIA1	5	153056713	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	11721070	153056713	27858547	36	89955											
RANBP17	64901	broad.mit.edu	37	chr5	170338003	170338003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctttaaatcttcaggatCaatgtcagcaaaatctggta	15	12	6	8	0	5	0	3	0	2	0	5	1	5	1	1	2	2	2	1	2	7	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:170338003C>G	ENST00000523189.1	+	7	789	c.625C>G	c.(625-627)Caa>Gaa	p.Q209E		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	209					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCAGGATCAATGTCAGCA	0.348			T	TRD@	ALL								29	67					0	0	0	0	G	170338003	C	G	170338003	3	3	463	1	0	0	0	0	1	0	0	0	13109	827	29	2	651	2	RANBP17	5	170338003	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	17281290	170338003	10577257	37	89956											
DAAM2	23500	broad.mit.edu	37	chr6	39864627	39864627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggtccgcagcaagcGtcttagacagatgctagagg	10	7	15	9	2	1	3	0	0	1	3	2	4	2	4	1	3	4	4	1	3	3	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:39864627G>A	ENST00000538976.1	+	20	2563	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	DAAM2_ENST00000274867.4_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000606829.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	794	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGCAGCAAGCGTCTTAGACAG	0.612													6	22					0	0	0	0	A	39864627	G	A	39864627	3	1	463	1	0	0	0	0	1	0	0	0	4249	1145	40	1	2455	1	DAAM2	6	39864627	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		39864627	131250440	38	89957											
LRFN2	57497	broad.mit.edu	37	chr6	40400626	40400626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaggtccaccagccccGtcatgttggcaaagtcctgg	7	8	13	13	1	2	0	2	0	0	0	4	0	4	0	5	4	1	2	5	4	1	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:40400626G>A	ENST00000338305.6	-	2	769	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	76						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGCCCCGTCATGTTGGC	0.597													7	42					0	0	0	0	A	40400626	G	A	40400626	3	1	463	1	0	0	0	0	1	0	0	0	9002	1145	40	1	2150	1	LRFN2	6	40400626	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	535999	40400626	130714441	39	89958											
EYS	346007	broad.mit.edu	37	chr6	66094308	66094308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaattatattgaaacaccAttcttcattcagacagttga	14	14	4	9	0	3	3	2	2	1	1	4	3	4	3	2	0	1	1	2	0	4	7			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:66094308A>T	ENST00000503581.1	-	8	1807	c.1270T>A	c.(1270-1272)Tgg>Agg	p.W424R	EYS_ENST00000342421.5_Missense_Mutation_p.W424R|EYS_ENST00000370616.2_Missense_Mutation_p.W424R|EYS_ENST00000393380.2_Missense_Mutation_p.W424R|EYS_ENST00000370618.3_Missense_Mutation_p.W424R|EYS_ENST00000370621.3_Missense_Mutation_p.W424R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	424					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGAAACACCATTCTTCATTC	0.323													7	52					0	0	0	0	T	66094308	A	T	66094308	3	4	463	1	0	0	0	0	1	0	0	0	5370	217	8	5	8270	5	EYS	6	66094308	Missense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	25693682	66094308	105020759	40	89959											
HTR1B	3351	broad.mit.edu	37	chr6	78172427	78172427	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggagcgggcttctacgtAgatgcggccatagagggcga	8	6	17	10	5	1	2	0	0	1	2	1	4	1	3	2	4	3	2	2	4	3	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:78172427A>C	ENST00000369947.2	-	1	1063	c.694T>G	c.(694-696)Tac>Gac	p.Y232D		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	232					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GCTTCTACGTAGATGCGGCCA	0.607													12	53					0	0	0	0	C	78172427	A	C	78172427	3	2	463	1	0	0	0	0	1	0	0	0	7490	420	15	5	482	5	HTR1B	6	78172427	Missense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	12078119	78172427	92942640	41	89960											
RRAGD	58528	broad.mit.edu	37	chr6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-																															ccgctagccccaccagctcaTcctcctcctcctcctcctcc																										TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gat>ga	p.ED22del	RRAGD_ENST00000359203.2_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	22					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754													2	4	---	---	---	---					-	90121647	TCC	-	90121645	7	5	463	1	0	1	0	1	0	0	0	0	13760	1435	50	0	1162	0	RRAGD	6	90121645	In_Frame_Del	DEL	TCC	TCGA-P3-A6T0-01A-12D-A34J-08	11949218	90121645	80993422	42	89961											
BZW2	28969	broad.mit.edu	37	chr7	16736663	16736663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaggaagaacttgttgcaGagcaggctctgaagcacctg	13	7	13	8	0	1	4	0	1	1	3	1	5	1	5	1	2	4	5	1	2	4	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:16736663G>A	ENST00000433922.2	+	9	1124	c.946G>A	c.(946-948)Gag>Aag	p.E316K	BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_Missense_Mutation_p.E240K|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Missense_Mutation_p.E316K|BZW2_ENST00000407633.1_Missense_Mutation_p.E122K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	316	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		ACTTGTTGCAGAGCAGGCTCT	0.438													22	53					0	0	0	0	A	16736663	G	A	16736663	3	1	463	1	0	0	0	0	1	0	0	0	1588	943	33	2	976	2	BZW2	7	16736663	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		16736663	142402000	43	89962											
MPP6	51678	broad.mit.edu	37	chr7	24720064	24720064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgtggtatttattgcGgctccggagctagagacgtt	7	13	12	9	3	0	1	0	0	0	1	1	3	1	2	2	3	2	4	2	3	4	7			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:24720064G>A	ENST00000396475.2	+	12	1670	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	MPP6_ENST00000222644.4_Silent_p.A457A|MPP6_ENST00000409761.1_Silent_p.A345A	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	457	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATTTATTGCGGCTCCGGAGC	0.418													60	109					0	0	0	0	A	24720064	G	A	24720064	2	1	463	1	0	0	0	0	0	0	0	1	9808	1103	39	1		1	MPP6	7	24720064	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	7983401	24720064	134418599	44	89963											
HOXA1	3198	broad.mit.edu	37	chr7	27134302	27134302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccaccctgcgggcgcgCgtcaggtacttgttgaagtg	6	10	13	12	4	2	1	1	1	1	0	3	1	2	1	2	2	2	2	2	2	2	3	rs138651027	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:27134302C>T	ENST00000343060.4	-	2	826	c.765G>A	c.(763-765)acG>acA	p.T255T	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	255						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCGGGCGCGCGTCAGGTACT	0.562													44	70					0	0	0	0	T	27134302	C	T	27134302	2	4	463	1	0	0	0	0	0	0	0	1	7338	755	27	1		1	HOXA1	7	27134302	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	2414238	27134302	132004361	45	89964											
OR2A2	442361	broad.mit.edu	37	chr7	143807039	143807039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgatgtcctatgataggTatgtggccatctgccaccct	7	13	11	10	0	1	2	0	2	1	0	2	2	2	2	4	3	1	1	4	3	3	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:143807039T>C	ENST00000408979.2	+	1	433	c.364T>C	c.(364-366)Tat>Cat	p.Y122H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTATGATAGGTATGTGGCCAT	0.473													56	129					0	0	0	0	C	143807039	T	C	143807039	3	2	463	1	0	0	0	0	1	0	0	0	11048	1638	57	5	366	5	OR2A2	7	143807039	Missense_Mutation	SNP	T	TCGA-P3-A6T0-01A-12D-A34J-08	116672737	143807039	15331624	46	89965											
HTR5A	3361	broad.mit.edu	37	chr7	154863177	154863177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacgtactctgagggcagcGaggagtgccaggtaagccgc	10	5	16	10	3	1	2	0	1	1	1	1	4	1	3	2	3	4	3	2	3	2	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:154863177G>A	ENST00000287907.2	+	1	1144	c.568G>A	c.(568-570)Gag>Aag	p.E190K	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	190						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGAGGGCAGCGAGGAGTGCCA	0.612													19	33					0	0	0	0	A	154863177	G	A	154863177	3	1	463	1	0	0	0	0	1	0	0	0	7503	1059	37	1	570	1	HTR5A	7	154863177	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	11056138	154863177	4275486	47	89966											
PIWIL2	55124	broad.mit.edu	37	chr8	22212931	22212931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagttccagctccttgcaaGtatgcccacaagctagcttt	10	11	8	12	0	0	1	0	0	0	1	2	1	2	1	3	0	5	6	3	0	4	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:22212931G>A	ENST00000356766.6	+	23	2983	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	PIWIL2_ENST00000454009.2_Silent_p.K945K|PIWIL2_ENST00000521356.1_Silent_p.K909K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	945	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTCCTTGCAAGTATGCCCACA	0.488													39	70					0	0	0	0	A	22212931	G	A	22212931	2	1	463	1	0	0	0	0	0	0	0	1	12030	1020	36	4		4	PIWIL2	8	22212931	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		22212931	124151091	48	89967											
ADAM28	10863	broad.mit.edu	37	chr8	24188811	24188811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaccagttggtggaaatgGgagaggactgtgattgtggg	10	9	19	3	0	0	2	0	1	0	1	0	6	0	5	1	6	1	1	1	6	2	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:24188811G>A	ENST00000265769.4	+	12	1362	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	ADAM28_ENST00000397649.3_Missense_Mutation_p.G165R|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.G418R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.G185R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	418	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGTGGAAATGGGAGAGGACTG	0.373													11	46					0	0	0	0	A	24188811	G	A	24188811	3	1	463	1	0	0	0	0	1	0	0	0	246	1233	43	4	1298	4	ADAM28	8	24188811	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	1975880	24188811	122175211	49	89968											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457610	110457610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagtagcatctctatcaCcaacttctggaagcattggt	10	11	7	13	0	3	0	1	0	2	0	4	1	3	1	3	2	3	3	3	2	4	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:110457610C>T	ENST00000378402.5	+	38	5616	c.5512C>T	c.(5512-5514)Cca>Tca	p.P1838S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1838	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCTCTATCACCAACTTCTGG	0.493										HNSCC(38;0.096)			32	54					0	0	0	0	T	110457610	C	T	110457610	3	4	463	1	0	0	0	0	1	0	0	0	12044	507	18	4	5662	4	PKHD1L1	8	110457610	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	86268799	110457610	35906412	50	89969											
PKHD1L1	93035	broad.mit.edu	37	chr8	110474046	110474046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggaaagtttggagaagAaataggaagtgaccaatttg	17	8	12	4	0	0	3	0	1	0	2	0	6	0	5	2	3	0	1	2	3	7	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:110474046A>G	ENST00000378402.5	+	48	7396	c.7292A>G	c.(7291-7293)gAa>gGa	p.E2431G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2431					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGAGAAGAAATAGGAAGT	0.393										HNSCC(38;0.096)			8	10					0	0	0	0	G	110474046	A	G	110474046	3	3	463	1	0	0	0	0	1	0	0	0	12044	246	9	5	7482	5	PKHD1L1	8	110474046	Missense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	16436	110474046	35889976	51	89970											
TSC1	7248	broad.mit.edu	37	chr9	135798766	135798766	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcaccatgatgacagacgGccaaaaatgtcaaagaaatc	18	5	9	9	1	1	4	1	2	0	2	2	4	1	4	2	2	0	1	2	2	4	0			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:135798766G>A	ENST00000298552.3	-	6	698	c.477C>T	c.(475-477)ggC>ggT	p.G159G	TSC1_ENST00000545250.1_Silent_p.G108G|TSC1_ENST00000403810.1_Silent_p.G159G|TSC1_ENST00000440111.2_Silent_p.G159G|TSC1_ENST00000475903.1_5'UTR	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	159					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATGACAGACGGCCAAAAATGT	0.438			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				4	48					0	0	0	0	A	135798766	G	A	135798766	2	1	463	1	0	0	0	0	0	0	0	1	16700	1190	42	4		4	TSC1	9	135798766	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		135798766	5414665	52	89971											
DBH	1621	broad.mit.edu	37	chr9	136507569	136507569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttccaaagggcttctctCggcaccacattatcaaggta	11	10	8	12	1	2	0	1	0	1	0	5	0	3	0	2	3	1	4	2	3	4	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:136507569C>T	ENST00000393056.2	+	3	739	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	243					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGGCTTCTCTCGGCACCACAT	0.612													6	23					0	0	0	0	T	136507569	C	T	136507569	3	4	463	1	0	0	0	0	1	0	0	0	4283	875	31	1	737	1	DBH	9	136507569	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	708803	136507569	4705862	53	89972											
SNAPC4	6621	broad.mit.edu	37	chr9	139282281	139282281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcagctgcatggagtctctCccttccatatagtagacaac	11	11	7	12	0	2	1	1	0	1	1	5	2	4	2	2	1	3	3	2	1	4	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:139282281C>T	ENST00000298532.2	-	11	1511	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	381	Myb-like 2.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGGAGTCTCTCCCTTCCATAT	0.557													41	79					0	0	0	0	T	139282281	C	T	139282281	2	4	463	1	0	0	0	0	0	0	0	1	14925	842	30	2		2	SNAPC4	9	139282281	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	2774712	139282281	1931150	54	89973											
KIAA1217	56243	broad.mit.edu	37	chr10	24722043	24722043	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacagcagctcaccatgAaaatgctggaatcgcccagt	12	8	8	13	1	1	1	1	1	0	0	3	2	2	2	3	1	3	3	3	1	3	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:24722043A>T	ENST00000376454.3	+	4	703	c.673A>T	c.(673-675)Aaa>Taa	p.K225*	KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.K225*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.K225*|KIAA1217_ENST00000430453.2_Nonsense_Mutation_p.K146*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.K145*	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	225					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCTCACCATGAAAATGCTGGA	0.418													38	80					0	0	0	0	T	24722043	A	T	24722043	4	4	463	1	0	0	0	0	0	1	0	0	8267	247	9	5	687	5	KIAA1217	10	24722043	Nonsense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08		24722043	110812704	55	89974											
PTCHD3	374308	broad.mit.edu	37	chr10	27702454	27702454	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggcttcccttttcccgCgccacgcgcagatcctgcac	5	10	8	18	4	1	1	0	0	1	1	4	1	4	1	4	1	1	3	4	1	0	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:27702454C>T	ENST00000438700.3	-	1	843	c.726G>A	c.(724-726)gcG>gcA	p.A242A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	242					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTTTTCCCGCGCCACGCGCA	0.627													20	37					0	0	0	0	T	27702454	C	T	27702454	2	4	463	1	0	0	0	0	0	0	0	1	12813	755	27	1		1	PTCHD3	10	27702454	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	2980411	27702454	107832293	56	89975											
ARID5B	84159	broad.mit.edu	37	chr10	63829516	63829516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaggcggtaatcctgggAgcaccagcgctgccacttgt	9	9	12	11	2	0	0	0	0	0	0	1	1	1	1	3	3	3	3	3	3	3	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:63829516A>G	ENST00000279873.7	+	8	1569	c.1159A>G	c.(1159-1161)Agc>Ggc	p.S387G	ARID5B_ENST00000309334.5_Missense_Mutation_p.S144G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	387	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TAATCCTGGGAGCACCAGCGC	0.408													18	26					0	0	0	0	G	63829516	A	G	63829516	3	3	463	1	0	0	0	0	1	0	0	0	924	304	11	5	1189	5	ARID5B	10	63829516	Missense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	36127062	63829516	71705231	57	89976											
SLK	9748	broad.mit.edu	37	chr10	105770646	105770646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgcaggaaagaggagcttGcacaaagccagcatgctcag	15	4	12	10	1	1	1	1	0	0	1	1	3	1	3	1	2	6	5	1	2	3	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:105770646G>A	ENST00000369755.3	+	13	3402	c.2857G>A	c.(2857-2859)Gca>Aca	p.A953T	SLK_ENST00000335753.4_Intron|SLK_ENST00000474260.1_Intron	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	953					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAGGAGCTTGCACAAAGCCA	0.443													14	10					0	0	0	0	A	105770646	G	A	105770646	3	1	463	1	0	0	0	0	1	0	0	0	14836	1319	46	4	2907	4	SLK	10	105770646	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	41941130	105770646	29764101	58	89977											
GPR123	84435	broad.mit.edu	37	chr10	134906561	134906561	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccggacacctcactgtgTaggaaagaaggttcctcagc	10	7	11	13	1	2	1	2	0	0	1	3	3	3	3	4	3	1	2	4	3	3	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:134906561T>C	ENST00000607359.1	+	10	1832	c.1832T>C	c.(1831-1833)gTa>gCa	p.V611A	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTCACTGTGTAGGAAAGAAG	0.607													3	6					0	0	0	0	C	134906561	T	C	134906561	3	2	463	1	0	0	0	0	1	0	0	0	6686	1653	57	5		5	GPR123	10	134906561	Missense_Mutation	SNP	T	TCGA-P3-A6T0-01A-12D-A34J-08	29135915	134906561	628186	59	89978											
KNDC1	85442	broad.mit.edu	37	chr10	135025348	135025348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaggctctcagaggacGgcatctccaggaaggtgggg	10	6	17	8	1	2	2	1	0	2	2	4	4	2	4	1	7	0	3	1	7	2	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:135025348G>A	ENST00000304613.3	+	23	4243	c.4222G>A	c.(4222-4224)Ggc>Agc	p.G1408S	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1410S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1408					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCAGAGGACGGCATCTCCAG	0.642													12	10					0	0	0	0	A	135025348	G	A	135025348	3	1	463	1	0	0	0	0	1	0	0	0	8478	1116	39	1	4312	1	KNDC1	10	135025348	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	118787	135025348	509399	60	89979											
TNNT3	7140	broad.mit.edu	37	chr11	1950354	1950354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccacctggaagacacCgcagaggaggacgcggaagg	11	5	15	10	3	0	2	0	0	0	2	0	6	0	6	3	5	1	1	3	5	2	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:1950354C>T	ENST00000278317.6	+	7	306	c.87C>T	c.(85-87)acC>acT	p.T29T	TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381548.3_Silent_p.T31T|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000397301.1_Silent_p.T40T	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	40					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TGGAAGACACCGCAGAGGAGG	0.667													41	108					0	0	0	0	T	1950354	C	T	1950354	2	4	463	1	0	0	0	0	0	0	0	1	16426	639	23	1		1	TNNT3	11	1950354	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		1950354	133056162	61	89980											
USP47	55031	broad.mit.edu	37	chr11	11964459	11964459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagatccctttggctaatgGacttgactctcacagtatca	10	13	7	11	0	3	2	3	1	1	1	5	3	4	3	1	2	0	2	1	2	2	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:11964459G>A	ENST00000339865.5	+	19	3450	c.2687G>A	c.(2686-2688)gGa>gAa	p.G896E	USP47_ENST00000527733.1_Missense_Mutation_p.G964E|USP47_ENST00000399455.2_Missense_Mutation_p.G984E|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	984					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTGGCTAATGGACTTGACTCT	0.418													44	63					0	0	0	0	A	11964459	G	A	11964459	3	1	463	1	0	0	0	0	1	0	0	0	17174	1174	41	2	2761	2	USP47	11	11964459	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	10014105	11964459	123042057	62	89981											
FOLH1B	219595	broad.mit.edu	37	chr11	89420577	89420577	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttggactaaaaaaagTccttccccagagttcagtgg	14	9	10	8	0	1	1	1	0	0	1	3	3	3	2	3	2	0	2	3	2	5	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:89420577T>C	ENST00000532352.1	+	0	1392							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTAAAAAAAGTCCTTCCCCAG	0.338													40	102					0	0	0	0	C	89420577	T	C	89420577	1	2	463	0	1	0	0	0	0	0	0	0	6025	1664	58	5		5	FOLH1B	11	89420577	RNA	SNP	T	TCGA-P3-A6T0-01A-12D-A34J-08	77456118	89420577	45585939	63	89982											
C12orf71	728858	broad.mit.edu	37	chr12	27235085	27235085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctatccacaggttgtctCcatttagaagcctattagct	9	15	7	10	0	2	1	0	0	2	1	4	1	3	1	3	1	2	2	3	1	5	6			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:27235085C>T	ENST00000429849.2	-	1	362	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	111										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CAGGTTGTCTCCATTTAGAAG	0.413													15	31					0	0	0	0	T	27235085	C	T	27235085	3	4	463	1	0	0	0	0	1	0	0	0	1724	855	30	2	485	2	C12orf71	12	27235085	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		27235085	106616810	64	89983											
DNAJC14	85406	broad.mit.edu	37	chr12	56221370	56221370	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtagccttatccctcCagcctaaccggtcacctagt	8	9	8	16	1	1	0	1	0	0	0	3	0	3	0	7	2	3	1	7	2	4	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:56221370C>T	ENST00000357606.3	-	3	1362	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.W358*|DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.W358*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	358					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTTATCCCTCCAGCCTAACCG	0.572													30	66					0	0	0	0	T	56221370	C	T	56221370	4	4	463	1	0	0	0	0	0	1	0	0	4669	595	21	4	1059	4	DNAJC14	12	56221370	Nonsense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	28986285	56221370	77630525	65	89984											
ZCCHC8	55596	broad.mit.edu	37	chr12	122983380	122983380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaaatctcatacctcggtCgagtcagaatgttcaatttt	13	13	6	9	2	3	1	3	0	1	1	6	2	3	1	1	1	1	1	1	1	5	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:122983380C>T	ENST00000336229.4	-	2	366	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	79						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATACCTCGGTCGAGTCAGAAT	0.289													8	47					0	0	0	0	T	122983380	C	T	122983380	3	4	463	1	0	0	0	0	1	0	0	0	17689	884	31	1	1939	1	ZCCHC8	12	122983380	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	66762010	122983380	10868515	66	89985											
EP400	57634	broad.mit.edu	37	chr12	132445250	132445251	+	Frame_Shift_Ins	INS	-	-	G																															agcgagggtgaggagcagccINSggcccaccccaacccacccc																										TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:132445250_132445251insG	ENST00000333577.4	+	2	195_196	c.86_87insG	c.(85-87)cgcfs	p.R29fs	EP400_ENST00000389561.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.R29fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.R29fs			Q96L91	EP400_HUMAN	E1A binding protein p400	29					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGAGCAGCCGGCCCACCCCA	0.653													2	4	---	---	---	---					G	132445251	-	G	132445250	7	5	463	1	0	1	1	0	0	0	0	0	5187	652	23	0	88	0	EP400	12	132445250	Frame_Shift_Ins	INS	-	TCGA-P3-A6T0-01A-12D-A34J-08	9461870	132445250	1406645	67	89986											
PSPC1	55269	broad.mit.edu	37	chr13	20304417	20304417	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaagccctcttgctgtcGcctcagttcctcctgttctc	4	15	6	16	1	3	0	1	0	2	0	7	0	5	0	4	0	2	3	4	0	2	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr13:20304417G>A	ENST00000338910.4	-	6	1279	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCTTGCTGTCGCCTCAGTTCC	0.368													96	195					0	0	0	0	A	20304417	G	A	20304417	4	1	463	1	0	0	0	0	0	1	0	0	12795	1095	38	1	467	1	PSPC1	13	20304417	Nonsense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		20304417	94865461	68	89987											
FARP1	10160	broad.mit.edu	37	chr13	99098961	99098961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctctgctcggctactcGctcaccatcccctctgagtc	4	11	7	19	2	3	1	1	1	2	0	7	1	4	1	4	1	3	3	4	1	1	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr13:99098961G>A	ENST00000376586.2	+	27	3375	c.3039G>A	c.(3037-3039)tcG>tcA	p.S1013S	FARP1_ENST00000595437.1_Silent_p.S1013S|FARP1_ENST00000319562.6_Silent_p.S982S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	982	PH 2.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.S982S(1)|p.S1013S(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCGGCTACTCGCTCACCATCC	0.552													30	81					0	0	0	0	A	99098961	G	A	99098961	2	1	463	1	0	0	0	0	0	0	0	1	5721	1074	38	1		1	FARP1	13	99098961	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	78794544	99098961	16070917	69	89988											
LTB4R2	56413	broad.mit.edu	37	chr14	24780174	24780174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggtgtactacgtgtgcGcgctcagcatgtacgccagc	7	8	14	12	5	1	0	1	0	0	0	1	0	1	0	1	2	6	4	1	2	3	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:24780174G>A	ENST00000528054.1	+	1	2014	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A102T|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A102T			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	133					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTACGTGTGCGCGCTCAGCAT	0.726													8	40					0	0	0	0	A	24780174	G	A	24780174	3	1	463	1	0	0	0	0	1	0	0	0	9136	1087	38	1	306	1	LTB4R2	14	24780174	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		24780174	82569366	70	89989											
TTC8	123016	broad.mit.edu	37	chr14	89337895	89337895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcttttttgaaaaggcGgctgctgcagatgggcattt	7	15	13	6	1	1	2	0	1	1	1	1	2	1	2	0	3	2	5	0	3	2	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:89337895G>A	ENST00000338104.6	+	12	1152	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	TTC8_ENST00000358622.5_Missense_Mutation_p.R153Q|TTC8_ENST00000536576.1_Missense_Mutation_p.R112Q|TTC8_ENST00000380656.2_Missense_Mutation_p.R351Q|TTC8_ENST00000345383.5_Missense_Mutation_p.R341Q|TTC8_ENST00000354441.6_Missense_Mutation_p.R86Q|TTC8_ENST00000346301.4_Missense_Mutation_p.R311Q			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	377					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.R351Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTGAAAAGGCGGCTGCTGCAG	0.363													12	53					0	0	0	0	A	89337895	G	A	89337895	3	1	463	1	0	0	0	0	1	0	0	0	16810	1116	39	1	1098	1	TTC8	14	89337895	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	64557721	89337895	18011645	71	89990											
SLC24A4	123041	broad.mit.edu	37	chr14	92908448	92908448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagagactccatctgagcGaagatgtggctggagccacc	10	8	12	11	1	2	3	1	1	1	2	3	6	3	4	3	2	2	1	3	2	1	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:92908448G>A	ENST00000532405.1	+	5	635	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	137						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCATCTGAGCGAAGATGTGGC	0.557													15	50					0	0	0	0	A	92908448	G	A	92908448	3	1	463	1	0	0	0	0	1	0	0	0	14556	1059	37	1	376	1	SLC24A4	14	92908448	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	3570553	92908448	14441092	72	89991											
INO80	54617	broad.mit.edu	37	chr15	41272545	41272545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatttcccttgctcaaagggGaactcaaaggagaagaggcg	13	8	12	8	1	2	2	2	0	0	2	3	4	3	3	1	4	2	1	1	4	5	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:41272545G>A	ENST00000361937.3	-	36	4971	c.4547C>T	c.(4546-4548)tCc>tTc	p.S1516F	INO80_ENST00000401393.3_Missense_Mutation_p.S1516F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1516	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTCAAAGGGGAACTCAAAGG	0.562													29	48					0	0	0	0	A	41272545	G	A	41272545	3	1	463	1	0	0	0	0	1	0	0	0	7799	1174	41	2	127	2	INO80	15	41272545	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		41272545	61258847	73	89992											
HCN4	10021	broad.mit.edu	37	chr15	73616161	73616161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcagcagcctggacgCggtgcgcgcagtgggccatc	7	4	17	13	4	0	1	0	0	0	1	1	2	0	2	2	4	3	3	2	4	0	0			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:73616161C>T	ENST00000261917.3	-	8	3266	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	758					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGCCTGGACGCGGTGCGCGCA	0.642													24	42					0	0	0	0	T	73616161	C	T	73616161	3	4	463	1	0	0	0	0	1	0	0	0	7049	768	27	1	1342	1	HCN4	15	73616161	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	32343616	73616161	28915231	74	89993											
IGF1R	3480	broad.mit.edu	37	chr15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgatcatcgctctgcccGtcgctgtcctgttgatcgtg	4	14	10	13	4	3	2	1	2	2	0	7	2	4	2	2	0	1	3	2	0	0	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:99472828G>A	ENST00000268035.6	+	14	3435	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	942					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGCTCTGCCCGTCGCTGTCCT	0.443													13	141					0	0	0	0	A	99472828	G	A	99472828	3	1	463	1	0	0	0	0	1	0	0	0	7624	1145	40	1	2878	1	IGF1R	15	99472828	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	25856667	99472828	3058564	75	89994											
NOD2	64127	broad.mit.edu	37	chr16	50744968	50744968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctttgatggctttgaCgagttcaagttcaggttcac	9	15	9	8	1	3	2	3	2	0	0	3	3	3	2	1	2	1	4	1	2	2	6	rs104895476		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:50744968C>T	ENST00000300589.2	+	4	1251	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	382	NACHT.		D -> E (in EOS).		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.D382D(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATGGCTTTGACGAGTTCAAGT	0.542													30	61					0	0	0	0	T	50744968	C	T	50744968	2	4	463	1	0	0	0	0	0	0	0	1	10587	535	19	1		1	NOD2	16	50744968	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		50744968	39609785	76	89995											
NOD2	64127	broad.mit.edu	37	chr16	50746258	50746258	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgtggagcagctgctgccTtgccttggtgtctgcaaggc	4	10	16	11	1	1	0	0	0	1	0	1	1	1	1	2	4	6	4	2	4	1	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:50746258T>A	ENST00000300589.2	+	4	2541	c.2436T>A	c.(2434-2436)ccT>ccA	p.P812P		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	812					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCTGCTGCCTTGCCTTGGTG	0.612													87	145					0	0	0	0	A	50746258	T	A	50746258	2	1	463	1	0	0	0	0	0	0	0	1	10587	1596	56	5		5	NOD2	16	50746258	Silent	SNP	T	TCGA-P3-A6T0-01A-12D-A34J-08	1290	50746258	39608495	77	89996											
CRISPLD2	83716	broad.mit.edu	37	chr16	84879426	84879426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggagaagtctgctgcagCgtgggccagtcagtgcatct	8	9	14	10	1	3	1	1	0	2	1	3	2	3	1	1	2	4	3	1	2	1	0	rs140773433		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:84879426C>T	ENST00000262424.5	+	3	499	c.275C>T	c.(274-276)gCg>gTg	p.A92V	CRISPLD2_ENST00000569090.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000566431.1_3'UTR	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	92						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TCTGCTGCAGCGTGGGCCAGT	0.597													32	49					0	0	0	0	T	84879426	C	T	84879426	3	4	463	1	0	0	0	0	1	0	0	0	3913	768	27	1	281	1	CRISPLD2	16	84879426	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	34133168	84879426	5475327	78	89997											
TP53	7157	broad.mit.edu	37	chr17	7577529	7577529	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgatgatggtgaggAtgggcctccggttcatgccg	6	10	16	9	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:7577529A>T	ENST00000420246.2	-	7	884	c.752T>A	c.(751-753)aTc>aAc	p.I251N	TP53_ENST00000413465.2_Missense_Mutation_p.I251N|TP53_ENST00000269305.4_Missense_Mutation_p.I251N|TP53_ENST00000445888.2_Missense_Mutation_p.I251N|TP53_ENST00000359597.4_Missense_Mutation_p.I251N|TP53_ENST00000455263.2_Missense_Mutation_p.I251N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	251	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I251S(11)|p.I251N(10)|p.0?(8)|p.I251T(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)|p.I251fs*13(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)		GATGGTGAGGATGGGCCTCCG	0.582		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)			25	62					0	0	0	0	T	7577529	A	T	7577529	3	4	463	1	0	0	0	0	1	0	0	0	16476	333	12	5	538	5	TP53	17	7577529	Missense_Mutation	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08		7577529	73617681	79	89998											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:7579312C>T	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			24	56					0	0	0	0	T	7579312	C	T	7579312	5	4	463	1	0	0	0	0	0	0	1	0	16476	666	23	1	927	1	TP53	17	7579312	Splice_Site	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	1783	7579312	73615898	80	89999											
CA10	56934	broad.mit.edu	37	chr17	49713312	49713312	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacccatcgtaagtgatgaaActagaggtctctggatatag	13	10	11	7	1	1	3	0	2	1	1	3	5	1	4	1	2	1	1	1	2	5	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:49713312A>G	ENST00000451037.2	-	7	1633	c.693T>C	c.(691-693)agT>agC	p.S231S	CA10_ENST00000570565.1_Silent_p.S156S|CA10_ENST00000285273.4_Silent_p.S231S|CA10_ENST00000340813.6_Silent_p.S237S|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Silent_p.S231S	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	231					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AAGTGATGAAACTAGAGGTCT	0.393													37	77					0	0	0	0	G	49713312	A	G	49713312	2	3	463	1	0	0	0	0	0	0	0	1	2536	40	2	5		5	CA10	17	49713312	Silent	SNP	A	TCGA-P3-A6T0-01A-12D-A34J-08	42134000	49713312	31481898	81	90000											
ZNF516	9658	broad.mit.edu	37	chr18	74153250	74153250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtcttcggcagcctcGtcggccaggccagagcccgg	5	6	13	17	4	1	1	0	0	1	1	4	1	1	1	5	4	2	1	5	4	0	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:74153250G>A	ENST00000443185.2	-	3	2078	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGGCAGCCTCGTCGGCCAGGC	0.701													14	19					0	0	0	0	A	74153250	G	A	74153250	2	1	463	1	0	0	0	0	0	0	0	1	18055	1136	40	1		1	ZNF516	18	74153250	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		74153250	3923998	82	90001											
KEAP1	9817	broad.mit.edu	37	chr19	10602863	10602863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcggactcgcagcgcaCgttcaggtcgtcccggctga	6	7	13	15	6	1	1	1	1	0	0	5	3	2	2	2	3	1	4	2	3	0	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:10602863C>T	ENST00000171111.5	-	3	1262	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.V239M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	239	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCGCAGCGCACGTTCAGGTCG	0.637													41	30					0	0	0	0	T	10602863	C	T	10602863	3	4	463	1	0	0	0	0	1	0	0	0	8193	536	19	1	1175	1	KEAP1	19	10602863	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		10602863	48526120	83	90002											
EPOR	2057	broad.mit.edu	37	chr19	11489042	11489042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccctgggaggtcctcaCtgggcgggttccggggcagc	4	6	18	13	2	1	0	1	0	0	0	3	1	3	1	3	7	1	2	3	7	0	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:11489042C>T	ENST00000222139.6	-	8	1249	c.1145G>A	c.(1144-1146)aGt>aAt	p.S382N	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	382						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GAGGTCCTCACTGGGCGGGTT	0.612											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	17					0	0	0	0	T	11489042	C	T	11489042	3	4	463	1	0	0	0	0	1	0	0	0	5227	565	20	4	385	4	EPOR	19	11489042	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	886179	11489042	47639941	84	90003											
ZNF44	51710	broad.mit.edu	37	chr19	12361173	12361173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacagccacatcttcaaagGtcactgagtcctaaaacatt	14	10	5	12	0	4	1	3	1	1	0	5	1	5	1	2	1	2	0	2	1	3	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:12361173G>A	ENST00000426973.1	-	2	43	c.44C>T	c.(43-45)aCc>aTc	p.T15I				P15621	ZNF44_HUMAN	zinc finger protein 44	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ATCTTCAAAGGTCACTGAGTC	0.443													20	55					0	0	0	0	A	12361173	G	A	12361173	3	1	463	1	0	0	0	0	1	0	0	0	18007	1276	44	4		4	ZNF44	19	12361173	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	872131	12361173	46767810	85	90004											
ZFP14	57677	broad.mit.edu	37	chr19	36831234	36831234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccagtatgaattctctgGtgttgagtaagaaatgaata	14	13	9	5	0	2	4	1	3	1	1	3	4	2	4	1	1	0	3	1	1	6	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:36831234G>A	ENST00000270001.7	-	5	1609	c.1494C>T	c.(1492-1494)caC>caT	p.H498H		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GAATTCTCTGGTGTTGAGTAA	0.393													36	79					0	0	0	0	A	36831234	G	A	36831234	2	1	463	1	0	0	0	0	0	0	0	1	17734	1252	44	4		4	ZFP14	19	36831234	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	24470061	36831234	22297749	86	90005											
RYR1	6261	broad.mit.edu	37	chr19	39058417	39058417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcctgccctgcagtgccGagaatggggagaaggaagaa	11	6	15	9	1	0	3	0	0	0	3	1	6	1	4	3	3	3	1	3	3	4	0			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:39058417G>A	ENST00000355481.4	+	92	13635	c.13504G>A	c.(13504-13506)Gag>Aag	p.E4502K	RYR1_ENST00000359596.3_Missense_Mutation_p.E4507K|RYR1_ENST00000360985.3_Missense_Mutation_p.E4502K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4507	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCAGTGCCGAGAATGGGGA	0.597													30	44					0	0	0	0	A	39058417	G	A	39058417	3	1	463	1	0	0	0	0	1	0	0	0	13853	1059	37	1	13889	1	RYR1	19	39058417	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	2227183	39058417	20070566	87	90006											
CIC	23152	broad.mit.edu	37	chr19	42791524	42791524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctctaccgcccggaaaaCgtcggacccagtccctcagt	8	7	9	17	4	2	0	1	0	1	0	4	2	3	2	5	2	3	0	5	2	3	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:42791524C>T	ENST00000572681.2	+	5	3300	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	CIC_ENST00000575354.2_Missense_Mutation_p.R169C|CIC_ENST00000160740.3_Missense_Mutation_p.R169C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	169	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCGGAAAACGTCGGACCCA	0.602			"Mis, F, S"		oligodendroglioma								35	83					0	0	0	0	T	42791524	C	T	42791524	3	4	463	1	0	0	0	0	1	0	0	0	3453	536	19	1	519	1	CIC	19	42791524	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	3733107	42791524	16337459	88	90007											
ZNF45	7596	broad.mit.edu	37	chr19	44417673	44417673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactcctcacatttgtatgGtttttctccggtgtgaactc	7	16	7	11	1	2	1	1	1	1	0	5	1	3	1	2	2	1	2	2	2	2	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:44417673G>T	ENST00000269973.5	-	10	3005	c.1915C>A	c.(1915-1917)Cca>Aca	p.P639T	ZNF45_ENST00000589703.1_Missense_Mutation_p.P639T|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	639					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CATTTGTATGGTTTTTCTCCG	0.478													57	104					7.47603e-22	8.19112e-22	1	0	T	44417673	G	T	44417673	3	4	463	1	0	0	0	0	1	0	0	0	18016	1261	44	4	137	4	ZNF45	19	44417673	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	1626149	44417673	14711310	89	90008											
ZNF766	90321	broad.mit.edu	37	chr19	52793356	52793356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaaagcaggaaacaaGcctattacaaatcaacttgg	19	6	8	8	0	1	1	1	0	0	1	1	2	1	2	1	2	6	2	1	2	8	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:52793356G>A	ENST00000439461.1	+	4	355	c.312G>A	c.(310-312)aaG>aaA	p.K104K	ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.K119K|ZNF766_ENST00000359102.4_Silent_p.K119K|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CAGGAAACAAGCCTATTACAA	0.383													7	77					0	0	0	0	A	52793356	G	A	52793356	2	1	463	1	0	0	0	0	0	0	0	1	18234	962	34	4		4	ZNF766	19	52793356	Silent	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	8375683	52793356	6335627	90	90009											
ZNF580	51157	broad.mit.edu	37	chr19	56154293	56154293	+	Frame_Shift_Del	DEL	C	C	-																															ccacctgtcgcggcatcgcgCcacgcaccgcgcccgcgccg																										TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:56154293delC	ENST00000543039.1	+	1	876	c.419delC	c.(418-420)gcfs	p.A140fs	ZNF580_ENST00000545125.1_Frame_Shift_Del_p.A140fs|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Frame_Shift_Del_p.A140fs	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCATCGCGCCACGCAccgc	0.741													2	4	---	---	---	---					-	56154293	C	-	56154293	7	5	463	1	0	1	0	1	0	0	0	0	18107	739	26	0	421	0	ZNF580	19	56154293	Frame_Shift_Del	DEL	C	TCGA-P3-A6T0-01A-12D-A34J-08	3360937	56154293	2974690	91	90010											
VN1R1	57191	broad.mit.edu	37	chr19	57967712	57967712	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaggaagctaatccctGattttacttttccaaaagcc	13	12	7	9	0	0	2	0	2	0	0	2	4	2	3	3	1	3	1	3	1	6	5			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:57967712G>T	ENST00000321039.3	-	1	142	c.143C>A	c.(142-144)tCa>tAa	p.S48*	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	48					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCTAATCCCTGATTTTACTTT	0.358													27	65					5.61819e-17	5.94867e-17	1	0	T	57967712	G	T	57967712	4	4	463	1	0	0	0	0	0	1	0	0	17274	1294	45	2	922	2	VN1R1	19	57967712	Nonsense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	1813419	57967712	1161271	92	90011											
PREX1	57580	broad.mit.edu	37	chr20	47266579	47266579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtttgcgtccaaagcGgatgctgaaggacctgccca	9	7	15	10	2	0	1	0	1	0	0	1	4	1	4	3	4	4	2	3	4	2	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr20:47266579G>A	ENST00000396220.1	-	24	3005	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C	PREX1_ENST00000371941.3_Missense_Mutation_p.R995C			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	995					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGTCCAAAGCGGATGCTGAAG	0.547													92	57					0	0	0	0	A	47266579	G	A	47266579	3	1	463	1	0	0	0	0	1	0	0	0	12556	1116	39	1	2064	1	PREX1	20	47266579	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		47266579	15758941	93	90012											
CLDN17	26285	broad.mit.edu	37	chr21	31538710	31538710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgggctgtttccagggCaggcgggagagccaacaagg	8	4	18	11	2	0	1	0	0	0	1	1	2	1	1	3	6	2	3	3	6	2	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr21:31538710C>A	ENST00000286808.3	-	1	261	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	76					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTTTCCAGGGCAGGCGGGAGA	0.572													22	57					6.32553e-13	6.64181e-13	1	0	A	31538710	C	A	31538710	3	1	463	1	0	0	0	0	1	0	0	0	3508	710	25	4	452	4	CLDN17	21	31538710	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		31538710	16591185	94	90013											
UBE2L3	7332	broad.mit.edu	37	chr22	21947165	21947165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggagcttgaagaaatcCgcaaatgtgggatgaaaaac	18	6	11	6	1	0	3	0	2	0	1	1	5	1	5	1	2	3	2	1	2	6	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:21947165C>T	ENST00000342192.4	+	2	241	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.R73C	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	15					cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					TGAAGAAATCCGCAAATGTGG	0.413													73	43					0	0	0	0	T	21947165	C	T	21947165	3	4	463	1	0	0	0	0	1	0	0	0	16959	652	23	1	49	1	UBE2L3	22	21947165	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08		21947165	29357401	95	90014											
NF2	4771	broad.mit.edu	37	chr22	30051610	30051610	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgtatcagatgactccgGaaatgtgggaggagagaatt	13	10	13	5	1	2	3	1	1	1	2	3	7	3	6	1	3	0	1	1	3	3	2	rs74315495		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:30051610G>T	ENST00000338641.4	+	6	985	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	NF2_ENST00000397789.3_Nonsense_Mutation_p.E182*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E182*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E99*|NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Nonsense_Mutation_p.E182*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E99*|NF2_ENST00000361166.4_Nonsense_Mutation_p.E182*|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Nonsense_Mutation_p.E141*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E140*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	182	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GATGACTCCGGAAATGTGGGA	0.393			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				19	24					1.90627e-21	2.0706e-21	1	0	T	30051610	G	T	30051610	4	4	463	1	0	0	0	0	0	1	0	0	10427	1175	41	2	566	2	NF2	22	30051610	Nonsense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	8104445	30051610	21252956	96	90015											
PPARA	5465	broad.mit.edu	37	chr22	46614182	46614182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctttcggcgaacgattcGactcaagctggtgtatgaca	9	12	10	10	4	2	1	1	1	1	0	4	4	2	1	0	2	2	2	0	2	3	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:46614182G>A	ENST00000396000.2	+	5	657	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	PPARA_ENST00000402126.1_Missense_Mutation_p.R131Q|PPARA_ENST00000434345.2_Missense_Mutation_p.R131Q|PPARA_ENST00000407236.1_Missense_Mutation_p.R131Q|PPARA_ENST00000262735.5_Missense_Mutation_p.R131Q			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	131					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CGAACGATTCGACTCAAGCTG	0.468													13	39					0	0	0	0	A	46614182	G	A	46614182	3	1	463	1	0	0	0	0	1	0	0	0	12368	1058	37	1	402	1	PPARA	22	46614182	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	16562572	46614182	4690384	97	90016											
HDAC10	83933	broad.mit.edu	37	chr22	50686413	50686413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatccggcgttgtcagggCaacagcggtgcggacagagg	9	6	17	9	4	1	1	1	0	0	1	2	3	2	2	1	5	3	2	1	5	2	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:50686413C>T	ENST00000216271.5	-	13	1595	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	HDAC10_ENST00000349505.4_Missense_Mutation_p.A395T|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A365T	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	415					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTTGTCAGGGCAACAGCGGTG	0.652													18	15					0	0	0	0	T	50686413	C	T	50686413	3	4	463	1	0	0	0	0	1	0	0	0	7055	710	25	4	798	4	HDAC10	22	50686413	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	4072231	50686413	618153	98	90017											
WWC3	55841	broad.mit.edu	37	chrX	10109536	10109536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctcccagccgacgacGtctgatggagtgcattgtgc	6	10	11	14	3	2	1	0	1	2	0	4	4	3	2	3	1	3	1	3	1	0	1			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:10109536G>A	ENST00000380861.4	+	23	3665	c.3274G>A	c.(3274-3276)Gtc>Atc	p.V1092I	WWC3_ENST00000454666.1_Missense_Mutation_p.V1092I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1092										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCCGACGACGTCTGATGGAG	0.418													38	40					0	0	0	0	A	10109536	G	A	10109536	3	1	463	1	0	0	0	0	1	0	0	0	17509	1145	40	1	3360	1	WWC3	23	10109536	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08		10109536	145161024	99	90018											
CACNA1F	778	broad.mit.edu	37	chrX	49087678	49087678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccaggttgtggttggCagtgttggagtcgtcctcag	5	13	14	9	1	1	0	1	0	0	0	3	1	2	1	3	4	1	4	3	4	1	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:49087678C>T	ENST00000376265.2	-	3	428	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A123T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A58T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	123					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTGTGGTTGGCAGTGTTGGAG	0.622													4	2					0	0	0	0	T	49087678	C	T	49087678	3	4	463	1	0	0	0	0	1	0	0	0	2568	710	25	4	5750	4	CACNA1F	23	49087678	Missense_Mutation	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	38978142	49087678	106182882	100	90019											
SLC7A3	84889	broad.mit.edu	37	chrX	70145793	70145793	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccgaagtagatagcaaagCctagtggggaaaggtagctg	14	6	15	6	1	0	1	0	0	0	1	0	3	0	2	2	3	4	4	2	3	7	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:70145793C>T	ENST00000374299.3	-	12	1874	c.1729_splice	c.e12-1	p.G577_splice	SLC7A3_ENST00000298085.4_Splice_Site_p.G577_splice			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	577					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GATAGCAAAGCCTAGTGGGGA	0.498													24	75					0	0	0	0	T	70145793	C	T	70145793	5	4	463	1	0	0	0	0	0	0	1	0	14786	753	26	4	133	4	SLC7A3	23	70145793	Splice_Site	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	21058115	70145793	85124767	101	90020											
BTK	695	broad.mit.edu	37	chrX	100630195	100630195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaagagaaacaggcgcttCttgaagtttagaggtgatgt	12	11	13	5	1	2	4	1	2	1	2	2	5	2	4	0	2	1	2	0	2	4	4			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:100630195C>T	ENST00000308731.7	-	2	241	c.78G>A	c.(76-78)aaG>aaA	p.K26K	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.K26K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	26	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACAGGCGCTTCTTGAAGTTTA	0.428									Agammaglobulinemia, X-linked				96	196					0	0	0	0	T	100630195	C	T	100630195	2	4	463	1	0	0	0	0	0	0	0	1	1566	912	32	2		2	BTK	23	100630195	Silent	SNP	C	TCGA-P3-A6T0-01A-12D-A34J-08	30484402	100630195	54640365	102	90021											
NXF3	56000	broad.mit.edu	37	chrX	102337168	102337168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggtcccaggtggtgacaGagggtacaactgactttatg	10	9	14	8	0	0	3	0	2	0	1	1	3	1	3	1	4	2	1	1	4	3	3			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:102337168G>C	ENST00000425463.2	-	8	941	c.638C>G	c.(637-639)tCt>tGt	p.S213C	NXF3_ENST00000395065.3_Intron|NXF3_ENST00000425644.1_Intron			Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	305						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			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						GGTGGTGACAGAGGGTACAAC	0.562													56	115					0	0	0	0	C	102337168	G	C	102337168	3	2	463	1	0	0	0	0	1	0	0	0	10856	957	33	2		2	NXF3	23	102337168	Missense_Mutation	SNP	G	TCGA-P3-A6T0-01A-12D-A34J-08	1706973	102337168	52933392	103	90022											
PLXNA3	55558	broad.mit.edu	37	chrX	153696262	153696262	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtacaagcgcaagacTcaggacgcggaccgtaccct	10	5	13	13	5	1	1	1	0	0	1	1	3	1	3	2	3	3	3	2	3	4	2			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:153696262T>A	ENST00000369682.3	+	21	3913	c.3738T>A	c.(3736-3738)acT>acA	p.T1246T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1246					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCGCAAGACTCAGGACGCGG	0.687													48	57					0	0	0	0	A	153696262	T	A	153696262	2	1	463	1	0	0	0	0	0	0	0	1	12193	1538	54	5		5	PLXNA3	23	153696262	Silent	SNP	T	TCGA-P3-A6T0-01A-12D-A34J-08	51359094	153696262	1574298	104	90023											
CLCNKA	1187	broad.mit.edu	37	chr1	16357047	16357047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagtgcatgcactgccCgtgctgatggcggtgctggc	6	9	15	11	2	0	2	0	1	0	1	0	2	0	2	1	3	5	4	1	3	1	1	rs143389794		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:16357047C>T	ENST00000375692.1	+	16	1628	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	CLCNKA_ENST00000331433.4_Silent_p.P500P|CLCNKA_ENST00000439316.2_Silent_p.P457P|CLCNKA_ENST00000420078.1_Silent_p.P500P|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	500					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGCACTGCCCGTGCTGATGG	0.627													28	80					0	0	0	0	T	16357047	C	T	16357047	2	4	464	1	0	0	0	0	0	0	0	1	3499	639	23	1		1	CLCNKA	1	16357047	Silent	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		16357047	232893574	1	90024											
HSPG2	3339	broad.mit.edu	37	chr1	22222715	22222715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcatcatcagaaaggtacGaatgtgtccagcgcatttgg	11	10	10	10	2	3	1	3	0	0	1	4	2	4	1	2	2	2	2	2	2	3	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:22222715G>A	ENST00000374695.3	-	2	231	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	51					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGAAAGGTACGAATGTGTCCA	0.562													61	103					0	0	0	0	A	22222715	G	A	22222715	3	1	464	1	0	0	0	0	1	0	0	0	7483	1059	37	1	13407	1	HSPG2	1	22222715	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	5865668	22222715	227027906	2	90025											
SLC6A17	388662	broad.mit.edu	37	chr1	110734821	110734821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggccaacatcatgaatgaGaagtgtgtggtcgagtaggt	13	9	14	5	1	1	2	1	2	0	1	2	4	1	2	1	3	1	1	1	3	5	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:110734821G>A	ENST00000331565.4	+	7	1577	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	364					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCATGAATGAGAAGTGTGTGG	0.582													17	34					0	0	0	0	A	110734821	G	A	110734821	2	1	464	1	0	0	0	0	0	0	0	1	14768	933	33	2		2	SLC6A17	1	110734821	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	88512106	110734821	138515800	3	90026											
NME7	29922	broad.mit.edu	37	chr1	169256566	169256566	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagcatggggtttaacAatgcaacaggtacaattagt	14	10	10	7	0	0	1	0	1	0	0	0	1	0	1	0	3	5	4	0	3	6	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:169256566A>G	ENST00000367811.3	-	7	985	c.729T>C	c.(727-729)atT>atC	p.I243I	NME7_ENST00000472647.1_Silent_p.I207I|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	243					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GGGGTTTAACAATGCAACAGG	0.358													107	180					0	0	0	0	G	169256566	A	G	169256566	2	3	464	1	0	0	0	0	0	0	0	1	10566	126	5	5		5	NME7	1	169256566	Silent	SNP	A	TCGA-P3-A6T2-01A-11D-A34J-08	58521745	169256566	79994055	4	90027											
PRG4	10216	broad.mit.edu	37	chr1	186276363	186276363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacccaccactcccaaGgagcctgcacccaccaccac	10	3	5	23	0	0	0	0	0	0	0	1	1	1	1	8	1	3	2	8	1	1	0	rs113621509		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:186276363G>T	ENST00000445192.2	+	7	1557	c.1512G>T	c.(1510-1512)aaG>aaT	p.K504N	PRG4_ENST00000367486.3_Missense_Mutation_p.K461N|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.K411N|PRG4_ENST00000367483.4_Missense_Mutation_p.K463N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	504	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.647													45	72					2.59344e-38	2.92516e-38	1	0	T	186276363	G	T	186276363	3	4	464	1	0	0	0	0	1	0	0	0	12561	991	35	4	1534	4	PRG4	1	186276363	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	17019797	186276363	62974258	5	90028											
IGFN1	91156	broad.mit.edu	37	chr1	201196084	201196084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggttcctggtgggcctgCggtcccacctgctgccccag	2	8	13	18	2	0	0	0	0	0	0	2	0	2	0	7	4	3	2	7	4	0	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:201196084C>T	ENST00000335211.4	+	23	10991	c.10861C>T	c.(10861-10863)Cgg>Tgg	p.R3621W	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTGGGCCTGCGGTCCCACCT	0.667													4	96					0	0	0	0	T	201196084	C	T	201196084	3	4	464	1	0	0	0	0	1	0	0	0	7643	759	27	1	10947	1	IGFN1	1	201196084	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	14919721	201196084	48054537	6	90029											
IAH1	285148	broad.mit.edu	37	chr2	9616151	9616151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatggggagcatcgctGgctgacaggctggtcaggtg	6	8	20	7	1	1	1	1	1	0	0	2	3	1	3	0	8	1	4	0	8	0	0			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:9616151G>A	ENST00000497473.1	+	2	154	c.117G>A	c.(115-117)ctG>ctA	p.L39L	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_Intron|IAH1_ENST00000470914.1_Intron	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	39					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGCATCGCTGGCTGACAGGC	0.478													24	34					0	0	0	0	A	9616151	G	A	9616151	2	1	464	1	0	0	0	0	0	0	0	1	7524	1335	47	4		4	IAH1	2	9616151	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08		9616151	233583222	7	90030											
LRP1B	53353	broad.mit.edu	37	chr2	141641418	141641418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaaagcaatggccctgggGtgttccatggctcctgctat	7	11	11	12	0	0	0	0	0	0	0	3	0	3	0	4	4	2	4	4	4	3	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:141641418G>T	ENST00000389484.3	-	25	5108	c.4137C>A	c.(4135-4137)caC>caA	p.H1379Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1379					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGCCCTGGGGTGTTCCATGG	0.398										TSP Lung(27;0.18)			55	88					1.93748e-29	2.16018e-29	1	0	T	141641418	G	T	141641418	3	4	464	1	0	0	0	0	1	0	0	0	9019	1252	44	4	9930	4	LRP1B	2	141641418	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	132025267	141641418	101557955	8	90031											
CASP8	841	broad.mit.edu	37	chr2	202150039	202150039	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgagagagcgatgtcctCggtaagttttgcctactcag	8	11	12	10	2	1	2	1	1	0	1	3	4	2	2	3	1	3	2	3	1	2	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:202150039C>T	ENST00000358485.4	+	8	1676	c.1481_splice	c.e8+1	p.R494_splice	CASP8_ENST00000432109.2_Splice_Site_p.R435_splice|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice|CASP8_ENST00000264275.5_Splice_Site_p.R452_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502										HNSCC(4;0.00038)			19	20					0	0	0	0	T	202150039	C	T	202150039	5	4	464	1	0	0	0	0	0	0	1	0	2702	898	31	1	1610	1	CASP8	2	202150039	Splice_Site	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	60508621	202150039	41049334	9	90032											
OXSM	54995	broad.mit.edu	37	chr3	25833227	25833227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctggaggtacagattcttGtattagccctttatctcttg	7	16	10	8	0	2	1	0	0	2	1	3	2	2	2	1	3	2	3	1	3	4	8			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:25833227G>T	ENST00000280701.3	+	2	815	c.716G>T	c.(715-717)tGt>tTt	p.C239F	OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	239					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ACAGATTCTTGTATTAGCCCT	0.488													38	85					1.5731e-28	1.73399e-28	1	0	T	25833227	G	T	25833227	3	4	464	1	0	0	0	0	1	0	0	0	11406	1377	48	4	718	4	OXSM	3	25833227	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08		25833227	172189203	10	90033											
MYRIP	25924	broad.mit.edu	37	chr3	40231844	40231844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggaggaggccccccacAccacagaccggcgggccagg	9	0	15	17	3	0	1	0	0	0	1	0	3	0	3	7	6	1	0	7	6	0	0			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:40231844A>G	ENST00000302541.6	+	10	1897	c.1555A>G	c.(1555-1557)Acc>Gcc	p.T519A	MYRIP_ENST00000425621.1_Missense_Mutation_p.T519A|MYRIP_ENST00000396217.3_Missense_Mutation_p.T430A|MYRIP_ENST00000444716.1_Missense_Mutation_p.T519A|MYRIP_ENST00000539167.1_Missense_Mutation_p.T332A|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	519	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGCCCCCCACACCACAGACCG	0.637													35	49					0	0	0	0	G	40231844	A	G	40231844	3	3	464	1	0	0	0	0	1	0	0	0	10170	159	6	5	1589	5	MYRIP	3	40231844	Missense_Mutation	SNP	A	TCGA-P3-A6T2-01A-11D-A34J-08	14398617	40231844	157790586	11	90034											
ATRIP	84126	broad.mit.edu	37	chr3	48506419	48506419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaggtcctgcatcagtttGaccaggtgatgccgggggtc	6	10	16	9	1	1	2	1	2	0	0	3	3	2	3	3	5	2	2	3	5	0	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:48506419G>A	ENST00000412052.1	+	12	2428	c.1966G>A	c.(1966-1968)Gac>Aac	p.D656N	ATRIP_ENST00000320211.3_Missense_Mutation_p.D749N|ATRIP_ENST00000346691.4_Missense_Mutation_p.D722N|ATRIP_ENST00000357105.6_Missense_Mutation_p.D622N	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	749					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATCAGTTTGACCAGGTGAT	0.612								Other conserved DNA damage response genes					21	46					0	0	0	0	A	48506419	G	A	48506419	3	1	464	1	0	0	0	0	1	0	0	0	1209	1290	45	2	2291	2	ATRIP	3	48506419	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	8274575	48506419	149516011	12	90035											
FRAS1	80144	broad.mit.edu	37	chr4	79203976	79203976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacttttttgcgtaggaGggagagaagtgggaagatgg	10	11	16	4	1	1	2	1	0	0	2	1	6	1	5	0	4	1	1	0	4	3	5			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:79203976G>T	ENST00000264895.6	+	12	1550	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	FRAS1_ENST00000325942.6_Missense_Mutation_p.E370D|FRAS1_ENST00000264899.6_Missense_Mutation_p.E370D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	370	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGCGTAGGAGGGAGAGAAGT	0.498													32	61					1.59932e-28	1.74308e-28	1	0	T	79203976	G	T	79203976	3	4	464	1	0	0	0	0	1	0	0	0	6089	991	35	4	1156	4	FRAS1	4	79203976	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08		79203976	111950300	13	90036											
FRAS1	80144	broad.mit.edu	37	chr4	79372955	79372955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatagtcatggaacaggaGaacctggagggagctttgct	13	9	13	6	0	1	1	1	0	0	1	1	5	1	4	1	4	4	2	1	4	5	3			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:79372955G>A	ENST00000264895.6	+	46	6933	c.6493G>A	c.(6493-6495)Gaa>Aaa	p.E2165K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2164					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGAACAGGAGAACCTGGAGG	0.388													9	20					0	0	0	0	A	79372955	G	A	79372955	3	1	464	1	0	0	0	0	1	0	0	0	6089	943	33	2	6750	2	FRAS1	4	79372955	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	168979	79372955	111781321	14	90037											
ADH5	128	broad.mit.edu	37	chr4	100003216	100003216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaaacaaccctcaggatCagctccactcagggtatagg	13	7	10	11	0	3	0	3	0	0	0	4	2	4	2	2	4	3	2	2	4	5	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:100003216C>T	ENST00000296412.8	-	3	216	c.166G>A	c.(166-168)Gat>Aat	p.D56N	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	56					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CCCTCAGGATCAGCTCCACTC	0.468													11	30					0	0	0	0	T	100003216	C	T	100003216	3	4	464	1	0	0	0	0	1	0	0	0	311	826	29	2	986	2	ADH5	4	100003216	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	20630261	100003216	91151060	15	90038											
DDX60	55601	broad.mit.edu	37	chr4	169227710	169227710	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttcgtctgcaactatcagGaaatatgggtaactctcttc	10	13	7	11	1	3	0	1	0	2	0	6	1	3	1	1	2	3	2	1	2	5	5			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:169227710G>A	ENST00000393743.3	-	5	717	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	142							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAACTATCAGGAAATATGGGT	0.393													34	75					0	0	0	0	A	169227710	G	A	169227710	2	1	464	1	0	0	0	0	0	0	0	1	4410	1165	41	2		2	DDX60	4	169227710	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	69224494	169227710	21926566	16	90039											
ERBB2IP	55914	broad.mit.edu	37	chr5	65350201	65350201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcagagagcacagaaaatCaaagttatgctaaacattct	18	9	7	7	0	3	2	2	0	1	2	3	4	3	2	0	0	3	3	0	0	6	3			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:65350201C>G	ENST00000284037.5	+	21	3444	c.3055C>G	c.(3055-3057)Caa>Gaa	p.Q1019E	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q1015E|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q1019E	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1019					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CACAGAAAATCAAAGTTATGC	0.408													33	55					0	0	0	0	G	65350201	C	G	65350201	3	3	464	1	0	0	0	0	1	0	0	0	5245	827	29	2	3129	2	ERBB2IP	5	65350201	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		65350201	115565059	17	90040											
JMY	133746	broad.mit.edu	37	chr5	78602238	78602238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgaaaaaatccaacagcGcactcggattgaagatgaat	18	7	8	8	2	0	4	0	3	0	1	2	5	1	5	1	1	2	1	1	1	7	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:78602238G>A	ENST00000396137.4	+	7	2384	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	641					'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			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)		ATCCAACAGCGCACTCGGATT	0.313													5	308					0	0	0	0	A	78602238	G	A	78602238	3	1	464	1	0	0	0	0	1	0	0	0	8010	1087	38	1	1948	1	JMY	5	78602238	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	13252037	78602238	102313022	18	90041											
ADAMTS19	171019	broad.mit.edu	37	chr5	128956418	128956418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgacgtttcatggtctcGatgtagcaaggaagatttgg	9	13	14	5	2	2	2	1	1	1	1	3	4	2	3	0	4	1	3	0	4	3	3			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:128956418G>A	ENST00000274487.4	+	9	1713	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	523	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R523Q(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCATGGTCTCGATGTAGCAAG	0.388													36	143					0	0	0	0	A	128956418	G	A	128956418	3	1	464	1	0	0	0	0	1	0	0	0	264	1058	37	1	1602	1	ADAMTS19	5	128956418	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	50354180	128956418	51958842	19	90042											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307492	140307492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgaacgatcatgcccccGaactggacttcctgactctt	9	10	8	14	3	2	2	1	2	1	0	3	5	3	3	3	1	3	0	3	1	2	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:140307492G>A	ENST00000253807.2	+	1	1015	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2												p.E339K(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCCCCCGAACTGGACTT	0.522													59	121					0	0	0	0	A	140307492	G	A	140307492	3	1	464	1	0	0	0	0	1	0	0	0	11603	1059	37	1	1017	1	PCDHAC1	5	140307492	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	11351074	140307492	40607768	20	90043											
DDX41	51428	broad.mit.edu	37	chr5	176940689	176940689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggcgggggcggcaccttGaagtaggagaagatggtacg	9	5	19	8	4	0	3	0	1	0	2	0	4	0	3	2	6	1	3	2	6	4	3			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:176940689G>A	ENST00000507955.1	-	10	1618	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	365	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCGGCACCTTGAAGTAGGAGA	0.657													37	75					0	0	0	0	A	176940689	G	A	176940689	2	1	464	1	0	0	0	0	0	0	0	1	4393	1281	45	2		2	DDX41	5	176940689	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	36633197	176940689	3974571	21	90044											
DUSP22	56940	broad.mit.edu	37	chr6	348155	348155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgcatacatcatgaccGtcactgactttggctgggag	9	11	11	10	2	2	3	2	3	0	0	3	4	2	4	1	2	1	2	1	2	1	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:348155G>A	ENST00000604971.1	+	3	1120	c.7G>A	c.(7-9)Gtc>Atc	p.V3I	DUSP22_ENST00000605315.1_Missense_Mutation_p.V3I|DUSP22_ENST00000419235.2_Missense_Mutation_p.V106I|DUSP22_ENST00000605863.1_Missense_Mutation_p.V3I|DUSP22_ENST00000344450.5_Missense_Mutation_p.V106I|DUSP22_ENST00000605035.1_Missense_Mutation_p.V3I|DUSP22_ENST00000603453.1_Missense_Mutation_p.V3I			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	106					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V106I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CATCATGACCGTCACTGACTT	0.602													58	197					0	0	0	0	A	348155	G	A	348155	3	1	464	1	0	0	0	0	1	0	0	0	4857	1145	40	1	338	1	DUSP22	6	348155	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08		348155	170766912	22	90045											
HTR1E	3354	broad.mit.edu	37	chr6	87726087	87726087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaaccctctgctctatacGagttttaatgaagactttaa	13	14	5	9	1	3	2	1	1	2	1	3	3	3	2	1	0	3	2	1	0	6	6			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:87726087G>A	ENST00000305344.4	+	2	1738	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	HTR1E_ENST00000369584.1_Silent_p.T345T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	345					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGCTCTATACGAGTTTTAATG	0.443													40	79					0	0	0	0	A	87726087	G	A	87726087	2	1	464	1	0	0	0	0	0	0	0	1	7492	1045	37	1		1	HTR1E	6	87726087	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	87377932	87726087	83388980	23	90046											
NEUROD6	63974	broad.mit.edu	37	chr7	31378801	31378801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcttaatttgcttctGgtcctcgcattctctagaaa	7	17	7	10	1	3	1	0	0	3	1	6	1	4	1	1	2	1	3	1	2	3	6			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:31378801G>T	ENST00000297142.3	-	2	404	c.82C>A	c.(82-84)Cag>Aag	p.Q28K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	28					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATTTGCTTCTGGTCCTCGCAT	0.413													52	92					1.32667e-27	1.42986e-27	1	0	T	31378801	G	T	31378801	3	4	464	1	0	0	0	0	1	0	0	0	10421	1357	47	4	935	4	NEUROD6	7	31378801	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08		31378801	127759862	24	90047											
GRM3	2913	broad.mit.edu	37	chr7	86394749	86394749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttgggtgttcacattttGgatacatgttcaagggatac	11	14	11	5	0	2	0	2	0	0	0	2	2	2	2	0	3	2	3	0	3	4	7			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:86394749G>C	ENST00000361669.2	+	2	1387	c.288G>C	c.(286-288)ttG>ttC	p.L96F	GRM3_ENST00000439827.1_Missense_Mutation_p.L96F|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.L94F|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	96				L -> F (in Ref. 3; AAH41407).	synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCACATTTTGGATACATGTT	0.428													75	130					0	0	0	0	C	86394749	G	C	86394749	3	2	464	1	0	0	0	0	1	0	0	0	6848	1339	47	4	290	4	GRM3	7	86394749	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	55015948	86394749	72743914	25	90048											
C7orf34	135927	broad.mit.edu	37	chr7	142637512	142637512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcaggtggtggacatGgcccagcaggaagaagacca	12	5	16	8	0	0	2	0	0	0	2	0	4	0	4	2	6	1	2	2	6	2	0			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:142637512G>A	ENST00000409607.3	+	2	323	c.282G>A	c.(280-282)atG>atA	p.M94I		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	69						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TGGTGGACATGGCCCAGCAGG	0.527													39	68					0	0	0	0	A	142637512	G	A	142637512	3	1	464	1	0	0	0	0	1	0	0	0	2412	1348	47	4	288	4	C7orf34	7	142637512	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	56242763	142637512	16501151	26	90049											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585279	70585279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgggcaagatctagtcCgggcattgtcggggtgtccc	7	9	15	10	2	1	1	0	0	1	1	4	1	3	1	2	4	1	3	2	4	3	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:70585279C>T	ENST00000260126.3	-	10	3078	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R736Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	791						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGATCTAGTCCGGGCATTGTC	0.572													32	55					0	0	0	0	T	70585279	C	T	70585279	3	4	464	1	0	0	0	0	1	0	0	0	14819	652	23	1	178	1	SLCO5A1	8	70585279	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		70585279	75778743	27	90050											
SLCO5A1	81796	broad.mit.edu	37	chr8	70594470	70594470	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccagacaagggttaaaGtatgtaattccatctgatcc	13	10	8	10	0	1	2	0	1	1	1	3	2	3	2	4	1	1	3	4	1	5	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:70594470G>A	ENST00000260126.3	-	7	2437	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	SLCO5A1_ENST00000524945.1_Silent_p.Y577Y|SLCO5A1_ENST00000530307.1_Silent_p.Y522Y	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	577	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGGGTTAAAGTATGTAATTC	0.433													50	74					0	0	0	0	A	70594470	G	A	70594470	2	1	464	1	0	0	0	0	0	0	0	1	14819	1024	36	4		4	SLCO5A1	8	70594470	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	9191	70594470	75769552	28	90051											
RUNX1T1	862	broad.mit.edu	37	chr8	92998376	92998376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactgggtctgggttgaCgggactctgctgcctagagt	6	11	15	9	1	2	2	0	1	2	1	2	3	2	3	1	3	4	3	1	3	2	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:92998376C>T	ENST00000523629.1	-	9	1709	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V419I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V430I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V382I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	419					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V419I(1)|p.V382I(1)|p.V430I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTGGGTTGACGGGACTCTGC	0.453													59	102					0	0	0	0	T	92998376	C	T	92998376	3	4	464	1	0	0	0	0	1	0	0	0	13832	536	19	1	575	1	RUNX1T1	8	92998376	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	22403906	92998376	53365646	29	90052											
MAMDC2	256691	broad.mit.edu	37	chr9	72758597	72758597	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgccatctatggatttttAaaaatgagtgacaccctagc	13	13	7	8	0	1	2	0	2	1	0	1	3	1	3	2	1	2	0	2	1	6	6	rs151044274	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:72758597A>T	ENST00000377182.4	+	9	1883	c.1266A>T	c.(1264-1266)ttA>ttT	p.L422F	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	422	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATGGATTTTTAAAAATGAGTG	0.458													116	93					0	0	0	0	T	72758597	A	T	72758597	3	4	464	1	0	0	0	0	1	0	0	0	9272	359	13	5	1300	5	MAMDC2	9	72758597	Missense_Mutation	SNP	A	TCGA-P3-A6T2-01A-11D-A34J-08		72758597	68454834	30	90053											
FKBP15	23307	broad.mit.edu	37	chr9	115941031	115941031	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagtcattttcagctgCagatgagagacctgtgcagt	10	11	12	8	0	2	4	2	2	0	2	2	5	2	4	1	0	4	4	1	0	0	2	rs141462079	by1000genomes	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:115941031C>A	ENST00000238256.3	-	20	2082	c.1965G>T	c.(1963-1965)ctG>ctT	p.L655L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	655					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTTTCAGCTGCAGATGAGAGA	0.478													7	16					0.27861	0.281513	1	0	A	115941031	C	A	115941031	2	1	464	1	0	0	0	0	0	0	0	1	5950	697	25	4		4	FKBP15	9	115941031	Silent	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	43182434	115941031	25272400	31	90054											
NCS1	23413	broad.mit.edu	37	chr9	132988727	132988727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccaaggcagacccgtcCattgtgcaggcgctgtccct	6	9	12	14	2	0	1	0	0	0	1	3	1	3	1	4	3	1	4	4	3	1	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:132988727C>T	ENST00000372398.3	+	7	620	c.534C>T	c.(532-534)tcC>tcT	p.S178S	NCS1_ENST00000458469.1_Silent_p.S160S	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	178	EF-hand 4.|Interaction with IL1RAPL1.			S -> P (in Ref. 4; AAF01804).	negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						CAGACCCGTCCATTGTGCAGG	0.652													5	34					0	0	0	0	T	132988727	C	T	132988727	2	4	464	1	0	0	0	0	0	0	0	1	10310	581	21	4		4	NCS1	9	132988727	Silent	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	17047696	132988727	8224704	32	90055											
ITIH2	3698	broad.mit.edu	37	chr10	7763677	7763677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaactgccgggagactgcGgtagatggggaactggtggt	8	8	17	8	2	0	2	0	0	0	2	0	4	0	3	2	6	4	1	2	6	3	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:7763677G>A	ENST00000358415.4	+	8	970	c.804G>A	c.(802-804)gcG>gcA	p.A268A	ITIH2_ENST00000379587.4_Silent_p.A257A	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGGAGACTGCGGTAGATGGGG	0.557													43	31					0	0	0	0	A	7763677	G	A	7763677	2	1	464	1	0	0	0	0	0	0	0	1	7957	1103	39	1		1	ITIH2	10	7763677	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08		7763677	127771070	33	90056											
SYT15	83849	broad.mit.edu	37	chr10	46969272	46969272	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagttgggtcctagcatgCggctggcagggcctgtcccg	4	9	15	13	2	1	0	1	0	0	0	3	0	3	0	3	4	2	4	3	4	1	2	rs145402665	by1000genomes	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:46969272C>G	ENST00000374325.3	-	2	341	c.189G>C	c.(187-189)ccG>ccC	p.P63P	SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_Silent_p.P63P|SYT15_ENST00000503753.1_Silent_p.P63P	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	63						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCCTAGCATGCGGCTGGCAGG	0.617													11	63					0	0	0	0	G	46969272	C	G	46969272	2	3	464	1	0	0	0	0	0	0	0	1	15562	755	27	3		3	SYT15	10	46969272	Silent	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	39205595	46969272	88565475	34	90057											
CRTAC1	55118	broad.mit.edu	37	chr10	99696030	99696030	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccctgccggtcccgcagCgcgtagtagggtgagctgcg	4	8	15	14	5	0	1	0	1	0	0	2	1	2	1	4	2	4	4	4	2	2	3			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:99696030C>T	ENST00000370597.3	-	3	673	c.318G>A	c.(316-318)gcG>gcA	p.A106A	CRTAC1_ENST00000370591.2_Silent_p.A106A|CRTAC1_ENST00000298819.4_Silent_p.A106A	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	106						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGTCCCGCAGCGCGTAGTAGG	0.617													14	69					0	0	0	0	T	99696030	C	T	99696030	2	4	464	1	0	0	0	0	0	0	0	1	3926	755	27	1		1	CRTAC1	10	99696030	Silent	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	52726758	99696030	35838717	35	90058											
DOCK1	1793	broad.mit.edu	37	chr10	129209189	129209189	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccagacaatgaatttgcgGtaaaaaacaaacaaaccacc	20	5	5	11	1	0	2	0	1	0	1	0	2	0	2	3	1	4	1	3	1	7	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:129209189G>A	ENST00000280333.6	+	43	4474		c.e43+1			NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGAATTTGCGGTAAAAAACAA	0.468													4	33					0	0	0	0	A	129209189	G	A	129209189	5	1	464	1	0	0	0	0	0	0	1	0	4720	1275	44	4	4536	4	DOCK1	10	129209189	Splice_Site	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	29513159	129209189	6325558	36	90059											
HRAS	3265	broad.mit.edu	37	chr11	534288	534288	+	Missense_Mutation	SNP	C	C	A																															gcgcactcttgcccacaccgCcggcgcccaccaccaccagc																								rs104894230		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:534288C>A	ENST00000417302.1	-	2	222	c.35G>T	c.(34-36)gGc>gTc	p.G12V	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12V|HRAS_ENST00000451590.1_Missense_Mutation_p.G12V|HRAS_ENST00000397596.2_Missense_Mutation_p.G12V|HRAS_ENST00000311189.7_Missense_Mutation_p.G12V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			43	28					1.41504e-22	1.49194e-22	1	0	A	534288	C	A	534288	3	1	464	1	0	0	0	0	1	0	0	0	7398	739	26	4	617	4	HRAS	11	534288	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		534288	134472228	37	90060	1108	2									
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	A																															cgcactcttgcccacaccgcCggcgcccaccaccaccagct																								rs104894229		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:534289C>A	ENST00000417302.1	-	2	221	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12C|HRAS_ENST00000451590.1_Missense_Mutation_p.G12C|HRAS_ENST00000397596.2_Missense_Mutation_p.G12C|HRAS_ENST00000311189.7_Missense_Mutation_p.G12C	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			44	27					4.18559e-23	4.46156e-23	1	0	A	534289	C	A	534289	3	1	464	1	0	0	0	0	1	0	0	0	7398	652	23	3	618	3	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	1	534289	134472227	38	90061	1108	2									
OR52E8	390079	broad.mit.edu	37	chr11	5878254	5878254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaagacagcatacaGgatcctgacataggagagaa	17	4	12	8	0	0	4	0	1	0	3	1	7	1	6	1	3	2	2	1	3	4	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:5878254G>A	ENST00000537935.1	-	1	710	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCATACAGGATCCTGACA	0.458													6	158					0	0	0	0	A	5878254	G	A	5878254	2	1	464	1	0	0	0	0	0	0	0	1	11189	991	35	4		4	OR52E8	11	5878254	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	5343965	5878254	129128262	39	90062											
ACCSL	390110	broad.mit.edu	37	chr11	44073268	44073268	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttctgtgtgatccaggCggtaagtcagtgggctctcc	6	12	14	9	1	3	1	1	1	2	0	5	1	4	1	2	4	0	3	2	4	1	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:44073268C>T	ENST00000378832.1	+	5	827	c.772_splice	c.e5+1	p.G257_splice		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	257							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GTGATCCAGGCGGTAAGTCAG	0.512													69	250					0	0	0	0	T	44073268	C	T	44073268	5	4	464	1	0	0	0	0	0	0	1	0	134	782	27	1	789	1	ACCSL	11	44073268	Splice_Site	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	38195014	44073268	90933248	40	90063											
ZNHIT2	741	broad.mit.edu	37	chr11	64884964	64884964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaggagcgctgcaaccgcgGagctctcccagcacctggtc	7	5	14	15	3	1	0	0	0	1	0	3	3	1	3	3	4	5	4	3	4	1	0			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:64884964G>A	ENST00000310597.4	-	1	206	c.162C>T	c.(160-162)ctC>ctT	p.L54L		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	54							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGCAACCGCGGAGCTCTCCCA	0.672													4	6					0	0	0	0	A	64884964	G	A	64884964	2	1	464	1	0	0	0	0	0	0	0	1	18300	1161	41	2		2	ZNHIT2	11	64884964	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	20811696	64884964	70121552	41	90064											
MMP3	4314	broad.mit.edu	37	chr11	102713001	102713001	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcaaaagggtaaaagTctccatgttctagtaggaaa	15	10	9	7	0	3	0	1	0	2	0	5	1	4	1	2	2	0	3	2	2	7	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:102713001T>G	ENST00000299855.5	-	4	765	c.509A>C	c.(508-510)gAc>gCc	p.D170A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	170					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGTAAAAGTCTCCATGTTC	0.413													15	50					0	0	0	0	G	102713001	T	G	102713001	3	3	464	1	0	0	0	0	1	0	0	0	9736	1667	58	5	952	5	MMP3	11	102713001	Missense_Mutation	SNP	T	TCGA-P3-A6T2-01A-11D-A34J-08	37828037	102713001	32293515	42	90065											
TECTA	7007	broad.mit.edu	37	chr11	121028675	121028675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcgcaacggggtgcgCggctgcttcagcaccaagac	7	5	15	14	5	1	1	1	0	0	1	1	1	1	1	1	3	5	5	1	3	2	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:121028675C>T	ENST00000392793.1	+	14	4702	c.4431C>T	c.(4429-4431)cgC>cgT	p.R1477R	TECTA_ENST00000264037.2_Silent_p.R1477R			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGGGTGCGCGGCTGCTTCA	0.682													17	45					0	0	0	0	T	121028675	C	T	121028675	2	4	464	1	0	0	0	0	0	0	0	1	15841	755	27	1		1	TECTA	11	121028675	Silent	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	18315674	121028675	13977841	43	90066											
OR10G8	219869	broad.mit.edu	37	chr11	123901133	123901133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaggaaagctgtggaTggagttgtggccgttttcta	7	12	15	7	1	1	0	0	0	1	0	2	3	2	3	2	5	1	4	2	5	2	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:123901133T>C	ENST00000431524.1	+	1	837	c.804T>C	c.(802-804)gaT>gaC	p.D268D		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGCTGTGGATGGAGTTGTGG	0.527													64	92					0	0	0	0	C	123901133	T	C	123901133	2	2	464	1	0	0	0	0	0	0	0	1	10974	1461	51	5		5	OR10G8	11	123901133	Silent	SNP	T	TCGA-P3-A6T2-01A-11D-A34J-08	2872458	123901133	11105383	44	90067											
OR8B3	390271	broad.mit.edu	37	chr11	124266319	124266319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctaattagaatatatttCttctctgaattttaatcaga	13	19	3	6	0	4	3	1	1	3	2	5	3	4	3	0	0	0	0	0	0	7	9			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:124266319C>G	ENST00000354597.3	-	1	945	c.929G>C	c.(928-930)aGa>aCa	p.R310T		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAATATATTTCTTCTCTGAAT	0.328													40	50					0	0	0	0	G	124266319	C	G	124266319	3	3	464	1	0	0	0	0	1	0	0	0	11299	913	32	2	14	2	OR8B3	11	124266319	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	365186	124266319	10740197	45	90068											
ARID2	196528	broad.mit.edu	37	chr12	46231438	46231438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgctatacatgctcacGgaaatgggagatgttgcttg	10	11	14	6	1	1	1	1	0	0	1	1	4	1	2	0	3	4	4	0	3	3	4	rs146341546	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:46231438G>A	ENST00000334344.6	+	10	1450	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	ARID2_ENST00000422737.1_Silent_p.T277T|ARID2_ENST00000444670.1_Silent_p.T55T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	426					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACATGCTCACGGAAATGGGAG	0.378			"N, S, F"		hepatocellular carcinoma								20	71					0	0	0	0	A	46231438	G	A	46231438	2	1	464	1	0	0	0	0	0	0	0	1	917	1103	39	1		1	ARID2	12	46231438	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08		46231438	87620457	46	90069											
ARID2	196528	broad.mit.edu	37	chr12	46245690	46245690	+	Frame_Shift_Del	DEL	A	A	-																															gtttacatgttcatgaacgtAaaattgaagtcatggagaac																										TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:46245690delA	ENST00000334344.6	+	15	3956	c.3784delA	c.(3784-3786)aafs	p.K1262fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.K872fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.K1113fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1262					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCATGAACGTAAAATTGAAGT	0.423			"N, S, F"		hepatocellular carcinoma								51	22	---	---	---	---					-	46245690	A	-	46245690	7	5	464	1	0	1	0	1	0	0	0	0	917	363	13	0	3842	0	ARID2	12	46245690	Frame_Shift_Del	DEL	A	TCGA-P3-A6T2-01A-11D-A34J-08	14252	46245690	87606205	47	90070											
SMARCC2	6601	broad.mit.edu	37	chr12	56575364	56575364	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcttgtcccgtcgatcTgaatctgggctgttcaccta	5	14	8	14	2	4	1	1	1	3	0	6	2	5	1	3	1	0	2	3	1	2	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:56575364T>C	ENST00000394023.3	-	10	963	c.858A>G	c.(856-858)tcA>tcG	p.S286S	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.S286S|SMARCC2_ENST00000267064.4_Silent_p.S286S|SMARCC2_ENST00000550164.1_Silent_p.S286S	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	286					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCGTCGATCTGAATCTGGGC	0.488													5	155					0	0	0	0	C	56575364	T	C	56575364	2	2	464	1	0	0	0	0	0	0	0	1	14864	1567	55	5		5	SMARCC2	12	56575364	Silent	SNP	T	TCGA-P3-A6T2-01A-11D-A34J-08	10329674	56575364	77276531	48	90071											
XPO4	64328	broad.mit.edu	37	chr13	21382702	21382702	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgaccatggagtcttgtTactctttcttctaataaact	11	16	5	9	0	4	1	0	1	4	0	4	2	4	2	1	1	3	1	1	1	5	6			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr13:21382702T>C	ENST00000400602.2	-	12	1547	c.1512A>G	c.(1510-1512)gtA>gtG	p.V504V	XPO4_ENST00000255305.6_Silent_p.V504V	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	504					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GGAGTCTTGTTACTCTTTCTT	0.358													16	27					0	0	0	0	C	21382702	T	C	21382702	2	2	464	1	0	0	0	0	0	0	0	1	17542	1741	61	5		5	XPO4	13	21382702	Silent	SNP	T	TCGA-P3-A6T2-01A-11D-A34J-08		21382702	93787176	49	90072											
TMTC4	84899	broad.mit.edu	37	chr13	101257365	101257365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtgtttcttggccaaGtctagatgtccccaacgatg	9	13	9	10	1	3	1	1	0	2	1	4	2	4	1	3	1	1	1	3	1	4	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr13:101257365G>A	ENST00000342624.5	-	19	2424	c.2166C>T	c.(2164-2166)gaC>gaT	p.D722D	TMTC4_ENST00000376234.3_Silent_p.D703D|TMTC4_ENST00000328767.5_Silent_p.D592D	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	703						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTTGGCCAAGTCTAGATGTC	0.458													52	93					0	0	0	0	A	101257365	G	A	101257365	2	1	464	1	0	0	0	0	0	0	0	1	16357	1020	36	4		4	TMTC4	13	101257365	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	79874663	101257365	13912513	50	90073											
RNASE2	6036	broad.mit.edu	37	chr14	21424307	21424307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcaaactgcaggtatgCgcagacaccagcaaacatgt	14	9	8	10	1	1	1	1	0	0	1	1	1	1	1	1	1	5	4	1	1	4	3			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:21424307C>T	ENST00000304625.2	+	2	467	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	126					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.A126E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCAGGTATGCGCAGACACCA	0.458													40	77					0	0	0	0	T	21424307	C	T	21424307	3	4	464	1	0	0	0	0	1	0	0	0	13489	768	27	1	379	1	RNASE2	14	21424307	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		21424307	85925233	51	90074											
LTB4R2	56413	broad.mit.edu	37	chr14	24780618	24780618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccttctgcaggcggtcGcagcgctggctccaccggaa	7	7	12	15	4	2	0	1	0	1	0	4	1	3	1	3	4	3	4	3	4	2	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:24780618G>A	ENST00000528054.1	+	1	2458	c.841G>A	c.(841-843)Gca>Aca	p.A281T	LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	281					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCAGGCGGTCGCAGCGCTGGC	0.711													21	26					0	0	0	0	A	24780618	G	A	24780618	3	1	464	1	0	0	0	0	1	0	0	0	9136	1087	38	1	750	1	LTB4R2	14	24780618	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	3356311	24780618	82568922	52	90075											
NAA30	122830	broad.mit.edu	37	chr14	57857978	57857978	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccgggcggccgcctccctCaagagcaaggtcctgagcgt	6	6	13	16	4	1	2	1	1	0	1	4	2	4	2	5	3	2	1	5	3	2	0			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:57857978C>G	ENST00000556492.1	+	2	457	c.303C>G	c.(301-303)ctC>ctG	p.L101L	NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	101						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CCGCCTCCCTCAAGAGCAAGG	0.682													13	25					0	0	0	0	G	57857978	C	G	57857978	2	3	464	1	0	0	0	0	0	0	0	1	10192	813	29	2		2	NAA30	14	57857978	Silent	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	33077360	57857978	49491562	53	90076											
RPS6KA5	9252	broad.mit.edu	37	chr14	91369252	91369252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacatctaattcatctCgaatgactggcttaaatggt	12	14	6	9	1	4	1	2	1	2	0	5	2	4	1	0	2	1	1	0	2	5	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:91369252C>A	ENST00000261991.3	-	9	1192	c.1019G>T	c.(1018-1020)cGa>cTa	p.R340L	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R261L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R340L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	340	AGC-kinase C-terminal.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TAATTCATCTCGAATGACTGG	0.408													16	50					1.67942e-08	1.73301e-08	1	0	A	91369252	C	A	91369252	3	1	464	1	0	0	0	0	1	0	0	0	13739	884	31	3	1431	3	RPS6KA5	14	91369252	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	33511274	91369252	15980288	54	90077											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	12	5	15	9	4	0	1	0	1	0	0	1	4	0	4	2	4	4	0	2	4	3	0			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				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			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463													6	300					0	0	0	0	A	103174893	G	A	103174893	3	1	464	1	0	0	0	0	1	0	0	0	13264	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	11805641	103174893	4174647	55	90078											
AHNAK2	113146	broad.mit.edu	37	chr14	105411705	105411705	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggacctccaggtccacagaAgggagctgaatgctgaggtc	10	7	14	10	0	0	3	0	2	0	1	3	5	2	5	3	4	2	2	3	4	2	0			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:105411705A>G	ENST00000333244.5	-	7	10202	c.10083T>C	c.(10081-10083)ccT>ccC	p.P3361P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3361						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCCACAGAAGGGAGCTGAA	0.672													151	192					0	0	0	0	G	105411705	A	G	105411705	2	3	464	1	0	0	0	0	0	0	0	1	415	59	3	5		5	AHNAK2	14	105411705	Silent	SNP	A	TCGA-P3-A6T2-01A-11D-A34J-08	2236812	105411705	1937835	56	90079											
SMG1	23049	broad.mit.edu	37	chr16	18882803	18882803	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaagtcattaacagttTcctgaaacacaaaatataca	18	9	4	10	0	1	1	1	1	0	0	2	1	2	1	2	0	4	1	2	0	7	4			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr16:18882803T>A	ENST00000446231.2	-	16	2597	c.2183_splice	c.e16-1	p.K729_splice	SMG1_ENST00000389467.3_Splice_Site_p.K729_splice			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	729	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTAACAGTTTCCTGAAACAC	0.328													13	11					0	0	0	0	A	18882803	T	A	18882803	5	1	464	1	0	0	0	0	0	0	1	0	14883	1797	62	5	8992	5	SMG1	16	18882803	Splice_Site	SNP	T	TCGA-P3-A6T2-01A-11D-A34J-08		18882803	71471950	57	90080											
EEF2K	29904	broad.mit.edu	37	chr16	22268675	22268675	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacccacagatccacacggaGacgggcactgactttggaga	12	5	12	12	2	0	4	0	1	0	3	1	7	1	4	2	3	0	1	2	3	0	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr16:22268675G>A	ENST00000263026.5	+	8	1344	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	290	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCACACGGAGACGGGCACTG	0.547													19	45					0	0	0	0	A	22268675	G	A	22268675	2	1	464	1	0	0	0	0	0	0	0	1	4966	933	33	2		2	EEF2K	16	22268675	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	3385872	22268675	68086078	58	90081											
TP53	7157	broad.mit.edu	37	chr17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagattctcttcctctgtgCgccggtctctcccaggacag	5	11	11	14	2	3	1	0	0	3	1	7	3	5	2	3	3	1	0	3	3	0	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)		TTCCTCTGTGCGCCGGTCTCT	0.562		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)			26	28					0	0	0	0	G	7577090	C	G	7577090	3	3	464	1	0	0	0	0	1	0	0	0	16476	768	27	3	438	3	TP53	17	7577090	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		7577090	73618120	59	90082											
TP53	7157	broad.mit.edu	37	chr17	7577506	7577506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggctcctgacctggagtCttccagtgtgatgatggtga	7	12	14	8	0	1	4	0	4	1	0	3	5	3	5	3	3	0	1	3	3	0	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:7577506C>T	ENST00000420246.2	-	7	907	c.775G>A	c.(775-777)Gac>Aac	p.D259N	TP53_ENST00000359597.4_Missense_Mutation_p.D259N|TP53_ENST00000455263.2_Missense_Mutation_p.D259N|TP53_ENST00000269305.4_Missense_Mutation_p.D259N|TP53_ENST00000413465.2_Missense_Mutation_p.D259N|TP53_ENST00000445888.2_Missense_Mutation_p.D259N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)		GACCTGGAGTCTTCCAGTGTG	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	33					0	0	0	0	T	7577506	C	T	7577506	3	4	464	1	0	0	0	0	1	0	0	0	16476	913	32	2	515	2	TP53	17	7577506	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	416	7577506	73617704	60	90083											
MYH1	4619	broad.mit.edu	37	chr17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaagaac	9	9	12	11	1	0	3	0	2	0	1	2	3	2	3	3	2	4	3	3	2	2	1			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	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	445	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R445L(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						CTGGTTGATGCGGGTGACCAT	0.463													5	288					0	0	0	0	T	10415238	C	T	10415238	3	4	464	1	0	0	0	0	1	0	0	0	10099	768	27	1	4593	1	MYH1	17	10415238	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	2837732	10415238	70779972	61	90084											
SF3A2	8175	broad.mit.edu	37	chr19	2248458	2248458	+	Frame_Shift_Del	DEL	C	C	-																															ccctcaaatcctggggtgcaCcccccaactcccatgccccc																										TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:2248458delC	ENST00000221494.4	+	9	1726	c.1308delC	c.(1306-1308)cafs	p.H436fs		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	436	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CTGGGGTGCACCCCCCAACTC	0.682													2	4	---	---	---	---					-	2248458	C	-	2248458	7	5	464	1	0	1	0	1	0	0	0	0	14234	506	18	0	1338	0	SF3A2	19	2248458	Frame_Shift_Del	DEL	C	TCGA-P3-A6T2-01A-11D-A34J-08		2248458	56880525	62	90085											
CRLF1	9244	broad.mit.edu	37	chr19	18704897	18704898	+	Frame_Shift_Ins	INS	-	-	T																															tcgccgtgccccgtctgcccINSgagggcaggatcccctcgtc																										TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:18704897_18704898insT	ENST00000392386.3	-	8	1425_1426	c.1232_1233insA	c.(1231-1233)tggfs	p.W411fs	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	411					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCCGTCTGCCCGAGGGCAGGAT	0.668													2	4	---	---	---	---					T	18704898	-	T	18704897	7	5	464	1	0	1	1	0	0	0	0	0	3916	639	23	0	43	0	CRLF1	19	18704897	Frame_Shift_Ins	INS	-	TCGA-P3-A6T2-01A-11D-A34J-08	16456439	18704897	40424086	63	90086											
ZNF234	10780	broad.mit.edu	37	chr19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-																															tgtattccttttagaaaaggAaaaaaagcttgatataatga																										TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:44654608delA	ENST00000426739.2	+	5	443	c.185delA	c.(184-186)gafs	p.E62fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TTAGAAAAGGAAAAAAAGCTT	0.368													2	4	---	---	---	---					-	44654608	A	-	44654608	7	5	464	1	0	1	0	1	0	0	0	0	17882	246	9	0	195	0	ZNF234	19	44654608	Frame_Shift_Del	DEL	A	TCGA-P3-A6T2-01A-11D-A34J-08	25949711	44654608	14474375	64	90087											
CCDC8	83987	broad.mit.edu	37	chr19	46914994	46914994	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgcagcctcttccctctgGttatctgcagcctctgcccc	3	13	7	18	0	5	0	0	0	5	0	6	0	6	0	5	1	5	3	5	1	1	2			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587													4	115					0	0	0	0	A	46914994	G	A	46914994	2	1	464	1	0	0	0	0	0	0	0	1	2880	1252	44	4		4	CCDC8	19	46914994	Silent	SNP	G	TCGA-P3-A6T2-01A-11D-A34J-08	2260386	46914994	12213989	65	90088											
SIRPG	55423	broad.mit.edu	37	chr20	1629785	1629785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacacagtagtatgtgcCgacatctgctggggtgatgc	8	11	12	10	1	2	1	1	1	1	0	2	2	2	1	1	2	3	3	1	2	2	3			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr20:1629785C>T	ENST00000381580.1	-	2	423	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	SIRPG_ENST00000344103.4_Missense_Mutation_p.G115S|SIRPG_ENST00000381583.2_Missense_Mutation_p.G115S|SIRPG_ENST00000216927.4_Missense_Mutation_p.G115S|SIRPG_ENST00000303415.3_Missense_Mutation_p.G115S			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	115	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TAGTATGTGCCGACATCTGCT	0.493													43	92					0	0	0	0	T	1629785	C	T	1629785	3	4	464	1	0	0	0	0	1	0	0	0	14424	652	23	1	836	1	SIRPG	20	1629785	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		1629785	61395735	66	90089											
DYRK1A	1859	broad.mit.edu	37	chr21	38853118	38853118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccttgataggcaaaggttCctttggacaggtaatttaat	11	14	9	7	0	0	1	0	1	0	0	2	2	2	2	2	4	0	3	2	4	4	7			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr21:38853118C>T	ENST00000339659.3	+	4	1949	c.479C>T	c.(478-480)tCc>tTc	p.S160F	DYRK1A_ENST00000338785.3_Missense_Mutation_p.S169F|DYRK1A_ENST00000398956.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000398960.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S169F|DYRK1A_ENST00000451934.1_Missense_Mutation_p.S169F	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	169	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCAAAGGTTCCTTTGGACAG	0.338													12	18					0	0	0	0	T	38853118	C	T	38853118	3	4	464	1	0	0	0	0	1	0	0	0	4890	855	30	2	520	2	DYRK1A	21	38853118	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		38853118	9276777	67	90090											
MYH9	4627	broad.mit.edu	37	chr22	36690235	36690235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgcctccactttcttgCgcttgtgctccgagtcccct	2	13	9	17	3	1	0	0	0	1	0	4	1	4	0	5	0	3	3	5	0	0	3			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr22:36690235C>G	ENST00000216181.5	-	28	3970	c.3740G>C	c.(3739-3741)cGc>cCc	p.R1247P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1247					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACTTTCTTGCGCTTGTGCTC	0.622			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				46	91					0	0	0	0	G	36690235	C	G	36690235	3	3	464	1	0	0	0	0	1	0	0	0	10112	768	27	3	2198	3	MYH9	22	36690235	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08		36690235	14614331	68	90091											
ATRX	546	broad.mit.edu	37	chrX	76814257	76814257	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgaatataattactcgattAgcagctaccagattaattcc	14	13	5	9	2	0	1	0	0	0	1	3	3	1	1	2	0	4	2	2	0	7	7			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:76814257A>G	ENST00000373344.5	-	29	6601	c.6387T>C	c.(6385-6387)gcT>gcC	p.A2129A	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.A2091A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2129	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTACTCGATTAGCAGCTACCA	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						82	34					0	0	0	0	G	76814257	A	G	76814257	2	3	464	1	0	0	0	0	0	0	0	1	1212	407	15	5		5	ATRX	23	76814257	Silent	SNP	A	TCGA-P3-A6T2-01A-11D-A34J-08		76814257	78456303	69	90092											
GPR112	139378	broad.mit.edu	37	chrX	135405026	135405026	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccattcctgaactcagcCgattcacagcatgcattgat	12	11	6	12	1	2	2	2	2	0	0	3	3	3	2	3	0	5	2	3	0	2	4	rs148277760		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:135405026C>T	ENST00000394143.1	+	5	451	c.160C>T	c.(160-162)Cga>Tga	p.R54*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.R54*|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_5'UTR	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	54					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R54*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGAACTCAGCCGATTCACAGC	0.403													47	15					0	0	0	0	T	135405026	C	T	135405026	4	4	464	1	0	0	0	0	0	1	0	0	6678	644	23	1	166	1	GPR112	23	135405026	Nonsense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	58590769	135405026	19865534	70	90093											
AFF2	2334	broad.mit.edu	37	chrX	147985764	147985764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaggctgttgaaaaggCaaaacctaggaataatcctg	15	10	9	7	0	0	1	0	1	0	0	1	2	1	2	2	3	2	3	2	3	8	5			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:147985764C>A	ENST00000370460.2	+	9	1852	c.1373C>A	c.(1372-1374)gCa>gAa	p.A458E	AFF2_ENST00000342251.3_Missense_Mutation_p.A425E|AFF2_ENST00000370457.5_Missense_Mutation_p.A425E|AFF2_ENST00000286437.5_Missense_Mutation_p.A99E|AFF2_ENST00000370458.1_Missense_Mutation_p.A419E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	458					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGAAAAGGCAAAACCTAGG	0.294													66	27					4.83677e-39	5.51961e-39	1	0	A	147985764	C	A	147985764	3	1	464	1	0	0	0	0	1	0	0	0	357	710	25	4	1462	4	AFF2	23	147985764	Missense_Mutation	SNP	C	TCGA-P3-A6T2-01A-11D-A34J-08	12580738	147985764	7284796	71	90094											
MIB2	142678	broad.mit.edu	37	chr1	1565827	1565827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccagtgcggccacggcGcatgcgccccctgcggctcc	3	7	13	18	5	0	0	0	0	0	0	2	0	2	0	5	3	3	3	5	3	0	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:1565827G>A	ENST00000357210.4	+	20	3175	c.2959G>A	c.(2959-2961)Gca>Aca	p.A987T	MIB2_ENST00000520777.1_Missense_Mutation_p.A1040T|MIB2_ENST00000504599.1_Missense_Mutation_p.A943T|MIB2_ENST00000378708.1_Missense_Mutation_p.A893T|MIB2_ENST00000378710.3_Missense_Mutation_p.A951T|MIB2_ENST00000378712.1_3'UTR|MIB2_ENST00000505820.2_Missense_Mutation_p.A1044T|MIB2_ENST00000360522.4_Missense_Mutation_p.A952T|MIB2_ENST00000518681.1_Missense_Mutation_p.A979T|MIB2_ENST00000355826.5_Missense_Mutation_p.A1030T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	987					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGCCACGGCGCATGCGCCCC	0.706													3	15					0	0	0	0	A	1565827	G	A	1565827	3	1	465	1	0	0	0	0	1	0	0	0	9636	1087	38	1	3208	1	MIB2	1	1565827	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		1565827	247684794	1	90095											
TNFRSF9	3604	broad.mit.edu	37	chr1	7993298	7993298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgtgaggaagaacagcagGaagagcaacgcagtcgacgt	15	3	15	8	4	0	3	0	1	0	2	1	6	0	5	0	2	5	3	0	2	4	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:7993298G>T	ENST00000377507.3	-	7	769	c.603C>A	c.(601-603)ttC>ttA	p.F201L		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	201					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			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)		AGAACAGCAGGAAGAGCAACG	0.438													4	61					0.00909568	0.00915361	1	0	T	7993298	G	T	7993298	3	4	465	1	0	0	0	0	1	0	0	0	16394	1165	41	2	172	2	TNFRSF9	1	7993298	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	6427471	7993298	241257323	2	90096											
MTHFR	4524	broad.mit.edu	37	chr1	11856353	11856353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgtgtcagcctcaaaGaaaagctgcgtgatgatgaa	16	8	11	6	1	2	5	2	3	0	2	2	5	2	5	1	0	3	1	1	0	6	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:11856353G>T	ENST00000376592.1	-	4	818	c.690C>A	c.(688-690)ttC>ttA	p.F230L	MTHFR_ENST00000376583.3_Missense_Mutation_p.F271L|MTHFR_ENST00000376585.1_Missense_Mutation_p.F271L|MTHFR_ENST00000376590.3_Missense_Mutation_p.F230L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	230					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CAGCCTCAAAGAAAAGCTGCG	0.572													114	261					2.55378e-55	2.90286e-55	1	0	T	11856353	G	T	11856353	3	4	465	1	0	0	0	0	1	0	0	0	10001	933	33	2	1312	2	MTHFR	1	11856353	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	3863055	11856353	237394268	3	90097											
FAAH	2166	broad.mit.edu	37	chr1	46870755	46870755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtgagactcagctgtctCaggccccaaggcagggcctg	8	7	13	13	0	2	1	2	1	1	1	3	2	2	1	3	3	1	2	3	3	1	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:46870755C>G	ENST00000243167.8	+	3	463	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	127					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TCAGCTGTCTCAGGCCCCAAG	0.562													20	76					0	0	0	0	G	46870755	C	G	46870755	3	3	465	1	0	0	0	0	1	0	0	0	5394	827	29	2	389	2	FAAH	1	46870755	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	35014402	46870755	202379866	4	90098											
EPS15	2060	broad.mit.edu	37	chr1	51910602	51910602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgatggtggaatcatttcagGagtaagaacgtgaggaggat	13	10	15	3	1	2	3	2	2	0	1	2	7	2	7	0	5	1	1	0	5	3	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:51910602G>C	ENST00000371733.3	-	11	1009	c.913C>G	c.(913-915)Cct>Gct	p.P305A	EPS15_ENST00000371730.2_Missense_Mutation_p.P305A	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	305	EH 3.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATCATTTCAGGAGTAAGAACG	0.393			T	MLL	ALL								72	132					0	0	0	0	C	51910602	G	C	51910602	3	2	465	1	0	0	0	0	1	0	0	0	5230	1174	41	2	1935	2	EPS15	1	51910602	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	5039847	51910602	197340019	5	90099											
ANGPTL3	27329	broad.mit.edu	37	chr1	63064454	63064454	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattaaaccaacagcatagtCaaataaaagaaatagaaaat	25	7	4	5	0	1	2	1	0	0	2	1	2	1	2	1	0	3	1	1	0	12	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:63064454C>T	ENST00000371129.3	+	2	663	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	195					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ACAGCATAGTCAAATAAAAGA	0.318													12	57					0	0	0	0	T	63064454	C	T	63064454	4	4	465	1	0	0	0	0	0	1	0	0	615	827	29	2	589	2	ANGPTL3	1	63064454	Nonsense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	11153852	63064454	186186167	6	90100											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149857997	149857997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgaagatgtcgttgacgaagGagttcatgatgcccatggcc	10	9	13	9	3	1	3	1	2	0	1	2	6	1	4	2	2	1	2	2	2	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:149857997G>C	ENST00000369155.2	-	1	235	c.194C>G	c.(193-195)tCc>tGc	p.S65C		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTTGACGAAGGAGTTCATGAT	0.607													48	187					0	0	0	0	C	149857997	G	C	149857997	3	2	465	1	0	0	0	0	1	0	0	0	7229	1174	41	2	190	2	HIST2H2BE	1	149857997	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	86793543	149857997	99392624	7	90101											
ARHGEF2	9181	broad.mit.edu	37	chr1	155922435	155922435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctcacggatggcatcCtgcagcagccgctcgccacg	7	6	10	18	4	2	0	2	0	0	0	4	1	3	1	4	2	3	4	4	2	0	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:155922435C>G	ENST00000368316.1	-	19	2354	c.1884G>C	c.(1882-1884)caG>caC	p.Q628H	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.Q656H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.Q628H|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.Q657H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.Q655H			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	656					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGATGGCATCCTGCAGCAGCC	0.617													7	38					0	0	0	0	G	155922435	C	G	155922435	3	3	465	1	0	0	0	0	1	0	0	0	905	680	24	4	1024	4	ARHGEF2	1	155922435	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	6064438	155922435	93328186	8	90102											
ETV3L	440695	broad.mit.edu	37	chr1	157068947	157068947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcacctgagggcccggctCagcttgtcataattcatctg	7	12	9	13	1	5	1	4	1	2	0	6	1	5	1	2	2	1	2	2	2	1	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:157068947C>T	ENST00000454449.2	-	2	566	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	94						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGCCCGGCTCAGCTTGTCAT	0.582													20	75					0	0	0	0	T	157068947	C	T	157068947	2	4	465	1	0	0	0	0	0	0	0	1	5318	813	29	2		2	ETV3L	1	157068947	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	1146512	157068947	92181674	9	90103											
MNDA	4332	broad.mit.edu	37	chr1	158815706	158815706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtcccaaacagaattatCgaaatagcaaataaaactcc	19	7	6	9	1	0	1	0	0	0	1	3	3	2	1	2	1	3	1	2	1	8	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:158815706C>T	ENST00000368141.4	+	5	1161	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	300	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ACAGAATTATCGAAATAGCAA	0.343													49	62					0	0	0	0	T	158815706	C	T	158815706	2	4	465	1	0	0	0	0	0	0	0	1	9746	874	31	1		1	MNDA	1	158815706	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	1746759	158815706	90434915	10	90104											
ADAMTS4	9507	broad.mit.edu	37	chr1	161167833	161167833	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccaagaggagccttgacGttgcacatgggaccttgacc	9	9	11	12	1	0	3	0	2	0	1	1	5	1	5	4	2	2	2	4	2	1	4	rs114749477	by1000genomes	TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:161167833G>A	ENST00000367996.4	-	1	1013	c.585C>T	c.(583-585)aaC>aaT	p.N195N	ADAMTS4_ENST00000367995.3_Silent_p.N195N	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	195					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGCCTTGACGTTGCACATGG	0.642													12	61					0	0	0	0	A	161167833	G	A	161167833	2	1	465	1	0	0	0	0	0	0	0	1	268	1136	40	1		1	ADAMTS4	1	161167833	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	2352127	161167833	88082788	11	90105											
KIF21B	23046	broad.mit.edu	37	chr1	200956005	200956005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcggtcgtaggacttccttCtcgtcagcggggacgtctct	4	12	12	13	5	3	0	1	0	2	0	8	2	4	2	1	4	1	1	1	4	1	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:200956005C>G	ENST00000332129.2	-	26	3972	c.3656G>C	c.(3655-3657)aGa>aCa	p.R1219T	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1219T|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1219T|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1219T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1219					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGACTTCCTTCTCGTCAGCGG	0.547													24	71					0	0	0	0	G	200956005	C	G	200956005	3	3	465	1	0	0	0	0	1	0	0	0	8340	913	32	2	1254	2	KIF21B	1	200956005	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	39788172	200956005	48294616	12	90106											
NUCKS1	64710	broad.mit.edu	37	chr1	205687512	205687512	+	Nonsense_Mutation	SNP	C	C	A																															tggcgggctttccggttcctCatcttcttctttgggagaag																										TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:205687512C>A	ENST00000367142.4	-	7	930	c.628G>T	c.(628-630)Gag>Tag	p.E210*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	210						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCGGTTCCTCATCTTCTTCT	0.522													31	246					1.45844e-13	1.63427e-13	1	0	A	205687512	C	A	205687512	4	1	465	1	0	0	0	0	0	1	0	0	10791	835	29	2	107	2	NUCKS1	1	205687512	Nonsense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	4731507	205687512	43563109	13	90107	1109	2									
NUCKS1	64710	broad.mit.edu	37	chr1	205687518	205687518	+	Missense_Mutation	SNP	C	C	T																															gctttccggttcctcatcttCttctttgggagaaggagtct																										TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:205687518C>T	ENST00000367142.4	-	7	924	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	208						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCTCATCTTCTTCTTTGGGA	0.507													33	244					0	0	0	0	T	205687518	C	T	205687518	3	4	465	1	0	0	0	0	1	0	0	0	10791	922	32	2	113	2	NUCKS1	1	205687518	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	6	205687518	43563103	14	90108	1109	2									
PARP1	142	broad.mit.edu	37	chr1	226574040	226574040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcaccgccgactccccaGaaggcacttgctgcttgttg	7	9	10	15	2	1	1	1	0	0	1	2	2	2	1	4	1	3	5	4	1	1	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:226574040G>A	ENST00000366794.5	-	6	964	c.821C>T	c.(820-822)tCt>tTt	p.S274F		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	274					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CGACTCCCCAGAAGGCACTTG	0.537								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					16	54					0	0	0	0	A	226574040	G	A	226574040	3	1	465	1	0	0	0	0	1	0	0	0	11525	942	33	2	2295	2	PARP1	1	226574040	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	20886522	226574040	22676581	15	90109											
ITPKB	3707	broad.mit.edu	37	chr1	226836413	226836413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccaggggtacttcttcttGaaggacatgacgaagggaga	12	9	13	7	1	2	3	0	2	2	1	3	6	3	4	1	4	1	1	1	4	3	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:226836413G>C	ENST00000429204.1	-	3	2319	c.1992C>G	c.(1990-1992)ttC>ttG	p.F664L	ITPKB_ENST00000272117.3_Missense_Mutation_p.F664L	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	664							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ACTTCTTCTTGAAGGACATGA	0.493													32	110					0	0	0	0	C	226836413	G	C	226836413	3	2	465	1	0	0	0	0	1	0	0	0	7971	1281	45	2	872	2	ITPKB	1	226836413	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	262373	226836413	22414208	16	90110											
SLC35F3	148641	broad.mit.edu	37	chr1	234454536	234454536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcagtgctaagtttggaGaagccgccttatttttgtcc	7	14	12	8	1	0	1	0	0	0	1	1	2	1	1	3	2	2	3	3	2	3	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:234454536G>C	ENST00000366618.3	+	6	1139	c.994G>C	c.(994-996)Gaa>Caa	p.E332Q	SLC35F3_ENST00000366617.3_Missense_Mutation_p.E263Q	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	263					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TAAGTTTGGAGAAGCCGCCTT	0.468													39	170					0	0	0	0	C	234454536	G	C	234454536	3	2	465	1	0	0	0	0	1	0	0	0	14678	943	33	2	1016	2	SLC35F3	1	234454536	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	7618123	234454536	14796085	17	90111											
TARBP1	6894	broad.mit.edu	37	chr1	234529144	234529144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgttctgcagagacactGaggtgctgaaactgtttgtc	9	12	11	9	0	1	3	0	2	1	1	2	4	1	3	0	1	3	4	0	1	1	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:234529144G>A	ENST00000040877.1	-	28	4523	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1508					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CAGAGACACTGAGGTGCTGAA	0.483													5	41					0	0	0	0	A	234529144	G	A	234529144	2	1	465	1	0	0	0	0	0	0	0	1	15646	1277	45	2		2	TARBP1	1	234529144	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	74608	234529144	14721477	18	90112											
LYST	1130	broad.mit.edu	37	chr1	235993528	235993528	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatataaaaatgttacctGatcaattatagaatttagct	16	16	5	4	0	1	3	1	2	0	1	1	3	1	3	1	0	2	2	1	0	10	8			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:235993528G>A	ENST00000389794.3	-	3	364	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	LYST_ENST00000536965.1_Nonsense_Mutation_p.Q64*|LYST_ENST00000389793.2_Nonsense_Mutation_p.Q64*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	64					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATGTTACCTGATCAATTATA	0.373													16	46					0	0	0	0	A	235993528	G	A	235993528	4	1	465	1	0	0	0	0	0	1	0	0	9193	1299	45	2	11419	2	LYST	1	235993528	Nonsense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	1464384	235993528	13257093	19	90113											
RYR2	6262	broad.mit.edu	37	chr1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctatgcagtgaaggccGgacggtggtattttgaattt	10	12	13	6	2	0	3	0	2	0	1	0	4	0	4	2	4	1	2	2	4	4	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552													4	169					0	0	0	0	A	237729947	G	A	237729947	3	1	465	1	0	0	0	0	1	0	0	0	13854	1117	39	1	3405	1	RYR2	1	237729947	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	1736419	237729947	11520674	20	90114											
FOXD4L1	200350	broad.mit.edu	37	chr2	114256927	114256927	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaaatcgatgtcctgggaGaggaggaagatgaagacgag	15	6	16	4	2	0	4	0	1	0	3	2	9	1	6	1	3	0	1	1	3	4	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:114256927G>C	ENST00000306507.5	+	1	267	c.94G>C	c.(94-96)Gag>Cag	p.E32Q		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	32					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TGTCCTGGGAgaggaggaaga	0.647													32	101					0	0	0	0	C	114256927	G	C	114256927	3	2	465	1	0	0	0	0	1	0	0	0	6045	943	33	2	96	2	FOXD4L1	2	114256927	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		114256927	128942446	21	90115											
TTN	7273	broad.mit.edu	37	chr2	179425532	179425532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaagtactttgcaattaaCggccacagaccgagtgccgg	12	8	10	11	3	1	1	1	0	0	1	1	2	1	1	3	2	4	2	3	2	4	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:179425532C>T	ENST00000589042.1	-	326	85551	c.85327G>A	c.(85327-85329)Gtt>Att	p.V28443I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V25875I|TTN_ENST00000460472.2_Missense_Mutation_p.V19378I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V19503I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V19570I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V26802I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26802	Fibronectin type-III 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCAATTAACGGCCACAGAC	0.458													20	37					0	0	0	0	T	179425532	C	T	179425532	3	4	465	1	0	0	0	0	1	0	0	0	16831	536	19	1	22800	1	TTN	2	179425532	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	65168605	179425532	63773841	22	90116											
ZNF804A	91752	broad.mit.edu	37	chr2	185800982	185800982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccagaggcaatgtgcagaGacaaagaaactgttcaaact	17	6	9	9	0	1	3	1	0	0	3	1	4	1	3	1	1	3	3	1	1	4	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:185800982G>A	ENST00000302277.6	+	4	1453	c.859G>A	c.(859-861)Gac>Aac	p.D287N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	287						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATGTGCAGAGACAAAGAAAC	0.373													22	77					0	0	0	0	A	185800982	G	A	185800982	3	1	465	1	0	0	0	0	1	0	0	0	18263	942	33	2	873	2	ZNF804A	2	185800982	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	6375450	185800982	57398391	23	90117											
GTF3C3	9330	broad.mit.edu	37	chr2	197636551	197636551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatgattttctgggtttttCagcatcaaacggagacagaa	12	12	10	7	1	3	3	2	1	1	2	3	4	3	3	0	2	2	3	0	2	2	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:197636551C>T	ENST00000263956.3	-	15	2270	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	727						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGGGTTTTTCAGCATCAAAC	0.428													15	67					0	0	0	0	T	197636551	C	T	197636551	2	4	465	1	0	0	0	0	0	0	0	1	6924	813	29	2		2	GTF3C3	2	197636551	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	11835569	197636551	45562822	24	90118											
SP140L	93349	broad.mit.edu	37	chr2	231264947	231264947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actgccacatcccacctgtgGaaagtgagaagtaagtgaca	14	7	10	10	0	0	2	0	2	0	1	1	4	1	3	3	1	1	1	3	1	3	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:231264947G>C	ENST00000243810.6	+	15	1303	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	SP140L_ENST00000415673.2_Missense_Mutation_p.E435Q|SP140L_ENST00000396563.4_Missense_Mutation_p.E400Q|SP140L_ENST00000444636.1_Missense_Mutation_p.E435Q			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	435						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCCACCTGTGGAAAGTGAGAA	0.522													6	51					0	0	0	0	C	231264947	G	C	231264947	3	2	465	1	0	0	0	0	1	0	0	0	15051	1175	41	2	1361	2	SP140L	2	231264947	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	33628396	231264947	11934426	25	90119											
ARL4C	10123	broad.mit.edu	37	chr2	235404810	235404810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcagcgccagctgcttctCaatctctgccaccggcagcg	6	8	11	16	3	2	0	1	0	2	0	4	0	2	0	3	1	6	4	3	1	1	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:235404810C>T	ENST00000390645.2	-	1	887	c.421G>A	c.(421-423)Gag>Aag	p.E141K	ARL4C_ENST00000339728.3_Missense_Mutation_p.E141K	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	141					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		AGCTGCTTCTCAATCTCTGCC	0.647													11	45					0	0	0	0	T	235404810	C	T	235404810	3	4	465	1	0	0	0	0	1	0	0	0	941	835	29	2	161	2	ARL4C	2	235404810	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	4139863	235404810	7794563	26	90120											
THAP4	51078	broad.mit.edu	37	chr2	242572369	242572369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctacttggataggggacGctcactctcctcagctcatc	8	10	10	13	1	4	0	3	0	1	0	6	2	4	2	1	4	2	3	1	4	2	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:242572369G>A	ENST00000407315.1	-	2	1634	c.1203C>T	c.(1201-1203)agC>agT	p.S401S		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	401							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GATAGGGGACGCTCACTCTCC	0.622													7	23					0	0	0	0	A	242572369	G	A	242572369	2	1	465	1	0	0	0	0	0	0	0	1	15940	1078	38	1		1	THAP4	2	242572369	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	7167559	242572369	627004	27	90121											
CNTN4	152330	broad.mit.edu	37	chr3	3085380	3085380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataatgagtcggaagtaaaaGgatacaaagtaggtaatttc	18	10	10	3	1	0	1	0	1	0	0	2	3	0	3	0	3	1	3	0	3	8	6			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:3085380G>A	ENST00000397461.1	+	22	3187	c.2803G>A	c.(2803-2805)Gga>Aga	p.G935R	CNTN4_ENST00000358480.3_Missense_Mutation_p.G716R|CNTN4_ENST00000427331.1_Missense_Mutation_p.G935R|CNTN4_ENST00000418658.1_Missense_Mutation_p.G935R|CNTN4_ENST00000448906.2_Missense_Mutation_p.G607R|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.G607R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	935	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAAGTAAAAGGATACAAAGT	0.423													8	53					0	0	0	0	A	3085380	G	A	3085380	3	1	465	1	0	0	0	0	1	0	0	0	3673	1001	35	4	2881	4	CNTN4	3	3085380	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		3085380	194937050	28	90122											
TLR9	54106	broad.mit.edu	37	chr3	52255539	52255539	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcacaaacagcgtcttGcggctgccatagaccgaggc	10	5	12	14	3	1	1	0	0	1	1	1	2	1	1	3	2	5	2	3	2	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:52255539G>A	ENST00000494383.1	-	5	3252	c.3253C>T	c.(3253-3255)Caa>Taa	p.Q1085*	TLR9_ENST00000360658.2_Silent_p.R931R|TLR9_ENST00000597542.1_Silent_p.R955R			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACAGCGTCTTGCGGCTGCCAT	0.672													53	51					0	0	0	0	A	52255539	G	A	52255539	4	1	465	1	0	0	0	0	0	1	0	0	16052	1306	46	4	309	4	TLR9	3	52255539	Nonsense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	49170159	52255539	145766891	29	90123											
WNT5A	7474	broad.mit.edu	37	chr3	55508406	55508406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcaggttcatgaggatgcGagcactctcgtaggagccct	8	9	14	10	2	2	1	1	1	1	0	3	4	2	3	1	3	4	4	1	3	1	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:55508406G>A	ENST00000474267.1	-	5	1164	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	WNT5A_ENST00000497027.1_Missense_Mutation_p.R200C|WNT5A_ENST00000264634.4_Missense_Mutation_p.R215C			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	215					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ATGAGGATGCGAGCACTCTCG	0.657													17	13					0	0	0	0	A	55508406	G	A	55508406	3	1	465	1	0	0	0	0	1	0	0	0	17487	1058	37	1	507	1	WNT5A	3	55508406	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	3252867	55508406	142514024	30	90124											
GRAMD1C	54762	broad.mit.edu	37	chr3	113623085	113623085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaattagtcgggtttcagAaacagagtcattcgatggaa	14	11	10	6	2	3	2	3	0	0	2	5	4	3	3	0	2	1	1	0	2	4	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:113623085A>G	ENST00000358160.4	+	8	1247	c.755A>G	c.(754-756)gAa>gGa	p.E252G	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E47G|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E85G|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	252						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CGGGTTTCAGAAACAGAGTCA	0.363													22	69					0	0	0	0	G	113623085	A	G	113623085	3	3	465	1	0	0	0	0	1	0	0	0	6799	246	9	5	785	5	GRAMD1C	3	113623085	Missense_Mutation	SNP	A	TCGA-P3-A6T3-01A-11D-A34J-08	58114679	113623085	84399345	31	90125											
IFT122	55764	broad.mit.edu	37	chr3	129233286	129233286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctcggtgcctacaggctGgcccggcacgcctatgacaa	7	6	12	16	3	0	1	0	1	0	0	1	1	0	1	4	4	2	2	4	4	3	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:129233286G>A	ENST00000296266.3	+	26	3387	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L	IFT122_ENST00000504021.1_Silent_p.L891L|IFT122_ENST00000440957.2_Silent_p.L805L|IFT122_ENST00000431818.2_Silent_p.L864L|IFT122_ENST00000349441.2_Silent_p.L904L|IFT122_ENST00000348417.2_Silent_p.L1014L|IFT122_ENST00000347300.2_Silent_p.L955L|IFT122_ENST00000507564.1_Silent_p.L1007L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1014					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCTACAGGCTGGCCCGGCACG	0.602													14	60					0	0	0	0	A	129233286	G	A	129233286	2	1	465	1	0	0	0	0	0	0	0	1	7608	1335	47	4		4	IFT122	3	129233286	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	15610201	129233286	68789144	32	90126											
CEP63	80254	broad.mit.edu	37	chr3	134264494	134264494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagccaatcagaaattcaaCacttaagcagtaaactggag	17	8	7	9	0	2	1	2	0	0	1	2	2	2	2	1	1	4	2	1	1	7	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:134264494C>T	ENST00000337090.3	+	7	795	c.622C>T	c.(622-624)Cac>Tac	p.H208Y	CEP63_ENST00000332047.5_Missense_Mutation_p.H208Y|CEP63_ENST00000606977.1_Missense_Mutation_p.H208Y|CEP63_ENST00000513612.2_Missense_Mutation_p.H208Y|CEP63_ENST00000383229.3_Missense_Mutation_p.H208Y|CEP63_ENST00000354446.3_Missense_Mutation_p.H208Y			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	208					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGAAATTCAACACTTAAGCAG	0.428													23	113					0	0	0	0	T	134264494	C	T	134264494	3	4	465	1	0	0	0	0	1	0	0	0	3286	478	17	4	644	4	CEP63	3	134264494	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	5031208	134264494	63757936	33	90127											
DHX15	1665	broad.mit.edu	37	chr4	24578255	24578255	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatcacgttctcggtctcGatctttagaccgatcttcac	7	15	6	13	4	7	1	2	0	5	1	9	3	7	1	1	1	0	1	1	1	2	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:24578255G>A	ENST00000336812.4	-	2	274	c.118C>T	c.(118-120)Cga>Tga	p.R40*		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	40					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCTCGGTCTCGATCTTTAGAC	0.433													26	40					0	0	0	0	A	24578255	G	A	24578255	4	1	465	1	0	0	0	0	0	1	0	0	4538	1066	37	1	2321	1	DHX15	4	24578255	Nonsense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		24578255	166576021	34	90128											
SLC30A9	10463	broad.mit.edu	37	chr4	42022469	42022469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagggagtatggctcaaAgtacactcagaataatttca	17	9	9	6	0	3	1	3	0	0	1	3	3	3	2	0	2	1	3	0	2	7	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:42022469A>G	ENST00000264451.6	+	4	551	c.371A>G	c.(370-372)aAg>aGg	p.K124R		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	124					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATGGCTCAAAGTACACTCAG	0.333													25	136					0	0	0	0	G	42022469	A	G	42022469	3	3	465	1	0	0	0	0	1	0	0	0	14650	72	3	5	385	5	SLC30A9	4	42022469	Missense_Mutation	SNP	A	TCGA-P3-A6T3-01A-11D-A34J-08	17444214	42022469	149131807	35	90129											
PALLD	23022	broad.mit.edu	37	chr4	169846389	169846389	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttctatttgtagtttctCgacattaatagtgaaccaca	11	17	5	8	1	3	1	0	1	3	0	4	2	3	1	1	0	1	2	1	0	5	7	rs145720372		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:169846389C>T	ENST00000261509.6	+	20	3524	c.3313C>T	c.(3313-3315)Cga>Tga	p.R1105*	PALLD_ENST00000335742.7_Intron|PALLD_ENST00000512127.1_Intron|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Nonsense_Mutation_p.R1122*|PALLD_ENST00000507735.1_Intron	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1329					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGTAGTTTCTCGACATTAATA	0.313									Pancreatic Cancer, Familial Clustering of				48	200					0	0	0	0	T	169846389	C	T	169846389	4	4	465	1	0	0	0	0	0	1	0	0	11478	876	31	1	3949	1	PALLD	4	169846389	Nonsense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	127823920	169846389	21307887	36	90130											
ACSL1	2180	broad.mit.edu	37	chr4	185701488	185701488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacctactggttcatacctCaggtctattttgagcaaaga	11	13	8	9	0	3	2	2	1	1	1	3	2	3	2	2	2	4	3	2	2	5	7			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:185701488C>G	ENST00000515030.1	-	5	800	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504900.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000504342.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000281455.2_Missense_Mutation_p.E159Q|ACSL1_ENST00000507295.1_Intron|ACSL1_ENST00000513317.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000454703.2_5'UTR			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	159					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTTCATACCTCAGGTCTATTT	0.433													5	187					0	0	0	0	G	185701488	C	G	185701488	3	3	465	1	0	0	0	0	1	0	0	0	177	835	29	2	1689	2	ACSL1	4	185701488	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	15855099	185701488	5452788	37	90131											
MTNR1A	4543	broad.mit.edu	37	chr4	187455656	187455656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatcagcaccaacgggtaCggataaatggccaccaccag	14	4	10	13	2	1	0	1	0	0	0	1	2	1	1	4	3	3	2	4	3	4	2	rs149418383	byFrequency	TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:187455656C>T	ENST00000307161.5	-	2	441	c.240G>A	c.(238-240)ccG>ccA	p.P80P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	80					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CCAACGGGTACGGATAAATGG	0.502													10	54					0	0	0	0	T	187455656	C	T	187455656	2	4	465	1	0	0	0	0	0	0	0	1	10021	523	19	1		1	MTNR1A	4	187455656	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	1754168	187455656	3698620	38	90132											
CDH9	1007	broad.mit.edu	37	chr5	26903856	26903856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctgcattttcccccaCgtcagggtcattggctttta	6	16	7	12	1	3	0	2	0	1	0	4	0	4	0	2	2	1	2	2	2	1	6			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr5:26903856C>G	ENST00000231021.4	-	6	1061	c.889G>C	c.(889-891)Gtg>Ctg	p.V297L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	297	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTCCCCCACGTCAGGGTCA	0.413													39	229					0	0	0	0	G	26903856	C	G	26903856	3	3	465	1	0	0	0	0	1	0	0	0	3146	536	19	3	1508	3	CDH9	5	26903856	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08		26903856	154011404	39	90133											
C6	729	broad.mit.edu	37	chr5	41159280	41159280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggattattgcattctCgggttctcgatctcttataa	8	15	10	8	2	3	0	0	0	3	0	6	2	3	1	0	3	1	3	0	3	3	6			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr5:41159280C>A	ENST00000263413.3	-	12	2024	c.1760G>T	c.(1759-1761)cGa>cTa	p.R587L	C6_ENST00000337836.5_Missense_Mutation_p.R587L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTGCATTCTCGGGTTCTCGA	0.493													16	144					4.96729e-08	5.30292e-08	1	0	A	41159280	C	A	41159280	3	1	465	1	0	0	0	0	1	0	0	0	2336	884	31	3	1072	3	C6	5	41159280	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	14255424	41159280	139755980	40	90134											
FAT2	2196	broad.mit.edu	37	chr5	150948293	150948293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccggtacctcactgccCactgtggctccgcgaggtag	6	9	12	14	3	1	1	1	1	0	0	3	2	3	1	4	3	2	3	4	3	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr5:150948293C>G	ENST00000261800.5	-	1	212	c.200G>C	c.(199-201)tGg>tCg	p.W67S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	67	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCACTGCCCACTGTGGCTC	0.478													9	242					0	0	0	0	G	150948293	C	G	150948293	3	3	465	1	0	0	0	0	1	0	0	0	5735	595	21	4	12941	4	FAT2	5	150948293	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	109789013	150948293	29966967	41	90135											
GMDS	2762	broad.mit.edu	37	chr6	1726714	1726714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgccggtctctttacatCtgcccacttcattttcattc	5	18	4	14	1	4	0	2	0	2	0	6	0	4	0	2	1	3	0	2	1	1	7			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:1726714C>T	ENST00000380815.4	-	9	1192	c.923G>A	c.(922-924)aGa>aAa	p.R308K	GMDS_ENST00000530927.1_Missense_Mutation_p.R278K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	308					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTCTTTACATCTGCCCACTTC	0.488													12	122					0	0	0	0	T	1726714	C	T	1726714	3	4	465	1	0	0	0	0	1	0	0	0	6537	913	32	2	207	2	GMDS	6	1726714	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08		1726714	169388353	42	90136											
RIPK1	8737	broad.mit.edu	37	chr6	3085632	3085632	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatccggaagctcggccGacatttcctggtaagagcat	10	8	12	11	4	0	1	0	0	0	1	3	4	2	2	3	3	2	3	3	3	3	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:3085632G>T	ENST00000259808.4	+	6	1126	c.828G>T	c.(826-828)ccG>ccT	p.P276P	RIPK1_ENST00000380409.2_Silent_p.P276P|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Silent_p.P230P			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	276	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AAGCTCGGCCGACATTTCCTG	0.468													27	52					3.73988e-18	4.22073e-18	1	0	T	3085632	G	T	3085632	2	4	465	1	0	0	0	0	0	0	0	1	13465	1045	37	3		3	RIPK1	6	3085632	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	1358918	3085632	168029435	43	90137											
MOG	4340	broad.mit.edu	37	chr6	29627131	29627131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaccaagacaccctatcCgggctctggtcggggatgaa	10	7	13	11	2	1	2	0	1	1	1	3	4	2	4	3	5	0	1	3	5	4	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:29627131C>T	ENST00000376894.4	+	2	242	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	MOG_ENST00000376891.4_Missense_Mutation_p.R42W|MOG_ENST00000396704.3_Missense_Mutation_p.R42W|MOG_ENST00000483013.1_Intron|MOG_ENST00000494692.1_Missense_Mutation_p.R42W|MOG_ENST00000376917.3_Missense_Mutation_p.R42W|MOG_ENST00000376888.2_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.R42W|MOG_ENST00000376898.3_Missense_Mutation_p.R42W|MOG_ENST00000376902.3_Missense_Mutation_p.R42W|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Missense_Mutation_p.R42W|MOG_ENST00000396701.2_Missense_Mutation_p.R42W|MOG_ENST00000416766.2_Missense_Mutation_p.R42W|MOG_ENST00000469603.1_3'UTR			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	42	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ACACCCTATCCGGGCTCTGGT	0.547													44	252					0	0	0	0	T	29627131	C	T	29627131	3	4	465	1	0	0	0	0	1	0	0	0	9763	643	23	1	130	1	MOG	6	29627131	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	26541499	29627131	141487936	44	90138											
SLC29A1	2030	broad.mit.edu	37	chr6	44197355	44197355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccgcctggacatgtcccaGaatgtgtccttggtcactgc	8	10	10	13	1	1	1	1	0	0	1	3	2	3	2	4	2	2	0	4	2	2	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:44197355G>C	ENST00000393841.1	+	5	632	c.141G>C	c.(139-141)caG>caC	p.Q47H	SLC29A1_ENST00000371708.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000427851.2_Missense_Mutation_p.Q47H|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371713.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000313248.7_Missense_Mutation_p.Q126H|SLC29A1_ENST00000393844.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371755.3_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371724.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371740.5_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371731.1_Missense_Mutation_p.Q47H	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	47					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	ACATGTCCCAGAATGTGTCCT	0.562													12	61					0	0	0	0	C	44197355	G	C	44197355	3	2	465	1	0	0	0	0	1	0	0	0	14622	933	33	2	151	2	SLC29A1	6	44197355	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	14570224	44197355	126917712	45	90139											
GPR116	221395	broad.mit.edu	37	chr6	46826630	46826630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tattcccaggagagaactagGatctggggagtcaggggaca	12	7	15	7	0	2	1	1	0	1	1	3	6	3	5	1	6	1	0	1	6	3	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:46826630G>A	ENST00000283296.7	-	17	3298	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	GPR116_ENST00000456426.2_Missense_Mutation_p.P862S|GPR116_ENST00000362015.4_Missense_Mutation_p.P1004S|GPR116_ENST00000265417.7_Missense_Mutation_p.P1004S|GPR116_ENST00000545669.1_Missense_Mutation_p.P433S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1004					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGAACTAGGATCTGGGGAG	0.488													9	101					0	0	0	0	A	46826630	G	A	46826630	3	1	465	1	0	0	0	0	1	0	0	0	6682	1174	41	2	1050	2	GPR116	6	46826630	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	2629275	46826630	124288437	46	90140											
B3GAT2	135152	broad.mit.edu	37	chr6	71603971	71603971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagaccttgcgggtggttCgcatctataaaaagggaaaa	13	8	13	7	3	1	1	0	0	1	1	2	3	1	2	1	4	1	2	1	4	6	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:71603971C>T	ENST00000230053.6	-	2	1204	c.596G>A	c.(595-597)cGa>cAa	p.R199Q		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	199					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGGGTGGTTCGCATCTATAA	0.507													6	50					0	0	0	0	T	71603971	C	T	71603971	3	4	465	1	0	0	0	0	1	0	0	0	1258	884	31	1	387	1	B3GAT2	6	71603971	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	24777341	71603971	99511096	47	90141											
EEF1A1	1915	broad.mit.edu	37	chr6	74227810	74227810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcttgccaggaaccatatCaacaatggcagcatcaccag	13	6	10	12	0	2	0	2	0	0	0	2	1	2	1	3	3	4	3	3	3	4	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:74227810C>G	ENST00000316292.9	-	6	2198	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	EEF1A1_ENST00000309268.6_Missense_Mutation_p.D403H|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.D403H	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	403						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GGAACCATATCAACAATGGCA	0.423											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	14					0	0	0	0	G	74227810	C	G	74227810	3	3	465	1	0	0	0	0	1	0	0	0	4959	826	29	2	189	2	EEF1A1	6	74227810	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	2623839	74227810	96887257	48	90142											
TMEM30A	55754	broad.mit.edu	37	chr6	75968511	75968511	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatactgtatgtgacattcaAagagtatcggccagctggta	12	11	11	7	1	1	2	1	1	0	1	2	3	1	2	1	2	2	4	1	2	5	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:75968511A>G	ENST00000230461.6	-	6	1206	c.877T>C	c.(877-879)Ttg>Ctg	p.L293L	TMEM30A_ENST00000475111.2_Silent_p.L257L|TMEM30A_ENST00000370050.5_Silent_p.L174L	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	293						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGACATTCAAAGAGTATCGG	0.403													3	77					0	0	0	0	G	75968511	A	G	75968511	2	3	465	1	0	0	0	0	0	0	0	1	16247	11	1	5		5	TMEM30A	6	75968511	Silent	SNP	A	TCGA-P3-A6T3-01A-11D-A34J-08	1740701	75968511	95146556	49	90143											
MDN1	23195	broad.mit.edu	37	chr6	90399691	90399691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggcggcagagtctgttGataccagagggatcgagcaa	11	8	15	7	2	1	3	0	1	1	2	2	5	1	4	1	3	2	3	1	3	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:90399691G>C	ENST00000369393.3	-	65	11036	c.10921C>G	c.(10921-10923)Caa>Gaa	p.Q3641E	MDN1_ENST00000428876.1_Missense_Mutation_p.Q3641E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3641					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGAGTCTGTTGATACCAGAGG	0.502													21	89					0	0	0	0	C	90399691	G	C	90399691	3	2	465	1	0	0	0	0	1	0	0	0	9484	1299	45	2	6021	2	MDN1	6	90399691	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	14431180	90399691	80715376	50	90144											
MCHR2	84539	broad.mit.edu	37	chr6	100395746	100395746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caaacacccactctccccctCgggcccattggtgaataaga	11	7	7	16	1	1	2	0	1	1	1	3	2	1	2	4	2	1	0	4	2	3	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:100395746C>G	ENST00000281806.2	-	3	598	c.284G>C	c.(283-285)cGa>cCa	p.R95P	MCHR2_ENST00000445970.1_Missense_Mutation_p.R95P|MCHR2_ENST00000369212.1_Missense_Mutation_p.R95P	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	95						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTCCCCCTCGGGCCCATTG	0.488													29	104					0	0	0	0	G	100395746	C	G	100395746	3	3	465	1	0	0	0	0	1	0	0	0	9452	884	31	3	754	3	MCHR2	6	100395746	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	9996055	100395746	70719321	51	90145											
ULBP2	80328	broad.mit.edu	37	chr6	150267599	150267599	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttcgatgggcagatCttcctcctctttgactcaga	7	15	8	11	1	4	3	2	1	2	2	7	4	6	3	2	1	0	2	2	1	0	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:150267599C>A	ENST00000367351.3	+	3	514	c.441C>A	c.(439-441)atC>atA	p.I147I		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	147	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ATGGGCAGATCTTCCTCCTCT	0.507													8	239					5.18039e-06	5.38488e-06	1	0	A	150267599	C	A	150267599	2	1	465	1	0	0	0	0	0	0	0	1	17069	903	32	2		2	ULBP2	6	150267599	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	49871853	150267599	20847468	52	90146											
TTLL2	83887	broad.mit.edu	37	chr6	167753961	167753961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaatgactataccaagttCgtggctgaatactttcagga	12	11	8	10	1	1	2	1	2	0	0	2	3	1	3	2	2	2	2	2	2	6	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:167753961C>T	ENST00000239587.5	+	3	661	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	191	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATACCAAGTTCGTGGCTGAAT	0.498													22	89					0	0	0	0	T	167753961	C	T	167753961	2	4	465	1	0	0	0	0	0	0	0	1	16823	883	31	1		1	TTLL2	6	167753961	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	17486362	167753961	3361106	53	90147											
MRPS17	51373	broad.mit.edu	37	chr7	56020972	56020972	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcaaaagactgctaaagtGagagtgaccaggcttgttct	13	10	11	7	0	1	3	0	2	1	2	1	4	1	3	1	1	2	4	1	1	4	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:56020972G>C	ENST00000285298.4	+	2	213	c.84G>C	c.(82-84)gtG>gtC	p.V28V	MRPS17_ENST00000426595.1_Silent_p.V123V	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	28					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGCTAAAGTGAGAGTGACCA	0.468													25	148					0	0	0	0	C	56020972	G	C	56020972	2	2	465	1	0	0	0	0	0	0	0	1	9897	1277	45	2		2	MRPS17	7	56020972	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		56020972	103117691	54	90148											
PCLO	27445	broad.mit.edu	37	chr7	82584223	82584223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatgtaagctttctaactCataaaactctttctggaggt	13	14	7	7	0	4	1	1	0	3	1	4	2	4	2	0	2	3	2	0	2	5	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:82584223C>G	ENST00000423517.2	-	5	6383	c.6046G>C	c.(6046-6048)Gag>Cag	p.E2016Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E2016Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1947					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTCTAACTCATAAAACTCT	0.378													33	110					0	0	0	0	G	82584223	C	G	82584223	3	3	465	1	0	0	0	0	1	0	0	0	11654	835	29	2	9483	2	PCLO	7	82584223	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	26563251	82584223	76554440	55	90149											
GRM3	2913	broad.mit.edu	37	chr7	86415945	86415945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcttcatgcgcagcgaCgactcgcgggagctcattgc	6	9	12	14	5	3	0	2	0	1	0	5	3	4	1	1	1	4	2	1	1	0	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:86415945C>G	ENST00000361669.2	+	3	1936	c.837C>G	c.(835-837)gaC>gaG	p.D279E	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.D151E|GRM3_ENST00000439827.1_Missense_Mutation_p.D279E|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.D277E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	279					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCGCAGCGACGACTCGCGGG	0.657													7	70					0	0	0	0	G	86415945	C	G	86415945	3	3	465	1	0	0	0	0	1	0	0	0	6848	535	19	3	843	3	GRM3	7	86415945	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	3831722	86415945	72722718	56	90150											
ZNF789	285989	broad.mit.edu	37	chr7	99084299	99084299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacagcaggggcttccttCaaaaccttaaccttattcaa	14	11	5	11	0	2	0	2	0	0	0	3	0	3	0	3	2	4	2	3	2	7	6			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:99084299C>G	ENST00000331410.5	+	5	736	c.466C>G	c.(466-468)Caa>Gaa	p.Q156E	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGGCTTCCTTCAAAACCTTAA	0.403													19	89					0	0	0	0	G	99084299	C	G	99084299	3	3	465	1	0	0	0	0	1	0	0	0	18253	827	29	2	522	2	ZNF789	7	99084299	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	12668354	99084299	60054364	57	90151											
AKR1B15	441282	broad.mit.edu	37	chr7	134261178	134261178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagcacaaaaaaaccacagCccaggtaccatatttttatt	18	9	4	10	0	0	0	0	0	0	0	0	0	0	0	3	1	4	2	3	1	7	6			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:134261178C>A	ENST00000457545.2	+	9	1081	c.821C>A	c.(820-822)gCc>gAc	p.A274D	AKR1B15_ENST00000423958.1_Missense_Mutation_p.A246D	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	274							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AAAACCACAGCCCAGGTACCA	0.458													10	52					7.48243e-07	7.88149e-07	1	0	A	134261178	C	A	134261178	3	1	465	1	0	0	0	0	1	0	0	0	468	739	26	4	847	4	AKR1B15	7	134261178	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	35176879	134261178	24877485	58	90152											
FASTK	10922	broad.mit.edu	37	chr7	150776710	150776710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaggagggggccgtggccGagaccccaagagctggccca	9	2	16	14	2	0	2	0	0	0	2	0	4	0	3	5	5	1	1	5	5	1	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:150776710G>A	ENST00000540185.1	-	2	884	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	FASTK_ENST00000482571.1_Missense_Mutation_p.R128W|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000297532.6_Missense_Mutation_p.R128W|FASTK_ENST00000353841.2_Intron			Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	128					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCCGTGGCCGAGACCCCAAG	0.647													7	27					0	0	0	0	A	150776710	G	A	150776710	3	1	465	1	0	0	0	0	1	0	0	0	5729	1057	37	1	1303	1	FASTK	7	150776710	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	16515532	150776710	8361953	59	90153											
TAF2	6873	broad.mit.edu	37	chr8	120774829	120774829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcaatcatttctgcaCgataatagttatctgaaaac	14	12	7	8	1	4	1	2	1	2	0	4	2	4	1	0	1	2	3	0	1	6	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr8:120774829C>T	ENST00000378164.2	-	19	2682	c.2384G>A	c.(2383-2385)cGt>cAt	p.R795H	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	795					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATTTCTGCACGATAATAGTT	0.323													11	72					0	0	0	0	T	120774829	C	T	120774829	3	4	465	1	0	0	0	0	1	0	0	0	15615	536	19	1	1247	1	TAF2	8	120774829	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08		120774829	25589193	60	90154											
INSL6	11172	broad.mit.edu	37	chr9	5185550	5185550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagttcacgagaaaacCgaaccagcaggagtccaagc	14	4	10	13	3	2	1	2	0	0	1	3	4	3	2	3	1	4	3	3	1	4	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:5185550C>T	ENST00000381641.3	-	1	118	c.53G>A	c.(52-54)cGg>cAg	p.R18Q		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	18						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACGAGAAAACCGAACCAGCAG	0.597													4	26					0	0	0	0	T	5185550	C	T	5185550	3	4	465	1	0	0	0	0	1	0	0	0	7823	652	23	1	596	1	INSL6	9	5185550	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08		5185550	136027881	61	90155											
CDKN2A	1029	broad.mit.edu	37	chr9	21971138	21971138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgggtgagagtggcggggtCggcgcagttgggctccgcgc	3	7	21	10	6	0	1	0	1	0	1	3	2	1	1	1	6	0	3	1	6	0	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:21971138C>T	ENST00000579755.1	-	2	555	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D74N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R129Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R88Q|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	144			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D74Y(5)|p.D74N(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTGGCGGGGTCGGCGCAGTTG	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	3					0	0	0	0	T	21971138	C	T	21971138	3	4	465	1	0	0	0	0	1	0	0	0	3190	884	31	1	258	1	CDKN2A	9	21971138	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	16785588	21971138	119242293	62	90156											
LPAR1	1902	broad.mit.edu	37	chr9	113703978	113703978	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccataacgatggccatagtCcagatgaccacaatgaccac	14	6	7	14	1	0	3	0	2	0	1	1	4	1	3	5	1	1	0	5	1	3	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:113703978C>T	ENST00000374431.3	-	4	899	c.516G>A	c.(514-516)tgG>tgA	p.W172*	LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W172*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W172*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W173*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W173*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	172					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TGGCCATAGTCCAGATGACCA	0.502													23	73					0	0	0	0	T	113703978	C	T	113703978	4	4	465	1	0	0	0	0	0	1	0	0	8968	856	30	2	586	2	LPAR1	9	113703978	Nonsense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	91732840	113703978	27509453	63	90157											
C9orf96	169436	broad.mit.edu	37	chr9	136249652	136249652	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttgcaggtggaatgcatgGatgaccattacgccagtcag	10	9	12	10	1	1	1	1	1	0	0	1	3	1	3	3	3	3	2	3	3	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:136249652G>A	ENST00000371955.1	+	0	248				C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000371957.3_Missense_Mutation_p.D63N|C9orf96_ENST00000426926.2_Missense_Mutation_p.D63N			Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96								ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGAATGCATGGATGACCATTA	0.493													33	110					0	0	0	0	A	136249652	G	A	136249652	1	1	465	1	0	0	0	0	0	0	0	0	2533	1174	41	2		2	C9orf96	9	136249652	Translation_Start_Site	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	22545674	136249652	4963779	64	90158											
ITGA8	8516	broad.mit.edu	37	chr10	15647732	15647732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaaacttacggtctagccGacagcttcaagtcaggaaca	13	10	8	10	2	3	0	2	0	1	0	3	2	3	1	1	2	5	1	1	2	6	5	rs150148399		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:15647732G>A	ENST00000378076.3	-	19	2314	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	654					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGGTCTAGCCGACAGCTTCAA	0.388													12	60					0	0	0	0	A	15647732	G	A	15647732	3	1	465	1	0	0	0	0	1	0	0	0	7935	1059	37	1	1278	1	ITGA8	10	15647732	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		15647732	119887015	65	90159											
PCDH15	65217	broad.mit.edu	37	chr10	55839108	55839108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccccatctggcctgccatCtgaagctgtgatgatcagaa	10	9	9	13	0	3	4	1	3	2	1	3	4	3	4	4	1	2	1	4	1	2	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:55839108C>T	ENST00000373965.2	-	18	2489	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	PCDH15_ENST00000395445.1_Missense_Mutation_p.D699N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D692N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D692N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D621N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D697N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D655N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D692N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D692N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D670N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D670N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D692N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D303N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D692N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	692	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCCTGCCATCTGAAGCTGTG	0.433										HNSCC(58;0.16)			6	196					0	0	0	0	T	55839108	C	T	55839108	3	4	465	1	0	0	0	0	1	0	0	0	11582	913	32	2	5480	2	PCDH15	10	55839108	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	40191376	55839108	79695639	66	90160											
MYPN	84665	broad.mit.edu	37	chr10	69934314	69934314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtctctcctaccagccGgattcagaacccagtggctt	7	11	8	15	1	2	1	1	0	1	1	5	2	4	2	5	2	3	1	5	2	2	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:69934314G>T	ENST00000358913.5	+	11	2953	c.2465G>T	c.(2464-2466)cGg>cTg	p.R822L	MYPN_ENST00000354393.2_Missense_Mutation_p.R547L|MYPN_ENST00000540630.1_Missense_Mutation_p.R822L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	822	Pro-rich.					nucleus|sarcomere	actin binding	p.R822Q(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCTACCAGCCGGATTCAGAAC	0.557													11	47					3.86212e-05	3.98833e-05	1	0	T	69934314	G	T	69934314	3	4	465	1	0	0	0	0	1	0	0	0	10168	1116	39	3	2503	3	MYPN	10	69934314	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	14095206	69934314	65600433	67	90161											
CCAR1	55749	broad.mit.edu	37	chr10	70516064	70516064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattcgctaccatcgccctGaggagacccacaaggggcgt	10	6	12	13	3	0	3	0	1	0	2	2	4	0	3	3	3	1	1	3	3	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:70516064G>C	ENST00000265872.6	+	14	1779	c.1660G>C	c.(1660-1662)Gag>Cag	p.E554Q	CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.E539Q|CCAR1_ENST00000535016.1_Missense_Mutation_p.E539Q	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	554					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCATCGCCCTGAGGAGACCCA	0.473													4	67					0	0	0	0	C	70516064	G	C	70516064	3	2	465	1	0	0	0	0	1	0	0	0	2755	1291	45	2	1710	2	CCAR1	10	70516064	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	581750	70516064	65018683	68	90162											
TCTN3	26123	broad.mit.edu	37	chr10	97452743	97452743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaactcttgaaggaaacgGggaattactcctgaagataa	17	8	10	6	1	1	3	0	2	1	1	2	6	2	5	1	3	3	0	1	3	8	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:97452743G>A	ENST00000265993.8	-	3	676	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	TCTN3_ENST00000371217.4_Missense_Mutation_p.P163S|TCTN3_ENST00000430368.1_Missense_Mutation_p.P145S|TCTN3_ENST00000371209.5_Missense_Mutation_p.P145S	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	145					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GAAGGAAACGGGGAATTACTC	0.428													3	42					0	0	0	0	A	97452743	G	A	97452743	3	1	465	1	0	0	0	0	1	0	0	0	15818	1232	43	4	1438	4	TCTN3	10	97452743	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	26936679	97452743	38082004	69	90163											
COX15	1355	broad.mit.edu	37	chr10	101489468	101489468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctgtattgccctggcctCaaagggcgcctgatgcaatc	7	10	12	12	1	1	1	1	1	0	0	2	1	1	1	3	2	3	3	3	2	3	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:101489468C>G	ENST00000370483.5	-	2	164	c.114G>C	c.(112-114)ttG>ttC	p.L38F	COX15_ENST00000016171.5_Missense_Mutation_p.L38F|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	38					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCCCTGGCCTCAAAGGGCGCC	0.507													16	55					0	0	0	0	G	101489468	C	G	101489468	3	3	465	1	0	0	0	0	1	0	0	0	3794	825	29	2	1220	2	COX15	10	101489468	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	4036725	101489468	34045279	70	90164											
DNMBP	23268	broad.mit.edu	37	chr10	101716803	101716803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcccatggaatattccGgaatctgaaacagggcgctc	10	10	10	11	2	1	1	0	1	1	0	4	3	3	3	2	3	1	1	2	3	4	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:101716803G>A	ENST00000342239.3	-	4	519	c.428C>T	c.(427-429)cCg>cTg	p.P143L	DNMBP_ENST00000324109.4_Missense_Mutation_p.P143L|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	143					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			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)		GGAATATTCCGGAATCTGAAA	0.582													13	55					0	0	0	0	A	101716803	G	A	101716803	3	1	465	1	0	0	0	0	1	0	0	0	4710	1116	39	1	4361	1	DNMBP	10	101716803	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	227335	101716803	33817944	71	90165											
TDRD1	56165	broad.mit.edu	37	chr10	115970681	115970681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagttgcctccacgctctGatttttatccagccattggt	7	15	7	12	1	2	1	1	1	1	0	4	1	4	1	4	1	2	2	4	1	1	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:115970681G>A	ENST00000251864.2	+	13	1768	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	TDRD1_ENST00000369281.2_Missense_Mutation_p.D539N|TDRD1_ENST00000369280.1_Missense_Mutation_p.D539N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539N|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200N	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	539					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCACGCTCTGATTTTTATCC	0.348													19	56					0	0	0	0	A	115970681	G	A	115970681	3	1	465	1	0	0	0	0	1	0	0	0	15824	1290	45	2	1661	2	TDRD1	10	115970681	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	14253878	115970681	19564066	72	90166											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619301	1619301	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacacgggcttgcagcagcaGacaggcacataacatctgga	13	5	11	12	1	1	1	0	0	1	1	1	2	1	2	0	3	4	5	0	3	1	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:1619301G>C	ENST00000412090.1	-	1	223	c.180C>G	c.(178-180)gtC>gtG	p.V60V	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	60						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCAGCAGCAGACAGGCACAT	0.687													6	270					0	0	0	0	C	1619301	G	C	1619301	2	2	465	1	0	0	0	0	0	0	0	1	8614	929	33	2		2	KRTAP5-2	11	1619301	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		1619301	133387215	73	90167											
OR52N4	390072	broad.mit.edu	37	chr11	5776386	5776386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgctattcaactatcctcaCcaatcctgtaattgcaaagg	13	11	5	12	1	2	0	2	0	0	0	4	0	4	0	3	1	2	3	3	1	6	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:5776386C>A	ENST00000317254.3	+	1	464	c.416C>A	c.(415-417)aCc>aAc	p.T139N	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ACTATCCTCACCAATCCTGTA	0.507													15	139					1.3612e-06	1.42431e-06	1	0	A	5776386	C	A	5776386	3	1	465	1	0	0	0	0	1	0	0	0	11200	507	18	4	418	4	OR52N4	11	5776386	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	4157085	5776386	129230130	74	90168											
OR5P3	120066	broad.mit.edu	37	chr11	7846689	7846689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggaatcaccacggtgtaGaacacagacaccaccttgtt	13	8	9	11	1	1	2	1	0	0	2	1	3	1	3	3	2	1	2	3	2	3	3	rs450205		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:7846689G>C	ENST00000328375.1	-	1	830	c.831C>G	c.(829-831)ttC>ttG	p.F277L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACGGTGTAGAACACAGACA	0.458													16	90					0	0	0	0	C	7846689	G	C	7846689	3	2	465	1	0	0	0	0	1	0	0	0	11250	933	33	2	107	2	OR5P3	11	7846689	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	2070303	7846689	127159827	75	90169											
EEF1G	1937	broad.mit.edu	37	chr11	62340160	62340160	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctgagccccgctgtactGagcagcgatgagagccttga	9	7	13	12	2	0	4	0	4	0	1	0	7	0	4	4	0	5	3	4	0	1	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:62340160G>A	ENST00000378019.3	-	2	307	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	EEF1G_ENST00000329251.4_Nonsense_Mutation_p.Q23*|EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	23	GST N-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGCTGTACTGAGCAGCGATG	0.547													17	104					0	0	0	0	A	62340160	G	A	62340160	4	1	465	1	0	0	0	0	0	1	0	0	4964	1299	45	2	1282	2	EEF1G	11	62340160	Nonsense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	54493471	62340160	72666356	76	90170											
SHANK2	22941	broad.mit.edu	37	chr11	70332743	70332743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcggtcccttgcggagagtgCcagggccagcggggagctgg	5	6	19	11	3	0	1	0	0	0	1	2	3	1	2	3	6	4	1	3	6	0	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:70332743C>T	ENST00000338508.4	-	32	3657	c.3658G>A	c.(3658-3660)Gca>Aca	p.A1220T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A623T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A840T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A624T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	840					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCGGAGAGTGCCAGGGCCAGC	0.637													6	460					0	0	0	0	T	70332743	C	T	70332743	3	4	465	1	0	0	0	0	1	0	0	0	14353	739	26	4	1902	4	SHANK2	11	70332743	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	7992583	70332743	64673773	77	90171											
MAP6	4135	broad.mit.edu	37	chr11	75298484	75298484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgaacctttgcatgctctgGgactacaacatcttgatcct	9	13	8	11	0	2	2	0	2	2	0	3	3	3	3	2	1	5	2	2	1	3	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:75298484G>T	ENST00000304771.3	-	4	2812	c.2062C>A	c.(2062-2064)Cca>Aca	p.P688T	MAP6_ENST00000526740.1_Missense_Mutation_p.P359T|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	688	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GCATGCTCTGGGACTACAACA	0.493													26	332					2.79863e-10	3.02866e-10	1	0	T	75298484	G	T	75298484	3	4	465	1	0	0	0	0	1	0	0	0	9333	1232	43	4	383	4	MAP6	11	75298484	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	4965741	75298484	59708032	78	90172											
SESN3	143686	broad.mit.edu	37	chr11	94911876	94911876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaaagacatattatacctGagctcggaatgttggcaaat	15	12	8	6	1	0	2	0	1	0	1	1	3	0	3	1	2	2	3	1	2	7	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:94911876G>C	ENST00000536441.1	-	7	1390	c.1054C>G	c.(1054-1056)Cag>Gag	p.Q352E	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.Q213E|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	352					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TATTATACCTGAGCTCGGAAT	0.338													14	53					0	0	0	0	C	94911876	G	C	94911876	3	2	465	1	0	0	0	0	1	0	0	0	14213	1299	45	2	440	2	SESN3	11	94911876	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	19613392	94911876	40094640	79	90173											
R3HDM2	22864	broad.mit.edu	37	chr12	57662214	57662214	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaggcggctggaccacAttttgcgagtcactacccac	10	8	11	12	2	1	0	1	0	0	0	1	3	1	2	2	4	2	1	2	4	2	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:57662214A>G	ENST00000402412.1	-	18	2292	c.1902T>C	c.(1900-1902)aaT>aaC	p.N634N	R3HDM2_ENST00000393811.2_Silent_p.N347N|R3HDM2_ENST00000441731.2_Silent_p.N315N|R3HDM2_ENST00000546843.1_5'UTR|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000358907.2_Silent_p.N620N|R3HDM2_ENST00000403821.2_Silent_p.N654N|R3HDM2_ENST00000413953.2_Silent_p.N347N|R3HDM2_ENST00000347140.3_Silent_p.N620N			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	620	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCTGGACCACATTTTGCGAGT	0.527													19	55					0	0	0	0	G	57662214	A	G	57662214	2	3	465	1	0	0	0	0	0	0	0	1	12970	214	8	5		5	R3HDM2	12	57662214	Silent	SNP	A	TCGA-P3-A6T3-01A-11D-A34J-08		57662214	76189681	80	90174											
HAL	3034	broad.mit.edu	37	chr12	96370416	96370416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtcatagaccttctccagcgGagtggttgttttcaggggac	7	12	13	9	1	3	1	2	0	1	1	4	3	3	3	2	4	1	2	2	4	1	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:96370416G>C	ENST00000261208.3	-	19	2091	c.1723C>G	c.(1723-1725)Ccg>Gcg	p.P575A	HAL_ENST00000541929.1_Missense_Mutation_p.P367A|HAL_ENST00000538703.1_Missense_Mutation_p.P575A	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	575					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TTCTCCAGCGGAGTGGTTGTT	0.498													17	68					0	0	0	0	C	96370416	G	C	96370416	3	2	465	1	0	0	0	0	1	0	0	0	6997	1174	41	2	262	2	HAL	12	96370416	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	38708202	96370416	37481479	81	90175											
MSI1	4440	broad.mit.edu	37	chr12	120789176	120789176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggaggactggggcgctcGggagaggggtccgctctaca	6	5	20	10	4	1	1	0	0	1	1	3	4	2	3	1	8	1	2	1	8	1	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:120789176G>T	ENST00000257552.2	-	11	849	c.761C>A	c.(760-762)cCg>cAg	p.P254Q		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	254					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGCGCTCGGGAGAGGGGT	0.562													3	31					1	1	1	0	T	120789176	G	T	120789176	3	4	465	1	0	0	0	0	1	0	0	0	9945	1116	39	3	343	3	MSI1	12	120789176	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	24418760	120789176	13062719	82	90176											
ANKLE2	23141	broad.mit.edu	37	chr12	133312019	133312019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcaaagcctctttccGggtccgacttcttgacgtgg	5	13	9	14	3	4	1	1	1	3	0	7	2	6	1	3	2	1	0	3	2	1	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:133312019G>A	ENST00000539605.1	-	8	8171	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000337516.5_Missense_Mutation_p.P558L|ANKLE2_ENST00000357997.5_Missense_Mutation_p.P558L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	558						cytoplasm|integral to membrane|nuclear envelope		p.P558Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCCTCTTTCCGGGTCCGACTT	0.478													31	117					0	0	0	0	A	133312019	G	A	133312019	3	1	465	1	0	0	0	0	1	0	0	0	633	1116	39	1	1163	1	ANKLE2	12	133312019	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	12522843	133312019	539876	83	90177											
NBEA	26960	broad.mit.edu	37	chr13	35672472	35672472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggttgaactacttaaaaGttcagtagccatgcaagaac	14	10	8	9	0	1	2	1	1	0	1	1	2	1	2	2	1	5	4	2	1	7	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr13:35672472G>A	ENST00000400445.3	+	11	2144	c.1610G>A	c.(1609-1611)aGt>aAt	p.S537N	NBEA_ENST00000379939.2_Missense_Mutation_p.S537N|NBEA_ENST00000310336.4_Missense_Mutation_p.S537N|NBEA_ENST00000540320.1_Missense_Mutation_p.S537N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	537						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTACTTAAAAGTTCAGTAGCC	0.368													10	4					0	0	0	0	A	35672472	G	A	35672472	3	1	465	1	0	0	0	0	1	0	0	0	10257	1029	36	4	1652	4	NBEA	13	35672472	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		35672472	79497406	84	90178											
LAMP1	3916	broad.mit.edu	37	chr13	113975980	113975980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtgtcacgaaggcgttttCagtcaatatattcaaagtgt	11	13	9	8	3	4	0	4	0	0	0	4	1	4	0	1	1	0	1	1	1	5	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr13:113975980C>T	ENST00000332556.4	+	8	1246	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	LAMP1_ENST00000397181.3_Missense_Mutation_p.S298L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	351	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AAGGCGTTTTCAGTCAATATA	0.577													23	117					0	0	0	0	T	113975980	C	T	113975980	3	4	465	1	0	0	0	0	1	0	0	0	8670	838	29	2	1082	2	LAMP1	13	113975980	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	78303508	113975980	1193898	85	90179											
MAP4K5	11183	broad.mit.edu	37	chr14	50935382	50935382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacacctcattgggtggaGatcaaacataggtggctgaa	14	8	12	7	0	2	3	2	1	0	2	2	4	2	3	1	4	2	1	1	4	4	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr14:50935382G>T	ENST00000013125.4	-	10	979	c.661C>A	c.(661-663)Ctc>Atc	p.L221I		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	221	Protein kinase.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATTGGGTGGAGATCAAACATA	0.393													9	44					0.000673444	0.000682078	1	0	T	50935382	G	T	50935382	3	4	465	1	0	0	0	0	1	0	0	0	9332	942	33	2	1971	2	MAP4K5	14	50935382	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		50935382	56414158	86	90180											
TDP1	55775	broad.mit.edu	37	chr14	90509416	90509416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtgtttttcccccagatCggccatggatatggaacatt	10	13	9	9	1	0	1	0	0	0	1	2	3	1	3	3	3	1	1	3	3	3	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr14:90509416C>T	ENST00000335725.4	+	17	2006	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	TDP1_ENST00000555880.1_Silent_p.I549I|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.R586W|TDP1_ENST00000357382.3_Missense_Mutation_p.R347W	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	586					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCCCCAGATCGGCCATGGAT	0.418								Repair of DNA-protein crosslinks					26	60					0	0	0	0	T	90509416	C	T	90509416	3	4	465	1	0	0	0	0	1	0	0	0	15822	875	31	1	1814	1	TDP1	14	90509416	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	39574034	90509416	16840124	87	90181											
DMXL2	23312	broad.mit.edu	37	chr15	51772275	51772275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttgacgcaatacttgctGaaagcagaggtagggtggta	11	11	14	5	1	0	3	0	2	0	1	0	3	0	3	0	3	3	6	0	3	5	6			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr15:51772275G>A	ENST00000251076.5	-	25	6913	c.6626C>T	c.(6625-6627)tCa>tTa	p.S2209L	DMXL2_ENST00000543779.2_Missense_Mutation_p.S2209L|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1573L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2209						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AATACTTGCTGAAAGCAGAGG	0.363													38	135					0	0	0	0	A	51772275	G	A	51772275	3	1	465	1	0	0	0	0	1	0	0	0	4632	1294	45	2	2563	2	DMXL2	15	51772275	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		51772275	50759117	88	90182											
CGNL1	84952	broad.mit.edu	37	chr15	57823951	57823951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaactcagatttgctgtctGagaggatcagtaggagcagg	12	9	13	7	0	3	2	2	1	1	2	3	5	3	4	0	3	3	3	0	3	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr15:57823951G>C	ENST00000281282.5	+	14	3343	c.3265G>C	c.(3265-3267)Gag>Cag	p.E1089Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1089						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTTGCTGTCTGAGAGGATCAG	0.443													17	60					0	0	0	0	C	57823951	G	C	57823951	3	2	465	1	0	0	0	0	1	0	0	0	3333	1291	45	2	3315	2	CGNL1	15	57823951	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	6051676	57823951	44707441	89	90183											
NPTN	27020	broad.mit.edu	37	chr15	73925519	73925519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagagaccagcaacagcGagagggccagggcgctgggc	11	1	17	12	2	0	2	0	0	0	2	0	4	0	2	3	3	4	2	3	3	1	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr15:73925519G>A	ENST00000351217.6	-	1	956	c.38C>T	c.(37-39)tCg>tTg	p.S13L	NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000563691.1_Missense_Mutation_p.S13L|NPTN_ENST00000545878.1_Missense_Mutation_p.S13L|NPTN_ENST00000542234.1_Missense_Mutation_p.S13L|NPTN_ENST00000345330.4_Missense_Mutation_p.S13L|NPTN_ENST00000287226.8_Missense_Mutation_p.S13L|NPTN_ENST00000562924.1_Missense_Mutation_p.S13L	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	13					elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAGCAACAGCGAGAGGGCCAG	0.746													4	15					0	0	0	0	A	73925519	G	A	73925519	3	1	465	1	0	0	0	0	1	0	0	0	10672	1059	37	1	1190	1	NPTN	15	73925519	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	16101568	73925519	28605873	90	90184											
ABHD2	11057	broad.mit.edu	37	chr15	89719083	89719083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatggtgaactacatcaaGaagacatatcccctgaccca	14	7	7	13	0	1	4	1	2	0	2	2	4	2	4	4	1	2	0	4	1	5	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr15:89719083G>C	ENST00000352732.5	+	6	1099	c.579G>C	c.(577-579)aaG>aaC	p.K193N	ABHD2_ENST00000565973.1_Missense_Mutation_p.K193N|ABHD2_ENST00000355100.3_Missense_Mutation_p.K193N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	193						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACTACATCAAGAAGACATATC	0.507													19	87					0	0	0	0	C	89719083	G	C	89719083	3	2	465	1	0	0	0	0	1	0	0	0	82	933	33	2	593	2	ABHD2	15	89719083	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	15793564	89719083	12812309	91	90185											
UBE2I	7329	broad.mit.edu	37	chr16	1364314	1364314	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcgtggctgtcccaacAaaaaatcccgatggcacgat	11	9	10	11	3	0	0	0	0	0	0	3	2	2	0	2	3	1	3	2	3	4	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:1364314A>C	ENST00000355803.4	+	3	638	c.87A>C	c.(85-87)acA>acC	p.T29T	UBE2I_ENST00000402301.1_Silent_p.T29T|UBE2I_ENST00000406620.1_Silent_p.T29T|UBE2I_ENST00000325437.5_Silent_p.T29T|UBE2I_ENST00000397514.3_Silent_p.T29T|UBE2I_ENST00000403747.2_Silent_p.T29T|UBE2I_ENST00000397515.2_Silent_p.T29T|UBE2I_ENST00000566587.1_Silent_p.T29T	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	29					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTGTCCCAACAAAAAATCCCG	0.547													23	42					0	0	0	0	C	1364314	A	C	1364314	2	2	465	1	0	0	0	0	0	0	0	1	16955	117	5	5		5	UBE2I	16	1364314	Silent	SNP	A	TCGA-P3-A6T3-01A-11D-A34J-08		1364314	88990439	92	90186											
ANKS3	124401	broad.mit.edu	37	chr16	4755233	4755233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggcaggactcgtcagaaGagctcagatcttcgtacttt	10	10	11	10	2	3	3	2	0	1	3	5	4	3	4	0	2	2	3	0	2	2	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:4755233G>C	ENST00000304283.4	-	8	1025	c.731C>G	c.(730-732)tCt>tGt	p.S244C	ANKS3_ENST00000585773.1_Missense_Mutation_p.S171C|ANKS3_ENST00000446014.2_Missense_Mutation_p.S115C|ANKS3_ENST00000450067.2_Missense_Mutation_p.S38C	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	244										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTCGTCAGAAGAGCTCAGATC	0.502													18	64					0	0	0	0	C	4755233	G	C	4755233	3	2	465	1	0	0	0	0	1	0	0	0	689	942	33	2	1279	2	ANKS3	16	4755233	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	3390919	4755233	85599520	93	90187											
GLYR1	84656	broad.mit.edu	37	chr16	4881985	4881985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagaaaacaaaccttctCatcctttgggggccgacccc	12	7	9	13	1	1	2	1	0	1	2	3	4	2	2	5	2	2	0	5	2	3	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:4881985C>T	ENST00000321919.9	-	5	608	c.532G>A	c.(532-534)Gag>Aag	p.E178K	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000591451.1_Missense_Mutation_p.E178K|GLYR1_ENST00000381983.3_Missense_Mutation_p.E178K	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	178					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CAAACCTTCTCATCCTTTGGG	0.488													14	57					0	0	0	0	T	4881985	C	T	4881985	3	4	465	1	0	0	0	0	1	0	0	0	6534	835	29	2	1177	2	GLYR1	16	4881985	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	126752	4881985	85472768	94	90188											
ABCC1	4363	broad.mit.edu	37	chr16	16142160	16142160	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctctacctcctgtggctGgtgtgtgtttaacgccgttt	3	16	11	11	2	1	0	0	0	1	0	3	0	2	0	3	2	2	4	3	2	2	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:16142160G>A	ENST00000399408.2	+	10	1555	c.1380_splice	c.e10+1	p.L460_splice	ABCC1_ENST00000399410.3_Splice_Site_p.L460_splice|ABCC1_ENST00000346370.5_Splice_Site_p.L460_splice|ABCC1_ENST00000351154.5_Splice_Site_p.L460_splice|ABCC1_ENST00000349029.5_Splice_Site_p.L460_splice|ABCC1_ENST00000345148.5_Splice_Site_p.L460_splice			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	460	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCCTGTGGCTGGTGTGTGTTT	0.552													25	98					0	0	0	0	A	16142160	G	A	16142160	5	1	465	1	0	0	0	0	0	0	1	0	49	1362	47	4	1418	4	ABCC1	16	16142160	Splice_Site	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	11260175	16142160	74212593	95	90189											
ZFP90	146198	broad.mit.edu	37	chr16	68598406	68598406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatctctcattcagcatgaGagaactcatactggagagaa	14	10	8	9	0	5	3	4	1	1	2	6	6	5	4	0	1	3	1	0	1	3	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:68598406G>C	ENST00000570495.1	+	5	2008	c.1716G>C	c.(1714-1716)gaG>gaC	p.E572D	ZFP90_ENST00000563169.2_Missense_Mutation_p.E572D|ZFP90_ENST00000398253.2_Missense_Mutation_p.E572D|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	572					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTCAGCATGAGAGAACTCATA	0.428													6	248					0	0	0	0	C	68598406	G	C	68598406	3	2	465	1	0	0	0	0	1	0	0	0	17749	933	33	2	1730	2	ZFP90	16	68598406	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	52456246	68598406	21756347	96	90190											
ZFP90	146198	broad.mit.edu	37	chr16	68598490	68598490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaacctgcatgatcatcaGagaattcatactggagaaaa	17	8	7	9	0	3	3	3	1	0	2	3	5	3	3	2	1	3	1	2	1	5	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:68598490G>C	ENST00000570495.1	+	5	2092	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	ZFP90_ENST00000563169.2_Missense_Mutation_p.Q600H|ZFP90_ENST00000398253.2_Missense_Mutation_p.Q600H|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	600					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATGATCATCAGAGAATTCATA	0.408													5	292					0	0	0	0	C	68598490	G	C	68598490	3	2	465	1	0	0	0	0	1	0	0	0	17749	933	33	2	1814	2	ZFP90	16	68598490	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	84	68598490	21756263	97	90191											
PLCG2	5336	broad.mit.edu	37	chr16	81972454	81972454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggacgaagtattgcctgtCcctttgtagaagtggagatc	9	13	12	7	1	0	2	0	0	0	2	2	5	1	3	2	2	1	2	2	2	4	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:81972454C>A	ENST00000359376.3	+	29	3461	c.3247C>A	c.(3247-3249)Ccc>Acc	p.P1083T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1083	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TATTGCCTGTCCCTTTGTAGA	0.527													10	58					9.70103e-10	1.0427e-09	1	0	A	81972454	C	A	81972454	3	1	465	1	0	0	0	0	1	0	0	0	12108	855	30	2	3357	2	PLCG2	16	81972454	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	13373964	81972454	8382299	98	90192											
CRISPLD2	83716	broad.mit.edu	37	chr16	84906615	84906615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtctagcatatgccgCgccgccatccactacgggat	8	8	10	15	5	1	0	0	0	1	0	3	1	2	1	4	1	3	1	4	1	3	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:84906615C>T	ENST00000262424.5	+	10	1223	c.999C>T	c.(997-999)cgC>cgT	p.R333R	CRISPLD2_ENST00000567845.1_Silent_p.R332R|CRISPLD2_ENST00000564567.1_Silent_p.R333R	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCATATGCCGCGCCGCCATCC	0.552													62	132					0	0	0	0	T	84906615	C	T	84906615	2	4	465	1	0	0	0	0	0	0	0	1	3913	755	27	1		1	CRISPLD2	16	84906615	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	2934161	84906615	5448138	99	90193											
GINS2	51659	broad.mit.edu	37	chr16	85721081	85721081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttacctacatccatccactCtggagggagcaggcgacatt	10	9	9	13	1	1	0	0	0	1	0	3	3	3	2	3	3	3	1	3	3	2	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:85721081C>G	ENST00000253462.3	-	2	290	c.190G>C	c.(190-192)Gag>Cag	p.E64Q		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	64					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						TCCATCCACTCTGGAGGGAGC	0.607													16	108					0	0	0	0	G	85721081	C	G	85721081	3	3	465	1	0	0	0	0	1	0	0	0	6439	922	32	2	383	2	GINS2	16	85721081	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	814466	85721081	4633672	100	90194											
CDH15	1013	broad.mit.edu	37	chr16	89261437	89261437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagactgggggccccgcttCgcccggctggcagacatgta	7	6	15	13	3	0	2	0	0	0	2	1	3	0	2	3	4	0	4	3	4	1	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:89261437C>T	ENST00000289746.2	+	14	2384	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	773					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			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)		GGCCCCGCTTCGCCCGGCTGG	0.672													6	18					0	0	0	0	T	89261437	C	T	89261437	2	4	465	1	0	0	0	0	0	0	0	1	3129	883	31	1		1	CDH15	16	89261437	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	3540356	89261437	1093316	101	90195											
ANKRD11	29123	broad.mit.edu	37	chr16	89357577	89357577	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttaatcctcttccgctCagggccctgcttctctgtga	4	15	7	15	1	4	1	1	1	3	0	7	1	6	1	3	1	1	2	3	1	1	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:89357577C>A	ENST00000301030.4	-	5	701	c.241G>T	c.(241-243)Gag>Tag	p.E81*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E81*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	81						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCTTCCGCTCAGGGCCCTGC	0.607													8	73					7.48243e-07	7.88149e-07	1	0	A	89357577	C	A	89357577	4	1	465	1	0	0	0	0	0	1	0	0	639	835	29	2	7786	2	ANKRD11	16	89357577	Nonsense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	96140	89357577	997176	102	90196											
PITPNM3	83394	broad.mit.edu	37	chr17	6373655	6373655	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggggcagggccacggtGgggaaggccgtgaggacatc	8	4	21	8	2	0	1	0	1	0	0	1	3	0	3	2	9	0	1	2	9	1	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:6373655G>T	ENST00000262483.8	-	13	1785	c.1698C>A	c.(1696-1698)ccC>ccA	p.P566P	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.P530P	NM_031220.3	NP_112497.2																					GGGCCACGGTGGGGAAGGCCG	0.622													24	24					1.66031e-10	1.80916e-10	1	0	T	6373655	G	T	6373655	2	4	465	1	0	0	0	0	0	0	0	1	12024	1335	47	4		4	PITPNM3	17	6373655	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		6373655	74821555	103	90197											
C17orf74	201243	broad.mit.edu	37	chr17	7329557	7329557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtcccccagacaaggctCaggatgtccacatccactgc	9	7	10	15	0	1	1	1	0	0	1	4	2	4	2	4	3	1	1	4	3	1	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:7329557C>G	ENST00000333870.3	+	3	321	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	83						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGACAAGGCTCAGGATGTCCA	0.542													24	90					0	0	0	0	G	7329557	C	G	7329557	3	3	465	1	0	0	0	0	1	0	0	0	1895	827	29	2	257	2	C17orf74	17	7329557	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	955902	7329557	73865653	104	90198											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			38	71					0	0	0	0	A	7577022	G	A	7577022	4	1	465	1	0	0	0	0	0	1	0	0	16476	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	247465	7577022	73618188	105	90199											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			32	64					0	0	0	0	T	7577548	C	T	7577548	3	4	465	1	0	0	0	0	1	0	0	0	16476	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	526	7577548	73617662	106	90200											
CHD3	1107	broad.mit.edu	37	chr17	7797866	7797866	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccctcgtgcctaccacctCgtctgccttgatcctgagct	4	12	8	17	2	1	2	0	2	1	0	4	2	2	2	6	0	5	1	6	0	1	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:7797866C>T	ENST00000380358.4	+	8	1387	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	CHD3_ENST00000358181.4_Silent_p.L403L|CHD3_ENST00000330494.7_Silent_p.L403L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	403					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTACCACCTCGTCTGCCTTG	0.567													5	148					0	0	0	0	T	7797866	C	T	7797866	2	4	465	1	0	0	0	0	0	0	0	1	3355	871	31	1		1	CHD3	17	7797866	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	220318	7797866	73397344	107	90201											
ATAD5	79915	broad.mit.edu	37	chr17	29220963	29220963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttagtcttgagagtaatGatggatggacttctcaaagc	12	13	11	5	0	2	2	1	2	2	1	3	5	2	4	0	2	1	2	0	2	3	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:29220963G>T	ENST00000321990.4	+	21	5470	c.5092G>T	c.(5092-5094)Gat>Tat	p.D1698Y		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1698					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGAGAGTAATGATGGATGGAC	0.378													32	91					5.60225e-13	6.23349e-13	1	0	T	29220963	G	T	29220963	3	4	465	1	0	0	0	0	1	0	0	0	1080	1290	45	2	5174	2	ATAD5	17	29220963	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	21423097	29220963	51974247	108	90202											
ANKFN1	162282	broad.mit.edu	37	chr17	54535256	54535256	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaagatataaggtggctGaggcaaagcataccaatatc	15	8	12	6	0	0	2	0	1	0	1	1	3	0	3	1	4	2	3	1	4	7	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:54535256G>A	ENST00000566473.2	+	13	1482	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	ANKFN1_ENST00000318698.2_Silent_p.L494L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	494										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAGGTGGCTGAGGCAAAGCA	0.478													29	88					0	0	0	0	A	54535256	G	A	54535256	2	1	465	1	0	0	0	0	0	0	0	1	625	1277	45	2		2	ANKFN1	17	54535256	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	25314293	54535256	26659954	109	90203											
RNF213	57674	broad.mit.edu	37	chr17	78320894	78320894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccaagggcatctgctcctCagacatcctcgtccaggacc	8	7	9	17	2	2	1	1	0	1	1	6	2	5	2	5	2	1	2	5	2	1	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:78320894C>T	ENST00000582970.1	+	29	8902	c.8759C>T	c.(8758-8760)tCa>tTa	p.S2920L	RNF213_ENST00000508628.2_Missense_Mutation_p.S2969L|RNF213_ENST00000336301.6_Missense_Mutation_p.S993L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			ATCTGCTCCTCAGACATCCTC	0.567													8	27					0	0	0	0	T	78320894	C	T	78320894	3	4	465	1	0	0	0	0	1	0	0	0	13562	838	29	2	9188	2	RNF213	17	78320894	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	23785638	78320894	2874316	110	90204											
RNF213	57674	broad.mit.edu	37	chr17	78321708	78321708	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatcgtggaggagctCtgtgcgtgggtggagaagtt	9	9	18	5	2	1	2	0	0	1	2	2	5	1	4	0	4	3	3	0	4	2	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:78321708C>A	ENST00000582970.1	+	29	9716	c.9573C>A	c.(9571-9573)ctC>ctA	p.L3191L	RNF213_ENST00000508628.2_Silent_p.L3240L|RNF213_ENST00000336301.6_Silent_p.L1264L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			TGGAGGAGCTCTGTGCGTGGG	0.512													8	35					0.000157383	0.000161471	1	0	A	78321708	C	A	78321708	2	1	465	1	0	0	0	0	0	0	0	1	13562	900	32	2		2	RNF213	17	78321708	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	814	78321708	2873502	111	90205											
APCDD1	147495	broad.mit.edu	37	chr18	10471966	10471966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaacctcgaccacctggtcGaggagctcttccttggtgac	8	9	10	14	2	1	1	0	1	1	0	4	4	2	2	4	3	2	1	4	3	1	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr18:10471966G>A	ENST00000355285.4	+	3	1036	c.682G>A	c.(682-684)Gag>Aag	p.E228K	APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	228					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCACCTGGTCGAGGAGCTCTT	0.567													41	184					0	0	0	0	A	10471966	G	A	10471966	3	1	465	1	0	0	0	0	1	0	0	0	766	1059	37	1	692	1	APCDD1	18	10471966	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		10471966	67605282	112	90206											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745068	21745068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacttggacctgtttttgCgggctgctctttgtttttcc	2	19	10	10	1	1	1	0	1	1	0	2	2	2	2	2	2	2	4	2	2	0	6			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr18:21745068C>T	ENST00000319481.3	-	27	2917	c.2711G>A	c.(2710-2712)cGc>cAc	p.R904H	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R522H|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.R391H	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	904					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCTGTTTTTGCGGGCTGCTCT	0.488													5	281					0	0	0	0	T	21745068	C	T	21745068	3	4	465	1	0	0	0	0	1	0	0	0	11348	768	27	1	149	1	OSBPL1A	18	21745068	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	11273102	21745068	56332180	113	90207											
FAM69C	125704	broad.mit.edu	37	chr18	72103933	72103933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcgcggaaaaccaatggcGaaatattttgtcacagatga	15	8	11	7	3	1	2	1	1	0	1	1	4	1	3	1	3	1	0	1	3	5	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr18:72103933G>A	ENST00000343998.6	-	4	1071	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	FAM69C_ENST00000400291.2_Missense_Mutation_p.R56C	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	355						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						AACCAATGGCGAAATATTTTG	0.522													6	28					0	0	0	0	A	72103933	G	A	72103933	3	1	465	1	0	0	0	0	1	0	0	0	5650	1058	37	1	200	1	FAM69C	18	72103933	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	50358865	72103933	5973315	114	90208											
EEF2	1938	broad.mit.edu	37	chr19	3979393	3979393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccaggtgcagctcgccGgcgcccgcgatgatatgctc	6	8	12	15	5	1	1	0	1	1	0	4	2	1	1	3	2	3	3	3	2	1	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:3979393G>A	ENST00000309311.6	-	11	1735	c.1647C>T	c.(1645-1647)gcC>gcT	p.A549A		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	549						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTCGCCGGCGCCCGCGA	0.657													36	52					0	0	0	0	A	3979393	G	A	3979393	2	1	465	1	0	0	0	0	0	0	0	1	4965	1103	39	1		1	EEF2	19	3979393	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		3979393	55149590	115	90209											
ELAVL1	1994	broad.mit.edu	37	chr19	8028517	8028517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgttggtgttgaagtcGcggatcactttcacattggt	7	15	11	8	2	2	1	2	1	0	0	3	2	2	2	0	3	0	2	0	3	1	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:8028517G>A	ENST00000407627.2	-	6	960	c.831C>T	c.(829-831)cgC>cgT	p.R277R	ELAVL1_ENST00000596459.1_Silent_p.R277R|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000351593.5_Silent_p.R304R	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	277	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGTTGAAGTCGCGGATCACTT	0.547													81	99					0	0	0	0	A	8028517	G	A	8028517	2	1	465	1	0	0	0	0	0	0	0	1	5087	1074	38	1		1	ELAVL1	19	8028517	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	4049124	8028517	51100466	116	90210											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41808584	41808584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctagccaacttcacgttgCcagatgttggggacttcctg	7	12	10	12	1	1	1	1	0	0	1	3	2	3	2	4	2	3	2	4	2	2	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:41808584C>T	ENST00000392006.3	+	12	1875	c.1702C>T	c.(1702-1704)Cca>Tca	p.P568S	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P568S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P479S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P454S	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	568	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTTCACGTTGCCAGATGTTGG	0.552													14	76					0	0	0	0	T	41808584	C	T	41808584	3	4	465	1	0	0	0	0	1	0	0	0	7324	739	26	4	1748	4	HNRNPUL1	19	41808584	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	33780067	41808584	17320399	117	90211											
SLC8A2	6543	broad.mit.edu	37	chr19	47969076	47969076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtgacaaagaagactctCaggtgcttgatcttgcggct	10	10	12	9	1	2	4	1	2	2	2	3	4	2	4	0	2	2	3	0	2	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:47969076C>T	ENST00000236877.6	-	2	980	c.585G>A	c.(583-585)ctG>ctA	p.L195L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	195					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGAAGACTCTCAGGTGCTTGA	0.552													15	28					0	0	0	0	T	47969076	C	T	47969076	2	4	465	1	0	0	0	0	0	0	0	1	14795	813	29	2		2	SLC8A2	19	47969076	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	6160492	47969076	11159907	118	90212											
ZNF615	284370	broad.mit.edu	37	chr19	52496987	52496987	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctctccagtatgtgttcGctgatgtctgatgagtgggc	5	16	12	8	1	2	3	0	3	2	0	5	3	3	3	1	1	0	3	1	1	1	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:52496987G>A	ENST00000602063.1	-	6	1691	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R448*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R459*|ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R459*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R453*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTATGTGTTCGCTGATGTCTG	0.443													6	61					0	0	0	0	A	52496987	G	A	52496987	4	1	465	1	0	0	0	0	0	1	0	0	18135	1095	38	1	857	1	ZNF615	19	52496987	Nonsense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	4527911	52496987	6631996	119	90213											
SIRPG	55423	broad.mit.edu	37	chr20	1629713	1629713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccacccaaagccatctCagtgcctggtccagacttaa	11	8	6	16	0	2	1	2	0	1	1	4	1	3	1	5	1	2	0	5	1	2	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:1629713C>T	ENST00000381580.1	-	2	495	c.316G>A	c.(316-318)Gag>Aag	p.E106K	SIRPG_ENST00000344103.4_Missense_Mutation_p.E139K|SIRPG_ENST00000381583.2_Missense_Mutation_p.E139K|SIRPG_ENST00000303415.3_Missense_Mutation_p.E139K|SIRPG_ENST00000216927.4_Missense_Mutation_p.E139K			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	139	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AAAGCCATCTCAGTGCCTGGT	0.483													27	157					0	0	0	0	T	1629713	C	T	1629713	3	4	465	1	0	0	0	0	1	0	0	0	14424	835	29	2	764	2	SIRPG	20	1629713	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08		1629713	61395807	120	90214											
OXT	5020	broad.mit.edu	37	chr20	3052340	3052340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcttgctgtctgctcggcctCctggcgctgacctccgcctg	1	11	12	17	3	1	1	0	1	1	0	4	1	3	1	5	2	2	4	5	2	0	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:3052340C>T	ENST00000217386.2	+	1	75	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	13					signal transduction		neurohypophyseal hormone activity			lung(2)	2					Oxytocin(DB00107)	TGCTCGGCCTCCTGGCGCTGA	0.701													5	12					0	0	0	0	T	3052340	C	T	3052340	2	4	465	1	0	0	0	0	0	0	0	1	11408	842	30	2		2	OXT	20	3052340	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	1422627	3052340	59973180	121	90215											
ABHD12	26090	broad.mit.edu	37	chr20	25284224	25284224	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccaccgggtcgtcctCagcgtgcaggatgagcaggg	7	5	17	12	3	1	1	1	1	0	0	3	2	2	2	3	4	3	3	3	4	0	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:25284224C>A	ENST00000339157.5	-	11	1263	c.991G>T	c.(991-993)Gag>Tag	p.E331*	ABHD12_ENST00000376542.3_Nonsense_Mutation_p.E331*	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	331						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GGGTCGTCCTCAGCGTGCAGG	0.617													14	66					6.72482e-11	7.37863e-11	1	0	A	25284224	C	A	25284224	4	1	465	1	0	0	0	0	0	1	0	0	76	835	29	2	279	2	ABHD12	20	25284224	Nonsense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	22231884	25284224	37741296	122	90216											
NCOA6	23054	broad.mit.edu	37	chr20	33328669	33328669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaccctggactattggtCaaaaggggagaaaccattgt	13	8	13	7	0	1	1	1	0	0	1	1	5	1	3	2	5	1	0	2	5	4	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:33328669C>T	ENST00000374796.2	-	12	7961	c.5391G>A	c.(5389-5391)ttG>ttA	p.L1797L	NCOA6_ENST00000359003.2_Silent_p.L1797L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1797	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACTATTGGTCAAAAGGGGAG	0.488													18	105					0	0	0	0	T	33328669	C	T	33328669	2	4	465	1	0	0	0	0	0	0	0	1	10303	825	29	2		2	NCOA6	20	33328669	Silent	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	8044445	33328669	29696851	123	90217											
SGK2	10110	broad.mit.edu	37	chr20	42213636	42213636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttatgcgccagaggatGatgacatcttggattgctag	9	14	11	7	1	2	3	0	2	2	1	2	5	2	5	1	2	2	1	1	2	2	5			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:42213636G>A	ENST00000373100.1	+	14	1544	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	SGK2_ENST00000373077.1_Missense_Mutation_p.D361N|SGK2_ENST00000426287.1_Missense_Mutation_p.D388N|SGK2_ENST00000341458.4_Missense_Mutation_p.D422N|SGK2_ENST00000373092.3_Missense_Mutation_p.D362N|SGK2_ENST00000423407.3_Missense_Mutation_p.D362N			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	422	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCAGAGGATGATGACATCTT	0.507													5	125					0	0	0	0	A	42213636	G	A	42213636	3	1	465	1	0	0	0	0	1	0	0	0	14296	1290	45	2	1310	2	SGK2	20	42213636	Missense_Mutation	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08	8884967	42213636	20811884	124	90218											
HIC2	23119	broad.mit.edu	37	chr22	21799304	21799304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcagctgaaccagcagagGaccaagggcttcctgtgtga	10	7	13	11	0	0	3	0	2	0	1	1	4	1	4	3	2	4	4	3	2	2	1			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:21799304G>A	ENST00000443632.2	+	2	492	c.120G>A	c.(118-120)agG>agA	p.R40R	HIC2_ENST00000407598.2_Silent_p.R40R|HIC2_ENST00000407464.2_Silent_p.R40R			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	40					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACCAGCAGAGGACCAAGGGCT	0.627													42	95					0	0	0	0	A	21799304	G	A	21799304	2	1	465	1	0	0	0	0	0	0	0	1	7152	1165	41	2		2	HIC2	22	21799304	Silent	SNP	G	TCGA-P3-A6T3-01A-11D-A34J-08		21799304	29505262	125	90219											
PIWIL3	440822	broad.mit.edu	37	chr22	25121477	25121477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggatgacacattgagagTaccacctgttcacagaaaaa	15	9	8	9	0	2	3	1	2	1	2	2	5	2	4	2	1	1	2	2	1	3	3			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:25121477T>C	ENST00000332271.5	-	17	2458	c.2042A>G	c.(2041-2043)tAc>tGc	p.Y681C	PIWIL3_ENST00000527701.1_Missense_Mutation_p.Y563C|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Y563C	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	681	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACATTGAGAGTACCACCTGTT	0.413													36	61					0	0	0	0	C	25121477	T	C	25121477	3	2	465	1	0	0	0	0	1	0	0	0	12031	1638	57	5	626	5	PIWIL3	22	25121477	Missense_Mutation	SNP	T	TCGA-P3-A6T3-01A-11D-A34J-08	3322173	25121477	26183089	126	90220											
GGA1	26088	broad.mit.edu	37	chr22	38027078	38027078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctctcactggccagcatCactgtgcccctggagtccat	7	9	10	15	0	2	0	2	0	1	0	4	2	3	1	4	2	3	2	4	2	0	0			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:38027078C>G	ENST00000406772.1	+	15	1933	c.1281C>G	c.(1279-1281)atC>atG	p.I427M	GGA1_ENST00000381756.5_Missense_Mutation_p.I517M|GGA1_ENST00000343632.4_Missense_Mutation_p.I500M|GGA1_ENST00000337437.4_Missense_Mutation_p.I467M|GGA1_ENST00000325180.8_Missense_Mutation_p.I413M	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	500	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGGCCAGCATCACTGTGCCCC	0.667													20	103					0	0	0	0	G	38027078	C	G	38027078	3	3	465	1	0	0	0	0	1	0	0	0	6403	816	29	2	1620	2	GGA1	22	38027078	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	12905601	38027078	13277488	127	90221											
GCAT	23464	broad.mit.edu	37	chr22	38211742	38211742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggccatacctcttctccaAcagtctgccacctgctgtcg	6	10	7	18	2	3	0	0	0	3	0	5	0	3	0	6	1	4	1	6	1	2	2			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:38211742A>G	ENST00000323205.6	+	7	1028	c.965A>G	c.(964-966)aAc>aGc	p.N322S	GCAT_ENST00000248924.6_Missense_Mutation_p.N296S	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	296					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTCTTCTCCAACAGTCTGCCA	0.637													32	189					0	0	0	0	G	38211742	A	G	38211742	3	3	465	1	0	0	0	0	1	0	0	0	6333	43	2	5	991	5	GCAT	22	38211742	Missense_Mutation	SNP	A	TCGA-P3-A6T3-01A-11D-A34J-08	184664	38211742	13092824	128	90222											
ACO2	50	broad.mit.edu	37	chr22	41918852	41918852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtctaattggtagctgcaCcaattcaagctatgaagata	14	11	9	7	0	2	2	1	1	1	1	2	2	2	2	1	2	3	4	1	2	7	6			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:41918852C>T	ENST00000396512.3	+	10	1249	c.1232C>T	c.(1231-1233)aCc>aTc	p.T411I	ACO2_ENST00000216254.4_Missense_Mutation_p.T386I			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	386					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GGTAGCTGCACCAATTCAAGC	0.542													7	48					0	0	0	0	T	41918852	C	T	41918852	3	4	465	1	0	0	0	0	1	0	0	0	147	507	18	4	1195	4	ACO2	22	41918852	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08	3707110	41918852	9385714	129	90223											
MAP3K15	389840	broad.mit.edu	37	chrX	19410511	19410511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgaagatacttaaggccctCcaggatctgtttggtgtaaa	12	12	10	7	0	1	2	0	1	1	1	2	3	2	3	2	3	1	2	2	3	5	4			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chrX:19410511C>G	ENST00000338883.4	-	17	2274	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E591Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E194Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	759	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTAAGGCCCTCCAGGATCTGT	0.453													50	137					0	0	0	0	G	19410511	C	G	19410511	3	3	465	1	0	0	0	0	1	0	0	0	9318	864	30	2	1718	2	MAP3K15	23	19410511	Missense_Mutation	SNP	C	TCGA-P3-A6T3-01A-11D-A34J-08		19410511	135860049	130	90224											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837499	12837499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgccacaccgtcgggctGagcaagctaagcctggagct	8	6	13	14	3	0	1	0	1	0	0	1	2	0	2	3	2	5	4	3	2	2	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:12837499G>A	ENST00000357726.4	+	3	1236	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	403										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTCGGGCTGAGCAAGCTAA	0.607													44	169					0	0	0	0	A	12837499	G	A	12837499	2	1	466	1	0	0	0	0	0	0	0	1	12504	1277	45	2		2	PRAMEF12	1	12837499	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		12837499	236413122	1	90225											
ZMYM1	79830	broad.mit.edu	37	chr1	35559686	35559686	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacccgacaatgctcaagTaaatattttcccttatttcc	13	13	4	11	1	1	1	1	0	0	1	3	2	3	1	3	0	2	2	3	0	7	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:35559686T>G	ENST00000373330.1	+	3	270		c.e3+2		ZMYM1_ENST00000373329.1_Intron|ZMYM1_ENST00000359858.4_Splice_Site			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1							nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGCTCAAGTAAATATTTTC	0.358													7	47					0	0	0	0	G	35559686	T	G	35559686	5	3	466	1	0	0	0	0	0	0	1	0	17794	1652	57	5	100	5	ZMYM1	1	35559686	Splice_Site	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	22722187	35559686	213690935	2	90226											
KCNQ4	9132	broad.mit.edu	37	chr1	41303341	41303341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttcccttacccttagggtgGaccaaattgtgggtcggggg	6	11	15	9	1	0	0	0	0	0	0	2	1	1	1	3	5	1	1	3	5	3	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:41303341G>A	ENST00000347132.5	+	13	1832	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.D530N	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	584	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCTTAGGGTGGACCAAATTGT	0.622													5	21					0	0	0	0	A	41303341	G	A	41303341	3	1	466	1	0	0	0	0	1	0	0	0	8138	1174	41	2	1800	2	KCNQ4	1	41303341	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	5743655	41303341	207947280	3	90227											
PTGFRN	5738	broad.mit.edu	37	chr1	117487663	117487663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgagcagggcaactggcagGaaatccaagaaaaggccgtg	14	3	14	10	2	0	1	0	0	0	1	1	3	1	2	3	4	2	3	3	4	5	0			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:117487663G>A	ENST00000393203.2	+	3	928	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	261	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAACTGGCAGGAAATCCAAGA	0.562													7	34					0	0	0	0	A	117487663	G	A	117487663	3	1	466	1	0	0	0	0	1	0	0	0	12830	1175	41	2	791	2	PTGFRN	1	117487663	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	76184322	117487663	131762958	4	90228											
PDE4DIP	9659	broad.mit.edu	37	chr1	144931530	144931530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcgaatcgatagattCgatcaagcatgaaagcacac	14	9	9	9	3	1	2	1	1	0	1	4	5	1	2	0	0	2	2	0	0	4	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:144931530C>A	ENST00000529945.1	-	1	618	c.179G>T	c.(178-180)cGa>cTa	p.R60L	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R60L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGATAGATTCGATCAAGCAT	0.507			T	PDGFRB	MPD								17	126					3.52763e-06	3.67462e-06	1	0	A	144931530	C	A	144931530	3	1	466	1	0	0	0	0	1	0	0	0	11714	884	31	3	7520	3	PDE4DIP	1	144931530	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	27443867	144931530	104319091	5	90229											
RPRD2	23248	broad.mit.edu	37	chr1	150432681	150432681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctcttccaaagcctgtGaatacttctctttccccttc	7	14	3	17	0	2	1	0	1	2	0	6	1	4	1	6	0	2	0	6	0	3	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:150432681G>A	ENST00000401000.4	+	8	1286	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.V433V|RPRD2_ENST00000539519.1_Silent_p.V407V			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	433							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAAGCCTGTGAATACTTCTC	0.468													7	45					0	0	0	0	A	150432681	G	A	150432681	2	1	466	1	0	0	0	0	0	0	0	1	13702	1277	45	2		2	RPRD2	1	150432681	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	5501151	150432681	98817940	6	90230											
FLG	2312	broad.mit.edu	37	chr1	152282048	152282048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcggactcagactgttcatGagtgctcacctggtagagga	9	9	14	9	1	3	3	3	1	0	2	3	5	3	5	1	4	1	3	1	4	1	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152282048G>C	ENST00000368799.1	-	3	5349	c.5314C>G	c.(5314-5316)Cat>Gat	p.H1772D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1772	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTTCATGAGTGCTCACC	0.612									Ichthyosis				63	434					0	0	0	0	C	152282048	G	C	152282048	3	2	466	1	0	0	0	0	1	0	0	0	5967	1290	45	2	6875	2	FLG	1	152282048	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	1849367	152282048	96968573	7	90231											
FLG	2312	broad.mit.edu	37	chr1	152282445	152282445	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgcccatgactggctctAtcttcttgatgggacctggg	6	12	13	10	0	3	2	0	2	3	0	3	4	3	3	2	3	1	1	2	3	1	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152282445A>G	ENST00000368799.1	-	3	4952	c.4917T>C	c.(4915-4917)gaT>gaC	p.D1639D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1639	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGGCTCTATCTTCTTGAT	0.557									Ichthyosis				175	382					0	0	0	0	G	152282445	A	G	152282445	2	3	466	1	0	0	0	0	0	0	0	1	5967	446	16	5		5	FLG	1	152282445	Silent	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	397	152282445	96968176	8	90232											
FLG2	388698	broad.mit.edu	37	chr1	152328285	152328285	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactgacctgagcctgaTccatattggccaaagccagt	11	8	11	11	0	0	3	0	3	0	0	1	5	1	4	5	2	2	0	5	2	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152328285T>A	ENST00000388718.5	-	3	2049	c.1977A>T	c.(1975-1977)ggA>ggT	p.G659G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	659	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCCTGATCCATATTGGC	0.493													44	586					0	0	0	0	A	152328285	T	A	152328285	2	1	466	1	0	0	0	0	0	0	0	1	5968	1422	50	5		5	FLG2	1	152328285	Silent	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	45840	152328285	96922336	9	90233											
S100A12	6283	broad.mit.edu	37	chr1	153347014	153347014	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgccccttccgaactgAgtattggtggaagatattga	13	11	10	7	1	0	3	0	2	0	1	1	5	1	4	3	2	2	1	3	2	6	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:153347014A>T	ENST00000368737.3	-	2	172	c.55T>A	c.(55-57)Tca>Aca	p.S19T		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	19	EF-hand 1.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TTCCGAACTGAGTATTGGTGG	0.463													76	148					0	0	0	0	T	153347014	A	T	153347014	3	4	466	1	0	0	0	0	1	0	0	0	13859	304	11	5	231	5	S100A12	1	153347014	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	1018729	153347014	95903607	10	90234											
DENND4B	9909	broad.mit.edu	37	chr1	153907336	153907336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgctgttgccgttctctCaagggctggcggaactgagc	5	11	14	11	2	2	1	1	1	1	0	3	2	2	2	1	3	5	5	1	3	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:153907336C>G	ENST00000361217.4	-	18	3091	c.2673G>C	c.(2671-2673)ttG>ttC	p.L891F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	891	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gcCGTTCTCTCAAGGGCTGGC	0.632													6	135					0	0	0	0	G	153907336	C	G	153907336	3	3	466	1	0	0	0	0	1	0	0	0	4471	825	29	2	1861	2	DENND4B	1	153907336	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	560322	153907336	95343285	11	90235											
IFI16	3428	broad.mit.edu	37	chr1	158985713	158985713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggaagtggatgctacttCacctgcaccctccacaagca	12	7	9	13	0	1	0	1	0	0	0	2	3	2	2	3	2	4	3	3	2	4	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:158985713C>T	ENST00000295809.7	+	3	572	c.317C>T	c.(316-318)tCa>tTa	p.S106L	IFI16_ENST00000359709.3_Missense_Mutation_p.S106L|IFI16_ENST00000340979.6_Missense_Mutation_p.S106L|IFI16_ENST00000368132.3_Missense_Mutation_p.S106L|IFI16_ENST00000368131.4_Missense_Mutation_p.S106L|IFI16_ENST00000430894.2_Missense_Mutation_p.S110L|IFI16_ENST00000448393.2_Missense_Mutation_p.S106L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	106	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GATGCTACTTCACCTGCACCC	0.473													6	64					0	0	0	0	T	158985713	C	T	158985713	3	4	466	1	0	0	0	0	1	0	0	0	7564	838	29	2	323	2	IFI16	1	158985713	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	5078377	158985713	90264908	12	90236											
TNN	63923	broad.mit.edu	37	chr1	175105985	175105985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctacacaacctcaccacCggcactccagcgcggtatga	12	5	8	16	3	1	1	1	1	0	0	2	1	2	1	4	2	4	3	4	2	4	2	rs144928544	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:175105985C>T	ENST00000239462.4	+	17	3569	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1152	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCTCACCACCGGCACTCCAG	0.453													11	91					0	0	0	0	T	175105985	C	T	175105985	2	4	466	1	0	0	0	0	0	0	0	1	16417	639	23	1		1	TNN	1	175105985	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	16120272	175105985	74144636	13	90237											
KCNT2	343450	broad.mit.edu	37	chr1	196251476	196251476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatagaaatcatataatccTtcacaaatgactgcaatata	18	12	4	7	0	2	3	2	2	0	1	3	3	3	3	1	0	1	1	1	0	8	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:196251476T>A	ENST00000367433.5	-	23	2737	c.2636A>T	c.(2635-2637)aAg>aTg	p.K879M	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.K829M|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.K903M			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	903						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATATAATCCTTCACAAATGA	0.313													12	55					0	0	0	0	A	196251476	T	A	196251476	3	1	466	1	0	0	0	0	1	0	0	0	8145	1609	56	5	719	5	KCNT2	1	196251476	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	21145491	196251476	52999145	14	90238											
KCNT2	343450	broad.mit.edu	37	chr1	196367733	196367733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattttcaggctttaatatCtggacatacaaaggacaatt	14	15	6	6	0	2	0	1	0	1	0	2	2	2	2	0	3	1	1	0	3	6	8			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:196367733C>G	ENST00000367433.5	-	13	1355	c.1254G>C	c.(1252-1254)caG>caC	p.Q418H	KCNT2_ENST00000451324.2_Missense_Mutation_p.Q29H|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q418H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.Q418H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	418						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTTTAATATCTGGACATACA	0.338													9	66					0	0	0	0	G	196367733	C	G	196367733	3	3	466	1	0	0	0	0	1	0	0	0	8145	912	32	2	2217	2	KCNT2	1	196367733	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	116257	196367733	52882888	15	90239											
C1orf53	388722	broad.mit.edu	37	chr1	197874930	197874930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttattgcacttcaggctgGccagctaaactatgtggatc	9	14	9	9	0	1	0	1	0	0	0	2	1	1	1	1	3	3	3	1	3	4	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:197874930G>A	ENST00000367393.3	+	2	272	c.269G>A	c.(268-270)gGc>gAc	p.G90D	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	90								p.G90D(2)		endometrium(1)|lung(1)	2						CTTCAGGCTGGCCAGCTAAAC	0.398													5	164					0	0	0	0	A	197874930	G	A	197874930	3	1	466	1	0	0	0	0	1	0	0	0	2065	1203	42	4	275	4	C1orf53	1	197874930	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	1507197	197874930	51375691	16	90240											
GOLT1A	127845	broad.mit.edu	37	chr1	204170800	204170800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtaggtttccaggaacatgCcgaggaggggccagcgtagg	9	6	17	9	3	0	0	0	0	0	0	1	3	1	2	3	6	3	3	3	6	3	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:204170800C>T	ENST00000308302.3	-	3	442	c.257G>A	c.(256-258)gGc>gAc	p.G86D	GOLT1A_ENST00000475517.1_5'UTR	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	86					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CAGGAACATGCCGAGGAGGGG	0.527													4	126					0	0	0	0	T	204170800	C	T	204170800	3	4	466	1	0	0	0	0	1	0	0	0	6618	739	26	4	153	4	GOLT1A	1	204170800	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	6295870	204170800	45079821	17	90241											
USH2A	7399	broad.mit.edu	37	chr1	215901581	215901581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttaatgaccacagacTctccactgaacccttggagt	10	12	8	11	0	1	3	0	2	1	1	2	4	1	4	3	1	1	1	3	1	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:215901581T>A	ENST00000366943.2	-	61	12243	c.11857A>T	c.(11857-11859)Agt>Tgt	p.S3953C	USH2A_ENST00000307340.3_Missense_Mutation_p.S3953C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3953	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACCACAGACTCTCCACTGAA	0.488										HNSCC(13;0.011)			23	88					0	0	0	0	A	215901581	T	A	215901581	3	1	466	1	0	0	0	0	1	0	0	0	17132	1551	54	5	3799	5	USH2A	1	215901581	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	11730781	215901581	33349040	18	90242											
TLR5	7100	broad.mit.edu	37	chr1	223284667	223284667	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatccaagacactaagtgaTacaaatacatcaggattagg	18	9	7	7	0	1	2	1	1	0	1	2	3	2	3	1	2	2	0	1	2	7	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:223284667T>C	ENST00000540964.1	-	4	2168	c.1707A>G	c.(1705-1707)gtA>gtG	p.V569V	TLR5_ENST00000342210.6_Silent_p.V569V			O60602	TLR5_HUMAN	toll-like receptor 5	569			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CACTAAGTGATACAAATACAT	0.378													23	92					0	0	0	0	C	223284667	T	C	223284667	2	2	466	1	0	0	0	0	0	0	0	1	16048	1393	49	5		5	TLR5	1	223284667	Silent	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	7383086	223284667	25965954	19	90243											
PSEN2	5664	broad.mit.edu	37	chr1	227079502	227079502	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagtctttgagcctccCttgactggctacccagggga	7	9	11	14	1	1	2	0	2	1	0	2	4	2	3	4	3	2	1	4	3	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:227079502C>G	ENST00000366782.1	+	11	1628	c.1128C>G	c.(1126-1128)ccC>ccG	p.P376P	PSEN2_ENST00000422240.2_Silent_p.P342P|PSEN2_ENST00000391872.2_Silent_p.P376P|PSEN2_ENST00000366783.3_Silent_p.P343P|PSEN2_ENST00000340188.4_Silent_p.P310P|PSEN2_ENST00000472139.2_Silent_p.P199P|PSEN2_ENST00000471728.1_3'UTR			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	343					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TTGAGCCTCCCTTGACTGGCT	0.572													31	63					0	0	0	0	G	227079502	C	G	227079502	2	3	466	1	0	0	0	0	0	0	0	1	12730	668	24	4		4	PSEN2	1	227079502	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	3794835	227079502	22171119	20	90244											
RBM34	23029	broad.mit.edu	37	chr1	235295103	235295103	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgttttaaggagaacagcTttttctccaataaataagct	13	15	6	7	1	1	1	0	0	1	1	3	2	1	1	1	1	3	3	1	1	6	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:235295103T>C	ENST00000408888.3	-	11	1448	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	RBM34_ENST00000366606.3_Silent_p.K401K|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	406						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GGAGAACAGCTTTTTCTCCAA	0.368													35	136					0	0	0	0	C	235295103	T	C	235295103	2	2	466	1	0	0	0	0	0	0	0	1	13213	1606	56	5		5	RBM34	1	235295103	Silent	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	8215601	235295103	13955518	21	90245											
APOB	338	broad.mit.edu	37	chr2	21232377	21232377	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtggtagttccagagcctGaatttcaccattgagtctct	8	15	9	9	0	2	3	1	2	1	1	4	3	3	3	3	1	1	2	3	1	2	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:21232377G>A	ENST00000233242.1	-	26	7490	c.7363C>T	c.(7363-7365)Cag>Tag	p.Q2455*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2455					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCAGAGCCTGAATTTCACCA	0.398													50	234					0	0	0	0	A	21232377	G	A	21232377	4	1	466	1	0	0	0	0	0	1	0	0	787	1299	45	2	6344	2	APOB	2	21232377	Nonsense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		21232377	221966996	22	90246											
ZNF512	84450	broad.mit.edu	37	chr2	27840415	27840415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagagtggtgtcaagtatCacatcaactccgtccatgct	11	10	9	11	1	3	1	3	0	0	1	5	2	5	1	2	1	2	2	2	1	3	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:27840415C>T	ENST00000355467.4	+	13	1455	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ZNF512_ENST00000556601.1_Missense_Mutation_p.H327Y|ZNF512_ENST00000416005.2_Missense_Mutation_p.H429Y|ZNF512_ENST00000413371.2_Missense_Mutation_p.H381Y|ZNF512_ENST00000379717.1_Missense_Mutation_p.H457Y|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TGTCAAGTATCACATCAACTC	0.403													16	89					0	0	0	0	T	27840415	C	T	27840415	3	4	466	1	0	0	0	0	1	0	0	0	18051	826	29	2	1422	2	ZNF512	2	27840415	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	6608038	27840415	215358958	23	90247											
ZC3H6	376940	broad.mit.edu	37	chr2	113082071	113082071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctttccaggacatgtgatGaaagtacccagagagaatca	14	8	11	8	0	1	4	1	2	0	2	2	6	2	5	2	2	1	2	2	2	3	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:113082071G>A	ENST00000409871.1	+	10	2084	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	ZC3H6_ENST00000343936.4_Missense_Mutation_p.M561I	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	561							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GACATGTGATGAAAGTACCCA	0.483													10	28					0	0	0	0	A	113082071	G	A	113082071	3	1	466	1	0	0	0	0	1	0	0	0	17666	1290	45	2	1721	2	ZC3H6	2	113082071	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	85241656	113082071	130117302	24	90248											
MGAT5	4249	broad.mit.edu	37	chr2	135095868	135095868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatattctctacagtatGatgaaaaagcatgaagaatt	17	14	6	4	0	1	4	0	3	1	1	2	4	1	4	0	0	2	2	0	0	8	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:135095868G>T	ENST00000409645.1	+	7	936	c.684G>T	c.(682-684)atG>atT	p.M228I	MGAT5_ENST00000281923.2_Missense_Mutation_p.M228I			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	228					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCTACAGTATGATGAAAAAGC	0.388													40	81					4.67007e-22	5.02758e-22	1	0	T	135095868	G	T	135095868	3	4	466	1	0	0	0	0	1	0	0	0	9617	1290	45	2	706	2	MGAT5	2	135095868	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	22013797	135095868	108103505	25	90249											
NEB	4703	broad.mit.edu	37	chr2	152423811	152423811	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccctgcttggcggccaaGactgacaccatatcagcagg	9	7	11	14	1	1	2	1	1	0	1	1	2	1	2	4	3	3	2	4	3	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:152423811G>C	ENST00000427231.2	-	114	18229	c.18027C>G	c.(18025-18027)gtC>gtG	p.V6009V	NEB_ENST00000172853.10_Silent_p.V4308V|NEB_ENST00000409198.1_Silent_p.V4308V|NEB_ENST00000397345.3_Silent_p.V6009V|NEB_ENST00000603639.1_Silent_p.V6009V|NEB_ENST00000604864.1_Silent_p.V6009V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6026					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCGGCCAAGACTGACACCA	0.443													16	79					0	0	0	0	C	152423811	G	C	152423811	2	2	466	1	0	0	0	0	0	0	0	1	10372	929	33	2		2	NEB	2	152423811	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	17327943	152423811	90775562	26	90250											
NEB	4703	broad.mit.edu	37	chr2	152496975	152496975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtccacatcgctgactaagGtctggcacttcttggccagc	8	10	10	13	1	2	1	0	1	2	0	4	1	3	1	2	3	1	2	2	3	1	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:152496975G>A	ENST00000427231.2	-	61	8781	c.8579C>T	c.(8578-8580)aCc>aTc	p.T2860I	NEB_ENST00000172853.10_Missense_Mutation_p.T2860I|NEB_ENST00000409198.1_Missense_Mutation_p.T2860I|NEB_ENST00000397345.3_Missense_Mutation_p.T2860I|NEB_ENST00000603639.1_Missense_Mutation_p.T2860I|NEB_ENST00000604864.1_Missense_Mutation_p.T2860I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2860					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTGACTAAGGTCTGGCACTT	0.567													6	399					0	0	0	0	A	152496975	G	A	152496975	3	1	466	1	0	0	0	0	1	0	0	0	10372	1261	44	4	17595	4	NEB	2	152496975	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	73164	152496975	90702398	27	90251											
NFE2L2	4780	broad.mit.edu	37	chr2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcgacttactccaagatCtatatcttgcctccaaagta	11	14	4	12	1	3	1	0	0	3	1	6	2	5	1	3	0	2	1	3	0	6	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			25	70					0	0	0	0	G	178098960	C	G	178098960	3	3	466	1	0	0	0	0	1	0	0	0	10438	913	32	2	1748	2	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	25601985	178098960	65100413	28	90252											
TTN	7273	broad.mit.edu	37	chr2	179589210	179589210	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttacactccagagtgcaCgtttctcctacagtcaccgt	9	11	6	15	2	2	1	1	0	1	1	4	1	3	1	4	0	3	2	4	0	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:179589210C>G	ENST00000589042.1	-	72	21116	c.20892G>C	c.(20890-20892)acG>acC	p.T6964T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T5720T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Silent_p.T6647T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6647	Ig-like 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAGTGCACGTTTCTCCTA	0.473													12	46					0	0	0	0	G	179589210	C	G	179589210	2	3	466	1	0	0	0	0	0	0	0	1	16831	523	19	3		3	TTN	2	179589210	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	1490250	179589210	63610163	29	90253											
PGAP1	80055	broad.mit.edu	37	chr2	197708751	197708751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatggtgtattgaggagtCtttatgatgattggatttct	10	17	12	2	0	2	4	0	3	2	1	2	6	2	6	0	3	0	1	0	3	3	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:197708751C>G	ENST00000354764.3	-	25	2500	c.2386G>C	c.(2386-2388)Gac>Cac	p.D796H		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	796					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATTGAGGAGTCTTTATGATGA	0.333													11	59					0	0	0	0	G	197708751	C	G	197708751	3	3	466	1	0	0	0	0	1	0	0	0	11849	913	32	2	394	2	PGAP1	2	197708751	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	18119541	197708751	45490622	30	90254											
WDR12	55759	broad.mit.edu	37	chr2	203748997	203748997	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtttacaaagtggagaataGgaaatacaattaaacacttt	18	11	7	5	1	0	1	0	0	0	1	0	3	0	2	0	2	3	1	0	2	9	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:203748997G>A	ENST00000261015.3	-	10	1661	c.912C>T	c.(910-912)tcC>tcT	p.S304S		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	304	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GTGGAGAATAGGAAATACAAT	0.373													21	55					0	0	0	0	A	203748997	G	A	203748997	2	1	466	1	0	0	0	0	0	0	0	1	17370	987	35	4		4	WDR12	2	203748997	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	6040246	203748997	39450376	31	90255											
ALPPL2	251	broad.mit.edu	37	chr2	233271635	233271635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgggtgctgctcctgctgGgcctgaggctacagctctcc	3	10	13	15	0	1	1	0	1	1	0	3	1	2	1	4	3	5	5	4	3	1	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:233271635G>C	ENST00000295453.3	+	1	83	c.31G>C	c.(31-33)Ggc>Cgc	p.G11R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	11					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTCCTGCTGGGCCTGAGGCT	0.647													12	71					0	0	0	0	C	233271635	G	C	233271635	3	2	466	1	0	0	0	0	1	0	0	0	549	1232	43	4	33	4	ALPPL2	2	233271635	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	29522638	233271635	9927738	32	90256											
RBM44	375316	broad.mit.edu	37	chr2	238727099	238727099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctgatgaatggcaaaatGagaaacaaaaaagtgtggct	18	7	11	5	0	0	3	0	3	0	1	0	5	0	3	1	2	1	2	1	2	7	0			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:238727099G>A	ENST00000316997.4	+	3	1672	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.E514K	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	513							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATGGCAAAATGAGAAACAAAA	0.378													9	57					0	0	0	0	A	238727099	G	A	238727099	3	1	466	1	0	0	0	0	1	0	0	0	13220	1291	45	2	1546	2	RBM44	2	238727099	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	5455464	238727099	4472274	33	90257											
AQP12A	375318	broad.mit.edu	37	chr2	241631601	241631601	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcaccttggacggggcCtcggccaaccccactgtgtc	5	7	14	15	2	1	0	1	0	0	0	3	1	1	1	5	6	1	0	5	6	1	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:241631601C>A	ENST00000429564.1	+	2	333	c.270C>A	c.(268-270)gcC>gcA	p.A90A	AQP12A_ENST00000337801.4_Silent_p.A78A			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	78						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGGACGGGGCCTCGGCCAACC	0.677													16	67					1.01871e-10	1.07108e-10	1	0	A	241631601	C	A	241631601	2	1	466	1	0	0	0	0	0	0	0	1	826	668	24	4		4	AQP12A	2	241631601	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	2904502	241631601	1567772	34	90258											
ITIH4	3700	broad.mit.edu	37	chr3	52858522	52858522	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttctgtactgaagacgatGaggttgaactggtctctggg	8	12	14	7	1	2	4	0	3	2	1	3	5	2	4	0	3	2	3	0	3	3	3	rs917693		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:52858522G>C	ENST00000266041.4	-	8	1032	c.936C>G	c.(934-936)ctC>ctG	p.L312L	ITIH4_ENST00000406595.1_Silent_p.L312L|ITIH4_ENST00000346281.5_Silent_p.L312L|ITIH4_ENST00000434759.3_Silent_p.L224L|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Silent_p.L312L	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	312	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGAAGACGATGAGGTTGAACT	0.572													17	89					0	0	0	0	C	52858522	G	C	52858522	2	2	466	1	0	0	0	0	0	0	0	1	7959	1277	45	2		2	ITIH4	3	52858522	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		52858522	145163908	35	90259											
OR5K3	403277	broad.mit.edu	37	chr3	98109749	98109749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctgctattactcccaaGatgttagagaacttcttttc	9	16	5	11	0	2	2	0	0	2	2	5	3	4	2	2	0	3	2	2	0	5	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:98109749G>A	ENST00000383695.1	+	1	240	c.240G>A	c.(238-240)aaG>aaA	p.K80K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTACTCCCAAGATGTTAGAGA	0.378													63	463					0	0	0	0	A	98109749	G	A	98109749	2	1	466	1	0	0	0	0	0	0	0	1	11239	933	33	2		2	OR5K3	3	98109749	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	45251227	98109749	99912681	36	90260											
NDUFB4	4710	broad.mit.edu	37	chr3	120320071	120320071	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggatttgggcccctCatcttcatttattatattat	7	19	7	8	0	3	0	2	0	1	0	3	1	3	1	2	2	0	0	2	2	4	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:120320071C>A	ENST00000485064.1	+	2	326	c.294C>A	c.(292-294)ctC>ctA	p.L98L	NDUFB4_ENST00000492739.1_Intron|NDUFB4_ENST00000184266.2_Silent_p.L98L	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	98					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TTGGGCCCCTCATCTTCATTT	0.413													140	340					3.45299e-71	3.78987e-71	1	0	A	120320071	C	A	120320071	2	1	466	1	0	0	0	0	0	0	0	1	10353	813	29	2		2	NDUFB4	3	120320071	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	22210322	120320071	77702359	37	90261											
CCDC14	64770	broad.mit.edu	37	chr3	123652563	123652563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagatggtttttgagttttCtgttgttctctgagttgctg	4	20	11	6	0	2	3	0	2	2	1	3	3	2	3	1	1	1	6	1	1	0	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:123652563C>G	ENST00000485727.1	-	6	5519	c.927G>C	c.(925-927)caG>caC	p.Q309H	CCDC14_ENST00000488653.2_Missense_Mutation_p.Q509H|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.Q309H|CCDC14_ENST00000310351.4_Missense_Mutation_p.Q349H|CCDC14_ENST00000433542.2_Missense_Mutation_p.Q468H			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	509						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTTGAGTTTTCTGTTGTTCTC	0.348													4	26					0	0	0	0	G	123652563	C	G	123652563	3	3	466	1	0	0	0	0	1	0	0	0	2798	912	32	2	1350	2	CCDC14	3	123652563	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	3332492	123652563	74369867	38	90262											
NLGN1	22871	broad.mit.edu	37	chr3	173998628	173998628	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtccattttcagtggatcaAagggactactcaacagagct	13	10	9	9	0	3	1	3	0	0	1	4	3	4	3	1	2	3	1	1	2	3	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:173998628A>C	ENST00000457714.1	+	7	2436	c.2007A>C	c.(2005-2007)caA>caC	p.Q669H	NLGN1_ENST00000361589.4_Missense_Mutation_p.Q669H|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q709H|NLGN1_ENST00000545397.1_Missense_Mutation_p.Q669H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	686					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGTGGATCAAAGGGACTACT	0.458													10	162					0	0	0	0	C	173998628	A	C	173998628	3	2	466	1	0	0	0	0	1	0	0	0	10531	11	1	5	2025	5	NLGN1	3	173998628	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	50346065	173998628	24023802	39	90263											
DNAJB11	51726	broad.mit.edu	37	chr3	186302363	186302363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaaaagaacagttaacaGaggaagcgagagaaggtatg	18	6	12	5	1	0	3	0	0	0	3	1	6	1	4	1	2	3	2	1	2	7	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:186302363G>A	ENST00000439351.1	+	10	1926	c.997G>A	c.(997-999)Gag>Aag	p.E333K	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E333K			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	333					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		ACAGTTAACAGAGGAAGCGAG	0.413													5	150					0	0	0	0	A	186302363	G	A	186302363	3	1	466	1	0	0	0	0	1	0	0	0	4652	943	33	2	1031	2	DNAJB11	3	186302363	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	12303735	186302363	11720067	40	90264											
CCDC50	152137	broad.mit.edu	37	chr3	191098615	191098615	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgactgtattttgtttAggaaatcgctcgacttctaa	11	17	7	6	2	1	1	0	1	1	0	3	3	1	2	0	1	0	3	0	1	5	9			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:191098615A>C	ENST00000392455.3	+	8	1207		c.e8-1		CCDC50_ENST00000392456.3_Splice_Site	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TATTTTGTTTAGGAAATCGCT	0.368													12	82					0	0	0	0	C	191098615	A	C	191098615	5	2	466	1	0	0	0	0	0	0	1	0	2847	434	15	5	1170	5	CCDC50	3	191098615	Splice_Site	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	4796252	191098615	6923815	41	90265											
ATP13A4	84239	broad.mit.edu	37	chr3	193132398	193132398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggaataccaaggctgcCtctgaaccaggatgaagcct	12	6	10	13	1	1	2	0	2	1	0	1	4	1	4	5	3	4	1	5	3	5	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:193132398C>G	ENST00000342695.4	-	26	3306	c.2984G>C	c.(2983-2985)aGg>aCg	p.R995T	ATP13A4_ENST00000400270.2_Missense_Mutation_p.R11T|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R976T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	995					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAGGCTGCCTCTGAACCAG	0.468													17	101					0	0	0	0	G	193132398	C	G	193132398	3	3	466	1	0	0	0	0	1	0	0	0	1130	681	24	4	626	4	ATP13A4	3	193132398	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	2033783	193132398	4890032	42	90266											
TXK	7294	broad.mit.edu	37	chr4	48081953	48081953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccctatgaatatagccattCctctccagatattccattcc	10	14	3	14	0	1	2	0	1	1	1	6	2	5	2	6	0	1	0	6	0	5	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:48081953C>T	ENST00000264316.4	-	11	1234	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	TXK_ENST00000507351.1_Silent_p.R38R	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	383	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TATAGCCATTCCTCTCCAGAT	0.353													24	99					0	0	0	0	T	48081953	C	T	48081953	2	4	466	1	0	0	0	0	0	0	0	1	16882	854	30	2		2	TXK	4	48081953	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08		48081953	143072323	43	90267											
SPINK2	6691	broad.mit.edu	37	chr4	57686742	57686742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccaaattgagggatcagaGaggctgtaagaagaaagcat	17	6	13	5	0	1	4	1	1	0	3	1	7	1	5	1	2	1	3	1	2	4	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:57686742G>C	ENST00000506738.1	-	2	288	c.209C>G	c.(208-210)tCt>tGt	p.S70C	SPINK2_ENST00000504762.1_Missense_Mutation_p.S55C|SPINK2_ENST00000248701.4_Missense_Mutation_p.S20C	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	20	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					AGGGATCAGAGAGGCTGTAAG	0.348													11	58					0	0	0	0	C	57686742	G	C	57686742	3	2	466	1	0	0	0	0	1	0	0	0	15150	942	33	2	207	2	SPINK2	4	57686742	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	9604789	57686742	133467534	44	90268											
SULT1E1	6783	broad.mit.edu	37	chr4	70707744	70707744	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgaaacttcagtgtagattCcttcatttgctgctcataat	10	16	6	9	1	3	1	3	0	0	1	5	2	4	1	1	0	3	3	1	0	3	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:70707744C>A	ENST00000226444.3	-	8	965	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	285					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AGTGTAGATTCCTTCATTTGC	0.308													27	39					2.44723e-14	2.60961e-14	1	0	A	70707744	C	A	70707744	4	1	466	1	0	0	0	0	0	1	0	0	15470	864	30	2	35	2	SULT1E1	4	70707744	Nonsense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	13021002	70707744	120446532	45	90269											
AFF1	4299	broad.mit.edu	37	chr4	88046198	88046198	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtaatagggtgaagcaGaaagagactgtgataacaag	17	8	12	4	0	0	4	0	2	0	2	0	5	0	4	0	1	3	2	0	1	7	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:88046198G>T	ENST00000307808.6	+	12	2875	c.2455G>T	c.(2455-2457)Gaa>Taa	p.E819*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.E826*|AFF1_ENST00000544085.1_Nonsense_Mutation_p.E457*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	819						nucleus	sequence-specific DNA binding transcription factor activity			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)		GGGTGAAGCAGAAAGAGACTG	0.338													9	47					0.000442599	0.000452658	1	0	T	88046198	G	T	88046198	4	4	466	1	0	0	0	0	0	1	0	0	356	943	33	2	2543	2	AFF1	4	88046198	Nonsense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	17338454	88046198	103108078	46	90270											
C4orf32	132720	broad.mit.edu	37	chr4	113107862	113107862	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaaggatgttgaagactCacagaaccacactggtgagc	14	9	10	8	0	1	4	1	2	0	2	1	5	1	5	1	2	2	1	1	2	4	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:113107862C>G	ENST00000309733.4	+	2	351	c.167C>G	c.(166-168)tCa>tGa	p.S56*		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	56						integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		GTTGAAGACTCACAGAACCAC	0.358													54	101					0	0	0	0	G	113107862	C	G	113107862	4	3	466	1	0	0	0	0	0	1	0	0	2283	838	29	2	173	2	C4orf32	4	113107862	Nonsense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	25061664	113107862	78046414	47	90271											
FAT4	79633	broad.mit.edu	37	chr4	126369631	126369631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataggttcctttgtctttgCggttacagtcacagatgctg	7	16	10	8	1	2	1	1	0	1	1	3	1	3	1	1	2	3	3	1	2	3	6	rs144853732		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:126369631C>T	ENST00000394329.3	+	9	7473	c.7460C>T	c.(7459-7461)gCg>gTg	p.A2487V	FAT4_ENST00000335110.5_Missense_Mutation_p.A785V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTGTCTTTGCGGTTACAGTC	0.363													6	281					0	0	0	0	T	126369631	C	T	126369631	3	4	466	1	0	0	0	0	1	0	0	0	5737	768	27	1	7494	1	FAT4	4	126369631	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	13261769	126369631	64784645	48	90272											
TMEM192	201931	broad.mit.edu	37	chr4	166021940	166021940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccaaggattataaccgtCtgaactttcaatgggtttgt	10	15	8	8	1	2	1	1	1	1	0	3	2	3	2	2	2	2	1	2	2	5	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:166021940C>G	ENST00000306480.5	-	3	424	c.279G>C	c.(277-279)caG>caC	p.Q93H	TMEM192_ENST00000506087.1_Missense_Mutation_p.Q89H	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	93						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TTATAACCGTCTGAACTTTCA	0.378													4	153					0	0	0	0	G	166021940	C	G	166021940	3	3	466	1	0	0	0	0	1	0	0	0	16209	912	32	2	552	2	TMEM192	4	166021940	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	39652309	166021940	25132336	49	90273											
FBXO8	26269	broad.mit.edu	37	chr4	175162265	175162265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttacctttcatcaagataGattctcagttttttccaatt	10	20	3	8	0	3	2	3	0	1	2	5	2	4	2	2	0	1	1	2	0	4	9			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:175162265G>C	ENST00000393674.2	-	4	1423	c.561C>G	c.(559-561)atC>atG	p.I187M	FBXO8_ENST00000503293.1_Missense_Mutation_p.I146M	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	187	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CATCAAGATAGATTCTCAGTT	0.299													10	63					0	0	0	0	C	175162265	G	C	175162265	3	2	466	1	0	0	0	0	1	0	0	0	5806	932	33	2	410	2	FBXO8	4	175162265	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	9140325	175162265	15992011	50	90274											
NKD2	85409	broad.mit.edu	37	chr5	1034966	1034966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccgtgtgaagctaacCgtcagccctgagccctccag	8	7	9	17	2	1	2	1	2	0	0	3	2	3	2	6	0	4	1	6	0	2	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:1034966C>T	ENST00000296849.5	+	7	751	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000274150.4_Silent_p.T174T	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.T174T(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617													11	38					0	0	0	0	T	1034966	C	T	1034966	2	4	466	1	0	0	0	0	0	0	0	1	10512	639	23	1		1	NKD2	5	1034966	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08		1034966	179880294	51	90275											
CDH6	1004	broad.mit.edu	37	chr5	31323359	31323359	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttagtgactggggacctCgattcaaaaagcttgcagat	12	10	10	9	1	1	2	1	1	0	1	2	4	1	3	2	2	2	2	2	2	3	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:31323359C>T	ENST00000265071.2	+	12	2582	c.2317C>T	c.(2317-2319)Cga>Tga	p.R773*		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	773					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						CTGGGGACCTCGATTCAAAAA	0.468													57	114					0	0	0	0	T	31323359	C	T	31323359	4	4	466	1	0	0	0	0	0	1	0	0	3143	876	31	1	2359	1	CDH6	5	31323359	Nonsense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	30288393	31323359	149591901	52	90276											
SKP2	6502	broad.mit.edu	37	chr5	36181987	36181987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtgccagatggtacccttCaactgttaaaggaagccctt	10	11	9	11	1	1	1	1	0	0	1	2	2	1	2	3	2	4	2	3	2	5	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:36181987C>G	ENST00000274255.6	+	10	1325	c.1129C>G	c.(1129-1131)Caa>Gaa	p.Q377E	SKP2_ENST00000546211.1_Missense_Mutation_p.Q163E|SKP2_ENST00000508514.1_Missense_Mutation_p.Q170E|SKP2_ENST00000274254.5_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	377					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTACCCTTCAACTGTTAAA	0.413													41	197					0	0	0	0	G	36181987	C	G	36181987	3	3	466	1	0	0	0	0	1	0	0	0	14450	827	29	2	1167	2	SKP2	5	36181987	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	4858628	36181987	144733273	53	90277											
SLC30A5	64924	broad.mit.edu	37	chr5	68419115	68419115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagtttggatggttcatcGctgacccactctgttctctt	6	15	9	11	1	3	1	1	1	2	0	5	2	3	2	1	2	1	5	1	2	0	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:68419115G>A	ENST00000396591.3	+	14	2471	c.1861G>A	c.(1861-1863)Gct>Act	p.A621T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	621					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATGGTTCATCGCTGACCCACT	0.403													5	153					0	0	0	0	A	68419115	G	A	68419115	3	1	466	1	0	0	0	0	1	0	0	0	14646	1087	38	1	2003	1	SLC30A5	5	68419115	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	32237128	68419115	112496145	54	90278											
TMCO6	55374	broad.mit.edu	37	chr5	140023221	140023221	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgctgttggacttggcTggggctgtccagaaaaccga	7	11	14	9	1	0	1	0	0	0	1	1	3	1	2	2	4	3	5	2	4	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:140023221T>C	ENST00000394671.3	+	8	980	c.879T>C	c.(877-879)gcT>gcC	p.A293A	TMCO6_ENST00000537378.1_Silent_p.A53A|TMCO6_ENST00000252100.6_Silent_p.A299A|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	293					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACTTGGCTGGGGCTGTCC	0.537													83	94					0	0	0	0	C	140023221	T	C	140023221	2	2	466	1	0	0	0	0	0	0	0	1	16094	1567	55	5		5	TMCO6	5	140023221	Silent	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	71604106	140023221	40892039	55	90279											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718793	140718793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcgaagcggcagcttggtCactgcgaacaggatagaccg	10	5	14	12	5	1	1	1	0	0	1	1	4	1	2	2	3	4	2	2	3	3	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:140718793C>T	ENST00000394576.2	+	1	255	c.255C>T	c.(253-255)gtC>gtT	p.V85V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGGTCACTGCGAACA	0.552													20	100					0	0	0	0	T	140718793	C	T	140718793	2	4	466	1	0	0	0	0	0	0	0	1	11625	813	29	2		2	PCDHGA2	5	140718793	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	695572	140718793	40196467	56	90280											
SNCB	6620	broad.mit.edu	37	chr5	176056546	176056546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccaccgacgtagaggAcgccctccttggtcttctcc	6	10	8	17	3	2	1	0	0	2	1	4	3	3	2	5	2	1	1	5	2	2	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:176056546A>G	ENST00000310112.3	-	3	360	c.110T>C	c.(109-111)gTc>gCc	p.V37A	SNCB_ENST00000506696.1_Missense_Mutation_p.V37A|SNCB_ENST00000393693.2_Missense_Mutation_p.V37A|SNCB_ENST00000510387.1_Missense_Mutation_p.V37A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	37	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGTAGAGGACGCCCTCCTT	0.687													12	24					0	0	0	0	G	176056546	A	G	176056546	3	3	466	1	0	0	0	0	1	0	0	0	14930	275	10	5	314	5	SNCB	5	176056546	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	35337753	176056546	4858714	57	90281											
RASGEF1C	255426	broad.mit.edu	37	chr5	179529143	179529143	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtaagaagccaaataaagaCctagacagaaaatgaagtga	21	5	9	6	1	0	6	0	2	0	4	0	6	0	6	2	0	1	1	2	0	9	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:179529143C>T	ENST00000393371.2	-	12	1600	c.1303_splice	c.e12-1	p.G435_splice	RASGEF1C_ENST00000522500.1_Splice_Site_p.G284_splice|RASGEF1C_ENST00000361132.4_Splice_Site_p.G435_splice			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	435	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAATAAAGACCTAGACAGAA	0.418													50	117					0	0	0	0	T	179529143	C	T	179529143	5	4	466	1	0	0	0	0	0	0	1	0	13153	521	18	4	104	4	RASGEF1C	5	179529143	Splice_Site	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	3472597	179529143	1386117	58	90282											
BTNL8	79908	broad.mit.edu	37	chr5	180338421	180338421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcagtcctcgggctggttCccccggcccacagcgaagtg	5	8	13	15	3	1	0	1	0	0	0	4	1	3	0	4	3	1	2	4	3	1	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:180338421C>T	ENST00000231229.4	+	3	714	c.480C>T	c.(478-480)ttC>ttT	p.F160F	BTNL8_ENST00000511704.1_Silent_p.F44F|BTNL8_ENST00000340184.4_Silent_p.F160F|BTNL8_ENST00000508408.1_Silent_p.F160F|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000400707.3_Silent_p.F35F|BTNL8_ENST00000505126.1_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	160	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTGGTTCCCCCGGCCCA	0.532													159	354					0	0	0	0	T	180338421	C	T	180338421	2	4	466	1	0	0	0	0	0	0	0	1	1576	854	30	2		2	BTNL8	5	180338421	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	809278	180338421	576839	59	90283											
OR11A1	26531	broad.mit.edu	37	chr6	29394830	29394830	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaatgagagttgtcacctGagccactctgggatccgagc	10	8	12	11	1	2	3	1	2	1	2	3	6	3	4	3	1	2	1	3	1	1	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:29394830G>A	ENST00000377149.1	-	5	1061	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	OR11A1_ENST00000377147.2_Nonsense_Mutation_p.Q197*|OR11A1_ENST00000377148.1_Nonsense_Mutation_p.Q197*|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTTGTCACCTGAGCCACTCTG	0.512													9	38					0	0	0	0	A	29394830	G	A	29394830	4	1	466	1	0	0	0	0	0	1	0	0	10995	1299	45	2	362	2	OR11A1	6	29394830	Nonsense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		29394830	141720237	60	90284											
RGL2	5863	broad.mit.edu	37	chr6	33264023	33264023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtaagaagctctcaagccGgtcaagctgacccttggcct	11	8	10	12	1	2	2	2	1	1	1	3	2	2	2	3	2	3	3	3	2	5	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:33264023G>A	ENST00000497454.1	-	6	1045	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.R102W	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	184	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCTCAAGCCGGTCAAGCTGA	0.602													6	233					0	0	0	0	A	33264023	G	A	33264023	3	1	466	1	0	0	0	0	1	0	0	0	13359	1115	39	1	1835	1	RGL2	6	33264023	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	3869193	33264023	137851044	61	90285											
PHF1	5252	broad.mit.edu	37	chr6	33383663	33383663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgatgactgcctcatctTcctcagtttcatccccatcc	7	13	4	17	1	4	1	3	1	1	0	8	2	7	1	5	0	1	1	5	0	0	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:33383663T>C	ENST00000374516.3	+	15	1763	c.1492T>C	c.(1492-1494)Tcc>Ccc	p.S498P	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	498					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGCCTCATCTTCCTCAGTTTC	0.567													4	206					0	0	0	0	C	33383663	T	C	33383663	3	2	466	1	0	0	0	0	1	0	0	0	11892	1783	62	5	1546	5	PHF1	6	33383663	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	119640	33383663	137731404	62	90286											
RNF8	9025	broad.mit.edu	37	chr6	37342431	37342431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagagctaaatcgcagcaaGaaggactttgaagcaatcat	17	7	10	7	1	1	3	1	1	0	2	2	5	1	4	0	1	3	4	0	1	7	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:37342431G>C	ENST00000373479.4	+	5	1267	c.1074G>C	c.(1072-1074)aaG>aaC	p.K358N	RNF8_ENST00000469731.1_Missense_Mutation_p.K358N	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	358					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						ATCGCAGCAAGAAGGACTTTG	0.398													7	117					0	0	0	0	C	37342431	G	C	37342431	3	2	466	1	0	0	0	0	1	0	0	0	13585	933	33	2	1092	2	RNF8	6	37342431	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	3958768	37342431	133772636	63	90287											
LRFN2	57497	broad.mit.edu	37	chr6	40399881	40399881	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctaccaggcggtcatcgggGgctacccagtggataagggg	8	6	16	11	2	1	0	1	0	0	0	2	1	1	1	3	7	2	1	3	7	3	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:40399881G>C	ENST00000338305.6	-	2	1514	c.972C>G	c.(970-972)gcC>gcG	p.A324A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	324	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTCATCGGGGGCTACCCAGT	0.587													6	83					0	0	0	0	C	40399881	G	C	40399881	2	2	466	1	0	0	0	0	0	0	0	1	9002	1219	43	4		4	LRFN2	6	40399881	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	3057450	40399881	130715186	64	90288											
GPR116	221395	broad.mit.edu	37	chr6	46830762	46830762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaacgtttgagaaccGgcatagcttctggatgactt	9	11	13	8	2	1	2	0	2	1	1	1	5	1	4	1	3	3	4	1	3	3	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:46830762G>A	ENST00000283296.7	-	15	2350	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	GPR116_ENST00000456426.2_Missense_Mutation_p.R546W|GPR116_ENST00000265417.7_Missense_Mutation_p.R688W|GPR116_ENST00000362015.4_Missense_Mutation_p.R688W|GPR116_ENST00000545669.1_Missense_Mutation_p.R117W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	688					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTGAGAACCGGCATAGCTTC	0.507													50	166					0	0	0	0	A	46830762	G	A	46830762	3	1	466	1	0	0	0	0	1	0	0	0	6682	1115	39	1	2006	1	GPR116	6	46830762	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	6430881	46830762	124284305	65	90289											
DDX43	55510	broad.mit.edu	37	chr6	74104744	74104744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggagttgaatcgaacagGtcctgagggatatagtgtcg	11	9	16	5	2	0	2	0	2	0	0	3	6	1	5	1	4	1	1	1	4	4	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:74104744G>C	ENST00000370336.4	+	1	274	c.116G>C	c.(115-117)gGt>gCt	p.G39A	OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.G39A	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	39						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AATCGAACAGGTCCTGAGGGA	0.642													4	138					0	0	0	0	C	74104744	G	C	74104744	3	2	466	1	0	0	0	0	1	0	0	0	4395	1261	44	4	118	4	DDX43	6	74104744	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	27273982	74104744	97010323	66	90290											
L3MBTL3	84456	broad.mit.edu	37	chr6	130381184	130381184	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcattttgcattttagcatCaatcctttccatataacaaa	13	16	2	10	0	2	0	2	0	0	0	4	0	4	0	2	0	3	2	2	0	5	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:130381184C>G	ENST00000529410.1	+	12	1242	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Q255E|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Q255E			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	255					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATTTTAGCATCAATCCTTTCC	0.368													5	67					0	0	0	0	G	130381184	C	G	130381184	3	3	466	1	0	0	0	0	1	0	0	0	8646	827	29	2	793	2	L3MBTL3	6	130381184	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	56276440	130381184	40733883	67	90291											
TAAR1	134864	broad.mit.edu	37	chr6	132966607	132966607	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagacagagcaacctcctCtgcagtgaacatgtttgtaa	14	9	9	9	0	1	4	0	1	1	3	2	4	2	4	2	0	4	4	2	0	4	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:132966607C>G	ENST00000275216.1	-	1	535	c.536G>C	c.(535-537)aGa>aCa	p.R179T		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	179						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GCAACCTCCTCTGCAGTGAAC	0.373													8	145					0	0	0	0	G	132966607	C	G	132966607	3	3	466	1	0	0	0	0	1	0	0	0	15580	913	32	2	487	2	TAAR1	6	132966607	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	2585423	132966607	38148460	68	90292											
IYD	389434	broad.mit.edu	37	chr6	150710600	150710600	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaattttatgaacttctCaataagagacggtcagtcag	14	11	9	7	1	3	2	3	1	1	1	4	4	3	3	0	2	1	0	0	2	5	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:150710600C>G	ENST00000344419.3	+	2	431	c.291C>G	c.(289-291)ctC>ctG	p.L97L	IYD_ENST00000392256.2_Silent_p.L97L|IYD_ENST00000425615.3_Silent_p.L42L|IYD_ENST00000392255.3_Silent_p.L97L|IYD_ENST00000229447.5_Silent_p.L97L|IYD_ENST00000500320.3_Silent_p.L97L	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	97					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ATGAACTTCTCAATAAGAGAC	0.408													10	116					0	0	0	0	G	150710600	C	G	150710600	2	3	466	1	0	0	0	0	0	0	0	1	7985	813	29	2		2	IYD	6	150710600	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	17743993	150710600	20404467	69	90293											
MTHFD1L	25902	broad.mit.edu	37	chr6	151243429	151243430	+	Frame_Shift_Del	DEL	CT	CT	-																															gaaacttcagcctctctcccCtgtgccaaggtaacactggt																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:151243429_151243430delCT	ENST00000367321.3	+	10	1347_1348	c.1073_1074delCT	c.(1072-1074)cfs	p.P358fs		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	358	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCTCTCTCCCCTGTGCCAAGGT	0.51													14	88	---	---	---	---					-	151243430	CT	-	151243429	7	5	466	1	0	1	0	1	0	0	0	0	9998	681	24	0	1111	0	MTHFD1L	6	151243429	Frame_Shift_Del	DEL	CT	TCGA-P3-A6T4-01A-11D-A34J-08	532829	151243429	19871638	70	90294											
EZR	7430	broad.mit.edu	37	chr6	159188386	159188386	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctcactagacagctcCgcgctgtagcccgtgggctc	6	8	11	16	3	1	1	1	0	0	1	3	1	2	1	3	1	3	4	3	1	2	2	rs149944596		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:159188386C>T	ENST00000367075.3	-	13	1671	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	EZR_ENST00000392177.4_Silent_p.A469A|EZR_ENST00000337147.7_Silent_p.A501A	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	501	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TAGACAGCTCCGCGCTGTAGC	0.657			T	ROS1	NSCLC								29	104					0	0	0	0	T	159188386	C	T	159188386	2	4	466	1	0	0	0	0	0	0	0	1	5373	639	23	1		1	EZR	6	159188386	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	7944957	159188386	11926681	71	90295											
MICALL2	79778	broad.mit.edu	37	chr7	1474275	1474275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttggtgaccagatcttgGacaagcggaacttggacttc	9	13	11	8	1	1	2	0	1	1	1	2	5	1	5	1	4	2	0	1	4	2	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:1474275G>T	ENST00000297508.7	-	17	2847	c.2672C>A	c.(2671-2673)tCc>tAc	p.S891Y	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.S679Y	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	891						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCAGATCTTGGACAAGCGGAA	0.632													24	149					3.17567e-06	3.32337e-06	1	0	T	1474275	G	T	1474275	3	4	466	1	0	0	0	0	1	0	0	0	9643	1174	41	2	46	2	MICALL2	7	1474275	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		1474275	157664388	72	90296											
BLVRA	644	broad.mit.edu	37	chr7	43832348	43832348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggcaagcacgtccttgtgGaataccccatgacactgtca	10	9	9	13	1	1	1	1	1	0	0	2	2	2	2	3	2	2	2	3	2	3	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:43832348G>A	ENST00000402924.1	+	6	452	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	BLVRA_ENST00000265523.4_Missense_Mutation_p.E97K	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	97					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	CGTCCTTGTGGAATACCCCAT	0.473													12	83					0	0	0	0	A	43832348	G	A	43832348	3	1	466	1	0	0	0	0	1	0	0	0	1456	1175	41	2	303	2	BLVRA	7	43832348	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	42358073	43832348	115306315	73	90297											
SUMF2	25870	broad.mit.edu	37	chr7	56145842	56145842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggatggcttccatggagtCtccccagtgaatgctttccc	7	11	11	12	0	1	1	0	1	1	0	4	4	3	3	4	3	1	2	4	3	1	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:56145842C>T	ENST00000434526.2	+	7	727	c.696C>T	c.(694-696)gtC>gtT	p.V232V	SUMF2_ENST00000275607.9_Silent_p.V125V|SUMF2_ENST00000437307.2_Silent_p.V144V|SUMF2_ENST00000395436.2_Silent_p.V217V|SUMF2_ENST00000413756.1_Silent_p.V213V|SUMF2_ENST00000395435.2_Silent_p.V148V|SUMF2_ENST00000342190.6_Silent_p.V232V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	213						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCATGGAGTCTCCCCAGTGA	0.542													12	185					0	0	0	0	T	56145842	C	T	56145842	2	4	466	1	0	0	0	0	0	0	0	1	15476	900	32	2		2	SUMF2	7	56145842	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	12313494	56145842	102992821	74	90298											
ZNF92	168374	broad.mit.edu	37	chr7	64853793	64853793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggaatctgaagagacatGagatggtagacaaaacccca	16	6	10	9	0	1	4	0	2	1	3	1	7	1	5	3	2	1	1	3	2	5	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:64853793G>C	ENST00000328747.7	+	3	404	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	ZNF92_ENST00000450302.2_5'UTR|ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000357512.2_Intron	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	69	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAAGAGACATGAGATGGTAGA	0.408													7	229					0	0	0	0	C	64853793	G	C	64853793	3	2	466	1	0	0	0	0	1	0	0	0	18294	1291	45	2	215	2	ZNF92	7	64853793	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	8707951	64853793	94284870	75	90299											
PTPRZ1	5803	broad.mit.edu	37	chr7	121623770	121623770	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgaaccttctgccaaactCaactgacaagtattacattt	13	13	5	10	0	2	2	1	2	1	0	2	2	2	2	2	0	5	2	2	0	6	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:121623770C>G	ENST00000393386.2	+	7	1082	c.671C>G	c.(670-672)tCa>tGa	p.S224*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.S224*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	224	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						CTGCCAAACTCAACTGACAAG	0.393													19	164					0	0	0	0	G	121623770	C	G	121623770	4	3	466	1	0	0	0	0	0	1	0	0	12896	838	29	2	697	2	PTPRZ1	7	121623770	Nonsense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	56769977	121623770	37514893	76	90300											
XPO7	23039	broad.mit.edu	37	chr8	21842252	21842252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaatatgagaagacgtGtgcactcctcgtgcagttgt	9	13	12	7	2	0	3	0	2	0	2	2	4	1	3	1	0	2	3	1	0	3	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:21842252G>C	ENST00000434536.1	+	12	1502	c.1400G>C	c.(1399-1401)tGt>tCt	p.C467S	XPO7_ENST00000252512.9_Missense_Mutation_p.C458S|XPO7_ENST00000433566.4_Missense_Mutation_p.C459S			Q9UIA9	XPO7_HUMAN	exportin 7	458					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAGAAGACGTGTGCACTCCTC	0.577													10	38					0	0	0	0	C	21842252	G	C	21842252	3	2	466	1	0	0	0	0	1	0	0	0	17545	1377	48	4	1471	4	XPO7	8	21842252	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		21842252	124521770	77	90301											
ST18	9705	broad.mit.edu	37	chr8	53071619	53071619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctctgggtgtgggcgcCtgcactaggcagtcgattag	6	9	17	9	2	1	0	0	0	1	0	2	1	1	0	1	4	1	3	1	4	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:53071619C>G	ENST00000276480.7	-	15	2328	c.1645G>C	c.(1645-1647)Ggc>Cgc	p.G549R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGTGGGCGCCTGCACTAGGC	0.478													45	51					0	0	0	0	G	53071619	C	G	53071619	3	3	466	1	0	0	0	0	1	0	0	0	15302	681	24	4	1546	4	ST18	8	53071619	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	31229367	53071619	93292403	78	90302											
LY96	23643	broad.mit.edu	37	chr8	74941282	74941282	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcctacaccaacctaattCaaattagaataaattgagta	18	11	3	9	0	1	2	1	1	0	1	2	2	2	2	3	0	2	1	3	0	9	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:74941282C>G	ENST00000284818.2	+	5	567	c.476C>G	c.(475-477)tCa>tGa	p.S159*	LY96_ENST00000518893.1_Nonsense_Mutation_p.S129*	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	159					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CAACCTAATTCAAATTAGAAT	0.323													17	104					0	0	0	0	G	74941282	C	G	74941282	4	3	466	1	0	0	0	0	0	1	0	0	9167	838	29	2	494	2	LY96	8	74941282	Nonsense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	21869663	74941282	71422740	79	90303											
KIAA1429	25962	broad.mit.edu	37	chr8	95508575	95508575	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaacaagcttctctagtTcaaggaacaaattttctgga	15	11	6	9	0	3	0	1	0	2	0	4	2	3	2	1	2	3	2	1	2	7	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:95508575T>A	ENST00000297591.5	-	18	4439	c.4364A>T	c.(4363-4365)gAa>gTa	p.E1455V	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1455					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTCTCTAGTTCAAGGAACAA	0.373													90	64					0	0	0	0	A	95508575	T	A	95508575	3	1	466	1	0	0	0	0	1	0	0	0	8282	1783	62	5	1102	5	KIAA1429	8	95508575	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	20567293	95508575	50855447	80	90304											
MTERFD1	51001	broad.mit.edu	37	chr8	97270868	97270868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcattaatgaggctcctCaacttaactgagttaaacca	14	10	7	10	0	1	2	1	2	0	0	2	2	2	2	2	1	4	4	2	1	5	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:97270868C>G	ENST00000523821.1	-	2	170	c.51G>C	c.(49-51)ttG>ttC	p.L17F	MTERFD1_ENST00000287025.3_Missense_Mutation_p.L17F			Q96E29	MTER1_HUMAN	MTERF domain containing 1	17					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGAGGCTCCTCAACTTAACTG	0.398													44	258					0	0	0	0	G	97270868	C	G	97270868	3	3	466	1	0	0	0	0	1	0	0	0	9989	825	29	2	1230	2	MTERFD1	8	97270868	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	1762293	97270868	49093154	81	90305											
NOV	4856	broad.mit.edu	37	chr8	120430335	120430335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtgttcgatggggtcatCtaccgcagtggagagaaatt	9	12	14	6	2	2	1	1	0	1	1	3	4	2	2	1	3	1	2	1	3	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:120430335C>G	ENST00000259526.3	+	3	575	c.348C>G	c.(346-348)atC>atG	p.I116M		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	116	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGGGTCATCTACCGCAGTG	0.488													19	198					0	0	0	0	G	120430335	C	G	120430335	3	3	466	1	0	0	0	0	1	0	0	0	10623	903	32	2	358	2	NOV	8	120430335	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	23159467	120430335	25933687	82	90306											
RFX3	5991	broad.mit.edu	37	chr9	3275520	3275520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacagtgctctctataaaGactctgcagtgacttgatat	11	13	7	10	0	3	3	1	2	2	1	4	3	3	3	0	0	2	2	0	0	4	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:3275520G>C	ENST00000382004.3	-	10	1377	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	RFX3_ENST00000302303.1_Missense_Mutation_p.L356V|RFX3_ENST00000358730.2_Missense_Mutation_p.L356V	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	356					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCTCTATAAAGACTCTGCAGT	0.388													25	85					0	0	0	0	C	3275520	G	C	3275520	3	2	466	1	0	0	0	0	1	0	0	0	13346	942	33	2	1375	2	RFX3	9	3275520	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		3275520	137937911	83	90307											
FREM1	158326	broad.mit.edu	37	chr9	14776092	14776092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcccacggccccttgggCcagtctcaaccccttgttcc	5	8	9	19	1	1	0	1	0	1	0	3	0	2	0	7	3	1	1	7	3	1	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:14776092C>T	ENST00000380881.4	-	26	5370	c.4555G>A	c.(4555-4557)Gcc>Acc	p.A1519T	FREM1_ENST00000380880.3_Missense_Mutation_p.A1518T|FREM1_ENST00000380894.1_Missense_Mutation_p.A54T|FREM1_ENST00000422223.2_Missense_Mutation_p.A1518T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1518					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCCCTTGGGCCAGTCTCAAC	0.607													36	58					0	0	0	0	T	14776092	C	T	14776092	3	4	466	1	0	0	0	0	1	0	0	0	6092	739	26	4	2039	4	FREM1	9	14776092	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	11500572	14776092	126437339	84	90308											
DCAF12	25853	broad.mit.edu	37	chr9	34093292	34093292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggactcttaccactgcctCgctccctggaacagacagac	10	7	9	15	1	1	2	0	0	1	2	3	4	2	4	3	2	3	1	3	2	2	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:34093292C>T	ENST00000361264.4	-	7	1357	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	339						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						ACCACTGCCTCGCTCCCTGGA	0.502													13	85					0	0	0	0	T	34093292	C	T	34093292	3	4	466	1	0	0	0	0	1	0	0	0	4296	884	31	1	357	1	DCAF12	9	34093292	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	19317200	34093292	107120139	85	90309											
PRUNE2	158471	broad.mit.edu	37	chr9	79323209	79323209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctccctgggcttccttCtcactttcactttgtccatc	3	16	7	15	0	2	0	2	0	1	0	7	0	5	0	3	2	0	2	3	2	0	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:79323209C>T	ENST00000428286.1	-	8	4104	c.2904G>A	c.(2902-2904)gaG>gaA	p.E968E	PRUNE2_ENST00000376718.3_Silent_p.E1327E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1327					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGCTTCCTTCTCACTTTCAC	0.522													33	42					0	0	0	0	T	79323209	C	T	79323209	2	4	466	1	0	0	0	0	0	0	0	1	12720	912	32	2		2	PRUNE2	9	79323209	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	45229917	79323209	61890222	86	90310											
ZNF189	7743	broad.mit.edu	37	chr9	104171756	104171756	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaggagagaaaccttataAgtgtgagaagtgcgacaaaa	18	6	11	6	1	0	2	0	1	0	2	0	6	0	3	1	1	2	0	1	1	6	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:104171756A>C	ENST00000374861.3	+	3	1948	c.1664A>C	c.(1663-1665)aAg>aCg	p.K555T	ZNF189_ENST00000259395.4_Missense_Mutation_p.K527T|ZNF189_ENST00000339664.2_Missense_Mutation_p.K569T	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	569					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACCTTATAAGTGTGAGAAG	0.438													19	99					0	0	0	0	C	104171756	A	C	104171756	3	2	466	1	0	0	0	0	1	0	0	0	17849	72	3	5	1716	5	ZNF189	9	104171756	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	24848547	104171756	37041675	87	90311											
ASTN2	23245	broad.mit.edu	37	chr9	119903610	119903610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaggagggcctacctcgaGacttgctcctccgcttcctc	5	9	10	17	2	0	1	0	0	0	1	5	3	3	2	6	2	2	2	6	2	1	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:119903610G>C	ENST00000313400.4	-	4	1263	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.S388C|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	388						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCTACCTCGAGACTTGCTCCT	0.572													11	46					0	0	0	0	C	119903610	G	C	119903610	3	2	466	1	0	0	0	0	1	0	0	0	1069	957	33	2		2	ASTN2	9	119903610	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	15731854	119903610	21309821	88	90312											
TLR4	7099	broad.mit.edu	37	chr9	120475135	120475135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatagtttaaatgtaatGaaaacttgtattcaaggtct	14	17	7	3	0	2	2	1	2	1	0	2	2	2	2	0	1	1	3	0	1	8	8			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:120475135G>T	ENST00000355622.6	+	3	830	c.729G>T	c.(727-729)atG>atT	p.M243I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.M203I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	243					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TAAATGTAATGAAAACTTGTA	0.348													74	54					9.98788e-38	1.09091e-37	1	0	T	120475135	G	T	120475135	3	4	466	1	0	0	0	0	1	0	0	0	16047	1290	45	2	739	2	TLR4	9	120475135	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	571525	120475135	20738296	89	90313											
NEBL	10529	broad.mit.edu	37	chr10	21178840	21178845	+	In_Frame_Del	DEL	CTTATC	CTTATC	-																															ctgtcagtcacaaatgtacaCttatccttggactttttaaa																								rs71578975	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:21178840_21178845delCTTATC	ENST00000377122.4	-	3	583_588	c.187_192delGATAAG	c.(187-192)del	p.DK63del	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_In_Frame_Del_p.DK63del	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	63					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAAATGTACACTTATCCTTGGACTTT	0.32													24	64	---	---	---	---					-	21178845	CTTATC	-	21178840	7	5	466	1	0	1	0	1	0	0	0	0	10373	564	20	0	2956	0	NEBL	10	21178840	In_Frame_Del	DEL	CTTATC	TCGA-P3-A6T4-01A-11D-A34J-08		21178840	114355907	90	90314											
A1CF	29974	broad.mit.edu	37	chr10	52595975	52595975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcagtaacctttttcatctCcgataagatttcttctctct	8	19	3	11	1	6	1	2	0	4	1	8	2	6	1	2	0	1	1	2	0	2	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:52595975C>T	ENST00000395489.2	-	8	838	c.442G>A	c.(442-444)Gag>Aag	p.E148K	A1CF_ENST00000282641.2_Missense_Mutation_p.E155K|A1CF_ENST00000373997.3_Missense_Mutation_p.E155K|A1CF_ENST00000373995.3_Missense_Mutation_p.E163K|A1CF_ENST00000374001.1_Missense_Mutation_p.E155K|A1CF_ENST00000395495.1_Missense_Mutation_p.E155K|A1CF_ENST00000373993.1_Missense_Mutation_p.E155K	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	155	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTTTCATCTCCGATAAGATT	0.468													25	369					0	0	0	0	T	52595975	C	T	52595975	3	4	466	1	0	0	0	0	1	0	0	0	2	864	30	2	1353	2	A1CF	10	52595975	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	31417135	52595975	82938772	91	90315											
GFRA1	2674	broad.mit.edu	37	chr10	118030416	118030416	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcttgcagcggcagttgtaGagcgacttctgcttcagggc	6	10	14	11	3	2	1	1	0	1	1	2	2	2	1	0	2	4	6	0	2	1	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:118030416G>C	ENST00000439649.3	-	3	619	c.252C>G	c.(250-252)ctC>ctG	p.L84L	GFRA1_ENST00000369236.1_Silent_p.L84L|GFRA1_ENST00000355422.6_Silent_p.L84L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	84					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCAGTTGTAGAGCGACTTCT	0.612													18	54					0	0	0	0	C	118030416	G	C	118030416	2	2	466	1	0	0	0	0	0	0	0	1	6398	929	33	2		2	GFRA1	10	118030416	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	65434441	118030416	17504331	92	90316											
KNDC1	85442	broad.mit.edu	37	chr10	135027489	135027489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccagagccagctcttctGagtctctttcggccaaaacc	8	11	7	15	1	3	2	0	1	3	1	6	2	4	2	4	1	3	1	4	1	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:135027489G>A	ENST00000304613.3	+	26	4561	c.4540G>A	c.(4540-4542)Gag>Aag	p.E1514K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1516K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1514	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGCTCTTCTGAGTCTCTTTC	0.557													6	227					0	0	0	0	A	135027489	G	A	135027489	3	1	466	1	0	0	0	0	1	0	0	0	8478	1291	45	2	4642	2	KNDC1	10	135027489	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	16997073	135027489	507258	93	90317											
EIF1AD	84285	broad.mit.edu	37	chr11	65766195	65766195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgataactgtggctcagctgGgagttctggttgagtttgtc	6	15	14	6	0	2	2	1	2	1	0	3	3	2	3	0	3	2	5	0	3	1	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:65766195G>A	ENST00000312234.2	-	6	707	c.373C>T	c.(373-375)Cca>Tca	p.P125S	EIF1AD_ENST00000533544.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000527249.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000526451.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000525767.1_Missense_Mutation_p.P73S	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	125						nucleus	translation initiation factor activity			lung(5)	5						GGCTCAGCTGGGAGTTCTGGT	0.473													73	180					0	0	0	0	A	65766195	G	A	65766195	3	1	466	1	0	0	0	0	1	0	0	0	5027	1232	43	4	128	4	EIF1AD	11	65766195	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		65766195	69240321	94	90318											
CLCF1	23529	broad.mit.edu	37	chr11	67132766	67132766	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaagtcactgtgggcAgggccaggagtccaagtggg	9	6	19	7	0	1	0	1	0	0	0	2	3	2	3	2	6	0	1	2	6	2	0			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:67132766A>T	ENST00000312438.7	-	3	716	c.519T>A	c.(517-519)ccT>ccA	p.P173P	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Silent_p.P163P|CLCF1_ENST00000528474.1_Silent_p.P163P	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	173					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CACTGTGGGCAGGGCCAGGAG	0.642													14	53					0	0	0	0	T	67132766	A	T	67132766	2	4	466	1	0	0	0	0	0	0	0	1	3491	175	7	5		5	CLCF1	11	67132766	Silent	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	1366571	67132766	67873750	95	90319											
RELT	84957	broad.mit.edu	37	chr11	73101946	73101946	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcaactcgagatacactCtgtggagactgctggcctgg	9	9	13	10	1	1	2	0	0	1	2	2	4	1	2	1	4	3	2	1	4	2	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:73101946C>G	ENST00000064780.2	+	4	528	c.267C>G	c.(265-267)ctC>ctG	p.L89L	RELT_ENST00000393580.2_Silent_p.L89L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	89						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GAGATACACTCTGTGGAGACT	0.642													24	50					0	0	0	0	G	73101946	C	G	73101946	2	3	466	1	0	0	0	0	0	0	0	1	13303	900	32	2		2	RELT	11	73101946	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	5969180	73101946	61904570	96	90320											
APOA4	337	broad.mit.edu	37	chr11	116692154	116692154	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaatcttgactttgaatTcgtcagcgtagggcgtaagg	9	12	13	7	3	3	2	2	2	1	0	4	2	3	2	0	3	1	2	0	3	4	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:116692154T>C	ENST00000357780.3	-	3	734	c.620A>G	c.(619-621)gAa>gGa	p.E207G		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GACTTTGAATTCGTCAGCGTA	0.622													109	155					0	0	0	0	C	116692154	T	C	116692154	3	2	466	1	0	0	0	0	1	0	0	0	785	1783	62	5	574	5	APOA4	11	116692154	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	43590208	116692154	18314362	97	90321											
SIK3	23387	broad.mit.edu	37	chr11	116767020	116767020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactcagcacgcgggcccGcagattctgcagtgtgcttc	6	9	11	15	3	2	1	1	0	1	1	4	1	3	1	2	1	3	4	2	1	0	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:116767020G>A	ENST00000375300.1	-	6	819	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	SIK3_ENST00000434315.2_Missense_Mutation_p.R113W|SIK3_ENST00000542607.1_Missense_Mutation_p.R214W|SIK3_ENST00000292055.4_Missense_Mutation_p.R214W|SIK3_ENST00000446921.2_Missense_Mutation_p.R272W|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	214						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ACGCGGGCCCGCAGATTCTGC	0.512													5	155					0	0	0	0	A	116767020	G	A	116767020	3	1	466	1	0	0	0	0	1	0	0	0	14407	1086	38	1	3223	1	SIK3	11	116767020	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	74866	116767020	18239496	98	90322											
CCDC153	283152	broad.mit.edu	37	chr11	119061140	119061140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgatggctctcagcttggCcaagagcctgtccagactgt	7	11	11	12	0	1	3	1	1	1	2	3	3	2	3	3	2	2	2	3	2	1	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:119061140C>T	ENST00000503566.2	-	6	501	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	CCDC153_ENST00000415318.1_Missense_Mutation_p.A168T			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	168										lung(3)|stomach(1)	4						CTCAGCTTGGCCAAGAGCCTG	0.567													4	101					0	0	0	0	T	119061140	C	T	119061140	3	4	466	1	0	0	0	0	1	0	0	0	2813	739	26	4	134	4	CCDC153	11	119061140	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	2294120	119061140	15945376	99	90323											
TECTA	7007	broad.mit.edu	37	chr11	120998954	120998954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaaatcgacatcaacaaGaagaagcccgatgcaggacc	16	5	10	10	2	1	2	1	0	0	2	2	6	1	4	2	2	3	1	2	2	5	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:120998954G>A	ENST00000392793.1	+	9	2539	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K	TECTA_ENST00000264037.2_Silent_p.K756K			O75443	TECTA_HUMAN	tectorin alpha	756	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACATCAACAAGAAGAAGCCCG	0.602													5	88					0	0	0	0	A	120998954	G	A	120998954	2	1	466	1	0	0	0	0	0	0	0	1	15841	933	33	2		2	TECTA	11	120998954	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	1937814	120998954	14007562	100	90324											
ETNK1	55500	broad.mit.edu	37	chr12	22826466	22826466	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagactatagtctgtatccaGatagagaactacagagtcag	15	10	9	7	0	2	4	1	0	1	4	3	5	3	4	1	0	2	1	1	0	7	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:22826466G>C	ENST00000266517.4	+	6	1173	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	362					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGTATCCAGATAGAGAACT	0.363													17	171					0	0	0	0	C	22826466	G	C	22826466	3	2	466	1	0	0	0	0	1	0	0	0	5311	942	33	2	1204	2	ETNK1	12	22826466	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		22826466	111025429	101	90325											
FAR2	55711	broad.mit.edu	37	chr12	29485599	29485599	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaattatgttttgggagttAaaaaatacttattgaaagag	18	14	8	1	0	0	2	0	1	0	1	0	3	0	3	0	1	1	2	0	1	9	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:29485599A>T	ENST00000182377.4	+	11	1592	c.1324A>T	c.(1324-1326)Aaa>Taa	p.K442*	FAR2_ENST00000536681.2_Nonsense_Mutation_p.K442*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.K345*	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	442					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TTTGGGAGTTAAAAAATACTT	0.358													36	76					0	0	0	0	T	29485599	A	T	29485599	4	4	466	1	0	0	0	0	0	1	0	0	5720	363	13	5	1362	5	FAR2	12	29485599	Nonsense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	6659133	29485599	104366296	102	90326											
YAF2	10138	broad.mit.edu	37	chr12	42555436	42555436	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttttcttatggctattcTttttgctagttgtttccttt	3	25	7	6	0	2	0	0	0	2	0	3	0	3	0	1	2	1	5	1	2	3	11			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:42555436T>A	ENST00000327791.4	-	4	279	c.212A>T	c.(211-213)aAg>aTg	p.K71M	YAF2_ENST00000380788.3_Missense_Mutation_p.K86M|YAF2_ENST00000380790.4_Missense_Mutation_p.K53M|YAF2_ENST00000442791.3_Missense_Mutation_p.K119M|YAF2_ENST00000534854.2_Missense_Mutation_p.K95M			Q8IY57	YAF2_HUMAN	YY1 associated factor 2	95					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		ATGGCTAttctttttgctagt	0.299													12	46					0	0	0	0	A	42555436	T	A	42555436	3	1	466	1	0	0	0	0	1	0	0	0	17561	1609	56	5	266	5	YAF2	12	42555436	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	13069837	42555436	91296459	103	90327											
NR4A1	3164	broad.mit.edu	37	chr12	52451243	52451243	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacagtatcctggccttctCaaggtccctgcacagcttgc	7	11	9	14	0	1	1	1	1	1	0	4	1	3	1	3	2	3	3	3	2	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:52451243C>G	ENST00000545748.1	+	7	2626	c.1631C>G	c.(1630-1632)tCa>tGa	p.S544*	NR4A1_ENST00000550082.1_Nonsense_Mutation_p.S503*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.S503*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.S490*|NR4A1_ENST00000243050.1_Nonsense_Mutation_p.S490*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.S490*			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	490					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGGCCTTCTCAAGGTCCCTG	0.612													24	62					0	0	0	0	G	52451243	C	G	52451243	4	3	466	1	0	0	0	0	0	1	0	0	10703	838	29	2	1487	2	NR4A1	12	52451243	Nonsense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	9895807	52451243	81400652	104	90328											
RPS26	6231	broad.mit.edu	37	chr12	56436379	56436379	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatttctgaagcgagcgtCttcgatggtaagtgggtcac	9	11	13	8	3	3	1	1	1	2	0	4	4	3	1	0	2	2	1	0	2	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:56436379C>G	ENST00000356464.5	+	2	488	c.174C>G	c.(172-174)gtC>gtG	p.V58V	RPS26_ENST00000552361.1_Silent_p.V58V			P62854	RS26_HUMAN	ribosomal protein S26	58					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGCGAGCGTCTTCGATGGTA	0.537													28	72					0	0	0	0	G	56436379	C	G	56436379	2	3	466	1	0	0	0	0	0	0	0	1	13722	900	32	2		2	RPS26	12	56436379	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	3985136	56436379	77415516	105	90329											
HSD17B6	8630	broad.mit.edu	37	chr12	57167906	57167906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttaccaagatggagagcatCgctgcagctactcagtgggt	10	9	13	9	1	1	2	1	0	0	2	2	3	1	2	1	2	5	5	1	2	3	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:57167906C>T	ENST00000554643.1	+	3	619	c.270C>T	c.(268-270)atC>atT	p.I90I	HSD17B6_ENST00000554150.1_Silent_p.I90I|HSD17B6_ENST00000555159.1_Silent_p.I90I|HSD17B6_ENST00000322165.1_Silent_p.I90I|HSD17B6_ENST00000555805.1_Silent_p.I90I			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	90					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TGGAGAGCATCGCTGCAGCTA	0.512													26	59					0	0	0	0	T	57167906	C	T	57167906	2	4	466	1	0	0	0	0	0	0	0	1	7437	874	31	1		1	HSD17B6	12	57167906	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	731527	57167906	76683989	106	90330											
DDIT3	1649	broad.mit.edu	37	chr12	57911229	57911229	+	Frame_Shift_Del	DEL	A	A	-																															tggaaaagcacatctgcaggAtaatggggagtggctggaac																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:57911229delA	ENST00000551116.1	-	3	297	c.30delT	c.(28-30)tafs	p.Y10fs	DDIT3_ENST00000346473.3_Intron|DDIT3_ENST00000547303.1_Intron|DDIT3_ENST00000552740.1_Frame_Shift_Del_p.Y10fs	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	0				FGTLS -> SDTV (in Ref. 1; AAB22646).	cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CATCTGCAGGATAATGGGGAG	0.507			T	FUS	liposarcoma								15	46	---	---	---	---					-	57911229	A	-	57911229	7	5	466	1	0	1	0	1	0	0	0	0	4362	348	12	0		0	DDIT3	12	57911229	Frame_Shift_Del	DEL	A	TCGA-P3-A6T4-01A-11D-A34J-08	743323	57911229	75940666	107	90331											
TSPAN31	6302	broad.mit.edu	37	chr12	58140501	58140501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagattatgatttctgcactGcagtgagtgtgttgggggtg	8	14	15	4	0	1	3	0	2	1	1	1	3	1	3	0	2	2	3	0	2	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:58140501G>T	ENST00000257910.3	+	4	716	c.442G>T	c.(442-444)Gca>Tca	p.A148S	TSPAN31_ENST00000547992.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Missense_Mutation_p.A65S	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	148					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTTCTGCACTGCAGTGAGTGT	0.448													12	61					0.00136819	0.00139296	1	0	T	58140501	G	T	58140501	3	4	466	1	0	0	0	0	1	0	0	0	16741	1319	46	4	456	4	TSPAN31	12	58140501	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	229272	58140501	75711394	108	90332											
IFNG	3458	broad.mit.edu	37	chr12	68551860	68551860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaatttggctctgcattaTttttctgtcactctccttgg	6	18	7	10	0	4	0	1	0	3	0	5	1	4	0	1	2	1	2	1	2	2	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:68551860T>A	ENST00000229135.3	-	3	330	c.199A>T	c.(199-201)Ata>Tta	p.I67L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	67					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	CTCTGCATTATTTTTCTGTCA	0.373													5	88					0	0	0	0	A	68551860	T	A	68551860	3	1	466	1	0	0	0	0	1	0	0	0	7601	1493	52	5	309	5	IFNG	12	68551860	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	10411359	68551860	65300035	109	90333											
PTPRR	5801	broad.mit.edu	37	chr12	71056307	71056307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcgaatggtgtagttatCacattcatttacactgataa	12	16	7	6	1	2	1	2	1	0	0	3	2	2	1	0	1	1	3	0	1	5	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:71056307C>T	ENST00000283228.2	-	11	2028	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.D281N|PTPRR_ENST00000378778.1_Missense_Mutation_p.D320N|PTPRR_ENST00000342084.4_Missense_Mutation_p.D414N|PTPRR_ENST00000549308.1_Missense_Mutation_p.D281N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	526	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTGTAGTTATCACATTCATTT	0.363													25	80					0	0	0	0	T	71056307	C	T	71056307	3	4	466	1	0	0	0	0	1	0	0	0	12892	826	29	2	413	2	PTPRR	12	71056307	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	2504447	71056307	62795588	110	90334											
CDK17	5128	broad.mit.edu	37	chr12	96683014	96683014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccggtaccatagtgtgAcaacttcatttgagtaggtc	9	12	12	8	1	1	2	1	2	0	0	2	2	1	2	2	3	2	2	2	3	4	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:96683014A>G	ENST00000261211.3	-	11	1652	c.1049T>C	c.(1048-1050)gTc>gCc	p.V350A	CDK17_ENST00000542666.1_Missense_Mutation_p.V297A|CDK17_ENST00000543119.2_Missense_Mutation_p.V350A	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	350	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CCATAGTGTGACAACTTCATT	0.413													9	150					0	0	0	0	G	96683014	A	G	96683014	3	3	466	1	0	0	0	0	1	0	0	0	3162	275	10	5	588	5	CDK17	12	96683014	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	25626707	96683014	37168881	111	90335											
CHD8	57680	broad.mit.edu	37	chr14	21870238	21870238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttcctccatgatggCtgcatatgctccttttctta	7	17	5	12	0	3	1	1	1	2	0	6	1	6	1	3	1	2	3	3	1	2	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr14:21870238C>G	ENST00000399982.2	-	19	4004	c.3940G>C	c.(3940-3942)Gcc>Ccc	p.A1314P	CHD8_ENST00000557364.1_Missense_Mutation_p.A1314P|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.A1035P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1314					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCCATGATGGCTGCATATGCT	0.378													18	96					0	0	0	0	G	21870238	C	G	21870238	3	3	466	1	0	0	0	0	1	0	0	0	3360	797	28	4	3881	4	CHD8	14	21870238	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08		21870238	85479302	112	90336											
PYGL	5836	broad.mit.edu	37	chr14	51376671	51376671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaagatgaacaggttctCttccccagcttcttctgcca	9	11	7	14	0	3	2	0	1	3	1	5	2	4	2	4	1	3	2	4	1	2	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr14:51376671C>G	ENST00000216392.7	-	17	2451	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	PYGL_ENST00000544180.2_Missense_Mutation_p.E673Q|PYGL_ENST00000532462.1_Missense_Mutation_p.E707Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	707					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AACAGGTTCTCTTCCCCAGCT	0.507													6	319					0	0	0	0	G	51376671	C	G	51376671	3	3	466	1	0	0	0	0	1	0	0	0	12943	922	32	2	440	2	PYGL	14	51376671	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	29506433	51376671	55972869	113	90337											
AVEN	57099	broad.mit.edu	37	chr15	34159749	34159749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatttcaggtcctgagacGtctgatctggtaagatgtta	9	14	12	6	1	3	3	1	2	2	2	4	5	4	4	1	3	0	2	1	3	2	3	rs115892491	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:34159749G>A	ENST00000306730.3	-	5	1049	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	307					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	p.T307M(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		GTCCTGAGACGTCTGATCTGG	0.433													93	103					0	0	0	0	A	34159749	G	A	34159749	3	1	466	1	0	0	0	0	1	0	0	0	1230	1145	40	1	176	1	AVEN	15	34159749	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		34159749	68371643	114	90338											
TTBK2	146057	broad.mit.edu	37	chr15	43075781	43075781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttcatctggaaatacctCatctgtattttctcgaagca	10	15	6	10	1	5	0	2	0	3	0	6	2	5	1	1	1	2	3	1	1	4	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:43075781C>T	ENST00000267890.6	-	11	1141	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	TTBK2_ENST00000567840.1_Missense_Mutation_p.E345K|TTBK2_ENST00000567274.1_Missense_Mutation_p.E310K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	345					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGAAATACCTCATCTGTATTT	0.443													52	211					0	0	0	0	T	43075781	C	T	43075781	3	4	466	1	0	0	0	0	1	0	0	0	16773	835	29	2	2721	2	TTBK2	15	43075781	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	8916032	43075781	59455611	115	90339											
CTDSPL2	51496	broad.mit.edu	37	chr15	44776530	44776530	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacctaacaaacagatatctCgagtaagacggaaaagtcaa	20	6	7	8	2	2	2	1	0	1	2	3	4	2	3	1	1	3	1	1	1	8	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:44776530C>T	ENST00000260327.4	+	3	858	c.295C>T	c.(295-297)Cga>Tga	p.R99*	CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.R99*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.R99*|CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.R99*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	99							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACAGATATCTCGAGTAAGACG	0.343													10	49					0	0	0	0	T	44776530	C	T	44776530	4	4	466	1	0	0	0	0	0	1	0	0	4038	876	31	1	301	1	CTDSPL2	15	44776530	Nonsense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	1700749	44776530	57754862	116	90340											
VPS13C	54832	broad.mit.edu	37	chr15	62170909	62170909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtttttctttgtctgattCttcacctccggaacccaaag	7	16	6	12	1	4	1	1	1	3	0	5	2	5	2	3	1	1	1	3	1	2	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:62170909C>T	ENST00000261517.5	-	74	10112	c.10039G>A	c.(10039-10041)Gaa>Aaa	p.E3347K	VPS13C_ENST00000395898.3_Missense_Mutation_p.E3304K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E3304K|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.E3347K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3347					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTCTGATTCTTCACCTCCG	0.338													12	40					0	0	0	0	T	62170909	C	T	62170909	3	4	466	1	0	0	0	0	1	0	0	0	17287	922	32	2	1298	2	VPS13C	15	62170909	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	17394379	62170909	40360483	117	90341											
PIGQ	9091	broad.mit.edu	37	chr16	630911	630911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatctgctcgtggacctCatcaactccctgccgctgta	7	11	7	16	2	3	0	2	0	1	0	6	1	5	1	4	1	3	3	4	1	2	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:630911C>T	ENST00000321878.5	+	9	1629	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	PIGQ_ENST00000409527.2_Silent_p.L490L|PIGQ_ENST00000026218.5_Silent_p.L490L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	490	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCGTGGACCTCATCAACTCCC	0.667													75	194					0	0	0	0	T	630911	C	T	630911	2	4	466	1	0	0	0	0	0	0	0	1	11968	813	29	2		2	PIGQ	16	630911	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08		630911	89723842	118	90342											
UBN1	29855	broad.mit.edu	37	chr16	4910834	4910834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggaagctcagggcctgcggGaactggagggtgcctctgac	7	6	17	11	2	2	1	1	1	1	0	2	4	2	4	2	5	4	1	2	5	2	0			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:4910834G>A	ENST00000396658.4	+	6	1544	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	UBN1_ENST00000590769.1_Missense_Mutation_p.E281K|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.E281K|UBN1_ENST00000545171.1_Missense_Mutation_p.E281K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	281					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGGCCTGCGGGAACTGGAGGG	0.542													42	90					0	0	0	0	A	4910834	G	A	4910834	3	1	466	1	0	0	0	0	1	0	0	0	16988	1175	41	2	863	2	UBN1	16	4910834	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	4279923	4910834	85443919	119	90343											
RSL1D1	26156	broad.mit.edu	37	chr16	11931942	11931942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattaggactctttgctggaGacttctttcctgtggcatgt	6	16	11	8	0	2	1	0	0	2	1	3	4	3	2	1	3	1	2	1	3	1	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:11931942G>A	ENST00000571133.1	-	9	1247	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	RSL1D1_ENST00000542106.1_Missense_Mutation_p.S172F	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	392					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						CTTTGCTGGAGACTTCTTTCC	0.438													5	404					0	0	0	0	A	11931942	G	A	11931942	3	1	466	1	0	0	0	0	1	0	0	0	13785	942	33	2	301	2	RSL1D1	16	11931942	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	7021108	11931942	78422811	120	90344											
PALB2	79728	broad.mit.edu	37	chr16	23632776	23632776	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatagtctcctcagggggcAtcaaaaattggttttctttg	9	15	10	7	0	4	0	2	0	2	0	5	0	4	0	1	3	0	3	1	3	4	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:23632776A>T	ENST00000261584.4	-	10	3172	c.3020T>A	c.(3019-3021)aTg>aAg	p.M1007K	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1007	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTCAGGGGGCATCAAAAATTG	0.398			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					4	123					0	0	0	0	T	23632776	A	T	23632776	3	4	466	1	0	0	0	0	1	0	0	0	11477	217	8	5	556	5	PALB2	16	23632776	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	11700834	23632776	66721977	121	90345											
SLC5A11	115584	broad.mit.edu	37	chr16	24902354	24902354	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccgggggtcctatttGgaatgtccatcccatccctc	5	11	11	14	2	0	0	0	0	0	0	5	1	4	1	5	4	0	0	5	4	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:24902354G>C	ENST00000347898.3	+	9	1451	c.829G>C	c.(829-831)Gga>Cga	p.G277R	SLC5A11_ENST00000545376.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000565769.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G242R|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G242R|SLC5A11_ENST00000539472.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000449109.2_Intron	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	277					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGTCCTATTTGGAATGTCCAT	0.562													66	180					0	0	0	0	C	24902354	G	C	24902354	3	2	466	1	0	0	0	0	1	0	0	0	14751	1349	47	4	859	4	SLC5A11	16	24902354	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	1269578	24902354	65452399	122	90346											
IL4R	3566	broad.mit.edu	37	chr16	27373640	27373640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacatgaaaagggatgaaGatcctcacaaggctgccaaa	18	5	9	9	0	1	3	1	2	0	1	2	4	2	4	2	2	2	1	2	2	6	0			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:27373640G>A	ENST00000395762.2	+	11	1226	c.967G>A	c.(967-969)Gat>Aat	p.D323N	IL4R_ENST00000543915.2_Missense_Mutation_p.D323N|IL4R_ENST00000170630.2_Missense_Mutation_p.D323N|IL4R_ENST00000380922.3_Missense_Mutation_p.D308N|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	323					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AAGGGATGAAGATCCTCACAA	0.493													29	122					0	0	0	0	A	27373640	G	A	27373640	3	1	466	1	0	0	0	0	1	0	0	0	7751	942	33	2	1019	2	IL4R	16	27373640	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	2471286	27373640	62981113	123	90347											
GTF3C1	2975	broad.mit.edu	37	chr16	27475887	27475887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggtcatctgggtgccctCggcgtcggtctccccattct	3	11	13	14	3	4	0	1	0	3	0	7	0	4	0	3	5	1	0	3	5	0	1	rs144086944	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:27475887C>T	ENST00000356183.4	-	34	5641	c.5626G>A	c.(5626-5628)Gag>Aag	p.E1876K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1876K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1876						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGGTGCCCTCGGCGTCGGTC	0.692													29	141					0	0	0	0	T	27475887	C	T	27475887	3	4	466	1	0	0	0	0	1	0	0	0	6922	893	31	1	719	1	GTF3C1	16	27475887	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	102247	27475887	62878866	124	90348											
CCDC101	112869	broad.mit.edu	37	chr16	28600485	28600485	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttggaagagaggcggattGgtgagtgggagagaacatgc	11	8	19	3	1	0	3	0	1	0	2	0	8	0	6	0	5	2	1	0	5	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:28600485G>C	ENST00000317058.3	+	5	476	c.289_splice	c.e5+1	p.A97_splice		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	97					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						GAGGCGGATTGGTGAGTGGGA	0.587													35	217					0	0	0	0	C	28600485	G	C	28600485	5	2	466	1	0	0	0	0	0	0	1	0	2760	1362	47	4	303	4	CCDC101	16	28600485	Splice_Site	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	1124598	28600485	61754268	125	90349											
NKD1	85407	broad.mit.edu	37	chr16	50659473	50659473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatgactttgacaacaaCggcaaggtcacccgagaggt	12	8	11	10	2	1	3	1	2	0	1	1	4	1	3	1	3	2	2	1	3	4	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:50659473C>T	ENST00000268459.3	+	6	668	c.444C>T	c.(442-444)aaC>aaT	p.N148N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	148	EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TTGACAACAACGGCAAGGTCA	0.622													17	35					0	0	0	0	T	50659473	C	T	50659473	2	4	466	1	0	0	0	0	0	0	0	1	10511	535	19	1		1	NKD1	16	50659473	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	22058988	50659473	39695280	126	90350											
CENPN	55839	broad.mit.edu	37	chr16	81053755	81053755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagtctggattcgaatTgcctggggaacacagtacac	12	9	11	9	1	1	0	0	0	1	0	2	3	1	2	1	3	4	2	1	3	4	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:81053755T>C	ENST00000305850.5	+	6	1195	c.405T>C	c.(403-405)atT>atC	p.I135I	RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000299572.5_Silent_p.I135I|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000428963.2_Silent_p.I135I|CENPN_ENST00000393335.3_Silent_p.I135I|CENPN_ENST00000439957.3_Silent_p.I115I	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	135					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						GGATTCGAATTGCCTGGGGAA	0.428													9	79					0	0	0	0	C	81053755	T	C	81053755	2	2	466	1	0	0	0	0	0	0	0	1	3267	1800	63	5		5	CENPN	16	81053755	Silent	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	30394282	81053755	9300998	127	90351											
FANCA	2175	broad.mit.edu	37	chr16	89805657	89805657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaacatgcaggaaggcctCttccctgatggccgcgtctt	8	9	11	13	2	2	1	0	1	2	0	3	2	3	2	3	3	3	2	3	3	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:89805657C>T	ENST00000389301.3	-	41	4081	c.4051G>A	c.(4051-4053)Gag>Aag	p.E1351K	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.E1351K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1351					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGAAGGCCTCTTCCCTGATG	0.527			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	47					0	0	0	0	T	89805657	C	T	89805657	3	4	466	1	0	0	0	0	1	0	0	0	5707	922	32	2	328	2	FANCA	16	89805657	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	8751902	89805657	549096	128	90352											
RPH3AL	9501	broad.mit.edu	37	chr17	171158	171158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctgaggtgctgcttcctCctctgcttctccgtctggta	2	14	12	13	1	3	1	0	1	3	0	6	1	5	1	3	3	3	5	3	3	1	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:171158C>A	ENST00000323434.8	-	4	723	c.126G>T	c.(124-126)agG>agT	p.R42S	RPH3AL_ENST00000536489.2_Missense_Mutation_p.R42S|RPH3AL_ENST00000331302.7_Missense_Mutation_p.R42S	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	42	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GCTGCTTCCTCCTCTGCTTCT	0.662													9	113					6.40141e-05	6.60696e-05	1	0	A	171158	C	A	171158	3	1	466	1	0	0	0	0	1	0	0	0	13637	854	30	2	849	2	RPH3AL	17	171158	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08		171158	81024052	129	90353											
PRPF8	10594	broad.mit.edu	37	chr17	1586992	1586992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctgcaattgctgccattttCgagctggaaaggcacctcag	9	10	10	12	1	1	0	1	0	0	0	2	2	1	1	3	2	4	4	3	2	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:1586992C>G	ENST00000572621.1	-	2	369	c.104G>C	c.(103-105)cGa>cCa	p.R35P	PRPF8_ENST00000304992.6_Missense_Mutation_p.R35P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	35						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGCCATTTTCGAGCTGGAAA	0.537													4	72					0	0	0	0	G	1586992	C	G	1586992	3	3	466	1	0	0	0	0	1	0	0	0	12655	884	31	3	7067	3	PRPF8	17	1586992	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	1415834	1586992	79608218	130	90354											
TRPV1	7442	broad.mit.edu	37	chr17	3481024	3481024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggctgaagtacagcacCacggtggccagcatgaacag	12	5	14	10	1	0	2	0	2	0	0	0	2	0	2	2	4	4	4	2	4	3	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:3481024C>T	ENST00000174621.6	-	10	1864	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	TRPV1_ENST00000576351.1_Silent_p.V517V|TRPV1_ENST00000425167.2_Silent_p.V538V|SHPK_ENST00000572705.1_Silent_p.V527V|TRPV1_ENST00000399759.3_Silent_p.V527V|TRPV1_ENST00000571088.1_Silent_p.V527V|TRPV1_ENST00000399756.4_Silent_p.V527V|TRPV1_ENST00000310522.5_Silent_p.V467V			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	527					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGTACAGCACCACGGTGGCCA	0.587													13	5					0	0	0	0	T	3481024	C	T	3481024	2	4	466	1	0	0	0	0	0	0	0	1	16690	581	21	4		4	TRPV1	17	3481024	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	1894032	3481024	77714186	131	90355											
ANKFY1	51479	broad.mit.edu	37	chr17	4086837	4086837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagctgggctgcgatcGtgtgcatgcctgggaaacaa	9	7	14	11	2	0	0	0	0	0	0	1	2	0	1	2	2	6	4	2	2	2	0			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:4086837G>A	ENST00000341657.4	-	14	1843	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	ANKFY1_ENST00000574367.1_Missense_Mutation_p.T603M|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.T645M	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	603						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGCTGCGATCGTGTGCATGCC	0.577													4	80					0	0	0	0	A	4086837	G	A	4086837	3	1	466	1	0	0	0	0	1	0	0	0	626	1145	40	1	1752	1	ANKFY1	17	4086837	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	605813	4086837	77108373	132	90356											
C17orf74	201243	broad.mit.edu	37	chr17	7330660	7330660	+	Silent	SNP	G	G	T																															atgtttgtcccactcagccgGaatccagggggcaatgccaa																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7330660G>T	ENST00000333870.3	+	3	1424	c.1350G>T	c.(1348-1350)cgG>cgT	p.R450R	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	450						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CACTCAGCCGGAATCCAGGGG	0.642													34	33					4.23469e-30	4.60292e-30	1	0	T	7330660	G	T	7330660	2	4	466	1	0	0	0	0	0	0	0	1	1895	1161	41	2		2	C17orf74	17	7330660	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	3243823	7330660	73864550	133	90357	1110	2									
C17orf74	201243	broad.mit.edu	37	chr17	7330661	7330661	+	Missense_Mutation	SNP	A	A	T																															tgtttgtcccactcagccggAatccagggggcaatgccaac																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7330661A>T	ENST00000333870.3	+	3	1425	c.1351A>T	c.(1351-1353)Aat>Tat	p.N451Y	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	451						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACTCAGCCGGAATCCAGGGGG	0.642													33	32					0	0	0	0	T	7330661	A	T	7330661	3	4	466	1	0	0	0	0	1	0	0	0	1895	246	9	5	1361	5	C17orf74	17	7330661	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	1	7330661	73864549	134	90358	1110	2									
TP53	7157	broad.mit.edu	37	chr17	7578234	7578234	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtgtttctgtcatccaaAtactccacacgcaaatttcc	13	12	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	4	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7578234A>T	ENST00000420246.2	-	6	747	c.615T>A	c.(613-615)taT>taA	p.Y205*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y205*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y205*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.Y205*(4)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		TGTCATCCAAATACTCCACAC	0.542		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)			31	34					0	0	0	0	T	7578234	A	T	7578234	4	4	466	1	0	0	0	0	0	1	0	0	16476	108	4	5	679	5	TP53	17	7578234	Nonsense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	247573	7578234	73616976	135	90359											
DNAH9	1770	broad.mit.edu	37	chr17	11840769	11840769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcagaaaagctcttccGcactgtgctggagctgcagc	10	8	10	13	1	2	1	1	0	1	1	3	2	3	2	2	1	6	5	2	1	3	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:11840769G>A	ENST00000262442.3	+	66	12658	c.12590G>A	c.(12589-12591)cGc>cAc	p.R4197H	DNAH9_ENST00000396001.2_Missense_Mutation_p.R509H|DNAH9_ENST00000454412.2_Missense_Mutation_p.R4121H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4197					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGCTCTTCCGCACTGTGCTG	0.602													4	83					0	0	0	0	A	11840769	G	A	11840769	3	1	466	1	0	0	0	0	1	0	0	0	4644	1087	38	1	12852	1	DNAH9	17	11840769	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	4262535	11840769	69354441	136	90360											
ZNF207	7756	broad.mit.edu	37	chr17	30685575	30685575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatacctggaagaacagaCatagagttggaaatatatgg	17	8	11	5	0	0	3	0	0	0	3	0	5	0	5	1	3	2	2	1	3	8	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:30685575C>G	ENST00000394670.4	+	3	391	c.222C>G	c.(220-222)gaC>gaG	p.D74E	ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000342555.6_Missense_Mutation_p.D77E|ZNF207_ENST00000577908.1_Missense_Mutation_p.D74E|ZNF207_ENST00000394673.2_Missense_Mutation_p.D74E|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000321233.6_Missense_Mutation_p.D74E	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAAGAACAGACATAGAGTTGG	0.328													11	133					0	0	0	0	G	30685575	C	G	30685575	3	3	466	1	0	0	0	0	1	0	0	0	17860	477	17	4	232	4	ZNF207	17	30685575	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	18844806	30685575	50509635	137	90361											
CACNA1G	8913	broad.mit.edu	37	chr17	48646541	48646541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcctttgatgacttcAtctttgccttctttgccgtg	5	17	8	11	1	4	2	2	2	2	0	4	2	4	2	3	1	2	0	3	1	0	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:48646541A>G	ENST00000352832.5	+	3	742	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	CACNA1G_ENST00000507896.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.I124V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.I124V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.I124V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	124					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATGACTTCATCTTTGCCTT	0.532													23	36					0	0	0	0	G	48646541	A	G	48646541	3	3	466	1	0	0	0	0	1	0	0	0	2569	217	8	5	380	5	CACNA1G	17	48646541	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	17960966	48646541	32548669	138	90362											
PPM1D	8493	broad.mit.edu	37	chr17	58734061	58734061	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacactagtgccatagtaatCtgcatctctccagaagtgga	13	10	8	10	0	2	1	0	0	2	1	4	2	3	2	2	1	3	2	2	1	5	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:58734061C>G	ENST00000305921.3	+	5	1351	c.1119C>G	c.(1117-1119)atC>atG	p.I373M		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	373	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CCATAGTAATCTGCATCTCTC	0.463													18	87					0	0	0	0	G	58734061	C	G	58734061	3	3	466	1	0	0	0	0	1	0	0	0	12413	903	32	2	1137	2	PPM1D	17	58734061	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	10087520	58734061	22461149	139	90363											
PPM1D	8493	broad.mit.edu	37	chr17	58740401	58740402	+	Frame_Shift_Ins	INS	-	-	T																															ggtgaattctaaggaccataINStacctgccctggttcgtagc																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:58740401_58740402insT	ENST00000305921.3	+	6	1538_1539	c.1306_1307insT	c.(1306-1308)accfs	p.T436fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	436					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAGGACCATATACCTGCCCTG	0.406											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	132	117	---	---	---	---					T	58740402	-	T	58740401	7	5	466	1	0	1	1	0	0	0	0	0	12413	449	16	0	1328	0	PPM1D	17	58740401	Frame_Shift_Ins	INS	-	TCGA-P3-A6T4-01A-11D-A34J-08	6340	58740401	22454809	140	90364											
SCN4A	6329	broad.mit.edu	37	chr17	62018476	62018476	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcctcgtgcttcctcttGagggtggtggtgatgggctc	3	13	14	11	1	1	2	0	2	1	0	5	2	3	2	3	4	1	2	3	4	0	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:62018476G>C	ENST00000435607.1	-	24	5242	c.5166C>G	c.(5164-5166)ctC>ctG	p.L1722L	SCN4A_ENST00000578147.1_Silent_p.L1722L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1722					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCTTCCTCTTGAGGGTGGTGG	0.602													23	136					0	0	0	0	C	62018476	G	C	62018476	2	2	466	1	0	0	0	0	0	0	0	1	14007	1277	45	2		2	SCN4A	17	62018476	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	3278075	62018476	19176734	141	90365											
KIAA0195	9772	broad.mit.edu	37	chr17	73487865	73487865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgactggcctggcgaggctCccaagccccccgagccctat	6	5	12	18	3	0	0	0	0	0	0	1	3	1	0	6	3	2	1	6	3	2	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:73487865C>T	ENST00000314256.7	+	14	1874	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	KIAA0195_ENST00000375248.5_Missense_Mutation_p.P504S|KIAA0195_ENST00000579208.1_Missense_Mutation_p.P145S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	494					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCGAGGCTCCCAAGCCCCC	0.627													6	67					0	0	0	0	T	73487865	C	T	73487865	3	4	466	1	0	0	0	0	1	0	0	0	8211	855	30	2	1530	2	KIAA0195	17	73487865	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	11469389	73487865	7707345	142	90366											
INSR	3643	broad.mit.edu	37	chr19	7117406	7117406	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgaattgccagcacatGcgcatgaggtcagtgctgcg	8	9	15	9	2	1	2	1	2	0	0	1	2	1	2	1	2	5	4	1	2	1	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:7117406G>T	ENST00000341500.5	-	21	3813	c.3774C>A	c.(3772-3774)cgC>cgA	p.R1258R	INSR_ENST00000302850.5_Silent_p.R1270R	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1270	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCAGCACATGCGCATGAGGT	0.607													31	42					8.4185e-14	8.93473e-14	1	0	T	7117406	G	T	7117406	2	4	466	1	0	0	0	0	0	0	0	1	7826	1306	46	4		4	INSR	19	7117406	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		7117406	52011577	143	90367											
TYK2	7297	broad.mit.edu	37	chr19	10461534	10461534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacacgctgaacactgaaggGgcctggccttggtacttctc	8	9	11	13	1	1	2	0	2	1	0	2	2	1	2	2	4	2	2	2	4	3	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:10461534G>A	ENST00000525621.1	-	25	4021	c.3540C>T	c.(3538-3540)gcC>gcT	p.A1180A	TYK2_ENST00000264818.6_Silent_p.A1180A|TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000524462.1_Silent_p.A995A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1180					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACACTGAAGGGGCCTGGCCTT	0.592													21	67					0	0	0	0	A	10461534	G	A	10461534	2	1	466	1	0	0	0	0	0	0	0	1	16906	1219	43	4		4	TYK2	19	10461534	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	3344128	10461534	48667449	144	90368											
ZNF439	90594	broad.mit.edu	37	chr19	11979383	11979383	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctggagaaagaccttatAaatataagatatatgggaaa	19	10	8	4	0	1	3	0	0	1	3	1	5	1	4	1	2	0	0	1	2	9	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:11979383A>G	ENST00000304030.2	+	3	1699	c.1499A>G	c.(1498-1500)tAa>tGa	p.*500*	ZNF439_ENST00000455282.1_Silent_p.*364*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAGACCTTATAAATATAAGAT	0.348													21	85					0	0	0	0	G	11979383	A	G	11979383	2	3	466	1	0	0	0	0	0	0	0	1	18006	369	13	5		5	ZNF439	19	11979383	Silent	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	1517849	11979383	47149600	145	90369											
FCHO1	23149	broad.mit.edu	37	chr19	17895634	17895634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggagtacggctaccggcCcggtgccacggctgtgccca	6	6	15	14	4	0	0	0	0	0	0	0	1	0	1	4	5	4	3	4	5	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:17895634C>T	ENST00000594202.1	+	26	2606	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	FCHO1_ENST00000600676.1_Missense_Mutation_p.P776L|FCHO1_ENST00000596536.1_Missense_Mutation_p.P776L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P776L|FCHO1_ENST00000539407.1_Missense_Mutation_p.P776L|FCHO1_ENST00000389133.4_Missense_Mutation_p.P776L|FCHO1_ENST00000595033.1_Missense_Mutation_p.P726L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P783L|FCHO1_ENST00000596951.1_Missense_Mutation_p.P776L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	776										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGCTACCGGCCCGGTGCCACG	0.677											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	94					0	0	0	0	T	17895634	C	T	17895634	3	4	466	1	0	0	0	0	1	0	0	0	5832	623	22	4	2417	4	FCHO1	19	17895634	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	5916251	17895634	41233349	146	90370											
ZNF540	163255	broad.mit.edu	37	chr19	38102635	38102635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctaaaaaaatgtcaactGatagaaaacgtccctctttt	15	13	4	9	1	3	2	1	1	2	1	5	2	4	2	1	0	2	0	1	0	8	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:38102635G>A	ENST00000592533.1	+	5	786	c.454G>A	c.(454-456)Gat>Aat	p.D152N	ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000316433.4_Missense_Mutation_p.D152N|ZNF540_ENST00000343599.5_Missense_Mutation_p.D152N|ZNF540_ENST00000589117.1_Missense_Mutation_p.D120N	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTCAACTGATAGAAAACG	0.363													26	148					0	0	0	0	A	38102635	G	A	38102635	3	1	466	1	0	0	0	0	1	0	0	0	18070	1290	45	2	468	2	ZNF540	19	38102635	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	20207001	38102635	21026348	147	90371											
ZNF607	84775	broad.mit.edu	37	chr19	38189766	38189766	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccttcccacattccttacaTttgtagggtttctcaccggt	6	15	7	13	1	1	0	1	0	1	0	4	0	3	0	4	2	1	2	4	2	2	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:38189766T>C	ENST00000355202.4	-	5	1861	c.1266A>G	c.(1264-1266)aaA>aaG	p.K422K	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.K421K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTCCTTACATTTGTAGGGTT	0.398													66	159					0	0	0	0	C	38189766	T	C	38189766	2	2	466	1	0	0	0	0	0	0	0	1	18128	1490	52	5		5	ZNF607	19	38189766	Silent	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	87131	38189766	20939217	148	90372											
SYCN	342898	broad.mit.edu	37	chr19	39694707	39694707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggtagggcaggtctgcgCccgactccagcgacagctcg	7	5	15	14	4	1	0	0	0	1	0	3	2	2	0	2	3	3	4	2	3	1	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:39694707C>T	ENST00000318438.6	-	1	199	c.188G>A	c.(187-189)gGc>gAc	p.G63D		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	63					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CAGGTCTGCGCCCGACTCCAG	0.667													8	53					0	0	0	0	T	39694707	C	T	39694707	3	4	466	1	0	0	0	0	1	0	0	0	15521	739	26	4	224	4	SYCN	19	39694707	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	1504941	39694707	19434276	149	90373											
GRIK5	2901	broad.mit.edu	37	chr19	42509942	42509942	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgggtgaggttgcagttGaggcgccggtggtattcgtt	5	13	17	6	3	1	2	0	2	1	0	2	2	1	2	1	5	1	5	1	5	1	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:42509942G>C	ENST00000262895.3	-	16	2195	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	GRIK5_ENST00000593562.1_Silent_p.L732L|GRIK5_ENST00000301218.4_Silent_p.L732L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	732						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGTTGCAGTTGAGGCGCCGGT	0.622													7	44					0	0	0	0	C	42509942	G	C	42509942	2	2	466	1	0	0	0	0	0	0	0	1	6827	1277	45	2		2	GRIK5	19	42509942	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	2815235	42509942	16619041	150	90374											
ZNF526	116115	broad.mit.edu	37	chr19	42728938	42728938	+	Frame_Shift_Del	DEL	A	A	-																															ggagctcctggcccaccaggAtgcccacctccgagagtctg																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:42728938delA	ENST00000301215.3	+	3	608	c.383delA	c.(382-384)gtfs	p.D128fs		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCACCAGGATGCCCACCTC	0.657													38	106	---	---	---	---					-	42728938	A	-	42728938	7	5	466	1	0	1	0	1	0	0	0	0	18062	333	12	0	385	0	ZNF526	19	42728938	Frame_Shift_Del	DEL	A	TCGA-P3-A6T4-01A-11D-A34J-08	218996	42728938	16400045	151	90375											
MARK4	57787	broad.mit.edu	37	chr19	45767945	45767945	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcccaaccattatagtgaAgctctttgaggtgattgaga	11	13	10	7	0	1	4	0	4	1	1	2	5	2	4	2	1	2	2	2	1	4	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:45767945A>T	ENST00000300843.4	+	5	656	c.359A>T	c.(358-360)aAg>aTg	p.K120M	MARK4_ENST00000262891.4_Missense_Mutation_p.K120M	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	120	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATTATAGTGAAGCTCTTTGAG	0.547													63	170					0	0	0	0	T	45767945	A	T	45767945	3	4	466	1	0	0	0	0	1	0	0	0	9384	72	3	5	377	5	MARK4	19	45767945	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	3039007	45767945	13361038	152	90376											
RASIP1	54922	broad.mit.edu	37	chr19	49228160	49228160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgccaggccccggcagctCtgcaccagctgtgaaagggt	7	5	14	15	3	1	1	0	1	1	0	1	1	1	1	4	3	3	4	4	3	1	0			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:49228160C>G	ENST00000222145.4	-	9	2389	c.2185G>C	c.(2185-2187)Gag>Cag	p.E729Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	729	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCCGGCAGCTCTGCACCAGCT	0.572													19	125					0	0	0	0	G	49228160	C	G	49228160	3	3	466	1	0	0	0	0	1	0	0	0	13160	922	32	2	722	2	RASIP1	19	49228160	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	3460215	49228160	9900823	153	90377											
ZNF808	388558	broad.mit.edu	37	chr19	53056417	53056417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagggcaaggcaatagagAagtgatccacacagggacat	17	4	12	8	0	0	2	0	1	0	1	1	4	1	3	1	3	1	2	1	3	5	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:53056417A>G	ENST00000359798.4	+	5	428	c.248A>G	c.(247-249)gAa>gGa	p.E83G		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCAATAGAGAAGTGATCCAC	0.363													74	354					0	0	0	0	G	53056417	A	G	53056417	3	3	466	1	0	0	0	0	1	0	0	0	18266	246	9	5	258	5	ZNF808	19	53056417	Missense_Mutation	SNP	A	TCGA-P3-A6T4-01A-11D-A34J-08	3828257	53056417	6072566	154	90378											
ZNF835	90485	broad.mit.edu	37	chr19	57176221	57176221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtagctgaaggccttccCgcagtccccgcatttccacg	8	8	9	16	3	0	1	0	1	0	0	3	1	3	1	5	1	1	4	5	1	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:57176221C>T	ENST00000537055.2	-	2	577	c.346G>A	c.(346-348)Ggg>Agg	p.G116R		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCCTTCCCGCAGTCCCCG	0.637													40	134					0	0	0	0	T	57176221	C	T	57176221	3	4	466	1	0	0	0	0	1	0	0	0	18279	652	23	1	1269	1	ZNF835	19	57176221	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	4119804	57176221	1952762	155	90379											
ZIK1	284307	broad.mit.edu	37	chr19	58102053	58102053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcggagaatccacaccggaGaaaggccttatgagtgcagc	13	6	12	10	2	0	3	0	1	0	2	2	5	1	3	3	3	2	1	3	3	3	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:58102053G>A	ENST00000597850.1	+	4	1089	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	ZIK1_ENST00000536878.2_Missense_Mutation_p.E279K|ZIK1_ENST00000599456.1_Missense_Mutation_p.E237K|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACACCGGAGAAAGGCCTTA	0.458													22	113					0	0	0	0	A	58102053	G	A	58102053	3	1	466	1	0	0	0	0	1	0	0	0	17778	943	33	2	888	2	ZIK1	19	58102053	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	925832	58102053	1026930	156	90380											
JAG1	182	broad.mit.edu	37	chr20	10630267	10630267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttacacaaggtttggcCtcacattcatttgcatctga	9	14	8	10	1	3	1	2	1	1	0	3	1	3	1	1	2	2	3	1	2	2	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:10630267C>G	ENST00000254958.5	-	10	1766	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D	JAG1_ENST00000423891.2_Missense_Mutation_p.E258D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	417	EGF-like 6; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AAGGTTTGGCCTCACATTCAT	0.468									Alagille Syndrome				10	36					0	0	0	0	G	10630267	C	G	10630267	3	3	466	1	0	0	0	0	1	0	0	0	7987	680	24	4	2473	4	JAG1	20	10630267	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08		10630267	52395253	157	90381											
SEC23B	10483	broad.mit.edu	37	chr20	18506492	18506492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcttcttggggagctacaGagggacccatggccagtaac	10	8	13	10	0	2	1	0	0	2	1	2	4	2	3	2	4	3	2	2	4	2	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:18506492G>A	ENST00000336714.3	+	7	1182	c.750G>A	c.(748-750)caG>caA	p.Q250Q	SEC23B_ENST00000262544.2_Silent_p.Q250Q|SEC23B_ENST00000377475.3_Silent_p.Q250Q|SEC23B_ENST00000377465.1_Silent_p.Q250Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGGAGCTACAGAGGGACCCAT	0.448													9	154					0	0	0	0	A	18506492	G	A	18506492	2	1	466	1	0	0	0	0	0	0	0	1	14079	933	33	2		2	SEC23B	20	18506492	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	7876225	18506492	44519028	158	90382											
GZF1	64412	broad.mit.edu	37	chr20	23346091	23346091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacacctgcggccagaccttCgccaaccgctgcaacctgaa	10	5	9	17	3	0	2	0	1	0	1	1	3	0	2	6	1	4	2	6	1	3	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:23346091C>T	ENST00000338121.5	+	2	1148	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Silent_p.F357F|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	357					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCCAGACCTTCGCCAACCGCT	0.622													13	107					0	0	0	0	T	23346091	C	T	23346091	2	4	466	1	0	0	0	0	0	0	0	1	6964	883	31	1		1	GZF1	20	23346091	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	4839599	23346091	39679429	159	90383											
NCOA6	23054	broad.mit.edu	37	chr20	33329072	33329072	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacctgaattattgaggatGaattgataaagacaggtgta	16	12	10	3	0	0	5	0	4	0	1	0	6	0	6	1	2	1	1	1	2	7	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:33329072G>T	ENST00000374796.2	-	12	7558	c.4988C>A	c.(4987-4989)tCa>tAa	p.S1663*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.S1663*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1663	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TATTGAGGATGAATTGATAAA	0.488													35	66					1.06647e-15	1.14265e-15	1	0	T	33329072	G	T	33329072	4	4	466	1	0	0	0	0	0	1	0	0	10303	1294	45	2	1223	2	NCOA6	20	33329072	Nonsense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	9982981	33329072	29696448	160	90384											
WFDC10B	280664	broad.mit.edu	37	chr20	44314553	44314553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctactctgcatcctcaTcttgtcacggtatcctccct	6	14	4	17	1	5	0	3	0	2	0	8	0	8	0	4	1	2	2	4	1	2	3	rs142448374		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:44314553T>A	ENST00000330523.5	-	3	309	c.79A>T	c.(79-81)Atg>Ttg	p.M27L	WFDC10B_ENST00000335769.2_Intron	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	27						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TGCATCCTCATCTTGTCACGG	0.577													12	26					0	0	0	0	A	44314553	T	A	44314553	3	1	466	1	0	0	0	0	1	0	0	0	17444	1435	50	5	150	5	WFDC10B	20	44314553	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	10985481	44314553	18710967	161	90385											
SETD4	54093	broad.mit.edu	37	chr21	37429429	37429429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaacaagcaggcgctaaGtttgaatcttgaaacttcct	14	10	9	8	1	1	2	0	2	1	0	2	3	2	3	1	2	3	3	1	2	6	4			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr21:37429429G>A	ENST00000399215.1	-	2	1519	c.147C>T	c.(145-147)aaC>aaT	p.N49N	SETD4_ENST00000399212.1_Silent_p.N25N|SETD4_ENST00000399207.1_Silent_p.N49N|SETD4_ENST00000332131.4_Silent_p.N49N|SETD4_ENST00000399201.1_Silent_p.N25N|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_Silent_p.N49N|SETD4_ENST00000399205.1_Silent_p.N25N			Q9NVD3	SETD4_HUMAN	SET domain containing 4	49	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CAGGCGCTAAGTTTGAATCTT	0.493													35	132					0	0	0	0	A	37429429	G	A	37429429	2	1	466	1	0	0	0	0	0	0	0	1	14220	1020	36	4		4	SETD4	21	37429429	Silent	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08		37429429	10700466	162	90386											
HIRA	7290	broad.mit.edu	37	chr22	19343784	19343784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgtagagactcttctttCaccacaaccacctgtctgtg	9	12	8	12	0	4	1	1	0	3	1	4	3	4	1	3	0	1	1	3	0	2	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19343784C>T	ENST00000263208.5	-	20	2680	c.2424G>A	c.(2422-2424)gtG>gtA	p.V808V	HIRA_ENST00000546308.1_Silent_p.V764V|HIRA_ENST00000541063.1_Silent_p.V764V|HIRA_ENST00000340170.4_Silent_p.V601V	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	808	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.|Poly-Val.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACTCTTCTTTCACCACAACCA	0.527													26	156					0	0	0	0	T	19343784	C	T	19343784	2	4	466	1	0	0	0	0	0	0	0	1	7170	813	29	2		2	HIRA	22	19343784	Silent	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08		19343784	31960782	163	90387											
HIRA	7290	broad.mit.edu	37	chr22	19343812	19343812	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtctgtgaacatccCtaggagggagacagggaaca	12	6	12	11	0	1	2	0	1	1	1	2	5	2	4	3	3	2	0	3	3	3	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19343812C>G	ENST00000263208.5	-	20	2653		c.e20-1		HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTGAACATCCCTAGGAGGGAG	0.547													20	139					0	0	0	0	G	19343812	C	G	19343812	5	3	466	1	0	0	0	0	0	0	1	0	7170	695	24	4	681	4	HIRA	22	19343812	Splice_Site	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	28	19343812	31960754	164	90388											
SEPT5	5413	broad.mit.edu	37	chr22	19706319	19706319	+	Frame_Shift_Del	DEL	C	C	-																															gcagctgctgtcgccgcggaCccaggcccagaggcggctca																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19706319delC	ENST00000438754.2	+	1	339	c.59delC	c.(58-60)acfs	p.T20fs	SEPT5_ENST00000455784.2_Intron|SEPT5_ENST00000406395.1_Intron|SEPT5_ENST00000383045.3_Frame_Shift_Del_p.T20fs|SEPT5_ENST00000490204.1_3'UTR	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	0					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCGCCGCGGACCCAGGCCCAG	0.761													2	4	---	---	---	---					-	19706319	C	-	19706319	7	5	466	1	0	1	0	1	0	0	0	0	14154	522	18	0		0	SEPT5	22	19706319	Frame_Shift_Del	DEL	C	TCGA-P3-A6T4-01A-11D-A34J-08	362507	19706319	31598247	165	90389											
SEZ6L	23544	broad.mit.edu	37	chr22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggtggatcactcgacccGcttaatttcggatcctgtgc	8	11	11	11	3	1	1	1	0	0	1	4	4	2	3	2	3	1	1	2	3	1	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:26747060G>A	ENST00000529632.2	+	12	2646	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R817H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	817	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547													4	171					0	0	0	0	A	26747060	G	A	26747060	3	1	466	1	0	0	0	0	1	0	0	0	14230	1087	38	1	2496	1	SEZ6L	22	26747060	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	7040741	26747060	24557506	166	90390											
DEPDC5	9681	broad.mit.edu	37	chr22	32302245	32302245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagttctcagggcagcagcGgcggcggcggaactccacca	9	4	14	14	4	1	0	1	0	1	0	3	1	2	1	2	5	3	3	2	5	2	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:32302245G>A	ENST00000400246.1	+	42	4655	c.4513G>A	c.(4513-4515)Ggc>Agc	p.G1505S	DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425Q|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342Q|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1516Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1505S|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1503Q			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction			p.R1494Q(1)|p.R1425Q(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGCAGCAGCGGCGGCGGCGG	0.607													4	84					0	0	0	0	A	32302245	G	A	32302245	3	1	466	1	0	0	0	0	1	0	0	0	4479	1116	39	1	4731	1	DEPDC5	22	32302245	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	5555185	32302245	19002321	167	90391											
MFNG	4242	broad.mit.edu	37	chr22	37876266	37876266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccaagaaggtgtcgaactCagcagccatcttgcaggaca	12	6	12	11	1	2	1	1	0	1	1	3	3	2	2	2	3	4	2	2	3	3	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:37876266C>T	ENST00000356998.3	-	3	599	c.376G>A	c.(376-378)Gag>Aag	p.E126K	MFNG_ENST00000416983.3_Missense_Mutation_p.E112K	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	126					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GTGTCGAACTCAGCAGCCATC	0.597													21	61					0	0	0	0	T	37876266	C	T	37876266	3	4	466	1	0	0	0	0	1	0	0	0	9594	835	29	2	613	2	MFNG	22	37876266	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	5574021	37876266	13428300	168	90392											
TRIOBP	11078	broad.mit.edu	37	chr22	38120035	38120035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacaatcccagagcctcctCtcccagtagagctacacgag	11	6	9	15	1	1	2	0	0	1	2	4	4	3	3	4	1	3	2	4	1	3	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:38120035C>T	ENST00000406386.3	+	7	1727	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGCCTCCTCTCCCAGTAGA	0.592													6	193					0	0	0	0	T	38120035	C	T	38120035	3	4	466	1	0	0	0	0	1	0	0	0	16648	913	32	2	1490	2	TRIOBP	22	38120035	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	243769	38120035	13184531	169	90393											
TAB1	10454	broad.mit.edu	37	chr22	39812816	39812816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccttcgatgtggtggagagGagcttcctggagtccattga	7	11	15	8	1	0	2	0	1	0	1	3	6	2	4	3	4	1	1	3	4	0	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:39812816G>C	ENST00000216160.6	+	4	407	c.345G>C	c.(343-345)agG>agC	p.R115S	TAB1_ENST00000331454.3_Missense_Mutation_p.R115S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	115	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGGTGGAGAGGAGCTTCCTGG	0.552													19	115					0	0	0	0	C	39812816	G	C	39812816	3	2	466	1	0	0	0	0	1	0	0	0	15586	1165	41	2	359	2	TAB1	22	39812816	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	1692781	39812816	11491750	170	90394											
EP300	2033	broad.mit.edu	37	chr22	41566478	41566478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatcttccattgccatcCtcctgaccagaagataccca	11	12	4	14	0	1	3	0	1	1	2	4	3	4	3	6	0	2	0	6	0	4	5			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:41566478C>T	ENST00000263253.7	+	27	5574	c.4355C>T	c.(4354-4356)cCt>cTt	p.P1452L	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1452					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.P1452H(1)|p.P1452L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATTGCCATCCTCCTGACCAG	0.433			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				84	75					0	0	0	0	T	41566478	C	T	41566478	3	4	466	1	0	0	0	0	1	0	0	0	5186	681	24	4	4461	4	EP300	22	41566478	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	1753662	41566478	9738088	171	90395											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	10	5	12	14	2	0	0	0	0	0	0	0	1	0	1	3	3	3	4	3	3	2	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577													4	137					0	0	0	0	A	42071074	G	A	42071074	3	1	466	1	0	0	0	0	1	0	0	0	10480	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	504596	42071074	9233492	172	90396											
AR	367	broad.mit.edu	37	chrX	66765025	66765025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggctgggaagggtctaccctCggccgccgtccaagacctac	7	6	13	15	3	1	1	0	0	1	1	3	2	2	2	5	4	2	1	5	4	4	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:66765025C>G	ENST00000374690.3	+	1	561	c.37C>G	c.(37-39)Cgg>Ggg	p.R13G	AR_ENST00000396044.3_Missense_Mutation_p.R13G|AR_ENST00000504326.1_Missense_Mutation_p.R13G|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	13	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGTCTACCCTCGGCCGCCGTC	0.607									Androgen Insensitivity Syndrome				10	28					0	0	0	0	G	66765025	C	G	66765025	3	3	466	1	0	0	0	0	1	0	0	0	838	875	31	3	39	3	AR	23	66765025	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08		66765025	88505535	173	90397											
ESX1	80712	broad.mit.edu	37	chrX	103495339	103495339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataggtgctatgggtggcCtgggtggcatagggaccatg	7	9	18	7	0	0	0	0	0	0	0	0	1	0	1	2	6	1	3	2	6	3	3			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:103495339C>T	ENST00000372588.4	-	4	874	c.791G>A	c.(790-792)aGg>aAg	p.R264K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	264	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						tatgggtggcctgggtggcat	0.657													95	34					0	0	0	0	T	103495339	C	T	103495339	3	4	466	1	0	0	0	0	1	0	0	0	5301	681	24	4	433	4	ESX1	23	103495339	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	36730314	103495339	51775221	174	90398											
MUM1L1	139221	broad.mit.edu	37	chrX	105450867	105450867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgactacagagttagaatagGttgtggttctttcacgggct	9	14	12	6	1	2	3	1	1	1	2	2	3	2	3	0	3	1	4	0	3	4	6			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:105450867G>C	ENST00000337685.2	+	5	2227	c.1442G>C	c.(1441-1443)gGt>gCt	p.G481A	MUM1L1_ENST00000372552.1_Missense_Mutation_p.G481A|MUM1L1_ENST00000357175.2_Missense_Mutation_p.G481A	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	481										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTTAGAATAGGTTGTGGTTCT	0.383													11	51					0	0	0	0	C	105450867	G	C	105450867	3	2	466	1	0	0	0	0	1	0	0	0	10056	1261	44	4	1444	4	MUM1L1	23	105450867	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	1955528	105450867	49819693	175	90399											
RGAG1	57529	broad.mit.edu	37	chrX	109695358	109695358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccacgccactgaggagagctCcaacttctggagcaatgtcc	10	7	10	14	1	1	2	0	1	1	1	3	4	3	3	4	2	3	2	4	2	2	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:109695358C>G	ENST00000465301.2	+	3	1759	c.1513C>G	c.(1513-1515)Cca>Gca	p.P505A	RGAG1_ENST00000540313.1_Missense_Mutation_p.P505A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	505										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAGGAGAGCTCCAACTTCTGG	0.512													5	237					0	0	0	0	G	109695358	C	G	109695358	3	3	466	1	0	0	0	0	1	0	0	0	13356	855	30	2	1515	2	RGAG1	23	109695358	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	4244491	109695358	45575202	176	90400											
DOCK11	139818	broad.mit.edu	37	chrX	117707860	117707860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagacctgaatcccccatCtgtccgtgaaatgctgtggg	8	11	11	11	1	1	3	0	2	1	1	3	3	3	3	4	1	1	2	4	1	3	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:117707860C>T	ENST00000276204.6	+	12	1342	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	DOCK11_ENST00000276202.7_Missense_Mutation_p.S423F			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	423					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AATCCCCCATCTGTCCGTGAA	0.453													135	57					0	0	0	0	T	117707860	C	T	117707860	3	4	466	1	0	0	0	0	1	0	0	0	4722	913	32	2	1314	2	DOCK11	23	117707860	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	8012502	117707860	37562700	177	90401											
SASH3	54440	broad.mit.edu	37	chrX	128927005	128927005	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatggctaccagacacTggaagacttcaaagagctgc	13	7	10	11	0	2	3	2	0	0	3	2	4	2	4	1	2	3	3	1	2	4	2			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:128927005T>G	ENST00000356892.3	+	7	956	c.842T>G	c.(841-843)cTg>cGg	p.L281R		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	281	SAM.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TACCAGACACTGGAAGACTTC	0.597													57	29					0	0	0	0	G	128927005	T	G	128927005	3	3	466	1	0	0	0	0	1	0	0	0	13935	1580	55	5	868	5	SASH3	23	128927005	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	11219145	128927005	26343555	178	90402											
SLC25A14	9016	broad.mit.edu	37	chrX	129499634	129499634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatctctataagggcactgTtgatggtattttaaaggtaa	12	14	11	4	0	1	1	0	1	1	0	2	2	1	2	0	4	0	4	0	4	6	7			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:129499634T>C	ENST00000218197.5	+	8	1066	c.839T>C	c.(838-840)gTt>gCt	p.V280A	SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.V277A|SLC25A14_ENST00000339231.3_Missense_Mutation_p.V308A	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	280					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AAGGGCACTGTTGATGGTATT	0.443													17	229					0	0	0	0	C	129499634	T	C	129499634	3	2	466	1	0	0	0	0	1	0	0	0	14564	1725	60	5	869	5	SLC25A14	23	129499634	Missense_Mutation	SNP	T	TCGA-P3-A6T4-01A-11D-A34J-08	572629	129499634	25770926	179	90403											
GPR101	83550	broad.mit.edu	37	chrX	136113301	136113301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatggagcagagagcattgCgctcatcaaaggcagcctgg	11	7	13	10	1	3	1	3	0	0	1	3	3	3	2	1	3	4	4	1	3	1	1			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:136113301C>T	ENST00000298110.1	-	1	532	c.533G>A	c.(532-534)cGc>cAc	p.R178H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GAGAGCATTGCGCTCATCAAA	0.587													33	14					0	0	0	0	T	136113301	C	T	136113301	3	4	466	1	0	0	0	0	1	0	0	0	6671	768	27	1	996	1	GPR101	23	136113301	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	6613667	136113301	19157259	180	90404											
GABRE	2564	broad.mit.edu	37	chrX	151123412	151123412	+	Missense_Mutation	SNP	G	G	A																															agggctacctgggctaggggGctgctgggctgagcaagacg																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:151123412G>A	ENST00000370328.3	-	9	1335	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	428					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTAGGGGGCTGCTGGGCT	0.607													16	6					0	0	0	0	A	151123412	G	A	151123412	3	1	466	1	0	0	0	0	1	0	0	0	6218	1203	42	4	242	4	GABRE	23	151123412	Missense_Mutation	SNP	G	TCGA-P3-A6T4-01A-11D-A34J-08	15010111	151123412	4147148	181	90405	1111	2									
GABRE	2564	broad.mit.edu	37	chrX	151123413	151123413	+	Missense_Mutation	SNP	C	C	G																															gggctacctgggctagggggCtgctgggctgagcaagacgg																										TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:151123413C>G	ENST00000370328.3	-	9	1334	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	427					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTAGGGGGCTGCTGGGCTG	0.607													15	6					0	0	0	0	G	151123413	C	G	151123413	3	3	466	1	0	0	0	0	1	0	0	0	6218	796	28	4	243	4	GABRE	23	151123413	Missense_Mutation	SNP	C	TCGA-P3-A6T4-01A-11D-A34J-08	1	151123413	4147147	182	90406	1111	2									
PLCH2	9651	broad.mit.edu	37	chr1	2411641	2411641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggctgaagcagacgtttGacgaggccgacaagaacggg	12	5	16	8	4	0	4	0	2	0	2	0	6	0	4	1	3	2	3	1	3	3	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:2411641G>C	ENST00000449969.1	+	4	615	c.454G>C	c.(454-456)Gac>Cac	p.D152H	PLCH2_ENST00000419816.2_Missense_Mutation_p.D179H|PLCH2_ENST00000378488.3_Missense_Mutation_p.D179H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.D179H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	179	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCAGACGTTTGACGAGGCCGA	0.617													45	156					0	0	0	0	C	2411641	G	C	2411641	3	2	467	1	0	0	0	0	1	0	0	0	12110	1290	45	2	549	2	PLCH2	1	2411641	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		2411641	246838980	1	90407											
VPS13D	55187	broad.mit.edu	37	chr1	12418524	12418524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccccacagctgcacgatGagaatcggaagggggattca	11	6	13	11	2	1	1	1	1	0	1	2	5	1	3	2	3	3	2	2	3	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:12418524G>A	ENST00000358136.3	+	50	10138	c.10008G>A	c.(10006-10008)atG>atA	p.M3336I	VPS13D_ENST00000356315.4_Missense_Mutation_p.M3311I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3335					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGCACGATGAGAATCGGAA	0.488													16	110					0	0	0	0	A	12418524	G	A	12418524	3	1	467	1	0	0	0	0	1	0	0	0	17288	1290	45	2	10202	2	VPS13D	1	12418524	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	10006883	12418524	236832097	2	90408											
EIF4G3	8672	broad.mit.edu	37	chr1	21268505	21268505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttcatttgttggtaaaGggtctgatgtttctgtgcaa	8	18	10	5	0	3	1	1	1	2	0	3	1	3	1	0	2	1	4	0	2	3	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:21268505G>T	ENST00000602326.1	-	12	1575	c.992C>A	c.(991-993)cCt>cAt	p.P331H	EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P325H|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P325H|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P331H|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P336H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P325H	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	325					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGTTGGTAAAGGGTCTGATGT	0.383													22	280					1.9806e-07	2.08325e-07	1	0	T	21268505	G	T	21268505	3	4	467	1	0	0	0	0	1	0	0	0	5076	1000	35	4	3879	4	EIF4G3	1	21268505	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	8849981	21268505	227982116	3	90409											
HNRNPR	10236	broad.mit.edu	37	chr1	23645003	23645003	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacttctggatctggttcTtccacagggtcagcccattc	7	13	9	12	0	4	1	1	1	3	0	6	2	5	2	2	3	1	1	2	3	0	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:23645003T>C	ENST00000478691.1	-	7	967	c.696A>G	c.(694-696)gaA>gaG	p.E232E	HNRNPR_ENST00000427764.2_Silent_p.E292E|HNRNPR_ENST00000374612.1_Silent_p.E330E|HNRNPR_ENST00000374616.3_Silent_p.E333E|HNRNPR_ENST00000302271.6_Silent_p.E330E|HNRNPR_ENST00000426846.2_Silent_p.E170E|HNRNPR_ENST00000606561.1_Silent_p.E191E	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	330	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GATCTGGTTCTTCCACAGGGT	0.428													76	52					0	0	0	0	C	23645003	T	C	23645003	2	2	467	1	0	0	0	0	0	0	0	1	7322	1606	56	5		5	HNRNPR	1	23645003	Silent	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	2376498	23645003	225605618	4	90410											
LYPLA2	11313	broad.mit.edu	37	chr1	24119250	24119250	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcgggaaacggccgcGgtaagggtcccctttcaccc	7	6	14	14	4	1	1	1	1	0	0	2	2	2	2	4	4	2	2	4	4	2	2	rs2232978		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:24119250G>A	ENST00000374514.3	+	2	385	c.78_splice	c.e2+1	p.A26_splice	LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374505.2_Splice_Site_p.A26_splice|LYPLA2_ENST00000400061.1_Splice_Site_p.A26_splice|LYPLA2_ENST00000374502.3_Splice_Site_p.A26_splice|LYPLA2_ENST00000374503.3_Splice_Site_p.A26_splice	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	26					fatty acid metabolic process	cytoplasm	hydrolase activity	p.A26A(1)		endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AAACGGCCGCGGTAAGGGTCC	0.642													17	142					0	0	0	0	A	24119250	G	A	24119250	5	1	467	1	0	0	0	0	0	0	1	0	9182	1130	39	1	80	1	LYPLA2	1	24119250	Splice_Site	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	474247	24119250	225131371	5	90411											
NUDC	10726	broad.mit.edu	37	chr1	27269257	27269257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctggacccagaccctgtCggagctggacgtgagtgtca	7	7	14	13	3	1	2	1	1	0	1	2	5	1	5	3	3	1	2	3	3	0	0	rs146502618		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:27269257C>T	ENST00000321265.5	+	5	659	c.536C>T	c.(535-537)tCg>tTg	p.S179L		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	179	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CAGACCCTGTCGGAGCTGGAC	0.577													4	66					0	0	0	0	T	27269257	C	T	27269257	3	4	467	1	0	0	0	0	1	0	0	0	10792	893	31	1	554	1	NUDC	1	27269257	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3150007	27269257	221981364	6	90412											
GMEB1	10691	broad.mit.edu	37	chr1	29040842	29040842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatattccagtggccaccCtcagccagggctccagtcct	8	8	9	16	0	1	0	1	0	0	0	4	0	4	0	6	2	1	2	6	2	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:29040842C>A	ENST00000373816.1	+	10	1387	c.1249C>A	c.(1249-1251)Ctc>Atc	p.L417I	GMEB1_ENST00000294409.2_Missense_Mutation_p.L427I|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.L417I	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGCCACCCTCAGCCAGGG	0.577													4	68					0.00909568	0.00912212	1	0	A	29040842	C	A	29040842	3	1	467	1	0	0	0	0	1	0	0	0	6538	681	24	4	1313	4	GMEB1	1	29040842	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1771585	29040842	220209779	7	90413											
BAI2	576	broad.mit.edu	37	chr1	32198168	32198168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaggggagtcttcgctctCatcagcccggcacaccccca	7	7	10	17	2	4	0	3	0	2	0	6	1	4	1	3	3	1	2	3	3	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:32198168C>T	ENST00000373658.3	-	27	4011	c.3670G>A	c.(3670-3672)Gag>Aag	p.E1224K	BAI2_ENST00000398538.1_Missense_Mutation_p.E1212K|BAI2_ENST00000527361.1_Missense_Mutation_p.E1191K|BAI2_ENST00000257070.4_Missense_Mutation_p.E1191K|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398556.3_Missense_Mutation_p.E1139K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1224K|BAI2_ENST00000440175.2_Missense_Mutation_p.E833K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1157K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1124K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1224					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCTTCGCTCTCATCAGCCCGG	0.667													4	58					0	0	0	0	T	32198168	C	T	32198168	3	4	467	1	0	0	0	0	1	0	0	0	1303	835	29	2	1115	2	BAI2	1	32198168	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3157326	32198168	217052453	8	90414											
PHC2	1912	broad.mit.edu	37	chr1	33837995	33837995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcggcgtacatctgCtgcaggtactgagcggccgt	5	9	16	11	4	1	1	0	1	1	0	1	1	1	1	1	4	6	5	1	4	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:33837995C>T	ENST00000257118.5	-	2	281	c.228G>A	c.(226-228)caG>caA	p.Q76Q	PHC2_ENST00000419414.2_Silent_p.Q76Q|PHC2_ENST00000431992.1_Silent_p.Q76Q|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	76	Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGTACATCTGCTGCAGGTACT	0.672													6	26					0	0	0	0	T	33837995	C	T	33837995	2	4	467	1	0	0	0	0	0	0	0	1	11889	796	28	4		4	PHC2	1	33837995	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1639827	33837995	215412626	9	90415											
TFAP2E	339488	broad.mit.edu	37	chr1	36054038	36054038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgctccgtgcccggcCggctttcactgctcagctca	3	12	9	17	3	5	0	3	0	2	0	6	0	6	0	3	2	4	4	3	2	0	2	rs148010311		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:36054038C>T	ENST00000373235.3	+	4	878	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	224						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CGTGCCCGGCCGGCTTTCACT	0.647													9	179					0	0	0	0	T	36054038	C	T	36054038	3	4	467	1	0	0	0	0	1	0	0	0	15885	643	23	1	684	1	TFAP2E	1	36054038	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2216043	36054038	213196583	10	90416											
ECHDC2	55268	broad.mit.edu	37	chr1	53362207	53362207	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggggtcatttgccaacaaaTttgggagtccgcttctccct	7	12	11	11	1	2	0	1	0	1	0	4	1	3	1	3	3	2	1	3	3	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:53362207T>C	ENST00000536120.1	-	13	1543	c.726A>G	c.(724-726)aaA>aaG	p.K242K	ECHDC2_ENST00000371522.4_Silent_p.K288K|ECHDC2_ENST00000358358.5_Silent_p.K257K			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	288					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TGCCAACAAATTTGGGAGTCC	0.502													4	139					0	0	0	0	C	53362207	T	C	53362207	2	2	467	1	0	0	0	0	0	0	0	1	4930	1490	52	5		5	ECHDC2	1	53362207	Silent	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	17308169	53362207	195888414	11	90417											
KANK4	163782	broad.mit.edu	37	chr1	62739257	62739257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagggcctccttcctgttCagtgcctgcttcttcaatcc	4	14	8	15	0	3	1	2	1	1	0	6	1	6	1	5	1	2	2	5	1	1	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:62739257C>T	ENST00000371153.4	-	3	1897	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	507										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTTCCTGTTCAGTGCCTGCT	0.597													11	73					0	0	0	0	T	62739257	C	T	62739257	3	4	467	1	0	0	0	0	1	0	0	0	8032	835	29	2	1500	2	KANK4	1	62739257	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	9377050	62739257	186511364	12	90418											
LRRC7	57554	broad.mit.edu	37	chr1	70488940	70488940	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagatatgcccgtcccccaGaatgacccacagctggcatg	11	6	9	15	1	0	3	0	1	0	2	1	3	1	3	4	1	2	2	4	1	3	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:70488940G>A	ENST00000310961.5	+	18	1996	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.Q521Q			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	521						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGTCCCCCAGAATGACCCAC	0.562													8	71					0	0	0	0	A	70488940	G	A	70488940	2	1	467	1	0	0	0	0	0	0	0	1	9084	933	33	2		2	LRRC7	1	70488940	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	7749683	70488940	178761681	13	90419											
BCAS2	10286	broad.mit.edu	37	chr1	115123922	115123922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctcaagacatacttacttCaaaggcagaataatccgggg	14	8	10	9	1	2	2	2	0	0	2	3	2	3	2	1	4	2	2	1	4	6	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:115123922C>G	ENST00000369541.3	-	2	231	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	62					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATACTTACTTCAAAGGCAGAA	0.453													39	205					0	0	0	0	G	115123922	C	G	115123922	3	3	467	1	0	0	0	0	1	0	0	0	1355	835	29	2	517	2	BCAS2	1	115123922	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	44634982	115123922	134126699	14	90420											
AMPD1	270	broad.mit.edu	37	chr1	115219972	115219972	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgatgggcaggtacatacTagatcctgggaacctggatc	10	10	12	9	0	1	2	0	1	1	1	3	4	2	4	2	4	3	2	2	4	4	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:115219972T>C	ENST00000369538.3	-	9	1522	c.1475_splice	c.e9+1	p.Y492_splice	AMPD1_ENST00000353928.6_Splice_Site_p.Y463_splice|AMPD1_ENST00000520113.2_Splice_Site_p.Y496_splice	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	463					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGGTACATACTAGATCCTGGG	0.507													17	58					0	0	0	0	C	115219972	T	C	115219972	5	2	467	1	0	0	0	0	0	0	1	0	585	1536	53	5	883	5	AMPD1	1	115219972	Splice_Site	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	96050	115219972	134030649	15	90421											
ATP1A1	476	broad.mit.edu	37	chr1	116943570	116943570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aattcacctgttgggcctccGagtggactgggatgaccgct	7	10	13	11	2	1	1	1	1	0	0	2	4	2	3	4	3	0	2	4	3	1	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:116943570G>C	ENST00000537345.1	+	19	3023	c.2660G>C	c.(2659-2661)cGa>cCa	p.R887P	ATP1A1_ENST00000295598.5_Missense_Mutation_p.R887P|ATP1A1_ENST00000369496.4_Missense_Mutation_p.R856P	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	887					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTGGGCCTCCGAGTGGACTGG	0.552													15	60					0	0	0	0	C	116943570	G	C	116943570	3	2	467	1	0	0	0	0	1	0	0	0	1132	1058	37	3	2750	3	ATP1A1	1	116943570	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1723598	116943570	132307051	16	90422											
ATP1A1	476	broad.mit.edu	37	chr1	116943599	116943599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatgaccgctggatcaacGatgtggaagacagctacggg	11	6	16	8	3	1	2	1	1	0	1	1	6	1	5	1	4	3	2	1	4	3	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:116943599G>A	ENST00000537345.1	+	19	3052	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	ATP1A1_ENST00000295598.5_Missense_Mutation_p.D897N|ATP1A1_ENST00000369496.4_Missense_Mutation_p.D866N	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	897					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CTGGATCAACGATGTGGAAGA	0.572													9	50					0	0	0	0	A	116943599	G	A	116943599	3	1	467	1	0	0	0	0	1	0	0	0	1132	1058	37	1	2779	1	ATP1A1	1	116943599	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	29	116943599	132307022	17	90423											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858590	149858590	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgcgctcgtcccgcgcTggcctccagttcccggtagg	4	8	13	16	6	0	0	0	0	0	0	5	0	3	0	4	3	0	4	4	3	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:149858590T>A	ENST00000331380.2	+	1	66	c.66T>A	c.(64-66)gcT>gcA	p.A22A		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	22					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGTCCCGCGCTGGCCTCCAGT	0.657													41	137					0	0	0	0	A	149858590	T	A	149858590	2	1	467	1	0	0	0	0	0	0	0	1	7228	1567	55	5		5	HIST2H2AC	1	149858590	Silent	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	32914991	149858590	99392031	18	90424											
ZNF687	57592	broad.mit.edu	37	chr1	151259741	151259741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctgcctccagctcctCtaggcctcttaaggtgcgga	5	10	9	17	1	2	0	0	0	2	0	5	1	5	1	6	3	3	1	6	3	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:151259741C>A	ENST00000368879.2	+	2	1072	c.974C>A	c.(973-975)tCt>tAt	p.S325Y		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	325	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			TCCAGCTCCTCTAGGCCTCTT	0.577													8	51					0.00307968	0.0031158	1	0	A	151259741	C	A	151259741	3	1	467	1	0	0	0	0	1	0	0	0	18187	913	32	2	976	2	ZNF687	1	151259741	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1401151	151259741	97990880	19	90425											
ZNF687	57592	broad.mit.edu	37	chr1	151260445	151260445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgtcggagcatgcgcatcGaggtcacctgcaaccactgc	9	6	11	15	4	1	0	1	0	0	0	3	2	1	1	3	2	5	3	3	2	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:151260445G>A	ENST00000368879.2	+	2	1776	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			CATGCGCATCGAGGTCACCTG	0.627													14	85					0	0	0	0	A	151260445	G	A	151260445	3	1	467	1	0	0	0	0	1	0	0	0	18187	1059	37	1	1680	1	ZNF687	1	151260445	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	704	151260445	97990176	20	90426											
DAP3	7818	broad.mit.edu	37	chr1	155699069	155699069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctaaagaggcaaagttCtttgggtatgtttcacctcc	11	12	10	8	0	2	2	1	0	1	2	3	2	3	2	2	2	1	5	2	2	4	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:155699069C>A	ENST00000368336.5	+	9	879	c.755C>A	c.(754-756)tCt>tAt	p.S252Y	DAP3_ENST00000421487.2_Missense_Mutation_p.S218Y|DAP3_ENST00000343043.3_Missense_Mutation_p.S252Y|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.S211Y|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	252					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGGCAAAGTTCTTTGGGTATG	0.473													28	132					1.55811e-20	1.7011e-20	1	0	A	155699069	C	A	155699069	3	1	467	1	0	0	0	0	1	0	0	0	4267	913	32	2	785	2	DAP3	1	155699069	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	4438624	155699069	93551552	21	90427											
MEX3A	92312	broad.mit.edu	37	chr1	156046533	156046533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccatgcaatcccgcccGccgccggggctccgcaggcc	6	3	12	20	5	0	1	0	0	0	1	2	1	2	1	7	3	1	3	7	3	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:156046533G>A	ENST00000532414.2	-	2	1394	c.1395C>T	c.(1393-1395)ggC>ggT	p.G465G		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	465						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AATCCCGCCCGCCGCCGGGGC	0.692													4	18					0	0	0	0	A	156046533	G	A	156046533	2	1	467	1	0	0	0	0	0	0	0	1	9578	1074	38	1		1	MEX3A	1	156046533	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	347464	156046533	93204088	22	90428											
SEMA4A	64218	broad.mit.edu	37	chr1	156126262	156126262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctccaggattttgacaCtctgctcctgagtggtgatg	6	12	13	10	0	1	3	0	3	1	0	3	4	3	4	3	3	1	1	3	3	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:156126262C>T	ENST00000368285.3	+	3	464	c.197C>T	c.(196-198)aCt>aTt	p.T66I	SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.T66I|SEMA4A_ENST00000355014.2_Missense_Mutation_p.T66I	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	66	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GATTTTGACACTCTGCTCCTG	0.537													26	116					0	0	0	0	T	156126262	C	T	156126262	3	4	467	1	0	0	0	0	1	0	0	0	14118	565	20	4	203	4	SEMA4A	1	156126262	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	79729	156126262	93124359	23	90429											
SPTA1	6708	broad.mit.edu	37	chr1	158637691	158637691	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctcccagaggctggcAacttcactcagacgagtggt	10	8	10	13	1	2	2	2	0	0	2	4	3	4	2	2	3	2	2	2	3	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:158637691A>T	ENST00000368148.3	-	15	2175	c.1995T>A	c.(1993-1995)gtT>gtA	p.V665V	SPTA1_ENST00000368147.3_Silent_p.V665V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	665					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAGGCTGGCAACTTCACTCA	0.438													32	73					0	0	0	0	T	158637691	A	T	158637691	2	4	467	1	0	0	0	0	0	0	0	1	15206	117	5	5		5	SPTA1	1	158637691	Silent	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	2511429	158637691	90612930	24	90430											
VANGL2	57216	broad.mit.edu	37	chr1	160394931	160394931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggagcgatacttggcGgctggacctaccatccagta	8	11	11	11	2	1	0	0	0	1	0	2	3	2	2	3	4	3	2	3	4	3	6	rs146767141		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:160394931G>A	ENST00000368061.2	+	8	1803	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	443					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.A443A(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATACTTGGCGGCTGGACCTA	0.557													28	36					0	0	0	0	A	160394931	G	A	160394931	2	1	467	1	0	0	0	0	0	0	0	1	17216	1103	39	1		1	VANGL2	1	160394931	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1757240	160394931	88855690	25	90431											
GPR52	9293	broad.mit.edu	37	chr1	174417406	174417406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattgtgttgctgacatttCtgatcattgctgggaatcta	8	18	9	6	0	3	2	1	2	2	0	3	3	3	3	0	1	2	3	0	1	3	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:174417406C>G	ENST00000367685.2	+	1	195	c.157C>G	c.(157-159)Ctg>Gtg	p.L53V	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	53						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GCTGACATTTCTGATCATTGC	0.443													9	115					0	0	0	0	G	174417406	C	G	174417406	3	3	467	1	0	0	0	0	1	0	0	0	6747	912	32	2	159	2	GPR52	1	174417406	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	14022475	174417406	74833215	26	90432											
GPR52	9293	broad.mit.edu	37	chr1	174417581	174417581	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacaggtgtccacgagtCattgacttgccaggtttttg	7	13	10	11	1	1	1	1	1	0	0	3	2	3	1	3	2	1	1	3	2	0	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:174417581C>G	ENST00000367685.2	+	1	370	c.332C>G	c.(331-333)tCa>tGa	p.S111*	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	111						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GTCCACGAGTCATTGACTTGC	0.423													21	315					0	0	0	0	G	174417581	C	G	174417581	4	3	467	1	0	0	0	0	0	1	0	0	6747	838	29	2	334	2	GPR52	1	174417581	Nonsense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	175	174417581	74833040	27	90433											
ANGPTL1	9068	broad.mit.edu	37	chr1	178834309	178834309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgtcgggaaaatatcctCaagcactgttcttccaacaa	12	12	6	11	1	3	0	1	0	2	0	6	1	5	1	2	1	2	2	2	1	6	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:178834309C>T	ENST00000234816.2	-	3	1050	c.603G>A	c.(601-603)ttG>ttA	p.L201L	ANGPTL1_ENST00000367629.1_Silent_p.L201L|RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	201						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AAAATATCCTCAAGCACTGTT	0.463													5	214					0	0	0	0	T	178834309	C	T	178834309	2	4	467	1	0	0	0	0	0	0	0	1	613	825	29	2		2	ANGPTL1	1	178834309	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	4416728	178834309	70416312	28	90434											
CFH	3075	broad.mit.edu	37	chr1	196684847	196684847	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatactggaagcaccacTggttccatagtgtgtggtta	11	11	11	8	0	0	0	0	0	0	0	1	1	1	1	2	3	3	4	2	3	5	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:196684847T>A	ENST00000367429.4	+	11	1884	c.1644T>A	c.(1642-1644)acT>acA	p.T548T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	548	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAAGCACCACTGGTTCCATAG	0.353													6	190					0	0	0	0	A	196684847	T	A	196684847	2	1	467	1	0	0	0	0	0	0	0	1	3312	1567	55	5		5	CFH	1	196684847	Silent	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	17850538	196684847	52565774	29	90435											
CENPF	1063	broad.mit.edu	37	chr1	214826293	214826293	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctcaataattcattgaaAgctactactcagattttgga	14	13	7	7	0	3	2	3	1	0	1	3	4	3	3	0	1	4	2	0	1	5	7			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:214826293A>T	ENST00000366955.3	+	16	8451	c.8283A>T	c.(8281-8283)aaA>aaT	p.K2761N	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2857	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATTCATTGAAAGCTACTACTC	0.338													31	140					0	0	0	0	T	214826293	A	T	214826293	3	4	467	1	0	0	0	0	1	0	0	0	3260	69	3	5	8341	5	CENPF	1	214826293	Missense_Mutation	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	18141446	214826293	34424328	30	90436											
KIAA1804	84451	broad.mit.edu	37	chr1	233482347	233482347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcaagtcttccttgttttCtaagggaagcgacatctgga	10	13	10	8	1	4	0	1	0	3	0	5	4	5	2	1	2	1	1	1	2	3	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:233482347C>G	ENST00000366624.3	+	2	1226	c.965C>G	c.(964-966)tCt>tGt	p.S322C	MLK4_ENST00000366623.3_Missense_Mutation_p.S322C	NM_032435.2	NP_115811.2																					TCCTTGTTTTCTAAGGGAAGC	0.478													6	56					0	0	0	0	G	233482347	C	G	233482347	3	3	467	1	0	0	0	0	1	0	0	0	8310	913	32	2	971	2	KIAA1804	1	233482347	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	18656054	233482347	15768274	31	90437											
RYR2	6262	broad.mit.edu	37	chr1	237796974	237796974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagctatgtttgatcatCtcagttatttactggaaaac	15	14	6	6	0	2	1	2	1	1	0	3	2	2	2	0	1	3	3	0	1	7	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:237796974C>T	ENST00000366574.2	+	43	6969	c.6652C>T	c.(6652-6654)Ctc>Ttc	p.L2218F	RYR2_ENST00000542537.1_Missense_Mutation_p.L2202F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2216F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2218	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTGATCATCTCAGTTATTT	0.338													6	106					0	0	0	0	T	237796974	C	T	237796974	3	4	467	1	0	0	0	0	1	0	0	0	13854	913	32	2	6822	2	RYR2	1	237796974	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	4314627	237796974	11453647	32	90438											
TPO	7173	broad.mit.edu	37	chr2	1437283	1437283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttcctgagccaacaagcGgagtgattgcccgagcagca	12	6	11	12	2	0	2	0	2	0	0	1	4	1	3	3	1	7	2	3	1	3	2	rs139292269	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:1437283G>A	ENST00000345913.4	+	4	344	c.253G>A	c.(253-255)Gga>Aga	p.G85R	TPO_ENST00000329066.4_Missense_Mutation_p.G85R|TPO_ENST00000337415.3_Missense_Mutation_p.G85R|TPO_ENST00000382198.1_Missense_Mutation_p.G85R|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.G85R|TPO_ENST00000539820.1_Missense_Mutation_p.G85R|TPO_ENST00000382201.3_Missense_Mutation_p.G85R|TPO_ENST00000349624.3_Missense_Mutation_p.G85R|TPO_ENST00000346956.3_Missense_Mutation_p.G85R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	85					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCAACAAGCGGAGTGATTGC	0.408													12	89					0	0	0	0	A	1437283	G	A	1437283	3	1	467	1	0	0	0	0	1	0	0	0	16505	1117	39	1	263	1	TPO	2	1437283	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		1437283	241762090	33	90439											
ITSN2	50618	broad.mit.edu	37	chr2	24522815	24522815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttctcctttcttcctctCgttgtctctccaattcccgt	2	20	3	16	2	4	0	0	0	4	0	10	0	7	0	4	0	0	1	4	0	1	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:24522815C>T	ENST00000355123.4	-	12	1750	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	ITSN2_ENST00000406921.3_Missense_Mutation_p.R436Q|ITSN2_ENST00000361999.3_Missense_Mutation_p.R436Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	436					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTCCTCTCGTTGTCTCTC	0.328													5	108					0	0	0	0	T	24522815	C	T	24522815	3	4	467	1	0	0	0	0	1	0	0	0	7980	884	31	1	3953	1	ITSN2	2	24522815	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	23085532	24522815	218676558	34	90440											
FNDC4	64838	broad.mit.edu	37	chr2	27715639	27715639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgtcatactgacggCagaacagcccaattacagct	13	9	9	10	1	1	4	1	3	0	1	1	4	1	4	1	1	5	2	1	1	4	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:27715639C>A	ENST00000264703.3	-	6	954	c.563G>T	c.(562-564)tGc>tTc	p.C188F		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	188						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATACTGACGGCAGAACAGCCC	0.502													6	62					0.00116845	0.00119264	1	0	A	27715639	C	A	27715639	3	1	467	1	0	0	0	0	1	0	0	0	6016	710	25	4	149	4	FNDC4	2	27715639	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3192824	27715639	215483734	35	90441											
BIRC6	57448	broad.mit.edu	37	chr2	32692772	32692772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcattcactaattcttcatGacttaataccacctcccgtg	10	14	3	14	1	4	1	3	1	1	0	5	1	5	1	3	0	1	0	3	0	3	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:32692772G>A	ENST00000421745.2	+	27	5670	c.5536G>A	c.(5536-5538)Gac>Aac	p.D1846N		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1846					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)					AATTCTTCATGACTTAATACC	0.383													7	33					0	0	0	0	A	32692772	G	A	32692772	3	1	467	1	0	0	0	0	1	0	0	0	1443	1290	45	2	5642	2	BIRC6	2	32692772	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	4977133	32692772	210506601	36	90442											
SOCS5	9655	broad.mit.edu	37	chr2	46986576	46986576	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatataaactgggaccaaaaTtagctcctggaatgactgaa	16	10	8	7	0	0	2	0	2	0	0	1	4	1	4	2	2	2	1	2	2	9	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:46986576T>G	ENST00000306503.5	+	2	1079	c.907T>G	c.(907-909)Tta>Gta	p.L303V	SOCS5_ENST00000394861.2_Missense_Mutation_p.L303V	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	303					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGGACCAAAATTAGCTCCTGG	0.433													45	51					0	0	0	0	G	46986576	T	G	46986576	3	3	467	1	0	0	0	0	1	0	0	0	15005	1490	52	5	909	5	SOCS5	2	46986576	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	14293804	46986576	196212797	37	90443											
COMMD1	150684	broad.mit.edu	37	chr2	62373555	62373555	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatgaaggaggaggatgTccttaagttccttgcagcag	12	9	13	7	0	0	1	0	1	0	0	2	4	2	4	2	3	2	4	2	3	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:62373555T>A	ENST00000425966.2	-	0	143				AC018462.2_ENST00000421323.1_RNA																							gagGAGGATGTCCTTAAGTTC	0.458													5	17					0	0	0	0	A	62373555	T	A	62373555	1	1	467	0	1	0	0	0	0	0	0	0	3744	1682	58	5		5	COMMD1	2	62373555	RNA	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	15386979	62373555	180825818	38	90444											
EDAR	10913	broad.mit.edu	37	chr2	109513507	109513507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgtagcctgccgtgctGatgcggtcaaagagttgcat	8	11	13	9	2	1	2	1	1	0	1	1	2	1	2	2	1	6	5	2	1	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:109513507G>A	ENST00000409271.1	-	12	1742	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	EDAR_ENST00000376651.1_Silent_p.I433I|EDAR_ENST00000258443.2_Silent_p.I401I			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	401					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGCCGTGCTGATGCGGTCAA	0.572													16	27					0	0	0	0	A	109513507	G	A	109513507	2	1	467	1	0	0	0	0	0	0	0	1	4941	1280	45	2		2	EDAR	2	109513507	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	47139952	109513507	133685866	39	90445											
POLR1B	84172	broad.mit.edu	37	chr2	113322052	113322052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggatcttgctccaggcatCgcagattctcttcgtcattt	8	14	8	11	2	3	1	1	0	2	1	7	2	4	2	1	2	1	3	1	2	1	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:113322052C>T	ENST00000263331.5	+	10	2302	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.I363I|POLR1B_ENST00000541869.1_Silent_p.I612I|POLR1B_ENST00000417433.2_Silent_p.I518I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	574					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CTCCAGGCATCGCAGATTCTC	0.493													27	151					0	0	0	0	T	113322052	C	T	113322052	2	4	467	1	0	0	0	0	0	0	0	1	12282	874	31	1		1	POLR1B	2	113322052	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3808545	113322052	129877321	40	90446											
DPP10	57628	broad.mit.edu	37	chr2	116525882	116525882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtattttagaatgaggagCccgtgttttctagagacggc	9	13	12	7	2	1	3	0	1	1	2	1	5	1	4	1	2	1	2	1	2	4	6	rs142535149		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:116525882C>T	ENST00000410059.1	+	13	1603	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	DPP10_ENST00000393147.2_Missense_Mutation_p.P379S|DPP10_ENST00000409163.1_Missense_Mutation_p.P325S|DPP10_ENST00000310323.8_Missense_Mutation_p.P368S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	375					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAATGAGGAGCCCGTGTTTTC	0.448													11	64					0	0	0	0	T	116525882	C	T	116525882	3	4	467	1	0	0	0	0	1	0	0	0	4763	739	26	4	1344	4	DPP10	2	116525882	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3203830	116525882	126673491	41	90447											
CFC1	55997	broad.mit.edu	37	chr2	131356270	131356270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggcccccagccctcggcGctcccagtcacctctccgaa	5	6	8	22	4	2	0	1	0	1	0	6	1	4	0	7	2	1	1	7	2	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:131356270G>A	ENST00000259216.4	-	3	454	c.192C>T	c.(190-192)agC>agT	p.S64S		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	64					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					AGCCCTCGGCGCTCCCAGTCA	0.622													10	180					0	0	0	0	A	131356270	G	A	131356270	2	1	467	1	0	0	0	0	0	0	0	1	3308	1078	38	1		1	CFC1	2	131356270	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	14830388	131356270	111843103	42	90448											
LRP1B	53353	broad.mit.edu	37	chr2	141202206	141202206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagctggtagagcacagagtCcagtcccacactgaaatcgg	13	6	11	11	1	0	3	0	1	0	2	3	3	2	3	2	2	2	3	2	2	3	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:141202206C>G	ENST00000389484.3	-	64	11071	c.10100G>C	c.(10099-10101)gGa>gCa	p.G3367A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3367	LDL-receptor class A 22.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCACAGAGTCCAGTCCCACA	0.418										TSP Lung(27;0.18)			8	87					0	0	0	0	G	141202206	C	G	141202206	3	3	467	1	0	0	0	0	1	0	0	0	9019	855	30	2	3811	2	LRP1B	2	141202206	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	9845936	141202206	101997167	43	90449											
LRP1B	53353	broad.mit.edu	37	chr2	141643780	141643780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caataaagtaaactttgattGaagtgaaaatcaagtgctat	18	12	7	4	0	1	3	1	3	0	0	1	3	1	3	0	0	2	2	0	0	10	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:141643780G>A	ENST00000389484.3	-	24	4862	c.3891C>T	c.(3889-3891)ttC>ttT	p.F1297F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1297					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTTTGATTGAAGTGAAAAT	0.333										TSP Lung(27;0.18)			7	70					0	0	0	0	A	141643780	G	A	141643780	2	1	467	1	0	0	0	0	0	0	0	1	9019	1281	45	2		2	LRP1B	2	141643780	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	441574	141643780	101555593	44	90450											
BAZ2B	29994	broad.mit.edu	37	chr2	160245892	160245892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatgtcttcattaggcttCtttagttcctttgccatttc	6	19	5	11	0	3	0	1	0	2	0	5	0	4	0	2	1	1	2	2	1	2	8			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:160245892C>G	ENST00000392783.2	-	21	3675	c.3180G>C	c.(3178-3180)aaG>aaC	p.K1060N	BAZ2B_ENST00000392782.1_Missense_Mutation_p.K1024N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K1026N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.K960N|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1060	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATTAGGCTTCTTTAGTTCCT	0.338													31	186					0	0	0	0	G	160245892	C	G	160245892	3	3	467	1	0	0	0	0	1	0	0	0	1336	912	32	2	3394	2	BAZ2B	2	160245892	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	18602112	160245892	82953481	45	90451											
GPR155	151556	broad.mit.edu	37	chr2	175337792	175337792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagataaaatagggctgatCcagaaaaagaatttccaagt	19	8	8	6	0	0	4	0	1	0	3	2	4	2	4	2	1	0	1	2	1	8	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:175337792C>T	ENST00000392552.2	-	3	999	c.761G>A	c.(760-762)gGa>gAa	p.G254E	GPR155_ENST00000392551.2_Missense_Mutation_p.G254E|GPR155_ENST00000295500.4_Missense_Mutation_p.G254E	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	254					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TAGGGCTGATCCAGAAAAAGA	0.368													17	123					0	0	0	0	T	175337792	C	T	175337792	3	4	467	1	0	0	0	0	1	0	0	0	6709	855	30	2	1907	2	GPR155	2	175337792	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	15091900	175337792	67861581	46	90452											
NFE2L2	4780	broad.mit.edu	37	chr2	178095546	178095546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatctggcttcttacttttGggaacaaggaaaacattgcc	12	12	8	9	0	2	0	0	0	2	0	2	2	2	2	1	3	4	1	1	3	5	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:178095546G>A	ENST00000397062.3	-	5	2339	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	NFE2L2_ENST00000464747.1_Silent_p.P579P|NFE2L2_ENST00000446151.2_Silent_p.P572P|NFE2L2_ENST00000397063.4_Silent_p.P579P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	595					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTACTTTTGGGAACAAGGA	0.373			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			10	148					0	0	0	0	A	178095546	G	A	178095546	2	1	467	1	0	0	0	0	0	0	0	1	10438	1335	47	4		4	NFE2L2	2	178095546	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2757754	178095546	65103827	47	90453											
TTN	7273	broad.mit.edu	37	chr2	179430797	179430797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgactgccaaattctGtggtggtcctggagtgtcaa	7	15	11	8	0	3	1	1	1	2	0	4	2	4	2	2	3	1	0	2	3	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:179430797G>T	ENST00000589042.1	-	326	80286	c.80062C>A	c.(80062-80064)Cag>Aag	p.Q26688K	TTN_ENST00000460472.2_Missense_Mutation_p.Q17623K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q17815K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24120K|TTN_ENST00000359218.5_Missense_Mutation_p.Q17748K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q25047K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25047	Fibronectin type-III 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAAATTCTGTGGTGGTCCT	0.423													8	245					0.00307968	0.0031158	1	0	T	179430797	G	T	179430797	3	4	467	1	0	0	0	0	1	0	0	0	16831	1386	48	4	28065	4	TTN	2	179430797	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1335251	179430797	63768576	48	90454											
CRYGD	1421	broad.mit.edu	37	chr2	208986503	208986503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagcaggtactgccgtcctCggtagttggacagctcgtag	7	10	13	11	3	1	0	1	0	0	0	4	1	2	1	2	3	4	6	2	3	3	4	rs144372987		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:208986503C>T	ENST00000264376.4	-	3	446	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	140	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTGCCGTCCTCGGTAGTTGGA	0.587													18	111					0	0	0	0	T	208986503	C	T	208986503	3	4	467	1	0	0	0	0	1	0	0	0	3947	884	31	1	109	1	CRYGD	2	208986503	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	29555706	208986503	34212870	49	90455											
SPEG	10290	broad.mit.edu	37	chr2	220349284	220349284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggccccttccgtggggccGaggaggaggatggcatatac	7	6	17	11	3	0	0	0	0	0	0	1	4	1	3	4	7	1	1	4	7	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:220349284G>A	ENST00000312358.7	+	30	7231	c.7099G>A	c.(7099-7101)Gag>Aag	p.E2367K	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2367	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCGTGGGGCCGAGGAGGAGGA	0.731													5	27					0	0	0	0	A	220349284	G	A	220349284	3	1	467	1	0	0	0	0	1	0	0	0	15126	1059	37	1	7229	1	SPEG	2	220349284	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	11362781	220349284	22850089	50	90456											
SLC4A3	6508	broad.mit.edu	37	chr2	220505519	220505519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccctaggtgaagacGtggcggatgcatctgttcac	7	10	12	12	2	2	2	1	1	1	1	3	3	3	3	2	3	2	3	2	3	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:220505519G>A	ENST00000358055.3	+	22	3968	c.3456G>A	c.(3454-3456)acG>acA	p.T1152T	SLC4A3_ENST00000317151.3_Silent_p.T1152T|SLC4A3_ENST00000273063.6_Silent_p.T1179T|SLC4A3_ENST00000373760.2_Silent_p.T1152T|SLC4A3_ENST00000373762.3_Silent_p.T1179T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1152	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTGAAGACGTGGCGGATGC	0.647													8	49					0	0	0	0	A	220505519	G	A	220505519	2	1	467	1	0	0	0	0	0	0	0	1	14743	1132	40	1		1	SLC4A3	2	220505519	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	156235	220505519	22693854	51	90457											
SP140	11262	broad.mit.edu	37	chr2	231159004	231159004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaatggatttctgcctgatCctccaagaatacgttacagg	12	11	9	9	1	1	3	0	1	1	2	3	4	3	4	3	2	3	1	3	2	5	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:231159004C>T	ENST00000392045.3	+	21	2101	c.1987C>T	c.(1987-1989)Cct>Tct	p.P663S	SP140_ENST00000420434.3_Missense_Mutation_p.P636S|SP140_ENST00000417495.3_Missense_Mutation_p.P549S|SP140_ENST00000343805.6_Missense_Mutation_p.P603S|SP140_ENST00000486687.2_Missense_Mutation_p.P587S|SP140_ENST00000350136.5_Missense_Mutation_p.P532S	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	663					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P663S(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTGCCTGATCCTCCAAGAAT	0.363													7	89					0	0	0	0	T	231159004	C	T	231159004	3	4	467	1	0	0	0	0	1	0	0	0	15050	855	30	2	2186	2	SP140	2	231159004	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	10653485	231159004	12040369	52	90458											
USP40	55230	broad.mit.edu	37	chr2	234457817	234457817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggcctccgtagcagccaCctttgtgtataataactgag	11	11	9	10	1	0	1	0	1	0	0	1	1	1	1	4	1	3	3	4	1	5	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:234457817C>G	ENST00000251722.6	-	8	1013	c.896G>C	c.(895-897)gGt>gCt	p.G299A	USP40_ENST00000450966.1_Missense_Mutation_p.G311A|USP40_ENST00000427112.2_Missense_Mutation_p.G299A			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	299				CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLG N -> FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQP LSSVFR (in Ref. 4; AAH67300).	ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTAGCAGCCACCTTTGTGTAT	0.303													3	22					0	0	0	0	G	234457817	C	G	234457817	3	3	467	1	0	0	0	0	1	0	0	0	17168	507	18	4	2911	4	USP40	2	234457817	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3298813	234457817	8741556	53	90459											
TRPM8	79054	broad.mit.edu	37	chr2	234878921	234878921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcttcacctcccccttcGtggtcttctcctggaatgtg	3	15	8	15	2	4	0	1	0	3	0	7	1	5	1	4	2	0	1	4	2	1	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:234878921G>A	ENST00000324695.4	+	17	2246	c.2206G>A	c.(2206-2208)Gtg>Atg	p.V736M	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	736						integral to membrane		p.V736M(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCCCCCTTCGTGGTCTTCTC	0.547													38	235					0	0	0	0	A	234878921	G	A	234878921	3	1	467	1	0	0	0	0	1	0	0	0	16687	1145	40	1	2268	1	TRPM8	2	234878921	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	421104	234878921	8320452	54	90460											
B4GALT4	8702	broad.mit.edu	37	chr3	118948733	118948733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggcagttgtcaagttctaCcttcttcgtggatgcttcat	7	15	10	9	1	4	0	2	0	2	0	5	1	4	1	1	2	2	4	1	2	2	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:118948733C>T	ENST00000467604.1	-	3	605	c.214G>A	c.(214-216)Gta>Ata	p.V72I	B4GALT4_ENST00000393765.2_Missense_Mutation_p.V72I|B4GALT4_ENST00000471675.1_Missense_Mutation_p.V25I|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.V72I|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000483209.1_Missense_Mutation_p.V72I			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	72					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCAAGTTCTACCTTCTTCGTG	0.368													7	104					0	0	0	0	T	118948733	C	T	118948733	3	4	467	1	0	0	0	0	1	0	0	0	1277	507	18	4	844	4	B4GALT4	3	118948733	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08		118948733	79073697	55	90461											
ATP2C1	27032	broad.mit.edu	37	chr3	130699488	130699488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggagaagaaatagatgcaAtggatgttcagcagctttca	15	9	11	6	0	2	3	2	0	0	3	2	5	2	4	0	2	3	4	0	2	4	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:130699488A>G	ENST00000510168.1	+	20	2354	c.1804A>G	c.(1804-1806)Atg>Gtg	p.M602V	ATP2C1_ENST00000359644.3_Missense_Mutation_p.M602V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.M602V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.M602V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.M602V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.M547V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.M586V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.M602V|ATP2C1_ENST00000393221.4_Missense_Mutation_p.M636V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.M597V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	602					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AATAGATGCAATGGATGTTCA	0.383									Hailey-Hailey disease				63	57					0	0	0	0	G	130699488	A	G	130699488	3	3	467	1	0	0	0	0	1	0	0	0	1147	101	4	5	1878	5	ATP2C1	3	130699488	Missense_Mutation	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	11750755	130699488	67322942	56	90462											
PRR23B	389151	broad.mit.edu	37	chr3	138739189	138739189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcgttcgtcgacggagctCaggaggacctctgggatcag	8	7	16	10	4	3	0	2	0	1	0	5	6	3	4	1	4	2	2	1	4	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:138739189C>T	ENST00000329447.5	-	1	579	c.315G>A	c.(313-315)ctG>ctA	p.L105L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	105										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGACGGAGCTCAGGAGGACCT	0.652													8	80					0	0	0	0	T	138739189	C	T	138739189	2	4	467	1	0	0	0	0	0	0	0	1	12675	813	29	2		2	PRR23B	3	138739189	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	8039701	138739189	59283241	57	90463											
GPR160	26996	broad.mit.edu	37	chr3	169802120	169802120	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagcttgtatagattaTtgcctgaatttctctaaaac	12	15	6	8	0	1	3	0	2	1	1	2	3	1	3	1	0	3	2	1	0	6	7			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:169802120T>C	ENST00000355897.5	+	4	968	c.360T>C	c.(358-360)taT>taC	p.Y120Y		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	120						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y120*(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GTATAGATTATTGCCTGAATT	0.294													14	140					0	0	0	0	C	169802120	T	C	169802120	2	2	467	1	0	0	0	0	0	0	0	1	6713	1500	52	5		5	GPR160	3	169802120	Silent	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	31062931	169802120	28220310	58	90464											
ZNF639	51193	broad.mit.edu	37	chr3	179051945	179051945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgttgctattgaacataCaaaaatttttcctcatgttt	12	17	5	7	0	1	1	1	1	0	0	2	1	2	1	1	0	3	4	1	0	5	7			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:179051945C>G	ENST00000326361.3	+	7	1638	c.1193C>G	c.(1192-1194)aCa>aGa	p.T398R	ZNF639_ENST00000484866.1_Missense_Mutation_p.T398R|ZNF639_ENST00000496856.1_Missense_Mutation_p.T398R	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	398	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATTGAACATACAAAAATTTTT	0.323													33	181					0	0	0	0	G	179051945	C	G	179051945	3	3	467	1	0	0	0	0	1	0	0	0	18151	478	17	4	1207	4	ZNF639	3	179051945	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	9249825	179051945	18970485	59	90465											
TTC14	151613	broad.mit.edu	37	chr3	180324050	180324050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcttttttagtgtgaagatCggagttgactattttaaagt	10	18	10	3	1	1	3	0	2	1	1	2	4	1	4	0	1	0	1	0	1	5	7			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:180324050C>T	ENST00000412756.2	+	8	1008	c.939C>T	c.(937-939)atC>atT	p.I313I	TTC14_ENST00000382584.4_Silent_p.I313I|TTC14_ENST00000296015.4_Silent_p.I313I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	313							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTGTGAAGATCGGAGTTGACT	0.323													8	140					0	0	0	0	T	180324050	C	T	180324050	2	4	467	1	0	0	0	0	0	0	0	1	16777	874	31	1		1	TTC14	3	180324050	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1272105	180324050	17698380	60	90466											
FXR1	8087	broad.mit.edu	37	chr3	180669130	180669130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcatgaggaatttgttgtGagagaagatttaatgggcct	11	15	12	3	0	1	4	1	2	0	2	1	6	1	5	1	2	0	1	1	2	3	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:180669130G>A	ENST00000357559.4	+	8	1059	c.675G>A	c.(673-675)gtG>gtA	p.V225V	FXR1_ENST00000305586.7_Silent_p.V140V|FXR1_ENST00000445140.2_Silent_p.V225V|FXR1_ENST00000468861.1_Silent_p.V140V|FXR1_ENST00000480918.1_Silent_p.V212V|FXR1_ENST00000491062.1_Silent_p.V176V	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	225	KH 1.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AATTTGTTGTGAGAGAAGATT	0.363													11	126					0	0	0	0	A	180669130	G	A	180669130	2	1	467	1	0	0	0	0	0	0	0	1	6163	1277	45	2		2	FXR1	3	180669130	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	345080	180669130	17353300	61	90467											
ABCF3	55324	broad.mit.edu	37	chr3	183909041	183909041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcgagtctcgcatctgtGtggtaaggctgctgtttctc	5	15	11	10	2	4	0	0	0	4	0	7	1	4	0	0	2	1	5	0	2	1	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:183909041G>T	ENST00000429586.2	+	16	1752	c.1567G>T	c.(1567-1569)Gtg>Ttg	p.V523L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.V517L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	523	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGCATCTGTGTGGTAAGGCT	0.537													23	273					3.83957e-06	4.00197e-06	1	0	T	183909041	G	T	183909041	3	4	467	1	0	0	0	0	1	0	0	0	67	1377	48	4	1629	4	ABCF3	3	183909041	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	3239911	183909041	14113389	62	90468											
EIF4G1	1981	broad.mit.edu	37	chr3	184043143	184043143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgctttatgctgcaggaCgtgctggatctgcgaggggt	6	11	15	9	3	1	0	0	0	1	0	2	3	2	2	1	4	4	4	1	4	1	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:184043143C>T	ENST00000342981.4	+	18	3360	c.2946C>T	c.(2944-2946)gaC>gaT	p.D982D	EIF4G1_ENST00000414031.1_Silent_p.D941D|EIF4G1_ENST00000350481.5_Silent_p.D817D|EIF4G1_ENST00000352767.3_Silent_p.D988D|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Silent_p.D895D|EIF4G1_ENST00000441154.1_Silent_p.D818D|EIF4G1_ENST00000435046.2_Silent_p.D785D|EIF4G1_ENST00000434061.2_Silent_p.D786D|EIF4G1_ENST00000382330.3_Silent_p.D988D|EIF4G1_ENST00000392537.2_Silent_p.D894D|EIF4G1_ENST00000424196.1_Silent_p.D988D|EIF4G1_ENST00000319274.6_Silent_p.D981D|EIF4G1_ENST00000346169.2_Silent_p.D981D|EIF4G1_ENST00000411531.1_Silent_p.D942D	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	981	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGCAGGACGTGCTGGATC	0.522													38	195					0	0	0	0	T	184043143	C	T	184043143	2	4	467	1	0	0	0	0	0	0	0	1	5074	535	19	1		1	EIF4G1	3	184043143	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	134102	184043143	13979287	63	90469											
OPA1	4976	broad.mit.edu	37	chr3	193361784	193361784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggatctgtggatgctgaaCgcagtattgttacagacttg	10	13	12	6	1	1	2	0	1	1	1	1	4	1	4	0	2	3	4	0	2	3	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:193361784C>T	ENST00000361510.2	+	16	1732	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	OPA1_ENST00000392438.3_Missense_Mutation_p.R445C|OPA1_ENST00000361828.2_Missense_Mutation_p.R463C|OPA1_ENST00000361150.2_Missense_Mutation_p.R446C|OPA1_ENST00000361908.3_Missense_Mutation_p.R482C|OPA1_ENST00000361715.2_Missense_Mutation_p.R464C	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	445					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGATGCTGAACGCAGTATTGT	0.373													13	124					0	0	0	0	T	193361784	C	T	193361784	3	4	467	1	0	0	0	0	1	0	0	0	10942	536	19	1	1560	1	OPA1	3	193361784	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	9318641	193361784	4660646	64	90470											
FAM193A	8603	broad.mit.edu	37	chr4	2701773	2701773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcccaggccagggctagggGctgatggggatgctgcagac	8	5	18	10	0	0	2	0	1	0	1	0	3	0	3	2	6	3	4	2	6	1	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr4:2701773G>A	ENST00000324666.5	+	17	3352	c.3001G>A	c.(3001-3003)Gct>Act	p.A1001T	FAM193A_ENST00000505311.1_Missense_Mutation_p.A1001T|FAM193A_ENST00000502458.1_Missense_Mutation_p.A1023T|FAM193A_ENST00000545951.1_Missense_Mutation_p.A1001T|FAM193A_ENST00000382839.3_Missense_Mutation_p.A1001T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1001										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGGGCTAGGGGCTGATGGGGA	0.537													6	120					0	0	0	0	A	2701773	G	A	2701773	3	1	467	1	0	0	0	0	1	0	0	0	5567	1203	42	4	3059	4	FAM193A	4	2701773	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		2701773	188452503	65	90471											
RAPGEF2	9693	broad.mit.edu	37	chr4	160274813	160274813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcccatgataatatacaGacgatccagcaccagagaag	15	6	9	11	1	0	3	0	1	0	2	2	5	2	3	3	1	2	2	3	1	4	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr4:160274813G>A	ENST00000264431.4	+	22	4202	c.3783G>A	c.(3781-3783)caG>caA	p.Q1261Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1261					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATAATATACAGACGATCCAGC	0.527													43	69					0	0	0	0	A	160274813	G	A	160274813	2	1	467	1	0	0	0	0	0	0	0	1	13126	933	33	2		2	RAPGEF2	4	160274813	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	157573040	160274813	30879463	66	90472											
KLKB1	3818	broad.mit.edu	37	chr4	187177145	187177145	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttaaaaattatgtttcaGaattccaaaaaccaatatgc	19	13	3	6	0	1	1	1	0	0	1	2	1	2	1	2	0	2	1	2	0	10	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr4:187177145G>C	ENST00000264690.6	+	13	1676		c.e13-1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTATGTTTCAGAATTCCAAAA	0.338													20	24					0	0	0	0	C	187177145	G	C	187177145	5	2	467	1	0	0	0	0	0	0	1	0	8464	956	33	2	1535	2	KLKB1	4	187177145	Splice_Site	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	26902332	187177145	3977131	67	90473											
SLC6A19	340024	broad.mit.edu	37	chr5	1216992	1216992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcagcagcggtgcaacGcctccgaccccgcggcctac	8	4	11	18	5	0	0	0	0	0	0	1	1	1	0	5	2	6	3	5	2	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:1216992G>A	ENST00000304460.10	+	8	1161	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	369					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCGGTGCAACGCCTCCGACCC	0.617													82	164					0	0	0	0	A	1216992	G	A	1216992	3	1	467	1	0	0	0	0	1	0	0	0	14770	1087	38	1	1135	1	SLC6A19	5	1216992	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		1216992	179698268	68	90474											
FBXL7	23194	broad.mit.edu	37	chr5	15937233	15937233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtctccgtggaggccctgCgctttgtcaaacgccactgc	6	9	12	14	3	2	0	1	0	1	0	3	1	2	1	3	3	3	1	3	3	1	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:15937233C>A	ENST00000504595.1	+	4	1895	c.1414C>A	c.(1414-1416)Cgc>Agc	p.R472S	FBXL7_ENST00000329673.7_Missense_Mutation_p.R460S|FBXL7_ENST00000510662.1_Missense_Mutation_p.R425S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	472					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGAGGCCCTGCGCTTTGTCAA	0.592													9	26					1.12685e-05	1.17097e-05	1	0	A	15937233	C	A	15937233	3	1	467	1	0	0	0	0	1	0	0	0	5769	768	27	3	1428	3	FBXL7	5	15937233	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	14720241	15937233	164978027	69	90475											
RXFP3	51289	broad.mit.edu	37	chr5	33937219	33937219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcgtcaccaacctggCgctgacggactttcagtttg	6	12	9	14	3	3	1	2	1	1	0	4	2	3	2	3	2	1	2	3	2	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:33937219C>T	ENST00000330120.3	+	1	729	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	125						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACCAACCTGGCGCTGACGGAC	0.582													15	141					0	0	0	0	T	33937219	C	T	33937219	3	4	467	1	0	0	0	0	1	0	0	0	13846	768	27	1	376	1	RXFP3	5	33937219	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	17999986	33937219	146978041	70	90476											
UGT3A1	133688	broad.mit.edu	37	chr5	35965663	35965663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaatgctccttgatggtgTtgtcaaatgtagactgcatg	10	13	12	6	0	1	2	1	1	0	1	2	3	2	3	1	2	2	4	1	2	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:35965663T>C	ENST00000274278.3	-	4	1025	c.668A>G	c.(667-669)aAc>aGc	p.N223S	UGT3A1_ENST00000507113.1_Missense_Mutation_p.N189S|UGT3A1_ENST00000503189.1_Missense_Mutation_p.N223S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.N169S|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	223						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGATGGTGTTGTCAAATGT	0.438													49	89					0	0	0	0	C	35965663	T	C	35965663	3	2	467	1	0	0	0	0	1	0	0	0	17059	1725	60	5	1001	5	UGT3A1	5	35965663	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	2028444	35965663	144949597	71	90477											
LMBRD2	92255	broad.mit.edu	37	chr5	36122429	36122431	+	In_Frame_Del	DEL	GGC	GGC	-																															taaatcgattttctggctctGgcgattgaaaggtgtgaaca																										TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:36122429_36122431delGGC	ENST00000296603.4	-	9	1533_1535	c.1071_1073delGCC	c.(1069-1074)tca>tc	p.SP357del		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	357						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTGGCTCTGGCGATTGAAAGG	0.3													12	104	---	---	---	---					-	36122431	GGC	-	36122429	7	5	467	1	0	1	0	1	0	0	0	0	8898	1348	47	0	1054	0	LMBRD2	5	36122429	In_Frame_Del	DEL	GGC	TCGA-P3-A6T5-01A-11D-A34J-08	156766	36122429	144792831	72	90478											
OSMR	9180	broad.mit.edu	37	chr5	38925400	38925400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatccttctatgagtttttCatcactccattcactagtgc	9	16	5	11	0	4	1	3	1	1	0	6	2	6	1	2	0	1	1	2	0	3	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:38925400C>G	ENST00000274276.3	+	15	2541	c.2139C>G	c.(2137-2139)ttC>ttG	p.F713L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	713	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATGAGTTTTTCATCACTCCAT	0.438													81	124					0	0	0	0	G	38925400	C	G	38925400	3	3	467	1	0	0	0	0	1	0	0	0	11363	825	29	2	2231	2	OSMR	5	38925400	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2802971	38925400	141989860	73	90479											
PCSK1	5122	broad.mit.edu	37	chr5	95768696	95768696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcagtgcacaccaagcGcaaaagaggacgaaagcagt	15	5	11	10	2	1	1	1	0	0	1	1	3	1	2	1	1	3	4	1	1	4	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:95768696G>A	ENST00000311106.3	-	1	288	c.51C>T	c.(49-51)tgC>tgT	p.C17C	CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	17					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACACCAAGCGCAAAAGAGGA	0.557													37	139					0	0	0	0	A	95768696	G	A	95768696	2	1	467	1	0	0	0	0	0	0	0	1	11671	1079	38	1		1	PCSK1	5	95768696	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	56843296	95768696	85146564	74	90480											
MATR3	9782	broad.mit.edu	37	chr5	138657715	138657715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatataaaaaactggttctGagggtatgtagtatttgatt	15	15	9	2	0	1	2	0	2	1	0	1	2	1	2	0	2	1	4	0	2	8	8			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:138657715G>A	ENST00000394800.2	+	14	2280	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	MATR3_ENST00000502929.1_Silent_p.L577L|MATR3_ENST00000502499.1_Silent_p.L239L|MATR3_ENST00000394805.3_Silent_p.L577L|MATR3_ENST00000361059.2_Silent_p.L577L|MATR3_ENST00000509990.1_Silent_p.L577L|MATR3_ENST00000510056.1_Silent_p.L577L|MATR3_ENST00000503811.1_Silent_p.L289L|MATR3_ENST00000504203.1_Silent_p.L239L			P43243	MATR3_HUMAN	matrin 3	577						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AACTGGTTCTGAGGGTATGTA	0.338													13	75					0	0	0	0	A	138657715	G	A	138657715	2	1	467	1	0	0	0	0	0	0	0	1	9406	1277	45	2		2	MATR3	5	138657715	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	42889019	138657715	42257545	75	90481											
ANKHD1	54882	broad.mit.edu	37	chr5	139825539	139825539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaattcaaagaaagtgctCtaacacttgcttgctacaaa	16	11	6	8	0	2	2	1	1	1	1	2	2	2	2	0	0	5	3	0	0	6	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:139825539C>G	ENST00000297183.6	+	6	1250	c.1126C>G	c.(1126-1128)Cta>Gta	p.L376V	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L376V|ANKHD1_ENST00000394722.3_Missense_Mutation_p.L365V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L376V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L376V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAGTGCTCTAACACTTGC	0.348													7	51					0	0	0	0	G	139825539	C	G	139825539	3	3	467	1	0	0	0	0	1	0	0	0	628	912	32	2	1148	2	ANKHD1	5	139825539	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1167824	139825539	41089721	76	90482											
PCDHA6	56142	broad.mit.edu	37	chr5	140209710	140209710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggccaggctccaaaggcGtcatcacgggcgtcggtggg	7	6	17	11	4	2	0	2	0	0	0	4	0	3	0	2	6	0	1	2	6	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:140209710G>A	ENST00000529310.1	+	1	2148	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAAAGGCGTCATCACGGG	0.677													18	81					0	0	0	0	A	140209710	G	A	140209710	2	1	467	1	0	0	0	0	0	0	0	1	11599	1132	40	1		1	PCDHA6	5	140209710	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	384171	140209710	40705550	77	90483											
PCDHA8	56140	broad.mit.edu	37	chr5	140222515	140222515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagttccaggtgagcGcgcgcgacgcgggcgtgccg	4	6	18	13	8	0	1	0	1	0	0	1	2	1	1	2	2	4	3	2	2	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:140222515G>A	ENST00000531613.1	+	1	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A537T|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGAGCGCGCGCGACGC	0.667													27	155					0	0	0	0	A	140222515	G	A	140222515	3	1	467	1	0	0	0	0	1	0	0	0	11601	1087	38	1	1611	1	PCDHA8	5	140222515	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	12805	140222515	40692745	78	90484											
PCDHB6	56130	broad.mit.edu	37	chr5	140530760	140530760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagaaaggctttggattttGaggaaattcagtcttatgac	12	14	11	4	0	2	3	1	3	1	1	2	6	2	5	0	3	0	1	0	3	3	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:140530760G>A	ENST00000231136.1	+	1	922	c.922G>A	c.(922-924)Gag>Aag	p.E308K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E172K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		308	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGATTTTGAGGAAATTCA	0.458													17	63					0	0	0	0	A	140530760	G	A	140530760	3	1	467	1	0	0	0	0	1	0	0	0	11617	1291	45	2	924	2	PCDHB6	5	140530760	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	308245	140530760	40384500	79	90485											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744753	140744753	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcttttcgcaatgaagaaGaaaaaatttcggagactttc	15	12	7	7	2	1	4	0	1	1	3	4	5	1	4	0	1	0	1	0	1	6	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:140744753G>C	ENST00000518069.1	+	1	856	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGAAGAAGAAAAAATTTC	0.448													11	49					0	0	0	0	C	140744753	G	C	140744753	3	2	467	1	0	0	0	0	1	0	0	0	11628	943	33	2	858	2	PCDHGA5	5	140744753	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	213993	140744753	40170507	80	90486											
EBF1	1879	broad.mit.edu	37	chr5	158522676	158522676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgtagaaatcctgctccgtCcttatccctagggttggaaa	10	11	9	11	2	0	1	0	0	0	1	4	2	4	2	4	2	1	3	4	2	5	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:158522676C>T	ENST00000313708.6	-	4	645	c.363G>A	c.(361-363)agG>agA	p.R121R	EBF1_ENST00000380654.4_Silent_p.R121R|EBF1_ENST00000517373.1_Silent_p.R121R|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	121					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGCTCCGTCCTTATCCCTA	0.453			T	HMGA2	lipoma								10	42					0	0	0	0	T	158522676	C	T	158522676	2	4	467	1	0	0	0	0	0	0	0	1	4916	854	30	2		2	EBF1	5	158522676	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	17777923	158522676	22392584	81	90487											
HIVEP1	3096	broad.mit.edu	37	chr6	12123724	12123724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttgtccggcagcacaacatCcaagttccagagattttggt	10	11	9	11	1	0	1	0	0	0	1	3	2	3	1	3	2	2	3	3	2	2	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:12123724C>G	ENST00000379388.2	+	4	4028	c.3696C>G	c.(3694-3696)atC>atG	p.I1232M		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1232					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCACAACATCCAAGTTCCAG	0.493													6	57					0	0	0	0	G	12123724	C	G	12123724	3	3	467	1	0	0	0	0	1	0	0	0	7236	845	30	2	3706	2	HIVEP1	6	12123724	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08		12123724	158991343	82	90488											
BTN1A1	696	broad.mit.edu	37	chr6	26508294	26508294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttgttgcagaatggAaaaaggctaccttgcatgca	11	13	9	8	0	1	1	0	0	1	1	2	2	1	2	1	2	4	5	1	2	4	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:26508294A>G	ENST00000244513.6	+	6	952	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	296	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGCAGAATGGAAAAAGGCTAC	0.403													16	157					0	0	0	0	G	26508294	A	G	26508294	3	3	467	1	0	0	0	0	1	0	0	0	1568	247	9	5	908	5	BTN1A1	6	26508294	Missense_Mutation	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	14384570	26508294	144606773	83	90489											
ZNF184	7738	broad.mit.edu	37	chr6	27424610	27424610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatgacttacctgcaCaggtacctactggaatgctt	10	11	8	12	0	0	1	0	1	0	0	1	2	1	2	3	2	5	4	3	2	4	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:27424610C>T	ENST00000211936.6	-	5	577	c.293G>A	c.(292-294)tGt>tAt	p.C98Y	ZNF184_ENST00000377419.1_Missense_Mutation_p.C98Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTACCTGCACAGGTACCTAC	0.438													4	99					0	0	0	0	T	27424610	C	T	27424610	3	4	467	1	0	0	0	0	1	0	0	0	17846	478	17	4	1970	4	ZNF184	6	27424610	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	916316	27424610	143690457	84	90490											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833210	27833210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcgtgccggtctccagttCcccgtgggccgagtgcaccg	3	9	13	16	5	2	0	0	0	2	0	5	1	3	0	6	2	2	2	6	2	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:27833210C>T	ENST00000357320.2	+	1	177	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	26					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GTCTCCAGTTCCCCGTGGGCC	0.657													20	126					0	0	0	0	T	27833210	C	T	27833210	2	4	467	1	0	0	0	0	0	0	0	1	7188	854	30	2		2	HIST1H2AL	6	27833210	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	408600	27833210	143281857	85	90491											
SCAND3	114821	broad.mit.edu	37	chr6	28541039	28541039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagccagttcctgaatacgtCgagctatggtgtcattggaa	10	12	11	8	2	1	1	1	1	0	0	3	3	2	2	2	2	3	2	2	2	5	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:28541039C>T	ENST00000452236.2	-	4	3244	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	876					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ctgaatacgtcgagctatggt	0.383													28	151					0	0	0	0	T	28541039	C	T	28541039	3	4	467	1	0	0	0	0	1	0	0	0	13962	884	31	1	1354	1	SCAND3	6	28541039	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	707829	28541039	142574028	86	90492											
TUBB	203068	broad.mit.edu	37	chr6	30691431	30691431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttggtagagaatactgatGagacctattgcattgacaac	14	11	10	6	0	0	4	0	3	0	2	0	6	0	4	1	1	3	3	1	1	5	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:30691431G>C	ENST00000396389.1	+	4	1131	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	TUBB_ENST00000396384.1_Missense_Mutation_p.E126Q|TUBB_ENST00000327892.8_Missense_Mutation_p.E198Q|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000330914.3_Missense_Mutation_p.E126Q|TUBB_ENST00000435534.1_Intron			P07437	TBB5_HUMAN	tubulin, beta class I	198					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GAATACTGATGAGACCTATTG	0.522													6	113					0	0	0	0	C	30691431	G	C	30691431	3	2	467	1	0	0	0	0	1	0	0	0	16848	1291	45	2	606	2	TUBB	6	30691431	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2150392	30691431	140423636	87	90493											
TNXB	7148	broad.mit.edu	37	chr6	32050096	32050096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccctggacttgggtcactCtgaggcactaggaagagtgg	8	9	15	9	0	2	2	1	1	1	1	3	4	3	4	1	5	0	1	1	5	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:32050096C>G	ENST00000375244.3	-	9	3654	c.3453G>C	c.(3451-3453)caG>caC	p.Q1151H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q1151H			P22105	TENX_HUMAN	tenascin XB	1238	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTGGGTCACTCTGAGGCACTA	0.572													9	94					0	0	0	0	G	32050096	C	G	32050096	3	3	467	1	0	0	0	0	1	0	0	0	16440	912	32	2	11404	2	TNXB	6	32050096	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1358665	32050096	139064971	88	90494											
TBC1D22B	55633	broad.mit.edu	37	chr6	37250011	37250011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcaatcactccctctcCggcccatcatccccctcgtt	8	9	4	20	2	3	0	2	0	1	0	7	0	5	0	5	1	2	2	5	1	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:37250011C>T	ENST00000373491.3	+	4	618	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	158						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			ACTCCCTCTCCGGCCCATCAT	0.537													13	61					0	0	0	0	T	37250011	C	T	37250011	3	4	467	1	0	0	0	0	1	0	0	0	15703	643	23	1	486	1	TBC1D22B	6	37250011	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	5199915	37250011	133865056	89	90495											
FRS3	10817	broad.mit.edu	37	chr6	41739249	41739249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcatcttcactggccGgtgtgttgacataggtgtgg	5	13	16	7	1	3	1	2	1	1	0	3	1	3	1	1	6	0	1	1	6	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:41739249G>A	ENST00000373018.3	-	7	838	c.587C>T	c.(586-588)cCg>cTg	p.P196L	FRS3_ENST00000259748.2_Missense_Mutation_p.P196L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	196					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCACTGGCCGGTGTGTTGAC	0.627													18	122					0	0	0	0	A	41739249	G	A	41739249	3	1	467	1	0	0	0	0	1	0	0	0	6110	1116	39	1	895	1	FRS3	6	41739249	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	4489238	41739249	129375818	90	90496											
LMBRD1	55788	broad.mit.edu	37	chr6	70428941	70428941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcttctagtgccttttatCagatttaaaggtaacgcaga	11	13	9	8	2	2	2	1	0	1	2	2	2	2	2	1	1	2	3	1	1	5	7			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:70428941C>T	ENST00000370577.3	-	8	898	c.669G>A	c.(667-669)ctG>ctA	p.L223L	LMBRD1_ENST00000370570.1_Silent_p.L150L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	223					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGCCTTTTATCAGATTTAAAG	0.313													10	63					0	0	0	0	T	70428941	C	T	70428941	2	4	467	1	0	0	0	0	0	0	0	1	8897	813	29	2		2	LMBRD1	6	70428941	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	28689692	70428941	100686126	91	90497											
CD109	135228	broad.mit.edu	37	chr6	74492437	74492437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagtccacatgtccgaaaGcattttccagagacttggat	12	10	9	10	1	0	1	0	0	0	1	3	4	3	2	3	1	2	2	3	1	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:74492437G>A	ENST00000437994.2	+	18	2495	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K	CD109_ENST00000287097.5_Silent_p.K688K|CD109_ENST00000422508.2_Silent_p.K611K	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	688	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGTCCGAAAGCATTTTCCAG	0.348													80	68					0	0	0	0	A	74492437	G	A	74492437	2	1	467	1	0	0	0	0	0	0	0	1	2992	962	34	4		4	CD109	6	74492437	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	4063496	74492437	96622630	92	90498											
TTK	7272	broad.mit.edu	37	chr6	80749472	80749472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgtactatatgacttacggGaaaacaccatttcagcagat	14	12	7	8	1	1	2	1	1	0	1	1	3	1	3	1	1	4	2	1	1	6	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:80749472G>A	ENST00000509894.1	+	19	3016	c.2187G>A	c.(2185-2187)ggG>ggA	p.G729G	TTK_ENST00000230510.3_Silent_p.G729G|TTK_ENST00000369798.2_Silent_p.G730G			P33981	TTK_HUMAN	TTK protein kinase	730	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGACTTACGGGAAAACACCAT	0.313													5	198					0	0	0	0	A	80749472	G	A	80749472	2	1	467	1	0	0	0	0	0	0	0	1	16816	1161	41	2		2	TTK	6	80749472	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	6257035	80749472	90365595	93	90499											
ZNF292	23036	broad.mit.edu	37	chr6	87969626	87969626	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaaaaggaggagaaaaaAcgaaagaagccagtttccca	22	3	10	6	1	0	3	0	0	0	3	1	6	1	4	2	2	2	1	2	2	8	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:87969626A>G	ENST00000369577.3	+	8	6322	c.6279A>G	c.(6277-6279)aaA>aaG	p.K2093K	ZNF292_ENST00000339907.4_Silent_p.K2088K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGGAGAAAAAACGAAAGAAGC	0.403													52	32					0	0	0	0	G	87969626	A	G	87969626	2	3	467	1	0	0	0	0	0	0	0	1	17921	40	2	5		5	ZNF292	6	87969626	Silent	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	7220154	87969626	83145441	94	90500											
GRIK2	2898	broad.mit.edu	37	chr6	102516358	102516358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacacatttaacgacagaaGgttgccaggtaaagaaacca	17	6	9	9	1	0	2	0	0	0	2	0	3	0	2	2	2	3	3	2	2	5	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:102516358G>C	ENST00000421544.1	+	16	3189	c.2699G>C	c.(2698-2700)aGg>aCg	p.R900T	GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R824T|GRIK2_ENST00000369134.4_Missense_Mutation_p.R851T|GRIK2_ENST00000369138.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	900					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AACGACAGAAGGTTGCCAGGT	0.443													6	64					0	0	0	0	C	102516358	G	C	102516358	3	2	467	1	0	0	0	0	1	0	0	0	6824	1000	35	4	2934	4	GRIK2	6	102516358	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	14546732	102516358	68598709	95	90501											
NR2E1	7101	broad.mit.edu	37	chr6	108497868	108497868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacgcagctggagccgcacGgcctggagctggccgcggtg	5	5	17	14	5	1	0	1	0	0	0	1	2	1	2	3	5	3	4	3	5	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:108497868G>A	ENST00000368986.4	+	4	1129	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	NR2E1_ENST00000368983.3_Missense_Mutation_p.G178S|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	141					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGAGCCGCACGGCCTGGAGCT	0.716													3	10					0	0	0	0	A	108497868	G	A	108497868	3	1	467	1	0	0	0	0	1	0	0	0	10696	1116	39	1	435	1	NR2E1	6	108497868	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	5981510	108497868	62617199	96	90502											
REV3L	5980	broad.mit.edu	37	chr6	111689164	111689164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtccttccaaggaaaagtCtccctcaaactcagccagat	14	8	6	13	0	3	1	2	0	1	1	6	2	5	2	4	1	2	0	4	1	5	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:111689164C>T	ENST00000435970.1	-	16	6409	c.5593G>A	c.(5593-5595)Gac>Aac	p.D1865N	REV3L_ENST00000358835.3_Missense_Mutation_p.D1943N|REV3L_ENST00000368802.3_Missense_Mutation_p.D1943N|REV3L_ENST00000368805.1_Missense_Mutation_p.D1943N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1943	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGGAAAAGTCTCCCTCAAAC	0.458								DNA polymerases (catalytic subunits)					15	75					0	0	0	0	T	111689164	C	T	111689164	3	4	467	1	0	0	0	0	1	0	0	0	13322	913	32	2	3641	2	REV3L	6	111689164	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3191296	111689164	59425903	97	90503											
NT5DC1	221294	broad.mit.edu	37	chr6	116422175	116422175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtgtcgctacaacctgcccGagagcgccccggtgagtggc	6	7	14	14	4	0	2	0	1	0	1	1	3	0	2	4	2	4	1	4	2	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:116422175G>C	ENST00000319550.4	+	1	164	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	28							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		CAACCTGCCCGAGAGCGCCCC	0.692													5	34					0	0	0	0	C	116422175	G	C	116422175	3	2	467	1	0	0	0	0	1	0	0	0	10761	1059	37	3	84	3	NT5DC1	6	116422175	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	4733011	116422175	54692892	98	90504											
PDCD2	5134	broad.mit.edu	37	chr6	170888047	170888048	+	Frame_Shift_Ins	INS	-	-	T																															tgggggcaatacctctgccaINStatctaagaatctaaaatca																										TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:170888047_170888048insT	ENST00000541970.1	-	5	851_852	c.773_774insA	c.(772-774)tggfs	p.W258fs	PDCD2_ENST00000392090.2_Frame_Shift_Ins_p.W225fs|PDCD2_ENST00000542896.1_Frame_Shift_Ins_p.W258fs	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	258					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TACCTCTGCCATATCTAAGAAT	0.376													13	108	---	---	---	---					T	170888048	-	T	170888047	7	5	467	1	0	1	1	0	0	0	0	0	11690	224	8	0	268	0	PDCD2	6	170888047	Frame_Shift_Ins	INS	-	TCGA-P3-A6T5-01A-11D-A34J-08	54465872	170888047	227020	99	90505											
ICA1	3382	broad.mit.edu	37	chr7	8257989	8257989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaagctcctgagacacGtccttcatccataatagtgc	11	10	8	12	1	2	1	2	1	0	1	5	3	5	2	3	1	2	1	3	1	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:8257989G>A	ENST00000402384.3	-	6	791	c.525C>T	c.(523-525)gaC>gaT	p.D175D	ICA1_ENST00000422063.2_Silent_p.D175D|ICA1_ENST00000406470.2_Silent_p.D175D|ICA1_ENST00000396675.3_Silent_p.D175D|ICA1_ENST00000407906.1_Silent_p.D175D|ICA1_ENST00000265577.7_Silent_p.D174D|ICA1_ENST00000401396.1_Silent_p.D163D			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	175	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCTGAGACACGTCCTTCATCC	0.502													38	91					0	0	0	0	A	8257989	G	A	8257989	2	1	467	1	0	0	0	0	0	0	0	1	7530	1136	40	1		1	ICA1	7	8257989	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		8257989	150880674	100	90506											
HDAC9	9734	broad.mit.edu	37	chr7	18688178	18688178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaaattgccccgtcacAgacccctgaaccgaacccag	12	4	6	19	2	1	2	1	1	0	1	1	3	1	2	7	0	3	0	7	0	3	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:18688178A>G	ENST00000406451.3	+	11	1480	c.1330A>G	c.(1330-1332)Aga>Gga	p.R444G	HDAC9_ENST00000441542.2_Missense_Mutation_p.R447G|HDAC9_ENST00000432645.2_Missense_Mutation_p.R444G|HDAC9_ENST00000405010.3_Missense_Mutation_p.R444G|HDAC9_ENST00000401921.1_Missense_Mutation_p.R403G|HDAC9_ENST00000524023.1_Missense_Mutation_p.R367G|HDAC9_ENST00000428307.2_Missense_Mutation_p.R400G|HDAC9_ENST00000417496.2_Missense_Mutation_p.R442G|HDAC9_ENST00000456174.2_Missense_Mutation_p.R416G|HDAC9_ENST00000406072.1_Missense_Mutation_p.R431G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	444					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCCCGTCACAGACCCCTGAA	0.498													14	83					0	0	0	0	G	18688178	A	G	18688178	3	3	467	1	0	0	0	0	1	0	0	0	7064	180	7	5	1377	5	HDAC9	7	18688178	Missense_Mutation	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	10430189	18688178	140450485	101	90507											
C7orf31	136895	broad.mit.edu	37	chr7	25191214	25191214	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatttaaaaagatacttaCatcataatatacaccttgac	18	12	2	9	0	1	2	1	1	0	1	1	2	1	2	1	0	3	0	1	0	8	8	rs140021144	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:25191214C>G	ENST00000409280.1	-	7	993		c.e7+1		C7orf31_ENST00000283905.3_Splice_Site			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AAGATACTTACATCATAATAT	0.323													5	43					0	0	0	0	G	25191214	C	G	25191214	5	3	467	1	0	0	0	0	0	0	1	0	2410	492	17	4	1103	4	C7orf31	7	25191214	Splice_Site	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	6503036	25191214	133947449	102	90508											
KBTBD2	25948	broad.mit.edu	37	chr7	32909721	32909721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaagatggctttatgcGgacaaaaagcattggggtct	14	9	11	7	1	1	1	0	0	1	1	1	2	1	2	1	4	3	2	1	4	5	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:32909721G>A	ENST00000304056.4	-	4	1807	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGCTTTATGCGGACAAAAAGC	0.423													16	165					0	0	0	0	A	32909721	G	A	32909721	3	1	467	1	0	0	0	0	1	0	0	0	8046	1116	39	1	767	1	KBTBD2	7	32909721	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	7718507	32909721	126228942	103	90509											
ELMO1	9844	broad.mit.edu	37	chr7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccttgacgatgtccgCgggtggcggcattgtaagtc	6	9	15	11	4	0	1	0	1	0	0	2	2	1	1	3	4	0	2	3	4	1	3	rs146510671		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502													25	175					0	0	0	0	T	37382282	C	T	37382282	3	4	467	1	0	0	0	0	1	0	0	0	5103	768	27	1	2254	1	ELMO1	7	37382282	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	4472561	37382282	121756381	104	90510											
EGFR	1956	broad.mit.edu	37	chr7	55260487	55260487	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtggatggcattggaatCaattttacacagaatctata	15	12	8	6	0	2	1	1	0	1	1	2	3	2	3	0	3	1	1	0	3	7	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:55260487C>G	ENST00000275493.2	+	22	2831	c.2654C>G	c.(2653-2655)tCa>tGa	p.S885*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.S840*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.S832*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	885	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCATTGGAATCAATTTTACAC	0.438		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	76					0	0	0	0	G	55260487	C	G	55260487	4	3	467	1	0	0	0	0	0	1	0	0	5003	838	29	2	3004	2	EGFR	7	55260487	Nonsense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	17878205	55260487	103878176	105	90511											
ELN	2006	broad.mit.edu	37	chr7	73474269	73474269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgtggctcctggtgtcGgtgtggctcctggagttggc	1	13	18	9	2	0	0	0	0	0	0	3	1	2	1	2	7	0	3	2	7	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:73474269G>T	ENST00000252034.7	+	23	1867	c.1468G>T	c.(1468-1470)Ggt>Tgt	p.G490C	ELN_ENST00000380584.4_Missense_Mutation_p.G457C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000320399.6_Missense_Mutation_p.G490C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCTGGTGTCGGTGTGGCTCC	0.602			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						36	223					2.51541e-25	2.75497e-25	1	0	T	73474269	G	T	73474269	3	4	467	1	0	0	0	0	1	0	0	0	5109	1116	39	3	1573	3	ELN	7	73474269	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	18213782	73474269	85664394	106	90512											
DMTF1	9988	broad.mit.edu	37	chr7	86817523	86817523	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaattccagtgtgcagcaTgttcagataagagttgcccg	11	10	10	10	1	1	2	1	0	0	2	2	2	2	2	3	0	3	4	3	0	2	4	rs149430074		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:86817523T>C	ENST00000414194.2	+	13	2311	c.519T>C	c.(517-519)caT>caC	p.H173H	DMTF1_ENST00000331242.7_Silent_p.H439H|DMTF1_ENST00000394703.5_Silent_p.H439H|DMTF1_ENST00000432937.2_Silent_p.H351H|DMTF1_ENST00000413276.2_Intron			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	439	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GTGTGCAGCATGTTCAGATAA	0.423													50	129					0	0	0	0	C	86817523	T	C	86817523	2	2	467	1	0	0	0	0	0	0	0	1	4629	1461	51	5		5	DMTF1	7	86817523	Silent	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	13343254	86817523	72321140	107	90513											
TECPR1	25851	broad.mit.edu	37	chr7	97851780	97851780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacctggtagcaggccccGatggagatggaggcgaaggg	10	4	17	10	2	0	1	0	0	0	1	0	5	0	2	3	6	1	2	3	6	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:97851780G>A	ENST00000447648.2	-	22	3281	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	TECPR1_ENST00000379795.3_Silent_p.I996I|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	994						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						AGCAGGCCCCGATGGAGATGG	0.711													5	9					0	0	0	0	A	97851780	G	A	97851780	2	1	467	1	0	0	0	0	0	0	0	1	15837	1048	37	1		1	TECPR1	7	97851780	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	11034257	97851780	61286883	108	90514											
NPTX2	4885	broad.mit.edu	37	chr7	98256572	98256572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaggcattccaggaCggagagaagctgggcactgg	10	6	18	7	1	0	1	0	0	0	1	1	5	1	4	1	6	1	3	1	6	1	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642													9	55					0	0	0	0	T	98256572	C	T	98256572	2	4	467	1	0	0	0	0	0	0	0	1	10674	535	19	1		1	NPTX2	7	98256572	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	404792	98256572	60882091	109	90515											
LRCH4	4034	broad.mit.edu	37	chr7	100175784	100175784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacaggacgcccttacctCatttccagaccacctcttgc	8	10	7	16	1	2	1	1	0	1	1	3	3	3	3	5	2	2	0	5	2	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:100175784C>T	ENST00000310300.6	-	7	998	c.946G>A	c.(946-948)Gag>Aag	p.E316K	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	316					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCTTACCTCATTTCCAGAC	0.587													6	28					0	0	0	0	T	100175784	C	T	100175784	3	4	467	1	0	0	0	0	1	0	0	0	8999	835	29	2	1153	2	LRCH4	7	100175784	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1919212	100175784	58962879	110	90516											
ZAN	7455	broad.mit.edu	37	chr7	100366335	100366335	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaagttacctgaatcctCtgaacctgggtgagctgggg	8	10	14	9	0	1	3	0	3	1	0	2	4	2	4	3	4	3	2	3	4	4	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:100366335C>T	ENST00000542585.1	+	0	5292				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGAATCCTCTGAACCTGGG	0.622													3	13					0	0	0	0	T	100366335	C	T	100366335	1	4	467	0	1	0	0	0	0	0	0	0	17609	913	32	2		2	ZAN	7	100366335	RNA	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	190551	100366335	58772328	111	90517											
PIK3CG	5294	broad.mit.edu	37	chr7	106524653	106524653	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaggctactgtgtggcAacctttgttcttggaatagg	7	14	13	7	0	1	0	0	0	1	0	1	1	1	1	1	4	3	4	1	4	4	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:106524653A>G	ENST00000359195.3	+	9	3124	c.2814A>G	c.(2812-2814)gcA>gcG	p.A938A	PIK3CG_ENST00000440650.2_Silent_p.A938A|PIK3CG_ENST00000496166.1_Silent_p.A938A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	938	PI3K/PI4K.				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			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						ACTGTGTGGCAACCTTTGTTC	0.358													27	148					0	0	0	0	G	106524653	A	G	106524653	2	3	467	1	0	0	0	0	0	0	0	1	11988	117	5	5		5	PIK3CG	7	106524653	Silent	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	6158318	106524653	52614010	112	90518											
LRRN3	54674	broad.mit.edu	37	chr7	110763396	110763396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttgatgctcttccaaatCtagagattctgatgattggg	9	15	11	6	0	3	4	0	3	3	1	4	5	4	4	1	2	1	2	1	2	2	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:110763396C>G	ENST00000451085.1	+	4	1614	c.568C>G	c.(568-570)Cta>Gta	p.L190V	LRRN3_ENST00000422987.3_Missense_Mutation_p.L190V|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L190V|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	190						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTTCCAAATCTAGAGATTCT	0.373													18	105					0	0	0	0	G	110763396	C	G	110763396	3	3	467	1	0	0	0	0	1	0	0	0	9100	912	32	2	570	2	LRRN3	7	110763396	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	4238743	110763396	48375267	113	90519											
OPN1SW	611	broad.mit.edu	37	chr7	128415508	128415508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtacctgctacagtgcccaGgaagccctccaaagcacaaa	14	5	8	14	0	0	0	0	0	0	0	1	1	1	1	4	1	6	3	4	1	5	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:128415508G>T	ENST00000249389.2	-	1	336	c.337C>A	c.(337-339)Ctg>Atg	p.L113M		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	113					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ACAGTGCCCAGGAAGCCCTCC	0.547													41	107					1.59932e-28	1.75722e-28	1	0	T	128415508	G	T	128415508	3	4	467	1	0	0	0	0	1	0	0	0	10951	991	35	4	729	4	OPN1SW	7	128415508	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	17652112	128415508	30723155	114	90520											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138437534	138437534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagtgccagttggcagCggcttcctgcagcaggcgct	6	7	15	13	2	0	0	0	0	0	0	1	1	1	1	3	4	4	6	3	4	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:138437534C>A	ENST00000310018.2	-	11	1147	c.865G>T	c.(865-867)Gct>Tct	p.A289S	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A289S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A289S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	289					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGTTGGCAGCGGCTTCCTGC	0.502													26	62					1.39806e-14	1.512e-14	1	0	A	138437534	C	A	138437534	3	1	467	1	0	0	0	0	1	0	0	0	1174	768	27	3	1705	3	ATP6V0A4	7	138437534	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	10022026	138437534	20701129	115	90521											
TAS2R40	259286	broad.mit.edu	37	chr7	142919262	142919262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccggaatagagtgcatcActggcatccttgggagtggc	8	10	13	10	1	2	1	1	0	1	1	4	3	3	3	2	4	1	2	2	4	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:142919262A>G	ENST00000408947.3	+	1	133	c.91A>G	c.(91-93)Act>Gct	p.T31A	AC073342.1_ENST00000595842.1_Silent_p.S33S	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	31					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGAGTGCATCACTGGCATCCT	0.512													15	89					0	0	0	0	G	142919262	A	G	142919262	3	3	467	1	0	0	0	0	1	0	0	0	15669	159	6	5	93	5	TAS2R40	7	142919262	Missense_Mutation	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	4481728	142919262	16219401	116	90522											
MTMR7	9108	broad.mit.edu	37	chr8	17206567	17206569	+	In_Frame_Del	DEL	TTC	TTC	-																															gccgatttgggaacgtacagTtcagtaggataagagtcaca																										TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:17206567_17206569delTTC	ENST00000180173.5	-	5	524_526	c.490_492delGAA	c.(490-492)del	p.E164del	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_In_Frame_Del_p.E164del	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	164	Myotubularin phosphatase.						protein tyrosine phosphatase activity			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)		GAACGTACAGTTCAGTAGGATAA	0.453													13	210	---	---	---	---					-	17206569	TTC	-	17206567	7	5	467	1	0	1	0	1	0	0	0	0	10018	1722	60	0	1530	0	MTMR7	8	17206567	In_Frame_Del	DEL	TTC	TCGA-P3-A6T5-01A-11D-A34J-08		17206567	129157455	117	90523											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19277939	19277939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaggacgttgcttccCttccagaagcgggctccaac	11	7	11	12	2	0	2	0	0	0	2	3	4	3	3	3	2	3	3	3	2	4	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:19277939C>T	ENST00000454498.2	-	7	2057	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	CSGALNACT1_ENST00000332246.6_Silent_p.K348K|CSGALNACT1_ENST00000544602.1_Silent_p.K348K|CSGALNACT1_ENST00000522854.1_Silent_p.K348K|CSGALNACT1_ENST00000311540.4_Silent_p.K348K|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	348					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CGTTGCTTCCCTTCCAGAAGC	0.468													28	93					0	0	0	0	T	19277939	C	T	19277939	2	4	467	1	0	0	0	0	0	0	0	1	3970	680	24	4		4	CSGALNACT1	8	19277939	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2071372	19277939	127086083	118	90524											
NUDT18	79873	broad.mit.edu	37	chr8	21965084	21965084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagcagccgcaggacGgccatcttcatgccacccct	7	7	9	18	2	2	0	1	0	1	0	3	1	3	1	6	2	4	3	6	2	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:21965084G>A	ENST00000309188.6	-	5	817	c.699C>T	c.(697-699)gcC>gcT	p.A233A	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Silent_p.A156A	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	233							hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		GCCGCAGGACGGCCATCTTCA	0.607													36	49					0	0	0	0	A	21965084	G	A	21965084	2	1	467	1	0	0	0	0	0	0	0	1	10806	1103	39	1		1	NUDT18	8	21965084	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2687145	21965084	124398938	119	90525											
TEX15	56154	broad.mit.edu	37	chr8	30704565	30704565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgattgatgaaatgattCttgtgatttatttttatccg	10	21	7	3	1	1	5	0	5	1	0	2	5	2	5	1	0	0	0	1	0	4	10			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:30704565C>G	ENST00000256246.2	-	1	2043	c.1969G>C	c.(1969-1971)Gaa>Caa	p.E657Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	657										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAAATGATTCTTGTGATTTA	0.284													4	65					0	0	0	0	G	30704565	C	G	30704565	3	3	467	1	0	0	0	0	1	0	0	0	15873	922	32	2	6416	2	TEX15	8	30704565	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	8739481	30704565	115659457	120	90526											
SLC10A5	347051	broad.mit.edu	37	chr8	82606635	82606635	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgagacaaaagaaacccGcaaaatggcatcagaaaaaa	22	4	7	8	1	2	3	1	1	1	3	2	4	2	3	1	1	1	2	1	1	8	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:82606635G>A	ENST00000518568.1	-	1	1774	c.573C>T	c.(571-573)tgC>tgT	p.C191C		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	191						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AAAGAAACCCGCAAAATGGCA	0.463													4	125					0	0	0	0	A	82606635	G	A	82606635	2	1	467	1	0	0	0	0	0	0	0	1	14465	1079	38	1		1	SLC10A5	8	82606635	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	51902070	82606635	63757387	121	90527											
PKHD1L1	93035	broad.mit.edu	37	chr8	110530664	110530664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagagtctgaggaggaaGagatccatgggattcataat	14	8	15	4	0	2	3	1	1	1	2	3	8	3	7	1	4	0	0	1	4	3	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:110530664G>A	ENST00000378402.5	+	73	12062	c.11958G>A	c.(11956-11958)aaG>aaA	p.K3986K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3986					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAGGAGGAAGAGATCCATGG	0.398										HNSCC(38;0.096)			17	77					0	0	0	0	A	110530664	G	A	110530664	2	1	467	1	0	0	0	0	0	0	0	1	12044	933	33	2		2	PKHD1L1	8	110530664	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	27924029	110530664	35833358	122	90528											
SNTB1	6641	broad.mit.edu	37	chr8	121823612	121823612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcacggacaggatggcgtCgcccacgtacagggcttggg	7	7	16	11	4	1	0	1	0	0	0	2	2	1	2	1	5	1	3	1	5	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:121823612C>T	ENST00000395601.3	-	2	886	c.472G>A	c.(472-474)Gac>Aac	p.D158N	SNTB1_ENST00000517992.1_Missense_Mutation_p.D158N|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	158	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGATGGCGTCGCCCACGTAC	0.647													33	94					0	0	0	0	T	121823612	C	T	121823612	3	4	467	1	0	0	0	0	1	0	0	0	14960	884	31	1	1172	1	SNTB1	8	121823612	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	11292948	121823612	24540410	123	90529											
HAS2	3037	broad.mit.edu	37	chr8	122641022	122641023	+	Frame_Shift_Ins	INS	-	-	T																															acttctctttttccaccccaINStttttgcatgatgcagatac																										TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:122641022_122641023insT	ENST00000303924.4	-	2	1095_1096	c.558_559insA	c.(556-561)aaggggfs	p.KG186fs		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	186						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTCCACCCCATTTTTGCATGA	0.465													98	313	---	---	---	---					T	122641023	-	T	122641022	7	5	467	1	0	1	1	0	0	0	0	0	7012	217	8	0	1111	0	HAS2	8	122641022	Frame_Shift_Ins	INS	-	TCGA-P3-A6T5-01A-11D-A34J-08	817410	122641022	23723000	124	90530											
ZHX1	11244	broad.mit.edu	37	chr8	124267234	124267234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtatattttgcttgagcaGaaagaactgtaatttctgac	12	15	8	6	0	1	4	0	2	1	2	1	4	1	4	0	0	3	4	0	0	5	7			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:124267234G>A	ENST00000395571.3	-	3	1570	c.953C>T	c.(952-954)tCt>tTt	p.S318F	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S318F|ZHX1_ENST00000522655.1_Missense_Mutation_p.S318F	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	318	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCTTGAGCAGAAAGAACTGT	0.413													38	347					0	0	0	0	A	124267234	G	A	124267234	3	1	467	1	0	0	0	0	1	0	0	0	17770	942	33	2	1672	2	ZHX1	8	124267234	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1626212	124267234	22096788	125	90531											
FBXL6	26233	broad.mit.edu	37	chr8	145580332	145580332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctattacggttgatgccGgtgctcacctccaggacctg	7	11	11	12	2	1	1	1	1	0	0	2	2	2	2	4	3	4	3	4	3	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:145580332G>A	ENST00000331890.5	-	6	985	c.921C>T	c.(919-921)acC>acT	p.T307T	FBXL6_ENST00000455319.2_Silent_p.T301T|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	307					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGTTGATGCCGGTGCTCACCT	0.657													42	71					0	0	0	0	A	145580332	G	A	145580332	2	1	467	1	0	0	0	0	0	0	0	1	5768	1103	39	1		1	FBXL6	8	145580332	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	21313098	145580332	783690	126	90532											
MTAP	4507	broad.mit.edu	37	chr9	21861974	21861974	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctcctttcttcctttcaGaatatggcccagttttctgt	5	18	6	12	0	3	1	1	0	2	1	5	1	5	1	4	1	1	1	4	1	2	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:21861974G>A	ENST00000380172.4	+	8	1019		c.e8-1		RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron|MTAP_ENST00000460874.2_Splice_Site	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase						nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	CTTCCTTTCAGAATATGGCCC	0.353													26	155					0	0	0	0	A	21861974	G	A	21861974	5	1	467	1	0	0	0	0	0	0	1	0	9981	956	33	2	843	2	MTAP	9	21861974	Splice_Site	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		21861974	119351457	127	90533											
PLAA	9373	broad.mit.edu	37	chr9	26910414	26910414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatattcattgttttagatgCagctgatcggtaggcactat	11	15	9	6	1	1	2	1	1	0	1	2	2	1	2	0	2	2	5	0	2	5	7			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:26910414C>T	ENST00000397292.3	-	12	1996	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	PLAA_ENST00000520884.1_Missense_Mutation_p.A527T	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	527					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GTTTTAGATGCAGCTGATCGG	0.303													10	134					0	0	0	0	T	26910414	C	T	26910414	3	4	467	1	0	0	0	0	1	0	0	0	12083	710	25	4	820	4	PLAA	9	26910414	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	5048440	26910414	114303017	128	90534											
SMU1	55234	broad.mit.edu	37	chr9	33056956	33056956	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgtccactctgaatctTccacacctttatttgaaaaa	13	14	3	11	0	2	2	0	2	2	0	4	2	4	2	3	0	0	0	3	0	4	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:33056956T>A	ENST00000397149.3	-	8	924	c.874A>T	c.(874-876)Aag>Tag	p.K292*	SMU1_ENST00000536631.1_Nonsense_Mutation_p.K131*	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	292						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTCTGAATCTTCCACACCTTT	0.383													82	165					0	0	0	0	A	33056956	T	A	33056956	4	1	467	1	0	0	0	0	0	1	0	0	14905	1792	62	5	687	5	SMU1	9	33056956	Nonsense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	6146542	33056956	108156475	129	90535											
EXOSC3	51010	broad.mit.edu	37	chr9	37785032	37785032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcagccgcgacagacgcagGttcggccatcgcgggctcca	7	6	13	15	6	1	1	1	0	0	1	4	2	2	1	3	3	1	3	3	3	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:37785032G>C	ENST00000327304.5	-	1	22	c.10C>G	c.(10-12)Cct>Gct	p.P4A	EXOSC3_ENST00000396521.3_Missense_Mutation_p.P4A|RP11-613M10.9_ENST00000540557.1_Intron	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	4					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		ACAGACGCAGGTTCGGCCATC	0.667													7	26					0	0	0	0	C	37785032	G	C	37785032	3	2	467	1	0	0	0	0	1	0	0	0	5353	1261	44	4	833	4	EXOSC3	9	37785032	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	4728076	37785032	103428399	130	90536											
GNA14	9630	broad.mit.edu	37	chr9	80046346	80046346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatggtgtggcgatgcGgtcaatgtcagtcaggtaac	10	10	15	6	2	3	1	3	1	0	0	3	3	3	1	0	4	2	1	0	4	3	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:80046346G>A	ENST00000341700.6	-	4	997	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	162					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GTGGCGATGCGGTCAATGTCA	0.498													12	74					0	0	0	0	A	80046346	G	A	80046346	3	1	467	1	0	0	0	0	1	0	0	0	6553	1116	39	1	599	1	GNA14	9	80046346	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	42261314	80046346	61167085	131	90537											
SEMA4D	10507	broad.mit.edu	37	chr9	92003563	92003563	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcaccgctccaggccgCggcttgggtaccgggccatt	5	7	13	16	4	1	0	1	0	0	0	2	0	2	0	5	4	2	4	5	4	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:92003563C>T	ENST00000450295.1	-	11	1871	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	SEMA4D_ENST00000356444.2_Silent_p.P365P|SEMA4D_ENST00000438547.2_Silent_p.P365P|SEMA4D_ENST00000422704.2_Silent_p.P365P|SEMA4D_ENST00000420987.1_Silent_p.P365P|SEMA4D_ENST00000339861.4_Silent_p.P365P|SEMA4D_ENST00000455551.2_Silent_p.P365P|SEMA4D_ENST00000343780.4_Silent_p.P365P			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	365	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCAGGCCGCGGCTTGGGTA	0.652													28	9					0	0	0	0	T	92003563	C	T	92003563	2	4	467	1	0	0	0	0	0	0	0	1	14121	755	27	1		1	SEMA4D	9	92003563	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	11957217	92003563	49209868	132	90538											
SVEP1	79987	broad.mit.edu	37	chr9	113169072	113169072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggaatctctgcatcccaGttgccatctgactgacaggt	10	10	10	11	0	2	3	0	2	2	1	4	4	3	4	2	2	2	2	2	2	1	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:113169072G>T	ENST00000401783.2	-	38	9144	c.8808C>A	c.(8806-8808)aaC>aaA	p.N2936K	SVEP1_ENST00000374469.1_Missense_Mutation_p.N2913K|SVEP1_ENST00000297826.5_Missense_Mutation_p.N862K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2936	Sushi 25.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCATCCCAGTTGCCATCTG	0.493													218	98					2.91285e-89	3.21065e-89	1	0	T	113169072	G	T	113169072	3	4	467	1	0	0	0	0	1	0	0	0	15510	1020	36	4	1951	4	SVEP1	9	113169072	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	21165509	113169072	28044359	133	90539											
AKNA	80709	broad.mit.edu	37	chr9	117143419	117143419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccactccaggggcggcagGtgctgctgggccaggcggaa	6	5	17	13	2	0	0	0	0	0	0	2	1	2	1	3	7	2	3	3	7	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:117143419G>A	ENST00000307564.4	-	2	356	c.195C>T	c.(193-195)caC>caT	p.H65H	AKNA_ENST00000312033.3_Silent_p.H65H|AKNA_ENST00000374088.3_Silent_p.H65H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGGCGGCAGGTGCTGCTGGG	0.607													5	49					0	0	0	0	A	117143419	G	A	117143419	2	1	467	1	0	0	0	0	0	0	0	1	463	1252	44	4		4	AKNA	9	117143419	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	3974347	117143419	24070012	134	90540											
ASTN2	23245	broad.mit.edu	37	chr9	119738445	119738445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccagatcatagcccctctCaagtgtcgtgtagggccaag	10	8	10	13	1	2	1	2	0	1	1	4	1	2	1	4	1	1	1	4	1	4	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:119738445C>G	ENST00000313400.4	-	9	1799	c.1699G>C	c.(1699-1701)Gag>Cag	p.E567Q	ASTN2_ENST00000373996.3_Missense_Mutation_p.E567Q|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.E516Q			O75129	ASTN2_HUMAN	astrotactin 2	567						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TAGCCCCTCTCAAGTGTCGTG	0.498													15	36					0	0	0	0	G	119738445	C	G	119738445	3	3	467	1	0	0	0	0	1	0	0	0	1069	835	29	2	2612	2	ASTN2	9	119738445	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2595026	119738445	21474986	135	90541											
ASTN2	23245	broad.mit.edu	37	chr9	119738468	119738468	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtcgtgtagggccaaggtCtatgggaagaaggagagggg	10	7	20	4	1	1	2	0	0	1	2	2	4	1	3	1	6	0	1	1	6	5	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:119738468C>G	ENST00000313400.4	-	9	1777		c.e9-1		ASTN2_ENST00000373996.3_Splice_Site|ASTN2_ENST00000361477.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site			O75129	ASTN2_HUMAN	astrotactin 2							integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGCCAAGGTCTATGGGAAGA	0.493													13	38					0	0	0	0	G	119738468	C	G	119738468	5	3	467	1	0	0	0	0	0	0	1	0	1069	927	32	2	2635	2	ASTN2	9	119738468	Splice_Site	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	23	119738468	21474963	136	90542											
SPTAN1	6709	broad.mit.edu	37	chr9	131339447	131339447	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttggattaaggaaaaggaGcagttaatggcctctgatga	14	10	13	4	0	1	2	0	2	1	0	1	5	1	5	1	4	1	3	1	4	4	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:131339447G>A	ENST00000358161.5	+	7	938	c.825G>A	c.(823-825)gaG>gaA	p.E275E	SPTAN1_ENST00000372731.4_Silent_p.E275E|SPTAN1_ENST00000372739.3_Silent_p.E275E			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	275					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGAAAAGGAGCAGTTAATGG	0.488													27	213					0	0	0	0	A	131339447	G	A	131339447	2	1	467	1	0	0	0	0	0	0	0	1	15207	962	34	4		4	SPTAN1	9	131339447	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	11600979	131339447	9873984	137	90543											
INPP5E	56623	broad.mit.edu	37	chr9	139333155	139333155	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaggccagggggctccgCggccggccggggcccaggct	3	3	19	16	5	0	0	0	0	0	0	2	0	1	0	5	8	0	3	5	8	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:139333155C>A	ENST00000371712.3	-	1	1119	c.717G>T	c.(715-717)ccG>ccT	p.P239P		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	239	13 X 4 AA repeats of P-X-X-P.					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGGGCTCCGCGGCCGGCCGG	0.687													6	20					0.00116845	0.00119264	1	0	A	139333155	C	A	139333155	2	1	467	1	0	0	0	0	0	0	0	1	7810	755	27	3		3	INPP5E	9	139333155	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	7993708	139333155	1880276	138	90544											
ANAPC2	29882	broad.mit.edu	37	chr9	140082436	140082436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctgcagatcgttctgCagcacctccacgaaccactc	8	9	8	16	2	1	1	0	0	1	1	4	2	2	1	4	1	4	4	4	1	1	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:140082436C>T	ENST00000323927.2	-	2	241	c.237G>A	c.(235-237)ctG>ctA	p.L79L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GATCGTTCTGCAGCACCTCCA	0.612													10	47					0	0	0	0	T	140082436	C	T	140082436	2	4	467	1	0	0	0	0	0	0	0	1	603	697	25	4		4	ANAPC2	9	140082436	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	749281	140082436	1130995	139	90545											
PLXDC2	84898	broad.mit.edu	37	chr10	20506361	20506361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctcttactagtcaaaaGagaagatgtgtgagaataca	15	13	8	5	0	2	3	1	1	1	3	3	5	2	3	0	0	2	0	0	0	7	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:20506361G>C	ENST00000377252.3	+	11	1970	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	377						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGTCAAAAGAGAAGATGTG	0.418													8	45					0	0	0	0	C	20506361	G	C	20506361	3	2	467	1	0	0	0	0	1	0	0	0	12190	943	33	2	1171	2	PLXDC2	10	20506361	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		20506361	115028386	140	90546											
MAP3K8	1326	broad.mit.edu	37	chr10	30749638	30749638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttttccttttcagattCttcgtgcacaggaagcaccg	9	14	8	10	2	2	1	1	0	1	1	4	2	3	2	2	1	2	3	2	1	2	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:30749638C>A	ENST00000263056.1	+	9	1973	c.1277C>A	c.(1276-1278)tCt>tAt	p.S426Y	MAP3K8_ENST00000542547.1_Missense_Mutation_p.S426Y|MAP3K8_ENST00000375321.1_Missense_Mutation_p.S426Y	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	426			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				TTTTCAGATTCTTCGTGCACA	0.438													8	35					0.000157383	0.000161599	1	0	A	30749638	C	A	30749638	3	1	467	1	0	0	0	0	1	0	0	0	9325	913	32	2	1303	2	MAP3K8	10	30749638	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	10243277	30749638	104785109	141	90547											
CCDC7	221016	broad.mit.edu	37	chr10	32751975	32751975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggtcaatcagatggaaGaagtaagtctaacgttttaa	15	10	11	5	1	3	2	2	0	1	2	3	3	3	3	0	3	1	3	0	3	6	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:32751975G>A	ENST00000545067.1	+	6	804	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	CCDC7_ENST00000277657.6_Missense_Mutation_p.E170K|CCDC7_ENST00000362006.5_Missense_Mutation_p.E170K|CCDC7_ENST00000535327.1_Missense_Mutation_p.E170K|CCDC7_ENST00000539197.1_Missense_Mutation_p.E170K|CCDC7_ENST00000537047.1_Missense_Mutation_p.E170K			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	170										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCAGATGGAAGAAGTAAGTCT	0.264													6	37					0	0	0	0	A	32751975	G	A	32751975	3	1	467	1	0	0	0	0	1	0	0	0	2869	943	33	2	526	2	CCDC7	10	32751975	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2002337	32751975	102782772	142	90548											
AGAP11	119385	broad.mit.edu	37	chr10	88767879	88767880	+	RNA	INS	-	-	T																															ttttttttcttttttctttcINStttttttttttttttagtaa																								rs71019447		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:88767879_88767880insT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ttttttctttcttttttttttt	0.455													5	1	---	---	---	---					T	88767880	-	T	88767879	6	5	467	0	1	1	1	0	0	0	0	0	367	928	32	0		0	AGAP11	10	88767879	RNA	INS	-	TCGA-P3-A6T5-01A-11D-A34J-08	56015904	88767879	46766868	143	90549											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389933	93389933	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattagcatggtaagaaatGcagaactcaattttctgctc	13	12	7	9	0	2	2	1	0	1	2	3	2	2	2	1	1	4	4	1	1	5	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:93389933G>T	ENST00000238994.5	-	2	789	c.705C>A	c.(703-705)tgC>tgA	p.C235*		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	235	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GGTAAGAAATGCAGAACTCAA	0.408													21	85					4.35082e-09	4.63281e-09	1	0	T	93389933	G	T	93389933	4	4	467	1	0	0	0	0	0	1	0	0	12449	1311	46	4	252	4	PPP1R3C	10	93389933	Nonsense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	4622054	93389933	42144814	144	90550											
CYP26A1	1592	broad.mit.edu	37	chr10	94834728	94834728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgaaccccaactggcgggcGacggggactccgagcagcag	9	2	16	14	5	0	0	0	0	0	0	1	4	1	1	3	4	4	2	3	4	2	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:94834728G>A	ENST00000371531.1	+	3	778	c.400G>A	c.(400-402)Gac>Aac	p.D134N	CYP26A1_ENST00000394139.1_Missense_Mutation_p.D134N|CYP26A1_ENST00000224356.4_Missense_Mutation_p.D203N	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	203					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				ACTGGCGGGCGACGGGGACTC	0.657													15	83					0	0	0	0	A	94834728	G	A	94834728	3	1	467	1	0	0	0	0	1	0	0	0	4187	1058	37	1	617	1	CYP26A1	10	94834728	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1444795	94834728	40700019	145	90551											
TSPAN32	10077	broad.mit.edu	37	chr11	2339129	2339129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggtgggctcagtgggtGccctgagcggggtctctcag	3	9	18	11	3	3	1	2	1	1	0	5	1	3	1	1	5	2	1	1	5	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:2339129G>A	ENST00000182290.4	+	10	1075	c.938G>A	c.(937-939)tGc>tAc	p.C313Y	TSPAN32_ENST00000451520.2_Missense_Mutation_p.C302Y|TSPAN32_ENST00000381121.3_Silent_p.V252V	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	313					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ctcagtgggtgccctgagcgg	0.597													4	23					0	0	0	0	A	2339129	G	A	2339129	3	1	467	1	0	0	0	0	1	0	0	0	16742	1319	46	4	976	4	TSPAN32	11	2339129	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		2339129	132667387	146	90552											
PHLDA2	7262	broad.mit.edu	37	chr11	2950497	2950497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaacaggctcaggcggtcgGaggtgagcaccccgcgcttc	7	5	16	13	4	1	1	1	1	0	0	3	3	1	3	2	6	2	3	2	6	1	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:2950497G>A	ENST00000314222.4	-	1	188	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	33	PH.				apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCGGTCGGAGGTGAGCAC	0.667													6	21					0	0	0	0	A	2950497	G	A	2950497	3	1	467	1	0	0	0	0	1	0	0	0	11921	1174	41	2	364	2	PHLDA2	11	2950497	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	611368	2950497	132056019	147	90553											
OR10A5	144124	broad.mit.edu	37	chr11	6867255	6867255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggggtagctgaatgcttCctcctggctaccatggcata	7	13	11	10	0	0	1	0	1	0	0	2	1	2	1	3	4	3	5	3	4	4	5	rs150623430	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:6867255C>T	ENST00000299454.4	+	1	373	c.342C>T	c.(340-342)ttC>ttT	p.F114F	OR10A5_ENST00000379831.2_Silent_p.F118F			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGAATGCTTCCTCCTGGCTA	0.532													18	124					0	0	0	0	T	6867255	C	T	6867255	2	4	467	1	0	0	0	0	0	0	0	1	10964	854	30	2		2	OR10A5	11	6867255	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3916758	6867255	128139261	148	90554											
LDHAL6A	160287	broad.mit.edu	37	chr11	18487234	18487234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattatcacagcaggtgcaCgccagaaaaaaggagaaaca	18	5	10	8	1	1	3	1	1	0	2	1	4	1	3	1	2	3	2	1	2	5	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:18487234C>T	ENST00000280706.2	+	3	1092	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R99C	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	99					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	AGCAGGTGCACGCCAGAAAAA	0.388													16	99					0	0	0	0	T	18487234	C	T	18487234	3	4	467	1	0	0	0	0	1	0	0	0	8752	536	19	1	305	1	LDHAL6A	11	18487234	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	11619979	18487234	116519282	149	90555											
IMMP1L	196294	broad.mit.edu	37	chr11	31484801	31484801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaacaagtcgaaaggttTtccccagaacaccacgaagc	15	5	8	13	2	0	1	0	0	0	1	2	3	1	1	4	1	4	1	4	1	5	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:31484801T>C	ENST00000278200.1	-	3	218	c.23A>G	c.(22-24)aAa>aGa	p.K8R	IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000526776.1_Missense_Mutation_p.K8R|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000532287.1_Missense_Mutation_p.K8R	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	8					proteolysis	mitochondrial inner membrane	serine-type peptidase activity			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					TCGAAAGGTTTTCCCCAGAAC	0.368													20	56					0	0	0	0	C	31484801	T	C	31484801	3	2	467	1	0	0	0	0	1	0	0	0	7769	1841	64	5	497	5	IMMP1L	11	31484801	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	12997567	31484801	103521715	150	90556											
MADD	8567	broad.mit.edu	37	chr11	47330188	47330188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cataaaggagaagctggcagGcagccccattcgtacttctg	11	8	11	11	1	1	1	0	0	1	1	2	2	1	1	2	3	3	4	2	3	4	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:47330188G>C	ENST00000342922.4	+	23	4049	c.3692G>C	c.(3691-3693)gGc>gCc	p.G1231A	MADD_ENST00000407859.3_Missense_Mutation_p.G1208A|MADD_ENST00000406482.1_Missense_Mutation_p.G1188A|MADD_ENST00000402799.1_Missense_Mutation_p.G1188A|MADD_ENST00000402192.2_Missense_Mutation_p.G1230A|MADD_ENST00000395336.3_Missense_Mutation_p.G1269A|MADD_ENST00000395344.3_Missense_Mutation_p.G1184A|MADD_ENST00000349238.3_Missense_Mutation_p.G1251A|MADD_ENST00000311027.5_Missense_Mutation_p.G1269A|MADD_ENST00000405573.2_Missense_Mutation_p.G79A	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1269	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			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)		AAGCTGGCAGGCAGCCCCATT	0.507													9	63					0	0	0	0	C	47330188	G	C	47330188	3	2	467	1	0	0	0	0	1	0	0	0	9217	1203	42	4	3900	4	MADD	11	47330188	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	15845387	47330188	87676328	151	90557											
MYBPC3	4607	broad.mit.edu	37	chr11	47372995	47372995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccgctctgtctcggcctcGaacacggcagggctgcctgc	4	7	13	17	4	2	0	0	0	2	0	4	1	2	0	3	3	3	3	3	3	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:47372995G>A	ENST00000545968.1	-	2	141	c.87C>T	c.(85-87)ttC>ttT	p.F29F	MYBPC3_ENST00000256993.4_Silent_p.F29F|MYBPC3_ENST00000399249.2_Silent_p.F29F	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	29					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCGGCCTCGAACACGGCAG	0.652													4	18					0	0	0	0	A	47372995	G	A	47372995	2	1	467	1	0	0	0	0	0	0	0	1	10083	1049	37	1		1	MYBPC3	11	47372995	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	42807	47372995	87633521	152	90558											
LRRC55	219527	broad.mit.edu	37	chr11	56954774	56954774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgagggcgccccgctcttCtcactcactgaggagagctt	6	9	12	14	3	3	2	2	1	2	1	5	4	3	2	2	2	1	2	2	2	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:56954774C>G	ENST00000497933.1	+	2	993	c.846C>G	c.(844-846)ttC>ttG	p.F282L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	252						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCCCGCTCTTCTCACTCACTG	0.587													19	174					0	0	0	0	G	56954774	C	G	56954774	3	3	467	1	0	0	0	0	1	0	0	0	9075	912	32	2	852	2	LRRC55	11	56954774	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	9581779	56954774	78051742	153	90559											
SMTNL1	219537	broad.mit.edu	37	chr11	57309018	57309018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagtcagattgctcagcaGaggccagggagagtacggct	11	6	16	8	1	2	4	2	0	0	4	2	6	2	4	1	3	3	4	1	3	1	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:57309018G>A	ENST00000457912.1	+	1	40	c.40G>A	c.(40-42)Gag>Aag	p.E14K				E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	120										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TTGCTCAGCAGAGGCCAGGGA	0.512													19	148					0	0	0	0	A	57309018	G	A	57309018	3	1	467	1	0	0	0	0	1	0	0	0	14903	943	33	2	42	2	SMTNL1	11	57309018	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	354244	57309018	77697498	154	90560											
OR10V1	390201	broad.mit.edu	37	chr11	59481275	59481275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcaggtgagaatggaCgaaagaaaaactgcatcttt	15	8	12	6	1	2	2	1	1	1	2	2	5	2	3	0	3	2	1	0	3	4	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:59481275C>T	ENST00000307552.2	-	1	62	c.44G>A	c.(43-45)cGt>cAt	p.R15H	STX3_ENST00000300150.7_Intron	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGAGAATGGACGAAAGAAAAA	0.438													35	30					0	0	0	0	T	59481275	C	T	59481275	3	4	467	1	0	0	0	0	1	0	0	0	10991	536	19	1	889	1	OR10V1	11	59481275	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2172257	59481275	75525241	155	90561											
FADS2	9415	broad.mit.edu	37	chr11	61583770	61583770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagatggaatgcacggcaggGaggcgggaccctttgtttgt	8	9	16	8	2	0	1	0	0	0	1	0	4	0	4	1	5	1	3	1	5	1	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:61583770G>A	ENST00000257261.6	+	1	43	c.13G>A	c.(13-15)Gag>Aag	p.E5K	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000350997.7_Intron|FADS1_ENST00000541683.1_Intron			O95864	FADS2_HUMAN	fatty acid desaturase 2	0					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GCACGGCAGGGAGGCGGGACC	0.632													4	67					0	0	0	0	A	61583770	G	A	61583770	3	1	467	1	0	0	0	0	1	0	0	0	5407	1189	41	2		2	FADS2	11	61583770	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2102495	61583770	73422746	156	90562											
GANAB	23193	broad.mit.edu	37	chr11	62400972	62400972	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcgccctcagctgggTcttttgatccttgcctggaa	5	12	9	15	1	2	1	1	1	1	0	4	2	3	2	5	2	2	1	5	2	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:62400972T>C	ENST00000346178.4	-	7	656	c.641A>G	c.(640-642)gAc>gGc	p.D214G	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.D95G|GANAB_ENST00000534779.1_Missense_Mutation_p.D100G|GANAB_ENST00000356638.3_Missense_Mutation_p.D192G	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	192					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CTCAGCTGGGTCTTTTGATCC	0.622													5	86					0	0	0	0	C	62400972	T	C	62400972	3	2	467	1	0	0	0	0	1	0	0	0	6282	1667	58	5	2335	5	GANAB	11	62400972	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	817202	62400972	72605544	157	90563											
ARAP1	116985	broad.mit.edu	37	chr11	72410572	72410572	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcaggaccccgtcaccAaggacacaccagcgccggct	10	4	10	17	3	2	0	2	0	0	0	2	2	2	2	5	3	2	2	5	3	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:72410572A>G	ENST00000359373.5	-	17	3179	c.2328T>C	c.(2326-2328)ctT>ctC	p.L776L	ARAP1_ENST00000455638.2_Silent_p.L776L|ARAP1_ENST00000334211.8_Silent_p.L531L|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Silent_p.L470L|ARAP1_ENST00000426523.1_Silent_p.L531L|ARAP1_ENST00000393605.3_Silent_p.L536L|ARAP1_ENST00000393609.3_Silent_p.L776L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	776	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCGTCACCAAGGACACACC	0.632													9	28					0	0	0	0	G	72410572	A	G	72410572	2	3	467	1	0	0	0	0	0	0	0	1	840	117	5	5		5	ARAP1	11	72410572	Silent	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	10009600	72410572	62595944	158	90564											
FAT3	120114	broad.mit.edu	37	chr11	92543192	92543192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtctatgagaacaCagccaccaaggctctgttga	11	9	9	12	0	2	2	0	2	2	1	2	3	2	2	3	1	2	2	3	1	3	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:92543192C>G	ENST00000298047.6	+	12	9448	c.9431C>G	c.(9430-9432)aCa>aGa	p.T3144R	FAT3_ENST00000409404.2_Missense_Mutation_p.T3144R|FAT3_ENST00000525166.1_Missense_Mutation_p.T2994R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3144	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATGAGAACACAGCCACCAAG	0.507										TCGA Ovarian(4;0.039)			51	29					0	0	0	0	G	92543192	C	G	92543192	3	3	467	1	0	0	0	0	1	0	0	0	5736	478	17	4	9477	4	FAT3	11	92543192	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	20132620	92543192	42463324	159	90565											
CCDC67	159989	broad.mit.edu	37	chr11	93065448	93065448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaccaagcccataataCgatggggtaagtgctgagaa	15	6	13	7	1	0	2	0	1	0	2	0	5	0	2	2	3	4	2	2	3	6	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:93065448C>T	ENST00000298050.3	+	2	123	c.23C>T	c.(22-24)aCg>aTg	p.T8M	CCDC67_ENST00000527307.1_Missense_Mutation_p.T8M|CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000530273.1_Missense_Mutation_p.T8M	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	8										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GCCCATAATACGATGGGGTAA	0.323													4	17					0	0	0	0	T	93065448	C	T	93065448	3	4	467	1	0	0	0	0	1	0	0	0	2866	536	19	1	25	1	CCDC67	11	93065448	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	522256	93065448	41941068	160	90566											
PGR	5241	broad.mit.edu	37	chr11	100909997	100909997	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtacagatgaagttgtttGacaagctgttggtttaacaa	13	13	10	5	0	0	3	0	2	0	1	0	3	0	3	0	1	3	6	0	1	5	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:100909997G>A	ENST00000325455.5	-	8	4105	c.2652C>T	c.(2650-2652)gtC>gtT	p.V884V	PGR_ENST00000263463.5_Silent_p.V782V|PGR_ENST00000534013.1_Silent_p.V290V	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	884	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GAAGTTGTTTGACAAGCTGTT	0.308													4	73					0	0	0	0	A	100909997	G	A	100909997	2	1	467	1	0	0	0	0	0	0	0	1	11877	1277	45	2		2	PGR	11	100909997	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	7844549	100909997	34096519	161	90567											
TRPC6	7225	broad.mit.edu	37	chr11	101362340	101362340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctgagatttgggcgacCgtgatcaccactctggagcg	8	8	14	11	4	2	2	1	2	1	1	2	5	2	3	2	3	1	1	2	3	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:101362340C>T	ENST00000344327.3	-	3	1499	c.1075G>A	c.(1075-1077)Ggt>Agt	p.G359S	TRPC6_ENST00000360497.4_Missense_Mutation_p.G359S|TRPC6_ENST00000532133.1_Missense_Mutation_p.G359S|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	359					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTGGGCGACCGTGATCACCA	0.433													32	274					0	0	0	0	T	101362340	C	T	101362340	3	4	467	1	0	0	0	0	1	0	0	0	16678	652	23	1	1764	1	TRPC6	11	101362340	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	452343	101362340	33644176	162	90568											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450115	110450115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaatgtctttggttaaataCctgtcctcaatgtcgcagac	11	14	7	9	1	2	1	1	0	1	1	4	1	3	1	2	1	1	2	2	1	6	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:110450115C>G	ENST00000260283.4	-	16	3839	c.3555G>C	c.(3553-3555)agG>agC	p.R1185S	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.R1162S|ARHGAP20_ENST00000529591.1_Splice_Site|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.R1149S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.R1159S|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.R1149S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.R1159S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1185					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGGTTAAATACCTGTCCTCAA	0.443													5	116					0	0	0	0	G	110450115	C	G	110450115	3	3	467	1	0	0	0	0	1	0	0	0	872	506	18	4	24	4	ARHGAP20	11	110450115	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	9087775	110450115	24556401	163	90569											
USP28	57646	broad.mit.edu	37	chr11	113711342	113711342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaataacagcactaaaccaaCatgtattgccaacatttttc	16	11	4	10	0	0	0	0	0	0	0	1	1	0	0	2	0	6	2	2	0	7	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:113711342C>T	ENST00000003302.4	-	5	580	c.512G>A	c.(511-513)tGt>tAt	p.C171Y	USP28_ENST00000260188.5_Missense_Mutation_p.C171Y|USP28_ENST00000537706.1_Missense_Mutation_p.C171Y|USP28_ENST00000545540.1_Missense_Mutation_p.C46Y|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	171					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACTAAACCAACATGTATTGCC	0.373													11	47					0	0	0	0	T	113711342	C	T	113711342	3	4	467	1	0	0	0	0	1	0	0	0	17154	478	17	4	2805	4	USP28	11	113711342	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3261227	113711342	21295174	164	90570											
ARHGEF12	23365	broad.mit.edu	37	chr11	120322294	120322294	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctcatctgtgagtcctgaAcctcaggactctgccaagtt	8	11	8	14	0	4	2	2	2	2	0	5	3	5	3	4	1	2	1	4	1	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:120322294A>G	ENST00000397843.2	+	22	2083	c.1917A>G	c.(1915-1917)gaA>gaG	p.E639E	ARHGEF12_ENST00000532993.1_Silent_p.E536E|ARHGEF12_ENST00000356641.3_Silent_p.E620E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	639					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGAGTCCTGAACCTCAGGACT	0.507			T	MLL	AML								7	46					0	0	0	0	G	120322294	A	G	120322294	2	3	467	1	0	0	0	0	0	0	0	1	899	40	2	5		5	ARHGEF12	11	120322294	Silent	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	6610952	120322294	14684222	165	90571											
ZBTB44	29068	broad.mit.edu	37	chr11	130131646	130131646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaccttatgtgcccggaaGattttgtcctggacacgaat	10	11	9	11	2	0	1	0	0	0	1	1	4	1	3	4	2	1	0	4	2	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:130131646G>C	ENST00000525842.1	-	2	490	c.123C>G	c.(121-123)atC>atG	p.I41M	ZBTB44_ENST00000357899.4_Missense_Mutation_p.I41M|ZBTB44_ENST00000397753.1_Missense_Mutation_p.I41M|ZBTB44_ENST00000530205.1_Missense_Mutation_p.I41M	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	41	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GTGCCCGGAAGATTTTGTCCT	0.453													4	182					0	0	0	0	C	130131646	G	C	130131646	3	2	467	1	0	0	0	0	1	0	0	0	17640	932	33	2	1258	2	ZBTB44	11	130131646	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	9809352	130131646	4874870	166	90572											
ACAD8	27034	broad.mit.edu	37	chr11	134129581	134129581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggccccaagggcatctCatgcatagttgttgagaagg	11	8	12	10	0	1	1	1	1	1	1	2	2	1	1	3	3	1	4	3	3	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:134129581C>T	ENST00000281182.4	+	6	753	c.647C>T	c.(646-648)tCa>tTa	p.S216L	ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000543332.1_Missense_Mutation_p.S118L|ACAD8_ENST00000374752.4_Missense_Mutation_p.S89L|ACAD8_ENST00000537423.1_Missense_Mutation_p.S139L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	216					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		AAGGGCATCTCATGCATAGTT	0.532													21	106					0	0	0	0	T	134129581	C	T	134129581	3	4	467	1	0	0	0	0	1	0	0	0	110	838	29	2	669	2	ACAD8	11	134129581	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3997935	134129581	876935	167	90573											
VWF	7450	broad.mit.edu	37	chr12	6103696	6103696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattgaatctgacctcatgCatgatggcaccataaacgtt	12	12	8	9	1	2	4	1	4	1	0	2	4	2	4	2	1	2	3	2	1	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:6103696C>T	ENST00000261405.5	-	36	6395	c.6141G>A	c.(6139-6141)atG>atA	p.M2047I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2047	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGACCTCATGCATGATGGCAC	0.468													13	84					0	0	0	0	T	6103696	C	T	6103696	3	4	467	1	0	0	0	0	1	0	0	0	17342	710	25	4	2368	4	VWF	12	6103696	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08		6103696	127748199	168	90574											
CLEC12B	387837	broad.mit.edu	37	chr12	10167981	10167981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaagaactccaccctagtGaagatagacagtttggaaga	16	7	10	8	0	0	5	0	1	0	4	1	7	1	6	2	1	1	1	2	1	6	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:10167981G>A	ENST00000396502.1	+	4	668	c.540G>A	c.(538-540)gtG>gtA	p.V180V	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Silent_p.V180V	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	180	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						CCACCCTAGTGAAGATAGACA	0.363													9	77					0	0	0	0	A	10167981	G	A	10167981	2	1	467	1	0	0	0	0	0	0	0	1	3528	1277	45	2		2	CLEC12B	12	10167981	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	4064285	10167981	123683914	169	90575											
LRRK2	120892	broad.mit.edu	37	chr12	40758833	40758833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgtaattcggtcagagtCatgatgacagcacagctagg	11	12	11	7	1	2	3	2	2	0	1	3	3	2	3	0	2	2	3	0	2	2	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:40758833C>T	ENST00000298910.7	+	49	7429	c.7371C>T	c.(7369-7371)gtC>gtT	p.V2457V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2457					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CGGTCAGAGTCATGATGACAG	0.348													18	78					0	0	0	0	T	40758833	C	T	40758833	2	4	467	1	0	0	0	0	0	0	0	1	9097	813	29	2		2	LRRK2	12	40758833	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	30590852	40758833	93093062	170	90576											
COL2A1	1280	broad.mit.edu	37	chr12	48387816	48387816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggaaggcctggggttcctggGaaaccacgagcaccctgcaa	10	5	14	12	1	0	0	0	0	0	0	1	3	1	2	4	5	3	3	4	5	3	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:48387816G>C	ENST00000380518.3	-	13	995	c.831C>G	c.(829-831)ttC>ttG	p.F277L	COL2A1_ENST00000337299.6_Missense_Mutation_p.F208L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	277	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGTTCCTGGGAAACCACGAG	0.542													46	224					0	0	0	0	C	48387816	G	C	48387816	3	2	467	1	0	0	0	0	1	0	0	0	3717	1165	41	2	3800	2	COL2A1	12	48387816	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	7628983	48387816	85464079	171	90577											
SMUG1	23583	broad.mit.edu	37	chr12	54576029	54576029	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgccagagcccgtcGtgcccgctgctctgccagtc	4	7	12	18	3	1	1	0	0	1	1	3	1	1	1	5	1	5	2	5	1	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:54576029G>A	ENST00000508394.2	-	3	726	c.664C>T	c.(664-666)Cga>Tga	p.R222*	SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000401977.2_Nonsense_Mutation_p.R222*|SMUG1_ENST00000337581.3_Nonsense_Mutation_p.R222*|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	222					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						AGAGCCCGTCGTGCCCGCTGC	0.672								Base excision repair (BER), DNA glycosylases					24	38					0	0	0	0	A	54576029	G	A	54576029	4	1	467	1	0	0	0	0	0	1	0	0	14906	1153	40	1	152	1	SMUG1	12	54576029	Nonsense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	6188213	54576029	79275866	172	90578											
TIMELESS	8914	broad.mit.edu	37	chr12	56822387	56822387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctggagatatgtccatctCattcactgttgccagcagct	9	13	8	11	0	3	1	2	0	2	1	5	2	4	1	2	1	3	3	2	1	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:56822387C>T	ENST00000229201.4	-	12	1505	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	TIMELESS_ENST00000553532.1_Missense_Mutation_p.E452K|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	452					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATGTCCATCTCATTCACTGTT	0.572													6	42					0	0	0	0	T	56822387	C	T	56822387	3	4	467	1	0	0	0	0	1	0	0	0	15998	835	29	2	2344	2	TIMELESS	12	56822387	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2246358	56822387	77029508	173	90579											
MYO1A	4640	broad.mit.edu	37	chr12	57432763	57432763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggccgcaggcactcctCatccaacatggccaggatac	10	5	9	17	1	1	0	1	0	0	0	3	1	3	1	5	4	2	2	5	4	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:57432763C>T	ENST00000442789.2	-	17	1650	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	MYO1A_ENST00000300119.3_Missense_Mutation_p.E455K|MYO1A_ENST00000544473.1_Missense_Mutation_p.E293K|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	455	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGGCACTCCTCATCCAACATG	0.557													9	30					0	0	0	0	T	57432763	C	T	57432763	3	4	467	1	0	0	0	0	1	0	0	0	10138	835	29	2	1820	2	MYO1A	12	57432763	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	610376	57432763	76419132	174	90580											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038709	72038709	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtacttgttttaactttTtgctgtacagttttcgtctt	5	24	6	6	1	1	0	0	0	1	0	2	0	1	0	0	0	4	5	0	0	3	11			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:72038709T>G	ENST00000378743.3	-	4	1585	c.1227A>C	c.(1225-1227)caA>caC	p.Q409H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	409					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTAACTTTTTGCTGTACAG	0.323													44	70					0	0	0	0	G	72038709	T	G	72038709	3	3	467	1	0	0	0	0	1	0	0	0	17728	1838	64	5	4870	5	ZFC3H1	12	72038709	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	14605946	72038709	61813186	175	90581											
TPH2	121278	broad.mit.edu	37	chr12	72425055	72425055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgccctttctgacaaGgcatgtgtgaaagcctttga	10	10	10	11	1	1	3	0	3	1	0	1	3	1	3	2	1	2	2	2	1	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:72425055G>A	ENST00000333850.3	+	10	1323	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	394					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTTCTGACAAGGCATGTGTGA	0.413													16	133					0	0	0	0	A	72425055	G	A	72425055	2	1	467	1	0	0	0	0	0	0	0	1	16497	991	35	4		4	TPH2	12	72425055	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	386346	72425055	61426840	176	90582											
NUAK1	9891	broad.mit.edu	37	chr12	106461045	106461045	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttaccctggctgggtcCggggggctgggggaggggat	4	7	23	7	1	0	0	0	0	0	0	1	3	1	2	2	10	1	3	2	10	1	1	rs138538652	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:106461045C>T	ENST00000261402.2	-	7	2900	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	507							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P507P(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGCTGGGTCCGGGGGGCTGG	0.602													14	53					0	0	0	0	T	106461045	C	T	106461045	2	4	467	1	0	0	0	0	0	0	0	1	10783	639	23	1		1	NUAK1	12	106461045	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	34035990	106461045	27390850	177	90583											
PXN	5829	broad.mit.edu	37	chr12	120653789	120653789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtttctggtctcccttctgGagtggcttctttcctcgatg	2	17	11	11	1	4	0	0	0	4	0	7	2	5	1	2	4	0	2	2	4	0	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:120653789G>A	ENST00000397506.3	-	3	1120	c.67C>T	c.(67-69)Cca>Tca	p.P23S	PXN_ENST00000424649.2_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000228307.7_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000536957.1_Intron			P49023	PAXI_HUMAN	paxillin	100					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCCTTCTGGAGTGGCTTCT	0.632													3	17					0	0	0	0	A	120653789	G	A	120653789	3	1	467	1	0	0	0	0	1	0	0	0	12934	1189	41	2		2	PXN	12	120653789	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	14192744	120653789	13198106	178	90584											
ANKLE2	23141	broad.mit.edu	37	chr12	133303901	133303901	+	Frame_Shift_Del	DEL	G	G	-																															gcacggggctgtagcgcccaGgactgcccaggcctggcttt																										TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:133303901delG	ENST00000539605.1	-	12	9242	c.2558delC	c.(2557-2559)ctfs	p.P853fs	ANKLE2_ENST00000357997.5_Frame_Shift_Del_p.P915fs|ANKLE2_ENST00000542657.1_Frame_Shift_Del_p.P270fs|ANKLE2_ENST00000542282.1_Frame_Shift_Del_p.P270fs|ANKLE2_ENST00000542374.1_5'UTR			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	915						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTAGCGCCCAGGACTGCCCAG	0.657													2	4	---	---	---	---					-	133303901	G	-	133303901	7	5	467	1	0	1	0	1	0	0	0	0	633	1000	35	0	76	0	ANKLE2	12	133303901	Frame_Shift_Del	DEL	G	TCGA-P3-A6T5-01A-11D-A34J-08	12650112	133303901	547994	179	90585											
XPO4	64328	broad.mit.edu	37	chr13	21357969	21357969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggagtgctgcttgcagtGagcttgttgaaggcatctgc	7	11	16	7	0	1	2	0	2	1	0	1	4	1	4	0	3	5	6	0	3	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:21357969G>A	ENST00000400602.2	-	23	3383	c.3348C>T	c.(3346-3348)ctC>ctT	p.L1116L	XPO4_ENST00000255305.6_Silent_p.L1116L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	1116					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGCTTGCAGTGAGCTTGTTGA	0.433													22	202					0	0	0	0	A	21357969	G	A	21357969	2	1	467	1	0	0	0	0	0	0	0	1	17542	1277	45	2		2	XPO4	13	21357969	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		21357969	93811909	180	90586											
SACS	26278	broad.mit.edu	37	chr13	23911462	23911462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagactcaataagatactacTtcttaggcatgcagcaacat	16	10	6	9	0	2	2	1	0	1	2	2	2	2	2	0	1	5	3	0	1	7	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:23911462T>C	ENST00000382298.3	-	10	7141	c.6553A>G	c.(6553-6555)Agt>Ggt	p.S2185G	SACS_ENST00000382292.3_Missense_Mutation_p.S2185G|SACS_ENST00000402364.1_Missense_Mutation_p.S1435G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2185					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATACTACTTCTTAGGCAT	0.358													12	108					0	0	0	0	C	23911462	T	C	23911462	3	2	467	1	0	0	0	0	1	0	0	0	13889	1609	56	5	7190	5	SACS	13	23911462	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	2553493	23911462	91258416	181	90587											
STOML3	161003	broad.mit.edu	37	chr13	39541122	39541122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagctatgggagactcaGccagcaccatggaggctgac	11	5	15	10	0	1	3	1	1	0	2	1	6	1	4	2	4	3	3	2	4	1	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:39541122G>A	ENST00000379631.4	-	7	1060	c.716C>T	c.(715-717)gCt>gTt	p.A239V	STOML3_ENST00000423210.1_Missense_Mutation_p.A230V	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	239						integral to membrane|plasma membrane				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)		GGGAGACTCAGCCAGCACCAT	0.468													4	66					0	0	0	0	A	39541122	G	A	39541122	3	1	467	1	0	0	0	0	1	0	0	0	15405	971	34	4	163	4	STOML3	13	39541122	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	15629660	39541122	75628756	182	90588											
LCP1	3936	broad.mit.edu	37	chr13	46701814	46701814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaccaggtcttctggcaggGcatacactcttgctccaatt	9	11	8	13	0	3	0	0	0	3	0	4	0	4	0	2	3	3	3	2	3	3	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:46701814G>A	ENST00000398576.2	-	19	2184	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	599	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTCTGGCAGGGCATACACTCT	0.488			T	BCL6	NHL								5	227					0	0	0	0	A	46701814	G	A	46701814	3	1	467	1	0	0	0	0	1	0	0	0	8744	1203	42	4	91	4	LCP1	13	46701814	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	7160692	46701814	68468064	183	90589											
LCP1	3936	broad.mit.edu	37	chr13	46717512	46717512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgatcttttcatagagctgGaagatgaccagggcatctga	11	12	11	7	0	3	5	1	3	2	2	3	6	3	6	1	2	1	2	1	2	2	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:46717512G>T	ENST00000398576.2	-	15	1669	c.1281C>A	c.(1279-1281)ttC>ttA	p.F427L	LCP1_ENST00000323076.2_Missense_Mutation_p.F427L			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	427	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CATAGAGCTGGAAGATGACCA	0.418			T	BCL6	NHL								7	93					8.12818e-05	8.39588e-05	1	0	T	46717512	G	T	46717512	3	4	467	1	0	0	0	0	1	0	0	0	8744	1165	41	2	622	2	LCP1	13	46717512	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	15698	46717512	68452366	184	90590											
SPRY2	10253	broad.mit.edu	37	chr13	80911079	80911079	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacatgacacccatggcTgaccatcgtgtacaacagtg	12	7	11	11	1	0	2	0	2	0	0	1	3	0	3	2	2	2	2	2	2	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:80911079T>C	ENST00000377102.1	-	2	1739	c.762A>G	c.(760-762)tcA>tcG	p.S254S	SPRY2_ENST00000377104.3_Silent_p.S254S|SPRY2_ENST00000540649.1_Silent_p.S254S			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	254	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CACCCATGGCTGACCATCGTG	0.473													10	68					0	0	0	0	C	80911079	T	C	80911079	2	2	467	1	0	0	0	0	0	0	0	1	15196	1567	55	5		5	SPRY2	13	80911079	Silent	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	34193567	80911079	34258799	185	90591											
LIG4	3981	broad.mit.edu	37	chr13	108863391	108863391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataggccattctctctctttCtagctgaggaagaattagtc	10	14	8	9	0	3	2	0	1	3	1	6	3	3	3	1	2	1	1	1	2	5	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:108863391C>T	ENST00000356922.4	-	2	498	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	LIG4_ENST00000442234.1_Missense_Mutation_p.E76K|LIG4_ENST00000405925.1_Missense_Mutation_p.E76K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	76					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTCTCTCTTTCTAGCTGAGGA	0.353								Non-homologous end-joining					18	151					0	0	0	0	T	108863391	C	T	108863391	3	4	467	1	0	0	0	0	1	0	0	0	8837	922	32	2	2513	2	LIG4	13	108863391	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	27952312	108863391	6306487	186	90592											
CDC16	8881	broad.mit.edu	37	chr13	115028376	115028376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtatgctgaggccttggatTaccaccgtcaggcactggtg	8	10	13	10	1	1	1	1	1	0	0	1	2	1	2	3	4	2	3	3	4	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:115028376T>C	ENST00000360383.3	+	16	1597	c.1399T>C	c.(1399-1401)Tac>Cac	p.Y467H	CDC16_ENST00000375310.1_Missense_Mutation_p.Y373H|CDC16_ENST00000375312.3_Missense_Mutation_p.Y322H|CDC16_ENST00000356221.3_Missense_Mutation_p.Y467H|CDC16_ENST00000252458.6_Missense_Mutation_p.Y322H|CDC16_ENST00000375308.1_Missense_Mutation_p.Y373H|CDC16_ENST00000252457.5_Missense_Mutation_p.Y466H	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	467					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GGCCTTGGATTACCACCGTCA	0.438													15	151					0	0	0	0	C	115028376	T	C	115028376	3	2	467	1	0	0	0	0	1	0	0	0	3087	1754	61	5	1461	5	CDC16	13	115028376	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	6164985	115028376	141502	187	90593											
OR10G3	26533	broad.mit.edu	37	chr14	22038630	22038630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaaagtgaagttcatcatGaggcgagggacaatgatgga	14	8	13	6	1	2	3	2	3	0	0	2	6	2	5	1	3	0	1	1	3	4	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:22038630G>A	ENST00000303532.1	-	1	245	c.246C>T	c.(244-246)ctC>ctT	p.L82L		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGTTCATCATGAGGCGAGGGA	0.502													6	41					0	0	0	0	A	22038630	G	A	22038630	2	1	467	1	0	0	0	0	0	0	0	1	10971	1277	45	2		2	OR10G3	14	22038630	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		22038630	85310910	188	90594											
ACIN1	22985	broad.mit.edu	37	chr14	23548064	23548064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctgggtcacatgcttttCagctgattcaggctgactca	7	13	9	12	0	5	2	4	2	1	0	5	2	5	2	1	2	2	3	1	2	0	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:23548064C>T	ENST00000262710.1	-	7	2473	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K	ACIN1_ENST00000457657.1_Missense_Mutation_p.E676K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E658K|ACIN1_ENST00000555053.1_Missense_Mutation_p.E716K|ACIN1_ENST00000555352.1_5'UTR	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	716					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACATGCTTTTCAGCTGATTCA	0.532													6	48					0	0	0	0	T	23548064	C	T	23548064	3	4	467	1	0	0	0	0	1	0	0	0	142	835	29	2	2078	2	ACIN1	14	23548064	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1509434	23548064	83801476	189	90595											
MYH6	4624	broad.mit.edu	37	chr14	23868231	23868231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcctcctccaggatggAcatgatgcccatgggctgag	8	8	12	13	0	0	2	0	2	0	0	3	4	3	4	4	3	1	2	4	3	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:23868231A>G	ENST00000405093.3	-	15	1667	c.1597T>C	c.(1597-1599)Tcc>Ccc	p.S533P	MYH6_ENST00000356287.3_Missense_Mutation_p.S533P	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	533	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCAGGATGGACATGATGCCC	0.542													11	83					0	0	0	0	G	23868231	A	G	23868231	3	3	467	1	0	0	0	0	1	0	0	0	10108	275	10	5	4322	5	MYH6	14	23868231	Missense_Mutation	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	320167	23868231	83481309	190	90596											
GMPR2	51292	broad.mit.edu	37	chr14	24707474	24707474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagctgacttcgtgatGctgggtggcatgctggctgg	5	10	18	8	1	0	2	0	2	0	0	1	3	0	3	0	5	3	6	0	5	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:24707474G>A	ENST00000557854.1	+	8	1051	c.774G>A	c.(772-774)atG>atA	p.M258I	GMPR2_ENST00000559910.1_Missense_Mutation_p.M207I|GMPR2_ENST00000456667.3_Missense_Mutation_p.M212I|GMPR2_ENST00000355299.4_Missense_Mutation_p.M240I|GMPR2_ENST00000559104.1_Missense_Mutation_p.M225I|GMPR2_ENST00000399440.2_Missense_Mutation_p.M240I|GMPR2_ENST00000348719.7_Missense_Mutation_p.M240I|GMPR2_ENST00000420554.2_Missense_Mutation_p.M258I|GMPR2_ENST00000559836.1_Missense_Mutation_p.M240I			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	240					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ACTTCGTGATGCTGGGTGGCA	0.542													10	53					0	0	0	0	A	24707474	G	A	24707474	3	1	467	1	0	0	0	0	1	0	0	0	6548	1319	46	4	804	4	GMPR2	14	24707474	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	839243	24707474	82642066	191	90597											
AKAP6	9472	broad.mit.edu	37	chr14	33292114	33292114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcagtgacgagctctctCtttgctcagaggatattgtg	8	12	12	9	1	3	2	1	1	2	1	4	4	3	3	0	1	3	4	0	1	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:33292114C>G	ENST00000280979.4	+	13	5265	c.5095C>G	c.(5095-5097)Ctt>Gtt	p.L1699V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1699	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGAGCTCTCTCTTTGCTCAGA	0.463													17	121					0	0	0	0	G	33292114	C	G	33292114	3	3	467	1	0	0	0	0	1	0	0	0	455	913	32	2	5141	2	AKAP6	14	33292114	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	8584640	33292114	74057426	192	90598											
SEC23A	10484	broad.mit.edu	37	chr14	39530996	39530996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatggtggtcactcggatgCgtctctgcccacttgaatgc	7	11	11	12	2	2	1	1	1	1	0	4	2	2	2	1	3	3	0	1	3	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:39530996C>T	ENST00000537403.1	-	9	2074	c.872G>A	c.(871-873)cGc>cAc	p.R291H	SEC23A_ENST00000545328.2_Missense_Mutation_p.R464H|SEC23A_ENST00000536508.1_Missense_Mutation_p.R367H|SEC23A_ENST00000307712.6_Missense_Mutation_p.R493H			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	493					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CACTCGGATGCGTCTCTGCCC	0.418													16	84					0	0	0	0	T	39530996	C	T	39530996	3	4	467	1	0	0	0	0	1	0	0	0	14078	768	27	1	851	1	SEC23A	14	39530996	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	6238882	39530996	67818544	193	90599											
FBXO33	254170	broad.mit.edu	37	chr14	39871066	39871066	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaaacagttgctgaattCtataaggaaaacacatgcca	16	10	6	9	0	2	1	1	1	1	0	2	2	2	2	1	1	4	2	1	1	6	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:39871066C>T	ENST00000298097.7	-	3	1048		c.e3-1		FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTGCTGAATTCTATAAGGAAA	0.368													17	78					0	0	0	0	T	39871066	C	T	39871066	5	4	467	1	0	0	0	0	0	0	1	0	5788	927	32	2	965	2	FBXO33	14	39871066	Splice_Site	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	340070	39871066	67478474	194	90600											
PTGDR	5729	broad.mit.edu	37	chr14	52734980	52734980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatcaccctgcgcctgggcGcactggtggccccggtggtg	4	7	15	15	3	1	0	1	0	0	0	1	0	1	0	4	5	1	1	4	5	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:52734980G>A	ENST00000306051.2	+	1	550	c.448G>A	c.(448-450)Gca>Aca	p.A150T	PTGDR_ENST00000553372.1_Missense_Mutation_p.A150T	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	150						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCGCCTGGGCGCACTGGTGGC	0.647													15	107					0	0	0	0	A	52734980	G	A	52734980	3	1	467	1	0	0	0	0	1	0	0	0	12820	1087	38	1	450	1	PTGDR	14	52734980	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	12863914	52734980	54614560	195	90601											
DPF3	8110	broad.mit.edu	37	chr14	73181199	73181199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcctcctgccccctgcaGagccgcgagcctggggagac	5	5	13	18	2	0	2	0	0	0	2	2	4	2	2	7	2	4	1	7	2	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:73181199G>A	ENST00000541685.1	-	6	548	c.536C>T	c.(535-537)tCt>tTt	p.S179F	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.S179F|DPF3_ENST00000546183.1_Missense_Mutation_p.S189F	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	179					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCCCCCTGCAGAGCCGCGAGC	0.597													5	70					0	0	0	0	A	73181199	G	A	73181199	3	1	467	1	0	0	0	0	1	0	0	0	4754	942	33	2	553	2	DPF3	14	73181199	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	20446219	73181199	34168341	196	90602											
PNMA1	9240	broad.mit.edu	37	chr14	74180338	74180338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttccaacagtgtcatcGccattttctcaactatcaag	11	13	5	12	1	4	0	3	0	2	0	7	0	5	0	2	0	2	0	2	0	4	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:74180338G>A	ENST00000316836.3	-	1	790	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	2					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cagtgtcatcgccattttctc	0.522													4	106					0	0	0	0	A	74180338	G	A	74180338	3	1	467	1	0	0	0	0	1	0	0	0	12225	1087	38	1	1060	1	PNMA1	14	74180338	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	999139	74180338	33169202	197	90603											
DYNC1H1	1778	broad.mit.edu	37	chr14	102508995	102508995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaatctgctccgtgcGggccgcatctttgtgttcga	4	13	12	12	4	2	1	0	1	2	0	4	2	3	1	3	1	2	3	3	1	1	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:102508995G>A	ENST00000360184.4	+	69	12587	c.12423G>A	c.(12421-12423)gcG>gcA	p.A4141A	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4141	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCTCCGTGCGGGCCGCATCT	0.587													6	60					0	0	0	0	A	102508995	G	A	102508995	2	1	467	1	0	0	0	0	0	0	0	1	4877	1103	39	1		1	DYNC1H1	14	102508995	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	28328657	102508995	4840545	198	90604											
AKT1	207	broad.mit.edu	37	chr14	105238729	105238729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtacacgtgctgccacacGataccggcaaagaagcgatg	12	6	11	12	5	0	1	0	0	0	1	1	3	0	1	2	1	5	3	2	1	4	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:105238729G>A	ENST00000554581.1	-	11	2713	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	AKT1_ENST00000555528.1_Silent_p.I411I|AKT1_ENST00000554192.1_Silent_p.I98I|AKT1_ENST00000402615.2_Silent_p.I411I|AKT1_ENST00000554848.1_Silent_p.I411I|AKT1_ENST00000544168.1_Silent_p.I349I|AKT1_ENST00000407796.2_Silent_p.I411I|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000349310.3_Silent_p.I411I|AKT1_ENST00000555458.1_Silent_p.I106I			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	411	AGC-kinase C-terminal.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GCTGCCACACGATACCGGCAA	0.617		1	Mis		"breast, colorectal, ovarian, NSCLC"								21	139					0	0	0	0	A	105238729	G	A	105238729	2	1	467	1	0	0	0	0	0	0	0	1	478	1048	37	1		1	AKT1	14	105238729	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2729734	105238729	2110811	199	90605											
AKT1	207	broad.mit.edu	37	chr14	105239675	105239675	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcacagcccgaagtctgtGatcttaatgtgcccgtcctt	7	13	9	12	2	2	1	0	1	2	0	3	2	3	1	3	0	3	1	3	0	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:105239675G>A	ENST00000554581.1	-	9	2350	c.870C>T	c.(868-870)atC>atT	p.I290I	AKT1_ENST00000555528.1_Silent_p.I290I|AKT1_ENST00000554192.1_Silent_p.I10I|AKT1_ENST00000402615.2_Silent_p.I290I|AKT1_ENST00000554848.1_Silent_p.I290I|AKT1_ENST00000544168.1_Silent_p.I228I|AKT1_ENST00000407796.2_Silent_p.I290I|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000349310.3_Silent_p.I290I			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	290	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CGAAGTCTGTGATCTTAATGT	0.642		1	Mis		"breast, colorectal, ovarian, NSCLC"								4	40					0	0	0	0	A	105239675	G	A	105239675	2	1	467	1	0	0	0	0	0	0	0	1	478	1280	45	2		2	AKT1	14	105239675	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	946	105239675	2109865	200	90606											
CYFIP1	23191	broad.mit.edu	37	chr15	22925804	22925804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcggcccaggtgactctgGaggacgcgctgtccaacgtg	6	7	16	12	4	1	1	0	1	1	0	2	3	2	3	2	5	1	1	2	5	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:22925804G>A	ENST00000313077.7	+	2	147	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E8K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	8					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGTGACTCTGGAGGACGCGCT	0.642													7	34					0	0	0	0	A	22925804	G	A	22925804	3	1	467	1	0	0	0	0	1	0	0	0	4169	1175	41	2	24	2	CYFIP1	15	22925804	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		22925804	79605588	201	90607											
TRPM1	4308	broad.mit.edu	37	chr15	31324973	31324973	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacggatgtaccagaagatGatatccacacagtagatcac	16	7	8	10	1	1	4	1	1	0	3	2	5	2	5	2	1	1	2	2	1	4	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:31324973G>A	ENST00000542188.1	-	21	3235	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TRPM1_ENST00000256552.6_Silent_p.I957I|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I935I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	935					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACCAGAAGATGATATCCACAC	0.483													17	93					0	0	0	0	A	31324973	G	A	31324973	2	1	467	1	0	0	0	0	0	0	0	1	16680	1280	45	2		2	TRPM1	15	31324973	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	8399169	31324973	71206419	202	90608											
SEMA6D	80031	broad.mit.edu	37	chr15	48063756	48063756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctagtatgaaccgtggagGatatatgcccacccccactg	10	8	10	13	1	0	1	0	1	0	0	0	3	0	3	5	2	2	1	5	2	5	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:48063756G>A	ENST00000316364.5	+	19	3435	c.2996G>A	c.(2995-2997)gGa>gAa	p.G999E	SEMA6D_ENST00000558014.1_Missense_Mutation_p.G937E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G943E|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G999E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G980E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G956E|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G937E|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G937E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G924E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	999					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AACCGTGGAGGATATATGCCC	0.483													15	113					0	0	0	0	A	48063756	G	A	48063756	3	1	467	1	0	0	0	0	1	0	0	0	14129	1174	41	2	3109	2	SEMA6D	15	48063756	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	16738783	48063756	54467636	203	90609											
AP4E1	23431	broad.mit.edu	37	chr15	51240332	51240332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcatcgtcaatttggtcgGcaaaatagcagagctggctg	10	11	12	8	2	2	1	2	0	0	1	4	1	2	1	0	3	2	4	0	3	4	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:51240332G>A	ENST00000261842.5	+	11	1398	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	431					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTTGGTCGGCAAAATAGCA	0.338													4	72					0	0	0	0	A	51240332	G	A	51240332	3	1	467	1	0	0	0	0	1	0	0	0	753	1203	42	4	1334	4	AP4E1	15	51240332	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	3176576	51240332	51291060	204	90610											
CGNL1	84952	broad.mit.edu	37	chr15	57753888	57753888	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctaggagctcttacAggcaaaacaggatcttcaag	12	10	8	11	0	5	0	1	0	4	0	6	2	5	2	0	3	3	2	0	3	5	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:57753888A>C	ENST00000281282.5	+	8	2279	c.2201A>C	c.(2200-2202)cAg>cCg	p.Q734P		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	734						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGCTCTTACAGGCAAAACAG	0.517													26	114					0	0	0	0	C	57753888	A	C	57753888	3	2	467	1	0	0	0	0	1	0	0	0	3333	188	7	5	2227	5	CGNL1	15	57753888	Missense_Mutation	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08	6513556	57753888	44777504	205	90611											
ADAM10	102	broad.mit.edu	37	chr15	58925411	58925411	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactggggatccaaagttaTgtccaacttcgtgagcaaaa	13	11	9	8	1	0	1	0	1	0	0	3	2	2	2	2	2	3	2	2	2	6	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:58925411T>A	ENST00000260408.3	-	9	1603	c.1160A>T	c.(1159-1161)cAt>cTt	p.H387L	ADAM10_ENST00000396140.2_Missense_Mutation_p.H86L|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	387	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCCAAAGTTATGTCCAACTTC	0.323													30	21					0	0	0	0	A	58925411	T	A	58925411	3	1	467	1	0	0	0	0	1	0	0	0	234	1464	51	5	1118	5	ADAM10	15	58925411	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	1171523	58925411	43605981	206	90612											
TBC1D2B	23102	broad.mit.edu	37	chr15	78294029	78294029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatcgaatcttgcaatttCaaaatctcctcttccttgta	11	15	4	11	1	4	0	1	0	3	0	7	2	5	0	2	0	1	2	2	0	5	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:78294029C>G	ENST00000409931.3	-	12	2699	c.2628G>C	c.(2626-2628)ttG>ttC	p.L876F	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L876F			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	876						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTTGCAATTTCAAAATCTCCT	0.418													3	15					0	0	0	0	G	78294029	C	G	78294029	3	3	467	1	0	0	0	0	1	0	0	0	15710	825	29	2	271	2	TBC1D2B	15	78294029	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	19368618	78294029	24237363	207	90613											
CACNA1H	8912	broad.mit.edu	37	chr16	1260953	1260953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgtgctgcgtctgctgcGgaccctgcggcctctgaggt	2	9	16	14	5	2	1	0	1	2	0	2	2	2	2	2	3	5	2	2	3	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:1260953G>A	ENST00000348261.5	+	21	4453	c.4205G>A	c.(4204-4206)cGg>cAg	p.R1402Q	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1402Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1402Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1402					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTCTGCTGCGGACCCTGCGG	0.692													17	183					0	0	0	0	A	1260953	G	A	1260953	3	1	467	1	0	0	0	0	1	0	0	0	2570	1116	39	1	4283	1	CACNA1H	16	1260953	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		1260953	89093800	208	90614											
ATP6V0C	527	broad.mit.edu	37	chr16	2569364	2569364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctggtggtggcagtcctCatcgccaactccctgaatga	7	9	12	13	1	1	2	1	2	0	0	4	2	3	2	4	4	1	1	4	4	2	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:2569364C>G	ENST00000564543.1	+	2	1228	c.1111C>G	c.(1111-1113)Cat>Gat	p.H371D	ATP6V0C_ENST00000565223.1_Silent_p.L32L|ATP6V0C_ENST00000564973.1_Silent_p.L32L|ATP6V0C_ENST00000330398.4_Silent_p.L75L|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.H58D																							TGGCAGTCCTCATCGCCAACT	0.622													6	74					0	0	0	0	G	2569364	C	G	2569364	3	3	467	1	0	0	0	0	1	0	0	0	1176	813	29	2	231	2	ATP6V0C	16	2569364	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1308411	2569364	87785389	209	90615											
ATP6V0C	527	broad.mit.edu	37	chr16	2569686	2569686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatgatcctgattctcatCttcgccgaggtgctcggcct	5	12	11	13	3	2	2	1	2	2	0	6	3	3	2	3	3	1	2	3	3	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:2569686C>G	ENST00000330398.4	+	3	642	c.408C>G	c.(406-408)atC>atG	p.I136M	ATP6V0C_ENST00000565223.1_Missense_Mutation_p.I93M|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.I93M|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6C_ENST00000569317.1_Intron	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	136					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				TGATTCTCATCTTCGCCGAGG	0.617													18	94					0	0	0	0	G	2569686	C	G	2569686	3	3	467	1	0	0	0	0	1	0	0	0	1176	903	32	2	418	2	ATP6V0C	16	2569686	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	322	2569686	87785067	210	90616											
RNF40	9810	broad.mit.edu	37	chr16	30775583	30775583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggtgccagcagcagtgagGaggtggagctggagctgcaa	9	6	19	7	0	0	1	0	1	0	0	0	4	0	4	1	5	6	5	1	5	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:30775583G>A	ENST00000324685.6	+	5	961	c.526G>A	c.(526-528)Gag>Aag	p.E176K	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.E176K|RNF40_ENST00000357890.5_Missense_Mutation_p.E176K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	176					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAGCAGTGAGGAGGTGGAGCT	0.627													4	17					0	0	0	0	A	30775583	G	A	30775583	3	1	467	1	0	0	0	0	1	0	0	0	13578	1175	41	2	540	2	RNF40	16	30775583	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	28205897	30775583	59579170	211	90617											
SLC12A4	6560	broad.mit.edu	37	chr16	67986121	67986121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaaatatagactttatgcCcccagcatagatggagagga	14	9	10	8	0	1	3	1	0	0	3	1	5	1	4	2	2	2	1	2	2	5	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:67986121C>A	ENST00000422611.2	-	6	928	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C	SLC12A4_ENST00000541864.2_Missense_Mutation_p.G264C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G247C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G295C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G295C|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G295C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G289C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	295					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACTTTATGCCCCCAGCATAG	0.498													9	53					3.09899e-07	3.2497e-07	1	0	A	67986121	C	A	67986121	3	1	467	1	0	0	0	0	1	0	0	0	14473	623	22	4	2446	4	SLC12A4	16	67986121	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	37210538	67986121	22368632	212	90618											
CYB5B	80777	broad.mit.edu	37	chr16	69481170	69481170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagcagtactacattggtGatatccatccggtaagaact	14	11	8	8	1	0	2	0	1	0	1	2	2	2	2	2	2	4	3	2	2	7	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:69481170G>A	ENST00000512062.1	+	2	451	c.280G>A	c.(280-282)Gat>Aat	p.D94N	CYB5B_ENST00000561792.1_Missense_Mutation_p.D94N|CYB5B_ENST00000307892.8_Missense_Mutation_p.D98N|CYB5B_ENST00000515314.1_Missense_Mutation_p.D94N			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	94	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				CTACATTGGTGATATCCATCC	0.438													10	77					0	0	0	0	A	69481170	G	A	69481170	3	1	467	1	0	0	0	0	1	0	0	0	4155	1290	45	2	298	2	CYB5B	16	69481170	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1495049	69481170	20873583	213	90619											
CDH13	1012	broad.mit.edu	37	chr16	83712013	83712013	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctctctgtgggcagcgtGctgctgacagtgaatgccac	7	9	13	12	1	1	2	0	2	1	0	2	3	1	2	2	1	4	3	2	1	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:83712013G>T	ENST00000566620.1	+	10	1775	c.1485G>T	c.(1483-1485)gtG>gtT	p.V495V	CDH13_ENST00000268613.10_Silent_p.V542V|CDH13_ENST00000428848.3_Silent_p.V456V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	495	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGGGCAGCGTGCTGCTGACAG	0.617													10	52					2.17888e-05	2.2574e-05	1	0	T	83712013	G	T	83712013	2	4	467	1	0	0	0	0	0	0	0	1	3128	1306	46	4		4	CDH13	16	83712013	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	14230843	83712013	6642740	214	90620											
ATP2C2	9914	broad.mit.edu	37	chr16	84472848	84472848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgggagtgctgcggatgGccaagaagcgggtcatcgtg	7	8	17	9	3	1	1	1	0	0	1	3	3	2	3	2	4	3	1	2	4	2	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:84472848G>A	ENST00000416219.2	+	12	1152	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A355T			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	355					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCTGCGGATGGCCAAGAAGCG	0.567													17	88					0	0	0	0	A	84472848	G	A	84472848	3	1	467	1	0	0	0	0	1	0	0	0	1148	1203	42	4	1109	4	ATP2C2	16	84472848	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	760835	84472848	5881905	215	90621											
MVD	4597	broad.mit.edu	37	chr16	88722565	88722565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactcgggggccacttgcCgagcgatgctgtccttcccg	4	9	14	14	4	0	1	0	1	0	0	3	3	2	1	4	2	3	1	4	2	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:88722565C>T	ENST00000301012.3	-	5	580	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	184					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCACTTGCCGAGCGATGCT	0.692													16	94					0	0	0	0	T	88722565	C	T	88722565	3	4	467	1	0	0	0	0	1	0	0	0	10064	652	23	1	675	1	MVD	16	88722565	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	4249717	88722565	1632188	216	90622											
SMG6	23293	broad.mit.edu	37	chr17	2203590	2203590	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattctttgctaacagtctGcaaacgtcgtccaggctgat	9	12	10	10	2	2	1	0	1	2	0	4	2	3	2	1	2	4	3	1	2	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:2203590G>A	ENST00000544865.1	-	2	874	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	SMG6_ENST00000263073.5_Nonsense_Mutation_p.Q153*			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	153	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTAACAGTCTGCAAACGTCGT	0.468													5	237					0	0	0	0	A	2203590	G	A	2203590	4	1	467	1	0	0	0	0	0	1	0	0	14885	1328	46	4	3874	4	SMG6	17	2203590	Nonsense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		2203590	78991620	217	90623											
PELP1	27043	broad.mit.edu	37	chr17	4607333	4607333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggcccgagctcactgccGagagacccccggtcccgcca	6	3	13	19	5	1	1	1	0	0	1	2	4	2	1	6	2	2	1	6	2	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:4607333G>A	ENST00000301396.4	-	1	299	c.74C>T	c.(73-75)tCg>tTg	p.S25L	PELP1_ENST00000574876.1_Missense_Mutation_p.S25L|PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000572293.1_Missense_Mutation_p.S75L|PELP1_ENST00000269230.7_Missense_Mutation_p.S25L|PELP1_ENST00000436683.2_5'UTR			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	25					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTCACTGCCGAGAGACCCCC	0.701													9	55					0	0	0	0	A	4607333	G	A	4607333	3	1	467	1	0	0	0	0	1	0	0	0	11796	1059	37	1	3386	1	PELP1	17	4607333	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2403743	4607333	76587877	218	90624											
FBXO39	162517	broad.mit.edu	37	chr17	6683808	6683808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggactatttcagccatcaCcttgctgtctacaacagccc	10	10	7	14	0	3	0	2	0	1	0	3	2	3	1	3	1	5	1	3	1	3	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:6683808C>T	ENST00000321535.4	+	2	751	c.621C>T	c.(619-621)caC>caT	p.H207H		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	207										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCAGCCATCACCTTGCTGTCT	0.493													4	58					0	0	0	0	T	6683808	C	T	6683808	2	4	467	1	0	0	0	0	0	0	0	1	5792	506	18	4		4	FBXO39	17	6683808	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2076475	6683808	74511402	219	90625											
BCL6B	255877	broad.mit.edu	37	chr17	6928498	6928498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacctctggatcaccctctGaacgggctcgtccactaccg	8	8	8	17	3	3	1	1	1	2	0	5	2	4	2	4	2	2	1	4	2	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:6928498G>A	ENST00000293805.5	+	5	960	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	290						nucleus	zinc ion binding			skin(1)	1						ATCACCCTCTGAACGGGCTCG	0.567													13	155					0	0	0	0	A	6928498	G	A	6928498	3	1	467	1	0	0	0	0	1	0	0	0	1381	1291	45	2	882	2	BCL6B	17	6928498	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	244690	6928498	74266712	220	90626											
TP53	7157	broad.mit.edu	37	chr17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacgcaaatttccttccactCggataagatgctgaggaggg	11	9	11	10	2	0	2	0	1	0	1	3	4	2	4	2	3	1	2	2	3	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:7578262C>G	ENST00000420246.2	-	6	719	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000269305.4_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(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)		TCCTTCCACTCGGATAAGATG	0.547		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)			34	26					0	0	0	0	G	7578262	C	G	7578262	3	3	467	1	0	0	0	0	1	0	0	0	16476	884	31	3	707	3	TP53	17	7578262	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	649764	7578262	73616948	221	90627											
KSR1	8844	broad.mit.edu	37	chr17	25936334	25936334	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcgggctgtttgggatctCaggcgtggtccgagagggac	5	10	17	9	3	1	1	1	0	1	1	4	4	2	3	1	5	0	2	1	5	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:25936334C>G	ENST00000398988.3	+	18	2304	c.1859C>G	c.(1858-1860)tCa>tGa	p.S620*	KSR1_ENST00000509603.2_Nonsense_Mutation_p.S735*|KSR1_ENST00000319524.6_Nonsense_Mutation_p.S757*|KSR1_ENST00000268763.6_Nonsense_Mutation_p.S620*	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	755	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTTGGGATCTCAGGCGTGGTC	0.542													19	195					0	0	0	0	G	25936334	C	G	25936334	4	3	467	1	0	0	0	0	0	1	0	0	8634	838	29	2	1913	2	KSR1	17	25936334	Nonsense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	18358072	25936334	55258876	222	90628											
TMEM132E	124842	broad.mit.edu	37	chr17	32964777	32964777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttttgtgctgcgctaccgGcacaagcgcatcccgcccga	6	9	11	15	5	0	0	0	0	0	0	1	1	1	0	3	1	4	5	3	1	2	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:32964777G>A	ENST00000321639.5	+	10	2809	c.2481G>A	c.(2479-2481)cgG>cgA	p.R827R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	827						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCGCTACCGGCACAAGCGCA	0.627													4	122					0	0	0	0	A	32964777	G	A	32964777	2	1	467	1	0	0	0	0	0	0	0	1	16142	1190	42	4		4	TMEM132E	17	32964777	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	7028443	32964777	48230433	223	90629											
SLFN5	162394	broad.mit.edu	37	chr17	33591649	33591649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcacatggaagcccTgttacagtccctcgtgatag	9	8	9	15	1	0	1	0	1	0	0	2	2	1	2	4	1	3	2	4	1	3	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:33591649T>C	ENST00000299977.4	+	4	1734	c.1586T>C	c.(1585-1587)cTg>cCg	p.L529P	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	529					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATGGAAGCCCTGTTACAGTCC	0.428													87	61					0	0	0	0	C	33591649	T	C	33591649	3	2	467	1	0	0	0	0	1	0	0	0	14825	1580	55	5	1596	5	SLFN5	17	33591649	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	626872	33591649	47603561	224	90630											
MED1	5469	broad.mit.edu	37	chr17	37566455	37566455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttccatgcggggtgagccGgaagaggagttctgcctttc	7	11	14	9	2	1	2	0	1	1	1	3	4	2	4	3	4	3	1	3	4	1	3	rs148664556	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:37566455G>A	ENST00000300651.6	-	17	2242	c.2019C>T	c.(2017-2019)tcC>tcT	p.S673S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	673	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.			S -> F (in Ref. 9; AAC41736).	androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGGGTGAGCCGGAAGAGGAGT	0.473										HNSCC(31;0.082)			24	134					0	0	0	0	A	37566455	G	A	37566455	2	1	467	1	0	0	0	0	0	0	0	1	9494	1103	39	1		1	MED1	17	37566455	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	3974806	37566455	43628755	225	90631											
TTC25	83538	broad.mit.edu	37	chr17	40094848	40094848	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaagggcggcctgactgtgGaggacctcatcatgacgggc	8	7	16	10	2	2	3	2	3	0	0	2	5	2	5	2	5	0	0	2	5	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:40094848G>A	ENST00000591658.1	+	0	732							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CCTGACTGTGGAGGACCTCAT	0.587													10	186					0	0	0	0	A	40094848	G	A	40094848	1	1	467	0	1	0	0	0	0	0	0	0	16789	1175	41	2		2	TTC25	17	40094848	RNA	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2528393	40094848	41100362	226	90632											
UBTF	7343	broad.mit.edu	37	chr17	42288700	42288700	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcgtaatctttctttttCtgggaaagtgagtggagtca	9	15	10	7	1	4	1	1	1	3	0	5	3	4	3	1	2	0	1	1	2	2	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:42288700C>G	ENST00000302904.4	-	11	1540		c.e11-1		UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000529383.1_Splice_Site			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTTCTTTTTCTGGGAAAGTG	0.582													9	42					0	0	0	0	G	42288700	C	G	42288700	5	3	467	1	0	0	0	0	0	0	1	0	17005	927	32	2	1291	2	UBTF	17	42288700	Splice_Site	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2193852	42288700	38906510	227	90633											
UBTF	7343	broad.mit.edu	37	chr17	42289000	42289000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacttcttgtgataggcgtCcttctccttctgggacagca	7	13	9	12	1	3	1	0	1	3	0	5	2	4	2	2	2	1	1	2	2	1	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:42289000C>A	ENST00000302904.4	-	10	1513	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	UBTF_ENST00000527034.1_Missense_Mutation_p.D304Y|UBTF_ENST00000526094.1_Missense_Mutation_p.D304Y|UBTF_ENST00000436088.1_Missense_Mutation_p.D341Y|UBTF_ENST00000343638.5_Missense_Mutation_p.D304Y|UBTF_ENST00000393606.3_Missense_Mutation_p.D304Y|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.D304Y|UBTF_ENST00000529383.1_Missense_Mutation_p.D341Y			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	341					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGATAGGCGTCCTTCTCCTTC	0.582													12	139					3.07112e-06	3.21071e-06	1	0	A	42289000	C	A	42289000	3	1	467	1	0	0	0	0	1	0	0	0	17005	855	30	2	1321	2	UBTF	17	42289000	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	300	42289000	38906210	228	90634											
TLK2	11011	broad.mit.edu	37	chr17	60663567	60663567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaaaactggagagatgaGaaaaaggagaattaccacaa	23	5	9	4	0	0	3	0	1	0	3	0	7	0	4	1	2	2	0	1	2	9	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:60663567G>A	ENST00000582809.1	+	17	1696	c.993G>A	c.(991-993)gaG>gaA	p.E331E	TLK2_ENST00000346027.5_Silent_p.E480E|TLK2_ENST00000326270.9_Silent_p.E502E|TLK2_ENST00000343388.7_Silent_p.E448E|TLK2_ENST00000542523.1_Silent_p.E448E			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	502					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GGAGAGATGAGAAAAAGGAGA	0.323													8	67					0	0	0	0	A	60663567	G	A	60663567	2	1	467	1	0	0	0	0	0	0	0	1	16038	933	33	2		2	TLK2	17	60663567	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	18374567	60663567	20531643	229	90635											
GRIN2C	2905	broad.mit.edu	37	chr17	72850832	72850832	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatgagtttggacatgcaCcttgggggtgaggaccacag	10	8	15	8	0	0	2	0	2	0	0	0	5	0	4	2	4	1	2	2	4	0	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:72850832C>T	ENST00000293190.5	-	2	546		c.e2+1		GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Splice_Site	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C						glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGGACATGCACCTTGGGGGTG	0.622													4	45					0	0	0	0	T	72850832	C	T	72850832	5	4	467	1	0	0	0	0	0	0	1	0	6831	521	18	4	3349	4	GRIN2C	17	72850832	Splice_Site	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	12187265	72850832	8344378	230	90636											
ROCK1	6093	broad.mit.edu	37	chr18	18600179	18600179	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttcttccagcttatagaTtgttttttgcaaactttcct	7	20	5	9	0	1	1	0	0	1	1	3	1	3	1	2	0	3	4	2	0	3	9	rs45449301		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr18:18600179T>A	ENST00000399799.1	-	12	2234	c.1294A>T	c.(1294-1296)Atc>Ttc	p.I432F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	432	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGCTTATAGATTGTTTTTTGC	0.264													7	64					0	0	0	0	A	18600179	T	A	18600179	3	1	467	1	0	0	0	0	1	0	0	0	13602	1493	52	5	2858	5	ROCK1	18	18600179	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08		18600179	59477069	231	90637											
SMAD4	4089	broad.mit.edu	37	chr18	48575095	48575095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcatgtgatctatgccCgtctctggaggtggcctgat	5	14	11	11	1	3	2	1	2	2	0	5	3	4	3	3	3	1	0	3	3	1	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr18:48575095C>T	ENST00000342988.3	+	3	827	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.R97C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R97C|SMAD4_ENST00000452201.2_Missense_Mutation_p.R97C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	97	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATCTATGCCCGTCTCTGGAG	0.373													13	30					0	0	0	0	T	48575095	C	T	48575095	3	4	467	1	0	0	0	0	1	0	0	0	14848	652	23	1	295	1	SMAD4	18	48575095	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	29974916	48575095	29502153	232	90638											
CCDC102B	79839	broad.mit.edu	37	chr18	66541979	66541979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataaaggaagaatccaaatCtcaaaacagcaaagacagag	22	5	7	7	0	1	3	1	0	1	3	3	4	2	4	1	1	2	1	1	1	9	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr18:66541979C>G	ENST00000360242.5	+	5	1127	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C	CCDC102B_ENST00000319445.6_Missense_Mutation_p.S337C|CCDC102B_ENST00000358653.5_Missense_Mutation_p.S337C|CCDC102B_ENST00000584156.1_Missense_Mutation_p.S337C|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	337										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAATCCAAATCTCAAAACAGC	0.328													9	43					0	0	0	0	G	66541979	C	G	66541979	3	3	467	1	0	0	0	0	1	0	0	0	2762	913	32	2	1024	2	CCDC102B	18	66541979	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	17966884	66541979	11535269	233	90639											
SLC44A2	57153	broad.mit.edu	37	chr19	10747142	10747142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttctggttggccaacttCgtgctggcgctgggccaggt	3	13	14	11	2	2	0	0	0	2	0	3	0	2	0	2	5	2	3	2	5	1	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:10747142C>T	ENST00000586078.1	+	15	1486	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	SLC44A2_ENST00000407327.4_Silent_p.F457F|SLC44A2_ENST00000335757.5_Silent_p.F459F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	459					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGCCAACTTCGTGCTGGCGC	0.647													25	129					0	0	0	0	T	10747142	C	T	10747142	2	4	467	1	0	0	0	0	0	0	0	1	14724	883	31	1		1	SLC44A2	19	10747142	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08		10747142	48381841	234	90640											
TMEM38A	79041	broad.mit.edu	37	chr19	16799014	16799014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgccctggagggctacatCtgccccgtgctgtttggttc	4	12	13	12	1	1	0	0	0	1	0	2	2	1	1	3	3	4	4	3	3	1	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:16799014C>G	ENST00000187762.2	+	6	823	c.732C>G	c.(730-732)atC>atG	p.I244M		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	244						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGGGCTACATCTGCCCCGTGC	0.632													42	335					0	0	0	0	G	16799014	C	G	16799014	3	3	467	1	0	0	0	0	1	0	0	0	16253	903	32	2	754	2	TMEM38A	19	16799014	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	6051872	16799014	42329969	235	90641											
JAK3	3718	broad.mit.edu	37	chr19	17951090	17951090	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtcctgggggctgcggcgGagaacataggagccaggacg	10	4	18	9	3	0	1	0	0	0	1	1	4	1	3	2	6	3	1	2	6	3	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:17951090G>A	ENST00000458235.1	-	9	1302	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	JAK3_ENST00000534444.1_Silent_p.L401L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.L401L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	401	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGCTGCGGCGGAGAACATAGG	0.597		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								4	40					0	0	0	0	A	17951090	G	A	17951090	2	1	467	1	0	0	0	0	0	0	0	1	7992	1161	41	2		2	JAK3	19	17951090	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1152076	17951090	41177893	236	90642											
UPF1	5976	broad.mit.edu	37	chr19	18974385	18974385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgagagcctcatgcagttCagcaagccacggaagctggt	10	7	13	11	2	2	1	2	1	0	1	2	3	2	2	2	2	5	4	2	2	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:18974385C>G	ENST00000262803.5	+	19	3011	c.2739C>G	c.(2737-2739)ttC>ttG	p.F913L	UPF1_ENST00000599848.1_Missense_Mutation_p.F924L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	924					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCATGCAGTTCAGCAAGCCAC	0.592													9	56					0	0	0	0	G	18974385	C	G	18974385	3	3	467	1	0	0	0	0	1	0	0	0	17099	825	29	2	2813	2	UPF1	19	18974385	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	1023295	18974385	40154598	237	90643											
SLC25A42	284439	broad.mit.edu	37	chr19	19216416	19216416	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcaacgagggatttcTcagcttgtggcgcgggaact	8	10	12	11	3	2	0	2	0	1	0	3	3	2	2	1	3	4	1	1	3	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:19216416T>A	ENST00000318596.7	+	5	411	c.260T>A	c.(259-261)cTc>cAc	p.L87H	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	87					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GAGGGATTTCTCAGCTTGTGG	0.632													4	36					0	0	0	0	A	19216416	T	A	19216416	3	1	467	1	0	0	0	0	1	0	0	0	14595	1551	54	5	274	5	SLC25A42	19	19216416	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	242031	19216416	39912567	238	90644											
FXYD5	53827	broad.mit.edu	37	chr19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacacaccctccggaaaCgggggctgttggtcgcagct	9	7	13	12	3	0	1	0	1	0	0	2	2	1	2	2	4	3	4	2	4	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	145					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552													91	221					0	0	0	0	T	35657174	C	T	35657174	3	4	467	1	0	0	0	0	1	0	0	0	6169	527	19	1	459	1	FXYD5	19	35657174	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	16440758	35657174	23471809	239	90645											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278688	36278688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtctggaggagctctctggGcccccctgcaccactcgaca	7	7	11	16	1	2	0	0	0	2	0	4	3	2	2	4	3	2	2	4	3	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:36278688G>A	ENST00000007510.4	+	21	3365	c.3221G>A	c.(3220-3222)gGc>gAc	p.G1074D	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G913D|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G910D			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1074					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGCTCTCTGGGCCCCCCTGCA	0.662													8	69					0	0	0	0	A	36278688	G	A	36278688	3	1	467	1	0	0	0	0	1	0	0	0	884	1203	42	4	3303	4	ARHGAP33	19	36278688	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	621514	36278688	22850295	240	90646											
ZNF567	163081	broad.mit.edu	37	chr19	37211354	37211354	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagcaggaagtcatatctCattcatcatcaaagaactca	15	12	5	9	0	6	1	6	0	1	1	7	2	6	2	0	1	2	1	0	1	5	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:37211354C>G	ENST00000585696.1	+	3	2865	c.1635C>G	c.(1633-1635)ctC>ctG	p.L545L	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.L576L|ZNF567_ENST00000588311.1_Silent_p.L545L|ZNF567_ENST00000392163.2_Silent_p.L545L|ZNF567_ENST00000360729.4_Silent_p.L545L			Q8N184	ZN567_HUMAN	zinc finger protein 567	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATATCTCATTCATCATC	0.413													12	87					0	0	0	0	G	37211354	C	G	37211354	2	3	467	1	0	0	0	0	0	0	0	1	18093	813	29	2		2	ZNF567	19	37211354	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	932666	37211354	21917629	241	90647											
FCGBP	8857	broad.mit.edu	37	chr19	40433288	40433288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggtaggggtcataagtCacttcattccttatggcacc	10	11	9	11	0	3	0	3	0	0	0	4	0	4	0	3	4	0	2	3	4	3	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:40433288C>T	ENST00000221347.6	-	2	988	c.981G>A	c.(979-981)gtG>gtA	p.V327V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	327	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTCATAAGTCACTTCATTCC	0.567													9	64					0	0	0	0	T	40433288	C	T	40433288	2	4	467	1	0	0	0	0	0	0	0	1	5823	813	29	2		2	FCGBP	19	40433288	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	3221934	40433288	18695695	242	90648											
GIPR	2696	broad.mit.edu	37	chr19	46181398	46181398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgggtgtccacgaggtgGtgtttgctcccgtgacagag	5	11	16	9	2	0	2	0	1	0	1	2	3	2	2	2	3	2	3	2	3	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:46181398G>A	ENST00000590918.1	+	12	1165	c.1066G>A	c.(1066-1068)Gtg>Atg	p.V356M	GIPR_ENST00000304207.8_Missense_Mutation_p.V320M|GIPR_ENST00000263281.3_Missense_Mutation_p.V356M	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	356					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				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)		CCACGAGGTGGTGTTTGCTCC	0.672													10	27					0	0	0	0	A	46181398	G	A	46181398	3	1	467	1	0	0	0	0	1	0	0	0	6446	1261	44	4	1108	4	GIPR	19	46181398	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	5748110	46181398	12947585	243	90649											
VSTM1	284415	broad.mit.edu	37	chr19	54544280	54544280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggtgtctgaagctgcctCagacagggcgctggtgctta	6	10	16	9	1	2	2	1	1	1	1	2	2	2	2	1	4	3	3	1	4	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:54544280C>G	ENST00000338372.2	-	9	821	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.E128Q|VSTM1_ENST00000376626.1_Missense_Mutation_p.E185Q	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	216						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GAAGCTGCCTCAGACAGGGCG	0.527													5	37					0	0	0	0	G	54544280	C	G	54544280	3	3	467	1	0	0	0	0	1	0	0	0	17324	835	29	2	68	2	VSTM1	19	54544280	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	8362882	54544280	4584703	244	90650											
BRSK1	84446	broad.mit.edu	37	chr19	55798463	55798463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgtcggagtcggtgctGatgaaggtgtgtgcgcctgc	6	10	17	8	3	0	2	0	2	0	0	2	3	0	3	1	3	4	2	1	3	2	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:55798463G>A	ENST00000309383.1	+	2	502	c.225G>A	c.(223-225)ctG>ctA	p.L75L	BRSK1_ENST00000590333.1_Silent_p.L91L|BRSK1_ENST00000585418.1_Silent_p.L75L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	75	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGTCGGTGCTGATGAAGGTGT	0.662													15	59					0	0	0	0	A	55798463	G	A	55798463	2	1	467	1	0	0	0	0	0	0	0	1	1531	1277	45	2		2	BRSK1	19	55798463	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1254183	55798463	3330520	245	90651											
SUV420H2	84787	broad.mit.edu	37	chr19	55858809	55858809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctggatgtcggcggtgaaGagctgtgacaggccggacgg	8	6	18	9	4	0	3	0	2	0	1	1	5	0	5	2	6	1	1	2	6	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:55858809G>A	ENST00000255613.3	+	9	1629	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGGCGGTGAAGAGCTGTGACA	0.672													5	20					0	0	0	0	A	55858809	G	A	55858809	3	1	467	1	0	0	0	0	1	0	0	0	15505	943	33	2	1411	2	SUV420H2	19	55858809	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	60346	55858809	3270174	246	90652											
SEL1L2	80343	broad.mit.edu	37	chr20	13850197	13850197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcgtcgggccaccctttttCcgcagctttctgaaagtatt	6	14	9	12	3	1	1	0	1	1	0	3	1	2	1	3	1	2	3	3	1	2	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:13850197C>G	ENST00000284951.5	-	14	1281	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E403Q|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	403						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CACCCTTTTTCCGCAGCTTTC	0.388													9	66					0	0	0	0	G	13850197	C	G	13850197	3	3	467	1	0	0	0	0	1	0	0	0	14098	864	30	2	887	2	SEL1L2	20	13850197	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08		13850197	49175323	247	90653											
CHD6	84181	broad.mit.edu	37	chr20	40161822	40161822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcttcggctccttgtgctCcttggccttcttcggctcct	0	17	9	15	2	1	0	0	0	1	0	6	0	4	0	4	3	2	4	4	3	0	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:40161822C>T	ENST00000373233.3	-	3	598	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CHD6_ENST00000373222.3_Missense_Mutation_p.E176K|CHD6_ENST00000309279.7_Missense_Mutation_p.E141K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	141	Lys-rich.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCTTGTGCTCCTTGGCCTTC	0.572													9	330					0	0	0	0	T	40161822	C	T	40161822	3	4	467	1	0	0	0	0	1	0	0	0	3358	864	30	2	7866	2	CHD6	20	40161822	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	26311625	40161822	22863698	248	90654											
PKIG	11142	broad.mit.edu	37	chr20	43243305	43243305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagaggctgtgagcgtgagGaagctggctggagacatggg	9	7	19	6	1	1	4	1	2	0	2	1	6	1	5	0	5	2	3	0	5	1	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:43243305G>A	ENST00000372889.1	+	5	693	c.108G>A	c.(106-108)agG>agA	p.R36R	PKIG_ENST00000372891.3_Silent_p.R36R|PKIG_ENST00000372886.1_Silent_p.R36R|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372894.3_Silent_p.R36R|PKIG_ENST00000372882.3_Silent_p.R36R|PKIG_ENST00000372892.3_Silent_p.R36R|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372887.1_Silent_p.R36R|PKIG_ENST00000349959.3_Silent_p.R36R			Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	36							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			TGAGCGTGAGGAAGCTGGCTG	0.642													10	61					0	0	0	0	A	43243305	G	A	43243305	2	1	467	1	0	0	0	0	0	0	0	1	12047	1165	41	2		2	PKIG	20	43243305	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	3081483	43243305	19782215	249	90655											
RBPJL	11317	broad.mit.edu	37	chr20	43945591	43945591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttccacctcttcatcCagacttaggcgcgcccggta	8	9	7	17	3	2	1	1	0	1	1	4	1	4	1	5	2	1	1	5	2	3	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:43945591C>A	ENST00000343694.3	+	12	1618	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.Q515K	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	516					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTCTTCATCCAGACTTAGGC	0.706													31	94					8.16721e-17	8.86065e-17	1	0	A	43945591	C	A	43945591	3	1	467	1	0	0	0	0	1	0	0	0	13244	595	21	4	1592	4	RBPJL	20	43945591	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	702286	43945591	19079929	250	90656											
SULF2	55959	broad.mit.edu	37	chr20	46305857	46305857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggagtcccgccagaccctCatcttctttttcaagtgaaa	11	11	7	12	1	4	2	2	1	2	1	5	3	5	3	3	1	0	0	3	1	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:46305857C>T	ENST00000359930.4	-	9	2066	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	SULF2_ENST00000467815.1_Missense_Mutation_p.M405I|SULF2_ENST00000484875.1_Missense_Mutation_p.M405I|SULF2_ENST00000361612.4_Missense_Mutation_p.M405I	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	405					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCCAGACCCTCATCTTCTTTT	0.617													18	90					0	0	0	0	T	46305857	C	T	46305857	3	4	467	1	0	0	0	0	1	0	0	0	15461	826	29	2	1449	2	SULF2	20	46305857	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2360266	46305857	16719663	251	90657											
ZNF831	128611	broad.mit.edu	37	chr20	57767486	57767486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggccccgggccccgtgcGctccacctggacgcccccag	4	3	14	20	4	0	0	0	0	0	0	1	2	1	1	8	3	1	1	8	3	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:57767486G>A	ENST00000371030.2	+	1	1412	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	471						intracellular	nucleic acid binding|zinc ion binding	p.R471L(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)					GGCCCCGTGCGCTCCACCTGG	0.672													6	48					0	0	0	0	A	57767486	G	A	57767486	3	1	467	1	0	0	0	0	1	0	0	0	18278	1087	38	1	1414	1	ZNF831	20	57767486	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	11461629	57767486	5258034	252	90658											
SLCO4A1	28231	broad.mit.edu	37	chr20	61299837	61299837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctattgcagatgtgtccGtgaccctcagagatcctttg	7	15	9	10	1	2	3	1	1	1	2	4	4	4	3	3	0	1	1	3	0	1	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:61299837G>A	ENST00000217159.1	+	10	2025	c.1820G>A	c.(1819-1821)cGt>cAt	p.R607H	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R607H	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	607					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AGATGTGTCCGTGACCCTCAG	0.547											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	165					0	0	0	0	A	61299837	G	A	61299837	3	1	467	1	0	0	0	0	1	0	0	0	14817	1145	40	1	1854	1	SLCO4A1	20	61299837	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	3532351	61299837	1725683	253	90659											
BAGE2	85319	broad.mit.edu	37	chr21	11039231	11039231	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttgattcttctttggatAccactgttttaggttcctct	5	19	7	10	0	3	1	0	1	3	0	4	2	4	2	3	2	1	2	3	2	2	8			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr21:11039231A>G	ENST00000470054.1	-	0	972									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)		TTCTTTGGATACCACTGTTTT	0.408													11	504					0	0	0	0	G	11039231	A	G	11039231	1	3	467	0	1	0	0	0	0	0	0	0	1296	406	14	5		5	BAGE2	21	11039231	RNA	SNP	A	TCGA-P3-A6T5-01A-11D-A34J-08		11039231	37090664	254	90660											
SEZ6L	23544	broad.mit.edu	37	chr22	26688618	26688618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgccccaagcacgccttgcCccccaagaagaaactgcctt	10	5	7	19	2	0	2	0	0	0	2	0	2	0	2	8	0	4	1	8	0	4	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:26688618C>A	ENST00000529632.2	+	2	537	c.341C>A	c.(340-342)cCc>cAc	p.P114H	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P114H|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P114H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P114H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P114H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	114						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACGCCTTGCCCCCCAAGAAG	0.652													5	21					0.014758	0.014758	1	0	A	26688618	C	A	26688618	3	1	467	1	0	0	0	0	1	0	0	0	14230	623	22	4	347	4	SEZ6L	22	26688618	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08		26688618	24615948	255	90661											
CRYBA4	1413	broad.mit.edu	37	chr22	27024266	27024266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtagaaccaccgtgactcGaggctgacaatcttcgagca	11	8	10	12	3	1	3	0	2	1	1	3	5	1	3	2	1	2	3	2	1	3	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:27024266G>A	ENST00000354760.3	+	5	350	c.315G>A	c.(313-315)tcG>tcA	p.S105S	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	105	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACCGTGACTCGAGGCTGACAA	0.567													14	104					0	0	0	0	A	27024266	G	A	27024266	2	1	467	1	0	0	0	0	0	0	0	1	3939	1045	37	1		1	CRYBA4	22	27024266	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	335648	27024266	24280300	256	90662											
PATZ1	23598	broad.mit.edu	37	chr22	31731763	31731763	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgctgcccgcaagtacttCccacacacctggcagggcac	9	7	9	16	1	0	0	0	0	0	0	1	0	1	0	3	2	3	5	3	2	3	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:31731763C>T	ENST00000266269.5	-	3	2051	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000351933.4_Silent_p.G474G|PATZ1_ENST00000405309.3_Silent_p.G474G|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	474					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCAAGTACTTCCCACACACCT	0.567													7	107					0	0	0	0	T	31731763	C	T	31731763	2	4	467	1	0	0	0	0	0	0	0	1	11547	842	30	2		2	PATZ1	22	31731763	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	4707497	31731763	19572803	257	90663											
APOL1	8542	broad.mit.edu	37	chr22	36662064	36662064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattataagattctgcaggcGgaccaagaactgtgaccaca	15	8	9	9	1	1	3	0	1	1	2	1	4	1	4	2	2	2	1	2	2	5	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:36662064G>A	ENST00000319136.4	+	7	1497	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	APOL1_ENST00000422706.1_Silent_p.A394A|APOL1_ENST00000397279.4_Silent_p.A394A|APOL1_ENST00000347595.7_Silent_p.A273A|APOL1_ENST00000397278.3_Silent_p.A394A|APOL1_ENST00000426053.1_Silent_p.A376A	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	394					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TTCTGCAGGCGGACCAAGAAC	0.498													4	79					0	0	0	0	A	36662064	G	A	36662064	2	1	467	1	0	0	0	0	0	0	0	1	807	1103	39	1		1	APOL1	22	36662064	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	4930301	36662064	14642502	258	90664											
KCNJ4	3761	broad.mit.edu	37	chr22	38824115	38824115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccggggcacgtgggcctggCcgttgcggctgtgtccgtgc	1	8	19	13	5	0	0	0	0	0	0	1	0	1	0	4	5	2	3	4	5	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:38824115C>T	ENST00000303592.3	-	2	281	c.23G>A	c.(22-24)gGc>gAc	p.G8D		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	8					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGCCTGGCCGTTGCGGCT	0.657													7	476					0	0	0	0	T	38824115	C	T	38824115	3	4	467	1	0	0	0	0	1	0	0	0	8106	739	26	4	1318	4	KCNJ4	22	38824115	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	2162051	38824115	12480451	259	90665											
EFCAB6	64800	broad.mit.edu	37	chr22	44083443	44083443	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccaattgattttagtGgtggctttaagtccaaatct	9	17	8	7	0	1	1	0	1	1	0	3	1	3	1	2	2	1	2	2	2	4	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:44083443G>A	ENST00000262726.7	-	11	1303	c.1050C>T	c.(1048-1050)acC>acT	p.T350T	EFCAB6_ENST00000396231.2_Silent_p.T198T|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGATTTTAGTGGTGGCTTTAA	0.328													34	101					0	0	0	0	A	44083443	G	A	44083443	2	1	467	1	0	0	0	0	0	0	0	1	4975	1335	47	4		4	EFCAB6	22	44083443	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	5259328	44083443	7221123	260	90666											
LDOC1L	84247	broad.mit.edu	37	chr22	44893383	44893383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcatccatctgggcattCggagacgctgccaaggctgg	8	8	13	12	3	2	1	1	0	1	1	4	2	3	1	2	4	1	3	2	4	1	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:44893383C>T	ENST00000341255.3	-	2	563	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	18										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TCTGGGCATTCGGAGACGCTG	0.642													7	53					0	0	0	0	T	44893383	C	T	44893383	2	4	467	1	0	0	0	0	0	0	0	1	8763	871	31	1		1	LDOC1L	22	44893383	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	809940	44893383	6411183	261	90667											
FAM118A	55007	broad.mit.edu	37	chr22	45732284	45732284	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaaaaaaacgcacacaatCagatactggtattgtgtctg	15	11	7	8	1	3	1	2	0	1	1	3	1	3	1	0	1	2	2	0	1	6	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:45732284C>G	ENST00000216214.3	+	9	1880	c.1046C>G	c.(1045-1047)tCa>tGa	p.S349*	FAM118A_ENST00000405548.3_Nonsense_Mutation_p.S167*|FAM118A_ENST00000441876.2_Nonsense_Mutation_p.S349*	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	349						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGCACACAATCAGATACTGGT	0.448													5	61					0	0	0	0	G	45732284	C	G	45732284	4	3	467	1	0	0	0	0	0	1	0	0	5452	838	29	2	1072	2	FAM118A	22	45732284	Nonsense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	838901	45732284	5572282	262	90668											
SMC1B	27127	broad.mit.edu	37	chr22	45765859	45765859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcaatttcttgttgccGtttaacatgtttgttctcaa	8	20	6	7	1	3	1	2	1	2	0	4	1	3	1	1	0	2	4	1	0	3	8			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:45765859G>A	ENST00000357450.4	-	15	2394	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W	SMC1B_ENST00000404354.3_Missense_Mutation_p.R799W	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	799					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTTGTTGCCGTTTAACATGT	0.264													7	158					0	0	0	0	A	45765859	G	A	45765859	3	1	467	1	0	0	0	0	1	0	0	0	14870	1144	40	1	1356	1	SMC1B	22	45765859	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	33575	45765859	5538707	263	90669											
SHOX	6473	broad.mit.edu	37	chrX	601763	601763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcacagccaaccacctaGacgcctgccgagtggcaccc	9	4	11	17	2	0	1	0	0	0	1	0	2	0	1	6	2	3	2	6	2	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:601763G>A	ENST00000381578.1	+	5	1265	c.574G>A	c.(574-576)Gac>Aac	p.D192N	SHOX_ENST00000334060.3_Missense_Mutation_p.D192N|SHOX_ENST00000554971.1_Missense_Mutation_p.D192N|SHOX_ENST00000381575.1_Missense_Mutation_p.D192N	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	192					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAACCACCTAGACGCCTGCCG	0.582													4	80					0	0	0	0	A	601763	G	A	601763	3	1	467	1	0	0	0	0	1	0	0	0	14376	942	33	2	588	2	SHOX	23	601763	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08		601763	154668797	264	90670											
MAP3K15	389840	broad.mit.edu	37	chrX	19416433	19416433	+	Frame_Shift_Del	DEL	C	C	-																															acaatcccatacgtgcctttCcccaagacaactctctcacc																										TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:19416433delC	ENST00000338883.4	-	15	1976	c.1977delG	c.(1975-1977)ggfs	p.G659fs	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.G491fs|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.G94fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	659	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ACGTGCCTTTCCCCAAGACAA	0.463													29	202	---	---	---	---					-	19416433	C	-	19416433	7	5	467	1	0	1	0	1	0	0	0	0	9318	842	30	0	2024	0	MAP3K15	23	19416433	Frame_Shift_Del	DEL	C	TCGA-P3-A6T5-01A-11D-A34J-08	18814670	19416433	135854127	265	90671											
CNKSR2	22866	broad.mit.edu	37	chrX	21581470	21581470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaagaagggtgataagaGtaatagcccaactcactatt	19	8	8	6	0	1	3	1	1	0	2	1	3	1	3	1	1	2	1	1	1	9	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:21581470G>C	ENST00000425654.2	+	12	1898	c.1418G>C	c.(1417-1419)aGt>aCt	p.S473T	CNKSR2_ENST00000543067.1_Missense_Mutation_p.S454T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S503T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S503T|CNKSR2_ENST00000485012.1_3'UTR	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	503	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGTGATAAGAGTAATAGCCCA	0.408													13	78					0	0	0	0	C	21581470	G	C	21581470	3	2	467	1	0	0	0	0	1	0	0	0	3637	1029	36	4	1558	4	CNKSR2	23	21581470	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2165037	21581470	133689090	266	90672											
FAM47A	158724	broad.mit.edu	37	chrX	34149447	34149447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacaccggagtcttgggagGctcctggcggagatgggaca	8	6	18	9	2	1	1	0	0	1	1	2	6	2	5	2	7	0	1	2	7	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:34149447G>T	ENST00000346193.3	-	1	1000	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	317										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCTTGGGAGGCTCCTGGCGG	0.597													7	35					0.00198382	0.00201893	1	0	T	34149447	G	T	34149447	3	4	467	1	0	0	0	0	1	0	0	0	5616	1203	42	4	1430	4	FAM47A	23	34149447	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	12567977	34149447	121121113	267	90673											
SUV39H1	6839	broad.mit.edu	37	chrX	48565906	48565906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctcccctaagaagcGggtccgtattgaatgcaagt	9	9	11	12	2	0	2	0	1	0	1	2	2	2	2	4	2	2	3	4	2	5	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:48565906G>A	ENST00000376687.3	+	6	1374	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000453214.2_3'UTR|SUV39H1_ENST00000337852.6_Missense_Mutation_p.R406Q|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	395					cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CCTAAGAAGCGGGTCCGTATT	0.592													17	113					0	0	0	0	A	48565906	G	A	48565906	3	1	467	1	0	0	0	0	1	0	0	0	15502	1116	39	1	1206	1	SUV39H1	23	48565906	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	14416459	48565906	106704654	268	90674											
HUWE1	10075	broad.mit.edu	37	chrX	53562351	53562351	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatttcccctacctgtcaTtctcatctggcataccaggt	9	13	5	14	0	3	0	2	0	2	0	5	0	4	0	4	2	3	1	4	2	3	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:53562351T>C	ENST00000342160.3	-	80	13100	c.12643A>G	c.(12643-12645)Atg>Gtg	p.M4215V	HUWE1_ENST00000262854.6_Missense_Mutation_p.M4215V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4215	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTACCTGTCATTCTCATCTGG	0.438													8	51					0	0	0	0	C	53562351	T	C	53562351	3	2	467	1	0	0	0	0	1	0	0	0	7514	1493	52	5	497	5	HUWE1	23	53562351	Missense_Mutation	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	4996445	53562351	101708209	269	90675											
ACRC	93953	broad.mit.edu	37	chrX	70823738	70823738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacgacaacagtgatgattCatccgacgacaacagtgatg	14	7	10	10	4	1	3	1	3	0	0	2	7	2	3	1	0	2	0	1	0	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:70823738C>T	ENST00000373695.1	+	7	1148	c.611C>T	c.(610-612)tCa>tTa	p.S204L	ACRC_ENST00000373696.3_Missense_Mutation_p.S204L			Q96QF7	ACRC_HUMAN	acidic repeat containing	204	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGTGATGATTCATCCGACGAC	0.498													71	397					0	0	0	0	T	70823738	C	T	70823738	3	4	467	1	0	0	0	0	1	0	0	0	171	838	29	2	637	2	ACRC	23	70823738	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	17261387	70823738	84446822	270	90676											
HDX	139324	broad.mit.edu	37	chrX	83724155	83724155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccatagtttttctttgcGtgattgaatactgagtttcc	7	20	7	7	1	1	3	0	3	1	0	3	3	3	3	2	0	2	2	2	0	3	8	rs149996033		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:83724155G>A	ENST00000297977.5	-	3	687	c.576C>T	c.(574-576)caC>caT	p.H192H	HDX_ENST00000506585.2_Silent_p.H134H|HDX_ENST00000373177.2_Silent_p.H192H	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTCTTTGCGTGATTGAATA	0.388													31	163					0	0	0	0	A	83724155	G	A	83724155	2	1	467	1	0	0	0	0	0	0	0	1	7076	1136	40	1		1	HDX	23	83724155	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	12900417	83724155	71546405	271	90677											
ZNF711	7552	broad.mit.edu	37	chrX	84525922	84525922	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacgaagatacagagaggcTagtccactgagttccaataa	16	7	9	9	1	0	3	0	1	0	2	2	5	2	3	2	1	1	2	2	1	5	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:84525922T>A	ENST00000360700.4	+	10	2398	c.1512T>A	c.(1510-1512)gcT>gcA	p.A504A	ZNF711_ENST00000373165.3_Silent_p.A458A|ZNF711_ENST00000276123.3_Silent_p.A458A|ZNF711_ENST00000542798.1_Silent_p.A300A|ZNF711_ENST00000395402.1_Silent_p.A466A			Q9Y462	ZN711_HUMAN	zinc finger protein 711	458					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGAGAGGCTAGTCCACTGA	0.383													8	35					0	0	0	0	A	84525922	T	A	84525922	2	1	467	1	0	0	0	0	0	0	0	1	18211	1509	53	5		5	ZNF711	23	84525922	Silent	SNP	T	TCGA-P3-A6T5-01A-11D-A34J-08	801767	84525922	70744638	272	90678											
KLHL4	56062	broad.mit.edu	37	chrX	86887271	86887271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctacatattggcaccatGaatggccgtaggcttcaatt	10	12	10	9	1	1	1	1	1	0	0	1	1	1	1	2	4	1	4	2	4	5	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:86887271G>A	ENST00000373119.4	+	7	1531	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M462I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	462						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTGGCACCATGAATGGCCGTA	0.393													10	71					0	0	0	0	A	86887271	G	A	86887271	3	1	467	1	0	0	0	0	1	0	0	0	8443	1290	45	2	1412	2	KLHL4	23	86887271	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	2361349	86887271	68383289	273	90679											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011449	105011449	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaatcaggcactgttgcaGaggttataaacatgagatac	15	9	10	7	0	1	2	1	1	0	2	1	3	1	2	0	2	3	5	0	2	5	4			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:105011449G>C	ENST00000372582.1	+	11	2612	c.1856G>C	c.(1855-1857)aGa>aCa	p.R619T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R619T|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.R224T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	619					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CACTGTTGCAGAGGTTATAAA	0.483													25	124					0	0	0	0	C	105011449	G	C	105011449	3	2	467	1	0	0	0	0	1	0	0	0	7715	942	33	2	1894	2	IL1RAPL2	23	105011449	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	18124178	105011449	50259111	274	90680											
CUL4B	8450	broad.mit.edu	37	chrX	119670819	119670819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccataggcacatatgtcGgccaatagcccattgtcagg	10	10	9	12	1	1	0	1	0	0	0	3	0	2	0	3	3	1	1	3	3	4	5			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:119670819G>T	ENST00000371322.5	-	15	2070	c.2009C>A	c.(2008-2010)cCg>cAg	p.P670Q	CUL4B_ENST00000404115.3_Missense_Mutation_p.P688Q|CUL4B_ENST00000336592.6_Missense_Mutation_p.P675Q	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	688					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CACATATGTCGGCCAATAGCC	0.373													26	140					9.80776e-20	1.06741e-19	1	0	T	119670819	G	T	119670819	3	4	467	1	0	0	0	0	1	0	0	0	4090	1116	39	3	702	3	CUL4B	23	119670819	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	14659370	119670819	35599741	275	90681											
CT47B1	643311	broad.mit.edu	37	chrX	120009411	120009411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgctgctgtcggggccGgagtcgccgccctcctggtt	2	10	15	14	5	0	0	0	0	0	0	4	1	1	1	4	4	1	3	4	4	0	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:120009411G>A	ENST00000371311.3	-	1	368	c.114C>T	c.(112-114)tcC>tcT	p.S38S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	38										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TGTCGGGGCCGGAGTCGCCGC	0.741													17	85					0	0	0	0	A	120009411	G	A	120009411	2	1	467	1	0	0	0	0	0	0	0	1	4021	1103	39	1		1	CT47B1	23	120009411	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	338592	120009411	35261149	276	90682											
XIAP	331	broad.mit.edu	37	chrX	123019598	123019598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgtagaagagtttaataGattaaaaacttttgctaatt	16	17	6	2	0	0	3	0	0	0	3	0	3	0	3	0	0	2	3	0	0	8	10			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:123019598G>C	ENST00000371199.3	+	2	385	c.86G>C	c.(85-87)aGa>aCa	p.R29T	XIAP_ENST00000434753.3_Missense_Mutation_p.R29T|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.R29T	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	29					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GAGTTTAATAGATTAAAAACT	0.368									X-linked Lymphoproliferative syndrome				42	139					0	0	0	0	C	123019598	G	C	123019598	3	2	467	1	0	0	0	0	1	0	0	0	17524	942	33	2	88	2	XIAP	23	123019598	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	3010187	123019598	32250962	277	90683											
BCORL1	63035	broad.mit.edu	37	chrX	129148458	129148458	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacagcctctgctgccagcCcccagtgggagctcagcccc	6	5	10	20	0	2	0	1	0	1	0	2	1	2	1	7	1	6	2	7	1	0	0			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:129148458C>A	ENST00000540052.1	+	3	1754	c.1710C>A	c.(1708-1710)gcC>gcA	p.A570A	BCORL1_ENST00000303743.5_Silent_p.A570A|BCORL1_ENST00000218147.7_Silent_p.A570A|BCORL1_ENST00000359304.2_Silent_p.A570A	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	570	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCTGCCAGCCCCCAGTGGGA	0.617													24	83					1.10513e-12	1.18776e-12	1	0	A	129148458	C	A	129148458	2	1	467	1	0	0	0	0	0	0	0	1	1391	610	22	4		4	BCORL1	23	129148458	Silent	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	6128860	129148458	26122102	278	90684											
MMGT1	93380	broad.mit.edu	37	chrX	135047200	135047200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttaacgacgcagtgattCgagttttcgtaacttcaatg	11	14	8	8	4	2	1	1	1	1	0	4	3	2	1	0	0	2	3	0	0	3	6			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:135047200C>T	ENST00000305963.2	-	4	766	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MMGT1_ENST00000433339.2_Missense_Mutation_p.E192K	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	127						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						CGCAGTGATTCGAGTTTTCGT	0.413													31	256					0	0	0	0	T	135047200	C	T	135047200	3	4	467	1	0	0	0	0	1	0	0	0	9716	893	31	1	20	1	MMGT1	23	135047200	Missense_Mutation	SNP	C	TCGA-P3-A6T5-01A-11D-A34J-08	5898742	135047200	20223360	279	90685											
GABRE	2564	broad.mit.edu	37	chrX	151131098	151131098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccaggtctgggagaagatGatgtcaatggtgtattcctg	10	12	13	6	0	2	3	1	1	1	2	3	4	3	3	2	3	1	1	2	3	4	3			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:151131098G>A	ENST00000370325.1	-	4	413	c.360C>T	c.(358-360)atC>atT	p.I120I	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.I120I			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	120					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGAAGATGATGTCAATGG	0.478													14	103					0	0	0	0	A	151131098	G	A	151131098	2	1	467	1	0	0	0	0	0	0	0	1	6218	1280	45	2		2	GABRE	23	151131098	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	16083898	151131098	4139462	280	90686											
MAGEA10	4109	broad.mit.edu	37	chrX	151303851	151303851	+	Frame_Shift_Del	DEL	G	G	-																															gagcactctggggaggatttGgtgtctcatcatcagcagaa																										TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:151303851delG	ENST00000370323.4	-	4	558	c.242delC	c.(241-243)cafs	p.P81fs	MAGEA10_ENST00000244096.3_Frame_Shift_Del_p.P81fs|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	81										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGATTTGGTGTCTCATC	0.537													29	187	---	---	---	---					-	151303851	G	-	151303851	7	5	467	1	0	1	0	1	0	0	0	0	9229	1348	47	0	871	0	MAGEA10	23	151303851	Frame_Shift_Del	DEL	G	TCGA-P3-A6T5-01A-11D-A34J-08	172753	151303851	3966709	281	90687											
MAGEA3	4102	broad.mit.edu	37	chrX	151935675	151935675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtccacttccatcagctcGatgccaaagaccagctgcaa	11	7	9	14	1	1	1	1	0	0	1	4	2	3	1	4	1	4	3	4	1	2	1			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:151935675G>A	ENST00000393902.3	-	3	1059	c.492C>T	c.(490-492)atC>atT	p.I164I	MAGEA3_ENST00000370278.3_Silent_p.I164I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	164	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTCGATGCCAAAGA	0.532													6	214					0	0	0	0	A	151935675	G	A	151935675	2	1	467	1	0	0	0	0	0	0	0	1	9234	1048	37	1		1	MAGEA3	23	151935675	Silent	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	631824	151935675	3334885	282	90688											
TKTL1	8277	broad.mit.edu	37	chrX	153555958	153555958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgccactgtgtcagtGacaaggtcacagttattgga	9	11	10	11	1	2	1	2	1	0	0	4	2	4	2	3	2	0	1	3	2	2	2			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:153555958G>T	ENST00000369915.3	+	11	1612	c.1423G>T	c.(1423-1425)Gac>Tac	p.D475Y	TKTL1_ENST00000369912.2_Missense_Mutation_p.D419Y|TKTL1_ENST00000217905.7_Missense_Mutation_p.D215Y|TKTL1_ENST00000482044.1_3'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	475					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTGTCAGTGACAAGGTCAC	0.468													21	131					1.50039e-11	1.60756e-11	1	0	T	153555958	G	T	153555958	3	4	467	1	0	0	0	0	1	0	0	0	16029	1290	45	2	1465	2	TKTL1	23	153555958	Missense_Mutation	SNP	G	TCGA-P3-A6T5-01A-11D-A34J-08	1620283	153555958	1714602	283	90689											
CLCNKA	1187	broad.mit.edu	37	chr1	16349201	16349201	+	Frame_Shift_Del	DEL	C	C	-																															ggcccctgtccccacatccgCcgagccatccaaggtgagag																										TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:16349201delC	ENST00000375692.1	+	3	215	c.87delC	c.(85-87)cgfs	p.R30fs	CLCNKA_ENST00000439316.2_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000420078.1_Frame_Shift_Del_p.R30fs			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	30					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCACATCCGCCGAGCCATCC	0.662													2	4	---	---	---	---					-	16349201	C	-	16349201	7	5	468	1	0	1	0	1	0	0	0	0	3499	726	26	0	89	0	CLCNKA	1	16349201	Frame_Shift_Del	DEL	C	TCGA-P3-A6T6-01A-11D-A34J-08		16349201	232901420	1	90690											
COL16A1	1307	broad.mit.edu	37	chr1	32131522	32131522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttaccttggggtcctcgCtctcctctgggaccctgtca	4	12	11	14	1	3	0	1	0	2	0	6	2	4	1	4	3	1	2	4	3	1	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:32131522C>A	ENST00000373672.3	-	54	3933	c.3417G>T	c.(3415-3417)gaG>gaT	p.E1139D	COL16A1_ENST00000271069.6_Missense_Mutation_p.E1139D	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1139	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGGTCCTCGCTCTCCTCTGG	0.612													21	43					6.21321e-17	6.96179e-17	1	0	A	32131522	C	A	32131522	3	1	468	1	0	0	0	0	1	0	0	0	3703	796	28	4	1469	4	COL16A1	1	32131522	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	15782321	32131522	217119099	2	90691											
CSMD2	114784	broad.mit.edu	37	chr1	34035053	34035053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaccagtgtgtatccGgaattgcaggagaagatggc	11	7	14	9	1	0	2	0	0	0	2	1	5	1	3	3	3	2	2	3	3	3	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:34035053G>A	ENST00000373381.4	-	52	8228	c.8052C>T	c.(8050-8052)tcC>tcT	p.S2684S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2686	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGTGTATCCGGAATTGCAGG	0.582													19	49					0	0	0	0	A	34035053	G	A	34035053	2	1	468	1	0	0	0	0	0	0	0	1	3977	1103	39	1		1	CSMD2	1	34035053	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	1903531	34035053	215215568	3	90692											
MAP7D1	55700	broad.mit.edu	37	chr1	36643562	36643562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccagggccaggccacactCtgcctccaaagccaccgtcc	8	4	9	20	1	1	0	0	0	1	0	3	0	3	0	8	2	2	0	8	2	1	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:36643562C>G	ENST00000316156.4	+	8	1810	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V	MAP7D1_ENST00000373151.2_Missense_Mutation_p.L490V|MAP7D1_ENST00000373150.4_Missense_Mutation_p.L458V|MAP7D1_ENST00000373148.4_Missense_Mutation_p.L36V			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	490						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGCCACACTCTGCCTCCAAA	0.682													23	35					0	0	0	0	G	36643562	C	G	36643562	3	3	468	1	0	0	0	0	1	0	0	0	9336	912	32	2	1502	2	MAP7D1	1	36643562	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	2608509	36643562	212607059	4	90693											
NDUFS5	4725	broad.mit.edu	37	chr1	39500131	39500135	+	Frame_Shift_Del	DEL	CACCT	CACCT	-																															ggaaggaaagtacacccctcCacctcaccacattggcaagg																								rs1050978		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:39500131_39500135delCACCT	ENST00000372969.3	+	3	371_375	c.284_288delCACCT	c.(283-288)cfs	p.PP95fs	NDUFS5_ENST00000372967.3_Frame_Shift_Del_p.PP95fs	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	95					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	TACACCCCTCCACCTCACCACATTG	0.502													18	61	---	---	---	---					-	39500135	CACCT	-	39500131	7	5	468	1	0	1	0	1	0	0	0	0	10365	594	21	0	290	0	NDUFS5	1	39500131	Frame_Shift_Del	DEL	CACCT	TCGA-P3-A6T6-01A-11D-A34J-08	2856569	39500131	209750490	5	90694											
FAF1	11124	broad.mit.edu	37	chr1	51049377	51049377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctccttcattttctgcGttttctggcactaaaaaaca	10	15	5	11	1	4	0	1	0	3	0	5	0	4	0	1	1	2	3	1	1	3	6	rs140546895		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:51049377G>A	ENST00000396153.2	-	11	1429	c.978C>T	c.(976-978)aaC>aaT	p.N326N	FAF1_ENST00000371778.4_Silent_p.N326N|FAF1_ENST00000545823.1_Silent_p.N84N|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	326					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.N326N(1)|p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATTTTCTGCGTTTTCTGGCA	0.294													21	21					0	0	0	0	A	51049377	G	A	51049377	2	1	468	1	0	0	0	0	0	0	0	1	5410	1136	40	1		1	FAF1	1	51049377	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	11549246	51049377	198201244	6	90695											
IL12RB2	3595	broad.mit.edu	37	chr1	67855743	67855743	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctagcagccctcagacctCagtggtgtagcagagaaatt	11	9	10	11	0	2	2	2	0	0	2	3	3	3	2	3	1	3	3	3	1	3	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:67855743C>T	ENST00000262345.1	+	15	2618	c.1978C>T	c.(1978-1980)Cag>Tag	p.Q660*	IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000541374.1_Intron|IL12RB2_ENST00000371000.1_Intron|IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.Q574*	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	660					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCTCAGACCTCAGTGGTGTAG	0.463													24	51					0	0	0	0	T	67855743	C	T	67855743	4	4	468	1	0	0	0	0	0	1	0	0	7680	827	29	2	2032	2	IL12RB2	1	67855743	Nonsense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	16806366	67855743	181394878	7	90696											
COL11A1	1301	broad.mit.edu	37	chr1	103364278	103364278	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctttcctgcaggtccctGaggaccgactgggccggttt	5	10	14	12	2	0	1	0	1	0	0	2	3	2	2	4	5	1	3	4	5	0	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:103364278G>A	ENST00000358392.2	-	56	4545	c.4228C>T	c.(4228-4230)Cag>Tag	p.Q1410*	COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1398*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q1282*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1359*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1398	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCAGGTCCCTGAGGACCGACT	0.478													24	34					0	0	0	0	A	103364278	G	A	103364278	4	1	468	1	0	0	0	0	0	1	0	0	3697	1299	45	2	1276	2	COL11A1	1	103364278	Nonsense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	35508535	103364278	145886343	8	90697											
COL11A1	1301	broad.mit.edu	37	chr1	103431072	103431072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaccactccccctggcccagGagggccggtcttgccttgaa	7	7	11	16	1	1	1	0	1	1	0	2	2	2	2	6	4	2	0	6	4	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:103431072G>A	ENST00000358392.2	-	38	3240	c.2923C>T	c.(2923-2925)Cct>Tct	p.P975S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P963S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P847S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P924S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	963	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGCCCAGGAGGGCCGGTC	0.393													43	94					0	0	0	0	A	103431072	G	A	103431072	3	1	468	1	0	0	0	0	1	0	0	0	3697	1174	41	2	2653	2	COL11A1	1	103431072	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	66794	103431072	145819549	9	90698											
EPS8L3	79574	broad.mit.edu	37	chr1	110300656	110300656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccatgaacagctcaatgtCccttaggacatggttcagca	11	10	8	12	0	2	1	2	1	0	0	4	2	4	2	2	2	3	3	2	2	3	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:110300656C>A	ENST00000369805.3	-	9	974	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	EPS8L3_ENST00000361965.4_Missense_Mutation_p.D248Y|EPS8L3_ENST00000361852.4_Missense_Mutation_p.D248Y|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	248						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGCTCAATGTCCCTTAGGACA	0.562													36	68					2.05212e-20	2.3274e-20	1	0	A	110300656	C	A	110300656	3	1	468	1	0	0	0	0	1	0	0	0	5235	855	30	2	1083	2	EPS8L3	1	110300656	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	6869584	110300656	138949965	10	90699											
LRIG2	9860	broad.mit.edu	37	chr1	113653031	113653031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtggatactgagaattttGttcgttattggcagcaagct	10	14	11	6	2	0	1	0	1	0	1	1	3	0	2	0	2	3	5	0	2	4	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:113653031G>T	ENST00000361127.4	+	13	1843	c.1645G>T	c.(1645-1647)Gtt>Ttt	p.V549F	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	549	Ig-like C2-type 1.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGAGAATTTTGTTCGTTATTG	0.423													60	127					2.93687e-30	3.45733e-30	1	0	T	113653031	G	T	113653031	3	4	468	1	0	0	0	0	1	0	0	0	9009	1377	48	4	1695	4	LRIG2	1	113653031	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	3352375	113653031	135597590	11	90700											
SYT6	148281	broad.mit.edu	37	chr1	114680442	114680442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaagccttcaggataCgcacaatcagggtctcggtc	11	8	11	11	2	4	0	3	0	1	0	6	1	4	1	1	4	2	1	1	4	4	2	rs139165674	byFrequency	TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:114680442C>A	ENST00000393296.1	-	3	823	c.746G>T	c.(745-747)cGt>cTt	p.R249L	SYT6_ENST00000369547.1_Missense_Mutation_p.R164L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAGGATACGCACAATCAG	0.542													41	72					7.63091e-17	8.4991e-17	1	0	A	114680442	C	A	114680442	3	1	468	1	0	0	0	0	1	0	0	0	15569	536	19	3	806	3	SYT6	1	114680442	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	1027411	114680442	134570179	12	90701											
PDE4DIP	9659	broad.mit.edu	37	chr1	144921929	144921929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcatcagccagttggCgctctttctgtcgtaccacc	5	13	10	13	2	3	0	1	0	2	0	4	0	3	0	3	2	2	5	3	2	1	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:144921929C>T	ENST00000529945.1	-	5	2028	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R367H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R433H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R504H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R154H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R530H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R504H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	367					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCCAGTTGGCGCTCTTTCTG	0.478			T	PDGFRB	MPD								7	693					0	0	0	0	T	144921929	C	T	144921929	3	4	468	1	0	0	0	0	1	0	0	0	11714	768	27	1	6094	1	PDE4DIP	1	144921929	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	30241487	144921929	104328692	13	90702											
FLAD1	80308	broad.mit.edu	37	chr1	154965259	154965259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atactgtatcctgtatgaccGagggtaagggtattagggga	11	11	14	5	1	0	1	0	1	0	0	1	3	1	2	2	4	1	4	2	4	6	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:154965259G>A	ENST00000292180.3	+	6	1947	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	FLAD1_ENST00000368432.1_Missense_Mutation_p.R445Q|FLAD1_ENST00000368428.1_Missense_Mutation_p.R83Q|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.R445Q	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	542	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGTATGACCGAGGGTAAGGG	0.512													60	142					0	0	0	0	A	154965259	G	A	154965259	3	1	468	1	0	0	0	0	1	0	0	0	5965	1058	37	1	1787	1	FLAD1	1	154965259	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	10043330	154965259	94285362	14	90703											
YY1AP1	55249	broad.mit.edu	37	chr1	155629687	155629687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctatgttccactttggggaAaacagtagcagagagaggag	13	8	14	6	0	0	2	0	0	0	2	1	5	1	4	1	3	2	4	1	3	4	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:155629687A>G	ENST00000368340.5	-	10	2476	c.2368T>C	c.(2368-2370)Ttc>Ctc	p.F790L	YY1AP1_ENST00000295566.4_Missense_Mutation_p.F718L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F661L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F672L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F672L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F641L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F641L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.F661L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.F518L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F652L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F810L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.F672L	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTTTGGGGAAAACAGTAGCA	0.507													31	105					0	0	0	0	G	155629687	A	G	155629687	3	3	468	1	0	0	0	0	1	0	0	0	17604	14	1	5	242	5	YY1AP1	1	155629687	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	664428	155629687	93620934	15	90704											
ITLN1	55600	broad.mit.edu	37	chr1	160846552	160846552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatcaaaaccagaaaaatCtccacactgctggggactgg	15	6	8	12	0	2	1	1	0	1	1	3	2	2	2	3	3	2	1	3	3	5	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:160846552C>G	ENST00000326245.3	-	8	959	c.844G>C	c.(844-846)Gat>Cat	p.D282H		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	282					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAGAAAAATCTCCACACTGC	0.483													36	99					0	0	0	0	G	160846552	C	G	160846552	3	3	468	1	0	0	0	0	1	0	0	0	7963	913	32	2	101	2	ITLN1	1	160846552	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	5216865	160846552	88404069	16	90705											
ITLN2	142683	broad.mit.edu	37	chr1	160920399	160920399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagccagtgttggtgcGgtacctcagcagggcgctgt	7	8	17	9	2	1	0	1	0	0	0	1	2	1	1	2	4	4	4	2	4	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:160920399G>A	ENST00000368029.3	-	5	601	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	182	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGTTGGTGCGGTACCTCAGC	0.577													41	128					0	0	0	0	A	160920399	G	A	160920399	3	1	468	1	0	0	0	0	1	0	0	0	7964	1116	39	1	449	1	ITLN2	1	160920399	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	73847	160920399	88330222	17	90706											
KIAA1614	57710	broad.mit.edu	37	chr1	180904393	180904393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctcgccgtcgcacGtgcgctttgaggatgagtcc	4	8	15	14	5	0	2	0	2	0	0	3	3	1	3	4	3	1	2	4	3	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:180904393G>A	ENST00000367588.4	+	5	1403	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	KIAA1614_ENST00000367587.1_Missense_Mutation_p.V71M	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	450										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCGTCGCACGTGCGCTTTGA	0.701													4	9					0	0	0	0	A	180904393	G	A	180904393	3	1	468	1	0	0	0	0	1	0	0	0	8299	1145	40	1	1366	1	KIAA1614	1	180904393	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	19983994	180904393	68346228	18	90707											
SMG7	9887	broad.mit.edu	37	chr1	183513602	183513602	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatccccattcatcaccctGgagccttccctcctcttccc	5	12	3	21	0	4	0	3	0	1	0	8	1	8	1	7	1	1	0	7	1	0	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:183513602G>T	ENST00000367537.3	+	16	2101	c.1906G>T	c.(1906-1908)Gga>Tga	p.G636*	SMG7_ENST00000515829.2_Nonsense_Mutation_p.G607*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.G565*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.G607*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.G611*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.G653*			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	653					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCATCACCCTGGAGCCTTCCC	0.423													77	42					1.39921e-30	1.65766e-30	1	0	T	183513602	G	T	183513602	4	4	468	1	0	0	0	0	0	1	0	0	14886	1349	47	4	2015	4	SMG7	1	183513602	Nonsense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	2609209	183513602	65737019	19	90708											
PLEKHA6	22874	broad.mit.edu	37	chr1	204210863	204210863	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcttgcctggtgggcAcaaggctgatgtctctgggg	5	11	14	11	0	2	1	0	1	2	0	3	1	2	1	2	5	2	2	2	5	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:204210863A>C	ENST00000272203.3	-	16	2568	c.2252T>G	c.(2251-2253)gTg>gGg	p.V751G	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.V771G	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	751										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCTGGTGGGCACAAGGCTGAT	0.542													38	54					0	0	0	0	C	204210863	A	C	204210863	3	2	468	1	0	0	0	0	1	0	0	0	12132	159	6	5	922	5	PLEKHA6	1	204210863	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	20697261	204210863	45039758	20	90709											
KCNH1	3756	broad.mit.edu	37	chr1	211192213	211192213	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggcactaacctcatccAcgttctcaaaagcgttgatg	13	10	7	11	2	2	1	2	1	1	0	4	1	3	1	2	1	2	3	2	1	5	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:211192213A>T	ENST00000367007.4	-	6	1113	c.944T>A	c.(943-945)gTg>gAg	p.V315E	KCNH1_ENST00000271751.4_Missense_Mutation_p.V315E	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	315					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACCTCATCCACGTTCTCAAA	0.478													14	114					0	0	0	0	T	211192213	A	T	211192213	3	4	468	1	0	0	0	0	1	0	0	0	8084	159	6	5	2049	5	KCNH1	1	211192213	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	6981350	211192213	38058408	21	90710											
ACTN2	88	broad.mit.edu	37	chr1	236898965	236898965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacccctaaacccgatgaaaGagccatcatgacgtacgtct	13	7	7	14	3	2	3	1	2	1	1	2	4	2	3	4	0	3	1	4	0	4	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:236898965G>C	ENST00000366578.4	+	8	894	c.728G>C	c.(727-729)aGa>aCa	p.R243T	ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	243	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCCGATGAAAGAGCCATCATG	0.532													19	54					0	0	0	0	C	236898965	G	C	236898965	3	2	468	1	0	0	0	0	1	0	0	0	205	942	33	2	758	2	ACTN2	1	236898965	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	25706752	236898965	12351656	22	90711											
RYR2	6262	broad.mit.edu	37	chr1	237794734	237794734	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcctttctagggatattAtgaataacaaagtgttttac	12	17	7	5	0	1	1	0	1	1	0	2	2	2	2	1	1	2	1	1	1	7	8			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:237794734A>C	ENST00000366574.2	+	42	6765	c.6448A>C	c.(6448-6450)Atg>Ctg	p.M2150L	RYR2_ENST00000360064.6_Missense_Mutation_p.M2148L|RYR2_ENST00000542537.1_Missense_Mutation_p.M2134L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2150	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGGGATATTATGAATAACAA	0.413													4	16					0	0	0	0	C	237794734	A	C	237794734	3	2	468	1	0	0	0	0	1	0	0	0	13854	449	16	5	6614	5	RYR2	1	237794734	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	895769	237794734	11455887	23	90712											
KIF3C	3797	broad.mit.edu	37	chr2	26203812	26203812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccccagggagtcctggagCagccgggtcagcttggagtc	6	6	15	14	1	1	0	1	0	0	0	3	3	2	3	5	4	3	2	5	4	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:26203812C>T	ENST00000264712.3	-	1	1554	c.975G>A	c.(973-975)ctG>ctA	p.L325L	KIF3C_ENST00000405914.1_Silent_p.L325L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	325	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCCTGGAGCAGCCGGGTCA	0.597													18	54					0	0	0	0	T	26203812	C	T	26203812	2	4	468	1	0	0	0	0	0	0	0	1	8353	697	25	4		4	KIF3C	2	26203812	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08		26203812	216995561	24	90713											
FAM179A	165186	broad.mit.edu	37	chr2	29274948	29274948	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcagctcatacccttttCagctggattaaagatggatc	10	12	9	10	0	2	1	2	0	0	1	3	3	2	3	1	3	3	3	1	3	3	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:29274948C>T	ENST00000379558.4	+	20	3400	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Nonsense_Mutation_p.Q962*	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	1017							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCCTTTTCAGCTGGATTA	0.468													4	18					0	0	0	0	T	29274948	C	T	29274948	4	4	468	1	0	0	0	0	0	1	0	0	5546	827	29	2	3123	2	FAM179A	2	29274948	Nonsense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	3071136	29274948	213924425	25	90714											
HEATR5B	54497	broad.mit.edu	37	chr2	37229640	37229640	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttgcaaacacaagagatTttccaggaatgagaccaccg	15	8	9	9	1	0	2	0	1	0	2	1	5	1	3	3	1	2	2	3	1	4	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:37229640T>A	ENST00000233099.5	-	32	5221	c.5126A>T	c.(5125-5127)aAa>aTa	p.K1709I	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1709							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACAAGAGATTTTCCAGGAAT	0.443													33	69					0	0	0	0	A	37229640	T	A	37229640	3	1	468	1	0	0	0	0	1	0	0	0	7082	1841	64	5	1109	5	HEATR5B	2	37229640	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	7954692	37229640	205969733	26	90715											
PPM1B	5495	broad.mit.edu	37	chr2	44459467	44459467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgtagggtgctggagatCtagaagacccatggtagcct	9	10	13	9	0	1	3	0	0	1	3	2	4	2	3	3	3	2	3	3	3	4	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:44459467C>G	ENST00000378551.2	+	6	1559	c.1147C>G	c.(1147-1149)Cta>Gta	p.L383V	PPM1B_ENST00000378540.4_Intron	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	383					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCTGGAGATCTAGAAGACCC	0.333													31	72					0	0	0	0	G	44459467	C	G	44459467	3	3	468	1	0	0	0	0	1	0	0	0	12412	912	32	2	1508	2	PPM1B	2	44459467	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	7229827	44459467	198739906	27	90716											
PCBP1	5093	broad.mit.edu	37	chr2	70315482	70315482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggccaagatcggtgcagcGacgctgcgggctacccccat	7	5	14	15	5	0	1	0	0	0	1	1	2	0	1	3	3	4	3	3	3	2	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:70315482G>A	ENST00000303577.5	+	1	898	c.607G>A	c.(607-609)Gac>Aac	p.D203N	PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	203					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCGGTGCAGCGACGCTGCGGG	0.627													25	42					0	0	0	0	A	70315482	G	A	70315482	3	1	468	1	0	0	0	0	1	0	0	0	11571	1058	37	1	609	1	PCBP1	2	70315482	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	25856015	70315482	172883891	28	90717											
REG1B	5968	broad.mit.edu	37	chr2	79314704	79314704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagacaggaacatcagggagGagatcagcatgaagaacgag	17	3	15	6	1	2	4	2	1	0	3	2	9	2	6	0	3	3	1	0	3	3	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:79314704G>A	ENST00000305089.3	-	2	115	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	12					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CATCAGGGAGGAGATCAGCAT	0.488													5	13					0	0	0	0	A	79314704	G	A	79314704	3	1	468	1	0	0	0	0	1	0	0	0	13293	1174	41	2	485	2	REG1B	2	79314704	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	8999222	79314704	163884669	29	90718											
TUBA4A	7277	broad.mit.edu	37	chr2	220115611	220115611	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgactggtgcataggtGgccagggggaagtggatgcg	9	7	20	5	1	0	2	0	1	0	1	0	5	0	4	1	6	2	1	1	6	2	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:220115611G>T	ENST00000392088.2	-	4	1320	c.765C>A	c.(763-765)gcC>gcA	p.A255A	TUBA4A_ENST00000248437.4_Silent_p.A270A|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	270					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCATAGGTGGCCAGGGGGA	0.572													13	49					7.03913e-09	7.39705e-09	1	0	T	220115611	G	T	220115611	2	4	468	1	0	0	0	0	0	0	0	1	16845	1335	47	4		4	TUBA4A	2	220115611	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	140800907	220115611	23083762	30	90719											
GOLGA4	2803	broad.mit.edu	37	chr3	37368468	37368468	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagaaaaacttaagtcAgtggaaagttcacagtcaga	17	9	10	5	0	3	2	3	0	0	2	3	4	3	4	0	2	1	1	0	2	5	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:37368468A>T	ENST00000361924.2	+	14	5465	c.5091A>T	c.(5089-5091)tcA>tcT	p.S1697S	GOLGA4_ENST00000356847.4_Silent_p.S1719S|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1697	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACTTAAGTCAGTGGAAAGTT	0.378													65	107					0	0	0	0	T	37368468	A	T	37368468	2	4	468	1	0	0	0	0	0	0	0	1	6606	175	7	5		5	GOLGA4	3	37368468	Silent	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08		37368468	160653962	31	90720											
EXOG	9941	broad.mit.edu	37	chr3	38565632	38565632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccggaatatctgctctGtggacacctgtaagctcctg	9	12	9	11	1	2	0	0	0	2	0	4	2	4	2	3	2	2	3	3	2	4	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:38565632G>T	ENST00000287675.5	+	6	982	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Missense_Mutation_p.V246L	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	296						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TATCTGCTCTGTGGACACCTG	0.448													82	158					2.05912e-35	2.48699e-35	1	0	T	38565632	G	T	38565632	3	4	468	1	0	0	0	0	1	0	0	0	5349	1377	48	4	908	4	EXOG	3	38565632	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	1197164	38565632	159456798	32	90721											
SCN11A	11280	broad.mit.edu	37	chr3	38938649	38938649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttccaagggctccgacaGagttgccgattatcttaatt	9	12	10	10	2	1	1	0	0	1	1	3	3	3	1	3	2	1	3	3	2	3	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:38938649G>C	ENST00000302328.3	-	14	2288	c.2090C>G	c.(2089-2091)tCt>tGt	p.S697C	SCN11A_ENST00000456224.3_Missense_Mutation_p.S697C|SCN11A_ENST00000444237.2_Missense_Mutation_p.S697C|SCN11A_ENST00000450244.1_Missense_Mutation_p.S697C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	697					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGCTCCGACAGAGTTGCCGAT	0.433													31	38					0	0	0	0	C	38938649	G	C	38938649	3	2	468	1	0	0	0	0	1	0	0	0	14000	942	33	2	3337	2	SCN11A	3	38938649	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	373017	38938649	159083781	33	90722											
TTC21A	199223	broad.mit.edu	37	chr3	39167822	39167822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcttgaatcctgtagtcaAagcagcaccagctctgatcg	11	10	9	11	1	3	2	1	2	2	0	5	3	4	2	2	0	3	4	2	0	3	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:39167822A>G	ENST00000301819.6	+	12	1664	c.1487A>G	c.(1486-1488)aAa>aGa	p.K496R	TTC21A_ENST00000440121.1_Missense_Mutation_p.K447R|TTC21A_ENST00000431162.2_Missense_Mutation_p.K496R	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	496							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTGTAGTCAAAGCAGCACCA	0.567													6	76					0	0	0	0	G	39167822	A	G	39167822	3	3	468	1	0	0	0	0	1	0	0	0	16783	14	1	5	1533	5	TTC21A	3	39167822	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	229173	39167822	158854608	34	90723											
SETD2	29072	broad.mit.edu	37	chr3	47163179	47163179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtcctccttctcctctttCatctaaagagatttctggtc	7	17	5	12	0	5	1	1	0	4	1	9	2	7	1	3	1	0	0	3	1	2	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:47163179C>G	ENST00000409792.3	-	3	2989	c.2947G>C	c.(2947-2949)Gaa>Caa	p.E983Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.E983*(1)|p.E480*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCCTCTTTCATCTAAAGAG	0.393			"N, F, S, Mis"		clear cell renal carcinoma								5	116					0	0	0	0	G	47163179	C	G	47163179	3	3	468	1	0	0	0	0	1	0	0	0	14218	835	29	2	4823	2	SETD2	3	47163179	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	7995357	47163179	150859251	35	90724											
CACNA1D	776	broad.mit.edu	37	chr3	53756362	53756362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgacgctggcgtcgctggaaCcgattcaatcgcagaagatg	10	7	13	11	6	1	2	1	0	0	2	3	5	1	3	1	2	1	3	1	2	3	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:53756362C>A	ENST00000288139.3	+	13	1705	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	CACNA1D_ENST00000350061.5_Missense_Mutation_p.N509K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.N509K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	509					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTCGCTGGAACCGATTCAATC	0.448													35	87					2.05212e-20	2.3274e-20	1	0	A	53756362	C	A	53756362	3	1	468	1	0	0	0	0	1	0	0	0	2566	506	18	4	1745	4	CACNA1D	3	53756362	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	6593183	53756362	144266068	36	90725											
NCK1	4690	broad.mit.edu	37	chr3	136646895	136646895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgattatgtggcccaacaaGaacaagagttggacatcaag	15	9	10	7	0	1	3	1	1	0	2	1	4	1	4	1	2	2	1	1	2	6	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:136646895G>A	ENST00000481752.1	+	2	216	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	NCK1_ENST00000288986.2_Missense_Mutation_p.E18K			P16333	NCK1_HUMAN	NCK adaptor protein 1	18	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGCCCAACAAGAACAAGAGTT	0.388													38	54					0	0	0	0	A	136646895	G	A	136646895	3	1	468	1	0	0	0	0	1	0	0	0	10289	943	33	2	54	2	NCK1	3	136646895	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	82890533	136646895	61375535	37	90726											
CHST2	9435	broad.mit.edu	37	chr3	142840472	142840472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctaccgcaaggaggtcGtggggttggtggacgaccgc	6	6	17	12	5	0	0	0	0	0	0	1	3	0	2	4	6	1	2	4	6	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:142840472G>A	ENST00000309575.3	+	2	2198	c.814G>A	c.(814-816)Gtg>Atg	p.V272M		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	272					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAAGGAGGTCGTGGGGTTGGT	0.657													7	16					0	0	0	0	A	142840472	G	A	142840472	3	1	468	1	0	0	0	0	1	0	0	0	3433	1145	40	1	816	1	CHST2	3	142840472	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	6193577	142840472	55181958	38	90727											
AADAC	13	broad.mit.edu	37	chr3	151545711	151545711	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatccagggttcctagatgtGagggcagcccctttgttggc	6	12	13	10	0	0	2	0	1	0	1	2	2	2	2	4	3	1	3	4	3	2	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:151545711G>C	ENST00000232892.6	+	5	1077	c.951G>C	c.(949-951)gtG>gtC	p.V317V	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	317					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCCTAGATGTGAGGGCAGCCC	0.433													24	54					0	0	0	0	C	151545711	G	C	151545711	2	2	468	1	0	0	0	0	0	0	0	1	10	1277	45	2		2	AADAC	3	151545711	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	8705239	151545711	46476719	39	90728											
LEKR1	389170	broad.mit.edu	37	chr3	156763348	156763348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagactgaactctgaaaaaGgaatccaaattcccaacctg	17	7	6	11	0	1	3	0	2	1	1	3	4	3	4	3	1	2	0	3	1	7	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:156763348G>C	ENST00000470811.1	+	14	2311	c.976G>C	c.(976-978)Gga>Cga	p.G326R	LEKR1_ENST00000356539.4_Missense_Mutation_p.G630R			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTCTGAAAAAGGAATCCAAAT	0.532													37	61					0	0	0	0	C	156763348	G	C	156763348	3	2	468	1	0	0	0	0	1	0	0	0	8770	1001	35	4	1934	4	LEKR1	3	156763348	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	5217637	156763348	41259082	40	90729											
ZBBX	79740	broad.mit.edu	37	chr3	167031787	167031787	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattatctttataataagtAgagctgtttctcagacaaag	15	14	7	5	0	2	2	1	0	2	2	3	3	2	2	0	0	1	3	0	0	7	7			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:167031787A>G	ENST00000392766.2	-	16	1732	c.1392T>C	c.(1390-1392)tcT>tcC	p.S464S	ZBBX_ENST00000307529.5_Silent_p.S464S|ZBBX_ENST00000392764.1_Silent_p.S435S|ZBBX_ENST00000455345.2_Silent_p.S464S|ZBBX_ENST00000392767.2_Silent_p.S464S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	464						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATAATAAGTAGAGCTGTTTC	0.308													65	160					0	0	0	0	G	167031787	A	G	167031787	2	3	468	1	0	0	0	0	0	0	0	1	17612	407	15	5		5	ZBBX	3	167031787	Silent	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	10268439	167031787	30990643	41	90730											
LSG1	55341	broad.mit.edu	37	chr3	194390737	194390737	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcagcaataaacaacttaCcagctacaaactctgttcct	15	10	3	13	0	2	0	1	0	1	0	3	0	3	0	2	0	7	3	2	0	7	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:194390737C>T	ENST00000265245.5	-	2	541		c.e2+1			NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1						nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AAACAACTTACCAGCTACAAA	0.443													38	122					0	0	0	0	T	194390737	C	T	194390737	5	4	468	1	0	0	0	0	0	0	1	0	9113	521	18	4	1801	4	LSG1	3	194390737	Splice_Site	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	27358950	194390737	3631693	42	90731											
LRCH3	84859	broad.mit.edu	37	chr3	197566209	197566209	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggttcaccagtaaagccAgtagccattagggagtttca	12	10	11	8	0	2	0	2	0	0	0	2	1	2	1	3	2	2	4	3	2	5	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:197566209A>G	ENST00000438796.2	+	10	1313	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	LRCH3_ENST00000414675.2_Silent_p.P395P|LRCH3_ENST00000334859.4_Silent_p.P423P|LRCH3_ENST00000441090.2_Silent_p.P269P|LRCH3_ENST00000425562.2_Silent_p.P423P|LRCH3_ENST00000536618.1_Silent_p.P18P			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	423						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CAGTAAAGCCAGTAGCCATTA	0.328													30	51					0	0	0	0	G	197566209	A	G	197566209	2	3	468	1	0	0	0	0	0	0	0	1	8998	175	7	5		5	LRCH3	3	197566209	Silent	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	3175472	197566209	456221	43	90732											
TMEM175	84286	broad.mit.edu	37	chr4	941650	941650	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgctcagcttcagtgaCgccctgctgtccatcatcgc	6	10	9	16	3	3	1	3	1	0	0	5	1	4	1	2	0	3	4	2	0	0	1	rs34645349	byFrequency	TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:941650C>T	ENST00000264771.4	+	2	308	c.123C>T	c.(121-123)gaC>gaT	p.D41D	TMEM175_ENST00000515740.1_Intron|TMEM175_ENST00000508204.1_Intron	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	41						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTTCAGTGACGCCCTGCTGT	0.672													48	23					0	0	0	0	T	941650	C	T	941650	2	4	468	1	0	0	0	0	0	0	0	1	16185	535	19	1		1	TMEM175	4	941650	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08		941650	190212626	44	90733											
CHRNA9	55584	broad.mit.edu	37	chr4	40356180	40356180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaagctgcctcagcccGcaccacagtagagagcggga	11	4	14	12	2	1	2	1	1	0	1	1	4	1	3	3	2	4	3	3	2	2	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:40356180G>A	ENST00000310169.2	+	5	1222	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	361					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GCCTCAGCCCGCACCACAGTA	0.547													4	137					0	0	0	0	A	40356180	G	A	40356180	2	1	468	1	0	0	0	0	0	0	0	1	3418	1074	38	1		1	CHRNA9	4	40356180	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	39414530	40356180	150798096	45	90734											
GNRHR	2798	broad.mit.edu	37	chr4	68619925	68619925	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagagcagaaaaaggaaGaaagtaaccgtcactcggat	18	4	12	7	2	1	3	1	0	0	3	2	6	1	5	1	2	2	3	1	2	5	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:68619925G>A	ENST00000226413.4	-	1	153	c.129C>T	c.(127-129)ttC>ttT	p.F43F	RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.F43F	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	43					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GAAAAAGGAAGAAAGTAACCG	0.443													31	72					0	0	0	0	A	68619925	G	A	68619925	2	1	468	1	0	0	0	0	0	0	0	1	6600	933	33	2		2	GNRHR	4	68619925	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	28263745	68619925	122534351	46	90735											
UGT2B15	7366	broad.mit.edu	37	chr4	69520826	69520826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttaccaagaaggtcattCtggggtaaccacttgtacag	12	11	9	9	0	3	1	1	0	2	1	3	1	3	1	2	3	3	2	2	3	5	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:69520826C>G	ENST00000338206.5	-	4	1089	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	360					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GAAGGTCATTCTGGGGTAACC	0.358													97	213					0	0	0	0	G	69520826	C	G	69520826	3	3	468	1	0	0	0	0	1	0	0	0	17054	912	32	2	2141	2	UGT2B15	4	69520826	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	900901	69520826	121633450	47	90736											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916451	86916451	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaccttgatgacaagcaGagcattgacagtgctacctg	13	9	10	9	0	0	5	0	4	0	1	0	5	0	5	2	0	5	3	2	0	3	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:86916451G>C	ENST00000395184.1	+	9	2110	c.1644G>C	c.(1642-1644)caG>caC	p.Q548H	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.Q453H|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.Q455H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	548					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ATGACAAGCAGAGCATTGACA	0.502													30	59					0	0	0	0	C	86916451	G	C	86916451	3	2	468	1	0	0	0	0	1	0	0	0	875	933	33	2	1790	2	ARHGAP24	4	86916451	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	17395625	86916451	104237825	48	90737											
CTNNA1	1495	broad.mit.edu	37	chr5	138221913	138221913	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatccaggctggacgtaaaGaaagaagtgatgcactcaat	15	9	10	7	1	1	3	1	1	0	2	2	4	2	4	1	2	1	3	1	2	6	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr5:138221913G>C	ENST00000302763.7	+	8	1165	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.E359Q|CTNNA1_ENST00000355078.5_Missense_Mutation_p.E256Q|CTNNA1_ENST00000540387.1_5'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	359	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGACGTAAAGAAAGAAGTGA	0.378													36	33					0	0	0	0	C	138221913	G	C	138221913	3	2	468	1	0	0	0	0	1	0	0	0	4044	943	33	2	1101	2	CTNNA1	5	138221913	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08		138221913	42693347	49	90738											
ARSI	340075	broad.mit.edu	37	chr5	149677735	149677735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgcccatggtgcggtagCggtacaggtactcacgaggg	8	8	15	10	3	1	0	1	0	0	0	1	1	1	0	1	5	5	3	1	5	3	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr5:149677735C>T	ENST00000328668.7	-	2	1331	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	251						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGCGGTAGCGGTACAGGTA	0.627													14	46					0	0	0	0	T	149677735	C	T	149677735	3	4	468	1	0	0	0	0	1	0	0	0	998	768	27	1	961	1	ARSI	5	149677735	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	11455822	149677735	31237525	50	90739											
NSD1	64324	broad.mit.edu	37	chr5	176675230	176675230	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccccaaggagactgttGaggaaggtgtagaacacgat	14	6	13	8	1	0	3	0	1	0	2	0	6	0	4	2	3	2	2	2	3	5	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr5:176675230G>T	ENST00000439151.2	+	11	4591	c.4546G>T	c.(4546-4548)Gag>Tag	p.E1516*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1247*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1247*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1413*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1516					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAGACTGTTGAGGAAGGTGT	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			22	13					7.45023e-12	7.96403e-12	1	0	T	176675230	G	T	176675230	4	4	468	1	0	0	0	0	0	1	0	0	10740	1291	45	2	4584	2	NSD1	5	176675230	Nonsense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	26997495	176675230	4240030	51	90740											
CDKAL1	54901	broad.mit.edu	37	chr6	21000492	21000492	+	Missense_Mutation	SNP	A	A	C																															ccttaatcaccccagagtctAcgcttttctgcacataccag																										TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:21000492A>C	ENST00000274695.4	+	11	1111	c.944A>C	c.(943-945)tAc>tCc	p.Y315S	CDKAL1_ENST00000378610.1_Missense_Mutation_p.Y315S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.Y245S	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	315					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CCCAGAGTCTACGCTTTTCTG	0.393													52	136					0	0	0	0	C	21000492	A	C	21000492	3	2	468	1	0	0	0	0	1	0	0	0	3181	391	14	5	978	5	CDKAL1	6	21000492	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08		21000492	150114575	52	90741	1112	2									
CDKAL1	54901	broad.mit.edu	37	chr6	21000493	21000493	+	Silent	SNP	C	C	T																															cttaatcaccccagagtctaCgcttttctgcacataccagt																										TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:21000493C>T	ENST00000274695.4	+	11	1112	c.945C>T	c.(943-945)taC>taT	p.Y315Y	CDKAL1_ENST00000378610.1_Silent_p.Y315Y|CDKAL1_ENST00000378624.4_Silent_p.Y245Y	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	315					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CCAGAGTCTACGCTTTTCTGC	0.393													54	136					0	0	0	0	T	21000493	C	T	21000493	2	4	468	1	0	0	0	0	0	0	0	1	3181	547	19	1		1	CDKAL1	6	21000493	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	1	21000493	150114574	53	90742	1112	2									
GPX6	257202	broad.mit.edu	37	chr6	28474185	28474185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaccaaaattcttcagcTcctcctgtagtgcattcagt	10	13	6	12	0	3	1	2	1	1	0	5	1	5	1	3	0	2	3	3	0	3	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:28474185T>A	ENST00000361902.1	-	3	312	c.263A>T	c.(262-264)gAg>gTg	p.E88V	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000474923.1_Missense_Mutation_p.E88V	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	88					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ATTCTTCAGCTCCTCCTGTAG	0.458													24	59					0	0	0	0	A	28474185	T	A	28474185	3	1	468	1	0	0	0	0	1	0	0	0	6794	1551	54	5	414	5	GPX6	6	28474185	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	7473692	28474185	142640882	54	90743											
HLA-C	3107	broad.mit.edu	37	chr6	31238976	31238976	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacttgcgctgggtgatctGagccgcggtgtccgcggcgg	4	8	17	12	6	1	2	0	2	1	0	2	2	2	2	2	4	3	1	2	4	1	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:31238976G>A	ENST00000383329.3	-	3	507	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	HLA-C_ENST00000376228.5_Nonsense_Mutation_p.Q165*			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	165	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TGGGTGATCTGAGCCGCGGTG	0.677													10	38					0	0	0	0	A	31238976	G	A	31238976	4	1	468	1	0	0	0	0	0	1	0	0	7247	1299	45	2	631	2	HLA-C	6	31238976	Nonsense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	2764791	31238976	139876091	55	90744											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975720	42975720	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcgagagcgggacttcctCaagaccattttgcatcgcat	9	10	9	13	3	1	2	1	0	0	2	4	4	2	3	3	1	2	2	3	1	1	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:42975720C>G	ENST00000485511.1	+	7	953	c.774C>G	c.(772-774)ctC>ctG	p.L258L	PPP2R5D_ENST00000461010.1_Silent_p.L152L|PPP2R5D_ENST00000472118.1_Silent_p.L250L|PPP2R5D_ENST00000394110.3_Silent_p.L226L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	258					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGACTTCCTCAAGACCATTT	0.552													45	94					0	0	0	0	G	42975720	C	G	42975720	2	3	468	1	0	0	0	0	0	0	0	1	12471	813	29	2		2	PPP2R5D	6	42975720	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	11736744	42975720	128139347	56	90745											
CRISP1	167	broad.mit.edu	37	chr6	49819806	49819806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacatttggcaagtcggTgacgagcttattaaattggt	10	15	11	5	2	0	1	0	1	0	0	1	2	0	1	0	3	2	3	0	3	5	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:49819806T>A	ENST00000335847.4	-	3	204	c.103A>T	c.(103-105)Acc>Tcc	p.T35S	CRISP1_ENST00000329411.5_Missense_Mutation_p.T35S|CRISP1_ENST00000536021.1_Missense_Mutation_p.T35S|CRISP1_ENST00000505118.1_Missense_Mutation_p.T35S|CRISP1_ENST00000355791.2_Missense_Mutation_p.T35S|CRISP1_ENST00000507853.1_Missense_Mutation_p.T35S	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	35					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCAAGTCGGTGACGAGCTTA	0.373													42	103					0	0	0	0	A	49819806	T	A	49819806	3	1	468	1	0	0	0	0	1	0	0	0	3909	1696	59	5	670	5	CRISP1	6	49819806	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	6844086	49819806	121295261	57	90746											
FUCA2	2519	broad.mit.edu	37	chr6	143823693	143823693	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcattggtgactactgtgccCcgaactgggctgaaatgaaa	11	10	11	9	1	1	3	1	3	0	0	1	4	1	3	2	2	3	1	2	2	4	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:143823693C>A	ENST00000002165.5	-	4	817	c.762G>T	c.(760-762)cgG>cgT	p.R254R	FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	254					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTACTGTGCCCCGAACTGGGC	0.383													33	16					4.11147e-13	4.42043e-13	1	0	A	143823693	C	A	143823693	2	1	468	1	0	0	0	0	0	0	0	1	6143	610	22	4		4	FUCA2	6	143823693	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	94003887	143823693	27291374	58	90747											
CARD11	84433	broad.mit.edu	37	chr7	2954870	2954873	+	Splice_Site	DEL	CCTT	CCTT	-																															ggccaggcggtccccatgtaCcttcctgcttctcagtcaag																										TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:2954870_2954873delCCTT	ENST00000396946.4	-	21	3240_3243	c.2839_splice	c.e21+1	p.946_splice		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	946					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCCATGTACCTTCCTGCTTCTC	0.637			Mis		DLBCL								27	54	---	---	---	---					-	2954873	CCTT	-	2954870	8	5	468	1	0	1	0	1	0	0	1	0	2670	521	18	0	644	0	CARD11	7	2954870	Splice_Site	DEL	CCTT	TCGA-P3-A6T6-01A-11D-A34J-08		2954870	156183793	59	90748											
MIOS	54468	broad.mit.edu	37	chr7	7635887	7635887	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcatttgttttgtaGgtttttgtgagttgcaattt	5	25	8	3	0	2	1	1	1	1	0	2	1	2	1	0	1	1	5	0	1	2	10			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:7635887G>C	ENST00000340080.4	+	11	2617		c.e11-1		MIOS_ENST00000405785.1_Splice_Site	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)											breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTTTGTAGGTTTTTGTGA	0.353													45	55					0	0	0	0	C	7635887	G	C	7635887	5	2	468	1	0	0	0	0	0	0	1	0	9658	1014	35	4	2226	4	MIOS	7	7635887	Splice_Site	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	4681017	7635887	151502776	60	90749											
GPNMB	10457	broad.mit.edu	37	chr7	23306136	23306136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttatgattcaaacaccccagGacctgctggtgacaaccccc	11	8	7	15	0	1	2	1	2	0	0	1	3	1	3	5	2	3	1	5	2	3	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:23306136G>C	ENST00000381990.2	+	7	1216	c.1055G>C	c.(1054-1056)gGa>gCa	p.G352A	GPNMB_ENST00000539136.1_Splice_Site_p.G241_splice|GPNMB_ENST00000258733.4_Splice_Site_p.G340_splice|GPNMB_ENST00000453162.2_Missense_Mutation_p.G294A	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	352					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AACACCCCAGGACCTGCTGGT	0.388													24	94					0	0	0	0	C	23306136	G	C	23306136	3	2	468	1	0	0	0	0	1	0	0	0	6669	1188	41	2	1081	2	GPNMB	7	23306136	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	15670249	23306136	135832527	61	90750											
WBSCR16	81554	broad.mit.edu	37	chr7	74470029	74470029	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgcagcaaagtggcTgagtccacatcggatgcggg	9	7	16	9	2	1	1	1	1	0	0	3	2	2	2	1	4	3	3	1	4	1	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:74470029T>A	ENST00000503250.2	-	9	1279	c.1210A>T	c.(1210-1212)Agc>Tgc	p.S404C	WBSCR16_ENST00000329959.4_Missense_Mutation_p.S404C			Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	404										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCAAAGTGGCTGAGTCCACAT	0.557													4	168					0	0	0	0	A	74470029	T	A	74470029	3	1	468	1	0	0	0	0	1	0	0	0	17359	1580	55	5	196	5	WBSCR16	7	74470029	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	51163893	74470029	84668634	62	90751											
SLC12A9	56996	broad.mit.edu	37	chr7	100459413	100459413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcacgtgaagttctggCggccccagctgctgctcctg	6	9	13	13	2	2	1	1	1	1	0	3	2	3	2	3	3	3	4	3	3	1	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:100459413C>T	ENST00000354161.3	+	12	1716	c.1591C>T	c.(1591-1593)Cgg>Tgg	p.R531W	SLC12A9_ENST00000415287.1_Missense_Mutation_p.R442W|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R531W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R442W|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R531W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	531						integral to membrane|plasma membrane	cation:chloride symporter activity			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)					GAAGTTCTGGCGGCCCCAGCT	0.632													4	126					0	0	0	0	T	100459413	C	T	100459413	3	4	468	1	0	0	0	0	1	0	0	0	14478	759	27	1	1633	1	SLC12A9	7	100459413	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	25989384	100459413	58679250	63	90752											
SSPO	23145	broad.mit.edu	37	chr7	149523244	149523244	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcagcctggagcagttgctCggccccctgtggtgggggca	4	8	17	12	1	1	0	1	0	0	0	2	1	1	1	3	5	3	4	3	5	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:149523244C>T	ENST00000378016.2	+	0	14330							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCAGTTGCTCGGCCCCCTGT	0.647													53	57					0	0	0	0	T	149523244	C	T	149523244	1	4	468	0	1	0	0	0	0	0	0	0	15279	893	31	1		1	SSPO	7	149523244	RNA	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	49063831	149523244	9615419	64	90753											
GIMAP6	474344	broad.mit.edu	37	chr7	150325463	150325463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgggaggtcttggtcaCgggtctggtgctgagtttag	4	14	16	7	1	4	1	1	1	3	0	5	2	4	2	0	5	1	2	0	5	1	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:150325463C>T	ENST00000328902.5	-	3	439	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	75							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCTTGGTCACGGGTCTGGTG	0.577													112	139					0	0	0	0	T	150325463	C	T	150325463	3	4	468	1	0	0	0	0	1	0	0	0	6434	536	19	1	659	1	GIMAP6	7	150325463	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	802219	150325463	8813200	65	90754											
UNC5D	137970	broad.mit.edu	37	chr8	35402012	35402012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatgtctgtgctgggaCttccgggttcctgttggact	4	14	14	9	1	1	1	0	1	1	0	3	3	3	3	2	3	1	3	2	3	0	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:35402012C>A	ENST00000453357.2	+	1	103	c.47C>A	c.(46-48)aCt>aAt	p.T16N	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity	p.T16S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGTGCTGGGACTTCCGGGTTC	0.423													27	40					9.39395e-14	1.01586e-13	1	0	A	35402012	C	A	35402012	3	1	468	1	0	0	0	0	1	0	0	0	17091	580	20	4		4	UNC5D	8	35402012	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08		35402012	110962010	66	90755											
TMEM68	137695	broad.mit.edu	37	chr8	56652716	56652716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacgttctaacaaagcaCtcataatgtttcctggtatt	14	13	6	8	1	2	0	1	0	1	0	3	1	3	0	1	1	3	4	1	1	6	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:56652716C>G	ENST00000434581.2	-	8	1149	c.950G>C	c.(949-951)aGt>aCt	p.S317T	TMEM68_ENST00000519784.1_Missense_Mutation_p.S136T|TMEM68_ENST00000334667.2_Missense_Mutation_p.S250T			Q96MH6	TMM68_HUMAN	transmembrane protein 68	317						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAACAAAGCACTCATAATGTT	0.308													4	142					0	0	0	0	G	56652716	C	G	56652716	3	3	468	1	0	0	0	0	1	0	0	0	16291	565	20	4	28	4	TMEM68	8	56652716	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	21250704	56652716	89711306	67	90756											
NSMAF	8439	broad.mit.edu	37	chr8	59514673	59514673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactggcttactgagatcccGgaaggttcctggatttgaca	9	12	11	9	1	0	2	0	2	0	1	2	5	2	4	2	4	2	2	2	4	3	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:59514673G>A	ENST00000038176.3	-	14	1281	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	NSMAF_ENST00000427130.2_Missense_Mutation_p.R388W|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	357	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTGAGATCCCGGAAGGTTCCT	0.383													12	115					0	0	0	0	A	59514673	G	A	59514673	3	1	468	1	0	0	0	0	1	0	0	0	10745	1115	39	1	1756	1	NSMAF	8	59514673	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	2861957	59514673	86849349	68	90757											
ADHFE1	137872	broad.mit.edu	37	chr8	67357628	67357628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggaaagcctgtgtctgtgCctcttaagcctctgattgca	8	12	11	10	0	3	1	0	1	3	0	3	2	3	2	3	1	4	1	3	1	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:67357628C>T	ENST00000396623.3	+	6	560	c.529C>T	c.(529-531)Cct>Tct	p.P177S	ADHFE1_ENST00000415254.1_Missense_Mutation_p.P129S|ADHFE1_ENST00000379385.4_Missense_Mutation_p.P177S|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	177					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGTGTCTGTGCCTCTTAAGCC	0.423													51	120					0	0	0	0	T	67357628	C	T	67357628	3	4	468	1	0	0	0	0	1	0	0	0	314	739	26	4	551	4	ADHFE1	8	67357628	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	7842955	67357628	79006394	69	90758											
E2F5	1875	broad.mit.edu	37	chr8	86126067	86126067	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataacgaaggagtttgtgaTctgtttgatgtccagatact	11	14	11	5	1	1	3	0	2	1	1	2	6	2	4	1	1	2	2	1	1	3	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:86126067T>G	ENST00000418930.2	+	8	1204	c.1008T>G	c.(1006-1008)gaT>gaG	p.D336E	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.D176E|E2F5_ENST00000416274.2_Missense_Mutation_p.D337E|E2F5_ENST00000521429.1_Missense_Mutation_p.D164E|E2F5_ENST00000256117.5_Missense_Mutation_p.D338E			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	337	RBL2 association (Potential).|Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GAGTTTGTGATCTGTTTGATG	0.348													16	38					0	0	0	0	G	86126067	T	G	86126067	3	3	468	1	0	0	0	0	1	0	0	0	4906	1432	50	5	1041	5	E2F5	8	86126067	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	18768439	86126067	60237955	70	90759											
RIPK2	8767	broad.mit.edu	37	chr8	90777641	90777641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattgcccttggtgtaaatTacctgcacaatatgactcct	12	13	6	10	0	0	1	0	1	0	0	1	1	1	1	3	1	3	2	3	1	6	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:90777641T>C	ENST00000220751.4	+	3	714	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	RIPK2_ENST00000540020.1_5'UTR	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	134	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|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	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGGTGTAAATTACCTGCACAA	0.328													58	102					0	0	0	0	C	90777641	T	C	90777641	3	2	468	1	0	0	0	0	1	0	0	0	13466	1754	61	5	410	5	RIPK2	8	90777641	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	4651574	90777641	55586381	71	90760											
MTERFD1	51001	broad.mit.edu	37	chr8	97269221	97269221	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttctgcagagtctcagaAtgatccacatagtctcgaag	13	10	8	10	1	3	3	1	1	3	2	6	4	4	3	1	0	2	1	1	0	4	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:97269221A>G	ENST00000523821.1	-	3	575	c.456T>C	c.(454-456)caT>caC	p.H152H	MTERFD1_ENST00000522822.1_Silent_p.H31H|MTERFD1_ENST00000287025.3_Silent_p.H152H|MTERFD1_ENST00000524341.1_5'UTR			Q96E29	MTER1_HUMAN	MTERF domain containing 1	152					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GAGTCTCAGAATGATCCACAT	0.378													33	44					0	0	0	0	G	97269221	A	G	97269221	2	3	468	1	0	0	0	0	0	0	0	1	9989	98	4	5		5	MTERFD1	8	97269221	Silent	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	6491580	97269221	49094801	72	90761											
LRRC6	23639	broad.mit.edu	37	chr8	133623563	133623563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgatcattactcgcaCgtaagttggttgcacatcaa	10	14	7	10	2	2	1	2	1	0	0	4	1	3	1	1	1	2	5	1	1	3	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:133623563C>T	ENST00000519595.1	-	9	1119	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	LRRC6_ENST00000250173.1_Missense_Mutation_p.V341M|LRRC6_ENST00000518642.1_Missense_Mutation_p.V341M			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	341	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATTACTCGCACGTAAGTTGGT	0.318													61	41					0	0	0	0	T	133623563	C	T	133623563	3	4	468	1	0	0	0	0	1	0	0	0	9080	536	19	1	395	1	LRRC6	8	133623563	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	36354342	133623563	12740459	73	90762											
C8orf33	65265	broad.mit.edu	37	chr8	146278031	146278031	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgggtactccctgcgcGtcccgcggagcccggcttcc	2	6	14	19	6	0	0	0	0	0	0	3	1	3	1	5	4	3	2	5	4	1	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:146278031G>T	ENST00000331434.6	+	2	180	c.66G>T	c.(64-66)gcG>gcT	p.A22A		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	22										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CTCCCTGCGCGTCCCGCGGAG	0.687													88	38					7.63117e-38	9.27711e-38	1	0	T	146278031	G	T	146278031	2	4	468	1	0	0	0	0	0	0	0	1	2445	1132	40	3		3	C8orf33	8	146278031	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	12654468	146278031	85991	74	90763											
DIRAS2	54769	broad.mit.edu	37	chr9	93375708	93375708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggccaaggcctccgcctcGctgctctgcacctcgcggct	3	7	12	19	5	1	0	0	0	1	0	4	0	2	0	5	3	2	4	5	3	1	0	rs76821927		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr9:93375708G>A	ENST00000375765.3	-	2	790	c.402C>T	c.(400-402)agC>agT	p.S134S		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	134					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CCTCCGCCTCGCTGCTCTGCA	0.582													36	51					0	0	0	0	A	93375708	G	A	93375708	2	1	468	1	0	0	0	0	0	0	0	1	4568	1078	38	1		1	DIRAS2	9	93375708	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08		93375708	47837723	75	90764											
RGS3	5998	broad.mit.edu	37	chr9	116356598	116356598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcgcaacgggaacctgcaGaggcgacacacgatgaagga	14	3	13	11	4	0	2	0	1	0	1	1	6	0	4	1	3	3	2	1	3	3	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr9:116356598G>A	ENST00000462403.1	+	1	833	c.399G>A	c.(397-399)caG>caA	p.Q133Q	RGS3_ENST00000374140.2_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000394646.3_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1020					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAACCTGCAGAGGCGACACA	0.622													21	54					0	0	0	0	A	116356598	G	A	116356598	2	1	468	1	0	0	0	0	0	0	0	1	13389	933	33	2		2	RGS3	9	116356598	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	22980890	116356598	24856833	76	90765											
GPR107	57720	broad.mit.edu	37	chr9	132862907	132862907	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcagttgtttgatttcaGattgactaccactacatctc	11	15	6	9	0	2	3	1	2	1	1	3	3	2	3	1	0	3	3	1	0	3	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr9:132862907G>A	ENST00000372406.1	+	11	1446		c.e11-1		GPR107_ENST00000372410.3_Splice_Site|GPR107_ENST00000347136.6_Splice_Site	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTTGATTTCAGATTGACTACC	0.408													61	109					0	0	0	0	A	132862907	G	A	132862907	5	1	468	1	0	0	0	0	0	0	1	0	6672	956	33	2	981	2	GPR107	9	132862907	Splice_Site	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	16506309	132862907	8350524	77	90766											
CACNA1B	774	broad.mit.edu	37	chr9	140990941	140990941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcctgtcctgcagatgttGaacctctttgtggctgtgat	5	16	10	10	0	1	3	0	2	1	1	3	3	3	3	3	1	2	3	3	1	1	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr9:140990941G>C	ENST00000277549.5	+	37	5251	c.2682G>C	c.(2680-2682)ttG>ttC	p.L894F	CACNA1B_ENST00000371365.2_Missense_Mutation_p.L64F|CACNA1B_ENST00000371372.1_Missense_Mutation_p.L1700F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1701F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1699F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1698F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1700F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1700					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGCAGATGTTGAACCTCTTTG	0.572													25	68					0	0	0	0	C	140990941	G	C	140990941	3	2	468	1	0	0	0	0	1	0	0	0	2564	1281	45	2	5242	2	CACNA1B	9	140990941	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	8128034	140990941	222490	78	90767											
SFMBT2	57713	broad.mit.edu	37	chr10	7214103	7214103	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtccatggcgtcagcGtcctcctcttcactttcctg	4	14	7	16	3	4	0	3	0	1	0	9	0	8	0	4	1	1	0	4	1	0	2	rs149003494		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:7214103G>A	ENST00000361972.4	-	19	2259	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	SFMBT2_ENST00000397167.1_Silent_p.D723D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	723					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGCGTCAGCGTCCTCCTCTT	0.682													7	26					0	0	0	0	A	7214103	G	A	7214103	2	1	468	1	0	0	0	0	0	0	0	1	14245	1136	40	1		1	SFMBT2	10	7214103	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08		7214103	128320644	79	90768											
NMT2	9397	broad.mit.edu	37	chr10	15183456	15183456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattttaatctcctgggaatCagatgccgagtctgacttgg	10	13	10	8	1	3	2	1	1	2	1	4	4	3	3	2	2	1	0	2	2	3	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:15183456C>G	ENST00000378165.4	-	2	291	c.211G>C	c.(211-213)Gat>Cat	p.D71H	NMT2_ENST00000378150.1_Silent_p.L43L|NMT2_ENST00000535341.1_Silent_p.L43L|NMT2_ENST00000540259.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	71					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TCCTGGGAATCAGATGCCGAG	0.433													18	49					0	0	0	0	G	15183456	C	G	15183456	3	3	468	1	0	0	0	0	1	0	0	0	10574	826	29	2	1329	2	NMT2	10	15183456	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	7969353	15183456	120351291	80	90769											
ARMC4	55130	broad.mit.edu	37	chr10	28233203	28233203	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgccgtgctcttttaaacTtggcaacattcgcgatagtc	8	12	8	13	4	1	0	0	0	1	0	3	1	1	0	2	1	3	2	2	1	4	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:28233203T>A	ENST00000305242.5	-	12	1783	c.1691A>T	c.(1690-1692)aAg>aTg	p.K564M	ARMC4_ENST00000537576.1_Missense_Mutation_p.K256M|ARMC4_ENST00000545014.1_Missense_Mutation_p.K89M	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	564							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTTTTAAACTTGGCAACATT	0.498													20	31					0	0	0	0	A	28233203	T	A	28233203	3	1	468	1	0	0	0	0	1	0	0	0	957	1609	56	5	1479	5	ARMC4	10	28233203	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	13049747	28233203	107301544	81	90770											
RASSF4	83937	broad.mit.edu	37	chr10	45480359	45480359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagtgccgcgcccccggtGaggcccagcgcatccggcga	6	3	14	18	6	0	1	0	1	0	0	1	2	1	1	6	3	2	1	6	3	1	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:45480359G>A	ENST00000334940.6	+	6	633	c.499G>A	c.(499-501)Gag>Aag	p.E167K	RASSF4_ENST00000374417.2_Silent_p.*127*|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000340258.4_Missense_Mutation_p.E158K			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	158					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGCCCCCGGTGAGGCCCAGCG	0.672													54	101					0	0	0	0	A	45480359	G	A	45480359	3	1	468	1	0	0	0	0	1	0	0	0	13170	1291	45	2	490	2	RASSF4	10	45480359	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	17247156	45480359	90054388	82	90771											
ANAPC16	119504	broad.mit.edu	37	chr10	73983758	73983758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcagtgtctcagaccttgCcccaccacggaaagcccttt	8	11	7	15	1	2	1	2	0	1	1	3	2	2	2	5	1	2	0	5	1	1	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:73983758C>T	ENST00000299381.4	+	2	204	c.86C>T	c.(85-87)gCc>gTc	p.A29V	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	29					cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm				large_intestine(1)|ovary(1)	2						TCAGACCTTGCCCCACCACGG	0.493													4	117					0	0	0	0	T	73983758	C	T	73983758	3	4	468	1	0	0	0	0	1	0	0	0	602	739	26	4	88	4	ANAPC16	10	73983758	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	28503399	73983758	61550989	83	90772											
FAS	355	broad.mit.edu	37	chr10	90774046	90774046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcttcgtaattggcatCaacttcatggaaagaaagaa	16	10	8	7	1	2	2	2	0	0	2	3	3	2	3	0	2	3	3	0	2	6	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:90774046C>A	ENST00000355740.2	+	9	1067	c.847C>A	c.(847-849)Caa>Aaa	p.Q283K	FAS_ENST00000352159.4_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.Q262K|FAS_ENST00000355279.2_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	283	Death.|Interaction with HIPK3 (By similarity).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TAATTGGCATCAACTTCATGG	0.368													22	80					2.27731e-05	2.31464e-05	1	0	A	90774046	C	A	90774046	3	1	468	1	0	0	0	0	1	0	0	0	5726	827	29	2	881	2	FAS	10	90774046	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	16790288	90774046	44760701	84	90773											
TAF5	6877	broad.mit.edu	37	chr10	105127982	105127982	+	Frame_Shift_Del	DEL	C	C	-																															cgctgccccggcgggggcggCcccggtgcccgccgctgctc																										TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:105127982delC	ENST00000369839.3	+	1	259	c.236delC	c.(235-237)gcfs	p.A79fs	TAF5_ENST00000351396.4_Frame_Shift_Del_p.A79fs	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	79					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		gcgggggcggccccggtgccc	0.756													2	4	---	---	---	---					-	105127982	C	-	105127982	7	5	468	1	0	1	0	1	0	0	0	0	15619	739	26	0	238	0	TAF5	10	105127982	Frame_Shift_Del	DEL	C	TCGA-P3-A6T6-01A-11D-A34J-08	14353936	105127982	30406765	85	90774											
SLK	9748	broad.mit.edu	37	chr10	105765747	105765747	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcaatagcaaactacAgcaacaacgagaacaaattt	20	6	5	10	1	1	1	1	0	0	1	1	2	1	1	0	0	8	3	0	0	8	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:105765747A>T	ENST00000369755.3	+	11	3103	c.2558A>T	c.(2557-2559)cAg>cTg	p.Q853L	SLK_ENST00000335753.4_Missense_Mutation_p.Q853L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	853					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCAAACTACAGCAACAACGA	0.348													43	90					0	0	0	0	T	105765747	A	T	105765747	3	4	468	1	0	0	0	0	1	0	0	0	14836	188	7	5	2600	5	SLK	10	105765747	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	637765	105765747	29769000	86	90775											
BTBD16	118663	broad.mit.edu	37	chr10	124045696	124045696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgagaccttggccaaGctctacctgaaagccctggc	9	8	10	14	0	2	2	0	2	2	1	2	3	2	2	4	2	3	1	4	2	3	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:124045696G>C	ENST00000368994.2	+	5	572	c.321G>C	c.(319-321)aaG>aaC	p.K107N	BTBD16_ENST00000260723.4_Missense_Mutation_p.K106N			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	106										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTTGGCCAAGCTCTACCTGA	0.587													5	219					0	0	0	0	C	124045696	G	C	124045696	3	2	468	1	0	0	0	0	1	0	0	0	1549	962	34	4	332	4	BTBD16	10	124045696	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	18279949	124045696	11489051	87	90776											
NLRP14	338323	broad.mit.edu	37	chr11	7071047	7071047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggccttgaaacacccaGagtgtaaactacagactctc	13	8	9	11	0	1	4	0	2	1	2	2	4	1	4	2	1	3	1	2	1	4	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:7071047G>A	ENST00000299481.4	+	6	2615	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	757					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAAACACCCAGAGTGTAAACT	0.373													66	49					0	0	0	0	A	7071047	G	A	7071047	3	1	468	1	0	0	0	0	1	0	0	0	10546	943	33	2	2287	2	NLRP14	11	7071047	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08		7071047	127935469	88	90777											
OR4D10	390197	broad.mit.edu	37	chr11	59245335	59245335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccattgcattgggctcAcagtggctgcctggttgggg	6	10	16	9	0	1	1	1	0	0	1	1	2	1	1	2	5	2	4	2	5	0	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:59245335A>G	ENST00000530162.1	+	1	490	c.433A>G	c.(433-435)Aca>Gca	p.T145A		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATTGGGCTCACAGTGGCTGC	0.512													43	76					0	0	0	0	G	59245335	A	G	59245335	3	3	468	1	0	0	0	0	1	0	0	0	11125	159	6	5	435	5	OR4D10	11	59245335	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	52174288	59245335	75761181	89	90778											
ZBTB3	79842	broad.mit.edu	37	chr11	62520867	62520867	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacaggggtatcccctctCagggtcagctggccagcata	8	8	11	14	0	2	0	2	0	1	0	5	0	4	0	4	4	2	3	4	4	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:62520867C>G	ENST00000394807.3	-	2	545	c.420G>C	c.(418-420)ctG>ctC	p.L140L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	140	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TATCCCCTCTCAGGGTCAGCT	0.547													42	77					0	0	0	0	G	62520867	C	G	62520867	2	3	468	1	0	0	0	0	0	0	0	1	17629	813	29	2		2	ZBTB3	11	62520867	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	3275532	62520867	72485649	90	90779											
SLC22A11	55867	broad.mit.edu	37	chr11	64335076	64335076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccttgcccgcagtttctCtctattgatctcctactatg	6	15	6	14	1	3	1	0	1	3	0	5	1	3	1	3	0	3	2	3	0	3	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:64335076C>T	ENST00000301891.4	+	7	1438	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.S355F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	355					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CGCAGTTTCTCTCTATTGATC	0.637													53	100					0	0	0	0	T	64335076	C	T	64335076	3	4	468	1	0	0	0	0	1	0	0	0	14530	913	32	2	1090	2	SLC22A11	11	64335076	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	1814209	64335076	70671440	91	90780											
SLC22A11	55867	broad.mit.edu	37	chr11	64335155	64335155	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctcctccaggccctcttCggggccgtggacttcctggg	2	11	12	16	2	1	0	0	0	1	0	6	1	5	1	6	5	0	0	6	5	0	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:64335155C>T	ENST00000301891.4	+	7	1517	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Silent_p.F381F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	381					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	AGGCCCTCTTCGGGGCCGTGG	0.652													44	76					0	0	0	0	T	64335155	C	T	64335155	2	4	468	1	0	0	0	0	0	0	0	1	14530	883	31	1		1	SLC22A11	11	64335155	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	79	64335155	70671361	92	90781											
CWF19L2	143884	broad.mit.edu	37	chr11	107219718	107219718	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctctatggtgctgcAaagggactatcaggcagtgc	9	10	13	9	0	2	0	1	0	1	0	2	1	2	1	0	3	5	5	0	3	4	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:107219718A>T	ENST00000282251.5	-	14	2174	c.2147T>A	c.(2146-2148)tTg>tAg	p.L716*	CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.L716*	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	716							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGGTGCTGCAAAGGGACTAT	0.388													12	29					0	0	0	0	T	107219718	A	T	107219718	4	4	468	1	0	0	0	0	0	1	0	0	4104	131	5	5	557	5	CWF19L2	11	107219718	Nonsense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	42884563	107219718	27786798	93	90782											
VSIG2	23584	broad.mit.edu	37	chr11	124619698	124619698	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcggaagagctgcatctCagtgcagtagagcctcccac	9	7	10	15	1	1	2	1	0	1	2	4	3	2	3	3	1	4	4	3	1	2	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:124619698C>G	ENST00000403470.1	-	4	547	c.492G>C	c.(490-492)ctG>ctC	p.L164L	VSIG2_ENST00000326621.5_Silent_p.L164L			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	164	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGCTGCATCTCAGTGCAGTAG	0.473													43	32					0	0	0	0	G	124619698	C	G	124619698	2	3	468	1	0	0	0	0	0	0	0	1	17320	813	29	2		2	VSIG2	11	124619698	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	17399980	124619698	10386818	94	90783											
GSG1	83445	broad.mit.edu	37	chr12	13243575	13243575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatctccatccagggacaCtggcatgtcaaagcacttgg	10	9	11	11	0	2	0	1	0	1	0	4	1	3	1	2	4	1	3	2	4	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:13243575C>A	ENST00000337630.6	-	2	254	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	GSG1_ENST00000324458.8_Missense_Mutation_p.V76L|GSG1_ENST00000537302.1_Missense_Mutation_p.V63L|GSG1_ENST00000396310.2_Missense_Mutation_p.V60L|GSG1_ENST00000351606.6_Missense_Mutation_p.V76L|GSG1_ENST00000457134.2_Missense_Mutation_p.V63L|GSG1_ENST00000432710.2_Missense_Mutation_p.V76L|GSG1_ENST00000396302.3_Missense_Mutation_p.V63L	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	63						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCCAGGGACACTGGCATGTCA	0.567													35	86					1.26612e-14	1.38528e-14	1	0	A	13243575	C	A	13243575	3	1	468	1	0	0	0	0	1	0	0	0	6870	565	20	4	1010	4	GSG1	12	13243575	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08		13243575	120608320	95	90784											
IPO8	10526	broad.mit.edu	37	chr12	30822217	30822217	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcacatcttcagagatattCtaaaatgagaaaaaaaaaaa	23	9	4	5	0	4	2	2	1	2	2	4	4	4	2	0	0	0	0	0	0	8	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:30822217C>G	ENST00000256079.4	-	10	1383		c.e10-1		IPO8_ENST00000544829.1_Splice_Site	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGAGATATTCTAAAATGAGA	0.308													25	31					0	0	0	0	G	30822217	C	G	30822217	5	3	468	1	0	0	0	0	0	0	1	0	7851	927	32	2	2133	2	IPO8	12	30822217	Splice_Site	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	17578642	30822217	103029678	96	90785											
OR6C6	283365	broad.mit.edu	37	chr12	55688689	55688689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggcagccaggaggtaaaActcagtaactcccggtaaaa	15	6	10	10	1	1	0	1	0	0	0	2	1	2	1	2	4	3	4	2	4	5	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:55688689A>T	ENST00000358433.2	-	1	327	c.328T>A	c.(328-330)Ttt>Att	p.F110I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGAGGTAAAACTCAGTAACT	0.393													36	54					0	0	0	0	T	55688689	A	T	55688689	3	4	468	1	0	0	0	0	1	0	0	0	11265	43	2	5	618	5	OR6C6	12	55688689	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	24866472	55688689	78163206	97	90786											
SART3	9733	broad.mit.edu	37	chr12	108942937	108942937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagctccccttccagcctGagcagtctgatcaagtccac	9	9	8	15	0	2	2	1	2	1	0	5	2	5	2	5	0	3	3	5	0	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:108942937G>A	ENST00000228284.3	-	2	600	c.366C>T	c.(364-366)ctC>ctT	p.L122L	SART3_ENST00000431469.2_Silent_p.L122L|SART3_ENST00000552221.1_5'UTR	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	122					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTTCCAGCCTGAGCAGTCTGA	0.453									Porokeratosis				23	51					0	0	0	0	A	108942937	G	A	108942937	2	1	468	1	0	0	0	0	0	0	0	1	13933	1277	45	2		2	SART3	12	108942937	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	53254248	108942937	24908958	98	90787											
SSH1	54434	broad.mit.edu	37	chr12	109182643	109182643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcacagtgagaattcttCaaaaggagggactttggcag	13	11	11	6	0	3	1	2	1	1	1	3	4	3	3	0	3	0	1	0	3	4	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:109182643C>G	ENST00000326495.5	-	15	2364	c.2271G>C	c.(2269-2271)ttG>ttC	p.L757F	SSH1_ENST00000360239.3_Missense_Mutation_p.L445F	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	757					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGAATTCTTCAAAAGGAGGG	0.527													61	116					0	0	0	0	G	109182643	C	G	109182643	3	3	468	1	0	0	0	0	1	0	0	0	15274	825	29	2	882	2	SSH1	12	109182643	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	239706	109182643	24669252	99	90788											
KNTC1	9735	broad.mit.edu	37	chr12	123022969	123022969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcaacctacatcttattCatgtaacatcaaaacaaaca	17	10	4	10	0	3	0	2	0	1	0	3	0	3	0	1	1	5	2	1	1	7	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:123022969C>T	ENST00000333479.7	+	4	511	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	KNTC1_ENST00000450485.2_Missense_Mutation_p.H112Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	112					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACATCTTATTCATGTAACATC	0.308													5	5					0	0	0	0	T	123022969	C	T	123022969	3	4	468	1	0	0	0	0	1	0	0	0	8480	826	29	2	344	2	KNTC1	12	123022969	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	13840326	123022969	10828926	100	90789											
SBNO1	55206	broad.mit.edu	37	chr12	123794272	123794272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctaagattcccatatCatatcttccattttttttgg	9	19	3	10	0	2	1	1	0	1	1	4	1	4	1	3	1	1	0	3	1	4	10			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:123794272C>A	ENST00000420886.2	-	25	3426	c.3427G>T	c.(3427-3429)Gat>Tat	p.D1143Y	SBNO1_ENST00000267176.4_Missense_Mutation_p.D1142Y|SBNO1_ENST00000602398.1_Missense_Mutation_p.D1143Y|SBNO1_ENST00000602750.1_Missense_Mutation_p.D1142Y	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1143							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTCCCATATCATATCTTCCA	0.393													52	119					7.05377e-20	7.95152e-20	1	0	A	123794272	C	A	123794272	3	1	468	1	0	0	0	0	1	0	0	0	13948	826	29	2	782	2	SBNO1	12	123794272	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	771303	123794272	10057623	101	90790											
PDX1	3651	broad.mit.edu	37	chr13	28494313	28494313	+	Frame_Shift_Del	DEL	T	T	-																															gtactacgcggccacgcagcTttacaaggacccatgcgcgt																										TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:28494313delT	ENST00000381033.4	+	1	157	c.38delT	c.(37-39)ctfs	p.L13fs	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	13	Transactivation domain (By similarity).				detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCACGCAGCTTTACAAGGAC	0.741													2	4	---	---	---	---					-	28494313	T	-	28494313	7	5	468	1	0	1	0	1	0	0	0	0	11766	1609	56	0	40	0	PDX1	13	28494313	Frame_Shift_Del	DEL	T	TCGA-P3-A6T6-01A-11D-A34J-08		28494313	86675565	102	90791											
FRY	10129	broad.mit.edu	37	chr13	32786429	32786429	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttccattcccatctacagGaaccacctctagcagcaata	12	10	4	15	0	3	0	0	0	3	0	5	1	5	1	4	1	4	2	4	1	5	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:32786429G>A	ENST00000380250.3	+	35	5088	c.4591_splice	c.e35-1	p.G1531_splice		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		CCATCTACAGGAACCACCTCT	0.418													12	14					0	0	0	0	A	32786429	G	A	32786429	5	1	468	1	0	0	0	0	0	0	1	0	6111	1188	41	2	4730	2	FRY	13	32786429	Splice_Site	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	4292116	32786429	82383449	103	90792											
PDS5B	23047	broad.mit.edu	37	chr13	33332780	33332780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagctcgtttcttcactCaacctgacaaggtagttact	10	13	6	12	1	3	1	2	1	1	0	4	1	3	1	2	1	4	4	2	1	5	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:33332780C>A	ENST00000315596.10	+	28	3484	c.3298C>A	c.(3298-3300)Caa>Aaa	p.Q1100K		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1100					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTCTTCACTCAACCTGACAA	0.383													40	96					1.32136e-16	1.46293e-16	1	0	A	33332780	C	A	33332780	3	1	468	1	0	0	0	0	1	0	0	0	11763	827	29	2	3404	2	PDS5B	13	33332780	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	546351	33332780	81837098	104	90793											
DZIP1	22873	broad.mit.edu	37	chr13	96293908	96293908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtccacagcccccgccaCcttgtccacgtcgatggcgc	6	6	9	20	5	0	0	0	0	0	0	3	1	2	0	6	1	1	0	6	1	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:96293908C>A	ENST00000347108.3	-	3	670	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	DZIP1_ENST00000361156.3_Missense_Mutation_p.V80L|DZIP1_ENST00000376829.2_Missense_Mutation_p.V80L|DZIP1_ENST00000361396.2_Missense_Mutation_p.V80L|DZIP1_ENST00000466027.1_5'UTR			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	80					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			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)			GCCCCCGCCACCTTGTCCACG	0.662													38	70					2.19962e-31	2.62263e-31	1	0	A	96293908	C	A	96293908	3	1	468	1	0	0	0	0	1	0	0	0	4899	507	18	4	2441	4	DZIP1	13	96293908	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	62961128	96293908	18875970	105	90794											
RNASE13	440163	broad.mit.edu	37	chr14	21502043	21502043	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacttgcgggagcagagtagGtagagcttctggttggttag	8	12	16	5	1	1	2	0	0	1	2	1	3	1	3	0	4	4	6	0	4	4	7			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:21502043G>C	ENST00000382951.3	-	2	542	c.405C>G	c.(403-405)taC>taG	p.Y135*	NDRG2_ENST00000403829.3_Intron|RP11-998D10.1_ENST00000531638.1_3'UTR	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	135						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		AGCAGAGTAGGTAGAGCTTCT	0.532													61	115					0	0	0	0	C	21502043	G	C	21502043	4	2	468	1	0	0	0	0	0	1	0	0	13488	1256	44	4	69	4	RNASE13	14	21502043	Nonsense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08		21502043	85847497	106	90795											
REC8	9985	broad.mit.edu	37	chr14	24648888	24648888	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatggagatgcctttggtGctgcccccagagctcgagct	6	9	12	14	1	0	2	0	0	0	2	1	4	0	2	4	2	5	3	4	2	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:24648888G>A	ENST00000311457.3	+	18	2003	c.1404G>A	c.(1402-1404)gtG>gtA	p.V468V	REC8_ENST00000559919.1_Silent_p.V468V|REC8_ENST00000559939.1_3'UTR			O95072	REC8_HUMAN	REC8 meiotic recombination protein	469	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGCCTTTGGTGCTGCCCCCAG	0.632													23	52					0	0	0	0	A	24648888	G	A	24648888	2	1	468	1	0	0	0	0	0	0	0	1	13281	1306	46	4		4	REC8	14	24648888	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	3146845	24648888	82700652	107	90796											
ARHGAP5	394	broad.mit.edu	37	chr14	32560674	32560674	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttataaaacacagagaCaacttgttgtcacagcaaca	17	9	6	9	0	1	1	1	0	0	1	1	2	1	1	0	0	5	3	0	0	5	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:32560674C>G	ENST00000345122.3	+	2	1114	c.799C>G	c.(799-801)Caa>Gaa	p.Q267E	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q267E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	267					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			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)		AACACAGAGACAACTTGTTGT	0.328													25	197					0	0	0	0	G	32560674	C	G	32560674	3	3	468	1	0	0	0	0	1	0	0	0	888	479	17	4	801	4	ARHGAP5	14	32560674	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	7911786	32560674	74788866	108	90797											
FAM179B	23116	broad.mit.edu	37	chr14	45475316	45475316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctgttcctcccatacCaaggggaataagccttttgc	11	10	8	12	0	0	0	0	0	0	0	2	1	2	1	5	2	4	1	5	2	5	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:45475316C>G	ENST00000361462.2	+	5	2933	c.2750C>G	c.(2749-2751)cCa>cGa	p.P917R	FAM179B_ENST00000382233.2_Missense_Mutation_p.P917R|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.P917R			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	917							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTCCCATACCAAGGGGAATA	0.438													44	90					0	0	0	0	G	45475316	C	G	45475316	3	3	468	1	0	0	0	0	1	0	0	0	5547	594	21	4	2768	4	FAM179B	14	45475316	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	12914642	45475316	61874224	109	90798											
PPP2R5E	5529	broad.mit.edu	37	chr14	63858695	63858695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaaaagacttactggttCtgtgagtgaaggatctttct	12	13	11	5	0	3	3	0	2	3	1	3	5	3	5	0	3	1	1	0	3	5	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:63858695C>T	ENST00000337537.3	-	9	1500	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.E224K|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.E300K	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	300					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTTACTGGTTCTGTGAGTGAA	0.289													12	42					0	0	0	0	T	63858695	C	T	63858695	3	4	468	1	0	0	0	0	1	0	0	0	12472	922	32	2	529	2	PPP2R5E	14	63858695	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	18383379	63858695	43490845	110	90799											
KCNK10	54207	broad.mit.edu	37	chr14	88658688	88658688	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatcgtcacaaacacaaTgcagccggccaagatgaaca	16	4	10	11	2	1	2	1	1	0	1	2	3	1	3	2	2	4	1	2	2	4	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:88658688T>A	ENST00000340700.5	-	5	1184	c.733A>T	c.(733-735)Att>Ttt	p.I245F	KCNK10_ENST00000319231.5_Missense_Mutation_p.I250F|KCNK10_ENST00000312350.5_Missense_Mutation_p.I250F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	245					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACAAACACAATGCAGCCGGCC	0.502													9	62					0	0	0	0	A	88658688	T	A	88658688	3	1	468	1	0	0	0	0	1	0	0	0	8112	1464	51	5	895	5	KCNK10	14	88658688	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	24799993	88658688	18690852	111	90800											
IFI27	3429	broad.mit.edu	37	chr14	94578103	94578103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcctctggctctgcCgtagttttgcccctgggtga	3	12	15	11	1	2	1	0	1	2	0	2	1	2	1	4	4	2	3	4	4	1	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:94578103C>T	ENST00000555744.1	+	2	263	c.75C>T	c.(73-75)gcC>gcT	p.A25A	IFI27_ENST00000448882.1_Silent_p.A25A|IFI27_ENST00000557634.1_Silent_p.A25A|IFI27_ENST00000444961.1_Silent_p.A25A|IFI27_ENST00000298902.5_Silent_p.A25A|IFI27_ENST00000557098.1_Intron			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	25					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CTGGCTCTGCCGTAGTTTTGC	0.662													17	25					0	0	0	0	T	94578103	C	T	94578103	2	4	468	1	0	0	0	0	0	0	0	1	7565	639	23	1		1	IFI27	14	94578103	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	5919415	94578103	12771437	112	90801											
DNAJC17	55192	broad.mit.edu	37	chr15	41068427	41068427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacgctcctggcgtatctGctcccggatgagcctctgct	4	11	11	15	3	3	1	1	1	2	0	5	2	5	2	3	2	3	4	3	2	1	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:41068427G>C	ENST00000220496.4	-	6	475	c.445C>G	c.(445-447)Cag>Gag	p.Q149E		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	149					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGCGTATCTGCTCCCGGATG	0.607													13	36					0	0	0	0	C	41068427	G	C	41068427	3	2	468	1	0	0	0	0	1	0	0	0	4672	1328	46	4	493	4	DNAJC17	15	41068427	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08		41068427	61462965	113	90802											
PLA2G4E	123745	broad.mit.edu	37	chr15	42298223	42298223	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacttcacgtgggttttctTtcggaaacagagcttggtga	10	13	11	7	2	2	2	1	1	1	1	3	3	2	3	0	3	3	2	0	3	2	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:42298223T>G	ENST00000399518.3	-	4	976	c.490A>C	c.(490-492)Aag>Cag	p.K164Q	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.K135Q	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	146					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGGTTTTCTTTCGGAAACAG	0.507													10	53					0	0	0	0	G	42298223	T	G	42298223	3	3	468	1	0	0	0	0	1	0	0	0	12077	1850	64	5	2184	5	PLA2G4E	15	42298223	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	1229796	42298223	60233169	114	90803											
DUOXA1	90527	broad.mit.edu	37	chr15	45412980	45412980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgttgtaattgatggtctCattcagctgctgcacggggg	6	13	13	9	2	2	1	2	1	1	0	4	1	2	1	0	3	3	5	0	3	1	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:45412980C>G	ENST00000558996.1	-	4	283	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	DUOXA1_ENST00000559014.1_Missense_Mutation_p.E122Q|DUOXA1_ENST00000267803.4_Missense_Mutation_p.E122Q|DUOXA1_ENST00000558422.1_Missense_Mutation_p.E77Q|DUOXA1_ENST00000430224.2_Missense_Mutation_p.E77Q|DUOXA1_ENST00000560572.1_Missense_Mutation_p.E122Q	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	122					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TTGATGGTCTCATTCAGCTGC	0.592													55	120					0	0	0	0	G	45412980	C	G	45412980	3	3	468	1	0	0	0	0	1	0	0	0	4838	835	29	2	1107	2	DUOXA1	15	45412980	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	3114757	45412980	57118412	115	90804											
DMXL2	23312	broad.mit.edu	37	chr15	51773320	51773320	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttttcatcactaaacCaacagcatcgtcttcctctt	10	15	3	13	1	4	0	2	0	2	0	6	0	5	0	2	0	4	2	2	0	4	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:51773320C>G	ENST00000251076.5	-	24	6270	c.5983G>C	c.(5983-5985)Ggt>Cgt	p.G1995R	DMXL2_ENST00000543779.2_Missense_Mutation_p.G1995R|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1359R|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1995						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCACTAAACCAACAGCATCG	0.423													23	239					0	0	0	0	G	51773320	C	G	51773320	3	3	468	1	0	0	0	0	1	0	0	0	4632	594	21	4	3210	4	DMXL2	15	51773320	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	6360340	51773320	50758072	116	90805											
GOLGA6B	55889	broad.mit.edu	37	chr15	72953659	72953659	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttacagcagaccataaagGagcgggcgctgctgaacgca	12	5	14	10	3	0	2	0	1	0	1	0	3	0	3	1	3	5	5	1	3	4	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:72953659G>T	ENST00000421285.3	+	8	619	c.619G>T	c.(619-621)Gag>Tag	p.E207*		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	207										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GACCATAAAGGAGCGGGCGCT	0.597													22	190					8.24728e-16	9.07689e-16	1	0	T	72953659	G	T	72953659	4	4	468	1	0	0	0	0	0	1	0	0	6609	1175	41	2	649	2	GOLGA6B	15	72953659	Nonsense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	21180339	72953659	29577733	117	90806											
GOLGA6A	342096	broad.mit.edu	37	chr15	74368272	74368272	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgttcagcagcgcccgctCctttatggtctgctgtaacc	5	12	10	14	3	2	0	1	0	1	0	3	0	3	0	3	1	5	5	3	1	2	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:74368272C>A	ENST00000290438.3	-	8	659	c.619G>T	c.(619-621)Gag>Tag	p.E207*		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	207										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						AGCGCCCGCTCCTTTATGGTC	0.592													6	257					0.248553	0.248553	1	0	A	74368272	C	A	74368272	4	1	468	1	0	0	0	0	0	1	0	0	6608	864	30	2	1506	2	GOLGA6A	15	74368272	Nonsense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	1414613	74368272	28163120	118	90807											
RASGRF1	5923	broad.mit.edu	37	chr15	79264256	79264256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttgaaactggcgaatCtctcggataatatgggatat	11	14	11	5	2	1	1	0	1	1	0	3	4	1	3	0	3	1	2	0	3	5	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:79264256C>A	ENST00000419573.3	-	27	3955	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1211D|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E443D	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1229	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACTGGCGAATCTCTCGGATAA	0.478													51	173					1.17673e-23	1.36795e-23	1	0	A	79264256	C	A	79264256	3	1	468	1	0	0	0	0	1	0	0	0	13154	912	32	2	148	2	RASGRF1	15	79264256	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	4895984	79264256	23267136	119	90808											
MEX3B	84206	broad.mit.edu	37	chr15	82336850	82336850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctccctccgagccatggCcacatcctccttcctgcccg	5	9	7	20	2	1	0	0	0	1	0	6	2	5	0	8	1	2	0	8	1	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:82336850C>G	ENST00000329713.4	-	2	796	c.361G>C	c.(361-363)Gcc>Ccc	p.A121P	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	121	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGAGCCATGGCCACATCCTCC	0.592													54	38					0	0	0	0	G	82336850	C	G	82336850	3	3	468	1	0	0	0	0	1	0	0	0	9579	739	26	4	1352	4	MEX3B	15	82336850	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	3072594	82336850	20194542	120	90809											
IQGAP1	8826	broad.mit.edu	37	chr15	91029360	91029360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcccaccatcgagtccctGataggtagagttctaacttt	9	12	9	11	1	1	2	0	1	1	1	3	3	2	2	3	1	2	2	3	1	3	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:91029360G>A	ENST00000268182.5	+	31	4144	c.4020G>A	c.(4018-4020)ctG>ctA	p.L1340L	IQGAP1_ENST00000560738.1_Silent_p.L768L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1340	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCGAGTCCCTGATAGGTAGAG	0.483													11	36					0	0	0	0	A	91029360	G	A	91029360	2	1	468	1	0	0	0	0	0	0	0	1	7867	1277	45	2		2	IQGAP1	15	91029360	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	8692510	91029360	11502032	121	90810											
RHBDF1	64285	broad.mit.edu	37	chr16	110267	110267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtcttcggaggagggctCatcacacaccctgcatgagc	9	7	13	12	1	3	1	2	1	1	0	4	3	3	3	1	4	2	2	1	4	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:110267C>T	ENST00000262316.6	-	13	1811	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	557					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GAGGAGGGCTCATCACACACC	0.602													23	33					0	0	0	0	T	110267	C	T	110267	3	4	468	1	0	0	0	0	1	0	0	0	13402	835	29	2	922	2	RHBDF1	16	110267	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08		110267	90244486	122	90811											
DNAH3	55567	broad.mit.edu	37	chr16	21136517	21136517	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgtatcatgaaaagggaAacgaggtcctcaagtgactt	13	11	11	6	1	2	2	2	2	0	0	3	4	3	3	1	2	1	1	1	2	5	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:21136517A>C	ENST00000261383.3	-	9	1382	c.1383T>G	c.(1381-1383)gtT>gtG	p.V461V	DNAH3_ENST00000415178.1_Silent_p.V461V|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	461	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAAAGGGAAACGAGGTCCT	0.448													30	67					0	0	0	0	C	21136517	A	C	21136517	2	2	468	1	0	0	0	0	0	0	0	1	4640	1	1	5		5	DNAH3	16	21136517	Silent	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	21026250	21136517	69218236	123	90812											
SCNN1B	6338	broad.mit.edu	37	chr16	23364196	23364196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagagaatcctggctcCtgagctaagccatgccaatg	10	8	11	12	0	0	2	0	1	0	1	2	4	2	3	5	2	3	2	5	2	3	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:23364196C>G	ENST00000343070.2	+	3	562	c.386C>G	c.(385-387)cCt>cGt	p.P129R	SCNN1B_ENST00000307331.5_Missense_Mutation_p.P174R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P129R|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P129R|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	129					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ATCCTGGCTCCTGAGCTAAGC	0.542													42	59					0	0	0	0	G	23364196	C	G	23364196	3	3	468	1	0	0	0	0	1	0	0	0	14015	681	24	4	392	4	SCNN1B	16	23364196	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	2227679	23364196	66990557	124	90813											
TNRC6A	27327	broad.mit.edu	37	chr16	24834300	24834300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtccgctacagttcaaaaGaagaggtagtgaaggcacaa	15	7	12	7	1	1	3	1	1	0	2	2	3	2	3	1	3	1	4	1	3	7	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:24834300G>C	ENST00000395799.3	+	24	5608	c.5479G>C	c.(5479-5481)Gaa>Caa	p.E1827Q	TNRC6A_ENST00000432286.2_Missense_Mutation_p.E305Q|TNRC6A_ENST00000315183.7_Missense_Mutation_p.E1778Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1827	RRM.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTTCAAAAGAAGAGGTAGT	0.542													59	80					0	0	0	0	C	24834300	G	C	24834300	3	2	468	1	0	0	0	0	1	0	0	0	16434	943	33	2	5573	2	TNRC6A	16	24834300	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	1470104	24834300	65520453	125	90814											
SLC6A2	6530	broad.mit.edu	37	chr16	55728019	55728019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaaatttgacaacaactGttacaggtaagattcttctc	15	12	5	9	0	2	2	0	1	2	1	3	2	2	2	0	1	4	2	0	1	6	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:55728019G>T	ENST00000379906.2	+	6	1271	c.1016G>T	c.(1015-1017)tGt>tTt	p.C339F	SLC6A2_ENST00000414754.3_Missense_Mutation_p.C339F|SLC6A2_ENST00000568943.1_Missense_Mutation_p.C339F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.C234F|SLC6A2_ENST00000566163.1_Missense_Mutation_p.C294F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.C339F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.C339F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	339					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GACAACAACTGTTACAGGTAA	0.443													38	57					9.88483e-10	1.04465e-09	1	0	T	55728019	G	T	55728019	3	4	468	1	0	0	0	0	1	0	0	0	14771	1377	48	4	1129	4	SLC6A2	16	55728019	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	30893719	55728019	34626734	126	90815											
DHODH	1723	broad.mit.edu	37	chr16	72057134	72057134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccagggtgccctgcGctctgaaacaggagggctga	7	6	16	12	1	1	2	0	2	1	0	2	3	2	3	3	4	3	2	3	4	1	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:72057134G>A	ENST00000572887.1	+	7	1067	c.890G>A	c.(889-891)cGc>cAc	p.R297H	DHODH_ENST00000219240.4_Missense_Mutation_p.R297H|DHODH_ENST00000573922.1_3'UTR			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	297					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GGTGCCCTGCGCTCTGAAACA	0.562													33	39					0	0	0	0	A	72057134	G	A	72057134	3	1	468	1	0	0	0	0	1	0	0	0	4521	1087	38	1	916	1	DHODH	16	72057134	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	16329115	72057134	18297619	127	90816											
GABARAPL2	11345	broad.mit.edu	37	chr16	75601963	75601963	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaggtctcaggctctcAgattgttgacattgacaaac	13	10	10	8	0	2	3	2	2	2	1	4	4	2	4	0	3	1	2	0	3	3	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:75601963A>C	ENST00000037243.2	+	3	255	c.119A>C	c.(118-120)cAg>cCg	p.Q40P	GABARAPL2_ENST00000568455.1_5'UTR|GABARAPL2_ENST00000563744.1_Intron|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.Q40P	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	40	Interaction with GABRG2 (Potential).				autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding			lung(1)|ovary(1)	2						TCAGGCTCTCAGATTGTTGAC	0.478													78	104					0	0	0	0	C	75601963	A	C	75601963	3	2	468	1	0	0	0	0	1	0	0	0	6202	188	7	5	129	5	GABARAPL2	16	75601963	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	3544829	75601963	14752790	128	90817											
MBTPS1	8720	broad.mit.edu	37	chr16	84132848	84132848	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctacttcactgctcttCagggcacttgaaataaatga	11	14	7	9	0	4	2	2	2	2	0	4	2	4	2	0	1	2	2	0	1	4	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:84132848C>A	ENST00000343411.3	-	3	726	c.231G>T	c.(229-231)ctG>ctT	p.L77L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	77					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CACTGCTCTTCAGGGCACTTG	0.348													47	83					1.6237e-14	1.76613e-14	1	0	A	84132848	C	A	84132848	2	1	468	1	0	0	0	0	0	0	0	1	9430	813	29	2		2	MBTPS1	16	84132848	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	8530885	84132848	6221905	129	90818											
FOXC2	2303	broad.mit.edu	37	chr16	86601504	86601504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcaaggagccgccccCggcggcgtccaagggcgccc	6	2	13	20	5	1	0	1	0	0	0	2	1	2	1	7	4	1	0	7	4	2	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:86601504C>T	ENST00000320354.4	+	1	648	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	188					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GAGCCGCCCCCGGCGGCGTCC	0.701									Late-onset Hereditary Lymphedema				17	37					0	0	0	0	T	86601504	C	T	86601504	3	4	468	1	0	0	0	0	1	0	0	0	6040	652	23	1	565	1	FOXC2	16	86601504	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	2468656	86601504	3753249	130	90819											
GJC1	10052	broad.mit.edu	37	chr17	42882287	42882287	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggacagttcggtgtacTggatttgatctggtttgaca	8	15	12	6	1	1	2	0	2	1	0	2	4	1	4	0	4	1	3	0	4	1	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr17:42882287T>A	ENST00000426548.1	-	3	1168	c.899A>T	c.(898-900)cAg>cTg	p.Q300L	GJC1_ENST00000590758.1_Missense_Mutation_p.Q300L|GJC1_ENST00000330514.4_Missense_Mutation_p.Q300L|GJC1_ENST00000592524.1_Missense_Mutation_p.Q300L	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	300					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TTCGGTGTACTGGATTTGATC	0.488													70	158					0	0	0	0	A	42882287	T	A	42882287	3	1	468	1	0	0	0	0	1	0	0	0	6465	1580	55	5	295	5	GJC1	17	42882287	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08		42882287	38312923	131	90820											
STH	246744	broad.mit.edu	37	chr17	44076946	44076946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccattgaaggcccctttCagggccagaactgtccctcc	7	11	8	15	0	1	2	1	1	0	1	4	2	4	2	6	2	1	0	6	2	2	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr17:44076946C>G	ENST00000537309.1	+	1	331	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	101						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGGCCCCTTTCAGGGCCAGAA	0.587													7	23					0	0	0	0	G	44076946	C	G	44076946	3	3	468	1	0	0	0	0	1	0	0	0	15371	827	29	2	303	2	STH	17	44076946	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	1194659	44076946	37118264	132	90821											
SDK2	54549	broad.mit.edu	37	chr17	71426711	71426711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcctgggtgcccttgaTgacactctgatcctgggggg	5	9	17	10	0	1	3	0	3	1	0	2	4	2	4	3	6	1	0	3	6	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr17:71426711T>C	ENST00000392650.3	-	12	1522	c.1522A>G	c.(1522-1524)Atc>Gtc	p.I508V	SDK2_ENST00000388726.3_Missense_Mutation_p.I508V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	508	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGCCCTTGATGACACTCTGA	0.617													19	5					0	0	0	0	C	71426711	T	C	71426711	3	2	468	1	0	0	0	0	1	0	0	0	14056	1464	51	5	5132	5	SDK2	17	71426711	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	27349765	71426711	9768499	133	90822											
ENOSF1	55556	broad.mit.edu	37	chr18	678725	678725	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggcaatgccaattcctaAtgggaccagtgcctataaaa	13	10	9	9	0	0	0	0	0	0	0	1	1	1	1	4	2	2	1	4	2	6	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr18:678725A>T	ENST00000319815.6	-	4	1463	c.199T>A	c.(199-201)Tta>Ata	p.L67I	ENOSF1_ENST00000251101.7_Missense_Mutation_p.L297I|ENOSF1_ENST00000340116.7_Intron|ENOSF1_ENST00000580982.1_Missense_Mutation_p.L221I|ENOSF1_ENST00000383578.3_Missense_Mutation_p.L215I|ENOSF1_ENST00000583973.1_5'UTR			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	297					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCAATTCCTAATGGGACCAGT	0.478													4	150					0	0	0	0	T	678725	A	T	678725	3	4	468	1	0	0	0	0	1	0	0	0	5163	98	4	5	462	5	ENOSF1	18	678725	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08		678725	77398523	134	90823											
LAMA1	284217	broad.mit.edu	37	chr18	6978337	6978337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgctctggcttgcagaCgtggccagctctttggtttt	4	13	12	12	3	2	1	0	0	2	1	2	1	2	1	2	3	2	5	2	3	0	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr18:6978337C>T	ENST00000389658.3	-	43	6141	c.6048G>A	c.(6046-6048)acG>acA	p.T2016T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2016	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.T2016T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTTGCAGACGTGGCCAGCT	0.512													24	111					0	0	0	0	T	6978337	C	T	6978337	2	4	468	1	0	0	0	0	0	0	0	1	8658	523	19	1		1	LAMA1	18	6978337	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	6299612	6978337	71098911	135	90824											
SYT4	6860	broad.mit.edu	37	chr18	40850345	40850345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccacttggcaatttgtctCctggggtagtcacagatctc	7	13	10	11	0	3	1	1	0	2	1	5	1	3	1	2	3	1	2	2	3	2	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr18:40850345C>T	ENST00000255224.3	-	4	1607	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.R395R	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	413						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAATTTGTCTCCTGGGGTAGT	0.483													116	183					0	0	0	0	T	40850345	C	T	40850345	2	4	468	1	0	0	0	0	0	0	0	1	15567	854	30	2		2	SYT4	18	40850345	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	33872008	40850345	37226903	136	90825											
LPHN1	22859	broad.mit.edu	37	chr19	14273620	14273620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgccagccgcctcgctGtcatcatccacgtacacgga	7	8	10	16	5	2	0	2	0	0	0	4	1	3	1	4	2	3	3	4	2	1	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:14273620G>A	ENST00000340736.6	-	6	1305	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.D331D|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	336	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGCCTCGCTGTCATCATCCA	0.607													19	42					0	0	0	0	A	14273620	G	A	14273620	2	1	468	1	0	0	0	0	0	0	0	1	8979	1368	48	4		4	LPHN1	19	14273620	Silent	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08		14273620	44855363	137	90826											
ISYNA1	51477	broad.mit.edu	37	chr19	18546692	18546692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgataggttctccccatCgttgttgcccaggtggttgt	4	13	12	12	3	1	0	0	0	1	0	3	1	1	0	4	3	1	4	4	3	1	5			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:18546692C>A	ENST00000545187.1	-	5	851	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	ISYNA1_ENST00000457269.3_Missense_Mutation_p.D285Y|ISYNA1_ENST00000317018.6_Missense_Mutation_p.D137Y|ISYNA1_ENST00000578963.1_Missense_Mutation_p.D211Y|ISYNA1_ENST00000338128.7_Missense_Mutation_p.D339Y			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	339					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTCTCCCCATCGTTGTTGCCC	0.592													7	201					2.7689e-08	2.89334e-08	1	0	A	18546692	C	A	18546692	3	1	468	1	0	0	0	0	1	0	0	0	7920	884	31	3	677	3	ISYNA1	19	18546692	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	4273072	18546692	40582291	138	90827											
TMEM161A	54929	broad.mit.edu	37	chr19	19243552	19243552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcttctcctcactaaggCcattggcccacctgggagga	7	9	12	13	0	2	0	1	0	1	0	3	2	2	2	4	5	0	1	4	5	1	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:19243552C>G	ENST00000450333.2	-	4	237	c.200G>C	c.(199-201)gGc>gCc	p.G67A	TMEM161A_ENST00000162044.9_Missense_Mutation_p.G67A|TMEM161A_ENST00000592369.1_5'UTR|TMEM161A_ENST00000587583.2_Missense_Mutation_p.G67A	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	67					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CTCACTAAGGCCATTGGCCCA	0.632													14	24					0	0	0	0	G	19243552	C	G	19243552	3	3	468	1	0	0	0	0	1	0	0	0	16170	739	26	4	1275	4	TMEM161A	19	19243552	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	696860	19243552	39885431	139	90828											
ZNF43	7594	broad.mit.edu	37	chr19	21992531	21992531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgttcacagtttttatatCttctcagtgtcgctttttgg	6	21	7	7	1	3	0	2	0	2	0	5	0	3	0	0	1	0	3	0	1	3	9			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:21992531C>G	ENST00000594012.1	-	7	804	c.290G>C	c.(289-291)aGa>aCa	p.R97T	ZNF43_ENST00000354959.4_Missense_Mutation_p.R103T|ZNF43_ENST00000598381.1_Missense_Mutation_p.R97T|ZNF43_ENST00000595461.1_Missense_Mutation_p.R97T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTTTATATCTTCTCAGTGT	0.318													15	78					0	0	0	0	G	21992531	C	G	21992531	3	3	468	1	0	0	0	0	1	0	0	0	17998	913	32	2	2125	2	ZNF43	19	21992531	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	2748979	21992531	37136452	140	90829											
ANKRD27	84079	broad.mit.edu	37	chr19	33092942	33092942	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcctgatcttaacagTgacatactccttgcggtcag	8	16	7	10	1	2	2	1	2	1	0	4	2	4	2	2	1	3	0	2	1	2	6			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:33092942T>C	ENST00000306065.4	-	26	2904	c.2746A>G	c.(2746-2748)Act>Gct	p.T916A		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	916					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATCTTAACAGTGACATACTCC	0.378													46	88					0	0	0	0	C	33092942	T	C	33092942	3	2	468	1	0	0	0	0	1	0	0	0	655	1696	59	5	422	5	ANKRD27	19	33092942	Missense_Mutation	SNP	T	TCGA-P3-A6T6-01A-11D-A34J-08	11100411	33092942	26036041	141	90830											
DMKN	93099	broad.mit.edu	37	chr19	36003524	36003524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagtttggtggccctcCattgcctccttgaccccagg	6	10	9	16	0	0	1	0	1	0	0	2	1	2	1	7	3	1	1	7	3	1	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:36003524C>T	ENST00000339686.3	-	2	771	c.595G>A	c.(595-597)Gga>Aga	p.G199R	DMKN_ENST00000451297.2_Missense_Mutation_p.G199R|DMKN_ENST00000447113.2_Missense_Mutation_p.G199R|DMKN_ENST00000429837.1_Missense_Mutation_p.G199R|DMKN_ENST00000418261.1_Missense_Mutation_p.G199R|DMKN_ENST00000440396.1_Missense_Mutation_p.G199R|DMKN_ENST00000424570.2_Missense_Mutation_p.G199R|DMKN_ENST00000419602.1_Missense_Mutation_p.G199R	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	199	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGTGGCCCTCCATTGCCTCCT	0.612													37	58					0	0	0	0	T	36003524	C	T	36003524	3	4	468	1	0	0	0	0	1	0	0	0	4619	603	21	4	1212	4	DMKN	19	36003524	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	2910582	36003524	23125459	142	90831											
NPHS1	4868	broad.mit.edu	37	chr19	36336673	36336673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgcagtgcggatgcgttgGccaggatcgtcacgttagtt	6	10	16	9	5	1	0	1	0	0	0	2	2	1	2	1	4	2	4	1	4	1	3			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:36336673G>T	ENST00000378910.5	-	13	1654	c.1655C>A	c.(1654-1656)gCc>gAc	p.A552D	NPHS1_ENST00000353632.6_Missense_Mutation_p.A552D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	552	Ig-like C2-type 6.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				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)			GGATGCGTTGGCCAGGATCGT	0.637													10	34					5.50884e-06	5.66101e-06	1	0	T	36336673	G	T	36336673	3	4	468	1	0	0	0	0	1	0	0	0	10652	1203	42	4	2138	4	NPHS1	19	36336673	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	333149	36336673	22792310	143	90832											
MEGF8	1954	broad.mit.edu	37	chr19	42874353	42874353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctcagggcagccactgtGagcagtgcctcccgctgttt	5	11	12	13	1	1	1	1	1	1	0	3	1	2	1	3	1	3	5	3	1	0	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:42874353G>A	ENST00000334370.4	+	38	7281	c.6646G>A	c.(6646-6648)Gag>Aag	p.E2216K	MEGF8_ENST00000251268.6_Missense_Mutation_p.E2283K|MEGF8_ENST00000378073.4_5'UTR	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2283	EGF-like 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGCCACTGTGAGCAGTGCCT	0.622													17	42					0	0	0	0	A	42874353	G	A	42874353	3	1	468	1	0	0	0	0	1	0	0	0	9532	1291	45	2	6796	2	MEGF8	19	42874353	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	6537680	42874353	16254630	144	90833											
HIF3A	64344	broad.mit.edu	37	chr19	46807198	46807198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtcccgggatgcggccCgcagccggcgcagccaggag	9	2	16	14	5	0	0	0	0	0	0	1	2	1	2	4	4	3	2	4	4	2	0			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:46807198C>T	ENST00000377670.4	+	2	101	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	HIF3A_ENST00000472815.1_Silent_p.P3P|HIF3A_ENST00000420102.2_Silent_p.P21P|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000244303.6_Silent_p.P3P|HIF3A_ENST00000300862.3_Missense_Mutation_p.R22C|HIF3A_ENST00000600383.1_Silent_p.P3P	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			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)		GGATGCGGCCCGCAGCCGGCG	0.657													4	15					0	0	0	0	T	46807198	C	T	46807198	3	4	468	1	0	0	0	0	1	0	0	0	7155	652	23	1	100	1	HIF3A	19	46807198	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	3932845	46807198	12321785	145	90834											
PPFIA3	8541	broad.mit.edu	37	chr19	49646098	49646098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggtatgtggccgcctGccgggccaatgtcaagagcg	6	8	15	12	3	1	1	1	0	0	1	1	1	1	1	5	3	3	1	5	3	3	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:49646098G>A	ENST00000334186.4	+	21	2931	c.2582G>A	c.(2581-2583)tGc>tAc	p.C861Y	PPFIA3_ENST00000602351.1_Missense_Mutation_p.C861Y	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	861	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGCCGCCTGCCGGGCCAAT	0.622													29	65					0	0	0	0	A	49646098	G	A	49646098	3	1	468	1	0	0	0	0	1	0	0	0	12382	1319	46	4	2660	4	PPFIA3	19	49646098	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08	2838900	49646098	9482885	146	90835											
PCIF1	63935	broad.mit.edu	37	chr20	44567730	44567730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagccagccctgttctcCaaagccaatccgcctggttc	8	9	8	16	1	2	1	1	0	1	1	5	1	3	1	6	1	3	2	6	1	2	2			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr20:44567730C>G	ENST00000372409.3	+	3	456	c.92C>G	c.(91-93)cCa>cGa	p.P31R		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	31						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCCTGTTCTCCAAAGCCAATC	0.632													22	49					0	0	0	0	G	44567730	C	G	44567730	3	3	468	1	0	0	0	0	1	0	0	0	11651	594	21	4	94	4	PCIF1	20	44567730	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08		44567730	18457790	147	90836											
SIM2	6493	broad.mit.edu	37	chr21	38084919	38084919	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtccatttaggcttatcCcaggtgggtattgcctaatt	7	16	9	9	0	1	0	0	0	1	0	3	0	3	0	3	3	1	2	3	3	4	7			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr21:38084919C>G	ENST00000290399.6	+	3	958	c.345C>G	c.(343-345)tcC>tcG	p.S115S	SIM2_ENST00000430056.3_Silent_p.S115S	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	115	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TAGGCTTATCCCAGGTGGGTA	0.378													34	57					0	0	0	0	G	38084919	C	G	38084919	2	3	468	1	0	0	0	0	0	0	0	1	14412	610	22	4		4	SIM2	21	38084919	Silent	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08		38084919	10044976	148	90837											
MED15	51586	broad.mit.edu	37	chr22	20937129	20937129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctcacttggctgcagctCtggccctgccccatctccca	4	11	7	19	0	4	0	1	0	3	0	6	0	4	0	4	2	3	3	4	2	0	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr22:20937129C>T	ENST00000263205.7	+	11	1481	c.1412C>T	c.(1411-1413)tCt>tTt	p.S471F	MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.S360F|MED15_ENST00000406969.1_Missense_Mutation_p.S405F|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.S405F|MED15_ENST00000425759.2_Missense_Mutation_p.S320F|MED15_ENST00000292733.7_Missense_Mutation_p.S431F	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	471	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GGCTGCAGCTCTGGCCCTGCC	0.692													42	65					0	0	0	0	T	20937129	C	T	20937129	3	4	468	1	0	0	0	0	1	0	0	0	9502	913	32	2	1454	2	MED15	22	20937129	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08		20937129	30367437	149	90838											
RASL10A	10633	broad.mit.edu	37	chr22	29709456	29709456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgcagcgccagcccctgCgcactagggcggccagcgcg	6	2	15	18	6	0	0	0	0	0	0	0	0	0	0	5	2	5	2	5	2	1	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr22:29709456C>G	ENST00000216101.6	-	3	955	c.446G>C	c.(445-447)cGc>cCc	p.R149P	RASL10A_ENST00000401450.3_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	149	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						CCAGCCCCTGCGCACTAGGGC	0.736													4	4					0	0	0	0	G	29709456	C	G	29709456	3	3	468	1	0	0	0	0	1	0	0	0	13161	768	27	3	169	3	RASL10A	22	29709456	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	8772327	29709456	21595110	150	90839											
OTUD5	55593	broad.mit.edu	37	chrX	48781242	48781242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacgaggctgaactccGctgccgcggggaccggctag	7	5	17	12	5	0	2	0	2	0	0	1	4	1	3	3	5	2	3	3	5	2	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:48781242G>A	ENST00000156084.4	-	7	1426	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	OTUD5_ENST00000396743.3_Missense_Mutation_p.R451W|OTUD5_ENST00000376488.3_Missense_Mutation_p.R451W|OTUD5_ENST00000428668.2_Missense_Mutation_p.R234W	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	456					negative regulation of type I interferon production		cysteine-type peptidase activity	p.R427G(1)|p.R456G(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCTGAACTCCGCTGCCGCGGG	0.637													10	6					0	0	0	0	A	48781242	G	A	48781242	3	1	468	1	0	0	0	0	1	0	0	0	11386	1086	38	1	361	1	OTUD5	23	48781242	Missense_Mutation	SNP	G	TCGA-P3-A6T6-01A-11D-A34J-08		48781242	106489318	151	90840											
HDAC8	55869	broad.mit.edu	37	chrX	71694509	71694509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctagttttcagacaaggCtatgcaaatggggaagacaa	15	9	11	6	0	2	2	1	0	1	2	2	3	2	3	0	3	1	3	0	3	6	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:71694509C>T	ENST00000373561.4	-	10	1150	c.809G>A	c.(808-810)aGc>aAc	p.S270N	HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373560.2_3'UTR|HDAC8_ENST00000439122.2_3'UTR|HDAC8_ENST00000373573.3_Intron|HDAC8_ENST00000373571.1_Intron|HDAC8_ENST00000373559.4_3'UTR|HDAC8_ENST00000373589.4_Intron			Q9BY41	HDAC8_HUMAN	histone deacetylase 8	0	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TCAGACAAGGCTATGCAAATG	0.443													15	56					0	0	0	0	T	71694509	C	T	71694509	3	4	468	1	0	0	0	0	1	0	0	0	7063	812	28	4		4	HDAC8	23	71694509	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	22913267	71694509	83576051	152	90841											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	11	4	10	16	0	0	0	0	0	0	0	0	0	0	0	2	0	11	8	2	0	1	1			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607													5	132					0	0	0	0	T	149639635	A	T	149639635	3	4	468	1	0	0	0	0	1	0	0	0	9277	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-P3-A6T6-01A-11D-A34J-08	77945126	149639635	5630925	153	90842											
MAGEA12	4111	broad.mit.edu	37	chrX	151900173	151900173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagtcgccctcttttgCgattatggccaggacgatta	8	11	11	11	3	1	0	0	0	1	0	2	3	1	1	2	3	1	1	2	3	2	4			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:151900173C>T	ENST00000393900.3	-	3	981	c.628G>A	c.(628-630)Gca>Aca	p.A210T	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.A210T|MAGEA12_ENST00000357916.4_Missense_Mutation_p.A210T	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	210	MAGE.									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)					CCCTCTTTTGCGATTATGGCC	0.577													7	362					0	0	0	0	T	151900173	C	T	151900173	3	4	468	1	0	0	0	0	1	0	0	0	9231	768	27	1	320	1	MAGEA12	23	151900173	Missense_Mutation	SNP	C	TCGA-P3-A6T6-01A-11D-A34J-08	2260538	151900173	3370387	154	90843											
TARDBP	23435	broad.mit.edu	37	chr1	11080535	11080535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtgtttgtggggcgctGtacagaggacatgactgagg	11	9	16	5	1	0	3	0	2	0	1	0	4	0	4	0	4	1	3	0	4	3	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:11080535G>A	ENST00000240185.3	+	5	707	c.593G>A	c.(592-594)tGt>tAt	p.C198Y	TARDBP_ENST00000439080.2_Missense_Mutation_p.C82Y|TARDBP_ENST00000315091.3_Missense_Mutation_p.C198Y	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	198	RRM 1.|RRM 2.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTGGGGCGCTGTACAGAGGAC	0.453													29	104					0	0	0	0	A	11080535	G	A	11080535	3	1	469	1	0	0	0	0	1	0	0	0	15648	1377	48	4	607	4	TARDBP	1	11080535	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		11080535	238170086	1	90844											
CLCNKA	1187	broad.mit.edu	37	chr1	16359723	16359723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcgtgacatcgcggggcaGagctgtgggctgcgtgtcct	4	10	16	11	4	0	2	0	1	0	1	3	2	1	2	1	3	2	3	1	3	0	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:16359723G>C	ENST00000375692.1	+	20	2113	c.1985G>C	c.(1984-1986)aGa>aCa	p.R662T	CLCNKA_ENST00000331433.4_Missense_Mutation_p.R663T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R662T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R620T|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	663	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCGCGGGGCAGAGCTGTGGGC	0.607											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	163					0	0	0	0	C	16359723	G	C	16359723	3	2	469	1	0	0	0	0	1	0	0	0	3499	942	33	2	2058	2	CLCNKA	1	16359723	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	5279188	16359723	232890898	2	90845											
PINK1	65018	broad.mit.edu	37	chr1	20971160	20971162	+	In_Frame_Del	DEL	GAA	GAA	-																															cggacgctgttcctcgttatGaagaagtaagtgacagcagc																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:20971160_20971162delGAA	ENST00000321556.4	+	4	1048_1050	c.954_956delGAA	c.(952-957)atg>at	p.MK318del	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	318	Protein kinase.		M -> L.		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCGTTATGAAGAAGTAAGTG	0.626													11	41	---	---	---	---					-	20971162	GAA	-	20971160	7	5	469	1	0	1	0	1	0	0	0	0	12004	1290	45	0	968	0	PINK1	1	20971160	In_Frame_Del	DEL	GAA	TCGA-P3-A6T7-01A-11D-A34J-08	4611437	20971160	228279461	3	90846											
MANEAL	149175	broad.mit.edu	37	chr1	38265656	38265656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaatggcaagtactatgaGacggccctgcaggcggccct	9	7	13	12	2	1	1	1	1	0	1	1	2	1	1	2	4	2	3	2	4	4	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:38265656G>C	ENST00000373045.6	+	4	1536	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000329006.5_Missense_Mutation_p.E163D|MANEAL_ENST00000525897.1_Missense_Mutation_p.E191D|RP11-109P14.9_ENST00000433474.1_RNA	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	385						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTACTATGAGACGGCCCTGC	0.567													24	64					0	0	0	0	C	38265656	G	C	38265656	3	2	469	1	0	0	0	0	1	0	0	0	9291	933	33	2	1169	2	MANEAL	1	38265656	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	17294496	38265656	210984965	4	90847											
CYP4A22	284541	broad.mit.edu	37	chr1	47610489	47610489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggccttgctggtgtTcaggatggaattgtttcagg	6	13	14	8	0	2	0	2	0	0	0	2	2	2	2	2	5	2	3	2	5	1	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:47610489T>C	ENST00000371890.3	+	7	811	c.775T>C	c.(775-777)Tca>Cca	p.S259P	CYP4A22_ENST00000371891.3_Intron|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Intron			Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	0						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCTGGTGTTCAGGATGGAA	0.592													3	21					0	0	0	0	C	47610489	T	C	47610489	3	2	469	1	0	0	0	0	1	0	0	0	4216	1798	62	5		5	CYP4A22	1	47610489	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	9344833	47610489	201640132	5	90848											
EPS15	2060	broad.mit.edu	37	chr1	51906049	51906049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactatttcattgttaagaGtatctagttccttaatagca	13	16	5	7	0	2	1	1	0	1	1	3	1	3	1	1	0	2	4	1	0	7	9			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:51906049G>A	ENST00000371733.3	-	12	1106	c.1010C>T	c.(1009-1011)aCt>aTt	p.T337I	EPS15_ENST00000371730.2_Missense_Mutation_p.T337I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	337					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATTGTTAAGAGTATCTAGTTC	0.348			T	MLL	ALL								20	84					0	0	0	0	A	51906049	G	A	51906049	3	1	469	1	0	0	0	0	1	0	0	0	5230	1029	36	4	1834	4	EPS15	1	51906049	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	4295560	51906049	197344572	6	90849											
SLC1A7	6512	broad.mit.edu	37	chr1	53569074	53569074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccatcgctggtgcccGgctctgacttgtaaacgacc	7	10	10	14	3	2	1	1	1	1	0	3	2	2	1	3	2	3	3	3	2	2	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:53569074G>A	ENST00000371494.4	-	5	768	c.641C>T	c.(640-642)cCg>cTg	p.P214L		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	214						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCTGGTGCCCGGCTCTGACTT	0.637													3	7					0	0	0	0	A	53569074	G	A	53569074	3	1	469	1	0	0	0	0	1	0	0	0	14525	1116	39	1	1069	1	SLC1A7	1	53569074	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	1663025	53569074	195681547	7	90850											
LEPR	3953	broad.mit.edu	37	chr1	66075711	66075711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtctatgctgttcaggtgCgctgtaagaggctagatgga	9	11	14	7	1	2	2	1	0	1	2	2	3	2	3	0	3	2	5	0	3	3	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:66075711C>T	ENST00000349533.6	+	13	2019	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.R612C|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.R612C|LEPR_ENST00000371058.1_Missense_Mutation_p.R612C|LEPR_ENST00000371059.3_Missense_Mutation_p.R612C	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	612	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTCAGGTGCGCTGTAAGAG	0.413													4	186					0	0	0	0	T	66075711	C	T	66075711	3	4	469	1	0	0	0	0	1	0	0	0	8781	768	27	1	1876	1	LEPR	1	66075711	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	12506637	66075711	183174910	8	90851											
BARHL2	343472	broad.mit.edu	37	chr1	91180280	91180280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggggactctcacggctaCtcgtaatctcccggtctcct	6	10	10	15	3	3	0	1	0	3	0	7	1	3	1	2	4	1	2	2	4	2	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:91180280C>T	ENST00000370445.4	-	2	700	c.659G>A	c.(658-660)aGt>aAt	p.S220N		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	220						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCACGGCTACTCGTAATCTC	0.552													44	139					0	0	0	0	T	91180280	C	T	91180280	3	4	469	1	0	0	0	0	1	0	0	0	1318	565	20	4	512	4	BARHL2	1	91180280	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	25104569	91180280	158070341	9	90852											
CELSR2	1952	broad.mit.edu	37	chr1	109795578	109795578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccagattatgtaccaGattgtggagggcaacatccc	12	9	10	10	0	0	2	0	0	0	2	1	3	1	3	3	2	3	2	3	2	4	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:109795578G>T	ENST00000271332.3	+	1	2938	c.2877G>T	c.(2875-2877)caG>caT	p.Q959H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	959	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTATGTACCAGATTGTGGAGG	0.567													13	181					4.3838e-07	4.52371e-07	1	0	T	109795578	G	T	109795578	3	4	469	1	0	0	0	0	1	0	0	0	3251	933	33	2	2879	2	CELSR2	1	109795578	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	18615298	109795578	139455043	10	90853											
FLG	2312	broad.mit.edu	37	chr1	152275382	152275382	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaacacttccgtgctgagAgtgtctaaacccggattcac	11	10	8	12	2	2	1	1	1	1	1	3	3	3	2	2	1	3	1	2	1	3	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:152275382A>T	ENST00000368799.1	-	3	12015	c.11980T>A	c.(11980-11982)Tct>Act	p.S3994T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3994					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGCTGAGAGTGTCTAAAC	0.413									Ichthyosis				4	180					0	0	0	0	T	152275382	A	T	152275382	3	4	469	1	0	0	0	0	1	0	0	0	5967	304	11	5	209	5	FLG	1	152275382	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	42479804	152275382	96975239	11	90854											
SLAMF7	57823	broad.mit.edu	37	chr1	160720095	160720095	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacccattctctgaaggTgctgctgatgacccagattc	8	11	8	14	0	1	4	0	3	1	1	4	4	2	4	3	1	2	2	3	1	1	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:160720095T>C	ENST00000368043.3	+	4	688	c.649_splice	c.e4-1	p.G217_splice	SLAMF7_ENST00000368042.3_Splice_Site_p.G110_splice|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Splice_Site_p.G217_splice|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000458602.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	217					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTCTGAAGGTGCTGCTGATG	0.552													51	164					0	0	0	0	C	160720095	T	C	160720095	5	2	469	1	0	0	0	0	0	0	1	0	14457	1710	59	5	665	5	SLAMF7	1	160720095	Splice_Site	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	8444713	160720095	88530526	12	90855											
KIF21B	23046	broad.mit.edu	37	chr1	200969588	200969588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggccctgcggatcacctCcgaggcatcctccatggagc	6	8	11	16	2	1	0	1	0	0	0	4	3	4	2	5	4	2	1	5	4	0	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:200969588C>T	ENST00000332129.2	-	11	1931	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	KIF21B_ENST00000461742.2_Missense_Mutation_p.E539K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E539K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E539K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	539					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGGATCACCTCCGAGGCATCC	0.677													35	112					0	0	0	0	T	200969588	C	T	200969588	3	4	469	1	0	0	0	0	1	0	0	0	8340	864	30	2	3355	2	KIF21B	1	200969588	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	40249493	200969588	48281033	13	90856											
FLVCR1	28982	broad.mit.edu	37	chr1	213068340	213068340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagcattaatcaagtCtgatctgcgaagacacaaca	14	11	7	9	1	4	2	2	1	2	1	4	3	4	2	0	0	3	2	0	0	4	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:213068340C>A	ENST00000366971.4	+	9	1736	c.1538C>A	c.(1537-1539)tCt>tAt	p.S513Y	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	513					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTAATCAAGTCTGATCTGCGA	0.299													56	243					2.18419e-29	2.40758e-29	1	0	A	213068340	C	A	213068340	3	1	469	1	0	0	0	0	1	0	0	0	5990	913	32	2	1572	2	FLVCR1	1	213068340	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	12098752	213068340	36182281	14	90857											
OR2T2	401992	broad.mit.edu	37	chr1	248616203	248616203	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaatagtcttctccatCtttgtggtggctataacagc	8	16	8	9	0	3	0	0	0	3	0	4	0	3	0	1	2	3	2	1	2	4	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:248616203C>A	ENST00000342927.3	+	1	127	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I35M(1)|p.I35I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCCATCTTTGTGGTGG	0.532													26	197					3.01185e-09	3.15837e-09	1	0	A	248616203	C	A	248616203	2	1	469	1	0	0	0	0	0	0	0	1	11091	903	32	2		2	OR2T2	1	248616203	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	35547863	248616203	634418	15	90858											
APLF	200558	broad.mit.edu	37	chr2	68765185	68765185	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagctgttctgaaaattgttCgagtgcccagggcgactcac	9	10	12	10	2	2	1	1	1	1	0	3	4	2	1	1	1	2	3	1	1	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:68765185C>G	ENST00000303795.4	+	7	1157	c.986C>G	c.(985-987)tCg>tGg	p.S329W	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	329					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GAAAATTGTTCGAGTGCCCAG	0.428													17	61					0	0	0	0	G	68765185	C	G	68765185	3	3	469	1	0	0	0	0	1	0	0	0	777	893	31	3	1012	3	APLF	2	68765185	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08		68765185	174434188	16	90859											
TTN	7273	broad.mit.edu	37	chr2	179479225	179479225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaccacagcagtggccCggccacacacattcacagcc	10	5	7	19	1	1	0	1	0	0	0	2	0	2	0	5	2	2	1	5	2	0	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:179479225C>T	ENST00000589042.1	-	261	49240	c.49016G>A	c.(49015-49017)cGg>cAg	p.R16339Q	TTN_ENST00000591111.1_Missense_Mutation_p.R14698Q|TTN_ENST00000460472.2_Missense_Mutation_p.R7274Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7466Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7399Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13771Q|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14698	Ig-like 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAGTGGCCCGGCCACACAC	0.398													13	35					0	0	0	0	T	179479225	C	T	179479225	3	4	469	1	0	0	0	0	1	0	0	0	16831	652	23	1	59085	1	TTN	2	179479225	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	110714040	179479225	63720148	17	90860											
TTN	7273	broad.mit.edu	37	chr2	179594238	179594238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcacactccagctccacGtcactatattttactacctc	10	13	2	16	1	2	0	2	0	0	0	5	0	4	0	3	0	3	1	3	0	4	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:179594238G>A	ENST00000589042.1	-	64	18869	c.18645C>T	c.(18643-18645)gaC>gaT	p.D6215D	TTN_ENST00000591111.1_Silent_p.D5898D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.D4971D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5898	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCTCCACGTCACTATATT	0.453													55	63					0	0	0	0	A	179594238	G	A	179594238	2	1	469	1	0	0	0	0	0	0	0	1	16831	1136	40	1		1	TTN	2	179594238	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	115013	179594238	63605135	18	90861											
USP37	57695	broad.mit.edu	37	chr2	219324528	219324528	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacctcagcatttcttttCagttcctcagcttcagcttc	7	17	4	13	0	5	0	4	0	1	0	7	0	6	0	2	0	4	4	2	0	1	7	rs148183468		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:219324528C>G	ENST00000258399.3	-	23	3040	c.2628G>C	c.(2626-2628)ctG>ctC	p.L876L	USP37_ENST00000415516.1_Silent_p.L782L|USP37_ENST00000418019.1_Silent_p.L876L|USP37_ENST00000454775.1_Silent_p.L876L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	876					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CATTTCTTTTCAGTTCCTCAG	0.413													40	60					0	0	0	0	G	219324528	C	G	219324528	2	3	469	1	0	0	0	0	0	0	0	1	17164	813	29	2		2	USP37	2	219324528	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	39730290	219324528	23874845	19	90862											
SPHKAP	80309	broad.mit.edu	37	chr2	228886587	228886587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaccagttccagaccaatCagaaatttgttgatttcaaa	14	12	6	9	0	2	3	2	1	0	2	3	3	3	3	3	0	1	3	3	0	3	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:228886587C>T	ENST00000392056.3	-	6	583	c.537G>A	c.(535-537)ctG>ctA	p.L179L	SPHKAP_ENST00000344657.5_Silent_p.L179L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	179						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCAGACCAATCAGAAATTTGT	0.458													68	53					0	0	0	0	T	228886587	C	T	228886587	2	4	469	1	0	0	0	0	0	0	0	1	15138	813	29	2		2	SPHKAP	2	228886587	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	9562059	228886587	14312786	20	90863											
CHRNG	1146	broad.mit.edu	37	chr2	233410327	233410327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatgctctcgctcttcatCtgtggcacagctggcatctt	5	13	9	14	1	5	0	1	0	4	0	6	0	5	0	1	2	2	5	1	2	0	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:233410327C>G	ENST00000389494.3	+	12	1476	c.1455C>G	c.(1453-1455)atC>atG	p.I485M	CHRNG_ENST00000389492.3_Missense_Mutation_p.I433M	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	485					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CGCTCTTCATCTGTGGCACAG	0.637													39	32					0	0	0	0	G	233410327	C	G	233410327	3	3	469	1	0	0	0	0	1	0	0	0	3425	903	32	2	1501	2	CHRNG	2	233410327	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	4523740	233410327	9789046	21	90864											
CHRNG	1146	broad.mit.edu	37	chr2	233410351	233410351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacagctggcatcttcctCatggcccactacaaccgggt	8	8	10	15	1	2	0	1	0	1	0	3	0	3	0	3	4	3	3	3	4	2	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:233410351C>T	ENST00000389494.3	+	12	1500	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	CHRNG_ENST00000389492.3_Silent_p.L441L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	493					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCATCTTCCTCATGGCCCACT	0.627													46	30					0	0	0	0	T	233410351	C	T	233410351	2	4	469	1	0	0	0	0	0	0	0	1	3425	813	29	2		2	CHRNG	2	233410351	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	24	233410351	9789022	22	90865											
HES6	55502	broad.mit.edu	37	chr2	239147933	239147933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagagccgcgtcccgcgcGgtgagcggcgactgcgtggc	5	4	19	13	8	0	2	0	1	0	1	1	5	1	2	2	3	3	0	2	3	0	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:239147933G>T	ENST00000409160.3	-	3	577	c.445C>A	c.(445-447)Cgc>Agc	p.R149S	HES6_ENST00000409574.1_Intron|HES6_ENST00000409356.1_Intron|HES6_ENST00000409182.1_Intron|HES6_ENST00000409002.3_Intron|HES6_ENST00000272937.5_Intron|AC096574.4_ENST00000456601.1_RNA	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	0					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CGTCCCGCGCGGTGAGCGGCG	0.771													5	11					4.096e-09	4.27217e-09	1	0	T	239147933	G	T	239147933	3	4	469	1	0	0	0	0	1	0	0	0	7120	1131	39	3		3	HES6	2	239147933	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	5737582	239147933	4051440	23	90866											
THAP4	51078	broad.mit.edu	37	chr2	242572703	242572703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggcttctgcggtgtcgcgGtaagtgatgagctgggaggg	7	9	19	6	3	1	2	0	2	1	0	2	3	1	3	0	5	2	3	0	5	2	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:242572703G>A	ENST00000407315.1	-	2	1300	c.869C>T	c.(868-870)aCc>aTc	p.T290I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	290							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CGGTGTCGCGGTAAGTGATGA	0.657													4	119					0	0	0	0	A	242572703	G	A	242572703	3	1	469	1	0	0	0	0	1	0	0	0	15940	1261	44	4	892	4	THAP4	2	242572703	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	3424770	242572703	626670	24	90867											
KIF15	56992	broad.mit.edu	37	chr3	44844448	44844448	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaactagaaaaagcttTctctgaaataagtggcatgg	16	10	9	6	0	1	2	0	1	1	1	2	2	1	2	0	2	3	3	0	2	7	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:44844448T>G	ENST00000326047.4	+	14	1801	c.1652T>G	c.(1651-1653)tTc>tGc	p.F551C	KIF15_ENST00000425755.1_Missense_Mutation_p.F186C	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	551					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAAGCTTTCTCTGAAATA	0.388													30	41					0	0	0	0	G	44844448	T	G	44844448	3	3	469	1	0	0	0	0	1	0	0	0	8328	1783	62	5	1706	5	KIF15	3	44844448	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08		44844448	153177982	25	90868											
EPHA3	2042	broad.mit.edu	37	chr3	89391076	89391076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatgcagcccaaatgtccGcttcctccctcgacagtttg	7	10	8	16	2	0	0	0	0	0	0	4	1	3	0	5	0	2	3	5	0	1	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:89391076G>A	ENST00000336596.2	+	5	1367	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	EPHA3_ENST00000452448.2_Missense_Mutation_p.R381H|EPHA3_ENST00000494014.1_Missense_Mutation_p.R381H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	381	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.R381H(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCAAATGTCCGCTTCCTCCCT	0.483										TSP Lung(6;0.00050)			54	83					0	0	0	0	A	89391076	G	A	89391076	3	1	469	1	0	0	0	0	1	0	0	0	5206	1087	38	1	1160	1	EPHA3	3	89391076	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	44546628	89391076	108631354	26	90869											
EPHA3	2042	broad.mit.edu	37	chr3	89457269	89457269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaaagacttcattttGgcaatgggcattgtaagttt	14	14	9	4	0	1	2	1	1	0	1	1	2	1	2	0	2	0	4	0	2	5	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:89457269G>T	ENST00000336596.2	+	9	1975	c.1750G>T	c.(1750-1752)Ggc>Tgc	p.G584C	EPHA3_ENST00000494014.1_Missense_Mutation_p.G584C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	584						extracellular region|integral to plasma membrane	ATP binding	p.G584S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACTTCATTTTGGCAATGGGCA	0.358										TSP Lung(6;0.00050)			34	166					1.836e-18	2.00104e-18	1	0	T	89457269	G	T	89457269	3	4	469	1	0	0	0	0	1	0	0	0	5206	1348	47	4	1810	4	EPHA3	3	89457269	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	66193	89457269	108565161	27	90870											
ABI3BP	25890	broad.mit.edu	37	chr3	100566448	100566448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacatatcattattacccGgtgttgtccatgtaggttca	10	14	9	8	1	2	0	2	0	0	0	3	1	3	1	2	3	1	3	2	3	4	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:100566448G>A	ENST00000471714.1	-	19	1776	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P556L|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P507L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	507	Pro-rich.					extracellular space		p.P556Q(1)|p.P508L(1)|p.P508Q(1)		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						ATTATTACCCGGTGTTGTCCA	0.373													85	117					0	0	0	0	A	100566448	G	A	100566448	3	1	469	1	0	0	0	0	1	0	0	0	91	1116	39	1	1783	1	ABI3BP	3	100566448	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	11109179	100566448	97455982	28	90871											
KIAA1407	57577	broad.mit.edu	37	chr3	113721347	113721347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctctgccaagatccGcctacattcagctcgttgaa	8	13	6	14	2	3	2	1	1	2	1	6	2	4	2	3	0	3	2	3	0	3	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:113721347G>A	ENST00000295878.3	-	12	2163	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	673										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAAGATCCGCCTACATTCA	0.328													15	74					0	0	0	0	A	113721347	G	A	113721347	3	1	469	1	0	0	0	0	1	0	0	0	8280	1086	38	1	817	1	KIAA1407	3	113721347	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	13154899	113721347	84301083	29	90872											
STXBP5L	9515	broad.mit.edu	37	chr3	120976119	120976119	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcttcaaggagtcttTctgggagcactaacactgtt	8	15	8	10	0	4	0	1	0	3	0	5	2	5	2	1	2	2	2	1	2	2	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:120976119T>A	ENST00000273666.6	+	17	2042	c.1771T>A	c.(1771-1773)Tct>Act	p.S591T	STXBP5L_ENST00000472879.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S591T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	591					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAGGAGTCTTTCTGGGAGCAC	0.403													28	184					0	0	0	0	A	120976119	T	A	120976119	3	1	469	1	0	0	0	0	1	0	0	0	15447	1783	62	5	1833	5	STXBP5L	3	120976119	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	7254772	120976119	77046311	30	90873											
TPRA1	131601	broad.mit.edu	37	chr3	127292391	127292391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatggccttccagcgctcGctgtctgtgctgttgatgct	3	15	12	11	2	1	2	0	2	1	0	3	2	2	2	2	1	3	5	2	1	0	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:127292391G>A	ENST00000355552.3	-	11	1471	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	TPRA1_ENST00000489960.1_Silent_p.S365S|TPRA1_ENST00000450633.2_Silent_p.S365S|TPRA1_ENST00000296210.7_3'UTR	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	365					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TCCAGCGCTCGCTGTCTGTGC	0.657													16	70					0	0	0	0	A	127292391	G	A	127292391	2	1	469	1	0	0	0	0	0	0	0	1	16512	1078	38	1		1	TPRA1	3	127292391	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	6316272	127292391	70730039	31	90874											
RNF7	9616	broad.mit.edu	37	chr3	141457317	141457317	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgtggagctgggacgTggagtgcgatacgtgcgcca	7	7	18	9	4	0	0	0	0	0	0	0	4	0	3	2	4	4	1	2	4	1	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:141457317T>A	ENST00000273480.3	+	1	272	c.134T>A	c.(133-135)gTg>gAg	p.V45E	RNF7_ENST00000480908.1_Missense_Mutation_p.V45E|RNF7_ENST00000393000.3_Missense_Mutation_p.V45E	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	45					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						AGCTGGGACGTGGAGTGCGAT	0.672											OREG0015854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	0	0	A	141457317	T	A	141457317	3	1	469	1	0	0	0	0	1	0	0	0	13584	1696	59	5	136	5	RNF7	3	141457317	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	14164926	141457317	56565113	32	90875											
MUC4	4585	broad.mit.edu	37	chr3	195511286	195511286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggatgctgaggaagcgtCggtgacaggaagaggggtgg	9	7	21	4	2	0	3	0	2	0	1	1	6	0	6	0	7	2	1	0	7	2	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:195511286C>T	ENST00000463781.3	-	2	7624	c.7165G>A	c.(7165-7167)Gac>Aac	p.D2389N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2389N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGCGTCGGTGACAGGA	0.597													3	11					0	0	0	0	T	195511286	C	T	195511286	3	4	469	1	0	0	0	0	1	0	0	0	10048	884	31	1		1	MUC4	3	195511286	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	54053969	195511286	2511144	33	90876											
PIGZ	80235	broad.mit.edu	37	chr3	196678695	196678695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacatgcggagttttacctgCcatcacctcaggggactgga	9	9	11	12	1	2	0	2	0	0	0	2	3	2	3	3	4	3	1	3	4	1	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:196678695C>T	ENST00000412723.1	-	2	354	c.208G>A	c.(208-210)Gca>Aca	p.A70T	PIGZ_ENST00000443835.1_Missense_Mutation_p.A70T	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	70					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GTTTTACCTGCCATCACCTCA	0.577													18	23					0	0	0	0	T	196678695	C	T	196678695	3	4	469	1	0	0	0	0	1	0	0	0	11977	739	26	4	1539	4	PIGZ	3	196678695	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	1167409	196678695	1343735	34	90877											
GPRIN3	285513	broad.mit.edu	37	chr4	90170208	90170208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctcttgttcaaaatGctcaggagcacggctttcct	8	12	9	12	1	3	0	2	0	1	0	4	1	4	1	1	2	4	6	1	2	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:90170208G>C	ENST00000333209.3	-	2	1572	c.1054C>G	c.(1054-1056)Cat>Gat	p.H352D		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	352										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTTCAAAATGCTCAGGAGCA	0.587													17	73					0	0	0	0	C	90170208	G	C	90170208	3	2	469	1	0	0	0	0	1	0	0	0	6781	1319	46	4	1280	4	GPRIN3	4	90170208	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		90170208	100984068	35	90878											
LEF1	51176	broad.mit.edu	37	chr4	108985490	108985500	+	Splice_Site	DEL	ACCTGATGCAG	ACCTGATGCAG	-																															tggaaagtctcatggtgcctAcctgatgcagattcctgtag																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:108985490_108985500delACCTGATGCAG	ENST00000379951.2	-	9	2261_2270	c.1081_splice	c.e9+1	p.358_splice	LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000265165.1_Splice_Site_p.386_splice|LEF1_ENST00000438313.2_Splice_Site_p.358_splice|LEF1_ENST00000510624.1_Splice_Site_p.290_splice	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	386					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CATGGTGCCTACCTGATGCAGATTCCTGTAG	0.431													8	108	---	---	---	---					-	108985500	ACCTGATGCAG	-	108985490	8	5	469	1	0	1	0	1	0	0	1	0	8767	405	14	0	124	0	LEF1	4	108985490	Splice_Site	DEL	ACCTGATGCAG	TCGA-P3-A6T7-01A-11D-A34J-08	18815282	108985490	82168786	36	90879											
SEC24D	9871	broad.mit.edu	37	chr4	119659453	119659465	+	Frame_Shift_Del	DEL	TAACATGCCAACA	TAACATGCCAACA	-																															gacttgcacaattcttccggTaacatgccaacatatgggca																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:119659453_119659465delTAACATGCCAACA	ENST00000379735.5	-	19	2721_2733	c.2450_2462delTGTTGGCATGTTA	c.(2449-2463)acfs	p.MLACY817fs	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.MLACY447fs|SEC24D_ENST00000419654.2_Frame_Shift_Del_p.MLACY372fs|SEC24D_ENST00000280551.6_Frame_Shift_Del_p.MLACY816fs|SEC24D_ENST00000429811.2_Frame_Shift_Del_p.MLACY372fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	816					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATTCTTCCGGTAACATGCCAACATATGGGCAGT	0.423													19	98	---	---	---	---					-	119659465	TAACATGCCAACA	-	119659453	7	5	469	1	0	1	0	1	0	0	0	0	14084	1638	57	0	659	0	SEC24D	4	119659453	Frame_Shift_Del	DEL	TAACATGCCAACA	TCGA-P3-A6T7-01A-11D-A34J-08	10673963	119659453	71494823	37	90880											
FBXW7	55294	broad.mit.edu	37	chr4	153271277	153271277	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtccaactttcttttcatCtataaggtaaaacaaacaag	15	13	5	8	0	3	0	1	0	2	0	4	0	4	0	1	2	3	1	1	2	7	6	rs13146842		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:153271277C>G	ENST00000281708.4	-	3	1731		c.e3-1		FBXW7_ENST00000603548.1_Splice_Site|FBXW7_ENST00000603841.1_Splice_Site|FBXW7_ENST00000263981.5_Splice_Site|FBXW7_ENST00000296555.5_Splice_Site	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTCTTTTCATCTATAAGGTAA	0.289			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								11	29					0	0	0	0	G	153271277	C	G	153271277	5	3	469	1	0	0	0	0	0	0	1	0	5814	927	32	2	1662	2	FBXW7	4	153271277	Splice_Site	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	33611824	153271277	37882999	38	90881											
FHDC1	85462	broad.mit.edu	37	chr4	153897628	153897628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagcccccggcatcactcGgacagtgtcgcagcggcagc	9	4	12	16	4	1	0	1	0	0	0	3	1	1	1	2	3	3	3	2	3	1	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:153897628G>A	ENST00000511601.1	+	12	3373	c.3185G>A	c.(3184-3186)cGg>cAg	p.R1062Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1062Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1062					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGCATCACTCGGACAGTGTCG	0.657													9	73					0	0	0	0	A	153897628	G	A	153897628	3	1	469	1	0	0	0	0	1	0	0	0	5921	1116	39	1	3227	1	FHDC1	4	153897628	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	626351	153897628	37256648	39	90882											
C4orf45	152940	broad.mit.edu	37	chr4	159894346	159894346	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctggcaagcttctatttGaggcaggcctccataaatat	10	13	9	9	0	1	1	0	1	1	0	2	1	2	1	2	3	2	4	2	3	5	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:159894346G>C	ENST00000434826.2	-	2	266	c.182C>G	c.(181-183)tCa>tGa	p.S61*	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	61										large_intestine(2)|lung(3)	5						GCTTCTATTTGAGGCAGGCCT	0.388													19	32					0	0	0	0	C	159894346	G	C	159894346	4	2	469	1	0	0	0	0	0	1	0	0	2294	1294	45	2	394	2	C4orf45	4	159894346	Nonsense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	5996718	159894346	31259930	40	90883											
BRD9	65980	broad.mit.edu	37	chr5	881268	881268	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accacgctgtagagcaggctCccgtccccgttcctcttcag	6	9	9	17	3	2	1	1	0	1	1	5	1	5	1	5	1	1	5	5	1	1	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:881268C>G	ENST00000323510.4	-	6	707	c.708G>C	c.(706-708)ggG>ggC	p.G236G	BRD9_ENST00000483173.1_Silent_p.G279G|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000435709.2_Intron|BRD9_ENST00000467963.1_Silent_p.G332G|BRD9_ENST00000388890.4_Silent_p.G216G			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	332							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGAGCAGGCTCCCGTCCCCGT	0.602													5	27					0	0	0	0	G	881268	C	G	881268	2	3	469	1	0	0	0	0	0	0	0	1	1515	842	30	2		2	BRD9	5	881268	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08		881268	180033992	41	90884											
GFM2	84340	broad.mit.edu	37	chr5	74026194	74026195	+	Frame_Shift_Ins	INS	-	-	T																															gatcatgaataatctctataINStgtaactcccccataccaca																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:74026194_74026195insT	ENST00000296805.3	-	17	2073_2074	c.1616_1617insA	c.(1615-1617)catfs	p.H539fs	GFM2_ENST00000345239.2_Frame_Shift_Ins_p.H492fs|GFM2_ENST00000509430.1_Frame_Shift_Ins_p.H539fs|GFM2_ENST00000515125.1_Intron	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	539					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAATCTCTATATGTAACTCCCC	0.386													18	72	---	---	---	---					T	74026195	-	T	74026194	7	5	469	1	0	1	1	0	0	0	0	0	6393	446	16	0	742	0	GFM2	5	74026194	Frame_Shift_Ins	INS	-	TCGA-P3-A6T7-01A-11D-A34J-08	73144926	74026194	106889066	42	90885											
PCDHA8	56140	broad.mit.edu	37	chr5	140222296	140222296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgagtacacggtgttcGtgaaggagaacaacccgccg	11	5	13	12	5	0	2	0	1	0	1	1	4	0	2	3	2	4	2	3	2	4	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140222296G>A	ENST00000531613.1	+	1	1390	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V464M|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1												p.V464M(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTTCGTGAAGGAGAA	0.662													28	89					0	0	0	0	A	140222296	G	A	140222296	3	1	469	1	0	0	0	0	1	0	0	0	11601	1145	40	1	1392	1	PCDHA8	5	140222296	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	66196102	140222296	40692964	43	90886											
PCDHB3	56132	broad.mit.edu	37	chr5	140480964	140480964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcaccagaatttgcacAgccgctctatgaggttgcag	11	9	10	11	1	1	2	0	1	1	1	1	2	1	2	2	1	4	5	2	1	3	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140480964A>G	ENST00000231130.2	+	1	731	c.731A>G	c.(730-732)cAg>cGg	p.Q244R	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		244					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATTTGCACAGCCGCTCTAT	0.507													29	87					0	0	0	0	G	140480964	A	G	140480964	3	3	469	1	0	0	0	0	1	0	0	0	11614	188	7	5	733	5	PCDHB3	5	140480964	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	258668	140480964	40434296	44	90887											
PCDHB12	56124	broad.mit.edu	37	chr5	140590690	140590690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctttccaggacatctggtGgacgtgagtggcaccgggac	7	8	14	12	2	1	1	0	1	1	0	2	4	2	4	3	5	0	1	3	5	0	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140590690G>A	ENST00000239450.2	+	1	2400	c.2211G>A	c.(2209-2211)gtG>gtA	p.V737V	PCDHB12_ENST00000541609.1_Silent_p.V400V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		737					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			GACATCTGGTGGACGTGAGTG	0.607													36	144					0	0	0	0	A	140590690	G	A	140590690	2	1	469	1	0	0	0	0	0	0	0	1	11608	1335	47	4		4	PCDHB12	5	140590690	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	109726	140590690	40324570	45	90888											
GABRA1	2554	broad.mit.edu	37	chr5	161309610	161309610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatggaccagagagccAgcacgctcagtggttgtagc	11	8	13	9	1	1	2	1	1	0	1	1	4	1	3	2	2	3	4	2	2	3	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:161309610A>G	ENST00000428797.2	+	8	961	c.606A>G	c.(604-606)ccA>ccG	p.P202P	GABRA1_ENST00000444819.1_Silent_p.P202P|GABRA1_ENST00000023897.6_Silent_p.P202P|GABRA1_ENST00000420560.1_Silent_p.P202P|GABRA1_ENST00000393943.4_Silent_p.P202P|GABRA1_ENST00000437025.2_Silent_p.P202P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	202					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCAGAGAGCCAGCACGCTCAG	0.398													23	60					0	0	0	0	G	161309610	A	G	161309610	2	3	469	1	0	0	0	0	0	0	0	1	6208	175	7	5		5	GABRA1	5	161309610	Silent	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	20718920	161309610	19605650	46	90889											
GABRG2	2566	broad.mit.edu	37	chr5	161524737	161524737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgattgaacagcaacAtggtggggaaaatctggatt	12	10	11	8	1	1	1	0	1	1	0	3	4	3	3	2	4	3	1	2	4	4	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:161524737A>G	ENST00000356592.3	+	4	881	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	GABRG2_ENST00000393933.4_Missense_Mutation_p.M46V|GABRG2_ENST00000361925.4_Missense_Mutation_p.M141V|GABRG2_ENST00000414552.2_Missense_Mutation_p.M141V	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	141					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAACAGCAACATGGTGGGGAA	0.403													32	83					0	0	0	0	G	161524737	A	G	161524737	3	3	469	1	0	0	0	0	1	0	0	0	6220	217	8	5	435	5	GABRG2	5	161524737	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	215127	161524737	19390523	47	90890											
DDX41	51428	broad.mit.edu	37	chr5	176942237	176942237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgggtggtgaatgcctttCttcttcaggcctctcaggat	5	15	12	9	0	4	1	2	1	3	0	5	2	4	2	2	4	1	1	2	4	1	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:176942237C>G	ENST00000507955.1	-	7	1117	c.594G>C	c.(592-594)aaG>aaC	p.K198N	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	198					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAATGCCTTTCTTCTTCAGGC	0.532													32	101					0	0	0	0	G	176942237	C	G	176942237	3	3	469	1	0	0	0	0	1	0	0	0	4393	912	32	2	1318	2	DDX41	5	176942237	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	15417500	176942237	3973023	48	90891											
NFKBIL1	4795	broad.mit.edu	37	chr6	31525422	31525422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctacaccgatttcttcCtcccgctgctaagccgctgt	6	11	7	17	3	1	0	0	0	1	0	3	1	3	0	5	0	4	3	5	0	2	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:31525422C>T	ENST00000376148.4	+	3	466	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.L118F	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	118					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGATTTCTTCCTCCCGCTGCT	0.587													9	29					0	0	0	0	T	31525422	C	T	31525422	3	4	469	1	0	0	0	0	1	0	0	0	10451	681	24	4	362	4	NFKBIL1	6	31525422	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08		31525422	139589645	49	90892											
KCNK5	8645	broad.mit.edu	37	chr6	39161971	39161971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagtcaccgaagccgatgGtggagatggtgatgaaggag	13	6	16	6	2	1	3	1	2	0	1	1	7	1	4	2	4	1	0	2	4	3	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:39161971G>T	ENST00000359534.3	-	4	946	c.608C>A	c.(607-609)aCc>aAc	p.T203N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	203					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GAAGCCGATGGTGGAGATGGT	0.552													15	64					4.14922e-12	4.44723e-12	1	0	T	39161971	G	T	39161971	3	4	469	1	0	0	0	0	1	0	0	0	8122	1261	44	4	899	4	KCNK5	6	39161971	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	7636549	39161971	131953096	50	90893											
MDFI	4188	broad.mit.edu	37	chr6	41621152	41621152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtggctcctgcagcTcggaggactcgtgcctctgc	4	9	12	16	2	1	0	0	0	1	0	4	2	2	2	4	3	4	3	4	3	0	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:41621152T>A	ENST00000373050.4	+	4	584	c.397T>A	c.(397-399)Tcg>Acg	p.S133T				Q99750	MDFI_HUMAN	MyoD family inhibitor	194					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CTCCTGCAGCTCGGAGGACTC	0.647													24	109					0	0	0	0	A	41621152	T	A	41621152	3	1	469	1	0	0	0	0	1	0	0	0	9473	1551	54	5	594	5	MDFI	6	41621152	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	2459181	41621152	129493915	51	90894											
CUL9	23113	broad.mit.edu	37	chr6	43152524	43152524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcatcgggcccctcaCtggtgtcttcagggagacag	7	7	13	14	2	3	1	2	0	1	1	4	2	3	1	3	3	1	1	3	3	0	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:43152524C>G	ENST00000252050.4	+	2	560	c.476C>G	c.(475-477)aCt>aGt	p.T159S	CUL9_ENST00000354495.3_Missense_Mutation_p.T159S|CUL9_ENST00000372647.2_Missense_Mutation_p.T159S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	159					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGCCCCTCACTGGTGTCTTC	0.622													19	49					0	0	0	0	G	43152524	C	G	43152524	3	3	469	1	0	0	0	0	1	0	0	0	4093	565	20	4	478	4	CUL9	6	43152524	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	1531372	43152524	127962543	52	90895											
TTBK1	84630	broad.mit.edu	37	chr6	43230606	43230606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgtcagtggacacaGgccacgctgaccgacaggcc	10	5	13	13	2	1	2	1	1	0	1	1	4	1	3	3	3	1	2	3	3	0	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:43230606G>A	ENST00000259750.4	+	13	1587	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	TTBK1_ENST00000304139.5_Missense_Mutation_p.G451S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	502						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGTGGACACAGGCCACGCTGA	0.677													7	16					0	0	0	0	A	43230606	G	A	43230606	3	1	469	1	0	0	0	0	1	0	0	0	16772	1000	35	4	1550	4	TTBK1	6	43230606	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	78082	43230606	127884461	53	90896											
TDRD6	221400	broad.mit.edu	37	chr6	46658913	46658913	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattttagaacagttgtcAtgtagtattacacaattaag	16	15	6	4	0	1	1	1	0	0	1	1	1	1	1	0	0	2	3	0	0	9	8			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:46658913A>G	ENST00000544460.1	+	1	3302	c.3048A>G	c.(3046-3048)tcA>tcG	p.S1016S	TDRD6_ENST00000316081.6_Silent_p.S1016S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1016					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AACAGTTGTCATGTAGTATTA	0.348													29	93					0	0	0	0	G	46658913	A	G	46658913	2	3	469	1	0	0	0	0	0	0	0	1	15828	204	8	5		5	TDRD6	6	46658913	Silent	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	3428307	46658913	124456154	54	90897											
DST	667	broad.mit.edu	37	chr6	56437563	56437563	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgcatatactgagacaaTtcagtaacatcttttcctgg	12	13	6	10	0	2	1	1	1	1	1	3	2	3	1	2	1	3	2	2	1	4	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:56437563T>C	ENST00000370754.5	-	52	13442	c.13443A>G	c.(13441-13443)gaA>gaG	p.E4481E	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.E4303E|DST_ENST00000361203.3_Silent_p.E4301E|DST_ENST00000446842.2_Silent_p.E3977E|DST_ENST00000244364.6_Silent_p.E1889E|DST_ENST00000370788.2_Silent_p.E2215E|DST_ENST00000421834.2_Silent_p.E2215E			Q03001	DYST_HUMAN	dystonin	4301					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGAGACAATTCAGTAACAT	0.378													12	20					0	0	0	0	C	56437563	T	C	56437563	2	2	469	1	0	0	0	0	0	0	0	1	4819	1490	52	5		5	DST	6	56437563	Silent	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	9778650	56437563	114677504	55	90898											
PHF3	23469	broad.mit.edu	37	chr6	64421225	64421225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgggtgccacagataaaAttccacaccctcttgtgcct	9	12	7	13	0	1	1	0	0	1	1	2	1	2	1	4	1	2	0	4	1	2	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:64421225A>G	ENST00000262043.3	+	15	4304	c.3964A>G	c.(3964-3966)Att>Gtt	p.I1322V	PHF3_ENST00000393387.1_Missense_Mutation_p.I1322V			Q92576	PHF3_HUMAN	PHD finger protein 3	1322					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAGATAAAATTCCACACCC	0.408													22	66					0	0	0	0	G	64421225	A	G	64421225	3	3	469	1	0	0	0	0	1	0	0	0	11908	101	4	5	4018	5	PHF3	6	64421225	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	7983662	64421225	106693842	56	90899											
EPHA7	2045	broad.mit.edu	37	chr6	93969087	93969087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttacctgcaccaatcacacGctcaattttaatacaggagg	13	10	6	12	1	2	0	2	0	0	0	2	1	2	1	2	2	3	2	2	2	5	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:93969087G>A	ENST00000369303.4	-	10	2093	c.1909C>T	c.(1909-1911)Cgt>Tgt	p.R637C		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	637	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCAATCACACGCTCAATTTTA	0.428													27	94					0	0	0	0	A	93969087	G	A	93969087	3	1	469	1	0	0	0	0	1	0	0	0	5210	1087	38	1	1119	1	EPHA7	6	93969087	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	29547862	93969087	77145980	57	90900											
RNF146	81847	broad.mit.edu	37	chr6	127608113	127608116	+	Frame_Shift_Del	DEL	GAGC	GAGC	-																															atgggtggtggcagtacgatGagcgcactagtagagagctg																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:127608113_127608116delGAGC	ENST00000368314.1	+	3	779_782	c.355_358delGAGC	c.(355-360)gcfs	p.ER119fs	RNF146_ENST00000309649.3_Frame_Shift_Del_p.ER118fs|RNF146_ENST00000356799.2_Frame_Shift_Del_p.ER118fs	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	119	WWE.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GCAGTACGATGAGCGCACTAGTAG	0.426													21	105	---	---	---	---					-	127608116	GAGC	-	127608113	7	5	469	1	0	1	0	1	0	0	0	0	13533	1291	45	0	354	0	RNF146	6	127608113	Frame_Shift_Del	DEL	GAGC	TCGA-P3-A6T7-01A-11D-A34J-08	33639026	127608113	43506954	58	90901											
PEX3	8504	broad.mit.edu	37	chr6	143793343	143793343	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggacttggagcaaaaaCtaaaagaaatcagaaatctc	18	10	7	6	0	2	2	1	0	1	2	3	4	2	4	0	2	2	1	0	2	6	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:143793343C>G	ENST00000367591.4	+	8	688	c.625C>G	c.(625-627)Cta>Gta	p.L209V		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	209					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GGAGCAAAAACTAAAAGAAAT	0.338													24	82					0	0	0	0	G	143793343	C	G	143793343	3	3	469	1	0	0	0	0	1	0	0	0	11819	564	20	4	655	4	PEX3	6	143793343	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	16185230	143793343	27321724	59	90902											
PHACTR2	9749	broad.mit.edu	37	chr6	144086485	144086485	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatctcgtcccaaagcttCaaaggagacagtttctagca	12	10	7	12	1	4	1	2	0	2	1	6	2	5	1	1	1	2	3	1	1	3	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:144086485C>G	ENST00000427704.2	+	6	879	c.749C>G	c.(748-750)tCa>tGa	p.S250*	PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.S238*|PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.S261*|PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.S170*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.S181*	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	250							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCAAAGCTTCAAAGGAGACA	0.478													37	118					0	0	0	0	G	144086485	C	G	144086485	4	3	469	1	0	0	0	0	0	1	0	0	11882	838	29	2	821	2	PHACTR2	6	144086485	Nonsense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	293142	144086485	27028582	60	90903											
SYNE1	23345	broad.mit.edu	37	chr6	152757123	152757123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttgttctttgattgaCttggcctgctgttgaagcag	6	17	11	7	0	1	4	0	4	1	0	1	4	1	4	1	1	2	4	1	1	1	7			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:152757123C>G	ENST00000367255.5	-	33	4864	c.4263G>C	c.(4261-4263)aaG>aaC	p.K1421N	SYNE1_ENST00000265368.4_Missense_Mutation_p.K1421N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1421N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1421N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1411N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1487N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1421					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGATTGACTTGGCCTGCT	0.413										HNSCC(10;0.0054)			25	101					0	0	0	0	G	152757123	C	G	152757123	3	3	469	1	0	0	0	0	1	0	0	0	15536	564	20	4	22659	4	SYNE1	6	152757123	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	8670638	152757123	18357944	61	90904											
WTAP	9589	broad.mit.edu	37	chr6	160176183	160176183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtaccagcagcagcagtCtcaggcctctgccccaagta	10	7	9	15	0	3	0	2	0	2	0	4	0	3	0	4	1	5	5	4	1	3	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:160176183C>G	ENST00000358372.4	+	8	2488	c.731C>G	c.(730-732)tCt>tGt	p.S244C	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	244					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAGCAGCAGTCTCAGGCCTCT	0.527													14	33					0	0	0	0	G	160176183	C	G	160176183	3	3	469	1	0	0	0	0	1	0	0	0	17505	913	32	2	761	2	WTAP	6	160176183	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	7419060	160176183	10938884	62	90905											
PLG	5340	broad.mit.edu	37	chr6	161127524	161127524	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcagctgggagcaggaagTatagaagaatgtgcagcaaa	17	5	14	5	0	0	2	0	0	0	2	0	4	0	4	0	2	5	6	0	2	7	2	rs1049571		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:161127524T>A	ENST00000308192.9	+	2	198	c.135T>A	c.(133-135)agT>agA	p.S45R	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.S45R	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	45	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCAGGAAGTATAGAAGAAT	0.483													49	136					0	0	0	0	A	161127524	T	A	161127524	3	1	469	1	0	0	0	0	1	0	0	0	12158	1635	57	5	141	5	PLG	6	161127524	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	951341	161127524	9987543	63	90906											
NFE2L3	9603	broad.mit.edu	37	chr7	26224372	26224372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaattctcataccaccaatCctgagcaaacccttcctgga	13	10	4	14	0	1	1	1	1	1	0	4	2	3	2	5	1	3	1	5	1	5	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:26224372C>A	ENST00000056233.3	+	4	1313	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	352					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TACCACCAATCCTGAGCAAAC	0.408													35	125					6.50621e-10	6.8973e-10	1	0	A	26224372	C	A	26224372	3	1	469	1	0	0	0	0	1	0	0	0	10439	855	30	2	1068	2	NFE2L3	7	26224372	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08		26224372	132914291	64	90907											
GRM3	2913	broad.mit.edu	37	chr7	86468506	86468506	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtggcccactgcagaccTaactggatgctatgaccttc	10	9	9	13	0	0	2	0	1	0	1	1	3	0	3	3	2	3	2	3	2	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:86468506T>G	ENST00000361669.2	+	4	2775	c.1676T>G	c.(1675-1677)cTa>cGa	p.L559R	GRM3_ENST00000546348.1_Missense_Mutation_p.L151R|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.L431R|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	559					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACTGCAGACCTAACTGGATGC	0.532													31	92					0	0	0	0	G	86468506	T	G	86468506	3	3	469	1	0	0	0	0	1	0	0	0	6848	1522	53	5	1686	5	GRM3	7	86468506	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	60244134	86468506	72670157	65	90908											
CASD1	64921	broad.mit.edu	37	chr7	94184852	94184852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcagcggacacaaggggtAtcttggtactgatacctgga	10	9	14	8	1	1	1	0	1	1	0	1	3	1	3	1	6	3	3	1	6	4	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:94184852A>G	ENST00000297273.4	+	18	2463	c.2176A>G	c.(2176-2178)Atc>Gtc	p.I726V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	726						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACAAGGGGTATCTTGGTACT	0.373													31	87					0	0	0	0	G	94184852	A	G	94184852	3	3	469	1	0	0	0	0	1	0	0	0	2689	449	16	5	2246	5	CASD1	7	94184852	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	7716346	94184852	64953811	66	90909											
DLX6	1750	broad.mit.edu	37	chr7	96637143	96637143	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaggactgacacaaacacaGgtaattcccgagaagcccaa	16	6	8	11	1	0	2	0	1	0	1	1	4	1	3	2	2	2	1	2	2	5	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:96637143G>A	ENST00000518156.2	+	2	1060	c.630_splice	c.e2+1	p.Q210_splice	DLX6_ENST00000007660.5_Splice_Site_p.Q182_splice|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_Splice_Site_p.Q82_splice|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	92					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CACAAACACAGGTAATTCCCG	0.527													4	15					0	0	0	0	A	96637143	G	A	96637143	5	1	469	1	0	0	0	0	0	0	1	0	4612	1014	35	4	636	4	DLX6	7	96637143	Splice_Site	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	2452291	96637143	62501520	67	90910											
GIMAP1	170575	broad.mit.edu	37	chr7	150417607	150417607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagcaacacagagaaccGggccttgcgcgagctggtgg	9	5	16	11	4	0	2	0	1	0	1	0	4	0	2	2	3	5	2	2	3	2	1	rs142041443		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:150417607G>A	ENST00000307194.5	+	3	655	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGAGAACCGGGCCTTGCGC	0.652													22	55					0	0	0	0	A	150417607	G	A	150417607	3	1	469	1	0	0	0	0	1	0	0	0	6430	1116	39	1	521	1	GIMAP1	7	150417607	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	53780464	150417607	8721056	68	90911											
ADAM7	8756	broad.mit.edu	37	chr8	24324554	24324554	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaacaccttttattttcttGatgatgtctagggataaagt	12	16	8	5	0	2	2	0	2	2	0	2	4	2	3	1	1	1	0	1	1	5	7			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:24324554G>C	ENST00000441335.2	+	6	811	c.632G>C	c.(631-633)tGa>tCa	p.*211S	ADAM7_ENST00000380789.1_Intron|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000175238.6_Intron			Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	0	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATTTTCTTGATGATGTCTA	0.313													13	25					0	0	0	0	C	24324554	G	C	24324554	4	2	469	1	0	0	0	0	0	0	0	0	251	1305	45	2		2	ADAM7	8	24324554	Nonstop_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		24324554	122039468	69	90912											
IMPAD1	54928	broad.mit.edu	37	chr8	57892606	57892625	+	Frame_Shift_Del	DEL	GTGTAGCATCAAGTGGGTCA	GTGTAGCATCAAGTGGGTCA	-																															aaaattacctgtatattcctGtgtagcatcaagtgggtcaa																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:57892606_57892625delGTGTAGCATCAAGTGGGTCA	ENST00000262644.4	-	2	777_796	c.519_538delTGACCCACTTGATGCTACAC	c.(517-540)atagfs	p.IDPLDATQ173fs		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	173						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTATATTCCTGTGTAGCATCAAGTGGGTCAATCCAGACAG	0.391													9	86	---	---	---	---					-	57892625	GTGTAGCATCAAGTGGGTCA	-	57892606	7	5	469	1	0	1	0	1	0	0	0	0	7778	1386	48	0	557	0	IMPAD1	8	57892606	Frame_Shift_Del	DEL	GTGTAGCATCAAGTGGGTCA	TCGA-P3-A6T7-01A-11D-A34J-08	33568052	57892606	88471416	70	90913											
VPS13B	157680	broad.mit.edu	37	chr8	100182343	100182343	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgtaccagttattccctCtttcagcactgctctttatg	7	16	5	13	0	3	0	1	0	2	0	4	0	4	0	3	0	3	4	3	0	3	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:100182343C>G	ENST00000395996.1	+	16	2396	c.2285C>G	c.(2284-2286)tCt>tGt	p.S762C	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.S762C|VPS13B_ENST00000355155.1_Missense_Mutation_p.S762C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S762C			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	762					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTATTCCCTCTTTCAGCACT	0.378													51	100					0	0	0	0	G	100182343	C	G	100182343	3	3	469	1	0	0	0	0	1	0	0	0	17286	913	32	2	2385	2	VPS13B	8	100182343	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	42289737	100182343	46181679	71	90914											
PKHD1L1	93035	broad.mit.edu	37	chr8	110516713	110516713	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatttatacataggccTgatataaggtaaaatacata	20	12	5	4	0	0	1	0	1	0	0	0	1	0	1	1	2	2	1	1	2	12	10			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:110516713T>C	ENST00000378402.5	+	68	11090	c.10986T>C	c.(10984-10986)ccT>ccC	p.P3662P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3662					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACATAGGCCTGATATAAGGT	0.303										HNSCC(38;0.096)			11	22					0	0	0	0	C	110516713	T	C	110516713	2	2	469	1	0	0	0	0	0	0	0	1	12044	1567	55	5		5	PKHD1L1	8	110516713	Silent	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	10334370	110516713	35847309	72	90915											
DGAT1	8694	broad.mit.edu	37	chr8	145542404	145542404	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaatgcagccacagcaaaGacattggccgctgtggacag	12	6	13	10	1	0	1	0	0	0	1	0	3	0	3	2	3	3	3	2	3	2	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:145542404G>C	ENST00000332324.4	-	5	699	c.426C>G	c.(424-426)gtC>gtG	p.V142V	DGAT1_ENST00000531896.1_Silent_p.V142V	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	142					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCACAGCAAAGACATTGGCCG	0.627													4	24					0	0	0	0	C	145542404	G	C	145542404	2	2	469	1	0	0	0	0	0	0	0	1	4494	929	33	2		2	DGAT1	8	145542404	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	35025691	145542404	821618	73	90916											
KIAA1432	57589	broad.mit.edu	37	chr9	5765455	5765455	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggcaacatgctaccctTctattcaacacagcactaga	14	9	6	12	0	2	1	1	0	1	1	2	1	2	1	1	1	5	4	1	1	6	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:5765455T>A	ENST00000414202.2	+	20	3074	c.2883T>A	c.(2881-2883)ctT>ctA	p.L961L	KIAA1432_ENST00000381532.2_Silent_p.L882L|KIAA1432_ENST00000449720.2_Silent_p.L845L|KIAA1432_ENST00000251879.6_Silent_p.L961L|KIAA1432_ENST00000418622.3_Silent_p.L882L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	961						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATGCTACCCTTCTATTCAACA	0.418													39	247					0	0	0	0	A	5765455	T	A	5765455	2	1	469	1	0	0	0	0	0	0	0	1	8284	1770	62	5		5	KIAA1432	9	5765455	Silent	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08		5765455	135447976	74	90917											
C9orf64	84267	broad.mit.edu	37	chr9	86571389	86571389	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcaatgaatttagaggaTtccctgggatttaggagccc	10	12	11	8	0	1	2	0	1	1	1	2	5	2	5	2	3	2	1	2	3	4	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:86571389T>A	ENST00000376344.3	-	1	243	c.27A>T	c.(25-27)gaA>gaT	p.E9D	C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	9										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATTTAGAGGATTCCCTGGGAT	0.612													12	44					0	0	0	0	A	86571389	T	A	86571389	3	1	469	1	0	0	0	0	1	0	0	0	2514	1490	52	5	1014	5	C9orf64	9	86571389	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	80805934	86571389	54642042	75	90918											
RNF20	56254	broad.mit.edu	37	chr9	104314951	104314951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagaaaaagagagagattCtgctaaggataaagagaaag	20	6	12	3	0	2	4	1	0	1	4	2	8	2	5	0	1	1	1	0	1	6	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:104314951C>G	ENST00000389120.3	+	13	1907	c.1817C>G	c.(1816-1818)tCt>tGt	p.S606C		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	606					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAGAGAGATTCTGCTAAGGAT	0.408													16	70					0	0	0	0	G	104314951	C	G	104314951	3	3	469	1	0	0	0	0	1	0	0	0	13558	913	32	2	1863	2	RNF20	9	104314951	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	17743562	104314951	36898480	76	90919											
PPP6C	5537	broad.mit.edu	37	chr9	127915979	127915979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atccagtgttttgatatcagGagataaaccaccatggacac	14	10	8	9	0	1	2	1	1	0	1	2	4	2	3	3	2	1	1	3	2	3	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:127915979G>C	ENST00000451402.1	-	7	833	c.613C>G	c.(613-615)Cct>Gct	p.P205A	PPP6C_ENST00000415905.1_Missense_Mutation_p.P146A|PPP6C_ENST00000373546.3_Missense_Mutation_p.P21A|PPP6C_ENST00000373547.4_Missense_Mutation_p.P168A	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	168					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTGATATCAGGAGATAAACCA	0.373													26	63					0	0	0	0	C	127915979	G	C	127915979	3	2	469	1	0	0	0	0	1	0	0	0	12483	1174	41	2	423	2	PPP6C	9	127915979	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	23601028	127915979	13297452	77	90920											
SPTAN1	6709	broad.mit.edu	37	chr9	131394416	131394416	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgcagcgcaagcaccAggaaatccgagccatgagaa	14	3	10	14	2	0	1	0	1	0	1	1	4	1	2	5	1	4	3	5	1	3	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:131394416A>T	ENST00000358161.5	+	52	6886	c.6773A>T	c.(6772-6774)cAg>cTg	p.Q2258L	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q2258L|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q2253L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2253					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CGCAAGCACCAGGAAATCCGA	0.617													4	16					0	0	0	0	T	131394416	A	T	131394416	3	4	469	1	0	0	0	0	1	0	0	0	15207	188	7	5	6979	5	SPTAN1	9	131394416	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	3478437	131394416	9819015	78	90921											
C1QL3	389941	broad.mit.edu	37	chr10	16563017	16563017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagtgcgccgacgtgccGgccgagctcaccagcaccgg	6	5	14	16	7	1	0	1	0	0	0	2	2	1	0	5	2	4	3	5	2	1	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:16563017G>A	ENST00000298943.3	-	1	987	c.48C>T	c.(46-48)gcC>gcT	p.A16A		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	16						collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCGACGTGCCGGCCGAGCTCA	0.731													4	13					0	0	0	0	A	16563017	G	A	16563017	2	1	469	1	0	0	0	0	0	0	0	1	1979	1103	39	1		1	C1QL3	10	16563017	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		16563017	118971730	79	90922											
ANK3	288	broad.mit.edu	37	chr10	61833595	61833595	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggatgctttttggtttcTctaataatgacttcagtggg	7	18	10	6	0	3	1	1	1	2	0	4	2	3	2	0	3	1	2	0	3	2	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:61833595T>C	ENST00000280772.1	-	37	7235	c.7044A>G	c.(7042-7044)agA>agG	p.R2348R	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2348					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTGGTTTCTCTAATAATGA	0.383													38	119					0	0	0	0	C	61833595	T	C	61833595	2	2	469	1	0	0	0	0	0	0	0	1	622	1548	54	5		5	ANK3	10	61833595	Silent	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	45270578	61833595	73701152	80	90923											
CDH23	64072	broad.mit.edu	37	chr10	73406419	73406419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactgagctctccagggccGactgtggtgaggcacccaga	8	6	13	14	1	1	3	0	2	1	1	2	4	1	3	4	3	1	2	4	3	0	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:73406419G>A	ENST00000398809.4	+	14	1884	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P	CDH23_ENST00000299366.7_Intron|CDH23_ENST00000398842.3_Silent_p.P498P|CDH23_ENST00000224721.6_Intron|CDH23_ENST00000461841.3_Silent_p.P543P	NM_052836.3	NP_443068.1	Q9H251	CAD23_HUMAN	cadherin-related 23	0	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCCAGGGCCGACTGTGGTGA	0.572													41	103					0	0	0	0	A	73406419	G	A	73406419	2	1	469	1	0	0	0	0	0	0	0	1	3137	1045	37	1		1	CDH23	10	73406419	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	11572824	73406419	62128328	81	90924											
MYOZ1	58529	broad.mit.edu	37	chr10	75397615	75397615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtaagcagcgacagttcctCcaacatcacatcccttggga	11	8	9	13	1	1	0	1	0	0	0	4	2	4	1	3	2	3	3	3	2	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:75397615C>T	ENST00000359322.4	-	3	503	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	47					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GACAGTTCCTCCAACATCACA	0.493													55	155					0	0	0	0	T	75397615	C	T	75397615	3	4	469	1	0	0	0	0	1	0	0	0	10165	864	30	2	776	2	MYOZ1	10	75397615	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	1991196	75397615	60137132	82	90925											
CNNM1	26507	broad.mit.edu	37	chr10	101124216	101124216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaggaaggccttcgctttGaaaatggagcctttacttac	11	12	10	8	1	0	1	0	1	0	0	1	3	0	3	2	3	3	2	2	3	6	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:101124216G>A	ENST00000356713.4	+	5	2360	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	CNNM1_ENST00000446890.1_Missense_Mutation_p.E620K|CNNM1_ENST00000370528.3_Missense_Mutation_p.E620K|CNNM1_ENST00000370534.4_Missense_Mutation_p.E326K	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	691					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCTTCGCTTTGAAAATGGAGC	0.418													6	16					0	0	0	0	A	101124216	G	A	101124216	3	1	469	1	0	0	0	0	1	0	0	0	3642	1291	45	2	2089	2	CNNM1	10	101124216	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	25726601	101124216	34410531	83	90926											
MUC5B	727897	broad.mit.edu	37	chr11	1268538	1268538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggacttcggccacctcGggcatcttgggcaccaccca	6	7	11	17	2	1	0	0	0	1	0	3	1	1	1	5	4	0	2	5	4	0	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:1268538G>A	ENST00000447027.1	+	31	10495	c.10437G>A	c.(10435-10437)tcG>tcA	p.S3479S	MUC5B_ENST00000529681.1_Silent_p.S3476S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3476	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCACCTCGGGCATCTTGG	0.667													9	100					0	0	0	0	A	1268538	G	A	1268538	2	1	469	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC5B	11	1268538	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		1268538	133737978	84	90927											
MUC5B	727897	broad.mit.edu	37	chr11	1269173	1269173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgccctcctcaactccggGgacgacctggatcctcacaa	9	6	8	18	3	2	0	2	0	0	0	5	3	5	2	5	3	1	0	5	3	2	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:1269173G>A	ENST00000447027.1	+	31	11130	c.11072G>A	c.(11071-11073)gGg>gAg	p.G3691E	MUC5B_ENST00000529681.1_Missense_Mutation_p.G3688E|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3688	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAACTCCGGGGACGACCTGG	0.617													77	237					0	0	0	0	A	1269173	G	A	1269173	3	1	469	1	0	0	0	0	1	0	0	0	10049	1232	43	4	11194	4	MUC5B	11	1269173	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	635	1269173	133737343	85	90928											
OR51B5	282763	broad.mit.edu	37	chr11	5363939	5363939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataggcatagctcataatGaggtgaacaatatgtggaac	17	9	10	5	0	1	2	1	2	0	0	1	3	1	3	0	3	3	2	0	3	8	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:5363939G>A	ENST00000300773.2	-	1	870	c.816C>T	c.(814-816)ctC>ctT	p.L272L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTCATAATGAGGTGAACAA	0.393													14	58					0	0	0	0	A	5363939	G	A	5363939	2	1	469	1	0	0	0	0	0	0	0	1	11162	1277	45	2		2	OR51B5	11	5363939	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	4094766	5363939	129642577	86	90929											
OR56A3	390083	broad.mit.edu	37	chr11	5968905	5968905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgtacatcatgaattGtttcctagccatggagtctt	10	14	8	9	0	2	2	1	1	1	1	3	3	3	3	3	1	2	2	3	1	3	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:5968905G>T	ENST00000329564.6	+	1	336	c.329G>T	c.(328-330)tGt>tTt	p.C110F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATGAATTGTTTCCTAGCC	0.498													56	160					3.28156e-27	3.59673e-27	1	0	T	5968905	G	T	5968905	3	4	469	1	0	0	0	0	1	0	0	0	11205	1377	48	4	331	4	OR56A3	11	5968905	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	604966	5968905	129037611	87	90930											
OR10A3	26496	broad.mit.edu	37	chr11	7960925	7960925	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctggtttaaggagatgAtgactgtaatgatggcattt	10	14	13	4	0	1	4	0	3	1	1	1	5	1	4	0	4	0	4	0	4	2	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:7960925A>C	ENST00000360759.3	-	1	216	c.143T>G	c.(142-144)aTc>aGc	p.I48S		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAAGGAGATGATGACTGTAAT	0.478													27	110					0	0	0	0	C	7960925	A	C	7960925	3	2	469	1	0	0	0	0	1	0	0	0	10962	333	12	5	804	5	OR10A3	11	7960925	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	1992020	7960925	127045591	88	90931											
C11orf49	79096	broad.mit.edu	37	chr11	47185796	47185796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattaccggtgggagcccaGagagtgaggccaggggccgg	8	4	18	11	2	0	2	0	1	0	1	0	4	0	3	5	6	2	0	5	6	1	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:47185796G>A	ENST00000378618.2	+	9	1026	c.974G>A	c.(973-975)aGa>aAa	p.R325K		NM_001003678.1	NP_001003678.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	0										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TGGGAGCCCAGAGAGTGAGGC	0.622													5	24					0	0	0	0	A	47185796	G	A	47185796	3	1	469	1	0	0	0	0	1	0	0	0	1656	942	33	2	1209	2	C11orf49	11	47185796	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	39224871	47185796	87820720	89	90932											
FOLH1	2346	broad.mit.edu	37	chr11	49207259	49207259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgagagggtctcctgcaCcattcagatttaggatattt	9	14	11	7	0	2	2	1	1	1	2	3	4	2	3	2	2	1	1	2	2	2	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:49207259C>A	ENST00000340334.7	-	7	1111	c.743G>T	c.(742-744)gGt>gTt	p.G248V	FOLH1_ENST00000356696.3_Missense_Mutation_p.G263V|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.G248V|FOLH1_ENST00000256999.2_Missense_Mutation_p.G263V	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	263					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTCCTGCACCATTCAGATT	0.443													16	39					1.67942e-08	1.74228e-08	1	0	A	49207259	C	A	49207259	3	1	469	1	0	0	0	0	1	0	0	0	6024	507	18	4	1520	4	FOLH1	11	49207259	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	2021463	49207259	85799257	90	90933											
OR5F1	338674	broad.mit.edu	37	chr11	55761592	55761592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgatggatgacattggaGtcacagaatgacaagctgct	14	9	12	6	0	1	4	1	3	0	1	1	6	1	6	0	2	2	2	0	2	3	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:55761592G>T	ENST00000278409.1	-	1	509	c.510C>A	c.(508-510)gaC>gaA	p.D170E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGACATTGGAGTCACAGAATG	0.473													22	75					2.39556e-15	2.58189e-15	1	0	T	55761592	G	T	55761592	3	4	469	1	0	0	0	0	1	0	0	0	11229	1020	36	4	437	4	OR5F1	11	55761592	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	6554333	55761592	79244924	91	90934											
OR5AS1	219447	broad.mit.edu	37	chr11	55798196	55798196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgggtgtgcactacaaaTgtttttcttcgcttcttttg	6	20	8	7	1	2	0	0	0	2	0	3	0	2	0	0	1	2	3	0	1	3	8			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:55798196T>A	ENST00000313555.1	+	1	302	c.302T>A	c.(301-303)aTg>aAg	p.M101K		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCACTACAAATGTTTTTCTTC	0.453													22	83					0	0	0	0	A	55798196	T	A	55798196	3	1	469	1	0	0	0	0	1	0	0	0	11217	1464	51	5	304	5	OR5AS1	11	55798196	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	36604	55798196	79208320	92	90935											
OR5M3	219482	broad.mit.edu	37	chr11	56237461	56237461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacagtagaaatggttgatCtcaatttttccacagaagta	14	12	8	7	0	1	3	1	1	1	2	3	3	2	3	1	1	0	4	1	1	5	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:56237461C>G	ENST00000312240.2	-	1	553	c.513G>C	c.(511-513)gaG>gaC	p.E171D		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATGGTTGATCTCAATTTTTC	0.403													36	121					0	0	0	0	G	56237461	C	G	56237461	3	3	469	1	0	0	0	0	1	0	0	0	11246	912	32	2	412	2	OR5M3	11	56237461	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	439265	56237461	78769055	93	90936											
LPXN	9404	broad.mit.edu	37	chr11	58317454	58317454	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttacttacatccaggaTgggagcagcgcagtaagcac	12	8	12	9	1	0	0	0	0	0	0	1	3	1	3	1	3	5	4	1	3	3	4	rs140764119		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:58317454T>C	ENST00000528954.1	-	6	786	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	LPXN_ENST00000528489.1_Missense_Mutation_p.I198V|LPXN_ENST00000395074.2_Missense_Mutation_p.I218V	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	218	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACATCCAGGATGGGAGCAGCG	0.493													28	82					0	0	0	0	C	58317454	T	C	58317454	3	2	469	1	0	0	0	0	1	0	0	0	8993	1464	51	5	524	5	LPXN	11	58317454	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	2079993	58317454	76689062	94	90937											
EHBP1L1	254102	broad.mit.edu	37	chr11	65351857	65351857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccatcctgcaccgattctAcccagacaagatgtgagctg	10	9	9	13	1	1	3	0	1	1	2	2	4	2	3	4	0	4	2	4	0	2	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:65351857A>G	ENST00000309295.4	+	10	3504	c.3239A>G	c.(3238-3240)tAc>tGc	p.Y1080C		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1080	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CACCGATTCTACCCAGACAAG	0.607													29	46					0	0	0	0	G	65351857	A	G	65351857	3	3	469	1	0	0	0	0	1	0	0	0	5012	391	14	5	3277	5	EHBP1L1	11	65351857	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	7034403	65351857	69654659	95	90938											
PCNXL3	399909	broad.mit.edu	37	chr11	65385113	65385113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcgggagcagggcagCaacaatgtgatcgtgacttc	9	8	15	9	2	0	2	0	2	0	0	2	3	0	3	0	3	4	3	0	3	2	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:65385113C>T	ENST00000355703.3	+	5	1052	c.513C>T	c.(511-513)agC>agT	p.S171S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	171						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCAGGGCAGCAACAATGTGA	0.617													10	20					0	0	0	0	T	65385113	C	T	65385113	2	4	469	1	0	0	0	0	0	0	0	1	11664	709	25	4		4	PCNXL3	11	65385113	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	33256	65385113	69621403	96	90939											
PC	5091	broad.mit.edu	37	chr11	66617203	66617203	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcggggtacatagctgctGagagcacatcttccggcgtc	8	9	12	12	3	1	1	0	1	1	1	4	2	2	1	1	3	4	4	1	3	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:66617203G>C	ENST00000393960.1	-	21	3307	c.3026C>G	c.(3025-3027)tCa>tGa	p.S1009*	PC_ENST00000529047.1_Nonsense_Mutation_p.S129*|PC_ENST00000393955.2_Nonsense_Mutation_p.S1009*|PC_ENST00000393958.2_Nonsense_Mutation_p.S1009*|PC_ENST00000528224.1_5'UTR	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	1009					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CATAGCTGCTGAGAGCACATC	0.622													4	62					0	0	0	0	C	66617203	G	C	66617203	4	2	469	1	0	0	0	0	0	1	0	0	11568	1294	45	2	522	2	PC	11	66617203	Nonsense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	1232090	66617203	68389313	97	90940											
BACE1	23621	broad.mit.edu	37	chr11	117186253	117186253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgaccaccttaccgTctgcggggggctgcccacgg	4	7	14	16	3	1	1	0	1	1	0	1	1	1	1	5	5	3	1	5	5	1	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:117186253T>C	ENST00000313005.6	-	1	719	c.259A>G	c.(259-261)Acg>Gcg	p.T87A	BACE1_ENST00000513780.1_Missense_Mutation_p.T87A|BACE1_ENST00000445823.2_Missense_Mutation_p.T87A|BACE1_ENST00000528053.1_Missense_Mutation_p.T87A|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000428381.2_Missense_Mutation_p.T87A	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	87					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CACCTTACCGTCTGCGGGGGG	0.657													6	17					0	0	0	0	C	117186253	T	C	117186253	3	2	469	1	0	0	0	0	1	0	0	0	1285	1667	58	5	1282	5	BACE1	11	117186253	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	50569050	117186253	17820263	98	90941											
SPATA19	219938	broad.mit.edu	37	chr11	133714533	133714533	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagaagcctcttcttcTgtctgaaaggtgagaaattc	10	11	9	11	1	4	3	0	2	4	2	5	5	4	3	3	1	1	0	3	1	3	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:133714533T>A	ENST00000299140.3	-	3	192	c.138A>T	c.(136-138)acA>acT	p.T46T	SPATA19_ENST00000532889.1_Silent_p.T46T	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	46					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CCTCTTCTTCTGTCTGAAAGG	0.488													20	46					0	0	0	0	A	133714533	T	A	133714533	2	1	469	1	0	0	0	0	0	0	0	1	15094	1567	55	5		5	SPATA19	11	133714533	Silent	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	16528280	133714533	1291983	99	90942											
PIK3C2G	5288	broad.mit.edu	37	chr12	18699354	18699354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagacctggaagcaacaaGtcattttaccaagtaagatc	16	8	7	10	0	1	2	1	0	0	2	2	3	1	3	2	1	3	2	2	1	6	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:18699354G>A	ENST00000433979.1	+	25	3571	c.3455G>A	c.(3454-3456)aGt>aAt	p.S1152N	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1152N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1193N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1152	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAGCAACAAGTCATTTTACC	0.423													9	16					0	0	0	0	A	18699354	G	A	18699354	3	1	469	1	0	0	0	0	1	0	0	0	11983	1029	36	4	3549	4	PIK3C2G	12	18699354	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		18699354	115152541	100	90943											
CASC1	55259	broad.mit.edu	37	chr12	25264751	25264751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagagtgtctagtaggaaaGatattcagtccagcttcttt	11	14	10	6	0	3	2	1	1	2	2	4	4	4	3	1	1	1	2	1	1	4	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:25264751G>C	ENST00000354189.5	-	14	1943	c.1908C>G	c.(1906-1908)atC>atG	p.I636M	CASC1_ENST00000545133.1_Missense_Mutation_p.I513M|CASC1_ENST00000537577.1_Missense_Mutation_p.I460M|CASC1_ENST00000395987.3_Missense_Mutation_p.I578M|CASC1_ENST00000395990.2_Missense_Mutation_p.I532M|CASC1_ENST00000320267.9_Missense_Mutation_p.I572M	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	572										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TAGTAGGAAAGATATTCAGTC	0.318													27	58					0	0	0	0	C	25264751	G	C	25264751	3	2	469	1	0	0	0	0	1	0	0	0	2685	932	33	2	446	2	CASC1	12	25264751	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	6565397	25264751	108587144	101	90944											
ZNF664	144348	broad.mit.edu	37	chr12	124497326	124497326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggccttcagtcagagttCgagcctgtgcatccaccaga	10	8	11	12	1	2	2	2	0	0	2	4	4	3	2	4	1	2	2	4	1	1	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:124497326C>T	ENST00000539644.1	+	6	2465	c.635C>T	c.(634-636)tCg>tTg	p.S212L	ZNF664_ENST00000538932.2_Missense_Mutation_p.S212L|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.S212L|ZNF664_ENST00000337815.4_Missense_Mutation_p.S212L			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		AGTCAGAGTTCGAGCCTGTGC	0.527													32	99					0	0	0	0	T	124497326	C	T	124497326	3	4	469	1	0	0	0	0	1	0	0	0	18167	893	31	1	637	1	ZNF664	12	124497326	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	99232575	124497326	9354569	102	90945											
USP12	219333	broad.mit.edu	37	chr13	27669743	27669743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgatatacttacagtttCacaagtaagacatctggttt	13	15	7	6	0	2	2	1	1	1	1	2	2	2	2	0	1	2	4	0	1	6	7			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:27669743C>T	ENST00000282344.6	-	4	824	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	190					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CTTACAGTTTCACAAGTAAGA	0.308													7	58					0	0	0	0	T	27669743	C	T	27669743	3	4	469	1	0	0	0	0	1	0	0	0	17139	835	29	2	568	2	USP12	13	27669743	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08		27669743	87500135	103	90946											
DCLK1	9201	broad.mit.edu	37	chr13	36700120	36700120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctttcttggccttcttctcgGagctgagcgtctgcagcgtg	3	14	12	12	3	4	1	0	1	4	0	5	2	4	2	1	2	4	2	1	2	0	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:36700120G>C	ENST00000255448.4	-	2	366	c.155C>G	c.(154-156)tCc>tGc	p.S52C	DCLK1_ENST00000379892.4_Missense_Mutation_p.S52C|DCLK1_ENST00000360631.3_Missense_Mutation_p.S52C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	52					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCTTCTCGGAGCTGAGCGT	0.582													14	28					0	0	0	0	C	36700120	G	C	36700120	3	2	469	1	0	0	0	0	1	0	0	0	4323	1174	41	2	2102	2	DCLK1	13	36700120	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	9030377	36700120	78469758	104	90947											
GRK1	6011	broad.mit.edu	37	chr13	114325920	114325920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcacctgcaccagaggCggatcgtctaccgcgacctc	8	6	12	15	4	1	1	0	0	1	1	3	4	1	3	4	3	3	2	4	3	1	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:114325920C>T	ENST00000335678.6	+	3	1166	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	312	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCACCAGAGGCGGATCGTCTA	0.552													7	20					0	0	0	0	T	114325920	C	T	114325920	3	4	469	1	0	0	0	0	1	0	0	0	6840	759	27	1	944	1	GRK1	13	114325920	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	77625800	114325920	843958	105	90948											
OR6S1	341799	broad.mit.edu	37	chr14	21109086	21109086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaaaatggcacttccAtagaagagggtcaccactat	16	8	9	8	0	1	3	1	0	0	3	2	4	2	3	2	2	0	1	2	2	6	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:21109086A>G	ENST00000320704.3	-	1	764	c.765T>C	c.(763-765)taT>taC	p.Y255Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGGCACTTCCATAGAAGAGGG	0.517													36	61					0	0	0	0	G	21109086	A	G	21109086	2	3	469	1	0	0	0	0	0	0	0	1	11280	224	8	5		5	OR6S1	14	21109086	Silent	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08		21109086	86240454	106	90949											
CHD8	57680	broad.mit.edu	37	chr14	21861798	21861799	+	Frame_Shift_Ins	INS	-	-	G																															gaacactccgggaaaccagaINSggggtagtatcagaggggga																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:21861798_21861799insG	ENST00000399982.2	-	31	6219_6220	c.6155_6156insC	c.(6154-6156)cctfs	p.P2052fs	CHD8_ENST00000557364.1_Frame_Shift_Ins_p.P2052fs|CHD8_ENST00000430710.3_Frame_Shift_Ins_p.P1773fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2052					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGAAACCAGAGGGGTAGTATC	0.53													13	52	---	---	---	---					G	21861799	-	G	21861798	7	5	469	1	0	1	1	0	0	0	0	0	3360	291	11	0	1617	0	CHD8	14	21861798	Frame_Shift_Ins	INS	-	TCGA-P3-A6T7-01A-11D-A34J-08	752712	21861798	85487742	107	90950											
GMPR2	51292	broad.mit.edu	37	chr14	24704944	24704945	+	Splice_Site	DEL	TC	TC	-																															ttctttgtcttctccccagtTctctctcttcactgctgtcc																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:24704944_24704945delTC	ENST00000557854.1	+	3	540_541	c.261_splice	c.e3-1	p.F88_splice	GMPR2_ENST00000559836.1_Splice_Site_p.F70_splice|GMPR2_ENST00000348719.7_Splice_Site_p.F70_splice|GMPR2_ENST00000355299.4_Splice_Site_p.F70_splice|GMPR2_ENST00000399440.2_Splice_Site_p.F70_splice|GMPR2_ENST00000456667.3_Intron|GMPR2_ENST00000559104.1_Splice_Site_p.F88_splice|GMPR2_ENST00000420554.2_Splice_Site_p.F88_splice|GMPR2_ENST00000559910.1_Splice_Site_p.F70_splice			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	70					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TCTCCCCAGTTCTCTCTCTTCA	0.446													25	148	---	---	---	---					-	24704945	TC	-	24704944	8	5	469	1	0	1	0	1	0	0	1	0	6548	1797	62	0	273	0	GMPR2	14	24704944	Splice_Site	DEL	TC	TCGA-P3-A6T7-01A-11D-A34J-08	2843146	24704944	82644596	108	90951											
NYNRIN	57523	broad.mit.edu	37	chr14	24882283	24882283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcctgatgaatagttccaAgaaactgatggtcaaagatc	15	10	8	8	0	1	5	1	3	0	2	4	5	3	5	2	1	1	1	2	1	5	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:24882283A>T	ENST00000382554.3	+	7	3041	c.2723A>T	c.(2722-2724)aAg>aTg	p.K908M	NYNRIN_ENST00000554505.1_3'UTR	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	908					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AATAGTTCCAAGAAACTGATG	0.522													6	7					0	0	0	0	T	24882283	A	T	24882283	3	4	469	1	0	0	0	0	1	0	0	0	10867	72	3	5	2745	5	NYNRIN	14	24882283	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	177339	24882283	82467257	109	90952											
HECTD1	25831	broad.mit.edu	37	chr14	31576780	31576780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatattcttacgtgacgaGattcatcatctggaaaatta	15	13	7	6	2	4	2	2	1	2	1	4	5	4	3	0	1	1	0	0	1	6	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:31576780G>C	ENST00000399332.1	-	37	7099	c.6611C>G	c.(6610-6612)tCt>tGt	p.S2204C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S2204C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2204	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TACGTGACGAGATTCATCATC	0.398													40	54					0	0	0	0	C	31576780	G	C	31576780	3	2	469	1	0	0	0	0	1	0	0	0	7089	942	33	2	1249	2	HECTD1	14	31576780	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	6694497	31576780	75772760	110	90953											
FANCM	57697	broad.mit.edu	37	chr14	45644788	45644788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctggaaatgttttagattCtggttataacagtttcaatg	11	17	9	4	0	2	1	1	0	1	1	2	2	2	2	0	2	2	4	0	2	5	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:45644788C>G	ENST00000267430.5	+	14	2916	c.2831C>G	c.(2830-2832)tCt>tGt	p.S944C	FANCM_ENST00000542564.2_Missense_Mutation_p.S918C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	944					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			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						GTTTTAGATTCTGGTTATAAC	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				70	115					0	0	0	0	G	45644788	C	G	45644788	3	3	469	1	0	0	0	0	1	0	0	0	5716	913	32	2	2885	2	FANCM	14	45644788	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	14068008	45644788	61704752	111	90954											
ARID4A	5926	broad.mit.edu	37	chr14	58827630	58827630	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgcccagaataaagaagaTagtgaaaaggacgaaaagag	20	5	12	4	1	0	5	0	1	0	4	0	7	0	6	1	1	1	1	1	1	9	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:58827630T>C	ENST00000355431.3	+	19	2323	c.1950T>C	c.(1948-1950)gaT>gaC	p.D650D	ARID4A_ENST00000395168.3_Silent_p.D650D|ARID4A_ENST00000348476.3_Silent_p.D650D|ARID4A_ENST00000431317.2_Silent_p.D650D	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	650					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAAAGAAGATAGTGAAAAGG	0.388													48	51					0	0	0	0	C	58827630	T	C	58827630	2	2	469	1	0	0	0	0	0	0	0	1	921	1403	49	5		5	ARID4A	14	58827630	Silent	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	13182842	58827630	48521910	112	90955											
ATXN3	4287	broad.mit.edu	37	chr14	92563016	92563016	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagtgagtttaaaatcagtAcctgtaaaaacgtgcgataa	16	12	8	5	2	1	1	1	1	0	0	1	2	1	1	1	0	3	3	1	0	8	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:92563016A>G	ENST00000545170.1	-	2	258		c.e2+1		ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000532032.1_Splice_Site|ATXN3_ENST00000554491.1_Splice_Site|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Splice_Site|ATXN3_ENST00000393287.5_Splice_Site|ATXN3_ENST00000503767.1_Splice_Site	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3						cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TAAAATCAGTACCTGTAAAAA	0.433													22	115					0	0	0	0	G	92563016	A	G	92563016	5	3	469	1	0	0	0	0	0	0	1	0	1217	405	14	5	934	5	ATXN3	14	92563016	Splice_Site	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	33735386	92563016	14786524	113	90956											
TUBGCP5	114791	broad.mit.edu	37	chr15	22861781	22861781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctttctggaatctgtaCagtcccgtcttcgacatgga	7	14	8	12	2	4	0	0	0	4	0	7	3	5	2	1	2	1	1	1	2	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:22861781C>A	ENST00000283645.4	+	14	1931	c.1801C>A	c.(1801-1803)Cag>Aag	p.Q601K	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.Q601K|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	601					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GGAATCTGTACAGTCCCGTCT	0.388													102	97					1.77486e-58	1.96756e-58	1	0	A	22861781	C	A	22861781	3	1	469	1	0	0	0	0	1	0	0	0	16865	479	17	4	1855	4	TUBGCP5	15	22861781	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08		22861781	79669611	114	90957											
SLC24A5	283652	broad.mit.edu	37	chr15	48414190	48414190	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatggccatatctattgtCtgtgatgaatacttcctacc	9	16	6	10	0	3	2	1	2	2	0	4	2	4	2	3	1	2	0	3	1	5	7			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:48414190C>G	ENST00000482911.2	+	2	299	c.258C>G	c.(256-258)gtC>gtG	p.V86V	SLC24A5_ENST00000341459.3_Silent_p.V86V|SLC24A5_ENST00000449382.2_Intron			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	86					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TATCTATTGTCTGTGATGAAT	0.443													41	132					0	0	0	0	G	48414190	C	G	48414190	2	3	469	1	0	0	0	0	0	0	0	1	14557	900	32	2		2	SLC24A5	15	48414190	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	25552409	48414190	54117202	115	90958											
SYNM	23336	broad.mit.edu	37	chr15	99670214	99670214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagttagataaggaagcgaGacagagagaaagccagcaga	20	3	13	5	1	0	5	0	0	0	5	0	8	0	6	1	1	3	2	1	1	5	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:99670214G>C	ENST00000336292.6	+	5	1766	c.1646G>C	c.(1645-1647)aGa>aCa	p.R549T	SYNM_ENST00000560674.1_Missense_Mutation_p.R264T|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.R549T	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	550	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			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						AAGGAAGCGAGACAGAGAGAA	0.463													5	27					0	0	0	0	C	99670214	G	C	99670214	3	2	469	1	0	0	0	0	1	0	0	0	15546	942	33	2	1662	2	SYNM	15	99670214	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	51256024	99670214	2861178	116	90959											
CIITA	4261	broad.mit.edu	37	chr16	11010264	11010264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagatcggggacgagggtGtctcgcagctctcagccacc	9	6	13	13	3	2	1	1	0	2	1	5	3	2	2	2	3	2	2	2	3	1	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:11010264G>T	ENST00000324288.8	+	15	3143	c.3010G>T	c.(3010-3012)Gtc>Ttc	p.V1004F	CIITA_ENST00000381835.5_Missense_Mutation_p.V420F	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1004					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGACGAGGGTGTCTCGCAGCT	0.617			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								6	23					0.00116845	0.0011868	1	0	T	11010264	G	T	11010264	3	4	469	1	0	0	0	0	1	0	0	0	3457	1377	48	4	3068	4	CIITA	16	11010264	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		11010264	79344489	117	90960											
OTOA	146183	broad.mit.edu	37	chr16	21709177	21709177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatcgtttgaagaaattaCgaaaattagtcctatagaag	16	12	7	6	2	0	3	0	1	0	2	2	4	1	3	2	0	1	1	2	0	10	6	rs145435704	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:21709177C>T	ENST00000388958.3	+	9	822	c.821C>T	c.(820-822)aCg>aTg	p.T274M	OTOA_ENST00000286149.4_Missense_Mutation_p.T274M|OTOA_ENST00000388956.4_Missense_Mutation_p.T195M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	274					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAAGAAATTACGAAAATTAGT	0.353													19	107					0	0	0	0	T	21709177	C	T	21709177	3	4	469	1	0	0	0	0	1	0	0	0	11373	536	19	1	889	1	OTOA	16	21709177	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	10698913	21709177	68645576	118	90961											
ZNF629	23361	broad.mit.edu	37	chr16	30794512	30794512	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggtgaaggtcttgccGcacactgggcacttgaacgg	8	8	14	11	2	2	2	1	2	1	0	2	2	2	2	1	4	2	2	1	4	2	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:30794512G>A	ENST00000262525.4	-	3	1344	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGTCTTGCCGCACACTGGGC	0.657													19	37					0	0	0	0	A	30794512	G	A	30794512	2	1	469	1	0	0	0	0	0	0	0	1	18148	1079	38	1		1	ZNF629	16	30794512	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	9085335	30794512	59560241	119	90962											
OGFOD1	55239	broad.mit.edu	37	chr16	56501083	56501083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctcctttcaggtgtctGaagtgctgtctgaagaaaag	9	13	11	8	0	4	3	1	2	3	1	5	3	4	3	1	1	1	2	1	1	4	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:56501083G>A	ENST00000566157.1	+	7	787	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	OGFOD1_ENST00000568397.1_Intron	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	222	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TCAGGTGTCTGAAGTGCTGTC	0.473													35	153					0	0	0	0	A	56501083	G	A	56501083	3	1	469	1	0	0	0	0	1	0	0	0	10912	1291	45	2	690	2	OGFOD1	16	56501083	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	25706571	56501083	33853670	120	90963											
VPS4A	27183	broad.mit.edu	37	chr16	69350018	69350018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtacttcctccacgctatCaagtgtgagtcacacgaggg	10	9	11	11	2	2	1	2	1	0	0	4	3	4	1	2	1	1	2	2	1	3	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:69350018C>T	ENST00000254950.11	+	2	285	c.129C>T	c.(127-129)atC>atT	p.I43I	RP11-343C2.3_ENST00000570054.2_Silent_p.I67I|VPS4A_ENST00000569775.1_3'UTR	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	43	Interaction with CHMP1B.|MIT.				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TCCACGCTATCAAGTGTGAGT	0.622													16	58					0	0	0	0	T	69350018	C	T	69350018	2	4	469	1	0	0	0	0	0	0	0	1	17308	816	29	2		2	VPS4A	16	69350018	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	12848935	69350018	21004735	121	90964											
HYDIN	54768	broad.mit.edu	37	chr16	70916787	70916787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatatcaaggcattgttttCggtcacgaaggctggggagt	11	11	13	6	2	2	0	2	0	0	0	3	2	2	1	0	5	0	3	0	5	4	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:70916787C>T	ENST00000393567.2	-	60	10141	c.9991G>A	c.(9991-9993)Gaa>Aaa	p.E3331K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3331										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCATTGTTTTCGGTCACGAAG	0.512													17	51					0	0	0	0	T	70916787	C	T	70916787	3	4	469	1	0	0	0	0	1	0	0	0	7520	893	31	1	5482	1	HYDIN	16	70916787	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	1566769	70916787	19437966	122	90965											
MLYCD	23417	broad.mit.edu	37	chr16	83945885	83945885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaaatcactgctgcgatCttttattccatcagcttgac	12	13	5	11	1	3	1	2	1	1	0	4	2	4	1	1	0	4	2	1	0	4	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:83945885C>T	ENST00000262430.4	+	4	880	c.861C>T	c.(859-861)atC>atT	p.I287I	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	287					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CTGCTGCGATCTTTTATTCCA	0.507													16	54					0	0	0	0	T	83945885	C	T	83945885	2	4	469	1	0	0	0	0	0	0	0	1	9707	903	32	2		2	MLYCD	16	83945885	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	13029098	83945885	6408868	123	90966											
GPS2	2874	broad.mit.edu	37	chr17	7220820	7220820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcactctccgtacagcGgcaacattgctcccgtgata	9	9	8	15	3	1	1	0	1	1	0	4	1	3	1	3	1	5	4	3	1	3	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:7220820G>A	ENST00000575474.1	-	6	718	c.719C>T	c.(718-720)cCg>cTg	p.P240L	NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000399464.2_Silent_p.A1426A|NEURL4_ENST00000315614.7_Silent_p.A1424A|NEURL4_ENST00000570460.1_Silent_p.A1402A																							TCCGTACAGCGGCAACATTGC	0.602													25	29					0	0	0	0	A	7220820	G	A	7220820	3	1	469	1	0	0	0	0	1	0	0	0	6783	1103	39	1		1	GPS2	17	7220820	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		7220820	73974390	124	90967											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Frame_Shift_Del	DEL	C	C	-																															cgcccatgcaggaactgttaCacatgtagttgtagtggatg																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:7577568delC	ENST00000420246.2	-	7	845	c.713delG	c.(712-714)ttfs	p.C238fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C238fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572		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)			24	46	---	---	---	---					-	7577568	C	-	7577568	7	5	469	1	0	1	0	1	0	0	0	0	16476	478	17	0	577	0	TP53	17	7577568	Frame_Shift_Del	DEL	C	TCGA-P3-A6T7-01A-11D-A34J-08	356748	7577568	73617642	125	90968											
DDX52	11056	broad.mit.edu	37	chr17	35986097	35986097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtctctgaacccagttttgCcatcttcaaacagtttatct	9	15	6	11	0	4	1	1	1	3	0	5	1	4	1	2	1	3	2	2	1	3	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:35986097C>T	ENST00000349699.2	-	8	1023	c.980G>A	c.(979-981)gGc>gAc	p.G327D	DDX52_ENST00000394367.3_Missense_Mutation_p.G219D	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	327	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCCAGTTTTGCCATCTTCAAA	0.423													4	114					0	0	0	0	T	35986097	C	T	35986097	3	4	469	1	0	0	0	0	1	0	0	0	4402	739	26	4	851	4	DDX52	17	35986097	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	28408529	35986097	45209113	126	90969											
NFE2L1	4779	broad.mit.edu	37	chr17	46136577	46136577	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaccaatgacaaaatcatCaacctgcctgtggaggagtt	13	10	8	10	0	3	1	3	1	0	0	3	3	3	3	3	2	2	1	3	2	4	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:46136577C>T	ENST00000362042.3	+	6	2509	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	NFE2L1_ENST00000536222.1_Silent_p.I475I|NFE2L1_ENST00000583378.1_Silent_p.I432I|NFE2L1_ENST00000361665.3_Silent_p.I620I|NFE2L1_ENST00000357480.5_Silent_p.I601I|NFE2L1_ENST00000582155.1_Silent_p.I443I|NFE2L1_ENST00000585291.1_Silent_p.I601I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	631					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAAATCATCAACCTGCCTG	0.552													23	46					0	0	0	0	T	46136577	C	T	46136577	2	4	469	1	0	0	0	0	0	0	0	1	10437	816	29	2		2	NFE2L1	17	46136577	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	10150480	46136577	35058633	127	90970											
NFE2L1	4779	broad.mit.edu	37	chr17	46136934	46136934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggacggcagtgtcctcctCatcccccgcacgatggccga	6	6	13	16	4	1	0	1	0	0	0	4	3	4	1	5	4	0	2	5	4	0	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:46136934C>T	ENST00000362042.3	+	6	2866	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	NFE2L1_ENST00000536222.1_Silent_p.L594L|NFE2L1_ENST00000583378.1_Silent_p.L551L|NFE2L1_ENST00000361665.3_Silent_p.L739L|NFE2L1_ENST00000357480.5_Silent_p.L720L|NFE2L1_ENST00000582155.1_Silent_p.L562L|NFE2L1_ENST00000585291.1_Silent_p.L720L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	750					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTCCTCCTCATCCCCCGCA	0.647													33	47					0	0	0	0	T	46136934	C	T	46136934	2	4	469	1	0	0	0	0	0	0	0	1	10437	813	29	2		2	NFE2L1	17	46136934	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	357	46136934	35058276	128	90971											
STXBP4	252983	broad.mit.edu	37	chr17	53237245	53237245	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaatgaagaggattgctcTagagaactccccaaccagaa	16	6	10	9	0	1	5	0	1	1	4	2	8	2	6	3	1	3	1	3	1	6	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:53237245T>C	ENST00000376352.2	+	18	1842	c.1635T>C	c.(1633-1635)tcT>tcC	p.S545S	STXBP4_ENST00000434978.2_Silent_p.S523S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	545						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AGGATTGCTCTAGAGAACTCC	0.443													30	49					0	0	0	0	C	53237245	T	C	53237245	2	2	469	1	0	0	0	0	0	0	0	1	15445	1509	53	5		5	STXBP4	17	53237245	Silent	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	7100311	53237245	27957965	129	90972											
TUBD1	51174	broad.mit.edu	37	chr17	57952011	57952011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacatgtgaggaatgttacGaacactcagcatcttgaatt	14	11	9	7	1	2	3	1	2	1	1	2	5	2	4	0	1	3	2	0	1	4	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:57952011G>A	ENST00000325752.3	-	6	1100	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	TUBD1_ENST00000592426.1_Missense_Mutation_p.R275C|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.R275C|TUBD1_ENST00000539018.1_Missense_Mutation_p.R59C|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000340993.6_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	275					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GGAATGTTACGAACACTCAGC	0.368													5	306					0	0	0	0	A	57952011	G	A	57952011	3	1	469	1	0	0	0	0	1	0	0	0	16858	1058	37	1	554	1	TUBD1	17	57952011	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	4714766	57952011	23243199	130	90973											
TBX2	6909	broad.mit.edu	37	chr17	59485538	59485538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgccgccgcagccgccGgctccctctcccggagcccc	2	4	11	24	6	1	0	0	0	1	0	3	1	2	1	9	2	3	2	9	2	0	0	rs147014278		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:59485538G>A	ENST00000240328.3	+	7	2091	c.1810G>A	c.(1810-1812)Ggc>Agc	p.G604S	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	604					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						cgcagccgccgGCTCCCTCTC	0.697													11	30					0	0	0	0	A	59485538	G	A	59485538	3	1	469	1	0	0	0	0	1	0	0	0	15749	1116	39	1	1836	1	TBX2	17	59485538	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	1533527	59485538	21709672	131	90974											
ABCA5	23461	broad.mit.edu	37	chr17	67304439	67304440	+	Frame_Shift_Ins	INS	-	-	A																															cctgtataatggcagcatctINSatggatgcttgtaaaactgt																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:67304439_67304440insA	ENST00000392676.3	-	5	603_604	c.539_540insT	c.(538-540)agafs	p.R180fs	ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.R180fs|ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.R180fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	180					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TGGCAGCATCTATGGATGCTTG	0.342													45	217	---	---	---	---					A	67304440	-	A	67304439	7	5	469	1	0	1	1	0	0	0	0	0	35	1512	53	0	4528	0	ABCA5	17	67304439	Frame_Shift_Ins	INS	-	TCGA-P3-A6T7-01A-11D-A34J-08	7818901	67304439	13890771	132	90975											
TMC6	11322	broad.mit.edu	37	chr17	76120670	76120670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagggcgggtgggaaggCgacctgagggcccatgatga	8	4	20	9	3	0	3	0	3	0	0	0	5	0	4	2	6	0	1	2	6	1	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:76120670C>T	ENST00000590602.1	-	8	985	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	TMC6_ENST00000589553.1_Missense_Mutation_p.A49T|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.A276T|TMC6_ENST00000306591.7_Missense_Mutation_p.A276T|TMC6_ENST00000392467.3_Missense_Mutation_p.A276T			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	276				QVAF -> PRVR (in Ref. 6; AAH35648).		endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGTGGGAAGGCGACCTGAGGG	0.672													6	25					0	0	0	0	T	76120670	C	T	76120670	3	4	469	1	0	0	0	0	1	0	0	0	16083	768	27	1	1643	1	TMC6	17	76120670	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	8816231	76120670	5074540	133	90976											
BAHCC1	57597	broad.mit.edu	37	chr17	79409647	79409647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggagggcaaggaccggcaCctggagggaaccatggcccc	9	2	18	12	1	0	0	0	0	0	0	0	4	0	4	5	8	1	2	5	8	2	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:79409647C>T	ENST00000307745.7	+	9	1272	c.1272C>T	c.(1270-1272)caC>caT	p.H424H																								AGGACCGGCACCTGGAGGGAA	0.711													6	19					0	0	0	0	T	79409647	C	T	79409647	2	4	469	1	0	0	0	0	0	0	0	1	1300	506	18	4		4	BAHCC1	17	79409647	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	3288977	79409647	1785563	134	90977											
MYO5B	4645	broad.mit.edu	37	chr18	47479679	47479679	+	Frame_Shift_Del	DEL	T	T	-																															cttcatacaccgtgtctctgTttttctccagaaaaccatca																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:47479679delT	ENST00000285039.7	-	14	2002	c.1703delA	c.(1702-1704)acfs	p.N568fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	568	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGTGTCTCTGTTTTTCTCCAG	0.512													41	61	---	---	---	---					-	47479679	T	-	47479679	7	5	469	1	0	1	0	1	0	0	0	0	10149	1725	60	0	3951	0	MYO5B	18	47479679	Frame_Shift_Del	DEL	T	TCGA-P3-A6T7-01A-11D-A34J-08		47479679	30597569	135	90978											
SMAD4	4089	broad.mit.edu	37	chr18	48591933	48591933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcgcttttgtttgggtCaactctccaatgtccacagg	8	13	10	10	1	2	1	1	0	1	1	5	2	3	1	2	2	1	2	2	2	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:48591933C>A	ENST00000342988.3	+	9	1634	c.1096C>A	c.(1096-1098)Caa>Aaa	p.Q366K	SMAD4_ENST00000588745.1_Missense_Mutation_p.Q270K|SMAD4_ENST00000398417.2_Missense_Mutation_p.Q366K	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	366	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q366*(3)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTGTTTGGGTCAACTCTCCAA	0.413													24	40					1.85244e-09	1.95312e-09	1	0	A	48591933	C	A	48591933	3	1	469	1	0	0	0	0	1	0	0	0	14848	827	29	2	1126	2	SMAD4	18	48591933	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	1112254	48591933	29485315	136	90979											
ZNF516	9658	broad.mit.edu	37	chr18	74154328	74154328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcctcgccgctgccgggcCcctgcgcggtgatgtggtcc	2	7	16	16	5	0	1	0	1	0	0	2	1	1	1	6	4	2	1	6	4	0	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:74154328C>T	ENST00000443185.2	-	3	1000	c.683G>A	c.(682-684)gGg>gAg	p.G228E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTGCCGGGCCCCTGCGCGGT	0.697													5	11					0	0	0	0	T	74154328	C	T	74154328	3	4	469	1	0	0	0	0	1	0	0	0	18055	623	22	4	2829	4	ZNF516	18	74154328	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	25562395	74154328	3922920	137	90980											
CACNA1A	773	broad.mit.edu	37	chr19	13446718	13446718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtgttccctgaggcatcGttgctctgtagggtgtgagg	6	12	15	8	1	1	2	0	2	1	0	3	2	2	2	1	3	1	5	1	3	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:13446718G>A	ENST00000360228.5	-	7	983	c.984C>T	c.(982-984)aaC>aaT	p.N328N	CACNA1A_ENST00000573710.2_Silent_p.N328N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	328					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTGAGGCATCGTTGCTCTGTA	0.532													3	13					0	0	0	0	A	13446718	G	A	13446718	2	1	469	1	0	0	0	0	0	0	0	1	2563	1136	40	1		1	CACNA1A	19	13446718	Silent	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		13446718	45682265	138	90981											
ZNF568	374900	broad.mit.edu	37	chr19	37440671	37440671	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagagaaacagagtaatGagtttgggaaaccattttac	17	10	10	4	0	0	4	0	1	0	3	0	6	0	5	1	1	3	2	1	1	5	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:37440671G>T	ENST00000415168.1	+	5	800	c.424G>T	c.(424-426)Gag>Tag	p.E142*	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.E206*|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAGAGTAATGAGTTTGGGAA	0.368													42	115					6.5261e-18	7.07298e-18	1	0	T	37440671	G	T	37440671	4	4	469	1	0	0	0	0	0	1	0	0	18094	1291	45	2	634	2	ZNF568	19	37440671	Nonsense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	23993953	37440671	21688312	139	90982											
TTC9B	148014	broad.mit.edu	37	chr19	40723998	40723998	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggcgggccccctgcgcCgccttcagctgcagcagcgc	4	5	14	18	4	1	0	1	0	0	0	1	0	1	0	4	2	5	3	4	2	1	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:40723998C>T	ENST00000311308.6	-	1	308	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	97							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						ccccctgcgccgccTTCAGCT	0.756													10	26					0	0	0	0	T	40723998	C	T	40723998	2	4	469	1	0	0	0	0	0	0	0	1	16812	639	23	1		1	TTC9B	19	40723998	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	3283327	40723998	18404985	140	90983											
ZNF223	7766	broad.mit.edu	37	chr19	44559294	44559294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctggaactgtgtcatTcaggactctgcaaattccct	8	14	7	12	0	3	0	2	0	1	0	5	2	5	2	2	2	2	1	2	2	2	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:44559294T>C	ENST00000591793.1	+	4	378	c.295T>C	c.(295-297)Tca>Cca	p.S99P	ZNF223_ENST00000434772.3_5'UTR|ZNF223_ENST00000588518.1_3'UTR|ZNF223_ENST00000585552.1_5'UTR			Q9UK11	ZN223_HUMAN	zinc finger protein 223	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ACTGTGTCATTCAGGACTCTG	0.453													24	61					0	0	0	0	C	44559294	T	C	44559294	3	2	469	1	0	0	0	0	1	0	0	0	17872	1798	62	5		5	ZNF223	19	44559294	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	3835296	44559294	14569689	141	90984											
MAMSTR	284358	broad.mit.edu	37	chr19	49217224	49217224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcagcaggagccggagtggGagttggagccggagccgtcc	7	5	19	10	3	0	0	0	0	0	0	1	5	1	5	4	5	5	3	4	5	0	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:49217224G>C	ENST00000318083.6	-	8	865	c.802C>G	c.(802-804)Ccc>Gcc	p.P268A	MAMSTR_ENST00000594582.1_Missense_Mutation_p.P100A|MAMSTR_ENST00000377367.3_Missense_Mutation_p.P100A|MAMSTR_ENST00000419611.1_Missense_Mutation_p.P165A|MAMSTR_ENST00000356751.4_Missense_Mutation_p.P165A			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	268	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						gccggagtgggagttggagcc	0.682													14	52					0	0	0	0	C	49217224	G	C	49217224	3	2	469	1	0	0	0	0	1	0	0	0	9278	1174	41	2	457	2	MAMSTR	19	49217224	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	4657930	49217224	9911759	142	90985											
NR1H2	7376	broad.mit.edu	37	chr19	50882024	50882024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaactgcagtgcaacaaaCgctccttctccgaccagccc	10	6	6	19	2	1	0	0	0	1	0	3	1	2	0	5	0	6	3	5	0	3	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:50882024C>T	ENST00000542413.1	+	10	1470	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	NR1H2_ENST00000411902.2_Missense_Mutation_p.R143C|NR1H2_ENST00000253727.5_Missense_Mutation_p.R240C|NR1H2_ENST00000593926.1_Missense_Mutation_p.R240C|NR1H2_ENST00000599105.1_Missense_Mutation_p.R240C|NR1H2_ENST00000598168.1_Missense_Mutation_p.R240C			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	240					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GTGCAACAAACGCTCCTTCTC	0.617													12	52					0	0	0	0	T	50882024	C	T	50882024	3	4	469	1	0	0	0	0	1	0	0	0	10688	536	19	1	732	1	NR1H2	19	50882024	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	1664800	50882024	8246959	143	90986											
MYBPC2	4606	broad.mit.edu	37	chr19	50967652	50967652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaatccgtgaagatcccaAgttcctgataaccaattacc	14	9	7	11	1	0	3	0	2	0	1	3	4	3	4	5	1	2	1	5	1	6	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:50967652A>G	ENST00000357701.5	+	27	3329	c.3278A>G	c.(3277-3279)aAg>aGg	p.K1093R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1093	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAAGATCCCAAGTTCCTGATA	0.557													9	28					0	0	0	0	G	50967652	A	G	50967652	3	3	469	1	0	0	0	0	1	0	0	0	10082	72	3	5	3384	5	MYBPC2	19	50967652	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	85628	50967652	8161331	144	90987											
ZNF432	9668	broad.mit.edu	37	chr19	52538076	52538076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgcatatgtagggtttctCtccagtatgagttcgctgat	8	16	10	7	1	1	2	0	2	1	0	4	2	2	2	1	1	1	6	1	1	3	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:52538076C>T	ENST00000594154.1	-	5	1068	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZNF432_ENST00000221315.5_Missense_Mutation_p.E286K			O94892	ZN432_HUMAN	zinc finger protein 432	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TAGGGTTTCTCTCCAGTATGA	0.383													44	212					0	0	0	0	T	52538076	C	T	52538076	3	4	469	1	0	0	0	0	1	0	0	0	18001	922	32	2	1106	2	ZNF432	19	52538076	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	1570424	52538076	6590907	145	90988											
HSPBP1	23640	broad.mit.edu	37	chr19	55776657	55776657	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtacctggtactcctCatgctgctgcagcagctgac	7	10	9	15	0	1	1	1	1	0	0	2	1	2	1	3	1	7	7	3	1	2	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:55776657C>A	ENST00000255631.5	-	8	1304	c.994G>T	c.(994-996)Gag>Tag	p.E332*	HSPBP1_ENST00000587922.1_Nonsense_Mutation_p.E332*|HSPBP1_ENST00000433386.2_Nonsense_Mutation_p.E332*|HSPBP1_ENST00000376343.3_Nonsense_Mutation_p.E230*	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	335					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGGTACTCCTCATGCTGCTGC	0.667													30	123					4.31634e-10	4.60093e-10	1	0	A	55776657	C	A	55776657	4	1	469	1	0	0	0	0	0	1	0	0	7479	835	29	2	93	2	HSPBP1	19	55776657	Nonsense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	3238581	55776657	3352326	146	90989											
NLRP8	126205	broad.mit.edu	37	chr19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgccacctctgtgttcGtccggtatatttctagcttg	7	15	8	11	2	2	0	0	0	2	0	4	0	3	0	3	1	2	3	3	1	4	6			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT.					cytoplasm	ATP binding	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498													30	138					0	0	0	0	A	56466706	G	A	56466706	3	1	469	1	0	0	0	0	1	0	0	0	10553	1145	40	1	1292	1	NLRP8	19	56466706	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	690049	56466706	2662277	147	90990											
BFSP1	631	broad.mit.edu	37	chr20	17479642	17479642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagctgaatctcatcgtcaTaacactcatgggcactttta	13	12	6	10	1	3	1	3	1	1	0	5	1	3	1	0	1	2	2	0	1	4	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:17479642T>C	ENST00000377873.3	-	6	818	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	BFSP1_ENST00000377868.2_Missense_Mutation_p.Y135C|BFSP1_ENST00000536626.1_Missense_Mutation_p.Y121C|BFSP1_ENST00000544874.1_Missense_Mutation_p.Y121C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	260	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCATCGTCATAACACTCATG	0.478													38	105					0	0	0	0	C	17479642	T	C	17479642	3	2	469	1	0	0	0	0	1	0	0	0	1420	1406	49	5	1230	5	BFSP1	20	17479642	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08		17479642	45545878	148	90991											
ZNF337	26152	broad.mit.edu	37	chr20	25666272	25666272	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgctctagccgcctgaTgagttctggtttagaatgga	7	13	11	10	1	2	3	0	2	2	1	2	4	2	4	3	2	2	3	3	2	3	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:25666272T>A	ENST00000376436.1	-	3	720	c.181A>T	c.(181-183)Atc>Ttc	p.I61F	ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.I61F|ZNF337_ENST00000538750.1_Intron					zinc finger protein 337											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						AGCCGCCTGATGAGTTCTGGT	0.577													27	108					0	0	0	0	A	25666272	T	A	25666272	3	1	469	1	0	0	0	0	1	0	0	0	17948	1464	51	5	2082	5	ZNF337	20	25666272	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	8186630	25666272	37359248	149	90992											
CHD6	84181	broad.mit.edu	37	chr20	40141541	40141541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgttcgaccagctccaaGaacagcaattgtttccccat	12	10	7	12	1	0	2	0	0	0	2	3	3	2	2	4	0	3	4	4	0	3	3			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:40141541G>C	ENST00000373233.3	-	5	973	c.796C>G	c.(796-798)Ctt>Gtt	p.L266V	CHD6_ENST00000309279.7_Missense_Mutation_p.L266V|CHD6_ENST00000373222.3_Missense_Mutation_p.L301V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	266					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAGCTCCAAGAACAGCAATT	0.517													84	250					0	0	0	0	C	40141541	G	C	40141541	3	2	469	1	0	0	0	0	1	0	0	0	3358	942	33	2	7483	2	CHD6	20	40141541	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	14475269	40141541	22883979	150	90993											
B3GALT5	10317	broad.mit.edu	37	chr21	41033143	41033143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctccggcaccggctaCgtgttttctggcgacgtggc	3	12	13	13	5	2	0	0	0	2	0	3	1	3	0	2	4	2	4	2	4	1	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr21:41033143C>T	ENST00000380620.3	+	5	1249	c.657C>T	c.(655-657)taC>taT	p.Y219Y	B3GALT5_ENST00000343118.4_Silent_p.Y219Y|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.Y219Y|B3GALT5_ENST00000398714.2_Silent_p.Y219Y			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	219					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GCACCGGCTACGTGTTTTCTG	0.522													8	110					0	0	0	0	T	41033143	C	T	41033143	2	4	469	1	0	0	0	0	0	0	0	1	1254	547	19	1		1	B3GALT5	21	41033143	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08		41033143	7096752	151	90994											
PI4KA	5297	broad.mit.edu	37	chr22	21083735	21083735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctccggcctggtctagTtccagttccggggctgacag	4	12	12	13	2	2	1	0	1	2	0	6	1	5	1	4	4	0	3	4	4	1	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:21083735T>C	ENST00000255882.6	-	39	4634	c.4548A>G	c.(4546-4548)gaA>gaG	p.E1516E	PI4KA_ENST00000414196.3_Silent_p.E268E|PI4KA_ENST00000572273.1_Silent_p.E1458E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1458					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTGGTCTAGTTCCAGTTCCG	0.552													10	31					0	0	0	0	C	21083735	T	C	21083735	2	2	469	1	0	0	0	0	0	0	0	1	11945	1722	60	5		5	PI4KA	22	21083735	Silent	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08		21083735	30220831	152	90995											
FOXRED2	80020	broad.mit.edu	37	chr22	36900703	36900703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggatcagcacattctggCctacaaagtcctcagggtcc	10	8	9	14	0	3	0	2	0	1	0	5	1	5	1	4	3	2	1	4	3	2	2			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:36900703C>A	ENST00000397224.4	-	3	731	c.638G>T	c.(637-639)gGc>gTc	p.G213V	FOXRED2_ENST00000397223.4_Missense_Mutation_p.G213V|FOXRED2_ENST00000216187.6_Missense_Mutation_p.G213V	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	213					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACATTCTGGCCTACAAAGTC	0.547													5	35					1	1	1	0	A	36900703	C	A	36900703	3	1	469	1	0	0	0	0	1	0	0	0	6081	739	26	4	1444	4	FOXRED2	22	36900703	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	15816968	36900703	14403863	153	90996											
TMEM184B	25829	broad.mit.edu	37	chr22	38643838	38643838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagatggcctgagcggcagTtgtcatcaggaacacaggct	11	7	14	9	1	2	2	2	1	0	1	2	4	2	3	1	4	2	3	1	4	1	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:38643838T>C	ENST00000361906.3	-	2	338	c.130A>G	c.(130-132)Act>Gct	p.T44A	TMEM184B_ENST00000361684.4_Missense_Mutation_p.T44A	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	44						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGAGCGGCAGTTGTCATCAGG	0.647													3	12					0	0	0	0	C	38643838	T	C	38643838	3	2	469	1	0	0	0	0	1	0	0	0	16199	1725	60	5	1125	5	TMEM184B	22	38643838	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	1743135	38643838	12660728	154	90997											
CACNA1I	8911	broad.mit.edu	37	chr22	40066188	40066188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggctgaagaggcacGgcggcgtgaggagaagcggc	10	2	20	9	4	0	4	0	2	0	2	0	6	0	5	1	7	1	2	1	7	2	0			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:40066188G>A	ENST00000336649.4	+	28	4358	c.4358G>A	c.(4357-4359)cGg>cAg	p.R1453Q	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1412Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1447					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAAGAGGCACGGCGGCGTGAG	0.627													40	115					0	0	0	0	A	40066188	G	A	40066188	3	1	469	1	0	0	0	0	1	0	0	0	2571	1116	39	1	4438	1	CACNA1I	22	40066188	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	1422350	40066188	11238378	155	90998											
CELSR1	9620	broad.mit.edu	37	chr22	46859772	46859772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgatggggtggatgggccGgaagagcacggtggtggagc	7	7	22	5	2	0	2	0	1	0	1	0	5	0	5	1	8	2	2	1	8	1	1			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:46859772G>A	ENST00000262738.3	-	2	4014	c.4015C>T	c.(4015-4017)Cgg>Tgg	p.R1339W	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1339W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1339	EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGATGGGCCGGAAGAGCACG	0.662													8	34					0	0	0	0	A	46859772	G	A	46859772	3	1	469	1	0	0	0	0	1	0	0	0	3250	1115	39	1	5165	1	CELSR1	22	46859772	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08	6793584	46859772	4444794	156	90999											
SLC9A6	10479	broad.mit.edu	37	chrX	135106525	135106525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatttgccttggccattcGagatactgccacttatgcac	8	12	9	12	1	0	1	0	0	0	1	1	2	0	1	3	2	4	2	3	2	2	5			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:135106525G>A	ENST00000370695.4	+	12	1534	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q	SLC9A6_ENST00000370701.1_Missense_Mutation_p.R448Q|SLC9A6_ENST00000370698.3_Missense_Mutation_p.R468Q	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	468					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGGCCATTCGAGATACTGCC	0.453													32	26					0	0	0	0	A	135106525	G	A	135106525	3	1	469	1	0	0	0	0	1	0	0	0	14806	1058	37	1	1545	1	SLC9A6	23	135106525	Missense_Mutation	SNP	G	TCGA-P3-A6T7-01A-11D-A34J-08		135106525	20164035	157	91000											
MAGEC1	9947	broad.mit.edu	37	chrX	140994457	140994457	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctctactttattgagtAttttacagagttctcctgag	8	18	6	9	0	3	3	0	2	3	1	5	3	3	3	2	0	2	2	2	0	4	8			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994457A>C	ENST00000285879.4	+	4	1553	c.1267A>C	c.(1267-1269)Att>Ctt	p.I423L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	423							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATTGAGTATTTTACAGAG	0.463										HNSCC(15;0.026)			25	79					0	0	0	0	C	140994457	A	C	140994457	3	2	469	1	0	0	0	0	1	0	0	0	9249	449	16	5	1273	5	MAGEC1	23	140994457	Missense_Mutation	SNP	A	TCGA-P3-A6T7-01A-11D-A34J-08	5887932	140994457	14276103	158	91001			1	150		4	3	201	N	GCT_C_A	5.378923e-07
MAGEC1	9947	broad.mit.edu	37	chrX	140994638	140994640	+	In_Frame_Del	DEL	GCT	GCT	-																															tcctctccagattcctgtgaGctcctcctcctcctcctcca																								rs144357389	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994638_140994640delGCT	ENST00000285879.4	+	4	1734_1736	c.1448_1450delGCT	c.(1447-1452)acc>a	p.SS487del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTGTGAGCTCCTCCTCCTC	0.473										HNSCC(15;0.026)			10	100	---	---	---	---					-	140994640	GCT	-	140994638	7	5	469	1	0	1	0	1	0	0	0	0	9249	971	34	0	1454	0	MAGEC1	23	140994638	In_Frame_Del	DEL	GCT	TCGA-P3-A6T7-01A-11D-A34J-08	181	140994638	14275922	159	91002			1	150		4	3	201	N	GCT_C_A	5.378923e-07
MAGEC1	9947	broad.mit.edu	37	chrX	140994650	140994650	+	Missense_Mutation	SNP	C	C	T																															tcctgtgagctcctcctcctCctcctccactttattgagtc																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994650C>T	ENST00000285879.4	+	4	1746	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCCTCCTCCACT	0.478										HNSCC(15;0.026)			26	91					0	0	0	0	T	140994650	C	T	140994650	3	4	469	1	0	0	0	0	1	0	0	0	9249	855	30	2	1466	2	MAGEC1	23	140994650	Missense_Mutation	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	12	140994650	14275910	160	91003	1113	2	1	150		4	3	201	N	GCT_C_A	5.378923e-07
MAGEC1	9947	broad.mit.edu	37	chrX	140994657	140994657	+	Silent	SNP	C	C	T																															agctcctcctcctcctcctcCactttattgagtcttttcca																										TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994657C>T	ENST00000285879.4	+	4	1753	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	489							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCTCCACTTTATTGA	0.493										HNSCC(15;0.026)			34	94					0	0	0	0	T	140994657	C	T	140994657	2	4	469	1	0	0	0	0	0	0	0	1	9249	581	21	4		4	MAGEC1	23	140994657	Silent	SNP	C	TCGA-P3-A6T7-01A-11D-A34J-08	7	140994657	14275903	161	91004	1113	2	1	150		4	3	201	N	GCT_C_A	5.378923e-07
IDS	3423	broad.mit.edu	37	chrX	148582533	148582533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaggtggaaaagaccagcTatacggagaatcatcggtat	16	8	11	6	2	1	2	1	0	0	2	2	4	1	3	1	4	2	2	1	4	7	4			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:148582533T>A	ENST00000340855.6	-	4	663	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.S152C|IDS_ENST00000370443.4_Missense_Mutation_p.S152C|IDS_ENST00000490775.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	152						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAAGACCAGCTATACGGAGAA	0.388													23	29					0	0	0	0	A	148582533	T	A	148582533	3	1	469	1	0	0	0	0	1	0	0	0	7556	1522	53	5	1252	5	IDS	23	148582533	Missense_Mutation	SNP	T	TCGA-P3-A6T7-01A-11D-A34J-08	7587876	148582533	6688027	162	91005											
TTLL10	254173	broad.mit.edu	37	chr1	1118297	1118297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcccacagcctccaaccagGgcaaaggcatcttcctgctc	10	6	8	17	0	1	0	0	0	1	0	4	0	3	0	5	2	4	3	5	2	2	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:1118297G>A	ENST00000379290.1	+	11	1131	c.958G>A	c.(958-960)Ggc>Agc	p.G320S	TTLL10_ENST00000379288.3_Missense_Mutation_p.G247S|TTLL10_ENST00000379289.1_Missense_Mutation_p.G320S			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	320	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCAACCAGGGCAAAGGCAT	0.647													4	3					0	0	0	0	A	1118297	G	A	1118297	3	1	470	1	0	0	0	0	1	0	0	0	16819	1232	43	4	988	4	TTLL10	1	1118297	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08		1118297	248132324	1	91006											
CELA2B	51032	broad.mit.edu	37	chr1	15812463	15812463	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactatgccacctgctcCagctctggctggtggggcag	5	9	15	12	0	1	0	0	0	1	0	2	1	2	1	3	5	3	4	3	5	1	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:15812463C>A	ENST00000375910.3	+	6	586	c.561C>A	c.(559-561)tcC>tcA	p.S187S		NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	187	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CCACCTGCTCCAGCTCTGGCT	0.572													110	133					2.25818e-43	2.50171e-43	1	0	A	15812463	C	A	15812463	2	1	470	1	0	0	0	0	0	0	0	1	3241	581	21	4		4	CELA2B	1	15812463	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	14694166	15812463	233438158	2	91007											
PAQR7	164091	broad.mit.edu	37	chr1	26190120	26190120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtccagacattcacggcctCgttgtgctgctggaacagcg	7	9	13	12	3	1	1	1	0	0	1	3	2	2	2	2	3	4	3	2	3	1	2	rs149765684	byFrequency	TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:26190120C>T	ENST00000374296.3	-	2	877	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	71					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.E71K(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACGGCCTCGTTGTGCTGC	0.642													11	46					0	0	0	0	T	26190120	C	T	26190120	3	4	470	1	0	0	0	0	1	0	0	0	11511	893	31	1	833	1	PAQR7	1	26190120	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	10377657	26190120	223060501	3	91008											
MAP7D1	55700	broad.mit.edu	37	chr1	36636622	36636622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccttctccagaaggtgacCcttcccccccaccaccacca	9	6	5	21	0	1	2	0	1	1	1	3	3	2	2	9	1	0	0	9	1	1	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:36636622C>T	ENST00000316156.4	+	2	550	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MAP7D1_ENST00000373150.4_Missense_Mutation_p.P33S|MAP7D1_ENST00000373151.2_Missense_Mutation_p.P33S			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	33	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGAAGGTGACCCTTCCCCCCC	0.602													28	37					0	0	0	0	T	36636622	C	T	36636622	3	4	470	1	0	0	0	0	1	0	0	0	9336	623	22	4	103	4	MAP7D1	1	36636622	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	10446502	36636622	212613999	4	91009											
FLG	2312	broad.mit.edu	37	chr1	152277201	152277201	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgagtgctcacctggtaGaggaaagaccctgaacgtcc	11	8	11	11	1	2	4	2	2	0	2	3	5	3	5	3	2	2	2	3	2	3	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:152277201G>C	ENST00000368799.1	-	3	10196	c.10161C>G	c.(10159-10161)ctC>ctG	p.L3387L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612									Ichthyosis				77	332					0	0	0	0	C	152277201	G	C	152277201	2	2	470	1	0	0	0	0	0	0	0	1	5967	929	33	2		2	FLG	1	152277201	Silent	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	115640579	152277201	96973420	5	91010											
ZBTB41	360023	broad.mit.edu	37	chr1	197128614	197128614	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtcgaactgggtgaactaTatttgcaggttgaggagtaa	12	11	14	4	1	0	2	0	2	0	0	1	4	0	3	0	4	3	3	0	4	5	5			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:197128614T>C	ENST00000367405.4	-	10	2673	c.2605A>G	c.(2605-2607)Ata>Gta	p.I869V	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGGTGAACTATATTTGCAGGT	0.408													20	145					0	0	0	0	C	197128614	T	C	197128614	3	2	470	1	0	0	0	0	1	0	0	0	17638	1406	49	5	128	5	ZBTB41	1	197128614	Missense_Mutation	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08	44851413	197128614	52122007	6	91011											
LAX1	54900	broad.mit.edu	37	chr1	203740566	203740566	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccagacaaagagccaaaAatatttatgacatcttgcct	18	9	5	9	0	1	3	0	1	1	2	1	3	1	3	3	0	3	0	3	0	6	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:203740566A>C	ENST00000442561.2	+	3	661	c.271A>C	c.(271-273)Aat>Cat	p.N91H	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.N75H	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	91					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAGCCAAAAATATTTATGA	0.463													38	190					0	0	0	0	C	203740566	A	C	203740566	3	2	470	1	0	0	0	0	1	0	0	0	8701	14	1	5	326	5	LAX1	1	203740566	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	6611952	203740566	45510055	7	91012											
CR1L	1379	broad.mit.edu	37	chr1	207870959	207870959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcccggctacgacctcaGaggatctacgtatttgcact	9	10	10	12	3	2	2	1	1	1	1	2	4	2	3	2	2	4	3	2	2	3	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:207870959G>A	ENST00000508064.2	+	6	1034	c.974G>A	c.(973-975)aGa>aAa	p.R325K	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	325	Sushi 5.					cytoplasm|extracellular region|membrane		p.R333T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TACGACCTCAGAGGATCTACG	0.547													32	160					0	0	0	0	A	207870959	G	A	207870959	3	1	470	1	0	0	0	0	1	0	0	0	3871	942	33	2	996	2	CR1L	1	207870959	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	4130393	207870959	41379662	8	91013											
C1orf65	164127	broad.mit.edu	37	chr1	223567513	223567513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcccttggcctccagCaaagagatgcggagcccgca	9	5	11	16	2	0	1	0	0	0	1	2	3	2	2	5	2	4	2	5	2	1	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:223567513C>G	ENST00000366875.3	+	1	799	c.696C>G	c.(694-696)agC>agG	p.S232R		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	232										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGGCCTCCAGCAAAGAGATGC	0.622													4	53					0	0	0	0	G	223567513	C	G	223567513	3	3	470	1	0	0	0	0	1	0	0	0	2075	709	25	4	698	4	C1orf65	1	223567513	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	15696554	223567513	25683108	9	91014											
OR2T33	391195	broad.mit.edu	37	chr1	248436936	248436936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgagggaaagttggctcaGgaggaagtacatgggcgtgt	11	8	17	5	1	1	1	1	1	0	0	1	4	1	4	0	5	1	3	0	5	3	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:248436936G>A	ENST00000318021.2	-	1	202	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGTTGGCTCAGGAGGAAGTAC	0.542													10	83					0	0	0	0	A	248436936	G	A	248436936	2	1	470	1	0	0	0	0	0	0	0	1	11095	991	35	4		4	OR2T33	1	248436936	Silent	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	24869423	248436936	813685	10	91015											
LHCGR	3973	broad.mit.edu	37	chr2	48914852	48914852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagttaacactctgtgtagCgagtcttgtctaggagagct	10	12	11	8	1	3	1	0	0	3	1	3	3	3	1	0	1	3	3	0	1	3	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:48914852C>T	ENST00000294954.7	-	11	2105	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.R668H|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R633H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	695					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTCTGTGTAGCGAGTCTTGTC	0.373													18	65					0	0	0	0	T	48914852	C	T	48914852	3	4	470	1	0	0	0	0	1	0	0	0	8816	768	27	1	19	1	LHCGR	2	48914852	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08		48914852	194284521	11	91016											
SMYD5	10322	broad.mit.edu	37	chr2	73453047	73453047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagccagaagatgcagaGctgggggatgagatgactga	13	5	18	5	0	0	7	0	3	0	5	0	10	0	8	1	3	3	2	1	3	1	0			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:73453047G>C	ENST00000389501.4	+	13	1275	c.1230G>C	c.(1228-1230)gaG>gaC	p.E410D		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	410	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AAGATGCAGAGCTGGGGGATG	0.577													5	37					0	0	0	0	C	73453047	G	C	73453047	3	2	470	1	0	0	0	0	1	0	0	0	14913	962	34	4	1280	4	SMYD5	2	73453047	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	24538195	73453047	169746326	12	91017											
LRP1B	53353	broad.mit.edu	37	chr2	141643854	141643854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttttgtgaagatcaaTccttctgatctcatgacgaa	10	15	7	9	1	4	4	2	3	3	1	7	5	5	4	1	0	0	0	1	0	3	3			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:141643854T>C	ENST00000389484.3	-	24	4788	c.3817A>G	c.(3817-3819)Att>Gtt	p.I1273V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1273					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAAGATCAATCCTTCTGATC	0.308										TSP Lung(27;0.18)			12	28					0	0	0	0	C	141643854	T	C	141643854	3	2	470	1	0	0	0	0	1	0	0	0	9019	1435	50	5	10254	5	LRP1B	2	141643854	Missense_Mutation	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08	68190807	141643854	101555519	13	91018											
AGPS	8540	broad.mit.edu	37	chr2	178305725	178305725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagttaagattgtgaatCtagcttgcaaatataatctt	14	16	7	4	0	2	2	0	1	2	1	2	2	2	2	0	0	2	4	0	0	7	8			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178305725C>T	ENST00000264167.4	+	6	816	c.670C>T	c.(670-672)Cta>Tta	p.L224L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	224	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GATTGTGAATCTAGCTTGCAA	0.269													31	65					0	0	0	0	T	178305725	C	T	178305725	2	4	470	1	0	0	0	0	0	0	0	1	394	912	32	2		2	AGPS	2	178305725	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	36661871	178305725	64893648	14	91019											
PDE11A	50940	broad.mit.edu	37	chr2	178684957	178684957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctcttaccaattatttgGtggttgctattccaaatagg	10	16	7	8	0	1	0	0	0	1	0	3	0	2	0	2	3	2	2	2	3	6	7			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178684957G>T	ENST00000286063.5	-	7	1883	c.1566C>A	c.(1564-1566)caC>caA	p.H522Q	PDE11A_ENST00000449286.2_Missense_Mutation_p.H164Q|PDE11A_ENST00000358450.4_Missense_Mutation_p.H272Q|PDE11A_ENST00000409504.1_Missense_Mutation_p.H164Q|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Missense_Mutation_p.H78Q	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	522	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CAATTATTTGGTGGTTGCTAT	0.313									Primary Pigmented Nodular Adrenocortical Disease, Familial				52	80					2.37494e-14	2.58047e-14	1	0	T	178684957	G	T	178684957	3	4	470	1	0	0	0	0	1	0	0	0	11702	1252	44	4	1291	4	PDE11A	2	178684957	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	379232	178684957	64514416	15	91020											
RBM45	129831	broad.mit.edu	37	chr2	178988612	178988612	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcttgcatcaatggtgtgGaataacccaagtcagcaaca	14	8	9	10	0	2	0	2	0	0	0	2	1	2	1	1	2	5	3	1	2	5	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178988612G>A	ENST00000286070.5	+	7	1133	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	349					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAATGGTGTGGAATAACCCAA	0.308													14	86					0	0	0	0	A	178988612	G	A	178988612	4	1	470	1	0	0	0	0	0	1	0	0	13221	1183	41	2	1067	2	RBM45	2	178988612	Nonsense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	303655	178988612	64210761	16	91021											
CCDC141	285025	broad.mit.edu	37	chr2	179742694	179742694	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatgccattcttaccatAtttattaaattaaggaactc	14	17	3	7	0	1	0	0	0	1	0	2	1	1	1	2	1	3	0	2	1	8	9			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:179742694A>T	ENST00000420890.2	-	12	2013	c.1896T>A	c.(1894-1896)aaT>aaA	p.N632K	CCDC141_ENST00000295723.5_Missense_Mutation_p.N57K|CCDC141_ENST00000409284.1_Missense_Mutation_p.N632K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	57							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTTACCATATTTATTAAAT	0.358													19	89					0	0	0	0	T	179742694	A	T	179742694	3	4	470	1	0	0	0	0	1	0	0	0	2800	446	16	5	2504	5	CCDC141	2	179742694	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	754082	179742694	63456679	17	91022											
DNAH7	56171	broad.mit.edu	37	chr2	196834727	196834727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagccttttttaggtacCgctgaacatcctgaagatct	9	15	8	9	1	1	4	0	3	1	1	2	4	2	4	3	1	3	2	3	1	4	5			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:196834727C>T	ENST00000312428.6	-	17	2250	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	717	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTAGGTACCGCTGAACATC	0.328													18	79					0	0	0	0	T	196834727	C	T	196834727	3	4	470	1	0	0	0	0	1	0	0	0	4642	652	23	1	10120	1	DNAH7	2	196834727	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	17092033	196834727	46364646	18	91023											
IGSF11	152404	broad.mit.edu	37	chr3	118621791	118621791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttggcagaagaacacttgGgtggaagatcatcctctctg	10	11	11	9	0	2	3	1	0	1	3	4	4	3	4	1	3	1	1	1	3	3	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr3:118621791G>A	ENST00000354673.2	-	9	1249	c.869C>T	c.(868-870)cCc>cTc	p.P290L	IGSF11_ENST00000425327.2_Missense_Mutation_p.P290L|IGSF11_ENST00000491903.1_Missense_Mutation_p.P263L|IGSF11_ENST00000441144.2_Missense_Mutation_p.P266L|IGSF11_ENST00000393775.2_Missense_Mutation_p.P291L|IGSF11_ENST00000489689.1_Missense_Mutation_p.P267L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	291					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAACACTTGGGTGGAAGATC	0.418													13	57					0	0	0	0	A	118621791	G	A	118621791	3	1	470	1	0	0	0	0	1	0	0	0	7651	1232	43	4	427	4	IGSF11	3	118621791	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08		118621791	79400639	19	91024											
ZBBX	79740	broad.mit.edu	37	chr3	167031869	167031869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggatgccattttcatatGgaaagctattcttctgacaa	12	14	8	7	0	3	1	1	1	2	0	3	4	3	3	1	2	2	1	1	2	4	6			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr3:167031869G>A	ENST00000392766.2	-	16	1650	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	ZBBX_ENST00000455345.2_Missense_Mutation_p.P437L|ZBBX_ENST00000392767.2_Missense_Mutation_p.P437L|ZBBX_ENST00000307529.5_Missense_Mutation_p.P437L|ZBBX_ENST00000392764.1_Missense_Mutation_p.P408L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	437						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTCATATGGAAAGCTATT	0.284													29	139					0	0	0	0	A	167031869	G	A	167031869	3	1	470	1	0	0	0	0	1	0	0	0	17612	1348	47	4	1116	4	ZBBX	3	167031869	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	48410078	167031869	30990561	20	91025											
FAM13A	10144	broad.mit.edu	37	chr4	89702359	89702359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcagaaagtttagtaCtggatttctgacgtttaggc	11	13	11	6	1	2	2	1	1	1	1	2	4	2	3	0	2	2	4	0	2	5	6			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:89702359C>A	ENST00000264344.5	-	11	1622	c.1415G>T	c.(1414-1416)aGt>aTt	p.S472I	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000503556.1_Missense_Mutation_p.S132I|FAM13A_ENST00000508369.1_Missense_Mutation_p.S146I|FAM13A_ENST00000513837.1_Missense_Mutation_p.S118I|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000395002.2_Missense_Mutation_p.S146I	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	472					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAGTTTAGTACTGGATTTCTG	0.358													13	89					1.41608e-15	1.55356e-15	1	0	A	89702359	C	A	89702359	3	1	470	1	0	0	0	0	1	0	0	0	5493	565	20	4	1712	4	FAM13A	4	89702359	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08		89702359	101451917	21	91026											
METTL14	57721	broad.mit.edu	37	chr4	119631185	119631185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaccaacgcttacaaatAgcaactacaatgcagaaaca	18	7	6	10	1	0	1	0	0	0	1	0	2	0	2	1	1	7	3	1	1	8	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:119631185A>G	ENST00000388822.4	+	11	1266	c.1099A>G	c.(1099-1101)Agc>Ggc	p.S367G	METTL14_ENST00000506780.1_Missense_Mutation_p.S329G			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	367						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCTTACAAATAGCAACTACAA	0.368													25	99					0	0	0	0	G	119631185	A	G	119631185	3	3	470	1	0	0	0	0	1	0	0	0	9567	420	15	5	1141	5	METTL14	4	119631185	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	29928826	119631185	71523091	22	91027											
IL2	3558	broad.mit.edu	37	chr4	123372933	123372933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgttgagatgatgctttGacaaaaggtaatccatctgt	12	13	10	6	0	1	3	0	3	1	1	2	4	2	3	1	1	1	3	1	1	3	3			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:123372933G>C	ENST00000226730.4	-	4	720	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	146					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		ATGATGCTTTGACAAAAGGTA	0.299			T	TNFRSF17	intestinal T-cell lymphoma								4	29					0	0	0	0	C	123372933	G	C	123372933	3	2	470	1	0	0	0	0	1	0	0	0	7719	1299	45	2	29	2	IL2	4	123372933	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	3741748	123372933	67781343	23	91028											
GYPE	2996	broad.mit.edu	37	chr4	144797955	144797955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcattccaacaacaacaaGcatcacctcaaaaataacac	20	6	2	13	0	3	0	3	0	0	0	4	1	4	0	2	0	5	1	2	0	7	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:144797955G>C	ENST00000358615.4	-	3	241	c.190C>G	c.(190-192)Ctt>Gtt	p.L64V	GYPE_ENST00000437468.2_Missense_Mutation_p.L64V	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	64						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					ACAACAACAAGCATCACCTCA	0.353													3	19					0	0	0	0	C	144797955	G	C	144797955	3	2	470	1	0	0	0	0	1	0	0	0	6961	971	34	4	50	4	GYPE	4	144797955	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	21425022	144797955	46356321	24	91029											
TLR2	7097	broad.mit.edu	37	chr4	154626302	154626302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaagccattccccagcGcttctgcaagctgcggaaga	13	6	10	12	2	1	1	0	0	1	1	2	3	2	2	3	1	5	3	3	1	5	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:154626302G>A	ENST00000260010.6	+	1	3651	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	748	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				ATTCCCCAGCGCTTCTGCAAG	0.493													20	89					0	0	0	0	A	154626302	G	A	154626302	3	1	470	1	0	0	0	0	1	0	0	0	16045	1087	38	1	2245	1	TLR2	4	154626302	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	9828347	154626302	36527974	25	91030											
WDR17	116966	broad.mit.edu	37	chr4	177052705	177052705	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttttcttctatttttagTttcagtccaatctccaacca	8	21	2	10	0	4	0	1	0	3	0	6	0	5	0	3	0	1	1	3	0	4	9			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:177052705T>C	ENST00000393643.2	+	7	1166	c.913_splice	c.e7-1	p.F305_splice	WDR17_ENST00000507824.2_Splice_Site_p.F312_splice|WDR17_ENST00000280190.4_Splice_Site_p.F329_splice|WDR17_ENST00000508596.1_Splice_Site_p.F305_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	329										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTATTTTTAGTTTCAGTCCAA	0.333													15	61					0	0	0	0	C	177052705	T	C	177052705	5	2	470	1	0	0	0	0	0	0	1	0	17373	1739	60	5	1012	5	WDR17	4	177052705	Splice_Site	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08	22426403	177052705	14101571	26	91031											
SLC12A7	10723	broad.mit.edu	37	chr5	1057650	1057650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcctgtacttctcagCgatcagcttctccctggtcc	4	14	7	16	1	4	0	2	0	3	0	8	1	6	0	3	1	4	3	3	1	1	3			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:1057650C>T	ENST00000264930.5	-	22	3005	c.2962G>A	c.(2962-2964)Gct>Act	p.A988T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	988					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			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)	TACTTCTCAGCGATCAGCTTC	0.612													50	189					0	0	0	0	T	1057650	C	T	1057650	3	4	470	1	0	0	0	0	1	0	0	0	14476	768	27	1	301	1	SLC12A7	5	1057650	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08		1057650	179857610	27	91032											
WDR70	55100	broad.mit.edu	37	chr5	37396549	37396549	+	Silent	SNP	C	C	T																															ttaattggccctcctttaccCcctaaaatggtaggaaaacc																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:37396549C>T	ENST00000265107.4	+	5	525	c.369C>T	c.(367-369)ccC>ccT	p.P123P	WDR70_ENST00000504564.1_Silent_p.P123P	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	123										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCTTTACCCCCTAAAATGG	0.413													25	114					0	0	0	0	T	37396549	C	T	37396549	2	4	470	1	0	0	0	0	0	0	0	1	17417	610	22	4		4	WDR70	5	37396549	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	36338899	37396549	143518711	28	91033	1114	2									
WDR70	55100	broad.mit.edu	37	chr5	37396550	37396550	+	Missense_Mutation	SNP	C	C	T																															taattggccctcctttacccCctaaaatggtaggaaaacca																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:37396550C>T	ENST00000265107.4	+	5	526	c.370C>T	c.(370-372)Cct>Tct	p.P124S	WDR70_ENST00000504564.1_Missense_Mutation_p.P124S	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	124										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTTTACCCCCTAAAATGGT	0.408													25	114					0	0	0	0	T	37396550	C	T	37396550	3	4	470	1	0	0	0	0	1	0	0	0	17417	623	22	4	388	4	WDR70	5	37396550	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	1	37396550	143518710	29	91034	1114	2									
PCSK1	5122	broad.mit.edu	37	chr5	95728768	95728768	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggtcgtctctgtgcttgtaAggtttagtgttataaaaaac	10	15	10	6	2	1	0	0	0	1	0	3	0	1	0	0	2	2	4	0	2	6	6			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:95728768A>T	ENST00000311106.3	-	14	2436	c.2199T>A	c.(2197-2199)ccT>ccA	p.P733P	PCSK1_ENST00000508626.1_Silent_p.P686P|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	733					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGCTTGTAAGGTTTAGTGT	0.403													4	165					0	0	0	0	T	95728768	A	T	95728768	2	4	470	1	0	0	0	0	0	0	0	1	11671	59	3	5		5	PCSK1	5	95728768	Silent	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	58332218	95728768	85186492	30	91035											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768882	140768882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtcagggcttctgatccGgacttggggcccaacggcca	8	7	13	13	2	2	1	1	1	1	0	3	2	3	2	3	5	1	1	3	5	2	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:140768882G>A	ENST00000519479.1	+	1	1431	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGATCCGGACTTGGGGC	0.572													71	73					0	0	0	0	A	140768882	G	A	140768882	2	1	470	1	0	0	0	0	0	0	0	1	11636	1103	39	1		1	PCDHGB4	5	140768882	Silent	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	45040114	140768882	40146378	31	91036											
ABLIM3	22885	broad.mit.edu	37	chr5	148627423	148627423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctatgcagatccctggaccCctccccggagctccaccagc	7	6	8	20	1	0	1	0	0	0	1	3	3	3	3	8	2	3	2	8	2	1	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:148627423C>T	ENST00000506113.1	+	17	2112	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S	ABLIM3_ENST00000504238.1_Missense_Mutation_p.P433S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.P449S|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.P30S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.P433S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.P544S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.P511S|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	544					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGGACCCCTCCCCGGAG	0.607													13	39					0	0	0	0	T	148627423	C	T	148627423	3	4	470	1	0	0	0	0	1	0	0	0	96	623	22	4	1696	4	ABLIM3	5	148627423	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	7858541	148627423	32287837	32	91037											
NSD1	64324	broad.mit.edu	37	chr5	176722361	176722361	+	Frame_Shift_Del	DEL	T	T	-																															ttggcacagacttgctggtcTcttggaagagggcaagaccc																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:176722361delT	ENST00000439151.2	+	23	8037	c.7992delT	c.(7990-7992)tcfs	p.S2664fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.S2395fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.S2395fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.S2561fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2664					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTTGCTGGTCTCTTGGAAGAG	0.537			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	38	---	---	---	---					-	176722361	T	-	176722361	7	5	470	1	0	1	0	1	0	0	0	0	10740	1538	54	0	8078	0	NSD1	5	176722361	Frame_Shift_Del	DEL	T	TCGA-P3-A6T8-01A-11D-A34J-08	28094938	176722361	4192899	33	91038											
TNXB	7148	broad.mit.edu	37	chr6	32047086	32047086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggctcctcgggggactccgGggcctccgtgcccagttctg	2	8	15	16	4	1	0	0	0	1	0	5	1	4	1	5	5	1	2	5	5	0	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:32047086G>A	ENST00000375244.3	-	11	4300	c.4099C>T	c.(4099-4101)Ccg>Tcg	p.P1367S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1367S			P22105	TENX_HUMAN	tenascin XB	1454	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGACTCCGGGGCCTCCGTG	0.642													17	44					0	0	0	0	A	32047086	G	A	32047086	3	1	470	1	0	0	0	0	1	0	0	0	16440	1232	43	4	10750	4	TNXB	6	32047086	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08		32047086	139067981	34	91039											
RSPH9	221421	broad.mit.edu	37	chr6	43638684	43638684	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacttgcccttcatgctaTagaatgggagccagcctgga	9	10	12	10	0	1	1	1	0	0	1	1	4	1	4	3	3	4	1	3	3	3	4	rs141935442		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:43638684T>C	ENST00000372163.4	+	5	882	c.829T>C	c.(829-831)Tag>Cag	p.*277Q	RSPH9_ENST00000372165.4_Missense_Mutation_p.I294T	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTTCATGCTATAGAATGGGAG	0.493									Kartagener syndrome				5	37					0	0	0	0	C	43638684	T	C	43638684	4	2	470	1	0	0	0	0	0	0	0	0	13793	1419	49	5	847	5	RSPH9	6	43638684	Nonstop_Mutation	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08	11591598	43638684	127476383	35	91040											
TCTE1	202500	broad.mit.edu	37	chr6	44249930	44249930	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacaggagtgtggcggtggGctcagacagctcattgccac	8	8	15	10	1	2	2	2	1	0	1	2	3	2	3	1	4	2	2	1	4	0	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:44249930G>C	ENST00000371505.4	-	4	1335	c.1213C>G	c.(1213-1215)Ccc>Gcc	p.P405A	TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	405										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGGCGGTGGGCTCAGACAGC	0.597													10	41					0	0	0	0	C	44249930	G	C	44249930	3	2	470	1	0	0	0	0	1	0	0	0	15811	1203	42	4	300	4	TCTE1	6	44249930	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	611246	44249930	126865137	36	91041											
CYP39A1	51302	broad.mit.edu	37	chr6	46604171	46604171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcttttatatctggaatGtttttctcaaacagttccag	10	17	6	8	0	2	0	1	0	2	0	4	1	3	1	1	1	2	3	1	1	4	6			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:46604171G>T	ENST00000275016.2	-	5	890	c.687C>A	c.(685-687)aaC>aaA	p.N229K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	229					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TATCTGGAATGTTTTTCTCAA	0.274													35	134					6.70999e-13	7.1531e-13	1	0	T	46604171	G	T	46604171	3	4	470	1	0	0	0	0	1	0	0	0	4209	1368	48	4	754	4	CYP39A1	6	46604171	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	2354241	46604171	124510896	37	91042											
AIM1	202	broad.mit.edu	37	chr6	106967047	106967047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactaaatcttaaaacccCtaagaatcttgacagtttgg	15	11	7	8	0	2	2	0	1	2	1	2	3	2	3	2	2	2	1	2	2	7	5			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:106967047C>T	ENST00000369066.3	+	2	1227	c.740C>T	c.(739-741)cCt>cTt	p.P247L		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	247							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTTAAAACCCCTAAGAATCTT	0.403													7	63					0	0	0	0	T	106967047	C	T	106967047	3	4	470	1	0	0	0	0	1	0	0	0	430	681	24	4	746	4	AIM1	6	106967047	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	60362876	106967047	64148020	38	91043											
AKAP7	9465	broad.mit.edu	37	chr6	131520706	131520706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaatcaccgtggctccGtaagaatgtgagtgcatgtt	11	11	11	8	2	2	2	2	1	0	1	3	2	3	2	2	1	1	4	2	1	4	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:131520706G>A	ENST00000431975.2	+	6	793	c.695G>A	c.(694-696)cGt>cAt	p.R232H	AKAP7_ENST00000368123.4_Missense_Mutation_p.R210H|AKAP7_ENST00000541650.1_Missense_Mutation_p.R231H	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CCGTGGCTCCGTAAGAATGTG	0.453											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	31					0	0	0	0	A	131520706	G	A	131520706	3	1	470	1	0	0	0	0	1	0	0	0	456	1145	40	1	647	1	AKAP7	6	131520706	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	24553659	131520706	39594361	39	91044											
PDE10A	10846	broad.mit.edu	37	chr6	165827065	165827065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgttttagagaaggcaCtgccactgattttgttgacc	9	14	9	9	0	1	3	0	2	1	1	1	4	1	3	2	1	1	3	2	1	2	5			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:165827065C>T	ENST00000366882.1	-	14	1326	c.1172G>A	c.(1171-1173)aGt>aAt	p.S391N	PDE10A_ENST00000354448.4_Missense_Mutation_p.S391N|PDE10A_ENST00000539869.2_Missense_Mutation_p.S401N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	391	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.S391T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAGAAGGCACTGCCACTGAT	0.443													13	80					0	0	0	0	T	165827065	C	T	165827065	3	4	470	1	0	0	0	0	1	0	0	0	11701	565	20	4	1207	4	PDE10A	6	165827065	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	34306359	165827065	5288002	40	91045											
PLEKHA8	84725	broad.mit.edu	37	chr7	30090065	30090066	+	Frame_Shift_Ins	INS	-	-	T																															aaagatgaaacatcctattaINStaccaattcataattcattg																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:30090065_30090066insT	ENST00000449726.1	+	6	963_964	c.613_614insT	c.(613-615)accfs	p.T205fs	PLEKHA8_ENST00000258679.7_Frame_Shift_Ins_p.T205fs|PLEKHA8_ENST00000396257.2_Frame_Shift_Ins_p.T205fs|PLEKHA8_ENST00000396259.1_Frame_Shift_Ins_p.T205fs	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	205					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						ACATCCTATTATACCAATTCAT	0.248													10	22	---	---	---	---					T	30090066	-	T	30090065	7	5	470	1	0	1	1	0	0	0	0	0	12134	449	16	0	635	0	PLEKHA8	7	30090065	Frame_Shift_Ins	INS	-	TCGA-P3-A6T8-01A-11D-A34J-08		30090065	129048598	41	91046											
TRRAP	8295	broad.mit.edu	37	chr7	98581772	98581772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcccagttcaaataacgctAtgcttggggttcatgcatca	11	12	8	10	1	3	0	3	0	0	0	4	0	4	0	1	2	3	5	1	2	3	5			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:98581772A>G	ENST00000359863.4	+	60	9300	c.9091A>G	c.(9091-9093)Atg>Gtg	p.M3031V	TRRAP_ENST00000446306.3_Missense_Mutation_p.M3002V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M3002V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3031	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATAACGCTATGCTTGGGGT	0.453													30	68					0	0	0	0	G	98581772	A	G	98581772	3	3	470	1	0	0	0	0	1	0	0	0	16696	449	16	5	9234	5	TRRAP	7	98581772	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	68491707	98581772	60556891	42	91047											
ZAN	7455	broad.mit.edu	37	chr7	100365577	100365577	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcgctacgacgggagcCacttggtggaagtgacagtc	10	8	14	9	3	0	1	0	1	0	0	2	4	0	3	1	3	2	2	1	3	3	3			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:100365577C>T	ENST00000542585.1	+	0	5132				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGACGGGAGCCACTTGGTGGA	0.597													7	20					0	0	0	0	T	100365577	C	T	100365577	1	4	470	0	1	0	0	0	0	0	0	0	17609	594	21	4		4	ZAN	7	100365577	RNA	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	1783805	100365577	58773086	43	91048											
FEZF1	389549	broad.mit.edu	37	chr7	121942936	121942936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtatgagtgtttaaagtgGaacttctattaaatgctttg	11	16	11	3	0	1	1	0	1	1	0	1	2	1	2	0	2	2	3	0	2	7	7			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:121942936G>A	ENST00000442488.2	-	3	1053	c.986C>T	c.(985-987)tCc>tTc	p.S329F	FEZF1_ENST00000427185.2_Missense_Mutation_p.S279F|FEZF1_ENST00000331178.4_Missense_Mutation_p.S325F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	329					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GTTTAAAGTGGAACTTCTATT	0.383													11	84					0	0	0	0	A	121942936	G	A	121942936	3	1	470	1	0	0	0	0	1	0	0	0	5870	1174	41	2	449	2	FEZF1	7	121942936	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	21577359	121942936	37195727	44	91049											
LRRCC1	85444	broad.mit.edu	37	chr8	86044107	86044107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgataaaagaataccaaGagaaaattgacgtgttaagc	21	8	8	4	1	0	4	0	2	0	2	0	5	0	4	1	0	2	1	1	0	9	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:86044107G>A	ENST00000414626.2	+	11	2708	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.E627K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	627					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAATACCAAGAGAAAATTGA	0.353													12	51					0	0	0	0	A	86044107	G	A	86044107	3	1	470	1	0	0	0	0	1	0	0	0	9090	943	33	2	1925	2	LRRCC1	8	86044107	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08		86044107	60319915	45	91050											
ODF1	4956	broad.mit.edu	37	chr8	103564042	103564042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaactgagatgcatcgaCgaatttagcacacggtgcct	12	8	11	10	3	0	1	0	1	0	1	1	4	0	1	1	2	4	3	1	2	3	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:103564042C>T	ENST00000285402.3	+	1	243	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	29					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATGCATCGACGAATTTAGCA	0.493													37	108					0	0	0	0	T	103564042	C	T	103564042	2	4	470	1	0	0	0	0	0	0	0	1	10897	535	19	1		1	ODF1	8	103564042	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	17519935	103564042	42799980	46	91051											
SNTB1	6641	broad.mit.edu	37	chr8	121561179	121561179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggggtgatccctttcCtggacctgaatggaccagcc	7	9	12	13	0	0	2	0	2	0	0	2	4	2	4	6	4	2	0	6	4	1	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:121561179C>T	ENST00000395601.3	-	6	1570	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	SNTB1_ENST00000517992.1_Missense_Mutation_p.G386R	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	386	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCCCTTTCCTGGACCTGAA	0.493													11	36					0	0	0	0	T	121561179	C	T	121561179	3	4	470	1	0	0	0	0	1	0	0	0	14960	690	24	4	472	4	SNTB1	8	121561179	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	17997137	121561179	24802843	47	91052											
COL22A1	169044	broad.mit.edu	37	chr8	139626118	139626118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaaaactcaccggtgggcCccttggtccttggggaccct	7	8	12	14	1	1	0	1	0	0	0	2	1	2	1	5	5	2	1	5	5	2	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:139626118C>T	ENST00000303045.6	-	56	4416	c.3970G>A	c.(3970-3972)Ggc>Agc	p.G1324S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1304S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1324	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGTGGGCCCCTTGGTCCT	0.493										HNSCC(7;0.00092)			33	119					0	0	0	0	T	139626118	C	T	139626118	3	4	470	1	0	0	0	0	1	0	0	0	3711	623	22	4	950	4	COL22A1	8	139626118	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	18064939	139626118	6737904	48	91053											
ADCK5	203054	broad.mit.edu	37	chr8	145616448	145616448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcacagagccaagctgCacgatggcaccagcgtggct	10	5	14	12	2	0	1	0	0	0	1	0	2	0	1	2	3	5	5	2	3	1	0			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:145616448C>T	ENST00000308860.6	+	6	702	c.658C>T	c.(658-660)Cac>Tac	p.H220Y	ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	220	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGCCAAGCTGCACGATGGCAC	0.632													15	68					0	0	0	0	T	145616448	C	T	145616448	3	4	470	1	0	0	0	0	1	0	0	0	291	710	25	4	680	4	ADCK5	8	145616448	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	5990330	145616448	747574	49	91054											
NUP188	23511	broad.mit.edu	37	chr9	131757647	131757647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgaagaaattttccatcGagaaacgctttgcctactgg	12	11	8	10	2	0	3	0	1	0	2	2	4	1	3	2	1	3	1	2	1	4	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:131757647G>A	ENST00000372577.2	+	30	3226	c.3205G>A	c.(3205-3207)Gag>Aag	p.E1069K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1069					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATTTTCCATCGAGAAACGCTT	0.443													37	136					0	0	0	0	A	131757647	G	A	131757647	3	1	470	1	0	0	0	0	1	0	0	0	10829	1059	37	1	3323	1	NUP188	9	131757647	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08		131757647	9455784	50	91055											
NOTCH1	4851	broad.mit.edu	37	chr9	139409811	139409817	+	Frame_Shift_Del	DEL	GGCTGCT	GGCTGCT	-																															acaggtgcccgagtcgcaggGgctgctggcacagtcatcca																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:139409811_139409817delGGCTGCT	ENST00000277541.6	-	12	2014_2020	c.1939_1945delAGCAGCC	c.(1939-1947)ccfs	p.SSP647fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	647	EGF-like 17; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGTCGCAGGGGCTGCTGGCACAGTCA	0.676			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			29	43	---	---	---	---					-	139409817	GGCTGCT	-	139409811	7	5	470	1	0	1	0	1	0	0	0	0	10617	1232	43	0	5814	0	NOTCH1	9	139409811	Frame_Shift_Del	DEL	GGCTGCT	TCGA-P3-A6T8-01A-11D-A34J-08	7652164	139409811	1803620	51	91056											
ADARB2	105	broad.mit.edu	37	chr10	1405854	1405854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaccggggcatgcaccgggCccgtctgcgacactgtccgg	6	5	15	15	5	1	1	0	0	1	1	2	2	2	1	4	4	2	2	4	4	0	0			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:1405854C>T	ENST00000381312.1	-	3	771	c.446G>A	c.(445-447)gGc>gAc	p.G149D		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	149	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ATGCACCGGGCCCGTCTGCGA	0.682													7	18					0	0	0	0	T	1405854	C	T	1405854	3	4	470	1	0	0	0	0	1	0	0	0	283	739	26	4	1805	4	ADARB2	10	1405854	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08		1405854	134128893	52	91057											
ZNF37A	7587	broad.mit.edu	37	chr10	38407507	38407507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgaatgtgggaaaaccttCcgtcagaagtcagccctaat	14	9	9	9	1	2	2	2	1	0	1	3	3	3	3	3	1	2	0	3	1	6	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:38407507C>T	ENST00000351773.3	+	8	2258	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	ZNF37A_ENST00000361085.4_Silent_p.F476F	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GGAAAACCTTCCGTCAGAAGT	0.403													12	47					0	0	0	0	T	38407507	C	T	38407507	2	4	470	1	0	0	0	0	0	0	0	1	17967	854	30	2		2	ZNF37A	10	38407507	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	37001653	38407507	97127240	53	91058											
SPOCK2	9806	broad.mit.edu	37	chr10	73826746	73826756	+	Frame_Shift_Del	DEL	CAGACCTCGTA	CAGACCTCGTA	-																															agttgaagaagggacggatgCagacctcgtacttgtccagg																								rs139142132	by1000genomes	TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:73826746_73826756delCAGACCTCGTA	ENST00000373109.2	-	8	1276_1286	c.832_842delTACGAGGTCTG	c.(832-843)cfs	p.YEVC278fs	SPOCK2_ENST00000317376.4_Frame_Shift_Del_p.YEVC278fs|SPOCK2_ENST00000536168.1_Frame_Shift_Del_p.YEVC278fs|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	278					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGACGGATGCAGACCTCGTACTTGTCCAGG	0.583													14	83	---	---	---	---					-	73826756	CAGACCTCGTA	-	73826746	7	5	470	1	0	1	0	1	0	0	0	0	15170	710	25	0	448	0	SPOCK2	10	73826746	Frame_Shift_Del	DEL	CAGACCTCGTA	TCGA-P3-A6T8-01A-11D-A34J-08	35419239	73826746	61708001	54	91059											
OR10Q1	219960	broad.mit.edu	37	chr11	57995838	57995838	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggccgcaaaagggCagggtgaagattaaggcggt	10	7	19	5	2	0	2	0	1	0	1	0	2	0	2	1	7	0	2	1	7	4	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:57995838C>A	ENST00000316770.2	-	1	552	c.510G>T	c.(508-510)ctG>ctT	p.L170L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGCAAAAGGGCAGGGTGAAGA	0.657													11	27					4.68919e-08	4.86127e-08	1	0	A	57995838	C	A	57995838	2	1	470	1	0	0	0	0	0	0	0	1	10987	697	25	4		4	OR10Q1	11	57995838	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08		57995838	77010678	55	91060											
OR4D9	390199	broad.mit.edu	37	chr11	59282758	59282758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtttgaccgctatataGccatctccaagcccctgcac	8	10	8	15	2	1	1	0	1	1	0	2	1	1	1	5	1	3	3	5	1	4	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:59282758G>A	ENST00000329328.3	+	1	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCGCTATATAGCCATCTCCAA	0.537													13	90					0	0	0	0	A	59282758	G	A	59282758	3	1	470	1	0	0	0	0	1	0	0	0	11130	971	34	4	375	4	OR4D9	11	59282758	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	1286920	59282758	75723758	56	91061											
OSBP	5007	broad.mit.edu	37	chr11	59376073	59376073	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcactgagagaacgctGcagagctgtgccatgcttag	10	8	12	11	1	1	3	1	1	0	2	1	4	1	3	1	0	6	5	1	0	2	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:59376073G>A	ENST00000263847.1	-	3	1185	c.706C>T	c.(706-708)Cag>Tag	p.Q236*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	236					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGAGAACGCTGCAGAGCTGTG	0.493													10	90					0	0	0	0	A	59376073	G	A	59376073	4	1	470	1	0	0	0	0	0	1	0	0	11344	1328	46	4	1765	4	OSBP	11	59376073	Nonsense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	93315	59376073	75630443	57	91062											
AHNAK	79026	broad.mit.edu	37	chr11	62288732	62288732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaagtcaatgtcaggcatgGagattttgggggccttgatg	10	12	14	5	0	2	2	2	1	0	1	2	3	2	2	1	4	0	1	1	4	3	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:62288732G>A	ENST00000378024.4	-	5	13431	c.13157C>T	c.(13156-13158)tCc>tTc	p.S4386F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4386					nervous system development	nucleus	protein binding			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)				GTCAGGCATGGAGATTTTGGG	0.473													44	238					0	0	0	0	A	62288732	G	A	62288732	3	1	470	1	0	0	0	0	1	0	0	0	414	1174	41	2	4635	2	AHNAK	11	62288732	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	2912659	62288732	72717784	58	91063											
CASP5	838	broad.mit.edu	37	chr11	104874022	104874024	+	In_Frame_Del	DEL	CAG	CAG	-																															tcatcatgattttttttacaCagtctcaggaattcttcacg																								rs148935912		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:104874022_104874024delCAG	ENST00000393141.2	-	4	590_592	c.559_561delCTG	c.(559-561)del	p.L187del	CASP5_ENST00000418434.1_In_Frame_Del_p.L32del|CASP5_ENST00000444749.2_In_Frame_Del_p.L116del|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000260315.3_In_Frame_Del_p.L174del|CASP5_ENST00000531367.1_In_Frame_Del_p.L32del|CASP5_ENST00000526056.1_In_Frame_Del_p.L187del	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	174					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTTTTTTACACAGTCTCAGGAAT	0.389													34	81	---	---	---	---					-	104874024	CAG	-	104874022	7	5	470	1	0	1	0	1	0	0	0	0	2699	465	17	0	806	0	CASP5	11	104874022	In_Frame_Del	DEL	CAG	TCGA-P3-A6T8-01A-11D-A34J-08	42585290	104874022	30132494	59	91064											
BCL9L	283149	broad.mit.edu	37	chr11	118769943	118769943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagccgaggggggaaGggcatcatctgggaggagct	8	6	19	8	1	2	0	1	0	1	0	2	4	2	3	1	6	4	4	1	6	1	0			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:118769943G>A	ENST00000334801.3	-	8	4645	c.3681C>T	c.(3679-3681)ccC>ccT	p.P1227P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1227	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GAGGGGGGAAGGGCATCATCT	0.716													3	4					0	0	0	0	A	118769943	G	A	118769943	2	1	470	1	0	0	0	0	0	0	0	1	1386	987	35	4		4	BCL9L	11	118769943	Silent	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	13895921	118769943	16236573	60	91065											
VWA5A	4013	broad.mit.edu	37	chr11	124007351	124007351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttttgaggataaggtgaCatttcctctacaacccaagc	12	11	8	10	0	1	2	0	2	1	0	2	4	2	3	2	2	3	0	2	2	4	5			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124007351C>T	ENST00000456829.2	+	14	1846	c.1595C>T	c.(1594-1596)aCa>aTa	p.T532I	VWA5A_ENST00000392748.1_Missense_Mutation_p.T532I|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	532										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GATAAGGTGACATTTCCTCTA	0.453													18	63					0	0	0	0	T	124007351	C	T	124007351	3	4	470	1	0	0	0	0	1	0	0	0	17338	478	17	4	1645	4	VWA5A	11	124007351	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	5237408	124007351	10999165	61	91066											
ROBO3	64221	broad.mit.edu	37	chr11	124747166	124747166	+	Missense_Mutation	SNP	C	C	T																															cccctcattttccccagtgtCcttcccgcactcagagggcc																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124747166C>T	ENST00000397801.1	+	19	2999	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.S914F	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	936					axon midline choice point recognition	integral to membrane	receptor activity			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)		TCCCCAGTGTCCTTCCCGCAC	0.607													9	84					0	0	0	0	T	124747166	C	T	124747166	3	4	470	1	0	0	0	0	1	0	0	0	13600	855	30	2	2881	2	ROBO3	11	124747166	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	739815	124747166	10259350	62	91067	1115	2									
ROBO3	64221	broad.mit.edu	37	chr11	124747167	124747167	+	Silent	SNP	C	C	T																															ccctcattttccccagtgtcCttcccgcactcagagggcct																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124747167C>T	ENST00000397801.1	+	19	3000	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Silent_p.S914S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	936					axon midline choice point recognition	integral to membrane	receptor activity			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)		CCCCAGTGTCCTTCCCGCACT	0.607													9	86					0	0	0	0	T	124747167	C	T	124747167	2	4	470	1	0	0	0	0	0	0	0	1	13600	668	24	4		4	ROBO3	11	124747167	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	1	124747167	10259349	63	91068	1115	2									
CD163	9332	broad.mit.edu	37	chr12	7647854	7647854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgagtgcagatccacatcCcagctgcctgcaaaccacat	11	9	7	14	0	0	2	0	1	0	1	2	2	2	2	4	0	5	3	4	0	1	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:7647854C>T	ENST00000359156.4	-	6	1445	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	CD163_ENST00000541972.1_Missense_Mutation_p.G403R|CD163_ENST00000432237.2_Missense_Mutation_p.G415R|CD163_ENST00000396620.3_Missense_Mutation_p.G415R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	415	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GATCCACATCCCAGCTGCCTG	0.473													25	85					0	0	0	0	T	7647854	C	T	7647854	3	4	470	1	0	0	0	0	1	0	0	0	2996	632	22	4	2271	4	CD163	12	7647854	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08		7647854	126204041	64	91069											
SLCO1C1	53919	broad.mit.edu	37	chr12	20874888	20874888	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaagtagagaggattctaAttcttcctctgagaaatcca	14	11	7	9	0	3	2	0	1	3	2	5	5	5	3	3	1	0	1	3	1	4	5			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:20874888A>T	ENST00000381552.1	+	8	1294	c.926A>T	c.(925-927)aAt>aTt	p.N309I	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N260I|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N191I|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N309I|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N309I			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	309					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAGGATTCTAATTCTTCCTCT	0.388													15	51					0	0	0	0	T	20874888	A	T	20874888	3	4	470	1	0	0	0	0	1	0	0	0	14813	101	4	5	952	5	SLCO1C1	12	20874888	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	13227034	20874888	112977007	65	91070											
TUBA1A	7846	broad.mit.edu	37	chr12	49579180	49579180	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgacatctttgggaacCacgtcaccacggtacaacag	12	8	9	12	2	2	1	1	1	1	0	2	2	2	2	2	2	3	2	2	2	3	3			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:49579180C>A	ENST00000301071.7	-	4	1313	c.969G>T	c.(967-969)gtG>gtT	p.V323V	TUBA1A_ENST00000550767.1_Silent_p.V288V|TUBA1A_ENST00000295766.5_Silent_p.V323V	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	323					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						CTTTGGGAACCACGTCACCAC	0.512													13	63					3.62473e-10	3.82799e-10	1	0	A	49579180	C	A	49579180	2	1	470	1	0	0	0	0	0	0	0	1	16839	581	21	4		4	TUBA1A	12	49579180	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	28704292	49579180	84272715	66	91071											
LGR5	8549	broad.mit.edu	37	chr12	71978308	71978308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagaaagcaaacctacGtctggacaagatcaaaacac	17	5	8	11	1	2	2	1	1	1	2	2	4	2	3	2	1	4	1	2	1	6	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:71978308G>A	ENST00000266674.5	+	18	2829	c.2518G>A	c.(2518-2520)Gtc>Atc	p.V840I	LGR5_ENST00000536515.1_Missense_Mutation_p.V768I|LGR5_ENST00000540815.2_Missense_Mutation_p.V816I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	840						integral to plasma membrane	protein-hormone receptor activity		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						GCAAACCTACGTCTGGACAAG	0.453													9	32					0	0	0	0	A	71978308	G	A	71978308	3	1	470	1	0	0	0	0	1	0	0	0	8811	1145	40	1	2588	1	LGR5	12	71978308	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	22399128	71978308	61873587	67	91072											
NAV3	89795	broad.mit.edu	37	chr12	78511895	78511895	+	Missense_Mutation	SNP	G	G	A																															accagaagaagattttgacaGccatggggatgctggtggca																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:78511895G>A	ENST00000397909.2	+	14	3031	c.2858G>A	c.(2857-2859)aGc>aAc	p.S953N	NAV3_ENST00000266692.7_Missense_Mutation_p.S953N|NAV3_ENST00000536525.2_Missense_Mutation_p.S953N|NAV3_ENST00000228327.6_Missense_Mutation_p.S953N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	953						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GATTTTGACAGCCATGGGGAT	0.502										HNSCC(70;0.22)			18	99					0	0	0	0	A	78511895	G	A	78511895	3	1	470	1	0	0	0	0	1	0	0	0	10255	971	34	4	2912	4	NAV3	12	78511895	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	6533587	78511895	55340000	68	91073	1116	2									
NAV3	89795	broad.mit.edu	37	chr12	78511896	78511896	+	Missense_Mutation	SNP	C	C	A																															ccagaagaagattttgacagCcatggggatgctggtggcaa																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:78511896C>A	ENST00000397909.2	+	14	3032	c.2859C>A	c.(2857-2859)agC>agA	p.S953R	NAV3_ENST00000266692.7_Missense_Mutation_p.S953R|NAV3_ENST00000536525.2_Missense_Mutation_p.S953R|NAV3_ENST00000228327.6_Missense_Mutation_p.S953R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	953						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTTTGACAGCCATGGGGATG	0.507										HNSCC(70;0.22)			18	96					1.67942e-08	1.75717e-08	1	0	A	78511896	C	A	78511896	3	1	470	1	0	0	0	0	1	0	0	0	10255	738	26	4	2913	4	NAV3	12	78511896	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	1	78511896	55339999	69	91074	1116	2									
TMTC3	160418	broad.mit.edu	37	chr12	88582625	88582625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttaaaattttagatgatAttggtgcccatatgaatgta	13	17	8	3	0	0	3	0	2	0	1	0	3	0	3	1	1	1	2	1	1	7	8			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:88582625A>G	ENST00000266712.6	+	11	1658	c.1438A>G	c.(1438-1440)Att>Gtt	p.I480V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	480						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTAGATGATATTGGTGCCCA	0.274													15	68					0	0	0	0	G	88582625	A	G	88582625	3	3	470	1	0	0	0	0	1	0	0	0	16356	449	16	5	1476	5	TMTC3	12	88582625	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	10070729	88582625	45269270	70	91075											
HIP1R	9026	broad.mit.edu	37	chr12	123340536	123340536	+	Frame_Shift_Del	DEL	T	T	-																															tcctcccgcaggcccagcggTacatcgcgcagctgaagagc																								rs142842850		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:123340536delT	ENST00000253083.4	+	14	1263	c.1138delT	c.(1138-1140)acfs	p.Y380fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	380					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGCCCAGCGGTACATCGCGCA	0.667													2	4	---	---	---	---					-	123340536	T	-	123340536	7	5	470	1	0	1	0	1	0	0	0	0	7165	1638	57	0	1192	0	HIP1R	12	123340536	Frame_Shift_Del	DEL	T	TCGA-P3-A6T8-01A-11D-A34J-08	34757911	123340536	10511359	71	91076											
PIWIL1	9271	broad.mit.edu	37	chr12	130833938	130833938	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagaacataaatttcaaGaacaagtttccaaagaacta	21	8	5	7	0	1	4	1	0	0	4	2	4	2	4	1	0	3	1	1	0	10	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:130833938G>C	ENST00000245255.3	+	8	1161	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	297	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAAATTTCAAGAACAAGTTTC	0.343													4	36					0	0	0	0	C	130833938	G	C	130833938	3	2	470	1	0	0	0	0	1	0	0	0	12029	943	33	2	915	2	PIWIL1	12	130833938	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	7493402	130833938	3017957	72	91077											
SMAD9	4093	broad.mit.edu	37	chr13	37427662	37427662	+	Frame_Shift_Del	DEL	A	A	-																															gagcgaagagctggttgttgAagaccttgaggctgcagccg																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr13:37427662delA	ENST00000379826.4	-	6	1496	c.1154delT	c.(1153-1155)tcfs	p.F385fs	SMAD9_ENST00000350148.5_Frame_Shift_Del_p.F348fs|SMAD9_ENST00000399275.2_Frame_Shift_Del_p.F385fs	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	385	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTGGTTGTTGAAGACCTTGAG	0.537													12	51	---	---	---	---					-	37427662	A	-	37427662	7	5	470	1	0	1	0	1	0	0	0	0	14852	246	9	0	257	0	SMAD9	13	37427662	Frame_Shift_Del	DEL	A	TCGA-P3-A6T8-01A-11D-A34J-08		37427662	77742216	73	91078											
LMO7	4008	broad.mit.edu	37	chr13	76382245	76382245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccatcagtttcacccCtggcccctgcagtgaggctg	5	9	10	17	0	2	1	2	1	0	0	3	1	3	1	6	2	1	3	6	2	0	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr13:76382245C>G	ENST00000357063.3	+	11	3242	c.1982C>G	c.(1981-1983)cCt>cGt	p.P661R	LMO7_ENST00000321797.8_Missense_Mutation_p.P376R|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.P661R|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.P376R			Q8WWI1	LMO7_HUMAN	LIM domain 7	661						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTTTCACCCCTGGCCCCTGC	0.522													10	23					0	0	0	0	G	76382245	C	G	76382245	3	3	470	1	0	0	0	0	1	0	0	0	8910	681	24	4	2024	4	LMO7	13	76382245	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	38954583	76382245	38787633	74	91079											
FBXO34	55030	broad.mit.edu	37	chr14	55817321	55817321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctccaaatgttctgtgCagtatgagtgggaagagtcc	9	13	11	8	0	2	2	0	1	2	1	4	3	3	3	2	1	1	3	2	1	3	3			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr14:55817321C>T	ENST00000313833.4	+	2	458	c.213C>T	c.(211-213)tgC>tgT	p.C71C	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.C71C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	71										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ATGTTCTGTGCAGTATGAGTG	0.463													24	83					0	0	0	0	T	55817321	C	T	55817321	2	4	470	1	0	0	0	0	0	0	0	1	5789	718	25	4		4	FBXO34	14	55817321	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08		55817321	51532219	75	91080											
SMOC1	64093	broad.mit.edu	37	chr14	70418879	70418879	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataagtgaccgtgacccaCagtgcaacctccactgctcc	11	8	7	15	1	0	2	0	2	0	0	2	2	2	2	5	0	3	2	5	0	3	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr14:70418879C>T	ENST00000381280.4	+	2	377	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Nonsense_Mutation_p.Q42*	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	42	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCGTGACCCACAGTGCAACCT	0.502													20	69					0	0	0	0	T	70418879	C	T	70418879	4	4	470	1	0	0	0	0	0	1	0	0	14889	479	17	4	130	4	SMOC1	14	70418879	Nonsense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	14601558	70418879	36930661	76	91081											
GSPT1	2935	broad.mit.edu	37	chr16	12009530	12009531	+	In_Frame_Ins	INS	-	-	CCG																															tgctgctgccgctgctgctcINSccgccgccgccgccgccgcc																								rs71408216		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr16:12009530_12009531insCCG	ENST00000434724.2	-	1	246_247	c.47_48insCGG	c.(46-48)gag>gCGGag	p.15_16insA	GSPT1_ENST00000439887.2_In_Frame_Ins_p.15_16insA|AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000420576.2_Intron	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	42					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772													4	2	---	---	---	---					CCG	12009531	-	CCG	12009530	7	5	470	1	0	1	1	0	0	0	0	0	6876	842	30	0	1925	0	GSPT1	16	12009530	In_Frame_Ins	INS	-	TCGA-P3-A6T8-01A-11D-A34J-08		12009530	78345223	77	91082											
FANCA	2175	broad.mit.edu	37	chr16	89880932	89880932	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagctataacttacctatAaatgaactagaatgattagc	17	12	6	6	0	0	4	0	3	0	1	0	4	0	4	1	0	5	1	1	0	11	7			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr16:89880932A>T	ENST00000389301.3	-	3	309	c.279T>A	c.(277-279)ttT>ttA	p.F93L	FANCA_ENST00000568369.1_Missense_Mutation_p.F93L|FANCA_ENST00000543736.1_Missense_Mutation_p.F93L|FANCA_ENST00000534992.1_Missense_Mutation_p.F93L|FANCA_ENST00000389302.3_Missense_Mutation_p.F93L|FANCA_ENST00000563673.1_Missense_Mutation_p.F93L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	93					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACTTACCTATAAATGAACTAG	0.323			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	48					0	0	0	0	T	89880932	A	T	89880932	3	4	470	1	0	0	0	0	1	0	0	0	5707	359	13	5	4257	5	FANCA	16	89880932	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	77871402	89880932	473821	78	91083											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			5	13					0	0	0	0	C	7578190	T	C	7578190	3	2	470	1	0	0	0	0	1	0	0	0	16476	1406	49	5	635	5	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08		7578190	73617020	79	91084											
DSEL	92126	broad.mit.edu	37	chr18	65180503	65180503	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatggctgaaaatgaactAtgtcatacacagctcgtccc	14	10	7	10	1	1	2	1	2	0	0	3	2	2	2	1	1	3	2	1	1	7	3			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr18:65180503A>T	ENST00000310045.7	-	2	2846	c.1373T>A	c.(1372-1374)aTa>aAa	p.I458K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	448						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAATGAACTATGTCATACAC	0.468													23	38					0	0	0	0	T	65180503	A	T	65180503	3	4	470	1	0	0	0	0	1	0	0	0	4811	449	16	5	2299	5	DSEL	18	65180503	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08		65180503	12896745	80	91085											
ZNF254	9534	broad.mit.edu	37	chr19	24310424	24310424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacataagataattcataCtgaagagaaaccctacaaat	21	9	4	7	0	1	3	1	1	0	2	1	4	1	3	1	0	4	0	1	0	9	6			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:24310424C>T	ENST00000357002.4	+	4	1737	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I	ZNF254_ENST00000342944.6_Missense_Mutation_p.T456I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	541					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAATTCATACTGAAGAGAAA	0.358													13	55					0	0	0	0	T	24310424	C	T	24310424	3	4	470	1	0	0	0	0	1	0	0	0	17893	565	20	4	1636	4	ZNF254	19	24310424	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08		24310424	34818559	81	91086											
ZNF536	9745	broad.mit.edu	37	chr19	31039416	31039416	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacccagtggcaagtccTcccagaggaagtccgagaaa	15	4	11	11	1	0	3	0	0	0	3	3	5	3	4	4	2	1	1	4	2	4	0			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:31039416T>A	ENST00000355537.3	+	4	3037	c.2890T>A	c.(2890-2892)Tcc>Acc	p.S964T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	964					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGCAAGTCCTCCCAGAGGAA	0.582													38	168					0	0	0	0	A	31039416	T	A	31039416	3	1	470	1	0	0	0	0	1	0	0	0	18069	1551	54	5	2900	5	ZNF536	19	31039416	Missense_Mutation	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08	6728992	31039416	28089567	82	91087											
ZNF599	148103	broad.mit.edu	37	chr19	35251188	35251188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagagcatcttgtggaGtgactcgttcctgtaaaacc	10	11	11	9	1	1	2	0	1	1	1	3	4	2	3	2	2	2	3	2	2	2	3			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:35251188G>A	ENST00000329285.7	-	4	891	c.518C>T	c.(517-519)aCt>aTt	p.T173I		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	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)			ATCTTGTGGAGTGACTCGTTC	0.458													26	90					0	0	0	0	A	35251188	G	A	35251188	3	1	470	1	0	0	0	0	1	0	0	0	18124	1029	36	4	1252	4	ZNF599	19	35251188	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	4211772	35251188	23877795	83	91088											
HNRNPL	3191	broad.mit.edu	37	chr19	39340343	39340344	+	In_Frame_Ins	INS	-	-	CCG																															agggccctggcctcaccccaINSccgccgccgccgcccgccgc																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:39340343_39340344insCCG	ENST00000221419.5	-	1	629_630	c.263_264insCGG	c.(262-264)ggg>gCGGgg	p.87_88insA	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	87	Gly-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCCTCACCccaccgccgccgcc	0.718													3	5	---	---	---	---					CCG	39340344	-	CCG	39340343	7	5	470	1	0	1	1	0	0	0	0	0	7320	146	6	0	1557	0	HNRNPL	19	39340343	In_Frame_Ins	INS	-	TCGA-P3-A6T8-01A-11D-A34J-08	4089155	39340343	19788640	84	91089											
MEIS3	56917	broad.mit.edu	37	chr19	47920458	47920458	+	Silent	SNP	C	C	T																															tagatctcatccttctccctCttcaggccgtcgctgtccaa																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:47920458C>T	ENST00000331559.5	-	2	603	c.162G>A	c.(160-162)aaG>aaA	p.K54K	MEIS3_ENST00000559524.1_Silent_p.K54K|MEIS3_ENST00000561293.1_Silent_p.K54K|MEIS3_ENST00000441740.2_Silent_p.K54K|MEIS3_ENST00000558555.1_Silent_p.K54K|MEIS3_ENST00000561096.1_Silent_p.K142K	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCTTCTCCCTCTTCAGGCCGT	0.632													4	73					0	0	0	0	T	47920458	C	T	47920458	2	4	470	1	0	0	0	0	0	0	0	1	9538	912	32	2		2	MEIS3	19	47920458	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	8580115	47920458	11208525	85	91090	1117	2									
MEIS3	56917	broad.mit.edu	37	chr19	47920461	47920461	+	Silent	SNP	C	C	T																															atctcatccttctccctcttCaggccgtcgctgtccaagcc																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:47920461C>T	ENST00000331559.5	-	2	600	c.159G>A	c.(157-159)ctG>ctA	p.L53L	MEIS3_ENST00000559524.1_Silent_p.L53L|MEIS3_ENST00000561293.1_Silent_p.L53L|MEIS3_ENST00000441740.2_Silent_p.L53L|MEIS3_ENST00000558555.1_Silent_p.L53L|MEIS3_ENST00000561096.1_Silent_p.L141L	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	53						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TCTCCCTCTTCAGGCCGTCGC	0.637													4	76					0	0	0	0	T	47920461	C	T	47920461	2	4	470	1	0	0	0	0	0	0	0	1	9538	813	29	2		2	MEIS3	19	47920461	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	3	47920461	11208522	86	91091	1117	2									
ZNF836	162962	broad.mit.edu	37	chr19	52659617	52659617	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacatcacatgtatatggtTtctctcctgtatggattatc	10	17	6	8	0	2	0	1	0	1	0	5	1	3	1	1	2	1	3	1	2	5	6			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:52659617T>A	ENST00000322146.8	-	5	1840	c.1319A>T	c.(1318-1320)aAa>aTa	p.K440I	ZNF836_ENST00000597252.1_Missense_Mutation_p.K440I|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTATATGGTTTCTCTCCTGT	0.418													48	132					0	0	0	0	A	52659617	T	A	52659617	3	1	470	1	0	0	0	0	1	0	0	0	18280	1841	64	5	1493	5	ZNF836	19	52659617	Missense_Mutation	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08	4739156	52659617	6469366	87	91092											
NLRP8	126205	broad.mit.edu	37	chr19	56466164	56466164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctacttccattgccaagAggtgaaccagacgacagacc	12	9	8	12	1	1	4	0	1	1	3	2	5	2	4	4	1	3	0	4	1	3	4			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:56466164A>G	ENST00000291971.3	+	3	811	c.740A>G	c.(739-741)gAg>gGg	p.E247G	NLRP8_ENST00000590542.1_Missense_Mutation_p.E247G	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	247	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CATTGCCAAGAGGTGAACCAG	0.498													24	111					0	0	0	0	G	56466164	A	G	56466164	3	3	470	1	0	0	0	0	1	0	0	0	10553	304	11	5	750	5	NLRP8	19	56466164	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08	3806547	56466164	2662819	88	91093											
EIF2S2	8894	broad.mit.edu	37	chr20	32686339	32686339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttcatcctcatctgggAacttaacattcttctttttc	8	19	4	10	0	5	0	2	0	3	0	7	1	6	1	1	1	2	1	1	1	3	7			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:32686339A>G	ENST00000374980.2	-	4	619	c.398T>C	c.(397-399)tTc>tCc	p.F133S		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	133						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CTCATCTGGGAACTTAACATT	0.398													13	52					0	0	0	0	G	32686339	A	G	32686339	3	3	470	1	0	0	0	0	1	0	0	0	5046	246	9	5	627	5	EIF2S2	20	32686339	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08		32686339	30339181	89	91094											
IFT52	51098	broad.mit.edu	37	chr20	42264608	42264608	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatgaaccactccagctCatccagcctcagtttgagac	13	8	6	14	0	2	2	2	2	0	1	4	3	4	2	4	0	4	2	4	0	2	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:42264608C>A	ENST00000373030.3	+	11	1096	c.966C>A	c.(964-966)ctC>ctA	p.L322L	IFT52_ENST00000373039.4_Silent_p.L322L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	322						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACTCCAGCTCATCCAGCCTC	0.517													14	36					2.23348e-06	2.2944e-06	1	0	A	42264608	C	A	42264608	2	1	470	1	0	0	0	0	0	0	0	1	7614	813	29	2		2	IFT52	20	42264608	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	9578269	42264608	20760912	90	91095											
CSE1L	1434	broad.mit.edu	37	chr20	47682985	47682985	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaatggtgaatcgcttTcagagtggagatttccatgt	12	12	11	6	1	1	4	1	1	0	3	3	5	2	4	1	2	0	1	1	2	2	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:47682985T>C	ENST00000262982.2	+	5	537	c.414T>C	c.(412-414)ttT>ttC	p.F138F	CSE1L_ENST00000396192.3_Silent_p.F138F|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	138					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGAATCGCTTTCAGAGTGGAG	0.358													11	83					0	0	0	0	C	47682985	T	C	47682985	2	2	470	1	0	0	0	0	0	0	0	1	3962	1780	62	5		5	CSE1L	20	47682985	Silent	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08	5418377	47682985	15342535	91	91096											
PCNT	5116	broad.mit.edu	37	chr21	47836038	47836038	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtcgatctcgtagctcAggtgaaacagcttcaggaaa	13	8	12	8	2	3	1	2	1	1	0	5	4	3	2	0	3	3	3	0	3	4	2			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr21:47836038A>C	ENST00000359568.5	+	30	6313	c.6206A>C	c.(6205-6207)cAg>cCg	p.Q2069P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2069					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTCGTAGCTCAGGTGAAACAG	0.502													4	34					0	0	0	0	C	47836038	A	C	47836038	3	2	470	1	0	0	0	0	1	0	0	0	11661	188	7	5	6324	5	PCNT	21	47836038	Missense_Mutation	SNP	A	TCGA-P3-A6T8-01A-11D-A34J-08		47836038	293857	92	91097											
RLIM	51132	broad.mit.edu	37	chrX	73811445	73811445	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaatgcaaacactacaggTttttaatgcatcattttcac	13	15	5	8	0	2	0	2	0	0	0	2	0	2	0	0	1	4	4	0	1	4	7			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:73811445T>G	ENST00000332687.6	-	4	1923	c.1705A>C	c.(1705-1707)Acc>Ccc	p.T569P	RLIM_ENST00000349225.2_Missense_Mutation_p.T569P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	569					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACTACAGGTTTTTAATGCA	0.403													16	24					0	0	0	0	G	73811445	T	G	73811445	3	3	470	1	0	0	0	0	1	0	0	0	13475	1725	60	5	173	5	RLIM	23	73811445	Missense_Mutation	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08		73811445	81459115	93	91098											
H2BFWT	158983	broad.mit.edu	37	chrX	103267793	103267793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagcttgcccatctgccccGgcagcagcaggcgcacagcc	7	4	12	18	3	1	0	0	0	1	0	1	1	1	0	4	2	6	5	4	2	0	1			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:103267793G>A	ENST00000217926.5	-	1	466	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	147					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CATCTGCCCCGGCAGCAGCAG	0.687													14	54					0	0	0	0	A	103267793	G	A	103267793	3	1	470	1	0	0	0	0	1	0	0	0	6982	1116	39	1	95	1	H2BFWT	23	103267793	Missense_Mutation	SNP	G	TCGA-P3-A6T8-01A-11D-A34J-08	29456348	103267793	52002767	94	91099											
CXorf57	55086	broad.mit.edu	37	chrX	105875859	105875859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatttatttttcagaaatCtgcctgaatcttcgagatcc	11	17	5	8	1	3	3	1	1	2	2	5	4	4	3	2	0	1	0	2	0	5	7			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:105875859C>T	ENST00000372548.4	+	4	1093	c.984C>T	c.(982-984)atC>atT	p.I328I	CXorf57_ENST00000372544.2_Silent_p.I328I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	328										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAGAAATCTGCCTGAATC	0.299													13	18					0	0	0	0	T	105875859	C	T	105875859	2	4	470	1	0	0	0	0	0	0	0	1	4145	903	32	2		2	CXorf57	23	105875859	Silent	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	2608066	105875859	49394701	95	91100											
ACTRT1	139741	broad.mit.edu	37	chrX	127186185	127186185	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcatgtggattaaacaTgtctgtaatatgttctcctg	11	16	8	6	0	2	0	0	0	2	0	3	1	2	1	1	1	2	3	1	1	5	5			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:127186185T>A	ENST00000371124.3	-	1	197	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	1						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGATTAAACATGTCTGTAATA	0.428													21	23					0	0	0	0	A	127186185	T	A	127186185	1	1	470	1	0	0	0	0	0	0	0	0	218	1464	51	5		5	ACTRT1	23	127186185	Translation_Start_Site	SNP	T	TCGA-P3-A6T8-01A-11D-A34J-08	21310326	127186185	28084375	96	91101											
MCF2	4168	broad.mit.edu	37	chrX	138687061	138687061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catatatttctgccatgtttCcaaagagaatgtccttttta	11	17	5	8	0	1	1	0	0	1	1	3	2	3	1	3	0	1	1	3	0	5	7			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:138687061C>T	ENST00000520602.1	-	17	2105	c.1820G>A	c.(1819-1821)gGa>gAa	p.G607E	MCF2_ENST00000414978.1_Missense_Mutation_p.G607E|MCF2_ENST00000519895.1_Missense_Mutation_p.G623E|MCF2_ENST00000370573.4_Missense_Mutation_p.G547E|MCF2_ENST00000370576.4_Missense_Mutation_p.G547E|MCF2_ENST00000338585.6_Missense_Mutation_p.G563E|MCF2_ENST00000536274.1_Missense_Mutation_p.G508E|MCF2_ENST00000370578.4_Missense_Mutation_p.G692E			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	547	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGCCATGTTTCCAAAGAGAAT	0.318													45	53					0	0	0	0	T	138687061	C	T	138687061	3	4	470	1	0	0	0	0	1	0	0	0	9447	855	30	2	1213	2	MCF2	23	138687061	Missense_Mutation	SNP	C	TCGA-P3-A6T8-01A-11D-A34J-08	11500876	138687061	16583499	97	91102											
F8	2157	broad.mit.edu	37	chrX	154158428	154158428	+	Frame_Shift_Del	DEL	T	T	-																															cttttctatttcttcctgaaTttttttttcttgattgtgtg																										TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:154158428delT	ENST00000360256.4	-	14	3837	c.3637delA	c.(3637-3639)ttfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTGAATTTTTTTTTCT	0.328													14	20	---	---	---	---					-	154158428	T	-	154158428	7	5	470	1	0	1	0	1	0	0	0	0	5388	1493	52	0	3498	0	F8	23	154158428	Frame_Shift_Del	DEL	T	TCGA-P3-A6T8-01A-11D-A34J-08	15471367	154158428	1112132	98	91103											
MACF1	23499	broad.mit.edu	37	chr1	39838217	39838217	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaattgcaaaggtacttctTtagaaaatctcatcatggaa	15	13	6	7	0	4	1	3	0	2	1	5	2	4	2	0	2	2	2	0	2	7	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:39838217T>C	ENST00000564288.1	+	52	13939	c.13162T>C	c.(13162-13164)Tta>Cta	p.L4388L	MACF1_ENST00000372915.3_Silent_p.L4393L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Silent_p.L2326L|MACF1_ENST00000317713.7_Silent_p.L2326L|MACF1_ENST00000567887.1_Silent_p.L4425L|MACF1_ENST00000361689.2_Silent_p.L2326L|MACF1_ENST00000539005.1_Silent_p.L2326L|MACF1_ENST00000289893.4_Silent_p.L2828L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4393				C -> Y (in Ref. 1; BAA83821).	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGTACTTCTTTAGAAAATCT	0.383													15	41					0	0	0	0	C	39838217	T	C	39838217	2	2	471	1	0	0	0	0	0	0	0	1	9209	1838	64	5		5	MACF1	1	39838217	Silent	SNP	T	TCGA-QK-A64Z-01A-11D-A30E-08		39838217	209412404	1	91104											
KCNQ4	9132	broad.mit.edu	37	chr1	41303411	41303411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacaaggggccctccgacgCggaggtggtggatgaaatca	10	5	16	10	4	1	1	1	1	0	0	2	5	2	3	2	6	0	0	2	6	2	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:41303411C>T	ENST00000347132.5	+	13	1902	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	607	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.A607V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCCTCCGACGCGGAGGTGGTG	0.627													8	18					0	0	0	0	T	41303411	C	T	41303411	3	4	471	1	0	0	0	0	1	0	0	0	8138	768	27	1	1870	1	KCNQ4	1	41303411	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	1465194	41303411	207947210	2	91105											
CCDC24	149473	broad.mit.edu	37	chr1	44457953	44457953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagctcccgccccatctctGacccctcttctcttctggca	4	11	5	21	1	4	1	0	1	4	0	7	1	5	1	6	1	1	2	6	1	0	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:44457953G>C	ENST00000372318.3	+	3	367	c.196G>C	c.(196-198)Gac>Cac	p.D66H	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	66										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCCATCTCTGACCCCTCTTC	0.617													18	135					0	0	0	0	C	44457953	G	C	44457953	3	2	471	1	0	0	0	0	1	0	0	0	2825	1290	45	2	202	2	CCDC24	1	44457953	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	3154542	44457953	204792668	3	91106											
TOE1	114034	broad.mit.edu	37	chr1	45806993	45806993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagctgagtgggcttgggGacaggaagagtttgctgaac	10	8	18	5	0	0	3	0	2	0	1	0	6	0	6	0	5	3	4	0	5	2	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:45806993G>A	ENST00000372090.5	+	3	797	c.214G>A	c.(214-216)Gac>Aac	p.D72N	TOE1_ENST00000539779.1_Missense_Mutation_p.G24E|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	72						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGGCTTGGGGACAGGAAGAG	0.552													17	66					0	0	0	0	A	45806993	G	A	45806993	3	1	471	1	0	0	0	0	1	0	0	0	16443	1174	41	2	224	2	TOE1	1	45806993	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	1349040	45806993	203443628	4	91107											
SV2A	9900	broad.mit.edu	37	chr1	149882448	149882448	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcatccaaaacatgcagagCcagctcaaatgctcccctcg	13	7	6	15	1	2	1	2	0	0	1	5	1	4	1	4	0	5	3	4	0	3	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:149882448C>T	ENST00000369146.3	-	4	1375	c.885G>A	c.(883-885)tgG>tgA	p.W295*	SV2A_ENST00000369145.1_Nonsense_Mutation_p.W295*	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	295					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACATGCAGAGCCAGCTCAAAT	0.547													13	49					0	0	0	0	T	149882448	C	T	149882448	4	4	471	1	0	0	0	0	0	1	0	0	15507	740	26	4	1383	4	SV2A	1	149882448	Nonsense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	104075455	149882448	99368173	5	91108											
FLG2	388698	broad.mit.edu	37	chr1	152324225	152324225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctctgtgtggactgtcCatgaccagagtggccatgtc	6	11	11	13	0	1	2	0	1	1	1	4	3	2	3	4	2	0	0	4	2	0	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:152324225C>T	ENST00000388718.5	-	3	6109	c.6037G>A	c.(6037-6039)Gga>Aga	p.G2013R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2013							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGACTGTCCATGACCAGAG	0.522													111	353					0	0	0	0	T	152324225	C	T	152324225	3	4	471	1	0	0	0	0	1	0	0	0	5968	603	21	4	1142	4	FLG2	1	152324225	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	2441777	152324225	96926396	6	91109											
THBS3	7059	broad.mit.edu	37	chr1	155167915	155167915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgataggcccgaaaatccGtaagcgttacctctgcactt	10	11	8	12	3	2	1	0	1	2	0	3	2	3	1	3	1	3	3	3	1	5	4	rs149484793	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:155167915G>T	ENST00000368378.3	-	18	2191	c.2171C>A	c.(2170-2172)aCg>aAg	p.T724K	THBS3_ENST00000541990.1_Missense_Mutation_p.T253K|THBS3_ENST00000541576.1_Missense_Mutation_p.T121K|THBS3_ENST00000457183.2_Missense_Mutation_p.T604K|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	724					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.T724M(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGAAAATCCGTAAGCGTTAC	0.547													20	74					5.03518e-11	5.32647e-11	1	0	T	155167915	G	T	155167915	3	4	471	1	0	0	0	0	1	0	0	0	15949	1145	40	3	723	3	THBS3	1	155167915	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	2843690	155167915	94082706	7	91110											
RUSC1	23623	broad.mit.edu	37	chr1	155300201	155300201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctcccctcagggcagtgCgggctctctgtgatcacact	5	10	12	14	1	3	1	2	1	1	0	5	1	4	1	2	3	1	3	2	3	0	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:155300201C>T	ENST00000368352.5	+	10	2699	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	RUSC1_ENST00000368349.4_Missense_Mutation_p.R381W|RUSC1_ENST00000368347.4_Missense_Mutation_p.R440W|RUSC1_ENST00000368354.3_Missense_Mutation_p.R744W|RUSC1_ENST00000292254.4_Missense_Mutation_p.R381W|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	850	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGGGCAGTGCGGGCTCTCTG	0.617													4	58					0	0	0	0	T	155300201	C	T	155300201	3	4	471	1	0	0	0	0	1	0	0	0	13835	759	27	1	2713	1	RUSC1	1	155300201	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	132286	155300201	93950420	8	91111											
LHX9	56956	broad.mit.edu	37	chr1	197889125	197889125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcccccgctcagcccggaGaagcccgccctgtgcgccgg	5	4	13	19	5	1	1	1	0	0	1	1	2	1	1	6	2	4	1	6	2	1	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:197889125G>A	ENST00000367390.3	+	3	198	c.171G>A	c.(169-171)gaG>gaA	p.E57E	LHX9_ENST00000561173.1_Silent_p.E72E|LHX9_ENST00000367391.1_Silent_p.E57E|LHX9_ENST00000367387.4_Silent_p.E66E|LHX9_ENST00000337020.2_Silent_p.E66E	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	66					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TCAGCCCGGAGAAGCCCGCCC	0.657													48	174					0	0	0	0	A	197889125	G	A	197889125	2	1	471	1	0	0	0	0	0	0	0	1	8831	933	33	2		2	LHX9	1	197889125	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	42588924	197889125	51361496	9	91112											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646048	228646048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaatgacatcttcgagcGcatcgccagcgaggcctccc	8	7	10	16	5	2	1	1	1	1	0	5	3	3	1	3	1	2	1	3	1	1	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:228646048G>A	ENST00000369160.2	+	1	241	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R73L(1)		skin(1)	1		Prostate(94;0.183)				ATCTTCGAGCGCATCGCCAGC	0.622													4	135					0	0	0	0	A	228646048	G	A	228646048	3	1	471	1	0	0	0	0	1	0	0	0	7233	1087	38	1	220	1	HIST3H2BB	1	228646048	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	30756923	228646048	20604573	10	91113											
OR11L1	391189	broad.mit.edu	37	chr1	248004707	248004707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccacagaagtccaacctGgaaatcatcagggaaggcag	14	4	11	12	1	2	1	2	0	0	1	3	3	3	3	3	3	1	1	3	3	4	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:248004707G>A	ENST00000355784.2	-	1	547	c.492C>T	c.(490-492)tcC>tcT	p.S164S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTCCAACCTGGAAATCATCA	0.552													29	122					0	0	0	0	A	248004707	G	A	248004707	2	1	471	1	0	0	0	0	0	0	0	1	11001	1335	47	4		4	OR11L1	1	248004707	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	19358659	248004707	1245914	11	91114											
SCN3A	6328	broad.mit.edu	37	chr2	166019313	166019313	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttctttaccgactggatCagggcccccacaatggtctt	8	11	9	13	1	3	0	1	0	2	0	3	2	3	1	3	3	2	1	3	3	2	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:166019313C>G	ENST00000360093.3	-	8	1211	c.720G>C	c.(718-720)ctG>ctC	p.L240L	SCN3A_ENST00000283254.7_Silent_p.L240L|SCN3A_ENST00000409101.3_Silent_p.L240L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	240						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCGACTGGATCAGGGCCCCCA	0.458													30	93					0	0	0	0	G	166019313	C	G	166019313	2	3	471	1	0	0	0	0	0	0	0	1	14005	813	29	2		2	SCN3A	2	166019313	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		166019313	77180060	12	91115											
LRP2	4036	broad.mit.edu	37	chr2	170063464	170063464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaatccttgcaattatatCtaaagaatcatcaacccaat	17	11	3	10	1	3	1	2	0	1	1	4	2	4	1	2	0	2	1	2	0	9	4	rs143262722		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:170063464C>T	ENST00000263816.3	-	39	7051	c.6766G>A	c.(6766-6768)Gat>Aat	p.D2256N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2256					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAATTATATCTAAAGAATCA	0.438													29	123					0	0	0	0	T	170063464	C	T	170063464	3	4	471	1	0	0	0	0	1	0	0	0	9020	913	32	2	7365	2	LRP2	2	170063464	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	4044151	170063464	73135909	13	91116											
HOXD12	3238	broad.mit.edu	37	chr2	176964708	176964708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgcccgcctcctgcgcccCcgcgcagcctgcgggcgcca	3	3	12	23	7	0	0	0	0	0	0	1	0	1	0	7	1	3	1	7	1	0	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:176964708C>T	ENST00000406506.2	+	1	251	c.179C>T	c.(178-180)cCc>cTc	p.P60L	HOXD12_ENST00000404162.2_Missense_Mutation_p.P60L			P35452	HXD12_HUMAN	homeobox D12	60						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		TCCTGCGCCCCCGCGCAGCCT	0.746													10	42					0	0	0	0	T	176964708	C	T	176964708	3	4	471	1	0	0	0	0	1	0	0	0	7371	623	22	4	181	4	HOXD12	2	176964708	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	6901244	176964708	66234665	14	91117											
TTN	7273	broad.mit.edu	37	chr2	179476184	179476184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctctcactctcaggacAtattctttgtcaggaacaac	11	12	6	12	0	4	0	3	0	3	0	6	2	4	2	0	2	3	1	0	2	3	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:179476184A>G	ENST00000589042.1	-	269	50996	c.50772T>C	c.(50770-50772)taT>taC	p.Y16924Y	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.Y8051Y|TTN_ENST00000591111.1_Silent_p.Y15283Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Y7859Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.Y7984Y|TTN_ENST00000342992.6_Silent_p.Y14356Y|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15283	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCAGGACATATTCTTTGT	0.438													17	49					0	0	0	0	G	179476184	A	G	179476184	2	3	471	1	0	0	0	0	0	0	0	1	16831	224	8	5		5	TTN	2	179476184	Silent	SNP	A	TCGA-QK-A64Z-01A-11D-A30E-08	2511476	179476184	63723189	15	91118											
CASP8	841	broad.mit.edu	37	chr2	202136277	202136277	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagaagtgagcagatCagaattgaggtcttttaagt	14	12	11	4	0	3	6	2	2	1	4	3	6	3	6	0	1	1	1	0	1	4	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:202136277C>A	ENST00000358485.4	+	3	717	c.521C>A	c.(520-522)tCa>tAa	p.S174*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.S115*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.S115*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.S115*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.S115*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S115*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.S147*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.S115*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	115	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GTGAGCAGATCAGAATTGAGG	0.373										HNSCC(4;0.00038)			12	65					9.31168e-06	9.53516e-06	1	0	A	202136277	C	A	202136277	4	1	471	1	0	0	0	0	0	1	0	0	2702	838	29	2	631	2	CASP8	2	202136277	Nonsense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	22660093	202136277	41063096	16	91119											
FASTKD2	22868	broad.mit.edu	37	chr2	207634815	207634815	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgtaattatatttcaatagGaacgtatcaatgagtgtgat	14	16	8	3	1	2	2	2	2	0	0	2	3	2	3	0	1	1	2	0	1	8	7			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:207634815G>A	ENST00000236980.6	+	3	1126	c.777_splice	c.e3-1	p.E260_splice	FASTKD2_ENST00000402774.3_Splice_Site_p.E260_splice|FASTKD2_ENST00000403094.3_Splice_Site_p.E260_splice	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	260					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		ATTTCAATAGGAACGTATCAA	0.363													7	48					0	0	0	0	A	207634815	G	A	207634815	5	1	471	1	0	0	0	0	0	0	1	0	5731	1188	41	2	784	2	FASTKD2	2	207634815	Splice_Site	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	5498538	207634815	35564558	17	91120											
MAP2	4133	broad.mit.edu	37	chr2	210594683	210594683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacctggaggtggtaatgtCaaggtaagaaacaaggttat	14	10	13	4	0	1	1	1	0	0	1	1	2	1	2	1	5	2	4	1	5	7	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:210594683C>T	ENST00000360351.4	+	14	5771	c.5265C>T	c.(5263-5265)gtC>gtT	p.V1755V	MAP2_ENST00000361559.4_Silent_p.V399V|MAP2_ENST00000199940.6_Silent_p.V487V|MAP2_ENST00000392194.1_Silent_p.V399V|MAP2_ENST00000447185.1_Silent_p.V1751V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1755					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GTGGTAATGTCAAGGTAAGAA	0.358													11	59					0	0	0	0	T	210594683	C	T	210594683	2	4	471	1	0	0	0	0	0	0	0	1	9304	813	29	2		2	MAP2	2	210594683	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	2959868	210594683	32604690	18	91121											
UGT1A1	54658	broad.mit.edu	37	chr2	234669575	234669575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgggtgaagaacatgctCattgccttttcacagaactt	11	11	9	10	1	2	3	2	1	0	2	2	3	2	3	1	1	5	1	1	1	3	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:234669575C>T	ENST00000360418.3	+	1	642	c.642C>T	c.(640-642)ctC>ctT	p.L214L	UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000305208.5_Silent_p.L214L|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN		214					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGAACATGCTCATTGCCTTTT	0.522													31	163					0	0	0	0	T	234669575	C	T	234669575	2	4	471	1	0	0	0	0	0	0	0	1	17040	813	29	2		2	UGT1A1	2	234669575	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	24074892	234669575	8529798	19	91122											
PER2	8864	broad.mit.edu	37	chr2	239162045	239162045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcactgtgaagctggcGtggggaggtgccgggggtgc	5	6	22	8	2	0	1	0	1	0	0	0	2	0	2	1	7	3	3	1	7	1	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:239162045G>A	ENST00000254657.3	-	19	2898	c.2619C>T	c.(2617-2619)caC>caT	p.H873H	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	873	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGAAGCTGGCGTGGGGAGGTG	0.662													15	50					0	0	0	0	A	239162045	G	A	239162045	2	1	471	1	0	0	0	0	0	0	0	1	11801	1136	40	1		1	PER2	2	239162045	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	4492470	239162045	4037328	20	91123											
HDAC4	9759	broad.mit.edu	37	chr2	239976475	239976475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgactttctccatggaacGgacagcgtttgcattgggtc	8	12	11	10	2	1	1	0	1	1	0	3	3	1	3	1	3	3	2	1	3	1	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:239976475G>A	ENST00000345617.3	-	25	3834	c.3043C>T	c.(3043-3045)Cgt>Tgt	p.R1015C	HDAC4_ENST00000543185.1_Missense_Mutation_p.R599C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1015	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCCATGGAACGGACAGCGTTT	0.507													26	102					0	0	0	0	A	239976475	G	A	239976475	3	1	471	1	0	0	0	0	1	0	0	0	7059	1116	39	1	223	1	HDAC4	2	239976475	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	814430	239976475	3222898	21	91124											
NCKIPSD	51517	broad.mit.edu	37	chr3	48701566	48701566	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctggcccgccccgaacggtCcctatgacatcaccatcaac	9	7	7	18	3	3	1	2	1	1	0	4	2	4	1	5	2	2	0	5	2	3	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:48701566C>G	ENST00000341520.4	-	13	2060	c.1965_splice	c.e13-1	p.G656_splice	RP11-148G20.1_ENST00000421275.1_RNA			Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	0					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGAACGGTCCCTATGACAT	0.657											OREG0015562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0	0	G	48701566	C	G	48701566	5	3	471	1	0	0	0	0	0	0	1	0	10295	870	30	2		2	NCKIPSD	3	48701566	Splice_Site	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		48701566	149320864	22	91125											
KALRN	8997	broad.mit.edu	37	chr3	124380773	124380773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggacgtctgcagggctttGaggtgagtctttaagaatgc	9	12	14	6	1	2	3	0	2	2	1	2	4	2	4	0	3	2	2	0	3	3	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:124380773G>C	ENST00000360013.3	+	45	6467	c.6340G>C	c.(6340-6342)Gag>Cag	p.E2114Q	KALRN_ENST00000291478.4_Missense_Mutation_p.E417Q|KALRN_ENST00000428018.2_Missense_Mutation_p.E385Q|KALRN_ENST00000459915.1_Missense_Mutation_p.E206Q|KALRN_ENST00000393496.1_Missense_Mutation_p.E455Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2113					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGGGCTTTGAGGTGAGTCT	0.502													22	103					0	0	0	0	C	124380773	G	C	124380773	3	2	471	1	0	0	0	0	1	0	0	0	8028	1291	45	2	6674	2	KALRN	3	124380773	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	75679207	124380773	73641657	23	91126											
SLITRK3	22865	broad.mit.edu	37	chr3	164908602	164908602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgtgaagcatctcaGctatggaaggtttcatcgtt	8	15	9	9	1	3	1	2	1	2	0	6	2	4	2	1	2	2	4	1	2	3	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:164908602G>C	ENST00000475390.1	-	2	460	c.17C>G	c.(16-18)gCt>gGt	p.A6G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A6G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	6						integral to membrane		p.A6V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGCATCTCAGCTATGGAAGG	0.383										HNSCC(40;0.11)			9	69					0	0	0	0	C	164908602	G	C	164908602	3	2	471	1	0	0	0	0	1	0	0	0	14832	971	34	4	2920	4	SLITRK3	3	164908602	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	40527829	164908602	33113828	24	91127											
HTT	3064	broad.mit.edu	37	chr4	3105592	3105592	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaggttacagctcgagctCtataaggaaattaaaaaggt	16	9	9	7	1	1	0	0	0	1	0	2	2	1	1	1	3	3	3	1	3	8	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:3105592C>G	ENST00000355072.5	+	4	655	c.510C>G	c.(508-510)ctC>ctG	p.L170L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	170					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCTCGAGCTCTATAAGGAAA	0.323													17	94					0	0	0	0	G	3105592	C	G	3105592	2	3	471	1	0	0	0	0	0	0	0	1	7510	900	32	2		2	HTT	4	3105592	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		3105592	188048684	25	91128											
ADRA2C	152	broad.mit.edu	37	chr4	3768924	3768924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgccagcccgacggcgcCgcctacccgcagtgcggcct	5	4	12	20	7	0	0	0	0	0	0	0	1	0	0	7	2	4	1	7	2	2	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:3768924C>T	ENST00000330055.5	+	1	800	c.591C>T	c.(589-591)gcC>gcT	p.A197A	ADRA2C_ENST00000509482.1_Silent_p.A197A	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	197					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCGACGGCGCCGCCTACCCGC	0.677													3	21					0	0	0	0	T	3768924	C	T	3768924	2	4	471	1	0	0	0	0	0	0	0	1	339	639	23	1		1	ADRA2C	4	3768924	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	663332	3768924	187385352	26	91129											
MANBA	4126	broad.mit.edu	37	chr4	103647819	103647819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccatctgtagttaaggtCattaaatctgtagtaagaat	14	13	8	6	0	3	1	1	0	2	1	3	2	3	1	1	1	0	4	1	1	7	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:103647819C>A	ENST00000226578.4	-	2	298	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	MANBA_ENST00000505239.1_Missense_Mutation_p.D67Y	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	67					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAGTTAAGGTCATTAAATCTG	0.279													11	59					5.50884e-06	5.68654e-06	1	0	A	103647819	C	A	103647819	3	1	471	1	0	0	0	0	1	0	0	0	9288	826	29	2	2504	2	MANBA	4	103647819	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	99878895	103647819	87506457	27	91130											
HMGB2	3148	broad.mit.edu	37	chr4	174254706	174254706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaattgacggaagagtccGggtgtttcttcttgtgctct	7	14	12	8	3	3	2	0	1	3	1	4	4	4	3	1	2	1	2	1	2	2	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:174254706G>C	ENST00000296503.5	-	2	968	c.95C>G	c.(94-96)cCg>cGg	p.P32R	HMGB2_ENST00000438704.2_Missense_Mutation_p.P32R|HMGB2_ENST00000446922.2_Missense_Mutation_p.P32R			P26583	HMGB2_HUMAN	high mobility group box 2	32					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGAAGAGTCCGGGTGTTTCTT	0.562													18	68					0	0	0	0	C	174254706	G	C	174254706	3	2	471	1	0	0	0	0	1	0	0	0	7276	1116	39	3	550	3	HMGB2	4	174254706	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	70606887	174254706	16899570	28	91131											
FAT1	2195	broad.mit.edu	37	chr4	187530345	187530345	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttcacttaccgtttctcGgtcgagaagtttggtcactt	6	18	8	9	3	3	1	2	0	1	1	5	2	3	1	1	2	1	2	1	2	2	6			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:187530345G>A	ENST00000441802.2	-	16	10407	c.10198C>T	c.(10198-10200)Cga>Tga	p.R3400*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3400	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGTTTCTCGGTCGAGAAGT	0.453										HNSCC(5;0.00058)			11	21					0	0	0	0	A	187530345	G	A	187530345	4	1	471	1	0	0	0	0	0	1	0	0	5734	1124	39	1	3616	1	FAT1	4	187530345	Nonsense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	13275639	187530345	3623931	29	91132											
FAT1	2195	broad.mit.edu	37	chr4	187540437	187540437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaatgacaaaatgtttatGatcattgccagacagaatgg	15	11	9	6	0	2	4	2	2	0	2	2	4	2	4	1	1	1	1	1	1	5	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:187540437G>A	ENST00000441802.2	-	10	7512	c.7303C>T	c.(7303-7305)Cat>Tat	p.H2435Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2435	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAATGTTTATGATCATTGCCA	0.468										HNSCC(5;0.00058)			27	65					0	0	0	0	A	187540437	G	A	187540437	3	1	471	1	0	0	0	0	1	0	0	0	5734	1290	45	2	6535	2	FAT1	4	187540437	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	10092	187540437	3613839	30	91133											
BRD9	65980	broad.mit.edu	37	chr5	878569	878569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atactgaattattctgcatcGaaagcgcagtagtggcactg	12	11	10	8	2	1	1	0	1	1	0	2	2	1	1	0	1	3	4	0	1	5	4	rs141776263		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:878569G>A	ENST00000323510.4	-	8	883	c.884C>T	c.(883-885)tCg>tTg	p.S295L	BRD9_ENST00000467963.1_Missense_Mutation_p.S391L|BRD9_ENST00000483173.1_Missense_Mutation_p.S338L|BRD9_ENST00000388890.4_Missense_Mutation_p.S275L|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	391							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ATTCTGCATCGAAAGCGCAGT	0.567													22	181					0	0	0	0	A	878569	G	A	878569	3	1	471	1	0	0	0	0	1	0	0	0	1515	1059	37	1	645	1	BRD9	5	878569	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		878569	180036691	31	91134											
CDC23	8697	broad.mit.edu	37	chr5	137542373	137542373	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccatatcctgggcatcttCctaaaaaagaaacaagctta	16	10	5	10	0	1	1	0	0	1	1	4	1	4	1	3	1	2	2	3	1	7	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:137542373C>T	ENST00000394886.2	-	3	265	c.234_splice	c.e3-1	p.E79_splice	CDC23_ENST00000505120.1_Intron|CDC23_ENST00000394884.3_Splice_Site_p.E79_splice	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGGCATCTTCCTAAAAAAGA	0.388													7	60					0	0	0	0	T	137542373	C	T	137542373	5	4	471	1	0	0	0	0	0	0	1	0	3090	869	30	2	1614	2	CDC23	5	137542373	Splice_Site	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	136663804	137542373	43372887	32	91135											
PCDHA4	56144	broad.mit.edu	37	chr5	140186911	140186911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacggcaccttcgtgggcCgcatcgcgcaggacctggga	8	5	14	14	5	0	0	0	0	0	0	2	2	0	2	3	4	1	3	3	4	1	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:140186911C>T	ENST00000530339.1	+	1	139	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R47C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R47C|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGCATCGCGCA	0.657													22	140					0	0	0	0	T	140186911	C	T	140186911	3	4	471	1	0	0	0	0	1	0	0	0	11597	652	23	1	141	1	PCDHA4	5	140186911	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	2644538	140186911	40728349	33	91136											
TCOF1	6949	broad.mit.edu	37	chr5	149775923	149775923	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgggaacccccaagcctCaaccctggcgctgcaaagca	10	4	11	16	1	1	0	1	0	0	0	1	1	1	1	4	3	5	4	4	3	4	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:149775923C>G	ENST00000451292.1	+	25	4079	c.3971C>G	c.(3970-3972)tCa>tGa	p.S1324*	TCOF1_ENST00000445265.2_Nonsense_Mutation_p.S1211*|TCOF1_ENST00000323668.7_Nonsense_Mutation_p.S1210*|TCOF1_ENST00000504761.2_Nonsense_Mutation_p.S1287*|TCOF1_ENST00000513346.1_Nonsense_Mutation_p.S1287*|TCOF1_ENST00000377797.3_Nonsense_Mutation_p.S1288*|TCOF1_ENST00000439160.2_Nonsense_Mutation_p.S1250*			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1287					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAAGCCTCAACCCTGGCG	0.607													21	94					0	0	0	0	G	149775923	C	G	149775923	4	3	471	1	0	0	0	0	0	1	0	0	15802	838	29	2	3979	2	TCOF1	5	149775923	Nonsense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	9589012	149775923	31139337	34	91137											
ATXN1	6310	broad.mit.edu	37	chr6	16327207	16327207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggctggcagtcccacCgggagtggctctgaagcact	6	7	15	13	2	1	1	0	1	1	0	2	2	2	2	3	4	1	4	3	4	1	0	rs34794258		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:16327207C>T	ENST00000244769.4	-	8	2271	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	ATXN1_ENST00000436367.1_Silent_p.P445P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	445					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCAGTCCCACCGGGAGTGGCT	0.627													5	243					0	0	0	0	T	16327207	C	T	16327207	2	4	471	1	0	0	0	0	0	0	0	1	1213	639	23	1		1	ATXN1	6	16327207	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		16327207	154787860	35	91138											
HIST1H4H	8365	broad.mit.edu	37	chr6	26285504	26285504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttgcgtttggcgtgcTctgtgtaagtgacagcgtca	5	13	14	9	4	3	1	1	1	2	0	3	1	3	1	0	2	3	3	0	2	1	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:26285504T>C	ENST00000289352.1	-	1	258	c.224A>G	c.(223-225)gAg>gGg	p.E75G	HIST1H4H_ENST00000377727.1_Missense_Mutation_p.E75G			P62805	H4_HUMAN	histone cluster 1, H4h	75					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						TTTGGCGTGCTCTGTGTAAGT	0.547										HNSCC(76;0.23)			18	66					0	0	0	0	C	26285504	T	C	26285504	3	2	471	1	0	0	0	0	1	0	0	0	7222	1551	54	5	91	5	HIST1H4H	6	26285504	Missense_Mutation	SNP	T	TCGA-QK-A64Z-01A-11D-A30E-08	9958297	26285504	144829563	36	91139											
LY6G5C	80741	broad.mit.edu	37	chr6	31646965	31646965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaccctaactccttggtctCcaagaggcatcggtagcagc	9	8	10	14	1	1	1	0	0	1	1	4	1	2	1	3	3	3	4	3	3	3	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:31646965C>T	ENST00000375858.3	-	2	201	c.193G>A	c.(193-195)Gag>Aag	p.E65K	LY6G5C_ENST00000383237.4_Missense_Mutation_p.E68K|LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_Missense_Mutation_p.E66K	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	68	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						TCCTTGGTCTCCAAGAGGCAT	0.522													8	225					0	0	0	0	T	31646965	C	T	31646965	3	4	471	1	0	0	0	0	1	0	0	0	9158	864	30	2	258	2	LY6G5C	6	31646965	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	5361461	31646965	139468102	37	91140											
NOTCH4	4855	broad.mit.edu	37	chr6	32169899	32169899	+	Missense_Mutation	SNP	C	C	T																															gtagccatcaaacagacactCttcagagtcacactgtgggt																										TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:32169899C>T	ENST00000375023.3	-	21	3847	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1237					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AACAGACACTCTTCAGAGTCA	0.622													17	103					0	0	0	0	T	32169899	C	T	32169899	3	4	471	1	0	0	0	0	1	0	0	0	10621	922	32	2	2342	2	NOTCH4	6	32169899	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	522934	32169899	138945168	38	91141	1118	2									
NOTCH4	4855	broad.mit.edu	37	chr6	32169900	32169900	+	Silent	SNP	T	T	C																															tagccatcaaacagacactcTtcagagtcacactgtgggtg																										TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:32169900T>C	ENST00000375023.3	-	21	3846	c.3708A>G	c.(3706-3708)gaA>gaG	p.E1236E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1236					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGACACTCTTCAGAGTCAC	0.627													17	104					0	0	0	0	C	32169900	T	C	32169900	2	2	471	1	0	0	0	0	0	0	0	1	10621	1606	56	5		5	NOTCH4	6	32169900	Silent	SNP	T	TCGA-QK-A64Z-01A-11D-A30E-08	1	32169900	138945167	39	91142	1118	2									
FOXK1	221937	broad.mit.edu	37	chr7	4798948	4798948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccctccgtgcaggctcccCcgtcagcgcccagccagtga	5	5	11	20	4	1	1	1	1	0	0	3	1	3	1	6	1	3	2	6	1	0	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:4798948C>T	ENST00000328914.4	+	7	1418	c.1418C>T	c.(1417-1419)cCc>cTc	p.P473L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P310L	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	473					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCAGGCTCCCCCGTCAGCGCC	0.736													6	31					0	0	0	0	T	4798948	C	T	4798948	3	4	471	1	0	0	0	0	1	0	0	0	6061	623	22	4	1444	4	FOXK1	7	4798948	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		4798948	154339715	40	91143											
PDE1C	5137	broad.mit.edu	37	chr7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatttcaattaccaaggttCgaaactcccttttagagaca	13	12	5	11	1	1	1	1	0	0	1	3	3	2	1	3	1	2	1	3	1	5	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:31877577C>T	ENST00000396184.3	-	11	1193	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000396191.1_Missense_Mutation_p.R330Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TACCAAGGTTCGAAACTCCCT	0.388													10	141					0	0	0	0	T	31877577	C	T	31877577	3	4	471	1	0	0	0	0	1	0	0	0	11706	884	31	1	947	1	PDE1C	7	31877577	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	27078629	31877577	127261086	41	91144											
CACNA2D1	781	broad.mit.edu	37	chr7	81593596	81593596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactgactgataatcataaGatttgttaaaagcataaact	18	13	5	5	0	1	3	1	2	0	1	1	3	1	3	0	0	3	2	0	0	7	6			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:81593596G>C	ENST00000356860.3	-	33	2992	c.2654C>G	c.(2653-2655)tCt>tGt	p.S885C	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S897C|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S97C	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	897						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATAATCATAAGATTTGTTAAA	0.388													13	64					0	0	0	0	C	81593596	G	C	81593596	3	2	471	1	0	0	0	0	1	0	0	0	2573	942	33	2	649	2	CACNA2D1	7	81593596	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	49716019	81593596	77545067	42	91145											
AKAP9	10142	broad.mit.edu	37	chr7	91624076	91624076	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagagtcaaaaattacagAttcaatttcagcaagtaagt	19	10	6	6	0	3	2	3	0	0	2	3	2	3	2	0	0	3	2	0	0	7	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:91624076A>T	ENST00000359028.2	+	7	979	c.754A>T	c.(754-756)Att>Ttt	p.I252F	AKAP9_ENST00000356239.3_Missense_Mutation_p.I240F|AKAP9_ENST00000394564.1_Missense_Mutation_p.I240F|AKAP9_ENST00000358100.2_Missense_Mutation_p.I252F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	252	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAATTACAGATTCAATTTCA	0.274			T	BRAF	papillary thyroid								9	42					0	0	0	0	T	91624076	A	T	91624076	3	4	471	1	0	0	0	0	1	0	0	0	459	333	12	5	740	5	AKAP9	7	91624076	Missense_Mutation	SNP	A	TCGA-QK-A64Z-01A-11D-A30E-08	10030480	91624076	67514587	43	91146											
ARMC10	83787	broad.mit.edu	37	chr7	102738893	102738893	+	Frame_Shift_Del	DEL	T	T	-																															ctttcactgaaggttcattgTttttcctgttacatggagaa																										TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:102738893delT	ENST00000323716.3	+	7	1317	c.925delT	c.(925-927)ttfs	p.F310fs	ARMC10_ENST00000441711.2_Frame_Shift_Del_p.F275fs|ARMC10_ENST00000428183.2_Frame_Shift_Del_p.F251fs|ARMC10_ENST00000541300.1_Frame_Shift_Del_p.F192fs|ARMC10_ENST00000425331.1_Frame_Shift_Del_p.F251fs|ARMC10_ENST00000454559.1_Frame_Shift_Del_p.F216fs	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	310					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGGTTCATTGTTTTTCCTGTT	0.383													15	37	---	---	---	---					-	102738893	T	-	102738893	7	5	471	1	0	1	0	1	0	0	0	0	954	1725	60	0	951	0	ARMC10	7	102738893	Frame_Shift_Del	DEL	T	TCGA-QK-A64Z-01A-11D-A30E-08	11114817	102738893	56399770	44	91147											
SLC13A1	6561	broad.mit.edu	37	chr7	122774542	122774542	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgggaaggaaaacgtaAaccatgatccaaagttgagg	16	6	12	7	1	0	2	0	2	0	0	1	4	1	4	2	3	3	3	2	3	6	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:122774542A>G	ENST00000194130.2	-	8	893	c.854T>C	c.(853-855)tTt>tCt	p.F285S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	285						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGAAAACGTAAACCATGATCC	0.433													5	39					0	0	0	0	G	122774542	A	G	122774542	3	3	471	1	0	0	0	0	1	0	0	0	14479	14	1	5	965	5	SLC13A1	7	122774542	Missense_Mutation	SNP	A	TCGA-QK-A64Z-01A-11D-A30E-08	20035649	122774542	36364121	45	91148											
UBN2	254048	broad.mit.edu	37	chr7	138968054	138968054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaagcctcgtccaggactGagagaagaaaaattagcaag	18	5	10	8	1	0	3	0	1	0	2	2	5	1	4	2	1	2	1	2	1	6	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:138968054G>A	ENST00000288561.8	+	15	2403	c.2154G>A	c.(2152-2154)ctG>ctA	p.L718L	UBN2_ENST00000473989.2_Silent_p.L801L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	801										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCCAGGACTGAGAGAAGAAA	0.433													14	67					0	0	0	0	A	138968054	G	A	138968054	2	1	471	1	0	0	0	0	0	0	0	1	16989	1277	45	2		2	UBN2	7	138968054	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	16193512	138968054	20170609	46	91149											
PNMA2	10687	broad.mit.edu	37	chr8	26366192	26366192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctcaaagtccgccGgtatccccgtaaccatcagt	9	8	7	17	3	2	0	2	0	0	0	5	0	5	0	7	1	2	2	7	1	3	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:26366192G>A	ENST00000522362.2	-	3	974	c.80C>T	c.(79-81)cCg>cTg	p.P27L		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	27					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aaagtccgccggtatccccgt	0.512													33	101					0	0	0	0	A	26366192	G	A	26366192	3	1	471	1	0	0	0	0	1	0	0	0	12226	1116	39	1	1018	1	PNMA2	8	26366192	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		26366192	119997830	47	91150											
XKR4	114786	broad.mit.edu	37	chr8	56015801	56015801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtcctgctccttctgCatctggctcctgcagtcact	3	14	8	16	1	4	0	1	0	3	0	7	0	7	0	3	1	4	4	3	1	0	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:56015801C>G	ENST00000327381.5	+	1	853	c.753C>G	c.(751-753)tgC>tgG	p.C251W		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	251						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCCTTCTGCATCTGGCTCC	0.607													12	99					0	0	0	0	G	56015801	C	G	56015801	3	3	471	1	0	0	0	0	1	0	0	0	17529	718	25	4	755	4	XKR4	8	56015801	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	29649609	56015801	90348221	48	91151											
TRPA1	8989	broad.mit.edu	37	chr8	72946534	72946534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagccagaagaaggaaGataaatacaactgtagacct	20	5	8	8	0	0	4	0	0	0	4	0	5	0	5	3	1	3	1	3	1	10	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:72946534G>T	ENST00000262209.4	-	22	2841	c.2634C>A	c.(2632-2634)atC>atA	p.I878I	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	878						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAAGAAGGAAGATAAATACAA	0.308													15	55					1.5739e-10	1.6513e-10	1	0	T	72946534	G	T	72946534	2	4	471	1	0	0	0	0	0	0	0	1	16672	932	33	2		2	TRPA1	8	72946534	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	16930733	72946534	73417488	49	91152											
CDKN2A	1029	broad.mit.edu	37	chr9	21968242	21968242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctttcaatcggggatgtCtgcagagggcagaaagaaaa	13	9	13	6	1	3	3	1	0	2	3	4	4	3	4	0	3	1	3	0	3	4	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	29					0	0	0	0	T	21968242	C	T	21968242	5	4	471	1	0	0	0	0	0	0	1	0	3190	927	32	2	17	2	CDKN2A	9	21968242	Splice_Site	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		21968242	119245189	50	91153											
CREB3	10488	broad.mit.edu	37	chr9	35733425	35733425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagtactgacagatgaggaGaagagtctattggagaagga	15	8	14	4	0	1	6	0	2	1	4	1	9	1	7	0	3	1	1	0	3	5	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:35733425G>A	ENST00000353704.2	+	4	816	c.378G>A	c.(376-378)gaG>gaA	p.E126E	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	150					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CAGATGAGGAGAAGAGTCTAT	0.483													113	328					0	0	0	0	A	35733425	G	A	35733425	2	1	471	1	0	0	0	0	0	0	0	1	3885	933	33	2		2	CREB3	9	35733425	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	13765183	35733425	105480006	51	91154											
TRPM6	140803	broad.mit.edu	37	chr9	77431589	77431589	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattttcactataccttcCagtgttgttcataaattagg	10	18	5	8	0	3	0	3	0	0	0	4	0	4	0	2	1	1	2	2	1	5	10			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:77431589C>T	ENST00000451710.3	-	11	1541	c.1304G>A	c.(1303-1305)tGg>tAg	p.W435*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W430*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.W435*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.W435*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W430*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W435*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.W435*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	435					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTATACCTTCCAGTGTTGTTC	0.378													19	47					0	0	0	0	T	77431589	C	T	77431589	4	4	471	1	0	0	0	0	0	1	0	0	16685	595	21	4	4880	4	TRPM6	9	77431589	Nonsense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	41698164	77431589	63781842	52	91155											
FKTN	2218	broad.mit.edu	37	chr9	108370142	108370142	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgatggactggaagttctCattccaaaggatccaatgca	12	11	10	8	0	1	1	1	1	1	0	4	4	3	4	2	3	1	3	2	3	3	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:108370142C>G	ENST00000223528.2	+	6	814	c.690C>G	c.(688-690)ctC>ctG	p.L230L	FKTN_ENST00000540160.1_Silent_p.L230L|FKTN_ENST00000448551.2_Silent_p.L230L|FKTN_ENST00000357998.5_Silent_p.L230L|FKTN_ENST00000602661.1_Silent_p.L230L	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	230					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TGGAAGTTCTCATTCCAAAGG	0.413													11	63					0	0	0	0	G	108370142	C	G	108370142	2	3	471	1	0	0	0	0	0	0	0	1	5964	813	29	2		2	FKTN	9	108370142	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	30938553	108370142	32843289	53	91156											
ZMIZ1	57178	broad.mit.edu	37	chr10	81050825	81050825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaactccccacagtttgCggggcagcagcagcagttct	8	8	10	15	1	2	0	1	0	1	0	3	0	3	0	3	2	5	6	3	2	1	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:81050825C>T	ENST00000334512.5	+	10	1222	c.650C>T	c.(649-651)gCg>gTg	p.A217V	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	217					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCACAGTTTGCGGGGCAGCAG	0.637													4	142					0	0	0	0	T	81050825	C	T	81050825	3	4	471	1	0	0	0	0	1	0	0	0	17791	768	27	1	672	1	ZMIZ1	10	81050825	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		81050825	54483922	54	91157											
SFTPD	6441	broad.mit.edu	37	chr10	81701732	81701732	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcccctgtgtttccaggGactccacgctcaccagggac	6	8	11	16	1	1	0	1	0	0	0	3	2	3	2	5	2	1	3	5	2	0	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:81701732G>T	ENST00000372292.3	-	5	568	c.528C>A	c.(526-528)gtC>gtA	p.V176V		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	176	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGTTTCCAGGGACTCCACGCT	0.642													4	131					1	1	1	0	T	81701732	G	T	81701732	2	4	471	1	0	0	0	0	0	0	0	1	14280	1161	41	2		2	SFTPD	10	81701732	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	650907	81701732	53833015	55	91158											
RRP12	23223	broad.mit.edu	37	chr10	99120333	99120333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggggtatctccagctcctCctcctcagcctctttctggt	4	13	9	15	0	4	0	1	0	3	0	8	0	7	0	5	3	2	2	5	3	1	2	rs116818150	by1000genomes	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:99120333C>T	ENST00000370992.4	-	31	3721	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	RRP12_ENST00000536831.1_Missense_Mutation_p.E922K|RRP12_ENST00000315563.6_Missense_Mutation_p.E1104K|RRP12_ENST00000414986.1_Missense_Mutation_p.E1143K|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1204						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCAGCTCCTCCTCCTCAGCC	0.557													10	108					0	0	0	0	T	99120333	C	T	99120333	3	4	471	1	0	0	0	0	1	0	0	0	13771	864	30	2	299	2	RRP12	10	99120333	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	17418601	99120333	36414414	56	91159											
CHUK	1147	broad.mit.edu	37	chr10	101954212	101954212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagctccttgagcacaCggtcctgactctgcacagtg	10	8	9	14	1	1	2	0	2	1	0	3	2	3	2	2	1	4	3	2	1	1	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:101954212C>T	ENST00000370397.7	-	17	1882	c.1796G>A	c.(1795-1797)cGt>cAt	p.R599H	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	599					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CTTGAGCACACGGTCCTGACT	0.408													9	25					0	0	0	0	T	101954212	C	T	101954212	3	4	471	1	0	0	0	0	1	0	0	0	3445	536	19	1	461	1	CHUK	10	101954212	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	2833879	101954212	33580535	57	91160											
OR52R1	119695	broad.mit.edu	37	chr11	4825562	4825562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgggattccaagcaGgatgaaggacacaggatgag	13	5	15	8	0	0	2	0	2	0	0	1	6	1	6	2	5	1	1	2	5	2	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:4825562G>T	ENST00000380382.1	-	1	285	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	OR52R1_ENST00000356069.2_Missense_Mutation_p.L17M|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCCAAGCAGGATGAAGGAC	0.507													5	51					5.9392e-07	6.18063e-07	1	0	T	4825562	G	T	4825562	3	4	471	1	0	0	0	0	1	0	0	0	11202	991	35	4	901	4	OR52R1	11	4825562	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		4825562	130180954	58	91161											
ZNF214	7761	broad.mit.edu	37	chr11	7021988	7021988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatctggctgaagctcttaCcacatgcattacagctataa	13	11	7	10	0	2	2	0	1	2	1	2	2	2	2	1	1	5	4	1	1	5	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:7021988C>A	ENST00000278314.4	-	3	1241	c.926G>T	c.(925-927)gGt>gTt	p.G309V	ZNF214_ENST00000536068.1_Missense_Mutation_p.G309V	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAAGCTCTTACCACATGCATT	0.408													17	102					1.02788e-11	1.09641e-11	1	0	A	7021988	C	A	7021988	3	1	471	1	0	0	0	0	1	0	0	0	17865	507	18	4	898	4	ZNF214	11	7021988	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	2196426	7021988	127984528	59	91162											
NLRP14	338323	broad.mit.edu	37	chr11	7064664	7064664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatattattcagaaggaCgcagagtatgaaaactgcta	17	9	9	6	1	1	3	1	1	0	2	1	4	1	4	0	1	3	4	0	1	8	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:7064664C>T	ENST00000299481.4	+	4	1753	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	469	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.D469D(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTCAGAAGGACGCAGAGTATG	0.408													8	108					0	0	0	0	T	7064664	C	T	7064664	2	4	471	1	0	0	0	0	0	0	0	1	10546	535	19	1		1	NLRP14	11	7064664	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	42676	7064664	127941852	60	91163											
NDUFA9	4704	broad.mit.edu	37	chr12	4796253	4796253	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgaggatgtgaagccGgccaagaccgtcaacattta	14	8	11	8	2	1	3	1	2	0	1	1	5	1	4	3	2	2	0	3	2	5	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:4796253G>C	ENST00000266544.5	+	11	1133	c.1113G>C	c.(1111-1113)ccG>ccC	p.P371P	RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Silent_p.P130P	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	371					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	ATGTGAAGCCGGCCAAGACCG	0.552													8	38					0	0	0	0	C	4796253	G	C	4796253	2	2	471	1	0	0	0	0	0	0	0	1	10342	1103	39	3		3	NDUFA9	12	4796253	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		4796253	129055642	61	91164											
RAPGEF3	10411	broad.mit.edu	37	chr12	48151827	48151830	+	Frame_Shift_Del	DEL	CCCA	CCCA	-																															ggctatcctccacagccaggCccacctgccagcagctctca																										TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:48151827_48151830delCCCA	ENST00000395358.3	-	2	126_129	c.38_41delTGGG	c.(37-42)gcfs	p.VG13fs	RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000405493.2_5'UTR|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000171000.4_5'UTR|RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000549151.1_5'UTR|RAPGEF3_ENST00000548919.1_5'UTR			A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	0					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CACAGCCAGGCCCACCTGCCAGCA	0.657													8	5	---	---	---	---					-	48151830	CCCA	-	48151827	7	5	471	1	0	1	0	1	0	0	0	0	13127	739	26	0	2838	0	RAPGEF3	12	48151827	Frame_Shift_Del	DEL	CCCA	TCGA-QK-A64Z-01A-11D-A30E-08	43355574	48151827	85700068	62	91165											
GLT8D2	83468	broad.mit.edu	37	chr12	104397074	104397074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcttcaggagtctcGgattcatcatctggaaacat	10	13	8	10	1	6	0	3	0	3	0	8	3	7	3	1	3	1	1	1	3	1	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:104397074G>A	ENST00000360814.4	-	5	528	c.123C>T	c.(121-123)tcC>tcT	p.S41S	GLT8D2_ENST00000548660.1_Silent_p.S41S|GLT8D2_ENST00000546436.1_Silent_p.S41S	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	41						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CAGGAGTCTCGGATTCATCAT	0.458													4	96					0	0	0	0	A	104397074	G	A	104397074	2	1	471	1	0	0	0	0	0	0	0	1	6521	1103	39	1		1	GLT8D2	12	104397074	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	56245247	104397074	29454821	63	91166											
ISCU	23479	broad.mit.edu	37	chr12	108957917	108957917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcattgacatgagtgtaGacctttctactcaggtgaaa	11	14	8	8	0	3	4	2	3	2	1	4	4	3	4	1	1	1	1	1	1	3	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:108957917G>C	ENST00000338291.4	+	2	213	c.25G>C	c.(25-27)Gac>Cac	p.D9H	ISCU_ENST00000539593.1_Intron|ISCU_ENST00000547005.1_Intron|ISCU_ENST00000392807.4_Missense_Mutation_p.D9H|ISCU_ENST00000311893.9_Intron|ISCU_ENST00000535729.1_Intron|ISCU_ENST00000431221.2_Intron			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	0					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						CATGAGTGTAGACCTTTCTAC	0.408													30	109					0	0	0	0	C	108957917	G	C	108957917	3	2	471	1	0	0	0	0	1	0	0	0	7905	942	33	2	27	2	ISCU	12	108957917	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	4560843	108957917	24893978	64	91167											
RPLP0	6175	broad.mit.edu	37	chr12	120636928	120636928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgtccccttaccttattgGccagcaacatgtccctgatc	8	13	6	14	0	0	1	0	1	0	0	3	1	2	1	5	1	3	1	5	1	3	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:120636928G>A	ENST00000551150.1	-	3	626	c.311C>T	c.(310-312)gCc>gTc	p.A104V	RPLP0_ENST00000228306.4_Missense_Mutation_p.A104V|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000546989.1_Missense_Mutation_p.A104V|RPLP0_ENST00000313104.5_Missense_Mutation_p.A104V|RPLP0_ENST00000392514.4_Missense_Mutation_p.A104V			P05388	RLA0_HUMAN	ribosomal protein, large, P0	104					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACCTTATTGGCCAGCAACAT	0.478													10	38					0	0	0	0	A	120636928	G	A	120636928	3	1	471	1	0	0	0	0	1	0	0	0	13689	1203	42	4	662	4	RPLP0	12	120636928	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	11679011	120636928	13214967	65	91168											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687267	123687267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggactgactgactgaggccGaagcaaccatgacagtgttt	11	8	13	9	1	0	4	0	4	0	0	0	6	0	5	2	2	2	2	2	2	2	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:123687267G>A	ENST00000606320.1	-	10	1891	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S410L|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S410L|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S532L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	410					M phase of mitotic cell cycle	centriole|Golgi membrane		p.S410L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GACTGAGGCCGAAGCAACCAT	0.438													4	79					0	0	0	0	A	123687267	G	A	123687267	3	1	471	1	0	0	0	0	1	0	0	0	9798	1059	37	1	1926	1	MPHOSPH9	12	123687267	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	3050339	123687267	10164628	66	91169											
EPSTI1	94240	broad.mit.edu	37	chr13	43543251	43543251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagccgtctgggcaccaggtGaaccggtttagctctgttct	6	12	12	11	2	3	1	0	1	3	0	3	1	3	1	3	3	3	4	3	3	3	4	rs142946395		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:43543251G>C	ENST00000313640.7	-	3	374	c.310C>G	c.(310-312)Cac>Gac	p.H104D	EPSTI1_ENST00000313624.7_Missense_Mutation_p.H104D|EPSTI1_ENST00000398762.3_Missense_Mutation_p.H104D|EPSTI1_ENST00000476830.2_5'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	104										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GGCACCAGGTGAACCGGTTTA	0.547													6	53					0	0	0	0	C	43543251	G	C	43543251	3	2	471	1	0	0	0	0	1	0	0	0	5236	1290	45	2	966	2	EPSTI1	13	43543251	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		43543251	71626627	67	91170											
NALCN	259232	broad.mit.edu	37	chr13	101721054	101721054	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacatcacttacctacaagCagatttagcatgatgtaggc	14	11	7	9	0	1	2	1	1	0	1	1	2	1	2	1	1	5	3	1	1	6	6			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:101721054C>A	ENST00000251127.6	-	38	4404	c.4323G>T	c.(4321-4323)ctG>ctT	p.L1441L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1441						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTACAAGCAGATTTAGCA	0.333													6	29					0.00116845	0.00118699	1	0	A	101721054	C	A	101721054	2	1	471	1	0	0	0	0	0	0	0	1	10218	697	25	4		4	NALCN	13	101721054	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	58177803	101721054	13448824	68	91171											
FAM155A	728215	broad.mit.edu	37	chr13	108518153	108518153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtcctggtaagcctcgacGcactgcctgcaagtggtcat	8	10	11	12	2	1	0	1	0	0	0	3	1	2	0	3	2	3	3	3	2	3	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:108518153G>A	ENST00000375915.2	-	1	930	c.792C>T	c.(790-792)tgC>tgT	p.C264C		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	264						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGCCTCGACGCACTGCCTGC	0.517													4	138					0	0	0	0	A	108518153	G	A	108518153	2	1	471	1	0	0	0	0	0	0	0	1	5506	1079	38	1		1	FAM155A	13	108518153	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	6797099	108518153	6651725	69	91172											
OR4K5	79317	broad.mit.edu	37	chr14	20389326	20389326	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcgagtcaccaaactTgcctgcctggactcttacat	8	12	6	15	1	2	0	1	0	1	0	4	2	3	1	4	1	4	0	4	1	2	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:20389326T>G	ENST00000315915.4	+	1	586	c.561T>G	c.(559-561)ctT>ctG	p.L187L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCAAACTTGCCTGCCTGG	0.403													17	350					0	0	0	0	G	20389326	T	G	20389326	2	3	471	1	0	0	0	0	0	0	0	1	11144	1799	63	5		5	OR4K5	14	20389326	Silent	SNP	T	TCGA-QK-A64Z-01A-11D-A30E-08		20389326	86960214	70	91173											
NIN	51199	broad.mit.edu	37	chr14	51224911	51224911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgctccctcagttccCttttgtgactgctcttcagc	4	14	6	17	1	4	1	3	1	1	0	6	1	6	1	3	0	2	3	3	0	0	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:51224911C>G	ENST00000245441.5	-	18	3027	c.2837G>C	c.(2836-2838)aGg>aCg	p.R946T	NIN_ENST00000530997.2_Missense_Mutation_p.R946T|NIN_ENST00000453196.1_Missense_Mutation_p.R946T|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.R946T|NIN_ENST00000324330.9_Missense_Mutation_p.R946T	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	946					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCTCAGTTCCCTTTTGTGACT	0.542			T	PDGFRB	MPD								49	148					0	0	0	0	G	51224911	C	G	51224911	3	3	471	1	0	0	0	0	1	0	0	0	10487	681	24	4	3768	4	NIN	14	51224911	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	30835585	51224911	56124629	71	91174											
NIN	51199	broad.mit.edu	37	chr14	51225167	51225167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggtgagctcgtccttctCaaattcccactgggatttct	6	14	9	12	1	2	1	1	1	2	0	6	2	4	2	2	2	1	1	2	2	1	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:51225167C>G	ENST00000245441.5	-	18	2771	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	NIN_ENST00000530997.2_Missense_Mutation_p.E861Q|NIN_ENST00000453196.1_Missense_Mutation_p.E861Q|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.E861Q|NIN_ENST00000324330.9_Missense_Mutation_p.E861Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	861					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCGTCCTTCTCAAATTCCCAC	0.562			T	PDGFRB	MPD								9	54					0	0	0	0	G	51225167	C	G	51225167	3	3	471	1	0	0	0	0	1	0	0	0	10487	835	29	2	4024	2	NIN	14	51225167	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	256	51225167	56124373	72	91175											
TMEM121	80757	broad.mit.edu	37	chr14	105995411	105995411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacgccatgatcctgtggttCctttacatcttcgtgctgga	6	15	9	11	2	1	1	0	1	1	0	4	2	3	2	3	2	3	2	3	2	2	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:105995411C>T	ENST00000392519.2	+	2	404	c.240C>T	c.(238-240)ttC>ttT	p.F80F	TMEM121_ENST00000431372.1_Silent_p.F80F	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	80						integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		TCCTGTGGTTCCTTTACATCT	0.662													5	29					0	0	0	0	T	105995411	C	T	105995411	2	4	471	1	0	0	0	0	0	0	0	1	16129	854	30	2		2	TMEM121	14	105995411	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	54770244	105995411	1354129	73	91176											
CLPX	10845	broad.mit.edu	37	chr15	65447200	65447200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttgtacaagtgttttctCatctaggctatgcaatggaa	11	16	8	6	0	2	0	1	0	2	0	3	1	2	1	0	2	2	4	0	2	7	7			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:65447200C>T	ENST00000300107.3	-	11	1719	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	511					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGTGTTTTCTCATCTAGGCTA	0.413													8	30					0	0	0	0	T	65447200	C	T	65447200	3	4	471	1	0	0	0	0	1	0	0	0	3586	835	29	2	386	2	CLPX	15	65447200	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		65447200	37084192	74	91177											
MAP2K5	5607	broad.mit.edu	37	chr15	68040920	68040920	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcagcctctccagcttcTgcagtgcattgttgatgagg	7	13	11	10	0	2	2	0	2	2	0	3	2	2	2	2	1	5	5	2	1	0	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:68040920T>A	ENST00000178640.5	+	19	1742	c.1115T>A	c.(1114-1116)cTg>cAg	p.L372Q	MAP2K5_ENST00000354498.5_Missense_Mutation_p.L336Q|MAP2K5_ENST00000340972.4_Missense_Mutation_p.L182Q|MAP2K5_ENST00000395476.2_Missense_Mutation_p.L362Q	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	372	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						CTCCAGCTTCTGCAGTGCATT	0.383													14	42					0	0	0	0	A	68040920	T	A	68040920	3	1	471	1	0	0	0	0	1	0	0	0	9309	1580	55	5	1189	5	MAP2K5	15	68040920	Missense_Mutation	SNP	T	TCGA-QK-A64Z-01A-11D-A30E-08	2593720	68040920	34490472	75	91178											
ADPGK	83440	broad.mit.edu	37	chr15	73047994	73047994	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcagaaatggaggttacaAcctgcaaagagaagaagata	18	7	11	5	0	1	4	1	0	0	4	1	6	1	5	1	2	3	2	1	2	7	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:73047994A>T	ENST00000311669.8	-	6	935	c.840_splice	c.e6-1	p.V281_splice	ADPGK_ENST00000456471.2_Splice_Site_p.V7_splice|ADPGK_ENST00000567733.1_5'UTR	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	281	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GGAGGTTACAACCTGCAAAGA	0.463													7	64					0	0	0	0	T	73047994	A	T	73047994	5	4	471	1	0	0	0	0	0	0	1	0	330	57	2	5	656	5	ADPGK	15	73047994	Splice_Site	SNP	A	TCGA-QK-A64Z-01A-11D-A30E-08	5007074	73047994	29483398	76	91179											
KIAA1199	57214	broad.mit.edu	37	chr15	81188376	81188376	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttccctgcagatcctgCgcccccaaccaggtcaaagt	8	8	9	16	1	1	1	1	0	0	1	3	1	3	1	5	1	4	2	5	1	2	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:81188376C>T	ENST00000394685.3	+	12	1805	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	KIAA1199_ENST00000356249.5_Silent_p.C462C|KIAA1199_ENST00000220244.3_Silent_p.C462C			Q8WUJ3	K1199_HUMAN	KIAA1199	462										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCAGATCCTGCGCCCCCAACC	0.463													4	92					0	0	0	0	T	81188376	C	T	81188376	2	4	471	1	0	0	0	0	0	0	0	1	8264	776	27	1		1	KIAA1199	15	81188376	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	8140382	81188376	21343016	77	91180											
PDPR	55066	broad.mit.edu	37	chr16	70187310	70187310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtacgccctgcatgtatAcaatgaagtgatgagtgttg	12	12	11	6	1	0	3	0	3	0	0	0	3	0	3	1	0	3	4	1	0	6	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:70187310A>G	ENST00000288050.4	+	18	3026	c.2069A>G	c.(2068-2070)tAc>tGc	p.Y690C	PDPR_ENST00000562100.1_Intron|PDPR_ENST00000567046.1_Missense_Mutation_p.Y48C|PDPR_ENST00000398122.3_Missense_Mutation_p.Y590C|PDPR_ENST00000568530.1_Missense_Mutation_p.Y690C|PDPR_ENST00000542659.1_Missense_Mutation_p.Y35C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	690					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGCATGTATACAATGAAGTG	0.468													6	40					0	0	0	0	G	70187310	A	G	70187310	3	3	471	1	0	0	0	0	1	0	0	0	11760	391	14	5	2131	5	PDPR	16	70187310	Missense_Mutation	SNP	A	TCGA-QK-A64Z-01A-11D-A30E-08		70187310	20167443	78	91181											
MTSS1L	92154	broad.mit.edu	37	chr16	70698221	70698221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagtggaggctgggcGcttggtctggatcaggcggc	5	7	18	11	2	2	0	1	0	1	0	2	2	2	2	1	7	1	3	1	7	0	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:70698221G>A	ENST00000338779.6	-	15	1877	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	535					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GAGGCTGGGCGCTTGGTCTGG	0.716													13	33					0	0	0	0	A	70698221	G	A	70698221	3	1	471	1	0	0	0	0	1	0	0	0	10033	1087	38	1	644	1	MTSS1L	16	70698221	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	510911	70698221	19656532	79	91182											
WDR59	79726	broad.mit.edu	37	chr16	74951892	74951892	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggaccacgtcaccagttGatagtccttggaccctagaa	10	8	10	13	2	1	2	1	1	0	1	2	4	2	4	5	2	0	1	5	2	3	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:74951892G>A	ENST00000262144.6	-	11	1031	c.901C>T	c.(901-903)Caa>Taa	p.Q301*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	301										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GTCACCAGTTGATAGTCCTTG	0.458													18	76					0	0	0	0	A	74951892	G	A	74951892	4	1	471	1	0	0	0	0	0	1	0	0	17404	1299	45	2	2087	2	WDR59	16	74951892	Nonsense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	4253671	74951892	15402861	80	91183											
CHST5	23563	broad.mit.edu	37	chr16	75563437	75563437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgcgcaggaagggtggCggcttgagtgtggcggcctc	4	6	20	11	5	0	1	0	1	0	0	1	2	0	2	2	7	0	2	2	7	1	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:75563437C>T	ENST00000336257.3	-	3	2240	c.846G>A	c.(844-846)ccG>ccA	p.P282P	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.P288P	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	282					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGAAGGGTGGCGGCTTGAGTG	0.711													4	141					0	0	0	0	T	75563437	C	T	75563437	2	4	471	1	0	0	0	0	0	0	0	1	3436	755	27	1		1	CHST5	16	75563437	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	611545	75563437	14791316	81	91184											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			7	28					0	0	0	0	A	7577121	G	A	7577121	3	1	471	1	0	0	0	0	1	0	0	0	16476	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		7577121	73618089	82	91185											
LGALS9C	654346	broad.mit.edu	37	chr17	18392258	18392258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccttttgttttaacagaatCcccgcgcagtccccgttcag	7	12	8	14	3	1	1	1	0	0	1	3	1	3	1	5	0	1	3	5	0	2	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:18392258C>T	ENST00000328114.6	+	5	529	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	LGALS9C_ENST00000412421.2_Missense_Mutation_p.P62S|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000583322.1_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	150							sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TTAACAGAATCCCCGCGCAGT	0.592													8	56					0	0	0	0	T	18392258	C	T	18392258	3	4	471	1	0	0	0	0	1	0	0	0	8804	855	30	2	466	2	LGALS9C	17	18392258	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	10815137	18392258	62802952	83	91186											
KRT23	25984	broad.mit.edu	37	chr17	39086251	39086251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattccttccacctcctgttCtaggtctgttgtgacaatgg	6	15	8	12	0	2	1	0	1	2	0	5	1	5	1	4	2	0	2	4	2	2	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:39086251C>G	ENST00000209718.3	-	4	1001	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	KRT23_ENST00000436344.3_Missense_Mutation_p.E56Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	193	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ACCTCCTGTTCTAGGTCTGTT	0.458													20	92					0	0	0	0	G	39086251	C	G	39086251	3	3	471	1	0	0	0	0	1	0	0	0	8512	922	32	2	715	2	KRT23	17	39086251	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	20693993	39086251	42108959	84	91187											
HEATR6	63897	broad.mit.edu	37	chr17	58150579	58150579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcctgacttcaggatcaGactgagccaagtcactcaac	11	9	7	14	0	5	3	4	2	1	1	6	4	5	4	2	1	2	0	2	1	2	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:58150579G>C	ENST00000184956.6	-	4	546	c.530C>G	c.(529-531)tCt>tGt	p.S177C	HEATR6_ENST00000585976.1_Missense_Mutation_p.S177C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	177							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCAGGATCAGACTGAGCCAA	0.433													16	56					0	0	0	0	C	58150579	G	C	58150579	3	2	471	1	0	0	0	0	1	0	0	0	7083	942	33	2	3083	2	HEATR6	17	58150579	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	19064328	58150579	23044631	85	91188											
RNF213	57674	broad.mit.edu	37	chr17	78332134	78332134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctgtcacccctctgctgGcgagcatgatatcattcatc	7	12	9	13	1	4	1	3	1	1	0	5	2	4	1	2	1	3	3	2	1	1	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:78332134G>A	ENST00000582970.1	+	37	11052	c.10909G>A	c.(10909-10911)Gcg>Acg	p.A3637T	RNF213_ENST00000336301.6_Missense_Mutation_p.A1710T|RNF213_ENST00000508628.2_Missense_Mutation_p.A3686T|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			CCCTCTGCTGGCGAGCATGAT	0.562													12	60					0	0	0	0	A	78332134	G	A	78332134	3	1	471	1	0	0	0	0	1	0	0	0	13562	1203	42	4	11370	4	RNF213	17	78332134	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	20181555	78332134	2863076	86	91189											
ZNF519	162655	broad.mit.edu	37	chr18	14105477	14105477	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccctgttaaaggctttGccacattcttcacatttgaa	10	13	6	12	0	2	1	1	1	1	0	2	2	2	1	3	1	1	2	3	1	3	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr18:14105477G>T	ENST00000590202.1	-	3	1214	c.1062C>A	c.(1060-1062)ggC>ggA	p.G354G	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TAAAGGCTTTGCCACATTCTT	0.418													24	99					3.5997e-14	3.87195e-14	1	0	T	14105477	G	T	14105477	2	4	471	1	0	0	0	0	0	0	0	1	18059	1306	46	4		4	ZNF519	18	14105477	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		14105477	63971771	87	91190											
CDH20	28316	broad.mit.edu	37	chr18	59174703	59174703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggcatcaatgcagagatGaaatatactattgtggatgg	15	10	12	4	0	1	2	1	1	0	1	1	5	1	3	0	3	2	2	0	3	6	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr18:59174703G>A	ENST00000262717.4	+	6	1325	c.927G>A	c.(925-927)atG>atA	p.M309I	CDH20_ENST00000536675.2_Missense_Mutation_p.M309I|CDH20_ENST00000538374.1_Missense_Mutation_p.M309I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	309	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATGCAGAGATGAAATATACTA	0.428													9	56					0	0	0	0	A	59174703	G	A	59174703	3	1	471	1	0	0	0	0	1	0	0	0	3135	1290	45	2	945	2	CDH20	18	59174703	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	45069226	59174703	18902545	88	91191											
TBXA2R	6915	broad.mit.edu	37	chr19	3600021	3600021	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcccgaccgagaggccGcccagcatggagaagagcag	12	1	15	13	3	0	3	0	0	0	3	0	7	0	3	4	2	3	2	4	2	1	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:3600021G>A	ENST00000375190.4	-	2	1005	c.612C>T	c.(610-612)ggC>ggT	p.G204G	TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000411851.3_Silent_p.G204G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	204					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGAGAGGCCGCCCAGCATGG	0.701													8	48					0	0	0	0	A	3600021	G	A	3600021	2	1	471	1	0	0	0	0	0	0	0	1	15757	1074	38	1		1	TBXA2R	19	3600021	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		3600021	55528962	89	91192											
MYO1F	4542	broad.mit.edu	37	chr19	8601169	8601169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgacaaagaccttggtgctCcccatctggtactggtcggg	7	11	12	11	1	1	2	0	1	1	1	3	2	2	2	3	4	2	2	3	4	2	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:8601169C>T	ENST00000338257.8	-	19	2277	c.2010G>A	c.(2008-2010)ggG>ggA	p.G670G		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	670	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTTGGTGCTCCCCATCTGGT	0.612													18	89					0	0	0	0	T	8601169	C	T	8601169	2	4	471	1	0	0	0	0	0	0	0	1	10143	842	30	2		2	MYO1F	19	8601169	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	5001148	8601169	50527814	90	91193											
MUC16	94025	broad.mit.edu	37	chr19	9066224	9066224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccaggacctctgctcatGagagtggtcatctctgagtg	7	12	11	11	0	5	2	2	2	3	1	7	4	5	3	2	2	1	1	2	2	0	0			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:9066224G>A	ENST00000397910.4	-	3	21425	c.21222C>T	c.(21220-21222)ctC>ctT	p.L7074L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7076	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGCTCATGAGAGTGGTCA	0.502													22	71					0	0	0	0	A	9066224	G	A	9066224	2	1	471	1	0	0	0	0	0	0	0	1	10043	1277	45	2		2	MUC16	19	9066224	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	465055	9066224	50062759	91	91194											
ZNF257	113835	broad.mit.edu	37	chr19	22271732	22271732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactaaacataagagaattCatactagagagaaggcctac	18	9	7	7	0	1	3	1	0	0	3	1	5	1	3	1	1	4	0	1	1	9	7			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:22271732C>A	ENST00000594947.1	+	4	1324	c.1180C>A	c.(1180-1182)Cat>Aat	p.H394N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAGAATTCATACTAGAGA	0.363													8	23					0.00307968	0.00310393	1	0	A	22271732	C	A	22271732	3	1	471	1	0	0	0	0	1	0	0	0	17895	826	29	2	1194	2	ZNF257	19	22271732	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	13205508	22271732	36857251	92	91195											
MEGF8	1954	broad.mit.edu	37	chr19	42839327	42839327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtattggggcagctggCgccttcctgtccccaccagg	4	8	13	16	2	0	0	0	0	0	0	2	0	2	0	6	4	1	3	6	4	1	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:42839327C>T	ENST00000334370.4	+	4	1334	c.699C>T	c.(697-699)ggC>ggT	p.G233G	MEGF8_ENST00000251268.6_Silent_p.G233G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	233						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCAGCTGGCGCCTTCCTGT	0.657													3	32					0	0	0	0	T	42839327	C	T	42839327	2	4	471	1	0	0	0	0	0	0	0	1	9532	755	27	1		1	MEGF8	19	42839327	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	20567595	42839327	16289656	93	91196											
ZNF611	81856	broad.mit.edu	37	chr19	53209567	53209567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatggggtatctggtgtttCcttaagagtgagctacaatt	11	14	11	5	0	1	2	0	1	1	1	2	2	2	2	1	3	2	3	1	3	5	5			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:53209567C>T	ENST00000543227.1	-	6	1015	c.741G>A	c.(739-741)agG>agA	p.R247R	ZNF611_ENST00000595798.1_Silent_p.R178R|ZNF611_ENST00000540744.1_Silent_p.R247R|ZNF611_ENST00000319783.1_Silent_p.R247R|ZNF611_ENST00000602162.1_Silent_p.R178R|ZNF611_ENST00000453741.2_Silent_p.R178R	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTGGTGTTTCCTTAAGAGTG	0.373													31	149					0	0	0	0	T	53209567	C	T	53209567	2	4	471	1	0	0	0	0	0	0	0	1	18132	854	30	2		2	ZNF611	19	53209567	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	10370240	53209567	5919416	94	91197											
CACNG7	59284	broad.mit.edu	37	chr19	54416154	54416154	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgtgtggcctgctcctGgtaggcatcgcggtcagcac	4	9	16	12	3	1	0	1	0	0	0	3	0	2	0	2	5	3	4	2	5	1	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:54416154G>C	ENST00000391767.1	+	2	281	c.69G>C	c.(67-69)ctG>ctC	p.L23L	CACNG7_ENST00000391766.1_Silent_p.L23L|CACNG7_ENST00000222212.2_Silent_p.L23L|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	23					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTGCTCCTGGTAGGCATCG	0.652													4	49					0	0	0	0	C	54416154	G	C	54416154	2	2	471	1	0	0	0	0	0	0	0	1	2587	1335	47	4		4	CACNG7	19	54416154	Silent	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	1206587	54416154	4712829	95	91198											
TMC4	147798	broad.mit.edu	37	chr19	54666452	54666452	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactgccaagacagtcagcaGatcaaagagcagaagtttgt	15	7	11	8	0	2	4	2	0	0	4	2	5	2	4	1	0	3	3	1	0	3	1			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:54666452G>C	ENST00000376591.4	-	10	1605	c.1474C>G	c.(1474-1476)Ctg>Gtg	p.L492V	TMC4_ENST00000416963.1_Missense_Mutation_p.L74V|TMC4_ENST00000301187.4_Missense_Mutation_p.L486V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	492						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGTCAGCAGATCAAAGAGC	0.572													13	45					0	0	0	0	C	54666452	G	C	54666452	3	2	471	1	0	0	0	0	1	0	0	0	16081	933	33	2	688	2	TMC4	19	54666452	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	250298	54666452	4462531	96	91199											
NFATC2	4773	broad.mit.edu	37	chr20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagtagtggatcacaggcGaggcctgctggttggtcgga	7	9	18	7	2	1	1	1	1	0	0	2	4	1	3	1	6	1	3	1	6	1	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr20:50048903G>A	ENST00000371564.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000396009.3_Missense_Mutation_p.S808L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	808					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.S808L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647													29	94					0	0	0	0	A	50048903	G	A	50048903	3	1	471	1	0	0	0	0	1	0	0	0	10432	1059	37	1	410	1	NFATC2	20	50048903	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08		50048903	12976617	97	91200											
SLMO2	51012	broad.mit.edu	37	chr20	57611811	57611811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaaaccatgtttgtaaatGaaatctacagaatgaagaaa	19	10	7	5	0	1	5	0	3	1	2	1	5	1	5	1	0	2	2	1	0	8	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr20:57611811G>A	ENST00000355937.4	-	4	474	c.296C>T	c.(295-297)tCa>tTa	p.S99L	SLMO2_ENST00000371033.5_Missense_Mutation_p.S69L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	99	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			GTTTGTAAATGAAATCTACAG	0.284													4	14					0	0	0	0	A	57611811	G	A	57611811	3	1	471	1	0	0	0	0	1	0	0	0	14839	1294	45	2	300	2	SLMO2	20	57611811	Missense_Mutation	SNP	G	TCGA-QK-A64Z-01A-11D-A30E-08	7562908	57611811	5413709	98	91201											
FAM47B	170062	broad.mit.edu	37	chrX	34961123	34961123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagggcatggacgacttcCgctacgcctgtcagtctcct	6	9	12	14	4	2	0	1	0	1	0	4	3	3	2	3	3	1	2	3	3	1	2			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:34961123C>T	ENST00000329357.5	+	1	211	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	59										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACGACTTCCGCTACGCCTG	0.557													18	64					0	0	0	0	T	34961123	C	T	34961123	3	4	471	1	0	0	0	0	1	0	0	0	5617	652	23	1	177	1	FAM47B	23	34961123	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08		34961123	120309437	99	91202											
BRWD3	254065	broad.mit.edu	37	chrX	79939569	79939569	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatttggcgaacatccttAtaaaattccagaggactacc	15	11	6	9	1	0	1	0	0	0	1	2	3	2	2	3	2	2	0	3	2	7	6			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:79939569A>T	ENST00000373275.4	-	37	4389	c.4173T>A	c.(4171-4173)taT>taA	p.Y1391*	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1391	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAACATCCTTATAAAATTCCA	0.353													16	40					0	0	0	0	T	79939569	A	T	79939569	4	4	471	1	0	0	0	0	0	1	0	0	1534	456	16	5	1255	5	BRWD3	23	79939569	Nonsense_Mutation	SNP	A	TCGA-QK-A64Z-01A-11D-A30E-08	44978446	79939569	75330991	100	91203											
ARMCX3	51566	broad.mit.edu	37	chrX	100880789	100880789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttgaatttggctgaaaatCcagccatgactagggaactg	12	12	10	7	0	0	3	0	3	0	0	1	4	1	4	2	2	2	1	2	2	5	4			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:100880789C>G	ENST00000341189.4	+	5	1686	c.820C>G	c.(820-822)Cca>Gca	p.P274A	ARMCX3_ENST00000471229.2_Missense_Mutation_p.P274A|ARMCX3_ENST00000537169.1_Missense_Mutation_p.P274A	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	274						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTGAAAATCCAGCCATGAC	0.403													21	51					0	0	0	0	G	100880789	C	G	100880789	3	3	471	1	0	0	0	0	1	0	0	0	965	855	30	2	822	2	ARMCX3	23	100880789	Missense_Mutation	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	20941220	100880789	54389771	101	91204											
GABRE	2564	broad.mit.edu	37	chrX	151131017	151131017	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgggatccatagctggctCaccacattgccattcagaac	10	9	8	14	1	2	1	2	0	0	1	4	2	4	2	4	2	3	2	4	2	2	3			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:151131017C>G	ENST00000370325.1	-	4	494	c.441G>C	c.(439-441)gtG>gtC	p.V147V	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.V147V			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	147					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGCTGGCTCACCACATTGC	0.493													27	131					0	0	0	0	G	151131017	C	G	151131017	2	3	471	1	0	0	0	0	0	0	0	1	6218	813	29	2		2	GABRE	23	151131017	Silent	SNP	C	TCGA-QK-A64Z-01A-11D-A30E-08	50250228	151131017	4139543	102	91205											
MIIP	60672	broad.mit.edu	37	chr1	12091374	12091374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtctgagaaaagctcaGcccccaggaacctggacctc	12	5	10	14	1	2	1	1	1	1	1	3	5	2	3	4	2	3	1	4	2	4	0	rs146889396		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:12091374G>A	ENST00000235332.4	+	9	1163	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	MIIP_ENST00000436478.2_Silent_p.Q299Q|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	332										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GAAAAGCTCAGCCCCCAGGAA	0.602													14	61					0	0	0	0	A	12091374	G	A	12091374	3	1	472	1	0	0	0	0	1	0	0	0	9654	971	34	4	1024	4	MIIP	1	12091374	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		12091374	237159247	1	91206											
TGFBR3	7049	broad.mit.edu	37	chr1	92177929	92177929	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttatccatgtcagcttgCgggataggaaagtgcactct	9	13	10	9	1	3	0	1	0	2	0	4	2	4	2	1	2	3	2	1	2	3	4	rs148167041	by1000genomes	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:92177929C>T	ENST00000212355.4	-	13	2502	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	TGFBR3_ENST00000370399.2_Silent_p.P678P|TGFBR3_ENST00000525962.1_Silent_p.P679P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	679	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGTCAGCTTGCGGGATAGGAA	0.433													4	131					0	0	0	0	T	92177929	C	T	92177929	2	4	472	1	0	0	0	0	0	0	0	1	15917	755	27	1		1	TGFBR3	1	92177929	Silent	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	80086555	92177929	157072692	2	91207											
KCNF1	3754	broad.mit.edu	37	chr2	11053214	11053214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgcgtggagcacccgaCgctggagaacgtggagacgg	10	3	16	12	6	0	2	0	0	0	2	0	6	0	3	2	4	3	2	2	4	2	0			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:11053214C>A	ENST00000295082.1	+	1	1152	c.662C>A	c.(661-663)aCg>aAg	p.T221K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCACCCGACGCTGGAGAAC	0.637													6	62					0.0215528	0.0218256	1	0	A	11053214	C	A	11053214	3	1	472	1	0	0	0	0	1	0	0	0	8079	536	19	3	664	3	KCNF1	2	11053214	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08		11053214	232146159	3	91208											
HAAO	23498	broad.mit.edu	37	chr2	42995037	42995037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtccacattctgtctcaggCcttcgctgctgccttgccca	4	12	8	17	2	2	0	1	0	2	0	5	0	3	0	4	1	3	2	4	1	0	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:42995037C>T	ENST00000294973.6	-	8	717	c.662G>A	c.(661-663)gGc>gAc	p.G221D		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	221	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CTGTCTCAGGCCTTCGCTGCT	0.617													21	96					0	0	0	0	T	42995037	C	T	42995037	3	4	472	1	0	0	0	0	1	0	0	0	6987	739	26	4	210	4	HAAO	2	42995037	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	31941823	42995037	200204336	4	91209											
CTNNA2	1496	broad.mit.edu	37	chr2	80646701	80646701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatatgcccaagttttccGtgagcatgccaacaaactgg	13	9	9	10	1	0	2	0	1	0	1	1	2	1	2	3	1	5	2	3	1	5	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:80646701G>A	ENST00000466387.1	+	13	1989	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	CTNNA2_ENST00000361291.4_Missense_Mutation_p.R456H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R422H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R101H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R422H			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	422					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGTTTTCCGTGAGCATGCC	0.443													10	72					0	0	0	0	A	80646701	G	A	80646701	3	1	472	1	0	0	0	0	1	0	0	0	4045	1145	40	1	1087	1	CTNNA2	2	80646701	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	37651664	80646701	162552672	5	91210											
SMPD4	55627	broad.mit.edu	37	chr2	130910698	130910698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggatgggctgcagctccGggtccccctggtactcaatt	5	10	12	14	2	1	0	1	0	0	0	4	1	4	1	4	4	3	4	4	4	2	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:130910698G>A	ENST00000409031.1	-	19	3337	c.2189C>T	c.(2188-2190)cCg>cTg	p.P730L	SMPD4_ENST00000452225.2_Missense_Mutation_p.P471L|SMPD4_ENST00000431183.2_Missense_Mutation_p.P628L|SMPD4_ENST00000443958.2_Missense_Mutation_p.P394L|SMPD4_ENST00000426662.2_Missense_Mutation_p.P366L|SMPD4_ENST00000339679.7_Missense_Mutation_p.P588L|SMPD4_ENST00000351288.6_Missense_Mutation_p.P701L|SMPD4_ENST00000453750.1_Missense_Mutation_p.P479L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	691					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGCAGCTCCGGGTCCCCCTG	0.572													4	136					0	0	0	0	A	130910698	G	A	130910698	3	1	472	1	0	0	0	0	1	0	0	0	14895	1116	39	1	419	1	SMPD4	2	130910698	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	50263997	130910698	112288675	6	91211											
THSD7B	80731	broad.mit.edu	37	chr2	137872846	137872846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtaccagcagctgccgCactgagggccaaggaaggta	11	4	15	11	2	0	1	0	1	0	0	0	3	0	2	3	3	5	5	3	3	4	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:137872846C>T	ENST00000409968.1	+	5	1530	c.1352C>T	c.(1351-1353)gCa>gTa	p.A451V	THSD7B_ENST00000272643.3_Missense_Mutation_p.A451V|THSD7B_ENST00000413152.2_Missense_Mutation_p.A420V|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGCTGCCGCACTGAGGGCC	0.587													6	22					0	0	0	0	T	137872846	C	T	137872846	3	4	472	1	0	0	0	0	1	0	0	0	15974	710	25	4	1273	4	THSD7B	2	137872846	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	6962148	137872846	105326527	7	91212											
ZEB2	9839	broad.mit.edu	37	chr2	145187367	145187367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaggcttgtagaatctcGttgttgtgccaggggtgttc	7	13	14	7	1	1	2	0	0	1	2	3	2	1	2	1	3	1	5	1	3	2	5			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:145187367G>A	ENST00000558170.2	-	3	1484	c.300C>T	c.(298-300)aaC>aaT	p.N100N	ZEB2_ENST00000409487.3_Silent_p.N100N|ZEB2_ENST00000303660.4_Silent_p.N100N|ZEB2_ENST00000539609.3_Silent_p.N100N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	100						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTAGAATCTCGTTGTTGTGCC	0.488													10	49					0	0	0	0	A	145187367	G	A	145187367	2	1	472	1	0	0	0	0	0	0	0	1	17719	1136	40	1		1	ZEB2	2	145187367	Silent	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	7314521	145187367	98012006	8	91213											
MYO3B	140469	broad.mit.edu	37	chr2	171248916	171248916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagctgatgaaactggaaggGtgatgcacgacataacttcc	13	9	11	8	1	0	3	0	3	0	0	1	5	1	4	1	2	4	2	1	2	4	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:171248916G>A	ENST00000334231.6	+	16	1729	c.1729G>A	c.(1729-1731)Gtg>Atg	p.V577M	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.V568M|MYO3B_ENST00000409044.3_Missense_Mutation_p.V568M			Q8WXR4	MYO3B_HUMAN	myosin IIIB	568	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AACTGGAAGGGTGATGCACGA	0.408													13	59					0	0	0	0	A	171248916	G	A	171248916	3	1	472	1	0	0	0	0	1	0	0	0	10147	1261	44	4	1764	4	MYO3B	2	171248916	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	26061549	171248916	71950457	9	91214											
SATB2	23314	broad.mit.edu	37	chr2	200137348	200137348	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggaggcgcttcttctctGggaggggaactctccttggc	4	10	17	10	1	3	0	0	0	3	0	5	3	3	3	1	7	1	1	1	7	1	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:200137348G>T	ENST00000443023.1	-	10	3076	c.1611C>A	c.(1609-1611)ccC>ccA	p.P537P	SATB2_ENST00000417098.1_Silent_p.P596P|SATB2_ENST00000457245.1_Silent_p.P596P|SATB2_ENST00000428695.1_Silent_p.P478P|SATB2_ENST00000260926.5_Silent_p.P596P			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	596						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCTTCTCTGGGAGGGGAAC	0.507													17	95					6.33239e-15	7.13508e-15	1	0	T	200137348	G	T	200137348	2	4	472	1	0	0	0	0	0	0	0	1	13940	1335	47	4		4	SATB2	2	200137348	Silent	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	28888432	200137348	43062025	10	91215											
CHPF	79586	broad.mit.edu	37	chr2	220404590	220404590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagcaccgtgtctggccCggccagcaggaacagtgtgt	7	7	15	12	3	1	1	0	1	1	0	1	2	1	2	3	3	3	2	3	3	1	0			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220404590C>T	ENST00000243776.6	-	4	2091	c.1843G>A	c.(1843-1845)Ggg>Agg	p.G615R	CHPF_ENST00000535926.1_Missense_Mutation_p.G453R	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	615						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GTGTCTGGCCCGGCCAGCAGG	0.617													19	226					0	0	0	0	T	220404590	C	T	220404590	3	4	472	1	0	0	0	0	1	0	0	0	3397	652	23	1	488	1	CHPF	2	220404590	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	20267242	220404590	22794783	11	91216											
INHA	3623	broad.mit.edu	37	chr2	220439713	220439713	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctctgctctctctctgcTgacccaccccgtcctggtgc	3	11	7	20	1	3	1	0	1	3	0	6	1	4	1	5	1	3	2	5	1	0	0			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220439713T>G	ENST00000243786.2	+	2	746	c.566T>G	c.(565-567)cTg>cGg	p.L189R	INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	189					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTCTCTCTGCTGACCCACCCC	0.682													14	137					0	0	0	0	G	220439713	T	G	220439713	3	3	472	1	0	0	0	0	1	0	0	0	7793	1580	55	5	572	5	INHA	2	220439713	Missense_Mutation	SNP	T	TCGA-QK-A652-01A-11D-A30E-08	35123	220439713	22759660	12	91217											
SLC4A3	6508	broad.mit.edu	37	chr2	220502432	220502432	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccccagcccgaggaacCagcccaatacggcactgctc	9	3	9	20	2	0	0	0	0	0	0	1	2	0	1	6	2	5	2	6	2	3	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220502432C>T	ENST00000358055.3	+	17	3177	c.2665C>T	c.(2665-2667)Cag>Tag	p.Q889*	SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.Q916*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.Q889*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.Q889*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.Q916*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	889	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGAGGAACCAGCCCAATAC	0.652													13	92					0	0	0	0	T	220502432	C	T	220502432	4	4	472	1	0	0	0	0	0	1	0	0	14743	595	21	4	2808	4	SLC4A3	2	220502432	Nonsense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	62719	220502432	22696941	13	91218											
HTR2B	3357	broad.mit.edu	37	chr2	231973926	231973927	+	Frame_Shift_Del	DEL	CT	CT	-																															ttgaggtggcttgtttttgaCtaagtaagccttcttctgta																										TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:231973926_231973927delCT	ENST00000258400.3	-	4	1262_1263	c.750_751delAG	c.(748-753)tttcfs	p.LV250fs	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	250					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TTGTTTTTGACTAAGTAAGCCT	0.45													10	79	---	---	---	---					-	231973927	CT	-	231973926	7	5	472	1	0	1	0	1	0	0	0	0	7495	565	20	0	698	0	HTR2B	2	231973926	Frame_Shift_Del	DEL	CT	TCGA-QK-A652-01A-11D-A30E-08	11471494	231973926	11225447	14	91219											
TATDN2	9797	broad.mit.edu	37	chr3	10312110	10312110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagagcagccggagccGcatgagtgattattccccca	10	7	13	11	2	0	3	0	2	0	1	1	5	1	5	4	2	3	2	4	2	2	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:10312110G>A	ENST00000287652.4	+	4	2295	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	415						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.R415H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCCGGAGCCGCATGAGTGAT	0.567													4	134					0	0	0	0	A	10312110	G	A	10312110	3	1	472	1	0	0	0	0	1	0	0	0	15683	1087	38	1	1254	1	TATDN2	3	10312110	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		10312110	187710320	15	91220											
TIGIT	201633	broad.mit.edu	37	chr3	114018536	114018536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtcatcgtggtggtcGcgttgactagaaaggtaatg	10	10	14	7	3	1	2	1	1	0	1	3	2	1	2	0	3	1	3	0	3	3	3	rs147577671	byFrequency	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:114018536G>A	ENST00000481065.1	+	4	3300	c.685G>A	c.(685-687)Gcg>Acg	p.A229T	TIGIT_ENST00000486257.1_Missense_Mutation_p.A162T|TIGIT_ENST00000383671.3_Missense_Mutation_p.A162T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	162					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CGTGGTGGTCGCGTTGACTAG	0.607													22	29					0	0	0	0	A	114018536	G	A	114018536	3	1	472	1	0	0	0	0	1	0	0	0	15996	1087	38	1	494	1	TIGIT	3	114018536	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	103706426	114018536	84003894	16	91221											
WDR49	151790	broad.mit.edu	37	chr3	167240158	167240158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagaatgttctgttgggtCtaaacaagattcctccttag	11	14	9	7	0	2	2	0	0	2	2	4	3	4	2	2	1	1	2	2	1	6	6			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:167240158C>T	ENST00000308378.3	-	12	1968	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	WDR49_ENST00000453925.2_Missense_Mutation_p.D520N|WDR49_ENST00000476376.1_Missense_Mutation_p.D380N|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	555										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTGTTGGGTCTAAACAAGAT	0.308													7	37					0	0	0	0	T	167240158	C	T	167240158	3	4	472	1	0	0	0	0	1	0	0	0	17398	913	32	2	446	2	WDR49	3	167240158	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	53221622	167240158	30782272	17	91222											
FRAS1	80144	broad.mit.edu	37	chr4	79403045	79403045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgcggccctcagacccagCttctgccacaccaggagttg	9	6	10	16	2	2	1	1	0	1	1	2	2	2	2	4	2	3	2	4	2	1	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:79403045C>T	ENST00000264895.6	+	57	8971	c.8531C>T	c.(8530-8532)gCt>gTt	p.A2844V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2839	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAGACCCAGCTTCTGCCACA	0.522													26	147					0	0	0	0	T	79403045	C	T	79403045	3	4	472	1	0	0	0	0	1	0	0	0	6089	797	28	4	8832	4	FRAS1	4	79403045	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08		79403045	111751231	18	91223											
BMP3	651	broad.mit.edu	37	chr4	81967395	81967395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggaactgttcccaaatggGatagccacatcagagctgcc	11	8	10	12	0	1	1	1	0	0	1	2	3	2	3	3	2	4	2	3	2	3	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:81967395G>A	ENST00000282701.2	+	2	1140	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	274					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCCCAAATGGGATAGCCACAT	0.517													19	105					0	0	0	0	A	81967395	G	A	81967395	3	1	472	1	0	0	0	0	1	0	0	0	1466	1174	41	2	826	2	BMP3	4	81967395	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	2564350	81967395	109186881	19	91224											
FAT4	79633	broad.mit.edu	37	chr4	126400915	126400915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgccctaggctggaaggcGcttgtactcgcagcccatgc	7	8	13	13	2	0	0	0	0	0	0	1	2	0	1	2	3	4	4	2	3	3	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:126400915G>A	ENST00000394329.3	+	14	12506	c.12493G>A	c.(12493-12495)Gct>Act	p.A4165T	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4165	EGF-like 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGGAAGGCGCTTGTACTCG	0.418													5	21					0	0	0	0	A	126400915	G	A	126400915	3	1	472	1	0	0	0	0	1	0	0	0	5737	1087	38	1	12547	1	FAT4	4	126400915	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	44433520	126400915	64753361	20	91225											
PCDHA6	56142	broad.mit.edu	37	chr5	140209295	140209295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgagcgcgcgcgacgCgggcgtgccgcctctgggca	4	5	18	14	8	2	1	1	1	1	0	2	2	2	1	2	3	2	1	2	3	0	0			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:140209295C>T	ENST00000529310.1	+	1	1733	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGACGCGGGCGTGCCG	0.677													34	192					0	0	0	0	T	140209295	C	T	140209295	3	4	472	1	0	0	0	0	1	0	0	0	11599	768	27	1	1621	1	PCDHA6	5	140209295	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08		140209295	40705965	21	91226											
PCDHB12	56124	broad.mit.edu	37	chr5	140590457	140590457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaccgccacgctgcacGtgctcctggtggacggcttc	4	7	13	17	5	0	0	0	0	0	0	2	1	1	1	4	4	2	4	4	4	0	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:140590457G>A	ENST00000239450.2	+	1	2167	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V323M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		660	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			CACGCTGCACGTGCTCCTGGT	0.721													23	79					0	0	0	0	A	140590457	G	A	140590457	3	1	472	1	0	0	0	0	1	0	0	0	11608	1145	40	1	1980	1	PCDHB12	5	140590457	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	381162	140590457	40324803	22	91227											
ZFP2	80108	broad.mit.edu	37	chr5	178359524	178359524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattgaacatcaaagaattCatactggtgagaaaccctat	16	12	6	7	0	2	3	2	2	0	2	2	4	2	3	1	1	3	0	1	1	7	5			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:178359524C>T	ENST00000361362.2	+	5	1740	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	ZFP2_ENST00000520301.1_Missense_Mutation_p.H404Y|ZFP2_ENST00000523286.1_Missense_Mutation_p.H404Y|ZFP2_ENST00000503510.2_Missense_Mutation_p.H404Y	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCAAAGAATTCATACTGGTGA	0.418													11	41					0	0	0	0	T	178359524	C	T	178359524	3	4	472	1	0	0	0	0	1	0	0	0	17736	826	29	2	1212	2	ZFP2	5	178359524	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	37769067	178359524	2555736	23	91228											
ARID1B	57492	broad.mit.edu	37	chr6	157488283	157488283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacacgcaggcgccgcccTacagcatggcgcccgccatg	8	4	12	17	5	0	1	0	1	0	0	0	1	0	1	4	2	3	2	4	2	2	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr6:157488283T>C	ENST00000346085.5	+	10	2990	c.2989T>C	c.(2989-2991)Tac>Cac	p.Y997H	ARID1B_ENST00000350026.5_Missense_Mutation_p.Y984H|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y984H|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y926H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	984					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCGCCGCCCTACAGCATGGC	0.612													20	120					0	0	0	0	C	157488283	T	C	157488283	3	2	472	1	0	0	0	0	1	0	0	0	916	1522	53	5	3027	5	ARID1B	6	157488283	Missense_Mutation	SNP	T	TCGA-QK-A652-01A-11D-A30E-08		157488283	13626784	24	91229											
TYW1	55253	broad.mit.edu	37	chr7	66548449	66548449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgggcactgagtggcGgtggaagatggaccagcctg	7	6	17	11	2	0	2	0	1	0	1	0	4	0	4	4	5	1	1	4	5	1	0			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr7:66548449G>A	ENST00000359626.5	+	11	1471	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	436					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACTGAGTGGCGGTGGAAGATG	0.433													3	50					0	0	0	0	A	66548449	G	A	66548449	3	1	472	1	0	0	0	0	1	0	0	0	16914	1116	39	1	1349	1	TYW1	7	66548449	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		66548449	92590214	25	91230											
CDKN2A	1029	broad.mit.edu	37	chr9	21971153	21971153	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtcggcgcagttgggctCcgcgccgtggagcagcagca	5	5	19	12	5	0	0	0	0	0	0	2	1	1	1	2	5	3	6	2	5	0	1	rs121913383		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:21971153C>A	ENST00000304494.5	-	2	475	c.205G>T	c.(205-207)Gag>Tag	p.E69*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E18*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G83V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G83V|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G124V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69			E -> G (found in some patients with melanoma; partial loss of CDK4 binding).|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E69*(16)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E69K(1)|p.E61_L94del(1)|p.0(1)|p.E69fs*77(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.L64_E69>Q(1)|p.E69Q(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTTGGGCTCCGCGCCGTGG	0.711	E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	11					0.0215528	0.0218256	1	0	A	21971153	C	A	21971153	4	1	472	1	0	0	0	0	0	1	0	0	3190	864	30	2	273	2	CDKN2A	9	21971153	Nonsense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08		21971153	119242278	26	91231											
VPS13A	23230	broad.mit.edu	37	chr9	79841447	79841447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagaggataataaagggtgGtttagctggctatggtcttg	10	12	14	5	0	1	1	0	0	1	1	1	2	1	2	1	5	1	3	1	5	5	6			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:79841447G>T	ENST00000360280.3	+	15	1550	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	VPS13A_ENST00000357409.5_Missense_Mutation_p.W430C|VPS13A_ENST00000376636.3_Missense_Mutation_p.W430C|VPS13A_ENST00000376634.4_Missense_Mutation_p.W430C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	430					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATAAAGGGTGGTTTAGCTGGC	0.323													18	56					9.16793e-09	1.0047e-08	1	0	T	79841447	G	T	79841447	3	4	472	1	0	0	0	0	1	0	0	0	17285	1270	44	4	1348	4	VPS13A	9	79841447	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	57870294	79841447	61371984	27	91232											
INVS	27130	broad.mit.edu	37	chr9	102866838	102866838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacctgctgtttgctggttCatcattagcatcacaagtcc	9	13	8	11	0	3	0	3	0	0	0	4	1	4	0	2	1	4	5	2	1	3	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:102866838C>T	ENST00000262457.2	+	2	220	c.35C>T	c.(34-36)tCa>tTa	p.S12L	INVS_ENST00000460636.2_3'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.S12L|INVS_ENST00000374921.3_Missense_Mutation_p.S12L|INVS_ENST00000541287.1_5'UTR	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	12					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTTGCTGGTTCATCATTAGCA	0.453													6	36					0	0	0	0	T	102866838	C	T	102866838	3	4	472	1	0	0	0	0	1	0	0	0	7840	838	29	2	37	2	INVS	9	102866838	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	23025391	102866838	38346593	28	91233											
NOTCH1	4851	broad.mit.edu	37	chr9	139409770	139409770	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggctcacaggcacactcGtagccatcgatcttgtccag	8	8	9	16	3	2	0	1	0	1	0	5	1	3	0	3	2	1	3	3	2	1	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:139409770G>C	ENST00000277541.6	-	12	2061	c.1986C>G	c.(1984-1986)taC>taG	p.Y662*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	662	EGF-like 17; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCACACTCGTAGCCATCGA	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			22	65					0	0	0	0	C	139409770	G	C	139409770	4	2	472	1	0	0	0	0	0	1	0	0	10617	1140	40	3	5773	3	NOTCH1	9	139409770	Nonsense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	36542932	139409770	1803661	29	91234											
ELOVL3	83401	broad.mit.edu	37	chr10	103987462	103987462	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgaaggaacgcaagggcTtcaacctgcaagggcctctc	12	6	11	12	1	2	1	1	1	1	0	3	2	2	2	2	3	3	3	2	3	5	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr10:103987462T>A	ENST00000370005.3	+	2	402	c.181T>A	c.(181-183)Ttc>Atc	p.F61I		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	61					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACGCAAGGGCTTCAACCTGCA	0.552													23	114					0	0	0	0	A	103987462	T	A	103987462	3	1	472	1	0	0	0	0	1	0	0	0	5113	1609	56	5	187	5	ELOVL3	10	103987462	Missense_Mutation	SNP	T	TCGA-QK-A652-01A-11D-A30E-08		103987462	31547285	30	91235											
DCDC1	341019	broad.mit.edu	37	chr11	31125264	31125264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgatatcacctctggCaaatgcactcactcggtcaa	13	9	6	13	1	4	1	3	1	1	0	5	1	4	1	2	2	2	2	2	2	4	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr11:31125264C>A	ENST00000597505.1	-	12	1803	c.1804G>T	c.(1804-1806)Gcc>Tcc	p.A602S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCACCTCTGGCAAATGCACTC	0.368													13	68					2.32078e-09	2.57865e-09	1	0	A	31125264	C	A	31125264	3	1	472	1	0	0	0	0	1	0	0	0	4316	725	25	4		4	DCDC1	11	31125264	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08		31125264	103881252	31	91236											
KRT84	3890	broad.mit.edu	37	chr12	52774199	52774199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgatctcgatgtccaGgcccagcttggcattcatca	7	10	12	12	2	3	0	2	0	1	0	5	2	4	0	2	4	1	2	2	4	0	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:52774199G>C	ENST00000257951.3	-	7	1438	c.1372C>G	c.(1372-1374)Ctg>Gtg	p.L458V		NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	458	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGATGTCCAGGCCCAGCTTG	0.607											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	61					0	0	0	0	C	52774199	G	C	52774199	3	2	472	1	0	0	0	0	1	0	0	0	8550	991	35	4	442	4	KRT84	12	52774199	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		52774199	81077696	32	91237											
LIN7A	8825	broad.mit.edu	37	chr12	81205334	81205334	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgacgcctggctgtTcgtagcttttcaaagcgagc	6	11	12	12	4	1	0	1	0	0	0	2	2	1	0	2	1	5	5	2	1	2	4			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:81205334T>C	ENST00000552864.1	-	5	814	c.612A>G	c.(610-612)cgA>cgG	p.R204R		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	204					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCCTGGCTGTTCGTAGCTTTT	0.502													6	20					0	0	0	0	C	81205334	T	C	81205334	2	2	472	1	0	0	0	0	0	0	0	1	8865	1770	62	5		5	LIN7A	12	81205334	Silent	SNP	T	TCGA-QK-A652-01A-11D-A30E-08	28431135	81205334	52646561	33	91238											
WSB2	55884	broad.mit.edu	37	chr12	118480755	118480755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgacatcttggtggccGgaaagattcaaaagcaggag	13	7	12	9	2	3	1	2	0	1	1	3	4	3	3	1	4	1	1	1	4	3	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:118480755G>A	ENST00000315436.3	-	4	591	c.450C>T	c.(448-450)tcC>tcT	p.S150S	WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000535496.1_Silent_p.S152S|WSB2_ENST00000441406.2_Silent_p.S167S	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	150					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGGTGGCCGGAAAGATTCA	0.592													4	132					0	0	0	0	A	118480755	G	A	118480755	2	1	472	1	0	0	0	0	0	0	0	1	17501	1103	39	1		1	WSB2	12	118480755	Silent	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	37275421	118480755	15371140	34	91239											
MDGA2	161357	broad.mit.edu	37	chr14	47530617	47530617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctgtgtaatgaccatccGctcagaacttcttaatggac	11	12	8	10	1	3	2	1	1	2	1	4	3	4	3	2	1	1	2	2	1	3	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr14:47530617G>A	ENST00000426342.1	-	7	1212	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	MDGA2_ENST00000357362.3_Missense_Mutation_p.R156W|MDGA2_ENST00000399232.2_Missense_Mutation_p.R454W|MDGA2_ENST00000439988.2_Missense_Mutation_p.R385W	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATGACCATCCGCTCAGAACTT	0.418													17	127					0	0	0	0	A	47530617	G	A	47530617	3	1	472	1	0	0	0	0	1	0	0	0	9476	1086	38	1	1761	1	MDGA2	14	47530617	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		47530617	59818923	35	91240											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499196	59499196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtgagctcggtgggagcGaatttcctatgcctggggat	8	10	16	7	2	0	2	0	1	0	1	2	5	1	4	2	4	3	1	2	4	2	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr15:59499196G>A	ENST00000307144.4	+	1	155	c.57G>A	c.(55-57)gcG>gcA	p.A19A	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	19					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CGGTGGGAGCGAATTTCCTAT	0.592													7	49					0	0	0	0	A	59499196	G	A	59499196	2	1	472	1	0	0	0	0	0	0	0	1	8753	1045	37	1		1	LDHAL6B	15	59499196	Silent	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		59499196	43032196	36	91241											
C16orf78	123970	broad.mit.edu	37	chr16	49430502	49430502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgacatggcttacgaacGcaagctaaagagcctcatgg	12	7	11	11	2	1	2	1	1	0	1	1	3	1	2	2	2	4	3	2	2	5	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:49430502G>A	ENST00000299191.3	+	4	680	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	188										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GCTTACGAACGCAAGCTAAAG	0.502													18	46					0	0	0	0	A	49430502	G	A	49430502	3	1	472	1	0	0	0	0	1	0	0	0	1848	1087	38	1	577	1	C16orf78	16	49430502	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		49430502	40924251	37	91242											
ADCY7	113	broad.mit.edu	37	chr16	50338857	50338857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttccccagcgccaccgcCggaccccagacaggtgcgtg	6	4	13	18	5	0	1	0	0	0	1	1	2	1	2	7	2	2	1	7	2	0	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:50338857C>T	ENST00000394697.2	+	12	1922	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	ADCY7_ENST00000566433.2_Missense_Mutation_p.R528W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R528W|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.R528W			P51828	ADCY7_HUMAN	adenylate cyclase 7	528					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGCCACCGCCGGACCCCAGA	0.657													6	89					0	0	0	0	T	50338857	C	T	50338857	3	4	472	1	0	0	0	0	1	0	0	0	299	643	23	1	1624	1	ADCY7	16	50338857	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	908355	50338857	40015896	38	91243											
ELMO3	79767	broad.mit.edu	37	chr16	67236795	67236795	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtgacacccctctatcagGgagctgcgggagaagctgaa	11	6	13	11	1	2	3	1	2	1	1	2	5	2	4	2	2	3	2	2	2	3	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:67236795G>T	ENST00000393997.2	+	16	1779	c.1721_splice	c.e16-1	p.L574_splice	ELMO3_ENST00000360833.1_Splice_Site_p.L557_splice|ELMO3_ENST00000477898.1_Splice_Site_p.L408_splice	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	521	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCTCTATCAGGGAGCTGCGGG	0.627													9	54					0.000442599	0.000472106	1	0	T	67236795	G	T	67236795	5	4	472	1	0	0	0	0	0	0	1	0	5105	1246	43	4	1784	4	ELMO3	16	67236795	Splice_Site	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	16897938	67236795	23117958	39	91244											
CHST6	4166	broad.mit.edu	37	chr16	75512584	75512584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgcccaagtgaagccGttcaggcctcgtggcagcac	9	7	13	12	2	1	2	1	2	0	0	2	3	1	2	3	2	3	3	3	2	2	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:75512584G>A	ENST00000332272.4	-	3	1322	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.N381N	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	381					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGTGAAGCCGTTCAGGCCTC	0.637													4	89					0	0	0	0	A	75512584	G	A	75512584	2	1	472	1	0	0	0	0	0	0	0	1	3437	1136	40	1		1	CHST6	16	75512584	Silent	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	8275789	75512584	14842169	40	91245											
ZNF594	84622	broad.mit.edu	37	chr17	5086093	5086093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattcagtgcactgataggGcttctctccagtatggattt	9	14	9	9	0	2	1	1	1	1	0	4	2	3	2	1	2	1	3	1	2	2	5			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:5086093G>T	ENST00000399604.4	-	1	1599	c.1459C>A	c.(1459-1461)Ccc>Acc	p.P487T	ZNF594_ENST00000575779.1_Missense_Mutation_p.P487T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACTGATAGGGCTTCTCTCCA	0.453													13	63					0.000151284	0.000163551	1	0	T	5086093	G	T	5086093	3	4	472	1	0	0	0	0	1	0	0	0	18119	1203	42	4	968	4	ZNF594	17	5086093	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		5086093	76109117	41	91246											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T																															tgatggtgaggatgggcctcCggttcatgccgcccatgcag																								rs11540652		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			7	53					0	0	0	0	T	7577538	C	T	7577538	3	4	472	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	2491445	7577538	73617672	42	91247	1119	2									
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T																															gatgggcctccggttcatgcCgcccatgcaggaactgttac																								rs28934575		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			9	49					0	0	0	0	T	7577548	C	T	7577548	3	4	472	1	0	0	0	0	1	0	0	0	16476	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	10	7577548	73617662	43	91248	1119	2									
PHF12	57649	broad.mit.edu	37	chr17	27239675	27239675	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttctttgcaaagtgctGgtgttctcgatgctggcaca	6	15	11	9	1	3	0	0	0	3	0	4	1	3	0	0	2	3	5	0	2	1	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:27239675G>C	ENST00000577226.1	-	9	2260	c.1914C>G	c.(1912-1914)acC>acG	p.T638T	PHF12_ENST00000332830.4_Silent_p.T638T|PHF12_ENST00000268756.3_Silent_p.T638T|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	638	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCAAAGTGCTGGTGTTCTCGA	0.577													27	92					0	0	0	0	C	27239675	G	C	27239675	2	2	472	1	0	0	0	0	0	0	0	1	11895	1335	47	4		4	PHF12	17	27239675	Silent	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	19662127	27239675	53955535	44	91249											
BCAS3	54828	broad.mit.edu	37	chr17	59465981	59465981	+	Frame_Shift_Del	DEL	A	A	-																															tgcttttcttttcaaaagggAaaaaaaaaggaaaaaaaaaa																										TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:59465981delA	ENST00000589222.1	+	25	2730	c.2662delA	c.(2662-2664)aafs	p.K890fs	BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588462.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCAAAAGGGAAAAAAAAAGG	0.443													2	4	---	---	---	---					-	59465981	A	-	59465981	7	5	472	1	0	1	0	1	0	0	0	0	1356	261	9	0		0	BCAS3	17	59465981	Frame_Shift_Del	DEL	A	TCGA-QK-A652-01A-11D-A30E-08	32226306	59465981	21729229	45	91250											
TMC8	147138	broad.mit.edu	37	chr17	76137079	76137079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgggccaccaggccccGcggccgggcccctccgtcgt	2	4	13	22	6	0	0	0	0	0	0	3	0	2	0	10	4	0	0	10	4	0	0			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:76137079G>A	ENST00000318430.5	+	16	2441	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	TMC8_ENST00000589691.1_Silent_p.P466P|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	689						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACCAGGCCCCGCGGCCGGGCC	0.751													3	15					0	0	0	0	A	76137079	G	A	76137079	2	1	472	1	0	0	0	0	0	0	0	1	16085	1074	38	1		1	TMC8	17	76137079	Silent	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	16671098	76137079	5058131	46	91251											
ZNF236	7776	broad.mit.edu	37	chr18	74639389	74639389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccatctcaggcctgTccttacagcccacagtgacc	8	8	7	18	0	1	1	1	1	1	0	4	1	3	1	6	1	3	0	6	1	1	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr18:74639389T>C	ENST00000253159.8	+	24	4522	c.4324T>C	c.(4324-4326)Tcc>Ccc	p.S1442P	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1444P	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1442					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCAGGCCTGTCCTTACAGCC	0.602													11	42					0	0	0	0	C	74639389	T	C	74639389	3	2	472	1	0	0	0	0	1	0	0	0	17884	1667	58	5	4418	5	ZNF236	18	74639389	Missense_Mutation	SNP	T	TCGA-QK-A652-01A-11D-A30E-08		74639389	3437859	47	91252											
ZNF536	9745	broad.mit.edu	37	chr19	30935349	30935349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggaccgccacatcCgcatcttgcacaagccctac	10	6	9	16	2	1	0	0	0	1	0	2	2	2	2	4	2	4	3	4	2	2	2			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr19:30935349C>T	ENST00000355537.3	+	2	1027	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCCACATCCGCATCTTGCA	0.642													10	119					0	0	0	0	T	30935349	C	T	30935349	3	4	472	1	0	0	0	0	1	0	0	0	18069	652	23	1	882	1	ZNF536	19	30935349	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08		30935349	28193634	48	91253											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572282	38572282	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagggtgggcgatgtccTccctgggccacacacagggg	6	5	16	14	2	0	0	0	0	0	0	2	1	2	0	4	5	0	0	4	5	0	0			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr19:38572282T>G	ENST00000222345.6	+	3	586	c.77T>G	c.(76-78)cTc>cGc	p.L26R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	26					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCGATGTCCTCCCTGGGCCA	0.677													5	48					0	0	0	0	G	38572282	T	G	38572282	3	3	472	1	0	0	0	0	1	0	0	0	14419	1551	54	5	79	5	SIPA1L3	19	38572282	Missense_Mutation	SNP	T	TCGA-QK-A652-01A-11D-A30E-08	7636933	38572282	20556701	49	91254											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													4	72					0	0	0	0	C	11058353	T	C	11058353	1	2	472	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-QK-A652-01A-11D-A30E-08		11058353	37071542	50	91255											
SON	6651	broad.mit.edu	37	chr21	34923429	34923429	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaacaggggtgctggAgttgccagggcagcctgggg	6	7	19	9	0	1	0	0	0	1	0	1	1	1	1	2	7	4	4	2	7	1	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:34923429A>T	ENST00000356577.4	+	3	2367	c.1892A>T	c.(1891-1893)gAg>gTg	p.E631V	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.E631V|SON_ENST00000290239.6_Missense_Mutation_p.E631V|SON_ENST00000300278.4_Missense_Mutation_p.E631V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	631					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGGGTGCTGGAGTTGCCAGGG	0.652													10	61					0	0	0	0	T	34923429	A	T	34923429	3	4	472	1	0	0	0	0	1	0	0	0	15014	304	11	5	1902	5	SON	21	34923429	Missense_Mutation	SNP	A	TCGA-QK-A652-01A-11D-A30E-08	23865076	34923429	13206466	51	91256											
PCP4	5121	broad.mit.edu	37	chr21	41300944	41300944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaagaagaatttgacattGacatggatgcaccagagaca	16	9	9	7	0	1	5	1	2	0	3	1	7	1	6	1	1	1	1	1	1	3	3			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:41300944G>C	ENST00000328619.5	+	3	282	c.97G>C	c.(97-99)Gac>Cac	p.D33H	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	33					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				ATTTGACATTGACATGGATGC	0.463													15	76					0	0	0	0	C	41300944	G	C	41300944	3	2	472	1	0	0	0	0	1	0	0	0	11669	1290	45	2	107	2	PCP4	21	41300944	Missense_Mutation	SNP	G	TCGA-QK-A652-01A-11D-A30E-08	6377515	41300944	6828951	52	91257											
CSF2RB	1439	broad.mit.edu	37	chr22	37328806	37328806	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcttccctccctccaGtccagatggcccctccatcc	7	9	6	19	0	0	2	0	1	0	1	6	2	6	2	8	1	1	1	8	1	1	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr22:37328806G>A	ENST00000262825.5	+	9	1247		c.e9-1		CSF2RB_ENST00000406230.1_Splice_Site|CSF2RB_ENST00000403662.3_Splice_Site|CSF2RB_ENST00000536485.1_Splice_Site	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)						respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCTCCCTCCAGTCCAGATGGC	0.552													6	34					0	0	0	0	A	37328806	G	A	37328806	5	1	472	1	0	0	0	0	0	0	1	0	3967	1043	36	4	1042	4	CSF2RB	22	37328806	Splice_Site	SNP	G	TCGA-QK-A652-01A-11D-A30E-08		37328806	13975760	53	91258											
HUWE1	10075	broad.mit.edu	37	chrX	53563190	53563190	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggtagaagtggtaaTcttcactctccatatctgta	10	14	8	9	0	4	1	1	0	3	1	5	2	4	1	2	2	0	3	2	2	5	6			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:53563190T>A	ENST00000342160.3	-	79	12906	c.12449A>T	c.(12448-12450)gAt>gTt	p.D4150V	HUWE1_ENST00000262854.6_Missense_Mutation_p.D4150V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4150	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGTGGTAATCTTCACTCTC	0.448													12	24					0	0	0	0	A	53563190	T	A	53563190	3	1	472	1	0	0	0	0	1	0	0	0	7514	1435	50	5	695	5	HUWE1	23	53563190	Missense_Mutation	SNP	T	TCGA-QK-A652-01A-11D-A30E-08		53563190	101707370	54	91259											
ZNF275	10838	broad.mit.edu	37	chrX	152621392	152621392	+	RNA	DEL	G	G	-																															gctggggaactggtgcacttGgaggattctgcagctcatgc																										TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:152621392delG	ENST00000438239.1	+	0	113																											TGGTGCACTTGGAGGATTCTG	0.602													2	4	---	---	---	---					-	152621392	G	-	152621392	6	5	472	0	1	1	0	1	0	0	0	0	17905	1363	47	0		0	ZNF275	23	152621392	RNA	DEL	G	TCGA-QK-A652-01A-11D-A30E-08	99058202	152621392	2649168	55	91260											
ATP2B3	492	broad.mit.edu	37	chrX	152807232	152807232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgtggtgctggtcaCggccttcaatgactggagca	7	11	13	10	1	3	1	2	1	1	0	3	2	3	2	1	4	2	2	1	4	1	1			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:152807232C>T	ENST00000370186.1	+	4	838	c.512C>T	c.(511-513)aCg>aTg	p.T171M	ATP2B3_ENST00000263519.4_Missense_Mutation_p.T171M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T171M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.T171M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T171M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T171M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	171					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGTCACGGCCTTCAAT	0.617													34	64					0	0	0	0	T	152807232	C	T	152807232	3	4	472	1	0	0	0	0	1	0	0	0	1145	536	19	1	522	1	ATP2B3	23	152807232	Missense_Mutation	SNP	C	TCGA-QK-A652-01A-11D-A30E-08	185840	152807232	2463328	56	91261											
AJAP1	55966	broad.mit.edu	37	chr1	4829945	4829945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagatcatcaccatcaccGtctccctcatcatggtcata	11	11	4	15	1	8	1	7	0	1	1	9	1	8	1	3	1	0	0	3	1	1	1			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:4829945G>A	ENST00000378191.4	+	3	1243	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	AJAP1_ENST00000378190.3_Missense_Mutation_p.V288I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	288					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CACCATCACCGTCTCCCTCAT	0.547													5	154					0	0	0	0	A	4829945	G	A	4829945	3	1	473	1	0	0	0	0	1	0	0	0	438	1145	40	1	872	1	AJAP1	1	4829945	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08		4829945	244420676	1	91262											
KPNA6	23633	broad.mit.edu	37	chr1	32625009	32625009	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactttcagtttgaagcTgcctgggctctaacgaatat	9	14	8	10	1	3	1	2	1	2	0	4	2	3	1	1	1	3	3	1	1	4	4			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:32625009T>G	ENST00000373625.3	+	6	528	c.435T>G	c.(433-435)gcT>gcG	p.A145A	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Silent_p.A150A|KPNA6_ENST00000537234.1_Silent_p.A142A	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	145					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGTTTGAAGCTGCCTGGGCTC	0.463													29	51					0	0	0	0	G	32625009	T	G	32625009	2	3	473	1	0	0	0	0	0	0	0	1	8486	1567	55	5		5	KPNA6	1	32625009	Silent	SNP	T	TCGA-QK-A6IF-01A-11D-A31L-08	27795064	32625009	216625612	2	91263											
FLG	2312	broad.mit.edu	37	chr1	152282739	152282739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatttcttgtttgcctGcttgcacttctgggtcctga	3	18	8	12	0	3	1	1	1	2	0	5	1	5	1	3	1	3	3	3	1	0	5			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:152282739G>A	ENST00000368799.1	-	3	4658	c.4623C>T	c.(4621-4623)agC>agT	p.S1541S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1541	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTTGCCTGCTTGCACTTC	0.572									Ichthyosis				37	344					0	0	0	0	A	152282739	G	A	152282739	2	1	473	1	0	0	0	0	0	0	0	1	5967	1310	46	4		4	FLG	1	152282739	Silent	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	119657730	152282739	96967882	3	91264											
HMCN1	83872	broad.mit.edu	37	chr1	186135336	186135336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggatgaatgtgcagcaGggaatccctgctcccatagc	11	8	12	10	0	0	2	0	2	0	0	2	4	2	4	2	2	4	3	2	2	3	1			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:186135336G>A	ENST00000271588.4	+	99	15569	c.15340G>A	c.(15340-15342)Ggg>Agg	p.G5114R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5114R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5114	EGF-like 1; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGTGCAGCAGGGAATCCCTG	0.443													9	30					0	0	0	0	A	186135336	G	A	186135336	3	1	473	1	0	0	0	0	1	0	0	0	7270	1000	35	4	15734	4	HMCN1	1	186135336	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	33852597	186135336	63115285	4	91265											
ACTN2	88	broad.mit.edu	37	chr1	236882250	236882250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccacaaaattgctaatGtcaacaaagctttggattac	14	12	7	8	0	1	0	1	0	0	0	2	1	2	1	1	2	4	3	1	2	6	5			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:236882250G>A	ENST00000366578.4	+	3	464	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	ACTN2_ENST00000542672.1_Missense_Mutation_p.V100I|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	100	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AATTGCTAATGTCAACAAAGC	0.502													20	40					0	0	0	0	A	236882250	G	A	236882250	3	1	473	1	0	0	0	0	1	0	0	0	205	1377	48	4	308	4	ACTN2	1	236882250	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	50746914	236882250	12368371	5	91266											
NPAS2	4862	broad.mit.edu	37	chr2	101591395	101591395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctcgcacacagccatgtCagaacccacctgtgagtgcg	10	7	9	15	2	1	2	1	1	0	1	3	2	2	2	4	0	3	1	4	0	1	0			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:101591395C>T	ENST00000335681.5	+	13	1556	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.S489L|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	424					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGCCATGTCAGAACCCACC	0.577													26	5					0	0	0	0	T	101591395	C	T	101591395	3	4	473	1	0	0	0	0	1	0	0	0	10633	838	29	2	1317	2	NPAS2	2	101591395	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08		101591395	141607978	6	91267											
OSBPL6	114880	broad.mit.edu	37	chr2	179238641	179238641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagcaaatccatgtcagtCtccccttatcacagcaagta	12	10	7	12	0	3	1	2	1	1	0	5	1	4	1	3	0	2	3	3	0	4	2			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:179238641C>T	ENST00000190611.4	+	15	1796	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	OSBPL6_ENST00000315022.2_Missense_Mutation_p.L478F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L443F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L499F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L438F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L438F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.L407F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	474					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCATGTCAGTCTCCCCTTATC	0.463													3	32					0	0	0	0	T	179238641	C	T	179238641	3	4	473	1	0	0	0	0	1	0	0	0	11352	913	32	2	1592	2	OSBPL6	2	179238641	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08	77647246	179238641	63960732	7	91268											
CDK15	65061	broad.mit.edu	37	chr2	202687545	202687545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctagcttctctcctgaaGggtttgaaacatgccaatat	10	15	7	9	0	2	2	0	2	2	0	4	2	3	2	2	1	3	2	2	1	5	5			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:202687545G>A	ENST00000450471.2	+	5	548	c.462G>A	c.(460-462)aaG>aaA	p.K154K	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Silent_p.K154K|CDK15_ENST00000410091.3_Silent_p.K103K|CDK15_ENST00000374598.4_Silent_p.K154K|CDK15_ENST00000260967.2_Silent_p.K103K	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	154	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CTCTCCTGAAGGGTTTGAAAC	0.348													33	28					0	0	0	0	A	202687545	G	A	202687545	2	1	473	1	0	0	0	0	0	0	0	1	3160	991	35	4		4	CDK15	2	202687545	Silent	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	23448904	202687545	40511828	8	91269											
RAB17	64284	broad.mit.edu	37	chr2	238483701	238483701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcctcgcgggccccttGttcagagccacagctgcatc	5	8	11	17	2	1	1	1	0	0	1	3	1	1	1	5	1	4	3	5	1	0	2			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:238483701G>T	ENST00000264601.3	-	6	1229	c.600C>A	c.(598-600)aaC>aaA	p.N200K	RAB17_ENST00000538644.1_Missense_Mutation_p.N73K|RAB17_ENST00000409822.1_Missense_Mutation_p.N73K|RAB17_ENST00000409576.1_Intron	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	200					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		CGGGCCCCTTGTTCAGAGCCA	0.657													22	16					1.03073e-24	1.07758e-24	1	0	T	238483701	G	T	238483701	3	4	473	1	0	0	0	0	1	0	0	0	12984	1368	48	4	42	4	RAB17	2	238483701	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	35796156	238483701	4715672	9	91270											
FBXW12	285231	broad.mit.edu	37	chr3	48415175	48415175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagccgcataactttatctAcaaagtaactaagaacatcg	17	9	5	10	2	1	1	0	0	1	1	2	1	1	1	1	0	5	2	1	0	7	6			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr3:48415175A>G	ENST00000296438.5	+	4	452	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	FBXW12_ENST00000445170.1_Missense_Mutation_p.Y70C|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.Y89C	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	89										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACTTTATCTACAAAGTAACT	0.448													18	36					0	0	0	0	G	48415175	A	G	48415175	3	3	473	1	0	0	0	0	1	0	0	0	5810	391	14	5	313	5	FBXW12	3	48415175	Missense_Mutation	SNP	A	TCGA-QK-A6IF-01A-11D-A31L-08		48415175	149607255	10	91271											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527080	64527080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtcagagtgcatccccGcacagaatatctgaaagacc	12	7	11	11	1	2	4	1	1	1	3	3	4	3	4	3	2	1	2	3	2	3	1			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr3:64527080G>A	ENST00000498707.1	-	35	5645	c.5303C>T	c.(5302-5304)gCg>gTg	p.A1768V	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1740V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1768	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGCATCCCCGCACAGAATAT	0.463													4	114					0	0	0	0	A	64527080	G	A	64527080	3	1	473	1	0	0	0	0	1	0	0	0	273	1087	38	1	524	1	ADAMTS9	3	64527080	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	16111905	64527080	133495350	11	91272											
NMU	10874	broad.mit.edu	37	chr4	56473603	56473603	+	Splice_Site	DEL	C	C	-																															gatgtatgaaaatcatcttaCccttttagtattatcttttt																										TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr4:56473603delC	ENST00000264218.3	-	5	415		c.e5+1		NMU_ENST00000505262.1_Intron|NMU_ENST00000515325.1_Splice_Site|NMU_ENST00000511469.1_Splice_Site|NMU_ENST00000507338.1_Splice_Site	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U						neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		AATCATCTTACCCTTTTAGTA	0.204													2	4	---	---	---	---					-	56473603	C	-	56473603	8	5	473	1	0	1	0	1	0	0	1	0	10575	521	18	0	234	0	NMU	4	56473603	Splice_Site	DEL	C	TCGA-QK-A6IF-01A-11D-A31L-08		56473603	134680673	12	91273											
SEC24B	10427	broad.mit.edu	37	chr4	110451514	110451514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgaatgctgtagtggactCattgtctgcatatggctcaa	10	13	11	7	0	3	1	2	1	1	0	3	2	3	2	0	2	2	4	0	2	4	3			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr4:110451514C>T	ENST00000265175.5	+	19	3201	c.3146C>T	c.(3145-3147)tCa>tTa	p.S1049L	SEC24B_ENST00000504968.2_Missense_Mutation_p.S1079L|SEC24B_ENST00000399100.2_Missense_Mutation_p.S1014L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1049					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|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GTAGTGGACTCATTGTCTGCA	0.448													15	21					0	0	0	0	T	110451514	C	T	110451514	3	4	473	1	0	0	0	0	1	0	0	0	14082	838	29	2	3220	2	SEC24B	4	110451514	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08	53977911	110451514	80702762	13	91274											
HK3	3101	broad.mit.edu	37	chr5	176309093	176309093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcacgcccgccacattccGgagctcctccatgtagcagg	8	6	11	16	3	0	0	0	0	0	0	3	1	3	1	5	3	2	4	5	3	1	2	rs147409752	by1000genomes	TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr5:176309093G>A	ENST00000292432.5	-	16	2180	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	697	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACATTCCGGAGCTCCTCC	0.607													23	28					0	0	0	0	A	176309093	G	A	176309093	3	1	473	1	0	0	0	0	1	0	0	0	7242	1115	39	1	698	1	HK3	5	176309093	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08		176309093	4606167	14	91275											
HLA-A	3105	broad.mit.edu	37	chr6	29911150	29911150	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaaggattacatcgcccTgaacgaggacctgcgctctt	9	8	11	13	4	1	1	0	1	1	0	2	4	1	3	2	3	3	2	2	3	3	2			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr6:29911150T>A	ENST00000396634.1	+	5	790	c.449T>A	c.(448-450)cTg>cAg	p.L150Q	HLA-A_ENST00000376806.5_Missense_Mutation_p.L150Q|HLA-A_ENST00000376802.2_Missense_Mutation_p.L150Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.L150Q			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	150	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TACATCGCCCTGAACGAGGAC	0.647									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	11					0	0	0	0	A	29911150	T	A	29911150	3	1	473	1	0	0	0	0	1	0	0	0	7245	1580	55	5	459	5	HLA-A	6	29911150	Missense_Mutation	SNP	T	TCGA-QK-A6IF-01A-11D-A31L-08		29911150	141203917	15	91276											
EEF1A1	1915	broad.mit.edu	37	chr6	74228090	74228090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgttacctgagcagtgaagCcagctgcttccattggtggg	7	12	13	9	0	0	2	0	2	0	0	1	2	1	2	3	2	5	4	3	2	2	4			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr6:74228090C>T	ENST00000316292.9	-	5	2007	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.G339D|EEF1A1_ENST00000309268.6_Missense_Mutation_p.G339D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	339						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						AGCAGTGAAGCCAGCTGCTTC	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	53					0	0	0	0	T	74228090	C	T	74228090	3	4	473	1	0	0	0	0	1	0	0	0	4959	739	26	4	384	4	EEF1A1	6	74228090	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08	44316940	74228090	96886977	16	91277											
MUC17	140453	broad.mit.edu	37	chr7	100678383	100678383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatgcctgtcagacacaCgccagtggccagttctgagg	10	8	12	11	1	2	2	1	1	1	1	2	2	2	2	3	2	1	2	3	2	2	2			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr7:100678383C>T	ENST00000306151.4	+	3	3750	c.3686C>T	c.(3685-3687)aCg>aTg	p.T1229M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1229	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGACACACGCCAGTGGCC	0.522													109	287					0	0	0	0	T	100678383	C	T	100678383	3	4	473	1	0	0	0	0	1	0	0	0	10044	536	19	1	3696	1	MUC17	7	100678383	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08		100678383	58460280	17	91278											
NECAB1	64168	broad.mit.edu	37	chr8	91963412	91963412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaactccagaactcaCatctacaatgctagttcctg	12	11	6	12	0	2	1	1	0	1	1	4	2	4	2	2	1	4	2	2	1	5	4			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr8:91963412C>A	ENST00000417640.2	+	12	1347	c.1010C>A	c.(1009-1011)aCa>aAa	p.T337K	NECAB1_ENST00000522820.1_Missense_Mutation_p.T86K|NECAB1_ENST00000521366.1_Missense_Mutation_p.T86K	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	337					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.T337I(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCAGAACTCACATCTACAATG	0.343													14	28					8.60227e-14	8.79344e-14	1	0	A	91963412	C	A	91963412	3	1	473	1	0	0	0	0	1	0	0	0	10374	478	17	4	1056	4	NECAB1	8	91963412	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08		91963412	54400610	18	91279											
BICD2	23299	broad.mit.edu	37	chr9	95491374	95491374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgttggtgaggacattgcGcaactgcttcagctccgtct	6	12	12	11	3	2	1	1	1	1	0	3	2	3	2	1	2	4	4	1	2	1	3			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr9:95491374G>A	ENST00000356884.6	-	2	452	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	BICD2_ENST00000375512.3_Missense_Mutation_p.R129C	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	129					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGACATTGCGCAACTGCTTC	0.632													4	61					0	0	0	0	A	95491374	G	A	95491374	3	1	473	1	0	0	0	0	1	0	0	0	1434	1087	38	1	2216	1	BICD2	9	95491374	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08		95491374	45722057	19	91280											
ANKS6	203286	broad.mit.edu	37	chr9	101546340	101546340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagagccagctgccccGtaacagctgctagcatcagt	10	6	10	15	1	1	1	1	0	0	1	1	1	1	1	4	0	7	6	4	0	2	2			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr9:101546340G>A	ENST00000353234.4	-	4	1054	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	ANKS6_ENST00000375018.1_Missense_Mutation_p.T336M|ANKS6_ENST00000375019.2_Missense_Mutation_p.T35M|ANKS6_ENST00000540940.1_Missense_Mutation_p.T141M			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	336										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGCTGCCCCGTAACAGCTGC	0.607													22	43					0	0	0	0	A	101546340	G	A	101546340	3	1	473	1	0	0	0	0	1	0	0	0	691	1145	40	1	1656	1	ANKS6	9	101546340	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	6054966	101546340	39667091	20	91281											
ABO	28	broad.mit.edu	37	chr9	136131236	136131236	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccacacggcctcgatgccGttggcctggtcgaccatcat	6	9	11	15	4	1	0	1	0	0	0	3	2	1	0	5	3	2	1	5	3	0	1			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr9:136131236G>A	ENST00000453660.2	-	0	892							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CCTCGATGCCGTTGGCCTGGT	0.642													15	47					0	0	0	0	A	136131236	G	A	136131236	1	1	473	0	1	0	0	0	0	0	0	0	97	1136	40	1		1	ABO	9	136131236	RNA	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	34584896	136131236	5082195	21	91282											
PDLIM1	9124	broad.mit.edu	37	chr10	97028545	97028545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacttacctggggttcaGaggctaaattcatcttgtat	12	13	9	7	0	3	2	2	0	1	2	3	2	3	2	1	3	2	3	1	3	6	6			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr10:97028545G>A	ENST00000329399.6	-	3	431	c.323C>T	c.(322-324)tCt>tTt	p.S108F	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	108					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTGGGGTTCAGAGGCTAAATT	0.498													21	66					0	0	0	0	A	97028545	G	A	97028545	3	1	473	1	0	0	0	0	1	0	0	0	11750	942	33	2	686	2	PDLIM1	10	97028545	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08		97028545	38506202	22	91283											
ZFC3H1	196441	broad.mit.edu	37	chr12	72027093	72027093	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaacattaagaatttttTcagttgcttgaagctgttct	10	19	7	5	0	2	2	1	1	1	1	2	2	2	2	0	0	3	5	0	0	4	8			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr12:72027093T>A	ENST00000378743.3	-	13	2994	c.2636A>T	c.(2635-2637)gAa>gTa	p.E879V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	879					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGAATTTTTTCAGTTGCTTG	0.294													4	8					0	0	0	0	A	72027093	T	A	72027093	3	1	473	1	0	0	0	0	1	0	0	0	17728	1783	62	5	3425	5	ZFC3H1	12	72027093	Missense_Mutation	SNP	T	TCGA-QK-A6IF-01A-11D-A31L-08		72027093	61824802	23	91284											
ASCL1	429	broad.mit.edu	37	chr12	103352385	103352385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccggccgccgtggcGcgccgcaacgagcgcgagcg	6	1	17	17	10	0	0	0	0	0	0	0	2	0	0	4	2	5	2	4	2	1	0			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr12:103352385G>A	ENST00000266744.3	+	1	922	c.363G>A	c.(361-363)gcG>gcA	p.A121A		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	121					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						CCGCCGTGGCGCGCCGCAACG	0.667													4	18					0	0	0	0	A	103352385	G	A	103352385	2	1	473	1	0	0	0	0	0	0	0	1	1038	1074	38	1		1	ASCL1	12	103352385	Silent	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	31325292	103352385	30499510	24	91285											
RALGAPA1	253959	broad.mit.edu	37	chr14	36190922	36190922	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccgtactatactcctCgccttttcggttcctggaga	5	16	8	12	3	0	1	0	0	0	1	4	2	2	1	4	2	3	2	4	2	3	8	rs145761488	byFrequency	TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr14:36190922C>A	ENST00000258840.6	-	16	2628	c.2238G>T	c.(2236-2238)gcG>gcT	p.A746A	RALGAPA1_ENST00000307138.6_Silent_p.A746A|RALGAPA1_ENST00000389698.3_Silent_p.A746A|RALGAPA1_ENST00000382366.3_Silent_p.A746A|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	746					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTATACTCCTCGCCTTTTCGG	0.443													4	106					0.00909568	0.00909568	1	0	A	36190922	C	A	36190922	2	1	473	1	0	0	0	0	0	0	0	1	13095	871	31	3		3	RALGAPA1	14	36190922	Silent	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08		36190922	71158618	25	91286											
TC2N	123036	broad.mit.edu	37	chr14	92266688	92266688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagcccaggggaaccGggaagtttgttcgtccttaa	8	12	12	9	2	0	0	0	0	0	0	2	2	1	2	3	3	3	3	3	3	4	5			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr14:92266688G>A	ENST00000435962.2	-	5	821	c.498C>T	c.(496-498)ccC>ccT	p.P166P	TC2N_ENST00000556018.1_Silent_p.P166P|TC2N_ENST00000340892.5_Silent_p.P166P|TC2N_ENST00000360594.5_Silent_p.P166P	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	166						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CAGGGGAACCGGGAAGTTTGT	0.318													3	34					0	0	0	0	A	92266688	G	A	92266688	2	1	473	1	0	0	0	0	0	0	0	1	15759	1103	39	1		1	TC2N	14	92266688	Silent	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08	56075766	92266688	15082852	26	91287											
INO80	54617	broad.mit.edu	37	chr15	41372017	41372017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatctccttggtgaggCggcgggcacgaggcaaggtt	8	7	17	9	3	1	1	0	1	1	0	2	3	1	1	1	6	1	4	1	6	2	2			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr15:41372017C>T	ENST00000361937.3	-	9	1437	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	INO80_ENST00000401393.3_Missense_Mutation_p.R338H			Q9ULG1	INO80_HUMAN	INO80 complex subunit	338	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTTGGTGAGGCGGCGGGCACG	0.527													51	134					0	0	0	0	T	41372017	C	T	41372017	3	4	473	1	0	0	0	0	1	0	0	0	7799	768	27	1	3769	1	INO80	15	41372017	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08		41372017	61159375	27	91288											
ORAI3	93129	broad.mit.edu	37	chr16	30960832	30960832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgccttgctctcgggcttCgccatggtgaggggccggga	3	10	16	12	3	2	1	0	1	2	0	4	2	2	2	3	5	2	2	3	5	0	2			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr16:30960832C>T	ENST00000318663.4	+	1	446	c.222C>T	c.(220-222)ttC>ttT	p.F74F	ORAI3_ENST00000562699.1_Silent_p.F74F|ORAI3_ENST00000566237.1_Silent_p.F74F|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	74						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						TCTCGGGCTTCGCCATGGTGA	0.692													6	11					0	0	0	0	T	30960832	C	T	30960832	2	4	473	1	0	0	0	0	0	0	0	1	11330	883	31	1		1	ORAI3	16	30960832	Silent	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08		30960832	59393921	28	91289											
KRTAP17-1	83902	broad.mit.edu	37	chr17	39471807	39471807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagccacagcaggagccGcagcagccacagcagcccgg	11	0	12	18	2	0	0	0	0	0	0	0	1	0	1	5	2	7	4	5	2	0	0			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr17:39471807G>A	ENST00000334202.3	-	1	140	c.96C>T	c.(94-96)tgC>tgT	p.C32C		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	32						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			agcaggagccgcagcagccac	0.682													8	6					0	0	0	0	A	39471807	G	A	39471807	2	1	473	1	0	0	0	0	0	0	0	1	8579	1079	38	1		1	KRTAP17-1	17	39471807	Silent	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08		39471807	41723403	29	91290											
ZNF799	90576	broad.mit.edu	37	chr19	12502748	12502748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctctcatgtgtttgaagtGagttgtggtaactgaaggct	8	14	13	6	0	1	3	1	3	1	0	2	3	1	3	1	2	1	4	1	2	3	3			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr19:12502748G>A	ENST00000419318.1	-	4	1117	c.368C>T	c.(367-369)tCa>tTa	p.S123L	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S155L			Q96GE5	ZN799_HUMAN	zinc finger protein 799	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGTTTGAAGTGAGTTGTGGTA	0.423													40	64					0	0	0	0	A	12502748	G	A	12502748	3	1	473	1	0	0	0	0	1	0	0	0	18259	1294	45	2	1471	2	ZNF799	19	12502748	Missense_Mutation	SNP	G	TCGA-QK-A6IF-01A-11D-A31L-08		12502748	46626235	30	91291											
POLD1	5424	broad.mit.edu	37	chr19	50905073	50905073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggggcccccaccatccCgcggctccgtgcctgtgctc	2	7	13	19	3	0	0	0	0	0	0	3	0	2	0	6	4	2	2	6	4	0	0			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr19:50905073C>T	ENST00000440232.2	+	4	408	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	POLD1_ENST00000595904.1_Missense_Mutation_p.R119C|POLD1_ENST00000599857.1_Missense_Mutation_p.R119C	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	119			R -> H (in dbSNP:rs1726801).		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCCACCATCCCGCGGCTCCGT	0.672								DNA polymerases (catalytic subunits)					27	61					0	0	0	0	T	50905073	C	T	50905073	3	4	473	1	0	0	0	0	1	0	0	0	12262	652	23	1	365	1	POLD1	19	50905073	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08	38402325	50905073	8223910	31	91292											
PTTG1IP	754	broad.mit.edu	37	chr21	46276126	46276126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgttcctcctgccgtatcCgcctctcctcccgctcacgc	3	10	6	22	5	2	0	1	0	1	0	7	0	6	0	8	0	1	3	8	0	1	2	rs143122508		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr21:46276126C>T	ENST00000330938.3	-	4	651	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.R123Q|PTTG1IP_ENST00000397887.3_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	144					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		CTGCCGTATCCGCCTCTCCTC	0.597													33	80					0	0	0	0	T	46276126	C	T	46276126	3	4	473	1	0	0	0	0	1	0	0	0	12902	652	23	1	123	1	PTTG1IP	21	46276126	Missense_Mutation	SNP	C	TCGA-QK-A6IF-01A-11D-A31L-08		46276126	1853769	32	91293											
IRS4	8471	broad.mit.edu	37	chrX	107979125	107979126	+	Frame_Shift_Ins	INS	-	-	A																															tcacggaaaagcactggtatINSagggtgatcacgcgccgcgg																										TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chrX:107979125_107979126insA	ENST00000372129.2	-	1	525_526	c.449_450insT	c.(448-450)ctafs	p.L150fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	150	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCACTGGTATAGGGTGATCAC	0.644													26	22	---	---	---	---					A	107979126	-	A	107979125	7	5	473	1	0	1	1	0	0	0	0	0	7895	1393	49	0	3327	0	IRS4	23	107979125	Frame_Shift_Ins	INS	-	TCGA-QK-A6IF-01A-11D-A31L-08		107979125	47291435	33	91294											
PIK3CD	5293	broad.mit.edu	37	chr1	9778813	9778813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcaagacggtgtccagctCggaggtgagcgtgtgctcgg	6	8	18	9	4	0	2	0	1	0	1	3	3	1	3	1	4	4	3	1	4	1	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:9778813C>T	ENST00000536656.1	+	9	1185	c.977C>T	c.(976-978)tCg>tTg	p.S326L	PIK3CD_ENST00000377346.4_Missense_Mutation_p.S361L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.S326L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.S28L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	361					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGTCCAGCTCGGAGGTGAGC	0.637													13	53					0	0	0	0	T	9778813	C	T	9778813	3	4	474	1	0	0	0	0	1	0	0	0	11987	893	31	1	1108	1	PIK3CD	1	9778813	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		9778813	239471808	1	91295											
SPEN	23013	broad.mit.edu	37	chr1	16258342	16258342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagcttttggaattgaaGatggaggcagagaagattac	15	9	13	4	0	0	5	0	1	0	4	0	8	0	7	0	3	2	2	0	3	5	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:16258342G>C	ENST00000375759.3	+	11	5811	c.5607G>C	c.(5605-5607)aaG>aaC	p.K1869N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1869					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAATTGAAGATGGAGGCAG	0.507													10	65					0	0	0	0	C	16258342	G	C	16258342	3	2	474	1	0	0	0	0	1	0	0	0	15128	933	33	2	5649	2	SPEN	1	16258342	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	6479529	16258342	232992279	2	91296											
MRPS15	64960	broad.mit.edu	37	chr1	36921903	36921903	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctcaaagacatcatagTtggtgttacggaggtttttg	9	16	10	6	1	3	1	2	0	2	1	4	2	3	2	0	3	1	3	0	3	3	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:36921903T>G	ENST00000373116.5	-	7	682	c.521A>C	c.(520-522)aAc>aCc	p.N174T	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	174					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACATCATAGTTGGTGTTACG	0.468													10	51					0	0	0	0	G	36921903	T	G	36921903	3	3	474	1	0	0	0	0	1	0	0	0	9895	1725	60	5	260	5	MRPS15	1	36921903	Missense_Mutation	SNP	T	TCGA-QK-A6IG-01A-11D-A31L-08	20663561	36921903	212328718	3	91297											
MPL	4352	broad.mit.edu	37	chr1	43804213	43804213	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctcttctatgccaacagGgagaagccccgtgcttgccc	8	8	10	15	1	2	1	0	0	2	1	2	3	2	1	5	1	5	1	5	1	3	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:43804213G>A	ENST00000372470.3	+	3	255	c.212_splice	c.e3-1	p.R71_splice	MPL_ENST00000413998.2_Splice_Site_p.R71_splice	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	71					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGCCAACAGGGAGAAGCCCC	0.587			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						27	45					0	0	0	0	A	43804213	G	A	43804213	5	1	474	1	0	0	0	0	0	0	1	0	9800	1246	43	4	223	4	MPL	1	43804213	Splice_Site	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	6882310	43804213	205446408	4	91298											
MSH4	4438	broad.mit.edu	37	chr1	76378501	76378501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtttacgaatatatttaAgtaacctcaagaagaagtac	18	11	6	6	1	1	2	1	0	0	2	1	3	1	2	1	0	3	3	1	0	10	8			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:76378501A>G	ENST00000263187.3	+	20	2844	c.2740A>G	c.(2740-2742)Agt>Ggt	p.S914G		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	914			S -> N (in dbSNP:rs5745549).		chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATATATTTAAGTAACCTCAA	0.358								Mismatch excision repair (MMR)					4	25					0	0	0	0	G	76378501	A	G	76378501	3	3	474	1	0	0	0	0	1	0	0	0	9942	72	3	5	2818	5	MSH4	1	76378501	Missense_Mutation	SNP	A	TCGA-QK-A6IG-01A-11D-A31L-08	32574288	76378501	172872120	5	91299											
SPAG17	200162	broad.mit.edu	37	chr1	118644398	118644398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcgtcttctcctctcCgctttaactgggtggtcttt	2	18	10	11	2	4	0	0	0	4	0	7	0	4	0	2	3	1	1	2	3	1	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:118644398C>T	ENST00000336338.5	-	5	664	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	200						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTCCTCTCCGCTTTAACTG	0.512													46	84					0	0	0	0	T	118644398	C	T	118644398	3	4	474	1	0	0	0	0	1	0	0	0	15069	652	23	1	6248	1	SPAG17	1	118644398	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	42265897	118644398	130606223	6	91300											
GOLPH3L	55204	broad.mit.edu	37	chr1	150636133	150636133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctagtagtcgcttcttaCgcatggtcgggggttccaga	6	13	13	9	3	2	1	0	0	2	1	5	1	3	1	1	3	1	4	1	3	3	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:150636133C>T	ENST00000271732.3	-	3	334	c.290G>A	c.(289-291)cGt>cAt	p.R97H	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	97						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)			TCGCTTCTTACGCATGGTCGG	0.488													38	36					0	0	0	0	T	150636133	C	T	150636133	3	4	474	1	0	0	0	0	1	0	0	0	6617	536	19	1	579	1	GOLPH3L	1	150636133	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	31991735	150636133	98614488	7	91301											
PSMB4	5692	broad.mit.edu	37	chr1	151372586	151372586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctctcgcattatgcgagtCaacaacagtaccatgctggg	11	10	9	11	2	2	0	1	0	1	0	4	1	2	0	1	1	5	3	1	1	4	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:151372586C>T	ENST00000290541.6	+	2	324	c.270C>T	c.(268-270)gtC>gtT	p.V90V		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	90					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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			TTATGCGAGTCAACAACAGTA	0.537													36	193					0	0	0	0	T	151372586	C	T	151372586	2	4	474	1	0	0	0	0	0	0	0	1	12758	813	29	2		2	PSMB4	1	151372586	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	736453	151372586	97878035	8	91302											
ABL2	27	broad.mit.edu	37	chr1	179112101	179112101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagcagattctgaggcctCagtgcacaggcagcaaagtg	12	7	13	9	0	2	3	1	1	1	2	2	3	2	3	1	2	3	4	1	2	2	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:179112101C>T	ENST00000408940.3	-	1	78	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ABL2_ENST00000504405.1_Missense_Mutation_p.E27K|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000344730.3_Missense_Mutation_p.E27K|ABL2_ENST00000512653.1_Missense_Mutation_p.E27K|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000511413.1_Intron	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	0	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E27K(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTGAGGCCTCAGTGCACAGG	0.458			T	ETV6	AML								32	17					0	0	0	0	T	179112101	C	T	179112101	3	4	474	1	0	0	0	0	1	0	0	0	93	835	29	2	3517	2	ABL2	1	179112101	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	27739515	179112101	70138520	9	91303											
CAD	790	broad.mit.edu	37	chr2	27454980	27454980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgaatgaagcgtatcatcGcacatgcccagctgctagaa	13	7	9	12	3	1	2	1	1	0	1	2	3	1	2	2	0	4	4	2	0	5	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:27454980G>A	ENST00000264705.4	+	17	2695	c.2533G>A	c.(2533-2535)Gca>Aca	p.A845T	CAD_ENST00000403525.1_Missense_Mutation_p.A782T|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	845	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'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			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)	GCGTATCATCGCACATGCCCA	0.562													17	97					0	0	0	0	A	27454980	G	A	27454980	3	1	474	1	0	0	0	0	1	0	0	0	2590	1087	38	1	2599	1	CAD	2	27454980	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08		27454980	215744393	10	91304											
PLB1	151056	broad.mit.edu	37	chr2	28825739	28825739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaaccccactatcatgCggcaggtgttcctgggaaac	9	9	10	13	1	1	1	1	1	0	0	3	2	3	2	4	3	3	2	4	3	3	2	rs148017311	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:28825739C>T	ENST00000422425.2	+	38	2736	c.2692C>T	c.(2692-2694)Cgg>Tgg	p.R898W	PLB1_ENST00000541605.1_5'UTR|PLB1_ENST00000327757.5_Missense_Mutation_p.R909W	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	909	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CACTATCATGCGGCAGGTGTT	0.607													22	126					0	0	0	0	T	28825739	C	T	28825739	3	4	474	1	0	0	0	0	1	0	0	0	12096	759	27	1	2912	1	PLB1	2	28825739	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	1370759	28825739	214373634	11	91305											
TRMT61B	55006	broad.mit.edu	37	chr2	29092577	29092577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttccccacgatcttgccGaacgggactgccccccagtt	8	8	8	17	3	1	0	0	0	1	0	2	3	2	1	6	1	4	1	6	1	2	3	rs7583228		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:29092577G>T	ENST00000306108.5	-	1	590	c.567C>A	c.(565-567)ttC>ttA	p.F189L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	189							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGATCTTGCCGAACGGGACTG	0.468													39	68					2.19489e-29	2.39839e-29	1	0	T	29092577	G	T	29092577	3	4	474	1	0	0	0	0	1	0	0	0	16665	1049	37	3	894	3	TRMT61B	2	29092577	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	266838	29092577	214106796	12	91306											
SLC8A1	6546	broad.mit.edu	37	chr2	40397466	40397466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcggatgttctctagcatGaaccttcctgaagacaggtt	11	12	9	9	1	1	3	0	2	1	1	4	4	2	4	2	2	2	3	2	2	4	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:40397466G>A	ENST00000542756.1	-	6	2001	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.H660Y|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.H657Y|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000403092.1_Missense_Mutation_p.H665Y|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Missense_Mutation_p.H665Y|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	665					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	TCTCTAGCATGAACCTTCCTG	0.418													11	28					0	0	0	0	A	40397466	G	A	40397466	3	1	474	1	0	0	0	0	1	0	0	0	14794	1290	45	2	948	2	SLC8A1	2	40397466	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	11304889	40397466	202801907	13	91307											
ARHGEF4	50649	broad.mit.edu	37	chr2	131796456	131796456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcagtgtggtctgcgctGaagcactctgggaccatgtc	7	10	14	10	1	2	1	0	1	2	0	3	2	2	2	1	3	2	3	1	3	1	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:131796456G>A	ENST00000392953.3	+	6	1117	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E129K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E200K	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	200	SH3.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGTCTGCGCTGAAGCACTCTG	0.627													11	55					0	0	0	0	A	131796456	G	A	131796456	3	1	474	1	0	0	0	0	1	0	0	0	910	1291	45	2	612	2	ARHGEF4	2	131796456	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	91398990	131796456	111402917	14	91308											
NEB	4703	broad.mit.edu	37	chr2	152574009	152574009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgaattgagcttgctgtTcagcgagaccttttttgtag	7	15	12	7	2	1	3	1	2	0	1	1	4	1	3	1	0	3	4	1	0	2	7			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:152574009T>C	ENST00000427231.2	-	10	945	c.743A>G	c.(742-744)gAa>gGa	p.E248G	NEB_ENST00000603639.1_Missense_Mutation_p.E248G|NEB_ENST00000172853.10_Missense_Mutation_p.E248G|NEB_ENST00000409198.1_Missense_Mutation_p.E248G|NEB_ENST00000604864.1_Missense_Mutation_p.E248G|NEB_ENST00000397345.3_Missense_Mutation_p.E248G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	248					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTTGCTGTTCAGCGAGACC	0.373													4	39					0	0	0	0	C	152574009	T	C	152574009	3	2	474	1	0	0	0	0	1	0	0	0	10372	1783	62	5	25635	5	NEB	2	152574009	Missense_Mutation	SNP	T	TCGA-QK-A6IG-01A-11D-A31L-08	20777553	152574009	90625364	15	91309											
CASP8	841	broad.mit.edu	37	chr2	202150039	202150039	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgagagagcgatgtcctCggtaagttttgcctactcag	8	11	12	10	2	1	2	1	1	0	1	3	4	2	2	3	1	3	2	3	1	2	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:202150039C>T	ENST00000358485.4	+	8	1676	c.1481_splice	c.e8+1	p.R494_splice	CASP8_ENST00000323492.7_Splice_Site_p.R420_splice|CASP8_ENST00000432109.2_Splice_Site_p.R435_splice|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000392259.2_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502										HNSCC(4;0.00038)			27	34					0	0	0	0	T	202150039	C	T	202150039	5	4	474	1	0	0	0	0	0	0	1	0	2702	898	31	1	1610	1	CASP8	2	202150039	Splice_Site	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	49576030	202150039	41049334	16	91310											
SCN5A	6331	broad.mit.edu	37	chr3	38592386	38592386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggttgggcttggcgataCggagtggctcagacagggca	7	9	17	8	2	2	1	1	0	1	1	2	3	2	2	0	6	1	4	0	6	1	3	rs137854610		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:38592386C>T	ENST00000413689.1	-	28	5670	c.5477G>A	c.(5476-5478)cGt>cAt	p.R1826H	SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1826H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1826			R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTGGCGATACGGAGTGGCTC	0.507													25	44					0	0	0	0	T	38592386	C	T	38592386	3	4	474	1	0	0	0	0	1	0	0	0	14009	536	19	1	577	1	SCN5A	3	38592386	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		38592386	159430044	17	91311											
CCDC13	152206	broad.mit.edu	37	chr3	42781263	42781263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacttcttttttagctcttCaagctctctctggaggacat	8	16	7	10	0	5	0	1	0	4	0	6	3	5	2	0	2	3	2	0	2	3	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:42781263C>T	ENST00000310232.6	-	9	1110	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	343										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTAGCTCTTCAAGCTCTCTC	0.517													11	72					0	0	0	0	T	42781263	C	T	42781263	3	4	474	1	0	0	0	0	1	0	0	0	2790	835	29	2	1152	2	CCDC13	3	42781263	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	4188877	42781263	155241167	18	91312											
IMPG2	50939	broad.mit.edu	37	chr3	100963365	100963365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaccttttgcccagaccCtgaacctaaaccaccgtcaa	12	9	4	16	1	2	2	1	1	1	1	2	2	2	2	6	0	4	0	6	0	5	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:100963365C>A	ENST00000193391.7	-	13	1997	c.1810G>T	c.(1810-1812)Ggg>Tgg	p.G604W		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	604					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGCCCAGACCCTGAACCTAAA	0.463													21	113					2.32416e-17	2.49017e-17	1	0	A	100963365	C	A	100963365	3	1	474	1	0	0	0	0	1	0	0	0	7782	681	24	4	1943	4	IMPG2	3	100963365	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	58182102	100963365	97059065	19	91313											
SKIL	6498	broad.mit.edu	37	chr3	170078548	170078548	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcagatagctccacagaActcactcagactgtgttgga	11	10	8	12	0	3	3	3	0	0	3	4	4	4	4	2	1	2	2	2	1	2	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:170078548A>G	ENST00000458537.3	+	1	1138	c.429A>G	c.(427-429)gaA>gaG	p.E143E	SKIL_ENST00000426052.2_Silent_p.E123E|SKIL_ENST00000413427.2_Silent_p.E143E|SKIL_ENST00000259119.4_Silent_p.E143E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	143					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTCCACAGAACTCACTCAGA	0.468													5	164					0	0	0	0	G	170078548	A	G	170078548	2	3	474	1	0	0	0	0	0	0	0	1	14446	40	2	5		5	SKIL	3	170078548	Silent	SNP	A	TCGA-QK-A6IG-01A-11D-A31L-08	69115183	170078548	27943882	20	91314											
CRYGS	1427	broad.mit.edu	37	chr3	186256601	186256601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacggtagttgggtagctCatagaaaatccagacaccct	12	8	10	11	1	1	2	1	0	0	2	2	2	2	2	3	2	1	4	3	2	5	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:186256601C>T	ENST00000392499.2	-	4	760	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CRYGS_ENST00000307944.5_Missense_Mutation_p.E141K	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	141	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TTGGGTAGCTCATAGAAAATC	0.537													10	37					0	0	0	0	T	186256601	C	T	186256601	3	4	474	1	0	0	0	0	1	0	0	0	3949	835	29	2	119	2	CRYGS	3	186256601	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	16178053	186256601	11765829	21	91315											
ADAMTS3	9508	broad.mit.edu	37	chr4	73175219	73175219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttattagaaccaatttCtttatcacagcccactttct	12	15	2	12	0	3	1	1	0	2	1	3	1	3	1	3	0	3	0	3	0	6	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:73175219C>G	ENST00000286657.4	-	15	2110	c.2074G>C	c.(2074-2076)Gaa>Caa	p.E692Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	692	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAACCAATTTCTTTATCACAG	0.448													11	48					0	0	0	0	G	73175219	C	G	73175219	3	3	474	1	0	0	0	0	1	0	0	0	267	922	32	2	1575	2	ADAMTS3	4	73175219	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		73175219	117979057	22	91316											
USP53	54532	broad.mit.edu	37	chr4	120169904	120169904	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttgtcgattcccagaCgatatttgcacagttccaac	9	15	6	11	2	1	1	0	0	1	1	4	3	3	1	2	0	2	2	2	0	2	7			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:120169904C>T	ENST00000450251.1	+	3	783	c.237_splice	c.e3-1	p.T80_splice	USP53_ENST00000274030.6_Splice_Site_p.T80_splice			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	80					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GATTCCCAGACGATATTTGCA	0.378													26	33					0	0	0	0	T	120169904	C	T	120169904	5	4	474	1	0	0	0	0	0	0	1	0	17180	550	19	1	249	1	USP53	4	120169904	Splice_Site	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	46994685	120169904	70984372	23	91317											
PCDH18	54510	broad.mit.edu	37	chr4	138442219	138442219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaagcagtttgttaatCtctgccaccagttcactggc	8	14	8	11	0	3	1	1	1	2	0	4	1	3	1	2	1	2	4	2	1	2	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:138442219C>A	ENST00000344876.4	-	4	3758	c.3372G>T	c.(3370-3372)gaG>gaT	p.E1124D	PCDH18_ENST00000510305.1_Missense_Mutation_p.E335D|PCDH18_ENST00000412923.2_Missense_Mutation_p.E1123D|PCDH18_ENST00000511115.1_Missense_Mutation_p.E304D|PCDH18_ENST00000507846.1_Missense_Mutation_p.E903D	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1124	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTTGTTAATCTCTGCCACCA	0.408													17	26					1.50039e-11	1.56686e-11	1	0	A	138442219	C	A	138442219	3	1	474	1	0	0	0	0	1	0	0	0	11584	912	32	2	39	2	PCDH18	4	138442219	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	18272315	138442219	52712057	24	91318											
GPR98	84059	broad.mit.edu	37	chr5	90040955	90040955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttctggaagtaccttctGcttatgatgtggcttctgtt	5	19	10	7	0	3	1	0	1	3	0	3	2	3	2	1	2	2	5	1	2	3	7			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr5:90040955G>A	ENST00000405460.2	+	51	10738	c.10642G>A	c.(10642-10644)Gct>Act	p.A3548T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTACCTTCTGCTTATGATGT	0.403													73	94					0	0	0	0	A	90040955	G	A	90040955	3	1	474	1	0	0	0	0	1	0	0	0	6771	1319	46	4	10844	4	GPR98	5	90040955	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08		90040955	90874305	25	91319											
CDC25C	995	broad.mit.edu	37	chr5	137626346	137626346	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttggaaaaatcaccaatCaggtgcccctggttagaatc	13	9	8	11	0	2	1	2	0	0	1	3	2	2	2	4	3	1	1	4	3	5	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr5:137626346C>G	ENST00000323760.6	-	9	1124	c.846G>C	c.(844-846)ctG>ctC	p.L282L	CDC25C_ENST00000356505.3_Silent_p.L252L|CDC25C_ENST00000348983.3_Silent_p.L209L|CDC25C_ENST00000415130.2_Silent_p.L209L|CDC25C_ENST00000357274.3_Silent_p.L239L|CDC25C_ENST00000514555.1_Silent_p.L252L|CDC25C_ENST00000513970.1_Silent_p.L282L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	282					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AATCACCAATCAGGTGCCCCT	0.433													15	36					0	0	0	0	G	137626346	C	G	137626346	2	3	474	1	0	0	0	0	0	0	0	1	3093	813	29	2		2	CDC25C	5	137626346	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	47585391	137626346	43288914	26	91320											
RIPK1	8737	broad.mit.edu	37	chr6	3113558	3113558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctgagcagcttgatttaCgtcagccagaactaaccctg	10	11	8	12	1	2	3	1	2	1	1	2	3	2	3	2	0	6	2	2	0	3	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:3113558C>T	ENST00000259808.4	+	11	2299	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	RIPK1_ENST00000541791.1_Silent_p.Y621Y|RIPK1_ENST00000380409.2_Silent_p.Y667Y			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	667	Death.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCTTGATTTACGTCAGCCAGA	0.557													3	47					0	0	0	0	T	3113558	C	T	3113558	2	4	474	1	0	0	0	0	0	0	0	1	13465	547	19	1		1	RIPK1	6	3113558	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		3113558	168001509	27	91321											
BTN2A2	10385	broad.mit.edu	37	chr6	26388400	26388400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtttccatcgctgatgCtgacggcctcttcatggtca	6	12	12	11	2	3	2	2	2	1	0	5	3	4	3	2	4	1	3	2	4	0	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:26388400C>T	ENST00000356709.4	+	4	713	c.602C>T	c.(601-603)gCt>gTt	p.A201V	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A201V|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A201V|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A85V	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	201	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ATCGCTGATGCTGACGGCCTC	0.572													26	99					0	0	0	0	T	26388400	C	T	26388400	3	4	474	1	0	0	0	0	1	0	0	0	1570	797	28	4	612	4	BTN2A2	6	26388400	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	23274842	26388400	144726667	28	91322											
EHMT2	10919	broad.mit.edu	37	chr6	31864575	31864575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcagggtttcttcactacGaggggtgtcccccaaagagc	8	8	14	11	1	2	1	1	0	1	1	3	2	3	1	2	4	2	2	2	4	2	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:31864575G>A	ENST00000395728.3	-	2	306	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	EHMT2_ENST00000375528.4_Missense_Mutation_p.R103C|EHMT2_ENST00000375530.4_Missense_Mutation_p.R46C|EHMT2_ENST00000375537.4_Missense_Mutation_p.R46C			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	46					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCTTCACTACGAGGGGTGTCC	0.567													19	107					0	0	0	0	A	31864575	G	A	31864575	3	1	474	1	0	0	0	0	1	0	0	0	5020	1058	37	1	3600	1	EHMT2	6	31864575	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	5476175	31864575	139250492	29	91323											
DST	667	broad.mit.edu	37	chr6	56482903	56482904	+	Frame_Shift_Ins	INS	-	-	AATG																															tcaatttcagacagtcttgtINSaatggggtttgtctcatcaa																										TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:56482903_56482904insAATG	ENST00000370765.6	-	23	6035_6036	c.5928_5929insCATT	c.(5926-5931)atcaagfs	p.K1977fs	DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1376					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACAGTCTTGTAATGGGGTTTG	0.426													10	70	---	---	---	---					AATG	56482904	-	AATG	56482903	7	5	474	1	0	1	1	0	0	0	0	0	4819	1638	57	0	14474	0	DST	6	56482903	Frame_Shift_Ins	INS	-	TCGA-QK-A6IG-01A-11D-A31L-08	24618328	56482903	114632164	30	91324											
DST	667	broad.mit.edu	37	chr6	56505363	56505363	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacacagaagaacattCgttccttaaggccataattt	13	12	7	9	1	0	2	0	0	0	2	2	2	1	2	2	1	2	3	2	1	5	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:56505363C>A	ENST00000370754.5	-	17	1968	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	DST_ENST00000370788.2_Nonsense_Mutation_p.E479*|DST_ENST00000244364.6_Nonsense_Mutation_p.E153*|DST_ENST00000421834.2_Nonsense_Mutation_p.E479*|DST_ENST00000361203.3_Nonsense_Mutation_p.E479*|DST_ENST00000312431.6_Nonsense_Mutation_p.E479*|DST_ENST00000518935.1_Nonsense_Mutation_p.E153*|DST_ENST00000370765.6_Nonsense_Mutation_p.E153*|DST_ENST00000446842.2_Nonsense_Mutation_p.E153*|DST_ENST00000370769.4_Nonsense_Mutation_p.E479*			Q03001	DYST_HUMAN	dystonin	479					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAGAACATTCGTTCCTTAAG	0.388													44	49					3.86361e-14	4.06048e-14	1	0	A	56505363	C	A	56505363	4	1	474	1	0	0	0	0	0	1	0	0	4819	893	31	3	20022	3	DST	6	56505363	Nonsense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	22460	56505363	114609704	31	91325											
OOEP	441161	broad.mit.edu	37	chr6	74079426	74079426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgcgaatctgtggcggCggaagtggtaacctacgcag	9	7	16	9	5	1	0	0	0	1	0	1	3	1	2	1	5	3	2	1	5	4	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:74079426C>T	ENST00000370359.5	-	1	89	c.90G>A	c.(88-90)ccG>ccA	p.P30P	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	30						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TCTGTGGCGGCGGAAGTGGTA	0.612													84	73					0	0	0	0	T	74079426	C	T	74079426	2	4	474	1	0	0	0	0	0	0	0	1	10941	755	27	1		1	OOEP	6	74079426	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	17574063	74079426	97035641	32	91326											
COL12A1	1303	broad.mit.edu	37	chr6	75865511	75865511	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctcccaagtcactcGgaagcttgacatggttgggt	8	9	14	10	1	1	1	1	1	0	0	3	2	2	2	1	5	1	4	1	5	2	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:75865511G>A	ENST00000322507.8	-	16	3619	c.3310C>T	c.(3310-3312)Cga>Tga	p.R1104*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.R1104*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.R1104*|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1104	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R1104R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAGTCACTCGGAAGCTTGAC	0.458													21	138					0	0	0	0	A	75865511	G	A	75865511	4	1	474	1	0	0	0	0	0	1	0	0	3699	1124	39	1	6085	1	COL12A1	6	75865511	Nonsense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	1786085	75865511	95249556	33	91327											
ROS1	6098	broad.mit.edu	37	chr6	117704527	117704527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtagtacaagggaactttCcccatttagtctggtgcttt	8	15	9	9	0	1	0	0	0	1	0	2	1	2	1	2	2	3	3	2	2	5	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:117704527C>T	ENST00000368508.3	-	16	2647	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E812K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	817					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGGAACTTTCCCCATTTAGT	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								25	108					0	0	0	0	T	117704527	C	T	117704527	3	4	474	1	0	0	0	0	1	0	0	0	13616	864	30	2	4706	2	ROS1	6	117704527	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	41839016	117704527	53410540	34	91328											
MAN1A1	4121	broad.mit.edu	37	chr6	119611873	119611873	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagacagatagtaggctGagagtagtccaccaacaaag	15	6	10	10	0	0	3	0	1	0	3	2	4	2	3	3	1	1	3	3	1	5	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:119611873G>C	ENST00000368468.3	-	5	1313	c.872C>G	c.(871-873)tCa>tGa	p.S291*	MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.S314*	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	291					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATAGTAGGCTGAGAGTAGTCC	0.318													6	52					0	0	0	0	C	119611873	G	C	119611873	4	2	474	1	0	0	0	0	0	1	0	0	9279	1294	45	2	1125	2	MAN1A1	6	119611873	Nonsense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	1907346	119611873	51503194	35	91329											
NMBR	4829	broad.mit.edu	37	chr6	142399868	142399868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgtttgagggtatgggaTacatgctgtgaagctgctat	9	14	13	5	0	1	2	0	2	1	0	1	3	1	3	0	2	4	5	0	2	4	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:142399868T>C	ENST00000258042.1	-	2	735	c.595A>G	c.(595-597)Atc>Gtc	p.I199V		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	199					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGGTATGGGATACATGCTGTG	0.433													77	81					0	0	0	0	C	142399868	T	C	142399868	3	2	474	1	0	0	0	0	1	0	0	0	10557	1406	49	5	585	5	NMBR	6	142399868	Missense_Mutation	SNP	T	TCGA-QK-A6IG-01A-11D-A31L-08	22787995	142399868	28715199	36	91330											
RMND1	55005	broad.mit.edu	37	chr6	151766915	151766915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgataatatatgatgagatCtggccacggctctgaggagt	11	12	12	6	1	2	4	0	4	2	1	2	6	2	5	1	3	0	1	1	3	3	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:151766915C>A	ENST00000367303.4	-	2	154	c.32G>T	c.(31-33)aGa>aTa	p.R11I	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	11										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		ATGATGAGATCTGGCCACGGC	0.363													3	26					0.115264	0.115264	1	0	A	151766915	C	A	151766915	3	1	474	1	0	0	0	0	1	0	0	0	13481	913	32	2	1361	2	RMND1	6	151766915	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	9367047	151766915	19348152	37	91331											
INTS1	26173	broad.mit.edu	37	chr7	1538159	1538159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacttgatggtggtgccCaggttgtccttgtgcgcgct	5	12	13	11	2	0	1	0	1	0	0	1	1	1	1	3	3	3	2	3	3	1	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:1538159C>T	ENST00000389470.4	-	11	1697	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	INTS1_ENST00000404767.3_Silent_p.L438L			Q8N201	INT1_HUMAN	integrator complex subunit 1	438					snRNA processing	integral to membrane|integrator complex|nuclear membrane				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)		TGGTGGTGCCCAGGTTGTCCT	0.627													5	46					0	0	0	0	T	1538159	C	T	1538159	2	4	474	1	0	0	0	0	0	0	0	1	7828	581	21	4		4	INTS1	7	1538159	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		1538159	157600504	38	91332											
HDAC9	9734	broad.mit.edu	37	chr7	18684345	18684345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaagattccatgaacctgCtaagtctttatacctctcct	11	14	5	11	0	2	3	0	2	2	1	4	3	3	3	4	0	3	1	4	0	5	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:18684345C>T	ENST00000406451.3	+	9	1105	c.955C>T	c.(955-957)Cta>Tta	p.L319L	HDAC9_ENST00000432645.2_Silent_p.L319L|HDAC9_ENST00000417496.2_Silent_p.L317L|HDAC9_ENST00000456174.2_Silent_p.L291L|HDAC9_ENST00000524023.1_Silent_p.L242L|HDAC9_ENST00000401921.1_Silent_p.L278L|HDAC9_ENST00000441542.2_Silent_p.L322L|HDAC9_ENST00000406072.1_Silent_p.L306L|HDAC9_ENST00000405010.3_Silent_p.L319L|HDAC9_ENST00000428307.2_Silent_p.L275L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	319	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CATGAACCTGCTAAGTCTTTA	0.413													18	24					0	0	0	0	T	18684345	C	T	18684345	2	4	474	1	0	0	0	0	0	0	0	1	7064	796	28	4		4	HDAC9	7	18684345	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	17146186	18684345	140454318	39	91333											
GLI3	2737	broad.mit.edu	37	chr7	42079725	42079725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcgtgaccaaggagttggGagacgtccttatcatggtct	10	11	12	8	2	2	2	1	1	1	1	4	4	3	3	2	3	0	1	2	3	3	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:42079725G>A	ENST00000395925.3	-	7	1024	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	314					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AAGGAGTTGGGAGACGTCCTT	0.498									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				47	41					0	0	0	0	A	42079725	G	A	42079725	3	1	474	1	0	0	0	0	1	0	0	0	6490	1174	41	2	3838	2	GLI3	7	42079725	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	23395380	42079725	117058938	40	91334											
GLI3	2737	broad.mit.edu	37	chr7	42088212	42088212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagggctgaagggagactcgGaagcagcagtggggttccgg	9	5	20	7	2	0	2	0	1	0	1	2	5	1	3	1	6	2	4	1	6	2	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:42088212G>A	ENST00000395925.3	-	5	641	c.557C>T	c.(556-558)tCc>tTc	p.S186F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	186					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGAGACTCGGAAGCAGCAGT	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				12	87					0	0	0	0	A	42088212	G	A	42088212	3	1	474	1	0	0	0	0	1	0	0	0	6490	1174	41	2	4229	2	GLI3	7	42088212	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	8487	42088212	117050451	41	91335											
AKAP9	10142	broad.mit.edu	37	chr7	91690634	91690634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcatttagacagaaacaaGaagcaacagagtcccttaag	18	7	8	8	0	1	4	1	0	0	4	2	4	2	4	1	0	3	1	1	0	6	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:91690634G>C	ENST00000359028.2	+	24	5923	c.5698G>C	c.(5698-5700)Gaa>Caa	p.E1900Q	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1900Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1888Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1900	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAAACAAGAAGCAACAGA	0.448			T	BRAF	papillary thyroid								10	33					0	0	0	0	C	91690634	G	C	91690634	3	2	474	1	0	0	0	0	1	0	0	0	459	943	33	2	5752	2	AKAP9	7	91690634	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	49602422	91690634	67448029	42	91336											
ASB4	51666	broad.mit.edu	37	chr7	95166913	95166913	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttttaccactctctctttActgtgtgctgtaactctcca	7	18	4	12	0	3	0	0	0	3	0	5	0	3	0	2	0	4	2	2	0	3	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:95166913A>T	ENST00000325885.5	+	5	1194	c.1123A>T	c.(1123-1125)Act>Tct	p.T375S		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	375	SOCS box.				intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTCTCTCTTTACTGTGTGCTG	0.393													30	57					0	0	0	0	T	95166913	A	T	95166913	3	4	474	1	0	0	0	0	1	0	0	0	1029	391	14	5	1213	5	ASB4	7	95166913	Missense_Mutation	SNP	A	TCGA-QK-A6IG-01A-11D-A31L-08	3476279	95166913	63971750	43	91337											
FBXL13	222235	broad.mit.edu	37	chr7	102553619	102553619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcctttgtctgtgaaccGtctgcaataagccaaactaa	13	11	7	10	1	2	1	0	1	2	0	2	1	2	1	3	0	5	1	3	0	6	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:102553619G>A	ENST00000393772.2	-	11	1348	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.R308W|FBXL13_ENST00000313221.4_Missense_Mutation_p.R308W|FBXL13_ENST00000379305.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379306.3_Missense_Mutation_p.R308W|FBXL13_ENST00000436908.1_Missense_Mutation_p.R308W|FBXL13_ENST00000456695.1_Missense_Mutation_p.R308W|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.R308W			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	308										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGTGAACCGTCTGCAATAA	0.438													20	47					0	0	0	0	A	102553619	G	A	102553619	3	1	474	1	0	0	0	0	1	0	0	0	5754	1144	40	1	1325	1	FBXL13	7	102553619	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	7386706	102553619	56585044	44	91338											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4	---	---	---	---					-	6673270	A	-	6673270	6	5	474	0	1	1	0	1	0	0	0	0	17530	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-QK-A6IG-01A-11D-A31L-08		6673270	139690752	45	91339											
NUDT18	79873	broad.mit.edu	37	chr8	21965792	21965792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctcccctggctccattctCcccgcaggcaggtaccacga	6	8	9	18	2	2	0	0	0	2	0	5	1	3	0	6	3	1	4	6	3	1	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:21965792C>T	ENST00000309188.6	-	4	346	c.228G>A	c.(226-228)ggG>ggA	p.G76G	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_5'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	76	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		GCTCCATTCTCCCCGCAGGCA	0.652													3	13					0	0	0	0	T	21965792	C	T	21965792	2	4	474	1	0	0	0	0	0	0	0	1	10806	842	30	2		2	NUDT18	8	21965792	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	15292522	21965792	124398230	46	91340											
RP1	6101	broad.mit.edu	37	chr8	55534103	55534103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgacagaggtcatgcagCgccctgtggtcaagctgtac	9	8	12	12	1	2	2	2	1	0	1	2	2	2	2	2	2	4	3	2	2	2	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:55534103C>T	ENST00000220676.1	+	2	725	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	193	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTCATGCAGCGCCCTGTGGT	0.587													37	217					0	0	0	0	T	55534103	C	T	55534103	3	4	474	1	0	0	0	0	1	0	0	0	13617	768	27	1	579	1	RP1	8	55534103	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	33568311	55534103	90829919	47	91341											
CA8	767	broad.mit.edu	37	chr8	61192399	61192399	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggttaataggagactggtaTtccccattagcatcaggaaa	14	10	10	7	0	1	1	1	0	0	1	2	3	2	2	2	4	1	3	2	4	5	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:61192399T>C	ENST00000317995.4	-	2	405	c.141A>G	c.(139-141)gaA>gaG	p.E47E		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	47					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GAGACTGGTATTCCCCATTAG	0.403													6	26					0	0	0	0	C	61192399	T	C	61192399	2	2	474	1	0	0	0	0	0	0	0	1	2548	1490	52	5		5	CA8	8	61192399	Silent	SNP	T	TCGA-QK-A6IG-01A-11D-A31L-08	5658296	61192399	85171623	48	91342											
TATDN1	83940	broad.mit.edu	37	chr8	125516547	125516547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atataaagatccaagtcaatCaaagcagctgctgcttcctt	14	11	6	10	0	2	1	2	0	0	1	4	1	4	1	2	0	4	4	2	0	6	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:125516547C>G	ENST00000276692.6	-	9	595	c.558G>C	c.(556-558)ttG>ttC	p.L186F	TATDN1_ENST00000605953.1_Missense_Mutation_p.L186F|TATDN1_ENST00000517678.1_Missense_Mutation_p.L132F|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Missense_Mutation_p.L139F	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	186						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCAAGTCAATCAAAGCAGCTG	0.318													16	87					0	0	0	0	G	125516547	C	G	125516547	3	3	474	1	0	0	0	0	1	0	0	0	15682	825	29	2	351	2	TATDN1	8	125516547	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	64324148	125516547	20847475	49	91343											
HSF1	3297	broad.mit.edu	37	chr8	145534902	145534902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtggccagccttcggcaGaagcatgcccagcaacagaa	12	4	13	12	1	0	2	0	0	0	2	1	3	0	2	3	3	5	3	3	3	3	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:145534902G>C	ENST00000528838.1	+	5	691	c.531G>C	c.(529-531)caG>caC	p.Q177H	HSF1_ENST00000400780.4_Missense_Mutation_p.Q112H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	177	Hydrophobic repeat HR-A/B.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GCCTTCGGCAGAAGCATGCCC	0.662													3	39					0	0	0	0	C	145534902	G	C	145534902	3	2	474	1	0	0	0	0	1	0	0	0	7445	933	33	2	549	2	HSF1	8	145534902	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	20018355	145534902	829120	50	91344											
ARHGAP39	80728	broad.mit.edu	37	chr8	145781002	145781002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaatctcatagtccttctCaaggaacactcctggtggtg	10	12	9	10	0	2	0	2	0	2	0	6	1	4	1	2	3	1	1	2	3	5	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:145781002C>G	ENST00000276826.5	-	3	739	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E180Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E180Q			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	180					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TAGTCCTTCTCAAGGAACACT	0.468													37	92					0	0	0	0	G	145781002	C	G	145781002	3	3	474	1	0	0	0	0	1	0	0	0	886	835	29	2	2842	2	ARHGAP39	8	145781002	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	246100	145781002	583020	51	91345											
IFNA17	3451	broad.mit.edu	37	chr9	21227789	21227789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcaggggagtctcttccatCccaacctcctgtatcacaca	10	10	6	15	0	3	0	2	0	1	0	7	1	6	1	4	2	1	1	4	2	2	2	rs143881964	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:21227789C>T	ENST00000413767.2	-	1	432	c.384G>A	c.(382-384)ggG>ggA	p.G128G		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	128					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCTCTTCCATCCCAACCTCCT	0.443													162	61					0	0	0	0	T	21227789	C	T	21227789	2	4	474	1	0	0	0	0	0	0	0	1	7589	842	30	2		2	IFNA17	9	21227789	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		21227789	119985642	52	91346											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			20	11					0	0	0	0	A	21971186	G	A	21971186	4	1	474	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	743397	21971186	119242245	53	91347											
CNTNAP3	79937	broad.mit.edu	37	chr9	39133068	39133068	+	Frame_Shift_Del	DEL	G	G	-																															gccgagcgcgggtgcccgctGggggcacctcggagggtcac																										TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:39133068delG	ENST00000297668.6	-	13	2014	c.1941delC	c.(1939-1941)ccfs	p.P647fs	CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.P559fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000323947.7_Frame_Shift_Del_p.P553fs|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.P646fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	647	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTGCCCGCTGGGGGCACCTC	0.731													2	4	---	---	---	---					-	39133068	G	-	39133068	7	5	474	1	0	1	0	1	0	0	0	0	3678	1335	47	0	1973	0	CNTNAP3	9	39133068	Frame_Shift_Del	DEL	G	TCGA-QK-A6IG-01A-11D-A31L-08	17161882	39133068	102080363	54	91348											
CEP78	84131	broad.mit.edu	37	chr9	80879159	80879159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatatgatcctggatgatGaaggtgttttgggcagcatt	11	13	12	5	0	0	3	0	3	0	0	1	4	1	4	1	3	1	3	1	3	3	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:80879159G>C	ENST00000424347.2	+	13	1841	c.1552G>C	c.(1552-1554)Gaa>Caa	p.E518Q	CEP78_ENST00000415759.2_Missense_Mutation_p.E519Q|CEP78_ENST00000277082.5_Missense_Mutation_p.E518Q|CEP78_ENST00000376598.2_Missense_Mutation_p.E518Q|CEP78_ENST00000376597.4_Missense_Mutation_p.E519Q			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	518					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CCTGGATGATGAAGGTGTTTT	0.373													5	41					0	0	0	0	C	80879159	G	C	80879159	3	2	474	1	0	0	0	0	1	0	0	0	3291	1291	45	2	1605	2	CEP78	9	80879159	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	41746091	80879159	60334272	55	91349											
RABGAP1	23637	broad.mit.edu	37	chr9	125827663	125827663	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgctatcacccgggatattAaccgaacattcccagcccat	11	9	7	14	2	1	0	1	0	0	0	2	2	2	1	4	1	4	1	4	1	4	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:125827663A>G	ENST00000373647.4	+	14	1965	c.1831A>G	c.(1831-1833)Aac>Gac	p.N611D	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	611	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CCGGGATATTAACCGAACATT	0.388													4	157					0	0	0	0	G	125827663	A	G	125827663	3	3	474	1	0	0	0	0	1	0	0	0	13046	362	13	5	1881	5	RABGAP1	9	125827663	Missense_Mutation	SNP	A	TCGA-QK-A6IG-01A-11D-A31L-08	44948504	125827663	15385768	56	91350											
CEL	1056	broad.mit.edu	37	chr9	135946421	135946421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccacacactgggaaccctAcactacggaaaacagcggct	13	4	9	15	2	0	0	0	0	0	0	0	2	0	2	2	3	5	1	2	3	5	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:135946421A>G	ENST00000372080.4	+	11	1557	c.1541A>G	c.(1540-1542)tAc>tGc	p.Y514C	CEL_ENST00000351304.7_Missense_Mutation_p.Y445C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	511					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGAACCCTACACTACGGAA	0.612													8	62					0	0	0	0	G	135946421	A	G	135946421	3	3	474	1	0	0	0	0	1	0	0	0	3238	391	14	5	1583	5	CEL	9	135946421	Missense_Mutation	SNP	A	TCGA-QK-A6IG-01A-11D-A31L-08	10118758	135946421	5267010	57	91351											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714833	138714833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggtgaggccctggggaaCtccgggtcagcctgctgggg	4	6	20	11	2	1	1	1	1	0	0	2	2	2	2	3	8	3	1	3	8	1	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:138714833C>T	ENST00000389532.4	-	11	1738	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	CAMSAP1_ENST00000409386.3_Silent_p.E569E|CAMSAP1_ENST00000312405.6_Silent_p.E280E|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	558						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCCTGGGGAACTCCGGGTCAG	0.567													91	188					0	0	0	0	T	138714833	C	T	138714833	2	4	474	1	0	0	0	0	0	0	0	1	2636	564	20	4		4	CAMSAP1	9	138714833	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	2768412	138714833	2498598	58	91352											
SEC16A	9919	broad.mit.edu	37	chr9	139369942	139369942	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggcccctgggtcctggctGaaggcctcttctcgggtgct	2	10	15	14	2	2	1	0	1	2	0	4	1	3	1	4	5	1	2	4	5	1	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:139369942G>C	ENST00000313050.7	-	1	2199	c.2126C>G	c.(2125-2127)tCa>tGa	p.S709*	SEC16A_ENST00000431893.2_Nonsense_Mutation_p.S531*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.S531*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.S531*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	531					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTCCTGGCTGAAGGCCTCTT	0.617													3	33					0	0	0	0	C	139369942	G	C	139369942	4	2	474	1	0	0	0	0	0	1	0	0	14073	1294	45	2	5067	2	SEC16A	9	139369942	Nonsense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	655109	139369942	1843489	59	91353											
C9orf37	85026	broad.mit.edu	37	chr9	140510167	140510167	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgtggacctcccctgctGagaaacccgctggcgcgtgg	5	8	15	13	3	0	1	0	1	0	1	1	3	1	2	4	4	2	2	4	4	1	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:140510167G>C	ENST00000371417.3	-	3	1025	c.485C>G	c.(484-486)tCa>tGa	p.S162*		NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	162										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CTCCCCTGCTGAGAAACCCGC	0.642													8	43					0	0	0	0	C	140510167	G	C	140510167	4	2	474	1	0	0	0	0	0	1	0	0	2504	1294	45	2	49	2	C9orf37	9	140510167	Nonsense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	1140225	140510167	703264	60	91354											
NET1	10276	broad.mit.edu	37	chr10	5498681	5498681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattgcccccttccagtcGgcaggcagtccacctgagct	6	8	10	17	1	0	1	0	1	0	0	3	1	2	1	6	2	2	3	6	2	0	2	rs139773413		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:5498681G>A	ENST00000355029.4	+	12	1657	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	NET1_ENST00000380359.3_Silent_p.S451S|NET1_ENST00000542715.1_Silent_p.S324S	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	505					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCTTCCAGTCGGCAGGCAGTC	0.612													29	75					0	0	0	0	A	5498681	G	A	5498681	2	1	474	1	0	0	0	0	0	0	0	1	10408	1103	39	1		1	NET1	10	5498681	Silent	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08		5498681	130036066	61	91355											
ARL5B	221079	broad.mit.edu	37	chr10	18963007	18963007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaaatacctcacccttaGttcaattaaggatcatccat	13	12	4	12	1	3	0	3	0	0	0	5	2	4	1	3	1	1	1	3	1	5	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:18963007G>C	ENST00000377275.3	+	5	667	c.434G>C	c.(433-435)aGt>aCt	p.S145T		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	145					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						CTCACCCTTAGTTCAATTAAG	0.433													5	46					0	0	0	0	C	18963007	G	C	18963007	3	2	474	1	0	0	0	0	1	0	0	0	944	1029	36	4	452	4	ARL5B	10	18963007	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	13464326	18963007	116571740	62	91356											
YME1L1	10730	broad.mit.edu	37	chr10	27412521	27412521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccacacccacaaacatctCatcaaattcggatccagaag	15	7	4	15	1	2	1	2	0	1	1	6	2	4	2	3	1	1	0	3	1	3	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:27412521C>T	ENST00000326799.3	-	11	1376	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	YME1L1_ENST00000376016.3_Missense_Mutation_p.E353K|YME1L1_ENST00000375972.3_Missense_Mutation_p.E320K|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	410					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACAAACATCTCATCAAATTCG	0.443													30	166					0	0	0	0	T	27412521	C	T	27412521	3	4	474	1	0	0	0	0	1	0	0	0	17583	835	29	2	1133	2	YME1L1	10	27412521	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	8449514	27412521	108122226	63	91357											
SGMS1	259230	broad.mit.edu	37	chr10	52067886	52067886	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccagcaaatccagtgataCcaccagagtcgccgagggga	13	4	12	12	2	0	2	0	1	0	1	2	4	1	3	5	2	3	1	5	2	2	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:52067886C>T	ENST00000361781.2	-	10	1877	c.918G>A	c.(916-918)tgG>tgA	p.W306*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.W137*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	312					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TCCAGTGATACCACCAGAGTC	0.468													16	70					0	0	0	0	T	52067886	C	T	52067886	4	4	474	1	0	0	0	0	0	1	0	0	14301	508	18	4	331	4	SGMS1	10	52067886	Nonsense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	24655365	52067886	83466861	64	91358											
PLAU	5328	broad.mit.edu	37	chr10	75671331	75671331	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgagagccctgctggcGcgcctgcttctctgcgtcct	4	10	11	16	3	1	1	0	1	1	1	3	2	2	1	4	1	4	2	4	1	0	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:75671331G>T	ENST00000372764.3	+	2	111	c.18G>T	c.(16-18)gcG>gcT	p.A6A	PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_3'UTR|C10orf55_ENST00000409178.1_3'UTR|PLAU_ENST00000446342.1_5'UTR|PLAU_ENST00000372762.4_Silent_p.A6A	NM_002658.3	NP_002649.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	6					blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CCCTGCTGGCGCGCCTGCTTC	0.632													4	35					0.014758	0.0149391	1	0	T	75671331	G	T	75671331	2	4	474	1	0	0	0	0	0	0	0	1	12094	1074	38	3		3	PLAU	10	75671331	Silent	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	23603445	75671331	59863416	65	91359											
EXOC6	54536	broad.mit.edu	37	chr10	94757357	94757357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcagtttaacttagatGtcatacagtgtgaatgtaag	13	14	9	5	0	2	2	2	1	0	1	2	2	2	2	0	0	3	3	0	0	5	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:94757357G>A	ENST00000371552.4	+	19	2094	c.2065G>A	c.(2065-2067)Gtc>Atc	p.V689I	EXOC6_ENST00000260762.6_Missense_Mutation_p.V694I|EXOC6_ENST00000371547.4_Missense_Mutation_p.V710I|EXOC6_ENST00000443748.2_Missense_Mutation_p.V591I	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	694					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAACTTAGATGTCATACAGTG	0.348													12	45					0	0	0	0	A	94757357	G	A	94757357	3	1	474	1	0	0	0	0	1	0	0	0	5345	1377	48	4	2244	4	EXOC6	10	94757357	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	19086026	94757357	40777390	66	91360											
CALHM2	51063	broad.mit.edu	37	chr10	105207066	105207066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgtggccgtggctgcGtgccttccactgggaagttg	4	11	14	12	2	0	0	0	0	0	0	2	1	2	1	4	3	2	2	4	3	1	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:105207066G>A	ENST00000260743.5	-	4	1338	c.815C>T	c.(814-816)aCg>aTg	p.T272M	CALHM2_ENST00000369788.3_Missense_Mutation_p.T272M	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	272						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTGGCTGCGTGCCTTCCAC	0.597													44	77					0	0	0	0	A	105207066	G	A	105207066	3	1	474	1	0	0	0	0	1	0	0	0	2608	1145	40	1	160	1	CALHM2	10	105207066	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	10449709	105207066	30327681	67	91361											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798775	119798775	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttcgctgctttcttcaaAtggatttttcttccttggca	5	20	7	9	1	3	0	1	0	2	0	5	1	4	1	1	2	1	4	1	2	1	7			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:119798775A>C	ENST00000355624.3	-	3	1412	c.973T>G	c.(973-975)Ttt>Gtt	p.F325V	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.F325V	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	325					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CTTTCTTCAAATGGATTTTTC	0.348													5	58					0	0	0	0	C	119798775	A	C	119798775	3	2	474	1	0	0	0	0	1	0	0	0	12976	101	4	5	577	5	RAB11FIP2	10	119798775	Missense_Mutation	SNP	A	TCGA-QK-A6IG-01A-11D-A31L-08	14591709	119798775	15735972	68	91362											
CARS	833	broad.mit.edu	37	chr11	3022357	3022357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccccctcactggaagcttCcattctgggccatctgcaga	7	10	9	15	0	3	1	1	0	2	1	4	2	4	2	4	2	3	2	4	2	1	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:3022357C>G	ENST00000397114.3	-	23	2580	c.2204G>C	c.(2203-2205)gGa>gCa	p.G735A	CARS_ENST00000278224.9_3'UTR|CARS_ENST00000397111.5_Missense_Mutation_p.G745A|CARS_ENST00000380525.4_Missense_Mutation_p.G828A|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000470221.2_5'UTR			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	745					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTGGAAGCTTCCATTCTGGGC	0.517			T	ALK	ALCL								18	103					0	0	0	0	G	3022357	C	G	3022357	3	3	474	1	0	0	0	0	1	0	0	0	2682	855	30	2	16	2	CARS	11	3022357	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		3022357	131984159	69	91363											
OR52M1	119772	broad.mit.edu	37	chr11	4567367	4567367	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaggatagaaatgaagaTtagatgattactattttctt	16	14	7	4	0	1	5	0	2	1	3	1	6	1	6	1	1	1	0	1	1	7	7			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:4567367T>A	ENST00000360213.1	+	1	947	c.947T>A	c.(946-948)aTt>aAt	p.I316N		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAATGAAGATTAGATGATTA	0.403													7	24					0	0	0	0	A	4567367	T	A	4567367	3	1	474	1	0	0	0	0	1	0	0	0	11197	1493	52	5	949	5	OR52M1	11	4567367	Missense_Mutation	SNP	T	TCGA-QK-A6IG-01A-11D-A31L-08	1545010	4567367	130439149	70	91364											
SBF2	81846	broad.mit.edu	37	chr11	9810760	9810760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagcttctccagccaggtCagagtcttcggaggggaagt	8	8	13	12	1	3	1	1	0	2	1	5	3	3	3	3	4	2	1	3	4	1	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:9810760C>T	ENST00000256190.8	-	35	4965	c.4828G>A	c.(4828-4830)Gac>Aac	p.D1610N	SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1610					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCAGCCAGGTCAGAGTCTTCG	0.542													37	65					0	0	0	0	T	9810760	C	T	9810760	3	4	474	1	0	0	0	0	1	0	0	0	13945	826	29	2	745	2	SBF2	11	9810760	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	5243393	9810760	125195756	71	91365											
PIK3C2A	5286	broad.mit.edu	37	chr11	17113797	17113797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacatcttttatgtgtgttCttcctagaaccatcctatta	9	18	4	10	0	2	1	0	0	2	1	4	1	4	1	3	0	2	1	3	0	6	8			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:17113797C>T	ENST00000265970.7	-	28	4477	c.4478G>A	c.(4477-4479)aGa>aAa	p.R1493K	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R1113K	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1493	Interaction with PtdIns(4,5)P2-containing membranes.|PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TATGTGTGTTCTTCCTAGAAC	0.318													8	42					0	0	0	0	T	17113797	C	T	17113797	3	4	474	1	0	0	0	0	1	0	0	0	11981	913	32	2	602	2	PIK3C2A	11	17113797	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	7303037	17113797	117892719	72	91366											
CAT	847	broad.mit.edu	37	chr11	34473710	34473710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatggtaactgggatctcGttggaaataacacccccatt	13	10	9	9	1	1	1	0	0	1	1	2	3	1	3	2	3	2	2	2	3	4	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:34473710G>A	ENST00000241052.4	+	4	525	c.436G>A	c.(436-438)Gtt>Att	p.V146I		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	146					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTGGGATCTCGTTGGAAATAA	0.403													33	30					0	0	0	0	A	34473710	G	A	34473710	3	1	474	1	0	0	0	0	1	0	0	0	2711	1145	40	1	450	1	CAT	11	34473710	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	17359913	34473710	100532806	73	91367											
SPI1	6688	broad.mit.edu	37	chr11	47380496	47380496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcgccctcctcctcatctGagctgggctgggctggggac	3	9	14	15	1	2	1	1	1	1	0	5	2	4	2	3	4	1	4	3	4	0	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:47380496G>A	ENST00000378538.3	-	4	614	c.392C>T	c.(391-393)tCa>tTa	p.S131L	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.S131L|SPI1_ENST00000227163.4_Missense_Mutation_p.S132L	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	131					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCTCATCTGAGCTGGGCTG	0.692													5	12					0	0	0	0	A	47380496	G	A	47380496	3	1	474	1	0	0	0	0	1	0	0	0	15139	1294	45	2	428	2	SPI1	11	47380496	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	12906786	47380496	87626020	74	91368											
TMEM132A	54972	broad.mit.edu	37	chr11	60699312	60699312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatggtgtgggaaatcCtggtgtctgagcgggacatc	11	9	14	7	1	1	1	0	1	1	0	3	3	2	3	1	4	1	0	1	4	3	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:60699312C>T	ENST00000005286.4	+	6	1324	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	TMEM132A_ENST00000453848.2_Silent_p.L390L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	390						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTGGGAAATCCTGGTGTCTGA	0.627													23	110					0	0	0	0	T	60699312	C	T	60699312	2	4	474	1	0	0	0	0	0	0	0	1	16139	680	24	4		4	TMEM132A	11	60699312	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	13318816	60699312	74307204	75	91369											
LRP6	4040	broad.mit.edu	37	chr12	12419613	12419613	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcccccactcttcccAcctctcaggagcacacagaa	10	6	6	19	0	2	1	1	0	2	1	4	2	3	2	5	1	2	1	5	1	1	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:12419613A>G	ENST00000261349.4	-	1	132		c.e1+1		LRP6_ENST00000543091.1_Splice_Site	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6						cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACTCTTCCCACCTCTCAGGA	0.642													5	26					0	0	0	0	G	12419613	A	G	12419613	5	3	474	1	0	0	0	0	0	0	1	0	9026	173	6	5	4876	5	LRP6	12	12419613	Splice_Site	SNP	A	TCGA-QK-A6IG-01A-11D-A31L-08		12419613	121432282	76	91370											
DAZAP2	9802	broad.mit.edu	37	chr12	51634129	51634129	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttcttgtctttcaggtCaatatccaacacagccaacc	10	15	4	12	0	4	0	2	0	2	0	5	0	5	0	3	1	3	0	3	1	4	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:51634129C>T	ENST00000412716.3	+	2	632	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	DAZAP2_ENST00000549555.1_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000449723.3_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000425012.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000439799.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549732.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000604900.1_Nonsense_Mutation_p.Q6*			Q15038	DAZP2_HUMAN	DAZ associated protein 2	6							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						TCTTTCAGGTCAATATCCAAC	0.493													9	79					0	0	0	0	T	51634129	C	T	51634129	4	4	474	1	0	0	0	0	0	1	0	0	4278	827	29	2	22	2	DAZAP2	12	51634129	Nonsense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	39214516	51634129	82217766	77	91371											
ERBB3	2065	broad.mit.edu	37	chr12	56481628	56481628	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcactgctttgggccCaaccccaaccagtgctgcca	9	8	9	15	0	1	0	1	0	0	0	1	0	1	0	5	2	5	2	5	2	3	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:56481628C>G	ENST00000267101.3	+	6	1103	c.663C>G	c.(661-663)ccC>ccG	p.P221P	ERBB3_ENST00000415288.2_Silent_p.P162P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	221					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCTTTGGGCCCAACCCCAACC	0.542													25	88					0	0	0	0	G	56481628	C	G	56481628	2	3	474	1	0	0	0	0	0	0	0	1	5246	581	21	4		4	ERBB3	12	56481628	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	4847499	56481628	77370267	78	91372											
BBS10	79738	broad.mit.edu	37	chr12	76741101	76741101	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccagtgacaccaacatTcaactctacaaaatggtcat	16	8	6	11	0	3	1	2	1	1	0	3	1	3	1	2	2	3	0	2	2	6	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:76741101T>G	ENST00000393262.3	-	2	747	c.664A>C	c.(664-666)Aat>Cat	p.N222H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	222					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ACACCAACATTCAACTCTACA	0.403									Bardet-Biedl syndrome				8	19					0	0	0	0	G	76741101	T	G	76741101	3	3	474	1	0	0	0	0	1	0	0	0	1340	1783	62	5	1511	5	BBS10	12	76741101	Missense_Mutation	SNP	T	TCGA-QK-A6IG-01A-11D-A31L-08	20259473	76741101	57110794	79	91373											
SRRM4	84530	broad.mit.edu	37	chr12	119568489	119568489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccatccccaggcaccgCggccggtcccctgaggaagg	6	4	12	19	3	0	1	0	1	0	0	3	2	3	2	8	5	0	1	8	5	1	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:119568489C>T	ENST00000267260.4	+	8	1009	c.621C>T	c.(619-621)cgC>cgT	p.R207R	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	207	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGGCACCGCGGCCGGTCCC	0.627													5	26					0	0	0	0	T	119568489	C	T	119568489	2	4	474	1	0	0	0	0	0	0	0	1	15261	755	27	1		1	SRRM4	12	119568489	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	42827388	119568489	14283406	80	91374											
VPS33A	65082	broad.mit.edu	37	chr12	122745861	122745861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccccatcgaatggaatgaGatctaagctgtactcctccc	11	10	7	13	1	1	1	0	1	1	1	5	4	4	2	4	1	2	2	4	1	4	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:122745861G>A	ENST00000267199.4	-	4	542	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L144F|VPS33A_ENST00000451053.2_Missense_Mutation_p.L144F|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	144					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATGGAATGAGATCTAAGCTG	0.453													31	45					0	0	0	0	A	122745861	G	A	122745861	3	1	474	1	0	0	0	0	1	0	0	0	17297	942	33	2	1400	2	VPS33A	12	122745861	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	3177372	122745861	11106034	81	91375											
SLITRK5	26050	broad.mit.edu	37	chr13	88328729	88328729	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaactatggccccagcatCgcctatcagaccaaatcccc	12	6	6	17	1	1	1	1	0	0	1	3	1	2	1	6	1	3	2	6	1	4	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr13:88328729C>A	ENST00000325089.6	+	2	1305	c.1086C>A	c.(1084-1086)atC>atA	p.I362I	SLITRK5_ENST00000400028.3_Silent_p.I121I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	362						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCAGCATCGCCTATCAGA	0.612													9	71					7.48243e-07	7.66833e-07	1	0	A	88328729	C	A	88328729	2	1	474	1	0	0	0	0	0	0	0	1	14834	874	31	3		3	SLITRK5	13	88328729	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		88328729	26841149	82	91376											
NFATC4	4776	broad.mit.edu	37	chr14	24845619	24845619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccccctacccctcctatCcccatgaagaccctgcttgc	6	8	6	21	0	0	2	0	1	0	1	2	2	2	2	9	1	3	1	9	1	3	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:24845619C>A	ENST00000413692.2	+	10	2509	c.2365C>A	c.(2365-2367)Ccc>Acc	p.P789T	NFATC4_ENST00000554050.1_Missense_Mutation_p.P726T|NFATC4_ENST00000555393.1_Missense_Mutation_p.P14T|NFATC4_ENST00000554473.1_Missense_Mutation_p.P261T|NFATC4_ENST00000556279.1_Missense_Mutation_p.P758T|NFATC4_ENST00000554591.1_Missense_Mutation_p.P789T|NFATC4_ENST00000539237.2_Missense_Mutation_p.P758T|NFATC4_ENST00000250373.4_Missense_Mutation_p.P726T|NFATC4_ENST00000554661.1_Missense_Mutation_p.P656T|NFATC4_ENST00000553708.1_Missense_Mutation_p.P726T|NFATC4_ENST00000424781.2_Missense_Mutation_p.P739T|NFATC4_ENST00000555590.1_Missense_Mutation_p.P739T|NFATC4_ENST00000422617.3_Missense_Mutation_p.P714T|NFATC4_ENST00000555453.1_Missense_Mutation_p.P714T|NFATC4_ENST00000554344.1_Missense_Mutation_p.P656T|NFATC4_ENST00000554966.1_Missense_Mutation_p.P739T|NFATC4_ENST00000553879.1_Missense_Mutation_p.P656T|NFATC4_ENST00000556169.1_Missense_Mutation_p.P714T|NFATC4_ENST00000557767.1_Missense_Mutation_p.P14T|NFATC4_ENST00000555802.1_Missense_Mutation_p.P14T|NFATC4_ENST00000557451.1_Missense_Mutation_p.P656T|NFATC4_ENST00000553469.1_Missense_Mutation_p.P758T|NFATC4_ENST00000555167.1_Missense_Mutation_p.P261T|NFATC4_ENST00000556759.1_Missense_Mutation_p.P261T	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	726	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCCTCCTATCCCCATGAAGA	0.607													15	116					0.0383953	0.0386294	1	0	A	24845619	C	A	24845619	3	1	474	1	0	0	0	0	1	0	0	0	10435	855	30	2	2403	2	NFATC4	14	24845619	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		24845619	82503921	83	91377											
PSMC6	5706	broad.mit.edu	37	chr14	53185712	53185712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggtggtcgtcggttttctGagggtacttcagctgacaga	7	13	14	7	2	2	3	1	2	1	1	4	3	2	3	0	4	2	3	0	4	2	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:53185712G>A	ENST00000445930.2	+	10	781	c.775G>A	c.(775-777)Gag>Aag	p.E259K	PSMC6_ENST00000606149.1_Missense_Mutation_p.E245K			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TCGGTTTTCTGAGGGTACTTC	0.348													16	70					0	0	0	0	A	53185712	G	A	53185712	3	1	474	1	0	0	0	0	1	0	0	0	12770	1291	45	2	813	2	PSMC6	14	53185712	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	28340093	53185712	54163828	84	91378											
GMFB	2764	broad.mit.edu	37	chr14	54950435	54950435	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcgaaaacgaaactttctCagcttttccactaaatcttc	12	14	4	11	2	2	0	1	0	2	0	5	2	3	0	1	0	4	1	1	0	5	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:54950435C>G	ENST00000554908.1	-	2	151	c.54G>C	c.(52-54)ctG>ctC	p.L18L	GMFB_ENST00000358056.3_Silent_p.L18L|GMFB_ENST00000553566.1_5'UTR			P60983	GMFB_HUMAN	glia maturation factor, beta	18	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						GAAACTTTCTCAGCTTTTCCA	0.323													7	23					0	0	0	0	G	54950435	C	G	54950435	2	3	474	1	0	0	0	0	0	0	0	1	6540	813	29	2		2	GMFB	14	54950435	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	1764723	54950435	52399105	85	91379											
SLC8A3	6547	broad.mit.edu	37	chr14	70633987	70633987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctcatcggtgtgcacctCgctcatgctggaggccttct	5	11	12	13	2	3	0	2	0	1	0	5	1	3	1	2	4	2	4	2	4	0	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:70633987C>T	ENST00000381269.2	-	2	1906	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E385K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E385K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E385K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E385K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	385					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGTGCACCTCGCTCATGCTG	0.512													59	100					0	0	0	0	T	70633987	C	T	70633987	3	4	474	1	0	0	0	0	1	0	0	0	14796	893	31	1	1769	1	SLC8A3	14	70633987	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	15683552	70633987	36715553	86	91380											
ADAM20	8748	broad.mit.edu	37	chr14	70990093	70990093	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtctacataaagttcctGatggcagaaatttgcagtct	11	14	9	7	0	2	2	0	1	2	1	3	2	3	2	1	1	2	4	1	1	4	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:70990093G>C	ENST00000256389.3	-	2	1776	c.1532C>G	c.(1531-1533)tCa>tGa	p.S511*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	461	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TAAAGTTCCTGATGGCAGAAA	0.458													23	121					0	0	0	0	C	70990093	G	C	70990093	4	2	474	1	0	0	0	0	0	1	0	0	242	1294	45	2	802	2	ADAM20	14	70990093	Nonsense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	356106	70990093	36359447	87	91381											
AHNAK2	113146	broad.mit.edu	37	chr14	105412777	105412777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcctccaccttcggcgcaGacacatccaccgagacctca	9	5	8	19	4	1	2	1	0	0	2	4	3	3	2	6	2	0	1	6	2	0	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:105412777G>C	ENST00000333244.5	-	7	9130	c.9011C>G	c.(9010-9012)tCt>tGt	p.S3004C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3004						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTCGGCGCAGACACATCCAC	0.592													91	436					0	0	0	0	C	105412777	G	C	105412777	3	2	474	1	0	0	0	0	1	0	0	0	415	942	33	2	8380	2	AHNAK2	14	105412777	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	34422684	105412777	1936763	88	91382											
OCA2	4948	broad.mit.edu	37	chr15	28090163	28090163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaatccctgcacacaCgacgtttgccgacgcgccaa	9	8	8	16	5	1	0	0	0	1	0	2	2	2	0	3	0	3	3	3	0	2	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:28090163C>T	ENST00000354638.3	-	23	2529	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	OCA2_ENST00000353809.5_Missense_Mutation_p.V768M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	792					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCTGCACACACGACGTTTGCC	0.403									Oculocutaneous Albinism				11	26					0	0	0	0	T	28090163	C	T	28090163	3	4	474	1	0	0	0	0	1	0	0	0	10886	536	19	1	150	1	OCA2	15	28090163	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		28090163	74441229	89	91383											
SRP14	6727	broad.mit.edu	37	chr15	40330554	40330554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctgcgggctcaaagccctCcacagtacccttctttggaa	8	10	9	14	1	3	0	1	0	2	0	4	1	4	1	3	2	3	2	3	2	3	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:40330554C>T	ENST00000267884.6	-	3	210	c.139G>A	c.(139-141)Gag>Aag	p.E47K	SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000559081.1_Missense_Mutation_p.E47K|SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	47					negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TCAAAGCCCTCCACAGTACCC	0.502													8	42					0	0	0	0	T	40330554	C	T	40330554	3	4	474	1	0	0	0	0	1	0	0	0	15243	864	30	2	283	2	SRP14	15	40330554	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	12240391	40330554	62200838	90	91384											
CYP11A1	1583	broad.mit.edu	37	chr15	74637401	74637401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttacactcaaaggcaaagcgGaacaggtcatcactgatgtc	14	8	9	10	1	3	1	3	1	0	0	4	2	3	2	0	3	3	1	0	3	4	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:74637401G>A	ENST00000358632.4	-	3	830	c.135C>T	c.(133-135)ttC>ttT	p.F45F	CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000268053.6_Silent_p.F203F|CYP11A1_ENST00000419019.2_Silent_p.F45F	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	203					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGGCAAAGCGGAACAGGTCAT	0.567													16	38					0	0	0	0	A	74637401	G	A	74637401	2	1	474	1	0	0	0	0	0	0	0	1	4176	1165	41	2		2	CYP11A1	15	74637401	Silent	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	34306847	74637401	27893991	91	91385											
PKD1	5310	broad.mit.edu	37	chr16	2143662	2143662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcacaggcgtcacagccggGctctctaccagggtgtcatc	7	8	11	15	2	4	0	3	0	1	0	6	0	4	0	2	3	2	1	2	3	1	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:2143662G>A	ENST00000262304.4	-	37	11107	c.10899C>T	c.(10897-10899)agC>agT	p.S3633S	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3632S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3633					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCACAGCCGGGCTCTCTACCA	0.642													3	8					0	0	0	0	A	2143662	G	A	2143662	2	1	474	1	0	0	0	0	0	0	0	1	12035	1194	42	4		4	PKD1	16	2143662	Silent	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08		2143662	88211091	92	91386											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25266692	25266692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccaagtggggagtgcttctCccggtgcacgggactgctga	6	9	15	11	2	1	1	0	1	1	0	3	3	2	3	2	4	3	3	2	4	1	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:25266692C>T	ENST00000328086.7	-	2	1224	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	141					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GAGTGCTTCTCCCGGTGCACG	0.567													8	16					0	0	0	0	T	25266692	C	T	25266692	3	4	474	1	0	0	0	0	1	0	0	0	17782	864	30	2	2506	2	ZKSCAN2	16	25266692	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	23123030	25266692	65088061	93	91387											
LRRC36	55282	broad.mit.edu	37	chr16	67397504	67397504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaacacagactcaaacaaaGgactttttattcccttcccc	13	12	3	13	0	1	1	1	0	0	1	3	2	3	2	3	1	2	0	3	1	4	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:67397504G>A	ENST00000329956.6	+	6	608	c.589G>A	c.(589-591)Gga>Aga	p.G197R	LRRC36_ENST00000435835.3_Missense_Mutation_p.G76R|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.G76R	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	197										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTCAAACAAAGGACTTTTTAT	0.403													21	35					0	0	0	0	A	67397504	G	A	67397504	3	1	474	1	0	0	0	0	1	0	0	0	9054	1001	35	4	639	4	LRRC36	16	67397504	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	42130812	67397504	22957249	94	91388											
ZNF23	7571	broad.mit.edu	37	chr16	71483481	71483481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgagttttgtatcaaagctGatggatttccccaatcctgt	10	14	8	9	1	1	1	1	1	0	0	3	3	3	2	3	1	1	3	3	1	3	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:71483481G>A	ENST00000393539.2	-	6	1260	c.447C>T	c.(445-447)atC>atT	p.I149I	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Silent_p.I91I|ZNF23_ENST00000357254.4_Silent_p.I149I|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Silent_p.I149I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.I91I	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TATCAAAGCTGATGGATTTCC	0.413													15	73					0	0	0	0	A	71483481	G	A	71483481	2	1	474	1	0	0	0	0	0	0	0	1	17878	1280	45	2		2	ZNF23	16	71483481	Silent	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	4085977	71483481	18871272	95	91389											
TP53	7157	broad.mit.edu	37	chr17	7577085	7577085	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcggagattctcttcctCtgtgcgccggtctctcccag	3	13	10	15	3	3	1	0	0	3	1	7	2	5	1	3	2	2	0	3	2	0	3	rs112431538		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:7577085C>A	ENST00000420246.2	-	8	985	c.853G>T	c.(853-855)Gag>Tag	p.E285*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E285*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E285*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E285*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E285*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562		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)			38	17					6.2361e-21	6.76946e-21	1	0	A	7577085	C	A	7577085	4	1	474	1	0	0	0	0	0	1	0	0	16476	922	32	2	433	2	TP53	17	7577085	Nonsense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		7577085	73618125	96	91390											
MYOCD	93649	broad.mit.edu	37	chr17	12655993	12655993	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgatctccccagcctcctCtgacctgtcagtcgctgggt	4	10	9	18	2	3	1	1	1	2	0	6	2	4	1	6	1	1	1	6	1	0	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:12655993C>G	ENST00000425538.1	+	10	1588	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	MYOCD_ENST00000343344.4_Missense_Mutation_p.S463C|MYOCD_ENST00000395988.1_Missense_Mutation_p.S367C	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	463	Ser-rich.				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			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)		CCAGCCTCCTCTGACCTGTCA	0.622													20	104					0	0	0	0	G	12655993	C	G	12655993	3	3	474	1	0	0	0	0	1	0	0	0	10157	913	32	2	1426	2	MYOCD	17	12655993	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	5078908	12655993	68539217	97	91391											
SLC46A1	113235	broad.mit.edu	37	chr17	26726702	26726702	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggggaaactgctggaactcGaggtgaggatcagccttttc	9	10	14	8	1	1	1	1	1	0	0	3	5	1	4	1	5	4	1	1	5	2	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:26726702G>C	ENST00000440501.1	-	6	1445	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	SLC46A1_ENST00000321666.5_Silent_p.L421L|SARM1_ENST00000457710.3_3'UTR|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	450					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GCTGGAACTCGAGGTGAGGAT	0.547													5	50					0	0	0	0	C	26726702	G	C	26726702	2	2	474	1	0	0	0	0	0	0	0	1	14732	1045	37	3		3	SLC46A1	17	26726702	Silent	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	14070709	26726702	54468508	98	91392											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334307	39334307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacacagcagctggggCggcagcaggtggtcctgcag	8	5	17	11	1	0	0	0	0	0	0	1	1	1	1	1	6	4	5	1	6	0	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:39334307C>T	ENST00000377726.2	-	1	153	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	37	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.657													54	81					0	0	0	0	T	39334307	C	T	39334307	3	4	474	1	0	0	0	0	1	0	0	0	8604	768	27	1	304	1	KRTAP4-2	17	39334307	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	12607605	39334307	41860903	99	91393											
JUP	3728	broad.mit.edu	37	chr17	39921284	39921284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagttacgcatgatctgcacGagggcctggggcccaccatt	8	9	12	12	2	1	1	0	1	1	0	1	2	1	1	3	3	2	3	3	3	2	3	rs146804895		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:39921284G>A	ENST00000393931.3	-	6	1063	c.945C>T	c.(943-945)ctC>ctT	p.L315L	JUP_ENST00000310706.5_Silent_p.L315L|JUP_ENST00000393930.1_Silent_p.L315L|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	315					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGATCTGCACGAGGGCCTGGG	0.542													11	86					0	0	0	0	A	39921284	G	A	39921284	2	1	474	1	0	0	0	0	0	0	0	1	8025	1045	37	1		1	JUP	17	39921284	Silent	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	586977	39921284	41273926	100	91394											
OSBPL7	114881	broad.mit.edu	37	chr17	45896398	45896398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcaaggtcaatgcgctggGcctttttgttgatggacatg	7	14	13	7	1	2	1	2	1	0	0	2	2	2	2	1	3	1	2	1	3	2	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:45896398G>T	ENST00000007414.3	-	5	514	c.323C>A	c.(322-324)gCc>gAc	p.A108D	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A108D	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	108	PH.				lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AATGCGCTGGGCCTTTTTGTT	0.562													6	79					0.00198382	0.00202056	1	0	T	45896398	G	T	45896398	3	4	474	1	0	0	0	0	1	0	0	0	11353	1203	42	4	2281	4	OSBPL7	17	45896398	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	5975114	45896398	35298812	101	91395											
HOXB13	10481	broad.mit.edu	37	chr17	46805632	46805632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagtctccgcggggtaCgcggccagggtggctgcctg	3	7	20	11	4	1	0	0	0	1	0	2	1	1	1	3	6	2	2	3	6	1	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:46805632C>T	ENST00000290295.7	-	1	908	c.324G>A	c.(322-324)gcG>gcA	p.A108A		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	108					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCGCGGGGTACGCGGCCAGGG	0.647													69	121					0	0	0	0	T	46805632	C	T	46805632	2	4	474	1	0	0	0	0	0	0	0	1	7350	523	19	1		1	HOXB13	17	46805632	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	909234	46805632	34389578	102	91396											
CACNA1G	8913	broad.mit.edu	37	chr17	48692763	48692763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccgactactcccgcttcCggctcctcgtccaccacttg	5	10	6	20	4	0	0	0	0	0	0	6	1	5	0	6	1	1	2	6	1	1	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:48692763C>T	ENST00000352832.5	+	25	5071	c.4699C>T	c.(4699-4701)Cgg>Tgg	p.R1567W	CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1544W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1601W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1556W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1583W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1549W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1567W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1560W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1608W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1578W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1556W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1601W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1567W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1578W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1601					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCCGCTTCCGGCTCCTCGT	0.622													16	48					0	0	0	0	T	48692763	C	T	48692763	3	4	474	1	0	0	0	0	1	0	0	0	2569	643	23	1	5174	1	CACNA1G	17	48692763	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	1887131	48692763	32502447	103	91397											
TEX2	55852	broad.mit.edu	37	chr17	62291075	62291075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgagaggatgggagacttaGaaggagaggacaatggggag	15	5	19	2	0	0	4	0	1	0	4	0	10	0	7	0	6	0	0	0	6	3	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:62291075G>C	ENST00000258991.3	-	2	587	c.503C>G	c.(502-504)tCt>tGt	p.S168C	TEX2_ENST00000583097.1_Missense_Mutation_p.S168C|TEX2_ENST00000584379.1_Missense_Mutation_p.S168C			Q8IWB9	TEX2_HUMAN	testis expressed 2	168					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGAGACTTAGAAGGAGAGGA	0.557													8	48					0	0	0	0	C	62291075	G	C	62291075	3	2	474	1	0	0	0	0	1	0	0	0	15875	942	33	2	2945	2	TEX2	17	62291075	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	13598312	62291075	18904135	104	91398											
FASN	2194	broad.mit.edu	37	chr17	80045999	80045999	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtacccctcaccagtcttGggcaggatggtggcctggtg	5	9	16	11	0	2	0	1	0	1	0	2	1	2	1	4	6	1	2	4	6	1	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:80045999G>C	ENST00000306749.2	-	17	2996	c.2778C>G	c.(2776-2778)ccC>ccG	p.P926P		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	926					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCAGTCTTGGGCAGGATGG	0.672													17	95					0	0	0	0	C	80045999	G	C	80045999	2	2	474	1	0	0	0	0	0	0	0	1	5728	1335	47	4		4	FASN	17	80045999	Silent	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	17754924	80045999	1149211	105	91399											
DCC	1630	broad.mit.edu	37	chr18	50912420	50912420	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttttctccagagtcaagTtcccattatgtaatctccct	8	17	5	11	0	3	1	1	0	2	1	6	1	4	1	3	0	0	3	3	0	3	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr18:50912420T>G	ENST00000442544.2	+	16	2983	c.2367T>G	c.(2365-2367)agT>agG	p.S789R	DCC_ENST00000581580.1_Missense_Mutation_p.S444R|DCC_ENST00000412726.1_Missense_Mutation_p.S637R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	789	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGAGTCAAGTTCCCATTATG	0.343													6	38					0	0	0	0	G	50912420	T	G	50912420	3	3	474	1	0	0	0	0	1	0	0	0	4314	1722	60	5	2429	5	DCC	18	50912420	Missense_Mutation	SNP	T	TCGA-QK-A6IG-01A-11D-A31L-08		50912420	27164828	106	91400											
PARD6G	84552	broad.mit.edu	37	chr18	77917940	77917940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttctgcaggacgcgcGgggcggggggacccacgaag	8	3	20	10	5	1	0	0	0	1	0	1	4	1	3	1	7	1	2	1	7	2	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr18:77917940G>A	ENST00000353265.3	-	3	1042	c.845C>T	c.(844-846)cCg>cTg	p.P282L	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	282					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CAGGACGCGCGGGGCGGGGGG	0.731													3	15					0	0	0	0	A	77917940	G	A	77917940	3	1	474	1	0	0	0	0	1	0	0	0	11518	1116	39	1	289	1	PARD6G	18	77917940	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	27005520	77917940	159308	107	91401											
MAP2K2	5605	broad.mit.edu	37	chr19	4110621	4110621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctcgcggatgatctggttCcggatggccggcttgatctc	5	11	14	11	4	2	2	0	2	2	0	5	4	3	4	2	5	1	3	2	5	0	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:4110621C>T	ENST00000262948.5	-	3	589	c.336G>A	c.(334-336)cgG>cgA	p.R112R	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.R15R	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	112	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTGGTTCCGGATGGCCG	0.602													12	58					0	0	0	0	T	4110621	C	T	4110621	2	4	474	1	0	0	0	0	0	0	0	1	9306	842	30	2		2	MAP2K2	19	4110621	Silent	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		4110621	55018362	108	91402											
OR7D4	125958	broad.mit.edu	37	chr19	9325150	9325150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagatggccacaaaccGgtcataggccatcacggcca	11	5	12	13	2	2	1	2	0	0	1	2	1	2	1	4	5	1	1	4	5	2	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9325150G>A	ENST00000308682.2	-	1	392	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GCCACAAACCGGTCATAGGCC	0.502													31	79					0	0	0	0	A	9325150	G	A	9325150	3	1	474	1	0	0	0	0	1	0	0	0	11291	1115	39	1	578	1	OR7D4	19	9325150	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	5214529	9325150	49803833	109	91403											
ZNF699	374879	broad.mit.edu	37	chr19	9406167	9406167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttatatgttttctctaGtgtgagttttcacatgcctt	8	20	6	7	0	2	1	1	1	1	0	3	1	2	1	1	0	1	2	1	0	3	9			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9406167G>A	ENST00000591998.1	-	6	2141	c.1913C>T	c.(1912-1914)aCt>aTt	p.T638I	ZNF699_ENST00000308650.3_Missense_Mutation_p.T638I			Q32M78	ZN699_HUMAN	zinc finger protein 699	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTTTCTCTAGTGTGAGTTTT	0.423													30	57					0	0	0	0	A	9406167	G	A	9406167	3	1	474	1	0	0	0	0	1	0	0	0	18196	1029	36	4	19	4	ZNF699	19	9406167	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	81017	9406167	49722816	110	91404											
ZNF846	162993	broad.mit.edu	37	chr19	9868341	9868341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcttttctcctgtgtgcGttcgcatgtgcatattaaga	8	15	10	8	2	1	1	0	0	1	1	3	1	1	1	1	1	2	4	1	1	3	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9868341G>A	ENST00000397902.2	-	6	1825	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCTGTGTGCGTTCGCATGTG	0.428													18	62					0	0	0	0	A	9868341	G	A	9868341	3	1	474	1	0	0	0	0	1	0	0	0	18285	1145	40	1	193	1	ZNF846	19	9868341	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	462174	9868341	49260642	111	91405											
FCGBP	8857	broad.mit.edu	37	chr19	40384065	40384065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagccctccacacaggggCcctcacatacggctggcgtc	7	5	12	17	2	1	0	1	0	0	0	3	0	2	0	3	5	2	2	3	5	1	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:40384065C>G	ENST00000221347.6	-	21	9552	c.9545G>C	c.(9544-9546)gGc>gCc	p.G3182A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3182	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGGGGCCCTCACATAC	0.647													35	125					0	0	0	0	G	40384065	C	G	40384065	3	3	474	1	0	0	0	0	1	0	0	0	5823	739	26	4	6736	4	FCGBP	19	40384065	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	30515724	40384065	18744918	112	91406											
ZNF546	339327	broad.mit.edu	37	chr19	40520952	40520952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaagatttttagtcGtcgctataatcttactcaac	11	15	8	7	2	2	1	1	0	1	1	4	2	2	2	0	1	2	1	0	1	6	6			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:40520952G>A	ENST00000347077.4	+	7	1991	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R566H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTTTTAGTCGTCGCTATAAT	0.353													12	26					0	0	0	0	A	40520952	G	A	40520952	3	1	474	1	0	0	0	0	1	0	0	0	18073	1145	40	1	1793	1	ZNF546	19	40520952	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	136887	40520952	18608031	113	91407											
SPTBN4	57731	broad.mit.edu	37	chr19	41025868	41025868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtggcggccagcgaggCgctgctggccgccgacggcg	4	4	18	15	8	0	0	0	0	0	0	1	2	0	0	3	5	2	2	3	5	0	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:41025868C>T	ENST00000352632.3	+	16	3550	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1155V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A1155V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1155					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAGCGAGGCGCTGCTGGCC	0.687													4	14					0	0	0	0	T	41025868	C	T	41025868	3	4	474	1	0	0	0	0	1	0	0	0	15211	768	27	1	3522	1	SPTBN4	19	41025868	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	504916	41025868	18103115	114	91408											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41800316	41800316	+	Frame_Shift_Del	DEL	C	C	-																															acatgcagcctccaacccttCcaagaagtacaacatcctgg																										TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:41800316delC	ENST00000392006.3	+	9	1513	c.1340delC	c.(1339-1341)tcfs	p.S447fs	HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.S447fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.S358fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.S333fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	447	Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCAACCCTTCCAAGAAGTAC	0.522													50	88	---	---	---	---					-	41800316	C	-	41800316	7	5	474	1	0	1	0	1	0	0	0	0	7324	855	30	0	1374	0	HNRNPUL1	19	41800316	Frame_Shift_Del	DEL	C	TCGA-QK-A6IG-01A-11D-A31L-08	774448	41800316	17328667	115	91409											
LIPE	3991	broad.mit.edu	37	chr19	42930446	42930446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtagtgtctgtgattccGagcactggttttctcatgtg	5	16	12	8	1	2	1	1	1	2	0	4	2	3	1	1	2	1	3	1	2	1	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:42930446G>A	ENST00000244289.4	-	1	1132	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	286					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGATTCCGAGCACTGGTT	0.438													4	187					0	0	0	0	A	42930446	G	A	42930446	3	1	474	1	0	0	0	0	1	0	0	0	8876	1057	37	1	2414	1	LIPE	19	42930446	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	1130130	42930446	16198537	116	91410											
ZNF45	7596	broad.mit.edu	37	chr19	44417669	44417669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccacactcctcacatttgTatggtttttctccggtgtga	6	16	7	12	1	2	1	1	1	1	0	5	1	4	1	3	2	0	2	3	2	1	4			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:44417669T>C	ENST00000269973.5	-	10	3009	c.1919A>G	c.(1918-1920)tAc>tGc	p.Y640C	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.Y640C	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	640					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTCACATTTGTATGGTTTTTC	0.468													12	111					0	0	0	0	C	44417669	T	C	44417669	3	2	474	1	0	0	0	0	1	0	0	0	18016	1638	57	5	133	5	ZNF45	19	44417669	Missense_Mutation	SNP	T	TCGA-QK-A6IG-01A-11D-A31L-08	1487223	44417669	14711314	117	91411											
UBE2M	9040	broad.mit.edu	37	chr19	59067527	59067527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcgctgcacgttctgctCaaacagccgccggttgttct	6	10	12	13	4	3	0	1	0	2	0	3	1	3	1	2	2	5	6	2	2	1	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:59067527C>T	ENST00000253023.3	-	6	1059	c.481G>A	c.(481-483)Gag>Aag	p.E161K		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	161					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACGTTCTGCTCAAACAGCCGC	0.637													28	58					0	0	0	0	T	59067527	C	T	59067527	3	4	474	1	0	0	0	0	1	0	0	0	16961	835	29	2	74	2	UBE2M	19	59067527	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	14649858	59067527	61456	118	91412											
SIRPB1	10326	broad.mit.edu	37	chr20	1558987	1558987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccacgctgtactcaccgcGcacagacagctcagtgcctg	8	6	10	17	3	2	1	2	0	0	1	2	1	2	1	3	0	3	4	3	0	1	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:1558987G>A	ENST00000381605.4	-	2	494	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552													21	185					0	0	0	0	A	1558987	G	A	1558987	3	1	474	1	0	0	0	0	1	0	0	0	14421	1087	38	1	782	1	SIRPB1	20	1558987	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08		1558987	61466533	119	91413											
PLCB4	5332	broad.mit.edu	37	chr20	9388585	9388585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggtcactgtagaagatGagcaggcgtggatggcatct	9	9	15	8	1	2	3	1	1	1	2	2	4	2	4	1	4	1	3	1	4	2	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:9388585G>A	ENST00000378501.2	+	18	1648	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E557K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E545K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E545K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E557K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E545K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	545					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						TGTAGAAGATGAGCAGGCGTG	0.428													26	98					0	0	0	0	A	9388585	G	A	9388585	3	1	474	1	0	0	0	0	1	0	0	0	12102	1291	45	2	1743	2	PLCB4	20	9388585	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	7829598	9388585	53636935	120	91414											
SPAG4	6676	broad.mit.edu	37	chr20	34205117	34205117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttctcccgaccctggatCtgaggcaggagatgcctccc	7	8	10	16	1	2	2	0	1	2	1	4	5	3	3	5	3	1	1	5	3	0	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:34205117C>G	ENST00000374273.3	+	2	476	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	122					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GACCCTGGATCTGAGGCAGGA	0.652													3	10					0	0	0	0	G	34205117	C	G	34205117	3	3	474	1	0	0	0	0	1	0	0	0	15070	912	32	2	370	2	SPAG4	20	34205117	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	24816532	34205117	28820403	121	91415											
PLCG1	5335	broad.mit.edu	37	chr20	39801217	39801217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggccagcgactggattcctCcaactacgatcctttgccca	8	9	9	15	2	0	0	0	0	0	0	3	3	3	1	5	2	4	0	5	2	2	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:39801217C>G	ENST00000373272.2	+	26	3467	c.3062C>G	c.(3061-3063)tCc>tGc	p.S1021C	PLCG1_ENST00000244007.3_Missense_Mutation_p.S1021C|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.S1021C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1021	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTGGATTCCTCCAACTACGAT	0.557													9	39					0	0	0	0	G	39801217	C	G	39801217	3	3	474	1	0	0	0	0	1	0	0	0	12107	855	30	2	3164	2	PLCG1	20	39801217	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	5596100	39801217	23224303	122	91416											
SS18L1	26039	broad.mit.edu	37	chr20	60737907	60737907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccacgcgggacccgcctCgcagggcgtccccatgcagg	6	3	14	18	5	0	0	0	0	0	0	2	1	1	1	5	3	2	2	5	3	0	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:60737907C>T	ENST00000331758.3	+	5	502	c.476C>T	c.(475-477)tCg>tTg	p.S159L	SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000421564.1_Missense_Mutation_p.S159L|SS18L1_ENST00000370848.4_Missense_Mutation_p.S162L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	159	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GGACCCGCCTCGCAGGGCGTC	0.652			T	SSX1	synovial sarcoma								26	50					0	0	0	0	T	60737907	C	T	60737907	3	4	474	1	0	0	0	0	1	0	0	0	15266	893	31	1	494	1	SS18L1	20	60737907	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	20936690	60737907	2287613	123	91417											
ZBTB46	140685	broad.mit.edu	37	chr20	62421836	62421836	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgagcgccaggtgcgctGagtacatgaagtcgatgatg	9	9	16	7	3	0	4	0	4	0	0	1	5	0	4	1	2	3	2	1	2	2	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:62421836G>C	ENST00000245663.4	-	2	425	c.275C>G	c.(274-276)tCa>tGa	p.S92*	ZBTB46_ENST00000302995.2_Nonsense_Mutation_p.S92*|ZBTB46_ENST00000395104.1_Nonsense_Mutation_p.S92*	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	92	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGGTGCGCTGAGTACATGAA	0.607													19	89					0	0	0	0	C	62421836	G	C	62421836	4	2	474	1	0	0	0	0	0	1	0	0	17642	1294	45	2	1510	2	ZBTB46	20	62421836	Nonsense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	1683929	62421836	603684	124	91418											
DGCR8	54487	broad.mit.edu	37	chr22	20074700	20074700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatgactttgacaacGatgtggatgctctgctggaa	10	11	13	7	1	1	2	0	2	1	0	1	6	1	5	0	3	4	3	0	3	2	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:20074700G>T	ENST00000351989.3	+	3	1165	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	DGCR8_ENST00000407755.1_Missense_Mutation_p.D246Y|DGCR8_ENST00000383024.2_Missense_Mutation_p.D246Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	246	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.			DDFDNDV -> VCWQPLL (in Ref. 6; AAF82263).	primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTTTGACAACGATGTGGATGC	0.537													41	125					3.4345e-17	3.65608e-17	1	0	T	20074700	G	T	20074700	3	4	474	1	0	0	0	0	1	0	0	0	4501	1058	37	3	742	3	DGCR8	22	20074700	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08		20074700	31229866	125	91419											
OSBP2	23762	broad.mit.edu	37	chr22	31266577	31266577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccctgacagagctggacGgcctcaagatcccatctgag	9	7	11	14	1	2	4	1	2	1	2	4	5	4	5	3	2	1	2	3	2	1	0			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:31266577G>A	ENST00000332585.6	+	3	1119	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	OSBP2_ENST00000446658.2_Missense_Mutation_p.G339S|OSBP2_ENST00000382310.3_Missense_Mutation_p.G339S|OSBP2_ENST00000407373.1_Missense_Mutation_p.G166S|OSBP2_ENST00000437268.2_Missense_Mutation_p.G81S|OSBP2_ENST00000403222.3_Missense_Mutation_p.G174S|OSBP2_ENST00000401475.1_5'UTR	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	339					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGAGCTGGACGGCCTCAAGAT	0.557													5	43					0	0	0	0	A	31266577	G	A	31266577	3	1	474	1	0	0	0	0	1	0	0	0	11345	1116	39	1	1025	1	OSBP2	22	31266577	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	11191877	31266577	20037989	126	91420											
GTPBP1	9567	broad.mit.edu	37	chr22	39124110	39124110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgagtacctgcacataGaccagcggctggtgttccgg	7	8	12	14	2	0	2	0	1	0	1	1	2	1	2	5	3	3	4	5	3	2	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:39124110G>C	ENST00000216044.5	+	10	1893	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	554					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTGCACATAGACCAGCGGCT	0.602													7	44					0	0	0	0	C	39124110	G	C	39124110	3	2	474	1	0	0	0	0	1	0	0	0	6928	942	33	2	1698	2	GTPBP1	22	39124110	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	7857533	39124110	12180456	127	91421											
EP300	2033	broad.mit.edu	37	chr22	41525914	41525914	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcacactgtgcatcttctCgacaaatcatttcacactgg	10	12	7	12	1	4	0	2	0	2	0	5	1	4	0	0	2	1	2	0	2	1	2			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:41525914C>T	ENST00000263253.7	+	5	2408	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	397					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCATCTTCTCGACAAATCAT	0.363			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				21	28					0	0	0	0	T	41525914	C	T	41525914	4	4	474	1	0	0	0	0	0	1	0	0	5186	876	31	1	1207	1	EP300	22	41525914	Nonsense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08	2401804	41525914	9778652	128	91422											
MOV10L1	54456	broad.mit.edu	37	chr22	50598162	50598162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctgatggatataaaggttgGatcagtagaggagtttcaag	13	12	13	3	0	3	2	2	1	1	1	3	5	3	5	0	4	0	3	0	4	5	5			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:50598162G>C	ENST00000262794.5	+	24	3355	c.3272G>C	c.(3271-3273)gGa>gCa	p.G1091A	MOV10L1_ENST00000545383.1_Missense_Mutation_p.G1091A|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G1071A|MOV10L1_ENST00000395852.1_Missense_Mutation_p.G218A|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G1091A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1091					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATAAAGGTTGGATCAGTAGAG	0.413													24	87					0	0	0	0	C	50598162	G	C	50598162	3	2	474	1	0	0	0	0	1	0	0	0	9789	1174	41	2	3419	2	MOV10L1	22	50598162	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	9072248	50598162	706404	129	91423											
GSPT2	23708	broad.mit.edu	37	chrX	51487158	51487158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagaggtggaaatggccCtagaagaatcatgggagcac	14	6	15	6	0	1	3	1	0	0	3	1	6	1	5	1	5	1	1	1	5	4	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:51487158C>G	ENST00000340438.4	+	1	678	c.436C>G	c.(436-438)Cta>Gta	p.L146V		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	146					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGAAATGGCCCTAGAAGAATC	0.507													9	3					0	0	0	0	G	51487158	C	G	51487158	3	3	474	1	0	0	0	0	1	0	0	0	6877	680	24	4	438	4	GSPT2	23	51487158	Missense_Mutation	SNP	C	TCGA-QK-A6IG-01A-11D-A31L-08		51487158	103783402	130	91424											
TAF1	6872	broad.mit.edu	37	chrX	70617222	70617222	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgcacgtttcgagatgaaGaggggaaagagtatgttcgc	12	9	14	6	4	0	4	0	1	0	3	3	6	0	5	0	2	0	4	0	2	3	3			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:70617222G>C	ENST00000449580.1	+	23	3574	c.3523G>C	c.(3523-3525)Gag>Cag	p.E1175Q	TAF1_ENST00000276072.3_Missense_Mutation_p.E1196Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E1196Q|TAF1_ENST00000373790.4_Missense_Mutation_p.E1175Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1175					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCGAGATGAAGAGGGGAAAGA	0.468													18	47					0	0	0	0	C	70617222	G	C	70617222	3	2	474	1	0	0	0	0	1	0	0	0	15604	943	33	2	3676	2	TAF1	23	70617222	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	19130064	70617222	84653338	131	91425											
RPS6KA6	27330	broad.mit.edu	37	chrX	83390119	83390119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatacagctttacttttctgGcttcaggtctctataaacaa	12	15	5	9	0	3	0	1	0	2	0	4	0	3	0	0	2	4	2	0	2	7	8			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:83390119G>A	ENST00000262752.2	-	7	608	c.601C>T	c.(601-603)Cca>Tca	p.P201S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P201S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	201	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACTTTTCTGGCTTCAGGTCT	0.363													3	5					0	0	0	0	A	83390119	G	A	83390119	3	1	474	1	0	0	0	0	1	0	0	0	13740	1203	42	4	1700	4	RPS6KA6	23	83390119	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	12772897	83390119	71880441	132	91426											
UTP14A	10813	broad.mit.edu	37	chrX	129060290	129060290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgattatcaatgagaagcGcaacatccacgcagctgctc	12	9	9	11	2	1	2	1	2	0	1	3	3	2	2	1	0	4	4	1	0	4	1			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:129060290G>A	ENST00000394422.3	+	14	2046	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R621H|UTP14A_ENST00000371042.3_Missense_Mutation_p.R505H|UTP14A_ENST00000371051.5_Missense_Mutation_p.R619H	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	673					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AATGAGAAGCGCAACATCCAC	0.458											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	35					0	0	0	0	A	129060290	G	A	129060290	3	1	474	1	0	0	0	0	1	0	0	0	17191	1087	38	1	2072	1	UTP14A	23	129060290	Missense_Mutation	SNP	G	TCGA-QK-A6IG-01A-11D-A31L-08	45670171	129060290	26210270	133	91427											
IFI44L	10964	broad.mit.edu	37	chr1	79107493	79107493	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgttacagccctgcatttGagataagttgccttgattct	9	14	9	9	1	1	2	0	2	1	1	1	3	1	2	2	0	5	3	2	0	2	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:79107493G>C	ENST00000370751.4	+	9	1537	c.1358G>C	c.(1357-1359)tGa>tCa	p.*453S	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Nonstop_Mutation_p.*195S	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	0						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCCTGCATTTGAGATAAGTTG	0.428													44	83					0	0	0	0	C	79107493	G	C	79107493	4	2	475	1	0	0	0	0	0	0	0	0	7571	1285	45	2	1388	2	IFI44L	1	79107493	Nonstop_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		79107493	170143128	1	91428											
GBP5	115362	broad.mit.edu	37	chr1	89735197	89735197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agctgctcattaaagttctcGatgaggcacatggggtctga	10	11	12	8	1	3	2	1	2	2	0	4	3	3	2	0	3	2	4	0	3	2	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:89735197G>C	ENST00000343435.5	-	3	578	c.42C>G	c.(40-42)atC>atG	p.I14M	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.I14M	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	14						plasma membrane	GTP binding|GTPase activity	p.I14I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAAAGTTCTCGATGAGGCACA	0.478													44	113					0	0	0	0	C	89735197	G	C	89735197	3	2	475	1	0	0	0	0	1	0	0	0	6326	1048	37	3	1758	3	GBP5	1	89735197	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	10627704	89735197	159515424	2	91429											
AMIGO1	57463	broad.mit.edu	37	chr1	110051072	110051072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagctgggccatgtcatCgaaggcgcaccggtccaccg	7	6	13	15	4	1	0	1	0	0	0	3	1	2	0	4	3	2	3	4	3	1	0			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:110051072C>T	ENST00000369864.4	-	2	812	c.463G>A	c.(463-465)Gat>Aat	p.D155N	AMIGO1_ENST00000369862.1_Missense_Mutation_p.D155N			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	155					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCCATGTCATCGAAGGCGCAC	0.542													51	73					0	0	0	0	T	110051072	C	T	110051072	3	4	475	1	0	0	0	0	1	0	0	0	575	884	31	1	1022	1	AMIGO1	1	110051072	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	20315875	110051072	139199549	3	91430											
OTUD7B	56957	broad.mit.edu	37	chr1	149916210	149916210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggatagtaaagtccccaGggtagccagtggaaaatgcc	13	6	14	8	0	0	0	0	0	0	0	1	3	1	2	4	3	2	2	4	3	6	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:149916210G>C	ENST00000369135.3	-	12	2372	c.2078C>G	c.(2077-2079)cCt>cGt	p.P693R		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	693					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAAGTCCCCAGGGTAGCCAGT	0.647													52	25					0	0	0	0	C	149916210	G	C	149916210	3	2	475	1	0	0	0	0	1	0	0	0	11390	1000	35	4	457	4	OTUD7B	1	149916210	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	39865138	149916210	99334411	4	91431											
CACYBP	27101	broad.mit.edu	37	chr1	174979205	174979205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaagccaaaggagacaCggaattttgagactttaaag	17	7	11	6	1	0	2	0	1	0	2	0	6	0	3	1	2	2	1	1	2	6	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:174979205C>T	ENST00000367681.2	+	6	1188	c.548C>T	c.(547-549)aCg>aTg	p.T183M	CACYBP_ENST00000367679.2_Missense_Mutation_p.T226M|CACYBP_ENST00000405362.1_Missense_Mutation_p.T183M	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	226	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.			T -> P (in Ref. 4; AAG23817).		beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AAAGGAGACACGGAATTTTGA	0.368													19	49					0	0	0	0	T	174979205	C	T	174979205	3	4	475	1	0	0	0	0	1	0	0	0	2589	536	19	1	699	1	CACYBP	1	174979205	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	25062995	174979205	74271416	5	91432											
KDM5B	10765	broad.mit.edu	37	chr1	202742292	202742292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttgtaggggttgagaattCgttcataatgccctctgata	10	14	11	6	1	2	2	1	2	1	1	3	3	2	2	1	2	1	4	1	2	4	7			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:202742292C>T	ENST00000367265.3	-	4	1694	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R177Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	177	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTTGAGAATTCGTTCATAATG	0.443													18	41					0	0	0	0	T	202742292	C	T	202742292	3	4	475	1	0	0	0	0	1	0	0	0	8186	884	31	1	4200	1	KDM5B	1	202742292	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	27763087	202742292	46508329	6	91433											
RYR2	6262	broad.mit.edu	37	chr1	237777572	237777572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catccacctgagctcctatgCcactgccaggctcatgatga	9	9	8	15	0	1	3	1	3	0	0	3	3	3	3	5	1	3	2	5	1	1	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:237777572C>T	ENST00000366574.2	+	37	5461	c.5144C>T	c.(5143-5145)gCc>gTc	p.A1715V	RYR2_ENST00000360064.6_Missense_Mutation_p.A1713V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1699V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1715	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTCCTATGCCACTGCCAGG	0.512													3	33					0	0	0	0	T	237777572	C	T	237777572	3	4	475	1	0	0	0	0	1	0	0	0	13854	739	26	4	5290	4	RYR2	1	237777572	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	35035280	237777572	11473049	7	91434											
OR2G3	81469	broad.mit.edu	37	chr1	247769658	247769658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctatggcaccataatctaCgtgtacctgcaacctagtga	11	12	7	11	1	2	1	0	1	2	0	2	1	2	1	3	1	4	3	3	1	6	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:247769658C>T	ENST00000320002.2	+	1	803	c.771C>T	c.(769-771)taC>taT	p.Y257Y	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	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y257*(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)			CCATAATCTACGTGTACCTGC	0.473													24	13					0	0	0	0	T	247769658	C	T	247769658	2	4	475	1	0	0	0	0	0	0	0	1	11070	547	19	1		1	OR2G3	1	247769658	Silent	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	9992086	247769658	1480963	8	91435											
CAD	790	broad.mit.edu	37	chr2	27448088	27448088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagcatgtggccccgagcGaggcagcaaattctcttgaa	11	7	13	10	2	1	2	0	1	1	1	2	5	1	2	2	2	3	3	2	2	2	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:27448088G>A	ENST00000264705.4	+	11	1759	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	CAD_ENST00000403525.1_Missense_Mutation_p.E533K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	533	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'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			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)	GGCCCCGAGCGAGGCAGCAAA	0.493													8	28					0	0	0	0	A	27448088	G	A	27448088	3	1	475	1	0	0	0	0	1	0	0	0	2590	1059	37	1	1639	1	CAD	2	27448088	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		27448088	215751285	9	91436											
IFT172	26160	broad.mit.edu	37	chr2	27680574	27680574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccttccattcctgggcctCgaggtagtggtactcagcct	5	12	11	13	1	1	0	1	0	0	0	4	1	3	0	5	3	3	2	5	3	2	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:27680574C>T	ENST00000260570.3	-	29	3263	c.3160G>A	c.(3160-3162)Gag>Aag	p.E1054K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1054					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCTGGGCCTCGAGGTAGTGG	0.582													21	30					0	0	0	0	T	27680574	C	T	27680574	3	4	475	1	0	0	0	0	1	0	0	0	7610	893	31	1	2169	1	IFT172	2	27680574	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	232486	27680574	215518799	10	91437											
RNF103	7844	broad.mit.edu	37	chr2	86831499	86831499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacattggtaagtttttaaTataatcagttggtatcagag	13	15	8	5	0	2	1	2	0	0	1	2	1	2	1	1	2	0	4	1	2	5	9			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:86831499T>C	ENST00000237455.4	-	4	2493	c.1525A>G	c.(1525-1527)Att>Gtt	p.I509V	AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	509					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AAGTTTTTAATATAATCAGTT	0.433													60	102					0	0	0	0	C	86831499	T	C	86831499	3	2	475	1	0	0	0	0	1	0	0	0	13508	1406	49	5	536	5	RNF103	2	86831499	Missense_Mutation	SNP	T	TCGA-QK-A6IH-01A-11D-A31L-08	59150925	86831499	156367874	11	91438											
SLC9A2	6549	broad.mit.edu	37	chr2	103321010	103321010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttttcattccagactttatCctacaacagacacagtctga	12	13	5	11	0	2	3	1	1	1	2	4	3	4	3	2	0	2	1	2	0	3	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:103321010C>T	ENST00000233969.2	+	10	1995	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	618						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGACTTTATCCTACAACAGA	0.418													16	47					0	0	0	0	T	103321010	C	T	103321010	3	4	475	1	0	0	0	0	1	0	0	0	14800	855	30	2	1891	2	SLC9A2	2	103321010	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	16489511	103321010	139878363	12	91439											
XIRP2	129446	broad.mit.edu	37	chr2	168100817	168100817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagaggtggaaggagttaCaagaggtgctgtagagttaa	15	9	15	2	0	0	3	0	0	0	3	0	5	0	5	0	4	2	4	0	4	7	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:168100817C>A	ENST00000409195.1	+	9	3004	c.2915C>A	c.(2914-2916)aCa>aAa	p.T972K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T750K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T972K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	797					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGGAGTTACAAGAGGTGCT	0.358													34	6					2.09667e-21	2.23801e-21	1	0	A	168100817	C	A	168100817	3	1	475	1	0	0	0	0	1	0	0	0	17526	478	17	4	2945	4	XIRP2	2	168100817	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	64779807	168100817	75098556	13	91440											
SEPT2	4735	broad.mit.edu	37	chr2	242265484	242265484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccccaatcaagttcaccGaaaatcagtgaaaaaaggtt	16	8	6	11	1	3	1	3	1	0	0	4	2	4	1	4	1	0	2	4	1	7	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:242265484G>A	ENST00000391973.2	+	3	614	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	SEPT2_ENST00000407971.1_5'UTR|SEPT2_ENST00000402092.2_Missense_Mutation_p.R29Q|SEPT2_ENST00000360051.3_Missense_Mutation_p.R29Q|SEPT2_ENST00000401990.1_Missense_Mutation_p.R29Q|SEPT2_ENST00000391971.2_Missense_Mutation_p.R29Q	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	29					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CAAGTTCACCGAAAATCAGTG	0.353													6	23					0	0	0	0	A	242265484	G	A	242265484	3	1	475	1	0	0	0	0	1	0	0	0	14151	1058	37	1	92	1	SEPT2	2	242265484	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	74164667	242265484	933889	14	91441											
LRRN1	57633	broad.mit.edu	37	chr3	3887743	3887743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataactgtggaaaccctttCagataaatacaagctaagta	17	10	7	7	0	1	1	1	0	0	1	1	3	1	2	1	1	4	2	1	1	8	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:3887743C>T	ENST00000319331.3	+	2	2179	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	473	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GAAACCCTTTCAGATAAATAC	0.438													40	32					0	0	0	0	T	3887743	C	T	3887743	3	4	475	1	0	0	0	0	1	0	0	0	9098	838	29	2	1420	2	LRRN1	3	3887743	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08		3887743	194134687	15	91442											
NCKIPSD	51517	broad.mit.edu	37	chr3	48719141	48719141	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctggtatagagcgtgTccagggaggtgctgctgact	7	10	17	7	1	0	2	0	1	0	1	1	4	1	4	1	4	4	4	1	4	2	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:48719141T>A	ENST00000294129.2	-	5	790	c.671A>T	c.(670-672)gAc>gTc	p.D224V	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D224V|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D217V	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	224	Pro-rich.|Ser/Thr-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGAGCGTGTCCAGGGAGGT	0.647													12	6					0	0	0	0	A	48719141	T	A	48719141	3	1	475	1	0	0	0	0	1	0	0	0	10295	1667	58	5	1533	5	NCKIPSD	3	48719141	Missense_Mutation	SNP	T	TCGA-QK-A6IH-01A-11D-A31L-08	44831398	48719141	149303289	16	91443											
FLNB	2317	broad.mit.edu	37	chr3	58062871	58062871	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcccgtgtgggaggatGaaggggatgatgatgccaag	10	7	17	7	1	0	3	0	3	0	0	0	6	0	6	3	4	2	0	3	4	2	0			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:58062871G>T	ENST00000357272.4	+	2	556	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	FLNB_ENST00000490882.1_Nonsense_Mutation_p.E131*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.E131*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.E131*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.E131*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.E131*			O75369	FLNB_HUMAN	filamin B, beta	131	Actin-binding.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGGGAGGATGAAGGGGATGA	0.527													48	20					2.64894e-19	2.79611e-19	1	0	T	58062871	G	T	58062871	4	4	475	1	0	0	0	0	0	1	0	0	5979	1291	45	2	397	2	FLNB	3	58062871	Nonsense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	9343730	58062871	139959559	17	91444											
A4GNT	51146	broad.mit.edu	37	chr3	137843680	137843680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccaggcgggatgcatccGagctgatgtggagccagttt	7	9	16	9	2	0	1	0	1	0	0	1	4	1	3	3	4	3	3	3	4	0	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:137843680G>A	ENST00000236709.3	-	3	650	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	150					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGATGCATCCGAGCTGATGTG	0.567													32	41					0	0	0	0	A	137843680	G	A	137843680	3	1	475	1	0	0	0	0	1	0	0	0	7	1059	37	1	577	1	A4GNT	3	137843680	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	79780809	137843680	60178750	18	91445											
P2RY13	53829	broad.mit.edu	37	chr3	151046793	151046793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttcattgcttccagtgtCacctgttaccaataaacata	11	14	6	10	0	2	0	2	0	0	0	3	0	3	0	3	0	3	3	3	0	5	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:151046793C>T	ENST00000325602.5	-	2	70	c.51G>A	c.(49-51)gtG>gtA	p.V17V	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	17						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CTTCCAGTGTCACCTGTTACC	0.393													43	77					0	0	0	0	T	151046793	C	T	151046793	2	4	475	1	0	0	0	0	0	0	0	1	11421	813	29	2		2	P2RY13	3	151046793	Silent	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	13203113	151046793	46975637	19	91446											
SENP2	59343	broad.mit.edu	37	chr3	185332487	185332487	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagaattgctcaggcaaaGagagggacagaagaacggac	19	3	13	6	1	1	4	1	0	0	4	1	7	1	6	0	3	2	2	0	3	6	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:185332487G>C	ENST00000296257.5	+	11	1309	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	SENP2_ENST00000545472.1_Missense_Mutation_p.E347Q|SENP2_ENST00000427465.2_Missense_Mutation_p.E181Q	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	357					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCAGGCAAAGAGAGGGACAG	0.438													18	36					0	0	0	0	C	185332487	G	C	185332487	3	2	475	1	0	0	0	0	1	0	0	0	14134	943	33	2	1111	2	SENP2	3	185332487	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	34285694	185332487	12689943	20	91447											
SEL1L3	23231	broad.mit.edu	37	chr4	25849151	25849151	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatcactgcagatacagaGatggaatgtctgatgaaata	16	10	9	6	0	2	4	1	2	1	2	2	6	2	5	0	1	2	1	0	1	5	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:25849151G>T	ENST00000399878.3	-	2	620	c.498C>A	c.(496-498)atC>atA	p.I166I	SEL1L3_ENST00000264868.5_Silent_p.I131I|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000502949.1_Silent_p.I13I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	166						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CAGATACAGAGATGGAATGTC	0.403													12	16					5.16669e-11	5.33517e-11	1	0	T	25849151	G	T	25849151	2	4	475	1	0	0	0	0	0	0	0	1	14099	932	33	2		2	SEL1L3	4	25849151	Silent	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		25849151	165305125	21	91448											
SLC10A4	201780	broad.mit.edu	37	chr4	48490503	48490503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcataatgaccggcactatGttaggacctgaactgctggc	10	11	10	10	1	1	2	1	2	0	0	1	3	1	3	2	3	2	3	2	3	4	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:48490503G>A	ENST00000273861.4	+	3	1080	c.861G>A	c.(859-861)atG>atA	p.M287I		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	287						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCGGCACTATGTTAGGACCTG	0.433													50	80					0	0	0	0	A	48490503	G	A	48490503	3	1	475	1	0	0	0	0	1	0	0	0	14464	1377	48	4	871	4	SLC10A4	4	48490503	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	22641352	48490503	142663773	22	91449											
IGJ	3512	broad.mit.edu	37	chr4	71522211	71522211	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctctgggtagcagtaacTatctgattatccagctccac	9	13	8	11	0	2	1	0	1	2	0	4	1	4	1	2	1	4	5	2	1	4	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:71522211T>A	ENST00000254801.4	-	4	484	c.315A>T	c.(313-315)atA>atT	p.I105I	IGJ_ENST00000543780.1_Silent_p.I121I|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	105					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAGCAGTAACTATCTGATTAT	0.418													14	26					0	0	0	0	A	71522211	T	A	71522211	2	1	475	1	0	0	0	0	0	0	0	1	7645	1512	53	5		5	IGJ	4	71522211	Silent	SNP	T	TCGA-QK-A6IH-01A-11D-A31L-08	23031708	71522211	119632065	23	91450											
SHROOM3	57619	broad.mit.edu	37	chr4	77661336	77661336	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctccagaacattcctgaGagtctgagaagacacagcag	13	8	9	11	0	2	4	0	2	2	4	5	6	4	4	2	0	2	1	2	0	2	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:77661336G>C	ENST00000296043.6	+	5	2963	c.2010G>C	c.(2008-2010)gaG>gaC	p.E670D		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	670					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACATTCCTGAGAGTCTGAGAA	0.597													55	85					0	0	0	0	C	77661336	G	C	77661336	3	2	475	1	0	0	0	0	1	0	0	0	14383	933	33	2	2028	2	SHROOM3	4	77661336	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	6139125	77661336	113492940	24	91451											
UNC5C	8633	broad.mit.edu	37	chr4	96091364	96091364	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctctcgtctggggggcAtccaggctgctacagagctt	5	10	14	12	1	2	1	0	0	2	1	4	1	3	1	2	5	3	4	2	5	1	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:96091364A>T	ENST00000453304.1	-	15	2919	c.2571T>A	c.(2569-2571)gaT>gaA	p.D857E		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	857	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGGGGGGCATCCAGGCTGC	0.597													83	139					0	0	0	0	T	96091364	A	T	96091364	3	4	475	1	0	0	0	0	1	0	0	0	17089	214	8	5	232	5	UNC5C	4	96091364	Missense_Mutation	SNP	A	TCGA-QK-A6IH-01A-11D-A31L-08	18430028	96091364	95062912	25	91452											
RIOK2	55781	broad.mit.edu	37	chr5	96503372	96503372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttttatttcttctaaaGcttgattgaattcagtcatt	9	19	5	8	0	4	2	2	2	2	0	4	2	4	2	1	0	1	1	1	0	4	9			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr5:96503372G>T	ENST00000283109.3	-	8	1264	c.1196C>A	c.(1195-1197)gCt>gAt	p.A399D	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.A399D	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	399	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTCTTCTAAAGCTTGATTGAA	0.373													33	13					1.30897e-18	1.36651e-18	1	0	T	96503372	G	T	96503372	3	4	475	1	0	0	0	0	1	0	0	0	13463	971	34	4	502	4	RIOK2	5	96503372	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		96503372	84411888	26	91453											
BTN2A1	11120	broad.mit.edu	37	chr6	26463495	26463495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggctctaagcccctcattTcaatgaggggccatgaagac	11	9	10	11	0	3	3	2	2	1	1	3	3	3	3	3	3	1	1	3	3	4	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:26463495T>C	ENST00000429381.1	+	4	666	c.454T>C	c.(454-456)Tca>Cca	p.S152P	BTN2A1_ENST00000312541.5_Missense_Mutation_p.S152P|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S152P|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S91P			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	152					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GCCCCTCATTTCAATGAGGGG	0.547													31	57					0	0	0	0	C	26463495	T	C	26463495	3	2	475	1	0	0	0	0	1	0	0	0	1569	1783	62	5	464	5	BTN2A1	6	26463495	Missense_Mutation	SNP	T	TCGA-QK-A6IH-01A-11D-A31L-08		26463495	144651572	27	91454											
ZBTB22	9278	broad.mit.edu	37	chr6	33283609	33283609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggctcactcagggtaCggacatcacttatgctgagg	8	9	14	10	1	3	1	3	1	0	0	3	2	3	2	0	5	2	3	0	5	2	2	rs147840428	by1000genomes	TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:33283609C>T	ENST00000431845.2	-	2	1236	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	ZBTB22_ENST00000418724.1_Missense_Mutation_p.R362H	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACTCAGGGTACGGACATCACT	0.577													57	76					0	0	0	0	T	33283609	C	T	33283609	3	4	475	1	0	0	0	0	1	0	0	0	17625	536	19	1	823	1	ZBTB22	6	33283609	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	6820114	33283609	137831458	28	91455											
MYO6	4646	broad.mit.edu	37	chr6	76572371	76572371	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgaagaaaatcgcctTccccagccaagtgatcaaca	14	8	8	11	1	1	3	1	2	0	1	3	4	2	4	4	1	2	0	4	1	5	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:76572371T>G	ENST00000369981.3	+	16	1884	c.1605T>G	c.(1603-1605)ctT>ctG	p.L535L	MYO6_ENST00000369977.3_Silent_p.L535L|MYO6_ENST00000369985.4_Silent_p.L535L|MYO6_ENST00000369975.1_Silent_p.L535L			Q9UM54	MYO6_HUMAN	myosin VI	535	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAATCGCCTTCCCCAGCCAA	0.353													24	13					0	0	0	0	G	76572371	T	G	76572371	2	3	475	1	0	0	0	0	0	0	0	1	10151	1770	62	5		5	MYO6	6	76572371	Silent	SNP	T	TCGA-QK-A6IH-01A-11D-A31L-08	43288762	76572371	94542696	29	91456											
PHIP	55023	broad.mit.edu	37	chr6	79655040	79655040	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcaatgacagctgatgacTttgaaagagtggacgccttt	11	11	11	8	1	1	5	1	4	0	1	1	6	1	6	1	1	1	2	1	1	2	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:79655040T>G	ENST00000275034.4	-	39	4972	c.4805A>C	c.(4804-4806)aAg>aCg	p.K1602T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1602					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGCTGATGACTTTGAAAGAGT	0.358													34	68					0	0	0	0	G	79655040	T	G	79655040	3	3	475	1	0	0	0	0	1	0	0	0	11914	1609	56	5	668	5	PHIP	6	79655040	Missense_Mutation	SNP	T	TCGA-QK-A6IH-01A-11D-A31L-08	3082669	79655040	91460027	30	91457											
C6orf165	154313	broad.mit.edu	37	chr6	88119576	88119576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgcctccaactcaggccGaaagtgttataaggagtatt	13	10	10	8	1	1	0	1	0	0	0	2	3	2	1	3	2	2	2	3	2	6	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:88119576G>A	ENST00000507897.1	+	2	102	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E7K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	7										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AACTCAGGCCGAAAGTGTTAT	0.333													19	38					0	0	0	0	A	88119576	G	A	88119576	3	1	475	1	0	0	0	0	1	0	0	0	2362	1059	37	1	21	1	C6orf165	6	88119576	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	8464536	88119576	82995491	31	91458											
HDAC2	3066	broad.mit.edu	37	chr6	114262884	114262885	+	Frame_Shift_Ins	INS	-	-	T																															catttaccctttggtatctgINSttttttcaccactgttgtcc																										TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:114262884_114262885insT	ENST00000519065.1	-	13	1799_1800	c.1423_1424insA	c.(1423-1425)agafs	p.R475fs	HDAC2_ENST00000368632.2_Frame_Shift_Ins_p.R445fs|HDAC2_ENST00000519108.1_Frame_Shift_Ins_p.R445fs|HDAC2_ENST00000398283.2_Frame_Shift_Ins_p.R569fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	475					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TTTGGTATCTGTTTTTTCACCA	0.282													7	14	---	---	---	---					T	114262885	-	T	114262884	7	5	475	1	0	1	1	0	0	0	0	0	7057	1377	48	0	50	0	HDAC2	6	114262884	Frame_Shift_Ins	INS	-	TCGA-QK-A6IH-01A-11D-A31L-08	26143308	114262884	56852183	32	91459											
L3MBTL3	84456	broad.mit.edu	37	chr6	130376371	130376371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagagagcacggaggaaaaGacgaggggattcggctgtac	13	4	17	7	3	0	2	0	0	0	2	1	7	0	5	0	5	2	4	0	5	3	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:130376371G>C	ENST00000529410.1	+	10	1117	c.638G>C	c.(637-639)aGa>aCa	p.R213T	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R188T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R213T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R188T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R213T|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R188T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	213					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CGGAGGAAAAGACGAGGGGAT	0.383													9	38					0	0	0	0	C	130376371	G	C	130376371	3	2	475	1	0	0	0	0	1	0	0	0	8646	942	33	2	660	2	L3MBTL3	6	130376371	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	16113487	130376371	40738696	33	91460											
GRM1	2911	broad.mit.edu	37	chr6	146351241	146351241	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgacctgagtgacaaaacTttgtacaaatacttcctgag	14	11	7	9	1	0	3	0	3	0	0	2	4	1	3	2	0	3	1	2	0	5	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:146351241T>C	ENST00000392299.2	+	2	1058	c.588T>C	c.(586-588)acT>acC	p.T196T	GRM1_ENST00000361719.2_Silent_p.T196T|GRM1_ENST00000282753.1_Silent_p.T196T|GRM1_ENST00000492807.2_Silent_p.T196T|GRM1_ENST00000507907.1_Silent_p.T196T|GRM1_ENST00000355289.4_Silent_p.T196T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	196					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTGACAAAACTTTGTACAAAT	0.493													48	78					0	0	0	0	C	146351241	T	C	146351241	2	2	475	1	0	0	0	0	0	0	0	1	6846	1596	56	5		5	GRM1	6	146351241	Silent	SNP	T	TCGA-QK-A6IH-01A-11D-A31L-08	15974870	146351241	24763826	34	91461											
NXPH1	30010	broad.mit.edu	37	chr7	8791292	8791292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgctccaagccctttaagGtgatctgtatttacatttcc	8	16	6	11	0	2	1	0	1	2	0	4	1	4	1	3	1	3	2	3	1	4	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr7:8791292G>A	ENST00000405863.1	+	3	1620	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.V120M	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	237	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GCCCTTTAAGGTGATCTGTAT	0.433													16	16					0	0	0	0	A	8791292	G	A	8791292	3	1	475	1	0	0	0	0	1	0	0	0	10861	1261	44	4	715	4	NXPH1	7	8791292	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		8791292	150347371	35	91462											
FERD3L	222894	broad.mit.edu	37	chr7	19184842	19184842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcctcctgggtcttccCtctcggagcgcaagggctgg	4	9	13	15	2	2	0	0	0	2	0	6	1	5	1	4	4	1	2	4	4	1	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr7:19184842C>G	ENST00000275461.3	-	1	202	c.144G>C	c.(142-144)gaG>gaC	p.E48D	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	48					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TGGGTCTTCCCTCTCGGAGCG	0.657													70	39					0	0	0	0	G	19184842	C	G	19184842	3	3	475	1	0	0	0	0	1	0	0	0	5861	680	24	4	360	4	FERD3L	7	19184842	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	10393550	19184842	139953821	36	91463											
CYP3A7	1551	broad.mit.edu	37	chr7	99308496	99308496	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagataattgattgggccatGagctccagatcagacagagc	14	8	11	8	0	1	6	1	2	0	4	2	6	2	6	2	1	2	1	2	1	2	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr7:99308496G>C	ENST00000336374.2	-	10	887	c.885C>G	c.(883-885)ctC>ctG	p.L295L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	295					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ATTGGGCCATGAGCTCCAGAT	0.413													23	40					0	0	0	0	C	99308496	G	C	99308496	2	2	475	1	0	0	0	0	0	0	0	1	4213	1277	45	2		2	CYP3A7	7	99308496	Silent	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	80123654	99308496	59830167	37	91464											
UBN2	254048	broad.mit.edu	37	chr7	138969205	138969205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactcaagcggagctaataGgactagtctgtctgggggaa	12	9	13	7	1	3	0	1	0	2	0	3	3	3	3	0	4	3	1	0	4	6	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr7:138969205G>T	ENST00000288561.8	+	15	3554	c.3305G>T	c.(3304-3306)aGg>aTg	p.R1102M	UBN2_ENST00000473989.2_Missense_Mutation_p.R1185M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1185	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGAGCTAATAGGACTAGTCTG	0.493													10	51					0.00621372	0.00627982	1	0	T	138969205	G	T	138969205	3	4	475	1	0	0	0	0	1	0	0	0	16989	1000	35	4	3612	4	UBN2	7	138969205	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	39660709	138969205	20169458	38	91465											
CSMD1	64478	broad.mit.edu	37	chr8	2966208	2966208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttggtggagctatacgccGtttcgagggctgtgttgcca	5	12	16	8	3	0	0	0	0	0	0	1	2	0	1	2	4	3	5	2	4	2	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:2966208G>A	ENST00000602557.1	-	45	7229	c.6674C>T	c.(6673-6675)aCg>aTg	p.T2225M	CSMD1_ENST00000602723.1_Missense_Mutation_p.T2225M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2225M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2224M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2224M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2225M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2225	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTATACGCCGTTTCGAGGGC	0.502													10	7					0	0	0	0	A	2966208	G	A	2966208	3	1	475	1	0	0	0	0	1	0	0	0	3976	1145	40	1	4131	1	CSMD1	8	2966208	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		2966208	143397814	39	91466											
DOCK5	80005	broad.mit.edu	37	chr8	25226143	25226143	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccattctggaggtcactCtgacccctgaagtagagctc	8	10	10	13	0	3	3	1	2	2	1	5	4	4	4	3	2	1	2	3	2	2	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:25226143C>G	ENST00000276440.7	+	33	3384	c.3340C>G	c.(3340-3342)Ctg>Gtg	p.L1114V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1114						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			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)		GGAGGTCACTCTGACCCCTGA	0.408													20	15					0	0	0	0	G	25226143	C	G	25226143	3	3	475	1	0	0	0	0	1	0	0	0	4726	912	32	2	3470	2	DOCK5	8	25226143	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	22259935	25226143	121137879	40	91467											
OSGIN2	734	broad.mit.edu	37	chr8	90937310	90937310	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcctgaatatcataaagtCtatcatatgatgtgtactca	14	15	5	7	0	4	2	3	2	1	0	5	2	5	2	1	0	1	1	1	0	8	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:90937310C>G	ENST00000451899.2	+	6	1460	c.1200C>G	c.(1198-1200)gtC>gtG	p.V400V	OSGIN2_ENST00000297438.2_Silent_p.V356V	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	356					germ cell development|meiosis					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)			ATCATAAAGTCTATCATATGA	0.383													35	102					0	0	0	0	G	90937310	C	G	90937310	2	3	475	1	0	0	0	0	0	0	0	1	11361	900	32	2		2	OSGIN2	8	90937310	Silent	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	65711167	90937310	55426712	41	91468											
FER1L6	654463	broad.mit.edu	37	chr8	125033801	125033801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttaggaagcaatgtgCaaggaggccaaggggatcat	12	10	14	5	0	1	0	1	0	0	0	1	3	1	3	1	5	2	3	1	5	5	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:125033801C>T	ENST00000522917.1	+	17	2231	c.2025C>T	c.(2023-2025)tgC>tgT	p.C675C	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C675C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	675						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCAATGTGCAAGGAGGCCA	0.453													39	173					0	0	0	0	T	125033801	C	T	125033801	2	4	475	1	0	0	0	0	0	0	0	1	5860	718	25	4		4	FER1L6	8	125033801	Silent	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	34096491	125033801	21330221	42	91469											
SCRT1	83482	broad.mit.edu	37	chr8	145559793	145559793	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcggccgaagagaacgcGtcaagtttgaccttcttgac	10	9	12	10	4	2	3	1	2	1	1	3	5	2	3	2	2	1	1	2	2	3	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:145559793G>A	ENST00000332135.4	-	1	150	c.39C>T	c.(37-39)gaC>gaT	p.D13D		NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	13						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	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;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AAGAGAACGCGTCAAGTTTGA	0.692													8	30					0	0	0	0	A	145559793	G	A	145559793	2	1	475	1	0	0	0	0	0	0	0	1	14028	1136	40	1		1	SCRT1	8	145559793	Silent	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	20525992	145559793	804229	43	91470											
DAPK1	1612	broad.mit.edu	37	chr9	90321664	90321664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaacgtcatggccaccacGctgccagggctcctgaccgt	8	6	12	15	3	1	2	1	1	0	1	2	3	2	2	5	2	2	2	5	2	1	0			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr9:90321664G>A	ENST00000469640.2	+	27	4128	c.3753G>A	c.(3751-3753)acG>acA	p.T1251T	DAPK1_ENST00000472284.1_Silent_p.T1226T|DAPK1_ENST00000408954.3_Silent_p.T1226T|DAPK1_ENST00000358077.5_Silent_p.T1226T|DAPK1_ENST00000491893.1_Silent_p.T1160T			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1226					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.T1226T(2)|p.T1227T(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGGCCACCACGCTGCCAGGGC	0.627									Chronic Lymphocytic Leukemia, Familial Clustering of				6	20					0	0	0	0	A	90321664	G	A	90321664	2	1	475	1	0	0	0	0	0	0	0	1	4268	1074	38	1		1	DAPK1	9	90321664	Silent	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		90321664	50891767	44	91471											
MCM10	55388	broad.mit.edu	37	chr10	13213057	13213057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttgatgagctctttgatgCcgacggcgacggtgaatctt	8	13	12	8	4	2	4	0	4	2	0	2	6	2	4	1	2	2	1	1	2	1	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr10:13213057C>T	ENST00000378694.1	+	2	218	c.143C>T	c.(142-144)gCc>gTc	p.A48V	MCM10_ENST00000378714.3_Missense_Mutation_p.A48V|MCM10_ENST00000484800.2_Missense_Mutation_p.A48V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	48					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTCTTTGATGCCGACGGCGAC	0.458													5	128					0	0	0	0	T	13213057	C	T	13213057	3	4	475	1	0	0	0	0	1	0	0	0	9454	739	26	4	149	4	MCM10	10	13213057	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08		13213057	122321690	45	91472											
RPS24	6229	broad.mit.edu	37	chr10	79797023	79797023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacagaatgaagaaagtCagggggactgcaaaggccaa	19	3	13	6	0	1	4	1	1	0	3	1	5	1	5	1	3	2	1	1	3	7	0			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr10:79797023C>T	ENST00000360830.4	+	4	370	c.351C>T	c.(349-351)gtC>gtT	p.117_117insV	RPS24_ENST00000440692.1_Silent_p.V117V|RPS24_ENST00000435275.1_Silent_p.V117V|RPS24_ENST00000372360.3_Silent_p.V117V|RPS24_ENST00000476545.1_3'UTR			P62847	RS24_HUMAN	ribosomal protein S24	0					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			TGAAGAAAGTCAGGGGGACTG	0.398													3	2					0	0	0	0	T	79797023	C	T	79797023	3	4	475	1	0	0	0	0	1	0	0	0	13720	813	29	2	365	2	RPS24	10	79797023	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	66583966	79797023	55737724	46	91473											
LIPN	643418	broad.mit.edu	37	chr10	90528636	90528636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgatctcattcaaatatcCcacgggcatttttaccaggt	11	13	6	11	2	2	0	2	0	1	0	4	1	3	0	2	2	2	1	2	2	4	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr10:90528636C>T	ENST00000404459.1	+	5	623	c.623C>T	c.(622-624)cCc>cTc	p.P208L		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	208					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TTCAAATATCCCACGGGCATT	0.403													9	9					0	0	0	0	T	90528636	C	T	90528636	3	4	475	1	0	0	0	0	1	0	0	0	8883	623	22	4	641	4	LIPN	10	90528636	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	10731613	90528636	45006111	47	91474											
CYP2C9	1559	broad.mit.edu	37	chr10	96745813	96745813	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaccatattaatttccctGacttctgtgctacatgacaa	13	13	4	11	0	1	2	0	2	1	0	2	2	2	2	2	0	3	1	2	0	5	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr10:96745813G>C	ENST00000260682.6	+	8	1185	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	391					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.L391L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TAATTTCCCTGACTTCTGTGC	0.383													6	63					0	0	0	0	C	96745813	G	C	96745813	2	2	475	1	0	0	0	0	0	0	0	1	4200	1277	45	2		2	CYP2C9	10	96745813	Silent	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	6217177	96745813	38788934	48	91475											
DCHS1	8642	broad.mit.edu	37	chr11	6645063	6645063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcagctccaacaggtGtgtcctcaggtactgtcaca	9	9	10	13	0	3	0	3	0	0	0	5	0	5	0	2	2	4	4	2	2	2	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:6645063G>A	ENST00000299441.3	-	21	8255	c.7844C>T	c.(7843-7845)aCa>aTa	p.T2615I		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2615	Cadherin 25.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAACAGGTGTGTCCTCAGG	0.567													32	139					0	0	0	0	A	6645063	G	A	6645063	3	1	475	1	0	0	0	0	1	0	0	0	4319	1377	48	4	2056	4	DCHS1	11	6645063	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		6645063	128361453	49	91476											
OR5D14	219436	broad.mit.edu	37	chr11	55563188	55563188	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatcataataatcaagAttaaccccaaatttcacact	17	11	4	9	0	3	2	3	1	0	1	3	3	3	3	2	1	1	0	2	1	5	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:55563188A>G	ENST00000335605.1	+	1	157	c.157A>G	c.(157-159)Att>Gtt	p.I53V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATAATCAAGATTAACCCCAA	0.388													17	51					0	0	0	0	G	55563188	A	G	55563188	3	3	475	1	0	0	0	0	1	0	0	0	11226	333	12	5	159	5	OR5D14	11	55563188	Missense_Mutation	SNP	A	TCGA-QK-A6IH-01A-11D-A31L-08	48918125	55563188	79443328	50	91477											
TMEM109	79073	broad.mit.edu	37	chr11	60688430	60688430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctctgtctgggatcgccGcacagctgctgaatgccttg	5	12	12	12	2	2	1	0	1	2	0	3	2	2	2	2	1	4	4	2	1	1	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:60688430G>A	ENST00000227525.3	+	3	713	c.310G>A	c.(310-312)Gca>Aca	p.A104T	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.A104T	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	104						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TGGGATCGCCGCACAGCTGCT	0.537													5	126					0	0	0	0	A	60688430	G	A	60688430	3	1	475	1	0	0	0	0	1	0	0	0	16119	1087	38	1	316	1	TMEM109	11	60688430	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	5125242	60688430	74318086	51	91478											
TMEM151A	256472	broad.mit.edu	37	chr11	66062449	66062449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgggcgcgcttcttcagCgccaacgagggcctggacga	7	5	15	14	6	2	0	1	0	1	0	2	3	2	1	2	3	3	1	2	3	1	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:66062449C>T	ENST00000327259.4	+	2	876	c.732C>T	c.(730-732)agC>agT	p.S244S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	244						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GCTTCTTCAGCGCCAACGAGG	0.687													5	14					0	0	0	0	T	66062449	C	T	66062449	2	4	475	1	0	0	0	0	0	0	0	1	16164	767	27	1		1	TMEM151A	11	66062449	Silent	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	5374019	66062449	68944067	52	91479											
IGHMBP2	3508	broad.mit.edu	37	chr11	68696716	68696716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgacgtggtggtcattgacGagtgtgcccaggccctcgag	6	9	15	11	4	1	1	1	1	0	0	3	4	1	1	2	3	1	0	2	3	0	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:68696716G>A	ENST00000255078.3	+	8	1237	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	376	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCATTGACGAGTGTGCCCA	0.652													10	405					0	0	0	0	A	68696716	G	A	68696716	3	1	475	1	0	0	0	0	1	0	0	0	7644	1059	37	1	1156	1	IGHMBP2	11	68696716	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	2634267	68696716	66309800	53	91480											
CIT	11113	broad.mit.edu	37	chr12	120221731	120221731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgcattctgtgatgtagGtagcaaggtcctgctccagg	8	11	12	10	0	1	1	0	1	1	0	3	1	3	1	2	3	3	5	2	3	3	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr12:120221731G>C	ENST00000392521.2	-	12	1581	c.1526C>G	c.(1525-1527)aCc>aGc	p.T509S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.T509S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	509					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTGATGTAGGTAGCAAGGTC	0.552													11	267					0	0	0	0	C	120221731	G	C	120221731	3	2	475	1	0	0	0	0	1	0	0	0	3468	1261	44	4	4701	4	CIT	12	120221731	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		120221731	13630164	54	91481											
RIMBP2	23504	broad.mit.edu	37	chr12	130927081	130927081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccctccaggccgatgccGgaatggttgatgaagttctg	7	11	12	11	2	2	2	0	2	2	0	4	4	3	3	4	3	1	2	4	3	2	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr12:130927081G>A	ENST00000261655.4	-	8	928	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_ENST00000535703.1_Silent_p.S163S|RIMBP2_ENST00000536002.1_Silent_p.S163S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	255						cell junction|synapse				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)		GGCCGATGCCGGAATGGTTGA	0.597													4	107					0	0	0	0	A	130927081	G	A	130927081	2	1	475	1	0	0	0	0	0	0	0	1	13446	1103	39	1		1	RIMBP2	12	130927081	Silent	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	10705350	130927081	2924814	55	91482											
NEK5	341676	broad.mit.edu	37	chr13	52684525	52684525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctttgccaccattcCgttcttgctaagaaaaatgt	11	12	6	12	1	1	1	0	0	1	1	2	1	2	1	4	0	3	3	4	0	4	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr13:52684525C>T	ENST00000355568.4	-	7	557	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	140	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GCCACCATTCCGTTCTTGCTA	0.353													27	32					0	0	0	0	T	52684525	C	T	52684525	3	4	475	1	0	0	0	0	1	0	0	0	10397	661	23	1	1772	1	NEK5	13	52684525	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08		52684525	62485353	56	91483											
METTL3	56339	broad.mit.edu	37	chr14	21967215	21967215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaaataactcaatcttgcGagtgccaggagatagtcttt	12	12	8	9	1	3	1	1	0	2	1	4	3	4	1	2	1	3	0	2	1	4	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr14:21967215G>A	ENST00000298717.4	-	10	1736	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	TOX4_ENST00000262709.3_3'UTR|TOX4_ENST00000405508.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	529					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCAATCTTGCGAGTGCCAGGA	0.413													27	34					0	0	0	0	A	21967215	G	A	21967215	3	1	475	1	0	0	0	0	1	0	0	0	9570	1058	37	1	165	1	METTL3	14	21967215	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		21967215	85382325	57	91484											
CASC5	57082	broad.mit.edu	37	chr15	40913774	40913774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctagttgtaatgatgccatgGaaatgaccaaatgtctctca	13	12	8	8	0	2	2	1	2	1	0	3	3	2	3	2	1	1	2	2	1	4	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:40913774G>A	ENST00000346991.5	+	11	1780	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	CASC5_ENST00000399668.2_Missense_Mutation_p.E438K|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	464	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGATGCCATGGAAATGACCAA	0.348													32	48					0	0	0	0	A	40913774	G	A	40913774	3	1	475	1	0	0	0	0	1	0	0	0	2688	1175	41	2	1428	2	CASC5	15	40913774	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		40913774	61617618	58	91485											
WDR72	256764	broad.mit.edu	37	chr15	53889440	53889440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgttgttgaacttccGccaagagaacagcttgtatt	10	14	9	8	1	1	2	1	1	0	1	2	3	2	2	2	0	3	4	2	0	4	6			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:53889440G>A	ENST00000396328.1	-	18	3223	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V	WDR72_ENST00000557913.1_Missense_Mutation_p.A992V|WDR72_ENST00000559418.1_Missense_Mutation_p.A1005V|WDR72_ENST00000360509.5_Missense_Mutation_p.A995V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTGAACTTCCGCCAAGAGAAC	0.373													44	96					0	0	0	0	A	53889440	G	A	53889440	3	1	475	1	0	0	0	0	1	0	0	0	17418	1087	38	1	336	1	WDR72	15	53889440	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	12975666	53889440	48641952	59	91486											
SEMA7A	8482	broad.mit.edu	37	chr15	74704320	74704320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaagctgtgctcctgctccCccggttccaccaccttgtgg	4	10	10	17	2	0	0	0	0	0	0	3	1	3	0	6	2	3	4	6	2	1	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:74704320C>T	ENST00000261918.4	-	11	1876	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E	SEMA7A_ENST00000543145.2_Missense_Mutation_p.G429E|SEMA7A_ENST00000542748.1_Missense_Mutation_p.G278E	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	443	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTCCTGCTCCCCCGGTTCCAC	0.632													30	45					0	0	0	0	T	74704320	C	T	74704320	3	4	475	1	0	0	0	0	1	0	0	0	14130	623	22	4	688	4	SEMA7A	15	74704320	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	20814880	74704320	27827072	60	91487											
SCAMP5	192683	broad.mit.edu	37	chr15	75305126	75305126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtcagcatgaccaagcGcctctactacctctggatgt	9	10	9	13	1	3	1	1	1	2	0	3	2	3	2	3	1	4	2	3	1	3	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:75305126G>A	ENST00000361900.6	+	4	323	c.116G>A	c.(115-117)cGc>cAc	p.R39H	SCAMP5_ENST00000425597.3_Missense_Mutation_p.R39H|SCAMP5_ENST00000545456.1_Silent_p.A20A|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000562212.1_Missense_Mutation_p.R39H	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	39					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATGACCAAGCGCCTCTACTAC	0.587													16	27					0	0	0	0	A	75305126	G	A	75305126	3	1	475	1	0	0	0	0	1	0	0	0	13960	1087	38	1	122	1	SCAMP5	15	75305126	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	600806	75305126	27226266	61	91488											
SLCO3A1	28232	broad.mit.edu	37	chr15	92671628	92671628	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactcgccctgcaataataActgtgaatgccaaaccgatt	13	10	6	12	2	0	1	0	1	0	0	1	2	0	1	3	0	5	1	3	0	6	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:92671628A>C	ENST00000318445.6	+	7	1635	c.1421A>C	c.(1420-1422)aAc>aCc	p.N474T	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.N474T	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	474	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGCAATAATAACTGTGAATGC	0.522													30	139					0	0	0	0	C	92671628	A	C	92671628	3	2	475	1	0	0	0	0	1	0	0	0	14816	43	2	5	1447	5	SLCO3A1	15	92671628	Missense_Mutation	SNP	A	TCGA-QK-A6IH-01A-11D-A31L-08	17366502	92671628	9859764	62	91489											
CTCF	10664	broad.mit.edu	37	chr16	67650756	67650756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgagaagccattcaagtgttCcatgtgcgattacgccagtg	10	10	11	10	3	1	1	1	0	0	1	2	3	2	1	3	0	3	1	3	0	3	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr16:67650756C>T	ENST00000264010.4	+	5	1505	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	CTCF_ENST00000401394.1_Missense_Mutation_p.S26F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	354					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.S354F(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAAGTGTTCCATGTGCGAT	0.453													95	156					0	0	0	0	T	67650756	C	T	67650756	3	4	475	1	0	0	0	0	1	0	0	0	4032	855	30	2	1071	2	CTCF	16	67650756	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08		67650756	22703997	63	91490											
TP53	7157	broad.mit.edu	37	chr17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccacagctgcacagggCaggtcttggccagttggcaa	10	6	12	13	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)		CTGCACAGGGCAGGTCTTGGC	0.572		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)			22	12					0	0	0	0	T	7578508	C	T	7578508	3	4	475	1	0	0	0	0	1	0	0	0	16476	710	25	4	876	4	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08		7578508	73616702	64	91491											
TMEM132E	124842	broad.mit.edu	37	chr17	32959825	32959825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgtcctcaatgctcccctgGaaatgacagtctgggtcccc	8	9	9	15	1	2	1	1	1	1	0	5	2	5	2	5	2	1	1	5	2	2	0			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr17:32959825G>A	ENST00000321639.5	+	7	1643	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	439						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCTCCCCTGGAAATGACAGT	0.582													91	133					0	0	0	0	A	32959825	G	A	32959825	3	1	475	1	0	0	0	0	1	0	0	0	16142	1175	41	2	1341	2	TMEM132E	17	32959825	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	25381317	32959825	48235385	65	91492											
ARHGDIA	396	broad.mit.edu	37	chr17	79826815	79826815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtggtcggtcttgtcGtcgtctgtgaagcgggactt	5	12	16	8	4	2	1	0	1	2	0	5	3	2	2	0	4	1	0	0	4	1	2	rs115573742	byFrequency	TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr17:79826815G>C	ENST00000269321.7	-	6	687	c.552C>G	c.(550-552)gaC>gaG	p.D184E	ARHGDIA_ENST00000581876.1_Missense_Mutation_p.D109E|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.D184E|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.D140E|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.D184E|ARHGDIA_ENST00000584461.1_Intron	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	184					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGGTCTTGTCGTCGTCTGTGA	0.642													26	57					0	0	0	0	C	79826815	G	C	79826815	3	2	475	1	0	0	0	0	1	0	0	0	892	1136	40	3	66	3	ARHGDIA	17	79826815	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	46866990	79826815	1368395	66	91493											
MEP1B	4225	broad.mit.edu	37	chr18	29793102	29793102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccactgggagctggcaaCtttatcatgtaacattgaaa	13	11	8	9	0	1	1	1	1	0	0	1	2	1	2	1	2	4	3	1	2	5	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr18:29793102C>T	ENST00000269202.6	+	11	1206	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	MEP1B_ENST00000581447.1_Missense_Mutation_p.L387F	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	387	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAGCTGGCAACTTTATCATGT	0.393													20	19					0	0	0	0	T	29793102	C	T	29793102	3	4	475	1	0	0	0	0	1	0	0	0	9545	565	20	4	1201	4	MEP1B	18	29793102	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08		29793102	48284146	67	91494											
DNMT1	1786	broad.mit.edu	37	chr19	10270532	10270532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtaccgcgtctggtgggtGctgcccatatttgaggtcag	6	11	14	10	3	2	1	1	1	1	0	2	1	2	1	2	3	3	2	2	3	2	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:10270532G>A	ENST00000340748.4	-	15	1343	c.1108C>T	c.(1108-1110)Cac>Tac	p.H370Y	DNMT1_ENST00000359526.4_Missense_Mutation_p.H386Y|DNMT1_ENST00000540357.1_Missense_Mutation_p.H370Y			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	370	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCTGGTGGGTGCTGCCCATAT	0.602													8	229					0	0	0	0	A	10270532	G	A	10270532	3	1	475	1	0	0	0	0	1	0	0	0	4711	1319	46	4	3846	4	DNMT1	19	10270532	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		10270532	48858451	68	91495											
LDLR	3949	broad.mit.edu	37	chr19	11231182	11231182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgctggccagggacatGaggagctgcctcacaggtgt	8	8	15	10	0	1	1	1	1	0	0	1	3	1	3	2	4	4	3	2	4	0	0			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:11231182G>A	ENST00000558518.1	+	14	2311	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	LDLR_ENST00000558013.1_Missense_Mutation_p.M708I|LDLR_ENST00000557933.1_Missense_Mutation_p.M708I|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.M667I|LDLR_ENST00000455727.2_Missense_Mutation_p.M540I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	708	EGF-like 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCAGGGACATGAGGAGCTGCC	0.627													23	28					0	0	0	0	A	11231182	G	A	11231182	3	1	475	1	0	0	0	0	1	0	0	0	8757	1290	45	2	2178	2	LDLR	19	11231182	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	960650	11231182	47897801	69	91496											
ZNF43	7594	broad.mit.edu	37	chr19	21990749	21990749	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccagtatgaataatcTtatgtgtagaaagggttgag	12	14	10	5	0	2	3	0	2	2	1	4	3	3	3	1	1	0	3	1	1	6	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:21990749T>C	ENST00000594012.1	-	7	2586	c.2072A>G	c.(2071-2073)aAg>aGg	p.K691R	ZNF43_ENST00000354959.4_Missense_Mutation_p.K697R|ZNF43_ENST00000598381.1_Missense_Mutation_p.K691R|ZNF43_ENST00000595461.1_Missense_Mutation_p.K691R	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGAATAATCTTATGTGTAGA	0.348													18	38					0	0	0	0	C	21990749	T	C	21990749	3	2	475	1	0	0	0	0	1	0	0	0	17998	1609	56	5	343	5	ZNF43	19	21990749	Missense_Mutation	SNP	T	TCGA-QK-A6IH-01A-11D-A31L-08	10759567	21990749	37138234	70	91497											
FFAR1	2864	broad.mit.edu	37	chr19	35842837	35842837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcctggggggtgtgcgCggccatctgggccctcgtcc	2	10	15	14	3	1	0	0	0	1	0	4	0	3	0	4	5	1	0	4	5	1	2			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:35842837C>T	ENST00000246553.2	+	1	393	c.383C>T	c.(382-384)gCg>gTg	p.A128V		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	128					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GGGGTGTGCGCGGCCATCTGG	0.667													22	21					0	0	0	0	T	35842837	C	T	35842837	3	4	475	1	0	0	0	0	1	0	0	0	5872	768	27	1	385	1	FFAR1	19	35842837	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	13852088	35842837	23286146	71	91498											
WDR62	284403	broad.mit.edu	37	chr19	36572337	36572337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctgggaactgtaggtGtatcctgagtttgaagacca	9	12	12	8	0	1	3	0	2	1	1	3	4	3	4	3	2	1	3	3	2	4	3			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:36572337G>A	ENST00000401500.2	+	10	1271	c.1236G>A	c.(1234-1236)gtG>gtA	p.V412V	WDR62_ENST00000388999.3_Silent_p.V412V|WDR62_ENST00000270301.7_Silent_p.V412V	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	412					cerebral cortex development	nucleus				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)			AACTGTAGGTGTATCCTGAGT	0.418													40	39					0	0	0	0	A	36572337	G	A	36572337	2	1	475	1	0	0	0	0	0	0	0	1	17409	1364	48	4		4	WDR62	19	36572337	Silent	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	729500	36572337	22556646	72	91499											
CCDC8	83987	broad.mit.edu	37	chr19	46915423	46915423	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccaccccggggcccgccctCggcgcccaacccttcaccct	4	4	8	25	4	1	0	1	0	0	0	2	0	1	0	8	3	1	0	8	3	1	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:46915423C>G	ENST00000307522.3	-	1	1418	c.645G>C	c.(643-645)ccG>ccC	p.P215P		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	215						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGCCCGCCCTCGGCGCCCAAC	0.711													14	23					0	0	0	0	G	46915423	C	G	46915423	2	3	475	1	0	0	0	0	0	0	0	1	2880	871	31	3		3	CCDC8	19	46915423	Silent	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	10343086	46915423	12213560	73	91500											
SPACA4	171169	broad.mit.edu	37	chr19	49110400	49110400	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggccacggggtcgccccGggcactggtccggtcatcaa	7	5	14	15	4	2	0	2	0	0	0	4	0	3	0	4	6	0	1	4	6	1	0			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:49110400G>T	ENST00000321762.1	+	1	401	c.165G>T	c.(163-165)ccG>ccT	p.P55P	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	55	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGGTCGCCCCGGGCACTGGTC	0.627													27	58					2.79863e-10	2.85882e-10	1	0	T	49110400	G	T	49110400	2	4	475	1	0	0	0	0	0	0	0	1	15062	1103	39	3		3	SPACA4	19	49110400	Silent	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	2194977	49110400	10018583	74	91501											
MAVS	57506	broad.mit.edu	37	chr20	3845128	3845128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccgagcctatcatctgctCcagtggggcagaggcacctg	7	7	14	13	1	2	1	1	0	1	1	3	2	3	1	4	4	2	3	4	4	1	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr20:3845128C>T	ENST00000428216.2	+	6	979	c.851C>T	c.(850-852)tCc>tTc	p.S284F	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.S143F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	284					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ATCATCTGCTCCAGTGGGGCA	0.612													20	44					0	0	0	0	T	3845128	C	T	3845128	3	4	475	1	0	0	0	0	1	0	0	0	9407	855	30	2	869	2	MAVS	20	3845128	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08		3845128	59180392	75	91502											
ETS2	2114	broad.mit.edu	37	chr21	40181971	40181971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttaagatgaatgatttcGgaatcaagaatatggaccag	15	13	9	4	1	1	4	1	2	0	2	2	6	1	6	1	2	0	0	1	2	6	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr21:40181971G>A	ENST00000360214.3	+	3	473	c.13G>A	c.(13-15)Gga>Aga	p.G5R	ETS2_ENST00000360938.3_Missense_Mutation_p.G5R	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	5					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GAATGATTTCGGAATCAAGAA	0.373													4	16					0	0	0	0	A	40181971	G	A	40181971	3	1	475	1	0	0	0	0	1	0	0	0	5314	1117	39	1	15	1	ETS2	21	40181971	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		40181971	7947924	76	91503											
SEZ6L	23544	broad.mit.edu	37	chr22	26769434	26769434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttaatcaagacagttttGaacatgctttagaaggtgag	14	12	10	5	0	1	4	1	2	0	2	1	4	1	4	0	1	2	3	0	1	5	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr22:26769434G>C	ENST00000404234.3	+	14	3008	c.2812G>C	c.(2812-2814)Gaa>Caa	p.E938Q	SEZ6L_ENST00000402979.1_Missense_Mutation_p.E711Q|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E938Q|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000494013.1_Intron	NM_001184773.1|NM_021115.4	NP_001171702.1|NP_066938.2	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	938						endoplasmic reticulum membrane|integral to membrane		p.E938K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGACAGTTTTGAACATGCTTT	0.323													5	26					0	0	0	0	C	26769434	G	C	26769434	3	2	475	1	0	0	0	0	1	0	0	0	14230	1291	45	2	2866	2	SEZ6L	22	26769434	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		26769434	24535132	77	91504											
NCF4	4689	broad.mit.edu	37	chr22	37272079	37272079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccccttagggacatcgCggtggaggaagatctcagca	10	7	12	12	2	2	1	2	0	1	1	4	4	2	4	2	4	1	1	2	4	2	1			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr22:37272079C>T	ENST00000397147.4	+	8	1196	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	NCF4_ENST00000248899.6_Missense_Mutation_p.A256V	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGGGACATCGCGGTGGAGGAA	0.607													11	19					0	0	0	0	T	37272079	C	T	37272079	3	4	475	1	0	0	0	0	1	0	0	0	10288	768	27	1	1042	1	NCF4	22	37272079	Missense_Mutation	SNP	C	TCGA-QK-A6IH-01A-11D-A31L-08	10502645	37272079	14032487	78	91505											
CSNK1E	1454	broad.mit.edu	37	chr22	38710135	38710135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgatcttccgtcccaggcGgtacttgttccccacacgta	6	10	8	17	4	1	0	0	0	1	0	4	1	4	0	5	2	1	3	5	2	2	5			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr22:38710135G>A	ENST00000396832.1	-	2	288	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	CSNK1E_ENST00000400206.2_Missense_Mutation_p.R10C|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R10C|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R10C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R10C|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R10C	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	10	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CGTCCCAGGCGGTACTTGTTC	0.617													29	28					0	0	0	0	A	38710135	G	A	38710135	3	1	475	1	0	0	0	0	1	0	0	0	3985	1116	39	1	1258	1	CSNK1E	22	38710135	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08	1438056	38710135	12594431	79	91506											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-																															ggatggcctggtagttgtggTgctgctgctgctgctggttg																										TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr22:40816887_40816889delTGC	ENST00000396617.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cac>ca	p.QH281del	MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia								7	76	---	---	---	---					-	40816889	TGC	-	40816887	7	5	475	1	0	1	0	1	0	0	0	0	9670	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-QK-A6IH-01A-11D-A31L-08	2106752	40816887	10487679	80	91507											
DDX3X	1654	broad.mit.edu	37	chrX	41203625	41203625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctagtggatatgatggaaaGaggaaagattggattagact	15	11	13	2	0	1	4	0	1	1	3	1	8	1	8	0	4	0	0	0	4	5	4			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chrX:41203625G>C	ENST00000399959.2	+	10	1853	c.998G>C	c.(997-999)aGa>aCa	p.R333T	DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.R317T	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	333	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATGATGGAAAGAGGAAAGATT	0.383										HNSCC(61;0.18)			61	46					0	0	0	0	C	41203625	G	C	41203625	3	2	475	1	0	0	0	0	1	0	0	0	4390	942	33	2	1036	2	DDX3X	23	41203625	Missense_Mutation	SNP	G	TCGA-QK-A6IH-01A-11D-A31L-08		41203625	114066935	81	91508											
EYA3	2140	broad.mit.edu	37	chr1	28354392	28354392	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgacttggagatggaGtctgaattaaaccactttca	11	14	10	6	0	2	3	1	2	1	1	2	5	2	4	1	2	1	1	1	2	3	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:28354392G>T	ENST00000373871.3	-	7	647	c.407C>A	c.(406-408)aCt>aAt	p.T136N	EYA3_ENST00000436342.2_Missense_Mutation_p.T10N|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Intron|EYA3_ENST00000545175.1_Missense_Mutation_p.T83N			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	136					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAGATGGAGTCTGAATTAA	0.433													31	70					1.99505e-19	2.13819e-19	1	0	T	28354392	G	T	28354392	3	4	476	1	0	0	0	0	1	0	0	0	5368	1029	36	4	1362	4	EYA3	1	28354392	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		28354392	220896229	1	91509											
ZSCAN20	7579	broad.mit.edu	37	chr1	33956919	33956919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacttgtcaccagaaccGccaggtatatcgggccattg	9	8	11	13	3	1	1	1	0	0	1	2	2	1	2	5	3	1	1	5	3	3	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:33956919G>T	ENST00000361328.3	+	6	1214	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R300L	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	354					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CACCAGAACCGCCAGGTATAT	0.517													33	92					3.86903e-22	4.18415e-22	1	0	T	33956919	G	T	33956919	3	4	476	1	0	0	0	0	1	0	0	0	18324	1087	38	3	1079	3	ZSCAN20	1	33956919	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	5602527	33956919	215293702	2	91510											
ZMYM1	79830	broad.mit.edu	37	chr1	35580247	35580247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttctcttcagaaaagaaGaaaaattcagaaatcagtag	19	9	6	7	0	4	4	3	0	1	4	5	4	4	4	1	0	0	1	1	0	7	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:35580247G>A	ENST00000373330.1	+	11	2990	c.2816G>A	c.(2815-2817)aGa>aAa	p.R939K	ZMYM1_ENST00000359858.4_Missense_Mutation_p.R939K|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	939						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGAAAAGAAGAAAAATTCAG	0.284													3	14					0	0	0	0	A	35580247	G	A	35580247	3	1	476	1	0	0	0	0	1	0	0	0	17794	942	33	2	2850	2	ZMYM1	1	35580247	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	1623328	35580247	213670374	3	91511											
TOE1	114034	broad.mit.edu	37	chr1	45808314	45808314	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaatatgccttccggaaaTggtgaggaaatggttgaggg	12	10	15	4	1	0	3	0	2	0	1	1	5	1	5	2	5	1	1	2	5	5	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:45808314T>C	ENST00000372090.5	+	6	1334	c.752_splice	c.e6+1	p.C251_splice	TOE1_ENST00000539779.1_Splice_Site_p.C171_splice|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	251						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CTTCCGGAAATGGTGAGGAAA	0.468													47	138					0	0	0	0	C	45808314	T	C	45808314	5	2	476	1	0	0	0	0	0	0	1	0	16443	1478	51	5	773	5	TOE1	1	45808314	Splice_Site	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	10228067	45808314	203442307	4	91512											
IPP	3652	broad.mit.edu	37	chr1	46206694	46206694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccattgcattgcagctaaGaagacctggtattcatcctc	11	12	7	11	0	1	2	1	0	0	2	4	2	3	2	3	1	3	4	3	1	3	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:46206694G>C	ENST00000396478.3	-	3	705	c.603C>G	c.(601-603)ttC>ttG	p.F201L		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	201						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTGCAGCTAAGAAGACCTGGT	0.413													19	56					0	0	0	0	C	46206694	G	C	46206694	3	2	476	1	0	0	0	0	1	0	0	0	7853	933	33	2	1281	2	IPP	1	46206694	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	398380	46206694	203043927	5	91513											
KIAA1324	57535	broad.mit.edu	37	chr1	109730882	109730882	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctgcctgcctctggtgtGaagacccactgcccaccctg	7	8	10	16	0	1	2	0	1	1	1	1	2	1	2	5	1	4	1	5	1	2	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:109730882G>C	ENST00000369939.3	+	9	1308	c.1125G>C	c.(1123-1125)gtG>gtC	p.V375V	KIAA1324_ENST00000529753.1_Silent_p.V288V|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	375					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCTCTGGTGTGAAGACCCACT	0.537													33	117					0	0	0	0	C	109730882	G	C	109730882	2	2	476	1	0	0	0	0	0	0	0	1	8274	1277	45	2		2	KIAA1324	1	109730882	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	63524188	109730882	139519739	6	91514											
MOV10	4343	broad.mit.edu	37	chr1	113238804	113238804	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacgcaaagaagggggagtAtgtatttcccgccaagaaga	14	6	14	7	2	0	3	0	0	0	3	1	5	1	5	2	3	0	3	2	3	6	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:113238804A>T	ENST00000369644.1	+	13	2675	c.1646A>T	c.(1645-1647)tAt>tTt	p.Y549F	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.Y605F|MOV10_ENST00000369645.1_Missense_Mutation_p.Y605F|MOV10_ENST00000357443.2_Missense_Mutation_p.Y605F|RP11-426L16.3_ENST00000421943.1_RNA			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	605					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AAGGGGGAGTATGTATTTCCC	0.547													8	25					0	0	0	0	T	113238804	A	T	113238804	3	4	476	1	0	0	0	0	1	0	0	0	9788	449	16	5	1856	5	MOV10	1	113238804	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	3507922	113238804	136011817	7	91515											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879176	144879176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctggagagtagaaagccCcagtgccatcagacagccac	12	4	11	14	0	1	3	1	0	0	3	1	4	1	3	5	1	3	1	5	1	2	1	rs145464352		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:144879176C>T	ENST00000369359.4	-	30	4720	c.4682G>A	c.(4681-4683)gGg>gAg	p.G1561E	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G1561E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G1425E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G1425E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1381E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1425	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTAGAAAGCCCCAGTGCCATC	0.552			T	PDGFRB	MPD								7	89					0	0	0	0	T	144879176	C	T	144879176	3	4	476	1	0	0	0	0	1	0	0	0	11714	623	22	4	2838	4	PDE4DIP	1	144879176	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	31640372	144879176	104371445	8	91516											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273377	145273377	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtgtctcgaccttgcctGaatggcggcacatgccatat	7	13	10	11	2	1	1	0	1	1	0	2	2	1	1	3	2	2	1	3	2	2	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:145273377G>C	ENST00000369340.3	+	4	675	c.231G>C	c.(229-231)ctG>ctC	p.L77L	NOTCH2NL_ENST00000362074.6_Silent_p.L77L|RP11-458D21.5_ENST00000468030.1_Silent_p.L77L|NOTCH2NL_ENST00000344859.3_Silent_p.L77L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	77	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACCTTGCCTGAATGGCGGCA	0.532													29	351					0	0	0	0	C	145273377	G	C	145273377	2	2	476	1	0	0	0	0	0	0	0	1	10619	1277	45	2		2	NOTCH2NL	1	145273377	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	394201	145273377	103977244	9	91517											
HORMAD1	84072	broad.mit.edu	37	chr1	150676644	150676644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttagacctcataatttCatcttcctcacaaactaaac	13	15	1	12	0	5	1	3	0	2	1	6	1	6	1	2	0	2	0	2	0	5	7			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:150676644C>T	ENST00000368993.2	-	12	1003	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	HORMAD1_ENST00000361824.2_Missense_Mutation_p.E300K|HORMAD1_ENST00000368995.4_Missense_Mutation_p.E220K|HORMAD1_ENST00000322343.7_Missense_Mutation_p.E293K			Q86X24	HORM1_HUMAN	HORMA domain containing 1	300					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTCATAATTTCATCTTCCTCA	0.303													4	5					0	0	0	0	T	150676644	C	T	150676644	3	4	476	1	0	0	0	0	1	0	0	0	7336	835	29	2	302	2	HORMAD1	1	150676644	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	5403267	150676644	98573977	10	91518											
ADCY10	55811	broad.mit.edu	37	chr1	167798634	167798634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggaaaggcagacagtttgCcggtaaagttgtgccagcct	12	8	13	8	1	0	1	0	0	0	1	0	2	0	2	3	3	3	4	3	3	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:167798634C>T	ENST00000367848.1	-	26	3842	c.3345G>A	c.(3343-3345)cgG>cgA	p.R1115R	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.R1207R|ADCY10_ENST00000545172.1_Silent_p.R1054R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1207					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.R1207R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGACAGTTTGCCGGTAAAGTT	0.423													5	92					0	0	0	0	T	167798634	C	T	167798634	2	4	476	1	0	0	0	0	0	0	0	1	293	726	26	4		4	ADCY10	1	167798634	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	17121990	167798634	81451987	11	91519											
INTS7	25896	broad.mit.edu	37	chr1	212118259	212118259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagcgccagctgctggttaTtctggacagcaatgggctct	7	12	12	10	1	2	0	0	0	2	0	2	1	2	1	1	3	4	5	1	3	3	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:212118259T>C	ENST00000366994.3	-	19	2572	c.2468A>G	c.(2467-2469)aAt>aGt	p.N823S	INTS7_ENST00000366992.3_Missense_Mutation_p.N803S|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.N809S|INTS7_ENST00000440600.2_Missense_Mutation_p.N774S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	823					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGCTGGTTATTCTGGACAGC	0.502													18	40					0	0	0	0	C	212118259	T	C	212118259	3	2	476	1	0	0	0	0	1	0	0	0	7836	1493	52	5	428	5	INTS7	1	212118259	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	44319625	212118259	37132362	12	91520											
PROX1	5629	broad.mit.edu	37	chr1	214169881	214169881	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaataaccgtccagtgatGcctgaccatgacagcacagc	13	6	8	14	1	0	3	0	3	0	0	1	3	1	3	4	0	4	1	4	0	2	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:214169881G>T	ENST00000366958.4	+	2	611	c.3G>T	c.(1-3)atG>atT	p.M1I	PROX1_ENST00000498508.2_Start_Codon_SNP_p.M1I|PROX1_ENST00000261454.4_Start_Codon_SNP_p.M1I|PROX1_ENST00000435016.1_Start_Codon_SNP_p.M1I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	1					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTCCAGTGATGCCTGACCATG	0.507													12	35					7.03913e-09	7.34651e-09	1	0	T	214169881	G	T	214169881	1	4	476	1	0	0	0	0	0	0	0	0	12640	1319	46	4		4	PROX1	1	214169881	Translation_Start_Site	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	2051622	214169881	35080740	13	91521											
KCNK1	3775	broad.mit.edu	37	chr1	233802462	233802462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcgcatcaccgtgcaCgtcacccgcaggccggtcct	6	6	11	18	5	2	0	2	0	0	0	4	0	4	0	5	2	2	3	5	2	0	0	rs143943031		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:233802462C>T	ENST00000366621.3	+	2	645	c.477C>T	c.(475-477)caC>caT	p.H159H	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.H43H	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	159						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCACCGTGCACGTCACCCGCA	0.592													13	38					0	0	0	0	T	233802462	C	T	233802462	2	4	476	1	0	0	0	0	0	0	0	1	8111	535	19	1		1	KCNK1	1	233802462	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	19632581	233802462	15448159	14	91522											
GPR137B	7107	broad.mit.edu	37	chr1	236305987	236305988	+	Frame_Shift_Ins	INS	-	-	C																															atggagaccccgccgtgggaINScccagcccgcaacgactcgc																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:236305987_236305988insC	ENST00000366592.3	+	1	156_157	c.65_66insC	c.(64-66)gccfs	p.A22fs	GPR137B_ENST00000366591.4_Frame_Shift_Ins_p.A22fs	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	22						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCGCCGTGGGACCCAGCCCGCA	0.772													4	9	---	---	---	---					C	236305988	-	C	236305987	7	5	476	1	0	1	1	0	0	0	0	0	6695	275	10	0	67	0	GPR137B	1	236305987	Frame_Shift_Ins	INS	-	TCGA-QK-A6II-01A-11D-A31L-08	2503525	236305987	12944634	15	91523											
RYR2	6262	broad.mit.edu	37	chr1	237617746	237617746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagtcgatttgcctataGagtccgtaagcctaagtctg	10	11	9	11	2	1	1	0	0	1	1	3	2	2	1	4	0	2	1	4	0	4	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:237617746G>C	ENST00000366574.2	+	15	1665	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	RYR2_ENST00000542537.1_Missense_Mutation_p.E434Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E448Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	450					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCCTATAGAGTCCGTAAG	0.448													11	27					0	0	0	0	C	237617746	G	C	237617746	3	2	476	1	0	0	0	0	1	0	0	0	13854	943	33	2	1406	2	RYR2	1	237617746	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	1311759	237617746	11632875	16	91524											
ZNF670	93474	broad.mit.edu	37	chr1	247202158	247202158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatcttggatattctggtCttctgatttgtttcctaaaa	8	19	7	7	0	5	1	1	1	4	0	6	2	6	2	1	2	0	1	1	2	3	7			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:247202158C>G	ENST00000366503.2	-	3	303	c.145G>C	c.(145-147)Gac>Cac	p.D49H		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATATTCTGGTCTTCTGATTTG	0.343													11	26					0	0	0	0	G	247202158	C	G	247202158	3	3	476	1	0	0	0	0	1	0	0	0	18172	913	32	2	1032	2	ZNF670	1	247202158	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	9584412	247202158	2048463	17	91525											
ASAP2	8853	broad.mit.edu	37	chr2	9484911	9484911	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagttaaaaatggttttctGaccatatcccatggtaccgt	11	14	7	9	1	2	1	1	1	1	0	3	1	3	1	3	2	1	3	3	2	5	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:9484911G>C	ENST00000281419.3	+	11	1345	c.1005G>C	c.(1003-1005)ctG>ctC	p.L335L	ASAP2_ENST00000315273.4_Silent_p.L335L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	335	PH.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGGTTTTCTGACCATATCCC	0.408													10	24					0	0	0	0	C	9484911	G	C	9484911	2	2	476	1	0	0	0	0	0	0	0	1	1015	1277	45	2		2	ASAP2	2	9484911	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		9484911	233714462	18	91526											
DTNB	1838	broad.mit.edu	37	chr2	25819047	25819047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcttcagaacttccttcaGaaactggtcaaacttgctaa	13	11	7	10	0	3	2	3	0	0	2	4	3	4	2	1	1	5	2	1	1	4	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:25819047G>C	ENST00000406818.3	-	6	760	c.511C>G	c.(511-513)Ctg>Gtg	p.L171V	DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.L171V|DTNB_ENST00000407661.3_Missense_Mutation_p.L171V|DTNB_ENST00000407038.3_Missense_Mutation_p.L171V|DTNB_ENST00000405222.1_Missense_Mutation_p.L171V|DTNB_ENST00000545439.1_Intron|DTNB_ENST00000496972.2_Missense_Mutation_p.L114V|DTNB_ENST00000404103.3_Missense_Mutation_p.L171V|DTNB_ENST00000407186.1_Missense_Mutation_p.L171V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	171						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCCTTCAGAAACTGGTCA	0.423													16	29					0	0	0	0	C	25819047	G	C	25819047	3	2	476	1	0	0	0	0	1	0	0	0	4825	933	33	2	1432	2	DTNB	2	25819047	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	16334136	25819047	217380326	19	91527											
ABHD1	84696	broad.mit.edu	37	chr2	27351467	27351467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcccctagtcctttatcaGaggtaagaagggacagaaca	14	7	10	10	0	1	3	1	0	0	3	2	4	2	4	3	2	2	1	3	2	5	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:27351467G>C	ENST00000316470.4	+	2	387	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	91						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTTATCAGAGGTAAGAAG	0.468													26	50					0	0	0	0	C	27351467	G	C	27351467	3	2	476	1	0	0	0	0	1	0	0	0	73	933	33	2	279	2	ABHD1	2	27351467	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	1532420	27351467	215847906	20	91528											
PREPL	9581	broad.mit.edu	37	chr2	44548994	44548994	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaatcctcaattacatgaTtgcctccaggctgaatatct	12	12	7	10	0	2	3	1	2	1	1	4	4	4	3	3	1	2	1	3	1	5	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:44548994T>C	ENST00000541738.1	-	13	2185	c.1799A>G	c.(1798-1800)aAt>aGt	p.N600S	PREPL_ENST00000409272.1_Missense_Mutation_p.N689S|PREPL_ENST00000409957.1_Missense_Mutation_p.N600S|PREPL_ENST00000378520.3_Missense_Mutation_p.N623S|PREPL_ENST00000260648.6_Missense_Mutation_p.N689S|PREPL_ENST00000410081.1_Missense_Mutation_p.N689S|PREPL_ENST00000409936.1_Missense_Mutation_p.N689S|PREPL_ENST00000409411.1_Missense_Mutation_p.N600S|PREPL_ENST00000378511.3_Missense_Mutation_p.N627S	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	689					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AATTACATGATTGCCTCCAGG	0.383													12	34					0	0	0	0	C	44548994	T	C	44548994	3	2	476	1	0	0	0	0	1	0	0	0	12555	1493	52	5	125	5	PREPL	2	44548994	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	17197527	44548994	198650379	21	91529											
ACTG2	72	broad.mit.edu	37	chr2	74141917	74141917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccctggagaagagctatGagctgccagatgggcaggtt	9	8	14	10	0	0	4	0	1	0	3	1	5	1	4	3	3	3	4	3	3	2	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:74141917G>C	ENST00000409624.1	+	8	1367	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	ACTG2_ENST00000409731.3_Missense_Mutation_p.E199Q|ACTG2_ENST00000345517.3_Missense_Mutation_p.E242Q			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	242					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GAAGAGCTATGAGCTGCCAGA	0.537													16	42					0	0	0	0	C	74141917	G	C	74141917	3	2	476	1	0	0	0	0	1	0	0	0	197	1291	45	2	746	2	ACTG2	2	74141917	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	29592923	74141917	169057456	22	91530											
REG3A	5068	broad.mit.edu	37	chr2	79386510	79386510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcatccaagatacactggGcagggccatgggaggcagca	12	4	14	11	0	0	1	0	0	0	1	1	2	1	2	2	4	3	4	2	4	2	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:79386510G>T	ENST00000393878.1	-	1	276	c.22C>A	c.(22-24)Ccc>Acc	p.P8T	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Missense_Mutation_p.P8T|REG3A_ENST00000305165.2_Missense_Mutation_p.P8T	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	8					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GATACACTGGGCAGGGCCATG	0.532													11	42					2.27111e-07	2.32959e-07	1	0	T	79386510	G	T	79386510	3	4	476	1	0	0	0	0	1	0	0	0	13294	1203	42	4	525	4	REG3A	2	79386510	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	5244593	79386510	163812863	23	91531											
LRRTM1	347730	broad.mit.edu	37	chr2	80530351	80530351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagagttgcgcgccagactCttgagctgattgtatccgat	10	11	11	9	3	1	4	0	2	1	2	2	5	2	4	2	0	2	3	2	0	2	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:80530351C>G	ENST00000295057.3	-	2	1250	c.594G>C	c.(592-594)aaG>aaC	p.K198N	CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.K198N|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	198						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				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						GCGCCAGACTCTTGAGCTGAT	0.587										HNSCC(69;0.2)			33	81					0	0	0	0	G	80530351	C	G	80530351	3	3	476	1	0	0	0	0	1	0	0	0	9103	912	32	2	978	2	LRRTM1	2	80530351	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	1143841	80530351	162669022	24	91532											
LRRTM1	347730	broad.mit.edu	37	chr2	80530608	80530608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagttccttaactcggcGcagtttctgaaaggcgtccc	7	11	11	12	4	1	2	0	2	1	0	4	2	3	2	2	2	1	3	2	2	2	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:80530608G>A	ENST00000295057.3	-	2	993	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R113C|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	113						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				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						TTAACTCGGCGCAGTTTCTGA	0.597										HNSCC(69;0.2)			5	140					0	0	0	0	A	80530608	G	A	80530608	3	1	476	1	0	0	0	0	1	0	0	0	9103	1087	38	1	1235	1	LRRTM1	2	80530608	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	257	80530608	162668765	25	91533											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381701	144381701	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctcctcgtgttttcccaGaagagaagctgaatttggac	9	14	9	9	1	1	3	0	1	1	2	4	5	2	4	2	1	1	2	2	1	3	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:144381701G>A	ENST00000295095.6	+	12	1170		c.e12-1			NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15						regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGTTTTCCCAGAAGAGAAGCT	0.453													14	40					0	0	0	0	A	144381701	G	A	144381701	5	1	476	1	0	0	0	0	0	0	1	0	868	956	33	2	1045	2	ARHGAP15	2	144381701	Splice_Site	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	63851093	144381701	98817672	26	91534											
ITGB6	3694	broad.mit.edu	37	chr2	161029180	161029180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgtccattccaaaatgaGaatcagcatcactcacaaag	15	9	6	11	0	3	1	3	1	0	1	5	2	5	1	2	0	2	2	2	0	4	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:161029180G>A	ENST00000283249.2	-	6	1058	c.821C>T	c.(820-822)tCt>tTt	p.S274F	ITGB6_ENST00000428609.2_Missense_Mutation_p.S232F|ITGB6_ENST00000409872.1_Missense_Mutation_p.S274F|ITGB6_ENST00000409967.2_Missense_Mutation_p.S274F|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	274	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCAAAATGAGAATCAGCATC	0.453													37	93					0	0	0	0	A	161029180	G	A	161029180	3	1	476	1	0	0	0	0	1	0	0	0	7952	942	33	2	1585	2	ITGB6	2	161029180	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	16647479	161029180	82170193	27	91535											
HOXD4	3233	broad.mit.edu	37	chr2	177017499	177017499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcggagcgccagatcaaGatctggttccagaaccggag	10	7	13	11	3	2	3	1	0	1	3	4	5	3	5	3	3	2	1	3	3	2	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:177017499G>C	ENST00000306324.3	+	2	1009	c.597G>C	c.(595-597)aaG>aaC	p.K199N	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCAGATCAAGATCTGGTTCC	0.478													14	61					0	0	0	0	C	177017499	G	C	177017499	3	2	476	1	0	0	0	0	1	0	0	0	7374	933	33	2	603	2	HOXD4	2	177017499	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	15988319	177017499	66181874	28	91536											
TTN	7273	broad.mit.edu	37	chr2	179587808	179587808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctccacaaacatcccttCctgcctcattttcaatctcg	9	12	4	16	1	3	0	2	0	1	0	7	1	6	0	4	0	3	1	4	0	2	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:179587808C>T	ENST00000589042.1	-	75	22150	c.21926G>A	c.(21925-21927)gGa>gAa	p.G7309E	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6992E|TTN_ENST00000342992.6_Missense_Mutation_p.G6065E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6992	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACATCCCTTCCTGCCTCATT	0.378													15	26					0	0	0	0	T	179587808	C	T	179587808	3	4	476	1	0	0	0	0	1	0	0	0	16831	855	30	2	82755	2	TTN	2	179587808	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2570309	179587808	63611565	29	91537											
ITGA4	3676	broad.mit.edu	37	chr2	182346359	182346359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcattttcggagccaGcatactaccgaagtagtcgg	9	10	12	10	3	1	0	1	0	0	0	3	2	1	1	2	3	4	3	2	3	4	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:182346359G>A	ENST00000397033.2	+	7	1219	c.789G>A	c.(787-789)caG>caA	p.Q263Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	263					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTCGGAGCCAGCATACTACCG	0.373													3	16					0	0	0	0	A	182346359	G	A	182346359	2	1	476	1	0	0	0	0	0	0	0	1	7931	962	34	4		4	ITGA4	2	182346359	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	2758551	182346359	60853014	30	91538											
STAT4	6775	broad.mit.edu	37	chr2	191937885	191937885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctgtctttctgaaactGaagaactttgtaaggatttc	10	16	7	8	0	3	3	0	2	3	1	5	4	4	4	1	1	2	1	1	1	4	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:191937885G>A	ENST00000392320.2	-	5	718	c.404C>T	c.(403-405)tCa>tTa	p.S135L	STAT4_ENST00000358470.4_Missense_Mutation_p.S135L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	135					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTCTGAAACTGAAGAACTTTG	0.388													28	98					0	0	0	0	A	191937885	G	A	191937885	3	1	476	1	0	0	0	0	1	0	0	0	15357	1294	45	2	1922	2	STAT4	2	191937885	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	9591526	191937885	51261488	31	91539											
SGOL2	151246	broad.mit.edu	37	chr2	201437151	201437151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgggtttgcaaaagcaGatcaccaatatgtaccccgt	11	11	10	9	1	1	1	1	0	0	1	1	1	1	1	3	1	3	5	3	1	5	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:201437151G>T	ENST00000357799.4	+	7	2180	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	694					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGCAAAAGCAGATCACCAATA	0.363													14	40					1.52009e-12	1.60045e-12	1	0	T	201437151	G	T	201437151	3	4	476	1	0	0	0	0	1	0	0	0	14304	933	33	2	2104	2	SGOL2	2	201437151	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	9499266	201437151	41762222	32	91540											
RAD18	56852	broad.mit.edu	37	chr3	8944093	8944093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagatagcttttctgtaGattcatcttcttttgttatt	9	20	6	6	0	4	3	1	0	3	3	4	3	4	3	0	0	1	3	0	0	4	10			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:8944093G>C	ENST00000264926.2	-	10	1255	c.1139C>G	c.(1138-1140)tCt>tGt	p.S380C		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	380					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTTTTCTGTAGATTCATCTTC	0.299								Rad6 pathway					28	23					0	0	0	0	C	8944093	G	C	8944093	3	2	476	1	0	0	0	0	1	0	0	0	13062	942	33	2	364	2	RAD18	3	8944093	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		8944093	189078337	33	91541											
NKIRAS1	28512	broad.mit.edu	37	chr3	23942311	23942311	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacttgcctcttttttgtcTttgaacttatcgatttcttt	5	22	4	10	1	3	1	0	1	3	0	4	2	3	1	2	0	2	0	2	0	2	8			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:23942311T>C	ENST00000443659.2	-	3	1101	c.324A>G	c.(322-324)aaA>aaG	p.K108K	NKIRAS1_ENST00000437230.1_Silent_p.K108K|NKIRAS1_ENST00000415901.2_Silent_p.K108K|NKIRAS1_ENST00000416026.2_Silent_p.K108K|NKIRAS1_ENST00000421515.2_Silent_p.K108K|NKIRAS1_ENST00000425478.2_Silent_p.K108K|NKIRAS1_ENST00000412028.1_Silent_p.K108K|NKIRAS1_ENST00000388759.3_Silent_p.K108K			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	108					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CTTTTTTGTCTTTGAACTTAT	0.323													22	11					0	0	0	0	C	23942311	T	C	23942311	2	2	476	1	0	0	0	0	0	0	0	1	10514	1606	56	5		5	NKIRAS1	3	23942311	Silent	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	14998218	23942311	174080119	34	91542											
TGFBR2	7048	broad.mit.edu	37	chr3	30729875	30729875	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgctggctttcttcacaGaagtaaaagattatgagcct	11	14	9	7	0	2	3	1	1	1	2	2	3	2	3	1	1	2	4	1	1	4	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:30729875G>A	ENST00000295754.5	+	6	1778		c.e6-1		TGFBR2_ENST00000359013.4_Splice_Site	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)						activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTTCTTCACAGAAGTAAAAGA	0.512													37	32					0	0	0	0	A	30729875	G	A	30729875	5	1	476	1	0	0	0	0	0	0	1	0	15916	956	33	2	1497	2	TGFBR2	3	30729875	Splice_Site	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	6787564	30729875	167292555	35	91543											
TMPPE	643853	broad.mit.edu	37	chr3	33134654	33134654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagatccatgccatggccaGagtagtgcaggatgtctgct	10	9	12	10	0	1	2	0	0	1	2	2	3	2	3	3	2	3	3	3	2	2	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:33134654G>A	ENST00000342462.4	-	2	1224	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	TMPPE_ENST00000416695.2_Missense_Mutation_p.S208F|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	345						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GCCATGGCCAGAGTAGTGCAG	0.592													73	45					0	0	0	0	A	33134654	G	A	33134654	3	1	476	1	0	0	0	0	1	0	0	0	16332	942	33	2	331	2	TMPPE	3	33134654	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	2404779	33134654	164887776	36	91544											
CAMKV	79012	broad.mit.edu	37	chr3	49899497	49899497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcttgaggatgcctatctCgttcttggcagctttccgca	6	14	9	12	2	3	1	0	1	3	0	5	2	4	2	2	2	2	4	2	2	1	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:49899497C>T	ENST00000477224.1	-	3	686	c.208G>A	c.(208-210)Gag>Aag	p.E70K	CAMKV_ENST00000463537.1_Missense_Mutation_p.E70K|CAMKV_ENST00000296471.7_Missense_Mutation_p.E70K|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000488336.1_Missense_Mutation_p.E70K|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000466940.1_Missense_Mutation_p.E70K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	70	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATGCCTATCTCGTTCTTGGCA	0.597													15	8					0	0	0	0	T	49899497	C	T	49899497	3	4	476	1	0	0	0	0	1	0	0	0	2633	893	31	1	1333	1	CAMKV	3	49899497	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	16764843	49899497	148122933	37	91545											
VPRBP	9730	broad.mit.edu	37	chr3	51497226	51497226	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggctctcggcttgtcatCacatatgcattcaccagctg	7	11	11	12	1	4	0	3	0	1	0	5	0	4	0	1	3	2	4	1	3	1	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:51497226C>G	ENST00000335891.5	-	4	288	c.279G>C	c.(277-279)gtG>gtC	p.V93V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	93					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGCTTGTCATCACATATGCAT	0.398													8	11					0	0	0	0	G	51497226	C	G	51497226	2	3	476	1	0	0	0	0	0	0	0	1	17281	813	29	2		2	VPRBP	3	51497226	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	1597729	51497226	146525204	38	91546											
ROBO1	6091	broad.mit.edu	37	chr3	79639112	79639112	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgacagacaatgtgttatCtggggagattaaaaaaatat	17	11	10	3	0	1	3	0	1	1	2	1	4	1	3	0	2	0	1	0	2	7	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:79639112C>G	ENST00000464233.1	-	2	64		c.e2-1			NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AATGTGTTATCTGGGGAGATT	0.333													25	21					0	0	0	0	G	79639112	C	G	79639112	5	3	476	1	0	0	0	0	0	0	1	0	13598	927	32	2		2	ROBO1	3	79639112	Splice_Site	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	28141886	79639112	118383318	39	91547											
STXBP5L	9515	broad.mit.edu	37	chr3	121097619	121097619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagttgcagttctggaaaaCgtctttctagtgccgatgtt	9	14	11	7	2	3	1	0	0	3	1	3	3	3	2	1	1	3	4	1	1	3	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:121097619C>T	ENST00000273666.6	+	22	2576	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	STXBP5L_ENST00000492541.1_Missense_Mutation_p.R769C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R745C|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R745C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	769					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTCTGGAAAACGTCTTTCTAG	0.463													8	15					0	0	0	0	T	121097619	C	T	121097619	3	4	476	1	0	0	0	0	1	0	0	0	15447	536	19	1	2387	1	STXBP5L	3	121097619	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	41458507	121097619	76924811	40	91548											
GOLGB1	2804	broad.mit.edu	37	chr3	121410218	121410218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaacacaaaccaattcttCttccagttctgcaattctct	11	15	3	12	0	4	1	0	1	4	0	6	1	5	1	2	0	3	2	2	0	4	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:121410218C>T	ENST00000393667.3	-	14	8103	c.7993G>A	c.(7993-7995)Gaa>Aaa	p.E2665K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2660K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2660					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACCAATTCTTCTTCCAGTTCT	0.373													36	113					0	0	0	0	T	121410218	C	T	121410218	3	4	476	1	0	0	0	0	1	0	0	0	6613	922	32	2	1837	2	GOLGB1	3	121410218	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	312599	121410218	76612212	41	91549											
WDR5B	54554	broad.mit.edu	37	chr3	122133836	122133836	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctacctgacactatcaaGgacccactacaattaaaatg	16	9	5	11	0	1	1	1	1	0	0	1	2	1	2	2	1	3	1	2	1	8	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:122133836G>T	ENST00000330689.4	-	1	1046	c.540C>A	c.(538-540)tcC>tcA	p.S180S		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	180										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		ACACTATCAAGGACCCACTAC	0.433													24	67					3.28513e-13	3.47409e-13	1	0	T	122133836	G	T	122133836	2	4	476	1	0	0	0	0	0	0	0	1	17405	987	35	4		4	WDR5B	3	122133836	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	723618	122133836	75888594	42	91550											
PIGG	54872	broad.mit.edu	37	chr4	524368	524370	+	In_Frame_Del	DEL	TTC	TTC	-																															ggagatatatagtggattagTtcttctggcagccttgctct																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:524368_524370delTTC	ENST00000453061.2	+	11	2511_2513	c.2405_2407delTTC	c.(2404-2409)gtt>g	p.VL802del	PIGG_ENST00000310340.5_In_Frame_Del_p.VL794del|PIGG_ENST00000383028.4_In_Frame_Del_p.VL669del|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_In_Frame_Del_p.VL713del	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	802					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGTGGATTAGTTCTTCTGGCAGC	0.414													52	145	---	---	---	---					-	524370	TTC	-	524368	7	5	476	1	0	1	0	1	0	0	0	0	11960	1725	60	0	2447	0	PIGG	4	524368	In_Frame_Del	DEL	TTC	TCGA-QK-A6II-01A-11D-A31L-08		524368	190629908	43	91551											
PCDH7	5099	broad.mit.edu	37	chr4	30723310	30723310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagctgagcacgagcgagcGgcgcatcgaccgcgagaagc	10	2	16	13	8	0	2	0	1	0	1	1	7	0	2	1	1	5	3	1	1	1	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:30723310G>A	ENST00000361762.2	+	1	1274	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.R89Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	89	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACGAGCGAGCGGCGCATCGAC	0.617													4	27					0	0	0	0	A	30723310	G	A	30723310	3	1	476	1	0	0	0	0	1	0	0	0	11587	1116	39	1	268	1	PCDH7	4	30723310	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	30198942	30723310	160430966	44	91552											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	12	4	9	16	1	2	0	2	0	0	0	4	0	3	0	2	0	8	8	2	0	0	0	rs71828885		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577													4	44					0	0	0	0	C	79792085	G	C	79792085	3	2	476	1	0	0	0	0	1	0	0	0	1465	962	34	4	1422	4	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	49068775	79792085	111362191	45	91553											
PITX2	5308	broad.mit.edu	37	chr4	111539828	111539828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctccatttggcccgaCgattcttgaaccaaacctgg	8	13	7	13	2	3	1	0	1	3	0	4	3	3	1	4	2	2	0	4	2	2	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:111539828C>T	ENST00000354925.2	-	7	2112	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PITX2_ENST00000355080.5_Missense_Mutation_p.R90H|PITX2_ENST00000394598.2_Missense_Mutation_p.R136H|PITX2_ENST00000394595.3_Silent_p.S67S|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.R143H	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	136			R -> C (in RIEG1).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTTGGCCCGACGATTCTTGAA	0.582													19	81					0	0	0	0	T	111539828	C	T	111539828	3	4	476	1	0	0	0	0	1	0	0	0	12027	536	19	1	550	1	PITX2	4	111539828	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	31747743	111539828	79614448	46	91554											
CLGN	1047	broad.mit.edu	37	chr4	141317106	141317106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgaggtgcctcccattctCcatccgtgtcttcattcctt	4	16	6	15	1	4	1	1	1	3	0	8	1	7	1	5	1	1	0	5	1	0	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:141317106C>T	ENST00000325617.5	-	10	1456	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	CLGN_ENST00000414773.1_Missense_Mutation_p.G339E|CLGN_ENST00000537281.1_Missense_Mutation_p.G339E	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	339					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTCCCATTCTCCATCCGTGTC	0.398													13	41					0	0	0	0	T	141317106	C	T	141317106	3	4	476	1	0	0	0	0	1	0	0	0	3554	855	30	2	840	2	CLGN	4	141317106	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	29777278	141317106	49837170	47	91555											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	14	9	9	9	1	1	2	1	1	0	1	1	3	1	3	1	1	4	3	1	1	5	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:153249385G>C	ENST00000281708.4	-	9	2622	c.1393C>G	c.(1393-1395)Cgt>Ggt	p.R465G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								24	100					0	0	0	0	C	153249385	G	C	153249385	3	2	476	1	0	0	0	0	1	0	0	0	5814	1087	38	3	746	3	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	11932279	153249385	37904891	48	91556											
FHDC1	85462	broad.mit.edu	37	chr4	153881969	153881969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcttctctatatacagatAtaacagttttaagaactgct	13	15	5	8	0	2	2	0	0	2	2	3	2	2	2	0	0	4	3	0	0	7	8			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:153881969A>G	ENST00000511601.1	+	6	1011	c.823A>G	c.(823-825)Ata>Gta	p.I275V	FHDC1_ENST00000260008.3_Missense_Mutation_p.I275V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	275	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATATACAGATATAACAGTTTT	0.308													3	20					0	0	0	0	G	153881969	A	G	153881969	3	3	476	1	0	0	0	0	1	0	0	0	5921	449	16	5	841	5	FHDC1	4	153881969	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	632584	153881969	37272307	49	91557											
GALNTL6	442117	broad.mit.edu	37	chr4	173232894	173232894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctctgccagatattcGtcatgctaagtgagtatcag	10	12	11	8	1	3	2	2	1	1	1	5	3	3	2	1	1	2	2	1	1	3	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:173232894G>A	ENST00000506823.1	+	4	1034	c.377G>A	c.(376-378)cGt>cAt	p.R126H	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.R109H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	126						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCAGATATTCGTCATGCTAAG	0.373													41	128					0	0	0	0	A	173232894	G	A	173232894	3	1	476	1	0	0	0	0	1	0	0	0	6274	1145	40	1	387	1	GALNTL6	4	173232894	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	19350925	173232894	17921382	50	91558											
FAT1	2195	broad.mit.edu	37	chr4	187535448	187535448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtagcagagatctgcatGatcaattttccaggaaggac	12	11	10	8	0	3	2	1	1	2	1	4	5	4	4	1	2	2	3	1	2	3	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:187535448G>C	ENST00000441802.2	-	12	9335	c.9126C>G	c.(9124-9126)atC>atG	p.I3042M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3042	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGATCTGCATGATCAATTTTC	0.388										HNSCC(5;0.00058)			13	41					0	0	0	0	C	187535448	G	C	187535448	3	2	476	1	0	0	0	0	1	0	0	0	5734	1280	45	2	4704	2	FAT1	4	187535448	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	14302554	187535448	3618828	51	91559											
FAT1	2195	broad.mit.edu	37	chr4	187540475	187540475	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaatactgcaacttgtctAtgtctgaactgtctgcatca	10	14	8	9	0	4	1	1	1	3	0	4	2	4	2	0	1	5	2	0	1	5	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:187540475A>T	ENST00000441802.2	-	10	7474	c.7265T>A	c.(7264-7266)aTa>aAa	p.I2422K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2422	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAACTTGTCTATGTCTGAACT	0.448										HNSCC(5;0.00058)			15	37					0	0	0	0	T	187540475	A	T	187540475	3	4	476	1	0	0	0	0	1	0	0	0	5734	449	16	5	6573	5	FAT1	4	187540475	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	5027	187540475	3613801	52	91560											
CDH9	1007	broad.mit.edu	37	chr5	26915839	26915839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatgataaattccgattccGgttccacctgccgcccagtt	9	12	7	13	3	0	1	0	1	0	0	3	2	3	1	6	1	1	2	6	1	3	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:26915839G>A	ENST00000231021.4	-	3	594	c.422C>T	c.(421-423)cCg>cTg	p.P141L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	141	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCGATTCCGGTTCCACCTG	0.398													33	77					0	0	0	0	A	26915839	G	A	26915839	3	1	476	1	0	0	0	0	1	0	0	0	3146	1116	39	1	1987	1	CDH9	5	26915839	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		26915839	153999421	53	91561											
AGGF1	55109	broad.mit.edu	37	chr5	76349813	76349813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaactaaatgtgacccttaCgtacttgagcatggagatga	15	10	9	7	1	0	4	0	3	0	1	0	5	0	4	1	1	4	2	1	1	6	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:76349813C>T	ENST00000312916.7	+	10	1873	c.1491C>T	c.(1489-1491)taC>taT	p.Y497Y		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	497					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GTGACCCTTACGTACTTGAGC	0.403													24	51					0	0	0	0	T	76349813	C	T	76349813	2	4	476	1	0	0	0	0	0	0	0	1	382	547	19	1		1	AGGF1	5	76349813	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	49433974	76349813	104565447	54	91562											
MYOT	9499	broad.mit.edu	37	chr5	137206631	137206631	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtccccagccagcttcctCagctccatattaccatcaca	10	9	4	18	0	2	0	2	0	0	0	5	0	5	0	6	0	4	2	6	0	2	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:137206631C>G	ENST00000239926.4	+	2	665	c.291C>G	c.(289-291)ctC>ctG	p.L97L	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_5'UTR|MYOT_ENST00000421631.2_Intron	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	97	Necessary for interaction with ACTN1.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGCTTCCTCAGCTCCATAT	0.478													11	45					0	0	0	0	G	137206631	C	G	137206631	2	3	476	1	0	0	0	0	0	0	0	1	10164	813	29	2		2	MYOT	5	137206631	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	60856818	137206631	43708629	55	91563											
CXXC5	51523	broad.mit.edu	37	chr5	139060867	139060867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagctggcctctgccatCagctccggcaagaagaagcg	10	5	14	12	2	2	3	1	0	1	3	3	4	3	3	3	3	4	3	3	3	3	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:139060867C>T	ENST00000302517.3	+	2	1473	c.759C>T	c.(757-759)atC>atT	p.I253I	CXXC5_ENST00000511048.1_Silent_p.I253I|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	253					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGCCATCAGCTCCGGCA	0.632													29	76					0	0	0	0	T	139060867	C	T	139060867	2	4	476	1	0	0	0	0	0	0	0	1	4131	816	29	2		2	CXXC5	5	139060867	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	1854236	139060867	41854393	56	91564											
CXXC5	51523	broad.mit.edu	37	chr5	139061005	139061005	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagaaaatgtgaggaactCaaaaagaagccttccgctgc	15	8	9	9	1	2	3	2	1	0	2	3	4	3	4	2	1	3	1	2	1	6	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:139061005C>G	ENST00000302517.3	+	2	1611	c.897C>G	c.(895-897)ctC>ctG	p.L299L	CXXC5_ENST00000511048.1_Silent_p.L299L|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	299					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGAACTCAAAAAGAAGC	0.567													42	133					0	0	0	0	G	139061005	C	G	139061005	2	3	476	1	0	0	0	0	0	0	0	1	4131	813	29	2		2	CXXC5	5	139061005	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	138	139061005	41854255	57	91565											
PCDHA2	56146	broad.mit.edu	37	chr5	140176983	140176983	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctaaaattgttctttttAaaaaattctatatgatttct	14	21	2	4	0	4	1	0	1	4	0	4	1	4	1	0	0	0	1	0	0	7	11			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:140176983A>T	ENST00000378132.1	+	1	2540	c.2434A>T	c.(2434-2436)Aaa>Taa	p.K812*	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031495.1	NP_113683.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTTTTTAAAAAATTCTA	0.308													8	15					0	0	0	0	T	140176983	A	T	140176983	4	4	476	1	0	0	0	0	0	1	0	0	11595	363	13	5	2436	5	PCDHA2	5	140176983	Nonsense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	1115978	140176983	40738277	58	91566											
PCDHA13	56136	broad.mit.edu	37	chr5	140262180	140262180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatccacctggaggtgatCgtggacaggcctctgcaggt	8	8	14	11	1	1	1	0	1	1	0	3	3	2	3	3	5	2	2	3	5	0	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:140262180C>T	ENST00000289272.2	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.I109I|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGACAGGC	0.522													60	123					0	0	0	0	T	140262180	C	T	140262180	2	4	476	1	0	0	0	0	0	0	0	1	11594	874	31	1		1	PCDHA13	5	140262180	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	85197	140262180	40653080	59	91567											
GABRA6	2559	broad.mit.edu	37	chr5	161113252	161113252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggctagaaaatgccctaGggaaactcgaagttgaaggc	15	6	12	8	1	0	2	0	1	0	1	1	4	0	3	1	3	2	2	1	3	7	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:161113252G>A	ENST00000523217.1	+	2	297	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.G19R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	19					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAATGCCCTAGGGAAACTCGA	0.473										TCGA Ovarian(5;0.080)			15	32					0	0	0	0	A	161113252	G	A	161113252	3	1	476	1	0	0	0	0	1	0	0	0	6213	1000	35	4	61	4	GABRA6	5	161113252	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	20851072	161113252	19802008	60	91568											
NKX2-5	1482	broad.mit.edu	37	chr5	172659656	172659656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaccgcattcaagtccccGacgccgaagttcacgaagtt	11	8	9	13	5	2	1	2	1	0	0	3	4	3	1	4	0	1	3	4	0	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:172659656G>A	ENST00000329198.4	-	2	1164	c.891C>T	c.(889-891)gtC>gtT	p.V297V		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	297					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAAGTCCCCGACGCCGAAGT	0.667													10	24					0	0	0	0	A	172659656	G	A	172659656	2	1	476	1	0	0	0	0	0	0	0	1	10523	1045	37	1		1	NKX2-5	5	172659656	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	11546404	172659656	8255604	61	91569											
ZFP2	80108	broad.mit.edu	37	chr5	178359177	178359177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcaactcttaccctacAtcagcgaaatcacactggag	13	8	7	13	1	4	0	3	0	1	0	4	3	4	1	1	1	5	1	1	1	4	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:178359177A>G	ENST00000361362.2	+	5	1393	c.863A>G	c.(862-864)cAt>cGt	p.H288R	ZFP2_ENST00000503510.2_Missense_Mutation_p.H288R|ZFP2_ENST00000523286.1_Missense_Mutation_p.H288R|ZFP2_ENST00000520301.1_Missense_Mutation_p.H288R	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CTTACCCTACATCAGCGAAAT	0.378													19	69					0	0	0	0	G	178359177	A	G	178359177	3	3	476	1	0	0	0	0	1	0	0	0	17736	217	8	5	865	5	ZFP2	5	178359177	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	5699521	178359177	2556083	62	91570											
RNF182	221687	broad.mit.edu	37	chr6	13977405	13977405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcaggcctctgatgagctgGagtgcaaaatctgttacaat	11	11	10	9	0	3	2	1	2	2	0	3	3	3	3	1	2	3	3	1	2	4	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:13977405G>C	ENST00000488300.1	+	3	578	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	RNF182_ENST00000537663.1_Missense_Mutation_p.E19Q|RNF182_ENST00000544682.1_Missense_Mutation_p.E19Q|RNF182_ENST00000537388.1_Missense_Mutation_p.E19Q	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	19						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGATGAGCTGGAGTGCAAAAT	0.458													26	82					0	0	0	0	C	13977405	G	C	13977405	3	2	476	1	0	0	0	0	1	0	0	0	13551	1175	41	2	57	2	RNF182	6	13977405	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		13977405	157137662	63	91571											
KIF13A	63971	broad.mit.edu	37	chr6	17796915	17796915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacctgtcatgcagtgttCttgtcttagcatgaagagaa	12	12	9	8	0	3	2	1	1	2	1	3	3	3	2	1	0	3	3	1	0	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:17796915C>T	ENST00000378814.5	-	23	2926	c.2927G>A	c.(2926-2928)aGa>aAa	p.R976K	KIF13A_ENST00000378816.5_Missense_Mutation_p.R976K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R976K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R976K|KIF13A_ENST00000259711.6_Missense_Mutation_p.R976K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	976					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGCAGTGTTCTTGTCTTAGC	0.498													39	101					0	0	0	0	T	17796915	C	T	17796915	3	4	476	1	0	0	0	0	1	0	0	0	8325	913	32	2	2583	2	KIF13A	6	17796915	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	3819510	17796915	153318152	64	91572											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031895	26031895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttacgctctttctccgcGaatgcggcgagcgagctgga	7	10	12	12	6	2	0	0	0	2	0	3	4	2	1	1	2	4	2	1	2	2	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:26031895G>A	ENST00000244661.2	-	1	393	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	132					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTTTCTCCGCGAATGCGGCGA	0.478													17	43					0	0	0	0	A	26031895	G	A	26031895	3	1	476	1	0	0	0	0	1	0	0	0	7206	1058	37	1	20	1	HIST1H3B	6	26031895	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	8234980	26031895	145083172	65	91573											
PKHD1	5314	broad.mit.edu	37	chr6	51612982	51612982	+	Silent	SNP	G	G	A																															ttgaaagccaagaagccagaGattctggtacagttgtcaag																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:51612982G>A	ENST00000371117.3	-	58	9707	c.9432C>T	c.(9430-9432)atC>atT	p.I3144I	PKHD1_ENST00000340994.4_Silent_p.I3144I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3144					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAAGCCAGAGATTCTGGTAC	0.433													63	144					0	0	0	0	A	51612982	G	A	51612982	2	1	476	1	0	0	0	0	0	0	0	1	12043	932	33	2		2	PKHD1	6	51612982	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	25581087	51612982	119502085	66	91574	1120	2									
PKHD1	5314	broad.mit.edu	37	chr6	51612983	51612983	+	Missense_Mutation	SNP	A	A	G																															tgaaagccaagaagccagagAttctggtacagttgtcaagt																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:51612983A>G	ENST00000371117.3	-	58	9706	c.9431T>C	c.(9430-9432)aTc>aCc	p.I3144T	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3144T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3144					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGCCAGAGATTCTGGTACA	0.428													63	143					0	0	0	0	G	51612983	A	G	51612983	3	3	476	1	0	0	0	0	1	0	0	0	12043	333	12	5	2872	5	PKHD1	6	51612983	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	1	51612983	119502084	67	91575	1120	2									
EYS	346007	broad.mit.edu	37	chr6	66112497	66112497	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacagatgcacataacaTcctaggaaagattaaaaaaa	21	7	7	6	0	0	3	0	1	0	2	1	4	1	4	1	1	3	1	1	1	8	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:66112497T>A	ENST00000503581.1	-	7	1595	c.1056_splice	c.e7-1	p.D353_splice	EYS_ENST00000370618.3_Splice_Site_p.D353_splice|EYS_ENST00000370621.3_Splice_Site_p.D353_splice|EYS_ENST00000342421.5_Splice_Site_p.D353_splice|EYS_ENST00000370616.2_Splice_Site_p.D353_splice|EYS_ENST00000393380.2_Splice_Site_p.D353_splice	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	353	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCACATAACATCCTAGGAAAG	0.303													10	22					0	0	0	0	A	66112497	T	A	66112497	5	1	476	1	0	0	0	0	0	0	1	0	5370	1449	50	5	8486	5	EYS	6	66112497	Splice_Site	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	14499514	66112497	105002570	68	91576											
FAM46A	55603	broad.mit.edu	37	chr6	82461310	82461310	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctcgggtggtgttaccttGagcgtgagtggtgtgatctt	5	15	15	6	2	2	3	0	3	2	0	3	3	2	3	1	3	2	1	1	3	1	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:82461310G>C	ENST00000369754.3	-	2	918	c.606C>G	c.(604-606)ctC>ctG	p.L202L	FAM46A_ENST00000320172.6_Silent_p.L183L|FAM46A_ENST00000369756.3_Silent_p.L264L			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	183										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GTGTTACCTTGAGCGTGAGTG	0.577													15	44					0	0	0	0	C	82461310	G	C	82461310	2	2	476	1	0	0	0	0	0	0	0	1	5612	1277	45	2		2	FAM46A	6	82461310	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	16348813	82461310	88653757	69	91577											
MDN1	23195	broad.mit.edu	37	chr6	90409883	90409883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactgaacactcctggtgagGtggattacggaggtcaagtc	11	9	13	8	1	1	2	1	2	0	0	3	4	2	4	1	5	3	0	1	5	4	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:90409883G>A	ENST00000369393.3	-	57	8884	c.8769C>T	c.(8767-8769)caC>caT	p.H2923H	MDN1_ENST00000428876.1_Silent_p.H2923H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2923					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTGGTGAGGTGGATTACGG	0.478													17	52					0	0	0	0	A	90409883	G	A	90409883	2	1	476	1	0	0	0	0	0	0	0	1	9484	1252	44	4		4	MDN1	6	90409883	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	7948573	90409883	80705184	70	91578											
MAP3K7	6885	broad.mit.edu	37	chr6	91260237	91260237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctgaatactgacaaggaTactgtaatggctcatctgct	12	12	8	9	0	3	2	1	2	2	0	3	3	3	3	0	2	3	3	0	2	5	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:91260237T>C	ENST00000369329.3	-	9	1060	c.899A>G	c.(898-900)tAt>tGt	p.Y300C	MAP3K7_ENST00000369332.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.Y300C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	300					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			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)		CTGACAAGGATACTGTAATGG	0.333													3	16					0	0	0	0	C	91260237	T	C	91260237	3	2	476	1	0	0	0	0	1	0	0	0	9324	1406	49	5	957	5	MAP3K7	6	91260237	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	850354	91260237	79854830	71	91579											
SOBP	55084	broad.mit.edu	37	chr6	107824918	107824918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatggctatgataaggttGaattaaaagatggtgaggat	14	12	14	1	0	0	4	0	3	0	1	0	5	0	5	0	5	0	3	0	5	6	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:107824918G>A	ENST00000317357.5	+	2	813	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	52							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TGATAAGGTTGAATTAAAAGA	0.393													24	51					0	0	0	0	A	107824918	G	A	107824918	3	1	476	1	0	0	0	0	1	0	0	0	15000	1291	45	2	160	2	SOBP	6	107824918	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	16564681	107824918	63290149	72	91580											
STX11	8676	broad.mit.edu	37	chr6	144508214	144508214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgactacaaccaggccgaGatgaagcagcgcgacaactg	14	3	11	13	4	0	2	0	1	0	1	0	5	0	2	2	1	5	1	2	1	4	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:144508214G>T	ENST00000367568.4	+	2	633	c.450G>T	c.(448-450)gaG>gaT	p.E150D		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	150					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACCAGGCCGAGATGAAGCAGC	0.637									Familial Hemophagocytic Lymphohistiocytosis				15	32					1.15088e-07	1.1856e-07	1	0	T	144508214	G	T	144508214	3	4	476	1	0	0	0	0	1	0	0	0	15427	933	33	2	452	2	STX11	6	144508214	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	36683296	144508214	26606853	73	91581											
SHPRH	257218	broad.mit.edu	37	chr6	146264650	146264650	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttcatgttcttggttgaAttcagagatacatgtacttt	9	19	8	5	0	3	2	2	1	1	1	3	3	3	2	0	1	2	4	0	1	3	8			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:146264650A>C	ENST00000367503.3	-	9	2265	c.1867T>G	c.(1867-1869)Ttc>Gtc	p.F623V	SHPRH_ENST00000367505.2_Missense_Mutation_p.F623V|SHPRH_ENST00000438092.2_Missense_Mutation_p.F623V|SHPRH_ENST00000275233.7_Missense_Mutation_p.F623V	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	623					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTGGTTGAATTCAGAGATA	0.403													21	66					0	0	0	0	C	146264650	A	C	146264650	3	2	476	1	0	0	0	0	1	0	0	0	14379	101	4	5	3316	5	SHPRH	6	146264650	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	1756436	146264650	24850417	74	91582											
TNRC18	84629	broad.mit.edu	37	chr7	5410702	5410702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtggcagcggcgactccaGaggcggcagctctgtggggc	6	5	18	12	3	1	1	0	0	1	1	2	2	2	1	1	6	2	3	1	6	0	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:5410702G>C	ENST00000399537.4	-	11	3871	c.3523C>G	c.(3523-3525)Ctg>Gtg	p.L1175V	TNRC18_ENST00000430969.1_Missense_Mutation_p.L1175V			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1175	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCGACTCCAGAGGCGGCAGC	0.711													14	54					0	0	0	0	C	5410702	G	C	5410702	3	2	476	1	0	0	0	0	1	0	0	0	16433	933	33	2	5463	2	TNRC18	7	5410702	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		5410702	153727961	75	91583											
POU6F2	11281	broad.mit.edu	37	chr7	39504133	39504133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaaatgaccgaaattgctGagaagctgaactatgaccga	16	7	11	7	2	0	4	0	4	0	1	0	8	0	5	2	1	3	2	2	1	5	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:39504133G>C	ENST00000518318.2	+	10	1858	c.1816G>C	c.(1816-1818)Gag>Cag	p.E606Q	POU6F2_ENST00000559001.1_Missense_Mutation_p.E587Q|POU6F2_ENST00000403058.1_Missense_Mutation_p.E642Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	642					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CGAAATTGCTGAGAAGCTGAA	0.502													14	27					0	0	0	0	C	39504133	G	C	39504133	3	2	476	1	0	0	0	0	1	0	0	0	12356	1291	45	2	1962	2	POU6F2	7	39504133	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	34093431	39504133	119634530	76	91584											
ADCY1	107	broad.mit.edu	37	chr7	45750164	45750164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggctggagtgattggCgctcgcaggccccagtacga	6	8	17	10	3	0	1	0	1	0	0	1	3	0	2	2	5	1	4	2	5	1	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:45750164C>T	ENST00000297323.7	+	19	2992	c.2970C>T	c.(2968-2970)ggC>ggT	p.G990G		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	990					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAGTGATTGGCGCTCGCAGGC	0.577													45	63					0	0	0	0	T	45750164	C	T	45750164	2	4	476	1	0	0	0	0	0	0	0	1	292	755	27	1		1	ADCY1	7	45750164	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	6246031	45750164	113388499	77	91585											
AKAP9	10142	broad.mit.edu	37	chr7	91737898	91737898	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagagccctaacagattaTatcactcggctagaggcact	13	8	9	11	1	1	3	1	0	0	3	2	4	1	3	1	2	2	2	1	2	4	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:91737898T>C	ENST00000359028.2	+	49	11874	c.11649T>C	c.(11647-11649)taT>taC	p.Y3883Y	AKAP9_ENST00000356239.3_Silent_p.Y3879Y|AKAP9_ENST00000358100.2_Silent_p.Y3829Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3883					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAACAGATTATATCACTCGGC	0.478			T	BRAF	papillary thyroid								16	37					0	0	0	0	C	91737898	T	C	91737898	2	2	476	1	0	0	0	0	0	0	0	1	459	1413	49	5		5	AKAP9	7	91737898	Silent	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	45987734	91737898	67400765	78	91586											
SMURF1	57154	broad.mit.edu	37	chr7	98649936	98649936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctgtgcctgaagtctttGatcttgacttggggactcca	6	13	11	11	1	2	3	0	3	2	0	3	4	3	4	3	2	1	1	3	2	1	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:98649936G>C	ENST00000361125.1	-	7	932	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	SMURF1_ENST00000361368.2_Missense_Mutation_p.Q205E|SMURF1_ENST00000480055.1_5'UTR	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	205					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGAAGTCTTTGATCTTGACTT	0.592													27	68					0	0	0	0	C	98649936	G	C	98649936	3	2	476	1	0	0	0	0	1	0	0	0	14907	1299	45	2	1712	2	SMURF1	7	98649936	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	6912038	98649936	60488727	79	91587											
MYL10	93408	broad.mit.edu	37	chr7	101266313	101266313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccctcaagtcctctttgtCgatgaagccatcacggttct	7	13	8	13	2	4	1	2	1	2	0	7	2	6	1	3	1	1	1	3	1	2	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:101266313C>T	ENST00000223167.4	-	4	490	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	105	EF-hand 1.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCCTCTTTGTCGATGAAGCCA	0.627													11	39					0	0	0	0	T	101266313	C	T	101266313	3	4	476	1	0	0	0	0	1	0	0	0	10114	884	31	1	387	1	MYL10	7	101266313	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2616377	101266313	57872350	80	91588											
STRA8	346673	broad.mit.edu	37	chr7	134925454	134925454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgtactctcagtctgatCtcatagcctcaaaggtatgg	10	12	9	10	0	4	1	3	1	3	0	6	1	4	1	1	2	2	2	1	2	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:134925454C>T	ENST00000275764.3	+	2	244	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	82					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TCAGTCTGATCTCATAGCCTC	0.612													17	57					0	0	0	0	T	134925454	C	T	134925454	3	4	476	1	0	0	0	0	1	0	0	0	15413	913	32	2	250	2	STRA8	7	134925454	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	33659141	134925454	24213209	81	91589											
PDGFRL	5157	broad.mit.edu	37	chr8	17434770	17434770	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggttcccgagatgaaggtCtggctgctgcttggtcttct	5	13	14	9	1	3	2	0	1	3	1	4	4	4	2	1	4	2	4	1	4	1	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:17434770C>G	ENST00000541323.1	+	2	454	c.9C>G	c.(7-9)gtC>gtG	p.V3V	PDGFRL_ENST00000251630.6_Silent_p.V3V|PDGFRL_ENST00000398074.3_Silent_p.V3V	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	3						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AGATGAAGGTCTGGCTGCTGC	0.711											OREG0018579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	16					0	0	0	0	G	17434770	C	G	17434770	2	3	476	1	0	0	0	0	0	0	0	1	11734	900	32	2		2	PDGFRL	8	17434770	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08		17434770	128929252	82	91590											
ELP3	55140	broad.mit.edu	37	chr8	27995295	27995295	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgtgggaccgggctttaTgagctttggaaatcaggaag	10	11	14	6	2	1	1	1	1	0	0	2	4	1	4	1	4	1	2	1	4	3	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:27995295T>C	ENST00000256398.8	+	10	1364	c.987T>C	c.(985-987)taT>taC	p.Y329Y	ELP3_ENST00000521015.1_Silent_p.Y315Y|ELP3_ENST00000542181.1_Silent_p.Y200Y|ELP3_ENST00000380353.4_Silent_p.Y237Y|ELP3_ENST00000537665.1_Silent_p.Y210Y|ELP3_ENST00000524103.1_Silent_p.Y257Y	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	329					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCGGGCTTTATGAGCTTTGGA	0.488													17	28					0	0	0	0	C	27995295	T	C	27995295	2	2	476	1	0	0	0	0	0	0	0	1	5119	1471	51	5		5	ELP3	8	27995295	Silent	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	10560525	27995295	118368727	83	91591											
INTS9	55756	broad.mit.edu	37	chr8	28707753	28707753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccaagaaagcatttccatCcttcagggaccagccaggaa	13	7	9	12	0	1	1	1	0	0	1	4	3	4	3	5	2	2	1	5	2	3	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:28707753C>T	ENST00000416984.2	-	3	534	c.175G>A	c.(175-177)Gat>Aat	p.D59N	INTS9_ENST00000521777.1_Missense_Mutation_p.D35N|INTS9_ENST00000397363.4_5'UTR|INTS9_ENST00000521022.1_Missense_Mutation_p.D59N	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	59					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCATTTCCATCCTTCAGGGAC	0.398													37	96					0	0	0	0	T	28707753	C	T	28707753	3	4	476	1	0	0	0	0	1	0	0	0	7838	855	30	2	1861	2	INTS9	8	28707753	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	712458	28707753	117656269	84	91592											
DUSP26	78986	broad.mit.edu	37	chr8	33451109	33451109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgtctggaagtggatgctCatgtcaaaggctggcgagtc	8	9	15	9	2	3	0	2	0	1	0	4	3	3	2	1	4	1	2	1	4	2	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:33451109C>T	ENST00000256261.4	-	3	895	c.378G>A	c.(376-378)atG>atA	p.M126I	DUSP26_ENST00000523956.1_Missense_Mutation_p.M126I	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	126	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGTGGATGCTCATGTCAAAGG	0.647													23	49					0	0	0	0	T	33451109	C	T	33451109	3	4	476	1	0	0	0	0	1	0	0	0	4859	826	29	2	265	2	DUSP26	8	33451109	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	4743356	33451109	112912913	85	91593											
MMP16	4325	broad.mit.edu	37	chr8	89053960	89053960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcttggatatccaggtTctaccttgagtatctggttg	7	16	11	7	0	3	1	0	1	3	0	4	3	4	3	2	4	1	3	2	4	3	7			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:89053960T>C	ENST00000286614.6	-	10	1834	c.1553A>G	c.(1552-1554)gAa>gGa	p.E518G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	518	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATATCCAGGTTCTACCTTGAG	0.423													10	53					0	0	0	0	C	89053960	T	C	89053960	3	2	476	1	0	0	0	0	1	0	0	0	9724	1783	62	5	274	5	MMP16	8	89053960	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	55602851	89053960	57310062	86	91594											
CSMD3	114788	broad.mit.edu	37	chr8	113308070	113308070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcttacttacgcacacagGatgggagctgaccagaccaa	13	7	10	11	1	0	2	0	1	0	1	0	4	0	4	2	2	4	3	2	2	3	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:113308070G>A	ENST00000297405.5	-	54	8850	c.8606C>T	c.(8605-8607)tCc>tTc	p.S2869F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2700F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2829F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2799F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2869	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACGCACACAGGATGGGAGCTG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	33					0	0	0	0	A	113308070	G	A	113308070	3	1	476	1	0	0	0	0	1	0	0	0	3978	1174	41	2	2589	2	CSMD3	8	113308070	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	24254110	113308070	33055952	87	91595											
TG	7038	broad.mit.edu	37	chr8	134107289	134107289	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcctgctttctcttccaggGaggctccgcactctccccgg	4	10	10	17	2	2	0	0	0	2	0	6	1	4	1	5	3	2	3	5	3	0	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:134107289G>C	ENST00000220616.4	+	42	7281	c.7239_splice	c.e42-1	p.G2414_splice	SLA_ENST00000517648.1_Intron|TG_ENST00000542445.1_Splice_Site_p.G784_splice|TG_ENST00000519543.1_Splice_Site_p.G547_splice|TG_ENST00000377869.1_Splice_Site_p.G2357_splice|SLA_ENST00000524345.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2414					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCTTCCAGGGAGGCTCCGCA	0.592													30	131					0	0	0	0	C	134107289	G	C	134107289	5	2	476	1	0	0	0	0	0	0	1	0	15907	1188	41	2	7407	2	TG	8	134107289	Splice_Site	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	20799219	134107289	12256733	88	91596											
WISP1	8840	broad.mit.edu	37	chr8	134232846	134232846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggtcggtgtgggctgcgtCctggatggggtgcgctacaa	4	10	19	8	3	0	0	0	0	0	0	2	1	1	1	1	6	3	2	1	6	2	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:134232846C>T	ENST00000250160.6	+	3	478	c.372C>T	c.(370-372)gtC>gtT	p.V124V	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	124	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGGGCTGCGTCCTGGATGGGG	0.642													20	106					0	0	0	0	T	134232846	C	T	134232846	2	4	476	1	0	0	0	0	0	0	0	1	17468	842	30	2		2	WISP1	8	134232846	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	125557	134232846	12131176	89	91597											
CBWD1	55871	broad.mit.edu	37	chr9	163990	163990	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacttaccatcaagataaaTatcactccctaattcagcat	16	12	2	11	0	3	1	3	0	0	1	4	1	4	1	2	0	3	1	2	0	7	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:163990T>C	ENST00000377447.3	-	5	533	c.478A>G	c.(478-480)Att>Gtt	p.I160V	CBWD1_ENST00000314367.10_Missense_Mutation_p.I124V|CBWD1_ENST00000382447.4_Missense_Mutation_p.I160V|CBWD1_ENST00000431099.2_Missense_Mutation_p.I124V|CBWD1_ENST00000356521.4_Missense_Mutation_p.I160V|CBWD1_ENST00000377400.4_Missense_Mutation_p.I160V			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	160							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCAAGATAAATATCACTCCCT	0.313													42	106					0	0	0	0	C	163990	T	C	163990	3	2	476	1	0	0	0	0	1	0	0	0	2737	1406	49	5	753	5	CBWD1	9	163990	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08		163990	141049441	90	91598											
CDC37L1	55664	broad.mit.edu	37	chr9	4701900	4701900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttgaagcattcaaaaatGaacttgaagctttcaagtca	16	13	6	6	0	3	3	3	3	0	0	3	3	3	3	0	0	3	2	0	0	6	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:4701900G>C	ENST00000381854.3	+	6	986	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	CDC37L1_ENST00000381858.1_Missense_Mutation_p.E262Q	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	262	Self-association and interaction with Hsp90.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		ATTCAAAAATGAACTTGAAGC	0.333													8	25					0	0	0	0	C	4701900	G	C	4701900	3	2	476	1	0	0	0	0	1	0	0	0	3098	1291	45	2	806	2	CDC37L1	9	4701900	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	4537910	4701900	136511531	91	91599											
ERMP1	79956	broad.mit.edu	37	chr9	5787438	5787438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaattggcacctgcacttCtatccagaactgccatgcag	11	9	9	12	0	1	1	0	0	1	1	2	2	2	2	3	2	4	3	3	2	3	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:5787438C>G	ENST00000339450.5	-	14	2631	c.2542G>C	c.(2542-2544)Gaa>Caa	p.E848Q	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	848					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ACCTGCACTTCTATCCAGAAC	0.473													22	35					0	0	0	0	G	5787438	C	G	5787438	3	3	476	1	0	0	0	0	1	0	0	0	5274	922	32	2	180	2	ERMP1	9	5787438	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	1085538	5787438	135425993	92	91600											
KIAA2026	158358	broad.mit.edu	37	chr9	5922663	5922663	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccttctttatgctgaatCacaaaattcttaggcagaat	12	16	5	8	0	3	2	1	1	2	1	4	2	4	2	1	1	1	2	1	1	6	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:5922663C>G	ENST00000399933.3	-	8	3332	c.3333G>C	c.(3331-3333)gtG>gtC	p.V1111V	KIAA2026_ENST00000381461.2_Silent_p.V1081V	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1111										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TATGCTGAATCACAAAATTCT	0.378													20	52					0	0	0	0	G	5922663	C	G	5922663	2	3	476	1	0	0	0	0	0	0	0	1	8321	813	29	2		2	KIAA2026	9	5922663	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	135225	5922663	135290768	93	91601											
CDKN2A	1029	broad.mit.edu	37	chr9	21971156	21971156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgcagttgggctccgCgccgtggagcagcagcagct	5	6	17	13	5	0	0	0	0	0	0	2	1	1	1	2	3	4	7	2	3	0	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:21971156C>G	ENST00000579755.1	-	2	537	c.245G>C	c.(244-246)cGc>cCc	p.R82P	CDKN2A_ENST00000361570.3_Missense_Mutation_p.R123P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A68P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A17P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R82P|CDKN2A_ENST00000304494.5_Missense_Mutation_p.A68P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A17P			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.A68T(5)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TTGGGCTCCGCGCCGTGGAGC	0.706		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	12					0	0	0	0	G	21971156	C	G	21971156	3	3	476	1	0	0	0	0	1	0	0	0	3190	768	27	3	276	3	CDKN2A	9	21971156	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	16048493	21971156	119242275	94	91602											
C9orf131	138724	broad.mit.edu	37	chr9	35045669	35045669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccccaaagcttcgggtCcccaggatcagccagaggca	9	7	10	15	1	2	1	1	0	1	1	5	2	3	2	5	3	2	2	5	3	1	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:35045669C>A	ENST00000312292.5	+	2	3090	c.3043C>A	c.(3043-3045)Ccc>Acc	p.P1015T	C9orf131_ENST00000354479.5_Missense_Mutation_p.P942T|C9orf131_ENST00000421362.2_Missense_Mutation_p.P967T	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1015										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCTTCGGGTCCCCAGGATCA	0.577													26	61					4.72057e-08	4.88406e-08	1	0	A	35045669	C	A	35045669	3	1	476	1	0	0	0	0	1	0	0	0	2482	855	30	2	3065	2	C9orf131	9	35045669	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	13074513	35045669	106167762	95	91603											
TLN1	7094	broad.mit.edu	37	chr9	35715165	35715165	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctcctcactgTcagggtgggcagctgctccc	3	10	13	15	0	2	0	2	0	0	0	4	0	4	0	2	2	5	7	2	2	0	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:35715165T>G	ENST00000314888.9	-	21	2998	c.2645A>C	c.(2644-2646)gAc>gCc	p.D882A	TLN1_ENST00000540444.1_Missense_Mutation_p.D882A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	882					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCTCACTGTCAGGGTGGGC	0.597													14	36					0	0	0	0	G	35715165	T	G	35715165	3	3	476	1	0	0	0	0	1	0	0	0	16041	1667	58	5	5128	5	TLN1	9	35715165	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	669496	35715165	105498266	96	91604											
VPS13A	23230	broad.mit.edu	37	chr9	79895113	79895113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttatttggttacaaccctgGataacacaatggaagacctg	13	12	8	8	0	0	1	0	0	0	1	0	3	0	3	2	3	3	1	2	3	6	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:79895113G>C	ENST00000360280.3	+	27	3123	c.2863G>C	c.(2863-2865)Gat>Cat	p.D955H	VPS13A_ENST00000376634.4_Missense_Mutation_p.D955H|VPS13A_ENST00000357409.5_Missense_Mutation_p.D955H|VPS13A_ENST00000376636.3_Missense_Mutation_p.D955H|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	955					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TACAACCCTGGATAACACAAT	0.303													11	32					0	0	0	0	C	79895113	G	C	79895113	3	2	476	1	0	0	0	0	1	0	0	0	17285	1174	41	2	2969	2	VPS13A	9	79895113	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	44179948	79895113	61318318	97	91605											
SVEP1	79987	broad.mit.edu	37	chr9	113171109	113171109	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtcgagaggaacacacatCagaggggattcactgtgcca	13	6	12	10	1	2	2	2	0	0	2	3	5	2	4	1	3	2	0	1	3	1	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:113171109C>G	ENST00000401783.2	-	38	7107	c.6771G>C	c.(6769-6771)ctG>ctC	p.L2257L	SVEP1_ENST00000374469.1_Silent_p.L2234L|SVEP1_ENST00000297826.5_Silent_p.L183L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2257	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACACACATCAGAGGGGATT	0.483													49	159					0	0	0	0	G	113171109	C	G	113171109	2	3	476	1	0	0	0	0	0	0	0	1	15510	813	29	2		2	SVEP1	9	113171109	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	33275996	113171109	28042322	98	91606											
PAPPA	5069	broad.mit.edu	37	chr9	118949908	118949908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacaatgtgaagcatgcctgGtcccccatgaaggatggcag	11	7	13	10	0	0	2	0	2	0	0	1	4	1	3	3	3	2	2	3	3	3	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:118949908G>T	ENST00000328252.3	+	2	1260	c.891G>T	c.(889-891)tgG>tgT	p.W297C		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	297	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCATGCCTGGTCCCCCATGA	0.577													23	73					3.10358e-05	3.14303e-05	1	0	T	118949908	G	T	118949908	3	4	476	1	0	0	0	0	1	0	0	0	11503	1270	44	4	897	4	PAPPA	9	118949908	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	5778799	118949908	22263523	99	91607											
FAM129B	64855	broad.mit.edu	37	chr9	130272455	130272455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcaatgccgccctcgttGatgacgttcaggttcatgtc	6	14	10	11	3	3	2	3	2	0	0	5	2	3	2	2	1	1	3	2	1	1	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:130272455G>A	ENST00000373312.3	-	9	1344	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	FAM129B_ENST00000373314.3_Silent_p.I364I|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	377							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGCCCTCGTTGATGACGTTCA	0.632													61	90					0	0	0	0	A	130272455	G	A	130272455	2	1	476	1	0	0	0	0	0	0	0	1	5478	1280	45	2		2	FAM129B	9	130272455	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	11322547	130272455	10940976	100	91608											
SETX	23064	broad.mit.edu	37	chr9	135187212	135187212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaactgatagaaattctctCtatttggagagttgagccat	12	13	9	7	0	2	4	0	2	2	2	3	5	2	4	1	1	2	2	1	1	4	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:135187212C>G	ENST00000372169.2	-	11	5488	c.5306G>C	c.(5305-5307)aGa>aCa	p.R1769T	SETX_ENST00000224140.5_Missense_Mutation_p.R1769T|SETX_ENST00000393220.1_Missense_Mutation_p.R1769T			Q7Z333	SETX_HUMAN	senataxin	1769					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAAATTCTCTCTATTTGGAGA	0.343													14	18					0	0	0	0	G	135187212	C	G	135187212	3	3	476	1	0	0	0	0	1	0	0	0	14228	913	32	2	2791	2	SETX	9	135187212	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	4914757	135187212	6026219	101	91609											
NOTCH1	4851	broad.mit.edu	37	chr9	139413262	139413262	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcactcgtccacatcctCggtacagtactgacctgcag	8	9	9	15	2	0	1	0	1	0	0	4	1	2	1	3	2	3	4	3	2	2	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:139413262C>A	ENST00000277541.6	-	6	955	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	294					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCACATCCTCGGTACAGTAC	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			36	21					3.09479e-21	3.33178e-21	1	0	A	139413262	C	A	139413262	4	1	476	1	0	0	0	0	0	1	0	0	10617	893	31	3	6903	3	NOTCH1	9	139413262	Nonsense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	4226050	139413262	1800169	102	91610											
C9orf172	389813	broad.mit.edu	37	chr9	139740915	139740915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaacgcctgcctctacttCaagtcctgccacagctgcta	8	11	6	16	1	3	0	2	0	1	0	4	0	4	0	4	0	6	2	4	0	4	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:139740915C>G	ENST00000436881.1	+	1	2049	c.2049C>G	c.(2047-2049)ttC>ttG	p.F683L		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	683										endometrium(2)|large_intestine(1)|lung(6)	9						GCCTCTACTTCAAGTCCTGCC	0.677													32	56					0	0	0	0	G	139740915	C	G	139740915	3	3	476	1	0	0	0	0	1	0	0	0	2496	825	29	2	2051	2	C9orf172	9	139740915	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	327653	139740915	1472516	103	91611											
PRKCQ	5588	broad.mit.edu	37	chr10	6525470	6525470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttttagtttaatctgcaGagatggtctttctttgttca	9	20	7	5	0	4	1	1	0	3	1	4	2	4	1	0	1	1	3	0	1	3	8			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:6525470G>C	ENST00000263125.5	-	11	1210	c.1111C>G	c.(1111-1113)Ctg>Gtg	p.L371V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.L371V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.L246V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	371					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTAATCTGCAGAGATGGTCTT	0.433													28	77					0	0	0	0	C	6525470	G	C	6525470	3	2	476	1	0	0	0	0	1	0	0	0	12595	933	33	2	1041	2	PRKCQ	10	6525470	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		6525470	129009277	104	91612											
MCM10	55388	broad.mit.edu	37	chr10	13251295	13251295	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaacatgctaaatttctGaacagccttaaataacccga	17	9	6	9	1	1	2	0	1	1	1	1	4	1	2	2	0	5	1	2	0	8	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:13251295G>C	ENST00000378714.3	+	20	2738	c.2610G>C	c.(2608-2610)ctG>ctC	p.L870L	MCM10_ENST00000484800.2_Silent_p.L871L|MCM10_ENST00000378694.1_3'UTR	NM_018518.4|NM_182751.2	NP_060988.3|NP_877428.1	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	871					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTAAATTTCTGAACAGCCTTA	0.398													7	37					0	0	0	0	C	13251295	G	C	13251295	2	2	476	1	0	0	0	0	0	0	0	1	9454	1277	45	2		2	MCM10	10	13251295	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	6725825	13251295	122283452	105	91613											
CCNY	219771	broad.mit.edu	37	chr10	35814905	35814905	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacagtgtcgctcttgcaAtatattatcacatcaaaaac	14	14	4	9	1	3	0	2	0	1	0	4	0	3	0	0	0	3	2	0	0	7	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:35814905A>T	ENST00000374704.4	+	5	559	c.379A>T	c.(379-381)Ata>Tta	p.I127L	CCNY_ENST00000265375.9_Missense_Mutation_p.I73L|CCNY_ENST00000339497.5_Missense_Mutation_p.I102L|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.I73L	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	127					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CGCTCTTGCAATATATTATCA	0.348													19	30					0	0	0	0	T	35814905	A	T	35814905	3	4	476	1	0	0	0	0	1	0	0	0	2965	101	4	5	397	5	CCNY	10	35814905	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	22563610	35814905	99719842	106	91614											
ZNF33B	7582	broad.mit.edu	37	chr10	43127881	43127881	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgacccctggaacttctGatctacctgaaatgttcaga	11	12	7	11	0	3	4	1	3	2	1	3	5	3	5	3	1	3	1	3	1	4	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:43127881G>A	ENST00000359467.3	-	3	130	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	6						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGGAACTTCTGATCTACCTGA	0.418													5	31					0	0	0	0	A	43127881	G	A	43127881	4	1	476	1	0	0	0	0	0	1	0	0	17950	1299	45	2	2332	2	ZNF33B	10	43127881	Nonsense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	7312976	43127881	92406866	107	91615											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407449	75407449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccaggttctgtaccagcGatagcagctcggggttgggc	7	9	14	11	2	1	0	0	0	1	0	3	1	2	0	2	4	4	5	2	4	2	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:75407449G>A	ENST00000394810.2	-	4	2110	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.S430L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	654	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTGTACCAGCGATAGCAGCTC	0.627													37	145					0	0	0	0	A	75407449	G	A	75407449	3	1	476	1	0	0	0	0	1	0	0	0	15549	1059	37	1	976	1	SYNPO2L	10	75407449	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	32279568	75407449	60127298	108	91616											
COMTD1	118881	broad.mit.edu	37	chr10	76995480	76995480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcactgctctcgccggcctCgccatggggggcaccgcctc	3	6	14	18	4	1	0	0	0	1	0	4	0	1	0	5	5	1	3	5	5	0	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:76995480C>T	ENST00000372538.3	-	2	198	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	39						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					TCGCCGGCCTCGCCATGGGGG	0.721													4	6					0	0	0	0	T	76995480	C	T	76995480	3	4	476	1	0	0	0	0	1	0	0	0	3756	884	31	1	696	1	COMTD1	10	76995480	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	1588031	76995480	58539267	109	91617											
MYOF	26509	broad.mit.edu	37	chr10	95169470	95169470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcattgtccaacctgtcttCatcaccttcatcttcttccc	6	16	3	16	0	6	0	3	0	3	0	8	0	8	0	4	0	2	1	4	0	1	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:95169470C>T	ENST00000371501.4	-	6	582	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	MYOF_ENST00000371489.1_Missense_Mutation_p.E154K|MYOF_ENST00000371502.4_Missense_Mutation_p.E154K|MYOF_ENST00000359263.4_Missense_Mutation_p.E154K|MYOF_ENST00000358334.5_Missense_Mutation_p.E154K			Q9NZM1	MYOF_HUMAN	myoferlin	154					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACCTGTCTTCATCACCTTCA	0.517													80	237					0	0	0	0	T	95169470	C	T	95169470	3	4	476	1	0	0	0	0	1	0	0	0	10159	835	29	2	5921	2	MYOF	10	95169470	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	18173990	95169470	40365277	110	91618											
OR51G2	81282	broad.mit.edu	37	chr11	4936814	4936814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagatccagatgtgcatgCgctccagcccagggatgcca	9	7	13	12	1	0	2	0	0	0	2	2	4	2	3	4	2	4	2	4	2	0	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:4936814C>T	ENST00000322013.3	-	1	108	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGTGCATGCGCTCCAGCCC	0.527													18	56					0	0	0	0	T	4936814	C	T	4936814	3	4	476	1	0	0	0	0	1	0	0	0	11170	768	27	1	868	1	OR51G2	11	4936814	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08		4936814	130069702	111	91619											
NLRP10	338322	broad.mit.edu	37	chr11	7982199	7982199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taggagctgaagtacctcgcCctctcctcctcagagaagcc	9	8	9	15	1	2	2	1	1	1	1	5	4	3	3	5	1	3	2	5	1	4	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:7982199C>T	ENST00000328600.2	-	2	1121	c.960G>A	c.(958-960)agG>agA	p.R320R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	320	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTACCTCGCCCTCTCCTCCT	0.517													26	62					0	0	0	0	T	7982199	C	T	7982199	2	4	476	1	0	0	0	0	0	0	0	1	10542	622	22	4		4	NLRP10	11	7982199	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	3045385	7982199	127024317	112	91620											
EIF4G2	1982	broad.mit.edu	37	chr11	10823638	10823638	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatctctccaaactgcgaTtgtgtgggaggcatgatgtg	8	11	12	10	1	1	1	0	1	1	0	3	3	2	2	2	2	2	1	2	2	1	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:10823638T>C	ENST00000526148.1	-	13	1767	c.1257A>G	c.(1255-1257)caA>caG	p.Q419Q	EIF4G2_ENST00000525681.1_Silent_p.Q419Q|EIF4G2_ENST00000339995.5_Silent_p.Q419Q|EIF4G2_ENST00000396525.2_Silent_p.Q419Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	419					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAAACTGCGATTGTGTGGGAG	0.428													19	61					0	0	0	0	C	10823638	T	C	10823638	2	2	476	1	0	0	0	0	0	0	0	1	5075	1490	52	5		5	EIF4G2	11	10823638	Silent	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	2841439	10823638	124182878	113	91621											
AHNAK	79026	broad.mit.edu	37	chr11	62294399	62294399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcttggacatcgggggcaTttacatcaactttggggccc	8	10	13	10	1	1	0	1	0	0	0	2	2	1	1	1	5	3	2	1	5	2	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:62294399T>C	ENST00000378024.4	-	5	7764	c.7490A>G	c.(7489-7491)aAt>aGt	p.N2497S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2497					nervous system development	nucleus	protein binding			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)				ATCGGGGGCATTTACATCAAC	0.507													53	122					0	0	0	0	C	62294399	T	C	62294399	3	2	476	1	0	0	0	0	1	0	0	0	414	1493	52	5	10302	5	AHNAK	11	62294399	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	51470761	62294399	72712117	114	91622											
B3GAT3	26229	broad.mit.edu	37	chr11	62384631	62384631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgaacccagccaggcTcgccctcccgaagccgctgg	7	4	14	16	3	0	1	0	1	0	0	2	3	1	2	5	4	3	2	5	4	2	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:62384631T>C	ENST00000531383.1	-	3	652	c.446A>G	c.(445-447)gAg>gGg	p.E149G	B3GAT3_ENST00000265471.5_Missense_Mutation_p.E149G|B3GAT3_ENST00000534026.1_Missense_Mutation_p.E149G			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	149					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCAGCCAGGCTCGCCCTCCCG	0.692													18	32					0	0	0	0	C	62384631	T	C	62384631	3	2	476	1	0	0	0	0	1	0	0	0	1259	1551	54	5	573	5	B3GAT3	11	62384631	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	90232	62384631	72621885	115	91623											
ZBTB3	79842	broad.mit.edu	37	chr11	62520755	62520755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctccttcttggtactgtCtgcctctgccagggcccggg	2	12	11	16	1	3	0	0	0	3	0	5	0	5	0	5	3	3	1	5	3	1	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:62520755C>T	ENST00000394807.3	-	2	657	c.532G>A	c.(532-534)Gac>Aac	p.D178N		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TTGGTACTGTCTGCCTCTGCC	0.552													33	103					0	0	0	0	T	62520755	C	T	62520755	3	4	476	1	0	0	0	0	1	0	0	0	17629	913	32	2	1196	2	ZBTB3	11	62520755	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	136124	62520755	72485761	116	91624											
ZBTB3	79842	broad.mit.edu	37	chr11	62521034	62521034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagcccgatgggccaagaActgggtactacccaccatca	12	5	9	15	1	1	1	1	0	0	1	1	2	1	1	4	2	4	1	4	2	4	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:62521034A>G	ENST00000394807.3	-	2	378	c.253T>C	c.(253-255)Ttc>Ctc	p.F85L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	85	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGGGCCAAGAACTGGGTACTA	0.572													11	24					0	0	0	0	G	62521034	A	G	62521034	3	3	476	1	0	0	0	0	1	0	0	0	17629	43	2	5	1475	5	ZBTB3	11	62521034	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	279	62521034	72485482	117	91625											
ARHGAP20	57569	broad.mit.edu	37	chr11	110456955	110456955	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attacctttgaacagtatttAttttctcttcatcatttcct	9	21	2	9	0	3	1	2	1	1	0	5	1	4	1	2	0	2	1	2	0	4	9			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:110456955A>C	ENST00000260283.4	-	13	1684	c.1400T>G	c.(1399-1401)aTa>aGa	p.I467R	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I441R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I444R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I431R|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I10R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I441R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I431R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	467	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AACAGTATTTATTTTCTCTTC	0.264													18	26					0	0	0	0	C	110456955	A	C	110456955	3	2	476	1	0	0	0	0	1	0	0	0	872	449	16	5	2191	5	ARHGAP20	11	110456955	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	47935921	110456955	24549561	118	91626											
BSX	390259	broad.mit.edu	37	chr11	122848402	122848402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccccctcgtctccaatGtccacctcgtcctctggctc	4	11	6	20	2	2	0	0	0	2	0	9	0	5	0	6	1	1	2	6	1	1	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:122848402G>A	ENST00000343035.2	-	3	705	c.657C>T	c.(655-657)gaC>gaT	p.D219D		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	219										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGTCTCCAATGTCCACCTCGT	0.736													18	40					0	0	0	0	A	122848402	G	A	122848402	2	1	476	1	0	0	0	0	0	0	0	1	1543	1368	48	4		4	BSX	11	122848402	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	12391447	122848402	12158114	119	91627											
DCPS	28960	broad.mit.edu	37	chr11	126215347	126215347	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcacttcaccgccctgggcTtcgaggcccccggctcaggc	4	7	12	18	3	2	0	2	0	0	0	3	1	2	0	4	4	1	3	4	4	0	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:126215347T>A	ENST00000263579.4	+	6	1182	c.853T>A	c.(853-855)Ttc>Atc	p.F285I	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	285					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CGCCCTGGGCTTCGAGGCCCC	0.632													26	76					0	0	0	0	A	126215347	T	A	126215347	3	1	476	1	0	0	0	0	1	0	0	0	4333	1609	56	5	875	5	DCPS	11	126215347	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	3366945	126215347	8791169	120	91628											
VWF	7450	broad.mit.edu	37	chr12	6103627	6103627	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcttggggctgagctgCagttggaactcattgttttg	8	14	13	6	0	2	1	1	1	1	0	2	2	2	2	0	3	3	5	0	3	2	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:6103627C>A	ENST00000261405.5	-	36	6464	c.6210G>T	c.(6208-6210)ctG>ctT	p.L2070L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2070	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCTGAGCTGCAGTTGGAACT	0.428													38	85					2.24893e-16	2.38887e-16	1	0	A	6103627	C	A	6103627	2	1	476	1	0	0	0	0	0	0	0	1	17342	697	25	4		4	VWF	12	6103627	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08		6103627	127748268	121	91629											
CACNB3	784	broad.mit.edu	37	chr12	49220822	49220822	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgagcacctggctgagtaCctggaggtttactggcgggc	6	10	16	9	1	0	2	0	2	0	0	0	3	0	3	2	5	3	4	2	5	2	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:49220822C>T	ENST00000301050.2	+	12	1255	c.1056C>T	c.(1054-1056)taC>taT	p.Y352Y	CACNB3_ENST00000547230.1_Silent_p.Y311Y|CACNB3_ENST00000540990.1_Silent_p.Y339Y|CACNB3_ENST00000547392.1_Silent_p.Y325Y|CACNB3_ENST00000536187.2_Silent_p.Y351Y	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	352					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	TGGCTGAGTACCTGGAGGTTT	0.607													51	135					0	0	0	0	T	49220822	C	T	49220822	2	4	476	1	0	0	0	0	0	0	0	1	2579	518	18	4		4	CACNB3	12	49220822	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	43117195	49220822	84631073	122	91630											
KRT86	3892	broad.mit.edu	37	chr12	52695816	52695816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcatctcctgctaccGcggcctcaccgggggcttcg	3	8	13	17	5	2	0	1	0	1	0	4	0	2	0	5	4	2	3	5	4	1	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:52695816G>A	ENST00000293525.5	+	1	168	c.116G>A	c.(115-117)cGc>cAc	p.R39H	KRT86_ENST00000423955.2_Missense_Mutation_p.R39H|KRT86_ENST00000544024.1_Missense_Mutation_p.R39H	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	39	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGCTACCGCGGCCTCACC	0.746													14	38					0	0	0	0	A	52695816	G	A	52695816	3	1	476	1	0	0	0	0	1	0	0	0	8552	1087	38	1	118	1	KRT86	12	52695816	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	3474994	52695816	81156079	123	91631											
LRRC10	376132	broad.mit.edu	37	chr12	70004271	70004271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttctggagcaggctcagCtcactggggaggtcgcagag	8	7	17	9	1	3	1	2	0	1	1	4	3	3	3	0	6	2	5	0	6	0	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:70004271C>G	ENST00000361484.3	-	1	671	c.348G>C	c.(346-348)gaG>gaC	p.E116D		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	116						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGGCTCAGCTCACTGGGGA	0.567													18	55					0	0	0	0	G	70004271	C	G	70004271	3	3	476	1	0	0	0	0	1	0	0	0	9031	796	28	4	489	4	LRRC10	12	70004271	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	17308455	70004271	63847624	124	91632											
TPH2	121278	broad.mit.edu	37	chr12	72425365	72425365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccctacacacagagtattGaaattctgaaagacaccaga	17	8	6	10	0	1	5	0	2	1	3	2	5	2	5	2	0	1	1	2	0	4	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:72425365G>A	ENST00000333850.3	+	11	1504	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	455					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ACAGAGTATTGAAATTCTGAA	0.393													19	49					0	0	0	0	A	72425365	G	A	72425365	3	1	476	1	0	0	0	0	1	0	0	0	16497	1291	45	2	1405	2	TPH2	12	72425365	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	2421094	72425365	61426530	125	91633											
RIC8B	55188	broad.mit.edu	37	chr12	107245283	107245283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagttggctcaactgtgaGaaataagctggtgcgcctca	11	10	12	8	1	2	2	2	2	0	1	2	3	2	2	1	2	3	3	1	2	4	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:107245283G>C	ENST00000392837.4	+	7	1368	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.R366T|RIC8B_ENST00000392839.2_Missense_Mutation_p.R406T			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	406					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TCAACTGTGAGAAATAAGCTG	0.443													19	31					0	0	0	0	C	107245283	G	C	107245283	3	2	476	1	0	0	0	0	1	0	0	0	13439	942	33	2	1243	2	RIC8B	12	107245283	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	34819918	107245283	26606612	126	91634											
UBE3B	89910	broad.mit.edu	37	chr12	109937499	109937499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaggagacagatgggttCgtgagtttgctcacccagac	10	8	15	8	1	1	4	1	1	0	3	2	7	1	5	1	3	1	3	1	3	0	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:109937499C>T	ENST00000342494.3	+	12	1597	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	UBE3B_ENST00000280774.5_Silent_p.F334F|UBE3B_ENST00000434735.2_Silent_p.F334F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	334					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAGATGGGTTCGTGAGTTTGC	0.557													6	16					0	0	0	0	T	109937499	C	T	109937499	2	4	476	1	0	0	0	0	0	0	0	1	16976	883	31	1		1	UBE3B	12	109937499	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2692216	109937499	23914396	127	91635											
ALDH2	217	broad.mit.edu	37	chr12	112227669	112227669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtaccacgggaaaaccatCcccattgacggagacttctt	13	8	8	12	2	1	2	0	1	1	1	2	4	2	3	4	2	2	1	4	2	4	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:112227669C>A	ENST00000546840.2	+	6	473	c.473C>A	c.(472-474)tCc>tAc	p.S158Y	ALDH2_ENST00000261733.2_Silent_p.I161I|ALDH2_ENST00000416293.3_Silent_p.I114I																							GGAAAACCATCCCCATTGACG	0.522													10	32					4.68919e-08	4.87268e-08	1	0	A	112227669	C	A	112227669	3	1	476	1	0	0	0	0	1	0	0	0	496	845	30	2	501	2	ALDH2	12	112227669	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2290170	112227669	21624226	128	91636											
NAA25	80018	broad.mit.edu	37	chr12	112471054	112471054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccggtgagagagaagtgtCttctaaaataagttcttcaa	14	12	9	6	1	4	2	1	1	3	2	4	4	4	2	1	1	1	1	1	1	6	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:112471054C>G	ENST00000261745.4	-	23	3027	c.2779G>C	c.(2779-2781)Gac>Cac	p.D927H		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	927						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGAGAAGTGTCTTCTAAAATA	0.378													20	40					0	0	0	0	G	112471054	C	G	112471054	3	3	476	1	0	0	0	0	1	0	0	0	10191	913	32	2	147	2	NAA25	12	112471054	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	243385	112471054	21380841	129	91637											
RBM19	9904	broad.mit.edu	37	chr12	114352855	114352855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaggtggtctgctttctgGgaacttgtttcttccgagcc	4	15	13	9	1	3	0	0	0	3	0	4	3	4	2	2	4	3	2	2	4	1	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:114352855G>A	ENST00000545145.2	-	21	2555	c.2477C>T	c.(2476-2478)cCc>cTc	p.P826L	RBM19_ENST00000392561.3_Missense_Mutation_p.P826L|RBM19_ENST00000261741.5_Missense_Mutation_p.P826L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	826					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTGCTTTCTGGGAACTTGTTT	0.572													30	93					0	0	0	0	A	114352855	G	A	114352855	3	1	476	1	0	0	0	0	1	0	0	0	13203	1232	43	4	421	4	RBM19	12	114352855	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	1881801	114352855	19499040	130	91638											
DNAH10	196385	broad.mit.edu	37	chr12	124335581	124335581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcccgacctgcagcagatCtgtgagatcatgctcttctc	7	11	10	13	1	4	2	1	1	3	2	5	4	4	2	2	0	4	3	2	0	0	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:124335581C>T	ENST00000409039.3	+	34	5920	c.5895C>T	c.(5893-5895)atC>atT	p.I1965I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1965	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCAGCAGATCTGTGAGATCA	0.647													8	38					0	0	0	0	T	124335581	C	T	124335581	2	4	476	1	0	0	0	0	0	0	0	1	4635	903	32	2		2	DNAH10	12	124335581	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	9982726	124335581	9516314	131	91639											
PAN3	255967	broad.mit.edu	37	chr13	28840936	28840936	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggatacagaaatcaagtaAttttggatatattacatctt	15	14	6	6	1	2	1	1	0	1	1	2	3	2	3	1	2	2	1	1	2	7	8			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr13:28840936A>T	ENST00000399613.1	+	9	959	c.896A>T	c.(895-897)aAt>aTt	p.N299I	PAN3_ENST00000282391.5_Missense_Mutation_p.N187I|PAN3_ENST00000380958.3_Missense_Mutation_p.N499I			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	499	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAATCAAGTAATTTTGGATAT	0.403													19	38					0	0	0	0	T	28840936	A	T	28840936	3	4	476	1	0	0	0	0	1	0	0	0	11486	101	4	5	1534	5	PAN3	13	28840936	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08		28840936	86328942	132	91640											
DCLK1	9201	broad.mit.edu	37	chr13	36686199	36686199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgaaatccttattctctCgcacctctgaagggcttcct	9	13	7	12	1	2	2	0	2	2	0	6	3	4	2	3	1	0	2	3	1	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr13:36686199C>T	ENST00000255448.4	-	3	741	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	DCLK1_ENST00000360631.3_Missense_Mutation_p.R177Q|DCLK1_ENST00000379892.4_Missense_Mutation_p.R177Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	177					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTATTCTCTCGCACCTCTGA	0.532													29	69					0	0	0	0	T	36686199	C	T	36686199	3	4	476	1	0	0	0	0	1	0	0	0	4323	884	31	1	1723	1	DCLK1	13	36686199	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	7845263	36686199	78483679	133	91641											
SLITRK1	114798	broad.mit.edu	37	chr13	84455565	84455565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattgcaggaacagatcttCtctttgcaaacgtcccctgt	9	13	7	12	1	3	1	1	0	2	1	5	2	4	2	2	1	4	2	2	1	2	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr13:84455565C>G	ENST00000377084.2	-	1	963	c.78G>C	c.(76-78)gaG>gaC	p.E26D		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	26	LRRNT.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACAGATCTTCTCTTTGCAAA	0.478													31	67					0	0	0	0	G	84455565	C	G	84455565	3	3	476	1	0	0	0	0	1	0	0	0	14830	912	32	2	2016	2	SLITRK1	13	84455565	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	47769366	84455565	30714313	134	91642											
CDH24	64403	broad.mit.edu	37	chr14	23523379	23523379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgaggagcccgtctcgacCctgcaagtctgtgctgatgc	7	9	13	12	2	2	2	0	2	2	0	3	4	2	3	2	1	4	2	2	1	1	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:23523379C>T	ENST00000397359.3	-	6	1202	c.943G>A	c.(943-945)Ggt>Agt	p.G315S	CDH24_ENST00000267383.5_Missense_Mutation_p.G315S|CDH24_ENST00000487137.2_Missense_Mutation_p.G315S|CDH24_ENST00000554034.1_Missense_Mutation_p.G315S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	315	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCGTCTCGACCCTGCAAGTCT	0.597													42	93					0	0	0	0	T	23523379	C	T	23523379	3	4	476	1	0	0	0	0	1	0	0	0	3138	623	22	4	1548	4	CDH24	14	23523379	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08		23523379	83826161	135	91643											
HECTD1	25831	broad.mit.edu	37	chr14	31581693	31581693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtattagaaaaggacatttGctggttaattgttcacacca	13	13	9	6	0	1	1	1	0	0	1	1	2	1	2	1	3	1	4	1	3	5	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:31581693G>T	ENST00000399332.1	-	35	6695	c.6207C>A	c.(6205-6207)agC>agA	p.S2069R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S2069R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2069	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAGGACATTTGCTGGTTAATT	0.388													14	23					6.72482e-11	7.04927e-11	1	0	T	31581693	G	T	31581693	3	4	476	1	0	0	0	0	1	0	0	0	7089	1310	46	4	1661	4	HECTD1	14	31581693	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	8058314	31581693	75767847	136	91644											
NPAS3	64067	broad.mit.edu	37	chr14	33684434	33684434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagatgctgctcgctccCgccggggaaaagaaaacttt	10	7	11	13	4	0	2	0	0	0	2	2	4	1	3	3	2	3	3	3	2	4	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:33684434C>T	ENST00000346562.2	+	2	171	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	NPAS3_ENST00000356141.4_Missense_Mutation_p.R63C|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000341321.4_Missense_Mutation_p.R63C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R70C|NPAS3_ENST00000357798.5_Missense_Mutation_p.R33C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R33C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGCTCGCTCCCGCCGGGGAAA	0.458													12	41					0	0	0	0	T	33684434	C	T	33684434	3	4	476	1	0	0	0	0	1	0	0	0	10634	652	23	1	197	1	NPAS3	14	33684434	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2102741	33684434	73665106	137	91645											
SPTB	6710	broad.mit.edu	37	chr14	65271665	65271665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggactttaccagcatctCtccagagagcacctccagca	12	7	8	14	0	1	1	0	0	1	1	4	3	3	2	4	1	4	3	4	1	2	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:65271665C>G	ENST00000389722.3	-	2	345	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	SPTB_ENST00000389720.3_Missense_Mutation_p.E98Q|SPTB_ENST00000389721.5_Missense_Mutation_p.E98Q|SPTB_ENST00000556626.1_Missense_Mutation_p.E98Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E98Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	98	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCAGCATCTCTCCAGAGAGC	0.607													48	92					0	0	0	0	G	65271665	C	G	65271665	3	3	476	1	0	0	0	0	1	0	0	0	15208	922	32	2	6899	2	SPTB	14	65271665	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	31587231	65271665	42077875	138	91646											
CYFIP1	23191	broad.mit.edu	37	chr15	22926026	22926026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgcatttgttactggcatCgcaagatacattgaacaagc	14	11	8	8	1	0	2	0	1	0	1	1	2	0	2	0	1	5	4	0	1	6	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:22926026C>T	ENST00000313077.7	+	3	293	c.168C>T	c.(166-168)atC>atT	p.I56I	CYFIP1_ENST00000560848.1_Silent_p.I56I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	56					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTACTGGCATCGCAAGATACA	0.453													19	48					0	0	0	0	T	22926026	C	T	22926026	2	4	476	1	0	0	0	0	0	0	0	1	4169	874	31	1		1	CYFIP1	15	22926026	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08		22926026	79605366	139	91647											
CASC5	57082	broad.mit.edu	37	chr15	40916382	40916382	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattattcctgtttaccaaAtgttatttcctgtactgata	11	19	4	7	0	0	1	0	1	0	0	2	1	2	1	3	0	2	3	3	0	7	9			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:40916382A>T	ENST00000346991.5	+	11	4388	c.3998A>T	c.(3997-3999)aAt>aTt	p.N1333I	CASC5_ENST00000399668.2_Missense_Mutation_p.N1307I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1333					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGTTTACCAAATGTTATTTCC	0.363													22	60					0	0	0	0	T	40916382	A	T	40916382	3	4	476	1	0	0	0	0	1	0	0	0	2688	101	4	5	4036	5	CASC5	15	40916382	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	17990356	40916382	61615010	140	91648											
B2M	567	broad.mit.edu	37	chr15	45007745	45007745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttactgaagaatggagaGagaattgaaaaagtggagca	18	7	13	3	0	0	5	0	2	0	3	0	9	0	6	0	2	2	1	0	2	6	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:45007745G>C	ENST00000558401.1	+	2	262	c.192G>C	c.(190-192)gaG>gaC	p.E64D	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.E64D|B2M_ENST00000544417.1_Missense_Mutation_p.E64D	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	64	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.K61_L74del(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		AGAATGGAGAGAGAATTGAAA	0.413													20	57					0	0	0	0	C	45007745	G	C	45007745	3	2	476	1	0	0	0	0	1	0	0	0	1248	933	33	2	198	2	B2M	15	45007745	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	4091363	45007745	57523647	141	91649											
FAM96A	84191	broad.mit.edu	37	chr15	64380932	64380932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtactgttggcgtgaacctGataataaccagatattcttc	11	13	9	8	1	1	3	0	2	1	1	2	3	1	3	2	2	3	2	2	2	5	7			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:64380932G>A	ENST00000557835.1	-	2	269	c.243C>T	c.(241-243)atC>atT	p.I81I	FAM96A_ENST00000559950.1_Silent_p.I81I|FAM96A_ENST00000300030.3_Silent_p.I81I|FAM96A_ENST00000380290.3_Silent_p.I81I			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	81					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GCGTGAACCTGATAATAACCA	0.373													4	18					0	0	0	0	A	64380932	G	A	64380932	2	1	476	1	0	0	0	0	0	0	0	1	5699	1280	45	2		2	FAM96A	15	64380932	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	19373187	64380932	38150460	142	91650											
AGBL1	123624	broad.mit.edu	37	chr15	86813226	86813226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttctatttcaaagtgagcGgtatgcaggcggccatccct	8	11	12	10	2	2	1	1	1	1	0	3	1	3	1	2	4	2	3	2	4	3	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:86813226G>A	ENST00000441037.2	+	13	1872	c.1777G>A	c.(1777-1779)Ggt>Agt	p.G593S	AGBL1_ENST00000421325.2_Missense_Mutation_p.G593S|AGBL1_ENST00000389298.3_Missense_Mutation_p.G324S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	593					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAAGTGAGCGGTATGCAGGC	0.498													6	14					0	0	0	0	A	86813226	G	A	86813226	3	1	476	1	0	0	0	0	1	0	0	0	375	1116	39	1	1823	1	AGBL1	15	86813226	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	22432294	86813226	15718166	143	91651											
HN1L	90861	broad.mit.edu	37	chr16	1735475	1735475	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaggagaatcgagcaatcTttttggaagtccagaagaag	15	8	13	5	1	1	3	0	0	1	3	3	7	2	5	1	3	1	1	1	3	5	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr16:1735475T>G	ENST00000248098.3	+	2	137	c.80T>G	c.(79-81)cTt>cGt	p.L27R	HN1L_ENST00000562684.1_Missense_Mutation_p.L55R|HN1L_ENST00000569765.1_Missense_Mutation_p.L55R|HN1L_ENST00000561516.1_Missense_Mutation_p.L27R|HN1L_ENST00000382711.5_Missense_Mutation_p.L11R|HN1L_ENST00000569256.1_Intron|HN1L_ENST00000382710.4_Missense_Mutation_p.L15R|LA16c-431H6.6_ENST00000454337.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	27						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TCGAGCAATCTTTTTGGAAGT	0.473													33	41					0	0	0	0	G	1735475	T	G	1735475	3	3	476	1	0	0	0	0	1	0	0	0	7300	1609	56	5	86	5	HN1L	16	1735475	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08		1735475	88619278	144	91652											
GDPD3	79153	broad.mit.edu	37	chr16	30123725	30123725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacgaaccatgcgccggtCtgacccgtgagcaaagtggc	10	5	13	13	4	1	3	0	2	1	1	1	4	1	3	3	2	3	1	3	2	2	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr16:30123725C>G	ENST00000406256.3	-	5	762	c.385G>C	c.(385-387)Gac>Cac	p.D129H		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	129	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						ATGCGCCGGTCTGACCCGTGA	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	62					0	0	0	0	G	30123725	C	G	30123725	3	3	476	1	0	0	0	0	1	0	0	0	6376	913	32	2	595	2	GDPD3	16	30123725	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	28388250	30123725	60231028	145	91653											
NFAT5	10725	broad.mit.edu	37	chr16	69726976	69726985	+	Frame_Shift_Del	DEL	CTCATTCACA	CTCATTCACA	-																															aaattttttgcagcagtcttCtcattcacaggcccaacttt																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr16:69726976_69726985delCTCATTCACA	ENST00000349945.1	+	14	4518_4527	c.2966_2975delCTCATTCACA	c.(2965-2976)tgfs	p.SHSQ989fs	NFAT5_ENST00000432919.1_Frame_Shift_Del_p.SHSQ1083fs|NFAT5_ENST00000354436.2_Frame_Shift_Del_p.SHSQ1065fs|NFAT5_ENST00000566899.1_Frame_Shift_Del_p.SHSQ989fs|NFAT5_ENST00000567239.1_Frame_Shift_Del_p.SHSQ1082fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.SHSQ989fs	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1065					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCAGTCTTCTCATTCACAGGCCCAACTT	0.414													27	94	---	---	---	---					-	69726985	CTCATTCACA	-	69726976	7	5	476	1	0	1	0	1	0	0	0	0	10430	913	32	0	3298	0	NFAT5	16	69726976	Frame_Shift_Del	DEL	CTCATTCACA	TCGA-QK-A6II-01A-11D-A31L-08	39603251	69726976	20627777	146	91654											
MLYCD	23417	broad.mit.edu	37	chr16	83948911	83948911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcggtgctgtggcgcatCaactggatggcggatgtgag	6	8	20	7	3	1	1	1	1	0	0	1	3	1	3	0	7	2	2	0	7	1	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr16:83948911C>G	ENST00000262430.4	+	5	1318	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	433					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGTGGCGCATCAACTGGATGG	0.647													34	98					0	0	0	0	G	83948911	C	G	83948911	3	3	476	1	0	0	0	0	1	0	0	0	9707	816	29	2	1317	2	MLYCD	16	83948911	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	14221935	83948911	6405842	147	91655											
SMYD4	114826	broad.mit.edu	37	chr17	1703375	1703375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacagaggaatttgtgcTctgggctatggttttcagtg	8	13	14	6	0	2	1	1	0	1	1	2	3	2	2	0	3	2	4	0	3	2	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:1703375T>C	ENST00000305513.7	-	5	1480	c.1313A>G	c.(1312-1314)gAg>gGg	p.E438G		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	438							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GAATTTGTGCTCTGGGCTATG	0.453													22	69					0	0	0	0	C	1703375	T	C	1703375	3	2	476	1	0	0	0	0	1	0	0	0	14912	1551	54	5	1129	5	SMYD4	17	1703375	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08		1703375	79491835	148	91656											
TNK1	8711	broad.mit.edu	37	chr17	7291834	7291835	+	Frame_Shift_Ins	INS	-	-	G																															ctgtgccccagggacctccaINSggcctgcctccacgcccacc																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:7291834_7291835insG	ENST00000570896.1	+	12	2033_2034	c.1587_1588insG	c.(1585-1590)ccgcctfs	p.P530fs	TNK1_ENST00000576812.1_Frame_Shift_Ins_p.P535fs|TNK1_ENST00000311668.2_Frame_Shift_Ins_p.P530fs			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	535	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				AGGGACCTCCAGGCCTGCCTCC	0.614													21	53	---	---	---	---					G	7291835	-	G	7291834	7	5	476	1	0	1	1	0	0	0	0	0	16411	175	7	0	1625	0	TNK1	17	7291834	Frame_Shift_Ins	INS	-	TCGA-QK-A6II-01A-11D-A31L-08	5588459	7291834	73903376	149	91657											
TP53	7157	broad.mit.edu	37	chr17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggcacaaacacgcacctCaaagctgttccgtcccagta	13	6	7	15	2	1	0	1	0	0	0	3	0	3	0	3	1	2	5	3	1	3	2	rs67389650		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:7577127C>T	ENST00000420246.2	-	8	943	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E271K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)		ACACGCACCTCAAAGCTGTTC	0.537		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)			10	10					0	0	0	0	T	7577127	C	T	7577127	3	4	476	1	0	0	0	0	1	0	0	0	16476	835	29	2	475	2	TP53	17	7577127	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	285293	7577127	73618083	150	91658											
WSB1	26118	broad.mit.edu	37	chr17	25631813	25631813	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatcatatttaggaaaactCctccttaacttggtagatca	13	14	5	9	0	2	1	2	0	0	1	4	2	4	2	2	2	2	1	2	2	7	7			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:25631813C>A	ENST00000262394.2	+	4	802	c.486C>A	c.(484-486)ctC>ctA	p.L162L	WSB1_ENST00000348811.2_Silent_p.L16L|WSB1_ENST00000579733.1_Silent_p.L16L|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Silent_p.L131L|WSB1_ENST00000581185.1_Silent_p.L162L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	162					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TAGGAAAACTCCTCCTTAACT	0.358													13	32					1.49906e-05	1.52458e-05	1	0	A	25631813	C	A	25631813	2	1	476	1	0	0	0	0	0	0	0	1	17500	842	30	2		2	WSB1	17	25631813	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	18054686	25631813	55563397	151	91659											
ACACA	31	broad.mit.edu	37	chr17	35580468	35580468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcactacttggttgctgtGatagaagaagtttggtagga	10	13	12	6	0	1	3	1	1	0	2	1	4	1	4	1	3	2	4	1	3	5	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:35580468G>C	ENST00000353139.5	-	28	4010	c.3529C>G	c.(3529-3531)Cac>Gac	p.H1177D	ACACA_ENST00000394406.2_Missense_Mutation_p.H1140D|ACACA_ENST00000335166.5_Missense_Mutation_p.H1062D|ACACA_ENST00000360679.3_Missense_Mutation_p.H1082D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1140					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGTTGCTGTGATAGAAGAAG	0.388													22	72					0	0	0	0	C	35580468	G	C	35580468	3	2	476	1	0	0	0	0	1	0	0	0	106	1290	45	2	3738	2	ACACA	17	35580468	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	9948655	35580468	45614742	152	91660											
STAT5A	6776	broad.mit.edu	37	chr17	40453425	40453425	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgaaggccaccatcatCagtgagcagcaggccaagtc	12	5	12	12	0	2	2	2	2	0	0	3	2	2	2	3	3	2	2	3	3	2	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:40453425C>T	ENST00000345506.4	+	10	1764	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	STAT5A_ENST00000590949.1_Silent_p.I374I|STAT5A_ENST00000546010.2_Silent_p.I344I|STAT5A_ENST00000588868.1_Silent_p.I374I|STAT5A_ENST00000452307.2_Silent_p.I374I	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	374					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCACCATCATCAGTGAGCAGC	0.577													28	56					0	0	0	0	T	40453425	C	T	40453425	2	4	476	1	0	0	0	0	0	0	0	1	15358	816	29	2		2	STAT5A	17	40453425	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	4872957	40453425	40741785	153	91661											
MAP3K14	9020	broad.mit.edu	37	chr17	43348459	43348459	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcggaagaactgagtcCaggggtggcagccgttgagc	8	6	16	11	2	0	3	0	2	0	1	2	4	1	4	3	4	3	2	3	4	2	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:43348459C>T	ENST00000344686.2	-	0	1892							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAACTGAGTCCAGGGGTGGCA	0.667											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					0	0	0	0	T	43348459	C	T	43348459	1	4	476	0	1	0	0	0	0	0	0	0	9317	595	21	4		4	MAP3K14	17	43348459	RNA	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2895034	43348459	37846751	154	91662											
SAP30BP	29115	broad.mit.edu	37	chr17	73664664	73664664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgtctagggggtgatgaaGatggttatgaagaagaagaa	14	9	15	3	1	1	7	0	3	1	4	2	7	1	7	0	3	0	1	0	3	7	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:73664664G>C	ENST00000584667.1	+	2	432	c.175G>C	c.(175-177)Gat>Cat	p.D59H	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.D59H	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	59					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTGATGAAGATGGTTATGA	0.408													18	40					0	0	0	0	C	73664664	G	C	73664664	3	2	476	1	0	0	0	0	1	0	0	0	13920	942	33	2	181	2	SAP30BP	17	73664664	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	30316205	73664664	7530546	155	91663											
SYT4	6860	broad.mit.edu	37	chr18	40854064	40854064	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaaggactgccaggtttGaggttggttttgggaaaatt	10	13	14	4	0	1	2	1	1	0	1	1	4	1	4	1	5	1	3	1	5	3	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:40854064G>C	ENST00000255224.3	-	2	698	c.330C>G	c.(328-330)ctC>ctG	p.L110L	SYT4_ENST00000590752.1_Silent_p.L92L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	110						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCCAGGTTTGAGGTTGGTTT	0.413													18	62					0	0	0	0	C	40854064	G	C	40854064	2	2	476	1	0	0	0	0	0	0	0	1	15567	1277	45	2		2	SYT4	18	40854064	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		40854064	37223184	156	91664											
MEX3C	51320	broad.mit.edu	37	chr18	48723007	48723007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcggtggtgttgacgctCtttctccggagcagggccgc	4	10	14	13	4	2	1	0	1	2	0	4	2	2	2	2	4	1	3	2	4	0	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:48723007C>G	ENST00000592416.1	-	1	122	c.123G>C	c.(121-123)aaG>aaC	p.K41N	MEX3C_ENST00000591040.1_Intron			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C	228						cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TGTTGACGCTCTTTCTCCGGA	0.731													4	7					0	0	0	0	G	48723007	C	G	48723007	3	3	476	1	0	0	0	0	1	0	0	0	9580	912	32	2	1303	2	MEX3C	18	48723007	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	7868943	48723007	29354241	157	91665											
DCC	1630	broad.mit.edu	37	chr18	50734082	50734082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggactatcttataaactgGaaggcctgaaaaaattcacc	16	10	7	8	0	2	1	1	1	1	0	2	3	2	3	2	3	1	0	2	3	8	4			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:50734082G>A	ENST00000442544.2	+	11	2372	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	DCC_ENST00000581580.1_Missense_Mutation_p.E241K|DCC_ENST00000412726.1_Missense_Mutation_p.E434K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	586	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTATAAACTGGAAGGCCTGAA	0.378													18	38					0	0	0	0	A	50734082	G	A	50734082	3	1	476	1	0	0	0	0	1	0	0	0	4314	1175	41	2	1798	2	DCC	18	50734082	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	2011075	50734082	27343166	158	91666											
CSNK1G2	1455	broad.mit.edu	37	chr19	1979345	1979345	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaaggagcggtaccagAagatcggggacaccaaacgc	13	3	13	12	4	1	2	1	0	0	2	2	4	1	4	2	4	3	2	2	4	4	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:1979345A>C	ENST00000255641.8	+	8	1291	c.796A>C	c.(796-798)Aag>Cag	p.K266Q		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	266	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		GCGGTACCAGAAGATCGGGGA	0.716													3	10					0	0	0	0	C	1979345	A	C	1979345	3	2	476	1	0	0	0	0	1	0	0	0	3987	247	9	5	822	5	CSNK1G2	19	1979345	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08		1979345	57149638	159	91667											
DNM2	1785	broad.mit.edu	37	chr19	10897294	10897294	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacgtagcaaactacagAgccagctgctgtccctggag	10	7	10	14	1	0	1	0	0	0	1	1	2	1	2	3	1	7	4	3	1	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:10897294A>T	ENST00000314646.5	+	7	1068	c.904A>T	c.(904-906)Agc>Tgc	p.S302C	DNM2_ENST00000585892.1_Missense_Mutation_p.S302C|DNM2_ENST00000408974.4_Missense_Mutation_p.S302C|DNM2_ENST00000389253.4_Missense_Mutation_p.S302C|DNM2_ENST00000359692.6_Missense_Mutation_p.S302C|DNM2_ENST00000355667.6_Missense_Mutation_p.S302C			P50570	DYN2_HUMAN	dynamin 2	302					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAAACTACAGAGCCAGCTGCT	0.592			"F, N, Splice, Mis, O"		ETP ALL								23	57					0	0	0	0	T	10897294	A	T	10897294	3	4	476	1	0	0	0	0	1	0	0	0	4708	304	11	5	930	5	DNM2	19	10897294	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	8917949	10897294	48231689	160	91668											
NACC1	112939	broad.mit.edu	37	chr19	13246121	13246121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtactgtgacgtgtcaGtggtggtcaagggccatgcc	6	10	15	10	1	2	1	2	1	0	0	2	1	2	1	3	3	2	1	3	3	2	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:13246121G>C	ENST00000292431.4	+	2	226	c.100G>C	c.(100-102)Gtg>Ctg	p.V34L		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	34	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGACGTGTCAGTGGTGGTCAA	0.617													14	71					0	0	0	0	C	13246121	G	C	13246121	3	2	476	1	0	0	0	0	1	0	0	0	10205	1029	36	4	102	4	NACC1	19	13246121	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	2348827	13246121	45882862	161	91669											
SLC25A42	284439	broad.mit.edu	37	chr19	19217186	19217186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcggatggccgtaaccccGaaggaaatgtgagtccttac	10	7	13	11	4	0	1	0	1	0	0	1	4	1	3	4	3	2	1	4	3	4	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:19217186G>A	ENST00000318596.7	+	6	640	c.489G>A	c.(487-489)ccG>ccA	p.P163P	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	163					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CCGTAACCCCGAAGGAAATGT	0.657													17	40					0	0	0	0	A	19217186	G	A	19217186	2	1	476	1	0	0	0	0	0	0	0	1	14595	1045	37	1		1	SLC25A42	19	19217186	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	5971065	19217186	39911797	162	91670											
ZNF737	100129842	broad.mit.edu	37	chr19	20728308	20728308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggctaaaggctttgccaCagtcttcacatttgtaccgt	9	12	8	12	2	2	0	1	0	1	0	2	0	2	0	3	2	2	3	3	2	3	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:20728308C>T	ENST00000427401.4	-	4	795	c.701G>A	c.(700-702)tGt>tAt	p.C234Y		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	234					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGCTTTGCCACAGTCTTCACA	0.408													4	13					0	0	0	0	T	20728308	C	T	20728308	3	4	476	1	0	0	0	0	1	0	0	0	18220	478	17	4	913	4	ZNF737	19	20728308	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	1511122	20728308	38400675	163	91671											
ZNF91	7644	broad.mit.edu	37	chr19	23543545	23543545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaaatgctttgccacattCttcacacttgtaaggtttct	9	17	6	9	0	3	0	1	0	2	0	3	0	3	0	1	1	2	4	1	1	3	7			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:23543545C>T	ENST00000300619.7	-	4	2441	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E714K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	746						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTCACACTTG	0.338													8	24					0	0	0	0	T	23543545	C	T	23543545	3	4	476	1	0	0	0	0	1	0	0	0	18293	922	32	2	1343	2	ZNF91	19	23543545	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2815237	23543545	35585438	164	91672											
POP4	10775	broad.mit.edu	37	chr19	30101537	30101537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacattaaaccagagcagcaGaggtaacccgagctccccac	14	4	9	14	1	0	2	0	0	0	2	1	4	1	2	4	1	5	4	4	1	3	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:30101537G>A	ENST00000585603.1	+	3	2584	c.282G>A	c.(280-282)caG>caA	p.Q94Q	POP4_ENST00000392279.3_Intron|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_Intron			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	94					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CAGAGCAGCAGAGGTAACCCG	0.582											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	0	0	A	30101537	G	A	30101537	2	1	476	1	0	0	0	0	0	0	0	1	12324	933	33	2		2	POP4	19	30101537	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	6557992	30101537	29027446	165	91673											
ZNF45	7596	broad.mit.edu	37	chr19	44419217	44419217	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagcctgttctttgaataTttaccacagaatcttgatac	11	14	7	9	0	2	3	0	2	2	1	2	3	2	3	2	1	3	2	2	1	5	7			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:44419217T>C	ENST00000269973.5	-	10	1461	c.371A>G	c.(370-372)aAt>aGt	p.N124S	ZNF45_ENST00000589703.1_Missense_Mutation_p.N124S|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	124					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TCTTTGAATATTTACCACAGA	0.403													12	34					0	0	0	0	C	44419217	T	C	44419217	3	2	476	1	0	0	0	0	1	0	0	0	18016	1493	52	5	1681	5	ZNF45	19	44419217	Missense_Mutation	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	14317680	44419217	14709766	166	91674											
PNMAL1	55228	broad.mit.edu	37	chr19	46973715	46973715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctttcttcaccttcctcCctgctgctaaagcccaggct	5	14	6	16	0	3	0	1	0	2	0	5	0	5	0	4	1	3	4	4	1	2	5			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:46973715C>T	ENST00000313683.10	-	2	883	c.578G>A	c.(577-579)gGg>gAg	p.G193E	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G193E	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	193										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CACCTTCCTCCCTGCTGCTAA	0.592													21	82					0	0	0	0	T	46973715	C	T	46973715	3	4	476	1	0	0	0	0	1	0	0	0	12229	623	22	4	771	4	PNMAL1	19	46973715	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2554498	46973715	12155268	167	91675											
ZNF835	90485	broad.mit.edu	37	chr19	57175283	57175283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggcgagcgaggagccctgGctgaaagctttgccgcactc	8	6	15	12	3	0	1	0	1	0	0	1	4	0	2	2	3	4	3	2	3	1	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:57175283G>A	ENST00000537055.2	-	2	1515	c.1284C>T	c.(1282-1284)agC>agT	p.S428S		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.S450R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGAGCCCTGGCTGAAAGCTT	0.672													12	35					0	0	0	0	A	57175283	G	A	57175283	2	1	476	1	0	0	0	0	0	0	0	1	18279	1194	42	4		4	ZNF835	19	57175283	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	10201568	57175283	1953700	168	91676											
ATRN	8455	broad.mit.edu	37	chr20	3528031	3528031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctgaaaactggaaaggtGaagcatgtgacattcctcac	13	10	10	8	0	2	3	1	3	1	0	3	4	3	4	1	2	2	2	1	2	4	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:3528031G>A	ENST00000262919.5	+	5	906	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ATRN_ENST00000446916.2_Missense_Mutation_p.E280K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	280					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGGAAAGGTGAAGCATGTGA	0.438													13	56					0	0	0	0	A	3528031	G	A	3528031	3	1	476	1	0	0	0	0	1	0	0	0	1210	1291	45	2	856	2	ATRN	20	3528031	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		3528031	59497489	169	91677											
CBFA2T2	9139	broad.mit.edu	37	chr20	32217648	32217648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacggtacaatgaaaacacaGagctgaggaaaacggggacc	17	3	13	8	2	0	3	0	2	0	1	0	6	0	5	1	4	4	2	1	4	6	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:32217648G>C	ENST00000346541.3	+	9	1720	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.E366Q|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.E395Q|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.E405Q|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.E386Q	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	395						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGAAAACACAGAGCTGAGGAA	0.522													12	40					0	0	0	0	C	32217648	G	C	32217648	3	2	476	1	0	0	0	0	1	0	0	0	2722	943	33	2	1251	2	CBFA2T2	20	32217648	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	28689617	32217648	30807872	170	91678											
EIF6	3692	broad.mit.edu	37	chr20	33868521	33868521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgacattgcccaaggctGagagccgctcctccacccgc	7	7	11	16	2	0	2	0	2	0	1	2	3	2	2	5	2	2	2	5	2	1	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:33868521G>A	ENST00000374450.3	-	4	569	c.305C>T	c.(304-306)tCa>tTa	p.S102L	EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374436.3_Missense_Mutation_p.S102L|EIF6_ENST00000374443.3_Intron	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	102					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCAAGGCTGAGAGCCGCTC	0.592													7	12					0	0	0	0	A	33868521	G	A	33868521	3	1	476	1	0	0	0	0	1	0	0	0	5083	1294	45	2	448	2	EIF6	20	33868521	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	1650873	33868521	29156999	171	91679											
TOX2	84969	broad.mit.edu	37	chr20	42574639	42574651	+	Frame_Shift_Del	DEL	TGCAAGACACTGG	TGCAAGACACTGG	-																															agactcgggctccttctactTgcaagacactggtgcattgc																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:42574639_42574651delTGCAAGACACTGG	ENST00000358131.5	+	1	295_307	c.87_99delTGCAAGACACTGG	c.(85-99)ctfs	p.LARHW29fs	TOX2_ENST00000372999.1_Intron|TOX2_ENST00000423191.1_Intron|TOX2_ENST00000341197.3_Intron	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A30E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCCTTCTACTTGCAAGACACTGGTGCATTGCAG	0.587													7	40	---	---	---	---					-	42574651	TGCAAGACACTGG	-	42574639	7	5	476	1	0	1	0	1	0	0	0	0	16473	1799	63	0	192	0	TOX2	20	42574639	Frame_Shift_Del	DEL	TGCAAGACACTGG	TCGA-QK-A6II-01A-11D-A31L-08	8706118	42574639	20450881	172	91680											
SULF2	55959	broad.mit.edu	37	chr20	46307421	46307421	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgctccgtcctcaccGattcaccggccgctccgtgt	3	10	9	19	5	2	0	2	0	0	0	5	1	5	0	7	1	2	2	7	1	0	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:46307421G>T	ENST00000359930.4	-	8	2043	c.1193_splice	c.e8+1	p.R398_splice	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Splice_Site_p.R398_splice|SULF2_ENST00000361612.4_Splice_Site_p.R398_splice|SULF2_ENST00000467815.1_Splice_Site_p.R398_splice	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	398					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTCCTCACCGATTCACCGGC	0.622													67	194					1.35621e-51	1.47334e-51	1	0	T	46307421	G	T	46307421	5	4	476	1	0	0	0	0	0	0	1	0	15461	1072	37	3	1476	3	SULF2	20	46307421	Splice_Site	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	3732782	46307421	16718099	173	91681											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253775	32253775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgtggtaacttgggcCactggaacaatgcagcgtcc	10	8	13	10	2	0	0	0	0	0	0	2	2	1	1	2	3	4	2	2	3	4	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr21:32253775C>T	ENST00000332378.4	-	1	99	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	23						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TAACTTGGGCCACTGGAACAA	0.557													24	68					0	0	0	0	T	32253775	C	T	32253775	2	4	476	1	0	0	0	0	0	0	0	1	8569	581	21	4		4	KRTAP11-1	21	32253775	Silent	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08		32253775	15876120	174	91682											
DNAJC28	54943	broad.mit.edu	37	chr21	34861415	34861415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctttctataagctttttCaatccttataaatgttgcag	11	17	4	9	0	2	0	1	0	1	0	3	0	3	0	2	0	2	3	2	0	6	8			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr21:34861415C>G	ENST00000314399.3	-	2	724	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	DNAJC28_ENST00000402202.1_Missense_Mutation_p.E96Q|DNAJC28_ENST00000381947.3_Missense_Mutation_p.E96Q	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	96	J.						heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TAAGCTTTTTCAATCCTTATA	0.368													16	52					0	0	0	0	G	34861415	C	G	34861415	3	3	476	1	0	0	0	0	1	0	0	0	4682	835	29	2	884	2	DNAJC28	21	34861415	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	2607640	34861415	13268480	175	91683											
PCNT	5116	broad.mit.edu	37	chr21	47863722	47863722	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaataattctggggaaGggccccgagcacgacagccg	11	7	13	10	3	1	0	0	0	1	0	1	3	1	1	3	3	2	2	3	3	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr21:47863722G>C	ENST00000359568.5	+	45	9807		c.e45-1		PCNT_ENST00000480896.1_Splice_Site	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTCTGGGGAAGGGCCCCGAGC	0.507													16	74					0	0	0	0	C	47863722	G	C	47863722	5	2	476	1	0	0	0	0	0	0	1	0	11661	1014	35	4	9878	4	PCNT	21	47863722	Splice_Site	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	13002307	47863722	266173	176	91684											
CLDN5	7122	broad.mit.edu	37	chr22	19511491	19511491	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgcgcccgccagggtcacGaagagcgcaacgaacgccag	10	2	14	15	7	1	1	1	0	0	1	1	3	1	1	3	1	4	1	3	1	3	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr22:19511491G>A	ENST00000406028.1	-	2	1603	c.543C>T	c.(541-543)ttC>ttT	p.F181F	CLDN5_ENST00000413119.2_Silent_p.F181F|CLDN5_ENST00000403084.1_Silent_p.F181F			O00501	CLD5_HUMAN	claudin 5	96					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CCAGGGTCACGAAGAGCGCAA	0.711													3	5					0	0	0	0	A	19511491	G	A	19511491	2	1	476	1	0	0	0	0	0	0	0	1	3518	1049	37	1		1	CLDN5	22	19511491	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		19511491	31793075	177	91685											
NF2	4771	broad.mit.edu	37	chr22	30077427	30077427	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgataccctcttgccggcaGagtggaatacatggaaaaga	14	8	11	8	1	1	3	0	1	1	2	1	5	1	5	2	3	3	1	2	3	5	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr22:30077427G>A	ENST00000338641.4	+	15	2015		c.e15-1		NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000347330.5_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000397789.3_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(6)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTTGCCGGCAGAGTGGAATAC	0.537			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				68	47					0	0	0	0	A	30077427	G	A	30077427	5	1	476	1	0	0	0	0	0	0	1	0	10427	956	33	2	1632	2	NF2	22	30077427	Splice_Site	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	10565936	30077427	21227139	178	91686											
SHOX	6473	broad.mit.edu	37	chrX	591898	591898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagaattcggcaccgcgaGagtggcagaaggtaagttcc	13	6	14	8	3	0	3	0	0	0	3	2	5	1	3	2	3	0	4	2	3	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:591898G>C	ENST00000381578.1	+	2	957	c.266G>C	c.(265-267)aGa>aCa	p.R89T	SHOX_ENST00000554971.1_Missense_Mutation_p.R89T|SHOX_ENST00000334060.3_Missense_Mutation_p.R89T|SHOX_ENST00000381575.1_Missense_Mutation_p.R89T	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	89					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCACCGCGAGAGTGGCAGAA	0.652													29	70					0	0	0	0	C	591898	G	C	591898	3	2	476	1	0	0	0	0	1	0	0	0	14376	942	33	2	268	2	SHOX	23	591898	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08		591898	154678662	179	91687											
PNPLA4	8228	broad.mit.edu	37	chrX	7870135	7870135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatggttactgtccggccGacgggcaggatgggaagagc	9	6	18	8	3	0	2	0	0	0	2	1	6	1	4	2	5	2	2	2	5	2	1			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:7870135G>A	ENST00000381042.4	-	6	695	c.525C>T	c.(523-525)gtC>gtT	p.V175V	PNPLA4_ENST00000537427.1_Silent_p.V88V|PNPLA4_ENST00000444736.1_Silent_p.V175V	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	175	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				CTGTCCGGCCGACGGGCAGGA	0.547													18	33					0	0	0	0	A	7870135	G	A	7870135	2	1	476	1	0	0	0	0	0	0	0	1	12239	1045	37	1		1	PNPLA4	23	7870135	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	7278237	7870135	147400425	180	91688											
TRAPPC2	6399	broad.mit.edu	37	chrX	13734173	13734173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagttctttattccatcttCttgtcttatgtcatgaagca	9	18	6	8	0	5	1	1	1	4	0	6	2	6	1	1	0	1	2	1	0	4	7			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:13734173C>T	ENST00000453655.2	-	5	566	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	TRAPPC2_ENST00000358231.5_Missense_Mutation_p.E92K|TRAPPC2_ENST00000359680.5_Missense_Mutation_p.E92K|TRAPPC2_ENST00000380579.1_Missense_Mutation_p.E92K|TRAPPC2_ENST00000519885.1_Missense_Mutation_p.E92K|TRAPPC2_ENST00000458511.2_Missense_Mutation_p.E126K	NM_001011658.3|NM_001128835.2	NP_001011658.1|NP_001122307.2	Q6IBE5	Q6IBE5_HUMAN	trafficking protein particle complex 2	92					ER to Golgi vesicle-mediated transport	intracellular				kidney(1)	1						ATTCCATCTTCTTGTCTTATG	0.279													4	11					0	0	0	0	T	13734173	C	T	13734173	3	4	476	1	0	0	0	0	1	0	0	0	16553	922	32	2	156	2	TRAPPC2	23	13734173	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	5864038	13734173	141536387	181	91689											
CNKSR2	22866	broad.mit.edu	37	chrX	21550081	21550081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttctggatcaggaatatcGaaagagatttaatattgtcg	14	14	9	4	2	2	1	1	0	1	1	4	5	2	3	0	2	0	0	0	2	5	6			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:21550081G>A	ENST00000425654.2	+	11	1679	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	CNKSR2_ENST00000379510.3_Missense_Mutation_p.R400Q|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R351Q|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R400Q|CNKSR2_ENST00000485012.1_3'UTR	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	400	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGGAATATCGAAAGAGATTT	0.393													18	46					0	0	0	0	A	21550081	G	A	21550081	3	1	476	1	0	0	0	0	1	0	0	0	3637	1058	37	1	1241	1	CNKSR2	23	21550081	Missense_Mutation	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	7815908	21550081	133720479	182	91690											
YY2	404281	broad.mit.edu	37	chrX	21875100	21875100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagctccagcctgggcacGaggaagtgggagcagaagca	12	3	16	10	1	0	1	0	0	0	1	1	4	1	3	2	3	5	5	2	3	2	0			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:21875100G>A	ENST00000429584.2	+	1	996	c.498G>A	c.(496-498)acG>acA	p.T166T	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GCCTGGGCACGAGGAAGTGGG	0.587													35	57					0	0	0	0	A	21875100	G	A	21875100	2	1	476	1	0	0	0	0	0	0	0	1	17605	1045	37	1		1	YY2	23	21875100	Silent	SNP	G	TCGA-QK-A6II-01A-11D-A31L-08	325019	21875100	133395460	183	91691											
MAGEB6	158809	broad.mit.edu	37	chrX	26213017	26213017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcaggtgtgcaacagtgatCctccatgctatgagttcctg	8	11	12	10	0	0	2	0	2	0	0	3	2	3	2	3	2	3	4	3	2	2	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:26213017C>T	ENST00000379034.1	+	2	1203	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	352	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAACAGTGATCCTCCATGCTA	0.512													64	21					0	0	0	0	T	26213017	C	T	26213017	3	4	476	1	0	0	0	0	1	0	0	0	9248	855	30	2	1056	2	MAGEB6	23	26213017	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	4337917	26213017	129057543	184	91692											
HUWE1	10075	broad.mit.edu	37	chrX	53592084	53592087	+	Frame_Shift_Del	DEL	GACT	GACT	-																															ctccttgggcatcctgctcaGacttgttcttgctagaagca																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:53592084_53592087delGACT	ENST00000342160.3	-	49	7278_7281	c.6821_6824delAGTC	c.(6820-6825)atfs	p.KS2274fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.KS2274fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2274					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCCTGCTCAGACTTGTTCTTGCT	0.52													37	33	---	---	---	---					-	53592087	GACT	-	53592084	7	5	476	1	0	1	0	1	0	0	0	0	7514	942	33	0	6440	0	HUWE1	23	53592084	Frame_Shift_Del	DEL	GACT	TCGA-QK-A6II-01A-11D-A31L-08	27379067	53592084	101678476	185	91693											
AWAT2	158835	broad.mit.edu	37	chrX	69264203	69264203	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcaggatgcttaccTcgctgaggggtcttccagtc	7	9	12	13	1	1	1	0	1	1	0	4	2	2	2	3	3	3	4	3	3	1	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:69264203T>A	ENST00000276101.3	-	2	200	c.196_splice	c.e2+1	p.R65_splice		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	65						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GATGCTTACCTCGCTGAGGGG	0.532													16	6					0	0	0	0	A	69264203	T	A	69264203	5	1	476	1	0	0	0	0	0	0	1	0	1239	1565	54	5	830	5	AWAT2	23	69264203	Splice_Site	SNP	T	TCGA-QK-A6II-01A-11D-A31L-08	15672119	69264203	86006357	186	91694											
UTP14A	10813	broad.mit.edu	37	chrX	129059987	129059987	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttgaaagagaagagggaAgctgtggaggcgagtaagcc	13	7	16	5	1	1	3	0	1	1	2	1	7	1	5	1	3	2	2	1	3	4	3			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:129059987A>T	ENST00000394422.3	+	13	1870	c.1842A>T	c.(1840-1842)gaA>gaT	p.E614D	UTP14A_ENST00000371042.3_Missense_Mutation_p.E446D|UTP14A_ENST00000425117.2_Missense_Mutation_p.E562D|UTP14A_ENST00000371051.5_Missense_Mutation_p.E560D|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	614					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AGAAGAGGGAAGCTGTGGAGG	0.527											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	8					0	0	0	0	T	129059987	A	T	129059987	3	4	476	1	0	0	0	0	1	0	0	0	17191	69	3	5	1892	5	UTP14A	23	129059987	Missense_Mutation	SNP	A	TCGA-QK-A6II-01A-11D-A31L-08	59795784	129059987	26210573	187	91695											
ARHGEF6	9459	broad.mit.edu	37	chrX	135825852	135825852	+	Frame_Shift_Del	DEL	C	C	-																															tcgtgtgacgtaaatgatgtCccccttacaaactgacagtt																										TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:135825852delC	ENST00000250617.6	-	5	1758	c.553delG	c.(553-555)acfs	p.D185fs	ARHGEF6_ENST00000370622.1_Frame_Shift_Del_p.D31fs|ARHGEF6_ENST00000370620.1_Frame_Shift_Del_p.D31fs|ARHGEF6_ENST00000535227.1_Frame_Shift_Del_p.D31fs	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	185	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TAAATGATGTCCCCCTTACAA	0.423													77	52	---	---	---	---					-	135825852	C	-	135825852	7	5	476	1	0	1	0	1	0	0	0	0	912	855	30	0	1849	0	ARHGEF6	23	135825852	Frame_Shift_Del	DEL	C	TCGA-QK-A6II-01A-11D-A31L-08	6765865	135825852	19444708	188	91696											
MAGEA12	4111	broad.mit.edu	37	chrX	151899861	151899861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactcgtgctcagactcactCttccccctctctaaaagccc	9	10	4	18	1	4	1	2	0	2	1	7	1	5	1	3	0	3	1	3	0	3	2			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:151899861C>G	ENST00000393900.3	-	3	1293	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	MAGEA12_ENST00000393869.3_Missense_Mutation_p.E314Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.E314Q	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	314										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)					CAGACTCACTCTTCCCCCTCT	0.552													50	100					0	0	0	0	G	151899861	C	G	151899861	3	3	476	1	0	0	0	0	1	0	0	0	9231	922	32	2	8	2	MAGEA12	23	151899861	Missense_Mutation	SNP	C	TCGA-QK-A6II-01A-11D-A31L-08	16074009	151899861	3370699	189	91697											
UBR4	23352	broad.mit.edu	37	chr1	19464666	19464666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgccataagcactgctcCggccagatactagagggaaa	13	6	10	12	2	0	2	0	0	0	2	2	3	1	3	3	2	3	2	3	2	4	3	rs147072344	by1000genomes	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:19464666C>T	ENST00000375267.2	-	60	8744	c.8741G>A	c.(8740-8742)cGg>cAg	p.R2914Q	UBR4_ENST00000375217.2_Missense_Mutation_p.R2907Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R2890Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R2914Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2914					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			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)		AGCACTGCTCCGGCCAGATAC	0.517													8	40					0	0	0	0	T	19464666	C	T	19464666	3	4	477	1	0	0	0	0	1	0	0	0	17000	652	23	1	6998	1	UBR4	1	19464666	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08		19464666	229785955	1	91698											
HTR6	3362	broad.mit.edu	37	chr1	20005833	20005833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggagcccgagctgcggcCgcatccacttggcatcccca	6	5	12	18	5	0	0	0	0	0	0	2	2	2	1	5	3	3	3	5	3	0	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:20005833C>T	ENST00000289753.1	+	3	1762	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	432					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GAGCTGCGGCCGCATCCACTT	0.677													3	23					0	0	0	0	T	20005833	C	T	20005833	3	4	477	1	0	0	0	0	1	0	0	0	7504	652	23	1	1305	1	HTR6	1	20005833	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	541167	20005833	229244788	2	91699											
SH2D5	400745	broad.mit.edu	37	chr1	21050684	21050684	+	Frame_Shift_Del	DEL	A	A	-																															cttgcgcaccagcgtgggcgAgcagtagggattccccaggc																										TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:21050684delA	ENST00000375031.1	-	6	1063	c.439delT	c.(439-441)cgfs	p.S147fs	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Frame_Shift_Del_p.S231fs	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	147										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCGTGGGCGAGCAGTAGGGA	0.677													10	178	---	---	---	---					-	21050684	A	-	21050684	7	5	477	1	0	1	0	1	0	0	0	0	14324	304	11	0	596	0	SH2D5	1	21050684	Frame_Shift_Del	DEL	A	TCGA-QK-A6IJ-01A-11D-A31L-08	1044851	21050684	228199937	3	91700											
MACF1	23499	broad.mit.edu	37	chr1	39785411	39785411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcccagcagtactctactAttgtaaaggtaactttacca	12	14	5	10	0	1	0	0	0	1	0	2	0	2	0	2	1	5	4	2	1	7	9			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:39785411A>G	ENST00000564288.1	+	31	4798	c.4021A>G	c.(4021-4023)Att>Gtt	p.I1341V	MACF1_ENST00000372915.3_Missense_Mutation_p.I1346V|MACF1_ENST00000361689.2_Missense_Mutation_p.I1346V|MACF1_ENST00000567887.1_Missense_Mutation_p.I1378V|MACF1_ENST00000545844.1_Missense_Mutation_p.I1346V|MACF1_ENST00000317713.7_Missense_Mutation_p.I1346V|MACF1_ENST00000539005.1_Missense_Mutation_p.I1346V|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1346					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTACTCTACTATTGTAAAGGT	0.358													4	35					0	0	0	0	G	39785411	A	G	39785411	3	3	477	1	0	0	0	0	1	0	0	0	9209	449	16	5	4154	5	MACF1	1	39785411	Missense_Mutation	SNP	A	TCGA-QK-A6IJ-01A-11D-A31L-08	18734727	39785411	209465210	4	91701											
OLFM3	118427	broad.mit.edu	37	chr1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagctttttcatgcagtcaCgaagtcttgtttccaagctc	8	16	7	10	1	3	0	2	0	1	0	5	1	4	0	1	0	3	4	1	0	3	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:102290602C>T	ENST00000370103.4	-	4	785	c.572G>A	c.(571-573)cGt>cAt	p.R191H	OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	211						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373													4	41					0	0	0	0	T	102290602	C	T	102290602	3	4	477	1	0	0	0	0	1	0	0	0	10925	536	19	1	816	1	OLFM3	1	102290602	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	62505191	102290602	146960019	5	91702											
COL11A1	1301	broad.mit.edu	37	chr1	103381222	103381222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaggccctgggttccCtgcttctccaggttcaccct	4	10	10	17	0	2	0	1	0	1	0	4	1	3	1	5	4	1	3	5	4	0	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:103381222C>G	ENST00000358392.2	-	50	4134	c.3817G>C	c.(3817-3819)Ggg>Cgg	p.G1273R	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1145R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1261R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1222R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1261	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGGTTCCCTGCTTCTCCA	0.353													11	80					0	0	0	0	G	103381222	C	G	103381222	3	3	477	1	0	0	0	0	1	0	0	0	3697	681	24	4	1711	4	COL11A1	1	103381222	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	1090620	103381222	145869399	6	91703											
COPA	1314	broad.mit.edu	37	chr1	160275290	160275290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccccactctcatcccaggCcccactcttgacacgaatgt	9	9	5	18	1	2	1	1	1	2	0	4	2	3	1	5	1	1	0	5	1	2	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:160275290C>T	ENST00000241704.7	-	17	1829	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T	COPA_ENST00000368069.3_Missense_Mutation_p.A543T	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	534					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATCCCAGGCCCCACTCTTG	0.438													12	78					0	0	0	0	T	160275290	C	T	160275290	3	4	477	1	0	0	0	0	1	0	0	0	3757	739	26	4	2142	4	COPA	1	160275290	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	56894068	160275290	88975331	7	91704											
ZNF648	127665	broad.mit.edu	37	chr1	182025763	182025763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtggcgcacgaggcgCgagggctgcgcgaaggccac	6	3	19	13	7	0	0	0	0	0	0	0	3	0	0	1	5	1	3	1	5	1	0			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:182025763C>T	ENST00000339948.3	-	2	1590	c.1383G>A	c.(1381-1383)tcG>tcA	p.S461S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S461S(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCACGAGGCGCGAGGGCTGCG	0.667													3	15					0	0	0	0	T	182025763	C	T	182025763	2	4	477	1	0	0	0	0	0	0	0	1	18158	755	27	1		1	ZNF648	1	182025763	Silent	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	21750473	182025763	67224858	8	91705											
PPP1R12B	4660	broad.mit.edu	37	chr1	202394713	202394713	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgatctagagcagtcAagaaaagaagaagagcagca	18	5	13	5	0	2	6	1	1	1	5	2	7	2	7	0	1	3	4	0	1	6	2	rs147755572	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:202394713A>G	ENST00000406302.3	+	4	714	c.561A>G	c.(559-561)tcA>tcG	p.S187S	PPP1R12B_ENST00000336894.4_Silent_p.S187S|PPP1R12B_ENST00000356764.2_Silent_p.S187S|PPP1R12B_ENST00000480184.1_Silent_p.S187S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	187					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAGAGCAGTCAAGAAAAGAAG	0.478													9	310					0	0	0	0	G	202394713	A	G	202394713	2	3	477	1	0	0	0	0	0	0	0	1	12431	117	5	5		5	PPP1R12B	1	202394713	Silent	SNP	A	TCGA-QK-A6IJ-01A-11D-A31L-08	20368950	202394713	46855908	9	91706											
CR2	1380	broad.mit.edu	37	chr1	207647012	207647012	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcttgtgggaaacaaaTccattcactgtatgccttca	11	14	7	9	0	2	0	2	0	0	0	3	1	3	1	2	1	3	2	2	1	3	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:207647012T>A	ENST00000367057.3	+	11	2290	c.2101T>A	c.(2101-2103)Tcc>Acc	p.S701T	CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Intron|CR2_ENST00000458541.2_Intron	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	716	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGGAAACAAATCCATTCACTG	0.458													12	129					0	0	0	0	A	207647012	T	A	207647012	3	1	477	1	0	0	0	0	1	0	0	0	3872	1435	50	5	2143	5	CR2	1	207647012	Missense_Mutation	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08	5252299	207647012	41603609	10	91707											
CENPF	1063	broad.mit.edu	37	chr1	214813371	214813371	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttgctgtggctgatctgGaaaagcagcgagattgttct	9	12	13	7	1	2	2	0	1	2	1	2	4	2	3	0	2	4	5	0	2	2	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:214813371G>T	ENST00000366955.3	+	12	1858	c.1690G>T	c.(1690-1692)Gaa>Taa	p.E564*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	564					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGCTGATCTGGAAAAGCAGCG	0.368													26	156					2.41591e-17	2.78569e-17	1	0	T	214813371	G	T	214813371	4	4	477	1	0	0	0	0	0	1	0	0	3260	1175	41	2	1732	2	CENPF	1	214813371	Nonsense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	7166359	214813371	34437250	11	91708											
FMN2	56776	broad.mit.edu	37	chr1	240256708	240256708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgcccaatcactccccGtctcagtcccctaatcagag	9	8	6	18	2	3	1	3	0	1	1	7	1	5	1	5	0	1	1	5	0	2	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:240256708G>A	ENST00000319653.9	+	1	1529	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	433					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATCACTCCCCGTCTCAGTCCC	0.672													14	86					0	0	0	0	A	240256708	G	A	240256708	2	1	477	1	0	0	0	0	0	0	0	1	5995	1132	40	1		1	FMN2	1	240256708	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	25443337	240256708	8993913	12	91709											
OR2W5	441932	broad.mit.edu	37	chr1	247654618	247654618	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccatgtacttctttctTgggaatctgtctttcttaga	8	17	6	10	0	5	1	0	0	5	1	5	2	5	2	1	1	1	1	1	1	3	6			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:247654618T>G	ENST00000522351.1	+	0	249							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACTTCTTTCTTGGGAATCTGT	0.517													5	41					0	0	0	0	G	247654618	T	G	247654618	1	3	477	0	1	0	0	0	0	0	0	0	11105	1799	63	5		5	OR2W5	1	247654618	RNA	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08	7397910	247654618	1596003	13	91710											
DNMT3A	1788	broad.mit.edu	37	chr2	25469607	25469607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcactctcatcgctgtcgtgGcacaccgggaacagcttccc	7	9	9	16	3	2	0	2	0	1	0	6	1	3	1	2	2	2	3	2	2	1	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:25469607G>A	ENST00000264709.3	-	10	1498	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	DNMT3A_ENST00000321117.5_Silent_p.C387C|DNMT3A_ENST00000380746.4_Silent_p.C198C|DNMT3A_ENST00000402667.1_Silent_p.C164C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	387	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGTCGTGGCACACCGGGA	0.647			"Mis, F, N, S"		AML								4	113					0	0	0	0	A	25469607	G	A	25469607	2	1	477	1	0	0	0	0	0	0	0	1	4712	1195	42	4		4	DNMT3A	2	25469607	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		25469607	217729766	14	91711											
ASXL2	55252	broad.mit.edu	37	chr2	25964902	25964902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttctagtctcattacCgaacgacaaggcaggagacg	11	10	9	11	3	3	1	1	0	3	1	5	4	3	1	1	2	2	1	1	2	4	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:25964902C>T	ENST00000435504.4	-	13	4597	c.4304G>A	c.(4303-4305)cGg>cAg	p.R1435Q	ASXL2_ENST00000336112.4_Missense_Mutation_p.R1407Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.R918Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.R918Q			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTCATTACCGAACGACAAG	0.488													9	63					0	0	0	0	T	25964902	C	T	25964902	3	4	477	1	0	0	0	0	1	0	0	0	1071	652	23	1	7	1	ASXL2	2	25964902	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	495295	25964902	217234471	15	91712											
LCLAT1	253558	broad.mit.edu	37	chr2	30682532	30682532	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacccatggtcaattaaCgaggcagtttctagctactg	11	11	9	10	1	2	1	1	1	1	0	2	2	2	1	1	2	4	3	1	2	5	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:30682532C>T	ENST00000309052.4	+	2	263	c.54C>T	c.(52-54)aaC>aaT	p.N18N	LCLAT1_ENST00000319406.4_Silent_p.N18N|LCLAT1_ENST00000379509.3_Intron|LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000359433.1_Silent_p.N18N|LCLAT1_ENST00000491680.2_Intron	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	18					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGTCAATTAACGAGGCAGTTT	0.428													9	195					0	0	0	0	T	30682532	C	T	30682532	2	4	477	1	0	0	0	0	0	0	0	1	8730	535	19	1		1	LCLAT1	2	30682532	Silent	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	4717630	30682532	212516841	16	91713											
PCGF1	84759	broad.mit.edu	37	chr2	74733307	74733307	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcccgcggccaaggacataCcttccccagtgggctgggtg	6	7	14	14	2	0	0	0	0	0	0	2	1	2	1	5	4	1	1	5	4	2	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:74733307C>T	ENST00000233630.6	-	4	1336		c.e4+1		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						CAAGGACATACCTTCCCCAGT	0.527													49	146					0	0	0	0	T	74733307	C	T	74733307	5	4	477	1	0	0	0	0	0	0	1	0	11645	521	18	4	378	4	PCGF1	2	74733307	Splice_Site	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	44050775	74733307	168466066	17	91714											
REG1A	5967	broad.mit.edu	37	chr2	79348732	79348732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggcccggatcagctgcCcagaaggcaccaatgcctat	10	5	10	16	1	1	1	1	0	0	1	1	2	1	2	5	3	3	2	5	3	3	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:79348732C>T	ENST00000233735.1	+	3	212	c.109C>T	c.(109-111)Cca>Tca	p.P37S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	37	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.P37A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GATCAGCTGCCCAGAAGGCAC	0.527													7	278					0	0	0	0	T	79348732	C	T	79348732	3	4	477	1	0	0	0	0	1	0	0	0	13292	623	22	4	115	4	REG1A	2	79348732	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	4615425	79348732	163850641	18	91715											
POTEE	445582	broad.mit.edu	37	chr2	131976330	131976330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaagagcaaggtgggcGcttggggagactacgatgac	10	5	18	8	3	0	3	0	1	0	2	0	5	0	3	0	5	2	3	0	5	3	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:131976330G>A	ENST00000356920.5	+	1	449	c.355G>A	c.(355-357)Gct>Act	p.A119T	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.A119T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	119							ATP binding										CAAGGTGGGCGCTTGGGGAGA	0.597													15	144					0	0	0	0	A	131976330	G	A	131976330	3	1	477	1	0	0	0	0	1	0	0	0	12336	1087	38	1	357	1	POTEE	2	131976330	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	52627598	131976330	111223043	19	91716											
ZRANB3	84083	broad.mit.edu	37	chr2	135965292	135965292	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaaggcaaagtggatttccTtcattatccacagcttgcaa	12	11	8	10	1	1	0	1	0	0	0	3	2	3	1	2	2	2	3	2	2	4	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:135965292T>C	ENST00000401392.1	-	19	2927	c.2715A>G	c.(2713-2715)gaA>gaG	p.E905E	ZRANB3_ENST00000264159.6_Silent_p.E907E|ZRANB3_ENST00000536680.1_Silent_p.E905E|ZRANB3_ENST00000412849.1_5'UTR			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	907						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGGATTTCCTTCATTATCCA	0.468													6	152					0	0	0	0	C	135965292	T	C	135965292	2	2	477	1	0	0	0	0	0	0	0	1	18317	1606	56	5		5	ZRANB3	2	135965292	Silent	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08	3988962	135965292	107234081	20	91717											
SCN3A	6328	broad.mit.edu	37	chr2	166032861	166032861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattctctagtaaaaaggCggaagctttcaggtcctggg	11	10	13	7	1	2	1	1	0	1	1	4	3	3	2	1	4	1	2	1	4	5	4	rs139769668	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:166032861C>T	ENST00000360093.3	-	3	535	c.44G>A	c.(43-45)cGc>cAc	p.R15H	SCN3A_ENST00000409101.3_Missense_Mutation_p.R15H|SCN3A_ENST00000283254.7_Missense_Mutation_p.R15H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	15						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R15H(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAAAAAGGCGGAAGCTTTC	0.428													9	82					0	0	0	0	T	166032861	C	T	166032861	3	4	477	1	0	0	0	0	1	0	0	0	14005	768	27	1	6158	1	SCN3A	2	166032861	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	30067569	166032861	77166512	21	91718											
MRPL44	65080	broad.mit.edu	37	chr2	224831662	224831662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagtggcccttagaaaaCtttatggattcacagaaaat	14	11	8	8	1	1	2	1	0	0	2	2	4	1	3	1	2	1	0	1	2	6	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:224831662C>G	ENST00000258383.3	+	4	979	c.910C>G	c.(910-912)Ctt>Gtt	p.L304V	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	304	DRBM.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTTAGAAAACTTTATGGATT	0.453													5	88					0	0	0	0	G	224831662	C	G	224831662	3	3	477	1	0	0	0	0	1	0	0	0	9878	565	20	4	924	4	MRPL44	2	224831662	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	58798801	224831662	18367711	22	91719											
SLC16A14	151473	broad.mit.edu	37	chr2	230911162	230911162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgcgctggcaggccaCgcacatctttctctcctggg	5	10	13	13	2	2	0	0	0	2	0	4	1	3	1	2	4	1	3	2	4	0	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:230911162C>T	ENST00000295190.4	-	4	1138	c.680G>A	c.(679-681)cGt>cAt	p.R227H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	227						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGGCAGGCCACGCACATCTTT	0.562													9	86					0	0	0	0	T	230911162	C	T	230911162	3	4	477	1	0	0	0	0	1	0	0	0	14495	536	19	1	860	1	SLC16A14	2	230911162	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	6079500	230911162	12288211	23	91720											
FEZF2	55079	broad.mit.edu	37	chr3	62355881	62355881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctttgccgcaagtggcGcacgtgaaaggcttcttgtc	8	10	11	12	3	1	1	0	1	1	0	2	1	1	1	2	2	2	3	2	2	3	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:62355881G>A	ENST00000283268.3	-	5	1551	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	FEZF2_ENST00000486811.1_Silent_p.C419C|FEZF2_ENST00000475839.1_Silent_p.C419C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	419					transcription, DNA-dependent	nucleus	zinc ion binding	p.C419C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGCAAGTGGCGCACGTGAAAG	0.522													5	146					0	0	0	0	A	62355881	G	A	62355881	2	1	477	1	0	0	0	0	0	0	0	1	5871	1079	38	1		1	FEZF2	3	62355881	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		62355881	135666549	24	91721											
KIAA1407	57577	broad.mit.edu	37	chr3	113684062	113684062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattgctgatatagctcGtggtaccttccaggtacctg	7	14	10	10	1	1	2	0	2	1	0	3	2	2	2	3	2	4	4	3	2	4	6			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:113684062G>A	ENST00000295878.3	-	17	2897	c.2751C>T	c.(2749-2751)caC>caT	p.H917H		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	917										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GATATAGCTCGTGGTACCTTC	0.418													6	85					0	0	0	0	A	113684062	G	A	113684062	2	1	477	1	0	0	0	0	0	0	0	1	8280	1136	40	1		1	KIAA1407	3	113684062	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	51328181	113684062	84338368	25	91722											
CHRD	8646	broad.mit.edu	37	chr3	184106781	184106781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcacggcccaccggcGgcgtaagtgagggagtccag	7	4	16	14	5	0	1	0	1	0	0	1	2	1	2	4	4	1	3	4	4	1	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:184106781G>A	ENST00000204604.1	+	22	3056	c.2810G>A	c.(2809-2811)cGg>cAg	p.R937Q	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R897Q|CHRD_ENST00000450923.1_Missense_Mutation_p.R937Q|CHRD_ENST00000545352.1_Missense_Mutation_p.R479Q	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	937					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCACCGGCGGCGTAAGTGA	0.637													5	27					0	0	0	0	A	184106781	G	A	184106781	3	1	477	1	0	0	0	0	1	0	0	0	3401	1116	39	1	2896	1	CHRD	3	184106781	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	70422719	184106781	13915649	26	91723											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69327597	69327597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgggttatcggcctcGtcatcttcatatccctgatt	7	14	7	13	2	3	1	2	1	1	0	6	1	4	1	3	2	1	1	3	2	3	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:69327597G>A	ENST00000305363.4	+	2	134	c.70G>A	c.(70-72)Gtc>Atc	p.V24I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	24					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TATCGGCCTCGTCATCTTCAT	0.423													6	277					0	0	0	0	A	69327597	G	A	69327597	3	1	477	1	0	0	0	0	1	0	0	0	16336	1145	40	1	76	1	TMPRSS11E	4	69327597	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		69327597	121826679	27	91724											
ODAM	54959	broad.mit.edu	37	chr4	71063863	71063863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgcctcagacacaaccaGgccccagtcacgtaagtcag	12	4	8	17	2	3	1	3	0	0	1	3	1	3	1	5	1	1	1	5	1	2	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:71063863G>T	ENST00000396094.2	+	4	412	c.364G>T	c.(364-366)Ggc>Tgc	p.G122C		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	122	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GACACAACCAGGCCCCAGTCA	0.473													15	115					2.61681e-11	2.92772e-11	1	0	T	71063863	G	T	71063863	3	4	477	1	0	0	0	0	1	0	0	0	10895	1000	35	4	378	4	ODAM	4	71063863	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	1736266	71063863	120090413	28	91725											
SPP1	6696	broad.mit.edu	37	chr4	88903741	88903741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcccaggacctgaacgCgccttctgattgggacagcc	7	8	12	14	3	1	2	0	2	1	0	1	4	1	4	4	2	3	1	4	2	1	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:88903741C>T	ENST00000237623.7	+	6	744	c.596C>T	c.(595-597)gCg>gTg	p.A199V	SPP1_ENST00000360804.4_Missense_Mutation_p.A186V|SPP1_ENST00000395080.3_Missense_Mutation_p.A213V|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	213					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GACCTGAACGCGCCTTCTGAT	0.532													15	131					0	0	0	0	T	88903741	C	T	88903741	3	4	477	1	0	0	0	0	1	0	0	0	15176	768	27	1	660	1	SPP1	4	88903741	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	17839878	88903741	102250535	29	91726											
PDHA2	5161	broad.mit.edu	37	chr4	96762259	96762259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctataataattctccaaGatagaatggtaaacagcaag	18	10	6	7	0	1	2	0	0	1	2	3	2	2	2	2	1	2	2	2	1	9	6			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:96762259G>A	ENST00000295266.4	+	1	1021	c.958G>A	c.(958-960)Gat>Aat	p.D320N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	320					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AATTCTCCAAGATAGAATGGT	0.418													7	70					0	0	0	0	A	96762259	G	A	96762259	3	1	477	1	0	0	0	0	1	0	0	0	11736	942	33	2	960	2	PDHA2	4	96762259	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	7858518	96762259	94392017	30	91727											
ANK2	287	broad.mit.edu	37	chr4	114262919	114262919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatacagagaaattatctgCgtaccttatatggccaaatt	14	13	7	7	1	1	1	0	0	1	1	1	2	1	1	2	1	3	2	2	1	8	7			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:114262919C>T	ENST00000357077.4	+	33	4022	c.3969C>T	c.(3967-3969)tgC>tgT	p.C1323C	ANK2_ENST00000509550.1_Silent_p.C499C|ANK2_ENST00000506722.1_Silent_p.C1314C|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000264366.6_Silent_p.C1290C|ANK2_ENST00000394537.3_Silent_p.C1323C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1290					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.C1323C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAATTATCTGCGTACCTTATA	0.378													8	109					0	0	0	0	T	114262919	C	T	114262919	2	4	477	1	0	0	0	0	0	0	0	1	621	776	27	1		1	ANK2	4	114262919	Silent	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	17500660	114262919	76891357	31	91728											
SPATA5	166378	broad.mit.edu	37	chr4	123949451	123949451	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgaatgggtattcagccAcctaaaggagttcttctcta	11	13	8	9	1	3	0	1	0	2	0	5	2	3	1	2	2	1	2	2	2	5	7			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:123949451A>G	ENST00000274008.3	+	11	2049	c.1980A>G	c.(1978-1980)ccA>ccG	p.P660P	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	660					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTATTCAGCCACCTAAAGGAG	0.438													4	96					0	0	0	0	G	123949451	A	G	123949451	2	3	477	1	0	0	0	0	0	0	0	1	15101	146	6	5		5	SPATA5	4	123949451	Silent	SNP	A	TCGA-QK-A6IJ-01A-11D-A31L-08	9686532	123949451	67204825	32	91729											
PCDH10	57575	broad.mit.edu	37	chr4	134071624	134071624	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgttccaggtggagaTcgaggtgctggacattaatg	9	10	16	6	1	0	1	0	0	0	1	2	5	1	3	1	5	2	3	1	5	1	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:134071624T>A	ENST00000264360.4	+	1	1155	c.329T>A	c.(328-330)aTc>aAc	p.I110N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGGTGGAGATCGAGGTGCTG	0.577													10	104					0	0	0	0	A	134071624	T	A	134071624	3	1	477	1	0	0	0	0	1	0	0	0	11578	1435	50	5	331	5	PCDH10	4	134071624	Missense_Mutation	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08	10122173	134071624	57082652	33	91730											
PCDH10	57575	broad.mit.edu	37	chr4	134072242	134072242	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaggtaagcggcgagtTggactatgaagagagcccag	12	6	16	7	2	0	2	0	1	0	1	0	6	0	4	1	4	2	2	1	4	3	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:134072242T>G	ENST00000264360.4	+	1	1773	c.947T>G	c.(946-948)tTg>tGg	p.L316W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCGGCGAGTTGGACTATGAA	0.622													10	103					0	0	0	0	G	134072242	T	G	134072242	3	3	477	1	0	0	0	0	1	0	0	0	11578	1821	63	5	949	5	PCDH10	4	134072242	Missense_Mutation	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08	618	134072242	57082034	34	91731											
HTR1A	3350	broad.mit.edu	37	chr5	63257049	63257049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatgggcgggatagagatGaggaagccaataagccaagt	15	5	15	6	1	0	2	0	1	0	1	0	5	0	4	2	3	3	1	2	3	5	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:63257049G>A	ENST00000323865.3	-	1	731	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	166					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGATAGAGATGAGGAAGCCAA	0.607													11	141					0	0	0	0	A	63257049	G	A	63257049	2	1	477	1	0	0	0	0	0	0	0	1	7489	1277	45	2		2	HTR1A	5	63257049	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		63257049	117658211	35	91732											
NLN	57486	broad.mit.edu	37	chr5	65058924	65058924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatatatttgagagaattGttcatttacaggtaagtggt	13	15	11	2	0	1	3	1	1	0	2	1	5	1	3	0	2	1	2	0	2	5	8	rs145570663		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:65058924G>T	ENST00000380985.5	+	3	617	c.439G>T	c.(439-441)Gtt>Ttt	p.V147F	NLN_ENST00000502464.1_Missense_Mutation_p.V43F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	147					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAGAGAATTGTTCATTTACA	0.343													6	50					3.59834e-05	3.69647e-05	1	0	T	65058924	G	T	65058924	3	4	477	1	0	0	0	0	1	0	0	0	10537	1377	48	4	449	4	NLN	5	65058924	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	1801875	65058924	115856336	36	91733											
VCAN	1462	broad.mit.edu	37	chr5	82815253	82815253	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaccacaaatggtttctgaTagaactacaccaatcatccc	15	9	5	12	0	2	2	1	1	1	1	3	3	3	2	3	1	3	1	3	1	6	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:82815253T>G	ENST00000265077.3	+	7	1693	c.1128T>G	c.(1126-1128)gaT>gaG	p.D376E	VCAN_ENST00000512590.2_Missense_Mutation_p.D328E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D376E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	376	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGTTTCTGATAGAACTACAC	0.398													4	109					0	0	0	0	G	82815253	T	G	82815253	3	3	477	1	0	0	0	0	1	0	0	0	17234	1403	49	5	1150	5	VCAN	5	82815253	Missense_Mutation	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08	17756329	82815253	98100007	37	91734											
PCDHA13	56136	broad.mit.edu	37	chr5	140263367	140263367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgggcgagcgtgcgctgtCgagctacgtgtcggtgcacg	4	8	19	10	7	0	0	0	0	0	0	2	2	0	0	0	3	5	3	0	3	1	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140263367C>T	ENST00000289272.2	+	1	1514	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S505L|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCGCTGTCGAGCTACGTG	0.672													20	109					0	0	0	0	T	140263367	C	T	140263367	3	4	477	1	0	0	0	0	1	0	0	0	11594	893	31	1	1516	1	PCDHA13	5	140263367	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	57448114	140263367	40651893	38	91735											
PCDHB2	56133	broad.mit.edu	37	chr5	140476476	140476476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgttggcctcggtgtcttCgctcttcctcttctcggtgc	0	15	12	14	4	4	0	0	0	4	0	8	0	5	0	2	4	1	2	2	4	0	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140476476C>T	ENST00000194155.4	+	1	2250	c.2102C>T	c.(2101-2103)tCg>tTg	p.S701L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.697													23	173					0	0	0	0	T	140476476	C	T	140476476	3	4	477	1	0	0	0	0	1	0	0	0	11613	893	31	1	2104	1	PCDHB2	5	140476476	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	213109	140476476	40438784	39	91736											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718758	140718758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccagaggtaggtcccagCtctttgctctgaacccgcga	7	10	10	14	2	3	2	0	1	3	1	5	3	4	2	3	2	3	3	3	2	2	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140718758C>A	ENST00000394576.2	+	1	220	c.220C>A	c.(220-222)Ctc>Atc	p.L74I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.L74F(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGTCCCAGCTCTTTGCTCT	0.592													15	95					3.52763e-06	3.65709e-06	1	0	A	140718758	C	A	140718758	3	1	477	1	0	0	0	0	1	0	0	0	11625	797	28	4	222	4	PCDHGA2	5	140718758	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	242282	140718758	40196502	40	91737											
ARHGAP26	23092	broad.mit.edu	37	chr5	142264901	142264901	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaaagagacagaaaagtaTtgtggcatcttagaaaaaca	20	7	9	5	0	1	3	0	0	1	3	1	5	1	3	0	1	1	2	0	1	7	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:142264901T>C	ENST00000378004.3	+	5	778	c.423T>C	c.(421-423)taT>taC	p.Y141Y	ARHGAP26_ENST00000274498.4_Silent_p.Y141Y	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	141					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAAAAGTATTGTGGCATCT	0.348													3	45					0	0	0	0	C	142264901	T	C	142264901	2	2	477	1	0	0	0	0	0	0	0	1	877	1500	52	5		5	ARHGAP26	5	142264901	Silent	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08	1546143	142264901	38650359	41	91738											
BTNL3	10917	broad.mit.edu	37	chr5	180419832	180419833	+	Frame_Shift_Ins	INS	-	-	CC																															gacagtggcaagtcactggaINSccgggcaagtttgtccaggc																										TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:180419832_180419833insCC	ENST00000342868.6	+	2	253_254	c.69_70insCC	c.(67-72)ggcgggfs	p.G24fs		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	24					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AAGTCACTGGACCGGGCAAGTT	0.554													12	33	---	---	---	---					CC	180419833	-	CC	180419832	7	5	477	1	0	1	1	0	0	0	0	0	1575	262	10	0	75	0	BTNL3	5	180419832	Frame_Shift_Ins	INS	-	TCGA-QK-A6IJ-01A-11D-A31L-08	38154931	180419832	495428	42	91739											
SLC17A1	6568	broad.mit.edu	37	chr6	25813193	25813193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgacttaagtatagccttgaTaggcagagattgtctacttg	11	13	10	7	1	1	2	0	1	1	1	1	4	1	2	1	1	2	2	1	1	5	8			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr6:25813193T>C	ENST00000244527.4	-	8	878	c.763A>G	c.(763-765)Atc>Gtc	p.I255V	SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000476801.1_Missense_Mutation_p.I255V|SLC17A1_ENST00000427328.1_Intron	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	255					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						ATAGCCTTGATAGGCAGAGAT	0.388													5	77					0	0	0	0	C	25813193	T	C	25813193	3	2	477	1	0	0	0	0	1	0	0	0	14504	1406	49	5	660	5	SLC17A1	6	25813193	Missense_Mutation	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08		25813193	145301874	43	91740											
DDC	1644	broad.mit.edu	37	chr7	50611652	50611652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcctgaggggcagcGgcagggatcagcggccgcag	6	5	18	12	3	2	1	1	1	1	0	3	2	3	2	2	6	2	4	2	6	0	0			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:50611652G>A	ENST00000444124.2	-	2	332	c.132C>T	c.(130-132)gcC>gcT	p.A44A	DDC_ENST00000380984.4_Silent_p.A44A|DDC_ENST00000357936.5_Silent_p.A44A|DDC_ENST00000431062.1_Silent_p.A44A|DDC_ENST00000426377.1_Silent_p.A44A	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	44					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GAGGGGCAGCGGCAGGGATCA	0.557													7	217					0	0	0	0	A	50611652	G	A	50611652	2	1	477	1	0	0	0	0	0	0	0	1	4357	1103	39	1		1	DDC	7	50611652	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		50611652	108527011	44	91741											
PIK3CG	5294	broad.mit.edu	37	chr7	106513012	106513012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaccataccatgatagcGcccttgccagatttctgctg	9	12	8	12	1	1	3	0	2	1	1	1	3	1	3	4	0	5	1	4	0	3	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:106513012G>A	ENST00000359195.3	+	3	2336	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	676					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			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						CCATGATAGCGCCCTTGCCAG	0.393													4	100					0	0	0	0	A	106513012	G	A	106513012	3	1	477	1	0	0	0	0	1	0	0	0	11988	1087	38	1	2032	1	PIK3CG	7	106513012	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	55901360	106513012	52625651	45	91742											
TRPV5	56302	broad.mit.edu	37	chr7	142622745	142622745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgtagagcaggtacaagGcagccaggatgcagaagtac	14	6	13	8	0	1	2	1	0	0	2	1	3	1	3	1	3	5	6	1	3	5	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:142622745G>A	ENST00000265310.1	-	8	1349	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	TRPV5_ENST00000442623.1_Missense_Mutation_p.A334V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	334					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGGTACAAGGCAGCCAGGAT	0.552													5	58					0	0	0	0	A	142622745	G	A	142622745	3	1	477	1	0	0	0	0	1	0	0	0	16694	1203	42	4	1220	4	TRPV5	7	142622745	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	36109733	142622745	16515918	46	91743											
ZNF786	136051	broad.mit.edu	37	chr7	148769032	148769032	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatgggtcagctcgtgtcGgaagcacatttcaccgtcag	8	9	14	10	3	3	0	3	0	0	0	5	2	3	2	1	3	2	2	1	3	1	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:148769032G>A	ENST00000316286.9	-	3	846	c.574C>T	c.(574-576)Cga>Tga	p.R192*	ZNF786_ENST00000451334.3_Nonsense_Mutation_p.R241*|ZNF786_ENST00000491431.1_Nonsense_Mutation_p.R278*			Q8N393	ZN786_HUMAN	zinc finger protein 786	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCTCGTGTCGGAAGCACATT	0.682													6	42					0	0	0	0	A	148769032	G	A	148769032	4	1	477	1	0	0	0	0	0	1	0	0	18251	1124	39	1	1520	1	ZNF786	7	148769032	Nonsense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	6146287	148769032	10369631	47	91744											
ACTR3B	57180	broad.mit.edu	37	chr7	152511678	152511678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacagagagtatcttgCagaaattatgtttgaatcat	17	12	8	4	0	2	4	1	1	1	3	2	5	2	4	0	0	2	3	0	0	6	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:152511678C>A	ENST00000256001.8	+	5	514	c.380C>A	c.(379-381)gCa>gAa	p.A127E	ACTR3B_ENST00000537264.1_Missense_Mutation_p.A39E|ACTR3B_ENST00000488782.1_3'UTR|ACTR3B_ENST00000397282.2_Missense_Mutation_p.A39E|ACTR3B_ENST00000377776.3_Missense_Mutation_p.A127E	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	127					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAGTATCTTGCAGAAATTATG	0.363													5	62					5.9392e-07	6.21416e-07	1	0	A	152511678	C	A	152511678	3	1	477	1	0	0	0	0	1	0	0	0	213	710	25	4	398	4	ACTR3B	7	152511678	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	3742646	152511678	6626985	48	91745											
RIMS2	9699	broad.mit.edu	37	chr8	104709513	104709513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggtcgagtgtcattaCgctcaaacaaggtacagaaa	14	8	12	7	2	2	1	2	0	0	1	3	3	2	2	0	3	3	2	0	3	5	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:104709513C>T	ENST00000406091.3	+	2	376	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	157	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTGTCATTACGCTCAAACAA	0.373										HNSCC(12;0.0054)			12	93					0	0	0	0	T	104709513	C	T	104709513	3	4	477	1	0	0	0	0	1	0	0	0	13453	536	19	1	382	1	RIMS2	8	104709513	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08		104709513	41654509	49	91746											
ADCY8	114	broad.mit.edu	37	chr8	132002726	132002726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctgggcccggtctgaCaggtaactgatgaagattcc	8	9	14	10	2	1	4	0	3	1	1	2	4	2	4	2	4	1	2	2	4	2	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:132002726C>T	ENST00000286355.5	-	2	3115	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	ADCY8_ENST00000377928.3_Silent_p.L341L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	341					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCGGTCTGACAGGTAACTGA	0.522										HNSCC(32;0.087)			18	224					0	0	0	0	T	132002726	C	T	132002726	2	4	477	1	0	0	0	0	0	0	0	1	300	465	17	4		4	ADCY8	8	132002726	Silent	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	27293213	132002726	14361296	50	91747											
PTP4A3	11156	broad.mit.edu	37	chr8	142432392	142432392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgagctacaaacacatgCgcttcctcatcacccacaac	13	7	6	15	1	2	1	2	1	0	0	3	1	3	1	2	1	5	2	2	1	3	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:142432392C>T	ENST00000520105.1	+	2	995	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	PTP4A3_ENST00000329397.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000521578.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000524028.1_Missense_Mutation_p.R18C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	18						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CAAACACATGCGCTTCCTCAT	0.657													26	155					0	0	0	0	T	142432392	C	T	142432392	3	4	477	1	0	0	0	0	1	0	0	0	12852	768	27	1	54	1	PTP4A3	8	142432392	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	10429666	142432392	3931630	51	91748											
CDKN2A	1029	broad.mit.edu	37	chr9	21974799	21974799	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccagtcagccgaaggctCcatgctgctccccgccgccg	6	5	11	19	4	1	0	1	0	0	0	3	1	3	0	7	1	4	3	7	1	1	0			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:21974799C>A	ENST00000304494.5	-	1	298	c.28G>T	c.(28-30)Gag>Tag	p.E10*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E10*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	10					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.P3_P11del(2)|p.0(1)|p.S7_A19del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCGAAGGCTCCATGCTGCTC	0.771		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			26	11					5.61819e-17	6.41268e-17	1	0	A	21974799	C	A	21974799	4	1	477	1	0	0	0	0	0	1	0	0	3190	864	30	2	655	2	CDKN2A	9	21974799	Nonsense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08		21974799	119238632	52	91749											
TOPORS	10210	broad.mit.edu	37	chr9	32542793	32542793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactctgtctcctcttacaGatgagttcaggtttctggga	8	15	9	9	0	5	2	1	1	4	1	6	3	5	3	1	2	2	2	1	2	2	4	rs79708790	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:32542793G>T	ENST00000360538.2	-	3	1846	c.1730C>A	c.(1729-1731)tCt>tAt	p.S577Y	TOPORS_ENST00000379858.1_Missense_Mutation_p.S512Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	577	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCCTCTTACAGATGAGTTCAG	0.378													8	92					0.000274275	0.000279217	1	0	T	32542793	G	T	32542793	3	4	477	1	0	0	0	0	1	0	0	0	16465	942	33	2	1411	2	TOPORS	9	32542793	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	10567994	32542793	108670638	53	91750											
ABCA1	19	broad.mit.edu	37	chr9	107578573	107578573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatgccctatgtcttccaCcagccgggcttcagacacat	8	10	7	16	1	3	1	2	0	1	1	4	1	4	1	4	1	2	1	4	1	1	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:107578573C>A	ENST00000374736.3	-	25	3983	c.3589G>T	c.(3589-3591)Gtg>Ttg	p.V1197L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1197					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTCTTCCACCAGCCGGGCT	0.517													6	73					1.26484e-09	1.38765e-09	1	0	A	107578573	C	A	107578573	3	1	477	1	0	0	0	0	1	0	0	0	28	507	18	4	3300	4	ABCA1	9	107578573	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	75035780	107578573	33634858	54	91751											
C8G	733	broad.mit.edu	37	chr9	139839826	139839826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcctggcagctggctcGctgggccagaagcctcagag	6	7	14	14	1	1	2	1	0	0	2	3	2	2	2	3	3	3	5	3	3	1	0			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:139839826G>A	ENST00000224181.3	+	1	114	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	18					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CAGCTGGCTCGCTGGGCCAGA	0.662											OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	0	0	A	139839826	G	A	139839826	2	1	477	1	0	0	0	0	0	0	0	1	2441	1074	38	1		1	C8G	9	139839826	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	32261253	139839826	1373605	55	91752											
BICC1	80114	broad.mit.edu	37	chr10	60546740	60546740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaacattcacatgtaatcGgcaaaggtggcaacaatatt	16	9	8	8	1	1	1	1	0	0	1	2	1	1	1	0	3	2	3	0	3	6	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:60546740G>A	ENST00000373886.3	+	5	449	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	149	KH 1.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACATGTAATCGGCAAAGGTGG	0.368													7	67					0	0	0	0	A	60546740	G	A	60546740	3	1	477	1	0	0	0	0	1	0	0	0	1432	1116	39	1	463	1	BICC1	10	60546740	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		60546740	74988007	56	91753											
ZCCHC24	219654	broad.mit.edu	37	chr10	81146100	81146100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgcgggcgggcagcccGtcactgcacgcgacggcagt	5	5	18	13	6	1	0	1	0	0	0	1	1	1	0	1	4	3	3	1	4	0	0	rs140265942		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:81146100G>A	ENST00000372333.3	-	4	598	c.548C>T	c.(547-549)aCg>aTg	p.T183M	ZCCHC24_ENST00000372336.3_3'UTR|RP11-342M3.5_ENST00000438554.2_RNA			Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	47							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CGGGCAGCCCGTCACTGCACG	0.701													3	28					0	0	0	0	A	81146100	G	A	81146100	3	1	477	1	0	0	0	0	1	0	0	0	17683	1160	40	1	2	1	ZCCHC24	10	81146100	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	20599360	81146100	54388647	57	91754											
SLK	9748	broad.mit.edu	37	chr10	105781483	105781483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagagagaaattgagacctAggaaaaaggtaattttaaaa	20	8	11	2	0	0	3	0	1	0	3	0	7	0	4	1	3	0	1	1	3	7	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:105781483A>G	ENST00000369755.3	+	18	4098	c.3553A>G	c.(3553-3555)Agg>Ggg	p.R1185G	SLK_ENST00000335753.4_Missense_Mutation_p.R1154G	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1185					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATTGAGACCTAGGAAAAAGGT	0.393													5	38					0	0	0	0	G	105781483	A	G	105781483	3	3	477	1	0	0	0	0	1	0	0	0	14836	411	15	5	3623	5	SLK	10	105781483	Missense_Mutation	SNP	A	TCGA-QK-A6IJ-01A-11D-A31L-08	24635383	105781483	29753264	58	91755											
OR5L1	219437	broad.mit.edu	37	chr11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgctacttctgtgggaCggtgtgttctctgattcatt	4	18	11	8	1	3	1	1	1	2	0	4	2	3	2	0	2	3	3	0	2	1	6	rs144467940	by1000genomes	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													15	122					0	0	0	0	T	55579400	C	T	55579400	3	4	477	1	0	0	0	0	1	0	0	0	11241	536	19	1	460	1	OR5L1	11	55579400	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08		55579400	79427116	59	91756											
OR5M11	219487	broad.mit.edu	37	chr11	56310657	56310658	+	Frame_Shift_Del	DEL	AG	AG	-																															ccagaaacagcacaaaaagcAgagactggagttccgggcaa																										TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:56310657_56310658delAG	ENST00000528616.2	-	1	99_100	c.76_77delCT	c.(76-78)gfs	p.L27fs		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACAAAAAGCAGAGACTGGAGT	0.475													7	116	---	---	---	---					-	56310658	AG	-	56310657	7	5	477	1	0	1	0	1	0	0	0	0	11245	188	7	0	843	0	OR5M11	11	56310657	Frame_Shift_Del	DEL	AG	TCGA-QK-A6IJ-01A-11D-A31L-08	731257	56310657	78695859	60	91757											
OR5M10	390167	broad.mit.edu	37	chr11	56344479	56344479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaggtgggaagcacacGtagaaaaggctttgtgcctg	10	10	14	7	1	1	1	1	0	0	1	1	2	1	2	1	3	2	3	1	3	4	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:56344479G>A	ENST00000526812.2	-	1	784	c.719C>T	c.(718-720)aCg>aTg	p.T240M		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGAAGCACACGTAGAAAAGGC	0.448													16	117					0	0	0	0	A	56344479	G	A	56344479	3	1	477	1	0	0	0	0	1	0	0	0	11244	1145	40	1	232	1	OR5M10	11	56344479	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	33822	56344479	78662037	61	91758											
SORL1	6653	broad.mit.edu	37	chr11	121414336	121414336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgtatggcctcctcacaGaacctggggagaagagcact	10	9	12	10	0	1	3	1	0	0	3	2	4	2	3	3	3	2	2	3	3	3	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:121414336G>A	ENST00000260197.7	+	13	1894	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	589					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTCCTCACAGAACCTGGGGA	0.502													14	146					0	0	0	0	A	121414336	G	A	121414336	3	1	477	1	0	0	0	0	1	0	0	0	15022	943	33	2	1815	2	SORL1	11	121414336	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	65069857	121414336	13592180	62	91759											
DDX11	1663	broad.mit.edu	37	chr12	31244771	31244771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctgatcgacaccatcaCgggcatgcacagcgtggagg	11	5	12	13	3	1	1	1	1	0	0	2	3	1	2	2	3	3	2	2	3	1	0			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:31244771C>T	ENST00000407793.2	+	10	1459	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	DDX11_ENST00000542838.1_Missense_Mutation_p.T403M|DDX11_ENST00000228264.6_Missense_Mutation_p.T377M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.T403M|DDX11_ENST00000350437.4_Missense_Mutation_p.T403M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	403	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GACACCATCACGGGCATGCAC	0.667										Multiple Myeloma(12;0.14)			11	102					0	0	0	0	T	31244771	C	T	31244771	3	4	477	1	0	0	0	0	1	0	0	0	4375	536	19	1	1242	1	DDX11	12	31244771	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08		31244771	102607124	63	91760											
KRT83	3889	broad.mit.edu	37	chr12	52710659	52710659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccttgctgcgataccagGactcggcctcagcccggcta	7	8	10	16	3	2	0	2	0	0	0	3	2	2	1	4	3	4	2	4	3	2	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:52710659G>T	ENST00000293670.3	-	5	961	c.899C>A	c.(898-900)tCc>tAc	p.S300Y		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	300	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGATACCAGGACTCGGCCTC	0.562													5	107					0.0293803	0.0293803	1	0	T	52710659	G	T	52710659	3	4	477	1	0	0	0	0	1	0	0	0	8549	1174	41	2	602	2	KRT83	12	52710659	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	21465888	52710659	81141236	64	91761											
XPOT	11260	broad.mit.edu	37	chr12	64814176	64814176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgtcaatagaagttctaCgggaagaagcatgtgactgt	14	11	11	5	1	2	3	1	1	1	2	2	4	2	4	0	1	2	2	0	1	7	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:64814176C>T	ENST00000332707.5	+	8	1247	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	240	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.R240W(3)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAAGTTCTACGGGAAGAAGC	0.328													3	47					0	0	0	0	T	64814176	C	T	64814176	3	4	477	1	0	0	0	0	1	0	0	0	17546	527	19	1	744	1	XPOT	12	64814176	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	12103517	64814176	69037719	65	91762											
LIN7A	8825	broad.mit.edu	37	chr12	81205345	81205345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggctgttcgtagcttttCaaagcgagcctccatttctt	6	15	8	12	2	2	0	1	0	1	0	4	1	3	0	3	1	3	4	3	1	2	6			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:81205345C>T	ENST00000552864.1	-	5	803	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	201					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CGTAGCTTTTCAAAGCGAGCC	0.498													10	23					0	0	0	0	T	81205345	C	T	81205345	3	4	477	1	0	0	0	0	1	0	0	0	8865	835	29	2	104	2	LIN7A	12	81205345	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	16391169	81205345	52646550	66	91763											
ALX1	8092	broad.mit.edu	37	chr12	85674213	85674213	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcggacccctgccccgCgccgagcatcacgtgcgctt	4	7	11	19	6	1	0	1	0	0	0	2	2	1	1	6	1	3	2	6	1	0	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:85674213C>T	ENST00000316824.3	+	1	329	c.174C>T	c.(172-174)cgC>cgT	p.R58R		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	58					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCCTGCCCCGCGCCGAGCATC	0.647													4	70					0	0	0	0	T	85674213	C	T	85674213	2	4	477	1	0	0	0	0	0	0	0	1	556	755	27	1		1	ALX1	12	85674213	Silent	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	4468868	85674213	48177682	67	91764											
LTA4H	4048	broad.mit.edu	37	chr12	96409361	96409361	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaactttgactcctttacCgaattctgtagttctcccca	10	15	4	12	1	2	1	0	1	2	0	4	2	3	1	4	0	2	2	4	0	5	7			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:96409361C>T	ENST00000228740.2	-	11	1200	c.1059_splice	c.e11+1	p.S353_splice	LTA4H_ENST00000413268.2_Splice_Site_p.S329_splice|LTA4H_ENST00000552789.1_Splice_Site_p.S329_splice	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	353					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						ACTCCTTTACCGAATTCTGTA	0.378											OREG0022040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	87					0	0	0	0	T	96409361	C	T	96409361	5	4	477	1	0	0	0	0	0	0	1	0	9133	666	23	1	812	1	LTA4H	12	96409361	Splice_Site	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	10735148	96409361	37442534	68	91765											
RBM19	9904	broad.mit.edu	37	chr12	114395756	114395756	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcactttcctcttcctccGaggaagaggacgacccagcc	8	9	8	16	2	2	1	1	0	1	1	5	5	5	3	5	2	1	0	5	2	1	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:114395756G>T	ENST00000545145.2	-	6	749	c.671C>A	c.(670-672)tCg>tAg	p.S224*	RBM19_ENST00000261741.5_Nonsense_Mutation_p.S224*|RBM19_ENST00000392561.3_Nonsense_Mutation_p.S224*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	224					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCTTCCTCCGAGGAAGAGGA	0.557													11	83					2.80697e-09	3.04989e-09	1	0	T	114395756	G	T	114395756	4	4	477	1	0	0	0	0	0	1	0	0	13203	1059	37	3	2287	3	RBM19	12	114395756	Nonsense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	17986395	114395756	19456139	69	91766											
SACS	26278	broad.mit.edu	37	chr13	23909221	23909221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagaaccagggaaataccGtttttttaactgtattagca	14	13	7	7	1	1	1	1	0	0	1	1	2	1	2	2	1	4	3	2	1	6	7			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr13:23909221G>A	ENST00000382298.3	-	10	9382	c.8794C>T	c.(8794-8796)Cgg>Tgg	p.R2932W	SACS_ENST00000402364.1_Missense_Mutation_p.R2182W|SACS_ENST00000382292.3_Missense_Mutation_p.R2932W	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2932					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGAAATACCGTTTTTTTAAC	0.353													4	96					0	0	0	0	A	23909221	G	A	23909221	3	1	477	1	0	0	0	0	1	0	0	0	13889	1144	40	1	4949	1	SACS	13	23909221	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		23909221	91260657	70	91767											
NFATC4	4776	broad.mit.edu	37	chr14	24845708	24845708	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccccagacggggcccccAccatcctacagaccgggcct	8	4	9	20	2	0	2	0	0	0	2	1	2	1	2	8	3	2	0	8	3	2	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr14:24845708A>G	ENST00000413692.2	+	10	2598	c.2454A>G	c.(2452-2454)ccA>ccG	p.P818P	NFATC4_ENST00000424781.2_Silent_p.P768P|NFATC4_ENST00000556279.1_Silent_p.P787P|NFATC4_ENST00000554473.1_Silent_p.P290P|NFATC4_ENST00000554050.1_Silent_p.P755P|NFATC4_ENST00000554591.1_Silent_p.P818P|NFATC4_ENST00000556759.1_Silent_p.P290P|NFATC4_ENST00000557451.1_Silent_p.P685P|NFATC4_ENST00000553879.1_Silent_p.P685P|NFATC4_ENST00000554344.1_Silent_p.P685P|NFATC4_ENST00000556169.1_Silent_p.P743P|NFATC4_ENST00000250373.4_Silent_p.P755P|NFATC4_ENST00000555453.1_Silent_p.P743P|NFATC4_ENST00000555590.1_Silent_p.P768P|NFATC4_ENST00000557767.1_Silent_p.P43P|NFATC4_ENST00000555802.1_Silent_p.P43P|NFATC4_ENST00000554661.1_Silent_p.P685P|NFATC4_ENST00000553469.1_Silent_p.P787P|NFATC4_ENST00000554966.1_Silent_p.P768P|NFATC4_ENST00000422617.3_Silent_p.P743P|NFATC4_ENST00000553708.1_Silent_p.P755P|NFATC4_ENST00000555393.1_Silent_p.P43P|NFATC4_ENST00000539237.2_Silent_p.P787P|NFATC4_ENST00000555167.1_Silent_p.P290P	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	755	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGGGCCCCCACCATCCTACA	0.607													4	60					0	0	0	0	G	24845708	A	G	24845708	2	3	477	1	0	0	0	0	0	0	0	1	10435	146	6	5		5	NFATC4	14	24845708	Silent	SNP	A	TCGA-QK-A6IJ-01A-11D-A31L-08		24845708	82503832	71	91768											
SIPA1L1	26037	broad.mit.edu	37	chr14	72176267	72176267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagccacggcctggaccGgaaaacagagtcttccctga	12	5	12	12	2	1	3	0	1	1	2	2	6	2	5	4	3	2	0	4	3	2	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr14:72176267G>A	ENST00000555818.1	+	15	4505	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R840Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1365Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1365Q|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1386	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGCCTGGACCGGAAAACAGAG	0.552													10	39					0	0	0	0	A	72176267	G	A	72176267	3	1	477	1	0	0	0	0	1	0	0	0	14417	1116	39	1	4211	1	SIPA1L1	14	72176267	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	47330559	72176267	35173273	72	91769											
BUB1B	701	broad.mit.edu	37	chr15	40468799	40468799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctagagaaaactttaGgaaagcagatgcgatatttc	16	10	10	5	1	0	3	0	1	0	2	1	6	0	4	0	1	4	2	0	1	7	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr15:40468799G>A	ENST00000287598.6	+	5	701	c.506G>A	c.(505-507)aGg>aAg	p.R169K	BUB1B_ENST00000412359.3_Missense_Mutation_p.R183K|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	169	BUB1 N-terminal.|Necessary for interaction with CASC5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GAAAACTTTAGGAAAGCAGAT	0.418			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				7	67					0	0	0	0	A	40468799	G	A	40468799	3	1	477	1	0	0	0	0	1	0	0	0	1580	1000	35	4	524	4	BUB1B	15	40468799	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		40468799	62062593	73	91770											
DUOX2	50506	broad.mit.edu	37	chr15	45387290	45387290	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacccagatgaagtagatCtggggacacagggctggaga	12	6	15	8	0	2	4	1	1	1	3	2	6	2	5	1	4	0	2	1	4	2	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr15:45387290C>A	ENST00000389039.6	-	32	4625		c.e32-1		DUOX2_ENST00000603300.1_Splice_Site			Q9NRD8	DUOX2_HUMAN	dual oxidase 2						cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGAAGTAGATCTGGGGACACA	0.597													4	32					0.014758	0.0148898	1	0	A	45387290	C	A	45387290	5	1	477	1	0	0	0	0	0	0	1	0	4837	927	32	2	419	2	DUOX2	15	45387290	Splice_Site	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	4918491	45387290	57144102	74	91771											
CREBBP	1387	broad.mit.edu	37	chr16	3789597	3789597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtgtttggaggggggCaatcagagccgtattcttgg	7	11	15	8	2	2	1	1	0	1	1	3	2	2	2	2	5	1	3	2	5	2	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:3789597C>A	ENST00000262367.5	-	25	5071	c.4262G>T	c.(4261-4263)tGc>tTc	p.C1421F	CREBBP_ENST00000382070.3_Missense_Mutation_p.C1383F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1421	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.C1421Y(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGAGGGGGGCAATCAGAGCC	0.502			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						11	44					1.61879e-10	1.79337e-10	1	0	A	3789597	C	A	3789597	3	1	477	1	0	0	0	0	1	0	0	0	3891	710	25	4	3094	4	CREBBP	16	3789597	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08		3789597	86565156	75	91772											
SBK1	388228	broad.mit.edu	37	chr16	28328881	28328881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcactacgaactagtcCgggagctgggcaaaggcacc	12	4	12	13	2	0	0	0	0	0	0	1	2	1	1	3	3	4	4	3	3	5	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:28328881C>T	ENST00000341901.4	+	2	958	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	57	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CGAACTAGTCCGGGAGCTGGG	0.627											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	81					0	0	0	0	T	28328881	C	T	28328881	3	4	477	1	0	0	0	0	1	0	0	0	13946	643	23	1	171	1	SBK1	16	28328881	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	24539284	28328881	62025872	76	91773											
SBK1	388228	broad.mit.edu	37	chr16	28330378	28330378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctgaagaacttcctacggGaggtgagcatcaccaacagc	13	6	11	11	1	1	3	1	2	0	1	2	4	2	4	2	2	6	2	2	2	4	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:28330378G>A	ENST00000341901.4	+	3	1078	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	97	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CTTCCTACGGGAGGTGAGCAT	0.512													37	145					0	0	0	0	A	28330378	G	A	28330378	3	1	477	1	0	0	0	0	1	0	0	0	13946	1175	41	2	295	2	SBK1	16	28330378	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	1497	28330378	62024375	77	91774											
RBL2	5934	broad.mit.edu	37	chr16	53496504	53496504	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttttgcggagatgctttaCtataaagtattagaatctgt	11	16	9	5	2	1	2	0	0	1	2	1	3	1	2	0	1	3	3	0	1	7	8			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:53496504C>G	ENST00000262133.6	+	11	1634	c.1497C>G	c.(1495-1497)taC>taG	p.Y499*	RBL2_ENST00000544545.1_Nonsense_Mutation_p.Y283*|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	499	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGATGCTTTACTATAAAGTAT	0.333													14	35					0	0	0	0	G	53496504	C	G	53496504	4	3	477	1	0	0	0	0	0	1	0	0	13192	576	20	4	1539	4	RBL2	16	53496504	Nonsense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	25166126	53496504	36858249	78	91775											
TP53	7157	broad.mit.edu	37	chr17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	GG																															atctgagcagcgctcatggtINSgggggcagcgcctcacaacc																								rs68130327		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:7578397_7578398insGG	ENST00000420246.2	-	5	664_665	c.532_533insCC	c.(532-534)ccafs	p.P178fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCGCTCATGGTGGGGGCAGCGC	0.644		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)			33	41	---	---	---	---					GG	7578398	-	GG	7578397	7	5	477	1	0	1	1	0	0	0	0	0	16476	1696	59	0	765	0	TP53	17	7578397	Frame_Shift_Ins	INS	-	TCGA-QK-A6IJ-01A-11D-A31L-08		7578397	73616813	79	91776											
ACACA	31	broad.mit.edu	37	chr17	35470193	35470193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacttcagcacttggtcGtacatatctatggagaatga	13	11	8	9	1	2	2	1	1	1	1	3	3	2	2	1	2	3	2	1	2	5	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:35470193G>A	ENST00000353139.5	-	51	6763	c.6282C>T	c.(6280-6282)taC>taT	p.Y2094Y	ACACA_ENST00000360679.3_Silent_p.Y1999Y|ACACA_ENST00000335166.5_Silent_p.Y1979Y|ACACA_ENST00000361253.5_Silent_p.Y183Y|ACACA_ENST00000394406.2_Silent_p.Y2057Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2057	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCACTTGGTCGTACATATCTA	0.478													4	36					0	0	0	0	A	35470193	G	A	35470193	2	1	477	1	0	0	0	0	0	0	0	1	106	1140	40	1		1	ACACA	17	35470193	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	27891796	35470193	45725017	80	91777											
KRT9	3857	broad.mit.edu	37	chr17	39725792	39725792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccaggagcaacgtttatCtccacattgacatctccact	10	12	6	13	1	2	1	0	1	2	0	4	2	2	2	3	1	3	2	3	1	2	4			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:39725792C>T	ENST00000246662.4	-	4	995	c.930G>A	c.(928-930)gaG>gaA	p.E310E	KRT9_ENST00000588431.1_Silent_p.E77E	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	310	Linker 12.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CAACGTTTATCTCCACATTGA	0.502													27	39					0	0	0	0	T	39725792	C	T	39725792	2	4	477	1	0	0	0	0	0	0	0	1	8553	912	32	2		2	KRT9	17	39725792	Silent	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	4255599	39725792	41469418	81	91778											
KCNH6	81033	broad.mit.edu	37	chr17	61615533	61615533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtcaaggagttcatcCgcttccaccagatccccaac	9	9	8	15	2	2	1	2	0	0	1	5	2	5	2	5	1	2	2	5	1	2	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:61615533C>G	ENST00000583023.1	+	7	1620	c.1609C>G	c.(1609-1611)Cgc>Ggc	p.R537G	KCNH6_ENST00000456941.2_Missense_Mutation_p.R484G|KCNH6_ENST00000314672.5_Missense_Mutation_p.R537G|KCNH6_ENST00000581784.1_Missense_Mutation_p.R484G	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	537					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGAGTTCATCCGCTTCCACCA	0.617													9	79					0	0	0	0	G	61615533	C	G	61615533	3	3	477	1	0	0	0	0	1	0	0	0	8089	652	23	3	1635	3	KCNH6	17	61615533	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	21889741	61615533	19579677	82	91779											
CCDC47	57003	broad.mit.edu	37	chr17	61829712	61829712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggaactttttggctttatCaatagaataaatcaccatgt	13	15	6	7	1	2	1	2	0	0	1	3	2	2	2	1	2	1	1	1	2	7	6			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:61829712C>G	ENST00000225726.5	-	11	1553	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	CCDC47_ENST00000582252.1_Missense_Mutation_p.D391H|CCDC47_ENST00000403162.3_Missense_Mutation_p.D391H	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	391						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TTGGCTTTATCAATAGAATAA	0.428													5	62					0	0	0	0	G	61829712	C	G	61829712	3	3	477	1	0	0	0	0	1	0	0	0	2845	826	29	2	292	2	CCDC47	17	61829712	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	214179	61829712	19365498	83	91780											
FDXR	2232	broad.mit.edu	37	chr17	72859026	72859026	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccccgggccacctcctcGgcatccagcttctcccagtc	4	8	9	20	2	1	0	0	0	1	0	6	0	3	0	7	3	1	2	7	3	0	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:72859026G>C	ENST00000442102.2	-	12	1604	c.1518C>G	c.(1516-1518)gcC>gcG	p.A506A	FDXR_ENST00000581530.1_Silent_p.A469A|FDXR_ENST00000293195.5_Silent_p.A463A|FDXR_ENST00000583917.1_Silent_p.A435A|FDXR_ENST00000582944.1_Silent_p.A455A|FDXR_ENST00000544854.1_Silent_p.A411A|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000420580.2_Silent_p.A423A|FDXR_ENST00000413947.2_Silent_p.A494A	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	463					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCTCCTCGGCATCCAGCT	0.657													6	84					0	0	0	0	C	72859026	G	C	72859026	2	2	477	1	0	0	0	0	0	0	0	1	5852	1103	39	3		3	FDXR	17	72859026	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	11029314	72859026	8336184	84	91781											
AZI1	22994	broad.mit.edu	37	chr17	79163626	79163626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcctccaggtggtcGgcccgcttcaccgcagcctg	5	7	12	17	3	1	0	1	0	0	0	4	0	3	0	5	3	3	4	5	3	0	1			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:79163626G>A	ENST00000269392.4	-	26	3442	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	AZI1_ENST00000450824.2_Silent_p.A1062A|AZI1_ENST00000374782.3_Silent_p.A1026A|AZI1_ENST00000575907.1_Silent_p.A1029A	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	1065					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGTGGTCGGCCCGCTTCA	0.652													14	185					0	0	0	0	A	79163626	G	A	79163626	2	1	477	1	0	0	0	0	0	0	0	1	1244	1103	39	1		1	AZI1	17	79163626	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	6304600	79163626	2031584	85	91782											
MC4R	4160	broad.mit.edu	37	chr18	58039415	58039415	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattctccaacaagctgatGacacccagagtcacaaacac	16	7	5	13	0	2	3	1	2	1	1	3	3	2	3	2	0	3	1	2	0	4	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:58039415G>T	ENST00000299766.3	-	1	586	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	56					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ACAAGCTGATGACACCCAGAG	0.473													12	70					4.3838e-07	4.62962e-07	1	0	T	58039415	G	T	58039415	2	4	477	1	0	0	0	0	0	0	0	1	9435	1277	45	2		2	MC4R	18	58039415	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		58039415	20037833	86	91783											
CLEC4M	10332	broad.mit.edu	37	chr19	7831670	7831670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgagggcccagctcgtcGtaatcaaaactgctgaggag	12	7	13	9	2	1	2	1	2	0	0	3	3	1	3	1	2	3	3	1	2	4	1	rs150860249		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:7831670G>A	ENST00000327325.5	+	5	1031	c.913G>A	c.(913-915)Gta>Ata	p.V305I	CLEC4M_ENST00000359059.5_Missense_Mutation_p.V238I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.V283I|CLEC4M_ENST00000357361.2_Missense_Mutation_p.V305I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.V254I|CLEC4M_ENST00000394122.2_Missense_Mutation_p.V293I|CLEC4M_ENST00000595496.1_Missense_Mutation_p.V169I|CLEC4M_ENST00000597522.1_Missense_Mutation_p.V213I|CLEC4M_ENST00000596707.1_Missense_Mutation_p.V238I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.V277I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	305	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CCAGCTCGTCGTAATCAAAAC	0.587													4	87					0	0	0	0	A	7831670	G	A	7831670	3	1	477	1	0	0	0	0	1	0	0	0	3548	1145	40	1	952	1	CLEC4M	19	7831670	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		7831670	51297313	87	91784											
CYP2B6	1555	broad.mit.edu	37	chr19	41497219	41497219	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccaggaccatggaactCagcgtcctcctcttccttgc	8	9	8	16	1	2	1	1	0	1	1	5	3	5	3	5	2	3	0	5	2	1	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:41497219C>A	ENST00000324071.4	+	1	16	c.9C>A	c.(7-9)ctC>ctA	p.L3L		NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	3					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCATGGAACTCAGCGTCCTCC	0.592													28	133					8.24728e-16	9.31943e-16	1	0	A	41497219	C	A	41497219	2	1	477	1	0	0	0	0	0	0	0	1	4196	813	29	2		2	CYP2B6	19	41497219	Silent	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	33665549	41497219	17631764	88	91785											
BCL3	602	broad.mit.edu	37	chr19	45254511	45254511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcctttgtaccccactcGggccatgggctccccgtttc	4	11	9	17	2	0	0	0	0	0	0	3	0	1	0	6	2	2	3	6	2	1	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:45254511G>T	ENST00000164227.5	+	2	528	c.284G>T	c.(283-285)cGg>cTg	p.R95L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	95	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TACCCCACTCGGGCCATGGGC	0.607			T	IGH@	CLL								11	89					1.08611e-07	1.15783e-07	1	0	T	45254511	G	T	45254511	3	4	477	1	0	0	0	0	1	0	0	0	1379	1116	39	3	290	3	BCL3	19	45254511	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	3757292	45254511	13874472	89	91786											
VN1R4	317703	broad.mit.edu	37	chr19	53770752	53770752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactcctttacagcggagaGctaagaagttggctacaatc	12	9	11	9	1	0	2	0	0	0	2	2	4	1	3	1	3	4	3	1	3	5	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:53770752G>C	ENST00000311170.4	-	1	220	c.167C>G	c.(166-168)gCt>gGt	p.A56G		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	56					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACAGCGGAGAGCTAAGAAGTT	0.438										HNSCC(26;0.072)			7	42					0	0	0	0	C	53770752	G	C	53770752	3	2	477	1	0	0	0	0	1	0	0	0	17276	971	34	4	741	4	VN1R4	19	53770752	Missense_Mutation	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	8516241	53770752	5358231	90	91787											
GGTLC1	92086	broad.mit.edu	37	chr20	23966523	23966523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggccatggtgatctgCgtgcccccggcagctcccac	5	7	13	16	2	1	1	0	1	1	0	2	1	2	1	4	3	3	3	4	3	0	0	rs3865760		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:23966523C>T	ENST00000335694.4	-	4	597	c.393G>A	c.(391-393)acG>acA	p.T131T	GGTLC1_ENST00000286890.4_Silent_p.T131T|GGTLC1_ENST00000278765.4_Silent_p.T131T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	131							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGGTGATCTGCGTGCCCCCGG	0.652													28	146					0	0	0	0	T	23966523	C	T	23966523	2	4	477	1	0	0	0	0	0	0	0	1	6416	755	27	1		1	GGTLC1	20	23966523	Silent	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08		23966523	39058997	91	91788											
GDF5	8200	broad.mit.edu	37	chr20	34025503	34025504	+	Frame_Shift_Ins	INS	-	-	C																															cctggcattggcattggtggINScccccccaccatagctgtga																										TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:34025503_34025504insC	ENST00000374372.1	-	3	708_709	c.205_206insG	c.(205-207)cacfs	p.H69fs	GDF5_ENST00000374369.3_Frame_Shift_Ins_p.H69fs			P43026	GDF5_HUMAN	growth differentiation factor 5	69					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGCATTGGTGGCCCCCCCACCA	0.663													53	25	---	---	---	---					C	34025504	-	C	34025503	7	5	477	1	0	1	1	0	0	0	0	0	6367	1203	42	0	1307	0	GDF5	20	34025503	Frame_Shift_Ins	INS	-	TCGA-QK-A6IJ-01A-11D-A31L-08	10058980	34025503	29000017	92	91789											
CHD6	84181	broad.mit.edu	37	chr20	40041963	40041963	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtaccaacaaacacttaCtgccccaaagccaggaactt	15	6	6	14	0	0	0	0	0	0	0	0	1	0	1	4	1	7	2	4	1	6	3			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:40041963C>G	ENST00000373233.3	-	35	7309		c.e35+1		CHD6_ENST00000480022.1_Splice_Site	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAACACTTACTGCCCCAAAG	0.502													10	95					0	0	0	0	G	40041963	C	G	40041963	5	3	477	1	0	0	0	0	0	0	1	0	3358	579	20	4	1027	4	CHD6	20	40041963	Splice_Site	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	6016460	40041963	22983557	93	91790											
SERPIND1	3053	broad.mit.edu	37	chr22	21134193	21134193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtatgaaatcacgaccaTtcataatctcttccgtaagc	14	11	5	11	2	3	1	2	1	1	0	5	2	4	1	2	0	1	2	2	0	5	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr22:21134193T>C	ENST00000215727.5	+	2	876	c.593T>C	c.(592-594)aTt>aCt	p.I198T	SERPIND1_ENST00000406799.1_Missense_Mutation_p.I198T|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	198	Glycosaminoglycan-binding site.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ATCACGACCATTCATAATCTC	0.428													9	91					0	0	0	0	C	21134193	T	C	21134193	3	2	477	1	0	0	0	0	1	0	0	0	14197	1493	52	5	595	5	SERPIND1	22	21134193	Missense_Mutation	SNP	T	TCGA-QK-A6IJ-01A-11D-A31L-08		21134193	30170373	94	91791											
SSTR3	6753	broad.mit.edu	37	chr22	37603255	37603255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggccgccgccggctcGggccactgcatgtggcaggt	4	5	16	16	5	0	0	0	0	0	0	1	0	0	0	5	5	1	3	5	5	0	0			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr22:37603255G>A	ENST00000328544.3	-	2	1121	c.588C>T	c.(586-588)ccC>ccT	p.P196P	SSTR3_ENST00000402501.1_Silent_p.P196P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	196					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CCGCCGGCTCGGGCCACTGCA	0.692													4	11					0	0	0	0	A	37603255	G	A	37603255	2	1	477	1	0	0	0	0	0	0	0	1	15289	1103	39	1		1	SSTR3	22	37603255	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08	16469062	37603255	13701311	95	91792											
BMX	660	broad.mit.edu	37	chrX	15568081	15568081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccggccccacctggcatcGgacaccatctaccagatcat	10	7	7	17	2	2	1	1	0	1	1	3	2	2	2	6	3	2	1	6	3	2	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:15568081G>A	ENST00000357607.2	+	18	2102	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S	BMX_ENST00000348343.6_Silent_p.S638S|BMX_ENST00000342014.6_Silent_p.S638S			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	638	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACCTGGCATCGGACACCATCT	0.577													19	104					0	0	0	0	A	15568081	G	A	15568081	2	1	477	1	0	0	0	0	0	0	0	1	1478	1103	39	1		1	BMX	23	15568081	Silent	SNP	G	TCGA-QK-A6IJ-01A-11D-A31L-08		15568081	139702479	96	91793											
ENOX2	10495	broad.mit.edu	37	chrX	129761945	129761945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catataccttattatcaagaCggtgcaagtaggaacagatg	15	10	9	7	1	1	2	1	0	0	2	1	3	1	3	1	2	3	2	1	2	8	5			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:129761945C>T	ENST00000338144.3	-	15	2105	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	ENOX2_ENST00000394363.1_Missense_Mutation_p.R534H|ENOX2_ENST00000370927.1_Missense_Mutation_p.R563H|ENOX2_ENST00000370935.1_Missense_Mutation_p.R534H	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	563					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATTATCAAGACGGTGCAAGTA	0.433													21	153					0	0	0	0	T	129761945	C	T	129761945	3	4	477	1	0	0	0	0	1	0	0	0	5165	536	19	1	152	1	ENOX2	23	129761945	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	114193864	129761945	25508615	97	91794											
IL9R	3581	broad.mit.edu	37	chrX	155239601	155239601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacttgtggcccagcgCgtccttggaaatctgtggcc	5	11	12	13	2	2	0	1	0	1	0	3	1	3	1	3	3	2	1	3	3	1	2			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:155239601C>T	ENST00000424344.3	+	10	1397	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.R365C			Q01113	IL9R_HUMAN	interleukin 9 receptor	365					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGCCCAGCGCGTCCTTGGAA	0.662													9	152					0	0	0	0	T	155239601	C	T	155239601	3	4	477	1	0	0	0	0	1	0	0	0	7761	768	27	1	1127	1	IL9R	23	155239601	Missense_Mutation	SNP	C	TCGA-QK-A6IJ-01A-11D-A31L-08	25477656	155239601	30959	98	91795											
BAI2	576	broad.mit.edu	37	chr1	32205187	32205187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggccccgcatggggaaCgtgatgtcactggacacagc	8	5	15	13	4	1	1	1	1	0	0	1	3	1	3	2	5	2	1	2	5	1	0			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:32205187C>T	ENST00000373658.3	-	15	2558	c.2217G>A	c.(2215-2217)acG>acA	p.T739T	BAI2_ENST00000257070.4_Silent_p.T739T|BAI2_ENST00000527361.1_Silent_p.T739T|BAI2_ENST00000373655.2_Silent_p.T739T|BAI2_ENST00000440175.2_Silent_p.T381T|BAI2_ENST00000398538.1_Silent_p.T727T|BAI2_ENST00000398542.1_Silent_p.T672T|BAI2_ENST00000398547.1_Silent_p.T672T|BAI2_ENST00000398556.3_Silent_p.T687T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	739					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCATGGGGAACGTGATGTCAC	0.632													7	47					0	0	0	0	T	32205187	C	T	32205187	2	4	478	1	0	0	0	0	0	0	0	1	1303	523	19	1		1	BAI2	1	32205187	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		32205187	217045434	1	91796											
CAP1	10487	broad.mit.edu	37	chr1	40536136	40536136	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcctggtattcgatgaCgtggtgggcattgtggagat	6	13	16	6	2	0	2	0	1	0	1	1	4	0	2	1	5	0	2	1	5	1	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:40536136C>T	ENST00000372797.3	+	11	1713	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372798.1_Silent_p.D383D|CAP1_ENST00000372802.1_Silent_p.D383D|CAP1_ENST00000372792.2_Silent_p.D384D|CAP1_ENST00000372805.3_Silent_p.D384D|CAP1_ENST00000340450.3_Silent_p.D383D	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	384	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATTCGATGACGTGGTGGGCA	0.383													23	80					0	0	0	0	T	40536136	C	T	40536136	2	4	478	1	0	0	0	0	0	0	0	1	2644	535	19	1		1	CAP1	1	40536136	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	8330949	40536136	208714485	2	91797											
RLF	6018	broad.mit.edu	37	chr1	40701720	40701720	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaatgcaccggttccaaAttctcttcgatgtgagctct	11	12	8	10	2	2	2	0	1	2	1	5	3	3	2	2	1	2	3	2	1	3	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:40701720A>C	ENST00000372771.4	+	8	1373	c.1346A>C	c.(1345-1347)aAt>aCt	p.N449T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	449					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCGGTTCCAAATTCTCTTCGA	0.373													79	144					0	0	0	0	C	40701720	A	C	40701720	3	2	478	1	0	0	0	0	1	0	0	0	13474	101	4	5	1376	5	RLF	1	40701720	Missense_Mutation	SNP	A	TCGA-QK-A6V9-01A-11D-A34J-08	165584	40701720	208548901	3	91798											
SYDE2	84144	broad.mit.edu	37	chr1	85655743	85655743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatatgatcatttttacctgCaaaaggagatttcaacatgg	14	14	7	6	0	2	2	2	1	0	1	2	3	2	2	1	2	3	1	1	2	6	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:85655743C>A	ENST00000341460.5	-	2	1487	c.1438G>T	c.(1438-1440)Gca>Tca	p.A480S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	480					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.A402S(1)|p.A480S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTTTTACCTGCAAAAGGAGAT	0.328													44	108					6.17242e-35	6.56167e-35	1	0	A	85655743	C	A	85655743	3	1	478	1	0	0	0	0	1	0	0	0	15527	710	25	4	2170	4	SYDE2	1	85655743	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	44954023	85655743	163594878	4	91799											
HS2ST1	9653	broad.mit.edu	37	chr1	87563592	87563592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctggcttcaaatcccgttCttctgtggccatagctccga	6	13	8	14	2	4	0	1	0	3	0	6	1	6	0	3	2	1	3	3	2	2	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:87563592C>G	ENST00000370550.5	+	5	1023	c.660C>G	c.(658-660)ttC>ttG	p.F220L	HS2ST1_ENST00000370551.4_Missense_Mutation_p.F220L|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F194L|HS2ST1_ENST00000356813.4_Missense_Mutation_p.F194L	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	220						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAATCCCGTTCTTCTGTGGCC	0.448													26	73					0	0	0	0	G	87563592	C	G	87563592	3	3	478	1	0	0	0	0	1	0	0	0	7412	912	32	2	678	2	HS2ST1	1	87563592	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	1907849	87563592	161687029	5	91800											
ZNF326	284695	broad.mit.edu	37	chr1	90473298	90473298	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcaacaggcagaggcCgaggccgaggagtaagtaca	14	3	14	10	2	1	1	1	0	0	1	1	5	1	2	3	4	2	3	3	4	3	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:90473298C>T	ENST00000340281.4	+	5	747	c.604C>T	c.(604-606)Cga>Tga	p.R202*	ZNF326_ENST00000370447.2_Nonsense_Mutation_p.R113*|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	202	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGGCAGAGGCCGAGGCCGAGG	0.448													19	83					0	0	0	0	T	90473298	C	T	90473298	4	4	478	1	0	0	0	0	0	1	0	0	17941	644	23	1	626	1	ZNF326	1	90473298	Nonsense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	2909706	90473298	158777323	6	91801											
CELSR2	1952	broad.mit.edu	37	chr1	109794501	109794501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccagtgtcagcgtgactgtCctggatgtcaacgacaacaa	11	8	11	11	2	2	1	2	1	0	0	3	3	3	2	2	1	3	0	2	1	3	0			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:109794501C>T	ENST00000271332.3	+	1	1861	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	600	Cadherin 4.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCGTGACTGTCCTGGATGTCA	0.557													18	65					0	0	0	0	T	109794501	C	T	109794501	2	4	478	1	0	0	0	0	0	0	0	1	3251	842	30	2		2	CELSR2	1	109794501	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	19321203	109794501	139456120	7	91802											
IGSF3	3321	broad.mit.edu	37	chr1	117127584	117127584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagctgggaggttatgctgGtgcggttgagaaccacacac	9	9	15	8	1	0	2	0	2	0	1	0	4	0	3	1	4	4	4	1	4	2	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:117127584G>T	ENST00000369486.3	-	9	3296	c.2531C>A	c.(2530-2532)aCc>aAc	p.T844N	IGSF3_ENST00000369483.1_Missense_Mutation_p.T864N|IGSF3_ENST00000318837.6_Missense_Mutation_p.T864N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	844	Ig-like C2-type 7.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTTATGCTGGTGCGGTTGAG	0.612													14	47					3.27435e-08	3.33081e-08	1	0	T	117127584	G	T	117127584	3	4	478	1	0	0	0	0	1	0	0	0	7654	1261	44	4	1065	4	IGSF3	1	117127584	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	7333083	117127584	132123037	8	91803											
FCRL3	115352	broad.mit.edu	37	chr1	157668357	157668357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcatatgagagccacttTttctcctttgaaggctgtgg	7	14	11	9	0	1	2	0	2	1	1	2	3	1	2	2	2	2	3	2	2	2	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:157668357T>C	ENST00000368184.3	-	4	406	c.115A>G	c.(115-117)Aaa>Gaa	p.K39E	FCRL3_ENST00000368186.5_Missense_Mutation_p.K39E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	39	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGAGCCACTTTTTCTCCTTTG	0.453													12	93					0	0	0	0	C	157668357	T	C	157668357	3	2	478	1	0	0	0	0	1	0	0	0	5841	1850	64	5	2137	5	FCRL3	1	157668357	Missense_Mutation	SNP	T	TCGA-QK-A6V9-01A-11D-A34J-08	40540773	157668357	91582264	9	91804											
ASPM	259266	broad.mit.edu	37	chr1	197070003	197070003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttataccactcttgaatcAtaacaccttcactttgaaca	13	14	2	12	0	3	2	2	2	1	0	3	2	3	2	2	0	3	0	2	0	5	7			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:197070003A>G	ENST00000367409.4	-	18	8634	c.8378T>C	c.(8377-8379)aTg>aCg	p.M2793T	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2793					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCTTGAATCATAACACCTTC	0.393													53	124					0	0	0	0	G	197070003	A	G	197070003	3	3	478	1	0	0	0	0	1	0	0	0	1060	217	8	5	2099	5	ASPM	1	197070003	Missense_Mutation	SNP	A	TCGA-QK-A6V9-01A-11D-A34J-08	39401646	197070003	52180618	10	91805											
THNSL2	55258	broad.mit.edu	37	chr2	88478395	88478395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatctgatgagcctgaattCgatcaactggtcccgggtcc	9	10	10	12	2	2	3	1	3	1	0	5	4	4	3	3	2	2	0	3	2	3	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:88478395C>T	ENST00000324166.5	+	4	2356	c.665C>T	c.(664-666)tCg>tTg	p.S222L	THNSL2_ENST00000449349.1_Missense_Mutation_p.S190L|THNSL2_ENST00000358591.2_Missense_Mutation_p.S222L|THNSL2_ENST00000377254.3_Missense_Mutation_p.S222L|THNSL2_ENST00000343544.4_Missense_Mutation_p.S222L|THNSL2_ENST00000402102.1_Missense_Mutation_p.S222L|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	222					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCTGAATTCGATCAACTGG	0.537													62	173					0	0	0	0	T	88478395	C	T	88478395	3	4	478	1	0	0	0	0	1	0	0	0	15957	893	31	1	679	1	THNSL2	2	88478395	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		88478395	154720978	11	91806											
CYP27C1	339761	broad.mit.edu	37	chr2	127953055	127953055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgccaggaggtacacaGtccaagacaaggtgaaggac	13	5	13	10	0	0	2	0	1	0	1	1	4	1	4	3	4	2	1	3	4	4	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:127953055G>A	ENST00000335247.7	-	5	705	c.575C>T	c.(574-576)aCt>aTt	p.T192I	CYP27C1_ENST00000409327.1_Missense_Mutation_p.T192I	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	192						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GAGGTACACAGTCCAAGACAA	0.537													14	43					0	0	0	0	A	127953055	G	A	127953055	3	1	478	1	0	0	0	0	1	0	0	0	4192	1029	36	4	559	4	CYP27C1	2	127953055	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	39474660	127953055	115246318	12	91807											
PRPF40A	55660	broad.mit.edu	37	chr2	153533991	153533991	+	Splice_Site	DEL	T	T	-																															tcttcagctttgatcattgcTattaaagagagaaaaaaagt																										TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:153533991delT	ENST00000410080.1	-	9	1173		c.e9-2			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGATCATTGCTATTAAAGAGA	0.269													2	4	---	---	---	---					-	153533991	T	-	153533991	8	5	478	1	0	1	0	1	0	0	1	0	12651	1536	53	0	2234	0	PRPF40A	2	153533991	Splice_Site	DEL	T	TCGA-QK-A6V9-01A-11D-A34J-08	25580936	153533991	89665382	13	91808											
CYTIP	9595	broad.mit.edu	37	chr2	158272257	158272257	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatttcaagagttgctttcGgacacttccctttctgctct	8	16	6	11	1	3	1	1	0	2	1	5	2	4	2	1	1	2	3	1	1	2	5			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:158272257G>A	ENST00000264192.3	-	8	1133	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	CYTIP_ENST00000540637.1_Nonsense_Mutation_p.R232*	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	338					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGTTGCTTTCGGACACTTCCC	0.488													7	77					0	0	0	0	A	158272257	G	A	158272257	4	1	478	1	0	0	0	0	0	1	0	0	4239	1124	39	1	71	1	CYTIP	2	158272257	Nonsense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	4738266	158272257	84927116	14	91809											
EPHA4	2043	broad.mit.edu	37	chr2	222294821	222294821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggtggagcgcaatgggGcagtccattggagggggtaa	9	7	19	6	1	0	0	0	0	0	0	1	2	1	2	1	7	2	4	1	7	2	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:222294821G>A	ENST00000281821.2	-	15	2588	c.2547C>T	c.(2545-2547)tgC>tgT	p.C849C	EPHA4_ENST00000409938.1_Silent_p.C849C|EPHA4_ENST00000409854.1_Silent_p.C849C|EPHA4_ENST00000392071.4_Silent_p.C798C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	849	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCGCAATGGGGCAGTCCATTG	0.512													4	109					0	0	0	0	A	222294821	G	A	222294821	2	1	478	1	0	0	0	0	0	0	0	1	5207	1195	42	4		4	EPHA4	2	222294821	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	64022564	222294821	20904552	15	91810											
CLASP2	23122	broad.mit.edu	37	chr3	33592770	33592770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatcagaacttttgggttCtgttgtccaagtgatgaccc	10	13	9	9	0	2	3	1	2	1	1	3	3	3	3	2	1	2	2	2	1	3	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:33592770C>G	ENST00000399362.4	-	30	3501	c.3148G>C	c.(3148-3150)Gaa>Caa	p.E1050Q	CLASP2_ENST00000539981.1_Missense_Mutation_p.E820Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.E830Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.E810Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.E532Q|CLASP2_ENST00000468888.2_Missense_Mutation_p.E1051Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.E1042Q	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1052										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						CTTTTGGGTTCTGTTGTCCAA	0.388													46	65					0	0	0	0	G	33592770	C	G	33592770	3	3	478	1	0	0	0	0	1	0	0	0	3485	922	32	2	1433	2	CLASP2	3	33592770	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		33592770	164429660	16	91811											
USP4	7375	broad.mit.edu	37	chr3	49343283	49343283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggcttcatactcatctttGagaaagtagtcagtcagtgg	10	13	10	8	1	5	1	4	1	1	1	6	2	5	1	0	2	1	2	0	2	3	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:49343283G>A	ENST00000351842.4	-	8	860	c.852C>T	c.(850-852)ctC>ctT	p.L284L	USP4_ENST00000265560.4_Silent_p.L331L|USP4_ENST00000488520.1_5'UTR	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	331					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACTCATCTTTGAGAAAGTAGT	0.438													6	59					0	0	0	0	A	49343283	G	A	49343283	2	1	478	1	0	0	0	0	0	0	0	1	17167	1277	45	2		2	USP4	3	49343283	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	15750513	49343283	148679147	17	91812											
LRIG1	26018	broad.mit.edu	37	chr3	66501997	66501997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttacagaaagagagagacGacatgtgatgaagcagcgcc	16	5	12	8	2	0	5	0	2	0	3	0	8	0	5	1	0	3	1	1	0	3	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:66501997G>A	ENST00000383703.3	-	3	954	c.351C>T	c.(349-351)gtC>gtT	p.V117V	LRIG1_ENST00000273261.3_Silent_p.V117V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	117						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGAGAGAGACGACATGTGATG	0.483													5	95					0	0	0	0	A	66501997	G	A	66501997	2	1	478	1	0	0	0	0	0	0	0	1	9008	1045	37	1		1	LRIG1	3	66501997	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	17158714	66501997	131520433	18	91813											
MECOM	2122	broad.mit.edu	37	chr3	168812977	168812977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctttattgtggatgttgCgaacatgcctttgcaagtta	8	17	9	7	1	1	0	0	0	1	0	2	2	1	1	1	1	4	3	1	1	4	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:168812977C>T	ENST00000464456.1	-	11	3515	c.2315G>A	c.(2314-2316)cGc>cAc	p.R772H	MECOM_ENST00000460814.1_Missense_Mutation_p.R772H|MECOM_ENST00000392736.3_Missense_Mutation_p.R781H|MECOM_ENST00000494292.1_Missense_Mutation_p.R960H|MECOM_ENST00000264674.3_Missense_Mutation_p.R846H|MECOM_ENST00000468789.1_Missense_Mutation_p.R781H|MECOM_ENST00000472280.1_Missense_Mutation_p.R782H|MECOM_ENST00000433243.2_Missense_Mutation_p.R782H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGGATGTTGCGAACATGCCT	0.333													7	155					0	0	0	0	T	168812977	C	T	168812977	3	4	478	1	0	0	0	0	1	0	0	0	9491	768	27	1	833	1	MECOM	3	168812977	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	102310980	168812977	29209453	19	91814											
PIGX	54965	broad.mit.edu	37	chr3	196454932	196454932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgtgcactgccgctatCatcggccgcacagtgaagat	8	9	11	13	3	1	2	1	1	0	1	2	2	1	2	3	1	3	3	3	1	2	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:196454932C>T	ENST00000314118.4	+	4	616	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	PIGX_ENST00000541663.1_Missense_Mutation_p.H45Y|PIGX_ENST00000421265.1_Missense_Mutation_p.H112Y	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	153					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CTGCCGCTATCATCGGCCGCA	0.453													32	181					0	0	0	0	T	196454932	C	T	196454932	3	4	478	1	0	0	0	0	1	0	0	0	11975	826	29	2	471	2	PIGX	3	196454932	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	27641955	196454932	1567498	20	91815											
FGFR3	2261	broad.mit.edu	37	chr4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatctgcccccacagagCgctccccgcaccggcccatc	6	5	8	22	4	2	1	1	0	1	1	4	1	3	1	6	1	2	2	6	1	0	0	rs121913482		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:1803564C>T	ENST00000340107.4	+	7	998	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.R248C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	248			R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCCCACAGAGCGCTCCCCGCA	0.741		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				6	34					0	0	0	0	T	1803564	C	T	1803564	3	4	478	1	0	0	0	0	1	0	0	0	5912	768	27	1	764	1	FGFR3	4	1803564	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		1803564	189350712	21	91816											
FGFR3	2261	broad.mit.edu	37	chr4	1808029	1808029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgaggccttgtttgacCgagtctacactcaccagagt	8	10	10	13	2	2	3	1	2	1	1	2	4	2	3	4	1	1	1	4	1	1	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:1808029C>G	ENST00000340107.4	+	15	2267	c.2011C>G	c.(2011-2013)Cga>Gga	p.R671G	FGFR3_ENST00000440486.2_Missense_Mutation_p.R669G|FGFR3_ENST00000412135.2_Missense_Mutation_p.R557G|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Missense_Mutation_p.R557G|FGFR3_ENST00000260795.2_Missense_Mutation_p.R669G	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	669	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTTGTTTGACCGAGTCTACAC	0.657		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				24	39					0	0	0	0	G	1808029	C	G	1808029	3	3	478	1	0	0	0	0	1	0	0	0	5912	644	23	3	2214	3	FGFR3	4	1808029	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	4465	1808029	189346247	22	91817											
GUF1	60558	broad.mit.edu	37	chr4	44682767	44682767	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgataaattgcaagtggaaCgagaaagaggaatcactgtt	16	10	11	4	1	1	3	1	1	0	2	1	6	1	5	0	2	2	2	0	2	6	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:44682767C>T	ENST00000281543.5	+	3	528	c.334C>T	c.(334-336)Cga>Tga	p.R112*	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	112					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						gcaagtggaacgagaaagagg	0.333													10	48					0	0	0	0	T	44682767	C	T	44682767	4	4	478	1	0	0	0	0	0	1	0	0	6949	528	19	1	344	1	GUF1	4	44682767	Nonsense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	42874738	44682767	146471509	23	91818											
ENOPH1	58478	broad.mit.edu	37	chr4	83378133	83378133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaagttaccgaaagatTgcagacagcattgggtgctc	13	9	12	7	1	0	3	0	1	0	2	1	4	0	3	1	1	4	4	1	1	3	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:83378133T>C	ENST00000273920.3	+	5	856	c.588T>C	c.(586-588)atT>atC	p.I196I	ENOPH1_ENST00000509635.1_Silent_p.I108I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	196					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						ACCGAAAGATTGCAGACAGCA	0.388													8	139					0	0	0	0	C	83378133	T	C	83378133	2	2	478	1	0	0	0	0	0	0	0	1	5162	1800	63	5		5	ENOPH1	4	83378133	Silent	SNP	T	TCGA-QK-A6V9-01A-11D-A34J-08	38695366	83378133	107776143	24	91819											
TIFA	92610	broad.mit.edu	37	chr4	113199441	113199441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccaaatttcaccacttcGctggaagggagtttctctct	8	12	9	12	2	3	0	1	0	2	0	5	2	3	2	2	3	0	2	2	3	2	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:113199441G>A	ENST00000361717.2	-	2	413	c.132C>T	c.(130-132)agC>agT	p.S44S	TIFA_ENST00000500655.2_Silent_p.S44S	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	44							protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCACCACTTCGCTGGAAGGGA	0.408													80	235					0	0	0	0	A	113199441	G	A	113199441	2	1	478	1	0	0	0	0	0	0	0	1	15988	1078	38	1		1	TIFA	4	113199441	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	29821308	113199441	77954835	25	91820											
SYNPO2	171024	broad.mit.edu	37	chr4	119952399	119952399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgcaagtactttgaaCgtggctggtcccttcaaagg	8	10	12	11	2	1	1	1	1	0	0	2	1	2	1	2	4	3	3	2	4	4	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:119952399C>T	ENST00000307142.4	+	4	2665	c.2469C>T	c.(2467-2469)aaC>aaT	p.N823N	SYNPO2_ENST00000434046.2_Silent_p.N823N|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.N823N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	823						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			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						GTACTTTGAACGTGGCTGGTC	0.532													13	81					0	0	0	0	T	119952399	C	T	119952399	2	4	478	1	0	0	0	0	0	0	0	1	15548	535	19	1		1	SYNPO2	4	119952399	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	6752958	119952399	71201877	26	91821											
ANKRD50	57182	broad.mit.edu	37	chr4	125591221	125591221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaattgatcagcatggtttgGatcagcaccatgctctaata	13	12	8	8	0	3	1	2	1	1	0	3	2	3	2	1	2	3	4	1	2	3	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:125591221G>A	ENST00000504087.1	-	4	4248	c.3211C>T	c.(3211-3213)Cca>Tca	p.P1071S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P892S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1071										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCATGGTTTGGATCAGCACCA	0.418													36	128					0	0	0	0	A	125591221	G	A	125591221	3	1	478	1	0	0	0	0	1	0	0	0	676	1174	41	2	1082	2	ANKRD50	4	125591221	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	5638822	125591221	65563055	27	91822											
SMAD1	4086	broad.mit.edu	37	chr4	146460987	146460987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggttccaagacacagCgaatataatcctcagcacag	13	8	9	11	1	1	1	1	0	0	1	3	2	3	1	2	1	3	3	2	1	4	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:146460987C>T	ENST00000515385.1	+	3	974	c.432C>T	c.(430-432)agC>agT	p.S144S	SMAD1_ENST00000302085.4_Silent_p.S144S|SMAD1_ENST00000394092.2_Silent_p.S144S			Q15797	SMAD1_HUMAN	SMAD family member 1	144					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CAAGACACAGCGAATATAATC	0.413													11	72					0	0	0	0	T	146460987	C	T	146460987	2	4	478	1	0	0	0	0	0	0	0	1	14845	767	27	1		1	SMAD1	4	146460987	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	20869766	146460987	44693289	28	91823											
ADAM29	11086	broad.mit.edu	37	chr4	175898251	175898251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgctacaaagaattgaaCaccttaggtgaccgtgttgg	12	11	10	8	1	0	3	0	2	0	1	0	3	0	3	2	2	3	2	2	2	5	5			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:175898251C>A	ENST00000359240.3	+	5	2245	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	ADAM29_ENST00000514159.1_Missense_Mutation_p.N525K|ADAM29_ENST00000445694.1_Missense_Mutation_p.N525K|ADAM29_ENST00000404450.4_Missense_Mutation_p.N525K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	525	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGAATTGAACACCTTAGGTG	0.413													33	135					1.06801e-11	1.09587e-11	1	0	A	175898251	C	A	175898251	3	1	478	1	0	0	0	0	1	0	0	0	247	477	17	4	1577	4	ADAM29	4	175898251	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	29437264	175898251	15256025	29	91824											
FAT1	2195	broad.mit.edu	37	chr4	187560921	187560921	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggtctagcttccttgaCgtagttgtgatgagacctgt	6	15	11	9	2	2	3	0	3	2	1	4	4	3	3	2	1	1	3	2	1	2	5	rs115460650	by1000genomes	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:187560921C>T	ENST00000441802.2	-	4	3806	c.3597G>A	c.(3595-3597)acG>acA	p.T1199T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1199	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTTCCTTGACGTAGTTGTGA	0.333										HNSCC(5;0.00058)			11	204					0	0	0	0	T	187560921	C	T	187560921	2	4	478	1	0	0	0	0	0	0	0	1	5734	523	19	1		1	FAT1	4	187560921	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	11662670	187560921	3593355	30	91825											
C5orf22	55322	broad.mit.edu	37	chr5	31534463	31534463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatttcgactcacatccaGacctccttattcctgtgaat	10	14	4	13	1	1	2	1	1	0	1	5	3	4	2	4	0	1	0	4	0	3	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:31534463G>T	ENST00000325366.9	+	2	293	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	56										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CTCACATCCAGACCTCCTTAT	0.398													49	137					8.94452e-30	9.42369e-30	1	0	T	31534463	G	T	31534463	3	4	478	1	0	0	0	0	1	0	0	0	2306	942	33	2	172	2	C5orf22	5	31534463	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08		31534463	149380797	31	91826											
HCN1	348980	broad.mit.edu	37	chr5	45262772	45262772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attcagggttgtcatttgagGataattgatgggagcgattg	10	14	14	3	1	2	2	2	2	0	0	2	5	2	4	0	3	1	1	0	3	1	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:45262772G>A	ENST00000303230.4	-	8	1981	c.1924C>T	c.(1924-1926)Cct>Tct	p.P642S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	642						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCATTTGAGGATAATTGATG	0.498													39	131					0	0	0	0	A	45262772	G	A	45262772	3	1	478	1	0	0	0	0	1	0	0	0	7046	1174	41	2	752	2	HCN1	5	45262772	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	13728309	45262772	135652488	32	91827											
TNPO1	3842	broad.mit.edu	37	chr5	72201220	72201220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttaaaagagcgtcttgcaGctttttatggtgtttaatct	9	17	8	7	1	2	1	0	0	2	1	2	1	2	1	1	1	3	3	1	1	4	7			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:72201220G>A	ENST00000337273.5	+	24	3106	c.2680G>A	c.(2680-2682)Gct>Act	p.A894T	TNPO1_ENST00000454282.1_Missense_Mutation_p.A844T|TNPO1_ENST00000523768.1_Missense_Mutation_p.A844T|TNPO1_ENST00000506351.2_Missense_Mutation_p.A886T	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	894					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCGTCTTGCAGCTTTTTATGG	0.358													38	91					0	0	0	0	A	72201220	G	A	72201220	3	1	478	1	0	0	0	0	1	0	0	0	16429	971	34	4	2774	4	TNPO1	5	72201220	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	26938448	72201220	108714040	33	91828											
MCTP1	79772	broad.mit.edu	37	chr5	94230404	94230404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctccagggagttgaCagacaggtcagagatgctga	10	8	14	9	0	1	4	1	2	0	2	3	6	3	5	2	3	1	2	2	3	0	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:94230404C>T	ENST00000515393.1	-	11	1788	c.1789G>A	c.(1789-1791)Gtc>Atc	p.V597I	MCTP1_ENST00000312216.8_Missense_Mutation_p.V376I|MCTP1_ENST00000505208.1_Missense_Mutation_p.V376I|MCTP1_ENST00000505078.1_Missense_Mutation_p.V113I|MCTP1_ENST00000429576.2_Missense_Mutation_p.V330I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	597					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGGGAGTTGACAGACAGGTCA	0.522													41	100					0	0	0	0	T	94230404	C	T	94230404	3	4	478	1	0	0	0	0	1	0	0	0	9469	478	17	4	1262	4	MCTP1	5	94230404	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	22029184	94230404	86684856	34	91829											
CEP120	153241	broad.mit.edu	37	chr5	122708454	122708454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaatcttatacttattttCagcatcattaagctgtatta	14	17	3	7	0	3	0	2	0	1	0	3	0	3	0	0	0	3	3	0	0	8	8			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:122708454C>T	ENST00000306467.5	-	17	2675	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	CEP120_ENST00000328236.5_Missense_Mutation_p.E791K|CEP120_ENST00000306481.6_Missense_Mutation_p.E765K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	791						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TACTTATTTTCAGCATCATTA	0.294													10	42					0	0	0	0	T	122708454	C	T	122708454	3	4	478	1	0	0	0	0	1	0	0	0	3275	835	29	2	605	2	CEP120	5	122708454	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	28478050	122708454	58206806	35	91830											
CATSPER3	347732	broad.mit.edu	37	chr5	134305762	134305762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttatgacataaggtacCgcttgttcagacttcttgag	10	13	9	9	1	2	3	1	2	1	1	2	3	2	3	2	1	1	4	2	1	3	7			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:134305762C>T	ENST00000282611.6	+	2	318	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	78					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATAAGGTACCGCTTGTTCAG	0.338													54	151					0	0	0	0	T	134305762	C	T	134305762	3	4	478	1	0	0	0	0	1	0	0	0	2714	652	23	1	238	1	CATSPER3	5	134305762	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	11597308	134305762	46609498	36	91831											
ANXA6	309	broad.mit.edu	37	chr5	150498944	150498944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagagccttttcatctgtgCcggctccctggaatgtcaag	8	12	10	11	1	3	1	2	0	1	1	4	2	4	2	3	2	2	1	3	2	3	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:150498944C>G	ENST00000354546.5	-	18	1582	c.1355G>C	c.(1354-1356)gGc>gCc	p.G452A	ANXA6_ENST00000521512.1_Missense_Mutation_p.G245A|ANXA6_ENST00000356496.5_Missense_Mutation_p.G452A|ANXA6_ENST00000377751.5_Missense_Mutation_p.G109A|ANXA6_ENST00000523714.1_Missense_Mutation_p.G420A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	452						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATCTGTGCCGGCTCCCTG	0.547													6	72					0	0	0	0	G	150498944	C	G	150498944	3	3	478	1	0	0	0	0	1	0	0	0	721	739	26	4	702	4	ANXA6	5	150498944	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	16193182	150498944	30416316	37	91832											
PKHD1	5314	broad.mit.edu	37	chr6	51889462	51889462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagtcatagcctctgaCgtggtactccccggccggaa	8	8	12	13	3	2	1	1	1	1	0	3	3	3	2	4	3	3	2	4	3	3	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr6:51889462C>T	ENST00000371117.3	-	32	5421	c.5146G>A	c.(5146-5148)Gtc>Atc	p.V1716I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1716I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1716	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGCCTCTGACGTGGTACTCC	0.522													26	74					0	0	0	0	T	51889462	C	T	51889462	3	4	478	1	0	0	0	0	1	0	0	0	12043	536	19	1	7261	1	PKHD1	6	51889462	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		51889462	119225605	38	91833											
PTPRK	5796	broad.mit.edu	37	chr6	128388788	128388788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggggcaggctcaggtaggTttcccggggggagttctgca	6	8	18	9	2	2	0	1	0	1	0	3	1	3	1	1	8	1	6	1	8	1	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr6:128388788T>C	ENST00000368227.3	-	12	2399	c.2033A>G	c.(2032-2034)aAc>aGc	p.N678S	PTPRK_ENST00000368213.5_Missense_Mutation_p.N678S|PTPRK_ENST00000368210.3_Missense_Mutation_p.N678S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.N678S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368215.3_Missense_Mutation_p.N678S|PTPRK_ENST00000532331.1_Missense_Mutation_p.N678S|PTPRK_ENST00000368207.3_Missense_Mutation_p.N678S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	678	Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCAGGTAGGTTTCCCGGGGG	0.542													4	92					0	0	0	0	C	128388788	T	C	128388788	3	2	478	1	0	0	0	0	1	0	0	0	12887	1725	60	5	2387	5	PTPRK	6	128388788	Missense_Mutation	SNP	T	TCGA-QK-A6V9-01A-11D-A34J-08	76499326	128388788	42726279	39	91834											
AUTS2	26053	broad.mit.edu	37	chr7	70228014	70228014	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttaaagacccctgccctCaggtcgcacagccaataccc	10	7	7	17	1	1	1	1	0	0	1	2	1	1	1	5	1	4	2	5	1	4	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:70228014C>T	ENST00000342771.4	+	7	1222	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q301*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	301										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTGCCCTCAGGTCGCACA	0.597													33	65					0	0	0	0	T	70228014	C	T	70228014	4	4	478	1	0	0	0	0	0	1	0	0	1229	827	29	2	1072	2	AUTS2	7	70228014	Nonsense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		70228014	88910649	40	91835											
FGL2	10875	broad.mit.edu	37	chr7	76825863	76825863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgaaaaacttcagatcGtggttgtaatgtttgttgaa	11	15	12	3	1	1	3	1	2	0	1	2	3	1	3	0	2	1	4	0	2	4	5	rs147938006		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:76825863G>A	ENST00000248598.5	-	2	1085	c.1053C>T	c.(1051-1053)caC>caT	p.H351H	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	351	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACTTCAGATCGTGGTTGTAAT	0.408													4	135					0	0	0	0	A	76825863	G	A	76825863	2	1	478	1	0	0	0	0	0	0	0	1	5918	1136	40	1		1	FGL2	7	76825863	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	6597849	76825863	82312800	41	91836											
FBXO24	26261	broad.mit.edu	37	chr7	100189426	100189426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcattcttgactacgtgggGaccctcttcttcctcaaaaa	9	14	6	12	1	5	1	2	1	3	0	6	2	6	2	2	2	1	0	2	2	3	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:100189426G>A	ENST00000241071.6	+	4	781	c.459G>A	c.(457-459)ggG>ggA	p.G153G	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.G139G|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Silent_p.G191G|FBXO24_ENST00000468962.1_Silent_p.G141G|FBXO24_ENST00000465843.1_Silent_p.G139G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	153						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTACGTGGGGACCCTCTTCT	0.597													39	97					0	0	0	0	A	100189426	G	A	100189426	2	1	478	1	0	0	0	0	0	0	0	1	5780	1161	41	2		2	FBXO24	7	100189426	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	23363563	100189426	58949237	42	91837											
LAMB4	22798	broad.mit.edu	37	chr7	107674717	107674717	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaatggtagagtttgccCgtccttgagtgatttgagct	7	15	13	6	1	0	4	0	3	0	1	1	4	1	4	2	1	2	4	2	1	2	5			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:107674717C>G	ENST00000388781.3	-	31	4837	c.4754G>C	c.(4753-4755)cGg>cCg	p.R1585P	LAMB4_ENST00000388780.3_Missense_Mutation_p.R1585P|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1585P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1585	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGAGTTTGCCCGTCCTTGAGT	0.338													45	137					0	0	0	0	G	107674717	C	G	107674717	3	3	478	1	0	0	0	0	1	0	0	0	8666	652	23	3	547	3	LAMB4	7	107674717	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	7485291	107674717	51463946	43	91838											
CCDC136	64753	broad.mit.edu	37	chr7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-																															aagaggaggaagaagaggtgGaagaagaagaagaacaagtg																										TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:128434467_128434469delGAA	ENST00000297788.4	+	2	449_451	c.82_84delGAA	c.(82-84)del	p.E32del	CCDC136_ENST00000378685.4_In_Frame_Del_p.E82del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E32del|CCDC136_ENST00000464832.1_In_Frame_Del_p.E82del	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	32	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552													2	4	---	---	---	---					-	128434469	GAA	-	128434467	7	5	478	1	0	1	0	1	0	0	0	0	2795	1175	41	0	88	0	CCDC136	7	128434467	In_Frame_Del	DEL	GAA	TCGA-QK-A6V9-01A-11D-A34J-08	20759750	128434467	30704196	44	91839											
TAS2R60	338398	broad.mit.edu	37	chr7	143140993	143140993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctcttcagctctgtaGggctctccagcttcaccacc	6	11	9	15	0	5	0	2	0	3	0	6	1	5	1	3	2	3	5	3	2	1	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:143140993G>A	ENST00000332690.1	+	1	448	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	150					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CAGCTCTGTAGGGCTCTCCAG	0.453													66	120					0	0	0	0	A	143140993	G	A	143140993	3	1	478	1	0	0	0	0	1	0	0	0	15676	1000	35	4	450	4	TAS2R60	7	143140993	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	14706526	143140993	15997670	45	91840											
FASTK	10922	broad.mit.edu	37	chr7	150775682	150775682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcgtttcctgaaccaccagGaagtgggcaatggcttccag	9	9	12	11	1	0	1	0	1	0	0	2	2	2	2	4	3	2	3	4	3	3	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:150775682G>A	ENST00000297532.6	-	4	869	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FASTK_ENST00000353841.2_Silent_p.F123F|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Silent_p.F237F	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	264					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GAACCACCAGGAAGTGGGCAA	0.637													12	36					0	0	0	0	A	150775682	G	A	150775682	2	1	478	1	0	0	0	0	0	0	0	1	5729	1165	41	2		2	FASTK	7	150775682	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	7634689	150775682	8362981	46	91841											
CA9	768	broad.mit.edu	37	chr9	35675835	35675835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatatccgcccccagctcGccgccttctgcccggccctg	3	8	10	20	4	1	0	0	0	1	0	3	1	2	1	7	2	2	1	7	2	1	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr9:35675835G>A	ENST00000378357.4	+	3	615	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	171	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCCAGCTCGCCGCCTTCTG	0.721													8	29					0	0	0	0	A	35675835	G	A	35675835	3	1	478	1	0	0	0	0	1	0	0	0	2549	1087	38	1	521	1	CA9	9	35675835	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08		35675835	105537596	47	91842											
OR2D3	120775	broad.mit.edu	37	chr11	6942996	6942996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggagactcaaggctttttCcacctgtggctcccatctta	8	12	9	12	0	2	1	1	0	1	1	4	2	4	1	3	3	0	2	3	3	2	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:6942996C>T	ENST00000317834.3	+	1	792	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCTTTTTCCACCTGTGGC	0.453													32	94					0	0	0	0	T	6942996	C	T	6942996	3	4	478	1	0	0	0	0	1	0	0	0	11066	855	30	2	766	2	OR2D3	11	6942996	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		6942996	128063520	48	91843											
CHRM4	1132	broad.mit.edu	37	chr11	46407895	46407895	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcacacgccaggctgaaGaggaagtagttgttgactgt	11	9	13	8	1	1	3	1	2	0	1	1	4	1	4	1	2	1	5	1	2	3	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:46407895G>C	ENST00000433765.2	-	1	212	c.213C>G	c.(211-213)ctC>ctG	p.L71L		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	71					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CCAGGCTGAAGAGGAAGTAGT	0.567													18	43					0	0	0	0	C	46407895	G	C	46407895	2	2	478	1	0	0	0	0	0	0	0	1	3408	929	33	2		2	CHRM4	11	46407895	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	39464899	46407895	88598621	49	91844											
AMBRA1	55626	broad.mit.edu	37	chr11	46564148	46564148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttgccaaccctgatgcCggaaaacccctcccttctgt	8	10	7	16	1	2	1	1	1	1	0	3	2	3	2	6	1	4	1	6	1	3	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:46564148C>T	ENST00000458649.2	-	7	1837	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P	AMBRA1_ENST00000534300.1_Silent_p.P473P|AMBRA1_ENST00000533727.1_Silent_p.P383P|AMBRA1_ENST00000528950.1_Silent_p.P473P|AMBRA1_ENST00000314845.3_Silent_p.P383P|AMBRA1_ENST00000298834.3_Silent_p.P473P|AMBRA1_ENST00000426438.1_Silent_p.P473P			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	473					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACCCTGATGCCGGAAAACCCC	0.557													4	109					0	0	0	0	T	46564148	C	T	46564148	2	4	478	1	0	0	0	0	0	0	0	1	565	639	23	1		1	AMBRA1	11	46564148	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	156253	46564148	88442368	50	91845											
OR5T3	390154	broad.mit.edu	37	chr11	56020607	56020607	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatattttacacaattgTgattcccaagttgaatccca	13	14	5	9	0	1	2	1	2	0	0	3	2	3	2	2	0	1	1	2	0	6	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:56020607T>G	ENST00000303059.3	+	1	932	c.932T>G	c.(931-933)gTg>gGg	p.V311G		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TACACAATTGTGATTCCCAAG	0.333													4	99					0	0	0	0	G	56020607	T	G	56020607	3	3	478	1	0	0	0	0	1	0	0	0	11254	1696	59	5	934	5	OR5T3	11	56020607	Missense_Mutation	SNP	T	TCGA-QK-A6V9-01A-11D-A34J-08	9456459	56020607	78985909	51	91846											
AHNAK	79026	broad.mit.edu	37	chr11	62291175	62291175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacctctggccctttcaGatccccttcaagtttgggaa	9	12	7	13	0	4	1	3	0	1	1	5	2	5	2	4	2	1	1	4	2	3	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:62291175G>T	ENST00000378024.4	-	5	10988	c.10714C>A	c.(10714-10716)Ctg>Atg	p.L3572M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3572					nervous system development	nucleus	protein binding			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)				GGCCCTTTCAGATCCCCTTCA	0.473													94	259					7.49063e-41	8.0354e-41	1	0	T	62291175	G	T	62291175	3	4	478	1	0	0	0	0	1	0	0	0	414	933	33	2	7078	2	AHNAK	11	62291175	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	6270568	62291175	72715341	52	91847											
EML3	256364	broad.mit.edu	37	chr11	62373658	62373658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatagaaccttcatgagcGtgagcctgggccacaatccc	12	7	10	12	1	1	4	1	2	0	2	2	4	2	4	4	1	3	0	4	1	4	2	rs150541468	by1000genomes	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:62373658G>A	ENST00000394773.2	-	13	1840	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	EML3_ENST00000494176.2_Silent_p.H483H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Silent_p.H511H|EML3_ENST00000531557.1_Silent_p.H294H|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000278845.4_Silent_p.H512H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	511						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTCATGAGCGTGAGCCTGGG	0.622													11	33					0	0	0	0	A	62373658	G	A	62373658	2	1	478	1	0	0	0	0	0	0	0	1	5136	1136	40	1		1	EML3	11	62373658	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	82483	62373658	72632858	53	91848											
DPP3	10072	broad.mit.edu	37	chr11	66260377	66260377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccggcatcaacatcccCaactgtgagtgtctcaggcc	8	8	9	16	1	2	1	2	1	1	0	4	1	3	1	5	2	3	1	5	2	2	0			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:66260377C>T	ENST00000532677.1	+	10	1637	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	DPP3_ENST00000541961.1_Silent_p.P393P|DPP3_ENST00000360510.2_Silent_p.P393P|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Silent_p.P413P|DPP3_ENST00000453114.1_Silent_p.P393P|DPP3_ENST00000530165.1_Silent_p.P363P	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	393					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCAACATCCCCAACTGTGAGT	0.597													24	75					0	0	0	0	T	66260377	C	T	66260377	2	4	478	1	0	0	0	0	0	0	0	1	4764	581	21	4		4	DPP3	11	66260377	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	3886719	66260377	68746139	54	91849											
GALNT8	26290	broad.mit.edu	37	chr12	4830002	4830002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacatctgaataaacgctaCggggcagtgataaagagact	15	9	10	7	2	1	3	0	2	1	1	1	4	1	3	0	2	3	2	0	2	7	4	rs142462599		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:4830002C>T	ENST00000252318.2	+	1	496	c.159C>T	c.(157-159)taC>taT	p.Y53Y	RP11-234B24.6_ENST00000544741.2_Intron	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	53			Y -> D (in dbSNP:rs10849133).|Y -> N.			Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATAAACGCTACGGGGCAGTGA	0.468													34	107					0	0	0	0	T	4830002	C	T	4830002	2	4	478	1	0	0	0	0	0	0	0	1	6268	547	19	1		1	GALNT8	12	4830002	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		4830002	129021893	55	91850											
VWF	7450	broad.mit.edu	37	chr12	6058985	6058986	+	Frame_Shift_Ins	INS	-	-	T																															tatccacctctacttcagacINSttacagcttcccaccttgac																										TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:6058985_6058986insT	ENST00000261405.5	-	51	8473_8474	c.8219_8220insA	c.(8218-8220)atcfs	p.I2740fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2740	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTACTTCAGACTTACAGCTTCC	0.54													29	77	---	---	---	---					T	6058986	-	T	6058985	7	5	478	1	0	1	1	0	0	0	0	0	17342	564	20	0	229	0	VWF	12	6058985	Frame_Shift_Ins	INS	-	TCGA-QK-A6V9-01A-11D-A34J-08	1228983	6058985	127792910	56	91851											
ATN1	1822	broad.mit.edu	37	chr12	7046325	7046325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaggctacaaaacggcctCcccacctgggcccccaccgt	9	4	9	19	2	0	0	0	0	0	0	1	0	1	0	7	3	3	2	7	3	3	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:7046325C>T	ENST00000356654.4	+	5	2132	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F	ATN1_ENST00000396684.2_Missense_Mutation_p.S632F	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	632					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AAAACGGCCTCCCCACCTGGG	0.657													21	59					0	0	0	0	T	7046325	C	T	7046325	3	4	478	1	0	0	0	0	1	0	0	0	1115	855	30	2	1909	2	ATN1	12	7046325	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	987340	7046325	126805570	57	91852											
ATN1	1822	broad.mit.edu	37	chr12	7046450	7046450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggggaccccaccgggctatCgaggaacctcgccacctgca	8	4	12	17	4	0	0	0	0	0	0	2	3	0	2	6	4	2	2	6	4	2	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:7046450C>G	ENST00000356654.4	+	5	2257	c.2020C>G	c.(2020-2022)Cga>Gga	p.R674G	ATN1_ENST00000396684.2_Missense_Mutation_p.R674G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	674					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ACCGGGCTATCGAGGAACCTC	0.711													5	13					0	0	0	0	G	7046450	C	G	7046450	3	3	478	1	0	0	0	0	1	0	0	0	1115	876	31	3	2034	3	ATN1	12	7046450	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	125	7046450	126805445	58	91853											
ARID2	196528	broad.mit.edu	37	chr12	46245982	46245982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgagaaaaccgctagttaAtggaatctgtgattttgata	13	15	9	4	1	1	3	0	3	1	1	1	5	1	4	1	1	1	2	1	1	6	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:46245982A>G	ENST00000334344.6	+	15	4248	c.4076A>G	c.(4075-4077)aAt>aGt	p.N1359S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.N969S|ARID2_ENST00000422737.1_Missense_Mutation_p.N1210S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1359					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCGCTAGTTAATGGAATCTGT	0.353			"N, S, F"		hepatocellular carcinoma								19	52					0	0	0	0	G	46245982	A	G	46245982	3	3	478	1	0	0	0	0	1	0	0	0	917	101	4	5	4134	5	ARID2	12	46245982	Missense_Mutation	SNP	A	TCGA-QK-A6V9-01A-11D-A34J-08	39199532	46245982	87605913	59	91854											
APOF	319	broad.mit.edu	37	chr12	56755864	56755864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgcatcaagacatttgtCtgctttccatatgaagtggc	11	13	9	8	0	2	2	1	1	1	1	3	2	3	2	1	1	2	2	1	1	4	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:56755864C>T	ENST00000398189.3	-	2	203	c.126G>A	c.(124-126)caG>caA	p.Q42Q	APOF_ENST00000541105.1_Silent_p.Q24Q	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	42					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						AGACATTTGTCTGCTTTCCAT	0.517													58	95					0	0	0	0	T	56755864	C	T	56755864	2	4	478	1	0	0	0	0	0	0	0	1	805	912	32	2		2	APOF	12	56755864	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	10509882	56755864	77096031	60	91855											
ATP5B	506	broad.mit.edu	37	chr12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctcagcaatggcacgcGacagtacagtggtagcatcc	11	6	11	13	2	1	0	1	0	0	0	2	1	2	0	2	2	4	6	2	2	3	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:57033894G>A	ENST00000262030.3	-	8	1207	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S375L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	386					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512													20	60					0	0	0	0	A	57033894	G	A	57033894	3	1	478	1	0	0	0	0	1	0	0	0	1152	1059	37	1	444	1	ATP5B	12	57033894	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	278030	57033894	76818001	61	91856											
CKAP4	10970	broad.mit.edu	37	chr12	106633043	106633043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcctgaggaggcagaCgggcggcctgggcttggtcc	6	6	19	10	2	0	2	0	1	0	1	2	4	2	4	3	7	0	2	3	7	1	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:106633043C>A	ENST00000378026.4	-	2	1704	c.1568G>T	c.(1567-1569)cGt>cTt	p.R523L		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	523						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGAGGCAGACGGGCGGCCTG	0.587													33	70					8.16721e-17	8.45378e-17	1	0	A	106633043	C	A	106633043	3	1	478	1	0	0	0	0	1	0	0	0	3474	536	19	3	244	3	CKAP4	12	106633043	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	49599149	106633043	27218852	62	91857											
PITPNM2	57605	broad.mit.edu	37	chr12	123480156	123480156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccgccaccgccaccacCgcagcagtgtgctgcattca	8	5	9	19	4	1	0	1	0	0	0	1	0	1	0	7	0	3	4	7	0	0	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:123480156C>T	ENST00000280562.5	-	13	2039	c.1834G>A	c.(1834-1836)Ggt>Agt	p.G612S	PITPNM2_ENST00000320201.4_Missense_Mutation_p.G612S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.G333S|PITPNM2_ENST00000542749.1_Missense_Mutation_p.G612S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	612	Gly-rich.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ccgccaccaccGCAGCAGTGT	0.677													4	28					0	0	0	0	T	123480156	C	T	123480156	3	4	478	1	0	0	0	0	1	0	0	0	12023	652	23	1	2267	1	PITPNM2	12	123480156	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	16847113	123480156	10371739	63	91858											
RB1	5925	broad.mit.edu	37	chr13	49027168	49027168	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattaaacaatcaaaggacCgagaaggaccaactgatcac	18	7	7	9	1	2	2	2	1	0	1	2	5	2	4	2	2	2	0	2	2	7	2	rs121913305		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr13:49027168C>T	ENST00000267163.4	+	18	1873	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	579	Domain A.|Pocket; binds T and E1A.				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.?(10)|p.R579*(5)|p.R579fs*29(1)		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)	ATCAAAGGACCGAGAAGGACC	0.338	R579*(SW1783_CENTRAL_NERVOUS_SYSTEM)	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)			26	51					0	0	0	0	T	49027168	C	T	49027168	4	4	478	1	0	0	0	0	0	1	0	0	13180	644	23	1	1805	1	RB1	13	49027168	Nonsense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		49027168	66142710	64	91859											
GAS6	2621	broad.mit.edu	37	chr13	114538573	114538574	+	Frame_Shift_Del	DEL	CC	CC	-																															caggttcttgcagcgcgcctCcccgcaggcctccgagtctg																										TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr13:114538573_114538574delCC	ENST00000357389.3	-	7	776_777	c.624_625delGG	c.(622-627)ggagfs	p.GE208fs	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_5'UTR|GAS6_ENST00000355761.4_Frame_Shift_Del_p.GE154fs|GAS6_ENST00000327773.6_Frame_Shift_Del_p.GE208fs			Q14393	GAS6_HUMAN	growth arrest-specific 6	208	EGF-like 3; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CAGCGCGCCTCCCCGCAGGCCT	0.649													26	34	---	---	---	---					-	114538574	CC	-	114538573	7	5	478	1	0	1	0	1	0	0	0	0	6298	864	30	0	1447	0	GAS6	13	114538573	Frame_Shift_Del	DEL	CC	TCGA-QK-A6V9-01A-11D-A34J-08	65511405	114538573	631305	65	91860											
WDR20	91833	broad.mit.edu	37	chr14	102675621	102675621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtatcggtttggttccGtgggccaggacacacagctc	7	10	12	12	3	1	0	1	0	0	0	4	1	2	1	2	4	1	4	2	4	1	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr14:102675621G>A	ENST00000335263.5	+	3	1194	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	WDR20_ENST00000424963.2_Missense_Mutation_p.V248M|WDR20_ENST00000556511.2_Missense_Mutation_p.V311M|WDR20_ENST00000499851.2_Missense_Mutation_p.V115M|WDR20_ENST00000556807.1_Missense_Mutation_p.V311M|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.V403M|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Missense_Mutation_p.V199M|WDR20_ENST00000342702.3_Missense_Mutation_p.V372M	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	372										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GTTTGGTTCCGTGGGCCAGGA	0.498											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	88					0	0	0	0	A	102675621	G	A	102675621	3	1	478	1	0	0	0	0	1	0	0	0	17376	1145	40	1	1141	1	WDR20	14	102675621	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08		102675621	4673919	66	91861											
CHAC1	79094	broad.mit.edu	37	chr15	41245817	41245817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccgaacaccccgccCacctcgcagtcccctacgcc	7	3	7	24	4	0	0	0	0	0	0	2	1	1	0	9	0	3	2	9	0	2	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr15:41245817C>T	ENST00000446533.3	+	1	471	c.162C>T	c.(160-162)ccC>ccT	p.P54P	CHAC1_ENST00000444189.2_Silent_p.P54P	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	54					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACACCCCGCCCACCTCGCAGT	0.692													8	48					0	0	0	0	T	41245817	C	T	41245817	2	4	478	1	0	0	0	0	0	0	0	1	3337	581	21	4		4	CHAC1	15	41245817	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		41245817	61285575	67	91862											
PDCD7	10081	broad.mit.edu	37	chr15	65426077	65426077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcggcggctgcgggggcgGtgggcctgggcgaccctggc	2	4	23	12	5	0	0	0	0	0	0	0	1	0	0	2	9	1	1	2	9	0	0			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr15:65426077G>A	ENST00000204549.4	-	1	97	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	15	Pro-rich.				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TGCGGGGGCGGTGGGCCTGGG	0.687													4	3					0	0	0	0	A	65426077	G	A	65426077	3	1	478	1	0	0	0	0	1	0	0	0	11696	1261	44	4	1434	4	PDCD7	15	65426077	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	24180260	65426077	37105315	68	91863											
CCNF	899	broad.mit.edu	37	chr16	2495538	2495538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcacctgaccgtggagTgtgtggaccggtacctgcgg	5	8	16	12	3	0	1	0	1	0	0	0	3	0	3	5	4	3	2	5	4	1	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:2495538T>C	ENST00000397066.4	+	10	1097	c.1009T>C	c.(1009-1011)Tgt>Cgt	p.C337R		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	337	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GACCGTGGAGTGTGTGGACCG	0.612													20	51					0	0	0	0	C	2495538	T	C	2495538	3	2	478	1	0	0	0	0	1	0	0	0	2951	1696	59	5	1047	5	CCNF	16	2495538	Missense_Mutation	SNP	T	TCGA-QK-A6V9-01A-11D-A34J-08		2495538	87859215	69	91864											
TMC5	79838	broad.mit.edu	37	chr16	19468240	19468240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagggtaaccaggtgctgcGgttttcaacatctttgaatg	11	12	11	7	1	2	1	1	1	1	0	2	1	2	1	1	3	4	3	1	3	4	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:19468240G>A	ENST00000219821.5	+	1	469	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	TMC5_ENST00000541464.1_Intron|TMC5_ENST00000561503.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000564959.1_Intron	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	0						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGGTGCTGCGGTTTTCAACA	0.433													20	43					0	0	0	0	A	19468240	G	A	19468240	3	1	478	1	0	0	0	0	1	0	0	0	16082	1116	39	1	1274	1	TMC5	16	19468240	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	16972702	19468240	70886513	70	91865											
SCNN1B	6338	broad.mit.edu	37	chr16	23390046	23390046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggattttccacgtctTgtctcaggagcgggaccaaa	9	10	12	10	2	2	0	1	0	2	0	4	4	3	4	2	4	1	0	2	4	1	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:23390046T>G	ENST00000343070.2	+	11	1600	c.1424T>G	c.(1423-1425)tTg>tGg	p.L475W	SCNN1B_ENST00000568085.1_Missense_Mutation_p.L439W|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L448W|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L520W	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	475					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCCACGTCTTGTCTCAGGAG	0.592													3	55					0	0	0	0	G	23390046	T	G	23390046	3	3	478	1	0	0	0	0	1	0	0	0	14015	1821	63	5	1462	5	SCNN1B	16	23390046	Missense_Mutation	SNP	T	TCGA-QK-A6V9-01A-11D-A34J-08	3921806	23390046	66964707	71	91866											
VKORC1	79001	broad.mit.edu	37	chr16	31105632	31105632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctggtcaccgttattcCttggcatccaattcacgtgc	6	15	7	13	2	2	0	2	0	0	0	5	0	5	0	4	2	1	2	4	2	2	5			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:31105632C>T	ENST00000394971.3	-	1	238	c.191G>A	c.(190-192)aGg>aAg	p.R64K	VKORC1_ENST00000394975.2_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000498155.1_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	ACCGTTATTCCTTGGCATCCA	0.587													83	174					0	0	0	0	T	31105632	C	T	31105632	3	4	478	1	0	0	0	0	1	0	0	0	17268	696	24	4		4	VKORC1	16	31105632	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	7715586	31105632	59249121	72	91867											
USP10	9100	broad.mit.edu	37	chr16	84806160	84806160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcttaggttgagataagtcGaagagtgactctggaaaaac	14	10	12	5	1	2	3	0	2	2	2	3	6	2	4	0	2	1	1	0	2	5	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:84806160G>A	ENST00000219473.7	+	12	2125	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	USP10_ENST00000570191.1_Missense_Mutation_p.R675Q	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	671					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAGATAAGTCGAAGAGTGACT	0.478													54	160					0	0	0	0	A	84806160	G	A	84806160	3	1	478	1	0	0	0	0	1	0	0	0	17137	1058	37	1	2058	1	USP10	16	84806160	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	53700528	84806160	5548593	73	91868											
IRF8	3394	broad.mit.edu	37	chr16	85952173	85952173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagggcctggagctggtgcGcttcccgccggccgacgcca	4	5	16	16	6	0	0	0	0	0	0	1	3	1	1	5	4	2	2	5	4	0	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:85952173G>A	ENST00000268638.5	+	7	1174	c.752G>A	c.(751-753)cGc>cAc	p.R251H	IRF8_ENST00000562492.1_Missense_Mutation_p.R47H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	251					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAGCTGGTGCGCTTCCCGCCG	0.736													24	40					0	0	0	0	A	85952173	G	A	85952173	3	1	478	1	0	0	0	0	1	0	0	0	7889	1087	38	1	774	1	IRF8	16	85952173	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	1146013	85952173	4402580	74	91869											
CLDN7	1366	broad.mit.edu	37	chr17	7164179	7164179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccacccatggctatacGggccttcttcactttgtcgt	5	13	8	15	2	2	0	1	0	1	0	4	0	3	0	4	2	1	1	4	2	2	5			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:7164179G>A	ENST00000538261.3	-	2	1250	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	CLDN7_ENST00000571881.2_Missense_Mutation_p.P108L|CLDN7_ENST00000397317.4_Missense_Mutation_p.R117C|CLDN7_ENST00000360325.7_Missense_Mutation_p.R117C|RP1-4G17.5_ENST00000577138.1_Intron	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN	claudin 7	117					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ATGGCTATACGGGCCTTCTTC	0.607													4	102					0	0	0	0	A	7164179	G	A	7164179	3	1	478	1	0	0	0	0	1	0	0	0	3520	1116	39	1	298	1	CLDN7	17	7164179	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08		7164179	74031031	75	91870											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839806	40839806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcggaggccctcacaacttCgttcaagtgcccggtttccc	6	11	9	15	3	2	0	2	0	0	0	5	1	3	1	3	3	2	2	3	3	2	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:40839806C>T	ENST00000264638.4	+	8	1330	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	371					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.F371F(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTCACAACTTCGTTCAAGTGC	0.607													25	77					0	0	0	0	T	40839806	C	T	40839806	2	4	478	1	0	0	0	0	0	0	0	1	3676	883	31	1		1	CNTNAP1	17	40839806	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	33675627	40839806	40355404	76	91871											
ASB16	92591	broad.mit.edu	37	chr17	42248325	42248325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actaggcctcaccgttcctgCcgagacccagctgtccacca	8	7	8	18	2	1	1	1	0	0	1	3	2	3	1	7	1	2	2	7	1	1	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:42248325C>T	ENST00000293414.1	+	1	252	c.168C>T	c.(166-168)tgC>tgT	p.C56C		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	56					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCGTTCCTGCCGAGACCCAG	0.662													3	32					0	0	0	0	T	42248325	C	T	42248325	2	4	478	1	0	0	0	0	0	0	0	1	1024	747	26	4		4	ASB16	17	42248325	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	1408519	42248325	38946885	77	91872											
MAP3K14	9020	broad.mit.edu	37	chr17	43367868	43367868	+	RNA	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctacactcagcctgggCgatgatagagatggcagctg	9	7	13	12	1	1	2	1	1	0	1	1	4	1	2	3	2	3	2	3	2	2	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:43367868C>G	ENST00000344686.2	-	0	352							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCAGCCTGGGCGATGATAGAG	0.627													13	38					0	0	0	0	G	43367868	C	G	43367868	1	3	478	0	1	0	0	0	0	0	0	0	9317	768	27	3		3	MAP3K14	17	43367868	RNA	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	1119543	43367868	37827342	78	91873											
CALCOCO2	10241	broad.mit.edu	37	chr17	46939666	46939666	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttcttcccccagcccGgtaagtatttgattcatgag	10	12	9	10	1	2	2	1	2	1	0	3	3	3	2	3	1	1	3	3	1	3	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:46939666G>A	ENST00000258947.3	+	12	1274	c.1173_splice	c.e12+1	p.P391_splice	CALCOCO2_ENST00000509507.1_Splice_Site_p.P412_splice|CALCOCO2_ENST00000508679.1_Splice_Site_p.P319_splice|CALCOCO2_ENST00000416445.2_Splice_Site_p.P349_splice|CALCOCO2_ENST00000448105.2_Splice_Site_p.P415_splice	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	391					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CCCCCAGCCCGGTAAGTATTT	0.413													35	102					0	0	0	0	A	46939666	G	A	46939666	5	1	478	1	0	0	0	0	0	0	1	0	2603	1130	39	1	1215	1	CALCOCO2	17	46939666	Splice_Site	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	3571798	46939666	34255544	79	91874											
USP36	57602	broad.mit.edu	37	chr17	76823412	76823412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctggttcccaaagcGgaagtgtcgggcgatctcta	7	10	12	12	3	1	0	0	0	1	0	6	2	4	1	3	3	1	1	3	3	3	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:76823412G>A	ENST00000312010.6	-	6	928	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	USP36_ENST00000542802.2_Missense_Mutation_p.R202C|USP36_ENST00000590546.2_Missense_Mutation_p.R202C|USP36_ENST00000589424.1_Missense_Mutation_p.R202C	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	202					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCCAAAGCGGAAGTGTCGG	0.567													4	20					0	0	0	0	A	76823412	G	A	76823412	3	1	478	1	0	0	0	0	1	0	0	0	17163	1116	39	1	2827	1	USP36	17	76823412	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	29883746	76823412	4371798	80	91875											
EIF4A3	9775	broad.mit.edu	37	chr17	78113871	78113871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttcctgatgtcctcGccaacattggtgcctccaat	7	12	7	15	1	0	1	0	1	0	0	5	1	4	1	6	1	3	1	6	1	2	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:78113871G>A	ENST00000269349.3	-	5	662	c.441C>T	c.(439-441)ggC>ggT	p.G147G		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	147	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGATGTCCTCGCCAACATTGG	0.542													23	51					0	0	0	0	A	78113871	G	A	78113871	2	1	478	1	0	0	0	0	0	0	0	1	5064	1074	38	1		1	EIF4A3	17	78113871	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	1290459	78113871	3081339	81	91876											
P4HB	5034	broad.mit.edu	37	chr17	79813069	79813069	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtatttggagaacacGtcactgttggaagtgatccc	10	11	12	8	1	1	2	1	1	0	1	2	4	2	3	1	3	2	3	1	3	3	3	rs141223466	by1000genomes	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:79813069G>A	ENST00000331483.4	-	4	795	c.573C>T	c.(571-573)gaC>gaT	p.D191D	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.D147D|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	191					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TGGAGAACACGTCACTGTTGG	0.537													108	254					0	0	0	0	A	79813069	G	A	79813069	2	1	478	1	0	0	0	0	0	0	0	1	11430	1136	40	1		1	P4HB	17	79813069	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	1699198	79813069	1382141	82	91877											
RALBP1	10928	broad.mit.edu	37	chr18	9517239	9517239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctgccagccgttttccGtgaatgtatagattacgtag	8	13	11	9	4	0	2	0	1	0	1	2	2	1	2	3	1	3	4	3	1	5	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr18:9517239G>A	ENST00000019317.4	+	3	864	c.641G>A	c.(640-642)cGt>cAt	p.R214H	RALBP1_ENST00000383432.3_Missense_Mutation_p.R214H			Q15311	RBP1_HUMAN	ralA binding protein 1	214	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GCCGTTTTCCGTGAATGTATA	0.418													4	68					0	0	0	0	A	9517239	G	A	9517239	3	1	478	1	0	0	0	0	1	0	0	0	13094	1145	40	1	647	1	RALBP1	18	9517239	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08		9517239	68560009	83	91878											
SLC44A2	57153	broad.mit.edu	37	chr19	10753987	10753987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggaatgacggctcggccGagaggccttacttcatgtct	9	9	13	10	3	2	3	1	1	1	2	3	5	2	4	2	4	1	1	2	4	2	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:10753987G>A	ENST00000335757.5	+	22	2423	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E681K			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	683					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	p.E683K(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGCTCGGCCGAGAGGCCTTA	0.607													10	33					0	0	0	0	A	10753987	G	A	10753987	3	1	478	1	0	0	0	0	1	0	0	0	14724	1059	37	1	2168	1	SLC44A2	19	10753987	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08		10753987	48374996	84	91879											
ZNF14	7561	broad.mit.edu	37	chr19	19822868	19822868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgagttgtttcgtgttCtcgaagggaacttgaaaaac	11	13	12	5	2	1	2	0	2	1	0	3	4	1	3	0	1	2	3	0	1	4	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:19822868C>T	ENST00000344099.3	-	4	1360	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GTTTCGTGTTCTCGAAGGGAA	0.383													5	241					0	0	0	0	T	19822868	C	T	19822868	3	4	478	1	0	0	0	0	1	0	0	0	17823	922	32	2	710	2	ZNF14	19	19822868	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	9068881	19822868	39306115	85	91880											
ZNF208	7757	broad.mit.edu	37	chr19	22154798	22154798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgttccataaggtttgatGaccagttgaaagctttgcca	11	14	9	7	0	0	3	0	3	0	0	1	3	1	3	3	1	2	4	3	1	3	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:22154798G>A	ENST00000397126.4	-	4	3186	c.3038C>T	c.(3037-3039)tCa>tTa	p.S1013L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGTTTGATGACCAGTTGAA	0.393													31	115					0	0	0	0	A	22154798	G	A	22154798	3	1	478	1	0	0	0	0	1	0	0	0	17861	1294	45	2	808	2	ZNF208	19	22154798	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	2331930	22154798	36974185	86	91881											
SHKBP1	92799	broad.mit.edu	37	chr19	41082889	41082889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgaatgtgggaggcaaGaggtgagtgtgggagactcc	10	8	17	6	0	1	4	0	2	1	2	2	6	2	5	1	4	0	1	1	4	2	0			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:41082889G>C	ENST00000291842.5	+	1	133	c.84G>C	c.(82-84)aaG>aaC	p.K28N	SHKBP1_ENST00000600733.1_Missense_Mutation_p.K28N	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	28	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGAGGCAAGAGGTGAGTGT	0.677													4	7					0	0	0	0	C	41082889	G	C	41082889	3	2	478	1	0	0	0	0	1	0	0	0	14372	933	33	2	86	2	SHKBP1	19	41082889	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	18928091	41082889	18046094	87	91882											
GLTSCR1	29998	broad.mit.edu	37	chr19	48205190	48205190	+	Frame_Shift_Del	DEL	C	C	-																															acgtggggggccctggcgcgCcggaggggacgcccgcaggc																										TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:48205190delC	ENST00000396720.3	+	15	4395	c.4201delC	c.(4201-4203)cgfs	p.P1401fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1401							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTGGCGCGCCGGAGGGGAC	0.791													2	4	---	---	---	---					-	48205190	C	-	48205190	7	5	478	1	0	1	0	1	0	0	0	0	6525	739	26	0	4251	0	GLTSCR1	19	48205190	Frame_Shift_Del	DEL	C	TCGA-QK-A6V9-01A-11D-A34J-08	7122301	48205190	10923793	88	91883											
IL4I1	259307	broad.mit.edu	37	chr19	50399114	50399114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttggcggccaccagcccGgccacaccagcgccaaccac	9	2	9	21	3	0	0	0	0	0	0	0	0	0	0	8	3	3	0	8	3	1	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:50399114G>A	ENST00000595948.1	-	5	896	c.276C>T	c.(274-276)gcC>gcT	p.A92A	IL4I1_ENST00000341114.3_Silent_p.A92A|IL4I1_ENST00000391826.2_Silent_p.A70A	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	70						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCACCAGCCCGGCCACACCAG	0.627													56	242					0	0	0	0	A	50399114	G	A	50399114	2	1	478	1	0	0	0	0	0	0	0	1	7750	1103	39	1		1	IL4I1	19	50399114	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	2193924	50399114	8729869	89	91884											
TFPT	29844	broad.mit.edu	37	chr19	54617896	54617896	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgctggcgccgccgccGaccccgggctgcctcttcct	1	8	11	21	6	1	0	0	0	1	0	3	1	3	0	8	2	1	2	8	2	0	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:54617896G>T	ENST00000391759.1	-	2	613	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	TFPT_ENST00000391757.1_Silent_p.R70R|TFPT_ENST00000391758.1_Silent_p.R61R	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	70					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CGCCGCCGCCGACCCCGGGCT	0.647			T	TCF3	pre-B ALL								24	197					4.4004e-07	4.43801e-07	1	0	T	54617896	G	T	54617896	2	4	478	1	0	0	0	0	0	0	0	1	15904	1057	37	3		3	TFPT	19	54617896	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	4218782	54617896	4511087	90	91885											
NKX2-4	644524	broad.mit.edu	37	chr20	21376601	21376601	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgccgccgctgtacTccccggcggccgcgtccagg	4	4	14	19	7	0	0	0	0	0	0	2	1	2	1	7	4	1	2	7	4	1	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:21376601T>A	ENST00000351817.4	-	2	1641	c.1013A>T	c.(1012-1014)gAg>gTg	p.E338V		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	338					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						GCCGCTGTACTccccggcggc	0.766													6	39					0	0	0	0	A	21376601	T	A	21376601	3	1	478	1	0	0	0	0	1	0	0	0	10522	1551	54	5	55	5	NKX2-4	20	21376601	Missense_Mutation	SNP	T	TCGA-QK-A6V9-01A-11D-A34J-08		21376601	41648919	91	91886											
CBFA2T2	9139	broad.mit.edu	37	chr20	32211032	32211032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgctcaacacaagcattGcatcgcctgctgactcgtca	9	11	7	14	2	3	1	2	1	1	0	5	1	3	1	1	0	5	4	1	0	2	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:32211032G>A	ENST00000346541.3	+	6	1186	c.649G>A	c.(649-651)Gca>Aca	p.A217T	CBFA2T2_ENST00000342704.5_Missense_Mutation_p.A208T|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.A227T|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.A188T|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.A188T|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.A217T|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.A188T	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	217						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CACAAGCATTGCATCGCCTGC	0.597													21	130					0	0	0	0	A	32211032	G	A	32211032	3	1	478	1	0	0	0	0	1	0	0	0	2722	1319	46	4	705	4	CBFA2T2	20	32211032	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	10834431	32211032	30814488	92	91887											
PHF20	51230	broad.mit.edu	37	chr20	34459693	34459693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcaatgggagaaaacacGatgaaaacagaaccgacttc	18	5	8	10	2	1	3	1	1	0	2	2	6	1	3	2	1	3	0	2	1	6	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:34459693G>A	ENST00000374012.3	+	9	1353	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAGAAAACACGATGAAAACAG	0.453													57	209					0	0	0	0	A	34459693	G	A	34459693	2	1	478	1	0	0	0	0	0	0	0	1	11903	1045	37	1		1	PHF20	20	34459693	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	2248661	34459693	28565827	93	91888											
LPIN3	64900	broad.mit.edu	37	chr20	39985680	39985680	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccctttgtctggcctcagCggcgcctgaacctgcaagaa	7	8	10	16	2	2	2	1	1	1	1	2	2	2	2	5	2	3	1	5	2	3	1			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:39985680C>T	ENST00000373257.3	+	15	1895	c.1803_splice	c.e15-1	p.R602_splice		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTGGCCTCAGCGGCGCCTGAA	0.612													12	71					0	0	0	0	T	39985680	C	T	39985680	5	4	478	1	0	0	0	0	0	0	1	0	8984	782	27	1	1858	1	LPIN3	20	39985680	Splice_Site	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	5525987	39985680	23039840	94	91889											
CDH26	60437	broad.mit.edu	37	chr20	58563978	58563978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttggattatgagactcGcccagcgcaaagcctcatca	10	9	9	13	2	2	1	2	1	0	1	3	3	2	2	3	1	2	1	3	1	2	2	rs148034325		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:58563978G>A	ENST00000348616.4	+	9	1343	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	CDH26_ENST00000244047.5_Missense_Mutation_p.R348H	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	348	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TATGAGACTCGCCCAGCGCAA	0.567													4	90					0	0	0	0	A	58563978	G	A	58563978	3	1	478	1	0	0	0	0	1	0	0	0	3139	1087	38	1	1077	1	CDH26	20	58563978	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	18578298	58563978	4461542	95	91890											
PATZ1	23598	broad.mit.edu	37	chr22	31740796	31740796	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggcggccccggcctcGcttgccagtcaggggagggg	3	6	18	14	3	1	0	1	0	0	0	2	1	1	1	5	7	1	1	5	7	0	2			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr22:31740796G>A	ENST00000266269.5	-	1	1422	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PATZ1_ENST00000351933.4_Nonsense_Mutation_p.R265*|PATZ1_ENST00000215919.3_Nonsense_Mutation_p.R265*|PATZ1_ENST00000405309.3_Nonsense_Mutation_p.R265*	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	265					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCCCGGCCTCGCTTGCCAGTC	0.657													10	19					0	0	0	0	A	31740796	G	A	31740796	4	1	478	1	0	0	0	0	0	1	0	0	11547	1095	38	1	1573	1	PATZ1	22	31740796	Nonsense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08		31740796	19563770	96	91891											
IRS4	8471	broad.mit.edu	37	chrX	107976934	107976934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttagctttattctttggggGctcatgatctgaaggctttg	6	17	11	7	0	3	2	1	2	2	0	3	2	3	2	0	3	1	3	0	3	3	6			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:107976934G>T	ENST00000372129.2	-	1	2717	c.2641C>A	c.(2641-2643)Ccc>Acc	p.P881T		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	881						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCTTTGGGGGCTCATGATCT	0.443													117	184					1.34936e-44	1.46078e-44	1	0	T	107976934	G	T	107976934	3	4	478	1	0	0	0	0	1	0	0	0	7895	1203	42	4	1136	4	IRS4	23	107976934	Missense_Mutation	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08		107976934	47293626	97	91892											
RBMX2	51634	broad.mit.edu	37	chrX	129545370	129545370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtgtctaactatcgggctCctaaggactcagaagaaata	14	10	9	8	1	2	2	1	0	1	2	4	3	3	3	1	2	1	1	1	2	6	4			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:129545370C>T	ENST00000305536.6	+	5	416	c.352C>T	c.(352-354)Cct>Tct	p.P118S	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	118							nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTATCGGGCTCCTAAGGACTC	0.493													84	35					0	0	0	0	T	129545370	C	T	129545370	3	4	478	1	0	0	0	0	1	0	0	0	13234	855	30	2	370	2	RBMX2	23	129545370	Missense_Mutation	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08	21568436	129545370	25725190	98	91893											
BCAP31	10134	broad.mit.edu	37	chrX	152968412	152968412	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttagtgctggccagctcGtcctttagcttctgcaggtc	4	14	11	12	1	1	0	0	0	1	0	4	0	2	0	2	2	5	5	2	2	2	4	rs141341467	byFrequency	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:152968412G>A	ENST00000458587.2	-	6	1209	c.780C>T	c.(778-780)gaC>gaT	p.D260D	BCAP31_ENST00000345046.6_Silent_p.D193D|BCAP31_ENST00000477175.1_Intron|BCAP31_ENST00000441714.1_Silent_p.D193D	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	193					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGCTCGTCCTTTAGCT	0.587													70	167					0	0	0	0	A	152968412	G	A	152968412	2	1	478	1	0	0	0	0	0	0	0	1	1351	1136	40	1		1	BCAP31	23	152968412	Silent	SNP	G	TCGA-QK-A6V9-01A-11D-A34J-08	23423042	152968412	2302148	99	91894											
TBL1Y	90665	broad.mit.edu	37	chrY	6938313	6938313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtccttcggggccaCgagtctgaggtgttcatttg	6	11	13	11	2	2	1	1	1	1	0	4	2	3	1	3	3	0	1	3	3	0	3			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrY:6938313C>T	ENST00000383032.1	+	9	1181	c.534C>T	c.(532-534)caC>caT	p.H178H	TBL1Y_ENST00000355162.2_Silent_p.H178H|TBL1Y_ENST00000346432.3_Silent_p.H178H	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	178					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TTCGGGGCCACGAGTCTGAGG	0.512													27	22					0	0	0	0	T	6938313	C	T	6938313	2	4	478	1	0	0	0	0	0	0	0	1	15735	535	19	1		1	TBL1Y	24	6938313	Silent	SNP	C	TCGA-QK-A6V9-01A-11D-A34J-08		6938313	52435253	100	91895											
PLEKHN1	84069	broad.mit.edu	37	chr1	907526	907526	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccgctccttcctgatTgaaggtagggccctgaccct	7	10	10	14	1	0	4	0	3	0	1	3	4	3	4	5	2	0	2	5	2	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:907526T>C	ENST00000379409.2	+	8	1047	c.1017T>C	c.(1015-1017)atT>atC	p.I339I	PLEKHN1_ENST00000379407.2_Silent_p.I299I|PLEKHN1_ENST00000379410.3_Silent_p.I287I			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	339	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCTTCCTGATTGAAGGTAGGG	0.667													18	47					0	0	0	0	C	907526	T	C	907526	2	2	479	1	0	0	0	0	0	0	0	1	12155	1800	63	5		5	PLEKHN1	1	907526	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08		907526	248343095	1	91896											
B3GALT6	126792	broad.mit.edu	37	chr1	1168240	1168240	+	Frame_Shift_Del	DEL	G	G	-																															ggccgcggccgcgtcaagccGggggggcgctggcgcgaggc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:1168240delG	ENST00000379198.2	+	1	612	c.582delG	c.(580-582)ccfs	p.P194fs		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	194					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGTCAAGCCGGGGGGGCGCT	0.771													4	7	---	---	---	---					-	1168240	G	-	1168240	7	5	479	1	0	1	0	1	0	0	0	0	1255	1103	39	0	584	0	B3GALT6	1	1168240	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	260714	1168240	248082381	2	91897											
KCNAB2	8514	broad.mit.edu	37	chr1	6101896	6101896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgtccgaagtactcGgtatgggagtcccaaaagac	11	9	11	10	2	0	1	0	0	0	1	3	3	2	2	2	2	2	3	2	2	5	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6101896G>T	ENST00000164247.1	+	3	647	c.83G>T	c.(82-84)cGg>cTg	p.R28L	KCNAB2_ENST00000378087.3_Missense_Mutation_p.R28L|KCNAB2_ENST00000378111.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000341524.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378092.1_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R28L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	28						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGTACTCGGTATGGGAGT	0.517											OREG0013028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	106					4.3949e-29	5.44585e-29	1	0	T	6101896	G	T	6101896	3	4	479	1	0	0	0	0	1	0	0	0	8063	1116	39	3	89	3	KCNAB2	1	6101896	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4933656	6101896	243148725	3	91898											
ESPN	83715	broad.mit.edu	37	chr1	6488424	6488424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccctgcctatccactacGctgccgccaaaggagacttc	8	7	9	17	3	0	1	0	0	0	1	2	2	1	1	5	1	3	1	5	1	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6488424G>A	ENST00000377828.1	+	2	601	c.433G>A	c.(433-435)Gct>Act	p.A145T		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	145					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TATCCACTACGCTGCCGCCAA	0.652													36	35					0	0	0	0	A	6488424	G	A	6488424	3	1	479	1	0	0	0	0	1	0	0	0	5292	1087	38	1	439	1	ESPN	1	6488424	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	386528	6488424	242762197	4	91899											
PLEKHG5	57449	broad.mit.edu	37	chr1	6528321	6528321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaggggtgcggcggcGgagacggggcgagggtggag	6	3	25	7	5	0	1	0	0	0	1	0	5	0	3	0	10	1	0	0	10	0	0	rs150666859		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6528321G>A	ENST00000377748.1	-	21	3303	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R915C|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R896C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R859C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R928C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R938C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377740.3_Intron	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	915					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCGGCGGCGGAGACGGGGC	0.677													15	8					0	0	0	0	A	6528321	G	A	6528321	3	1	479	1	0	0	0	0	1	0	0	0	12145	1116	39	1	453	1	PLEKHG5	1	6528321	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	39897	6528321	242722300	5	91900											
ENO1	2023	broad.mit.edu	37	chr1	8930527	8930527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttgctaaccagggcaGgcgcaatagttttattgatg	10	12	10	9	1	0	1	0	1	0	0	0	1	0	1	2	2	3	4	2	2	5	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:8930527G>T	ENST00000234590.4	-	4	343	c.224C>A	c.(223-225)cCt>cAt	p.P75H		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	75					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AACCAGGGCAGGCGCAATAGT	0.468													6	57					1	1	1	0	T	8930527	G	T	8930527	3	4	479	1	0	0	0	0	1	0	0	0	5159	1000	35	4	1116	4	ENO1	1	8930527	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2402206	8930527	240320094	6	91901											
MASP2	10747	broad.mit.edu	37	chr1	11090928	11090928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagatcatcaggagggcCacagtcaacaactaagaaag	16	5	12	8	0	3	2	3	0	0	2	3	3	3	3	1	3	2	1	1	3	5	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:11090928C>T	ENST00000400897.3	-	9	1114	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	367	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCAGGAGGGCCACAGTCAACA	0.498													11	33					0	0	0	0	T	11090928	C	T	11090928	3	4	479	1	0	0	0	0	1	0	0	0	9392	594	21	4	973	4	MASP2	1	11090928	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2160401	11090928	238159693	7	91902											
VPS13D	55187	broad.mit.edu	37	chr1	12409289	12409289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacacctcacttcttggCggctacaggcccggcccaaa	8	9	8	16	2	2	0	1	0	1	0	2	0	2	0	3	4	2	1	3	4	3	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:12409289C>T	ENST00000358136.3	+	46	9419	c.9289C>T	c.(9289-9291)Cgg>Tgg	p.R3097W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3072W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3096					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACTTCTTGGCGGCTACAGGC	0.488													66	86					0	0	0	0	T	12409289	C	T	12409289	3	4	479	1	0	0	0	0	1	0	0	0	17288	759	27	1	9467	1	VPS13D	1	12409289	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1318361	12409289	236841332	8	91903											
PRDM2	7799	broad.mit.edu	37	chr1	14106589	14106589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcatggaccgatgccGggctgacttccaaaaaatcc	13	6	10	12	2	0	1	0	1	0	0	2	3	2	2	4	2	3	3	4	2	4	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:14106589G>A	ENST00000235372.7	+	8	3155	c.2299G>A	c.(2299-2301)Ggg>Agg	p.G767R	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G566R|PRDM2_ENST00000311066.5_Missense_Mutation_p.G767R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.G566R|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	767						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GACCGATGCCGGGCTGACTTC	0.522													5	94					0	0	0	0	A	14106589	G	A	14106589	3	1	479	1	0	0	0	0	1	0	0	0	12538	1116	39	1	2325	1	PRDM2	1	14106589	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1697300	14106589	235144032	9	91904											
C1orf64	149563	broad.mit.edu	37	chr1	16332528	16332528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccgcatcaccaccccaagCccccagtcccaatcgagggc	11	3	7	20	2	1	0	1	0	0	0	3	1	2	0	7	1	2	1	7	1	3	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:16332528C>A	ENST00000329454.2	+	2	265	c.197C>A	c.(196-198)gCc>gAc	p.A66D		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	66										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCCAAGCCCCCAGTCCC	0.597													102	90					9.16707e-34	1.14338e-33	1	0	A	16332528	C	A	16332528	3	1	479	1	0	0	0	0	1	0	0	0	2074	739	26	4	203	4	C1orf64	1	16332528	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2225939	16332528	232918093	10	91905											
ATP13A2	23400	broad.mit.edu	37	chr1	17316491	17316491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtagcttgcagcctggTcaggatcctgggggcccagg	5	8	17	11	1	1	0	1	0	0	0	2	1	2	1	3	6	3	3	3	6	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:17316491T>C	ENST00000452699.1	-	22	2594	c.2405A>G	c.(2404-2406)gAc>gGc	p.D802G	ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000326735.8_Missense_Mutation_p.D807G|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	807					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCAGCCTGGTCAGGATCCTG	0.647													13	2					0	0	0	0	C	17316491	T	C	17316491	3	2	479	1	0	0	0	0	1	0	0	0	1128	1667	58	5	1390	5	ATP13A2	1	17316491	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	983963	17316491	231934130	11	91906											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17990994	17990994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcctgactgtggggccCgggcctgtccgcaccctgtt	2	10	15	14	2	0	1	0	1	0	0	1	1	1	1	5	3	1	2	5	3	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:17990994C>T	ENST00000361221.3	+	26	3072	c.2913C>T	c.(2911-2913)ccC>ccT	p.P971P	ARHGEF10L_ENST00000375415.1_Silent_p.P932P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.P932P|ARHGEF10L_ENST00000375408.3_Silent_p.P744P|ARHGEF10L_ENST00000167825.4_Silent_p.P674P|ARHGEF10L_ENST00000434513.1_Silent_p.P966P	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	971					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.P971P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGTGGGGCCCGGGCCTGTCC	0.692													7	20					0	0	0	0	T	17990994	C	T	17990994	2	4	479	1	0	0	0	0	0	0	0	1	897	639	23	1		1	ARHGEF10L	1	17990994	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	674503	17990994	231259627	12	91907											
NUDC	10726	broad.mit.edu	37	chr1	27269437	27269437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccagcggcggcacctcCgggtggggctcaaggggcag	7	4	17	13	3	1	0	1	0	0	0	3	0	3	0	3	7	1	3	3	7	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:27269437C>T	ENST00000321265.5	+	6	745	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	208	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCGGCACCTCCGGGTGGGGCT	0.597													23	59					0	0	0	0	T	27269437	C	T	27269437	3	4	479	1	0	0	0	0	1	0	0	0	10792	643	23	1	644	1	NUDC	1	27269437	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	9278443	27269437	221981184	13	91908											
AHDC1	27245	broad.mit.edu	37	chr1	27878049	27878049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcgtagaggggatggctgGgccgctccgacttggcgtgt	4	9	18	10	4	0	1	0	0	0	1	2	3	1	2	2	5	0	4	2	5	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:27878049G>T	ENST00000374011.2	-	6	1546	c.578C>A	c.(577-579)cCc>cAc	p.P193H	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.P193H	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	193	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGATGGCTGGGCCGCTCCGA	0.677													24	63					7.87624e-14	9.25662e-14	1	0	T	27878049	G	T	27878049	3	4	479	1	0	0	0	0	1	0	0	0	412	1232	43	4	4237	4	AHDC1	1	27878049	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	608612	27878049	221372572	14	91909											
ZSCAN20	7579	broad.mit.edu	37	chr1	33954220	33954220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccaatcacctaaatgcCgaggtggcaccacagccttt	10	9	7	15	1	1	0	1	0	0	0	2	1	2	0	5	2	2	1	5	2	3	3	rs146912787	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:33954220C>T	ENST00000361328.3	+	3	726	c.573C>T	c.(571-573)gcC>gcT	p.A191A	ZSCAN20_ENST00000373413.2_Silent_p.A191A|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	191					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACCTAAATGCCGAGGTGGCAC	0.557													10	31					0	0	0	0	T	33954220	C	T	33954220	2	4	479	1	0	0	0	0	0	0	0	1	18324	639	23	1		1	ZSCAN20	1	33954220	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	6076171	33954220	215296401	15	91910											
CSMD2	114784	broad.mit.edu	37	chr1	34312590	34312590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggctgggaggctggctcCggtgaacctgtgggaacagg	6	6	21	8	1	0	1	0	1	0	0	1	3	1	3	2	8	2	3	2	8	2	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:34312590C>T	ENST00000373381.4	-	6	1104	c.928G>A	c.(928-930)Gga>Aga	p.G310R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	270						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCTGGCTCCGGTGAACCTG	0.582													4	20					0	0	0	0	T	34312590	C	T	34312590	3	4	479	1	0	0	0	0	1	0	0	0	3977	661	23	1	9911	1	CSMD2	1	34312590	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	358370	34312590	214938031	16	91911											
CLSPN	63967	broad.mit.edu	37	chr1	36228057	36228057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctcaaatgaatggaccCcactctccaaagatggttct	11	11	6	13	0	3	2	1	1	2	1	5	3	4	3	4	2	0	1	4	2	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:36228057C>A	ENST00000251195.5	-	5	866	c.770G>T	c.(769-771)gGg>gTg	p.G257V	CLSPN_ENST00000520551.1_Missense_Mutation_p.G257V|CLSPN_ENST00000318121.3_Missense_Mutation_p.G257V|CLSPN_ENST00000373220.3_Missense_Mutation_p.G257V			Q9HAW4	CLSPN_HUMAN	claspin	257					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAATGGACCCCACTCTCCAA	0.393													22	56					1.10513e-12	1.29083e-12	1	0	A	36228057	C	A	36228057	3	1	479	1	0	0	0	0	1	0	0	0	3590	623	22	4	3333	4	CLSPN	1	36228057	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1915467	36228057	213022564	17	91912											
MRPS15	64960	broad.mit.edu	37	chr1	36921846	36921846	+	Frame_Shift_Del	DEL	G	G	-																															gggctcttcggtaatacagaGgggggaaggtgtactcaatt																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:36921846delG	ENST00000373116.5	-	7	739	c.578delC	c.(577-579)ctfs	p.P193fs	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	193					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTAATACAGAGGGGGGAAGGT	0.512													10	83	---	---	---	---					-	36921846	G	-	36921846	7	5	479	1	0	1	0	1	0	0	0	0	9895	1000	35	0	203	0	MRPS15	1	36921846	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	693789	36921846	212328775	18	91913											
HECTD3	79654	broad.mit.edu	37	chr1	45474374	45474374	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaacatcaatcccatcatCtgggggaaggggtcagagta	13	7	12	9	1	4	1	3	0	1	1	5	3	5	2	1	4	1	1	1	4	4	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:45474374C>A	ENST00000372172.4	-	8	1144		c.e8-1			NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3						proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ATCCCATCATCTGGGGGAAGG	0.552													57	121					4.96213e-28	6.13539e-28	1	0	A	45474374	C	A	45474374	5	1	479	1	0	0	0	0	0	0	1	0	7091	927	32	2	1569	2	HECTD3	1	45474374	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	8552528	45474374	203776247	19	91914											
RAD54L	8438	broad.mit.edu	37	chr1	46739344	46739344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtgacccgaagccgtaGcagtgacaaagtagtgctgg	10	6	16	9	3	0	2	0	2	0	0	0	3	0	2	2	3	3	4	2	3	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:46739344G>A	ENST00000371975.4	+	14	2209	c.1535G>A	c.(1534-1536)aGc>aAc	p.S512N	RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.S512N	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	512	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CGAAGCCGTAGCAGTGACAAA	0.547								Direct reversal of damage;Homologous recombination					7	16					0	0	0	0	A	46739344	G	A	46739344	3	1	479	1	0	0	0	0	1	0	0	0	13075	971	34	4	1589	4	RAD54L	1	46739344	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1264970	46739344	202511277	20	91915											
GLIS1	148979	broad.mit.edu	37	chr1	54060231	54060232	+	Frame_Shift_Ins	INS	-	-	C																															gccgggcccgcttggaagggINSccccccagatctcccgtcag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:54060231_54060232insC	ENST00000312233.2	-	3	910_911	c.344_345insG	c.(343-345)gccfs	p.A115fs		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	115					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTTGGAAGGGCCCCCCAGATC	0.649													17	62	---	---	---	---					C	54060232	-	C	54060231	7	5	479	1	0	1	1	0	0	0	0	0	6496	1190	42	0	1549	0	GLIS1	1	54060231	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	7320887	54060231	195190390	21	91916											
USP24	23358	broad.mit.edu	37	chr1	55545326	55545326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggtcgttgcttaaatatgCcaggagctttaggagaccaa	11	11	12	7	1	0	1	0	0	0	1	1	3	0	2	2	3	3	3	2	3	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:55545326C>T	ENST00000294383.6	-	60	7084	c.7085G>A	c.(7084-7086)gGc>gAc	p.G2362D	USP24_ENST00000407756.1_Missense_Mutation_p.G2202D	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2362					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTAAATATGCCAGGAGCTTT	0.458													11	92					0	0	0	0	T	55545326	C	T	55545326	3	4	479	1	0	0	0	0	1	0	0	0	17151	739	26	4	813	4	USP24	1	55545326	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1485095	55545326	193705295	22	91917											
USP24	23358	broad.mit.edu	37	chr1	55612663	55612663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccagatctccttggcaCgattccagcccagatacaga	11	8	7	15	1	1	3	0	0	1	3	4	4	3	3	4	1	2	1	4	1	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:55612663C>T	ENST00000294383.6	-	19	2188	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	USP24_ENST00000407756.1_Missense_Mutation_p.R570H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	730					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTCCTTGGCACGATTCCAGCC	0.383													6	38					0	0	0	0	T	55612663	C	T	55612663	3	4	479	1	0	0	0	0	1	0	0	0	17151	536	19	1	5873	1	USP24	1	55612663	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	67337	55612663	193637958	23	91918											
TCTEX1D1	200132	broad.mit.edu	37	chr1	67241982	67241982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcccaaacattttcctGtggtcaccgtcaatcatatt	9	14	5	13	1	3	0	3	0	0	0	6	0	6	0	4	1	1	0	4	1	3	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:67241982G>A	ENST00000282670.2	+	4	360	c.232G>A	c.(232-234)Gtg>Atg	p.V78M		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	78										large_intestine(2)|lung(10)|skin(1)	13						ACATTTTCCTGTGGTCACCGT	0.358													22	74					0	0	0	0	A	67241982	G	A	67241982	3	1	479	1	0	0	0	0	1	0	0	0	15813	1377	48	4	242	4	TCTEX1D1	1	67241982	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	11629319	67241982	182008639	24	91919											
ZRANB2	9406	broad.mit.edu	37	chr1	71536591	71536591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgagactttgagcgacttCgtctattagatttcttttta	9	18	7	7	3	2	3	0	1	2	2	4	5	2	3	0	0	1	0	0	0	3	8			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:71536591C>T	ENST00000370920.3	-	7	903	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R201Q	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	201	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TGAGCGACTTCGTCTATTAGA	0.403													66	49					0	0	0	0	T	71536591	C	T	71536591	3	4	479	1	0	0	0	0	1	0	0	0	18316	884	31	1	444	1	ZRANB2	1	71536591	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4294609	71536591	177714030	25	91920											
C1orf173	127254	broad.mit.edu	37	chr1	75038930	75038930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttctgtaaactcttctgCcaattctggctgctctgctg	5	18	7	11	0	5	0	0	0	5	0	5	0	5	0	1	1	4	4	1	1	3	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:75038930C>T	ENST00000326665.5	-	14	2682	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	822	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AACTCTTCTGCCAATTCTGGC	0.572													32	80					0	0	0	0	T	75038930	C	T	75038930	3	4	479	1	0	0	0	0	1	0	0	0	2033	739	26	4	2132	4	C1orf173	1	75038930	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3502339	75038930	174211691	26	91921											
COL24A1	255631	broad.mit.edu	37	chr1	86210351	86210351	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaaccaagaacttaccaTctgatactttttgttcacag	13	13	6	9	0	2	2	1	1	1	1	2	2	2	2	2	1	4	2	2	1	5	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:86210351T>C	ENST00000370571.2	-	57	5036	c.4670A>G	c.(4669-4671)gAt>gGt	p.D1557G	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1557	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAACTTACCATCTGATACTTT	0.358													11	134					0	0	0	0	C	86210351	T	C	86210351	3	2	479	1	0	0	0	0	1	0	0	0	3713	1435	50	5	490	5	COL24A1	1	86210351	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	11171421	86210351	163040270	27	91922											
TGFBR3	7049	broad.mit.edu	37	chr1	92200471	92200473	+	In_Frame_Del	DEL	AGG	AGG	-																															ttcttctgtttctgctgtcaAggagaagtttgctgatgaaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:92200471_92200473delAGG	ENST00000212355.4	-	5	893_895	c.428_430delCCT	c.(427-432)ttg>t	p.SL143del	TGFBR3_ENST00000370399.2_In_Frame_Del_p.SL143del|TGFBR3_ENST00000525962.1_In_Frame_Del_p.SL143del|TGFBR3_ENST00000468996.2_5'UTR	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	143					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTGCTGTCAAGGAGAAGTTTGC	0.438													88	90	---	---	---	---					-	92200473	AGG	-	92200471	7	5	479	1	0	1	0	1	0	0	0	0	15917	69	3	0	2177	0	TGFBR3	1	92200471	In_Frame_Del	DEL	AGG	TCGA-QK-A6VB-01A-12D-A34J-08	5990120	92200471	157050150	28	91923											
GSTM5	2949	broad.mit.edu	37	chr1	110254902	110254902	+	Translation_Start_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagccccgctccgctgaTgcctgtctgcagaatccgca	6	9	10	16	3	2	3	0	2	2	1	4	3	4	3	5	0	3	4	5	0	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:110254902T>G	ENST00000369812.5	+	0	39				GSTM5_ENST00000256593.3_De_novo_Start_OutOfFrame|GSTM5_ENST00000369813.1_De_novo_Start_InFrame			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GCTCCGCTGATGCCTGTCTGC	0.672													13	226					0	0	0	0	G	110254902	T	G	110254902	1	3	479	1	0	0	0	0	0	0	0	0	6891	1479	51	5		5	GSTM5	1	110254902	Translation_Start_Site	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	18054431	110254902	138995719	29	91924											
RBM15	64783	broad.mit.edu	37	chr1	110883949	110883949	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagagaccagcctaggaAgcgaaggctgcctgaggaga	13	3	15	10	1	0	3	0	1	0	2	0	7	0	4	3	3	4	2	3	3	3	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:110883949A>T	ENST00000369784.3	+	1	2822	c.1922A>T	c.(1921-1923)aAg>aTg	p.K641M	RBM15_ENST00000602849.1_Missense_Mutation_p.K641M|RBM15_ENST00000487146.2_Missense_Mutation_p.K641M	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	641	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			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)		CAGCCTAGGAAGCGAAGGCTG	0.597			T	MKL1	acute megakaryocytic leukemia								10	41					0	0	0	0	T	110883949	A	T	110883949	3	4	479	1	0	0	0	0	1	0	0	0	13198	72	3	5	1924	5	RBM15	1	110883949	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	629047	110883949	138366672	30	91925											
PHTF1	10745	broad.mit.edu	37	chr1	114242392	114242393	+	Frame_Shift_Ins	INS	-	-	T																															gctgttctttcttatttggcINStttttttccatcttaagata																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:114242392_114242393insT	ENST00000369604.1	-	17	2558_2559	c.2075_2076insA	c.(2074-2076)accfs	p.T692fs	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.T692fs|PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.T639fs|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.T647fs|PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.T639fs			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	692						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	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)		TCTTATTTGGCTTTTTTTCCAT	0.282													10	31	---	---	---	---					T	114242393	-	T	114242392	7	5	479	1	0	1	1	0	0	0	0	0	11934	796	28	0	224	0	PHTF1	1	114242392	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	3358443	114242392	135008229	31	91926											
RSBN1	54665	broad.mit.edu	37	chr1	114310991	114310991	+	Frame_Shift_Del	DEL	T	T	-																															tccgaggtaggtactggagaTtttttatttcattcattgat																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:114310991delT	ENST00000261441.5	-	5	1742	c.1679delA	c.(1678-1680)atfs	p.N560fs		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	560						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTGGAGATTTTTTATTTC	0.408													58	48	---	---	---	---					-	114310991	T	-	114310991	7	5	479	1	0	1	0	1	0	0	0	0	13781	1493	52	0	741	0	RSBN1	1	114310991	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	68599	114310991	134939630	32	91927											
PDE4DIP	9659	broad.mit.edu	37	chr1	144915504	144915504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgaatctccatttcatGttccagcacttgtttatttc	7	18	5	11	0	2	1	1	1	1	0	5	1	3	1	3	0	1	3	3	0	2	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:144915504G>C	ENST00000529945.1	-	10	2849	c.2410C>G	c.(2410-2412)Cat>Gat	p.H804D	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H428D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H778D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H778D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H804D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H707D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	641					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCATTTCATGTTCCAGCACT	0.488			T	PDGFRB	MPD								18	295					0	0	0	0	C	144915504	G	C	144915504	3	2	479	1	0	0	0	0	1	0	0	0	11714	1377	48	4	5253	4	PDE4DIP	1	144915504	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	30604513	144915504	104335117	33	91928											
BCL9	607	broad.mit.edu	37	chr1	147092657	147092659	+	In_Frame_Del	DEL	CAG	CAG	-																															ggcaggcatgctggcgggccCagctgctgctgcttccatta																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:147092657_147092659delCAG	ENST00000234739.3	+	8	3436_3438	c.2696_2698delCAG	c.(2695-2700)cct>c	p.PA899del		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	899	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGGCGGGCCCAGCTGCTGCTGC	0.626			T	"IGH@, IGL@"	B-ALL								13	88	---	---	---	---					-	147092659	CAG	-	147092657	7	5	479	1	0	1	0	1	0	0	0	0	1385	594	21	0	2714	0	BCL9	1	147092657	In_Frame_Del	DEL	CAG	TCGA-QK-A6VB-01A-12D-A34J-08	2177153	147092657	102157964	34	91929											
FLG	2312	broad.mit.edu	37	chr1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctgagtgcccatgggagGcatcagaccttccctgggat	8	9	12	12	0	1	2	1	1	0	1	3	4	3	4	4	3	1	1	4	3	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:152279854G>A	ENST00000368799.1	-	3	7543	c.7508C>T	c.(7507-7509)gCc>gTc	p.A2503V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547									Ichthyosis				144	542					0	0	0	0	A	152279854	G	A	152279854	3	1	479	1	0	0	0	0	1	0	0	0	5967	1203	42	4	4681	4	FLG	1	152279854	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5187197	152279854	96970767	35	91930											
FLG	2312	broad.mit.edu	37	chr1	152284923	152284923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccttgtcttactccagtGctgggccctgtccatccatg	5	13	9	14	0	1	0	0	0	1	0	5	1	5	0	5	1	2	1	5	1	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:152284923G>A	ENST00000368799.1	-	3	2474	c.2439C>T	c.(2437-2439)agC>agT	p.S813S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	813	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACTCCAGTGCTGGGCCCTG	0.572									Ichthyosis				7	476					0	0	0	0	A	152284923	G	A	152284923	2	1	479	1	0	0	0	0	0	0	0	1	5967	1310	46	4		4	FLG	1	152284923	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5069	152284923	96965698	36	91931											
PGLYRP4	57115	broad.mit.edu	37	chr1	153303392	153303392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggatcaggtcttgggctgCctctagtgctgcagcattgg	5	12	14	10	0	3	0	1	0	2	0	3	1	3	1	1	4	4	4	1	4	1	3	rs146118434	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153303392C>T	ENST00000368739.3	-	9	1319	c.961G>A	c.(961-963)Gca>Aca	p.A321T	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.A325T			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	325					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTGGGCTGCCTCTAGTGCT	0.542													31	121					0	0	0	0	T	153303392	C	T	153303392	3	4	479	1	0	0	0	0	1	0	0	0	11868	739	26	4	152	4	PGLYRP4	1	153303392	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1018469	153303392	95947229	37	91932											
ILF2	3608	broad.mit.edu	37	chr1	153642700	153642700	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacgaccacggcctctGtcacccctagaaatgcagat	11	6	7	17	2	2	2	1	0	1	2	2	3	2	2	6	1	1	1	6	1	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153642700G>A	ENST00000361891.4	-	2	137	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ILF2_ENST00000368681.1_Silent_p.D4D	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	4					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACGGCCTCTGTCACCCCTAG	0.512													20	67					0	0	0	0	A	153642700	G	A	153642700	2	1	479	1	0	0	0	0	0	0	0	1	7764	1368	48	4		4	ILF2	1	153642700	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	339308	153642700	95607921	38	91933											
DENND4B	9909	broad.mit.edu	37	chr1	153903541	153903541	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagccaaggagatggggcCtgggggagccaagatagtgg	10	6	19	6	0	0	2	0	0	0	2	0	4	0	3	3	6	2	1	3	6	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153903541C>A	ENST00000361217.4	-	25	4415		c.e25-1		DENND4B_ENST00000474386.1_Splice_Site	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B											NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGATGGGGCCTGGGGGAGCC	0.567													4	24					0.00909568	0.0092416	1	0	A	153903541	C	A	153903541	5	1	479	1	0	0	0	0	0	0	1	0	4471	695	24	4	510	4	DENND4B	1	153903541	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	260841	153903541	95347080	39	91934											
DCST1	149095	broad.mit.edu	37	chr1	155023188	155023188	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggcacccgagacgccCgagtcctacgtgtgccggac	7	5	13	16	5	0	1	0	0	0	1	1	4	1	2	5	2	3	1	5	2	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:155023188C>T	ENST00000295542.1	+	17	2061	c.1965C>T	c.(1963-1965)ccC>ccT	p.P655P	DCST1_ENST00000423025.2_Silent_p.P630P	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	655						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCGAGACGCCCGAGTCCTACG	0.726											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	18					0	0	0	0	T	155023188	C	T	155023188	2	4	479	1	0	0	0	0	0	0	0	1	4334	639	23	1		1	DCST1	1	155023188	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1119647	155023188	94227433	40	91935											
TMEM79	84283	broad.mit.edu	37	chr1	156261316	156261316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccggagcgcatgctcactgCcaccgagagccgcctggact	7	5	13	16	4	1	1	1	0	0	1	1	4	1	3	5	2	4	2	5	2	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:156261316C>T	ENST00000405535.2	+	4	1283	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.A371V|TMEM79_ENST00000357501.2_Silent_p.C132C	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	371						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					ATGCTCACTGCCACCGAGAGC	0.672													12	153					0	0	0	0	T	156261316	C	T	156261316	3	4	479	1	0	0	0	0	1	0	0	0	16297	739	26	4	1122	4	TMEM79	1	156261316	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1238128	156261316	92989305	41	91936											
COPA	1314	broad.mit.edu	37	chr1	160260441	160260441	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctggtaggcatctgtGggattcttctcacaggcaga	8	12	13	8	0	3	2	1	1	3	1	4	3	3	3	0	4	1	4	0	4	1	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:160260441G>A	ENST00000241704.7	-	32	3685	c.3456C>T	c.(3454-3456)ccC>ccT	p.P1152P	COPA_ENST00000368069.3_Silent_p.P1161P	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1152					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCATCTGTGGGATTCTTCT	0.488													38	218					0	0	0	0	A	160260441	G	A	160260441	2	1	479	1	0	0	0	0	0	0	0	1	3757	1335	47	4		4	COPA	1	160260441	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3999125	160260441	88990180	42	91937											
NOS1AP	9722	broad.mit.edu	37	chr1	162124229	162124229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgtgccaaggcccaacaGcagggtggagatcgtggctg	9	5	17	10	2	0	1	0	0	0	1	1	3	0	2	2	5	3	2	2	5	2	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:162124229G>A	ENST00000361897.5	+	2	542	c.140G>A	c.(139-141)aGc>aAc	p.S47N	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S47N	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	47	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGCCCAACAGCAGGGTGGAG	0.592													24	25					0	0	0	0	A	162124229	G	A	162124229	3	1	479	1	0	0	0	0	1	0	0	0	10612	971	34	4	146	4	NOS1AP	1	162124229	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1863788	162124229	87126392	43	91938											
MAEL	84944	broad.mit.edu	37	chr1	166990329	166990329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttacttacagaagctaaGggttgggagttcaggattct	10	13	12	6	0	2	1	1	0	1	1	2	3	2	3	0	3	3	4	0	3	4	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:166990329G>T	ENST00000367872.4	+	11	1293	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MAEL_ENST00000367870.2_Missense_Mutation_p.R319M|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	350					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CAGAAGCTAAGGGTTGGGAGT	0.338													21	75					2.98393e-07	3.25832e-07	1	0	T	166990329	G	T	166990329	3	4	479	1	0	0	0	0	1	0	0	0	9219	1000	35	4	1091	4	MAEL	1	166990329	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4866100	166990329	82260292	44	91939											
F5	2153	broad.mit.edu	37	chr1	169513569	169513569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgtcacagattctccaCgcatggggaagagggtcaag	11	7	13	10	2	3	3	2	1	1	2	4	4	3	4	2	3	0	1	2	3	2	1	rs140530655	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:169513569C>T	ENST00000367796.3	-	12	2156	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	F5_ENST00000367797.3_Missense_Mutation_p.R647H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	647	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGATTCTCCACGCATGGGGAA	0.473													27	49					0	0	0	0	T	169513569	C	T	169513569	3	4	479	1	0	0	0	0	1	0	0	0	5386	536	19	1	4790	1	F5	1	169513569	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2523240	169513569	79737052	45	91940											
PRRX1	5396	broad.mit.edu	37	chr1	170689011	170689011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgagaagaccttgcccGccgggtgaacctcaccgagg	8	6	14	13	4	1	3	1	1	0	2	1	5	1	3	5	2	3	0	5	2	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:170689011G>A	ENST00000239461.6	+	2	699	c.386G>A	c.(385-387)cGc>cAc	p.R129H	PRRX1_ENST00000497230.2_Missense_Mutation_p.R129H|PRRX1_ENST00000367760.3_Missense_Mutation_p.R129H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	129						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACCTTGCCCGCCGGGTGAAC	0.537													34	44					0	0	0	0	A	170689011	G	A	170689011	3	1	479	1	0	0	0	0	1	0	0	0	12691	1087	38	1	392	1	PRRX1	1	170689011	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1175442	170689011	78561610	46	91941											
RNASEL	6041	broad.mit.edu	37	chr1	182555660	182555660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgcgaggataaaaggCgtggccccattcttcttcct	8	11	10	12	3	2	0	0	0	2	0	4	2	3	1	3	3	1	1	3	3	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:182555660C>T	ENST00000367559.3	-	2	535	c.282G>A	c.(280-282)acG>acA	p.T94T	RNASEL_ENST00000444138.1_Silent_p.T94T|RNASEL_ENST00000539397.1_Silent_p.T94T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	94					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGATAAAAGGCGTGGCCCCAT	0.493													27	31					0	0	0	0	T	182555660	C	T	182555660	2	4	479	1	0	0	0	0	0	0	0	1	13501	755	27	1		1	RNASEL	1	182555660	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	11866649	182555660	66694961	47	91942											
PRG4	10216	broad.mit.edu	37	chr1	186276124	186276124	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcctgcacccaccaccAccaagtctgcacccaccact	11	4	6	20	0	1	0	0	0	1	0	1	1	1	1	7	1	3	2	7	1	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:186276124A>C	ENST00000445192.2	+	7	1318	c.1273A>C	c.(1273-1275)Acc>Ccc	p.T425P	PRG4_ENST00000367486.3_Missense_Mutation_p.T382P|PRG4_ENST00000367485.4_Missense_Mutation_p.T332P|PRG4_ENST00000367483.4_Missense_Mutation_p.T384P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	425	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGTCTGC	0.657													21	112					0	0	0	0	C	186276124	A	C	186276124	3	2	479	1	0	0	0	0	1	0	0	0	12561	159	6	5	1295	5	PRG4	1	186276124	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	3720464	186276124	62974497	48	91943											
ASPM	259266	broad.mit.edu	37	chr1	197094316	197094316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgtgtgagaagttccatgGttcgcctggcagtaataaaa	11	12	11	7	1	1	1	0	1	1	1	3	2	2	1	2	2	0	4	2	2	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:197094316G>A	ENST00000367409.4	-	11	3198	c.2942C>T	c.(2941-2943)aCc>aTc	p.T981I	ASPM_ENST00000367408.1_Missense_Mutation_p.T231I|ASPM_ENST00000294732.7_Missense_Mutation_p.T981I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	981	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTTCCATGGTTCGCCTGGC	0.368													19	103					0	0	0	0	A	197094316	G	A	197094316	3	1	479	1	0	0	0	0	1	0	0	0	1060	1261	44	4	7563	4	ASPM	1	197094316	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	10818192	197094316	52156305	49	91944											
PTPRC	5788	broad.mit.edu	37	chr1	198718660	198718660	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaccaagcaaatacatCaatgcatcttttataatggt	16	11	7	7	0	2	0	1	0	1	0	2	2	2	1	1	2	4	2	1	2	7	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:198718660C>A	ENST00000367376.2	+	28	3219	c.3048C>A	c.(3046-3048)atC>atA	p.I1016I	PTPRC_ENST00000352140.3_Silent_p.I968I|PTPRC_ENST00000348564.6_Silent_p.I857I|PTPRC_ENST00000594404.1_Silent_p.I855I|PTPRC_ENST00000442510.2_Silent_p.I1018I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1016	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCAAATACATCAATGCATCTT	0.348													7	67					0.00307968	0.00319167	1	0	A	198718660	C	A	198718660	2	1	479	1	0	0	0	0	0	0	0	1	12879	816	29	2		2	PTPRC	1	198718660	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1624344	198718660	50531961	50	91945											
LAD1	3898	broad.mit.edu	37	chr1	201352259	201352259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagttccttctcaaagagGtggcgcttgctggctacacc	7	10	11	13	1	1	1	1	0	1	1	3	1	2	1	3	3	2	4	3	3	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:201352259G>A	ENST00000391967.2	-	7	1630	c.1329C>T	c.(1327-1329)caC>caT	p.H443H	LAD1_ENST00000488842.1_5'UTR|LAD1_ENST00000367313.3_Silent_p.H457H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	443						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCTCAAAGAGGTGGCGCTTGC	0.592													50	171					0	0	0	0	A	201352259	G	A	201352259	2	1	479	1	0	0	0	0	0	0	0	1	8652	1252	44	4		4	LAD1	1	201352259	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2633599	201352259	47898362	51	91946											
OPTC	26254	broad.mit.edu	37	chr1	203466160	203466160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccgccaagagcactaCggctccagggacaccctcgt	9	5	10	17	3	0	1	0	0	0	1	3	2	2	2	4	2	2	2	4	2	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:203466160C>T	ENST00000367222.2	+	3	403	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	96	Ser/Thr-rich.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAGCACTACGGCTCCAGGG	0.557													36	52					0	0	0	0	T	203466160	C	T	203466160	3	4	479	1	0	0	0	0	1	0	0	0	10959	536	19	1	293	1	OPTC	1	203466160	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2113901	203466160	45784461	52	91947											
PPP1R15B	84919	broad.mit.edu	37	chr1	204380267	204380267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagccatctggtcggaaaCattccaccgaaaagttggct	11	10	9	11	2	2	0	0	0	2	0	4	2	3	1	3	3	2	2	3	3	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:204380267C>T	ENST00000367188.4	-	1	652	c.273G>A	c.(271-273)atG>atA	p.M91I	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	91					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TGGTCGGAAACATTCCACCGA	0.562													5	173					0	0	0	0	T	204380267	C	T	204380267	3	4	479	1	0	0	0	0	1	0	0	0	12440	478	17	4	1876	4	PPP1R15B	1	204380267	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	914107	204380267	44870354	53	91948											
AVPR1B	553	broad.mit.edu	37	chr1	206224854	206224854	+	Frame_Shift_Del	DEL	C	C	-																															cgctacctggctgtctgtcaCcccctgcgcagcctccagca																								rs146412534	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:206224854delC	ENST00000367126.4	+	1	879	c.414delC	c.(412-414)cafs	p.H138fs		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	138					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGTCTGTCACCCCCTGCGCA	0.622													13	89	---	---	---	---					-	206224854	C	-	206224854	7	5	479	1	0	1	0	1	0	0	0	0	1236	506	18	0	416	0	AVPR1B	1	206224854	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	1844587	206224854	43025767	54	91949											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414146	213414146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacttgcaaaagttcacCtgcagcagccaacttctagt	12	10	6	13	0	2	0	1	0	1	0	2	0	2	0	2	0	6	4	2	0	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:213414146C>A	ENST00000366960.3	+	11	1477	c.1327C>A	c.(1327-1329)Ctg>Atg	p.L443M	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L146M|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L231M|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L431M	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	443	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAAAGTTCACCTGCAGCAGCC	0.423													4	159					0.00909568	0.0092416	1	0	A	213414146	C	A	213414146	3	1	479	1	0	0	0	0	1	0	0	0	13743	680	24	4	1369	4	RPS6KC1	1	213414146	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	7189292	213414146	35836475	55	91950											
MARK1	4139	broad.mit.edu	37	chr1	220754423	220754423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaggttgctgtgaaaataaTagacaaaactcagctaaatc	17	11	7	6	0	1	2	1	1	0	1	2	2	1	2	0	1	3	3	0	1	9	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:220754423T>C	ENST00000366918.4	+	3	869	c.272T>C	c.(271-273)aTa>aCa	p.I91T	MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.I91T|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	91	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GTGAAAATAATAGACAAAACT	0.234													16	55					0	0	0	0	C	220754423	T	C	220754423	3	2	479	1	0	0	0	0	1	0	0	0	9381	1406	49	5	282	5	MARK1	1	220754423	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	7340277	220754423	28496198	56	91951											
ENAH	55740	broad.mit.edu	37	chr1	225702506	225702506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggagtggaggaggtggaGggggccctgggggaggaggg	7	4	27	3	0	0	0	0	0	0	0	0	6	0	6	1	11	0	0	1	11	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:225702506G>T	ENST00000366844.2	-	7	1461	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	ENAH_ENST00000366843.2_Missense_Mutation_p.P337H|ENAH_ENST00000284563.6_Missense_Mutation_p.P584H	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	337	Pro-rich.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		aggaggtggagggggccctgg	0.672													5	20					0.00116845	0.00121758	1	0	T	225702506	G	T	225702506	3	4	479	1	0	0	0	0	1	0	0	0	5149	1000	35	4	801	4	ENAH	1	225702506	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4948083	225702506	23548115	57	91952											
WNT9A	7483	broad.mit.edu	37	chr1	228109526	228109526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggggagatggcacctGcctcgccggcagcttcattg	5	9	16	11	2	1	1	1	0	0	1	2	2	1	1	3	5	2	3	3	5	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:228109526G>A	ENST00000272164.5	-	4	801	c.791C>T	c.(790-792)gCa>gTa	p.A264V	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	264					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GATGGCACCTGCCTCGCCGGC	0.662													30	77					0	0	0	0	A	228109526	G	A	228109526	3	1	479	1	0	0	0	0	1	0	0	0	17494	1319	46	4	310	4	WNT9A	1	228109526	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2407020	228109526	21141095	58	91953											
ERO1LB	56605	broad.mit.edu	37	chr1	236388426	236388426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggatttctcatcaaagtGcatgggaaaggacctgataa	14	10	10	7	0	2	1	2	1	1	0	3	4	2	4	1	3	1	1	1	3	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:236388426G>A	ENST00000354619.5	-	13	1267	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	356					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCATCAAAGTGCATGGGAAAG	0.388													26	114					0	0	0	0	A	236388426	G	A	236388426	3	1	479	1	0	0	0	0	1	0	0	0	5278	1319	46	4	353	4	ERO1LB	1	236388426	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	8278900	236388426	12862195	59	91954											
RYR2	6262	broad.mit.edu	37	chr1	237659941	237659941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcacctgcgagtgggctggGcttccactgaaggatattct	7	11	12	11	1	2	1	1	1	1	0	3	3	3	2	2	3	1	2	2	3	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:237659941G>A	ENST00000366574.2	+	20	2409	c.2092G>A	c.(2092-2094)Gct>Act	p.A698T	RYR2_ENST00000542537.1_Missense_Mutation_p.A682T|RYR2_ENST00000360064.6_Missense_Mutation_p.A696T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	698	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGGGCTGGGCTTCCACTGA	0.502													20	83					0	0	0	0	A	237659941	G	A	237659941	3	1	479	1	0	0	0	0	1	0	0	0	13854	1203	42	4	2170	4	RYR2	1	237659941	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1271515	237659941	11590680	60	91955											
FMN2	56776	broad.mit.edu	37	chr1	240370926	240370926	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctgccccctctaccCggagcgggaatacctcctcc	5	8	7	21	2	2	0	0	0	2	0	5	2	5	2	7	2	4	0	7	2	3	2	rs71170718		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:240370926C>A	ENST00000319653.9	+	5	3044	c.2814C>A	c.(2812-2814)ccC>ccA	p.P938P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	938	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGCGGGAA	0.697													50	51					4.17463e-26	5.13939e-26	1	0	A	240370926	C	A	240370926	2	1	479	1	0	0	0	0	0	0	0	1	5995	639	23	3		3	FMN2	1	240370926	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2710985	240370926	8879695	61	91956											
OR2W3	343171	broad.mit.edu	37	chr1	248059210	248059210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcctgttcctgggtctgGgtggtgtggagtgcctgctt	1	16	15	9	0	2	0	0	0	2	0	4	1	4	1	3	4	2	2	3	4	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:248059210G>T	ENST00000537741.1	+	3	579	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	OR2W3_ENST00000360358.3_Missense_Mutation_p.G108C			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGGTCTGGGTGGTGTGGA	0.567													45	73					1.06522e-23	1.30016e-23	1	0	T	248059210	G	T	248059210	3	4	479	1	0	0	0	0	1	0	0	0	11104	1232	43	4	324	4	OR2W3	1	248059210	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7688284	248059210	1191411	62	91957											
OR2T11	127077	broad.mit.edu	37	chr1	248789550	248789550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaaatgcccctatgaCgtccttgtttctgaggctgt	6	17	8	10	1	1	2	0	2	1	0	2	2	2	2	3	1	1	2	3	1	3	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:248789550C>T	ENST00000330803.2	-	1	941	c.880G>A	c.(880-882)Gtc>Atc	p.V294I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCCCTATGACGTCCTTGTTT	0.478													73	100					0	0	0	0	T	248789550	C	T	248789550	3	4	479	1	0	0	0	0	1	0	0	0	11089	536	19	1	74	1	OR2T11	1	248789550	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	730340	248789550	461071	63	91958											
ASAP2	8853	broad.mit.edu	37	chr2	9437559	9437559	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaaaggagttgacagcActtttcaaaaacctggtaag	15	11	8	7	0	1	1	1	1	0	0	1	2	1	2	1	2	3	3	1	2	5	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:9437559A>G	ENST00000281419.3	+	3	670	c.330A>G	c.(328-330)gcA>gcG	p.A110A	ASAP2_ENST00000315273.4_Silent_p.A110A	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	110					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGTTGACAGCACTTTTCAAAA	0.438													25	65					0	0	0	0	G	9437559	A	G	9437559	2	3	479	1	0	0	0	0	0	0	0	1	1015	146	6	5		5	ASAP2	2	9437559	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08		9437559	233761814	64	91959											
GRHL1	29841	broad.mit.edu	37	chr2	10102641	10102642	+	Frame_Shift_Ins	INS	-	-	T																															catgaattcagaggactatgINStttttgacagtgtttctggg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:10102641_10102642insT	ENST00000324907.9	+	5	863_864	c.727_728insT	c.(727-729)tttfs	p.F243fs	GRHL1_ENST00000405379.2_Frame_Shift_Ins_p.F243fs|GRHL1_ENST00000324883.5_Intron	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	243					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AGAGGACTATGTTTTTGACAGT	0.342													11	33	---	---	---	---					T	10102642	-	T	10102641	7	5	479	1	0	1	1	0	0	0	0	0	6813	1377	48	0	745	0	GRHL1	2	10102641	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	665082	10102641	233096732	65	91960											
ODC1	4953	broad.mit.edu	37	chr2	10580932	10580932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaagacacaggcagggtgCtggcatcctgttcctctact	9	9	10	13	0	1	1	0	0	1	1	3	1	3	1	2	3	2	4	2	3	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:10580932C>T	ENST00000234111.4	-	12	1814	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	ODC1_ENST00000405333.1_Missense_Mutation_p.S435N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	435					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AGGCAGGGTGCTGGCATCCTG	0.512													17	103					0	0	0	0	T	10580932	C	T	10580932	3	4	479	1	0	0	0	0	1	0	0	0	10896	797	28	4	85	4	ODC1	2	10580932	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	478291	10580932	232618441	66	91961											
NBAS	51594	broad.mit.edu	37	chr2	15514777	15514777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattcttcaagacatccaaCggcttggataagatctagct	14	11	7	9	1	3	2	1	0	2	2	4	3	4	3	1	2	2	2	1	2	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:15514777C>T	ENST00000281513.5	-	31	3683	c.3658G>A	c.(3658-3660)Gtt>Att	p.V1220I	NBAS_ENST00000441750.1_Missense_Mutation_p.V1100I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1220								p.V1220I(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGACATCCAACGGCTTGGATA	0.378													93	113					0	0	0	0	T	15514777	C	T	15514777	3	4	479	1	0	0	0	0	1	0	0	0	10256	536	19	1	3545	1	NBAS	2	15514777	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4933845	15514777	227684596	67	91962											
DPYSL5	56896	broad.mit.edu	37	chr2	27121417	27121417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcaagggaggcaaggTggtgaacgatgactgcaccc	11	6	13	11	1	2	2	2	2	0	0	2	4	2	3	2	4	2	2	2	4	3	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:27121417T>C	ENST00000288699.6	+	2	208	c.50T>C	c.(49-51)gTg>gCg	p.V17A	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V17A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	17					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGCAAGGTGGTGAACGAT	0.567													15	158					0	0	0	0	C	27121417	T	C	27121417	3	2	479	1	0	0	0	0	1	0	0	0	4786	1696	59	5	52	5	DPYSL5	2	27121417	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	11606640	27121417	216077956	68	91963											
ATL2	64225	broad.mit.edu	37	chr2	38537548	38537548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaacaattgtgtatgtgCttccttacattctgaagctc	11	14	8	8	0	1	2	0	1	1	1	3	3	2	2	1	0	4	3	1	0	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:38537548C>T	ENST00000378954.4	-	8	847	c.846G>A	c.(844-846)aaG>aaA	p.K282K	ATL2_ENST00000332337.4_Silent_p.K264K|ATL2_ENST00000402054.1_Silent_p.K111K|ATL2_ENST00000539122.1_Silent_p.K111K|ATL2_ENST00000452935.2_Silent_p.K264K|ATL2_ENST00000419554.2_Silent_p.K282K|ATL2_ENST00000406122.1_Silent_p.K111K|ATL2_ENST00000546051.1_Silent_p.K111K	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	282					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TGTGTATGTGCTTCCTTACAT	0.368													13	64					0	0	0	0	T	38537548	C	T	38537548	2	4	479	1	0	0	0	0	0	0	0	1	1111	796	28	4		4	ATL2	2	38537548	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	11416131	38537548	204661825	69	91964											
FANCL	55120	broad.mit.edu	37	chr2	58388752	58388752	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttgataagcataacaaaTtccacaatccatagtaaaat	20	10	4	7	0	0	1	0	1	0	0	2	1	2	1	2	0	2	3	2	0	8	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:58388752T>C	ENST00000402135.3	-	12	976	c.940A>G	c.(940-942)Att>Gtt	p.I314V	FANCL_ENST00000403295.3_Missense_Mutation_p.I281V|FANCL_ENST00000233741.4_Missense_Mutation_p.I309V|FANCL_ENST00000403676.1_Missense_Mutation_p.I192V	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	309					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GCATAACAAATTCCACAATCC	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				30	54					0	0	0	0	C	58388752	T	C	58388752	3	2	479	1	0	0	0	0	1	0	0	0	5715	1493	52	5	214	5	FANCL	2	58388752	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	19851204	58388752	184810621	70	91965											
SNRNP27	11017	broad.mit.edu	37	chr2	70131463	70131463	+	Frame_Shift_Del	DEL	T	T	-																															attgaagtgttgaaggatgaTtttttttcccctcatcttgg																								rs79372020		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:70131463delT	ENST00000409116.1	+	5	452	c.426delT	c.(424-426)gafs	p.D142fs	SNRNP27_ENST00000244227.3_3'UTR			Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	0					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TGAAGGATGATTTTTTTTCCC	0.348													14	81	---	---	---	---					-	70131463	T	-	70131463	7	5	479	1	0	1	0	1	0	0	0	0	14942	1508	52	0		0	SNRNP27	2	70131463	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	11742711	70131463	173067910	71	91966											
EXOC6B	23233	broad.mit.edu	37	chr2	72740374	72740375	+	Frame_Shift_Ins	INS	-	-	A																															aaaatgtgatcttcaaccacINSaaaaaagctaagattgagga																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:72740374_72740375insA	ENST00000272427.6	-	11	1183_1184	c.1053_1054insT	c.(1051-1056)tttggtfs	p.G352fs	EXOC6B_ENST00000410104.1_Frame_Shift_Ins_p.G352fs	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	352					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCTTCAACCACAAAAAAGCTAA	0.376													14	83	---	---	---	---					A	72740375	-	A	72740374	7	5	479	1	0	1	1	0	0	0	0	0	5346	478	17	0	1429	0	EXOC6B	2	72740374	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	2608911	72740374	170458999	72	91967											
C2orf78	388960	broad.mit.edu	37	chr2	74043174	74043175	+	Frame_Shift_Ins	INS	-	-	A																															ttcccaatatgaaacggaagINSaaaaatcaacctgagcttag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:74043174_74043175insA	ENST00000409561.1	+	3	1945_1946	c.1824_1825insA	c.(1822-1827)aaaaaafs	p.KK608fs		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	608	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGAAACGGAAGAAAAATCAACC	0.45													8	55	---	---	---	---					A	74043175	-	A	74043174	7	5	479	1	0	1	1	0	0	0	0	0	2215	933	33	0	1834	0	C2orf78	2	74043174	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1302800	74043174	169156199	73	91968											
EIF2AK3	9451	broad.mit.edu	37	chr2	88885366	88885366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgattcttaccctgtgaGgatgaggatggaaaagcctg	11	10	12	8	0	1	3	0	3	1	0	1	6	1	6	3	3	2	0	3	3	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:88885366G>T	ENST00000303236.3	-	9	1944	c.1643C>A	c.(1642-1644)cCt>cAt	p.P548H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P397H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	548					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TACCCTGTGAGGATGAGGATG	0.443													40	60					9.62906e-15	1.13635e-14	1	0	T	88885366	G	T	88885366	3	4	479	1	0	0	0	0	1	0	0	0	5034	1000	35	4	1743	4	EIF2AK3	2	88885366	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	14842192	88885366	154314007	74	91969											
TMEM131	23505	broad.mit.edu	37	chr2	98378554	98378554	+	Frame_Shift_Del	DEL	G	G	-																															ccccgggccacaaaggggcaGggggcagctgggggagacgg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:98378554delG	ENST00000186436.5	-	36	5061	c.4833delC	c.(4831-4833)ccfs	p.P1611fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1611						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAGGGGCAGGGGGCAGCTG	0.562													9	29	---	---	---	---					-	98378554	G	-	98378554	7	5	479	1	0	1	0	1	0	0	0	0	16138	987	35	0	842	0	TMEM131	2	98378554	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	9493188	98378554	144820819	75	91970											
MRPL30	51263	broad.mit.edu	37	chr2	99804703	99804704	+	Frame_Shift_Del	DEL	TC	TC	-																															ttcgtcacaaattcaccagaTcaagaattccagaaaaagta																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:99804703_99804704delTC	ENST00000338148.3	+	3	313_314	c.115_116delTC	c.(115-117)afs	p.S39fs	MRPL30_ENST00000409145.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000410042.1_Frame_Shift_Del_p.S39fs|C2orf15_ENST00000512183.2_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000465432.1_Intron	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	39					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTCACCAGATCAAGAATTCCA	0.282													12	33	---	---	---	---					-	99804704	TC	-	99804703	7	5	479	1	0	1	0	1	0	0	0	0	9864	1435	50	0	121	0	MRPL30	2	99804703	Frame_Shift_Del	DEL	TC	TCGA-QK-A6VB-01A-12D-A34J-08	1426149	99804703	143394670	76	91971											
AFF3	3899	broad.mit.edu	37	chr2	100171155	100171155	+	Frame_Shift_Del	DEL	C	C	-																															gcgaacttactttccactggCcccccacggagatggggctt																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:100171155delC	ENST00000317233.4	-	22	3560	c.3325delG	c.(3325-3327)ccfs	p.A1109fs	AFF3_ENST00000409579.1_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.A1109fs	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1109					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTCCACTGGCCCCCCACGGA	0.522													9	80	---	---	---	---					-	100171155	C	-	100171155	7	5	479	1	0	1	0	1	0	0	0	0	358	739	26	0	367	0	AFF3	2	100171155	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	366452	100171155	143028218	77	91972											
CREG2	200407	broad.mit.edu	37	chr2	101967419	101967419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgctttgaaatattccTcccttgaaatactggatgcg	11	13	8	9	1	0	2	0	2	0	0	2	4	2	3	2	1	4	1	2	1	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:101967419T>C	ENST00000324768.4	-	4	976	c.839A>G	c.(838-840)gAg>gGg	p.E280G		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	280						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GAAATATTCCTCCCTTGAAAT	0.428													66	94					0	0	0	0	C	101967419	T	C	101967419	3	2	479	1	0	0	0	0	1	0	0	0	3895	1551	54	5	37	5	CREG2	2	101967419	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	1796264	101967419	141231954	78	91973											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105896983	105896983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccttgtagccatttgctAcctctgtgctgcggacctcg	4	13	9	15	2	1	0	0	0	1	0	3	1	2	1	5	1	5	3	5	1	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:105896983A>G	ENST00000393359.2	-	6	1745	c.1319T>C	c.(1318-1320)gTa>gCa	p.V440A	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V440A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	440					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCATTTGCTACCTCTGTGCT	0.562													14	79					0	0	0	0	G	105896983	A	G	105896983	3	3	479	1	0	0	0	0	1	0	0	0	15918	391	14	5	1291	5	TGFBRAP1	2	105896983	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	3929564	105896983	137302390	79	91974											
NCK2	8440	broad.mit.edu	37	chr2	106498429	106498429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtactacgggaacgtgaCgcggcaccaggccgagtgcg	8	5	17	11	6	0	1	0	1	0	0	0	3	0	2	2	4	4	2	2	4	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:106498429C>T	ENST00000233154.4	+	4	1314	c.872C>T	c.(871-873)aCg>aTg	p.T291M	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.T291M|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	291	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGGAACGTGACGCGGCACCAG	0.692													13	43					0	0	0	0	T	106498429	C	T	106498429	3	4	479	1	0	0	0	0	1	0	0	0	10290	536	19	1	878	1	NCK2	2	106498429	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	601446	106498429	136700944	80	91975											
SULT1C4	27233	broad.mit.edu	37	chr2	108994806	108994806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacactaatggccttacacGacatggaggattttacattt	12	14	7	8	1	0	0	0	0	0	0	0	3	0	2	1	3	3	0	1	3	4	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:108994806G>A	ENST00000272452.2	+	1	339	c.13G>A	c.(13-15)Gac>Aac	p.D5N	SULT1C4_ENST00000409309.3_Missense_Mutation_p.D5N	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	5			D -> E (in dbSNP:rs1402467).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGCCTTACACGACATGGAGGA	0.443													103	117					0	0	0	0	A	108994806	G	A	108994806	3	1	479	1	0	0	0	0	1	0	0	0	15469	1058	37	1	15	1	SULT1C4	2	108994806	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2496377	108994806	134204567	81	91976											
BUB1	699	broad.mit.edu	37	chr2	111413465	111413465	+	Frame_Shift_Del	DEL	A	A	-																															cccatacagttgagtcatccAaaaactcttcagcatgaggc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:111413465delA	ENST00000535254.1	-	15	1734	c.1667delT	c.(1666-1668)tgfs	p.L556fs	BUB1_ENST00000409311.1_Frame_Shift_Del_p.L576fs|BUB1_ENST00000302759.6_Frame_Shift_Del_p.L576fs	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	576					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAGTCATCCAAAAACTCTTC	0.438													60	231	---	---	---	---					-	111413465	A	-	111413465	7	5	479	1	0	1	0	1	0	0	0	0	1579	131	5	0	1570	0	BUB1	2	111413465	Frame_Shift_Del	DEL	A	TCGA-QK-A6VB-01A-12D-A34J-08	2418659	111413465	131785908	82	91977											
BIN1	274	broad.mit.edu	37	chr2	127827599	127827599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggaactggcccaggtacGtgtccatggtcagcagcgcc	7	6	15	13	3	1	0	1	0	0	0	2	1	2	1	3	5	4	2	3	5	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:127827599G>A	ENST00000316724.5	-	5	794	c.383C>T	c.(382-384)aCg>aTg	p.T128M	BIN1_ENST00000357970.3_Missense_Mutation_p.T128M|BIN1_ENST00000376113.2_Missense_Mutation_p.T128M|BIN1_ENST00000346226.3_Missense_Mutation_p.T128M|BIN1_ENST00000393041.3_Missense_Mutation_p.T128M|BIN1_ENST00000352848.3_Missense_Mutation_p.T128M|BIN1_ENST00000409400.1_Missense_Mutation_p.T128M|BIN1_ENST00000259238.4_Missense_Mutation_p.T128M|BIN1_ENST00000393040.3_Missense_Mutation_p.T128M|BIN1_ENST00000351659.3_Missense_Mutation_p.T128M|BIN1_ENST00000348750.4_Missense_Mutation_p.T128M	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	128	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCCAGGTACGTGTCCATGGT	0.602													27	44					0	0	0	0	A	127827599	G	A	127827599	3	1	479	1	0	0	0	0	1	0	0	0	1437	1145	40	1	1507	1	BIN1	2	127827599	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	16414134	127827599	115371774	83	91978											
IWS1	55677	broad.mit.edu	37	chr2	128261070	128261070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtcagatgctatggtCttctctcttttgcctgactt	5	18	7	11	0	5	2	2	1	3	1	6	2	5	2	1	1	2	1	1	1	1	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:128261070C>A	ENST00000295321.4	-	4	1561	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	IWS1_ENST00000455721.2_Missense_Mutation_p.K441N|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	434	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ATGCTATGGTCTTCTCTCTTT	0.428													47	72					1.06522e-23	1.30016e-23	1	0	A	128261070	C	A	128261070	3	1	479	1	0	0	0	0	1	0	0	0	7984	912	32	2	1201	2	IWS1	2	128261070	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	433471	128261070	114938303	84	91979											
LRP1B	53353	broad.mit.edu	37	chr2	141356335	141356336	+	Frame_Shift_Ins	INS	-	-	T																															tactgaccaccacttgagcaINStttttcccagtcagagtaga																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:141356335_141356336insT	ENST00000389484.3	-	43	8029_8030	c.7058_7059insA	c.(7057-7059)agcfs	p.S2353fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2353					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACTTGAGCATTTTTCCCAGT	0.366										TSP Lung(27;0.18)			25	98	---	---	---	---					T	141356336	-	T	141356335	7	5	479	1	0	1	1	0	0	0	0	0	9019	214	8	0	6936	0	LRP1B	2	141356335	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	13095265	141356335	101843038	85	91980											
KYNU	8942	broad.mit.edu	37	chr2	143718206	143718206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttagggggaagaaacctTaagaatagaggatatccttg	15	10	12	4	0	0	3	0	0	0	3	1	6	1	5	2	3	1	0	2	3	7	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:143718206T>C	ENST00000264170.4	+	8	854	c.596T>C	c.(595-597)tTa>tCa	p.L199S	KYNU_ENST00000375773.2_Missense_Mutation_p.L199S|KYNU_ENST00000409512.1_Missense_Mutation_p.L199S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	199					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GAAGAAACCTTAAGAATAGAG	0.378													23	61					0	0	0	0	C	143718206	T	C	143718206	3	2	479	1	0	0	0	0	1	0	0	0	8640	1764	61	5	622	5	KYNU	2	143718206	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	2361871	143718206	99481167	86	91981											
ERMN	57471	broad.mit.edu	37	chr2	158178245	158178247	+	In_Frame_Del	DEL	CTT	CTT	-																															ggctgctcagtaatcctctcCttctgtcttcttatttcctg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:158178245_158178247delCTT	ENST00000410096.1	-	3	682_684	c.391_393delAAG	c.(391-393)del	p.K131del	ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000420719.2_In_Frame_Del_p.K111del|ERMN_ENST00000397283.2_In_Frame_Del_p.K144del|ERMN_ENST00000535935.1_In_Frame_Del_p.K25del	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	131						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TAATCCTCTCCTTCTGTCTTCTT	0.448													24	80	---	---	---	---					-	158178247	CTT	-	158178245	7	5	479	1	0	1	0	1	0	0	0	0	5273	680	24	0	465	0	ERMN	2	158178245	In_Frame_Del	DEL	CTT	TCGA-QK-A6VB-01A-12D-A34J-08	14460039	158178245	85021128	87	91982											
WDSUB1	151525	broad.mit.edu	37	chr2	160128239	160128239	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actagcatctgcccatcatgGgaaaaagcacaagccagaac	16	5	8	12	0	2	1	1	0	1	1	2	2	2	2	2	1	5	2	2	1	5	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:160128239G>T	ENST00000409990.3	-	5	1000	c.744C>A	c.(742-744)tcC>tcA	p.S248S	WDSUB1_ENST00000359774.4_Silent_p.S248S|WDSUB1_ENST00000392796.3_Silent_p.S248S|WDSUB1_ENST00000409124.1_Silent_p.S248S|WDSUB1_ENST00000358147.4_Intron	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	248						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GCCCATCATGGGAAAAAGCAC	0.373													25	42					3.69857e-22	4.50466e-22	1	0	T	160128239	G	T	160128239	2	4	479	1	0	0	0	0	0	0	0	1	17437	1219	43	4		4	WDSUB1	2	160128239	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1949994	160128239	83071134	88	91983											
TANK	10010	broad.mit.edu	37	chr2	162091951	162091951	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagtatgtgaattctgtcaAgcagttttcccaccatccat	10	13	7	11	1	2	1	1	1	1	0	4	2	4	1	3	0	1	3	3	0	3	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:162091951A>G	ENST00000392749.2	+	8	1439	c.1200A>G	c.(1198-1200)caA>caG	p.Q400Q	AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_3'UTR|TANK_ENST00000259075.2_Silent_p.Q400Q|AC009299.2_ENST00000445372.1_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	400						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AATTCTGTCAAGCAGTTTTCC	0.438													34	144					0	0	0	0	G	162091951	A	G	162091951	2	3	479	1	0	0	0	0	0	0	0	1	15637	69	3	5		5	TANK	2	162091951	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	1963712	162091951	81107422	89	91984											
GRB14	2888	broad.mit.edu	37	chr2	165378627	165378627	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttgaactcagaaacaTctgaaagaaaatttatatat	17	13	6	5	0	2	4	1	2	1	2	2	4	2	4	0	0	3	1	0	0	8	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:165378627T>C	ENST00000263915.3	-	6	1217	c.678_splice	c.e6-1	p.M227_splice	GRB14_ENST00000543549.1_Splice_Site_p.M140_splice	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	227					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTCAGAAACATCTGAAAGAAA	0.269													37	69					0	0	0	0	C	165378627	T	C	165378627	5	2	479	1	0	0	0	0	0	0	1	0	6807	1449	50	5	979	5	GRB14	2	165378627	Splice_Site	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	3286676	165378627	77820746	90	91985											
LRP2	4036	broad.mit.edu	37	chr2	170031767	170031767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcattgcataaagtctgCgggctggtgcagttgccgtc	7	11	14	9	2	1	1	0	1	1	0	2	1	1	1	1	2	5	5	1	2	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:170031767C>T	ENST00000263816.3	-	55	10989	c.10704G>A	c.(10702-10704)ccG>ccA	p.P3568P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3568	LDL-receptor class A 27.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAAAGTCTGCGGGCTGGTGC	0.527													8	84					0	0	0	0	T	170031767	C	T	170031767	2	4	479	1	0	0	0	0	0	0	0	1	9020	755	27	1		1	LRP2	2	170031767	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4653140	170031767	73167606	91	91986											
HOXD13	3239	broad.mit.edu	37	chr2	176957811	176957813	+	In_Frame_Del	DEL	GCG	GCG	-																															cggcggcggcagcggcggctGcggcggcggcggcggcagcc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:176957811_176957813delGCG	ENST00000392539.3	+	1	193_195	c.193_195delGCG	c.(193-195)del	p.A71del		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	71	Poly-Ala.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		agcggcggctgcggcggcggcgg	0.773			T	NUP98	AML*								3	4	---	---	---	---					-	176957813	GCG	-	176957811	7	5	479	1	0	1	0	1	0	0	0	0	7372	1319	46	0	195	0	HOXD13	2	176957811	In_Frame_Del	DEL	GCG	TCGA-QK-A6VB-01A-12D-A34J-08	6926044	176957811	66241562	92	91987											
HNRNPA3	220988	broad.mit.edu	37	chr2	178080755	178080755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgaagaaaatttttgttgGtggtattaaagaagatacag	16	13	11	1	0	0	4	0	1	0	3	0	4	0	4	0	2	1	2	0	2	8	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:178080755G>A	ENST00000411529.2	+	4	377	c.326G>A	c.(325-327)gGt>gAt	p.G109D	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G131D|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G131D	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	131	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTTTTGTTGGTGGTATTAAA	0.323													9	45					0	0	0	0	A	178080755	G	A	178080755	3	1	479	1	0	0	0	0	1	0	0	0	7310	1261	44	4	406	4	HNRNPA3	2	178080755	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1122944	178080755	65118618	93	91988											
TTN	7273	broad.mit.edu	37	chr2	179604446	179604446	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaagaatccatttctTcttgcaaacttgttttggct	11	16	6	8	0	2	2	0	1	2	1	3	2	3	2	1	1	2	3	1	1	4	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:179604446T>C	ENST00000589042.1	-	48	13738	c.13514A>G	c.(13513-13515)gAa>gGa	p.E4505G	TTN_ENST00000591111.1_Missense_Mutation_p.E4188G|TTN_ENST00000359218.5_Missense_Mutation_p.E4267G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4142G|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4334G|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4188	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCATTTCTTCTTGCAAACT	0.378													114	130					0	0	0	0	C	179604446	T	C	179604446	3	2	479	1	0	0	0	0	1	0	0	0	16831	1783	62	5	91275	5	TTN	2	179604446	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	1523691	179604446	63594927	94	91989											
PDE1A	5136	broad.mit.edu	37	chr2	183070678	183070678	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaactcacctccagtcatcTttggataaatttatcaagat	14	13	5	9	0	4	1	3	0	1	1	5	3	5	2	2	1	1	0	2	1	5	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:183070678T>C	ENST00000435564.1	-	8	1139	c.939A>G	c.(937-939)aaA>aaG	p.K313K	PDE1A_ENST00000409365.1_Silent_p.K297K|PDE1A_ENST00000346717.4_Silent_p.K279K|PDE1A_ENST00000410103.1_Silent_p.K313K|PDE1A_ENST00000536095.1_Silent_p.K209K|PDE1A_ENST00000351439.5_Silent_p.K297K|PDE1A_ENST00000358139.2_Silent_p.K313K|PDE1A_ENST00000331935.6_Silent_p.K313K|PDE1A_ENST00000456212.1_Silent_p.K313K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	313	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCCAGTCATCTTTGGATAAAT	0.338													25	39					0	0	0	0	C	183070678	T	C	183070678	2	2	479	1	0	0	0	0	0	0	0	1	11704	1606	56	5		5	PDE1A	2	183070678	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	3466232	183070678	60128695	95	91990											
C2orf88	84281	broad.mit.edu	37	chr2	191064837	191064837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatgcaataacatcaagtAccatgacattccatacattg	15	10	6	10	0	1	1	1	1	0	0	2	1	2	1	2	1	4	3	2	1	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:191064837A>G	ENST00000340623.4	+	2	662	c.251A>G	c.(250-252)tAc>tGc	p.Y84C	C2orf88_ENST00000396974.2_Missense_Mutation_p.Y84C|C2orf88_ENST00000409870.1_Missense_Mutation_p.Y84C|C2orf88_ENST00000443551.2_Missense_Mutation_p.Y84C	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	84										kidney(1)|large_intestine(1)|lung(1)	3						AACATCAAGTACCATGACATT	0.458													35	129					0	0	0	0	G	191064837	A	G	191064837	3	3	479	1	0	0	0	0	1	0	0	0	2222	391	14	5	253	5	C2orf88	2	191064837	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	7994159	191064837	52134536	96	91991											
CASP8	841	broad.mit.edu	37	chr2	202141691	202141691	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaacacacttggatgcaGgtacagtagaacccaaaaga	17	6	10	8	0	0	2	0	0	0	2	0	4	0	4	1	3	4	3	1	3	6	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:202141691G>A	ENST00000358485.4	+	7	1175	c.979_splice	c.e7+1	p.G327_splice	CASP8_ENST00000432109.2_Splice_Site_p.G268_splice|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Splice_Site_p.G285_splice|CASP8_ENST00000323492.7_Splice_Site_p.G253_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	268					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTTGGATGCAGGTACAGTAGA	0.373										HNSCC(4;0.00038)			8	68					0	0	0	0	A	202141691	G	A	202141691	5	1	479	1	0	0	0	0	0	0	1	0	2702	1014	35	4	1105	4	CASP8	2	202141691	Splice_Site	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	11076854	202141691	41057682	97	91992											
ALS2	57679	broad.mit.edu	37	chr2	202622168	202622169	+	Frame_Shift_Del	DEL	CT	CT	-																															gagagtcttcgactgcctccCtctgtttcttcttctctgat																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:202622168_202622169delCT	ENST00000264276.6	-	5	1799_1800	c.1427_1428delAG	c.(1426-1428)gfs	p.E476fs		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	476					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GACTGCCTCCCTCTGTTTCTTC	0.436													52	84	---	---	---	---					-	202622169	CT	-	202622168	7	5	479	1	0	1	0	1	0	0	0	0	550	680	24	0	3665	0	ALS2	2	202622168	Frame_Shift_Del	DEL	CT	TCGA-QK-A6VB-01A-12D-A34J-08	480477	202622168	40577205	98	91993											
PARD3B	117583	broad.mit.edu	37	chr2	205829956	205829956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagatcggcagagcccaGatgcttttgagacagaagtg	11	8	13	9	1	0	5	0	1	0	5	1	6	0	5	1	1	3	3	1	1	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:205829956G>T	ENST00000406610.2	+	3	511	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	PARD3B_ENST00000358768.2_Missense_Mutation_p.D102Y|PARD3B_ENST00000351153.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000462231.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000349953.3_Missense_Mutation_p.D102Y	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	102					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGAGCCCAGATGCTTTTGA	0.478													19	49					9.95505e-16	1.1896e-15	1	0	T	205829956	G	T	205829956	3	4	479	1	0	0	0	0	1	0	0	0	11515	942	33	2	314	2	PARD3B	2	205829956	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3207788	205829956	37369417	99	91994											
PIKFYVE	200576	broad.mit.edu	37	chr2	209179974	209179974	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgctccatagtgactcActgtcatcatcttggaggga	9	12	10	10	0	4	1	3	1	1	0	5	3	5	3	1	2	1	2	1	2	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:209179974A>T	ENST00000264380.4	+	15	2042	c.1884A>T	c.(1882-1884)tcA>tcT	p.S628S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	628					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATAGTGACTCACTGTCATCAT	0.423													42	76					0	0	0	0	T	209179974	A	T	209179974	2	4	479	1	0	0	0	0	0	0	0	1	11996	146	6	5		5	PIKFYVE	2	209179974	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	3350018	209179974	34019399	100	91995											
SPEG	10290	broad.mit.edu	37	chr2	220312872	220312872	+	Frame_Shift_Del	DEL	C	C	-																															cccggcccagcccgcggccaCccccacgtcgccccaccgtc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:220312872delC	ENST00000312358.7	+	4	1124	c.992delC	c.(991-993)acfs	p.T331fs	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.T227fs|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	331	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCGCGGCCACCCCCACGTCG	0.736													7	15	---	---	---	---					-	220312872	C	-	220312872	7	5	479	1	0	1	0	1	0	0	0	0	15126	507	18	0	1006	0	SPEG	2	220312872	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	11132898	220312872	22886501	101	91996											
SGPP2	130367	broad.mit.edu	37	chr2	223423242	223423242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactacagcccaacccgggcGgacaccaccaccattctggc	10	5	8	18	2	1	0	0	0	1	0	1	1	1	1	5	3	4	0	5	3	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:223423242G>A	ENST00000321276.7	+	5	911	c.825G>A	c.(823-825)gcG>gcA	p.A275A		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	275					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CAACCCGGGCGGACACCACCA	0.547													65	100					0	0	0	0	A	223423242	G	A	223423242	2	1	479	1	0	0	0	0	0	0	0	1	14307	1103	39	1		1	SGPP2	2	223423242	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3110370	223423242	19776131	102	91997											
WDFY1	57590	broad.mit.edu	37	chr2	224777016	224777016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatatccgtctgctgtcaTgatggtaagccatagcagag	12	10	10	9	1	2	2	1	1	1	1	3	2	3	2	2	1	3	3	2	1	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:224777016T>C	ENST00000233055.4	-	3	335	c.233A>G	c.(232-234)cAt>cGt	p.H78R		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	78						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTGCTGTCATGATGGTAAGC	0.368													5	88					0	0	0	0	C	224777016	T	C	224777016	3	2	479	1	0	0	0	0	1	0	0	0	17364	1464	51	5	1039	5	WDFY1	2	224777016	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	1353774	224777016	18422357	103	91998											
TRIP12	9320	broad.mit.edu	37	chr2	230744733	230744733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcttgtggttgggccccGgcagtgttcctctgtgaacg	3	13	14	11	3	2	1	0	1	2	0	4	1	3	1	3	3	1	3	3	3	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:230744733G>A	ENST00000283943.5	-	2	241	c.63C>T	c.(61-63)gcC>gcT	p.A21A	TRIP12_ENST00000409677.1_Silent_p.A21A|TRIP12_ENST00000389044.4_Silent_p.A21A|TRIP12_ENST00000389045.3_Silent_p.A21A|TRIP12_ENST00000543084.1_Silent_p.A21A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	21					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		GTTGGGCCCCGGCAGTGTTCC	0.453													56	89					0	0	0	0	A	230744733	G	A	230744733	2	1	479	1	0	0	0	0	0	0	0	1	16651	1103	39	1		1	TRIP12	2	230744733	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5967717	230744733	12454640	104	91999											
INPP5D	3635	broad.mit.edu	37	chr2	234112940	234112940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgcggaaggaacccccGccctgcccggaacccggcat	8	3	12	18	5	0	0	0	0	0	0	0	3	0	3	6	4	4	1	6	4	3	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:234112940G>A	ENST00000359570.5	+	28	3108	c.3108G>A	c.(3106-3108)ccG>ccA	p.1036_1036insP	INPP5D_ENST00000450745.1_Missense_Mutation_p.800_800insP|INPP5D_ENST00000455936.2_Missense_Mutation_p.800_800insP			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGAACCCCCGCCCTGCCCGG	0.657													36	53					0	0	0	0	A	234112940	G	A	234112940	3	1	479	1	0	0	0	0	1	0	0	0	7809	1074	38	1	2754	1	INPP5D	2	234112940	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3368207	234112940	9086433	105	92000											
HJURP	55355	broad.mit.edu	37	chr2	234749677	234749679	+	In_Frame_Del	DEL	TTC	TTC	-																															ttttgatgaagcttgtcaaaTtcttctttaatttcatcgta																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:234749677_234749679delTTC	ENST00000411486.2	-	8	1812_1814	c.1747_1749delGAA	c.(1747-1749)del	p.E583del	HJURP_ENST00000441687.1_In_Frame_Del_p.E498del|HJURP_ENST00000432087.1_In_Frame_Del_p.E529del	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	583					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCTTGTCAAATTCTTCTTTAATT	0.404													18	165	---	---	---	---					-	234749679	TTC	-	234749677	7	5	479	1	0	1	0	1	0	0	0	0	7239	1490	52	0	505	0	HJURP	2	234749677	In_Frame_Del	DEL	TTC	TCGA-QK-A6VB-01A-12D-A34J-08	636737	234749677	8449696	106	92001											
SH3BP4	23677	broad.mit.edu	37	chr2	235951474	235951474	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgggatcgccctgctcagCgaggagcgggtcaggctccg	6	5	17	13	5	2	0	2	0	0	0	4	4	3	2	2	4	3	2	2	4	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:235951474C>T	ENST00000409212.1	+	4	2568	c.2061C>T	c.(2059-2061)agC>agT	p.S687S	SH3BP4_ENST00000392011.2_Silent_p.S687S|SH3BP4_ENST00000344528.4_Silent_p.S687S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	687					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCCTGCTCAGCGAGGAGCGGG	0.612													40	35					0	0	0	0	T	235951474	C	T	235951474	2	4	479	1	0	0	0	0	0	0	0	1	14333	767	27	1		1	SH3BP4	2	235951474	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1201797	235951474	7247899	107	92002											
WNT7A	7476	broad.mit.edu	37	chr3	13896227	13896227	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtcgctcaggttgccctgGgtacaggcagctgtgatggc	6	9	15	11	1	1	1	1	1	0	0	2	1	1	1	1	4	3	5	1	4	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:13896227G>T	ENST00000285018.4	-	3	676	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	124					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGTTGCCCTGGGTACAGGCAG	0.647													32	53					2.81731e-10	3.20533e-10	1	0	T	13896227	G	T	13896227	2	4	479	1	0	0	0	0	0	0	0	1	17490	1219	43	4		4	WNT7A	3	13896227	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08		13896227	184126203	108	92003											
CHCHD4	131474	broad.mit.edu	37	chr3	14163467	14163467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggtcacagatgaatacGacacaggcatccagtggaga	13	7	13	8	1	1	3	1	1	0	2	2	5	2	3	1	4	1	1	1	4	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:14163467G>A	ENST00000295767.5	-	2	335	c.11C>T	c.(10-12)tCg>tTg	p.S4L	CHCHD4_ENST00000396914.3_Intron	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	0					protein transport|transmembrane transport	mitochondrial intermembrane space		p.S4L(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						AGATGAATACGACACAGGCAT	0.493													34	8					0	0	0	0	A	14163467	G	A	14163467	3	1	479	1	0	0	0	0	1	0	0	0	3347	1059	37	1	468	1	CHCHD4	3	14163467	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	267240	14163467	183858963	109	92004											
TGFBR2	7048	broad.mit.edu	37	chr3	30713243	30713243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcttctactgctacCgcgttaaccggcagcagaag	10	10	8	13	3	4	1	2	0	2	1	4	1	4	1	2	1	5	4	2	1	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:30713243C>T	ENST00000295754.5	+	4	950	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R215C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	190					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTACTGCTACCGCGTTAACCG	0.517													40	7					0	0	0	0	T	30713243	C	T	30713243	3	4	479	1	0	0	0	0	1	0	0	0	15916	652	23	1	661	1	TGFBR2	3	30713243	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	16549776	30713243	167309187	110	92005											
SCN5A	6331	broad.mit.edu	37	chr3	38622503	38622503	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtctgactcggccacagcGatgggcacacacacgggctc	8	6	13	14	3	1	1	0	1	1	0	3	2	1	1	1	3	1	2	1	3	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:38622503G>A	ENST00000413689.1	-	17	3340	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	SCN5A_ENST00000423572.2_Silent_p.I1049I|SCN5A_ENST00000414099.2_Silent_p.I1049I|SCN5A_ENST00000333535.4_Silent_p.I1049I|SCN5A_ENST00000449557.2_Silent_p.I1049I|SCN5A_ENST00000455624.2_Silent_p.I1049I|SCN5A_ENST00000451551.2_Silent_p.I1049I|SCN5A_ENST00000450102.2_Silent_p.I1049I|SCN5A_ENST00000443581.1_Silent_p.I1049I|SCN5A_ENST00000425664.1_Silent_p.I1049I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1049					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGCCACAGCGATGGGCACAC	0.637													34	7					0	0	0	0	A	38622503	G	A	38622503	2	1	479	1	0	0	0	0	0	0	0	1	14009	1048	37	1		1	SCN5A	3	38622503	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7909260	38622503	159399927	111	92006											
NBEAL2	23218	broad.mit.edu	37	chr3	47040353	47040353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagctttttggcggccaCaggcgatgacggtcaggtag	7	9	16	9	3	1	2	1	2	0	0	1	3	1	2	1	5	1	3	1	5	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:47040353C>T	ENST00000450053.3	+	23	3547	c.3368C>T	c.(3367-3369)aCa>aTa	p.T1123I	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1123I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1123							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTGGCGGCCACAGGCGATGAC	0.657											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9					0	0	0	0	T	47040353	C	T	47040353	3	4	479	1	0	0	0	0	1	0	0	0	10259	478	17	4	3458	4	NBEAL2	3	47040353	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	8417850	47040353	150982077	112	92007											
CELSR3	1951	broad.mit.edu	37	chr3	48699646	48699648	+	In_Frame_Del	DEL	GAG	GAG	-																															aaggtcctgtccgcccgcaaGaggagacctctgggcgccag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:48699646_48699648delGAG	ENST00000544264.1	-	1	700_702	c.420_422delCTC	c.(418-423)tct>tc	p.SS140del	CELSR3_ENST00000164024.4_In_Frame_Del_p.SS140del			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	140					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCCCGCAAGAGGAGACCTCTG	0.635													69	38	---	---	---	---					-	48699648	GAG	-	48699646	7	5	479	1	0	1	0	1	0	0	0	0	3252	942	33	0	9656	0	CELSR3	3	48699646	In_Frame_Del	DEL	GAG	TCGA-QK-A6VB-01A-12D-A34J-08	1659293	48699646	149322784	113	92008											
USP4	7375	broad.mit.edu	37	chr3	49336023	49336023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacagcctggagagagcctCgcacaggtcggacacagccc	11	3	13	14	2	0	2	0	0	0	2	2	5	0	4	3	3	3	1	3	3	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:49336023C>T	ENST00000351842.4	-	11	1425	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	USP4_ENST00000265560.4_Missense_Mutation_p.E520K	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	520					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAGAGAGCCTCGCACAGGTCG	0.547													83	35					0	0	0	0	T	49336023	C	T	49336023	3	4	479	1	0	0	0	0	1	0	0	0	17167	893	31	1	1377	1	USP4	3	49336023	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	636377	49336023	148686407	114	92009											
RBM6	10180	broad.mit.edu	37	chr3	50099449	50099450	+	Frame_Shift_Ins	INS	-	-	A																															tgaggaagaagagatcaaggINSaaaaaaaacccaccagtcaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:50099449_50099450insA	ENST00000443081.1	+	15	3017_3018	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs	RBM6_ENST00000442092.1_Frame_Shift_Ins_p.K310fs|RBM6_ENST00000422955.1_Frame_Shift_Ins_p.K310fs|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Frame_Shift_Ins_p.K832fs|RBM6_ENST00000539992.1_Frame_Shift_Ins_p.K174fs			P78332	RBM6_HUMAN	RNA binding motif protein 6	832					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGATCAAGGAAAAAAAACCC	0.426													41	19	---	---	---	---					A	50099450	-	A	50099449	7	5	479	1	0	1	1	0	0	0	0	0	13226	1175	41	0	2548	0	RBM6	3	50099449	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	763426	50099449	147922981	115	92010											
SEMA3G	56920	broad.mit.edu	37	chr3	52475366	52475366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgagaagaagaagtacaCcttgtcattgtcctggtcag	11	10	10	10	1	2	3	2	0	0	3	4	4	4	3	3	1	1	1	3	1	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52475366C>T	ENST00000231721.2	-	7	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	243	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AAGAAGTACACCTTGTCATTG	0.627													11	18					0	0	0	0	T	52475366	C	T	52475366	3	4	479	1	0	0	0	0	1	0	0	0	14117	507	18	4	1661	4	SEMA3G	3	52475366	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2375917	52475366	145547064	116	92011											
NT5DC2	64943	broad.mit.edu	37	chr3	52559266	52559266	+	Frame_Shift_Del	DEL	G	G	-																															gtccccgaagtagagcacgcGggggccacgccattccgtca																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52559266delG	ENST00000307076.4	-	11	1454	c.1054delC	c.(1054-1056)gcfs	p.R352fs	NT5DC2_ENST00000459839.1_Frame_Shift_Del_p.R364fs|NT5DC2_ENST00000422318.2_Frame_Shift_Del_p.R389fs|NT5DC2_ENST00000307092.4_Frame_Shift_Del_p.R293fs	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	352							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TAGAGCACGCGGGGGCCACGC	0.642													11	24	---	---	---	---					-	52559266	G	-	52559266	7	5	479	1	0	1	0	1	0	0	0	0	10762	1116	39	0	524	0	NT5DC2	3	52559266	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	83900	52559266	145463164	117	92012											
SFMBT1	51460	broad.mit.edu	37	chr3	52941644	52941644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaacaaaaacatttttcCgcctctttctcctcttactg	10	16	3	12	1	3	1	0	1	3	0	5	1	4	1	3	0	3	0	3	0	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52941644C>T	ENST00000394752.3	-	18	2394	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R671Q|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R671Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R671Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	671					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AACATTTTTCCGCCTCTTTCT	0.438													40	21					0	0	0	0	T	52941644	C	T	52941644	3	4	479	1	0	0	0	0	1	0	0	0	14244	652	23	1	604	1	SFMBT1	3	52941644	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	382378	52941644	145080786	118	92013											
UBA3	9039	broad.mit.edu	37	chr3	69105798	69105798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgtatgtatacagccCatctacatcattaaacacca	16	11	4	10	0	2	0	1	0	1	0	2	0	2	0	2	0	4	2	2	0	7	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:69105798C>T	ENST00000361055.4	-	14	1102	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	UBA3_ENST00000540295.1_Missense_Mutation_p.G173R|UBA3_ENST00000415609.2_Missense_Mutation_p.G309R|UBA3_ENST00000349511.4_Missense_Mutation_p.G336R	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	350					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GTATACAGCCCATCTACATCA	0.264													106	34					0	0	0	0	T	69105798	C	T	69105798	3	4	479	1	0	0	0	0	1	0	0	0	16925	594	21	4	363	4	UBA3	3	69105798	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	16164154	69105798	128916632	119	92014											
TBC1D23	55773	broad.mit.edu	37	chr3	100035004	100035004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtaaagcctgttttcagcAttggggatgaagaagaatac	13	10	12	6	1	1	3	1	1	0	2	1	4	1	4	1	2	3	3	1	2	6	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:100035004A>G	ENST00000394144.4	+	16	1667	c.1660A>G	c.(1660-1662)Att>Gtt	p.I554V	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.I539V|TBC1D23_ENST00000475134.1_Missense_Mutation_p.I417V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	554						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGTTTTCAGCATTGGGGATGA	0.423													12	20					0	0	0	0	G	100035004	A	G	100035004	3	3	479	1	0	0	0	0	1	0	0	0	15704	217	8	5	1673	5	TBC1D23	3	100035004	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	30929206	100035004	97987426	120	92015											
CBLB	868	broad.mit.edu	37	chr3	105459342	105459342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctcatacttacaatcCttccctgctgccatcaatca	10	14	2	15	0	3	0	3	0	1	0	6	0	5	0	3	0	4	1	3	0	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:105459342C>T	ENST00000264122.4	-	7	1300	c.979G>A	c.(979-981)Gga>Aga	p.G327R	CBLB_ENST00000394027.3_Missense_Mutation_p.G349R|CBLB_ENST00000403724.1_Missense_Mutation_p.G327R|CBLB_ENST00000405772.1_Missense_Mutation_p.G327R|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	327	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACTTACAATCCTTCCCTGCTG	0.418			Mis S		AML								43	88					0	0	0	0	T	105459342	C	T	105459342	3	4	479	1	0	0	0	0	1	0	0	0	2726	690	24	4	2021	4	CBLB	3	105459342	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5424338	105459342	92563088	121	92016											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-																															cacctgggggtgtgcctgcaGggggggtcccattgctggca																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:114058003delG	ENST00000462705.1	-	12	2677	c.1856delC	c.(1855-1857)ctfs	p.P619fs	ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													25	68	---	---	---	---					-	114058003	G	-	114058003	7	5	479	1	0	1	0	1	0	0	0	0	17624	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	8598661	114058003	83964427	122	92017											
PDIA5	10954	broad.mit.edu	37	chr3	122842976	122842976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggaggagtacagcgtgCgcggcttccccaccatctgc	8	7	12	14	3	2	0	1	0	1	0	3	2	3	2	3	3	4	2	3	3	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:122842976C>T	ENST00000316218.7	+	9	768	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	225	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.R225C(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GTACAGCGTGCGCGGCTTCCC	0.537													24	54					0	0	0	0	T	122842976	C	T	122842976	3	4	479	1	0	0	0	0	1	0	0	0	11742	768	27	1	707	1	PDIA5	3	122842976	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	8784973	122842976	75179454	123	92018											
PIK3R4	30849	broad.mit.edu	37	chr3	130437346	130437346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcccacggcaccataacGtatccataaattgggatgac	15	8	7	11	2	0	1	0	1	0	0	2	2	2	2	3	2	1	2	3	2	5	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:130437346G>A	ENST00000356763.3	-	8	2571	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	672					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCACCATAACGTATCCATAAA	0.383													21	70					0	0	0	0	A	130437346	G	A	130437346	3	1	479	1	0	0	0	0	1	0	0	0	11993	1145	40	1	2114	1	PIK3R4	3	130437346	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7594370	130437346	67585084	124	92019											
ACAD11	84129	broad.mit.edu	37	chr3	132337599	132337599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaagttccagagaccCtcgactttggccatttcctg	12	10	7	12	1	0	1	0	0	0	1	3	3	2	1	4	1	1	1	4	1	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:132337599C>A	ENST00000264990.6	-	11	2264	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.E431D|ACAD11_ENST00000355458.3_Missense_Mutation_p.E431D	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TCCAGAGACCCTCGACTTTGG	0.423													16	39					1.5739e-10	1.79784e-10	1	0	A	132337599	C	A	132337599	3	1	479	1	0	0	0	0	1	0	0	0	109	680	24	4	1089	4	ACAD11	3	132337599	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1900253	132337599	65684831	125	92020											
NPHP3	27031	broad.mit.edu	37	chr3	132437923	132437923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtagcctctgaagtttGctctccaactccctcttggc	5	13	8	15	0	3	1	0	1	3	0	5	1	4	1	4	1	3	3	4	1	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:132437923G>A	ENST00000326682.8	-	3	661	c.585C>T	c.(583-585)agC>agT	p.S195S	NPHP3_ENST00000343113.4_Silent_p.S195S|NPHP3_ENST00000337331.5_Silent_p.S195S			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	195					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGAAGTTTGCTCTCCAACT	0.393													29	89					0	0	0	0	A	132437923	G	A	132437923	2	1	479	1	0	0	0	0	0	0	0	1	10650	1310	46	4		4	NPHP3	3	132437923	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	100324	132437923	65584507	126	92021											
PLSCR2	57047	broad.mit.edu	37	chr3	146177679	146177679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggacagtttaatggtggtgGtggtgctggcatccatggta	7	12	16	6	1	0	0	0	0	0	0	1	1	1	1	1	7	1	4	1	7	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:146177679G>A	ENST00000497985.1	-	4	671	c.232C>T	c.(232-234)Cca>Tca	p.P78S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.P5S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	5					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AATGGTGGTGGTGGTGCTGGC	0.443													24	66					0	0	0	0	A	146177679	G	A	146177679	3	1	479	1	0	0	0	0	1	0	0	0	12182	1261	44	4	685	4	PLSCR2	3	146177679	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	13739756	146177679	51844751	127	92022											
ZIC1	7545	broad.mit.edu	37	chr3	147128227	147128227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccggggttttggcgacGcggcggcggcagccagcgca	6	4	18	13	7	0	0	0	0	0	0	0	1	0	0	2	6	3	4	2	6	1	2	rs138004710	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:147128227G>A	ENST00000282928.4	+	1	1057	c.328G>A	c.(328-330)Gcg>Acg	p.A110T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	110	Poly-Ala.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTTTGGCGACGCGGCGGCGGC	0.697													21	10					0	0	0	0	A	147128227	G	A	147128227	3	1	479	1	0	0	0	0	1	0	0	0	17773	1087	38	1	330	1	ZIC1	3	147128227	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	950548	147128227	50894203	128	92023											
PLCH1	23007	broad.mit.edu	37	chr3	155301373	155301374	+	Frame_Shift_Ins	INS	-	-	A																															tctcaaagacatcattttgtINSaaaaaacacagaactcttca																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:155301373_155301374insA	ENST00000460012.1	-	6	925_926	c.568_569insT	c.(568-570)caafs	p.Q190fs	PLCH1_ENST00000447496.2_Frame_Shift_Ins_p.Q208fs|PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.Q190fs|PLCH1_ENST00000340059.7_Frame_Shift_Ins_p.Q208fs|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.Q190fs|PLCH1_ENST00000494598.1_Frame_Shift_Ins_p.Q208fs			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	208	EF-hand 2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATCATTTTGTAAAAAACACAG	0.361													18	73	---	---	---	---					A	155301374	-	A	155301373	7	5	479	1	0	1	1	0	0	0	0	0	12109	1638	57	0	4549	0	PLCH1	3	155301373	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	8173146	155301373	42721057	129	92024											
SLC33A1	9197	broad.mit.edu	37	chr3	155560343	155560344	+	Frame_Shift_Ins	INS	-	-	T																															actactgatacttcgttttcINSttttttcagaagggcaacca																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:155560343_155560344insT	ENST00000392845.2	-	2	1220_1221	c.840_841insA	c.(838-843)aaaaaafs	p.KK280fs	SLC33A1_ENST00000359479.3_Frame_Shift_Ins_p.KK280fs	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	280					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTTCGTTTTCTTTTTTCAGAA	0.292													8	86	---	---	---	---					T	155560344	-	T	155560343	7	5	479	1	0	1	1	0	0	0	0	0	14654	922	32	0	828	0	SLC33A1	3	155560343	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	258970	155560343	42462087	130	92025											
SMC4	10051	broad.mit.edu	37	chr3	160149596	160149596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccaaacctcggtgccatcGcagagtataaaaagaaggta	17	6	9	9	2	0	2	0	0	0	2	2	2	0	2	3	2	3	3	3	2	8	3	rs11548868		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:160149596G>A	ENST00000357388.3	+	21	3731	c.3280G>A	c.(3280-3282)Gca>Aca	p.A1094T	SMC4_ENST00000344722.5_Missense_Mutation_p.A1094T|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.A1036T|SMC4_ENST00000360111.2_Missense_Mutation_p.A1036T|SMC4_ENST00000469762.1_Missense_Mutation_p.A1069T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1094					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGGTGCCATCGCAGAGTATAA	0.358													36	24					0	0	0	0	A	160149596	G	A	160149596	3	1	479	1	0	0	0	0	1	0	0	0	14873	1087	38	1	3358	1	SMC4	3	160149596	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4589253	160149596	37872834	131	92026											
USP13	8975	broad.mit.edu	37	chr3	179474843	179474843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccttaatttccagatcGcctgatgaaccaattgatag	11	13	6	11	1	1	4	0	3	1	1	4	4	2	4	4	0	1	0	4	0	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:179474843G>A	ENST00000263966.3	+	16	2396	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.R577H	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	642					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTCCAGATCGCCTGATGAAC	0.368													11	197					0	0	0	0	A	179474843	G	A	179474843	3	1	479	1	0	0	0	0	1	0	0	0	17140	1087	38	1	1987	1	USP13	3	179474843	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	19325247	179474843	18547587	132	92027											
ABCF3	55324	broad.mit.edu	37	chr3	183910459	183910459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacctggcacctgttcgggGcatcagacacgctcacaggt	8	7	13	13	2	2	1	2	0	0	1	3	2	2	2	2	5	0	4	2	5	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:183910459G>A	ENST00000429586.2	+	17	1825	c.1640G>A	c.(1639-1641)gGc>gAc	p.G547D	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.G541D	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	547	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGTTCGGGGCATCAGACAC	0.572													7	16					0	0	0	0	A	183910459	G	A	183910459	3	1	479	1	0	0	0	0	1	0	0	0	67	1203	42	4	1706	4	ABCF3	3	183910459	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4435616	183910459	14111971	133	92028											
CPN2	1370	broad.mit.edu	37	chr3	194062486	194062486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgagagcatgagggaacGcaggttggacaggtgggcaa	12	6	18	5	1	0	2	0	2	0	1	0	5	0	4	0	5	2	5	0	5	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:194062486G>A	ENST00000323830.3	-	2	1035	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	CPN2_ENST00000429275.1_Missense_Mutation_p.R316C	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	316					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		ATGAGGGAACGCAGGTTGGAC	0.582													9	28					0	0	0	0	A	194062486	G	A	194062486	3	1	479	1	0	0	0	0	1	0	0	0	3840	1087	38	1	695	1	CPN2	3	194062486	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	10152027	194062486	3959944	134	92029											
MFI2	4241	broad.mit.edu	37	chr3	196736498	196736498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggggtacctgtgaggaCgtcacagtccttgggccgga	6	7	19	9	2	1	1	1	1	0	0	2	3	2	3	3	7	1	1	3	7	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:196736498C>T	ENST00000296350.5	-	11	1629	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	506	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCTGTGAGGACGTCACAGTCC	0.627													22	69					0	0	0	0	T	196736498	C	T	196736498	3	4	479	1	0	0	0	0	1	0	0	0	9591	536	19	1	724	1	MFI2	3	196736498	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2674012	196736498	1285932	135	92030											
SLBP	7884	broad.mit.edu	37	chr4	1701409	1701409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcagccggcacagtagacaTagactcctttgaatcagaac	13	8	9	11	1	2	4	2	1	0	3	3	4	3	4	2	1	2	2	2	1	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:1701409T>C	ENST00000489418.1	-	5	727	c.361A>G	c.(361-363)Atg>Gtg	p.M121V	SLBP_ENST00000429429.2_Missense_Mutation_p.M82V|SLBP_ENST00000318386.4_Missense_Mutation_p.M128V|SLBP_ENST00000488267.1_Missense_Mutation_p.M86V	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	121					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			ACAGTAGACATAGACTCCTTT	0.393													13	54					0	0	0	0	C	1701409	T	C	1701409	3	2	479	1	0	0	0	0	1	0	0	0	14460	1406	49	5	467	5	SLBP	4	1701409	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08		1701409	189452867	136	92031											
SLC34A2	10568	broad.mit.edu	37	chr4	25671280	25671280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcccatagagcttttgcagGagccactgtccatgacttct	8	12	8	13	0	1	2	0	1	1	1	3	3	3	3	3	1	3	2	3	1	1	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:25671280G>T	ENST00000382051.3	+	7	697	c.647G>T	c.(646-648)gGa>gTa	p.G216V	SLC34A2_ENST00000503434.1_Missense_Mutation_p.G215V|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G215V	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	216					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTTTTGCAGGAGCCACTGTC	0.537			T	ROS1	NSCLC								60	23					4.88506e-25	5.98813e-25	1	0	T	25671280	G	T	25671280	3	4	479	1	0	0	0	0	1	0	0	0	14656	1174	41	2	669	2	SLC34A2	4	25671280	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	23969871	25671280	165482996	137	92032											
RBPJ	3516	broad.mit.edu	37	chr4	26426078	26426078	+	Frame_Shift_Del	DEL	G	G	-																															tcatgccagttcacagcagtGgggagccttttttattcatc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:26426078delG	ENST00000342320.4	+	6	784	c.608delG	c.(607-609)tgfs	p.W203fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.W217fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.W204fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.W182fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.W202fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.W217fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	217					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TCACAGCAGTGGGGAGCCTTT	0.363													99	35	---	---	---	---					-	26426078	G	-	26426078	7	5	479	1	0	1	0	1	0	0	0	0	13243	1357	47	0	735	0	RBPJ	4	26426078	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	754798	26426078	164728198	138	92033											
LIMCH1	22998	broad.mit.edu	37	chr4	41648832	41648832	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaagcaaaactgtcacTcccaaagcagtgcctatgct	12	9	6	14	0	2	0	1	0	1	0	4	0	3	0	3	0	5	3	3	0	5	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:41648832T>C	ENST00000313860.7	+	12	1641	c.1587T>C	c.(1585-1587)acT>acC	p.T529T	LIMCH1_ENST00000509277.1_Silent_p.T363T|LIMCH1_ENST00000513024.1_Silent_p.T358T|LIMCH1_ENST00000396595.3_Silent_p.T375T|LIMCH1_ENST00000512632.1_Silent_p.T529T|LIMCH1_ENST00000381753.4_Silent_p.T363T|LIMCH1_ENST00000508501.1_Silent_p.T529T|LIMCH1_ENST00000512820.1_Silent_p.T517T|LIMCH1_ENST00000503057.1_Silent_p.T914T|LIMCH1_ENST00000511496.1_Silent_p.T370T|LIMCH1_ENST00000512946.1_Silent_p.T529T|LIMCH1_ENST00000514096.1_Silent_p.T370T	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	529					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAACTGTCACTCCCAAAGCAG	0.488													47	68					0	0	0	0	C	41648832	T	C	41648832	2	2	479	1	0	0	0	0	0	0	0	1	8851	1538	54	5		5	LIMCH1	4	41648832	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	15222754	41648832	149505444	139	92034											
PDGFRA	5156	broad.mit.edu	37	chr4	55138607	55138607	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcaccatggctcaacTgggggacagacggtgaggtg	10	7	16	8	1	2	3	2	2	0	1	2	5	2	4	1	5	1	1	1	5	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:55138607T>C	ENST00000257290.5	+	9	1615	c.1284T>C	c.(1282-1284)acT>acC	p.T428T	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	428	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGGCTCAACTGGGGGACAGA	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	56					0	0	0	0	C	55138607	T	C	55138607	2	2	479	1	0	0	0	0	0	0	0	1	11732	1567	55	5		5	PDGFRA	4	55138607	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	13489775	55138607	136015669	140	92035											
BMP2K	55589	broad.mit.edu	37	chr4	79792103	79792103	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcaacagcaacagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0	rs141745080		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:79792103G>A	ENST00000335016.5	+	11	1564	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BMP2K_ENST00000502871.1_Silent_p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	466	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcaacagc	0.547													11	14					0	0	0	0	A	79792103	G	A	79792103	2	1	479	1	0	0	0	0	0	0	0	1	1465	962	34	4		4	BMP2K	4	79792103	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	24653496	79792103	111362173	141	92036											
BMP2K	55589	broad.mit.edu	37	chr4	79833124	79833124	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatcactccacatcagtcCcaacagtcccaaccagtcga	13	6	5	17	1	2	0	2	0	0	0	6	1	5	0	4	0	3	1	4	0	2	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:79833124C>A	ENST00000335016.5	+	16	3589	c.3423C>A	c.(3421-3423)tcC>tcA	p.S1141S	PAQR3_ENST00000295462.3_Intron|PAQR3_ENST00000512733.1_3'UTR	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1141						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CACATCAGTCCCAACAGTCCC	0.443													91	24					3.47606e-37	4.35462e-37	1	0	A	79833124	C	A	79833124	2	1	479	1	0	0	0	0	0	0	0	1	1465	610	22	4		4	BMP2K	4	79833124	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	41021	79833124	111321152	142	92037											
FAM175A	84142	broad.mit.edu	37	chr4	84390298	84390298	+	Frame_Shift_Del	DEL	A	A	-																															accactaaaggtaccctgtgAaaaagtctgacaaaataaaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:84390298delA	ENST00000321945.7	-	6	591	c.483delT	c.(481-483)ttfs	p.F161fs	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Frame_Shift_Del_p.F112fs|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	161					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						GTACCCTGTGAAAAAGTCTGA	0.378													7	127	---	---	---	---					-	84390298	A	-	84390298	7	5	479	1	0	1	0	1	0	0	0	0	5538	243	9	0	762	0	FAM175A	4	84390298	Frame_Shift_Del	DEL	A	TCGA-QK-A6VB-01A-12D-A34J-08	4557174	84390298	106763978	143	92038											
GPRIN3	285513	broad.mit.edu	37	chr4	90170865	90170865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggatggactggcaggtgtGctgattggcgggcattgtca	6	11	18	6	1	1	1	1	1	0	0	1	3	1	3	0	6	1	3	0	6	0	2	rs142993117		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:90170865G>A	ENST00000333209.3	-	2	915	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	133										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGCAGGTGTGCTGATTGGCG	0.557													58	58					0	0	0	0	A	90170865	G	A	90170865	3	1	479	1	0	0	0	0	1	0	0	0	6781	1319	46	4	1937	4	GPRIN3	4	90170865	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5780567	90170865	100983411	144	92039											
CENPE	1062	broad.mit.edu	37	chr4	104054933	104054933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacaatcttgttgaaggtgCtgtattttaattagcaattc	11	17	7	6	0	2	1	1	1	1	0	3	1	2	1	0	1	2	4	0	1	6	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:104054933C>T	ENST00000265148.3	-	41	6728	c.6639G>A	c.(6637-6639)caG>caA	p.Q2213Q	CENPE_ENST00000380026.3_Silent_p.Q2092Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2213	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTTGAAGGTGCTGTATTTTAA	0.284													30	12					0	0	0	0	T	104054933	C	T	104054933	2	4	479	1	0	0	0	0	0	0	0	1	3259	796	28	4		4	CENPE	4	104054933	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	13884068	104054933	87099343	145	92040											
PAPSS1	9061	broad.mit.edu	37	chr4	108566103	108566103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctttgtccagccacccAgagggtggaggaggaggaca	10	6	14	11	0	0	1	0	0	0	1	2	5	2	5	4	5	1	0	4	5	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:108566103A>G	ENST00000265174.4	-	10	1633	c.1361T>C	c.(1360-1362)cTg>cCg	p.L454P		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	454					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAGCCACCCAGAGGGTGGAG	0.547													6	49					0	0	0	0	G	108566103	A	G	108566103	3	3	479	1	0	0	0	0	1	0	0	0	11505	188	7	5	525	5	PAPSS1	4	108566103	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	4511170	108566103	82588173	146	92041											
SYNPO2	171024	broad.mit.edu	37	chr4	119948386	119948386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgggtggaagtgatcCtcgactgctctgacaggcag	7	8	14	12	2	1	2	0	2	1	0	3	4	2	3	3	3	2	2	3	3	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:119948386C>A	ENST00000307142.4	+	3	1058	c.862C>A	c.(862-864)Ctc>Atc	p.L288I	SYNPO2_ENST00000434046.2_Missense_Mutation_p.L288I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.L288I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	288						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			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						GGAAGTGATCCTCGACTGCTC	0.562													13	23					7.03913e-09	7.86726e-09	1	0	A	119948386	C	A	119948386	3	1	479	1	0	0	0	0	1	0	0	0	15548	681	24	4	872	4	SYNPO2	4	119948386	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	11382283	119948386	71205890	147	92042											
TRPC3	7222	broad.mit.edu	37	chr4	122854027	122854027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggactcctccagcatcttgCgcaccactgggatgttgccg	6	10	11	14	2	1	0	0	0	1	0	3	2	3	2	4	2	3	3	4	2	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:122854027C>T	ENST00000264811.5	-	1	585	c.167G>A	c.(166-168)cGc>cAc	p.R56H	TRPC3_ENST00000379645.3_Missense_Mutation_p.R129H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R56H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	44					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGCATCTTGCGCACCACTGG	0.647													36	20					0	0	0	0	T	122854027	C	T	122854027	3	4	479	1	0	0	0	0	1	0	0	0	16674	768	27	1	2423	1	TRPC3	4	122854027	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2905641	122854027	68300249	148	92043											
SPATA4	132851	broad.mit.edu	37	chr4	177113863	177113863	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcattggtcagcatgttGggattgcttagtaattctga	9	16	11	5	0	3	1	2	1	1	0	3	2	3	2	0	2	2	5	0	2	2	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:177113863G>T	ENST00000515234.1	-	3	1679	c.84C>A	c.(82-84)ccC>ccA	p.P28P	SPATA4_ENST00000280191.2_Silent_p.P201P			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	201					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TCAGCATGTTGGGATTGCTTA	0.383													24	39					1.96895e-08	2.18772e-08	1	0	T	177113863	G	T	177113863	2	4	479	1	0	0	0	0	0	0	0	1	15100	1335	47	4		4	SPATA4	4	177113863	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	54259836	177113863	14040413	149	92044											
VEGFC	7424	broad.mit.edu	37	chr4	177713372	177713372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtcgagtccggactcgaAggcggcggcggcggcgggcg	5	3	22	11	9	0	0	0	0	0	0	3	4	1	1	1	8	0	0	1	8	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:177713372A>G	ENST00000280193.2	-	1	509	c.94T>C	c.(94-96)Ttc>Ctc	p.F32L		NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	32					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CCGGACTCGAAggcggcggcg	0.687													16	11					0	0	0	0	G	177713372	A	G	177713372	3	3	479	1	0	0	0	0	1	0	0	0	17248	72	3	5	1196	5	VEGFC	4	177713372	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	599509	177713372	13440904	150	92045											
AHRR	57491	broad.mit.edu	37	chr5	428001	428001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagccatgctcccgccgcGgctgtcgctgttctgcattg	4	10	13	14	4	1	0	0	0	1	0	3	1	2	1	3	2	3	5	3	2	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:428001G>A	ENST00000316418.5	+	9	898	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	AHRR_ENST00000506456.1_Missense_Mutation_p.R123Q|AHRR_ENST00000512529.1_Missense_Mutation_p.R113Q|AHRR_ENST00000505113.1_Missense_Mutation_p.R267Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTCCCGCCGCGGCTGTCGCTG	0.557													33	27					0	0	0	0	A	428001	G	A	428001	3	1	479	1	0	0	0	0	1	0	0	0	417	1116	39	1	888	1	AHRR	5	428001	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08		428001	180487259	151	92046											
PAPD7	11044	broad.mit.edu	37	chr5	6737711	6737711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaggtggtgaaacggatcGaaactgtggtgaaagacctt	13	8	15	5	2	0	4	0	2	0	2	1	7	0	5	1	4	2	0	1	4	3	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:6737711G>A	ENST00000230859.6	+	2	184	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	19					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAACGGATCGAAACTGTGGT	0.433													26	34					0	0	0	0	A	6737711	G	A	6737711	3	1	479	1	0	0	0	0	1	0	0	0	11497	1059	37	1	57	1	PAPD7	5	6737711	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	6309710	6737711	174177549	152	92047											
FASTKD3	79072	broad.mit.edu	37	chr5	7867655	7867655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaatcagagcttgcaaaGcagtcactaaactagtgttt	15	10	8	8	0	2	2	2	0	0	2	2	2	2	2	0	0	4	4	0	0	5	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:7867655G>A	ENST00000264669.5	-	2	678	c.542C>T	c.(541-543)gCt>gTt	p.A181V	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	181					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTTGCAAAGCAGTCACTAA	0.448													19	162					0	0	0	0	A	7867655	G	A	7867655	3	1	479	1	0	0	0	0	1	0	0	0	5732	971	34	4	1470	4	FASTKD3	5	7867655	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1129944	7867655	173047605	153	92048											
CDH9	1007	broad.mit.edu	37	chr5	26881605	26881605	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtgccaatgtcaaaagcTtgggtatcttcttccccgcc	9	12	8	12	1	3	0	1	0	2	0	4	0	4	0	4	1	2	2	4	1	5	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:26881605T>C	ENST00000231021.4	-	12	2182	c.2010A>G	c.(2008-2010)caA>caG	p.Q670Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	670					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTCAAAAGCTTGGGTATCTT	0.433													41	173					0	0	0	0	C	26881605	T	C	26881605	2	2	479	1	0	0	0	0	0	0	0	1	3146	1606	56	5		5	CDH9	5	26881605	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	19013950	26881605	154033655	154	92049											
IL7R	3575	broad.mit.edu	37	chr5	35876380	35876380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtccctagactgcaGggagagtggcaagaatgggc	10	7	15	9	0	0	3	0	0	0	3	2	4	2	3	2	4	1	2	2	4	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:35876380G>T	ENST00000303115.3	+	8	1301	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	391					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTAGACTGCAGGGAGAGTGGC	0.542			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						7	74					8.12818e-05	8.65993e-05	1	0	T	35876380	G	T	35876380	3	4	479	1	0	0	0	0	1	0	0	0	7758	1000	35	4	1202	4	IL7R	5	35876380	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	8994775	35876380	145038880	155	92050											
WDR70	55100	broad.mit.edu	37	chr5	37443410	37443410	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatgactatgatgttaagTtttgggattttgctggaatg	10	17	12	2	0	0	2	0	2	0	0	0	5	0	4	0	2	1	3	0	2	4	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:37443410T>G	ENST00000265107.4	+	7	778	c.622T>G	c.(622-624)Ttt>Gtt	p.F208V	WDR70_ENST00000504564.1_Missense_Mutation_p.F208V	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	208										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATGTTAAGTTTTGGGATTT	0.398													32	90					0	0	0	0	G	37443410	T	G	37443410	3	3	479	1	0	0	0	0	1	0	0	0	17417	1725	60	5	648	5	WDR70	5	37443410	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	1567030	37443410	143471850	156	92051											
HCN1	348980	broad.mit.edu	37	chr5	45303767	45303767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgacaccagcaacacCgtgttgaatgaaatacattt	15	11	7	8	1	0	3	0	3	0	0	0	3	0	3	2	0	3	3	2	0	5	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:45303767C>A	ENST00000303230.4	-	6	1609	c.1552G>T	c.(1552-1554)Ggt>Tgt	p.G518C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	518						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G518S(1)|p.G518C(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCAGCAACACCGTGTTGAATG	0.388													33	115					1.22384e-17	1.47481e-17	1	0	A	45303767	C	A	45303767	3	1	479	1	0	0	0	0	1	0	0	0	7046	652	23	3	1132	3	HCN1	5	45303767	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	7860357	45303767	135611493	157	92052											
DDX4	54514	broad.mit.edu	37	chr5	55110883	55110883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttctaccattgatgaaTatgttcatcgaattgggcgt	9	16	8	8	2	2	2	1	2	1	0	4	3	3	2	2	1	1	1	2	1	4	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:55110883T>C	ENST00000505374.1	+	20	1962	c.1870T>C	c.(1870-1872)Tat>Cat	p.Y624H	DDX4_ENST00000353507.5_Missense_Mutation_p.Y590H|DDX4_ENST00000514278.2_Missense_Mutation_p.Y604H|DDX4_ENST00000354991.5_Missense_Mutation_p.Y590H|DDX4_ENST00000511853.1_Missense_Mutation_p.Y475H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	624	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CATTGATGAATATGTTCATCG	0.418													74	22					0	0	0	0	C	55110883	T	C	55110883	3	2	479	1	0	0	0	0	1	0	0	0	4392	1406	49	5	1985	5	DDX4	5	55110883	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	9807116	55110883	125804377	158	92053											
PIK3R1	5295	broad.mit.edu	37	chr5	67588981	67588981	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacgggacctttttggtaCgagatgcgtctactaaaatg	11	11	11	8	3	1	2	0	0	1	2	1	4	1	3	1	2	3	1	1	2	4	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:67588981C>T	ENST00000521381.1	+	9	1688	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R88*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R58*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000523872.1_5'UTR	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	358	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R358*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTTTTTGGTACGAGATGCGTC	0.378			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			43	6					0	0	0	0	T	67588981	C	T	67588981	4	4	479	1	0	0	0	0	0	1	0	0	11990	528	19	1	1232	1	PIK3R1	5	67588981	Nonsense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	12478098	67588981	113326279	159	92054											
PCSK1	5122	broad.mit.edu	37	chr5	95746686	95746686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggaccccttcccctgtCtcccctaaaggaaaagccag	11	7	8	15	0	1	1	0	0	1	1	3	3	2	3	7	2	1	0	7	2	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:95746686C>A	ENST00000311106.3	-	8	1124	c.887G>T	c.(886-888)aGa>aTa	p.R296I	PCSK1_ENST00000508626.1_Missense_Mutation_p.R249I|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	296	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCCCCTGTCTCCCCTAAAG	0.468													38	55					1.06647e-15	1.26908e-15	1	0	A	95746686	C	A	95746686	3	1	479	1	0	0	0	0	1	0	0	0	11671	913	32	2	1402	2	PCSK1	5	95746686	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	28157705	95746686	85168574	160	92055											
MAN2A1	4124	broad.mit.edu	37	chr5	109200755	109200755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggcaatgggcactccAatgaggcagccttgatcctc	9	8	13	11	0	0	2	0	2	0	0	3	2	2	2	3	4	1	3	3	4	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:109200755A>G	ENST00000261483.4	+	21	4242	c.3190A>G	c.(3190-3192)Aat>Gat	p.N1064D	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1064					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			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)		TGGGCACTCCAATGAGGCAGC	0.473													16	22					0	0	0	0	G	109200755	A	G	109200755	3	3	479	1	0	0	0	0	1	0	0	0	9283	130	5	5	3272	5	MAN2A1	5	109200755	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	13454069	109200755	71714505	161	92056											
APC	324	broad.mit.edu	37	chr5	112174713	112174713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctatgaagatgataagcctaCcaattatagtgaacgttact	15	12	7	7	1	0	4	0	3	0	1	0	4	0	4	2	0	4	1	2	0	9	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:112174713C>T	ENST00000457016.1	+	16	3802	c.3422C>T	c.(3421-3423)aCc>aTc	p.T1141I	APC_ENST00000508376.2_Missense_Mutation_p.T1141I|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.T1141I			P25054	APC_HUMAN	adenomatous polyposis coli	1141	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATAAGCCTACCAATTATAGT	0.343		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	48					0	0	0	0	T	112174713	C	T	112174713	3	4	479	1	0	0	0	0	1	0	0	0	764	507	18	4	3480	4	APC	5	112174713	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2973958	112174713	68740547	162	92057											
CDKL3	51265	broad.mit.edu	37	chr5	133702117	133702117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtctctcataaaatatcTtaatggccactatctgccca	11	13	5	12	0	4	0	1	0	3	0	5	0	4	0	2	2	1	0	2	2	5	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:133702117T>C	ENST00000521118.1	-	2	212	c.98A>G	c.(97-99)aAg>aGg	p.K33R	CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000265334.4_Missense_Mutation_p.K33R|CDKL3_ENST00000435211.1_Missense_Mutation_p.K33R|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.K33R|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_Intron			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	33	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAAATATCTTAATGGCCAC	0.358													19	5					0	0	0	0	C	133702117	T	C	133702117	3	2	479	1	0	0	0	0	1	0	0	0	3184	1609	56	5	1732	5	CDKL3	5	133702117	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	21527404	133702117	47213143	163	92058											
HARS2	23438	broad.mit.edu	37	chr5	140078098	140078098	+	Frame_Shift_Del	DEL	T	T	-																															gtggccattaaacgggaaaaTtttgtggctgaaattcagaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140078098delT	ENST00000230771.3	+	13	1705	c.1482delT	c.(1480-1482)aafs	p.N494fs	HARS2_ENST00000508522.1_Frame_Shift_Del_p.N469fs|HARS2_ENST00000432671.2_Frame_Shift_Del_p.N380fs|HARS2_ENST00000435019.2_Frame_Shift_Del_p.N454fs|HARS2_ENST00000437649.2_Frame_Shift_Del_p.N420fs|HARS2_ENST00000448069.2_Frame_Shift_Del_p.N322fs	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	494					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGGGAAAATTTTGTGGCTG	0.398													8	218	---	---	---	---					-	140078098	T	-	140078098	7	5	479	1	0	1	0	1	0	0	0	0	7010	1490	52	0	1532	0	HARS2	5	140078098	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	6375981	140078098	40837162	164	92059											
PCDHB3	56132	broad.mit.edu	37	chr5	140482612	140482612	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtttcaggaagagcttTgaattcagttaagtgttaat	12	14	9	6	0	2	2	2	1	0	1	2	3	2	3	1	1	1	4	1	1	4	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140482612T>C	ENST00000231130.2	+	1	2379	c.2379T>C	c.(2377-2379)ttT>ttC	p.F793F		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		793					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGAGCTTTGAATTCAGTT	0.428													44	55					0	0	0	0	C	140482612	T	C	140482612	2	2	479	1	0	0	0	0	0	0	0	1	11614	1809	63	5		5	PCDHB3	5	140482612	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	404514	140482612	40432648	165	92060											
PCDHB4	56131	broad.mit.edu	37	chr5	140503168	140503168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcgttcgagttccgcGtgggcgcctcagaccgcggt	4	8	16	13	7	1	1	1	0	0	1	3	2	2	1	3	3	1	3	3	3	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140503168G>A	ENST00000194152.1	+	1	1588	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCTC	0.672													84	19					0	0	0	0	A	140503168	G	A	140503168	3	1	479	1	0	0	0	0	1	0	0	0	11615	1145	40	1	1590	1	PCDHB4	5	140503168	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	20556	140503168	40412092	166	92061											
IL17B	27190	broad.mit.edu	37	chr5	148756445	148756445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcctccatgcgggcataCggtttcatccgtgacaccag	8	10	9	14	3	1	1	1	1	0	0	4	1	4	1	4	2	3	2	4	2	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622													54	17					0	0	0	0	T	148756445	C	T	148756445	2	4	479	1	0	0	0	0	0	0	0	1	7688	523	19	1		1	IL17B	5	148756445	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	8253277	148756445	32158815	167	92062											
TCOF1	6949	broad.mit.edu	37	chr5	149755366	149755366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagaaggcagggcctgtagCcgtccaggtcaaggctgaaa	11	6	14	10	1	2	2	2	1	0	1	3	2	3	2	3	4	1	3	3	4	4	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:149755366C>T	ENST00000451292.1	+	12	1895	c.1787C>T	c.(1786-1788)gCc>gTc	p.A596V	TCOF1_ENST00000323668.7_Missense_Mutation_p.A519V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A596V|TCOF1_ENST00000513346.1_Missense_Mutation_p.A596V|TCOF1_ENST00000504761.2_Missense_Mutation_p.A596V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A596V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A519V|TCOF1_ENST00000439160.2_Missense_Mutation_p.A596V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	596					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCCTGTAGCCGTCCAGGTC	0.602													38	55					0	0	0	0	T	149755366	C	T	149755366	3	4	479	1	0	0	0	0	1	0	0	0	15802	739	26	4	1833	4	TCOF1	5	149755366	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	998921	149755366	31159894	168	92063											
STC2	8614	broad.mit.edu	37	chr5	172745210	172745210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggcctccttcacctcCtccccacaggtcagcagcaa	8	8	8	17	0	2	1	2	1	0	0	5	1	5	1	6	2	2	2	6	2	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:172745210C>A	ENST00000265087.4	-	4	1858	c.549G>T	c.(547-549)gaG>gaT	p.E183D	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	183					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTTCACCTCCTCCCCACAGG	0.557													23	4					5.45024e-15	6.4587e-15	1	0	A	172745210	C	A	172745210	3	1	479	1	0	0	0	0	1	0	0	0	15366	680	24	4	363	4	STC2	5	172745210	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	22989844	172745210	8170050	169	92064											
NSD1	64324	broad.mit.edu	37	chr5	176696801	176696802	+	Frame_Shift_Ins	INS	-	-	A																															aaggagtggatgggacatatINSaaaaaaggtaactttatcct																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:176696801_176696802insA	ENST00000439151.2	+	16	5547_5548	c.5502_5503insA	c.(5500-5505)taaaaafs	p.*K1834fs	NSD1_ENST00000361032.4_Frame_Shift_Ins_p.*K1731fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.*K1565fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.*K1565fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1834					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.A1837fs*10(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGGACATATAAAAAAGGTAA	0.426			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			31	19	---	---	---	---					A	176696802	-	A	176696801	7	5	479	1	0	1	1	0	0	0	0	0	10740	1413	49	0	5560	0	NSD1	5	176696801	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	3951591	176696801	4218459	170	92065											
SLC34A1	6569	broad.mit.edu	37	chr5	176824887	176824887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaggcgctggggaaacGcacggccaagtaccgctggt	9	4	16	12	4	0	0	0	0	0	0	0	1	0	1	3	6	2	4	3	6	4	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:176824887G>A	ENST00000324417.5	+	13	1611	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	507					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CTGGGGAAACGCACGGCCAAG	0.607													35	43					0	0	0	0	A	176824887	G	A	176824887	3	1	479	1	0	0	0	0	1	0	0	0	14655	1087	38	1	1657	1	SLC34A1	5	176824887	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	128086	176824887	4090373	171	92066											
F13A1	2162	broad.mit.edu	37	chr6	6174959	6174959	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgatggagagcttgAagtcttttcccagcacagca	11	9	13	8	0	1	3	0	2	1	1	2	5	2	4	1	3	3	3	1	3	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:6174959A>G	ENST00000264870.3	-	12	1866	c.1601T>C	c.(1600-1602)tTc>tCc	p.F534S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	534					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGAGAGCTTGAAGTCTTTTCC	0.493													39	67					0	0	0	0	G	6174959	A	G	6174959	3	3	479	1	0	0	0	0	1	0	0	0	5378	246	9	5	613	5	F13A1	6	6174959	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08		6174959	164940108	172	92067											
DSP	1832	broad.mit.edu	37	chr6	7567636	7567636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagttggattcttcagatcaCcaagtgcattgatgttcatc	10	14	9	8	0	4	2	3	1	1	1	5	4	4	3	1	1	1	3	1	1	1	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:7567636C>T	ENST00000379802.3	+	9	1435	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	DSP_ENST00000418664.2_Missense_Mutation_p.T365I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	365	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCAGATCACCAAGTGCATT	0.378													56	104					0	0	0	0	T	7567636	C	T	7567636	3	4	479	1	0	0	0	0	1	0	0	0	4817	507	18	4	1128	4	DSP	6	7567636	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1392677	7567636	163547431	173	92068											
ATXN1	6310	broad.mit.edu	37	chr6	16307061	16307061	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgtccaaacacaaaaaaAggatactctaccaaaacttc	18	7	3	13	0	1	0	0	0	1	0	3	1	2	1	3	1	4	0	3	1	8	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:16307061A>G	ENST00000244769.4	-	9	2883	c.1947T>C	c.(1945-1947)ccT>ccC	p.P649P	ATXN1_ENST00000436367.1_Silent_p.P649P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	649	AXH.|Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ACACAAAAAAAGGATACTCTA	0.458													22	96					0	0	0	0	G	16307061	A	G	16307061	2	3	479	1	0	0	0	0	0	0	0	1	1213	59	3	5		5	ATXN1	6	16307061	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	8739425	16307061	154808006	174	92069											
HIST1H4A	8359	broad.mit.edu	37	chr6	26022048	26022048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggtgtgaagcggatcTctggtctgatctacgaggag	7	10	17	7	3	3	2	0	2	3	0	4	5	3	4	0	5	2	0	0	5	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:26022048T>C	ENST00000359907.3	+	1	142	c.142T>C	c.(142-144)Tct>Cct	p.S48P		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|skin(1)	2						GAAGCGGATCTCTGGTCTGAT	0.622													36	83					0	0	0	0	C	26022048	T	C	26022048	3	2	479	1	0	0	0	0	1	0	0	0	7215	1551	54	5	144	5	HIST1H4A	6	26022048	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	9714987	26022048	145093019	175	92070											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacgacatcttcgagcGcatcgccggcgaggcttccc	7	8	11	15	6	2	0	1	0	1	0	5	3	3	0	2	2	2	2	2	2	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597													6	228					0	0	0	0	A	26184241	G	A	26184241	3	1	479	1	0	0	0	0	1	0	0	0	7194	1087	38	1	220	1	HIST1H2BE	6	26184241	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	162193	26184241	144930826	176	92071											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27783013	27783013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggctatgggaatcatgaaCtccttcgtcaacgacatctt	12	11	8	10	2	3	1	2	1	1	0	5	3	4	2	1	2	2	1	1	2	5	3	rs146702958		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:27783013C>G	ENST00000359465.4	+	1	192	c.192C>G	c.(190-192)aaC>aaG	p.N64K		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	64					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAATCATGAACTCCTTCGTCA	0.557													92	119					0	0	0	0	G	27783013	C	G	27783013	3	3	479	1	0	0	0	0	1	0	0	0	7202	564	20	4	194	4	HIST1H2BM	6	27783013	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1598772	27783013	143332054	177	92072											
MDC1	9656	broad.mit.edu	37	chr6	30680659	30680659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accccttgtacctactccatGgaagatcttcctcttcttca	8	14	4	15	0	4	1	1	0	3	1	6	2	6	2	5	1	2	1	5	1	3	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:30680659G>A	ENST00000376406.3	-	5	1707	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y	MDC1_ENST00000376405.2_Missense_Mutation_p.H354Y|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	354	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCTACTCCATGGAAGATCTTC	0.552								Other conserved DNA damage response genes					26	154					0	0	0	0	A	30680659	G	A	30680659	3	1	479	1	0	0	0	0	1	0	0	0	9472	1348	47	4	5253	4	MDC1	6	30680659	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2897646	30680659	140434408	178	92073											
SLC44A4	80736	broad.mit.edu	37	chr6	31842534	31842535	+	Frame_Shift_Ins	INS	-	-	T																															ctggcagacaaaagttcctgINSttttttgtatagaagacttc																								rs114957103	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:31842534_31842535insT	ENST00000544672.1	-	6	499_500	c.203_204insA	c.(202-204)aagfs	p.K68fs	SLC44A4_ENST00000229729.6_Frame_Shift_Ins_p.K144fs|SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000465707.1_5'UTR	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	144						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAAAGTTCCTGTTTTTTGTATA	0.545													21	77	---	---	---	---					T	31842535	-	T	31842534	7	5	479	1	0	1	1	0	0	0	0	0	14726	1368	48	0	1764	0	SLC44A4	6	31842534	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1161875	31842534	139272533	179	92074											
LEMD2	221496	broad.mit.edu	37	chr6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctacatatggatagcGctccatgtcctgctcccagt	8	11	9	13	1	0	0	0	0	0	0	3	2	3	1	4	1	4	2	4	1	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	435						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617													57	77					0	0	0	0	A	33744789	G	A	33744789	3	1	479	1	0	0	0	0	1	0	0	0	8773	1087	38	1	216	1	LEMD2	6	33744789	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1902255	33744789	137370278	180	92075											
CUL7	9820	broad.mit.edu	37	chr6	43006186	43006186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcgacctgggttccttgCtgccatctcgaatcttgagg	6	13	10	12	2	3	1	0	1	3	0	6	3	4	1	3	2	2	2	3	2	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:43006186C>T	ENST00000535468.1	-	25	4930	c.4844G>A	c.(4843-4845)aGc>aAc	p.S1615N	CUL7_ENST00000265348.3_Missense_Mutation_p.S1531N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1531					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			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)			GGGTTCCTTGCTGCCATCTCG	0.582													8	118					0	0	0	0	T	43006186	C	T	43006186	3	4	479	1	0	0	0	0	1	0	0	0	4092	797	28	4	512	4	CUL7	6	43006186	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	9261397	43006186	128108881	181	92076											
CUL7	9820	broad.mit.edu	37	chr6	43018713	43018713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccactcacctgcacaGgaggcacaccgttgttgctc	8	9	10	14	1	1	0	1	0	0	0	2	1	1	1	3	2	3	5	3	2	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:43018713G>A	ENST00000535468.1	-	4	1564	c.1478C>T	c.(1477-1479)cCt>cTt	p.P493L	CUL7_ENST00000265348.3_Missense_Mutation_p.P409L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	409					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			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)			CACCTGCACAGGAGGCACACC	0.602													4	107					0	0	0	0	A	43018713	G	A	43018713	3	1	479	1	0	0	0	0	1	0	0	0	4092	1000	35	4	3962	4	CUL7	6	43018713	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	12527	43018713	128096354	182	92077											
CYP39A1	51302	broad.mit.edu	37	chr6	46609912	46609912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttacctgtacgataaaCgatattttgcactgctagtt	10	17	6	8	2	1	0	0	0	1	0	1	2	1	0	1	0	5	4	1	0	6	10			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:46609912C>T	ENST00000275016.2	-	2	504	c.301G>A	c.(301-303)Gtt>Att	p.V101I		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	101					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GTACGATAAACGATATTTTGC	0.333													20	32					0	0	0	0	T	46609912	C	T	46609912	3	4	479	1	0	0	0	0	1	0	0	0	4209	536	19	1	1152	1	CYP39A1	6	46609912	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3591199	46609912	124505155	183	92078											
KCNQ5	56479	broad.mit.edu	37	chr6	73787199	73787199	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggaaattactgggttcAgtggtttatgctcacagcaa	11	13	10	7	0	2	0	2	0	0	0	2	1	2	1	0	3	3	4	0	3	4	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:73787199A>G	ENST00000342056.2	+	4	1169	c.771A>G	c.(769-771)tcA>tcG	p.S257S	KCNQ5_ENST00000355194.4_Silent_p.S257S|KCNQ5_ENST00000370398.1_Silent_p.S257S|KCNQ5_ENST00000414165.2_Silent_p.S257S|KCNQ5_ENST00000355635.3_Silent_p.S257S|KCNQ5_ENST00000402622.2_Silent_p.S257S|KCNQ5_ENST00000403813.2_Silent_p.S257S|KCNQ5_ENST00000370392.1_Silent_p.S257S	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	257					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TACTGGGTTCAGTGGTTTATG	0.418													36	38					0	0	0	0	G	73787199	A	G	73787199	2	3	479	1	0	0	0	0	0	0	0	1	8139	175	7	5		5	KCNQ5	6	73787199	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	27177287	73787199	97327868	184	92079											
SH3BGRL2	83699	broad.mit.edu	37	chr6	80406213	80406213	+	Frame_Shift_Del	DEL	T	T	-																															tttttctaggattatgacagTttttttgaatccaaggaaag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:80406213delT	ENST00000369838.4	+	3	422	c.243delT	c.(241-243)agfs	p.S81fs		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	81						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		ATTATGACAGTTTTTTTGAAT	0.313													67	113	---	---	---	---					-	80406213	T	-	80406213	7	5	479	1	0	1	0	1	0	0	0	0	14329	1722	60	0	253	0	SH3BGRL2	6	80406213	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	6619014	80406213	90708854	185	92080											
DOPEY1	23033	broad.mit.edu	37	chr6	83848263	83848263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactcttcactgagctggCaaaagtaatagaaagctcag	15	9	8	9	0	3	2	2	1	1	1	3	2	3	2	0	1	3	4	0	1	6	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:83848263C>T	ENST00000349129.2	+	21	4762	c.4502C>T	c.(4501-4503)gCa>gTa	p.A1501V	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.A1492V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.A1482V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1501					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTGAGCTGGCAAAAGTAATA	0.373													28	98					0	0	0	0	T	83848263	C	T	83848263	3	4	479	1	0	0	0	0	1	0	0	0	4743	710	25	4	4576	4	DOPEY1	6	83848263	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3442050	83848263	87266804	186	92081											
POU3F2	5454	broad.mit.edu	37	chr6	99283725	99283725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaacatgtgcaagctgaagCctttgttgaacaagtggttg	12	11	12	6	0	0	3	0	2	0	1	0	3	0	3	1	1	5	4	1	1	5	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:99283725C>T	ENST00000328345.5	+	1	1146	c.976C>T	c.(976-978)Cct>Tct	p.P326S		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	326	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CAAGCTGAAGCCTTTGTTGAA	0.587													41	186					0	0	0	0	T	99283725	C	T	99283725	3	4	479	1	0	0	0	0	1	0	0	0	12346	739	26	4	978	4	POU3F2	6	99283725	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	15435462	99283725	71831342	187	92082											
ASCC3	10973	broad.mit.edu	37	chr6	101215218	101215218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttaaaagccagctgtcCgatctaaaaaaaaaaggcat	17	9	6	9	1	1	0	0	0	1	0	3	1	3	0	3	1	2	2	3	1	7	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:101215218C>T	ENST00000369162.2	-	9	1743	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	ASCC3_ENST00000522650.1_Missense_Mutation_p.G467R	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.G467*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCCAGCTGTCCGATCTAAAAA	0.348													53	61					0	0	0	0	T	101215218	C	T	101215218	3	4	479	1	0	0	0	0	1	0	0	0	1037	661	23	1	5345	1	ASCC3	6	101215218	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1931493	101215218	69899849	188	92083											
POPDC3	64208	broad.mit.edu	37	chr6	105606515	105606515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctgcaatgtcactgcCaattagcactgaaaaaaggc	14	11	7	9	0	2	1	1	1	1	0	2	1	2	1	1	1	3	2	1	1	7	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:105606515C>A	ENST00000254765.3	-	4	984	c.706G>T	c.(706-708)Ggc>Tgc	p.G236C	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	236						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATGTCACTGCCAATTAGCACT	0.393													6	318					5.4927e-09	6.16307e-09	1	0	A	105606515	C	A	105606515	3	1	479	1	0	0	0	0	1	0	0	0	12328	594	21	4	173	4	POPDC3	6	105606515	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4391297	105606515	65508552	189	92084											
BEND3	57673	broad.mit.edu	37	chr6	107389947	107389947	+	Frame_Shift_Del	DEL	T	T	-																															gctttcttgaggatgtcgcaTtttttcctgttggggcggcg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:107389947delT	ENST00000429433.2	-	5	3097	c.2448delA	c.(2446-2448)aafs	p.K816fs	BEND3_ENST00000369042.1_Frame_Shift_Del_p.K816fs	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	816	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGATGTCGCATTTTTTCCTGT	0.577													57	75	---	---	---	---					-	107389947	T	-	107389947	7	5	479	1	0	1	0	1	0	0	0	0	1403	1490	52	0	42	0	BEND3	6	107389947	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	1783432	107389947	63725120	190	92085											
SCML4	256380	broad.mit.edu	37	chr6	108076790	108076791	+	Frame_Shift_Ins	INS	-	-	G																															aaacctctctccagtggaatINSgggggggttctctgcctgtc																								rs75302347		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:108076790_108076791insG	ENST00000369021.3	-	1	52_53	c.53_54insC	c.(52-54)cttfs	p.L18fs	SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCCAGTGGAATGGGGGGGTTCT	0.48													23	115	---	---	---	---					G	108076791	-	G	108076790	7	5	479	1	0	1	1	0	0	0	0	0	13998	1479	51	0		0	SCML4	6	108076790	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	686843	108076790	63038277	191	92086											
RPF2	84154	broad.mit.edu	37	chr6	111329324	111329324	+	Frame_Shift_Del	DEL	A	A	-																															acagaagattatagaagactAaaaagtcttcttattggtaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:111329324delA	ENST00000441448.2	+	7	569	c.477delA	c.(475-477)ctfs	p.L159fs		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	159	Brix.					nucleolus	protein binding	p.L159_S161del(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						ATAGAAGACTAAAAAGTCTTC	0.353													22	95	---	---	---	---					-	111329324	A	-	111329324	7	5	479	1	0	1	0	1	0	0	0	0	13632	349	13	0	503	0	RPF2	6	111329324	Frame_Shift_Del	DEL	A	TCGA-QK-A6VB-01A-12D-A34J-08	3252534	111329324	59785743	192	92087											
TUBE1	51175	broad.mit.edu	37	chr6	112395985	112395985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgagataatgaagttgaGgaaaaggaactaaattcatg	19	8	10	4	1	1	3	1	2	0	1	1	6	1	5	0	2	1	1	0	2	7	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:112395985G>A	ENST00000368662.5	-	9	959	c.881C>T	c.(880-882)cCt>cTt	p.P294L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	294					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ATGAAGTTGAGGAAAAGGAAC	0.333													26	58					0	0	0	0	A	112395985	G	A	112395985	3	1	479	1	0	0	0	0	1	0	0	0	16859	1000	35	4	562	4	TUBE1	6	112395985	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1066661	112395985	58719082	193	92088											
GOPC	57120	broad.mit.edu	37	chr6	117884426	117884426	+	Frame_Shift_Del	DEL	T	T	-																															atatggtcaatttaataagaTtttttatgatacagagtgtg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:117884426delT	ENST00000535237.1	-	9	1609	c.1380delA	c.(1378-1380)aafs	p.K460fs	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Intron|GOPC_ENST00000368498.2_Frame_Shift_Del_p.K460fs|GOPC_ENST00000052569.6_Frame_Shift_Del_p.K452fs					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TTTAATAAGATTTTTTATGAT	0.408			O	ROS1	glioblastoma								36	126	---	---	---	---					-	117884426	T	-	117884426	7	5	479	1	0	1	0	1	0	0	0	0	6621	1490	52	0	12	0	GOPC	6	117884426	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	5488441	117884426	53230641	194	92089											
SERINC1	57515	broad.mit.edu	37	chr6	122779664	122779664	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaataagaaacgagactaaCcttattcagttgttcttcca	15	13	5	8	1	2	2	1	0	1	2	3	3	3	2	2	0	2	2	2	0	6	8			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:122779664C>A	ENST00000368454.1	-	4	531		c.e4+1		SERINC1_ENST00000339697.3_Splice_Site			Q9NRX5	SERC1_HUMAN	serine incorporator 1						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ACGAGACTAACCTTATTCAGT	0.323													23	99					2.39556e-15	2.84473e-15	1	0	A	122779664	C	A	122779664	5	1	479	1	0	0	0	0	0	0	1	0	14166	521	18	4	1195	4	SERINC1	6	122779664	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4895238	122779664	48335403	195	92090											
TRDN	10345	broad.mit.edu	37	chr6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A																															ctacaatagagatctttaagINSaaaaaaaaaagtacttgcct																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)ttafs	p.L297fs	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000398178.3_Intron|TRDN_ENST00000334268.4_Intron	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													3	5	---	---	---	---					A	123786033	-	A	123786032	7	5	479	1	0	1	1	0	0	0	0	0	16563	957	33	0		0	TRDN	6	123786032	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1006368	123786032	47329035	196	92091											
IL20RA	53832	broad.mit.edu	37	chr6	137323366	137323366	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatacatcactgctttttcCcagtaaactcatatcctgat	11	14	5	11	0	2	1	2	1	0	0	4	2	4	2	2	1	3	2	2	1	4	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:137323366C>A	ENST00000367748.1	-	6	1244	c.658G>T	c.(658-660)Gga>Tga	p.G220*	IL20RA_ENST00000316649.5_Nonsense_Mutation_p.G331*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.G282*			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	331	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGCTTTTTCCCAGTAAACTC	0.433													47	61					1.76056e-25	2.16275e-25	1	0	A	137323366	C	A	137323366	4	1	479	1	0	0	0	0	0	1	0	0	7721	632	22	4	674	4	IL20RA	6	137323366	Nonsense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	13537334	137323366	33791701	197	92092											
PLAGL1	5325	broad.mit.edu	37	chr6	144263510	144263510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttccttggttccgctaGggggcttctcttccgcatgg	2	16	11	12	2	2	0	0	0	2	0	6	0	5	0	3	4	0	4	3	4	1	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:144263510G>A	ENST00000360537.2	-	5	2356	c.443C>T	c.(442-444)cCt>cTt	p.P148L	PLAGL1_ENST00000437412.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000444202.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000392309.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000416623.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000367572.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000392307.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000367571.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000429150.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000354765.2_Missense_Mutation_p.P148L			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	148					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTTCCGCTAGGGGGCTTCTC	0.607											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	62					0	0	0	0	A	144263510	G	A	144263510	3	1	479	1	0	0	0	0	1	0	0	0	12091	1000	35	4	952	4	PLAGL1	6	144263510	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	6940144	144263510	26851557	198	92093											
GRM1	2911	broad.mit.edu	37	chr6	146720454	146720454	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggcccctttgggctacaAtggactcctcatcatgagct	7	11	11	12	0	2	1	2	1	0	0	3	2	3	2	3	4	2	2	3	4	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:146720454A>T	ENST00000392299.2	+	8	2749	c.2279A>T	c.(2278-2280)aAt>aTt	p.N760I	GRM1_ENST00000282753.1_Missense_Mutation_p.N760I|GRM1_ENST00000507907.1_Missense_Mutation_p.N760I|GRM1_ENST00000361719.2_Missense_Mutation_p.N760I|GRM1_ENST00000355289.4_Missense_Mutation_p.N760I|GRM1_ENST00000492807.2_Missense_Mutation_p.N760I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	760					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTGGGCTACAATGGACTCCTC	0.517													32	120					0	0	0	0	T	146720454	A	T	146720454	3	4	479	1	0	0	0	0	1	0	0	0	6846	101	4	5	2305	5	GRM1	6	146720454	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	2456944	146720454	24394613	199	92094											
ARID1B	57492	broad.mit.edu	37	chr6	157528599	157528599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcctccatttagtcgtcaGgagaaattctatgctacatt	11	14	6	10	1	2	1	1	0	1	1	5	2	4	1	2	1	2	1	2	1	4	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:157528599G>T	ENST00000346085.5	+	20	6325	c.6324G>T	c.(6322-6324)caG>caT	p.Q2108H	ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2148H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2090H|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2095H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2095					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTAGTCGTCAGGAGAAATTCT	0.488													36	419					3.03874e-20	3.68528e-20	1	0	T	157528599	G	T	157528599	3	4	479	1	0	0	0	0	1	0	0	0	916	991	35	4	6402	4	ARID1B	6	157528599	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	10808145	157528599	13586468	200	92095											
LPA	4018	broad.mit.edu	37	chr6	160969620	160969620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtactcccacctgatgCtggggtccatggtaaaacac	10	9	10	12	0	0	1	0	1	0	0	2	1	2	1	3	3	4	4	3	3	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:160969620C>A	ENST00000447678.1	-	32	5165	c.5045G>T	c.(5044-5046)aGc>aTc	p.S1682I	LPA_ENST00000316300.5_Missense_Mutation_p.S1682I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4190	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCACCTGATGCTGGGGTCCAT	0.532													74	86					3.76054e-38	4.72138e-38	1	0	A	160969620	C	A	160969620	3	1	479	1	0	0	0	0	1	0	0	0	8967	797	28	4	1113	4	LPA	6	160969620	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3441021	160969620	10145447	201	92096											
QKI	9444	broad.mit.edu	37	chr6	163984541	163984541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccaccagctgccctgCgtactcctacgccagctggc	5	9	8	19	2	1	0	0	0	1	0	3	0	2	0	5	1	6	3	5	1	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:163984541C>T	ENST00000361752.3	+	6	1275	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	QKI_ENST00000392127.2_Missense_Mutation_p.R242C|QKI_ENST00000424802.3_Missense_Mutation_p.R234C|QKI_ENST00000361195.2_Missense_Mutation_p.R234C|QKI_ENST00000453779.2_Missense_Mutation_p.R242C|QKI_ENST00000275262.7_Missense_Mutation_p.R242C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	242					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGCTGCCCTGCGTACTCCTAC	0.557													19	62					0	0	0	0	T	163984541	C	T	163984541	3	4	479	1	0	0	0	0	1	0	0	0	12955	768	27	1	746	1	QKI	6	163984541	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3014921	163984541	7130526	202	92097											
THBS2	7058	broad.mit.edu	37	chr6	169640616	169640616	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaaagaaccggccatcctgCcagcaagctgacatgttcct	11	7	9	14	1	0	2	0	1	0	1	2	2	2	2	5	1	4	4	5	1	3	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:169640616C>T	ENST00000366787.3	-	7	1212	c.963G>A	c.(961-963)tgG>tgA	p.W321*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	321	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCCATCCTGCCAGCAAGCTG	0.517													5	107					0	0	0	0	T	169640616	C	T	169640616	4	4	479	1	0	0	0	0	0	1	0	0	15948	740	26	4	2623	4	THBS2	6	169640616	Nonsense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5656075	169640616	1474451	203	92098											
SUN3	256979	broad.mit.edu	37	chr7	48068414	48068414	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctgccatgtttacctacCcattcgcatcaggattttcg	7	15	7	12	2	2	0	1	0	1	0	4	1	2	1	3	1	3	3	3	1	2	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:48068414C>A	ENST00000297325.4	-	1	281	c.122_splice	c.e1+1	p.G41_splice	SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000395572.2_Splice_Site_p.G41_splice	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	41						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTACCTACCCATTCGCATC	0.463													23	100					7.41877e-09	8.27534e-09	1	0	A	48068414	C	A	48068414	5	1	479	1	0	0	0	0	0	0	1	0	15483	637	22	4	991	4	SUN3	7	48068414	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08		48068414	111070249	204	92099											
POM121	9883	broad.mit.edu	37	chr7	72413825	72413825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacaccatcacccttcaCgtttgggggttcggcagccc	8	8	9	16	2	2	0	2	0	0	0	3	0	2	0	3	3	2	3	3	3	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:72413825C>T	ENST00000395270.1	+	14	3539	c.2498C>T	c.(2497-2499)aCg>aTg	p.T833M	POM121_ENST00000446813.1_Missense_Mutation_p.T833M|POM121_ENST00000358357.3_Missense_Mutation_p.T833M|POM121_ENST00000434423.2_Missense_Mutation_p.T1098M|POM121_ENST00000257622.4_Missense_Mutation_p.T833M	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1098	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TCACCCTTCACGTTTGGGGGT	0.642													9	26					0	0	0	0	T	72413825	C	T	72413825	3	4	479	1	0	0	0	0	1	0	0	0	12311	536	19	1	2536	1	POM121	7	72413825	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	24345411	72413825	86724838	205	92100											
CASD1	64921	broad.mit.edu	37	chr7	94185016	94185017	+	Frame_Shift_Ins	INS	-	-	T																															ggttggcatgtatagctgcaINStttttttgtggactcctcat																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:94185016_94185017insT	ENST00000297273.4	+	18	2627_2628	c.2340_2341insT	c.(2338-2343)gcttttfs	p.AF780fs		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	780						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTATAGCTGCATTTTTTTGTGG	0.342													12	86	---	---	---	---					T	94185017	-	T	94185016	7	5	479	1	0	1	1	0	0	0	0	0	2689	204	8	0	2410	0	CASD1	7	94185016	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	21771191	94185016	64953647	206	92101											
CBLL1	79872	broad.mit.edu	37	chr7	107399402	107399402	+	Frame_Shift_Del	DEL	C	C	-																															gtggtccacctgtaactgcaCcccctcctcaccattataat																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:107399402delC	ENST00000440859.2	+	6	1722	c.1255delC	c.(1255-1257)ccfs	p.P421fs	CBLL1_ENST00000222597.2_Frame_Shift_Del_p.P420fs	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	421	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGTAACTGCACCCCCTCCTCA	0.517													37	82	---	---	---	---					-	107399402	C	-	107399402	7	5	479	1	0	1	0	1	0	0	0	0	2728	507	18	0	1277	0	CBLL1	7	107399402	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	13214386	107399402	51739261	207	92102											
WNT16	51384	broad.mit.edu	37	chr7	120979211	120979211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaactgggaatcccaGggacacaaggcagagaatgc	17	4	12	8	0	0	2	0	0	0	2	1	5	1	4	1	3	2	1	1	3	5	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:120979211G>T	ENST00000222462.2	+	4	1200	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	WNT16_ENST00000361301.2_Missense_Mutation_p.G294W	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	304					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GGGAATCCCAGGGACACAAGG	0.473													4	39					0.00024832	0.000262116	1	0	T	120979211	G	T	120979211	3	4	479	1	0	0	0	0	1	0	0	0	17481	1000	35	4	993	4	WNT16	7	120979211	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	13579809	120979211	38159452	208	92103											
HYAL4	23553	broad.mit.edu	37	chr7	123508423	123508423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttattctaaagtctatCtcttgtctaaaacctgctcg	9	19	4	9	1	4	0	0	0	4	0	6	0	4	0	1	0	2	1	1	0	6	8			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:123508423C>T	ENST00000223026.4	+	3	734	c.96C>T	c.(94-96)atC>atT	p.I32I	HYAL4_ENST00000476325.1_Silent_p.I32I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	32					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAAAGTCTATCTCTTGTCTAA	0.328													37	83					0	0	0	0	T	123508423	C	T	123508423	2	4	479	1	0	0	0	0	0	0	0	1	7519	903	32	2		2	HYAL4	7	123508423	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2529212	123508423	35630240	209	92104											
PAX4	5078	broad.mit.edu	37	chr7	127253865	127253865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtccgattccggtggccGgtccctgggtgggtaccccg	4	9	15	13	4	0	0	0	0	0	0	3	1	3	0	6	5	1	1	6	5	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:127253865G>A	ENST00000341640.2	-	4	688	c.483C>T	c.(481-483)acC>acT	p.T161T	PAX4_ENST00000463946.1_Silent_p.T159T|PAX4_ENST00000338516.3_Silent_p.T169T|PAX4_ENST00000378740.2_Silent_p.T161T	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	169					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCGGTGGCCGGTCCCTGGGT	0.577													46	33					0	0	0	0	A	127253865	G	A	127253865	2	1	479	1	0	0	0	0	0	0	0	1	11552	1103	39	1		1	PAX4	7	127253865	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3745442	127253865	31884798	210	92105											
TNPO3	23534	broad.mit.edu	37	chr7	128640604	128640604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatagttcagtgaaaataCggcagtaattcagaactctg	15	10	8	8	1	3	2	2	1	1	1	3	2	3	2	0	1	2	3	0	1	6	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:128640604C>T	ENST00000393245.1	-	7	1263	c.890G>A	c.(889-891)cGt>cAt	p.R297H	TNPO3_ENST00000482320.1_Missense_Mutation_p.R231H|TNPO3_ENST00000265388.5_Missense_Mutation_p.R297H|TNPO3_ENST00000471166.1_Missense_Mutation_p.R297H|TNPO3_ENST00000471234.1_Missense_Mutation_p.R297H	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	297					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGTGAAAATACGGCAGTAATT	0.378													25	60					0	0	0	0	T	128640604	C	T	128640604	3	4	479	1	0	0	0	0	1	0	0	0	16431	536	19	1	1945	1	TNPO3	7	128640604	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1386739	128640604	30498059	211	92106											
KIAA1147	57189	broad.mit.edu	37	chr7	141364990	141364990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggccccgtactcacaggCcacataggacacctctacct	10	6	9	16	1	2	0	1	0	1	0	2	2	2	1	5	3	2	1	5	3	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:141364990C>T	ENST00000536163.1	-	6	948	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	KIAA1147_ENST00000482493.1_Missense_Mutation_p.A213T	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	317										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TACTCACAGGCCACATAGGAC	0.617													20	16					0	0	0	0	T	141364990	C	T	141364990	3	4	479	1	0	0	0	0	1	0	0	0	8261	739	26	4	434	4	KIAA1147	7	141364990	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	12724386	141364990	17773673	212	92107											
MGAM	8972	broad.mit.edu	37	chr7	141767225	141767225	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccctgtcctggagcgCgtgagtatggaggcctccga	6	8	15	12	3	1	1	1	1	0	0	3	4	3	3	4	3	2	1	4	3	1	1	rs7778384	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:141767225C>T	ENST00000475668.2	+	42	5058	c.5004_splice	c.e42+1	p.R1668_splice	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1668	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592													4	69					0	0	0	0	T	141767225	C	T	141767225	5	4	479	1	0	0	0	0	0	0	1	0	9610	783	27	1		1	MGAM	7	141767225	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	402235	141767225	17371438	213	92108											
OR6V1	346517	broad.mit.edu	37	chr7	142749550	142749551	+	Frame_Shift_Ins	INS	-	-	G																															ctttatcttctcgccttcatINSgggaaacaccatcatcatag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:142749550_142749551insG	ENST00000418316.1	+	1	134_135	c.113_114insG	c.(112-114)aggfs	p.R38fs		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTCGCCTTCATGGGAAACACCA	0.5													55	169	---	---	---	---					G	142749551	-	G	142749550	7	5	479	1	0	1	1	0	0	0	0	0	11282	1464	51	0	115	0	OR6V1	7	142749550	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	982325	142749550	16389113	214	92109											
PDIA4	9601	broad.mit.edu	37	chr7	148718078	148718078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggagcataaaactccaGcagcactgtgtctttgtcag	11	10	9	11	0	2	0	1	0	1	0	3	1	3	1	2	1	4	3	2	1	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:148718078G>A	ENST00000286091.4	-	2	482	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	84	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TAAAACTCCAGCAGCACTGTG	0.473													10	24					0	0	0	0	A	148718078	G	A	148718078	2	1	479	1	0	0	0	0	0	0	0	1	11741	962	34	4		4	PDIA4	7	148718078	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5968528	148718078	10420585	215	92110											
SHH	6469	broad.mit.edu	37	chr7	155595700	155595700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagtggatgcccgcggtgGcccccgcacccggagcgtcg	5	4	15	17	6	0	0	0	0	0	0	1	2	0	2	5	4	2	1	5	4	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:155595700G>A	ENST00000297261.2	-	3	1433	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	428					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCGCGGTGGCCCCCGCACC	0.736													7	15					0	0	0	0	A	155595700	G	A	155595700	3	1	479	1	0	0	0	0	1	0	0	0	14367	1203	42	4	109	4	SHH	7	155595700	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	6877622	155595700	3542963	216	92111											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---					-	6673270	A	-	6673270	6	5	479	0	1	1	0	1	0	0	0	0	17530	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-QK-A6VB-01A-12D-A34J-08		6673270	139690752	217	92112											
LONRF1	91694	broad.mit.edu	37	chr8	12598402	12598402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttttgtacttgcagctttGcaggtgcaaaatcttcatca	9	15	7	10	0	3	0	2	0	1	0	3	0	3	0	1	1	5	5	1	1	3	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:12598402G>A	ENST00000398246.3	-	3	1013	c.944C>T	c.(943-945)gCa>gTa	p.A315V	LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	315					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTGCAGCTTTGCAGGTGCAAA	0.388													33	112					0	0	0	0	A	12598402	G	A	12598402	3	1	479	1	0	0	0	0	1	0	0	0	8958	1319	46	4	1417	4	LONRF1	8	12598402	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5925132	12598402	133765620	218	92113											
LPL	4023	broad.mit.edu	37	chr8	19805817	19805817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtcatttcaatcacaGcagcaaaaccttcatggtga	13	11	6	11	0	4	1	4	1	0	0	4	1	4	1	2	1	4	2	2	1	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:19805817G>A	ENST00000311322.8	+	2	685	c.215G>A	c.(214-216)aGc>aAc	p.S72N	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	72					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TTCAATCACAGCAGCAAAACC	0.532													4	90					0	0	0	0	A	19805817	G	A	19805817	3	1	479	1	0	0	0	0	1	0	0	0	8985	971	34	4	221	4	LPL	8	19805817	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7207415	19805817	126558205	219	92114											
SORBS3	10174	broad.mit.edu	37	chr8	22432192	22432192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaggtgtctcccggaGgacccagaaattcggaacgt	9	10	11	11	3	3	1	1	0	2	1	5	4	3	4	2	4	1	0	2	4	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:22432192G>T	ENST00000240123.7	+	21	2350	c.1967G>T	c.(1966-1968)aGg>aTg	p.R656M	SORBS3_ENST00000428103.1_Missense_Mutation_p.R314M	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	656	Binds to SOS.|SH3 3.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	p.R656M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GTCTCCCGGAGGACCCAGAAA	0.612											OREG0018613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	180					2.02627e-32	2.52178e-32	1	0	T	22432192	G	T	22432192	3	4	479	1	0	0	0	0	1	0	0	0	15017	1000	35	4	2045	4	SORBS3	8	22432192	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2626375	22432192	123931830	220	92115											
CCDC25	55246	broad.mit.edu	37	chr8	27593739	27593739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttctccttttacatGaattcatctgaatcattgcc	8	18	3	12	0	4	2	2	2	2	0	6	2	5	2	3	0	2	0	3	0	3	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:27593739G>T	ENST00000356537.4	-	9	714	c.621C>A	c.(619-621)ttC>ttA	p.F207L	CCDC25_ENST00000539095.1_Missense_Mutation_p.F139L|CCDC25_ENST00000522915.1_Missense_Mutation_p.F139L|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	207										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CCTTTTACATGAATTCATCTG	0.289													40	37					1.32136e-16	1.58897e-16	1	0	T	27593739	G	T	27593739	3	4	479	1	0	0	0	0	1	0	0	0	2826	1281	45	2	9	2	CCDC25	8	27593739	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5161547	27593739	118770283	221	92116											
KIF13B	23303	broad.mit.edu	37	chr8	29018290	29018290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcattcagagctgggtcaGcattcagattcacaaggaag	12	9	11	9	0	5	2	5	0	0	2	5	3	5	3	0	2	2	3	0	2	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:29018290G>A	ENST00000524189.1	-	13	1402	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A455V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	455					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCTGGGTCAGCATTCAGATT	0.388													5	69					0	0	0	0	A	29018290	G	A	29018290	3	1	479	1	0	0	0	0	1	0	0	0	8326	971	34	4	4228	4	KIF13B	8	29018290	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1424551	29018290	117345732	222	92117											
PRKDC	5591	broad.mit.edu	37	chr8	48746868	48746868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcactcctcttgtgggCaaacagcaaggagtcagatg	10	10	10	11	0	3	1	2	0	1	1	4	2	4	2	2	2	2	2	2	2	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:48746868C>T	ENST00000314191.2	-	60	8094	c.8038G>A	c.(8038-8040)Gcc>Acc	p.A2680T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A2680T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2681	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCTTGTGGGCAAACAGCAAG	0.542								Non-homologous end-joining					69	266					0	0	0	0	T	48746868	C	T	48746868	3	4	479	1	0	0	0	0	1	0	0	0	12601	710	25	4	4457	4	PRKDC	8	48746868	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	19728578	48746868	97617154	223	92118											
ATP6V1H	51606	broad.mit.edu	37	chr8	54682246	54682246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaatttctcagatttgtgCacaggactccattccaacct	12	12	5	12	0	1	1	1	0	1	1	4	2	3	2	3	1	2	1	3	1	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:54682246C>T	ENST00000355221.3	-	10	1612	c.1053G>A	c.(1051-1053)gtG>gtA	p.V351V	ATP6V1H_ENST00000396774.2_Silent_p.V369V|ATP6V1H_ENST00000523899.1_5'UTR|ATP6V1H_ENST00000520188.1_Silent_p.V329V|ATP6V1H_ENST00000359530.2_Silent_p.V369V	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	369					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CAGATTTGTGCACAGGACTCC	0.313													5	100					0	0	0	0	T	54682246	C	T	54682246	2	4	479	1	0	0	0	0	0	0	0	1	1193	697	25	4		4	ATP6V1H	8	54682246	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5935378	54682246	91681776	224	92119											
RP1	6101	broad.mit.edu	37	chr8	55538415	55538416	+	Frame_Shift_Ins	INS	-	-	A																															tgtggtttaacaaaacttccINSaaaaaatgaaaagaagattt																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:55538415_55538416insA	ENST00000220676.1	+	4	2121_2122	c.1973_1974insA	c.(1972-1974)caafs	p.Q658fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	658					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAAACTTCCAAAAAATGAAA	0.366													14	82	---	---	---	---					A	55538416	-	A	55538415	7	5	479	1	0	1	1	0	0	0	0	0	13617	594	21	0	1983	0	RP1	8	55538415	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	856169	55538415	90825607	225	92120											
KCNB2	9312	broad.mit.edu	37	chr8	73479974	73479974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtccagttcaaaatggCagaaaaggctcccccgggct	10	9	10	12	1	1	1	1	0	0	1	3	1	3	1	3	3	0	4	3	3	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:73479974C>T	ENST00000523207.1	+	2	593	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	2					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTCAAAATGGCAGAAAAGGCT	0.512													27	120					0	0	0	0	T	73479974	C	T	73479974	3	4	479	1	0	0	0	0	1	0	0	0	8066	710	25	4	7	4	KCNB2	8	73479974	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	17941559	73479974	72884048	226	92121											
RIPK2	8767	broad.mit.edu	37	chr8	90796344	90796344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaattatctctgaacataCctgtaaatcatggtccacaa	14	12	6	9	0	2	1	1	1	1	0	4	2	3	2	2	2	2	1	2	2	7	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:90796344C>T	ENST00000220751.4	+	8	1320	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	RIPK2_ENST00000540020.1_Missense_Mutation_p.P199S	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	336					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|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	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCTGAACATACCTGTAAATCA	0.269													17	88					0	0	0	0	T	90796344	C	T	90796344	3	4	479	1	0	0	0	0	1	0	0	0	13466	507	18	4	1036	4	RIPK2	8	90796344	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	17316370	90796344	55567678	227	92122											
INTS8	55656	broad.mit.edu	37	chr8	95837161	95837161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagttcagtttttggaacaGgcttccaaaccttcagttaa	12	14	7	8	0	2	0	2	0	0	0	3	1	3	1	2	2	2	4	2	2	4	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:95837161G>A	ENST00000523731.1	+	2	304	c.171G>A	c.(169-171)caG>caA	p.Q57Q	INTS8_ENST00000447247.1_Silent_p.Q57Q	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	57					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTTTGGAACAGGCTTCCAAAC	0.328													69	60					0	0	0	0	A	95837161	G	A	95837161	2	1	479	1	0	0	0	0	0	0	0	1	7837	991	35	4		4	INTS8	8	95837161	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5040817	95837161	50526861	228	92123											
SLC30A8	169026	broad.mit.edu	37	chr8	118170065	118170065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatcgtttccagctgcgCagtggcggccaacattgtgt	7	11	12	11	3	1	0	1	0	0	0	3	1	2	0	2	2	3	3	2	2	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:118170065C>T	ENST00000427715.2	+	7	841	c.407C>T	c.(406-408)gCa>gTa	p.A136V	SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185V	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCAGCTGCGCAGTGGCGGCC	0.527													9	171					0	0	0	0	T	118170065	C	T	118170065	3	4	479	1	0	0	0	0	1	0	0	0	14649	710	25	4	568	4	SLC30A8	8	118170065	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	22332904	118170065	28193957	229	92124											
MTBP	27085	broad.mit.edu	37	chr8	121509782	121509782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaaattaaaaccttcAatatattaaatggtaagttt	18	14	5	4	0	1	0	1	0	0	0	1	1	1	1	1	2	1	2	1	2	10	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:121509782A>G	ENST00000305949.1	+	14	1642	c.1597A>G	c.(1597-1599)Aat>Gat	p.N533D		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	533	Interaction with MDM2 (By similarity).				cell cycle arrest					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)			TAAAACCTTCAATATATTAAA	0.259													9	82					0	0	0	0	G	121509782	A	G	121509782	3	3	479	1	0	0	0	0	1	0	0	0	9982	130	5	5	1651	5	MTBP	8	121509782	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	3339717	121509782	24854240	230	92125											
COL22A1	169044	broad.mit.edu	37	chr8	139833404	139833404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacactgtcgtagaggCgcttgccaatcacagtcttg	8	10	12	11	2	2	1	1	0	1	1	3	1	2	1	1	2	1	3	1	2	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:139833404C>T	ENST00000303045.6	-	7	1666	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R407H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	407	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCGTAGAGGCGCTTGCCAAT	0.592										HNSCC(7;0.00092)			44	29					0	0	0	0	T	139833404	C	T	139833404	3	4	479	1	0	0	0	0	1	0	0	0	3711	768	27	1	3896	1	COL22A1	8	139833404	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	18323622	139833404	6530618	231	92126											
SCRIB	23513	broad.mit.edu	37	chr8	144891171	144891171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccccgggcagcagtgCgtcctctgcgaaatgcaccg	7	7	12	15	4	2	0	1	0	1	0	4	1	4	0	4	1	4	3	4	1	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:144891171C>T	ENST00000356994.2	-	15	1729	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	SCRIB_ENST00000377533.3_Missense_Mutation_p.A494T|SCRIB_ENST00000320476.3_Missense_Mutation_p.A575T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	575	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGCAGTGCGTCCTCTGCG	0.652													38	70					0	0	0	0	T	144891171	C	T	144891171	3	4	479	1	0	0	0	0	1	0	0	0	14024	768	27	1	3336	1	SCRIB	8	144891171	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5057767	144891171	1472851	232	92127											
PLEC	5339	broad.mit.edu	37	chr8	144991437	144991437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccacgccgtccgaggaGgagatggtgatctcctccca	8	8	12	13	3	1	3	0	2	1	1	4	6	3	4	5	3	0	0	5	3	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:144991437G>A	ENST00000322810.4	-	32	13132	c.12963C>T	c.(12961-12963)tcC>tcT	p.S4321S	PLEC_ENST00000356346.3_Silent_p.S4170S|PLEC_ENST00000357649.2_Silent_p.S4188S|PLEC_ENST00000345136.3_Silent_p.S4184S|PLEC_ENST00000398774.2_Silent_p.S4152S|PLEC_ENST00000527096.1_Silent_p.S4207S|PLEC_ENST00000354589.3_Silent_p.S4184S|PLEC_ENST00000436759.2_Silent_p.S4211S|PLEC_ENST00000354958.2_Silent_p.S4162S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4321	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTCCGAGGAGGAGATGGTGA	0.612													10	126					0	0	0	0	A	144991437	G	A	144991437	2	1	479	1	0	0	0	0	0	0	0	1	12124	987	35	4		4	PLEC	8	144991437	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	100266	144991437	1372585	233	92128											
PLEC	5339	broad.mit.edu	37	chr8	145008885	145008885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttaaacttcaggaacTgagaccacaggatctgccag	12	9	8	12	0	3	1	1	1	2	1	4	4	3	3	3	2	3	0	3	2	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:145008885T>C	ENST00000322810.4	-	10	1539	c.1370A>G	c.(1369-1371)cAg>cGg	p.Q457R	PLEC_ENST00000356346.3_Missense_Mutation_p.Q306R|PLEC_ENST00000357649.2_Missense_Mutation_p.Q324R|PLEC_ENST00000345136.3_Missense_Mutation_p.Q320R|PLEC_ENST00000398774.2_Missense_Mutation_p.Q288R|PLEC_ENST00000527096.1_Missense_Mutation_p.Q343R|PLEC_ENST00000354589.3_Missense_Mutation_p.Q320R|PLEC_ENST00000436759.2_Missense_Mutation_p.Q347R|PLEC_ENST00000354958.2_Missense_Mutation_p.Q298R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	457	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCAGGAACTGAGACCACAG	0.632													24	125					0	0	0	0	C	145008885	T	C	145008885	3	2	479	1	0	0	0	0	1	0	0	0	12124	1580	55	5	12776	5	PLEC	8	145008885	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	17448	145008885	1355137	234	92129											
PARP10	84875	broad.mit.edu	37	chr8	145060033	145060033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgctggggcgtggtgccagGgggcagtccttggagcagca	5	6	20	10	2	0	0	0	0	0	0	1	1	1	1	2	6	3	4	2	6	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:145060033G>A	ENST00000313028.7	-	3	386	c.292C>T	c.(292-294)Cct>Tct	p.P98S	PARP10_ENST00000524918.1_Missense_Mutation_p.P98S|PARP10_ENST00000525773.1_Missense_Mutation_p.P110S|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	98						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGTGCCAGGGGGCAGTCCT	0.697													14	44					0	0	0	0	A	145060033	G	A	145060033	3	1	479	1	0	0	0	0	1	0	0	0	11526	1232	43	4	2821	4	PARP10	8	145060033	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	51148	145060033	1303989	235	92130											
RPL8	6132	broad.mit.edu	37	chr8	146015766	146015766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccacaccccgtactcgtgGccagcagttcctctttgcct	5	10	9	17	2	1	0	0	0	1	0	3	0	2	0	6	2	3	3	6	2	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:146015766G>A	ENST00000262584.3	-	5	821	c.589C>T	c.(589-591)Cca>Tca	p.P197S	RPL8_ENST00000394920.2_Missense_Mutation_p.P197S|RPL8_ENST00000528957.1_Missense_Mutation_p.P197S|RPL8_ENST00000527914.1_Missense_Mutation_p.P88S|RPL8_ENST00000529163.1_5'UTR	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	197					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CGTACTCGTGGCCAGCAGTTC	0.537													8	120					0	0	0	0	A	146015766	G	A	146015766	3	1	479	1	0	0	0	0	1	0	0	0	13687	1203	42	4	192	4	RPL8	8	146015766	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	955733	146015766	348256	236	92131											
CBWD1	55871	broad.mit.edu	37	chr9	164038	164038	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatagaagccactgcacCtgaaaatatataatattcat	19	10	4	8	0	1	2	1	1	0	1	1	2	1	2	2	0	3	1	2	0	9	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284													4	168					0	0	0	0	G	164038	C	G	164038	5	3	479	1	0	0	0	0	0	0	1	0	2737	695	24	4	801	4	CBWD1	9	164038	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08		164038	141049393	237	92132											
SH3GL2	6456	broad.mit.edu	37	chr9	17793391	17793392	+	Frame_Shift_Ins	INS	-	-	A																															caggcttcatctcagcctagINSaagggaatatcaacctaaac																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:17793391_17793392insA	ENST00000380607.4	+	8	875_876	c.755_756insA	c.(754-756)aagfs	p.K252fs	SH3GL2_ENST00000537391.1_Frame_Shift_Ins_p.K205fs	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	252					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCTCAGCCTAGAAGGGAATATC	0.426													26	32	---	---	---	---					A	17793392	-	A	17793391	7	5	479	1	0	1	1	0	0	0	0	0	14339	942	33	0	785	0	SH3GL2	9	17793391	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	17629353	17793391	123420040	238	92133											
ELAVL2	1993	broad.mit.edu	37	chr9	23762147	23762147	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctgtgttcccagagtcaActggtgacgaacagttgttg	8	13	11	9	1	2	2	1	1	1	1	3	3	3	2	1	1	2	3	1	1	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:23762147A>G	ENST00000397312.2	-	2	360	c.86T>C	c.(85-87)gTt>gCt	p.V29A	ELAVL2_ENST00000223951.6_Missense_Mutation_p.V29A|ELAVL2_ENST00000380110.4_Missense_Mutation_p.V58A|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V29A|ELAVL2_ENST00000544538.1_Missense_Mutation_p.V29A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	29					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCCAGAGTCAACTGGTGACGA	0.448													22	167					0	0	0	0	G	23762147	A	G	23762147	3	3	479	1	0	0	0	0	1	0	0	0	5088	43	2	5	1017	5	ELAVL2	9	23762147	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	5968756	23762147	117451284	239	92134											
DCTN3	11258	broad.mit.edu	37	chr9	34618739	34618739	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaagccacctgcacctTgaccaggccgtcagccacct	9	5	7	20	1	1	1	1	1	0	0	1	1	1	1	9	1	3	1	9	1	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:34618739T>C	ENST00000447983.2	-	2	168	c.115A>G	c.(115-117)Aag>Gag	p.K39E	DCTN3_ENST00000477738.2_Missense_Mutation_p.K39E|DCTN3_ENST00000378916.4_Missense_Mutation_p.K39E|DCTN3_ENST00000378913.2_Missense_Mutation_p.K39E|DCTN3_ENST00000259632.7_Missense_Mutation_p.K39E|DCTN3_ENST00000341694.2_Missense_Mutation_p.K39E			O75935	DCTN3_HUMAN	dynactin 3 (p22)	39					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		ACCTGCACCTTGACCAGGCCG	0.502													16	37					0	0	0	0	C	34618739	T	C	34618739	3	2	479	1	0	0	0	0	1	0	0	0	4340	1821	63	5	566	5	DCTN3	9	34618739	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	10856592	34618739	106594692	240	92135											
TPM2	7169	broad.mit.edu	37	chr9	35689769	35689769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcgcggtcgatggcgttctCcttgtccagcttcagcatct	4	12	12	13	4	3	0	1	0	2	0	6	1	4	0	2	3	2	3	2	3	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:35689769C>G	ENST00000378292.3	-	1	1248	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	TPM2_ENST00000378300.5_Missense_Mutation_p.E16Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E16Q|TPM2_ENST00000360958.2_Missense_Mutation_p.E16Q	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	16					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCGTTCTCCTTGTCCAGC	0.672													137	52					0	0	0	0	G	35689769	C	G	35689769	3	3	479	1	0	0	0	0	1	0	0	0	16501	864	30	2	1011	2	TPM2	9	35689769	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1071030	35689769	105523662	241	92136											
TLN1	7094	broad.mit.edu	37	chr9	35712949	35712949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtatcaagtacaatggcCtgcactgcaggatctgacgt	10	9	11	11	2	2	1	1	1	1	0	2	2	2	2	2	2	3	4	2	2	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:35712949C>A	ENST00000314888.9	-	27	3797	c.3444G>T	c.(3442-3444)caG>caT	p.Q1148H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q1148H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1148					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTACAATGGCCTGCACTGCAG	0.617													3	10					0.004672	0.00481562	1	0	A	35712949	C	A	35712949	3	1	479	1	0	0	0	0	1	0	0	0	16041	680	24	4	4305	4	TLN1	9	35712949	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	23180	35712949	105500482	242	92137											
GDA	9615	broad.mit.edu	37	chr9	74842873	74842873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacagtgatggcacaCggctgctacctctctgcaga	9	8	10	14	1	1	3	0	1	1	2	3	3	2	3	2	2	3	4	2	2	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:74842873C>T	ENST00000358399.3	+	9	930	c.837C>T	c.(835-837)caC>caT	p.H279H	GDA_ENST00000545168.1_Silent_p.H205H|GDA_ENST00000376989.3_Silent_p.H218H|GDA_ENST00000238018.4_Silent_p.H279H|GDA_ENST00000376986.1_Silent_p.H201H|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	279					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGATGGCACACGGCTGCTACC	0.458													13	21					0	0	0	0	T	74842873	C	T	74842873	2	4	479	1	0	0	0	0	0	0	0	1	6356	535	19	1		1	GDA	9	74842873	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	39129924	74842873	66370558	243	92138											
SHC3	53358	broad.mit.edu	37	chr9	91686146	91686146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggcgaaggagatggaccGcatgtggtgattcgctatga	11	8	16	6	3	0	4	0	2	0	2	1	7	0	5	1	4	0	2	1	4	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:91686146G>A	ENST00000375835.4	-	5	1057	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	251	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GAGATGGACCGCATGTGGTGA	0.507													29	8					0	0	0	0	A	91686146	G	A	91686146	3	1	479	1	0	0	0	0	1	0	0	0	14360	1086	38	1	1065	1	SHC3	9	91686146	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	16843273	91686146	49527285	244	92139											
SUSD3	203328	broad.mit.edu	37	chr9	95840266	95840266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagagcaagcggcggcGctccaacaggtacggtggcc	11	3	16	11	4	0	2	0	0	0	2	1	3	1	2	2	5	4	3	2	5	5	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:95840266G>A	ENST00000375472.3	+	3	452	c.416G>A	c.(415-417)cGc>cAc	p.R139H	SUSD3_ENST00000375469.1_Missense_Mutation_p.R126H	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	139						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGCGGCGGCGCTCCAACAGG	0.602													4	70					0	0	0	0	A	95840266	G	A	95840266	3	1	479	1	0	0	0	0	1	0	0	0	15499	1087	38	1	426	1	SUSD3	9	95840266	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4154120	95840266	45373165	245	92140											
TRUB2	26995	broad.mit.edu	37	chr9	131076091	131076091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttccggttctcaccataGgttgtcttctctaccagcct	6	14	6	15	1	3	0	1	0	3	0	6	0	4	0	4	2	2	2	4	2	2	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:131076091G>T	ENST00000372890.4	-	5	789	c.456C>A	c.(454-456)acC>acA	p.T152T	TRUB2_ENST00000546104.1_Silent_p.T96T|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	152					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TCTCACCATAGGTTGTCTTCT	0.587													35	63					1.06647e-15	1.26908e-15	1	0	T	131076091	G	T	131076091	2	4	479	1	0	0	0	0	0	0	0	1	16698	987	35	4		4	TRUB2	9	131076091	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	35235825	131076091	10137340	246	92141											
RAPGEF1	2889	broad.mit.edu	37	chr9	134504527	134504527	+	Frame_Shift_Del	DEL	G	G	-																															atgccaggcagaggaggcttGgggggcgcgacctcttcatc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:134504527delG	ENST00000372195.1	-	7	1098	c.855delC	c.(853-855)ccfs	p.P285fs	RAPGEF1_ENST00000372189.3_Frame_Shift_Del_p.P268fs|RAPGEF1_ENST00000372190.3_Frame_Shift_Del_p.P286fs|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	268					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAGGAGGCTTGGGGGGCGCGA	0.537													18	45	---	---	---	---					-	134504527	G	-	134504527	7	5	479	1	0	1	0	1	0	0	0	0	13125	1335	47	0	2501	0	RAPGEF1	9	134504527	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	3428436	134504527	6708904	247	92142											
SETX	23064	broad.mit.edu	37	chr9	135210036	135210036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaagtatcgattgcataAaatcattttgtttgtctgag	11	17	9	4	1	2	2	1	2	1	0	3	3	2	2	0	0	1	3	0	0	4	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:135210036A>T	ENST00000372169.2	-	7	979	c.797T>A	c.(796-798)tTt>tAt	p.F266Y	SETX_ENST00000393220.1_Missense_Mutation_p.F266Y|SETX_ENST00000224140.5_Missense_Mutation_p.F266Y			Q7Z333	SETX_HUMAN	senataxin	266					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CGATTGCATAAAATCATTTTG	0.363													22	42					0	0	0	0	T	135210036	A	T	135210036	3	4	479	1	0	0	0	0	1	0	0	0	14228	14	1	5	7316	5	SETX	9	135210036	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	705509	135210036	6003395	248	92143											
CEL	1056	broad.mit.edu	37	chr9	135946437	135946437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctacactacggaaaacagCggctacctggagatcaccaa	14	5	8	14	2	1	1	1	0	0	1	1	3	1	2	3	3	5	1	3	3	6	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:135946437C>T	ENST00000372080.4	+	11	1573	c.1557C>T	c.(1555-1557)agC>agT	p.S519S	CEL_ENST00000351304.7_Silent_p.S450S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	516					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGAAAACAGCGGCTACCTGG	0.607													9	21					0	0	0	0	T	135946437	C	T	135946437	2	4	479	1	0	0	0	0	0	0	0	1	3238	767	27	1		1	CEL	9	135946437	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	736401	135946437	5266994	249	92144											
OLFM1	10439	broad.mit.edu	37	chr9	138011607	138011607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaacaacatgtaccactaCgcctggggtggccactcgga	11	7	10	13	2	0	0	0	0	0	0	1	1	0	1	3	4	5	1	3	4	5	3	rs138868145	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:138011607C>T	ENST00000252854.4	+	6	1174	c.987C>T	c.(985-987)taC>taT	p.Y329Y	OLFM1_ENST00000371793.3_Silent_p.Y347Y|OLFM1_ENST00000371796.3_Silent_p.Y320Y	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	347	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGTACCACTACGCCTGGGGTG	0.572													34	6					0	0	0	0	T	138011607	C	T	138011607	2	4	479	1	0	0	0	0	0	0	0	1	10923	547	19	1		1	OLFM1	9	138011607	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2065170	138011607	3201824	250	92145											
GRIN1	2902	broad.mit.edu	37	chr9	140053103	140053103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgacaggaagatcatctggCcaggcggagagacagagaag	15	4	15	7	1	2	4	1	1	1	3	2	8	2	6	1	4	0	0	1	4	2	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140053103C>T	ENST00000371561.3	+	8	2241	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	GRIN1_ENST00000371555.4_Missense_Mutation_p.P403S|GRIN1_ENST00000371546.4_Missense_Mutation_p.P403S|GRIN1_ENST00000371559.4_Missense_Mutation_p.P382S|GRIN1_ENST00000371560.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371550.4_Missense_Mutation_p.P382S|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Missense_Mutation_p.P382S|GRIN1_ENST00000371553.3_Missense_Mutation_p.P403S|GRIN1_ENST00000350902.5_Missense_Mutation_p.P382S	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	382					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GATCATCTGGCCAGGCGGAGA	0.637													26	57					0	0	0	0	T	140053103	C	T	140053103	3	4	479	1	0	0	0	0	1	0	0	0	6828	739	26	4	1241	4	GRIN1	9	140053103	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2041496	140053103	1160328	251	92146											
GRIN1	2902	broad.mit.edu	37	chr9	140057651	140057651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatctgggactcggcGgtgctggagttcgaggcctc	4	10	15	12	3	2	0	1	0	1	0	5	3	2	2	2	5	1	2	2	5	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140057651G>A	ENST00000371561.3	+	16	3299	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A	GRIN1_ENST00000371555.4_Silent_p.A755A|GRIN1_ENST00000371546.4_Silent_p.A755A|GRIN1_ENST00000371559.4_Silent_p.A734A|GRIN1_ENST00000371560.3_Silent_p.A755A|GRIN1_ENST00000371550.4_Silent_p.A734A|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.A734A|GRIN1_ENST00000371553.3_Silent_p.A755A|GRIN1_ENST00000350902.5_Silent_p.A734A	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	734					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGGACTCGGCGGTGCTGGAGT	0.667													7	26					0	0	0	0	A	140057651	G	A	140057651	2	1	479	1	0	0	0	0	0	0	0	1	6828	1103	39	1		1	GRIN1	9	140057651	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4548	140057651	1155780	252	92147											
PNPLA7	375775	broad.mit.edu	37	chr9	140396160	140396160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcagaagcgccacccggCcatccaacagagatgagtcc	11	4	11	15	3	0	3	0	1	0	2	2	4	2	3	5	1	3	1	5	1	2	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140396160C>T	ENST00000406427.1	-	15	1829	c.1493G>A	c.(1492-1494)gGc>gAc	p.G498D	PNPLA7_ENST00000371457.1_Missense_Mutation_p.G79D|PNPLA7_ENST00000277531.4_Missense_Mutation_p.G473D	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	473					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGCCACCCGGCCATCCAACAG	0.607													7	22					0	0	0	0	T	140396160	C	T	140396160	3	4	479	1	0	0	0	0	1	0	0	0	12242	739	26	4	2619	4	PNPLA7	9	140396160	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	338509	140396160	817271	253	92148											
MCM10	55388	broad.mit.edu	37	chr10	13214409	13214409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgcaagagcaaatgaaggCcttacaagagcagctaaaag	17	7	10	7	0	0	3	0	1	0	2	0	3	0	3	1	1	5	4	1	1	7	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:13214409C>T	ENST00000378694.1	+	3	458	c.383C>T	c.(382-384)gCc>gTc	p.A128V	MCM10_ENST00000484800.2_Missense_Mutation_p.A128V|MCM10_ENST00000378714.3_Missense_Mutation_p.A128V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	128					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAAATGAAGGCCTTACAAGAG	0.403													8	327					0	0	0	0	T	13214409	C	T	13214409	3	4	479	1	0	0	0	0	1	0	0	0	9454	739	26	4	393	4	MCM10	10	13214409	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08		13214409	122320338	254	92149											
NEBL	10529	broad.mit.edu	37	chr10	21141501	21141501	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaggacggcattgcctttAtggtgcagatgttccacagc	8	11	13	9	1	0	1	0	0	0	1	1	3	1	3	2	4	3	3	2	4	1	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:21141501A>G	ENST00000377122.4	-	10	1377	c.981T>C	c.(979-981)caT>caC	p.H327H	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	327					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATTGCCTTTATGGTGCAGAT	0.483													43	86					0	0	0	0	G	21141501	A	G	21141501	2	3	479	1	0	0	0	0	0	0	0	1	10373	446	16	5		5	NEBL	10	21141501	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	7927092	21141501	114393246	255	92150											
MYO3A	53904	broad.mit.edu	37	chr10	26457731	26457731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattcaagcttgtgtcagaGcattcttgtgttcaagaaga	11	14	10	6	0	4	4	3	1	1	3	4	4	4	4	0	0	2	3	0	0	3	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:26457731G>T	ENST00000265944.5	+	28	3368	c.3202G>T	c.(3202-3204)Gca>Tca	p.A1068S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1068	IQ 1.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGTGTCAGAGCATTCTTGTG	0.338													33	118					4.3181e-19	5.22573e-19	1	0	T	26457731	G	T	26457731	3	4	479	1	0	0	0	0	1	0	0	0	10146	971	34	4	3304	4	MYO3A	10	26457731	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5316230	26457731	109077016	256	92151											
ITGB1	3688	broad.mit.edu	37	chr10	33208969	33208969	+	Frame_Shift_Del	DEL	T	T	-																															ttttaaagctgtcagaatccTtttttggacacttatttgaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:33208969delT	ENST00000396033.2	-	11	1448	c.1313delA	c.(1312-1314)agfs	p.K438fs	ITGB1_ENST00000423113.1_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000302278.3_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000374956.4_Frame_Shift_Del_p.K438fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	438					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GTCAGAATCCTTTTTTGGACA	0.338													81	257	---	---	---	---					-	33208969	T	-	33208969	7	5	479	1	0	1	0	1	0	0	0	0	7943	1609	56	0	1345	0	ITGB1	10	33208969	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	6751238	33208969	102325778	257	92152											
ZNF33A	7581	broad.mit.edu	37	chr10	38306270	38306270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgcaacaaggagaagAgccatggaaacaggaggaag	17	2	15	7	0	0	2	0	0	0	2	0	6	0	5	1	5	4	2	1	5	5	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:38306270A>G	ENST00000374618.3	+	4	384	c.206A>G	c.(205-207)gAg>gGg	p.E69G	ZNF33A_ENST00000432900.2_Missense_Mutation_p.E76G|ZNF33A_ENST00000458705.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000469037.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E69G|ZNF33A_ENST00000476504.1_3'UTR	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	69	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CAAGGAGAAGAGCCATGGAAA	0.433													42	264					0	0	0	0	G	38306270	A	G	38306270	3	3	479	1	0	0	0	0	1	0	0	0	17949	304	11	5	216	5	ZNF33A	10	38306270	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	5097301	38306270	97228477	258	92153											
ERCC6	2074	broad.mit.edu	37	chr10	50732641	50732641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttcaaaagacagttttgCttgatctgccaaatactttt	11	16	5	9	0	2	2	1	1	1	1	2	2	2	2	2	0	3	2	2	0	4	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:50732641C>T	ENST00000355832.5	-	5	913	c.835G>A	c.(835-837)Gca>Aca	p.A279T	PGBD3_ENST00000603152.1_Missense_Mutation_p.A279T|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A279T|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A279T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	279					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACAGTTTTGCTTGATCTGCC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)					27	99					0	0	0	0	T	50732641	C	T	50732641	3	4	479	1	0	0	0	0	1	0	0	0	5255	797	28	4	3714	4	ERCC6	10	50732641	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	12426371	50732641	84802106	259	92154											
PCDH15	65217	broad.mit.edu	37	chr10	55566748	55566749	+	Frame_Shift_Del	DEL	AT	AT	-																															ccacagaaccattctgtgcaAtatatatattgccgttgata																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:55566748_55566749delAT	ENST00000373965.2	-	36	5039_5040	c.4645_4646delAT	c.(4645-4647)tfs	p.I1549fs	PCDH15_ENST00000414778.1_Frame_Shift_Del_p.I1546fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCTGTGCAATATATATATTG	0.47										HNSCC(58;0.16)			38	21	---	---	---	---					-	55566749	AT	-	55566748	7	5	479	1	0	1	0	1	0	0	0	0	11582	101	4	0	412	0	PCDH15	10	55566748	Frame_Shift_Del	DEL	AT	TCGA-QK-A6VB-01A-12D-A34J-08	4834107	55566748	79967999	260	92155											
PCDH15	65217	broad.mit.edu	37	chr10	55780162	55780162	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagacacatttgctccaagGtcgacatctttggcctgtaa	11	12	8	10	1	1	1	0	0	1	1	3	2	2	1	2	2	1	2	2	2	3	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:55780162G>A	ENST00000373965.2	-	21	2956	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D	PCDH15_ENST00000395438.1_Silent_p.D847D|PCDH15_ENST00000395433.1_Silent_p.D825D|PCDH15_ENST00000320301.6_Silent_p.D847D|PCDH15_ENST00000414778.1_Silent_p.D852D|PCDH15_ENST00000395430.1_Silent_p.D847D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.D458D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.D854D|PCDH15_ENST00000437009.1_Silent_p.D776D|PCDH15_ENST00000361849.3_Silent_p.D847D|PCDH15_ENST00000373955.1_Silent_p.D847D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.D810D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	847	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGCTCCAAGGTCGACATCTT	0.398										HNSCC(58;0.16)			87	31					0	0	0	0	A	55780162	G	A	55780162	2	1	479	1	0	0	0	0	0	0	0	1	11582	1252	44	4		4	PCDH15	10	55780162	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	213414	55780162	79754585	261	92156											
RTKN2	219790	broad.mit.edu	37	chr10	64000924	64000924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttattgctgaagtgatcaGagtctttccacattagtggt	9	16	9	7	0	2	3	1	2	1	1	3	3	3	3	1	1	1	1	1	1	3	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:64000924G>A	ENST00000373789.3	-	4	443	c.347C>T	c.(346-348)tCt>tTt	p.S116F	RTKN2_ENST00000395260.3_Missense_Mutation_p.S116F|RTKN2_ENST00000395265.1_Missense_Mutation_p.S116F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	116					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GAAGTGATCAGAGTCTTTCCA	0.289													4	31					0	0	0	0	A	64000924	G	A	64000924	3	1	479	1	0	0	0	0	1	0	0	0	13808	942	33	2	1518	2	RTKN2	10	64000924	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	8220762	64000924	71533823	262	92157											
MYPN	84665	broad.mit.edu	37	chr10	69966598	69966598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatcagacgctggatggtAcacgttgtcagccaagaatg	13	8	12	8	2	2	2	2	0	0	2	2	4	2	3	1	2	2	3	1	2	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:69966598A>G	ENST00000358913.5	+	19	4219	c.3731A>G	c.(3730-3732)tAc>tGc	p.Y1244C	MYPN_ENST00000540630.1_Missense_Mutation_p.Y1244C|MYPN_ENST00000354393.2_Missense_Mutation_p.Y969C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1244	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCTGGATGGTACACGTTGTCA	0.468													79	32					0	0	0	0	G	69966598	A	G	69966598	3	3	479	1	0	0	0	0	1	0	0	0	10168	391	14	5	3801	5	MYPN	10	69966598	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	5965674	69966598	65568149	263	92158											
USP54	159195	broad.mit.edu	37	chr10	75299343	75299344	+	Frame_Shift_Ins	INS	-	-	A																															cccggtcatccgtcactctgINSaaaaacagctgaggggaaag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:75299343_75299344insA	ENST00000339859.4	-	9	933_934	c.833_834insT	c.(832-834)tagfs	p.*278fs	USP54_ENST00000428547.1_Frame_Shift_Ins_p.*128fs|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Frame_Shift_Ins_p.*278fs|USP54_ENST00000319786.7_Frame_Shift_Ins_p.*278fs|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	278					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCGTCACTCTGAAAAACAGCTG	0.401													30	34	---	---	---	---					A	75299344	-	A	75299343	7	5	479	1	0	1	1	0	0	0	0	0	17181	1281	45	0	4280	0	USP54	10	75299343	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	5332745	75299343	60235404	264	92159											
SEC24C	9632	broad.mit.edu	37	chr10	75526247	75526247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacatgtttgtgccaCtgctggatggcttcctggtc	4	14	13	10	0	0	1	0	1	0	0	2	2	1	2	2	4	2	4	2	4	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:75526247C>T	ENST00000339365.2	+	13	1909	c.1747C>T	c.(1747-1749)Ctg>Ttg	p.L583L	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.L583L|SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000411652.2_Silent_p.L464L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	583					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTTTGTGCCACTGCTGGATGG	0.507													6	38					0	0	0	0	T	75526247	C	T	75526247	2	4	479	1	0	0	0	0	0	0	0	1	14083	564	20	4		4	SEC24C	10	75526247	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	226904	75526247	60008500	265	92160											
ZCCHC24	219654	broad.mit.edu	37	chr10	81192499	81192499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggcgcccttgtacaCactgttgctcagcgcctgtg	5	10	14	12	2	1	1	1	1	0	0	1	1	1	1	2	2	3	3	2	2	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:81192499C>T	ENST00000372336.3	-	2	448	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.C28Y	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	88							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CCCTTGTACACACTGTTGCTC	0.582													19	5					0	0	0	0	T	81192499	C	T	81192499	3	4	479	1	0	0	0	0	1	0	0	0	17683	478	17	4	475	4	ZCCHC24	10	81192499	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5666252	81192499	54342248	266	92161											
BMPR1A	657	broad.mit.edu	37	chr10	88649931	88649931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccttgccttttttaaaGtgctattgctcagggcactg	8	15	9	9	0	1	0	1	0	0	0	1	1	1	0	2	1	4	3	2	1	4	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:88649931G>A	ENST00000372037.2	+	4	717	c.180G>A	c.(178-180)aaG>aaA	p.K60K		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	60					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CTTTTTTAAAGTGCTATTGCT	0.403			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				85	25					0	0	0	0	A	88649931	G	A	88649931	2	1	479	1	0	0	0	0	0	0	0	1	1474	1020	36	4		4	BMPR1A	10	88649931	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7457432	88649931	46884816	267	92162											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	17	11	3	10	1	1	1	0	0	1	1	2	2	1	1	3	0	3	0	3	0	7	6	rs121909231		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			69	21					0	0	0	0	T	89720852	C	T	89720852	4	4	479	1	0	0	0	0	0	1	0	0	12817	644	23	1	1033	1	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1070921	89720852	45813895	268	92163											
SORBS1	10580	broad.mit.edu	37	chr10	97141462	97141462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcttttcgttggtcagaaCggaagacttgccaggctgat	9	12	11	9	2	2	3	1	1	1	2	3	4	2	4	1	3	2	2	1	3	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:97141462C>T	ENST00000371247.2	-	18	1822	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I	SORBS1_ENST00000353505.5_Missense_Mutation_p.V430I|SORBS1_ENST00000393949.1_Missense_Mutation_p.V515I|SORBS1_ENST00000371245.3_Missense_Mutation_p.V430I|SORBS1_ENST00000371249.2_Missense_Mutation_p.V467I|SORBS1_ENST00000354106.3_Missense_Mutation_p.V515I|SORBS1_ENST00000347291.4_Missense_Mutation_p.V413I|SORBS1_ENST00000371241.1_Missense_Mutation_p.V335I|SORBS1_ENST00000277982.5_Missense_Mutation_p.V567I|SORBS1_ENST00000371246.2_Missense_Mutation_p.V567I|SORBS1_ENST00000607232.1_Missense_Mutation_p.V334I|SORBS1_ENST00000371227.4_Missense_Mutation_p.V499I|SORBS1_ENST00000361941.3_Missense_Mutation_p.V545I|SORBS1_ENST00000306402.6_Missense_Mutation_p.V376I|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Missense_Mutation_p.V344I			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	545					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTGGTCAGAACGGAAGACTTG	0.413													37	6					0	0	0	0	T	97141462	C	T	97141462	3	4	479	1	0	0	0	0	1	0	0	0	15015	536	19	1	2373	1	SORBS1	10	97141462	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	7420610	97141462	38393285	269	92164											
PSD	5662	broad.mit.edu	37	chr10	104174659	104174661	+	In_Frame_Del	DEL	TCT	TCT	-																															caaacacctcgtcgtccacaTcttcttccccacctgcctca																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:104174659_104174661delTCT	ENST00000020673.5	-	4	1609_1611	c.1083_1085delAGA	c.(1081-1086)gat>ga	p.ED361del	PSD_ENST00000406432.1_In_Frame_Del_p.ED361del	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	361					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GTCGTCCACATCTTCTTCCCCAC	0.66													43	12	---	---	---	---					-	104174661	TCT	-	104174659	7	5	479	1	0	1	0	1	0	0	0	0	12725	1435	50	0	2045	0	PSD	10	104174659	In_Frame_Del	DEL	TCT	TCGA-QK-A6VB-01A-12D-A34J-08	7033197	104174659	31360088	270	92165											
DCLRE1A	9937	broad.mit.edu	37	chr10	115609585	115609585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctcatcaggttttgcttTagttgcctgatgaacagaag	9	14	11	7	0	2	3	2	2	0	1	2	3	2	3	1	2	3	4	1	2	3	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:115609585T>C	ENST00000361384.2	-	2	2196	c.1279A>G	c.(1279-1281)Aaa>Gaa	p.K427E	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K427E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	427	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGTTTTGCTTTAGTTGCCTGA	0.408								Other identified genes with known or suspected DNA repair function					21	29					0	0	0	0	C	115609585	T	C	115609585	3	2	479	1	0	0	0	0	1	0	0	0	4326	1763	61	5	1875	5	DCLRE1A	10	115609585	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	11434926	115609585	19925162	271	92166											
PRLHR	2834	broad.mit.edu	37	chr10	120354500	120354500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagccggcgcacccgcGcgatcaccagcaccagcagg	8	3	13	17	5	1	0	1	0	0	0	1	1	1	0	4	2	4	4	4	2	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:120354500G>A	ENST00000239032.2	-	2	395	c.257C>T	c.(256-258)gCg>gTg	p.A86V	PRLHR_ENST00000369169.1_Missense_Mutation_p.A86V	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	86					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCGCACCCGCGCGATCACCAG	0.662													32	41					0	0	0	0	A	120354500	G	A	120354500	3	1	479	1	0	0	0	0	1	0	0	0	12610	1087	38	1	859	1	PRLHR	10	120354500	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4744915	120354500	15180247	272	92167											
INPP5F	22876	broad.mit.edu	37	chr10	121556338	121556339	+	Frame_Shift_Ins	INS	-	-	C																															tgagaaaagcagcccagagaINSccccccctcaggagtccacc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:121556338_121556339insC	ENST00000361976.2	+	7	947_948	c.781_782insC	c.(781-783)cccfs	p.P261fs	INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.P261fs	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	261	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCAG	0.48													10	58	---	---	---	---					C	121556339	-	C	121556338	7	5	479	1	0	1	1	0	0	0	0	0	7811	275	10	0	807	0	INPP5F	10	121556338	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1201838	121556338	13978409	273	92168											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122263361	122263361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggatccgttccagagaGtcatccagccagaagagatc	11	10	10	10	1	1	3	1	0	0	3	5	6	4	4	4	1	1	1	4	1	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:122263361G>C	ENST00000398250.1	+	2	440	c.88G>C	c.(88-90)Gtc>Ctc	p.V30L	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.V20L|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.V30L	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	30					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTTCCAGAGAGTCATCCAGCC	0.423													55	11					0	0	0	0	C	122263361	G	C	122263361	3	2	479	1	0	0	0	0	1	0	0	0	12364	1029	36	4	94	4	PPAPDC1A	10	122263361	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	707023	122263361	13271386	274	92169											
TALDO1	6888	broad.mit.edu	37	chr11	763813	763813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctacaaaaccattgtcatggGcgcctccttccgcaacacgg	10	8	8	15	3	1	0	1	0	0	0	3	0	3	0	4	2	3	1	4	2	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:763813G>A	ENST00000319006.3	+	6	857	c.704G>A	c.(703-705)gGc>gAc	p.G235D	TALDO1_ENST00000528097.1_Missense_Mutation_p.G235D			P37837	TALDO_HUMAN	transaldolase 1	235					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		ATTGTCATGGGCGCCTCCTTC	0.527													7	381					0	0	0	0	A	763813	G	A	763813	3	1	479	1	0	0	0	0	1	0	0	0	15634	1203	42	4	726	4	TALDO1	11	763813	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08		763813	134242703	275	92170											
MUC5B	727897	broad.mit.edu	37	chr11	1279559	1279559	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttagctccctttccttccaGgacctcagctgtgttcgtac	5	14	7	15	1	1	0	1	0	0	0	5	1	4	1	4	1	3	4	4	1	2	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:1279559G>A	ENST00000447027.1	+	43	16622		c.e43-1		MUC5B_ENST00000529681.1_Splice_Site			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTTCCTTCCAGGACCTCAGCT	0.637													6	45					0	0	0	0	A	1279559	G	A	1279559	5	1	479	1	0	0	0	0	0	0	1	0	10049	1014	35	4	16734	4	MUC5B	11	1279559	Splice_Site	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	515746	1279559	133726957	276	92171											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605893	1605893	+	Frame_Shift_Del	DEL	C	C	-																															ccccacagccggagccacaaCcccccttggatcccccacaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:1605893delC	ENST00000382171.2	-	1	620	c.587delG	c.(586-588)gtfs	p.G196fs	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	196	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCACAACCCCCCTTGGA	0.672													15	162	---	---	---	---					-	1605893	C	-	1605893	7	5	479	1	0	1	0	1	0	0	0	0	8611	507	18	0	253	0	KRTAP5-1	11	1605893	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	326334	1605893	133400623	277	92172											
OR51F2	119694	broad.mit.edu	37	chr11	4843542	4843542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctattatttacagtgtaaaGattaagcagattcaaaaggc	16	12	7	6	0	1	2	1	0	0	2	1	2	1	2	1	1	2	2	1	1	8	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:4843542G>A	ENST00000322110.5	+	1	992	c.927G>A	c.(925-927)aaG>aaA	p.K309K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGTAAAGATTAAGCAGA	0.383													126	100					0	0	0	0	A	4843542	G	A	4843542	2	1	479	1	0	0	0	0	0	0	0	1	11168	933	33	2		2	OR51F2	11	4843542	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3237649	4843542	130162974	278	92173											
TRIM3	10612	broad.mit.edu	37	chr11	6477356	6477356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcggccgctgctggctgcGgacacaccttgtaaattggt	7	10	13	11	3	0	0	0	0	0	0	0	1	0	1	2	4	3	4	2	4	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:6477356G>A	ENST00000525074.1	-	7	1873	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Silent_p.S493S|TRIM3_ENST00000345851.3_Silent_p.S493S|TRIM3_ENST00000537602.1_Silent_p.S415S|TRIM3_ENST00000536344.1_Silent_p.S374S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	493					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGCTGCGGACACACCTT	0.493													16	75					0	0	0	0	A	6477356	G	A	6477356	2	1	479	1	0	0	0	0	0	0	0	1	16599	1103	39	1		1	TRIM3	11	6477356	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1633814	6477356	128529160	279	92174											
DCHS1	8642	broad.mit.edu	37	chr11	6645101	6645101	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacggtaggatgctcgggtAaagacaggtgggttgtcatt	10	10	15	6	2	1	1	1	0	0	1	2	2	1	2	0	5	1	4	0	5	3	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:6645101A>G	ENST00000299441.3	-	21	8217	c.7806T>C	c.(7804-7806)ttT>ttC	p.F2602F		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2602	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCGGGTAAAGACAGGTG	0.572													26	311					0	0	0	0	G	6645101	A	G	6645101	2	3	479	1	0	0	0	0	0	0	0	1	4319	359	13	5		5	DCHS1	11	6645101	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	167745	6645101	128361415	280	92175											
OLFML1	283298	broad.mit.edu	37	chr11	7531294	7531294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttgcccaacttgttcttcCccaagagaccaagaagtcac	12	9	6	14	0	2	2	1	0	1	2	3	3	3	2	4	0	2	1	4	0	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:7531294C>T	ENST00000329293.3	+	3	1478	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.P362S|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	362	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTTGTTCTTCCCCAAGAGACC	0.502													51	89					0	0	0	0	T	7531294	C	T	7531294	3	4	479	1	0	0	0	0	1	0	0	0	10927	623	22	4	1094	4	OLFML1	11	7531294	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	886193	7531294	127475222	281	92176											
CYB5R2	51700	broad.mit.edu	37	chr11	7690551	7690552	+	Frame_Shift_Ins	INS	-	-	T																															caggatattgggggtgtacaINStttttgaagtagatctgaaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:7690551_7690552insT	ENST00000533558.1	-	5	828_829	c.272_273insA	c.(271-273)agtfs	p.S91fs	CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.S91fs|CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.S91fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.S91fs			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	91	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGTGTACATTTTTGAAGTA	0.46													24	162	---	---	---	---					T	7690552	-	T	7690551	7	5	479	1	0	1	1	0	0	0	0	0	4159	214	8	0	577	0	CYB5R2	11	7690551	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	159257	7690551	127315965	282	92177											
TMEM41B	440026	broad.mit.edu	37	chr11	9304991	9304992	+	Frame_Shift_Ins	INS	-	-	T																															tactcaaatttctgctttagINSttttttttggaagatggctg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:9304991_9304992insT	ENST00000528080.1	-	7	1193_1194	c.855_856insA	c.(853-858)aataaafs	p.NK285fs		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	285						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TTCTGCTTTAGTTTTTTTTGGA	0.342													41	43	---	---	---	---					T	9304992	-	T	9304991	7	5	479	1	0	1	1	0	0	0	0	0	16259	1020	36	0	23	0	TMEM41B	11	9304991	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1614440	9304991	125701525	283	92178											
USP47	55031	broad.mit.edu	37	chr11	11964389	11964389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagttcagtggacagtgatAttcttagctccagtcatagc	11	12	9	9	0	3	1	2	1	1	0	4	2	4	2	1	1	2	2	1	1	4	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:11964389A>G	ENST00000339865.5	+	19	3380	c.2617A>G	c.(2617-2619)Att>Gtt	p.I873V	USP47_ENST00000399455.2_Missense_Mutation_p.I961V|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.I941V	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	961					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGACAGTGATATTCTTAGCTC	0.408													9	137					0	0	0	0	G	11964389	A	G	11964389	3	3	479	1	0	0	0	0	1	0	0	0	17174	449	16	5	2691	5	USP47	11	11964389	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	2659398	11964389	123042127	284	92179											
ARNTL	406	broad.mit.edu	37	chr11	13375941	13375941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgctttccagctctcttgGtaccagtggtgtggattgca	5	14	11	11	0	1	0	0	0	1	0	3	1	2	1	3	3	4	4	3	3	1	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:13375941G>A	ENST00000389708.3	+	5	441	c.86G>A	c.(85-87)gGt>gAt	p.G29D	ARNTL_ENST00000396441.3_Missense_Mutation_p.G29D|ARNTL_ENST00000403290.1_Missense_Mutation_p.G29D|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000389707.4_Missense_Mutation_p.G29D|ARNTL_ENST00000361003.4_Missense_Mutation_p.G29D			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	29					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AGCTCTCTTGGTACCAGTGGT	0.512													13	92					0	0	0	0	A	13375941	G	A	13375941	3	1	479	1	0	0	0	0	1	0	0	0	971	1261	44	4	88	4	ARNTL	11	13375941	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1411552	13375941	121630575	285	92180											
PIK3C2A	5286	broad.mit.edu	37	chr11	17139068	17139068	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatccactagcctgccttacTttttctgctactcctcctaa	7	15	4	15	0	1	0	0	0	1	0	4	1	4	0	5	0	5	1	5	0	4	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:17139068T>C	ENST00000265970.7	-	18	3185	c.3186A>G	c.(3184-3186)aaA>aaG	p.K1062K	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.K682K	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1062					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CCTGCCTTACTTTTTCTGCTA	0.393													53	167					0	0	0	0	C	17139068	T	C	17139068	2	2	479	1	0	0	0	0	0	0	0	1	11981	1606	56	5		5	PIK3C2A	11	17139068	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	3763127	17139068	117867448	286	92181											
HPS5	11234	broad.mit.edu	37	chr11	18320386	18320386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagacagcatgtacgagcagCcaagttccataggcctcttc	12	8	9	12	1	1	1	0	0	1	1	3	2	2	1	3	1	4	4	3	1	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:18320386C>T	ENST00000396253.3	-	9	1237	c.775G>A	c.(775-777)Gct>Act	p.A259T	HPS5_ENST00000438420.2_Missense_Mutation_p.A259T|HPS5_ENST00000531848.1_Missense_Mutation_p.A259T|HPS5_ENST00000349215.3_Missense_Mutation_p.A373T	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	373						cytosol		p.A373S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTACGAGCAGCCAAGTTCCAT	0.463									Hermansky-Pudlak syndrome				34	198					0	0	0	0	T	18320386	C	T	18320386	3	4	479	1	0	0	0	0	1	0	0	0	7392	739	26	4	2328	4	HPS5	11	18320386	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1181318	18320386	116686130	287	92182											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955793	18955793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatcagccacgcgactGtgatgaaatctgatgtttga	15	10	9	7	2	2	4	1	4	1	0	2	5	2	4	1	0	1	1	1	0	4	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:18955793G>A	ENST00000302797.3	-	1	763	c.539C>T	c.(538-540)aCa>aTa	p.T180I	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	180					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACGCGACTGTGATGAAATC	0.532													4	123					0	0	0	0	A	18955793	G	A	18955793	3	1	479	1	0	0	0	0	1	0	0	0	9836	1377	48	4	433	4	MRGPRX1	11	18955793	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	635407	18955793	116050723	288	92183											
CD44	960	broad.mit.edu	37	chr11	35218339	35218339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgagacagcaaccaagagGcaagaaacctgggattggtt	15	6	12	8	0	0	3	0	1	0	3	0	5	0	4	2	3	3	3	2	3	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:35218339G>A	ENST00000428726.2	+	6	837	c.714G>A	c.(712-714)agG>agA	p.R238R	CD44_ENST00000433354.2_Silent_p.R238R|CD44_ENST00000437706.2_Silent_p.R238R|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Silent_p.R238R	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	238	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CAACCAAGAGGCAAGAAACCT	0.373													16	87					0	0	0	0	A	35218339	G	A	35218339	2	1	479	1	0	0	0	0	0	0	0	1	3046	1194	42	4		4	CD44	11	35218339	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	16262546	35218339	99788177	289	92184											
KBTBD4	55709	broad.mit.edu	37	chr11	47599055	47599055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtcttggcacagtgcttgGcagccgtatagagctcagga	8	9	15	9	1	2	1	1	0	1	1	2	2	2	2	1	4	3	5	1	4	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:47599055G>A	ENST00000533290.1	-	1	1286	c.572C>T	c.(571-573)gCc>gTc	p.A191V	KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215V|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166V|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A166V|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182V			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACAGTGCTTGGCAGCCGTATA	0.542													31	209					0	0	0	0	A	47599055	G	A	47599055	3	1	479	1	0	0	0	0	1	0	0	0	8048	1203	42	4	1071	4	KBTBD4	11	47599055	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	12380716	47599055	87407461	290	92185											
C1QTNF4	114900	broad.mit.edu	37	chr11	47611715	47611715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggaacacgccggccgcCgcgtcgaagtcgccgccaat	8	3	13	17	9	0	0	0	0	0	0	2	2	0	1	5	2	2	0	5	2	3	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:47611715C>T	ENST00000302514.3	-	2	1164	c.648G>A	c.(646-648)gcG>gcA	p.A216A		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	216	C1q 2.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGCCGGCCGCCGCGTCGAAGT	0.672													24	17					0	0	0	0	T	47611715	C	T	47611715	2	4	479	1	0	0	0	0	0	0	0	1	1984	639	23	1		1	C1QTNF4	11	47611715	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	12660	47611715	87394801	291	92186											
OR5I1	10798	broad.mit.edu	37	chr11	55703121	55703121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggagagtcccttggtaGatcgtcactgaagtcaggtg	11	9	14	7	1	2	4	2	1	0	3	4	5	3	4	1	3	0	1	1	3	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:55703121G>T	ENST00000301532.3	-	1	755	c.756C>A	c.(754-756)atC>atA	p.I252I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCCTTGGTAGATCGTCACTG	0.433													22	17					2.21704e-12	2.57375e-12	1	0	T	55703121	G	T	55703121	2	4	479	1	0	0	0	0	0	0	0	1	11235	932	33	2		2	OR5I1	11	55703121	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	8091406	55703121	79303395	292	92187											
MPEG1	219972	broad.mit.edu	37	chr11	58978660	58978660	+	Frame_Shift_Del	DEL	C	C	-																															gggctgggtgctggctgaagCccccggggcactttttcaga																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:58978660delC	ENST00000361050.3	-	1	1764	c.1679delG	c.(1678-1680)gcfs	p.G560fs		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	560						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTGGCTGAAGCCCCCGGGGCA	0.592													31	66	---	---	---	---					-	58978660	C	-	58978660	7	5	479	1	0	1	0	1	0	0	0	0	9793	739	26	0	475	0	MPEG1	11	58978660	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	3275539	58978660	76027856	293	92188											
SLC22A6	9356	broad.mit.edu	37	chr11	62747316	62747316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaggaagcccacaagcttgGcaggcaggtccacagcacca	13	3	11	14	0	0	0	0	0	0	0	1	1	1	1	3	4	3	4	3	4	3	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:62747316G>A	ENST00000377871.3	-	7	1408	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	SLC22A6_ENST00000458333.2_Missense_Mutation_p.A381V|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A381V|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A381V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	381					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACAAGCTTGGCAGGCAGGTC	0.582													37	32					0	0	0	0	A	62747316	G	A	62747316	3	1	479	1	0	0	0	0	1	0	0	0	14546	1203	42	4	565	4	SLC22A6	11	62747316	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3768656	62747316	72259200	294	92189											
SLC22A25	387601	broad.mit.edu	37	chr11	62996938	62996938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgagggtcccagggtCattgtcagggatagtgtcat	7	11	15	8	0	3	1	3	1	0	0	4	2	4	2	1	4	0	1	1	4	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:62996938C>A	ENST00000306494.6	-	1	186	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	63					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCCCAGGGTCATTGTCAGGG	0.502													35	73					5.8336e-16	6.98562e-16	1	0	A	62996938	C	A	62996938	3	1	479	1	0	0	0	0	1	0	0	0	14542	826	29	2	1492	2	SLC22A25	11	62996938	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	249622	62996938	72009578	295	92190											
PYGM	5837	broad.mit.edu	37	chr11	64521111	64521111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccaccagcgacatgCgccgcagccggtctacgtcc	6	6	9	20	5	1	0	0	0	1	0	4	1	4	0	7	1	4	1	7	1	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:64521111C>T	ENST00000164139.3	-	11	1681	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	PYGM_ENST00000377432.3_Missense_Mutation_p.R340H	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	428					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGCGACATGCGCCGCAGCCG	0.687													5	10					0	0	0	0	T	64521111	C	T	64521111	3	4	479	1	0	0	0	0	1	0	0	0	12944	768	27	1	1285	1	PYGM	11	64521111	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1524173	64521111	70485405	296	92191											
MAP3K11	4296	broad.mit.edu	37	chr11	65375418	65375418	+	Frame_Shift_Del	DEL	G	G	-																															ataagctgtgcgaagggctcGgggcaggtggatgggatggg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:65375418delG	ENST00000309100.3	-	3	1529	c.1044delC	c.(1042-1044)ccfs	p.P348fs	MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.P91fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	348	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGAAGGGCTCGGGGCAGGTGG	0.617													7	25	---	---	---	---					-	65375418	G	-	65375418	7	5	479	1	0	1	0	1	0	0	0	0	9314	1103	39	0	1531	0	MAP3K11	11	65375418	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	854307	65375418	69631098	297	92192											
CTSW	1521	broad.mit.edu	37	chr11	65650554	65650554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggaattgcgcagtacCtggccacttatggccccatc	8	8	9	16	1	0	0	0	0	0	0	1	1	0	1	6	3	2	2	6	3	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:65650554C>A	ENST00000528419.1	+	8	764	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	CTSW_ENST00000307886.3_Missense_Mutation_p.L254M			P56202	CATW_HUMAN	cathepsin W	254					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		TGCGCAGTACCTGGCCACTTA	0.592													33	141					3.76114e-14	4.42944e-14	1	0	A	65650554	C	A	65650554	3	1	479	1	0	0	0	0	1	0	0	0	4074	680	24	4	790	4	CTSW	11	65650554	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	275136	65650554	69355962	298	92193											
SPTBN2	6712	broad.mit.edu	37	chr11	66461787	66461787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtgctttggcctgggcctgGattgcctccacctccttctc	3	13	10	15	0	1	0	0	0	1	0	4	1	3	1	6	3	2	1	6	3	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66461787G>A	ENST00000533211.1	-	22	4657	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	SPTBN2_ENST00000309996.2_Silent_p.I1442I|SPTBN2_ENST00000529997.1_Silent_p.I1442I			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1442					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTGGGCCTGGATTGCCTCCA	0.607											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	35					0	0	0	0	A	66461787	G	A	66461787	2	1	479	1	0	0	0	0	0	0	0	1	15210	1164	41	2		2	SPTBN2	11	66461787	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	811233	66461787	68544729	299	92194											
RCE1	9986	broad.mit.edu	37	chr11	66613501	66613501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacggaccccaagctctacGgcagccttcccctttgtgtg	6	10	9	16	2	2	0	1	0	1	0	3	1	3	1	5	2	3	2	5	2	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66613501G>A	ENST00000309657.3	+	8	969	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	RCE1_ENST00000525356.1_Missense_Mutation_p.G186S|RCE1_ENST00000524506.1_Missense_Mutation_p.G288S	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	309					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CAAGCTCTACGGCAGCCTTCC	0.632													31	96					0	0	0	0	A	66613501	G	A	66613501	3	1	479	1	0	0	0	0	1	0	0	0	13258	1116	39	1	955	1	RCE1	11	66613501	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	151714	66613501	68393015	300	92195											
SYT12	91683	broad.mit.edu	37	chr11	66807584	66807584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggtgatgcagggcaaGgacctcctggagcgggagga	8	5	20	8	2	0	1	0	1	0	0	1	5	1	5	2	7	2	2	2	7	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66807584G>T	ENST00000393946.2	+	7	1693	c.531G>T	c.(529-531)aaG>aaT	p.K177N	SYT12_ENST00000525457.1_Missense_Mutation_p.K177N|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.K177N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	177	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGCAGGGCAAGGACCTCCTGG	0.632													5	44					0.014758	0.0149681	1	0	T	66807584	G	T	66807584	3	4	479	1	0	0	0	0	1	0	0	0	15559	991	35	4	541	4	SYT12	11	66807584	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	194083	66807584	68198932	301	92196											
SSH3	54961	broad.mit.edu	37	chr11	67077586	67077587	+	Frame_Shift_Ins	INS	-	-	A																															gggtggggtctccccagaggINSagcacccagcccctgaagtc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67077586_67077587insA	ENST00000308127.4	+	13	1637_1638	c.1459_1460insA	c.(1459-1461)gcafs	p.A487fs	SSH3_ENST00000376757.5_Intron|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	487					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTCCCCAGAGGAGCACCCAGCC	0.629													37	61	---	---	---	---					A	67077587	-	A	67077586	7	5	479	1	0	1	1	0	0	0	0	0	15276	1175	41	0	1509	0	SSH3	11	67077586	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	270002	67077586	67928930	302	92197											
RAD9A	5883	broad.mit.edu	37	chr11	67161083	67161083	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcattgcaagttcggTgagtgggcagccggccagcc	7	7	15	12	2	0	1	0	1	0	0	1	1	0	1	3	3	5	5	3	3	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67161083T>C	ENST00000307980.2	+	4	442		c.e4+2			NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)						DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCAAGTTCGGTGAGTGGGCAG	0.637								Other conserved DNA damage response genes					36	19					0	0	0	0	C	67161083	T	C	67161083	5	2	479	1	0	0	0	0	0	0	1	0	13077	1710	59	5	365	5	RAD9A	11	67161083	Splice_Site	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	83497	67161083	67845433	303	92198											
GPR152	390212	broad.mit.edu	37	chr11	67220087	67220087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaaggagcagcagggccaCcaggaagaccgtgtcccagc	11	2	13	15	1	0	1	0	0	0	1	1	3	1	3	5	3	3	2	5	3	2	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67220087C>A	ENST00000312457.2	-	1	113	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCAGGGCCACCAGGAAGACC	0.667													6	17					0.0215528	0.0218207	1	0	A	67220087	C	A	67220087	3	1	479	1	0	0	0	0	1	0	0	0	6707	507	18	4	1307	4	GPR152	11	67220087	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	59004	67220087	67786429	304	92199											
NUMA1	4926	broad.mit.edu	37	chr11	71723995	71723995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcctctcctccaggacCttgaccttggcaccctcata	6	10	7	18	1	2	1	1	1	1	0	4	2	3	2	6	2	1	2	6	2	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:71723995C>A	ENST00000393695.3	-	15	4885	c.4554G>T	c.(4552-4554)aaG>aaT	p.K1518N	NUMA1_ENST00000358965.6_Missense_Mutation_p.K1518N|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1518					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCTCCAGGACCTTGACCTTGG	0.592			T	RARA	APL								20	51					1.56452e-12	1.81996e-12	1	0	A	71723995	C	A	71723995	3	1	479	1	0	0	0	0	1	0	0	0	10821	680	24	4	1845	4	NUMA1	11	71723995	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4503908	71723995	63282521	305	92200											
UCP3	7352	broad.mit.edu	37	chr11	73716905	73716905	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcggaccttcaccacatcTgtgggctgggcacaggtcac	9	8	11	13	1	3	0	2	0	1	0	4	1	3	1	2	4	0	2	2	4	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:73716905T>C	ENST00000314032.4	-	4	963	c.411A>G	c.(409-411)acA>acG	p.T137T	UCP3_ENST00000426995.2_Silent_p.T137T|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	137					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCACCACATCTGTGGGCTGGG	0.612													22	43					0	0	0	0	C	73716905	T	C	73716905	2	2	479	1	0	0	0	0	0	0	0	1	17028	1567	55	5		5	UCP3	11	73716905	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	1992910	73716905	61289611	306	92201											
ALG8	79053	broad.mit.edu	37	chr11	77830229	77830229	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaacaattatgtttaccTgaaataatcgtgcaatggag	16	13	7	5	1	0	1	0	1	0	0	1	2	0	2	1	1	3	2	1	1	8	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:77830229T>C	ENST00000376156.3	-	5	548	c.546_splice	c.e5+1	p.Q182_splice	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Splice_Site_p.Q182_splice	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	182					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TATGTTTACCTGAAATAATCG	0.318													20	56					0	0	0	0	C	77830229	T	C	77830229	5	2	479	1	0	0	0	0	0	0	1	0	523	1594	55	5	1130	5	ALG8	11	77830229	Splice_Site	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	4113324	77830229	57176287	307	92202											
NARS2	79731	broad.mit.edu	37	chr11	78204128	78204128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcataagatcttgaaggCtgtcaacaaaagaaatctct	15	10	7	9	0	3	3	1	1	2	2	4	3	3	3	1	1	2	2	1	1	6	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:78204128C>T	ENST00000281038.5	-	7	1178	c.803G>A	c.(802-804)aGc>aAc	p.S268N	NARS2_ENST00000528850.1_Missense_Mutation_p.S41N	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	268					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	ATCTTGAAGGCTGTCAACAAA	0.393													20	72					0	0	0	0	T	78204128	C	T	78204128	3	4	479	1	0	0	0	0	1	0	0	0	10241	797	28	4	662	4	NARS2	11	78204128	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	373899	78204128	56802388	308	92203											
FAT3	120114	broad.mit.edu	37	chr11	92532716	92532716	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttcccatcactattgtCaacaaagcaatgcctgtgtt	11	12	7	11	0	2	0	2	0	0	0	3	1	3	0	2	0	4	3	2	0	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:92532716C>A	ENST00000298047.6	+	9	6554	c.6537C>A	c.(6535-6537)gtC>gtA	p.V2179V	FAT3_ENST00000409404.2_Silent_p.V2179V|FAT3_ENST00000525166.1_Silent_p.V2029V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2179	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACTATTGTCAACAAAGCAA	0.443										TCGA Ovarian(4;0.039)			9	40					4.68919e-08	5.17992e-08	1	0	A	92532716	C	A	92532716	2	1	479	1	0	0	0	0	0	0	0	1	5736	813	29	2		2	FAT3	11	92532716	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	14328588	92532716	42473800	309	92204											
MED17	9440	broad.mit.edu	37	chr11	93517824	93517825	+	Frame_Shift_Del	DEL	TT	TT	-																															gtctggcccagcggatagacTtcagccagggttcgggctcc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:93517824_93517825delTT	ENST00000251871.3	+	1	432_433	c.145_146delTT	c.(145-147)cfs	p.F49fs	MED17_ENST00000530819.1_Frame_Shift_Del_p.F49fs	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	49					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCGGATAGACTTCAGCCAGGGT	0.703													3	3	---	---	---	---					-	93517825	TT	-	93517824	7	5	479	1	0	1	0	1	0	0	0	0	9504	1609	56	0	147	0	MED17	11	93517824	Frame_Shift_Del	DEL	TT	TCGA-QK-A6VB-01A-12D-A34J-08	985108	93517824	41488692	310	92205											
AMOTL1	154810	broad.mit.edu	37	chr11	94533350	94533351	+	Frame_Shift_Ins	INS	-	-	T																															caagacccaggagcacggacINSttttttatggtgaccagcac																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:94533350_94533351insT	ENST00000433060.2	+	3	1135_1136	c.994_995insT	c.(994-996)tttfs	p.F332fs	AMOTL1_ENST00000317837.9_Frame_Shift_Ins_p.F332fs|AMOTL1_ENST00000317829.8_Frame_Shift_Ins_p.F282fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	332						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGAGCACGGACTTTTTTATGGT	0.589													39	127	---	---	---	---					T	94533351	-	T	94533350	7	5	479	1	0	1	1	0	0	0	0	0	583	565	20	0	1004	0	AMOTL1	11	94533350	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1015526	94533350	40473166	311	92206											
APOA4	337	broad.mit.edu	37	chr11	116692031	116692033	+	In_Frame_Del	DEL	TTC	TTC	-																															tggccttgagctcctcggcgTtcttcttcatctggaaggtc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:116692031_116692033delTTC	ENST00000357780.3	-	3	855_857	c.741_743delGAA	c.(739-744)aac>aa	p.KN247del		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTCCTCGGCGTTCTTCTTCATCT	0.655													38	64	---	---	---	---					-	116692033	TTC	-	116692031	7	5	479	1	0	1	0	1	0	0	0	0	785	1725	60	0	451	0	APOA4	11	116692031	In_Frame_Del	DEL	TTC	TCGA-QK-A6VB-01A-12D-A34J-08	22158681	116692031	18314485	312	92207											
HSPA8	3312	broad.mit.edu	37	chr11	122928465	122928465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaacctcttcaatggtggGccctgaggaagcaccaccag	11	7	10	13	0	3	1	2	1	1	0	3	2	3	2	4	3	2	1	4	3	3	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:122928465G>A	ENST00000534624.1	-	9	2194	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S	HSPA8_ENST00000534319.1_Missense_Mutation_p.P404S|HSPA8_ENST00000533540.1_Missense_Mutation_p.P494S|HSPA8_ENST00000532636.1_Missense_Mutation_p.P640S|HSPA8_ENST00000526110.1_Missense_Mutation_p.P621S|HSPA8_ENST00000453788.2_Missense_Mutation_p.P487S|HSPA8_ENST00000227378.3_Missense_Mutation_p.P640S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	640					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAATGGTGGGCCCTGAGGAA	0.498													49	20					0	0	0	0	A	122928465	G	A	122928465	3	1	479	1	0	0	0	0	1	0	0	0	7468	1203	42	4	26	4	HSPA8	11	122928465	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	6236434	122928465	12078051	313	92208											
OR8B4	283162	broad.mit.edu	37	chr11	124294014	124294015	+	Frame_Shift_Ins	INS	-	-	A																															taggtgaatgtccctgacccINSaaaaaacagagcaacagcaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:124294014_124294015insA	ENST00000356130.3	-	1	774_775	c.753_754insT	c.(751-756)ttggtcfs	p.LV251fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTCCCTGACCCAAAAAACAGAG	0.45													30	11	---	---	---	---					A	124294015	-	A	124294014	7	5	479	1	0	1	1	0	0	0	0	0	11300	594	21	0	177	0	OR8B4	11	124294014	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1365549	124294014	10712502	314	92209											
WNK1	65125	broad.mit.edu	37	chr12	994623	994623	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaccatcttcctcttcCtctcctggagcaggagtgtc	5	13	8	15	0	4	0	0	0	4	0	8	2	6	2	4	2	2	2	4	2	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:994623C>A	ENST00000537687.1	+	19	6076	c.5433C>A	c.(5431-5433)tcC>tcA	p.S1811S	WNK1_ENST00000530271.2_Silent_p.S2049S|WNK1_ENST00000315939.6_Silent_p.S1551S|WNK1_ENST00000340908.4_Silent_p.S1144S|WNK1_ENST00000535572.1_Silent_p.S1304S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1551					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCCTCTTCCTCTCCTGGAG	0.478													118	372					8.58103e-55	1.07973e-54	1	0	A	994623	C	A	994623	2	1	479	1	0	0	0	0	0	0	0	1	17473	668	24	4		4	WNK1	12	994623	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08		994623	132857272	315	92210											
C12orf4	57102	broad.mit.edu	37	chr12	4645271	4645271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaggaaatttgagtggCactctcagttctaagcactg	12	11	10	8	0	2	2	1	2	2	0	3	3	2	3	0	2	2	3	0	2	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:4645271C>T	ENST00000261250.3	-	2	177	c.90G>A	c.(88-90)gtG>gtA	p.V30V	C12orf4_ENST00000545746.1_Silent_p.V30V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	30										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTTGAGTGGCACTCTCAGTT	0.378													5	105					0	0	0	0	T	4645271	C	T	4645271	2	4	479	1	0	0	0	0	0	0	0	1	1697	697	25	4		4	C12orf4	12	4645271	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3650648	4645271	129206624	316	92211											
ZNF384	171017	broad.mit.edu	37	chr12	6781536	6781536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgtgtgctgctggaggtgGgagagctggcggaaggcctt	5	9	20	7	2	0	1	0	0	0	1	0	4	0	3	1	6	3	3	1	6	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:6781536G>A	ENST00000396801.3	-	8	1281	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000361959.3_Silent_p.S358S	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GCTGGAGGTGGGAGAGCTGGC	0.667			T	"EWSR1, TAF15 "	ALL								22	28					0	0	0	0	A	6781536	G	A	6781536	2	1	479	1	0	0	0	0	0	0	0	1	17970	1219	43	4		4	ZNF384	12	6781536	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2136265	6781536	127070359	317	92212											
MANSC1	54682	broad.mit.edu	37	chr12	12483053	12483053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggattctacccaggaggaCgaggcctatcaccaggaaca	13	5	12	11	1	2	0	1	0	1	0	2	6	2	4	3	5	2	0	3	5	3	3	rs138511907		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:12483053C>T	ENST00000535902.1	-	4	1767	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	MANSC1_ENST00000396349.3_Missense_Mutation_p.V368I|MANSC1_ENST00000545735.1_Missense_Mutation_p.V321I			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	402						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCCAGGAGGACGAGGCCTATC	0.483													33	42					0	0	0	0	T	12483053	C	T	12483053	3	4	479	1	0	0	0	0	1	0	0	0	9293	536	19	1	95	1	MANSC1	12	12483053	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5701517	12483053	121368842	318	92213											
WBP11	51729	broad.mit.edu	37	chr12	14947541	14947541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctagggcaaaacccactttAcggccatacatctgcacgac	12	8	7	14	2	2	0	0	0	2	0	2	1	2	0	2	2	4	2	2	2	5	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:14947541A>G	ENST00000261167.2	-	7	884	c.651T>C	c.(649-651)cgT>cgC	p.R217R	WBP11_ENST00000537574.1_Silent_p.R217R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	217	Interaction with PP1 (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AACCCACTTTACGGCCATACA	0.507													60	245					0	0	0	0	G	14947541	A	G	14947541	2	3	479	1	0	0	0	0	0	0	0	1	17354	378	14	5		5	WBP11	12	14947541	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	2464488	14947541	118904354	319	92214											
ITPR2	3709	broad.mit.edu	37	chr12	26572134	26572134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaactcaccagaaaaacaaTtttattacaaagctaaaggg	21	8	5	7	0	1	1	1	0	0	1	1	1	1	1	1	1	4	1	1	1	10	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:26572134T>G	ENST00000381340.3	-	50	7374	c.6958A>C	c.(6958-6960)Att>Ctt	p.I2320L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2320					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGAAAAACAATTTTATTACAA	0.413													20	63					0	0	0	0	G	26572134	T	G	26572134	3	3	479	1	0	0	0	0	1	0	0	0	7974	1493	52	5	1179	5	ITPR2	12	26572134	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	11624593	26572134	107279761	320	92215											
ALG10	84920	broad.mit.edu	37	chr12	34179005	34179005	+	Missense_Mutation	SNP	G	G	A																															ggcaaacaaatatcatctggGctgtcttctgtgcaggaaat																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:34179005G>A	ENST00000266483.2	+	3	896	c.577G>A	c.(577-579)Gct>Act	p.A193T	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	193					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TATCATCTGGGCTGTCTTCTG	0.398													5	304					0	0	0	0	A	34179005	G	A	34179005	3	1	479	1	0	0	0	0	1	0	0	0	511	1203	42	4	587	4	ALG10	12	34179005	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7606871	34179005	99672890	321	92216	1121	2									
ALG10	84920	broad.mit.edu	37	chr12	34179015	34179015	+	Missense_Mutation	SNP	G	G	A																															tatcatctgggctgtcttctGtgcaggaaatgtcattgcac																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:34179015G>A	ENST00000266483.2	+	3	906	c.587G>A	c.(586-588)tGt>tAt	p.C196Y	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	196					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGTCTTCTGTGCAGGAAAT	0.403													136	173					0	0	0	0	A	34179015	G	A	34179015	3	1	479	1	0	0	0	0	1	0	0	0	511	1377	48	4	597	4	ALG10	12	34179015	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	10	34179015	99672880	322	92217	1121	2									
PPHLN1	51535	broad.mit.edu	37	chr12	42778764	42778764	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgcgtcctggtgcctcCtacaaacggcagaatgaagg	9	8	12	12	3	0	2	0	1	0	1	3	2	3	2	4	3	4	1	4	3	4	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:42778764C>A	ENST00000432191.2	+	5	441	c.369C>A	c.(367-369)tcC>tcA	p.S123S	PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000337898.6_Silent_p.S123S|PPHLN1_ENST00000395568.2_Silent_p.S178S|PPHLN1_ENST00000358314.7_Silent_p.S178S|PPHLN1_ENST00000549190.1_Silent_p.S196S|PPHLN1_ENST00000395580.3_Silent_p.S185S|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000552761.1_Silent_p.S130S	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	178					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CTGGTGCCTCCTACAAACGGC	0.498													9	84					0.000673444	0.00070693	1	0	A	42778764	C	A	42778764	2	1	479	1	0	0	0	0	0	0	0	1	12386	668	24	4		4	PPHLN1	12	42778764	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	8599749	42778764	91073131	323	92218											
PRPF40B	25766	broad.mit.edu	37	chr12	50026874	50026874	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgacaagcagtccgtgtgGgagaagcccagcgtgctcaa	11	5	14	11	3	1	1	1	0	0	1	2	4	2	1	2	1	4	2	2	1	3	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:50026874G>A	ENST00000261897.1	+	6	893	c.342G>A	c.(340-342)tgG>tgA	p.W114*	PRPF40B_ENST00000548825.2_Nonsense_Mutation_p.W142*|PRPF40B_ENST00000380281.1_Nonsense_Mutation_p.W120*			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	120	WW 1.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGTCCGTGTGGGAGAAGCCCA	0.617													5	18					0	0	0	0	A	50026874	G	A	50026874	4	1	479	1	0	0	0	0	0	1	0	0	12652	1241	43	4	382	4	PRPF40B	12	50026874	Nonsense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7248110	50026874	83825021	324	92219											
NCKAP5L	57701	broad.mit.edu	37	chr12	50189460	50189461	+	Frame_Shift_Ins	INS	-	-	C																															gtttgtgcccaaggccactgINSccccccgtatcccccccttg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:50189460_50189461insC	ENST00000335999.6	-	8	2383_2384	c.2182_2183insG	c.(2182-2184)agtfs	p.S728fs		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	724										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAAGGCCACTGCCCCCCGTATC	0.653													7	21	---	---	---	---					C	50189461	-	C	50189460	7	5	479	1	0	1	1	0	0	0	0	0	10294	1319	46	0	1845	0	NCKAP5L	12	50189460	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	162586	50189460	83662435	325	92220											
GALNT6	11226	broad.mit.edu	37	chr12	51748216	51748216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattgcagggggccatggCtggctttttgtcctgggatg	4	12	18	7	0	0	0	0	0	0	0	1	2	1	2	2	6	1	3	2	6	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:51748216C>T	ENST00000543196.2	-	11	2021	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T	GALNT6_ENST00000356317.3_Missense_Mutation_p.A606T			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	606	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGGCCATGGCTGGCTTTTTG	0.542													4	53					0	0	0	0	T	51748216	C	T	51748216	3	4	479	1	0	0	0	0	1	0	0	0	6266	797	28	4	56	4	GALNT6	12	51748216	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1558756	51748216	82103679	326	92221											
KRT6B	3854	broad.mit.edu	37	chr12	52845356	52845356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcaaacttgttgttgagGgtcttgatctgctcacgctc	7	13	12	9	1	3	2	1	2	2	0	4	3	3	2	0	2	2	5	0	2	1	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:52845356G>A	ENST00000252252.3	-	1	554	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	169	Coil 1A.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGTTGTTGAGGGTCTTGATCT	0.582													23	197					0	0	0	0	A	52845356	G	A	52845356	2	1	479	1	0	0	0	0	0	0	0	1	8533	1219	43	4		4	KRT6B	12	52845356	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1097140	52845356	81006539	327	92222											
HOXC10	3226	broad.mit.edu	37	chr12	54379591	54379591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggccagtctcaacccgcGcgccgaacatctggaatcgc	8	5	12	16	6	2	0	1	0	2	0	4	2	2	1	3	2	2	0	3	2	3	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:54379591G>A	ENST00000303460.4	+	1	622	c.548G>A	c.(547-549)cGc>cAc	p.R183H		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	183					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CTCAACCCGCGCGCCGAACAT	0.642													32	52					0	0	0	0	A	54379591	G	A	54379591	3	1	479	1	0	0	0	0	1	0	0	0	7359	1087	38	1	550	1	HOXC10	12	54379591	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1534235	54379591	79472304	328	92223											
R3HDM2	22864	broad.mit.edu	37	chr12	57648753	57648753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagtcccactgttgtcccCcccaccccctccaggcagcc	6	6	7	22	0	0	0	0	0	0	0	3	0	3	0	8	1	2	3	8	1	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:57648753C>A	ENST00000402412.1	-	24	3166	c.2776G>T	c.(2776-2778)Ggg>Tgg	p.G926W	R3HDM2_ENST00000403821.2_Missense_Mutation_p.G946W|R3HDM2_ENST00000393811.2_Missense_Mutation_p.G639W|R3HDM2_ENST00000347140.3_Missense_Mutation_p.G912W|R3HDM2_ENST00000413953.2_Intron|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000358907.2_Missense_Mutation_p.G912W|R3HDM2_ENST00000441731.2_Missense_Mutation_p.G607W			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	912						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTGTTGTCCCCCCCACCCCCT	0.632													17	65					1.15088e-07	1.26397e-07	1	0	A	57648753	C	A	57648753	3	1	479	1	0	0	0	0	1	0	0	0	12970	623	22	4	200	4	R3HDM2	12	57648753	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3269162	57648753	76203142	329	92224											
CAND1	55832	broad.mit.edu	37	chr12	67699818	67699818	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactctcagagcacagctctTactcataagcagtcttatta	12	13	5	11	0	4	1	2	0	3	1	5	1	4	1	0	0	5	3	0	0	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:67699818T>C	ENST00000545606.1	+	10	2807	c.2370T>C	c.(2368-2370)ctT>ctC	p.L790L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	790					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCACAGCTCTTACTCATAAGC	0.433													44	140					0	0	0	0	C	67699818	T	C	67699818	2	2	479	1	0	0	0	0	0	0	0	1	2640	1741	61	5		5	CAND1	12	67699818	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	10051065	67699818	66152077	330	92225											
BEST3	144453	broad.mit.edu	37	chr12	70049362	70049362	+	Frame_Shift_Del	DEL	G	G	-																															ttccaggtgggtgaggccctGggggggtttcttgagggcac																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:70049362delG	ENST00000330891.5	-	10	1558	c.1332delC	c.(1330-1332)ccfs	p.P444fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGGCCCTGGGGGGGTTTC	0.592													46	70	---	---	---	---					-	70049362	G	-	70049362	7	5	479	1	0	1	0	1	0	0	0	0	1410	1335	47	0	678	0	BEST3	12	70049362	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	2349544	70049362	63802533	331	92226											
TSPAN8	7103	broad.mit.edu	37	chr12	71523156	71523156	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccaataactataatcaaAttttttgccaagaagtcttt	15	16	3	7	0	2	1	1	0	1	1	3	1	3	1	2	0	2	0	2	0	7	8	rs139952436	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:71523156A>T	ENST00000393330.2	-	11	1167	c.615T>A	c.(613-615)aaT>aaA	p.N205K	TSPAN8_ENST00000552128.1_Missense_Mutation_p.N122K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.N205K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.N205K			P19075	TSN8_HUMAN	tetraspanin 8	205					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCA	0.269													9	47					0	0	0	0	T	71523156	A	T	71523156	3	4	479	1	0	0	0	0	1	0	0	0	16748	98	4	5	106	5	TSPAN8	12	71523156	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	1473794	71523156	62328739	332	92227											
IKBIP	121457	broad.mit.edu	37	chr12	99007664	99007664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgtttgtcgaagtcaCtctttagttcggttagcgtc	6	17	10	8	3	2	0	1	0	1	0	5	1	2	0	0	1	1	4	0	1	4	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:99007664C>A	ENST00000342502.2	-	3	1163	c.752G>T	c.(751-753)aGt>aTt	p.S251I	IKBIP_ENST00000420861.1_Missense_Mutation_p.S145I|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	251					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GTCGAAGTCACTCTTTAGTTC	0.388													39	115					1.49673e-21	1.81906e-21	1	0	A	99007664	C	A	99007664	3	1	479	1	0	0	0	0	1	0	0	0	7662	565	20	4	304	4	IKBIP	12	99007664	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	27484508	99007664	34844231	333	92228											
APAF1	317	broad.mit.edu	37	chr12	99053045	99053045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttggatcaggatgagagtTtttcccagaggcttccactt	8	13	12	8	0	1	2	1	1	0	2	3	5	3	4	2	4	0	3	2	4	0	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:99053045T>C	ENST00000357310.1	+	5	1211	c.634T>C	c.(634-636)Ttt>Ctt	p.F212L	APAF1_ENST00000549007.1_Missense_Mutation_p.F212L|APAF1_ENST00000547045.1_Missense_Mutation_p.F212L|APAF1_ENST00000551964.1_Missense_Mutation_p.F212L|APAF1_ENST00000552268.1_Missense_Mutation_p.F212L|APAF1_ENST00000359972.2_Missense_Mutation_p.F201L|APAF1_ENST00000550527.1_Missense_Mutation_p.F201L|APAF1_ENST00000339433.3_Missense_Mutation_p.F212L|APAF1_ENST00000333991.1_Missense_Mutation_p.F212L	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	212	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GGATGAGAGTTTTTCCCAGAG	0.473													25	127					0	0	0	0	C	99053045	T	C	99053045	3	2	479	1	0	0	0	0	1	0	0	0	756	1841	64	5	648	5	APAF1	12	99053045	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	45381	99053045	34798850	334	92229											
ASCL1	429	broad.mit.edu	37	chr12	103352503	103352503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtaaggtggagacactgCgctcggcggtcgagtacatc	9	8	15	9	4	0	2	0	1	0	1	3	4	0	2	0	4	2	3	0	4	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:103352503C>T	ENST00000266744.3	+	1	1040	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	161	Helix-loop-helix motif.				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GGAGACACTGCGCTCGGCGGT	0.657													25	39					0	0	0	0	T	103352503	C	T	103352503	3	4	479	1	0	0	0	0	1	0	0	0	1038	768	27	1	483	1	ASCL1	12	103352503	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4299458	103352503	30499392	335	92230											
TRPV4	59341	broad.mit.edu	37	chr12	110232202	110232202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacaggtaggagaccaCgttgatgtagaaggagacgg	13	5	16	7	2	0	4	0	1	0	3	0	6	0	4	1	5	0	4	1	5	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:110232202C>T	ENST00000418703.2	-	7	1517	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	TRPV4_ENST00000544971.1_Missense_Mutation_p.V368M|TRPV4_ENST00000261740.2_Missense_Mutation_p.V475M|TRPV4_ENST00000392719.2_Missense_Mutation_p.V428M|TRPV4_ENST00000537083.1_Missense_Mutation_p.V415M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V441M|TRPV4_ENST00000346520.2_Missense_Mutation_p.V415M|TRPV4_ENST00000541794.1_Missense_Mutation_p.V428M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	475					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TAGGAGACCACGTTGATGTAG	0.622													52	69					0	0	0	0	T	110232202	C	T	110232202	3	4	479	1	0	0	0	0	1	0	0	0	16693	536	19	1	1228	1	TRPV4	12	110232202	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	6879699	110232202	23619693	336	92231											
TRPV4	59341	broad.mit.edu	37	chr12	110252320	110252320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgggcccaggcaccacCgaggactcatatagggtgga	9	8	13	11	1	2	0	1	0	1	0	2	3	2	2	3	5	0	1	3	5	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:110252320C>T	ENST00000418703.2	-	1	376	c.282G>A	c.(280-282)tcG>tcA	p.S94S	TRPV4_ENST00000544971.1_Silent_p.S94S|TRPV4_ENST00000261740.2_Silent_p.S94S|TRPV4_ENST00000392719.2_Silent_p.S94S|TRPV4_ENST00000537083.1_Silent_p.S94S|TRPV4_ENST00000536838.1_Silent_p.S60S|TRPV4_ENST00000346520.2_Silent_p.S94S|TRPV4_ENST00000541794.1_Silent_p.S94S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	94					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAGGCACCACCGAGGACTCAT	0.577													11	41					0	0	0	0	T	110252320	C	T	110252320	2	4	479	1	0	0	0	0	0	0	0	1	16693	639	23	1		1	TRPV4	12	110252320	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	20118	110252320	23599575	337	92232											
SH2B3	10019	broad.mit.edu	37	chr12	111884578	111884578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaaggcccaagctacaaGcagcttgctccagcatccag	11	7	9	14	0	1	0	1	0	0	0	3	0	3	0	3	1	6	6	3	1	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:111884578G>A	ENST00000341259.2	+	3	1111	c.754G>A	c.(754-756)Gca>Aca	p.A252T	SH2B3_ENST00000538307.1_Missense_Mutation_p.A50T	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	252	PH.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CAAGCTACAAGCAGCTTGCTC	0.517													4	44					0	0	0	0	A	111884578	G	A	111884578	3	1	479	1	0	0	0	0	1	0	0	0	14316	971	34	4	760	4	SH2B3	12	111884578	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1632258	111884578	21967317	338	92233											
COQ5	84274	broad.mit.edu	37	chr12	120942767	120942767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctggtttcagcaccCgatgagcttcctggagtgcc	5	11	11	14	1	1	1	1	1	0	0	4	3	4	2	5	2	3	3	5	2	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:120942767C>T	ENST00000288532.6	-	5	741	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	COQ5_ENST00000445328.2_Missense_Mutation_p.R160Q	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	234					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCAGCACCCGATGAGCTTC	0.478													24	35					0	0	0	0	T	120942767	C	T	120942767	3	4	479	1	0	0	0	0	1	0	0	0	3778	652	23	1	294	1	COQ5	12	120942767	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	9058189	120942767	12909128	339	92234											
KDM2B	84678	broad.mit.edu	37	chr12	121947745	121947747	+	In_Frame_Del	DEL	CTC	CTC	-																															ccctcgccctcctcgtccttCtcctcctcctcctgaggctg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:121947745_121947747delCTC	ENST00000377069.4	-	11	1583_1585	c.1177_1179delGAG	c.(1177-1179)del	p.E393del	KDM2B_ENST00000377071.4_In_Frame_Del_p.E424del|KDM2B_ENST00000536437.1_In_Frame_Del_p.E307del|KDM2B_ENST00000538046.2_In_Frame_Del_p.E334del	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	424					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						cctcgtccttctcctcctcctcc	0.65													16	35	---	---	---	---					-	121947747	CTC	-	121947745	7	5	479	1	0	1	0	1	0	0	0	0	8178	912	32	0	2842	0	KDM2B	12	121947745	In_Frame_Del	DEL	CTC	TCGA-QK-A6VB-01A-12D-A34J-08	1004978	121947745	11904150	340	92235											
GPR133	283383	broad.mit.edu	37	chr12	131476934	131476934	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagccttgaatctcacCaaggtaaggctatttgatgt	12	11	9	9	0	1	3	1	2	1	1	2	3	1	3	2	2	1	2	2	2	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:131476934C>A	ENST00000261654.5	+	8	1522	c.963C>A	c.(961-963)acC>acA	p.T321T	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Silent_p.T353T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)		TGAATCTCACCAAGGTAAGGC	0.483													18	136					3.32936e-07	3.62856e-07	1	0	A	131476934	C	A	131476934	2	1	479	1	0	0	0	0	0	0	0	1	6692	581	21	4		4	GPR133	12	131476934	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	9529189	131476934	2374961	341	92236											
EP400	57634	broad.mit.edu	37	chr12	132522263	132522264	+	Frame_Shift_Ins	INS	-	-	A																															ccattgaagagaaattgttgINSaaaaatggaactaaagatct																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:132522263_132522264insA	ENST00000333577.4	+	32	6205_6206	c.6096_6097insA	c.(6094-6099)ttaaaafs	p.LK2032fs	EP400_ENST00000332482.4_Frame_Shift_Ins_p.LK1959fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.LK1915fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.LK1995fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.LK1996fs			Q96L91	EP400_HUMAN	E1A binding protein p400	2032	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.N1997fs*4(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAAATTGTTGAAAAATGGAAC	0.436													10	130	---	---	---	---					A	132522264	-	A	132522263	7	5	479	1	0	1	1	0	0	0	0	0	5187	1281	45	0	6103	0	EP400	12	132522263	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1045329	132522263	1329632	342	92237											
IFT88	8100	broad.mit.edu	37	chr13	21205180	21205180	+	Frame_Shift_Del	DEL	A	A	-																															agagatcttaaaagtgttggAaaaaaaggacagtagagtga																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:21205180delA	ENST00000382778.4	+	17	2470	c.1352delA	c.(1351-1353)gafs	p.E451fs	IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs|IFT88_ENST00000319980.6_Frame_Shift_Del_p.E451fs			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	451					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGTGTTGGAAAAAAAGGAC	0.363													101	39	---	---	---	---					-	21205180	A	-	21205180	7	5	479	1	0	1	0	1	0	0	0	0	7619	246	9	0	1414	0	IFT88	13	21205180	Frame_Shift_Del	DEL	A	TCGA-QK-A6VB-01A-12D-A34J-08		21205180	93964698	343	92238											
RNF17	56163	broad.mit.edu	37	chr13	25341481	25341481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgactgaagaatgcaccAcaattatatgccctgattgt	14	12	7	8	0	0	4	0	3	0	1	0	4	0	4	2	0	2	1	2	0	6	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:25341481A>G	ENST00000255324.5	+	2	254	c.202A>G	c.(202-204)Aca>Gca	p.T68A	RNF17_ENST00000381921.1_Missense_Mutation_p.T68A|RNF17_ENST00000255325.5_Missense_Mutation_p.T68A|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	68					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAATGCACCACAATTATATG	0.303													52	45					0	0	0	0	G	25341481	A	G	25341481	3	3	479	1	0	0	0	0	1	0	0	0	13546	159	6	5	208	5	RNF17	13	25341481	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	4136301	25341481	89828397	344	92239											
FRY	10129	broad.mit.edu	37	chr13	32808875	32808875	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagattggtggaggtgataGgagaacatggagatgagatt	14	9	16	2	0	0	5	0	2	0	4	0	9	0	6	0	5	1	0	0	5	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:32808875G>T	ENST00000380250.3	+	42	6188	c.5692G>T	c.(5692-5694)Gga>Tga	p.G1898*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		GGAGGTGATAGGAGAACATGG	0.488													3	34					2.56e-06	2.76888e-06	1	0	T	32808875	G	T	32808875	4	4	479	1	0	0	0	0	0	1	0	0	6111	1001	35	4	5858	4	FRY	13	32808875	Nonsense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7467394	32808875	82361003	345	92240											
KL	9365	broad.mit.edu	37	chr13	33628232	33628232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaacttttggaccctcAcatgaagttccgccaattgg	9	14	7	11	1	2	1	2	1	0	0	3	2	3	2	3	2	1	1	3	2	3	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:33628232A>G	ENST00000380099.3	+	2	1156	c.1148A>G	c.(1147-1149)cAc>cGc	p.H383R	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.H76R	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	383	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTGGACCCTCACATGAAGTTC	0.408													10	290					0	0	0	0	G	33628232	A	G	33628232	3	3	479	1	0	0	0	0	1	0	0	0	8383	159	6	5	1154	5	KL	13	33628232	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	819357	33628232	81541646	346	92241											
STARD13	90627	broad.mit.edu	37	chr13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-																															acgcggttcaggaccactgaGgggggtgcttccacctccac																								rs34251901	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)ccfs	p.P963fs	STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	17	---	---	---	---					-	33684168	G	-	33684168	7	5	479	1	0	1	0	1	0	0	0	0	15346	987	35	0	464	0	STARD13	13	33684168	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	55936	33684168	81485710	347	92242											
NBEA	26960	broad.mit.edu	37	chr13	35615073	35615073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctgtttactttcagctgGttggtggagaatttgacttg	6	19	11	5	0	2	2	1	1	1	1	2	3	2	2	0	3	2	3	0	3	2	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:35615073G>A	ENST00000540320.1	+	2	832	c.298G>A	c.(298-300)Gtt>Att	p.V100I	NBEA_ENST00000400445.3_Missense_Mutation_p.V100I|NBEA_ENST00000310336.4_Missense_Mutation_p.V100I|NBEA_ENST00000379939.2_Missense_Mutation_p.V100I			Q8NFP9	NBEA_HUMAN	neurobeachin	100						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTCAGCTGGTTGGTGGAGA	0.358													9	102					0	0	0	0	A	35615073	G	A	35615073	3	1	479	1	0	0	0	0	1	0	0	0	10257	1261	44	4	304	4	NBEA	13	35615073	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1930905	35615073	79554805	348	92243											
DNAJC15	29103	broad.mit.edu	37	chr13	43643069	43643069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccctttactatttaggtcGctacgcatttcggatctgga	7	16	8	10	3	1	0	0	0	1	0	4	2	2	2	1	3	2	2	1	3	4	8			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:43643069G>A	ENST00000379221.2	+	3	588	c.164G>A	c.(163-165)cGc>cAc	p.R55H	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	55						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TATTTAGGTCGCTACGCATTT	0.333													35	9					0	0	0	0	A	43643069	G	A	43643069	3	1	479	1	0	0	0	0	1	0	0	0	4670	1087	38	1	174	1	DNAJC15	13	43643069	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	8027996	43643069	71526809	349	92244											
NUFIP1	26747	broad.mit.edu	37	chr13	45563305	45563305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgtcgaaggggggttgCgccccgggaagaatctgggc	6	6	20	9	4	1	1	0	0	1	1	2	3	1	2	2	6	1	1	2	6	3	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:45563305C>T	ENST00000379161.4	-	1	313	c.267G>A	c.(265-267)gcG>gcA	p.A89A	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	89	Pro-rich.				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGGGGGGTTGCGCCCCGGGAA	0.642													18	26					0	0	0	0	T	45563305	C	T	45563305	2	4	479	1	0	0	0	0	0	0	0	1	10819	755	27	1		1	NUFIP1	13	45563305	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1920236	45563305	69606573	350	92245											
ZC3H13	23091	broad.mit.edu	37	chr13	46541882	46541882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatcagaaattagtctctCtctttccctatccaagtctc	11	14	4	12	0	4	2	1	0	3	2	9	2	6	2	2	0	0	0	2	0	5	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:46541882C>G	ENST00000242848.4	-	15	4426	c.4078G>C	c.(4078-4080)Gag>Cag	p.E1360Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1360Q|ZC3H13_ENST00000378921.2_Missense_Mutation_p.E316Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1360							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTAGtctctctctttcccta	0.443													26	2					0	0	0	0	G	46541882	C	G	46541882	3	3	479	1	0	0	0	0	1	0	0	0	17660	922	32	2	628	2	ZC3H13	13	46541882	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	978577	46541882	68627996	351	92246											
SUPT16H	11198	broad.mit.edu	37	chr14	21833045	21833045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttctcttctggcttttTcccctccttgttagtcaggt	2	20	8	11	0	3	0	1	0	2	0	6	0	5	0	3	3	0	3	3	3	1	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:21833045T>C	ENST00000216297.2	-	10	1512	c.1174A>G	c.(1174-1176)Aaa>Gaa	p.K392E		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	392					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTGGCTTTTTCCCCTCCTTG	0.428													16	55					0	0	0	0	C	21833045	T	C	21833045	3	2	479	1	0	0	0	0	1	0	0	0	15486	1792	62	5	2037	5	SUPT16H	14	21833045	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08		21833045	85516495	352	92247											
OR10G2	26534	broad.mit.edu	37	chr14	22102238	22102238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggggacatagtagactGtgaccacgattaggtgggag	12	8	15	6	1	0	2	0	1	0	1	0	5	0	4	1	4	1	1	1	4	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:22102238G>A	ENST00000542433.1	-	1	858	c.761C>T	c.(760-762)aCa>aTa	p.T254I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATAGTAGACTGTGACCACGAT	0.547													40	41					0	0	0	0	A	22102238	G	A	22102238	3	1	479	1	0	0	0	0	1	0	0	0	10970	1377	48	4	174	4	OR10G2	14	22102238	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	269193	22102238	85247302	353	92248											
PSME2	5721	broad.mit.edu	37	chr14	24614653	24614653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcccggagggaagtcaagtCagccacattgagggagtcct	10	6	15	10	1	2	1	2	1	0	0	3	4	3	4	3	4	1	0	3	4	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24614653C>G	ENST00000216802.5	-	4	805	c.166G>C	c.(166-168)Gac>Cac	p.D56H	PSME2_ENST00000560410.1_Missense_Mutation_p.D45H|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		GAAGTCAAGTCAGCCACATTG	0.577													17	77					0	0	0	0	G	24614653	C	G	24614653	3	3	479	1	0	0	0	0	1	0	0	0	12786	826	29	2	585	2	PSME2	14	24614653	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2512415	24614653	82734887	354	92249											
TINF2	26277	broad.mit.edu	37	chr14	24709778	24709778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgttcttccttgctctcaGgcttagatatgacctgggtt	6	16	9	10	0	2	2	1	1	2	1	4	2	3	2	2	2	1	4	2	2	2	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24709778G>T	ENST00000399423.4	-	6	1238	c.908C>A	c.(907-909)cCt>cAt	p.P303H	TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000538777.1_Missense_Mutation_p.P89H|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000267415.7_Missense_Mutation_p.P303H|TINF2_ENST00000540705.1_Missense_Mutation_p.P268H	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	303					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTTGCTCTCAGGCTTAGATAT	0.557									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				8	94					0.000157383	0.000166744	1	0	T	24709778	G	T	24709778	3	4	479	1	0	0	0	0	1	0	0	0	16017	1000	35	4	467	4	TINF2	14	24709778	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	95125	24709778	82639762	355	92250											
NFATC4	4776	broad.mit.edu	37	chr14	24836273	24836273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaaatgataaccaccCtcccatctctcctacccgcc	11	7	6	17	1	1	2	0	1	1	1	4	3	3	2	6	1	2	0	6	1	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24836273C>T	ENST00000413692.2	+	1	157	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F	NFATC4_ENST00000440487.2_Intron|NFATC4_ENST00000554591.1_Missense_Mutation_p.L5F	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	0					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GATAACCACCCTCCCATCTCT	0.572													9	109					0	0	0	0	T	24836273	C	T	24836273	3	4	479	1	0	0	0	0	1	0	0	0	10435	681	24	4	15	4	NFATC4	14	24836273	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	126495	24836273	82513267	356	92251											
HEATR5A	25938	broad.mit.edu	37	chr14	31828251	31828251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccagctctctgaggataGcacagaggtttcctgttgag	9	10	12	10	0	1	3	0	2	1	1	3	4	2	4	2	2	3	4	2	2	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:31828251G>A	ENST00000543095.2	-	15	2268	c.2084C>T	c.(2083-2085)gCt>gTt	p.A695V	HEATR5A_ENST00000404677.3_Missense_Mutation_p.A695V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A402V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A689V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A689V	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	689							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCTGAGGATAGCACAGAGGTT	0.428													21	94					0	0	0	0	A	31828251	G	A	31828251	3	1	479	1	0	0	0	0	1	0	0	0	7081	971	34	4	4144	4	HEATR5A	14	31828251	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	6991978	31828251	75521289	357	92252											
ATL1	51062	broad.mit.edu	37	chr14	51081185	51081185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttctgctacctcatcctgGcttaaaagtagctaccaatc	10	14	5	12	0	2	0	1	0	1	0	4	0	3	0	3	1	4	4	3	1	6	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:51081185G>A	ENST00000441560.2	+	9	1299	c.818G>A	c.(817-819)gGc>gAc	p.G273D	ATL1_ENST00000357032.3_Missense_Mutation_p.G273D|ATL1_ENST00000358385.6_Missense_Mutation_p.G273D|ATL1_ENST00000354525.4_Missense_Mutation_p.G273D	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	273					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCTCATCCTGGCTTAAAAGTA	0.378													4	71					0	0	0	0	A	51081185	G	A	51081185	3	1	479	1	0	0	0	0	1	0	0	0	1110	1203	42	4	848	4	ATL1	14	51081185	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	19252934	51081185	56268355	358	92253											
JKAMP	51528	broad.mit.edu	37	chr14	59967980	59967980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtacatgtctgcttctgaaAtagaggtaggaagtcttttt	10	16	10	5	0	3	2	0	1	3	1	3	3	3	3	0	2	2	3	0	2	5	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:59967980A>G	ENST00000554271.1	+	6	1280	c.754A>G	c.(754-756)Ata>Gta	p.I252V	JKAMP_ENST00000425728.2_Missense_Mutation_p.I232V|JKAMP_ENST00000261247.9_Missense_Mutation_p.I238V|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Missense_Mutation_p.I246V			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	253					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCTTCTGAAATAGAGGTAGG	0.313													27	35					0	0	0	0	G	59967980	A	G	59967980	3	3	479	1	0	0	0	0	1	0	0	0	8002	101	4	5	734	5	JKAMP	14	59967980	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	8886795	59967980	47381560	359	92254											
MTHFD1	4522	broad.mit.edu	37	chr14	64898311	64898311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctaataacctcgttgctgCggccattgatgctcggatat	9	12	10	10	3	0	1	0	1	0	0	2	2	0	2	2	2	5	4	2	2	3	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:64898311C>T	ENST00000555709.1	+	14	1760	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V	MTHFD1_ENST00000216605.7_Missense_Mutation_p.A514V|MTHFD1_ENST00000555252.1_Missense_Mutation_p.A438V|MTHFD1_ENST00000545908.1_Missense_Mutation_p.A514V|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	458	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTCGTTGCTGCGGCCATTGAT	0.468													30	94					0	0	0	0	T	64898311	C	T	64898311	3	4	479	1	0	0	0	0	1	0	0	0	9997	768	27	1	1427	1	MTHFD1	14	64898311	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4930331	64898311	42451229	360	92255											
MAP3K9	4293	broad.mit.edu	37	chr14	71197533	71197533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacattggggtcagggagaCgggggaattcacctgggtct	8	8	16	9	1	3	1	2	0	1	1	3	3	3	2	2	6	0	0	2	6	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:71197533C>T	ENST00000554752.2	-	12	2878	c.2879G>A	c.(2878-2880)cGt>cAt	p.R960H	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R974H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R693H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R688H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R937H			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	960	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTCAGGGAGACGGGGGAATTC	0.552													16	15					0	0	0	0	T	71197533	C	T	71197533	3	4	479	1	0	0	0	0	1	0	0	0	9326	536	19	1	439	1	MAP3K9	14	71197533	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	6299222	71197533	36152007	361	92256											
DCAF4	26094	broad.mit.edu	37	chr14	73408516	73408516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgggttttctcaacGtcaccaattactgccagtaa	10	11	8	12	1	2	0	2	0	1	0	3	0	2	0	3	1	4	3	3	1	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:73408516G>A	ENST00000553457.1	+	4	405	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Missense_Mutation_p.V39I|DCAF4_ENST00000358377.2_Missense_Mutation_p.V139I|DCAF4_ENST00000555042.1_Missense_Mutation_p.V139I			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	139						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TTTTCTCAACGTCACCAATTA	0.358													33	184					0	0	0	0	A	73408516	G	A	73408516	3	1	479	1	0	0	0	0	1	0	0	0	4303	1145	40	1	429	1	DCAF4	14	73408516	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2210983	73408516	33941024	362	92257											
ALDH6A1	4329	broad.mit.edu	37	chr14	74535660	74535660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgattgctttgatgtccGgatgatcgcaaataaaattt	12	14	9	6	2	0	3	0	3	0	0	2	4	1	4	1	1	2	3	1	1	3	4	rs139579994	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:74535660G>T	ENST00000553458.1	-	7	853	c.755C>A	c.(754-756)cCg>cAg	p.P252Q	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.P239Q|ALDH6A1_ENST00000555126.1_5'UTR|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	252						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TTTGATGTCCGGATGATCGCA	0.418													4	70					0.00909568	0.0092416	1	0	T	74535660	G	T	74535660	3	4	479	1	0	0	0	0	1	0	0	0	503	1116	39	3	876	3	ALDH6A1	14	74535660	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1127144	74535660	32813880	363	92258											
YLPM1	56252	broad.mit.edu	37	chr14	75266069	75266069	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggagagaagaaagaaatCgagagcatgggtatgatcga	17	6	15	3	2	0	5	0	1	0	4	2	10	0	6	0	2	1	2	0	2	4	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:75266069C>T	ENST00000325680.7	+	5	4193	c.4069C>T	c.(4069-4071)Cga>Tga	p.R1357*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1162*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.R1357*(1)|p.R1162*(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAAAGAAATCGAGAGCATGG	0.473													18	186					0	0	0	0	T	75266069	C	T	75266069	4	4	479	1	0	0	0	0	0	1	0	0	17582	876	31	1	4087	1	YLPM1	14	75266069	Nonsense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	730409	75266069	32083471	364	92259											
ADCK1	57143	broad.mit.edu	37	chr14	78325515	78325515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggggctctggactacCtgttgccagaggagtacacc	8	8	13	12	0	1	1	0	0	1	1	1	3	1	3	4	4	3	3	4	4	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:78325515C>A	ENST00000238561.5	+	4	415	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	113						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCTGGACTACCTGTTGCCAGA	0.617													22	128					3.62473e-10	4.11573e-10	1	0	A	78325515	C	A	78325515	3	1	479	1	0	0	0	0	1	0	0	0	288	680	24	4	326	4	ADCK1	14	78325515	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3059446	78325515	29024025	365	92260											
LGMN	5641	broad.mit.edu	37	chr14	93185102	93185102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccacttactcttcagagtAagcaatgtcatcgtacatca	12	11	5	13	1	4	1	3	0	1	1	5	1	4	1	2	0	3	3	2	0	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:93185102A>G	ENST00000393218.2	-	4	563	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	LGMN_ENST00000557434.1_Missense_Mutation_p.Y76H|LGMN_ENST00000334869.4_Missense_Mutation_p.Y76H|LGMN_ENST00000555699.1_Missense_Mutation_p.Y76H	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	76					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCTTCAGAGTAAGCAATGTCA	0.473													32	158					0	0	0	0	G	93185102	A	G	93185102	3	3	479	1	0	0	0	0	1	0	0	0	8809	362	13	5	1123	5	LGMN	14	93185102	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	14859587	93185102	14164438	366	92261											
AHNAK2	113146	broad.mit.edu	37	chr14	105411586	105411586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaggtccactttgggcAtcttgaaactgggcatctcc	7	13	10	11	0	3	2	0	2	3	0	5	2	4	2	2	3	1	2	2	3	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:105411586A>G	ENST00000333244.5	-	7	10321	c.10202T>C	c.(10201-10203)aTg>aCg	p.M3401T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3401						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACTTTGGGCATCTTGAAACT	0.627													216	333					0	0	0	0	G	105411586	A	G	105411586	3	3	479	1	0	0	0	0	1	0	0	0	415	217	8	5	7189	5	AHNAK2	14	105411586	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	12226484	105411586	1937954	367	92262											
HERC2	8924	broad.mit.edu	37	chr15	28447555	28447555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcaaactcgatgttcCttctggaaaatcccatctcc	10	11	7	13	1	3	0	1	0	2	0	7	2	5	1	3	2	1	2	3	2	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:28447555C>A	ENST00000261609.7	-	46	7526	c.7418G>T	c.(7417-7419)aGg>aTg	p.R2473M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2473					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCGATGTTCCTTCTGGAAAA	0.572													11	12					6.40141e-05	6.84579e-05	1	0	A	28447555	C	A	28447555	3	1	479	1	0	0	0	0	1	0	0	0	7108	681	24	4	7278	4	HERC2	15	28447555	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08		28447555	74083837	368	92263											
OTUD7A	161725	broad.mit.edu	37	chr15	31776656	31776656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttggcgcggcccatcttgCcgtgcaccaggccgccgagg	5	6	15	15	5	1	0	0	0	1	0	1	1	1	0	5	4	2	2	5	4	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:31776656C>T	ENST00000382902.1	-	11	1735	c.1643G>A	c.(1642-1644)gGc>gAc	p.G548D	OTUD7A_ENST00000307050.4_Missense_Mutation_p.G541D			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	541						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCCCATCTTGCCGTGCACCAG	0.657													12	51					0	0	0	0	T	31776656	C	T	31776656	3	4	479	1	0	0	0	0	1	0	0	0	11389	739	26	4	1162	4	OTUD7A	15	31776656	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3329101	31776656	70754736	369	92264											
IVD	3712	broad.mit.edu	37	chr15	40698035	40698035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcatggcagagatggcgActgcgactcggctgctgggg	6	7	18	10	4	0	1	0	0	0	1	1	4	0	1	0	5	3	4	0	5	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:40698035A>G	ENST00000249760.2	+	1	350	c.7A>G	c.(7-9)Act>Gct	p.T3A	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000479013.2_Missense_Mutation_p.T6A|IVD_ENST00000487418.2_Missense_Mutation_p.T6A	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	3					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		AGAGATGGCGACTGCGACTCG	0.672													15	47					0	0	0	0	G	40698035	A	G	40698035	3	3	479	1	0	0	0	0	1	0	0	0	7981	275	10	5	18	5	IVD	15	40698035	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	8921379	40698035	61833357	370	92265											
SERF2	10169	broad.mit.edu	37	chr15	44085881	44085881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttgccctctggtacctcCcagtgccccatcatctctac	5	14	5	17	0	3	0	1	0	2	0	5	0	4	0	5	1	4	1	5	1	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:44085881C>A	ENST00000409960.2	+	3	271	c.224C>A	c.(223-225)cCc>cAc	p.P75H	SERF2_ENST00000409614.1_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000402131.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000381359.1_Intron|SERF2_ENST00000249786.4_Intron|SERF2_ENST00000339624.5_Intron|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000403425.1_Intron	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus		p.P75H(1)		lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGGTACCTCCCAGTGCCCCA	0.522													26	57					1.42536e-11	1.64464e-11	1	0	A	44085881	C	A	44085881	3	1	479	1	0	0	0	0	1	0	0	0	14163	638	22	4		4	SERF2	15	44085881	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3387846	44085881	58445511	371	92266											
SPG11	80208	broad.mit.edu	37	chr15	44907702	44907702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtattacacctccaataCggctcagtcttaggaggaag	11	10	9	11	1	2	0	1	0	1	0	3	2	3	2	3	3	2	2	3	3	6	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:44907702C>T	ENST00000261866.7	-	16	2913	c.2897G>A	c.(2896-2898)cGt>cAt	p.R966H	SPG11_ENST00000558319.1_Missense_Mutation_p.R966H|SPG11_ENST00000427534.2_Missense_Mutation_p.R966H|SPG11_ENST00000535302.2_Missense_Mutation_p.R966H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	966					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTCCAATACGGCTCAGTCT	0.403													21	83					0	0	0	0	T	44907702	C	T	44907702	3	4	479	1	0	0	0	0	1	0	0	0	15131	536	19	1	4534	1	SPG11	15	44907702	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	821821	44907702	57623690	372	92267											
VPS13C	54832	broad.mit.edu	37	chr15	62209646	62209646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccccatgtgtacatatgTagctcaattcatcaggcaga	11	12	7	11	0	3	1	3	0	0	1	4	1	4	1	2	1	2	4	2	1	4	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:62209646T>C	ENST00000261517.5	-	60	8022	c.7949A>G	c.(7948-7950)tAc>tGc	p.Y2650C	VPS13C_ENST00000395896.4_Missense_Mutation_p.Y2650C|VPS13C_ENST00000395898.3_Missense_Mutation_p.Y2607C|VPS13C_ENST00000249837.3_Missense_Mutation_p.Y2607C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2650					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTACATATGTAGCTCAATTC	0.418													18	61					0	0	0	0	C	62209646	T	C	62209646	3	2	479	1	0	0	0	0	1	0	0	0	17287	1638	57	5	3444	5	VPS13C	15	62209646	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	17301944	62209646	40321746	373	92268											
ANKDD1A	348094	broad.mit.edu	37	chr15	65226380	65226380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagccctcagtggctcggaGgatgtgtctcgggtcctcat	5	10	14	12	2	3	0	2	0	1	0	6	2	4	2	2	4	1	2	2	4	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:65226380G>T	ENST00000380230.3	+	9	842	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E271D|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E180D|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E271D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	271					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GTGGCTCGGAGGATGTGTCTC	0.527													12	56					8.60227e-14	1.00891e-13	1	0	T	65226380	G	T	65226380	3	4	479	1	0	0	0	0	1	0	0	0	624	991	35	4	847	4	ANKDD1A	15	65226380	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3016734	65226380	37305012	374	92269											
CCDC33	80125	broad.mit.edu	37	chr15	74560687	74560687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccctgtctccagcccaCtgagtctgggaaagccgatg	9	7	10	15	1	2	1	0	1	2	0	3	3	2	2	5	1	3	0	5	1	2	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:74560687C>T	ENST00000321288.5	+	7	1043	c.1043C>T	c.(1042-1044)aCt>aTt	p.T348I	CCDC33_ENST00000398814.3_Missense_Mutation_p.T145I			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	348							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCCAGCCCACTGAGTCTGGG	0.562													18	32					0	0	0	0	T	74560687	C	T	74560687	3	4	479	1	0	0	0	0	1	0	0	0	2832	565	20	4	452	4	CCDC33	15	74560687	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	9334307	74560687	27970705	375	92270											
MPI	4351	broad.mit.edu	37	chr15	75185033	75185033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgcacctccaggctcCgcagcactaccccgatgcca	9	5	9	18	2	0	0	0	0	0	0	2	2	2	0	6	1	5	5	6	1	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:75185033C>T	ENST00000352410.4	+	4	444	c.377C>T	c.(376-378)cCg>cTg	p.P126L	MPI_ENST00000323744.6_Missense_Mutation_p.P126L|MPI_ENST00000566377.1_Missense_Mutation_p.P126L|MPI_ENST00000565576.1_Missense_Mutation_p.P126L|MPI_ENST00000564003.1_Missense_Mutation_p.P76L|MPI_ENST00000563786.1_Missense_Mutation_p.P106L|MPI_ENST00000562606.1_Missense_Mutation_p.P106L|MPI_ENST00000535694.1_Missense_Mutation_p.P76L|MPI_ENST00000563422.1_Missense_Mutation_p.P126L			P34949	MPI_HUMAN	mannose phosphate isomerase	126					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTCCAGGCTCCGCAGCACTAC	0.612													36	30					0	0	0	0	T	75185033	C	T	75185033	3	4	479	1	0	0	0	0	1	0	0	0	9799	652	23	1	391	1	MPI	15	75185033	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	624346	75185033	27346359	376	92271											
IDH3A	3419	broad.mit.edu	37	chr15	78453976	78453976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctatgaatttactgctgCgcaaaacatttgacctttac	12	14	5	10	1	1	2	0	2	1	0	1	2	1	2	1	0	5	2	1	0	6	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:78453976C>T	ENST00000299518.2	+	5	426	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.R6C	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	115					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	TTTACTGCTGCGCAAAACATT	0.443													36	95					0	0	0	0	T	78453976	C	T	78453976	3	4	479	1	0	0	0	0	1	0	0	0	7549	768	27	1	361	1	IDH3A	15	78453976	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3268943	78453976	24077416	377	92272											
MESDC1	59274	broad.mit.edu	37	chr15	81295526	81295526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgctcctgacccagtGcctcagggatctggcgcagc	5	8	13	15	2	2	1	1	1	1	0	3	2	3	2	3	2	4	2	3	2	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:81295526G>A	ENST00000267984.2	+	1	2232	c.914G>A	c.(913-915)tGc>tAc	p.C305Y		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	305										endometrium(1)|lung(2)	3						CTGACCCAGTGCCTCAGGGAT	0.711													6	9					0	0	0	0	A	81295526	G	A	81295526	3	1	479	1	0	0	0	0	1	0	0	0	9549	1319	46	4	916	4	MESDC1	15	81295526	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2841550	81295526	21235866	378	92273											
IL16	3603	broad.mit.edu	37	chr15	81578132	81578132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcactgtgatcccggTccagtccccatcattgttag	7	12	9	13	1	2	2	2	2	0	0	5	2	5	2	4	1	0	1	4	1	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:81578132T>C	ENST00000394660.2	+	10	1653	c.1293T>C	c.(1291-1293)ggT>ggC	p.G431G	IL16_ENST00000302987.4_Silent_p.G431G	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	431	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGATCCCGGTCCAGTCCCCA	0.517													15	110					0	0	0	0	C	81578132	T	C	81578132	2	2	479	1	0	0	0	0	0	0	0	1	7686	1654	58	5		5	IL16	15	81578132	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	282606	81578132	20953260	379	92274											
FAM154B	283726	broad.mit.edu	37	chr15	82564107	82564107	+	Frame_Shift_Del	DEL	A	A	-																															ggcctttggagagacaagttAaaaaaggaaaattggacact																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:82564107delA	ENST00000339465.5	+	2	286	c.217delA	c.(217-219)aafs	p.K74fs	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Frame_Shift_Del_p.K59fs|FAM154B_ENST00000565432.1_Frame_Shift_Del_p.K87fs	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	74										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAGACAAGTTAAAAAAGGAAA	0.393													21	73	---	---	---	---					-	82564107	A	-	82564107	7	5	479	1	0	1	0	1	0	0	0	0	5505	363	13	0	223	0	FAM154B	15	82564107	Frame_Shift_Del	DEL	A	TCGA-QK-A6VB-01A-12D-A34J-08	985975	82564107	19967285	380	92275											
ACAN	176	broad.mit.edu	37	chr15	89381922	89381922	+	Frame_Shift_Del	DEL	C	C	-																															aactcgctgagtgtcagcatCccccaaccgtccccgctgag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:89381922delC	ENST00000439576.2	+	3	473	c.99delC	c.(97-99)atfs	p.I33fs	ACAN_ENST00000558207.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000559004.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000561243.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000352105.7_Frame_Shift_Del_p.I33fs	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	33					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGTCAGCATCCCCCAACCGT	0.617													22	96	---	---	---	---					-	89381922	C	-	89381922	7	5	479	1	0	1	0	1	0	0	0	0	117	845	30	0	105	0	ACAN	15	89381922	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	6817815	89381922	13149470	381	92276											
POLG	5428	broad.mit.edu	37	chr15	89872299	89872299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcttagccctgagatggCcatgtgcatgctcatggtgt	6	12	13	10	0	1	1	1	1	0	1	1	2	1	1	2	2	4	4	2	2	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:89872299C>T	ENST00000268124.5	-	4	1231	c.898G>A	c.(898-900)Gcc>Acc	p.A300T	POLG_ENST00000442287.2_Missense_Mutation_p.A300T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	300					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			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)			CCTGAGATGGCCATGTGCATG	0.597								DNA polymerases (catalytic subunits)					10	33					0	0	0	0	T	89872299	C	T	89872299	3	4	479	1	0	0	0	0	1	0	0	0	12272	739	26	4	2901	4	POLG	15	89872299	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	490377	89872299	12659093	382	92277											
IDH2	3418	broad.mit.edu	37	chr15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcccccccaggatgttcCggatagttccattgggactt	7	11	10	13	1	0	0	0	0	0	0	3	3	3	3	5	3	0	2	5	3	1	5	rs121913502		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding (By similarity).		R -> G (in D2HGA2).|R -> Q (in D2HGA2).		2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537			M		GBM								23	62					0	0	0	0	T	90631934	C	T	90631934	3	4	479	1	0	0	0	0	1	0	0	0	7548	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	759635	90631934	11899458	383	92278											
UNC45A	55898	broad.mit.edu	37	chr15	91479199	91479200	+	Frame_Shift_Del	DEL	AG	AG	-																															gattacgacaaagcagaaacAgaggcatccaaaggtagggg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:91479199_91479200delAG	ENST00000394275.2	+	6	1027_1028	c.192_193delAG	c.(190-195)acagfs	p.TE64fs	UNC45A_ENST00000418476.2_Frame_Shift_Del_p.TE79fs|UNC45A_ENST00000553671.2_3'UTR	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	79					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AAGCAGAAACAGAGGCATCCAA	0.564													32	38	---	---	---	---					-	91479200	AG	-	91479199	7	5	479	1	0	1	0	1	0	0	0	0	17084	175	7	0	247	0	UNC45A	15	91479199	Frame_Shift_Del	DEL	AG	TCGA-QK-A6VB-01A-12D-A34J-08	847265	91479199	11052193	384	92279											
SLCO3A1	28232	broad.mit.edu	37	chr15	92706187	92706187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtgcctgaggaaaaactAtaaacgctacatcaaaaacc	18	6	7	10	1	1	1	1	1	0	0	1	2	1	2	2	1	5	2	2	1	8	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:92706187A>G	ENST00000318445.6	+	10	2169	c.1955A>G	c.(1954-1956)tAt>tGt	p.Y652C	RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.Y652C|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	652					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AGGAAAAACTATAAACGCTAC	0.542													32	39					0	0	0	0	G	92706187	A	G	92706187	3	3	479	1	0	0	0	0	1	0	0	0	14816	449	16	5	1993	5	SLCO3A1	15	92706187	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	1226988	92706187	9825205	385	92280											
LRRK1	79705	broad.mit.edu	37	chr15	101586254	101586254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtatgcggcaccccacagCcaacaccattcagagggtat	11	6	10	14	2	1	1	1	0	0	1	1	1	1	1	4	3	3	3	4	3	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:101586254C>T	ENST00000284395.5	+	22	3423	c.3023C>T	c.(3022-3024)gCc>gTc	p.A1008V	LRRK1_ENST00000388948.3_Missense_Mutation_p.A1011V|RP11-505E24.3_ENST00000558979.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1011					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCCCACAGCCAACACCATT	0.552													7	94					0	0	0	0	T	101586254	C	T	101586254	3	4	479	1	0	0	0	0	1	0	0	0	9096	739	26	4	3110	4	LRRK1	15	101586254	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	8880067	101586254	945138	386	92281											
C16orf91	283951	broad.mit.edu	37	chr16	1478413	1478413	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggtctcatttcctcacCcttggcgtccaggacagtga	6	11	11	13	1	2	1	2	1	1	0	5	2	4	2	3	3	0	1	3	3	0	2	rs141111870	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:1478413C>T	ENST00000310355.1	-	2	237	c.238_splice	c.e2+1	p.A80_splice				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATTTCCTCACCCTTGGCGTCC	0.697													5	28					0	0	0	0	T	1478413	C	T	1478413	5	4	479	1	0	0	0	0	0	0	1	0	1857	637	22	4	846	4	C16orf91	16	1478413	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08		1478413	88876340	387	92282											
TELO2	9894	broad.mit.edu	37	chr16	1559928	1559928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggctcctcccacccgcGtctccctagtccctggaggc	6	7	9	19	2	1	0	0	0	1	0	5	1	4	1	5	3	1	1	5	3	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:1559928G>A	ENST00000262319.6	+	21	2784	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	835						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCCCACCCGCGTCTCCCTAGT	0.662													5	4					0	0	0	0	A	1559928	G	A	1559928	2	1	479	1	0	0	0	0	0	0	0	1	15851	1132	40	1		1	TELO2	16	1559928	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	81515	1559928	88794825	388	92283											
CASKIN1	57524	broad.mit.edu	37	chr16	2231476	2231476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggcgggggcggcgactcGatggccatcacttcaagaga	9	6	15	11	4	3	1	3	0	0	1	4	4	3	1	1	5	0	0	1	5	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2231476G>A	ENST00000343516.6	-	18	1985	c.1893C>T	c.(1891-1893)atC>atT	p.I631I		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	631					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCGGCGACTCGATGGCCATCA	0.647													14	20					0	0	0	0	A	2231476	G	A	2231476	2	1	479	1	0	0	0	0	0	0	0	1	2691	1048	37	1		1	CASKIN1	16	2231476	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	671548	2231476	88123277	389	92284											
MLST8	64223	broad.mit.edu	37	chr16	2258661	2258661	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcccccggcgctggcCtccagagccagcccacctcg	4	4	11	22	3	0	1	0	0	0	1	2	1	1	1	8	3	2	1	8	3	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2258661C>A	ENST00000301724.10	+	8	983	c.909C>A	c.(907-909)gcC>gcA	p.A303A	MLST8_ENST00000569417.1_Intron|MLST8_ENST00000382450.4_Intron|MLST8_ENST00000565250.1_Intron|MLST8_ENST00000564088.1_Intron|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000397124.1_Intron			Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	0					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CGGCGCTGGCCTCCAGAGCCA	0.711													8	100					1.12685e-05	1.21419e-05	1	0	A	2258661	C	A	2258661	2	1	479	1	0	0	0	0	0	0	0	1	9703	696	24	4		4	MLST8	16	2258661	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	27185	2258661	88096092	390	92285											
TCEB2	6923	broad.mit.edu	37	chr16	2821598	2821598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcgtctgggagtggaCatgcaggctatgggggtggg	6	8	20	7	1	1	0	0	0	1	0	2	2	1	2	1	7	1	2	1	7	1	1	rs79638577		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2821598C>T	ENST00000262306.7	-	5	398	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	TCEB2_ENST00000409906.4_3'UTR|TCEB2_ENST00000409477.1_3'UTR	NM_207013.2	NP_996896.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	0					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|prostate(1)	3						TGGGAGTGGACATGCAGGCTA	0.557													4	131					0	0	0	0	T	2821598	C	T	2821598	3	4	479	1	0	0	0	0	1	0	0	0	15774	478	17	4	128	4	TCEB2	16	2821598	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	562937	2821598	87533155	391	92286											
ALG1	56052	broad.mit.edu	37	chr16	5125391	5125391	+	Frame_Shift_Del	DEL	C	C	-																															agtctctatctttcctagaaCcccccaggtctgcctagcat																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:5125391delC	ENST00000588623.1	+	5	1160	c.60delC	c.(58-60)aafs	p.N20fs	ALG1_ENST00000544428.1_Frame_Shift_Del_p.N20fs|ALG1_ENST00000262374.5_Frame_Shift_Del_p.N131fs			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	131					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TTTCCTAGAACCCCCCAGGTC	0.493													33	264	---	---	---	---					-	5125391	C	-	5125391	7	5	479	1	0	1	0	1	0	0	0	0	510	506	18	0	407	0	ALG1	16	5125391	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	2303793	5125391	85229362	392	92287											
FAM86A	196483	broad.mit.edu	37	chr16	5140283	5140283	+	Frame_Shift_Del	DEL	G	G	-																															gtcgctgaagatgtatgcccGggggcggcacatcttgcaga																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:5140283delG	ENST00000427587.4	-	6	612	c.544delC	c.(544-546)ggfs	p.R182fs	FAM86A_ENST00000587133.1_Frame_Shift_Del_p.R121fs|FAM86A_ENST00000458008.4_Frame_Shift_Del_p.R148fs	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	182										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						ATGTATGCCCGGGGGCGGCAC	0.602													7	107	---	---	---	---					-	5140283	G	-	5140283	7	5	479	1	0	1	0	1	0	0	0	0	5689	1115	39	0	460	0	FAM86A	16	5140283	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	14892	5140283	85214470	393	92288											
PMM2	5373	broad.mit.edu	37	chr16	8900255	8900255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcgaaaattaaactccCgaagaagaggtgggtttgct	13	10	11	7	2	0	2	0	0	0	2	1	4	1	2	1	2	3	2	1	2	6	3	rs80338700		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:8900255C>T	ENST00000268261.4	+	4	404	c.338C>T	c.(337-339)cCg>cTg	p.P113L	PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86L|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000539622.1_Missense_Mutation_p.P30L	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403													48	65					0	0	0	0	T	8900255	C	T	8900255	3	4	479	1	0	0	0	0	1	0	0	0	12209	652	23	1	352	1	PMM2	16	8900255	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	3759972	8900255	81454498	394	92289											
MKL2	57496	broad.mit.edu	37	chr16	14341240	14341240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagggacagccaccgcCtgctgttgttgctcagcccc	5	9	10	17	1	1	0	1	0	0	0	2	1	2	1	6	1	4	4	6	1	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:14341240C>T	ENST00000571589.1	+	12	2295	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	MKL2_ENST00000341243.5_Missense_Mutation_p.P697L|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	697	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCCACCGCCTGCTGTTGTT	0.572													12	71					0	0	0	0	T	14341240	C	T	14341240	3	4	479	1	0	0	0	0	1	0	0	0	9671	696	24	4		4	MKL2	16	14341240	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5440985	14341240	76013513	395	92290											
DNAH3	55567	broad.mit.edu	37	chr16	20981271	20981271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagcagctagtgcagcctcGagtgcaggcattgcctcagc	9	7	13	12	1	1	1	1	0	0	1	2	2	1	1	2	1	7	5	2	1	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:20981271G>A	ENST00000261383.3	-	52	8300	c.8301C>T	c.(8299-8301)ctC>ctT	p.L2767L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2767	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGCAGCCTCGAGTGCAGGCA	0.607													24	99					0	0	0	0	A	20981271	G	A	20981271	2	1	479	1	0	0	0	0	0	0	0	1	4640	1045	37	1		1	DNAH3	16	20981271	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	6640031	20981271	69373482	396	92291											
PALB2	79728	broad.mit.edu	37	chr16	23647099	23647099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggtgctgactactaccGctatctgatagagtctgtaa	11	12	9	9	1	3	3	1	2	2	1	3	3	3	3	1	1	3	3	1	1	6	5	rs45487491		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:23647099G>A	ENST00000261584.4	-	4	920	c.768C>T	c.(766-768)agC>agT	p.S256S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	256	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GACTACTACCGCTATCTGATA	0.418			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					56	228					0	0	0	0	A	23647099	G	A	23647099	2	1	479	1	0	0	0	0	0	0	0	1	11477	1078	38	1		1	PALB2	16	23647099	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2665828	23647099	66707654	397	92292											
IL21R	50615	broad.mit.edu	37	chr16	27454418	27454418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgcagtacaggaaccGgggagacccctgggctgtgg	8	6	17	10	1	0	2	0	1	0	1	0	4	0	3	3	5	4	4	3	5	2	1	rs148782015		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:27454418G>C	ENST00000337929.3	+	5	961	c.488G>C	c.(487-489)cGg>cCg	p.R163P	IL21R_ENST00000564089.1_Missense_Mutation_p.R163P|IL21R_ENST00000395755.1_Missense_Mutation_p.R163P|IL21R_ENST00000395754.4_Missense_Mutation_p.R163P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	163	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TACAGGAACCGGGGAGACCCC	0.557			T	BCL6	NHL								8	70					0	0	0	0	C	27454418	G	C	27454418	3	2	479	1	0	0	0	0	1	0	0	0	7724	1116	39	3	502	3	IL21R	16	27454418	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3807319	27454418	62900335	398	92293											
ATXN2L	11273	broad.mit.edu	37	chr16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-																															tgcacccaccccagagtcatGgggggcccccccaaggcgcg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:28847350delG	ENST00000336783.4	+	22	3159	c.2992delG	c.(2992-2994)ggfs	p.G999fs	ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1005fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G999fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G999fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	999						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAGAGTCATGGGGGGCCCCC	0.682													10	118	---	---	---	---					-	28847350	G	-	28847350	7	5	479	1	0	1	0	1	0	0	0	0	1216	1348	47	0	3078	0	ATXN2L	16	28847350	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	1392932	28847350	61507403	399	92294											
MAZ	4150	broad.mit.edu	37	chr16	29821459	29821459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcggcagcagcggcAgcagtagcagcccctcccac	8	2	14	17	3	0	0	0	0	0	0	1	0	1	0	3	3	6	7	3	3	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:29821459A>G	ENST00000563402.1	+	3	441	c.310A>G	c.(310-312)Agc>Ggc	p.S104G	MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000562337.1_Silent_p.A142A|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000568544.1_Silent_p.A48A|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Missense_Mutation_p.S102G|MAZ_ENST00000545521.1_Silent_p.A424A|MAZ_ENST00000322945.6_Silent_p.A447A|AC009133.20_ENST00000569039.1_RNA			P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	104	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						cagcagcggcagcagtagcag	0.667													5	32					0	0	0	0	G	29821459	A	G	29821459	3	3	479	1	0	0	0	0	1	0	0	0	9409	175	7	5	1566	5	MAZ	16	29821459	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	974109	29821459	60533294	400	92295											
HIRIP3	8479	broad.mit.edu	37	chr16	30005313	30005313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcttcttggaagagcGgttcttcctctccccctggg	4	12	12	13	1	4	1	0	0	4	1	6	3	5	3	3	4	2	2	3	4	1	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30005313G>T	ENST00000279392.3	-	4	1983	c.1153C>A	c.(1153-1155)Cgc>Agc	p.R385S	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	385					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TTGGAAGAGCGGTTCTTCCTC	0.602													16	50					1.52009e-12	1.77189e-12	1	0	T	30005313	G	T	30005313	3	4	479	1	0	0	0	0	1	0	0	0	7171	1116	39	3	533	3	HIRIP3	16	30005313	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	183854	30005313	60349440	401	92296											
SRCAP	10847	broad.mit.edu	37	chr16	30723592	30723592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctctgacaggtaaagacgCccattcccctgcttctgcgg	7	10	9	15	2	2	2	0	1	2	1	4	2	3	2	3	2	2	2	3	2	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30723592C>T	ENST00000262518.4	+	13	2210	c.1825C>T	c.(1825-1827)Ccc>Tcc	p.P609S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P609S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P609S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	609					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGTAAAGACGCCCATTCCCCT	0.498													9	156					0	0	0	0	T	30723592	C	T	30723592	3	4	479	1	0	0	0	0	1	0	0	0	15225	739	26	4	1867	4	SRCAP	16	30723592	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	718279	30723592	59631161	402	92297											
SETD1A	9739	broad.mit.edu	37	chr16	30978857	30978857	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcggaaatttccgaggcCagtgaggaaaagaggcctcg	12	6	13	10	3	0	2	0	1	0	1	3	5	1	4	4	4	0	0	4	4	3	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30978857C>A	ENST00000262519.8	+	10	3404	c.2718C>A	c.(2716-2718)gcC>gcA	p.A906A		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	906	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTTCCGAGGCCAGTGAGGAAA	0.572													59	237					1.31171e-36	1.63963e-36	1	0	A	30978857	C	A	30978857	2	1	479	1	0	0	0	0	0	0	0	1	14217	581	21	4		4	SETD1A	16	30978857	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	255265	30978857	59375896	403	92298											
ZNF646	9726	broad.mit.edu	37	chr16	31094295	31094295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctctctccccccaggagCcccagtggcaccagtgacgg	6	7	10	18	1	2	1	0	1	2	0	5	2	3	2	6	3	1	1	6	3	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:31094295C>T	ENST00000300850.5	+	3	5670	c.5381C>T	c.(5380-5382)gCc>gTc	p.A1794V	ZNF646_ENST00000394979.2_3'UTR	NM_014699.3	NP_055514.3	O15015	ZN646_HUMAN	zinc finger protein 646	1630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCCCCAGGAGCCCCAGTGGCA	0.692													3	13					0	0	0	0	T	31094295	C	T	31094295	3	4	479	1	0	0	0	0	1	0	0	0	18157	739	26	4	5387	4	ZNF646	16	31094295	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	115438	31094295	59260458	404	92299											
ZNF267	10308	broad.mit.edu	37	chr16	31927006	31927008	+	In_Frame_Del	DEL	TTA	TTA	-																															ttatgctcgttcttcaaatcTtattatgcatcagagagttc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:31927006_31927008delTTA	ENST00000300870.10	+	4	1645_1647	c.1436_1438delTTA	c.(1435-1440)ctt>c	p.LI479del	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	479					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCTTCAAATCTTATTATGCATCA	0.36													62	54	---	---	---	---					-	31927008	TTA	-	31927006	7	5	479	1	0	1	0	1	0	0	0	0	17901	1609	56	0	1450	0	ZNF267	16	31927006	In_Frame_Del	DEL	TTA	TCGA-QK-A6VB-01A-12D-A34J-08	832711	31927006	58427747	405	92300											
AMFR	267	broad.mit.edu	37	chr16	56441908	56441908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccaaggtgtgcattcCgtgggtgtagccggtgatgg	8	9	17	7	2	0	1	0	1	0	0	1	2	1	1	3	4	3	2	3	4	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:56441908C>T	ENST00000290649.5	-	4	844	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	212					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GTGTGCATTCCGTGGGTGTAG	0.552													8	52					0	0	0	0	T	56441908	C	T	56441908	3	4	479	1	0	0	0	0	1	0	0	0	571	661	23	1	1341	1	AMFR	16	56441908	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	24514902	56441908	33912845	406	92301											
CDH8	1006	broad.mit.edu	37	chr16	61935344	61935344	+	Frame_Shift_Del	DEL	T	T	-																															acctgataggatatacttgaTttttttgctcccaggatcca																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:61935344delT	ENST00000577390.1	-	3	1240	c.286delA	c.(286-288)tcfs	p.I96fs	CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATATACTTGATTTTTTTGCTC	0.373													7	185	---	---	---	---					-	61935344	T	-	61935344	7	5	479	1	0	1	0	1	0	0	0	0	3145	1493	52	0	2153	0	CDH8	16	61935344	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	5493436	61935344	28419409	407	92302											
ACD	65057	broad.mit.edu	37	chr16	67693883	67693883	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagacacaagcagcgtggcCccgacgtcggacgtatcagg	10	5	13	13	5	2	1	2	0	0	1	3	3	2	2	2	3	2	2	2	3	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:67693883C>A	ENST00000219251.8	-	2	745	c.414G>T	c.(412-414)ggG>ggT	p.G138G	ACD_ENST00000393919.4_Silent_p.G141G	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	141					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCAGCGTGGCCCCGACGTCGG	0.716													20	19					1.50039e-11	1.72772e-11	1	0	A	67693883	C	A	67693883	2	1	479	1	0	0	0	0	0	0	0	1	135	610	22	4		4	ACD	16	67693883	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5758539	67693883	22660870	408	92303											
HAS3	3038	broad.mit.edu	37	chr16	69148807	69148807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttccttcggggcaatGcagagatgatcttcatgtcc	7	12	10	12	1	2	2	1	1	1	1	5	3	4	2	3	2	2	3	3	2	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:69148807G>A	ENST00000306560.1	+	4	1456	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.A434T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	434					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCGGGGCAATGCAGAGATGAT	0.547													68	120					0	0	0	0	A	69148807	G	A	69148807	3	1	479	1	0	0	0	0	1	0	0	0	7013	1319	46	4	1310	4	HAS3	16	69148807	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1454924	69148807	21205946	409	92304											
ZNF821	55565	broad.mit.edu	37	chr16	71894095	71894095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcatgtccattttctccagCctcctcttgagccgcttggc	5	14	7	15	1	3	1	1	1	2	0	6	1	5	1	5	1	2	1	5	1	0	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:71894095C>T	ENST00000425432.1	-	8	1444	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000565601.1_Silent_p.R355R|ZNF821_ENST00000446827.2_Silent_p.R313R|ZNF821_ENST00000313565.6_Silent_p.R313R|ZNF821_ENST00000564134.1_3'UTR|RP11-498D10.4_ENST00000569119.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TTTTCTCCAGCCTCCTCTTGA	0.587													25	78					0	0	0	0	T	71894095	C	T	71894095	2	4	479	1	0	0	0	0	0	0	0	1	18271	738	26	4		4	ZNF821	16	71894095	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2745288	71894095	18460658	410	92305											
PKD1L2	114780	broad.mit.edu	37	chr16	81208415	81208415	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacacagccttggccagctgGaggagctgctcggggccacc	7	5	15	14	1	0	0	0	0	0	0	1	3	0	2	4	5	4	3	4	5	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:81208415G>T	ENST00000599697.1	-	16	2687	c.2688C>A	c.(2686-2688)ctC>ctA	p.L896L	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	896	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGCCAGCTGGAGGAGCTGCT	0.582													18	58					1.2644e-06	1.37278e-06	1	0	T	81208415	G	T	81208415	2	4	479	1	0	0	0	0	0	0	0	1	12037	1161	41	2		2	PKD1L2	16	81208415	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	9314320	81208415	9146338	411	92306											
CDH13	1012	broad.mit.edu	37	chr16	83711849	83711849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgccttccacaccctgCtgatcaaagtggaaaatgaa	12	11	7	11	0	2	2	1	2	1	0	3	3	3	3	3	1	2	1	3	1	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:83711849C>T	ENST00000566620.1	+	10	1611	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	CDH13_ENST00000268613.10_Silent_p.L488L|CDH13_ENST00000428848.3_Silent_p.L402L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	441	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACACCCTGCTGATCAAAGT	0.542													27	37					0	0	0	0	T	83711849	C	T	83711849	2	4	479	1	0	0	0	0	0	0	0	1	3128	796	28	4		4	CDH13	16	83711849	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2503434	83711849	6642904	412	92307											
MLYCD	23417	broad.mit.edu	37	chr16	83941859	83941859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgttttgcacgtggcacTgactggtgacatctccagca	7	11	12	11	2	1	2	0	2	1	0	3	2	1	2	1	3	2	4	1	3	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:83941859T>C	ENST00000262430.4	+	3	789	c.770T>C	c.(769-771)cTg>cCg	p.L257P	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	257					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CACGTGGCACTGACTGGTGAC	0.532													18	74					0	0	0	0	C	83941859	T	C	83941859	3	2	479	1	0	0	0	0	1	0	0	0	9707	1580	55	5	780	5	MLYCD	16	83941859	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	230010	83941859	6412894	413	92308											
ANKRD11	29123	broad.mit.edu	37	chr16	89346491	89346491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactttcttccacgggttcCgcttcaccatctgcggcatc	6	12	8	15	3	3	1	1	0	2	1	6	1	5	1	3	2	1	3	3	2	0	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:89346491C>T	ENST00000301030.4	-	9	6919	c.6459G>A	c.(6457-6459)gcG>gcA	p.A2153A	ANKRD11_ENST00000378330.2_Silent_p.A2153A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2153	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCACGGGTTCCGCTTCACCAT	0.647													17	21					0	0	0	0	T	89346491	C	T	89346491	2	4	479	1	0	0	0	0	0	0	0	1	639	639	23	1		1	ANKRD11	16	89346491	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5404632	89346491	1008262	414	92309											
MINK1	50488	broad.mit.edu	37	chr17	4788779	4788779	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctctgtgtcttcacagtGgattttggggtgagtgctca	5	15	12	9	0	4	1	2	1	2	0	5	2	5	2	1	3	1	1	1	3	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:4788779G>A	ENST00000355280.6	+	7	706	c.508_splice	c.e7-1	p.V170_splice	MINK1_ENST00000453408.3_Splice_Site_p.V170_splice|MINK1_ENST00000347992.7_Splice_Site_p.V170_splice	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	170	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTTCACAGTGGATTTTGGGG	0.592													7	89					0	0	0	0	A	4788779	G	A	4788779	5	1	479	1	0	0	0	0	0	0	1	0	9656	1362	47	4	275	4	MINK1	17	4788779	Splice_Site	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08		4788779	76406431	415	92310											
CHRNE	1145	broad.mit.edu	37	chr17	4802766	4802766	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccctccgcgcttacgtgGcgcagccgcggggacatggc	4	5	15	17	6	0	0	0	0	0	0	1	1	1	1	4	4	2	2	4	4	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:4802766G>A	ENST00000293780.4	-	9	1039	c.1029C>T	c.(1027-1029)cgC>cgT	p.R343R	C17orf107_ENST00000521575.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	343					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						CGCTTACGTGGCGCAGCCGCG	0.677													6	4					0	0	0	0	A	4802766	G	A	4802766	2	1	479	1	0	0	0	0	0	0	0	1	3424	1190	42	4		4	CHRNE	17	4802766	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	13987	4802766	76392444	416	92311											
USP6	9098	broad.mit.edu	37	chr17	5074001	5074001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgagccgagggcatatgCgggggggcagccaaccagag	9	4	17	11	2	0	2	0	1	0	1	0	3	0	2	4	4	4	2	4	4	2	2	rs146195872		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:5074001C>T	ENST00000574788.1	+	36	5975	c.3745C>T	c.(3745-3747)Cgg>Tgg	p.R1249W	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R932W|USP6_ENST00000250066.6_Missense_Mutation_p.R1249W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1249					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGCATATGCGGGGGGGCAG	0.542			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								18	54					0	0	0	0	T	5074001	C	T	5074001	3	4	479	1	0	0	0	0	1	0	0	0	17182	759	27	1	3851	1	USP6	17	5074001	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	271235	5074001	76121209	417	92312											
SLC13A5	284111	broad.mit.edu	37	chr17	6609969	6609969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtaattaccgtgcaggCttggcccccacccagaggag	9	6	13	13	2	0	1	0	0	0	1	0	2	0	2	4	4	2	3	4	4	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:6609969C>A	ENST00000433363.2	-	3	593	c.360G>T	c.(358-360)aaG>aaT	p.K120N	SLC13A5_ENST00000381074.4_Missense_Mutation_p.K77N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K120N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K120N	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	120						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ACCGTGCAGGCTTGGCCCCCA	0.647													3	21					0.004672	0.00481562	1	0	A	6609969	C	A	6609969	3	1	479	1	0	0	0	0	1	0	0	0	14483	796	28	4	1386	4	SLC13A5	17	6609969	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1535968	6609969	74585241	418	92313											
ATP1B2	482	broad.mit.edu	37	chr17	7556715	7556716	+	Frame_Shift_Ins	INS	-	-	T																															tatcctcctcttctacctcgINSttttttatgggttcctcacc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7556715_7556716insT	ENST00000250111.4	+	2	543_544	c.136_137insT	c.(136-138)tttfs	p.F46fs		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	46					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTTCTACCTCGTTTTTTATGGG	0.559													17	150	---	---	---	---					T	7556716	-	T	7556715	7	5	479	1	0	1	1	0	0	0	0	0	1137	1145	40	0	142	0	ATP1B2	17	7556715	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	946746	7556715	73638495	419	92314											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			23	21					0	0	0	0	C	7578190	T	C	7578190	3	2	479	1	0	0	0	0	1	0	0	0	16476	1406	49	5	635	5	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	21475	7578190	73617020	420	92315											
TP53	7157	broad.mit.edu	37	chr17	7578370	7578370	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccagccccagctgctcaCcatcgctatctgagcagcgc	7	8	8	18	2	3	1	1	1	2	0	5	1	3	1	4	0	5	4	4	0	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7578370C>T	ENST00000420246.2	-	5	692		c.e5+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		CAGCTGCTCACCATCGCTATC	0.632		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)			44	52					0	0	0	0	T	7578370	C	T	7578370	5	4	479	1	0	0	0	0	0	0	1	0	16476	521	18	4	738	4	TP53	17	7578370	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	180	7578370	73616840	421	92316											
DNAH2	146754	broad.mit.edu	37	chr17	7623122	7623122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcaagctggtcagggCgggccactcgggctgctgtg	5	6	17	13	2	1	0	1	0	0	0	2	0	1	0	2	5	2	4	2	5	1	0	rs145790522		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7623122C>T	ENST00000572933.1	+	2	1530	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R24W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R24W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R24W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	24	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGTCAGGGCGGGCCACTCG	0.627													21	19					0	0	0	0	T	7623122	C	T	7623122	3	4	479	1	0	0	0	0	1	0	0	0	4639	759	27	1	72	1	DNAH2	17	7623122	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	44752	7623122	73572088	422	92317											
KDM6B	23135	broad.mit.edu	37	chr17	7755268	7755268	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgtcgacccctgcaGgccaccaggagaataacaac	11	7	9	14	1	1	1	0	0	1	1	3	3	1	1	4	2	3	2	4	2	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7755268G>T	ENST00000254846.5	+	18	4554		c.e18-1		KDM6B_ENST00000448097.2_Splice_Site	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B						inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GACCCCTGCAGGCCACCAGGA	0.632											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34					0.00829132	0.00853078	1	0	T	7755268	G	T	7755268	5	4	479	1	0	0	0	0	0	0	1	0	8190	1014	35	4	4223	4	KDM6B	17	7755268	Splice_Site	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	132146	7755268	73439942	423	92318											
PIK3R5	23533	broad.mit.edu	37	chr17	8791556	8791556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagaccacaacacgtagCgtggaagccttgggatcctc	12	6	10	13	2	0	1	0	0	0	1	2	3	1	3	4	2	3	1	4	2	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:8791556C>T	ENST00000447110.1	-	10	1672	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	PIK3R5_ENST00000581552.1_Silent_p.T516T|PIK3R5_ENST00000584803.1_Silent_p.T516T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	516					platelet activation	cytosol|membrane|nucleus		p.T516T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAACACGTAGCGTGGAAGCCT	0.627													28	97					0	0	0	0	T	8791556	C	T	8791556	2	4	479	1	0	0	0	0	0	0	0	1	11994	755	27	1		1	PIK3R5	17	8791556	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1036288	8791556	72403654	424	92319											
MYH13	8735	broad.mit.edu	37	chr17	10247397	10247397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggggaacatgcactcCtcttccaggatggagaagat	10	9	12	10	0	1	2	0	0	1	2	3	5	3	4	3	4	2	1	3	4	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:10247397C>A	ENST00000418404.3	-	15	1777	c.1614G>T	c.(1612-1614)gaG>gaT	p.E538D	MYH13_ENST00000252172.4_Missense_Mutation_p.E538D|MYH13_ENST00000570743.1_Missense_Mutation_p.E538D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	538	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATGCACTCCTCTTCCAGGA	0.473													36	116					2.87052e-16	3.44462e-16	1	0	A	10247397	C	A	10247397	3	1	479	1	0	0	0	0	1	0	0	0	10102	680	24	4	4306	4	MYH13	17	10247397	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1455841	10247397	70947813	425	92320											
DNAH9	1770	broad.mit.edu	37	chr17	11515122	11515122	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcaagtgttttcacAaatgtgtttgactcaagtta	12	13	9	7	0	2	1	2	1	0	0	2	2	2	2	1	1	1	4	1	1	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:11515122A>G	ENST00000579828.1	+	4	958	c.929A>G	c.(928-930)cAa>cGa	p.Q310R	DNAH9_ENST00000262442.3_Intron|DNAH9_ENST00000579406.1_Intron|DNAH9_ENST00000454412.2_Intron			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	0	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTTTCACAAATGTGTTTG	0.453													4	115					0	0	0	0	G	11515122	A	G	11515122	3	3	479	1	0	0	0	0	1	0	0	0	4644	145	5	5		5	DNAH9	17	11515122	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	1267725	11515122	69680088	426	92321											
ZNF18	7566	broad.mit.edu	37	chr17	11881757	11881759	+	In_Frame_Del	DEL	CTC	CTC	-																															ttctgggaggtctctctcttCtcctcaagccacatggtgga																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:11881757_11881759delCTC	ENST00000322748.3	-	9	1769_1771	c.1165_1167delGAG	c.(1165-1167)del	p.E389del	ZNF18_ENST00000454073.3_In_Frame_Del_p.E388del|ZNF18_ENST00000580613.1_Intron|ZNF18_ENST00000580306.1_In_Frame_Del_p.E389del	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	389					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCTCTCTCTTCTCCTCAAGCCAC	0.522													62	99	---	---	---	---					-	11881759	CTC	-	11881757	7	5	479	1	0	1	0	1	0	0	0	0	17842	912	32	0	486	0	ZNF18	17	11881757	In_Frame_Del	DEL	CTC	TCGA-QK-A6VB-01A-12D-A34J-08	366635	11881757	69313453	427	92322											
NCOR1	9611	broad.mit.edu	37	chr17	15942951	15942951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcagcaaaagaatggcCtctagagctaactgagcctg	14	7	11	9	0	2	3	1	1	1	2	2	4	2	4	2	2	4	2	2	2	5	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:15942951C>A	ENST00000268712.3	-	44	7008	c.6751G>T	c.(6751-6753)Ggc>Tgc	p.G2251C	NCOR1_ENST00000395851.1_Missense_Mutation_p.G2148C|NCOR1_ENST00000395857.3_Missense_Mutation_p.G835C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2251	ID2 (By similarity).|Interaction with C1D (By similarity).				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			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)		AAAGAATGGCCTCTAGAGCTA	0.443													20	25					5.03518e-11	5.7864e-11	1	0	A	15942951	C	A	15942951	3	1	479	1	0	0	0	0	1	0	0	0	10305	681	24	4	583	4	NCOR1	17	15942951	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4061194	15942951	65252259	428	92323											
NCOR1	9611	broad.mit.edu	37	chr17	16024504	16024504	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgttggcagtctttcGcccccggggtgtggcttgct	2	13	14	12	2	1	1	0	1	1	0	2	1	1	1	2	4	1	4	2	4	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:16024504G>A	ENST00000268712.3	-	16	1971	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R572*|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R463*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	572					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			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)		GCAGTCTTTCGCCCCCGGGGT	0.542													38	156					0	0	0	0	A	16024504	G	A	16024504	4	1	479	1	0	0	0	0	0	1	0	0	10305	1095	38	1	5732	1	NCOR1	17	16024504	Nonsense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	81553	16024504	65170706	429	92324											
MPRIP	23164	broad.mit.edu	37	chr17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-																															acaggacttcaccaatgaagCccccccagctcctctcccag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:17046886delC	ENST00000395811.5	+	9	1141	c.1052delC	c.(1051-1053)gcfs	p.A351fs	MPRIP_ENST00000395804.3_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000341712.4_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000444976.1_Intron	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACCAATGAAGCCCCCCCAGCT	0.652													15	19	---	---	---	---					-	17046886	C	-	17046886	7	5	479	1	0	1	0	1	0	0	0	0	9813	739	26	0	1086	0	MPRIP	17	17046886	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	1022382	17046886	64148324	430	92325											
PRPSAP2	5636	broad.mit.edu	37	chr17	18814458	18814458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgcctgggaattgcagtGattcatggagaggcgcagga	9	8	16	8	2	1	2	1	1	0	1	1	5	1	4	1	4	2	2	1	4	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:18814458G>A	ENST00000268835.2	+	9	910	c.627G>A	c.(625-627)gtG>gtA	p.V209V	PRPSAP2_ENST00000542013.1_Silent_p.V209V|PRPSAP2_ENST00000536323.1_Silent_p.V123V|PRPSAP2_ENST00000419071.2_Silent_p.V169V	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	209					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GAATTGCAGTGATTCATGGAG	0.572													22	71					0	0	0	0	A	18814458	G	A	18814458	2	1	479	1	0	0	0	0	0	0	0	1	12662	1277	45	2		2	PRPSAP2	17	18814458	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1767572	18814458	62380752	431	92326											
LGALS9	3965	broad.mit.edu	37	chr17	25958323	25958323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttcccaggctccctaccTgagtccagtgagttccaggg	6	9	12	14	1	0	2	0	2	0	0	4	2	4	2	5	3	1	3	5	3	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:25958323T>C	ENST00000395473.2	+	1	1500	c.32T>C	c.(31-33)cTg>cCg	p.L11P	AC015688.3_ENST00000584605.1_Intron|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_5'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.L11P|LGALS9_ENST00000310394.5_Missense_Mutation_p.L11P|LGALS9_ENST00000302228.5_Missense_Mutation_p.L11P	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	11					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTCCCTACCTGAGTCCAGTG	0.627													7	63					0	0	0	0	C	25958323	T	C	25958323	3	2	479	1	0	0	0	0	1	0	0	0	8802	1580	55	5	34	5	LGALS9	17	25958323	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	7143865	25958323	55236887	432	92327											
CORO6	84940	broad.mit.edu	37	chr17	27944056	27944056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgccactggctcctcgaagTtgttctgcccgagcacagga	7	9	12	13	2	1	0	0	0	1	0	3	3	2	1	3	2	3	4	3	2	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:27944056T>C	ENST00000345068.5	-	7	971	c.758A>G	c.(757-759)aAc>aGc	p.N253S	CORO6_ENST00000388767.3_Missense_Mutation_p.N253S|CORO6_ENST00000445145.2_Missense_Mutation_p.N253S|CORO6_ENST00000456796.3_Missense_Mutation_p.N19S|CORO6_ENST00000584969.1_Missense_Mutation_p.N253S|CORO6_ENST00000580212.1_Missense_Mutation_p.N213S|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	253					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CTCCTCGAAGTTGTTCTGCCC	0.607													12	123					0	0	0	0	C	27944056	T	C	27944056	3	2	479	1	0	0	0	0	1	0	0	0	3788	1725	60	5	680	5	CORO6	17	27944056	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	1985733	27944056	53251154	433	92328											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29848958	29848958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacgcctaggaaaatgCggcacgtgtacaacagcgaa	14	4	13	10	4	0	1	0	0	0	1	0	3	0	2	1	3	4	3	1	3	6	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:29848958C>T	ENST00000325874.8	+	6	1013	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R160W	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	262	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.R262W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TAGGAAAATGCGGCACGTGTA	0.502													12	58					0	0	0	0	T	29848958	C	T	29848958	3	4	479	1	0	0	0	0	1	0	0	0	12978	759	27	1	806	1	RAB11FIP4	17	29848958	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1904902	29848958	51346252	434	92329											
UTP6	55813	broad.mit.edu	37	chr17	30192412	30192412	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcggatccaaactctctcaAagctctctcataatattctc	11	13	4	13	1	5	0	2	0	3	0	9	1	6	1	1	1	3	1	1	1	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:30192412A>G	ENST00000261708.4	-	18	1746	c.1609T>C	c.(1609-1611)Ttg>Ctg	p.L537L		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	537					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AACTCTCTCAAAGCTCTCTCA	0.373													5	99					0	0	0	0	G	30192412	A	G	30192412	2	3	479	1	0	0	0	0	0	0	0	1	17198	11	1	5		5	UTP6	17	30192412	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	343454	30192412	51002798	435	92330											
SUZ12	23512	broad.mit.edu	37	chr17	30320994	30320994	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttactcaagcatcttaaActctgccatagcagatttat	13	14	5	9	0	3	1	1	0	2	1	3	1	3	1	1	0	5	3	1	0	6	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:30320994A>T	ENST00000322652.5	+	12	1633	c.1404A>T	c.(1402-1404)aaA>aaT	p.K468N	SUZ12_ENST00000580398.1_Missense_Mutation_p.K445N	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	468					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AGCATCTTAAACTCTGCCATA	0.348			T	JAZF1	endometrial stromal tumours								29	152					0	0	0	0	T	30320994	A	T	30320994	3	4	479	1	0	0	0	0	1	0	0	0	15506	40	2	5	1450	5	SUZ12	17	30320994	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	128582	30320994	50874216	436	92331											
C17orf102	400591	broad.mit.edu	37	chr17	32906089	32906090	+	Frame_Shift_Ins	INS	-	-	C																															ctgggggtgggggtagggtgINSccccctacccgcgcctctgg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:32906089_32906090insC	ENST00000357754.1	-	1	298_299	c.210_211insG	c.(208-213)ggacccfs	p.P71fs		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	71										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GGGGTAGGGTGCCCCCTACCCG	0.683													66	123	---	---	---	---					C	32906090	-	C	32906089	7	5	479	1	0	1	1	0	0	0	0	0	1862	1319	46	0	300	0	C17orf102	17	32906089	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	2585095	32906089	48289121	437	92332											
DUSP14	11072	broad.mit.edu	37	chr17	35872691	35872691	+	Frame_Shift_Del	DEL	C	C	-																															tgtgagcaggaagcacggggCcaccttggtgcactgtgctg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:35872691delC	ENST00000487847.1	+	2	1295	c.317delC	c.(316-318)gcfs	p.A106fs	DUSP14_ENST00000394386.1_Frame_Shift_Del_p.A106fs|DUSP14_ENST00000394389.4_Frame_Shift_Del_p.A106fs			O95147	DUS14_HUMAN	dual specificity phosphatase 14	106	Tyrosine-protein phosphatase.						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				AAGCACGGGGCCACCTTGGTG	0.572													37	51	---	---	---	---					-	35872691	C	-	35872691	7	5	479	1	0	1	0	1	0	0	0	0	4850	739	26	0	319	0	DUSP14	17	35872691	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	2966602	35872691	45322519	438	92333											
TOP2A	7153	broad.mit.edu	37	chr17	38568020	38568020	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggagttaccagtttcAtccaacttgtccttcaaata	12	14	5	10	0	3	0	3	0	0	0	5	1	5	1	3	1	2	2	3	1	5	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:38568020A>G	ENST00000423485.1	-	8	998	c.840T>C	c.(838-840)gaT>gaC	p.D280D		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	280					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TACCAGTTTCATCCAACTTGT	0.338													11	80					0	0	0	0	G	38568020	A	G	38568020	2	3	479	1	0	0	0	0	0	0	0	1	16460	214	8	5		5	TOP2A	17	38568020	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	2695329	38568020	42627190	439	92334											
KCNH4	23415	broad.mit.edu	37	chr17	40315821	40315821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagctcctcgcccaaaagGctgaccagggagccccgagg	9	3	14	15	2	0	1	0	1	0	0	2	3	1	2	5	4	2	3	5	4	2	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:40315821G>A	ENST00000264661.3	-	13	2612	c.2280C>T	c.(2278-2280)agC>agT	p.S760S	KCNH4_ENST00000607371.1_Silent_p.S760S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	760					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGCCCAAAAGGCTGACCAGGG	0.701													3	9					0	0	0	0	A	40315821	G	A	40315821	2	1	479	1	0	0	0	0	0	0	0	1	8087	1194	42	4		4	KCNH4	17	40315821	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1747801	40315821	40879389	440	92335											
HCRT	3060	broad.mit.edu	37	chr17	40336494	40336494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccccggacgacaacagcGcgggcggcagcagcagcagc	9	0	15	17	6	0	0	0	0	0	0	0	2	0	1	3	3	6	4	3	3	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:40336494G>A	ENST00000293330.1	-	2	160	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	25					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle				breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CGACAACAGCGCGGgcggcag	0.701													12	13					0	0	0	0	A	40336494	G	A	40336494	3	1	479	1	0	0	0	0	1	0	0	0	7050	1087	38	1	325	1	HCRT	17	40336494	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	20673	40336494	40858716	441	92336											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390845	42390845	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagaatacatcaccacGgctctgcgtgacacccggac	11	7	9	14	3	3	2	2	1	1	1	3	3	3	3	2	2	2	1	2	2	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:42390845G>T	ENST00000426726.3	+	4	706	c.432G>T	c.(430-432)acG>acT	p.T144T	RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	144	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACATCACCACGGCTCTGCGTG	0.567													13	67					1.5739e-10	1.79784e-10	1	0	T	42390845	G	T	42390845	2	4	479	1	0	0	0	0	0	0	0	1	13829	1103	39	3		3	RUNDC3A	17	42390845	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2054351	42390845	38804365	442	92337											
GJC1	10052	broad.mit.edu	37	chr17	42883140	42883140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccccacaaatgtggaatGgttgtgaatctcctctagca	10	12	8	11	0	2	1	0	1	2	0	4	2	3	2	3	2	1	2	3	2	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:42883140G>T	ENST00000426548.1	-	3	315	c.46C>A	c.(46-48)Cat>Aat	p.H16N	GJC1_ENST00000590758.1_Missense_Mutation_p.H16N|GJC1_ENST00000592524.1_Missense_Mutation_p.H16N|GJC1_ENST00000330514.4_Missense_Mutation_p.H16N	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	16					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AATGTGGAATGGTTGTGAATC	0.433													22	31					1.10923e-09	1.24706e-09	1	0	T	42883140	G	T	42883140	3	4	479	1	0	0	0	0	1	0	0	0	6465	1348	47	4	1148	4	GJC1	17	42883140	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	492295	42883140	38312070	443	92338											
SGCA	6442	broad.mit.edu	37	chr17	48245065	48245066	+	Frame_Shift_Ins	INS	-	-	C																															cttcctctacggctctgccaINSccccagaagatcgtgggctc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48245065_48245066insC	ENST00000262018.3	+	3	316_317	c.280_281insC	c.(280-282)cccfs	p.P94fs	SGCA_ENST00000543315.1_Frame_Shift_Ins_p.P94fs|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Intron|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.P94fs	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	94					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CGGCTCTGCCACCCCAGAAGAT	0.653													13	21	---	---	---	---					C	48245066	-	C	48245065	7	5	479	1	0	1	1	0	0	0	0	0	14286	159	6	0	290	0	SGCA	17	48245065	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	5361925	48245065	32950145	444	92339											
COL1A1	1277	broad.mit.edu	37	chr17	48278809	48278809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgacttggccttcctcttgGccgtgcgtcaggagggcggt	3	11	15	12	4	2	0	1	0	1	0	4	2	3	1	3	5	1	0	3	5	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48278809G>A	ENST00000225964.5	-	1	184	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	22			G -> R (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTTCCTCTTGGCCGTGCGTCA	0.572			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						3	35					0	0	0	0	A	48278809	G	A	48278809	2	1	479	1	0	0	0	0	0	0	0	1	3707	1190	42	4		4	COL1A1	17	48278809	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	33744	48278809	32916401	445	92340											
MYCBPAP	84073	broad.mit.edu	37	chr17	48605577	48605577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatgtggctgaggtctGtgctgggcctgcctgagaag	6	11	15	9	0	1	2	0	2	1	1	2	3	2	2	3	3	2	2	3	3	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48605577G>A	ENST00000323776.5	+	16	2644	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.V791M	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	791					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCTGAGGTCTGTGCTGGGCCT	0.532													23	24					0	0	0	0	A	48605577	G	A	48605577	3	1	479	1	0	0	0	0	1	0	0	0	10089	1377	48	4	2544	4	MYCBPAP	17	48605577	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	326768	48605577	32589633	446	92341											
LUC7L3	51747	broad.mit.edu	37	chr17	48824016	48824016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaagtcatataagcacaGgagcaaaagtcgggacagag	17	5	12	7	2	1	1	1	0	0	1	3	4	1	3	0	2	2	2	0	2	5	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48824016G>T	ENST00000505658.1	+	9	1280	c.1091G>T	c.(1090-1092)aGg>aTg	p.R364M	LUC7L3_ENST00000393227.2_Missense_Mutation_p.R364M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R364M|LUC7L3_ENST00000544170.1_Missense_Mutation_p.R288M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	364	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TATAAGCACAGGAGCAAAAGT	0.408													15	73					6.31663e-08	6.96417e-08	1	0	T	48824016	G	T	48824016	3	4	479	1	0	0	0	0	1	0	0	0	9148	1000	35	4	1125	4	LUC7L3	17	48824016	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	218439	48824016	32371194	447	92342											
CUEDC1	404093	broad.mit.edu	37	chr17	55950170	55950170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctggcccagccatggcaGgtggacatccctctccactc	6	7	10	18	0	1	0	0	0	1	0	4	1	2	1	5	4	1	1	5	4	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:55950170G>A	ENST00000577830.1	-	5	1051	c.638C>T	c.(637-639)cCt>cTt	p.P213L	CUEDC1_ENST00000407144.2_Missense_Mutation_p.P213L|CUEDC1_ENST00000577840.1_Missense_Mutation_p.P76L|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P213L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	213										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AGCCATGGCAGGTGGACATCC	0.607													26	81					0	0	0	0	A	55950170	G	A	55950170	3	1	479	1	0	0	0	0	1	0	0	0	4084	1000	35	4	546	4	CUEDC1	17	55950170	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7126154	55950170	25245040	448	92343											
RPS6KB1	6198	broad.mit.edu	37	chr17	57970583	57970583	+	Frame_Shift_Del	DEL	C	C	-																															gcgggacggcttttacccagCcccggacttccgagacaggg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:57970583delC	ENST00000225577.4	+	1	59	c.38delC	c.(37-39)gcfs	p.A13fs	RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.A13fs|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.A13fs	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	13					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TTTTACCCAGCCCCGGACTTC	0.657													9	17	---	---	---	---					-	57970583	C	-	57970583	7	5	479	1	0	1	0	1	0	0	0	0	13741	739	26	0	40	0	RPS6KB1	17	57970583	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	2020413	57970583	23224627	449	92344											
BCAS3	54828	broad.mit.edu	37	chr17	59465981	59465981	+	Frame_Shift_Del	DEL	A	A	-																															tgcttttcttttcaaaagggAaaaaaaaaggaaaaaaaaaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59465981delA	ENST00000589222.1	+	25	2730	c.2662delA	c.(2662-2664)aafs	p.K890fs	BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000408905.3_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000390652.5_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCAAAAGGGAAAAAAAAAGG	0.443													5	3	---	---	---	---					-	59465981	A	-	59465981	7	5	479	1	0	1	0	1	0	0	0	0	1356	261	9	0		0	BCAS3	17	59465981	Frame_Shift_Del	DEL	A	TCGA-QK-A6VB-01A-12D-A34J-08	1495398	59465981	21729229	450	92345											
TBX4	9496	broad.mit.edu	37	chr17	59534957	59534957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaagaagttccacgaGgcgggcaccgagatgatcat	11	7	13	10	3	2	3	1	1	1	2	3	6	3	4	2	3	0	2	2	3	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59534957G>T	ENST00000393853.4	+	3	409	c.246G>T	c.(244-246)gaG>gaT	p.E82D	TBX4_ENST00000240335.1_Missense_Mutation_p.E82D			P57082	TBX4_HUMAN	T-box 4	82					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGTTCCACGAGGCGGGCACCG	0.607													9	80					9.70103e-10	1.09714e-09	1	0	T	59534957	G	T	59534957	3	4	479	1	0	0	0	0	1	0	0	0	15754	991	35	4	252	4	TBX4	17	59534957	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	68976	59534957	21660253	451	92346											
BRIP1	83990	broad.mit.edu	37	chr17	59885956	59885956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaatatgccgtcctccGgagctctctagtaatctgag	8	11	9	13	2	2	2	0	2	2	0	5	3	4	3	4	1	2	2	4	1	4	3	rs28997569	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59885956G>A	ENST00000259008.2	-	7	1057	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	BRIP1_ENST00000577598.1_Missense_Mutation_p.R264W	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	264	Helicase ATP-binding.		R -> W (rare polymorphism; dbSNP:rs28997569).		DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GCCGTCCTCCGGAGCTCTCTA	0.433			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					33	109					0	0	0	0	A	59885956	G	A	59885956	3	1	479	1	0	0	0	0	1	0	0	0	1522	1115	39	1	3015	1	BRIP1	17	59885956	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	350999	59885956	21309254	452	92347											
LIMD2	80774	broad.mit.edu	37	chr17	61775953	61775953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacctccttgtgggcccAgagctccttgtgctgcttgc	3	12	11	15	0	0	1	0	0	0	1	3	1	3	1	5	1	4	3	5	1	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:61775953A>G	ENST00000259006.3	-	5	501	c.343T>C	c.(343-345)Tgg>Cgg	p.W115R	LIMD2_ENST00000578402.1_Missense_Mutation_p.W115R|LIMD2_ENST00000578993.1_Missense_Mutation_p.W75R|LIMD2_ENST00000582055.1_Missense_Mutation_p.W66R|LIMD2_ENST00000578061.1_Missense_Mutation_p.W115R|LIMD2_ENST00000583211.1_Missense_Mutation_p.W66R	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	115							zinc ion binding			kidney(1)|lung(2)	3						TTGTGGGCCCAGAGCTCCTTG	0.632													4	58					0	0	0	0	G	61775953	A	G	61775953	3	3	479	1	0	0	0	0	1	0	0	0	8853	188	7	5	44	5	LIMD2	17	61775953	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	1889997	61775953	19419257	453	92348											
GPR142	350383	broad.mit.edu	37	chr17	72368024	72368024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcagtgctggcccgccAggtgccccaggctgtggtgc	4	6	18	13	1	0	0	0	0	0	0	0	1	0	1	4	5	4	3	4	5	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:72368024A>G	ENST00000335666.4	+	4	722	c.674A>G	c.(673-675)cAg>cGg	p.Q225R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	225						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGGCCCGCCAGGTGCCCCAG	0.617													15	18					0	0	0	0	G	72368024	A	G	72368024	3	3	479	1	0	0	0	0	1	0	0	0	6699	188	7	5	688	5	GPR142	17	72368024	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	10592071	72368024	8827186	454	92349											
OTOP3	347741	broad.mit.edu	37	chr17	72945430	72945430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccagatatggttcgccatCgtcaacttcggcctgcctct	7	12	8	14	3	2	1	1	0	1	1	5	1	2	1	4	2	3	1	4	2	3	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:72945430C>T	ENST00000328801.4	+	7	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	570						integral to membrane|intracellular	zinc ion binding			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)					GGTTCGCCATCGTCAACTTCG	0.597													54	74					0	0	0	0	T	72945430	C	T	72945430	2	4	479	1	0	0	0	0	0	0	0	1	11378	874	31	1		1	OTOP3	17	72945430	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	577406	72945430	8249780	455	92350											
UNC13D	201294	broad.mit.edu	37	chr17	73830723	73830725	+	In_Frame_Del	DEL	CTT	CTT	-																															ttggctgcctggccttggtcCttctggcctgaagagagctc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:73830723_73830725delCTT	ENST00000207549.4	-	22	2444_2446	c.2065_2067delAAG	c.(2065-2067)del	p.K689del	UNC13D_ENST00000412096.2_In_Frame_Del_p.K689del	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	689					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCTTGGTCCTTCTGGCCTGAA	0.631									Familial Hemophagocytic Lymphohistiocytosis				11	57	---	---	---	---					-	73830725	CTT	-	73830723	7	5	479	1	0	1	0	1	0	0	0	0	17083	680	24	0	1249	0	UNC13D	17	73830723	In_Frame_Del	DEL	CTT	TCGA-QK-A6VB-01A-12D-A34J-08	885293	73830723	7364487	456	92351											
UNC13D	201294	broad.mit.edu	37	chr17	73836377	73836377	+	Frame_Shift_Del	DEL	G	G	-																															ggtctcagtgcggggttccaGggggtaccactggtcctctc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:73836377delG	ENST00000207549.4	-	10	1166	c.787delC	c.(787-789)tgfs	p.L263fs	UNC13D_ENST00000412096.2_Frame_Shift_Del_p.L263fs|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	263	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGGTTCCAGGGGGTACCAC	0.652									Familial Hemophagocytic Lymphohistiocytosis				8	52	---	---	---	---					-	73836377	G	-	73836377	7	5	479	1	0	1	0	1	0	0	0	0	17083	991	35	0	2577	0	UNC13D	17	73836377	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	5654	73836377	7358833	457	92352											
DNAH17	8632	broad.mit.edu	37	chr17	76568838	76568838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgctccggaataggcaGcaaggttttgcctttgatct	8	12	12	9	1	1	1	0	1	1	0	2	2	2	2	2	4	3	4	2	4	3	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:76568838G>T	ENST00000389840.5	-	3	608	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	DNAH17_ENST00000585328.1_Missense_Mutation_p.L162M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAATAGGCAGCAAGGTTTTG	0.587													8	30					0.000157383	0.000166744	1	0	T	76568838	G	T	76568838	3	4	479	1	0	0	0	0	1	0	0	0	4638	962	34	4	13220	4	DNAH17	17	76568838	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2732461	76568838	4626372	458	92353											
USP36	57602	broad.mit.edu	37	chr17	76794995	76794995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacacatcataccttccCtcggtcaaactcttcgtccc	9	11	3	18	2	4	0	3	0	1	0	8	0	6	0	3	1	2	0	3	1	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:76794995C>T	ENST00000312010.6	-	19	3559	c.3235G>A	c.(3235-3237)Ggg>Agg	p.G1079R	USP36_ENST00000449938.2_Missense_Mutation_p.G684R|USP36_ENST00000542802.2_Missense_Mutation_p.G1079R	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1077					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CATACCTTCCCTCGGTCAAAC	0.597													50	229					0	0	0	0	T	76794995	C	T	76794995	3	4	479	1	0	0	0	0	1	0	0	0	17163	681	24	4	144	4	USP36	17	76794995	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	226157	76794995	4400215	459	92354											
CBX2	84733	broad.mit.edu	37	chr17	77758304	77758304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaggagctgagcctccaGgtcttggacttgcagagtgt	8	9	13	11	0	1	2	0	1	1	1	2	4	2	4	3	3	3	2	3	3	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:77758304G>T	ENST00000310942.4	+	5	1166	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	354					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGAGCCTCCAGGTCTTGGACT	0.701													13	29					0.00136819	0.00142312	1	0	T	77758304	G	T	77758304	3	4	479	1	0	0	0	0	1	0	0	0	2743	991	35	4	1428	4	CBX2	17	77758304	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	963309	77758304	3436906	460	92355											
CCDC40	55036	broad.mit.edu	37	chr17	78039387	78039387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgacgaggcgcacagggCggtgctggaggcgctcaggt	6	4	19	12	6	1	0	1	0	0	0	1	3	1	1	1	6	1	3	1	6	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:78039387C>T	ENST00000397545.4	+	10	1571	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.A515V|CCDC40_ENST00000374877.3_Missense_Mutation_p.A515V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	515					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				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)			GCGCACAGGGCGGTGCTGGAG	0.687													52	56					0	0	0	0	T	78039387	C	T	78039387	3	4	479	1	0	0	0	0	1	0	0	0	2838	768	27	1	1582	1	CCDC40	17	78039387	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	281083	78039387	3155823	461	92356											
AZI1	22994	broad.mit.edu	37	chr17	79182779	79182779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtgctgttggatcttCtaaggttgttgatggcctgg	4	15	16	6	1	2	1	0	1	2	0	2	2	2	2	1	5	1	4	1	5	1	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:79182779C>A	ENST00000269392.4	-	3	468	c.221G>T	c.(220-222)aGa>aTa	p.R74I	AZI1_ENST00000575907.1_Missense_Mutation_p.R74I|AZI1_ENST00000374782.3_Missense_Mutation_p.R74I|AZI1_ENST00000450824.2_Missense_Mutation_p.R74I	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	74					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTGGATCTTCTAAGGTTGTT	0.587													13	14					1.05317e-09	1.18873e-09	1	0	A	79182779	C	A	79182779	3	1	479	1	0	0	0	0	1	0	0	0	1244	913	32	2	3117	2	AZI1	17	79182779	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1143392	79182779	2012431	462	92357											
DUS1L	64118	broad.mit.edu	37	chr17	80019231	80019232	+	Splice_Site	DEL	TG	TG	-																															gggttgtgcaggttgccctcTgtgggaggaggagcggggaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:80019231_80019232delTG	ENST00000354321.7	-	7	1183		c.e7-2		DUS1L_ENST00000306796.5_Splice_Site			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)						tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGTTGCCCTCTGTGGGAGGAGG	0.663													22	33	---	---	---	---					-	80019232	TG	-	80019231	8	5	479	1	0	1	0	1	0	0	1	0	4841	1594	55	0	753	0	DUS1L	17	80019231	Splice_Site	DEL	TG	TCGA-QK-A6VB-01A-12D-A34J-08	836452	80019231	1175979	463	92358											
SLC39A6	25800	broad.mit.edu	37	chr18	33706880	33706880	+	Frame_Shift_Del	DEL	G	G	-																															actaattttctcagtggtctGggggaaagcagctgctttta																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:33706880delG	ENST00000269187.5	-	2	304	c.91delC	c.(91-93)agfs	p.Q31fs	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Frame_Shift_Del_p.Q31fs	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	31						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCAGTGGTCTGGGGGAAAGCA	0.453													27	95	---	---	---	---					-	33706880	G	-	33706880	7	5	479	1	0	1	0	1	0	0	0	0	14710	1357	47	0	2224	0	SLC39A6	18	33706880	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08		33706880	44370368	464	92359											
DCC	1630	broad.mit.edu	37	chr18	51013326	51013326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggagcaggaagaagtcAgtgtaatgcattttcctctc	10	13	10	8	1	2	1	1	0	1	1	5	3	3	3	1	2	2	3	1	2	3	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:51013326A>G	ENST00000442544.2	+	26	4512	c.3896A>G	c.(3895-3897)cAg>cGg	p.Q1299R	DCC_ENST00000581580.1_Intron|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1299					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAAGAAGTCAGTGTAATGCA	0.453													23	49					0	0	0	0	G	51013326	A	G	51013326	3	3	479	1	0	0	0	0	1	0	0	0	4314	188	7	5	3998	5	DCC	18	51013326	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	17306446	51013326	27063922	465	92360											
ALPK2	115701	broad.mit.edu	37	chr18	56246910	56246910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacccaggcaatgctcaccGaattccatctcttcgtcatc	9	10	5	17	2	3	0	2	0	1	0	7	1	4	0	4	1	1	2	4	1	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:56246910G>A	ENST00000361673.3	-	4	1311	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	366							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATGCTCACCGAATTCCATCT	0.512											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	35					0	0	0	0	A	56246910	G	A	56246910	2	1	479	1	0	0	0	0	0	0	0	1	545	1049	37	1		1	ALPK2	18	56246910	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5233584	56246910	21830338	466	92361											
SERPINB13	5275	broad.mit.edu	37	chr18	61264495	61264495	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctttactgtcacatccgcCccaggtcatgaaaatgttca	10	11	8	12	1	3	1	3	1	0	0	4	1	4	1	3	2	1	2	3	2	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:61264495C>A	ENST00000344731.5	+	8	1176	c.1074C>A	c.(1072-1074)gcC>gcA	p.A358A	SERPINB13_ENST00000269489.5_Silent_p.A306A	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	358					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCACATCCGCCCCAGGTCATG	0.507													24	61					1.10923e-09	1.24706e-09	1	0	A	61264495	C	A	61264495	2	1	479	1	0	0	0	0	0	0	0	1	14187	610	22	4		4	SERPINB13	18	61264495	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	5017585	61264495	16812753	467	92362											
CDH7	1005	broad.mit.edu	37	chr18	63491964	63491964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatgcagatattggagCtaatgctgaaatggagtaca	13	11	12	5	0	0	3	0	2	0	1	0	5	0	5	0	2	5	5	0	2	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:63491964C>T	ENST00000536984.2	+	6	1572	c.878C>T	c.(877-879)gCt>gTt	p.A293V	CDH7_ENST00000397968.2_Missense_Mutation_p.A293V|CDH7_ENST00000323011.3_Missense_Mutation_p.A293V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	293	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATATTGGAGCTAATGCTGAA	0.403													34	87					0	0	0	0	T	63491964	C	T	63491964	3	4	479	1	0	0	0	0	1	0	0	0	3144	797	28	4	896	4	CDH7	18	63491964	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2227469	63491964	14585284	468	92363											
RTTN	25914	broad.mit.edu	37	chr18	67869207	67869207	+	Frame_Shift_Del	DEL	T	T	-																															atcctgttaagatttcagggTtttttgacaattctgaaaag																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:67869207delT	ENST00000255674.6	-	4	696	c.410delA	c.(409-411)acfs	p.N137fs	RTTN_ENST00000437017.1_Frame_Shift_Del_p.N137fs|RTTN_ENST00000454359.1_Frame_Shift_Del_p.N137fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	137							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATTTCAGGGTTTTTTGACAA	0.358													10	44	---	---	---	---					-	67869207	T	-	67869207	7	5	479	1	0	1	0	1	0	0	0	0	13822	1725	60	0	6454	0	RTTN	18	67869207	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	4377243	67869207	10208041	469	92364											
ZNF516	9658	broad.mit.edu	37	chr18	74091541	74091541	+	Frame_Shift_Del	DEL	C	C	-																															ccacttttggaccccggcatCccccctggcacctgagtgcg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:74091541delC	ENST00000443185.2	-	4	2846	c.2529delG	c.(2527-2529)ggfs	p.G843fs	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACCCCGGCATCCCCCCTGGCA	0.637													37	83	---	---	---	---					-	74091541	C	-	74091541	7	5	479	1	0	1	0	1	0	0	0	0	18055	842	30	0	979	0	ZNF516	18	74091541	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	6222334	74091541	3985707	470	92365											
C19orf25	148223	broad.mit.edu	37	chr19	1475023	1475023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcccaagcctgcaggccCcgagaggtcagcctgaggag	8	4	15	14	1	1	2	1	1	0	1	1	4	1	3	5	3	4	2	5	3	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:1475023C>A	ENST00000588871.1	-	4	307	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	C19orf25_ENST00000427685.2_3'UTR|C19orf25_ENST00000436106.2_3'UTR|C19orf25_ENST00000592872.1_3'UTR|C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000586564.1_3'UTR|C19orf25_ENST00000585675.1_3'UTR|C19orf25_ENST00000588849.1_3'UTR	NM_152482.2	NP_689695.2	Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25	0							protein binding						Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGGCCCCGAGAGGTCA	0.701													3	10					6.4e-05	6.84579e-05	1	0	A	1475023	C	A	1475023	3	1	479	1	0	0	0	0	1	0	0	0	1933	638	22	4		4	C19orf25	19	1475023	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08		1475023	57653960	471	92366											
MKNK2	2872	broad.mit.edu	37	chr19	2037829	2037829	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagtgactgtcccacCttcagaaaaaaaaaaaaaaa	21	5	8	7	0	1	2	1	1	0	1	2	4	2	4	2	2	0	0	2	2	8	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:2037829C>A	ENST00000309340.7	-	14	1379		c.e14-1		MKNK2_ENST00000591601.1_3'UTR|MKNK2_ENST00000250896.3_3'UTR|MKNK2_ENST00000591142.1_Splice_Site	NM_017572.3	NP_060042.2	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2						cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		ACTGTCCCACCTTCAGAAAAA	0.542													13	12					5.01169e-05	5.37978e-05	1	0	A	2037829	C	A	2037829	5	1	479	1	0	0	0	0	0	0	1	0	9674	695	24	4	94	4	MKNK2	19	2037829	Splice_Site	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	562806	2037829	57091154	472	92367											
LINGO3	645191	broad.mit.edu	37	chr19	2291274	2291274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccccgcgaaggcgcGgcgcgagacgaataccaggt	10	2	15	14	7	0	1	0	0	0	1	0	4	0	1	3	3	3	1	3	3	3	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:2291274G>A	ENST00000585527.1	-	1	749	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	LINGO3_ENST00000404279.1_Missense_Mutation_p.R168C			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	168						integral to membrane				lung(1)|urinary_tract(1)	2						GCGAAGGCGCGGCGCGAGACG	0.667													4	59					0	0	0	0	A	2291274	G	A	2291274	3	1	479	1	0	0	0	0	1	0	0	0	8871	1116	39	1	1280	1	LINGO3	19	2291274	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	253445	2291274	56837709	473	92368											
KHSRP	8570	broad.mit.edu	37	chr19	6415897	6415898	+	Frame_Shift_Ins	INS	-	-	C																															gggtactggtgaggagggggINSccccccggcactgcaggaga																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6415897_6415898insC	ENST00000398148.3	-	16	1700_1701	c.1608_1609insG	c.(1606-1611)ggccccfs	p.GP536fs		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	536	Ala/Gly/Pro-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGAGGAGGGGGCCCCCCGGCAC	0.663													5	11	---	---	---	---					C	6415898	-	C	6415897	7	5	479	1	0	1	1	0	0	0	0	0	8202	1203	42	0	546	0	KHSRP	19	6415897	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	4124623	6415897	52713086	474	92369											
DENND1C	79958	broad.mit.edu	37	chr19	6475575	6475575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttcagcaccacgacgtcctCcagggctttttctcgtactc	6	12	8	15	3	2	0	1	0	1	0	6	1	4	0	3	1	2	4	3	1	1	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6475575C>T	ENST00000381480.2	-	13	959	c.847G>A	c.(847-849)Gag>Aag	p.E283K	DENND1C_ENST00000543576.1_Missense_Mutation_p.E239K	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	283	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACGACGTCCTCCAGGGCTTTT	0.627													20	112					0	0	0	0	T	6475575	C	T	6475575	3	4	479	1	0	0	0	0	1	0	0	0	4465	864	30	2	1602	2	DENND1C	19	6475575	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	59678	6475575	52653408	475	92370											
GPR108	56927	broad.mit.edu	37	chr19	6733590	6733590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccgctcaccgtgatgtcGaatggatgctcctttcctgg	6	12	10	13	3	1	1	1	1	0	0	5	3	4	2	4	2	1	2	4	2	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6733590G>A	ENST00000264080.7	-	8	740	c.714C>T	c.(712-714)ttC>ttT	p.F238F	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	238						integral to membrane		p.F238F(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCGTGATGTCGAATGGATGCT	0.622													4	114					0	0	0	0	A	6733590	G	A	6733590	2	1	479	1	0	0	0	0	0	0	0	1	6673	1049	37	1		1	GPR108	19	6733590	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	258015	6733590	52395393	476	92371											
PNPLA6	10908	broad.mit.edu	37	chr19	7605872	7605872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactccacggtgctgcgcCtgccggtggaagcattctcc	5	8	14	14	3	1	0	0	0	1	0	3	2	2	2	4	4	4	2	4	4	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:7605872C>A	ENST00000221249.6	+	10	1173	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	PNPLA6_ENST00000545201.2_Missense_Mutation_p.L248M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L248M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.L296M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.L287M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	287					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGCTGCGCCTGCCGGTGGA	0.692													4	21					0.00909568	0.0092416	1	0	A	7605872	C	A	7605872	3	1	479	1	0	0	0	0	1	0	0	0	12241	680	24	4	916	4	PNPLA6	19	7605872	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	872282	7605872	51523111	477	92372											
KANK3	256949	broad.mit.edu	37	chr19	8398062	8398062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgggctccgcctgagagCgccgctggctggacactcga	6	5	14	16	5	0	1	0	1	0	1	2	4	1	2	4	3	1	3	4	3	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:8398062C>T	ENST00000330915.3	-	7	1837	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H	KANK3_ENST00000593649.1_Missense_Mutation_p.R591H	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	591										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGCCTGAGAGCGCCGCTGGCT	0.687													25	27					0	0	0	0	T	8398062	C	T	8398062	3	4	479	1	0	0	0	0	1	0	0	0	8031	768	27	1	713	1	KANK3	19	8398062	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	792190	8398062	50730921	478	92373											
MARCH2	51257	broad.mit.edu	37	chr19	8491643	8491643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accagctactgcgagctgtgCcacacggagtttgcagtgga	9	8	13	11	2	0	0	0	0	0	0	0	3	0	2	2	2	6	4	2	2	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:8491643C>T	ENST00000602117.1	+	3	782	c.327C>T	c.(325-327)tgC>tgT	p.C109C	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Silent_p.C109C|MARCH2_ENST00000215555.2_Silent_p.C109C|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000393944.1_Silent_p.C109C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	109					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GCGAGCTGTGCCACACGGAGT	0.607													9	50					0	0	0	0	T	8491643	C	T	8491643	2	4	479	1	0	0	0	0	0	0	0	1	9370	747	26	4		4	MARCH2	19	8491643	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	93581	8491643	50637340	479	92374											
OLFM2	93145	broad.mit.edu	37	chr19	9965527	9965527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggcctttgtaatagccatCcatgtaccagacctatggta	10	11	9	11	1	0	1	0	0	0	1	1	1	1	1	5	2	2	3	5	2	5	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:9965527C>A	ENST00000264833.4	-	6	885	c.700G>T	c.(700-702)Gat>Tat	p.D234Y	OLFM2_ENST00000590841.1_Missense_Mutation_p.D156Y	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	234	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TAATAGCCATCCATGTACCAG	0.587													3	16					2.56e-06	2.76888e-06	1	0	A	9965527	C	A	9965527	3	1	479	1	0	0	0	0	1	0	0	0	10924	855	30	2	668	2	OLFM2	19	9965527	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1473884	9965527	49163456	480	92375											
ICAM1	3383	broad.mit.edu	37	chr19	10395480	10395480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcccccgactggacgagaGggattgtccgggaaactgga	9	6	16	10	3	0	1	0	0	0	1	1	7	1	5	3	5	1	0	3	5	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10395480G>T	ENST00000264832.3	+	6	1527	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	ICAM1_ENST00000423829.2_Missense_Mutation_p.R179M|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	401					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CTGGACGAGAGGGATTGTCCG	0.567													7	56					0.0293803	0.029588	1	0	T	10395480	G	T	10395480	3	4	479	1	0	0	0	0	1	0	0	0	7532	1000	35	4	1224	4	ICAM1	19	10395480	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	429953	10395480	48733503	481	92376											
S1PR5	53637	broad.mit.edu	37	chr19	10625610	10625610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctggtagcgcgcaccGcggagcttgccggtgtagtt	4	8	16	13	6	0	0	0	0	0	0	0	1	0	1	3	4	3	6	3	4	2	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10625610G>A	ENST00000439028.3	-	2	203	c.78C>T	c.(76-78)cgC>cgT	p.R26R	S1PR5_ENST00000333430.4_Silent_p.R26R	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	26						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGCGCGCACCGCGGAGCTTGC	0.692													21	30					0	0	0	0	A	10625610	G	A	10625610	2	1	479	1	0	0	0	0	0	0	0	1	13882	1074	38	1		1	S1PR5	19	10625610	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	230130	10625610	48503373	482	92377											
KRI1	65095	broad.mit.edu	37	chr19	10671086	10671086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggaaccgctccccttcAtccaactcagggtcgttcca	8	8	8	17	3	2	0	2	0	0	0	6	1	5	1	5	2	2	3	5	2	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10671086A>G	ENST00000312962.6	-	9	739	c.720T>C	c.(718-720)gaT>gaC	p.D240D	KRI1_ENST00000361821.5_Silent_p.D236D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	240	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCTCCCCTTCATCCAACTCAG	0.552													10	140					0	0	0	0	G	10671086	A	G	10671086	2	3	479	1	0	0	0	0	0	0	0	1	8496	214	8	5		5	KRI1	19	10671086	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	45476	10671086	48457897	483	92378											
KRI1	65095	broad.mit.edu	37	chr19	10673446	10673446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctctcgtagtccttcagGtacatgggccgcactttctt	5	15	8	13	2	3	0	1	0	2	0	6	0	5	0	3	2	1	3	3	2	2	6			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10673446G>A	ENST00000312962.6	-	4	379	c.360C>T	c.(358-360)taC>taT	p.Y120Y	KRI1_ENST00000361821.5_Silent_p.Y116Y|KRI1_ENST00000537964.1_Intron	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	120	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGTCCTTCAGGTACATGGGCC	0.562													45	137					0	0	0	0	A	10673446	G	A	10673446	2	1	479	1	0	0	0	0	0	0	0	1	8496	1256	44	4		4	KRI1	19	10673446	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2360	10673446	48455537	484	92379											
ILF3	3609	broad.mit.edu	37	chr19	10789317	10789317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcaacgaccccccggaCgttctggacaggcagaaatg	11	6	11	13	3	3	1	2	0	1	1	3	4	3	3	3	3	1	2	3	3	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10789317C>T	ENST00000449870.1	+	6	905	c.588C>T	c.(586-588)gaC>gaT	p.D196D	ILF3_ENST00000420083.1_Silent_p.D196D|ILF3_ENST00000407004.3_Silent_p.D196D|ILF3_ENST00000592763.1_Silent_p.D196D|ILF3_ENST00000318511.3_Silent_p.D196D|ILF3_ENST00000590261.1_Silent_p.D196D|ILF3_ENST00000588657.1_Silent_p.D196D|ILF3_ENST00000250241.8_Silent_p.D196D|ILF3_ENST00000589998.1_Silent_p.D196D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	196	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACCCCCCGGACGTTCTGGACA	0.498													29	73					0	0	0	0	T	10789317	C	T	10789317	2	4	479	1	0	0	0	0	0	0	0	1	7765	535	19	1		1	ILF3	19	10789317	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	115871	10789317	48339666	485	92380											
ECSIT	51295	broad.mit.edu	37	chr19	11618561	11618562	+	Frame_Shift_Del	DEL	AC	AC	-																															agctctgaggatgtggtaatAcacacacttgttgcggagcc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:11618561_11618562delAC	ENST00000270517.7	-	6	1035_1036	c.900_901delGT	c.(898-903)gtatfs	p.VY300fs	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.C231fs|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.VY86fs|ECSIT_ENST00000252440.7_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	300					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGTAATACACACACTTGT	0.619													19	70	---	---	---	---					-	11618562	AC	-	11618561	7	5	479	1	0	1	0	1	0	0	0	0	4936	391	14	0	406	0	ECSIT	19	11618561	Frame_Shift_Del	DEL	AC	TCGA-QK-A6VB-01A-12D-A34J-08	829244	11618561	47510422	486	92381											
MAN2B1	4125	broad.mit.edu	37	chr19	12767812	12767812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgtttagctgttggCaaaaggtgaagtgatctttg	9	15	13	4	0	1	3	0	3	1	0	1	3	1	3	0	2	2	5	0	2	4	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12767812C>T	ENST00000456935.2	-	12	1518	c.1478G>A	c.(1477-1479)tGc>tAc	p.C493Y	MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Missense_Mutation_p.C492Y	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	493					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAGCTGTTGGCAAAAGGTGAA	0.627													4	40					0	0	0	0	T	12767812	C	T	12767812	3	4	479	1	0	0	0	0	1	0	0	0	9285	710	25	4	1609	4	MAN2B1	19	12767812	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1149251	12767812	46361171	487	92382											
TNPO2	30000	broad.mit.edu	37	chr19	12830100	12830100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttgagtctggtcaggacGaaaatcaggtagttgttgaa	12	11	13	5	1	3	2	2	2	1	0	3	5	3	3	0	3	0	3	0	3	4	4	rs138981862	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12830100G>A	ENST00000425528.1	-	4	507	c.150C>T	c.(148-150)ttC>ttT	p.F50F	TNPO2_ENST00000441499.1_Silent_p.F50F|TNPO2_ENST00000356861.5_Silent_p.F50F|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000592287.1_Silent_p.F50F|TNPO2_ENST00000588216.1_Silent_p.F50F|TNPO2_ENST00000450764.2_Silent_p.F50F			O14787	TNPO2_HUMAN	transportin 2	50	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTCAGGACGAAAATCAGGT	0.552													15	37					0	0	0	0	A	12830100	G	A	12830100	2	1	479	1	0	0	0	0	0	0	0	1	16430	1049	37	1		1	TNPO2	19	12830100	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	62288	12830100	46298883	488	92383											
BEST2	54831	broad.mit.edu	37	chr19	12864086	12864086	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcagctttgtgctgacCgaagggcagaagcgctactt	8	9	12	12	3	0	2	0	1	0	1	1	3	1	2	2	1	4	5	2	1	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12864086C>T	ENST00000549706.1	+	3	489	c.165C>T	c.(163-165)acC>acT	p.T55T	BEST2_ENST00000042931.1_Silent_p.T55T|BEST2_ENST00000553030.1_Silent_p.T55T			Q8NFU1	BEST2_HUMAN	bestrophin 2	55					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TTGTGCTGACCGAAGGGCAGA	0.562													18	103					0	0	0	0	T	12864086	C	T	12864086	2	4	479	1	0	0	0	0	0	0	0	1	1409	639	23	1		1	BEST2	19	12864086	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	33986	12864086	46264897	489	92384											
C19orf57	79173	broad.mit.edu	37	chr19	14000543	14000543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgtggcctccatcagCggccttcctcctgggagagg	4	9	12	16	1	1	1	1	0	0	1	5	2	5	1	7	4	1	0	7	4	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:14000543C>T	ENST00000454313.1	-	6	1184	c.1126G>A	c.(1126-1128)Gct>Act	p.A376T	C19orf57_ENST00000586783.1_Missense_Mutation_p.A376T|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.A376T			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	376					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCCATCAGCGGCCTTCCTC	0.667													18	43					0	0	0	0	T	14000543	C	T	14000543	3	4	479	1	0	0	0	0	1	0	0	0	1957	768	27	1	799	1	C19orf57	19	14000543	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1136457	14000543	45128440	490	92385											
AKAP8	10270	broad.mit.edu	37	chr19	15483732	15483733	+	Frame_Shift_Ins	INS	-	-	C																															ggtgctgtcatagccgcccgINSccccctgcatgcccatcacg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:15483732_15483733insC	ENST00000269701.2	-	5	850_851	c.790_791insG	c.(790-792)gggfs	p.G264fs		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	264					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ATAGCCGCCCGCCCCCTGCATG	0.708													7	16	---	---	---	---					C	15483733	-	C	15483732	7	5	479	1	0	1	1	0	0	0	0	0	457	1087	38	0	1327	0	AKAP8	19	15483732	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	1483189	15483732	43645251	491	92386											
MYO9B	4650	broad.mit.edu	37	chr19	17309065	17309065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagaagaagccaggcgacGcatcctccctcccagacgca	13	3	10	15	3	0	4	0	0	0	4	3	5	3	4	4	1	1	2	4	1	3	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:17309065G>A	ENST00000595618.1	+	24	4338	c.4186G>A	c.(4186-4188)Gca>Aca	p.A1396T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A1396T|MYO9B_ENST00000594824.1_Missense_Mutation_p.A1396T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1396	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAGGCGACGCATCCTCCCT	0.622													9	61					0	0	0	0	A	17309065	G	A	17309065	3	1	479	1	0	0	0	0	1	0	0	0	10155	1087	38	1	4276	1	MYO9B	19	17309065	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1825333	17309065	41819918	492	92387											
MAST3	23031	broad.mit.edu	37	chr19	18254702	18254702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgccttctcatcagaGgatgagggggtaggcccagg	9	9	15	8	0	2	2	2	1	1	1	3	3	2	3	2	5	1	2	2	5	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:18254702G>T	ENST00000262811.5	+	21	2382	c.2382G>T	c.(2380-2382)gaG>gaT	p.E794D		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	794							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTCATCAGAGGATGAGGGGG	0.632													7	32					2.7689e-08	3.07057e-08	1	0	T	18254702	G	T	18254702	3	4	479	1	0	0	0	0	1	0	0	0	9395	991	35	4	2464	4	MAST3	19	18254702	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	945637	18254702	40874281	493	92388											
UPF1	5976	broad.mit.edu	37	chr19	18964096	18964096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggggatgagatatgcctgCggtacaaaggggaccttgcg	10	7	17	7	2	0	1	0	1	0	1	0	4	0	3	2	5	4	1	2	5	3	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:18964096C>T	ENST00000262803.5	+	8	1365	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	UPF1_ENST00000599848.1_Missense_Mutation_p.R376W	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	376	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GATATGCCTGCGGTACAAAGG	0.567													20	72					0	0	0	0	T	18964096	C	T	18964096	3	4	479	1	0	0	0	0	1	0	0	0	17099	759	27	1	1123	1	UPF1	19	18964096	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	709394	18964096	40164887	494	92389											
ZNF676	163223	broad.mit.edu	37	chr19	22363455	22363455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtatgaataatcttaTgtttagtaaggattgaggat	13	15	9	4	0	1	2	0	2	1	0	2	4	2	4	1	2	0	3	1	2	6	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:22363455T>C	ENST00000397121.2	-	3	1381	c.1064A>G	c.(1063-1065)cAt>cGt	p.H355R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATAATCTTATGTTTAGTAAG	0.388													59	111					0	0	0	0	C	22363455	T	C	22363455	3	2	479	1	0	0	0	0	1	0	0	0	18178	1464	51	5	706	5	ZNF676	19	22363455	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	3399359	22363455	36765528	495	92390											
ZNF492	57615	broad.mit.edu	37	chr19	22846645	22846646	+	Frame_Shift_Ins	INS	-	-	A																															acctttggccaaagcagggcINSaaaaaaaattatttccaaaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:22846645_22846646insA	ENST00000456783.2	+	4	418_419	c.174_175insA	c.(172-177)ggaaaafs	p.GK58fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAGCAGGGCAAAAAAAATTA	0.302													18	14	---	---	---	---					A	22846646	-	A	22846645	7	5	479	1	0	1	1	0	0	0	0	0	18038	697	25	0	184	0	ZNF492	19	22846645	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	483190	22846645	36282338	496	92391											
WTIP	126374	broad.mit.edu	37	chr19	34984431	34984431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcaagtcctaccacccagGctgcttccggtgctccgtgt	5	9	12	15	2	0	0	0	0	0	0	3	0	3	0	5	3	3	4	5	3	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:34984431G>A	ENST00000590071.2	+	5	1272	c.935G>A	c.(934-936)gGc>gAc	p.G312D	WTIP_ENST00000270288.6_Missense_Mutation_p.G536D	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TACCACCCAGGCTGCTTCCGG	0.647													17	71					0	0	0	0	A	34984431	G	A	34984431	3	1	479	1	0	0	0	0	1	0	0	0	17506	1203	42	4	953	4	WTIP	19	34984431	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	12137786	34984431	24144552	497	92392											
ARHGAP33	115703	broad.mit.edu	37	chr19	36277884	36277884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctgcgcccccatctcataCccctgctgctgcgaggagcc	5	7	10	19	2	1	0	1	0	1	0	2	2	1	1	6	1	6	2	6	1	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:36277884C>T	ENST00000007510.4	+	20	2656	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P702S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P677S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	838					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCATCTCATACCCCTGCTGCT	0.701													4	11					0	0	0	0	T	36277884	C	T	36277884	3	4	479	1	0	0	0	0	1	0	0	0	884	507	18	4	2590	4	ARHGAP33	19	36277884	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1293453	36277884	22851099	498	92393											
SPINT2	10653	broad.mit.edu	37	chr19	38780887	38780887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaataagaacagctacCgctctgaggaggcctgcatg	11	6	14	10	1	1	2	0	1	1	1	1	3	1	3	2	4	4	4	2	4	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:38780887C>T	ENST00000301244.7	+	5	955	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	SPINT2_ENST00000587090.1_Missense_Mutation_p.R124C|CTB-102L5.4_ENST00000591889.1_Silent_p.T51T|SPINT2_ENST00000454580.3_Missense_Mutation_p.R117C	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	174	BPTI/Kunitz inhibitor 2.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAACAGCTACCGCTCTGAGGA	0.602													6	34					0	0	0	0	T	38780887	C	T	38780887	3	4	479	1	0	0	0	0	1	0	0	0	15159	652	23	1	538	1	SPINT2	19	38780887	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2503003	38780887	20348096	499	92394											
SPRED3	399473	broad.mit.edu	37	chr19	38886608	38886608	+	Frame_Shift_Del	DEL	C	C	-																															gccgagggcgacttctcggaCccgtgcgcctgcgagccggg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:38886608delC	ENST00000587013.1	+	5	1266	c.1188delC	c.(1186-1188)gafs	p.D396fs	SPRED3_ENST00000586301.1_Frame_Shift_Del_p.D352fs|SPRED3_ENST00000338502.4_Frame_Shift_Del_p.D352fs			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	352	SPR.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTTCTCGGACCCGTGCGCCT	0.761													2	4	---	---	---	---					-	38886608	C	-	38886608	7	5	479	1	0	1	0	1	0	0	0	0	15184	506	18	0	1114	0	SPRED3	19	38886608	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	105721	38886608	20242375	500	92395											
EIF3K	27335	broad.mit.edu	37	chr19	39114838	39114838	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatcgaccaggcacatGtatccttccagcactggggc	9	8	11	13	1	0	1	0	1	0	0	3	2	2	1	3	3	1	4	3	3	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39114838G>A	ENST00000545173.2	+	3	355		c.e3+1		EIF3K_ENST00000248342.4_Splice_Site|EIF3K_ENST00000538434.1_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000593062.1_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K						regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGGCACATGTATCCTTCCA	0.577													7	48					0	0	0	0	A	39114838	G	A	39114838	5	1	479	1	0	0	0	0	0	0	1	0	5059	1391	48	4	290	4	EIF3K	19	39114838	Splice_Site	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	228230	39114838	20014145	501	92396											
HNRNPL	3191	broad.mit.edu	37	chr19	39330917	39330917	+	Frame_Shift_Del	DEL	C	C	-																															gacttgggccccgacggtgaCcccccactggtggacccatc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39330917delC	ENST00000221419.5	-	8	1418	c.1052delG	c.(1051-1053)gtfs	p.G351fs	HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.G218fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	351	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCGACGGTGACCCCCCACTGG	0.692													4	6	---	---	---	---					-	39330917	C	-	39330917	7	5	479	1	0	1	0	1	0	0	0	0	7320	507	18	0	741	0	HNRNPL	19	39330917	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	216079	39330917	19798066	502	92397											
NFKBIB	4793	broad.mit.edu	37	chr19	39398083	39398083	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcatttggcagtggaggcCcaggcagccgatgtgctgga	7	9	15	10	1	1	0	1	0	0	0	1	3	1	2	2	5	2	3	2	5	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39398083C>A	ENST00000392079.3	+	5	755	c.657C>A	c.(655-657)gcC>gcA	p.A219A	NFKBIB_ENST00000572515.1_Silent_p.A251A|NFKBIB_ENST00000313582.5_Silent_p.A251A			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	251					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CAGTGGAGGCCCAGGCAGCCG	0.692													54	75					6.20943e-19	7.49868e-19	1	0	A	39398083	C	A	39398083	2	1	479	1	0	0	0	0	0	0	0	1	10448	610	22	4		4	NFKBIB	19	39398083	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	67166	39398083	19730900	503	92398											
SAMD4B	55095	broad.mit.edu	37	chr19	39870622	39870622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggctttcacggagacgcAgaagaaacggctgctatcct	11	8	11	11	3	1	3	1	0	0	3	2	4	2	3	1	3	2	4	1	3	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39870622A>G	ENST00000314471.6	+	12	2582	c.1547A>G	c.(1546-1548)cAg>cGg	p.Q516R	SAMD4B_ENST00000598913.1_Missense_Mutation_p.Q516R|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	516							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGGAGACGCAGAAGAAACGG	0.527													16	14					0	0	0	0	G	39870622	A	G	39870622	3	3	479	1	0	0	0	0	1	0	0	0	13907	188	7	5	1577	5	SAMD4B	19	39870622	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	472539	39870622	19258361	504	92399											
EGLN2	112398	broad.mit.edu	37	chr19	41307129	41307129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctcaaacggggtgggCgcctgcgagacgggcagcta	8	4	17	12	4	1	1	1	0	0	1	1	2	1	1	2	5	3	2	2	5	2	1	rs140368149		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:41307129C>T	ENST00000593726.1	+	1	1680	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	218					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACGGGGTGGGCGCCTGCGAGA	0.682													64	103					0	0	0	0	T	41307129	C	T	41307129	3	4	479	1	0	0	0	0	1	0	0	0	5005	768	27	1	654	1	EGLN2	19	41307129	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1436507	41307129	17821854	505	92400											
ZNF223	7766	broad.mit.edu	37	chr19	44571320	44571321	+	Frame_Shift_Ins	INS	-	-	A																															gtcataccgtaaagaccaacINSaaaaaaaccacagtggagaa																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:44571320_44571321insA	ENST00000591793.1	+	7	1752_1753	c.1669_1670insA	c.(1669-1671)aaafs	p.K557fs	ZNF223_ENST00000434772.3_Frame_Shift_Ins_p.K447fs			Q9UK11	ZN223_HUMAN	zinc finger protein 223	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TAAAGACCAACAAAAAAACCAC	0.356													44	134	---	---	---	---					A	44571321	-	A	44571320	7	5	479	1	0	1	1	0	0	0	0	0	17872	479	17	0	1353	0	ZNF223	19	44571320	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	3264191	44571320	14557663	506	92401											
ZNF284	342909	broad.mit.edu	37	chr19	44590835	44590835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaaacaacattcaagtgcGacggatgtgggaagagattt	15	8	13	5	2	1	2	1	0	0	2	1	7	1	4	0	2	3	0	0	2	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:44590835G>A	ENST00000421176.3	+	5	1420	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATTCAAGTGCGACGGATGTGG	0.433													14	150					0	0	0	0	A	44590835	G	A	44590835	3	1	479	1	0	0	0	0	1	0	0	0	17916	1058	37	1	1218	1	ZNF284	19	44590835	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	19515	44590835	14538148	507	92402											
FBXO46	23403	broad.mit.edu	37	chr19	46215882	46215882	+	Frame_Shift_Del	DEL	G	G	-																															ccccaggacctgggctgccaGggtaggcacaaccaggcctg																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:46215882delG	ENST00000317683.3	-	2	1005	c.872delC	c.(871-873)ctfs	p.P291fs		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	291							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGGGCTGCCAGGGTAGGCACA	0.682													29	33	---	---	---	---					-	46215882	G	-	46215882	7	5	479	1	0	1	0	1	0	0	0	0	5800	1000	35	0	943	0	FBXO46	19	46215882	Frame_Shift_Del	DEL	G	TCGA-QK-A6VB-01A-12D-A34J-08	1625047	46215882	12913101	508	92403											
GRIN2D	2906	broad.mit.edu	37	chr19	48922549	48922549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcctcactgtggtcgcCgtcactgttttcatcttcga	5	15	9	12	3	4	0	3	0	1	0	6	1	4	0	2	1	1	1	2	1	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:48922549C>T	ENST00000263269.3	+	8	1882	c.1794C>T	c.(1792-1794)gcC>gcT	p.A598A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	598						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTGTGGTCGCCGTCACTGTTT	0.602													4	60					0	0	0	0	T	48922549	C	T	48922549	2	4	479	1	0	0	0	0	0	0	0	1	6832	639	23	1		1	GRIN2D	19	48922549	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2706667	48922549	10206434	509	92404											
GRIN2D	2906	broad.mit.edu	37	chr19	48922967	48922967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatcatggtgctggtgtggGccttcttcgccgtcatcttc	5	14	11	11	2	4	0	2	0	2	0	6	0	4	0	2	3	1	1	2	3	1	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:48922967G>A	ENST00000263269.3	+	9	2075	c.1987G>A	c.(1987-1989)Gcc>Acc	p.A663T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	663						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCTGGTGTGGGCCTTCTTCGC	0.587													42	149					0	0	0	0	A	48922967	G	A	48922967	3	1	479	1	0	0	0	0	1	0	0	0	6832	1203	42	4	2017	4	GRIN2D	19	48922967	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	418	48922967	10206016	510	92405											
NTN5	126147	broad.mit.edu	37	chr19	49167847	49167847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcacctctgcaggccCtgcggctgaagataggctgg	8	7	12	14	1	2	2	1	1	1	1	2	2	2	2	2	4	2	3	2	4	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:49167847C>A	ENST00000270235.4	-	3	904	c.809G>T	c.(808-810)aGg>aTg	p.R270M	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	270	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TCTGCAGGCCCTGCGGCTGAA	0.672													4	39					0.00909568	0.0092416	1	0	A	49167847	C	A	49167847	3	1	479	1	0	0	0	0	1	0	0	0	10774	681	24	4	680	4	NTN5	19	49167847	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	244880	49167847	9961136	511	92406											
TRPM4	54795	broad.mit.edu	37	chr19	49671906	49671906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttcttcctggtggacGacggcacacacggctgcctg	5	8	13	15	4	1	0	0	0	1	0	2	2	2	1	3	5	1	2	3	5	0	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:49671906G>T	ENST00000252826.5	+	6	835	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	TRPM4_ENST00000427978.2_Missense_Mutation_p.D237Y|TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	237					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTGGTGGACGACGGCACACA	0.652													22	16					2.37509e-13	2.77988e-13	1	0	T	49671906	G	T	49671906	3	4	479	1	0	0	0	0	1	0	0	0	16683	1058	37	3	731	3	TRPM4	19	49671906	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	504059	49671906	9457077	512	92407											
MYBPC2	4606	broad.mit.edu	37	chr19	50962564	50962564	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccgcatccgcgttgtggGtgcgcgcgctggggagggcc	3	7	18	13	6	0	0	0	0	0	0	2	1	2	1	3	4	1	3	3	4	0	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:50962564G>A	ENST00000357701.5	+	23	2842		c.e23+1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGCGTTGTGGGTGCGCGCGCT	0.687													24	28					0	0	0	0	A	50962564	G	A	50962564	5	1	479	1	0	0	0	0	0	0	1	0	10082	1275	44	4	2882	4	MYBPC2	19	50962564	Splice_Site	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	1290658	50962564	8166419	513	92408											
ZNF175	7728	broad.mit.edu	37	chr19	52091373	52091373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgtgggaaggccttcAacggcaggtcaaatttccat	11	10	11	9	1	2	1	2	1	0	0	3	2	3	2	2	4	1	1	2	4	4	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52091373A>G	ENST00000262259.2	+	5	2147	c.1789A>G	c.(1789-1791)Aac>Gac	p.N597D	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	597					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GAAGGCCTTCAACGGCAGGTC	0.433													27	162					0	0	0	0	G	52091373	A	G	52091373	3	3	479	1	0	0	0	0	1	0	0	0	17840	130	5	5	1803	5	ZNF175	19	52091373	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	1128809	52091373	7037610	514	92409											
ZNF432	9668	broad.mit.edu	37	chr19	52538321	52538321	+	Frame_Shift_Del	DEL	T	T	-																															cacattcactgcatacgtggTttttttctatttcatgagtt																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52538321delT	ENST00000594154.1	-	5	823	c.611delA	c.(610-612)acfs	p.N204fs	ZNF432_ENST00000221315.5_Frame_Shift_Del_p.N204fs			O94892	ZN432_HUMAN	zinc finger protein 432	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCATACGTGGTTTTTTTCTAT	0.383													79	136	---	---	---	---					-	52538321	T	-	52538321	7	5	479	1	0	1	0	1	0	0	0	0	18001	1725	60	0	1351	0	ZNF432	19	52538321	Frame_Shift_Del	DEL	T	TCGA-QK-A6VB-01A-12D-A34J-08	446948	52538321	6590662	515	92410											
ZNF480	147657	broad.mit.edu	37	chr19	52825659	52825659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttattcaaaattcgcacCtagcacaacattggagaatt	14	13	5	9	1	2	1	1	0	1	1	3	2	2	1	1	1	2	2	1	1	6	7			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52825659C>A	ENST00000595962.1	+	5	1222	c.1156C>A	c.(1156-1158)Cta>Ata	p.L386I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.L309I|ZNF480_ENST00000334564.7_Missense_Mutation_p.L343I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AAATTCGCACCTAGCACAACA	0.358													20	78					1.01871e-10	1.16834e-10	1	0	A	52825659	C	A	52825659	3	1	479	1	0	0	0	0	1	0	0	0	18030	680	24	4	1170	4	ZNF480	19	52825659	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	287338	52825659	6303324	516	92411											
ZNF808	388558	broad.mit.edu	37	chr19	53058406	53058406	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcaagacgttcagtcAgaaggcaacccttctatgcc	11	8	10	12	1	3	2	2	0	1	2	3	2	3	2	2	1	4	4	2	1	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:53058406A>G	ENST00000359798.4	+	5	2417	c.2237A>G	c.(2236-2238)cAg>cGg	p.Q746R		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	746					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACGTTCAGTCAGAAGGCAACC	0.458													31	267					0	0	0	0	G	53058406	A	G	53058406	3	3	479	1	0	0	0	0	1	0	0	0	18266	188	7	5	2247	5	ZNF808	19	53058406	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	232747	53058406	6070577	517	92412											
NLRP8	126205	broad.mit.edu	37	chr19	56466043	56466043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagacagcccaagaccgtgGccatacagggagctcctggg	10	5	14	12	1	0	2	0	0	0	2	1	3	1	3	4	3	3	2	4	3	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:56466043G>A	ENST00000291971.3	+	3	690	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A207T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	207	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAAGACCGTGGCCATACAGGG	0.542													44	72					0	0	0	0	A	56466043	G	A	56466043	3	1	479	1	0	0	0	0	1	0	0	0	10553	1203	42	4	629	4	NLRP8	19	56466043	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	3407637	56466043	2662940	518	92413											
ZNF835	90485	broad.mit.edu	37	chr19	57175052	57175052	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtcaggcgtgggagcTgggcaaaggcgtcccgaact	8	7	17	9	3	1	1	1	1	0	0	2	3	2	2	1	4	2	3	1	4	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57175052T>C	ENST00000537055.2	-	2	1746	c.1515A>G	c.(1513-1515)ccA>ccG	p.P505P		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCGTGGGAGCTGGGCAAAGGC	0.622													22	178					0	0	0	0	C	57175052	T	C	57175052	2	2	479	1	0	0	0	0	0	0	0	1	18279	1567	55	5		5	ZNF835	19	57175052	Silent	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	709009	57175052	1953931	519	92414											
ZNF304	57343	broad.mit.edu	37	chr19	57866668	57866668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagtcccatgcagttgcGcagttggagggggcagaaaa	10	7	14	10	1	0	1	0	0	0	1	2	2	2	2	2	3	2	5	2	3	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57866668G>A	ENST00000443917.2	+	3	529	c.190G>A	c.(190-192)Gca>Aca	p.A64T	ZNF304_ENST00000598744.1_Intron|ZNF304_ENST00000391705.3_Intron|ZNF304_ENST00000282286.5_Intron			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATGCAGTTGCGCAGTTGGAGG	0.532													17	32					0	0	0	0	A	57866668	G	A	57866668	3	1	479	1	0	0	0	0	1	0	0	0	17928	1102	38	1		1	ZNF304	19	57866668	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	691616	57866668	1262315	520	92415											
ZNF548	147694	broad.mit.edu	37	chr19	57910460	57910460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtacaactaccgactcAtgagacataagcgagttcac	14	10	7	10	2	2	1	2	1	0	1	2	4	2	1	1	0	4	2	1	0	5	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57910460A>G	ENST00000366197.5	+	3	1055	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	ZNF548_ENST00000336128.7_Missense_Mutation_p.M281V|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTACCGACTCATGAGACATAA	0.418													38	45					0	0	0	0	G	57910460	A	G	57910460	3	3	479	1	0	0	0	0	1	0	0	0	18075	217	8	5	855	5	ZNF548	19	57910460	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	43792	57910460	1218523	521	92416											
ZIK1	284307	broad.mit.edu	37	chr19	58101931	58101931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaaagccttccgtggcaAgtactcacttgttcagcacc	9	10	10	12	1	2	0	2	0	0	0	3	1	3	1	3	2	3	4	3	2	3	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:58101931A>G	ENST00000597850.1	+	4	967	c.752A>G	c.(751-753)aAg>aGg	p.K251R	ZIK1_ENST00000599456.1_Missense_Mutation_p.K196R|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.K238R	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCCGTGGCAAGTACTCACTT	0.458													4	87					0	0	0	0	G	58101931	A	G	58101931	3	3	479	1	0	0	0	0	1	0	0	0	17778	72	3	5	766	5	ZIK1	19	58101931	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	191471	58101931	1027052	522	92417											
TRIB3	57761	broad.mit.edu	37	chr20	376920	376920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtgggacaagcacgcGtgcccagcctacgtgggacc	7	6	13	15	3	0	0	0	0	0	0	1	2	1	2	4	2	4	1	4	2	2	1	rs61744723	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:376920G>A	ENST00000217233.3	+	4	1216	c.663G>A	c.(661-663)gcG>gcA	p.A221A	TRIB3_ENST00000422053.2_Silent_p.A248A	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	221	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		ACAAGCACGCGTGCCCAGCCT	0.617													6	74					0	0	0	0	A	376920	G	A	376920	2	1	479	1	0	0	0	0	0	0	0	1	16579	1132	40	1		1	TRIB3	20	376920	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08		376920	62648600	523	92418											
RBCK1	10616	broad.mit.edu	37	chr20	398399	398399	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggactatggcttcccAccagtcttgcagcagtgggt	6	13	11	11	0	2	0	0	0	2	0	3	1	3	1	2	3	2	3	2	3	1	4			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:398399A>G	ENST00000356286.5	+	4	990	c.285A>G	c.(283-285)ccA>ccG	p.P95P	RBCK1_ENST00000353660.3_Silent_p.P53P|RBCK1_ENST00000382181.2_5'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	95	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				ATGGCTTCCCACCAGTCTTGC	0.612													19	52					0	0	0	0	G	398399	A	G	398399	2	3	479	1	0	0	0	0	0	0	0	1	13189	146	6	5		5	RBCK1	20	398399	Silent	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	21479	398399	62627121	524	92419											
UBOX5	22888	broad.mit.edu	37	chr20	3090766	3090766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcactcagaagtggacccGcagcacgtcttggctagcaa	11	7	11	12	2	3	1	2	0	1	1	3	2	3	2	1	2	2	4	1	2	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3090766G>A	ENST00000217173.2	-	5	2083	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.R484W	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	538						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AAGTGGACCCGCAGCACGTCT	0.662													7	136					0	0	0	0	A	3090766	G	A	3090766	3	1	479	1	0	0	0	0	1	0	0	0	16990	1086	38	1	17	1	UBOX5	20	3090766	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2692367	3090766	59934754	525	92420											
FASTKD5	60493	broad.mit.edu	37	chr20	3128920	3128921	+	Frame_Shift_Ins	INS	-	-	A																															gtgcaaattaagataactagINSaaaaaatgtttaaaaaccta																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3128920_3128921insA	ENST00000380266.3	-	2	1117_1118	c.796_797insT	c.(796-798)tagfs	p.*266fs	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	266					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGATAACTAGAAAAAATGTTT	0.401													8	148	---	---	---	---					A	3128921	-	A	3128920	7	5	479	1	0	1	1	0	0	0	0	0	5733	942	33	0	1501	0	FASTKD5	20	3128920	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	38154	3128920	59896600	526	92421											
SLC4A11	83959	broad.mit.edu	37	chr20	3212126	3212126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggtctccaggagcttctgGcggaaggcgatatccgagaa	9	7	15	10	4	2	1	0	0	2	1	4	5	3	3	2	5	1	1	2	5	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3212126G>A	ENST00000380059.3	-	8	1028	c.927C>T	c.(925-927)cgC>cgT	p.R309R	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.R266R|SLC4A11_ENST00000380056.3_Silent_p.R282R	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	282					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGAGCTTCTGGCGGAAGGCGA	0.592													48	97					0	0	0	0	A	3212126	G	A	3212126	2	1	479	1	0	0	0	0	0	0	0	1	14740	1190	42	4		4	SLC4A11	20	3212126	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	83206	3212126	59813394	527	92422											
SPTLC3	55304	broad.mit.edu	37	chr20	13071733	13071733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaattttatgtgcaggcAccttggataagcacaaggag	13	11	11	6	0	0	0	0	0	0	0	0	2	0	2	1	3	2	4	1	3	4	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:13071733A>G	ENST00000399002.2	+	5	884	c.610A>G	c.(610-612)Acc>Gcc	p.T204A	SPTLC3_ENST00000378194.4_Missense_Mutation_p.T204A	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	204					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGTGCAGGCACCTTGGATAA	0.428													42	176					0	0	0	0	G	13071733	A	G	13071733	3	3	479	1	0	0	0	0	1	0	0	0	15215	159	6	5	628	5	SPTLC3	20	13071733	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	9859607	13071733	49953787	528	92423											
RRBP1	6238	broad.mit.edu	37	chr20	17610538	17610538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgtggctgctctgcgtGtggcacagctcccggctgac	3	9	15	14	3	1	1	0	1	1	0	2	1	2	1	1	4	3	5	1	4	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:17610538G>A	ENST00000377813.1	-	9	2982	c.2679C>T	c.(2677-2679)caC>caT	p.H893H	RRBP1_ENST00000360807.4_Silent_p.H460H|RRBP1_ENST00000246043.4_Silent_p.H893H|RRBP1_ENST00000455029.2_Silent_p.H234H|RRBP1_ENST00000377807.2_Silent_p.H460H			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	893					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGCTCTGCGTGTGGCACAGCT	0.711													7	49					0	0	0	0	A	17610538	G	A	17610538	2	1	479	1	0	0	0	0	0	0	0	1	13763	1368	48	4		4	RRBP1	20	17610538	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4538805	17610538	45414982	529	92424											
C20orf26	26074	broad.mit.edu	37	chr20	20180466	20180466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcattacttggttcccGtgcgaccacgacgacagatt	8	11	8	14	4	1	1	1	0	0	1	2	4	2	1	3	1	2	1	3	1	1	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:20180466G>A	ENST00000245957.5	+	17	1928	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	618										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTGGTTCCCGTGCGACCACG	0.532													39	191					0	0	0	0	A	20180466	G	A	20180466	3	1	479	1	0	0	0	0	1	0	0	0	2126	1145	40	1	1946	1	C20orf26	20	20180466	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2569928	20180466	42845054	530	92425											
TP53INP2	58476	broad.mit.edu	37	chr20	33298028	33298028	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggtgcagcggcagaacCgagcccgcgagagccgtccg	8	2	17	14	7	0	2	0	0	0	2	1	4	1	2	4	3	5	2	4	3	1	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:33298028C>A	ENST00000374810.3	+	5	969	c.580C>A	c.(580-582)Cga>Aga	p.R194R	TP53INP2_ENST00000374809.2_Silent_p.R194R|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	194						nucleus				endometrium(1)|urinary_tract(1)	2						GCGGCAGAACCGAGCCCGCGA	0.731													3	22					0.00909568	0.0092416	1	0	A	33298028	C	A	33298028	2	1	479	1	0	0	0	0	0	0	0	1	16484	644	23	3		3	TP53INP2	20	33298028	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	13117562	33298028	29727492	531	92426											
NCOA6	23054	broad.mit.edu	37	chr20	33345817	33345817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctgttcacagagacaGgctgcattgggtgatgtggg	7	13	15	6	0	2	2	1	1	1	1	2	3	2	2	0	3	1	3	0	3	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:33345817G>T	ENST00000374796.2	-	8	3304	c.734C>A	c.(733-735)cCt>cAt	p.P245H	NCOA6_ENST00000359003.2_Missense_Mutation_p.P245H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	245	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACAGAGACAGGCTGCATTGG	0.507													5	154					0.00116845	0.00121758	1	0	T	33345817	G	T	33345817	3	4	479	1	0	0	0	0	1	0	0	0	10303	1000	35	4	5493	4	NCOA6	20	33345817	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	47789	33345817	29679703	532	92427											
DLGAP4	22839	broad.mit.edu	37	chr20	35154314	35154314	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggttctgggacctgctaCagctgtccatcgaggatatc	8	10	12	11	1	1	0	0	0	1	0	4	3	2	2	2	3	3	3	2	3	2	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:35154314C>T	ENST00000373913.3	+	12	3136	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	DLGAP4_ENST00000373907.2_Nonsense_Mutation_p.Q889*|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Nonsense_Mutation_p.Q350*|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.Q889*|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.Q886*			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	889					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGACCTGCTACAGCTGTCCAT	0.602													30	113					0	0	0	0	T	35154314	C	T	35154314	4	4	479	1	0	0	0	0	0	1	0	0	4599	479	17	4	2822	4	DLGAP4	20	35154314	Nonsense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	1808497	35154314	27871206	533	92428											
RPRD1B	58490	broad.mit.edu	37	chr20	36676874	36676874	+	Frame_Shift_Del	DEL	C	C	-																															tggaggactccaagagccctCcccccaaaggtagaaacatc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:36676874delC	ENST00000373433.4	+	3	808	c.406delC	c.(406-408)ccfs	p.P137fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	137										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CAAGAGCCCTCCCCCCAAAGG	0.473													17	122	---	---	---	---					-	36676874	C	-	36676874	7	5	479	1	0	1	0	1	0	0	0	0	13701	855	30	0	416	0	RPRD1B	20	36676874	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	1522560	36676874	26348646	534	92429											
PPP1R16B	26051	broad.mit.edu	37	chr20	37524227	37524227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcatcgacaactttgAggaaattgtgaagctgctcc	10	11	11	9	1	0	2	0	2	0	0	2	4	1	3	1	1	5	4	1	1	3	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:37524227A>T	ENST00000299824.1	+	4	530	c.341A>T	c.(340-342)gAg>gTg	p.E114V	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	114					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GACAACTTTGAGGAAATTGTG	0.612													24	30					0	0	0	0	T	37524227	A	T	37524227	3	4	479	1	0	0	0	0	1	0	0	0	12442	304	11	5	351	5	PPP1R16B	20	37524227	Missense_Mutation	SNP	A	TCGA-QK-A6VB-01A-12D-A34J-08	847353	37524227	25501293	535	92430											
EMILIN3	90187	broad.mit.edu	37	chr20	39993776	39993776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcaggtcacattcctgtgCaccacataggcacagagggc	11	7	11	12	0	1	1	1	0	0	1	2	1	2	1	2	3	2	3	2	3	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:39993776C>T	ENST00000332312.3	-	2	381	c.189G>A	c.(187-189)gtG>gtA	p.V63V		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	63	EMI.					proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CATTCCTGTGCACCACATAGG	0.597													7	67					0	0	0	0	T	39993776	C	T	39993776	2	4	479	1	0	0	0	0	0	0	0	1	5133	697	25	4		4	EMILIN3	20	39993776	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	2469549	39993776	23031744	536	92431											
PLTP	5360	broad.mit.edu	37	chr20	44533677	44533677	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaaggccacatacaccatCcgctcttcctcctgcagctg	9	8	8	16	1	1	1	0	0	1	1	4	2	4	1	5	1	3	3	5	1	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:44533677C>A	ENST00000542937.1	-	8	1380	c.846G>T	c.(844-846)cgG>cgT	p.R282R	PLTP_ENST00000420868.2_Silent_p.R167R|PLTP_ENST00000372420.1_Silent_p.R174R|PLTP_ENST00000372431.3_Silent_p.R262R|PLTP_ENST00000477313.1_Silent_p.R262R|PLTP_ENST00000354050.4_Silent_p.R210R			P55058	PLTP_HUMAN	phospholipid transfer protein	262			R -> Q.		cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CATACACCATCCGCTCTTCCT	0.627													13	93					7.03913e-09	7.86726e-09	1	0	A	44533677	C	A	44533677	2	1	479	1	0	0	0	0	0	0	0	1	12186	842	30	2		2	PLTP	20	44533677	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4539901	44533677	18491843	537	92432											
NFATC2	4773	broad.mit.edu	37	chr20	50139893	50139893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacggcagagccagccacaGgggggtacccagccggggag	9	2	17	13	2	1	1	1	0	0	1	1	2	1	2	4	6	4	2	4	6	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:50139893G>T	ENST00000371564.3	-	2	1106	c.887C>A	c.(886-888)cCt>cAt	p.P296H	NFATC2_ENST00000414705.1_Missense_Mutation_p.P276H|NFATC2_ENST00000396009.3_Missense_Mutation_p.P296H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	296					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCAGCCACAGGGGGGTACCC	0.706													13	39					7.93312e-07	8.62954e-07	1	0	T	50139893	G	T	50139893	3	4	479	1	0	0	0	0	1	0	0	0	10432	1000	35	4	1974	4	NFATC2	20	50139893	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	5606216	50139893	12885627	538	92433											
LAMA5	3911	broad.mit.edu	37	chr20	60887724	60887724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggcggcacgccccccaggTagtaggcgtcggccagctcc	5	4	15	17	5	0	0	0	0	0	0	2	0	1	0	5	5	1	4	5	5	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:60887724T>C	ENST00000252999.3	-	67	9257	c.9191A>G	c.(9190-9192)tAc>tGc	p.Y3064C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3064	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCCCCAGGTAGTAGGCGTC	0.701													4	18					0	0	0	0	C	60887724	T	C	60887724	3	2	479	1	0	0	0	0	1	0	0	0	8662	1638	57	5	1952	5	LAMA5	20	60887724	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08	10747831	60887724	2137796	539	92434											
OGFR	11054	broad.mit.edu	37	chr20	61443806	61443806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctgggagcacttccggcCccgctgcaagttcgtctggg	4	8	14	15	4	1	0	0	0	1	0	3	1	2	1	4	3	2	4	4	3	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:61443806C>T	ENST00000370461.1	+	5	2960	c.683C>T	c.(682-684)cCc>cTc	p.P228L	OGFR_ENST00000290291.6_Missense_Mutation_p.P280L|OGFR_ENST00000370468.3_Missense_Mutation_p.P280L			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	280					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CACTTCCGGCCCCGCTGCAAG	0.677													3	12					0	0	0	0	T	61443806	C	T	61443806	3	4	479	1	0	0	0	0	1	0	0	0	10914	623	22	4	865	4	OGFR	20	61443806	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	556082	61443806	1581714	540	92435											
DIDO1	11083	broad.mit.edu	37	chr20	61526189	61526189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgacactggcggagagtcCtccagatcggggatggcctc	7	7	14	13	3	0	2	0	0	0	2	5	5	3	3	4	5	0	0	4	5	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:61526189C>T	ENST00000266070.4	-	10	2734	c.2409G>A	c.(2407-2409)gaG>gaA	p.E803E	DIDO1_ENST00000395335.2_Silent_p.E803E|DIDO1_ENST00000395340.1_Silent_p.E803E|DIDO1_ENST00000395343.1_Silent_p.E803E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	803					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGGAGAGTCCTCCAGATCGG	0.468													32	145					0	0	0	0	T	61526189	C	T	61526189	2	4	479	1	0	0	0	0	0	0	0	1	4559	680	24	4		4	DIDO1	20	61526189	Silent	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	82383	61526189	1499331	541	92436											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328715	62328715	+	Frame_Shift_Del	DEL	C	C	-																															aacacgcagtgccagccgtgCcccccaggcaccttctcagc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:62328715delC	ENST00000369996.1	+	2	559	c.459delC	c.(457-459)tgfs	p.C153fs	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	153					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GCCAGCCGTGCCCCCCAGGCA	0.667													13	25	---	---	---	---					-	62328715	C	-	62328715	7	5	479	1	0	1	0	1	0	0	0	0	16392	747	26	0	465	0	TNFRSF6B	20	62328715	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	802526	62328715	696805	542	92437											
CSTB	1476	broad.mit.edu	37	chr21	45194587	45194587	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggctcttgaatgacacGgccttaaacacagggaactt	12	9	9	11	1	1	2	0	2	1	0	1	3	1	3	2	3	2	1	2	3	4	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:45194587G>T	ENST00000291568.5	-	2	295	c.120C>A	c.(118-120)gcC>gcA	p.A40A		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	40						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TGAATGACACGGCCTTAAACA	0.527													20	73					1.28384e-07	1.40729e-07	1	0	T	45194587	G	T	45194587	2	4	479	1	0	0	0	0	0	0	0	1	4014	1103	39	3		3	CSTB	21	45194587	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08		45194587	2935308	543	92438											
PRMT2	3275	broad.mit.edu	37	chr21	48078707	48078707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggatgcctggctgaaGgaggacggggtcatttggcc	6	7	18	10	2	1	1	1	1	0	0	1	4	1	4	3	7	1	1	3	7	1	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:48078707G>T	ENST00000397637.1	+	7	1659	c.705G>T	c.(703-705)aaG>aaT	p.K235N	PRMT2_ENST00000397638.2_Missense_Mutation_p.K235N|PRMT2_ENST00000355680.3_Missense_Mutation_p.K235N|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000451211.2_Missense_Mutation_p.K235N			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	235	Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CCTGGCTGAAGGAGGACGGGG	0.562													12	25					1.61879e-10	1.84542e-10	1	0	T	48078707	G	T	48078707	3	4	479	1	0	0	0	0	1	0	0	0	12617	991	35	4	727	4	PRMT2	21	48078707	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	2884120	48078707	51188	544	92439											
POTEH	23784	broad.mit.edu	37	chr22	16287774	16287774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgttgctcttgccgcTccccctgcaccaggcgaagc	5	7	10	19	3	1	0	0	0	1	0	2	1	2	0	5	1	4	4	5	1	1	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:16287774T>C	ENST00000343518.6	-	1	163	c.112A>G	c.(112-114)Agc>Ggc	p.S38G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	38										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.592													5	364					0	0	0	0	C	16287774	T	C	16287774	3	2	479	1	0	0	0	0	1	0	0	0	12339	1551	54	5	1565	5	POTEH	22	16287774	Missense_Mutation	SNP	T	TCGA-QK-A6VB-01A-12D-A34J-08		16287774	35016792	545	92440											
ZNF70	7621	broad.mit.edu	37	chr22	24087058	24087058	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaaggtttgtccgaaGagctcatcatcctggggtct	8	11	14	8	1	3	1	2	0	1	1	5	4	5	3	2	5	1	2	2	5	2	1			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:24087058G>T	ENST00000341976.3	-	2	730	c.270C>A	c.(268-270)ctC>ctA	p.L90L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	90						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTTGTCCGAAGAGCTCATCAT	0.498													26	108					3.73148e-12	4.32305e-12	1	0	T	24087058	G	T	24087058	2	4	479	1	0	0	0	0	0	0	0	1	18198	929	33	2		2	ZNF70	22	24087058	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	7799284	24087058	27217508	546	92441											
DUSP18	150290	broad.mit.edu	37	chr22	31059498	31059498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggggaactgaccatgtGcacagtgttcttgccaaaca	11	9	10	11	0	1	1	0	1	1	0	1	2	1	2	2	2	4	2	2	2	2	2	rs71788033		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:31059498G>A	ENST00000334679.3	-	2	998	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	DUSP18_ENST00000407308.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000404885.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_3'UTR	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	165						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CTGACCATGTGCACAGTGTTC	0.532													14	62					0	0	0	0	A	31059498	G	A	31059498	3	1	479	1	0	0	0	0	1	0	0	0	4853	1319	46	4	77	4	DUSP18	22	31059498	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	6972440	31059498	20245068	547	92442											
DRG1	4733	broad.mit.edu	37	chr22	31829860	31829860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcccttccatgcagtgCtctggtctggggtctctctg	2	17	10	12	0	4	0	0	0	4	0	7	0	6	0	2	3	2	2	2	3	0	3			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:31829860C>A	ENST00000331457.4	+	9	1168	c.1007C>A	c.(1006-1008)gCt>gAt	p.A336D		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	336					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CCATGCAGTGCTCTGGTCTGG	0.438													20	30					6.33239e-15	7.48851e-15	1	0	A	31829860	C	A	31829860	3	1	479	1	0	0	0	0	1	0	0	0	4797	797	28	4	1041	4	DRG1	22	31829860	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	770362	31829860	19474706	548	92443											
MYH9	4627	broad.mit.edu	37	chr22	36722689	36722689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttggtgttctccgtcttgCcagctccagattcaccacta	6	14	7	14	1	4	1	1	0	3	1	6	1	5	1	4	1	2	2	4	1	1	5			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:36722689C>T	ENST00000216181.5	-	5	766	c.536G>A	c.(535-537)gGc>gAc	p.G179D	MYH9_ENST00000401701.1_Missense_Mutation_p.G179D	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	179	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCGTCTTGCCAGCTCCAGA	0.582			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				27	57					0	0	0	0	T	36722689	C	T	36722689	3	4	479	1	0	0	0	0	1	0	0	0	10112	739	26	4	5494	4	MYH9	22	36722689	Missense_Mutation	SNP	C	TCGA-QK-A6VB-01A-12D-A34J-08	4892829	36722689	14581877	549	92444											
SGSM3	27352	broad.mit.edu	37	chr22	40802507	40802507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgctatcggatatcccgtcGcagatggaggacgcggagct	9	7	14	11	6	0	1	0	0	0	1	3	5	1	5	1	4	1	3	1	4	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:40802507G>A	ENST00000248929.9	+	10	1215	c.1026G>A	c.(1024-1026)tcG>tcA	p.S342S	SGSM3_ENST00000454798.2_Silent_p.S275S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	342					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ATATCCCGTCGCAGATGGAGG	0.642													11	28					0	0	0	0	A	40802507	G	A	40802507	2	1	479	1	0	0	0	0	0	0	0	1	14311	1074	38	1		1	SGSM3	22	40802507	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	4079818	40802507	10502059	550	92445											
KLHDC7B	113730	broad.mit.edu	37	chr22	50988067	50988068	+	Frame_Shift_Ins	INS	-	-	G																															tccagcgacatcgtggcactINSggggggcttcctgtaccgct																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:50988067_50988068insG	ENST00000395676.2	+	1	1606_1607	c.1472_1473insG	c.(1471-1473)cggfs	p.R491fs		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	491										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCGTGGCACTGGGGGGCTTCC	0.668													23	92	---	---	---	---					G	50988068	-	G	50988067	7	5	479	1	0	1	1	0	0	0	0	0	8413	1580	55	0	1474	0	KLHDC7B	22	50988067	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	10185560	50988067	316499	551	92446											
WWC3	55841	broad.mit.edu	37	chrX	10085539	10085539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcctcacgggactcgccGctggcgcagctggcggacag	5	5	15	16	5	1	0	1	0	0	0	2	2	1	2	3	4	2	3	3	4	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:10085539G>A	ENST00000380861.4	+	11	1831	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	WWC3_ENST00000454666.1_Silent_p.P480P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	480										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGGACTCGCCGCTGGCGCAGC	0.701													17	2					0	0	0	0	A	10085539	G	A	10085539	2	1	479	1	0	0	0	0	0	0	0	1	17509	1074	38	1		1	WWC3	23	10085539	Silent	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08		10085539	145185021	552	92447											
MAP3K15	389840	broad.mit.edu	37	chrX	19389133	19389133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatgatgttgtccatcGcgaacatccagtggggccta	8	9	14	10	3	0	1	0	1	0	0	3	3	2	2	3	4	1	1	3	4	2	2			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:19389133G>A	ENST00000338883.4	-	24	3343	c.3344C>T	c.(3343-3345)gCg>gTg	p.A1115V	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A947V|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A550V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1115							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTTGTCCATCGCGAACATCCA	0.433													12	51					0	0	0	0	A	19389133	G	A	19389133	3	1	479	1	0	0	0	0	1	0	0	0	9318	1087	38	1	621	1	MAP3K15	23	19389133	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	9303594	19389133	135881427	553	92448											
UBQLN2	29978	broad.mit.edu	37	chrX	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-																															aggacccactggccctgcagCcccccctggctccaccggct																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:56591874delC	ENST00000338222.5	+	1	1849	c.1568delC	c.(1567-1569)gcfs	p.A523fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding	p.P525fs*71(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGCCCTGCAGCCCCCCCTGGC	0.642													8	10	---	---	---	---					-	56591874	C	-	56591874	7	5	479	1	0	1	0	1	0	0	0	0	16993	739	26	0	1570	0	UBQLN2	23	56591874	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	37202741	56591874	98678686	554	92449											
FAM133A	286499	broad.mit.edu	37	chrX	92964568	92964569	+	Frame_Shift_Ins	INS	-	-	A																															taaagaaacaattagaaaatINSaaaaaaacaggttcaaaagc																										TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:92964568_92964569insA	ENST00000538690.1	+	5	711_712	c.150_151insA	c.(148-153)aaaaaafs	p.KK50fs	FAM133A_ENST00000322139.4_Frame_Shift_Ins_p.KK50fs|FAM133A_ENST00000355813.5_Frame_Shift_Ins_p.KK50fs|FAM133A_ENST00000332647.4_Frame_Shift_Ins_p.KK50fs	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	50	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AATTAGAAAATAAAAAAACAGG	0.351													15	17	---	---	---	---					A	92964569	-	A	92964568	7	5	479	1	0	1	1	0	0	0	0	0	5484	1403	49	0	152	0	FAM133A	23	92964568	Frame_Shift_Ins	INS	-	TCGA-QK-A6VB-01A-12D-A34J-08	36372694	92964568	62305992	555	92450											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-																															tggaggcttggacgacagatCccccccaggctcctctgaga																								rs137862942		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:129190011delC	ENST00000540052.1	+	12	5080	c.5036delC	c.(5035-5037)tcfs	p.S1679fs	BCORL1_ENST00000218147.7_Frame_Shift_Del_p.S1679fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.S1549fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.S1753fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACGACAGATCCCCCCCAGGC	0.602													48	11	---	---	---	---					-	129190011	C	-	129190011	7	5	479	1	0	1	0	1	0	0	0	0	1391	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-QK-A6VB-01A-12D-A34J-08	36225443	129190011	26080549	556	92451											
PLXNA3	55558	broad.mit.edu	37	chrX	153694099	153694099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatctcagagcacaggtGccagctgcggacccactgcc	8	6	12	15	1	1	1	1	0	1	1	2	2	1	2	3	2	6	3	3	2	0	0			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:153694099G>A	ENST00000369682.3	+	13	2616	c.2441G>A	c.(2440-2442)tGc>tAc	p.C814Y		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	814					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCACAGGTGCCAGCTGCGG	0.672													28	25					0	0	0	0	A	153694099	G	A	153694099	3	1	479	1	0	0	0	0	1	0	0	0	12193	1319	46	4	2487	4	PLXNA3	23	153694099	Missense_Mutation	SNP	G	TCGA-QK-A6VB-01A-12D-A34J-08	24504088	153694099	1576461	557	92452											
VWA1	64856	broad.mit.edu	37	chr1	1372561	1372561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctgcccagcgcatgggtGacacccacactggcctggcg	6	7	12	16	2	1	1	0	1	1	0	1	1	1	1	3	3	2	1	3	3	0	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:1372561G>A	ENST00000476993.1	+	2	406	c.328G>A	c.(328-330)Gac>Aac	p.D110N	VWA1_ENST00000404702.3_Intron|VWA1_ENST00000338660.5_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	110	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGCATGGGTGACACCCACAC	0.652													3	17					0	0	0	0	A	1372561	G	A	1372561	3	1	480	1	0	0	0	0	1	0	0	0	17334	1290	45	2	334	2	VWA1	1	1372561	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		1372561	247878060	1	92453											
SEPN1	57190	broad.mit.edu	37	chr1	26135118	26135118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaactggacagccgccgcCtcaccaagtgcagtgtttgc	9	7	11	14	3	1	0	1	0	0	0	1	2	1	1	4	1	4	2	4	1	2	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:26135118C>T	ENST00000361547.2	+	5	640	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SEPN1_ENST00000354177.4_Silent_p.A161A|SEPN1_ENST00000374315.1_Silent_p.A161A	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	195						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCGCCGCCTCACCAAGTG	0.662													24	78					0	0	0	0	T	26135118	C	T	26135118	2	4	480	1	0	0	0	0	0	0	0	1	14143	668	24	4		4	SEPN1	1	26135118	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	24762557	26135118	223115503	2	92454											
CCDC28B	79140	broad.mit.edu	37	chr1	32670262	32670262	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctatgtgtgtgtgttcctGagaggtcagtttcctcctct	4	17	11	9	0	3	1	1	1	2	1	6	2	6	1	3	1	0	2	3	1	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:32670262G>C	ENST00000421922.2	+	5	689	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGTGTTCCTGAGAGGTCAGT	0.493													15	174					0	0	0	0	C	32670262	G	C	32670262	3	2	480	1	0	0	0	0	1	0	0	0	2829	1305	45	2		2	CCDC28B	1	32670262	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	6535144	32670262	216580359	3	92455											
MTF1	4520	broad.mit.edu	37	chr1	38287971	38287971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagtctggaccatggctGgcaggggctcagtagtactt	8	9	15	9	0	2	1	1	0	1	1	2	2	2	2	1	5	1	6	1	5	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:38287971G>T	ENST00000373036.4	-	9	1729	c.1589C>A	c.(1588-1590)cCa>cAa	p.P530Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	530						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GACCATGGCTGGCAGGGGCTC	0.567													4	40					0.184627	0.185941	1	0	T	38287971	G	T	38287971	3	4	480	1	0	0	0	0	1	0	0	0	9992	1348	47	4	684	4	MTF1	1	38287971	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	5617709	38287971	210962650	4	92456											
MACF1	23499	broad.mit.edu	37	chr1	39806526	39806526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggccgacttcaagatctGagagcctgggttggcaataa	12	8	13	8	1	2	2	1	1	1	2	2	5	2	2	2	3	1	2	2	3	4	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:39806526G>A	ENST00000564288.1	+	40	11259	c.10482G>A	c.(10480-10482)ctG>ctA	p.L3494L	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.L3531L|MACF1_ENST00000289893.4_Silent_p.L1934L|MACF1_ENST00000372915.3_Silent_p.L3499L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3499					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCAAGATCTGAGAGCCTGGG	0.418													7	65					0	0	0	0	A	39806526	G	A	39806526	2	1	480	1	0	0	0	0	0	0	0	1	9209	1277	45	2		2	MACF1	1	39806526	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1518555	39806526	209444095	5	92457											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703972	52703972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagatgaggacctcactGgcaaaatcagctctcctagg	12	8	9	12	0	3	2	2	1	1	1	4	3	3	3	3	3	2	2	3	3	4	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:52703972G>T	ENST00000287727.3	+	4	1055	c.883G>T	c.(883-885)Ggc>Tgc	p.G295C	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.G295C|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.G295C|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G295C	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	295					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGACCTCACTGGCAAAATCAG	0.443													17	118					9.16793e-09	1.03367e-08	1	0	T	52703972	G	T	52703972	3	4	480	1	0	0	0	0	1	0	0	0	17766	1348	47	4	889	4	ZFYVE9	1	52703972	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	12897446	52703972	196546649	6	92458											
C8B	732	broad.mit.edu	37	chr1	57425789	57425789	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccacactccgcatctgTctgctcttagcaaagctctt	9	12	5	15	1	4	0	0	0	4	0	6	0	6	0	2	0	3	4	2	0	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:57425789T>C	ENST00000371237.4	-	2	219	c.153A>G	c.(151-153)agA>agG	p.R51R	C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_5'UTR|C8B_ENST00000494324.1_5'UTR	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	51					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCGCATCTGTCTGCTCTTAG	0.463													4	73					0	0	0	0	C	57425789	T	C	57425789	2	2	480	1	0	0	0	0	0	0	0	1	2440	1664	58	5		5	C8B	1	57425789	Silent	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	4721817	57425789	191824832	7	92459											
PDE4B	5142	broad.mit.edu	37	chr1	66384409	66384409	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttaccaccactgtctcaaAgacagagtgaaagggcaagg	15	6	11	9	0	1	3	1	1	1	2	2	3	1	3	2	2	1	2	2	2	4	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:66384409A>C	ENST00000329654.4	+	3	359	c.172A>C	c.(172-174)Aga>Cga	p.R58R	PDE4B_ENST00000371049.3_Silent_p.R58R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	58					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACTGTCTCAAAGACAGAGTGA	0.483													7	60					0	0	0	0	C	66384409	A	C	66384409	2	2	480	1	0	0	0	0	0	0	0	1	11711	64	3	5		5	PDE4B	1	66384409	Silent	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	8958620	66384409	182866212	8	92460											
ANKRD13C	81573	broad.mit.edu	37	chr1	70819809	70819809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacggggttggtgccggccaGaagggccggggactgggagt	7	5	21	8	3	0	1	0	0	0	1	0	3	0	3	3	8	2	1	3	8	2	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:70819809G>C	ENST00000370944.4	-	1	596	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.L95V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	95					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GTGCCGGCCAGAAGGGCCGGG	0.672													9	64					0	0	0	0	C	70819809	G	C	70819809	3	2	480	1	0	0	0	0	1	0	0	0	643	933	33	2	1394	2	ANKRD13C	1	70819809	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	4435400	70819809	178430812	9	92461											
LPPR4	9890	broad.mit.edu	37	chr1	99767356	99767356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttcacatttatcatctgtgGaataatctgcgggctaacac	11	13	7	10	1	4	0	2	0	2	0	4	1	4	1	0	2	2	1	0	2	4	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:99767356G>C	ENST00000370185.3	+	6	1366	c.869G>C	c.(868-870)gGa>gCa	p.G290A	LPPR4_ENST00000370184.1_Missense_Mutation_p.G132A|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		290							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATCATCTGTGGAATAATCTGC	0.388													16	120					0	0	0	0	C	99767356	G	C	99767356	3	2	480	1	0	0	0	0	1	0	0	0	8991	1174	41	2	891	2	LPPR4	1	99767356	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	28947547	99767356	149483265	10	92462											
DRAM2	128338	broad.mit.edu	37	chr1	111662502	111662502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgtaagttcttactttGtcctcggggttccaatggag	8	14	11	8	1	1	1	0	0	1	1	4	2	3	2	2	3	1	3	2	3	3	5	rs78046136		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:111662502G>T	ENST00000286692.4	-	7	1214	c.597C>A	c.(595-597)gaC>gaA	p.D199E	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.D199E			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	199					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						TTCTTACTTTGTCCTCGGGGT	0.333													6	63					0.00116845	0.0012247	1	0	T	111662502	G	T	111662502	3	4	480	1	0	0	0	0	1	0	0	0	4790	1368	48	4	215	4	DRAM2	1	111662502	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	11895146	111662502	137588119	11	92463											
OR10J5	127385	broad.mit.edu	37	chr1	159505570	159505570	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagcattcgtggcacaatGaccagtgtgtacaccgtctc	12	9	9	11	2	1	1	0	1	1	0	3	1	1	1	2	1	2	3	2	1	4	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:159505570G>C	ENST00000334857.2	-	1	272	c.228C>G	c.(226-228)gtC>gtG	p.V76V		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GTGGCACAATGACCAGTGTGT	0.433													24	136					0	0	0	0	C	159505570	G	C	159505570	2	2	480	1	0	0	0	0	0	0	0	1	10983	1277	45	2		2	OR10J5	1	159505570	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	47843068	159505570	89745051	12	92464											
SEC16B	89866	broad.mit.edu	37	chr1	177908869	177908869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccggctcccgaaatatctGagcgagtaggatgaggatcc	10	8	12	11	3	1	2	0	2	1	0	4	6	4	4	3	3	1	2	3	3	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:177908869G>A	ENST00000308284.6	-	18	2260	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	724					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAATATCTGAGCGAGTAGG	0.408													4	13					0	0	0	0	A	177908869	G	A	177908869	3	1	480	1	0	0	0	0	1	0	0	0	14074	1294	45	2	1047	2	SEC16B	1	177908869	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	18403299	177908869	71341752	13	92465											
CEP350	9857	broad.mit.edu	37	chr1	179989910	179989910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaagaagagggagaccagGatggacagccccttttgaaa	14	6	13	8	0	0	5	0	2	0	3	0	8	0	7	3	3	1	0	3	3	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:179989910G>A	ENST00000367607.3	+	12	3419	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1001						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGGAGACCAGGATGGACAGCC	0.408													9	104					0	0	0	0	A	179989910	G	A	179989910	3	1	480	1	0	0	0	0	1	0	0	0	3283	1174	41	2	3043	2	CEP350	1	179989910	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	2081041	179989910	69260711	14	92466											
RNF2	6045	broad.mit.edu	37	chr1	185062311	185062311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgatgagtatgaagctCatcaagagagagtattagcc	13	10	12	6	1	2	5	2	3	0	2	3	6	2	5	1	0	2	3	1	0	5	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:185062311C>A	ENST00000367510.3	+	4	655	c.367C>A	c.(367-369)Cat>Aat	p.H123N	RNF2_ENST00000367509.4_Intron	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	123	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GTATGAAGCTCATCAAGAGAG	0.423													5	70					0.014758	0.0150777	1	0	A	185062311	C	A	185062311	3	1	480	1	0	0	0	0	1	0	0	0	13557	826	29	2	377	2	RNF2	1	185062311	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	5072401	185062311	64188310	15	92467											
ZNF281	23528	broad.mit.edu	37	chr1	200377405	200377405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaaagttaaggtagttttTatctgtattctttctgcttc	9	19	6	7	0	3	0	0	0	3	0	4	0	3	0	0	1	1	5	0	1	5	9			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:200377405T>C	ENST00000294740.2	-	2	1553	c.1429A>G	c.(1429-1431)Aaa>Gaa	p.K477E	ZNF281_ENST00000367352.3_Missense_Mutation_p.K441E|ZNF281_ENST00000367353.1_Missense_Mutation_p.K477E	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	477					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGGTAGTTTTTATCTGTATTC	0.398													8	112					0	0	0	0	C	200377405	T	C	200377405	3	2	480	1	0	0	0	0	1	0	0	0	17913	1763	61	5	1262	5	ZNF281	1	200377405	Missense_Mutation	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	15315094	200377405	48873216	16	92468											
RASSF5	83593	broad.mit.edu	37	chr1	206760287	206760287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactggaggaggccttaagaGaatcccagggcaaacctggg	13	5	14	9	0	0	1	0	0	0	1	1	4	1	3	3	5	2	1	3	5	4	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:206760287G>C	ENST00000304534.8	+	5	1184	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q	RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000355294.4_Missense_Mutation_p.E412Q|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000338603.2_Intron	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	412					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCCTTAAGAGAATCCCAGGG	0.413													7	54					0	0	0	0	C	206760287	G	C	206760287	3	2	480	1	0	0	0	0	1	0	0	0	13171	943	33	2	1380	2	RASSF5	1	206760287	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	6382882	206760287	42490334	17	92469											
PLXNA2	5362	broad.mit.edu	37	chr1	208204977	208204977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacatctgtgtcatggatgCtgtgcctgtctgcctgctca	5	13	11	12	0	4	0	2	0	2	0	4	1	4	1	2	1	4	3	2	1	0	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:208204977C>A	ENST00000367033.3	-	29	5940	c.5183G>T	c.(5182-5184)aGc>aTc	p.S1728I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1728					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCATGGATGCTGTGCCTGTC	0.567													22	110					6.21321e-17	7.17689e-17	1	0	A	208204977	C	A	208204977	3	1	480	1	0	0	0	0	1	0	0	0	12192	797	28	4	517	4	PLXNA2	1	208204977	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1444690	208204977	41045644	18	92470											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159618	242159618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctctgccatggttgcgctCatgctgaccaggctcttgtt	5	14	10	12	1	3	1	1	1	2	0	4	1	3	1	2	2	3	5	2	2	0	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:242159618C>T	ENST00000357246.3	-	4	355	c.291G>A	c.(289-291)atG>atA	p.M97I		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	97					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGTTGCGCTCATGCTGACCA	0.562													16	151					0	0	0	0	T	242159618	C	T	242159618	3	4	480	1	0	0	0	0	1	0	0	0	9302	826	29	2	156	2	MAP1LC3C	1	242159618	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	33954641	242159618	7091003	19	92471											
OR13G1	441933	broad.mit.edu	37	chr1	247835662	247835662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcctcttgccttctaCtgtgcggatacggagaatag	7	12	11	11	2	2	1	0	0	2	1	3	3	3	2	3	3	4	0	3	3	4	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:247835662C>T	ENST00000359688.2	-	1	703	c.682G>A	c.(682-684)Gta>Ata	p.V228I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TTGCCTTCTACTGTGCGGATA	0.453													9	91					0	0	0	0	T	247835662	C	T	247835662	3	4	480	1	0	0	0	0	1	0	0	0	11013	565	20	4	245	4	OR13G1	1	247835662	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	5676044	247835662	1414959	20	92472											
TPO	7173	broad.mit.edu	37	chr2	1507769	1507769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccccctgccacgcctctgcGaggtgcagaaacaccaaagg	10	4	10	17	2	1	1	0	0	1	1	1	2	1	1	6	2	4	1	6	2	2	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:1507769G>A	ENST00000345913.4	+	14	2527	c.2436G>A	c.(2434-2436)gcG>gcA	p.A812A	TPO_ENST00000382198.1_Silent_p.A639A|TPO_ENST00000382201.3_Silent_p.A755A|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.A639A|TPO_ENST00000337415.3_Silent_p.A812A|TPO_ENST00000329066.4_Silent_p.A812A|TPO_ENST00000346956.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	812	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCTCTGCGAGGTGCAGAA	0.622													7	63					0	0	0	0	A	1507769	G	A	1507769	2	1	480	1	0	0	0	0	0	0	0	1	16505	1045	37	1		1	TPO	2	1507769	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		1507769	241691604	21	92473											
KLF11	8462	broad.mit.edu	37	chr2	10188608	10188609	+	Frame_Shift_Del	DEL	TG	TG	-																															tcatcacctctagccaaaacTgtgtccctcaggtagacttt																										TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:10188608_10188609delTG	ENST00000535335.1	+	3	1309_1310	c.1093_1094delTG	c.(1093-1095)tfs	p.C365fs	KLF11_ENST00000305883.1_Frame_Shift_Del_p.C382fs|KLF11_ENST00000540845.1_Frame_Shift_Del_p.C365fs	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	382					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TAGCCAAAACTGTGTCCCTCAG	0.55											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	118	---	---	---	---					-	10188609	TG	-	10188608	7	5	480	1	0	1	0	1	0	0	0	0	8391	1580	55	0	1154	0	KLF11	2	10188608	Frame_Shift_Del	DEL	TG	TCGA-QK-A6VC-01A-23D-A34J-08	8680839	10188608	233010765	22	92474											
KIF3C	3797	broad.mit.edu	37	chr2	26204762	26204762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggccaccaccttgagggcctCgctggccttggtcttactgg	4	10	13	14	1	1	1	0	1	1	0	2	1	1	1	5	5	1	1	5	5	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:26204762C>G	ENST00000264712.3	-	1	604	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	KIF3C_ENST00000405914.1_Missense_Mutation_p.E9Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	9	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGGGCCTCGCTGGCCTTG	0.667													6	64					0	0	0	0	G	26204762	C	G	26204762	3	3	480	1	0	0	0	0	1	0	0	0	8353	893	31	3	2388	3	KIF3C	2	26204762	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	16016154	26204762	216994611	23	92475											
ZNF513	130557	broad.mit.edu	37	chr2	27601563	27601563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatgtcgtgtcaggttgacGagctgggctgaggcgtaggg	6	10	19	6	3	1	2	1	2	0	0	2	3	1	2	0	4	1	5	0	4	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:27601563G>A	ENST00000323703.6	-	3	768	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ZNF513_ENST00000407879.1_Silent_p.L128L|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	190					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGTTGACGAGCTGGGCTG	0.657													7	58					0	0	0	0	A	27601563	G	A	27601563	2	1	480	1	0	0	0	0	0	0	0	1	18053	1045	37	1		1	ZNF513	2	27601563	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1396801	27601563	215597810	24	92476											
SLC30A6	55676	broad.mit.edu	37	chr2	32434586	32434586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaccttagatggagttttaGaagtccgaaatgaacatttt	13	14	8	6	1	0	3	0	1	0	2	1	5	1	4	2	1	2	1	2	1	6	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:32434586G>A	ENST00000282587.5	+	13	878	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	SLC30A6_ENST00000435660.1_Intron|SLC30A6_ENST00000406369.1_Missense_Mutation_p.E207K|SLC30A6_ENST00000357055.3_Missense_Mutation_p.E84K|SLC30A6_ENST00000379343.2_Missense_Mutation_p.E321K|SLC30A6_ENST00000538303.1_Missense_Mutation_p.E252K	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	281						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGAGTTTTAGAAGTCCGAAA	0.328													14	129					0	0	0	0	A	32434586	G	A	32434586	3	1	480	1	0	0	0	0	1	0	0	0	14647	943	33	2	891	2	SLC30A6	2	32434586	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	4833023	32434586	210764787	25	92477											
PPM1B	5495	broad.mit.edu	37	chr2	44445164	44445164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgcccatgtcatgcgcatCttgtctgcagaaaatatccc	9	12	7	13	1	3	1	1	0	2	1	4	1	4	1	2	0	3	2	2	0	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:44445164C>G	ENST00000378551.2	+	4	1435	c.1023C>G	c.(1021-1023)atC>atG	p.I341M	PPM1B_ENST00000409432.3_Missense_Mutation_p.I341M|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Missense_Mutation_p.I54M|PPM1B_ENST00000282412.4_Missense_Mutation_p.I341M	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	341					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCATGCGCATCTTGTCTGCAG	0.388													10	83					0	0	0	0	G	44445164	C	G	44445164	3	3	480	1	0	0	0	0	1	0	0	0	12412	903	32	2	1053	2	PPM1B	2	44445164	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	12010578	44445164	198754209	26	92478											
TTC7A	57217	broad.mit.edu	37	chr2	47287910	47287910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccttctgcttttgcagctGagctgttcatggagcagcag	6	12	12	11	0	2	1	1	1	1	0	2	2	2	2	1	1	6	7	1	1	0	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:47287910G>A	ENST00000319190.5	+	19	2523	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	TTC7A_ENST00000394850.2_Missense_Mutation_p.E743K|TTC7A_ENST00000263737.6_Missense_Mutation_p.E365K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E685K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	719							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTTTGCAGCTGAGCTGTTCAT	0.587													6	89					0	0	0	0	A	47287910	G	A	47287910	3	1	480	1	0	0	0	0	1	0	0	0	16808	1291	45	2	2229	2	TTC7A	2	47287910	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	2842746	47287910	195911463	27	92479											
FSHR	2492	broad.mit.edu	37	chr2	49190661	49190661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccagtttgccagtcaatGgcatagttgtgatattggct	8	13	11	9	0	1	1	1	1	0	0	1	1	1	1	3	2	1	4	3	2	3	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:49190661G>A	ENST00000406846.2	-	10	1418	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	FSHR_ENST00000541117.1_Silent_p.A169A|FSHR_ENST00000304421.4_Silent_p.A407A|FSHR_ENST00000346173.3_Silent_p.A371A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	433					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)	GCCAGTCAATGGCATAGTTGT	0.473									Gonadal Dysgenesis, 46 XX				18	79					0	0	0	0	A	49190661	G	A	49190661	2	1	480	1	0	0	0	0	0	0	0	1	6121	1335	47	4		4	FSHR	2	49190661	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1902751	49190661	194008712	28	92480											
RTKN	6242	broad.mit.edu	37	chr2	74654356	74654356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggtggtttccggggagcagGagtttcaattttcatgattt	7	15	14	5	1	2	1	2	1	0	0	3	3	3	3	1	5	1	3	1	5	1	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:74654356G>C	ENST00000305557.5	-	12	1846	c.1261C>G	c.(1261-1263)Cct>Gct	p.P421A	RTKN_ENST00000233330.6_Missense_Mutation_p.P384A|RTKN_ENST00000272430.5_Missense_Mutation_p.P434A	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	434					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CGGGGAGCAGGAGTTTCAATT	0.502													7	86					0	0	0	0	C	74654356	G	C	74654356	3	2	480	1	0	0	0	0	1	0	0	0	13807	1174	41	2	399	2	RTKN	2	74654356	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	25463695	74654356	168545017	29	92481											
WBP1	23559	broad.mit.edu	37	chr2	74687518	74687518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actttgaaggaacaaatgtgGaaggtgtttcctcccaccag	12	10	10	9	0	0	1	0	1	0	0	2	3	2	3	3	3	1	1	3	3	4	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:74687518G>A	ENST00000393972.3	+	5	825	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	WBP1_ENST00000409737.1_Missense_Mutation_p.E171K|WBP1_ENST00000233615.2_Missense_Mutation_p.E174K|WBP1_ENST00000494741.1_3'UTR			Q96G27	WBP1_HUMAN	WW domain binding protein 1	174							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						AACAAATGTGGAAGGTGTTTC	0.627													14	155					0	0	0	0	A	74687518	G	A	74687518	3	1	480	1	0	0	0	0	1	0	0	0	17353	1175	41	2	534	2	WBP1	2	74687518	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	33162	74687518	168511855	30	92482											
CNNM3	26505	broad.mit.edu	37	chr2	97490833	97490833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgcagaaggtgaacaacGagggtgaaggcgaccccttc	11	6	14	10	3	0	3	0	2	0	1	2	5	0	3	2	3	3	1	2	3	4	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:97490833G>A	ENST00000305510.3	+	2	1292	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	422	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GGTGAACAACGAGGGTGAAGG	0.602													3	32					0	0	0	0	A	97490833	G	A	97490833	3	1	480	1	0	0	0	0	1	0	0	0	3644	1059	37	1	1270	1	CNNM3	2	97490833	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	22803315	97490833	145708540	31	92483											
ACTR1B	10120	broad.mit.edu	37	chr2	98274689	98274689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggcccggccacttacatCaagcgtgctgccgtctggca	7	7	11	16	3	2	0	1	0	1	0	2	0	2	0	4	3	4	2	4	3	2	1	rs151155439		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:98274689C>T	ENST00000289228.5	-	7	964	c.748G>A	c.(748-750)Gat>Aat	p.D250N		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	250						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CCACTTACATCAAGCGTGCTG	0.622													5	37					0	0	0	0	T	98274689	C	T	98274689	3	4	480	1	0	0	0	0	1	0	0	0	210	826	29	2	402	2	ACTR1B	2	98274689	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	783856	98274689	144924684	32	92484											
EIF5B	9669	broad.mit.edu	37	chr2	100015808	100015808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgcactcaaagactggttCagagatgaaatgcagaagag	16	7	12	6	0	2	5	2	1	0	4	2	7	2	5	0	1	2	3	0	1	3	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:100015808C>G	ENST00000289371.5	+	24	3796	c.3594C>G	c.(3592-3594)ttC>ttG	p.F1198L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1198					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGACTGGTTCAGAGATGAAA	0.433													6	83					0	0	0	0	G	100015808	C	G	100015808	3	3	480	1	0	0	0	0	1	0	0	0	5082	825	29	2	3688	2	EIF5B	2	100015808	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1741119	100015808	143183565	33	92485											
IL1R1	3554	broad.mit.edu	37	chr2	102785104	102785104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtgagcccagctaatgaGacaatggaagtagacttggg	13	9	13	6	0	0	3	0	2	0	2	0	5	0	4	1	2	2	2	1	2	4	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:102785104G>C	ENST00000410023.1	+	7	1020	c.702G>C	c.(700-702)gaG>gaC	p.E234D	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.E234D|IL1R1_ENST00000409329.1_Missense_Mutation_p.E234D|IL1R1_ENST00000409929.1_Missense_Mutation_p.E234D|IL1R1_ENST00000233946.3_Missense_Mutation_p.E234D|IL1R1_ENST00000409288.1_Missense_Mutation_p.E234D			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	234	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAGCTAATGAGACAATGGAAG	0.373													15	125					0	0	0	0	C	102785104	G	C	102785104	3	2	480	1	0	0	0	0	1	0	0	0	7711	933	33	2	720	2	IL1R1	2	102785104	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	2769296	102785104	140414269	34	92486											
GPD2	2820	broad.mit.edu	37	chr2	157406233	157406233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaagaagacagaccccCagacagggaaagtgcgtgtg	13	5	13	10	1	1	4	1	0	0	4	1	5	1	5	2	1	2	1	2	1	3	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:157406233C>A	ENST00000310454.6	+	7	1147	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	GPD2_ENST00000438166.2_Missense_Mutation_p.Q259K|GPD2_ENST00000409125.4_Missense_Mutation_p.Q32K|GPD2_ENST00000409674.1_Missense_Mutation_p.Q259K|GPD2_ENST00000540309.1_Missense_Mutation_p.Q259K	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	259					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GACAGACCCCCAGACAGGGAA	0.547													4	51					0.000602214	0.000633556	1	0	A	157406233	C	A	157406233	3	1	480	1	0	0	0	0	1	0	0	0	6655	595	21	4	797	4	GPD2	2	157406233	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	54621129	157406233	85793140	35	92487											
LRP2	4036	broad.mit.edu	37	chr2	170113747	170113747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggacggaaccaatcagtGaagaatagatacctagaaaa	19	5	10	7	1	1	4	1	1	0	3	1	6	1	6	2	2	2	1	2	2	9	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:170113747G>A	ENST00000263816.3	-	18	2811	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	LRP2_ENST00000443831.1_Silent_p.F705F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	842					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCAATCAGTGAAGAATAGAT	0.418													4	56					0	0	0	0	A	170113747	G	A	170113747	2	1	480	1	0	0	0	0	0	0	0	1	9020	1281	45	2		2	LRP2	2	170113747	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	12707514	170113747	73085626	36	92488											
PDE11A	50940	broad.mit.edu	37	chr2	178681637	178681637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgccaagtccacaaaaGatgacaaaagcctaggaaag	18	6	9	8	0	0	3	0	2	0	1	1	4	1	4	3	1	2	0	3	1	7	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:178681637G>A	ENST00000286063.5	-	9	1973	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.I194I|PDE11A_ENST00000409504.1_Silent_p.I194I|PDE11A_ENST00000389683.3_Silent_p.I108I|PDE11A_ENST00000358450.4_Silent_p.I302I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	552	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.I552I(1)|p.I302I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GTCCACAAAAGATGACAAAAG	0.423									Primary Pigmented Nodular Adrenocortical Disease, Familial				7	74					0	0	0	0	A	178681637	G	A	178681637	2	1	480	1	0	0	0	0	0	0	0	1	11702	932	33	2		2	PDE11A	2	178681637	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	8567890	178681637	64517736	37	92489											
TTN	7273	broad.mit.edu	37	chr2	179429174	179429174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtccactcactgtaaattCagtttctaatacgttggtaa	13	14	6	8	1	3	0	2	0	1	0	4	0	4	0	1	1	1	4	1	1	6	7			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:179429174C>T	ENST00000589042.1	-	326	81909	c.81685G>A	c.(81685-81687)Gaa>Aaa	p.E27229K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18356K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24661K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25588K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18164K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18289K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25588	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTAAATTCAGTTTCTAAT	0.378													7	36					0	0	0	0	T	179429174	C	T	179429174	3	4	480	1	0	0	0	0	1	0	0	0	16831	835	29	2	26442	2	TTN	2	179429174	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	747537	179429174	63770199	38	92490											
TTN	7273	broad.mit.edu	37	chr2	179431877	179431877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggcaagtcgactggtttCtcgcttttcaacaacatagt	10	12	8	11	2	2	0	1	0	1	0	4	1	2	0	1	2	2	3	1	2	4	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:179431877C>T	ENST00000589042.1	-	326	79206	c.78982G>A	c.(78982-78984)Gaa>Aaa	p.E26328K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17455K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23760K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24687K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17263K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17388K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24687	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGACTGGTTTCTCGCTTTTCA	0.413													9	132					0	0	0	0	T	179431877	C	T	179431877	3	4	480	1	0	0	0	0	1	0	0	0	16831	922	32	2	29145	2	TTN	2	179431877	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	2703	179431877	63767496	39	92491											
DNAH7	56171	broad.mit.edu	37	chr2	196722214	196722214	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatataattttttcttatGatattcatataagctggagg	13	17	8	3	0	2	1	1	1	1	0	2	3	2	3	0	3	1	1	0	3	7	10			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:196722214G>A	ENST00000312428.6	-	44	8401	c.8301C>T	c.(8299-8301)atC>atT	p.I2767I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2767	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTCTTATGATATTCATAT	0.393													4	80					0	0	0	0	A	196722214	G	A	196722214	2	1	480	1	0	0	0	0	0	0	0	1	4642	1280	45	2		2	DNAH7	2	196722214	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	17290337	196722214	46477159	40	92492											
SGOL2	151246	broad.mit.edu	37	chr2	201400850	201400850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgataactgcaattgaaatGagcagtctttctgaggtaag	13	13	10	5	0	2	4	0	4	2	0	2	4	2	4	0	1	3	3	0	1	4	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:201400850G>A	ENST00000357799.4	+	4	470	c.372G>A	c.(370-372)atG>atA	p.M124I	SGOL2_ENST00000409203.3_Missense_Mutation_p.M124I|SGOL2_ENST00000469840.1_3'UTR	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	124					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAATTGAAATGAGCAGTCTTT	0.308													25	150					0	0	0	0	A	201400850	G	A	201400850	3	1	480	1	0	0	0	0	1	0	0	0	14304	1290	45	2	382	2	SGOL2	2	201400850	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	4678636	201400850	41798523	41	92493											
CDK15	65061	broad.mit.edu	37	chr2	202677239	202677239	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagtggctttaaaagtcatCagcatgaatgcagaggaagg	14	9	12	6	0	2	2	2	1	0	1	2	3	2	3	0	3	2	3	0	3	5	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:202677239C>T	ENST00000450471.2	+	4	488	c.402C>T	c.(400-402)atC>atT	p.I134I	CDK15_ENST00000260967.2_Silent_p.I83I|CDK15_ENST00000434439.1_Silent_p.I134I|CDK15_ENST00000374598.4_Silent_p.I134I|CDK15_ENST00000410091.3_Silent_p.I83I|CDK15_ENST00000488419.1_3'UTR	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	134	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TAAAAGTCATCAGCATGAATG	0.413													11	146					0	0	0	0	T	202677239	C	T	202677239	2	4	480	1	0	0	0	0	0	0	0	1	3160	816	29	2		2	CDK15	2	202677239	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1276389	202677239	40522134	42	92494											
PARD3B	117583	broad.mit.edu	37	chr2	206166297	206166297	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaataaagccaggaaagtCaaaaaaacgaaagagaagga	25	2	10	4	1	1	1	1	0	0	1	1	6	1	3	1	2	2	0	1	2	10	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:206166297C>G	ENST00000406610.2	+	18	2709	c.2502C>G	c.(2500-2502)gtC>gtG	p.V834V	PARD3B_ENST00000358768.2_Silent_p.V772V|PARD3B_ENST00000462231.1_Silent_p.V834V|PARD3B_ENST00000349953.3_Silent_p.V834V|PARD3B_ENST00000351153.1_Silent_p.V765V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	834	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGAAAGTCAAAAAAACga	0.428													12	48					0	0	0	0	G	206166297	C	G	206166297	2	3	480	1	0	0	0	0	0	0	0	1	11515	813	29	2		2	PARD3B	2	206166297	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	3489058	206166297	37033076	43	92495											
INO80D	54891	broad.mit.edu	37	chr2	206884551	206884551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctggttccacctccctCagcttggtccggcttatgct	3	13	10	15	1	1	0	1	0	0	0	4	0	4	0	4	3	3	6	4	3	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:206884551C>T	ENST00000403263.1	-	7	1721	c.1317G>A	c.(1315-1317)ctG>ctA	p.L439L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	439					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CCACCTCCCTCAGCTTGGTCC	0.423													6	22					0	0	0	0	T	206884551	C	T	206884551	2	4	480	1	0	0	0	0	0	0	0	1	7802	813	29	2		2	INO80D	2	206884551	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	718254	206884551	36314822	44	92496											
TTLL4	9654	broad.mit.edu	37	chr2	219602570	219602570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctggaagctggaaaaGaagcaagtggagacactgtc	15	6	12	8	0	1	2	0	0	1	2	2	5	1	4	1	3	2	2	1	3	6	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:219602570G>T	ENST00000392102.1	+	3	511	c.171G>T	c.(169-171)aaG>aaT	p.K57N	TTLL4_ENST00000258398.4_Missense_Mutation_p.K57N|TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Missense_Mutation_p.K57N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	57					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGCTGGAAAAGAAGCAAGTGG	0.582													7	87					2.0095e-06	2.20422e-06	1	0	T	219602570	G	T	219602570	3	4	480	1	0	0	0	0	1	0	0	0	16825	933	33	2	173	2	TTLL4	2	219602570	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	12718019	219602570	23596803	45	92497											
ITPR1	3708	broad.mit.edu	37	chr3	4558249	4558249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcggagggatcgacaaatgGatttattagcaccttggggt	10	10	14	7	3	0	0	0	0	0	0	1	4	0	3	1	5	1	1	1	5	3	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:4558249G>A	ENST00000302640.8	+	3	424	c.74G>A	c.(73-75)gGa>gAa	p.G25E	ITPR1_ENST00000456211.2_Missense_Mutation_p.G25E|ITPR1_ENST00000423119.2_Missense_Mutation_p.G25E|ITPR1_ENST00000357086.4_Missense_Mutation_p.G25E|ITPR1_ENST00000544951.1_Missense_Mutation_p.G25E|ITPR1_ENST00000443694.2_Missense_Mutation_p.G25E|ITPR1_ENST00000354582.6_Missense_Mutation_p.G25E	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	25					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCGACAAATGGATTTATTAGC	0.378													10	123					0	0	0	0	A	4558249	G	A	4558249	3	1	480	1	0	0	0	0	1	0	0	0	7973	1174	41	2	76	2	ITPR1	3	4558249	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		4558249	193464181	46	92498											
CLASP2	23122	broad.mit.edu	37	chr3	33648240	33648240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaaagtggtttctaagacCcatgtatgtcctgttaaaaa	14	12	9	6	0	1	1	0	0	1	1	2	2	2	2	2	2	0	3	2	2	6	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:33648240C>G	ENST00000399362.4	-	16	1890	c.1537G>C	c.(1537-1539)Ggt>Cgt	p.G513R	CLASP2_ENST00000313350.6_Missense_Mutation_p.G286R|CLASP2_ENST00000480013.1_Missense_Mutation_p.G280R|CLASP2_ENST00000461133.3_Missense_Mutation_p.G280R|CLASP2_ENST00000539981.1_Missense_Mutation_p.G265R|CLASP2_ENST00000307312.7_Missense_Mutation_p.G2R|CLASP2_ENST00000468888.2_Missense_Mutation_p.G514R|CLASP2_ENST00000359576.5_Missense_Mutation_p.G513R|CLASP2_ENST00000333778.6_Missense_Mutation_p.G290R|CLASP2_ENST00000487200.1_Missense_Mutation_p.G286R	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	514										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						TTTCTAAGACCCATGTATGTC	0.343													7	94					0	0	0	0	G	33648240	C	G	33648240	3	3	480	1	0	0	0	0	1	0	0	0	3485	623	22	4	3075	4	CLASP2	3	33648240	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	29089991	33648240	164374190	47	92499											
LRRFIP2	9209	broad.mit.edu	37	chr3	37162988	37162988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttaaaataccaaccctgtGactgccaacacttcgaatgg	14	9	7	11	1	0	1	0	1	0	0	1	2	0	1	3	1	4	1	3	1	6	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:37162988G>A	ENST00000421307.1	-	7	747	c.325C>T	c.(325-327)Cac>Tac	p.H109Y	LRRFIP2_ENST00000396428.2_Missense_Mutation_p.H92Y|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.H109Y|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	109	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CCAACCCTGTGACTGCCAACA	0.358													4	53					0	0	0	0	A	37162988	G	A	37162988	3	1	480	1	0	0	0	0	1	0	0	0	9092	1290	45	2	1932	2	LRRFIP2	3	37162988	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3514748	37162988	160859442	48	92500											
LZTFL1	54585	broad.mit.edu	37	chr3	45872573	45872573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctcagttacctgtatttCaatggtcttcaaccttgact	8	18	5	10	0	4	1	3	1	2	0	5	1	4	1	2	1	2	2	2	1	4	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:45872573C>T	ENST00000296135.6	-	6	688	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	LZTFL1_ENST00000539217.1_Missense_Mutation_p.E168K|LZTFL1_ENST00000536047.1_Missense_Mutation_p.E155K|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	172										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACCTGTATTTCAATGGTCTTC	0.279													6	32					0	0	0	0	T	45872573	C	T	45872573	3	4	480	1	0	0	0	0	1	0	0	0	9201	835	29	2	405	2	LZTFL1	3	45872573	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	8709585	45872573	152149857	49	92501											
SCAP	22937	broad.mit.edu	37	chr3	47456604	47456604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgacctctaaactgcaggggGctgagggcagtgtgggtctc	7	8	16	10	1	2	1	0	1	2	0	3	2	2	1	1	4	2	3	1	4	2	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:47456604G>A	ENST00000265565.5	-	19	3535	c.3123C>T	c.(3121-3123)agC>agT	p.S1041S	SCAP_ENST00000441517.2_Silent_p.S785S|SCAP_ENST00000545718.1_Silent_p.S648S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1041	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ACTGCAGGGGGCTGAGGGCAG	0.597													3	34					0	0	0	0	A	47456604	G	A	47456604	2	1	480	1	0	0	0	0	0	0	0	1	13963	1194	42	4		4	SCAP	3	47456604	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1584031	47456604	150565826	50	92502											
DHX30	22907	broad.mit.edu	37	chr3	47889778	47889778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttgttccctcgaagcCggctggagaaaatggtccct	9	9	10	13	2	0	1	0	0	0	1	3	3	2	1	4	3	1	2	4	3	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:47889778C>T	ENST00000446256.2	+	16	2850	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	DHX30_ENST00000457607.1_Missense_Mutation_p.R827W|DHX30_ENST00000445061.1_Missense_Mutation_p.R799W|DHX30_ENST00000348968.4_Missense_Mutation_p.R771W	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	799	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCTCGAAGCCGGCTGGAGAA	0.597													4	51					0	0	0	0	T	47889778	C	T	47889778	3	4	480	1	0	0	0	0	1	0	0	0	4541	643	23	1	2456	1	DHX30	3	47889778	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	433174	47889778	150132652	51	92503											
IMPDH2	3615	broad.mit.edu	37	chr3	49064276	49064276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaggtctgtccgggcaatGatggccacaagctcatcatc	9	10	10	12	1	4	1	3	1	1	0	6	1	5	1	2	3	1	2	2	3	2	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:49064276G>C	ENST00000326739.4	-	7	702	c.663C>G	c.(661-663)atC>atG	p.I221M		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	221	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TCCGGGCAATGATGGCCACAA	0.527													15	163					0	0	0	0	C	49064276	G	C	49064276	3	2	480	1	0	0	0	0	1	0	0	0	7780	1280	45	2	913	2	IMPDH2	3	49064276	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1174498	49064276	148958154	52	92504											
QRICH1	54870	broad.mit.edu	37	chr3	49067981	49067981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcccatctgctctctgctGataggctggactgagtacca	7	12	10	12	0	2	2	0	2	2	0	4	3	3	3	2	2	3	4	2	2	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:49067981G>C	ENST00000395443.2	-	10	2707	c.2235C>G	c.(2233-2235)atC>atG	p.I745M	QRICH1_ENST00000357496.2_Missense_Mutation_p.I745M|QRICH1_ENST00000424300.1_Missense_Mutation_p.I745M	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	745										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCTCTCTGCTGATAGGCTGGA	0.547													3	64					0	0	0	0	C	49067981	G	C	49067981	3	2	480	1	0	0	0	0	1	0	0	0	12961	1280	45	2	99	2	QRICH1	3	49067981	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3705	49067981	148954449	53	92505											
GPR15	2838	broad.mit.edu	37	chr3	98251898	98251898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtcacctcactaaggctCtctccaccttcattcatgca	10	12	4	15	0	5	0	4	0	1	0	7	0	6	0	3	1	1	2	3	1	2	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:98251898C>G	ENST00000284311.3	+	1	1156	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	341						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CACTAAGGCTCTCTCCACCTT	0.488													16	67					0	0	0	0	G	98251898	C	G	98251898	3	3	480	1	0	0	0	0	1	0	0	0	6704	913	32	2	1023	2	GPR15	3	98251898	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	49183917	98251898	99770532	54	92506											
DZIP3	9666	broad.mit.edu	37	chr3	108324266	108324266	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgcagcatggattctctaCcagatgaattttttgtgagg	9	15	11	6	0	1	3	0	2	1	1	2	4	1	4	1	2	3	2	1	2	2	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:108324266C>G	ENST00000361582.3	+	2	243	c.13C>G	c.(13-15)Cca>Gca	p.P5A	DZIP3_ENST00000463306.1_Missense_Mutation_p.P5A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	5					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGATTCTCTACCAGATGAATT	0.423													11	65					0	0	0	0	G	108324266	C	G	108324266	3	3	480	1	0	0	0	0	1	0	0	0	4901	507	18	4	15	4	DZIP3	3	108324266	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	10072368	108324266	89698164	55	92507											
MYLK	4638	broad.mit.edu	37	chr3	123357035	123357035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggaccttcagagaccccGcattctctgaaaccaggatg	12	7	10	12	1	2	3	1	1	1	2	3	6	2	5	4	2	1	1	4	2	1	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:123357035G>A	ENST00000360772.3	-	30	5222	c.4844C>T	c.(4843-4845)gCg>gTg	p.A1615V	MYLK_ENST00000346322.5_Missense_Mutation_p.A1546V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1615V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1615V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1615V|MYLK_ENST00000354792.5_Missense_Mutation_p.A415V|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1615	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGAGACCCCGCATTCTCTGA	0.552													4	101					0	0	0	0	A	123357035	G	A	123357035	3	1	480	1	0	0	0	0	1	0	0	0	10126	1087	38	1	924	1	MYLK	3	123357035	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	15032769	123357035	74665395	56	92508											
GPR160	26996	broad.mit.edu	37	chr3	169801763	169801763	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaatttaactaaaaatatGactgctctctcttcagagaa	16	13	5	7	0	3	3	1	2	2	1	4	4	3	3	0	0	2	1	0	0	7	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:169801763G>A	ENST00000355897.5	+	4	611	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	1						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTAAAAATATGACTGCTCTCT	0.358													5	115					0	0	0	0	A	169801763	G	A	169801763	1	1	480	1	0	0	0	0	0	0	0	0	6713	1290	45	2		2	GPR160	3	169801763	Translation_Start_Site	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	46444728	169801763	28220667	57	92509											
FNDC3B	64778	broad.mit.edu	37	chr3	172046834	172046834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcaatggggtacacattCaggctggccgctcgaaacga	10	6	13	12	4	1	0	1	0	0	0	2	2	1	0	2	5	2	4	2	5	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:172046834C>A	ENST00000336824.4	+	12	1446	c.1347C>A	c.(1345-1347)ttC>ttA	p.F449L	FNDC3B_ENST00000415807.2_Missense_Mutation_p.F449L|FNDC3B_ENST00000416957.1_Missense_Mutation_p.F449L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	449	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGTACACATTCAGGCTGGCCG	0.483													5	174					0.000602214	0.000633556	1	0	A	172046834	C	A	172046834	3	1	480	1	0	0	0	0	1	0	0	0	6015	825	29	2	1389	2	FNDC3B	3	172046834	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	2245071	172046834	25975596	58	92510											
MASP1	5648	broad.mit.edu	37	chr3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagaaaggccccaaaacTtttggaccaactttgatctg	13	9	7	12	0	1	2	0	1	1	1	1	3	1	3	4	2	2	0	4	2	4	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:186971086T>G	ENST00000337774.5	-	6	1151	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	254	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.K254N(2)|p.K254K(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAAAACTTTTGGACCAA	0.498													21	230					0	0	0	0	G	186971086	T	G	186971086	3	3	480	1	0	0	0	0	1	0	0	0	9391	1606	56	5	2326	5	MASP1	3	186971086	Missense_Mutation	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	14924252	186971086	11051344	59	92511											
PDE6B	5158	broad.mit.edu	37	chr4	647878	647878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctgcccaggaattttttGacgtgtggtctgtgctgatg	5	16	12	8	1	2	2	0	2	2	0	3	3	2	3	1	2	2	1	1	2	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:647878G>C	ENST00000255622.6	+	5	905	c.862G>C	c.(862-864)Gac>Cac	p.D288H	RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.D9H|PDE6B_ENST00000496514.1_Missense_Mutation_p.D288H|RP11-1191J2.2_ENST00000468356.1_RNA	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	288	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGAATTTTTTGACGTGTGGTC	0.667													6	75					0	0	0	0	C	647878	G	C	647878	3	2	480	1	0	0	0	0	1	0	0	0	11717	1290	45	2	880	2	PDE6B	4	647878	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		647878	190506398	60	92512											
SH3BP2	6452	broad.mit.edu	37	chr4	2831387	2831387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgttggcctggctgctGaggactccaagagggaccca	9	7	14	11	0	0	3	0	1	0	2	1	5	1	5	3	4	1	3	3	4	1	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:2831387G>A	ENST00000356331.5	+	8	1015	c.754G>A	c.(754-756)Gag>Aag	p.E252K	SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000452765.2_Missense_Mutation_p.E252K|SH3BP2_ENST00000511747.1_Missense_Mutation_p.E252K|SH3BP2_ENST00000503393.2_Missense_Mutation_p.E309K|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E252K|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E280K	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	252					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCTGGCTGCTGAGGACTCCAA	0.677									Cherubism				6	49					0	0	0	0	A	2831387	G	A	2831387	3	1	480	1	0	0	0	0	1	0	0	0	14332	1291	45	2	1039	2	SH3BP2	4	2831387	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	2183509	2831387	188322889	61	92513											
CPZ	8532	broad.mit.edu	37	chr4	8608483	8608483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgccggctacaacgggtGgacgagcgggaggcagaacg	9	3	20	9	5	0	1	0	0	0	1	0	4	0	3	1	6	5	2	1	6	3	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:8608483G>T	ENST00000382480.2	+	6	1315	c.515G>T	c.(514-516)tGg>tTg	p.W172L	CPZ_ENST00000360986.4_Missense_Mutation_p.W309L|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.W298L	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	309					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACAACGGGTGGACGAGCGGG	0.657													8	59					0.0581538	0.0587768	1	0	T	8608483	G	T	8608483	3	4	480	1	0	0	0	0	1	0	0	0	3869	1357	47	4	948	4	CPZ	4	8608483	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	5777096	8608483	182545793	62	92514											
TLR6	10333	broad.mit.edu	37	chr4	38828727	38828727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatttcacatcattgttttCagtgactagtgttaatttca	11	18	6	6	0	4	2	4	1	0	1	4	2	4	2	0	0	0	2	0	0	2	7			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:38828727C>T	ENST00000436693.2	-	2	2487	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TLR6_ENST00000381950.1_Missense_Mutation_p.E790K	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	790					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATTGTTTTCAGTGACTAGT	0.363													4	36					0	0	0	0	T	38828727	C	T	38828727	3	4	480	1	0	0	0	0	1	0	0	0	16049	835	29	2	26	2	TLR6	4	38828727	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	30220244	38828727	152325549	63	92515											
RHOH	399	broad.mit.edu	37	chr4	40245496	40245496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggagtacagcaggtgtttGagtgcgccgtccgaactgcc	7	8	16	10	3	0	1	0	1	0	0	1	3	1	2	3	3	5	3	3	3	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:40245496G>C	ENST00000381799.4	+	3	1214	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	RHOH_ENST00000505618.1_Missense_Mutation_p.E164Q	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	164					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GCAGGTGTTTGAGTGCGCCGT	0.547													11	47					0	0	0	0	C	40245496	G	C	40245496	3	2	480	1	0	0	0	0	1	0	0	0	13423	1291	45	2	492	2	RHOH	4	40245496	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1416769	40245496	150908780	64	92516											
CORIN	10699	broad.mit.edu	37	chr4	47765413	47765413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctgtcatcgccatcaatGatgcactcagggaaggcgag	11	8	11	11	2	3	1	3	1	0	0	4	3	3	2	2	2	2	1	2	2	3	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:47765413G>C	ENST00000273857.4	-	4	599	c.600C>G	c.(598-600)atC>atG	p.I200M	CORIN_ENST00000504584.1_Missense_Mutation_p.I200M|CORIN_ENST00000505909.1_Missense_Mutation_p.I200M|CORIN_ENST00000502252.1_Missense_Mutation_p.I133M|CORIN_ENST00000508498.1_Missense_Mutation_p.I61M	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	200	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGCCATCAATGATGCACTCAG	0.408													3	32					0	0	0	0	C	47765413	G	C	47765413	3	2	480	1	0	0	0	0	1	0	0	0	3782	1280	45	2	2604	2	CORIN	4	47765413	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	7519917	47765413	143388863	65	92517											
EPHA5	2044	broad.mit.edu	37	chr4	66467891	66467891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaatttgagttctatgaaGattctggaagcaccttcatt	12	15	8	6	0	3	3	1	2	2	1	3	4	3	4	1	1	1	3	1	1	5	7	rs55882537		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:66467891G>A	ENST00000273854.3	-	3	978	c.378C>T	c.(376-378)atC>atT	p.I126I	EPHA5_ENST00000511294.1_Silent_p.I126I|EPHA5_ENST00000432638.2_Silent_p.I126I|EPHA5_ENST00000354839.4_Silent_p.I126I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	126					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTCTATGAAGATTCTGGAAG	0.438										TSP Lung(17;0.13)			8	127					0	0	0	0	A	66467891	G	A	66467891	2	1	480	1	0	0	0	0	0	0	0	1	5208	932	33	2		2	EPHA5	4	66467891	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	18702478	66467891	124686385	66	92518											
UGT2B17	7367	broad.mit.edu	37	chr4	69433570	69433570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atatatatcatattttttatCctctccatgaaaatcatttg	13	19	2	7	0	3	1	2	1	1	0	5	1	4	1	2	0	0	0	2	0	7	8			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:69433570C>G	ENST00000317746.2	-	1	675	c.633G>C	c.(631-633)agG>agC	p.R211S		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	211					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TATTTTTTATCCTCTCCATGA	0.353													18	276					0	0	0	0	G	69433570	C	G	69433570	3	3	480	1	0	0	0	0	1	0	0	0	17055	854	30	2	983	2	UGT2B17	4	69433570	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	2965679	69433570	121720706	67	92519											
ADAMTS3	9508	broad.mit.edu	37	chr4	73149139	73149139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagcatatgcatttggaCctcccactgaagagatgcta	13	9	9	10	0	0	2	0	1	0	1	1	4	1	3	2	1	4	4	2	1	4	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:73149139C>T	ENST00000286657.4	-	22	3368	c.3332G>A	c.(3331-3333)gGt>gAt	p.G1111D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1111					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCATTTGGACCTCCCACTGA	0.468													13	96					0	0	0	0	T	73149139	C	T	73149139	3	4	480	1	0	0	0	0	1	0	0	0	267	507	18	4	289	4	ADAMTS3	4	73149139	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	3715569	73149139	118005137	68	92520											
USO1	8615	broad.mit.edu	37	chr4	76726448	76726448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaaaggactctatgattGaaaatatggtaaagtaaatg	18	11	9	3	0	1	3	0	3	1	0	1	4	1	4	0	2	0	2	0	2	10	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:76726448G>C	ENST00000538159.1	+	20	2308	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	USO1_ENST00000514213.2_Missense_Mutation_p.E746Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	761					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCTATGATTGAAAATATGGT	0.338													3	31					0	0	0	0	C	76726448	G	C	76726448	3	2	480	1	0	0	0	0	1	0	0	0	17135	1291	45	2	2196	2	USO1	4	76726448	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3577309	76726448	114427828	69	92521											
CCNI	10983	broad.mit.edu	37	chr4	77979787	77979787	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctgggatggagaaacaTtctataagggaacaattttg	13	12	10	6	0	2	1	0	0	2	1	3	4	2	3	0	3	2	0	0	3	5	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:77979787T>A	ENST00000237654.4	-	3	692	c.114_splice	c.e3-1	p.N39_splice	CCNI_ENST00000537948.1_Splice_Site_p.N25_splice|CCNI_ENST00000504697.1_5'UTR	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	39					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TGGAGAAACATTCTATAAGGG	0.363													16	107					0	0	0	0	A	77979787	T	A	77979787	5	1	480	1	0	0	0	0	0	0	1	0	2955	1507	52	5	1037	5	CCNI	4	77979787	Splice_Site	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	1253339	77979787	113174489	70	92522											
BMP2K	55589	broad.mit.edu	37	chr4	79782574	79782574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcagctcttcctgaacCgatgactgctagtgaagcag	9	11	9	12	1	2	3	1	3	1	0	4	4	4	3	3	0	4	3	3	0	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:79782574C>T	ENST00000335016.5	+	9	1185	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P340L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	340						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CTTCCTGAACCGATGACTGCT	0.333													6	56					0	0	0	0	T	79782574	C	T	79782574	3	4	480	1	0	0	0	0	1	0	0	0	1465	652	23	1	1053	1	BMP2K	4	79782574	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1802787	79782574	111371702	71	92523											
UNC5C	8633	broad.mit.edu	37	chr4	96091445	96091445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaccgtggtgatggtgttCgcaggatccagcagcggcaa	8	8	16	9	3	0	2	0	2	0	0	2	3	1	3	2	4	2	4	2	4	1	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:96091445C>T	ENST00000453304.1	-	15	2838	c.2490G>A	c.(2488-2490)gcG>gcA	p.A830A		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	830					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGATGGTGTTCGCAGGATCCA	0.552													23	190					0	0	0	0	T	96091445	C	T	96091445	2	4	480	1	0	0	0	0	0	0	0	1	17089	871	31	1		1	UNC5C	4	96091445	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	16308871	96091445	95062831	72	92524											
FAT4	79633	broad.mit.edu	37	chr4	126373805	126373805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggtggaacctgtcaCaatttagtgggaggattttc	10	12	12	7	0	1	0	1	0	0	0	2	3	1	3	1	4	1	0	1	4	3	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:126373805C>T	ENST00000394329.3	+	9	11647	c.11634C>T	c.(11632-11634)caC>caT	p.H3878H	FAT4_ENST00000335110.5_Silent_p.H2176H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3878	EGF-like 2; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAACCTGTCACAATTTAGTGG	0.478													8	47					0	0	0	0	T	126373805	C	T	126373805	2	4	480	1	0	0	0	0	0	0	0	1	5737	477	17	4		4	FAT4	4	126373805	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	30282360	126373805	64780471	73	92525											
CMYA5	202333	broad.mit.edu	37	chr5	79048590	79048590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatgacagctcggcaagaAgtgaccagatgttaaaacaa	17	7	10	7	1	0	5	0	3	0	2	1	5	0	5	1	1	2	3	1	1	5	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr5:79048590A>G	ENST00000446378.2	+	6	11114	c.11083A>G	c.(11083-11085)Agt>Ggt	p.S3695G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3695						perinuclear region of cytoplasm		p.S3695R(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)		CTCGGCAAGAAGTGACCAGAT	0.383													13	66					0	0	0	0	G	79048590	A	G	79048590	3	3	480	1	0	0	0	0	1	0	0	0	3620	72	3	5	11105	5	CMYA5	5	79048590	Missense_Mutation	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08		79048590	101866670	74	92526											
LECT2	3950	broad.mit.edu	37	chr5	135286949	135286949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccattattgatagcattCttgttttgataaggtttctc	10	18	6	7	0	2	2	0	2	2	0	3	2	2	2	1	1	1	3	1	1	3	9			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr5:135286949C>G	ENST00000274507.1	-	3	452	c.252G>C	c.(250-252)aaG>aaC	p.K84N	LECT2_ENST00000471827.1_5'UTR|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000514447.2_Missense_Mutation_p.K84N|LECT2_ENST00000512872.1_Missense_Mutation_p.K12N|LECT2_ENST00000522943.1_Missense_Mutation_p.K84N	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	84					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGATAGCATTCTTGTTTTGAT	0.463													8	55					0	0	0	0	G	135286949	C	G	135286949	3	3	480	1	0	0	0	0	1	0	0	0	8766	912	32	2	211	2	LECT2	5	135286949	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	56238359	135286949	45628311	75	92527											
PCDHB3	56132	broad.mit.edu	37	chr5	140481238	140481238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaagtctacagtcatagtCcaggtggttgatgtcaacga	12	10	12	7	1	3	1	2	1	1	0	4	3	4	2	1	3	2	1	1	3	4	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr5:140481238C>A	ENST00000231130.2	+	1	1005	c.1005C>A	c.(1003-1005)gtC>gtA	p.V335V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		335	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTCATAGTCCAGGTGGTTG	0.463													5	73					2.0095e-06	2.20422e-06	1	0	A	140481238	C	A	140481238	2	1	480	1	0	0	0	0	0	0	0	1	11614	842	30	2		2	PCDHB3	5	140481238	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	5194289	140481238	40434022	76	92528											
BNIP1	662	broad.mit.edu	37	chr5	172586982	172586982	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatccagtaccatcactGagagcctcatggggatcagc	12	7	10	12	0	3	2	3	1	0	2	4	4	4	3	3	2	3	1	3	2	1	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr5:172586982G>T	ENST00000231668.9	+	6	651	c.547G>T	c.(547-549)Gag>Tag	p.E183*	BNIP1_ENST00000351486.5_Nonsense_Mutation_p.E140*|BNIP1_ENST00000393770.4_Nonsense_Mutation_p.E106*|BNIP1_ENST00000352523.6_Nonsense_Mutation_p.E149*	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	140					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TACCATCACTGAGAGCCTCAT	0.542													5	193					0.014758	0.0150777	1	0	T	172586982	G	T	172586982	4	4	480	1	0	0	0	0	0	1	0	0	1481	1291	45	2	569	2	BNIP1	5	172586982	Nonsense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	32105744	172586982	8328278	77	92529											
GMPR	2766	broad.mit.edu	37	chr6	16247130	16247130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcagacctactcagggattCccatcatcgtggccaacatg	11	8	9	13	1	2	1	2	0	0	1	4	2	3	2	3	2	3	1	3	2	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:16247130C>T	ENST00000259727.4	+	2	259	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	49					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			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)				CTCAGGGATTCCCATCATCGT	0.473													17	95					0	0	0	0	T	16247130	C	T	16247130	3	4	480	1	0	0	0	0	1	0	0	0	6547	855	30	2	151	2	GMPR	6	16247130	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08		16247130	154867937	78	92530											
ABT1	29777	broad.mit.edu	37	chr6	26597380	26597380	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatatcccgccgcgctTccggcccctgcacgtccgca	4	6	11	20	6	0	0	0	0	0	0	3	0	3	0	7	2	1	3	7	2	1	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:26597380T>A	ENST00000274849.1	+	1	201	c.170T>A	c.(169-171)tTc>tAc	p.F57Y		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	57	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGCCGCGCTTCCGGCCCCTG	0.622													4	31					0	0	0	0	A	26597380	T	A	26597380	3	1	480	1	0	0	0	0	1	0	0	0	101	1783	62	5	172	5	ABT1	6	26597380	Missense_Mutation	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	10350250	26597380	144517687	79	92531											
HSPA1L	3305	broad.mit.edu	37	chr6	31777941	31777941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatgatagggttacacatCtgctccaattcctttctctt	8	16	7	10	0	2	2	0	2	2	0	5	2	4	2	2	1	2	2	2	1	3	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:31777941C>G	ENST00000375654.4	-	2	1998	c.1809G>C	c.(1807-1809)caG>caC	p.Q603H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.Q603H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	603					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTTACACATCTGCTCCAATT	0.483													31	117					0	0	0	0	G	31777941	C	G	31777941	3	3	480	1	0	0	0	0	1	0	0	0	7462	912	32	2	120	2	HSPA1L	6	31777941	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	5180561	31777941	139337126	80	92532											
CFB	629	broad.mit.edu	37	chr6	31905149	31905149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggccttaaacagtgtctatCtcatgatgaacaaccaaatg	14	10	7	10	1	2	2	1	2	2	0	3	2	2	2	2	1	3	0	2	1	6	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:31905149C>G	ENST00000556679.1	+	5	638	c.583C>G	c.(583-585)Ctc>Gtc	p.L195V	C2_ENST00000442278.2_Missense_Mutation_p.L216V|C2_ENST00000452323.2_Missense_Mutation_p.L134V|C2_ENST00000299367.5_Missense_Mutation_p.L348V|CFB_ENST00000456570.1_Missense_Mutation_p.L195V|CFB_ENST00000477310.1_Missense_Mutation_p.L166V|C2_ENST00000469372.1_Missense_Mutation_p.L102V			P00751	CFAB_HUMAN	complement factor B	364	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAGTGTCTATCTCATGATGAA	0.473													11	155					0	0	0	0	G	31905149	C	G	31905149	3	3	480	1	0	0	0	0	1	0	0	0	3307	913	32	2		2	CFB	6	31905149	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	127208	31905149	139209918	81	92533											
PPARD	5467	broad.mit.edu	37	chr6	35393642	35393642	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaacgttccacgggtggAggctatccaggacaccatcc	10	7	11	13	2	0	1	0	1	0	0	3	3	3	3	4	4	1	2	4	4	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:35393642A>T	ENST00000311565.4	+	9	1461	c.1112A>T	c.(1111-1113)gAg>gTg	p.E371V	PPARD_ENST00000448077.2_Missense_Mutation_p.E332V|PPARD_ENST00000418635.2_Missense_Mutation_p.E273V|PPARD_ENST00000360694.3_Missense_Mutation_p.E371V|PPARD_ENST00000540939.1_Missense_Mutation_p.E268V	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	371	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CCACGGGTGGAGGCTATCCAG	0.622													8	64					0	0	0	0	T	35393642	A	T	35393642	3	4	480	1	0	0	0	0	1	0	0	0	12369	304	11	5	1159	5	PPARD	6	35393642	Missense_Mutation	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	3488493	35393642	135721425	82	92534											
LHFPL5	222662	broad.mit.edu	37	chr6	35773541	35773541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgtgatgtggggtaccCtcaccatctgcttctccgta	5	12	12	12	2	3	1	1	1	2	0	4	1	3	1	3	3	2	3	3	3	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:35773541C>G	ENST00000360215.1	+	1	471	c.94C>G	c.(94-96)Ctc>Gtc	p.L32V	LHFPL5_ENST00000373853.1_Missense_Mutation_p.L32V	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	32						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GTGGGGTACCCTCACCATCTG	0.592													31	111					0	0	0	0	G	35773541	C	G	35773541	3	3	480	1	0	0	0	0	1	0	0	0	8822	681	24	4	96	4	LHFPL5	6	35773541	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	379899	35773541	135341526	83	92535											
TFEB	7942	broad.mit.edu	37	chr6	41658473	41658473	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactgttgccagcggaggaGgacagcacgtgtccagctcg	8	6	15	12	3	0	0	0	0	0	0	2	3	1	3	2	3	4	4	2	3	0	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:41658473G>C	ENST00000394283.1	-	3	1622	c.396C>G	c.(394-396)tcC>tcG	p.S132S	TFEB_ENST00000403298.4_Silent_p.S132S|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000230323.4_Silent_p.S132S|TFEB_ENST00000358871.2_Silent_p.S146S|TFEB_ENST00000373033.1_Silent_p.S132S			P19484	TFEB_HUMAN	transcription factor EB	132				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CAGCGGAGGAGGACAGCACGT	0.642			T	ALPHA	renal (childhood epithelioid)								8	27					0	0	0	0	C	41658473	G	C	41658473	2	2	480	1	0	0	0	0	0	0	0	1	15895	987	35	4		4	TFEB	6	41658473	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	5884932	41658473	129456594	84	92536											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753234	41753234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaactctactgcggccgtCatcatgcagagttgctgcgc	8	9	11	13	3	3	1	2	0	1	1	3	2	3	1	1	1	6	3	1	1	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:41753234C>T	ENST00000359201.5	+	5	1127	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	PRICKLE4_ENST00000394259.1_Missense_Mutation_p.H140Y|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.H140Y|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.H180Y|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.H180Y			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	140	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCGGCCGTCATCATGCAGA	0.617													8	57					0	0	0	0	T	41753234	C	T	41753234	3	4	480	1	0	0	0	0	1	0	0	0	12569	826	29	2	552	2	PRICKLE4	6	41753234	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	94761	41753234	129361833	85	92537											
UBR2	23304	broad.mit.edu	37	chr6	42638408	42638408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatctgtagaaagaattttGagtgatgaagataaaccatt	17	13	8	3	0	1	6	0	3	1	3	1	6	1	6	1	0	1	1	1	0	7	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:42638408G>C	ENST00000372899.1	+	36	4299	c.4041G>C	c.(4039-4041)ttG>ttC	p.L1347F	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.L1347F	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1347					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGAATTTTGAGTGATGAAG	0.308													14	90					0	0	0	0	C	42638408	G	C	42638408	3	2	480	1	0	0	0	0	1	0	0	0	16998	1281	45	2	4329	2	UBR2	6	42638408	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	885174	42638408	128476659	86	92538											
DST	667	broad.mit.edu	37	chr6	56504321	56504321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcaacttcctcctcttctTtttcattcaaccaaataagt	12	15	2	12	0	4	0	2	0	2	0	6	0	6	0	3	0	3	1	3	0	5	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:56504321T>C	ENST00000370754.5	-	20	2686	c.2687A>G	c.(2686-2688)aAa>aGa	p.K896R	DST_ENST00000446842.2_Missense_Mutation_p.K392R|DST_ENST00000312431.6_Missense_Mutation_p.K718R|DST_ENST00000244364.6_Missense_Mutation_p.K392R|DST_ENST00000370765.6_Missense_Mutation_p.K392R|DST_ENST00000370788.2_Missense_Mutation_p.K718R|DST_ENST00000421834.2_Missense_Mutation_p.K718R|DST_ENST00000518935.1_Missense_Mutation_p.K392R|DST_ENST00000370769.4_Missense_Mutation_p.K718R|DST_ENST00000361203.3_Missense_Mutation_p.K718R			Q03001	DYST_HUMAN	dystonin	718	SH3.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCCTCTTCTTTTTCATTCAA	0.378													39	116					0	0	0	0	C	56504321	T	C	56504321	3	2	480	1	0	0	0	0	1	0	0	0	4819	1841	64	5	19292	5	DST	6	56504321	Missense_Mutation	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	13865913	56504321	114610746	87	92539											
COL12A1	1303	broad.mit.edu	37	chr6	75839860	75839860	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagatgatcctgtactgctGaactggcccatcagcatgat	11	11	9	10	0	1	4	1	3	0	1	2	4	2	4	2	1	4	3	2	1	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:75839860G>C	ENST00000322507.8	-	37	6466	c.6157C>G	c.(6157-6159)Cag>Gag	p.Q2053E	COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2053E|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2053E|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q889E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2053	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGTACTGCTGAACTGGCCCA	0.423													6	68					0	0	0	0	C	75839860	G	C	75839860	3	2	480	1	0	0	0	0	1	0	0	0	3699	1299	45	2	3154	2	COL12A1	6	75839860	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	19335539	75839860	95275207	88	92540											
FBXO30	84085	broad.mit.edu	37	chr6	146126695	146126695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaggaaagccattacaaaGagcagaagtgtcataagaac	20	5	9	7	0	1	3	1	0	0	3	1	4	1	4	1	1	4	1	1	1	7	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:146126695G>C	ENST00000237281.4	-	2	1013	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	283							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCATTACAAAGAGCAGAAGTG	0.338													4	178					0	0	0	0	C	146126695	G	C	146126695	3	2	480	1	0	0	0	0	1	0	0	0	5785	942	33	2	1398	2	FBXO30	6	146126695	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	70286835	146126695	24988372	89	92541											
ABCB5	340273	broad.mit.edu	37	chr7	20682903	20682903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcagcacgacagaccaaGaggattcgaaaacagttttt	15	8	9	9	2	0	2	0	0	0	2	1	5	0	3	1	1	3	3	1	1	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:20682903G>A	ENST00000404938.2	+	6	1063	c.411G>A	c.(409-411)aaG>aaA	p.K137K		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	321	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GACAGACCAAGAGGATTCGAA	0.423													4	47					0	0	0	0	A	20682903	G	A	20682903	2	1	480	1	0	0	0	0	0	0	0	1	44	933	33	2		2	ABCB5	7	20682903	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		20682903	138455760	90	92542											
MPP6	51678	broad.mit.edu	37	chr7	24720071	24720071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtatttattgcggctccgGagctagagacgttacgtgcc	7	12	13	9	4	0	1	0	0	0	1	1	3	1	2	2	3	4	4	2	3	4	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:24720071G>A	ENST00000396475.2	+	12	1677	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	MPP6_ENST00000222644.4_Missense_Mutation_p.E460K|MPP6_ENST00000409761.1_Missense_Mutation_p.E348K	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	460	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGCGGCTCCGGAGCTAGAGAC	0.413													21	110					0	0	0	0	A	24720071	G	A	24720071	3	1	480	1	0	0	0	0	1	0	0	0	9808	1175	41	2	1416	2	MPP6	7	24720071	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	4037168	24720071	134418592	91	92543											
CHN2	1124	broad.mit.edu	37	chr7	29544431	29544431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgtcaaaatggcatttGacagaggtaagcttgtactt	14	12	10	5	0	1	3	1	1	0	2	1	3	1	3	0	2	2	4	0	2	5	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:29544431G>A	ENST00000222792.6	+	10	1515	c.985G>A	c.(985-987)Gac>Aac	p.D329N	CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.D314N|CHN2_ENST00000409041.4_Missense_Mutation_p.D193N|CHN2_ENST00000539389.1_Missense_Mutation_p.D185N|CHN2_ENST00000421775.2_Missense_Mutation_p.D135N|CHN2_ENST00000495789.2_Missense_Mutation_p.D342N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.D404N|CHN2_ENST00000439711.2_Missense_Mutation_p.D193N|CHN2_ENST00000424025.2_Missense_Mutation_p.D148N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	329	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AATGGCATTTGACAGAGGTAA	0.408													6	73					0	0	0	0	A	29544431	G	A	29544431	3	1	480	1	0	0	0	0	1	0	0	0	3392	1290	45	2	1191	2	CHN2	7	29544431	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	4824360	29544431	129594232	92	92544											
UBE2D4	51619	broad.mit.edu	37	chr7	43992254	43992254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttttttattccaggtacaAcagactagcaagagagtgga	13	11	10	7	0	0	2	0	0	0	2	1	4	1	3	1	2	3	3	1	2	5	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:43992254A>T	ENST00000222402.2	+	7	493	c.404A>T	c.(403-405)aAc>aTc	p.N135I	POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_Missense_Mutation_p.N97I	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	135					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						TCCAGGTACAACAGACTAGCA	0.463													5	156					0	0	0	0	T	43992254	A	T	43992254	3	4	480	1	0	0	0	0	1	0	0	0	16947	43	2	5	430	5	UBE2D4	7	43992254	Missense_Mutation	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	14447823	43992254	115146409	93	92545											
YKT6	10652	broad.mit.edu	37	chr7	44251862	44251862	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggcccggaaacaaaactCatgctgtgccatcatgtgat	13	8	9	11	1	2	1	2	1	0	0	2	2	2	2	2	2	4	1	2	2	4	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:44251862C>G	ENST00000223369.2	+	7	665	c.578C>G	c.(577-579)tCa>tGa	p.S193*	YKT6_ENST00000496112.1_Nonsense_Mutation_p.S159*|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	193	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						AAACAAAACTCATGCTGTGCC	0.542													15	249					0	0	0	0	G	44251862	C	G	44251862	4	3	480	1	0	0	0	0	0	1	0	0	17581	838	29	2	604	2	YKT6	7	44251862	Nonsense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	259608	44251862	114886801	94	92546											
DMTF1	9988	broad.mit.edu	37	chr7	86794265	86794265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagatttgagtatgagcaCagtggaagaggattctgaca	14	10	12	5	0	1	5	0	3	1	2	1	7	1	7	0	2	2	2	0	2	3	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:86794265C>G	ENST00000394703.5	+	5	571	c.8C>G	c.(7-9)aCa>aGa	p.T3R	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000413276.2_Missense_Mutation_p.T3R|DMTF1_ENST00000411766.2_Missense_Mutation_p.T3R|DMTF1_ENST00000394702.3_Missense_Mutation_p.T3R|DMTF1_ENST00000331242.7_Missense_Mutation_p.T3R	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	3	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGTATGAGCACAGTGGAAGAG	0.393													8	118					0	0	0	0	G	86794265	C	G	86794265	3	3	480	1	0	0	0	0	1	0	0	0	4629	478	17	4	10	4	DMTF1	7	86794265	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	42542403	86794265	72344398	95	92547											
C7orf63	79846	broad.mit.edu	37	chr7	89891339	89891339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaccagcctcgttttataGaatctgcatatgatatcata	15	13	5	8	1	2	2	1	1	1	1	3	2	2	2	2	0	3	2	2	0	8	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:89891339G>A	ENST00000389297.4	+	4	576	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	C7orf63_ENST00000316089.8_Missense_Mutation_p.E109K|C7orf63_ENST00000497910.1_Missense_Mutation_p.E109K|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	109							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCGTTTTATAGAATCTGCATA	0.264													8	143					0	0	0	0	A	89891339	G	A	89891339	3	1	480	1	0	0	0	0	1	0	0	0	2432	943	33	2	339	2	C7orf63	7	89891339	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3097074	89891339	69247324	96	92548											
CDK6	1021	broad.mit.edu	37	chr7	92355095	92355095	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccagacctcggagaagctGaaacatcatatcctaataaa	16	8	7	10	1	1	3	1	1	0	2	4	4	3	3	3	1	2	1	3	1	6	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:92355095G>A	ENST00000265734.4	-	4	793	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	CDK6_ENST00000424848.2_Nonsense_Mutation_p.Q128*	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	128	Protein kinase.				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			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)			CGGAGAAGCTGAAACATCATA	0.403			T	MLLT10	ALL								7	188					0	0	0	0	A	92355095	G	A	92355095	4	1	480	1	0	0	0	0	0	1	0	0	3177	1299	45	2	618	2	CDK6	7	92355095	Nonsense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	2463756	92355095	66783568	97	92549											
COL1A2	1278	broad.mit.edu	37	chr7	94049930	94049930	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacggtgttgttggtccCacaggccccgttggagctgc	7	9	14	11	2	0	0	0	0	0	0	1	2	1	1	3	4	3	4	3	4	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:94049930C>A	ENST00000297268.6	+	37	2736	c.2265C>A	c.(2263-2265)ccC>ccA	p.P755P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	755			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTGTTGGTCCCACAGGCCCCG	0.498										HNSCC(75;0.22)			5	25					0.014758	0.0150777	1	0	A	94049930	C	A	94049930	2	1	480	1	0	0	0	0	0	0	0	1	3708	581	21	4		4	COL1A2	7	94049930	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1694835	94049930	65088733	98	92550											
PPP1R9A	55607	broad.mit.edu	37	chr7	94855306	94855306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacagatgaagaagaagatGaggtaggacctgtccttcct	13	8	11	9	0	0	6	0	2	0	4	2	7	2	7	4	2	0	1	4	2	4	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:94855306G>A	ENST00000289495.5	+	6	2140	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E642K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E642K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E642K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E664K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E642K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	642	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAAGAAGATGAGGTAGGACC	0.473										HNSCC(28;0.073)			4	111					0	0	0	0	A	94855306	G	A	94855306	3	1	480	1	0	0	0	0	1	0	0	0	12454	1291	45	2	2016	2	PPP1R9A	7	94855306	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	805376	94855306	64283357	99	92551											
RELN	5649	broad.mit.edu	37	chr7	103137151	103137151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttcaggaagaagtatGtagtcgtgtctaacagaaat	14	11	10	6	1	3	2	1	0	2	2	4	3	3	3	0	1	1	3	0	1	6	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:103137151G>A	ENST00000424685.2	-	56	9174	c.9015C>T	c.(9013-9015)taC>taT	p.Y3005Y	RELN_ENST00000343529.5_Silent_p.Y3005Y|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Silent_p.Y3005Y			P78509	RELN_HUMAN	reelin	3005					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGAAGTATGTAGTCGTGTC	0.428													5	96					0	0	0	0	A	103137151	G	A	103137151	2	1	480	1	0	0	0	0	0	0	0	1	13302	1372	48	4		4	RELN	7	103137151	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	8281845	103137151	56001512	100	92552											
RELN	5649	broad.mit.edu	37	chr7	103205798	103205798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgaggtgtaaattgaactttCcgtgtaatgcagacagccaa	13	10	10	8	2	0	2	0	1	0	1	1	3	1	2	2	1	3	3	2	1	5	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:103205798C>T	ENST00000424685.2	-	34	5296	c.5137G>A	c.(5137-5139)Gaa>Aaa	p.E1713K	RELN_ENST00000343529.5_Missense_Mutation_p.E1713K|RELN_ENST00000428762.1_Missense_Mutation_p.E1713K			P78509	RELN_HUMAN	reelin	1713					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGAACTTTCCGTGTAATGC	0.468													25	80					0	0	0	0	T	103205798	C	T	103205798	3	4	480	1	0	0	0	0	1	0	0	0	13302	864	30	2	5373	2	RELN	7	103205798	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	68647	103205798	55932865	101	92553											
RELN	5649	broad.mit.edu	37	chr7	103251214	103251214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcatggtaaatacttgctGatgtaaattcctgacaactt	12	14	8	7	0	0	2	0	2	0	0	1	2	1	2	1	2	3	4	1	2	6	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:103251214G>A	ENST00000424685.2	-	22	3095	c.2936C>T	c.(2935-2937)tCa>tTa	p.S979L	RELN_ENST00000343529.5_Missense_Mutation_p.S979L|RELN_ENST00000428762.1_Missense_Mutation_p.S979L			P78509	RELN_HUMAN	reelin	979					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATACTTGCTGATGTAAATTC	0.418													15	254					0	0	0	0	A	103251214	G	A	103251214	3	1	480	1	0	0	0	0	1	0	0	0	13302	1294	45	2	7622	2	RELN	7	103251214	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	45416	103251214	55887449	102	92554											
IFRD1	3475	broad.mit.edu	37	chr7	112099011	112099011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagagattttgaaaactCttggaccaatcctaaagaaa	17	10	8	6	0	1	4	0	2	1	2	2	6	2	5	2	1	1	0	2	1	7	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:112099011C>G	ENST00000403825.3	+	5	766	c.505C>G	c.(505-507)Ctt>Gtt	p.L169V	IFRD1_ENST00000486688.1_3'UTR|IFRD1_ENST00000535603.1_Missense_Mutation_p.L119V|IFRD1_ENST00000005558.4_Missense_Mutation_p.L169V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	169					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTTGAAAACTCTTGGACCAAT	0.388													8	209					0	0	0	0	G	112099011	C	G	112099011	3	3	480	1	0	0	0	0	1	0	0	0	7606	913	32	2	523	2	IFRD1	7	112099011	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	8847797	112099011	47039652	103	92555											
FLNC	2318	broad.mit.edu	37	chr7	128489448	128489448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacggtggatgccaaggCagccggtgaggggaaggtga	10	5	19	7	2	1	2	1	2	0	0	1	5	1	4	2	7	2	1	2	7	2	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:128489448C>A	ENST00000325888.8	+	30	5276	c.5015C>A	c.(5014-5016)gCa>gAa	p.A1672E	FLNC_ENST00000346177.6_Missense_Mutation_p.A1672E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1672					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATGCCAAGGCAGCCGGTGAG	0.617													5	47					0.0215528	0.0219404	1	0	A	128489448	C	A	128489448	3	1	480	1	0	0	0	0	1	0	0	0	5980	710	25	4	5133	4	FLNC	7	128489448	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	16390437	128489448	30649215	104	92556											
IRF5	3663	broad.mit.edu	37	chr7	128582205	128582205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccctggctggtggccCaggtgaacagctgccagtac	8	7	14	12	0	0	2	0	2	0	0	0	2	0	2	3	4	5	3	3	4	3	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:128582205C>A	ENST00000402030.2	+	2	142	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	IRF5_ENST00000357234.5_Missense_Mutation_p.Q24K|IRF5_ENST00000477535.1_Missense_Mutation_p.Q24K|IRF5_ENST00000249375.4_Missense_Mutation_p.Q24K|IRF5_ENST00000473745.1_Missense_Mutation_p.Q24K	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	24					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCTGGTGGCCCAGGTGAACAG	0.622													14	57					2.32078e-09	2.63768e-09	1	0	A	128582205	C	A	128582205	3	1	480	1	0	0	0	0	1	0	0	0	7886	595	21	4	72	4	IRF5	7	128582205	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	92757	128582205	30556458	105	92557											
CNOT4	4850	broad.mit.edu	37	chr7	135080595	135080595	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgactggattggattttGacaaaccaggtggtggtgaa	11	11	15	4	0	0	3	0	3	0	0	0	6	0	6	1	6	1	0	1	6	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:135080595G>C	ENST00000428680.2	-	9	1190	c.911C>G	c.(910-912)tCa>tGa	p.S304*	CNOT4_ENST00000315544.5_Nonsense_Mutation_p.S307*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.S307*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.S307*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.S307*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.S307*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.S304*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.S304*	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	307					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGGATTTTGACAAACCAGG	0.388													21	41					0	0	0	0	C	135080595	G	C	135080595	4	2	480	1	0	0	0	0	0	1	0	0	3651	1294	45	2	1125	2	CNOT4	7	135080595	Nonsense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	6498390	135080595	24058068	106	92558											
ZNF467	168544	broad.mit.edu	37	chr7	149461881	149461881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcggcgtccggggccgcGtgggcggcttcgccgtgaat	3	6	20	12	8	0	1	0	1	0	0	2	1	1	1	3	6	0	1	3	6	1	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:149461881G>C	ENST00000302017.3	-	5	2123	c.1710C>G	c.(1708-1710)caC>caG	p.H570Q	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGGGCCGCGTGGGCGGCTT	0.711													11	25					0	0	0	0	C	149461881	G	C	149461881	3	2	480	1	0	0	0	0	1	0	0	0	18022	1136	40	3	81	3	ZNF467	7	149461881	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	14381286	149461881	9676782	107	92559											
SSPO	23145	broad.mit.edu	37	chr7	149526674	149526675	+	RNA	DEL	CT	CT	-																															tgtgtcccctccacagtcccCtcagtcccctccacctcctg																										TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:149526674_149526675delCT	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ccacagtcccctcagtcccctc	0.653													5	3	---	---	---	---					-	149526675	CT	-	149526674	6	5	480	0	1	1	0	1	0	0	0	0	15279	696	24	0		0	SSPO	7	149526674	RNA	DEL	CT	TCGA-QK-A6VC-01A-23D-A34J-08	64793	149526674	9611989	108	92560											
CHPF2	54480	broad.mit.edu	37	chr7	150931199	150931199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctgcgggtttcctggatCcagggggagggagaagatcc	7	8	16	10	1	0	2	0	0	0	2	4	5	4	4	4	5	1	1	4	5	1	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:150931199C>G	ENST00000035307.2	+	1	1615	c.102C>G	c.(100-102)atC>atG	p.I34M	CHPF2_ENST00000495645.1_Missense_Mutation_p.I26M	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	34						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TTTCCTGGATCCAGGGGGAGG	0.612													4	72					0	0	0	0	G	150931199	C	G	150931199	3	3	480	1	0	0	0	0	1	0	0	0	3398	845	30	2	104	2	CHPF2	7	150931199	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1404525	150931199	8207464	109	92561											
SGK223	157285	broad.mit.edu	37	chr8	8239028	8239028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgggcttggagtaaggtGagctgttcacaccttcatct	7	14	12	8	0	3	1	2	1	1	0	3	2	3	2	1	3	1	4	1	3	1	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:8239028G>A	ENST00000520004.1	-	2	494	c.230C>T	c.(229-231)tCa>tTa	p.S77L	SGK223_ENST00000330777.4_Missense_Mutation_p.S77L			Q86YV5	SG223_HUMAN		77							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGAGTAAGGTGAGCTGTTCAC	0.647													13	64					0	0	0	0	A	8239028	G	A	8239028	3	1	480	1	0	0	0	0	1	0	0	0	14297	1294	45	2	3998	2	SGK223	8	8239028	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		8239028	138124994	110	92562											
WRN	7486	broad.mit.edu	37	chr8	31012227	31012227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgcacactttcacagtctAtggccatcacatactcttta	11	14	4	12	0	4	0	2	0	2	0	4	0	4	0	1	1	2	1	1	1	4	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:31012227A>G	ENST00000298139.5	+	32	4024	c.3775A>G	c.(3775-3777)Atg>Gtg	p.M1259V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1259					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCACAGTCTATGGCCATCAC	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				5	74					0	0	0	0	G	31012227	A	G	31012227	3	3	480	1	0	0	0	0	1	0	0	0	17498	449	16	5	3897	5	WRN	8	31012227	Missense_Mutation	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	22773199	31012227	115351795	111	92563											
KCNU1	157855	broad.mit.edu	37	chr8	36766906	36766906	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagatgcccactcagccccGatggggcttcggaactttgt	7	9	13	12	2	1	1	1	0	0	1	2	4	1	2	3	4	3	1	3	4	1	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:36766906G>A	ENST00000399881.3	+	21	2221	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468													12	538					0	0	0	0	A	36766906	G	A	36766906	2	1	480	1	0	0	0	0	0	0	0	1	8146	1045	37	1		1	KCNU1	8	36766906	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	5754679	36766906	109597116	112	92564											
ERLIN2	11160	broad.mit.edu	37	chr8	37607144	37607144	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatggcccctgggctggtCattcaagtaagcattgctgc	7	11	11	12	0	2	0	2	0	0	0	3	0	3	0	3	3	3	4	3	3	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:37607144C>T	ENST00000276461.5	+	7	559	c.492C>T	c.(490-492)gtC>gtT	p.V164V	ERLIN2_ENST00000519638.1_Silent_p.V164V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	164					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGGGCTGGTCATTCAAGTAA	0.488													65	198					0	0	0	0	T	37607144	C	T	37607144	2	4	480	1	0	0	0	0	0	0	0	1	5271	813	29	2		2	ERLIN2	8	37607144	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	840238	37607144	108756878	113	92565											
WHSC1L1	54904	broad.mit.edu	37	chr8	38162107	38162107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaagtcagacactcacctCtggcacaaacgaaacaaaag	19	4	7	11	1	3	1	2	0	1	1	3	3	3	1	1	1	2	1	1	1	6	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:38162107C>G	ENST00000317025.8	-	14	3126	c.2609G>C	c.(2608-2610)aGa>aCa	p.R870T	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R870T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R870T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	870					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ACACTCACCTCTGGCACAAAC	0.393			T	NUP98	AML								18	294					0	0	0	0	G	38162107	C	G	38162107	3	3	480	1	0	0	0	0	1	0	0	0	17459	913	32	2	1748	2	WHSC1L1	8	38162107	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	554963	38162107	108201915	114	92566											
UBR5	51366	broad.mit.edu	37	chr8	103354814	103354814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtagaacccctttcattatCaaatgaggctccatcaagcc	12	10	7	12	0	3	2	3	1	0	1	4	2	4	2	4	2	2	2	4	2	5	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:103354814C>G	ENST00000520539.1	-	9	1591	c.985G>C	c.(985-987)Gat>Cat	p.D329H	UBR5_ENST00000220959.4_Missense_Mutation_p.D329H|UBR5_ENST00000521922.1_Missense_Mutation_p.D323H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	329					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTCATTATCAAATGAGGCT	0.448													11	157					0	0	0	0	G	103354814	C	G	103354814	3	3	480	1	0	0	0	0	1	0	0	0	17001	826	29	2	7618	2	UBR5	8	103354814	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	65192707	103354814	43009208	115	92567											
CSMD3	114788	broad.mit.edu	37	chr8	113259262	113259262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttacgtatgcattcaggCtgaatcccactccacgtaag	11	11	7	12	2	1	1	1	1	0	0	3	1	3	1	2	1	3	4	2	1	5	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:113259262C>T	ENST00000297405.5	-	64	10453	c.10209G>A	c.(10207-10209)caG>caA	p.Q3403Q	CSMD3_ENST00000352409.3_Silent_p.Q3333Q|CSMD3_ENST00000455883.2_Silent_p.Q3234Q|CSMD3_ENST00000343508.3_Silent_p.Q3363Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3403	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGCATTCAGGCTGAATCCCAC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	42					0	0	0	0	T	113259262	C	T	113259262	2	4	480	1	0	0	0	0	0	0	0	1	3978	796	28	4		4	CSMD3	8	113259262	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	9904448	113259262	33104760	116	92568											
CSMD3	114788	broad.mit.edu	37	chr8	113358346	113358346	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaacctatgggtagatttAttgtccatgtgcaatctaaa	14	13	7	7	0	1	1	0	0	1	1	2	1	2	1	2	1	2	2	2	1	8	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:113358346A>C	ENST00000297405.5	-	41	6666	c.6422T>G	c.(6421-6423)aTa>aGa	p.I2141R	CSMD3_ENST00000352409.3_Missense_Mutation_p.I2071R|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2037R|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2101R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2141	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTAGATTTATTGTCCATGT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	246					0	0	0	0	C	113358346	A	C	113358346	3	2	480	1	0	0	0	0	1	0	0	0	3978	449	16	5	4825	5	CSMD3	8	113358346	Missense_Mutation	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	99084	113358346	33005676	117	92569											
CSMD3	114788	broad.mit.edu	37	chr8	114448933	114448933	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagacaccgtcaataaaaAgacgaggttccaaaacgtaa	20	5	7	9	3	1	2	1	0	0	2	2	3	2	2	2	1	1	2	2	1	8	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:114448933A>C	ENST00000297405.5	-	1	395	c.151T>G	c.(151-153)Ttt>Gtt	p.F51V	CSMD3_ENST00000352409.3_Missense_Mutation_p.F51V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F51V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	51						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCAATAAAAAGACGAGGTTC	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	260					0	0	0	0	C	114448933	A	C	114448933	3	2	480	1	0	0	0	0	1	0	0	0	3978	72	3	5	11318	5	CSMD3	8	114448933	Missense_Mutation	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	1090587	114448933	31915089	118	92570											
COLEC10	10584	broad.mit.edu	37	chr8	120103455	120103455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactgggcccattgggaaGaagggtaagttgcatcttac	12	9	13	7	0	1	2	0	0	1	2	1	3	1	3	1	3	2	3	1	3	5	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:120103455G>A	ENST00000332843.2	+	3	329	c.288G>A	c.(286-288)aaG>aaA	p.K96K	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	96	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CCATTGGGAAGAAGGGTAAGT	0.438													15	46					0	0	0	0	A	120103455	G	A	120103455	2	1	480	1	0	0	0	0	0	0	0	1	3740	933	33	2		2	COLEC10	8	120103455	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	5654522	120103455	26260567	119	92571											
GSDMD	79792	broad.mit.edu	37	chr8	144643207	144643207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgagccagaagaagacGgtcaccatcccctcaggcag	12	5	10	14	1	3	4	2	1	1	3	4	4	4	4	4	2	1	1	4	2	2	0	rs145648319		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:144643207G>A	ENST00000526406.1	+	8	1498	c.615G>A	c.(613-615)acG>acA	p.T205T	GSDMD_ENST00000533063.1_Silent_p.T253T|GSDMD_ENST00000262580.4_Silent_p.T205T	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	205										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAAGAAGACGGTCACCATCC	0.687													9	41					0	0	0	0	A	144643207	G	A	144643207	2	1	480	1	0	0	0	0	0	0	0	1	6869	1103	39	1		1	GSDMD	8	144643207	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	24539752	144643207	1720815	120	92572											
ZNF623	9831	broad.mit.edu	37	chr8	144732950	144732950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaggcattccgtcatcGctcagaccttattgaacacc	10	10	9	12	2	2	2	2	1	0	1	4	3	3	3	3	2	1	2	3	2	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:144732950G>A	ENST00000501748.2	+	1	997	c.908G>A	c.(907-909)cGc>cAc	p.R303H	ZNF623_ENST00000458270.2_Missense_Mutation_p.R263H|ZNF623_ENST00000526926.1_Missense_Mutation_p.R263H	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCCGTCATCGCTCAGACCTT	0.448													11	94					0	0	0	0	A	144732950	G	A	144732950	3	1	480	1	0	0	0	0	1	0	0	0	18142	1087	38	1	910	1	ZNF623	8	144732950	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	89743	144732950	1631072	121	92573											
UNC13B	10497	broad.mit.edu	37	chr9	35243359	35243359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccttgggagctgacaatGaggtaggagcagccttattt	10	11	13	7	0	0	2	0	2	0	0	0	4	0	4	2	3	4	3	2	3	3	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:35243359G>C	ENST00000378495.3	+	6	688	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	UNC13B_ENST00000396787.1_Missense_Mutation_p.E156Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.E156Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	156					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			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)			AGCTGACAATGAGGTAGGAGC	0.448													10	81					0	0	0	0	C	35243359	G	C	35243359	3	2	480	1	0	0	0	0	1	0	0	0	17081	1291	45	2	488	2	UNC13B	9	35243359	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		35243359	105970072	122	92574											
C9orf135	138255	broad.mit.edu	37	chr9	72501807	72501807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatatgattatcagcCacatgtgagtacaagaaccg	14	9	7	11	1	1	3	1	2	0	1	2	3	2	3	4	0	3	1	4	0	5	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:72501807C>A	ENST00000377197.3	+	5	590	c.503C>A	c.(502-504)cCa>cAa	p.P168Q	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Intron	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	168						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GATTATCAGCCACATGTGAGT	0.368													11	58					1.58986e-06	1.75755e-06	1	0	A	72501807	C	A	72501807	3	1	480	1	0	0	0	0	1	0	0	0	2483	594	21	4	521	4	C9orf135	9	72501807	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	37258448	72501807	68711624	123	92575											
AGTPBP1	23287	broad.mit.edu	37	chr9	88307720	88307720	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctacgatcctagaattaTtggtaaggctaaaaagaacg	15	10	9	7	2	0	2	0	0	0	2	2	3	2	2	2	2	2	2	2	2	9	6	rs145337179	byFrequency	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:88307720T>C	ENST00000357081.3	-	3	185	c.41A>G	c.(40-42)aAt>aGt	p.N14S	AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.N14S|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N66S|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N14S			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	14					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCTAGAATTATTGGTAAGGCT	0.363													10	45					0	0	0	0	C	88307720	T	C	88307720	3	2	480	1	0	0	0	0	1	0	0	0	400	1493	52	5	3615	5	AGTPBP1	9	88307720	Missense_Mutation	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	15805913	88307720	52905711	124	92576											
C9orf84	158401	broad.mit.edu	37	chr9	114454526	114454526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattgtatgaagtcacaggtGgtaaaaaacttgagatttct	14	13	10	4	0	2	2	1	2	1	1	2	4	2	2	0	2	1	2	0	2	5	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:114454526G>A	ENST00000394779.3	-	23	3666	c.3422C>T	c.(3421-3423)cCa>cTa	p.P1141L	C9orf84_ENST00000374287.3_Missense_Mutation_p.P1180L|C9orf84_ENST00000318737.4_Missense_Mutation_p.P1180L|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1106L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1180										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTCACAGGTGGTAAAAAACT	0.363													12	85					0	0	0	0	A	114454526	G	A	114454526	3	1	480	1	0	0	0	0	1	0	0	0	2525	1348	47	4	803	4	C9orf84	9	114454526	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	26146806	114454526	26758905	125	92577											
PRPF4	9128	broad.mit.edu	37	chr9	116048543	116048543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagctctggtctgttcctGattgcaacctccttcacact	7	13	7	14	0	3	1	1	1	2	0	5	1	5	1	3	1	3	4	3	1	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:116048543G>A	ENST00000374199.4	+	8	1182	c.781G>A	c.(781-783)Gat>Aat	p.D261N	PRPF4_ENST00000374198.4_Missense_Mutation_p.D262N			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	262						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTCTGTTCCTGATTGCAACCT	0.443													12	143					0	0	0	0	A	116048543	G	A	116048543	3	1	480	1	0	0	0	0	1	0	0	0	12650	1290	45	2	814	2	PRPF4	9	116048543	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1594017	116048543	25164888	126	92578											
ITIH2	3698	broad.mit.edu	37	chr10	7786082	7786082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgttggtgccaagaaGcccaacaatggaaaactaag	15	7	10	9	0	0	1	0	0	0	1	0	2	0	2	2	2	5	2	2	2	7	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:7786082G>A	ENST00000358415.4	+	18	2413	c.2247G>A	c.(2245-2247)aaG>aaA	p.K749K	ITIH2_ENST00000379587.4_Silent_p.K738K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	749					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGCCAAGAAGCCCAACAATG	0.383													19	70					0	0	0	0	A	7786082	G	A	7786082	2	1	480	1	0	0	0	0	0	0	0	1	7957	962	34	4		4	ITIH2	10	7786082	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		7786082	127748665	127	92579											
FAM171A1	221061	broad.mit.edu	37	chr10	15325940	15325940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgcttcgaggcggtgaCaatcaactgactgcccagct	9	8	12	12	2	1	2	1	2	0	0	2	3	1	2	1	3	4	3	1	3	2	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:15325940C>A	ENST00000378116.4	-	2	268	c.262G>T	c.(262-264)Gtc>Ttc	p.V88F		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	88						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GAGGCGGTGACAATCAACTGA	0.542													12	75					1.49906e-05	1.62542e-05	1	0	A	15325940	C	A	15325940	3	1	480	1	0	0	0	0	1	0	0	0	5531	478	17	4	2438	4	FAM171A1	10	15325940	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	7539858	15325940	120208807	128	92580											
CSTF2T	23283	broad.mit.edu	37	chr10	53459276	53459276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacggaacgcagtgatcgatCcattgccgggtctctcaccg	8	8	11	14	5	2	1	1	1	1	0	5	3	3	2	3	2	2	1	3	2	1	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:53459276C>A	ENST00000331173.4	-	1	79	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	12					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AGTGATCGATCCATTGCCGGG	0.522													14	168					3.32936e-07	3.70948e-07	1	0	A	53459276	C	A	53459276	3	1	480	1	0	0	0	0	1	0	0	0	4017	855	30	2	1820	2	CSTF2T	10	53459276	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	38133336	53459276	82075471	129	92581											
DCLRE1A	9937	broad.mit.edu	37	chr10	115603908	115603908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttctggtccgcaagaagaGaacgttccatgctgggatct	9	11	11	10	2	2	2	0	0	2	2	4	4	4	3	2	2	2	3	2	2	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:115603908G>C	ENST00000361384.2	-	5	3391	c.2474C>G	c.(2473-2475)tCt>tGt	p.S825C	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S825C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	825					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CGCAAGAAGAGAACGTTCCAT	0.453								Other identified genes with known or suspected DNA repair function					4	90					0	0	0	0	C	115603908	G	C	115603908	3	2	480	1	0	0	0	0	1	0	0	0	4326	942	33	2	668	2	DCLRE1A	10	115603908	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	62144632	115603908	19930839	130	92582											
DCLRE1A	9937	broad.mit.edu	37	chr10	115603955	115603955	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtctcccgtgtgtaatatGacagtaccattaggaagata	14	11	9	7	1	1	2	0	1	1	1	2	3	1	3	2	1	1	2	2	1	7	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:115603955G>C	ENST00000361384.2	-	5	3344	c.2427C>G	c.(2425-2427)gtC>gtG	p.V809V	DCLRE1A_ENST00000369305.1_Silent_p.V809V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	809					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGTGTAATATGACAGTACCAT	0.443								Other identified genes with known or suspected DNA repair function					6	79					0	0	0	0	C	115603955	G	C	115603955	2	2	480	1	0	0	0	0	0	0	0	1	4326	1277	45	2		2	DCLRE1A	10	115603955	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	47	115603955	19930792	131	92583											
KNDC1	85442	broad.mit.edu	37	chr10	135038267	135038267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaagcagaggattgcccGcttcagcggtgccgacattt	8	9	11	13	3	2	1	2	0	0	1	2	3	2	2	3	2	4	2	3	2	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:135038267G>A	ENST00000304613.3	+	30	5144	c.5123G>A	c.(5122-5124)cGc>cAc	p.R1708H	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1710H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1708	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.R1708H(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGATTGCCCGCTTCAGCGGT	0.587													8	38					0	0	0	0	A	135038267	G	A	135038267	3	1	480	1	0	0	0	0	1	0	0	0	8478	1087	38	1	5241	1	KNDC1	10	135038267	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	19434312	135038267	496480	132	92584											
MUC6	4588	broad.mit.edu	37	chr11	1017087	1017087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgctaaatgagcttgggGattggctggtcccactggtg	6	11	15	9	1	0	1	0	1	0	0	1	2	1	2	2	5	2	3	2	5	2	3	rs71472140		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:1017087G>T	ENST00000421673.2	-	31	5764	c.5714C>A	c.(5713-5715)tCc>tAc	p.S1905Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1905	Approximate repeats.|Thr-rich.			SP -> AA (in Ref. 5; AAA35866).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGCTTGGGGATTGGCTGGT	0.552													20	1105					3.27435e-08	3.67715e-08	1	0	T	1017087	G	T	1017087	3	4	480	1	0	0	0	0	1	0	0	0	10050	1174	41	2	1617	2	MUC6	11	1017087	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		1017087	133989429	133	92585											
MUC5B	727897	broad.mit.edu	37	chr11	1264910	1264910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaccgagtcacccccttCtccagggacgaccaccccgg	9	4	8	20	3	2	0	1	0	1	0	3	3	2	1	8	2	1	0	8	2	1	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:1264910C>T	ENST00000447027.1	+	31	6867	c.6809C>T	c.(6808-6810)tCt>tTt	p.S2270F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S2267F|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2267	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCACCCCCTTCTCCAGGGACG	0.672													11	201					0	0	0	0	T	1264910	C	T	1264910	3	4	480	1	0	0	0	0	1	0	0	0	10049	913	32	2	6931	2	MUC5B	11	1264910	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	247823	1264910	133741606	134	92586											
ZNF214	7761	broad.mit.edu	37	chr11	7021955	7021955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgtggactctttgatgaTtgtgaagactagagatctgg	9	14	13	5	0	2	5	0	3	2	2	2	7	2	6	0	2	0	0	0	2	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:7021955T>C	ENST00000278314.4	-	3	1274	c.959A>G	c.(958-960)aAt>aGt	p.N320S	ZNF214_ENST00000536068.1_Missense_Mutation_p.N320S	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTTTGATGATTGTGAAGACT	0.398													14	131					0	0	0	0	C	7021955	T	C	7021955	3	2	480	1	0	0	0	0	1	0	0	0	17865	1493	52	5	865	5	ZNF214	11	7021955	Missense_Mutation	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	5757045	7021955	127984561	135	92587											
SBF2	81846	broad.mit.edu	37	chr11	9801975	9801975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatgggcatcaggcatcaGagatacaactctggatcttg	12	9	10	10	0	4	1	2	0	2	1	4	3	4	2	1	3	2	2	1	3	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:9801975G>C	ENST00000256190.8	-	40	5677	c.5540C>G	c.(5539-5541)tCt>tGt	p.S1847C	SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1847	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCAGGCATCAGAGATACAACT	0.478													6	42					0	0	0	0	C	9801975	G	C	9801975	3	2	480	1	0	0	0	0	1	0	0	0	13945	942	33	2	13	2	SBF2	11	9801975	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	2780020	9801975	125204541	136	92588											
NAV2	89797	broad.mit.edu	37	chr11	20101610	20101610	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccctgccttggtctccagGaaacggcactgcccagtctg	7	8	10	16	1	2	0	0	0	2	0	3	1	2	1	4	3	3	1	4	3	1	1	rs143296630	byFrequency	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:20101610G>T	ENST00000396085.1	+	25	5541	c.5179_splice	c.e25-1	p.G1727_splice	NAV2_ENST00000349880.4_Splice_Site_p.G1727_splice|NAV2_ENST00000396087.3_Splice_Site_p.G1783_splice|NAV2_ENST00000360655.4_Splice_Site_p.G1663_splice|NAV2_ENST00000527559.2_Splice_Site_p.G1712_splice|NAV2_ENST00000533917.1_Splice_Site_p.G791_splice|NAV2_ENST00000540292.1_Splice_Site_p.G1714_splice|NAV2_ENST00000311043.8_Splice_Site_p.G791_splice	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1783						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGTCTCCAGGAAACGGCACT	0.577													7	46					8.12818e-05	8.7463e-05	1	0	T	20101610	G	T	20101610	5	4	480	1	0	0	0	0	0	0	1	0	10254	1188	41	2	5387	2	NAV2	11	20101610	Splice_Site	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	10299635	20101610	114904906	137	92589											
NAV2	89797	broad.mit.edu	37	chr11	20101734	20101734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatagagagtgactcaaaGaagaagaagcggaagaactg	20	4	12	5	1	1	6	1	1	0	5	1	8	1	7	0	1	3	0	0	1	8	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:20101734G>C	ENST00000396085.1	+	25	5665	c.5304G>C	c.(5302-5304)aaG>aaC	p.K1768N	NAV2_ENST00000349880.4_Missense_Mutation_p.K1768N|NAV2_ENST00000396087.3_Missense_Mutation_p.K1824N|NAV2_ENST00000360655.4_Missense_Mutation_p.K1704N|NAV2_ENST00000527559.2_Missense_Mutation_p.K1753N|NAV2_ENST00000533917.1_Missense_Mutation_p.K832N|NAV2_ENST00000540292.1_Missense_Mutation_p.K1755N|NAV2_ENST00000311043.8_Missense_Mutation_p.K832N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1824						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGACTCAAAGAAGAAGAAGC	0.567													4	23					0	0	0	0	C	20101734	G	C	20101734	3	2	480	1	0	0	0	0	1	0	0	0	10254	933	33	2	5511	2	NAV2	11	20101734	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	124	20101734	114904782	138	92590											
OR5D13	390142	broad.mit.edu	37	chr11	55540960	55540960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacacccacttttattcTcttgggtttttcagaatacc	9	15	5	12	0	2	1	1	0	1	1	3	1	2	1	2	1	2	2	2	1	3	7			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:55540960T>C	ENST00000361760.1	+	1	47	c.47T>C	c.(46-48)cTc>cCc	p.L16P		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACTTTTATTCTCTTGGGTTTT	0.383													6	222					0	0	0	0	C	55540960	T	C	55540960	3	2	480	1	0	0	0	0	1	0	0	0	11225	1551	54	5	49	5	OR5D13	11	55540960	Missense_Mutation	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	35439226	55540960	79465556	139	92591											
OR8I2	120586	broad.mit.edu	37	chr11	55860975	55860975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatgtactttttcctgagCaatttagcatttattgacat	10	18	5	8	0	0	2	0	2	0	0	1	2	1	2	2	0	3	3	2	0	5	9			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:55860975C>A	ENST00000302124.2	+	1	223	c.192C>A	c.(190-192)agC>agA	p.S64R	OR8I2_ENST00000560768.1_Missense_Mutation_p.S64R			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTTCCTGAGCAATTTAGCAT	0.393													17	209					4.7546e-09	5.38221e-09	1	0	A	55860975	C	A	55860975	3	1	480	1	0	0	0	0	1	0	0	0	11311	709	25	4	194	4	OR8I2	11	55860975	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	320015	55860975	79145541	140	92592											
OR5T2	219464	broad.mit.edu	37	chr11	56000657	56000657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctcttgtatatactgtacGacatatattcagcagtgcat	11	15	7	8	1	2	0	1	0	1	0	2	1	2	0	0	0	5	5	0	0	6	8	rs113109292	by1000genomes	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:56000657G>C	ENST00000313264.4	-	1	80	c.5C>G	c.(4-6)tCg>tGg	p.S2W		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TATACTGTACGACATATATTC	0.378													5	123					0	0	0	0	C	56000657	G	C	56000657	3	2	480	1	0	0	0	0	1	0	0	0	11253	1059	37	3	1073	3	OR5T2	11	56000657	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	139682	56000657	79005859	141	92593											
OR5M11	219487	broad.mit.edu	37	chr11	56310057	56310057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctctgctgatttgatcCggaggatggcagcaagaatg	9	11	12	9	1	1	3	0	2	1	1	3	5	3	5	2	3	2	3	2	3	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:56310057C>T	ENST00000528616.2	-	1	700	c.677G>A	c.(676-678)cGg>cAg	p.R226Q		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGATTTGATCCGGAGGATGGC	0.493													9	62					0	0	0	0	T	56310057	C	T	56310057	3	4	480	1	0	0	0	0	1	0	0	0	11245	652	23	1	243	1	OR5M11	11	56310057	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	309400	56310057	78696459	142	92594											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57069412	57069412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcacccgagatgcccGtggctctgcaaaggcccggg	8	5	15	13	3	1	2	0	0	1	2	1	3	1	2	3	4	2	3	3	4	1	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:57069412G>A	ENST00000532437.1	-	8	5151	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1614W			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1614	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CGAGATGCCCGTGGCTCTGCA	0.587													4	69					0	0	0	0	A	57069412	G	A	57069412	3	1	480	1	0	0	0	0	1	0	0	0	16414	1144	40	1	361	1	TNKS1BP1	11	57069412	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	759355	57069412	77937104	143	92595											
SERPING1	710	broad.mit.edu	37	chr11	57367739	57367739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtgttgggggatgctttgGtagatttctccctgaagctc	5	14	13	9	1	1	2	0	1	1	1	3	3	1	3	2	3	2	4	2	3	2	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:57367739G>A	ENST00000403558.1	+	2	907	c.541G>A	c.(541-543)Gta>Ata	p.V181I	SERPING1_ENST00000378323.4_Missense_Mutation_p.V152I|SERPING1_ENST00000378324.2_Missense_Mutation_p.V95I|SERPING1_ENST00000278407.4_Missense_Mutation_p.V147I|SERPING1_ENST00000340687.6_Missense_Mutation_p.V147I	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	147					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GGATGCTTTGGTAGATTTCTC	0.542													31	155					0	0	0	0	A	57367739	G	A	57367739	3	1	480	1	0	0	0	0	1	0	0	0	14203	1261	44	4	445	4	SERPING1	11	57367739	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	298327	57367739	77638777	144	92596											
PGA5	5222	broad.mit.edu	37	chr11	61015925	61015925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtggtgatctttggtGgcattgactcttcttactac	6	15	11	9	1	3	2	0	2	3	0	3	2	3	2	0	3	3	2	0	3	2	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:61015925G>A	ENST00000312403.5	+	6	876	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Missense_Mutation_p.G231S|PGA5_ENST00000451616.2_Missense_Mutation_p.G77S	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	231					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						GATCTTTGGTGGCATTGACTC	0.498													57	314					0	0	0	0	A	61015925	G	A	61015925	3	1	480	1	0	0	0	0	1	0	0	0	11844	1348	47	4	713	4	PGA5	11	61015925	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3648186	61015925	73990591	145	92597											
CPSF7	79869	broad.mit.edu	37	chr11	61183152	61183152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttacctgcactggctccaGatactgctttggaaatggca	10	11	10	10	0	0	1	0	0	0	1	1	2	1	2	2	3	4	5	2	3	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:61183152G>C	ENST00000340437.4	-	7	1279	c.1199C>G	c.(1198-1200)tCt>tGt	p.S400C	CPSF7_ENST00000394888.4_Missense_Mutation_p.S357C|CPSF7_ENST00000439958.3_Missense_Mutation_p.S348C|CPSF7_ENST00000448745.1_Missense_Mutation_p.S348C	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	357					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTGGCTCCAGATACTGCTTT	0.443													6	74					0	0	0	0	C	61183152	G	C	61183152	3	2	480	1	0	0	0	0	1	0	0	0	3860	942	33	2	357	2	CPSF7	11	61183152	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	167227	61183152	73823364	146	92598											
CPSF7	79869	broad.mit.edu	37	chr11	61183233	61183233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcggcttcactcactgtaGagggtggagggcccgaatct	8	10	13	10	2	3	1	2	0	1	1	4	3	3	2	1	4	0	2	1	4	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:61183233G>C	ENST00000340437.4	-	7	1198	c.1118C>G	c.(1117-1119)tCt>tGt	p.S373C	CPSF7_ENST00000394888.4_Missense_Mutation_p.S330C|CPSF7_ENST00000439958.3_Missense_Mutation_p.S321C|CPSF7_ENST00000448745.1_Missense_Mutation_p.S321C	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	330					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTCACTGTAGAGGGTGGAGG	0.438													8	93					0	0	0	0	C	61183233	G	C	61183233	3	2	480	1	0	0	0	0	1	0	0	0	3860	942	33	2	438	2	CPSF7	11	61183233	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	81	61183233	73823283	147	92599											
SCGB1D4	404552	broad.mit.edu	37	chr11	62065028	62065028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttggctgcaagagcttctGgaggtggattaagtttggca	9	12	14	6	0	1	1	0	0	1	1	1	3	1	3	0	5	2	5	0	5	2	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:62065028G>T	ENST00000358585.1	-	2	211	c.158C>A	c.(157-159)cCa>cAa	p.P53Q		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	53						extracellular region	binding			lung(1)|prostate(1)	2						AAGAGCTTCTGGAGGTGGATT	0.443													24	234					1.10923e-09	1.26578e-09	1	0	T	62065028	G	T	62065028	3	4	480	1	0	0	0	0	1	0	0	0	13984	1348	47	4	101	4	SCGB1D4	11	62065028	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	881795	62065028	72941488	148	92600											
NUDT22	84304	broad.mit.edu	37	chr11	63994239	63994239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccactgccaggtggggacGaggccatcactgccatctgg	7	6	14	14	1	2	0	1	0	1	0	2	2	2	1	4	5	2	0	4	5	0	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:63994239G>A	ENST00000279206.3	+	2	271	c.115G>A	c.(115-117)Gag>Aag	p.E39K	NUDT22_ENST00000441250.2_Missense_Mutation_p.E39K	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	39							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						AGGTGGGGACGAGGCCATCAC	0.687													10	68					0	0	0	0	A	63994239	G	A	63994239	3	1	480	1	0	0	0	0	1	0	0	0	10810	1059	37	1	117	1	NUDT22	11	63994239	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1929211	63994239	71012277	149	92601											
DPP3	10072	broad.mit.edu	37	chr11	66276608	66276608	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggcctcatccgatccttCtctgagcgtttcccagagga	6	11	10	14	2	2	2	1	1	1	1	6	4	5	3	4	2	1	2	4	2	0	2	rs139936930		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:66276608C>G	ENST00000532677.1	+	18	2558	c.2157C>G	c.(2155-2157)ttC>ttG	p.F719L	CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.F700L|DPP3_ENST00000530165.1_Missense_Mutation_p.F670L|DPP3_ENST00000531863.1_Missense_Mutation_p.F720L|DPP3_ENST00000541961.1_Missense_Mutation_p.F700L|DPP3_ENST00000360510.2_Missense_Mutation_p.F700L	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	700					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.F700F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCCGATCCTTCTCTGAGCGTT	0.592													9	53					0	0	0	0	G	66276608	C	G	66276608	3	3	480	1	0	0	0	0	1	0	0	0	4764	912	32	2	2166	2	DPP3	11	66276608	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	2282369	66276608	68729908	150	92602											
NDUFV1	4723	broad.mit.edu	37	chr11	67376948	67376948	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatctggtggtgaacgcaGacgagggggagccgggcacc	9	5	18	9	3	1	2	0	1	1	1	1	4	1	3	2	5	2	3	2	5	2	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:67376948G>C	ENST00000322776.6	+	4	505	c.352G>C	c.(352-354)Gac>Cac	p.D118H	NDUFV1_ENST00000532303.1_Missense_Mutation_p.D17H|NDUFV1_ENST00000529927.1_Missense_Mutation_p.D109H|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000415352.2_Missense_Mutation_p.D111H	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	118					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGTGAACGCAGACGAGGGGGA	0.652													23	100					0	0	0	0	C	67376948	G	C	67376948	3	2	480	1	0	0	0	0	1	0	0	0	10369	942	33	2	366	2	NDUFV1	11	67376948	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1100340	67376948	67629568	151	92603											
UCP3	7352	broad.mit.edu	37	chr11	73716916	73716916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacatctgtgggctgggCacaggtcaccgccatggctc	7	7	12	15	1	2	0	1	0	1	0	3	0	2	0	3	4	0	3	3	4	0	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:73716916C>A	ENST00000314032.4	-	4	952	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Missense_Mutation_p.A134S	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	134					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GTGGGCTGGGCACAGGTCACC	0.612													7	59					0.0293803	0.0298016	1	0	A	73716916	C	A	73716916	3	1	480	1	0	0	0	0	1	0	0	0	17028	710	25	4	558	4	UCP3	11	73716916	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	6339968	73716916	61289600	152	92604											
MMP13	4322	broad.mit.edu	37	chr11	102826059	102826059	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacatcaggaaccccgcatCttggctttttcatgacatct	9	12	6	14	1	4	1	2	1	2	0	4	2	4	2	3	2	1	2	3	2	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:102826059C>G	ENST00000260302.3	-	2	312	c.284G>C	c.(283-285)aGa>aCa	p.R95T	MMP13_ENST00000340273.4_Missense_Mutation_p.R95T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	95					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AACCCCGCATCTTGGCTTTTT	0.428													21	132					0	0	0	0	G	102826059	C	G	102826059	3	3	480	1	0	0	0	0	1	0	0	0	9721	913	32	2	1167	2	MMP13	11	102826059	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	29109143	102826059	32180457	153	92605											
IFFO1	25900	broad.mit.edu	37	chr12	6659915	6659915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttcaactgttccaccttCagtgccagctcctcctggca	6	11	7	17	0	2	0	2	0	0	0	5	0	5	0	6	1	3	3	6	1	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:6659915C>T	ENST00000336604.4	-	3	917	c.876G>A	c.(874-876)ctG>ctA	p.L292L	IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L292L|IFFO1_ENST00000465801.1_5'UTR|IFFO1_ENST00000396840.2_Silent_p.L292L	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	292						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTTCCACCTTCAGTGCCAGCT	0.582													9	40					0	0	0	0	T	6659915	C	T	6659915	2	4	480	1	0	0	0	0	0	0	0	1	7563	813	29	2		2	IFFO1	12	6659915	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08		6659915	127191980	154	92606											
CD163	9332	broad.mit.edu	37	chr12	7639514	7639514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggccacagcactttcttCtggaatggtaggccttgttg	7	12	12	10	0	2	0	0	0	2	0	2	1	2	1	2	4	1	4	2	4	2	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:7639514C>T	ENST00000359156.4	-	9	2321	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	CD163_ENST00000396620.3_Missense_Mutation_p.E740K|CD163_ENST00000432237.2_Missense_Mutation_p.E707K|CD163_ENST00000541972.1_Missense_Mutation_p.E695K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	707					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCACTTTCTTCTGGAATGGTA	0.408													24	98					0	0	0	0	T	7639514	C	T	7639514	3	4	480	1	0	0	0	0	1	0	0	0	2996	922	32	2	1383	2	CD163	12	7639514	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	979599	7639514	126212381	155	92607											
CCNT1	904	broad.mit.edu	37	chr12	49088077	49088077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaaggcactgcacttGtggtagaagttgacatgctc	10	9	14	8	0	0	2	0	1	0	1	1	3	0	3	0	3	2	6	0	3	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:49088077G>T	ENST00000261900.3	-	9	1142	c.920C>A	c.(919-921)aCa>aAa	p.T307K		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	307					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CACTGCACTTGTGGTAGAAGT	0.488													7	79					0.000157383	0.00016871	1	0	T	49088077	G	T	49088077	3	4	480	1	0	0	0	0	1	0	0	0	2963	1377	48	4	1264	4	CCNT1	12	49088077	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	41448563	49088077	84763818	156	92608											
KRT85	3891	broad.mit.edu	37	chr12	52758751	52758751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctgcactcacttcttCttgtagccctccagcacctc	5	13	6	17	0	3	0	1	0	2	0	5	0	4	0	3	0	4	5	3	0	1	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:52758751C>A	ENST00000257901.3	-	2	699	c.624G>T	c.(622-624)aaG>aaT	p.K208N		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	208	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCACTTCTTCTTGTAGCCCT	0.607													7	132					0.00198382	0.00206405	1	0	A	52758751	C	A	52758751	3	1	480	1	0	0	0	0	1	0	0	0	8551	912	32	2	931	2	KRT85	12	52758751	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	3670674	52758751	81093144	157	92609											
EIF4B	1975	broad.mit.edu	37	chr12	53400278	53400278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcccaacatggcggcctCaggtgagcgagcagccgagc	8	5	13	15	3	2	1	1	1	1	0	3	3	2	1	3	3	5	1	3	3	1	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:53400278C>T	ENST00000262056.9	+	1	337	c.11C>T	c.(10-12)tCa>tTa	p.S4L	EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.S4L|EIF4B_ENST00000416762.3_Missense_Mutation_p.S4L	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	4					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ATGGCGGCCTCAGGTGAGCGA	0.612													15	135					0	0	0	0	T	53400278	C	T	53400278	3	4	480	1	0	0	0	0	1	0	0	0	5065	838	29	2	13	2	EIF4B	12	53400278	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	641527	53400278	80451617	158	92610											
MBD6	114785	broad.mit.edu	37	chr12	57918797	57918797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggggtggggccagcatCagaggaggacatgaccaagc	10	4	18	9	0	1	2	1	1	0	1	1	4	1	4	2	7	2	2	2	7	1	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:57918797C>T	ENST00000355673.3	+	5	634	c.278C>T	c.(277-279)tCa>tTa	p.S93L	MBD6_ENST00000431731.2_Missense_Mutation_p.S93L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	93						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGGCCAGCATCAGAGGAGGAC	0.597													15	139					0	0	0	0	T	57918797	C	T	57918797	3	4	480	1	0	0	0	0	1	0	0	0	9417	838	29	2	288	2	MBD6	12	57918797	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	4518519	57918797	75933098	159	92611											
AVPR1A	552	broad.mit.edu	37	chr12	63541270	63541270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcatactgtcagtatcttCtttgttgaatttttccttca	7	20	5	9	0	5	1	3	1	2	0	6	1	6	1	1	0	1	3	1	0	3	8			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:63541270C>G	ENST00000299178.2	-	2	1231	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	376					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCAGTATCTTCTTTGTTGAAT	0.403													21	130					0	0	0	0	G	63541270	C	G	63541270	3	3	480	1	0	0	0	0	1	0	0	0	1235	922	32	2	134	2	AVPR1A	12	63541270	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	5622473	63541270	70310625	160	92612											
IRAK3	11213	broad.mit.edu	37	chr12	66603261	66603261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttgagtccttcagagaaGagttatcaggaaggtggatt	11	12	14	4	0	2	3	2	1	0	2	3	6	3	5	1	3	0	2	1	3	3	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:66603261G>C	ENST00000261233.4	+	3	763	c.342G>C	c.(340-342)aaG>aaC	p.K114N	IRAK3_ENST00000457197.2_Missense_Mutation_p.K53N	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	114					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTTCAGAGAAGAGTTATCAGG	0.348													5	89					0	0	0	0	C	66603261	G	C	66603261	3	2	480	1	0	0	0	0	1	0	0	0	7877	933	33	2	352	2	IRAK3	12	66603261	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3061991	66603261	67248634	161	92613											
ZFC3H1	196441	broad.mit.edu	37	chr12	72022728	72022728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtcctgtagactgttcctCatcactactgaagctattat	9	15	7	10	0	2	2	2	1	0	1	4	2	4	2	2	1	2	3	2	1	5	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:72022728C>T	ENST00000378743.3	-	20	4274	c.3916G>A	c.(3916-3918)Gag>Aag	p.E1306K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1306					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGTTCCTCATCACTACTG	0.328													11	88					0	0	0	0	T	72022728	C	T	72022728	3	4	480	1	0	0	0	0	1	0	0	0	17728	835	29	2	2117	2	ZFC3H1	12	72022728	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	5419467	72022728	61829167	162	92614											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75763946	75763946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaggttttcttcttctgaGaatcttttaatgtcatttat	8	22	5	6	0	5	1	1	1	4	1	5	2	5	1	0	1	0	1	0	1	4	9			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:75763946G>C	ENST00000312442.2	+	5	738	c.692G>C	c.(691-693)aGa>aCa	p.R231T	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.R240T|GLIPR1L1_ENST00000548623.1_3'UTR	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	240						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CTTCTTCTGAGAATCTTTTAA	0.313													7	55					0	0	0	0	C	75763946	G	C	75763946	3	2	480	1	0	0	0	0	1	0	0	0	6493	942	33	2	710	2	GLIPR1L1	12	75763946	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3741218	75763946	58087949	163	92615											
CDK17	5128	broad.mit.edu	37	chr12	96674555	96674555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacgcaaaaattcatgatCgacacgtgaaatggtttatg	14	11	8	8	3	1	2	1	2	0	0	3	3	2	2	1	1	0	2	1	1	4	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:96674555C>T	ENST00000543119.2	-	16	2088	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q	CDK17_ENST00000542666.1_Missense_Mutation_p.R469Q|CDK17_ENST00000261211.3_Intron			Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	0							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AATTCATGATCGACACGTGAA	0.348													10	38					0	0	0	0	T	96674555	C	T	96674555	3	4	480	1	0	0	0	0	1	0	0	0	3162	884	31	1	52	1	CDK17	12	96674555	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	20910609	96674555	37177340	164	92616											
RNF34	80196	broad.mit.edu	37	chr12	121837952	121837952	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggaaggaggtcggcagTgtgaggagctgctatggtgc	9	7	20	5	1	0	2	0	1	0	1	1	5	0	5	0	6	3	3	0	6	2	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:121837952T>A	ENST00000361234.5	+	0	109				RNF34_ENST00000555076.1_De_novo_Start_InFrame|RNF34_ENST00000392464.2_De_novo_Start_InFrame|RNF34_ENST00000392465.3_De_novo_Start_InFrame	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase						apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AGGTCGGCAGTGTGAGGAGCT	0.701													3	7					0	0	0	0	A	121837952	T	A	121837952	1	1	480	1	0	0	0	0	0	0	0	0	13574	1711	59	5		5	RNF34	12	121837952	Translation_Start_Site	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	25163397	121837952	12013943	165	92617											
MLXIP	22877	broad.mit.edu	37	chr12	122625503	122625503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaaccacacactgcagttCagcatcatcatcaagccgct	12	10	5	14	1	4	0	4	0	0	0	4	0	4	0	2	0	4	4	2	0	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:122625503C>T	ENST00000319080.6	+	16	2643	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	MLXIP_ENST00000538698.1_Silent_p.F444F			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	837	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CACTGCAGTTCAGCATCATCA	0.607													18	79					0	0	0	0	T	122625503	C	T	122625503	2	4	480	1	0	0	0	0	0	0	0	1	9705	825	29	2		2	MLXIP	12	122625503	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	787551	122625503	11226392	166	92618											
GOLGA3	2802	broad.mit.edu	37	chr12	133389906	133389906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaccctctcctgctggCgcttcaccctgtactgtttg	4	13	8	16	1	3	0	2	0	1	0	4	1	3	0	3	1	2	4	3	1	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:133389906C>T	ENST00000204726.3	-	4	1064	c.506G>A	c.(505-507)cGc>cAc	p.R169H	GOLGA3_ENST00000450791.2_Missense_Mutation_p.R169H|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R169H|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R169H|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R169H	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	169					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCTGCTGGCGCTTCACCCT	0.587													6	24					0	0	0	0	T	133389906	C	T	133389906	3	4	480	1	0	0	0	0	1	0	0	0	6605	768	27	1	4212	1	GOLGA3	12	133389906	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	10764403	133389906	461989	167	92619											
ZNF10	7556	broad.mit.edu	37	chr12	133727683	133727683	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagctgctggacactgctCagcagatcgtgtacagaaat	12	8	12	9	1	1	2	1	0	0	2	2	4	1	4	0	2	5	5	0	2	3	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:133727683C>T	ENST00000248211.6	+	3	325	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	ZNF268_ENST00000416488.1_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000402932.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000426665.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000540927.1_3'UTR|CTD-2140B24.4_ENST00000540096.2_Nonsense_Mutation_p.Q35*	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGACACTGCTCAGCAGATCGT	0.443													16	90					0	0	0	0	T	133727683	C	T	133727683	4	4	480	1	0	0	0	0	0	1	0	0	17807	827	29	2	109	2	ZNF10	12	133727683	Nonsense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	337777	133727683	124212	168	92620											
TUBA3C	7278	broad.mit.edu	37	chr13	19753597	19753597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaatggttttatcacttGgcatctgaccatcgggctga	9	12	9	11	1	2	2	1	2	1	0	3	2	2	2	2	3	0	3	2	3	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:19753597G>A	ENST00000400113.3	-	2	214	c.110C>T	c.(109-111)cCa>cTa	p.P37L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	37					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTTATCACTTGGCATCTGACC	0.547													16	130					0	0	0	0	A	19753597	G	A	19753597	3	1	480	1	0	0	0	0	1	0	0	0	16842	1348	47	4	1258	4	TUBA3C	13	19753597	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		19753597	95416281	169	92621											
STARD13	90627	broad.mit.edu	37	chr13	33716499	33716499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggcacacttgttcaacGtatttagtcgtctaaaagga	12	13	9	7	2	2	1	1	1	1	0	3	2	2	2	0	2	1	3	0	2	5	7			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:33716499G>A	ENST00000336934.5	-	4	451	c.335C>T	c.(334-336)aCg>aTg	p.T112M	STARD13_ENST00000255486.4_Missense_Mutation_p.T104M|STARD13_ENST00000399365.3_De_novo_Start_InFrame|STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	112	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTTGTTCAACGTATTTAGTCG	0.358													13	107					0	0	0	0	A	33716499	G	A	33716499	3	1	480	1	0	0	0	0	1	0	0	0	15346	1145	40	1	3050	1	STARD13	13	33716499	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	13962902	33716499	81453379	170	92622											
ESD	2098	broad.mit.edu	37	chr13	47354167	47354167	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggagcaaatgctgacacaGacttcagaaacaaaagaaat	19	7	8	7	0	1	4	1	1	0	3	1	5	1	5	0	1	3	2	0	1	5	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:47354167G>A	ENST00000378720.3	-	8	685	c.501_splice	c.e8-1	p.S168_splice	ESD_ENST00000378697.1_Splice_Site_p.S139_splice|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	168						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TGCTGACACAGACTTCAGAAA	0.318													25	94					0	0	0	0	A	47354167	G	A	47354167	5	1	480	1	0	0	0	0	0	0	1	0	5288	956	33	2	357	2	ESD	13	47354167	Splice_Site	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	13637668	47354167	67815711	171	92623											
PCDH17	27253	broad.mit.edu	37	chr13	58208458	58208458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctgcagaacgacaccgCggagctgcaggtgccgcgca	9	3	14	15	6	0	1	0	0	0	1	0	3	0	2	2	2	5	5	2	2	1	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:58208458C>T	ENST00000377918.3	+	1	1804	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	593	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACGACACCGCGGAGCTGCAG	0.657													7	48					0	0	0	0	T	58208458	C	T	58208458	3	4	480	1	0	0	0	0	1	0	0	0	11583	768	27	1	1780	1	PCDH17	13	58208458	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	10854291	58208458	56961420	172	92624											
PCDH20	64881	broad.mit.edu	37	chr13	61986156	61986156	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagactttagccctcagcatAccctttcctgtatctatgac	9	13	6	13	0	2	2	1	1	1	1	3	3	3	2	3	0	3	2	3	0	4	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:61986156A>G	ENST00000409186.1	-	5	4181	c.2076T>C	c.(2074-2076)ggT>ggC	p.G692G	PCDH20_ENST00000409204.4_Silent_p.G692G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	665	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCCTCAGCATACCCTTTCCTG	0.488													24	79					0	0	0	0	G	61986156	A	G	61986156	2	3	480	1	0	0	0	0	0	0	0	1	11586	378	14	5		5	PCDH20	13	61986156	Silent	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	3777698	61986156	53183722	173	92625											
DACH1	1602	broad.mit.edu	37	chr13	72134001	72134001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggagctggacacgctGctgctgcgatgtgatgatgg	7	8	18	8	2	0	2	0	2	0	0	0	5	0	4	0	4	4	5	0	4	0	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:72134001G>A	ENST00000305425.4	-	5	1814	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Silent_p.S516S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	514					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGACACGCTGCTGCTGCGAT	0.547													8	26					0	0	0	0	A	72134001	G	A	72134001	2	1	480	1	0	0	0	0	0	0	0	1	4253	1310	46	4		4	DACH1	13	72134001	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	10147845	72134001	43035877	174	92626											
G2E3	55632	broad.mit.edu	37	chr14	31071207	31071207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaatttaaatctgtaggaGagttccaaaaagccaaaaaa	20	8	8	5	0	1	1	0	0	1	1	2	3	2	2	2	2	1	2	2	2	9	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:31071207G>A	ENST00000206595.6	+	10	1034	c.880G>A	c.(880-882)Gag>Aag	p.E294K	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.E324K|G2E3_ENST00000438909.2_Missense_Mutation_p.E248K	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	294					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCTGTAGGAGAGTTCCAAAA	0.284													5	46					0	0	0	0	A	31071207	G	A	31071207	3	1	480	1	0	0	0	0	1	0	0	0	6188	943	33	2	914	2	G2E3	14	31071207	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		31071207	76278333	175	92627											
AKAP6	9472	broad.mit.edu	37	chr14	33015613	33015613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactcagagcagtgaatcctCtgttggctcagacaacatca	12	10	8	11	0	4	3	3	1	1	2	5	3	5	3	1	1	3	3	1	1	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:33015613C>G	ENST00000280979.4	+	4	1924	c.1754C>G	c.(1753-1755)tCt>tGt	p.S585C	AKAP6_ENST00000557354.1_Missense_Mutation_p.S585C|AKAP6_ENST00000557272.1_Missense_Mutation_p.S585C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	585					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTGAATCCTCTGTTGGCTCA	0.448													21	99					0	0	0	0	G	33015613	C	G	33015613	3	3	480	1	0	0	0	0	1	0	0	0	455	913	32	2	1764	2	AKAP6	14	33015613	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1944406	33015613	74333927	176	92628											
WDHD1	11169	broad.mit.edu	37	chr14	55429793	55429793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagccagtattaatttccgaGagcgagaagcatatttaatg	14	11	10	6	2	0	2	0	0	0	2	1	5	1	2	2	0	3	2	2	0	5	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:55429793G>C	ENST00000360586.3	-	19	2473	c.2408C>G	c.(2407-2409)tCt>tGt	p.S803C	WDHD1_ENST00000420358.2_Missense_Mutation_p.S680C|WDHD1_ENST00000421192.1_Missense_Mutation_p.S680C|WDHD1_ENST00000359167.4_Missense_Mutation_p.S321C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	803						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TAATTTCCGAGAGCGAGAAGC	0.418													12	59					0	0	0	0	C	55429793	G	C	55429793	3	2	480	1	0	0	0	0	1	0	0	0	17367	942	33	2	1013	2	WDHD1	14	55429793	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	22414180	55429793	51919747	177	92629											
PCNX	22990	broad.mit.edu	37	chr14	71444826	71444826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtttctggtaccaagcCacacagtgctatattttgtc	9	14	9	9	0	1	0	0	0	1	0	2	0	1	0	2	2	3	3	2	2	4	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:71444826C>A	ENST00000304743.2	+	6	2218	c.1772C>A	c.(1771-1773)cCa>cAa	p.P591Q	PCNX_ENST00000439984.3_Missense_Mutation_p.P591Q|PCNX_ENST00000238570.5_Missense_Mutation_p.P591Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	591						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGTACCAAGCCACACAGTGCT	0.468													14	114					7.93312e-07	8.80421e-07	1	0	A	71444826	C	A	71444826	3	1	480	1	0	0	0	0	1	0	0	0	11662	594	21	4	1794	4	PCNX	14	71444826	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	16015033	71444826	35904714	178	92630											
TRIP11	9321	broad.mit.edu	37	chr14	92436038	92436038	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgctttaaaaggtctttCagcacaaccccagcactgtt	11	13	6	11	0	2	0	1	0	1	0	2	0	2	0	2	1	4	4	2	1	4	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:92436038C>T	ENST00000267622.4	-	21	6292	c.5919G>A	c.(5917-5919)ctG>ctA	p.L1973L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1973					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAGGTCTTTCAGCACAACCC	0.438			T	PDGFRB	AML								11	95					0	0	0	0	T	92436038	C	T	92436038	2	4	480	1	0	0	0	0	0	0	0	1	16650	813	29	2		2	TRIP11	14	92436038	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	20991212	92436038	14913502	179	92631											
ATG2B	55102	broad.mit.edu	37	chr14	96771954	96771954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttagccggagaagtgggagGgactattccaaaatcctttc	11	11	11	8	1	0	1	0	0	0	1	3	4	2	3	3	3	1	0	3	3	5	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:96771954G>A	ENST00000359933.4	-	31	5598	c.4705C>T	c.(4705-4707)Cct>Tct	p.P1569S	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1569										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAAGTGGGAGGGACTATTCCA	0.378													10	50					0	0	0	0	A	96771954	G	A	96771954	3	1	480	1	0	0	0	0	1	0	0	0	1098	1232	43	4	1579	4	ATG2B	14	96771954	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	4335916	96771954	10577586	180	92632											
AQR	9716	broad.mit.edu	37	chr15	35166957	35166957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcgagtgaagagagactgctCcatgtttgagtacttttgaa	11	12	12	6	1	0	5	0	3	0	2	1	7	1	5	1	0	2	3	1	0	3	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr15:35166957C>G	ENST00000156471.5	-	29	3571	c.3346G>C	c.(3346-3348)Gag>Cag	p.E1116Q		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1116						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGAGACTGCTCCATGTTTGAG	0.443													7	95					0	0	0	0	G	35166957	C	G	35166957	3	3	480	1	0	0	0	0	1	0	0	0	837	864	30	2	1139	2	AQR	15	35166957	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08		35166957	67364435	181	92633											
TBC1D24	57465	broad.mit.edu	37	chr16	2546545	2546545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgacatctccttctgcccCgccctgccggccgtggtggc	2	8	11	20	4	2	0	0	0	2	0	3	1	2	0	7	3	2	0	7	3	0	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:2546545C>T	ENST00000567020.1	+	2	536	c.396C>T	c.(394-396)ccC>ccT	p.P132P	RP11-20I23.1_ENST00000564543.1_Silent_p.P132P|TBC1D24_ENST00000434757.2_Silent_p.P132P|TBC1D24_ENST00000293970.5_Silent_p.P132P	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	132	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCTTCTGCCCCGCCCTGCCGG	0.682													7	59					0	0	0	0	T	2546545	C	T	2546545	2	4	480	1	0	0	0	0	0	0	0	1	15705	639	23	1		1	TBC1D24	16	2546545	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08		2546545	87808208	182	92634											
ZSCAN10	84891	broad.mit.edu	37	chr16	3141583	3141583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttattctctggcacatcctCaaaggtcaggcactcctgta	9	12	7	13	0	3	0	2	0	1	0	6	0	5	0	2	3	0	3	2	3	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:3141583C>T	ENST00000252463.2	-	4	667	c.580G>A	c.(580-582)Gag>Aag	p.E194K	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.E112K	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	194					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGCACATCCTCAAAGGTCAGG	0.512													5	62					0	0	0	0	T	3141583	C	T	3141583	3	4	480	1	0	0	0	0	1	0	0	0	18320	835	29	2	1605	2	ZSCAN10	16	3141583	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	595038	3141583	87213170	183	92635											
ZNF213	7760	broad.mit.edu	37	chr16	3187479	3187479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgaggccttcagccagctCtgggagctctgctgccgctg	5	9	13	14	1	3	1	1	1	2	0	3	2	3	2	3	2	5	4	3	2	0	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:3187479C>T	ENST00000396878.3	+	2	673	c.198C>T	c.(196-198)ctC>ctT	p.L66L	ZNF213_ENST00000576416.1_Silent_p.L66L|ZNF213_ENST00000574902.1_Silent_p.L66L|ZNF213_ENST00000416391.2_5'UTR	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	66	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TCAGCCAGCTCTGGGAGCTCT	0.652													9	100					0	0	0	0	T	3187479	C	T	3187479	2	4	480	1	0	0	0	0	0	0	0	1	17864	900	32	2		2	ZNF213	16	3187479	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	45896	3187479	87167274	184	92636											
GLYR1	84656	broad.mit.edu	37	chr16	4871597	4871597	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctggtaacagacagctGgctaatgaaggaggaggaaa	14	7	14	6	0	0	2	0	1	0	1	0	5	0	5	1	5	3	3	1	5	4	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:4871597G>A	ENST00000321919.9	-	8	759	c.681_splice	c.e8-1	p.P228_splice	GLYR1_ENST00000591451.1_Splice_Site_p.P228_splice|GLYR1_ENST00000436648.5_Splice_Site_p.P147_splice|GLYR1_ENST00000381983.3_Intron	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	228					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ACAGACAGCTGGCTAATGAAG	0.443													11	95					0	0	0	0	A	4871597	G	A	4871597	5	1	480	1	0	0	0	0	0	0	1	0	6534	1362	47	4	1014	4	GLYR1	16	4871597	Splice_Site	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1684118	4871597	85483156	185	92637											
UBN1	29855	broad.mit.edu	37	chr16	4924259	4924259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctgtcccatcaggacaGattggtggccccattgcttt	6	14	10	11	0	2	1	1	0	1	1	3	2	3	2	3	3	1	2	3	3	0	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:4924259G>A	ENST00000396658.4	+	14	2551	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	UBN1_ENST00000545171.1_Silent_p.Q616Q|UBN1_ENST00000262376.6_Silent_p.Q616Q|UBN1_ENST00000590769.1_Silent_p.Q616Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	616					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CATCAGGACAGATTGGTGGCC	0.507													22	250					0	0	0	0	A	4924259	G	A	4924259	2	1	480	1	0	0	0	0	0	0	0	1	16988	933	33	2		2	UBN1	16	4924259	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	52662	4924259	85430494	186	92638											
COG7	91949	broad.mit.edu	37	chr16	23436185	23436185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctctccacgccgttgctGaggcaggagggcagcgaggg	6	5	17	13	3	1	1	0	1	1	0	2	3	1	2	3	4	2	4	3	4	0	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:23436185G>A	ENST00000307149.5	-	7	1079	c.894C>T	c.(892-894)ctC>ctT	p.L298L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	298					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CGCCGTTGCTGAGGCAGGAGG	0.647													9	71					0	0	0	0	A	23436185	G	A	23436185	2	1	480	1	0	0	0	0	0	0	0	1	3693	1277	45	2		2	COG7	16	23436185	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	18511926	23436185	66918568	187	92639											
CDH5	1003	broad.mit.edu	37	chr16	66426264	66426264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgctggccatggaccctGatgcggctaggcatagcatt	8	9	13	11	1	0	1	0	1	0	0	0	2	0	2	2	4	3	4	2	4	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:66426264G>A	ENST00000341529.3	+	7	1343	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	CDH5_ENST00000563425.2_Missense_Mutation_p.D399N	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	399	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CATGGACCCTGATGCGGCTAG	0.557													26	74					0	0	0	0	A	66426264	G	A	66426264	3	1	480	1	0	0	0	0	1	0	0	0	3142	1290	45	2	1217	2	CDH5	16	66426264	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	42990079	66426264	23928489	188	92640											
NAE1	8883	broad.mit.edu	37	chr16	66847750	66847750	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaatactgcttgggatCtaacaaaggaacatgaaaca	16	10	7	8	0	3	1	1	1	2	0	3	3	3	3	0	2	5	1	0	2	6	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:66847750C>A	ENST00000379463.2	-	13	1015		c.e13-1		NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site|NAE1_ENST00000359087.4_Splice_Site	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TGCTTGGGATCTAACAAAGGA	0.303													4	70					1	1	1	0	A	66847750	C	A	66847750	5	1	480	1	0	0	0	0	0	0	1	0	10209	927	32	2	800	2	NAE1	16	66847750	Splice_Site	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	421486	66847750	23507003	189	92641											
RLTPR	146206	broad.mit.edu	37	chr16	67684046	67684046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtctggtctcagacccctCagagcaggtcaatgtcccct	7	10	10	14	0	4	2	3	0	2	2	6	2	5	2	4	3	1	1	4	3	1	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:67684046C>T	ENST00000334583.6	+	22	2505	c.2177C>T	c.(2176-2178)tCa>tTa	p.S726L	RLTPR_ENST00000545661.1_Missense_Mutation_p.S690L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	726										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCAGACCCCTCAGAGCAGGTC	0.602													5	11					0	0	0	0	T	67684046	C	T	67684046	3	4	480	1	0	0	0	0	1	0	0	0	13479	838	29	2	2263	2	RLTPR	16	67684046	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	836296	67684046	22670707	190	92642											
CNTNAP4	85445	broad.mit.edu	37	chr16	76482036	76482036	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagagtgatgggattctactCcacagggaagggccaaatgg	12	7	14	8	0	1	2	0	1	1	1	2	4	2	4	2	4	1	0	2	4	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:76482036C>G	ENST00000307431.8	+	6	1048	c.663C>G	c.(661-663)ctC>ctG	p.L221L	CNTNAP4_ENST00000377504.4_Silent_p.L221L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L197L|CNTNAP4_ENST00000476707.1_Silent_p.L225L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	222	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGATTCTACTCCACAGGGAAG	0.378													9	61					0	0	0	0	G	76482036	C	G	76482036	2	3	480	1	0	0	0	0	0	0	0	1	3679	842	30	2		2	CNTNAP4	16	76482036	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	8797990	76482036	13872717	191	92643											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486617	76486617	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgagtgatggaaaactTaagtcgaatctctaccagcc	12	12	8	9	1	2	2	0	2	2	0	4	4	2	3	2	1	3	0	2	1	5	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:76486617T>A	ENST00000307431.8	+	9	1666	c.1281T>A	c.(1279-1281)ctT>ctA	p.L427L	CNTNAP4_ENST00000377504.4_Silent_p.L379L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L355L|CNTNAP4_ENST00000476707.1_Silent_p.L431L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	428	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGAAAACTTAAGTCGAATC	0.418													5	53					0	0	0	0	A	76486617	T	A	76486617	2	1	480	1	0	0	0	0	0	0	0	1	3679	1741	61	5		5	CNTNAP4	16	76486617	Silent	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	4581	76486617	13868136	192	92644											
CDH15	1013	broad.mit.edu	37	chr16	89261450	89261450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgcttcgcccggctggcaGacatgtatgggcacccgtgc	5	7	13	16	4	0	1	0	0	0	1	1	1	0	1	3	3	1	5	3	3	1	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:89261450G>A	ENST00000289746.2	+	14	2397	c.2332G>A	c.(2332-2334)Gac>Aac	p.D778N		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	778					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			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)		CCGGCTGGCAGACATGTATGG	0.667													7	36					0	0	0	0	A	89261450	G	A	89261450	3	1	480	1	0	0	0	0	1	0	0	0	3129	942	33	2	2386	2	CDH15	16	89261450	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	12774833	89261450	1093303	193	92645											
EIF5A	1984	broad.mit.edu	37	chr17	7214792	7214792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagtacgactgtggagaaGagatcctggtatggtgcctc	11	9	14	7	1	0	3	0	0	0	3	2	6	1	3	2	3	2	2	2	3	4	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:7214792G>C	ENST00000336458.8	+	4	795	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	EIF5A_ENST00000576930.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000419711.2_Missense_Mutation_p.E132Q|EIF5A_ENST00000573542.1_Missense_Mutation_p.E132Q|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000571955.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000416016.2_Missense_Mutation_p.E132Q|EIF5A_ENST00000336452.7_Missense_Mutation_p.E162Q|EIF5A_ENST00000572815.1_Missense_Mutation_p.E132Q	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	132					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CTGTGGAGAAGAGATCCTGGT	0.542													4	105					0	0	0	0	C	7214792	G	C	7214792	3	2	480	1	0	0	0	0	1	0	0	0	5079	943	33	2	498	2	EIF5A	17	7214792	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		7214792	73980418	194	92646											
TP53	7157	broad.mit.edu	37	chr17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaatcaacccacagctGcacagggcaggtcttggcca	10	7	12	12	0	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	2	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:7578500G>A	ENST00000420246.2	-	5	562	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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)		ACCCACAGCTGCACAGGGCAG	0.597		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)			14	47					0	0	0	0	A	7578500	G	A	7578500	4	1	480	1	0	0	0	0	0	1	0	0	16476	1328	46	4	868	4	TP53	17	7578500	Nonsense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	363708	7578500	73616710	195	92647											
ULK2	9706	broad.mit.edu	37	chr17	19683938	19683938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcgttcgttcagattcttGacaactgaaaaaaaattgag	15	13	7	6	2	2	4	1	3	1	1	4	4	2	4	0	0	1	2	0	0	6	6			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:19683938G>A	ENST00000395544.4	-	25	3262	c.2763C>T	c.(2761-2763)gtC>gtT	p.V921V	ULK2_ENST00000361658.2_Silent_p.V921V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	921					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCAGATTCTTGACAACTGAAA	0.338													5	47					0	0	0	0	A	19683938	G	A	19683938	2	1	480	1	0	0	0	0	0	0	0	1	17072	1277	45	2		2	ULK2	17	19683938	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	12105438	19683938	61511272	196	92648											
LRRC37B	114659	broad.mit.edu	37	chr17	30361940	30361940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttcagaattctcaatcGcaatcctctgactactgtcg	10	15	5	11	2	3	2	2	1	2	1	7	2	4	2	1	0	1	1	1	0	4	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:30361940G>A	ENST00000327564.7	+	6	2130	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	LRRC37B_ENST00000394713.3_Missense_Mutation_p.R612H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R581H|LRRC37B_ENST00000341671.7_Missense_Mutation_p.R663H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.R624H			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	663						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTCTCAATCGCAATCCTCTG	0.323													4	84					0	0	0	0	A	30361940	G	A	30361940	3	1	480	1	0	0	0	0	1	0	0	0	9058	1087	38	1	2010	1	LRRC37B	17	30361940	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	10678002	30361940	50833270	197	92649											
PLCD3	113026	broad.mit.edu	37	chr17	43195405	43195405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaccacgtcccggaagaGaatcttggaggtgagggtat	10	9	15	7	2	1	2	0	1	1	1	2	6	2	5	2	5	0	1	2	5	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:43195405G>C	ENST00000322765.5	-	7	1329	c.1216C>G	c.(1216-1218)Ctc>Gtc	p.L406V	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	406	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	TCCCGGAAGAGAATCTTGGAG	0.662													5	17					0	0	0	0	C	43195405	G	C	43195405	3	2	480	1	0	0	0	0	1	0	0	0	12104	942	33	2	1188	2	PLCD3	17	43195405	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	12833465	43195405	37999805	198	92650											
EPN3	55040	broad.mit.edu	37	chr17	48613940	48613940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacctccgcactccggcGccaggtgaagaacatcgtgc	9	5	12	15	5	0	2	0	1	0	1	3	4	2	2	4	2	2	1	4	2	2	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:48613940G>T	ENST00000268933.3	+	2	602	c.23G>T	c.(22-24)cGc>cTc	p.R8L	EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000537145.1_Silent_p.A90A	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	8						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GCACTCCGGCGCCAGGTGAAG	0.657													4	69					0.000602214	0.000633556	1	0	T	48613940	G	T	48613940	3	4	480	1	0	0	0	0	1	0	0	0	5225	1087	38	3	25	3	EPN3	17	48613940	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	5418535	48613940	32581270	199	92651											
ICT1	3396	broad.mit.edu	37	chr17	73016661	73016661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagttccggaatctggcaGattgcctgcagaaaattcga	12	10	10	9	2	2	2	1	0	1	2	4	4	3	3	2	2	2	3	2	2	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:73016661G>A	ENST00000301585.5	+	5	458	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	149					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAATCTGGCAGATTGCCTGCA	0.453													6	64					0	0	0	0	A	73016661	G	A	73016661	3	1	480	1	0	0	0	0	1	0	0	0	7541	942	33	2	463	2	ICT1	17	73016661	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	24402721	73016661	8178549	200	92652											
LPIN2	9663	broad.mit.edu	37	chr18	2921635	2921635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacttctctggtttcttttCtatcacttctctaagaaaaa	11	17	4	9	0	5	1	1	0	4	1	7	2	5	1	0	1	1	1	0	1	5	7			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr18:2921635C>T	ENST00000261596.4	-	18	2576	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	780	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			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)		GGTTTCTTTTCTATCACTTCT	0.398													12	48					0	0	0	0	T	2921635	C	T	2921635	3	4	480	1	0	0	0	0	1	0	0	0	8983	922	32	2	364	2	LPIN2	18	2921635	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08		2921635	75155613	201	92653											
LAMA1	284217	broad.mit.edu	37	chr18	6985295	6985295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctcagctctgtagacCaggtcgactgcgttcctttg	5	13	11	12	2	2	1	1	0	1	1	5	2	4	1	3	2	2	3	3	2	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr18:6985295C>T	ENST00000389658.3	-	39	5694	c.5601G>A	c.(5599-5601)ctG>ctA	p.L1867L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1867	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTGTAGACCAGGTCGACTG	0.502													25	199					0	0	0	0	T	6985295	C	T	6985295	2	4	480	1	0	0	0	0	0	0	0	1	8658	581	21	4		4	LAMA1	18	6985295	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	4063660	6985295	71091953	202	92654											
LAMA3	3909	broad.mit.edu	37	chr18	21422676	21422676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcagagcctgaagtggccGcaactgtgaaggttccagaa	11	8	12	10	1	1	4	1	2	1	2	3	4	2	4	3	2	2	2	3	2	4	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr18:21422676G>A	ENST00000313654.9	+	29	3806	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1189T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1189	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAAGTGGCCGCAACTGTGAA	0.547													15	94					0	0	0	0	A	21422676	G	A	21422676	3	1	480	1	0	0	0	0	1	0	0	0	8660	1087	38	1	3679	1	LAMA3	18	21422676	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	14437381	21422676	56654572	203	92655											
ASXL3	80816	broad.mit.edu	37	chr18	31318539	31318539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcatgtgggacttctGgccttccagtttctgcacag	5	15	10	11	0	4	0	1	0	3	0	5	1	5	1	2	2	1	3	2	2	0	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr18:31318539G>T	ENST00000269197.5	+	11	1171	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGGACTTCTGGCCTTCCAGT	0.498													4	34					0.00024832	0.00026419	1	0	T	31318539	G	T	31318539	3	4	480	1	0	0	0	0	1	0	0	0	1072	1348	47	4	1213	4	ASXL3	18	31318539	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	9895863	31318539	46758709	204	92656											
DAZAP1	26528	broad.mit.edu	37	chr19	1422393	1422393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgagaagcagaggccccGaggtaagggcagatctagtt	11	5	15	10	3	1	3	0	0	1	3	1	5	1	3	3	3	1	4	3	3	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:1422393G>A	ENST00000336761.6	+	6	666	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	DAZAP1_ENST00000233078.4_Missense_Mutation_p.R154Q|DAZAP1_ENST00000586579.1_3'UTR	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	154	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGGCCCCGAGGTAAGGGC	0.612													11	107					0	0	0	0	A	1422393	G	A	1422393	3	1	480	1	0	0	0	0	1	0	0	0	4277	1058	37	1	483	1	DAZAP1	19	1422393	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		1422393	57706590	205	92657											
NFIC	4782	broad.mit.edu	37	chr19	3452488	3452488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctccgcagggatcgccCggagcccacacccgtcctcc	5	6	10	20	4	1	0	0	0	1	0	5	2	3	2	6	2	1	1	6	2	0	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:3452488C>T	ENST00000589123.1	+	8	1186	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	NFIC_ENST00000586919.1_Missense_Mutation_p.R332W|NFIC_ENST00000590282.1_Missense_Mutation_p.R365W|NFIC_ENST00000346156.5_Missense_Mutation_p.R332W|NFIC_ENST00000443272.2_Missense_Mutation_p.R365W|NFIC_ENST00000341919.3_Missense_Mutation_p.R365W|NFIC_ENST00000395111.3_Missense_Mutation_p.R356W	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	365					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGGGATCGCCCGGAGCCCACA	0.647													23	220					0	0	0	0	T	3452488	C	T	3452488	3	4	480	1	0	0	0	0	1	0	0	0	10442	643	23	1	1130	1	NFIC	19	3452488	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	2030095	3452488	55676495	206	92658											
CLEC4M	10332	broad.mit.edu	37	chr19	7828326	7828326	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactttttccaagagactttCaattccagcagatacatggc	12	12	7	10	0	1	2	1	0	0	2	3	4	3	2	2	1	2	1	2	1	3	5			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:7828326C>T	ENST00000327325.5	+	2	212	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	CLEC4M_ENST00000357361.2_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Q24*|CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000597522.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Q32*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	32					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AAGAGACTTTCAATTCCAGCA	0.522													6	76					0	0	0	0	T	7828326	C	T	7828326	4	4	480	1	0	0	0	0	0	1	0	0	3548	827	29	2	100	2	CLEC4M	19	7828326	Nonsense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	4375838	7828326	51300657	207	92659											
MUC16	94025	broad.mit.edu	37	chr19	9063268	9063268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaactggaggtccccacatCggtcactgttctgtttgaag	9	11	11	10	1	2	2	1	1	1	1	4	3	3	3	2	3	1	2	2	3	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:9063268C>T	ENST00000397910.4	-	3	24381	c.24178G>A	c.(24178-24180)Gat>Aat	p.D8060N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8062	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCCCACATCGGTCACTGTT	0.463													25	91					0	0	0	0	T	9063268	C	T	9063268	3	4	480	1	0	0	0	0	1	0	0	0	10043	884	31	1	19673	1	MUC16	19	9063268	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1234942	9063268	50065715	208	92660											
ZNF878	729747	broad.mit.edu	37	chr19	12155051	12155051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagggtttctctccagtgtGagtcctttcatgatagtgaa	9	15	10	7	0	2	3	1	3	1	0	5	3	4	3	2	1	0	1	2	1	3	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:12155051G>C	ENST00000602107.1	-	5	1305	c.1306C>G	c.(1306-1308)Cac>Gac	p.H436D	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.H389D|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCTCCAGTGTGAGTCCTTTCA	0.428													7	81					0	0	0	0	C	12155051	G	C	12155051	3	2	480	1	0	0	0	0	1	0	0	0	18289	1290	45	2	434	2	ZNF878	19	12155051	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3091783	12155051	46973932	209	92661											
TM6SF2	53345	broad.mit.edu	37	chr19	19377413	19377413	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacataaaacatgtacatCagcatctgcaggggcgggag	14	6	13	8	1	2	0	1	0	1	0	2	2	2	2	0	4	4	3	0	4	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:19377413C>G	ENST00000389363.4	-	9	882	c.810G>C	c.(808-810)ctG>ctC	p.L270L	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	270						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			ACATGTACATCAGCATCTGCA	0.607													5	23					0	0	0	0	G	19377413	C	G	19377413	2	3	480	1	0	0	0	0	0	0	0	1	16067	813	29	2		2	TM6SF2	19	19377413	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	7222362	19377413	39751570	210	92662											
ZNF85	7639	broad.mit.edu	37	chr19	21131726	21131726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgtaatggacttaacCaatgtctcacagctacccag	12	10	9	10	0	1	0	1	0	1	0	2	2	1	1	2	2	3	3	2	2	4	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:21131726C>G	ENST00000601023.1	+	2	875	c.229C>G	c.(229-231)Caa>Gaa	p.Q77E	ZNF85_ENST00000345030.6_Missense_Mutation_p.Q103E|ZNF85_ENST00000328178.8_Missense_Mutation_p.Q136E			Q03923	ZNF85_HUMAN	zinc finger protein 85	136						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TGGACTTAACCAATGTCTCAC	0.328													4	112					0	0	0	0	G	21131726	C	G	21131726	3	3	480	1	0	0	0	0	1	0	0	0	18286	595	21	4	420	4	ZNF85	19	21131726	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	1754313	21131726	37997257	211	92663											
APLP1	333	broad.mit.edu	37	chr19	36370086	36370086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctgcgcaggaagaaGccctacggggctatcagcca	9	6	12	14	2	1	1	1	0	0	1	2	2	2	2	3	3	5	3	3	3	4	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:36370086G>C	ENST00000221891.4	+	16	2016	c.1824G>C	c.(1822-1824)aaG>aaC	p.K608N	APLP1_ENST00000586861.1_Missense_Mutation_p.K601N|APLP1_ENST00000537454.2_Missense_Mutation_p.K568N	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	607					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			GCAGGAAGAAGCCCTACGGGG	0.652													5	79					0	0	0	0	C	36370086	G	C	36370086	3	2	480	1	0	0	0	0	1	0	0	0	780	962	34	4	1886	4	APLP1	19	36370086	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	15238360	36370086	22758897	212	92664											
CAPN12	147968	broad.mit.edu	37	chr19	39221800	39221800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaccgctcgaagtccacaCgcagacggctatcccggtag	10	5	11	15	6	0	1	0	0	0	1	3	3	2	1	3	2	1	4	3	2	4	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:39221800C>T	ENST00000328867.4	-	19	2329	c.2021G>A	c.(2020-2022)cGt>cAt	p.R674H	CAPN12_ENST00000601953.1_Missense_Mutation_p.R525H|ACTN4_ENST00000252699.2_3'UTR	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	674	Domain IV.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAAGTCCACACGCAGACGGCT	0.647													3	38					0	0	0	0	T	39221800	C	T	39221800	3	4	480	1	0	0	0	0	1	0	0	0	2650	536	19	1	150	1	CAPN12	19	39221800	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	2851714	39221800	19907183	213	92665											
CEACAM5	1048	broad.mit.edu	37	chr19	42221545	42221560	+	Frame_Shift_Del	DEL	CCCTCACTCTACTCAG	CCCTCACTCTACTCAG	-																															gctgtccaatgacaacaggaCcctcactctactcagtgtca																								rs145041033		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:42221545_42221560delCCCTCACTCTACTCAG	ENST00000221992.6	+	5	1244_1259	c.1130_1145delCCCTCACTCTACTCAG	c.(1129-1146)atfs	p.TLTLLS377fs	CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.TLTLLS376fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.TLTLLS377fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	377	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				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)		GACAACAGGACCCTCACTCTACTCAGTGTCACAAGG	0.491													9	265	---	---	---	---					-	42221560	CCCTCACTCTACTCAG	-	42221545	7	5	480	1	0	1	0	1	0	0	0	0	3224	507	18	0	1148	0	CEACAM5	19	42221545	Frame_Shift_Del	DEL	CCCTCACTCTACTCAG	TCGA-QK-A6VC-01A-23D-A34J-08	2999745	42221545	16907438	214	92666											
MEGF8	1954	broad.mit.edu	37	chr19	42866710	42866710	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcgagcagtgcacgcggGagggcaagtgcatgtggacg	9	5	18	9	4	0	0	0	0	0	0	0	3	0	2	0	3	4	4	0	3	1	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:42866710G>T	ENST00000334370.4	+	33	6453	c.5818G>T	c.(5818-5820)Gag>Tag	p.E1940*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.E2007*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2007	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGCACGCGGGAGGGCAAGTG	0.632													14	139					2.35188e-11	2.69467e-11	1	0	T	42866710	G	T	42866710	4	4	480	1	0	0	0	0	0	1	0	0	9532	1175	41	2	5948	2	MEGF8	19	42866710	Nonsense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	645165	42866710	16262273	215	92667											
PSG6	5675	broad.mit.edu	37	chr19	43420318	43420318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagttactcctccagtcCcatcgcctcgctttatgatg	7	13	6	15	2	0	1	0	1	0	0	6	1	4	1	5	0	1	2	5	0	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:43420318C>A	ENST00000601833.1	-	2	1456	c.173G>T	c.(172-174)gGg>gTg	p.G58V	PSG6_ENST00000402603.4_Missense_Mutation_p.G129V|PSG6_ENST00000187910.2_Missense_Mutation_p.G129V|PSG6_ENST00000292125.2_Missense_Mutation_p.G129V					pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TCCTCCAGTCCCATCGCCTCG	0.493													26	129					9.86323e-18	1.14397e-17	1	0	A	43420318	C	A	43420318	3	1	480	1	0	0	0	0	1	0	0	0	12738	623	22	4	980	4	PSG6	19	43420318	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	553608	43420318	15708665	216	92668											
CALM3	808	broad.mit.edu	37	chr19	47111501	47111501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaggatggagatggcactAtcaccaccaaggagttgggg	13	6	14	8	0	1	1	1	0	0	1	1	4	1	3	2	6	0	2	2	6	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:47111501A>G	ENST00000291295.9	+	3	281	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	CALM3_ENST00000594523.1_5'UTR|CALM3_ENST00000597743.1_Missense_Mutation_p.I28V|CALM3_ENST00000391918.2_5'UTR|CALM3_ENST00000599839.1_5'UTR|CALM3_ENST00000596362.1_Missense_Mutation_p.I28V|CALM3_ENST00000598871.1_5'UTR|CALM3_ENST00000477244.1_3'UTR	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	28	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	AGATGGCACTATCACCACCAA	0.537													22	73					0	0	0	0	G	47111501	A	G	47111501	3	3	480	1	0	0	0	0	1	0	0	0	2611	449	16	5	92	5	CALM3	19	47111501	Missense_Mutation	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	3691183	47111501	12017482	217	92669											
JOSD2	126119	broad.mit.edu	37	chr19	51009451	51009451	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgtccgcagccagctGcccttctcctccacctcctt	4	11	6	20	1	2	0	0	0	2	0	6	0	5	0	7	0	3	2	7	0	0	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:51009451G>A	ENST00000598418.1	-	5	799	c.546C>T	c.(544-546)ggC>ggT	p.G182G	JOSD2_ENST00000391815.3_Silent_p.G182G|JOSD2_ENST00000595669.1_Silent_p.G140G|JOSD2_ENST00000601423.1_Silent_p.G182G	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	182	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		GCAGCCAGCTGCCCTTCTCCT	0.677													14	23					0	0	0	0	A	51009451	G	A	51009451	2	1	480	1	0	0	0	0	0	0	0	1	8012	1306	46	4		4	JOSD2	19	51009451	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	3897950	51009451	8119532	218	92670											
ZNF347	84671	broad.mit.edu	37	chr19	53645521	53645521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagatgtgactgaaggCttaatccaagctgattttta	12	12	10	7	0	0	4	0	3	0	1	1	4	1	4	1	2	1	3	1	2	4	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:53645521C>G	ENST00000452676.2	-	5	989	c.563G>C	c.(562-564)aGc>aCc	p.S188T	ZNF347_ENST00000601469.2_Missense_Mutation_p.S188T|ZNF347_ENST00000334197.7_Missense_Mutation_p.S187T|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGACTGAAGGCTTAATCCAAG	0.368													15	132					0	0	0	0	G	53645521	C	G	53645521	3	3	480	1	0	0	0	0	1	0	0	0	17956	797	28	4	1963	4	ZNF347	19	53645521	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	2636070	53645521	5483462	219	92671											
ZNF71	58491	broad.mit.edu	37	chr19	57133846	57133846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacggggcgctcgtccctCatcgtgcaccagatcgtgca	6	9	11	15	5	2	1	2	0	0	1	6	1	3	1	2	2	2	3	2	2	0	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:57133846C>T	ENST00000328070.6	+	3	1425	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	397						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCTCGTCCCTCATCGTGCACC	0.637													6	82					0	0	0	0	T	57133846	C	T	57133846	2	4	480	1	0	0	0	0	0	0	0	1	18209	813	29	2		2	ZNF71	19	57133846	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	3488325	57133846	1995137	220	92672											
ZIM3	114026	broad.mit.edu	37	chr19	57648307	57648307	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttccttgttccaacctcaAgatcacatcgggtttggtgg	7	14	9	11	1	2	1	2	0	0	1	5	1	4	1	3	3	1	2	3	3	2	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:57648307A>G	ENST00000269834.1	-	4	560	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAACCTCAAGATCACATCG	0.517													9	75					0	0	0	0	G	57648307	A	G	57648307	2	3	480	1	0	0	0	0	0	0	0	1	17780	69	3	5		5	ZIM3	19	57648307	Silent	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	514461	57648307	1480676	221	92673											
IDH3B	3420	broad.mit.edu	37	chr20	2639112	2639112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtggggcaaggcagcaatGacagcctcagtgaagtcatg	11	6	16	8	0	2	2	2	2	0	0	2	2	2	2	1	4	2	3	1	4	3	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr20:2639112G>A	ENST00000380851.5	-	12	1158	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	IDH3B_ENST00000380843.4_3'UTR|IDH3B_ENST00000488299.1_5'UTR	NM_001258384.1|NM_174855.2	NP_001245313.1|NP_777280.1	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	376					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	AGGCAGCAATGACAGCCTCAG	0.493													3	24					0	0	0	0	A	2639112	G	A	2639112	2	1	480	1	0	0	0	0	0	0	0	1	7550	1277	45	2		2	IDH3B	20	2639112	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08		2639112	60386408	222	92674											
ADIG	149685	broad.mit.edu	37	chr20	37214687	37214687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagattcagaggaaaatgActccagtgtgtgcttggatt	12	11	11	7	0	1	3	1	1	0	2	2	5	2	5	1	2	1	1	1	2	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr20:37214687A>T	ENST00000537425.1	+	2	196	c.125A>T	c.(124-126)gAc>gTc	p.D42V		NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	47					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GAGGAAAATGACTCCAGTGTG	0.587													6	15					0	0	0	0	T	37214687	A	T	37214687	3	4	480	1	0	0	0	0	1	0	0	0	316	275	10	5	146	5	ADIG	20	37214687	Missense_Mutation	SNP	A	TCGA-QK-A6VC-01A-23D-A34J-08	34575575	37214687	25810833	223	92675											
BCAS1	8537	broad.mit.edu	37	chr20	52645124	52645124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctcctgctccccctGtctcaggtgggagaagcgtg	4	11	11	15	1	2	1	1	0	2	1	6	2	4	1	4	2	2	1	4	2	1	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr20:52645124G>T	ENST00000395961.3	-	4	696	c.530C>A	c.(529-531)aCa>aAa	p.T177K	BCAS1_ENST00000371440.3_Missense_Mutation_p.T177K|BCAS1_ENST00000411563.1_Missense_Mutation_p.T80K|BCAS1_ENST00000371435.2_Missense_Mutation_p.T177K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	177						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCTCCCCCTGTCTCAGGTGG	0.602													8	148					5.18039e-06	5.66043e-06	1	0	T	52645124	G	T	52645124	3	4	480	1	0	0	0	0	1	0	0	0	1354	1377	48	4	1260	4	BCAS1	20	52645124	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	15430437	52645124	10380396	224	92676											
ZNF831	128611	broad.mit.edu	37	chr20	57767136	57767136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgctccgacagcgcggaGcagccgcatgcgccctgcag	6	4	14	17	7	0	0	0	0	0	0	2	2	1	1	3	1	5	4	3	1	0	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr20:57767136G>A	ENST00000371030.2	+	1	1062	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	354						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAGCGCGGAGCAGCCGCATG	0.756													13	41					0	0	0	0	A	57767136	G	A	57767136	2	1	480	1	0	0	0	0	0	0	0	1	18278	962	34	4		4	ZNF831	20	57767136	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	5122012	57767136	5258384	225	92677											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993826	45993826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccccagtgagccgtgtgtCcagcccctgctgcccagtga	6	7	11	17	1	0	2	0	2	0	0	1	2	1	2	7	0	4	1	7	0	0	0			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr21:45993826C>T	ENST00000400374.3	+	1	221	c.191C>T	c.(190-192)tCc>tTc	p.S64F	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	64	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						AGCCGTGTGTCCAGCCCCTGC	0.716													13	43					0	0	0	0	T	45993826	C	T	45993826	3	4	480	1	0	0	0	0	1	0	0	0	8563	855	30	2	193	2	KRTAP10-4	21	45993826	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08		45993826	2136069	226	92678											
COL6A1	1291	broad.mit.edu	37	chr21	47423881	47423881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctaccaggccctgctccGcggtgtcttccaccagacag	7	7	10	17	2	1	1	0	0	1	1	3	1	3	1	5	2	3	2	5	2	1	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr21:47423881G>A	ENST00000361866.3	+	35	3155	c.3041G>A	c.(3040-3042)cGc>cAc	p.R1014H	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	1014	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCCTGCTCCGCGGTGTCTTC	0.677													6	86					0	0	0	0	A	47423881	G	A	47423881	3	1	480	1	0	0	0	0	1	0	0	0	3729	1087	38	1	3179	1	COL6A1	21	47423881	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1430055	47423881	706014	227	92679											
RIMBP3	85376	broad.mit.edu	37	chr22	20460094	20460094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaggggcagcctgcaCgccgcagctgcttgttctcc	4	9	13	15	2	1	0	0	0	1	0	2	0	1	0	4	3	4	7	4	3	1	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:20460094C>G	ENST00000426804.1	-	1	1692	c.1208G>C	c.(1207-1209)cGt>cCt	p.R403P		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCAGCCTGCACGCCGCAGCTG	0.667													5	47					0	0	0	0	G	20460094	C	G	20460094	3	3	480	1	0	0	0	0	1	0	0	0	13447	536	19	3	3715	3	RIMBP3	22	20460094	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08		20460094	30844472	228	92680											
MYO18B	84700	broad.mit.edu	37	chr22	26294277	26294277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctattactcttacagcttGgggagttgcaaagtgcttat	9	16	9	7	0	2	0	0	0	2	0	2	1	2	1	0	2	5	4	0	2	5	7			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:26294277G>T	ENST00000335473.7	+	29	4922	c.4672G>T	c.(4672-4674)Ggg>Tgg	p.G1558W	CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.G1559W|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.G1558W|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1558	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTTACAGCTTGGGGAGTTGCA	0.468													5	63					0.217242	0.218013	1	0	T	26294277	G	T	26294277	3	4	480	1	0	0	0	0	1	0	0	0	10136	1348	47	4	4782	4	MYO18B	22	26294277	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	5834183	26294277	25010289	229	92681											
RFPL3	10738	broad.mit.edu	37	chr22	32754310	32754310	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgttgctgttccatggtCtctcagaggaacaaaatcag	10	12	10	9	0	3	1	2	0	1	1	5	2	4	2	1	2	3	4	1	2	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:32754310C>G	ENST00000249007.4	+	1	457	c.252C>G	c.(250-252)gtC>gtG	p.V84V	RFPL3_ENST00000382088.3_Silent_p.V55V|RFPL3_ENST00000397468.1_Silent_p.V55V	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	84							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GTTCCATGGTCTCTCAGAGGA	0.532													12	100					0	0	0	0	G	32754310	C	G	32754310	2	3	480	1	0	0	0	0	0	0	0	1	13337	900	32	2		2	RFPL3	22	32754310	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	6460033	32754310	18550256	230	92682											
LMF2	91289	broad.mit.edu	37	chr22	50943396	50943396	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgtgggtcccgggctcCacgtaggagtacggcacctg	5	6	15	15	5	0	0	0	0	0	0	2	1	2	1	4	4	1	4	4	4	2	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:50943396C>A	ENST00000216080.5	-	10	1365	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	LMF2_ENST00000474879.2_Silent_p.V424V|LMF2_ENST00000380796.3_Intron			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	424						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCGGGCTCCACGTAGGAGT	0.692													4	11					0.00024832	0.00026419	1	0	A	50943396	C	A	50943396	2	1	480	1	0	0	0	0	0	0	0	1	8901	581	21	4		4	LMF2	22	50943396	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	18189086	50943396	361170	231	92683											
YY2	404281	broad.mit.edu	37	chrX	21874755	21874755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggatggcaattggatctaCggtggccacaaccatccgcc	9	8	12	12	2	1	0	0	0	1	0	2	2	2	2	4	5	2	1	4	5	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:21874755C>T	ENST00000429584.2	+	1	651	c.153C>T	c.(151-153)taC>taT	p.Y51Y	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	51	Mediates transcriptional activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATTGGATCTACGGTGGCCACA	0.537													4	121					0	0	0	0	T	21874755	C	T	21874755	2	4	480	1	0	0	0	0	0	0	0	1	17605	547	19	1		1	YY2	23	21874755	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08		21874755	133395805	232	92684											
POLA1	5422	broad.mit.edu	37	chrX	24844702	24844702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacggaattgatgctgtcctCattgcaacgtggttgggtaa	9	12	13	7	2	1	1	1	1	0	0	2	3	2	2	1	3	3	4	1	3	3	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:24844702C>T	ENST00000379068.3	+	32	3763	c.3720C>T	c.(3718-3720)ctC>ctT	p.L1240L	POLA1_ENST00000379059.3_Silent_p.L1234L			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1234					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGCTGTCCTCATTGCAACGT	0.493													3	30					0	0	0	0	T	24844702	C	T	24844702	2	4	480	1	0	0	0	0	0	0	0	1	12259	813	29	2		2	POLA1	23	24844702	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	2969947	24844702	130425858	233	92685											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29414440	29414440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatgacactggactctGctataattccaagatgaagt	15	11	8	7	0	1	4	0	3	1	1	2	5	2	5	1	1	1	1	1	1	6	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:29414440G>A	ENST00000378993.1	+	4	1101	c.428G>A	c.(427-429)tGc>tAc	p.C143Y	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.C143Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	143	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACTGGACTCTGCTATAATTCC	0.388													7	101					0	0	0	0	A	29414440	G	A	29414440	3	1	480	1	0	0	0	0	1	0	0	0	7714	1319	46	4	438	4	IL1RAPL1	23	29414440	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	4569738	29414440	125856120	234	92686											
CYBB	1536	broad.mit.edu	37	chrX	37660572	37660572	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggttggtgcggttttggCgatctcaacagaaggtggtc	8	11	16	6	2	1	2	1	0	1	2	3	3	1	2	0	6	2	2	0	6	2	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:37660572C>T	ENST00000378588.4	+	8	935	c.868C>T	c.(868-870)Cga>Tga	p.R290*	CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R258*|CYBB_ENST00000536160.1_Nonsense_Mutation_p.R23*|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	290	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCGGTTTTGGCGATCTCAACA	0.413													6	259					0	0	0	0	T	37660572	C	T	37660572	4	4	480	1	0	0	0	0	0	1	0	0	4165	760	27	1	898	1	CYBB	23	37660572	Nonsense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	8246132	37660572	117609988	235	92687											
MTMR8	55613	broad.mit.edu	37	chrX	63576113	63576113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcacacaaggtcagaatCtaaaacaaagtgggccaccc	16	5	9	11	0	2	1	1	0	1	1	2	1	2	1	2	3	1	1	2	3	5	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:63576113C>T	ENST00000374852.3	-	3	320	c.253G>A	c.(253-255)Gat>Aat	p.D85N	MTMR8_ENST00000453546.1_Missense_Mutation_p.D85N	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	85						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGGTCAGAATCTAAAACAAAG	0.428													4	39					0	0	0	0	T	63576113	C	T	63576113	3	4	480	1	0	0	0	0	1	0	0	0	10019	913	32	2	1909	2	MTMR8	23	63576113	Missense_Mutation	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	25915541	63576113	91694447	236	92688											
OGT	8473	broad.mit.edu	37	chrX	70775082	70775082	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctaagtttgagtccaaaTcacgcagtggtgcacggcaa	11	8	11	11	2	1	1	1	1	0	0	2	1	2	1	2	2	1	4	2	2	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:70775082T>G	ENST00000373719.3	+	7	988	c.771T>G	c.(769-771)aaT>aaG	p.N257K	OGT_ENST00000373701.3_Missense_Mutation_p.N247K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	257					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGAGTCCAAATCACGCAGTGG	0.483													14	58					0	0	0	0	G	70775082	T	G	70775082	3	3	480	1	0	0	0	0	1	0	0	0	10918	1432	50	5	797	5	OGT	23	70775082	Missense_Mutation	SNP	T	TCGA-QK-A6VC-01A-23D-A34J-08	7198969	70775082	84495478	237	92689											
HDAC8	55869	broad.mit.edu	37	chrX	71792516	71792516	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacccgtttggggatcttGgccagggagtcacacatact	8	11	11	11	1	2	0	1	0	1	0	2	2	2	2	2	4	2	1	2	4	2	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:71792516G>T	ENST00000439122.2	-	1	382	c.96C>A	c.(94-96)gcC>gcA	p.A32A	HDAC8_ENST00000373589.4_Silent_p.A32A|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373554.1_Silent_p.A32A|HDAC8_ENST00000373560.2_Silent_p.A32A|HDAC8_ENST00000373561.4_Silent_p.A32A|HDAC8_ENST00000373559.4_Silent_p.A32A|HDAC8_ENST00000373583.1_Silent_p.A32A|HDAC8_ENST00000373571.1_Silent_p.A32A|HDAC8_ENST00000373556.3_Silent_p.A32A|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373573.3_Silent_p.A32A	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	32	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TGGGGATCTTGGCCAGGGAGT	0.592													10	82					5.50884e-06	5.99616e-06	1	0	T	71792516	G	T	71792516	2	4	480	1	0	0	0	0	0	0	0	1	7063	1335	47	4		4	HDAC8	23	71792516	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	1017434	71792516	83478044	238	92690											
ATRX	546	broad.mit.edu	37	chrX	76872081	76872081	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaggtgtattgtttacCtgttaagtgatctaagtagt	12	15	9	5	0	1	1	0	1	1	0	1	1	1	1	1	1	2	4	1	1	7	7			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:76872081C>A	ENST00000373344.5	-	22	5780	c.5566_splice	c.e22+1	p.G1856_splice	ATRX_ENST00000395603.3_Splice_Site_p.G1818_splice|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1856					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATTGTTTACCTGTTAAGTGA	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						19	231					5.26018e-13	6.05134e-13	1	0	A	76872081	C	A	76872081	5	1	480	1	0	0	0	0	0	0	1	0	1212	695	24	4	1968	4	ATRX	23	76872081	Splice_Site	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	5079565	76872081	78398479	239	92691											
RHOXF1	158800	broad.mit.edu	37	chrX	119249485	119249485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcatgttctcgggctgCggaccctccatggccgcctg	3	9	14	15	3	1	0	0	0	1	0	3	1	2	1	4	4	2	4	4	4	0	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:119249485C>T	ENST00000217999.2	-	1	362	c.288G>A	c.(286-288)ccG>ccA	p.P96P	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	96					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TCTCGGGCTGCGGACCCTCCA	0.662													4	96					0	0	0	0	T	119249485	C	T	119249485	2	4	480	1	0	0	0	0	0	0	0	1	13430	755	27	1		1	RHOXF1	23	119249485	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	42377404	119249485	36021075	240	92692											
GPR119	139760	broad.mit.edu	37	chrX	129518519	129518519	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaagaggaggaatgaggtGagcaccttcttcactcctag	13	8	12	8	0	2	4	1	2	1	2	3	6	3	6	2	3	1	1	2	3	3	3			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:129518519G>C	ENST00000276218.2	-	1	992	c.903C>G	c.(901-903)ctC>ctG	p.L301L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	301						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGAATGAGGTGAGCACCTTCT	0.552													7	85					0	0	0	0	C	129518519	G	C	129518519	2	2	480	1	0	0	0	0	0	0	0	1	6683	1277	45	2		2	GPR119	23	129518519	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	10269034	129518519	25752041	241	92693											
ATP11C	286410	broad.mit.edu	37	chrX	138820219	138820219	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatacattctctgttgcttGagaaaaggcctgcagtggaa	13	11	10	7	0	1	1	0	1	1	1	2	3	1	2	1	2	3	3	1	2	5	4			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:138820219G>C	ENST00000370557.1	-	28	4162	c.3135C>G	c.(3133-3135)ctC>ctG	p.L1045L	ATP11C_ENST00000370543.1_Silent_p.L1051L|ATP11C_ENST00000361648.2_Silent_p.L1051L|ATP11C_ENST00000359686.2_Silent_p.L1051L|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Silent_p.L1051L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1051					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TCTGTTGCTTGAGAAAAGGCC	0.333													4	77					0	0	0	0	C	138820219	G	C	138820219	2	2	480	1	0	0	0	0	0	0	0	1	1125	1277	45	2		2	ATP11C	23	138820219	Silent	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	9301700	138820219	16450341	242	92694											
ATP2B3	492	broad.mit.edu	37	chrX	152823653	152823653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcatcgtcaaggcagtCatgtggggccgtaacgtcta	10	8	12	11	3	3	0	2	0	1	0	4	0	3	0	2	3	2	3	2	3	3	2			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:152823653C>T	ENST00000370186.1	+	15	2801	c.2475C>T	c.(2473-2475)gtC>gtT	p.V825V	ATP2B3_ENST00000393842.1_Silent_p.V825V|ATP2B3_ENST00000370181.2_Silent_p.V825V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Silent_p.V839V|ATP2B3_ENST00000349466.2_Silent_p.V839V|ATP2B3_ENST00000263519.4_Silent_p.V839V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	839					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGCAGTCATGTGGGGCC	0.582													17	130					0	0	0	0	T	152823653	C	T	152823653	2	4	480	1	0	0	0	0	0	0	0	1	1145	813	29	2		2	ATP2B3	23	152823653	Silent	SNP	C	TCGA-QK-A6VC-01A-23D-A34J-08	14003434	152823653	2446907	243	92695											
FAM50A	9130	broad.mit.edu	37	chrX	153674848	153674848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcaccctggaggaggaaGaagagggaggcgaggaggaa	13	3	18	7	1	1	2	1	0	0	2	1	9	1	8	2	7	0	0	2	7	3	1			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:153674848G>C	ENST00000393600.3	+	4	492	c.382G>C	c.(382-384)Gaa>Caa	p.E128Q		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	128					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ggaggaggaagaagagggagg	0.607													3	30					0	0	0	0	C	153674848	G	C	153674848	3	2	480	1	0	0	0	0	1	0	0	0	5624	943	33	2	396	2	FAM50A	23	153674848	Missense_Mutation	SNP	G	TCGA-QK-A6VC-01A-23D-A34J-08	851195	153674848	1595712	244	92696											
GLTPD1	80772	broad.mit.edu	37	chr1	1262674	1262674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctccaaggacgtggtctCcaagctgcggatcatggagc	9	8	12	12	2	3	0	1	0	2	0	5	3	3	3	2	4	3	1	2	4	2	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:1262674C>A	ENST00000343938.4	+	3	587	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	59						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACGTGGTCTCCAAGCTGCGG	0.662													15	52					1.5739e-10	1.72345e-10	1	0	A	1262674	C	A	1262674	3	1	481	1	0	0	0	0	1	0	0	0	6523	855	30	2	182	2	GLTPD1	1	1262674	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08		1262674	247987947	1	92697											
CELA3A	10136	broad.mit.edu	37	chr1	22332274	22332274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatccactctggaaccgctCgtgtgtggcctgtgggtgag	5	10	15	11	2	1	1	0	1	1	0	3	2	2	2	3	3	1	2	3	3	1	0	rs147890009		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:22332274C>T	ENST00000290122.3	+	4	366	c.347C>T	c.(346-348)tCg>tTg	p.S116L	CELA3A_ENST00000374663.1_Missense_Mutation_p.S116L	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGAACCGCTCGTGTGTGGCC	0.582													20	128					0	0	0	0	T	22332274	C	T	22332274	3	4	481	1	0	0	0	0	1	0	0	0	3242	893	31	1	361	1	CELA3A	1	22332274	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	21069600	22332274	226918347	2	92698											
KLF17	128209	broad.mit.edu	37	chr1	44595051	44595051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaactcagcgcccatcttGaacatgtcttcatcttctgg	9	12	8	12	1	6	2	2	1	4	1	6	3	6	2	1	1	3	0	1	1	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:44595051G>C	ENST00000372299.3	+	2	166	c.108G>C	c.(106-108)ttG>ttC	p.L36F	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	36					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CGCCCATCTTGAACATGTCTT	0.502													47	73					0	0	0	0	C	44595051	G	C	44595051	3	2	481	1	0	0	0	0	1	0	0	0	8397	1281	45	2	114	2	KLF17	1	44595051	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	22262777	44595051	204655570	3	92699											
NRD1	4898	broad.mit.edu	37	chr1	52281999	52281999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgctttttcctaaggaaaGaaagaatgctgcctttgcct	10	14	8	9	0	0	2	0	0	0	2	1	3	1	3	3	1	4	2	3	1	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:52281999G>C	ENST00000354831.7	-	13	1817	c.1628C>G	c.(1627-1629)tCt>tGt	p.S543C	NRD1_ENST00000352171.7_Missense_Mutation_p.S475C|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.S343C|NRD1_ENST00000539524.1_Missense_Mutation_p.S411C	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	474					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CCTAAGGAAAGAAAGAATGCT	0.299													8	64					0	0	0	0	C	52281999	G	C	52281999	3	2	481	1	0	0	0	0	1	0	0	0	10716	942	33	2	2115	2	NRD1	1	52281999	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	7686948	52281999	196968622	4	92700											
DAB1	1600	broad.mit.edu	37	chr1	57480832	57480832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcactcgtgcctgggaCggtggcaaggggggtgaggg	6	6	22	7	2	1	1	1	1	0	0	2	3	1	3	1	8	1	1	1	8	1	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:57480832C>T	ENST00000371236.2	-	12	1431	c.1168G>A	c.(1168-1170)Gtc>Atc	p.V390I	DAB1_ENST00000439789.2_Missense_Mutation_p.V304I|DAB1_ENST00000371231.1_Missense_Mutation_p.V423I|DAB1_ENST00000420954.2_Missense_Mutation_p.V388I|DAB1_ENST00000414851.2_Missense_Mutation_p.V372I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.V390I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	423					cell differentiation|nervous system development					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						GTGCCTGGGACGGTGGCAAGG	0.587													13	57					0	0	0	0	T	57480832	C	T	57480832	3	4	481	1	0	0	0	0	1	0	0	0	4250	536	19	1	511	1	DAB1	1	57480832	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	5198833	57480832	191769789	5	92701											
MSH4	4438	broad.mit.edu	37	chr1	76282183	76282183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagacagccatgatagattCatcatcagcccaaaaccttg	15	8	6	12	0	3	3	3	1	0	2	3	3	3	3	3	0	3	0	3	0	3	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:76282183C>T	ENST00000263187.3	+	6	1045	c.941C>T	c.(940-942)tCa>tTa	p.S314L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	314					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATGATAGATTCATCATCAGCC	0.279								Mismatch excision repair (MMR)					19	46					0	0	0	0	T	76282183	C	T	76282183	3	4	481	1	0	0	0	0	1	0	0	0	9942	838	29	2	963	2	MSH4	1	76282183	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	18801351	76282183	172968438	6	92702											
COL11A1	1301	broad.mit.edu	37	chr1	103428220	103428220	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgtacctttgcaccttCttttcctgcagcaccaggaa	8	14	7	12	0	1	0	0	0	1	0	2	1	2	1	4	1	4	5	4	1	2	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:103428220C>A	ENST00000358392.2	-	39	3366	c.3049G>T	c.(3049-3051)Gaa>Taa	p.E1017*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E889*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1005*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E966*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1005	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.E1005K(1)|p.E1017K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTGCACCTTCTTTTCCTGCA	0.468													15	56					0.000308642	0.000315153	1	0	A	103428220	C	A	103428220	4	1	481	1	0	0	0	0	0	1	0	0	3697	922	32	2	2523	2	COL11A1	1	103428220	Nonsense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	27146037	103428220	145822401	7	92703											
PRKAB2	5565	broad.mit.edu	37	chr1	146639425	146639425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctccttcagaccagcGgataacagtgggccgggcct	7	8	12	14	2	1	1	1	0	0	1	2	2	2	2	5	3	3	0	5	3	1	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:146639425G>A	ENST00000254101.3	-	3	382	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	82					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TCAGACCAGCGGATAACAGTG	0.517													48	201					0	0	0	0	A	146639425	G	A	146639425	3	1	481	1	0	0	0	0	1	0	0	0	12576	1116	39	1	598	1	PRKAB2	1	146639425	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	43211205	146639425	102611196	8	92704											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcctctcccgcgatgcgctcGaagatgtcgttgacgaagga	8	8	13	12	6	1	2	0	1	1	1	4	6	1	3	2	1	1	2	2	1	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622													27	183					0	0	0	0	C	149857978	G	C	149857978	3	2	481	1	0	0	0	0	1	0	0	0	7229	1049	37	3	171	3	HIST2H2BE	1	149857978	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	3218553	149857978	99392643	9	92705											
FCRL1	115350	broad.mit.edu	37	chr1	157767980	157767980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atataggctgtagctgccctGgggtaggtgagttgaggtag	8	11	17	5	0	0	2	0	2	0	0	0	2	0	2	1	5	2	6	1	5	5	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:157767980G>A	ENST00000358292.3	-	7	1019	c.968C>T	c.(967-969)cCa>cTa	p.P323L	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.P362L|FCRL1_ENST00000491942.1_Missense_Mutation_p.P362L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	362						integral to membrane|plasma membrane	receptor activity	p.P323R(2)|p.P362R(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGCTGCCCTGGGGTAGGTGA	0.498													6	27					0	0	0	0	A	157767980	G	A	157767980	3	1	481	1	0	0	0	0	1	0	0	0	5839	1348	47	4	286	4	FCRL1	1	157767980	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	7910002	157767980	91482641	10	92706											
ARL8A	127829	broad.mit.edu	37	chr1	202104633	202104633	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgctcccggaaggtctcGcttgttacccaggactaaga	10	9	10	12	2	1	1	0	0	1	1	3	3	2	3	2	3	2	3	2	3	4	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:202104633G>A	ENST00000272217.2	-	5	562	c.394C>T	c.(394-396)Cga>Tga	p.R132*	ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	132					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GGAAGGTCTCGCTTGTTACCC	0.547											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	166					0	0	0	0	A	202104633	G	A	202104633	4	1	481	1	0	0	0	0	0	1	0	0	950	1095	38	1	178	1	ARL8A	1	202104633	Nonsense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	44336653	202104633	47145988	11	92707											
ATP2B4	493	broad.mit.edu	37	chr1	203668809	203668809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatccagctccctgtggctGagattgtggttggtgatatt	6	15	12	8	0	1	2	1	2	0	1	3	3	3	2	2	3	1	3	2	3	1	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:203668809G>A	ENST00000357681.5	+	4	1736	c.613G>A	c.(613-615)Gag>Aag	p.E205K	ATP2B4_ENST00000367218.3_Missense_Mutation_p.E205K|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E205K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E205K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E205K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	205					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCTGTGGCTGAGATTGTGGT	0.512													87	159					0	0	0	0	A	203668809	G	A	203668809	3	1	481	1	0	0	0	0	1	0	0	0	1146	1291	45	2	623	2	ATP2B4	1	203668809	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1564176	203668809	45581812	12	92708											
NFASC	23114	broad.mit.edu	37	chr1	204957855	204957855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggaccccgtgtcacgctaCcgctttaccctcagcgccag	7	7	9	18	5	2	0	2	0	0	0	2	1	2	1	5	1	3	2	5	1	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:204957855C>T	ENST00000367172.4	+	25	3337	c.3009C>T	c.(3007-3009)taC>taT	p.Y1003Y	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Silent_p.Y988Y|NFASC_ENST00000404907.1_Silent_p.Y999Y|NFASC_ENST00000338515.6_Silent_p.Y1003Y|NFASC_ENST00000401399.1_Silent_p.Y896Y|NFASC_ENST00000539706.1_Silent_p.Y999Y|NFASC_ENST00000367169.4_Silent_p.Y896Y|NFASC_ENST00000338586.6_Silent_p.Y1003Y|NFASC_ENST00000367170.4_Silent_p.Y1003Y|NFASC_ENST00000339876.6_Silent_p.Y896Y|NFASC_ENST00000404076.1_Silent_p.Y982Y|NFASC_ENST00000513543.1_Silent_p.Y999Y|NFASC_ENST00000360049.4_Silent_p.Y999Y			O94856	NFASC_HUMAN	neurofascin	1003	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGTCACGCTACCGCTTTACCC	0.582													21	76					0	0	0	0	T	204957855	C	T	204957855	2	4	481	1	0	0	0	0	0	0	0	1	10429	518	18	4		4	NFASC	1	204957855	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	1289046	204957855	44292766	13	92709											
TMCC2	9911	broad.mit.edu	37	chr1	205240255	205240255	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccctccgccaggtacgagCggctggaggagcagctcaac	8	5	13	15	3	1	0	1	0	0	0	3	3	3	2	3	4	5	4	3	4	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:205240255C>A	ENST00000358024.3	+	4	2079	c.1690C>A	c.(1690-1692)Cgg>Agg	p.R564R	TMCC2_ENST00000329800.7_Silent_p.R324R|TMCC2_ENST00000330675.7_Silent_p.R339R|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.R486R	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	564						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGGTACGAGCGGCTGGAGGA	0.552													10	24					7.48243e-07	7.94188e-07	1	0	A	205240255	C	A	205240255	2	1	481	1	0	0	0	0	0	0	0	1	16087	759	27	3		3	TMCC2	1	205240255	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	282400	205240255	44010366	14	92710											
NLRP3	114548	broad.mit.edu	37	chr1	247587769	247587769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcagaaagaagctgcttCccgaggcctctctgctcatc	9	10	8	14	1	4	2	3	0	1	2	7	3	5	2	2	1	3	3	2	1	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:247587769C>A	ENST00000366497.2	+	4	1804	c.1024C>A	c.(1024-1026)Ccc>Acc	p.P342T	NLRP3_ENST00000336119.3_Missense_Mutation_p.P342T|NLRP3_ENST00000391827.2_Missense_Mutation_p.P342T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P342T|NLRP3_ENST00000366496.2_Missense_Mutation_p.P342T|NLRP3_ENST00000348069.2_Missense_Mutation_p.P342T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	342	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			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)			GAAGCTGCTTCCCGAGGCCTC	0.587													39	66					4.01765e-15	4.50126e-15	1	0	A	247587769	C	A	247587769	3	1	481	1	0	0	0	0	1	0	0	0	10548	855	30	2	1034	2	NLRP3	1	247587769	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	42347514	247587769	1662852	15	92711											
OR2AK2	391191	broad.mit.edu	37	chr1	248129523	248129523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattttacaccattgtcaCacctctactgaacccattta	12	14	3	12	0	2	1	1	1	1	0	2	1	2	1	3	0	3	1	3	0	5	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:248129523C>T	ENST00000366480.3	+	1	989	c.890C>T	c.(889-891)aCa>aTa	p.T297I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCATTGTCACACCTCTACTG	0.473													25	46					0	0	0	0	T	248129523	C	T	248129523	3	4	481	1	0	0	0	0	1	0	0	0	11057	478	17	4	892	4	OR2AK2	1	248129523	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	541754	248129523	1121098	16	92712											
COLEC11	78989	broad.mit.edu	37	chr2	3691387	3691387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaagcgctacgcggaCgcccagctgtcctgccaggg	8	4	16	13	4	0	1	0	0	0	1	1	4	1	2	3	3	4	2	3	3	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:3691387C>T	ENST00000403096.3	+	6	908	c.417C>T	c.(415-417)gaC>gaT	p.D139D	COLEC11_ENST00000404205.1_Silent_p.D91D|COLEC11_ENST00000402922.1_Silent_p.D115D|COLEC11_ENST00000382062.2_Silent_p.D141D|COLEC11_ENST00000402794.1_Silent_p.D115D|COLEC11_ENST00000418971.2_Silent_p.D179D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000236693.7_Silent_p.D162D|COLEC11_ENST00000349077.4_Silent_p.D165D	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	165						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCTACGCGGACGCCCAGCTGT	0.662													21	56					0	0	0	0	T	3691387	C	T	3691387	2	4	481	1	0	0	0	0	0	0	0	1	3741	535	19	1		1	COLEC11	2	3691387	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08		3691387	239507986	17	92713											
CAPN13	92291	broad.mit.edu	37	chr2	30965219	30965219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggttgaaatggctgctCaggtgcctagaaaatcagag	12	9	13	7	0	2	4	2	2	0	2	2	4	2	4	1	3	2	3	1	3	4	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:30965219C>T	ENST00000295055.8	-	14	1628	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	CAPN13_ENST00000534090.2_Silent_p.L484L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	484					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AATGGCTGCTCAGGTGCCTAG	0.537													3	17					0	0	0	0	T	30965219	C	T	30965219	2	4	481	1	0	0	0	0	0	0	0	1	2651	813	29	2		2	CAPN13	2	30965219	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	27273832	30965219	212234154	18	92714											
BIRC6	57448	broad.mit.edu	37	chr2	32822887	32822887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaattaccactacatgtCtcaggtgaaaaatgctaatg	16	11	7	7	0	1	1	1	1	1	0	2	1	1	1	1	1	3	2	1	1	7	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:32822887C>T	ENST00000421745.2	+	69	13816	c.13682C>T	c.(13681-13683)tCt>tTt	p.S4561F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4561					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)					CACTACATGTCTCAGGTGAAA	0.428													6	28					0	0	0	0	T	32822887	C	T	32822887	3	4	481	1	0	0	0	0	1	0	0	0	1443	913	32	2	13956	2	BIRC6	2	32822887	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	1857668	32822887	210376486	19	92715											
PROKR1	10887	broad.mit.edu	37	chr2	68882334	68882334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtccctggattccagacaGagcagatccgcaagaggctg	10	6	13	12	2	0	4	0	0	0	4	3	5	3	5	3	3	1	3	3	3	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:68882334G>C	ENST00000303786.3	+	3	1228	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	PROKR1_ENST00000394342.2_Missense_Mutation_p.E270Q			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	270						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.E270K(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATTCCAGACAGAGCAGATCCG	0.612													13	69					0	0	0	0	C	68882334	G	C	68882334	3	2	481	1	0	0	0	0	1	0	0	0	12632	943	33	2	814	2	PROKR1	2	68882334	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	36059447	68882334	174317039	20	92716											
REG3G	130120	broad.mit.edu	37	chr2	79253241	79253241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgcctcccatggccctgCccagtgtgtcctggatgctg	3	11	12	15	0	0	0	0	0	0	0	2	1	2	1	5	2	4	2	5	2	0	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:79253241C>G	ENST00000272324.5	+	2	206	c.22C>G	c.(22-24)Ccc>Gcc	p.P8A	REG3G_ENST00000409471.1_Missense_Mutation_p.P8A|REG3G_ENST00000393897.2_Missense_Mutation_p.P8A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	8					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATGGCCCTGCCCAGTGTGTC	0.547													8	49					0	0	0	0	G	79253241	C	G	79253241	3	3	481	1	0	0	0	0	1	0	0	0	13295	739	26	4	24	4	REG3G	2	79253241	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	10370907	79253241	163946132	21	92717											
SPOPL	339745	broad.mit.edu	37	chr2	139316854	139316854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacataatcttgttacagctCgatctccagtttttaacgcc	10	15	5	11	2	2	0	0	0	2	0	4	1	2	0	2	0	4	3	2	0	4	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:139316854C>G	ENST00000280098.4	+	7	1040	c.661C>G	c.(661-663)Cga>Gga	p.R221G		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	221	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TGTTACAGCTCGATCTCCAGT	0.299													11	42					0	0	0	0	G	139316854	C	G	139316854	3	3	481	1	0	0	0	0	1	0	0	0	15175	876	31	3	683	3	SPOPL	2	139316854	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	60063613	139316854	103882519	22	92718											
NEB	4703	broad.mit.edu	37	chr2	152348774	152348774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcaacccttgtgtttctCaaagtcttcatgatatttca	11	15	6	9	0	4	1	3	1	2	0	5	2	4	1	1	0	2	2	1	0	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:152348774C>G	ENST00000427231.2	-	178	25097	c.24895G>C	c.(24895-24897)Gag>Cag	p.E8299Q	NEB_ENST00000509223.2_Missense_Mutation_p.E212Q|NEB_ENST00000397336.2_Missense_Mutation_p.E274Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.E8299Q|NEB_ENST00000172853.10_Missense_Mutation_p.E6443Q|NEB_ENST00000409198.1_Missense_Mutation_p.E6443Q|NEB_ENST00000603639.1_Missense_Mutation_p.E8299Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397345.3_Missense_Mutation_p.E8299Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6443					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTGTTTCTCAAAGTCTTCA	0.398													5	78					0	0	0	0	G	152348774	C	G	152348774	3	3	481	1	0	0	0	0	1	0	0	0	10372	835	29	2	702	2	NEB	2	152348774	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	13031920	152348774	90850599	23	92719											
DHRS9	10170	broad.mit.edu	37	chr2	169938254	169938254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttgataaaaagggatttCatgtaatcgctgcctgtctg	10	15	9	7	1	2	1	1	1	1	0	3	2	2	2	1	1	1	2	1	1	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:169938254C>T	ENST00000327239.4	+	5	1667	c.163C>T	c.(163-165)Cat>Tat	p.H55Y	DHRS9_ENST00000602501.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000436483.2_Missense_Mutation_p.H55Y|DHRS9_ENST00000432060.2_Missense_Mutation_p.H115Y|DHRS9_ENST00000428522.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000357546.2_Missense_Mutation_p.H55Y	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	55					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAAGGGATTTCATGTAATCGC	0.428													5	91					0	0	0	0	T	169938254	C	T	169938254	3	4	481	1	0	0	0	0	1	0	0	0	4535	826	29	2	165	2	DHRS9	2	169938254	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	17589480	169938254	73261119	24	92720											
TTN	7273	broad.mit.edu	37	chr2	179424238	179424238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtaattcttcactggtgctCcaccatcgttttcaggaaca	9	13	8	11	1	3	0	2	0	1	0	5	1	4	1	2	3	2	3	2	3	2	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:179424238C>G	ENST00000589042.1	-	326	86845	c.86621G>C	c.(86620-86622)gGa>gCa	p.G28874A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27233A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26306A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19934A|TTN_ENST00000460472.2_Missense_Mutation_p.G19809A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20001A|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27233	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGGTGCTCCACCATCGTT	0.458													13	107					0	0	0	0	G	179424238	C	G	179424238	3	3	481	1	0	0	0	0	1	0	0	0	16831	855	30	2	21506	2	TTN	2	179424238	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	9485984	179424238	63775135	25	92721											
DNAH7	56171	broad.mit.edu	37	chr2	196877574	196877574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgttctgaaaacttgacAgctctaatgcatcctggcaa	13	12	7	9	0	2	2	0	2	2	0	3	2	3	2	1	1	3	4	1	1	5	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:196877574A>T	ENST00000312428.6	-	10	1026	c.926T>A	c.(925-927)cTg>cAg	p.L309Q	DNAH7_ENST00000410072.1_Missense_Mutation_p.L309Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	309	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAACTTGACAGCTCTAATGC	0.299													4	90					0	0	0	0	T	196877574	A	T	196877574	3	4	481	1	0	0	0	0	1	0	0	0	4642	188	7	5	11372	5	DNAH7	2	196877574	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	17453336	196877574	46321799	26	92722											
CASP8	841	broad.mit.edu	37	chr2	202136345	202136348	+	Splice_Site	DEL	GTAA	GTAA	-																															gcaaactggatgatgacatgGtaagacctggtatcttactg																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:202136345_202136348delGTAA	ENST00000358485.4	+	3	784		c.e3+1		CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGATGACATGGTAAGACCTGGTAT	0.417										HNSCC(4;0.00038)			14	45	---	---	---	---					-	202136348	GTAA	-	202136345	8	5	481	1	0	1	0	1	0	0	1	0	2702	1275	44	0	699	0	CASP8	2	202136345	Splice_Site	DEL	GTAA	TCGA-RS-A6TO-01A-32D-A34J-08	5258771	202136345	41063028	27	92723											
TRAK2	66008	broad.mit.edu	37	chr2	202245628	202245628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attttcagagagatgcactcGaggctcaaagggtaaaggag	14	8	13	6	1	2	2	2	0	0	2	3	5	2	3	0	3	1	3	0	3	3	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:202245628G>C	ENST00000332624.3	-	16	2811	c.2383C>G	c.(2383-2385)Cga>Gga	p.R795G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	795				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGATGCACTCGAGGCTCAAAG	0.532													18	90					0	0	0	0	C	202245628	G	C	202245628	3	2	481	1	0	0	0	0	1	0	0	0	16545	1066	37	3	365	3	TRAK2	2	202245628	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	109283	202245628	40953745	28	92724											
NRP2	8828	broad.mit.edu	37	chr2	206608171	206608171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccgcggaggagacagtatCactgctgtggaagccagagc	10	5	15	11	2	1	2	1	0	0	2	1	5	1	4	2	3	3	2	2	3	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:206608171C>G	ENST00000360409.3	+	9	2327	c.1536C>G	c.(1534-1536)atC>atG	p.I512M	NRP2_ENST00000540841.1_Missense_Mutation_p.I512M|NRP2_ENST00000272849.3_Missense_Mutation_p.I512M|NRP2_ENST00000540178.1_Missense_Mutation_p.I512M|NRP2_ENST00000355117.4_Missense_Mutation_p.I512M|NRP2_ENST00000417189.1_Missense_Mutation_p.I512M|NRP2_ENST00000357785.5_Missense_Mutation_p.I512M|NRP2_ENST00000357118.4_Missense_Mutation_p.I512M|NRP2_ENST00000412873.2_Missense_Mutation_p.I512M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	512	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAGACAGTATCACTGCTGTGG	0.567													3	63					0	0	0	0	G	206608171	C	G	206608171	3	3	481	1	0	0	0	0	1	0	0	0	10732	816	29	2	1570	2	NRP2	2	206608171	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	4362543	206608171	36591202	29	92725											
MAP2	4133	broad.mit.edu	37	chr2	210588337	210588337	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttaggattttaaacaagAagatcgattttagcaaagtt	16	13	9	3	1	0	2	0	0	0	2	1	4	0	3	0	2	2	3	0	2	7	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:210588337A>T	ENST00000199940.6	+	12	1635	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*	MAP2_ENST00000360351.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Intron	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN	microtubule-associated protein 2	1674					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTAAACAAGAAGATCGATTT	0.403													7	51					0	0	0	0	T	210588337	A	T	210588337	4	4	481	1	0	0	0	0	0	1	0	0	9304	247	9	5	5305	5	MAP2	2	210588337	Nonsense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	3980166	210588337	32611036	30	92726											
ECEL1	9427	broad.mit.edu	37	chr2	233349770	233349770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacccaggaggctgagcactCgctccatgaacaccctgtat	10	7	9	15	1	0	2	0	2	0	0	2	3	1	3	3	2	2	4	3	2	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:233349770C>T	ENST00000304546.1	-	4	1097	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	ECEL1_ENST00000409941.1_Missense_Mutation_p.R296Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	296					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	p.R296Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTGAGCACTCGCTCCATGAA	0.642													22	43					0	0	0	0	T	233349770	C	T	233349770	3	4	481	1	0	0	0	0	1	0	0	0	4927	884	31	1	1500	1	ECEL1	2	233349770	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	22761433	233349770	9849603	31	92727											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239258006	239258006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagaccagcccctcccCgggtcaaacggcaagacagc	11	3	11	16	2	1	2	1	0	0	2	2	2	2	2	5	2	4	2	5	2	3	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:239258006C>G	ENST00000373327.4	+	12	1630	c.1408C>G	c.(1408-1410)Cgg>Ggg	p.R470G	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R470G|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R404G	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	470	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGCCCCTCCCCGGGTCAAACG	0.507													11	31					0	0	0	0	G	239258006	C	G	239258006	3	3	481	1	0	0	0	0	1	0	0	0	16535	643	23	3	1454	3	TRAF3IP1	2	239258006	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	5908236	239258006	3941367	32	92728											
CNTN6	27255	broad.mit.edu	37	chr3	1363491	1363491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccttcgaggaagaaacCttgcaaagggtcaactcatt	14	8	9	10	1	2	1	2	0	0	1	3	3	2	2	2	2	4	2	2	2	5	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:1363491C>G	ENST00000446702.2	+	8	1546	c.919C>G	c.(919-921)Ctt>Gtt	p.L307V	CNTN6_ENST00000350110.2_Missense_Mutation_p.L307V|CNTN6_ENST00000539053.1_Missense_Mutation_p.L235V			Q9UQ52	CNTN6_HUMAN	contactin 6	307	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGAAGAAACCTTGCAAAGGG	0.358													18	106					0	0	0	0	G	1363491	C	G	1363491	3	3	481	1	0	0	0	0	1	0	0	0	3675	681	24	4	945	4	CNTN6	3	1363491	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08		1363491	196658939	33	92729											
MTMR14	64419	broad.mit.edu	37	chr3	9695317	9695317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgcaggttgagcgcattGagaagagatgtctggagctg	9	10	16	6	1	1	3	0	2	1	2	1	6	1	4	0	2	3	4	0	2	1	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:9695317G>A	ENST00000296003.4	+	2	294	c.172G>A	c.(172-174)Gag>Aag	p.E58K	MTMR14_ENST00000353332.5_Missense_Mutation_p.E58K|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.E58K	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	58						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGAGCGCATTGAGAAGAGATG	0.512													6	142					0	0	0	0	A	9695317	G	A	9695317	3	1	481	1	0	0	0	0	1	0	0	0	10012	1291	45	2	178	2	MTMR14	3	9695317	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	8331826	9695317	188327113	34	92730											
IL17RC	84818	broad.mit.edu	37	chr3	9974768	9974768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtagacctgtggagccgtCgtgaactgagcgcgcagggg	7	6	17	11	5	0	3	0	2	0	1	1	4	0	4	3	3	3	2	3	3	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:9974768C>T	ENST00000295981.3	+	19	2085	c.1867C>T	c.(1867-1869)Cgt>Tgt	p.R623C	IL17RC_ENST00000416074.2_Missense_Mutation_p.R378C|IL17RC_ENST00000413608.1_Missense_Mutation_p.R539C|IL17RC_ENST00000383812.4_Missense_Mutation_p.R537C|IL17RC_ENST00000403601.3_Missense_Mutation_p.R552C|IL17RC_ENST00000455057.1_Missense_Mutation_p.R520C|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	623	SEFIR.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGGAGCCGTCGTGAACTGAG	0.706											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	0	0	T	9974768	C	T	9974768	3	4	481	1	0	0	0	0	1	0	0	0	7694	884	31	1	1941	1	IL17RC	3	9974768	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	279451	9974768	188047662	35	92731											
RPL32	6161	broad.mit.edu	37	chr3	12881680	12881680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgactggtgccggatgaaCttcttggttctctttttgac	5	17	10	9	1	3	3	0	3	3	0	4	4	3	4	1	3	2	1	1	3	1	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:12881680C>T	ENST00000429711.2	-	2	156	c.57G>A	c.(55-57)aaG>aaA	p.K19K	RPL32_ENST00000273223.6_Silent_p.K19K|RPL32_ENST00000435983.1_Silent_p.K19K|RPL32_ENST00000396953.2_Silent_p.K19K|RPL32_ENST00000396957.1_Silent_p.K19K	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	19					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GCCGGATGAACTTCTTGGTTC	0.502													84	242					0	0	0	0	T	12881680	C	T	12881680	2	4	481	1	0	0	0	0	0	0	0	1	13667	564	20	4		4	RPL32	3	12881680	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	2906912	12881680	185140750	36	92732											
GRIP2	80852	broad.mit.edu	37	chr3	14564568	14564568	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggcgggacttgtgcccatCttcatgggcacctcctggac	5	9	13	14	2	2	0	1	0	1	0	3	2	3	2	3	4	1	1	3	4	0	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:14564568C>G	ENST00000273083.3	-	0	570							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGTGCCCATCTTCATGGGCA	0.617													11	86					0	0	0	0	G	14564568	C	G	14564568	1	3	481	0	1	0	0	0	0	0	0	0	6838	913	32	2		2	GRIP2	3	14564568	RNA	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	1682888	14564568	183457862	37	92733											
SLC4A7	9497	broad.mit.edu	37	chr3	27439195	27439195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaatttttcaggaacatGaagtttaggagatggaactc	14	12	9	6	0	2	2	2	1	0	1	3	5	2	4	0	3	2	1	0	3	5	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:27439195G>T	ENST00000295736.5	-	18	2726	c.2656C>A	c.(2656-2658)Cat>Aat	p.H886N	SLC4A7_ENST00000435667.2_Missense_Mutation_p.H771N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.H767N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.H882N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.H882N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.H762N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.H878N|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.H895N|SLC4A7_ENST00000388777.4_Missense_Mutation_p.H436N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.H767N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	886						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TCAGGAACATGAAGTTTAGGA	0.343													5	27					0.184627	0.184627	1	0	T	27439195	G	T	27439195	3	4	481	1	0	0	0	0	1	0	0	0	14746	1290	45	2	1020	2	SLC4A7	3	27439195	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	12874627	27439195	170583235	38	92734											
POC1A	25886	broad.mit.edu	37	chr3	52183327	52183327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcgtcagaggctgtcacGaaggactggccatcactgca	9	9	12	11	2	3	1	3	0	0	1	4	3	3	2	1	3	1	2	1	3	1	1	rs150866318	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:52183327G>A	ENST00000394970.2	-	4	671	c.354C>T	c.(352-354)ttC>ttT	p.F118F	POC1A_ENST00000474012.1_Silent_p.F80F|POC1A_ENST00000296484.2_Silent_p.F118F	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	118						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGGCTGTCACGAAGGACTGGC	0.537													33	68					0	0	0	0	A	52183327	G	A	52183327	2	1	481	1	0	0	0	0	0	0	0	1	12247	1049	37	1		1	POC1A	3	52183327	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	24744132	52183327	145839103	39	92735											
LRTM1	57408	broad.mit.edu	37	chr3	54952906	54952906	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattcacagatgatgccGtctgttagtccccctttaaa	9	13	9	10	1	2	3	1	2	1	1	3	3	3	3	3	1	1	1	3	1	3	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:54952906G>C	ENST00000273286.5	-	3	780	c.618C>G	c.(616-618)gaC>gaG	p.D206E	CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.D130E|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	206	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGATGATGCCGTCTGTTAGTC	0.473													15	27					0	0	0	0	C	54952906	G	C	54952906	3	2	481	1	0	0	0	0	1	0	0	0	9108	1136	40	3	423	3	LRTM1	3	54952906	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	2769579	54952906	143069524	40	92736											
SLC12A8	84561	broad.mit.edu	37	chr3	124906188	124906188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctgcgctccccgaCgccaatgccagacagcaccg	8	5	11	17	4	0	1	0	0	0	1	1	3	1	1	5	0	5	4	5	0	1	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:124906188C>T	ENST00000423114.2	-	4	369	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	SLC12A8_ENST00000393469.4_Missense_Mutation_p.V95I|SLC12A8_ENST00000469902.1_Missense_Mutation_p.V95I|SLC12A8_ENST00000314584.7_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	95					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CGCTCCCCGACGCCAATGCCA	0.622													21	34					0	0	0	0	T	124906188	C	T	124906188	3	4	481	1	0	0	0	0	1	0	0	0	14477	536	19	1	1905	1	SLC12A8	3	124906188	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	69953282	124906188	73116242	41	92737											
MME	4311	broad.mit.edu	37	chr3	154834708	154834708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaactgaattctaaatatgGgaaaaaagtccttattaatt	18	13	5	5	0	1	1	0	1	1	0	2	2	2	2	1	1	1	0	1	1	10	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:154834708G>C	ENST00000460393.1	+	7	707	c.587G>C	c.(586-588)gGg>gCg	p.G196A	MME_ENST00000493237.1_Missense_Mutation_p.G196A|MME_ENST00000462745.1_Missense_Mutation_p.G196A|MME_ENST00000492661.1_Missense_Mutation_p.G196A|MME_ENST00000360490.2_Missense_Mutation_p.G196A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	196					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCTAAATATGGGAAAAAAGTC	0.299													15	87					0	0	0	0	C	154834708	G	C	154834708	3	2	481	1	0	0	0	0	1	0	0	0	9714	1232	43	4	609	4	MME	3	154834708	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	29928520	154834708	43187722	42	92738											
UGT2A2	574537	broad.mit.edu	37	chr4	70504697	70504697	+	Frame_Shift_Del	DEL	T	T	-																															gcagagaataagatatggtaTttttaatcctttcaccaaag																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:70504697delT	ENST00000457664.2	-	1	661	c.662delA	c.(661-663)atfs	p.N221fs	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Frame_Shift_Del_p.N422fs|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2																					AGATATGGTATTTTTAATCCT	0.398													8	38	---	---	---	---					-	70504697	T	-	70504697	7	5	481	1	0	1	0	1	0	0	0	0	17050	1493	52	0	972	0	UGT2A2	4	70504697	Frame_Shift_Del	DEL	T	TCGA-RS-A6TO-01A-32D-A34J-08		70504697	120649579	43	92739											
CNOT6L	246175	broad.mit.edu	37	chr4	78650133	78650133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacctctgagacaaacatcAtggtctggatgagcttcaca	13	10	8	10	0	4	2	2	2	2	1	4	4	4	3	1	2	3	1	1	2	2	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:78650133A>G	ENST00000504123.1	-	10	1257	c.1127T>C	c.(1126-1128)aTg>aCg	p.M376T	CNOT6L_ENST00000264903.4_Missense_Mutation_p.M376T			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	376					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GACAAACATCATGGTCTGGAT	0.473													19	114					0	0	0	0	G	78650133	A	G	78650133	3	3	481	1	0	0	0	0	1	0	0	0	3653	217	8	5	552	5	CNOT6L	4	78650133	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	8145436	78650133	112504143	44	92740											
BDH2	56898	broad.mit.edu	37	chr4	104016382	104016382	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtacttttccagttcctgAagtttggactcattaatgtc	8	16	9	8	0	1	1	1	1	0	0	4	2	3	2	2	2	1	3	2	2	3	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:104016382A>C	ENST00000296424.4	-	3	249	c.129T>G	c.(127-129)ctT>ctG	p.L43L		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	43					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CCAGTTCCTGAAGTTTGGACT	0.403													21	135					0	0	0	0	C	104016382	A	C	104016382	2	2	481	1	0	0	0	0	0	0	0	1	1395	233	9	5		5	BDH2	4	104016382	Silent	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	25366249	104016382	87137894	45	92741											
COL25A1	84570	broad.mit.edu	37	chr4	109861734	109861734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccatctttccctgtGtccccaggtggccctcttgg	2	11	13	15	1	2	0	0	0	2	0	4	0	4	0	5	5	0	0	5	5	0	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:109861734G>A	ENST00000399132.1	-	10	1163	c.633C>T	c.(631-633)gaC>gaT	p.D211D	COL25A1_ENST00000399127.1_Silent_p.D207D|COL25A1_ENST00000399126.1_Silent_p.D211D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	211	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTCCCTGTGTCCCCAGGTG	0.572													11	96					0	0	0	0	A	109861734	G	A	109861734	2	1	481	1	0	0	0	0	0	0	0	1	3714	1368	48	4		4	COL25A1	4	109861734	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	5845352	109861734	81292542	46	92742											
ANXA10	11199	broad.mit.edu	37	chr4	169060724	169060724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggcataccagagcatgtAtggccgggtaaggccacttt	11	8	13	9	1	0	2	0	0	0	2	0	2	0	2	3	4	2	4	3	4	3	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:169060724A>G	ENST00000359299.3	+	3	374	c.188A>G	c.(187-189)tAt>tGt	p.Y63C		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	63							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CAGAGCATGTATGGCCGGGTA	0.418													9	22					0	0	0	0	G	169060724	A	G	169060724	3	3	481	1	0	0	0	0	1	0	0	0	714	449	16	5	198	5	ANXA10	4	169060724	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	59198990	169060724	22093552	47	92743											
ADCY2	108	broad.mit.edu	37	chr5	7709343	7709343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaacgacggagcccccAgcatctcttcagacctcgcc	9	5	11	16	3	2	2	1	0	1	2	4	5	2	3	4	2	3	1	4	2	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:7709343A>G	ENST00000338316.4	+	10	1510	c.1421A>G	c.(1420-1422)cAg>cGg	p.Q474R	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.Q294R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	474					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			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						CGGAGCCCCCAGCATCTCTTC	0.582													5	68					0	0	0	0	G	7709343	A	G	7709343	3	3	481	1	0	0	0	0	1	0	0	0	294	188	7	5	1459	5	ADCY2	5	7709343	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08		7709343	173205917	48	92744											
CCT5	22948	broad.mit.edu	37	chr5	10250483	10250483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggaccctcgccttcgatGaatatgggcgccctttcctc	5	11	11	14	3	0	1	0	1	0	0	4	3	1	2	4	3	0	0	4	3	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:10250483G>A	ENST00000280326.4	+	1	451	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	CCT5_ENST00000515390.1_Missense_Mutation_p.E11K|CCT5_ENST00000503026.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	11					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CGCCTTCGATGAATATGGGCG	0.587													10	67					0	0	0	0	A	10250483	G	A	10250483	3	1	481	1	0	0	0	0	1	0	0	0	2985	1291	45	2	33	2	CCT5	5	10250483	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	2541140	10250483	170664777	49	92745											
FBXO4	26272	broad.mit.edu	37	chr5	41927222	41927222	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtaagagatccaattctgtgGagatactttttgttgaggga	11	14	12	4	0	1	3	0	1	1	2	2	6	2	4	1	2	1	2	1	2	3	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:41927222G>C	ENST00000296812.2	+	2	353	c.297G>C	c.(295-297)tgG>tgC	p.W99C	FBXO4_ENST00000509134.1_Missense_Mutation_p.W99C|FBXO4_ENST00000281623.3_Missense_Mutation_p.W99C	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	99	F-box.				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			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)				CAATTCTGTGGAGATACTTTT	0.373													26	102					0	0	0	0	C	41927222	G	C	41927222	3	2	481	1	0	0	0	0	1	0	0	0	5793	1183	41	2	303	2	FBXO4	5	41927222	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	31676739	41927222	138988038	50	92746											
POLK	51426	broad.mit.edu	37	chr5	74892236	74892236	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctttgataaaaaacgatCagaaaggaaatggagtcacc	17	10	8	6	1	3	2	2	1	1	1	3	5	3	4	1	2	1	0	1	2	5	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:74892236C>G	ENST00000241436.4	+	13	1890	c.1718C>G	c.(1717-1719)tCa>tGa	p.S573*	POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Nonsense_Mutation_p.S375*|POLK_ENST00000508526.1_Nonsense_Mutation_p.S375*|POLK_ENST00000380481.3_Nonsense_Mutation_p.S483*|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	573					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAAAAACGATCAGAAAGGAAA	0.343								DNA polymerases (catalytic subunits)					4	58					0	0	0	0	G	74892236	C	G	74892236	4	3	481	1	0	0	0	0	0	1	0	0	12276	838	29	2	1764	2	POLK	5	74892236	Nonsense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	32965014	74892236	106023024	51	92747											
POLK	51426	broad.mit.edu	37	chr5	74892409	74892409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctgtttgctttagggctCaagggtgcatcagtctggaa	7	13	13	8	0	3	0	2	0	1	0	4	1	4	1	1	3	2	4	1	3	3	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:74892409C>G	ENST00000241436.4	+	13	2063	c.1891C>G	c.(1891-1893)Caa>Gaa	p.Q631E	POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Missense_Mutation_p.Q433E|POLK_ENST00000508526.1_Missense_Mutation_p.Q433E|POLK_ENST00000380481.3_Missense_Mutation_p.Q541E|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	631					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CTTTAGGGCTCAAGGGTGCAT	0.373								DNA polymerases (catalytic subunits)					6	153					0	0	0	0	G	74892409	C	G	74892409	3	3	481	1	0	0	0	0	1	0	0	0	12276	827	29	2	1937	2	POLK	5	74892409	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	173	74892409	106022851	52	92748											
MSH3	4437	broad.mit.edu	37	chr5	80057395	80057395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccggcttgatgctgtatcGgaagttctccattcagaatc	8	12	10	11	2	2	2	1	1	1	1	5	3	2	3	2	2	1	4	2	2	3	4	rs61753791	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:80057395G>A	ENST00000265081.6	+	13	1874	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	598					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATGCTGTATCGGAAGTTCTCC	0.378								Mismatch excision repair (MMR)					4	108					0	0	0	0	A	80057395	G	A	80057395	2	1	481	1	0	0	0	0	0	0	0	1	9941	1103	39	1		1	MSH3	5	80057395	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	5164986	80057395	100857865	53	92749											
ELL2	22936	broad.mit.edu	37	chr5	95234177	95234177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtttccagagaagtcctaGaggtatatttgtcttgctgg	9	14	12	6	0	1	2	0	0	1	2	3	3	3	2	2	3	1	3	2	3	4	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:95234177G>C	ENST00000237853.4	-	8	1641	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C	ELL2_ENST00000431061.2_Missense_Mutation_p.S181C	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	431					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AGAAGTCCTAGAGGTATATTT	0.448													84	85					0	0	0	0	C	95234177	G	C	95234177	3	2	481	1	0	0	0	0	1	0	0	0	5101	942	33	2	650	2	ELL2	5	95234177	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	15176782	95234177	85681083	54	92750											
FNIP1	96459	broad.mit.edu	37	chr5	131014771	131014771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgaactccttcatgaaacGatagcaaaggtggttctttt	11	13	10	7	1	2	2	1	2	1	0	3	3	3	2	1	3	3	2	1	3	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:131014771G>A	ENST00000307968.7	-	11	1215	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	FNIP1_ENST00000511848.1_Missense_Mutation_p.R434C|FNIP1_ENST00000307954.8_Missense_Mutation_p.R389C|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.R434C	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1									p.R434C(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTCATGAAACGATAGCAAAGG	0.348													16	54					0	0	0	0	A	131014771	G	A	131014771	3	1	481	1	0	0	0	0	1	0	0	0	6020	1058	37	1	2228	1	FNIP1	5	131014771	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	35780594	131014771	49900489	55	92751											
TNIP1	10318	broad.mit.edu	37	chr5	150422172	150422172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgctgcttctgctcccgctCggcctccaggtcagtcacct	4	10	9	18	3	3	0	2	0	1	0	6	0	5	0	4	2	2	4	4	2	0	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:150422172C>T	ENST00000389378.2	-	11	1651	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	TNIP1_ENST00000523200.1_Missense_Mutation_p.E355K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E355K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E355K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E302K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000315050.7_Missense_Mutation_p.E355K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E355K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	355	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTCCCGCTCGGCCTCCAGG	0.572													8	45					0	0	0	0	T	150422172	C	T	150422172	3	4	481	1	0	0	0	0	1	0	0	0	16408	893	31	1	879	1	TNIP1	5	150422172	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	19407401	150422172	30493088	56	92752											
FAT2	2196	broad.mit.edu	37	chr5	150889584	150889602	+	Frame_Shift_Del	DEL	GTCTCCTGTGTAAGGATGA	GTCTCCTGTGTAAGGATGA	-																															ggcctctcctgggattacctGtctcctgtgtaaggatgagg																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:150889584_150889602delGTCTCCTGTGTAAGGATGA	ENST00000261800.5	-	21	12051_12069	c.12039_12057delTCATCCTTACACAGGAGAC	c.(12037-12057)ccfs	p.PHPYTGD4013fs	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4013	EGF-like 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGATTACCTGTCTCCTGTGTAAGGATGAGGGCAGTTAC	0.548													48	128	---	---	---	---					-	150889602	GTCTCCTGTGTAAGGATGA	-	150889584	7	5	481	1	0	1	0	1	0	0	0	0	5735	1368	48	0	1004	0	FAT2	5	150889584	Frame_Shift_Del	DEL	GTCTCCTGTGTAAGGATGA	TCGA-RS-A6TO-01A-32D-A34J-08	467412	150889584	30025676	57	92753											
GALNT10	55568	broad.mit.edu	37	chr5	153796440	153796440	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaaagtgaccataggatcTtcatgaacacctgcaaccca	14	8	8	11	0	2	3	1	3	1	0	2	4	2	4	3	1	3	1	3	1	4	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:153796440T>G	ENST00000297107.6	+	12	1857	c.1720T>G	c.(1720-1722)Ttc>Gtc	p.F574V	GALNT10_ENST00000377657.3_Missense_Mutation_p.F247V|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F512V|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	574	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCATAGGATCTTCATGAACAC	0.488													7	91					0	0	0	0	G	153796440	T	G	153796440	3	3	481	1	0	0	0	0	1	0	0	0	6257	1609	56	5	1766	5	GALNT10	5	153796440	Missense_Mutation	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	2906856	153796440	27118820	58	92754											
HLA-A	3105	broad.mit.edu	37	chr6	29910692	29910693	+	Frame_Shift_Ins	INS	-	-	A																															gcgggcgccgtggatagagcINSaggaggggccggagtattgg																								rs41559716	by1000genomes	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr6:29910692_29910693insA	ENST00000396634.1	+	4	573_574	c.232_233insA	c.(232-234)ggafs	p.G78fs	HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.G78fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.G78fs|HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.G78fs			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTGGATAGAGCAGGAGGGGCCG	0.658									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			9	48	---	---	---	---					A	29910693	-	A	29910692	7	5	481	1	0	1	1	0	0	0	0	0	7245	711	25	0	238	0	HLA-A	6	29910692	Frame_Shift_Ins	INS	-	TCGA-RS-A6TO-01A-32D-A34J-08		29910692	141204375	59	92755											
DST	667	broad.mit.edu	37	chr6	56473226	56473226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgagtccaacatagcctCgctgagcttccaggaccaga	13	7	9	12	1	0	3	0	2	0	1	3	4	2	4	4	1	3	2	4	1	3	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr6:56473226C>T	ENST00000370754.5	-	39	6100	c.6101G>A	c.(6100-6102)cGa>cAa	p.R2034Q	DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R1856Q|DST_ENST00000370769.4_Missense_Mutation_p.R1856Q|DST_ENST00000446842.2_Missense_Mutation_p.R1530Q|DST_ENST00000361203.3_Missense_Mutation_p.R1856Q|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	1856					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACATAGCCTCGCTGAGCTTC	0.438													31	54					0	0	0	0	T	56473226	C	T	56473226	3	4	481	1	0	0	0	0	1	0	0	0	4819	899	31	1		1	DST	6	56473226	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	26562534	56473226	114641841	60	92756											
ZNF292	23036	broad.mit.edu	37	chr6	87968210	87968211	+	Frame_Shift_Ins	INS	-	-	A																															caagatccagtcatttaaatINSaaaaagggaaacagtgcttc																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr6:87968210_87968211insA	ENST00000369577.3	+	8	4906_4907	c.4863_4864insA	c.(4861-4866)aaaaaafs	p.KK1621fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.KK1616fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCATTTAAATAAAAAGGGAAA	0.381													7	35	---	---	---	---					A	87968211	-	A	87968210	7	5	481	1	0	1	1	0	0	0	0	0	17921	1403	49	0	4893	0	ZNF292	6	87968210	Frame_Shift_Ins	INS	-	TCGA-RS-A6TO-01A-32D-A34J-08	31494984	87968210	83146857	61	92757											
FOXK1	221937	broad.mit.edu	37	chr7	4796636	4796636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccctgcagaattctatccgGcacaacctctctttgaaccg	9	11	6	15	2	2	2	0	1	2	1	5	2	4	2	4	1	3	2	4	1	4	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:4796636G>A	ENST00000328914.4	+	5	1062	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R	FOXK1_ENST00000446823.1_Silent_p.R191R	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	354					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ATTCTATCCGGCACAACCTCT	0.522													4	117					0	0	0	0	A	4796636	G	A	4796636	2	1	481	1	0	0	0	0	0	0	0	1	6061	1190	42	4		4	FOXK1	7	4796636	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		4796636	154342027	62	92758											
SCIN	85477	broad.mit.edu	37	chr7	12675695	12675695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcaaatgccacacgagatGagctgacaacatctgcgttc	13	7	10	11	2	1	3	0	2	1	1	2	5	1	3	1	0	5	3	1	0	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:12675695G>A	ENST00000297029.5	+	10	1446	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SCIN_ENST00000445618.2_Missense_Mutation_p.E202K|SCIN_ENST00000519209.1_Missense_Mutation_p.E202K	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	449	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CACACGAGATGAGCTGACAAC	0.463													5	21					0	0	0	0	A	12675695	G	A	12675695	3	1	481	1	0	0	0	0	1	0	0	0	13992	1291	45	2	1383	2	SCIN	7	12675695	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	7879059	12675695	146462968	63	92759											
NFE2L3	9603	broad.mit.edu	37	chr7	26223354	26223354	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacagatacttctttctctCtggaagacttattccagttg	9	15	8	9	0	3	2	0	0	3	2	5	4	4	4	1	2	1	1	1	2	3	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:26223354C>G	ENST00000056233.3	+	3	1043	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	262					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTCTTTCTCTCTGGAAGACTT	0.413													16	111					0	0	0	0	G	26223354	C	G	26223354	3	3	481	1	0	0	0	0	1	0	0	0	10439	912	32	2	794	2	NFE2L3	7	26223354	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	13547659	26223354	132915309	64	92760			1	151		3	3	1430	C		4.754036e-05
NFE2L3	9603	broad.mit.edu	37	chr7	26224177	26224177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcattgggagatattcctCttccaggcagtatcagtgat	9	14	9	9	0	3	2	2	1	2	1	6	3	5	2	2	2	0	2	2	2	2	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:26224177C>G	ENST00000056233.3	+	4	1118	c.859C>G	c.(859-861)Ctt>Gtt	p.L287V		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	287					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGATATTCCTCTTCCAGGCAG	0.403													32	204					0	0	0	0	G	26224177	C	G	26224177	3	3	481	1	0	0	0	0	1	0	0	0	10439	913	32	2	873	2	NFE2L3	7	26224177	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	823	26224177	132914486	65	92761			1	151		3	3	1430	C		4.754036e-05
NFE2L3	9603	broad.mit.edu	37	chr7	26224783	26224783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctgatttccatggagatCttacatttcaacacgtattt	11	17	5	8	1	3	2	1	1	2	1	4	3	4	2	1	1	2	1	1	1	3	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:26224783C>T	ENST00000056233.3	+	4	1724	c.1465C>T	c.(1465-1467)Ctt>Ttt	p.L489F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	489					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCATGGAGATCTTACATTTCA	0.438													30	164					0	0	0	0	T	26224783	C	T	26224783	3	4	481	1	0	0	0	0	1	0	0	0	10439	913	32	2	1479	2	NFE2L3	7	26224783	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	606	26224783	132913880	66	92762			1	151		3	3	1430	C		4.754036e-05
DPY19L1	23333	broad.mit.edu	37	chr7	35009117	35009117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaaatgcagagtgcaatCaagcttcctctataaagttt	13	13	8	7	0	2	1	1	0	1	1	3	2	3	2	1	1	3	4	1	1	6	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:35009117C>T	ENST00000310974.4	-	9	867	c.723G>A	c.(721-723)ttG>ttA	p.L241L	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	241						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AGAGTGCAATCAAGCTTCCTC	0.353													16	46					0	0	0	0	T	35009117	C	T	35009117	2	4	481	1	0	0	0	0	0	0	0	1	4776	825	29	2		2	DPY19L1	7	35009117	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	8784334	35009117	124129546	67	92763											
MYO1G	64005	broad.mit.edu	37	chr7	45009308	45009308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagccgggggcacctggCggctggtgtagtgtaggtga	6	7	20	8	2	0	1	0	1	0	0	0	2	0	2	2	7	1	4	2	7	2	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:45009308C>A	ENST00000258787.7	-	11	1635	c.1499G>T	c.(1498-1500)cGc>cTc	p.R500L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	500	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGCACCTGGCGGCTGGTGTA	0.667													20	121					8.10497e-08	8.67878e-08	1	0	A	45009308	C	A	45009308	3	1	481	1	0	0	0	0	1	0	0	0	10144	768	27	3	1605	3	MYO1G	7	45009308	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	10000191	45009308	114129355	68	92764											
IKZF1	10320	broad.mit.edu	37	chr7	50468225	50468225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggctgccacggcttccGtgatccttttgagtgcaaca	7	11	11	12	2	0	2	0	2	0	0	2	2	2	2	3	2	3	3	3	2	1	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:50468225G>A	ENST00000331340.3	+	8	1615	c.1460G>A	c.(1459-1461)cGt>cAt	p.R487H	IKZF1_ENST00000357364.4_Missense_Mutation_p.R400H|IKZF1_ENST00000343574.5_Missense_Mutation_p.R400H|IKZF1_ENST00000349824.4_Missense_Mutation_p.R344H|IKZF1_ENST00000346667.4_Missense_Mutation_p.R257H|IKZF1_ENST00000438033.1_Missense_Mutation_p.R400H|IKZF1_ENST00000439701.1_Missense_Mutation_p.R445H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.R445H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	487					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACGGCTTCCGTGATCCTTTT	0.577			"D,T"	BCL6	"ALL, DLBCL"								33	46					0	0	0	0	A	50468225	G	A	50468225	3	1	481	1	0	0	0	0	1	0	0	0	7667	1145	40	1	1486	1	IKZF1	7	50468225	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	5458917	50468225	108670438	69	92765											
TRIM4	89122	broad.mit.edu	37	chr7	99489911	99489913	+	In_Frame_Del	DEL	AGA	AGA	-																															cactccgtccacagcgctgtAgaaggagacattcccagtcc																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:99489911_99489913delAGA	ENST00000355947.2	-	7	1505_1507	c.1376_1378delTCT	c.(1375-1380)tac>t	p.FY459del	TRIM4_ENST00000349062.2_In_Frame_Del_p.FY433del	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	459	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	p.F459S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ACAGCGCTGTAGAAGGAGACATT	0.532													45	165	---	---	---	---					-	99489913	AGA	-	99489911	7	5	481	1	0	1	0	1	0	0	0	0	16609	420	15	0	128	0	TRIM4	7	99489911	In_Frame_Del	DEL	AGA	TCGA-RS-A6TO-01A-32D-A34J-08	49021686	99489911	59648752	70	92766											
SLC4A2	6522	broad.mit.edu	37	chr7	150771302	150771302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaacacggccctgctgtcGctggtgctcatggccggcac	5	7	12	17	3	1	0	1	0	0	0	2	0	1	0	3	4	3	4	3	4	1	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:150771302G>A	ENST00000485713.1	+	17	3752	c.2712G>A	c.(2710-2712)tcG>tcA	p.S904S	SLC4A2_ENST00000310317.5_Silent_p.S822S|SLC4A2_ENST00000413384.2_Silent_p.S904S|SLC4A2_ENST00000392826.2_Silent_p.S895S|SLC4A2_ENST00000461735.1_Silent_p.S890S	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	904	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		CCCTGCTGTCGCTGGTGCTCA	0.667													9	73					0	0	0	0	A	150771302	G	A	150771302	2	1	481	1	0	0	0	0	0	0	0	1	14742	1074	38	1		1	SLC4A2	7	150771302	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	51281391	150771302	8367361	71	92767											
SMARCD3	6604	broad.mit.edu	37	chr7	150939642	150939642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatcctcagcatcaggcttCgcagggttaaaagtgttgga	11	10	12	8	1	2	0	2	0	0	0	4	2	3	1	1	3	1	5	1	3	3	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:150939642C>T	ENST00000392811.2	-	6	939	c.465G>A	c.(463-465)gcG>gcA	p.A155A	SMARCD3_ENST00000262188.8_Silent_p.A168A|SMARCD3_ENST00000356800.2_Silent_p.A155A|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	p.A155A(3)|p.A168A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCAGGCTTCGCAGGGTTAA	0.577													65	132					0	0	0	0	T	150939642	C	T	150939642	2	4	481	1	0	0	0	0	0	0	0	1	14867	871	31	1		1	SMARCD3	7	150939642	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	168340	150939642	8199021	72	92768											
FGF17	8822	broad.mit.edu	37	chr8	21905600	21905600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggccccgccaggcttcccGcagccgccagaaccagcgcg	6	2	13	20	6	0	1	0	0	0	1	1	1	1	1	7	2	3	2	7	2	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:21905600G>A	ENST00000359441.3	+	5	994	c.491G>A	c.(490-492)cGc>cAc	p.R164H	FGF17_ENST00000521709.1_3'UTR|FGF17_ENST00000518533.1_Missense_Mutation_p.R153H	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	164					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CAGGCTTCCCGCAGCCGCCAG	0.647													14	10					0	0	0	0	A	21905600	G	A	21905600	3	1	481	1	0	0	0	0	1	0	0	0	5890	1087	38	1	509	1	FGF17	8	21905600	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		21905600	124458422	73	92769											
CDCA2	157313	broad.mit.edu	37	chr8	25344843	25344843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataacaaggacttctaacaGaagaaatgtaagtgtttgtg	17	11	9	4	0	1	2	0	0	1	2	1	3	1	3	0	1	2	2	0	1	7	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:25344843G>T	ENST00000330560.3	+	12	2003	c.1526G>T	c.(1525-1527)aGa>aTa	p.R509I	CDCA2_ENST00000380665.3_Missense_Mutation_p.R494I|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	509					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACTTCTAACAGAAGAAATGTA	0.328													23	112					1.85244e-09	2.01027e-09	1	0	T	25344843	G	T	25344843	3	4	481	1	0	0	0	0	1	0	0	0	3115	942	33	2	1568	2	CDCA2	8	25344843	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	3439243	25344843	121019179	74	92770											
IKBKB	3551	broad.mit.edu	37	chr8	42176072	42176072	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgtctctgtctccagttCaagagcccaagaggaatctc	9	12	9	11	0	4	2	1	0	3	2	7	3	4	3	2	1	1	1	2	1	3	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:42176072C>T	ENST00000520810.1	+	13	1429	c.1243C>T	c.(1243-1245)Caa>Taa	p.Q415*	IKBKB_ENST00000520835.1_Nonsense_Mutation_p.Q413*|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Nonsense_Mutation_p.Q192*|IKBKB_ENST00000416505.2_Nonsense_Mutation_p.Q356*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	415					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GTCTCCAGTTCAAGAGCCCAA	0.498													53	41					0	0	0	0	T	42176072	C	T	42176072	4	4	481	1	0	0	0	0	0	1	0	0	7664	827	29	2	1289	2	IKBKB	8	42176072	Nonsense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	16831229	42176072	104187950	75	92771											
CLVS1	157807	broad.mit.edu	37	chr8	62289331	62289331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttaaactggccattgaagGgttgcaggtatgttcaatga	11	12	11	7	0	1	2	1	2	0	0	1	2	1	2	2	3	2	4	2	3	5	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:62289331G>A	ENST00000519846.1	+	4	1095	c.623G>A	c.(622-624)gGg>gAg	p.G208E	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.G208E			Q8IUQ0	CLVS1_HUMAN	clavesin 1	208	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCCATTGAAGGGTTGCAGGTA	0.358													43	64					0	0	0	0	A	62289331	G	A	62289331	3	1	481	1	0	0	0	0	1	0	0	0	3601	1232	43	4	629	4	CLVS1	8	62289331	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	20113259	62289331	84074691	76	92772											
ZFHX4	79776	broad.mit.edu	37	chr8	77754951	77754951	+	Frame_Shift_Del	DEL	A	A	-																															agcagtggccgaggacgatgAaaaagacacaagtgagagag																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:77754951delA	ENST00000521891.2	+	6	3903	c.3455delA	c.(3454-3456)gafs	p.E1152fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.E1126fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.E1117fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.E1117fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1117						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGGACGATGAAAAAGACACA	0.433										HNSCC(33;0.089)			2	4	---	---	---	---					-	77754951	A	-	77754951	7	5	481	1	0	1	0	1	0	0	0	0	17730	246	9	0	3473	0	ZFHX4	8	77754951	Frame_Shift_Del	DEL	A	TCGA-RS-A6TO-01A-32D-A34J-08	15465620	77754951	68609071	77	92773											
SLC10A5	347051	broad.mit.edu	37	chr8	82606749	82606749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaccaaatgcacacttattCaatagtattagtggtaaaat	17	12	5	7	0	1	0	1	0	0	0	1	0	1	0	1	1	2	3	1	1	9	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:82606749C>G	ENST00000518568.1	-	1	1660	c.459G>C	c.(457-459)ttG>ttC	p.L153F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	153						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CACACTTATTCAATAGTATTA	0.353													36	132					0	0	0	0	G	82606749	C	G	82606749	3	3	481	1	0	0	0	0	1	0	0	0	14465	825	29	2	859	2	SLC10A5	8	82606749	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	4851798	82606749	63757273	78	92774											
RUNX1T1	862	broad.mit.edu	37	chr8	93003946	93003946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtggtgggcaatggccatAtcatccaaacggtaatgctg	11	10	12	8	1	1	0	1	0	0	0	2	0	2	0	2	4	2	3	2	4	5	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:93003946A>G	ENST00000523629.1	-	7	1366	c.912T>C	c.(910-912)gaT>gaC	p.D304D	RUNX1T1_ENST00000518844.1_Silent_p.D277D|RUNX1T1_ENST00000396218.1_Silent_p.D277D|RUNX1T1_ENST00000360348.2_Silent_p.D267D|RUNX1T1_ENST00000265814.3_Silent_p.D304D|RUNX1T1_ENST00000422361.2_Silent_p.D267D|RUNX1T1_ENST00000436581.2_Silent_p.D315D|RUNX1T1_ENST00000520724.1_Silent_p.D267D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	304					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAATGGCCATATCATCCAAAC	0.567													99	130					0	0	0	0	G	93003946	A	G	93003946	2	3	481	1	0	0	0	0	0	0	0	1	13832	446	16	5		5	RUNX1T1	8	93003946	Silent	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	10397197	93003946	53360076	79	92775											
LRP12	29967	broad.mit.edu	37	chr8	105503260	105503260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcgtcctaatgtaaaacGtacccagcgtagcccctgag	11	9	9	12	3	0	2	0	2	0	0	2	2	1	2	4	0	4	3	4	0	5	4	rs141755380		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:105503260G>A	ENST00000276654.5	-	7	2329	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	LRP12_ENST00000424843.2_Missense_Mutation_p.R722C|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	741					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			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)			AATGTAAAACGTACCCAGCGT	0.478													37	76					0	0	0	0	A	105503260	G	A	105503260	3	1	481	1	0	0	0	0	1	0	0	0	9018	1145	40	1	362	1	LRP12	8	105503260	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	12499314	105503260	40860762	80	92776											
KLHL38	340359	broad.mit.edu	37	chr8	124664012	124664012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatccccccgatggagaaGatgaagttcttatgggcagt	11	9	11	10	1	1	3	0	1	1	2	2	5	2	3	4	2	0	2	4	2	4	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:124664012G>C	ENST00000325995.7	-	1	1178	c.1155C>G	c.(1153-1155)atC>atG	p.I385M	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	385										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGATGGAGAAGATGAAGTTCT	0.557													6	157					0	0	0	0	C	124664012	G	C	124664012	3	2	481	1	0	0	0	0	1	0	0	0	8442	932	33	2	602	2	KLHL38	8	124664012	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	19160752	124664012	21700010	81	92777											
COL22A1	169044	broad.mit.edu	37	chr8	139793188	139793188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcatgcctttgctgccGtctctcccaggggggccggg	3	10	13	15	2	2	0	1	0	2	0	5	0	3	0	4	4	3	1	4	4	0	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:139793188G>A	ENST00000303045.6	-	13	2078	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	COL22A1_ENST00000435777.1_Silent_p.D544D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	544	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTGCTGCCGTCTCTCCCAG	0.527										HNSCC(7;0.00092)			33	74					0	0	0	0	A	139793188	G	A	139793188	2	1	481	1	0	0	0	0	0	0	0	1	3711	1136	40	1		1	COL22A1	8	139793188	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	15129176	139793188	6570834	82	92778											
TSNARE1	203062	broad.mit.edu	37	chr8	143399953	143399953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgcttcacggagctggcGctggctgcaatggtcttgtt	5	13	13	10	2	3	0	1	0	2	0	3	1	3	1	0	4	3	6	0	4	1	3	rs144275934		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:143399953G>A	ENST00000519651.1	-	5	382	c.279C>T	c.(277-279)agC>agT	p.S93S	TSNARE1_ENST00000307180.3_Silent_p.S312S|TSNARE1_ENST00000520166.1_Silent_p.S312S|TSNARE1_ENST00000524325.1_Silent_p.S312S|TSNARE1_ENST00000518928.1_5'UTR			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	312					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGAGCTGGCGCTGGCTGCAA	0.657													21	168					0	0	0	0	A	143399953	G	A	143399953	2	1	481	1	0	0	0	0	0	0	0	1	16725	1078	38	1		1	TSNARE1	8	143399953	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	3606765	143399953	2964069	83	92779											
SCRIB	23513	broad.mit.edu	37	chr8	144893330	144893330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccggttccccgccacGtccagcacgtgcagctctgt	6	8	9	18	4	2	0	1	0	1	0	4	0	4	0	5	1	3	4	5	1	0	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:144893330G>A	ENST00000356994.2	-	10	1098	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	SCRIB_ENST00000377533.3_Silent_p.D283D|SCRIB_ENST00000320476.3_Silent_p.D364D	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	364	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCCCCGCCACGTCCAGCACGT	0.701													4	30					0	0	0	0	A	144893330	G	A	144893330	2	1	481	1	0	0	0	0	0	0	0	1	14024	1136	40	1		1	SCRIB	8	144893330	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1493377	144893330	1470692	84	92780											
DOCK8	81704	broad.mit.edu	37	chr9	368169	368169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaacatttgcctcaaatcaGggtgggctgctcacccctgt	8	10	10	13	1	3	0	3	0	0	0	3	1	3	0	3	2	3	2	3	2	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:368169G>A	ENST00000382329.1	+	2	454	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000469391.1_Intron|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000453981.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	0					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTCAAATCAGGGTGGGCTGC	0.498													18	89					0	0	0	0	A	368169	G	A	368169	3	1	481	1	0	0	0	0	1	0	0	0	4729	1015	35	4		4	DOCK8	9	368169	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		368169	140845262	85	92781											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	8					0	0	0	0	A	21971120	G	A	21971120	4	1	481	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	21602951	21971120	119242311	86	92782											
TESK1	7016	broad.mit.edu	37	chr9	35608973	35608973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaatcaccccccaactgggGggacaatctgactcgagtca	12	6	10	13	1	3	2	2	1	1	1	4	4	3	3	3	3	1	0	3	3	3	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:35608973G>A	ENST00000336395.5	+	10	1365	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	372					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAACTGGGGGGACAATCTG	0.612													22	109					0	0	0	0	A	35608973	G	A	35608973	3	1	481	1	0	0	0	0	1	0	0	0	15861	1232	43	4	1153	4	TESK1	9	35608973	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	13637853	35608973	105604458	87	92783											
GOLM1	51280	broad.mit.edu	37	chr9	88694257	88694257	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaaatcagcgctgagaatCtgccaagtaaaagcaaataa	19	7	7	8	1	3	1	2	1	1	1	3	2	3	1	1	0	3	3	1	0	8	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:88694257C>T	ENST00000388712.3	-	2	148		c.e2-1		GOLM1_ENST00000388711.3_Splice_Site	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1							Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CGCTGAGAATCTGCCAAGTAA	0.502													20	57					0	0	0	0	T	88694257	C	T	88694257	5	4	481	1	0	0	0	0	0	0	1	0	6615	927	32	2		2	GOLM1	9	88694257	Splice_Site	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	53085284	88694257	52519174	88	92784											
ISCA1	81689	broad.mit.edu	37	chr9	88881057	88881057	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaacatagtccatttcTgttcctaaaagtgttagctg	10	16	6	9	0	3	0	1	0	2	0	5	0	5	0	2	0	2	3	2	0	5	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:88881057T>C	ENST00000375991.4	-	4	361	c.291A>G	c.(289-291)acA>acG	p.T97T	ISCA1_ENST00000311534.6_5'UTR|ISCA1_ENST00000452279.2_Silent_p.T144T	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	97					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		AGTCCATTTCTGTTCCTAAAA	0.383													28	244					0	0	0	0	C	88881057	T	C	88881057	2	2	481	1	0	0	0	0	0	0	0	1	7902	1567	55	5		5	ISCA1	9	88881057	Silent	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	186800	88881057	52332374	89	92785											
SUSD3	203328	broad.mit.edu	37	chr9	95838220	95838220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcacctggaaggggagcatCgctgagtggtcttcagggtc	7	9	16	9	1	2	1	1	1	1	0	4	3	2	3	1	5	2	3	1	5	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:95838220C>T	ENST00000375472.3	+	2	279	c.243C>T	c.(241-243)atC>atT	p.I81I	SUSD3_ENST00000375469.1_Silent_p.I68I	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	81	Sushi.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AGGGGAGCATCGCTGAGTGGT	0.637													8	98					0	0	0	0	T	95838220	C	T	95838220	2	4	481	1	0	0	0	0	0	0	0	1	15499	874	31	1		1	SUSD3	9	95838220	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	6957163	95838220	45375211	90	92786											
ABCA1	19	broad.mit.edu	37	chr9	107576453	107576453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatcttcagtgaacgggcGaagacagctctgcttgtccc	9	10	10	12	2	4	2	2	1	2	1	5	3	5	2	1	1	3	2	1	1	2	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:107576453G>A	ENST00000374736.3	-	27	4241	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1283					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTGAACGGGCGAAGACAGCTC	0.463													16	79					0	0	0	0	A	107576453	G	A	107576453	3	1	481	1	0	0	0	0	1	0	0	0	28	1058	37	1	3034	1	ABCA1	9	107576453	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	11738233	107576453	33636978	91	92787											
SVEP1	79987	broad.mit.edu	37	chr9	113208209	113208209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatgtcgtcagaggatttCatccagaaggtacaggttag	11	12	11	7	1	3	2	3	0	0	2	5	3	4	3	1	3	1	2	1	3	3	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:113208209C>T	ENST00000401783.2	-	26	4707	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	SVEP1_ENST00000374469.1_Missense_Mutation_p.M1434I|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.M1457I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1457	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAGGATTTCATCCAGAAGG	0.453													14	102					0	0	0	0	T	113208209	C	T	113208209	3	4	481	1	0	0	0	0	1	0	0	0	15510	826	29	2	6436	2	SVEP1	9	113208209	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	5631756	113208209	28005222	92	92788											
TLR4	7099	broad.mit.edu	37	chr9	120476222	120476222	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcttggtggaagttgaaCgaatggaatgtgcaacacct	12	10	12	7	1	1	1	0	1	1	0	1	4	1	3	1	3	4	3	1	3	5	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:120476222C>T	ENST00000355622.6	+	3	1917	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.R566*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	606	LRRCT.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGAAGTTGAACGAATGGAATG	0.443													31	59					0	0	0	0	T	120476222	C	T	120476222	4	4	481	1	0	0	0	0	0	1	0	0	16047	528	19	1	1826	1	TLR4	9	120476222	Nonsense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	7268013	120476222	20737209	93	92789											
DENND1A	57706	broad.mit.edu	37	chr9	126214554	126214554	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcaagaccagtacttaCgaacttgtagacagtcttca	14	9	8	10	1	2	2	1	0	1	2	2	4	2	2	1	0	4	3	1	0	5	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:126214554C>T	ENST00000373624.2	-	17	1501		c.e17+1		DENND1A_ENST00000394219.3_Splice_Site|DENND1A_ENST00000373618.1_Splice_Site|DENND1A_ENST00000394215.2_Splice_Site|DENND1A_ENST00000542603.1_Splice_Site|DENND1A_ENST00000473039.1_Splice_Site|DENND1A_ENST00000373620.3_Splice_Site	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A							cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCAGTACTTACGAACTTGTAG	0.378													10	99					0	0	0	0	T	126214554	C	T	126214554	5	4	481	1	0	0	0	0	0	0	1	0	4463	550	19	1	1860	1	DENND1A	9	126214554	Splice_Site	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	5738332	126214554	14998877	94	92790											
LHX2	9355	broad.mit.edu	37	chr9	126777643	126777643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccgacgtggcagcggCggccgctgcagccgcggcgg	4	3	18	16	8	0	0	0	0	0	0	0	1	0	0	4	5	4	3	4	5	0	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:126777643C>T	ENST00000373615.4	+	3	1305	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	189	Poly-Ala.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GTGGCAGCGGCGGCCGCTGCA	0.677													9	53					0	0	0	0	T	126777643	C	T	126777643	3	4	481	1	0	0	0	0	1	0	0	0	8825	768	27	1	576	1	LHX2	9	126777643	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	563089	126777643	14435788	95	92791											
SETX	23064	broad.mit.edu	37	chr9	135173682	135173682	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggaaaggtaacactCagttttcccattacgcacta	12	11	8	10	1	1	0	1	0	0	0	2	2	2	2	1	3	2	3	1	3	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:135173682C>A	ENST00000372169.2	-	13	5748	c.5566G>T	c.(5566-5568)Gag>Tag	p.E1856*	SETX_ENST00000393220.1_Nonsense_Mutation_p.E1856*|SETX_ENST00000224140.5_Nonsense_Mutation_p.E1856*			Q7Z333	SETX_HUMAN	senataxin	1856					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGGTAACACTCAGTTTTCCCA	0.373													59	88					6.83704e-37	7.69564e-37	1	0	A	135173682	C	A	135173682	4	1	481	1	0	0	0	0	0	1	0	0	14228	835	29	2	2523	2	SETX	9	135173682	Nonsense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	8396039	135173682	6039749	96	92792											
DNLZ	728489	broad.mit.edu	37	chr9	139256512	139256512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggaccctcatcctcaccCgcttccggagctgcagtgga	6	7	13	15	2	2	0	2	0	0	0	4	3	4	3	4	4	2	3	4	4	0	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:139256512C>T	ENST00000371739.3	-	2	353	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	DNLZ_ENST00000371738.3_Silent_p.A163A			Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	0							metal ion binding			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		CATCCTCACCCGCTTCCGGAG	0.692													3	21					0	0	0	0	T	139256512	C	T	139256512	3	4	481	1	0	0	0	0	1	0	0	0	4705	639	23	1	51	1	DNLZ	9	139256512	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	4082830	139256512	1956919	97	92793											
PTGDS	5730	broad.mit.edu	37	chr9	139872000	139872000	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccacaccactggcaccAggccccggacacccgctctg	7	5	8	21	2	2	0	0	0	2	0	3	1	2	1	6	3	0	2	6	3	0	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:139872000A>T	ENST00000224167.2	+	0	45				PTGDS_ENST00000371625.3_De_novo_Start_OutOfFrame			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)						prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACTGGCACCAGGCCCCGGAC	0.667													6	8					0	0	0	0	T	139872000	A	T	139872000	1	4	481	1	0	0	0	0	0	0	0	0	12821	203	7	5		5	PTGDS	9	139872000	Translation_Start_Site	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	615488	139872000	1341431	98	92794											
USP6NL	9712	broad.mit.edu	37	chr10	11531113	11531113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttaccatgcatggcatGtttagggcctgagaagagtt	9	14	11	7	0	1	2	0	1	1	2	1	3	1	2	2	2	2	4	2	2	3	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:11531113G>T	ENST00000379237.1	-	10	1046	c.652C>A	c.(652-654)Cat>Aat	p.H218N	USP6NL_ENST00000277575.5_Missense_Mutation_p.H235N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	218	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGCATGGCATGTTTAGGGCCT	0.423													22	105					3.5997e-14	4.01441e-14	1	0	T	11531113	G	T	11531113	3	4	481	1	0	0	0	0	1	0	0	0	17183	1377	48	4	1858	4	USP6NL	10	11531113	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		11531113	124003634	99	92795											
HSPA14	51182	broad.mit.edu	37	chr10	14891737	14891737	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaacggcacattctgtaTtgggctcagatgcaaatgat	13	10	10	8	1	2	3	1	1	1	2	2	3	2	3	0	2	2	4	0	2	3	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:14891737T>C	ENST00000378372.3	+	6	633	c.394T>C	c.(394-396)Ttg>Ctg	p.L132L		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	132					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						ACATTCTGTATTGGGCTCAGA	0.328													10	63					0	0	0	0	C	14891737	T	C	14891737	2	2	481	1	0	0	0	0	0	0	0	1	7459	1490	52	5		5	HSPA14	10	14891737	Silent	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	3360624	14891737	120643010	100	92796											
PTER	9317	broad.mit.edu	37	chr10	16526539	16526539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctatttccaaagaacctatCgtgatgaaaaatttatattg	15	14	6	6	1	0	3	0	2	0	1	2	3	1	3	2	0	1	1	2	0	8	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:16526539C>T	ENST00000378000.1	+	3	402	c.156C>T	c.(154-156)atC>atT	p.I52I	PTER_ENST00000535784.2_Silent_p.I52I|PTER_ENST00000423462.2_Silent_p.I52I|PTER_ENST00000298942.3_Silent_p.I52I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	52					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAGAACCTATCGTGATGAAAA	0.438													7	94					0	0	0	0	T	16526539	C	T	16526539	2	4	481	1	0	0	0	0	0	0	0	1	12818	874	31	1		1	PTER	10	16526539	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	1634802	16526539	119008208	101	92797											
EGR2	1959	broad.mit.edu	37	chr10	64573000	64573000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgagaggagcaaggggcGagcggccctccgccaagact	9	3	16	13	4	0	2	0	0	0	2	2	5	2	3	4	4	2	1	4	4	2	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:64573000G>A	ENST00000242480.3	-	2	1723	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	EGR2_ENST00000411732.1_Silent_p.L416L|EGR2_ENST00000439032.1_Silent_p.L466L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	466					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCAAGGGGCGAGCGGCCCTC	0.652													25	110					0	0	0	0	A	64573000	G	A	64573000	2	1	481	1	0	0	0	0	0	0	0	1	5008	1045	37	1		1	EGR2	10	64573000	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	48046461	64573000	70961747	102	92798											
HNRNPH3	3189	broad.mit.edu	37	chr10	70098948	70098948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taataattacggctatgggaAtgatggctttgatgacagaa	14	12	11	4	1	0	4	0	3	0	1	0	5	0	5	0	3	1	2	0	3	6	5	rs2273903	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:70098948A>T	ENST00000265866.7	+	5	653	c.488A>T	c.(487-489)aAt>aTt	p.N163I	HNRNPH3_ENST00000441000.2_Missense_Mutation_p.N55I|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.N148I	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	163	Gly-rich.		N -> S (in dbSNP:rs2273903).		nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGCTATGGGAATGATGGCTTT	0.328													21	80					0	0	0	0	T	70098948	A	T	70098948	3	4	481	1	0	0	0	0	1	0	0	0	7318	101	4	5	502	5	HNRNPH3	10	70098948	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	5525948	70098948	65435799	103	92799											
LRIT1	26103	broad.mit.edu	37	chr10	85997337	85997337	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggcctgaaggcctcGccaggaaccctgcgtatggc	7	5	14	15	2	0	1	0	1	0	0	1	2	0	2	5	5	2	1	5	5	3	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:85997337G>T	ENST00000372105.3	-	2	249	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	76						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGAAGGCCTCGCCAGGAACCC	0.701													12	45					0.000978159	0.000994599	1	0	T	85997337	G	T	85997337	2	4	481	1	0	0	0	0	0	0	0	1	9011	1074	38	3		3	LRIT1	10	85997337	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	15898389	85997337	49537410	104	92800											
FRA10AC1	118924	broad.mit.edu	37	chr10	95458092	95458092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgcaacttgtttatgggCcacctttccatgtttttctt	5	19	7	10	0	1	0	0	0	1	0	2	0	2	0	3	1	3	4	3	1	2	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:95458092C>T	ENST00000359204.4	-	3	336	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.A47T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.A47T|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.A47T	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	47						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TGTTTATGGGCCACCTTTCCA	0.348													22	63					0	0	0	0	T	95458092	C	T	95458092	3	4	481	1	0	0	0	0	1	0	0	0	6088	739	26	4	856	4	FRA10AC1	10	95458092	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	9460755	95458092	40076655	105	92801											
COX15	1355	broad.mit.edu	37	chr10	101474348	101474348	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggtcctctaagaatcatTttgggactcttcggagttca	8	14	10	9	1	4	1	2	0	2	1	6	3	5	3	1	3	0	2	1	3	2	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:101474348T>G	ENST00000016171.5	-	9	1279	c.1229A>C	c.(1228-1230)aAa>aCa	p.K410T	COX15_ENST00000370483.5_Intron|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	410					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TAAGAATCATTTTGGGACTCT	0.493													8	44					0	0	0	0	G	101474348	T	G	101474348	3	3	481	1	0	0	0	0	1	0	0	0	3794	1841	64	5	77	5	COX15	10	101474348	Missense_Mutation	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	6016256	101474348	34060399	106	92802											
SORCS3	22986	broad.mit.edu	37	chr10	106960935	106960935	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaacgtaagccaggagctCagtgtgccctgggccgagac	11	5	14	11	2	1	2	1	0	0	2	1	4	1	3	3	2	4	2	3	2	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:106960935C>T	ENST00000369701.3	+	16	2412	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	SORCS3_ENST00000369699.4_Nonsense_Mutation_p.Q15*	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	729						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCAGGAGCTCAGTGTGCCCT	0.468													21	94					0	0	0	0	T	106960935	C	T	106960935	4	4	481	1	0	0	0	0	0	1	0	0	15020	827	29	2	2247	2	SORCS3	10	106960935	Nonsense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	5486587	106960935	28573812	107	92803											
EMX2	2018	broad.mit.edu	37	chr10	119303089	119303089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccctaccctcctcgcactCgccacaccccctattcgcct	5	8	3	25	3	0	0	0	0	0	0	4	0	1	0	8	0	1	1	8	0	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:119303089C>T	ENST00000553456.3	+	1	1135	c.311C>T	c.(310-312)tCg>tTg	p.S104L	EMX2_ENST00000442245.4_Missense_Mutation_p.S104L|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	104				S -> P (in Ref. 3; BAB70842).		nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCCTCGCACTCGCCACACCCC	0.701													7	79					0	0	0	0	T	119303089	C	T	119303089	3	4	481	1	0	0	0	0	1	0	0	0	5146	893	31	1	313	1	EMX2	10	119303089	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	12342154	119303089	16231658	108	92804											
ADAM12	8038	broad.mit.edu	37	chr10	127782640	127782640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgtcatgattcatcccGaaattgtggcccagctcatg	9	12	10	10	1	3	1	3	1	0	0	4	2	4	1	2	1	1	1	2	1	1	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:127782640G>A	ENST00000368679.4	-	11	1377	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ADAM12_ENST00000368676.4_Silent_p.F356F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	356	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.F356F(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GATTCATCCCGAAATTGTGGC	0.502													17	63					0	0	0	0	A	127782640	G	A	127782640	2	1	481	1	0	0	0	0	0	0	0	1	236	1049	37	1		1	ADAM12	10	127782640	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	8479551	127782640	7752107	109	92805											
DOCK1	1793	broad.mit.edu	37	chr10	129046280	129046280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcatttacagggaaacttCgtggcttgcatgacagctat	11	13	9	8	1	1	1	1	1	0	0	2	2	1	2	0	2	4	3	0	2	3	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:129046280C>T	ENST00000280333.6	+	28	2902	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	931					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.F931F(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGGGAAACTTCGTGGCTTGCA	0.403													7	28					0	0	0	0	T	129046280	C	T	129046280	2	4	481	1	0	0	0	0	0	0	0	1	4720	883	31	1		1	DOCK1	10	129046280	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	1263640	129046280	6488467	110	92806											
CARS	833	broad.mit.edu	37	chr11	3028178	3028178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggcatcgctgagctgcaGaatctcagggactgtaggag	10	7	15	9	1	1	2	1	1	1	1	3	4	1	4	0	3	2	5	0	3	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:3028178G>A	ENST00000397114.3	-	19	2177	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_Silent_p.L624L|CARS_ENST00000380525.4_Silent_p.L694L|CARS_ENST00000278224.9_Silent_p.L611L|CARS_ENST00000397111.5_Silent_p.L611L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	611					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTGAGCTGCAGAATCTCAGGG	0.602			T	ALK	ALCL								8	153					0	0	0	0	A	3028178	G	A	3028178	2	1	481	1	0	0	0	0	0	0	0	1	2682	933	33	2		2	CARS	11	3028178	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		3028178	131978338	111	92807											
OR52I2	143502	broad.mit.edu	37	chr11	4609034	4609034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaggaccaaacaactgcGggagagaatatggagttatc	15	7	12	7	1	0	2	0	1	0	1	1	6	0	5	1	3	3	1	1	3	5	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:4609034G>A	ENST00000312614.4	+	1	1014	c.992G>A	c.(991-993)cGg>cAg	p.R331Q		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R331L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACAACTGCGGGAGAGAATA	0.473													32	175					0	0	0	0	A	4609034	G	A	4609034	3	1	481	1	0	0	0	0	1	0	0	0	11192	1116	39	1	994	1	OR52I2	11	4609034	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1580856	4609034	130397482	112	92808											
HBD	3045	broad.mit.edu	37	chr11	5255647	5255647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcagtcttctcctcaGgagtcagatgcaccatggtg	9	10	11	11	0	4	2	2	1	2	1	5	3	4	3	2	2	2	2	2	2	0	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:5255647G>C	ENST00000380299.3	-	1	231	c.17C>G	c.(16-18)cCt>cGt	p.P6R	HBD_ENST00000292901.3_Missense_Mutation_p.P6R	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	6					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTCCTCAGGAGTCAGATG	0.502													18	58					0	0	0	0	C	5255647	G	C	5255647	3	2	481	1	0	0	0	0	1	0	0	0	7029	1000	35	4	438	4	HBD	11	5255647	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	646613	5255647	129750869	113	92809											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5655105	5655105	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctggaagctgacatCagagaagagaaaacttcctg	16	6	12	7	0	1	4	1	1	0	3	2	8	2	5	1	1	3	2	1	1	5	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:5655105C>A	ENST00000354852.5	+	9	1730	c.1557C>A	c.(1555-1557)atC>atA	p.I519I	TRIM6-TRIM34_ENST00000457787.2_Silent_p.I165I|TRIM34_ENST00000429814.2_Silent_p.I165I|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Silent_p.I165I	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		519						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AAGCTGACATCAGAGAAGAGA	0.473													6	40					0.0215528	0.0216422	1	0	A	5655105	C	A	5655105	2	1	481	1	0	0	0	0	0	0	0	1	16629	816	29	2		2	TRIM6-TRIM34	11	5655105	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	399458	5655105	129351411	114	92810											
IPO7	10527	broad.mit.edu	37	chr11	9455312	9455312	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcgcacagtttgacatgtCaacaagtgtctccacagatg	12	10	9	10	1	2	2	1	1	1	1	3	2	2	2	1	0	2	2	1	0	3	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:9455312C>T	ENST00000379719.3	+	18	2135	c.1993C>T	c.(1993-1995)Caa>Taa	p.Q665*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	665					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			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)		TTTGACATGTCAACAAGTGTC	0.398													18	71					0	0	0	0	T	9455312	C	T	9455312	4	4	481	1	0	0	0	0	0	1	0	0	7850	827	29	2	2063	2	IPO7	11	9455312	Nonsense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	3800207	9455312	125551204	115	92811											
SPI1	6688	broad.mit.edu	37	chr11	47399866	47399866	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcccggtactcacagggggGacgaggggaaacccttccat	9	6	14	12	2	1	0	1	0	0	0	3	3	3	2	3	6	2	1	3	6	2	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:47399866G>T	ENST00000378538.3	-	1	261	c.39C>A	c.(37-39)gtC>gtA	p.V13V	SPI1_ENST00000533030.1_Silent_p.V13V|SPI1_ENST00000227163.4_Silent_p.V13V|SPI1_ENST00000533968.1_Silent_p.V13V	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	13					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCACAGGGGGGACGAGGGGAA	0.682													4	12					1.23904e-05	1.30369e-05	1	0	T	47399866	G	T	47399866	2	4	481	1	0	0	0	0	0	0	0	1	15139	1161	41	2		2	SPI1	11	47399866	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	37944554	47399866	87606650	116	92812											
FOLH1	2346	broad.mit.edu	37	chr11	49208288	49208288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaatttaaagaagtcttCagttcgtgcatagttaacat	13	15	6	7	1	2	1	1	0	1	1	4	1	3	1	1	0	2	3	1	0	6	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:49208288C>T	ENST00000340334.7	-	6	870	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.E168K|FOLH1_ENST00000356696.3_Missense_Mutation_p.E183K|FOLH1_ENST00000256999.2_Missense_Mutation_p.E183K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	183					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAGAAGTCTTCAGTTCGTGCA	0.383													14	118					0	0	0	0	T	49208288	C	T	49208288	3	4	481	1	0	0	0	0	1	0	0	0	6024	835	29	2	1765	2	FOLH1	11	49208288	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	1808422	49208288	85798228	117	92813											
TIGD3	220359	broad.mit.edu	37	chr11	65124617	65124617	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttgaggaggtggtttgaAtgcaacagcacttctcctga	10	11	11	9	0	1	3	0	3	1	0	2	4	1	4	2	3	3	3	2	3	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:65124617A>G	ENST00000309880.5	+	2	1545	c.1338A>G	c.(1336-1338)gaA>gaG	p.E446E		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	446					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GGTGGTTTGAATGCAACAGCA	0.577													28	49					0	0	0	0	G	65124617	A	G	65124617	2	3	481	1	0	0	0	0	0	0	0	1	15991	98	4	5		5	TIGD3	11	65124617	Silent	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	15916329	65124617	69881899	118	92814											
CTSF	8722	broad.mit.edu	37	chr11	66335131	66335131	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggacttggaagctgcaGagctggagggagaggaagaa	13	5	17	6	0	0	3	0	0	0	3	1	8	1	7	1	5	3	3	1	5	3	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:66335131G>C	ENST00000310325.5	-	3	424	c.315C>G	c.(313-315)ctC>ctG	p.L105L	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	105					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGAAGCTGCAGAGCTGGAGGG	0.607													7	45					0	0	0	0	C	66335131	G	C	66335131	2	2	481	1	0	0	0	0	0	0	0	1	4066	929	33	2		2	CTSF	11	66335131	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1210514	66335131	68671385	119	92815											
LRFN4	78999	broad.mit.edu	37	chr11	66625772	66625772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttattgacgcactgccccCaggcgccttcgcccagctcg	5	8	9	19	4	0	1	0	1	0	0	2	1	0	1	5	1	2	2	5	1	1	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:66625772C>T	ENST00000309602.4	+	1	800	c.557C>T	c.(556-558)cCa>cTa	p.P186L	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P186L	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	186						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCACTGCCCCCAGGCGCCTTC	0.667													8	34					0	0	0	0	T	66625772	C	T	66625772	3	4	481	1	0	0	0	0	1	0	0	0	9004	594	21	4	559	4	LRFN4	11	66625772	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	290641	66625772	68380744	120	92816											
KCNE3	10008	broad.mit.edu	37	chr11	74168573	74168573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcacggcatgcaggctCtcataccaggtctccgttcc	7	10	9	15	2	3	0	2	0	2	0	6	0	4	0	3	3	3	5	3	3	1	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:74168573C>T	ENST00000310128.4	-	3	455	c.36G>A	c.(34-36)gaG>gaA	p.E12E	KCNE3_ENST00000525550.1_Silent_p.E12E|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	12						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CATGCAGGCTCTCATACCAGG	0.552													10	56					0	0	0	0	T	74168573	C	T	74168573	2	4	481	1	0	0	0	0	0	0	0	1	8077	912	32	2		2	KCNE3	11	74168573	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	7542801	74168573	60837943	121	92817											
SERPINH1	871	broad.mit.edu	37	chr11	75277979	75277979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaggacgtggagcgcacGgacggcgccctgctagtcaa	10	4	14	13	5	1	0	1	0	0	0	1	3	1	3	2	4	2	2	2	4	3	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:75277979G>A	ENST00000524558.1	+	2	2020	c.585G>A	c.(583-585)acG>acA	p.T195T	SERPINH1_ENST00000530284.1_Silent_p.T195T|SERPINH1_ENST00000533603.1_Silent_p.T195T|SERPINH1_ENST00000358171.3_Silent_p.T195T			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	195					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					TGGAGCGCACGGACGGCGCCC	0.662													9	47					0	0	0	0	A	75277979	G	A	75277979	2	1	481	1	0	0	0	0	0	0	0	1	14204	1103	39	1		1	SERPINH1	11	75277979	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1109406	75277979	59728537	122	92818											
KIAA1377	57562	broad.mit.edu	37	chr11	101833080	101833080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctacatttccagaccaagaGaaatattctgaattaaatca	17	11	5	8	0	2	3	1	1	1	2	3	4	3	3	2	0	1	1	2	0	7	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:101833080G>C	ENST00000263468.8	+	6	1584	c.1314G>C	c.(1312-1314)gaG>gaC	p.E438D	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E239D	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	438							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGACCAAGAGAAATATTCTG	0.378													5	82					0	0	0	0	C	101833080	G	C	101833080	3	2	481	1	0	0	0	0	1	0	0	0	8278	933	33	2	1336	2	KIAA1377	11	101833080	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	26555101	101833080	33173436	123	92819											
HSPB2	3316	broad.mit.edu	37	chr11	111784374	111784374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctggaggtgtctgccCggcacccccagcgcctggac	5	6	13	17	2	1	0	0	0	1	0	1	2	1	2	5	4	3	2	5	4	0	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:111784374C>T	ENST00000304298.3	+	2	892	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	CRYAB_ENST00000533475.1_5'UTR|HSPB2_ENST00000537382.1_Missense_Mutation_p.R102W|CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	102					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GGTGTCTGCCCGGCACCCCCA	0.627													11	74					0	0	0	0	T	111784374	C	T	111784374	3	4	481	1	0	0	0	0	1	0	0	0	7472	643	23	1	310	1	HSPB2	11	111784374	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	9951294	111784374	23222142	124	92820											
HTR3A	3359	broad.mit.edu	37	chr11	113857259	113857259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggtcatccgccggcggcCcctcttctatgtggtcagcc	3	10	13	15	3	4	0	2	0	2	0	5	0	5	0	5	5	1	0	5	5	1	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:113857259C>G	ENST00000504030.2	+	7	1170	c.725C>G	c.(724-726)cCc>cGc	p.P242R	HTR3A_ENST00000355556.2_Missense_Mutation_p.P248R|HTR3A_ENST00000375498.2_Missense_Mutation_p.P248R|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.P242R|HTR3A_ENST00000299961.5_Missense_Mutation_p.P227R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	242					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGCCGGCGGCCCCTCTTCTAT	0.612													16	81					0	0	0	0	G	113857259	C	G	113857259	3	3	481	1	0	0	0	0	1	0	0	0	7497	623	22	4	795	4	HTR3A	11	113857259	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	2072885	113857259	21149257	125	92821											
HYOU1	10525	broad.mit.edu	37	chr11	118917447	118917447	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttagcttcaatgtcttttGagagcaacacaggcttctct	9	15	7	10	0	4	1	1	1	3	1	5	2	4	1	0	1	3	3	0	1	3	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:118917447G>C	ENST00000404233.3	-	23	2787	c.2663C>G	c.(2662-2664)tCa>tGa	p.S888*	HYOU1_ENST00000525859.1_Nonsense_Mutation_p.S826*|HYOU1_ENST00000529972.1_Nonsense_Mutation_p.S826*	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	888						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AATGTCTTTTGAGAGCAACAC	0.567													5	133					0	0	0	0	C	118917447	G	C	118917447	4	2	481	1	0	0	0	0	0	1	0	0	7523	1294	45	2	352	2	HYOU1	11	118917447	Nonsense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	5060188	118917447	16089069	126	92822											
TECTA	7007	broad.mit.edu	37	chr11	120979946	120979946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaacggagttgtttccttCaatgtgctagtgagccagtt	10	13	10	8	1	1	1	1	1	0	0	2	2	2	2	2	1	4	4	2	1	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:120979946C>G	ENST00000392793.1	+	4	496	c.225C>G	c.(223-225)ttC>ttG	p.F75L	TECTA_ENST00000264037.2_Missense_Mutation_p.F75L			O75443	TECTA_HUMAN	tectorin alpha	75					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGTTTCCTTCAATGTGCTAG	0.468													5	41					0	0	0	0	G	120979946	C	G	120979946	3	3	481	1	0	0	0	0	1	0	0	0	15841	825	29	2	235	2	TECTA	11	120979946	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	2062499	120979946	14026570	127	92823											
TECTA	7007	broad.mit.edu	37	chr11	120996150	120996150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagcactacgcctccatttCcgtcccaggctcctatataa	9	10	5	17	2	0	0	0	0	0	0	4	0	4	0	6	1	2	2	6	1	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:120996150C>T	ENST00000392793.1	+	8	1614	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	TECTA_ENST00000264037.2_Missense_Mutation_p.S448F			O75443	TECTA_HUMAN	tectorin alpha	448	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTCCATTTCCGTCCCAGGC	0.507													10	404					0	0	0	0	T	120996150	C	T	120996150	3	4	481	1	0	0	0	0	1	0	0	0	15841	855	30	2	1369	2	TECTA	11	120996150	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	16204	120996150	14010366	128	92824											
WNK1	65125	broad.mit.edu	37	chr12	939275	939275	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggctacatctgaataTccttactcggagtgccaaaa	13	10	9	9	1	1	2	0	1	1	1	3	4	2	3	2	2	3	1	2	2	6	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:939275T>C	ENST00000537687.1	+	4	1903	c.1260T>C	c.(1258-1260)taT>taC	p.Y420Y	WNK1_ENST00000535572.1_Silent_p.Y420Y|WNK1_ENST00000530271.2_Silent_p.Y420Y|WNK1_ENST00000315939.6_Silent_p.Y420Y|WNK1_ENST00000540360.1_3'UTR	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	420	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATCTGAATATCCTTACTCGG	0.453													5	109					0	0	0	0	C	939275	T	C	939275	2	2	481	1	0	0	0	0	0	0	0	1	17473	1442	50	5		5	WNK1	12	939275	Silent	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08		939275	132912620	129	92825											
GRIN2B	2904	broad.mit.edu	37	chr12	13716095	13716095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgtggtggtgatgtccGgcagtgggcactgaggactt	5	13	17	6	1	0	2	0	2	0	0	1	3	1	3	1	5	0	3	1	5	0	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:13716095G>A	ENST00000279593.3	-	13	4286	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1359					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGATGTCCGGCAGTGGGCA	0.587													31	35					0	0	0	0	A	13716095	G	A	13716095	2	1	481	1	0	0	0	0	0	0	0	1	6830	1103	39	1		1	GRIN2B	12	13716095	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	12776820	13716095	120135800	130	92826											
FAM186B	84070	broad.mit.edu	37	chr12	49994396	49994396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgggagggtctctctctCagagggacctggggagtcaa	7	9	15	10	0	4	1	2	0	2	1	6	4	4	4	2	5	0	0	2	5	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:49994396C>G	ENST00000544141.1	-	4	1356	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	FAM186B_ENST00000257894.2_Missense_Mutation_p.E343Q|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	343						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCTCTCTCTCAGAGGGACCT	0.542													22	191					0	0	0	0	G	49994396	C	G	49994396	3	3	481	1	0	0	0	0	1	0	0	0	5554	835	29	2	1670	2	FAM186B	12	49994396	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	36278301	49994396	83857499	131	92827											
KRT2	3849	broad.mit.edu	37	chr12	53044254	53044254	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagatgggctccaggttGatggggcgggtgccaacatt	8	9	17	7	1	0	2	0	1	0	1	1	3	1	3	2	6	2	2	2	6	2	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:53044254G>T	ENST00000309680.3	-	2	690	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	223	Linker 1.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCTCCAGGTTGATGGGGCGGG	0.507													24	210					6.36457e-07	6.78514e-07	1	0	T	53044254	G	T	53044254	2	4	481	1	0	0	0	0	0	0	0	1	8509	1280	45	2		2	KRT2	12	53044254	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	3049858	53044254	80807641	132	92828											
BAZ2A	11176	broad.mit.edu	37	chr12	56993130	56993130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggcttctgagtgaattCtccctccacctgcttagtat	8	13	7	13	0	2	2	0	2	2	0	4	2	3	2	4	1	1	3	4	1	3	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:56993130C>T	ENST00000179765.5	-	28	5294	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K	BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1729K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1701K|BAZ2A_ENST00000551812.1_Missense_Mutation_p.E1731K			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1731					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGAGTGAATTCTCCCTCCACC	0.502													5	33					0	0	0	0	T	56993130	C	T	56993130	3	4	481	1	0	0	0	0	1	0	0	0	1335	922	32	2	538	2	BAZ2A	12	56993130	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	3948876	56993130	76858765	133	92829											
ARHGAP9	64333	broad.mit.edu	37	chr12	57868256	57868256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcggaggtgaccgcaCgctctgcaacatgaatgagg	10	7	12	12	3	1	3	0	3	1	0	3	4	2	4	2	3	2	3	2	3	2	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:57868256C>T	ENST00000393797.2	-	18	2195	c.2003G>A	c.(2002-2004)cGt>cAt	p.R668H	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R597H|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R657H|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R578H|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R578H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R394H			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	597	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGTGACCGCACGCTCTGCAAC	0.517													20	42					0	0	0	0	T	57868256	C	T	57868256	3	4	481	1	0	0	0	0	1	0	0	0	891	536	19	1	478	1	ARHGAP9	12	57868256	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	875126	57868256	75983639	134	92830											
CAND1	55832	broad.mit.edu	37	chr12	67692788	67692788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaatatttgtcttaaatatCttacctatgatccaaattat	15	18	2	6	0	2	1	0	1	2	0	3	1	3	1	2	0	1	0	2	0	10	8			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:67692788C>G	ENST00000545606.1	+	7	1350	c.913C>G	c.(913-915)Ctt>Gtt	p.L305V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	305					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCTTAAATATCTTACCTATGA	0.318													4	37					0	0	0	0	G	67692788	C	G	67692788	3	3	481	1	0	0	0	0	1	0	0	0	2640	913	32	2	939	2	CAND1	12	67692788	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	9824532	67692788	66159107	135	92831											
ANKS1B	56899	broad.mit.edu	37	chr12	99640583	99640583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatccatggagcaggcctgCaaattgcccaggatcatatt	11	9	11	10	0	1	0	1	0	0	0	2	3	2	3	3	4	3	2	3	4	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:99640583C>A	ENST00000547776.2	-	13	1815	c.1816G>T	c.(1816-1818)Gca>Tca	p.A606S	ANKS1B_ENST00000547010.1_Missense_Mutation_p.A186S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A606S|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	606						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGCAGGCCTGCAAATTGCCCA	0.453													9	199					2.17888e-05	2.27279e-05	1	0	A	99640583	C	A	99640583	3	1	481	1	0	0	0	0	1	0	0	0	688	710	25	4	2274	4	ANKS1B	12	99640583	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	31947795	99640583	34211312	136	92832											
TCP11L2	255394	broad.mit.edu	37	chr12	106740092	106740092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attaagctttacatgagaagGctactttgtcttccaagccc	11	13	7	10	0	1	1	0	1	1	1	2	2	2	1	2	1	4	2	2	1	5	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:106740092G>T	ENST00000299045.3	+	10	1518	c.1344G>T	c.(1342-1344)agG>agT	p.R448S		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	448										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACATGAGAAGGCTACTTTGTC	0.383													16	46					9.16793e-09	9.86062e-09	1	0	T	106740092	G	T	106740092	3	4	481	1	0	0	0	0	1	0	0	0	15809	1194	42	4	1378	4	TCP11L2	12	106740092	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	7099509	106740092	27111803	137	92833											
RAB35	11021	broad.mit.edu	37	chr12	120541715	120541715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgttgatctccacggtccGgatcttgaaatccactccga	8	10	8	15	4	2	2	0	2	2	0	6	4	5	3	5	2	0	1	5	2	1	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:120541715G>A	ENST00000229340.5	-	3	330	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	RAB35_ENST00000534951.1_Missense_Mutation_p.R48W	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	48					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TCCACGGTCCGGATCTTGAAA	0.622													33	38					0	0	0	0	A	120541715	G	A	120541715	3	1	481	1	0	0	0	0	1	0	0	0	13007	1115	39	1	479	1	RAB35	12	120541715	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	13801623	120541715	13310180	138	92834											
KNTC1	9735	broad.mit.edu	37	chr12	123070213	123070213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacacataaagatccatatGaagagtggtcttacagtgac	15	9	10	7	0	1	4	0	2	1	2	2	5	2	5	1	2	1	0	1	2	5	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:123070213G>A	ENST00000333479.7	+	37	3742	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1189					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGATCCATATGAAGAGTGGTC	0.403													15	76					0	0	0	0	A	123070213	G	A	123070213	3	1	481	1	0	0	0	0	1	0	0	0	8480	1291	45	2	3707	2	KNTC1	12	123070213	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	2528498	123070213	10781682	139	92835											
NBEA	26960	broad.mit.edu	37	chr13	35733561	35733561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggagactttagtaggtggaGagaatggtgcccttgtggag	9	10	17	5	1	0	2	0	0	0	2	0	6	0	4	1	5	1	1	1	5	3	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:35733561G>C	ENST00000540320.1	+	22	3787	c.3253G>C	c.(3253-3255)Gag>Cag	p.E1085Q	NBEA_ENST00000400445.3_Missense_Mutation_p.E1085Q|NBEA_ENST00000310336.4_Missense_Mutation_p.E1085Q|NBEA_ENST00000379939.2_Missense_Mutation_p.E1085Q			Q8NFP9	NBEA_HUMAN	neurobeachin	1085						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTAGGTGGAGAGAATGGTGC	0.393													10	14					0	0	0	0	C	35733561	G	C	35733561	3	2	481	1	0	0	0	0	1	0	0	0	10257	943	33	2	3339	2	NBEA	13	35733561	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		35733561	79436317	140	92836											
SETDB2	83852	broad.mit.edu	37	chr13	50062507	50062507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatagatataactaaatataGagaagaaactccaccaagga	21	7	7	6	0	0	3	0	0	0	3	1	6	1	4	2	1	2	0	2	1	10	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:50062507G>C	ENST00000354234.4	+	12	2564	c.1658G>C	c.(1657-1659)aGa>aCa	p.R553T	SETDB2_ENST00000317257.8_Missense_Mutation_p.R565T	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	565	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACTAAATATAGAGAAGAAACT	0.363													24	125					0	0	0	0	C	50062507	G	C	50062507	3	2	481	1	0	0	0	0	1	0	0	0	14226	942	33	2	1740	2	SETDB2	13	50062507	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	14328946	50062507	65107371	141	92837											
PCDH20	64881	broad.mit.edu	37	chr13	61986443	61986443	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttctcttctcggtccaGctgagtagaaactgtcagaa	9	14	8	10	1	4	3	1	1	3	2	7	3	5	3	1	1	2	2	1	1	3	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:61986443G>A	ENST00000409186.1	-	5	3894	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	PCDH20_ENST00000409204.4_Silent_p.L597L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	570	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTCGGTCCAGCTGAGTAGAA	0.473													23	57					0	0	0	0	A	61986443	G	A	61986443	2	1	481	1	0	0	0	0	0	0	0	1	11586	962	34	4		4	PCDH20	13	61986443	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	11923936	61986443	53183435	142	92838											
KDELC1	79070	broad.mit.edu	37	chr13	103443722	103443722	+	Frame_Shift_Del	DEL	T	T	-																															ggatgtttgaattggatttcTttttttccaaaggccagtct																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:103443722delT	ENST00000376004.4	-	5	1067	c.731delA	c.(730-732)agfs	p.K245fs	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	245						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTGGATTTCTTTTTTTCCAA	0.418													8	983	---	---	---	---					-	103443722	T	-	103443722	7	5	481	1	0	1	0	1	0	0	0	0	8170	1609	56	0	801	0	KDELC1	13	103443722	Frame_Shift_Del	DEL	T	TCGA-RS-A6TO-01A-32D-A34J-08	41457279	103443722	11726156	143	92839											
PRMT5	10419	broad.mit.edu	37	chr14	23393710	23393710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacattggtatccttctcctCttctggtactcggtctagca	6	15	8	12	1	4	0	0	0	4	0	7	1	5	0	2	3	2	3	2	3	3	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:23393710C>G	ENST00000324366.8	-	10	1277	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	PRMT5_ENST00000397441.2_Missense_Mutation_p.E335Q|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.E308Q|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.E181Q|PRMT5_ENST00000538452.1_Missense_Mutation_p.E246Q|PRMT5_ENST00000216350.8_Missense_Mutation_p.E291Q	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	352					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCCTTCTCCTCTTCTGGTACT	0.493													11	112					0	0	0	0	G	23393710	C	G	23393710	3	3	481	1	0	0	0	0	1	0	0	0	12619	922	32	2	891	2	PRMT5	14	23393710	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08		23393710	83955830	144	92840											
TXNDC16	57544	broad.mit.edu	37	chr14	52978086	52978086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaaaaaagtagagatGtgcatattccacatcctcag	17	9	7	8	0	1	2	1	1	0	1	3	3	3	2	2	0	1	2	2	0	6	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:52978086G>A	ENST00000281741.4	-	9	999	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	210					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AAGTAGAGATGTGCATATTCC	0.343													19	99					0	0	0	0	A	52978086	G	A	52978086	3	1	481	1	0	0	0	0	1	0	0	0	16891	1377	48	4	1901	4	TXNDC16	14	52978086	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	29584376	52978086	54371454	145	92841											
GALC	2581	broad.mit.edu	37	chr14	88429779	88429779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccatcagtcagagctacGtagcttcctcctttctctaa	10	12	6	13	1	3	1	2	0	1	1	6	1	5	1	3	0	4	3	3	0	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:88429779G>A	ENST00000261304.2	-	10	1216	c.1110C>T	c.(1108-1110)taC>taT	p.Y370Y	GALC_ENST00000544807.2_Silent_p.Y314Y|GALC_ENST00000393568.4_Silent_p.Y347Y|GALC_ENST00000393569.2_Silent_p.Y344Y	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	370					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGAGCTACGTAGCTTCCTC	0.403													32	61					0	0	0	0	A	88429779	G	A	88429779	2	1	481	1	0	0	0	0	0	0	0	1	6250	1140	40	1		1	GALC	14	88429779	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	35451693	88429779	18919761	146	92842											
BAG5	9529	broad.mit.edu	37	chr14	104026872	104026872	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagtgcctgcaggtctcAttgttgttcacacccatcag	9	12	9	11	0	3	0	3	0	1	0	4	1	3	0	2	1	2	3	2	1	1	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:104026872A>C	ENST00000445922.2	-	2	876	c.630T>G	c.(628-630)aaT>aaG	p.N210K	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.N251K|BAG5_ENST00000299204.4_Missense_Mutation_p.N210K	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	210	BAG 3.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TGCAGGTCTCATTGTTGTTCA	0.527													36	94					0	0	0	0	C	104026872	A	C	104026872	3	2	481	1	0	0	0	0	1	0	0	0	1294	214	8	5	717	5	BAG5	14	104026872	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	15597093	104026872	3322668	147	92843											
AHNAK2	113146	broad.mit.edu	37	chr14	105420866	105420866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccttctgctcttggcGctccaccgtgagctgggcct	2	11	11	17	2	2	1	0	1	2	0	3	1	3	1	5	2	3	3	5	2	0	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:105420866G>A	ENST00000333244.5	-	7	1041	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	308						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCTCTTGGCGCTCCACCGTG	0.622													10	17					0	0	0	0	A	105420866	G	A	105420866	3	1	481	1	0	0	0	0	1	0	0	0	415	1087	38	1	16469	1	AHNAK2	14	105420866	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1393994	105420866	1928674	148	92844											
PACS2	23241	broad.mit.edu	37	chr14	105848855	105848855	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccagctcaaccacatcctCatctccgatgaccagcttcc	10	8	5	18	1	3	1	2	1	1	0	6	3	5	1	6	0	3	2	6	0	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:105848855C>G	ENST00000447393.1	+	14	1630	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	PACS2_ENST00000458164.2_Silent_p.L485L|PACS2_ENST00000325438.8_Silent_p.L481L|PACS2_ENST00000547217.1_Silent_p.L451L|PACS2_ENST00000430725.2_Silent_p.L406L	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	481					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACCACATCCTCATCTCCGATG	0.587													42	221					0	0	0	0	G	105848855	C	G	105848855	2	3	481	1	0	0	0	0	0	0	0	1	11444	813	29	2		2	PACS2	14	105848855	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	427989	105848855	1500685	149	92845											
DUOXA2	405753	broad.mit.edu	37	chr15	45410062	45410062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcgacccactgcacaaGcaggccgctctcccagactt	8	6	9	18	3	1	1	0	0	1	1	3	2	1	1	3	2	2	3	3	2	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:45410062G>A	ENST00000323030.5	+	6	1203	c.918G>A	c.(916-918)aaG>aaA	p.K306K	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000267803.4_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	306					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CACTGCACAAGCAGGCCGCTC	0.612											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	83					0	0	0	0	A	45410062	G	A	45410062	2	1	481	1	0	0	0	0	0	0	0	1	4839	962	34	4		4	DUOXA2	15	45410062	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		45410062	57121330	150	92846											
AP4E1	23431	broad.mit.edu	37	chr15	51294782	51294782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcagatgtattagccCtgtggttcagatcctcctgt	7	15	9	10	0	2	2	2	0	0	2	4	2	4	2	3	1	2	3	3	1	2	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:51294782C>G	ENST00000261842.5	+	21	3443	c.3337C>G	c.(3337-3339)Ctg>Gtg	p.L1113V	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.L1038V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1113					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTATTAGCCCTGTGGTTCAG	0.458													35	120					0	0	0	0	G	51294782	C	G	51294782	3	3	481	1	0	0	0	0	1	0	0	0	753	680	24	4	3419	4	AP4E1	15	51294782	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	5884720	51294782	51236610	151	92847											
MYO5A	4644	broad.mit.edu	37	chr15	52659265	52659265	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgcacgatgcggtgattGagggcttctttttcttgctt	4	17	12	8	2	2	2	0	2	2	0	2	3	2	2	0	2	4	4	0	2	0	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:52659265G>C	ENST00000399231.3	-	23	3366	c.3123C>G	c.(3121-3123)ctC>ctG	p.L1041L	MYO5A_ENST00000356338.6_Silent_p.L1041L|MYO5A_ENST00000358212.6_Silent_p.L1041L|MYO5A_ENST00000399233.2_Silent_p.L1041L|MYO5A_ENST00000553916.1_Silent_p.L1041L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1041					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCGGTGATTGAGGGCTTCTT	0.418													14	56					0	0	0	0	C	52659265	G	C	52659265	2	2	481	1	0	0	0	0	0	0	0	1	10148	1277	45	2		2	MYO5A	15	52659265	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1364483	52659265	49872127	152	92848											
UBL7	84993	broad.mit.edu	37	chr15	74741683	74741683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtactgctagagggtgtGgacctggtgttctggagaaa	9	10	17	5	0	1	2	0	0	1	2	1	5	1	4	1	5	2	3	1	5	3	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:74741683G>A	ENST00000567435.1	-	9	1189	c.726C>T	c.(724-726)tcC>tcT	p.S242S	UBL7_ENST00000361351.4_Silent_p.S242S|UBL7_ENST00000565335.1_Silent_p.S242S|UBL7_ENST00000395081.2_Silent_p.S242S|UBL7_ENST00000564488.1_Silent_p.S242S			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	242							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TAGAGGGTGTGGACCTGGTGT	0.597													5	27					0	0	0	0	A	74741683	G	A	74741683	2	1	481	1	0	0	0	0	0	0	0	1	16986	1335	47	4		4	UBL7	15	74741683	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	22082418	74741683	27789709	153	92849											
HBM	3042	broad.mit.edu	37	chr16	216068	216068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggccacgaggcgcaattCggggcggagctgctgctcag	6	5	18	12	5	1	0	1	0	0	0	2	2	1	1	1	5	3	4	1	5	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:216068C>T	ENST00000356815.3	+	1	92	c.72C>T	c.(70-72)ttC>ttT	p.F24F	HBM_ENST00000472539.1_Intron	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN	hemoglobin, mu	24						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AGGCGCAATTCGGGGCGGAGC	0.701													9	13					0	0	0	0	T	216068	C	T	216068	2	4	481	1	0	0	0	0	0	0	0	1	7034	883	31	1		1	HBM	16	216068	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08		216068	90138685	154	92850											
AXIN1	8312	broad.mit.edu	37	chr16	347826	347826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggccccaggcgaagctGctctgggccctgcgggtggc	4	6	16	15	2	1	0	0	0	1	0	2	1	2	0	4	5	3	2	4	5	1	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:347826G>A	ENST00000262320.3	-	6	2051	c.1680C>T	c.(1678-1680)agC>agT	p.S560S	AXIN1_ENST00000354866.3_Silent_p.S560S	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	560	Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGGCGAAGCTGCTCTGGGCCC	0.701													6	25					0	0	0	0	A	347826	G	A	347826	2	1	481	1	0	0	0	0	0	0	0	1	1240	1310	46	4		4	AXIN1	16	347826	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	131758	347826	90006927	155	92851											
CREBBP	1387	broad.mit.edu	37	chr16	3779447	3779447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgttcatggtggccatccgCcggcgcatgagctgggcctg	4	9	16	12	3	1	1	1	1	0	0	2	1	2	1	4	4	1	3	4	4	0	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:3779447C>T	ENST00000262367.5	-	31	6410	c.5601G>A	c.(5599-5601)cgG>cgA	p.R1867R	CREBBP_ENST00000382070.3_Silent_p.R1829R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1867	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGCCATCCGCCGGCGCATGA	0.637			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						13	71					0	0	0	0	T	3779447	C	T	3779447	2	4	481	1	0	0	0	0	0	0	0	1	3891	726	26	4		4	CREBBP	16	3779447	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	3431621	3779447	86575306	156	92852											
CREBBP	1387	broad.mit.edu	37	chr16	3900963	3900963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattctcctccattgggtaTcagctcatcaggaagatcat	11	13	7	10	0	5	1	4	0	1	1	7	2	6	2	2	2	1	2	2	2	3	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:3900963T>C	ENST00000262367.5	-	2	942	c.133A>G	c.(133-135)Ata>Gta	p.I45V	CREBBP_ENST00000382070.3_Missense_Mutation_p.I45V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	45					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCATTGGGTATCAGCTCATCA	0.408			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						17	93					0	0	0	0	C	3900963	T	C	3900963	3	2	481	1	0	0	0	0	1	0	0	0	3891	1435	50	5	7315	5	CREBBP	16	3900963	Missense_Mutation	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	121516	3900963	86453790	157	92853											
ZC3H7A	29066	broad.mit.edu	37	chr16	11868313	11868313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcacttccaacttcatGagaaaaactgggtgccggta	12	9	9	11	1	2	1	2	1	0	1	3	2	3	1	2	2	4	2	2	2	4	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:11868313G>A	ENST00000396516.2	-	8	879	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H228Y			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	228						nucleus	nucleic acid binding|zinc ion binding	p.H228Y(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CCAACTTCATGAGAAAAACTG	0.458													16	79					0	0	0	0	A	11868313	G	A	11868313	3	1	481	1	0	0	0	0	1	0	0	0	17667	1290	45	2	2293	2	ZC3H7A	16	11868313	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	7967350	11868313	78486440	158	92854											
SMG1	23049	broad.mit.edu	37	chr16	18866198	18866198	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttagacctaattccatGagatggcttctaattgggac	10	13	10	8	0	1	2	0	1	1	2	2	4	2	3	2	2	0	3	2	2	3	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:18866198G>T	ENST00000446231.2	-	30	4675	c.4263C>A	c.(4261-4263)ctC>ctA	p.L1421L	SMG1_ENST00000389467.3_Silent_p.L1421L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1421	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAATTCCATGAGATGGCTTC	0.418													13	101					0.000151284	0.000157128	1	0	T	18866198	G	T	18866198	2	4	481	1	0	0	0	0	0	0	0	1	14883	1277	45	2		2	SMG1	16	18866198	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	6997885	18866198	71488555	159	92855											
ITGAM	3684	broad.mit.edu	37	chr16	31282333	31282333	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatggctctggtagcatcatCccacatgactttcggcggat	8	11	11	11	2	2	1	1	1	1	0	4	3	3	2	1	4	1	3	1	4	1	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:31282333C>T	ENST00000544665.3	+	6	557	c.486C>T	c.(484-486)atC>atT	p.I162I	ITGAM_ENST00000287497.8_Silent_p.I162I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	162	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTAGCATCATCCCACATGACT	0.468													30	189					0	0	0	0	T	31282333	C	T	31282333	2	4	481	1	0	0	0	0	0	0	0	1	7940	845	30	2		2	ITGAM	16	31282333	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	12416135	31282333	59072420	160	92856											
NLRC5	84166	broad.mit.edu	37	chr16	57104531	57104531	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatgctaaagaggctggaGtaagtagtgatggtggttgt	10	12	17	2	0	0	2	0	1	0	1	0	4	0	4	0	5	1	5	0	5	4	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:57104531G>A	ENST00000436936.1	+	38	4956		c.e38+1		NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGAGGCTGGAGTAAGTAGTGA	0.532													33	42					0	0	0	0	A	57104531	G	A	57104531	5	1	481	1	0	0	0	0	0	0	1	0	10540	1043	36	4	4810	4	NLRC5	16	57104531	Splice_Site	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	25822198	57104531	33250222	161	92857											
RSPRY1	89970	broad.mit.edu	37	chr16	57238645	57238645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgttgactctcgaagaGcacatagcccacttcctagg	9	11	9	12	1	1	2	0	1	1	1	3	3	2	2	2	1	2	3	2	1	3	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:57238645G>T	ENST00000537866.1	+	2	948	c.75G>T	c.(73-75)gaG>gaT	p.E25D	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E25D			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	25						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTCTCGAAGAGCACATAGCCC	0.502													11	166					0.000308642	0.000315153	1	0	T	57238645	G	T	57238645	3	4	481	1	0	0	0	0	1	0	0	0	13798	962	34	4	77	4	RSPRY1	16	57238645	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	134114	57238645	33116108	162	92858											
WWP2	11060	broad.mit.edu	37	chr16	69833085	69833085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttttcaggaatgtcaCggcacagagtcatttagatt	10	16	9	6	1	3	2	3	0	0	2	3	3	3	3	0	2	0	2	0	2	2	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:69833085C>T	ENST00000359154.2	+	4	328	c.227C>T	c.(226-228)aCg>aTg	p.T76M	WWP2_ENST00000569174.1_Missense_Mutation_p.T76M|WWP2_ENST00000448661.1_Missense_Mutation_p.T76M|WWP2_ENST00000356003.2_Missense_Mutation_p.T76M|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	76	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAATGTCACGGCACAGAGT	0.408											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	101					0	0	0	0	T	69833085	C	T	69833085	3	4	481	1	0	0	0	0	1	0	0	0	17512	536	19	1	237	1	WWP2	16	69833085	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	12594440	69833085	20521668	163	92859											
RPA1	6117	broad.mit.edu	37	chr17	1792040	1792040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatgtaccaagcctgcccGactcaggactgcaataagaa	13	7	9	12	1	1	1	1	0	0	1	1	3	1	2	3	1	5	3	3	1	5	2	rs145553070	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:1792040G>A	ENST00000254719.5	+	14	1556	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	482					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AAGCCTGCCCGACTCAGGACT	0.483								Nucleotide excision repair (NER)					14	87					0	0	0	0	A	1792040	G	A	1792040	2	1	481	1	0	0	0	0	0	0	0	1	13621	1045	37	1		1	RPA1	17	1792040	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		1792040	79403170	164	92860											
FBXO39	162517	broad.mit.edu	37	chr17	6684174	6684174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcaatgagacccactctGatagatctcctgcccacctt	9	12	6	14	0	3	3	1	2	2	2	4	4	3	3	4	0	1	1	4	0	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:6684174G>A	ENST00000321535.4	+	2	1117	c.987G>A	c.(985-987)ctG>ctA	p.L329L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	329										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCACTCTGATAGATCTCC	0.542													12	55					0	0	0	0	A	6684174	G	A	6684174	2	1	481	1	0	0	0	0	0	0	0	1	5792	1277	45	2		2	FBXO39	17	6684174	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	4892134	6684174	74511036	165	92861											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			9	34					0	0	0	0	A	7577094	G	A	7577094	3	1	481	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	892920	7577094	73618116	166	92862											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccactcggataagatgctGaggaggggccagacctaaga	12	7	13	9	1	0	4	0	1	0	3	2	6	1	6	3	4	1	1	3	4	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557		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)			18	35					0	0	0	0	A	7578275	G	A	7578275	4	1	481	1	0	0	0	0	0	1	0	0	16476	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1181	7578275	73616935	167	92863											
MYH10	4628	broad.mit.edu	37	chr17	8526300	8526300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcatgtcaattctgccatatCctccaccttggaaaacttag	11	12	6	12	0	2	0	1	0	1	0	4	1	4	1	4	1	2	1	4	1	5	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:8526300C>T	ENST00000360416.3	-	2	403	c.265G>A	c.(265-267)Gat>Aat	p.D89N	MYH10_ENST00000269243.4_Missense_Mutation_p.D89N|MYH10_ENST00000396239.1_Missense_Mutation_p.D89N|MYH10_ENST00000379980.4_Missense_Mutation_p.D89N	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	89	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTGCCATATCCTCCACCTTG	0.378													43	158					0	0	0	0	T	8526300	C	T	8526300	3	4	481	1	0	0	0	0	1	0	0	0	10100	855	30	2	5825	2	MYH10	17	8526300	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	948025	8526300	72668910	168	92864											
DNAH9	1770	broad.mit.edu	37	chr17	11845708	11845708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtggaggagcgcacccCttacattgtagttgccttcc	9	10	10	12	1	0	0	0	0	0	0	1	2	1	2	4	2	3	3	4	2	3	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:11845708C>T	ENST00000262442.3	+	67	12817	c.12749C>T	c.(12748-12750)cCt>cTt	p.P4250L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P4174L|DNAH9_ENST00000396001.2_Missense_Mutation_p.P562L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4250					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGCGCACCCCTTACATTGTA	0.537													19	80					0	0	0	0	T	11845708	C	T	11845708	3	4	481	1	0	0	0	0	1	0	0	0	4644	681	24	4	13015	4	DNAH9	17	11845708	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	3319408	11845708	69349502	169	92865											
STAT5A	6776	broad.mit.edu	37	chr17	40453383	40453383	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctggtgggcgggaagctGaacgtgcacatgaatccccc	8	7	14	12	2	0	2	0	2	0	0	1	3	1	3	2	3	4	3	2	3	3	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:40453383G>A	ENST00000345506.4	+	10	1722	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L	STAT5A_ENST00000590949.1_Silent_p.L360L|STAT5A_ENST00000452307.2_Silent_p.L360L|STAT5A_ENST00000588868.1_Silent_p.L360L|STAT5A_ENST00000546010.2_Silent_p.L330L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	360					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCGGGAAGCTGAACGTGCACA	0.552													14	133					0	0	0	0	A	40453383	G	A	40453383	2	1	481	1	0	0	0	0	0	0	0	1	15358	1277	45	2		2	STAT5A	17	40453383	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	28607675	40453383	40741827	170	92866											
STAT5A	6776	broad.mit.edu	37	chr17	40453429	40453429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaggccaccatcatcagtGagcagcaggccaagtctctg	11	7	11	12	0	3	2	2	2	1	0	4	2	3	2	3	2	2	2	3	2	2	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:40453429G>A	ENST00000345506.4	+	10	1768	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	STAT5A_ENST00000590949.1_Missense_Mutation_p.E376K|STAT5A_ENST00000452307.2_Missense_Mutation_p.E376K|STAT5A_ENST00000588868.1_Missense_Mutation_p.E376K|STAT5A_ENST00000546010.2_Missense_Mutation_p.E346K	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	376					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CATCATCAGTGAGCAGCAGGC	0.587													16	99					0	0	0	0	A	40453429	G	A	40453429	3	1	481	1	0	0	0	0	1	0	0	0	15358	1291	45	2	1156	2	STAT5A	17	40453429	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	46	40453429	40741781	171	92867											
PPY	5539	broad.mit.edu	37	chr17	42019013	42019013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggagaggcagaggcgtgCggcagccatctgaggagcaa	11	3	18	9	2	1	3	0	1	1	2	1	5	1	4	1	5	3	3	1	5	1	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:42019013C>T	ENST00000591228.1	-	2	97	c.10G>A	c.(10-12)Gca>Aca	p.A4T	PPY_ENST00000587006.1_Missense_Mutation_p.A4T|PPY_ENST00000225992.3_Missense_Mutation_p.A4T			P01298	PAHO_HUMAN	pancreatic polypeptide	4					digestion|protein secretion	extracellular region	hormone activity			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAGAGGCGTGCGGCAGCCATC	0.657													5	25					0	0	0	0	T	42019013	C	T	42019013	3	4	481	1	0	0	0	0	1	0	0	0	12491	768	27	1	289	1	PPY	17	42019013	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	1565584	42019013	39176197	172	92868											
UBTF	7343	broad.mit.edu	37	chr17	42293957	42293957	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagaaaagtctttaaatgcTactttttcccagtccatgtg	11	14	6	10	0	1	1	0	0	1	1	3	1	3	1	3	0	2	1	3	0	5	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:42293957T>C	ENST00000302904.4	-	3	666	c.174A>G	c.(172-174)gtA>gtG	p.V58V	UBTF_ENST00000527034.1_Silent_p.V58V|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000436088.1_Silent_p.V58V|UBTF_ENST00000533177.1_Silent_p.V58V|UBTF_ENST00000393606.3_Silent_p.V58V|UBTF_ENST00000343638.5_Silent_p.V58V|UBTF_ENST00000529383.1_Silent_p.V58V|UBTF_ENST00000526094.1_Silent_p.V58V			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	58					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTTAAATGCTACTTTTTCCC	0.438													135	222					0	0	0	0	C	42293957	T	C	42293957	2	2	481	1	0	0	0	0	0	0	0	1	17005	1509	53	5		5	UBTF	17	42293957	Silent	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	274944	42293957	38901253	173	92869											
GPATCH8	23131	broad.mit.edu	37	chr17	42477204	42477204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcatcttgagctctccgCcttcttcttggtggtgcggg	3	14	13	11	2	5	1	1	1	4	0	6	2	5	1	2	3	2	1	2	3	0	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:42477204C>T	ENST00000434000.1	-	9	2289	c.2007G>A	c.(2005-2007)agG>agA	p.R669R	GPATCH8_ENST00000591680.1_Silent_p.R747R			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	747	Lys-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAGCTCTCCGCCTTCTTCTTG	0.567													10	112					0	0	0	0	T	42477204	C	T	42477204	2	4	481	1	0	0	0	0	0	0	0	1	6643	738	26	4		4	GPATCH8	17	42477204	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	183247	42477204	38718006	174	92870											
EPN3	55040	broad.mit.edu	37	chr17	48619236	48619236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtcccccaccaacccgttCggcgcgggcgagccgggcag	5	3	14	19	7	0	0	0	0	0	0	2	1	1	0	6	3	2	2	6	3	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:48619236C>T	ENST00000268933.3	+	10	2196	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Silent_p.F567F	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	539	3 X 3 AA repeats of N-P-F.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCAACCCGTTCGGCGCGGGCG	0.716													5	43					0	0	0	0	T	48619236	C	T	48619236	2	4	481	1	0	0	0	0	0	0	0	1	5225	883	31	1		1	EPN3	17	48619236	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	6142032	48619236	32575974	175	92871											
CACNG4	27092	broad.mit.edu	37	chr17	65026756	65026756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggctgtaaacatttacaTtgagaaaaataaagagttga	17	11	8	5	0	0	3	0	2	0	2	0	4	0	3	1	1	2	3	1	1	7	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:65026756T>C	ENST00000262138.3	+	4	622	c.620T>C	c.(619-621)aTt>aCt	p.I207T		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	207					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AACATTTACATTGAGAAAAAT	0.458													45	103					0	0	0	0	C	65026756	T	C	65026756	3	2	481	1	0	0	0	0	1	0	0	0	2584	1493	52	5	634	5	CACNG4	17	65026756	Missense_Mutation	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	16407520	65026756	16168454	176	92872											
SEC14L1	6397	broad.mit.edu	37	chr17	75201375	75201375	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggttctctccataaatgaAgaagggctaaggcgatgcga	13	9	12	7	2	1	2	0	1	1	1	3	4	2	2	1	3	1	2	1	3	6	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:75201375A>C	ENST00000413679.2	+	11	1419	c.1116A>C	c.(1114-1116)gaA>gaC	p.E372D	SEC14L1_ENST00000431431.2_Missense_Mutation_p.E338D|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E372D|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E372D|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E338D	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	372	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCATAAATGAAGAAGGGCTAA	0.403													11	74					0	0	0	0	C	75201375	A	C	75201375	3	2	481	1	0	0	0	0	1	0	0	0	14068	69	3	5	1150	5	SEC14L1	17	75201375	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	10174619	75201375	5993835	177	92873											
USP36	57602	broad.mit.edu	37	chr17	76798577	76798577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctttttccttggagactCttccatggcctctggatcac	5	17	7	12	0	4	1	1	0	3	1	6	3	6	2	3	3	0	0	3	3	0	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:76798577C>T	ENST00000312010.6	-	17	3175	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K	USP36_ENST00000449938.2_Missense_Mutation_p.E556K|USP36_ENST00000542802.2_Missense_Mutation_p.E951K	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	951					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTTGGAGACTCTTCCATGGCC	0.532													10	39					0	0	0	0	T	76798577	C	T	76798577	3	4	481	1	0	0	0	0	1	0	0	0	17163	922	32	2	536	2	USP36	17	76798577	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	1597202	76798577	4396633	178	92874											
BAIAP2	10458	broad.mit.edu	37	chr17	79078365	79078365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggcagccggcctggagcGcaatggccgtatgcgggtga	7	6	17	11	4	0	1	0	1	0	0	0	2	0	2	3	5	3	3	3	5	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:79078365G>A	ENST00000321300.6	+	10	1211	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	BAIAP2_ENST00000321280.7_Missense_Mutation_p.R373H|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R406H|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R373H|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R236H|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R373H|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R373H|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R295H	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	373					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			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)			GGCCTGGAGCGCAATGGCCGT	0.642													4	97					0	0	0	0	A	79078365	G	A	79078365	3	1	481	1	0	0	0	0	1	0	0	0	1305	1087	38	1	1156	1	BAIAP2	17	79078365	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	2279788	79078365	2116845	179	92875											
SMCHD1	23347	broad.mit.edu	37	chr18	2688459	2688459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtgatatttcctattttGgtgttgggggcaagcaagct	9	15	12	5	0	0	1	0	1	0	0	1	1	1	1	1	3	2	4	1	3	5	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr18:2688459G>T	ENST00000320876.6	+	6	1044	c.706G>T	c.(706-708)Ggt>Tgt	p.G236C	SMCHD1_ENST00000261598.8_Missense_Mutation_p.G236C	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	236					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCCTATTTTGGTGTTGGGGG	0.338													14	142					2.23348e-06	2.36028e-06	1	0	T	2688459	G	T	2688459	3	4	481	1	0	0	0	0	1	0	0	0	14876	1348	47	4	728	4	SMCHD1	18	2688459	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		2688459	75388789	180	92876											
KCTD1	284252	broad.mit.edu	37	chr18	24128325	24128327	+	In_Frame_Del	DEL	TCC	TCC	-																															tctcgtcctcctcctcctctTcctcctcctcctcgcccgcg																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr18:24128325_24128327delTCC	ENST00000417602.1	-	1	173_175	c.174_176delGGA	c.(172-177)gaa>ga	p.EE62del	KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.724													2	4	---	---	---	---					-	24128327	TCC	-	24128325	7	5	481	1	0	1	0	1	0	0	0	0	8149	1783	62	0	2441	0	KCTD1	18	24128325	In_Frame_Del	DEL	TCC	TCGA-RS-A6TO-01A-32D-A34J-08	21439866	24128325	53948923	181	92877											
MUC16	94025	broad.mit.edu	37	chr19	9058944	9058944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtggtggctttagaagcgGccagactctcatctgaggtg	7	10	14	10	2	2	3	1	1	2	2	3	3	2	3	2	4	1	1	2	4	2	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:9058944G>T	ENST00000397910.4	-	3	28705	c.28502C>A	c.(28501-28503)gCc>gAc	p.A9501D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9503	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTAGAAGCGGCCAGACTCTC	0.478													30	153					1.7881e-09	1.94919e-09	1	0	T	9058944	G	T	9058944	3	4	481	1	0	0	0	0	1	0	0	0	10043	1203	42	4	15349	4	MUC16	19	9058944	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		9058944	50070039	182	92878											
ATG4D	84971	broad.mit.edu	37	chr19	10657529	10657529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccagactggacatgggccGagggcatgggcctgggcccc	7	4	16	14	1	0	1	0	0	0	1	0	3	0	2	5	5	0	1	5	5	0	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:10657529G>A	ENST00000309469.4	+	4	681	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	170					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.E170K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GACATGGGCCGAGGGCATGGG	0.647													34	41					0	0	0	0	A	10657529	G	A	10657529	3	1	481	1	0	0	0	0	1	0	0	0	1103	1059	37	1	522	1	ATG4D	19	10657529	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	1598585	10657529	48471454	183	92879											
ZNF585B	92285	broad.mit.edu	37	chr19	37677976	37677976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacatacatagagtttttCtcctgtaggaactttcagat	13	15	6	7	0	2	2	1	0	1	2	3	3	2	3	1	1	3	2	1	1	6	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:37677976C>G	ENST00000532828.2	-	5	714	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E100Q|ZNF585B_ENST00000527838.1_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGAGTTTTTCTCCTGTAGGA	0.393													18	512					0	0	0	0	G	37677976	C	G	37677976	3	3	481	1	0	0	0	0	1	0	0	0	18113	922	32	2	1850	2	ZNF585B	19	37677976	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	27020447	37677976	21451007	184	92880											
NKPD1	284353	broad.mit.edu	37	chr19	45655798	45655798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgcagcaggcgcaCggtgatgggcacggtgttga	6	8	17	10	3	0	2	0	2	0	0	0	2	0	2	0	4	4	7	0	4	0	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:45655798C>T	ENST00000317951.4	-	4	1896	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	NKPD1_ENST00000589776.1_Missense_Mutation_p.V411M|NKPD1_ENST00000438936.2_Missense_Mutation_p.V411M|NKPD1_ENST00000429338.1_Missense_Mutation_p.V411M	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGCAGGCGCACGGTGATGGGC	0.697													3	30					0	0	0	0	T	45655798	C	T	45655798	3	4	481	1	0	0	0	0	1	0	0	0	10516	536	19	1	605	1	NKPD1	19	45655798	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	7977822	45655798	13473185	185	92881											
ZNF665	79788	broad.mit.edu	37	chr19	53669307	53669307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttcagggagatgtgactGaaagcttactccaagctgat	12	10	11	8	0	1	4	1	3	0	1	2	5	2	4	1	1	3	3	1	1	3	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:53669307G>C	ENST00000600412.1	-	2	356	c.241C>G	c.(241-243)Cag>Gag	p.Q81E	ZNF665_ENST00000396424.3_Missense_Mutation_p.Q146E			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGATGTGACTGAAAGCTTACT	0.378													28	160					0	0	0	0	C	53669307	G	C	53669307	3	2	481	1	0	0	0	0	1	0	0	0	18168	1299	45	2	1604	2	ZNF665	19	53669307	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	8013509	53669307	5459676	186	92882											
MCM8	84515	broad.mit.edu	37	chr20	5948594	5948594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtgtaagcatggaatgttGatggagttctcacttaaaga	12	12	13	4	0	1	2	1	1	1	1	2	4	1	4	0	3	1	4	0	3	4	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:5948594G>C	ENST00000378896.3	+	10	1523	c.1146G>C	c.(1144-1146)ttG>ttC	p.L382F	MCM8_ENST00000378883.1_Missense_Mutation_p.L382F|MCM8_ENST00000378886.2_Missense_Mutation_p.L382F|MCM8_ENST00000265187.4_Missense_Mutation_p.L366F	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	382					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATGGAATGTTGATGGAGTTCT	0.348													16	128					0	0	0	0	C	5948594	G	C	5948594	3	2	481	1	0	0	0	0	1	0	0	0	9462	1281	45	2	1180	2	MCM8	20	5948594	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		5948594	57076926	187	92883											
ESF1	51575	broad.mit.edu	37	chr20	13747568	13747568	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtctcatcccaagtgatttCcacctttcaccaacaaataa	14	11	3	13	0	2	1	2	1	1	0	5	1	4	1	4	0	1	0	4	0	4	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:13747568C>A	ENST00000202816.1	-	8	1629	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CAAGTGATTTCCACCTTTCAC	0.338													33	83					1.62565e-12	1.80462e-12	1	0	A	13747568	C	A	13747568	4	1	481	1	0	0	0	0	0	1	0	0	5289	864	30	2	1061	2	ESF1	20	13747568	Nonsense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	7798974	13747568	49277952	188	92884											
SEL1L2	80343	broad.mit.edu	37	chr20	13912405	13912405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataaatattgtttgatttCgttcactgatacctacaaag	13	16	6	6	1	1	3	1	3	0	0	2	3	1	3	1	0	2	2	1	0	6	8			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:13912405C>T	ENST00000284951.5	-	3	201	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.E43K			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	43						integral to membrane	binding	p.E43K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGTTTGATTTCGTTCACTGAT	0.289													5	140					0	0	0	0	T	13912405	C	T	13912405	3	4	481	1	0	0	0	0	1	0	0	0	14098	893	31	1	2011	1	SEL1L2	20	13912405	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	164837	13912405	49113115	189	92885											
KIF3B	9371	broad.mit.edu	37	chr20	30898675	30898675	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaagagattgctcggctCaaggcccagctggaaaaacg	13	5	13	10	2	1	1	1	0	0	1	2	4	1	3	1	4	3	3	1	4	4	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:30898675C>G	ENST00000375712.3	+	2	1262	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L	KIF3B_ENST00000418717.2_Silent_p.L53L	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	365					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGCTCGGCTCAAGGCCCAGC	0.557													5	53					0	0	0	0	G	30898675	C	G	30898675	2	3	481	1	0	0	0	0	0	0	0	1	8352	813	29	2		2	KIF3B	20	30898675	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	16986270	30898675	32126845	190	92886											
OPRL1	4987	broad.mit.edu	37	chr20	62729328	62729328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgactactacaacatgttcaCcagcaccttcaccctaactg	12	10	4	15	0	2	1	2	1	0	0	2	1	2	1	3	0	5	2	3	0	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:62729328C>T	ENST00000349451.3	+	5	819	c.407C>T	c.(406-408)aCc>aTc	p.T136I	OPRL1_ENST00000336866.2_Missense_Mutation_p.T136I|OPRL1_ENST00000355631.4_Missense_Mutation_p.T136I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	136					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AACATGTTCACCAGCACCTTC	0.582													5	138					0	0	0	0	T	62729328	C	T	62729328	3	4	481	1	0	0	0	0	1	0	0	0	10957	507	18	4	413	4	OPRL1	20	62729328	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	31830653	62729328	296192	191	92887											
MCM3AP	8888	broad.mit.edu	37	chr21	47660846	47660846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcccctcttgagcacactCtgtgctcctcttccagttac	5	13	5	18	0	3	1	0	1	3	0	6	1	6	1	5	0	3	3	5	0	1	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr21:47660846C>T	ENST00000397708.1	-	27	5766	c.5512G>A	c.(5512-5514)Gag>Aag	p.E1838K	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1838K|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1838					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAGCACACTCTGTGCTCCTC	0.493													21	98					0	0	0	0	T	47660846	C	T	47660846	3	4	481	1	0	0	0	0	1	0	0	0	9457	922	32	2	442	2	MCM3AP	21	47660846	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08		47660846	469049	192	92888											
YDJC	150223	broad.mit.edu	37	chr22	21984245	21984245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccacgataccctcatcgcgtCgcgggcagtaaccaaagtcg	10	6	10	15	6	1	0	1	0	0	0	4	1	1	0	3	1	2	2	3	1	3	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr22:21984245C>G	ENST00000292778.6	-	1	108	c.59G>C	c.(58-60)cGa>cCa	p.R20P	YDJC_ENST00000398873.3_Missense_Mutation_p.R20P	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	20					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					CTCATCGCGTCGCGGGCAGTA	0.716													6	21					0	0	0	0	G	21984245	C	G	21984245	3	3	481	1	0	0	0	0	1	0	0	0	17567	884	31	3	932	3	YDJC	22	21984245	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08		21984245	29320321	193	92889											
MTMR3	8897	broad.mit.edu	37	chr22	30405007	30405007	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattgttactctctccagAgtattacccaaactgtgaag	11	15	6	9	0	1	2	0	1	1	1	3	2	2	2	2	0	3	2	2	0	6	6			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr22:30405007A>G	ENST00000333027.3	+	12	1338	c.1009_splice	c.e12-1	p.E337_splice	MTMR3_ENST00000351488.3_Splice_Site_p.E337_splice|MTMR3_ENST00000323630.5_Splice_Site_p.E201_splice|MTMR3_ENST00000406629.1_Splice_Site_p.E337_splice|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Splice_Site_p.E337_splice	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	337	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCTCTCCAGAGTATTACCCA	0.418													16	83					0	0	0	0	G	30405007	A	G	30405007	5	3	481	1	0	0	0	0	0	0	1	0	10015	318	11	5	1048	5	MTMR3	22	30405007	Splice_Site	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	8420762	30405007	20899559	194	92890											
SLC5A4	6527	broad.mit.edu	37	chr22	32651253	32651253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcagcatttcggatgtGgtcagacaatggaggtggct	9	10	15	7	1	2	1	2	0	0	1	3	3	2	3	0	5	2	3	0	5	1	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr22:32651253G>C	ENST00000266086.4	-	1	75	c.64C>G	c.(64-66)Cac>Gac	p.H22D	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	22					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTCGGATGTGGTCAGACAAT	0.542											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	44	183					0	0	0	0	C	32651253	G	C	32651253	3	2	481	1	0	0	0	0	1	0	0	0	14755	1348	47	4	1975	4	SLC5A4	22	32651253	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	2246246	32651253	18653313	195	92891											
TLR8	51311	broad.mit.edu	37	chrX	12939373	12939373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctgaagtcagtagtctGaagcacctcgatttaagttc	10	14	8	9	1	3	2	1	2	2	0	5	3	3	2	1	0	1	3	1	0	4	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:12939373G>A	ENST00000218032.6	+	2	2301	c.2214G>A	c.(2212-2214)ctG>ctA	p.L738L	TLR8_ENST00000311912.5_Silent_p.L756L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	738					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAGTAGTCTGAAGCACCTCG	0.423													24	187					0	0	0	0	A	12939373	G	A	12939373	2	1	481	1	0	0	0	0	0	0	0	1	16051	1277	45	2		2	TLR8	23	12939373	Silent	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08		12939373	142331187	196	92892											
CNKSR2	22866	broad.mit.edu	37	chrX	21670433	21670433	+	Frame_Shift_Del	DEL	G	G	-																															tttcttttcaggccagagaaGgggaagtagccattatcgat																										TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:21670433delG	ENST00000425654.2	+	21	3289	c.2809delG	c.(2809-2811)ggfs	p.G937fs	CNKSR2_ENST00000379510.3_Frame_Shift_Del_p.G967fs	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	967					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGCCAGAGAAGGGGAAGTAGC	0.348													37	106	---	---	---	---					-	21670433	G	-	21670433	7	5	481	1	0	1	0	1	0	0	0	0	3637	1000	35	0	2994	0	CNKSR2	23	21670433	Frame_Shift_Del	DEL	G	TCGA-RS-A6TO-01A-32D-A34J-08	8731060	21670433	133600127	197	92893											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973740	29973740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgaagctatgagtacgacGtacctcctaccggcaccctg	10	7	9	15	4	0	1	0	1	0	0	1	3	1	1	5	1	4	4	5	1	5	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:29973740G>A	ENST00000378993.1	+	11	2567	c.1894G>A	c.(1894-1896)Gta>Ata	p.V632I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.V632I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	632	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGAGTACGACGTACCTCCTAC	0.507													10	22					0	0	0	0	A	29973740	G	A	29973740	3	1	481	1	0	0	0	0	1	0	0	0	7714	1145	40	1	1932	1	IL1RAPL1	23	29973740	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	8303307	29973740	125296820	198	92894											
MAGEB1	4112	broad.mit.edu	37	chrX	30269282	30269282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagatctggaaattcatGaatgtgttgggagcctatga	13	11	13	4	0	2	3	1	2	1	1	2	7	2	5	1	2	1	1	1	2	4	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:30269282G>A	ENST00000378981.3	+	4	993	c.672G>A	c.(670-672)atG>atA	p.M224I	MAGEB1_ENST00000397548.2_Missense_Mutation_p.M224I|MAGEB1_ENST00000397550.1_Missense_Mutation_p.M224I	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	224	MAGE.							p.M224I(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GGAAATTCATGAATGTGTTGG	0.478													14	42					0	0	0	0	A	30269282	G	A	30269282	3	1	481	1	0	0	0	0	1	0	0	0	9241	1290	45	2	674	2	MAGEB1	23	30269282	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	295542	30269282	125001278	199	92895											
ATP6AP2	10159	broad.mit.edu	37	chrX	40456836	40456836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacctttcagtcaccttgCgccagctccgtaatcgcctg	8	10	8	15	3	2	1	2	0	0	1	4	1	3	1	5	0	2	2	5	0	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:40456836C>T	ENST00000378438.4	+	5	612	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R120C|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.R76C|ATP6AP2_ENST00000535777.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	152					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						AGTCACCTTGCGCCAGCTCCG	0.408													26	172					0	0	0	0	T	40456836	C	T	40456836	3	4	481	1	0	0	0	0	1	0	0	0	1171	768	27	1	472	1	ATP6AP2	23	40456836	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	10187554	40456836	114813724	200	92896											
AKAP4	8852	broad.mit.edu	37	chrX	49957067	49957067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttctgcaagctatttgtaGagcactgattattgacaatt	11	15	8	7	0	1	3	0	2	1	1	1	3	1	3	0	0	3	5	0	0	5	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:49957067G>C	ENST00000376056.2	-	5	2420	c.2270C>G	c.(2269-2271)tCt>tGt	p.S757C	AKAP4_ENST00000376064.3_Missense_Mutation_p.S757C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.S383C|AKAP4_ENST00000358526.2_Missense_Mutation_p.S766C			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	766					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCTATTTGTAGAGCACTGATT	0.478													5	24					0	0	0	0	C	49957067	G	C	49957067	3	2	481	1	0	0	0	0	1	0	0	0	453	942	33	2	275	2	AKAP4	23	49957067	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	9500231	49957067	105313493	201	92897											
XAGE5	170627	broad.mit.edu	37	chrX	52841625	52841625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatatagaccaagacGatgtttacgacttgctcagc	15	9	9	8	2	1	4	1	0	0	4	1	6	1	4	1	0	3	2	1	0	6	5			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:52841625G>T	ENST00000375503.3	+	1	398	c.35G>T	c.(34-36)cGa>cTa	p.R12L	XAGE5_ENST00000375501.1_Missense_Mutation_p.R12L|XAGE5_ENST00000425386.1_Missense_Mutation_p.R12L|XAGE5_ENST00000351072.1_Missense_Mutation_p.R12L			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	12										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AGACCAAGACGATGTTTACGA	0.433													8	159					0.00621372	0.00629171	1	0	T	52841625	G	T	52841625	3	4	481	1	0	0	0	0	1	0	0	0	17517	1058	37	3	37	3	XAGE5	23	52841625	Missense_Mutation	SNP	G	TCGA-RS-A6TO-01A-32D-A34J-08	2884558	52841625	102428935	202	92898											
HUWE1	10075	broad.mit.edu	37	chrX	53588762	53588762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcaatgatgagatcatcctCccggtcaaagcgctcaaatc	12	9	7	13	2	4	2	4	2	0	1	7	3	6	2	2	1	1	1	2	1	3	0			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:53588762C>G	ENST00000342160.3	-	54	7919	c.7462G>C	c.(7462-7464)Gag>Cag	p.E2488Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2488Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2488	Asp-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCATCCTCCCGGTCAAAG	0.458													5	81					0	0	0	0	G	53588762	C	G	53588762	3	3	481	1	0	0	0	0	1	0	0	0	7514	864	30	2	5782	2	HUWE1	23	53588762	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	747137	53588762	101681798	203	92899											
FAAH2	158584	broad.mit.edu	37	chrX	57367816	57367816	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtatatttggacacaagccTtctccaggtaatgttaatat	12	14	8	7	0	1	0	0	0	1	0	2	1	1	1	2	3	1	3	2	3	6	7			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:57367816T>G	ENST00000374900.4	+	5	855	c.735T>G	c.(733-735)ccT>ccG	p.P245P		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	245						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GACACAAGCCTTCTCCAGGTA	0.418										HNSCC(52;0.14)			8	323					0	0	0	0	G	57367816	T	G	57367816	2	3	481	1	0	0	0	0	0	0	0	1	5395	1596	56	5		5	FAAH2	23	57367816	Silent	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	3779054	57367816	97902744	204	92900											
RAB41	347517	broad.mit.edu	37	chrX	69502411	69502411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatccatcatcagccgcttCatgtacaacagcttcggctg	10	10	7	14	2	3	0	3	0	0	0	5	0	4	0	2	1	4	4	2	1	2	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:69502411C>T	ENST00000374473.2	+	2	199	c.153C>T	c.(151-153)ttC>ttT	p.F51F	RAB41_ENST00000276066.4_Silent_p.F50F			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	51					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						TCAGCCGCTTCATGTACAACA	0.537													14	66					0	0	0	0	T	69502411	C	T	69502411	2	4	481	1	0	0	0	0	0	0	0	1	13025	825	29	2		2	RAB41	23	69502411	Silent	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	12134595	69502411	85768149	205	92901											
MAGT1	84061	broad.mit.edu	37	chrX	77130965	77130965	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcagttggagagcagtgaAcatgacgataacggagtaat	15	8	13	5	2	0	3	0	2	0	1	0	6	0	4	0	2	4	4	0	2	3	3			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:77130965A>T	ENST00000358075.6	-	2	414	c.328T>A	c.(328-330)Ttc>Atc	p.F110I	MAGT1_ENST00000373336.3_Missense_Mutation_p.F78I	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	78					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGAGCAGTGAACATGACGATA	0.398													46	336					0	0	0	0	T	77130965	A	T	77130965	3	4	481	1	0	0	0	0	1	0	0	0	9265	43	2	5	811	5	MAGT1	23	77130965	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	7628554	77130965	78139595	206	92902											
LONRF3	79836	broad.mit.edu	37	chrX	118108892	118108892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggccccgcacctctacCgacgcgggagccagagcaag	10	2	14	15	4	1	2	0	0	1	2	1	4	1	3	5	2	3	2	5	2	2	1			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:118108892C>T	ENST00000365713.2	+	1	312	c.149C>T	c.(148-150)cCg>cTg	p.P50L	LONRF3_ENST00000371628.3_Missense_Mutation_p.P50L|LONRF3_ENST00000304778.7_Missense_Mutation_p.P50L			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	50					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCACCTCTACCGACGCGGGAG	0.677													4	13					0	0	0	0	T	118108892	C	T	118108892	3	4	481	1	0	0	0	0	1	0	0	0	8960	652	23	1	151	1	LONRF3	23	118108892	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	40977927	118108892	37161668	207	92903											
CXorf56	63932	broad.mit.edu	37	chrX	118678342	118678342	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaggctcttgtttctgagTatatatgttcgttttcccaa	8	17	9	7	1	2	1	0	1	2	0	4	2	3	2	1	2	0	5	1	2	4	8			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:118678342T>A	ENST00000320339.4	-	4	521	c.250A>T	c.(250-252)Act>Tct	p.T84S	CXorf56_ENST00000371594.4_Missense_Mutation_p.T133S|CXorf56_ENST00000476164.1_Missense_Mutation_p.T133S|CXorf56_ENST00000536133.1_Missense_Mutation_p.T119S|CXorf56_ENST00000486230.1_Missense_Mutation_p.T133S	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	133							protein binding			cervix(1)|endometrium(2)|lung(7)	10						TGTTTCTGAGTATATATGTTC	0.403													43	245					0	0	0	0	A	118678342	T	A	118678342	3	1	481	1	0	0	0	0	1	0	0	0	4144	1638	57	5	287	5	CXorf56	23	118678342	Missense_Mutation	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	569450	118678342	36592218	208	92904											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685745	125685745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacaggtggaagtagccgtCcaaggacaccgctcccagtt	10	6	11	14	2	0	0	0	0	0	0	2	2	2	2	5	3	1	3	5	3	3	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:125685745C>T	ENST00000371126.1	-	1	1089	c.847G>A	c.(847-849)Gac>Aac	p.D283N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	283										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AAGTAGCCGTCCAAGGACACC	0.622													8	93					0	0	0	0	T	125685745	C	T	125685745	3	4	481	1	0	0	0	0	1	0	0	0	4297	855	30	2	548	2	DCAF12L1	23	125685745	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	7007403	125685745	29584815	209	92905											
MAGEC1	9947	broad.mit.edu	37	chrX	140994837	140994837	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctcctcactactttccTcagagccctcctcaggggga	6	11	8	16	0	4	1	3	0	1	1	7	2	6	2	4	2	2	0	4	2	1	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:140994837T>A	ENST00000285879.4	+	4	1933	c.1647T>A	c.(1645-1647)ccT>ccA	p.P549P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	549							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTACTTTCCTCAGAGCCCTC	0.552										HNSCC(15;0.026)			45	346					0	0	0	0	A	140994837	T	A	140994837	2	1	481	1	0	0	0	0	0	0	0	1	9249	1538	54	5		5	MAGEC1	23	140994837	Silent	SNP	T	TCGA-RS-A6TO-01A-32D-A34J-08	15309092	140994837	14275723	210	92906											
MAGEC2	51438	broad.mit.edu	37	chrX	141291308	141291308	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaggctcctctgcttcgtAtttgaggagcaggaactcca	9	11	10	11	1	1	1	0	1	1	0	4	3	3	3	2	3	4	4	2	3	3	4			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:141291308A>G	ENST00000247452.3	-	3	813	c.466T>C	c.(466-468)Tac>Cac	p.Y156H		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	156	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCTTCGTATTTGAGGAGC	0.478										HNSCC(46;0.14)			50	262					0	0	0	0	G	141291308	A	G	141291308	3	3	481	1	0	0	0	0	1	0	0	0	9250	449	16	5	659	5	MAGEC2	23	141291308	Missense_Mutation	SNP	A	TCGA-RS-A6TO-01A-32D-A34J-08	296471	141291308	13979252	211	92907											
PDZD4	57595	broad.mit.edu	37	chrX	153070325	153070325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcaggcctgggccggcatCgggagcccccttctcctctt	3	9	12	17	2	3	0	1	0	2	0	5	1	3	1	5	4	1	2	5	4	0	2			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:153070325C>T	ENST00000164640.4	-	8	984	c.793G>A	c.(793-795)Gat>Aat	p.D265N	PDZD4_ENST00000393758.2_Missense_Mutation_p.D190N|PDZD4_ENST00000544474.1_Missense_Mutation_p.D156N	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	265						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					GGGCCGGCATCGGGAGCCCCC	0.632													23	49					0	0	0	0	T	153070325	C	T	153070325	3	4	481	1	0	0	0	0	1	0	0	0	11774	884	31	1	1520	1	PDZD4	23	153070325	Missense_Mutation	SNP	C	TCGA-RS-A6TO-01A-32D-A34J-08	11779017	153070325	2200235	212	92908											
EPHA2	1969	broad.mit.edu	37	chr1	16464522	16464522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagtagcgcacactggcctCacacggcccgcattccccag	8	5	10	18	4	1	0	1	0	0	0	2	1	2	0	4	2	1	3	4	2	1	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:16464522C>T	ENST00000358432.5	-	5	1292	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	380	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACACTGGCCTCACACGGCCCG	0.657													31	21					0	0	0	0	T	16464522	C	T	16464522	3	4	482	1	0	0	0	0	1	0	0	0	5205	835	29	2	1844	2	EPHA2	1	16464522	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08		16464522	232786099	1	92909											
CATSPER4	378807	broad.mit.edu	37	chr1	26527508	26527508	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaacctgaggcagtacaAggagatccgagatgaactca	15	5	13	8	1	1	5	1	2	0	3	2	8	2	5	2	3	3	2	2	3	4	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:26527508A>T	ENST00000456354.2	+	8	1242	c.1175A>T	c.(1174-1176)aAg>aTg	p.K392M		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	392					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGTACAAGGAGATCCGA	0.562													4	89					0	0	0	0	T	26527508	A	T	26527508	3	4	482	1	0	0	0	0	1	0	0	0	2715	72	3	5	1205	5	CATSPER4	1	26527508	Missense_Mutation	SNP	A	TCGA-RS-A6TP-01A-12D-A34J-08	10062986	26527508	222723113	2	92910											
ARID1A	8289	broad.mit.edu	37	chr1	27087901	27087902	+	Frame_Shift_Ins	INS	-	-	GT																															gatgccacctcggccacccaINSgtggccagtcggacagcatc																										TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:27087901_27087902insGT	ENST00000324856.7	+	6	2559_2560	c.2188_2189insGT	c.(2188-2190)tggfs	p.W730fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.W730fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.W347fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	730					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R727fs*12(1)|p.P728fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCGGCCACCCAGTGGCCAGTCG	0.53			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								24	63	---	---	---	---					GT	27087902	-	GT	27087901	7	5	482	1	0	1	1	0	0	0	0	0	915	188	7	0	2210	0	ARID1A	1	27087901	Frame_Shift_Ins	INS	-	TCGA-RS-A6TP-01A-12D-A34J-08	560393	27087901	222162720	3	92911											
SESN2	83667	broad.mit.edu	37	chr1	28598203	28598203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtccttcgggagggggctGagagcctcgagcagcacctg	7	6	17	11	2	0	1	0	1	0	1	3	4	1	2	3	4	3	3	3	4	0	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:28598203G>C	ENST00000253063.3	+	3	496	c.175G>C	c.(175-177)Gag>Cag	p.E59Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	59					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGGGGCTGAGAGCCTCGA	0.587													22	40					0	0	0	0	C	28598203	G	C	28598203	3	2	482	1	0	0	0	0	1	0	0	0	14212	1291	45	2	185	2	SESN2	1	28598203	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	1510302	28598203	220652418	4	92912											
MATN1	4146	broad.mit.edu	37	chr1	31194536	31194536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcaaattcaacaggccGaacgctgcgagagctgtcga	11	9	10	11	4	2	1	2	0	1	1	4	4	2	1	1	1	4	2	1	1	3	2	rs145452251		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:31194536G>A	ENST00000373765.4	-	2	192	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	53	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACAGGCCGAACGCTGCGA	0.607													70	68					0	0	0	0	A	31194536	G	A	31194536	3	1	482	1	0	0	0	0	1	0	0	0	9402	1057	37	1	1361	1	MATN1	1	31194536	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	2596333	31194536	218056085	5	92913											
HIVEP3	59269	broad.mit.edu	37	chr1	42049848	42049848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgagcgaatgtgcttctgGagcacgctgggcttggcaca	7	10	15	9	2	1	1	0	1	1	0	1	3	1	2	0	3	3	5	0	3	1	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:42049848G>A	ENST00000372584.1	-	3	1635	c.621C>T	c.(619-621)ctC>ctT	p.L207L	HIVEP3_ENST00000429157.2_Silent_p.L207L|HIVEP3_ENST00000372583.1_Silent_p.L207L|HIVEP3_ENST00000247584.5_Silent_p.L207L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	207	ZAS1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTGCTTCTGGAGCACGCTGG	0.582													47	50					0	0	0	0	A	42049848	G	A	42049848	2	1	482	1	0	0	0	0	0	0	0	1	7238	1161	41	2		2	HIVEP3	1	42049848	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	10855312	42049848	207200773	6	92914											
SPATA1	100505741	broad.mit.edu	37	chr1	84982061	84982061	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatgtcactcaatccaagtCgaccttcctcatcagaggta	12	11	6	12	1	4	1	4	0	0	1	7	2	6	1	3	1	0	1	3	1	4	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:84982061C>T	ENST00000370638.2	+	0	284									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		CAATCCAAGTCGACCTTCCTC	0.274													6	5					0	0	0	0	T	84982061	C	T	84982061	1	4	482	0	1	0	0	0	0	0	0	0	15088	876	31	1		1	SPATA1	1	84982061	RNA	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	42932213	84982061	164268560	7	92915											
MTF2	22823	broad.mit.edu	37	chr1	93575922	93575922	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccagcatgtaaatttgaAgagggtcaggatgtcctagc	13	9	12	7	0	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	5	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:93575922A>T	ENST00000370298.4	+	2	430	c.141A>T	c.(139-141)gaA>gaT	p.E47D	MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000370303.4_Missense_Mutation_p.E47D|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	47						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTAAATTTGAAGAGGGTCAGG	0.418													4	161					0	0	0	0	T	93575922	A	T	93575922	3	4	482	1	0	0	0	0	1	0	0	0	9993	69	3	5	147	5	MTF2	1	93575922	Missense_Mutation	SNP	A	TCGA-RS-A6TP-01A-12D-A34J-08	8593861	93575922	155674699	8	92916											
OLFM3	118427	broad.mit.edu	37	chr1	102302509	102302509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctggagcaacaactgTgcaaatgcaccgcccatcag	11	9	9	12	1	2	0	1	0	1	0	2	1	2	1	2	1	5	4	2	1	3	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:102302509T>C	ENST00000370103.4	-	2	355	c.142A>G	c.(142-144)Aca>Gca	p.T48A	OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.T68A|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.T68A	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	68						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCAACAACTGTGCAAATGCAC	0.498													42	51					0	0	0	0	C	102302509	T	C	102302509	3	2	482	1	0	0	0	0	1	0	0	0	10925	1696	59	5	1254	5	OLFM3	1	102302509	Missense_Mutation	SNP	T	TCGA-RS-A6TP-01A-12D-A34J-08	8726587	102302509	146948112	9	92917											
LRIG2	9860	broad.mit.edu	37	chr1	113638916	113638916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagcttattggagagattGaatttaggagacaacagagt	14	11	12	4	0	0	5	0	2	0	3	0	8	0	6	0	2	2	1	0	2	4	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:113638916G>A	ENST00000361127.4	+	8	1218	c.1020G>A	c.(1018-1020)ttG>ttA	p.L340L		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	340						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGAGATTGAATTTAGGAG	0.398													89	118					0	0	0	0	A	113638916	G	A	113638916	2	1	482	1	0	0	0	0	0	0	0	1	9009	1281	45	2		2	LRIG2	1	113638916	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	11336407	113638916	135611705	10	92918											
PRPF3	9129	broad.mit.edu	37	chr1	150312892	150312892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacagaggaaaatcccaaGagagaagattattttggaat	18	9	10	4	0	0	4	0	0	0	4	1	7	1	6	1	2	1	1	1	2	7	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:150312892G>C	ENST00000324862.6	+	9	1386	c.1221G>C	c.(1219-1221)aaG>aaC	p.K407N	PRPF3_ENST00000414970.2_Missense_Mutation_p.K358N|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Missense_Mutation_p.E271Q	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	407					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AAAATCCCAAGAGAGAAGATT	0.378													26	47					0	0	0	0	C	150312892	G	C	150312892	3	2	482	1	0	0	0	0	1	0	0	0	12645	933	33	2	1251	2	PRPF3	1	150312892	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	36673976	150312892	98937729	11	92919											
CLK2	1196	broad.mit.edu	37	chr1	155233062	155233062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgttgggcggctcagcccGaaggcgggcgaagaaaggat	9	6	17	9	4	1	1	1	0	0	1	1	4	1	2	1	5	1	2	1	5	3	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:155233062G>A	ENST00000368361.4	-	13	1762	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	CLK2_ENST00000536801.1_Missense_Mutation_p.R483W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.R482W|CLK2_ENST00000355560.4_Missense_Mutation_p.R481W			P49760	CLK2_HUMAN	CDC-like kinase 2	483						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTCAGCCCGAAGGCGGGCG	0.572								Other conserved DNA damage response genes					26	36					0	0	0	0	A	155233062	G	A	155233062	3	1	482	1	0	0	0	0	1	0	0	0	3567	1057	37	1	56	1	CLK2	1	155233062	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	4920170	155233062	94017559	12	92920											
FCRL3	115352	broad.mit.edu	37	chr1	157667192	157667192	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggaagagctggctctCagcacaggatgtagaaacag	12	6	15	8	1	1	2	1	0	1	2	2	4	1	4	0	4	3	4	0	4	3	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:157667192C>A	ENST00000368184.3	-	6	873	c.582G>T	c.(580-582)ctG>ctT	p.L194L	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L194L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	194	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCTGGCTCTCAGCACAGGAT	0.527													19	48					0.000175454	0.000178239	1	0	A	157667192	C	A	157667192	2	1	482	1	0	0	0	0	0	0	0	1	5841	813	29	2		2	FCRL3	1	157667192	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	2434130	157667192	91583429	13	92921											
DDX59	83479	broad.mit.edu	37	chr1	200619732	200619732	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgaaaccaaaatggtctGacaatcattaggaatgtttt	14	12	9	6	0	2	2	1	2	1	0	2	3	2	3	1	3	1	2	1	3	6	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:200619732G>A	ENST00000447706.2	-	5	1286	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	DDX59_ENST00000331314.6_Nonsense_Mutation_p.Q379*|DDX59_ENST00000367348.3_Nonsense_Mutation_p.Q379*			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	379	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAAATGGTCTGACAATCATTA	0.363													40	55					0	0	0	0	A	200619732	G	A	200619732	4	1	482	1	0	0	0	0	0	1	0	0	4408	1299	45	2	740	2	DDX59	1	200619732	Nonsense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	42952540	200619732	48630889	14	92922											
TLR5	7100	broad.mit.edu	37	chr1	223284385	223284385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagataaaacagaagccccgGaactttgtgactgtgaggat	14	8	11	8	1	0	4	0	2	0	2	0	6	0	6	2	2	3	0	2	2	4	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:223284385G>A	ENST00000540964.1	-	4	2450	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	TLR5_ENST00000342210.6_Silent_p.F663F			O60602	TLR5_HUMAN	toll-like receptor 5	663			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAAGCCCCGGAACTTTGTGA	0.443													5	75					0	0	0	0	A	223284385	G	A	223284385	2	1	482	1	0	0	0	0	0	0	0	1	16048	1165	41	2		2	TLR5	1	223284385	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	22664653	223284385	25966236	15	92923											
FMN2	56776	broad.mit.edu	37	chr1	240370281	240370281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcaggcgatgtctgtctCgaagctctcaggttagaaga	9	10	12	10	2	4	2	2	0	3	2	6	4	4	2	1	2	1	2	1	2	3	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:240370281C>T	ENST00000319653.9	+	5	2399	c.2169C>T	c.(2167-2169)ctC>ctT	p.L723L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	723					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATGTCTGTCTCGAAGCTCTCA	0.532													22	29					0	0	0	0	T	240370281	C	T	240370281	2	4	482	1	0	0	0	0	0	0	0	1	5995	871	31	1		1	FMN2	1	240370281	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	17085896	240370281	8880340	16	92924											
CEP170	9859	broad.mit.edu	37	chr1	243349126	243349126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcctcactgttgggattCtctaactcaatggtataagt	10	15	7	9	0	3	0	2	0	1	0	5	1	4	1	1	2	1	2	1	2	4	6			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:243349126C>G	ENST00000366542.1	-	10	1572	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	507						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTTGGGATTCTCTAACTCAA	0.348													66	76					0	0	0	0	G	243349126	C	G	243349126	3	3	482	1	0	0	0	0	1	0	0	0	3279	912	32	2	3307	2	CEP170	1	243349126	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	2978845	243349126	5901495	17	92925											
CCDC88A	55704	broad.mit.edu	37	chr2	55601988	55601988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgattaagacatttggcAacgacatcatgatcaattgc	15	11	7	8	1	2	3	2	2	0	1	2	4	2	3	0	1	2	1	0	1	4	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:55601988A>G	ENST00000436346.1	-	4	1146	c.305T>C	c.(304-306)tTg>tCg	p.L102S	CCDC88A_ENST00000413716.2_Missense_Mutation_p.L102S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L102S|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L102S	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	102					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GACATTTGGCAACGACATCAT	0.308													67	125					0	0	0	0	G	55601988	A	G	55601988	3	3	482	1	0	0	0	0	1	0	0	0	2890	131	5	5	5426	5	CCDC88A	2	55601988	Missense_Mutation	SNP	A	TCGA-RS-A6TP-01A-12D-A34J-08		55601988	187597385	18	92926											
NFU1	27247	broad.mit.edu	37	chr2	69659119	69659119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttaatggtgtatggattCttcaacatatgacagaacct	12	15	7	7	0	3	2	1	1	2	1	3	3	3	3	1	2	2	1	1	2	5	6			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:69659119C>G	ENST00000410022.2	-	2	286	c.81G>C	c.(79-81)aaG>aaC	p.K27N	NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.K3N	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	27					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TGTATGGATTCTTCAACATAT	0.353													19	35					0	0	0	0	G	69659119	C	G	69659119	3	3	482	1	0	0	0	0	1	0	0	0	10456	912	32	2	711	2	NFU1	2	69659119	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	14057131	69659119	173540254	19	92927											
ALMS1	7840	broad.mit.edu	37	chr2	73675676	73675676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccactcacatgtagaggaCctcctctttttctatcgaca	9	13	5	14	1	3	1	1	0	2	1	6	3	5	2	3	1	0	1	3	1	2	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:73675676C>T	ENST00000264448.6	+	8	2130	c.2019C>T	c.(2017-2019)gaC>gaT	p.D673D	ALMS1_ENST00000409009.1_Silent_p.D631D|ALMS1_ENST00000377715.1_Silent_p.D673D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	673	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				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						ATGTAGAGGACCTCCTCTTTT	0.507													59	87					0	0	0	0	T	73675676	C	T	73675676	2	4	482	1	0	0	0	0	0	0	0	1	535	506	18	4		4	ALMS1	2	73675676	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	4016557	73675676	169523697	20	92928											
SEMA4C	54910	broad.mit.edu	37	chr2	97531637	97531637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttctggatacactcagtCttcttctccacgggggcctc	5	13	8	15	1	5	0	1	0	4	0	7	1	5	1	3	3	1	0	3	3	1	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:97531637C>G	ENST00000305476.5	-	4	420	c.288G>C	c.(286-288)aaG>aaC	p.K96N		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	96	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TACACTCAGTCTTCTTCTCCA	0.597													27	54					0	0	0	0	G	97531637	C	G	97531637	3	3	482	1	0	0	0	0	1	0	0	0	14120	912	32	2	2261	2	SEMA4C	2	97531637	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	23855961	97531637	145667736	21	92929											
GPR45	11250	broad.mit.edu	37	chr2	105859151	105859151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtgggcttctccctctGctggctgccccactccgtct	1	13	9	18	2	3	0	0	0	3	0	6	0	4	0	4	2	2	3	4	2	0	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:105859151G>A	ENST00000258456.1	+	1	952	c.836G>A	c.(835-837)tGc>tAc	p.C279Y		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	279						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TTCTCCCTCTGCTGGCTGCCC	0.612													23	241					0	0	0	0	A	105859151	G	A	105859151	3	1	482	1	0	0	0	0	1	0	0	0	6745	1319	46	4	838	4	GPR45	2	105859151	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	8327514	105859151	137340222	22	92930											
LCT	3938	broad.mit.edu	37	chr2	136566217	136566217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgaagggtcctcctcctCagccatctcctggtcgtctt	5	11	8	17	2	3	0	1	0	2	0	8	1	6	0	6	2	1	0	6	2	1	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:136566217C>T	ENST00000264162.2	-	8	3710	c.3700G>A	c.(3700-3702)Gag>Aag	p.E1234K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1234	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCTCCTCCTCAGCCATCTCC	0.577													78	90					0	0	0	0	T	136566217	C	T	136566217	3	4	482	1	0	0	0	0	1	0	0	0	8746	835	29	2	2123	2	LCT	2	136566217	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	30707066	136566217	106633156	23	92931											
LRP1B	53353	broad.mit.edu	37	chr2	141812813	141812813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatatggatcgacttcaCatgcatggcttctgactaca	10	13	7	11	1	2	1	1	1	1	0	4	3	3	2	1	2	2	2	1	2	2	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:141812813C>T	ENST00000389484.3	-	10	2395	c.1424G>A	c.(1423-1425)tGt>tAt	p.C475Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	475					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCGACTTCACATGCATGGCT	0.418										TSP Lung(27;0.18)			4	80					0	0	0	0	T	141812813	C	T	141812813	3	4	482	1	0	0	0	0	1	0	0	0	9019	478	17	4	12703	4	LRP1B	2	141812813	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	5246596	141812813	101386560	24	92932											
TTN	7273	broad.mit.edu	37	chr2	179392441	179392441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtgtcaccacttgttctCaatactacctctctggaagg	8	14	7	12	0	3	0	2	0	2	0	5	1	3	1	2	2	2	1	2	2	4	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:179392441C>G	ENST00000589042.1	-	362	107636	c.107412G>C	c.(107410-107412)ttG>ttC	p.L35804F	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L26864F|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L26739F|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L26931F|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L33236F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L34163F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34163							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTGTTCTCAATACTACCT	0.468													20	27					0	0	0	0	G	179392441	C	G	179392441	3	3	482	1	0	0	0	0	1	0	0	0	16831	825	29	2	571	2	TTN	2	179392441	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	37579628	179392441	63806932	25	92933											
TTN	7273	broad.mit.edu	37	chr2	179414043	179414043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagagattggtcgtttgctGatcacttttacccatcttgt	7	17	8	9	1	3	2	2	1	1	1	4	3	3	2	1	1	2	2	1	1	1	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:179414043G>C	ENST00000589042.1	-	339	92534	c.92310C>G	c.(92308-92310)atC>atG	p.I30770M	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I21830M|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I21705M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I21897M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I28202M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I29129M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29129	Fibronectin type-III 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGTTTGCTGATCACTTTTA	0.428													46	78					0	0	0	0	C	179414043	G	C	179414043	3	2	482	1	0	0	0	0	1	0	0	0	16831	1280	45	2	15765	2	TTN	2	179414043	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	21602	179414043	63785330	26	92934											
ZNF385B	151126	broad.mit.edu	37	chr2	180311336	180311336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattttttggctttttcttCttctgattcaacaacagtac	9	20	4	8	0	4	1	1	1	3	0	4	1	4	1	0	1	3	2	0	1	4	10			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:180311336C>T	ENST00000410066.1	-	7	1435	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.E176K|ZNF385B_ENST00000409343.1_Missense_Mutation_p.E202K|ZNF385B_ENST00000336917.5_Missense_Mutation_p.E176K	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	278						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCTTTTTCTTCTTCTGATTCA	0.463													46	60					0	0	0	0	T	180311336	C	T	180311336	3	4	482	1	0	0	0	0	1	0	0	0	17972	922	32	2	599	2	ZNF385B	2	180311336	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	897293	180311336	62888037	27	92935											
RFTN1	23180	broad.mit.edu	37	chr3	16450954	16450954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacagcaatctaattccaaGatgtagccttcattgtgaag	14	11	8	8	0	2	2	1	1	1	1	3	3	3	2	2	0	3	2	2	0	6	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:16450954G>C	ENST00000334133.4	-	4	641	c.369C>G	c.(367-369)atC>atG	p.I123M	RFTN1_ENST00000432519.1_Missense_Mutation_p.I87M	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	123						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTAATTCCAAGATGTAGCCTT	0.418													36	54					0	0	0	0	C	16450954	G	C	16450954	3	2	482	1	0	0	0	0	1	0	0	0	13340	932	33	2	1395	2	RFTN1	3	16450954	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		16450954	181571476	28	92936											
STT3B	201595	broad.mit.edu	37	chr3	31674465	31674465	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggttttgaccgaacacgTaatgctgagattggaaataa	14	10	10	7	2	0	2	0	2	0	1	0	5	0	3	2	2	2	3	2	2	4	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:31674465T>C	ENST00000295770.2	+	15	2435	c.2226T>C	c.(2224-2226)cgT>cgC	p.R742R		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	742					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						ACCGAACACGTAATGCTGAGA	0.368													6	148					0	0	0	0	C	31674465	T	C	31674465	2	2	482	1	0	0	0	0	0	0	0	1	15424	1625	57	5		5	STT3B	3	31674465	Silent	SNP	T	TCGA-RS-A6TP-01A-12D-A34J-08	15223511	31674465	166347965	29	92937											
TRAIP	10293	broad.mit.edu	37	chr3	49867055	49867055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagccacactcaccacatCtttgctgcaagaggactctg	11	8	9	13	0	3	1	1	0	2	1	3	3	3	3	2	2	3	2	2	2	2	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:49867055C>G	ENST00000331456.2	-	13	1344	c.1231G>C	c.(1231-1233)Gat>Cat	p.D411H	TRAIP_ENST00000469027.1_Missense_Mutation_p.D256H	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	411	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCACCACATCTTTGCTGCAA	0.572													28	47					0	0	0	0	G	49867055	C	G	49867055	3	3	482	1	0	0	0	0	1	0	0	0	16543	913	32	2	190	2	TRAIP	3	49867055	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	18192590	49867055	148155375	30	92938											
KPNA1	3836	broad.mit.edu	37	chr3	122186243	122186243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttcttcttctgtttcttCttctgctgtagcaacatttc	6	20	4	11	0	6	0	0	0	6	0	7	0	6	0	0	0	4	4	0	0	3	8			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:122186243C>T	ENST00000344337.6	-	3	339	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	55	IBB.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCTGTTTCTTCTTCTGCTGTA	0.363													28	88					0	0	0	0	T	122186243	C	T	122186243	3	4	482	1	0	0	0	0	1	0	0	0	8481	922	32	2	1501	2	KPNA1	3	122186243	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	72319188	122186243	75836187	31	92939											
ESYT3	83850	broad.mit.edu	37	chr3	138178050	138178050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatcggggactgtgagatCagtgtggagctgcagaagat	11	9	15	6	1	1	3	1	1	0	3	2	6	1	5	0	3	3	2	0	3	2	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:138178050C>T	ENST00000389567.4	+	5	789	c.603C>T	c.(601-603)atC>atT	p.I201I	ESYT3_ENST00000289135.4_Silent_p.I201I	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	201						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACTGTGAGATCAGTGTGGAGC	0.602													78	253					0	0	0	0	T	138178050	C	T	138178050	2	4	482	1	0	0	0	0	0	0	0	1	5304	816	29	2		2	ESYT3	3	138178050	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	15991807	138178050	59844380	32	92940											
CP	1356	broad.mit.edu	37	chr3	148903144	148903144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtagaaggtggaatcctCagactgccgcctgcattggt	9	9	13	10	1	1	2	1	0	0	2	2	3	2	3	3	4	2	2	3	4	3	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:148903144C>G	ENST00000264613.6	-	12	2429	c.2167G>C	c.(2167-2169)Gag>Cag	p.E723Q	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	723					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			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)	GTGGAATCCTCAGACTGCCGC	0.478													83	300					0	0	0	0	G	148903144	C	G	148903144	3	3	482	1	0	0	0	0	1	0	0	0	3817	835	29	2	1062	2	CP	3	148903144	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	10725094	148903144	49119286	33	92941											
EHHADH	1962	broad.mit.edu	37	chr3	184947316	184947316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtcccagtgtaacttctgGtaagccaacttgagcctatc	11	11	8	11	0	1	1	0	1	1	0	3	1	2	1	3	1	4	2	3	1	5	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:184947316G>C	ENST00000231887.3	-	4	442	c.367C>G	c.(367-369)Cca>Gca	p.P123A	EHHADH_ENST00000456310.1_Missense_Mutation_p.P27A|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	123	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GTAACTTCTGGTAAGCCAACT	0.473													31	22					0	0	0	0	C	184947316	G	C	184947316	3	2	482	1	0	0	0	0	1	0	0	0	5018	1261	44	4	1820	4	EHHADH	3	184947316	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	36044172	184947316	13075114	34	92942											
ADIPOQ	9370	broad.mit.edu	37	chr3	186572383	186572383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcatctggaggtgggcGaccaagtctggctccaggtg	6	9	15	11	1	2	0	0	0	2	0	4	2	4	1	3	5	1	2	3	5	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:186572383G>A	ENST00000412955.2	+	3	766	c.625G>A	c.(625-627)Gac>Aac	p.D209N	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.D209N|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.D209N|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	209	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGAGGTGGGCGACCAAGTCTG	0.507													93	99					0	0	0	0	A	186572383	G	A	186572383	3	1	482	1	0	0	0	0	1	0	0	0	317	1058	37	1	631	1	ADIPOQ	3	186572383	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	1625067	186572383	11450047	35	92943											
MASP1	5648	broad.mit.edu	37	chr3	186954356	186954356	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgggagggctgaccacactCtgtaaggagaaagagggagc	12	4	17	8	1	1	3	0	1	1	2	1	6	1	5	1	4	1	2	1	4	2	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:186954356C>G	ENST00000296280.6	-	11	1529		c.e11-1		MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGACCACACTCTGTAAGGAGA	0.552													50	185					0	0	0	0	G	186954356	C	G	186954356	5	3	482	1	0	0	0	0	0	0	1	0	9391	927	32	2	1708	2	MASP1	3	186954356	Splice_Site	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	381973	186954356	11068074	36	92944											
KDR	3791	broad.mit.edu	37	chr4	55984812	55984812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccaagtcagtttccCggtagaagcacttgtaggct	9	9	12	11	2	1	1	1	0	0	1	2	2	2	1	3	3	1	5	3	3	4	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:55984812C>T	ENST00000263923.4	-	3	612	c.317G>A	c.(316-318)cGg>cAg	p.R106Q		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	106	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTCAGTTTCCCGGTAGAAGCA	0.438			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			4	123					0	0	0	0	T	55984812	C	T	55984812	3	4	482	1	0	0	0	0	1	0	0	0	8191	652	23	1	3865	1	KDR	4	55984812	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08		55984812	135169464	37	92945											
COL25A1	84570	broad.mit.edu	37	chr4	110223071	110223071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggagggccgccaggacGgcacacgggggcatggtccg	8	2	19	12	4	0	0	0	0	0	0	1	3	1	2	3	7	0	2	3	7	0	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:110223071G>A	ENST00000399132.1	-	2	635	c.105C>T	c.(103-105)gcC>gcT	p.A35A	COL25A1_ENST00000399126.1_Silent_p.A35A|COL25A1_ENST00000399127.1_Silent_p.A35A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	35						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCGCCAGGACGGCACACGGGG	0.662													38	60					0	0	0	0	A	110223071	G	A	110223071	2	1	482	1	0	0	0	0	0	0	0	1	3714	1103	39	1		1	COL25A1	4	110223071	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	54238259	110223071	80931205	38	92946											
SEC24B	10427	broad.mit.edu	37	chr4	110394259	110394259	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatcctcaggatcctcatCaacaagaacacctcccactg	13	7	6	15	0	3	1	3	0	0	1	6	3	6	3	4	2	2	0	4	2	3	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:110394259C>G	ENST00000265175.5	+	3	1032	c.977C>G	c.(976-978)tCa>tGa	p.S326*	SEC24B_ENST00000399100.2_Nonsense_Mutation_p.S326*|SEC24B_ENST00000504968.2_Nonsense_Mutation_p.S357*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	326					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|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGATCCTCATCAACAAGAACA	0.438													31	59					0	0	0	0	G	110394259	C	G	110394259	4	3	482	1	0	0	0	0	0	1	0	0	14082	838	29	2	987	2	SEC24B	4	110394259	Nonsense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	171188	110394259	80760017	39	92947											
CEP72	55722	broad.mit.edu	37	chr5	635560	635560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaagcagggccgtgagacGaggaggagcagctgcagagg	11	2	21	7	2	0	2	0	1	0	2	0	7	0	5	1	5	4	4	1	5	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:635560G>A	ENST00000264935.5	+	6	855	c.765G>A	c.(763-765)acG>acA	p.T255T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	255					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCCGTGAGACGAGGAGGAGCA	0.542													17	25					0	0	0	0	A	635560	G	A	635560	2	1	482	1	0	0	0	0	0	0	0	1	3289	1045	37	1		1	CEP72	5	635560	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		635560	180279700	40	92948											
DNAH5	1767	broad.mit.edu	37	chr5	13714730	13714730	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcataggcaggcaaactCtgaacaacagacaccccaga	15	5	8	13	0	2	3	1	1	1	2	2	3	2	3	2	2	3	2	2	2	4	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:13714730C>A	ENST00000265104.4	-	75	13014		c.e75-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGCAAACTCTGAACAACAG	0.488									Kartagener syndrome				14	23					4.3838e-07	4.50101e-07	1	0	A	13714730	C	A	13714730	5	1	482	1	0	0	0	0	0	0	1	0	4641	927	32	2	985	2	DNAH5	5	13714730	Splice_Site	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	13079170	13714730	167200530	41	92949											
DNAH5	1767	broad.mit.edu	37	chr5	13727702	13727702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatcataggcatttggaaGaggttcctcctccgggtttt	7	16	10	8	1	1	1	1	0	0	1	4	2	4	2	3	4	0	3	3	4	3	7			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:13727702G>A	ENST00000265104.4	-	70	12051	c.11947C>T	c.(11947-11949)Ctt>Ttt	p.L3983F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3983					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3983F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTTGGAAGAGGTTCCTCC	0.413									Kartagener syndrome				44	52					0	0	0	0	A	13727702	G	A	13727702	3	1	482	1	0	0	0	0	1	0	0	0	4641	942	33	2	1967	2	DNAH5	5	13727702	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	12972	13727702	167187558	42	92950											
SKP2	6502	broad.mit.edu	37	chr5	36163786	36163786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccggatgagctgctcttggGaatcttttcctgtctgtgcc	4	15	11	11	1	3	1	0	1	3	0	5	3	5	3	3	2	3	2	3	2	1	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:36163786G>C	ENST00000274255.6	+	3	516	c.320G>C	c.(319-321)gGa>gCa	p.G107A	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.G107A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	107	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCTCTTGGGAATCTTTTCC	0.478													26	40					0	0	0	0	C	36163786	G	C	36163786	3	2	482	1	0	0	0	0	1	0	0	0	14450	1174	41	2	330	2	SKP2	5	36163786	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	22436084	36163786	144751474	43	92951											
NIPBL	25836	broad.mit.edu	37	chr5	37044527	37044527	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatggagcatccaagtGaaacttttcttgccactatt	11	13	7	10	0	1	2	0	2	1	0	2	3	2	3	2	1	3	1	2	1	3	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:37044527G>T	ENST00000282516.8	+	35	6686	c.6187G>T	c.(6187-6189)Gaa>Taa	p.E2063*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E2063*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2063					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCATCCAAGTGAAACTTTTCT	0.348													41	59					6.5261e-18	6.77304e-18	1	0	T	37044527	G	T	37044527	4	4	482	1	0	0	0	0	0	1	0	0	10498	1291	45	2	6321	2	NIPBL	5	37044527	Nonsense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	880741	37044527	143870733	44	92952											
CARD6	84674	broad.mit.edu	37	chr5	40852293	40852293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaagaaaaaaggtgtttAaagatgtcctgttatgtttg	15	13	10	3	0	0	3	0	0	0	3	1	3	1	3	1	1	0	3	1	1	7	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:40852293A>G	ENST00000254691.5	+	3	1058	c.859A>G	c.(859-861)Aaa>Gaa	p.K287E	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	287					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAAGGTGTTTAAAGATGTCCT	0.378													25	39					0	0	0	0	G	40852293	A	G	40852293	3	3	482	1	0	0	0	0	1	0	0	0	2675	363	13	5	869	5	CARD6	5	40852293	Missense_Mutation	SNP	A	TCGA-RS-A6TP-01A-12D-A34J-08	3807766	40852293	140062967	45	92953											
MAP1B	4131	broad.mit.edu	37	chr5	71495348	71495348	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaacccctcaggcatccAcatattcctacgagacttca	12	9	5	15	1	2	2	2	0	0	2	4	3	4	2	4	1	2	1	4	1	4	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:71495348A>G	ENST00000296755.7	+	5	6464	c.6166A>G	c.(6166-6168)Aca>Gca	p.T2056A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2056						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGGCATCCACATATTCCTA	0.463													23	122					0	0	0	0	G	71495348	A	G	71495348	3	3	482	1	0	0	0	0	1	0	0	0	9297	159	6	5	6184	5	MAP1B	5	71495348	Missense_Mutation	SNP	A	TCGA-RS-A6TP-01A-12D-A34J-08	30643055	71495348	109419912	46	92954											
AGGF1	55109	broad.mit.edu	37	chr5	76332495	76332495	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggatttagttatgatGaaaatactggactgtatttt	13	16	9	3	0	0	3	0	2	0	1	0	5	0	5	0	2	1	2	0	2	6	7			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:76332495G>T	ENST00000312916.7	+	4	1013	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	211					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TAGTTATGATGAAAATACTGG	0.388													43	94					8.16277e-20	8.56422e-20	1	0	T	76332495	G	T	76332495	4	4	482	1	0	0	0	0	0	1	0	0	382	1291	45	2	645	2	AGGF1	5	76332495	Nonsense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	4837147	76332495	104582765	47	92955											
MSH3	4437	broad.mit.edu	37	chr5	80063916	80063916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggagcattacttaaaGatactcaatgaacaagctgc	15	9	8	9	0	1	2	1	1	0	1	1	3	1	3	1	1	6	2	1	1	7	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:80063916G>T	ENST00000265081.6	+	14	2141	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	687					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTACTTAAAGATACTCAATG	0.398								Mismatch excision repair (MMR)					51	57					2.69953e-25	2.84786e-25	1	0	T	80063916	G	T	80063916	3	4	482	1	0	0	0	0	1	0	0	0	9941	933	33	2	2115	2	MSH3	5	80063916	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	3731421	80063916	100851344	48	92956											
SLC23A1	9963	broad.mit.edu	37	chr5	138715753	138715753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgggagaagaggatgatCaggagaatggagctgggggc	12	6	19	4	0	1	4	1	1	0	3	1	8	1	6	0	6	2	1	0	6	3	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:138715753C>T	ENST00000353963.3	-	7	710	c.672G>A	c.(670-672)ctG>ctA	p.L224L	SLC23A1_ENST00000348729.3_Silent_p.L220L	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	220					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AGAGGATGATCAGGAGAATGG	0.592													9	12					0	0	0	0	T	138715753	C	T	138715753	2	4	482	1	0	0	0	0	0	0	0	1	14550	813	29	2		2	SLC23A1	5	138715753	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	58651837	138715753	42199507	49	92957											
PCDHA1	56147	broad.mit.edu	37	chr5	140168205	140168205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcagcccaggcctatCtccaagtcttaacacgtcag	9	9	8	15	1	4	0	2	0	2	0	5	0	4	0	4	2	2	0	4	2	3	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:140168205C>A	ENST00000504120.2	+	1	2330	c.2330C>A	c.(2329-2331)tCt>tAt	p.S777Y	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S777Y|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCCTATCTCCAAGTCTT	0.498													4	82					0.150653	0.150653	1	0	A	140168205	C	A	140168205	3	1	482	1	0	0	0	0	1	0	0	0	11590	913	32	2	2332	2	PCDHA1	5	140168205	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	1452452	140168205	40747055	50	92958											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762697	140762697	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacgcagcttttcgccctGaaccagcgcagcggcagctt	8	7	12	14	4	0	1	0	1	0	0	1	2	0	2	2	2	5	5	2	2	1	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:140762697G>C	ENST00000518325.1	+	1	231	c.231G>C	c.(229-231)ctG>ctC	p.L77L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCGCCCTGAACCAGCGCA	0.622													61	82					0	0	0	0	C	140762697	G	C	140762697	2	2	482	1	0	0	0	0	0	0	0	1	11630	1277	45	2		2	PCDHGA7	5	140762697	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	594492	140762697	40152563	51	92959											
ATP10B	23120	broad.mit.edu	37	chr5	160025845	160025845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcagagatgtctttgtCaaggactccaaagacaagag	13	10	10	8	0	3	3	1	0	2	3	4	5	4	4	1	1	1	1	1	1	3	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:160025845C>T	ENST00000327245.5	-	22	4342	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1166					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTCTTTGTCAAGGACTCCA	0.483													160	178					0	0	0	0	T	160025845	C	T	160025845	3	4	482	1	0	0	0	0	1	0	0	0	1121	826	29	2	909	2	ATP10B	5	160025845	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	19263148	160025845	20889415	52	92960											
MGAT1	4245	broad.mit.edu	37	chr5	180219180	180219180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagccagcccaggccaggGaaaaagtcggtgcggtagag	12	3	16	10	2	0	1	0	0	0	1	1	2	0	2	3	4	4	2	3	4	3	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:180219180G>A	ENST00000446023.2	-	3	1542	c.792C>T	c.(790-792)ttC>ttT	p.F264F	MGAT1_ENST00000333055.3_Silent_p.F264F|MGAT1_ENST00000427865.2_Silent_p.F264F|MGAT1_ENST00000393340.3_Silent_p.F264F|MGAT1_ENST00000307826.4_Silent_p.F264F	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	264					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCCAGGGAAAAAGTCGG	0.667													39	46					0	0	0	0	A	180219180	G	A	180219180	2	1	482	1	0	0	0	0	0	0	0	1	9611	1165	41	2		2	MGAT1	5	180219180	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	20193335	180219180	696080	53	92961											
TRIM38	10475	broad.mit.edu	37	chr6	25966997	25966997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggaagcctcattgaaGccctcaaagagacggatcaa	14	6	11	10	1	3	2	3	1	0	1	3	5	3	4	2	2	3	1	2	2	4	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:25966997G>A	ENST00000357085.3	+	3	723	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	TRIM38_ENST00000349458.3_Missense_Mutation_p.A83T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	83					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CCTCATTGAAGCCCTCAAAGA	0.542													22	40					0	0	0	0	A	25966997	G	A	25966997	3	1	482	1	0	0	0	0	1	0	0	0	16607	971	34	4	249	4	TRIM38	6	25966997	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		25966997	145148070	54	92962											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217210	26217210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaggaagccactatgtctgGacgtggaaagcaaggcggca	12	7	14	8	2	1	0	0	0	1	0	1	3	1	3	1	5	2	2	1	5	5	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:26217210G>A	ENST00000303910.2	+	1	46	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	3					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ACTATGTCTGGACGTGGAAAG	0.502													32	40					0	0	0	0	A	26217210	G	A	26217210	3	1	482	1	0	0	0	0	1	0	0	0	7182	1174	41	2	10	2	HIST1H2AE	6	26217210	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	250213	26217210	144897857	55	92963											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860798	27860798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccggcgcgccggccccgaCccgctcagcgtagttgccct	5	5	12	19	7	1	0	1	0	0	0	1	1	1	0	6	2	3	3	6	2	2	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:27860798C>G	ENST00000359611.2	-	1	165	c.130G>C	c.(130-132)Gtc>Ctc	p.V44L	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CCGGCCCCGACCCGCTCAGCG	0.657													49	98					0	0	0	0	G	27860798	C	G	27860798	3	3	482	1	0	0	0	0	1	0	0	0	7189	507	18	4	266	4	HIST1H2AM	6	27860798	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	1643588	27860798	143254269	56	92964											
DAXX	1616	broad.mit.edu	37	chr6	33288805	33288805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctctatgacacggccGgtcagtgaagagcagtcttt	8	10	12	11	3	3	3	1	2	2	1	3	3	3	3	1	2	2	3	1	2	2	2	rs140033328		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:33288805G>A	ENST00000374542.5	-	3	951	c.747C>T	c.(745-747)acC>acT	p.T249T	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.T174T|DAXX_ENST00000266000.6_Silent_p.T249T	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	249					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGACACGGCCGGTCAGTGAAG	0.582			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								35	59					0	0	0	0	A	33288805	G	A	33288805	2	1	482	1	0	0	0	0	0	0	0	1	4276	1103	39	1		1	DAXX	6	33288805	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	5428007	33288805	137826262	57	92965											
ETV7	51513	broad.mit.edu	37	chr6	36341235	36341235	+	Frame_Shift_Del	DEL	G	G	-																															agagagcttcctcaccttccGgggggactggagagtgctgg																										TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:36341235delG	ENST00000373738.1	-	3	1108	c.263delC	c.(262-264)cgfs	p.P88fs	ETV7_ENST00000340181.4_Frame_Shift_Del_p.P143fs|ETV7_ENST00000373737.4_Frame_Shift_Del_p.P143fs|ETV7_ENST00000538992.1_5'UTR|ETV7_ENST00000339796.5_Frame_Shift_Del_p.P143fs	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	143	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTCACCTTCCGGGGGGACTGG	0.597													2	4	---	---	---	---					-	36341235	G	-	36341235	7	5	482	1	0	1	0	1	0	0	0	0	5322	1116	39	0	617	0	ETV7	6	36341235	Frame_Shift_Del	DEL	G	TCGA-RS-A6TP-01A-12D-A34J-08	3052430	36341235	134773832	58	92966											
TBX18	9096	broad.mit.edu	37	chr6	85446921	85446921	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgagcctgttgtaggtctCtgccaaagatgtgctgtatc	7	13	13	8	0	1	2	0	1	1	1	3	2	1	2	2	2	3	4	2	2	3	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:85446921C>G	ENST00000369663.5	-	8	1643	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	436					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTGTAGGTCTCTGCCAAAGAT	0.612													35	9					0	0	0	0	G	85446921	C	G	85446921	3	3	482	1	0	0	0	0	1	0	0	0	15747	922	32	2	521	2	TBX18	6	85446921	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	49105686	85446921	85668146	59	92967											
ZNF292	23036	broad.mit.edu	37	chr6	87928350	87928350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatggagaatggcagctgtGaattgcattttttagctact	10	15	11	5	0	0	3	0	2	0	1	0	4	0	3	0	2	4	4	0	2	4	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:87928350G>A	ENST00000369577.3	+	4	482	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	ZNF292_ENST00000339907.4_Missense_Mutation_p.E147K|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGCAGCTGTGAATTGCATTT	0.383													3	1					0	0	0	0	A	87928350	G	A	87928350	3	1	482	1	0	0	0	0	1	0	0	0	17921	1291	45	2	453	2	ZNF292	6	87928350	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	2481429	87928350	83186717	60	92968											
USP42	84132	broad.mit.edu	37	chr7	6194321	6194321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagcgtggctggggcCgggagaagttctaccccgac	7	5	18	11	4	1	1	0	0	1	1	1	4	1	1	3	5	2	2	3	5	2	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:6194321C>T	ENST00000306177.5	+	15	3294	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1046	Arg-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGGCTGGGGCCGGGAGAAGTT	0.677													9	7					0	0	0	0	T	6194321	C	T	6194321	3	4	482	1	0	0	0	0	1	0	0	0	17169	643	23	1		1	USP42	7	6194321	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08		6194321	152944342	61	92969											
CREB5	9586	broad.mit.edu	37	chr7	28609991	28609991	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctctgggcagaatatctcGatgcataatgcagttggtgg	9	13	12	7	1	2	1	0	0	2	1	4	2	2	1	0	3	2	4	0	3	3	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:28609991G>A	ENST00000357727.2	+	5	690	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CREB5_ENST00000409603.1_Silent_p.S67S|CREB5_ENST00000396299.2_Silent_p.S67S|CREB5_ENST00000396300.2_Silent_p.S93S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	100					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGAATATCTCGATGCATAATG	0.517													6	115					0	0	0	0	A	28609991	G	A	28609991	2	1	482	1	0	0	0	0	0	0	0	1	3890	1045	37	1		1	CREB5	7	28609991	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	22415670	28609991	130528672	62	92970											
TRRAP	8295	broad.mit.edu	37	chr7	98515050	98515050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacccccttccctagggctGaacatgcttcagagtggcct	7	9	10	15	0	1	2	1	1	0	1	2	2	2	2	4	2	2	3	4	2	2	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:98515050G>A	ENST00000359863.4	+	20	2579	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	TRRAP_ENST00000446306.3_Silent_p.L789L|TRRAP_ENST00000355540.3_Silent_p.L790L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	790					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCTAGGGCTGAACATGCTTC	0.582													106	15					0	0	0	0	A	98515050	G	A	98515050	2	1	482	1	0	0	0	0	0	0	0	1	16696	1277	45	2		2	TRRAP	7	98515050	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	69905059	98515050	60623613	63	92971											
TRRAP	8295	broad.mit.edu	37	chr7	98606091	98606091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatctacaagcagcgctgCgccaagaagggcatcgagca	13	4	13	11	3	1	2	0	0	1	2	2	4	1	2	1	1	5	4	1	1	4	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:98606091C>T	ENST00000359863.4	+	69	11012	c.10803C>T	c.(10801-10803)tgC>tgT	p.C3601C	TRRAP_ENST00000446306.3_Silent_p.C3590C|TRRAP_ENST00000355540.3_Silent_p.C3572C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3601	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGCGCTGCGCCAAGAAGG	0.617													54	81					0	0	0	0	T	98606091	C	T	98606091	2	4	482	1	0	0	0	0	0	0	0	1	16696	776	27	1		1	TRRAP	7	98606091	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	91041	98606091	60532572	64	92972											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757693	99757693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggctcaatccactcCgaagtatatagcccaaaacc	12	8	8	13	1	1	0	1	0	0	0	3	1	3	0	4	2	2	2	4	2	7	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:99757693C>T	ENST00000360039.4	-	4	1711	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378Q|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440Q	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	440					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			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)					CAATCCACTCCGAAGTATATA	0.557													35	64					0	0	0	0	T	99757693	C	T	99757693	3	4	482	1	0	0	0	0	1	0	0	0	6249	652	23	1	145	1	GAL3ST4	7	99757693	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	1151602	99757693	59380970	65	92973											
SLC12A9	56996	broad.mit.edu	37	chr7	100463561	100463561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggccgacgccctcaagatGaacaagaatgtggtgctggc	10	7	14	10	2	1	3	1	1	0	2	1	4	1	3	2	3	2	1	2	3	4	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:100463561G>A	ENST00000354161.3	+	14	2204	c.2079G>A	c.(2077-2079)atG>atA	p.M693I		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	693						integral to membrane|plasma membrane	cation:chloride symporter activity			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)					CCCTCAAGATGAACAAGAATG	0.692													106	13					0	0	0	0	A	100463561	G	A	100463561	3	1	482	1	0	0	0	0	1	0	0	0	14478	1290	45	2	2129	2	SLC12A9	7	100463561	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	705868	100463561	58675102	66	92974											
NOS3	4846	broad.mit.edu	37	chr7	150710425	150710425	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcgcggggtgtttggCcgagtcctcaccgccttctc	4	9	13	15	4	2	0	1	0	1	0	4	1	3	0	4	3	2	2	4	3	0	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:150710425C>T	ENST00000297494.3	+	25	3570	c.3213C>T	c.(3211-3213)ggC>ggT	p.G1071G	ATG9B_ENST00000444312.1_3'UTR|NOS3_ENST00000461406.1_Silent_p.G865G|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000605938.1_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1071					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGGTGTTTGGCCGAGTCCTCA	0.617											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	75					0	0	0	0	T	150710425	C	T	150710425	2	4	482	1	0	0	0	0	0	0	0	1	10614	726	26	4		4	NOS3	7	150710425	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	50246864	150710425	8428238	67	92975											
MFHAS1	9258	broad.mit.edu	37	chr8	8747707	8747707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggttatggcttgccatgcGgtccatatatttggtaatga	8	14	13	6	1	0	1	0	1	0	0	1	1	1	1	2	5	2	3	2	5	4	6			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:8747707G>A	ENST00000276282.6	-	1	3448	c.2862C>T	c.(2860-2862)acC>acT	p.T954T		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	954										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTTGCCATGCGGTCCATATAT	0.522													48	73					0	0	0	0	A	8747707	G	A	8747707	2	1	482	1	0	0	0	0	0	0	0	1	9590	1103	39	1		1	MFHAS1	8	8747707	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		8747707	137616315	68	92976											
TEX15	56154	broad.mit.edu	37	chr8	30705086	30705086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcactattctctttagccTcattttggttttctctatct	7	20	4	10	0	4	0	1	0	3	0	6	0	4	0	1	1	2	2	1	1	4	9			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:30705086T>C	ENST00000256246.2	-	1	1522	c.1448A>G	c.(1447-1449)gAg>gGg	p.E483G		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	483										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTCTTTAGCCTCATTTTGGTT	0.328													6	243					0	0	0	0	C	30705086	T	C	30705086	3	2	482	1	0	0	0	0	1	0	0	0	15873	1551	54	5	6937	5	TEX15	8	30705086	Missense_Mutation	SNP	T	TCGA-RS-A6TP-01A-12D-A34J-08	21957379	30705086	115658936	69	92977											
C8orf34	116328	broad.mit.edu	37	chr8	69633616	69633616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attccttgcctgggactgaaGaagcactaatggaggagggt	11	9	14	7	0	0	2	0	1	0	1	1	5	1	5	2	4	2	1	2	4	3	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:69633616G>C	ENST00000337103.4	+	9	2607	c.1015G>C	c.(1015-1017)Gaa>Caa	p.E339Q	C8orf34_ENST00000325233.3_Missense_Mutation_p.E108Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E450Q|C8orf34_ENST00000539993.1_Missense_Mutation_p.E364Q			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	364					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGGACTGAAGAAGCACTAAT	0.294													20	39					0	0	0	0	C	69633616	G	C	69633616	3	2	482	1	0	0	0	0	1	0	0	0	2446	943	33	2	1049	2	C8orf34	8	69633616	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	38928530	69633616	76730406	70	92978											
EFR3A	23167	broad.mit.edu	37	chr8	133015481	133015481	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatttttttcttttttgcAggcaaatttgcttcatgata	10	20	5	6	0	2	1	1	1	1	0	2	1	2	1	0	1	3	3	0	1	3	9			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:133015481A>T	ENST00000254624.5	+	22	2535		c.e22-1		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000521940.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTTTTTTGCAGGCAAATTTG	0.294													4	104					0	0	0	0	T	133015481	A	T	133015481	5	4	482	1	0	0	0	0	0	0	1	0	4994	202	7	5	2395	5	EFR3A	8	133015481	Splice_Site	SNP	A	TCGA-RS-A6TP-01A-12D-A34J-08	63381865	133015481	13348541	71	92979											
PLEC	5339	broad.mit.edu	37	chr8	144995369	144995369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcacaggcccgtctcggggtCctccacgcagcgctccagta	6	6	12	17	4	1	0	0	0	1	0	5	0	4	0	4	3	1	4	4	3	1	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:144995369C>T	ENST00000322810.4	-	32	9200	c.9031G>A	c.(9031-9033)Gac>Aac	p.D3011N	PLEC_ENST00000356346.3_Missense_Mutation_p.D2860N|PLEC_ENST00000354958.2_Missense_Mutation_p.D2852N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2874N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2842N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2901N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2897N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2874N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2878N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3011	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCTCGGGGTCCTCCACGCAG	0.647													53	88					0	0	0	0	T	144995369	C	T	144995369	3	4	482	1	0	0	0	0	1	0	0	0	12124	855	30	2	5027	2	PLEC	8	144995369	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	11979888	144995369	1368653	72	92980											
KCNV2	169522	broad.mit.edu	37	chr9	2718032	2718032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccggccctgctgtccaCgctgaatgtgaacgtgggtg	5	9	13	14	3	0	2	0	2	0	0	2	2	2	2	4	2	2	2	4	2	2	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:2718032C>T	ENST00000382082.3	+	1	531	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	98						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGCTGTCCACGCTGAATGTG	0.682													12	14					0	0	0	0	T	2718032	C	T	2718032	3	4	482	1	0	0	0	0	1	0	0	0	8148	536	19	1	295	1	KCNV2	9	2718032	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08		2718032	138495399	73	92981											
RANBP6	26953	broad.mit.edu	37	chr9	6012686	6012686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacagttctctgtagcaatGacattttttttggttttgga	9	19	8	5	0	1	1	0	1	1	0	2	2	1	2	0	2	2	4	0	2	3	9			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:6012686G>A	ENST00000259569.5	-	1	2932	c.2922C>T	c.(2920-2922)gtC>gtT	p.V974V		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	974					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTGTAGCAATGACATTTTTTT	0.363													37	71					0	0	0	0	A	6012686	G	A	6012686	2	1	482	1	0	0	0	0	0	0	0	1	13113	1277	45	2		2	RANBP6	9	6012686	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	3294654	6012686	135200745	74	92982											
SUSD1	64420	broad.mit.edu	37	chr9	114886635	114886635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccctcttgacagacatagCgagccacaccgcccagcctg	10	5	9	17	2	1	2	0	1	1	1	1	3	1	2	5	0	4	0	5	0	1	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:114886635C>T	ENST00000374270.3	-	6	960	c.788G>A	c.(787-789)cGc>cAc	p.R263H	SUSD1_ENST00000374264.2_Missense_Mutation_p.R263H|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.R263H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	263	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACAGACATAGCGAGCCACACC	0.522													5	154					0	0	0	0	T	114886635	C	T	114886635	3	4	482	1	0	0	0	0	1	0	0	0	15497	768	27	1	1503	1	SUSD1	9	114886635	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	108873949	114886635	26326796	75	92983											
TTC16	158248	broad.mit.edu	37	chr9	130493404	130493404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaggctgctcgtggccGgagctggagacccagcaagg	8	5	17	11	2	1	1	1	0	0	1	2	3	1	2	2	6	3	4	2	6	2	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:130493404G>A	ENST00000373289.3	+	14	2422	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	781							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCTCGTGGCCGGAGCTGGAGA	0.622													3	18					0	0	0	0	A	130493404	G	A	130493404	3	1	482	1	0	0	0	0	1	0	0	0	16779	1116	39	1	2396	1	TTC16	9	130493404	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	15606769	130493404	10720027	76	92984											
ODF2	4957	broad.mit.edu	37	chr9	131246304	131246304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttcggtccaaagaggctGagaacagtcgcctgtgcatg	10	8	13	10	2	0	2	0	1	0	2	3	3	1	2	2	2	3	3	2	2	2	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:131246304G>A	ENST00000303890.5	+	13	1588	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	ODF2_ENST00000351030.3_Missense_Mutation_p.E354K|ODF2_ENST00000372791.3_Missense_Mutation_p.E340K|ODF2_ENST00000448249.3_Missense_Mutation_p.E278K|ODF2_ENST00000434106.2_Missense_Mutation_p.E359K|ODF2_ENST00000372807.5_Missense_Mutation_p.E354K|ODF2_ENST00000444119.2_Missense_Mutation_p.E335K|ODF2_ENST00000372814.3_Missense_Mutation_p.E403K|ODF2_ENST00000372796.4_Missense_Mutation_p.E359K|ODF2_ENST00000393533.2_Missense_Mutation_p.E359K|ODF2_ENST00000546203.1_Missense_Mutation_p.E340K	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	359					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAAAGAGGCTGAGAACAGTCG	0.557													42	42					0	0	0	0	A	131246304	G	A	131246304	3	1	482	1	0	0	0	0	1	0	0	0	10898	1291	45	2	1168	2	ODF2	9	131246304	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	752900	131246304	9967127	77	92985											
SLC34A3	142680	broad.mit.edu	37	chr9	140127032	140127032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgtcctcagagctcCgcgtggccggcaggctgcgc	3	7	15	16	4	1	1	1	0	0	1	3	1	3	1	4	3	2	3	4	3	0	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:140127032C>T	ENST00000538474.1	+	4	405	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	SLC34A3_ENST00000361134.2_Missense_Mutation_p.R61C	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	61					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCAGAGCTCCGCGTGGCCGG	0.682													38	50					0	0	0	0	T	140127032	C	T	140127032	3	4	482	1	0	0	0	0	1	0	0	0	14657	652	23	1	191	1	SLC34A3	9	140127032	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	8880728	140127032	1086399	78	92986											
SLC34A3	142680	broad.mit.edu	37	chr9	140127073	140127073	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgtggccggcagcgtcctCaaggcctgcgggctcctcgg	3	6	16	16	6	1	0	1	0	0	0	4	0	3	0	4	5	2	2	4	5	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:140127073C>G	ENST00000538474.1	+	4	446	c.222C>G	c.(220-222)ctC>ctG	p.L74L	SLC34A3_ENST00000361134.2_Silent_p.L74L	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	74					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGCGTCCTCAAGGCCTGCG	0.692													74	75					0	0	0	0	G	140127073	C	G	140127073	2	3	482	1	0	0	0	0	0	0	0	1	14657	813	29	2		2	SLC34A3	9	140127073	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	41	140127073	1086358	79	92987											
DIP2C	22982	broad.mit.edu	37	chr10	436214	436214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgactcacctcaatatacGcagtgtcgttattggcatct	9	13	8	11	2	3	1	2	1	1	0	4	1	3	1	1	1	1	4	1	1	4	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:436214G>A	ENST00000280886.6	-	12	1571	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DIP2C_ENST00000381496.3_Missense_Mutation_p.A388V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	495						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCAATATACGCAGTGTCGTT	0.517													15	98					0	0	0	0	A	436214	G	A	436214	3	1	482	1	0	0	0	0	1	0	0	0	4566	1087	38	1	3290	1	DIP2C	10	436214	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		436214	135098533	80	92988											
PITRM1	10531	broad.mit.edu	37	chr10	3180497	3180497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgggcctgcttcatctCatccgagaggccgtacaaga	8	10	11	12	2	3	2	2	0	2	2	5	3	4	2	3	2	2	2	3	2	2	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:3180497C>T	ENST00000380989.2	-	26	2991	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	PITRM1_ENST00000224949.4_Missense_Mutation_p.E984K|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.E886K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E542K	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	886					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGCTTCATCTCATCCGAGAGG	0.607													38	43					0	0	0	0	T	3180497	C	T	3180497	3	4	482	1	0	0	0	0	1	0	0	0	12025	835	29	2	171	2	PITRM1	10	3180497	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	2744283	3180497	132354250	81	92989											
ITGA8	8516	broad.mit.edu	37	chr10	15688893	15688893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgtgccatagcactacCgaatctcccaaacgtctcgg	11	9	8	13	3	2	0	0	0	2	0	4	1	2	0	3	1	4	1	3	1	5	3	rs142735096		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:15688893C>T	ENST00000378076.3	-	12	1512	c.1159G>A	c.(1159-1161)Ggt>Agt	p.G387S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	387					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATAGCACTACCGAATCTCCCA	0.478													24	52					0	0	0	0	T	15688893	C	T	15688893	3	4	482	1	0	0	0	0	1	0	0	0	7935	652	23	1	2108	1	ITGA8	10	15688893	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	12508396	15688893	119845854	82	92990											
SEC24C	9632	broad.mit.edu	37	chr10	75530782	75530782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggtggaagacaagagtCtgagtgggggagcatcttat	10	10	15	6	0	2	3	0	1	2	2	3	5	3	5	1	4	1	1	1	4	3	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:75530782C>G	ENST00000339365.2	+	24	3376	c.3214C>G	c.(3214-3216)Ctg>Gtg	p.L1072V	SEC24C_ENST00000540668.1_Missense_Mutation_p.L320V|SEC24C_ENST00000345254.4_Missense_Mutation_p.L1072V|SEC24C_ENST00000535742.1_Missense_Mutation_p.L320V|SEC24C_ENST00000411652.2_Missense_Mutation_p.L953V	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1072					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGACAAGAGTCTGAGTGGGGG	0.493													90	117					0	0	0	0	G	75530782	C	G	75530782	3	3	482	1	0	0	0	0	1	0	0	0	14083	912	32	2	3300	2	SEC24C	10	75530782	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	59841889	75530782	60003965	83	92991											
PIK3AP1	118788	broad.mit.edu	37	chr10	98386580	98386580	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagaaaaggcctcatcGtcatccaccgtgtgataaac	13	8	7	13	2	2	2	2	1	0	1	5	2	4	2	4	1	1	0	4	1	4	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:98386580G>A	ENST00000339364.5	-	10	1673	c.1554C>T	c.(1552-1554)gaC>gaT	p.D518D	PIK3AP1_ENST00000371110.2_Silent_p.D340D|PIK3AP1_ENST00000371109.3_Silent_p.D117D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	518						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGCCTCATCGTCATCCACCG	0.552													41	66					0	0	0	0	A	98386580	G	A	98386580	2	1	482	1	0	0	0	0	0	0	0	1	11980	1136	40	1		1	PIK3AP1	10	98386580	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	22855798	98386580	37148167	84	92992											
SLIT1	6585	broad.mit.edu	37	chr10	98760970	98760970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacttcctccgcttcagccGaaggccctggcagcagccct	7	7	10	17	2	1	0	1	0	0	0	3	2	3	0	5	2	4	3	5	2	2	2	rs147599893		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:98760970G>A	ENST00000266058.4	-	37	4749	c.4504C>T	c.(4504-4506)Cgg>Tgg	p.R1502W	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.F1460F	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1502	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCTTCAGCCGAAGGCCCTGG	0.647													5	155					0	0	0	0	A	98760970	G	A	98760970	3	1	482	1	0	0	0	0	1	0	0	0	14827	1057	37	1	104	1	SLIT1	10	98760970	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	374390	98760970	36773777	85	92993											
NRAP	4892	broad.mit.edu	37	chr10	115389442	115389442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttcctgtagtccaggtCactggcgagagtttgggcct	5	14	12	10	1	2	1	1	0	1	1	4	2	4	1	3	3	0	2	3	3	1	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:115389442C>T	ENST00000369358.4	-	19	2213	c.1969G>A	c.(1969-1971)Gac>Aac	p.D657N	NRAP_ENST00000369360.3_Missense_Mutation_p.D622N|NRAP_ENST00000359988.3_Missense_Mutation_p.D649N|NRAP_ENST00000360478.3_Missense_Mutation_p.D614N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	649						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TAGTCCAGGTCACTGGCGAGA	0.493													41	66					0	0	0	0	T	115389442	C	T	115389442	3	4	482	1	0	0	0	0	1	0	0	0	10709	826	29	2	3343	2	NRAP	10	115389442	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	16628472	115389442	20145305	86	92994											
PAMR1	25891	broad.mit.edu	37	chr11	35515735	35515735	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctctttccggggcagacGcactcaatctgatcatattc	8	12	7	14	2	4	2	2	1	2	1	7	2	6	2	2	2	0	2	2	2	2	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:35515735G>A	ENST00000378880.2	-	2	604	c.159C>T	c.(157-159)tgC>tgT	p.C53C	PAMR1_ENST00000278360.3_Silent_p.C53C|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Silent_p.C13C|PAMR1_ENST00000378878.3_Silent_p.C53C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	53	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CGGGGCAGACGCACTCAATCT	0.507													5	145					0	0	0	0	A	35515735	G	A	35515735	2	1	482	1	0	0	0	0	0	0	0	1	11484	1079	38	1		1	PAMR1	11	35515735	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		35515735	99490781	87	92995											
MTCH2	23788	broad.mit.edu	37	chr11	47660546	47660546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagaccaggaagctgacAcacttgccgcccaaaaatat	17	5	8	11	1	0	2	0	1	0	1	0	4	0	3	3	1	2	1	3	1	5	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:47660546A>G	ENST00000302503.3	-	2	302	c.145T>C	c.(145-147)Tgt>Cgt	p.C49R	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	49					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGAAGCTGACACACTTGCCGC	0.383													43	56					0	0	0	0	G	47660546	A	G	47660546	3	3	482	1	0	0	0	0	1	0	0	0	9984	159	6	5	814	5	MTCH2	11	47660546	Missense_Mutation	SNP	A	TCGA-RS-A6TP-01A-12D-A34J-08	12144811	47660546	87345970	88	92996											
OR5A1	219982	broad.mit.edu	37	chr11	59211536	59211536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacagtttgaggaacaaaGagatcaaggatgccctgtgg	13	10	12	6	0	1	2	1	1	0	1	1	5	1	4	1	3	3	1	1	3	4	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:59211536G>C	ENST00000302030.2	+	1	920	c.895G>C	c.(895-897)Gag>Cag	p.E299Q		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GAGGAACAAAGAGATCAAGGA	0.433													80	131					0	0	0	0	C	59211536	G	C	59211536	3	2	482	1	0	0	0	0	1	0	0	0	11210	943	33	2	897	2	OR5A1	11	59211536	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	11550990	59211536	75794980	89	92997											
AHNAK	79026	broad.mit.edu	37	chr11	62284339	62284339	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggccagggacaccccactCccctgtaacttgcctgtctc	7	8	9	17	0	1	0	0	0	1	0	3	2	2	1	6	2	2	1	6	2	1	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:62284339C>G	ENST00000378024.4	-	5	17824	c.17550G>C	c.(17548-17550)ggG>ggC	p.G5850G	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5850					nervous system development	nucleus	protein binding			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)				ACACCCCACTCCCCTGTAACT	0.532													91	127					0	0	0	0	G	62284339	C	G	62284339	2	3	482	1	0	0	0	0	0	0	0	1	414	842	30	2		2	AHNAK	11	62284339	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	3072803	62284339	72722177	90	92998											
DHCR7	1717	broad.mit.edu	37	chr11	71146832	71146832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggcccagcagcaggacGcccacggcgtgcggggtgga	8	2	17	14	4	0	0	0	0	0	0	0	2	0	2	3	6	3	2	3	6	0	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:71146832G>A	ENST00000355527.3	-	9	1293	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	DHCR7_ENST00000407721.2_Silent_p.G339G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	339					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCAGCAGGACGCCCACGGCGT	0.677									Smith-Lemli-Opitz syndrome				22	36					0	0	0	0	A	71146832	G	A	71146832	2	1	482	1	0	0	0	0	0	0	0	1	4514	1074	38	1		1	DHCR7	11	71146832	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	8862493	71146832	63859684	91	92999											
FOLH1B	219595	broad.mit.edu	37	chr11	89403521	89403522	+	RNA	INS	-	-	T																															tgttaaccagttttgttttgINSttttttttcaaagaatgtct																										TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:89403521_89403522insT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTTTGTTTTGTTTTTTTTCAA	0.332													31	40	---	---	---	---					T	89403522	-	T	89403521	6	5	482	0	1	1	1	0	0	0	0	0	6025	1392	48	0		0	FOLH1B	11	89403521	RNA	INS	-	TCGA-RS-A6TP-01A-12D-A34J-08	18256689	89403521	45602995	92	93000											
SORL1	6653	broad.mit.edu	37	chr11	121474984	121474984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtgctctcggagcgctgCgacggcttcctggactgctc	4	11	13	13	4	1	0	0	0	1	0	4	3	2	2	1	3	4	4	1	3	0	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:121474984C>T	ENST00000260197.7	+	33	4731	c.4602C>T	c.(4600-4602)tgC>tgT	p.C1534C	SORL1_ENST00000525532.1_Silent_p.C478C|SORL1_ENST00000532694.1_Silent_p.C380C|SORL1_ENST00000527934.1_Silent_p.C149C|SORL1_ENST00000534286.1_Silent_p.C444C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1534	LDL-receptor class A 11.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGGAGCGCTGCGACGGCTTCC	0.647													55	8					0	0	0	0	T	121474984	C	T	121474984	2	4	482	1	0	0	0	0	0	0	0	1	15022	776	27	1		1	SORL1	11	121474984	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	32071463	121474984	13531532	93	93001											
SLC6A12	6539	broad.mit.edu	37	chr12	302467	302467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagtccaggggtcaggaaGagccaggagatcttcaccag	13	5	13	10	0	3	2	2	0	1	2	4	4	4	3	3	4	1	0	3	4	2	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:302467G>A	ENST00000428720.1	-	14	2249	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	SLC6A12_ENST00000536824.1_Silent_p.L502L|SLC6A12_ENST00000424061.2_Silent_p.L502L|SLC6A12_ENST00000397296.2_Silent_p.L502L|SLC6A12_ENST00000359674.4_Silent_p.L502L|RP11-283I3.1_ENST00000544067.1_RNA	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	502					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGGTCAGGAAGAGCCAGGAGA	0.592													31	11					0	0	0	0	A	302467	G	A	302467	2	1	482	1	0	0	0	0	0	0	0	1	14763	929	33	2		2	SLC6A12	12	302467	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		302467	133549428	94	93002											
CAPRIN2	65981	broad.mit.edu	37	chr12	30884369	30884369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggtacttccttttccttgGcatttttgggaactgggata	6	17	11	7	0	0	0	0	0	0	0	2	2	2	2	2	4	2	2	2	4	3	8			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:30884369G>A	ENST00000251071.5	-	6	1718	c.968C>T	c.(967-969)gCc>gTc	p.A323V	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A323V|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A323V|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A323V	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	323					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTTTCCTTGGCATTTTTGGG	0.363													38	25					0	0	0	0	A	30884369	G	A	30884369	3	1	482	1	0	0	0	0	1	0	0	0	2661	1203	42	4	2467	4	CAPRIN2	12	30884369	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	30581902	30884369	102967526	95	93003											
DDN	23109	broad.mit.edu	37	chr12	49392030	49392030	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcggtcccggcagaacctCtcagcagcaggtgagcctcg	7	5	15	14	3	1	2	1	1	1	1	4	2	2	2	3	4	4	3	3	4	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:49392030C>G	ENST00000421952.2	-	2	650	c.629G>C	c.(628-630)aGa>aCa	p.R210T		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	210	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGCAGAACCTCTCAGCAGCAG	0.726													19	22					0	0	0	0	G	49392030	C	G	49392030	3	3	482	1	0	0	0	0	1	0	0	0	4365	913	32	2	1510	2	DDN	12	49392030	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	18507661	49392030	84459865	96	93004											
CNOT2	4848	broad.mit.edu	37	chr12	70729300	70729300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagggaaggaagtggtaaCccaactccattaataaaccc	16	6	10	9	0	0	0	0	0	0	0	1	3	1	3	3	4	3	1	3	4	7	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:70729300C>A	ENST00000229195.3	+	8	1311	c.732C>A	c.(730-732)aaC>aaA	p.N244K	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.N244K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	244					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAAGTGGTAACCCAACTCCAT	0.413													55	90					9.79885e-19	1.02249e-18	1	0	A	70729300	C	A	70729300	3	1	482	1	0	0	0	0	1	0	0	0	3649	506	18	4	758	4	CNOT2	12	70729300	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	21337270	70729300	63122595	97	93005											
MLXIP	22877	broad.mit.edu	37	chr12	122617948	122617948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagccttcctgacagcctCatcgcgccccctaccgcccc	5	7	8	21	3	1	2	1	2	0	0	3	2	2	2	8	0	3	0	8	0	1	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:122617948C>T	ENST00000319080.6	+	9	1278	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	MLXIP_ENST00000538698.1_5'UTR			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	382	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTGACAGCCTCATCGCGCCCC	0.607													48	69					0	0	0	0	T	122617948	C	T	122617948	2	4	482	1	0	0	0	0	0	0	0	1	9705	813	29	2		2	MLXIP	12	122617948	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	51888648	122617948	11233947	98	93006											
MLXIP	22877	broad.mit.edu	37	chr12	122618381	122618381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgtgggctggcactgtctCctgtcacccggcctccccag	3	10	11	17	1	2	0	1	0	1	0	4	0	3	0	5	3	0	2	5	3	0	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:122618381C>T	ENST00000319080.6	+	9	1711	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	MLXIP_ENST00000538698.1_Missense_Mutation_p.P134S|MLXIP_ENST00000377037.2_Missense_Mutation_p.P117S			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGCACTGTCTCCTGTCACCCG	0.627													14	22					0	0	0	0	T	122618381	C	T	122618381	3	4	482	1	0	0	0	0	1	0	0	0	9705	855	30	2	1613	2	MLXIP	12	122618381	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	433	122618381	11233514	99	93007											
FREM2	341640	broad.mit.edu	37	chr13	39263204	39263204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgacactggcagagggtGaaacagtgcccatcctgccc	9	6	13	13	0	0	3	0	2	0	1	1	3	1	3	3	3	3	2	3	3	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr13:39263204G>A	ENST00000280481.7	+	1	1939	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	575					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCAGAGGGTGAAACAGTGCC	0.537													22	43					0	0	0	0	A	39263204	G	A	39263204	3	1	482	1	0	0	0	0	1	0	0	0	6093	1291	45	2	1725	2	FREM2	13	39263204	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		39263204	75906674	100	93008											
SUPT16H	11198	broad.mit.edu	37	chr14	21825383	21825383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attccttgatggggtcaagaGaggctacaggaatggcgttg	10	10	15	6	1	1	2	1	1	0	1	2	4	2	3	1	5	1	2	1	5	3	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:21825383G>C	ENST00000216297.2	-	22	2971	c.2633C>G	c.(2632-2634)tCt>tGt	p.S878C		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	878					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGGGTCAAGAGAGGCTACAGG	0.433													19	42					0	0	0	0	C	21825383	G	C	21825383	3	2	482	1	0	0	0	0	1	0	0	0	15486	942	33	2	530	2	SUPT16H	14	21825383	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		21825383	85524157	101	93009											
HECTD1	25831	broad.mit.edu	37	chr14	31644226	31644226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgataccacagccatagcaGagtgcaaggtgtctttatga	12	11	10	8	0	1	3	0	2	1	1	1	3	1	3	2	1	4	2	2	1	4	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:31644226G>A	ENST00000399332.1	-	4	982	c.494C>T	c.(493-495)tCt>tTt	p.S165F	HECTD1_ENST00000553700.1_Missense_Mutation_p.S165F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	165					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.S165C(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGCCATAGCAGAGTGCAAGGT	0.418													56	71					0	0	0	0	A	31644226	G	A	31644226	3	1	482	1	0	0	0	0	1	0	0	0	7089	942	33	2	7498	2	HECTD1	14	31644226	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	9818843	31644226	75705314	102	93010											
CTAGE5	4253	broad.mit.edu	37	chr14	39818085	39818085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cattcttgagaagaggacctCctttccccccacctcctcca	8	10	5	18	0	1	2	0	1	1	2	5	4	5	3	8	1	0	0	8	1	1	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:39818085C>G	ENST00000553728.1	+	27	3970	c.3757C>G	c.(3757-3759)Cct>Gct	p.P1253A	CTAGE5_ENST00000556148.1_Missense_Mutation_p.P643A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P718A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P706A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P638A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P689A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P723A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P675A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P718A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000553383.1_3'UTR																							AAGAGGACCTCCTTTCCCCCC	0.532													11	231					0	0	0	0	G	39818085	C	G	39818085	3	3	482	1	0	0	0	0	1	0	0	0	4026	855	30	2	2273	2	CTAGE5	14	39818085	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	8173859	39818085	67531455	103	93011											
KCNH5	27133	broad.mit.edu	37	chr14	63416882	63416882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatagccaccgaaaacatCttctccacatctgtggtagg	12	10	7	12	1	4	0	1	0	3	0	5	1	4	0	3	2	2	1	3	2	4	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:63416882C>G	ENST00000322893.7	-	7	1606	c.1338G>C	c.(1336-1338)aaG>aaC	p.K446N	KCNH5_ENST00000394968.1_Missense_Mutation_p.K388N|KCNH5_ENST00000420622.2_Missense_Mutation_p.K446N|KCNH5_ENST00000394964.2_Missense_Mutation_p.K388N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	446					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGAAAACATCTTCTCCACAT	0.383													67	88					0	0	0	0	G	63416882	C	G	63416882	3	3	482	1	0	0	0	0	1	0	0	0	8088	912	32	2	1682	2	KCNH5	14	63416882	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	23598797	63416882	43932658	104	93012											
PCNX	22990	broad.mit.edu	37	chr14	71445160	71445160	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagtagcatgtttgaaTgactcaaacaggttaatggc	13	10	11	7	0	1	2	1	2	0	0	1	2	1	2	0	3	2	5	0	3	4	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:71445160T>G	ENST00000304743.2	+	6	2552	c.2106T>G	c.(2104-2106)aaT>aaG	p.N702K	PCNX_ENST00000238570.5_Missense_Mutation_p.N702K|PCNX_ENST00000439984.3_Missense_Mutation_p.N702K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	702						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATGTTTGAATGACTCAAACA	0.473													62	72					0	0	0	0	G	71445160	T	G	71445160	3	3	482	1	0	0	0	0	1	0	0	0	11662	1461	51	5	2128	5	PCNX	14	71445160	Missense_Mutation	SNP	T	TCGA-RS-A6TP-01A-12D-A34J-08	8028278	71445160	35904380	105	93013											
SLC24A4	123041	broad.mit.edu	37	chr14	92915514	92915514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctggtaatgatttCtatgacggtagctatgatga	10	13	13	5	1	1	4	0	4	1	0	1	5	1	5	0	4	1	4	0	4	4	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:92915514C>A	ENST00000532405.1	+	10	1060	c.834C>A	c.(832-834)ttC>ttA	p.F278L	SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F261L|SLC24A4_ENST00000531433.1_Intron|SLC24A4_ENST00000393265.2_Missense_Mutation_p.F214L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	278						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTAATGATTTCTATGACGGTA	0.502													24	47					1.66031e-10	1.71386e-10	1	0	A	92915514	C	A	92915514	3	1	482	1	0	0	0	0	1	0	0	0	14556	912	32	2	821	2	SLC24A4	14	92915514	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	21470354	92915514	14434026	106	93014											
NUDT14	256281	broad.mit.edu	37	chr14	105643040	105643040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggctggctgtagctcccGaggcccgtcctggtctacag	5	8	14	14	2	1	0	0	0	1	0	3	1	3	0	3	4	2	4	3	4	2	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:105643040G>A	ENST00000392568.2	-	4	352	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	87	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	p.R87G(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGTAGCTCCCGAGGCCCGTCC	0.667										HNSCC(42;0.11)			47	48					0	0	0	0	A	105643040	G	A	105643040	3	1	482	1	0	0	0	0	1	0	0	0	10801	1057	37	1	417	1	NUDT14	14	105643040	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	12727526	105643040	1706500	107	93015											
ODF3L1	161753	broad.mit.edu	37	chr15	76019645	76019645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacaaggaggatgtggcaGgaggccctggacctaccacg	10	6	14	11	1	1	0	0	0	1	0	1	4	1	4	3	6	2	1	3	6	3	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:76019645G>A	ENST00000332145.2	+	4	812	c.589G>A	c.(589-591)Gga>Aga	p.G197R		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	197										kidney(1)|lung(1)	2						GGATGTGGCAGGAGGCCCTGG	0.612													29	41					0	0	0	0	A	76019645	G	A	76019645	3	1	482	1	0	0	0	0	1	0	0	0	10902	1001	35	4	603	4	ODF3L1	15	76019645	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		76019645	26511747	108	93016											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164921	85164921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagaggatccacacgggaGagaaaccctacaaatgcagc	16	3	10	12	1	0	2	0	0	0	2	1	5	1	4	3	2	4	1	3	2	3	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:85164921G>C	ENST00000448803.2	+	3	1787	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E349Q|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E499Q|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E498Q|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	499					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCACACGGGAGAGAAACCCTA	0.592													6	136					0	0	0	0	C	85164921	G	C	85164921	3	2	482	1	0	0	0	0	1	0	0	0	18323	943	33	2	1591	2	ZSCAN2	15	85164921	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	9145276	85164921	17366471	109	93017											
PDE8A	5151	broad.mit.edu	37	chr15	85664082	85664082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgcagccaccattcatGatgtggatcaccctgggaga	10	9	10	12	1	3	2	3	1	0	1	4	4	3	3	3	2	1	1	3	2	0	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:85664082G>T	ENST00000310298.4	+	19	2041	c.1789G>T	c.(1789-1791)Gat>Tat	p.D597Y	PDE8A_ENST00000339708.5_Missense_Mutation_p.D551Y|PDE8A_ENST00000557957.1_Missense_Mutation_p.D525Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.D597Y			O60658	PDE8A_HUMAN	phosphodiesterase 8A	597	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CACCATTCATGATGTGGATCA	0.483													10	193					0.000978159	0.000988455	1	0	T	85664082	G	T	85664082	3	4	482	1	0	0	0	0	1	0	0	0	11724	1290	45	2	1859	2	PDE8A	15	85664082	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	499161	85664082	16867310	110	93018											
LRRK1	79705	broad.mit.edu	37	chr15	101606073	101606073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccaaaggtgcctgaggggGactccatcgcggacgtgagc	9	5	15	12	3	0	2	0	2	0	0	2	4	1	4	3	4	2	0	3	4	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:101606073G>A	ENST00000284395.5	+	33	5822	c.5422G>A	c.(5422-5424)Gac>Aac	p.D1808N	LRRK1_ENST00000388948.3_Missense_Mutation_p.D1811N|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1811					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCTGAGGGGGACTCCATCGC	0.632													27	38					0	0	0	0	A	101606073	G	A	101606073	3	1	482	1	0	0	0	0	1	0	0	0	9096	1174	41	2	5553	2	LRRK1	15	101606073	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	15941991	101606073	925319	111	93019											
VASN	114990	broad.mit.edu	37	chr16	4431562	4431562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgtccgacaaccagctGgagcgagtgccacctgtgat	9	8	13	11	2	0	1	0	1	0	0	1	5	1	2	4	1	4	1	4	1	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:4431562G>A	ENST00000304735.3	+	2	839	c.684G>A	c.(682-684)ctG>ctA	p.L228L	CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	228						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						ACAACCAGCTGGAGCGAGTGC	0.711													5	10					0	0	0	0	A	4431562	G	A	4431562	2	1	482	1	0	0	0	0	0	0	0	1	17223	1335	47	4		4	VASN	16	4431562	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		4431562	85923191	112	93020											
PARN	5073	broad.mit.edu	37	chr16	14540841	14540841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatcggtctgctcaagctCagtgtcggaaatctcccctg	8	10	11	12	2	4	0	2	0	2	0	7	2	4	2	2	3	2	2	2	3	3	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:14540841C>T	ENST00000437198.2	-	23	1909	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	PARN_ENST00000420015.2_Missense_Mutation_p.E544K|PARN_ENST00000341484.7_Missense_Mutation_p.E529K|PARN_ENST00000539279.1_Missense_Mutation_p.E415K	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	590					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	p.E590Q(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGCTCAAGCTCAGTGTCGGAA	0.493													49	72					0	0	0	0	T	14540841	C	T	14540841	3	4	482	1	0	0	0	0	1	0	0	0	11524	835	29	2	159	2	PARN	16	14540841	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	10109279	14540841	75813912	113	93021											
OTOA	146183	broad.mit.edu	37	chr16	21728274	21728274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcatcgtggagatacaagGggctttctttaaggaagtgt	11	11	14	5	1	1	1	0	0	1	1	2	3	1	2	0	5	1	2	0	5	4	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:21728274G>T	ENST00000388958.3	+	14	1536	c.1535G>T	c.(1534-1536)gGg>gTg	p.G512V	OTOA_ENST00000388957.3_Missense_Mutation_p.G188V|OTOA_ENST00000388956.4_Missense_Mutation_p.G433V|OTOA_ENST00000286149.4_Missense_Mutation_p.G526V	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	526					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGATACAAGGGGCTTTCTTT	0.453													95	132					8.13309e-56	8.6753e-56	1	0	T	21728274	G	T	21728274	3	4	482	1	0	0	0	0	1	0	0	0	11373	1232	43	4	1635	4	OTOA	16	21728274	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	7187433	21728274	68626479	114	93022											
ZNF747	65988	broad.mit.edu	37	chr16	30544358	30544358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggacagctgctccaacccgGcaaagggggcttggggagcc	8	5	16	12	1	0	0	0	0	0	0	1	2	1	2	3	6	4	4	3	6	2	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:30544358G>A	ENST00000535210.1	-	3	627	c.455C>T	c.(454-456)gCc>gTc	p.A152V	ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V|ZNF747_ENST00000569360.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR			Q9BV97	ZN747_HUMAN	zinc finger protein 747	40					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CTCCAACCCGGCAAAGGGGGC	0.682													4	69					0	0	0	0	A	30544358	G	A	30544358	3	1	482	1	0	0	0	0	1	0	0	0	18224	1218	42	4		4	ZNF747	16	30544358	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	8816084	30544358	59810395	115	93023											
NLRC5	84166	broad.mit.edu	37	chr16	57074583	57074583	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcatttcttgacagcctCatgctccagatgccctctga	7	12	8	14	0	3	3	1	2	2	1	4	3	4	3	3	0	4	3	3	0	0	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:57074583C>G	ENST00000436936.1	+	17	3117	c.2892C>G	c.(2890-2892)ctC>ctG	p.L964L	NLRC5_ENST00000539144.1_Silent_p.L964L|NLRC5_ENST00000308149.7_Silent_p.L964L|NLRC5_ENST00000262510.6_Silent_p.L964L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	964					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTGACAGCCTCATGCTCCAGA	0.602													38	51					0	0	0	0	G	57074583	C	G	57074583	2	3	482	1	0	0	0	0	0	0	0	1	10540	813	29	2		2	NLRC5	16	57074583	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	26530225	57074583	33280170	116	93024											
HAS3	3038	broad.mit.edu	37	chr16	69143614	69143614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actacttgcgcaagtgcctgCgctcggcccagcgcatctcc	6	8	10	17	4	1	0	0	0	1	0	3	0	1	0	3	1	5	3	3	1	2	2	rs146829742		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:69143614C>T	ENST00000306560.1	+	2	472	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	HAS3_ENST00000219322.3_Missense_Mutation_p.R106C|HAS3_ENST00000569188.1_Missense_Mutation_p.R106C	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	106					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAAGTGCCTGCGCTCGGCCCA	0.657													33	36					0	0	0	0	T	69143614	C	T	69143614	3	4	482	1	0	0	0	0	1	0	0	0	7013	768	27	1	318	1	HAS3	16	69143614	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	12069031	69143614	21211139	117	93025											
MTSS1L	92154	broad.mit.edu	37	chr16	70713746	70713746	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccagtcctcgatgcgctCctgcagcgggttgatgaggc	5	10	13	13	3	0	2	0	2	0	0	4	3	3	2	3	2	3	3	3	2	0	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:70713746C>A	ENST00000338779.6	-	5	599	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	109	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGATGCGCTCCTGCAGCGGG	0.736													10	20					9.31168e-06	9.5098e-06	1	0	A	70713746	C	A	70713746	4	1	482	1	0	0	0	0	0	1	0	0	10033	864	30	2	1962	2	MTSS1L	16	70713746	Nonsense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	1570132	70713746	19641007	118	93026											
NEURL4	84461	broad.mit.edu	37	chr17	7230030	7230030	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaggactttgcacacCtcaaacatctcattgtcccg	11	9	6	15	1	2	0	2	0	1	0	4	2	3	1	3	1	2	1	3	1	1	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:7230030C>G	ENST00000399464.2	-	4	1107	c.1092_splice	c.e4+1	p.E364_splice	NEURL4_ENST00000315614.7_Splice_Site_p.E364_splice|NEURL4_ENST00000570460.1_Splice_Site_p.E342_splice	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTGCACACCTCAAACATCT	0.557													12	27					0	0	0	0	G	7230030	C	G	7230030	5	3	482	1	0	0	0	0	0	0	1	0	10417	695	24	4	3700	4	NEURL4	17	7230030	Splice_Site	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08		7230030	73965180	119	93027											
BLMH	642	broad.mit.edu	37	chr17	28618498	28618498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggaattcagtttctgtatCagagcagctaccttctccga	9	13	8	11	2	4	1	2	0	2	1	6	3	4	2	2	1	3	4	2	1	3	5			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:28618498C>T	ENST00000261714.6	-	2	216	c.42G>A	c.(40-42)ctG>ctA	p.L14L	BLMH_ENST00000394819.3_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	14					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GTTTCTGTATCAGAGCAGCTA	0.567													49	61					0	0	0	0	T	28618498	C	T	28618498	2	4	482	1	0	0	0	0	0	0	0	1	1451	813	29	2		2	BLMH	17	28618498	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	21388468	28618498	52576712	120	93028											
HDAC5	10014	broad.mit.edu	37	chr17	42170772	42170772	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctgctgctcccgctGccgctgctgctccagctcct	1	10	10	20	3	0	0	0	0	0	0	3	0	3	0	5	0	7	8	5	0	0	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:42170772G>A	ENST00000225983.6	-	5	762	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	HDAC5_ENST00000393622.2_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000336057.5_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000586802.1_Nonsense_Mutation_p.Q146*			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	146				R -> G (in Ref. 6; BX458255).	B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		tgctcccgctgccgctgctgc	0.642													11	16					0	0	0	0	A	42170772	G	A	42170772	4	1	482	1	0	0	0	0	0	1	0	0	7060	1328	46	4	3024	4	HDAC5	17	42170772	Nonsense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	13552274	42170772	39024438	121	93029											
ITGB3	3690	broad.mit.edu	37	chr17	45364505	45364505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgccaagactcatataGcattggacggaaggctggca	12	8	12	9	1	1	2	1	1	0	1	1	4	1	4	1	4	2	3	1	4	4	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:45364505G>C	ENST00000559488.1	+	6	863	c.847G>C	c.(847-849)Gca>Cca	p.A283P	ITGB3_ENST00000435993.2_Missense_Mutation_p.A236P|ITGB3_ENST00000571680.1_Missense_Mutation_p.A283P|ITGB3_ENST00000560629.1_Missense_Mutation_p.S271T	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	283	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GACTCATATAGCATTGGACGG	0.463													66	75					0	0	0	0	C	45364505	G	C	45364505	3	2	482	1	0	0	0	0	1	0	0	0	7948	971	34	4	869	4	ITGB3	17	45364505	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	3193733	45364505	35830705	122	93030											
CALCOCO2	10241	broad.mit.edu	37	chr17	46929948	46929948	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagagcagttagagcagctGaaaaaggaaaatgaccacct	18	5	10	8	0	0	4	0	2	0	2	0	5	0	5	2	1	3	4	2	1	5	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:46929948G>A	ENST00000258947.3	+	8	884	c.783G>A	c.(781-783)ctG>ctA	p.L261L	CALCOCO2_ENST00000508679.1_Silent_p.L189L|CALCOCO2_ENST00000448105.2_Silent_p.L285L|CALCOCO2_ENST00000509507.1_Silent_p.L282L|CALCOCO2_ENST00000416445.2_Silent_p.L219L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	261					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TAGAGCAGCTGAAAAAGGAAA	0.388													49	40					0	0	0	0	A	46929948	G	A	46929948	2	1	482	1	0	0	0	0	0	0	0	1	2603	1277	45	2		2	CALCOCO2	17	46929948	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	1565443	46929948	34265262	123	93031											
MPO	4353	broad.mit.edu	37	chr17	56348162	56348162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagatgatccggggcaatGagatctgggccagggcctgt	8	7	16	10	2	1	3	0	2	1	2	2	4	2	3	3	4	0	2	3	4	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:56348162G>A	ENST00000340482.3	-	11	2365	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L	MPO_ENST00000225275.3_Missense_Mutation_p.S698L			P05164	PERM_HUMAN	myeloperoxidase	698					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCGGGGCAATGAGATCTGGGC	0.547													24	25					0	0	0	0	A	56348162	G	A	56348162	3	1	482	1	0	0	0	0	1	0	0	0	9802	1294	45	2	148	2	MPO	17	56348162	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	9418214	56348162	24847048	124	93032											
SKA2	348235	broad.mit.edu	37	chr17	57196839	57196839	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcactgacaattcctttaaGagtgtaactggatttttcta	12	16	6	7	0	2	2	1	1	1	1	3	3	3	3	1	1	1	1	1	1	4	7			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:57196839G>C	ENST00000330137.7	-	3	243	c.138C>G	c.(136-138)ctC>ctG	p.L46L	SKA2_ENST00000583927.1_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000583380.1_Silent_p.L46L|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000578105.1_Silent_p.L17L	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	46					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			lung(4)	4						ATTCCTTTAAGAGTGTAACTG	0.323													4	143					0	0	0	0	C	57196839	G	C	57196839	2	2	482	1	0	0	0	0	0	0	0	1	14441	929	33	2		2	SKA2	17	57196839	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	848677	57196839	23998371	125	93033											
ACE	1636	broad.mit.edu	37	chr17	61556405	61556405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caacatgagcaggatctactCcaccgccaaggtctgcctcc	10	7	8	16	1	2	1	0	1	2	0	4	2	4	2	5	2	4	1	5	2	3	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:61556405C>G	ENST00000290866.4	+	3	479	c.455C>G	c.(454-456)tCc>tGc	p.S152C	ACE_ENST00000428043.1_Missense_Mutation_p.S152C|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.S152C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	152	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGATCTACTCCACCGCCAAG	0.637											OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	0	0	G	61556405	C	G	61556405	3	3	482	1	0	0	0	0	1	0	0	0	136	855	30	2	465	2	ACE	17	61556405	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	4359566	61556405	19638805	126	93034											
PRKCA	5578	broad.mit.edu	37	chr17	64684434	64684434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagcaaattgaaaccttCagacaaagaccgacgactgt	15	9	8	9	2	1	3	1	1	0	2	1	5	1	3	2	0	2	2	2	0	4	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:64684434C>T	ENST00000413366.3	+	7	727	c.701C>T	c.(700-702)tCa>tTa	p.S234L		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	234	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TTGAAACCTTCAGACAAAGAC	0.448													40	62					0	0	0	0	T	64684434	C	T	64684434	3	4	482	1	0	0	0	0	1	0	0	0	12587	838	29	2	727	2	PRKCA	17	64684434	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	3128029	64684434	16510776	127	93035											
SDK2	54549	broad.mit.edu	37	chr17	71419642	71419642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagagtggccactgggtgctCgggcgcgtggggcagttgcc	4	7	20	10	3	0	1	0	0	0	1	1	2	0	1	2	5	2	3	2	5	0	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:71419642C>G	ENST00000392650.3	-	14	1780	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	SDK2_ENST00000388726.3_Missense_Mutation_p.E594Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	594	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACTGGGTGCTCGGGCGCGTGG	0.612													15	5					0	0	0	0	G	71419642	C	G	71419642	3	3	482	1	0	0	0	0	1	0	0	0	14056	893	31	3	4866	3	SDK2	17	71419642	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	6735208	71419642	9775568	128	93036											
ST8SIA5	29906	broad.mit.edu	37	chr18	44261974	44261974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcacagtgaccacatccGtcttcacccccacatccatg	9	9	6	17	1	3	1	2	1	1	0	5	1	5	1	5	1	0	1	5	1	0	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:44261974G>A	ENST00000315087.7	-	6	1283	c.623C>T	c.(622-624)aCg>aTg	p.T208M	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.T177M|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.T244M	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	208					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GACCACATCCGTCTTCACCCC	0.532													27	31					0	0	0	0	A	44261974	G	A	44261974	3	1	482	1	0	0	0	0	1	0	0	0	15325	1145	40	1	515	1	ST8SIA5	18	44261974	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		44261974	33815274	129	93037											
WDR7	23335	broad.mit.edu	37	chr18	54547341	54547347	+	Frame_Shift_Del	DEL	TGAGGGA	TGAGGGA	-																															cgaagctctagccaaattccTgagggattcgggttgactag																										TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:54547341_54547347delTGAGGGA	ENST00000254442.3	+	21	3682_3688	c.3471_3477delTGAGGGA	c.(3469-3477)ccfs	p.PEG1157fs	WDR7_ENST00000357574.3_Frame_Shift_Del_p.PEG1124fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1157										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCAAATTCCTGAGGGATTCGGGTTGA	0.411													17	40	---	---	---	---					-	54547347	TGAGGGA	-	54547341	7	5	482	1	0	1	0	1	0	0	0	0	17416	1567	55	0	3549	0	WDR7	18	54547341	Frame_Shift_Del	DEL	TGAGGGA	TCGA-RS-A6TP-01A-12D-A34J-08	10285367	54547341	23529907	130	93038											
PARD6G	84552	broad.mit.edu	37	chr18	77918383	77918383	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaagtcgcgcgggaggccGatgtccaggtgtgcacgccg	6	5	18	12	7	0	0	0	0	0	0	2	3	1	2	3	4	1	1	3	4	1	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:77918383G>A	ENST00000353265.3	-	3	599	c.402C>T	c.(400-402)atC>atT	p.I134I	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	134	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCGGGAGGCCGATGTCCAGGT	0.731													6	6					0	0	0	0	A	77918383	G	A	77918383	2	1	482	1	0	0	0	0	0	0	0	1	11518	1048	37	1		1	PARD6G	18	77918383	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	23371042	77918383	158865	131	93039											
C19orf26	255057	broad.mit.edu	37	chr19	1231186	1231186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccgggcaatgtactggatGaagtcctcctggggggcatc	7	8	15	11	1	0	1	0	1	0	0	3	2	2	2	3	5	1	3	3	5	3	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:1231186G>A	ENST00000590083.1	-	9	1360	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	C19orf26_ENST00000215376.6_Silent_p.F350F|C19orf26_ENST00000382477.2_Silent_p.F376F			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	376						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGTACTGGATGAAGTCCTCCT	0.692										HNSCC(14;0.022)			41	53					0	0	0	0	A	1231186	G	A	1231186	2	1	482	1	0	0	0	0	0	0	0	1	1934	1281	45	2		2	C19orf26	19	1231186	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		1231186	57897797	132	93040											
ALKBH7	84266	broad.mit.edu	37	chr19	6374950	6374950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctgagggcatggggcCaggggagtctggacagccgc	6	5	17	13	1	1	1	0	1	1	0	2	3	2	3	4	6	1	1	4	6	0	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:6374950C>T	ENST00000245812.3	+	4	1020	c.632C>T	c.(631-633)cCa>cTa	p.P211L	ALKBH7_ENST00000596657.1_Missense_Mutation_p.P69L|ALKBH7_ENST00000599849.1_Missense_Mutation_p.P150L	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	211						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCATGGGGCCAGGGGAGTCT	0.612													31	47					0	0	0	0	T	6374950	C	T	6374950	3	4	482	1	0	0	0	0	1	0	0	0	532	594	21	4	646	4	ALKBH7	19	6374950	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	5143764	6374950	52754033	133	93041											
KANK3	256949	broad.mit.edu	37	chr19	8389622	8389622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggccccatccgcatcCtgcgcattcacatcagcccc	6	8	8	19	2	2	0	2	0	0	0	4	0	4	0	6	1	2	3	6	1	0	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:8389622C>T	ENST00000330915.3	-	9	2240	c.2175G>A	c.(2173-2175)caG>caA	p.Q725Q	KANK3_ENST00000593649.1_Silent_p.Q725Q	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	725										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CATCCGCATCCTGCGCATTCA	0.657													6	77					0	0	0	0	T	8389622	C	T	8389622	2	4	482	1	0	0	0	0	0	0	0	1	8031	680	24	4		4	KANK3	19	8389622	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	2014672	8389622	50739361	134	93042											
ZNF136	7695	broad.mit.edu	37	chr19	12298256	12298256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtacctttcaaatacatGaaaggactcacactggagaa	16	8	7	10	0	2	2	2	1	0	1	2	4	2	3	2	2	2	1	2	2	5	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:12298256G>A	ENST00000343979.4	+	4	1203	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	ZNF136_ENST00000398616.2_Missense_Mutation_p.E289K	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	355					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCAAATACATGAAAGGACTCA	0.403													47	73					0	0	0	0	A	12298256	G	A	12298256	3	1	482	1	0	0	0	0	1	0	0	0	17821	1291	45	2	1077	2	ZNF136	19	12298256	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	3908634	12298256	46830727	135	93043											
ZNF431	170959	broad.mit.edu	37	chr19	21365997	21365997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaatgtggcaaagccttCaaccggtcctcacaccttac	12	8	8	13	1	2	1	2	0	0	1	3	2	3	1	4	2	3	1	4	2	5	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:21365997C>T	ENST00000311048.7	+	5	1035	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCAAAGCCTTCAACCGGTCCT	0.408													6	142					0	0	0	0	T	21365997	C	T	21365997	2	4	482	1	0	0	0	0	0	0	0	1	18000	825	29	2		2	ZNF431	19	21365997	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	9067741	21365997	37762986	136	93044											
ZNF208	7757	broad.mit.edu	37	chr19	22154433	22154433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagggtttctctccagtatGaattaccttatgtttagtaa	10	17	8	6	0	1	1	0	1	1	0	3	1	2	1	2	1	1	5	2	1	7	8			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:22154433G>C	ENST00000397126.4	-	4	3551	c.3403C>G	c.(3403-3405)Cat>Gat	p.H1135D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTACCTTA	0.368													53	65					0	0	0	0	C	22154433	G	C	22154433	3	2	482	1	0	0	0	0	1	0	0	0	17861	1290	45	2	443	2	ZNF208	19	22154433	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	788436	22154433	36974550	137	93045											
ZNF180	7733	broad.mit.edu	37	chr19	44981932	44981932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaataaggtgaatgctctGagggggttttccacattcat	10	13	11	7	0	2	3	1	3	1	0	3	3	3	3	1	3	1	2	1	3	3	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:44981932G>C	ENST00000221327.4	-	5	1047	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	ZNF180_ENST00000391956.4_Missense_Mutation_p.Q231E|ZNF180_ENST00000592529.1_Missense_Mutation_p.Q229E	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAATGCTCTGAGGGGGTTTT	0.353													95	118					0	0	0	0	C	44981932	G	C	44981932	3	2	482	1	0	0	0	0	1	0	0	0	17843	1299	45	2	1316	2	ZNF180	19	44981932	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	22827499	44981932	14147051	138	93046											
ZNF761	388561	broad.mit.edu	37	chr19	53960233	53960233	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagaattcatactggagaGaaaccataaaaatgtaagag	20	7	10	4	0	1	3	1	0	0	3	1	6	1	4	1	2	2	1	1	2	7	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:53960233G>A	ENST00000454407.1	+	0	2925							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATACTGGAGAGAAACCATAAA	0.403													7	16					0	0	0	0	A	53960233	G	A	53960233	1	1	482	0	1	0	0	0	0	0	0	0	18230	957	33	2		2	ZNF761	19	53960233	RNA	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	8978301	53960233	5168750	139	93047											
LILRA5	353514	broad.mit.edu	37	chr19	54818780	54818780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggaccaccaggatcaagCcggccatgcccatgcggatg	11	4	12	14	2	1	0	1	0	0	0	1	3	1	3	5	4	3	0	5	4	2	0			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:54818780C>T	ENST00000301219.3	-	7	937	c.818G>A	c.(817-819)gGc>gAc	p.G273D	LILRA5_ENST00000346508.3_Missense_Mutation_p.G261D	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	273					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGATCAAGCCGGCCATGCC	0.537													45	75					0	0	0	0	T	54818780	C	T	54818780	3	4	482	1	0	0	0	0	1	0	0	0	8842	739	26	4	85	4	LILRA5	19	54818780	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	858547	54818780	4310203	140	93048											
HSPBP1	23640	broad.mit.edu	37	chr19	55776691	55776691	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctgacagcggtggcggagGagctcctccaggcccagttc	7	6	15	13	2	0	1	0	1	0	0	3	3	2	3	3	5	3	3	3	5	0	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:55776691G>C	ENST00000255631.5	-	8	1270	c.960C>G	c.(958-960)ctC>ctG	p.L320L	HSPBP1_ENST00000433386.2_Silent_p.L320L|HSPBP1_ENST00000587922.1_Silent_p.L320L|HSPBP1_ENST00000376343.3_Silent_p.L218L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	323					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	p.L320L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGTGGCGGAGGAGCTCCTCCA	0.657													82	89					0	0	0	0	C	55776691	G	C	55776691	2	2	482	1	0	0	0	0	0	0	0	1	7479	1161	41	2		2	HSPBP1	19	55776691	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	957911	55776691	3352292	141	93049											
NLRP8	126205	broad.mit.edu	37	chr19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcatctcttgatagagcGtttccctggacgacgcgctt	6	13	11	11	4	2	2	1	1	1	1	4	4	3	3	1	2	1	3	1	2	1	5	rs149738419		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512													24	50					0	0	0	0	A	56459540	G	A	56459540	3	1	482	1	0	0	0	0	1	0	0	0	10553	1145	40	1	274	1	NLRP8	19	56459540	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	682849	56459540	2669443	142	93050											
ZNF671	79891	broad.mit.edu	37	chr19	58232845	58232845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggtcaaagtctgtactGaaccagaattgctttccaca	11	12	8	10	0	2	2	1	1	1	1	3	2	3	2	2	1	4	3	2	1	4	3			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:58232845G>A	ENST00000317398.6	-	4	704	c.609C>T	c.(607-609)ttC>ttT	p.F203F	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.F105F	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTCTGTACTGAACCAGAATT	0.493													61	61					0	0	0	0	A	58232845	G	A	58232845	2	1	482	1	0	0	0	0	0	0	0	1	18173	1281	45	2		2	ZNF671	19	58232845	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	1773305	58232845	896138	143	93051											
HSPA12B	116835	broad.mit.edu	37	chr20	3726181	3726181	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagaggcagtaaatggaaaGacgatgcccgccctggaggt	12	6	14	9	2	0	2	0	0	0	2	0	5	0	4	2	4	1	2	2	4	4	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:3726181G>C	ENST00000254963.2	+	6	640	c.495G>C	c.(493-495)aaG>aaC	p.K165N	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	165							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TAAATGGAAAGACGATGCCCG	0.637													32	58					0	0	0	0	C	3726181	G	C	3726181	3	2	482	1	0	0	0	0	1	0	0	0	7457	933	33	2	513	2	HSPA12B	20	3726181	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		3726181	59299339	144	93052											
PTGIS	5740	broad.mit.edu	37	chr20	48166709	48166709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatgctgcccaggtccaggGgaggctcaccaggtcgccta	7	6	15	13	1	1	0	1	0	0	0	3	2	2	2	4	6	2	2	4	6	1	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:48166709G>A	ENST00000244043.4	-	2	121	c.92C>T	c.(91-93)cCc>cTc	p.P31L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	31					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CAGGTCCAGGGGAGGCTCACC	0.527													43	54					0	0	0	0	A	48166709	G	A	48166709	3	1	482	1	0	0	0	0	1	0	0	0	12832	1232	43	4	1446	4	PTGIS	20	48166709	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	44440528	48166709	14858811	145	93053											
RTEL1	51750	broad.mit.edu	37	chr20	62326478	62326478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacagacgtgcacagacCtgaccggccggccctacccg	8	5	10	18	4	1	3	1	1	1	2	2	3	1	3	5	2	2	1	5	2	1	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:62326478C>T	ENST00000318100.4	+	33	4230	c.3403C>T	c.(3403-3405)Ctg>Ttg	p.L1135L	RTEL1_ENST00000370018.3_Silent_p.L1135L|RTEL1_ENST00000360203.5_Silent_p.L1135L|RTEL1_ENST00000508582.2_Silent_p.L1159L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1135L|RTEL1_ENST00000370003.1_Silent_p.L380L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1135					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTGCACAGACCTGACCGGCCG	0.642													22	31					0	0	0	0	T	62326478	C	T	62326478	2	4	482	1	0	0	0	0	0	0	0	1	13805	680	24	4		4	RTEL1	20	62326478	Silent	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	14159769	62326478	699042	146	93054											
CECR1	51816	broad.mit.edu	37	chr22	17688095	17688095	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccccttggggtgaaacaGatgtggcagtgaggcctgta	9	9	14	9	0	0	3	0	2	0	1	1	3	1	3	3	4	1	2	3	4	2	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr22:17688095G>C	ENST00000399839.1	-	3	678	c.408C>G	c.(406-408)atC>atG	p.I136M	CECR1_ENST00000399837.2_Missense_Mutation_p.I136M|CECR1_ENST00000449907.2_Missense_Mutation_p.I94M|CECR1_ENST00000262607.3_Missense_Mutation_p.I136M			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	136	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGTGAAACAGATGTGGCAGT	0.527													5	167					0	0	0	0	C	17688095	G	C	17688095	3	2	482	1	0	0	0	0	1	0	0	0	3234	932	33	2	1193	2	CECR1	22	17688095	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		17688095	33616471	147	93055											
PPEF1	5475	broad.mit.edu	37	chrX	18748409	18748409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccatcgaatatgctgatGaacaaggccaaatgcaggtc	14	8	10	9	1	0	2	0	2	0	0	3	3	1	2	2	2	3	2	2	2	5	1			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:18748409G>A	ENST00000361511.4	+	5	651	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.E53K|PPEF1_ENST00000359763.6_Missense_Mutation_p.E53K|PPEF1_ENST00000349874.5_Missense_Mutation_p.E53K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	53					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATGCTGATGAACAAGGCCA	0.428													101	11					0	0	0	0	A	18748409	G	A	18748409	3	1	482	1	0	0	0	0	1	0	0	0	12378	1291	45	2	163	2	PPEF1	23	18748409	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08		18748409	136522151	148	93056											
DDX3X	1654	broad.mit.edu	37	chrX	41193508	41193508	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcggtactcttcagggatGagtcatgtggcagtggaaaa	10	11	13	7	1	4	1	2	1	2	0	5	3	4	3	0	4	1	2	0	4	3	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:41193508G>C	ENST00000399959.2	+	1	858	c.3G>C	c.(1-3)atG>atC	p.M1I	DDX3X_ENST00000457138.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000441189.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	1					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTCAGGGATGAGTCATGTGG	0.612										HNSCC(61;0.18)			12	3					0	0	0	0	C	41193508	G	C	41193508	1	2	482	1	0	0	0	0	0	0	0	0	4390	1290	45	2		2	DDX3X	23	41193508	Translation_Start_Site	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	22445099	41193508	114077052	149	93057											
KDM5C	8242	broad.mit.edu	37	chrX	53223011	53223011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggactggtcacactgtctCcattctccagtaagccctgg	8	10	9	14	0	3	0	1	0	2	0	5	1	3	1	3	3	1	1	3	3	1	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:53223011C>T	ENST00000452825.3	-	22	4392	c.3860G>A	c.(3859-3861)gGa>gAa	p.G1287E	KDM5C_ENST00000375383.3_Missense_Mutation_p.G1313E|KDM5C_ENST00000404049.3_Missense_Mutation_p.G1353E|KDM5C_ENST00000375379.3_Missense_Mutation_p.G1354E|KDM5C_ENST00000375401.3_Missense_Mutation_p.G1354E	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1354					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CACACTGTCTCCATTCTCCAG	0.567			"N, F, S"		clear cell renal carcinoma								14	5					0	0	0	0	T	53223011	C	T	53223011	3	4	482	1	0	0	0	0	1	0	0	0	8187	855	30	2	731	2	KDM5C	23	53223011	Missense_Mutation	SNP	C	TCGA-RS-A6TP-01A-12D-A34J-08	12029503	53223011	102047549	150	93058											
GLUD2	2747	broad.mit.edu	37	chrX	120181742	120181742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgaccccaacttcttcaaGatggtggagggcttcttcga	9	10	11	11	2	3	1	1	0	2	1	4	5	3	2	2	3	1	1	2	3	2	4			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:120181742G>C	ENST00000328078.1	+	1	281	c.204G>C	c.(202-204)aaG>aaC	p.K68N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	68					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTTCTTCAAGATGGTGGAGG	0.672													61	12					0	0	0	0	C	120181742	G	C	120181742	3	2	482	1	0	0	0	0	1	0	0	0	6528	933	33	2	206	2	GLUD2	23	120181742	Missense_Mutation	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	66958731	120181742	35088818	151	93059											
PHF6	84295	broad.mit.edu	37	chrX	133527593	133527593	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgtgaaaacatgtcacagGacataccactaccactgtgc	14	8	8	11	0	1	1	1	1	0	0	1	3	1	2	2	1	4	0	2	1	4	2			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:133527593G>A	ENST00000332070.3	+	4	505	c.303G>A	c.(301-303)agG>agA	p.R101R	PHF6_ENST00000416404.2_Silent_p.R67R|PHF6_ENST00000370799.1_Silent_p.R101R|PHF6_ENST00000370800.4_Silent_p.R101R|PHF6_ENST00000394292.1_Silent_p.R101R|PHF6_ENST00000370803.3_Silent_p.R101R	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					CATGTCACAGGACATACCACT	0.343			"F, N, Splice, Mis"		ETP ALL								86	6					0	0	0	0	A	133527593	G	A	133527593	2	1	482	1	0	0	0	0	0	0	0	1	11910	1165	41	2		2	PHF6	23	133527593	Silent	SNP	G	TCGA-RS-A6TP-01A-12D-A34J-08	13345851	133527593	21742967	152	93060											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887399	12887399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggatgcttctgatattgCggaagggcattcccaaaatt	11	12	10	8	1	2	1	1	1	1	0	3	3	3	3	1	3	2	2	1	3	4	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:12887399C>G	ENST00000535591.1	-	3	653	c.458G>C	c.(457-459)cGc>cCc	p.R153P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTGATATTGCGGAAGGGCAT	0.468													109	449					0	0	0	0	G	12887399	C	G	12887399	3	3	483	1	0	0	0	0	1	0	0	0	12503	768	27	3	860	3	PRAMEF11	1	12887399	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		12887399	236363222	1	93061											
RPL11	6135	broad.mit.edu	37	chr1	24019119	24019119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatcaaggtgaaaaggaGaaccccatgcgggaacttcg	14	5	13	9	2	1	2	1	1	0	1	2	5	1	4	2	4	3	0	2	4	5	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:24019119G>A	ENST00000374550.3	+	2	72	c.27G>A	c.(25-27)gaG>gaA	p.E9E	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	9					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GTGAAAAGGAGAACCCCATGC	0.522													28	111					0	0	0	0	A	24019119	G	A	24019119	2	1	483	1	0	0	0	0	0	0	0	1	13642	933	33	2		2	RPL11	1	24019119	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	11131720	24019119	225231502	2	93062											
IL22RA1	58985	broad.mit.edu	37	chr1	24460775	24460775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcttccagggttagccGgtggccatcgcctgcacgga	6	9	14	12	3	1	0	0	0	1	0	3	2	2	1	4	4	2	2	4	4	1	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:24460775G>A	ENST00000270800.1	-	4	495	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	153	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGGTTAGCCGGTGGCCATCG	0.522													4	49					0	0	0	0	A	24460775	G	A	24460775	3	1	483	1	0	0	0	0	1	0	0	0	7726	1115	39	1	1283	1	IL22RA1	1	24460775	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	441656	24460775	224789846	3	93063											
SESN2	83667	broad.mit.edu	37	chr1	28599144	28599144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgagctcattcaggCtctggtcctgctcacccact	5	10	9	17	1	4	0	3	0	1	0	5	1	5	0	4	3	2	3	4	3	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:28599144C>T	ENST00000253063.3	+	5	911	c.590C>T	c.(589-591)gCt>gTt	p.A197V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	197					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTCATTCAGGCTCTGGTCCTG	0.652													25	102					0	0	0	0	T	28599144	C	T	28599144	3	4	483	1	0	0	0	0	1	0	0	0	14212	797	28	4	608	4	SESN2	1	28599144	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	4138369	28599144	220651477	4	93064											
KIAA0754	643314	broad.mit.edu	37	chr1	39876601	39876601	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgccaggactttagatttCagcagcacagtgcaaaccct	12	9	8	12	0	1	1	1	0	0	1	1	2	1	2	2	1	5	3	2	1	2	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:39876601C>T	ENST00000530275.1	+	1	451	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	86	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTAGATTTCAGCAGCACAG	0.433											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	76					0	0	0	0	T	39876601	C	T	39876601	4	4	483	1	0	0	0	0	0	1	0	0	8243	827	29	2	666	2	KIAA0754	1	39876601	Nonsense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	11277457	39876601	209374020	5	93065											
HOOK1	51361	broad.mit.edu	37	chr1	60314090	60314090	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggtgaaaactttacagGaaaccaacatgatgtatatg	17	9	9	6	0	0	2	0	2	0	0	0	3	0	3	1	2	5	2	1	2	7	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:60314090G>T	ENST00000371208.3	+	11	1290	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E303*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	345	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AACTTTACAGGAAACCAACAT	0.363													32	90					1.62565e-12	1.71352e-12	1	0	T	60314090	G	T	60314090	4	4	483	1	0	0	0	0	0	1	0	0	7332	1175	41	2	1075	2	HOOK1	1	60314090	Nonsense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	20437489	60314090	188936531	6	93066											
PDE4B	5142	broad.mit.edu	37	chr1	66833738	66833738	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctagacaactataccgAtcgcattcaggtatttgagg	11	12	8	10	2	2	2	1	1	1	1	4	3	2	2	2	2	2	2	2	2	5	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:66833738A>T	ENST00000423207.2	+	13	2092	c.1607A>T	c.(1606-1608)gAt>gTt	p.D536V	PDE4B_ENST00000480109.2_Missense_Mutation_p.D318V|PDE4B_ENST00000371045.5_Missense_Mutation_p.D379V|PDE4B_ENST00000371049.3_Missense_Mutation_p.D551V|PDE4B_ENST00000329654.4_Missense_Mutation_p.D551V	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	551					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AACTATACCGATCGCATTCAG	0.363													4	64					0	0	0	0	T	66833738	A	T	66833738	3	4	483	1	0	0	0	0	1	0	0	0	11711	333	12	5	2064	5	PDE4B	1	66833738	Missense_Mutation	SNP	A	TCGA-T2-A6WX-01A-12D-A34J-08	6519648	66833738	182416883	7	93067											
C1orf52	148423	broad.mit.edu	37	chr1	85724231	85724231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaacgtctcctccccttCtggtagaagcctagctttct	6	14	6	15	1	3	1	0	0	3	1	6	1	5	1	5	1	3	2	5	1	4	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:85724231C>T	ENST00000471115.1	-	2	459	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.E151K	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	151										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		TCCTCCCCTTCTGGTAGAAGC	0.433													51	169					0	0	0	0	T	85724231	C	T	85724231	3	4	483	1	0	0	0	0	1	0	0	0	2064	922	32	2	105	2	C1orf52	1	85724231	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	18890493	85724231	163526390	8	93068											
POLR3GL	84265	broad.mit.edu	37	chr1	145457071	145457071	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctcctcatcctcctCtgaagttacttcttcttcct	4	20	2	15	0	6	1	1	1	5	0	10	1	9	1	4	0	1	1	4	0	2	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:145457071C>A	ENST00000369314.1	-	7	596	c.490G>T	c.(490-492)Gag>Tag	p.E164*	POLR3GL_ENST00000369313.3_Nonsense_Mutation_p.E141*	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	164	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					tcatcctcctctGAAGTTACT	0.443													5	36					0.184627	0.184627	1	0	A	145457071	C	A	145457071	4	1	483	1	0	0	0	0	0	1	0	0	12307	922	32	2	174	2	POLR3GL	1	145457071	Nonsense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	59732840	145457071	103793550	9	93069											
ITGA10	8515	broad.mit.edu	37	chr1	145530360	145530360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttcctacgaagactggTagggaaactgtttattgacc	11	11	10	9	1	0	2	0	1	0	1	1	5	1	3	3	2	2	2	3	2	5	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:145530360T>C	ENST00000369304.3	+	6	750	c.575T>C	c.(574-576)gTa>gCa	p.V192A	ITGA10_ENST00000539363.1_Missense_Mutation_p.V49A|ITGA10_ENST00000538811.1_Missense_Mutation_p.V61A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	192	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGAAGACTGGTAGGGAAACTG	0.488													28	106					0	0	0	0	C	145530360	T	C	145530360	3	2	483	1	0	0	0	0	1	0	0	0	7926	1638	57	5	597	5	ITGA10	1	145530360	Missense_Mutation	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	73289	145530360	103720261	10	93070											
PRPF3	9129	broad.mit.edu	37	chr1	150307683	150307683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatgacaagggcaaatttGagaagattgctcagcgatta	14	10	10	7	1	1	3	1	2	0	2	2	5	2	3	1	1	2	2	1	1	4	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:150307683G>C	ENST00000324862.6	+	7	1171	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	PRPF3_ENST00000543398.1_Missense_Mutation_p.E201Q|PRPF3_ENST00000414970.2_Missense_Mutation_p.E287Q|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	336					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGGCAAATTTGAGAAGATTGC	0.413													14	75					0	0	0	0	C	150307683	G	C	150307683	3	2	483	1	0	0	0	0	1	0	0	0	12645	1291	45	2	1028	2	PRPF3	1	150307683	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	4777323	150307683	98942938	11	93071											
PRPF3	9129	broad.mit.edu	37	chr1	150321635	150321635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagatttctcttccagatGatgaggagtctgatgaggaa	13	11	11	6	0	2	6	0	4	2	2	4	8	3	8	1	2	0	0	1	2	2	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:150321635G>A	ENST00000324862.6	+	15	2011	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	PRPF3_ENST00000414970.2_Missense_Mutation_p.D567N|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	616					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TCTTCCAGATGATGAGGAGTC	0.363													29	126					0	0	0	0	A	150321635	G	A	150321635	3	1	483	1	0	0	0	0	1	0	0	0	12645	1290	45	2	1900	2	PRPF3	1	150321635	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	13952	150321635	98928986	12	93072											
TDRKH	11022	broad.mit.edu	37	chr1	151749034	151749034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagcagaaacgtagacttCtaggtactcatcagcatgaa	16	8	9	8	1	3	4	2	1	1	3	3	4	3	4	0	1	4	4	0	1	6	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:151749034C>G	ENST00000368822.1	-	7	1558	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	TDRKH_ENST00000440583.2_Missense_Mutation_p.E85Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E305Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E309Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E309Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E264Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E309Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	309							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACGTAGACTTCTAGGTACTCA	0.493													33	79					0	0	0	0	G	151749034	C	G	151749034	3	3	483	1	0	0	0	0	1	0	0	0	15831	922	32	2	788	2	TDRKH	1	151749034	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1427399	151749034	97501587	13	93073											
TDRKH	11022	broad.mit.edu	37	chr1	151751715	151751715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgaattgtctcgccgcctCtccctacattaaacaatata	13	11	4	13	3	2	0	0	0	2	0	4	1	2	0	3	0	3	0	3	0	8	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:151751715C>T	ENST00000368822.1	-	5	1058	c.425G>A	c.(424-426)aGa>aAa	p.R142K	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.R138K|TDRKH_ENST00000368824.3_Missense_Mutation_p.R142K|TDRKH_ENST00000458431.2_Missense_Mutation_p.R142K|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368827.6_Missense_Mutation_p.R142K			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	142	KH 2.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGCCGCCTCTCCCTACATT	0.398													21	59					0	0	0	0	T	151751715	C	T	151751715	3	4	483	1	0	0	0	0	1	0	0	0	15831	913	32	2	1296	2	TDRKH	1	151751715	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2681	151751715	97498906	14	93074											
ADAMTS4	9507	broad.mit.edu	37	chr1	161163759	161163759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtccatgtggaggcagCgaccacccatgcaggcctgt	7	7	14	13	1	0	0	0	0	0	0	1	2	1	1	4	4	2	3	4	4	0	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:161163759C>T	ENST00000367996.4	-	5	1942	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	505	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGGAGGCAGCGACCACCCAT	0.652													10	57					0	0	0	0	T	161163759	C	T	161163759	3	4	483	1	0	0	0	0	1	0	0	0	268	768	27	1	1019	1	ADAMTS4	1	161163759	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	9412044	161163759	88086862	15	93075											
HMCN1	83872	broad.mit.edu	37	chr1	186045667	186045667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccatttctctttactgtGagacaaatgctgctccccct	8	14	5	14	0	1	1	0	1	1	1	4	2	3	1	3	0	3	2	3	0	2	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:186045667G>A	ENST00000271588.4	+	54	8627	c.8398G>A	c.(8398-8400)Gag>Aag	p.E2800K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E2800K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2800	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTTTACTGTGAGACAAATGC	0.418													21	75					0	0	0	0	A	186045667	G	A	186045667	3	1	483	1	0	0	0	0	1	0	0	0	7270	1291	45	2	8612	2	HMCN1	1	186045667	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	24881908	186045667	63204954	16	93076											
KIF21B	23046	broad.mit.edu	37	chr1	200965341	200965341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttggccttcttcatctCagccacctcggcctgtagct	5	13	7	16	1	3	0	2	0	2	0	5	0	3	0	5	2	3	2	5	2	2	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:200965341C>T	ENST00000332129.2	-	15	2576	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	KIF21B_ENST00000422435.2_Missense_Mutation_p.E754K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E754K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E754K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	754					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTTCATCTCAGCCACCTCG	0.572													51	193					0	0	0	0	T	200965341	C	T	200965341	3	4	483	1	0	0	0	0	1	0	0	0	8340	835	29	2	2694	2	KIF21B	1	200965341	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	14919674	200965341	48285280	17	93077											
KDM5B	10765	broad.mit.edu	37	chr1	202698874	202698874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcagctcacagctgggcaGatggcatcttcatcctcaga	10	8	11	12	0	4	2	3	0	1	2	5	2	5	2	1	3	2	5	1	3	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:202698874G>A	ENST00000367265.3	-	26	5622	c.4458C>T	c.(4456-4458)atC>atT	p.I1486I	KDM5B_ENST00000367264.2_Silent_p.I1522I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1486					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAGCTGGGCAGATGGCATCTT	0.507													28	102					0	0	0	0	A	202698874	G	A	202698874	2	1	483	1	0	0	0	0	0	0	0	1	8186	932	33	2		2	KDM5B	1	202698874	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1733533	202698874	46551747	18	93078											
KDM5B	10765	broad.mit.edu	37	chr1	202698923	202698923	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcggaataggatgtgtctGagggcagggaatgagtttca	10	11	16	4	1	2	2	1	2	1	0	3	5	2	5	0	4	0	3	0	4	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:202698923G>T	ENST00000367265.3	-	26	5573	c.4409C>A	c.(4408-4410)tCa>tAa	p.S1470*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.S1506*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1470					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGATGTGTCTGAGGGCAGGGA	0.483													56	164					2.84144e-21	3.06606e-21	1	0	T	202698923	G	T	202698923	4	4	483	1	0	0	0	0	0	1	0	0	8186	1294	45	2	233	2	KDM5B	1	202698923	Nonsense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	49	202698923	46551698	19	93079											
CHIT1	1118	broad.mit.edu	37	chr1	203188883	203188883	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccactctggtgtctgatgagGaggccagtgtgaaggagcgt	8	9	16	8	1	2	3	0	3	2	0	2	5	2	5	2	4	1	0	2	4	1	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:203188883G>C	ENST00000367229.1	-	8	858	c.824C>G	c.(823-825)tCc>tGc	p.S275C	CHIT1_ENST00000535569.1_Missense_Mutation_p.S266C|CHIT1_ENST00000255427.3_Missense_Mutation_p.S256C|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	275					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCTGATGAGGAGGCCAGTGT	0.602													21	79					0	0	0	0	C	203188883	G	C	203188883	3	2	483	1	0	0	0	0	1	0	0	0	3375	1174	41	2	592	2	CHIT1	1	203188883	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	489960	203188883	46061738	20	93080											
NFASC	23114	broad.mit.edu	37	chr1	204948662	204948662	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccccagcctcccatcCgagcgctaccgaaccagtgg	9	4	9	19	3	0	0	0	0	0	0	2	2	2	0	8	1	5	1	8	1	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:204948662C>T	ENST00000367172.4	+	19	2479	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	NFASC_ENST00000360049.4_Silent_p.S713S|NFASC_ENST00000404076.1_Silent_p.S696S|NFASC_ENST00000404907.1_Silent_p.S713S|NFASC_ENST00000338586.6_Silent_p.S717S|NFASC_ENST00000513543.1_Silent_p.S713S|NFASC_ENST00000401399.1_Silent_p.S717S|NFASC_ENST00000338515.6_Silent_p.S717S|NFASC_ENST00000367170.4_Silent_p.S717S|NFASC_ENST00000367171.4_Silent_p.S702S|NFASC_ENST00000539706.1_Silent_p.S713S|NFASC_ENST00000367169.4_Silent_p.S717S|NFASC_ENST00000339876.6_Silent_p.S717S			O94856	NFASC_HUMAN	neurofascin	717	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCTCCCATCCGAGCGCTACC	0.622													38	145					0	0	0	0	T	204948662	C	T	204948662	2	4	483	1	0	0	0	0	0	0	0	1	10429	639	23	1		1	NFASC	1	204948662	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1759779	204948662	44301959	21	93081											
RASSF5	83593	broad.mit.edu	37	chr1	206681310	206681310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaggcgaggggcactgcttCgccgagttggtgctgccggg	4	7	19	11	5	0	0	0	0	0	0	1	3	0	0	2	5	3	4	2	5	0	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:206681310C>T	ENST00000338603.2	+	1	432	c.375C>T	c.(373-375)ttC>ttT	p.F125F	RASSF5_ENST00000355294.4_Silent_p.F125F|RASSF5_ENST00000367117.3_Silent_p.F125F	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	125					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCACTGCTTCGCCGAGTTGG	0.726													4	7					0	0	0	0	T	206681310	C	T	206681310	2	4	483	1	0	0	0	0	0	0	0	1	13171	883	31	1		1	RASSF5	1	206681310	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1732648	206681310	42569311	22	93082											
OBSCN	84033	broad.mit.edu	37	chr1	228403320	228403320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggcggtagagggtggcGaggtcactttctccgtggac	6	9	17	9	3	2	1	1	0	1	1	3	3	2	2	1	6	1	2	1	6	1	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:228403320G>A	ENST00000570156.2	+	6	1959	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E629K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E629K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	629	Ig-like 6.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGGTGGCGAGGTCACTTT	0.662													9	11					0	0	0	0	A	228403320	G	A	228403320	3	1	483	1	0	0	0	0	1	0	0	0	10883	1059	37	1	1903	1	OBSCN	1	228403320	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	21722010	228403320	20847301	23	93083											
OR2T1	26696	broad.mit.edu	37	chr1	248570073	248570073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgttttgatgctgctgattCctttctctgtagtccttgct	3	20	9	9	0	1	2	0	2	1	0	4	2	3	2	2	0	3	5	2	0	1	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:248570073C>A	ENST00000366474.1	+	1	778	c.778C>A	c.(778-780)Cct>Act	p.P260T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507													24	111					5.35356e-11	5.57833e-11	1	0	A	248570073	C	A	248570073	3	1	483	1	0	0	0	0	1	0	0	0	11087	855	30	2	780	2	OR2T1	1	248570073	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	20166753	248570073	680548	24	93084											
ZNF692	55657	broad.mit.edu	37	chr1	249152243	249152243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtgagaaacctgagggtgGaaaagagcagcaggacaggc	16	3	16	6	0	0	3	0	2	0	2	0	6	0	5	1	4	3	2	1	4	4	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:249152243G>A	ENST00000391820.3	-	3	367	c.201C>T	c.(199-201)ttC>ttT	p.F67F	ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000306601.4_Intron|ZNF692_ENST00000366469.5_Intron|ZNF692_ENST00000451251.1_Intron|ZNF692_ENST00000366471.3_Intron			Q9BU19	ZN692_HUMAN	zinc finger protein 692	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCTGAGGGTGGAAAAGAGCAG	0.627													4	9					0	0	0	0	A	249152243	G	A	249152243	2	1	483	1	0	0	0	0	0	0	0	1	18192	1189	41	2		2	ZNF692	1	249152243	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	582170	249152243	98378	25	93085											
FAM110C	642273	broad.mit.edu	37	chr2	45619	45619	+	Missense_Mutation	SNP	G	G	A																															gccgggagaagccgctgccgGaggtggcgacgctcacgctg																										TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:45619G>A	ENST00000327669.4	-	1	766	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	256						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCCGCTGCCGGAGGTGGCGAC	0.697													10	28					0	0	0	0	A	45619	G	A	45619	3	1	483	1	0	0	0	0	1	0	0	0	5439	1174	41	2	206	2	FAM110C	2	45619	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		45619	243153754	26	93086	1122	2									
FAM110C	642273	broad.mit.edu	37	chr2	45627	45627	+	Silent	SNP	G	G	A																															aagccgctgccggaggtggcGacgctcacgctgcgcacctt																										TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:45627G>A	ENST00000327669.4	-	1	758	c.759C>T	c.(757-759)gtC>gtT	p.V253V		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	253						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGGAGGTGGCGACGCTCACGC	0.692													10	27					0	0	0	0	A	45627	G	A	45627	2	1	483	1	0	0	0	0	0	0	0	1	5439	1045	37	1		1	FAM110C	2	45627	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	8	45627	243153746	27	93087	1122	2									
DDX1	1653	broad.mit.edu	37	chr2	15758387	15758387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttacctctgatggaaaaaGacttcaggtataaaatttat	15	13	8	5	0	2	2	1	1	1	1	2	3	2	3	1	3	1	2	1	3	7	6	rs146515867		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:15758387G>C	ENST00000381341.2	+	17	1588	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T	DDX1_ENST00000233084.3_Missense_Mutation_p.R400T			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	400	Helicase ATP-binding.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	p.R400T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GATGGAAAAAGACTTCAGGTA	0.368													22	121					0	0	0	0	C	15758387	G	C	15758387	3	2	483	1	0	0	0	0	1	0	0	0	4373	942	33	2	1261	2	DDX1	2	15758387	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	15712760	15758387	227440986	28	93088											
ZNF513	130557	broad.mit.edu	37	chr2	27600565	27600565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgtggccatgcaccttCtggtggcgcttgtagttgtc	4	12	12	13	2	1	0	0	0	1	0	2	0	1	0	4	3	1	4	4	3	1	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:27600565C>A	ENST00000323703.6	-	4	1671	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	ZNF513_ENST00000407879.1_Missense_Mutation_p.Q429H	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	491					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGCACCTTCTGGTGGCGCT	0.647													32	143					6.02846e-25	6.60951e-25	1	0	A	27600565	C	A	27600565	3	1	483	1	0	0	0	0	1	0	0	0	18053	912	32	2	156	2	ZNF513	2	27600565	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	11842178	27600565	215598808	29	93089											
FSHR	2492	broad.mit.edu	37	chr2	49216159	49216159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccacgaaagaatttctttCaattgtgtggatgtttatgt	10	16	8	7	1	2	1	1	0	1	1	2	3	2	2	2	1	0	1	2	1	4	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:49216159C>T	ENST00000406846.2	-	6	600	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	FSHR_ENST00000346173.3_Missense_Mutation_p.E161K|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Intron	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	0.333									Gonadal Dysgenesis, 46 XX				9	44					0	0	0	0	T	49216159	C	T	49216159	3	4	483	1	0	0	0	0	1	0	0	0	6121	835	29	2	1626	2	FSHR	2	49216159	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	21615594	49216159	193983214	30	93090											
ADD2	119	broad.mit.edu	37	chr2	70917937	70917937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcaggtgggtccaaggCacttctgcaggttgatccga	7	10	13	11	1	1	1	0	1	1	0	3	2	3	1	3	4	2	4	3	4	1	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:70917937C>T	ENST00000264436.3	-	8	1274	c.830G>A	c.(829-831)tGc>tAc	p.C277Y	ADD2_ENST00000413157.2_Missense_Mutation_p.C277Y|ADD2_ENST00000407644.2_Missense_Mutation_p.C277Y|ADD2_ENST00000430656.1_Missense_Mutation_p.C293Y|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000355733.3_Missense_Mutation_p.C277Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	277					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGTCCAAGGCACTTCTGCAG	0.498													4	73					0	0	0	0	T	70917937	C	T	70917937	3	4	483	1	0	0	0	0	1	0	0	0	305	710	25	4	1563	4	ADD2	2	70917937	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	21701778	70917937	172281436	31	93091											
CCDC142	84865	broad.mit.edu	37	chr2	74709080	74709080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaaggccccagcccctccGagccctagtccacagctggc	8	4	9	20	1	0	0	0	0	0	0	2	1	2	0	7	2	3	1	7	2	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:74709080G>A	ENST00000393965.3	-	1	1281	c.885C>T	c.(883-885)ctC>ctT	p.L295L	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Silent_p.L295L	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	295										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CAGCCCCTCCGAGCCCTAGTC	0.677													21	43					0	0	0	0	A	74709080	G	A	74709080	2	1	483	1	0	0	0	0	0	0	0	1	2801	1045	37	1		1	CCDC142	2	74709080	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	3791143	74709080	168490293	32	93092											
STAM2	10254	broad.mit.edu	37	chr2	152992035	152992035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacttacctgcctcagtctCtatgtttaaattagttgtta	10	18	5	8	0	2	0	1	0	1	0	3	0	2	0	2	0	3	3	2	0	7	8			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:152992035C>T	ENST00000263904.4	-	8	1136	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	263					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GCCTCAGTCTCTATGTTTAAA	0.318													50	126					0	0	0	0	T	152992035	C	T	152992035	3	4	483	1	0	0	0	0	1	0	0	0	15339	922	32	2	818	2	STAM2	2	152992035	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	78282955	152992035	90207338	33	93093											
XIRP2	129446	broad.mit.edu	37	chr2	167760256	167760256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaagagtaacaacaccagGgaatatggtcggccagaagt	16	5	12	8	1	0	2	0	0	0	2	1	4	0	3	2	3	2	1	2	3	6	2	rs140208720		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:167760256G>T	ENST00000409195.1	+	2	353	c.264G>T	c.(262-264)agG>agT	p.R88S	XIRP2_ENST00000409043.1_Missense_Mutation_p.R88S|XIRP2_ENST00000409728.1_Missense_Mutation_p.R88S|XIRP2_ENST00000409756.2_Missense_Mutation_p.R88S|XIRP2_ENST00000295237.9_Missense_Mutation_p.R88S|XIRP2_ENST00000420519.1_Missense_Mutation_p.R88S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.R88R(2)		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						ACAACACCAGGGAATATGGTC	0.512													20	57					3.51602e-12	3.69182e-12	1	0	T	167760256	G	T	167760256	3	4	483	1	0	0	0	0	1	0	0	0	17526	1223	43	4	266	4	XIRP2	2	167760256	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	14768221	167760256	75439117	34	93094											
ABCB11	8647	broad.mit.edu	37	chr2	169791937	169791937	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcttcatttgtaatcTgaagattgaaaaagagtctt	13	14	10	4	0	3	5	1	3	2	2	3	5	3	5	0	1	0	2	0	1	4	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:169791937T>C	ENST00000263817.6	-	23	2939		c.e23-2			NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11						bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATTTGTAATCTGAAGATTGAA	0.453													56	198					0	0	0	0	C	169791937	T	C	169791937	5	2	483	1	0	0	0	0	0	0	1	0	42	1594	55	5	1176	5	ABCB11	2	169791937	Splice_Site	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	2031681	169791937	73407436	35	93095											
TTN	7273	broad.mit.edu	37	chr2	179615321	179615321	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacgttgtgggcgttttcGaaaagaattttcaaaaaatc	14	12	9	6	3	1	1	1	0	0	1	3	2	1	1	0	1	1	3	0	1	7	5	rs147087155	by1000genomes	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:179615321G>A	ENST00000360870.5	-	46	12028	c.11806C>T	c.(11806-11808)Cga>Tga	p.R3936*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9753							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCGTTTTCGAAAAGAATTT	0.353													21	67					0	0	0	0	A	179615321	G	A	179615321	4	1	483	1	0	0	0	0	0	1	0	0	16831	1066	37	1	98491	1	TTN	2	179615321	Nonsense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	9823384	179615321	63584052	36	93096											
PLCL1	5334	broad.mit.edu	37	chr2	198949559	198949559	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctttgaaaatgggctgtCgaagcgttgaactcgatgta	11	11	13	6	3	0	2	0	2	0	0	2	5	0	2	0	1	3	4	0	1	5	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:198949559C>T	ENST00000428675.1	+	2	1716	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.R342*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	440	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AATGGGCTGTCGAAGCGTTGA	0.408													16	76					0	0	0	0	T	198949559	C	T	198949559	4	4	483	1	0	0	0	0	0	1	0	0	12111	876	31	1	1324	1	PLCL1	2	198949559	Nonsense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	19334238	198949559	44249814	37	93097											
CASP8	841	broad.mit.edu	37	chr2	202131238	202131238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcagaaatctttatgataTtggggaacaactggacagtg	14	10	11	6	0	1	2	0	1	1	1	1	4	1	4	0	3	3	1	0	3	5	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:202131238T>C	ENST00000358485.4	+	2	402	c.206T>C	c.(205-207)aTt>aCt	p.I69T	CASP8_ENST00000264274.9_Missense_Mutation_p.I10T|CASP8_ENST00000264275.5_Missense_Mutation_p.I10T|CASP8_ENST00000392266.3_Missense_Mutation_p.I10T|CASP8_ENST00000392258.3_Missense_Mutation_p.I10T|CASP8_ENST00000392259.2_Missense_Mutation_p.I10T|CASP8_ENST00000432109.2_Missense_Mutation_p.I10T|CASP8_ENST00000323492.7_Missense_Mutation_p.I10T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	10	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.I10T(2)|p.I69T(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTTTATGATATTGGGGAACAA	0.408										HNSCC(4;0.00038)			40	58					0	0	0	0	C	202131238	T	C	202131238	3	2	483	1	0	0	0	0	1	0	0	0	2702	1493	52	5	212	5	CASP8	2	202131238	Missense_Mutation	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	3181679	202131238	41068135	38	93098											
NRP2	8828	broad.mit.edu	37	chr2	206608073	206608073	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggttccctcgaatccctCaggcccagcccggtgaggag	6	7	13	15	2	1	1	1	1	0	0	4	3	3	2	4	4	1	2	4	4	1	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:206608073C>T	ENST00000360409.3	+	9	2229	c.1438C>T	c.(1438-1440)Cag>Tag	p.Q480*	NRP2_ENST00000272849.3_Nonsense_Mutation_p.Q480*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.Q480*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000355117.4_Nonsense_Mutation_p.Q480*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.Q480*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.Q480*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	480	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCGAATCCCTCAGGCCCAGCC	0.617													53	66					0	0	0	0	T	206608073	C	T	206608073	4	4	483	1	0	0	0	0	0	1	0	0	10732	827	29	2	1472	2	NRP2	2	206608073	Nonsense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	4476835	206608073	36591300	39	93099											
SPHKAP	80309	broad.mit.edu	37	chr2	228882732	228882732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggagttgtcaaggcaaatCgctgcaatttcagttgccat	10	12	10	9	1	2	0	2	0	0	0	3	1	2	1	1	2	2	5	1	2	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:228882732C>T	ENST00000392056.3	-	7	2884	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_ENST00000344657.5_Silent_p.A946A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	946	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGCAAATCGCTGCAATTT	0.473													4	164					0	0	0	0	T	228882732	C	T	228882732	2	4	483	1	0	0	0	0	0	0	0	1	15138	871	31	1		1	SPHKAP	2	228882732	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	22274659	228882732	14316641	40	93100											
COL6A3	1293	broad.mit.edu	37	chr2	238256999	238256999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggattatttacctttggtCctgggtatccagggaatcct	8	14	11	8	0	0	0	0	0	0	0	3	2	3	2	4	4	1	1	4	4	4	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:238256999C>T	ENST00000295550.4	-	30	7411	c.6959G>A	c.(6958-6960)gGa>gAa	p.G2320E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G2119E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1713E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2114E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2120E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2114E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2320	Collagen-like 5.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TACCTTTGGTCCTGGGTATCC	0.363													36	169					0	0	0	0	T	238256999	C	T	238256999	3	4	483	1	0	0	0	0	1	0	0	0	3731	855	30	2	2634	2	COL6A3	2	238256999	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	9374267	238256999	4942374	41	93101											
COL6A3	1293	broad.mit.edu	37	chr2	238303539	238303539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccggcccggcttccagCagccttggtgaggtggcttt	4	10	14	13	2	1	1	1	1	0	0	2	1	2	1	4	5	2	3	4	5	0	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:238303539C>A	ENST00000295550.4	-	3	852	c.400G>T	c.(400-402)Gct>Tct	p.A134S	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.A134S|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.A134S|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	134	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCTTCCAGCAGCCTTGGTG	0.488													79	83					2.32478e-39	2.57994e-39	1	0	A	238303539	C	A	238303539	3	1	483	1	0	0	0	0	1	0	0	0	3731	710	25	4	9348	4	COL6A3	2	238303539	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	46540	238303539	4895834	42	93102											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239307468	239307468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatcaaagaccagcaaGacaagatctgtgctgtgaag	15	7	11	8	0	2	5	1	2	1	3	2	5	2	5	1	0	3	3	1	0	4	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:239307468G>T	ENST00000373327.4	+	17	2206	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.D662Y|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.D596Y	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	662	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGACCAGCAAGACAAGATCTG	0.473													57	64					2.82306e-37	3.12023e-37	1	0	T	239307468	G	T	239307468	3	4	483	1	0	0	0	0	1	0	0	0	16535	942	33	2	2050	2	TRAF3IP1	2	239307468	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1003929	239307468	3891905	43	93103											
CAPN10	11132	broad.mit.edu	37	chr2	241535885	241535885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcaccttcctgaaggaCgcgccaggggagttcctgct	7	7	12	15	2	0	1	0	1	0	0	2	3	2	3	5	3	2	3	5	3	1	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:241535885C>T	ENST00000391984.2	+	8	1624	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.D476D	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	476	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCCTGAAGGACGCGCCAGGGG	0.657													56	59					0	0	0	0	T	241535885	C	T	241535885	2	4	483	1	0	0	0	0	0	0	0	1	2648	535	19	1		1	CAPN10	2	241535885	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2228417	241535885	1663488	44	93104											
TRNT1	51095	broad.mit.edu	37	chr3	3170787	3170787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtaggtggagtaggctgtgCcttccgaagcagtatctatt	8	12	13	8	2	1	0	0	0	1	0	2	2	2	1	2	3	2	5	2	3	5	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:3170787C>T	ENST00000251607.6	+	2	165	c.63C>T	c.(61-63)tgC>tgT	p.C21C	TRNT1_ENST00000339437.6_Silent_p.C21C|TRNT1_ENST00000280591.6_Silent_p.C21C|TRNT1_ENST00000402675.1_Silent_p.C21C|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.C21C	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	21					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GTAGGCTGTGCCTTCCGAAGC	0.493													4	115					0	0	0	0	T	3170787	C	T	3170787	2	4	483	1	0	0	0	0	0	0	0	1	16668	747	26	4		4	TRNT1	3	3170787	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		3170787	194851643	45	93105											
WNT7A	7476	broad.mit.edu	37	chr3	13860852	13860852	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcagtgtggtccagcaCgtcttggtggtgcacgagcc	5	10	16	10	2	1	0	0	0	1	0	2	1	2	0	2	4	3	3	2	4	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:13860852C>G	ENST00000285018.4	-	4	943	c.639G>C	c.(637-639)acG>acC	p.T213T		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	213					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGGTCCAGCACGTCTTGGTGG	0.607													18	96					0	0	0	0	G	13860852	C	G	13860852	2	3	483	1	0	0	0	0	0	0	0	1	17490	523	19	3		3	WNT7A	3	13860852	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	10690065	13860852	184161578	46	93106											
DLEC1	9940	broad.mit.edu	37	chr3	38158095	38158095	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgagggtggctgcctcctCtggtccccaggcccctccag	3	8	12	18	0	1	1	0	1	1	0	4	1	4	1	8	4	1	1	8	4	0	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:38158095C>G	ENST00000308059.6	+	28	4029	c.4008C>G	c.(4006-4008)ctC>ctG	p.L1336L	DLEC1_ENST00000346219.3_Silent_p.L1336L|DLEC1_ENST00000452631.2_Silent_p.L1339L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1336					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCTGCCTCCTCTGGTCCCCAG	0.632													25	108					0	0	0	0	G	38158095	C	G	38158095	2	3	483	1	0	0	0	0	0	0	0	1	4589	900	32	2		2	DLEC1	3	38158095	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	24297243	38158095	159864335	47	93107											
TGM4	7047	broad.mit.edu	37	chr3	44945403	44945403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catgtgtggacggatgcctgGatgaagcgaccggatctgcc	8	8	15	10	3	1	1	0	1	1	0	1	6	1	5	3	4	3	0	3	4	1	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:44945403G>C	ENST00000296125.4	+	9	1067	c.999G>C	c.(997-999)tgG>tgC	p.W333C		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	333					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CGGATGCCTGGATGAAGCGAC	0.607													37	186					0	0	0	0	C	44945403	G	C	44945403	3	2	483	1	0	0	0	0	1	0	0	0	15926	1183	41	2	1033	2	TGM4	3	44945403	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	6787308	44945403	153077027	48	93108											
PTH1R	5745	broad.mit.edu	37	chr3	46939346	46939346	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtctgtctctgggcacaggGcgcccctgtctgccggaatg	4	10	14	13	2	3	0	0	0	3	0	4	1	3	1	3	3	1	1	3	3	1	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:46939346G>A	ENST00000313049.5	+	4	518	c.313_splice	c.e4-1	p.G105_splice	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Splice_Site_p.G105_splice|PTH1R_ENST00000430002.2_Splice_Site_p.G105_splice|PTH1R_ENST00000418619.1_Splice_Site_p.G105_splice			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	105						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGGGCACAGGGCGCCCCTGTC	0.557													9	23					0	0	0	0	A	46939346	G	A	46939346	5	1	483	1	0	0	0	0	0	0	1	0	12838	1217	42	4	329	4	PTH1R	3	46939346	Splice_Site	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1993943	46939346	151083084	49	93109											
UBA7	7318	broad.mit.edu	37	chr3	49847986	49847986	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaagaggaactgacggctGagattggagcgctctatgtg	10	9	15	7	2	1	4	0	3	1	2	1	7	1	6	0	3	2	2	0	3	3	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:49847986G>C	ENST00000333486.3	-	12	1589	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	477	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACTGACGGCTGAGATTGGAGC	0.592													54	210					0	0	0	0	C	49847986	G	C	49847986	2	2	483	1	0	0	0	0	0	0	0	1	16929	1277	45	2		2	UBA7	3	49847986	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2908640	49847986	148174444	50	93110											
FLNB	2317	broad.mit.edu	37	chr3	58139360	58139360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggagagaggagaagcggGagtcccaggtgagcattgcg	10	5	18	8	2	0	3	0	1	0	2	1	7	1	5	2	4	3	1	2	4	1	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:58139360G>A	ENST00000295956.4	+	39	6791	c.6626G>A	c.(6625-6627)gGa>gAa	p.G2209E	FLNB_ENST00000429972.2_Missense_Mutation_p.G2198E|FLNB_ENST00000419752.2_Missense_Mutation_p.G2029E|FLNB_ENST00000493452.1_Missense_Mutation_p.G2016E|FLNB_ENST00000358537.3_Missense_Mutation_p.G2185E|FLNB_ENST00000348383.5_Missense_Mutation_p.G2168E|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Missense_Mutation_p.G2240E	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2209	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAGAAGCGGGAGTCCCAGGT	0.602													9	31					0	0	0	0	A	58139360	G	A	58139360	3	1	483	1	0	0	0	0	1	0	0	0	5979	1174	41	2	6877	2	FLNB	3	58139360	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	8291374	58139360	139883070	51	93111											
PSMD6	9861	broad.mit.edu	37	chr3	64005073	64005073	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatcggtgacccagggcCacagttttgtcatatgtctt	8	13	9	11	1	2	1	1	1	1	0	4	1	3	1	3	2	0	1	3	2	2	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:64005073C>T	ENST00000492933.1	-	4	607	c.555G>A	c.(553-555)gtG>gtA	p.V185V	PSMD6_ENST00000394431.2_Silent_p.V94V|PSMD6_ENST00000295901.4_Silent_p.V132V|PSMD6_ENST00000482510.1_Silent_p.V93V	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	132					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GACCCAGGGCCACAGTTTTGT	0.418													7	78					0	0	0	0	T	64005073	C	T	64005073	2	4	483	1	0	0	0	0	0	0	0	1	12781	581	21	4		4	PSMD6	3	64005073	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	5865713	64005073	134017357	52	93112											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572436	101572436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatctgagaatattgctaatCccatgcagacttcctccagt	12	12	6	11	0	1	2	0	1	1	2	4	3	4	2	3	0	2	2	3	0	4	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:101572436C>T	ENST00000326172.5	+	5	1181	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P256S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	356	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TATTGCTAATCCCATGCAGAC	0.488													42	106					0	0	0	0	T	101572436	C	T	101572436	3	4	483	1	0	0	0	0	1	0	0	0	10453	855	30	2	1084	2	NFKBIZ	3	101572436	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	37567363	101572436	96449994	53	93113											
SIDT1	54847	broad.mit.edu	37	chr3	113285336	113285336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccggtccttgttgtggttCgccagcagaaagaggtgctg	7	10	14	10	2	0	2	0	0	0	2	2	2	1	2	3	3	2	4	3	3	1	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:113285336C>T	ENST00000264852.4	+	2	1018	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SIDT1_ENST00000393830.3_Missense_Mutation_p.R98C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	98						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGTTGTGGTTCGCCAGCAGAA	0.493													30	133					0	0	0	0	T	113285336	C	T	113285336	3	4	483	1	0	0	0	0	1	0	0	0	14390	884	31	1	298	1	SIDT1	3	113285336	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	11712900	113285336	84737094	54	93114											
GP9	2815	broad.mit.edu	37	chr3	128781086	128781086	+	Frame_Shift_Del	DEL	G	G	-																															ctggctcttctggctggcctGctgtgtgccaccacagaggc																										TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:128781086delG	ENST00000307395.4	+	3	726	c.504delG	c.(502-504)ctfs	p.L169fs		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	169					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGGCTGGCCTGCTGTGTGCCA	0.721													2	4	---	---	---	---					-	128781086	G	-	128781086	7	5	483	1	0	1	0	1	0	0	0	0	6634	1306	46	0	506	0	GP9	3	128781086	Frame_Shift_Del	DEL	G	TCGA-T2-A6WX-01A-12D-A34J-08	15495750	128781086	69241344	55	93115											
DHX36	170506	broad.mit.edu	37	chr3	154022616	154022616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatattctgaaaacttttCtgcattcaatgttgcactca	14	15	4	8	0	4	1	2	1	2	0	4	1	4	1	0	0	3	3	0	0	6	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:154022616C>G	ENST00000496811.1	-	8	1194	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q	DHX36_ENST00000544526.1_Missense_Mutation_p.E372Q|DHX36_ENST00000329463.5_Missense_Mutation_p.E372Q|DHX36_ENST00000308361.6_Missense_Mutation_p.E372Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	372	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAAAACTTTTCTGCATTCAAT	0.279													26	129					0	0	0	0	G	154022616	C	G	154022616	3	3	483	1	0	0	0	0	1	0	0	0	4546	922	32	2	1984	2	DHX36	3	154022616	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	25241530	154022616	43999814	56	93116											
GPR149	344758	broad.mit.edu	37	chr3	154147314	154147314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaagatagatattcagggTtcctggcggatttaaaaggt	15	11	11	4	1	1	2	1	0	0	2	2	3	2	3	1	4	0	1	1	4	6	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:154147314T>C	ENST00000389740.2	-	1	190	c.91A>G	c.(91-93)Acc>Gcc	p.T31A		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	31						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATATTCAGGGTTCCTGGCGGA	0.393													25	101					0	0	0	0	C	154147314	T	C	154147314	3	2	483	1	0	0	0	0	1	0	0	0	6703	1725	60	5	2120	5	GPR149	3	154147314	Missense_Mutation	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	124698	154147314	43875116	57	93117											
ZBBX	79740	broad.mit.edu	37	chr3	167077760	167077760	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataattaactgttggtttCactggctctgcaagataaaa	13	15	7	6	0	2	1	1	0	1	1	2	1	2	1	0	2	2	4	0	2	6	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:167077760C>A	ENST00000392766.2	-	8	670	c.330G>T	c.(328-330)gtG>gtT	p.V110V	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Silent_p.V110V|ZBBX_ENST00000455345.2_Silent_p.V110V|ZBBX_ENST00000392764.1_Silent_p.V81V|ZBBX_ENST00000307529.5_Silent_p.V110V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	110						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGTTGGTTTCACTGGCTCTG	0.303													11	39					1.58986e-06	1.61953e-06	1	0	A	167077760	C	A	167077760	2	1	483	1	0	0	0	0	0	0	0	1	17612	813	29	2		2	ZBBX	3	167077760	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	12930446	167077760	30944670	58	93118											
HRASLS	57110	broad.mit.edu	37	chr3	192973554	192973554	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgtacttgggtgatggtTacgttatcaacatagcacct	9	13	9	10	1	1	1	1	1	0	0	1	1	1	1	2	2	4	4	2	2	5	5	rs137964301		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:192973554T>G	ENST00000264735.2	+	2	524	c.430T>G	c.(430-432)Tac>Gac	p.Y144D	HRASLS_ENST00000602513.1_Missense_Mutation_p.Y39D	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	39										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|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;0.000159)		GGGTGATGGTTACGTTATCAA	0.483													53	184					0	0	0	0	G	192973554	T	G	192973554	3	3	483	1	0	0	0	0	1	0	0	0	7399	1754	61	5	117	5	HRASLS	3	192973554	Missense_Mutation	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	25895794	192973554	5048876	59	93119											
CORIN	10699	broad.mit.edu	37	chr4	47788783	47788783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgggagagaagcatccGtagtccaggctggaacgtgt	9	7	14	11	2	0	1	0	0	0	1	2	4	2	3	4	3	2	3	4	3	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:47788783G>A	ENST00000273857.4	-	3	367	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CORIN_ENST00000502252.1_Intron|CORIN_ENST00000505909.1_Missense_Mutation_p.T123M|CORIN_ENST00000508498.1_De_novo_Start_InFrame|CORIN_ENST00000504584.1_Missense_Mutation_p.T123M	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	123					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGAAGCATCCGTAGTCCAGGC	0.453													25	74					0	0	0	0	A	47788783	G	A	47788783	3	1	483	1	0	0	0	0	1	0	0	0	3782	1145	40	1	2840	1	CORIN	4	47788783	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		47788783	143365493	60	93120											
LEF1	51176	broad.mit.edu	37	chr4	109086270	109086270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccgtcatcggggtgttctCtggccttgtcgtggtagggc	3	13	15	10	3	2	0	1	0	1	0	5	0	2	0	2	5	1	2	2	5	2	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:109086270C>T	ENST00000379951.2	-	2	1451	c.263G>A	c.(262-264)aGa>aAa	p.R88K	LEF1_ENST00000510624.1_Missense_Mutation_p.R20K|LEF1_ENST00000512172.1_Missense_Mutation_p.R20K|LEF1_ENST00000265165.1_Missense_Mutation_p.R88K|LEF1_ENST00000438313.2_Missense_Mutation_p.R88K	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	88	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GGGGTGTTCTCTGGCCTTGTC	0.443													28	98					0	0	0	0	T	109086270	C	T	109086270	3	4	483	1	0	0	0	0	1	0	0	0	8767	913	32	2	1060	2	LEF1	4	109086270	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	61297487	109086270	82068006	61	93121											
ADAD1	132612	broad.mit.edu	37	chr4	123336558	123336558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaattgcagtgataccaGaggcttagaaatcgctataa	14	10	11	6	1	0	3	0	1	0	2	1	4	0	4	1	2	2	3	1	2	6	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:123336558G>C	ENST00000296513.2	+	11	1459	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	ADAD1_ENST00000388724.2_Missense_Mutation_p.R414T|ADAD1_ENST00000388725.2_Missense_Mutation_p.R407T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	425	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTGATACCAGAGGCTTAGAA	0.338													23	92					0	0	0	0	C	123336558	G	C	123336558	3	2	483	1	0	0	0	0	1	0	0	0	231	942	33	2	1308	2	ADAD1	4	123336558	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	14250288	123336558	67817718	62	93122											
EDNRA	1909	broad.mit.edu	37	chr4	148463720	148463720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagtggaagaaccacgatCaaaacaaccacaacacagac	19	3	6	13	1	1	2	1	0	0	2	2	4	2	3	3	1	4	0	3	1	6	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:148463720C>G	ENST00000324300.5	+	8	1749	c.1234C>G	c.(1234-1236)Caa>Gaa	p.Q412E	EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000511804.1_Missense_Mutation_p.Q187E|EDNRA_ENST00000506066.1_Missense_Mutation_p.Q303E|EDNRA_ENST00000358556.4_Missense_Mutation_p.Q303E|EDNRA_ENST00000339690.5_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	412					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GAACCACGATCAAAACAACCA	0.517													16	70					0	0	0	0	G	148463720	C	G	148463720	3	3	483	1	0	0	0	0	1	0	0	0	4955	827	29	2	1260	2	EDNRA	4	148463720	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	25127162	148463720	42690556	63	93123											
LRBA	987	broad.mit.edu	37	chr4	151246980	151246980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacttgcatggcagaacctCtgggaggatggggctctatg	8	9	14	10	0	2	1	0	0	2	1	2	3	2	3	2	5	2	3	2	5	2	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:151246980C>G	ENST00000535741.1	-	49	7906	c.7433G>C	c.(7432-7434)aGa>aCa	p.R2478T	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.R2489T|LRBA_ENST00000510413.1_Missense_Mutation_p.R2478T|LRBA_ENST00000507224.1_Missense_Mutation_p.R2478T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2489	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCAGAACCTCTGGGAGGATG	0.458													6	35					0	0	0	0	G	151246980	C	G	151246980	3	3	483	1	0	0	0	0	1	0	0	0	8995	913	32	2	1161	2	LRBA	4	151246980	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2783260	151246980	39907296	64	93124											
MAP9	79884	broad.mit.edu	37	chr4	156277025	156277025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatttcttcaaaaactcaGaggtcattaatctgaaaaga	17	12	6	6	0	5	4	3	1	2	3	5	4	5	4	0	1	1	0	0	1	6	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:156277025G>C	ENST00000311277.4	-	9	1396	c.1133C>G	c.(1132-1134)tCt>tGt	p.S378C	AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000601977.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S354C	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	378					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAAAAACTCAGAGGTCATTAA	0.328													11	37					0	0	0	0	C	156277025	G	C	156277025	3	2	483	1	0	0	0	0	1	0	0	0	9339	942	33	2	834	2	MAP9	4	156277025	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	5030045	156277025	34877251	65	93125											
CTSO	1519	broad.mit.edu	37	chr4	156850844	156850844	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtgcttttgccatttCatcttcttggtcactaccaa	10	15	6	10	0	4	1	2	0	2	1	4	1	4	1	2	1	3	1	2	1	4	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:156850844C>A	ENST00000433477.3	-	6	757	c.688G>T	c.(688-690)Gaa>Taa	p.E230*		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	230					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TTTGCCATTTCATCTTCTTGG	0.363													24	69					3.08376e-08	3.16491e-08	1	0	A	156850844	C	A	156850844	4	1	483	1	0	0	0	0	0	1	0	0	4072	835	29	2	289	2	CTSO	4	156850844	Nonsense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	573819	156850844	34303432	66	93126											
GRIA2	2891	broad.mit.edu	37	chr4	158255200	158255200	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggacaaaatggttgttacCcttactgagctcccttctgg	8	13	10	10	0	1	1	0	1	1	0	2	2	2	2	2	3	3	3	2	3	4	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:158255200C>A	ENST00000296526.7	+	9	1519	c.1194C>A	c.(1192-1194)acC>acA	p.T398T	GRIA2_ENST00000507898.1_Silent_p.T351T|GRIA2_ENST00000264426.9_Silent_p.T398T|GRIA2_ENST00000393815.2_Silent_p.T351T|GRIA2_ENST00000449365.1_Silent_p.T351T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	398					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGGTTGTTACCCTTACTGAGC	0.403													35	149					3.38236e-24	3.69353e-24	1	0	A	158255200	C	A	158255200	2	1	483	1	0	0	0	0	0	0	0	1	6818	610	22	4		4	GRIA2	4	158255200	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1404356	158255200	32899076	67	93127											
TRIML1	339976	broad.mit.edu	37	chr4	189060730	189060730	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatgtctacagcagatctGatggagaacctcagggagga	15	7	12	7	0	3	3	1	1	2	2	3	6	3	5	1	3	3	1	1	3	4	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:189060730G>C	ENST00000332517.3	+	1	158	c.18G>C	c.(16-18)ctG>ctC	p.L6L		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	6					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGCAGATCTGATGGAGAACC	0.507													29	127					0	0	0	0	C	189060730	G	C	189060730	2	2	483	1	0	0	0	0	0	0	0	1	16645	1277	45	2		2	TRIML1	4	189060730	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	30805530	189060730	2093546	68	93128											
CDH18	1016	broad.mit.edu	37	chr5	19483611	19483611	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagataatacacatcctGaacagttcgactaaatctcc	14	9	7	11	1	1	2	0	1	1	1	4	3	2	2	2	1	2	2	2	1	5	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:19483611G>A	ENST00000507958.1	-	14	2671	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000382275.1_Nonsense_Mutation_p.Q561*|CDH18_ENST00000274170.4_Nonsense_Mutation_p.Q561*			Q13634	CAD18_HUMAN	cadherin 18, type 2	561	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TACACATCCTGAACAGTTCGA	0.463													13	55					0	0	0	0	A	19483611	G	A	19483611	4	1	483	1	0	0	0	0	0	1	0	0	3132	1299	45	2	699	2	CDH18	5	19483611	Nonsense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		19483611	161431649	69	93129											
NLN	57486	broad.mit.edu	37	chr5	65118740	65118740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaggcctgcatgctccGtgaactggggatctttggta	8	11	14	8	1	1	2	0	1	1	1	2	3	2	3	2	4	3	4	2	4	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:65118740G>A	ENST00000380985.5	+	13	2290	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P	NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Silent_p.P600P	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	704			P -> S (in dbSNP:rs6860508).		proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGCATGCTCCGTGAACTGGGG	0.498													26	93					0	0	0	0	A	65118740	G	A	65118740	2	1	483	1	0	0	0	0	0	0	0	1	10537	1132	40	1		1	NLN	5	65118740	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	45635129	65118740	115796520	70	93130											
APC	324	broad.mit.edu	37	chr5	112175771	112175771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctttattacattttgccacgGaaagtactccagatggattt	11	15	7	8	1	0	1	0	0	0	1	1	3	1	3	2	2	3	1	2	2	4	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:112175771G>C	ENST00000457016.1	+	16	4860	c.4480G>C	c.(4480-4482)Gaa>Caa	p.E1494Q	APC_ENST00000257430.4_Missense_Mutation_p.E1494Q|APC_ENST00000508376.2_Missense_Mutation_p.E1494Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1494	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1494fs*13(7)|p.E1494fs*19(3)|p.?(1)|p.K1454fs*3(1)|p.L1488fs*13(1)|p.S1495fs*19(1)|p.K1192fs*3(1)|p.T1493fs*13(1)|p.E1494*(1)|p.E1494fs*12(1)|p.E1494fs*11(1)|p.T1493fs*17(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTTGCCACGGAAAGTACTCC	0.438		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			22	114					0	0	0	0	C	112175771	G	C	112175771	3	2	483	1	0	0	0	0	1	0	0	0	764	1175	41	2	4538	2	APC	5	112175771	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	47057031	112175771	68739489	71	93131											
CHSY3	337876	broad.mit.edu	37	chr5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcataattacatgctcagccGcaaaatttctgaacttcgct	12	12	6	11	2	2	1	1	1	1	0	3	1	2	1	1	0	4	4	1	0	5	4	rs140992502		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478													21	78					0	0	0	0	A	129520070	G	A	129520070	3	1	483	1	0	0	0	0	1	0	0	0	3442	1087	38	1	1245	1	CHSY3	5	129520070	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	17344299	129520070	51395190	72	93132											
RNF14	9604	broad.mit.edu	37	chr5	141357914	141357914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctatgggaagaacaccGtggcagcgtggtcctgtttg	9	9	13	10	2	0	1	0	0	0	1	1	2	1	2	3	3	3	2	3	3	4	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:141357914G>A	ENST00000394520.2	+	5	662	c.353G>A	c.(352-354)cGt>cAt	p.R118H	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000347642.3_Missense_Mutation_p.R118H|RNF14_ENST00000394519.1_Missense_Mutation_p.R118H|RNF14_ENST00000356143.1_Missense_Mutation_p.R118H|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000394515.3_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	118	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAAGAACACCGTGGCAGCGTG	0.453													25	81					0	0	0	0	A	141357914	G	A	141357914	3	1	483	1	0	0	0	0	1	0	0	0	13528	1145	40	1	363	1	RNF14	5	141357914	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	11837844	141357914	39557346	73	93133											
TCOF1	6949	broad.mit.edu	37	chr5	149754329	149754329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcgggaggaggactcgcaGagcagcagcgaggaatcgga	13	2	18	8	4	0	1	0	0	0	1	2	7	0	6	0	5	4	3	0	5	2	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:149754329G>A	ENST00000451292.1	+	9	1341	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q	TCOF1_ENST00000323668.7_Silent_p.Q334Q|TCOF1_ENST00000439160.2_Silent_p.Q411Q|TCOF1_ENST00000394269.3_Silent_p.Q411Q|TCOF1_ENST00000513346.1_Silent_p.Q411Q|TCOF1_ENST00000504761.2_Silent_p.Q411Q|TCOF1_ENST00000445265.2_Silent_p.Q334Q|TCOF1_ENST00000377797.3_Silent_p.Q411Q			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	411					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGACTCGCAGAGCAGCAGCG	0.677													7	21					0	0	0	0	A	149754329	G	A	149754329	2	1	483	1	0	0	0	0	0	0	0	1	15802	933	33	2		2	TCOF1	5	149754329	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	8396415	149754329	31160931	74	93134											
TTC1	7265	broad.mit.edu	37	chr5	159437680	159437680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtaagctgctcagggatGatgaggcccatctccaggag	11	7	14	9	0	2	3	1	2	1	1	3	5	2	5	2	3	2	3	2	3	1	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:159437680G>A	ENST00000231238.5	+	2	255	c.145G>A	c.(145-147)Gat>Aat	p.D49N	TTC1_ENST00000522793.1_Missense_Mutation_p.D49N	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	49					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GCTCAGGGATGATGAGGCCCA	0.517													12	39					0	0	0	0	A	159437680	G	A	159437680	3	1	483	1	0	0	0	0	1	0	0	0	16774	1290	45	2	147	2	TTC1	5	159437680	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	9683351	159437680	21477580	75	93135											
DSP	1832	broad.mit.edu	37	chr6	7562886	7562886	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctttgtgtcgcaggCggagatggacatggtggcct	5	13	15	8	2	1	1	0	0	1	1	2	3	1	2	1	5	0	1	1	5	0	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:7562886C>T	ENST00000379802.3	+	5	940	c.597_splice	c.e5-1	p.A200_splice	DSP_ENST00000418664.2_Splice_Site_p.A200_splice	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	200	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGTCGCAGGCGGAGATGGAC	0.557													46	164					0	0	0	0	T	7562886	C	T	7562886	5	4	483	1	0	0	0	0	0	0	1	0	4817	782	27	1	617	1	DSP	6	7562886	Splice_Site	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		7562886	163552181	76	93136											
KDM1B	221656	broad.mit.edu	37	chr6	18163094	18163094	+	Frame_Shift_Del	DEL	T	T	-																															aaaatggctacacctcccgaTggtatcatctctcctgtggg																										TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:18163094delT	ENST00000388870.2	+	5	485	c.244delT	c.(244-246)ggfs	p.W82fs	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Frame_Shift_Del_p.W82fs|KDM1B_ENST00000297792.5_Frame_Shift_Del_p.W82fs			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	82					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CACCTCCCGATGGTATCATCT	0.378													27	107	---	---	---	---					-	18163094	T	-	18163094	7	5	483	1	0	1	0	1	0	0	0	0	8176	1464	51	0	254	0	KDM1B	6	18163094	Frame_Shift_Del	DEL	T	TCGA-T2-A6WX-01A-12D-A34J-08	10600208	18163094	152951973	77	93137											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806511	27806511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgacaaaggcccagaaGaaggacggcaagaagcgcaa	17	1	14	9	2	0	4	0	1	0	3	0	5	0	5	1	3	1	3	1	3	6	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:27806511G>T	ENST00000606613.1	+	1	133	c.72G>T	c.(70-72)aaG>aaT	p.K24N	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K24N			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	24					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AGGCCCAGAAGAAGGACGGCA	0.587													51	208					2.0833e-19	2.23914e-19	1	0	T	27806511	G	T	27806511	3	4	483	1	0	0	0	0	1	0	0	0	7203	933	33	2	74	2	HIST1H2BN	6	27806511	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	9643417	27806511	143308556	78	93138											
C6orf15	29113	broad.mit.edu	37	chr6	31079539	31079539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggcagaaccctgtggatGagagaccagggagggcgttg	10	6	17	8	1	1	3	1	1	0	2	1	6	1	5	2	4	1	2	2	4	1	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:31079539G>A	ENST00000259870.3	-	2	600	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	199										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCCTGTGGATGAGAGACCAGG	0.617													16	48					0	0	0	0	A	31079539	G	A	31079539	2	1	483	1	0	0	0	0	0	0	0	1	2357	1277	45	2		2	C6orf15	6	31079539	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	3273028	31079539	140035528	79	93139											
NOTCH4	4855	broad.mit.edu	37	chr6	32163492	32163492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagaaaacctacggccgcGaggggtcgggcctcctcctg	7	6	14	14	4	0	1	0	0	0	1	3	2	2	1	5	4	3	1	5	4	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:32163492G>A	ENST00000375023.3	-	30	5872	c.5734C>T	c.(5734-5736)Cgc>Tgc	p.R1912C	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1912					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTACGGCCGCGAGGGGTCGGG	0.687													15	71					0	0	0	0	A	32163492	G	A	32163492	3	1	483	1	0	0	0	0	1	0	0	0	10621	1058	37	1	281	1	NOTCH4	6	32163492	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1083953	32163492	138951575	80	93140											
BRPF3	27154	broad.mit.edu	37	chr6	36168550	36168550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgaagacctggatgcaGaggtagagtatgacatggat	13	8	13	7	0	0	5	0	2	0	3	0	7	0	7	2	3	1	3	2	3	3	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:36168550G>A	ENST00000357641.6	+	2	704	c.451G>A	c.(451-453)Gag>Aag	p.E151K	BRPF3_ENST00000534694.1_Missense_Mutation_p.E151K|BRPF3_ENST00000543502.1_Missense_Mutation_p.E151K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E151K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E151K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E151K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	151					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTGGATGCAGAGGTAGAGTA	0.547													13	51					0	0	0	0	A	36168550	G	A	36168550	3	1	483	1	0	0	0	0	1	0	0	0	1529	943	33	2	453	2	BRPF3	6	36168550	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	4005058	36168550	134946517	81	93141											
DNAH8	1769	broad.mit.edu	37	chr6	38942235	38942235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaattaatcaagaccttcTggacatcagtaatttaccca	14	12	6	9	0	3	1	2	0	1	1	3	3	3	3	2	2	1	1	2	2	5	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:38942235T>C	ENST00000359357.3	+	83	12367	c.12113T>C	c.(12112-12114)cTg>cCg	p.L4038P	DNAH8_ENST00000441566.1_Missense_Mutation_p.L4002P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGACCTTCTGGACATCAGT	0.418													31	104					0	0	0	0	C	38942235	T	C	38942235	3	2	483	1	0	0	0	0	1	0	0	0	4643	1580	55	5	12435	5	DNAH8	6	38942235	Missense_Mutation	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	2773685	38942235	132172832	82	93142											
GPRC6A	222545	broad.mit.edu	37	chr6	117128338	117128338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaagcgaattttgtcaCtcaggatttctgcagttgat	12	13	10	6	1	3	1	2	1	1	0	3	4	3	3	0	2	2	2	0	2	3	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:117128338C>A	ENST00000310357.3	-	3	551	c.530G>T	c.(529-531)aGt>aTt	p.S177I	GPRC6A_ENST00000530250.1_Missense_Mutation_p.S177I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S177I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	177					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATTTTGTCACTCAGGATTTC	0.408													26	145					4.72057e-08	4.82665e-08	1	0	A	117128338	C	A	117128338	3	1	483	1	0	0	0	0	1	0	0	0	6778	565	20	4	2266	4	GPRC6A	6	117128338	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	78186103	117128338	53986729	83	93143											
REPS1	85021	broad.mit.edu	37	chr6	139241392	139241392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttcaccgatgaatttatCttattttcttctaaaaggtc	12	18	4	7	1	4	1	1	1	3	0	5	2	4	1	1	1	0	0	1	1	6	8			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:139241392C>G	ENST00000450536.2	-	12	2062	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N	REPS1_ENST00000415951.2_Missense_Mutation_p.K469N|REPS1_ENST00000409812.2_Missense_Mutation_p.K469N|REPS1_ENST00000258062.5_Missense_Mutation_p.K496N|REPS1_ENST00000367663.4_Missense_Mutation_p.K469N			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	496						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGAATTTATCTTATTTTCTT	0.328													26	100					0	0	0	0	G	139241392	C	G	139241392	3	3	483	1	0	0	0	0	1	0	0	0	13310	912	32	2	938	2	REPS1	6	139241392	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	22113054	139241392	31873675	84	93144											
UTRN	7402	broad.mit.edu	37	chr6	145095469	145095469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcctaccgtacagcaatCaaaatccgaagactacaaaa	17	7	5	12	2	2	1	1	0	1	1	3	2	3	1	3	0	5	2	3	0	9	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:145095469C>T	ENST00000367545.3	+	59	8601	c.8601C>T	c.(8599-8601)atC>atT	p.I2867I	UTRN_ENST00000367526.4_Silent_p.I422I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2867	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTACAGCAATCAAAATCCGAA	0.308													16	53					0	0	0	0	T	145095469	C	T	145095469	2	4	483	1	0	0	0	0	0	0	0	1	17199	816	29	2		2	UTRN	6	145095469	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	5854077	145095469	26019598	85	93145											
TBP	6908	broad.mit.edu	37	chr6	170873697	170873697	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccattgcacttcgtgccCgaaacgccgaatataatccc	12	8	7	14	4	0	1	0	0	0	1	2	3	1	1	4	0	3	1	4	0	4	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:170873697C>T	ENST00000392092.2	+	4	841	c.562C>T	c.(562-564)Cga>Tga	p.R188*	TBP_ENST00000230354.6_Nonsense_Mutation_p.R188*|TBP_ENST00000540980.1_Nonsense_Mutation_p.R168*	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	188					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		ACTTCGTGCCCGAAACGCCGA	0.318													4	83					0	0	0	0	T	170873697	C	T	170873697	4	4	483	1	0	0	0	0	0	1	0	0	15738	644	23	1	572	1	TBP	6	170873697	Nonsense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	25778228	170873697	241370	86	93146											
SDK1	221935	broad.mit.edu	37	chr7	4026875	4026875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaattcttcccacagccaCgccgtggtgctctcttgggt	5	12	9	15	2	2	0	0	0	2	0	4	0	3	0	4	2	2	1	4	2	1	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:4026875C>T	ENST00000404826.2	+	14	2191	c.2052C>T	c.(2050-2052)caC>caT	p.H684H	SDK1_ENST00000389531.3_Silent_p.H684H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	684	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACAGCCACGCCGTGGTGC	0.458													49	143					0	0	0	0	T	4026875	C	T	4026875	2	4	483	1	0	0	0	0	0	0	0	1	14055	535	19	1		1	SDK1	7	4026875	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		4026875	155111788	87	93147											
USP42	84132	broad.mit.edu	37	chr7	6150815	6150815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacccatcagcctatcaGaatcagcctggcagctccga	11	7	8	15	1	4	2	4	0	0	2	5	3	5	2	4	1	3	2	4	1	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:6150815G>T	ENST00000306177.5	+	2	209	c.51G>T	c.(49-51)caG>caT	p.Q17H		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	17					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGCCTATCAGAATCAGCCTG	0.458													6	26					0.0215528	0.021632	1	0	T	6150815	G	T	6150815	3	4	483	1	0	0	0	0	1	0	0	0	17169	933	33	2	53	2	USP42	7	6150815	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2123940	6150815	152987848	88	93148											
AMPH	273	broad.mit.edu	37	chr7	38502594	38502594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaaggtgaccgaggcCgtgctggtgcgggagacgca	7	6	18	10	4	0	3	0	2	0	1	0	5	0	3	3	4	2	2	3	4	1	0	rs147284975		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:38502594C>T	ENST00000356264.2	-	10	1084	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	AMPH_ENST00000428293.2_Missense_Mutation_p.R290Q|AMPH_ENST00000325590.5_Missense_Mutation_p.R290Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	290					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGACCGAGGCCGTGCTGGTGC	0.552													28	81					0	0	0	0	T	38502594	C	T	38502594	3	4	483	1	0	0	0	0	1	0	0	0	588	652	23	1	1266	1	AMPH	7	38502594	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	32351779	38502594	120636069	89	93149											
CLDN4	1364	broad.mit.edu	37	chr7	73245893	73245893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagaccatgatcgtggCgggcgtggtgttcctgttgg	5	10	17	9	3	0	2	0	1	0	1	2	2	1	2	3	5	0	2	3	5	1	2	rs138373200		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:73245893C>T	ENST00000435050.1	+	2	3042	c.362C>T	c.(361-363)gCg>gTg	p.A121V	CLDN4_ENST00000340958.2_Missense_Mutation_p.A121V|CLDN4_ENST00000431918.1_Missense_Mutation_p.A121V			O14493	CLD4_HUMAN	claudin 4	121					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATGATCGTGGCGGGCGTGGTG	0.607													16	33					0	0	0	0	T	73245893	C	T	73245893	3	4	483	1	0	0	0	0	1	0	0	0	3517	768	27	1	364	1	CLDN4	7	73245893	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	34743299	73245893	85892770	90	93150											
CLIP2	7461	broad.mit.edu	37	chr7	73752876	73752876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggcggaagtgggggatGacttcctgggggactttgtg	6	9	20	6	2	0	1	0	1	0	0	1	4	1	4	1	7	0	0	1	7	1	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:73752876G>T	ENST00000223398.6	+	3	547	c.220G>T	c.(220-222)Gac>Tac	p.D74Y	CLIP2_ENST00000395060.1_Missense_Mutation_p.D74Y|CLIP2_ENST00000361545.5_Missense_Mutation_p.D74Y	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	74						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGTGGGGGATGACTTCCTGGG	0.677													4	14					0.00909568	0.00916281	1	0	T	73752876	G	T	73752876	3	4	483	1	0	0	0	0	1	0	0	0	3563	1290	45	2	226	2	CLIP2	7	73752876	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	506983	73752876	85385787	91	93151											
STAG3L2	442582	broad.mit.edu	37	chr7	74301262	74301262	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatctcaggaaggacatcccTagacacagacagataagtcg	15	6	10	10	1	1	3	1	0	1	3	4	6	2	5	1	2	0	0	1	2	3	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:74301262T>A	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AGGACATCCCTAGACACAGAC	0.443													86	322					0	0	0	0	A	74301262	T	A	74301262	1	1	483	0	1	0	0	0	0	0	0	0	15335	1536	53	5		5	STAG3L2	7	74301262	RNA	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	548386	74301262	84837401	92	93152											
ZNF394	84124	broad.mit.edu	37	chr7	99097278	99097278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctgggatgaggttccatCgagcgctcgctgcagagccc	7	7	13	14	3	0	2	0	1	0	1	3	4	1	3	3	2	3	4	3	2	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:99097278C>T	ENST00000337673.6	-	1	642	c.439G>A	c.(439-441)Gat>Aat	p.D147N	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.D147N|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	147					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAGGTTCCATCGAGCGCTCGC	0.622													26	137					0	0	0	0	T	99097278	C	T	99097278	3	4	483	1	0	0	0	0	1	0	0	0	17975	884	31	1	1258	1	ZNF394	7	99097278	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	24796016	99097278	60041385	93	93153											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129384	99129384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtacgttagcctaattGaacatcaggtgctccacatg	11	12	8	10	1	2	1	2	1	0	0	3	1	3	1	2	1	4	3	2	1	4	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:99129384G>A	ENST00000394170.2	+	7	2283	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E678K|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E678K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	678					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGCCTAATTGAACATCAGGT	0.443													34	125					0	0	0	0	A	99129384	G	A	99129384	3	1	483	1	0	0	0	0	1	0	0	0	17785	1291	45	2	2054	2	ZKSCAN5	7	99129384	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	32106	99129384	60009279	94	93154											
CYP3A4	1576	broad.mit.edu	37	chr7	99359861	99359861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatgtcaagatactccatCtgtagcacagtatcataggt	13	11	7	10	0	3	1	2	0	1	1	4	1	4	1	2	1	2	3	2	1	5	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:99359861C>G	ENST00000354593.2	-	6	709	c.606G>C	c.(604-606)caG>caC	p.Q202H	CYP3A4_ENST00000336411.2_Missense_Mutation_p.Q352H			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	352					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GATACTCCATCTGTAGCACAG	0.398													20	66					0	0	0	0	G	99359861	C	G	99359861	3	3	483	1	0	0	0	0	1	0	0	0	4210	912	32	2	467	2	CYP3A4	7	99359861	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	230477	99359861	59778802	95	93155											
GIGYF1	64599	broad.mit.edu	37	chr7	100283874	100283874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatcgtccaggcaccactCtgggagcccatccttgtcct	6	10	8	17	1	2	0	1	0	1	0	6	1	5	1	5	2	1	1	5	2	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:100283874C>G	ENST00000275732.5	-	8	2086	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	293										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGCACCACTCTGGGAGCCCA	0.627													20	52					0	0	0	0	G	100283874	C	G	100283874	3	3	483	1	0	0	0	0	1	0	0	0	6428	922	32	2	2298	2	GIGYF1	7	100283874	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	924013	100283874	58854789	96	93156											
SERPINE1	5054	broad.mit.edu	37	chr7	100777052	100777052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggacaccctcagcatgttCattgctgccccttatgaaaa	10	10	9	12	0	2	1	2	1	0	0	2	2	2	2	3	2	3	3	3	2	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:100777052C>G	ENST00000223095.4	+	5	934	c.777C>G	c.(775-777)ttC>ttG	p.F259L	SERPINE1_ENST00000445463.2_Missense_Mutation_p.F244L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	259					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCAGCATGTTCATTGCTGCCC	0.552													19	82					0	0	0	0	G	100777052	C	G	100777052	3	3	483	1	0	0	0	0	1	0	0	0	14198	825	29	2	791	2	SERPINE1	7	100777052	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	493178	100777052	58361611	97	93157											
PPP1R3A	5506	broad.mit.edu	37	chr7	113522114	113522114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcaactctaattctttttCattatgttcatcatgttccc	9	19	2	11	0	6	0	4	0	2	0	7	0	7	0	1	0	1	2	1	0	3	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:113522114C>T	ENST00000284601.3	-	3	1014	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	316					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AATTCTTTTTCATTATGTTCA	0.373													28	100					0	0	0	0	T	113522114	C	T	113522114	3	4	483	1	0	0	0	0	1	0	0	0	12447	835	29	2	2430	2	PPP1R3A	7	113522114	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	12745062	113522114	45616549	98	93158											
AHCYL2	23382	broad.mit.edu	37	chr7	129046276	129046276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccattgtgtatgtaactGaaattgaccccatctgtgcc	9	13	8	11	0	1	2	0	2	1	0	2	2	2	2	4	0	2	3	4	0	3	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:129046276G>A	ENST00000325006.3	+	10	1318	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	AHCYL2_ENST00000474594.1_Missense_Mutation_p.E319K|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E320K|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E319K|AHCYL2_ENST00000446544.2_Missense_Mutation_p.E421K|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E341K	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	422					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GTATGTAACTGAAATTGACCC	0.522													21	117					0	0	0	0	A	129046276	G	A	129046276	3	1	483	1	0	0	0	0	1	0	0	0	411	1291	45	2	1424	2	AHCYL2	7	129046276	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	15524162	129046276	30092387	99	93159											
C7orf49	78996	broad.mit.edu	37	chr7	134853635	134853635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgggctgtcagccatgaggGaaggaccctcgttttagtct	7	11	13	10	1	2	1	1	1	1	0	3	3	2	3	2	3	1	2	2	3	2	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:134853635G>A	ENST00000393114.3	-	2	221	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000430372.1_5'UTR|C7orf49_ENST00000459937.1_5'UTR			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	14						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						AGCCATGAGGGAAGGACCCTC	0.502											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	106					0	0	0	0	A	134853635	G	A	134853635	3	1	483	1	0	0	0	0	1	0	0	0	2421	1174	41	2	445	2	C7orf49	7	134853635	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	5807359	134853635	24285028	100	93160											
GIMAP8	155038	broad.mit.edu	37	chr7	150171384	150171384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaaacacatctgtacaGgcccccatgccttcctgctg	10	10	7	14	0	1	1	0	0	1	1	2	1	2	1	4	1	4	2	4	1	4	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:150171384G>A	ENST00000307271.3	+	4	1541	c.967G>A	c.(967-969)Ggc>Agc	p.G323S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	323						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CATCTGTACAGGCCCCCATGC	0.428													14	97					0	0	0	0	A	150171384	G	A	150171384	3	1	483	1	0	0	0	0	1	0	0	0	6436	1000	35	4	977	4	GIMAP8	7	150171384	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	15317749	150171384	8967279	101	93161											
ASB10	136371	broad.mit.edu	37	chr7	150878259	150878259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtcgctgcttgtcctggtCcgcagcatcagcgtctgctc	3	11	13	14	3	2	0	1	0	1	0	6	0	4	0	2	2	4	5	2	2	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:150878259C>T	ENST00000422024.1	-	3	1131	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	ASB10_ENST00000377867.3_Missense_Mutation_p.D276N|ASB10_ENST00000275838.1_Missense_Mutation_p.D291N|ASB10_ENST00000420175.2_Missense_Mutation_p.D291N|ASB10_ENST00000434669.1_Missense_Mutation_p.D336N	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	291					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTCCTGGTCCGCAGCATCA	0.667													8	39					0	0	0	0	T	150878259	C	T	150878259	3	4	483	1	0	0	0	0	1	0	0	0	1018	855	30	2	544	2	ASB10	7	150878259	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	706875	150878259	8260404	102	93162											
ARHGEF10	9639	broad.mit.edu	37	chr8	1812538	1812538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatattttctttcccagcaGaaacaccagaagtcacagaa	16	9	5	11	0	2	3	1	0	1	3	3	3	3	3	2	0	2	1	2	0	4	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:1812538G>A	ENST00000518288.1	+	6	719	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E186K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E186K|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E186K|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E162K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	186					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTTCCCAGCAGAAACACCAGA	0.448													38	85					0	0	0	0	A	1812538	G	A	1812538	3	1	483	1	0	0	0	0	1	0	0	0	896	956	33	2	495	2	ARHGEF10	8	1812538	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		1812538	144551484	103	93163											
RRS1	23212	broad.mit.edu	37	chr8	67341423	67341423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagagcaggacgaggcagaGaagttgcaacgcatcacggt	13	4	15	9	3	1	2	1	0	0	2	1	5	1	3	0	3	3	6	0	3	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:67341423G>C	ENST00000320270.2	+	1	161	c.57G>C	c.(55-57)gaG>gaC	p.E19D		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	19					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ACGAGGCAGAGAAGTTGCAAC	0.652											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	47					0	0	0	0	C	67341423	G	C	67341423	3	2	483	1	0	0	0	0	1	0	0	0	13777	933	33	2	59	2	RRS1	8	67341423	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	65528885	67341423	79022599	104	93164											
RALYL	138046	broad.mit.edu	37	chr8	85441762	85441762	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgagtgagcgacatgcaaGagctgcagtggctggagaaa	13	6	15	7	1	0	4	0	2	0	2	0	6	0	4	0	2	4	4	0	2	2	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:85441762G>C	ENST00000521268.1	+	2	1311	c.206G>C	c.(205-207)aGa>aCa	p.R69T	RALYL_ENST00000518566.1_Missense_Mutation_p.R69T|RALYL_ENST00000521695.1_Missense_Mutation_p.R69T|RALYL_ENST00000517638.1_Missense_Mutation_p.R82T|RALYL_ENST00000522455.1_Missense_Mutation_p.R69T	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	69	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CGACATGCAAGAGCTGCAGTG	0.428													14	63					0	0	0	0	C	85441762	G	C	85441762	3	2	483	1	0	0	0	0	1	0	0	0	13102	942	33	2	251	2	RALYL	8	85441762	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	18100339	85441762	60922260	105	93165											
FAM49B	51571	broad.mit.edu	37	chr8	130867886	130867886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaaccggagtgtgaaatGaagaatttctgcaaactgtt	15	11	9	6	1	2	3	1	2	1	1	2	4	2	4	1	1	3	2	1	1	5	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:130867886G>A	ENST00000519824.2	-	6	682	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	FAM49B_ENST00000519110.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000401979.2_Missense_Mutation_p.H137Y|FAM49B_ENST00000517654.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000523509.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000522746.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000519540.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000522250.1_5'UTR	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	137										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			AGTGTGAAATGAAGAATTTCT	0.423													42	73					0	0	0	0	A	130867886	G	A	130867886	3	1	483	1	0	0	0	0	1	0	0	0	5623	1290	45	2	593	2	FAM49B	8	130867886	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	45426124	130867886	15496136	106	93166											
DMRTA1	63951	broad.mit.edu	37	chr9	22451624	22451624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtaataaatcagctttctCtcctcttcaaactacttctg	11	15	4	11	0	5	0	2	0	3	0	7	0	6	0	1	1	3	2	1	1	5	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:22451624C>G	ENST00000325870.1	+	2	1454	c.1229C>G	c.(1228-1230)tCt>tGt	p.S410C		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	410					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCAGCTTTCTCTCCTCTTCAA	0.408													35	129					0	0	0	0	G	22451624	C	G	22451624	3	3	483	1	0	0	0	0	1	0	0	0	4625	913	32	2	1235	2	DMRTA1	9	22451624	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		22451624	118761807	107	93167											
IGFBPL1	347252	broad.mit.edu	37	chr9	38413282	38413282	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaagggccccctcgcacttgGacagctatattgacatggtc	9	9	11	12	1	0	1	0	1	0	0	2	3	0	2	2	3	1	2	2	3	3	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:38413282G>C	ENST00000377694.1	-	3	661	c.639C>G	c.(637-639)gtC>gtG	p.V213V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	213	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CTCGCACTTGGACAGCTATAT	0.537													16	71					0	0	0	0	C	38413282	G	C	38413282	2	2	483	1	0	0	0	0	0	0	0	1	7638	1161	41	2		2	IGFBPL1	9	38413282	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	15961658	38413282	102800149	108	93168											
C9orf84	158401	broad.mit.edu	37	chr9	114454229	114454229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagtgaaaagatagggtccGatacatctttatttatgaaa	15	13	8	5	1	1	3	0	2	1	1	2	4	2	3	1	1	1	0	1	1	8	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:114454229G>A	ENST00000394779.3	-	23	3963	c.3719C>T	c.(3718-3720)tCg>tTg	p.S1240L	C9orf84_ENST00000318737.4_Missense_Mutation_p.S1279L|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1279L|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1205L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1279										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATAGGGTCCGATACATCTTT	0.378													22	113					0	0	0	0	A	114454229	G	A	114454229	3	1	483	1	0	0	0	0	1	0	0	0	2525	1059	37	1	506	1	C9orf84	9	114454229	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	76040947	114454229	26759202	109	93169											
DFNB31	25861	broad.mit.edu	37	chr9	117240818	117240818	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagaggctggcctcctttCcccaccccactcaccttttt	5	12	6	18	0	1	1	1	1	0	1	3	2	3	1	7	2	0	1	7	2	0	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:117240818C>A	ENST00000374057.3	-	2	1500	c.852G>T	c.(850-852)ggG>ggT	p.G284G	DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	284	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCCTCCTTTCCCCACCCCAC	0.632													12	51					6.81908e-15	7.21554e-15	1	0	A	117240818	C	A	117240818	2	1	483	1	0	0	0	0	0	0	0	1	4492	870	30	2		2	DFNB31	9	117240818	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2786589	117240818	23972613	110	93170											
RABGAP1	23637	broad.mit.edu	37	chr9	125751664	125751664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggcatgatggaactcctGagagtgactgttttgctttc	8	13	13	7	0	0	3	0	3	0	1	2	6	1	4	1	2	2	3	1	2	1	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:125751664G>C	ENST00000373647.4	+	5	813	c.679G>C	c.(679-681)Gag>Cag	p.E227Q		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	227	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGGAACTCCTGAGAGTGACTG	0.418													37	150					0	0	0	0	C	125751664	G	C	125751664	3	2	483	1	0	0	0	0	1	0	0	0	13046	1291	45	2	693	2	RABGAP1	9	125751664	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	8510846	125751664	15461767	111	93171											
TTC16	158248	broad.mit.edu	37	chr9	130488558	130488558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttctccacggccatcCggcacaacccccagaaggcc	10	4	7	20	2	1	1	0	0	1	1	3	1	2	1	7	3	1	1	7	3	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:130488558C>T	ENST00000373289.3	+	10	1380	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	434							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CACGGCCATCCGGCACAACCC	0.607													31	41					0	0	0	0	T	130488558	C	T	130488558	3	4	483	1	0	0	0	0	1	0	0	0	16779	643	23	1	1338	1	TTC16	9	130488558	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	4736894	130488558	10724873	112	93172											
SETX	23064	broad.mit.edu	37	chr9	135204702	135204702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaaagagaaatcttcattCgatgtggacactttttccaa	13	15	6	7	1	2	1	1	0	1	1	4	4	3	2	1	1	0	0	1	1	4	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:135204702C>T	ENST00000372169.2	-	10	2465	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	SETX_ENST00000393220.1_Silent_p.S761S|SETX_ENST00000224140.5_Silent_p.S761S			Q7Z333	SETX_HUMAN	senataxin	761					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATCTTCATTCGATGTGGACA	0.368													5	238					0	0	0	0	T	135204702	C	T	135204702	2	4	483	1	0	0	0	0	0	0	0	1	14228	871	31	1		1	SETX	9	135204702	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	4716144	135204702	6008729	113	93173											
SARDH	1757	broad.mit.edu	37	chr9	136578218	136578218	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcaggtgcctcccccatCaggggcttgtggtcgggcgt	4	9	15	13	2	2	0	2	0	0	0	4	0	3	0	3	5	2	2	3	5	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:136578218C>G	ENST00000371872.4	-	9	1436	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L	SARDH_ENST00000439388.1_Silent_p.L393L|SARDH_ENST00000422262.2_Silent_p.L225L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	393					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTCCCCCATCAGGGGCTTGT	0.612													14	19					0	0	0	0	G	136578218	C	G	136578218	2	3	483	1	0	0	0	0	0	0	0	1	13927	813	29	2		2	SARDH	9	136578218	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1373516	136578218	4635213	114	93174											
NEBL	10529	broad.mit.edu	37	chr10	21098748	21098748	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtaataccagagagcatatgGagacttctagactgaatatt	15	11	9	6	0	1	4	0	1	1	3	1	6	1	4	1	1	2	2	1	1	6	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:21098748G>C	ENST00000377122.4	-	25	2994	c.2598C>G	c.(2596-2598)ctC>ctG	p.L866L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	866	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGCATATGGAGACTTCTAG	0.423													16	67					0	0	0	0	C	21098748	G	C	21098748	2	2	483	1	0	0	0	0	0	0	0	1	10373	1161	41	2		2	NEBL	10	21098748	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		21098748	114435999	115	93175											
RET	5979	broad.mit.edu	37	chr10	43617453	43617453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgatcatatctacaccacGcaaagtgatgtgtaagtgtg	12	13	9	7	1	2	2	1	2	1	0	2	2	2	2	1	0	1	2	1	0	4	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:43617453G>A	ENST00000355710.3	+	16	3022	c.2790G>A	c.(2788-2790)acG>acA	p.T930T	RET_ENST00000340058.5_Silent_p.T930T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	930	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCTACACCACGCAAAGTGATG	0.453		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				29	178					0	0	0	0	A	43617453	G	A	43617453	2	1	483	1	0	0	0	0	0	0	0	1	13317	1074	38	1		1	RET	10	43617453	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	22518705	43617453	91917294	116	93176											
UNC5B	219699	broad.mit.edu	37	chr10	73046445	73046445	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacccccactcttgcaGgtggaatggctcaagaatga	10	8	9	14	0	3	2	2	1	1	1	3	3	3	3	3	3	1	2	3	3	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:73046445G>A	ENST00000335350.6	+	5	968		c.e5-1		UNC5B_ENST00000373192.4_Splice_Site	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)						apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CACTCTTGCAGGTGGAATGGC	0.582													7	160					0	0	0	0	A	73046445	G	A	73046445	5	1	483	1	0	0	0	0	0	0	1	0	17088	1014	35	4	570	4	UNC5B	10	73046445	Splice_Site	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	29428992	73046445	62488302	117	93177											
TTC18	118491	broad.mit.edu	37	chr10	75101306	75101306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttcccctccaagcttcaGagttccattcttaaataaaa	12	13	3	13	0	2	1	1	0	1	1	5	1	5	1	5	0	1	2	5	0	5	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:75101306G>C	ENST00000310715.3	-	7	763	c.643C>G	c.(643-645)Ctg>Gtg	p.L215V	TTC18_ENST00000340329.3_Missense_Mutation_p.L215V|TTC18_ENST00000401621.2_Missense_Mutation_p.L215V|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.L215V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	215							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCAAGCTTCAGAGTTCCATTC	0.403													40	155					0	0	0	0	C	75101306	G	C	75101306	3	2	483	1	0	0	0	0	1	0	0	0	16781	933	33	2	2810	2	TTC18	10	75101306	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2054861	75101306	60433441	118	93178											
ZMIZ1	57178	broad.mit.edu	37	chr10	81056365	81056365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagccagccgagctcCgggcagtacccgccccccac	7	3	10	21	3	0	0	0	0	0	0	1	1	1	0	8	1	5	3	8	1	1	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:81056365C>T	ENST00000334512.5	+	13	1940	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	456	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCGAGCTCCGGGCAGTACC	0.677													11	67					0	0	0	0	T	81056365	C	T	81056365	2	4	483	1	0	0	0	0	0	0	0	1	17791	639	23	1		1	ZMIZ1	10	81056365	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	5955059	81056365	54478382	119	93179											
KIF11	3832	broad.mit.edu	37	chr10	94405203	94405203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcttctcacaggaactcaGaaattttaaccaagaaggta	15	10	8	8	0	2	2	2	0	1	2	3	3	2	3	1	3	2	2	1	3	6	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:94405203G>A	ENST00000260731.3	+	18	2441	c.2351G>A	c.(2350-2352)aGa>aAa	p.R784K		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	784					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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGAACTCAGAAATTTTAAC	0.343													24	57					0	0	0	0	A	94405203	G	A	94405203	3	1	483	1	0	0	0	0	1	0	0	0	8323	942	33	2	2421	2	KIF11	10	94405203	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	13348838	94405203	41129544	120	93180			1	152		3	3	124	G		4.139224e-07
KIF11	3832	broad.mit.edu	37	chr10	94405303	94405303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatctcaagagactgaacaGagatgtgaatctctgaacac	16	9	8	8	0	2	5	1	3	2	2	4	7	2	5	0	0	2	0	0	0	5	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:94405303G>A	ENST00000260731.3	+	18	2541	c.2451G>A	c.(2449-2451)caG>caA	p.Q817Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	817					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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACTGAACAGAGATGTGAAT	0.353													20	77					0	0	0	0	A	94405303	G	A	94405303	2	1	483	1	0	0	0	0	0	0	0	1	8323	933	33	2		2	KIF11	10	94405303	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	100	94405303	41129444	121	93181			1	152		3	3	124	G		4.139224e-07
KIF11	3832	broad.mit.edu	37	chr10	94405326	94405326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgaatctctgaacacaaGaacagtttatttttctgaac	14	14	6	7	0	2	4	0	3	2	1	3	4	2	4	0	0	3	1	0	0	6	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:94405326G>C	ENST00000260731.3	+	18	2564	c.2474G>C	c.(2473-2475)aGa>aCa	p.R825T		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	825					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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAACACAAGAACAGTTTAT	0.353													22	64					0	0	0	0	C	94405326	G	C	94405326	3	2	483	1	0	0	0	0	1	0	0	0	8323	942	33	2	2544	2	KIF11	10	94405326	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	23	94405326	41129421	122	93182			1	152		3	3	124	G		4.139224e-07
MYOF	26509	broad.mit.edu	37	chr10	95159223	95159233	+	Frame_Shift_Del	DEL	CCTTTACTGTC	CCTTTACTGTC	-																															tgcattgcctccaaatatttCctttactgtctgtgagaagg																										TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:95159223_95159233delCCTTTACTGTC	ENST00000371501.4	-	13	1259_1269	c.1137_1147delGACAGTAAAGG	c.(1135-1149)caaafs	p.QTVKE379fs	MYOF_ENST00000371489.1_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.QTVKE379fs			Q9NZM1	MYOF_HUMAN	myoferlin	379	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAAATATTTCCTTTACTGTCTGTGAGAAGG	0.341													9	61	---	---	---	---					-	95159233	CCTTTACTGTC	-	95159223	7	5	483	1	0	1	0	1	0	0	0	0	10159	864	30	0	5206	0	MYOF	10	95159223	Frame_Shift_Del	DEL	CCTTTACTGTC	TCGA-T2-A6WX-01A-12D-A34J-08	753897	95159223	40375524	123	93183											
SORCS1	114815	broad.mit.edu	37	chr10	108427467	108427467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtactattgaggtaactCtgtcccaagctgcaatcctt	10	12	7	12	0	1	1	0	1	1	0	3	1	3	1	3	1	4	4	3	1	5	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:108427467C>A	ENST00000263054.6	-	17	2290	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H	SORCS1_ENST00000369698.1_Missense_Mutation_p.Q296H|SORCS1_ENST00000344440.6_Missense_Mutation_p.Q761H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	761						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAGGTAACTCTGTCCCAAGC	0.483													5	24					0.000602214	0.000611169	1	0	A	108427467	C	A	108427467	3	1	483	1	0	0	0	0	1	0	0	0	15018	912	32	2	1497	2	SORCS1	10	108427467	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	13268244	108427467	27107280	124	93184											
ZNF511	118472	broad.mit.edu	37	chr10	135165854	135165854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgaggaggaccagggCgaggagaggccccggttgtg	7	4	19	11	3	0	2	0	1	0	1	0	6	0	4	5	6	0	1	5	6	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:135165854C>T	ENST00000368554.4	+	8	865	c.843C>T	c.(841-843)ggC>ggT	p.G281G	PRAP1_ENST00000458230.1_Silent_p.G113G|PRAP1_ENST00000423766.1_Silent_p.G123G|PRAP1_ENST00000433452.2_Silent_p.G122G|PRAP1_ENST00000463201.1_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AGGACCAGGGCGAGGAGAGGC	0.652													31	110					0	0	0	0	T	135165854	C	T	135165854	2	4	483	1	0	0	0	0	0	0	0	1	18050	755	27	1		1	ZNF511	10	135165854	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	26738387	135165854	368893	125	93185											
HRAS	3265	broad.mit.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgcactcttgcccacaCcgccggcgcccaccaccacc	7	4	7	23	4	2	0	1	0	1	0	2	0	2	0	7	1	2	1	7	1	0	1	rs104894226		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			26	53					2.41591e-17	2.58645e-17	1	0	A	534285	C	A	534285	3	1	483	1	0	0	0	0	1	0	0	0	7398	507	18	4	614	4	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		534285	134472231	126	93186											
C11orf35	256329	broad.mit.edu	37	chr11	558218	558218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcttctggacctggttCtgcaggagtttctcctgact	6	14	10	11	0	4	1	1	1	3	0	5	3	4	3	2	3	2	4	2	3	0	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:558218C>T	ENST00000329451.3	-	4	404	c.342G>A	c.(340-342)caG>caA	p.Q114Q	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	114										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACCTGGTTCTGCAGGAGTT	0.627													54	76					0	0	0	0	T	558218	C	T	558218	2	4	483	1	0	0	0	0	0	0	0	1	1649	912	32	2		2	C11orf35	11	558218	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	23933	558218	134448298	127	93187											
MUC5B	727897	broad.mit.edu	37	chr11	1268340	1268340	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctcctcaactccAgggacaactcccatcccccc	10	5	3	23	0	1	0	1	0	0	0	5	1	5	1	9	1	3	0	9	1	3	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:1268340A>T	ENST00000447027.1	+	31	10297	c.10239A>T	c.(10237-10239)ccA>ccT	p.P3413P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637													3	13					0	0	0	0	T	1268340	A	T	1268340	2	4	483	1	0	0	0	0	0	0	0	1	10049	175	7	5		5	MUC5B	11	1268340	Silent	SNP	A	TCGA-T2-A6WX-01A-12D-A34J-08	710122	1268340	133738176	128	93188											
CTSD	1509	broad.mit.edu	37	chr11	1780271	1780271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtcaaacgaggtaccattCttcacgtaggtgctggactt	10	12	10	9	2	3	0	2	0	1	0	3	2	3	1	1	3	3	3	1	3	3	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:1780271C>G	ENST00000236671.2	-	4	531	c.399G>C	c.(397-399)aaG>aaC	p.K133N	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R4T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	133					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTACCATTCTTCACGTAGG	0.642													95	168					0	0	0	0	G	1780271	C	G	1780271	3	3	483	1	0	0	0	0	1	0	0	0	4064	912	32	2	863	2	CTSD	11	1780271	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	511931	1780271	133226245	129	93189											
OR52N4	390072	broad.mit.edu	37	chr11	5776059	5776059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacacacaactctggatttCcttcccattctgctctatgt	9	14	5	13	0	3	1	0	0	3	1	5	2	5	2	2	1	2	1	2	1	2	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:5776059C>T	ENST00000317254.3	+	1	137	c.89C>T	c.(88-90)tCc>tTc	p.S30F	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCTGGATTTCCTTCCCATTC	0.438													32	124					0	0	0	0	T	5776059	C	T	5776059	3	4	483	1	0	0	0	0	1	0	0	0	11200	855	30	2	91	2	OR52N4	11	5776059	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	3995788	5776059	129230457	130	93190											
FANCF	2188	broad.mit.edu	37	chr11	22646608	22646608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggagggcgcgacaaaagGcagcaaagacttccgaattc	13	5	13	10	3	0	1	0	0	0	1	2	4	1	2	1	3	1	2	1	3	4	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:22646608G>T	ENST00000327470.3	-	1	779	c.749C>A	c.(748-750)gCc>gAc	p.A250D		NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	250					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCGACAAAAGGCAGCAAAGAC	0.577			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	114					5.34276e-22	5.81104e-22	1	0	T	22646608	G	T	22646608	3	4	483	1	0	0	0	0	1	0	0	0	5712	1203	42	4	379	4	FANCF	11	22646608	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	16870549	22646608	112359908	131	93191											
CRY2	1408	broad.mit.edu	37	chr11	45892066	45892066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagatttaccagcagctttCgcgctaccggggactctgta	8	10	11	12	3	1	1	0	0	1	1	2	2	1	2	2	2	4	5	2	2	3	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:45892066C>T	ENST00000443527.2	+	9	1617	c.1595C>T	c.(1594-1596)tCg>tTg	p.S532L	CRY2_ENST00000417225.2_Missense_Mutation_p.S450L	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	511					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CAGCAGCTTTCGCGCTACCGG	0.542													13	40					0	0	0	0	T	45892066	C	T	45892066	3	4	483	1	0	0	0	0	1	0	0	0	3934	893	31	1	1665	1	CRY2	11	45892066	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	23245458	45892066	89114450	132	93192											
ACP2	53	broad.mit.edu	37	chr11	47269208	47269208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacctcttgccggtgataaGaggtgtttaggaagccgtga	9	12	13	7	2	1	3	0	2	1	1	1	4	1	4	3	3	3	1	3	3	4	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:47269208G>C	ENST00000256997.3	-	3	397	c.281C>G	c.(280-282)tCt>tGt	p.S94C	ACP2_ENST00000533929.1_Missense_Mutation_p.S66C|ACP2_ENST00000444355.2_Missense_Mutation_p.S94C|ACP2_ENST00000530453.1_Missense_Mutation_p.S94C|ACP2_ENST00000527256.1_Missense_Mutation_p.S62C|ACP2_ENST00000529444.1_Missense_Mutation_p.S94C|ACP2_ENST00000529788.1_Missense_Mutation_p.S94C|ACP2_ENST00000537863.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	94						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CCGGTGATAAGAGGTGTTTAG	0.592													35	96					0	0	0	0	C	47269208	G	C	47269208	3	2	483	1	0	0	0	0	1	0	0	0	163	942	33	2	1059	2	ACP2	11	47269208	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1377142	47269208	87737308	133	93193											
ACP2	53	broad.mit.edu	37	chr11	47270244	47270244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccaaggtaacgaagcgcaGactccgggcccgggtgggcg	9	4	16	12	5	0	1	0	0	0	1	1	2	1	1	3	4	3	2	3	4	4	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:47270244G>A	ENST00000256997.3	-	1	213	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	ACP2_ENST00000444355.2_Silent_p.L33L|ACP2_ENST00000530453.1_Silent_p.L33L|ACP2_ENST00000527256.1_Silent_p.L33L|ACP2_ENST00000529444.1_Silent_p.L33L|ACP2_ENST00000529788.1_Silent_p.L33L|NR1H3_ENST00000529540.1_3'UTR|ACP2_ENST00000537863.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	33						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ACGAAGCGCAGACTCCGGGCC	0.637													4	10					0	0	0	0	A	47270244	G	A	47270244	2	1	483	1	0	0	0	0	0	0	0	1	163	933	33	2		2	ACP2	11	47270244	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1036	47270244	87736272	134	93194											
SMTNL1	219537	broad.mit.edu	37	chr11	57317567	57317567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtgcagaaaggactggtGaagaccaagaagaagtgagg	15	6	15	5	0	0	6	0	2	0	4	0	7	0	7	1	3	1	1	1	3	5	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:57317567G>A	ENST00000457912.1	+	8	1521	c.1521G>A	c.(1519-1521)gtG>gtA	p.V507V	SMTNL1_ENST00000527972.1_Silent_p.V489V|SMTNL1_ENST00000399154.2_Silent_p.V452V			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	489										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGGACTGGTGAAGACCAAGA	0.597													4	17					0	0	0	0	A	57317567	G	A	57317567	2	1	483	1	0	0	0	0	0	0	0	1	14903	1277	45	2		2	SMTNL1	11	57317567	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	10047323	57317567	77688949	135	93195											
DAK	26007	broad.mit.edu	37	chr11	61113381	61113381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagcctggaagagcccagGagctgatctgttacaagtcc	11	7	11	12	0	1	2	0	1	1	1	2	4	2	4	4	2	4	2	4	2	4	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:61113381G>A	ENST00000394900.3	+	17	1767	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	513	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AAGAGCCCAGGAGCTGATCTG	0.617													17	60					0	0	0	0	A	61113381	G	A	61113381	3	1	483	1	0	0	0	0	1	0	0	0	4261	1174	41	2	1600	2	DAK	11	61113381	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	3795814	61113381	73893135	136	93196											
AHNAK	79026	broad.mit.edu	37	chr11	62291749	62291749	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatcaacttttggacctgtTatgtcaatatctggcttttt	9	19	6	7	0	3	0	2	0	1	0	3	1	3	1	1	2	1	2	1	2	5	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:62291749T>A	ENST00000378024.4	-	5	10414	c.10140A>T	c.(10138-10140)atA>atT	p.I3380I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3380					nervous system development	nucleus	protein binding			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)				TTGGACCTGTTATGTCAATAT	0.378													30	119					0	0	0	0	A	62291749	T	A	62291749	2	1	483	1	0	0	0	0	0	0	0	1	414	1744	61	5		5	AHNAK	11	62291749	Silent	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	1178368	62291749	72714767	137	93197											
EML3	256364	broad.mit.edu	37	chr11	62377166	62377166	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggggtcttttcccccaCggctgttgggaagagagaaa	10	8	15	8	1	1	3	0	0	1	3	2	5	2	4	2	4	0	2	2	4	2	3	rs143147555	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:62377166C>T	ENST00000531557.1	-	0	131				EML3_ENST00000278845.4_Missense_Mutation_p.R191H|EML3_ENST00000494176.2_Missense_Mutation_p.R162H|EML3_ENST00000394773.2_Missense_Mutation_p.R190H|EML3_ENST00000529309.1_Missense_Mutation_p.R190H			Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3							cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTTCCCCCACGGCTGTTGGG	0.552													6	215					0	0	0	0	T	62377166	C	T	62377166	1	4	483	1	0	0	0	0	0	0	0	0	5136	536	19	1		1	EML3	11	62377166	Translation_Start_Site	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	85417	62377166	72629350	138	93198											
NUDT22	84304	broad.mit.edu	37	chr11	63994194	63994194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggagcagatacaggccGagctgagccccgcccatgac	10	3	12	16	2	0	3	0	2	0	1	0	5	0	4	5	2	4	2	5	2	1	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:63994194G>A	ENST00000279206.3	+	2	226	c.70G>A	c.(70-72)Gag>Aag	p.E24K	NUDT22_ENST00000441250.2_Missense_Mutation_p.E24K	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	24							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GATACAGGCCGAGCTGAGCCC	0.667													17	60					0	0	0	0	A	63994194	G	A	63994194	3	1	483	1	0	0	0	0	1	0	0	0	10810	1059	37	1	72	1	NUDT22	11	63994194	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1617028	63994194	71012322	139	93199											
SPTBN2	6712	broad.mit.edu	37	chr11	66458979	66458979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcaggtcagcccaggcctCgttgagactgtccttccact	8	9	10	14	1	1	1	1	1	0	1	4	2	3	1	4	2	2	2	4	2	1	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:66458979C>T	ENST00000533211.1	-	27	5672	c.5341G>A	c.(5341-5343)Gag>Aag	p.E1781K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1781K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1781K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1781					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.E1781K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCCAGGCCTCGTTGAGACTG	0.672													14	38					0	0	0	0	T	66458979	C	T	66458979	3	4	483	1	0	0	0	0	1	0	0	0	15210	893	31	1	1879	1	SPTBN2	11	66458979	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2464785	66458979	68547537	140	93200											
PC	5091	broad.mit.edu	37	chr11	66638908	66638908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcgaagtccgctcgctcaGagaggaacccgtagccaggg	9	4	16	12	4	1	1	1	0	0	1	3	4	2	2	3	3	2	3	3	3	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:66638908G>C	ENST00000393960.1	-	6	646	c.365C>G	c.(364-366)tCt>tGt	p.S122C	PC_ENST00000393958.2_Missense_Mutation_p.S122C|PC_ENST00000393955.2_Missense_Mutation_p.S122C|PC_ENST00000355677.3_Missense_Mutation_p.S122C|PC_ENST00000524491.1_Missense_Mutation_p.S82C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	122	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCTCGCTCAGAGAGGAACCC	0.632													28	113					0	0	0	0	C	66638908	G	C	66638908	3	2	483	1	0	0	0	0	1	0	0	0	11568	942	33	2	3243	2	PC	11	66638908	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	179929	66638908	68367608	141	93201											
PRSS23	11098	broad.mit.edu	37	chr11	86519137	86519137	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctcaactaccctttctCaacatcagtgaagttatcca	11	12	4	14	0	3	1	3	1	1	0	5	1	4	1	3	0	4	2	3	0	5	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:86519137C>G	ENST00000280258.5	+	2	877	c.452C>G	c.(451-453)tCa>tGa	p.S151*	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Nonsense_Mutation_p.S119*	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	151					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCCTTTCTCAACATCAGTG	0.512													25	89					0	0	0	0	G	86519137	C	G	86519137	4	3	483	1	0	0	0	0	0	1	0	0	12699	838	29	2	454	2	PRSS23	11	86519137	Nonsense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	19880229	86519137	48487379	142	93202											
DIXDC1	85458	broad.mit.edu	37	chr11	111864234	111864234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagaaagagctggggcaGaaggatcgccttcttcagca	11	8	13	9	1	2	3	1	0	1	3	3	4	2	4	1	3	3	4	1	3	2	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:111864234G>A	ENST00000440460.2	+	14	1581	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.Q217Q	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	429					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGCTGGGGCAGAAGGATCGCC	0.483													15	59					0	0	0	0	A	111864234	G	A	111864234	2	1	483	1	0	0	0	0	0	0	0	1	4578	933	33	2		2	DIXDC1	11	111864234	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	25345097	111864234	23142282	143	93203											
ARCN1	372	broad.mit.edu	37	chr11	118461072	118461072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtgtacatatgaagattGaagaaaagataacattaacc	20	10	7	4	0	0	5	0	2	0	3	0	5	0	5	1	0	3	1	1	0	9	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:118461072G>A	ENST00000359415.4	+	7	1123	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ARCN1_ENST00000264028.4_Missense_Mutation_p.E279K|ARCN1_ENST00000392859.3_Missense_Mutation_p.E191K|ARCN1_ENST00000534182.2_Intron			P48444	COPD_HUMAN	archain 1	279	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TATGAAGATTGAAGAAAAGAT	0.428													17	58					0	0	0	0	A	118461072	G	A	118461072	3	1	483	1	0	0	0	0	1	0	0	0	844	1291	45	2	857	2	ARCN1	11	118461072	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	6596838	118461072	16545444	144	93204											
NLRX1	79671	broad.mit.edu	37	chr11	119054012	119054012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatcgggcccgggttcagcGacaccttgagctcctactgc	6	8	13	14	3	1	1	1	1	0	0	3	3	2	2	3	3	4	2	3	3	1	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:119054012G>A	ENST00000409109.1	+	10	3379	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000409991.1_Missense_Mutation_p.R931Q|NLRX1_ENST00000292199.2_Missense_Mutation_p.R931Q|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Intron			Q86UT6	NLRX1_HUMAN	NLR family member X1	931	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGGGTTCAGCGACACCTTGAG	0.612													23	83					0	0	0	0	A	119054012	G	A	119054012	3	1	483	1	0	0	0	0	1	0	0	0	10555	1058	37	1	2826	1	NLRX1	11	119054012	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	592940	119054012	15952504	145	93205											
ITPR2	3709	broad.mit.edu	37	chr12	26753036	26753036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattacttcattcatcttttCatcattctgtaagttaaaga	12	18	3	8	0	6	1	4	0	2	1	6	1	6	1	0	0	1	2	0	0	4	8			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:26753036C>T	ENST00000381340.3	-	29	4101	c.3685G>A	c.(3685-3687)Gaa>Aaa	p.E1229K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1229					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTCATCTTTTCATCATTCTGT	0.338													9	48					0	0	0	0	T	26753036	C	T	26753036	3	4	483	1	0	0	0	0	1	0	0	0	7974	835	29	2	4536	2	ITPR2	12	26753036	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		26753036	107098859	146	93206											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858745	42858745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgtcatcagcattgcctGagaggccaggaaacttgtag	10	9	14	8	0	2	1	2	1	0	1	2	3	2	2	2	3	3	2	2	3	2	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:42858745G>A	ENST00000455697.1	-	7	1376	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.S364L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.S364L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.S364L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.S364L|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	364					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGCATTGCCTGAGAGGCCAGG	0.483													28	79					0	0	0	0	A	42858745	G	A	42858745	3	1	483	1	0	0	0	0	1	0	0	0	12566	1294	45	2	1412	2	PRICKLE1	12	42858745	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	16105709	42858745	90993150	147	93207											
AQP6	363	broad.mit.edu	37	chr12	50367073	50367073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacggggctgtatgtgttCtttggcgtgggctcagtcat	4	13	15	9	2	3	0	2	0	1	0	3	0	3	0	1	4	0	4	1	4	1	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:50367073C>G	ENST00000315520.5	+	1	454	c.117C>G	c.(115-117)ttC>ttG	p.F39L	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	39					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	p.F39L(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGTATGTGTTCTTTGGCGTGG	0.612													39	119					0	0	0	0	G	50367073	C	G	50367073	3	3	483	1	0	0	0	0	1	0	0	0	832	912	32	2	119	2	AQP6	12	50367073	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	7508328	50367073	83484822	148	93208											
KRT76	51350	broad.mit.edu	37	chr12	53170978	53170978	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcccccagagcgggccAcacagctcatcctgctgctg	7	6	10	18	1	1	1	1	0	0	1	3	1	3	1	4	1	5	4	4	1	0	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:53170978A>T	ENST00000332411.2	-	1	151	c.98T>A	c.(97-99)gTg>gAg	p.V33E		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	33	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGCGGGCCACACAGCTCAT	0.607													5	113					0	0	0	0	T	53170978	A	T	53170978	3	4	483	1	0	0	0	0	1	0	0	0	8541	159	6	5	1854	5	KRT76	12	53170978	Missense_Mutation	SNP	A	TCGA-T2-A6WX-01A-12D-A34J-08	2803905	53170978	80680917	149	93209											
SRRM4	84530	broad.mit.edu	37	chr12	119568502	119568502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaccgcggccggtcccctGaggaagggcagaagtcccgc	7	3	16	15	4	0	2	0	1	0	1	2	3	2	3	5	5	0	2	5	5	2	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:119568502G>A	ENST00000267260.4	+	8	1022	c.634G>A	c.(634-636)Gag>Aag	p.E212K	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	212	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCGGTCCCCTGAGGAAGGGCA	0.647													11	16					0	0	0	0	A	119568502	G	A	119568502	3	1	483	1	0	0	0	0	1	0	0	0	15261	1291	45	2	664	2	SRRM4	12	119568502	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	66397524	119568502	14283393	150	93210											
GCN1L1	10985	broad.mit.edu	37	chr12	120611884	120611884	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagaattaccttcctgctGaaggaacgggatgaacagct	13	8	10	10	1	0	3	0	2	0	1	1	5	1	5	2	2	5	2	2	2	5	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:120611884G>A	ENST00000300648.6	-	13	1195	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	395					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTCCTGCTGAAGGAACGGG	0.512													5	25					0	0	0	0	A	120611884	G	A	120611884	4	1	483	1	0	0	0	0	0	1	0	0	6348	1299	45	2	7016	2	GCN1L1	12	120611884	Nonsense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1043382	120611884	13240011	151	93211											
RSRC2	65117	broad.mit.edu	37	chr12	122990163	122990163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatcttgccatttcatactGagcatctaaatttcgaaata	13	15	5	8	1	3	2	1	2	2	0	4	3	3	2	1	0	3	1	1	0	5	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:122990163G>C	ENST00000331738.7	-	10	1361	c.1216C>G	c.(1216-1218)Cag>Gag	p.Q406E	RSRC2_ENST00000354654.2_Missense_Mutation_p.Q358E|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	406								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTTCATACTGAGCATCTAAA	0.393													36	100					0	0	0	0	C	122990163	G	C	122990163	3	2	483	1	0	0	0	0	1	0	0	0	13800	1299	45	2	92	2	RSRC2	12	122990163	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2378279	122990163	10861732	152	93212											
CCDC62	84660	broad.mit.edu	37	chr12	123265739	123265739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataaaagaactgaaataatCaggtcactcacgaagaaggt	19	7	8	7	1	3	3	3	1	0	2	3	4	3	3	0	2	1	0	0	2	7	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:123265739C>G	ENST00000253079.6	+	3	602	c.258C>G	c.(256-258)atC>atG	p.I86M	CCDC62_ENST00000392441.4_Missense_Mutation_p.I86M|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	86						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CTGAAATAATCAGGTCACTCA	0.383													22	86					0	0	0	0	G	123265739	C	G	123265739	3	3	483	1	0	0	0	0	1	0	0	0	2860	816	29	2	268	2	CCDC62	12	123265739	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	275576	123265739	10586156	153	93213											
SACS	26278	broad.mit.edu	37	chr13	23904625	23904625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggcatttttatgaaggtCattcctggcagctgagaagt	10	14	11	6	0	1	2	1	2	0	1	2	3	2	2	1	3	1	3	1	3	3	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:23904625C>T	ENST00000382298.3	-	10	13978	c.13390G>A	c.(13390-13392)Gac>Aac	p.D4464N	SACS_ENST00000402364.1_Missense_Mutation_p.D3714N|SACS_ENST00000382292.3_Missense_Mutation_p.D4464N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4464	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTATGAAGGTCATTCCTGGCA	0.458													45	191					0	0	0	0	T	23904625	C	T	23904625	3	4	483	1	0	0	0	0	1	0	0	0	13889	826	29	2	353	2	SACS	13	23904625	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		23904625	91265253	154	93214											
FRY	10129	broad.mit.edu	37	chr13	32849050	32849050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagataacctccggggaatCggatccaaatttgtcagctc	11	9	11	10	2	1	1	1	0	0	1	5	4	3	3	3	4	2	1	3	4	3	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:32849050C>T	ENST00000380250.3	+	56	8704	c.8208C>T	c.(8206-8208)atC>atT	p.I2736I	FRY_ENST00000542859.1_Silent_p.I106I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		TCCGGGGAATCGGATCCAAAT	0.468													37	114					0	0	0	0	T	32849050	C	T	32849050	2	4	483	1	0	0	0	0	0	0	0	1	6111	874	31	1		1	FRY	13	32849050	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	8944425	32849050	82320828	155	93215											
STARD13	90627	broad.mit.edu	37	chr13	33760037	33760037	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctggaatgtgtggttCactctgcttttctgtttccc	3	16	11	11	2	3	0	1	0	2	0	4	1	4	1	1	3	1	4	1	3	1	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:33760037C>A	ENST00000255486.4	-	1	179	c.123G>T	c.(121-123)gtG>gtT	p.V41V	STARD13_ENST00000399365.3_Intron|STARD13_ENST00000487412.1_Intron|STARD13_ENST00000336934.5_Intron	NM_178007.2	NP_821075.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	910					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATGTGTGGTTCACTCTGCTTT	0.517													17	71					6.94344e-10	7.18015e-10	1	0	A	33760037	C	A	33760037	2	1	483	1	0	0	0	0	0	0	0	1	15346	813	29	2		2	STARD13	13	33760037	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	910987	33760037	81409841	156	93216											
CCNA1	8900	broad.mit.edu	37	chr13	37006796	37006796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcaatcatgtaccctggatCttttattgggggctggggag	7	12	14	8	1	2	0	1	0	1	0	2	2	2	2	1	5	1	3	1	5	3	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:37006796C>G	ENST00000418263.1	+	1	388	c.38C>G	c.(37-39)tCt>tGt	p.S13C	CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.S13C|CCNA1_ENST00000440264.1_Intron	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	13					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TACCCTGGATCTTTTATTGGG	0.587													6	34					0	0	0	0	G	37006796	C	G	37006796	3	3	483	1	0	0	0	0	1	0	0	0	2938	913	32	2	40	2	CCNA1	13	37006796	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	3246759	37006796	78163082	157	93217											
INTS6	26512	broad.mit.edu	37	chr13	52026641	52026641	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaggcagacgtgtctatCaggaacagtaagatgggcat	14	8	13	6	1	2	3	1	0	1	3	2	4	2	4	0	3	1	3	0	3	4	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:52026641C>A	ENST00000311234.4	-	1	493	c.21G>T	c.(19-21)ctG>ctT	p.L7L	INTS6_ENST00000463928.1_Silent_p.L7L|INTS6-AS1_ENST00000596050.1_RNA|INTS6_ENST00000420668.2_Silent_p.L7L|INTS6_ENST00000491723.1_5'UTR|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6_ENST00000442263.3_Silent_p.L7L|INTS6_ENST00000398119.2_Intron|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000594959.1_RNA|INTS6_ENST00000425000.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	7	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ACGTGTCTATCAGGAACAGTA	0.622													17	86					2.94398e-08	3.03286e-08	1	0	A	52026641	C	A	52026641	2	1	483	1	0	0	0	0	0	0	0	1	7835	813	29	2		2	INTS6	13	52026641	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	15019845	52026641	63143237	158	93218											
MYCBP2	23077	broad.mit.edu	37	chr13	77641807	77641807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggtggttcctttggcttTtagctgtacagtgagtgctt	5	17	13	6	0	0	1	0	1	0	0	1	2	1	1	1	3	3	5	1	3	2	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:77641807T>C	ENST00000407578.2	-	71	12630	c.12364A>G	c.(12364-12366)Aaa>Gaa	p.K4122E	MYCBP2_ENST00000357337.6_Missense_Mutation_p.K4084E|MYCBP2_ENST00000544440.2_Missense_Mutation_p.K4084E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4084					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTTTGGCTTTTAGCTGTACA	0.433													58	259					0	0	0	0	C	77641807	T	C	77641807	3	2	483	1	0	0	0	0	1	0	0	0	10088	1850	64	5	1724	5	MYCBP2	13	77641807	Missense_Mutation	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	25615166	77641807	37528071	159	93219											
OXA1L	5018	broad.mit.edu	37	chr14	23240675	23240675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacctttacccacaaccctCtcctacaacctggaaaggat	13	8	5	15	0	1	1	0	0	1	1	2	3	1	3	5	2	4	0	5	2	5	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:23240675C>T	ENST00000358043.5	+	10	1486	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	OXA1L_ENST00000285848.5_Missense_Mutation_p.L466F|OXA1L_ENST00000412791.1_Missense_Mutation_p.L379F|OXA1L_ENST00000604262.1_Missense_Mutation_p.L406F			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	406					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CCACAACCCTCTCCTACAACC	0.453													36	148					0	0	0	0	T	23240675	C	T	23240675	3	4	483	1	0	0	0	0	1	0	0	0	11399	913	32	2	1434	2	OXA1L	14	23240675	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		23240675	84108865	160	93220											
HECTD1	25831	broad.mit.edu	37	chr14	31602773	31602773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcgaatccagataatgaGaggtagtgtgtttgtccact	11	13	11	6	1	0	2	0	1	0	2	3	4	2	2	2	1	0	3	2	1	3	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:31602773G>A	ENST00000399332.1	-	23	4175	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L	HECTD1_ENST00000553700.1_Silent_p.L1229L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1229					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGATAATGAGAGGTAGTGTG	0.403													27	109					0	0	0	0	A	31602773	G	A	31602773	2	1	483	1	0	0	0	0	0	0	0	1	7089	929	33	2		2	HECTD1	14	31602773	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	8362098	31602773	75746767	161	93221											
FOXA1	3169	broad.mit.edu	37	chr14	38061414	38061414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtagatctcgctcagcGtgagcatcttgctgggcgcc	6	10	13	12	3	3	2	1	1	2	1	4	2	3	2	1	2	3	4	1	2	1	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:38061414G>A	ENST00000250448.2	-	2	636	c.575C>T	c.(574-576)aCg>aTg	p.T192M	FOXA1_ENST00000540786.1_Missense_Mutation_p.T159M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	192					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCTCAGCGTGAGCATCTT	0.597													6	147					0	0	0	0	A	38061414	G	A	38061414	3	1	483	1	0	0	0	0	1	0	0	0	6034	1145	40	1	847	1	FOXA1	14	38061414	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	6458641	38061414	69288126	162	93222											
GMFB	2764	broad.mit.edu	37	chr14	54950444	54950444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaactttctcagcttttcCactaaatcttcggcaacatc	11	13	4	13	2	2	0	1	0	2	0	6	1	3	0	1	1	3	2	1	1	4	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:54950444C>T	ENST00000554908.1	-	2	142	c.45G>A	c.(43-45)gtG>gtA	p.V15V	GMFB_ENST00000358056.3_Silent_p.V15V|GMFB_ENST00000553566.1_5'UTR			P60983	GMFB_HUMAN	glia maturation factor, beta	15	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TCAGCTTTTCCACTAAATCTT	0.328													17	105					0	0	0	0	T	54950444	C	T	54950444	2	4	483	1	0	0	0	0	0	0	0	1	6540	581	21	4		4	GMFB	14	54950444	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	16889030	54950444	52399096	163	93223											
ACOT6	641372	broad.mit.edu	37	chr14	74086219	74086219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgttccattggaaaaggcGcaggtgcccttcttgtttat	7	15	10	9	1	1	0	0	0	1	0	2	1	2	1	2	3	1	3	2	3	3	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:74086219G>A	ENST00000381139.1	+	2	631	c.300G>A	c.(298-300)gcG>gcA	p.A100A	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	100						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGGAAAAGGCGCAGGTGCCCT	0.428													4	141					0	0	0	0	A	74086219	G	A	74086219	2	1	483	1	0	0	0	0	0	0	0	1	154	1074	38	1		1	ACOT6	14	74086219	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	19135775	74086219	33263321	164	93224											
RHOV	171177	broad.mit.edu	37	chr15	41165520	41165520	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattagtacgttgacatcGtccctcaggtcggcctgggt	7	12	12	10	3	1	2	1	2	0	0	4	2	2	2	2	3	1	2	2	3	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr15:41165520G>A	ENST00000220507.4	-	3	596	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	149					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CGTTGACATCGTCCCTCAGGT	0.647													37	114					0	0	0	0	A	41165520	G	A	41165520	2	1	483	1	0	0	0	0	0	0	0	1	13429	1136	40	1		1	RHOV	15	41165520	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		41165520	61365872	165	93225											
SEMA6D	80031	broad.mit.edu	37	chr15	48056379	48056379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccttttcagcatccctgGttctgctgtctgtgcattta	4	18	7	12	0	3	0	1	0	2	0	5	0	5	0	2	1	3	4	2	1	1	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr15:48056379G>T	ENST00000316364.5	+	11	1413	c.974G>T	c.(973-975)gGt>gTt	p.G325V	SEMA6D_ENST00000536845.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G325V|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G325V|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G325V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	325	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGCATCCCTGGTTCTGCTGTC	0.458													35	124					1.49673e-21	1.62146e-21	1	0	T	48056379	G	T	48056379	3	4	483	1	0	0	0	0	1	0	0	0	14129	1261	44	4	1012	4	SEMA6D	15	48056379	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	6890859	48056379	54475013	166	93226											
LRRC49	54839	broad.mit.edu	37	chr15	71302194	71302194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgctgcagcaatttaacGcactagcccaactccgtcgt	11	10	7	13	3	0	0	0	0	0	0	2	0	1	0	2	0	6	4	2	0	5	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr15:71302194G>A	ENST00000260382.5	+	13	1716	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T	LRRC49_ENST00000560158.2_Missense_Mutation_p.A174T|LRRC49_ENST00000544974.2_Missense_Mutation_p.A476T|LRRC49_ENST00000560691.1_Missense_Mutation_p.A192T|LRRC49_ENST00000443425.2_Missense_Mutation_p.A442T|LRRC49_ENST00000560369.1_Missense_Mutation_p.A491T|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	486						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GCAATTTAACGCACTAGCCCA	0.363													34	90					0	0	0	0	A	71302194	G	A	71302194	3	1	483	1	0	0	0	0	1	0	0	0	9070	1087	38	1	1506	1	LRRC49	15	71302194	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	23245815	71302194	31229198	167	93227											
CREBBP	1387	broad.mit.edu	37	chr16	3779766	3779766	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgactcctgggggctctttGactgtggctcgccctggctg	2	12	15	12	1	1	2	0	2	1	0	3	2	2	2	2	4	0	3	2	4	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:3779766G>C	ENST00000262367.5	-	31	6091	c.5282C>G	c.(5281-5283)tCa>tGa	p.S1761*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1723*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1761	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.S1761*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGCTCTTTGACTGTGGCTC	0.632			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						10	39					0	0	0	0	C	3779766	G	C	3779766	4	2	483	1	0	0	0	0	0	1	0	0	3891	1294	45	2	2050	2	CREBBP	16	3779766	Nonsense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		3779766	86574987	168	93228											
SMG1	23049	broad.mit.edu	37	chr16	18851040	18851040	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcgtaactctccaccattCatcaggtgttgtgcaagatg	9	12	9	11	1	3	1	2	0	1	1	4	1	3	1	2	1	3	3	2	1	2	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:18851040C>G	ENST00000446231.2	-	42	7337	c.6925G>C	c.(6925-6927)Gaa>Caa	p.E2309Q	SMG1_ENST00000389467.3_Missense_Mutation_p.E2309Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2309	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCCACCATTCATCAGGTGTT	0.453													27	91					0	0	0	0	G	18851040	C	G	18851040	3	3	483	1	0	0	0	0	1	0	0	0	14883	835	29	2	4148	2	SMG1	16	18851040	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	15071274	18851040	71503713	169	93229											
NETO2	81831	broad.mit.edu	37	chr16	47156636	47156636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggttttgttttctcctCttgttctacctgactagagc	4	18	8	11	0	3	2	0	1	3	1	4	2	3	2	3	1	2	3	3	1	2	8			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:47156636C>G	ENST00000562435.1	-	6	970	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	NETO2_ENST00000303155.5_Missense_Mutation_p.E189Q	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	196	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GTTTTCTCCTCTTGTTCTACC	0.438										HNSCC(25;0.065)			45	131					0	0	0	0	G	47156636	C	G	47156636	3	3	483	1	0	0	0	0	1	0	0	0	10410	922	32	2	1007	2	NETO2	16	47156636	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	28305596	47156636	43198117	170	93230											
GFOD2	81577	broad.mit.edu	37	chr16	67709387	67709387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccctcaagagcagctcctCttgcgtggcagagttcttct	6	12	10	13	1	4	2	1	0	3	2	6	2	6	2	2	1	3	4	2	1	1	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:67709387C>G	ENST00000268797.7	-	3	1174	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	277						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AGCAGCTCCTCTTGCGTGGCA	0.637													23	53					0	0	0	0	G	67709387	C	G	67709387	3	3	483	1	0	0	0	0	1	0	0	0	6395	922	32	2	332	2	GFOD2	16	67709387	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	20552751	67709387	22645366	171	93231											
ZFP90	146198	broad.mit.edu	37	chr16	68598390	68598390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctttagtcaaagttcatCtctcattcagcatgagagaa	13	12	7	9	0	5	2	4	1	1	1	6	3	5	2	1	0	2	2	1	0	3	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:68598390C>T	ENST00000570495.1	+	5	1992	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	ZFP90_ENST00000398253.2_Missense_Mutation_p.S567F|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.S567F			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	567					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CAAAGTTCATCTCTCATTCAG	0.433													53	145					0	0	0	0	T	68598390	C	T	68598390	3	4	483	1	0	0	0	0	1	0	0	0	17749	913	32	2	1714	2	ZFP90	16	68598390	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	889003	68598390	21756363	172	93232											
CALB2	794	broad.mit.edu	37	chr16	71417890	71417890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctacggatgtttgacttGaacggggatggcaaattggg	10	10	15	6	2	0	2	0	2	0	0	0	4	0	4	0	5	3	3	0	5	3	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:71417890G>C	ENST00000302628.4	+	7	572	c.495G>C	c.(493-495)ttG>ttC	p.L165F	CALB2_ENST00000349553.5_Missense_Mutation_p.L165F	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	165	EF-hand 4.						calcium ion binding	p.L165L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGTTTGACTTGAACGGGGATG	0.532													32	116					0	0	0	0	C	71417890	G	C	71417890	3	2	483	1	0	0	0	0	1	0	0	0	2599	1281	45	2	521	2	CALB2	16	71417890	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2819500	71417890	18936863	173	93233											
MBTPS1	8720	broad.mit.edu	37	chr16	84089675	84089675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacttgagggcgattcgatCgaaagttgggtaacaccacc	11	9	11	10	3	1	1	1	1	0	0	3	4	1	1	2	2	1	2	2	2	2	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:84089675C>T	ENST00000343411.3	-	22	3392	c.2897G>A	c.(2896-2898)cGa>cAa	p.R966Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	966					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCGATTCGATCGAAAGTTGGG	0.483													30	100					0	0	0	0	T	84089675	C	T	84089675	3	4	483	1	0	0	0	0	1	0	0	0	9430	884	31	1	269	1	MBTPS1	16	84089675	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	12671785	84089675	6265078	174	93234											
CA5A	763	broad.mit.edu	37	chr16	87960549	87960549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggaccgtccagagtgggtGcactgcagggagagagacgg	9	4	19	9	3	0	3	0	0	0	3	1	6	1	4	2	4	2	2	2	4	0	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:87960549G>A	ENST00000309893.2	-	2	210	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	49					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CAGAGTGGGTGCACTGCAGGG	0.632													4	12					0	0	0	0	A	87960549	G	A	87960549	3	1	483	1	0	0	0	0	1	0	0	0	2544	1319	46	4	796	4	CA5A	16	87960549	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	3870874	87960549	2394204	175	93235											
ANKRD11	29123	broad.mit.edu	37	chr16	89350234	89350234	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtccctgtccttctttcGgaagaagggctctctgtagt	7	14	10	10	1	2	1	0	0	2	1	6	2	4	2	2	2	0	2	2	2	4	4			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:89350234G>A	ENST00000301030.4	-	9	3176	c.2716C>T	c.(2716-2718)Cga>Tga	p.R906*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R906*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	906	Lys-rich.					nucleus		p.R906R(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCTTCTTTCGGAAGAAGGGC	0.527													25	60					0	0	0	0	A	89350234	G	A	89350234	4	1	483	1	0	0	0	0	0	1	0	0	639	1124	39	1	5295	1	ANKRD11	16	89350234	Nonsense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	1389685	89350234	1004519	176	93236											
TNK1	8711	broad.mit.edu	37	chr17	7286819	7286819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacggcacctccctgagccaGaggggggcctcaagtgtctg	7	6	14	14	1	2	2	1	1	1	1	3	2	3	2	4	4	1	1	4	4	1	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:7286819G>C	ENST00000570896.1	+	5	756	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	TNK1_ENST00000311668.2_Missense_Mutation_p.E104Q|TNK1_ENST00000576812.1_Missense_Mutation_p.E104Q			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	104					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCCTGAGCCAGAGGGGGGCCT	0.632													7	22					0	0	0	0	C	7286819	G	C	7286819	3	2	483	1	0	0	0	0	1	0	0	0	16411	943	33	2	320	2	TNK1	17	7286819	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		7286819	73908391	177	93237											
TNK1	8711	broad.mit.edu	37	chr17	7286862	7286862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagagggtgctgtttgcaGaggggagctgctgggttcag	6	9	18	8	0	1	2	1	0	0	2	1	3	1	3	1	4	4	6	1	4	0	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:7286862G>C	ENST00000570896.1	+	5	799	c.353G>C	c.(352-354)aGa>aCa	p.R118T	TNK1_ENST00000311668.2_Missense_Mutation_p.R118T|TNK1_ENST00000576812.1_Missense_Mutation_p.R118T			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	118	Protein kinase.			R -> K (in Ref. 2; AAC99412).	protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GCTGTTTGCAGAGGGGAGCTG	0.657													6	31					0	0	0	0	C	7286862	G	C	7286862	3	2	483	1	0	0	0	0	1	0	0	0	16411	942	33	2	363	2	TNK1	17	7286862	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	43	7286862	73908348	178	93238											
KCNAB3	9196	broad.mit.edu	37	chr17	7826832	7826832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgacacccccagcaagacaGagctgacaccctcactgcgg	11	4	9	17	2	1	3	1	1	0	2	2	4	1	3	3	1	3	2	3	1	1	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:7826832G>C	ENST00000303790.2	-	13	1078	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	360						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CAGCAAGACAGAGCTGACACC	0.582													5	13					0	0	0	0	C	7826832	G	C	7826832	3	2	483	1	0	0	0	0	1	0	0	0	8064	942	33	2	143	2	KCNAB3	17	7826832	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	539970	7826832	73368378	179	93239											
TNFAIP1	7126	broad.mit.edu	37	chr17	26671454	26671454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactctatgagactccccGcgtccccgacaactccttgt	7	10	6	18	3	1	1	0	1	1	1	4	3	4	1	6	0	2	0	6	0	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:26671454G>A	ENST00000226225.2	+	7	1046	c.779G>A	c.(778-780)cGc>cAc	p.R260H	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.R156H|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	260					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAGACTCCCCGCGTCCCCGAC	0.587													19	49					0	0	0	0	A	26671454	G	A	26671454	3	1	483	1	0	0	0	0	1	0	0	0	16366	1087	38	1	801	1	TNFAIP1	17	26671454	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	18844622	26671454	54523756	180	93240											
CWC25	54883	broad.mit.edu	37	chr17	36963199	36963199	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgctgtcagaggaccctGaagaccctggttacggtcag	8	9	12	12	1	3	3	2	1	1	2	3	4	3	4	2	3	2	2	2	3	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:36963199G>A	ENST00000225428.4	-	7	1018	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	CWC25_ENST00000536127.1_Nonsense_Mutation_p.Q178*	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	241										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						AGAGGACCCTGAAGACCCTGG	0.507													21	67					0	0	0	0	A	36963199	G	A	36963199	4	1	483	1	0	0	0	0	0	1	0	0	4101	1299	45	2	572	2	CWC25	17	36963199	Nonsense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	10291745	36963199	44232011	181	93241											
KRT33A	3883	broad.mit.edu	37	chr17	39502764	39502764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactccagccgcgcccgcaCgtccagcagcacctgatact	9	5	8	19	4	0	1	0	1	0	0	2	1	2	1	5	0	4	3	5	0	1	1	rs142473669		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:39502764C>T	ENST00000007735.3	-	6	1077	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	345	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGCGCCCGCACGTCCAGCAGC	0.607													31	121					0	0	0	0	T	39502764	C	T	39502764	3	4	483	1	0	0	0	0	1	0	0	0	8521	536	19	1	189	1	KRT33A	17	39502764	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2539565	39502764	41692446	182	93242											
ITGA2B	3674	broad.mit.edu	37	chr17	42452084	42452084	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcataggggagggaggacacGttgaaccatgcgtgcgactg	10	6	17	8	3	0	1	0	1	0	0	0	5	0	4	1	4	3	2	1	4	2	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:42452084G>C	ENST00000262407.5	-	28	2917	c.2886C>G	c.(2884-2886)aaC>aaG	p.N962K	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	962					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGGAGGACACGTTGAACCATG	0.617													15	52					0	0	0	0	C	42452084	G	C	42452084	3	2	483	1	0	0	0	0	1	0	0	0	7929	1136	40	3	245	3	ITGA2B	17	42452084	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2949320	42452084	38743126	183	93243											
TMC6	11322	broad.mit.edu	37	chr17	76115082	76115082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaagacgagcagcagcttGatgatctgcacggcggggag	11	6	16	8	3	1	4	0	2	1	2	1	6	1	5	0	3	4	4	0	3	2	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:76115082G>C	ENST00000590602.1	-	15	2016	c.1857C>G	c.(1855-1857)atC>atG	p.I619M	TMC6_ENST00000322914.3_Missense_Mutation_p.I619M|TMC6_ENST00000591436.1_Missense_Mutation_p.I198M|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.I198M|TMC6_ENST00000392467.3_Missense_Mutation_p.I619M|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	619						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGCAGCTTGATGATCTGCA	0.682													3	16					0	0	0	0	C	76115082	G	C	76115082	3	2	483	1	0	0	0	0	1	0	0	0	16083	1280	45	2	584	2	TMC6	17	76115082	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	33662998	76115082	5080128	184	93244											
ENPP7	339221	broad.mit.edu	37	chr17	77709258	77709258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacttcaccttccgggaCatcgagtttgagctcctgga	8	10	9	14	2	1	1	1	1	0	0	4	4	3	3	4	2	2	2	4	2	1	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:77709258C>T	ENST00000328313.5	+	3	1037	c.816C>T	c.(814-816)gaC>gaT	p.D272D		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	272					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTTCCGGGACATCGAGTTTG	0.572													32	95					0	0	0	0	T	77709258	C	T	77709258	2	4	483	1	0	0	0	0	0	0	0	1	5173	477	17	4		4	ENPP7	17	77709258	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1594176	77709258	3485952	185	93245											
RNF213	57674	broad.mit.edu	37	chr17	78247078	78247078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacaatggcgtcggcctcgGagggtgaaatggagtgtggg	8	7	18	8	3	0	1	0	1	0	0	2	3	0	3	2	6	0	0	2	6	2	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:78247078G>A	ENST00000582970.1	+	3	279	c.136G>A	c.(136-138)Gag>Aag	p.E46K	RNF213_ENST00000456466.1_Missense_Mutation_p.E46K|RNF213_ENST00000508628.2_Missense_Mutation_p.E46K|RNF213_ENST00000319921.4_Missense_Mutation_p.E46K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	46										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)			GTCGGCCTCGGAGGGTGAAAT	0.547													21	80					0	0	0	0	A	78247078	G	A	78247078	3	1	483	1	0	0	0	0	1	0	0	0	13562	1175	41	2	142	2	RNF213	17	78247078	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	537820	78247078	2948132	186	93246											
ZNF750	79755	broad.mit.edu	37	chr17	80789502	80789502	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctcgggtcttgggttcCgtagactgacagcaggggtg	5	11	17	8	2	2	2	0	1	2	1	4	2	3	2	1	4	1	3	1	4	1	3	rs35283702	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:80789502C>A	ENST00000269394.3	-	2	1662	c.829G>T	c.(829-831)Gga>Tga	p.G277*	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	277						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCTTGGGTTCCGTAGACTGAC	0.597													67	86					5.10508e-28	5.61971e-28	1	0	A	80789502	C	A	80789502	4	1	483	1	0	0	0	0	0	1	0	0	18226	661	23	3	1350	3	ZNF750	17	80789502	Nonsense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2542424	80789502	405708	187	93247											
TGIF1	7050	broad.mit.edu	37	chr18	3452158	3452158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggcactttggcctaccttCccccagcgccgtggtcctcc	3	9	10	19	3	0	0	0	0	0	0	3	0	3	0	7	3	2	1	7	3	1	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:3452158C>A	ENST00000330513.5	+	1	484	c.181C>A	c.(181-183)Ccc>Acc	p.P61T	TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000405385.3_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	61					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GGCCTACCTTCCCCCAGCGCC	0.721													21	63					2.89027e-11	3.02315e-11	1	0	A	3452158	C	A	3452158	3	1	483	1	0	0	0	0	1	0	0	0	15919	855	30	2	265	2	TGIF1	18	3452158	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		3452158	74625090	188	93248											
LRRC30	339291	broad.mit.edu	37	chr18	7231853	7231853	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctggagctgctgaacctCaacaacaatgacatccagac	14	6	8	13	0	1	3	1	2	0	1	2	4	2	4	3	1	6	2	3	1	4	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:7231853C>G	ENST00000383467.2	+	1	731	c.717C>G	c.(715-717)ctC>ctG	p.L239L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	239										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGCTGAACCTCAACAACAATG	0.577													20	76					0	0	0	0	G	7231853	C	G	7231853	2	3	483	1	0	0	0	0	0	0	0	1	9049	813	29	2		2	LRRC30	18	7231853	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	3779695	7231853	70845395	189	93249											
TXNDC2	84203	broad.mit.edu	37	chr18	9886265	9886265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactcaggaagaaacaagtGaaggtgatgctaatggtaag	16	7	13	5	0	1	3	1	2	0	1	1	4	1	4	0	3	2	3	0	3	6	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:9886265G>A	ENST00000306084.6	+	1	293	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	TXNDC2_ENST00000584255.1_Intron|TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000426718.3_Missense_Mutation_p.E32K|TXNDC2_ENST00000357775.4_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	32					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGAAACAAGTGAAGGTGATGC	0.473													7	20					0	0	0	0	A	9886265	G	A	9886265	3	1	483	1	0	0	0	0	1	0	0	0	16893	1291	45	2	96	2	TXNDC2	18	9886265	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2654412	9886265	68190983	190	93250											
PIAS2	9063	broad.mit.edu	37	chr18	44409730	44409730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggttggctggatacttTcatagcttctttcttcggtc	6	16	9	10	2	3	0	1	0	2	0	5	1	3	1	0	4	2	3	0	4	2	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:44409730T>C	ENST00000585916.1	-	10	1302	c.1303A>G	c.(1303-1305)Aaa>Gaa	p.K435E	PIAS2_ENST00000545673.1_Missense_Mutation_p.K145E|PIAS2_ENST00000324794.7_Missense_Mutation_p.K435E	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	435					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTGGATACTTTCATAGCTTCT	0.388													50	214					0	0	0	0	C	44409730	T	C	44409730	3	2	483	1	0	0	0	0	1	0	0	0	11948	1792	62	5	657	5	PIAS2	18	44409730	Missense_Mutation	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	34523465	44409730	33667518	191	93251											
DCC	1630	broad.mit.edu	37	chr18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccagccgatttgtccGtctcagctggcgcccacctg	4	11	11	15	3	1	0	1	0	1	0	4	1	3	0	5	2	2	2	5	2	0	2	rs138053380		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000581580.1_Missense_Mutation_p.R101H|DCC_ENST00000412726.1_Missense_Mutation_p.R294H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517													26	124					0	0	0	0	A	50683801	G	A	50683801	3	1	483	1	0	0	0	0	1	0	0	0	4314	1145	40	1	1367	1	DCC	18	50683801	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	6274071	50683801	27393447	192	93252											
KDM4B	23030	broad.mit.edu	37	chr19	5047575	5047575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcgagggcgtgaacaCgccctacctgtacttcggca	9	8	10	14	4	1	1	1	1	0	0	3	2	1	1	2	2	3	2	2	2	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:5047575C>T	ENST00000159111.4	+	6	739	c.521C>T	c.(520-522)aCg>aTg	p.T174M	KDM4B_ENST00000536461.1_Missense_Mutation_p.T174M|KDM4B_ENST00000381759.4_Missense_Mutation_p.T174M|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	174	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGCGTGAACACGCCCTACCTG	0.622													29	98					0	0	0	0	T	5047575	C	T	5047575	3	4	483	1	0	0	0	0	1	0	0	0	8182	536	19	1	535	1	KDM4B	19	5047575	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		5047575	54081408	193	93253											
TRIP10	9322	broad.mit.edu	37	chr19	6742999	6742999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagccagcaacagtccttCgtacagattctccaggaggt	10	10	9	12	1	2	1	1	0	1	1	5	2	3	2	3	2	4	2	3	2	2	4	rs148560112	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:6742999C>T	ENST00000313244.9	+	4	254	c.219C>T	c.(217-219)ttC>ttT	p.F73F	TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000596758.1_Silent_p.F73F|TRIP10_ENST00000313285.8_Silent_p.F73F|TRIP10_ENST00000600428.1_5'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	73	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	p.F73F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AACAGTCCTTCGTACAGATTC	0.582													23	82					0	0	0	0	T	6742999	C	T	6742999	2	4	483	1	0	0	0	0	0	0	0	1	16649	883	31	1		1	TRIP10	19	6742999	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1695424	6742999	52385984	194	93254											
ZNF558	148156	broad.mit.edu	37	chr19	8923829	8923829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgcttggtagaattcctCtttcctctgtcaccaccttc	6	15	7	13	0	3	1	1	0	2	1	6	1	5	1	4	2	1	2	4	2	2	5			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:8923829C>T	ENST00000601372.1	-	8	1028	c.317G>A	c.(316-318)aGa>aAa	p.R106K	ZNF558_ENST00000444186.2_Missense_Mutation_p.R35K|ZNF558_ENST00000301475.1_Missense_Mutation_p.R106K			Q96NG5	ZN558_HUMAN	zinc finger protein 558	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TAGAATTCCTCTTTCCTCTGT	0.463													6	10					0	0	0	0	T	8923829	C	T	8923829	3	4	483	1	0	0	0	0	1	0	0	0	18084	913	32	2	903	2	ZNF558	19	8923829	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2180830	8923829	50205154	195	93255											
KEAP1	9817	broad.mit.edu	37	chr19	10602926	10602926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacaggttgaagaactcctCttgcttggccacctgcagag	9	9	12	11	0	1	3	0	1	1	2	2	4	2	4	3	3	3	3	3	3	2	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:10602926C>T	ENST00000171111.5	-	3	1199	c.652G>A	c.(652-654)Gag>Aag	p.E218K	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.E218K	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	218	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E218Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AAGAACTCCTCTTGCTTGGCC	0.607													4	45					0	0	0	0	T	10602926	C	T	10602926	3	4	483	1	0	0	0	0	1	0	0	0	8193	922	32	2	1238	2	KEAP1	19	10602926	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1679097	10602926	48526057	196	93256											
ZNF44	51710	broad.mit.edu	37	chr19	12385822	12385822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagattttggtgctgatcatCaatgttctggttttcccatt	7	18	9	7	0	3	2	2	1	1	1	4	3	4	2	1	2	1	3	1	2	1	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:12385822C>G	ENST00000356109.5	-	4	419	c.301G>C	c.(301-303)Gat>Cat	p.D101H	ZNF44_ENST00000355684.5_Missense_Mutation_p.D53H	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	101	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGCTGATCATCAATGTTCTGG	0.313													5	33					0	0	0	0	G	12385822	C	G	12385822	3	3	483	1	0	0	0	0	1	0	0	0	18007	826	29	2	1698	2	ZNF44	19	12385822	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	1782896	12385822	46743161	197	93257											
CLEC17A	388512	broad.mit.edu	37	chr19	14705357	14705357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccaccaagacctccaagGgcaggtgagttggggctggg	8	6	16	11	0	0	2	0	1	0	1	2	2	2	2	4	5	0	4	4	5	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:14705357G>A	ENST00000547437.1	+	5	383	c.306G>A	c.(304-306)agG>agA	p.R102R	CLEC17A_ENST00000397439.2_Silent_p.R85R|CLEC17A_ENST00000417570.1_Silent_p.R102R	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	102						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GACCTCCAAGGGCAGGTGAGT	0.587													6	14					0	0	0	0	A	14705357	G	A	14705357	2	1	483	1	0	0	0	0	0	0	0	1	3531	1223	43	4		4	CLEC17A	19	14705357	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2319535	14705357	44423626	198	93258											
ZNF737	100129842	broad.mit.edu	37	chr19	20736542	20736542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccaggtttctgtagttctCtaacatcacattcctatata	11	15	5	10	0	3	0	1	0	2	0	5	1	4	0	2	1	1	3	2	1	5	8			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:20736542C>G	ENST00000427401.4	-	2	197	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	ZNF737_ENST00000596797.1_Missense_Mutation_p.E35Q	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	35					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTAGTTCTCTAACATCACA	0.378													38	170					0	0	0	0	G	20736542	C	G	20736542	3	3	483	1	0	0	0	0	1	0	0	0	18220	922	32	2	1519	2	ZNF737	19	20736542	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	6031185	20736542	38392441	199	93259											
CD22	933	broad.mit.edu	37	chr19	35831832	35831832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcaaaaccccatgccgattcGagaaggagacacagtgaccc	14	5	9	13	2	1	3	1	1	0	2	2	6	1	3	4	1	2	0	4	1	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:35831832G>C	ENST00000085219.5	+	7	1364	c.1298G>C	c.(1297-1299)cGa>cCa	p.R433P	CD22_ENST00000544992.2_Missense_Mutation_p.R433P|CD22_ENST00000270311.6_Missense_Mutation_p.R313P|CD22_ENST00000341773.6_Missense_Mutation_p.R256P|CD22_ENST00000536635.2_Missense_Mutation_p.R345P|CD22_ENST00000594250.1_Missense_Mutation_p.R256P|CD22_ENST00000419549.2_Missense_Mutation_p.R261P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	433	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ATGCCGATTCGAGAAGGAGAC	0.512													26	96					0	0	0	0	C	35831832	G	C	35831832	3	2	483	1	0	0	0	0	1	0	0	0	3014	1058	37	3	1320	3	CD22	19	35831832	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	15095290	35831832	23297151	200	93260											
FCGBP	8857	broad.mit.edu	37	chr19	40368706	40368706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgttaccgcagagcccGcacactgcgccatgatagct	9	8	9	15	3	0	2	0	1	0	1	1	2	1	2	4	0	4	4	4	0	2	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:40368706G>A	ENST00000221347.6	-	28	12649	c.12642C>T	c.(12640-12642)tgC>tgT	p.C4214C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4214	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCAGAGCCCGCACACTGCGC	0.607													6	668					0	0	0	0	A	40368706	G	A	40368706	2	1	483	1	0	0	0	0	0	0	0	1	5823	1079	38	1		1	FCGBP	19	40368706	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	4536874	40368706	18760277	201	93261											
CIC	23152	broad.mit.edu	37	chr19	42793500	42793500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgcggccagtgaggacatGacgagtgatgaggagcgcat	10	6	17	8	4	0	4	0	4	0	0	0	7	0	6	1	3	2	1	1	3	0	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:42793500G>A	ENST00000572681.2	+	9	4097	c.4029G>A	c.(4027-4029)atG>atA	p.M1343I	CIC_ENST00000575354.2_Missense_Mutation_p.M434I|CIC_ENST00000160740.3_Missense_Mutation_p.M434I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGAGGACATGACGAGTGATG	0.632			"Mis, F, S"		oligodendroglioma								12	35					0	0	0	0	A	42793500	G	A	42793500	3	1	483	1	0	0	0	0	1	0	0	0	3453	1290	45	2	1332	2	CIC	19	42793500	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	2424794	42793500	16335483	202	93262											
CIC	23152	broad.mit.edu	37	chr19	42794083	42794083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagtggggacagctctgggGaggacccagagggcaacaag	12	3	18	8	0	1	2	0	0	1	2	1	5	1	5	1	6	2	2	1	6	2	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:42794083G>A	ENST00000572681.2	+	10	4239	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	CIC_ENST00000575354.2_Missense_Mutation_p.E482K|CIC_ENST00000160740.3_Missense_Mutation_p.E482K			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCTCTGGGGAGGACCCAGA	0.602			"Mis, F, S"		oligodendroglioma								4	13					0	0	0	0	A	42794083	G	A	42794083	3	1	483	1	0	0	0	0	1	0	0	0	3453	1175	41	2	1478	2	CIC	19	42794083	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	583	42794083	16334900	203	93263											
TMEM145	284339	broad.mit.edu	37	chr19	42827747	42827747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctcagatcatgacccgcCcatcagcggccaacaagaac	12	4	9	16	2	3	3	3	1	0	2	3	3	3	3	4	2	3	0	4	2	3	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:42827747C>T	ENST00000301204.3	+	14	1248	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	403						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CATGACCCGCCCATCAGCGGC	0.627													12	40					0	0	0	0	T	42827747	C	T	42827747	3	4	483	1	0	0	0	0	1	0	0	0	16153	623	22	4	1261	4	TMEM145	19	42827747	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	33664	42827747	16301236	204	93264											
MYH14	79784	broad.mit.edu	37	chr19	50795567	50795567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagacacgcacctcccGggaggagatcttctcccaga	10	5	13	13	2	2	3	0	0	2	3	4	7	3	5	3	4	0	1	3	4	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:50795567G>A	ENST00000440075.2	+	37	5224	c.5177G>A	c.(5176-5178)cGg>cAg	p.R1726Q	MYH14_ENST00000262269.8_Missense_Mutation_p.R1726Q|MYH14_ENST00000376970.2_Missense_Mutation_p.R1718Q|MYH14_ENST00000425460.1_Missense_Mutation_p.R1693Q|MYH14_ENST00000598205.1_Missense_Mutation_p.R1693Q|MYH14_ENST00000601313.1_Missense_Mutation_p.R1726Q|MYH14_ENST00000596571.1_Missense_Mutation_p.R1685Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1685					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGCACCTCCCGGGAGGAGATC	0.632													3	7					0	0	0	0	A	50795567	G	A	50795567	3	1	483	1	0	0	0	0	1	0	0	0	10103	1116	39	1	5319	1	MYH14	19	50795567	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	7967820	50795567	8333416	205	93265											
ZNF416	55659	broad.mit.edu	37	chr19	58083539	58083539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacatttgctgctgtcaCgaggcctctccacagtgtga	7	12	9	13	1	2	1	1	1	1	0	4	2	3	1	3	1	2	2	3	1	0	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:58083539C>T	ENST00000196489.3	-	4	1955	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GCTGCTGTCACGAGGCCTCTC	0.468													6	270					0	0	0	0	T	58083539	C	T	58083539	3	4	483	1	0	0	0	0	1	0	0	0	17988	536	19	1	55	1	ZNF416	19	58083539	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	7287972	58083539	1045444	206	93266											
ZNF606	80095	broad.mit.edu	37	chr19	58491078	58491078	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggctctggttaaagatttGatggcattccttatattcat	9	17	9	6	0	2	2	1	1	1	1	3	2	3	2	1	3	0	3	1	3	4	6			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:58491078G>C	ENST00000341164.4	-	7	1590	c.970C>G	c.(970-972)Caa>Gaa	p.Q324E	ZNF606_ENST00000536132.1_Missense_Mutation_p.Q234E	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		TTAAAGATTTGATGGCATTCC	0.313													31	78					0	0	0	0	C	58491078	G	C	58491078	3	2	483	1	0	0	0	0	1	0	0	0	18127	1299	45	2	1412	2	ZNF606	19	58491078	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	407539	58491078	637905	207	93267											
PLCB4	5332	broad.mit.edu	37	chr20	9400478	9400478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctcaaaccagatttcatGaggcggcctgatcgaacatt	11	11	8	11	2	2	3	2	2	1	1	4	4	2	3	2	2	2	0	2	2	2	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:9400478G>A	ENST00000378501.2	+	22	2055	c.2040G>A	c.(2038-2040)atG>atA	p.M680I	PLCB4_ENST00000278655.4_Missense_Mutation_p.M680I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M680I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M692I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M692I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.M680I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	680	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.M680I(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						CAGATTTCATGAGGCGGCCTG	0.438													36	126					0	0	0	0	A	9400478	G	A	9400478	3	1	483	1	0	0	0	0	1	0	0	0	12102	1290	45	2	2166	2	PLCB4	20	9400478	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		9400478	53625042	208	93268											
RRBP1	6238	broad.mit.edu	37	chr20	17614170	17614170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagctttccgctgctgctCatcttgccgcacagcctctg	5	11	9	16	2	3	1	1	0	2	1	4	1	4	1	3	0	5	5	3	0	0	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:17614170C>T	ENST00000377813.1	-	8	2848	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	RRBP1_ENST00000360807.4_Missense_Mutation_p.E416K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E416K|RRBP1_ENST00000246043.4_Missense_Mutation_p.E849K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E190K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	849					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CGCTGCTGCTCATCTTGCCGC	0.612													14	49					0	0	0	0	T	17614170	C	T	17614170	3	4	483	1	0	0	0	0	1	0	0	0	13763	835	29	2	1759	2	RRBP1	20	17614170	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	8213692	17614170	45411350	209	93269											
GZF1	64412	broad.mit.edu	37	chr20	23345286	23345286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggttgctgactttgcttCatttcttgagtttgtctaca	6	18	9	8	0	3	2	1	2	2	0	3	2	3	2	0	1	3	5	0	1	1	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:23345286C>T	ENST00000338121.5	+	2	343	c.266C>T	c.(265-267)tCa>tTa	p.S89L	GZF1_ENST00000377051.2_Missense_Mutation_p.S89L|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	89	BTB.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTTTGCTTCATTTCTTGAG	0.413													23	58					0	0	0	0	T	23345286	C	T	23345286	3	4	483	1	0	0	0	0	1	0	0	0	6964	838	29	2	268	2	GZF1	20	23345286	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	5731116	23345286	39680234	210	93270											
HM13	81502	broad.mit.edu	37	chr20	30155980	30155980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccgactccatgcagcaGaagctagctggccctcgccg	7	6	12	16	3	0	1	0	0	0	1	2	2	1	1	4	2	4	4	4	2	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:30155980G>A	ENST00000335574.5	+	12	1258	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000340852.5_Intron|HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_Intron|HM13_ENST00000398174.3_Silent_p.Q378Q	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	374					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CCATGCAGCAGAAGCTAGCTG	0.701													7	29					0	0	0	0	A	30155980	G	A	30155980	2	1	483	1	0	0	0	0	0	0	0	1	7267	933	33	2		2	HM13	20	30155980	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	6810694	30155980	32869540	211	93271											
ZSWIM1	90204	broad.mit.edu	37	chr20	44511955	44511955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaacgaccgcatctggctgGctcaccgctggagaagccga	9	6	12	14	4	3	1	2	0	1	1	3	4	3	1	3	3	2	4	3	3	2	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:44511955G>A	ENST00000372523.1	+	2	819	c.724G>A	c.(724-726)Gct>Act	p.A242T	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.A242T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	242							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CATCTGGCTGGCTCACCGCTG	0.577													4	62					0	0	0	0	A	44511955	G	A	44511955	3	1	483	1	0	0	0	0	1	0	0	0	18331	1203	42	4	726	4	ZSWIM1	20	44511955	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	14355975	44511955	18513565	212	93272											
COL20A1	57642	broad.mit.edu	37	chr20	61929272	61929272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttctgtagcaagcggtctCctgaggctggctgtgctgcc	4	12	14	11	1	2	1	0	1	2	0	3	1	2	1	2	3	4	6	2	3	2	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:61929272C>T	ENST00000422202.1	+	2	161	c.93C>T	c.(91-93)ctC>ctT	p.L31L	COL20A1_ENST00000326996.6_Silent_p.L31L|COL20A1_ENST00000358894.6_Silent_p.L31L|COL20A1_ENST00000435874.1_Silent_p.L31L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	31	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CAAGCGGTCTCCTGAGGCTGG	0.617													6	27					0	0	0	0	T	61929272	C	T	61929272	2	4	483	1	0	0	0	0	0	0	0	1	3709	842	30	2		2	COL20A1	20	61929272	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	17417317	61929272	1096248	213	93273											
KCNJ6	3763	broad.mit.edu	37	chr21	39086695	39086695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgttgatatccgtctggttCaacgggatgaactccccctc	8	11	9	13	3	2	2	1	2	1	0	5	3	4	3	3	2	2	2	3	2	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr21:39086695C>T	ENST00000400482.3	-	3	1354	c.765G>A	c.(763-765)ttG>ttA	p.L255L	KCNJ6_ENST00000288309.6_Silent_p.L255L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	255					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCGTCTGGTTCAACGGGATGA	0.502													31	101					0	0	0	0	T	39086695	C	T	39086695	2	4	483	1	0	0	0	0	0	0	0	1	8108	825	29	2		2	KCNJ6	21	39086695	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		39086695	9043200	214	93274											
PCNT	5116	broad.mit.edu	37	chr21	47848407	47848407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcccagctgcgcatgacGcacctgcagaaccaggagaa	11	4	12	14	3	0	3	0	1	0	2	0	4	0	3	3	1	5	4	3	1	2	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr21:47848407G>A	ENST00000359568.5	+	35	7700	c.7593G>A	c.(7591-7593)acG>acA	p.T2531T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2531					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCGCATGACGCACCTGCAGA	0.672													14	32					0	0	0	0	A	47848407	G	A	47848407	2	1	483	1	0	0	0	0	0	0	0	1	11661	1074	38	1		1	PCNT	21	47848407	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	8761712	47848407	281488	215	93275											
TSSK2	23617	broad.mit.edu	37	chr22	19119533	19119533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctgggcgtgatcctgtaCatcatggtctgcggctccat	6	11	12	12	2	2	1	1	1	1	0	4	1	4	1	3	3	3	2	3	3	1	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:19119533C>T	ENST00000399635.2	+	1	1213	c.621C>T	c.(619-621)taC>taT	p.Y207Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	207	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TGATCCTGTACATCATGGTCT	0.602													34	122					0	0	0	0	T	19119533	C	T	19119533	2	4	483	1	0	0	0	0	0	0	0	1	16764	489	17	4		4	TSSK2	22	19119533	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08		19119533	32185033	216	93276											
LZTR1	8216	broad.mit.edu	37	chr22	21349277	21349277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcggcggaagcagcagcCgccccctcgcactcccttgg	5	6	13	17	4	0	0	0	0	0	0	2	1	1	1	4	3	4	3	4	3	1	1	rs148677674	by1000genomes	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:21349277C>T	ENST00000215739.8	+	16	2263	c.1904C>T	c.(1903-1905)cCg>cTg	p.P635L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.P616L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	635					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAGCAGCAGCCGCCCCCTCGC	0.607													26	80					0	0	0	0	T	21349277	C	T	21349277	3	4	483	1	0	0	0	0	1	0	0	0	9202	652	23	1	1966	1	LZTR1	22	21349277	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	2229744	21349277	29955289	217	93277											
DUSP18	150290	broad.mit.edu	37	chr22	31059759	31059759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaagaagtcacagagacGtgagttaggggagtcagcca	14	6	14	7	1	3	3	3	1	0	2	3	5	3	4	1	2	1	1	1	2	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:31059759G>A	ENST00000334679.3	-	2	737	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	DUSP18_ENST00000404885.1_Missense_Mutation_p.R78C|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R78C	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	78						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TCACAGAGACGTGAGTTAGGG	0.522													28	102					0	0	0	0	A	31059759	G	A	31059759	3	1	483	1	0	0	0	0	1	0	0	0	4853	1145	40	1	338	1	DUSP18	22	31059759	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	9710482	31059759	20244807	218	93278											
LIMK2	3985	broad.mit.edu	37	chr22	31662976	31662976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctccctgtaggtgacaCacaaagccacgggcaaagtg	12	5	10	14	1	0	1	0	1	0	0	1	1	1	1	3	2	1	2	3	2	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:31662976C>T	ENST00000331728.4	+	9	1162	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	LIMK2_ENST00000333611.4_Missense_Mutation_p.H329Y|LIMK2_ENST00000444929.2_Missense_Mutation_p.H104Y|LIMK2_ENST00000340552.4_Missense_Mutation_p.H329Y|LIMK2_ENST00000406516.1_Missense_Mutation_p.H272Y	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	350	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GTAGGTGACACACAAAGCCAC	0.488													9	30					0	0	0	0	T	31662976	C	T	31662976	3	4	483	1	0	0	0	0	1	0	0	0	8856	478	17	4	1139	4	LIMK2	22	31662976	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	603217	31662976	19641590	219	93279											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31850333	31850333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcagacctgcttctacctCctccactgaaagcacaaccc	10	9	4	18	0	2	2	1	1	1	1	4	2	4	2	5	0	4	2	5	0	3	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:31850333C>T	ENST00000397525.1	-	10	1532	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E116K|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E274K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E437K|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E437K	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	437						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTTCTACCTCCTCCACTGAA	0.463													15	62					0	0	0	0	T	31850333	C	T	31850333	3	4	483	1	0	0	0	0	1	0	0	0	5073	864	30	2	1691	2	EIF4ENIF1	22	31850333	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	187357	31850333	19454233	220	93280											
APOL5	80831	broad.mit.edu	37	chr22	36124944	36124944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgggaagacaccgacaatGagaagaggtaagtgggacgc	14	3	15	9	3	0	3	0	1	0	3	0	7	0	5	2	3	0	1	2	3	4	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:36124944G>A	ENST00000249044.2	+	4	1301	c.1301G>A	c.(1300-1302)tGa>tAa	p.*434*		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	0					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CACCGACAATGAGAAGAGGTA	0.602													9	31					0	0	0	0	A	36124944	G	A	36124944	2	1	483	1	0	0	0	0	0	0	0	1	811	1285	45	2		2	APOL5	22	36124944	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	4274611	36124944	15179622	221	93281											
ALG12	79087	broad.mit.edu	37	chr22	50302947	50302947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaagcacctttccttccGgccaagtgagctgccgccaa	10	7	8	16	2	0	1	0	1	0	0	2	1	2	1	7	1	3	2	7	1	3	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:50302947G>C	ENST00000330817.5	-	6	986	c.713C>G	c.(712-714)cCg>cGg	p.P238R		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	238					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		p.P238L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTTTCCTTCCGGCCAAGTGAG	0.502													18	79					0	0	0	0	C	50302947	G	C	50302947	3	2	483	1	0	0	0	0	1	0	0	0	514	1116	39	3	773	3	ALG12	22	50302947	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	14178003	50302947	1001619	222	93282											
MAGEB18	286514	broad.mit.edu	37	chrX	26157729	26157729	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgggtgtgatctttctGaatggcaaccgtgccccaga	8	10	12	11	1	2	3	0	2	2	1	2	3	2	3	3	2	2	2	3	2	2	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:26157729G>A	ENST00000325250.1	+	2	814	c.627G>A	c.(625-627)ctG>ctA	p.L209L		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	209	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGATCTTTCTGAATGGCAACC	0.458													12	41					0	0	0	0	A	26157729	G	A	26157729	2	1	483	1	0	0	0	0	0	0	0	1	9244	1277	45	2		2	MAGEB18	23	26157729	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08		26157729	129112831	223	93283											
DMD	1756	broad.mit.edu	37	chrX	32382754	32382754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgattcatccaaaagtGtgtcagcctgaatgatccac	11	12	7	11	0	3	3	2	3	1	0	6	3	5	3	3	0	1	0	3	0	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:32382754G>T	ENST00000357033.4	-	36	5305	c.5099C>A	c.(5098-5100)aCa>aAa	p.T1700K	DMD_ENST00000378677.2_Missense_Mutation_p.T1696K	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	1700	Interaction with SYNM (By similarity).				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			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)				ATCCAAAAGTGTGTCAGCCTG	0.383													33	146					2.08457e-15	2.21435e-15	1	0	T	32382754	G	T	32382754	3	4	483	1	0	0	0	0	1	0	0	0	4617	1377	48	4	6282	4	DMD	23	32382754	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	6225025	32382754	122887806	224	93284											
LANCL3	347404	broad.mit.edu	37	chrX	37431383	37431383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcccgcttttcgccaCggcccgggaacgctacctgc	6	6	12	17	5	0	1	0	0	0	1	1	2	0	2	4	2	4	3	4	2	2	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:37431383C>T	ENST00000378621.3	+	1	562	c.260C>T	c.(259-261)aCg>aTg	p.T87M	LANCL3_ENST00000378619.3_Missense_Mutation_p.T87M|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	87							catalytic activity			lung(4)|pancreas(1)	5						CTTTTCGCCACGGCCCGGGAA	0.721													4	35					0	0	0	0	T	37431383	C	T	37431383	3	4	483	1	0	0	0	0	1	0	0	0	8675	536	19	1	262	1	LANCL3	23	37431383	Missense_Mutation	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	5048629	37431383	117839177	225	93285											
HUWE1	10075	broad.mit.edu	37	chrX	53560365	53560365	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataggcaggcagatccagctGattaaaactaaggaaagaag	18	6	11	6	0	0	3	0	1	0	2	1	4	1	4	1	3	2	3	1	3	6	3			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:53560365G>C	ENST00000342160.3	-	83	13487	c.13030C>G	c.(13030-13032)Cag>Gag	p.Q4344E	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q4344E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4344	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCCAGCTGATTAAAACTA	0.512													5	24					0	0	0	0	C	53560365	G	C	53560365	3	2	483	1	0	0	0	0	1	0	0	0	7514	1299	45	2	98	2	HUWE1	23	53560365	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	16128982	53560365	101710195	226	93286											
HEPH	9843	broad.mit.edu	37	chrX	65474920	65474920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatcccagagaggtctggCcctgggcccaatgactctgc	9	7	11	14	0	2	2	0	1	2	1	3	3	3	2	3	3	2	0	3	3	2	0			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:65474920C>T	ENST00000519389.1	+	16	2948	c.2769C>T	c.(2767-2769)ggC>ggT	p.G923G	HEPH_ENST00000374727.3_Silent_p.G872G|HEPH_ENST00000343002.2_Silent_p.G869G|HEPH_ENST00000336279.5_Silent_p.G602G|HEPH_ENST00000441993.2_Silent_p.G872G|HEPH_ENST00000419594.1_Silent_p.G680G			Q9BQS7	HEPH_HUMAN	hephaestin	869	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGAGGTCTGGCCCTGGGCCCA	0.493													22	68					0	0	0	0	T	65474920	C	T	65474920	2	4	483	1	0	0	0	0	0	0	0	1	7104	726	26	4		4	HEPH	23	65474920	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	11914555	65474920	89795640	227	93287											
GPRASP1	9737	broad.mit.edu	37	chrX	101910480	101910480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggacaaggtctgaggaaGaagaggtcattggtccctgg	11	7	15	8	0	2	3	1	1	1	2	3	5	3	5	2	6	0	0	2	6	3	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:101910480G>A	ENST00000537097.1	+	6	2452	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	GPRASP1_ENST00000444152.1_Missense_Mutation_p.E547K|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E547K|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E547K	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	547	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTCTGAGGAAGAAGAGGTCAT	0.512													55	200					0	0	0	0	A	101910480	G	A	101910480	3	1	483	1	0	0	0	0	1	0	0	0	6772	943	33	2	1641	2	GPRASP1	23	101910480	Missense_Mutation	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	36435560	101910480	53360080	228	93288											
TRPC5	7224	broad.mit.edu	37	chrX	111022220	111022220	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgattaaattaccttaaaaTtttcttctgtaagtccctca	13	17	3	8	0	3	1	1	1	2	0	4	1	4	1	2	0	1	1	2	0	6	7			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:111022220T>G	ENST00000262839.2	-	10	3143	c.2225A>C	c.(2224-2226)aAt>aCt	p.N742T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	742					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACCTTAAAATTTTCTTCTGT	0.318													14	66					0	0	0	0	G	111022220	T	G	111022220	3	3	483	1	0	0	0	0	1	0	0	0	16677	1493	52	5	704	5	TRPC5	23	111022220	Missense_Mutation	SNP	T	TCGA-T2-A6WX-01A-12D-A34J-08	9111740	111022220	44248340	229	93289											
MAGEC1	9947	broad.mit.edu	37	chrX	140994102	140994102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccccagtctcctctccaGattcctgtgagctcctcctc	4	14	5	18	0	2	2	0	1	2	1	9	2	6	2	7	0	1	1	7	0	0	2			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:140994102G>A	ENST00000285879.4	+	4	1198	c.912G>A	c.(910-912)caG>caA	p.Q304Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	304							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGATTCCTGTGA	0.498										HNSCC(15;0.026)			73	403					0	0	0	0	A	140994102	G	A	140994102	2	1	483	1	0	0	0	0	0	0	0	1	9249	933	33	2		2	MAGEC1	23	140994102	Silent	SNP	G	TCGA-T2-A6WX-01A-12D-A34J-08	29971882	140994102	14276458	230	93290											
ABCD1	215	broad.mit.edu	37	chrX	152991459	152991459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagcctggccctcggccatCgccggcctcgtggtgttcct	3	9	12	17	4	0	0	0	0	0	0	4	0	1	0	6	4	1	1	6	4	0	1			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:152991459C>T	ENST00000218104.3	+	1	1137	c.738C>T	c.(736-738)atC>atT	p.I246I	ABCD1_ENST00000370129.4_Silent_p.I61I	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	246	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGGCCATCGCCGGCCTCG	0.706													10	28					0	0	0	0	T	152991459	C	T	152991459	2	4	483	1	0	0	0	0	0	0	0	1	60	874	31	1		1	ABCD1	23	152991459	Silent	SNP	C	TCGA-T2-A6WX-01A-12D-A34J-08	11997357	152991459	2279101	231	93291											
NBPF1	55672	broad.mit.edu	37	chr1	16895631	16895631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatgtgccgctgtaagActtgtacgaggccaacattt	11	11	11	8	2	0	2	0	1	0	1	0	3	0	2	2	1	3	3	2	1	4	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:16895631A>G	ENST00000430580.2	-	23	3438	c.2551T>C	c.(2551-2553)Tct>Cct	p.S851P	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	851	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCGCTGTAAGACTTGTACGAG	0.488													115	1139					0	0	0	0	G	16895631	A	G	16895631	3	3	484	1	0	0	0	0	1	0	0	0	10262	275	10	5	901	5	NBPF1	1	16895631	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08		16895631	232354990	1	93292											
SNRNP40	9410	broad.mit.edu	37	chr1	31734445	31734445	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgggcagcttatacaataTtctcctgcttgtggtatccc	7	13	9	12	1	1	0	0	0	1	0	3	0	2	0	3	2	3	4	3	2	5	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:31734445T>A	ENST00000263694.4	-	9	973	c.955A>T	c.(955-957)Ata>Tta	p.I319L	SNRNP40_ENST00000446633.2_Missense_Mutation_p.I319L|SNRNP40_ENST00000373720.3_Missense_Mutation_p.I89L|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	319						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TTATACAATATTCTCCTGCTT	0.502													17	30					0	0	0	0	A	31734445	T	A	31734445	3	1	484	1	0	0	0	0	1	0	0	0	14944	1493	52	5	126	5	SNRNP40	1	31734445	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	14838814	31734445	217516176	2	93293											
IPP	3652	broad.mit.edu	37	chr1	46211901	46211901	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgaacaaagctgcaaaGtaaggactgctggcagccaa	15	5	11	10	0	0	1	0	1	0	0	0	2	0	2	2	2	5	5	2	2	5	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:46211901G>T	ENST00000396478.3	-	2	285	c.183C>A	c.(181-183)taC>taA	p.Y61*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	61	BTB.					actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAGCTGCAAAGTAAGGACTGC	0.418													31	65					1.16021e-09	1.2512e-09	1	0	T	46211901	G	T	46211901	4	4	484	1	0	0	0	0	0	1	0	0	7853	1024	36	4	1705	4	IPP	1	46211901	Nonsense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	14477456	46211901	203038720	3	93294											
CACHD1	57685	broad.mit.edu	37	chr1	65157042	65157042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacaggaggacagtgaaaAtcctccatgcaacaatgacc	15	5	8	13	0	0	2	0	2	0	0	2	4	2	4	4	2	2	1	4	2	4	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:65157042A>G	ENST00000371073.2	+	27	3623	c.3623A>G	c.(3622-3624)aAt>aGt	p.N1208S	CACHD1_ENST00000290039.5_Missense_Mutation_p.N1157S|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1208					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACAGTGAAAATCCTCCATGC	0.502													45	90					0	0	0	0	G	65157042	A	G	65157042	3	3	484	1	0	0	0	0	1	0	0	0	2562	101	4	5	3576	5	CACHD1	1	65157042	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08	18945141	65157042	184093579	4	93295											
WDR78	79819	broad.mit.edu	37	chr1	67370926	67370926	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtttttctacagttttCagttcaggtggaataagcac	9	17	9	6	0	3	0	2	0	1	0	3	1	3	1	0	3	2	4	0	3	3	8			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:67370926C>A	ENST00000371026.3	-	2	358	c.303G>T	c.(301-303)ctG>ctT	p.L101L	WDR78_ENST00000371022.3_Silent_p.L101L|WDR78_ENST00000371023.3_Silent_p.L101L|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000488333.1_Silent_p.L29L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	101										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTACAGTTTTCAGTTCAGGTG	0.353													39	146					1.67305e-13	1.89077e-13	1	0	A	67370926	C	A	67370926	2	1	484	1	0	0	0	0	0	0	0	1	17424	813	29	2		2	WDR78	1	67370926	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	2213884	67370926	181879695	5	93296											
TTLL7	79739	broad.mit.edu	37	chr1	84417571	84417571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgctgtaatggttccCttctttttcttctttctgac	5	21	5	10	0	4	1	0	1	4	0	5	1	5	1	1	1	1	3	1	1	1	8			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:84417571C>G	ENST00000260505.8	-	3	491	c.114G>C	c.(112-114)aaG>aaC	p.K38N	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	38	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAATGGTTCCCTTCTTTTTCT	0.363													4	92					0	0	0	0	G	84417571	C	G	84417571	3	3	484	1	0	0	0	0	1	0	0	0	16828	680	24	4	2625	4	TTLL7	1	84417571	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	17046645	84417571	164833050	6	93297											
BRDT	676	broad.mit.edu	37	chr1	92445286	92445286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattctgaagatgagcgagTtaagcgtcttgcaaagcttc	11	12	11	7	2	2	4	0	3	2	1	3	5	2	4	0	0	4	3	0	0	3	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:92445286T>G	ENST00000370389.2	+	8	1964	c.1040T>G	c.(1039-1041)gTt>gGt	p.V347G	BRDT_ENST00000402388.1_Missense_Mutation_p.V420G|BRDT_ENST00000399546.2_Missense_Mutation_p.V420G|BRDT_ENST00000394530.3_Missense_Mutation_p.V374G|BRDT_ENST00000362005.3_Missense_Mutation_p.V420G	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	420	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GATGAGCGAGTTAAGCGTCTT	0.383													12	99					0	0	0	0	G	92445286	T	G	92445286	3	3	484	1	0	0	0	0	1	0	0	0	1516	1725	60	5	1285	5	BRDT	1	92445286	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	8027715	92445286	156805335	7	93298											
DENND2C	163259	broad.mit.edu	37	chr1	115161057	115161057	+	Missense_Mutation	SNP	T	T	G																															aagaatgtaactttaccttcTtcttccctcttttagattca																										TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:115161057T>G	ENST00000393274.1	-	8	1899	c.1274A>C	c.(1273-1275)aAg>aCg	p.K425T	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.K368T|DENND2C_ENST00000393277.1_Missense_Mutation_p.K425T	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	425										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTACCTTCTTCTTCCCTCT	0.348													31	63					0	0	0	0	G	115161057	T	G	115161057	3	3	484	1	0	0	0	0	1	0	0	0	4467	1609	56	5	1568	5	DENND2C	1	115161057	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	22715771	115161057	134089564	8	93299	1123	2									
DENND2C	163259	broad.mit.edu	37	chr1	115161065	115161065	+	Missense_Mutation	SNP	T	T	A																															aactttaccttcttcttcccTcttttagattcaaatatgtc																										TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:115161065T>A	ENST00000393274.1	-	8	1891	c.1266A>T	c.(1264-1266)agA>agT	p.R422S	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R365S|DENND2C_ENST00000393277.1_Missense_Mutation_p.R422S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	422										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTCTTCCCTCTTTTAGATT	0.348													27	60					0	0	0	0	A	115161065	T	A	115161065	3	1	484	1	0	0	0	0	1	0	0	0	4467	1548	54	5	1576	5	DENND2C	1	115161065	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	8	115161065	134089556	9	93300	1123	2									
PAPPA2	60676	broad.mit.edu	37	chr1	176526050	176526050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccaagtccaggcagCgtcgccaagtgtggaagagg	9	5	17	10	2	0	1	0	0	0	1	2	2	1	2	3	4	1	2	3	4	3	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:176526050C>T	ENST00000367662.3	+	2	1756	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R198C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	198					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCCAGGCAGCGTCGCCAAGT	0.577													24	115					0	0	0	0	T	176526050	C	T	176526050	3	4	484	1	0	0	0	0	1	0	0	0	11504	768	27	1	594	1	PAPPA2	1	176526050	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	61364985	176526050	72724571	10	93301											
RGL1	23179	broad.mit.edu	37	chr1	183853897	183853897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaccactgcctgggctGcatttggtctcgaagggata	7	10	12	12	1	2	0	1	0	1	0	3	2	2	1	3	3	2	2	3	3	2	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:183853897G>A	ENST00000304685.3	+	8	1342	c.881G>A	c.(880-882)tGc>tAc	p.C294Y	RGL1_ENST00000367531.1_Missense_Mutation_p.C294Y|RGL1_ENST00000536277.1_Missense_Mutation_p.C257Y|RGL1_ENST00000539189.1_Missense_Mutation_p.C259Y|RGL1_ENST00000360851.3_Missense_Mutation_p.C259Y	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	259	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGCCTGGGCTGCATTTGGTCT	0.453													26	57					0	0	0	0	A	183853897	G	A	183853897	3	1	484	1	0	0	0	0	1	0	0	0	13358	1319	46	4	907	4	RGL1	1	183853897	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	7327847	183853897	65396724	11	93302											
KLHDC8A	55220	broad.mit.edu	37	chr1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgaggaagaacgatcGttccatcttcagccatcccc	9	11	7	14	2	3	2	1	1	2	1	6	4	5	3	4	1	2	1	4	1	2	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	260										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACGATCGTTCCATCTTC	0.517													14	35					0	0	0	0	A	205307704	G	A	205307704	4	1	484	1	0	0	0	0	0	1	0	0	8414	1153	40	1	282	1	KLHDC8A	1	205307704	Nonsense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	21453807	205307704	43942917	12	93303											
USH2A	7399	broad.mit.edu	37	chr1	215848734	215848734	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaacaggctcagaccagctCagctcaacactggtggactt	11	9	9	12	0	3	1	3	0	0	1	3	2	3	2	1	3	4	3	1	3	2	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:215848734C>G	ENST00000366943.2	-	63	12905	c.12519G>C	c.(12517-12519)ctG>ctC	p.L4173L	USH2A_ENST00000307340.3_Silent_p.L4173L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4173	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGACCAGCTCAGCTCAACAC	0.522										HNSCC(13;0.011)			16	85					0	0	0	0	G	215848734	C	G	215848734	2	3	484	1	0	0	0	0	0	0	0	1	17132	813	29	2		2	USH2A	1	215848734	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	10541030	215848734	33401887	13	93304											
KCNK1	3775	broad.mit.edu	37	chr1	233802400	233802400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcatcatctactccGtcattggcattcccttcacc	6	14	4	17	1	5	0	3	0	2	0	7	0	7	0	4	1	2	2	4	1	1	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:233802400G>A	ENST00000366621.3	+	2	583	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.V23I	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	139						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CATCTACTCCGTCATTGGCAT	0.582													25	50					0	0	0	0	A	233802400	G	A	233802400	3	1	484	1	0	0	0	0	1	0	0	0	8111	1145	40	1	421	1	KCNK1	1	233802400	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	17953666	233802400	15448221	14	93305											
SDCCAG8	10806	broad.mit.edu	37	chr1	243434354	243434354	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccgtcaagaagaagaaaaAtgtcccccttggtaagtatc	14	9	8	10	1	1	3	1	0	0	3	4	3	3	3	3	1	0	2	3	1	7	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:243434354A>C	ENST00000366541.3	+	3	413	c.295A>C	c.(295-297)Atg>Ctg	p.M99L	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.M99L|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.M99L|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	99					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AAGAAGAAAAATGTCCCCCTT	0.353													17	59					0	0	0	0	C	243434354	A	C	243434354	3	2	484	1	0	0	0	0	1	0	0	0	14046	101	4	5	305	5	SDCCAG8	1	243434354	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08	9631954	243434354	5816267	15	93306											
NBAS	51594	broad.mit.edu	37	chr2	15615864	15615864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgacttgaggtgatggttCaaaccattcacaggattttc	11	13	10	7	0	2	3	2	3	0	0	3	4	2	4	1	3	1	1	1	3	1	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:15615864C>G	ENST00000281513.5	-	14	1313	c.1288G>C	c.(1288-1290)Gaa>Caa	p.E430Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E430Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	430										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGTGATGGTTCAAACCATTCA	0.398													24	50					0	0	0	0	G	15615864	C	G	15615864	3	3	484	1	0	0	0	0	1	0	0	0	10256	835	29	2	5983	2	NBAS	2	15615864	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		15615864	227583509	16	93307											
DDX1	1653	broad.mit.edu	37	chr2	15760415	15760416	+	Frame_Shift_Ins	INS	-	-	T																															attttcctacatgggttgacINSttaaaaggagaagactctgt																										TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:15760415_15760416insT	ENST00000381341.2	+	18	1679_1680	c.1290_1291insT	c.(1288-1293)gataaafs	p.K431fs	DDX1_ENST00000233084.3_Frame_Shift_Ins_p.K431fs			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	431	Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CATGGGTTGACTTAAAAGGAGA	0.426													30	88	---	---	---	---					T	15760416	-	T	15760415	7	5	484	1	0	1	1	0	0	0	0	0	4373	564	20	0	1356	0	DDX1	2	15760415	Frame_Shift_Ins	INS	-	TCGA-T2-A6WZ-01A-21D-A34J-08	144551	15760415	227438958	17	93308											
BIRC6	57448	broad.mit.edu	37	chr2	32689715	32689715	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattcatccatctgatgttAttccacccactccaaaaaca	13	12	2	14	0	3	1	2	1	1	0	6	1	6	1	4	0	1	1	4	0	3	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:32689715A>T	ENST00000421745.2	+	25	5214	c.5080A>T	c.(5080-5082)Att>Ttt	p.I1694F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1694					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)					ATCTGATGTTATTCCACCCAC	0.493													16	38					0	0	0	0	T	32689715	A	T	32689715	3	4	484	1	0	0	0	0	1	0	0	0	1443	449	16	5	5178	5	BIRC6	2	32689715	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08	16929300	32689715	210509658	18	93309											
ZFP36L2	678	broad.mit.edu	37	chr2	43452555	43452556	+	Frame_Shift_Ins	INS	-	-	A																															tgcaggaggtgctggctgcgINSatcgccgttctcgctaaacg																										TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:43452555_43452556insA	ENST00000282388.3	-	2	680_681	c.387_388insT	c.(385-390)gagcagfs	p.EQ129fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	129					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCTGGCTGCGATCGCCGTTCT	0.658													15	22	---	---	---	---					A	43452556	-	A	43452555	7	5	484	1	0	1	1	0	0	0	0	0	17742	1058	37	0	1100	0	ZFP36L2	2	43452555	Frame_Shift_Ins	INS	-	TCGA-T2-A6WZ-01A-21D-A34J-08	10762840	43452555	199746818	19	93310											
PCBP1	5093	broad.mit.edu	37	chr2	70315336	70315336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgctggcgtgccgcagtCtgtcaccgagtgtgtcaagc	6	9	13	13	4	3	0	2	0	1	0	4	1	3	0	2	1	2	2	2	1	1	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:70315336C>A	ENST00000303577.5	+	1	752	c.461C>A	c.(460-462)tCt>tAt	p.S154Y	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	154	KH 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GTGCCGCAGTCTGTCACCGAG	0.627													26	43					3.28513e-13	3.68739e-13	1	0	A	70315336	C	A	70315336	3	1	484	1	0	0	0	0	1	0	0	0	11571	913	32	2	463	2	PCBP1	2	70315336	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	26862781	70315336	172884037	20	93311											
ZNF638	27332	broad.mit.edu	37	chr2	71629092	71629092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgttttgaaggaaacaGaagaaatgtgtgtgatgctt	14	14	11	2	0	0	4	0	2	0	2	0	5	0	5	0	1	2	2	0	1	5	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:71629092G>C	ENST00000409544.1	+	16	3334	c.2704G>C	c.(2704-2706)Gaa>Caa	p.E902Q	ZNF638_ENST00000355812.3_Missense_Mutation_p.E902Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.E902Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	902					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAGGAAACAGAAGAAATGTG	0.264													12	54					0	0	0	0	C	71629092	G	C	71629092	3	2	484	1	0	0	0	0	1	0	0	0	18150	943	33	2	2762	2	ZNF638	2	71629092	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	1313756	71629092	171570281	21	93312											
IMMT	10989	broad.mit.edu	37	chr2	86371918	86371919	+	Frame_Shift_Ins	INS	-	-	T																															atagtaggtgtttctgcagaINStgaggtcttcatgctgtact																										TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:86371918_86371919insT	ENST00000410111.3	-	15	2136_2137	c.1749_1750insA	c.(1747-1752)tcctgcfs	p.C584fs	IMMT_ENST00000254636.5_Frame_Shift_Ins_p.C485fs|IMMT_ENST00000409051.2_Frame_Shift_Ins_p.C537fs|IMMT_ENST00000449247.2_Frame_Shift_Ins_p.C573fs|IMMT_ENST00000442664.2_Frame_Shift_Ins_p.C583fs	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	584						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTTCTGCAGATGAGGTCTTCA	0.47													34	31	---	---	---	---					T	86371919	-	T	86371918	7	5	484	1	0	1	1	0	0	0	0	0	7771	333	12	0	530	0	IMMT	2	86371918	Frame_Shift_Ins	INS	-	TCGA-T2-A6WZ-01A-21D-A34J-08	14742826	86371918	156827455	22	93313											
SLC35F5	80255	broad.mit.edu	37	chr2	114482973	114482973	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacaaccacaggaactctGagagtactgttccaataagg	15	7	8	11	0	1	1	0	1	1	1	2	3	2	2	3	2	3	2	3	2	5	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:114482973G>C	ENST00000245680.2	-	12	1645	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	411					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CAGGAACTCTGAGAGTACTGT	0.313													24	325					0	0	0	0	C	114482973	G	C	114482973	4	2	484	1	0	0	0	0	0	1	0	0	14680	1294	45	2	355	2	SLC35F5	2	114482973	Nonsense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	28111055	114482973	128716400	23	93314											
SAP130	79595	broad.mit.edu	37	chr2	128767876	128767876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtagcatgcgccgctgtcGtagtgatgactggagactga	9	9	14	9	3	0	4	0	3	0	1	1	5	0	4	1	1	2	4	1	1	2	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:128767876G>A	ENST00000357702.5	-	7	1045	c.914C>T	c.(913-915)aCg>aTg	p.T305M	SAP130_ENST00000259234.6_Missense_Mutation_p.T279M|SAP130_ENST00000259235.3_Missense_Mutation_p.T305M	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	305					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.T305M(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGCCGCTGTCGTAGTGATGAC	0.512													23	57					0	0	0	0	A	128767876	G	A	128767876	3	1	484	1	0	0	0	0	1	0	0	0	13916	1145	40	1	2397	1	SAP130	2	128767876	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	14284903	128767876	114431497	24	93315											
TNFAIP6	7130	broad.mit.edu	37	chr2	152222683	152222683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattattgattatggaatcCgtctcaataggagtgaaaga	14	12	10	5	1	1	3	1	2	1	1	3	5	2	5	1	2	0	1	1	2	6	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:152222683C>T	ENST00000243347.3	+	3	421	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	116	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTATGGAATCCGTCTCAATAG	0.428													35	109					0	0	0	0	T	152222683	C	T	152222683	3	4	484	1	0	0	0	0	1	0	0	0	16369	652	23	1	356	1	TNFAIP6	2	152222683	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	23454807	152222683	90976690	25	93316											
TTN	7273	broad.mit.edu	37	chr2	179480379	179480379	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtactcacttgcaggagttGacatatttacaggttcatca	11	14	8	8	0	3	1	3	1	0	0	3	2	3	2	0	2	3	4	0	2	3	7			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:179480379G>C	ENST00000589042.1	-	258	48673	c.48449C>G	c.(48448-48450)tCa>tGa	p.S16150*	TTN_ENST00000342175.6_Nonsense_Mutation_p.S7277*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S7085*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S7210*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S13582*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S14509*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14509	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGGAGTTGACATATTTAC	0.403													15	266					0	0	0	0	C	179480379	G	C	179480379	4	2	484	1	0	0	0	0	0	1	0	0	16831	1294	45	2	59664	2	TTN	2	179480379	Nonsense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	27257696	179480379	63718994	26	93317											
TTN	7273	broad.mit.edu	37	chr2	179481676	179481676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacttggaaccaggatcgtGataggatttgggacaataac	13	10	12	6	1	0	1	0	1	0	0	1	5	0	5	1	4	3	1	1	4	5	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:179481676G>C	ENST00000589042.1	-	256	48164	c.47940C>G	c.(47938-47940)atC>atG	p.I15980M	TTN_ENST00000342175.6_Missense_Mutation_p.I7107M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I6915M|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7040M|TTN_ENST00000342992.6_Missense_Mutation_p.I13412M|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I14339M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14339	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGATCGTGATAGGATTTG	0.418													26	190					0	0	0	0	C	179481676	G	C	179481676	3	2	484	1	0	0	0	0	1	0	0	0	16831	1280	45	2	60181	2	TTN	2	179481676	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	1297	179481676	63717697	27	93318											
SESTD1	91404	broad.mit.edu	37	chr2	180016043	180016043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccatgtgatcataggtgaGactcccaccaaaatcttctg	11	11	8	11	0	3	2	1	2	2	1	5	3	5	2	3	1	0	0	3	1	3	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:180016043G>C	ENST00000428443.3	-	6	761	c.445C>G	c.(445-447)Ctc>Gtc	p.L149V		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	149	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATAGGTGAGACTCCCACCA	0.313													27	101					0	0	0	0	C	180016043	G	C	180016043	3	2	484	1	0	0	0	0	1	0	0	0	14214	942	33	2	1697	2	SESTD1	2	180016043	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	534367	180016043	63183330	28	93319											
HSPE1	3336	broad.mit.edu	37	chr2	198365864	198365864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttgaaaggagtgctgctGaaactgtaaccaaaggaggc	13	8	14	6	0	0	2	0	2	0	0	0	4	0	4	1	4	4	4	1	4	4	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:198365864G>A	ENST00000233893.5	+	2	513	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	MOB4_ENST00000604458.1_Missense_Mutation_p.E24K|HSPE1_ENST00000409468.1_Missense_Mutation_p.E24K|HSPE1_ENST00000465573.1_Intron|HSPE1_ENST00000409729.1_Intron	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			GAGTGCTGCTGAAACTGTAAC	0.408													7	91					0	0	0	0	A	198365864	G	A	198365864	3	1	484	1	0	0	0	0	1	0	0	0	7482	1291	45	2	76	2	HSPE1	2	198365864	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	18349821	198365864	44833509	29	93320											
STK11IP	114790	broad.mit.edu	37	chr2	220472994	220472994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccagaggcccccaggagtCaccacagaaaatgtcagagg	14	3	12	12	0	2	3	2	0	0	3	2	4	2	4	4	3	1	0	4	3	2	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:220472994C>T	ENST00000456909.1	+	14	1535	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	STK11IP_ENST00000295641.10_Missense_Mutation_p.S493L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	493					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCAGGAGTCACCACAGAAA	0.632													7	17					0	0	0	0	T	220472994	C	T	220472994	3	4	484	1	0	0	0	0	1	0	0	0	15378	838	29	2	1532	2	STK11IP	2	220472994	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	22107130	220472994	22726379	30	93321											
CNTN6	27255	broad.mit.edu	37	chr3	1369145	1369145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcctttattaggagaGaattcaaatagaaaatggga	15	13	8	5	0	1	2	1	0	0	2	2	5	2	4	2	2	0	0	2	2	7	7			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:1369145G>T	ENST00000446702.2	+	10	1715	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I	CNTN6_ENST00000539053.1_Missense_Mutation_p.R291I|CNTN6_ENST00000350110.2_Missense_Mutation_p.R363I			Q9UQ52	CNTN6_HUMAN	contactin 6	363	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TATTAGGAGAGAATTCAAATA	0.318													13	41					0.0135373	0.0137034	1	0	T	1369145	G	T	1369145	3	4	484	1	0	0	0	0	1	0	0	0	3675	942	33	2	1122	2	CNTN6	3	1369145	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08		1369145	196653285	31	93322											
BSN	8927	broad.mit.edu	37	chr3	49695507	49695507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctccgccagcagacgctgCctcgccccatgaagaccctg	7	6	9	19	3	1	3	0	1	1	2	3	3	1	3	6	0	2	2	6	0	1	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:49695507C>G	ENST00000296452.4	+	5	8632	c.8518C>G	c.(8518-8520)Cct>Gct	p.P2840A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2840					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAGACGCTGCCTCGCCCCAT	0.612													5	80					0	0	0	0	G	49695507	C	G	49695507	3	3	484	1	0	0	0	0	1	0	0	0	1538	739	26	4	8536	4	BSN	3	49695507	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	48326362	49695507	148326923	32	93323											
ADAMTS9	56999	broad.mit.edu	37	chr3	64600997	64600997	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagccctcccatcttacCtctgaccagtctccagattt	9	12	4	16	0	3	2	0	1	3	1	5	2	4	2	5	0	3	0	5	0	2	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:64600997C>G	ENST00000498707.1	-	21	3531	c.3189_splice	c.e21+1	p.E1063_splice	ADAMTS9_ENST00000295903.4_Splice_Site_p.E1035_splice	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1063	TSP type-1 5.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCATCTTACCTCTGACCAGT	0.458													40	64					0	0	0	0	G	64600997	C	G	64600997	5	3	484	1	0	0	0	0	0	0	1	0	273	695	24	4	2694	4	ADAMTS9	3	64600997	Splice_Site	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	14905490	64600997	133421433	33	93324											
ALCAM	214	broad.mit.edu	37	chr3	105269038	105269038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttcccctgaagagaatgTtacattaacttgcacagcag	13	11	7	10	0	0	2	0	1	0	1	1	3	1	2	2	0	4	3	2	0	4	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:105269038T>C	ENST00000306107.5	+	12	1942	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A	ALCAM_ENST00000472644.2_Missense_Mutation_p.V481A|ALCAM_ENST00000389927.4_Missense_Mutation_p.V203A|ALCAM_ENST00000486979.2_Missense_Mutation_p.V430A	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	481	Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAGAGAATGTTACATTAACT	0.343													69	296					0	0	0	0	C	105269038	T	C	105269038	3	2	484	1	0	0	0	0	1	0	0	0	487	1725	60	5	1488	5	ALCAM	3	105269038	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	40668041	105269038	92753392	34	93325											
SI	6476	broad.mit.edu	37	chr3	164714392	164714392	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttgcatccagcgggtacaGagatgatattctgagttgtt	10	13	12	6	1	1	3	0	2	1	1	2	4	2	3	1	1	3	5	1	1	2	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:164714392G>C	ENST00000264382.3	-	40	4685	c.4623C>G	c.(4621-4623)ctC>ctG	p.L1541L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1541	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGCGGGTACAGAGATGATATT	0.303										HNSCC(35;0.089)			19	300					0	0	0	0	C	164714392	G	C	164714392	2	2	484	1	0	0	0	0	0	0	0	1	14385	929	33	2		2	SI	3	164714392	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	59445354	164714392	33308038	35	93326											
PIK3CA	5290	broad.mit.edu	37	chr3	178916824	178916824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaatcttcttacattttcGtaagtgttactcaagaagca	13	15	6	7	1	3	2	1	1	2	1	4	2	3	2	0	0	3	3	0	0	6	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:178916824G>A	ENST00000263967.3	+	2	368	c.211G>A	c.(211-213)Gta>Ata	p.V71I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	71	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTACATTTTCGTAAGTGTTAC	0.353		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	161					0	0	0	0	A	178916824	G	A	178916824	3	1	484	1	0	0	0	0	1	0	0	0	11985	1145	40	1	213	1	PIK3CA	3	178916824	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	14202432	178916824	19105606	36	93327											
FBXL5	26234	broad.mit.edu	37	chr4	15627093	15627093	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaatgagtgaccacaataCgcaaaggctggagaagcaca	18	4	10	9	1	0	3	0	2	0	1	0	4	0	3	1	2	2	3	1	2	6	1	rs143532809		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:15627093C>A	ENST00000341285.3	-	9	1756	c.1632G>T	c.(1630-1632)gcG>gcT	p.A544A	FBXL5_ENST00000382358.4_Silent_p.A418A|FBXL5_ENST00000412094.2_Silent_p.A527A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	544					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						GACCACAATACGCAAAGGCTG	0.428													20	29					8.10497e-08	8.62787e-08	1	0	A	15627093	C	A	15627093	2	1	484	1	0	0	0	0	0	0	0	1	5767	523	19	3		3	FBXL5	4	15627093	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		15627093	175527183	37	93328											
ANK2	287	broad.mit.edu	37	chr4	114257044	114257044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagaaacgaatctgccGcatcatcacccgagacttcc	15	6	7	13	3	3	3	2	0	1	3	4	5	4	3	3	0	2	1	3	0	4	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:114257044G>A	ENST00000357077.4	+	30	3475	c.3422G>A	c.(3421-3423)cGc>cAc	p.R1141H	ANK2_ENST00000264366.6_Missense_Mutation_p.R1108H|ANK2_ENST00000509550.1_Missense_Mutation_p.R317H|ANK2_ENST00000506722.1_Missense_Mutation_p.R1132H|ANK2_ENST00000394537.3_Missense_Mutation_p.R1141H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1108					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGAATCTGCCGCATCATCACC	0.463													4	139					0	0	0	0	A	114257044	G	A	114257044	3	1	484	1	0	0	0	0	1	0	0	0	621	1087	38	1	3605	1	ANK2	4	114257044	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	98629951	114257044	76897232	38	93329											
ANK2	287	broad.mit.edu	37	chr4	114279456	114279456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaaggacctccccaccGtgcaaacgggtgatatacct	11	6	10	14	2	0	1	0	1	0	0	1	3	1	3	6	3	3	1	6	3	4	2	rs141013157	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:114279456G>A	ENST00000357077.4	+	38	9735	c.9682G>A	c.(9682-9684)Gtg>Atg	p.V3228M	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3195					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTCCCCACCGTGCAAACGGG	0.488													40	50					0	0	0	0	A	114279456	G	A	114279456	3	1	484	1	0	0	0	0	1	0	0	0	621	1145	40	1	9897	1	ANK2	4	114279456	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	22412	114279456	76874820	39	93330											
KIAA1109	84162	broad.mit.edu	37	chr4	123145812	123145812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggctggaagtcttacaGctaaggtcacagcaccacag	12	7	11	11	0	2	0	1	0	1	0	2	1	2	1	1	3	4	4	1	3	3	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:123145812G>T	ENST00000264501.4	+	23	3146	c.2773G>T	c.(2773-2775)Gct>Tct	p.A925S	KIAA1109_ENST00000455637.1_Missense_Mutation_p.A925S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A925S|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	925					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGTCTTACAGCTAAGGTCAC	0.438													15	52					6.72482e-11	7.44695e-11	1	0	T	123145812	G	T	123145812	3	4	484	1	0	0	0	0	1	0	0	0	8259	971	34	4	2855	4	KIAA1109	4	123145812	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	8866356	123145812	68008464	40	93331											
TLL1	7092	broad.mit.edu	37	chr4	166986935	166986935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtgcctgaagtgatcacatCccagttcaacaatatgagaa	15	9	8	9	0	2	3	2	3	0	1	3	4	3	3	2	0	2	1	2	0	5	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:166986935C>T	ENST00000061240.2	+	16	2755	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	TLL1_ENST00000507499.1_Missense_Mutation_p.S726F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	703	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGATCACATCCCAGTTCAAC	0.398													21	92					0	0	0	0	T	166986935	C	T	166986935	3	4	484	1	0	0	0	0	1	0	0	0	16039	855	30	2	2170	2	TLL1	4	166986935	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	43841123	166986935	24167341	41	93332											
UFSP2	55325	broad.mit.edu	37	chr4	186329493	186329493	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtttgaaccaagagcagaTagtctgcagagatcgataag	15	9	11	6	1	1	4	0	1	1	3	2	6	1	4	1	0	3	3	1	0	4	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:186329493T>C	ENST00000264689.6	-	8	1044	c.928A>G	c.(928-930)Atc>Gtc	p.I310V		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	310						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CAAGAGCAGATAGTCTGCAGA	0.413													73	81					0	0	0	0	C	186329493	T	C	186329493	3	2	484	1	0	0	0	0	1	0	0	0	17034	1406	49	5	501	5	UFSP2	4	186329493	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	19342558	186329493	4824783	42	93333											
ZNF366	167465	broad.mit.edu	37	chr5	71743155	71743155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcagggtgaatttgcttggGcaatagaggcacttgaaggg	10	11	15	5	0	1	3	1	2	0	1	1	3	1	3	0	4	1	3	0	4	4	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:71743155G>A	ENST00000318442.5	-	4	2104	c.1614C>T	c.(1612-1614)tgC>tgT	p.C538C		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ATTTGCTTGGGCAATAGAGGC	0.512													4	128					0	0	0	0	A	71743155	G	A	71743155	2	1	484	1	0	0	0	0	0	0	0	1	17965	1195	42	4		4	ZNF366	5	71743155	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08		71743155	109172105	43	93334											
ZFYVE16	9765	broad.mit.edu	37	chr5	79773141	79773141	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatggtgggacctccaactCtagtttaccattagaaatag	12	11	8	10	0	1	1	0	0	1	1	2	2	2	2	4	2	2	1	4	2	6	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:79773141C>G	ENST00000338008.5	+	18	4745	c.4565C>G	c.(4564-4566)tCt>tGt	p.S1522C	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S1522C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S1522C	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1522					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACCTCCAACTCTAGTTTACCA	0.353													6	71					0	0	0	0	G	79773141	C	G	79773141	3	3	484	1	0	0	0	0	1	0	0	0	17759	913	32	2	4631	2	ZFYVE16	5	79773141	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	8029986	79773141	101142119	44	93335											
SLCO6A1	133482	broad.mit.edu	37	chr5	101794107	101794107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagcagcacataaatcCttgatattagttccaagttt	15	12	6	8	0	0	2	0	1	0	1	2	2	2	2	2	0	2	4	2	0	6	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:101794107C>A	ENST00000506729.1	-	6	1281	c.1110G>T	c.(1108-1110)aaG>aaT	p.K370N	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K370N|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K308N|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	370						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACATAAATCCTTGATATTAG	0.303													83	91					9.10895e-26	1.05843e-25	1	0	A	101794107	C	A	101794107	3	1	484	1	0	0	0	0	1	0	0	0	14820	680	24	4	1081	4	SLCO6A1	5	101794107	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	22020966	101794107	79121153	45	93336											
BTN3A1	11119	broad.mit.edu	37	chr6	26409904	26409904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttcagaaagaaaaagagaGagcaagagttgagagaaatg	21	5	13	2	0	1	7	1	1	0	6	1	9	1	7	0	0	1	3	0	0	5	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:26409904G>C	ENST00000289361.6	+	5	1227	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	BTN3A1_ENST00000425234.2_Missense_Mutation_p.E287Q|BTN3A1_ENST00000414912.2_Missense_Mutation_p.E235Q|BTN3A1_ENST00000476549.2_Missense_Mutation_p.E287Q	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	287					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAAAAAGAGAGAGCAAGAGTT	0.507													16	161					0	0	0	0	C	26409904	G	C	26409904	3	2	484	1	0	0	0	0	1	0	0	0	1571	943	33	2	873	2	BTN3A1	6	26409904	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08		26409904	144705163	46	93337											
TAP1	6890	broad.mit.edu	37	chr6	32816571	32816571	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtactcaaatattttctctGaggagcccacagccttctgt	9	13	8	11	0	3	1	1	1	2	0	4	2	3	2	2	2	3	1	2	2	3	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:32816571G>C	ENST00000354258.4	-	7	1765	c.1604C>G	c.(1603-1605)tCa>tGa	p.S535*	TAP1_ENST00000425148.2_Nonsense_Mutation_p.S274*|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	535	Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TATTTTCTCTGAGGAGCCCAC	0.522													6	94					0	0	0	0	C	32816571	G	C	32816571	4	2	484	1	0	0	0	0	0	1	0	0	15641	1294	45	2	842	2	TAP1	6	32816571	Nonsense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	6406667	32816571	138298496	47	93338											
SCUBE3	222663	broad.mit.edu	37	chr6	35211469	35211469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagggcagctctcctgcGacctttgccctgggagtgat	7	9	14	11	1	1	2	0	1	1	1	2	5	1	3	3	2	3	2	3	2	1	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:35211469G>A	ENST00000274938.7	+	16	2008	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	SCUBE3_ENST00000394681.1_Missense_Mutation_p.D686N	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	670					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCTCTCCTGCGACCTTTGCCC	0.622													4	72					0	0	0	0	A	35211469	G	A	35211469	3	1	484	1	0	0	0	0	1	0	0	0	14033	1058	37	1	2070	1	SCUBE3	6	35211469	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	2394898	35211469	135903598	48	93339											
KLHL32	114792	broad.mit.edu	37	chr6	97580562	97580562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagttgctgtccataatgGgagaatatatttagttggtg	10	15	13	3	0	0	1	0	0	0	1	1	3	1	2	1	3	1	3	1	3	5	7			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:97580562G>T	ENST00000369261.4	+	10	2003	c.1640G>T	c.(1639-1641)gGg>gTg	p.G547V	KLHL32_ENST00000544166.1_Missense_Mutation_p.G103V|KLHL32_ENST00000539200.1_Missense_Mutation_p.G478V|KLHL32_ENST00000536676.1_Missense_Mutation_p.G511V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	547										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GTCCATAATGGGAGAATATAT	0.333													7	95					0.000274275	0.000281089	1	0	T	97580562	G	T	97580562	3	4	484	1	0	0	0	0	1	0	0	0	8438	1232	43	4	1674	4	KLHL32	6	97580562	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	62369093	97580562	73534505	49	93340											
SYNE1	23345	broad.mit.edu	37	chr6	152527354	152527354	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagccgcatgctggcTgatttccatttctcttggat	5	16	8	12	1	2	1	0	1	2	0	5	2	4	2	3	2	2	3	3	2	0	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:152527354T>C	ENST00000367255.5	-	126	23569	c.22968A>G	c.(22966-22968)tcA>tcG	p.S7656S	SYNE1_ENST00000265368.4_Silent_p.S7656S|SYNE1_ENST00000423061.1_Silent_p.S7585S|SYNE1_ENST00000448038.1_Silent_p.S7585S|SYNE1_ENST00000341594.5_Silent_p.S7268S|SYNE1_ENST00000356820.4_Silent_p.S2180S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7656					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGCTGGCTGATTTCCATT	0.483										HNSCC(10;0.0054)			24	57					0	0	0	0	C	152527354	T	C	152527354	2	2	484	1	0	0	0	0	0	0	0	1	15536	1567	55	5		5	SYNE1	6	152527354	Silent	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	54946792	152527354	18587713	50	93341											
YKT6	10652	broad.mit.edu	37	chr7	44246048	44246048	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggtcattgctgacaatgaAtacccatcccgggtggcctt	8	11	11	11	1	1	2	1	2	0	0	2	2	2	2	3	3	2	1	3	3	3	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:44246048A>G	ENST00000223369.2	+	3	339	c.252A>G	c.(250-252)gaA>gaG	p.E84E	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Silent_p.E84E	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	84	Longin.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						CTGACAATGAATACCCATCCC	0.483													31	73					0	0	0	0	G	44246048	A	G	44246048	2	3	484	1	0	0	0	0	0	0	0	1	17581	98	4	5		5	YKT6	7	44246048	Silent	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08		44246048	114892615	51	93342											
ZNF713	349075	broad.mit.edu	37	chr7	56007563	56007563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaggagagaaaccctataAatgtaatgaatgcgggaaag	18	7	11	5	1	0	2	0	1	0	1	0	5	0	4	1	2	3	1	1	2	8	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:56007563A>G	ENST00000429591.2	+	4	1195	c.1157A>G	c.(1156-1158)aAa>aGa	p.K386R	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAACCCTATAAATGTAATGAA	0.408													37	84					0	0	0	0	G	56007563	A	G	56007563	3	3	484	1	0	0	0	0	1	0	0	0	18212	14	1	5	1171	5	ZNF713	7	56007563	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08	11761515	56007563	103131100	52	93343											
ZNF800	168850	broad.mit.edu	37	chr7	127014013	127014013	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagccgacggactagttgaTttagggctttcagagtcttg	8	12	13	8	2	2	2	1	1	1	1	2	4	2	3	1	2	1	3	1	2	2	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:127014013T>C	ENST00000393313.1	-	5	1968	c.1377A>G	c.(1375-1377)aaA>aaG	p.K459K	ZNF800_ENST00000265827.3_Silent_p.K459K|ZNF800_ENST00000393312.1_Silent_p.K459K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						GACTAGTTGATTTAGGGCTTT	0.383													32	121					0	0	0	0	C	127014013	T	C	127014013	2	2	484	1	0	0	0	0	0	0	0	1	18262	1490	52	5		5	ZNF800	7	127014013	Silent	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	71006450	127014013	32124650	53	93344											
WEE2	494551	broad.mit.edu	37	chr7	141427199	141427199	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgggaaaaacagaagagctCcaacagcagctgaatttgga	16	6	11	8	0	0	3	0	1	0	2	1	5	1	5	1	2	5	3	1	2	5	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:141427199C>G	ENST00000397541.2	+	10	1894	c.1488C>G	c.(1486-1488)ctC>ctG	p.L496L	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	496					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CAGAAGAGCTCCAACAGCAGC	0.468													79	157					0	0	0	0	G	141427199	C	G	141427199	2	3	484	1	0	0	0	0	0	0	0	1	17441	842	30	2		2	WEE2	7	141427199	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	14413186	141427199	17711464	54	93345											
CLCN1	1180	broad.mit.edu	37	chr7	143016950	143016950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacagcaaggatgaggatCactattctaaatgtcaaggt	14	10	11	6	0	3	1	2	1	1	0	3	4	3	4	0	4	1	1	0	4	5	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:143016950C>T	ENST00000343257.2	+	2	370	c.283C>T	c.(283-285)Cac>Tac	p.H95Y		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	95					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGATGAGGATCACTATTCTAA	0.463													46	117					0	0	0	0	T	143016950	C	T	143016950	3	4	484	1	0	0	0	0	1	0	0	0	3492	826	29	2	289	2	CLCN1	7	143016950	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	1589751	143016950	16121713	55	93346											
EZH2	2146	broad.mit.edu	37	chr7	148524338	148524338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatcagaaggaaatttccGaggtgggcggctttctttat	9	15	11	6	2	2	1	1	0	1	1	3	3	3	2	1	4	0	1	1	4	4	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:148524338G>A	ENST00000320356.2	-	7	767	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	EZH2_ENST00000476773.1_Missense_Mutation_p.R207W|EZH2_ENST00000478654.1_Missense_Mutation_p.R207W|EZH2_ENST00000483967.1_Missense_Mutation_p.R207W|EZH2_ENST00000350995.2_Missense_Mutation_p.R177W|EZH2_ENST00000460911.1_Missense_Mutation_p.R216W|EZH2_ENST00000541220.1_Missense_Mutation_p.R207W|EZH2_ENST00000536783.1_Missense_Mutation_p.R107W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	216	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GGAAATTTCCGAGGTGGGCGG	0.338			Mis		DLBCL								7	202					0	0	0	0	A	148524338	G	A	148524338	3	1	484	1	0	0	0	0	1	0	0	0	5372	1057	37	1	1665	1	EZH2	7	148524338	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	5507388	148524338	10614325	56	93347											
TMEM176A	55365	broad.mit.edu	37	chr7	150499411	150499411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatctggacaggggctGtggtgagtagagcaggacag	9	7	17	8	0	1	2	0	1	1	1	1	4	1	4	1	5	2	3	1	5	1	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:150499411G>A	ENST00000484928.1	+	3	864	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	TMEM176A_ENST00000461345.1_Missense_Mutation_p.V36M|TMEM176A_ENST00000004103.3_Missense_Mutation_p.V95M			Q96HP8	T176A_HUMAN	transmembrane protein 176A	95						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACAGGGGCTGTGGTGAGTAG	0.582													9	39					0	0	0	0	A	150499411	G	A	150499411	3	1	484	1	0	0	0	0	1	0	0	0	16186	1377	48	4	289	4	TMEM176A	7	150499411	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	1975073	150499411	8639252	57	93348											
HTR5A	3361	broad.mit.edu	37	chr7	154863064	154863064	+	Missense_Mutation	SNP	G	G	A																															ccacatggaatacacgctccGcacccgcaagtgcgtctcca																										TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:154863064G>A	ENST00000287907.2	+	1	1031	c.455G>A	c.(454-456)cGc>cAc	p.R152H	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	152						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TACACGCTCCGCACCCGCAAG	0.627													18	34					0	0	0	0	A	154863064	G	A	154863064	3	1	484	1	0	0	0	0	1	0	0	0	7503	1087	38	1	457	1	HTR5A	7	154863064	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	4363653	154863064	4275599	58	93349	1124	2									
HTR5A	3361	broad.mit.edu	37	chr7	154863065	154863065	+	Silent	SNP	C	C	A																															cacatggaatacacgctccgCacccgcaagtgcgtctccaa																										TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:154863065C>A	ENST00000287907.2	+	1	1032	c.456C>A	c.(454-456)cgC>cgA	p.R152R	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	152						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACACGCTCCGCACCCGCAAGT	0.622													18	34					2.4624e-09	2.63828e-09	1	0	A	154863065	C	A	154863065	2	1	484	1	0	0	0	0	0	0	0	1	7503	697	25	4		4	HTR5A	7	154863065	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	1	154863065	4275598	59	93350	1124	2									
TG	7038	broad.mit.edu	37	chr8	133899690	133899690	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttgtactagtgagggAcatttcctgcctgtccagtg	6	13	11	11	0	0	1	0	1	0	0	2	2	2	2	4	1	3	2	4	1	2	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:133899690A>G	ENST00000220616.4	+	9	2113	c.2073A>G	c.(2071-2073)ggA>ggG	p.G691G	TG_ENST00000377869.1_Silent_p.G691G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	691	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTAGTGAGGGACATTTCCTGC	0.547													4	130					0	0	0	0	G	133899690	A	G	133899690	2	3	484	1	0	0	0	0	0	0	0	1	15907	262	10	5		5	TG	8	133899690	Silent	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08		133899690	12464332	60	93351											
CYP11B2	1585	broad.mit.edu	37	chr8	143999025	143999025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggctttacctgaaaaTgggccccagctcctggaagg	9	7	15	10	0	0	1	0	1	0	0	1	3	1	3	4	5	2	2	4	5	4	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:143999025T>C	ENST00000323110.2	-	1	234	c.232A>G	c.(232-234)Att>Gtt	p.I78V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	78					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TACCTGAAAATGGGCCCCAGC	0.632									Familial Hyperaldosteronism type I				43	97					0	0	0	0	C	143999025	T	C	143999025	3	2	484	1	0	0	0	0	1	0	0	0	4178	1464	51	5	1315	5	CYP11B2	8	143999025	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	10099335	143999025	2364997	61	93352											
PLEC	5339	broad.mit.edu	37	chr8	145001196	145001196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accttgggcttcttggccggGgaggccaccggctcaagctg	5	8	15	13	2	2	0	1	0	1	0	2	1	2	1	4	6	1	3	4	6	1	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:145001196G>A	ENST00000322810.4	-	29	4474	c.4305C>T	c.(4303-4305)tcC>tcT	p.S1435S	PLEC_ENST00000345136.3_Silent_p.S1298S|PLEC_ENST00000527096.1_Silent_p.S1321S|PLEC_ENST00000436759.2_Silent_p.S1325S|PLEC_ENST00000398774.2_Silent_p.S1266S|PLEC_ENST00000354958.2_Silent_p.S1276S|PLEC_ENST00000356346.3_Silent_p.S1284S|PLEC_ENST00000354589.3_Silent_p.S1298S|PLEC_ENST00000357649.2_Silent_p.S1302S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1435	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTTGGCCGGGGAGGCCACCG	0.642													28	46					0	0	0	0	A	145001196	G	A	145001196	2	1	484	1	0	0	0	0	0	0	0	1	12124	1219	43	4		4	PLEC	8	145001196	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	1002171	145001196	1362826	62	93353											
LRRC14	9684	broad.mit.edu	37	chr8	145746372	145746372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacctacgcttcctggcacGgagcccacatgctgcccacc	7	6	10	18	2	0	0	0	0	0	0	1	2	1	2	5	3	4	3	5	3	1	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:145746372G>A	ENST00000292524.1	+	4	1138	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	LRRC14_ENST00000529022.1_Missense_Mutation_p.R331Q	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	331										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCTGGCACGGAGCCCACAT	0.622													88	227					0	0	0	0	A	145746372	G	A	145746372	3	1	484	1	0	0	0	0	1	0	0	0	9032	1116	39	1	1002	1	LRRC14	8	145746372	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	745176	145746372	617650	63	93354											
GRIN3A	116443	broad.mit.edu	37	chr9	104499572	104499572	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctctcacctgactctcCcgtggaaactcgtggcgcac	6	9	9	17	3	2	1	1	1	2	0	6	2	3	2	3	2	1	2	3	2	1	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:104499572C>T	ENST00000361820.3	-	1	1290	c.690G>A	c.(688-690)cgG>cgA	p.R230R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	230					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCTGACTCTCCCGTGGAAACT	0.602													26	31					0	0	0	0	T	104499572	C	T	104499572	2	4	484	1	0	0	0	0	0	0	0	1	6833	610	22	4		4	GRIN3A	9	104499572	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		104499572	36713859	64	93355											
SETX	23064	broad.mit.edu	37	chr9	135205857	135205857	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgttaggacaataatcTgggcaaatggctgttctcca	12	12	9	8	0	2	0	0	0	2	0	3	1	2	1	1	3	1	4	1	3	5	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:135205857T>C	ENST00000372169.2	-	10	1310	c.1128A>G	c.(1126-1128)ccA>ccG	p.P376P	SETX_ENST00000393220.1_Silent_p.P376P|SETX_ENST00000224140.5_Silent_p.P376P			Q7Z333	SETX_HUMAN	senataxin	376					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GACAATAATCTGGGCAAATGG	0.383													9	139					0	0	0	0	C	135205857	T	C	135205857	2	2	484	1	0	0	0	0	0	0	0	1	14228	1567	55	5		5	SETX	9	135205857	Silent	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	30706285	135205857	6007574	65	93356											
SARDH	1757	broad.mit.edu	37	chr9	136535737	136535737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacaccaggcgccggcGgaggcctgcggcccgctgct	6	3	16	16	5	0	0	0	0	0	0	0	2	0	1	4	5	3	3	4	5	1	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:136535737G>A	ENST00000371872.4	-	19	2721	c.2464C>T	c.(2464-2466)Cgc>Tgc	p.R822C	SARDH_ENST00000439388.1_Missense_Mutation_p.R822C|SARDH_ENST00000371868.1_Missense_Mutation_p.R250C|SARDH_ENST00000422262.2_Missense_Mutation_p.R654C	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	822					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGGCGCCGGCGGAGGCCTGCG	0.692													3	6					0	0	0	0	A	136535737	G	A	136535737	3	1	484	1	0	0	0	0	1	0	0	0	13927	1116	39	1	304	1	SARDH	9	136535737	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	1329880	136535737	4677694	66	93357											
ABCA2	20	broad.mit.edu	37	chr9	139903015	139903015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggactgcagtgcggatggCggctccgtctcctgctgctc	3	9	16	13	3	1	0	0	0	1	0	4	2	2	2	2	5	4	4	2	5	0	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:139903015C>T	ENST00000265662.5	-	48	7275	c.7128G>A	c.(7126-7128)ccG>ccA	p.P2376P	ABCA2_ENST00000341511.6_Silent_p.P2376P|ABCA2_ENST00000371605.3_Silent_p.P2375P			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2375					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCGGATGGCGGCTCCGTCT	0.682													5	20					0	0	0	0	T	139903015	C	T	139903015	2	4	484	1	0	0	0	0	0	0	0	1	32	755	27	1		1	ABCA2	9	139903015	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	3367278	139903015	1310416	67	93358											
MLLT10	8028	broad.mit.edu	37	chr10	21875274	21875274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaagaacagataatGggggtaagtgcagagatttc	16	10	11	4	0	0	3	0	0	0	3	1	4	0	3	0	2	2	2	0	2	6	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:21875274G>T	ENST00000377072.3	+	4	640	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	MLLT10_ENST00000377059.3_Missense_Mutation_p.G98W|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000307729.7_Missense_Mutation_p.G98W|MLLT10_ENST00000446906.2_Missense_Mutation_p.G98W	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	98	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AACAGATAATGGGGGTAAGTG	0.269			T	"MLL, PICALM, CDK6"	AL								9	40					1.08611e-07	1.14877e-07	1	0	T	21875274	G	T	21875274	3	4	484	1	0	0	0	0	1	0	0	0	9695	1348	47	4	302	4	MLLT10	10	21875274	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08		21875274	113659473	68	93359											
LRRTM3	347731	broad.mit.edu	37	chr10	68687519	68687519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcccgaatctgcagcGcctcaacctggattccaaca	9	9	9	14	2	2	0	1	0	1	0	4	2	4	1	4	1	4	1	4	1	3	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:68687519G>A	ENST00000361320.4	+	2	1423	c.845G>A	c.(844-846)cGc>cAc	p.R282H	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	282						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AATCTGCAGCGCCTCAACCTG	0.458													68	99					0	0	0	0	A	68687519	G	A	68687519	3	1	484	1	0	0	0	0	1	0	0	0	9105	1087	38	1	851	1	LRRTM3	10	68687519	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	46812245	68687519	66847228	69	93360											
NRG3	10718	broad.mit.edu	37	chr10	84738818	84738818	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggtggaattgtgggaccaGcatatcagcaactcgaagaa	14	8	12	7	1	1	1	1	0	0	1	2	4	1	3	1	3	3	2	1	3	6	3	rs144926296	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:84738818G>C	ENST00000372142.2	+	9	1136	c.862G>C	c.(862-864)Gca>Cca	p.A288P	NRG3_ENST00000404547.1_Missense_Mutation_p.A509P|NRG3_ENST00000404576.2_Missense_Mutation_p.A313P|NRG3_ENST00000372141.2_Missense_Mutation_p.A509P|NRG3_ENST00000556918.1_Missense_Mutation_p.A339P|NRG3_ENST00000545131.1_Missense_Mutation_p.A159P|NRG3_ENST00000537893.1_Missense_Mutation_p.A159P	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	509	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGTGGGACCAGCATATCAGCA	0.517													19	34					0	0	0	0	C	84738818	G	C	84738818	3	2	484	1	0	0	0	0	1	0	0	0	10720	971	34	4	1723	4	NRG3	10	84738818	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	16051299	84738818	50795929	70	93361											
IDE	3416	broad.mit.edu	37	chr10	94250312	94250312	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccataccactcttctgtgcGatcagtttttccttcaaaag	9	15	5	12	1	4	0	2	0	2	0	6	1	6	0	3	0	2	1	3	0	3	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:94250312G>C	ENST00000371581.5	-	0	130				IDE_ENST00000265986.6_Missense_Mutation_p.R491G|IDE_ENST00000496903.1_5'UTR	NM_001165946.1	NP_001159418.1	P14735	IDE_HUMAN	insulin-degrading enzyme						beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCTGTGCGATCAGTTTTT	0.358													6	235					0	0	0	0	C	94250312	G	C	94250312	1	2	484	1	0	0	0	0	0	0	0	0	7546	1058	37	3		3	IDE	10	94250312	Translation_Start_Site	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	9511494	94250312	41284435	71	93362											
PPRC1	23082	broad.mit.edu	37	chr10	103897697	103897697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaggacctggaaatggagGagctaatgctgcaggatgag	14	6	15	6	0	0	1	0	1	0	0	0	6	0	6	1	5	3	3	1	5	3	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:103897697G>A	ENST00000278070.2	+	2	283	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PPRC1_ENST00000413464.2_Missense_Mutation_p.E82K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGAAATGGAGGAGCTAATGCT	0.562													28	31					0	0	0	0	A	103897697	G	A	103897697	3	1	484	1	0	0	0	0	1	0	0	0	12486	1175	41	2	250	2	PPRC1	10	103897697	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	9647385	103897697	31637050	72	93363											
RTN3	10313	broad.mit.edu	37	chr11	63520082	63520082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgaaactcattattcgtCtctttctggtagaagatctg	9	15	7	10	1	4	3	1	1	3	2	6	3	4	3	1	1	1	1	1	1	4	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:63520082C>G	ENST00000377819.5	+	5	2996	c.2842C>G	c.(2842-2844)Ctc>Gtc	p.L948V	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Missense_Mutation_p.L152V|RTN3_ENST00000356000.3_Missense_Mutation_p.L171V|RTN3_ENST00000537981.1_Missense_Mutation_p.L152V|RTN3_ENST00000540798.1_Missense_Mutation_p.L836V|RTN3_ENST00000339997.4_Missense_Mutation_p.L929V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	948	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTATTCGTCTCTTTCTGGT	0.438													86	175					0	0	0	0	G	63520082	C	G	63520082	3	3	484	1	0	0	0	0	1	0	0	0	13812	913	32	2	2860	2	RTN3	11	63520082	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		63520082	71486434	73	93364											
TM7SF2	7108	broad.mit.edu	37	chr11	64881045	64881045	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatatttctgtgaactGcgacccggcctcatcggctg	8	12	9	12	3	3	1	2	1	1	0	4	2	3	1	2	2	2	1	2	2	3	3	rs144634488	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:64881045G>C	ENST00000279263.7	+	5	744	c.582G>C	c.(580-582)ctG>ctC	p.L194L	TM7SF2_ENST00000345348.5_Silent_p.L194L|TM7SF2_ENST00000531029.1_Intron|TM7SF2_ENST00000540748.1_Silent_p.L78L	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	194					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGTGAACTGCGACCCGGCC	0.557													93	220					0	0	0	0	C	64881045	G	C	64881045	2	2	484	1	0	0	0	0	0	0	0	1	16068	1306	46	4		4	TM7SF2	11	64881045	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	1360963	64881045	70125471	74	93365											
PRCP	5547	broad.mit.edu	37	chr11	82571062	82571062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccccttcattaccagtgTagaaaagtattgatccacca	12	12	6	11	0	1	2	1	1	0	1	3	2	3	2	5	0	1	2	5	0	5	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:82571062T>C	ENST00000313010.3	-	2	460	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	PRCP_ENST00000393399.2_Missense_Mutation_p.Y110C|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	89					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATTACCAGTGTAGAAAAGTAT	0.338													12	109					0	0	0	0	C	82571062	T	C	82571062	3	2	484	1	0	0	0	0	1	0	0	0	12529	1638	57	5	1256	5	PRCP	11	82571062	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	17690017	82571062	52435454	75	93366											
LRP1	4035	broad.mit.edu	37	chr12	57567641	57567641	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggacgaggagaactgcgagtCcctggcctgcaggccaccct	8	5	14	14	2	0	1	0	0	0	1	1	5	1	2	4	4	3	1	4	4	1	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:57567641C>G	ENST00000243077.3	+	22	3891	c.3425C>G	c.(3424-3426)tCc>tGc	p.S1142C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1142	LDL-receptor class A 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACTGCGAGTCCCTGGCCTGC	0.602													27	104					0	0	0	0	G	57567641	C	G	57567641	3	3	484	1	0	0	0	0	1	0	0	0	9015	855	30	2	3511	2	LRP1	12	57567641	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		57567641	76284254	76	93367											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452833	100452833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctgattacaagtctgcGgctctttttgtgactctgca	8	15	8	10	1	3	2	0	2	3	0	3	2	3	2	1	1	4	2	1	1	3	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:100452833G>A	ENST00000279907.7	-	14	2434	c.2222C>T	c.(2221-2223)cCg>cTg	p.P741L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.P391L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	741								p.P741L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACAAGTCTGCGGCTCTTTTTG	0.403													43	133					0	0	0	0	A	100452833	G	A	100452833	3	1	484	1	0	0	0	0	1	0	0	0	17065	1116	39	1	2204	1	UHRF1BP1L	12	100452833	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	42885192	100452833	33399062	77	93368											
APPL2	55198	broad.mit.edu	37	chr12	105593155	105593155	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggtggcgttctcactttcTaagattaaggtaaccagcct	10	12	9	10	2	2	1	1	0	2	1	3	1	2	1	2	3	2	2	2	3	3	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:105593155T>G	ENST00000258530.3	-	10	1084	c.859A>C	c.(859-861)Aga>Cga	p.R287R	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Silent_p.R244R|APPL2_ENST00000551662.1_Silent_p.R293R	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	287	PH.|Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTCACTTTCTAAGATTAAGG	0.453													25	52					0	0	0	0	G	105593155	T	G	105593155	2	3	484	1	0	0	0	0	0	0	0	1	820	1530	53	5		5	APPL2	12	105593155	Silent	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	5140322	105593155	28258740	78	93369											
OAS1	4938	broad.mit.edu	37	chr12	113346584	113346584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgagttcgctccagctcGgggagggggtggagttcgat	6	10	17	8	3	0	1	0	1	0	0	4	4	1	3	1	5	2	4	1	5	1	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:113346584G>A	ENST00000452357.2	+	2	614	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	OAS1_ENST00000553185.1_Missense_Mutation_p.G142R|OAS1_ENST00000551241.1_Missense_Mutation_p.G142R|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.G142R|OAS1_ENST00000202917.5_Missense_Mutation_p.G142R	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	142	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTCCAGCTCGGGGAGGGGGT	0.572													24	97					0	0	0	0	A	113346584	G	A	113346584	3	1	484	1	0	0	0	0	1	0	0	0	10870	1116	39	1	430	1	OAS1	12	113346584	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	7753429	113346584	20505311	79	93370											
SUDS3	64426	broad.mit.edu	37	chr12	118838508	118838508	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagaaagttgcggaggCgaccaaatgatcccgtcccc	11	6	11	13	3	0	3	0	2	0	1	2	5	2	4	5	2	1	1	5	2	2	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:118838508C>T	ENST00000543473.1	+	7	874	c.562C>T	c.(562-564)Cga>Tga	p.R188*	SUDS3_ENST00000397564.2_Nonsense_Mutation_p.R189*	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	188	Sin3 interaction domain (SID) (By similarity).				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTGCGGAGGCGACCAAATGA	0.458													32	100					0	0	0	0	T	118838508	C	T	118838508	4	4	484	1	0	0	0	0	0	1	0	0	15457	760	27	1	588	1	SUDS3	12	118838508	Nonsense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	5491924	118838508	15013387	80	93371											
BRCA2	675	broad.mit.edu	37	chr13	32930698	32930698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctgcctcgaatctctctGaaagcagcagtaggaggcca	11	8	10	12	1	3	1	0	1	3	0	5	3	3	2	2	2	3	3	2	2	3	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:32930698G>A	ENST00000544455.1	+	15	7796	c.7569G>A	c.(7567-7569)ctG>ctA	p.L2523L	BRCA2_ENST00000380152.3_Silent_p.L2523L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2523	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAATCTCTCTGAAAGCAGCAG	0.428			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	121					0	0	0	0	A	32930698	G	A	32930698	2	1	484	1	0	0	0	0	0	0	0	1	1507	1277	45	2		2	BRCA2	13	32930698	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08		32930698	82239180	81	93372											
RB1	5925	broad.mit.edu	37	chr13	48941665	48941681	+	Frame_Shift_Del	DEL	TCTTAAAAATAAAGATC	TCTTAAAAATAAAGATC	-																															aaacgatacgaagaaatttaTcttaaaaataaagatctaga																										TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:48941665_48941681delTCTTAAAAATAAAGATC	ENST00000267163.4	+	10	1113_1129	c.975_991delTCTTAAAAATAAAGATC	c.(973-993)tatafs	p.YLKNKDL325fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	325					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.?(7)|p.Y325*(2)|p.N328H(1)		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)	AAGAAATTTATCTTAAAAATAAAGATCTAGATGCAAG	0.304		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)			36	106	---	---	---	---					-	48941681	TCTTAAAAATAAAGATC	-	48941665	7	5	484	1	0	1	0	1	0	0	0	0	13180	1442	50	0	1013	0	RB1	13	48941665	Frame_Shift_Del	DEL	TCTTAAAAATAAAGATC	TCGA-T2-A6WZ-01A-21D-A34J-08	16010967	48941665	66228213	82	93373											
UBAC2	337867	broad.mit.edu	37	chr13	100037518	100037518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgggattttccagaggtGatgctttggaagccctgaga	10	11	14	6	0	0	4	0	2	0	3	1	7	1	6	2	3	2	1	2	3	1	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:100037518G>A	ENST00000376440.2	+	7	1362	c.859G>A	c.(859-861)Gat>Aat	p.D287N	UBAC2_ENST00000403766.3_Missense_Mutation_p.D322N|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	322						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCCAGAGGTGATGCTTTGGA	0.572													9	81					0	0	0	0	A	100037518	G	A	100037518	3	1	484	1	0	0	0	0	1	0	0	0	16931	1290	45	2	1158	2	UBAC2	13	100037518	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	51095853	100037518	15132360	83	93374											
NALCN	259232	broad.mit.edu	37	chr13	102029346	102029346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatcataatcagtggcCgtggaatccgcaacatgccc	10	8	10	13	3	2	0	2	0	0	0	4	2	3	2	3	3	2	1	3	3	3	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:102029346C>T	ENST00000251127.6	-	5	518	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	146						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGTGGCCGTGGAATCCG	0.398													6	95					0	0	0	0	T	102029346	C	T	102029346	3	4	484	1	0	0	0	0	1	0	0	0	10218	652	23	1	4939	1	NALCN	13	102029346	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	1991828	102029346	13140532	84	93375											
C14orf93	60686	broad.mit.edu	37	chr14	23457183	23457183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggttcagggagttgcGgtactcacgcctcttagtaa	10	10	13	8	2	3	0	2	0	1	0	3	1	3	1	1	4	2	4	1	4	4	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:23457183G>A	ENST00000299088.6	-	6	1555	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R376C|C14orf93_ENST00000397377.1_Missense_Mutation_p.R196C|C14orf93_ENST00000397379.3_Missense_Mutation_p.R376C|C14orf93_ENST00000397382.4_Missense_Mutation_p.R376C|C14orf93_ENST00000341470.4_Missense_Mutation_p.R376C|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	376						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		AGGGAGTTGCGGTACTCACGC	0.532													94	129					0	0	0	0	A	23457183	G	A	23457183	3	1	484	1	0	0	0	0	1	0	0	0	1794	1116	39	1	498	1	C14orf93	14	23457183	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08		23457183	83892357	85	93376											
ACIN1	22985	broad.mit.edu	37	chr14	23535193	23535193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacaacggagatcttccTcttgaatgatttgggcagcg	11	10	11	9	2	2	4	0	2	2	2	3	5	3	4	1	2	2	1	1	2	2	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:23535193T>C	ENST00000262710.1	-	10	2791	c.2464A>G	c.(2464-2466)Agg>Ggg	p.R822G	ACIN1_ENST00000557515.1_Missense_Mutation_p.R64G|ACIN1_ENST00000605057.1_Missense_Mutation_p.R764G|ACIN1_ENST00000357481.2_Missense_Mutation_p.R64G|ACIN1_ENST00000338631.6_Missense_Mutation_p.R95G|ACIN1_ENST00000555053.1_Missense_Mutation_p.R822G|ACIN1_ENST00000457657.1_Missense_Mutation_p.R782G|ACIN1_ENST00000397341.3_Missense_Mutation_p.R64G	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	822					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAGATCTTCCTCTTGAATGAT	0.438													44	51					0	0	0	0	C	23535193	T	C	23535193	3	2	484	1	0	0	0	0	1	0	0	0	142	1550	54	5	1601	5	ACIN1	14	23535193	Missense_Mutation	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	78010	23535193	83814347	86	93377											
FAM161B	145483	broad.mit.edu	37	chr14	74411446	74411446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgtcatgcggaatggccGagggacagtaatggatgatg	11	7	16	7	3	1	1	1	1	0	0	1	5	1	4	1	4	2	1	1	4	2	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:74411446G>A	ENST00000286544.3	-	3	904	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	FAM161B_ENST00000534936.1_Missense_Mutation_p.R173W	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CGGAATGGCCGAGGGACAGTA	0.667													23	36					0	0	0	0	A	74411446	G	A	74411446	3	1	484	1	0	0	0	0	1	0	0	0	5514	1057	37	1	1454	1	FAM161B	14	74411446	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	50876253	74411446	32938094	87	93378											
IVD	3712	broad.mit.edu	37	chr15	40702833	40702833	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaccactcacagttcagtAtggcggctccggcctgggct	7	8	11	15	2	2	0	2	0	0	0	3	0	3	0	3	4	0	4	3	4	1	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr15:40702833A>G	ENST00000249760.2	+	4	636	c.293A>G	c.(292-294)tAt>tGt	p.Y98C	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.Y101C|IVD_ENST00000479013.2_Missense_Mutation_p.Y71C	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	98					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		ACAGTTCAGTATGGCGGCTCC	0.547													9	83					0	0	0	0	G	40702833	A	G	40702833	3	3	484	1	0	0	0	0	1	0	0	0	7981	449	16	5	316	5	IVD	15	40702833	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08		40702833	61828559	88	93379											
MYO5A	4644	broad.mit.edu	37	chr15	52620117	52620117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactttctgatcatcattcaGgtagtcagcatgtcgaacac	11	13	7	10	1	5	1	4	1	1	0	6	2	5	1	0	1	3	2	0	1	3	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr15:52620117G>A	ENST00000399231.3	-	35	4810	c.4567C>T	c.(4567-4569)Ctg>Ttg	p.L1523L	MYO5A_ENST00000356338.6_Silent_p.L1496L|MYO5A_ENST00000399233.2_Silent_p.L1520L|MYO5A_ENST00000358212.6_Silent_p.L1548L|MYO5A_ENST00000553916.1_Silent_p.L1521L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1523					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCATCATTCAGGTAGTCAGCA	0.378													30	219					0	0	0	0	A	52620117	G	A	52620117	2	1	484	1	0	0	0	0	0	0	0	1	10148	991	35	4		4	MYO5A	15	52620117	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	11917284	52620117	49911275	89	93380											
IRX6	79190	broad.mit.edu	37	chr16	55361683	55361683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacctggttcgccaacgCacgccggcgcctcaagaaag	9	5	11	16	5	1	1	1	0	0	1	3	1	2	1	5	2	1	2	5	2	3	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:55361683C>A	ENST00000290552.7	+	4	1931	c.599C>A	c.(598-600)gCa>gAa	p.A200E	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTCGCCAACGCACGCCGGCGC	0.577													38	64					1.04352e-10	1.14787e-10	1	0	A	55361683	C	A	55361683	3	1	484	1	0	0	0	0	1	0	0	0	7901	710	25	4	613	4	IRX6	16	55361683	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		55361683	34993070	90	93381											
KLHL36	79786	broad.mit.edu	37	chr16	84695244	84695244	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacatctcggggggccaCgactaccaaattggccccta	9	8	11	13	2	1	0	0	0	1	0	2	1	1	0	4	4	2	1	4	4	4	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:84695244C>T	ENST00000564996.1	+	5	1497	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	KLHL36_ENST00000258157.5_Silent_p.H389H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	452										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGGGGGGCCACGACTACCAAA	0.647													9	158					0	0	0	0	T	84695244	C	T	84695244	2	4	484	1	0	0	0	0	0	0	0	1	8441	535	19	1		1	KLHL36	16	84695244	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	29333561	84695244	5659509	91	93382											
TP53	7157	broad.mit.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	13	5	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs121912657		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527		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)			34	17					0	0	0	0	T	7577124	C	T	7577124	3	4	484	1	0	0	0	0	1	0	0	0	16476	507	18	4	472	4	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		7577124	73618086	92	93383											
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	5	11	14	1	2	1	2	0	0	1	2	2	2	1	4	3	2	4	4	3	2	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:7578176C>A	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		GCAAACCAGACCTCAGGCGGC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	49					6.94344e-10	7.58721e-10	1	0	A	7578176	C	A	7578176	5	1	484	1	0	0	0	0	0	0	1	0	16476	521	18	4	621	4	TP53	17	7578176	Splice_Site	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	1052	7578176	73617034	93	93384											
MFAP4	4239	broad.mit.edu	37	chr17	19288009	19288009	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttctggccactgtggtaGgacagggagtcacctggcag	9	8	14	10	0	2	0	1	0	1	0	2	2	2	2	2	5	1	2	2	5	2	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:19288009G>C	ENST00000395592.2	-	6	677	c.606C>G	c.(604-606)tcC>tcG	p.S202S	MFAP4_ENST00000497081.2_Silent_p.S203S|MFAP4_ENST00000299610.4_Silent_p.S178S	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	178	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CACTGTGGTAGGACAGGGAGT	0.612													10	130					0	0	0	0	C	19288009	G	C	19288009	2	2	484	1	0	0	0	0	0	0	0	1	9586	987	35	4		4	MFAP4	17	19288009	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	11709833	19288009	61907201	94	93385											
ATP6V0A1	535	broad.mit.edu	37	chr17	40618496	40618496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatttgtgaatgaagttaGaagatgtgaagaaatggatc	17	11	12	1	0	0	6	0	3	0	3	1	8	0	7	0	1	0	1	0	1	7	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:40618496G>A	ENST00000343619.4	+	3	290	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.R56K	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	56					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AATGAAGTTAGAAGATGTGAA	0.308													8	103					0	0	0	0	A	40618496	G	A	40618496	3	1	484	1	0	0	0	0	1	0	0	0	1172	942	33	2	173	2	ATP6V0A1	17	40618496	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	21330487	40618496	40576714	95	93386											
ARHGAP27	201176	broad.mit.edu	37	chr17	43473378	43473378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgaactggcggaagtgcGagaaggggaagaggggctcg	12	4	19	6	3	0	3	0	1	0	2	1	6	0	5	0	6	2	1	0	6	5	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:43473378G>A	ENST00000532038.1	-	14	1826	c.1691C>T	c.(1690-1692)tCg>tTg	p.S564L	ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S764L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S445L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S786L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S445L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S759L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S418L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	786	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGGAAGTGCGAGAAGGGGAA	0.667													8	20					0	0	0	0	A	43473378	G	A	43473378	3	1	484	1	0	0	0	0	1	0	0	0	878	1059	37	1	324	1	ARHGAP27	17	43473378	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	2854882	43473378	37721832	96	93387											
TUBD1	51174	broad.mit.edu	37	chr17	57955576	57955576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactaaaggagatctgcttGatattcatcagttttgcaca	12	14	7	8	0	4	2	3	1	1	1	4	3	4	2	0	1	2	3	0	1	3	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:57955576G>A	ENST00000325752.3	-	5	934	c.657C>T	c.(655-657)atC>atT	p.I219I	TUBD1_ENST00000539018.1_Silent_p.I3I|TUBD1_ENST00000340993.6_Silent_p.I219I|TUBD1_ENST00000394239.3_Silent_p.I219I|TUBD1_ENST00000592426.1_Silent_p.I219I|TUBD1_ENST00000376094.4_Silent_p.I219I|TUBD1_ENST00000346141.6_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	219					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AGATCTGCTTGATATTCATCA	0.428													4	104					0	0	0	0	A	57955576	G	A	57955576	2	1	484	1	0	0	0	0	0	0	0	1	16858	1280	45	2		2	TUBD1	17	57955576	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	14482198	57955576	23239634	97	93388											
LRRC30	339291	broad.mit.edu	37	chr18	7231786	7231786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagatcttcatcgcagAgggcaacaacatccactcct	11	8	7	15	1	2	2	1	0	1	2	5	2	4	2	3	1	3	3	3	1	2	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr18:7231786A>T	ENST00000383467.2	+	1	664	c.650A>T	c.(649-651)gAg>gTg	p.E217V		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	217										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCATCGCAGAGGGCAACAAC	0.562													28	66					0	0	0	0	T	7231786	A	T	7231786	3	4	484	1	0	0	0	0	1	0	0	0	9049	304	11	5	652	5	LRRC30	18	7231786	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08		7231786	70845462	98	93389											
APCDD1	147495	broad.mit.edu	37	chr18	10471914	10471914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgccatgcatgaacttcaGctcatccgggtggagaagca	10	10	11	10	1	2	2	2	1	0	1	3	3	3	2	2	2	5	3	2	2	2	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr18:10471914G>A	ENST00000355285.4	+	3	984	c.630G>A	c.(628-630)caG>caA	p.Q210Q	APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	210					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ATGAACTTCAGCTCATCCGGG	0.582													52	192					0	0	0	0	A	10471914	G	A	10471914	2	1	484	1	0	0	0	0	0	0	0	1	766	962	34	4		4	APCDD1	18	10471914	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	3240128	10471914	67605334	99	93390											
ATCAY	85300	broad.mit.edu	37	chr19	3918841	3918841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttgtgctgcccaggtctGaagagaagccagaggtggca	10	8	15	8	0	1	3	0	1	1	2	1	4	1	3	2	3	3	3	2	3	2	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:3918841G>C	ENST00000450849.2	+	11	1506	c.1039G>C	c.(1039-1041)Gaa>Caa	p.E347Q	ATCAY_ENST00000301260.6_Missense_Mutation_p.E347Q|ATCAY_ENST00000398448.3_Missense_Mutation_p.E353Q|ATCAY_ENST00000600960.1_Missense_Mutation_p.E347Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	347					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCCAGGTCTGAAGAGAAGCC	0.632													17	90					0	0	0	0	C	3918841	G	C	3918841	3	2	484	1	0	0	0	0	1	0	0	0	1081	1291	45	2	1077	2	ATCAY	19	3918841	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08		3918841	55210142	100	93391											
ZNF441	126068	broad.mit.edu	37	chr19	11891225	11891225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaccatggagatggacctCgtatatgtaagttgtgtgga	11	11	12	7	1	0	1	0	0	0	1	1	4	0	3	2	3	0	3	2	3	3	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:11891225C>T	ENST00000357901.4	+	4	688	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCGTATATGTAA	0.398													6	191					0	0	0	0	T	11891225	C	T	11891225	3	4	484	1	0	0	0	0	1	0	0	0	18009	884	31	1	600	1	ZNF441	19	11891225	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	7972384	11891225	47237758	101	93392											
ZNF441	126068	broad.mit.edu	37	chr19	11891446	11891446	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttcctgttacactcaactAtatgaaaggactcacactgg	12	12	7	10	0	2	1	2	1	0	0	3	2	3	2	1	2	2	2	1	2	5	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:11891446A>C	ENST00000357901.4	+	4	909	c.807A>C	c.(805-807)ctA>ctC	p.L269L	ZNF441_ENST00000454339.2_Silent_p.L202L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACACTCAACTATATGAAAGGA	0.388													6	142					0	0	0	0	C	11891446	A	C	11891446	2	2	484	1	0	0	0	0	0	0	0	1	18009	436	16	5		5	ZNF441	19	11891446	Silent	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08	221	11891446	47237537	102	93393											
HOOK2	29911	broad.mit.edu	37	chr19	12883692	12883692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaatgaggctcacatctGggagatgctcttctgacaca	10	10	9	12	0	4	3	1	2	3	1	5	4	5	3	1	2	1	2	1	2	1	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:12883692G>A	ENST00000264827.5	-	5	460	c.290C>T	c.(289-291)cCa>cTa	p.P97L	HOOK2_ENST00000397668.3_Missense_Mutation_p.P97L|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	97	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCTCACATCTGGGAGATGCTC	0.602													8	93					0	0	0	0	A	12883692	G	A	12883692	3	1	484	1	0	0	0	0	1	0	0	0	7333	1348	47	4	1945	4	HOOK2	19	12883692	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	992246	12883692	46245291	103	93394											
WDR88	126248	broad.mit.edu	37	chr19	33651385	33651385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtagcagaaggctacCggaagctctctttgaaggta	11	9	14	7	1	1	2	0	1	1	1	2	4	1	4	1	4	3	5	1	4	6	4	rs142717725	byFrequency	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:33651385C>T	ENST00000361680.2	+	8	1141	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	WDR88_ENST00000355868.3_Missense_Mutation_p.R355W			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	355										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGAAGGCTACCGGAAGCTCTC	0.507													88	211					0	0	0	0	T	33651385	C	T	33651385	3	4	484	1	0	0	0	0	1	0	0	0	17431	643	23	1	1093	1	WDR88	19	33651385	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	20767693	33651385	25477598	104	93395											
ZNF790	388536	broad.mit.edu	37	chr19	37309554	37309554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtggctacttttcttGcatccataaggttctgcatc	9	15	8	9	0	2	1	0	0	2	1	4	1	3	1	1	2	3	4	1	2	3	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:37309554G>C	ENST00000356725.4	-	5	1812	c.1692C>G	c.(1690-1692)tgC>tgG	p.C564W	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACTTTTCTTGCATCCATAAG	0.363													17	255					0	0	0	0	C	37309554	G	C	37309554	3	2	484	1	0	0	0	0	1	0	0	0	18255	1311	46	4	222	4	ZNF790	19	37309554	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	3658169	37309554	21819429	105	93396											
LILRB4	11006	broad.mit.edu	37	chr19	55178164	55178164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgctgccgtgaagaaCacacagcctgaggacggggt	10	5	16	10	2	0	3	0	2	0	1	0	4	0	4	2	4	4	2	2	4	2	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:55178164C>A	ENST00000391736.1	+	12	1320	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K	LILRB4_ENST00000270452.2_Missense_Mutation_p.N335K|LILRB4_ENST00000391734.3_Missense_Mutation_p.N335K|LILRB4_ENST00000430952.2_Missense_Mutation_p.N335K|LILRB4_ENST00000391733.3_Missense_Mutation_p.N336K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	335			N -> D (in dbSNP:rs11574576).			integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCGTGAAGAACACACAGCCTG	0.612													40	60					1.04594e-18	1.19847e-18	1	0	A	55178164	C	A	55178164	3	1	484	1	0	0	0	0	1	0	0	0	8847	477	17	4	1043	4	LILRB4	19	55178164	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	17868610	55178164	3950819	106	93397											
MYBL2	4605	broad.mit.edu	37	chr20	42331451	42331451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctctgtcccctgtcactGagaatagcaccagtctgtcc	7	11	9	14	0	3	1	1	1	2	1	5	2	5	1	4	1	1	2	4	1	2	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:42331451G>A	ENST00000217026.4	+	8	1400	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	425						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGTCACTGAGAATAGCAC	0.612													10	55					0	0	0	0	A	42331451	G	A	42331451	3	1	484	1	0	0	0	0	1	0	0	0	10080	1291	45	2	1303	2	MYBL2	20	42331451	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08		42331451	20694069	107	93398											
LAMA5	3911	broad.mit.edu	37	chr20	60908967	60908967	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccactcacagttggcgcaGgtggccgacctgccctcctc	5	7	10	19	2	1	0	1	0	0	0	3	1	2	0	6	3	1	2	6	3	0	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:60908967G>C	ENST00000252999.3	-	23	2934	c.2868C>G	c.(2866-2868)acC>acG	p.T956T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	956	Domain IV 1 (domain IV B).			T -> A (in Ref. 1; AAM12527).	angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTTGGCGCAGGTGGCCGACC	0.697													4	14					0	0	0	0	C	60908967	G	C	60908967	2	2	484	1	0	0	0	0	0	0	0	1	8662	987	35	4		4	LAMA5	20	60908967	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	18577516	60908967	2116553	108	93399											
TMPRSS15	5651	broad.mit.edu	37	chr21	19713857	19713857	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttgtttttaaaagcattAaaagcaacctgcaattcaga	16	13	5	7	0	2	1	1	0	1	1	2	1	2	1	1	0	4	4	1	0	6	6			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:19713857A>G	ENST00000284885.3	-	13	1470	c.1437T>C	c.(1435-1437)ttT>ttC	p.F479F		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	479	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAAAAGCATTAAAAGCAACCT	0.373													33	97					0	0	0	0	G	19713857	A	G	19713857	2	3	484	1	0	0	0	0	0	0	0	1	16340	359	13	5		5	TMPRSS15	21	19713857	Silent	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08		19713857	28416038	109	93400											
DSCAM	1826	broad.mit.edu	37	chr21	41741069	41741069	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctgcctcgtctctccGgtgtatcgatgccgcgtgat	3	14	11	13	5	2	1	0	1	2	0	6	2	3	1	3	1	3	2	3	1	1	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:41741069G>A	ENST00000400454.1	-	4	1089	c.612C>T	c.(610-612)acC>acT	p.T204T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	204	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGTCTCTCCGGTGTATCGAT	0.438													18	80					0	0	0	0	A	41741069	G	A	41741069	2	1	484	1	0	0	0	0	0	0	0	1	4804	1103	39	1		1	DSCAM	21	41741069	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	22027212	41741069	6388826	110	93401											
UBASH3A	53347	broad.mit.edu	37	chr21	43857620	43857620	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgcgctactggacagtggTatcagaatcagctctgtgtt	9	11	12	9	2	3	1	2	0	1	1	3	3	3	2	0	2	2	4	0	2	3	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:43857620T>C	ENST00000319294.6	+	11	1447	c.1416T>C	c.(1414-1416)ggT>ggC	p.G472G	UBASH3A_ENST00000291535.6_Silent_p.G434G|UBASH3A_ENST00000398367.1_Silent_p.G434G	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	472	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGGACAGTGGTATCAGAATCA	0.537													17	61					0	0	0	0	C	43857620	T	C	43857620	2	2	484	1	0	0	0	0	0	0	0	1	16935	1625	57	5		5	UBASH3A	21	43857620	Silent	SNP	T	TCGA-T2-A6WZ-01A-21D-A34J-08	2116551	43857620	4272275	111	93402											
PCBP3	54039	broad.mit.edu	37	chr21	47360053	47360053	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggtcctcagagcgtcAgatcaccatcacggggaccc	10	5	13	13	2	4	2	4	0	0	2	5	4	5	4	3	4	1	0	3	4	1	0			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:47360053A>T	ENST00000400314.1	+	15	1357	c.1019A>T	c.(1018-1020)cAg>cTg	p.Q340L	PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.Q330L|PCBP3_ENST00000400308.1_Missense_Mutation_p.Q314L|PCBP3_ENST00000400309.1_Missense_Mutation_p.Q339L|PCBP3_ENST00000400310.1_Missense_Mutation_p.Q320L|PCBP3_ENST00000449640.1_Missense_Mutation_p.Q340L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	340	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCAGAGCGTCAGATCACCATC	0.547													4	109					0	0	0	0	T	47360053	A	T	47360053	3	4	484	1	0	0	0	0	1	0	0	0	11573	188	7	5	1069	5	PCBP3	21	47360053	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08	3502433	47360053	769842	112	93403											
RFPL1	5988	broad.mit.edu	37	chr22	29837559	29837559	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggatgccgacacagcCaacaacttcctcctcatttc	10	10	5	16	1	1	0	1	0	0	0	4	2	3	1	5	1	4	0	5	1	2	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:29837559C>G	ENST00000354373.2	+	2	611	c.402C>G	c.(400-402)gcC>gcG	p.A134A	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	134	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCGACACAGCCAACAACTTCC	0.488													15	188					0	0	0	0	G	29837559	C	G	29837559	2	3	484	1	0	0	0	0	0	0	0	1	13335	581	21	4		4	RFPL1	22	29837559	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		29837559	21467007	113	93404											
CBX6	23466	broad.mit.edu	37	chr22	39267494	39267494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccaggttaccttcaggagGaaagttttgggtttgggtcc	7	12	15	7	0	1	0	1	0	0	0	2	2	2	2	3	6	1	3	3	6	2	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:39267494G>T	ENST00000407418.3	-	4	360	c.237C>A	c.(235-237)ttC>ttA	p.F79L	CBX6_ENST00000216083.6_Missense_Mutation_p.F79L			O95503	CBX6_HUMAN	chromobox homolog 6	79					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CCTTCAGGAGGAAAGTTTTGG	0.642													12	106					0.000151284	0.000156012	1	0	T	39267494	G	T	39267494	3	4	484	1	0	0	0	0	1	0	0	0	2747	1165	41	2	1009	2	CBX6	22	39267494	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	9429935	39267494	12037072	114	93405											
GTSE1	51512	broad.mit.edu	37	chr22	46709813	46709813	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaagaagaccctgttaaaAgcacccggctctaccagcaa	14	6	8	13	1	1	3	0	1	1	2	1	3	1	3	3	1	3	4	3	1	6	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:46709813A>T	ENST00000454366.1	+	6	1166	c.954A>T	c.(952-954)aaA>aaT	p.K318N		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	299					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCCTGTTAAAAGCACCCGGCT	0.507											OREG0026653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	109					0	0	0	0	T	46709813	A	T	46709813	3	4	484	1	0	0	0	0	1	0	0	0	6935	69	3	5	972	5	GTSE1	22	46709813	Missense_Mutation	SNP	A	TCGA-T2-A6WZ-01A-21D-A34J-08	7442319	46709813	4594753	115	93406											
DMD	1756	broad.mit.edu	37	chrX	32613897	32613897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttgttcttccaaagcagCagttgcgtgatctccactag	10	12	9	10	1	2	1	0	1	2	0	4	1	3	1	2	0	3	5	2	0	3	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:32613897C>G	ENST00000357033.4	-	13	1785	c.1579G>C	c.(1579-1581)Gct>Cct	p.A527P	DMD_ENST00000288447.4_Missense_Mutation_p.A519P|DMD_ENST00000378677.2_Missense_Mutation_p.A523P	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	527			Missing (in BMD).		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			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)				TCCAAAGCAGCAGTTGCGTGA	0.348													7	68					0	0	0	0	G	32613897	C	G	32613897	3	3	484	1	0	0	0	0	1	0	0	0	4617	710	25	4	9989	4	DMD	23	32613897	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08		32613897	122656663	116	93407											
BCOR	54880	broad.mit.edu	37	chrX	39933063	39933063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgttaggacttggcccGggcaccacccaggatgaggg	7	8	14	12	2	1	1	0	1	1	0	2	3	1	3	3	5	0	2	3	5	1	3			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:39933063G>A	ENST00000342274.4	-	4	1898	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	BCOR_ENST00000378455.4_Silent_p.P512P|BCOR_ENST00000378444.4_Silent_p.P512P|BCOR_ENST00000397354.3_Silent_p.P512P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	512	Interaction with BCL6.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GACTTGGCCCGGGCACCACCC	0.502			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						3	46					0	0	0	0	A	39933063	G	A	39933063	2	1	484	1	0	0	0	0	0	0	0	1	1390	1103	39	1		1	BCOR	23	39933063	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	7319166	39933063	115337497	117	93408											
SHROOM4	57477	broad.mit.edu	37	chrX	50350953	50350953	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctttggggcgccaagctGatgtgactctctgagaaggc	7	10	15	9	1	1	3	0	3	1	1	2	4	1	3	1	3	2	2	1	3	2	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:50350953G>A	ENST00000376020.2	-	6	3214	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	SHROOM4_ENST00000289292.7_Silent_p.I1063I|SHROOM4_ENST00000460112.3_Silent_p.I947I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1063					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCGCCAAGCTGATGTGACTCT	0.572													9	34					0	0	0	0	A	50350953	G	A	50350953	2	1	484	1	0	0	0	0	0	0	0	1	14384	1280	45	2		2	SHROOM4	23	50350953	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	10417890	50350953	104919607	118	93409											
PAK3	5063	broad.mit.edu	37	chrX	110406177	110406177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagcctccattggcccCtcctgtgtctgaagaagaag	9	10	10	12	0	2	4	0	2	2	2	4	4	4	4	5	1	1	0	5	1	3	1			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:110406177C>G	ENST00000519681.1	+	10	1008	c.566C>G	c.(565-567)cCt>cGt	p.P189R	PAK3_ENST00000446737.1_Missense_Mutation_p.P168R|PAK3_ENST00000425146.1_Missense_Mutation_p.P168R|PAK3_ENST00000262836.4_Missense_Mutation_p.P183R|PAK3_ENST00000417227.1_Missense_Mutation_p.P189R|PAK3_ENST00000372010.1_Missense_Mutation_p.P183R|PAK3_ENST00000360648.4_Missense_Mutation_p.P204R|PAK3_ENST00000518291.1_Missense_Mutation_p.P204R|PAK3_ENST00000372007.4_Missense_Mutation_p.P168R			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	183	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCATTGGCCCCTCCTGTGTCt	0.388										TSP Lung(19;0.15)			66	60					0	0	0	0	G	110406177	C	G	110406177	3	3	484	1	0	0	0	0	1	0	0	0	11473	681	24	4	637	4	PAK3	23	110406177	Missense_Mutation	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	60055224	110406177	44864383	119	93410											
AMOT	154796	broad.mit.edu	37	chrX	112054574	112054574	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttggaggatgacttCacgaggttctcatatgcctc	7	15	9	10	1	3	1	2	1	2	0	6	4	3	3	1	3	1	1	1	3	1	5			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:112054574C>A	ENST00000371959.3	-	3	1439	c.1440G>T	c.(1438-1440)gtG>gtT	p.V480V	AMOT_ENST00000304758.1_Silent_p.V71V|AMOT_ENST00000524145.1_Silent_p.V480V|AMOT_ENST00000371958.1_Silent_p.V248V|AMOT_ENST00000371962.1_Silent_p.V248V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	480					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGGATGACTTCACGAGGTTCT	0.488													5	123					8.12818e-05	8.43491e-05	1	0	A	112054574	C	A	112054574	2	1	484	1	0	0	0	0	0	0	0	1	582	813	29	2		2	AMOT	23	112054574	Silent	SNP	C	TCGA-T2-A6WZ-01A-21D-A34J-08	1648397	112054574	43215986	120	93411											
CXorf40B	541578	broad.mit.edu	37	chrX	149100951	149100951	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgggagttaagtcttcGgggcattgcaaagtttcccc	8	12	11	10	2	2	0	1	0	1	0	5	1	3	1	2	3	1	4	2	3	2	4			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:149100951G>C	ENST00000370406.3	-	5	1116	c.288C>G	c.(286-288)ccC>ccG	p.P96P	CXorf40B_ENST00000462691.1_Silent_p.P96P|CXorf40B_ENST00000355203.2_Silent_p.P96P|CXorf40B_ENST00000370404.1_Silent_p.P96P			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	96										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTAAGTCTTCGGGGCATTGCA	0.483													43	32					0	0	0	0	C	149100951	G	C	149100951	2	2	484	1	0	0	0	0	0	0	0	1	4141	1103	39	3		3	CXorf40B	23	149100951	Silent	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	37046377	149100951	6169609	121	93412											
RPL10	6134	broad.mit.edu	37	chrX	153627858	153627858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcatttttgacctggggcGgaaaaaggcaaaagtggatg	12	9	14	6	2	0	1	0	1	0	0	1	3	0	3	1	5	0	2	1	5	4	2			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:153627858G>A	ENST00000424325.2	+	4	301	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Missense_Mutation_p.R38Q	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	38					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCTGGGGCGGAAAAAGGCA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	220					0	0	0	0	A	153627858	G	A	153627858	3	1	484	1	0	0	0	0	1	0	0	0	13639	1116	39	1	123	1	RPL10	23	153627858	Missense_Mutation	SNP	G	TCGA-T2-A6WZ-01A-21D-A34J-08	4526907	153627858	1642702	122	93413											
NBPF1	55672	broad.mit.edu	37	chr1	16890531	16890531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacgtcaagggcgaagctGatgtgctgttcctcaaatga	10	10	11	10	2	2	2	2	2	0	0	4	3	4	2	2	1	2	3	2	1	3	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:16890531G>A	ENST00000430580.2	-	29	4214	c.3327C>T	c.(3325-3327)atC>atT	p.I1109I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1089	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGCGAAGCTGATGTGCTGTT	0.458													85	851					0	0	0	0	A	16890531	G	A	16890531	2	1	485	1	0	0	0	0	0	0	0	1	10262	1280	45	2		2	NBPF1	1	16890531	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08		16890531	232360090	1	93414											
SLC6A9	6536	broad.mit.edu	37	chr1	44475695	44475695	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggcttgcaaactggccGaaggagagctccatgaagaa	12	6	12	11	1	0	3	0	1	0	2	1	5	1	3	3	3	3	3	3	3	4	1	rs140834307		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:44475695G>A	ENST00000372310.3	-	4	426	c.261C>T	c.(259-261)ttC>ttT	p.F87F	SLC6A9_ENST00000360584.2_Silent_p.F160F|SLC6A9_ENST00000357730.2_Silent_p.F106F|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372307.3_Silent_p.F22F|SLC6A9_ENST00000537678.1_Silent_p.F22F|SLC6A9_ENST00000372306.3_Silent_p.F87F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	160						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAAACTGGCCGAAGGAGAGCT	0.592													49	30					0	0	0	0	A	44475695	G	A	44475695	2	1	485	1	0	0	0	0	0	0	0	1	14779	1049	37	1		1	SLC6A9	1	44475695	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	27585164	44475695	204774926	2	93415											
PTCH2	8643	broad.mit.edu	37	chr1	45288785	45288785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcacaggcagcagcaCgagtccatggaggaggccca	12	2	14	13	1	0	0	0	0	0	0	1	3	1	2	2	4	4	5	2	4	0	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:45288785C>T	ENST00000447098.2	-	21	3324	c.3313G>A	c.(3313-3315)Gtg>Atg	p.V1105M	PTCH2_ENST00000372192.3_Missense_Mutation_p.V1105M	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	1105					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCAGCAGCACGAGTCCATGG	0.667									Basal Cell Nevus syndrome				5	16					0	0	0	0	T	45288785	C	T	45288785	3	4	485	1	0	0	0	0	1	0	0	0	12810	536	19	1	326	1	PTCH2	1	45288785	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	813090	45288785	203961836	3	93416											
PDE4B	5142	broad.mit.edu	37	chr1	66723492	66723492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaggtccttgccagcttgcGaagtgtgagaaacaacttca	11	10	10	10	1	1	1	1	1	0	1	2	3	2	1	2	1	5	1	2	1	4	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:66723492G>A	ENST00000423207.2	+	4	970	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	PDE4B_ENST00000371049.3_Missense_Mutation_p.R177Q|PDE4B_ENST00000329654.4_Missense_Mutation_p.R177Q|PDE4B_ENST00000371048.3_3'UTR	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	177					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GCCAGCTTGCGAAGTGTGAGA	0.398													37	68					0	0	0	0	A	66723492	G	A	66723492	3	1	485	1	0	0	0	0	1	0	0	0	11711	1058	37	1	788	1	PDE4B	1	66723492	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	21434707	66723492	182527129	4	93417											
RPRD2	23248	broad.mit.edu	37	chr1	150390155	150390155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaatgcaatcatattcCgtgaatcatttgctgatgta	14	13	8	6	1	2	2	2	2	0	0	3	3	3	3	1	1	2	3	1	1	6	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:150390155C>T	ENST00000401000.4	+	2	354	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	RPRD2_ENST00000369067.3_Missense_Mutation_p.R97C|RPRD2_ENST00000369068.4_Missense_Mutation_p.R97C|RPRD2_ENST00000539519.1_Missense_Mutation_p.R97C|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	97	CID.						protein binding	p.R97S(4)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATCATATTCCGTGAATCATT	0.363													12	144					0	0	0	0	T	150390155	C	T	150390155	3	4	485	1	0	0	0	0	1	0	0	0	13702	652	23	1	295	1	RPRD2	1	150390155	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	83666663	150390155	98860466	5	93418											
SPTA1	6708	broad.mit.edu	37	chr1	158585173	158585173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagttgacgcttcatcgcCtggatctccttctgttttct	4	18	8	11	2	4	1	1	1	3	0	6	2	4	2	2	1	0	4	2	1	1	6			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:158585173C>T	ENST00000368148.3	-	48	6801	c.6621G>A	c.(6619-6621)caG>caA	p.Q2207Q	SPTA1_ENST00000368147.3_Silent_p.Q2204Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2207					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCATCGCCTGGATCTCCT	0.468													56	90					0	0	0	0	T	158585173	C	T	158585173	2	4	485	1	0	0	0	0	0	0	0	1	15206	680	24	4		4	SPTA1	1	158585173	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	8195018	158585173	90665448	6	93419											
FCGR3A	2214	broad.mit.edu	37	chr1	161518268	161518268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggtttgtctggcaccTgtactctccactgtcgtcga	6	12	12	11	2	2	1	0	0	2	1	5	3	2	1	2	3	1	3	2	3	1	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:161518268T>C	ENST00000367969.3	-	3	553	c.370A>G	c.(370-372)Agg>Ggg	p.R124G	FCGR3A_ENST00000443193.1_Missense_Mutation_p.R123G|FCGR3A_ENST00000436743.1_Missense_Mutation_p.R88G|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R88G|FCGR3A_ENST00000476031.1_5'UTR	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	88	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCTGGCACCTGTACTCTCCA	0.522													13	248					0	0	0	0	C	161518268	T	C	161518268	3	2	485	1	0	0	0	0	1	0	0	0	5829	1579	55	5	514	5	FCGR3A	1	161518268	Missense_Mutation	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08	2933095	161518268	87732353	7	93420											
IARS2	55699	broad.mit.edu	37	chr1	220298619	220298619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaactagtggaacaacacGgcagtgatatctggtggact	13	10	11	7	1	1	1	0	1	1	0	1	3	1	3	0	4	3	1	0	4	6	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:220298619G>A	ENST00000366922.1	+	13	1796	c.1465G>A	c.(1465-1467)Ggc>Agc	p.G489S	IARS2_ENST00000302637.5_Missense_Mutation_p.G561S			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	561					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAACAACACGGCAGTGATAT	0.373													16	75					0	0	0	0	A	220298619	G	A	220298619	3	1	485	1	0	0	0	0	1	0	0	0	7527	1116	39	1	1731	1	IARS2	1	220298619	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	58780351	220298619	28952002	8	93421											
CDC42BPA	8476	broad.mit.edu	37	chr1	227261648	227261648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatttctgcatccagagcCgactgcaactccagtctagc	9	11	7	14	1	2	1	0	0	2	1	4	2	4	1	3	0	5	2	3	0	3	3	rs35017425	byFrequency	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:227261648C>T	ENST00000366769.3	-	19	3943	c.2652G>A	c.(2650-2652)tcG>tcA	p.S884S	CDC42BPA_ENST00000334218.5_Silent_p.S884S|CDC42BPA_ENST00000366764.2_Silent_p.S884S|CDC42BPA_ENST00000366765.3_Silent_p.S884S|CDC42BPA_ENST00000366766.2_Silent_p.S884S|CDC42BPA_ENST00000535525.1_Silent_p.S884S|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Silent_p.S803S	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	884					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S884S(2)|p.S803S(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATCCAGAGCCGACTGCAACT	0.388													53	112					0	0	0	0	T	227261648	C	T	227261648	2	4	485	1	0	0	0	0	0	0	0	1	3101	639	23	1		1	CDC42BPA	1	227261648	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	6963029	227261648	21988973	9	93422											
PLB1	151056	broad.mit.edu	37	chr2	28805371	28805371	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcccaaggatgatcctcAggtcagacagatacttctcc	11	9	8	13	0	3	3	2	1	1	2	5	4	4	4	3	2	2	0	3	2	2	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:28805371A>G	ENST00000422425.2	+	24	1743	c.1700_splice	c.e24+1	p.R567_splice	PLB1_ENST00000329020.6_Splice_Site_p.R266_splice|PLB1_ENST00000327757.5_Splice_Site_p.R578_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	578	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GATGATCCTCAGGTCAGACAG	0.507													3	14					0	0	0	0	G	28805371	A	G	28805371	5	3	485	1	0	0	0	0	0	0	1	0	12096	202	7	5	1863	5	PLB1	2	28805371	Splice_Site	SNP	A	TCGA-T2-A6X0-01A-11D-A34J-08		28805371	214394002	10	93423											
EPAS1	2034	broad.mit.edu	37	chr2	46605872	46605872	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgagaagctcttcgccaTggacacagaggccaaggacc	12	6	12	11	1	1	2	0	1	1	2	2	6	1	4	3	3	1	1	3	3	2	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:46605872T>A	ENST00000263734.3	+	11	2030	c.1520T>A	c.(1519-1521)aTg>aAg	p.M507K		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	507	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTTCGCCATGGACACAGAG	0.532													4	75					0	0	0	0	A	46605872	T	A	46605872	3	1	485	1	0	0	0	0	1	0	0	0	5188	1464	51	5	1562	5	EPAS1	2	46605872	Missense_Mutation	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08	17800501	46605872	196593501	11	93424											
TTN	7273	broad.mit.edu	37	chr2	179588987	179588987	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaacagcagaactaacCtgaaacatcaaccacagctg	20	4	6	11	0	1	3	1	1	0	2	1	3	1	3	2	0	7	2	2	0	7	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:179588987C>A	ENST00000589042.1	-	72	21339	c.21115_splice	c.e72+1	p.D7039_splice	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.D5795_splice|TTN_ENST00000591111.1_Splice_Site_p.D6722_splice|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6722	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAACTAACCTGAAACATCA	0.388													6	28					5.9392e-07	6.47306e-07	1	0	A	179588987	C	A	179588987	5	1	485	1	0	0	0	0	0	0	1	0	16831	695	24	4	83578	4	TTN	2	179588987	Splice_Site	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	132983115	179588987	63610386	12	93425											
MYO1B	4430	broad.mit.edu	37	chr2	192250645	192250645	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccatgctggatgaagaGtgcctcagacctggcacagt	9	8	13	11	0	1	3	1	1	0	2	1	4	1	4	3	3	2	2	3	3	1	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:192250645G>C	ENST00000392318.3	+	16	1636	c.1389G>C	c.(1387-1389)gaG>gaC	p.E463D	MYO1B_ENST00000304164.4_Missense_Mutation_p.E463D|MYO1B_ENST00000392316.1_Missense_Mutation_p.E463D|MYO1B_ENST00000339514.4_Missense_Mutation_p.E463D	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	463	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGGATGAAGAGTGCCTCAGAC	0.428													71	137					0	0	0	0	C	192250645	G	C	192250645	3	2	485	1	0	0	0	0	1	0	0	0	10139	1020	36	4	1447	4	MYO1B	2	192250645	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	12661658	192250645	50948728	13	93426											
MAP2	4133	broad.mit.edu	37	chr2	210565034	210565034	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagctctggctcccagtgTatttaaacaggcaaaggaca	13	9	9	10	0	2	0	1	0	1	0	3	1	3	1	1	3	2	4	1	3	4	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:210565034T>A	ENST00000360351.4	+	10	5062	c.4556T>A	c.(4555-4557)gTa>gAa	p.V1519E	MAP2_ENST00000199940.6_Missense_Mutation_p.V163E|MAP2_ENST00000392194.1_Missense_Mutation_p.V163E|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.V1515E|MAP2_ENST00000361559.4_Missense_Mutation_p.V163E	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1519					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GCTCCCAGTGTATTTAAACAG	0.358													44	81					0	0	0	0	A	210565034	T	A	210565034	3	1	485	1	0	0	0	0	1	0	0	0	9304	1638	57	5	4582	5	MAP2	2	210565034	Missense_Mutation	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08	18314389	210565034	32634339	14	93427											
USP37	57695	broad.mit.edu	37	chr2	219341590	219341590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttcctgctgctgttcGttgcctaacatttcacaaag	8	14	8	11	1	2	0	1	0	1	0	4	0	3	0	2	1	4	4	2	1	2	5			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:219341590G>A	ENST00000258399.3	-	19	2428	c.2016C>T	c.(2014-2016)aaC>aaT	p.N672N	USP37_ENST00000415516.1_Silent_p.N578N|USP37_ENST00000418019.1_Silent_p.N672N|USP37_ENST00000454775.1_Silent_p.N672N	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	672					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCTGCTGTTCGTTGCCTAACA	0.393													6	109					0	0	0	0	A	219341590	G	A	219341590	2	1	485	1	0	0	0	0	0	0	0	1	17164	1136	40	1		1	USP37	2	219341590	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	8776556	219341590	23857783	15	93428											
VGLL4	9686	broad.mit.edu	37	chr3	11744452	11744452	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctcacttacgtttttcGtcatcagcatgcaccagaga	10	12	6	13	2	3	1	3	0	0	1	5	2	4	1	2	0	3	3	2	0	1	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:11744452G>A	ENST00000404339.1	-	0	407				VGLL4_ENST00000273038.3_Silent_p.D19D			Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TACGTTTTTCGTCATCAGCAT	0.398													18	36					0	0	0	0	A	11744452	G	A	11744452	1	1	485	1	0	0	0	0	0	0	0	0	17257	1136	40	1		1	VGLL4	3	11744452	Translation_Start_Site	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08		11744452	186277978	16	93429											
VGLL3	389136	broad.mit.edu	37	chr3	87027679	87027679	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgaattcttacctcGccataggggggttagcccca	7	13	10	11	1	1	1	0	1	1	0	2	1	1	1	4	3	3	2	4	3	4	6			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:87027679G>A	ENST00000398399.2	-	2	763	c.400C>T	c.(400-402)Cga>Tga	p.R134*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.R134*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTCTTACCTCGCCATAGGGGG	0.502													36	69					0	0	0	0	A	87027679	G	A	87027679	4	1	485	1	0	0	0	0	0	1	0	0	17256	1095	38	1	592	1	VGLL3	3	87027679	Nonsense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	75283227	87027679	110994751	17	93430											
EPHB1	2047	broad.mit.edu	37	chr3	134670849	134670849	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcctattgggcgatgcAcctgcaagcctggctatgag	7	10	14	10	1	0	1	0	1	0	0	0	2	0	1	3	3	4	3	3	3	3	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:134670849A>G	ENST00000398015.3	+	3	1130	c.760A>G	c.(760-762)Acc>Gcc	p.T254A	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	254	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGGCGATGCACCTGCAAGCC	0.582													21	306					0	0	0	0	G	134670849	A	G	134670849	3	3	485	1	0	0	0	0	1	0	0	0	5212	159	6	5	770	5	EPHB1	3	134670849	Missense_Mutation	SNP	A	TCGA-T2-A6X0-01A-11D-A34J-08	47643170	134670849	63351581	18	93431											
FOXL2	668	broad.mit.edu	37	chr3	138665391	138665391	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcgatgagcgccacgtaCgagtacgggggcttctgcgc	7	7	16	11	6	1	1	0	1	1	0	1	3	1	1	1	3	4	3	1	3	2	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:138665391C>T	ENST00000330315.3	-	1	591	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	58			S -> L (in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity).		convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GCGCCACGTACGAGTACGGGG	0.692			Mis		granulosa-cell tumour of the ovary		"Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"						25	137					0	0	0	0	T	138665391	C	T	138665391	2	4	485	1	0	0	0	0	0	0	0	1	6064	523	19	1		1	FOXL2	3	138665391	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	3994542	138665391	59357039	19	93432											
CHRD	8646	broad.mit.edu	37	chr3	184102332	184102332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgcccccaggccgtggGtatctgccctgggctgggtg	2	8	15	16	1	1	0	0	0	1	0	1	0	1	0	6	4	2	2	6	4	1	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:184102332G>A	ENST00000204604.1	+	13	1694	c.1448G>A	c.(1447-1449)gGt>gAt	p.G483D	CHRD_ENST00000545352.1_Missense_Mutation_p.G113D|CHRD_ENST00000450923.1_Missense_Mutation_p.G483D|CHRD_ENST00000348986.3_Missense_Mutation_p.G443D|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	483	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G196A(2)|p.G483A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCGTGGGTATCTGCCCT	0.607													62	334					0	0	0	0	A	184102332	G	A	184102332	3	1	485	1	0	0	0	0	1	0	0	0	3401	1261	44	4	1498	4	CHRD	3	184102332	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	45436941	184102332	13920098	20	93433											
MUC4	4585	broad.mit.edu	37	chr3	195491938	195491938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgtagctgcagcacacGcctcctcgccaagaggtgaa	9	5	12	15	3	0	2	0	1	0	1	2	2	1	2	4	2	3	4	4	2	3	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:195491938G>A	ENST00000463781.3	-	10	14313	c.13854C>T	c.(13852-13854)ggC>ggT	p.G4618G	MUC4_ENST00000349607.4_Silent_p.G331G|MUC4_ENST00000475231.1_Silent_p.G4566G|MUC4_ENST00000346145.4_Silent_p.G382G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1375					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCAGCACACGCCTCCTCGCC	0.647													13	85					0	0	0	0	A	195491938	G	A	195491938	2	1	485	1	0	0	0	0	0	0	0	1	10048	1074	38	1		1	MUC4	3	195491938	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	11389606	195491938	2530492	21	93434											
GABRA2	2555	broad.mit.edu	37	chr4	46334667	46334667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagggccaaaactggtcaCgtagatgttagtgaagactt	13	9	12	7	1	1	3	1	1	0	2	1	4	1	3	1	2	1	2	1	2	5	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:46334667C>T	ENST00000510861.1	-	4	393	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	GABRA2_ENST00000515082.1_Missense_Mutation_p.V74M|GABRA2_ENST00000381620.4_Missense_Mutation_p.V74M|GABRA2_ENST00000514090.1_Missense_Mutation_p.V74M|GABRA2_ENST00000356504.1_Missense_Mutation_p.V74M|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000507069.1_Missense_Mutation_p.V74M			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	74					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACTGGTCACGTAGATGTTA	0.343													37	41					0	0	0	0	T	46334667	C	T	46334667	3	4	485	1	0	0	0	0	1	0	0	0	6209	536	19	1	1163	1	GABRA2	4	46334667	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		46334667	144819609	22	93435											
TMEM165	55858	broad.mit.edu	37	chr4	56291574	56291574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcatcgtttttttggcGtttgcattttctgcactatt	5	19	10	7	2	1	0	0	0	1	0	2	1	1	1	0	3	2	5	0	3	1	8			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:56291574G>A	ENST00000381334.5	+	6	1163	c.930G>A	c.(928-930)gcG>gcA	p.A310A	TMEM165_ENST00000542052.1_Silent_p.A247A|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Silent_p.A115A	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	310						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTTTTTGGCGTTTGCATTTT	0.313													32	85					0	0	0	0	A	56291574	G	A	56291574	2	1	485	1	0	0	0	0	0	0	0	1	16174	1132	40	1		1	TMEM165	4	56291574	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	9956907	56291574	134862702	23	93436											
CENPE	1062	broad.mit.edu	37	chr4	104080281	104080281	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcttatacttttgctcAaagtccatatgaagggtttt	11	16	6	8	0	2	1	1	1	1	0	3	1	3	1	2	1	2	2	2	1	5	7	rs140314436		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:104080281A>C	ENST00000265148.3	-	22	2576	c.2487T>G	c.(2485-2487)ttT>ttG	p.F829L	CENPE_ENST00000380026.3_Missense_Mutation_p.F804L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	829					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTTTTGCTCAAAGTCCATAT	0.348													29	76					0	0	0	0	C	104080281	A	C	104080281	3	2	485	1	0	0	0	0	1	0	0	0	3259	127	5	5	5730	5	CENPE	4	104080281	Missense_Mutation	SNP	A	TCGA-T2-A6X0-01A-11D-A34J-08	47788707	104080281	87073995	24	93437											
PDE4D	5144	broad.mit.edu	37	chr5	59284456	59284456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggggaagctgaatattgCgacatgaaagtctccggaca	13	7	14	7	2	1	2	0	2	1	0	2	6	1	4	1	3	2	1	1	3	4	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr5:59284456C>T	ENST00000502484.2	-	3	354	c.131G>A	c.(130-132)cGc>cAc	p.R44H	PDE4D_ENST00000546160.1_Missense_Mutation_p.R44H	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.R44P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CTGAATATTGCGACATGAAAG	0.483													4	123					0	0	0	0	T	59284456	C	T	59284456	3	4	485	1	0	0	0	0	1	0	0	0	11713	768	27	1	2685	1	PDE4D	5	59284456	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		59284456	121630804	25	93438											
TIMD4	91937	broad.mit.edu	37	chr5	156376739	156376739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactggggaggacagtttctGattctggaagagaaaaaagt	14	9	13	5	0	2	2	0	1	2	1	2	6	2	5	0	4	0	1	0	4	4	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr5:156376739G>A	ENST00000274532.2	-	4	739	c.683C>T	c.(682-684)tCa>tTa	p.S228L	TIMD4_ENST00000407087.3_Missense_Mutation_p.S228L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	228						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACAGTTTCTGATTCTGGAAG	0.418													11	20					0	0	0	0	A	156376739	G	A	156376739	3	1	485	1	0	0	0	0	1	0	0	0	15997	1294	45	2	477	2	TIMD4	5	156376739	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	97092283	156376739	24538521	26	93439											
GPR110	266977	broad.mit.edu	37	chr6	46977492	46977492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgagtacattggcacGtcacgatgtcttgagtttca	10	13	10	8	2	4	2	3	2	1	0	4	3	4	2	0	1	1	3	0	1	2	4	rs144411523		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr6:46977492G>A	ENST00000371253.2	-	11	1894	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.T363M	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	560	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACATTGGCACGTCACGATGTC	0.468													22	55					0	0	0	0	A	46977492	G	A	46977492	3	1	485	1	0	0	0	0	1	0	0	0	6676	1145	40	1	1073	1	GPR110	6	46977492	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08		46977492	124137575	27	93440											
PDE10A	10846	broad.mit.edu	37	chr6	165827146	165827146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcacaggatgttccgcGtggtgtagcctgtgtacaag	8	10	14	9	2	0	0	0	0	0	0	1	1	1	1	2	2	3	5	2	2	3	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr6:165827146G>A	ENST00000366882.1	-	14	1245	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	PDE10A_ENST00000539869.2_Missense_Mutation_p.T374M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T364M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	364	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GATGTTCCGCGTGGTGTAGCC	0.478													11	46					0	0	0	0	A	165827146	G	A	165827146	3	1	485	1	0	0	0	0	1	0	0	0	11701	1145	40	1	1288	1	PDE10A	6	165827146	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	118849654	165827146	5287921	28	93441											
TRRAP	8295	broad.mit.edu	37	chr7	98524941	98524941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgccctgccctttgtcGccagcttgatccgccactat	5	10	8	18	3	0	1	0	1	0	0	2	1	1	1	6	0	3	1	6	0	1	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:98524941G>A	ENST00000359863.4	+	23	3336	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A1042T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1043T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1043					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCTTTGTCGCCAGCTTGAT	0.607													10	39					0	0	0	0	A	98524941	G	A	98524941	3	1	485	1	0	0	0	0	1	0	0	0	16696	1087	38	1	3213	1	TRRAP	7	98524941	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08		98524941	60613722	29	93442											
MUC17	140453	broad.mit.edu	37	chr7	100681342	100681342	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatgccaacctcaactccTagtgaaggaagcactccatt	13	8	7	13	0	1	1	1	1	0	0	3	2	3	2	4	1	5	2	4	1	5	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:100681342T>C	ENST00000306151.4	+	3	6709	c.6645T>C	c.(6643-6645)ccT>ccC	p.P2215P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2215	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCAACTCCTAGTGAAGGAA	0.502													26	651					0	0	0	0	C	100681342	T	C	100681342	2	2	485	1	0	0	0	0	0	0	0	1	10044	1509	53	5		5	MUC17	7	100681342	Silent	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08	2156401	100681342	58457321	30	93443											
ABCB8	11194	broad.mit.edu	37	chr7	150737925	150737925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccagctacccctgcCgccccggcttcgaggtgctg	3	8	10	20	3	0	0	0	0	0	0	3	1	2	0	7	2	4	3	7	2	1	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:150737925C>T	ENST00000358849.4	+	12	1492	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	ABCB8_ENST00000297504.6_Missense_Mutation_p.R484C|ABCB8_ENST00000542328.1_Missense_Mutation_p.R379C|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.R467C	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	484						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTACCCCTGCCGCCCCGGCTT	0.672													5	9					0	0	0	0	T	150737925	C	T	150737925	3	4	485	1	0	0	0	0	1	0	0	0	47	652	23	1	1445	1	ABCB8	7	150737925	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	50056583	150737925	8400738	31	93444											
FAM135B	51059	broad.mit.edu	37	chr8	139163803	139163803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcctccgggaaggcattcActcctctattaaatgctgtg	9	12	9	11	1	2	0	1	0	1	0	4	1	4	1	3	2	2	2	3	2	5	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr8:139163803A>G	ENST00000395297.1	-	13	3085	c.2915T>C	c.(2914-2916)gTg>gCg	p.V972A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	972										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)			GAAGGCATTCACTCCTCTATT	0.493										HNSCC(54;0.14)			55	97					0	0	0	0	G	139163803	A	G	139163803	3	3	485	1	0	0	0	0	1	0	0	0	5490	159	6	5	1337	5	FAM135B	8	139163803	Missense_Mutation	SNP	A	TCGA-T2-A6X0-01A-11D-A34J-08		139163803	7200219	32	93445											
DNAJA1	3301	broad.mit.edu	37	chr9	33036573	33036573	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcatattttatgcagaCgaggagaagaccttttcatg	11	14	10	6	1	2	3	2	0	0	3	2	5	2	3	1	1	1	1	1	1	3	5			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:33036573C>T	ENST00000330899.4	+	7	943	c.758_splice	c.e7-1	p.R254_splice	DNAJA1_ENST00000544625.1_Splice_Site_p.R97_splice|DNAJA1_ENST00000495015.1_3'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	254					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTTATGCAGACGAGGAGAAGA	0.378													9	42					0	0	0	0	T	33036573	C	T	33036573	5	4	485	1	0	0	0	0	0	0	1	0	4647	550	19	1	782	1	DNAJA1	9	33036573	Splice_Site	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		33036573	108176858	33	93446											
ZBTB5	9925	broad.mit.edu	37	chr9	37440997	37440999	+	In_Frame_Del	DEL	AGA	AGA	-																															ggaacctatcattaccctggAgaaggaggagtggaggccca																								rs41278303		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:37440997_37440999delAGA	ENST00000307750.4	-	2	1738_1740	c.1550_1552delTCT	c.(1549-1554)tcc>t	p.FS517del		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ATTACCCTGGAGAAGGAGGAGTG	0.547													12	26	---	---	---	---					-	37440999	AGA	-	37440997	7	5	485	1	0	1	0	1	0	0	0	0	17646	304	11	0	485	0	ZBTB5	9	37440997	In_Frame_Del	DEL	AGA	TCGA-T2-A6X0-01A-11D-A34J-08	4404424	37440997	103772434	34	93447											
PHF19	26147	broad.mit.edu	37	chr9	123620499	123620499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagctcagctgcccacCgctttgcccgcaggggcatg	6	7	11	17	2	1	0	1	0	0	0	2	0	2	0	4	2	4	5	4	2	0	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:123620499C>T	ENST00000373896.3	-	15	1718	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q	PHF19_ENST00000419155.1_Missense_Mutation_p.R280Q|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCTGCCCACCGCTTTGCCCG	0.597													12	44					0	0	0	0	T	123620499	C	T	123620499	3	4	485	1	0	0	0	0	1	0	0	0	11901	652	23	1	280	1	PHF19	9	123620499	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	86179502	123620499	17592932	35	93448											
GPR107	57720	broad.mit.edu	37	chr9	132889813	132889813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatttctcctcaaactcGctgttccattccagtggaag	8	14	7	12	1	2	0	1	0	1	0	6	1	4	1	3	1	2	3	3	1	2	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:132889813G>A	ENST00000372406.1	+	18	2059	c.1552G>A	c.(1552-1554)Gct>Act	p.A518T	GPR107_ENST00000372410.3_Missense_Mutation_p.A489T|GPR107_ENST00000347136.6_Missense_Mutation_p.A470T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	518						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CCTCAAACTCGCTGTTCCATT	0.418													4	71					0	0	0	0	A	132889813	G	A	132889813	3	1	485	1	0	0	0	0	1	0	0	0	6672	1087	38	1	1622	1	GPR107	9	132889813	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	9269314	132889813	8323618	36	93449											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			43	44					0	0	0	0	T	89692904	C	T	89692904	4	4	485	1	0	0	0	0	0	1	0	0	12817	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		89692904	45841843	37	93450											
MUC5B	727897	broad.mit.edu	37	chr11	1272721	1272721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaccgcctcctccactCtgggaacagctcacaccccc	7	5	7	22	2	2	0	1	0	1	0	4	1	4	1	7	2	2	1	7	2	1	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:1272721C>A	ENST00000447027.1	+	31	14678	c.14620C>A	c.(14620-14622)Ctg>Atg	p.L4874M	MUC5B_ENST00000529681.1_Missense_Mutation_p.L4871M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4871	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCTGGGAACAGC	0.657													4	95					1	1	1	0	A	1272721	C	A	1272721	3	1	485	1	0	0	0	0	1	0	0	0	10049	912	32	2	14742	2	MUC5B	11	1272721	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		1272721	133733795	38	93451											
RIC3	79608	broad.mit.edu	37	chr11	8132425	8132425	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagacagcaggatcctcGtcttcatgaaaacagcagga	14	6	10	11	1	2	2	1	1	1	1	4	4	3	4	2	2	3	2	2	2	3	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:8132425G>A	ENST00000396677.2	-	3	443	c.444C>T	c.(442-444)gaC>gaT	p.D148D	RIC3_ENST00000539720.1_Silent_p.D261D|RIC3_ENST00000425599.2_Silent_p.D229D|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Silent_p.D128D|RIC3_ENST00000309737.6_Silent_p.D310D|RIC3_ENST00000343202.4_Silent_p.D309D			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	310						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGGATCCTCGTCTTCATGAA	0.488													55	81					0	0	0	0	A	8132425	G	A	8132425	2	1	485	1	0	0	0	0	0	0	0	1	13437	1136	40	1		1	RIC3	11	8132425	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	6859704	8132425	126874091	39	93452											
PYGM	5837	broad.mit.edu	37	chr11	64514211	64514211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcatactgggcaatggTgcggtcactggagaacttgc	8	8	15	10	2	1	1	1	0	0	1	1	2	1	1	1	5	4	2	1	5	3	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:64514211T>C	ENST00000164139.3	-	20	2847	c.2449A>G	c.(2449-2451)Acc>Gcc	p.T817A	PYGM_ENST00000377432.3_Missense_Mutation_p.T729A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	817					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGGGCAATGGTGCGGTCACTG	0.617													24	44					0	0	0	0	C	64514211	T	C	64514211	3	2	485	1	0	0	0	0	1	0	0	0	12944	1696	59	5	83	5	PYGM	11	64514211	Missense_Mutation	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08	56381786	64514211	70492305	40	93453											
SF3B2	10992	broad.mit.edu	37	chr11	65827389	65827389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagcgcaaatacctgcaggGcaaacggggcattgagaagc	14	5	13	9	2	0	1	0	1	0	1	0	2	0	1	1	3	5	4	1	3	5	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:65827389G>A	ENST00000528302.1	+	12	1541	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	SF3B2_ENST00000322535.6_Missense_Mutation_p.G513D			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	513					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TACCTGCAGGGCAAACGGGGC	0.592													4	104					0	0	0	0	A	65827389	G	A	65827389	3	1	485	1	0	0	0	0	1	0	0	0	14238	1203	42	4	1588	4	SF3B2	11	65827389	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	1313178	65827389	69179127	41	93454											
FAT3	120114	broad.mit.edu	37	chr11	92577212	92577212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggaaattttcattgtcaCcatggaggatgactttcctg	9	14	9	9	0	2	1	2	1	0	0	3	4	3	4	3	3	0	0	3	3	1	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:92577212C>A	ENST00000298047.6	+	18	10696	c.10679C>A	c.(10678-10680)aCc>aAc	p.T3560N	FAT3_ENST00000409404.2_Missense_Mutation_p.T3560N|FAT3_ENST00000525166.1_Missense_Mutation_p.T3410N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3560	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCATTGTCACCATGGAGGAT	0.493										TCGA Ovarian(4;0.039)			70	69					2.165e-29	2.50006e-29	1	0	A	92577212	C	A	92577212	3	1	485	1	0	0	0	0	1	0	0	0	5736	507	18	4	10749	4	FAT3	11	92577212	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	26749823	92577212	42429304	42	93455											
MMP1	4312	broad.mit.edu	37	chr11	102661499	102661499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtcatgtgctatcattttgGgataacctggatccatagat	11	14	9	7	0	2	1	2	0	0	1	3	3	3	3	2	2	2	1	2	2	3	5			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:102661499G>T	ENST00000315274.6	-	9	1302	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	412	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TATCATTTTGGGATAACCTGG	0.363													40	35					6.45866e-13	7.20103e-13	1	0	T	102661499	G	T	102661499	3	4	485	1	0	0	0	0	1	0	0	0	9717	1232	43	4	182	4	MMP1	11	102661499	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	10084287	102661499	32345017	43	93456											
LRRK2	120892	broad.mit.edu	37	chr12	40631814	40631814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaagaaagtgatattttCatgttaatttttgatgccat	13	17	8	3	0	1	4	1	3	0	1	1	5	1	4	1	0	1	1	1	0	4	6			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:40631814C>T	ENST00000298910.7	+	5	538	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LRRK2_ENST00000343742.2_Silent_p.F160F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	160					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGATATTTTCATGTTAATTT	0.333													19	60					0	0	0	0	T	40631814	C	T	40631814	2	4	485	1	0	0	0	0	0	0	0	1	9097	825	29	2		2	LRRK2	12	40631814	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		40631814	93220081	44	93457											
SCYL2	55681	broad.mit.edu	37	chr12	100732394	100732394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaatcttctgcttcaagtaCtttcacttctgttccttcca	8	18	3	12	0	5	0	2	0	3	0	7	0	7	0	2	0	2	3	2	0	4	8			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:100732394C>G	ENST00000360820.2	+	18	2671	c.2234C>G	c.(2233-2235)aCt>aGt	p.T745S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	745	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GCTTCAAGTACTTTCACTTCT	0.388													16	105					0	0	0	0	G	100732394	C	G	100732394	3	3	485	1	0	0	0	0	1	0	0	0	14035	565	20	4	2300	4	SCYL2	12	100732394	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	60100580	100732394	33119501	45	93458											
SLC17A8	246213	broad.mit.edu	37	chr12	100774587	100774587	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcgactgccactgctgCggcctccccaagcgttacat	6	9	9	17	3	1	0	0	0	1	0	2	1	2	0	4	1	6	2	4	1	2	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:100774587C>T	ENST00000323346.5	+	2	523	c.210C>T	c.(208-210)tgC>tgT	p.C70C	SLC17A8_ENST00000392989.3_Silent_p.C70C	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	70					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GCCACTGCTGCGGCCTCCCCA	0.537													4	127					0	0	0	0	T	100774587	C	T	100774587	2	4	485	1	0	0	0	0	0	0	0	1	14511	776	27	1		1	SLC17A8	12	100774587	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	42193	100774587	33077308	46	93459											
CIT	11113	broad.mit.edu	37	chr12	120128245	120128245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttgtacgtgggtgggcctCgcttgttggggctgctggcg	1	12	19	9	4	0	0	0	0	0	0	1	0	0	0	1	5	2	6	1	5	1	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:120128245C>T	ENST00000392521.2	-	47	5952	c.5897G>A	c.(5896-5898)cGa>cAa	p.R1966Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1924Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1924					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGTGGGCCTCGCTTGTTGGG	0.657													3	14					0	0	0	0	T	120128245	C	T	120128245	3	4	485	1	0	0	0	0	1	0	0	0	3468	884	31	1	320	1	CIT	12	120128245	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	19353658	120128245	13723650	47	93460											
BRCA2	675	broad.mit.edu	37	chr13	32972303	32972303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatttttttatcagatgtCttctcctaattgtgagatat	9	21	5	6	0	4	2	2	1	2	2	5	3	4	2	1	0	0	0	1	0	3	9			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:32972303C>T	ENST00000544455.1	+	27	9880	c.9653C>T	c.(9652-9654)tCt>tTt	p.S3218F	BRCA2_ENST00000380152.3_Missense_Mutation_p.S3218F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3218					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATCAGATGTCTTCTCCTAAT	0.318			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	147					0	0	0	0	T	32972303	C	T	32972303	3	4	485	1	0	0	0	0	1	0	0	0	1507	913	32	2	9755	2	BRCA2	13	32972303	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		32972303	82197575	48	93461											
SMAD9	4093	broad.mit.edu	37	chr13	37453769	37453769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccagcctagcagtcTcttcactgcggggctggtga	5	12	12	12	1	2	1	1	1	1	0	4	1	3	1	2	3	4	3	2	3	1	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:37453769T>C	ENST00000379826.4	-	2	400	c.58A>G	c.(58-60)Aga>Gga	p.R20G	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000399275.2_Missense_Mutation_p.R20G|SMAD9_ENST00000350148.5_Missense_Mutation_p.R20G	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	20	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CCTAGCAGTCTCTTCACTGCG	0.572													25	22					0	0	0	0	C	37453769	T	C	37453769	3	2	485	1	0	0	0	0	1	0	0	0	14852	1559	54	5	1369	5	SMAD9	13	37453769	Missense_Mutation	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08	4481466	37453769	77716109	49	93462											
PCDH9	5101	broad.mit.edu	37	chr13	67802212	67802212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcagcctgaagaaatCattggggaggatcaccacct	12	10	10	9	0	3	3	3	2	0	1	3	5	3	5	3	3	1	0	3	3	2	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:67802212C>A	ENST00000544246.1	-	2	1052	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	PCDH9_ENST00000328454.5_Missense_Mutation_p.D121Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.D121Y|PCDH9_ENST00000377861.3_Missense_Mutation_p.D121Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.D121Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	121	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGAAGAAATCATTGGGGAGG	0.403													5	67					0.014758	0.0150687	1	0	A	67802212	C	A	67802212	3	1	485	1	0	0	0	0	1	0	0	0	11589	826	29	2	3368	2	PCDH9	13	67802212	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	30348443	67802212	47367666	50	93463											
KCNK10	54207	broad.mit.edu	37	chr14	88658749	88658749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttggtctgactcacttgCtttttctaggaagagcaaag	10	14	9	8	0	4	2	1	1	3	1	4	3	4	3	0	2	2	2	0	2	3	5			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr14:88658749C>T	ENST00000340700.5	-	5	1123	c.672G>A	c.(670-672)aaG>aaA	p.K224K	KCNK10_ENST00000319231.5_Silent_p.K229K|KCNK10_ENST00000312350.5_Silent_p.K229K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	224					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GACTCACTTGCTTTTTCTAGG	0.468													19	45					0	0	0	0	T	88658749	C	T	88658749	2	4	485	1	0	0	0	0	0	0	0	1	8112	796	28	4		4	KCNK10	14	88658749	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		88658749	18690791	51	93464											
SPATA7	55812	broad.mit.edu	37	chr14	88892837	88892837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacattcccaaattcccacCggtttcagttagtcatttcg	9	13	6	13	2	2	0	2	0	0	0	5	0	4	0	3	1	0	3	3	1	2	5			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr14:88892837C>T	ENST00000556553.1	+	6	1097	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SPATA7_ENST00000356583.5_Missense_Mutation_p.R180W|SPATA7_ENST00000045347.7_Missense_Mutation_p.R212W|SPATA7_ENST00000393545.4_Missense_Mutation_p.R212W			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	212					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAATTCCCACCGGTTTCAGTT	0.502													26	73					0	0	0	0	T	88892837	C	T	88892837	3	4	485	1	0	0	0	0	1	0	0	0	15104	643	23	1	656	1	SPATA7	14	88892837	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	234088	88892837	18456703	52	93465											
PPIP5K1	9677	broad.mit.edu	37	chr15	43873475	43873475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttccatggcagtcaGcatgactggatatcgaatct	10	12	9	10	1	2	1	1	1	1	0	4	3	3	2	1	2	2	3	1	2	2	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr15:43873475G>T	ENST00000420765.1	-	9	1071	c.889C>A	c.(889-891)Ctg>Atg	p.L297M	PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L297M|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L297M|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L297M	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	297					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						ATGGCAGTCAGCATGACTGGA	0.507													5	209					0.014758	0.0150687	1	0	T	43873475	G	T	43873475	3	4	485	1	0	0	0	0	1	0	0	0	12408	962	34	4	3628	4	PPIP5K1	15	43873475	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08		43873475	58657917	53	93466											
CASKIN1	57524	broad.mit.edu	37	chr16	2228601	2228601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgtcgaacatgctgcCgatgtcgtccaggatgctgc	7	9	13	12	4	0	0	0	0	0	0	4	3	1	1	2	2	5	2	2	2	1	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:2228601C>T	ENST00000343516.6	-	20	4338	c.4246G>A	c.(4246-4248)Ggc>Agc	p.G1416S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1416					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AACATGCTGCCGATGTCGTCC	0.741													14	27					0	0	0	0	T	2228601	C	T	2228601	3	4	485	1	0	0	0	0	1	0	0	0	2691	652	23	1	53	1	CASKIN1	16	2228601	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		2228601	88126152	54	93467											
KATNB1	10300	broad.mit.edu	37	chr16	57775607	57775607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgtgtagaagagatcGtcgcgcatgccagcaacgtg	9	9	12	11	4	0	2	0	0	0	2	3	3	1	2	2	0	3	3	2	0	3	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:57775607G>A	ENST00000379661.3	+	3	441	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	17	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGAAGAGATCGTCGCGCATGC	0.647													4	58					0	0	0	0	A	57775607	G	A	57775607	3	1	485	1	0	0	0	0	1	0	0	0	8040	1145	40	1	55	1	KATNB1	16	57775607	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	55547006	57775607	32579146	55	93468											
PKD1L2	114780	broad.mit.edu	37	chr16	81236230	81236230	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtctccatcttgtctcGcacggtcacctgcctctgag	5	11	10	15	3	5	1	1	1	4	0	7	2	5	1	3	1	2	1	3	1	0	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:81236230G>A	ENST00000599697.1	-	6	1017	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	340					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCTTGTCTCGCACGGTCACC	0.577													26	47					0	0	0	0	A	81236230	G	A	81236230	4	1	485	1	0	0	0	0	0	1	0	0	12037	1095	38	1	6582	1	PKD1L2	16	81236230	Nonsense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	23460623	81236230	9118523	56	93469											
HOXB3	3213	broad.mit.edu	37	chr17	46628230	46628230	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgggccccccgacgaCgaggccaatcccttggcctt	7	6	13	15	3	0	1	0	0	0	1	1	5	1	1	6	4	0	0	6	4	1	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr17:46628230C>T	ENST00000470495.1	-	2	2209	c.762G>A	c.(760-762)tcG>tcA	p.S254S	HOXB3_ENST00000485909.2_Silent_p.S122S|HOXB3_ENST00000489475.1_Silent_p.S181S|HOXB3_ENST00000311626.4_Silent_p.S254S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Silent_p.S120S|HOXB3_ENST00000498678.1_Silent_p.S254S|HOXB3_ENST00000472863.1_Silent_p.S181S|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Silent_p.S254S|HOXB3_ENST00000460160.1_Silent_p.S122S			P14651	HXB3_HUMAN	homeobox B3	254					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCCCCGACGACGAGGCCAATC	0.627											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	129					0	0	0	0	T	46628230	C	T	46628230	2	4	485	1	0	0	0	0	0	0	0	1	7352	523	19	1		1	HOXB3	17	46628230	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		46628230	34566980	57	93470											
USH1G	124590	broad.mit.edu	37	chr17	72915940	72915940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagacccccatcctcgcGgcccagtccgtgcagcccac	7	5	8	21	3	0	1	0	0	0	1	4	1	3	1	7	1	2	1	7	1	0	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr17:72915940G>A	ENST00000319642.1	-	2	1173	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	331					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCATCCTCGCGGCCCAGTCCG	0.677													40	100					0	0	0	0	A	72915940	G	A	72915940	3	1	485	1	0	0	0	0	1	0	0	0	17131	1116	39	1	402	1	USH1G	17	72915940	Missense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	26287710	72915940	8279270	58	93471											
CDH2	1000	broad.mit.edu	37	chr18	25572701	25572701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggatctccgccactgattCtgtacactgcgttccaggct	7	12	9	13	2	2	1	0	1	2	0	4	2	3	2	3	2	2	3	3	2	2	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:25572701C>T	ENST00000269141.3	-	9	1685	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	CDH2_ENST00000399380.3_Missense_Mutation_p.R390K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	421	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.R421T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCACTGATTCTGTACACTGC	0.517													45	97					0	0	0	0	T	25572701	C	T	25572701	3	4	485	1	0	0	0	0	1	0	0	0	3134	913	32	2	1490	2	CDH2	18	25572701	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08		25572701	52504547	59	93472											
ASXL3	80816	broad.mit.edu	37	chr18	31319923	31319923	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagccctaccctgcttcaaTtccagaacttgcttctactg	9	12	6	14	0	2	1	1	0	1	1	3	2	3	1	3	0	6	2	3	0	5	6			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:31319923T>G	ENST00000269197.5	+	11	2555	c.2555T>G	c.(2554-2556)aTt>aGt	p.I852S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGCTTCAATTCCAGAACTT	0.398													12	44					0	0	0	0	G	31319923	T	G	31319923	3	3	485	1	0	0	0	0	1	0	0	0	1072	1493	52	5	2597	5	ASXL3	18	31319923	Missense_Mutation	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08	5747222	31319923	46757325	60	93473											
DOK6	220164	broad.mit.edu	37	chr18	67231825	67231825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttatttcagaaactttCataaggtaagtcacagtcct	13	13	6	9	0	3	1	3	0	0	1	4	1	4	1	1	1	2	2	1	1	4	5			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:67231825C>A	ENST00000382713.5	+	2	359	c.169C>A	c.(169-171)Cat>Aat	p.H57N	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	57	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGAAACTTTCATAAGGTAAG	0.408													20	44					2.37509e-13	2.67888e-13	1	0	A	67231825	C	A	67231825	3	1	485	1	0	0	0	0	1	0	0	0	4737	826	29	2	175	2	DOK6	18	67231825	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	35911902	67231825	10845423	61	93474											
HNRNPM	4670	broad.mit.edu	37	chr19	8550898	8550898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcgcatgggcctgagcaTggagcgcatggtgcccgcag	7	5	17	12	4	0	1	0	1	0	0	0	3	0	2	2	3	4	4	2	3	0	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:8550898T>C	ENST00000348943.3	+	15	1701	c.1469T>C	c.(1468-1470)aTg>aCg	p.M490T	HNRNPM_ENST00000325495.4_Missense_Mutation_p.M529T	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	529	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGCCTGAGCATGGAGCGCATG	0.687													53	57					0	0	0	0	C	8550898	T	C	8550898	3	2	485	1	0	0	0	0	1	0	0	0	7321	1464	51	5	1640	5	HNRNPM	19	8550898	Missense_Mutation	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08		8550898	50578085	62	93475											
ZNF763	284390	broad.mit.edu	37	chr19	12088965	12088965	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtcaatgaaattaaaGaagacagtcattgtggagaa	18	9	11	3	0	2	4	2	1	0	3	2	6	2	5	0	2	0	0	0	2	7	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:12088965G>T	ENST00000343949.5	+	4	390	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000591944.1_3'UTR|ZNF763_ENST00000538752.1_Nonsense_Mutation_p.E96*|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000358987.3_Nonsense_Mutation_p.E76*|ZNF763_ENST00000590798.1_Nonsense_Mutation_p.E96*	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGAAATTAAAGAAGACAGTCA	0.373													60	131					8.3131e-28	9.48671e-28	1	0	T	12088965	G	T	12088965	4	4	485	1	0	0	0	0	0	1	0	0	18231	943	33	2	249	2	ZNF763	19	12088965	Nonsense_Mutation	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	3538067	12088965	47040018	63	93476											
NOTCH3	4854	broad.mit.edu	37	chr19	15276813	15276813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtcggagatgatgctagCtgatgtgtcatctgcctcat	8	12	12	9	1	3	3	2	2	1	1	4	4	3	3	1	2	3	2	1	2	1	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:15276813C>T	ENST00000263388.2	-	30	5527	c.5452G>A	c.(5452-5454)Gct>Act	p.A1818T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1818					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATGATGCTAGCTGATGTGTCA	0.602													17	40					0	0	0	0	T	15276813	C	T	15276813	3	4	485	1	0	0	0	0	1	0	0	0	10620	797	28	4	1529	4	NOTCH3	19	15276813	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	3187848	15276813	43852170	64	93477											
CYP4F2	8529	broad.mit.edu	37	chr19	15997110	15997110	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagataacttcttcccGtcttcatcctggagagaagg	10	12	8	11	1	5	2	3	0	2	2	7	4	7	3	2	2	1	0	2	2	2	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:15997110G>A	ENST00000221700.5	-	8	1022	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Silent_p.D309D	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	309					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACTTCTTCCCGTCTTCATCCT	0.532													5	213					0	0	0	0	A	15997110	G	A	15997110	2	1	485	1	0	0	0	0	0	0	0	1	4220	1136	40	1		1	CYP4F2	19	15997110	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	720297	15997110	43131873	65	93478											
KIAA1683	80726	broad.mit.edu	37	chr19	18368502	18368502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggtcagacatgaccccggCccggctgcccagctccaccc	6	5	10	20	3	1	2	1	1	0	1	3	2	2	2	6	3	2	2	6	3	0	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:18368502C>G	ENST00000392413.3	-	4	3807	c.3592G>C	c.(3592-3594)Gcc>Ccc	p.A1198P	KIAA1683_ENST00000600328.2_Missense_Mutation_p.A1011P|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A965P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGACCCCGGCCCGGCTGCCC	0.667													27	73					0	0	0	0	G	18368502	C	G	18368502	3	3	485	1	0	0	0	0	1	0	0	0	8302	739	26	4	515	4	KIAA1683	19	18368502	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	2371392	18368502	40760481	66	93479											
BCKDHA	593	broad.mit.edu	37	chr19	41929045	41929045	+	Frame_Shift_Del	DEL	A	A	-																															ggtgggatgaggagcaggagAaggcctggaggaagcagtcc																										TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:41929045delA	ENST00000269980.2	+	8	1506	c.1138delA	c.(1138-1140)agfs	p.K380fs	BCKDHA_ENST00000457836.2_Frame_Shift_Del_p.K383fs|CTC-435M10.3_ENST00000540732.1_Frame_Shift_Del_p.K414fs|BCKDHA_ENST00000595085.1_Frame_Shift_Del_p.K414fs	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	380					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGAGCAGGAGAAGGCCTGGAG	0.637													2	4	---	---	---	---					-	41929045	A	-	41929045	7	5	485	1	0	1	0	1	0	0	0	0	1363	247	9	0	1168	0	BCKDHA	19	41929045	Frame_Shift_Del	DEL	A	TCGA-T2-A6X0-01A-11D-A34J-08	23560543	41929045	17199938	67	93480											
SCAF1	58506	broad.mit.edu	37	chr19	50154615	50154615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagagcccccgcccggaCgcgcagcccacacagccgac	9	0	12	20	6	0	1	0	0	0	1	0	5	0	2	5	1	3	1	5	1	0	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:50154615C>T	ENST00000360565.3	+	7	1093	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	323					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCGCCCGGACGCGCAGCCCA	0.697													13	14					0	0	0	0	T	50154615	C	T	50154615	2	4	485	1	0	0	0	0	0	0	0	1	13954	535	19	1		1	SCAF1	19	50154615	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	8225570	50154615	8974368	68	93481											
PNKP	11284	broad.mit.edu	37	chr19	50365330	50365330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatatccggccgacaCgaggtgcttcttgagaaagg	10	8	14	9	3	1	1	0	1	1	1	2	5	2	2	2	4	1	1	2	4	2	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:50365330C>T	ENST00000322344.3	-	13	1268	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	PNKP_ENST00000596014.1_Missense_Mutation_p.V387M|PNKP_ENST00000600910.1_Missense_Mutation_p.V387M|PNKP_ENST00000600573.1_Missense_Mutation_p.V356M	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	387					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCGGCCGACACGAGGTGCTTC	0.597								Other BER factors					12	52					0	0	0	0	T	50365330	C	T	50365330	3	4	485	1	0	0	0	0	1	0	0	0	12219	536	19	1	426	1	PNKP	19	50365330	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	210715	50365330	8763653	69	93482											
NLRP8	126205	broad.mit.edu	37	chr19	56473487	56473487	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagacttatgctctgtgttTgcaacgaatgataagctgga	12	12	10	7	1	1	2	0	1	1	1	1	4	1	3	0	1	4	4	0	1	5	3			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:56473487T>C	ENST00000291971.3	+	4	2168	c.2097T>C	c.(2095-2097)ttT>ttC	p.F699F	NLRP8_ENST00000590542.1_Silent_p.F699F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	699						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTCTGTGTTTGCAACGAATG	0.512													42	106					0	0	0	0	C	56473487	T	C	56473487	2	2	485	1	0	0	0	0	0	0	0	1	10553	1809	63	5		5	NLRP8	19	56473487	Silent	SNP	T	TCGA-T2-A6X0-01A-11D-A34J-08	6108157	56473487	2655496	70	93483											
DLGAP4	22839	broad.mit.edu	37	chr20	35075162	35075162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagcctgcagtgaagcGgagtccacagcggcagagac	11	4	15	11	2	1	2	1	1	0	1	2	5	2	3	2	2	4	2	2	2	1	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:35075162G>A	ENST00000373913.3	+	7	1950	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	DLGAP4_ENST00000339266.5_Silent_p.A490A|DLGAP4_ENST00000373907.2_Silent_p.A490A|DLGAP4_ENST00000401952.2_Silent_p.A490A			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	490					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAGTGAAGCGGAGTCCACAG	0.642													10	16					0	0	0	0	A	35075162	G	A	35075162	2	1	485	1	0	0	0	0	0	0	0	1	4599	1103	39	1		1	DLGAP4	20	35075162	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08		35075162	27950358	71	93484											
KIAA1755	85449	broad.mit.edu	37	chr20	36850871	36850871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatcagggctgaagtcCagcctgctggcatcatgctg	8	9	12	12	0	2	2	2	2	0	0	3	2	3	2	2	2	3	4	2	2	1	0			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:36850871C>T	ENST00000279024.4	-	10	2668	c.2397G>A	c.(2395-2397)ctG>ctA	p.L799L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	799										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGAAGTCCAGCCTGCTGG	0.637											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	62					0	0	0	0	T	36850871	C	T	36850871	2	4	485	1	0	0	0	0	0	0	0	1	8308	581	21	4		4	KIAA1755	20	36850871	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	1775709	36850871	26174649	72	93485											
PKIG	11142	broad.mit.edu	37	chr20	43246999	43246999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgatgggaccacctcGtcttgaatctgaccttgtcc	8	10	10	13	2	2	2	0	2	2	0	4	4	3	3	4	1	2	1	4	1	1	2			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:43246999G>A	ENST00000372889.1	+	6	810	c.225G>A	c.(223-225)tcG>tcA	p.S75S	PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372892.3_Silent_p.S75S|PKIG_ENST00000372891.3_Silent_p.S75S|PKIG_ENST00000372886.1_Silent_p.S75S|PKIG_ENST00000349959.3_Silent_p.S75S|PKIG_ENST00000372887.1_Intron|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372894.3_Silent_p.S75S			Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	75							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			GGACCACCTCGTCTTGAATCT	0.592													40	80					0	0	0	0	A	43246999	G	A	43246999	2	1	485	1	0	0	0	0	0	0	0	1	12047	1132	40	1		1	PKIG	20	43246999	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08	6396128	43246999	19778521	73	93486											
TP53TG5	27296	broad.mit.edu	37	chr20	44003749	44003749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcggcgcttgacccaaCgcagggtggaggatctgcac	8	6	15	12	3	1	1	0	1	1	0	1	3	1	3	1	4	4	4	1	4	1	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:44003749C>T	ENST00000372726.3	-	4	854	c.698G>A	c.(697-699)cGt>cAt	p.R233H	TP53TG5_ENST00000537995.1_Missense_Mutation_p.R217H|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	233					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTTGACCCAACGCAGGGTGGA	0.597													28	52					0	0	0	0	T	44003749	C	T	44003749	3	4	485	1	0	0	0	0	1	0	0	0	16486	536	19	1	182	1	TP53TG5	20	44003749	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	756750	44003749	19021771	74	93487											
UCKL1	54963	broad.mit.edu	37	chr20	62577277	62577277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaaaggcatctgggtggtCgaagttgaagttgttgtgtg	8	13	16	4	1	2	1	1	1	1	0	3	2	2	1	0	3	0	4	0	3	3	3	rs138746686		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:62577277C>T	ENST00000369908.5	-	4	717	c.418G>A	c.(418-420)Gac>Aac	p.D140N	UCKL1_ENST00000358711.3_Missense_Mutation_p.D155N|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000354216.6_Missense_Mutation_p.D155N|UCKL1_ENST00000369892.3_Missense_Mutation_p.D155N	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	155					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTGGGTGGTCGAAGTTGAAG	0.567													64	119					0	0	0	0	T	62577277	C	T	62577277	3	4	485	1	0	0	0	0	1	0	0	0	17021	884	31	1	1231	1	UCKL1	20	62577277	Missense_Mutation	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	18573528	62577277	448243	75	93488											
CELSR1	9620	broad.mit.edu	37	chr22	46859707	46859707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtcgatctccgtctcGcagtagtcgccggtgaagcc	7	8	13	13	5	2	2	0	1	2	1	6	3	2	2	3	2	1	2	3	2	2	1			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr22:46859707G>A	ENST00000262738.3	-	2	4079	c.4080C>T	c.(4078-4080)tgC>tgT	p.C1360C	CELSR1_ENST00000395964.1_Silent_p.C1360C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1360	EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCCGTCTCGCAGTAGTCGC	0.706													9	11					0	0	0	0	A	46859707	G	A	46859707	2	1	485	1	0	0	0	0	0	0	0	1	3250	1079	38	1		1	CELSR1	22	46859707	Silent	SNP	G	TCGA-T2-A6X0-01A-11D-A34J-08		46859707	4444859	76	93489											
MAPK12	6300	broad.mit.edu	37	chr22	50693901	50693901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagagggcttgcattggtCaggatagaggcaaaatcctt	11	9	12	9	0	1	2	1	0	0	2	2	3	2	3	2	4	1	3	2	4	3	4			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr22:50693901C>T	ENST00000215659.8	-	10	1146	c.831G>A	c.(829-831)ctG>ctA	p.L277L	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Silent_p.L187L	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	277	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTGCATTGGTCAGGATAGAGG	0.612													28	70					0	0	0	0	T	50693901	C	T	50693901	2	4	485	1	0	0	0	0	0	0	0	1	9343	813	29	2		2	MAPK12	22	50693901	Silent	SNP	C	TCGA-T2-A6X0-01A-11D-A34J-08	3834194	50693901	610665	77	93490											
DVL1	1855	broad.mit.edu	37	chr1	1275804	1275804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctacccggtccgcctgccGaaggcgctgcttcctccgcc	3	7	11	20	5	0	0	0	0	0	0	3	1	3	0	8	2	3	2	8	2	2	2	rs144365982	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1275804G>A	ENST00000378888.5	-	6	969	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	DVL1_ENST00000378891.5_Missense_Mutation_p.R229W			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	229					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCGCCTGCCGAAGGCGCTGC	0.677													7	14					0	0	0	0	A	1275804	G	A	1275804	3	1	486	1	0	0	0	0	1	0	0	0	4871	1057	37	1	1367	1	DVL1	1	1275804	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		1275804	247974817	1	93491											
ATAD3B	83858	broad.mit.edu	37	chr1	1421169	1421169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctccggcaggtcagccGgcggctcctcagtcgacccc	4	6	11	20	4	2	0	2	0	0	0	6	1	5	0	7	4	1	2	7	4	0	0	rs138300243		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1421169G>A	ENST00000308647.7	+	9	1030	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	305							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAGGTCAGCCGGCGGCTCCTC	0.647													27	61					0	0	0	0	A	1421169	G	A	1421169	3	1	486	1	0	0	0	0	1	0	0	0	1078	1116	39	1	948	1	ATAD3B	1	1421169	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	145365	1421169	247829452	2	93492											
NADK	65220	broad.mit.edu	37	chr1	1687999	1687999	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttcatcgctggcgaTggcagggtcttctagcactt	8	12	11	10	2	3	0	1	0	2	0	4	1	3	0	0	3	2	4	0	3	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1687999T>A	ENST00000344463.4	-	7	1098	c.877A>T	c.(877-879)Atc>Ttc	p.I293F	NADK_ENST00000341426.5_Missense_Mutation_p.I148F|NADK_ENST00000342348.5_Missense_Mutation_p.I116F|NADK_ENST00000341991.3_Missense_Mutation_p.I148F|NADK_ENST00000378625.1_Missense_Mutation_p.I293F			O95544	NADK_HUMAN	NAD kinase	148					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TCGCTGGCGATGGCAGGGTCT	0.517													30	63					0	0	0	0	A	1687999	T	A	1687999	3	1	486	1	0	0	0	0	1	0	0	0	10207	1464	51	5	930	5	NADK	1	1687999	Missense_Mutation	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	266830	1687999	247562622	3	93493											
ERRFI1	54206	broad.mit.edu	37	chr1	8074116	8074116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtgtagagtcttctaaaagGaagtctgtatctgagctagt	12	13	11	5	0	4	2	0	1	4	1	4	3	4	3	0	1	1	3	0	1	6	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:8074116G>A	ENST00000377482.5	-	4	766	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	181					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCTAAAAGGAAGTCTGTAT	0.463													25	72					0	0	0	0	A	8074116	G	A	8074116	2	1	486	1	0	0	0	0	0	0	0	1	5282	1165	41	2		2	ERRFI1	1	8074116	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	6386117	8074116	241176505	4	93494											
EXOSC10	5394	broad.mit.edu	37	chr1	11126794	11126794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actatctctgtggccagttgTacctgaagcctctgcagaga	9	11	10	11	0	2	2	0	1	2	1	3	3	2	2	3	1	3	3	3	1	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:11126794T>C	ENST00000376936.4	-	25	2688	c.2639A>G	c.(2638-2640)tAc>tGc	p.Y880C	EXOSC10_ENST00000304457.7_Missense_Mutation_p.Y855C|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	880					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGGCCAGTTGTACCTGAAGCC	0.443													38	78					0	0	0	0	C	11126794	T	C	11126794	3	2	486	1	0	0	0	0	1	0	0	0	5351	1638	57	5	22	5	EXOSC10	1	11126794	Missense_Mutation	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	3052678	11126794	238123827	5	93495											
MTHFR	4524	broad.mit.edu	37	chr1	11855277	11855277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagctcctggcacaggctCacggccagctcgatgccata	10	6	11	14	2	1	1	1	0	0	1	3	2	2	1	3	3	3	4	3	3	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:11855277C>T	ENST00000376592.1	-	5	1037	c.909G>A	c.(907-909)gtG>gtA	p.V303V	MTHFR_ENST00000376583.3_Silent_p.V344V|MTHFR_ENST00000376585.1_Silent_p.V344V|MTHFR_ENST00000376590.3_Silent_p.V303V			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	303					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GGCACAGGCTCACGGCCAGCT	0.592													19	55					0	0	0	0	T	11855277	C	T	11855277	2	4	486	1	0	0	0	0	0	0	0	1	10001	813	29	2		2	MTHFR	1	11855277	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	728483	11855277	237395344	6	93496											
SPEN	23013	broad.mit.edu	37	chr1	16264419	16264419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcggtccctgcccctttCtgaaggagggcccccactaa	7	8	9	17	1	1	1	0	1	1	0	3	2	2	2	6	3	1	0	6	3	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16264419C>T	ENST00000375759.3	+	13	10826	c.10622C>T	c.(10621-10623)tCt>tTt	p.S3541F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3541	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCCCCTTTCTGAAGGAGGG	0.627													36	67					0	0	0	0	T	16264419	C	T	16264419	3	4	486	1	0	0	0	0	1	0	0	0	15128	913	32	2	10672	2	SPEN	1	16264419	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4409142	16264419	232986202	7	93497											
ZBTB17	7709	broad.mit.edu	37	chr1	16268624	16268624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactgctgatagaagtccGcgtctgtctggaacatgacc	10	10	10	11	2	2	3	0	2	2	1	3	4	3	4	2	1	3	1	2	1	4	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16268624G>T	ENST00000375733.2	-	16	2511	c.2273C>A	c.(2272-2274)gCg>gAg	p.A758E	ZBTB17_ENST00000375743.4_Missense_Mutation_p.A751E|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A669E			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	751	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGAAGTCCGCGTCTGTCTG	0.642													27	79					2.24059e-21	2.36324e-21	1	0	T	16268624	G	T	16268624	3	4	486	1	0	0	0	0	1	0	0	0	17622	1087	38	3	163	3	ZBTB17	1	16268624	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	4205	16268624	232981997	8	93498											
EPHA2	1969	broad.mit.edu	37	chr1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggctggttaccaggcctGagacgccattgcgggcctcc	5	8	14	14	3	0	1	0	1	0	1	1	2	1	1	5	4	3	2	5	4	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TACCAGGCCTGAGACGCCATT	0.637													24	79					0	0	0	0	C	16464404	G	C	16464404	4	2	486	1	0	0	0	0	0	1	0	0	5205	1294	45	2	1726	2	EPHA2	1	16464404	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	195780	16464404	232786217	9	93499											
PADI3	51702	broad.mit.edu	37	chr1	17603149	17603149	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctttgtccctgccccCgatgggaaggtaagaacttc	8	10	11	12	1	0	2	0	1	0	1	2	4	1	3	3	2	3	2	3	2	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:17603149C>G	ENST00000375460.3	+	12	1483	c.1443C>G	c.(1441-1443)ccC>ccG	p.P481P		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	481					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P481P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCCTGCCCCCGATGGGAAGG	0.597													31	75					0	0	0	0	G	17603149	C	G	17603149	2	3	486	1	0	0	0	0	0	0	0	1	11450	639	23	3		3	PADI3	1	17603149	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1138745	17603149	231647472	10	93500											
SRRM1	10250	broad.mit.edu	37	chr1	24995838	24995838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaagagacgttcaccttCattatcatccaagcatagga	14	9	6	12	1	3	1	3	0	0	1	4	3	4	2	3	1	1	2	3	1	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:24995838C>T	ENST00000323848.9	+	14	2279	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	SRRM1_ENST00000374389.4_Missense_Mutation_p.S664L|SRRM1_ENST00000447431.2_Missense_Mutation_p.S667L|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	655	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGTTCACCTTCATTATCATCC	0.557													33	46					0	0	0	0	T	24995838	C	T	24995838	3	4	486	1	0	0	0	0	1	0	0	0	15258	838	29	2	2018	2	SRRM1	1	24995838	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	7392689	24995838	224254783	11	93501											
FCN3	8547	broad.mit.edu	37	chr1	27700854	27700854	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctctcaccttgaggAcctggggctcccttctcccc	4	9	8	20	0	2	1	1	1	2	0	5	2	3	2	7	3	1	1	7	3	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:27700854A>C	ENST00000270879.4	-	2	185	c.180T>G	c.(178-180)ggT>ggG	p.G60G	FCN3_ENST00000354982.2_Silent_p.G60G	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	60	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CACCTTGAGGACCTGGGGCTC	0.602													19	36					0	0	0	0	C	27700854	A	C	27700854	2	2	486	1	0	0	0	0	0	0	0	1	5838	262	10	5		5	FCN3	1	27700854	Silent	SNP	A	TCGA-T2-A6X2-01A-12D-A34J-08	2705016	27700854	221549767	12	93502											
PTPRU	10076	broad.mit.edu	37	chr1	29602185	29602185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaacctgctgccctatcGgaacgttcacgtgaggcttg	9	9	11	12	3	1	2	1	1	0	1	2	3	1	3	2	2	4	3	2	2	4	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:29602185G>A	ENST00000323874.8	+	8	1480	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	PTPRU_ENST00000345512.3_Missense_Mutation_p.R457Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R457Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R457Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R457Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R457Q			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	457	Fibronectin type-III 2.				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.R457Q(1)		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)		CTGCCCTATCGGAACGTTCAC	0.567													19	32					0	0	0	0	A	29602185	G	A	29602185	3	1	486	1	0	0	0	0	1	0	0	0	12895	1116	39	1	1400	1	PTPRU	1	29602185	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1901331	29602185	219648436	13	93503											
GJA4	2701	broad.mit.edu	37	chr1	35259836	35259836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggtgactggggcttcctgGagaagttgctggaccaggtc	6	10	17	8	0	0	2	0	1	0	1	2	4	1	3	2	6	1	3	2	6	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:35259836G>A	ENST00000342280.4	+	2	110	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	8					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGCTTCCTGGAGAAGTTGCT	0.617													11	36					0	0	0	0	A	35259836	G	A	35259836	3	1	486	1	0	0	0	0	1	0	0	0	6454	1175	41	2	24	2	GJA4	1	35259836	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5657651	35259836	213990785	14	93504											
GNL2	29889	broad.mit.edu	37	chr1	38047889	38047889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggttagtaaggcttgcatGgaaagcaagtgttggataat	12	11	14	4	1	0	0	0	0	0	0	0	2	0	2	0	4	2	6	0	4	5	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38047889G>C	ENST00000373062.3	-	8	942	c.844C>G	c.(844-846)Cat>Gat	p.H282D		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	282					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGGCTTGCATGGAAAGCAAGT	0.448													15	37					0	0	0	0	C	38047889	G	C	38047889	3	2	486	1	0	0	0	0	1	0	0	0	6587	1348	47	4	1387	4	GNL2	1	38047889	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2788053	38047889	211202732	15	93505											
RSPO1	284654	broad.mit.edu	37	chr1	38079858	38079858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgccatggcttaccaGgactactgcactccatggtg	7	10	11	13	0	0	0	0	0	0	0	1	1	1	1	4	3	5	2	4	3	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38079858G>A	ENST00000356545.2	-	6	1221	c.434C>T	c.(433-435)cCt>cTt	p.P145L	RSPO1_ENST00000401070.1_Missense_Mutation_p.P145L|RSPO1_ENST00000401071.2_Missense_Mutation_p.P145L|RSPO1_ENST00000373059.1_Missense_Mutation_p.P118L|RSPO1_ENST00000401068.1_Missense_Mutation_p.P145L|RSPO1_ENST00000401069.1_Missense_Mutation_p.P145L	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	145					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCTTACCAGGACTACTGCA	0.632													12	16					0	0	0	0	A	38079858	G	A	38079858	3	1	486	1	0	0	0	0	1	0	0	0	13794	1000	35	4	369	4	RSPO1	1	38079858	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	31969	38079858	211170763	16	93506											
EPHA10	284656	broad.mit.edu	37	chr1	38186220	38186220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagccaccagctgcccctCgtgccgctgtggagggagaa	7	5	13	16	2	0	1	0	0	0	1	1	3	0	2	6	2	4	2	6	2	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38186220C>T	ENST00000373048.4	-	13	2214	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	EPHA10_ENST00000427468.2_Missense_Mutation_p.E739K|EPHA10_ENST00000330210.7_Missense_Mutation_p.E234K|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	739	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTGCCCCTCGTGCCGCTGT	0.632													15	26					0	0	0	0	T	38186220	C	T	38186220	3	4	486	1	0	0	0	0	1	0	0	0	5204	893	31	1	831	1	EPHA10	1	38186220	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	106362	38186220	211064401	17	93507											
TTC22	55001	broad.mit.edu	37	chr1	55253400	55253400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcggtggcgggggtcCtcggacttcagcacttgccg	4	8	14	15	4	1	0	1	0	0	0	4	1	2	1	4	5	2	1	4	5	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:55253400C>G	ENST00000371276.4	-	3	826	c.723G>C	c.(721-723)gaG>gaC	p.E241D	TTC22_ENST00000371274.4_Missense_Mutation_p.E241D	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	241							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGCGGGGGTCCTCGGACTTCA	0.657													8	21					0	0	0	0	G	55253400	C	G	55253400	3	3	486	1	0	0	0	0	1	0	0	0	16785	680	24	4	1109	4	TTC22	1	55253400	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	17067180	55253400	193997221	18	93508											
PCSK9	255738	broad.mit.edu	37	chr1	55518431	55518431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcgtgctcaactgcCaagggaagggcacggttagc	8	6	15	12	3	1	0	1	0	0	0	1	1	1	1	2	3	5	3	2	3	4	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:55518431C>G	ENST00000302118.5	+	5	1056	c.766C>G	c.(766-768)Caa>Gaa	p.Q256E	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.Q56E	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	256	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCTCAACTGCCAAGGGAAGGG	0.667													12	51					0	0	0	0	G	55518431	C	G	55518431	3	3	486	1	0	0	0	0	1	0	0	0	11677	595	21	4	784	4	PCSK9	1	55518431	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	265031	55518431	193732190	19	93509											
RPE65	6121	broad.mit.edu	37	chr1	68903925	68903925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaggttggggagcctttCtggcattttttttcacctct	4	18	9	10	0	4	0	2	0	2	0	4	1	4	1	2	4	1	2	2	4	0	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:68903925C>G	ENST00000262340.5	-	10	1126	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	358					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGGAGCCTTTCTGGCATTTTT	0.338													23	59					0	0	0	0	G	68903925	C	G	68903925	3	3	486	1	0	0	0	0	1	0	0	0	13630	913	32	2	548	2	RPE65	1	68903925	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	13385494	68903925	180346696	20	93510											
TRIM33	51592	broad.mit.edu	37	chr1	114967317	114967317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtctcatctgatgggcttGaaaagctccacagttcatgt	10	12	9	10	0	3	2	2	2	2	0	5	2	4	2	1	1	1	3	1	1	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:114967317G>C	ENST00000358465.2	-	10	1839	c.1756C>G	c.(1756-1758)Caa>Gaa	p.Q586E	TRIM33_ENST00000450349.2_Missense_Mutation_p.Q194E|TRIM33_ENST00000369543.2_Missense_Mutation_p.Q586E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	586					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATGGGCTTGAAAAGCTCCA	0.443			T	RET	papillary thyroid								23	59					0	0	0	0	C	114967317	G	C	114967317	3	2	486	1	0	0	0	0	1	0	0	0	16602	1299	45	2	1671	2	TRIM33	1	114967317	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	46063392	114967317	134283304	21	93511											
CD58	965	broad.mit.edu	37	chr1	117078587	117078587	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttagttatttactcacCgctgcttgggatacaggttg	9	15	9	8	1	1	0	1	0	0	0	1	1	1	1	1	2	3	4	1	2	4	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:117078587C>A	ENST00000457047.2	-	3	681	c.628_splice	c.e3+1	p.G210_splice	CD58_ENST00000369487.3_Splice_Site_p.G210_splice|CD58_ENST00000369489.5_Splice_Site_p.G210_splice	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	210					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTACTCACCGCTGCTTGGG	0.343													33	100					2.51541e-25	2.66996e-25	1	0	A	117078587	C	A	117078587	5	1	486	1	0	0	0	0	0	0	1	0	3054	666	23	3	144	3	CD58	1	117078587	Splice_Site	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2111270	117078587	132172034	22	93512											
SEC22B	9554	broad.mit.edu	37	chr1	145103932	145103932	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgggaccttcaacagtatCagagtcaggctaagtaactc	12	8	10	11	1	3	1	3	0	0	1	4	2	3	2	2	2	2	3	2	2	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:145103932C>G	ENST00000453618.1	+	0	427							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										TCAACAGTATCAGAGTCAGGC	0.413													3	37					0	0	0	0	G	145103932	C	G	145103932	1	3	486	0	1	0	0	0	0	0	0	0	14076	827	29	2		2	SEC22B	1	145103932	RNA	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	28025345	145103932	104146689	23	93513											
ECM1	1893	broad.mit.edu	37	chr1	150485800	150485800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttacctgagtcctggggatGaacaggtcaactgcttcaac	10	10	11	10	0	2	2	2	2	0	0	3	3	3	3	2	3	5	2	2	3	4	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:150485800G>A	ENST00000369047.4	+	10	1605	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ECM1_ENST00000346569.6_Missense_Mutation_p.E369K|ECM1_ENST00000369049.4_Missense_Mutation_p.E521K|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	494					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCTGGGGATGAACAGGTCAA	0.522													45	126					0	0	0	0	A	150485800	G	A	150485800	3	1	486	1	0	0	0	0	1	0	0	0	4933	1291	45	2	1518	2	ECM1	1	150485800	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5381868	150485800	98764821	24	93514											
LYSMD1	388695	broad.mit.edu	37	chr1	151134465	151134465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctttctcttcctcagagtCcaaaccattgaacaggtctc	10	13	5	13	0	4	2	1	1	3	1	8	2	6	2	3	1	2	0	3	1	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:151134465C>G	ENST00000368908.5	-	2	952	c.292G>C	c.(292-294)Gac>Cac	p.D98H	LYSMD1_ENST00000440902.2_Missense_Mutation_p.D50H	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	98					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	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)			TCCTCAGAGTCCAAACCATTG	0.463													34	94					0	0	0	0	G	151134465	C	G	151134465	3	3	486	1	0	0	0	0	1	0	0	0	9189	855	30	2	399	2	LYSMD1	1	151134465	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	648665	151134465	98116156	25	93515											
CRNN	49860	broad.mit.edu	37	chr1	152384626	152384626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcagctcccctcgggtGagcgctgtgcagttgccctc	3	12	11	15	2	1	1	1	1	0	0	4	1	2	1	3	1	4	4	3	1	0	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:152384626G>A	ENST00000271835.3	-	2	146	c.84C>T	c.(82-84)ctC>ctT	p.L28L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	28					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTCGGGTGAGCGCTGTGC	0.547													42	92					0	0	0	0	A	152384626	G	A	152384626	2	1	486	1	0	0	0	0	0	0	0	1	3922	1277	45	2		2	CRNN	1	152384626	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1250161	152384626	96865995	26	93516											
RAB13	5872	broad.mit.edu	37	chr1	153955285	153955285	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaccccagccgaggcattCtgggggcaaaagacaagtaa	13	5	11	12	1	1	1	0	0	1	1	2	2	2	1	4	3	1	3	4	3	4	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:153955285C>T	ENST00000368575.3	-	5	440		c.e5-1		RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGAGGCATTCTGGGGGCAAA	0.602													13	36					0	0	0	0	T	153955285	C	T	153955285	5	4	486	1	0	0	0	0	0	0	1	0	12981	927	32	2	303	2	RAB13	1	153955285	Splice_Site	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1570659	153955285	95295336	27	93517											
TTC24	164118	broad.mit.edu	37	chr1	156555792	156555792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtccaggccctcccagagCggagtaccctagcatcttgg	8	7	12	14	1	1	1	0	0	1	1	3	2	3	2	4	4	3	2	4	4	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:156555792C>T	ENST00000368236.3	+	10	1658	c.1622C>T	c.(1621-1623)gCg>gTg	p.A541V	TTC24_ENST00000368237.3_Missense_Mutation_p.A541V|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	541							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCCAGAGCGGAGTACCCT	0.537													5	12					0	0	0	0	T	156555792	C	T	156555792	3	4	486	1	0	0	0	0	1	0	0	0	16788	768	27	1	1656	1	TTC24	1	156555792	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2600507	156555792	92694829	28	93518											
NDUFS2	4720	broad.mit.edu	37	chr1	161183707	161183707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcagatgtcgttgccatCataggtacgaggcctattgt	8	13	12	8	2	1	1	1	0	0	1	2	2	1	1	2	3	2	3	2	3	3	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:161183707C>T	ENST00000392179.4	+	13	1589	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	NDUFS2_ENST00000367993.3_Silent_p.I450I|NDUFS2_ENST00000465923.1_3'UTR	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	450					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TCGTTGCCATCATAGGTACGA	0.493													49	140					0	0	0	0	T	161183707	C	T	161183707	2	4	486	1	0	0	0	0	0	0	0	1	10362	816	29	2		2	NDUFS2	1	161183707	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4627915	161183707	88066914	29	93519											
TBX19	9095	broad.mit.edu	37	chr1	168262431	168262431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaggttcacatagtgcGtgttggaagtgcccatcgaa	10	9	11	11	2	1	0	1	0	0	0	2	2	1	1	3	2	2	2	3	2	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:168262431G>A	ENST00000367821.3	+	3	569	c.518G>A	c.(517-519)cGt>cAt	p.R173H		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	173					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CACATAGTGCGTGTTGGAAGT	0.473													27	66					0	0	0	0	A	168262431	G	A	168262431	3	1	486	1	0	0	0	0	1	0	0	0	15748	1145	40	1	528	1	TBX19	1	168262431	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	7078724	168262431	80988190	30	93520											
CEP350	9857	broad.mit.edu	37	chr1	179983534	179983534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaaaaatgtccctccttCtgagccatcagcaactaggc	13	9	7	12	0	2	1	1	1	1	0	4	1	4	1	3	1	3	2	3	1	5	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:179983534C>T	ENST00000367607.3	+	10	2364	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	649						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTCCCTCCTTCTGAGCCATCA	0.428													5	6					0	0	0	0	T	179983534	C	T	179983534	3	4	486	1	0	0	0	0	1	0	0	0	3283	913	32	2	1980	2	CEP350	1	179983534	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	11721103	179983534	69267087	31	93521											
KIAA1614	57710	broad.mit.edu	37	chr1	180904549	180904549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgactacatcaacggggctCcccggctccgggacgcgggg	6	4	15	16	6	1	0	1	0	0	0	3	2	3	1	4	6	2	2	4	6	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:180904549C>A	ENST00000367588.4	+	5	1559	c.1504C>A	c.(1504-1506)Ccc>Acc	p.P502T	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P123T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	502										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CAACGGGGCTCCCCGGCTCCG	0.741													6	14					8.12818e-05	8.24336e-05	1	0	A	180904549	C	A	180904549	3	1	486	1	0	0	0	0	1	0	0	0	8299	855	30	2	1522	2	KIAA1614	1	180904549	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	921015	180904549	68346072	32	93522											
NAV1	89796	broad.mit.edu	37	chr1	201757655	201757655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacagcatccccacccacGaggcggccttcgagctgtac	9	5	9	18	3	0	0	0	0	0	0	2	2	1	0	5	2	4	3	5	2	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:201757655G>A	ENST00000367296.4	+	10	3475	c.3055G>A	c.(3055-3057)Gag>Aag	p.E1019K	NAV1_ENST00000367295.1_Missense_Mutation_p.E628K|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367297.4_Missense_Mutation_p.E1019K|NAV1_ENST00000295624.6_Missense_Mutation_p.E1019K|NAV1_ENST00000367302.1_Intron|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1019					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCACCCACGAGGCGGCCTT	0.637													51	127					0	0	0	0	A	201757655	G	A	201757655	3	1	486	1	0	0	0	0	1	0	0	0	10253	1059	37	1	3150	1	NAV1	1	201757655	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	20853106	201757655	47492966	33	93523											
NUAK2	81788	broad.mit.edu	37	chr1	205275416	205275416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgccttgatggtagaggttgGagagaccgaagtcagcaatc	11	9	14	7	1	1	3	1	1	0	2	2	6	1	4	2	3	2	3	2	3	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:205275416G>C	ENST00000367157.3	-	5	716	c.590C>G	c.(589-591)tCc>tGc	p.S197C		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	197	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTAGAGGTTGGAGAGACCGAA	0.557													31	93					0	0	0	0	C	205275416	G	C	205275416	3	2	486	1	0	0	0	0	1	0	0	0	10784	1174	41	2	1308	2	NUAK2	1	205275416	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3517761	205275416	43975205	34	93524											
TMEM63A	9725	broad.mit.edu	37	chr1	226034852	226034852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataggtctgctgctgctgCtgctgcggagacagtgctgt	5	11	14	11	1	1	1	0	0	1	1	1	2	1	1	1	2	7	6	1	2	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:226034852C>T	ENST00000366835.3	-	24	2583	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	771						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCTGCTGCTGCTGCTGCGGAG	0.622													63	128					0	0	0	0	T	226034852	C	T	226034852	2	4	486	1	0	0	0	0	0	0	0	1	16284	796	28	4		4	TMEM63A	1	226034852	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	20759436	226034852	23215769	35	93525											
OBSCN	84033	broad.mit.edu	37	chr1	228465551	228465551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agaatcgcgagcccagctccGagtgaagggtgaggtggggg	9	5	19	8	3	0	3	0	2	0	1	2	5	1	3	2	4	2	1	2	4	2	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:228465551G>C	ENST00000570156.2	+	30	8212	c.8138G>C	c.(8137-8139)cGa>cCa	p.R2713P	OBSCN_ENST00000422127.1_Missense_Mutation_p.R2284P|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1131P|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2284P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1710	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAGCTCCGAGTGAAGGGT	0.627													33	55					0	0	0	0	C	228465551	G	C	228465551	3	2	486	1	0	0	0	0	1	0	0	0	10883	1058	37	3	6945	3	OBSCN	1	228465551	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2430699	228465551	20785070	36	93526											
PCNXL2	80003	broad.mit.edu	37	chr1	233398807	233398807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaattacttctcctttgtCaaacatgaggtgtaggcgat	10	14	9	8	1	2	2	1	2	1	0	3	3	2	2	1	2	2	1	1	2	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:233398807C>G	ENST00000258229.8	-	2	490	c.256G>C	c.(256-258)Gac>Cac	p.D86H	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	86						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCTCCTTTGTCAAACATGAGG	0.388													23	56					0	0	0	0	G	233398807	C	G	233398807	3	3	486	1	0	0	0	0	1	0	0	0	11663	826	29	2	6289	2	PCNXL2	1	233398807	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4933256	233398807	15851814	37	93527											
CHML	1122	broad.mit.edu	37	chr1	241797269	241797269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaattcttcagttggaaaGatctcctggaaaagtgtttc	12	13	9	7	0	3	2	1	0	2	2	5	4	3	4	1	2	0	2	1	2	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:241797269G>A	ENST00000366553.1	-	1	1963	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	600					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CAGTTGGAAAGATCTCCTGGA	0.463													55	104					0	0	0	0	A	241797269	G	A	241797269	2	1	486	1	0	0	0	0	0	0	0	1	3380	932	33	2		2	CHML	1	241797269	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	8398462	241797269	7453352	38	93528											
KIF26B	55083	broad.mit.edu	37	chr1	245530273	245530273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaggccatccagatGgtgctgacgttggagcaggc	10	6	16	9	1	0	2	0	1	0	1	1	4	1	4	2	5	3	4	2	5	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:245530273G>T	ENST00000407071.2	+	3	1043	c.603G>T	c.(601-603)atG>atT	p.M201I	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	201					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCATCCAGATGGTGCTGACGT	0.647													12	44					9.05144e-12	9.44744e-12	1	0	T	245530273	G	T	245530273	3	4	486	1	0	0	0	0	1	0	0	0	8346	1348	47	4	613	4	KIF26B	1	245530273	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3733004	245530273	3720348	39	93529											
OR2M4	26245	broad.mit.edu	37	chr1	248402323	248402323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accttccttttttctctggtCctgggcatcttctcactggc	3	17	7	14	0	3	0	1	0	3	0	7	0	5	0	3	3	0	1	3	3	0	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:248402323C>T	ENST00000306687.1	+	1	93	c.93C>T	c.(91-93)gtC>gtT	p.V31V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTCTCTGGTCCTGGGCATCT	0.478													43	96					0	0	0	0	T	248402323	C	T	248402323	2	4	486	1	0	0	0	0	0	0	0	1	11083	842	30	2		2	OR2M4	1	248402323	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2872050	248402323	848298	40	93530											
OR2T27	403239	broad.mit.edu	37	chr1	248813492	248813492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagcctttcccctcccctCtgcctcgctcatcctataaa	7	11	3	20	1	2	0	1	0	1	0	6	0	5	0	7	0	2	1	7	0	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:248813492C>T	ENST00000344889.3	-	1	693	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCCTCCCCTCTGCCTCGCTC	0.498													10	31					0	0	0	0	T	248813492	C	T	248813492	3	4	486	1	0	0	0	0	1	0	0	0	11092	922	32	2	262	2	OR2T27	1	248813492	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	411169	248813492	437129	41	93531											
HPCAL1	3241	broad.mit.edu	37	chr2	10559926	10559926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggcccgaggtgctgcagGacctgcgggagaacacggag	8	4	18	11	4	0	1	0	0	0	1	0	5	0	3	2	5	5	2	2	5	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:10559926G>T	ENST00000381765.3	+	4	569	c.43G>T	c.(43-45)Gac>Tac	p.D15Y	HPCAL1_ENST00000307845.3_Missense_Mutation_p.D15Y	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	15							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGTGCTGCAGGACCTGCGGGA	0.667													21	54					1.64113e-05	1.66777e-05	1	0	T	10559926	G	T	10559926	3	4	486	1	0	0	0	0	1	0	0	0	7380	1174	41	2	45	2	HPCAL1	2	10559926	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		10559926	232639447	42	93532											
GREB1	9687	broad.mit.edu	37	chr2	11706755	11706755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacaagaggttcttgccaGatgacaatggccacaatgct	12	10	10	9	0	1	4	0	2	1	2	1	4	1	4	2	2	2	2	2	2	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:11706755G>A	ENST00000381486.2	+	4	727	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GREB1_ENST00000381483.2_Missense_Mutation_p.D143N|GREB1_ENST00000234142.5_Missense_Mutation_p.D143N|GREB1_ENST00000263834.5_Missense_Mutation_p.D143N|GREB1_ENST00000389825.3_Missense_Mutation_p.D33N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	143						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTTCTTGCCAGATGACAATGG	0.592													45	116					0	0	0	0	A	11706755	G	A	11706755	3	1	486	1	0	0	0	0	1	0	0	0	6810	942	33	2	437	2	GREB1	2	11706755	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1146829	11706755	231492618	43	93533											
TRIM54	57159	broad.mit.edu	37	chr2	27522228	27522228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctctctgcaaggtcttcGgtgcccacaaggactgtgag	7	10	12	12	1	3	1	0	1	3	0	5	2	3	2	1	3	2	2	1	3	2	1	rs149008031		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:27522228G>A	ENST00000296098.4	+	3	727	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	TRIM54_ENST00000380075.2_Missense_Mutation_p.G153S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	153					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGTCTTCGGTGCCCACAA	0.542													18	43					0	0	0	0	A	27522228	G	A	27522228	3	1	486	1	0	0	0	0	1	0	0	0	16623	1116	39	1	467	1	TRIM54	2	27522228	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	15815473	27522228	215677145	44	93534											
BIRC6	57448	broad.mit.edu	37	chr2	32738125	32738127	+	In_Frame_Del	DEL	CTT	CTT	-																															tggtcttctgatgccatctcCttctcatttgcactgtgtag																										TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:32738125_32738127delCTT	ENST00000421745.2	+	54	10606_10608	c.10472_10474delCTT	c.(10471-10476)cct>c	p.PS3491del		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3491					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)					ATGCCATCTCCTTCTCATTTGCA	0.453													44	78	---	---	---	---					-	32738127	CTT	-	32738125	7	5	486	1	0	1	0	1	0	0	0	0	1443	681	24	0	10686	0	BIRC6	2	32738125	In_Frame_Del	DEL	CTT	TCGA-T2-A6X2-01A-12D-A34J-08	5215897	32738125	210461248	45	93535											
CCDC88A	55704	broad.mit.edu	37	chr2	55561412	55561412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttcttctaatgtggtatCtttaatttctgcttgttgtc	6	23	6	6	0	4	0	0	0	4	0	5	0	4	0	0	1	1	3	0	1	3	10			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:55561412C>G	ENST00000436346.1	-	15	3386	c.2545G>C	c.(2545-2547)Gat>Cat	p.D849H	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D849H|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D849H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D849H|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	849					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AATGTGGTATCTTTAATTTCT	0.313													6	100					0	0	0	0	G	55561412	C	G	55561412	3	3	486	1	0	0	0	0	1	0	0	0	2890	913	32	2	3142	2	CCDC88A	2	55561412	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	22823287	55561412	187637961	46	93536											
KIAA1841	84542	broad.mit.edu	37	chr2	61310292	61310292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctatgattttttaggttGaacagtgtattcagtattgc	9	20	8	4	0	2	2	1	2	1	0	2	2	2	2	0	1	2	3	0	1	5	10			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:61310292G>A	ENST00000402291.1	+	8	974	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	KIAA1841_ENST00000453873.1_Missense_Mutation_p.E245K|KIAA1841_ENST00000356719.2_Missense_Mutation_p.E245K|KIAA1841_ENST00000295031.5_Missense_Mutation_p.E245K|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	245										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TTTTTAGGTTGAACAGTGTAT	0.323													35	93					0	0	0	0	A	61310292	G	A	61310292	3	1	486	1	0	0	0	0	1	0	0	0	8312	1291	45	2	755	2	KIAA1841	2	61310292	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5748880	61310292	181889081	47	93537											
EHBP1	23301	broad.mit.edu	37	chr2	63175858	63175858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagtctcagcagagctctgGaaggacttcaggatctgatg	11	9	13	8	0	4	2	2	1	3	1	5	6	4	5	0	3	2	2	0	3	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:63175858G>T	ENST00000263991.5	+	14	2464	c.1982G>T	c.(1981-1983)gGa>gTa	p.G661V	EHBP1_ENST00000405289.1_Missense_Mutation_p.G626V|EHBP1_ENST00000431489.1_Missense_Mutation_p.G626V|EHBP1_ENST00000405015.3_Missense_Mutation_p.G626V|EHBP1_ENST00000354487.3_Missense_Mutation_p.G626V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	661						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CAGAGCTCTGGAAGGACTTCA	0.463													16	57					6.31663e-08	6.47164e-08	1	0	T	63175858	G	T	63175858	3	4	486	1	0	0	0	0	1	0	0	0	5011	1174	41	2	2032	2	EHBP1	2	63175858	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1865566	63175858	180023515	48	93538											
ARHGAP25	9938	broad.mit.edu	37	chr2	69043430	69043430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctcttcccaggctcagcagGagttgatgaagcagctctcc	8	10	10	13	0	3	2	1	2	2	0	6	3	4	3	2	2	3	5	2	2	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:69043430G>C	ENST00000295381.3	+	7	1233	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ARHGAP25_ENST00000544262.1_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E233Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E273Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E265Q|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E266Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	272	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGCTCAGCAGGAGTTGATGAA	0.488													34	74					0	0	0	0	C	69043430	G	C	69043430	3	2	486	1	0	0	0	0	1	0	0	0	876	1175	41	2	883	2	ARHGAP25	2	69043430	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5867572	69043430	174155943	49	93539											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73339681	73339681	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agggcccccggcggcagctcGaaggagcactcctcacgcca	8	3	13	17	4	1	0	1	0	0	0	3	2	2	1	4	4	2	3	4	4	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:73339681G>C	ENST00000258098.6	-	1	465	c.225C>G	c.(223-225)ttC>ttG	p.F75L		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	75	C2.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCGGCAGCTCGAAGGAGCACT	0.746													6	14					0	0	0	0	C	73339681	G	C	73339681	3	2	486	1	0	0	0	0	1	0	0	0	12979	1049	37	3	1756	3	RAB11FIP5	2	73339681	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	4296251	73339681	169859692	50	93540											
LOXL3	84695	broad.mit.edu	37	chr2	74761274	74761274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgtgatgtcaatccactGacagtcaatgtcatgccggt	10	11	9	11	2	3	2	3	2	0	0	5	2	5	2	3	1	1	0	3	1	2	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:74761274G>T	ENST00000264094.3	-	12	2100	c.2029C>A	c.(2029-2031)Cag>Aag	p.Q677K	LOXL3_ENST00000409249.1_Missense_Mutation_p.Q395K|LOXL3_ENST00000409986.1_Missense_Mutation_p.Q532K|LOXL3_ENST00000409549.1_Missense_Mutation_p.Q621K|LOXL3_ENST00000393937.2_Missense_Mutation_p.Q532K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	677	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCAATCCACTGACAGTCAATG	0.527													31	56					7.01153e-11	7.27283e-11	1	0	T	74761274	G	T	74761274	3	4	486	1	0	0	0	0	1	0	0	0	8965	1299	45	2	244	2	LOXL3	2	74761274	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1421593	74761274	168438099	51	93541											
RGPD4	285190	broad.mit.edu	37	chr2	108487533	108487533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgactttgagaaagatGatgatgcctataagactgag	13	10	12	6	1	0	7	0	5	0	3	0	8	0	7	2	1	1	0	2	1	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:108487533G>T	ENST00000408999.3	+	20	3150	c.3073G>T	c.(3073-3075)Gat>Tat	p.D1025Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1025Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1025					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAGAAAGATGATGATGCCTA	0.383													139	346					3.27855e-105	3.53999e-105	1	0	T	108487533	G	T	108487533	3	4	486	1	0	0	0	0	1	0	0	0	13370	1290	45	2	3151	2	RGPD4	2	108487533	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	33726259	108487533	134711840	52	93542											
TMEM87B	84910	broad.mit.edu	37	chr2	112865405	112865405	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaaatattccctcttCattcacagatgtgtaagtta	15	13	6	7	0	3	3	2	0	1	3	4	3	4	3	1	0	0	2	1	0	6	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:112865405C>A	ENST00000283206.4	+	17	1934	c.1565C>A	c.(1564-1566)tCa>tAa	p.S522*		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	522						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATTCCCTCTTCATTCACAGAT	0.318													40	79					6.2361e-21	6.54987e-21	1	0	A	112865405	C	A	112865405	4	1	486	1	0	0	0	0	0	1	0	0	16305	838	29	2	1631	2	TMEM87B	2	112865405	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4377872	112865405	130333968	53	93543											
DPP10	57628	broad.mit.edu	37	chr2	116485415	116485415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatatttttgaaaataatatCtactatcaacctgatataaa	18	16	2	5	0	2	2	1	2	1	0	2	2	2	2	1	0	2	0	1	0	12	10			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:116485415C>G	ENST00000410059.1	+	8	1080	c.600C>G	c.(598-600)atC>atG	p.I200M	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.I204M|DPP10_ENST00000310323.8_Missense_Mutation_p.I193M|DPP10_ENST00000409163.1_Missense_Mutation_p.I150M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	200					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAATAATATCTACTATCAAC	0.308													15	23					0	0	0	0	G	116485415	C	G	116485415	3	3	486	1	0	0	0	0	1	0	0	0	4763	903	32	2	801	2	DPP10	2	116485415	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3620010	116485415	126713958	54	93544											
LCT	3938	broad.mit.edu	37	chr2	136566641	136566641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgatgacggcgtgggctatCctatatggtgcccagcctgg	6	11	14	10	2	0	2	0	2	0	0	1	2	1	2	3	4	2	1	3	4	3	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:136566641C>T	ENST00000264162.2	-	8	3286	c.3276G>A	c.(3274-3276)agG>agA	p.R1092R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1092	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGTGGGCTATCCTATATGGTG	0.537													25	45					0	0	0	0	T	136566641	C	T	136566641	2	4	486	1	0	0	0	0	0	0	0	1	8746	854	30	2		2	LCT	2	136566641	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	20081226	136566641	106632732	55	93545											
LRP1B	53353	broad.mit.edu	37	chr2	141135780	141135780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catctgcacagtcaaaatctCcatcacaccaaaaccttgaa	16	8	3	14	0	4	1	2	1	2	0	5	1	4	1	3	0	2	1	3	0	5	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:141135780C>G	ENST00000389484.3	-	68	11578	c.10607G>C	c.(10606-10608)gGa>gCa	p.G3536A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3536	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCAAAATCTCCATCACACCA	0.403										TSP Lung(27;0.18)			27	79					0	0	0	0	G	141135780	C	G	141135780	3	3	486	1	0	0	0	0	1	0	0	0	9019	855	30	2	3288	2	LRP1B	2	141135780	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4569139	141135780	102063593	56	93546											
XIRP2	129446	broad.mit.edu	37	chr2	168106801	168106801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtgaaacagtttgaagcaGagccaaataaaagtggcctt	16	8	11	6	0	0	3	0	2	0	1	0	4	0	3	2	1	3	2	2	1	5	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:168106801G>C	ENST00000409195.1	+	9	8988	c.8899G>C	c.(8899-8901)Gag>Cag	p.E2967Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2745Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2967Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2792				S -> A (in Ref. 8; CAD91141).	actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTGAAGCAGAGCCAAATAA	0.388													45	92					0	0	0	0	C	168106801	G	C	168106801	3	2	486	1	0	0	0	0	1	0	0	0	17526	943	33	2	8929	2	XIRP2	2	168106801	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	26971021	168106801	75092572	57	93547											
LRP2	4036	broad.mit.edu	37	chr2	170028582	170028582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcccatcacactgccaacGaagagggatgcagtggtgat	11	8	12	10	1	1	2	1	1	0	1	1	4	1	3	2	2	4	1	2	2	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:170028582G>A	ENST00000263816.3	-	58	11491	c.11206C>T	c.(11206-11208)Cgt>Tgt	p.R3736C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3736	LDL-receptor class A 31.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R3736C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTGCCAACGAAGAGGGATG	0.468													60	35					0	0	0	0	A	170028582	G	A	170028582	3	1	486	1	0	0	0	0	1	0	0	0	9020	1058	37	1	2849	1	LRP2	2	170028582	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1921781	170028582	73170791	58	93548											
ZAK	51776	broad.mit.edu	37	chr2	174096945	174096945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgggttcagcagctcgtcaGaaaaggcaagtggaataagt	13	9	13	6	1	2	1	2	0	0	1	3	2	2	2	0	3	2	4	0	3	5	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:174096945G>C	ENST00000375213.3	+	13	1136	c.1058G>C	c.(1057-1059)aGa>aCa	p.R353T	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R353T	NM_016653.2	NP_057737.2																					CAGCTCGTCAGAAAAGGCAAG	0.388													39	107					0	0	0	0	C	174096945	G	C	174096945	3	2	486	1	0	0	0	0	1	0	0	0	17608	942	33	2	1489	2	ZAK	2	174096945	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	4068363	174096945	69102428	59	93549											
TTN	7273	broad.mit.edu	37	chr2	179417290	179417290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcccaatagtgacaggatCactcagtcctttctcatttt	9	14	7	11	0	3	1	3	1	1	0	5	2	4	2	2	2	0	0	2	2	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179417290C>T	ENST00000589042.1	-	335	90561	c.90337G>A	c.(90337-90339)Gat>Aat	p.D30113N	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28472N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21240N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21173N|TTN_ENST00000460472.2_Missense_Mutation_p.D21048N|TTN_ENST00000342992.6_Missense_Mutation_p.D27545N|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28472	Fibronectin type-III 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGACAGGATCACTCAGTCCT	0.438													26	57					0	0	0	0	T	179417290	C	T	179417290	3	4	486	1	0	0	0	0	1	0	0	0	16831	826	29	2	17754	2	TTN	2	179417290	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	5320345	179417290	63782083	60	93550											
TTN	7273	broad.mit.edu	37	chr2	179422404	179422404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgacagtcacacaagctGaatctatatgatcactgatg	13	12	8	8	0	3	4	2	4	1	0	3	4	3	4	0	0	1	2	0	0	4	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179422404G>A	ENST00000589042.1	-	328	87901	c.87677C>T	c.(87676-87678)tCa>tTa	p.S29226L	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S27585L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20353L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S20286L|TTN_ENST00000460472.2_Missense_Mutation_p.S20161L|TTN_ENST00000342992.6_Missense_Mutation_p.S26658L|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27585	Fibronectin type-III 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACAAGCTGAATCTATATG	0.383													10	534					0	0	0	0	A	179422404	G	A	179422404	3	1	486	1	0	0	0	0	1	0	0	0	16831	1294	45	2	20442	2	TTN	2	179422404	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5114	179422404	63776969	61	93551											
TTN	7273	broad.mit.edu	37	chr2	179428253	179428253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattcataggaatggccttCggtaagaccagttaccctga	12	10	10	9	1	1	2	1	1	0	1	2	4	1	3	3	3	1	2	3	3	5	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179428253C>T	ENST00000589042.1	-	326	82830	c.82606G>A	c.(82606-82608)Gaa>Aaa	p.E27536K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25895K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18663K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18596K|TTN_ENST00000460472.2_Missense_Mutation_p.E18471K|TTN_ENST00000342992.6_Missense_Mutation_p.E24968K|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25895	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGGCCTTCGGTAAGACCA	0.473													67	116					0	0	0	0	T	179428253	C	T	179428253	3	4	486	1	0	0	0	0	1	0	0	0	16831	893	31	1	25521	1	TTN	2	179428253	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	5849	179428253	63771120	62	93552											
MFSD6	54842	broad.mit.edu	37	chr2	191301273	191301273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcaccccaccaatgcaaGtcaccagttaactatcctgc	13	8	4	16	0	2	0	2	0	0	0	3	0	3	0	5	0	4	2	5	0	5	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:191301273G>A	ENST00000392328.1	+	3	842	c.518G>A	c.(517-519)aGt>aAt	p.S173N	MFSD6_ENST00000281416.7_Missense_Mutation_p.S173N	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	173					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACCAATGCAAGTCACCAGTTA	0.428													33	73					0	0	0	0	A	191301273	G	A	191301273	3	1	486	1	0	0	0	0	1	0	0	0	9604	1029	36	4	520	4	MFSD6	2	191301273	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	11873020	191301273	51898100	63	93553											
NIF3L1	60491	broad.mit.edu	37	chr2	201758022	201758022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctcccaactaccctacaGagggaaaccaccgagtagaa	16	4	8	13	1	0	2	0	0	0	2	1	4	1	3	4	1	5	2	4	1	7	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:201758022G>A	ENST00000409020.1	+	3	784	c.490G>A	c.(490-492)Gag>Aag	p.E164K	NIF3L1_ENST00000416651.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000409588.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000359683.4_Missense_Mutation_p.E137K|NIF3L1_ENST00000409357.1_Missense_Mutation_p.E164K			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	164					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CTACCCTACAGAGGGAAACCA	0.463													51	106					0	0	0	0	A	201758022	G	A	201758022	3	1	486	1	0	0	0	0	1	0	0	0	10486	943	33	2	496	2	NIF3L1	2	201758022	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	10456749	201758022	41441351	64	93554											
CASP8	841	broad.mit.edu	37	chr2	202141586	202141586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaaatgaaaagcaaacctCggggatactgtctgatcatc	15	8	8	10	1	2	2	1	2	1	0	4	3	2	3	2	2	3	1	2	2	5	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:202141586C>T	ENST00000358485.4	+	7	1070	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000432109.2_Missense_Mutation_p.R233W	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGCAAACCTCGGGGATACTG	0.428										HNSCC(4;0.00038)			45	32					0	0	0	0	T	202141586	C	T	202141586	3	4	486	1	0	0	0	0	1	0	0	0	2702	893	31	1	1000	1	CASP8	2	202141586	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	383564	202141586	41057787	65	93555											
NRP2	8828	broad.mit.edu	37	chr2	206590642	206590642	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgctttccccagactttCagtgcaatgttcctctgggc	5	14	9	13	0	3	1	1	0	2	1	5	1	5	1	3	1	2	3	3	1	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:206590642C>T	ENST00000360409.3	+	6	1617	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	NRP2_ENST00000272849.3_Nonsense_Mutation_p.Q276*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.Q276*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.Q276*|NRP2_ENST00000355117.4_Nonsense_Mutation_p.Q276*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.Q276*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	276					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCAGACTTTCAGTGCAATGT	0.532													36	79					0	0	0	0	T	206590642	C	T	206590642	4	4	486	1	0	0	0	0	0	1	0	0	10732	827	29	2	848	2	NRP2	2	206590642	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4449056	206590642	36608731	66	93556											
SPEG	10290	broad.mit.edu	37	chr2	220347553	220347553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acggatcacctgaagctattCctctcccggcggaggtggca	8	8	12	13	3	2	1	1	1	1	0	4	3	3	3	3	5	1	2	3	5	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:220347553C>T	ENST00000312358.7	+	29	5745	c.5613C>T	c.(5611-5613)ttC>ttT	p.F1871F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1871					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGAAGCTATTCCTCTCCCGGC	0.592													17	30					0	0	0	0	T	220347553	C	T	220347553	2	4	486	1	0	0	0	0	0	0	0	1	15126	854	30	2		2	SPEG	2	220347553	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	13756911	220347553	22851820	67	93557											
SP100	6672	broad.mit.edu	37	chr2	231314967	231314967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccgttgccctgtgatgaaGaaagtaattattgcttacct	10	13	9	9	1	0	3	0	2	0	1	0	3	0	3	3	0	3	3	3	0	5	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:231314967G>C	ENST00000264052.5	+	8	1172	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	SP100_ENST00000409897.1_Missense_Mutation_p.E238Q|SP100_ENST00000427101.2_Missense_Mutation_p.E248Q|SP100_ENST00000409112.1_Missense_Mutation_p.E273Q|SP100_ENST00000409341.1_Missense_Mutation_p.E273Q|SP100_ENST00000409824.1_Missense_Mutation_p.E248Q|SP100_ENST00000341950.4_Missense_Mutation_p.E273Q|SP100_ENST00000340126.4_Missense_Mutation_p.E273Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	273					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGTGATGAAGAAAGTAATTA	0.428													31	73					0	0	0	0	C	231314967	G	C	231314967	3	2	486	1	0	0	0	0	1	0	0	0	15048	943	33	2	847	2	SP100	2	231314967	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	10967414	231314967	11884406	68	93558											
DIS3L2	129563	broad.mit.edu	37	chr2	233198570	233198570	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcactgtacttctgctcGgggctgctgcaggacccagc	6	9	13	13	1	1	0	0	0	1	0	2	1	1	1	1	4	5	6	1	4	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:233198570G>C	ENST00000325385.7	+	17	2307	c.2031G>C	c.(2029-2031)tcG>tcC	p.S677S	DIS3L2_ENST00000409307.1_Silent_p.S677S|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	677							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCTGCTCGGGGCTGCTGC	0.657											OREG0015283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	106					0	0	0	0	C	233198570	G	C	233198570	2	2	486	1	0	0	0	0	0	0	0	1	4574	1103	39	3		3	DIS3L2	2	233198570	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1883603	233198570	10000803	69	93559											
HACL1	26061	broad.mit.edu	37	chr3	15637922	15637922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatccaatcgcggaggcagCataacaagcctacgagaaaa	17	5	9	10	3	0	1	0	0	0	1	2	3	1	2	2	2	4	2	2	2	7	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:15637922C>T	ENST00000321169.5	-	3	563	c.196G>A	c.(196-198)Gct>Act	p.A66T	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.A66T|HACL1_ENST00000456194.2_Missense_Mutation_p.A66T|HACL1_ENST00000457447.2_Missense_Mutation_p.A66T	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	66					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCGGAGGCAGCATAACAAGCC	0.358													4	65					0	0	0	0	T	15637922	C	T	15637922	3	4	486	1	0	0	0	0	1	0	0	0	6991	710	25	4	1600	4	HACL1	3	15637922	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		15637922	182384508	70	93560											
TOP2B	7155	broad.mit.edu	37	chr3	25639816	25639816	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaattaaacattgcaaaAtcaacatcatcttcttcttc	15	15	1	10	0	5	0	2	0	3	0	6	0	5	0	0	0	3	1	0	0	6	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:25639816A>G	ENST00000435706.2	-	36	5049	c.4848T>C	c.(4846-4848)gaT>gaC	p.D1616D	TOP2B_ENST00000540199.1_Silent_p.D473D|TOP2B_ENST00000542520.1_Silent_p.D473D|TOP2B_ENST00000264331.4_Silent_p.D1621D			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1621					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ACATTGCAAAATCAACATCAT	0.398													49	41					0	0	0	0	G	25639816	A	G	25639816	2	3	486	1	0	0	0	0	0	0	0	1	16461	98	4	5		5	TOP2B	3	25639816	Silent	SNP	A	TCGA-T2-A6X2-01A-12D-A34J-08	10001894	25639816	172382614	71	93561											
TGFBR2	7048	broad.mit.edu	37	chr3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtgtgagacgttgactGagtgctgggaccacgaccca	8	9	15	9	2	0	3	0	3	0	1	0	6	0	4	2	2	1	2	2	2	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617													55	42					0	0	0	0	A	30732942	G	A	30732942	3	1	486	1	0	0	0	0	1	0	0	0	15916	1291	45	2	1660	2	TGFBR2	3	30732942	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5093126	30732942	167289488	72	93562											
TRANK1	9881	broad.mit.edu	37	chr3	36873736	36873736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgtgtttccaatgctgggGatgagtggttctttgcacct	6	15	12	8	0	1	1	0	1	1	0	2	2	2	2	2	3	2	4	2	3	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:36873736G>A	ENST00000301807.6	-	21	7453	c.5556C>T	c.(5554-5556)atC>atT	p.I1852I	TRANK1_ENST00000429976.2_Silent_p.I2402I|TRANK1_ENST00000428977.2_Silent_p.I1852I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2402					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAATGCTGGGGATGAGTGGTT	0.502													74	62					0	0	0	0	A	36873736	G	A	36873736	2	1	486	1	0	0	0	0	0	0	0	1	16549	1164	41	2		2	TRANK1	3	36873736	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	6140794	36873736	161148694	73	93563											
GOLGA4	2803	broad.mit.edu	37	chr3	37292899	37292899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctaggcgtcctccaattCttcaacaccaacaagaatga	15	9	5	12	1	3	2	1	1	2	1	5	2	5	2	3	1	2	0	3	1	7	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:37292899C>G	ENST00000361924.2	+	2	460	c.86C>G	c.(85-87)tCt>tGt	p.S29C	GOLGA4_ENST00000444882.1_Missense_Mutation_p.S29C|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S29C	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	29					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCTCCAATTCTTCAACACCA	0.393													46	32					0	0	0	0	G	37292899	C	G	37292899	3	3	486	1	0	0	0	0	1	0	0	0	6606	913	32	2	92	2	GOLGA4	3	37292899	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	419163	37292899	160729531	74	93564											
ZDHHC3	51304	broad.mit.edu	37	chr3	44974659	44974659	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtggaatcccaccatgatGagggcgtgcaaggaaatgag	14	6	14	7	1	0	3	0	3	0	0	1	5	1	5	2	3	1	1	2	3	4	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:44974659G>A	ENST00000296127.3	-	5	834	c.561C>T	c.(559-561)ctC>ctT	p.L187L	ZDHHC3_ENST00000424952.2_Silent_p.L187L|ZDHHC3_ENST00000342790.4_Silent_p.L221L	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	187						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CCACCATGATGAGGGCGTGCA	0.517													36	35					0	0	0	0	A	44974659	G	A	44974659	2	1	486	1	0	0	0	0	0	0	0	1	17711	1277	45	2		2	ZDHHC3	3	44974659	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	7681760	44974659	153047771	75	93565											
CDC25A	993	broad.mit.edu	37	chr3	48205825	48205825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctctctcagaagaaaactCgcagtgaaacacaacaatga	18	6	6	11	1	2	4	1	2	1	2	4	4	2	4	1	0	3	1	1	0	6	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:48205825C>T	ENST00000302506.3	-	13	1702	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	CDC25A_ENST00000351231.3_Missense_Mutation_p.E392K	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	432	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAAGAAAACTCGCAGTGAAAC	0.498													7	133					0	0	0	0	T	48205825	C	T	48205825	3	4	486	1	0	0	0	0	1	0	0	0	3091	893	31	1	292	1	CDC25A	3	48205825	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3231166	48205825	149816605	76	93566											
COL7A1	1294	broad.mit.edu	37	chr3	48612946	48612946	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtcgcccttcagcccGcgttctccaggaaagccgat	7	7	10	17	5	2	0	1	0	1	0	4	2	2	1	5	2	2	1	5	2	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:48612946G>A	ENST00000328333.8	-	73	6113	c.6006C>T	c.(6004-6006)cgC>cgT	p.R2002R	COL7A1_ENST00000454817.1_Silent_p.R1970R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2002	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTCAGCCCGCGTTCTCCAG	0.697													34	20					0	0	0	0	A	48612946	G	A	48612946	2	1	486	1	0	0	0	0	0	0	0	1	3734	1074	38	1		1	COL7A1	3	48612946	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	407121	48612946	149409484	77	93567											
RBM15B	29890	broad.mit.edu	37	chr3	51430187	51430187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattgatcacgtcaaaggaGatagctttgcctatattcag	12	12	8	9	1	3	2	3	1	0	1	3	3	3	2	2	1	2	1	2	1	4	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:51430187G>A	ENST00000323686.4	+	1	1457	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	453	RRM 3.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGTCAAAGGAGATAGCTTTGC	0.582													35	102					0	0	0	0	A	51430187	G	A	51430187	3	1	486	1	0	0	0	0	1	0	0	0	13199	942	33	2	1359	2	RBM15B	3	51430187	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2817241	51430187	146592243	78	93568											
DNAH1	25981	broad.mit.edu	37	chr3	52394003	52394003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtgctgtcagcgctaatCgtcattgaggtccatgccaa	9	10	11	11	2	2	1	2	1	0	0	4	1	3	1	2	1	3	3	2	1	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:52394003C>T	ENST00000420323.2	+	27	4740	c.4479C>T	c.(4477-4479)atC>atT	p.I1493I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1493	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCGCTAATCGTCATTGAGG	0.567													64	156					0	0	0	0	T	52394003	C	T	52394003	2	4	486	1	0	0	0	0	0	0	0	1	4634	874	31	1		1	DNAH1	3	52394003	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	963816	52394003	145628427	79	93569											
NISCH	11188	broad.mit.edu	37	chr3	52514222	52514222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgaagactcccggctctCagctgccccctgcatcagac	7	8	10	16	1	2	3	2	1	1	2	4	3	3	3	3	2	3	3	3	2	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:52514222C>T	ENST00000345716.4	+	13	1573	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L	NISCH_ENST00000479054.1_Missense_Mutation_p.S480L|NISCH_ENST00000488380.1_Missense_Mutation_p.S480L|NISCH_ENST00000420808.2_Missense_Mutation_p.S480L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	480	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCCGGCTCTCAGCTGCCCCC	0.632													20	66					0	0	0	0	T	52514222	C	T	52514222	3	4	486	1	0	0	0	0	1	0	0	0	10502	838	29	2	1489	2	NISCH	3	52514222	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	120219	52514222	145508208	80	93570											
FEZF2	55079	broad.mit.edu	37	chr3	62358352	62358352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagcggcgagcagaggttGagcagtttcttgccctggct	6	9	16	10	2	1	2	0	1	1	1	1	3	1	2	1	4	4	6	1	4	0	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:62358352G>A	ENST00000283268.3	-	2	486	c.192C>T	c.(190-192)ctC>ctT	p.L64L	FEZF2_ENST00000475839.1_Silent_p.L64L|FEZF2_ENST00000486811.1_Silent_p.L64L	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	64					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AGCAGAGGTTGAGCAGTTTCT	0.637													22	46					0	0	0	0	A	62358352	G	A	62358352	2	1	486	1	0	0	0	0	0	0	0	1	5871	1277	45	2		2	FEZF2	3	62358352	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	9844130	62358352	135664078	81	93571											
EPHA6	285220	broad.mit.edu	37	chr3	97467507	97467507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatacagactttacgtttaCacatgatgcacatacaggag	14	10	8	9	1	0	2	0	1	0	1	0	3	0	3	0	1	5	3	0	1	4	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:97467507C>A	ENST00000389672.5	+	18	3393	c.3355C>A	c.(3355-3357)Cac>Aac	p.H1119N		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1024						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTACGTTTACACATGATGCA	0.403													6	19					0.0293803	0.0294391	1	0	A	97467507	C	A	97467507	3	1	486	1	0	0	0	0	1	0	0	0	5209	478	17	4	3542	4	EPHA6	3	97467507	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	35109155	97467507	100554923	82	93572											
LSAMP	4045	broad.mit.edu	37	chr3	115805314	115805314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccagctcaacccgtGggtccagagaccacttgtca	8	10	9	14	1	3	1	2	0	1	1	5	2	4	1	4	1	2	2	4	1	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:115805314G>C	ENST00000490035.1	-	2	744	c.245C>G	c.(244-246)cCa>cGa	p.P82R	LSAMP_ENST00000539563.1_Missense_Mutation_p.P79R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	82	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCAACCCGTGGGTCCAGAGA	0.502													26	40					0	0	0	0	C	115805314	G	C	115805314	3	2	486	1	0	0	0	0	1	0	0	0	9112	1348	47	4	795	4	LSAMP	3	115805314	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	18337807	115805314	82217116	83	93573											
POLQ	10721	broad.mit.edu	37	chr3	121208473	121208473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttttccttaccactcaaaGatacatttttagcaaatggc	12	15	4	10	0	1	1	1	0	0	1	2	1	2	1	2	1	3	1	2	1	5	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:121208473G>C	ENST00000264233.5	-	16	3433	c.3305C>G	c.(3304-3306)tCt>tGt	p.S1102C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1102					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACCACTCAAAGATACATTTTT	0.333								DNA polymerases (catalytic subunits)					42	88					0	0	0	0	C	121208473	G	C	121208473	3	2	486	1	0	0	0	0	1	0	0	0	12280	942	33	2	4527	2	POLQ	3	121208473	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5403159	121208473	76813957	84	93574											
KPNA1	3836	broad.mit.edu	37	chr3	122168493	122168493	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttatcattgggtccatctGatagatatgagagggcccag	10	13	11	7	0	2	3	1	2	1	2	3	4	3	3	2	2	0	0	2	2	3	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:122168493G>C	ENST00000344337.6	-	9	1021	c.845C>G	c.(844-846)tCa>tGa	p.S282*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	282	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GGGTCCATCTGATAGATATGA	0.448													31	74					0	0	0	0	C	122168493	G	C	122168493	4	2	486	1	0	0	0	0	0	1	0	0	8481	1294	45	2	795	2	KPNA1	3	122168493	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	960020	122168493	75853937	85	93575											
MYLK	4638	broad.mit.edu	37	chr3	123427692	123427692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtggaagtcctctgactCttggatctcattcccattgt	9	14	8	10	0	3	1	1	1	3	0	6	3	5	3	2	2	0	0	2	2	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:123427692C>G	ENST00000360772.3	-	16	2371	c.1993G>C	c.(1993-1995)Gag>Cag	p.E665Q	MYLK_ENST00000475616.1_Missense_Mutation_p.E665Q|MYLK_ENST00000360304.3_Missense_Mutation_p.E665Q|MYLK_ENST00000359169.1_Missense_Mutation_p.E665Q|MYLK_ENST00000346322.5_Missense_Mutation_p.E596Q			Q15746	MYLK_HUMAN	myosin light chain kinase	665	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTCTGACTCTTGGATCTCA	0.577													34	114					0	0	0	0	G	123427692	C	G	123427692	3	3	486	1	0	0	0	0	1	0	0	0	10126	922	32	2	3831	2	MYLK	3	123427692	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1259199	123427692	74594738	86	93576											
TOPBP1	11073	broad.mit.edu	37	chr3	133368726	133368726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggttaaaacgaactccacctCcactgttaataagtcttctc	12	12	5	12	1	2	0	0	0	2	0	5	1	4	0	3	1	2	2	3	1	5	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:133368726C>G	ENST00000260810.5	-	9	1282	c.1151G>C	c.(1150-1152)gGa>gCa	p.G384A	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	384	BRCT 3.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AACTCCACCTCCACTGTTAAT	0.338								Other conserved DNA damage response genes					19	34					0	0	0	0	G	133368726	C	G	133368726	3	3	486	1	0	0	0	0	1	0	0	0	16464	855	30	2	3497	2	TOPBP1	3	133368726	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	9941034	133368726	64653704	87	93577											
TF	7018	broad.mit.edu	37	chr3	133478161	133478161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaccaccgaagactgcatCgccaagatcatggtatgtca	13	7	10	11	2	2	3	2	0	0	3	3	5	2	3	3	1	1	2	3	1	3	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:133478161C>T	ENST00000402696.3	+	9	1676	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	TF_ENST00000264998.3_Silent_p.I270I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	397	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.I397I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAGACTGCATCGCCAAGATCA	0.547													36	99					0	0	0	0	T	133478161	C	T	133478161	2	4	486	1	0	0	0	0	0	0	0	1	15879	874	31	1		1	TF	3	133478161	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	109435	133478161	64544269	88	93578											
GPR171	29909	broad.mit.edu	37	chr3	150916981	150916981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttcactggtaatgccaGagtaagcaggaaatcggctg	13	10	11	7	1	1	1	1	0	0	1	2	2	1	2	1	3	2	4	1	3	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:150916981G>T	ENST00000309180.5	-	3	423	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	65						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTAATGCCAGAGTAAGCAGG	0.408													29	89					3.65163e-15	3.82733e-15	1	0	T	150916981	G	T	150916981	3	4	486	1	0	0	0	0	1	0	0	0	6717	933	33	2	770	2	GPR171	3	150916981	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	17438820	150916981	47105449	89	93579											
IFT80	57560	broad.mit.edu	37	chr3	160073896	160073896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagtaatgggatgctcatGaggttgtgaattgtacagtg	11	13	14	3	0	1	3	1	3	0	0	1	4	1	4	0	2	2	4	0	2	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:160073896G>A	ENST00000326448.7	-	8	1114	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	IFT80_ENST00000496589.1_Missense_Mutation_p.H91Y|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.H399Y|IFT80_ENST00000483465.1_Missense_Mutation_p.H91Y	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	228						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGATGCTCATGAGGTTGTGAA	0.393													43	93					0	0	0	0	A	160073896	G	A	160073896	3	1	486	1	0	0	0	0	1	0	0	0	7617	1290	45	2	1703	2	IFT80	3	160073896	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	9156915	160073896	37948534	90	93580											
PEX5L	51555	broad.mit.edu	37	chr3	179519703	179519703	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggttggtccatcagagaGagcgcaattctgagggcagc	9	9	14	9	1	3	3	1	1	2	2	4	4	4	3	1	3	2	3	1	3	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:179519703G>C	ENST00000467460.1	-	15	2124	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	PEX5L_ENST00000485199.1_Silent_p.L563L|PEX5L_ENST00000476138.1_Silent_p.L555L|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.L574L|PEX5L_ENST00000263962.8_Silent_p.L596L|PEX5L_ENST00000464614.1_Silent_p.L490L|PEX5L_ENST00000392649.3_Silent_p.L490L|PEX5L_ENST00000472994.1_Silent_p.L539L|PEX5L_ENST00000468741.1_Silent_p.L406L	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	598					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCATCAGAGAGAGCGCAATTC	0.473													56	184					0	0	0	0	C	179519703	G	C	179519703	2	2	486	1	0	0	0	0	0	0	0	1	11821	929	33	2		2	PEX5L	3	179519703	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	19445807	179519703	18502727	91	93581											
ABCC5	10057	broad.mit.edu	37	chr3	183679419	183679419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccctctttcatgaagatCacttcatcacagtcaaccag	12	10	5	14	0	6	2	5	1	1	1	6	2	6	2	2	0	2	0	2	0	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:183679419C>T	ENST00000334444.6	-	16	2499	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	ABCC5_ENST00000265586.6_Silent_p.V753V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	753	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCATGAAGATCACTTCATCAC	0.398													28	65					0	0	0	0	T	183679419	C	T	183679419	2	4	486	1	0	0	0	0	0	0	0	1	56	813	29	2		2	ABCC5	3	183679419	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4159716	183679419	14343011	92	93582											
BCL6	604	broad.mit.edu	37	chr3	187447584	187447584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggagaagaggaggctgctGacagggaggtggctgtacat	10	7	18	6	1	0	3	0	1	0	2	1	6	0	5	0	6	2	4	0	6	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:187447584G>A	ENST00000406870.2	-	5	975	c.609C>T	c.(607-609)gtC>gtT	p.V203V	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Silent_p.V203V|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.V203V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	203					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGAGGCTGCTGACAGGGAGGT	0.627			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								15	43					0	0	0	0	A	187447584	G	A	187447584	2	1	486	1	0	0	0	0	0	0	0	1	1380	1277	45	2		2	BCL6	3	187447584	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3768165	187447584	10574846	93	93583											
FBXO45	200933	broad.mit.edu	37	chr3	196311148	196311148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgtatatggcaacacaGaagtgactttggtttacctt	10	14	9	8	0	0	2	0	1	0	1	0	2	0	2	1	2	3	4	1	2	5	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:196311148G>A	ENST00000311630.6	+	3	1117	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	FBXO45_ENST00000440469.1_Missense_Mutation_p.E95K	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	274	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGGCAACACAGAAGTGACTTT	0.443													14	37					0	0	0	0	A	196311148	G	A	196311148	3	1	486	1	0	0	0	0	1	0	0	0	5799	943	33	2	830	2	FBXO45	3	196311148	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	8863564	196311148	1711282	94	93584											
ZNF518B	85460	broad.mit.edu	37	chr4	10445505	10445505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtctgagtccgcctgtctCacagggcaaaatggaactgg	11	8	12	10	1	2	1	1	1	2	0	4	2	3	2	2	3	1	1	2	3	4	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:10445505C>T	ENST00000326756.3	-	3	2886	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CCGCCTGTCTCACAGGGCAAA	0.468													59	109					0	0	0	0	T	10445505	C	T	10445505	2	4	486	1	0	0	0	0	0	0	0	1	18058	813	29	2		2	ZNF518B	4	10445505	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		10445505	180708771	95	93585											
SEL1L3	23231	broad.mit.edu	37	chr4	25760611	25760611	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttattagaatggagagttGagtcaatttccaagaaatcc	14	13	9	5	0	1	4	1	1	0	3	3	5	3	4	2	1	0	2	2	1	6	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:25760611G>C	ENST00000399878.3	-	21	3157	c.3035C>G	c.(3034-3036)tCa>tGa	p.S1012*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.S859*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.S977*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1012						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATGGAGAGTTGAGTCAATTTC	0.433													44	88					0	0	0	0	C	25760611	G	C	25760611	4	2	486	1	0	0	0	0	0	1	0	0	14099	1294	45	2	379	2	SEL1L3	4	25760611	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	15315106	25760611	165393665	96	93586											
KIT	3815	broad.mit.edu	37	chr4	55575701	55575701	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagcatttaatgtttatgtGaatagtaagtaacatgaagg	16	14	9	2	0	0	2	0	2	0	0	0	2	0	2	0	1	2	4	0	1	8	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:55575701G>C	ENST00000288135.5	+	7	1324	c.1227G>C	c.(1225-1227)gtG>gtC	p.V409V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	409	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTTTATGTGAATAGTAAGT	0.373		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				28	74					0	0	0	0	C	55575701	G	C	55575701	2	2	486	1	0	0	0	0	0	0	0	1	8381	1277	45	2		2	KIT	4	55575701	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	29815090	55575701	135578575	97	93587											
THAP9	79725	broad.mit.edu	37	chr4	83827742	83827742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagaagagaaactactttCtgaagaaacagagtgtctgc	15	10	10	6	0	2	5	0	1	2	4	2	6	2	5	0	0	4	1	0	0	6	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:83827742C>T	ENST00000302236.5	+	3	593	c.542C>T	c.(541-543)tCt>tTt	p.S181F		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	181							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAACTACTTTCTGAAGAAACA	0.363													35	78					0	0	0	0	T	83827742	C	T	83827742	3	4	486	1	0	0	0	0	1	0	0	0	15945	913	32	2	552	2	THAP9	4	83827742	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	28252041	83827742	107326534	98	93588											
UNC5C	8633	broad.mit.edu	37	chr4	96199475	96199475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcctgttccaaagacacttCctttcctaggggttcctgct	6	15	7	13	0	0	1	0	0	0	1	5	1	5	1	5	2	1	3	5	2	2	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:96199475C>G	ENST00000453304.1	-	4	877	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	UNC5C_ENST00000504962.1_Missense_Mutation_p.E177Q|UNC5C_ENST00000506749.1_Missense_Mutation_p.E177Q	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	177	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.E177K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGACACTTCCTTTCCTAGG	0.408													23	58					0	0	0	0	G	96199475	C	G	96199475	3	3	486	1	0	0	0	0	1	0	0	0	17089	864	30	2	2318	2	UNC5C	4	96199475	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	12371733	96199475	94954801	99	93589											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99338644	99338644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaattgcaaattttgccaGaaatggtaagcatattagtt	14	13	9	5	0	0	1	0	0	0	1	0	1	0	1	1	2	3	5	1	2	6	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:99338644G>A	ENST00000408927.3	+	9	1147	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R346K|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R297K|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R346K|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R296K|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R254K	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	345							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AATTTTGCCAGAAATGGTAAG	0.368			T	NUP98	T-ALL								18	65					0	0	0	0	A	99338644	G	A	99338644	3	1	486	1	0	0	0	0	1	0	0	0	13121	942	33	2	1071	2	RAP1GDS1	4	99338644	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3139169	99338644	91815632	100	93590											
ANK2	287	broad.mit.edu	37	chr4	114251401	114251401	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttctattttaatttttaGtttcctggttagttttatgg	7	24	6	4	0	2	0	0	0	2	0	3	0	3	0	1	2	0	3	1	2	5	11			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:114251401G>A	ENST00000357077.4	+	27	2953		c.e27-1		ANK2_ENST00000509550.1_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000394537.3_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTAATTTTTAGTTTCCTGGTT	0.393													14	19					0	0	0	0	A	114251401	G	A	114251401	5	1	486	1	0	0	0	0	0	0	1	0	621	1043	36	4	3071	4	ANK2	4	114251401	Splice_Site	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	14912757	114251401	76902875	101	93591											
BBS7	55212	broad.mit.edu	37	chr4	122760789	122760789	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttctaatatttttaccttGagttccagccttgtagtatc	9	19	5	8	0	1	1	0	1	1	0	3	1	2	1	3	0	2	3	3	0	5	11			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:122760789G>C	ENST00000264499.4	-	13	1551	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	BBS7_ENST00000506636.1_Silent_p.L456L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	456					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTTACCTTGAGTTCCAGCC	0.353									Bardet-Biedl syndrome				15	36					0	0	0	0	C	122760789	G	C	122760789	2	2	486	1	0	0	0	0	0	0	0	1	1345	1277	45	2		2	BBS7	4	122760789	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	8509388	122760789	68393487	102	93592											
KIAA1109	84162	broad.mit.edu	37	chr4	123192658	123192658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaagaattcattaggaaGatctgaaagaagaacatcaa	22	7	7	5	0	3	5	2	1	1	4	3	6	3	6	0	1	2	0	0	1	9	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:123192658G>T	ENST00000264501.4	+	47	8352	c.7979G>T	c.(7978-7980)aGa>aTa	p.R2660I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2660I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2660I			Q2LD37	K1109_HUMAN	KIAA1109	2660					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATTAGGAAGATCTGAAAGA	0.353													13	36					4.36969e-10	4.51385e-10	1	0	T	123192658	G	T	123192658	3	4	486	1	0	0	0	0	1	0	0	0	8259	942	33	2	8157	2	KIAA1109	4	123192658	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	431869	123192658	67961618	103	93593											
FGA	2243	broad.mit.edu	37	chr4	155507127	155507127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacagtcagaaccatcttcgGaggtcaccacttctttggta	10	11	9	11	1	4	1	2	0	2	1	5	3	4	2	2	3	1	1	2	3	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:155507127G>A	ENST00000302053.3	-	5	1532	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	FGA_ENST00000403106.3_Missense_Mutation_p.S485F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	485					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCATCTTCGGAGGTCACCAC	0.502													55	124					0	0	0	0	A	155507127	G	A	155507127	3	1	486	1	0	0	0	0	1	0	0	0	5875	1174	41	2	1198	2	FGA	4	155507127	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	32314469	155507127	35647149	104	93594											
FAM198B	51313	broad.mit.edu	37	chr4	159051943	159051943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactataaaacttactctttGatgccttctaacaatttgaa	14	16	3	8	0	2	2	0	2	2	0	2	2	2	2	1	0	5	0	1	0	8	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:159051943G>C	ENST00000296530.8	-	4	1968	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	FAM198B_ENST00000393807.5_Missense_Mutation_p.I457M|FAM198B_ENST00000585682.1_Missense_Mutation_p.I449M	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	449						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTTACTCTTTGATGCCTTCTA	0.348													18	42					0	0	0	0	C	159051943	G	C	159051943	3	2	486	1	0	0	0	0	1	0	0	0	5572	1280	45	2	220	2	FAM198B	4	159051943	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3544816	159051943	32102333	105	93595											
KLHL2	11275	broad.mit.edu	37	chr4	166234437	166234437	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggagcatcacgtcagtgtCttagcacagtagaatgctat	12	11	10	8	1	3	1	2	0	1	1	3	2	3	2	0	1	3	4	0	1	4	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:166234437C>G	ENST00000226725.6	+	12	1646	c.1387C>G	c.(1387-1389)Ctt>Gtt	p.L463V	KLHL2_ENST00000421009.2_Missense_Mutation_p.L366V|KLHL2_ENST00000538127.1_Missense_Mutation_p.L375V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L467V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.L297V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	463					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		ACGTCAGTGTCTTAGCACAGT	0.388													32	75					0	0	0	0	G	166234437	C	G	166234437	3	3	486	1	0	0	0	0	1	0	0	0	8426	913	32	2	1475	2	KLHL2	4	166234437	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	7182494	166234437	24919839	106	93596											
IRF2	3660	broad.mit.edu	37	chr4	185350199	185350199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagccacgggcgcatgCgcatcctttccaccggcatg	6	7	10	18	4	0	0	0	0	0	0	3	0	3	0	6	2	2	3	6	2	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:185350199C>T	ENST00000393593.3	-	2	227	c.20G>A	c.(19-21)cGc>cAc	p.R7H	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	7					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CGGGCGCATGCGCATCCTTTC	0.587													17	37					0	0	0	0	T	185350199	C	T	185350199	3	4	486	1	0	0	0	0	1	0	0	0	7881	768	27	1	1061	1	IRF2	4	185350199	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	19115762	185350199	5804077	107	93597											
FAT1	2195	broad.mit.edu	37	chr4	187509932	187509932	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcgacagcgggcgcctcGaagtgtctttgataccctgg	6	10	12	13	4	2	1	0	1	2	0	4	3	2	1	2	2	2	0	2	2	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:187509932G>A	ENST00000441802.2	-	27	13790	c.13581C>T	c.(13579-13581)ttC>ttT	p.F4527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4527					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGCGCCTCGAAGTGTCTTT	0.562										HNSCC(5;0.00058)			26	55					0	0	0	0	A	187509932	G	A	187509932	2	1	486	1	0	0	0	0	0	0	0	1	5734	1049	37	1		1	FAT1	4	187509932	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2159733	187509932	3644344	108	93598											
ZFP42	132625	broad.mit.edu	37	chr4	188924281	188924281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatcagaacaacagctttCtcaaaaggttttcgaagcaa	16	9	8	8	1	2	1	2	0	1	1	4	3	2	2	0	2	4	3	0	2	6	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:188924281C>G	ENST00000326866.4	+	4	728	c.320C>G	c.(319-321)tCt>tGt	p.S107C	ZFP42_ENST00000509524.1_Missense_Mutation_p.S107C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	107					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CAACAGCTTTCTCAAAAGGTT	0.408													46	107					0	0	0	0	G	188924281	C	G	188924281	3	3	486	1	0	0	0	0	1	0	0	0	17745	913	32	2	322	2	ZFP42	4	188924281	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1414349	188924281	2229995	109	93599											
PLEKHG4B	153478	broad.mit.edu	37	chr5	181768	181768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgagcgaccgagtcccCgacagcatcgtcaagggcac	10	5	13	13	4	1	2	1	2	0	0	3	5	2	2	3	1	2	2	3	1	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:181768C>T	ENST00000283426.6	+	17	3524	c.3474C>T	c.(3472-3474)ccC>ccT	p.P1158P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1158					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ACCGAGTCCCCGACAGCATCG	0.622													34	68					0	0	0	0	T	181768	C	T	181768	2	4	486	1	0	0	0	0	0	0	0	1	12144	639	23	1		1	PLEKHG4B	5	181768	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		181768	180733492	110	93600											
MARCH6	10299	broad.mit.edu	37	chr5	10400928	10400928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatattggtcatttctccCttgttggtttgggatttgaa	7	18	9	7	0	2	1	1	1	1	0	3	2	2	2	2	3	0	2	2	3	2	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:10400928C>T	ENST00000274140.5	+	11	1078	c.946C>T	c.(946-948)Ctt>Ttt	p.L316F	MARCH6_ENST00000449913.2_Missense_Mutation_p.L268F|MARCH6_ENST00000503788.1_Missense_Mutation_p.L211F	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	316					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCATTTCTCCCTTGTTGGTTT	0.328													37	106					0	0	0	0	T	10400928	C	T	10400928	3	4	486	1	0	0	0	0	1	0	0	0	9374	681	24	4	988	4	MARCH6	5	10400928	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	10219160	10400928	170514332	111	93601											
ADAMTS12	81792	broad.mit.edu	37	chr5	33637805	33637805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtggacgttgcacaagcGatagcgttttctttctccag	7	12	13	9	3	2	0	0	0	2	0	3	2	2	1	1	3	3	3	1	3	2	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:33637805G>A	ENST00000504830.1	-	12	2100	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R589C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	589	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTGCACAAGCGATAGCGTTTT	0.458										HNSCC(64;0.19)			29	85					0	0	0	0	A	33637805	G	A	33637805	3	1	486	1	0	0	0	0	1	0	0	0	257	1058	37	1	3071	1	ADAMTS12	5	33637805	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	23236877	33637805	147277455	112	93602											
CAPSL	133690	broad.mit.edu	37	chr5	35909972	35909972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggctcttttacttaccaatCcatctttgtcatagggtgaa	10	15	7	9	0	3	1	1	1	2	0	4	1	4	1	2	2	2	1	2	2	5	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35909972C>G	ENST00000397367.2	-	4	647	c.521G>C	c.(520-522)gGa>gCa	p.G174A	CAPSL_ENST00000514524.1_Missense_Mutation_p.G174A|CAPSL_ENST00000397366.1_Missense_Mutation_p.G174A	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	174	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ACTTACCAATCCATCTTTGTC	0.353													48	108					0	0	0	0	G	35909972	C	G	35909972	3	3	486	1	0	0	0	0	1	0	0	0	2664	855	30	2	113	2	CAPSL	5	35909972	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2272167	35909972	145005288	113	93603			1	153		3	3	625	C		3.507344e-05
CAPSL	133690	broad.mit.edu	37	chr5	35910521	35910521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttccatttccatctttatCaaacctccggaaaagttctt	10	16	4	11	1	3	0	1	0	2	0	6	1	6	1	4	1	1	2	4	1	4	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35910521C>G	ENST00000397367.2	-	3	388	c.262G>C	c.(262-264)Gat>Cat	p.D88H	CAPSL_ENST00000514524.1_Missense_Mutation_p.D88H|CAPSL_ENST00000397366.1_Missense_Mutation_p.D88H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	88	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCATCTTTATCAAACCTCCGG	0.358													39	101					0	0	0	0	G	35910521	C	G	35910521	3	3	486	1	0	0	0	0	1	0	0	0	2664	826	29	2	376	2	CAPSL	5	35910521	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	549	35910521	145004739	114	93604			1	153		3	3	625	C		3.507344e-05
CAPSL	133690	broad.mit.edu	37	chr5	35910596	35910596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttaaccctttcataaattCtttaaaatcaagggttcgat	14	16	4	7	1	3	0	2	0	1	0	4	1	3	0	1	1	1	1	1	1	6	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35910596C>T	ENST00000397367.2	-	3	313	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAPSL_ENST00000514524.1_Missense_Mutation_p.E63K|CAPSL_ENST00000397366.1_Missense_Mutation_p.E63K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	63	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTCATAAATTCTTTAAAATCA	0.323													31	82					0	0	0	0	T	35910596	C	T	35910596	3	4	486	1	0	0	0	0	1	0	0	0	2664	922	32	2	451	2	CAPSL	5	35910596	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	75	35910596	145004664	115	93605			1	153		3	3	625	C		3.507344e-05
ITGA2	3673	broad.mit.edu	37	chr5	52360866	52360866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatgatgtgattgttggttCaccactagaaaatcagaatt	14	14	8	5	0	2	4	2	2	0	2	2	4	2	4	1	1	0	2	1	1	5	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:52360866C>T	ENST00000296585.5	+	14	1870	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	576					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATTGTTGGTTCACCACTAGAA	0.433													58	114					0	0	0	0	T	52360866	C	T	52360866	3	4	486	1	0	0	0	0	1	0	0	0	7928	838	29	2	1781	2	ITGA2	5	52360866	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	16450270	52360866	128554394	116	93606											
IPO11	51194	broad.mit.edu	37	chr5	61745762	61745762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttttacagtgctctctCagaggaggagaaaactactc	11	14	8	8	0	2	2	1	0	1	2	4	4	2	3	0	2	4	1	0	2	4	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:61745762C>T	ENST00000325324.6	+	4	417	c.248C>T	c.(247-249)tCa>tTa	p.S83L	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.S123L	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	83	Importin N-terminal.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGTGCTCTCTCAGAGGAGGAG	0.323													19	56					0	0	0	0	T	61745762	C	T	61745762	3	4	486	1	0	0	0	0	1	0	0	0	7846	838	29	2	382	2	IPO11	5	61745762	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	9384896	61745762	119169498	117	93607											
BDP1	55814	broad.mit.edu	37	chr5	70855889	70855889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctcaaagacagcaagttGaagcagcttttcagagtaga	16	8	9	8	0	2	4	2	1	0	3	2	4	2	4	1	0	4	5	1	0	5	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:70855889G>A	ENST00000358731.4	+	37	7584	c.7321G>A	c.(7321-7323)Gaa>Aaa	p.E2441K	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2441					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAGCAAGTTGAAGCAGCTTT	0.423													35	78					0	0	0	0	A	70855889	G	A	70855889	3	1	486	1	0	0	0	0	1	0	0	0	1399	1291	45	2	7467	2	BDP1	5	70855889	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	9110127	70855889	110059371	118	93608											
FOXD1	2297	broad.mit.edu	37	chr5	72743651	72743651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttgacgaagcagtcgttGagcgagaggttgtggcggat	9	10	16	6	4	1	3	0	2	1	1	2	6	1	4	0	3	2	3	0	3	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:72743651G>A	ENST00000499003.3	-	1	701	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	179					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		AGCAGTCGTTGAGCGAGAGGT	0.632													78	147					0	0	0	0	A	72743651	G	A	72743651	2	1	486	1	0	0	0	0	0	0	0	1	6041	1277	45	2		2	FOXD1	5	72743651	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1887762	72743651	108171609	119	93609											
IQGAP2	10788	broad.mit.edu	37	chr5	75886384	75886384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactctgggatgccaaaaaGaaaaaagaggaaaatgcaag	21	4	11	5	0	1	2	0	0	1	2	1	5	1	4	1	2	3	1	1	2	9	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:75886384G>C	ENST00000274364.6	+	8	1089	c.792G>C	c.(790-792)aaG>aaC	p.K264N	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	264	Poly-Lys.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATGCCAAAAAGAAAAAAGAGG	0.358													22	66					0	0	0	0	C	75886384	G	C	75886384	3	2	486	1	0	0	0	0	1	0	0	0	7868	933	33	2	822	2	IQGAP2	5	75886384	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3142733	75886384	105028876	120	93610											
BHMT2	23743	broad.mit.edu	37	chr5	78379463	78379463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattcaggactggagtccaGagttgccaccagatgggata	11	9	13	8	0	1	3	1	1	0	2	2	6	2	6	3	3	1	1	3	3	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:78379463G>C	ENST00000255192.3	+	7	860	c.794G>C	c.(793-795)aGa>aCa	p.R265T	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.R201T	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	265	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CTGGAGTCCAGAGTTGCCACC	0.438													19	51					0	0	0	0	C	78379463	G	C	78379463	3	2	486	1	0	0	0	0	1	0	0	0	1431	942	33	2	820	2	BHMT2	5	78379463	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2493079	78379463	102535797	121	93611											
NUDT12	83594	broad.mit.edu	37	chr5	102895751	102895751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaaaatgtttaccctttctCaagcagaaattggactatct	13	14	5	9	0	2	1	1	0	2	1	3	2	2	2	1	1	2	2	1	1	6	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:102895751C>G	ENST00000230792.2	-	2	295	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	67						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACCCTTTCTCAAGCAGAAAT	0.363													28	73					0	0	0	0	G	102895751	C	G	102895751	3	3	486	1	0	0	0	0	1	0	0	0	10799	835	29	2	1213	2	NUDT12	5	102895751	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	24516288	102895751	78019509	122	93612											
FBN2	2201	broad.mit.edu	37	chr5	127854968	127854968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcatttctcttcttacctCtttcacactgtggaccagtg	6	17	5	13	0	5	0	2	0	4	0	7	1	5	1	2	1	1	0	2	1	1	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:127854968C>G	ENST00000508053.1	-	11	1600	c.626G>C	c.(625-627)aGa>aCa	p.R209T	FBN2_ENST00000508989.1_Missense_Mutation_p.R176T|FBN2_ENST00000262464.4_Missense_Mutation_p.R209T			P35556	FBN2_HUMAN	fibrillin 2	209					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTCTTACCTCTTTCACACTG	0.373													20	50					0	0	0	0	G	127854968	C	G	127854968	3	3	486	1	0	0	0	0	1	0	0	0	5748	913	32	2	8356	2	FBN2	5	127854968	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	24959217	127854968	53060292	123	93613											
CDKL3	51265	broad.mit.edu	37	chr5	133644119	133644119	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttgactttaataactctGactttgatctccttgggctt	7	18	6	10	0	2	3	0	3	2	0	3	3	2	3	2	1	1	1	2	1	2	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:133644119G>A	ENST00000521755.1	-	3	158	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	CDKL3_ENST00000435240.2_Silent_p.V63V|CDKL3_ENST00000265334.4_Silent_p.V358V|CDKL3_ENST00000523054.1_Silent_p.V169V|CDKL3_ENST00000523832.1_Silent_p.V358V|CDKL3_ENST00000521118.1_Silent_p.V358V|CDKL3_ENST00000536186.1_Silent_p.V63V|CDKL3_ENST00000518409.1_5'UTR|CDKL3_ENST00000435211.1_Silent_p.V358V			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	372	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAATAACTCTGACTTTGATCT	0.348													14	35					0	0	0	0	A	133644119	G	A	133644119	4	1	486	1	0	0	0	0	0	1	0	0	3184	1277	45	2	728	2	CDKL3	5	133644119	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5789151	133644119	47271141	124	93614											
SIL1	64374	broad.mit.edu	37	chr5	138362571	138362571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactattgaacttgttgatCagccgtaccatgatctgcat	11	13	8	9	1	2	3	1	3	1	0	2	4	2	3	2	0	5	3	2	0	4	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:138362571C>T	ENST00000394817.2	-	6	703	c.564G>A	c.(562-564)ctG>ctA	p.L188L	SIL1_ENST00000265195.5_Silent_p.L188L|CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000509534.1_Silent_p.L195L	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	188	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTTGTTGATCAGCCGTACCA	0.443									Marinesco-Sjgren syndrome				32	81					0	0	0	0	T	138362571	C	T	138362571	2	4	486	1	0	0	0	0	0	0	0	1	14409	813	29	2		2	SIL1	5	138362571	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4718452	138362571	42552689	125	93615											
PCDHB6	56130	broad.mit.edu	37	chr5	140531996	140531996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggagcagggcggcctcgGtgggtcgctactcggtgccc	4	6	19	12	4	0	0	0	0	0	0	3	2	0	2	2	7	3	2	2	7	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:140531996G>T	ENST00000231136.1	+	1	2158	c.2158G>T	c.(2158-2160)Gtg>Ttg	p.V720L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V584L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		720					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGCCTCGGTGGGTCGCTA	0.647													84	242					3.59392e-34	3.83914e-34	1	0	T	140531996	G	T	140531996	3	4	486	1	0	0	0	0	1	0	0	0	11617	1261	44	4	2160	4	PCDHB6	5	140531996	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2169425	140531996	40383264	126	93616											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811313	140811313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgcaggatattctgcGcgagccaaagtcctgatcac	12	9	10	10	2	2	1	1	1	1	0	3	4	3	2	2	1	3	1	2	1	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:140811313G>A	ENST00000252085.3	+	1	1129	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512													44	138					0	0	0	0	A	140811313	G	A	140811313	2	1	486	1	0	0	0	0	0	0	0	1	11624	1074	38	1		1	PCDHGA12	5	140811313	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	279317	140811313	40103947	127	93617											
TCOF1	6949	broad.mit.edu	37	chr5	149769552	149769552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggagtccagtcggatatCagatggcaagaaacaggagg	15	5	14	7	1	1	2	1	0	0	2	3	5	2	5	1	5	1	1	1	5	4	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:149769552C>T	ENST00000451292.1	+	20	3368	c.3260C>T	c.(3259-3261)tCa>tTa	p.S1087L	TCOF1_ENST00000439160.2_Missense_Mutation_p.S1050L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S973L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1050L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1087L|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1050L|TCOF1_ENST00000445265.2_Missense_Mutation_p.S973L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1050					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCGGATATCAGATGGCAAG	0.587													12	25					0	0	0	0	T	149769552	C	T	149769552	3	4	486	1	0	0	0	0	1	0	0	0	15802	838	29	2	3245	2	TCOF1	5	149769552	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	8958239	149769552	31145708	128	93618											
HAND1	9421	broad.mit.edu	37	chr5	153857334	153857334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcccggggctctgccCaggcctggcgtcaggaccat	5	5	14	17	3	2	0	1	0	1	0	2	1	2	1	5	5	2	1	5	5	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:153857334C>A	ENST00000231121.2	-	1	490	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	79					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGCTCTGCCCAGGCCTGGCG	0.736													5	24					1.23904e-05	1.26171e-05	1	0	A	153857334	C	A	153857334	3	1	486	1	0	0	0	0	1	0	0	0	6999	594	21	4	420	4	HAND1	5	153857334	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4087782	153857334	27057926	129	93619											
SLU7	10569	broad.mit.edu	37	chr5	159842151	159842151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttccttcttcatcaacttCtgcaggagcattgcccaatt	8	15	5	13	0	4	0	2	0	2	0	5	1	5	1	2	1	4	2	2	1	2	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:159842151C>T	ENST00000297151.4	-	2	538	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	51					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCAACTTCTGCAGGAGCA	0.348													25	69					0	0	0	0	T	159842151	C	T	159842151	3	4	486	1	0	0	0	0	1	0	0	0	14843	922	32	2	1669	2	SLU7	5	159842151	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	5984817	159842151	21073109	130	93620											
PRR7	80758	broad.mit.edu	37	chr5	176882799	176882799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgccgccgccctatagcGaggtgctcacggacacgcgc	7	4	13	17	7	1	0	1	0	0	0	1	2	1	1	4	2	3	1	4	2	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:176882799G>A	ENST00000323249.3	+	4	992	c.502G>A	c.(502-504)Gag>Aag	p.E168K	PRR7_ENST00000510492.1_Missense_Mutation_p.E168K|PRR7_ENST00000502922.1_Missense_Mutation_p.E168K	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	168	Pro-rich.					cell junction|integral to membrane|postsynaptic membrane						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTATAGCGAGGTGCTCAC	0.667													10	22					0	0	0	0	A	176882799	G	A	176882799	3	1	486	1	0	0	0	0	1	0	0	0	12682	1059	37	1	508	1	PRR7	5	176882799	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	17040648	176882799	4032461	131	93621											
SCGB3A1	92304	broad.mit.edu	37	chr5	180017650	180017650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggcctggggacccagctCagccacacacttctgggagc	8	5	12	16	1	2	0	1	0	1	0	2	2	2	2	3	4	3	1	3	4	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:180017650C>T	ENST00000292641.3	-	2	318	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_052863.2	NP_443095.2	Q96QR1	SG3A1_HUMAN	secretoglobin, family 3A, member 1	81					negative regulation of cell growth|regulation of cell proliferation	extracellular space	cytokine activity			large_intestine(1)|lung(2)	3	all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCCAGCTCAGCCACACAC	0.692													5	5					0	0	0	0	T	180017650	C	T	180017650	3	4	486	1	0	0	0	0	1	0	0	0	13987	835	29	2	81	2	SCGB3A1	5	180017650	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3134851	180017650	897610	132	93622											
DSP	1832	broad.mit.edu	37	chr6	7583682	7583682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtataattgatccccatCggaatgagaagctgactgtc	11	11	11	8	1	0	3	0	3	0	1	3	5	1	4	2	2	1	2	2	2	4	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:7583682C>T	ENST00000379802.3	+	24	6528	c.6187C>T	c.(6187-6189)Cgg>Tgg	p.R2063W	DSP_ENST00000418664.2_Missense_Mutation_p.R1464W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2063	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATCCCCATCGGAATGAGAA	0.483													53	148					0	0	0	0	T	7583682	C	T	7583682	3	4	486	1	0	0	0	0	1	0	0	0	4817	875	31	1	6281	1	DSP	6	7583682	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		7583682	163531385	133	93623											
TFAP2A	7020	broad.mit.edu	37	chr6	10402728	10402728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtggattcgcttaccctCtactagtgatgtgagcaggg	9	11	12	9	1	1	2	0	2	1	0	2	3	1	3	1	2	3	2	1	2	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:10402728C>G	ENST00000379613.3	-	5	1142	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	TFAP2A_ENST00000319516.4_Missense_Mutation_p.E290Q|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E288Q|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E294Q|TFAP2A_ENST00000482890.1_Missense_Mutation_p.E294Q			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	294	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGCTTACCCTCTACTAGTGAT	0.418													31	63					0	0	0	0	G	10402728	C	G	10402728	3	3	486	1	0	0	0	0	1	0	0	0	15881	922	32	2	445	2	TFAP2A	6	10402728	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2819046	10402728	160712339	134	93624											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216803	26216803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcttcttgccatccttcttCtgcgccttggtcacagcctt	3	15	7	16	2	4	0	1	0	3	0	5	0	5	0	4	1	3	1	4	1	0	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26216803C>G	ENST00000244601.3	-	1	69	c.69G>C	c.(67-69)caG>caC	p.Q23H		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	23					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CATCCTTCTTCTGCGCCTTGG	0.507													83	159					0	0	0	0	G	26216803	C	G	26216803	3	3	486	1	0	0	0	0	1	0	0	0	7196	912	32	2	315	2	HIST1H2BG	6	26216803	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	15814075	26216803	144898264	135	93625											
BTN3A2	11118	broad.mit.edu	37	chr6	26373231	26373231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttcttgtggagacaacaGaaggaaataactgctctgtc	13	11	9	8	0	2	2	0	0	2	2	3	4	2	3	0	2	4	1	0	2	5	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26373231G>A	ENST00000356386.2	+	6	1010	c.822G>A	c.(820-822)caG>caA	p.Q274Q	BTN3A2_ENST00000396934.3_Silent_p.Q251Q|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Silent_p.Q274Q|BTN3A2_ENST00000527422.1_Silent_p.Q274Q|BTN3A2_ENST00000508906.2_Silent_p.Q232Q|BTN3A2_ENST00000377708.2_Silent_p.Q274Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	274						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GGAGACAACAGAAGGAAATAA	0.522													34	97					0	0	0	0	A	26373231	G	A	26373231	2	1	486	1	0	0	0	0	0	0	0	1	1572	933	33	2		2	BTN3A2	6	26373231	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	156428	26373231	144741836	136	93626											
BTN3A2	11118	broad.mit.edu	37	chr6	26373256	26373256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaataactgctctgtccagtGagatagaaagtgagcaagag	16	8	11	6	0	1	4	0	2	1	3	2	5	2	4	1	0	3	2	1	0	5	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26373256G>C	ENST00000356386.2	+	6	1035	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	BTN3A2_ENST00000396934.3_Missense_Mutation_p.E260Q|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Missense_Mutation_p.E283Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.E283Q|BTN3A2_ENST00000508906.2_Missense_Mutation_p.E241Q|BTN3A2_ENST00000377708.2_Missense_Mutation_p.E283Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	283						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCTGTCCAGTGAGATAGAAAG	0.498													31	88					0	0	0	0	C	26373256	G	C	26373256	3	2	486	1	0	0	0	0	1	0	0	0	1572	1291	45	2	861	2	BTN3A2	6	26373256	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	25	26373256	144741811	137	93627											
HIST1H2AJ	8331	broad.mit.edu	37	chr6	27782155	27782155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagtcttgtggtggctctCagttttctttggcagcagca	5	16	11	9	0	3	0	1	0	3	0	4	0	3	0	0	3	2	5	0	3	1	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:27782155C>T	ENST00000333151.3	-	1	452	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	122					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						TGGTGGCTCTCAGTTTTCTTT	0.493													78	177					0	0	0	0	T	27782155	C	T	27782155	3	4	486	1	0	0	0	0	1	0	0	0	7186	835	29	2	26	2	HIST1H2AJ	6	27782155	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1408899	27782155	143332912	138	93628											
HLA-B	3106	broad.mit.edu	37	chr6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacaagctcagtgtcctGagtttggtcctcgccatccc	6	11	8	16	1	1	1	1	1	0	0	6	1	5	1	5	1	1	2	5	1	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				9	159					0	0	0	0	C	31323241	G	C	31323241	3	2	486	1	0	0	0	0	1	0	0	0	7246	1299	45	2	356	2	HLA-B	6	31323241	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3541086	31323241	139791826	139	93629											
STK19	8859	broad.mit.edu	37	chr6	31948488	31948488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaccgggaactgctcctatCagagctcctgggccggcggg	6	7	15	13	3	1	1	1	0	0	1	3	2	3	2	4	4	4	3	4	4	3	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:31948488C>T	ENST00000375331.2	+	7	1125	c.959C>T	c.(958-960)tCa>tTa	p.S320L	STK19_ENST00000375333.2_Missense_Mutation_p.S324L	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	324						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CTGCTCCTATCAGAGCTCCTG	0.607													30	71					0	0	0	0	T	31948488	C	T	31948488	3	4	486	1	0	0	0	0	1	0	0	0	15382	838	29	2	997	2	STK19	6	31948488	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	625247	31948488	139166579	140	93630											
TAP1	6890	broad.mit.edu	37	chr6	32815823	32815823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcttcccagacccattgggtCccaccagcgccgtcacctcg	6	8	8	19	3	2	1	1	0	1	1	5	1	4	1	6	1	1	0	6	1	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:32815823C>G	ENST00000354258.4	-	8	1954	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.G337A	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	598	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCCATTGGGTCCCACCAGCGC	0.612													13	31					0	0	0	0	G	32815823	C	G	32815823	3	3	486	1	0	0	0	0	1	0	0	0	15641	855	30	2	649	2	TAP1	6	32815823	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	867335	32815823	138299244	141	93631											
SYNGAP1	8831	broad.mit.edu	37	chr6	33409032	33409032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgcagcagtttttgtatGagatctccaatctggacacg	10	12	9	10	1	2	1	0	1	2	1	3	3	2	2	2	1	2	4	2	1	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33409032G>C	ENST00000418600.2	+	12	2097	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E666Q|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E607Q|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	666					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTTTTTGTATGAGATCTCCAA	0.498													24	59					0	0	0	0	C	33409032	G	C	33409032	3	2	486	1	0	0	0	0	1	0	0	0	15538	1291	45	2	2042	2	SYNGAP1	6	33409032	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	593209	33409032	137706035	142	93632											
SYNGAP1	8831	broad.mit.edu	37	chr6	33409098	33409098	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttacatcgacttgggccgaGagctctccacactgcatgcc	8	9	10	14	2	1	1	0	0	1	1	3	3	1	1	3	1	4	3	3	1	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33409098G>C	ENST00000418600.2	+	12	2163	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E688Q|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E629Q|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	688					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTTGGGCCGAGAGCTCTCCAC	0.552													18	49					0	0	0	0	C	33409098	G	C	33409098	3	2	486	1	0	0	0	0	1	0	0	0	15538	943	33	2	2108	2	SYNGAP1	6	33409098	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	66	33409098	137705969	143	93633											
ITPR3	3710	broad.mit.edu	37	chr6	33660555	33660555	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctcctgttcttcttcatCgtcatcatcattgtgctgaa	7	16	6	12	1	6	1	4	1	2	0	8	2	7	1	2	0	1	2	2	0	1	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33660555C>T	ENST00000374316.5	+	56	8569	c.7509C>T	c.(7507-7509)atC>atT	p.I2503I	ITPR3_ENST00000605930.1_Silent_p.I2503I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2503					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCTTCTTCATCGTCATCATCA	0.537													37	78					0	0	0	0	T	33660555	C	T	33660555	2	4	486	1	0	0	0	0	0	0	0	1	7975	874	31	1		1	ITPR3	6	33660555	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	251457	33660555	137454512	144	93634											
FKBP5	2289	broad.mit.edu	37	chr6	35565124	35565124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttctccttcgcccacaGtgaatgccacatctctgcag	7	11	8	15	1	3	1	0	1	3	0	6	1	3	1	3	1	2	1	3	1	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:35565124G>C	ENST00000542713.1	-	6	723	c.566C>G	c.(565-567)aCt>aGt	p.T189S	FKBP5_ENST00000540787.1_Missense_Mutation_p.T10S|FKBP5_ENST00000539068.1_Missense_Mutation_p.T189S|FKBP5_ENST00000536438.1_Missense_Mutation_p.T189S|FKBP5_ENST00000357266.4_Missense_Mutation_p.T189S	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	189	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TTCGCCCACAGTGAATGCCAC	0.493													78	50					0	0	0	0	C	35565124	G	C	35565124	3	2	486	1	0	0	0	0	1	0	0	0	5956	1029	36	4	889	4	FKBP5	6	35565124	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1904569	35565124	135549943	145	93635											
FAM83B	222584	broad.mit.edu	37	chr6	54805670	54805670	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaaatggccatactgaatCaaataactatatatataaaa	21	11	3	6	0	1	1	1	1	0	0	1	1	1	1	1	1	3	0	1	1	12	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:54805670C>G	ENST00000306858.7	+	5	2017	c.1901C>G	c.(1900-1902)tCa>tGa	p.S634*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	634										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CATACTGAATCAAATAACTAT	0.383													28	66					0	0	0	0	G	54805670	C	G	54805670	4	3	486	1	0	0	0	0	0	1	0	0	5680	838	29	2	1915	2	FAM83B	6	54805670	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	19240546	54805670	116309397	146	93636											
DST	667	broad.mit.edu	37	chr6	56482994	56482994	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctggcttttctctttctcGagtggagcccctggtggctg	2	15	13	11	1	2	0	0	0	2	0	4	2	2	1	2	4	2	3	2	4	0	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:56482994G>C	ENST00000370765.6	-	23	5945	c.5838C>G	c.(5836-5838)ctC>ctG	p.L1946L	DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1343					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCTTTCTCGAGTGGAGCCC	0.468													26	64					0	0	0	0	C	56482994	G	C	56482994	2	2	486	1	0	0	0	0	0	0	0	1	4819	1045	37	3		3	DST	6	56482994	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1677324	56482994	114632073	147	93637											
BAI3	577	broad.mit.edu	37	chr6	69943301	69943301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattttggctcagcaacctaGagaaatagtaagtaacaaag	17	9	8	7	0	1	1	1	0	0	1	1	2	1	1	1	1	3	4	1	1	7	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:69943301G>C	ENST00000370598.1	+	18	3421	c.2600G>C	c.(2599-2601)aGa>aCa	p.R867T	BAI3_ENST00000238918.8_Missense_Mutation_p.R73T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	867	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGCAACCTAGAGAAATAGTA	0.443													38	104					0	0	0	0	C	69943301	G	C	69943301	3	2	486	1	0	0	0	0	1	0	0	0	1304	942	33	2	2662	2	BAI3	6	69943301	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	13460307	69943301	101171766	148	93638											
SMAP1	60682	broad.mit.edu	37	chr6	71501416	71501416	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctctgatgctcctcttCagcctttggtatcctctcct	3	16	5	17	0	4	1	1	1	3	0	8	1	7	1	6	1	2	2	6	1	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:71501416C>T	ENST00000370455.3	+	5	687	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	147					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TGCTCCTCTTCAGCCTTTGGT	0.403													33	108					0	0	0	0	T	71501416	C	T	71501416	4	4	486	1	0	0	0	0	0	1	0	0	14854	827	29	2	457	2	SMAP1	6	71501416	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1558115	71501416	99613651	149	93639											
NT5DC1	221294	broad.mit.edu	37	chr6	116558226	116558226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaacttctgaagaaaatGactggcaaacctgaacccaa	17	8	7	9	0	1	5	0	4	1	1	1	5	1	5	2	1	3	1	2	1	8	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:116558226G>A	ENST00000319550.4	+	9	982	c.900G>A	c.(898-900)atG>atA	p.M300I		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	300							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TGAAGAAAATGACTGGCAAAC	0.493													14	41					0	0	0	0	A	116558226	G	A	116558226	3	1	486	1	0	0	0	0	1	0	0	0	10761	1290	45	2	934	2	NT5DC1	6	116558226	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	45056810	116558226	54556841	150	93640											
NT5DC1	221294	broad.mit.edu	37	chr6	116565108	116565108	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatttacaagattctcttCaagcaattcaaaaacagctg	17	11	4	9	0	3	1	2	0	1	1	4	1	3	1	0	0	4	2	0	0	7	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:116565108C>G	ENST00000319550.4	+	12	1371	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	430							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGATTCTCTTCAAGCAATTCA	0.343													23	47					0	0	0	0	G	116565108	C	G	116565108	4	3	486	1	0	0	0	0	0	1	0	0	10761	838	29	2	1335	2	NT5DC1	6	116565108	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	6882	116565108	54549959	151	93641											
ROS1	6098	broad.mit.edu	37	chr6	117647566	117647566	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggttctgtaaattatttGaagtgctctttctgcaaaaa	11	17	7	6	0	4	1	0	1	4	0	4	1	4	1	0	1	2	4	0	1	6	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:117647566G>C	ENST00000368508.3	-	33	5576	c.5378C>G	c.(5377-5379)tCa>tGa	p.S1793*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.S1787*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1793	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TAAATTATTTGAAGTGCTCTT	0.323			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								9	30					0	0	0	0	C	117647566	G	C	117647566	4	2	486	1	0	0	0	0	0	1	0	0	13616	1294	45	2	1709	2	ROS1	6	117647566	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1082458	117647566	53467501	152	93642											
SLC35F1	222553	broad.mit.edu	37	chr6	118635386	118635386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcctgggccaggagaccGaagaggagcctcatgttcgt	9	6	14	12	2	1	2	1	0	0	2	2	5	1	3	5	3	2	1	5	3	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:118635386G>A	ENST00000360388.4	+	8	1399	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	400					transport	integral to membrane		p.E400K(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCAGGAGACCGAAGAGGAGCC	0.557													23	45					0	0	0	0	A	118635386	G	A	118635386	3	1	486	1	0	0	0	0	1	0	0	0	14676	1059	37	1	1228	1	SLC35F1	6	118635386	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	987820	118635386	52479681	153	93643											
SYNE1	23345	broad.mit.edu	37	chr6	152708344	152708344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggctctcgtgtgatcttCtgcctcagacaggatggact	8	11	12	10	1	4	2	1	1	3	1	5	4	4	4	1	3	1	1	1	3	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:152708344C>T	ENST00000367255.5	-	54	8951	c.8350G>A	c.(8350-8352)Gaa>Aaa	p.E2784K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E2784K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2791K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2791K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2823K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2784					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTGATCTTCTGCCTCAGAC	0.493										HNSCC(10;0.0054)			51	122					0	0	0	0	T	152708344	C	T	152708344	3	4	486	1	0	0	0	0	1	0	0	0	15536	922	32	2	18488	2	SYNE1	6	152708344	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	34072958	152708344	18406723	154	93644											
TIAM2	26230	broad.mit.edu	37	chr6	155469444	155469444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtggtgagcgacccaaaGaacaggaaagccatagagaa	16	4	12	9	2	0	3	0	1	0	2	1	6	1	4	3	2	3	0	3	2	5	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:155469444G>C	ENST00000461783.3	+	9	3277	c.2004G>C	c.(2002-2004)aaG>aaC	p.K668N	TIAM2_ENST00000318981.5_Missense_Mutation_p.K668N|TIAM2_ENST00000529824.2_Missense_Mutation_p.K668N|TIAM2_ENST00000367174.2_Missense_Mutation_p.K20N|TIAM2_ENST00000456144.1_Missense_Mutation_p.K668N|TIAM2_ENST00000360366.4_Missense_Mutation_p.K668N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	668					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCGACCCAAAGAACAGGAAAG	0.478													10	20					0	0	0	0	C	155469444	G	C	155469444	3	2	486	1	0	0	0	0	1	0	0	0	15985	933	33	2	2018	2	TIAM2	6	155469444	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2761100	155469444	15645623	155	93645											
AMZ1	155185	broad.mit.edu	37	chr7	2752119	2752119	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtgtgtcggagcccctCacccctgatgccgggagtca	7	7	12	15	2	2	1	2	1	0	0	3	3	2	3	6	2	2	0	6	2	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:2752119C>A	ENST00000312371.4	+	7	1472	c.1104C>A	c.(1102-1104)ctC>ctA	p.L368L	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	368							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGGAGCCCCTCACCCCTGATG	0.706													12	36					0.00010058	0.000101799	1	0	A	2752119	C	A	2752119	2	1	486	1	0	0	0	0	0	0	0	1	596	813	29	2		2	AMZ1	7	2752119	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		2752119	156386544	156	93646											
PMS2	5395	broad.mit.edu	37	chr7	6048638	6048638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgctcacctcgagctctCagctcgctccatggatgcaa	7	8	8	18	3	2	0	2	0	1	0	6	2	3	1	4	1	3	5	4	1	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:6048638C>T	ENST00000265849.7	-	1	118	c.13G>A	c.(13-15)Gag>Aag	p.E5K	PMS2_ENST00000406569.3_Missense_Mutation_p.E5K|PMS2_ENST00000382321.4_Missense_Mutation_p.E5K|PMS2_ENST00000469652.1_5'UTR	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	5					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCGAGCTCTCAGCTCGCTCC	0.652			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	120					0	0	0	0	T	6048638	C	T	6048638	3	4	486	1	0	0	0	0	1	0	0	0	12215	835	29	2	2635	2	PMS2	7	6048638	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3296519	6048638	153090025	157	93647											
ZNF107	51427	broad.mit.edu	37	chr7	64166960	64166960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaattttcaaattcaaataGatataagagaagacatacag	21	11	5	4	0	2	3	2	0	0	3	2	4	2	3	0	0	1	0	0	0	9	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:64166960G>C	ENST00000395391.1	+	4	1653	c.278G>C	c.(277-279)aGa>aCa	p.R93T	ZNF107_ENST00000423627.1_Missense_Mutation_p.R93T|ZNF107_ENST00000344930.3_Missense_Mutation_p.R93T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATTCAAATAGATATAAGAGA	0.308													24	53					0	0	0	0	C	64166960	G	C	64166960	3	2	486	1	0	0	0	0	1	0	0	0	17810	942	33	2	284	2	ZNF107	7	64166960	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	58118322	64166960	94971703	158	93648											
VPS37D	155382	broad.mit.edu	37	chr7	73085501	73085501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgcccagccggcccccaCctcggctgctgatcccccca	4	7	8	22	2	1	1	0	1	1	0	3	1	2	1	8	2	3	2	8	2	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:73085501C>T	ENST00000324941.4	+	4	685	c.551C>T	c.(550-552)aCc>aTc	p.T184I	VPS37D_ENST00000451519.1_Missense_Mutation_p.T99I	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	184					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGGCCCCCACCTCGGCTGCT	0.741													5	12					0	0	0	0	T	73085501	C	T	73085501	3	4	486	1	0	0	0	0	1	0	0	0	17304	507	18	4	565	4	VPS37D	7	73085501	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	8918541	73085501	86053162	159	93649											
C7orf63	79846	broad.mit.edu	37	chr7	89884785	89884785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtcatcaaactcctcgaaGagactgataaagtgagtaag	15	9	10	7	1	2	3	2	2	0	1	4	5	3	3	1	0	1	1	1	0	5	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:89884785G>C	ENST00000389297.4	+	2	420	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	C7orf63_ENST00000497910.1_Missense_Mutation_p.E57Q|C7orf63_ENST00000316089.8_Missense_Mutation_p.E57Q|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	57							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACTCCTCGAAGAGACTGATAA	0.338													95	177					0	0	0	0	C	89884785	G	C	89884785	3	2	486	1	0	0	0	0	1	0	0	0	2432	943	33	2	175	2	C7orf63	7	89884785	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	16799284	89884785	69253878	160	93650											
HEPACAM2	253012	broad.mit.edu	37	chr7	92818541	92818541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttccttaaaatgtttcttCagaatttcactcgaatgtac	11	18	4	8	1	3	1	2	0	1	1	5	2	4	1	1	0	1	2	1	0	5	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:92818541C>T	ENST00000440868.1	-	8	1417	c.1367G>A	c.(1366-1368)tGa>tAa	p.*456*	HEPACAM2_ENST00000341723.4_3'UTR|HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000394468.2_3'UTR|HEPACAM2_ENST00000492616.1_5'UTR			A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AATGTTTCTTCAGAATTTCAC	0.343													18	42					0	0	0	0	T	92818541	C	T	92818541	2	4	486	1	0	0	0	0	0	0	0	1	7103	841	29	2		2	HEPACAM2	7	92818541	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2933756	92818541	66320122	161	93651											
ASNS	440	broad.mit.edu	37	chr7	97482676	97482676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagaaaatcgatgatctaGaaatgggactctcagttcaa	16	9	10	6	1	3	3	2	1	2	2	5	6	3	5	0	2	0	1	0	2	6	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:97482676G>C	ENST00000175506.4	-	12	1789	c.1261C>G	c.(1261-1263)Cta>Gta	p.L421V	ASNS_ENST00000437628.1_Missense_Mutation_p.L338V|ASNS_ENST00000394308.3_Missense_Mutation_p.L421V|ASNS_ENST00000394309.3_Missense_Mutation_p.L421V|ASNS_ENST00000455086.1_Missense_Mutation_p.L338V|ASNS_ENST00000422745.1_Missense_Mutation_p.L400V|ASNS_ENST00000444334.1_Missense_Mutation_p.L400V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	421	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGATGATCTAGAAATGGGACT	0.378													36	93					0	0	0	0	C	97482676	G	C	97482676	3	2	486	1	0	0	0	0	1	0	0	0	1052	933	33	2	436	2	ASNS	7	97482676	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	4664135	97482676	61655987	162	93652											
UFSP1	402682	broad.mit.edu	37	chr7	100486564	100486564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacctcttgccagcccAcccacccagcagcctgtagt	8	7	6	20	0	2	0	1	0	1	0	2	0	2	0	6	0	4	2	6	0	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:100486564A>G	ENST00000388761.2	-	1	775	c.329T>C	c.(328-330)gTg>gCg	p.V110A		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	110										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTGCCAGCCCACCCACCCAGC	0.582													38	98					0	0	0	0	G	100486564	A	G	100486564	3	3	486	1	0	0	0	0	1	0	0	0	17033	159	6	5	103	5	UFSP1	7	100486564	Missense_Mutation	SNP	A	TCGA-T2-A6X2-01A-12D-A34J-08	3003888	100486564	58652099	163	93653											
RELN	5649	broad.mit.edu	37	chr7	103206813	103206813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtttgagagctgtcattCattcctataagaacatcatc	12	13	6	10	0	3	2	3	1	0	2	5	3	4	2	2	0	2	2	2	0	3	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:103206813C>T	ENST00000424685.2	-	33	4953	c.4794G>A	c.(4792-4794)atG>atA	p.M1598I	RELN_ENST00000343529.5_Missense_Mutation_p.M1598I|RELN_ENST00000428762.1_Missense_Mutation_p.M1598I			P78509	RELN_HUMAN	reelin	1598					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGTCATTCATTCCTATAA	0.393													30	95					0	0	0	0	T	103206813	C	T	103206813	3	4	486	1	0	0	0	0	1	0	0	0	13302	826	29	2	5720	2	RELN	7	103206813	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2720249	103206813	55931850	164	93654											
PUS7	54517	broad.mit.edu	37	chr7	105148734	105148734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctcatcttccaactgagCctcagaattctttccacctt	8	15	3	15	0	4	2	2	1	2	1	7	2	7	2	5	0	2	0	5	0	2	5	rs141121953		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:105148734C>A	ENST00000356362.2	-	2	440	c.226G>T	c.(226-228)Gct>Tct	p.A76S	PUS7_ENST00000469408.1_Missense_Mutation_p.A76S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	76					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCCAACTGAGCCTCAGAATTC	0.493													52	152					4.88482e-21	5.14138e-21	1	0	A	105148734	C	A	105148734	3	1	486	1	0	0	0	0	1	0	0	0	12915	739	26	4	1819	4	PUS7	7	105148734	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1941921	105148734	53989929	165	93655											
C7orf60	154743	broad.mit.edu	37	chr7	112579651	112579651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgcgctgtttaccttctCggtacttcttgcggagccgc	4	12	11	14	5	2	0	0	0	2	0	3	1	2	1	2	2	5	3	2	2	2	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:112579651C>T	ENST00000297145.4	-	1	320	c.155G>A	c.(154-156)cGa>cAa	p.R52Q		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	52										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTTACCTTCTCGGTACTTCTT	0.617													19	60					0	0	0	0	T	112579651	C	T	112579651	3	4	486	1	0	0	0	0	1	0	0	0	2430	884	31	1	1082	1	C7orf60	7	112579651	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	7430917	112579651	46559012	166	93656											
ZNF800	168850	broad.mit.edu	37	chr7	127014111	127014111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccctttaattcattctgtgGagaatgggtaatggaagggg	10	13	13	5	0	2	1	1	0	1	1	3	3	3	2	1	5	0	1	1	5	4	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:127014111G>A	ENST00000393313.1	-	5	1870	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	ZNF800_ENST00000265827.3_Missense_Mutation_p.P427S|ZNF800_ENST00000393312.1_Missense_Mutation_p.P427S			Q2TB10	ZN800_HUMAN	zinc finger protein 800	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						TCATTCTGTGGAGAATGGGTA	0.363													32	84					0	0	0	0	A	127014111	G	A	127014111	3	1	486	1	0	0	0	0	1	0	0	0	18262	1174	41	2	723	2	ZNF800	7	127014111	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	14434460	127014111	32124552	167	93657											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138711580	138711580	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcgaaggtgatgaattatCtacaaagaggaaagggataa	18	8	12	3	1	1	3	0	2	1	1	2	6	1	5	0	3	1	0	0	3	7	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:138711580C>G	ENST00000275766.1	-	4	772		c.e4-1			NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like											NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GATGAATTATCTACAAAGAGG	0.502													16	31					0	0	0	0	G	138711580	C	G	138711580	5	3	486	1	0	0	0	0	0	0	1	0	17671	927	32	2	150	2	ZC3HAV1L	7	138711580	Splice_Site	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	11697469	138711580	20427083	168	93658											
ZNF862	643641	broad.mit.edu	37	chr7	149559392	149559392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggttcaaggccatgaaccGaatcaggaccgatgagagga	13	5	15	8	2	2	2	2	2	0	1	2	7	2	4	3	5	1	1	3	5	3	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:149559392G>A	ENST00000223210.4	+	7	3388	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1048					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCATGAACCGAATCAGGACC	0.602													3	37					0	0	0	0	A	149559392	G	A	149559392	3	1	486	1	0	0	0	0	1	0	0	0	18288	1058	37	1	3169	1	ZNF862	7	149559392	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	10847812	149559392	9579271	169	93659											
BMP1	649	broad.mit.edu	37	chr8	22035427	22035427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccctgggggagacctatGacttcgacagcatcatgcat	10	9	11	11	1	1	2	1	1	0	1	3	4	2	2	2	2	2	2	2	2	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:22035427G>A	ENST00000306385.5	+	6	1463	c.793G>A	c.(793-795)Gac>Aac	p.D265N	BMP1_ENST00000397816.3_Missense_Mutation_p.D265N|BMP1_ENST00000306349.8_Missense_Mutation_p.D265N|BMP1_ENST00000397814.3_Missense_Mutation_p.D265N|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	265	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAGACCTATGACTTCGACAG	0.602													71	159					0	0	0	0	A	22035427	G	A	22035427	3	1	486	1	0	0	0	0	1	0	0	0	1461	1290	45	2	815	2	BMP1	8	22035427	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		22035427	124328595	170	93660											
NEFM	4741	broad.mit.edu	37	chr8	24775451	24775451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggcaaagtcaaaagcaGaagtggggaaaggtgaacag	19	3	15	4	0	1	3	1	1	0	2	1	4	1	4	0	4	2	2	0	4	7	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:24775451G>A	ENST00000221166.5	+	3	2865	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	NEFM_ENST00000437366.2_Missense_Mutation_p.E656K|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E319K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	695	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gtcaaaagcagaagtggggaa	0.448													17	39					0	0	0	0	A	24775451	G	A	24775451	3	1	486	1	0	0	0	0	1	0	0	0	10386	943	33	2	2093	2	NEFM	8	24775451	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2740024	24775451	121588571	171	93661											
IKBKB	3551	broad.mit.edu	37	chr8	42183613	42183613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacctgagccagccaagaaGaggtaggtcctccttagcag	11	8	11	11	0	0	3	0	1	0	2	2	3	2	3	5	2	4	2	5	2	5	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:42183613G>C	ENST00000520810.1	+	20	2298	c.2112G>C	c.(2110-2112)aaG>aaC	p.K704N	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.K645N|IKBKB_ENST00000379708.3_Missense_Mutation_p.K481N|IKBKB_ENST00000520835.1_Missense_Mutation_p.K702N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	704					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CAGCCAAGAAGAGGTAGGTCC	0.562													29	48					0	0	0	0	C	42183613	G	C	42183613	3	2	486	1	0	0	0	0	1	0	0	0	7664	933	33	2	2186	2	IKBKB	8	42183613	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	17408162	42183613	104180409	172	93662											
THAP1	55145	broad.mit.edu	37	chr8	42693377	42693377	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagagattaacaggggtctGaagaggcggcattagtaatc	13	9	14	5	1	1	4	0	2	1	2	2	5	1	4	0	4	1	2	0	4	4	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:42693377G>A	ENST00000254250.3	-	3	600	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	124					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAGGGGTCTGAAGAGGCGGC	0.483													65	136					0	0	0	0	A	42693377	G	A	42693377	4	1	486	1	0	0	0	0	0	1	0	0	15935	1299	45	2	275	2	THAP1	8	42693377	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	509764	42693377	103670645	173	93663											
RB1CC1	9821	broad.mit.edu	37	chr8	53596249	53596249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgatcacataagatcatttCtttgttaaaaagaaaaattg	18	13	5	5	1	3	2	2	0	1	2	3	3	3	2	0	0	0	1	0	0	6	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:53596249C>G	ENST00000025008.5	-	5	752	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	RB1CC1_ENST00000435644.2_Missense_Mutation_p.E77Q|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E77Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	77					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAGATCATTTCTTTGTTAAAA	0.308													54	43					0	0	0	0	G	53596249	C	G	53596249	3	3	486	1	0	0	0	0	1	0	0	0	13181	922	32	2	4635	2	RB1CC1	8	53596249	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	10902872	53596249	92767773	174	93664											
PENK	5179	broad.mit.edu	37	chr8	57354478	57354478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagaaggcagtttaccttCacattccattacgcaagcct	12	10	7	12	1	1	1	1	0	0	1	2	2	2	1	3	1	3	3	3	1	4	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:57354478C>T	ENST00000314922.3	-	2	233	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.E53K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	53					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGTTTACCTTCACATTCCATT	0.423													78	75					0	0	0	0	T	57354478	C	T	57354478	3	4	486	1	0	0	0	0	1	0	0	0	11798	835	29	2	650	2	PENK	8	57354478	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3758229	57354478	89009544	175	93665											
CHD7	55636	broad.mit.edu	37	chr8	61736513	61736513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgctgtgtagtcattgatGaagcccacaggctgaagaac	11	8	13	9	1	1	4	1	3	0	1	1	4	1	4	1	2	2	3	1	2	4	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:61736513G>A	ENST00000423902.2	+	13	3795	c.3316G>A	c.(3316-3318)Gaa>Aaa	p.E1106K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E1106K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1106	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTCATTGATGAAGCCCACAG	0.458													43	164					0	0	0	0	A	61736513	G	A	61736513	3	1	486	1	0	0	0	0	1	0	0	0	3359	1291	45	2	3362	2	CHD7	8	61736513	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	4382035	61736513	84627509	176	93666											
ARFGEF1	10565	broad.mit.edu	37	chr8	68178422	68178422	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgatttcactcatctcttGctctgagggtttttcctgac	5	19	7	10	0	4	3	2	3	2	0	6	3	5	3	1	1	1	2	1	1	0	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:68178422G>A	ENST00000262215.3	-	14	2331	c.1942C>T	c.(1942-1944)Caa>Taa	p.Q648*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.Q102*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	648					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTCATCTCTTGCTCTGAGGGT	0.353													23	69					0	0	0	0	A	68178422	G	A	68178422	4	1	486	1	0	0	0	0	0	1	0	0	854	1328	46	4	3711	4	ARFGEF1	8	68178422	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	6441909	68178422	78185600	177	93667											
PREX2	80243	broad.mit.edu	37	chr8	68982070	68982070	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatatctctattttacgtagGgtgtaagattatattgtcgt	10	19	8	4	2	1	1	0	0	1	1	3	1	1	1	0	1	1	2	0	1	8	10			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:68982070G>T	ENST00000288368.4	+	13	1721	c.1443_splice	c.e13-1	p.G482_splice	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	482					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTACGTAGGGTGTAAGATT	0.303													24	145					1.42536e-11	1.48462e-11	1	0	T	68982070	G	T	68982070	5	4	486	1	0	0	0	0	0	0	1	0	12557	1246	43	4	1494	4	PREX2	8	68982070	Splice_Site	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	803648	68982070	77381952	178	93668											
MED30	90390	broad.mit.edu	37	chr8	118541046	118541046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatggatcccattccagtcGaggtaattttttgtgataga	10	14	11	6	1	0	2	0	1	0	1	3	5	2	4	2	3	0	1	2	3	2	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:118541046G>A	ENST00000297347.3	+	2	498	c.334G>A	c.(334-336)Gag>Aag	p.E112K	MED30_ENST00000522839.1_Missense_Mutation_p.E112K	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	112					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CATTCCAGTCGAGGTAATTTT	0.388													31	170					0	0	0	0	A	118541046	G	A	118541046	3	1	486	1	0	0	0	0	1	0	0	0	9517	1059	37	1	340	1	MED30	8	118541046	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	49558976	118541046	27822976	179	93669											
SLA	6503	broad.mit.edu	37	chr8	134050925	134050925	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctctcgaaggccatagctGaaaagggactcgtctacccc	10	8	9	14	2	2	1	0	1	2	0	5	3	2	2	3	2	2	1	3	2	5	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:134050925G>A	ENST00000338087.5	-	9	1494	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLA_ENST00000524345.1_Silent_p.F117F|TG_ENST00000220616.4_Intron|SLA_ENST00000395352.3_Silent_p.F242F|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Silent_p.F198F|TG_ENST00000542445.1_Intron|SLA_ENST00000427060.2_Silent_p.F265F|TG_ENST00000519543.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	225	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCCATAGCTGAAAAGGGACT	0.512													21	100					0	0	0	0	A	134050925	G	A	134050925	2	1	486	1	0	0	0	0	0	0	0	1	14451	1281	45	2		2	SLA	8	134050925	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	15509879	134050925	12313097	180	93670											
NDRG1	10397	broad.mit.edu	37	chr8	134262697	134262697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatacctgttgtaggcattGatgaacaggtgcaggttgcc	10	11	12	8	0	0	2	0	2	0	0	0	2	0	2	2	3	4	5	2	3	4	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:134262697G>C	ENST00000414097.2	-	10	1551	c.684C>G	c.(682-684)atC>atG	p.I228M	NDRG1_ENST00000522476.1_Missense_Mutation_p.I162M|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.I228M|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000537882.1_Missense_Mutation_p.I147M|NDRG1_ENST00000354944.5_Missense_Mutation_p.I158M	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	228					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGTAGGCATTGATGAACAGGT	0.473			T	ERG	prostate								41	214					0	0	0	0	C	134262697	G	C	134262697	3	2	486	1	0	0	0	0	1	0	0	0	10321	1280	45	2	528	2	NDRG1	8	134262697	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	211772	134262697	12101325	181	93671											
BAI1	575	broad.mit.edu	37	chr8	143558507	143558507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggagtggtccccgtggAgcgtgtgctccagcacctgc	5	7	15	14	3	0	0	0	0	0	0	2	3	2	2	5	3	4	2	5	3	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:143558507A>G	ENST00000517894.1	+	5	1984	c.1090A>G	c.(1090-1092)Agc>Ggc	p.S364G	BAI1_ENST00000323289.5_Missense_Mutation_p.S364G			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	364	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCCCCGTGGAGCGTGTGCTC	0.711													28	17					0	0	0	0	G	143558507	A	G	143558507	3	3	486	1	0	0	0	0	1	0	0	0	1302	304	11	5	1104	5	BAI1	8	143558507	Missense_Mutation	SNP	A	TCGA-T2-A6X2-01A-12D-A34J-08	9295810	143558507	2805515	182	93672											
FBXL6	26233	broad.mit.edu	37	chr8	145582012	145582012	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggtggtaccccgagcccctCggcgccagccggtcccacca	6	4	12	19	4	0	0	0	0	0	0	2	1	1	0	8	4	3	1	8	4	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:145582012C>G	ENST00000331890.5	-	1	160	c.96G>C	c.(94-96)ccG>ccC	p.P32P	FBXL6_ENST00000455319.2_Silent_p.P32P	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	32	F-box.				proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGAGCCCCTCGGCGCCAGCC	0.776													4	15					0	0	0	0	G	145582012	C	G	145582012	2	3	486	1	0	0	0	0	0	0	0	1	5768	871	31	3		3	FBXL6	8	145582012	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2023505	145582012	782010	183	93673											
GLDC	2731	broad.mit.edu	37	chr9	6620209	6620209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagttctccagtaagttccGcaaaatcgtctgtggcactg	9	12	10	10	2	2	1	0	1	2	0	5	1	3	1	2	1	0	5	2	1	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:6620209G>A	ENST00000321612.6	-	3	595	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	149					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGTAAGTTCCGCAAAATCGTC	0.438													5	126					0	0	0	0	A	6620209	G	A	6620209	3	1	486	1	0	0	0	0	1	0	0	0	6484	1086	38	1	2709	1	GLDC	9	6620209	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		6620209	134593222	184	93674											
TAF1L	138474	broad.mit.edu	37	chr9	32630678	32630678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgtacaaatatccttctCaagttgagtcaaatgctcat	13	13	6	9	0	3	1	3	1	1	0	5	1	4	1	1	0	3	4	1	0	5	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:32630678C>G	ENST00000242310.4	-	1	4989	c.4900G>C	c.(4900-4902)Gag>Cag	p.E1634Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1634					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.E1634K(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATATCCTTCTCAAGTTGAGTC	0.448													81	147					0	0	0	0	G	32630678	C	G	32630678	3	3	486	1	0	0	0	0	1	0	0	0	15614	835	29	2	584	2	TAF1L	9	32630678	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	26010469	32630678	108582753	185	93675											
STOML2	30968	broad.mit.edu	37	chr9	35100058	35100058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catcttgactcgatcaagttCctcatcaagacttgcatctg	10	13	6	12	1	5	2	3	1	2	1	7	3	6	2	1	0	1	2	1	0	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:35100058C>G	ENST00000356493.5	-	10	1107	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	STOML2_ENST00000452248.2_Missense_Mutation_p.E304Q	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	349						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGATCAAGTTCCTCATCAAGA	0.542													58	130					0	0	0	0	G	35100058	C	G	35100058	3	3	486	1	0	0	0	0	1	0	0	0	15404	864	30	2	29	2	STOML2	9	35100058	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2469380	35100058	106113373	186	93676											
EXOSC3	51010	broad.mit.edu	37	chr9	37784017	37784017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatatatctccagatttaGctgtcactatgccaatcaca	13	13	5	10	0	3	2	2	1	1	1	4	2	3	2	2	0	2	1	2	0	6	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:37784017G>A	ENST00000327304.5	-	2	380	c.368C>T	c.(367-369)gCt>gTt	p.A123V	RP11-613M10.9_ENST00000540557.1_3'UTR|EXOSC3_ENST00000396521.3_Missense_Mutation_p.A123V|EXOSC3_ENST00000490516.1_5'UTR	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	123					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCCAGATTTAGCTGTCACTAT	0.368													33	89					0	0	0	0	A	37784017	G	A	37784017	3	1	486	1	0	0	0	0	1	0	0	0	5353	971	34	4	471	4	EXOSC3	9	37784017	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2683959	37784017	103429414	187	93677											
VPS13A	23230	broad.mit.edu	37	chr9	79934542	79934542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctttgcttgaacccttaGaaattgatcagactgaggat	12	12	9	8	0	1	5	1	3	0	2	1	6	1	6	2	1	3	1	2	1	3	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:79934542G>A	ENST00000360280.3	+	42	5628	c.5368G>A	c.(5368-5370)Gaa>Aaa	p.E1790K	VPS13A_ENST00000376634.4_Missense_Mutation_p.E1790K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E1751K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1790K|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1790					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAACCCTTAGAAATTGATCA	0.294													26	57					0	0	0	0	A	79934542	G	A	79934542	3	1	486	1	0	0	0	0	1	0	0	0	17285	943	33	2	5534	2	VPS13A	9	79934542	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	42150525	79934542	61278889	188	93678											
NOL8	55035	broad.mit.edu	37	chr9	95077661	95077661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagaaagctcacagttttCtctatttttgaaagaagttt	13	16	6	6	0	3	3	2	1	1	2	4	3	3	3	0	0	1	3	0	0	4	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:95077661C>T	ENST00000545558.1	-	7	1738	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	NOL8_ENST00000542053.1_Missense_Mutation_p.E348K|NOL8_ENST00000358855.4_Missense_Mutation_p.E348K|NOL8_ENST00000442668.2_Missense_Mutation_p.E416K|NOL8_ENST00000535387.1_Missense_Mutation_p.E416K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	416					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACAGTTTTCTCTATTTTTG	0.308													12	29					0	0	0	0	T	95077661	C	T	95077661	3	4	486	1	0	0	0	0	1	0	0	0	10597	922	32	2	2301	2	NOL8	9	95077661	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	15143119	95077661	46135770	189	93679											
C9orf3	84909	broad.mit.edu	37	chr9	97522183	97522183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttgaaagtcaagtcattGaggggaccatagtgcttttc	11	14	10	6	0	2	2	2	2	0	0	3	3	2	3	1	2	1	1	1	2	3	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:97522183G>A	ENST00000375315.2	+	1	118	c.118G>A	c.(118-120)Gag>Aag	p.E40K	C9orf3_ENST00000297979.5_Missense_Mutation_p.E40K|C9orf3_ENST00000277198.2_Missense_Mutation_p.E40K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	40					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TCAAGTCATTGAGGGGACCAT	0.458													20	77					0	0	0	0	A	97522183	G	A	97522183	3	1	486	1	0	0	0	0	1	0	0	0	2502	1291	45	2	120	2	C9orf3	9	97522183	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2444522	97522183	43691248	190	93680											
HABP4	22927	broad.mit.edu	37	chr9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccgagagggggtatgCgcggcagaggcagaggtggc	8	3	22	8	3	0	3	0	0	0	3	0	5	0	3	1	7	1	3	1	7	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483													5	163					0	0	0	0	T	99227683	C	T	99227683	3	4	486	1	0	0	0	0	1	0	0	0	6989	768	27	1	587	1	HABP4	9	99227683	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1705500	99227683	41985748	191	93681											
TEX10	54881	broad.mit.edu	37	chr9	103109132	103109132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaagtccttcactttctCtcaacctactggatccatct	8	14	4	15	0	4	1	2	1	2	0	7	2	6	2	4	1	2	0	4	1	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:103109132C>T	ENST00000374902.4	-	3	913	c.737G>A	c.(736-738)aGa>aAa	p.R246K	TEX10_ENST00000537512.1_Missense_Mutation_p.R181K|TEX10_ENST00000535814.1_Missense_Mutation_p.R249K	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	246						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCACTTTCTCTCAACCTACT	0.453													50	90					0	0	0	0	T	103109132	C	T	103109132	3	4	486	1	0	0	0	0	1	0	0	0	15866	913	32	2	2104	2	TEX10	9	103109132	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3881449	103109132	38104299	192	93682											
WDR31	114987	broad.mit.edu	37	chr9	116094225	116094225	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttgagtttgctttgctgTttccccatcacgacacaaaa	9	15	7	10	1	1	1	1	1	0	0	2	2	2	1	2	0	2	5	2	0	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:116094225T>C	ENST00000374193.4	-	3	324	c.78A>G	c.(76-78)aaA>aaG	p.K26K	WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000461942.1_Intron|WDR31_ENST00000341761.4_Silent_p.K26K	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	26										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						TGCTTTGCTGTTTCCCCATCA	0.478													36	75					0	0	0	0	C	116094225	T	C	116094225	2	2	486	1	0	0	0	0	0	0	0	1	17382	1722	60	5		5	WDR31	9	116094225	Silent	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	12985093	116094225	25119206	193	93683											
ODF2	4957	broad.mit.edu	37	chr9	131235288	131235288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgccaagcaggtcatGgccttgaaggataccatcgg	9	7	14	11	2	1	1	1	1	0	0	2	2	1	2	3	5	3	2	3	5	3	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:131235288G>A	ENST00000303890.5	+	9	1191	c.606G>A	c.(604-606)atG>atA	p.M202I	ODF2_ENST00000351030.3_Missense_Mutation_p.M221I|ODF2_ENST00000372796.4_Missense_Mutation_p.M226I|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000546203.1_Missense_Mutation_p.M207I|ODF2_ENST00000393533.2_Missense_Mutation_p.M226I|ODF2_ENST00000448249.3_Missense_Mutation_p.M145I|ODF2_ENST00000372814.3_Missense_Mutation_p.M270I|ODF2_ENST00000372791.3_Missense_Mutation_p.M207I|ODF2_ENST00000535026.1_Missense_Mutation_p.G111S|ODF2_ENST00000434106.2_Missense_Mutation_p.M226I|ODF2_ENST00000372807.5_Missense_Mutation_p.M221I|ODF2_ENST00000444119.2_Missense_Mutation_p.M202I	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	226					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGCAGGTCATGGCCTTGAAGG	0.602													14	43					0	0	0	0	A	131235288	G	A	131235288	3	1	486	1	0	0	0	0	1	0	0	0	10898	1348	47	4	755	4	ODF2	9	131235288	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	15141063	131235288	9978143	194	93684											
ODF2	4957	broad.mit.edu	37	chr9	131254734	131254734	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctccaatggaggacaaactCaaccaggcacacctcgaggt	13	5	10	13	1	1	0	1	0	0	0	3	3	2	2	3	4	2	2	3	4	3	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:131254734C>G	ENST00000303890.5	+	17	2079	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	ODF2_ENST00000351030.3_Silent_p.L517L|ODF2_ENST00000372796.4_Silent_p.L522L|ODF2_ENST00000546203.1_Silent_p.L503L|ODF2_ENST00000393533.2_Silent_p.L522L|ODF2_ENST00000448249.3_Silent_p.L441L|ODF2_ENST00000372814.3_Silent_p.L566L|ODF2_ENST00000372791.3_Silent_p.L503L|ODF2_ENST00000434106.2_Silent_p.L522L|ODF2_ENST00000372807.5_Silent_p.L517L|ODF2_ENST00000444119.2_Silent_p.L498L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	522					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGACAAACTCAACCAGGCAC	0.542													15	43					0	0	0	0	G	131254734	C	G	131254734	2	3	486	1	0	0	0	0	0	0	0	1	10898	813	29	2		2	ODF2	9	131254734	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	19446	131254734	9958697	195	93685											
NOTCH1	4851	broad.mit.edu	37	chr9	139401269	139401270	+	Frame_Shift_Ins	INS	-	-	C																															ggacaggcactcgttgacatINSccccctcacagcgctcaccc																										TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:139401269_139401270insC	ENST00000277541.6	-	23	3874_3875	c.3799_3800insG	c.(3799-3801)tgtfs	p.C1267fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1267	EGF-like 33.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCGTTGACATCCCCCTCACAG	0.658			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			18	21	---	---	---	---					C	139401270	-	C	139401269	7	5	486	1	0	1	1	0	0	0	0	0	10617	1435	50	0	3915	0	NOTCH1	9	139401269	Frame_Shift_Ins	INS	-	TCGA-T2-A6X2-01A-12D-A34J-08	8146535	139401269	1812162	196	93686											
MTPAP	55149	broad.mit.edu	37	chr10	30611428	30611428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttgtaatccatgcaccagGaatactacttgttagtgaat	13	14	7	7	0	0	1	0	1	0	0	1	2	1	2	2	1	3	3	2	1	6	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:30611428G>C	ENST00000358107.4	-	7	1500	c.1501C>G	c.(1501-1503)Cct>Gct	p.P501A	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.P371A			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	371					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATGCACCAGGAATACTACTT	0.428													31	58					0	0	0	0	C	30611428	G	C	30611428	3	2	486	1	0	0	0	0	1	0	0	0	10026	1174	41	2	653	2	MTPAP	10	30611428	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		30611428	104923319	197	93687											
CUL2	8453	broad.mit.edu	37	chr10	35360215	35360215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtttgttccatgtttcatCaaaatctactactcttggtt	10	18	5	8	0	4	0	2	0	2	0	5	0	5	0	1	1	2	4	1	1	5	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:35360215C>G	ENST00000374748.1	-	3	344	c.31G>C	c.(31-33)Gat>Cat	p.D11H	CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000537177.1_Missense_Mutation_p.D30H|CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000374746.1_Missense_Mutation_p.D11H|CUL2_ENST00000374742.1_Missense_Mutation_p.D11H|CUL2_ENST00000374749.3_Missense_Mutation_p.D11H|CUL2_ENST00000374751.3_Missense_Mutation_p.D11H			Q13617	CUL2_HUMAN	cullin 2	11					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGTTTCATCAAAATCTACT	0.348													32	64					0	0	0	0	G	35360215	C	G	35360215	3	3	486	1	0	0	0	0	1	0	0	0	4087	826	29	2	2286	2	CUL2	10	35360215	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4748787	35360215	100174532	198	93688											
CHCHD1	118487	broad.mit.edu	37	chr10	75542190	75542190	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcttcctcgattgtgccgcGagggctcaggtgaccgatgg	5	9	16	11	4	1	1	1	1	0	0	3	4	2	1	3	4	1	2	3	4	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:75542190G>C	ENST00000372837.3	+	2	263	c.234G>C	c.(232-234)gcG>gcC	p.A78A	CHCHD1_ENST00000372833.5_Silent_p.A78A			Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	78	CHCH.					nucleus				breast(1)	1	Prostate(51;0.0112)					ATTGTGCCGCGAGGGCTCAGG	0.537													16	66					0	0	0	0	C	75542190	G	C	75542190	2	2	486	1	0	0	0	0	0	0	0	1	3343	1045	37	3		3	CHCHD1	10	75542190	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	40181975	75542190	59992557	199	93689											
FAS	355	broad.mit.edu	37	chr10	90768721	90768721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaactttttttgtaactCtactgtatgtgaacactgtg	11	16	6	8	0	1	1	0	1	1	0	1	1	1	1	1	0	4	2	1	0	5	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:90768721C>G	ENST00000355740.2	+	4	630	c.410C>G	c.(409-411)tCt>tGt	p.S137C	FAS_ENST00000357339.2_Missense_Mutation_p.S137C|FAS_ENST00000352159.4_Missense_Mutation_p.S137C|FAS_ENST00000355279.2_Missense_Mutation_p.S137C|FAS_ENST00000313771.5_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	137					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TTTTGTAACTCTACTGTATGT	0.363													237	563					0	0	0	0	G	90768721	C	G	90768721	3	3	486	1	0	0	0	0	1	0	0	0	5726	913	32	2	424	2	FAS	10	90768721	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	15226531	90768721	44766026	200	93690											
FAS	355	broad.mit.edu	37	chr10	90770295	90770295	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctgtatttttttttctaGatgtgaacatggaatcatca	10	18	6	7	0	3	2	2	1	1	1	4	3	4	3	1	1	1	1	1	1	4	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:90770295G>C	ENST00000355740.2	+	5	663		c.e5-1		FAS_ENST00000357339.2_Splice_Site|FAS_ENST00000352159.4_Splice_Site|FAS_ENST00000355279.2_Splice_Site|FAS_ENST00000313771.5_Splice_Site	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor						activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TTTTTTTCTAGATGTGAACAT	0.348													17	39					0	0	0	0	C	90770295	G	C	90770295	5	2	486	1	0	0	0	0	0	0	1	0	5726	956	33	2	461	2	FAS	10	90770295	Splice_Site	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1574	90770295	44764452	201	93691											
KIF20B	9585	broad.mit.edu	37	chr10	91518641	91518641	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagacttctaaaatagTcagtagtcttttttgctatg	12	16	7	6	0	4	1	2	0	2	1	4	2	4	1	0	0	1	2	0	0	5	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:91518641T>G	ENST00000416354.1	+	27	4842		c.e27+2		KIF20B_ENST00000478929.1_Splice_Site|KIF20B_ENST00000371728.3_Splice_Site|KIF20B_ENST00000394289.2_Splice_Site|KIF20B_ENST00000260753.4_Splice_Site			Q96Q89	KI20B_HUMAN	kinesin family member 20B						cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCTAAAATAGTCAGTAGTCTT	0.279													53	89					0	0	0	0	G	91518641	T	G	91518641	5	3	486	1	0	0	0	0	0	0	1	0	8338	1681	58	5	4664	5	KIF20B	10	91518641	Splice_Site	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	748346	91518641	44016106	202	93692											
MYOF	26509	broad.mit.edu	37	chr10	95169456	95169456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcccctgactgcattGtccaacctgtcttcatcacc	7	10	7	17	0	3	1	2	1	1	0	4	1	4	1	6	1	2	1	6	1	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:95169456G>A	ENST00000371501.4	-	6	596	c.474C>T	c.(472-474)gaC>gaT	p.D158D	MYOF_ENST00000358334.5_Silent_p.D158D|MYOF_ENST00000371502.4_Silent_p.D158D|MYOF_ENST00000371489.1_Silent_p.D158D|MYOF_ENST00000359263.4_Silent_p.D158D			Q9NZM1	MYOF_HUMAN	myoferlin	158					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGACTGCATTGTCCAACCTGT	0.537													15	418					0	0	0	0	A	95169456	G	A	95169456	2	1	486	1	0	0	0	0	0	0	0	1	10159	1368	48	4		4	MYOF	10	95169456	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3650815	95169456	40365291	203	93693											
DNMBP	23268	broad.mit.edu	37	chr10	101646294	101646294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttatagaagtccaggagCttgtcaaagcgtttctgtac	11	12	10	8	1	2	1	1	0	1	1	3	2	3	2	1	1	3	4	1	1	5	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:101646294C>G	ENST00000342239.3	-	13	3544	c.3453G>C	c.(3451-3453)aaG>aaC	p.K1151N	DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000540316.1_Missense_Mutation_p.K63N|DNMBP_ENST00000543621.1_Missense_Mutation_p.K373N|DNMBP_ENST00000324109.4_Missense_Mutation_p.K1127N			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1127	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			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)		AGTCCAGGAGCTTGTCAAAGC	0.507													54	170					0	0	0	0	G	101646294	C	G	101646294	3	3	486	1	0	0	0	0	1	0	0	0	4710	796	28	4	1372	4	DNMBP	10	101646294	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	6476838	101646294	33888453	204	93694											
ACSL5	51703	broad.mit.edu	37	chr10	114172956	114172956	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtacagctgtggagccaGagttggattcttccaagggg	8	11	15	7	0	1	1	0	0	1	1	2	3	2	3	2	4	3	3	2	4	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:114172956G>C	ENST00000393081.1	+	12	1281	c.974G>C	c.(973-975)aGa>aCa	p.R325T	ACSL5_ENST00000369410.3_Missense_Mutation_p.R107T|ACSL5_ENST00000354273.4_Missense_Mutation_p.R325T|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.R325T|ACSL5_ENST00000356116.1_Missense_Mutation_p.R381T|ACSL5_ENST00000354655.4_Missense_Mutation_p.R325T	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	325					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGTGGAGCCAGAGTTGGATTC	0.483													46	134					0	0	0	0	C	114172956	G	C	114172956	3	2	486	1	0	0	0	0	1	0	0	0	180	942	33	2	1188	2	ACSL5	10	114172956	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	12526662	114172956	21361791	205	93695											
NHLRC2	374354	broad.mit.edu	37	chr10	115618363	115618363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatagtcgtccttgatttCttcacctactgctgcataaa	12	14	5	10	1	2	1	1	1	1	0	4	1	3	1	2	0	3	2	2	0	6	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:115618363C>T	ENST00000369301.3	+	2	467	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	85	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TCCTTGATTTCTTCACCTACT	0.343													46	109					0	0	0	0	T	115618363	C	T	115618363	2	4	486	1	0	0	0	0	0	0	0	1	10476	912	32	2		2	NHLRC2	10	115618363	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1445407	115618363	19916384	206	93696											
HMX2	3167	broad.mit.edu	37	chr10	124909241	124909241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgcgggacggcggcgctGagcggcaggccggcgcggcc	3	1	22	15	9	0	1	0	1	0	0	0	2	0	2	3	8	1	2	3	8	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:124909241G>A	ENST00000339992.3	+	2	681	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	142					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CGGCGGCGCTGAGCGGCAGGC	0.672													9	10					0	0	0	0	A	124909241	G	A	124909241	3	1	486	1	0	0	0	0	1	0	0	0	7297	1291	45	2	430	2	HMX2	10	124909241	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	9290878	124909241	10625506	207	93697											
TUBGCP2	10844	broad.mit.edu	37	chr10	135094861	135094861	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggtccagcaggtgggctGagaagttcttgtcaaacttg	9	10	15	7	0	2	1	1	1	1	1	3	3	3	2	1	4	2	3	1	4	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:135094861G>C	ENST00000368563.2	-	17	2845	c.2489C>G	c.(2488-2490)tCa>tGa	p.S830*	TUBGCP2_ENST00000252936.3_Nonsense_Mutation_p.S830*|TUBGCP2_ENST00000417178.2_Nonsense_Mutation_p.S700*|TUBGCP2_ENST00000543663.1_Nonsense_Mutation_p.S858*|TUBGCP2_ENST00000368562.1_Nonsense_Mutation_p.S423*	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	830					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CAGGTGGGCTGAGAAGTTCTT	0.617													29	50					0	0	0	0	C	135094861	G	C	135094861	4	2	486	1	0	0	0	0	0	1	0	0	16862	1294	45	2	227	2	TUBGCP2	10	135094861	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	10185620	135094861	439886	208	93698											
PKP3	11187	broad.mit.edu	37	chr11	404318	404318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagctccaccgtgacttcCgggcggtacgtttcccgagc	7	8	11	15	5	0	1	0	1	0	0	3	2	3	1	4	2	3	3	4	2	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:404318C>T	ENST00000331563.2	+	12	2429	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	785					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		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)		CCGTGACTTCCGGGCGGTACG	0.667													20	70					0	0	0	0	T	404318	C	T	404318	3	4	486	1	0	0	0	0	1	0	0	0	12058	643	23	1	2399	1	PKP3	11	404318	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		404318	134602198	209	93699											
IRF7	3665	broad.mit.edu	37	chr11	614918	614918	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcgcagcggaagttggttttCcagccggcgcgctccgcagt	5	8	15	13	6	0	0	0	0	0	0	2	1	2	1	3	3	2	5	3	3	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:614918C>G	ENST00000397566.1	-	2	721	c.312G>C	c.(310-312)tgG>tgC	p.W104C	IRF7_ENST00000348655.6_Missense_Mutation_p.W91C|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.W91C|IRF7_ENST00000397574.2_Missense_Mutation_p.W91C|IRF7_ENST00000330243.5_Missense_Mutation_p.W104C	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	91					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTGGTTTTCCAGCCGGCGC	0.716													3	10					0	0	0	0	G	614918	C	G	614918	3	3	486	1	0	0	0	0	1	0	0	0	7888	856	30	2	1270	2	IRF7	11	614918	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	210600	614918	134391598	210	93700											
BRSK2	9024	broad.mit.edu	37	chr11	1463797	1463797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcagactttggcatggcgtCcctgcaggttggcgacagcc	6	8	14	13	3	0	1	0	0	0	1	1	2	1	1	2	4	2	4	2	4	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:1463797C>T	ENST00000308219.9	+	5	877	c.491C>T	c.(490-492)tCc>tTc	p.S164F	BRSK2_ENST00000528710.1_Missense_Mutation_p.S104F|BRSK2_ENST00000531197.1_Missense_Mutation_p.S164F|BRSK2_ENST00000382179.1_Missense_Mutation_p.S210F|BRSK2_ENST00000528841.1_Missense_Mutation_p.S164F|BRSK2_ENST00000526678.1_Missense_Mutation_p.S164F|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000308230.5_Missense_Mutation_p.S164F	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	164	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCATGGCGTCCCTGCAGGTT	0.627													19	64					0	0	0	0	T	1463797	C	T	1463797	3	4	486	1	0	0	0	0	1	0	0	0	1532	855	30	2	509	2	BRSK2	11	1463797	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	848879	1463797	133542719	211	93701											
TRPM5	29850	broad.mit.edu	37	chr11	2443494	2443494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggccggcaggtgccactCagcaagcagcaggtcaaaga	11	3	16	11	1	2	1	2	0	0	1	2	1	2	1	2	5	4	4	2	5	2	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:2443494C>G	ENST00000452833.1	-	2	183	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	TRPM5_ENST00000155858.6_Missense_Mutation_p.E59Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.E59Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.E59Q			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	59						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGTGCCACTCAGCAAGCAGC	0.662													33	73					0	0	0	0	G	2443494	C	G	2443494	3	3	486	1	0	0	0	0	1	0	0	0	16684	835	29	2	3414	2	TRPM5	11	2443494	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	979697	2443494	132563022	212	93702											
CNGA4	1262	broad.mit.edu	37	chr11	6260439	6260439	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaccagaccacagaaccatGagccaggacaccaaagtgaa	17	2	9	13	0	0	4	0	2	0	2	0	5	0	5	5	1	2	1	5	1	3	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:6260439G>A	ENST00000379936.2	+	1	118	c.3G>A	c.(1-3)atG>atA	p.M1I	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	1					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGAACCATGAGCCAGGACA	0.577													19	54					0	0	0	0	A	6260439	G	A	6260439	1	1	486	1	0	0	0	0	0	0	0	0	3629	1290	45	2		2	CNGA4	11	6260439	Translation_Start_Site	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3816945	6260439	128746077	213	93703											
CCKBR	887	broad.mit.edu	37	chr11	6291536	6291536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgctgcagtgcgtgcatCgctggcccagtgcgcgggtc	3	9	17	12	4	0	0	0	0	0	0	2	0	0	0	1	2	5	4	1	2	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:6291536C>T	ENST00000525462.1	+	3	625	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	CCKBR_ENST00000532715.1_Missense_Mutation_p.R124C|CCKBR_ENST00000334619.2_Missense_Mutation_p.R208C			P32239	GASR_HUMAN	cholecystokinin B receptor	168					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			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)	GTGCGTGCATCGCTGGCCCAG	0.587													37	100					0	0	0	0	T	6291536	C	T	6291536	3	4	486	1	0	0	0	0	1	0	0	0	2908	884	31	1	632	1	CCKBR	11	6291536	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	31097	6291536	128714980	214	93704											
GTF2H1	2965	broad.mit.edu	37	chr11	18354640	18354640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatggcaacctcatctgaaGaagttttgctgattgtaaag	12	12	9	8	0	2	3	1	2	1	1	2	3	2	3	2	1	2	4	2	1	5	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:18354640G>C	ENST00000265963.4	+	2	179	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.E7Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	7					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTCATCTGAAGAAGTTTTGCT	0.408								Nucleotide excision repair (NER)					32	75					0	0	0	0	C	18354640	G	C	18354640	3	2	486	1	0	0	0	0	1	0	0	0	6910	943	33	2	21	2	GTF2H1	11	18354640	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	12063104	18354640	116651876	215	93705											
PAMR1	25891	broad.mit.edu	37	chr11	35454378	35454378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccttgtctaggagcttcagGatggcgatgtcagcatcaag	9	10	13	9	1	4	0	3	0	1	0	4	3	4	2	1	3	2	2	1	3	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:35454378G>A	ENST00000378880.2	-	11	2134	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PAMR1_ENST00000278360.3_Silent_p.I580I|PAMR1_ENST00000378878.3_Silent_p.I452I|PAMR1_ENST00000532848.1_Silent_p.I523I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	563	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGAGCTTCAGGATGGCGATGT	0.547													14	58					0	0	0	0	A	35454378	G	A	35454378	2	1	486	1	0	0	0	0	0	0	0	1	11484	1164	41	2		2	PAMR1	11	35454378	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	17099738	35454378	99552138	216	93706											
OR4C3	256144	broad.mit.edu	37	chr11	48346918	48346918	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcattctgctcacagtGatggcttatgaccgctatgt	9	13	10	9	1	3	3	2	2	1	1	3	4	3	3	1	1	1	3	1	1	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:48346918G>T	ENST00000319856.4	+	1	447	c.426G>T	c.(424-426)gtG>gtT	p.V142V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGCTCACAGTGATGGCTTATG	0.498													10	297					6.50621e-10	6.69325e-10	1	0	T	48346918	G	T	48346918	2	4	486	1	0	0	0	0	0	0	0	1	11121	1277	45	2		2	OR4C3	11	48346918	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	12892540	48346918	86659598	217	93707											
OR5D13	390142	broad.mit.edu	37	chr11	55541412	55541412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactcacatattttcttcttGacttatcgttttgtgaatct	8	21	4	8	1	4	2	1	2	3	0	5	2	4	2	0	0	1	1	0	0	4	9			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:55541412G>C	ENST00000361760.1	+	1	499	c.499G>C	c.(499-501)Gac>Cac	p.D167H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTTTCTTCTTGACTTATCGTT	0.423													48	127					0	0	0	0	C	55541412	G	C	55541412	3	2	486	1	0	0	0	0	1	0	0	0	11225	1290	45	2	501	2	OR5D13	11	55541412	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	7194494	55541412	79465104	218	93708											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087578	57087578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaggggtcttgctgtgctCttcccggcactctgctggag	3	12	13	13	1	4	0	1	0	3	0	5	1	5	1	1	4	3	4	1	4	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:57087578C>G	ENST00000532437.1	-	2	1014	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E235Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	235	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTGCTGTGCTCTTCCCGGCAC	0.617													20	82					0	0	0	0	G	57087578	C	G	57087578	3	3	486	1	0	0	0	0	1	0	0	0	16414	922	32	2	4522	2	TNKS1BP1	11	57087578	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1546166	57087578	77918938	219	93709											
OR5B12	390191	broad.mit.edu	37	chr11	58207325	58207325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgataaaggctacaaagaaGaagaattgtgtggcacaagc	17	7	12	5	0	0	4	0	1	0	3	0	4	0	4	0	2	2	2	0	2	8	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:58207325G>A	ENST00000302572.2	-	1	321	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTACAAAGAAGAAGAATTGTG	0.448													33	85					0	0	0	0	A	58207325	G	A	58207325	2	1	486	1	0	0	0	0	0	0	0	1	11219	933	33	2		2	OR5B12	11	58207325	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1119747	58207325	76799191	220	93710											
PATL1	219988	broad.mit.edu	37	chr11	59406558	59406558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagttcagtttctgccggtCaacatagcgagaaaagaggg	13	8	12	8	2	3	2	2	0	1	2	3	3	3	2	1	2	3	2	1	2	5	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:59406558C>G	ENST00000300146.9	-	18	2338	c.2254G>C	c.(2254-2256)Gac>Cac	p.D752H	AP000442.1_ENST00000531108.1_RNA|AP000442.1_ENST00000531311.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	752	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGCCGGTCAACATAGCGA	0.463													24	50					0	0	0	0	G	59406558	C	G	59406558	3	3	486	1	0	0	0	0	1	0	0	0	11546	826	29	2	66	2	PATL1	11	59406558	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1199233	59406558	75599958	221	93711											
TMEM138	51524	broad.mit.edu	37	chr11	61131945	61131945	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctttgtcaattccttctCagaactgctccaaaagactc	10	13	4	14	0	3	2	2	0	2	2	7	2	5	2	3	0	2	1	3	0	4	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:61131945C>G	ENST00000542946.1	+	2	282	c.83C>G	c.(82-84)tCa>tGa	p.S28*	TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000278826.6_Nonsense_Mutation_p.S28*			Q9NPI0	TM138_HUMAN	transmembrane protein 138	28						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						AATTCCTTCTCAGAACTGCTC	0.502													34	71					0	0	0	0	G	61131945	C	G	61131945	4	3	486	1	0	0	0	0	0	1	0	0	16147	838	29	2	85	2	TMEM138	11	61131945	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1725387	61131945	73874571	222	93712											
AHNAK	79026	broad.mit.edu	37	chr11	62295105	62295105	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagttcacatccacttCtgggccctctcctttgaagc	7	11	9	14	0	3	1	1	1	2	0	5	1	4	1	3	2	1	2	3	2	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62295105C>A	ENST00000378024.4	-	5	7058	c.6784G>T	c.(6784-6786)Gaa>Taa	p.E2262*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2262					nervous system development	nucleus	protein binding			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)				ACATCCACTTCTGGGCCCTCT	0.532													216	517					1.95632e-99	2.10778e-99	1	0	A	62295105	C	A	62295105	4	1	486	1	0	0	0	0	0	1	0	0	414	922	32	2	11008	2	AHNAK	11	62295105	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1163160	62295105	72711411	223	93713											
TMEM223	79064	broad.mit.edu	37	chr11	62558364	62558364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccggagagagaagagaaGaccagcaccgagtacgaggg	16	1	16	8	3	0	5	0	0	0	5	0	10	0	5	3	2	2	2	3	2	3	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62558364G>C	ENST00000307366.7	-	2	366	c.340C>G	c.(340-342)Ctt>Gtt	p.L114V	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	114						integral to membrane											GAGAAGAGAAGACCAGCACCG	0.597													5	17					0	0	0	0	C	62558364	G	C	62558364	3	2	486	1	0	0	0	0	1	0	0	0	16240	942	33	2	272	2	TMEM223	11	62558364	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	263259	62558364	72448152	224	93714											
NXF1	10482	broad.mit.edu	37	chr11	62561766	62561766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttcatgccagactgggtaGagaatgcttgcaacatttcc	10	11	11	9	0	1	2	1	0	0	2	2	3	2	2	2	2	4	4	2	2	3	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62561766G>A	ENST00000532297.1	-	20	2353	c.1724C>T	c.(1723-1725)tCt>tTt	p.S575F	NXF1_ENST00000294172.2_Missense_Mutation_p.S575F|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	575	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACTGGGTAGAGAATGCTTG	0.557													17	36					0	0	0	0	A	62561766	G	A	62561766	3	1	486	1	0	0	0	0	1	0	0	0	10853	942	33	2	147	2	NXF1	11	62561766	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3402	62561766	72444750	225	93715											
CCDC88B	283234	broad.mit.edu	37	chr11	64108646	64108646	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattgggatttgaccctctCtcaggtgctctccccaccca	7	11	7	16	0	3	1	1	1	2	0	5	2	3	2	4	2	1	1	4	2	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:64108646C>G	ENST00000356786.5	+	4	428	c.384C>G	c.(382-384)ctC>ctG	p.L128L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	128					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGACCCTCTCTCAGGTGCTC	0.607													25	61					0	0	0	0	G	64108646	C	G	64108646	2	3	486	1	0	0	0	0	0	0	0	1	2891	900	32	2		2	CCDC88B	11	64108646	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1546880	64108646	70897870	226	93716											
SLC22A11	55867	broad.mit.edu	37	chr11	64335074	64335074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagccttgcccgcagtttCtctctattgatctcctacta	6	15	5	15	1	3	1	0	1	3	0	6	1	4	1	4	0	3	2	4	0	3	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:64335074C>G	ENST00000301891.4	+	7	1436	c.1062C>G	c.(1060-1062)ttC>ttG	p.F354L	SLC22A11_ENST00000377581.3_Missense_Mutation_p.F354L|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	354					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCCGCAGTTTCTCTCTATTGA	0.632													67	142					0	0	0	0	G	64335074	C	G	64335074	3	3	486	1	0	0	0	0	1	0	0	0	14530	912	32	2	1088	2	SLC22A11	11	64335074	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	226428	64335074	70671442	227	93717											
MUS81	80198	broad.mit.edu	37	chr11	65632751	65632751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgcgcggagtgagtgggGagaaggcagcagccctggtg	8	5	21	7	2	0	2	0	1	0	1	0	4	0	3	1	6	3	2	1	6	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:65632751G>A	ENST00000308110.4	+	14	1811	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	MUS81_ENST00000533035.1_Missense_Mutation_p.E413K	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	488					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGTGAGTGGGGAGAAGGCAGC	0.642								Homologous recombination					26	72					0	0	0	0	A	65632751	G	A	65632751	3	1	486	1	0	0	0	0	1	0	0	0	10058	1175	41	2	1516	2	MUS81	11	65632751	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1297677	65632751	69373765	228	93718											
RCE1	9986	broad.mit.edu	37	chr11	66611085	66611085	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcctacgtgggcagcctCtacgtctggaagagcgaact	8	9	12	12	3	2	1	0	0	2	1	3	3	3	2	2	2	6	2	2	2	4	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:66611085C>G	ENST00000309657.3	+	1	203	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RCE1_ENST00000524506.1_Silent_p.L53L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	53					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGGGCAGCCTCTACGTCTGGA	0.746													13	13					0	0	0	0	G	66611085	C	G	66611085	2	3	486	1	0	0	0	0	0	0	0	1	13258	900	32	2		2	RCE1	11	66611085	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	978334	66611085	68395431	229	93719											
SHANK2	22941	broad.mit.edu	37	chr11	70319250	70319250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgacctactgcgtccCgctgggttcaagccaaatag	9	8	12	12	3	1	0	1	0	0	0	2	2	2	0	3	2	3	2	3	2	4	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:70319250C>T	ENST00000338508.4	-	33	5276	c.5277G>A	c.(5275-5277)gcG>gcA	p.A1759A	SHANK2_ENST00000423696.2_Silent_p.A1379A|SHANK2_ENST00000409161.1_Silent_p.A1162A|SHANK2_ENST00000449833.2_Silent_p.A1163A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1379					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TACTGCGTCCCGCTGGGTTCA	0.547													41	84					0	0	0	0	T	70319250	C	T	70319250	2	4	486	1	0	0	0	0	0	0	0	1	14353	639	23	1		1	SHANK2	11	70319250	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3708165	70319250	64687266	230	93720											
NUMA1	4926	broad.mit.edu	37	chr11	71724648	71724668	+	In_Frame_Del	DEL	CCTCCTCCCGGAGGCTCTGCA	CCTCCTCCCGGAGGCTCTGCA	-																															agccacccgctgtttctcagCctcctcccggaggctctgca																										TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:71724648_71724668delCCTCCTCCCGGAGGCTCTGCA	ENST00000393695.3	-	15	4212_4232	c.3881_3901delTGCAGAGCCTCCGGGAGGAGG	c.(3880-3903)gct>g	p.VQSLREEA1294del	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_In_Frame_Del_p.VQSLREEA1294del	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1294					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGTTTCTCAGCCTCCTCCCGGAGGCTCTGCACCTCCTCCCG	0.638			T	RARA	APL								7	65	---	---	---	---					-	71724668	CCTCCTCCCGGAGGCTCTGCA	-	71724648	7	5	486	1	0	1	0	1	0	0	0	0	10821	739	26	0	2498	0	NUMA1	11	71724648	In_Frame_Del	DEL	CCTCCTCCCGGAGGCTCTGCA	TCGA-T2-A6X2-01A-12D-A34J-08	1405398	71724648	63281868	231	93721											
NUMA1	4926	broad.mit.edu	37	chr11	71725139	71725139	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgctcctgctgcttcTggcattgctgttccagcttg	3	14	10	14	0	1	0	0	0	1	0	3	0	3	0	3	1	6	7	3	1	0	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:71725139T>G	ENST00000393695.3	-	15	3741	c.3410A>C	c.(3409-3411)cAg>cCg	p.Q1137P	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.Q1137P	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1137					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCTGCTTCTGGCATTGCTG	0.662			T	RARA	APL								29	91					0	0	0	0	G	71725139	T	G	71725139	3	3	486	1	0	0	0	0	1	0	0	0	10821	1580	55	5	2989	5	NUMA1	11	71725139	Missense_Mutation	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	491	71725139	63281377	232	93722											
XRRA1	143570	broad.mit.edu	37	chr11	74559187	74559187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagatggactctgtgctCttggagtcctcatctgatgg	8	12	13	8	0	4	2	1	1	3	1	5	5	5	5	1	4	1	1	1	4	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:74559187C>T	ENST00000340360.6	-	15	2008	c.1677G>A	c.(1675-1677)aaG>aaA	p.K559K	XRRA1_ENST00000527087.1_Silent_p.K472K|XRRA1_ENST00000321448.8_Silent_p.K284K	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	559					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						ACTCTGTGCTCTTGGAGTCCT	0.577													12	23					0	0	0	0	T	74559187	C	T	74559187	2	4	486	1	0	0	0	0	0	0	0	1	17557	912	32	2		2	XRRA1	11	74559187	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2834048	74559187	60447329	233	93723											
NEU3	10825	broad.mit.edu	37	chr11	74716673	74716673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgttcatggagtgaggtGagggacttgactgaggaggt	9	10	19	3	0	1	4	1	4	0	0	1	8	1	8	0	6	0	1	0	6	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:74716673G>A	ENST00000294064.4	+	3	1449	c.522G>A	c.(520-522)gtG>gtA	p.V174V	NEU3_ENST00000531509.1_Silent_p.V174V|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Silent_p.V65V|NEU3_ENST00000544263.1_Silent_p.V141V|NEU3_ENST00000532963.1_3'UTR	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	174										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGAGTGAGGTGAGGGACTTGA	0.567													41	105					0	0	0	0	A	74716673	G	A	74716673	2	1	486	1	0	0	0	0	0	0	0	1	10413	1277	45	2		2	NEU3	11	74716673	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	157486	74716673	60289843	234	93724											
C11orf82	220042	broad.mit.edu	37	chr11	82642834	82642834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcttacagcaatgctctGaccacaaaagaaaagccaaa	18	7	5	11	0	2	2	0	1	2	1	2	2	2	2	2	0	4	2	2	0	7	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:82642834G>A	ENST00000533655.1	+	6	666	c.454G>A	c.(454-456)Gac>Aac	p.D152N	C11orf82_ENST00000430323.2_Missense_Mutation_p.D152N|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525361.1_Missense_Mutation_p.D152N|C11orf82_ENST00000525388.1_Silent_p.L112L|C11orf82_ENST00000528759.1_Silent_p.L58L|C11orf82_ENST00000524921.1_Silent_p.L112L|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	152					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GCAATGCTCTGACCACAAAAG	0.388													40	106					0	0	0	0	A	82642834	G	A	82642834	3	1	486	1	0	0	0	0	1	0	0	0	1676	1290	45	2	468	2	C11orf82	11	82642834	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	7926161	82642834	52363682	235	93725											
USP28	57646	broad.mit.edu	37	chr11	113701592	113701592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagcagagaatttaccttCacgaaccccttcagtcagga	13	8	8	12	1	3	2	3	0	0	2	3	5	3	3	3	1	3	1	3	1	3	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:113701592C>T	ENST00000003302.4	-	9	975	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	USP28_ENST00000545540.1_Missense_Mutation_p.E178K|USP28_ENST00000260188.5_Missense_Mutation_p.E303K|USP28_ENST00000537706.1_Missense_Mutation_p.E303K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	303				VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039).	cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATTTACCTTCACGAACCCCT	0.403													47	102					0	0	0	0	T	113701592	C	T	113701592	3	4	486	1	0	0	0	0	1	0	0	0	17154	835	29	2	2394	2	USP28	11	113701592	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	31058758	113701592	21304924	236	93726											
OR8B3	390271	broad.mit.edu	37	chr11	124266389	124266389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcctcaaactgtagatgaGaggattgagcatgggcacca	12	9	12	8	0	1	3	1	2	0	2	2	5	2	4	2	2	2	4	2	2	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:124266389G>C	ENST00000354597.3	-	1	875	c.859C>G	c.(859-861)Ctc>Gtc	p.L287V		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTGTAGATGAGAGGATTGAGC	0.363													58	114					0	0	0	0	C	124266389	G	C	124266389	3	2	486	1	0	0	0	0	1	0	0	0	11299	942	33	2	84	2	OR8B3	11	124266389	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	10564797	124266389	10740127	237	93727											
ESAM	90952	broad.mit.edu	37	chr11	124626548	124626548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctttctcctggagaccctCcagccgcagggacaggttcc	6	9	11	15	1	2	1	0	0	2	1	5	3	4	2	5	3	1	2	5	3	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:124626548C>G	ENST00000278927.5	-	3	469	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	114	Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		TGGAGACCCTCCAGCCGCAGG	0.542													34	92					0	0	0	0	G	124626548	C	G	124626548	3	3	486	1	0	0	0	0	1	0	0	0	5285	864	30	2	852	2	ESAM	11	124626548	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	360159	124626548	10379968	238	93728											
IGSF9B	22997	broad.mit.edu	37	chr11	133790076	133790076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcggcgcgcctggcctgccGagggctaggccggggccggg	2	4	20	15	6	0	0	0	0	0	0	1	1	0	0	5	7	1	1	5	7	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:133790076G>A	ENST00000321016.8	-	18	3774	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1182	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGCCTGCCGAGGGCTAGGC	0.716													32	79					0	0	0	0	A	133790076	G	A	133790076	3	1	486	1	0	0	0	0	1	0	0	0	7659	1057	37	1	513	1	IGSF9B	11	133790076	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	9163528	133790076	1216440	239	93729											
IQSEC3	440073	broad.mit.edu	37	chr12	247960	247960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcctgcccccggcccaCagcgggaccctcatgatggc	5	4	12	20	3	1	1	1	1	0	0	1	2	1	2	6	4	2	0	6	4	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:247960C>T	ENST00000538872.1	+	4	1549	c.1431C>T	c.(1429-1431)caC>caT	p.H477H	IQSEC3_ENST00000382841.2_Silent_p.H174H|IQSEC3_ENST00000326261.4_Silent_p.H477H|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	477					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCCGGCCCACAGCGGGACCC	0.746													10	28					0	0	0	0	T	247960	C	T	247960	2	4	486	1	0	0	0	0	0	0	0	1	7872	477	17	4		4	IQSEC3	12	247960	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		247960	133603935	240	93730											
CACNA1C	775	broad.mit.edu	37	chr12	2702407	2702407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggaggagccagagatGcctgtcggccctcgcccacg	8	5	15	13	3	0	2	0	1	0	1	2	6	0	4	4	3	2	0	4	3	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:2702407G>A	ENST00000399655.1	+	19	2824	c.2559G>A	c.(2557-2559)atG>atA	p.M853I	CACNA1C_ENST00000399617.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000347598.4_Missense_Mutation_p.M853I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M853I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M878I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M853I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	853					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCCAGAGATGCCTGTCGGCC	0.507													9	17					0	0	0	0	A	2702407	G	A	2702407	3	1	486	1	0	0	0	0	1	0	0	0	2565	1319	46	4	2741	4	CACNA1C	12	2702407	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2454447	2702407	131149488	241	93731											
NCAPD2	9918	broad.mit.edu	37	chr12	6635459	6635459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgctctccacagccttctCtgggcaaacgtcaccccccc	6	9	6	20	1	3	0	1	0	2	0	5	0	3	0	5	1	3	2	5	1	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:6635459C>G	ENST00000315579.5	+	20	3287	c.2488C>G	c.(2488-2490)Ctg>Gtg	p.L830V	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.L785V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	830					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			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						ACAGCCTTCTCTGGGCAAACG	0.562													26	71					0	0	0	0	G	6635459	C	G	6635459	3	3	486	1	0	0	0	0	1	0	0	0	10275	912	32	2	2562	2	NCAPD2	12	6635459	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3933052	6635459	127216436	242	93732											
GNB3	2784	broad.mit.edu	37	chr12	6952860	6952860	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctcgggggacaccacGtggtgaggctgaacattgct	9	7	14	11	2	0	2	0	2	0	0	1	3	0	3	2	4	3	3	2	4	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:6952860G>A	ENST00000435982.2	+	7	584		c.e7+1		GNB3_ENST00000229264.3_Silent_p.T165T			P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGGACACCACGTGGTGAGGCT	0.577													33	79					0	0	0	0	A	6952860	G	A	6952860	5	1	486	1	0	0	0	0	0	0	1	0	6570	1132	40	1	517	1	GNB3	12	6952860	Splice_Site	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	317401	6952860	126899035	243	93733											
PTPN6	5777	broad.mit.edu	37	chr12	7055822	7055822	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgggccactgtgcacaGctgtgccgctggctcagccc	4	8	14	15	1	1	0	1	0	0	0	1	0	1	0	3	3	4	5	3	3	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:7055822G>A	ENST00000399448.1	+	0	83				PTPN6_ENST00000447931.2_De_novo_Start_InFrame	NM_080548.4	NP_536858.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6						apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACTGTGCACAGCTGTGCCGCT	0.652													9	13					0	0	0	0	A	7055822	G	A	7055822	1	1	486	1	0	0	0	0	0	0	0	0	12874	986	34	4		4	PTPN6	12	7055822	Translation_Start_Site	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	102962	7055822	126796073	244	93734											
CLEC2D	29121	broad.mit.edu	37	chr12	9845688	9845688	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaggtttcacaagttcctCgaatgaatccaagacctgtc	13	10	7	11	1	1	2	1	1	0	1	5	3	3	2	3	1	0	2	3	1	5	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:9845688C>T	ENST00000261340.7	+	5	542	c.520C>T	c.(520-522)Cga>Tga	p.R174*	CLEC2D_ENST00000543300.1_Intron|CLEC2D_ENST00000261339.6_Intron|CLEC2D_ENST00000545918.1_Intron|CLEC2D_ENST00000290855.6_Intron	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	0	C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	p.R174*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						ACAAGTTCCTCGAATGAATCC	0.373													34	98					0	0	0	0	T	9845688	C	T	9845688	4	4	486	1	0	0	0	0	0	1	0	0	3538	876	31	1	538	1	CLEC2D	12	9845688	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2789866	9845688	124006207	245	93735											
TMEM117	84216	broad.mit.edu	37	chr12	44781846	44781846	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaattatcttcctcgtcttGattttggatcttaatatgtg	8	19	8	6	1	3	1	0	1	3	0	5	3	4	3	1	2	0	0	1	2	4	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:44781846G>A	ENST00000266534.3	+	8	1063	c.936G>A	c.(934-936)ttG>ttA	p.L312L	TMEM117_ENST00000551577.1_Silent_p.*269*|TMEM117_ENST00000536799.1_Silent_p.L208L|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	312						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCCTCGTCTTGATTTTGGATC	0.338													19	50					0	0	0	0	A	44781846	G	A	44781846	2	1	486	1	0	0	0	0	0	0	0	1	16125	1281	45	2		2	TMEM117	12	44781846	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	34936158	44781846	89070049	246	93736											
ARID2	196528	broad.mit.edu	37	chr12	46246147	46246147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaggtgatcaactagaaaGaatttctaatggacctgtat	16	11	8	6	0	2	3	1	1	1	2	2	4	2	4	1	2	1	1	1	2	7	4	rs146518146	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:46246147G>A	ENST00000334344.6	+	15	4413	c.4241G>A	c.(4240-4242)aGa>aAa	p.R1414K	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.R1024K|ARID2_ENST00000457135.1_Missense_Mutation_p.R22K|ARID2_ENST00000422737.1_Missense_Mutation_p.R1265K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1414					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAACTAGAAAGAATTTCTAAT	0.408			"N, S, F"		hepatocellular carcinoma								48	84					0	0	0	0	A	46246147	G	A	46246147	3	1	486	1	0	0	0	0	1	0	0	0	917	942	33	2	4299	2	ARID2	12	46246147	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1464301	46246147	87605748	247	93737											
KCNH3	23416	broad.mit.edu	37	chr12	49934893	49934893	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaggagttcaaggctgaGctgatcctgtaccggaagag	12	7	13	9	1	1	3	1	2	0	1	2	5	2	5	2	3	2	4	2	3	4	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:49934893G>A	ENST00000257981.6	+	2	548	c.288G>A	c.(286-288)gaG>gaA	p.E96E	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	96	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCAAGGCTGAGCTGATCCTGT	0.637													18	43					0	0	0	0	A	49934893	G	A	49934893	2	1	486	1	0	0	0	0	0	0	0	1	8086	962	34	4		4	KCNH3	12	49934893	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3688746	49934893	83917002	248	93738											
OR9K2	441639	broad.mit.edu	37	chr12	55524474	55524474	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actccctagtcactcccatgTtgaatcctttgatttactct	8	16	4	13	0	2	2	1	2	1	0	5	2	5	2	3	0	1	1	3	0	3	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:55524474T>A	ENST00000305377.5	+	1	1010	c.922T>A	c.(922-924)Ttg>Atg	p.L308M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CACTCCCATGTTGAATCCTTT	0.358													59	141					0	0	0	0	A	55524474	T	A	55524474	3	1	486	1	0	0	0	0	1	0	0	0	11325	1722	60	5	924	5	OR9K2	12	55524474	Missense_Mutation	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	5589581	55524474	78327421	249	93739											
RBMS2	5939	broad.mit.edu	37	chr12	56975246	56975246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagaaacgacagaaccaagGaaaatttgtgcaaaatggac	21	5	9	6	1	0	2	0	0	0	2	0	5	0	4	1	2	3	1	1	2	8	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:56975246G>A	ENST00000262031.5	+	7	781	c.686G>A	c.(685-687)gGa>gAa	p.G229E	RBMS2_ENST00000542360.1_Missense_Mutation_p.G84E|RBMS2_ENST00000550726.1_Missense_Mutation_p.G104E|RBMS2_ENST00000552247.2_Missense_Mutation_p.G229E	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	229					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CAGAACCAAGGAAAATTTGTG	0.512													14	38					0	0	0	0	A	56975246	G	A	56975246	3	1	486	1	0	0	0	0	1	0	0	0	13231	1174	41	2	712	2	RBMS2	12	56975246	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1450772	56975246	76876649	250	93740											
GLI1	2735	broad.mit.edu	37	chr12	57857855	57857855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttatgggccagccagagaGaccaacagctgcaccgaggg	12	4	14	11	1	0	2	0	0	0	2	0	4	0	2	4	2	4	3	4	2	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:57857855G>A	ENST00000228682.2	+	3	265	c.174G>A	c.(172-174)gaG>gaA	p.E58E	GLI1_ENST00000543426.1_Intron|GLI1_ENST00000546141.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	58					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGCCAGAGAGACCAACAGCT	0.577													54	168					0	0	0	0	A	57857855	G	A	57857855	2	1	486	1	0	0	0	0	0	0	0	1	6488	933	33	2		2	GLI1	12	57857855	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	882609	57857855	75994040	251	93741											
PTPRB	5787	broad.mit.edu	37	chr12	70953303	70953303	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgggcaaccactgcagctCaaagtcgttgtagtctgtcc	8	11	10	12	1	3	0	1	0	2	0	5	0	4	0	2	1	3	5	2	1	3	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:70953303C>G	ENST00000334414.6	-	18	4578	c.4534G>C	c.(4534-4536)Gag>Cag	p.E1512Q	PTPRB_ENST00000550857.1_Missense_Mutation_p.E1204Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1204Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1294Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1204Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1511Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1424Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1294	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACTGCAGCTCAAAGTCGTTG	0.498													66	131					0	0	0	0	G	70953303	C	G	70953303	3	3	486	1	0	0	0	0	1	0	0	0	12878	835	29	2	2181	2	PTPRB	12	70953303	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	13095448	70953303	62898592	252	93742											
PPFIA2	8499	broad.mit.edu	37	chr12	81768511	81768511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacttttgttcagctagctCaagacgttcttgtaactgtc	9	15	7	10	1	3	1	2	0	1	1	4	1	3	1	0	0	4	5	0	0	4	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:81768511C>G	ENST00000550584.2	-	10	1463	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E316Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E237Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E372Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E291Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E372Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	316										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCAGCTAGCTCAAGACGTTCT	0.463													14	56					0	0	0	0	G	81768511	C	G	81768511	3	3	486	1	0	0	0	0	1	0	0	0	12381	835	29	2	2693	2	PPFIA2	12	81768511	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	10815208	81768511	52083384	253	93743											
DCN	1634	broad.mit.edu	37	chr12	91546954	91546954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caagatgtaattccgtaaggGaaggaggaagacctggaatg	15	7	14	5	1	0	2	0	0	0	2	1	6	1	6	2	4	0	2	2	4	6	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:91546954G>A	ENST00000052754.5	-	6	1166	c.665C>T	c.(664-666)tCc>tTc	p.S222F	DCN_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.S222F|DCN_ENST00000420120.2_Missense_Mutation_p.S113F|DCN_ENST00000547568.2_Missense_Mutation_p.S75F|DCN_ENST00000552962.1_Missense_Mutation_p.S222F|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.S75F|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.S113F	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	222					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTCCGTAAGGGAAGGAGGAAG	0.353													26	66					0	0	0	0	A	91546954	G	A	91546954	3	1	486	1	0	0	0	0	1	0	0	0	4329	1174	41	2	426	2	DCN	12	91546954	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	9778443	91546954	42304941	254	93744											
TCTN1	79600	broad.mit.edu	37	chr12	111072531	111072531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataaatttagaacagtgtGaagaaattgaagccctcagc	18	9	8	6	0	1	4	1	2	0	2	1	4	1	4	1	0	3	0	1	0	8	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:111072531G>A	ENST00000551590.1	+	6	925	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.E79K|TCTN1_ENST00000397659.4_Missense_Mutation_p.E257K|TCTN1_ENST00000551555.2_Intron|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	257					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AGAACAGTGTGAAGAAATTGA	0.368													15	63					0	0	0	0	A	111072531	G	A	111072531	3	1	486	1	0	0	0	0	1	0	0	0	15816	1291	45	2	963	2	TCTN1	12	111072531	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	19525577	111072531	22779364	255	93745											
CUX2	23316	broad.mit.edu	37	chr12	111745029	111745029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctccaggcccaGtctgactatgaggaaattaa	15	7	11	8	0	1	3	0	2	1	1	2	6	2	4	2	2	1	1	2	2	5	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:111745029G>A	ENST00000261726.6	+	12	1231	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGGCCCAGTCTGACTATG	0.572													24	32					0	0	0	0	A	111745029	G	A	111745029	2	1	486	1	0	0	0	0	0	0	0	1	4097	1020	36	4		4	CUX2	12	111745029	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	672498	111745029	22106866	256	93746											
ZCCHC8	55596	broad.mit.edu	37	chr12	122966509	122966509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctaataactcctggcttGaatcttccaaatctttcttc	10	16	3	12	0	3	1	0	1	3	0	6	1	5	1	3	1	2	1	3	1	5	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:122966509G>C	ENST00000543897.1	-	7	2499	c.144C>G	c.(142-144)ttC>ttG	p.F48L	ZCCHC8_ENST00000336229.4_Missense_Mutation_p.F286L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.F48L			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	286						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTCCTGGCTTGAATCTTCCAA	0.378													20	31					0	0	0	0	C	122966509	G	C	122966509	3	2	486	1	0	0	0	0	1	0	0	0	17689	1281	45	2	1289	2	ZCCHC8	12	122966509	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	11221480	122966509	10885386	257	93747											
RIMBP2	23504	broad.mit.edu	37	chr12	130935880	130935880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcctccaatagcgctctCctgacctggccacgaacatt	8	9	8	16	2	1	1	0	1	1	0	3	2	2	1	5	1	3	2	5	1	3	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:130935880C>T	ENST00000261655.4	-	5	476	c.313G>A	c.(313-315)Gag>Aag	p.E105K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E13K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E13K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	105						cell junction|synapse				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)		ATAGCGCTCTCCTGACCTGGC	0.562													23	38					0	0	0	0	T	130935880	C	T	130935880	3	4	486	1	0	0	0	0	1	0	0	0	13446	864	30	2	2905	2	RIMBP2	12	130935880	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	7969371	130935880	2916015	258	93748											
SACS	26278	broad.mit.edu	37	chr13	23909724	23909724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgattttgccctttactGaatacagcacatttagagct	10	15	7	9	0	0	3	0	2	0	1	0	3	0	3	1	0	5	2	1	0	4	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:23909724G>A	ENST00000382298.3	-	10	8879	c.8291C>T	c.(8290-8292)tCa>tTa	p.S2764L	SACS_ENST00000402364.1_Missense_Mutation_p.S2014L|SACS_ENST00000382292.3_Missense_Mutation_p.S2764L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2764					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCCTTTACTGAATACAGCAC	0.353													45	111					0	0	0	0	A	23909724	G	A	23909724	3	1	486	1	0	0	0	0	1	0	0	0	13889	1294	45	2	5452	2	SACS	13	23909724	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		23909724	91260154	259	93749											
MTMR6	9107	broad.mit.edu	37	chr13	25828547	25828547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaaatttatgtccaaaaGagatccaatccttttctatt	14	15	4	8	0	1	2	0	1	1	1	4	3	4	2	3	0	0	0	3	0	7	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:25828547G>C	ENST00000381801.5	-	10	1882	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	MTMR6_ENST00000540661.1_Missense_Mutation_p.S374C	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	374	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ATGTCCAAAAGAGATCCAATC	0.284													8	28					0	0	0	0	C	25828547	G	C	25828547	3	2	486	1	0	0	0	0	1	0	0	0	10017	942	33	2	764	2	MTMR6	13	25828547	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1918823	25828547	89341331	260	93750											
WASF3	10810	broad.mit.edu	37	chr13	27241766	27241766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgctgatatttacaaccaGagtgataagccaccgcctct	11	11	8	11	1	1	3	0	2	1	1	1	3	1	3	4	0	4	2	4	0	4	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:27241766G>C	ENST00000361042.4	+	5	606	c.381G>C	c.(379-381)caG>caC	p.Q127H	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.Q127H			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	127					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTTACAACCAGAGTGATAAGC	0.458													45	123					0	0	0	0	C	27241766	G	C	27241766	3	2	486	1	0	0	0	0	1	0	0	0	17350	933	33	2	391	2	WASF3	13	27241766	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1413219	27241766	87928112	261	93751											
BRCA2	675	broad.mit.edu	37	chr13	32937584	32937584	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcagactgacagttggtCagaagattattcttcatgga	12	12	11	6	0	3	4	2	1	1	3	3	5	3	5	0	3	0	2	0	3	2	4	rs80359703		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:32937584C>T	ENST00000544455.1	+	18	8472	c.8245C>T	c.(8245-8247)Cag>Tag	p.Q2749*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2749*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2749					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACAGTTGGTCAGAAGATTAT	0.443			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			37	63					0	0	0	0	T	32937584	C	T	32937584	4	4	486	1	0	0	0	0	0	1	0	0	1507	827	29	2	8311	2	BRCA2	13	32937584	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	5695818	32937584	82232294	262	93752											
MTRF1	9617	broad.mit.edu	37	chr13	41826842	41826842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttatagcacgaataattCtggtacatgtcaaatatttc	13	16	6	6	1	2	0	1	0	1	0	3	1	2	0	0	1	2	3	0	1	7	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:41826842C>T	ENST00000379480.4	-	5	736	c.636G>A	c.(634-636)caG>caA	p.Q212Q	MTRF1_ENST00000430347.2_Silent_p.Q225Q|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Silent_p.Q212Q	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	212					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		ACGAATAATTCTGGTACATGT	0.363													12	49					0	0	0	0	T	41826842	C	T	41826842	2	4	486	1	0	0	0	0	0	0	0	1	10029	912	32	2		2	MTRF1	13	41826842	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	8889258	41826842	73343036	263	93753											
TPP2	7174	broad.mit.edu	37	chr13	103275226	103275226	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatttctttttaattaataGagcctgcattgattctaatg	11	18	5	7	0	2	2	0	1	2	1	2	2	2	2	2	0	2	1	2	0	4	9			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:103275226G>C	ENST00000376052.3	+	6	636		c.e6-1		TPP2_ENST00000376065.4_Splice_Site			P29144	TPP2_HUMAN	tripeptidyl peptidase II						proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAATTAATAGAGCCTGCATT	0.343													56	140					0	0	0	0	C	103275226	G	C	103275226	5	2	486	1	0	0	0	0	0	0	1	0	16507	956	33	2	642	2	TPP2	13	103275226	Splice_Site	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	61448384	103275226	11894652	264	93754											
LIG4	3981	broad.mit.edu	37	chr13	108861753	108861753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctttttttcttgtggttCatcatcaccacctatataaa	9	17	4	11	1	4	0	3	0	1	0	4	0	4	0	3	1	0	2	3	1	4	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:108861753C>T	ENST00000356922.4	-	2	2136	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	LIG4_ENST00000405925.1_Missense_Mutation_p.E622K|LIG4_ENST00000442234.1_Missense_Mutation_p.E622K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	622					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCTTGTGGTTCATCATCACCA	0.423								Non-homologous end-joining					35	102					0	0	0	0	T	108861753	C	T	108861753	3	4	486	1	0	0	0	0	1	0	0	0	8837	835	29	2	875	2	LIG4	13	108861753	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	5586527	108861753	6308125	265	93755											
MYO16	23026	broad.mit.edu	37	chr13	109318415	109318415	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagggttcctgaaaaggctGaagcatgcgaagaatccgaa	15	6	13	7	2	0	3	0	2	0	1	2	6	2	3	2	2	2	3	2	2	7	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:109318415G>A	ENST00000356711.2	+	2	270	c.144G>A	c.(142-144)ctG>ctA	p.L48L	MYO16_ENST00000251041.5_Silent_p.L48L|MYO16_ENST00000357550.2_Silent_p.L48L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	48					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGAAAAGGCTGAAGCATGCGA	0.478													21	34					0	0	0	0	A	109318415	G	A	109318415	2	1	486	1	0	0	0	0	0	0	0	1	10134	1277	45	2		2	MYO16	13	109318415	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	456662	109318415	5851463	266	93756											
ATP11A	23250	broad.mit.edu	37	chr13	113530244	113530244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgtggccaacagcaacaGagagagtccaggtacggagt	13	5	14	9	1	0	2	0	0	0	2	1	4	1	3	2	3	5	3	2	3	3	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:113530244G>C	ENST00000487903.1	+	28	3404	c.3316G>C	c.(3316-3318)Gag>Cag	p.E1106Q	ATP11A_ENST00000375645.3_Missense_Mutation_p.E1106Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.E1106Q|ATP11A_ENST00000375630.2_Missense_Mutation_p.E1106Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1106					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AACAGCAACAGAGAGAGTCCA	0.632													19	52					0	0	0	0	C	113530244	G	C	113530244	3	2	486	1	0	0	0	0	1	0	0	0	1123	943	33	2	3426	2	ATP11A	13	113530244	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	4211829	113530244	1639634	267	93757											
CHD8	57680	broad.mit.edu	37	chr14	21870633	21870633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaccttcacagctttgctCtgcccaattcgatgacatcg	9	12	6	14	2	2	1	1	1	1	0	4	2	2	1	2	0	4	2	2	0	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:21870633C>G	ENST00000399982.2	-	18	3808	c.3744G>C	c.(3742-3744)caG>caC	p.Q1248H	CHD8_ENST00000430710.3_Missense_Mutation_p.Q969H|CHD8_ENST00000557364.1_Missense_Mutation_p.Q1248H|CHD8_ENST00000555962.1_5'UTR	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1248	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGCTTTGCTCTGCCCAATTC	0.438													17	51					0	0	0	0	G	21870633	C	G	21870633	3	3	486	1	0	0	0	0	1	0	0	0	3360	912	32	2	4081	2	CHD8	14	21870633	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		21870633	85478907	268	93758											
OR4E2	26686	broad.mit.edu	37	chr14	22133626	22133626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatctctttgcctgtgcCgagatctttctgctgatcat	6	16	7	12	1	4	2	1	1	3	1	5	3	4	2	2	0	4	1	2	0	1	3	rs118047831	by1000genomes	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:22133626C>T	ENST00000408935.1	+	1	330	c.330C>T	c.(328-330)gcC>gcT	p.A110A		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTGCCTGTGCCGAGATCTTTC	0.458													82	220					0	0	0	0	T	22133626	C	T	22133626	2	4	486	1	0	0	0	0	0	0	0	1	11131	639	23	1		1	OR4E2	14	22133626	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	262993	22133626	85215914	269	93759											
CPNE6	9362	broad.mit.edu	37	chr14	24546882	24546882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactacgccagccagggcatCagccctggggctcccaggcc	7	5	12	17	1	1	0	1	0	0	0	2	0	2	0	5	4	4	2	5	4	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24546882C>T	ENST00000397016.2	+	17	1928	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	CPNE6_ENST00000537691.1_Silent_p.I594I|CPNE6_ENST00000216775.2_Silent_p.I539I			O95741	CPNE6_HUMAN	copine VI (neuronal)	539					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCAGGGCATCAGCCCTGGGG	0.667													38	88					0	0	0	0	T	24546882	C	T	24546882	2	4	486	1	0	0	0	0	0	0	0	1	3846	816	29	2		2	CPNE6	14	24546882	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2413256	24546882	82802658	270	93760											
DCAF11	80344	broad.mit.edu	37	chr14	24589040	24589040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgacgcaccatgcgggagGatgaccccaagcctgtgggt	9	6	14	12	3	0	1	0	1	0	0	1	4	0	3	4	3	2	1	4	3	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24589040G>A	ENST00000446197.3	+	11	1754	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	DCAF11_ENST00000396936.1_Missense_Mutation_p.D243N|DCAF11_ENST00000396941.4_Missense_Mutation_p.D317N|DCAF11_ENST00000559115.1_Missense_Mutation_p.D343N	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	343						CUL4 RING ubiquitin ligase complex	protein binding										CATGCGGGAGGATGACCCCAA	0.567													13	25					0	0	0	0	A	24589040	G	A	24589040	3	1	486	1	0	0	0	0	1	0	0	0	4295	1174	41	2	1065	2	DCAF11	14	24589040	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	42158	24589040	82760500	271	93761											
PSME1	5720	broad.mit.edu	37	chr14	24606931	24606931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccctgtggcccagtgaaCtgcaatgaaaagatcgtggt	10	9	11	11	1	0	3	0	2	0	1	2	3	1	3	3	2	2	1	3	2	4	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24606931C>T	ENST00000382708.3	+	6	378	c.315C>T	c.(313-315)aaC>aaT	p.N105N	PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000206451.6_Silent_p.N105N|PSME1_ENST00000561435.1_Silent_p.N105N|PSME1_ENST00000470718.1_3'UTR	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	105					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GCCCAGTGAACTGCAATGAAA	0.522													25	67					0	0	0	0	T	24606931	C	T	24606931	2	4	486	1	0	0	0	0	0	0	0	1	12785	564	20	4		4	PSME1	14	24606931	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	17891	24606931	82742609	272	93762											
GZMB	3002	broad.mit.edu	37	chr14	25102257	25102257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttggcctcatgtccccCgatgatctcccctgaaggaa	7	9	11	14	1	2	2	1	2	1	0	4	4	3	3	5	3	0	1	5	3	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:25102257C>T	ENST00000216341.4	-	2	173	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.G23R|GZMB_ENST00000526004.1_Missense_Mutation_p.G23R|GZMB_ENST00000382542.1_Missense_Mutation_p.G57R|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.G11R			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	23	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCATGTCCCCCGATGATCTCC	0.562													46	131					0	0	0	0	T	25102257	C	T	25102257	3	4	486	1	0	0	0	0	1	0	0	0	6966	652	23	1	692	1	GZMB	14	25102257	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	495326	25102257	82247283	273	93763											
FOXG1	2290	broad.mit.edu	37	chr14	29237439	29237439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttcctgtccctgcaccaCccccgcgccagcagcacttt	5	8	6	22	2	0	0	0	0	0	0	2	0	2	0	7	0	3	3	7	0	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:29237439C>T	ENST00000382535.3	+	2	1323	c.954C>T	c.(952-954)caC>caT	p.H318H	FOXG1_ENST00000313071.4_Silent_p.H318H			P55316	FOXG1_HUMAN	forkhead box G1	318				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCTGCACCACCCCCGCGCCA	0.667													49	96					0	0	0	0	T	29237439	C	T	29237439	2	4	486	1	0	0	0	0	0	0	0	1	6054	506	18	4		4	FOXG1	14	29237439	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4135182	29237439	78112101	274	93764											
AKAP6	9472	broad.mit.edu	37	chr14	33147646	33147646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctgatatgtcaaaagttCattcagtgggaagcaatggg	12	12	12	5	0	3	1	3	1	0	0	3	2	3	2	0	2	2	3	0	2	5	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:33147646C>G	ENST00000280979.4	+	8	3030	c.2860C>G	c.(2860-2862)Cat>Gat	p.H954D	AKAP6_ENST00000557354.1_Missense_Mutation_p.H954D|AKAP6_ENST00000557272.1_Missense_Mutation_p.H954D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	954					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCAAAAGTTCATTCAGTGGG	0.408													30	86					0	0	0	0	G	33147646	C	G	33147646	3	3	486	1	0	0	0	0	1	0	0	0	455	826	29	2	2886	2	AKAP6	14	33147646	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3910207	33147646	74201894	275	93765											
RALGAPA1	253959	broad.mit.edu	37	chr14	36143916	36143916	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatggaaattcactaatttCtatagaaaaaaatatatagt	19	14	5	3	0	2	2	1	1	1	1	2	3	2	3	0	1	0	0	0	1	10	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:36143916C>T	ENST00000258840.6	-	23	3638		c.e23-1		RALGAPA1_ENST00000382366.3_Splice_Site|RALGAPA1_ENST00000307138.6_Splice_Site|RALGAPA1_ENST00000389698.3_Splice_Site			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACTAATTTCTATAGAAAAA	0.363													7	24					0	0	0	0	T	36143916	C	T	36143916	5	4	486	1	0	0	0	0	0	0	1	0	13095	927	32	2	3233	2	RALGAPA1	14	36143916	Splice_Site	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2996270	36143916	71205624	276	93766											
SNAPC1	6617	broad.mit.edu	37	chr14	62229286	62229286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggagctctggagaaacatGaagttcgggactatcttctg	11	10	12	8	2	3	2	0	1	3	1	4	5	3	4	0	3	2	2	0	3	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:62229286G>A	ENST00000216294.4	+	1	212	c.108G>A	c.(106-108)atG>atA	p.M36I	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	36	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GGAGAAACATGAAGTTCGGGA	0.602													52	113					0	0	0	0	A	62229286	G	A	62229286	3	1	486	1	0	0	0	0	1	0	0	0	14922	1290	45	2	110	2	SNAPC1	14	62229286	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	26085370	62229286	45120254	277	93767											
ZBTB1	22890	broad.mit.edu	37	chr14	64988277	64988277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagctaaacaaccaaagaGaatggggttttctctgtgac	14	9	10	8	0	1	2	0	1	1	1	2	3	1	2	1	2	4	3	1	2	5	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:64988277G>C	ENST00000358738.3	+	2	446	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	ZBTB1_ENST00000554015.1_Missense_Mutation_p.E19Q|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.E19Q	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAACCAAAGAGAATGGGGTTT	0.393													55	105					0	0	0	0	C	64988277	G	C	64988277	3	2	486	1	0	0	0	0	1	0	0	0	17617	943	33	2	57	2	ZBTB1	14	64988277	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2758991	64988277	42361263	278	93768											
PLEKHG3	26030	broad.mit.edu	37	chr14	65197600	65197600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggagctgctacagcactCgctgcccttgggctcctacc	6	8	11	16	1	0	0	0	0	0	0	2	1	1	1	3	2	6	6	3	2	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:65197600C>T	ENST00000247226.7	+	4	790	c.482C>T	c.(481-483)tCg>tTg	p.S161L	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S217L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	217	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTACAGCACTCGCTGCCCTTG	0.647													20	31					0	0	0	0	T	65197600	C	T	65197600	3	4	486	1	0	0	0	0	1	0	0	0	12142	893	31	1	492	1	PLEKHG3	14	65197600	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	209323	65197600	42151940	279	93769											
SPTB	6710	broad.mit.edu	37	chr14	65216069	65216069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcttctccttgtctttCttgccgaggctggcgtcggg	3	15	11	12	3	4	0	0	0	4	0	7	1	4	0	2	3	1	1	2	3	1	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:65216069C>A	ENST00000389722.3	-	35	6995	c.6942G>T	c.(6940-6942)aaG>aaT	p.K2314N	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.K2314N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTGTCTTTCTTGCCGAGGC	0.662													9	25					0.000442599	0.000447061	1	0	A	65216069	C	A	65216069	3	1	486	1	0	0	0	0	1	0	0	0	15208	912	32	2	48	2	SPTB	14	65216069	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	18469	65216069	42133471	280	93770											
NRXN3	9369	broad.mit.edu	37	chr14	80328176	80328176	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagggacgaggggtcctatCaagtggacgagacgcggaac	12	4	16	9	4	1	1	1	0	0	1	2	6	2	4	1	5	1	0	1	5	3	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:80328176C>T	ENST00000281127.7	+	6	2047	c.1168C>T	c.(1168-1170)Caa>Taa	p.Q390*	NRXN3_ENST00000335750.5_Nonsense_Mutation_p.Q1019*|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Nonsense_Mutation_p.Q595*|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.Q417*|NRXN3_ENST00000554719.1_Nonsense_Mutation_p.Q1019*	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	595					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGGTCCTATCAAGTGGACGA	0.572													12	23					0	0	0	0	T	80328176	C	T	80328176	4	4	486	1	0	0	0	0	0	1	0	0	10738	827	29	2	3467	2	NRXN3	14	80328176	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	15112107	80328176	27021364	281	93771											
GPR65	8477	broad.mit.edu	37	chr14	88477678	88477678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgttgaatattgcgatgccGaaaagtctaattttacttta	12	17	7	5	2	1	1	0	1	1	0	1	3	1	1	1	0	3	1	1	0	7	9			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:88477678G>A	ENST00000267549.3	+	2	1045	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	163					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGCGATGCCGAAAAGTCTAA	0.393													5	224					0	0	0	0	A	88477678	G	A	88477678	3	1	486	1	0	0	0	0	1	0	0	0	6755	1059	37	1	489	1	GPR65	14	88477678	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	8149502	88477678	18871862	282	93772											
SPATA7	55812	broad.mit.edu	37	chr14	88893002	88893002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacctgccaaaagaaaaaagGattttacagatcaacggata	19	7	7	8	1	1	2	1	0	0	2	1	4	1	4	2	2	3	0	2	2	8	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:88893002G>C	ENST00000556553.1	+	6	1262	c.703G>C	c.(703-705)Gat>Cat	p.D235H	SPATA7_ENST00000356583.5_Missense_Mutation_p.D235H|SPATA7_ENST00000045347.7_Missense_Mutation_p.D267H|SPATA7_ENST00000393545.4_Missense_Mutation_p.D267H			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	267					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAGAAAAAAGGATTTTACAGA	0.353													18	47					0	0	0	0	C	88893002	G	C	88893002	3	2	486	1	0	0	0	0	1	0	0	0	15104	1174	41	2	821	2	SPATA7	14	88893002	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	415324	88893002	18456538	283	93773											
HERC2	8924	broad.mit.edu	37	chr15	28370247	28370247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggttgaccttcttaccctGaagggcagctaccaaccgag	10	8	10	13	2	1	2	0	2	1	0	1	3	1	2	4	2	4	3	4	2	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:28370247G>T	ENST00000261609.7	-	84	13003	c.12895C>A	c.(12895-12897)Cag>Aag	p.Q4299K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4299					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCTTACCCTGAAGGGCAGCT	0.582													56	197					2.47907e-22	2.62028e-22	1	0	T	28370247	G	T	28370247	3	4	486	1	0	0	0	0	1	0	0	0	7108	1299	45	2	1649	2	HERC2	15	28370247	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		28370247	74161145	284	93774											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929088	32929088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgaaaaagacattcattCaaatatgccaaaagattatt	20	11	4	6	0	2	3	2	1	0	2	2	3	2	3	1	0	1	0	1	0	7	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:32929088C>T	ENST00000361627.3	+	12	2836	c.2114C>T	c.(2113-2115)tCa>tTa	p.S705L	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S516L|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S516L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	705					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GACATTCATTCAAATATGCCA	0.299													18	40					0	0	0	0	T	32929088	C	T	32929088	3	4	486	1	0	0	0	0	1	0	0	0	865	838	29	2	2183	2	ARHGAP11A	15	32929088	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4558841	32929088	69602304	285	93775											
RYR3	6263	broad.mit.edu	37	chr15	33954828	33954828	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaaggctctgagtatgctGacagaggcagtgcagtgcag	11	7	15	8	1	1	3	0	2	1	1	1	4	1	3	0	2	3	6	0	2	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:33954828G>C	ENST00000389232.4	+	35	5167	c.5097G>C	c.(5095-5097)ctG>ctC	p.L1699L	RYR3_ENST00000415757.3_Silent_p.L1699L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1699	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGTATGCTGACAGAGGCAG	0.572													44	100					0	0	0	0	C	33954828	G	C	33954828	2	2	486	1	0	0	0	0	0	0	0	1	13855	1277	45	2		2	RYR3	15	33954828	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1025740	33954828	68576564	286	93776											
SPRED1	161742	broad.mit.edu	37	chr15	38632026	38632026	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgagccttatagaagctCaaatataagaccttctccct	13	11	6	11	0	2	3	1	1	1	2	3	3	2	3	3	0	2	1	3	0	6	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:38632026C>G	ENST00000299084.4	+	5	1372	c.512C>G	c.(511-513)tCa>tGa	p.S171*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	171					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TATAGAAGCTCAAATATAAGA	0.408									Legius syndrome				31	69					0	0	0	0	G	38632026	C	G	38632026	4	3	486	1	0	0	0	0	0	1	0	0	15182	838	29	2	530	2	SPRED1	15	38632026	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4677198	38632026	63899366	287	93777											
MAP1A	4130	broad.mit.edu	37	chr15	43818025	43818025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaggataagattccagaaGagaaagacaaagccttagaa	21	5	10	5	0	0	6	0	0	0	6	1	8	1	7	2	1	1	0	2	1	7	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:43818025G>A	ENST00000382031.1	+	5	5099	c.5068G>A	c.(5068-5070)Gag>Aag	p.E1690K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E1452K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1452K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1452			A -> S (in dbSNP:rs1060946).			cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATTCCAGAAGAGAAAGACAA	0.453													20	56					0	0	0	0	A	43818025	G	A	43818025	3	1	486	1	0	0	0	0	1	0	0	0	9296	943	33	2	4356	2	MAP1A	15	43818025	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5185999	43818025	58713367	288	93778											
B2M	567	broad.mit.edu	37	chr15	45007673	45007674	+	Frame_Shift_Del	DEL	AA	AA	-																															ccagcagagaatggaaagtcAaatttcctgaattgctatgt																										TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:45007673_45007674delAA	ENST00000558401.1	+	2	190_191	c.120_121delAA	c.(118-123)tcatfs	p.SN40fs	B2M_ENST00000544417.1_Frame_Shift_Del_p.SN40fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.SN40fs|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	40	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATGGAAAGTCAAATTTCCTGAA	0.401													84	183	---	---	---	---					-	45007674	AA	-	45007673	7	5	486	1	0	1	0	1	0	0	0	0	1248	117	5	0	126	0	B2M	15	45007673	Frame_Shift_Del	DEL	AA	TCGA-T2-A6X2-01A-12D-A34J-08	1189648	45007673	57523719	289	93779											
B2M	567	broad.mit.edu	37	chr15	45007842	45007842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacccccactgaaaaagatGagtatgcctgccgtgtgaac	12	8	9	12	1	1	4	1	3	0	1	1	4	1	4	4	0	3	1	4	0	4	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:45007842G>A	ENST00000558401.1	+	2	359	c.289G>A	c.(289-291)Gag>Aag	p.E97K	B2M_ENST00000544417.1_Missense_Mutation_p.E97K|B2M_ENST00000559916.1_Missense_Mutation_p.E97K|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	97	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.E97K(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGAAAAAGATGAGTATGCCTG	0.418													77	143					0	0	0	0	A	45007842	G	A	45007842	3	1	486	1	0	0	0	0	1	0	0	0	1248	1291	45	2	295	2	B2M	15	45007842	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	169	45007842	57523550	290	93780											
TRPM7	54822	broad.mit.edu	37	chr15	50903317	50903317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaatttttcctcatattCagccttcccatccacatatc	10	14	3	14	0	2	0	2	0	0	0	6	1	5	1	4	1	1	0	4	1	3	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:50903317C>T	ENST00000313478.7	-	17	2534	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	TRPM7_ENST00000560955.1_Silent_p.L751L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	751					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCTCATATTCAGCCTTCCCA	0.333													36	83					0	0	0	0	T	50903317	C	T	50903317	2	4	486	1	0	0	0	0	0	0	0	1	16686	813	29	2		2	TRPM7	15	50903317	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	5895475	50903317	51628075	291	93781											
TRPM7	54822	broad.mit.edu	37	chr15	50903487	50903487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgtctgaaggactgttCtaataattcaacggccaact	12	13	7	9	1	4	1	1	1	3	0	4	2	4	2	1	2	2	1	1	2	5	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:50903487C>G	ENST00000313478.7	-	17	2364	c.2083G>C	c.(2083-2085)Gaa>Caa	p.E695Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.E695Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	695					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGGACTGTTCTAATAATTCA	0.333													31	73					0	0	0	0	G	50903487	C	G	50903487	3	3	486	1	0	0	0	0	1	0	0	0	16686	922	32	2	3606	2	TRPM7	15	50903487	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	170	50903487	51627905	292	93782											
MYO5C	55930	broad.mit.edu	37	chr15	52561977	52561977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgaaggtcttttgagtctCtaccatttcagctcgatcat	8	15	8	10	2	4	2	2	2	2	0	6	3	4	2	1	1	2	1	1	1	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:52561977C>G	ENST00000261839.7	-	8	1074	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_Missense_Mutation_p.E248Q	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	305	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E305*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTTTGAGTCTCTACCATTTCA	0.383													59	117					0	0	0	0	G	52561977	C	G	52561977	3	3	486	1	0	0	0	0	1	0	0	0	10150	922	32	2	4451	2	MYO5C	15	52561977	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1658490	52561977	49969415	293	93783											
MNS1	55329	broad.mit.edu	37	chr15	56736662	56736662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactgatcttcttcatagatCttcctaacaatttcatcaat	13	16	2	10	0	6	2	3	1	3	1	7	2	7	2	1	0	2	0	1	0	5	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:56736662C>G	ENST00000260453.3	-	5	830	c.666G>C	c.(664-666)aaG>aaC	p.K222N	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	222	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTTCATAGATCTTCCTAACAA	0.328													23	46					0	0	0	0	G	56736662	C	G	56736662	3	3	486	1	0	0	0	0	1	0	0	0	9747	912	32	2	845	2	MNS1	15	56736662	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4174685	56736662	45794730	294	93784											
ZNF609	23060	broad.mit.edu	37	chr15	64967313	64967313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggaaggtgtgtcgagcaGaggaaggcaaaagcccattc	12	6	15	8	1	0	1	0	0	0	1	2	4	0	3	1	4	2	2	1	4	4	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:64967313G>C	ENST00000326648.3	+	4	2388	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	754						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTCGAGCAGAGGAAGGCAA	0.488													37	120					0	0	0	0	C	64967313	G	C	64967313	3	2	486	1	0	0	0	0	1	0	0	0	18130	943	33	2	2274	2	ZNF609	15	64967313	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	8230651	64967313	37564079	295	93785											
ZNF609	23060	broad.mit.edu	37	chr15	64972426	64972426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctttttccccatatggcaGcaaggtctcaggtggtgaag	8	12	11	10	0	2	1	1	1	2	0	4	1	3	1	2	4	1	2	2	4	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:64972426G>A	ENST00000326648.3	+	6	3940	c.3812G>A	c.(3811-3813)aGc>aAc	p.S1271N		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1271						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCATATGGCAGCAAGGTCTCA	0.512													4	128					0	0	0	0	A	64972426	G	A	64972426	3	1	486	1	0	0	0	0	1	0	0	0	18130	971	34	4	3834	4	ZNF609	15	64972426	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5113	64972426	37558966	296	93786											
PARP6	56965	broad.mit.edu	37	chr15	72543224	72543224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatagagcttcttggcggtCcggaaccgagcctccttggc	6	9	12	14	3	1	1	0	0	1	1	3	3	3	2	5	4	3	1	5	4	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:72543224C>T	ENST00000569795.1	-	18	2067	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R	PARP6_ENST00000260376.7_Silent_p.R460R|PARP6_ENST00000287196.9_Silent_p.R460R|PARP6_ENST00000413097.2_Intron			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	460	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TCTTGGCGGTCCGGAACCGAG	0.637													10	18					0	0	0	0	T	72543224	C	T	72543224	2	4	486	1	0	0	0	0	0	0	0	1	11535	842	30	2		2	PARP6	15	72543224	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	7570798	72543224	29988168	297	93787											
RGMA	56963	broad.mit.edu	37	chr15	93595604	93595604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccggcaggtgcgggccgtCcgccgcgtgcacagggcgta	4	4	17	16	7	0	0	0	0	0	0	1	0	1	0	5	4	2	3	5	4	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:93595604C>T	ENST00000329082.7	-	3	535	c.264G>A	c.(262-264)cgG>cgA	p.R88R	RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000542321.2_Silent_p.R72R|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556087.1_Silent_p.R72R|RGMA_ENST00000543599.1_Silent_p.R72R|RGMA_ENST00000425933.2_Silent_p.R72R|RGMA_ENST00000557301.1_Silent_p.R96R	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	88					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGCGGGCCGTCCGCCGCGTGC	0.682													16	38					0	0	0	0	T	93595604	C	T	93595604	2	4	486	1	0	0	0	0	0	0	0	1	13362	842	30	2		2	RGMA	15	93595604	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	21052380	93595604	8935788	298	93788											
CREBBP	1387	broad.mit.edu	37	chr16	3828790	3828790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgatcctttagagctgcggGatcaggtgttgggaagatgg	8	10	17	6	2	1	2	1	0	0	2	2	5	2	4	1	4	2	2	1	4	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:3828790G>T	ENST00000262367.5	-	9	2661	c.1852C>A	c.(1852-1854)Ccc>Acc	p.P618T	CREBBP_ENST00000382070.3_Missense_Mutation_p.P580T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	618	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGCTGCGGGATCAGGTGTT	0.458			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						65	146					3.58576e-35	3.8386e-35	1	0	T	3828790	G	T	3828790	3	4	486	1	0	0	0	0	1	0	0	0	3891	1174	41	2	5568	2	CREBBP	16	3828790	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		3828790	86525963	299	93789											
ALG1	56052	broad.mit.edu	37	chr16	5121861	5121861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagccaagatggcggcctCatgcttggtcctgctggcgc	5	8	14	14	2	1	1	1	0	0	1	2	1	2	1	4	4	3	2	4	4	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:5121861C>T	ENST00000262374.5	+	1	42	c.11C>T	c.(10-12)tCa>tTa	p.S4L	ALG1_ENST00000588623.1_Intron	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	4					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ATGGCGGCCTCATGCTTGGTC	0.716													9	10					0	0	0	0	T	5121861	C	T	5121861	3	4	486	1	0	0	0	0	1	0	0	0	510	838	29	2	13	2	ALG1	16	5121861	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1293071	5121861	85232892	300	93790											
TMEM186	25880	broad.mit.edu	37	chr16	8889890	8889890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatagcgcagggtgacgtaGaaggtctgtttcccactgta	9	10	12	10	2	1	2	0	1	1	1	2	2	2	2	2	2	1	4	2	2	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:8889890G>C	ENST00000333050.6	-	2	594	c.561C>G	c.(559-561)ttC>ttG	p.F187L	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	187						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGGTGACGTAGAAGGTCTGTT	0.537													52	124					0	0	0	0	C	8889890	G	C	8889890	3	2	486	1	0	0	0	0	1	0	0	0	16202	933	33	2	84	2	TMEM186	16	8889890	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3768029	8889890	81464863	301	93791											
MKL2	57496	broad.mit.edu	37	chr16	14340849	14340849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgcaagcttcaggagaaaGagaagcaaatcgaagagctg	17	5	12	7	2	1	3	1	0	0	3	3	6	1	3	0	1	3	4	0	1	5	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:14340849G>C	ENST00000571589.1	+	12	1904	c.1732G>C	c.(1732-1734)Gag>Cag	p.E578Q	MKL2_ENST00000574045.1_Missense_Mutation_p.E578Q|MKL2_ENST00000318282.5_Missense_Mutation_p.E578Q|MKL2_ENST00000341243.5_Missense_Mutation_p.E567Q	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	567	Required for interaction with itself and with MKL1.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGGAGAAAGAGAAGCAAAT	0.478													21	42					0	0	0	0	C	14340849	G	C	14340849	3	2	486	1	0	0	0	0	1	0	0	0	9671	943	33	2	1770	2	MKL2	16	14340849	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5450959	14340849	76013904	302	93792											
PPP4C	5531	broad.mit.edu	37	chr16	30094768	30094768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaaccatgagagtcgccaGatcacgcaggtctatggctt	10	8	12	11	2	2	2	1	1	1	2	3	3	2	2	2	3	1	3	2	3	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:30094768G>C	ENST00000279387.7	+	6	525	c.357G>C	c.(355-357)caG>caC	p.Q119H	PPP4C_ENST00000561610.1_Missense_Mutation_p.Q119H	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	119					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						AGAGTCGCCAGATCACGCAGG	0.592													26	78					0	0	0	0	C	30094768	G	C	30094768	3	2	486	1	0	0	0	0	1	0	0	0	12478	933	33	2	375	2	PPP4C	16	30094768	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	15753919	30094768	60259985	303	93793											
SETD1A	9739	broad.mit.edu	37	chr16	30976735	30976735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcacctacagggagcgggGagccaggggctacccgggag	8	3	19	11	2	0	0	0	0	0	0	0	3	0	3	3	7	4	2	3	7	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:30976735G>A	ENST00000262519.8	+	7	2358	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	558	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGGAGCGGGGAGCCAGGGGC	0.637													53	126					0	0	0	0	A	30976735	G	A	30976735	3	1	486	1	0	0	0	0	1	0	0	0	14217	1175	41	2	1694	2	SETD1A	16	30976735	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	881967	30976735	59378018	304	93794											
ABCC11	85320	broad.mit.edu	37	chr16	48249115	48249115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactttccataccttcaatGatttttgcaaatggtttctc	10	17	5	9	0	2	2	1	1	1	1	4	2	3	2	2	1	2	2	2	1	3	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:48249115G>A	ENST00000394747.1	-	7	1441	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	ABCC11_ENST00000356608.2_Silent_p.I364I|ABCC11_ENST00000353782.5_Silent_p.I364I|ABCC11_ENST00000537808.1_Silent_p.I364I|ABCC11_ENST00000394748.1_Silent_p.I364I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	364	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I364I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TACCTTCAATGATTTTTGCAA	0.443													52	150					0	0	0	0	A	48249115	G	A	48249115	2	1	486	1	0	0	0	0	0	0	0	1	51	1280	45	2		2	ABCC11	16	48249115	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	17272380	48249115	42105638	305	93795											
NLRC5	84166	broad.mit.edu	37	chr16	57075484	57075484	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcggtcacctccacctCgagtgagtggtttgtgtgtt	5	13	11	12	2	1	1	1	1	0	0	4	2	2	1	4	2	0	2	4	2	0	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:57075484C>A	ENST00000436936.1	+	18	3252	c.3027C>A	c.(3025-3027)ctC>ctA	p.L1009L	NLRC5_ENST00000262510.6_Silent_p.L1009L|NLRC5_ENST00000539144.1_Silent_p.L1009L|NLRC5_ENST00000308149.7_Silent_p.L1009L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1009					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTCCACCTCGAGTGAGTGG	0.522													25	55					4.59853e-10	4.74046e-10	1	0	A	57075484	C	A	57075484	2	1	486	1	0	0	0	0	0	0	0	1	10540	871	31	3		3	NLRC5	16	57075484	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	8826369	57075484	33279269	306	93796											
CNOT1	23019	broad.mit.edu	37	chr16	58621779	58621779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactcctgaatcagaaactGagtctttaaaaataaaaaat	20	10	4	7	0	2	3	1	2	1	1	3	3	3	3	1	0	1	0	1	0	8	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:58621779G>C	ENST00000317147.5	-	4	546	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	CNOT1_ENST00000569240.1_Missense_Mutation_p.Q72E|CNOT1_ENST00000441024.2_Missense_Mutation_p.Q72E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	72					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAGAAACTGAGTCTTTAAA	0.353													22	30					0	0	0	0	C	58621779	G	C	58621779	3	2	486	1	0	0	0	0	1	0	0	0	3647	1299	45	2	7322	2	CNOT1	16	58621779	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1546295	58621779	31732974	307	93797											
SF3B3	23450	broad.mit.edu	37	chr16	70599151	70599151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactggaccttgtccagctgGaacagaatgaggcagctttt	10	10	11	10	0	0	2	0	1	0	1	1	4	1	4	2	3	3	3	2	3	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:70599151G>C	ENST00000302516.5	+	19	2858	c.2647G>C	c.(2647-2649)Gaa>Caa	p.E883Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	883					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGTCCAGCTGGAACAGAATGA	0.532													25	65					0	0	0	0	C	70599151	G	C	70599151	3	2	486	1	0	0	0	0	1	0	0	0	14239	1175	41	2	2717	2	SF3B3	16	70599151	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	11977372	70599151	19755602	308	93798											
ADAMTS18	170692	broad.mit.edu	37	chr16	77465343	77465343	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactgctcaaaatcgccGagggcttaagttctaagtgc	11	10	11	9	2	2	1	1	1	1	0	3	2	2	1	1	1	2	3	1	1	4	3	rs145596475		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:77465343G>T	ENST00000282849.5	-	3	762	c.344C>A	c.(343-345)tCg>tAg	p.S115*	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	115					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S115L(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						CAAAATCGCCGAGGGCTTAAG	0.488													84	146					5.71386e-39	6.12986e-39	1	0	T	77465343	G	T	77465343	4	4	486	1	0	0	0	0	0	1	0	0	263	1059	37	3	3405	3	ADAMTS18	16	77465343	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	6866192	77465343	12889410	309	93799											
C16orf46	123775	broad.mit.edu	37	chr16	81094975	81094975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcactccccgtttctgcaGaagctgcaaggcagcaaggt	9	9	11	12	1	1	1	0	0	1	1	2	1	2	1	2	2	5	7	2	2	3	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:81094975G>C	ENST00000378611.4	-	3	1094	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V	C16orf46_ENST00000299578.5_Missense_Mutation_p.L327V|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	327										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CGTTTCTGCAGAAGCTGCAAG	0.552													34	85					0	0	0	0	C	81094975	G	C	81094975	3	2	486	1	0	0	0	0	1	0	0	0	1828	933	33	2	240	2	C16orf46	16	81094975	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3629632	81094975	9259778	310	93800											
USP10	9100	broad.mit.edu	37	chr16	84806171	84806171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agataagtcgaagagtgactCtggaaaaactccctcctgtc	13	9	9	10	1	1	3	0	1	1	2	5	5	3	4	2	1	1	0	2	1	4	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:84806171C>G	ENST00000219473.7	+	12	2136	c.2023C>G	c.(2023-2025)Ctg>Gtg	p.L675V	USP10_ENST00000570191.1_Missense_Mutation_p.L679V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	675					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGAGTGACTCTGGAAAAACT	0.473													76	158					0	0	0	0	G	84806171	C	G	84806171	3	3	486	1	0	0	0	0	1	0	0	0	17137	912	32	2	2069	2	USP10	16	84806171	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	3711196	84806171	5548582	311	93801											
ANKRD11	29123	broad.mit.edu	37	chr16	89350644	89350644	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttgagggccggtcttttGatttcttctttctctcctct	3	21	7	10	1	5	2	0	2	5	0	7	2	6	2	2	2	0	0	2	2	0	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:89350644G>C	ENST00000301030.4	-	9	2766	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S769*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	769	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGGTCTTTTGATTTCTTCTT	0.348													28	94					0	0	0	0	C	89350644	G	C	89350644	4	2	486	1	0	0	0	0	0	1	0	0	639	1294	45	2	5705	2	ANKRD11	16	89350644	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	4544473	89350644	1004109	312	93802											
SPG7	6687	broad.mit.edu	37	chr16	89579436	89579436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaaggggaaggcgcctgaaGaggacgaaggtatattcatc	13	6	15	7	3	1	2	1	1	0	1	2	6	1	4	1	5	0	1	1	5	6	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:89579436G>A	ENST00000268704.2	+	3	382	c.367G>A	c.(367-369)Gag>Aag	p.E123K	SPG7_ENST00000341316.2_Missense_Mutation_p.E123K	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	123					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ggCGCCTGAAGAGGACGAAGG	0.418													6	14					0	0	0	0	A	89579436	G	A	89579436	3	1	486	1	0	0	0	0	1	0	0	0	15134	943	33	2	377	2	SPG7	16	89579436	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	228792	89579436	775317	313	93803											
CAMKK1	84254	broad.mit.edu	37	chr17	3775883	3775883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgggctcattcttgatcttCctgtggagggccaggatgaa	8	11	13	9	1	3	2	1	2	2	0	4	4	4	4	2	4	0	1	2	4	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:3775883C>T	ENST00000381771.2	-	13	1350	c.1203G>A	c.(1201-1203)agG>agA	p.R401R	CAMKK1_ENST00000348335.2_Silent_p.R363R|CAMKK1_ENST00000381769.2_Silent_p.R390R|CAMKK1_ENST00000158166.5_Silent_p.R401R			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	363	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCTTGATCTTCCTGTGGAGGG	0.582													27	48					0	0	0	0	T	3775883	C	T	3775883	2	4	486	1	0	0	0	0	0	0	0	1	2631	854	30	2		2	CAMKK1	17	3775883	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		3775883	77419327	314	93804											
RABEP1	9135	broad.mit.edu	37	chr17	5235282	5235282	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtattacaagctgcaCaagatgatttgggacacctt	13	11	9	8	0	0	2	0	1	0	1	0	3	0	3	1	1	4	4	1	1	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:5235282C>T	ENST00000262477.6	+	3	426	c.202C>T	c.(202-204)Caa>Taa	p.Q68*	RABEP1_ENST00000341923.6_Nonsense_Mutation_p.Q68*|RABEP1_ENST00000546142.2_Nonsense_Mutation_p.Q68*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.Q25*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.Q68*	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	68					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACAAGCTGCACAAGATGATTT	0.433													37	69					0	0	0	0	T	5235282	C	T	5235282	4	4	486	1	0	0	0	0	0	1	0	0	13043	479	17	4	212	4	RABEP1	17	5235282	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1459399	5235282	75959928	315	93805											
MED31	51003	broad.mit.edu	37	chr17	6553733	6553733	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttccaactccaactgaaaccGaagtcgatttccagcatcat	13	10	5	13	2	1	1	1	1	0	0	5	3	4	1	4	0	4	1	4	0	4	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:6553733G>C	ENST00000225728.3	-	2	154	c.49C>G	c.(49-51)Cgg>Ggg	p.R17G	MED31_ENST00000575197.1_Missense_Mutation_p.R17G|MED31_ENST00000574128.1_5'UTR	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						AACTGAAACCGAAGTCGATTT	0.348													79	199					0	0	0	0	C	6553733	G	C	6553733	3	2	486	1	0	0	0	0	1	0	0	0	9518	1057	37	3	358	3	MED31	17	6553733	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1318451	6553733	74641477	316	93806											
XAF1	54739	broad.mit.edu	37	chr17	6663752	6663752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgccaggagcgccctgttGagtgtaagttctgcaaactg	9	10	13	9	1	1	1	0	1	1	0	1	2	1	2	2	1	4	4	2	1	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:6663752G>C	ENST00000361842.3	+	4	492	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	XAF1_ENST00000441631.1_Missense_Mutation_p.E85Q|XAF1_ENST00000346752.4_Missense_Mutation_p.E66Q|XAF1_ENST00000438512.1_Missense_Mutation_p.E85Q	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	85			E -> G (in dbSNP:rs34195599).		apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GCGCCCTGTTGAGTGTAAGTT	0.527													8	20					0	0	0	0	C	6663752	G	C	6663752	3	2	486	1	0	0	0	0	1	0	0	0	17515	1291	45	2	267	2	XAF1	17	6663752	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	110019	6663752	74531458	317	93807											
CHRNB1	1140	broad.mit.edu	37	chr17	7359130	7359130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggttccagcctgaactgtCtgcccctgatctgcggcgat	6	10	11	14	2	2	2	0	2	2	0	3	3	3	2	4	2	4	1	4	2	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:7359130C>G	ENST00000306071.2	+	10	1302	c.1235C>G	c.(1234-1236)tCt>tGt	p.S412C	CHRNB1_ENST00000536404.2_Missense_Mutation_p.S340C|CHRNB1_ENST00000576360.1_Missense_Mutation_p.S291C|CHRNB1_ENST00000575379.1_5'UTR	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	412					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CCTGAACTGTCTGCCCCTGAT	0.622													34	80					0	0	0	0	G	7359130	C	G	7359130	3	3	486	1	0	0	0	0	1	0	0	0	3419	913	32	2	1273	2	CHRNB1	17	7359130	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	695378	7359130	73836080	318	93808											
SARM1	23098	broad.mit.edu	37	chr17	26722953	26722953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgctttaagctgcggcaaGaacattgtgcccatcattga	11	11	9	10	1	1	2	1	1	0	1	1	2	1	2	1	1	5	3	1	1	3	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:26722953G>C	ENST00000457710.3	+	8	2322	c.1851G>C	c.(1849-1851)aaG>aaC	p.K617N	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR|SLC46A1_ENST00000440501.1_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	651	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCTGCGGCAAGAACATTGTGC	0.537													34	90					0	0	0	0	C	26722953	G	C	26722953	3	2	486	1	0	0	0	0	1	0	0	0	13928	933	33	2	1981	2	SARM1	17	26722953	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	19363823	26722953	54472257	319	93809											
NUFIP2	57532	broad.mit.edu	37	chr17	27614198	27614208	+	Frame_Shift_Del	DEL	GATTTCCCTTT	GATTTCCCTTT	-																															gggcttcgaaccatctactcGatttcccttttgttcactat																										TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:27614198_27614208delGATTTCCCTTT	ENST00000225388.4	-	2	862_872	c.804_814delAAAGGGAAATC	c.(802-816)cagafs	p.QKGNR268fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	268						nucleus|polysomal ribosome	protein binding|RNA binding	p.R272*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCATCTACTCGATTTCCCTTTTGTTCACTAT	0.431													45	192	---	---	---	---					-	27614208	GATTTCCCTTT	-	27614198	7	5	486	1	0	1	0	1	0	0	0	0	10820	1066	37	0	1285	0	NUFIP2	17	27614198	Frame_Shift_Del	DEL	GATTTCCCTTT	TCGA-T2-A6X2-01A-12D-A34J-08	891245	27614198	53581012	320	93810											
SSH2	85464	broad.mit.edu	37	chr17	27959456	27959456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcttacgagtggacaatGaggtacatgttggggcagca	12	10	13	6	1	1	1	0	1	1	0	1	3	1	2	0	4	3	4	0	4	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:27959456G>A	ENST00000269033.3	-	15	2826	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S919L	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	892					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGGACAATGAGGTACATGT	0.517													102	233					0	0	0	0	A	27959456	G	A	27959456	3	1	486	1	0	0	0	0	1	0	0	0	15275	1294	45	2	1600	2	SSH2	17	27959456	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	345258	27959456	53235754	321	93811											
CDC6	990	broad.mit.edu	37	chr17	38451700	38451700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcgcaaagcactggaTgtttgcaggtgagttacggc	9	11	14	7	2	0	1	0	1	0	0	1	3	0	2	0	3	3	6	0	3	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38451700T>C	ENST00000209728.4	+	8	1647	c.1176T>C	c.(1174-1176)gaT>gaC	p.D392D		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	392					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AAGCACTGGATGTTTGCAGGT	0.398													53	114					0	0	0	0	C	38451700	T	C	38451700	2	2	486	1	0	0	0	0	0	0	0	1	3112	1461	51	5		5	CDC6	17	38451700	Silent	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	10492244	38451700	42743510	322	93812											
RARA	5914	broad.mit.edu	37	chr17	38512358	38512358	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagggcctggacactctGagcggacagccggggggtgg	7	5	19	10	2	2	2	1	1	1	1	2	4	2	4	2	7	2	0	2	7	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38512358G>A	ENST00000254066.5	+	9	1724	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	RARA_ENST00000425707.3_Silent_p.L326L|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Silent_p.L423L|RARA_ENST00000394081.3_Silent_p.L418L|RARA_ENST00000394086.3_Silent_p.L439L	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	423					apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGGACACTCTGAGCGGACAGC	0.687			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL								3	7					0	0	0	0	A	38512358	G	A	38512358	2	1	486	1	0	0	0	0	0	0	0	1	13134	1277	45	2		2	RARA	17	38512358	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	60658	38512358	42682852	323	93813											
TOP2A	7153	broad.mit.edu	37	chr17	38546327	38546327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggcaggatcaggcttttGagagacaccagaattcaaag	13	10	11	7	0	2	3	2	1	0	2	2	5	2	4	1	3	0	2	1	3	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38546327G>C	ENST00000423485.1	-	34	4515	c.4357C>G	c.(4357-4359)Caa>Gaa	p.Q1453E		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1453					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCAGGCTTTTGAGAGACACCA	0.448													15	25					0	0	0	0	C	38546327	G	C	38546327	3	2	486	1	0	0	0	0	1	0	0	0	16460	1299	45	2	246	2	TOP2A	17	38546327	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	33969	38546327	42648883	324	93814											
DHX58	79132	broad.mit.edu	37	chr17	40263444	40263444	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtggtcccatgtccccactCagggttgtcacggtccagcg	5	9	12	15	3	2	0	2	0	0	0	5	0	5	0	4	3	1	1	4	3	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:40263444C>G	ENST00000251642.3	-	4	462	c.240G>C	c.(238-240)ctG>ctC	p.L80L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	80	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTCCCCACTCAGGGTTGTCA	0.612													11	47					0	0	0	0	G	40263444	C	G	40263444	2	3	486	1	0	0	0	0	0	0	0	1	4551	813	29	2		2	DHX58	17	40263444	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1717117	40263444	40931766	325	93815											
FAM134C	162427	broad.mit.edu	37	chr17	40761330	40761330	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcgtgggaaccccttCggcctcagccatctccccgc	4	8	12	17	3	2	0	1	0	1	0	5	1	2	1	6	4	2	0	6	4	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:40761330C>A	ENST00000309428.5	-	1	72	c.13G>T	c.(13-15)Gaa>Taa	p.E5*	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	5						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGAACCCCTTCGGCCTCAGCC	0.687													15	43					3.41278e-10	3.53265e-10	1	0	A	40761330	C	A	40761330	4	1	486	1	0	0	0	0	0	1	0	0	5488	893	31	3	1423	3	FAM134C	17	40761330	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	497886	40761330	40433880	326	93816											
SPAG9	9043	broad.mit.edu	37	chr17	49157043	49157043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttttttcctgttcttgaGagtcttcaaattcaatgaat	9	19	5	8	0	4	2	2	2	2	1	5	3	5	2	2	0	0	1	2	0	3	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:49157043G>C	ENST00000262013.7	-	2	534	c.326C>G	c.(325-327)tCt>tGt	p.S109C	SPAG9_ENST00000505279.1_Missense_Mutation_p.S109C|SPAG9_ENST00000357122.4_Missense_Mutation_p.S109C|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	109					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTTCTTGAGAGTCTTCAAA	0.318													33	102					0	0	0	0	C	49157043	G	C	49157043	3	2	486	1	0	0	0	0	1	0	0	0	15075	942	33	2	3755	2	SPAG9	17	49157043	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	8395713	49157043	32038167	327	93817											
AKAP1	8165	broad.mit.edu	37	chr17	55184348	55184348	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttctccaggacactgctCagattctttcagcacttcag	8	12	8	13	0	5	1	3	0	2	1	6	2	5	2	1	2	2	3	1	2	0	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:55184348C>G	ENST00000337714.3	+	2	1756	c.1523C>G	c.(1522-1524)tCa>tGa	p.S508*	AKAP1_ENST00000314126.3_Nonsense_Mutation_p.S508*|AKAP1_ENST00000539273.1_Nonsense_Mutation_p.S508*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.S508*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.S508*	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	508					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GGACACTGCTCAGATTCTTTC	0.582													54	158					0	0	0	0	G	55184348	C	G	55184348	4	3	486	1	0	0	0	0	0	1	0	0	445	838	29	2	1525	2	AKAP1	17	55184348	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	6027305	55184348	26010862	328	93818											
C17orf58	284018	broad.mit.edu	37	chr17	65988155	65988155	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggcggcctctcaggacctgGagcagagctgtagggagctg	8	6	17	10	1	1	1	1	0	1	1	2	4	1	4	2	5	3	4	2	5	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:65988155G>C	ENST00000449250.2	-	3	357	c.168C>G	c.(166-168)ctC>ctG	p.L56L	C17orf58_ENST00000536693.1_3'UTR|C17orf58_ENST00000334461.7_3'UTR			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	56										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCAGGACCTGGAGCAGAGCTG	0.502													28	114					0	0	0	0	C	65988155	G	C	65988155	2	2	486	1	0	0	0	0	0	0	0	1	1881	1161	41	2		2	C17orf58	17	65988155	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	10803807	65988155	15207055	329	93819											
ABCA8	10351	broad.mit.edu	37	chr17	66878814	66878814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatcttcatcctctccttCtggttcttctggattttgac	6	18	5	12	0	6	1	1	1	5	0	8	2	7	2	2	2	1	1	2	2	1	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:66878814C>G	ENST00000269080.2	-	28	3771	c.3634G>C	c.(3634-3636)Gaa>Caa	p.E1212Q	ABCA8_ENST00000430352.2_Missense_Mutation_p.E1252Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1252Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1212						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCTCTCCTTCTGGTTCTTCT	0.343													28	79					0	0	0	0	G	66878814	C	G	66878814	3	3	486	1	0	0	0	0	1	0	0	0	38	922	32	2	1155	2	ABCA8	17	66878814	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	890659	66878814	14316396	330	93820											
TMEM104	54868	broad.mit.edu	37	chr17	72832685	72832685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgccgcagggacacccaGctggcctttggctgtggggt	5	8	15	13	1	0	0	0	0	0	0	0	1	0	1	3	5	2	3	3	5	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:72832685G>A	ENST00000335464.5	+	10	1512	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.Q450Q	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	450						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGGACACCCAGCTGGCCTTTG	0.632													19	58					0	0	0	0	A	72832685	G	A	72832685	2	1	486	1	0	0	0	0	0	0	0	1	16112	962	34	4		4	TMEM104	17	72832685	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5953871	72832685	8362525	331	93821											
CASKIN2	57513	broad.mit.edu	37	chr17	73498434	73498434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggggccagcaggttcactCagtgttcgccttcggggccc	5	8	15	13	2	2	0	2	0	0	0	4	1	2	0	3	5	1	3	3	5	0	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:73498434C>T	ENST00000321617.3	-	18	3307	c.2721G>A	c.(2719-2721)ctG>ctA	p.L907L	CASKIN2_ENST00000433559.2_Silent_p.L825L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	907	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGTTCACTCAGTGTTCGCC	0.721													4	5					0	0	0	0	T	73498434	C	T	73498434	2	4	486	1	0	0	0	0	0	0	0	1	2692	813	29	2		2	CASKIN2	17	73498434	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	665749	73498434	7696776	332	93822											
LLGL2	3993	broad.mit.edu	37	chr17	73568131	73568131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagctgctcgtcgtatcaGaggagcagttcaaggtgcca	10	8	12	11	2	2	1	2	0	0	1	4	2	2	2	2	2	4	5	2	2	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:73568131G>C	ENST00000392550.3	+	19	2563	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	LLGL2_ENST00000577200.1_Missense_Mutation_p.E816Q|LLGL2_ENST00000167462.5_Missense_Mutation_p.E816Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	816					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGTCGTATCAGAGGAGCAGTT	0.637													10	18					0	0	0	0	C	73568131	G	C	73568131	3	2	486	1	0	0	0	0	1	0	0	0	8889	943	33	2	2551	2	LLGL2	17	73568131	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	69697	73568131	7627079	333	93823											
DNAH17	8632	broad.mit.edu	37	chr17	76440870	76440870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atttttgaactcatccatctCcgagagggcctaggggcaga	10	10	11	10	1	2	3	1	1	1	2	4	4	3	3	3	3	1	1	3	3	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:76440870C>G	ENST00000389840.5	-	71	11426	c.11302G>C	c.(11302-11304)Gag>Cag	p.E3768Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.E3777Q|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCATCCATCTCCGAGAGGGCC	0.577													9	36					0	0	0	0	G	76440870	C	G	76440870	3	3	486	1	0	0	0	0	1	0	0	0	4638	864	30	2	2088	2	DNAH17	17	76440870	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2872739	76440870	4754340	334	93824											
DNAH17	8632	broad.mit.edu	37	chr17	76567788	76567788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagtctttgctcagcacatCccggatctggtgggaccagt	7	11	12	11	1	3	1	1	1	2	0	4	3	4	3	2	3	2	2	2	3	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:76567788C>T	ENST00000389840.5	-	4	740	c.616G>A	c.(616-618)Gat>Aat	p.D206N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D206N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGCACATCCCGGATCTGG	0.597													34	77					0	0	0	0	T	76567788	C	T	76567788	3	4	486	1	0	0	0	0	1	0	0	0	4638	855	30	2	13084	2	DNAH17	17	76567788	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	126918	76567788	4627422	335	93825											
BAIAP2	10458	broad.mit.edu	37	chr17	79084738	79084738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggaagtggccagattCtgagccgcctgactagagtt	9	10	14	8	1	1	4	0	2	1	2	1	6	1	5	3	2	1	1	3	2	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:79084738C>A	ENST00000575245.1	+	15	1756	c.1659C>A	c.(1657-1659)ttC>ttA	p.F553L	BAIAP2_ENST00000435091.3_Missense_Mutation_p.F520L|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000321300.6_Intron|BAIAP2_ENST00000428708.2_Intron			Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	0					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			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)			TGGCCAGATTCTGAGCCGCCT	0.617													48	68					2.9001e-28	3.09139e-28	1	0	A	79084738	C	A	79084738	3	1	486	1	0	0	0	0	1	0	0	0	1305	912	32	2	1649	2	BAIAP2	17	79084738	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2516950	79084738	2110472	336	93826											
SIRT7	51547	broad.mit.edu	37	chr17	79872537	79872537	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcgcggcagcccactcctCaggtggagcccgtcacagtt	6	7	13	15	3	2	0	2	0	0	0	3	1	3	1	3	3	3	2	3	3	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:79872537C>T	ENST00000328666.6	-	6	584	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	174	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCACTCCTCAGGTGGAGCC	0.642													27	78					0	0	0	0	T	79872537	C	T	79872537	2	4	486	1	0	0	0	0	0	0	0	1	14431	813	29	2		2	SIRT7	17	79872537	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	787799	79872537	1322673	337	93827											
METTL4	64863	broad.mit.edu	37	chr18	2539047	2539047	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatccacatgctgaaatttGagaacttcattgccccaact	13	12	5	11	0	1	2	1	2	0	1	2	3	2	2	3	0	4	1	3	0	4	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:2539047G>C	ENST00000574538.1	-	9	2146	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	METTL4_ENST00000319888.6_3'UTR	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	457					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GCTGAAATTTGAGAACTTCAT	0.393													66	106					0	0	0	0	C	2539047	G	C	2539047	2	2	486	1	0	0	0	0	0	0	0	1	9571	1277	45	2		2	METTL4	18	2539047	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		2539047	75538201	338	93828											
MYOM1	8736	broad.mit.edu	37	chr18	3086125	3086125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctttgtaccacacaatatGagtctccttcttaatatttg	11	17	4	9	0	3	1	0	1	3	0	4	1	3	1	2	0	1	1	2	0	5	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:3086125G>C	ENST00000356443.4	-	30	4495	c.4162C>G	c.(4162-4164)Cat>Gat	p.H1388D	MYOM1_ENST00000261606.7_Missense_Mutation_p.H1292D|MYOM1_ENST00000400569.3_Missense_Mutation_p.H1388D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1388	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACACAATATGAGTCTCCTTC	0.353													10	41					0	0	0	0	C	3086125	G	C	3086125	3	2	486	1	0	0	0	0	1	0	0	0	10161	1290	45	2	931	2	MYOM1	18	3086125	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	547078	3086125	74991123	339	93829											
NPC1	4864	broad.mit.edu	37	chr18	21121106	21121106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcgaaacaaacagctctCtgaggcctggacgcttgttc	11	8	11	11	2	1	1	0	1	1	0	3	4	1	2	1	2	4	3	1	2	3	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:21121106C>T	ENST00000269228.5	-	16	2994	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	NPC1_ENST00000412552.2_Missense_Mutation_p.E496K|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	814					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAACAGCTCTCTGAGGCCTGG	0.463													58	94					0	0	0	0	T	21121106	C	T	21121106	3	4	486	1	0	0	0	0	1	0	0	0	10640	922	32	2	1436	2	NPC1	18	21121106	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	18034981	21121106	56956142	340	93830											
CHST9	83539	broad.mit.edu	37	chr18	24497258	24497258	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagtagatctctcagaattGagtagaagattttccttttt	11	17	7	6	0	2	5	1	1	1	4	4	5	3	5	1	0	0	2	1	0	5	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:24497258G>C	ENST00000284224.8	-	6	574	c.297C>G	c.(295-297)ctC>ctG	p.L99L	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Silent_p.L99L	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	99					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCAGAATTGAGTAGAAGAT	0.408													82	218					0	0	0	0	C	24497258	G	C	24497258	2	2	486	1	0	0	0	0	0	0	0	1	3440	1277	45	2		2	CHST9	18	24497258	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3376152	24497258	53579990	341	93831											
DSG2	1829	broad.mit.edu	37	chr18	29116334	29116334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagtggccctttcagtttCtccgtcattgacaaaccacc	10	11	6	14	1	3	1	2	1	1	0	4	1	3	1	4	1	2	1	4	1	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:29116334C>G	ENST00000261590.8	+	11	1802	c.1593C>G	c.(1591-1593)ttC>ttG	p.F531L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	531					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTTCAGTTTCTCCGTCATTG	0.438													32	51					0	0	0	0	G	29116334	C	G	29116334	3	3	486	1	0	0	0	0	1	0	0	0	4813	912	32	2	1635	2	DSG2	18	29116334	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4619076	29116334	48960914	342	93832											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566424	45566424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttgcgctcttctaccAggggccagggtgggaagagg	7	8	16	10	1	3	1	1	0	2	1	3	2	3	2	2	5	3	2	2	5	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:45566424A>G	ENST00000588982.1	-	3	1556	c.1055T>C	c.(1054-1056)cTg>cCg	p.L352P	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.L352P|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.L352P|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.L352P|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.L352P			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	352						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTCTTCTACCAGGGGCCAGGG	0.642													34	143					0	0	0	0	G	45566424	A	G	45566424	3	3	486	1	0	0	0	0	1	0	0	0	17650	188	7	5	812	5	ZBTB7C	18	45566424	Missense_Mutation	SNP	A	TCGA-T2-A6X2-01A-12D-A34J-08	16450090	45566424	32510824	343	93833											
TSHZ1	10194	broad.mit.edu	37	chr18	73000281	73000281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctgttttcttttgcaaCgattgtgcctctcagttcag	6	17	7	11	1	3	0	2	0	2	0	5	1	4	0	2	0	3	3	2	0	1	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:73000281C>T	ENST00000322038.5	+	2	3368	c.2784C>T	c.(2782-2784)aaC>aaT	p.N928N	TSHZ1_ENST00000580243.1_Silent_p.N973N	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	973						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTTTTGCAACGATTGTGCCT	0.488													31	43					0	0	0	0	T	73000281	C	T	73000281	2	4	486	1	0	0	0	0	0	0	0	1	16718	535	19	1		1	TSHZ1	18	73000281	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	27433857	73000281	5076967	344	93834											
UBXN6	80700	broad.mit.edu	37	chr19	4452474	4452474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgggcagagccttcctCtctgggctcagatacctggg	6	9	14	12	0	2	2	1	0	1	2	4	2	3	2	3	4	2	2	3	4	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:4452474C>T	ENST00000301281.6	-	4	452	c.328G>A	c.(328-330)Gag>Aag	p.E110K	UBXN6_ENST00000394765.3_Missense_Mutation_p.E57K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	110						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GAGCCTTCCTCTCTGGGCTCA	0.657													6	12					0	0	0	0	T	4452474	C	T	4452474	3	4	486	1	0	0	0	0	1	0	0	0	17013	922	32	2	1029	2	UBXN6	19	4452474	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		4452474	54676509	345	93835											
SAFB	6294	broad.mit.edu	37	chr19	5668276	5668276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggggagcaggcccagcGatgcccgcttcactcgccgc	5	4	15	17	5	1	0	1	0	0	0	2	2	1	1	4	3	3	2	4	3	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:5668276G>A	ENST00000292123.5	+	21	2829	c.2722G>A	c.(2722-2724)Gat>Aat	p.D908N	SAFB_ENST00000538656.1_Missense_Mutation_p.D752N|SAFB_ENST00000592224.1_Missense_Mutation_p.D909N|SAFB_ENST00000433404.1_Missense_Mutation_p.D740N|SAFB_ENST00000588852.1_Missense_Mutation_p.D910N|SAFB_ENST00000454510.1_Missense_Mutation_p.D841N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	908	Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAGGCCCAGCGATGCCCGCTT	0.622													23	37					0	0	0	0	A	5668276	G	A	5668276	3	1	486	1	0	0	0	0	1	0	0	0	13891	1058	37	1	2804	1	SAFB	19	5668276	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1215802	5668276	53460707	346	93836											
EVI5L	115704	broad.mit.edu	37	chr19	7928439	7928439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttggcgtaggcgtgggcGctgccctgcaggacgcattg	5	9	16	11	4	0	0	0	0	0	0	0	1	0	1	1	4	3	4	1	4	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:7928439G>A	ENST00000270530.4	+	19	2432	c.2236G>A	c.(2236-2238)Gct>Act	p.A746T	EVI5L_ENST00000538904.2_Missense_Mutation_p.A757T	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	746						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						AGGCGTGGGCGCTGCCCTGCA	0.687													3	10					0	0	0	0	A	7928439	G	A	7928439	3	1	486	1	0	0	0	0	1	0	0	0	5328	1087	38	1	2343	1	EVI5L	19	7928439	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2260163	7928439	51200544	347	93837											
KANK3	256949	broad.mit.edu	37	chr19	8389878	8389879	+	Frame_Shift_Del	DEL	TG	TG	-																															cacccatgcagaagagtctcTggaccacagccatgtcctcc																										TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:8389878_8389879delTG	ENST00000330915.3	-	8	2103_2104	c.2038_2039delCA	c.(2038-2040)gfs	p.Q680fs	KANK3_ENST00000593649.1_Frame_Shift_Del_p.Q680fs	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	680										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GAAGAGTCTCTGGACCACAGCC	0.624													38	102	---	---	---	---					-	8389879	TG	-	8389878	7	5	486	1	0	1	0	1	0	0	0	0	8031	1580	55	0	442	0	KANK3	19	8389878	Frame_Shift_Del	DEL	TG	TCGA-T2-A6X2-01A-12D-A34J-08	461439	8389878	50739105	348	93838											
MUC16	94025	broad.mit.edu	37	chr19	9006375	9006375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtctgcagccagaatacaGagggccaacactggtgctct	11	7	11	12	0	2	2	0	0	2	2	2	2	2	2	2	2	5	2	2	2	3	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9006375G>C	ENST00000397910.4	-	45	39846	c.39643C>G	c.(39643-39645)Ctg>Gtg	p.L13215V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13217	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGAATACAGAGGGCCAACA	0.527													25	131					0	0	0	0	C	9006375	G	C	9006375	3	2	486	1	0	0	0	0	1	0	0	0	10043	933	33	2	4040	2	MUC16	19	9006375	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	616497	9006375	50122608	349	93839											
MUC16	94025	broad.mit.edu	37	chr19	9071203	9071203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtggaatgatgcatggCggcttctgtgtgtgcagtgt	5	15	16	5	1	1	1	0	1	1	0	1	2	1	2	0	3	2	4	0	3	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9071203C>T	ENST00000397910.4	-	3	16446	c.16243G>A	c.(16243-16245)Gcc>Acc	p.A5415T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5417	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A5415T(4)|p.A1048T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGCATGGCGGCTTCTGTG	0.498													6	657					0	0	0	0	T	9071203	C	T	9071203	3	4	486	1	0	0	0	0	1	0	0	0	10043	768	27	1	27608	1	MUC16	19	9071203	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	64828	9071203	50057780	350	93840											
MUC16	94025	broad.mit.edu	37	chr19	9076986	9076986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctattgaaggagatgtgacaGatgacgcagagcttgttttt	11	13	12	5	1	0	6	0	3	0	3	0	7	0	6	0	1	1	3	0	1	2	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9076986G>A	ENST00000397910.4	-	3	10663	c.10460C>T	c.(10459-10461)tCt>tTt	p.S3487F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3488	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATGTGACAGATGACGCAGA	0.502													27	55					0	0	0	0	A	9076986	G	A	9076986	3	1	486	1	0	0	0	0	1	0	0	0	10043	942	33	2	33391	2	MUC16	19	9076986	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5783	9076986	50051997	351	93841											
ZNF709	163051	broad.mit.edu	37	chr19	12577597	12577597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgtagagtttcttctgaGagggacccagcaaagcccac	10	9	10	12	0	3	2	0	1	3	2	3	4	3	3	2	1	2	3	2	1	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:12577597G>C	ENST00000397732.3	-	2	242	c.71C>G	c.(70-72)tCt>tGt	p.S24C	CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.S24C|ZNF709_ENST00000428311.1_Missense_Mutation_p.S24C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTCTTCTGAGAGGGACCCAG	0.458													50	129					0	0	0	0	C	12577597	G	C	12577597	3	2	486	1	0	0	0	0	1	0	0	0	18208	942	33	2	1866	2	ZNF709	19	12577597	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3500611	12577597	46551386	352	93842											
PODNL1	79883	broad.mit.edu	37	chr19	14044020	14044020	+	Frame_Shift_Del	DEL	C	C	-																															gcacgcggtccagcccattgCcatagaggtgcagcgtgtgc																										TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:14044020delC	ENST00000538517.2	-	6	1008	c.764delG	c.(763-765)gcfs	p.G255fs	PODNL1_ENST00000538371.2_Frame_Shift_Del_p.G344fs|PODNL1_ENST00000339560.5_Frame_Shift_Del_p.G346fs|PODNL1_ENST00000254320.3_Frame_Shift_Del_p.G264fs	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	346	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CAGCCCATTGCCATAGAGGTG	0.721													2	4	---	---	---	---					-	14044020	C	-	14044020	7	5	486	1	0	1	0	1	0	0	0	0	12251	739	26	0	505	0	PODNL1	19	14044020	Frame_Shift_Del	DEL	C	TCGA-T2-A6X2-01A-12D-A34J-08	1466423	14044020	45084963	353	93843											
RASAL3	64926	broad.mit.edu	37	chr19	15569357	15569357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacctgaaagcagtggggctCccccaggaggctggggtgca	8	6	16	11	0	0	1	0	1	0	0	1	2	1	2	3	6	3	4	3	6	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:15569357C>T	ENST00000343625.6	-	7	852	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	258	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGTGGGGCTCCCCCAGGAGG	0.622													17	16					0	0	0	0	T	15569357	C	T	15569357	3	4	486	1	0	0	0	0	1	0	0	0	13147	864	30	2	2311	2	RASAL3	19	15569357	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1525337	15569357	43559626	354	93844											
CCDC124	115098	broad.mit.edu	37	chr19	18054452	18054452	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgcagctgaaacagctgctCaagaaggagtggctccgctc	10	7	12	12	2	1	2	1	1	0	1	4	3	2	3	1	2	4	6	1	2	3	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:18054452C>G	ENST00000597436.1	+	5	707	c.600C>G	c.(598-600)ctC>ctG	p.L200L	CCDC124_ENST00000445755.2_Silent_p.L200L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	200							DNA binding			central_nervous_system(1)|kidney(2)	3						AACAGCTGCTCAAGAAGGAGT	0.617													14	36					0	0	0	0	G	18054452	C	G	18054452	2	3	486	1	0	0	0	0	0	0	0	1	2785	813	29	2		2	CCDC124	19	18054452	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2485095	18054452	41074531	355	93845											
ZNF682	91120	broad.mit.edu	37	chr19	20135093	20135093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgtagttctctagcatCactttcctatacaaactctg	9	17	4	11	0	4	0	1	0	3	0	6	0	5	0	1	0	3	3	1	0	5	7			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:20135093C>T	ENST00000397165.2	-	2	256	c.96G>A	c.(94-96)gtG>gtA	p.V32V	ZNF682_ENST00000597972.1_Silent_p.V38V|ZNF682_ENST00000593468.1_Silent_p.V32V|ZNF682_ENST00000595736.1_Intron|ZNF682_ENST00000358523.5_5'UTR|ZNF682_ENST00000596019.1_Silent_p.V32V|ZNF682_ENST00000397162.1_5'UTR	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCTCTAGCATCACTTTCCTAT	0.393													46	100					0	0	0	0	T	20135093	C	T	20135093	2	4	486	1	0	0	0	0	0	0	0	1	18184	813	29	2		2	ZNF682	19	20135093	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2080641	20135093	38993890	356	93846											
ZNF493	284443	broad.mit.edu	37	chr19	21607043	21607043	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtggcaaagcttttaaaCgatcttcaacccttactata	14	13	5	9	1	2	0	1	0	1	0	2	1	2	0	1	1	4	2	1	1	8	6	rs150051672		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:21607043C>T	ENST00000392288.2	+	4	1691	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Nonsense_Mutation_p.R400*	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGCTTTTAAACGATCTTCAAC	0.353													26	64					0	0	0	0	T	21607043	C	T	21607043	4	4	486	1	0	0	0	0	0	1	0	0	18039	528	19	1	1659	1	ZNF493	19	21607043	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1471950	21607043	37521940	357	93847											
ZNF30	90075	broad.mit.edu	37	chr19	35422771	35422771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggtttgcagtatcacGgatcagtgacatttgaggat	10	13	13	5	1	2	2	2	2	0	0	2	4	2	4	0	3	1	3	0	3	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:35422771G>A	ENST00000439785.1	+	3	478	c.34G>A	c.(34-36)Gga>Aga	p.G12R	ZNF30_ENST00000601957.1_Missense_Mutation_p.G12R|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.G12R|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.G12R	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCAGTATCACGGATCAGTGAC	0.453													17	31					0	0	0	0	A	35422771	G	A	35422771	3	1	486	1	0	0	0	0	1	0	0	0	17925	1117	39	1	40	1	ZNF30	19	35422771	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	13815728	35422771	23706212	358	93848											
ETV2	2116	broad.mit.edu	37	chr19	36134282	36134282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgggccccgcccctctCggcccgggccccatccccgc	2	4	10	25	4	1	0	0	0	1	0	3	0	2	0	10	3	0	0	10	3	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:36134282C>T	ENST00000379026.2	+	4	865	c.426C>T	c.(424-426)ctC>ctT	p.L142L	ETV2_ENST00000403402.1_Silent_p.L114L|ETV2_ENST00000402764.2_Silent_p.L114L|ETV2_ENST00000479824.1_Silent_p.L21L|ETV2_ENST00000379023.4_Intron			B9EIN1	B9EIN1_HUMAN	ets variant 2	114							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCCCCTCTCGGCCCGGGCC	0.756													4	2					0	0	0	0	T	36134282	C	T	36134282	2	4	486	1	0	0	0	0	0	0	0	1	5316	871	31	1		1	ETV2	19	36134282	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	711511	36134282	22994701	359	93849											
ZNF790	388536	broad.mit.edu	37	chr19	37310127	37310127	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgaaccacgaataaaggcTtttccacattccttacactc	12	13	4	12	1	0	1	0	1	0	0	3	2	2	1	3	1	2	1	3	1	5	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:37310127T>A	ENST00000356725.4	-	5	1239	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAATAAAGGCTTTTCCACATT	0.398													45	80					0	0	0	0	A	37310127	T	A	37310127	3	1	486	1	0	0	0	0	1	0	0	0	18255	1606	56	5	795	5	ZNF790	19	37310127	Missense_Mutation	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	1175845	37310127	21818856	360	93850											
ZFP30	22835	broad.mit.edu	37	chr19	38134169	38134169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgatcagcacttacctaGagtccatcttcttttctcat	8	15	5	13	0	4	2	2	1	3	1	6	2	5	2	3	0	2	1	3	0	2	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:38134169G>A	ENST00000351218.2	-	5	789	c.232C>T	c.(232-234)Cta>Tta	p.L78L	ZFP30_ENST00000392144.1_Silent_p.L78L|ZFP30_ENST00000514101.2_Silent_p.L78L|ZFP30_ENST00000589018.1_Silent_p.L77L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTTACCTAGAGTCCATCTT	0.478													92	241					0	0	0	0	A	38134169	G	A	38134169	2	1	486	1	0	0	0	0	0	0	0	1	17739	933	33	2		2	ZFP30	19	38134169	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	824042	38134169	20994814	361	93851											
SHKBP1	92799	broad.mit.edu	37	chr19	41086389	41086389	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaacccctccctcaccctCaggtacgtttctatctcgtg	8	11	6	16	2	4	0	2	0	2	0	6	1	5	0	4	1	2	2	4	1	4	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:41086389C>G	ENST00000291842.5	+	7	609	c.560C>G	c.(559-561)tCa>tGa	p.S187*	SHKBP1_ENST00000600733.1_Nonsense_Mutation_p.S187*	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	187						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTCACCCTCAGGTACGTTT	0.617													21	49					0	0	0	0	G	41086389	C	G	41086389	4	3	486	1	0	0	0	0	0	1	0	0	14372	838	29	2	586	2	SHKBP1	19	41086389	Nonsense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2952220	41086389	18042594	362	93852											
ARHGEF1	9138	broad.mit.edu	37	chr19	42397372	42397372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctctaccgacgaagaaaaGaggtgaggggggcaggggag	13	4	18	6	2	1	3	0	1	1	2	2	6	1	4	1	6	1	1	1	6	4	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:42397372G>C	ENST00000599846.1	+	8	767	c.642G>C	c.(640-642)aaG>aaC	p.K214N	ARHGEF1_ENST00000354532.3_Missense_Mutation_p.K214N|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.K229N|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.K196N|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.K181N			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	214	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACGAAGAAAAGAGGtgagggg	0.607													10	20					0	0	0	0	C	42397372	G	C	42397372	3	2	486	1	0	0	0	0	1	0	0	0	895	933	33	2	717	2	ARHGEF1	19	42397372	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1310983	42397372	16731611	363	93853											
ERF	2077	broad.mit.edu	37	chr19	42754669	42754669	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacagctggatctgccttGagccaggggacgactctggc	7	7	14	13	1	2	1	0	1	2	0	2	4	2	3	3	4	3	1	3	4	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:42754669G>C	ENST00000222329.4	-	2	228	c.71C>G	c.(70-72)tCa>tGa	p.S24*	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR|ERF_ENST00000440177.2_5'UTR	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	24					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GATCTGCCTTGAGCCAGGGGA	0.637													11	46					0	0	0	0	C	42754669	G	C	42754669	4	2	486	1	0	0	0	0	0	1	0	0	5259	1294	45	2	1587	2	ERF	19	42754669	Nonsense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	357297	42754669	16374314	364	93854											
PSG3	5671	broad.mit.edu	37	chr19	43237159	43237159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttaagctcacagcctcCatgtcctccctggggtataa	9	10	9	13	0	1	0	1	0	0	0	4	0	4	0	4	3	2	3	4	3	3	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:43237159C>T	ENST00000327495.5	-	3	670	c.486G>A	c.(484-486)atG>atA	p.M162I	PSG3_ENST00000595140.1_Missense_Mutation_p.M162I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	162	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCACAGCCTCCATGTCCTCCC	0.537													6	418					0	0	0	0	T	43237159	C	T	43237159	3	4	486	1	0	0	0	0	1	0	0	0	12735	594	21	4	816	4	PSG3	19	43237159	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	482490	43237159	15891824	365	93855											
ETHE1	23474	broad.mit.edu	37	chr19	44030763	44030763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaacggcctcccgggactCtctgtcacccagcaggtacg	8	6	11	16	3	2	1	1	0	1	1	4	2	3	2	3	3	3	2	3	3	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:44030763C>G	ENST00000600651.1	-	2	153	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	ETHE1_ENST00000292147.2_Missense_Mutation_p.E44Q|ZNF575_ENST00000458714.2_Silent_p.L40L			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	44						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TCCCGGGACTCTCTGTCACCC	0.637													12	34					0	0	0	0	G	44030763	C	G	44030763	3	3	486	1	0	0	0	0	1	0	0	0	5310	922	32	2	658	2	ETHE1	19	44030763	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	793604	44030763	15098220	366	93856											
ERCC2	2068	broad.mit.edu	37	chr19	45860569	45860569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccagcgtcatggtgaaggTtgccatggtgacggggtgga	7	9	18	7	2	1	2	1	2	0	0	1	3	1	3	2	6	3	1	2	6	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:45860569T>C	ENST00000391945.4	-	15	1515	c.1438A>G	c.(1438-1440)Acc>Gcc	p.T480A	ERCC2_ENST00000391944.3_Missense_Mutation_p.T402A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	480	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGGTGAAGGTTGCCATGGTG	0.662			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	28					0	0	0	0	C	45860569	T	C	45860569	3	2	486	1	0	0	0	0	1	0	0	0	5251	1725	60	5	880	5	ERCC2	19	45860569	Missense_Mutation	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	1829806	45860569	13268414	367	93857											
NOVA2	4858	broad.mit.edu	37	chr19	46457193	46457193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtactaggcatacccGctctgtggttcctgttgagc	5	12	11	13	1	1	1	0	1	1	0	2	1	2	1	3	2	3	5	3	2	3	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:46457193G>A	ENST00000263257.5	-	3	435	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	81	KH 1.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		AGGCATACCCGCTCTGTGGTT	0.537													33	81					0	0	0	0	A	46457193	G	A	46457193	3	1	486	1	0	0	0	0	1	0	0	0	10625	1086	38	1	1245	1	NOVA2	19	46457193	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	596624	46457193	12671790	368	93858											
KPTN	11133	broad.mit.edu	37	chr19	47986450	47986450	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctggaacggagtgaactgGagctccaggttcaggcagct	10	7	15	9	1	1	1	1	1	0	0	2	4	2	4	1	5	5	5	1	5	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:47986450G>C	ENST00000338134.3	-	4	524	c.417C>G	c.(415-417)ctC>ctG	p.L139L	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	139					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GAGTGAACTGGAGCTCCAGGT	0.612													73	196					0	0	0	0	C	47986450	G	C	47986450	2	2	486	1	0	0	0	0	0	0	0	1	8489	1161	41	2		2	KPTN	19	47986450	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1529257	47986450	11142533	369	93859											
NTN5	126147	broad.mit.edu	37	chr19	49173889	49173889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagtggaaggtcaccctttCagggccccctaaggccccag	8	6	13	14	0	2	0	2	0	0	0	2	2	2	2	5	5	0	0	5	5	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:49173889C>T	ENST00000270235.4	-	2	450	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	119						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GTCACCCTTTCAGGGCCCCCT	0.701													3	11					0	0	0	0	T	49173889	C	T	49173889	3	4	486	1	0	0	0	0	1	0	0	0	10774	835	29	2	1138	2	NTN5	19	49173889	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1187439	49173889	9955094	370	93860											
PLEKHA4	57664	broad.mit.edu	37	chr19	49362295	49362295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtgtgaggtcgggcagggGgtgctgtgtctcctgagggg	3	9	23	6	1	1	2	0	2	1	0	3	2	1	2	1	7	1	2	1	7	0	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:49362295G>A	ENST00000263265.6	-	8	1349	c.794C>T	c.(793-795)cCc>cTc	p.P265L	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P265L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	265	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCGGGCAGGGGGTGCTGTGTC	0.706													5	14					0	0	0	0	A	49362295	G	A	49362295	3	1	486	1	0	0	0	0	1	0	0	0	12130	1232	43	4	1597	4	PLEKHA4	19	49362295	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	188406	49362295	9766688	371	93861											
LRRC4B	94030	broad.mit.edu	37	chr19	51022143	51022143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcctccagcgacttgAggtcgtcgaaggcgttgcgc	6	9	14	12	5	0	2	0	2	0	0	4	4	2	2	2	2	3	2	2	2	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:51022143A>G	ENST00000599957.1	-	3	1024	c.827T>C	c.(826-828)cTc>cCc	p.L276P	LRRC4B_ENST00000389201.3_Missense_Mutation_p.L276P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	276						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGCGACTTGAGGTCGTCGAA	0.652													4	146					0	0	0	0	G	51022143	A	G	51022143	3	3	486	1	0	0	0	0	1	0	0	0	9071	304	11	5	1318	5	LRRC4B	19	51022143	Missense_Mutation	SNP	A	TCGA-T2-A6X2-01A-12D-A34J-08	1659848	51022143	8106840	372	93862											
ZNF611	81856	broad.mit.edu	37	chr19	53209989	53209989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtcatgaatttctttctCaatttcctggaagcaaaaat	14	15	5	7	0	3	1	2	1	2	0	5	2	4	2	1	1	1	1	1	1	6	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:53209989C>G	ENST00000543227.1	-	6	593	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	ZNF611_ENST00000319783.1_Missense_Mutation_p.E107Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E38Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E38Q|ZNF611_ENST00000600943.1_3'UTR|ZNF611_ENST00000540744.1_Missense_Mutation_p.E107Q|ZNF611_ENST00000453741.2_Missense_Mutation_p.E38Q	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ATTTCTTTCTCAATTTCCTGG	0.398													10	357					0	0	0	0	G	53209989	C	G	53209989	3	3	486	1	0	0	0	0	1	0	0	0	18132	835	29	2	1802	2	ZNF611	19	53209989	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2187846	53209989	5918994	373	93863											
ZNF28	7576	broad.mit.edu	37	chr19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttccatgtgtgatttgCgactgaaaactttctcacat	9	16	7	9	1	2	2	1	2	2	0	4	3	3	2	1	0	2	0	1	0	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:53303413C>T	ENST00000438150.2	-	2	2419	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ZNF28_ENST00000457749.2_Missense_Mutation_p.R562H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H			P17035	ZNF28_HUMAN	zinc finger protein 28	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413													45	151					0	0	0	0	T	53303413	C	T	53303413	3	4	486	1	0	0	0	0	1	0	0	0	17908	768	27	1	475	1	ZNF28	19	53303413	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	93424	53303413	5825570	374	93864											
TNNI3	7137	broad.mit.edu	37	chr19	55663241	55663241	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcggccctccattccactCagtgcatcgatgttcttgcg	5	13	9	14	3	2	0	1	0	1	0	5	1	4	0	3	1	3	2	3	1	0	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:55663241C>G	ENST00000344887.5	-	8	736	c.594G>C	c.(592-594)ctG>ctC	p.L198L	TNNI3_ENST00000588882.1_Silent_p.L173L	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	198					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCATTCCACTCAGTGCATCGA	0.557													22	46					0	0	0	0	G	55663241	C	G	55663241	2	3	486	1	0	0	0	0	0	0	0	1	16422	813	29	2		2	TNNI3	19	55663241	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2359828	55663241	3465742	375	93865											
ZNF773	374928	broad.mit.edu	37	chr19	58017977	58017977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaggtgactcacacgggaGagaagtcacataggagctcc	13	5	12	11	1	2	2	2	1	0	1	3	5	3	4	2	3	1	1	2	3	2	1	rs139805602	by1000genomes	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:58017977G>C	ENST00000282292.4	+	4	654	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.E171Q	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TCACACGGGAGAGAAGTCACA	0.478													8	35					0	0	0	0	C	58017977	G	C	58017977	3	2	486	1	0	0	0	0	1	0	0	0	18239	943	33	2	528	2	ZNF773	19	58017977	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2354736	58017977	1111006	376	93866											
NSFL1C	55968	broad.mit.edu	37	chr20	1424538	1424538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgggcatccacgatgaaGagtcggatgtcgctgatcct	8	8	14	11	4	0	3	0	2	0	1	4	5	2	4	3	3	0	2	3	3	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:1424538G>A	ENST00000216879.4	-	9	1836	c.969C>T	c.(967-969)ctC>ctT	p.L323L	NSFL1C_ENST00000350991.4_Silent_p.L325L|NSFL1C_ENST00000381658.4_Silent_p.L212L|NSFL1C_ENST00000476071.1_Silent_p.L325L|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Silent_p.L292L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	323	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCACGATGAAGAGTCGGATGT	0.572													5	24					0	0	0	0	A	1424538	G	A	1424538	2	1	486	1	0	0	0	0	0	0	0	1	10743	929	33	2		2	NSFL1C	20	1424538	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		1424538	61600982	377	93867											
TGM6	343641	broad.mit.edu	37	chr20	2375932	2375932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcagcaagggaggctCagatggagaaaactctgacc	14	4	14	9	0	2	3	1	1	1	2	2	6	2	5	1	4	3	3	1	4	3	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:2375932C>A	ENST00000202625.2	+	3	335	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	TGM6_ENST00000381423.1_Missense_Mutation_p.Q92K|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	92					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AAGGGAGGCTCAGATGGAGAA	0.612													20	36					5.35267e-07	5.47283e-07	1	0	A	2375932	C	A	2375932	3	1	486	1	0	0	0	0	1	0	0	0	15928	827	29	2	284	2	TGM6	20	2375932	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	951394	2375932	60649588	378	93868											
TMC2	117532	broad.mit.edu	37	chr20	2593870	2593870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgacggtgtctgacatgCtggtaacgtacatcaccatc	9	10	11	11	2	2	2	1	2	1	0	3	2	2	2	1	3	3	4	1	3	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:2593870C>T	ENST00000358864.1	+	14	1789	c.1774C>T	c.(1774-1776)Ctg>Ttg	p.L592L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	592						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTCTGACATGCTGGTAACGTA	0.547													21	55					0	0	0	0	T	2593870	C	T	2593870	2	4	486	1	0	0	0	0	0	0	0	1	16079	796	28	4		4	TMC2	20	2593870	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	217938	2593870	60431650	379	93869											
ADAM33	80332	broad.mit.edu	37	chr20	3657786	3657786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccagccccatgtctggcttcGagacctgggcaagaaaatgt	10	8	11	12	1	1	2	0	0	1	2	2	3	1	2	4	2	1	2	4	2	3	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:3657786G>C	ENST00000356518.2	-	3	423	c.182C>G	c.(181-183)tCg>tGg	p.S61W	ADAM33_ENST00000379861.4_Missense_Mutation_p.S61W|ADAM33_ENST00000350009.2_Missense_Mutation_p.S61W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	61					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GTCTGGCTTCGAGACCTGGGC	0.642													7	32					0	0	0	0	C	3657786	G	C	3657786	3	2	486	1	0	0	0	0	1	0	0	0	250	1059	37	3	2339	3	ADAM33	20	3657786	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	1063916	3657786	59367734	380	93870											
PLCB1	23236	broad.mit.edu	37	chr20	8769168	8769168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagctcaaagaaatctgtGagaagtaagccctcattccc	15	8	8	10	0	3	3	2	1	1	3	4	4	4	3	2	0	2	2	2	0	5	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:8769168G>C	ENST00000378641.3	+	28	3659	c.3184G>C	c.(3184-3186)Gag>Cag	p.E1062Q	PLCB1_ENST00000338037.6_Missense_Mutation_p.E1062Q|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E1062Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1062					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAATCTGTGAGAAGTAAGC	0.358													16	31					0	0	0	0	C	8769168	G	C	8769168	3	2	486	1	0	0	0	0	1	0	0	0	12099	1291	45	2	3294	2	PLCB1	20	8769168	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	5111382	8769168	54256352	381	93871											
CD93	22918	broad.mit.edu	37	chr20	23066032	23066032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtggcagcccccattgttGaagttgcagccatacttggg	7	11	13	10	0	0	1	0	1	0	0	0	1	0	1	3	3	4	4	3	3	2	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:23066032G>A	ENST00000246006.4	-	1	945	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	266	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCCATTGTTGAAGTTGCAGC	0.607													64	125					0	0	0	0	A	23066032	G	A	23066032	2	1	486	1	0	0	0	0	0	0	0	1	3076	1281	45	2		2	CD93	20	23066032	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	14296864	23066032	39959488	382	93872											
NINL	22981	broad.mit.edu	37	chr20	25436402	25436402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgctcttctgtggctttCagctgtttctcatgttcttc	3	18	7	13	1	5	0	2	0	4	0	7	0	5	0	1	1	1	5	1	1	0	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:25436402C>T	ENST00000278886.6	-	23	3937	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_ENST00000422516.1_Silent_p.L939L|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1288					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGGCTTTCAGCTGTTTCT	0.537													108	263					0	0	0	0	T	25436402	C	T	25436402	2	4	486	1	0	0	0	0	0	0	0	1	10490	813	29	2		2	NINL	20	25436402	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2370370	25436402	37589118	383	93873											
NCOA6	23054	broad.mit.edu	37	chr20	33342641	33342641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggattggcctgtcctgctGagaagccaggtgggaggcgt	6	9	17	9	2	0	1	0	1	0	1	2	4	1	3	3	5	2	1	3	5	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:33342641G>A	ENST00000374796.2	-	9	4129	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	NCOA6_ENST00000359003.2_Missense_Mutation_p.S520L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	520	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGTCCTGCTGAGAAGCCAGG	0.468													28	55					0	0	0	0	A	33342641	G	A	33342641	3	1	486	1	0	0	0	0	1	0	0	0	10303	1294	45	2	4664	2	NCOA6	20	33342641	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	7906239	33342641	29682879	384	93874											
DIDO1	11083	broad.mit.edu	37	chr20	61513015	61513015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgcttcttctaagatggtCtcatcctcggggtcataggc	6	14	10	11	2	4	1	2	0	3	1	8	1	5	1	1	4	0	1	1	4	2	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:61513015C>G	ENST00000266070.4	-	16	4618	c.4293G>C	c.(4291-4293)gaG>gaC	p.E1431D	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1431D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1431					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTAAGATGGTCTCATCCTCGG	0.612													68	127					0	0	0	0	G	61513015	C	G	61513015	3	3	486	1	0	0	0	0	1	0	0	0	4559	912	32	2	2433	2	DIDO1	20	61513015	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	28170374	61513015	1512505	385	93875											
GABPA	2551	broad.mit.edu	37	chr21	27136926	27136926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaatggccaaatccaaCtatggcagtttttgctagaa	15	10	8	8	0	0	1	0	0	0	1	1	2	1	1	2	2	3	3	2	2	7	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:27136926C>T	ENST00000354828.3	+	9	1491	c.964C>T	c.(964-966)Cta>Tta	p.L322L	GABPA_ENST00000400075.3_Silent_p.L322L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	322					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CCAAATCCAACTATGGCAGTT	0.413													39	98					0	0	0	0	T	27136926	C	T	27136926	2	4	486	1	0	0	0	0	0	0	0	1	6205	564	20	4		4	GABPA	21	27136926	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		27136926	20992969	386	93876											
ADAMTS1	9510	broad.mit.edu	37	chr21	28216919	28216919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagaagcagtgcgccaggtCggtttccggaagcggcgtct	7	8	16	10	5	1	1	0	0	1	1	3	2	2	2	2	4	3	3	2	4	3	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:28216919C>T	ENST00000284984.2	-	1	809	c.355G>A	c.(355-357)Gac>Aac	p.D119N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	119					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCGCCAGGTCGGTTTCCGGA	0.682											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	17					0	0	0	0	T	28216919	C	T	28216919	3	4	486	1	0	0	0	0	1	0	0	0	255	884	31	1	2584	1	ADAMTS1	21	28216919	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1079993	28216919	19912976	387	93877											
GRIK1	2897	broad.mit.edu	37	chr21	30927505	30927505	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcccagggcactggcttcTttgttgtcttcctcggggca	4	13	11	13	1	2	0	0	0	2	0	5	0	4	0	2	4	0	4	2	4	0	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:30927505T>C	ENST00000399914.1	-	15	2951	c.2430A>G	c.(2428-2430)aaA>aaG	p.K810K	GRIK1_ENST00000327783.4_Silent_p.K825K|GRIK1_ENST00000309434.7_Silent_p.K827K|GRIK1_ENST00000399909.1_Silent_p.K810K|GRIK1_ENST00000535441.1_Silent_p.K827K|GRIK1_ENST00000399913.1_Silent_p.K825K|GRIK1_ENST00000389125.3_Silent_p.K810K|GRIK1_ENST00000399907.1_Silent_p.K825K|GRIK1_ENST00000389124.2_Silent_p.K825K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	825					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CACTGGCTTCTTTGTTGTCTT	0.453													36	117					0	0	0	0	C	30927505	T	C	30927505	2	2	486	1	0	0	0	0	0	0	0	1	6823	1606	56	5		5	GRIK1	21	30927505	Silent	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	2710586	30927505	17202390	388	93878											
TTC3	7267	broad.mit.edu	37	chr21	38520908	38520908	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcacatgaattgctggaaGaagttaaaaactacaacctt	16	12	6	7	0	1	2	1	1	0	1	1	3	1	3	1	1	4	2	1	1	8	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:38520908G>A	ENST00000399017.2	+	23	4826	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	TTC3_ENST00000354749.2_Silent_p.K693K|TTC3_ENST00000540756.1_Silent_p.K383K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.K693K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	693					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATTGCTGGAAGAAGTTAAAAA	0.299													30	82					0	0	0	0	A	38520908	G	A	38520908	2	1	486	1	0	0	0	0	0	0	0	1	16793	933	33	2		2	TTC3	21	38520908	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	7593403	38520908	9608987	389	93879											
CSTB	1476	broad.mit.edu	37	chr21	45194163	45194163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcttgttttcatgagggaGagattggaacactcgcaggt	9	11	15	6	1	1	2	1	1	0	1	2	5	1	4	0	4	1	3	0	4	1	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45194163G>C	ENST00000291568.5	-	3	392	c.217C>G	c.(217-219)Ctc>Gtc	p.L73V		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	73						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCATGAGGGAGAGATTGGAAC	0.527													32	79					0	0	0	0	C	45194163	G	C	45194163	3	2	486	1	0	0	0	0	1	0	0	0	4014	942	33	2	83	2	CSTB	21	45194163	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	6673255	45194163	2935732	390	93880											
C21orf33	8209	broad.mit.edu	37	chr21	45553591	45553591	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccgcaatggcggctgtGagggtcctggtggcctcgag	5	8	16	12	3	1	1	1	1	0	0	3	2	2	1	3	5	0	2	3	5	1	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45553591G>A	ENST00000291577.6	+	1	105	c.12G>A	c.(10-12)gtG>gtA	p.V4V	C21orf33_ENST00000427803.2_Silent_p.V4V|C21orf33_ENST00000348499.5_Silent_p.V4V|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	4						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		TGGCGGCTGTGAGGGTCCTGG	0.692													3	8					0	0	0	0	A	45553591	G	A	45553591	2	1	486	1	0	0	0	0	0	0	0	1	2145	1277	45	2		2	C21orf33	21	45553591	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	359428	45553591	2576304	391	93881											
C21orf33	8209	broad.mit.edu	37	chr21	45553636	45553636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggcatctgcattcacGtccctgtcccccggcggtcg	3	9	12	17	5	2	0	1	0	1	0	5	0	4	0	3	3	2	3	3	3	0	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45553636G>A	ENST00000291577.6	+	1	150	c.57G>A	c.(55-57)acG>acA	p.T19T	C21orf33_ENST00000427803.2_Silent_p.T19T|C21orf33_ENST00000348499.5_Silent_p.T19T|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	19						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CTGCATTCACGTCCCTGTCCC	0.721													3	11					0	0	0	0	A	45553636	G	A	45553636	2	1	486	1	0	0	0	0	0	0	0	1	2145	1132	40	1		1	C21orf33	21	45553636	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	45	45553636	2576259	392	93882											
COL18A1	80781	broad.mit.edu	37	chr21	46888526	46888526	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccggctccccgccttcgtCggccagtggacacacttagc	5	9	10	17	4	0	0	0	0	0	0	4	1	2	1	5	3	1	1	5	3	1	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:46888526C>T	ENST00000359759.4	+	2	1743	c.1722C>T	c.(1720-1722)gtC>gtT	p.V574V	COL18A1_ENST00000400337.2_Silent_p.V159V|COL18A1_ENST00000355480.5_Silent_p.V339V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	574	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGCCTTCGTCGGCCAGTGGA	0.637													39	80					0	0	0	0	T	46888526	C	T	46888526	2	4	486	1	0	0	0	0	0	0	0	1	3705	871	31	1		1	COL18A1	21	46888526	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1334890	46888526	1241369	393	93883											
PCNT	5116	broad.mit.edu	37	chr21	47769698	47769698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttagaagacttggagttCaagttcaaagagagcgagaa	15	10	12	4	1	2	4	2	0	0	4	2	7	2	5	0	1	1	3	0	1	5	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:47769698C>G	ENST00000359568.5	+	8	1415	c.1308C>G	c.(1306-1308)ttC>ttG	p.F436L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	436	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTTGGAGTTCAAGTTCAAAG	0.453													32	85					0	0	0	0	G	47769698	C	G	47769698	3	3	486	1	0	0	0	0	1	0	0	0	11661	825	29	2	1338	2	PCNT	21	47769698	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	881172	47769698	360197	394	93884											
AP1B1	162	broad.mit.edu	37	chr22	29745300	29745300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactcgcccacaatccagatCatggcagcccgggcctcagg	9	6	10	16	2	2	1	2	0	0	1	4	1	3	1	4	3	2	1	4	3	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:29745300C>T	ENST00000357586.2	-	11	1530	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	AP1B1_ENST00000402502.1_Missense_Mutation_p.M448I|AP1B1_ENST00000356015.2_Missense_Mutation_p.M448I|AP1B1_ENST00000432560.2_Missense_Mutation_p.M448I|AP1B1_ENST00000317368.7_Missense_Mutation_p.M448I|AP1B1_ENST00000405198.1_Missense_Mutation_p.M448I|AP1B1_ENST00000415447.1_Missense_Mutation_p.M448I	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	448					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAATCCAGATCATGGCAGCCC	0.587													37	79					0	0	0	0	T	29745300	C	T	29745300	3	4	486	1	0	0	0	0	1	0	0	0	732	826	29	2	1557	2	AP1B1	22	29745300	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08		29745300	21559266	395	93885											
SMTN	6525	broad.mit.edu	37	chr22	31487662	31487662	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctttctccccactcagaActgacactggggctgcgggc	7	8	10	16	1	2	2	1	1	1	1	3	2	2	2	3	3	2	1	3	3	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:31487662A>C	ENST00000333137.7	+	11	1679	c.1459_splice	c.e11-1	p.E487_splice	SMTN_ENST00000358743.1_Splice_Site_p.E487_splice|SMTN_ENST00000347557.2_Splice_Site_p.E487_splice	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	487					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCACTCAGAACTGACACTGG	0.632													17	40					0	0	0	0	C	31487662	A	C	31487662	5	2	486	1	0	0	0	0	0	0	1	0	14902	57	2	5	1499	5	SMTN	22	31487662	Splice_Site	SNP	A	TCGA-T2-A6X2-01A-12D-A34J-08	1742362	31487662	19816904	396	93886											
C22orf42	150297	broad.mit.edu	37	chr22	32545761	32545761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggtaatcttcatatctctCctttgcctgcaataggagaa	11	13	8	9	0	3	1	1	0	2	1	5	3	4	1	2	2	2	2	2	2	5	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:32545761C>G	ENST00000382097.3	-	8	733	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	221										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCATATCTCTCCTTTGCCTGC	0.343													17	26					0	0	0	0	G	32545761	C	G	32545761	3	3	486	1	0	0	0	0	1	0	0	0	2169	864	30	2	102	2	C22orf42	22	32545761	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1058099	32545761	18758805	397	93887											
FBXO7	25793	broad.mit.edu	37	chr22	32889106	32889106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttagcactgaacctaccaGatgtatttgggttggtcgtc	8	15	10	8	1	0	2	0	1	0	1	2	2	0	2	2	2	3	3	2	2	4	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:32889106G>A	ENST00000266087.7	+	7	1309	c.982G>A	c.(982-984)Gat>Aat	p.D328N	FBXO7_ENST00000397426.1_Missense_Mutation_p.D214N|FBXO7_ENST00000382058.3_Missense_Mutation_p.D249N	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	328				D -> N (in Ref. 7; AAF04471).	cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAACCTACCAGATGTATTTGG	0.433													77	207					0	0	0	0	A	32889106	G	A	32889106	3	1	486	1	0	0	0	0	1	0	0	0	5805	942	33	2	1049	2	FBXO7	22	32889106	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	343345	32889106	18415460	398	93888											
MB	4151	broad.mit.edu	37	chr22	36007002	36007002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcttaatctctgcctcatGatgccccttcttcttaagga	7	14	8	12	0	4	1	1	1	3	0	5	2	4	2	3	2	2	1	3	2	2	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:36007002G>A	ENST00000397326.2	-	2	445	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	MB_ENST00000359787.1_Missense_Mutation_p.H83Y|MB_ENST00000401702.1_Missense_Mutation_p.H28Y|MB_ENST00000406324.1_Missense_Mutation_p.H83Y|MB_ENST00000397328.1_Missense_Mutation_p.H83Y	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	83							heme binding|oxygen transporter activity			lung(1)	1						TCTGCCTCATGATGCCCCTTC	0.582													36	47					0	0	0	0	A	36007002	G	A	36007002	3	1	486	1	0	0	0	0	1	0	0	0	9410	1290	45	2	225	2	MB	22	36007002	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3117896	36007002	15297564	399	93889											
MYH9	4627	broad.mit.edu	37	chr22	36681376	36681376	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggtgttgatctggtcgatCtgcagaagaagggccagtga	9	10	15	7	2	2	4	0	2	2	2	4	5	2	4	1	3	1	2	1	3	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:36681376C>T	ENST00000216181.5	-	38	5505		c.e38-1		MYH9_ENST00000475726.1_Splice_Site	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGGTCGATCTGCAGAAGAA	0.617			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				49	86					0	0	0	0	T	36681376	C	T	36681376	5	4	486	1	0	0	0	0	0	0	1	0	10112	927	32	2	624	2	MYH9	22	36681376	Splice_Site	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	674374	36681376	14623190	400	93890											
MLC1	23209	broad.mit.edu	37	chr22	50502550	50502550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accttgaagcgcacgcactgGatggcggtgcccgtgttgag	7	8	15	11	4	0	2	0	2	0	0	0	3	0	3	2	3	2	3	2	3	1	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:50502550G>A	ENST00000311597.5	-	11	1578	c.972C>T	c.(970-972)atC>atT	p.I324I	MLC1_ENST00000538737.1_Silent_p.I290I|MLC1_ENST00000450140.2_Silent_p.I272I|MLC1_ENST00000431262.2_Silent_p.I294I|MLC1_ENST00000395876.2_Silent_p.I324I|MLC1_ENST00000535444.1_Silent_p.I245I|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	324						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCACGCACTGGATGGCGGTGC	0.667													15	35					0	0	0	0	A	50502550	G	A	50502550	2	1	486	1	0	0	0	0	0	0	0	1	9681	1164	41	2		2	MLC1	22	50502550	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	13821174	50502550	802016	401	93891											
TLR8	51311	broad.mit.edu	37	chrX	12939092	12939092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaagaatctgacacgtctgGatttatcccttaataggctg	11	13	8	9	1	3	2	1	1	2	1	4	3	4	3	1	2	0	1	1	2	5	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:12939092G>A	ENST00000218032.6	+	2	2020	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	TLR8_ENST00000311912.5_Missense_Mutation_p.D663N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	645					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACACGTCTGGATTTATCCCT	0.368													44	32					0	0	0	0	A	12939092	G	A	12939092	3	1	486	1	0	0	0	0	1	0	0	0	16051	1174	41	2	1939	2	TLR8	23	12939092	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08		12939092	142331468	402	93892											
USP9X	8239	broad.mit.edu	37	chrX	41056744	41056744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatattggttgtgaaaaagGaggtgctaatctcattaaag	14	13	10	4	0	2	1	2	1	1	0	3	2	2	2	0	3	1	2	0	3	6	5			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:41056744G>C	ENST00000324545.7	+	29	4994	c.4361G>C	c.(4360-4362)gGa>gCa	p.G1454A	USP9X_ENST00000378308.2_Missense_Mutation_p.G1454A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1454					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGTGAAAAAGGAGGTGCTAAT	0.333													11	13					0	0	0	0	C	41056744	G	C	41056744	3	2	486	1	0	0	0	0	1	0	0	0	17186	1174	41	2	4471	2	USP9X	23	41056744	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	28117652	41056744	114213816	403	93893											
CASK	8573	broad.mit.edu	37	chrX	41469159	41469159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaaagacagacttacatCtagtagtgtgtgaagatgct	16	11	9	5	0	1	4	0	1	1	3	1	4	1	4	0	0	2	2	0	0	7	4			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:41469159C>T	ENST00000318588.9	-	12	1198	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	CASK_ENST00000361962.4_Missense_Mutation_p.D385N|CASK_ENST00000421587.2_Missense_Mutation_p.D379N|CASK_ENST00000378158.1_Missense_Mutation_p.D385N|CASK_ENST00000378154.1_Missense_Mutation_p.D385N|CASK_ENST00000378163.1_Missense_Mutation_p.D385N|CASK_ENST00000378166.4_Missense_Mutation_p.D385N|CASK_ENST00000442742.2_Missense_Mutation_p.D385N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	385	L27 1.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AGACTTACATCTAGTAGTGTG	0.448													20	20					0	0	0	0	T	41469159	C	T	41469159	3	4	486	1	0	0	0	0	1	0	0	0	2690	913	32	2	1691	2	CASK	23	41469159	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	412415	41469159	113801401	404	93894											
KDM6A	7403	broad.mit.edu	37	chrX	44928826	44928826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttttctttctttttagggGcttcacaaaggtcagagttc	8	18	8	7	0	4	1	2	0	2	1	5	1	4	1	0	3	0	2	0	3	2	8			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:44928826G>A	ENST00000377967.4	+	17	1967	c.1926G>A	c.(1924-1926)ggG>ggA	p.G642G	KDM6A_ENST00000543216.1_Silent_p.G563G|KDM6A_ENST00000536777.1_Silent_p.G597G|KDM6A_ENST00000382899.4_Silent_p.G649G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	642					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTTTTTAGGGGCTTCACAAAG	0.383			"D, N, F, S"		"renal, oesophageal SCC, MM"								6	16					0	0	0	0	A	44928826	G	A	44928826	2	1	486	1	0	0	0	0	0	0	0	1	8189	1190	42	4		4	KDM6A	23	44928826	Silent	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	3459667	44928826	110341734	405	93895											
UBA1	7317	broad.mit.edu	37	chrX	47058240	47058240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaaacgtcgcgtgtcCgggcctgatccaaagccggg	9	6	13	13	5	0	2	0	1	0	1	4	2	3	2	5	2	2	0	5	2	3	0	rs141450062		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:47058240C>T	ENST00000335972.6	+	2	222	c.39C>T	c.(37-39)tcC>tcT	p.S13S	UBA1_ENST00000377351.4_Silent_p.S13S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	13					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCGCGTGTCCGGGCCTGATC	0.572													18	18					0	0	0	0	T	47058240	C	T	47058240	2	4	486	1	0	0	0	0	0	0	0	1	16923	639	23	1		1	UBA1	23	47058240	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	2129414	47058240	108212320	406	93896											
NUDT10	170685	broad.mit.edu	37	chrX	51075949	51075949	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccggtacccggaccgCtggatcgtgccgggcggggg	5	4	19	13	6	0	0	0	0	0	0	1	2	0	2	4	6	4	3	4	6	1	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:51075949C>G	ENST00000376006.3	+	2	352	c.132C>G	c.(130-132)cgC>cgG	p.R44R	NUDT10_ENST00000356450.2_Silent_p.R44R	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	44	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					ACCCGGACCGCTGGATCGTGC	0.697													14	9					0	0	0	0	G	51075949	C	G	51075949	2	3	486	1	0	0	0	0	0	0	0	1	10797	784	28	4		4	NUDT10	23	51075949	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	4017709	51075949	104194611	407	93897											
HUWE1	10075	broad.mit.edu	37	chrX	53612084	53612084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctattgttgcttgcactgTaactacaccaacgcccagag	10	11	8	12	1	0	1	0	0	0	1	0	1	0	1	2	0	6	5	2	0	4	6			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:53612084T>C	ENST00000342160.3	-	39	5346	c.4889A>G	c.(4888-4890)tAc>tGc	p.Y1630C	HUWE1_ENST00000262854.6_Missense_Mutation_p.Y1630C|HUWE1_ENST00000218328.8_Missense_Mutation_p.Y1630C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1630	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTTGCACTGTAACTACACCA	0.443													64	37					0	0	0	0	C	53612084	T	C	53612084	3	2	486	1	0	0	0	0	1	0	0	0	7514	1638	57	5	8415	5	HUWE1	23	53612084	Missense_Mutation	SNP	T	TCGA-T2-A6X2-01A-12D-A34J-08	2536135	53612084	101658476	408	93898											
FAM120C	54954	broad.mit.edu	37	chrX	54099678	54099678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggagcgagaccgacCttgatgaagctccagggatt	10	8	13	10	2	0	3	0	2	0	1	1	7	1	5	4	2	3	1	4	2	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:54099678C>A	ENST00000375180.2	-	16	3135	c.3079G>T	c.(3079-3081)Ggt>Tgt	p.G1027C	FAM120C_ENST00000328235.4_Missense_Mutation_p.K889N	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1027										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CGAGACCGACCTTGATGAAGC	0.483													19	22					5.3912e-06	5.501e-06	1	0	A	54099678	C	A	54099678	3	1	486	1	0	0	0	0	1	0	0	0	5459	681	24	4	215	4	FAM120C	23	54099678	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	487594	54099678	101170882	409	93899											
STARD8	9754	broad.mit.edu	37	chrX	67938003	67938003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtacccagacctggggcctgGagatgaggaagaggaggagg	11	4	19	7	0	0	4	0	1	0	3	0	8	0	7	3	7	1	1	3	7	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:67938003G>A	ENST00000252336.6	+	5	1379	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	STARD8_ENST00000374597.3_Missense_Mutation_p.G336E|STARD8_ENST00000374599.3_Missense_Mutation_p.G416E	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	336					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGGGGCCTGGAGATGAGGAA	0.577													13	13					0	0	0	0	A	67938003	G	A	67938003	3	1	486	1	0	0	0	0	1	0	0	0	15353	1174	41	2	1269	2	STARD8	23	67938003	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	13838325	67938003	87332557	410	93900											
SNX12	29934	broad.mit.edu	37	chrX	70281738	70281738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcctttcttcgatgaaaGactcctcaaagatcccttca	10	12	5	14	1	3	3	2	1	1	2	7	4	6	3	4	0	0	0	4	0	2	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:70281738G>C	ENST00000374274.3	-	3	457	c.341C>G	c.(340-342)tCt>tGt	p.S114C	SNX12_ENST00000276105.3_Missense_Mutation_p.S110C|SNX12_ENST00000465030.1_Intron	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	114	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					TTCGATGAAAGACTCCTCAAA	0.498													12	12					0	0	0	0	C	70281738	G	C	70281738	3	2	486	1	0	0	0	0	1	0	0	0	14971	942	33	2	155	2	SNX12	23	70281738	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2343735	70281738	84988822	411	93901											
DRP2	1821	broad.mit.edu	37	chrX	100503251	100503251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtgtggacatgagcCtcaattggctcctcaatgtt	8	13	9	11	0	3	1	2	1	1	0	4	2	4	2	2	2	1	2	2	2	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:100503251C>A	ENST00000395209.3	+	13	1953	c.1426C>A	c.(1426-1428)Ctc>Atc	p.L476I	DRP2_ENST00000538510.1_Missense_Mutation_p.L476I|DRP2_ENST00000541709.1_Missense_Mutation_p.L398I|DRP2_ENST00000402866.1_Missense_Mutation_p.L476I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	476					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGACATGAGCCTCAATTGGCT	0.493													65	43					6.20203e-27	6.59707e-27	1	0	A	100503251	C	A	100503251	3	1	486	1	0	0	0	0	1	0	0	0	4800	681	24	4	1468	4	DRP2	23	100503251	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	30221513	100503251	54767309	412	93902											
GPRASP2	114928	broad.mit.edu	37	chrX	101970216	101970216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgggactgaagcagtgtCacaggcagaaggagtgtccc	11	8	14	8	0	1	2	1	1	0	1	2	4	2	4	1	3	1	2	1	3	2	1			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:101970216C>T	ENST00000543253.1	+	5	1338	c.419C>T	c.(418-420)tCa>tTa	p.S140L	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S140L|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S140L	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGCAGTGTCACAGGCAGAA	0.542													86	55					0	0	0	0	T	101970216	C	T	101970216	3	4	486	1	0	0	0	0	1	0	0	0	6773	838	29	2	421	2	GPRASP2	23	101970216	Missense_Mutation	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	1466965	101970216	53300344	413	93903											
LUZP4	51213	broad.mit.edu	37	chrX	114540824	114540824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagaatcaaggccagtcaGaggggaaccagcatcaatca	17	4	11	9	0	4	3	4	0	0	3	4	4	4	4	2	3	2	1	2	3	5	0			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:114540824G>C	ENST00000371920.3	+	4	404	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	LUZP4_ENST00000451986.2_Missense_Mutation_p.E51Q	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	133						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGGCCAGTCAGAGGGGAACCA	0.433													30	17					0	0	0	0	C	114540824	G	C	114540824	3	2	486	1	0	0	0	0	1	0	0	0	9152	943	33	2	411	2	LUZP4	23	114540824	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	12570608	114540824	40729736	414	93904											
F9	2158	broad.mit.edu	37	chrX	138623273	138623273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatccatgtttaaatggcGgcagttgcaaggatgacatt	12	11	10	8	1	0	1	0	1	0	0	1	2	1	2	2	3	1	4	2	3	4	4	rs137852233	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:138623273G>A	ENST00000218099.2	+	4	323	c.316G>A	c.(316-318)Ggc>Agc	p.G106S	F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	106	EGF-like 1; calcium-binding (Potential).		G -> D (in HEMB).|G -> S (in HEMB; mild; Durham).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TTTAAATGGCGGCAGTTGCAA	0.398													24	19					0	0	0	0	A	138623273	G	A	138623273	3	1	486	1	0	0	0	0	1	0	0	0	5392	1116	39	1	330	1	F9	23	138623273	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	24082449	138623273	16647287	415	93905											
CXorf40A	91966	broad.mit.edu	37	chrX	148627224	148627224	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccttatgctggctttgtCttaaatggaatcaagactgt	10	14	9	8	0	2	1	1	0	1	1	2	2	2	2	1	2	2	2	1	2	5	3			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:148627224C>G	ENST00000441248.1	+	3	1635	c.48C>G	c.(46-48)gtC>gtG	p.V16V	CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000434353.2_Silent_p.V16V|CXorf40A_ENST00000450602.2_Silent_p.V16V|CXorf40A_ENST00000359293.5_Silent_p.V16V|CXorf40A_ENST00000423540.2_Silent_p.V16V|CXorf40A_ENST00000423421.1_Silent_p.V16V|CXorf40A_ENST00000514208.1_Silent_p.V16V|CXorf40A_ENST00000422892.2_Silent_p.V16V|CXorf40A_ENST00000393985.3_Silent_p.V16V			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	16							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGCTTTGTCTTAAATGGAA	0.597													20	22					0	0	0	0	G	148627224	C	G	148627224	2	3	486	1	0	0	0	0	0	0	0	1	4140	900	32	2		2	CXorf40A	23	148627224	Silent	SNP	C	TCGA-T2-A6X2-01A-12D-A34J-08	10003951	148627224	6643336	416	93906											
PASD1	139135	broad.mit.edu	37	chrX	150844505	150844505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagtcgagggacctcctGatccacaggctttccaaggc	9	8	12	12	1	0	1	0	1	0	0	4	4	3	3	4	4	0	1	4	4	2	2			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:150844505G>T	ENST00000370357.4	+	16	2457	c.2212G>T	c.(2212-2214)Gat>Tat	p.D738Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	738						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGGACCTCCTGATCCACAGGC	0.517													83	59					2.25582e-47	2.42525e-47	1	0	T	150844505	G	T	150844505	3	4	486	1	0	0	0	0	1	0	0	0	11542	1290	45	2	2270	2	PASD1	23	150844505	Missense_Mutation	SNP	G	TCGA-T2-A6X2-01A-12D-A34J-08	2217281	150844505	4426055	417	93907											
KCNAB2	8514	broad.mit.edu	37	chr1	6156814	6156814	+	Frame_Shift_Del	DEL	T	T	-																															caccctgccccagctggccaTaggtaacggtggggtcgcca																										TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:6156814delT	ENST00000164247.1	+	14	1487	c.923delT	c.(922-924)aafs	p.I308fs	KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.I294fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.I356fs|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.I241fs|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.I294fs	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	308						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGGCCATAGGTAACGGT	0.682													2	4	---	---	---	---					-	6156814	T	-	6156814	7	5	487	1	0	1	0	1	0	0	0	0	8063	1406	49	0	973	0	KCNAB2	1	6156814	Frame_Shift_Del	DEL	T	TCGA-TN-A7HI-01A-11D-A34J-08		6156814	243093807	1	93908											
SDC3	9672	broad.mit.edu	37	chr1	31346159	31346159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatcctttttcttcatacGatagatgagcagtgtgacca	10	14	7	10	1	3	3	2	2	1	1	4	4	4	3	2	0	2	1	2	0	2	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:31346159G>A	ENST00000336798.7	-	3	2546	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	SDC3_ENST00000339394.6_Missense_Mutation_p.R410C			O75056	SDC3_HUMAN	syndecan 3	410						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCATACGATAGATGAGC	0.562													31	44					0	0	0	0	A	31346159	G	A	31346159	3	1	487	1	0	0	0	0	1	0	0	0	14040	1058	37	1	104	1	SDC3	1	31346159	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	25189345	31346159	217904462	2	93909											
SLC1A7	6512	broad.mit.edu	37	chr1	53600102	53600102	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggaagtaactaatttcCtgaaaacacagtaagaactg	18	9	7	7	0	0	2	0	1	0	1	1	3	1	3	1	1	4	2	1	1	8	4			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:53600102C>T	ENST00000371494.4	-	2	263		c.e2-1		SLC1A7_ENST00000371491.4_Splice_Site	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7							integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AACTAATTTCCTGAAAACACA	0.502													8	23					0	0	0	0	T	53600102	C	T	53600102	5	4	487	1	0	0	0	0	0	0	1	0	14525	695	24	4	1587	4	SLC1A7	1	53600102	Splice_Site	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	22253943	53600102	195650519	3	93910											
LRRC7	57554	broad.mit.edu	37	chr1	70505431	70505431	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtaaaatgcctgcagactgGagacaacagctgcttagaca	14	7	11	9	0	0	3	0	0	0	3	0	4	0	3	1	2	5	4	1	2	4	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:70505431G>A	ENST00000310961.5	+	22	4243	c.3825G>A	c.(3823-3825)tgG>tgA	p.W1275*	LRRC7_ENST00000415775.2_Nonsense_Mutation_p.W554*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W1270*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1270						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGCAGACTGGAGACAACAGC	0.448													46	97					0	0	0	0	A	70505431	G	A	70505431	4	1	487	1	0	0	0	0	0	1	0	0	9084	1183	41	2	3884	2	LRRC7	1	70505431	Nonsense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	16905329	70505431	178745190	4	93911											
IQGAP3	128239	broad.mit.edu	37	chr1	156499965	156499965	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccccagggcttcaagtcGgcgtaggttccgcaggacgc	8	6	13	14	4	1	0	1	0	0	0	3	1	2	1	3	4	1	4	3	4	3	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:156499965G>A	ENST00000361170.2	-	34	4346	c.4336C>T	c.(4336-4338)Cga>Tga	p.R1446*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1446					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTTCAAGTCGGCGTAGGTTC	0.652													7	5					0	0	0	0	A	156499965	G	A	156499965	4	1	487	1	0	0	0	0	0	1	0	0	7869	1124	39	1	579	1	IQGAP3	1	156499965	Nonsense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	85994534	156499965	92750656	5	93912											
GPR37L1	9283	broad.mit.edu	37	chr1	202097353	202097353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggtctacgccttctgcaCcctcccagagaacgtctgca	7	9	9	16	3	3	1	0	0	3	1	4	2	4	1	3	1	4	2	3	1	2	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:202097353C>T	ENST00000367282.4	+	2	1221	c.1115C>T	c.(1114-1116)aCc>aTc	p.T372I		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	372						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GCCTTCTGCACCCTCCCAGAG	0.632													27	59					0	0	0	0	T	202097353	C	T	202097353	3	4	487	1	0	0	0	0	1	0	0	0	6741	507	18	4	1121	4	GPR37L1	1	202097353	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	45597388	202097353	47153268	6	93913											
RASGRP3	25780	broad.mit.edu	37	chr2	33774800	33774800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctcaagccaaccttctgCgaacactgtgcgggatttgt	9	12	9	11	2	2	0	1	0	2	0	3	2	2	1	2	1	5	0	2	1	4	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr2:33774800C>T	ENST00000403687.3	+	14	2264	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	RASGRP3_ENST00000402538.3_Silent_p.C508C|RASGRP3_ENST00000407811.1_Silent_p.C507C	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	508					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CAACCTTCTGCGAACACTGTG	0.388													10	28					0	0	0	0	T	33774800	C	T	33774800	2	4	487	1	0	0	0	0	0	0	0	1	13158	776	27	1		1	RASGRP3	2	33774800	Silent	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		33774800	209424573	7	93914											
PLCL1	5334	broad.mit.edu	37	chr2	198950713	198950713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttgcagcctggatatcgGcatgttcccctgcgttcttt	4	16	10	11	2	1	0	0	0	1	0	3	1	2	1	3	2	3	5	3	2	1	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr2:198950713G>A	ENST00000428675.1	+	2	2870	c.2472G>A	c.(2470-2472)cgG>cgA	p.R824R	PLCL1_ENST00000437704.2_Silent_p.R726R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	824					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGGATATCGGCATGTTCCCC	0.448													4	86					0	0	0	0	A	198950713	G	A	198950713	2	1	487	1	0	0	0	0	0	0	0	1	12111	1190	42	4		4	PLCL1	2	198950713	Silent	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	165175913	198950713	44248660	8	93915											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37034286	37034286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgcacgagcagctctctCttcaggagtgaaggaggcca	9	7	13	12	1	3	1	1	1	2	0	4	4	3	3	2	3	3	3	2	3	1	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr3:37034286C>T	ENST00000322716.5	-	1	509	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	95						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GCAGCTCTCTCTTCAGGAGTG	0.652													40	74					0	0	0	0	T	37034286	C	T	37034286	3	4	487	1	0	0	0	0	1	0	0	0	5222	922	32	2	1544	2	EPM2AIP1	3	37034286	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		37034286	160988144	9	93916											
CD47	961	broad.mit.edu	37	chr3	107799072	107799072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttaaatttccactttaCgtatacttcagtagtgtttt	9	20	4	8	1	1	0	1	0	0	0	3	0	3	0	2	0	2	3	2	0	6	11			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr3:107799072C>T	ENST00000355354.7	-	2	282	c.166G>A	c.(166-168)Gta>Ata	p.V56I	CD47_ENST00000361309.5_Missense_Mutation_p.V56I	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	56	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TTCCACTTTACGTATACTTCA	0.353													35	123					0	0	0	0	T	107799072	C	T	107799072	3	4	487	1	0	0	0	0	1	0	0	0	3048	536	19	1	849	1	CD47	3	107799072	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	70764786	107799072	90223358	10	93917											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	79					0	0	0	0	A	178936082	G	A	178936082	3	1	487	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	71137010	178936082	19086348	11	93918											
MUC4	4585	broad.mit.edu	37	chr3	195512606	195512606	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaggaagaggggtggtgtGacctgaggatgctgaggaag	11	6	20	4	0	0	4	0	3	0	1	0	8	0	7	1	6	1	1	1	6	2	0			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr3:195512606G>C	ENST00000463781.3	-	2	6304	c.5845C>G	c.(5845-5847)Cac>Gac	p.H1949D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H1949D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	709					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTGACCTGAGGAT	0.597													3	5					0	0	0	0	C	195512606	G	C	195512606	3	2	487	1	0	0	0	0	1	0	0	0	10048	1290	45	2		2	MUC4	3	195512606	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	16576524	195512606	2509824	12	93919											
ANKRD50	57182	broad.mit.edu	37	chr4	125592402	125592402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctatcaaagcagttctaCcttcattatcagctttgttc	9	16	5	11	0	4	0	3	0	1	0	5	0	4	0	1	0	4	5	1	0	4	7			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr4:125592402C>T	ENST00000504087.1	-	4	3067	c.2030G>A	c.(2029-2031)gGt>gAt	p.G677D	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G498D	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	677										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGCAGTTCTACCTTCATTATC	0.463													51	81					0	0	0	0	T	125592402	C	T	125592402	3	4	487	1	0	0	0	0	1	0	0	0	676	507	18	4	2263	4	ANKRD50	4	125592402	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		125592402	65561874	13	93920											
NAA15	80155	broad.mit.edu	37	chr4	140291481	140291481	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaagcagcagagaaatCagaaaaagaagaaggatgat	24	3	11	3	0	1	6	1	1	0	5	1	8	1	7	0	1	2	2	0	1	8	0			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr4:140291481C>T	ENST00000296543.5	+	15	2193	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.Q624*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	624					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						gcagagaaatcagaaaaagaa	0.358													21	32					0	0	0	0	T	140291481	C	T	140291481	4	4	487	1	0	0	0	0	0	1	0	0	10188	827	29	2	1928	2	NAA15	4	140291481	Nonsense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	14699079	140291481	50862795	14	93921											
SETD7	80854	broad.mit.edu	37	chr4	140441448	140441448	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctcttggtgtgtaattcGaactccattataaaaagaca	14	12	6	9	1	1	1	0	0	1	1	3	2	2	1	2	1	1	1	2	1	6	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr4:140441448G>A	ENST00000274031.3	-	6	1381	c.745C>T	c.(745-747)Cga>Tga	p.R249*	SETD7_ENST00000506866.2_Nonsense_Mutation_p.R249*	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	249	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TGTGTAATTCGAACTCCATTA	0.398													4	92					0	0	0	0	A	140441448	G	A	140441448	4	1	487	1	0	0	0	0	0	1	0	0	14223	1066	37	1	367	1	SETD7	4	140441448	Nonsense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	149967	140441448	50712828	15	93922											
ADCY2	108	broad.mit.edu	37	chr5	7706894	7706894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagttgatatcaacatgCgcgtgggcgtgcattctggg	7	11	15	8	3	2	1	1	1	1	0	2	2	2	2	0	3	3	2	0	3	2	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:7706894C>T	ENST00000338316.4	+	8	1236	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	ADCY2_ENST00000537121.1_Missense_Mutation_p.R203C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	383					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			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						TATCAACATGCGCGTGGGCGT	0.473													57	224					0	0	0	0	T	7706894	C	T	7706894	3	4	487	1	0	0	0	0	1	0	0	0	294	768	27	1	1177	1	ADCY2	5	7706894	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		7706894	173208366	16	93923											
SPEF2	79925	broad.mit.edu	37	chr5	35771703	35771710	+	Splice_Site	DEL	GCAACCAG	GCAACCAG	-																															aactgaaatattgctgttacGcaaccaggtggctgctgaaa																								rs138022749	by1000genomes	TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:35771703_35771710delGCAACCAG	ENST00000440995.2	+	27	3786		c.e27-1		CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGCTGTTACGCAACCAGGTGGCTGCTG	0.375													9	75	---	---	---	---					-	35771710	GCAACCAG	-	35771703	8	5	487	1	0	1	0	1	0	0	1	0	15125	1102	38	0		0	SPEF2	5	35771703	Splice_Site	DEL	GCAACCAG	TCGA-TN-A7HI-01A-11D-A34J-08	28064809	35771703	145143557	17	93924											
IL9	3578	broad.mit.edu	37	chr5	135229825	135229825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtctctcactgaagcatgGtctggtgcagttgtcctggt	6	13	12	10	0	3	1	1	1	2	0	5	1	4	1	1	3	2	3	1	3	1	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:135229825G>C	ENST00000274520.1	-	4	209	c.199C>G	c.(199-201)Cca>Gca	p.P67A		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	67					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGAAGCATGGTCTGGTGCAG	0.373													4	59					0	0	0	0	C	135229825	G	C	135229825	3	2	487	1	0	0	0	0	1	0	0	0	7760	1261	44	4	243	4	IL9	5	135229825	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	99458122	135229825	45685435	18	93925											
GRM6	2916	broad.mit.edu	37	chr5	178413498	178413498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggagcggcggggctGcccagggggaggaccagctc	7	2	20	12	2	0	0	0	0	0	0	1	4	0	4	3	8	3	2	3	8	0	0			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:178413498G>T	ENST00000231188.5	-	8	1935	c.1757C>A	c.(1756-1758)gCa>gAa	p.A586E	GRM6_ENST00000517717.1_Missense_Mutation_p.A586E|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	586					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CGGCGGGGCTGCCCAGGGGGA	0.701													14	13					0.000151284	0.00015431	1	0	T	178413498	G	T	178413498	3	4	487	1	0	0	0	0	1	0	0	0	6851	1319	46	4	888	4	GRM6	5	178413498	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	43183673	178413498	2501762	19	93926											
BTN2A1	11120	broad.mit.edu	37	chr6	26458872	26458872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgggtgctcatggaatCagctgctgccctgcacttct	5	12	11	13	0	4	0	2	0	2	0	4	1	4	1	1	2	5	5	1	2	1	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr6:26458872C>T	ENST00000429381.1	+	2	220	c.8C>T	c.(7-9)tCa>tTa	p.S3L	BTN2A1_ENST00000312541.5_Missense_Mutation_p.S3L|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	3					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTCATGGAATCAGCTGCTGCC	0.622													4	74					0	0	0	0	T	26458872	C	T	26458872	3	4	487	1	0	0	0	0	1	0	0	0	1569	838	29	2	10	2	BTN2A1	6	26458872	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		26458872	144656195	20	93927											
MDN1	23195	broad.mit.edu	37	chr6	90455081	90455081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcatgccctcagtccacacGatatggccaaagttacactc	11	8	7	15	2	1	0	1	0	0	0	3	1	2	0	3	1	2	2	3	1	3	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr6:90455081G>A	ENST00000369393.3	-	29	4204	c.4089C>T	c.(4087-4089)atC>atT	p.I1363I	MDN1_ENST00000428876.1_Silent_p.I1363I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1363					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTCCACACGATATGGCCAA	0.433													35	69					0	0	0	0	A	90455081	G	A	90455081	2	1	487	1	0	0	0	0	0	0	0	1	9484	1048	37	1		1	MDN1	6	90455081	Silent	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	63996209	90455081	80659986	21	93928											
CYTH3	9265	broad.mit.edu	37	chr7	6204942	6204942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctccttctcctccgggctCggggctgagatccggtacac	4	10	11	16	3	1	1	0	1	1	1	7	2	5	1	5	4	1	3	5	4	1	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr7:6204942C>T	ENST00000350796.3	-	12	1225	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	CYTH3_ENST00000396741.2_Silent_p.P278P	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	364	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CCTCCGGGCTCGGGGCTGAGA	0.647													31	34					0	0	0	0	T	6204942	C	T	6204942	2	4	487	1	0	0	0	0	0	0	0	1	4237	871	31	1		1	CYTH3	7	6204942	Silent	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		6204942	152933721	22	93929											
TRPV5	56302	broad.mit.edu	37	chr7	142605775	142605775	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaaggatctcccagcctcGgtgactgctgctctgggacg	7	8	13	13	3	2	1	0	1	2	0	4	4	2	3	2	3	3	2	2	3	1	0			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr7:142605775G>A	ENST00000265310.1	-	15	2443	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	699					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCCAGCCTCGGTGACTGCTG	0.562													22	44					0	0	0	0	A	142605775	G	A	142605775	4	1	487	1	0	0	0	0	0	1	0	0	16694	1124	39	1	98	1	TRPV5	7	142605775	Nonsense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	136400833	142605775	16532888	23	93930											
PDLIM2	64236	broad.mit.edu	37	chr8	22449070	22449070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcccccaggtggcaCgccagccttcttgcccagct	4	8	10	19	1	1	0	0	0	1	0	1	0	1	0	6	2	5	2	6	2	0	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:22449070C>T	ENST00000265810.4	+	8	885	c.770C>T	c.(769-771)aCg>aTg	p.T257M	PDLIM2_ENST00000397760.4_Missense_Mutation_p.T257M|PDLIM2_ENST00000308354.7_Missense_Mutation_p.T507M|PDLIM2_ENST00000397761.2_Missense_Mutation_p.T257M|PDLIM2_ENST00000339162.7_Intron|PDLIM2_ENST00000409417.1_Missense_Mutation_p.T257M|PDLIM2_ENST00000409141.1_Intron|AC037459.4_ENST00000430850.2_Missense_Mutation_p.T51M|PDLIM2_ENST00000448520.1_3'UTR	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	257						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CCAGGTGGCACGCCAGCCTTC	0.632													9	62					0	0	0	0	T	22449070	C	T	22449070	3	4	487	1	0	0	0	0	1	0	0	0	11751	536	19	1	800	1	PDLIM2	8	22449070	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		22449070	123914952	24	93931											
ZNF395	55893	broad.mit.edu	37	chr8	28217203	28217203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggacaggggccctgcaGctctgccagccacacctcct	6	6	12	17	0	1	0	0	0	1	0	2	1	2	1	5	4	4	2	5	4	0	0			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:28217203G>T	ENST00000344423.5	-	3	510	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	ZNF395_ENST00000523202.1_Missense_Mutation_p.L127M|ZNF395_ENST00000523095.1_Missense_Mutation_p.L127M	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	127					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGCCCTGCAGCTCTGCCAGC	0.662													15	122					1.3612e-06	1.40245e-06	1	0	T	28217203	G	T	28217203	3	4	487	1	0	0	0	0	1	0	0	0	17976	962	34	4	1194	4	ZNF395	8	28217203	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	5768133	28217203	118146819	25	93932											
ADAM2	2515	broad.mit.edu	37	chr8	39626997	39626997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgaaaaaaggatctaagcGaggctgattgtgaagacact	15	10	11	5	1	1	4	0	3	1	1	1	6	1	5	0	2	1	1	0	2	5	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:39626997G>A	ENST00000265708.4	-	12	1229	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C|ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	376					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGATCTAAGCGAGGCTGATTG	0.433													19	135					0	0	0	0	A	39626997	G	A	39626997	3	1	487	1	0	0	0	0	1	0	0	0	241	1058	37	1	1117	1	ADAM2	8	39626997	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	11409794	39626997	106737025	26	93933											
RGS20	8601	broad.mit.edu	37	chr8	54859258	54859258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggaagatcagaggccCacaatagcttcccacgaact	15	5	8	13	1	1	2	1	0	0	2	2	4	2	3	3	2	3	1	3	2	5	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:54859258C>T	ENST00000297313.3	+	4	785	c.693C>T	c.(691-693)ccC>ccT	p.P231P	RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000276500.4_Silent_p.P84P|RGS20_ENST00000344277.6_Silent_p.P116P|RGS20_ENST00000517405.1_3'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	231					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			ATCAGAGGCCCACAATAGCTT	0.403													29	163					0	0	0	0	T	54859258	C	T	54859258	2	4	487	1	0	0	0	0	0	0	0	1	13386	581	21	4		4	RGS20	8	54859258	Silent	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	15232261	54859258	91504764	27	93934											
KCNB2	9312	broad.mit.edu	37	chr8	73480508	73480508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaaggaagaaactgtGggacttgctggagaaaccta	16	8	12	5	0	0	3	0	1	0	2	0	6	0	5	1	3	3	1	1	3	6	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:73480508G>T	ENST00000523207.1	+	2	1127	c.539G>T	c.(538-540)tGg>tTg	p.W180L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	180					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGAAACTGTGGGACTTGCTG	0.463													37	232					9.8876e-21	1.09623e-20	1	0	T	73480508	G	T	73480508	3	4	487	1	0	0	0	0	1	0	0	0	8066	1357	47	4	541	4	KCNB2	8	73480508	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	18621250	73480508	72883514	28	93935											
ZFHX4	79776	broad.mit.edu	37	chr8	77768233	77768233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtccatcagagatcacAttttctccaaacagcacatt	12	12	5	12	0	3	1	2	0	1	1	5	2	4	1	2	0	2	2	2	0	1	4			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:77768233A>T	ENST00000521891.2	+	10	9524	c.9076A>T	c.(9076-9078)Att>Ttt	p.I3026F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2981F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2981F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I3000F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2981						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGAGATCACATTTTCTCCAA	0.522										HNSCC(33;0.089)			10	111					0	0	0	0	T	77768233	A	T	77768233	3	4	487	1	0	0	0	0	1	0	0	0	17730	217	8	5	9110	5	ZFHX4	8	77768233	Missense_Mutation	SNP	A	TCGA-TN-A7HI-01A-11D-A34J-08	4287725	77768233	68595789	29	93936											
VLDLR	7436	broad.mit.edu	37	chr9	2643960	2643960	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcccctgaaagagtgtcGtaagtgtacttgttgttcaa	10	13	11	7	1	1	3	1	2	0	1	2	3	1	3	2	0	2	4	2	0	4	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr9:2643960G>A	ENST00000382100.2	+	7	1422		c.e7+1		VLDLR_ENST00000382099.2_Splice_Site	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AAAGAGTGTCGTAAGTGTACT	0.448													35	123					0	0	0	0	A	2643960	G	A	2643960	5	1	487	1	0	0	0	0	0	0	1	0	17270	1159	40	1	1093	1	VLDLR	9	2643960	Splice_Site	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08		2643960	138569471	30	93937											
ZNF658	26149	broad.mit.edu	37	chr9	40774444	40774444	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggttttgtcacaggaTgtcccatattcattaagatc	9	14	10	8	1	2	1	2	0	0	1	4	2	3	2	1	3	0	1	1	3	2	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr9:40774444T>C	ENST00000602553.1	-	5	1125	c.831A>G	c.(829-831)acA>acG	p.T277T	ZNF658_ENST00000377626.3_Silent_p.T277T|ZNF658_ENST00000441795.1_Silent_p.T275T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TGTCACAGGATGTCCCATATT	0.363													5	451					0	0	0	0	C	40774444	T	C	40774444	2	2	487	1	0	0	0	0	0	0	0	1	18164	1451	51	5		5	ZNF658	9	40774444	Silent	SNP	T	TCGA-TN-A7HI-01A-11D-A34J-08	38130484	40774444	100438987	31	93938											
WNK2	65268	broad.mit.edu	37	chr9	96021600	96021600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagatggcgcctactgacGtccctccttccccccatcac	7	8	6	20	2	1	2	1	1	0	1	4	2	4	2	6	1	1	0	6	1	1	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr9:96021600G>A	ENST00000297954.4	+	11	2770	c.2770G>A	c.(2770-2772)Gtc>Atc	p.V924I	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V536I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.V536I|WNK2_ENST00000395477.2_Missense_Mutation_p.V924I			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	924					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCTACTGACGTCCCTCCTTC	0.667													25	28					0	0	0	0	A	96021600	G	A	96021600	3	1	487	1	0	0	0	0	1	0	0	0	17474	1145	40	1	2812	1	WNK2	9	96021600	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	55247156	96021600	45191831	32	93939											
SFMBT2	57713	broad.mit.edu	37	chr10	7214537	7214537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttccgtcgcttcctccGcctggcgggtttggggtgtc	1	13	15	12	4	0	0	0	0	0	0	5	1	3	1	4	5	0	2	4	5	0	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:7214537G>A	ENST00000361972.4	-	18	2161	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R691W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	691					regulation of transcription, DNA-dependent	nucleus		p.R691W(2)		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						CGCTTCCTCCGCCTGGCGGGT	0.587													9	22					0	0	0	0	A	7214537	G	A	7214537	3	1	487	1	0	0	0	0	1	0	0	0	14245	1086	38	1	629	1	SFMBT2	10	7214537	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08		7214537	128320210	33	93940											
PCDH15	65217	broad.mit.edu	37	chr10	55617002	55617002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaaacaatgacttgcatatCcagctgattgaccacggaga	14	8	10	9	1	0	4	0	3	0	1	1	6	1	5	2	2	3	2	2	2	3	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:55617002C>G	ENST00000373965.2	-	29	4154	c.3760G>C	c.(3760-3762)Gat>Cat	p.D1254H	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1254H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1252H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1247H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1210H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1247H|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1247H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1176H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1247H|PCDH15_ENST00000409834.1_Missense_Mutation_p.D858H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1225H|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1247	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTGCATATCCAGCTGATTG	0.333										HNSCC(58;0.16)			35	85					0	0	0	0	G	55617002	C	G	55617002	3	3	487	1	0	0	0	0	1	0	0	0	11582	855	30	2	3771	2	PCDH15	10	55617002	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	48402465	55617002	79917745	34	93941											
DOCK1	1793	broad.mit.edu	37	chr10	129172386	129172386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaaacttttgtaaaactcGttgtgcgcttaatggaaagg	13	12	11	5	2	0	1	0	0	0	1	1	3	0	2	0	2	3	3	0	2	5	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:129172386G>A	ENST00000280333.6	+	35	3629	c.3520G>A	c.(3520-3522)Gtt>Att	p.V1174I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1174	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGTAAAACTCGTTGTGCGCTT	0.423													13	26					0	0	0	0	A	129172386	G	A	129172386	3	1	487	1	0	0	0	0	1	0	0	0	4720	1145	40	1	3658	1	DOCK1	10	129172386	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	73555384	129172386	6362361	35	93942											
OR52N4	390072	broad.mit.edu	37	chr11	5776794	5776794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacataatccccccttcttGccacatcattgtagccaata	12	11	3	15	0	2	0	1	0	1	0	3	0	3	0	5	0	2	1	5	0	4	6			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr11:5776794G>T	ENST00000317254.3	+	1	872	c.824G>T	c.(823-825)tGc>tTc	p.C275F	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCCCCTTCTTGCCACATCATT	0.458													31	93					2.70662e-09	2.84614e-09	1	0	T	5776794	G	T	5776794	3	4	487	1	0	0	0	0	1	0	0	0	11200	1319	46	4	826	4	OR52N4	11	5776794	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08		5776794	129229722	36	93943											
CAPN1	823	broad.mit.edu	37	chr11	64978326	64978326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatctggatggagttgtgAcctttgacttgtttaaggtg	8	15	13	5	0	1	3	0	2	1	1	1	5	1	5	1	3	0	2	1	3	1	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr11:64978326A>G	ENST00000527323.1	+	20	2341	c.2101A>G	c.(2101-2103)Acc>Gcc	p.T701A	CAPN1_ENST00000279247.6_Missense_Mutation_p.T701A|CAPN1_ENST00000533820.1_Missense_Mutation_p.T701A|CAPN1_ENST00000533129.1_Missense_Mutation_p.T701A|CAPN1_ENST00000524773.1_Missense_Mutation_p.T701A			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	701	Domain IV.|EF-hand 4.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGAGTTGTGACCTTTGACTT	0.483													24	51					0	0	0	0	G	64978326	A	G	64978326	3	3	487	1	0	0	0	0	1	0	0	0	2647	275	10	5	2179	5	CAPN1	11	64978326	Missense_Mutation	SNP	A	TCGA-TN-A7HI-01A-11D-A34J-08	59201532	64978326	70028190	37	93944											
AKAP3	10566	broad.mit.edu	37	chr12	4735810	4735810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaatcaccgtgggtgctGcacacccttcagggggctgt	7	9	13	12	1	2	1	2	1	0	0	2	1	2	1	2	3	2	3	2	3	1	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:4735810G>A	ENST00000545990.2	-	5	2782	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	AKAP3_ENST00000228850.1_Missense_Mutation_p.A753V	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	753					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CGTGGGTGCTGCACACCCTTC	0.527													4	138					0	0	0	0	A	4735810	G	A	4735810	3	1	487	1	0	0	0	0	1	0	0	0	452	1319	46	4	311	4	AKAP3	12	4735810	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08		4735810	129116085	38	93945											
KCNH3	23416	broad.mit.edu	37	chr12	49948282	49948282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgccccgcgcttcagtcGtggcctccgaggggagctca	4	9	14	14	4	2	0	2	0	0	0	4	2	3	1	4	3	2	3	4	3	0	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:49948282G>A	ENST00000257981.6	+	11	2341	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	694					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGCTTCAGTCGTGGCCTCCGA	0.652													30	66					0	0	0	0	A	49948282	G	A	49948282	3	1	487	1	0	0	0	0	1	0	0	0	8086	1145	40	1	2123	1	KCNH3	12	49948282	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	45212472	49948282	83903613	39	93946											
DNAJC14	85406	broad.mit.edu	37	chr12	56221331	56221331	+	Missense_Mutation	SNP	G	G	C																															agcaacgctgcaaggctggaGaatccagccaagagaagagc																										TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:56221331G>C	ENST00000357606.3	-	3	1401	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	DNAJC14_ENST00000317287.5_Missense_Mutation_p.S371C|DNAJC14_ENST00000317269.3_Missense_Mutation_p.S371C			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	371					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGGCTGGAGAATCCAGCCA	0.557													30	105					0	0	0	0	C	56221331	G	C	56221331	3	2	487	1	0	0	0	0	1	0	0	0	4669	942	33	2	1020	2	DNAJC14	12	56221331	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	6273049	56221331	77630564	40	93947	1125	2									
DNAJC14	85406	broad.mit.edu	37	chr12	56221340	56221340	+	Missense_Mutation	SNP	C	C	A																															gcaaggctggagaatccagcCaagagaagagccaggtagcc																										TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:56221340C>A	ENST00000357606.3	-	3	1392	c.1103G>T	c.(1102-1104)tGg>tTg	p.W368L	DNAJC14_ENST00000317287.5_Missense_Mutation_p.W368L|DNAJC14_ENST00000317269.3_Missense_Mutation_p.W368L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	368					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAATCCAGCCAAGAGAAGAG	0.562													28	107					4.4194e-11	4.74504e-11	1	0	A	56221340	C	A	56221340	3	1	487	1	0	0	0	0	1	0	0	0	4669	595	21	4	1029	4	DNAJC14	12	56221340	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	9	56221340	77630555	41	93948	1125	2									
SRGAP1	57522	broad.mit.edu	37	chr12	64505656	64505656	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtcttgccaggcacaTgtgaatgaaattatcaaaac	15	10	8	8	0	2	2	1	2	1	0	2	2	2	2	1	1	2	1	1	1	6	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:64505656T>C	ENST00000355086.3	+	17	2558	c.2034T>C	c.(2032-2034)caT>caC	p.H678H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.H655H|SRGAP1_ENST00000543397.1_Silent_p.H615H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	678	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCAGGCACATGTGAATGAAA	0.443													8	139					0	0	0	0	C	64505656	T	C	64505656	2	2	487	1	0	0	0	0	0	0	0	1	15235	1461	51	5		5	SRGAP1	12	64505656	Silent	SNP	T	TCGA-TN-A7HI-01A-11D-A34J-08	8284316	64505656	69346239	42	93949											
NCOR2	9612	broad.mit.edu	37	chr12	124856569	124856569	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggcgcccactcaccGgttcttgtcgccgccctcgg	2	9	11	19	5	2	0	1	0	1	0	4	0	2	0	5	3	1	1	5	3	0	2	rs147831485	by1000genomes	TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:124856569G>A	ENST00000356219.3	-	21	2961	c.2807_splice	c.e21+1	p.R936_splice	NCOR2_ENST00000397355.1_Splice_Site_p.R919_splice|NCOR2_ENST00000405201.1_Splice_Site_p.R936_splice|NCOR2_ENST00000404121.2_Splice_Site_p.R489_splice|NCOR2_ENST00000429285.2_Splice_Site_p.R918_splice|NCOR2_ENST00000404621.1_Splice_Site_p.R918_splice	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	936					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCCACTCACCGGTTCTTGTCG	0.647													12	26					0	0	0	0	A	124856569	G	A	124856569	5	1	487	1	0	0	0	0	0	0	1	0	10306	1130	39	1	4874	1	NCOR2	12	124856569	Splice_Site	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	60350913	124856569	8995326	43	93950											
CDKL1	8814	broad.mit.edu	37	chr14	50808858	50808858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatactcactcaaaagcCgagcaaatccaaagtcacaa	18	6	5	12	1	4	0	4	0	0	0	5	1	5	0	2	0	3	1	2	0	7	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr14:50808858C>T	ENST00000216378.2	-	5	1093	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	CDKL1_ENST00000356146.1_5'UTR|CDKL1_ENST00000395834.1_Missense_Mutation_p.R150Q			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	149	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACTCAAAAGCCGAGCAAATCC	0.328													4	104					0	0	0	0	T	50808858	C	T	50808858	3	4	487	1	0	0	0	0	1	0	0	0	3182	652	23	1	651	1	CDKL1	14	50808858	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		50808858	56540682	44	93951											
ZFYVE26	23503	broad.mit.edu	37	chr14	68249661	68249661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcaatgggagaatgtaggCccaggagaacggtagaaaga	15	4	17	5	1	0	4	0	0	0	4	0	6	0	4	1	5	1	3	1	5	6	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr14:68249661C>T	ENST00000347230.4	-	21	4346	c.4208G>A	c.(4207-4209)gGc>gAc	p.G1403D	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1403D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1403					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAATGTAGGCCCAGGAGAAC	0.577													40	85					0	0	0	0	T	68249661	C	T	68249661	3	4	487	1	0	0	0	0	1	0	0	0	17763	739	26	4	3499	4	ZFYVE26	14	68249661	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	17440803	68249661	39099879	45	93952											
MTMR10	54893	broad.mit.edu	37	chr15	31245804	31245804	+	Frame_Shift_Del	DEL	A	A	-																															gagtattttccagtgaagatAaccatttctcttcagtttct																										TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr15:31245804delA	ENST00000435680.1	-	11	1194	c.1097delT	c.(1096-1098)tafs	p.L366fs	MTMR10_ENST00000314404.8_Frame_Shift_Del_p.L118fs|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Frame_Shift_Del_p.L284fs	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	366	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGTGAAGATAACCATTTCTC	0.284													2	4	---	---	---	---					-	31245804	A	-	31245804	7	5	487	1	0	1	0	1	0	0	0	0	10009	372	13	0	1260	0	MTMR10	15	31245804	Frame_Shift_Del	DEL	A	TCGA-TN-A7HI-01A-11D-A34J-08		31245804	71285588	46	93953											
CACNA1H	8912	broad.mit.edu	37	chr16	1265068	1265070	+	In_Frame_Del	DEL	TTC	TTC	-																															tagcatttgggttccgtcggTtcttcaaggacaggtgtgtg																										TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr16:1265068_1265070delTTC	ENST00000348261.5	+	28	5274_5276	c.5026_5028delTTC	c.(5026-5028)del	p.F1677del	CACNA1H_ENST00000358590.4_In_Frame_Del_p.F1671del|CACNA1H_ENST00000565831.1_In_Frame_Del_p.F1671del	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1677					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTTCCGTCGGTTCTTCAAGGACA	0.621													10	18	---	---	---	---					-	1265070	TTC	-	1265068	7	5	487	1	0	1	0	1	0	0	0	0	2570	1725	60	0	5132	0	CACNA1H	16	1265068	In_Frame_Del	DEL	TTC	TCGA-TN-A7HI-01A-11D-A34J-08		1265068	89089685	47	93954											
FOXF1	2294	broad.mit.edu	37	chr16	86544260	86544260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcggccatggaccccGcgtcgtccggcccgtccaag	4	4	15	18	8	0	0	0	0	0	0	3	1	2	1	6	4	0	0	6	4	1	0			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr16:86544260G>A	ENST00000262426.4	+	1	128	c.85G>A	c.(85-87)Gcg>Acg	p.A29T		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	29					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CATGGACCCCGCGTCGTCCGG	0.736													11	13					0	0	0	0	A	86544260	G	A	86544260	3	1	487	1	0	0	0	0	1	0	0	0	6052	1087	38	1	87	1	FOXF1	16	86544260	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	85279192	86544260	3810493	48	93955											
DUSP14	11072	broad.mit.edu	37	chr17	35872745	35872745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccacgctgtgtatcgCgtacctgatgaaattccaca	10	10	8	13	3	1	2	1	2	0	0	3	2	2	2	3	0	2	3	3	0	3	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:35872745C>T	ENST00000487847.1	+	2	1349	c.371C>T	c.(370-372)gCg>gTg	p.A124V	DUSP14_ENST00000394389.4_Missense_Mutation_p.A124V|DUSP14_ENST00000394386.1_Missense_Mutation_p.A124V			O95147	DUS14_HUMAN	dual specificity phosphatase 14	124	Tyrosine-protein phosphatase.						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CTGTGTATCGCGTACCTGATG	0.602													22	27					0	0	0	0	T	35872745	C	T	35872745	3	4	487	1	0	0	0	0	1	0	0	0	4850	768	27	1	373	1	DUSP14	17	35872745	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		35872745	45322465	49	93956											
TBX2	6909	broad.mit.edu	37	chr17	59482066	59482066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtgcgaccctcccccCgcgcgggaaccacccacctc	5	5	9	22	6	0	0	0	0	0	0	4	2	1	1	7	1	2	0	7	1	1	0			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:59482066C>T	ENST00000240328.3	+	5	1268	c.987C>T	c.(985-987)ccC>ccT	p.P329P	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	329					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						ACCCTCCCCCCGCGCGGGAAC	0.726													6	6					0	0	0	0	T	59482066	C	T	59482066	2	4	487	1	0	0	0	0	0	0	0	1	15749	639	23	1		1	TBX2	17	59482066	Silent	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	23609321	59482066	21713144	50	93957											
SCN4A	6329	broad.mit.edu	37	chr17	62019186	62019186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggaagaggaggaggcCgatgttgaagagggcaggca	13	3	19	6	1	0	3	0	1	0	2	0	8	0	6	2	6	0	3	2	6	2	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:62019186C>T	ENST00000578147.1	-	24	4532	c.4456G>A	c.(4456-4458)Ggc>Agc	p.G1486S	SCN4A_ENST00000435607.1_Missense_Mutation_p.G1486S			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1486					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGAGGAGGCCGATGTTGAAG	0.582													15	44					0	0	0	0	T	62019186	C	T	62019186	3	4	487	1	0	0	0	0	1	0	0	0	14007	652	23	1	1058	1	SCN4A	17	62019186	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	2537120	62019186	19176024	51	93958											
ABCA6	23460	broad.mit.edu	37	chr17	67132233	67132233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgatatggaaagtcacCtgagaaatcttctttccaaa	14	14	6	7	0	3	2	1	2	2	1	4	4	4	3	2	1	0	0	2	1	5	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:67132233C>A	ENST00000590645.1	-	4	648	c.460G>T	c.(460-462)Ggt>Tgt	p.G154C	ABCA6_ENST00000284425.2_Splice_Site_p.A154_splice			Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	0					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGAAAGTCACCTGAGAAATCT	0.328													20	42					1.56452e-12	1.69767e-12	1	0	A	67132233	C	A	67132233	3	1	487	1	0	0	0	0	1	0	0	0	36	695	24	4	4537	4	ABCA6	17	67132233	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	5113047	67132233	14062977	52	93959											
RNF213	57674	broad.mit.edu	37	chr17	78341825	78341825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccgtctgtctgccctgcGaccacgtgcactgcctgcgc	4	8	10	19	4	2	0	0	0	2	0	2	1	2	0	5	0	5	1	5	0	0	0			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:78341825G>A	ENST00000582970.1	+	44	12180	c.12037G>A	c.(12037-12039)Gac>Aac	p.D4013N	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.D4062N|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.D2086N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			TCTGCCCTGCGACCACGTGCA	0.562													38	90					0	0	0	0	A	78341825	G	A	78341825	3	1	487	1	0	0	0	0	1	0	0	0	13562	1058	37	1	12526	1	RNF213	17	78341825	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	11209592	78341825	2853385	53	93960											
LAMA3	3909	broad.mit.edu	37	chr18	21333768	21333768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcaatataaacaatccTgaaaaactgtaagtacactg	17	10	7	7	0	0	1	0	1	0	0	1	1	1	1	1	0	4	3	1	0	9	4			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr18:21333768T>C	ENST00000313654.9	+	6	1180	c.939T>C	c.(937-939)ccT>ccC	p.P313P	LAMA3_ENST00000399516.3_Silent_p.P313P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	313	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAAACAATCCTGAAAAACTGT	0.368													4	50					0	0	0	0	C	21333768	T	C	21333768	2	2	487	1	0	0	0	0	0	0	0	1	8660	1567	55	5		5	LAMA3	18	21333768	Silent	SNP	T	TCGA-TN-A7HI-01A-11D-A34J-08		21333768	56743480	54	93961											
PRDX2	7001	broad.mit.edu	37	chr19	12907963	12907963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgtgtcactgccaggctTccagccagcgggacaaactg	10	7	11	13	2	1	0	1	0	0	0	3	1	2	1	3	2	4	1	3	2	2	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr19:12907963T>C	ENST00000301522.2	-	6	657	c.529A>G	c.(529-531)Aag>Gag	p.K177E	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Missense_Mutation_p.E133G	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	177					anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTGCCAGGCTTCCAGCCAGCG	0.522											OREG0025274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	46					0	0	0	0	C	12907963	T	C	12907963	3	2	487	1	0	0	0	0	1	0	0	0	12545	1792	62	5	71	5	PRDX2	19	12907963	Missense_Mutation	SNP	T	TCGA-TN-A7HI-01A-11D-A34J-08		12907963	46221020	55	93962											
ZNF781	163115	broad.mit.edu	37	chr19	38160892	38160892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttcccaccagtgtgaattCgattatgttgggtaaggtgg	8	14	13	6	1	0	1	0	1	0	0	2	2	1	1	2	3	0	3	2	3	3	5			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr19:38160892C>T	ENST00000358582.4	-	4	906	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	ZNF781_ENST00000590008.1_Missense_Mutation_p.R53Q|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53Q(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTGTGAATTCGATTATGTTG	0.383													72	179					0	0	0	0	T	38160892	C	T	38160892	3	4	487	1	0	0	0	0	1	0	0	0	18247	884	31	1	829	1	ZNF781	19	38160892	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	25252929	38160892	20968091	56	93963											
SIPA1L3	23094	broad.mit.edu	37	chr19	38573489	38573489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgctgctcagctgcccGcacttccgcaatgagatcgg	7	8	11	15	3	1	1	1	1	0	1	3	3	2	1	3	1	4	5	3	1	1	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr19:38573489G>A	ENST00000222345.6	+	3	1793	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	428					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCAGCTGCCCGCACTTCCGCA	0.647													6	112					0	0	0	0	A	38573489	G	A	38573489	2	1	487	1	0	0	0	0	0	0	0	1	14419	1074	38	1		1	SIPA1L3	19	38573489	Silent	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	412597	38573489	20555494	57	93964											
NLRP13	126204	broad.mit.edu	37	chr19	56424579	56424579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtattacggatatataCgtggtctttaggccaactga	11	14	10	6	2	1	2	0	2	1	0	1	3	1	3	1	3	3	1	1	3	7	7			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr19:56424579C>T	ENST00000588751.1	-	5	628	c.604G>A	c.(604-606)Gta>Ata	p.V202I	NLRP13_ENST00000342929.3_Missense_Mutation_p.V202I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	202							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGGATATATACGTGGTCTTTA	0.498													8	191					0	0	0	0	T	56424579	C	T	56424579	3	4	487	1	0	0	0	0	1	0	0	0	10545	536	19	1	2553	1	NLRP13	19	56424579	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	17851090	56424579	2704404	58	93965											
ADRA1D	146	broad.mit.edu	37	chr20	4229106	4229106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatacgtcgcagaaggCgcggccaaaggcccagaagc	11	2	14	14	4	0	2	0	0	0	2	1	2	0	2	3	4	2	1	3	4	4	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:4229106C>T	ENST00000379453.4	-	1	615	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	167					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TCGCAGAAGGCGCGGCCAAAG	0.667													6	33					0	0	0	0	T	4229106	C	T	4229106	3	4	487	1	0	0	0	0	1	0	0	0	336	768	27	1	1227	1	ADRA1D	20	4229106	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08		4229106	58796414	59	93966											
PLCB1	23236	broad.mit.edu	37	chr20	8741071	8741071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttctgtaaaggcacctGccaaaacagaagatcttatt	14	10	8	9	0	2	2	0	0	2	2	2	2	2	2	2	2	2	3	2	2	6	4			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:8741071G>A	ENST00000378641.3	+	25	3149	c.2674G>A	c.(2674-2676)Gcc>Acc	p.A892T	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.A892T|PLCB1_ENST00000378637.2_Missense_Mutation_p.A892T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	892					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAGGCACCTGCCAAAACAGA	0.358													5	235					0	0	0	0	A	8741071	G	A	8741071	3	1	487	1	0	0	0	0	1	0	0	0	12099	1319	46	4	2772	4	PLCB1	20	8741071	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	4511965	8741071	54284449	60	93967											
RBL1	5933	broad.mit.edu	37	chr20	35635822	35635822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catagaacataccatatggtCctgattcgccaagtcgtatt	12	12	7	10	2	0	2	0	1	0	1	3	2	1	2	3	1	2	1	3	1	6	6			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:35635822C>T	ENST00000373664.3	-	20	2929	c.2863G>A	c.(2863-2865)Gac>Aac	p.D955N	RBL1_ENST00000344359.3_Missense_Mutation_p.D955N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	955					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ACCATATGGTCCTGATTCGCC	0.303													33	142					0	0	0	0	T	35635822	C	T	35635822	3	4	487	1	0	0	0	0	1	0	0	0	13191	855	30	2	364	2	RBL1	20	35635822	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	26894751	35635822	27389698	61	93968											
TGM2	7052	broad.mit.edu	37	chr20	36775191	36775191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgtggttcttccagcGccgcaggatgtccacgctgc	5	8	13	15	4	1	0	0	0	1	0	3	1	3	1	4	2	3	4	4	2	0	2			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:36775191G>A	ENST00000361475.2	-	6	960	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	TGM2_ENST00000536724.1_Missense_Mutation_p.R203C|TGM2_ENST00000536701.1_Missense_Mutation_p.R182C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	263					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			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)	TTCTTCCAGCGCCGCAGGATG	0.652													12	67					0	0	0	0	A	36775191	G	A	36775191	3	1	487	1	0	0	0	0	1	0	0	0	15924	1087	38	1	1340	1	TGM2	20	36775191	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	1139369	36775191	26250329	62	93969											
PREX1	57580	broad.mit.edu	37	chr20	47251276	47251276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtccagctctgacagcGtcacccagatgtcctccagc	8	9	8	16	1	2	2	1	1	1	1	5	2	5	2	4	0	3	1	4	0	0	1			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:47251276G>A	ENST00000396220.1	-	33	4227	c.4205C>T	c.(4204-4206)aCg>aTg	p.T1402M	PREX1_ENST00000371941.3_Missense_Mutation_p.T1402M			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1402					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCTGACAGCGTCACCCAGAT	0.562													40	66					0	0	0	0	A	47251276	G	A	47251276	3	1	487	1	0	0	0	0	1	0	0	0	12556	1145	40	1	806	1	PREX1	20	47251276	Missense_Mutation	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08	10476085	47251276	15774244	63	93970											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-																															cagcctcaccttgcgcaccaCctcctcctcctcctggcgct																										TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gtg>g	p.EV547del	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													8	256	---	---	---	---					-	61833652	CCT	-	61833650	7	5	487	1	0	1	0	1	0	0	0	0	17594	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-TN-A7HI-01A-11D-A34J-08	14582374	61833650	1191870	64	93971											
UMODL1	89766	broad.mit.edu	37	chr21	43531784	43531784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgtagacctgccattgAcctccaccctcacagctctg	7	11	7	16	0	3	2	1	1	2	1	4	2	4	2	5	0	2	3	5	0	1	3			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr21:43531784A>C	ENST00000400427.1	+	11	2632	c.2236A>C	c.(2236-2238)Acc>Ccc	p.T746P	UMODL1_ENST00000408910.2_Missense_Mutation_p.T690P|UMODL1_ENST00000400424.1_Missense_Mutation_p.T618P|UMODL1_ENST00000408989.2_Missense_Mutation_p.T818P	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	734	Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTGCCATTGACCTCCACCCT	0.582													6	39					0	0	0	0	C	43531784	A	C	43531784	3	2	487	1	0	0	0	0	1	0	0	0	17076	275	10	5	2494	5	UMODL1	21	43531784	Missense_Mutation	SNP	A	TCGA-TN-A7HI-01A-11D-A34J-08		43531784	4598111	65	93972											
RRP1	8568	broad.mit.edu	37	chr21	45213265	45213265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacgggcattgacaggctgCgcctggataaattctacatg	10	9	13	9	2	1	1	0	1	1	0	1	3	1	3	1	4	2	2	1	4	3	4			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr21:45213265C>T	ENST00000497547.1	+	4	457	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	114					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TGACAGGCTGCGCCTGGATAA	0.622													5	175					0	0	0	0	T	45213265	C	T	45213265	3	4	487	1	0	0	0	0	1	0	0	0	13770	768	27	1	354	1	RRP1	21	45213265	Missense_Mutation	SNP	C	TCGA-TN-A7HI-01A-11D-A34J-08	1681481	45213265	2916630	66	93973											
OTC	5009	broad.mit.edu	37	chrX	38240682	38240682	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcacggacacggcccGgtttgtaaatattttcttct	9	14	8	10	3	3	0	1	0	3	0	4	1	3	1	1	3	0	2	1	3	4	6	rs66656800		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chrX:38240682G>A	ENST00000039007.4	+	4	538	c.386_splice	c.e4+1	p.R129_splice	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	129			R -> H (in OTCD; 2.1% of wild-type activity; early onset).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GACACGGCCCGGTTTGTAAAT	0.348													27	26					0	0	0	0	A	38240682	G	A	38240682	5	1	487	1	0	0	0	0	0	0	1	0	11372	1130	39	1	400	1	OTC	23	38240682	Splice_Site	SNP	G	TCGA-TN-A7HI-01A-11D-A34J-08		38240682	117029878	67	93974											
TAS1R1	80835	broad.mit.edu	37	chr1	6638722	6638722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccctttcagacctctacaGatgccagccttgtgggaaag	9	11	9	12	0	2	2	1	0	1	2	3	3	3	3	4	1	3	0	4	1	2	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:6638722G>C	ENST00000333172.6	+	6	1797	c.1604G>C	c.(1603-1605)aGa>aCa	p.R535T	TAS1R1_ENST00000351136.3_Missense_Mutation_p.R281T|TAS1R1_ENST00000328191.4_Missense_Mutation_p.D424H	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	535					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GACCTCTACAGATGCCAGCCT	0.537													4	68					0	0	0	0	C	6638722	G	C	6638722	3	2	488	1	0	0	0	0	1	0	0	0	15653	942	33	2	1626	2	TAS1R1	1	6638722	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08		6638722	242611899	1	93975											
TAS1R1	80835	broad.mit.edu	37	chr1	6639282	6639282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgatgcttgagtgcacaGagaccaactccctgggcttc	8	10	12	11	0	0	3	0	2	0	1	2	4	1	3	2	2	3	3	2	2	1	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:6639282G>C	ENST00000333172.6	+	6	2357	c.2164G>C	c.(2164-2166)Gag>Cag	p.E722Q	TAS1R1_ENST00000351136.3_Missense_Mutation_p.E468Q|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	722					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGTGCACAGAGACCAACTC	0.567													8	53					0	0	0	0	C	6639282	G	C	6639282	3	2	488	1	0	0	0	0	1	0	0	0	15653	943	33	2	2186	2	TAS1R1	1	6639282	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	560	6639282	242611339	2	93976											
EPHA10	284656	broad.mit.edu	37	chr1	38197164	38197164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggggaagcggcccggatctGaaagacgtagcgggtagccg	9	4	18	10	6	1	2	0	1	1	1	1	4	1	4	2	5	3	2	2	5	4	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:38197164G>C	ENST00000373048.4	-	7	1581	c.1582C>G	c.(1582-1584)Cag>Gag	p.Q528E	EPHA10_ENST00000427468.2_Missense_Mutation_p.Q528E|EPHA10_ENST00000330210.7_Missense_Mutation_p.Q23E|EPHA10_ENST00000540011.1_Missense_Mutation_p.Q23E|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	528	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCGGATCTGAAAGACGTAG	0.597													17	151					0	0	0	0	C	38197164	G	C	38197164	3	2	488	1	0	0	0	0	1	0	0	0	5204	1299	45	2	1488	2	EPHA10	1	38197164	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	31557882	38197164	211053457	3	93977											
DOCK7	85440	broad.mit.edu	37	chr1	62939740	62939740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttcagacagaaaaaccTgggcaacttccaaaggcccc	14	7	8	12	0	1	2	1	0	0	2	2	2	2	2	4	2	2	2	4	2	5	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:62939740T>C	ENST00000251157.5	-	47	6125	c.6092A>G	c.(6091-6093)cAg>cGg	p.Q2031R	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Missense_Mutation_p.Q2011R	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2042	DHR-2.				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						CAGAAAAACCTGGGCAACTTC	0.343													10	66					0	0	0	0	C	62939740	T	C	62939740	3	2	488	1	0	0	0	0	1	0	0	0	4728	1580	55	5	309	5	DOCK7	1	62939740	Missense_Mutation	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08	24742576	62939740	186310881	4	93978											
JAK1	3716	broad.mit.edu	37	chr1	65301155	65301155	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcttgtgactgtcatcTggccatgggttgggcctatc	6	13	12	10	0	3	1	1	1	2	0	4	1	3	1	2	3	0	1	2	3	2	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:65301155T>A	ENST00000342505.4	-	24	3541	c.3293A>T	c.(3292-3294)cAg>cTg	p.Q1098L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1098	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			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)		GACTGTCATCTGGCCATGGGT	0.398			Mis		ALL								4	143					0	0	0	0	A	65301155	T	A	65301155	3	1	488	1	0	0	0	0	1	0	0	0	7990	1580	55	5	179	5	JAK1	1	65301155	Missense_Mutation	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08	2361415	65301155	183949466	5	93979											
LRRC7	57554	broad.mit.edu	37	chr1	70446125	70446125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataataatgcattacaaGtgttacctggggtatgtaag	13	13	11	4	0	0	0	0	0	0	0	0	1	0	1	1	3	3	4	1	3	7	6			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:70446125G>A	ENST00000310961.5	+	10	1094	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	LRRC7_ENST00000035383.5_Missense_Mutation_p.V221M|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	221						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGCATTACAAGTGTTACCTGG	0.343													31	124					0	0	0	0	A	70446125	G	A	70446125	3	1	488	1	0	0	0	0	1	0	0	0	9084	1029	36	4	687	4	LRRC7	1	70446125	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	5144970	70446125	178804496	6	93980											
SSX2IP	117178	broad.mit.edu	37	chr1	85121552	85121552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagcggcttctgtaaagcttCgtctctccctctcaaaattc	8	14	6	13	2	3	0	1	0	3	0	8	0	4	0	1	1	2	3	1	1	5	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:85121552C>T	ENST00000437941.2	-	10	1623	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	SSX2IP_ENST00000370612.4_Missense_Mutation_p.R451Q|SSX2IP_ENST00000342203.3_Missense_Mutation_p.R451Q|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R424Q	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	451					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGTAAAGCTTCGTCTCTCCCT	0.413													10	104					0	0	0	0	T	85121552	C	T	85121552	3	4	488	1	0	0	0	0	1	0	0	0	15294	884	31	1	508	1	SSX2IP	1	85121552	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	14675427	85121552	164129069	7	93981											
ARHGAP29	9411	broad.mit.edu	37	chr1	94655540	94655540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaattcactgtactcttGgcctgggtcatagagtttgg	9	13	11	8	0	3	1	2	0	1	1	3	2	3	1	1	3	1	2	1	3	3	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:94655540G>T	ENST00000260526.6	-	13	1563	c.1381C>A	c.(1381-1383)Caa>Aaa	p.Q461K	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	461					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTGTACTCTTGGCCTGGGTCA	0.398													13	105					0.00244969	0.00250601	1	0	T	94655540	G	T	94655540	3	4	488	1	0	0	0	0	1	0	0	0	880	1357	47	4	2448	4	ARHGAP29	1	94655540	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	9533988	94655540	154595081	8	93982											
TNFAIP8L2	79626	broad.mit.edu	37	chr1	151131291	151131291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacaagcagtgaggtgctaGatgagctctaccgtgtgtcc	10	9	13	9	1	1	4	0	2	1	2	2	4	2	4	2	1	4	3	2	1	3	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:151131291G>C	ENST00000368910.3	+	2	244	c.118G>C	c.(118-120)Gat>Cat	p.D40H		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	40					innate immune response					lung(1)|skin(2)	3	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)			TGAGGTGCTAGATGAGCTCTA	0.557													12	68					0	0	0	0	C	151131291	G	C	151131291	3	2	488	1	0	0	0	0	1	0	0	0	16372	942	33	2	120	2	TNFAIP8L2	1	151131291	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	56475751	151131291	98119330	9	93983											
FLG	2312	broad.mit.edu	37	chr1	152276466	152276466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggagctgtctgctgaCtgctggtggtgggatccatg	4	13	16	8	0	2	1	0	1	2	0	3	3	3	3	1	4	3	3	1	4	0	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:152276466C>T	ENST00000368799.1	-	3	10931	c.10896G>A	c.(10894-10896)caG>caA	p.Q3632Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3632	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGCTGACTGCTGGTGGT	0.557									Ichthyosis				69	1085					0	0	0	0	T	152276466	C	T	152276466	2	4	488	1	0	0	0	0	0	0	0	1	5967	564	20	4		4	FLG	1	152276466	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	1145175	152276466	96974155	10	93984											
FLG	2312	broad.mit.edu	37	chr1	152280354	152280354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggagctgtctgctgaCtgctggtggtgggatccgtg	3	13	17	8	1	2	1	0	1	2	0	3	3	3	3	1	4	3	3	1	4	0	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:152280354C>T	ENST00000368799.1	-	3	7043	c.7008G>A	c.(7006-7008)caG>caA	p.Q2336Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2336	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGCTGACTGCTGGTGGT	0.562									Ichthyosis				19	631					0	0	0	0	T	152280354	C	T	152280354	2	4	488	1	0	0	0	0	0	0	0	1	5967	564	20	4		4	FLG	1	152280354	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	3888	152280354	96970267	11	93985											
MTX1	4580	broad.mit.edu	37	chr1	155180166	155180166	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttactggtgctccactGaaggtacacaagatcagcaa	14	9	9	9	0	1	3	1	1	0	2	2	3	2	3	1	2	4	3	1	2	5	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:155180166G>T	ENST00000368376.3	+	2	664	c.558G>T	c.(556-558)ctG>ctT	p.L186L	MTX1_ENST00000481771.1_3'UTR|MTX1_ENST00000316721.4_Silent_p.L186L	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	186					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCTCCACTGAAGGTACACA	0.517													22	140					2.39556e-15	2.64851e-15	1	0	T	155180166	G	T	155180166	2	4	488	1	0	0	0	0	0	0	0	1	10037	1277	45	2		2	MTX1	1	155180166	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	2899812	155180166	94070455	12	93986											
FCRL1	115350	broad.mit.edu	37	chr1	157773849	157773849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggcatcttacacgtcagGgtcactgggctcccctctgt	7	10	11	13	1	4	0	2	0	2	0	5	0	5	0	2	3	1	2	2	3	2	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:157773849G>A	ENST00000358292.3	-	3	156	c.105C>T	c.(103-105)acC>acT	p.T35T	FCRL1_ENST00000491942.1_Silent_p.T35T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.T35T	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	35	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TACACGTCAGGGTCACTGGGC	0.527													9	117					0	0	0	0	A	157773849	G	A	157773849	2	1	488	1	0	0	0	0	0	0	0	1	5839	1219	43	4		4	FCRL1	1	157773849	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	2593683	157773849	91476772	13	93987											
UHMK1	127933	broad.mit.edu	37	chr1	162467790	162467790	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgcccttaacccacaccGatggcgggatccggctgcgc	6	6	12	17	5	0	0	0	0	0	0	1	2	1	1	5	3	3	1	5	3	1	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:162467790G>A	ENST00000489294.1	+	0	158				UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000538489.1_De_novo_Start_InFrame	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1						cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACCCACACCGATGGCGGGAT	0.736													9	74					0	0	0	0	A	162467790	G	A	162467790	1	1	488	1	0	0	0	0	0	0	0	0	17062	1073	37	1		1	UHMK1	1	162467790	Translation_Start_Site	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	4693941	162467790	86782831	14	93988											
TNR	7143	broad.mit.edu	37	chr1	175365923	175365923	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctgataccagccactcGcaagtcctctggaggggcaa	9	7	12	13	2	1	1	0	1	1	0	4	2	2	2	3	3	2	3	3	3	3	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:175365923G>A	ENST00000367674.1	-	5	1705	c.997C>T	c.(997-999)Cga>Tga	p.R333*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R333*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	333	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCCACTCGCAAGTCCTCT	0.572													5	200					0	0	0	0	A	175365923	G	A	175365923	4	1	488	1	0	0	0	0	0	1	0	0	16432	1095	38	1	3155	1	TNR	1	175365923	Nonsense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	12898133	175365923	73884698	15	93989											
KIAA1614	57710	broad.mit.edu	37	chr1	180885943	180885943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatcatccacattcccaGcccaaggacaggaaggtcct	14	6	7	14	0	1	0	1	0	0	0	4	2	4	2	4	3	1	0	4	3	4	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:180885943G>A	ENST00000367588.4	+	2	759	c.704G>A	c.(703-705)aGc>aAc	p.S235N		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	235										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CACATTCCCAGCCCAAGGACA	0.577													29	271					0	0	0	0	A	180885943	G	A	180885943	3	1	488	1	0	0	0	0	1	0	0	0	8299	971	34	4	710	4	KIAA1614	1	180885943	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	5520020	180885943	68364678	16	93990											
PKP1	5317	broad.mit.edu	37	chr1	201287782	201287783	+	Frame_Shift_Ins	INS	-	-	GG																															tcttccactgacgagctgaaINSggaggaactcattgccgacg																										TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:201287782_201287783insGG	ENST00000263946.3	+	6	1342_1343	c.1091_1092insGG	c.(1090-1092)agafs	p.R364fs	PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Frame_Shift_Ins_p.R364fs|PKP1_ENST00000367324.3_Frame_Shift_Ins_p.R364fs	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	364					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GACGAGCTGAAGGAGGAACTCA	0.589													13	54	---	---	---	---					GG	201287783	-	GG	201287782	7	5	488	1	0	1	1	0	0	0	0	0	12056	72	3	0	1113	0	PKP1	1	201287782	Frame_Shift_Ins	INS	-	TCGA-TN-A7HJ-01A-12D-A34J-08	20401839	201287782	47962839	17	93991											
TNNT2	7139	broad.mit.edu	37	chr1	201333455	201333455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgccgctccttctcccGctcattccggatgcgctgct	2	13	9	17	4	3	0	1	0	2	0	6	1	5	1	4	1	3	5	4	1	0	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:201333455G>A	ENST00000509001.1	-	10	716	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	TNNT2_ENST00000458432.2_Missense_Mutation_p.R156W|TNNT2_ENST00000360372.4_Missense_Mutation_p.R139W|TNNT2_ENST00000421663.2_Missense_Mutation_p.R146W|TNNT2_ENST00000367315.2_Missense_Mutation_p.R144W|TNNT2_ENST00000367318.5_Missense_Mutation_p.R144W|TNNT2_ENST00000367322.1_Missense_Mutation_p.R144W|TNNT2_ENST00000367320.2_Missense_Mutation_p.R114W|TNNT2_ENST00000367317.4_Missense_Mutation_p.R144W|TNNT2_ENST00000236918.7_Missense_Mutation_p.R149W	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	154					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTTCTCCCGCTCATTCCGG	0.667													5	29					0	0	0	0	A	201333455	G	A	201333455	3	1	488	1	0	0	0	0	1	0	0	0	16425	1086	38	1	467	1	TNNT2	1	201333455	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	45673	201333455	47917166	18	93992											
NAV1	89796	broad.mit.edu	37	chr1	201763688	201763688	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagggagcccttaatgcctCagaaaccacacccaaaggta	14	6	8	13	0	2	1	2	0	0	1	2	2	2	2	4	2	3	1	4	2	4	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:201763688C>G	ENST00000367296.4	+	15	3920	c.3500C>G	c.(3499-3501)tCa>tGa	p.S1167*	NAV1_ENST00000367295.1_Nonsense_Mutation_p.S776*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.S1110*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.S1123*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Nonsense_Mutation_p.S1159*|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Nonsense_Mutation_p.S1167*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1167					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTTAATGCCTCAGAAACCACA	0.468													8	77					0	0	0	0	G	201763688	C	G	201763688	4	3	488	1	0	0	0	0	0	1	0	0	10253	838	29	2	3615	2	NAV1	1	201763688	Nonsense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	430233	201763688	47486933	19	93993											
TP53BP2	7159	broad.mit.edu	37	chr1	223991102	223991102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttttgacacagccaggacGagctccctctgtttttgctg	7	13	9	12	1	1	1	0	1	1	0	2	3	2	2	2	1	3	3	2	1	0	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:223991102G>A	ENST00000391878.2	-	8	1083	c.315C>T	c.(313-315)ctC>ctT	p.L105L	TP53BP2_ENST00000343537.7_Silent_p.L234L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	228					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CAGCCAGGACGAGCTCCCTCT	0.448													25	102					0	0	0	0	A	223991102	G	A	223991102	2	1	488	1	0	0	0	0	0	0	0	1	16479	1045	37	1		1	TP53BP2	1	223991102	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	22227414	223991102	25259519	20	93994											
CHRM3	1131	broad.mit.edu	37	chr1	240070945	240070945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgggaggtcataccgTctggcaagtggtcttcatcg	6	11	12	12	2	5	0	2	0	3	0	6	1	5	1	2	4	1	1	2	4	2	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:240070945T>A	ENST00000255380.4	+	5	973	c.194T>A	c.(193-195)gTc>gAc	p.V65D		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	65			V -> I (in dbSNP:rs2067481).		cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGTCATACCGTCTGGCAAGTG	0.517													9	98					0	0	0	0	A	240070945	T	A	240070945	3	1	488	1	0	0	0	0	1	0	0	0	3407	1667	58	5	196	5	CHRM3	1	240070945	Missense_Mutation	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08	16079843	240070945	9179676	21	93995											
ADCY3	109	broad.mit.edu	37	chr2	25042882	25042882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttatcccgccccttcaaGaagaaggtcagcagctcccc	10	7	8	16	1	2	2	2	0	0	2	4	2	4	2	5	1	3	3	5	1	4	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:25042882G>A	ENST00000260600.5	-	21	4205	c.3354C>T	c.(3352-3354)ttC>ttT	p.F1118F	CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Silent_p.F705F|CENPO_ENST00000473706.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1118					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCCCTTCAAGAAGAAGGTCA	0.587													6	22					0	0	0	0	A	25042882	G	A	25042882	2	1	488	1	0	0	0	0	0	0	0	1	295	933	33	2		2	ADCY3	2	25042882	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08		25042882	218156491	22	93996											
DNMT3A	1788	broad.mit.edu	37	chr2	25505442	25505442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccttctgccccccagcagGgctcccctcctctggctggg	2	8	11	20	0	2	0	0	0	2	0	4	0	4	0	7	3	2	3	7	3	0	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:25505442G>A	ENST00000264709.3	-	4	653	c.316C>T	c.(316-318)Cct>Tct	p.P106S	DNMT3A_ENST00000406659.3_Missense_Mutation_p.P106S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P106S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	106					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCCAGCAGGGCTCCCCTCC	0.652			"Mis, F, N, S"		AML								4	48					0	0	0	0	A	25505442	G	A	25505442	3	1	488	1	0	0	0	0	1	0	0	0	4712	1232	43	4	2635	4	DNMT3A	2	25505442	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	462560	25505442	217693931	23	93997											
SPTBN1	6711	broad.mit.edu	37	chr2	54849515	54849515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaccttctggaatggattGaacaaaccatcatcattctg	12	12	7	10	0	4	2	2	2	2	0	4	4	4	4	2	2	2	0	2	2	3	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:54849515G>C	ENST00000333896.5	+	8	1301	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E319Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	319					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAATGGATTGAACAAACCAT	0.413													11	110					0	0	0	0	C	54849515	G	C	54849515	3	2	488	1	0	0	0	0	1	0	0	0	15209	1291	45	2	1098	2	SPTBN1	2	54849515	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	29344073	54849515	188349858	24	93998											
TSGA10	80705	broad.mit.edu	37	chr2	99725295	99725295	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttgttttttgtaagtttaCctgttcataaagaaggaaga	13	17	8	3	0	1	2	1	0	0	2	1	3	1	3	1	1	1	4	1	1	6	9			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:99725295C>T	ENST00000393483.3	-	7	1055		c.e7+1		TSGA10_ENST00000478090.1_Splice_Site|TSGA10_ENST00000410001.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000539964.1_Splice_Site	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGTAAGTTTACCTGTTCATAA	0.323													21	48					0	0	0	0	T	99725295	C	T	99725295	5	4	488	1	0	0	0	0	0	0	1	0	16712	521	18	4	1945	4	TSGA10	2	99725295	Splice_Site	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	44875780	99725295	143474078	25	93999											
BUB1	699	broad.mit.edu	37	chr2	111398996	111398996	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagagatgacaagaccttGaggcatcactttttcagggg	14	9	11	7	0	2	4	2	2	0	2	2	5	2	4	1	3	0	1	1	3	3	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:111398996G>A	ENST00000535254.1	-	21	2678	c.2611C>T	c.(2611-2613)Caa>Taa	p.Q871*	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Nonsense_Mutation_p.Q891*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	891	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACAAGACCTTGAGGCATCACT	0.353													10	127					0	0	0	0	A	111398996	G	A	111398996	4	1	488	1	0	0	0	0	0	1	0	0	1579	1299	45	2	602	2	BUB1	2	111398996	Nonsense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	11673701	111398996	131800377	26	94000											
CLASP1	23332	broad.mit.edu	37	chr2	122202539	122202539	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctttagtggtagtaccatCtttaagcaaattaaaaaaca	16	12	6	7	1	1	0	0	0	1	0	1	0	1	0	1	1	3	4	1	1	8	7			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:122202539C>A	ENST00000397587.3	-	20	2302		c.e20-1		CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000263710.4_Intron|CLASP1_ENST00000545861.1_Splice_Site|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000409078.3_Intron	NM_001142273.1|NM_001142274.1	NP_001135745.1|NP_001135746.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1						axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GTAGTACCATCTTTAAGCAAA	0.388													5	20					0.000602214	0.000619619	1	0	A	122202539	C	A	122202539	5	1	488	1	0	0	0	0	0	0	1	0	3484	927	32	2	2840	2	CLASP1	2	122202539	Splice_Site	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	10803543	122202539	120996834	27	94001											
WDR33	55339	broad.mit.edu	37	chr2	128481927	128481927	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtatggtcatttgagccTgagcagagaatatgcccaag	12	10	11	8	0	1	3	1	2	0	1	1	4	1	3	2	1	3	2	2	1	5	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:128481927T>A	ENST00000322313.4	-	11	1334	c.1176A>T	c.(1174-1176)tcA>tcT	p.S392S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	392					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CATTTGAGCCTGAGCAGAGAA	0.428													10	63					0	0	0	0	A	128481927	T	A	128481927	2	1	488	1	0	0	0	0	0	0	0	1	17383	1567	55	5		5	WDR33	2	128481927	Silent	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08	6279388	128481927	114717446	28	94002											
MCM6	4175	broad.mit.edu	37	chr2	136615495	136615495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctttagtgatggatatgGtctgctgttccatagcttca	7	16	10	8	0	2	1	1	1	1	0	3	2	3	2	1	2	3	4	1	2	3	6			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:136615495G>A	ENST00000264156.2	-	10	1502	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	481	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GATGGATATGGTCTGCTGTTC	0.408													20	138					0	0	0	0	A	136615495	G	A	136615495	3	1	488	1	0	0	0	0	1	0	0	0	9460	1261	44	4	1055	4	MCM6	2	136615495	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	8133568	136615495	106583878	29	94003											
HNMT	3176	broad.mit.edu	37	chr2	138771380	138771380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagctgtggaaaaagtacGgatcacgctttccccaggat	13	8	10	10	2	1	0	1	0	0	0	2	3	2	3	2	3	2	3	2	3	4	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:138771380G>A	ENST00000280097.3	+	6	741	c.559G>A	c.(559-561)Gga>Aga	p.G187R	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.G187R	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	187					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GAAAAAGTACGGATCACGCTT	0.453													9	51					0	0	0	0	A	138771380	G	A	138771380	3	1	488	1	0	0	0	0	1	0	0	0	7305	1117	39	1	799	1	HNMT	2	138771380	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	2155885	138771380	104427993	30	94004											
GALNT13	114805	broad.mit.edu	37	chr2	155102337	155102337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgcaggaaaacggttgtCtgccctatcattgatgtgat	9	13	10	9	1	3	2	1	2	2	0	3	3	3	3	1	2	3	2	1	2	3	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:155102337C>T	ENST00000392825.3	+	7	1266	c.699C>T	c.(697-699)gtC>gtT	p.V233V	GALNT13_ENST00000409237.1_Silent_p.V233V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	233						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAACGGTTGTCTGCCCTATCA	0.348													15	97					0	0	0	0	T	155102337	C	T	155102337	2	4	488	1	0	0	0	0	0	0	0	1	6260	900	32	2		2	GALNT13	2	155102337	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	16330957	155102337	88097036	31	94005											
TTC21B	79809	broad.mit.edu	37	chr2	166755204	166755204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtatttacctggcttaCgttctaaaagctgctgtaaa	11	14	9	7	1	1	0	0	0	1	0	1	0	1	0	1	2	4	7	1	2	8	8	rs142022626	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:166755204C>T	ENST00000243344.7	-	22	3079	c.2942G>A	c.(2941-2943)cGt>cAt	p.R981H		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	981						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACCTGGCTTACGTTCTAAAAG	0.378													21	64					0	0	0	0	T	166755204	C	T	166755204	3	4	488	1	0	0	0	0	1	0	0	0	16784	536	19	1	1040	1	TTC21B	2	166755204	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	11652867	166755204	76444169	32	94006											
CCDC141	285025	broad.mit.edu	37	chr2	179732769	179732769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacaggccgctgcactgatGagatgatgtcgactcctaag	10	10	11	10	2	0	3	0	3	0	1	2	5	1	3	2	1	2	2	2	1	2	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:179732769G>A	ENST00000420890.2	-	16	2675	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	CCDC141_ENST00000295723.5_Missense_Mutation_p.S278L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	278	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGCACTGATGAGATGATGTC	0.498													13	76					0	0	0	0	A	179732769	G	A	179732769	3	1	488	1	0	0	0	0	1	0	0	0	2800	1294	45	2	1826	2	CCDC141	2	179732769	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	12977565	179732769	63466604	33	94007											
SPATS2L	26010	broad.mit.edu	37	chr2	201304030	201304030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatcttgaaataaagccaGatgagttggcaaagaaaaga	18	8	9	6	0	2	5	1	2	1	3	2	5	2	5	1	1	1	2	1	1	6	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:201304030G>A	ENST00000409988.3	+	7	1154	c.631G>A	c.(631-633)Gat>Aat	p.D211N	SPATS2L_ENST00000451764.2_Missense_Mutation_p.D211N|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409140.3_Missense_Mutation_p.D211N|SPATS2L_ENST00000409718.1_Missense_Mutation_p.D211N|SPATS2L_ENST00000409385.1_Missense_Mutation_p.D151N|SPATS2L_ENST00000409755.3_Missense_Mutation_p.D241N|SPATS2L_ENST00000409151.1_Missense_Mutation_p.D219N|SPATS2L_ENST00000358677.4_Missense_Mutation_p.D211N	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	211						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AATAAAGCCAGATGAGTTGGC	0.413													9	46					0	0	0	0	A	201304030	G	A	201304030	3	1	488	1	0	0	0	0	1	0	0	0	15110	942	33	2	649	2	SPATS2L	2	201304030	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	21571261	201304030	41895343	34	94008											
IHH	3549	broad.mit.edu	37	chr2	219922253	219922253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagtccatacttattgCggtcgcggtctgatgtggtg	6	12	13	10	3	1	1	0	1	1	0	3	1	2	1	2	3	3	1	2	3	2	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:219922253C>A	ENST00000295731.5	-	2	478	c.479G>T	c.(478-480)cGc>cTc	p.R160L		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	160					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATACTTATTGCGGTCGCGGTC	0.622													9	33					2.17888e-05	2.30857e-05	1	0	A	219922253	C	A	219922253	3	1	488	1	0	0	0	0	1	0	0	0	7660	768	27	3	764	3	IHH	2	219922253	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	18618223	219922253	23277120	35	94009											
CSPG5	10675	broad.mit.edu	37	chr3	47618421	47618421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccggcaggagccgttatgCcgcacaaagccactgcggca	10	4	13	14	4	0	0	0	0	0	0	0	2	0	1	4	3	4	4	4	3	2	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627													4	160					0	0	0	0	T	47618421	C	T	47618421	2	4	488	1	0	0	0	0	0	0	0	1	3993	726	26	4		4	CSPG5	3	47618421	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		47618421	150404009	36	94010											
KIAA1524	57650	broad.mit.edu	37	chr3	108300312	108300312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgtgccgacaaagatttgCcaataatcctagacaaggca	15	9	8	9	1	0	2	0	0	0	2	1	3	1	2	3	1	2	1	3	1	5	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:108300312C>T	ENST00000295746.8	-	5	575	c.499G>A	c.(499-501)Gca>Aca	p.A167T	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.A8T	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	167						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAAAGATTTGCCAATAATCCT	0.294													4	86					0	0	0	0	T	108300312	C	T	108300312	3	4	488	1	0	0	0	0	1	0	0	0	8290	739	26	4	2286	4	KIAA1524	3	108300312	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	60681891	108300312	89722118	37	94011											
C3orf72	401089	broad.mit.edu	37	chr3	138669233	138669233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctagaaccactcagctcgtCccgcgccgccgccggctgcc	5	5	11	20	6	1	1	1	0	0	1	3	1	2	1	6	1	3	3	6	1	2	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:138669233C>T	ENST00000383165.3	+	3	478	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	116										large_intestine(1)|lung(3)	4						CTCAGCTCGTCCCGCGCCGCC	0.697													5	59					0	0	0	0	T	138669233	C	T	138669233	3	4	488	1	0	0	0	0	1	0	0	0	2264	855	30	2	357	2	C3orf72	3	138669233	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	30368921	138669233	59353197	38	94012											
GPR149	344758	broad.mit.edu	37	chr3	154147055	154147055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccttcaagttgctagagAggccctggcataaatacatt	11	11	9	10	1	1	1	1	0	0	1	2	2	1	1	2	2	2	3	2	2	5	6			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:154147055A>G	ENST00000389740.2	-	1	449	c.350T>C	c.(349-351)cTc>cCc	p.L117P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	117						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTTGCTAGAGAGGCCCTGGCA	0.512													11	110					0	0	0	0	G	154147055	A	G	154147055	3	3	488	1	0	0	0	0	1	0	0	0	6703	304	11	5	1861	5	GPR149	3	154147055	Missense_Mutation	SNP	A	TCGA-TN-A7HJ-01A-12D-A34J-08	15477822	154147055	43875375	39	94013											
VEPH1	79674	broad.mit.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T																															atgctttcactttgctgaggINStttttttttaagtgcaagta																										TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)actfs	p.T554fs	VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396													7	353	---	---	---	---					T	157081227	-	T	157081226	7	5	488	1	0	1	1	0	0	0	0	0	17250	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-TN-A7HJ-01A-12D-A34J-08	2934171	157081226	40941204	40	94014											
AP2M1	1173	broad.mit.edu	37	chr3	183899568	183899568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactctgaacgcagcatcagCtttatcccgccagatggaga	11	8	10	12	2	2	3	1	1	1	2	3	5	3	3	2	1	3	3	2	1	2	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:183899568C>A	ENST00000382456.3	+	7	1100	c.786C>A	c.(784-786)agC>agA	p.S262R	AP2M1_ENST00000439647.1_Missense_Mutation_p.S262R|AP2M1_ENST00000411763.2_Missense_Mutation_p.S289R|AP2M1_ENST00000292807.5_Missense_Mutation_p.S264R|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000461733.1_3'UTR	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	264	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGCATCAGCTTTATCCCGC	0.557													4	94					0.000602214	0.000619619	1	0	A	183899568	C	A	183899568	3	1	488	1	0	0	0	0	1	0	0	0	743	796	28	4	815	4	AP2M1	3	183899568	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	26818342	183899568	14122862	41	94015											
EHHADH	1962	broad.mit.edu	37	chr3	184922274	184922274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccggagggagttgaccaCttatttgctttcctttcagc	6	14	10	11	1	1	1	1	1	0	0	3	3	3	3	3	2	2	3	3	2	1	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:184922274C>T	ENST00000231887.3	-	6	915	c.840G>A	c.(838-840)aaG>aaA	p.K280K	EHHADH_ENST00000456310.1_Silent_p.K184K	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	280	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GAGTTGACCACTTATTTGCTT	0.493													12	180					0	0	0	0	T	184922274	C	T	184922274	2	4	488	1	0	0	0	0	0	0	0	1	5018	564	20	4		4	EHHADH	3	184922274	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	1022706	184922274	13100156	42	94016											
EIF4A2	1974	broad.mit.edu	37	chr3	186504028	186504028	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttttaaggatcaaatctAtgagattttccaaaaactaa	16	14	6	5	0	2	1	1	1	1	1	3	3	3	2	1	2	1	1	1	2	6	6			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:186504028A>T	ENST00000323963.5	+	6	657	c.593A>T	c.(592-594)tAt>tTt	p.Y198F	EIF4A2_ENST00000356531.5_Missense_Mutation_p.Y103F|EIF4A2_ENST00000440191.2_Missense_Mutation_p.Y199F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	198	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCAAATCTATGAGATTTTC	0.363			T	BCL6	NHL								5	68					0	0	0	0	T	186504028	A	T	186504028	3	4	488	1	0	0	0	0	1	0	0	0	5063	449	16	5	615	5	EIF4A2	3	186504028	Missense_Mutation	SNP	A	TCGA-TN-A7HJ-01A-12D-A34J-08	1581754	186504028	11518402	43	94017											
CLDN16	10686	broad.mit.edu	37	chr3	190106095	190106095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtctgcccatgttgcCatcctgatgggctgcttgcc	3	13	12	13	0	1	1	0	1	1	0	2	1	2	1	4	2	4	3	4	2	0	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:190106095C>T	ENST00000264734.2	+	1	435	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.H63Y	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	63					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CCCATGTTGCCATCCTGATGG	0.498													31	138					0	0	0	0	T	190106095	C	T	190106095	3	4	488	1	0	0	0	0	1	0	0	0	3507	594	21	4	189	4	CLDN16	3	190106095	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	3602067	190106095	7916335	44	94018											
MUC4	4585	broad.mit.edu	37	chr3	195512843	195512843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaagaagagaggtggCgtgacctgtggacactgagg	11	6	18	6	1	0	5	0	3	0	2	0	7	0	6	1	5	0	0	1	5	2	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:195512843C>T	ENST00000463781.3	-	2	6067	c.5608G>A	c.(5608-5610)Gcc>Acc	p.A1870T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1870T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	628					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGAGGTGGCGTGACCTGTG	0.562													3	15					0	0	0	0	T	195512843	C	T	195512843	3	4	488	1	0	0	0	0	1	0	0	0	10048	768	27	1		1	MUC4	3	195512843	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	5406748	195512843	2509587	45	94019											
FBXL5	26234	broad.mit.edu	37	chr4	15613901	15613901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcattaccgttaatgttgtCacagtagtaaaagtattcat	13	14	8	6	1	2	0	2	0	0	0	2	0	2	0	1	1	1	6	1	1	6	7			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:15613901C>T	ENST00000341285.3	-	10	2111	c.1987G>A	c.(1987-1989)Gac>Aac	p.D663N	FBXL5_ENST00000412094.2_Missense_Mutation_p.D646N|FBXL5_ENST00000382358.4_Missense_Mutation_p.D537N	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	663					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TTAATGTTGTCACAGTAGTAA	0.333													18	109					0	0	0	0	T	15613901	C	T	15613901	3	4	488	1	0	0	0	0	1	0	0	0	5767	826	29	2	96	2	FBXL5	4	15613901	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		15613901	175540375	46	94020											
TLR1	7096	broad.mit.edu	37	chr4	38800318	38800318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatttaagattgttgttttCtgggataggtctttaggaac	10	18	10	3	0	2	1	0	0	2	1	2	3	2	3	0	3	1	2	0	3	5	10			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:38800318C>G	ENST00000308979.2	-	4	408	c.135G>C	c.(133-135)caG>caC	p.Q45H	TLR1_ENST00000502213.2_Missense_Mutation_p.Q45H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	45					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGTTGTTTTCTGGGATAGGT	0.313													24	270					0	0	0	0	G	38800318	C	G	38800318	3	3	488	1	0	0	0	0	1	0	0	0	16043	912	32	2	2229	2	TLR1	4	38800318	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	23186417	38800318	152353958	47	94021											
POLR2B	5431	broad.mit.edu	37	chr4	57896426	57896426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcagattgcccatggagCagcccagtttttaagggaaa	11	11	11	8	0	1	1	1	0	0	1	1	3	1	3	2	2	3	2	2	2	2	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:57896426C>A	ENST00000381227.1	+	25	3709	c.3296C>A	c.(3295-3297)gCa>gAa	p.A1099E	POLR2B_ENST00000441246.2_Missense_Mutation_p.A1092E|POLR2B_ENST00000431623.2_Missense_Mutation_p.A1024E|POLR2B_ENST00000314595.5_Missense_Mutation_p.A1099E			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1099					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II 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|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCCCATGGAGCAGCCCAGTTT	0.393													40	119					1.44828e-35	1.62135e-35	1	0	A	57896426	C	A	57896426	3	1	488	1	0	0	0	0	1	0	0	0	12287	710	25	4	3390	4	POLR2B	4	57896426	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	19096108	57896426	133257850	48	94022											
SLC7A11	23657	broad.mit.edu	37	chr4	139100509	139100509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagggcaaccatgaagaGgcatgtgaaggaaaacaaag	19	3	14	5	0	0	3	0	2	0	1	0	5	0	5	1	4	2	2	1	4	7	0	rs149003210		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:139100509G>A	ENST00000280612.5	-	11	1585	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	436					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ACCATGAAGAGGCATGTGAAG	0.448													35	62					0	0	0	0	A	139100509	G	A	139100509	3	1	488	1	0	0	0	0	1	0	0	0	14782	1000	35	4	207	4	SLC7A11	4	139100509	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	81204083	139100509	52053767	49	94023											
ADAM29	11086	broad.mit.edu	37	chr4	175897464	175897464	+	Frame_Shift_Del	DEL	G	G	-																															cattgtagtagatgatgtaaGgaaatctgtgcacctgtatt																										TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:175897464delG	ENST00000359240.3	+	5	1458	c.788delG	c.(787-789)agfs	p.R263fs	ADAM29_ENST00000514159.1_Frame_Shift_Del_p.R263fs|ADAM29_ENST00000404450.4_Frame_Shift_Del_p.R263fs|ADAM29_ENST00000445694.1_Frame_Shift_Del_p.R263fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	263	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGATGTAAGGAAATCTGTG	0.403													20	124	---	---	---	---					-	175897464	G	-	175897464	7	5	488	1	0	1	0	1	0	0	0	0	247	1000	35	0	790	0	ADAM29	4	175897464	Frame_Shift_Del	DEL	G	TCGA-TN-A7HJ-01A-12D-A34J-08	36796955	175897464	15256812	50	94024											
BRD9	65980	broad.mit.edu	37	chr5	878554	878554	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcaagtcgccaaatactGaattattctgcatcgaaagc	14	11	6	10	2	2	1	1	1	1	0	4	2	2	1	1	0	3	1	1	0	6	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:878554G>T	ENST00000323510.4	-	8	898	c.899C>A	c.(898-900)tCa>tAa	p.S300*	BRD9_ENST00000483173.1_Nonsense_Mutation_p.S343*|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000467963.1_Nonsense_Mutation_p.S396*|BRD9_ENST00000388890.4_Nonsense_Mutation_p.S280*			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	396							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCCAAATACTGAATTATTCTG	0.557													4	131					0.000602214	0.000619619	1	0	T	878554	G	T	878554	4	4	488	1	0	0	0	0	0	1	0	0	1515	1294	45	2	630	2	BRD9	5	878554	Nonsense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08		878554	180036706	51	94025											
MYO10	4651	broad.mit.edu	37	chr5	16694713	16694713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcggcgtttccaagagttCatcaggccacctgttccccg	7	9	10	15	3	2	1	2	0	0	1	4	1	4	1	5	2	1	3	5	2	1	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:16694713C>T	ENST00000513610.1	-	27	4021	c.3567G>A	c.(3565-3567)atG>atA	p.M1189I	MYO10_ENST00000427430.2_Missense_Mutation_p.M546I|MYO10_ENST00000274203.9_Missense_Mutation_p.M546I|MYO10_ENST00000515803.1_Missense_Mutation_p.M528I|MYO10_ENST00000505695.1_Missense_Mutation_p.M528I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1189					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAAGAGTTCATCAGGCCAC	0.517													14	139					0	0	0	0	T	16694713	C	T	16694713	3	4	488	1	0	0	0	0	1	0	0	0	10132	826	29	2	2669	2	MYO10	5	16694713	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	15816159	16694713	164220547	52	94026											
VCAN	1462	broad.mit.edu	37	chr5	82815353	82815353	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgaacagaaagccacaGtccaacctcaggctatcaca	14	8	7	12	0	2	2	2	1	0	1	3	2	3	2	3	1	3	2	3	1	4	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:82815353G>C	ENST00000265077.3	+	7	1793	c.1228G>C	c.(1228-1230)Gtc>Ctc	p.V410L	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.V362L|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.V410L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	410	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAAGCCACAGTCCAACCTCA	0.453													19	134					0	0	0	0	C	82815353	G	C	82815353	3	2	488	1	0	0	0	0	1	0	0	0	17234	1029	36	4	1250	4	VCAN	5	82815353	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	66120640	82815353	98099907	53	94027											
VCAN	1462	broad.mit.edu	37	chr5	82816337	82816337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagccaattcatgttacaGagtcttctgtggaaatgacc	12	11	9	9	0	3	3	1	1	2	2	3	4	3	4	2	1	2	1	2	1	3	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:82816337G>C	ENST00000265077.3	+	7	2777	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E690Q|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E738Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	738	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCATGTTACAGAGTCTTCTGT	0.383													7	76					0	0	0	0	C	82816337	G	C	82816337	3	2	488	1	0	0	0	0	1	0	0	0	17234	943	33	2	2234	2	VCAN	5	82816337	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	984	82816337	98098923	54	94028											
PCDHB16	57717	broad.mit.edu	37	chr5	140563856	140563856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctccgcgccctgcactgaGctggtgccccgggcggccga	3	5	16	17	5	0	1	0	1	0	0	1	2	1	1	5	4	3	3	5	4	0	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:140563856G>A	ENST00000361016.2	+	1	2877	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		574	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACTGAGCTGGTGCCCC	0.697													56	65					0	0	0	0	A	140563856	G	A	140563856	2	1	488	1	0	0	0	0	0	0	0	1	11612	962	34	4		4	PCDHB16	5	140563856	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	57747519	140563856	40351404	55	94029											
NPM1	4869	broad.mit.edu	37	chr5	170819713	170819713	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctaataaattgtattttaGctgtggaggaagatgcagag	13	13	12	3	0	1	2	0	0	1	2	1	4	1	4	0	2	2	3	0	2	6	6			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:170819713G>A	ENST00000296930.5	+	5	653		c.e5-1		NPM1_ENST00000517671.1_Splice_Site|NPM1_ENST00000393820.2_Splice_Site|NPM1_ENST00000351986.6_Splice_Site	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGTATTTTAGCTGTGGAGGA	0.383			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								5	22					0	0	0	0	A	170819713	G	A	170819713	5	1	488	1	0	0	0	0	0	0	1	0	10658	985	34	4	370	4	NPM1	5	170819713	Splice_Site	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	30255857	170819713	10095547	56	94030											
DAAM2	23500	broad.mit.edu	37	chr6	39847146	39847146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgcctcggcatgggcctgCccctccctcaggacccctac	4	8	9	20	1	1	0	1	0	0	0	3	1	2	1	7	3	3	1	7	3	1	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:39847146C>A	ENST00000538976.1	+	14	1920	c.1738C>A	c.(1738-1740)Ccc>Acc	p.P580T	DAAM2_ENST00000274867.4_Missense_Mutation_p.P580T|DAAM2_ENST00000398904.2_Missense_Mutation_p.P580T	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	580	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CATGGGCCTGCCCCTCCCTCA	0.662													5	80					1.23904e-05	1.32065e-05	1	0	A	39847146	C	A	39847146	3	1	488	1	0	0	0	0	1	0	0	0	4249	739	26	4	1788	4	DAAM2	6	39847146	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		39847146	131267921	57	94031											
MEP1A	4224	broad.mit.edu	37	chr6	46793105	46793105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcactaccagcctttctCatttaacaagaatgcaagtg	13	11	7	10	0	1	1	1	0	1	1	2	2	1	1	2	0	5	2	2	0	5	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:46793105C>T	ENST00000230588.4	+	8	662	c.653C>T	c.(652-654)tCa>tTa	p.S218L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	218	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGCCTTTCTCATTTAACAAG	0.428													12	93					0	0	0	0	T	46793105	C	T	46793105	3	4	488	1	0	0	0	0	1	0	0	0	9544	838	29	2	683	2	MEP1A	6	46793105	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	6945959	46793105	124321962	58	94032											
GCLC	2729	broad.mit.edu	37	chr6	53374003	53374003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagatagtagccaactgatCataaaggtatctggcctcag	14	9	9	9	0	3	2	2	1	1	1	3	2	3	2	2	2	2	2	2	2	6	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:53374003C>T	ENST00000229416.6	-	7	1282	c.799G>A	c.(799-801)Gat>Aat	p.D267N		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	267					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GCCAACTGATCATAAAGGTAT	0.358													14	104					0	0	0	0	T	53374003	C	T	53374003	3	4	488	1	0	0	0	0	1	0	0	0	6344	826	29	2	1154	2	GCLC	6	53374003	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	6580898	53374003	117741064	59	94033											
GCLC	2729	broad.mit.edu	37	chr6	53374046	53374046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactgcaggcttggaatgtCacctgtttaagaattgcaaa	13	12	9	7	0	1	1	1	0	0	1	1	2	1	2	1	2	3	4	1	2	5	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:53374046C>T	ENST00000229416.6	-	7	1239	c.756G>A	c.(754-756)gtG>gtA	p.V252V		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	252					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTTGGAATGTCACCTGTTTAA	0.413													11	87					0	0	0	0	T	53374046	C	T	53374046	2	4	488	1	0	0	0	0	0	0	0	1	6344	813	29	2		2	GCLC	6	53374046	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	43	53374046	117741021	60	94034											
L3MBTL3	84456	broad.mit.edu	37	chr6	130363878	130363878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctagcacaagtggtcaaGagtttgatgtgttcagtgtt	9	14	11	7	0	3	2	2	1	1	1	3	2	3	2	1	1	1	4	1	1	3	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:130363878G>A	ENST00000529410.1	+	5	513	c.34G>A	c.(34-36)Gag>Aag	p.E12K	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E12K|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E12K|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E12K|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E12K|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E12K			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	12					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGTGGTCAAGAGTTTGATGT	0.378													14	81					0	0	0	0	A	130363878	G	A	130363878	3	1	488	1	0	0	0	0	1	0	0	0	8646	943	33	2	36	2	L3MBTL3	6	130363878	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	76989832	130363878	40751189	61	94035											
C6orf118	168090	broad.mit.edu	37	chr6	165711543	165711543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgagatccatgtccgcCgtcttcaccggcctctgccc	4	9	10	18	4	3	1	1	0	2	1	5	2	5	1	6	2	1	0	6	2	0	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:165711543C>T	ENST00000543069.1	-	5	1253	c.672G>A	c.(670-672)acG>acA	p.T224T	C6orf118_ENST00000230301.8_Silent_p.T328T			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	328										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)		CCATGTCCGCCGTCTTCACCG	0.607													12	45					0	0	0	0	T	165711543	C	T	165711543	2	4	488	1	0	0	0	0	0	0	0	1	2344	639	23	1		1	C6orf118	6	165711543	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	35347665	165711543	5403524	62	94036											
SEMA3A	10371	broad.mit.edu	37	chr7	83590889	83590889	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgagctgcatgaagTctctgtaccagaccttctgg	8	12	12	9	0	2	4	0	3	2	1	3	4	2	4	2	2	3	4	2	2	2	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr7:83590889T>A	ENST00000265362.3	-	17	2428	c.2114A>T	c.(2113-2115)gAc>gTc	p.D705V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D705V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	705					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTGCATGAAGTCTCTGTACCA	0.448													14	113					0	0	0	0	A	83590889	T	A	83590889	3	1	488	1	0	0	0	0	1	0	0	0	14111	1667	58	5	205	5	SEMA3A	7	83590889	Missense_Mutation	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08		83590889	75547774	63	94037											
ARHGEF10	9639	broad.mit.edu	37	chr8	1905420	1905420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctggcagatccctctgctGaatatataagcaggacggcc	10	9	11	11	1	2	2	0	1	2	1	3	3	3	3	2	3	2	3	2	3	4	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:1905420G>A	ENST00000518288.1	+	30	4261	c.4098G>A	c.(4096-4098)ctG>ctA	p.L1366L	ARHGEF10_ENST00000349830.3_Silent_p.L1342L|ARHGEF10_ENST00000398564.1_Silent_p.L1367L|ARHGEF10_ENST00000262112.6_Silent_p.L1338L|ARHGEF10_ENST00000520359.1_Silent_p.L1304L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1367					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCCCTCTGCTGAATATATAAG	0.587													5	19					0	0	0	0	A	1905420	G	A	1905420	2	1	488	1	0	0	0	0	0	0	0	1	896	1277	45	2		2	ARHGEF10	8	1905420	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08		1905420	144458602	64	94038											
IDO1	3620	broad.mit.edu	37	chr8	39776344	39776344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaatcaggtcttgccaaGaaatattgctgttccttact	10	17	6	8	0	2	1	1	0	1	1	3	1	3	1	2	1	3	2	2	1	5	7	rs12545877		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:39776344G>A	ENST00000518237.1	+	4	953	c.314G>A	c.(313-315)aGa>aAa	p.R105K	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R105K|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	105					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GTCTTGCCAAGAAATATTGCT	0.358													9	55					0	0	0	0	A	39776344	G	A	39776344	3	1	488	1	0	0	0	0	1	0	0	0	7554	942	33	2	328	2	IDO1	8	39776344	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	37870924	39776344	106587678	65	94039											
ST18	9705	broad.mit.edu	37	chr8	53030949	53030949	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttaaggttggattcattCagttcctttatttcttcatc	8	21	5	7	0	4	0	3	0	1	0	6	1	5	1	1	2	0	2	1	2	2	10			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:53030949C>G	ENST00000276480.7	-	24	3491	c.2808G>C	c.(2806-2808)ctG>ctC	p.L936L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	936						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGATTCATTCAGTTCCTTTA	0.313													12	163					0	0	0	0	G	53030949	C	G	53030949	2	3	488	1	0	0	0	0	0	0	0	1	15302	813	29	2		2	ST18	8	53030949	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	13254605	53030949	93333073	66	94040											
RP1	6101	broad.mit.edu	37	chr8	55540767	55540767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttgatatggaagaacCacggacttctgaagaaccag	13	10	9	9	1	1	4	0	2	1	2	2	6	2	6	3	2	2	0	3	2	5	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:55540767C>G	ENST00000220676.1	+	4	4473	c.4325C>G	c.(4324-4326)cCa>cGa	p.P1442R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1442					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGGAAGAACCACGGACTTCT	0.343													22	102					0	0	0	0	G	55540767	C	G	55540767	3	3	488	1	0	0	0	0	1	0	0	0	13617	594	21	4	4335	4	RP1	8	55540767	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	2509818	55540767	90823255	67	94041											
CYP7A1	1581	broad.mit.edu	37	chr8	59404982	59404982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctatgatgtcatcttttCggatgttgtaggaaccgtcc	8	14	11	8	2	2	1	1	1	1	0	4	4	3	3	2	2	2	3	2	2	3	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:59404982C>T	ENST00000301645.3	-	5	1282	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	382					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.R382Q(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTCATCTTTTCGGATGTTGTA	0.453									Neonatal Giant Cell Hepatitis				10	116					0	0	0	0	T	59404982	C	T	59404982	3	4	488	1	0	0	0	0	1	0	0	0	4228	884	31	1	377	1	CYP7A1	8	59404982	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	3864215	59404982	86959040	68	94042											
GGH	8836	broad.mit.edu	37	chr8	63942735	63942735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaacttacccattaataGatttgaaaagtatttcatag	15	14	5	7	0	1	2	1	1	0	1	1	2	1	2	2	0	3	1	2	0	8	7			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:63942735G>A	ENST00000260118.6	-	3	668	c.266C>T	c.(265-267)tCt>tTt	p.S89F	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	89	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	CCCATTAATAGATTTGAAAAG	0.294													12	127					0	0	0	0	A	63942735	G	A	63942735	3	1	488	1	0	0	0	0	1	0	0	0	6408	942	33	2	718	2	GGH	8	63942735	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	4537753	63942735	82421287	69	94043											
FER1L6	654463	broad.mit.edu	37	chr8	125033892	125033892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactttgtggaaaaaatcCgctttcttgttgatgaggta	13	14	9	5	1	1	2	0	2	1	0	2	3	2	3	1	2	1	3	1	2	6	5	rs150164383	by1000genomes	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:125033892C>T	ENST00000522917.1	+	17	2322	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R706C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	706						integral to membrane		p.R706S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAAAAAATCCGCTTTCTTGT	0.428													29	112					0	0	0	0	T	125033892	C	T	125033892	3	4	488	1	0	0	0	0	1	0	0	0	5860	652	23	1	2178	1	FER1L6	8	125033892	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	61091157	125033892	21330130	70	94044											
PHF20L1	51105	broad.mit.edu	37	chr8	133858108	133858108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaacttaaacgccacatAaaacagctcctaattgacat	16	8	3	14	1	0	1	0	1	0	0	1	1	1	1	4	0	4	1	4	0	6	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:133858108A>G	ENST00000395386.2	+	21	3293	c.2994A>G	c.(2992-2994)atA>atG	p.I998M	PHF20L1_ENST00000395390.2_Missense_Mutation_p.I973M|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I385M	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	998							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACGCCACATAAAACAGCTCC	0.433													20	105					0	0	0	0	G	133858108	A	G	133858108	3	3	488	1	0	0	0	0	1	0	0	0	11904	352	13	5	3168	5	PHF20L1	8	133858108	Missense_Mutation	SNP	A	TCGA-TN-A7HJ-01A-12D-A34J-08	8824216	133858108	12505914	71	94045											
FAM135B	51059	broad.mit.edu	37	chr8	139209782	139209782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccgtgtgtggcagctctGggatgtcccgcatgatcacc	5	10	13	13	2	2	1	1	1	1	0	4	2	4	2	3	2	1	4	3	2	0	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:139209782G>T	ENST00000395297.1	-	8	970	c.800C>A	c.(799-801)cCa>cAa	p.P267Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	267										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)			TGGCAGCTCTGGGATGTCCCG	0.622										HNSCC(54;0.14)			7	84					2.0095e-06	2.15476e-06	1	0	T	139209782	G	T	139209782	3	4	488	1	0	0	0	0	1	0	0	0	5490	1348	47	4	3472	4	FAM135B	8	139209782	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	5351674	139209782	7154240	72	94046											
ZNF658	26149	broad.mit.edu	37	chr9	40774518	40774518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaaataaagtgattttatCaaagttttttctaaattcat	15	19	4	3	0	3	1	2	1	1	0	3	1	3	1	0	0	0	2	0	0	8	9			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr9:40774518C>T	ENST00000602553.1	-	5	1051	c.757G>A	c.(757-759)Gat>Aat	p.D253N	ZNF658_ENST00000441795.1_Missense_Mutation_p.D251N|ZNF658_ENST00000377626.3_Missense_Mutation_p.D253N			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GTGATTTTATCAAAGTTTTTT	0.353													42	248					0	0	0	0	T	40774518	C	T	40774518	3	4	488	1	0	0	0	0	1	0	0	0	18164	826	29	2	2426	2	ZNF658	9	40774518	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		40774518	100438913	73	94047											
GOLGA2	2801	broad.mit.edu	37	chr9	131022986	131022986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttgaagctgtcctgccaGaccctccagctccttccgca	6	9	9	17	1	0	2	0	1	0	1	4	2	4	2	6	1	3	4	6	1	1	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr9:131022986G>C	ENST00000421699.2	-	17	1447	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	479						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGTCCTGCCAGACCCTCCAGC	0.677													9	67					0	0	0	0	C	131022986	G	C	131022986	3	2	488	1	0	0	0	0	1	0	0	0	6603	933	33	2	1613	2	GOLGA2	9	131022986	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	90248468	131022986	10190445	74	94048											
ZNF518A	9849	broad.mit.edu	37	chr10	97917314	97917314	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagggaccaaacgctagttCaggtttcatgaagactgctg	12	9	12	8	1	2	3	2	1	0	2	2	4	2	4	1	2	2	4	1	2	3	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr10:97917314C>T	ENST00000534948.1	+	0	2092							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACGCTAGTTCAGGTTTCATG	0.408													8	61					0	0	0	0	T	97917314	C	T	97917314	1	4	488	0	1	0	0	0	0	0	0	0	18057	838	29	2		2	ZNF518A	10	97917314	RNA	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		97917314	37617433	75	94049											
OR51F1	256892	broad.mit.edu	37	chr11	4790428	4790428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgggagacacaggtgctGaagaccttgtgccattcttc	10	10	11	10	0	1	3	0	1	1	2	2	4	1	3	2	2	2	1	2	2	1	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:4790428G>A	ENST00000380383.1	-	1	740	c.741C>T	c.(739-741)ttC>ttT	p.F247F	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.F240F|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	240						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACAGGTGCTGAAGACCTTGT	0.488													10	84					0	0	0	0	A	4790428	G	A	4790428	2	1	488	1	0	0	0	0	0	0	0	1	11167	1281	45	2		2	OR51F1	11	4790428	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08		4790428	130216088	76	94050											
FAM160A2	84067	broad.mit.edu	37	chr11	6238878	6238878	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccagacgaaccttcttGgccccctcaggccatgatcc	8	7	9	17	1	2	2	1	1	1	1	3	3	3	2	6	3	1	1	6	3	1	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:6238878G>C	ENST00000265978.4	-	9	2338	c.1980C>G	c.(1978-1980)gcC>gcG	p.A660A	FAM160A2_ENST00000524416.1_Silent_p.A646A|FAM160A2_ENST00000449352.2_Silent_p.A646A	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	646					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAACCTTCTTGGCCCCCTCAG	0.677													6	86					0	0	0	0	C	6238878	G	C	6238878	2	2	488	1	0	0	0	0	0	0	0	1	5510	1335	47	4		4	FAM160A2	11	6238878	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	1448450	6238878	128767638	77	94051											
SCUBE2	57758	broad.mit.edu	37	chr11	9101001	9101001	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacgataattgcctggaatAttcaaacagtcatggacaca	16	9	7	9	1	2	0	2	0	0	0	2	3	2	2	1	2	3	0	1	2	5	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:9101001A>C	ENST00000457346.2	-	3	386	c.312T>G	c.(310-312)aaT>aaG	p.N104K	SCUBE2_ENST00000450649.2_Missense_Mutation_p.N104K|SCUBE2_ENST00000520467.1_Missense_Mutation_p.N104K|SCUBE2_ENST00000309263.3_Missense_Mutation_p.N104K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	104	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGCCTGGAATATTCAAACAGT	0.408													14	123					0	0	0	0	C	9101001	A	C	9101001	3	2	488	1	0	0	0	0	1	0	0	0	14032	446	16	5	2858	5	SCUBE2	11	9101001	Missense_Mutation	SNP	A	TCGA-TN-A7HJ-01A-12D-A34J-08	2862123	9101001	125905515	78	94052											
CYP2R1	120227	broad.mit.edu	37	chr11	14902075	14902075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctgaaaatcggtgtcttCataagtgaatcgttctccaa	11	13	9	8	2	3	2	1	2	2	0	6	2	3	2	1	1	1	2	1	1	5	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:14902075C>T	ENST00000334636.5	-	3	653	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	203					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TCGGTGTCTTCATAAGTGAAT	0.363													16	73					0	0	0	0	T	14902075	C	T	14902075	3	4	488	1	0	0	0	0	1	0	0	0	4205	835	29	2	910	2	CYP2R1	11	14902075	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	5801074	14902075	120104441	79	94053											
LRP4	4038	broad.mit.edu	37	chr11	46911006	46911006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcggaagccagtggggCaggcacaggtgtagttctgg	7	9	17	8	1	2	0	0	0	2	0	2	1	2	1	1	6	2	4	1	6	2	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:46911006C>A	ENST00000378623.1	-	16	2413	c.2171G>T	c.(2170-2172)tGc>tTc	p.C724F		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	724	EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCCAGTGGGGCAGGCACAGGT	0.607											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	94					4.3838e-07	4.72919e-07	1	0	A	46911006	C	A	46911006	3	1	488	1	0	0	0	0	1	0	0	0	9023	710	25	4	3638	4	LRP4	11	46911006	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	32008931	46911006	88095510	80	94054											
OR8J3	81168	broad.mit.edu	37	chr11	55904894	55904894	+	Frame_Shift_Del	DEL	G	G	-																															aaagaacaagaaccctcccaGttgggtggcacattcataga																										TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:55904894delG	ENST00000301529.1	-	1	300	c.301delC	c.(301-303)tgfs	p.L101fs		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AACCCTCCCAGTTGGGTGGCA	0.428													33	203	---	---	---	---					-	55904894	G	-	55904894	7	5	488	1	0	1	0	1	0	0	0	0	11313	1020	36	0	648	0	OR8J3	11	55904894	Frame_Shift_Del	DEL	G	TCGA-TN-A7HJ-01A-12D-A34J-08	8993888	55904894	79101622	81	94055											
PACS1	55690	broad.mit.edu	37	chr11	65983656	65983656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgtgaaggatgtctctGtgcctgtggcagaaataaag	12	9	13	7	1	1	2	0	1	1	1	2	3	1	3	1	2	2	2	1	2	5	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:65983656G>C	ENST00000320580.4	+	5	760	c.727G>C	c.(727-729)Gtg>Ctg	p.V243L		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	243					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GGATGTCTCTGTGCCTGTGGC	0.522													10	83					0	0	0	0	C	65983656	G	C	65983656	3	2	488	1	0	0	0	0	1	0	0	0	11443	1377	48	4	745	4	PACS1	11	65983656	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	10078762	65983656	69022860	82	94056											
NUMA1	4926	broad.mit.edu	37	chr11	71730018	71730018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagaagctggagaacctGagagaaagctgaggagggag	14	4	19	4	0	0	5	0	2	0	3	0	10	0	7	1	4	3	2	1	4	3	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:71730018G>A	ENST00000393695.3	-	10	924	c.593C>T	c.(592-594)tCa>tTa	p.S198L	NUMA1_ENST00000351960.6_Missense_Mutation_p.S198L|NUMA1_ENST00000358965.6_Missense_Mutation_p.S198L|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	198					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGAGAACCTGAGAGAAAGCT	0.517			T	RARA	APL								18	104					0	0	0	0	A	71730018	G	A	71730018	3	1	488	1	0	0	0	0	1	0	0	0	10821	1294	45	2	5826	2	NUMA1	11	71730018	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	5746362	71730018	63276498	83	94057											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810842	106810842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgaaggactctctcattctCatgaaagcatatattaaaga	15	12	6	8	1	3	2	2	1	2	1	6	4	3	3	0	1	1	1	0	1	6	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:106810842C>T	ENST00000526355.1	-	4	1018	c.550G>A	c.(550-552)Gag>Aag	p.E184K	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E184K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E184K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	184					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTCTCATTCTCATGAAAGCAT	0.363													12	92					0	0	0	0	T	106810842	C	T	106810842	3	4	488	1	0	0	0	0	1	0	0	0	6943	835	29	2	1668	2	GUCY1A2	11	106810842	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	35080824	106810842	28195674	84	94058											
SLCO1B1	10599	broad.mit.edu	37	chr12	21375252	21375252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaattgttcaacctgaattGaaatcacttgcactgggttt	12	14	8	7	0	2	3	2	2	0	1	2	3	2	3	1	1	2	3	1	1	4	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:21375252G>C	ENST00000256958.2	+	13	1797	c.1701G>C	c.(1699-1701)ttG>ttC	p.L567F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	567					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AACCTGAATTGAAATCACTTG	0.264													6	80					0	0	0	0	C	21375252	G	C	21375252	3	2	488	1	0	0	0	0	1	0	0	0	14811	1281	45	2	1747	2	SLCO1B1	12	21375252	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08		21375252	112476643	85	94059											
TMTC1	83857	broad.mit.edu	37	chr12	29670383	29670383	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaagcggagctccctctGagaaggctgaagtgctgcag	9	7	14	11	1	1	2	0	2	1	1	2	4	2	3	2	2	5	4	2	2	3	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:29670383G>A	ENST00000256062.5	-	14	2295	c.1822C>T	c.(1822-1824)Cag>Tag	p.Q608*	TMTC1_ENST00000552618.1_Nonsense_Mutation_p.Q740*|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.Q716*|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.Q778*	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	716						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGCTCCCTCTGAGAAGGCTGA	0.512													10	117					0	0	0	0	A	29670383	G	A	29670383	4	1	488	1	0	0	0	0	0	1	0	0	16354	1299	45	2	522	2	TMTC1	12	29670383	Nonsense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	8295131	29670383	104181512	86	94060											
SLC38A1	81539	broad.mit.edu	37	chr12	46591532	46591532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgagttcctttatctccatCctggtctgtgatttttaaat	7	20	6	8	0	2	2	0	2	2	0	5	2	4	2	3	1	0	1	3	1	3	7			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:46591532C>T	ENST00000398637.5	-	16	2027	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	SLC38A1_ENST00000552197.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D445N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	445					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTATCTCCATCCTGGTCTGTG	0.318													7	84					0	0	0	0	T	46591532	C	T	46591532	3	4	488	1	0	0	0	0	1	0	0	0	14689	855	30	2	138	2	SLC38A1	12	46591532	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	16921149	46591532	87260363	87	94061											
CNOT2	4848	broad.mit.edu	37	chr12	70747681	70747681	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcaactacaaccctgctCagcaagccttctaaaaaaaa	16	8	3	14	0	3	0	2	0	1	0	3	0	3	0	3	0	6	2	3	0	8	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:70747681C>T	ENST00000551483.1	+	7	4717	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CNOT2_ENST00000418359.3_Nonsense_Mutation_p.Q537*|CNOT2_ENST00000229195.3_Nonsense_Mutation_p.Q537*			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	537					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CAACCCTGCTCAGCAAGCCTT	0.368													8	65					0	0	0	0	T	70747681	C	T	70747681	4	4	488	1	0	0	0	0	0	1	0	0	3649	827	29	2	1667	2	CNOT2	12	70747681	Nonsense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	24156149	70747681	63104214	88	94062											
PPFIA2	8499	broad.mit.edu	37	chr12	81762966	81762966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatatttccatgtctcTcttcagcctgttaagaaata	11	16	4	10	0	4	1	2	0	2	1	6	1	5	1	2	0	1	1	2	0	5	6			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:81762966T>C	ENST00000550584.2	-	11	1569	c.1274A>G	c.(1273-1275)gAg>gGg	p.E425G	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E425G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E272G|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E407G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E407G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E425G|PPFIA2_ENST00000541570.2_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E425G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E351G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E326G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	351										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCATGTCTCTCTTCAGCCTG	0.308													3	22					0	0	0	0	C	81762966	T	C	81762966	3	2	488	1	0	0	0	0	1	0	0	0	12381	1551	54	5	2583	5	PPFIA2	12	81762966	Missense_Mutation	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08	11015285	81762966	52088929	89	94063											
RBM23	55147	broad.mit.edu	37	chr14	23374207	23374207	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggccatggctgccagTcggtttttctctgcctgggg	2	15	14	10	1	1	0	0	0	1	0	3	0	1	0	3	5	2	3	3	5	0	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:23374207T>A	ENST00000359890.3	-	9	936	c.741A>T	c.(739-741)cgA>cgT	p.R247R	RBM23_ENST00000399922.2_Silent_p.R231R|RBM23_ENST00000346528.5_Silent_p.R213R|RBM23_ENST00000542016.2_Silent_p.R77R|RBM23_ENST00000555209.1_5'UTR	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	247					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TGGCTGCCAGTCGGTTTTTCT	0.522													27	164					0	0	0	0	A	23374207	T	A	23374207	2	1	488	1	0	0	0	0	0	0	0	1	13205	1654	58	5		5	RBM23	14	23374207	Silent	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08		23374207	83975333	90	94064											
LRFN5	145581	broad.mit.edu	37	chr14	42356272	42356272	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtttgatgatgtcttcgcCcttgaggagctggatctgtc	5	14	13	9	2	2	3	0	3	2	0	4	5	2	5	1	2	1	2	1	2	0	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:42356272C>A	ENST00000554171.1	+	5	2876	c.444C>A	c.(442-444)gcC>gcA	p.A148A	LRFN5_ENST00000554120.1_Silent_p.A148A|LRFN5_ENST00000298119.4_Silent_p.A148A			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	148						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGTCTTCGCCCTTGAGGAGC	0.393										HNSCC(30;0.082)			13	115					1.5842e-08	1.72999e-08	1	0	A	42356272	C	A	42356272	2	1	488	1	0	0	0	0	0	0	0	1	9005	610	22	4		4	LRFN5	14	42356272	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	18982065	42356272	64993268	91	94065											
TGFB3	7043	broad.mit.edu	37	chr14	76429803	76429803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcgccccagatctccaCggccatggtcatcctcattg	7	9	10	15	2	3	2	2	1	1	1	5	2	4	2	5	3	0	0	5	3	0	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:76429803C>T	ENST00000238682.3	-	5	1079	c.782G>A	c.(781-783)cGt>cAt	p.R261H	TGFB3_ENST00000556285.1_Missense_Mutation_p.R261H	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	261					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAGATCTCCACGGCCATGGTC	0.577													10	97					0	0	0	0	T	76429803	C	T	76429803	3	4	488	1	0	0	0	0	1	0	0	0	15913	536	19	1	468	1	TGFB3	14	76429803	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	34073531	76429803	30919737	92	94066											
TRIP11	9321	broad.mit.edu	37	chr14	92472378	92472378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagtttctaacttcagcttCtctttctttaagtaaggtat	10	19	5	7	0	4	0	1	0	3	0	5	0	4	0	0	1	2	4	0	1	5	10			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:92472378C>G	ENST00000267622.4	-	11	2315	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	648					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ACTTCAGCTTCTCTTTCTTTA	0.294			T	PDGFRB	AML								4	71					0	0	0	0	G	92472378	C	G	92472378	3	3	488	1	0	0	0	0	1	0	0	0	16650	922	32	2	4041	2	TRIP11	14	92472378	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	16042575	92472378	14877162	93	94067											
BEGAIN	57596	broad.mit.edu	37	chr14	101012917	101012917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtagtggcgcgtggagtCgaactcggtctcgagcttct	6	10	15	10	5	2	0	0	0	2	0	5	3	2	1	0	4	2	2	0	4	2	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:101012917C>A	ENST00000443071.2	-	2	242	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	BEGAIN_ENST00000355173.2_Missense_Mutation_p.D33Y|BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000556751.1_5'UTR	NM_001159531.1	NP_001153003.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	33						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CGCGTGGAGTCGAACTCGGTC	0.672													9	99					1.11149e-13	1.22127e-13	1	0	A	101012917	C	A	101012917	3	1	488	1	0	0	0	0	1	0	0	0	1401	884	31	3	1704	3	BEGAIN	14	101012917	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	8540539	101012917	6336623	94	94068											
DISP2	85455	broad.mit.edu	37	chr15	40657441	40657441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggagcccctggaggaCagaaggcaagagaacttctt	12	7	14	8	0	1	2	0	0	1	2	1	6	1	5	2	5	2	1	2	5	3	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr15:40657441C>A	ENST00000267889.3	+	6	900	c.813C>A	c.(811-813)gaC>gaA	p.D271E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	271					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCTGGAGGACAGAAGGCAAG	0.607													10	86					1.76689e-08	1.91773e-08	1	0	A	40657441	C	A	40657441	3	1	488	1	0	0	0	0	1	0	0	0	4577	477	17	4	835	4	DISP2	15	40657441	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		40657441	61873951	95	94069											
SLTM	79811	broad.mit.edu	37	chr15	59224633	59224633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctggatcgcctccttcctCttcaatagcctacattagaa	10	13	5	13	1	3	1	1	0	2	1	6	2	5	2	4	1	2	0	4	1	5	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr15:59224633C>G	ENST00000380516.2	-	2	259	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	58					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTCCTTCCTCTTCAATAGCC	0.318													18	155					0	0	0	0	G	59224633	C	G	59224633	3	3	488	1	0	0	0	0	1	0	0	0	14842	922	32	2	3012	2	SLTM	15	59224633	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	18567192	59224633	43306759	96	94070											
AAGAB	79719	broad.mit.edu	37	chr15	67524184	67524184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacattggaccacacattgGcattcagggcttggacaatt	11	11	9	10	0	1	0	1	0	0	0	1	2	1	2	1	4	1	2	1	4	2	6			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr15:67524184G>A	ENST00000261880.5	-	5	607	c.503C>T	c.(502-504)gCc>gTc	p.A168V	AAGAB_ENST00000542650.1_Missense_Mutation_p.A59V|AAGAB_ENST00000561452.1_Missense_Mutation_p.A59V	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	168					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCACACATTGGCATTCAGGGC	0.368													24	411					0	0	0	0	A	67524184	G	A	67524184	3	1	488	1	0	0	0	0	1	0	0	0	15	1203	42	4	468	4	AAGAB	15	67524184	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	8299551	67524184	35007208	97	94071											
POLR3E	55718	broad.mit.edu	37	chr16	22320358	22320358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgacgagaccagcacgtattCctcgtgagtttccggcccca	8	8	10	15	5	0	2	0	1	0	1	3	4	2	2	5	1	1	3	5	1	1	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:22320358C>T	ENST00000299853.5	+	5	445	c.278C>T	c.(277-279)tCc>tTc	p.S93F	POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Missense_Mutation_p.S93F|POLR3E_ENST00000418581.2_Missense_Mutation_p.S57F|POLR3E_ENST00000564209.1_Missense_Mutation_p.S93F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	93					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.S93F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AGCACGTATTCCTCGTGAGTT	0.597													9	55					0	0	0	0	T	22320358	C	T	22320358	3	4	488	1	0	0	0	0	1	0	0	0	12304	855	30	2	292	2	POLR3E	16	22320358	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		22320358	68034395	98	94072											
TAOK2	9344	broad.mit.edu	37	chr16	29998048	29998048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagcagaggattctggggGaagaatcaggagcccctagt	12	6	15	8	0	2	2	1	0	1	2	2	5	2	5	2	4	3	2	2	4	3	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:29998048G>A	ENST00000308893.4	+	16	3498	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K	TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.E646K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	819	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GATTCTGGGGGAAGAATCAGG	0.552													12	113					0	0	0	0	A	29998048	G	A	29998048	3	1	488	1	0	0	0	0	1	0	0	0	15639	1175	41	2	2513	2	TAOK2	16	29998048	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	7677690	29998048	60356705	99	94073											
SRCAP	10847	broad.mit.edu	37	chr16	30750224	30750224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatccctgggaccattTcctctgcaggggatggcaac	7	9	11	14	0	1	0	0	0	1	0	3	2	3	2	4	4	3	2	4	4	1	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:30750224T>C	ENST00000262518.4	+	34	9248	c.8863T>C	c.(8863-8865)Tcc>Ccc	p.S2955P	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2893P|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2797P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2955	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGGACCATTTCCTCTGCAGG	0.587													7	100					0	0	0	0	C	30750224	T	C	30750224	3	2	488	1	0	0	0	0	1	0	0	0	15225	1783	62	5	8989	5	SRCAP	16	30750224	Missense_Mutation	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08	752176	30750224	59604529	100	94074											
ZNF646	9726	broad.mit.edu	37	chr16	31089734	31089734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcggagagctggaccCgggagctagaagacaatgaa	13	4	16	8	2	0	4	0	1	0	3	0	7	0	6	1	4	3	3	1	4	4	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:31089734C>T	ENST00000394979.2	+	1	2512	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R697W			O15015	ZN646_HUMAN	zinc finger protein 646	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGCTGGACCCGGGAGCTAGA	0.642													10	56					0	0	0	0	T	31089734	C	T	31089734	3	4	488	1	0	0	0	0	1	0	0	0	18157	643	23	1	2091	1	ZNF646	16	31089734	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	339510	31089734	59265019	101	94075											
MMP2	4313	broad.mit.edu	37	chr16	55522555	55522555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccactgagggccgcacGgatggctaccgctggtgcgg	6	6	16	13	4	0	1	0	1	0	0	0	2	0	2	3	5	3	4	3	5	1	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:55522555G>A	ENST00000219070.4	+	6	1442	c.933G>A	c.(931-933)acG>acA	p.T311T	MMP2_ENST00000437642.2_Silent_p.T261T|MMP2_ENST00000570308.1_Silent_p.T235T|MMP2_ENST00000543485.1_Silent_p.T235T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	311	Collagen-binding.|Fibronectin type-II 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.T311T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGGGCCGCACGGATGGCTACC	0.627													9	24					0	0	0	0	A	55522555	G	A	55522555	2	1	488	1	0	0	0	0	0	0	0	1	9727	1103	39	1		1	MMP2	16	55522555	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	24432821	55522555	34832198	102	94076											
JPH3	57338	broad.mit.edu	37	chr16	87678215	87678215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagcagagctcctttcGcagcgaggcgggcatgagca	10	5	14	12	3	0	2	0	1	0	1	2	3	1	2	1	2	5	6	1	2	1	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:87678215G>A	ENST00000284262.2	+	2	976	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	245					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCTCCTTTCGCAGCGAGGCG	0.662													11	95					0	0	0	0	A	87678215	G	A	87678215	3	1	488	1	0	0	0	0	1	0	0	0	8015	1087	38	1	740	1	JPH3	16	87678215	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	32155660	87678215	2676538	103	94077											
TM4SF5	9032	broad.mit.edu	37	chr17	4686422	4686422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgcaggacacacctcactGaggctccactgaccgccggg	8	5	11	17	3	1	2	1	2	0	0	3	3	3	3	5	3	0	2	5	3	0	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:4686422G>A	ENST00000270560.3	+	5	624	c.593G>A	c.(592-594)tGa>tAa	p.*198*		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	0						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						ACACCTCACTGAGGCTCCACT	0.537													12	85					0	0	0	0	A	4686422	G	A	4686422	2	1	488	1	0	0	0	0	0	0	0	1	16065	1285	45	2		2	TM4SF5	17	4686422	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08		4686422	76508788	104	94078											
CHD3	1107	broad.mit.edu	37	chr17	7807798	7807798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatcatcaagcaggaggaGaatgtggaccctgactactg	13	7	13	8	0	2	3	2	1	0	2	2	7	2	5	1	3	2	1	1	3	3	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:7807798G>C	ENST00000380358.4	+	25	4111	c.4110G>C	c.(4108-4110)gaG>gaC	p.E1370D	CHD3_ENST00000358181.4_Missense_Mutation_p.E1311D|CHD3_ENST00000330494.7_Missense_Mutation_p.E1311D	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1311					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGCAGGAGGAGAATGTGGACC	0.517													8	96					0	0	0	0	C	7807798	G	C	7807798	3	2	488	1	0	0	0	0	1	0	0	0	3355	933	33	2	4312	2	CHD3	17	7807798	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	3121376	7807798	73387412	105	94079											
DCAKD	79877	broad.mit.edu	37	chr17	43111349	43111349	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtgtctcttctcattaaActgtcagcctccttaagagc	9	14	6	12	0	3	1	2	0	2	1	6	1	4	1	2	0	3	0	2	0	3	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:43111349A>G	ENST00000310604.4	-	4	709	c.378T>C	c.(376-378)agT>agC	p.S126S	DCAKD_ENST00000452796.2_Intron|DCAKD_ENST00000588499.1_Intron|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000342350.5_Intron			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	0	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ttctcattaaactgtcagcct	0.493													3	22					0	0	0	0	G	43111349	A	G	43111349	2	3	488	1	0	0	0	0	0	0	0	1	4311	58	2	5		5	DCAKD	17	43111349	Silent	SNP	A	TCGA-TN-A7HJ-01A-12D-A34J-08	35303551	43111349	38083861	106	94080											
HELZ	9931	broad.mit.edu	37	chr17	65144758	65144758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactcagcagggtaatgctCatagagtcggtcaagtaatg	13	9	12	7	1	3	1	3	0	0	1	4	2	3	1	0	2	3	4	0	2	5	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:65144758C>G	ENST00000358691.5	-	20	2714	c.2548G>C	c.(2548-2550)Gag>Cag	p.E850Q	HELZ_ENST00000580168.1_Missense_Mutation_p.E851Q	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGTAATGCTCATAGAGTCGG	0.473													45	269					0	0	0	0	G	65144758	C	G	65144758	3	3	488	1	0	0	0	0	1	0	0	0	7099	835	29	2	3336	2	HELZ	17	65144758	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	22033409	65144758	16050452	107	94081											
ARSG	22901	broad.mit.edu	37	chr17	66416401	66416401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcctctgattttcaacctgGaagacgataccgcagaagct	11	11	8	11	2	2	3	1	1	1	2	3	5	3	4	3	1	3	2	3	1	4	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:66416401G>A	ENST00000448504.2	+	12	2171	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000452479.2_Missense_Mutation_p.E295K|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	459					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCAACCTGGAAGACGATAC	0.562													7	71					0	0	0	0	A	66416401	G	A	66416401	3	1	488	1	0	0	0	0	1	0	0	0	996	1175	41	2	1417	2	ARSG	17	66416401	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	1271643	66416401	14778809	108	94082											
ARSG	22901	broad.mit.edu	37	chr17	66416435	66416435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagctgtgcccctagaaaGaggtggtgcggagtaccagg	11	6	16	8	1	0	3	0	0	0	3	0	4	0	4	3	4	4	2	3	4	4	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:66416435G>A	ENST00000448504.2	+	12	2205	c.1409G>A	c.(1408-1410)aGa>aAa	p.R470K	RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000452479.2_Missense_Mutation_p.R306K|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	470					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCCTAGAAAGAGGTGGTGCG	0.562													9	87					0	0	0	0	A	66416435	G	A	66416435	3	1	488	1	0	0	0	0	1	0	0	0	996	942	33	2	1451	2	ARSG	17	66416435	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	34	66416435	14778775	109	94083											
GATA6	2627	broad.mit.edu	37	chr18	19780633	19780633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaggcgggtgccccggtGatgactggtgcgggagagag	6	6	20	9	3	0	3	0	2	0	1	0	5	0	4	3	5	3	0	3	5	0	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr18:19780633G>A	ENST00000269216.3	+	7	1912	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.V545V	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	545					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GTGCCCCGGTGATGACTGGTG	0.577													12	83					0	0	0	0	A	19780633	G	A	19780633	2	1	488	1	0	0	0	0	0	0	0	1	6307	1277	45	2		2	GATA6	18	19780633	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08		19780633	58296615	110	94084											
SLC14A2	8170	broad.mit.edu	37	chr18	43207085	43207085	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggacagtggtctcgacctTaacagctctcgccttgggcc	6	9	13	13	2	2	0	0	0	2	0	4	2	2	1	3	4	2	1	3	4	1	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr18:43207085T>A	ENST00000255226.6	+	4	1310	c.494T>A	c.(493-495)tTa>tAa	p.L165*	SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.L165*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	165						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCTCGACCTTAACAGCTCTC	0.512													21	136					0	0	0	0	A	43207085	T	A	43207085	4	1	488	1	0	0	0	0	0	1	0	0	14485	1764	61	5	504	5	SLC14A2	18	43207085	Nonsense_Mutation	SNP	T	TCGA-TN-A7HJ-01A-12D-A34J-08	23426452	43207085	34870163	111	94085											
OR4F17	81099	broad.mit.edu	37	chr19	110700	110700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgactgaattcatttttCtgggtctctctgattctcag	6	18	9	8	0	5	3	2	3	4	0	7	3	5	3	0	2	0	0	0	2	1	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:110700C>T	ENST00000585993.1	+	2	161	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	OR4F17_ENST00000318050.3_Silent_p.L8L			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTCATTTTTCTGGGTCTCTC	0.393													41	825					0	0	0	0	T	110700	C	T	110700	2	4	488	1	0	0	0	0	0	0	0	1	11133	912	32	2		2	OR4F17	19	110700	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		110700	59018283	112	94086											
ZNF699	374879	broad.mit.edu	37	chr19	9408150	9408150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagttttaagttgagtctCaaaacctgaaacgaaaaaaa	19	11	6	5	1	1	2	1	2	1	0	2	3	1	2	1	0	2	2	1	0	8	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:9408150C>G	ENST00000591998.1	-	5	520	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.E98Q			Q32M78	ZN699_HUMAN	zinc finger protein 699	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTTGAGTCTCAAAACCTGAA	0.338													15	146					0	0	0	0	G	9408150	C	G	9408150	3	3	488	1	0	0	0	0	1	0	0	0	18196	835	29	2	1644	2	ZNF699	19	9408150	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	9297450	9408150	49720833	113	94087											
KANK2	25959	broad.mit.edu	37	chr19	11304609	11304609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttctcgatgtcatccacGtacttgaggaagtccaggtc	8	11	9	13	2	2	1	1	1	1	0	6	3	4	2	3	2	1	1	3	2	2	3	rs142504157		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:11304609G>A	ENST00000432929.2	-	4	507	c.147C>T	c.(145-147)taC>taT	p.Y49Y	KANK2_ENST00000586659.1_Silent_p.Y49Y|KANK2_ENST00000589359.1_Silent_p.Y49Y|KANK2_ENST00000589894.1_Silent_p.Y49Y|KANK2_ENST00000355150.5_Silent_p.Y49Y	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	49										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTCATCCACGTACTTGAGGA	0.687													24	99					0	0	0	0	A	11304609	G	A	11304609	2	1	488	1	0	0	0	0	0	0	0	1	8030	1140	40	1		1	KANK2	19	11304609	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	1896459	11304609	47824374	114	94088											
NOTCH3	4854	broad.mit.edu	37	chr19	15302802	15302802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtcgtaagtgaggtcGccactctgcctgcaggtgcc	7	8	13	13	2	1	1	0	1	1	0	3	1	1	1	3	2	3	3	3	2	1	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:15302802G>A	ENST00000263388.2	-	4	723	c.648C>T	c.(646-648)ggC>ggT	p.G216G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	216	EGF-like 5.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGTGAGGTCGCCACTCTGCC	0.657													7	46					0	0	0	0	A	15302802	G	A	15302802	2	1	488	1	0	0	0	0	0	0	0	1	10620	1074	38	1		1	NOTCH3	19	15302802	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	3998193	15302802	43826181	115	94089											
ZNF99	7652	broad.mit.edu	37	chr19	22940045	22940045	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtataaattatcttatgtttCctaagggttgaggaattgtt	11	18	9	3	0	1	1	0	1	1	0	2	2	2	2	1	2	0	4	1	2	7	9			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:22940045C>G	ENST00000397104.3	-	6	2285	c.2286G>C	c.(2284-2286)agG>agC	p.R762S						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCCTAAGGGTTG	0.358													9	85					0	0	0	0	G	22940045	C	G	22940045	3	3	488	1	0	0	0	0	1	0	0	0	18297	854	30	2	834	2	ZNF99	19	22940045	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	7637243	22940045	36188938	116	94090											
FXYD7	53822	broad.mit.edu	37	chr19	35639599	35639599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgcttctttccctcagctCctgaggaacctgacccattt	6	14	6	15	0	3	2	1	2	2	0	5	3	5	3	4	1	3	2	4	1	1	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:35639599C>T	ENST00000270310.2	+	2	118	c.34C>T	c.(34-36)Cct>Tct	p.P12S	FXYD7_ENST00000588265.1_Missense_Mutation_p.P12S|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000586063.1_Missense_Mutation_p.P12S	NM_022006.1	NP_071289.1	P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	12						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			tccctcAGCTCCTGAGGAACC	0.448													15	95					0	0	0	0	T	35639599	C	T	35639599	3	4	488	1	0	0	0	0	1	0	0	0	6171	855	30	2	40	2	FXYD7	19	35639599	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	12699554	35639599	23489384	117	94091											
POLD1	5424	broad.mit.edu	37	chr19	50918125	50918127	+	In_Frame_Del	DEL	CTC	CTC	-																															cgctacgcgggcctgctcttCtcctcccggcccgacgccca																										TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:50918125_50918127delCTC	ENST00000440232.2	+	20	2495_2497	c.2442_2444delCTC	c.(2440-2445)ttc>tt	p.FS814del	POLD1_ENST00000595904.1_In_Frame_Del_p.FS840del|POLD1_ENST00000599857.1_In_Frame_Del_p.FS814del	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	814					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCTGCTCTTCTCCTCCCGGCCC	0.66								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	106	---	---	---	---					-	50918127	CTC	-	50918125	7	5	488	1	0	1	0	1	0	0	0	0	12262	912	32	0	2516	0	POLD1	19	50918125	In_Frame_Del	DEL	CTC	TCGA-TN-A7HJ-01A-12D-A34J-08	15278526	50918125	8210858	118	94092											
SIGLEC12	89858	broad.mit.edu	37	chr19	52000215	52000215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctggccttgccgatttcttCctgcaggacctcactctgag	5	12	10	14	1	3	1	1	1	2	0	4	3	4	2	4	2	2	2	4	2	0	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:52000215C>T	ENST00000291707.3	-	7	1573	c.1518G>A	c.(1516-1518)agG>agA	p.R506R	SIGLEC12_ENST00000598614.1_Silent_p.R388R	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	506					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCGATTTCTTCCTGCAGGACC	0.572													16	103					0	0	0	0	T	52000215	C	T	52000215	2	4	488	1	0	0	0	0	0	0	0	1	14396	854	30	2		2	SIGLEC12	19	52000215	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	1082090	52000215	7128768	119	94093											
ZNF813	126017	broad.mit.edu	37	chr19	53995003	53995003	+	Frame_Shift_Del	DEL	G	G	-																															atgtggcaagggttttaatcGgaaaacacaccttgcatgtc																										TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:53995003delG	ENST00000396403.4	+	4	1645	c.1517delG	c.(1516-1518)cgfs	p.R506fs	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGTTTTAATCGGAAAACACAC	0.403													16	105	---	---	---	---					-	53995003	G	-	53995003	7	5	488	1	0	1	0	1	0	0	0	0	18268	1116	39	0	1527	0	ZNF813	19	53995003	Frame_Shift_Del	DEL	G	TCGA-TN-A7HJ-01A-12D-A34J-08	1994788	53995003	5133980	120	94094											
LAIR1	3903	broad.mit.edu	37	chr19	54868206	54868206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatacagatgctcagctttCaggccttgggaagcaggtgc	10	10	12	9	0	2	1	2	0	0	1	2	2	2	2	1	3	5	3	1	3	3	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:54868206C>T	ENST00000391743.3	-	5	703	c.423G>A	c.(421-423)ctG>ctA	p.L141L	LAIR1_ENST00000391742.2_Silent_p.L159L|LAIR1_ENST00000434277.2_Silent_p.L158L|LAIR1_ENST00000348231.4_Silent_p.L142L|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Silent_p.L141L|LAIR1_ENST00000313038.6_Silent_p.L152L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	159						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GCTCAGCTTTCAGGCCTTGGG	0.493													12	116					0	0	0	0	T	54868206	C	T	54868206	2	4	488	1	0	0	0	0	0	0	0	1	8655	813	29	2		2	LAIR1	19	54868206	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	873203	54868206	4260777	121	94095											
ZNF606	80095	broad.mit.edu	37	chr19	58489968	58489968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccggtgtgcaatgaggtGagaactacagttaaaggatc	12	10	12	7	1	1	2	0	2	1	1	3	4	1	3	1	3	3	2	1	3	5	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:58489968G>A	ENST00000341164.4	-	7	2700	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.H604Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H694N(2)|p.H694Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		GCAATGAGGTGAGAACTACAG	0.418													7	131					0	0	0	0	A	58489968	G	A	58489968	3	1	488	1	0	0	0	0	1	0	0	0	18127	1290	45	2	302	2	ZNF606	19	58489968	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	3621762	58489968	639015	122	94096			1	154		3	3	518	G		2.646625e-06
ZNF606	80095	broad.mit.edu	37	chr19	58490065	58490065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaggtgacagctctgactGaaggattttccacatttatt	12	13	8	8	0	1	3	0	3	1	0	2	4	2	4	1	2	1	1	1	2	3	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:58490065G>A	ENST00000341164.4	-	7	2603	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	ZNF606_ENST00000536132.1_Silent_p.F571F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		AGCTCTGACTGAAGGATTTTC	0.408													16	123					0	0	0	0	A	58490065	G	A	58490065	2	1	488	1	0	0	0	0	0	0	0	1	18127	1281	45	2		2	ZNF606	19	58490065	Silent	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	97	58490065	638918	123	94097			1	154		3	3	518	G		2.646625e-06
ZNF606	80095	broad.mit.edu	37	chr19	58490485	58490485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataagatgggagctccagctGaatgatttcccacattcagt	12	11	9	9	0	1	3	1	2	0	1	3	4	3	4	2	1	2	2	2	1	2	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:58490485G>C	ENST00000341164.4	-	7	2183	c.1563C>G	c.(1561-1563)ttC>ttG	p.F521L	ZNF606_ENST00000536132.1_Missense_Mutation_p.F431L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		AGCTCCAGCTGAATGATTTCC	0.413													8	100					0	0	0	0	C	58490485	G	C	58490485	3	2	488	1	0	0	0	0	1	0	0	0	18127	1281	45	2	819	2	ZNF606	19	58490485	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	420	58490485	638498	124	94098			1	154		3	3	518	G		2.646625e-06
MAVS	57506	broad.mit.edu	37	chr20	3838456	3838456	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaccagagctaccagcctCgtgagcgtcctgcccttgcc	6	9	9	17	2	1	2	0	1	1	1	3	2	2	2	6	0	7	1	6	0	2	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:3838456C>T	ENST00000428216.2	+	3	420	c.292_splice	c.e3+1	p.R98_splice	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Splice_Site_p.Q98_splice	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	98					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTACCAGCCTCGTGAGCGTCC	0.622													16	93					0	0	0	0	T	3838456	C	T	3838456	5	4	488	1	0	0	0	0	0	0	1	0	9407	898	31	1	298	1	MAVS	20	3838456	Splice_Site	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		3838456	59187064	125	94099											
PLCB4	5332	broad.mit.edu	37	chr20	9424842	9424842	+	Frame_Shift_Del	DEL	A	A	-																															aaggcttacttgaagcatttAaagaaacagcagaaggagct																										TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:9424842delA	ENST00000378501.2	+	28	2811	c.2796delA	c.(2794-2796)ttfs	p.L932fs	PLCB4_ENST00000378493.1_Frame_Shift_Del_p.L932fs|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Frame_Shift_Del_p.L944fs|PLCB4_ENST00000334005.3_Frame_Shift_Del_p.L932fs|PLCB4_ENST00000278655.4_Frame_Shift_Del_p.L932fs|PLCB4_ENST00000378473.3_Frame_Shift_Del_p.L944fs	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	932					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						TGAAGCATTTAAAGAAACAGC	0.308													35	215	---	---	---	---					-	9424842	A	-	9424842	7	5	488	1	0	1	0	1	0	0	0	0	12102	359	13	0	2946	0	PLCB4	20	9424842	Frame_Shift_Del	DEL	A	TCGA-TN-A7HJ-01A-12D-A34J-08	5586386	9424842	53600678	126	94100											
PCSK2	5126	broad.mit.edu	37	chr20	17434461	17434461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgacgactgcaactgcgaCggctacgcctccagcatgtg	9	8	11	13	4	0	1	0	1	0	0	1	3	1	1	2	1	5	3	2	1	3	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:17434461C>T	ENST00000262545.2	+	9	1275	c.960C>T	c.(958-960)gaC>gaT	p.D320D	PCSK2_ENST00000536609.1_Silent_p.D285D|PCSK2_ENST00000377899.1_Silent_p.D301D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	320	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D320D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAACTGCGACGGCTACGCCT	0.647													13	89					0	0	0	0	T	17434461	C	T	17434461	2	4	488	1	0	0	0	0	0	0	0	1	11672	535	19	1		1	PCSK2	20	17434461	Silent	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	8009619	17434461	45591059	127	94101											
DEFB118	117285	broad.mit.edu	37	chr20	29960947	29960947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggggaactgagacctctCttccaaatgttcaccatagc	12	9	9	11	0	2	1	1	1	1	1	4	4	3	2	3	2	2	1	3	2	4	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:29960947C>G	ENST00000253381.2	+	2	379	c.346C>G	c.(346-348)Ctt>Gtt	p.L116V		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	116					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		p.L116I(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGAGACCTCTCTTCCAAATGT	0.433													8	67					0	0	0	0	G	29960947	C	G	29960947	3	3	488	1	0	0	0	0	1	0	0	0	4442	913	32	2	352	2	DEFB118	20	29960947	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	12526486	29960947	33064573	128	94102											
PPP1R16B	26051	broad.mit.edu	37	chr20	37547206	37547206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacagcagcaatgggacctCggtatattacacggtcacca	12	8	10	11	2	1	0	1	0	0	0	2	1	1	1	2	3	4	4	2	3	5	4			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:37547206C>T	ENST00000299824.1	+	11	1790	c.1601C>T	c.(1600-1602)tCg>tTg	p.S534L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.S492L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	534					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AATGGGACCTCGGTATATTAC	0.582													9	57					0	0	0	0	T	37547206	C	T	37547206	3	4	488	1	0	0	0	0	1	0	0	0	12442	893	31	1	1639	1	PPP1R16B	20	37547206	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	7586259	37547206	25478314	129	94103											
IFT52	51098	broad.mit.edu	37	chr20	42264628	42264628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagcctcagtttgagaCgccgctgccaacccttcagc	8	8	8	17	2	2	1	2	1	0	1	3	2	3	1	5	0	4	2	5	0	1	2	rs140986312		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:42264628C>T	ENST00000373030.3	+	11	1116	c.986C>T	c.(985-987)aCg>aTg	p.T329M	IFT52_ENST00000373039.4_Missense_Mutation_p.T329M	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	329						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGTTTGAGACGCCGCTGCCA	0.527													4	70					0	0	0	0	T	42264628	C	T	42264628	3	4	488	1	0	0	0	0	1	0	0	0	7614	536	19	1	1024	1	IFT52	20	42264628	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	4717422	42264628	20760892	130	94104											
ACOT8	10005	broad.mit.edu	37	chr20	44473041	44473041	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagcgccaatgggtacctCttttggaggttagggtccct	6	13	13	9	1	1	1	0	1	1	0	2	2	2	2	3	4	2	2	3	4	3	5			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:44473041C>G	ENST00000217455.4	-	4	597	c.507G>C	c.(505-507)aaG>aaC	p.K169N		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	169					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				ATGGGTACCTCTTTTGGAGGT	0.557													8	74					0	0	0	0	G	44473041	C	G	44473041	3	3	488	1	0	0	0	0	1	0	0	0	156	912	32	2	464	2	ACOT8	20	44473041	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	2208413	44473041	18552479	131	94105											
ZNF217	7764	broad.mit.edu	37	chr20	52188372	52188372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgctgttagataagtgttGatatgacacaggcctttttc	10	15	9	7	0	0	3	0	2	0	1	1	3	0	3	1	1	1	3	1	1	3	6			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:52188372G>C	ENST00000371471.2	-	5	3483	c.3058C>G	c.(3058-3060)Caa>Gaa	p.Q1020E	ZNF217_ENST00000302342.3_Missense_Mutation_p.Q1020E|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	1020					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GATAAGTGTTGATATGACACA	0.299													19	125					0	0	0	0	C	52188372	G	C	52188372	3	2	488	1	0	0	0	0	1	0	0	0	17867	1299	45	2	92	2	ZNF217	20	52188372	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	7715331	52188372	10837148	132	94106											
GRIK1	2897	broad.mit.edu	37	chr21	31045417	31045417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttattcccagagggcagCtggcggattttgattttaat	8	16	10	7	1	1	2	0	1	1	1	2	3	2	3	1	3	1	2	1	3	2	7			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr21:31045417C>A	ENST00000399914.1	-	4	1133	c.612G>T	c.(610-612)caG>caT	p.Q204H	GRIK1_ENST00000309434.7_Missense_Mutation_p.Q204H|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q204H|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q204H|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q204H|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q204H			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	204					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAGAGGGCAGCTGGCGGATTT	0.413													26	138					3.7963e-18	4.22339e-18	1	0	A	31045417	C	A	31045417	3	1	488	1	0	0	0	0	1	0	0	0	6823	796	28	4	2360	4	GRIK1	21	31045417	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		31045417	17084478	133	94107											
RHBDD3	25807	broad.mit.edu	37	chr22	29656760	29656760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaggagcctcaggggcCagcaccccgccaaggtcctg	8	4	14	15	1	1	0	1	0	0	0	2	1	2	1	6	5	2	2	6	5	2	0			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr22:29656760C>A	ENST00000216085.7	-	5	1050	c.626G>T	c.(625-627)tGg>tTg	p.W209L		NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	209						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						CCTCAGGGGCCAGCACCCCGC	0.687													3	6					1	1	1	0	A	29656760	C	A	29656760	3	1	488	1	0	0	0	0	1	0	0	0	13401	595	21	4	546	4	RHBDD3	22	29656760	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08		29656760	21647806	134	94108											
RAC2	5880	broad.mit.edu	37	chr22	37637645	37637645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acacggtggggatgtactctCcgggaaaggcgttggtggtg	7	9	18	7	3	1	0	0	0	1	0	2	2	1	2	1	7	1	2	1	7	2	2			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr22:37637645C>T	ENST00000249071.6	-	2	210	c.89G>A	c.(88-90)gGa>gAa	p.G30E	RAC2_ENST00000401529.3_Missense_Mutation_p.G30E|RAC2_ENST00000405484.1_Missense_Mutation_p.G23E|RAC2_ENST00000406508.1_5'UTR	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	30					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GATGTACTCTCCGGGAAAGGC	0.617													14	127					0	0	0	0	T	37637645	C	T	37637645	3	4	488	1	0	0	0	0	1	0	0	0	13057	855	30	2	509	2	RAC2	22	37637645	Missense_Mutation	SNP	C	TCGA-TN-A7HJ-01A-12D-A34J-08	7980885	37637645	13666921	135	94109											
MOSPD2	158747	broad.mit.edu	37	chrX	14927078	14927078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggactatgtcagtgtagAatacctgcctccccacatgg	10	9	9	13	0	1	1	1	0	0	1	2	2	2	2	5	2	2	1	5	2	4	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chrX:14927078A>G	ENST00000380492.3	+	8	762	c.674A>G	c.(673-675)gAa>gGa	p.E225G	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E225G	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	225	CRAL-TRIO.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GTCAGTGTAGAATACCTGCCT	0.408													47	48					0	0	0	0	G	14927078	A	G	14927078	3	3	488	1	0	0	0	0	1	0	0	0	9786	246	9	5	704	5	MOSPD2	23	14927078	Missense_Mutation	SNP	A	TCGA-TN-A7HJ-01A-12D-A34J-08		14927078	140343482	136	94110											
PLXNB3	5365	broad.mit.edu	37	chrX	153036810	153036810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccagtgcccatctacGtcacccagggtgaagcccag	9	6	10	16	1	2	1	1	1	1	0	3	1	3	1	4	1	4	1	4	1	2	1			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chrX:153036810G>A	ENST00000538966.1	+	14	2639	c.2368G>A	c.(2368-2370)Gtc>Atc	p.V790I	PLXNB3_ENST00000361971.5_Missense_Mutation_p.V767I|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V377I|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V420I|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	767					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCATCTACGTCACCCAGGG	0.637													36	22					0	0	0	0	A	153036810	G	A	153036810	3	1	488	1	0	0	0	0	1	0	0	0	12197	1145	40	1	2463	1	PLXNB3	23	153036810	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	138109732	153036810	2233750	137	94111											
GDI1	2664	broad.mit.edu	37	chrX	153670499	153670499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctatgcacacaacgtggcgGcccagggcaagtacatagct	11	6	11	13	2	0	0	0	0	0	0	0	0	0	0	2	3	4	4	2	3	5	3			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chrX:153670499G>T	ENST00000447750.2	+	9	1368	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	345					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACGTGGCGGCCCAGGGCAA	0.587													99	48					6.00224e-42	6.76201e-42	1	0	T	153670499	G	T	153670499	3	4	488	1	0	0	0	0	1	0	0	0	6371	1203	42	4	1067	4	GDI1	23	153670499	Missense_Mutation	SNP	G	TCGA-TN-A7HJ-01A-12D-A34J-08	633689	153670499	1600061	138	94112											
ISG15	9636	broad.mit.edu	37	chr1	949534	949534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggcgctgcaggacagggtCccccttgccagccagggcct	5	6	15	15	1	0	0	0	0	0	0	1	1	1	1	5	4	3	2	5	4	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:949534C>T	ENST00000379389.4	+	2	325	c.174C>T	c.(172-174)gtC>gtT	p.V58V		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	58	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGGACAGGGTCCCCCTTGCCA	0.652													14	36					0	0	0	0	T	949534	C	T	949534	2	4	489	1	0	0	0	0	0	0	0	1	7906	842	30	2		2	ISG15	1	949534	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		949534	248301087	1	94113											
CCDC27	148870	broad.mit.edu	37	chr1	3683959	3683959	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcaagaaggagatgattCagcaggcagagcagcacacc	16	3	13	9	0	1	5	1	1	0	4	1	6	1	5	1	2	4	5	1	2	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:3683959C>T	ENST00000294600.2	+	10	1777	c.1693C>T	c.(1693-1695)Cag>Tag	p.Q565*		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	565										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGATGATTCAGCAGGCAGA	0.627													5	30					0	0	0	0	T	3683959	C	T	3683959	4	4	489	1	0	0	0	0	0	1	0	0	2827	827	29	2	1731	2	CCDC27	1	3683959	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2734425	3683959	245566662	2	94114											
CHD5	26038	broad.mit.edu	37	chr1	6214862	6214862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccgcggagctgcccttGaaggggttgttggcgctgaa	5	9	17	10	3	0	2	0	2	0	0	0	3	0	3	2	4	3	5	2	4	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:6214862G>C	ENST00000262450.3	-	5	702	c.603C>G	c.(601-603)ttC>ttG	p.F201L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	201					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCTGCCCTTGAAGGGGTTGT	0.657													15	52					0	0	0	0	C	6214862	G	C	6214862	3	2	489	1	0	0	0	0	1	0	0	0	3357	1281	45	2	5409	2	CHD5	1	6214862	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2530903	6214862	243035759	3	94115											
CAMTA1	23261	broad.mit.edu	37	chr1	7796589	7796589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaccctaatccagaccctCatcaaatggcggtaaggctg	11	7	9	14	1	2	1	2	0	0	1	3	1	3	1	4	3	0	2	4	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:7796589C>T	ENST00000303635.7	+	13	3459	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	CAMTA1_ENST00000439411.2_Silent_p.L1084L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1084					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCAGACCCTCATCAAATGGC	0.582			T	WWTR1	epitheliod hemangioendothelioma								19	63					0	0	0	0	T	7796589	C	T	7796589	2	4	489	1	0	0	0	0	0	0	0	1	2638	813	29	2		2	CAMTA1	1	7796589	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1581727	7796589	241454032	4	94116											
LZIC	84328	broad.mit.edu	37	chr1	9992908	9992908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtatctccactttctgttGagtgtacaggtctctttcca	7	17	7	10	0	3	1	0	1	3	0	6	1	4	1	2	1	1	3	2	1	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:9992908G>C	ENST00000377223.1	-	6	632	c.385C>G	c.(385-387)Caa>Gaa	p.Q129E	LZIC_ENST00000400903.2_Missense_Mutation_p.Q129E|LZIC_ENST00000541052.1_Missense_Mutation_p.Q150E|LZIC_ENST00000377213.1_Missense_Mutation_p.Q129E			Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	129							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTTCTGTTGAGTGTACAGG	0.343													24	64					0	0	0	0	C	9992908	G	C	9992908	3	2	489	1	0	0	0	0	1	0	0	0	9200	1299	45	2	199	2	LZIC	1	9992908	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2196319	9992908	239257713	5	94117											
NMNAT1	64802	broad.mit.edu	37	chr1	10041193	10041193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggactgaaacacaagattCtagtcaaaagaaatccctag	17	8	8	8	0	2	3	1	1	1	2	3	4	3	4	1	1	1	0	1	1	7	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:10041193C>G	ENST00000377205.1	+	4	548	c.404C>G	c.(403-405)tCt>tGt	p.S135C	NMNAT1_ENST00000403197.1_Missense_Mutation_p.S135C	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	135					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ACACAAGATTCTAGTCAAAAG	0.438													29	65					0	0	0	0	G	10041193	C	G	10041193	3	3	489	1	0	0	0	0	1	0	0	0	10568	913	32	2	414	2	NMNAT1	1	10041193	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	48285	10041193	239209428	6	94118											
EXOSC10	5394	broad.mit.edu	37	chr1	11133993	11133993	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgacaagtccacttacttCatagattttggttgatggat	10	15	10	6	0	1	3	1	2	0	1	2	4	2	4	1	3	1	1	1	3	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:11133993C>G	ENST00000376936.4	-	19	2204	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Intron	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	719					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCACTTACTTCATAGATTTTG	0.458													12	29					0	0	0	0	G	11133993	C	G	11133993	3	3	489	1	0	0	0	0	1	0	0	0	5351	835	29	2	530	2	EXOSC10	1	11133993	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1092800	11133993	238116628	7	94119											
MTOR	2475	broad.mit.edu	37	chr1	11288856	11288856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggacaaccatggtgtgatGatgagagagtgactggtctc	10	10	14	7	0	1	5	0	4	1	1	2	7	1	6	1	3	1	0	1	3	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:11288856G>A	ENST00000361445.4	-	19	2975	c.2899C>T	c.(2899-2901)Cat>Tat	p.H967Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	967					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATGGTGTGATGATGAGAGAGT	0.532													24	47					0	0	0	0	A	11288856	G	A	11288856	3	1	489	1	0	0	0	0	1	0	0	0	10024	1290	45	2	4910	2	MTOR	1	11288856	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	154863	11288856	237961765	8	94120											
VPS13D	55187	broad.mit.edu	37	chr1	12381972	12381972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcttatcaaaatagttCaggattgatggatgcattca	12	16	7	6	0	5	1	3	1	2	0	5	3	5	3	0	2	1	2	0	2	4	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:12381972C>T	ENST00000358136.3	+	33	7785	c.7655C>T	c.(7654-7656)tCa>tTa	p.S2552L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2552L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2552					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAAATAGTTCAGGATTGATG	0.413													27	105					0	0	0	0	T	12381972	C	T	12381972	3	4	489	1	0	0	0	0	1	0	0	0	17288	838	29	2	7781	2	VPS13D	1	12381972	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1093116	12381972	236868649	9	94121											
SPEN	23013	broad.mit.edu	37	chr1	16259289	16259289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaagctcgctgaggcctCtgcctctgctgcctataagg	7	9	11	14	2	2	1	0	1	2	0	3	1	2	1	3	2	4	4	3	2	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16259289C>A	ENST00000375759.3	+	11	6758	c.6554C>A	c.(6553-6555)tCt>tAt	p.S2185Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2185	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGAGGCCTCTGCCTCTGCT	0.622													24	77					2.89027e-11	3.03893e-11	1	0	A	16259289	C	A	16259289	3	1	489	1	0	0	0	0	1	0	0	0	15128	913	32	2	6596	2	SPEN	1	16259289	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3877317	16259289	232991332	10	94122			1	155		4	4	953	C		1.694282e-06
SPEN	23013	broad.mit.edu	37	chr1	16260136	16260136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacccagcgatccaagcatCcccatacccacactgccttc	10	6	4	21	1	0	0	0	0	0	0	3	1	2	0	7	0	4	1	7	0	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260136C>T	ENST00000375759.3	+	11	7605	c.7401C>T	c.(7399-7401)atC>atT	p.I2467I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2467	Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCCAAGCATCCCCATACCCA	0.597													13	71					0	0	0	0	T	16260136	C	T	16260136	2	4	489	1	0	0	0	0	0	0	0	1	15128	845	30	2		2	SPEN	1	16260136	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	847	16260136	232990485	11	94123			1	155		4	4	953	C		1.694282e-06
SPEN	23013	broad.mit.edu	37	chr1	16260202	16260202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgtcgcctctggggggatCccacaccagagcccccctac	6	6	10	19	1	1	1	0	0	1	1	3	2	2	2	7	3	2	0	7	3	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260202C>G	ENST00000375759.3	+	11	7671	c.7467C>G	c.(7465-7467)atC>atG	p.I2489M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2489	Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGGGGGATCCCACACCAGA	0.602													30	99					0	0	0	0	G	16260202	C	G	16260202	3	3	489	1	0	0	0	0	1	0	0	0	15128	845	30	2	7509	2	SPEN	1	16260202	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	66	16260202	232990419	12	94124			1	155		4	4	953	C		1.694282e-06
SPEN	23013	broad.mit.edu	37	chr1	16260241	16260241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actaaggtgacagagtggatCacaaggcaggaggagccacg	14	4	15	8	1	1	2	1	1	0	1	1	5	1	5	1	5	1	1	1	5	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260241C>G	ENST00000375759.3	+	11	7710	c.7506C>G	c.(7504-7506)atC>atG	p.I2502M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2502	Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGAGTGGATCACAAGGCAGG	0.587													45	127					0	0	0	0	G	16260241	C	G	16260241	3	3	489	1	0	0	0	0	1	0	0	0	15128	816	29	2	7548	2	SPEN	1	16260241	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	39	16260241	232990380	13	94125			1	155		4	4	953	C		1.694282e-06
CLCNKB	1188	broad.mit.edu	37	chr1	16378708	16378708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggggctgcagccttctCaggggctgtgacccacacca	7	7	13	14	0	1	1	1	1	1	0	2	1	1	1	3	4	3	4	3	4	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16378708C>T	ENST00000375679.4	+	15	1535	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	CLCNKB_ENST00000375667.3_Missense_Mutation_p.S306L	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCCTTCTCAGGGGCTGTG	0.682													10	62					0	0	0	0	T	16378708	C	T	16378708	3	4	489	1	0	0	0	0	1	0	0	0	3500	838	29	2	1626	2	CLCNKB	1	16378708	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	118467	16378708	232871913	14	94126											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534240	16534240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacccggtccccgctcatctCtacacttcgagcctccattc	6	10	5	20	3	2	0	1	0	1	0	7	1	4	0	5	1	2	1	5	1	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16534240C>G	ENST00000270747.3	-	4	863	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.E243Q	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	243					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCTCATCTCTACACTTCGA	0.677													11	55					0	0	0	0	G	16534240	C	G	16534240	3	3	489	1	0	0	0	0	1	0	0	0	904	922	32	2	1733	2	ARHGEF19	1	16534240	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	155532	16534240	232716381	15	94127											
SDHB	6390	broad.mit.edu	37	chr1	17371298	17371298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctgcatatgaggtttgtctCcagccttgtctgggtcccat	5	15	10	11	0	3	1	0	1	3	0	5	1	4	1	3	2	2	2	3	2	1	3	rs34916635	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:17371298C>G	ENST00000375499.3	-	2	308	c.158G>C	c.(157-159)gGa>gCa	p.G53A	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	53	2Fe-2S ferredoxin-type.		G -> R (in pheochromocytoma).		respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	AGGTTTGTCTCCAGCCTTGTC	0.453			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				12	75					0	0	0	0	G	17371298	C	G	17371298	3	3	489	1	0	0	0	0	1	0	0	0	14052	855	30	2	712	2	SDHB	1	17371298	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	837058	17371298	231879323	16	94128											
DDOST	1650	broad.mit.edu	37	chr1	20982228	20982228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagccgttttctcctcgtCaaactcaatcccgcactcac	9	10	5	17	3	4	0	3	0	1	0	7	1	5	0	3	0	2	2	3	0	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:20982228C>T	ENST00000375048.3	-	4	553	c.448G>A	c.(448-450)Gac>Aac	p.D150N	DDOST_ENST00000415136.2_Missense_Mutation_p.D113N|DDOST_ENST00000602624.2_Missense_Mutation_p.D133N	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	150					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTCCTCGTCAAACTCAATC	0.557													39	109					0	0	0	0	T	20982228	C	T	20982228	3	4	489	1	0	0	0	0	1	0	0	0	4367	826	29	2	954	2	DDOST	1	20982228	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3610930	20982228	228268393	17	94129											
KIF17	57576	broad.mit.edu	37	chr1	21042076	21042076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctgcatggtgaaggacttCccgctgcctgtctggccgta	5	10	12	14	2	1	1	0	1	1	0	2	2	2	2	4	3	2	3	4	3	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:21042076C>T	ENST00000247986.2	-	2	598	c.288G>A	c.(286-288)ggG>ggA	p.G96G	KIF17_ENST00000400463.3_Silent_p.G96G|KIF17_ENST00000375044.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	96	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGAAGGACTTCCCGCTGCCTG	0.647													10	62					0	0	0	0	T	21042076	C	T	21042076	2	4	489	1	0	0	0	0	0	0	0	1	8330	842	30	2		2	KIF17	1	21042076	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	59848	21042076	228208545	18	94130											
SFN	2810	broad.mit.edu	37	chr1	27190297	27190297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctggccaagaccactttCgacgaggccatggctgatct	8	10	10	13	2	2	2	0	1	2	1	4	4	2	2	3	3	0	1	3	3	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:27190297C>T	ENST00000339276.4	+	1	665	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	198					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGACCACTTTCGACGAGGCCA	0.602													22	76					0	0	0	0	T	27190297	C	T	27190297	2	4	489	1	0	0	0	0	0	0	0	1	14246	883	31	1		1	SFN	1	27190297	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6148221	27190297	222060324	19	94131											
SYTL1	84958	broad.mit.edu	37	chr1	27676949	27676949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggtgaagaaacggaatctGaatccggttttcaacgagac	13	8	12	8	4	2	4	1	2	1	2	3	6	3	5	1	3	2	1	1	3	5	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:27676949G>A	ENST00000543823.1	+	9	1440	c.978G>A	c.(976-978)ctG>ctA	p.L326L	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.L314L			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	326	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AACGGAATCTGAATCCGGTTT	0.592													14	46					0	0	0	0	A	27676949	G	A	27676949	2	1	489	1	0	0	0	0	0	0	0	1	15573	1277	45	2		2	SYTL1	1	27676949	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	486652	27676949	221573672	20	94132											
PTPRU	10076	broad.mit.edu	37	chr1	29638032	29638032	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagcactgttccagcatCgtcatgatcaccaagctggt	10	9	10	12	1	2	1	2	1	0	0	4	2	3	2	2	2	3	4	2	2	1	1	rs140673849	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:29638032C>T	ENST00000356870.3	+	21	3050	c.2940C>T	c.(2938-2940)atC>atT	p.I980I	PTPRU_ENST00000428026.2_Silent_p.I974I|PTPRU_ENST00000323874.8_Silent_p.I980I|PTPRU_ENST00000460170.2_Silent_p.I980I|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.I984I|PTPRU_ENST00000373779.3_Silent_p.I974I	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	984	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTTCCAGCATCGTCATGATCA	0.637													15	61					0	0	0	0	T	29638032	C	T	29638032	2	4	489	1	0	0	0	0	0	0	0	1	12895	874	31	1		1	PTPRU	1	29638032	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1961083	29638032	219612589	21	94133											
CSMD2	114784	broad.mit.edu	37	chr1	34088974	34088974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaacccagcttacctgaGaaactccccagcatggttac	12	8	8	13	0	0	1	0	1	0	1	1	3	1	2	4	2	6	3	4	2	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:34088974G>C	ENST00000373381.4	-	36	5894	c.5718C>G	c.(5716-5718)ttC>ttG	p.F1906L	CSMD2_ENST00000373380.1_Missense_Mutation_p.F779L|CSMD2_ENST00000373388.2_Missense_Mutation_p.F5L|CSMD2_ENST00000373377.1_Missense_Mutation_p.F5L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1866						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTTACCTGAGAAACTCCCCA	0.423													33	94					0	0	0	0	C	34088974	G	C	34088974	3	2	489	1	0	0	0	0	1	0	0	0	3977	933	33	2	5001	2	CSMD2	1	34088974	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4450942	34088974	215161647	22	94134											
INPP5B	3633	broad.mit.edu	37	chr1	38331545	38331545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcagggcttcggctacaGaatgattgctggcagctttt	8	11	13	9	1	0	2	0	1	0	1	1	2	0	2	0	3	4	7	0	3	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:38331545G>A	ENST00000373023.2	-	22	2735	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	INPP5B_ENST00000373027.1_Missense_Mutation_p.S637F|INPP5B_ENST00000373026.1_Missense_Mutation_p.S881F|INPP5B_ENST00000373024.3_Missense_Mutation_p.S801F	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	881	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCGGCTACAGAATGATTGCT	0.512													6	57					0	0	0	0	A	38331545	G	A	38331545	3	1	489	1	0	0	0	0	1	0	0	0	7808	942	33	2	351	2	INPP5B	1	38331545	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4242571	38331545	210919076	23	94135											
SF3A3	10946	broad.mit.edu	37	chr1	38453301	38453301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgagtctattatagaattCagcaaactcattgggtcctg	11	14	8	8	0	3	2	2	1	1	1	4	2	4	2	1	1	2	1	1	1	5	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:38453301C>T	ENST00000373019.4	-	4	1202	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Intron	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	83					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTATAGAATTCAGCAAACTCA	0.398													26	106					0	0	0	0	T	38453301	C	T	38453301	3	4	489	1	0	0	0	0	1	0	0	0	14235	835	29	2	1314	2	SF3A3	1	38453301	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	121756	38453301	210797320	24	94136											
MACF1	23499	broad.mit.edu	37	chr1	39800377	39800377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagactgacattggcatCagctttggaagagaaactgg	16	8	11	6	0	1	3	1	1	0	2	1	5	1	4	0	3	2	2	0	3	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:39800377C>T	ENST00000564288.1	+	37	8894	c.8117C>T	c.(8116-8118)tCa>tTa	p.S2706L	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2743L|MACF1_ENST00000289893.4_Missense_Mutation_p.S1146L|MACF1_ENST00000372915.3_Missense_Mutation_p.S2711L|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2711					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATTGGCATCAGCTTTGGAA	0.403													23	46					0	0	0	0	T	39800377	C	T	39800377	3	4	489	1	0	0	0	0	1	0	0	0	9209	838	29	2	8208	2	MACF1	1	39800377	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1347076	39800377	209450244	25	94137											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40723960	40723960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccatggggatgtgggcatCgctggacgctttgtgggaga	6	9	19	7	2	0	1	0	0	0	1	1	4	0	3	1	6	0	3	1	6	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:40723960C>T	ENST00000372759.3	+	1	182	c.17C>T	c.(16-18)tCg>tTg	p.S6L	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	6						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	p.S6W(1)|p.S6L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGTGGGCATCGCTGGACGCT	0.632													26	89					0	0	0	0	T	40723960	C	T	40723960	3	4	489	1	0	0	0	0	1	0	0	0	17793	893	31	1	19	1	ZMPSTE24	1	40723960	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	923583	40723960	208526661	26	94138											
SLFNL1	200172	broad.mit.edu	37	chr1	41486213	41486213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgccgagggagcctcctcGaggtcagagtactccgtcag	7	7	14	13	4	2	1	2	0	0	1	5	4	4	2	4	2	3	1	4	2	1	1	rs146820397	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:41486213G>A	ENST00000359345.1	-	1	2696	c.120C>T	c.(118-120)ctC>ctT	p.L40L	SLFNL1_ENST00000372611.1_Silent_p.L40L|SLFNL1_ENST00000372613.2_Silent_p.L40L|SLFNL1_ENST00000439569.2_Silent_p.L40L|SLFNL1_ENST00000302946.8_Silent_p.L40L|SLFNL1_ENST00000397197.2_Silent_p.L40L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	40							ATP binding	p.L40L(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCCTCCTCGAGGTCAGAGT	0.637													18	49					0	0	0	0	A	41486213	G	A	41486213	2	1	489	1	0	0	0	0	0	0	0	1	14826	1045	37	1		1	SLFNL1	1	41486213	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	762253	41486213	207764408	27	94139											
ZMYND12	84217	broad.mit.edu	37	chr1	42914180	42914180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtaagcaggcacaagctCtacggagctcaggccataca	13	5	11	12	1	2	0	1	0	1	0	2	1	2	1	1	4	5	5	1	4	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:42914180C>G	ENST00000372565.3	-	3	651	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	128						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCACAAGCTCTACGGAGCTC	0.527													15	30					0	0	0	0	G	42914180	C	G	42914180	3	3	489	1	0	0	0	0	1	0	0	0	17802	922	32	2	739	2	ZMYND12	1	42914180	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1427967	42914180	206336441	28	94140											
PLK3	1263	broad.mit.edu	37	chr1	45266614	45266614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgccaagccgcatcagcgcGagaaggtgggtccaggctca	9	5	14	13	4	2	1	2	0	0	1	4	2	3	1	3	3	2	2	3	3	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:45266614G>C	ENST00000372201.4	+	2	552	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	105	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCATCAGCGCGAGAAGGTGGG	0.662													7	31					0	0	0	0	C	45266614	G	C	45266614	3	2	489	1	0	0	0	0	1	0	0	0	12169	1059	37	3	319	3	PLK3	1	45266614	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2352434	45266614	203984007	29	94141											
TESK2	10420	broad.mit.edu	37	chr1	45851629	45851629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaacacatacacccatGaacctaaagaacaagacaga	20	5	6	10	0	0	6	0	3	0	3	0	6	0	6	2	0	4	0	2	0	7	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:45851629G>T	ENST00000372086.3	-	4	748	c.348C>A	c.(346-348)ttC>ttA	p.F116L	TESK2_ENST00000372084.1_Missense_Mutation_p.F116L|TESK2_ENST00000538496.1_Missense_Mutation_p.F33L|TESK2_ENST00000486676.1_Intron|TESK2_ENST00000341771.6_Missense_Mutation_p.F116L	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	116	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATACACCCATGAACCTAAAGA	0.338													17	64					1.62849e-17	1.7393e-17	1	0	T	45851629	G	T	45851629	3	4	489	1	0	0	0	0	1	0	0	0	15862	1281	45	2	1399	2	TESK2	1	45851629	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	585015	45851629	203398992	30	94142											
CYP4B1	1580	broad.mit.edu	37	chr1	47283805	47283805	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggcctgtcccttcaggtCtttgactctctgcgcttttc	4	15	8	14	1	3	1	1	1	2	0	6	1	4	1	2	2	1	1	2	2	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:47283805C>G	ENST00000271153.4	+	11	1308	c.1272C>G	c.(1270-1272)gtC>gtG	p.V424V	CYP4B1_ENST00000452782.2_Silent_p.V262V|CYP4B1_ENST00000371919.4_Silent_p.V410V|CYP4B1_ENST00000371923.4_Silent_p.V425V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	424					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCCTTCAGGTCTTTGACTCTC	0.572													19	88					0	0	0	0	G	47283805	C	G	47283805	2	3	489	1	0	0	0	0	0	0	0	1	4217	900	32	2		2	CYP4B1	1	47283805	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1432176	47283805	201966816	31	94143											
CYP4A22	284541	broad.mit.edu	37	chr1	47614436	47614436	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacctgcgtctcaggaggctCcctaacccttgtgaagacaa	10	8	9	14	1	1	2	1	1	1	1	3	3	2	3	3	2	2	1	3	2	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:47614436C>G	ENST00000371891.3	+	12	1558	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.L411L|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	509			L -> F (in allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs4926600).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGGAGGCTCCCTAACCCTT	0.567													16	32					0	0	0	0	G	47614436	C	G	47614436	2	3	489	1	0	0	0	0	0	0	0	1	4216	842	30	2		2	CYP4A22	1	47614436	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	330631	47614436	201636185	32	94144											
CDCP2	200008	broad.mit.edu	37	chr1	54618586	54618586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcaggcaagccccccactCtgccagcatctcctcaccag	9	5	7	20	0	3	0	1	0	2	0	4	0	3	0	6	1	4	3	6	1	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:54618586C>G	ENST00000371330.1	-	1	857	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	RP11-446E24.4_ENST00000525949.1_Intron|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	4						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCCCCCACTCTGCCAGCATC	0.637													17	74					0	0	0	0	G	54618586	C	G	54618586	3	3	489	1	0	0	0	0	1	0	0	0	3123	922	32	2	1355	2	CDCP2	1	54618586	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7004150	54618586	194632035	33	94145											
FAM151A	338094	broad.mit.edu	37	chr1	55075609	55075609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcagcaggatcatgccttCtgtgtctggaagaggcggca	8	10	14	9	1	4	1	2	0	2	1	4	3	4	3	1	4	2	3	1	4	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:55075609C>G	ENST00000302250.2	-	8	1250	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	364						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCATGCCTTCTGTGTCTGGA	0.522													14	35					0	0	0	0	G	55075609	C	G	55075609	3	3	489	1	0	0	0	0	1	0	0	0	5499	922	32	2	671	2	FAM151A	1	55075609	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	457023	55075609	194175012	34	94146											
KANK4	163782	broad.mit.edu	37	chr1	62740699	62740699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccatatggggtctccacaGaataagggtggctcttcgga	10	9	13	9	1	2	1	0	0	2	1	4	2	2	2	2	5	1	1	2	5	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:62740699G>A	ENST00000371153.4	-	3	455	c.77C>T	c.(76-78)tCt>tTt	p.S26F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	26										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTCTCCACAGAATAAGGGTG	0.438													23	81					0	0	0	0	A	62740699	G	A	62740699	3	1	489	1	0	0	0	0	1	0	0	0	8032	942	33	2	2942	2	KANK4	1	62740699	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	7665090	62740699	186509922	35	94147											
SLC35D1	23169	broad.mit.edu	37	chr1	67507963	67507963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaatggccagggtgggcaGaatcatgaacagtgcattgt	11	8	14	8	1	1	2	1	1	0	1	1	2	1	2	1	3	2	3	1	3	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:67507963G>A	ENST00000235345.5	-	8	770	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	SLC35D1_ENST00000506472.2_Silent_p.L150L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	229					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	AGGGTGGGCAGAATCATGAAC	0.398													53	204					0	0	0	0	A	67507963	G	A	67507963	2	1	489	1	0	0	0	0	0	0	0	1	14669	933	33	2		2	SLC35D1	1	67507963	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4767264	67507963	181742658	36	94148											
LRRC7	57554	broad.mit.edu	37	chr1	70587515	70587515	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagctgtattactacTgaagagtttccagaacacag	16	10	8	7	0	0	4	0	2	0	2	1	4	1	4	1	0	4	3	1	0	7	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:70587515T>G	ENST00000310961.5	+	27	4851	c.4433T>G	c.(4432-4434)cTg>cGg	p.L1478R	LRRC7_ENST00000415775.2_Missense_Mutation_p.L804R|LRRC7_ENST00000035383.5_Missense_Mutation_p.L1520R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1520	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTATTACTACTGAAGAGTTTC	0.333													26	96					0	0	0	0	G	70587515	T	G	70587515	3	3	489	1	0	0	0	0	1	0	0	0	9084	1580	55	5	4657	5	LRRC7	1	70587515	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	3079552	70587515	178663106	37	94149											
C1orf173	127254	broad.mit.edu	37	chr1	75038215	75038215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcctctcagctttccttCgctctcttgctaaatctaat	6	17	5	13	1	3	0	1	0	3	0	7	0	4	0	2	1	2	3	2	1	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:75038215C>T	ENST00000326665.5	-	14	3397	c.3179G>A	c.(3178-3180)cGa>cAa	p.R1060Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1060	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCTTTCCTTCGCTCTCTTGC	0.428													31	139					0	0	0	0	T	75038215	C	T	75038215	3	4	489	1	0	0	0	0	1	0	0	0	2033	884	31	1	1417	1	C1orf173	1	75038215	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4450700	75038215	174212406	38	94150											
RABGGTB	5876	broad.mit.edu	37	chr1	76260321	76260321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagtgaatgttcagcctGagctagtgagctagattcat	12	11	12	6	0	2	5	2	3	0	2	2	6	2	5	1	0	3	3	1	0	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:76260321G>A	ENST00000319942.3	+	9	1053	c.982G>A	c.(982-984)Gag>Aag	p.E328K	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Missense_Mutation_p.E154K	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	328					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TGTTCAGCCTGAGCTAGTGAG	0.363													27	104					0	0	0	0	A	76260321	G	A	76260321	3	1	489	1	0	0	0	0	1	0	0	0	13050	1291	45	2	1016	2	RABGGTB	1	76260321	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1222106	76260321	172990300	39	94151											
GBP5	115362	broad.mit.edu	37	chr1	89729433	89729433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatacctgtattcctttccGaggctcccgatagtactttg	7	14	9	11	2	0	0	0	0	0	0	3	3	3	1	4	2	2	3	4	2	4	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:89729433G>A	ENST00000343435.5	-	9	1884	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	GBP5_ENST00000370459.3_Missense_Mutation_p.R450W|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	450						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATTCCTTTCCGAGGCTCCCGA	0.428													31	140					0	0	0	0	A	89729433	G	A	89729433	3	1	489	1	0	0	0	0	1	0	0	0	6326	1057	37	1	428	1	GBP5	1	89729433	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	13469112	89729433	159521188	40	94152											
LRRC8C	84230	broad.mit.edu	37	chr1	90178346	90178346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccctttcgaatgtctctCaagcagttgccagtaccact	8	13	6	14	1	2	0	1	0	1	0	5	1	3	0	3	0	3	3	3	0	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178346C>G	ENST00000370454.4	+	3	472	c.217C>G	c.(217-219)Caa>Gaa	p.Q73E	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	73						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GAATGTCTCTCAAGCAGTTGC	0.463													15	66					0	0	0	0	G	90178346	C	G	90178346	3	3	489	1	0	0	0	0	1	0	0	0	9087	827	29	2	223	2	LRRC8C	1	90178346	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	448913	90178346	159072275	41	94153			2	156	73918105	4	4	2113	C		1.816648e-05
LRRC8C	84230	broad.mit.edu	37	chr1	90178613	90178613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaacatttcatctccattCtggggaagtgttttgactct	9	16	8	8	0	4	2	1	1	3	1	5	3	4	3	1	2	1	1	1	2	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178613C>T	ENST00000370454.4	+	3	739	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	162						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CATCTCCATTCTGGGGAAGTG	0.448													25	102					0	0	0	0	T	90178613	C	T	90178613	2	4	489	1	0	0	0	0	0	0	0	1	9087	912	32	2		2	LRRC8C	1	90178613	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	267	90178613	159072008	42	94154			2	156	73918105	4	4	2113	C		1.816648e-05
LRRC8C	84230	broad.mit.edu	37	chr1	90178873	90178873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgagaaggtgaagaagttCaggctgcatgtggaagaagg	13	9	16	3	0	1	4	1	2	0	3	1	6	1	5	0	4	1	3	0	4	5	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178873C>T	ENST00000370454.4	+	3	999	c.744C>T	c.(742-744)ttC>ttT	p.F248F	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	248						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGAAGAAGTTCAGGCTGCATG	0.403													44	171					0	0	0	0	T	90178873	C	T	90178873	2	4	489	1	0	0	0	0	0	0	0	1	9087	825	29	2		2	LRRC8C	1	90178873	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	260	90178873	159071748	43	94155			2	156	73918105	4	4	2113	C		1.816648e-05
LRRC8C	84230	broad.mit.edu	37	chr1	90180458	90180458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgggtgactgtcgggctCtgaagcgagctggtttagtt	7	12	15	7	2	1	2	0	2	1	0	2	3	1	2	0	3	3	4	0	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90180458C>T	ENST00000370454.4	+	3	2584	c.2329C>T	c.(2329-2331)Ctg>Ttg	p.L777L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	777						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGTCGGGCTCTGAAGCGAGC	0.403													29	67					0	0	0	0	T	90180458	C	T	90180458	2	4	489	1	0	0	0	0	0	0	0	1	9087	912	32	2		2	LRRC8C	1	90180458	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1585	90180458	159070163	44	94156			2	156	73918105	4	4	2113	C		1.816648e-05
ABCA4	24	broad.mit.edu	37	chr1	94506902	94506902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaatgatggcaatgcGgtccccaaggaggtcggcct	8	7	15	11	2	0	1	0	1	0	0	2	2	1	2	3	6	1	2	3	6	3	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:94506902G>T	ENST00000370225.3	-	23	3471	c.3385C>A	c.(3385-3387)Cgc>Agc	p.R1129S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1129	ABC transporter 1.		R -> C (in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine).|R -> L (in ARMD2, STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs1801269).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATGGCAATGCGGTCCCCAAGG	0.582													11	72					1.08611e-07	1.12184e-07	1	0	T	94506902	G	T	94506902	3	4	489	1	0	0	0	0	1	0	0	0	34	1116	39	3	3548	3	ABCA4	1	94506902	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4326444	94506902	154743719	45	94157											
ARHGAP29	9411	broad.mit.edu	37	chr1	94671233	94671233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattccacagaaacattttCaaacgacttacaacatggaa	17	10	5	9	1	1	2	1	1	0	1	2	4	2	3	1	1	4	0	1	1	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:94671233C>T	ENST00000260526.6	-	6	699	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E173K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	173					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAAACATTTTCAAACGACTTA	0.308													25	114					0	0	0	0	T	94671233	C	T	94671233	3	4	489	1	0	0	0	0	1	0	0	0	880	835	29	2	3340	2	ARHGAP29	1	94671233	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	164331	94671233	154579388	46	94158											
ALG14	199857	broad.mit.edu	37	chr1	95538323	95538323	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctcgatacttaccggaCccagccactaccaagatact	11	8	5	17	2	0	1	0	0	0	1	2	3	1	2	6	1	5	0	6	1	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:95538323C>G	ENST00000370205.4	-	1	178	c.132G>C	c.(130-132)ggG>ggC	p.G44G	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	44					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		ACTTACCGGACCCAGCCACTA	0.562													30	102					0	0	0	0	G	95538323	C	G	95538323	2	3	489	1	0	0	0	0	0	0	0	1	516	494	18	4		4	ALG14	1	95538323	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	867090	95538323	153712298	47	94159											
CELSR2	1952	broad.mit.edu	37	chr1	109793608	109793608	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcctcagggagaacctgGaggttggctatgaggtgctc	9	8	16	8	0	1	3	1	1	0	2	2	5	1	4	2	5	3	3	2	5	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109793608G>T	ENST00000271332.3	+	1	968	c.907G>T	c.(907-909)Gag>Tag	p.E303*		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	303	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGAGAACCTGGAGGTTGGCTA	0.582													19	62					5.3912e-06	5.51673e-06	1	0	T	109793608	G	T	109793608	4	4	489	1	0	0	0	0	0	1	0	0	3251	1175	41	2	909	2	CELSR2	1	109793608	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	14255285	109793608	139457013	48	94160											
CELSR2	1952	broad.mit.edu	37	chr1	109812412	109812412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaaccacatgacgagcttCgctgtgctcatggacgtttc	8	11	10	12	3	1	1	1	1	0	0	3	3	1	2	1	1	4	5	1	1	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109812412C>T	ENST00000271332.3	+	22	7138	c.7077C>T	c.(7075-7077)ttC>ttT	p.F2359F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2359	GPS.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.F2359F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGACGAGCTTCGCTGTGCTCA	0.662													54	157					0	0	0	0	T	109812412	C	T	109812412	2	4	489	1	0	0	0	0	0	0	0	1	3251	883	31	1		1	CELSR2	1	109812412	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	18804	109812412	139438209	49	94161											
SORT1	6272	broad.mit.edu	37	chr1	109869745	109869745	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatctgagatgtacacAtctggaaccatcactgagat	13	10	7	11	0	4	2	2	2	2	2	4	5	4	3	2	1	2	1	2	1	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109869745A>G	ENST00000256637.6	-	13	1570	c.1512T>C	c.(1510-1512)gaT>gaC	p.D504D	SORT1_ENST00000538502.1_Silent_p.D367D	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	504					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AGATGTACACATCTGGAACCA	0.473													14	57					0	0	0	0	G	109869745	A	G	109869745	2	3	489	1	0	0	0	0	0	0	0	1	15023	214	8	5		5	SORT1	1	109869745	Silent	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	57333	109869745	139380876	50	94162											
FAM46C	54855	broad.mit.edu	37	chr1	118165963	118165963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggagcctgatctccctctCcaacaagaacgggaagaacg	12	6	10	13	2	2	3	0	1	2	2	4	5	2	5	3	2	4	0	3	2	5	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:118165963C>T	ENST00000369448.3	+	2	720	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	158										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ATCTCCCTCTCCAACAAGAAC	0.493			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			25	99					0	0	0	0	T	118165963	C	T	118165963	3	4	489	1	0	0	0	0	1	0	0	0	5614	855	30	2	475	2	FAM46C	1	118165963	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8296218	118165963	131084658	51	94163											
NOTCH2	4853	broad.mit.edu	37	chr1	120479962	120479962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccgtgctggcaggggttGgacgcacactcatcgagttg	6	8	15	12	3	1	0	1	0	0	0	2	2	1	1	2	4	1	5	2	4	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:120479962G>A	ENST00000256646.2	-	21	3684	c.3465C>T	c.(3463-3465)tcC>tcT	p.S1155S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1155	EGF-like 30; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAGGGGTTGGACGCACACT	0.562			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				23	84					0	0	0	0	A	120479962	G	A	120479962	2	1	489	1	0	0	0	0	0	0	0	1	10618	1335	47	4		4	NOTCH2	1	120479962	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2313999	120479962	128770659	52	94164											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273251	145273251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgagaagaaccgctgccaGaatggtgggacttgtgtggc	9	9	16	7	1	0	3	0	1	0	3	0	5	0	4	2	3	2	1	2	3	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:145273251G>A	ENST00000369340.3	+	4	549	c.105G>A	c.(103-105)caG>caA	p.Q35Q	RP11-458D21.5_ENST00000468030.1_Silent_p.Q35Q|NOTCH2NL_ENST00000362074.6_Silent_p.Q35Q|NOTCH2NL_ENST00000344859.3_Silent_p.Q35Q			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	35	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCGCTGCCAGAATGGTGGGA	0.532													12	160					0	0	0	0	A	145273251	G	A	145273251	2	1	489	1	0	0	0	0	0	0	0	1	10619	933	33	2		2	NOTCH2NL	1	145273251	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	24793289	145273251	103977370	53	94165											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859143	149859143	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcctggatattgggcaaGacgccgccctgggcaatggt	9	7	14	11	2	0	1	0	0	0	1	0	2	0	2	3	4	1	2	3	4	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:149859143G>C	ENST00000331128.3	-	1	323	c.324C>G	c.(322-324)gtC>gtG	p.V108V		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	108					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TATTGGGCAAGACGCCGCCCT	0.532													15	80					0	0	0	0	C	149859143	G	C	149859143	2	2	489	1	0	0	0	0	0	0	0	1	7227	929	33	2		2	HIST2H2AB	1	149859143	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4585892	149859143	99391478	54	94166											
APH1A	51107	broad.mit.edu	37	chr1	150241120	150241120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgaccaggatgataacgcGaagcgggtccccagccacag	11	4	13	13	4	0	1	0	1	0	0	1	4	1	2	4	2	4	0	4	2	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150241120G>A	ENST00000360244.4	-	1	583	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	APH1A_ENST00000414276.2_Missense_Mutation_p.R31C|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.R31C|C1orf54_ENST00000369102.1_5'UTR	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	31					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAACGCGAAGCGGGTCC	0.647													6	20					0	0	0	0	A	150241120	G	A	150241120	3	1	489	1	0	0	0	0	1	0	0	0	772	1058	37	1	745	1	APH1A	1	150241120	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	381977	150241120	99009501	55	94167											
PRPF3	9129	broad.mit.edu	37	chr1	150305455	150305455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctatctcacagccaaaGactccttcttcctcccaacc	9	12	2	18	0	3	1	1	0	3	1	8	1	6	1	5	0	2	0	5	0	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150305455G>C	ENST00000324862.6	+	6	678	c.513G>C	c.(511-513)aaG>aaC	p.K171N	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K122N|PRPF3_ENST00000543398.1_Missense_Mutation_p.K36N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	171					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CACAGCCAAAGACTCCTTCTT	0.443													4	43					0	0	0	0	C	150305455	G	C	150305455	3	2	489	1	0	0	0	0	1	0	0	0	12645	933	33	2	531	2	PRPF3	1	150305455	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	64335	150305455	98945166	56	94168											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529266	150529266	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacccagcctgtggatgtCtatgtgagcctggggccagg	7	8	14	12	0	1	1	0	1	1	0	1	2	1	2	5	4	2	0	5	4	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150529266C>G	ENST00000271643.4	+	10	1982	c.1746C>G	c.(1744-1746)gtC>gtG	p.V582V	ADAMTSL4_ENST00000369038.2_Silent_p.V582V|ADAMTSL4_ENST00000369039.5_Silent_p.V605V|ADAMTSL4_ENST00000369041.5_Silent_p.V582V|RP11-54A4.2_ENST00000442435.2_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	582					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGTGGATGTCTATGTGAGCC	0.637													37	129					0	0	0	0	G	150529266	C	G	150529266	2	3	489	1	0	0	0	0	0	0	0	1	277	900	32	2		2	ADAMTSL4	1	150529266	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	223811	150529266	98721355	57	94169											
MCL1	4170	broad.mit.edu	37	chr1	150551607	150551607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagccggccgcttcccgaGaggctccggctcgtacccgt	5	6	13	17	6	0	1	0	0	0	1	3	3	2	1	5	3	2	4	5	3	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150551607G>A	ENST00000369026.2	-	1	459	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	MCL1_ENST00000307940.3_Missense_Mutation_p.L134F	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	134	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGCTTCCCGAGAGGCTCCGGC	0.697													24	43					0	0	0	0	A	150551607	G	A	150551607	3	1	489	1	0	0	0	0	1	0	0	0	9453	942	33	2	675	2	MCL1	1	150551607	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	22341	150551607	98699014	58	94170											
PSMD4	5710	broad.mit.edu	37	chr1	151239649	151239649	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcacactgcctgtttgcagGaggaggatgattacgacgtg	9	10	13	9	2	1	1	1	1	0	0	1	5	1	4	1	3	3	2	1	3	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:151239649G>A	ENST00000368884.3	+	10	1044	c.963_splice	c.e10-1	p.E322_splice	PSMD4_ENST00000368881.4_Splice_Site_p.E325_splice	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	322					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|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	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)			CTGTTTGCAGGAGGAGGATGA	0.562													30	105					0	0	0	0	A	151239649	G	A	151239649	5	1	489	1	0	0	0	0	0	0	1	0	12779	1188	41	2	1002	2	PSMD4	1	151239649	Splice_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	688042	151239649	98010972	59	94171											
POGZ	23126	broad.mit.edu	37	chr1	151400332	151400332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaggtccgctggttctttGagagccatgagcagagctgt	7	11	13	10	1	2	3	1	2	1	2	3	4	3	3	2	2	3	4	2	2	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:151400332G>C	ENST00000271715.2	-	7	1359	c.1045C>G	c.(1045-1047)Caa>Gaa	p.Q349E	POGZ_ENST00000531094.1_Missense_Mutation_p.Q287E|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000392723.1_Missense_Mutation_p.Q296E|POGZ_ENST00000368863.2_Missense_Mutation_p.Q254E|POGZ_ENST00000491586.1_Missense_Mutation_p.Q296E|POGZ_ENST00000409503.1_Missense_Mutation_p.Q340E|POGZ_ENST00000361398.3_Missense_Mutation_p.Q296E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	349					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			CTGGTTCTTTGAGAGCCATGA	0.468													12	41					0	0	0	0	C	151400332	G	C	151400332	3	2	489	1	0	0	0	0	1	0	0	0	12258	1299	45	2	3253	2	POGZ	1	151400332	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	160683	151400332	97850289	60	94172											
RPTN	126638	broad.mit.edu	37	chr1	152128637	152128640	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															tgtagtgggaactctggcctTgtctgtctgtctgaccataa																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:152128637_152128640delTGTC	ENST00000316073.3	-	3	999_1002	c.935_938delGACA	c.(934-939)aafs	p.RQ312fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	312	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.515													7	1066	---	---	---	---					-	152128640	TGTC	-	152128637	7	5	489	1	0	1	0	1	0	0	0	0	13749	1812	63	0	1420	0	RPTN	1	152128637	Frame_Shift_Del	DEL	TGTC	TCGA-TN-A7HL-01A-11D-A34J-08	728305	152128637	97121984	61	94173											
CKS1B	1163	broad.mit.edu	37	chr1	154947273	154947273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacgacgacgaggagtttGagtatcggttagtgctggcg	10	10	15	6	5	0	1	0	1	0	0	1	5	0	2	0	3	2	4	0	3	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:154947273G>C	ENST00000368436.1	+	1	115	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	CKS1B_ENST00000368439.1_5'UTR|CKS1B_ENST00000308987.5_Missense_Mutation_p.E18Q			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	18					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding	p.E18Q(1)		breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGAGGAGTTTGAGTATCGGTT	0.532													10	36					0	0	0	0	C	154947273	G	C	154947273	3	2	489	1	0	0	0	0	1	0	0	0	3482	1291	45	2	54	2	CKS1B	1	154947273	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2818636	154947273	94303348	62	94174											
DCST1	149095	broad.mit.edu	37	chr1	155018687	155018687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatccaggcctcagaaatGagcaatgtggtgaggacagc	13	6	12	10	0	1	3	1	2	0	1	2	4	2	4	3	3	2	1	3	3	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155018687G>A	ENST00000295542.1	+	12	1455	c.1359G>A	c.(1357-1359)atG>atA	p.M453I	DCST1_ENST00000423025.2_Missense_Mutation_p.M428I|DCST1_ENST00000368419.2_Missense_Mutation_p.M453I|DCST1_ENST00000392480.1_Missense_Mutation_p.M453I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	453						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTCAGAAATGAGCAATGTGG	0.567													9	58					0	0	0	0	A	155018687	G	A	155018687	3	1	489	1	0	0	0	0	1	0	0	0	4334	1290	45	2	1401	2	DCST1	1	155018687	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	71414	155018687	94231934	63	94175											
DCST1	149095	broad.mit.edu	37	chr1	155019772	155019772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcagagacagtgatGgaatcaaacaacatgcgtga	15	7	9	10	1	2	3	2	2	0	1	3	5	3	4	2	1	3	0	2	1	3	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155019772G>A	ENST00000295542.1	+	14	1692	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	DCST1_ENST00000423025.2_Missense_Mutation_p.M507I|DCST1_ENST00000368419.2_Missense_Mutation_p.M532I|DCST1_ENST00000392480.1_Missense_Mutation_p.M532I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	532						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGACAGTGATGGAATCAAACA	0.527													11	42					0	0	0	0	A	155019772	G	A	155019772	3	1	489	1	0	0	0	0	1	0	0	0	4334	1348	47	4	1646	4	DCST1	1	155019772	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1085	155019772	94230849	64	94176											
SCAMP3	10067	broad.mit.edu	37	chr1	155226122	155226122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcattggcagctgcggttCgcaccgcagggttggagaag	7	8	16	10	3	0	1	0	0	0	1	1	2	0	1	1	4	3	7	1	4	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155226122C>T	ENST00000355379.3	-	8	1186	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	SCAMP3_ENST00000302631.3_Missense_Mutation_p.R329Q|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	329					post-Golgi vesicle-mediated transport|protein transport	integral to membrane		p.R329Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTGCGGTTCGCACCGCAGG	0.612													28	105					0	0	0	0	T	155226122	C	T	155226122	3	4	489	1	0	0	0	0	1	0	0	0	13958	884	31	1	61	1	SCAMP3	1	155226122	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	206350	155226122	94024499	65	94177											
HDGF	3068	broad.mit.edu	37	chr1	156721214	156721214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccttctgccggttggatCgcgacatggcggggctccgg	4	9	15	13	5	1	0	0	0	1	0	4	2	3	1	3	6	1	2	3	6	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:156721214C>T	ENST00000357325.5	-	1	322	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368206.5_Intron|HDGF_ENST00000368209.5_Intron|HDGF_ENST00000537739.1_Missense_Mutation_p.R3Q|PRCC_ENST00000491853.1_Intron	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	3					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CCGGTTGGATCGCGACATggc	0.751													4	16					0	0	0	0	T	156721214	C	T	156721214	3	4	489	1	0	0	0	0	1	0	0	0	7068	884	31	1	738	1	HDGF	1	156721214	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1495092	156721214	92529407	66	94178											
FCRL4	83417	broad.mit.edu	37	chr1	157557328	157557328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgagagtctgtagctttCagctctggatgtggaaatag	9	12	14	6	0	3	1	1	1	2	1	3	4	3	3	0	3	2	4	0	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:157557328C>T	ENST00000271532.1	-	5	720	c.585G>A	c.(583-585)ctG>ctA	p.L195L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	195	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTGTAGCTTTCAGCTCTGGAT	0.478													39	92					0	0	0	0	T	157557328	C	T	157557328	2	4	489	1	0	0	0	0	0	0	0	1	5842	813	29	2		2	FCRL4	1	157557328	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	836114	157557328	91693293	67	94179											
KIRREL	55243	broad.mit.edu	37	chr1	158064506	158064506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggcagtgctctatgctGactaccgtgcccctggccct	5	9	11	16	1	1	1	0	1	1	0	1	1	1	1	5	2	4	3	5	2	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:158064506G>C	ENST00000368172.1	+	11	1324	c.1312G>C	c.(1312-1314)Gac>Cac	p.D438H	KIRREL_ENST00000416935.2_Missense_Mutation_p.D524H|KIRREL_ENST00000359209.6_Missense_Mutation_p.D624H|KIRREL_ENST00000360089.4_Missense_Mutation_p.D460H|KIRREL_ENST00000368173.3_Missense_Mutation_p.D640H|KIRREL_ENST00000392272.2_Missense_Mutation_p.D521H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	624	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCTCTATGCTGACTACCGTGC	0.647													8	46					0	0	0	0	C	158064506	G	C	158064506	3	2	489	1	0	0	0	0	1	0	0	0	8376	1290	45	2	1928	2	KIRREL	1	158064506	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	507178	158064506	91186115	68	94180											
APCS	325	broad.mit.edu	37	chr1	159558079	159558079	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgagctactagtttataaaGaaagagttggagagtatagt	16	12	11	2	0	0	4	0	1	0	3	0	5	0	4	0	1	2	4	0	1	8	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:159558079G>C	ENST00000255040.2	+	2	350	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	85	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AGTTTATAAAGAAAGAGTTGG	0.433													28	85					0	0	0	0	C	159558079	G	C	159558079	3	2	489	1	0	0	0	0	1	0	0	0	768	943	33	2	259	2	APCS	1	159558079	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1493573	159558079	89692542	69	94181											
IGSF9	57549	broad.mit.edu	37	chr1	159906269	159906269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtagaccccagagctgcctCgctctacccggcggatccgc	6	7	11	17	4	1	2	0	0	1	2	3	3	2	3	5	2	3	3	5	2	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:159906269C>G	ENST00000368094.1	-	6	790	c.593G>C	c.(592-594)cGa>cCa	p.R198P	IGSF9_ENST00000361509.3_Missense_Mutation_p.R198P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	198	Ig-like 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGCTGCCTCGCTCTACCCG	0.657											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	36					0	0	0	0	G	159906269	C	G	159906269	3	3	489	1	0	0	0	0	1	0	0	0	7658	884	31	3	3010	3	IGSF9	1	159906269	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	348190	159906269	89344352	70	94182											
ADCY10	55811	broad.mit.edu	37	chr1	167852773	167852773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggctgggcctatctcttCtgctttgtcttggtcttcaa	4	17	10	10	0	5	0	1	0	4	0	6	1	5	0	1	3	1	2	1	3	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:167852773C>T	ENST00000367848.1	-	9	1143	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	ADCY10_ENST00000367851.4_Missense_Mutation_p.E308K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E155K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	308					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTATCTCTTCTGCTTTGTCT	0.433													38	131					0	0	0	0	T	167852773	C	T	167852773	3	4	489	1	0	0	0	0	1	0	0	0	293	922	32	2	4010	2	ADCY10	1	167852773	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7946504	167852773	81397848	71	94183											
C1orf112	55732	broad.mit.edu	37	chr1	169776935	169776935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttattcatttaggcaGagccttaagcaccagtccat	10	15	6	10	0	2	1	1	0	1	1	3	1	3	1	3	1	2	2	3	1	3	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:169776935G>T	ENST00000286031.6	+	8	1267	c.567G>T	c.(565-567)caG>caT	p.Q189H	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q189H|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q247H|C1orf112_ENST00000413811.2_Missense_Mutation_p.Q160H	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	189										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTTAGGCAGAGCCTTAAGC	0.323													30	103					1.68575e-08	1.74944e-08	1	0	T	169776935	G	T	169776935	3	4	489	1	0	0	0	0	1	0	0	0	2004	933	33	2	589	2	C1orf112	1	169776935	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1924162	169776935	79473686	72	94184											
DNM3	26052	broad.mit.edu	37	chr1	172013590	172013590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaaaacatacatggtatCaggcaagtgattcacatttt	16	12	6	7	0	3	1	3	1	0	0	3	1	3	1	0	2	2	2	0	2	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:172013590C>T	ENST00000358155.4	+	9	1370	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	DNM3_ENST00000367731.1_Silent_p.I398I|DNM3_ENST00000520906.1_Silent_p.I398I|DNM3_ENST00000367733.2_Silent_p.I398I|DNM3_ENST00000355305.5_Silent_p.I398I	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	398					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TACATGGTATCAGGCAAGTGA	0.338													5	15					0	0	0	0	T	172013590	C	T	172013590	2	4	489	1	0	0	0	0	0	0	0	1	4709	816	29	2		2	DNM3	1	172013590	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2236655	172013590	77237031	73	94185											
TNFSF4	7292	broad.mit.edu	37	chr1	173155697	173155697	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggattttgatggataagaatCagttctccgccattcacatg	11	13	9	8	1	3	2	2	1	1	1	4	4	3	4	2	2	0	1	2	2	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:173155697C>G	ENST00000281834.3	-	3	646	c.510G>C	c.(508-510)ctG>ctC	p.L170L	TNFSF4_ENST00000367718.1_Silent_p.L120L	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	170					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GGATAAGAATCAGTTCTCCGC	0.473													13	68					0	0	0	0	G	173155697	C	G	173155697	2	3	489	1	0	0	0	0	0	0	0	1	16404	813	29	2		2	TNFSF4	1	173155697	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1142107	173155697	76094924	74	94186											
NPHS2	7827	broad.mit.edu	37	chr1	179520354	179520354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggatttagtggctcaacaGgtttggaaggacttgggaag	11	11	15	4	0	1	0	1	0	0	0	1	4	1	4	0	6	1	2	0	6	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:179520354G>A	ENST00000367615.4	-	8	1174	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	NPHS2_ENST00000367616.4_Missense_Mutation_p.P301L|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	369					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGCTCAACAGGTTTGGAAGG	0.468													24	59					0	0	0	0	A	179520354	G	A	179520354	3	1	489	1	0	0	0	0	1	0	0	0	10653	1000	35	4	49	4	NPHS2	1	179520354	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6364657	179520354	69730267	75	94187											
HMCN1	83872	broad.mit.edu	37	chr1	186088921	186088921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtgaactacacgtcattCtgaacaatcctattttatta	14	14	4	9	1	2	2	1	2	1	0	3	2	3	2	1	0	3	0	1	0	8	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:186088921C>T	ENST00000271588.4	+	79	12230	c.12001C>T	c.(12001-12003)Ctg>Ttg	p.L4001L	HMCN1_ENST00000367492.2_Silent_p.L4001L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4001	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACGTCATTCTGAACAATCC	0.383													26	78					0	0	0	0	T	186088921	C	T	186088921	2	4	489	1	0	0	0	0	0	0	0	1	7270	912	32	2		2	HMCN1	1	186088921	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6568567	186088921	63161700	76	94188											
CFHR1	3078	broad.mit.edu	37	chr1	196794654	196794654	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggaattctatatgatGaagaaaaatataagccattt	18	12	6	5	0	1	3	0	2	1	1	1	4	1	4	2	1	1	0	2	1	8	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:196794654G>T	ENST00000320493.5	+	2	194	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.E36*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	36	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TCTATATGATGAAGAAAAATA	0.294													9	20					2.17888e-05	2.21927e-05	1	0	T	196794654	G	T	196794654	4	4	489	1	0	0	0	0	0	1	0	0	3313	1291	45	2	112	2	CFHR1	1	196794654	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	10705733	196794654	52455967	77	94189											
DDX59	83479	broad.mit.edu	37	chr1	200635852	200635852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcctcttgatttttagaGatcttggaacaaacatcctt	11	16	5	9	0	2	2	0	1	2	1	4	4	4	3	2	1	2	0	2	1	3	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:200635852G>A	ENST00000447706.2	-	2	168	c.17C>T	c.(16-18)tCt>tTt	p.S6F	DDX59_ENST00000331314.6_Missense_Mutation_p.S6F|DDX59_ENST00000367348.3_Missense_Mutation_p.S6F			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	6						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GATTTTTAGAGATCTTGGAAC	0.313													39	126					0	0	0	0	A	200635852	G	A	200635852	3	1	489	1	0	0	0	0	1	0	0	0	4408	942	33	2	1870	2	DDX59	1	200635852	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3841198	200635852	48614769	78	94190											
LMOD1	25802	broad.mit.edu	37	chr1	201868762	201868762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagattggtgacagtcattCggggcccggccagctcaaaa	10	7	13	11	2	2	2	2	1	0	1	3	2	2	2	2	4	1	2	2	4	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:201868762C>T	ENST00000367288.4	-	2	1625	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	460					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACAGTCATTCGGGGCCCGGC	0.562													6	19					0	0	0	0	T	201868762	C	T	201868762	3	4	489	1	0	0	0	0	1	0	0	0	8911	884	31	1	431	1	LMOD1	1	201868762	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1232910	201868762	47381859	79	94191											
LMOD1	25802	broad.mit.edu	37	chr1	201868902	201868902	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcggtcagcgtgttgttCtggaggagggcccggaagat	7	9	17	8	3	2	1	1	0	1	1	3	4	2	4	1	5	2	3	1	5	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:201868902C>T	ENST00000367288.4	-	2	1485	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	413					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCGTGTTGTTCTGGAGGAGGG	0.572													5	29					0	0	0	0	T	201868902	C	T	201868902	2	4	489	1	0	0	0	0	0	0	0	1	8911	912	32	2		2	LMOD1	1	201868902	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	140	201868902	47381719	80	94192											
PPP1R12B	4660	broad.mit.edu	37	chr1	202464798	202464798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggcacaggcatcaatttCtggacaaaggatgtaagtgg	14	8	13	6	0	2	1	1	0	1	1	2	3	2	3	0	5	0	3	0	5	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:202464798C>G	ENST00000406302.3	+	17	2589	c.2436C>G	c.(2434-2436)ttC>ttG	p.F812L	PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.F38L|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.F38L|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.F812L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	812					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.F812F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCATCAATTTCTGGACAAAGG	0.473													15	74					0	0	0	0	G	202464798	C	G	202464798	3	3	489	1	0	0	0	0	1	0	0	0	12431	912	32	2	2592	2	PPP1R12B	1	202464798	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	595896	202464798	46785823	81	94193											
RPS6KC1	26750	broad.mit.edu	37	chr1	213415086	213415086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggaactgagtgatccctCtgggcccaaatcctatagta	12	9	10	10	0	1	3	0	2	1	1	3	4	3	4	3	2	1	1	3	2	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:213415086C>T	ENST00000366960.3	+	11	2417	c.2267C>T	c.(2266-2268)tCt>tTt	p.S756F	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S544F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S744F|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S459F|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	756					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGTGATCCCTCTGGGCCCAAA	0.438													22	72					0	0	0	0	T	213415086	C	T	213415086	3	4	489	1	0	0	0	0	1	0	0	0	13743	913	32	2	2309	2	RPS6KC1	1	213415086	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	10950288	213415086	35835535	82	94194											
TARBP1	6894	broad.mit.edu	37	chr1	234553865	234553865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagaactttggaagaaattGagggaatttatgaagaatca	17	10	10	4	0	1	5	1	2	0	3	1	7	1	7	1	2	1	0	1	2	7	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:234553865G>C	ENST00000040877.1	-	22	3669	c.3670C>G	c.(3670-3672)Caa>Gaa	p.Q1224E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1224					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGAAGAAATTGAGGGAATTTA	0.274													5	23					0	0	0	0	C	234553865	G	C	234553865	3	2	489	1	0	0	0	0	1	0	0	0	15646	1299	45	2	1231	2	TARBP1	1	234553865	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	21138779	234553865	14696756	83	94195											
LYST	1130	broad.mit.edu	37	chr1	235915397	235915397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtgagcctgaggaactgCaagcatgaattgtaactgct	12	11	11	7	0	0	3	0	3	0	0	0	4	0	4	1	1	6	4	1	1	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:235915397C>T	ENST00000389794.3	-	27	7709	c.7535G>A	c.(7534-7536)tGc>tAc	p.C2512Y	LYST_ENST00000389793.2_Missense_Mutation_p.C2512Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2512					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGGAACTGCAAGCATGAAT	0.328													5	100					0	0	0	0	T	235915397	C	T	235915397	3	4	489	1	0	0	0	0	1	0	0	0	9193	710	25	4	3978	4	LYST	1	235915397	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1361532	235915397	13335224	84	94196											
TFB2M	64216	broad.mit.edu	37	chr1	246727680	246727680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataaaagttttgtcactttCgagcgcaaccactttggcac	12	12	7	10	2	1	0	1	0	0	0	2	1	1	0	1	1	2	3	1	1	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:246727680C>T	ENST00000366514.4	-	2	555	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	TFB2M_ENST00000544618.1_Missense_Mutation_p.E124K	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	124					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTGTCACTTTCGAGCGCAACC	0.378													13	58					0	0	0	0	T	246727680	C	T	246727680	3	4	489	1	0	0	0	0	1	0	0	0	15888	893	31	1	848	1	TFB2M	1	246727680	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	10812283	246727680	2522941	85	94197											
CPSF3	51692	broad.mit.edu	37	chr2	9580747	9580747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgacaaaatccgcaaacaGatcaacatcaataatccctt	19	8	3	11	1	2	2	2	1	0	1	4	2	4	2	2	0	2	1	2	0	7	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:9580747G>A	ENST00000460593.1	+	8	1915	c.777G>A	c.(775-777)caG>caA	p.Q259Q	CPSF3_ENST00000238112.3_Silent_p.Q296Q			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	296					histone mRNA 3'-end processing|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|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCCGCAAACAGATCAACATCA	0.368													18	85					0	0	0	0	A	9580747	G	A	9580747	2	1	489	1	0	0	0	0	0	0	0	1	3856	933	33	2		2	CPSF3	2	9580747	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		9580747	233618626	86	94198											
ROCK2	9475	broad.mit.edu	37	chr2	11355687	11355687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatgatcagctttcctctGatattctgcatttttgtgct	6	20	6	9	0	4	2	2	2	2	0	5	2	5	2	1	0	3	3	1	0	1	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:11355687G>C	ENST00000315872.6	-	14	1994	c.1546C>G	c.(1546-1548)Cag>Gag	p.Q516E	ROCK2_ENST00000401753.1_Missense_Mutation_p.Q273E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	516	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GCTTTCCTCTGATATTCTGCA	0.333													26	130					0	0	0	0	C	11355687	G	C	11355687	3	2	489	1	0	0	0	0	1	0	0	0	13603	1299	45	2	2700	2	ROCK2	2	11355687	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1774940	11355687	231843686	87	94199											
OSR1	130497	broad.mit.edu	37	chr2	19552946	19552946	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccggaaggctttgtggcaGatgtcacaggtgtagggccg	7	9	16	9	2	1	1	1	0	0	1	2	2	2	2	2	5	0	3	2	5	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:19552946G>A	ENST00000536433.1	-	1	3731	c.621C>T	c.(619-621)atC>atT	p.I207I	OSR1_ENST00000272223.2_Silent_p.I207I			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	207					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CTTTGTGGCAGATGTCACAGG	0.592													32	46					0	0	0	0	A	19552946	G	A	19552946	2	1	489	1	0	0	0	0	0	0	0	1	11364	932	33	2		2	OSR1	2	19552946	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	8197259	19552946	223646427	88	94200											
EMILIN1	11117	broad.mit.edu	37	chr2	27306410	27306410	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctcagcttcagctccctCaatgactcactgaatgagct	10	12	6	13	0	4	3	4	3	1	0	6	3	5	3	1	0	3	3	1	0	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:27306410C>G	ENST00000380320.4	+	4	2470	c.1971C>G	c.(1969-1971)ctC>ctG	p.L657L		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	657					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCTCCCTCAATGACTCAC	0.587													15	56					0	0	0	0	G	27306410	C	G	27306410	2	3	489	1	0	0	0	0	0	0	0	1	5131	813	29	2		2	EMILIN1	2	27306410	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7753464	27306410	215892963	89	94201											
GPN1	11321	broad.mit.edu	37	chr2	27861751	27861751	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgacttctctctggtacaGactgacatcattgaccacag	11	12	7	11	0	3	4	1	3	2	1	4	4	3	4	1	1	1	1	1	1	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:27861751G>C	ENST00000264718.3	+	9	633		c.e9-1		GPN1_ENST00000461249.1_Splice_Site|GPN1_ENST00000515877.1_Splice_Site|GPN1_ENST00000503738.1_Splice_Site|GPN1_ENST00000424214.1_Splice_Site|GPN1_ENST00000407583.3_Splice_Site|GPN1_ENST00000458167.2_Splice_Site	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1							cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CTCTGGTACAGACTGACATCA	0.388													12	59					0	0	0	0	C	27861751	G	C	27861751	5	2	489	1	0	0	0	0	0	0	1	0	6666	956	33	2	729	2	GPN1	2	27861751	Splice_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	555341	27861751	215337622	90	94202											
GALNT14	79623	broad.mit.edu	37	chr2	31154959	31154959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacgtgttggcatttccatCagggaaaacgtaggggtgct	10	11	13	7	2	1	0	1	0	0	0	2	1	2	1	1	4	3	4	1	4	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:31154959C>T	ENST00000349752.5	-	10	1672	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	GALNT14_ENST00000356174.3_Missense_Mutation_p.D312N|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.D310N|GALNT14_ENST00000324589.5_Missense_Mutation_p.D350N|GALNT14_ENST00000406653.1_Missense_Mutation_p.D325N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	345						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCATTTCCATCAGGGAAAACG	0.607													10	34					0	0	0	0	T	31154959	C	T	31154959	3	4	489	1	0	0	0	0	1	0	0	0	6261	826	29	2	649	2	GALNT14	2	31154959	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3293208	31154959	212044414	91	94203											
FOXN2	3344	broad.mit.edu	37	chr2	48573479	48573479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgttgatgctgccaggccGaaggccactctagtggacag	8	8	14	11	1	1	1	0	1	1	0	1	3	1	2	3	3	2	3	3	3	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:48573479G>A	ENST00000340553.3	+	3	387	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	42					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTGCCAGGCCGAAGGCCACTC	0.463													27	95					0	0	0	0	A	48573479	G	A	48573479	2	1	489	1	0	0	0	0	0	0	0	1	6067	1045	37	1		1	FOXN2	2	48573479	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	17418520	48573479	194625894	92	94204											
NAGK	55577	broad.mit.edu	37	chr2	71305524	71305524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttcaccctgatgaagctGaggcactcctccgctctggg	7	9	11	14	1	2	3	1	3	1	0	4	3	4	3	3	2	2	4	3	2	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:71305524G>A	ENST00000418807.3	+	9	932	c.768G>A	c.(766-768)ctG>ctA	p.L256L	NAGK_ENST00000244204.5_Silent_p.L307L|NAGK_ENST00000455662.2_Silent_p.L353L			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	307					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TGATGAAGCTGAGGCACTCCT	0.587													11	32					0	0	0	0	A	71305524	G	A	71305524	2	1	489	1	0	0	0	0	0	0	0	1	10212	1277	45	2		2	NAGK	2	71305524	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	22732045	71305524	171893849	93	94205											
ALMS1	7840	broad.mit.edu	37	chr2	73718100	73718100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatcaacataagcctaaatCacacatttctaatataaatg	19	12	2	8	0	3	0	2	0	1	0	3	0	3	0	1	0	2	0	1	0	9	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:73718100C>T	ENST00000264448.6	+	10	9122	c.9011C>T	c.(9010-9012)tCa>tTa	p.S3004L	ALMS1_ENST00000409009.1_Missense_Mutation_p.S2962L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3004					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				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						AAGCCTAAATCACACATTTCT	0.408													38	103					0	0	0	0	T	73718100	C	T	73718100	3	4	489	1	0	0	0	0	1	0	0	0	535	838	29	2	9049	2	ALMS1	2	73718100	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2412576	73718100	169481273	94	94206											
SLC4A5	57835	broad.mit.edu	37	chr2	74491407	74491407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggagaccatcctcaatCtgcttctcaatgacatcatc	11	10	6	14	1	4	2	3	1	2	1	7	3	5	2	2	1	1	2	2	1	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:74491407C>A	ENST00000394019.2	-	10	979	c.582G>T	c.(580-582)caG>caT	p.Q194H	SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q194H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Q194H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Q130H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Q130H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q194H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q194H|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Q194H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	194						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CATCCTCAATCTGCTTCTCAA	0.537													13	36					7.03913e-09	7.3137e-09	1	0	A	74491407	C	A	74491407	3	1	489	1	0	0	0	0	1	0	0	0	14745	912	32	2	2919	2	SLC4A5	2	74491407	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	773307	74491407	168707966	95	94207											
SFTPB	6439	broad.mit.edu	37	chr2	85892750	85892750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtgtgaggcccaggcctCgcctggagggccccgggcag	4	6	18	13	2	0	1	0	1	0	0	1	2	0	2	5	5	0	1	5	5	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:85892750C>T	ENST00000393822.3	-	6	696	c.597G>A	c.(595-597)gcG>gcA	p.A199A	SFTPB_ENST00000409383.1_Silent_p.A199A|SFTPB_ENST00000342375.3_Silent_p.A187A|SFTPB_ENST00000519937.2_Silent_p.A187A			P07988	PSPB_HUMAN	surfactant protein B	187					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCCCAGGCCTCGCCTGGAGGG	0.677													27	56					0	0	0	0	T	85892750	C	T	85892750	2	4	489	1	0	0	0	0	0	0	0	1	14278	871	31	1		1	SFTPB	2	85892750	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	11401343	85892750	157306623	96	94208											
SULT1C4	27233	broad.mit.edu	37	chr2	108998900	108998900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaacacatcttccctttCacttgctgccaccatccttg	9	13	4	15	0	2	1	1	1	1	0	4	1	4	1	4	0	3	1	4	0	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:108998900C>T	ENST00000272452.2	+	3	681	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	119					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCTTCCCTTTCACTTGCTGCC	0.393													49	173					0	0	0	0	T	108998900	C	T	108998900	3	4	489	1	0	0	0	0	1	0	0	0	15469	826	29	2	365	2	SULT1C4	2	108998900	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	23106150	108998900	134200473	97	94209											
RANBP2	5903	broad.mit.edu	37	chr2	109398721	109398721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctttggcatacaatgaaGaattattaccggatcctaat	14	14	6	7	1	1	2	0	1	1	1	2	3	2	3	2	2	2	1	2	2	7	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:109398721G>A	ENST00000283195.6	+	27	9024	c.8898G>A	c.(8896-8898)aaG>aaA	p.K2966K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2966	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATACAATGAAGAATTATTACC	0.378													32	107					0	0	0	0	A	109398721	G	A	109398721	2	1	489	1	0	0	0	0	0	0	0	1	13110	933	33	2		2	RANBP2	2	109398721	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	399821	109398721	133800652	98	94210											
LIMS2	55679	broad.mit.edu	37	chr2	128414994	128414994	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcatagaagagcccctCggggaagggccggaagcact	11	4	13	13	2	1	2	1	0	0	2	2	4	1	4	4	4	2	1	4	4	4	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:128414994C>A	ENST00000409455.1	-	2	774	c.139G>T	c.(139-141)Gag>Tag	p.E47*	LIMS2_ENST00000545738.2_Nonsense_Mutation_p.E74*|LIMS2_ENST00000410011.1_Nonsense_Mutation_p.E47*|LIMS2_ENST00000324938.5_Nonsense_Mutation_p.E76*|LIMS2_ENST00000355119.4_Nonsense_Mutation_p.E52*|LIMS2_ENST00000409808.2_Nonsense_Mutation_p.E47*			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	52	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		AAGAGCCCCTCGGGGAAGGGC	0.632													25	63					1.13719e-10	1.19425e-10	1	0	A	128414994	C	A	128414994	4	1	489	1	0	0	0	0	0	1	0	0	8858	893	31	3	907	3	LIMS2	2	128414994	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	19016273	128414994	114784379	99	94211											
SAP130	79595	broad.mit.edu	37	chr2	128757382	128757382	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtactgtcatggtaacAatggtacttgtgggagcttg	9	12	15	5	0	1	0	1	0	0	0	1	2	1	1	0	4	4	4	0	4	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:128757382A>G	ENST00000357702.5	-	10	1355	c.1224T>C	c.(1222-1224)atT>atC	p.I408I	SAP130_ENST00000259234.6_Silent_p.I382I|SAP130_ENST00000259235.3_Silent_p.I408I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	408					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCATGGTAACAATGGTACTTG	0.478													20	58					0	0	0	0	G	128757382	A	G	128757382	2	3	489	1	0	0	0	0	0	0	0	1	13916	126	5	5		5	SAP130	2	128757382	Silent	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	342388	128757382	114441991	100	94212											
GPR148	344561	broad.mit.edu	37	chr2	131487611	131487611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacattgactctgggaCtcacacatggctcctggcag	9	8	9	15	0	2	1	1	1	1	0	3	2	3	2	3	3	0	2	3	3	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:131487611C>G	ENST00000309926.4	+	1	969	c.887C>G	c.(886-888)aCt>aGt	p.T296S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GACTCTGGGACTCACACATGG	0.567													12	47					0	0	0	0	G	131487611	C	G	131487611	3	3	489	1	0	0	0	0	1	0	0	0	6702	565	20	4	889	4	GPR148	2	131487611	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2730229	131487611	111711762	101	94213											
POTEE	445582	broad.mit.edu	37	chr2	131976140	131976140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgacgactctgctatgaaGacactcaggagcaagatggg	13	6	12	10	2	2	3	1	1	1	2	2	6	2	4	0	2	2	2	0	2	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:131976140G>T	ENST00000356920.5	+	1	259	c.165G>T	c.(163-165)aaG>aaT	p.K55N	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55N	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	55							ATP binding										CTGCTATGAAGACACTCAGGA	0.607													86	242					2.1459e-41	2.31158e-41	1	0	T	131976140	G	T	131976140	3	4	489	1	0	0	0	0	1	0	0	0	12336	933	33	2	167	2	POTEE	2	131976140	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	488529	131976140	111223233	102	94214											
LRP1B	53353	broad.mit.edu	37	chr2	141641478	141641478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctagtttggccacttcGatttggtccagattgctgtc	6	15	9	11	1	1	1	0	0	1	1	4	2	2	1	3	2	1	2	3	2	1	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:141641478G>A	ENST00000389484.3	-	25	5048	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1359					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGCCACTTCGATTTGGTCCA	0.493										TSP Lung(27;0.18)			37	126					0	0	0	0	A	141641478	G	A	141641478	2	1	489	1	0	0	0	0	0	0	0	1	9019	1048	37	1		1	LRP1B	2	141641478	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	9665338	141641478	101557895	103	94215											
FMNL2	114793	broad.mit.edu	37	chr2	153475613	153475613	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgggggccgcttcctCaggacccttgccccctcctc	5	8	9	19	1	1	0	1	0	0	0	4	1	3	1	6	3	1	1	6	3	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:153475613C>A	ENST00000288670.9	+	14	1935	c.1568C>A	c.(1567-1569)tCa>tAa	p.S523*		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	523					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCCGCTTCCTCAGGACCCTTG	0.557													16	36					6.94344e-10	7.24856e-10	1	0	A	153475613	C	A	153475613	4	1	489	1	0	0	0	0	0	1	0	0	5997	838	29	2	1622	2	FMNL2	2	153475613	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	11834135	153475613	89723760	104	94216											
NR4A2	4929	broad.mit.edu	37	chr2	157182274	157182274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttagaaaggtaaagtgtcCaggaaaagtttgtcaattat	15	13	9	4	0	2	1	1	0	1	1	3	2	3	2	1	2	0	2	1	2	8	4	rs141522485		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:157182274C>T	ENST00000339562.4	-	8	2141	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L	NR4A2_ENST00000409572.1_Silent_p.L593L|NR4A2_ENST00000409108.2_3'UTR|NR4A2_ENST00000539077.1_Silent_p.L604L|NR4A2_ENST00000426264.1_Silent_p.L530L|NR4A2_ENST00000429376.1_3'UTR	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	593					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTAAAGTGTCCAGGAAAAGTT	0.473													34	103					0	0	0	0	T	157182274	C	T	157182274	2	4	489	1	0	0	0	0	0	0	0	1	10704	581	21	4		4	NR4A2	2	157182274	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3706661	157182274	86017099	105	94217											
ACVR1C	130399	broad.mit.edu	37	chr2	158443739	158443739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttgttgcaaaaatctgtGaagcagcattcggttttggt	10	15	11	5	1	1	1	0	1	1	0	2	1	1	1	0	2	3	6	0	2	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:158443739G>A	ENST00000243349.7	-	2	624	c.264C>T	c.(262-264)ttC>ttT	p.F88F	ACVR1C_ENST00000348328.5_Silent_p.F88F|ACVR1C_ENST00000409680.3_Silent_p.F38F|ACVR1C_ENST00000335450.7_Silent_p.F88F	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	88					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AAAAATCTGTGAAGCAGCATT	0.388													43	193					0	0	0	0	A	158443739	G	A	158443739	2	1	489	1	0	0	0	0	0	0	0	1	222	1281	45	2		2	ACVR1C	2	158443739	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1261465	158443739	84755634	106	94218											
DAPL1	92196	broad.mit.edu	37	chr2	159672323	159672323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacattattcagcagcctcGaaaatgttaagcctggattt	12	13	7	9	1	1	0	1	0	0	0	2	2	1	1	2	1	4	2	2	1	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:159672323G>A	ENST00000309950.3	+	4	370	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	105					apoptosis|cell differentiation					prostate(1)	1						CAGCAGCCTCGAAAATGTTAA	0.463													28	97					0	0	0	0	A	159672323	G	A	159672323	3	1	489	1	0	0	0	0	1	0	0	0	4271	1058	37	1	328	1	DAPL1	2	159672323	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1228584	159672323	83527050	107	94219											
SLC4A10	57282	broad.mit.edu	37	chr2	162751237	162751237	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcgtaatgacttggtaTcaggaattgatgagtttctg	12	14	11	4	1	2	4	1	3	1	1	3	5	2	5	0	2	0	3	0	2	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:162751237T>G	ENST00000535165.1	+	10	1276	c.1155T>G	c.(1153-1155)taT>taG	p.Y385*	SLC4A10_ENST00000415876.2_Missense_Mutation_p.S385A|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S396A|SLC4A10_ENST00000446997.1_Missense_Mutation_p.S415A|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S385A|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S415A			Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	0					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGACTTGGTATCAGGAATTGA	0.343													15	40					0	0	0	0	G	162751237	T	G	162751237	4	3	489	1	0	0	0	0	0	1	0	0	14739	1435	50	5	1370	5	SLC4A10	2	162751237	Nonsense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	3078914	162751237	80448136	108	94220											
NFE2L2	4780	broad.mit.edu	37	chr2	178095961	178095961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttttgccctaagttcaTctcttgtgagatgagcctcc	7	14	9	11	0	2	2	1	2	1	1	4	4	3	2	3	0	3	2	3	0	1	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:178095961T>C	ENST00000397062.3	-	5	1924	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D441G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D434G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D441G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	457					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CCTAAGTTCATCTCTTGTGAG	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			59	177					0	0	0	0	C	178095961	T	C	178095961	3	2	489	1	0	0	0	0	1	0	0	0	10438	1435	50	5	451	5	NFE2L2	2	178095961	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	15344724	178095961	65103412	109	94221											
DFNB59	494513	broad.mit.edu	37	chr2	179325777	179325777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttttttctgactactatGacaaacctctcagcatgact	11	15	4	11	0	3	3	1	3	3	0	4	3	3	3	1	0	3	1	1	0	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179325777G>A	ENST00000409117.3	+	7	1191	c.835G>A	c.(835-837)Gac>Aac	p.D279N	DFNB59_ENST00000375129.4_Missense_Mutation_p.D279N	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	279					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)			TGACTACTATGACAAACCTCT	0.378													32	160					0	0	0	0	A	179325777	G	A	179325777	3	1	489	1	0	0	0	0	1	0	0	0	4493	1290	45	2	857	2	DFNB59	2	179325777	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1229816	179325777	63873596	110	94222											
TTN	7273	broad.mit.edu	37	chr2	179429972	179429972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgataacactgagattttCtgttgctgtgcctgcactat	10	14	8	9	1	1	1	0	1	1	1	1	3	1	1	1	0	5	3	1	0	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179429972C>T	ENST00000589042.1	-	326	81111	c.80887G>A	c.(80887-80889)Gaa>Aaa	p.E26963K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17898K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24395K|TTN_ENST00000359218.5_Missense_Mutation_p.E18023K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25322K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18090K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25322	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGATTTTCTGTTGCTGTG	0.418													21	108					0	0	0	0	T	179429972	C	T	179429972	3	4	489	1	0	0	0	0	1	0	0	0	16831	922	32	2	27240	2	TTN	2	179429972	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	104195	179429972	63769401	111	94223											
TTN	7273	broad.mit.edu	37	chr2	179641970	179641970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtagctctgactttcatttCaagtcgggaaccttccttta	8	15	7	11	2	3	1	2	1	1	0	5	2	4	2	2	1	2	2	2	1	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179641970C>T	ENST00000589042.1	-	27	4944	c.4720G>A	c.(4720-4722)Gaa>Aaa	p.E1574K	TTN_ENST00000360870.5_Missense_Mutation_p.E1574K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E1528K|TTN_ENST00000342992.6_Missense_Mutation_p.E1574K|TTN_ENST00000359218.5_Missense_Mutation_p.E1528K|TTN_ENST00000591111.1_Missense_Mutation_p.E1574K|TTN_ENST00000342175.6_Missense_Mutation_p.E1528K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1309	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTCATTTCAAGTCGGGAA	0.383													31	108					0	0	0	0	T	179641970	C	T	179641970	3	4	489	1	0	0	0	0	1	0	0	0	16831	835	29	2	106612	2	TTN	2	179641970	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	211998	179641970	63557403	112	94224											
FSIP2	401024	broad.mit.edu	37	chr2	186671243	186671243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaaaaaagtatcctcctCaactaacaaaaatatctctg	20	9	2	10	0	2	0	1	0	1	0	5	0	4	0	2	0	3	1	2	0	10	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:186671243C>T	ENST00000343098.5	+	17	17477	c.17477C>T	c.(17476-17478)tCa>tTa	p.S5826L	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5737L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTATCCTCCTCAACTAACAAA	0.368													26	66					0	0	0	0	T	186671243	C	T	186671243	3	4	489	1	0	0	0	0	1	0	0	0	6123	838	29	2	17543	2	FSIP2	2	186671243	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7029273	186671243	56528130	113	94225											
STAT4	6775	broad.mit.edu	37	chr2	191898712	191898712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatgtccaaaaggtaaatGatttaccaggtaaatgttcc	14	11	8	8	0	0	1	0	1	0	0	2	1	2	1	4	2	1	3	4	2	7	5	rs144091208		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:191898712G>A	ENST00000392320.2	-	19	1954	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	STAT4_ENST00000358470.4_Missense_Mutation_p.S547L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	547					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S547L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAAGGTAAATGATTTACCAGG	0.294													48	139					0	0	0	0	A	191898712	G	A	191898712	3	1	489	1	0	0	0	0	1	0	0	0	15357	1294	45	2	630	2	STAT4	2	191898712	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5227469	191898712	51300661	114	94226											
MYO1B	4430	broad.mit.edu	37	chr2	192228948	192228948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctagaacgagcattcagtttCcgaacagttgaggccaaaca	14	8	9	10	2	1	2	1	1	0	1	2	4	2	2	2	1	4	3	2	1	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:192228948C>T	ENST00000392318.3	+	11	1225	c.978C>T	c.(976-978)ttC>ttT	p.F326F	MYO1B_ENST00000339514.4_Silent_p.F326F|MYO1B_ENST00000392316.1_Silent_p.F326F|MYO1B_ENST00000304164.4_Silent_p.F326F	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	326	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CATTCAGTTTCCGAACAGTTG	0.418													38	131					0	0	0	0	T	192228948	C	T	192228948	2	4	489	1	0	0	0	0	0	0	0	1	10139	854	30	2		2	MYO1B	2	192228948	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	330236	192228948	50970425	115	94227											
PGAP1	80055	broad.mit.edu	37	chr2	197708715	197708715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgaaggctatcttcagcatCgttggcagataaacgaagat	13	9	11	8	3	2	2	1	0	1	2	3	4	2	2	0	2	2	4	0	2	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:197708715C>T	ENST00000354764.3	-	25	2536	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	808					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCTTCAGCATCGTTGGCAGAT	0.358													21	74					0	0	0	0	T	197708715	C	T	197708715	3	4	489	1	0	0	0	0	1	0	0	0	11849	884	31	1	358	1	PGAP1	2	197708715	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5479767	197708715	45490658	116	94228											
CDK15	65061	broad.mit.edu	37	chr2	202671425	202671425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcaaagactgtacagcctgGatgcagctgctaccattgtt	10	11	10	10	0	0	1	0	0	0	1	0	2	0	2	2	1	7	6	2	1	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:202671425G>C	ENST00000450471.2	+	1	124	c.38G>C	c.(37-39)gGa>gCa	p.G13A	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.G13A|CDK15_ENST00000260967.2_Intron|CDK15_ENST00000374598.4_Missense_Mutation_p.G13A|CDK15_ENST00000410091.3_Intron	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	13							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GTACAGCCTGGATGCAGCTGC	0.537													11	25					0	0	0	0	C	202671425	G	C	202671425	3	2	489	1	0	0	0	0	1	0	0	0	3160	1189	41	2		2	CDK15	2	202671425	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4962710	202671425	40527948	117	94229											
SPAG16	79582	broad.mit.edu	37	chr2	215013944	215013944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttaccaattgtgtccatCgatataggtccaagtcctgg	9	13	9	10	1	0	0	0	0	0	0	4	1	3	0	4	2	1	1	4	2	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:215013944C>T	ENST00000331683.5	+	15	1769	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	SPAG16_ENST00000374309.3_Silent_p.I464I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	558					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGTGTCCATCGATATAGGTC	0.388													26	151					0	0	0	0	T	215013944	C	T	215013944	2	4	489	1	0	0	0	0	0	0	0	1	15068	874	31	1		1	SPAG16	2	215013944	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	12342519	215013944	28185429	118	94230											
CCDC108	255101	broad.mit.edu	37	chr2	219878634	219878634	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctgcccaggactcaggctCccagccttggggctgatgga	6	8	13	14	0	1	1	1	1	0	0	3	3	3	3	4	5	2	2	4	5	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:219878634C>G	ENST00000341552.5	-	22	3818	c.3735G>C	c.(3733-3735)ggG>ggC	p.G1245G	CCDC108_ENST00000453220.1_Silent_p.G1245G|CCDC108_ENST00000441968.1_Silent_p.G1245G|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1245						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCAGGCTCCCAGCCTTGG	0.592													10	35					0	0	0	0	G	219878634	C	G	219878634	2	3	489	1	0	0	0	0	0	0	0	1	2768	842	30	2		2	CCDC108	2	219878634	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4864690	219878634	23320739	119	94231											
SLC23A3	151295	broad.mit.edu	37	chr2	220032949	220032949	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagacagggagaggagtgtGagttgatgacgttgaagctc	12	8	17	4	1	0	6	0	4	0	2	1	9	0	7	0	2	1	3	0	2	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:220032949G>C	ENST00000396775.3	-	5	694	c.410C>G	c.(409-411)tCa>tGa	p.S137*	SLC23A3_ENST00000455516.2_Missense_Mutation_p.H264D|SLC23A3_ENST00000409878.3_Missense_Mutation_p.H256D|SLC23A3_ENST00000295738.7_Silent_p.L245L			Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	288					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGGAGTGTGAGTTGATGAC	0.587													9	30					0	0	0	0	C	220032949	G	C	220032949	4	2	489	1	0	0	0	0	0	1	0	0	14552	1290	45	2	1094	2	SLC23A3	2	220032949	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	154315	220032949	23166424	120	94232											
DNPEP	23549	broad.mit.edu	37	chr2	220247868	220247868	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtacctcttcgttgtcataGagtgtgaccatgcgcacgtg	7	12	11	11	4	2	2	1	1	1	1	3	2	2	2	2	0	2	3	2	0	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:220247868G>C	ENST00000273075.4	-	10	1141	c.921C>G	c.(919-921)ctC>ctG	p.L307L	DNPEP_ENST00000523282.1_Silent_p.L315L|DNPEP_ENST00000373972.1_Silent_p.L232L	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	297					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CGTTGTCATAGAGTGTGACCA	0.582													22	44					0	0	0	0	C	220247868	G	C	220247868	2	2	489	1	0	0	0	0	0	0	0	1	4715	929	33	2		2	DNPEP	2	220247868	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	214919	220247868	22951505	121	94233											
DOCK10	55619	broad.mit.edu	37	chr2	225729338	225729338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtttcccatcaagactttttCgattttggccaccaaaacaa	12	13	5	11	1	1	1	1	0	0	1	3	2	2	1	3	1	1	1	3	1	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:225729338C>G	ENST00000409592.3	-	13	1629	c.1516G>C	c.(1516-1518)Gaa>Caa	p.E506Q	DOCK10_ENST00000258390.7_Missense_Mutation_p.E512Q			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	512							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGACTTTTTCGATTTTGGCC	0.368													12	46					0	0	0	0	G	225729338	C	G	225729338	3	3	489	1	0	0	0	0	1	0	0	0	4721	893	31	3	5202	3	DOCK10	2	225729338	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5481470	225729338	17470035	122	94234											
COL4A4	1286	broad.mit.edu	37	chr2	227886817	227886817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatggctccttctggtcctCtcatgcctggcgccccagga	4	10	10	17	1	2	0	1	0	2	0	5	1	4	1	6	4	1	1	6	4	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:227886817C>G	ENST00000396625.3	-	44	4370	c.4163G>C	c.(4162-4164)aGa>aCa	p.R1388T	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1385T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1388	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCTGGTCCTCTCATGCCTGG	0.547													55	201					0	0	0	0	G	227886817	C	G	227886817	3	3	489	1	0	0	0	0	1	0	0	0	3723	913	32	2	929	2	COL4A4	2	227886817	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2157479	227886817	15312556	123	94235											
SPHKAP	80309	broad.mit.edu	37	chr2	228855743	228855743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctgttttcctgagatttCttaaagtagatggtgggaat	10	17	10	4	0	2	2	0	1	2	2	3	4	3	3	1	2	0	2	1	2	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:228855743C>T	ENST00000392056.3	-	11	4978	c.4932G>A	c.(4930-4932)aaG>aaA	p.K1644K	SPHKAP_ENST00000344657.5_Silent_p.K1615K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1644						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTGAGATTTCTTAAAGTAGA	0.453													12	82					0	0	0	0	T	228855743	C	T	228855743	2	4	489	1	0	0	0	0	0	0	0	1	15138	912	32	2		2	SPHKAP	2	228855743	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	968926	228855743	14343630	124	94236											
SPHKAP	80309	broad.mit.edu	37	chr2	228890197	228890197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttttggttgttggacattCatggaactgataagttttgg	8	18	11	4	0	2	1	1	1	1	0	2	3	2	3	0	4	1	3	0	4	2	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:228890197C>G	ENST00000392056.3	-	5	400	c.354G>C	c.(352-354)atG>atC	p.M118I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M118I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	118						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTGGACATTCATGGAACTGA	0.358													24	96					0	0	0	0	G	228890197	C	G	228890197	3	3	489	1	0	0	0	0	1	0	0	0	15138	826	29	2	4780	2	SPHKAP	2	228890197	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	34454	228890197	14309176	125	94237											
NMUR1	10316	broad.mit.edu	37	chr2	232393418	232393418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcagcaccagcaggtccGacacggccaggctgaagagg	11	2	14	14	2	0	2	0	1	0	1	1	3	1	2	4	4	3	4	4	4	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:232393418G>A	ENST00000305141.4	-	2	447	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGCAGGTCCGACACGGCCAG	0.632													23	66					0	0	0	0	A	232393418	G	A	232393418	3	1	489	1	0	0	0	0	1	0	0	0	10576	1059	37	1	974	1	NMUR1	2	232393418	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3503221	232393418	10805955	126	94238											
CHRND	1144	broad.mit.edu	37	chr2	233393663	233393663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtggagtggatcatcattGatcctgaaggcttcacaggt	9	11	12	9	1	3	2	3	2	0	0	4	4	4	4	2	4	0	1	2	4	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:233393663G>A	ENST00000258385.3	+	6	633	c.601G>A	c.(601-603)Gat>Aat	p.D201N	CHRND_ENST00000543200.1_Missense_Mutation_p.D186N|CHRND_ENST00000536614.1_Intron|CHRND_ENST00000457943.2_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	201					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GATCATCATTGATCCTGAAGG	0.587													19	45					0	0	0	0	A	233393663	G	A	233393663	3	1	489	1	0	0	0	0	1	0	0	0	3423	1290	45	2	623	2	CHRND	2	233393663	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1000245	233393663	9805710	127	94239											
GIGYF2	26058	broad.mit.edu	37	chr2	233671332	233671332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaaaatgtggggaagggttCccttttctccaggtccagct	8	12	12	9	0	1	1	0	1	1	0	4	2	3	2	3	4	1	2	3	4	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:233671332C>T	ENST00000373566.3	+	16	2034	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S	GIGYF2_ENST00000409196.3_Missense_Mutation_p.P585S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.P591S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.P591S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P613S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.P422S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P612S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	591	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGGAAGGGTTCCCTTTTCTCC	0.443													58	137					0	0	0	0	T	233671332	C	T	233671332	3	4	489	1	0	0	0	0	1	0	0	0	6429	855	30	2	1891	2	GIGYF2	2	233671332	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	277669	233671332	9528041	128	94240											
USP40	55230	broad.mit.edu	37	chr2	234407258	234407258	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgtaaatgccaggcatctCctataaaggagtcaaaattg	14	11	8	8	1	2	0	1	0	1	0	4	1	2	1	2	2	1	2	2	2	7	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:234407258C>T	ENST00000251722.6	-	23	2765	c.2647_splice	c.e23-1	p.G883_splice	USP40_ENST00000427112.2_Splice_Site_p.G883_splice|USP40_ENST00000409945.1_Splice_Site_p.G59_splice|USP40_ENST00000450966.1_Splice_Site_p.G895_splice			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	883					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.G895V(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCAGGCATCTCCTATAAAGGA	0.373													6	35					0	0	0	0	T	234407258	C	T	234407258	5	4	489	1	0	0	0	0	0	0	1	0	17168	869	30	2	1099	2	USP40	2	234407258	Splice_Site	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	735926	234407258	8792115	129	94241											
UGT1A5	54579	broad.mit.edu	37	chr2	234621862	234621862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaagaagagaactttttCaccctgacaacgtatgccat	15	10	6	10	1	2	3	2	1	0	2	2	4	2	3	2	0	3	1	2	0	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:234621862C>T	ENST00000373414.3	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AGAACTTTTTCACCCTGACAA	0.502													35	135					0	0	0	0	T	234621862	C	T	234621862	2	4	489	1	0	0	0	0	0	0	0	1	17044	825	29	2		2	UGT1A5	2	234621862	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	214604	234621862	8577511	130	94242											
SH3BP4	23677	broad.mit.edu	37	chr2	235950877	235950877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacacatccacccatccttCaagacggtagtgaccatttt	13	10	5	13	1	1	2	1	1	0	1	3	2	3	2	4	1	1	1	4	1	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:235950877C>G	ENST00000409212.1	+	4	1971	c.1464C>G	c.(1462-1464)ttC>ttG	p.F488L	SH3BP4_ENST00000344528.4_Missense_Mutation_p.F488L|SH3BP4_ENST00000392011.2_Missense_Mutation_p.F488L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	488					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACCCATCCTTCAAGACGGTAG	0.577													25	74					0	0	0	0	G	235950877	C	G	235950877	3	3	489	1	0	0	0	0	1	0	0	0	14333	825	29	2	1470	2	SH3BP4	2	235950877	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1329015	235950877	7248496	131	94243											
COL6A3	1293	broad.mit.edu	37	chr2	238287348	238287348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggctgaatcagctgctGaggcaaagctggcagggagc	10	6	17	8	0	1	2	1	2	0	0	1	3	1	3	0	5	4	6	0	5	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:238287348G>T	ENST00000295550.4	-	6	2880	c.2428C>A	c.(2428-2430)Cag>Aag	p.Q810K	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q604K|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q604K|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q403K|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q604K|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q609K|COL6A3_ENST00000346358.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	810	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCAGCTGCTGAGGCAAAGCT	0.542													21	62					3.51602e-12	3.70573e-12	1	0	T	238287348	G	T	238287348	3	4	489	1	0	0	0	0	1	0	0	0	3731	1299	45	2	7308	2	COL6A3	2	238287348	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2336471	238287348	4912025	132	94244											
HDLBP	3069	broad.mit.edu	37	chr2	242170210	242170210	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgcgaatggctttgccGcgggcaccaatgatgcgggc	7	10	14	10	4	0	1	0	1	0	0	0	2	0	1	2	3	3	2	2	3	2	3	rs11555546		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:242170210G>A	ENST00000391975.1	-	25	3665	c.3438C>T	c.(3436-3438)cgC>cgT	p.R1146R	HDLBP_ENST00000391976.2_Silent_p.R1146R|HDLBP_ENST00000427183.2_Silent_p.R1113R|HDLBP_ENST00000310931.4_Silent_p.R1146R	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1146	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGCTTTGCCGCGGGCACCAA	0.582													14	38					0	0	0	0	A	242170210	G	A	242170210	2	1	489	1	0	0	0	0	0	0	0	1	7075	1074	38	1		1	HDLBP	2	242170210	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3882862	242170210	1029163	133	94245											
FARP2	9855	broad.mit.edu	37	chr2	242433534	242433534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatggtcagggggaaggaGgaatgacgctcaacctgccc	10	5	17	9	1	2	1	2	1	0	0	2	5	2	5	2	6	2	1	2	6	3	0	rs145352184		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:242433534G>C	ENST00000264042.3	+	27	3329	c.3159G>C	c.(3157-3159)gaG>gaC	p.E1053D	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1053					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGGGAAGGAGGAATGACGCT	0.612													10	55					0	0	0	0	C	242433534	G	C	242433534	3	2	489	1	0	0	0	0	1	0	0	0	5722	991	35	4	3261	4	FARP2	2	242433534	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	263324	242433534	765839	134	94246											
ATP2B2	491	broad.mit.edu	37	chr3	10452365	10452365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagatgatggcggcaatctCcaggatgatgagcgtcacgt	10	8	15	8	3	2	4	1	3	1	1	3	6	2	5	1	4	1	1	1	4	1	0	rs41293357		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:10452365C>G	ENST00000397077.1	-	5	909	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E112Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E112Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E112Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E112Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	112					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGGCAATCTCCAGGATGATG	0.572													48	209					0	0	0	0	G	10452365	C	G	10452365	3	3	489	1	0	0	0	0	1	0	0	0	1144	864	30	2	3481	2	ATP2B2	3	10452365	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		10452365	187570065	135	94247											
KCNH8	131096	broad.mit.edu	37	chr3	19322798	19322798	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagatacaaaagtgaagaTtactccagaagataaaaaag	23	6	7	5	0	0	5	0	1	0	4	1	5	1	5	1	0	3	0	1	0	10	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:19322798T>C	ENST00000328405.2	+	3	685	c.419T>C	c.(418-420)aTt>aCt	p.I140T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	140	PAC.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAAGTGAAGATTACTCCAGAA	0.323													33	96					0	0	0	0	C	19322798	T	C	19322798	3	2	489	1	0	0	0	0	1	0	0	0	8091	1493	52	5	429	5	KCNH8	3	19322798	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	8870433	19322798	178699632	136	94248											
NKIRAS1	28512	broad.mit.edu	37	chr3	23934657	23934657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgatttgctctggggttGagaaagtttactggctaata	9	15	12	5	0	1	2	0	2	1	1	1	3	1	2	0	3	2	5	0	3	4	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:23934657G>C	ENST00000443659.2	-	4	1285	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	NKIRAS1_ENST00000425478.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.Q170E			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	170					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CTCTGGGGTTGAGAAAGTTTA	0.398													28	99					0	0	0	0	C	23934657	G	C	23934657	3	2	489	1	0	0	0	0	1	0	0	0	10514	1299	45	2	74	2	NKIRAS1	3	23934657	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4611859	23934657	174087773	137	94249											
EOMES	8320	broad.mit.edu	37	chr3	27758815	27758815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctccttggagagctgatCttcagagaacacagtggggc	9	11	12	9	0	3	3	1	1	2	2	4	5	3	3	1	3	2	1	1	3	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:27758815C>T	ENST00000295743.4	-	6	2010	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	EOMES_ENST00000537516.1_Missense_Mutation_p.D327N|EOMES_ENST00000449599.1_Missense_Mutation_p.D622N			O95936	EOMES_HUMAN	eomesodermin	603	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAGAGCTGATCTTCAGAGAAC	0.493													19	86					0	0	0	0	T	27758815	C	T	27758815	3	4	489	1	0	0	0	0	1	0	0	0	5185	913	32	2	257	2	EOMES	3	27758815	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3824158	27758815	170263615	138	94250											
TRANK1	9881	broad.mit.edu	37	chr3	36873775	36873775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttgatgaggacattcatGaaacggaaaaagagcctctt	14	10	9	8	1	3	4	1	3	2	1	3	6	3	6	1	2	2	0	1	2	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:36873775G>A	ENST00000429976.2	-	21	7414	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F	TRANK1_ENST00000428977.2_Silent_p.F1839F|TRANK1_ENST00000301807.6_Silent_p.F1839F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2389					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGACATTCATGAAACGGAAAA	0.493													34	89					0	0	0	0	A	36873775	G	A	36873775	2	1	489	1	0	0	0	0	0	0	0	1	16549	1281	45	2		2	TRANK1	3	36873775	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	9114960	36873775	161148655	139	94251											
OXSR1	9943	broad.mit.edu	37	chr3	38287675	38287675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacagccaactcaagtctCtctcccacccaccgcagagc	11	6	5	19	1	3	1	1	0	2	1	5	1	3	1	4	0	4	1	4	0	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:38287675C>A	ENST00000311806.3	+	13	1592	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	OXSR1_ENST00000446845.1_Missense_Mutation_p.S407Y	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	407					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.S407C(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACTCAAGTCTCTCTCCCACCC	0.493													11	59					6.40141e-05	6.49751e-05	1	0	A	38287675	C	A	38287675	3	1	489	1	0	0	0	0	1	0	0	0	11407	913	32	2	1270	2	OXSR1	3	38287675	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1413900	38287675	159734755	140	94252											
ZNF445	353274	broad.mit.edu	37	chr3	44489429	44489429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaaccctgagctgtaggtGagagctgccctatactgatt	10	11	10	10	0	1	3	1	3	0	1	1	4	1	3	2	1	5	3	2	1	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:44489429G>A	ENST00000425708.2	-	7	2075	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	ZNF445_ENST00000396077.2_Silent_p.L578L			P59923	ZN445_HUMAN	zinc finger protein 445	578					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGCTGTAGGTGAGAGCTGCCC	0.468													23	59					0	0	0	0	A	44489429	G	A	44489429	2	1	489	1	0	0	0	0	0	0	0	1	18013	1277	45	2		2	ZNF445	3	44489429	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6201754	44489429	153533001	141	94253											
CCRL2	9034	broad.mit.edu	37	chr3	46449886	46449886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgatcccatgtgtaaaattCtcattggactgtacttcgtg	9	14	9	9	2	1	0	1	0	1	0	4	2	2	1	1	1	1	2	1	1	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:46449886C>T	ENST00000399036.3	+	2	668	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	ACKR5_ENST00000400880.3_Missense_Mutation_p.L106F|ACKR5_ENST00000357392.4_Missense_Mutation_p.L118F|ACKR5_ENST00000400882.2_Missense_Mutation_p.L106F	NM_003965.4	NP_003956.2																					GTGTAAAATTCTCATTGGACT	0.433													28	103					0	0	0	0	T	46449886	C	T	46449886	3	4	489	1	0	0	0	0	1	0	0	0	2979	913	32	2	358	2	CCRL2	3	46449886	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1960457	46449886	151572544	142	94254											
LAMB2	3913	broad.mit.edu	37	chr3	49160617	49160617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtatgggcagagagcttgCcaagtgcccgctggttggcc	6	8	17	10	1	0	1	0	0	0	1	0	2	0	1	3	4	3	5	3	4	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49160617C>T	ENST00000418109.1	-	27	4336	c.4172G>A	c.(4171-4173)gGc>gAc	p.G1391D	LAMB2_ENST00000305544.4_Missense_Mutation_p.G1391D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1391	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGAGCTTGCCAAGTGCCCG	0.562													4	106					0	0	0	0	T	49160617	C	T	49160617	3	4	489	1	0	0	0	0	1	0	0	0	8664	739	26	4	1252	4	LAMB2	3	49160617	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2710731	49160617	148861813	143	94255											
GPX1	2876	broad.mit.edu	37	chr3	49395180	49395180	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcttcgttcttggcgttctCctacaggagagaagggcagc	7	11	12	11	2	3	1	0	0	3	1	5	3	3	2	1	3	2	3	1	3	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49395180C>G	ENST00000419783.1	-	2	574	c.252_splice	c.e2-1	p.E85_splice	GPX1_ENST00000419349.1_3'UTR|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	85					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	TTGGCGTTCTCCTACAGGAGA	0.517													5	63					0	0	0	0	G	49395180	C	G	49395180	5	3	489	1	0	0	0	0	0	0	1	0	6789	869	30	2	362	2	GPX1	3	49395180	Splice_Site	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	234563	49395180	148627250	144	94256											
RHOA	387	broad.mit.edu	37	chr3	49397790	49397790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatcctgtttgccatatctCtgccttcttcaggtttcacc	6	16	5	14	0	4	0	2	0	2	0	6	0	5	0	4	1	2	2	4	1	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49397790C>G	ENST00000418115.1	-	5	818	c.434G>C	c.(433-435)aGa>aCa	p.R145T	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	145					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TGCCATATCTCTGCCTTCTTC	0.403													38	104					0	0	0	0	G	49397790	C	G	49397790	3	3	489	1	0	0	0	0	1	0	0	0	13414	913	32	2	151	2	RHOA	3	49397790	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2610	49397790	148624640	145	94257											
TRAIP	10293	broad.mit.edu	37	chr3	49885617	49885617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtccgacttggtgctgtctCaaaccactgaattaggctgg	8	11	12	10	1	1	1	1	1	1	0	3	2	2	1	2	4	2	2	2	4	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49885617C>G	ENST00000331456.2	-	2	228	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.E39Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	39					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTGCTGTCTCAAACCACTGA	0.512													6	21					0	0	0	0	G	49885617	C	G	49885617	3	3	489	1	0	0	0	0	1	0	0	0	16543	835	29	2	1350	2	TRAIP	3	49885617	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	487827	49885617	148136813	146	94258											
ITIH1	3697	broad.mit.edu	37	chr3	52823859	52823859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggaccaagctgtgctGcggcaggacgggtaacctgc	8	6	17	10	2	0	0	0	0	0	0	0	3	0	3	2	5	5	4	2	5	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:52823859G>A	ENST00000273283.2	+	19	2334	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Silent_p.L482L|ITIH1_ENST00000405128.3_Silent_p.L136L|ITIH1_ENST00000540715.1_Silent_p.L628L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	770	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AAGCTGTGCTGCGGCAGGACG	0.632													22	55					0	0	0	0	A	52823859	G	A	52823859	2	1	489	1	0	0	0	0	0	0	0	1	7956	1306	46	4		4	ITIH1	3	52823859	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2938242	52823859	145198571	147	94259											
PTPRG	5793	broad.mit.edu	37	chr3	62063842	62063842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattgttcttacagatgcaGattttcttttacaatccaga	12	17	5	7	0	2	3	0	0	2	3	3	3	3	3	1	0	3	2	1	0	4	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:62063842G>A	ENST00000474889.1	+	5	902	c.525G>A	c.(523-525)caG>caA	p.Q175Q	PTPRG_ENST00000295874.10_Silent_p.Q175Q	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	175	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACAGATGCAGATTTTCTTTT	0.308													13	55					0	0	0	0	A	62063842	G	A	62063842	2	1	489	1	0	0	0	0	0	0	0	1	12884	933	33	2		2	PTPRG	3	62063842	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	9239983	62063842	135958588	148	94260											
PTPRG	5793	broad.mit.edu	37	chr3	62254739	62254739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagtattggccaacagaGaacagtgaggaatatggaaa	17	7	12	5	0	1	2	1	1	0	1	1	6	1	4	1	3	2	1	1	3	6	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:62254739G>T	ENST00000474889.1	+	20	3281	c.2904G>T	c.(2902-2904)gaG>gaT	p.E968D	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.E939D|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	968	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGCCAACAGAGAACAGTGAGG	0.353													15	83					2.32078e-09	2.41703e-09	1	0	T	62254739	G	T	62254739	3	4	489	1	0	0	0	0	1	0	0	0	12884	933	33	2	2982	2	PTPRG	3	62254739	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	190897	62254739	135767691	149	94261											
DCBLD2	131566	broad.mit.edu	37	chr3	98568334	98568334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataacagagtatgaggccAaaaatccgcgtccagaaaca	17	6	8	10	2	0	3	0	1	0	2	2	3	2	3	3	1	2	1	3	1	6	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:98568334A>G	ENST00000326840.6	-	3	904	c.542T>C	c.(541-543)tTg>tCg	p.L181S	DCBLD2_ENST00000326857.9_Missense_Mutation_p.L181S|DCBLD2_ENST00000469648.1_5'UTR	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	181	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTATGAGGCCAAAAATCCGCG	0.348													24	97					0	0	0	0	G	98568334	A	G	98568334	3	3	489	1	0	0	0	0	1	0	0	0	4313	131	5	5	1841	5	DCBLD2	3	98568334	Missense_Mutation	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	36313595	98568334	99454096	150	94262											
CBLB	868	broad.mit.edu	37	chr3	105586266	105586266	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacttaccactttgtccatGagcttccaagtcttctccac	9	13	5	14	0	2	1	0	1	2	0	5	2	4	1	4	0	3	1	4	0	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:105586266G>C	ENST00000264122.4	-	2	477	c.156C>G	c.(154-156)ctC>ctG	p.L52L	CBLB_ENST00000394027.3_Silent_p.L74L|CBLB_ENST00000545639.1_Silent_p.L74L|CBLB_ENST00000403724.1_Silent_p.L52L|CBLB_ENST00000405772.1_Silent_p.L52L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	52	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTTTGTCCATGAGCTTCCAAG	0.438			Mis S		AML								33	159					0	0	0	0	C	105586266	G	C	105586266	2	2	489	1	0	0	0	0	0	0	0	1	2726	1277	45	2		2	CBLB	3	105586266	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	7017932	105586266	92436164	151	94263											
KIAA1407	57577	broad.mit.edu	37	chr3	113729643	113729643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattttttactggtggaccCaccatggctgttgcctcctc	5	14	8	14	0	0	0	0	0	0	0	2	1	1	1	5	3	2	2	5	3	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:113729643C>T	ENST00000295878.3	-	9	1535	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	KIAA1407_ENST00000545063.1_Silent_p.V294V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	463										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTGGTGGACCCACCATGGCTG	0.473													34	164					0	0	0	0	T	113729643	C	T	113729643	2	4	489	1	0	0	0	0	0	0	0	1	8280	581	21	4		4	KIAA1407	3	113729643	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8143377	113729643	84292787	152	94264											
DRD3	1814	broad.mit.edu	37	chr3	113850160	113850160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcaactctcctcctctttCttggaagcctggtccaccca	6	14	5	16	0	4	0	1	0	3	0	7	1	6	1	5	2	2	0	5	2	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:113850160C>T	ENST00000383673.2	-	6	1241	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	DRD3_ENST00000467632.1_Missense_Mutation_p.E271K|DRD3_ENST00000460779.1_Missense_Mutation_p.E271K|DRD3_ENST00000295881.7_Missense_Mutation_p.E271K	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	271					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CCTCCTCTTTCTTGGAAGCCT	0.542													29	176					0	0	0	0	T	113850160	C	T	113850160	3	4	489	1	0	0	0	0	1	0	0	0	4794	922	32	2	399	2	DRD3	3	113850160	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	120517	113850160	84172270	153	94265											
POLQ	10721	broad.mit.edu	37	chr3	121206364	121206364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcctgtgataactgaagtGaaaagcttgtgtcactaata	14	12	8	7	0	1	3	1	3	0	0	2	3	2	3	1	0	2	1	1	0	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:121206364G>A	ENST00000264233.5	-	16	5542	c.5414C>T	c.(5413-5415)tCa>tTa	p.S1805L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1805					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAACTGAAGTGAAAAGCTTGT	0.378								DNA polymerases (catalytic subunits)					42	148					0	0	0	0	A	121206364	G	A	121206364	3	1	489	1	0	0	0	0	1	0	0	0	12280	1294	45	2	2418	2	POLQ	3	121206364	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	7356204	121206364	76816066	154	94266											
ILDR1	286676	broad.mit.edu	37	chr3	121725931	121725931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggcagaggtggtgtagtCacatttgaggatgatagagg	10	10	17	4	0	1	4	1	2	0	2	1	5	1	5	0	5	0	2	0	5	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:121725931C>T	ENST00000273691.3	-	2	241	c.136G>A	c.(136-138)Gac>Aac	p.D46N	ILDR1_ENST00000393631.1_Missense_Mutation_p.D46N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D58N|ILDR1_ENST00000344209.5_Missense_Mutation_p.D46N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	46	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTGGTGTAGTCACATTTGAGG	0.522													9	58					0	0	0	0	T	121725931	C	T	121725931	3	4	489	1	0	0	0	0	1	0	0	0	7762	826	29	2	1396	2	ILDR1	3	121725931	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	519567	121725931	76296499	155	94267											
PDIA5	10954	broad.mit.edu	37	chr3	122842924	122842924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctcccaggtgctggccggGatgaatgtctactcctctga	6	11	11	13	1	2	2	0	2	2	0	5	3	5	3	4	3	2	1	4	3	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:122842924G>A	ENST00000316218.7	+	9	716	c.621G>A	c.(619-621)ggG>ggA	p.G207G		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	207	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGCTGGCCGGGATGAATGTCT	0.572													8	46					0	0	0	0	A	122842924	G	A	122842924	2	1	489	1	0	0	0	0	0	0	0	1	11742	1161	41	2		2	PDIA5	3	122842924	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1116993	122842924	75179506	156	94268											
PLXNA1	5361	broad.mit.edu	37	chr3	126740945	126740945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgcaggccaatgtggaGaagtcgctgacactgttcgg	9	8	15	9	2	0	2	0	1	0	1	2	3	0	2	1	4	1	3	1	4	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:126740945G>A	ENST00000393409.2	+	21	4056	c.4056G>A	c.(4054-4056)gaG>gaA	p.E1352E	PLXNA1_ENST00000251772.4_Silent_p.E1329E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1352					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCAATGTGGAGAAGTCGCTGA	0.627													13	41					0	0	0	0	A	126740945	G	A	126740945	2	1	489	1	0	0	0	0	0	0	0	1	12191	933	33	2		2	PLXNA1	3	126740945	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3898021	126740945	71281485	157	94269											
TMCC1	23023	broad.mit.edu	37	chr3	129370616	129370616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatcttggagatgcgcGtctggcatgcctccagggcc	5	9	13	14	2	2	1	0	0	2	1	4	2	4	1	4	3	2	2	4	3	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:129370616G>A	ENST00000393238.3	-	6	2010	c.1670C>T	c.(1669-1671)aCg>aTg	p.T557M	TMCC1_ENST00000329333.5_Missense_Mutation_p.T378M|TMCC1_ENST00000432054.2_Missense_Mutation_p.T233M|TMCC1_ENST00000426664.2_Missense_Mutation_p.T443M	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	557						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGAGATGCGCGTCTGGCATGC	0.592													13	57					0	0	0	0	A	129370616	G	A	129370616	3	1	489	1	0	0	0	0	1	0	0	0	16086	1145	40	1	295	1	TMCC1	3	129370616	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2629671	129370616	68651814	158	94270											
NPHP3	27031	broad.mit.edu	37	chr3	132433961	132433961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatctcaggctgggtttCatctgtataaatgaggtaac	11	13	9	8	0	3	1	2	1	2	0	5	1	4	1	1	3	1	4	1	3	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:132433961C>T	ENST00000326682.8	-	5	1001	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	NPHP3_ENST00000337331.5_Missense_Mutation_p.E309K|NPHP3_ENST00000476742.1_5'UTR			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	309					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCTGGGTTTCATCTGTATAA	0.328													44	188					0	0	0	0	T	132433961	C	T	132433961	3	4	489	1	0	0	0	0	1	0	0	0	10650	835	29	2	3159	2	NPHP3	3	132433961	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3063345	132433961	65588469	159	94271											
RYK	6259	broad.mit.edu	37	chr3	133894574	133894574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaacaagtctctggagaggGcattgtctgtgatcttaact	10	12	12	7	0	3	2	0	1	3	1	4	4	3	3	0	3	2	1	0	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:133894574G>A	ENST00000427044.2	-	14	1497	c.887C>T	c.(886-888)gCc>gTc	p.A296V	RYK_ENST00000296084.4_Missense_Mutation_p.A486V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	482					corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TCTGGAGAGGGCATTGTCTGT	0.418													4	120					0	0	0	0	A	133894574	G	A	133894574	3	1	489	1	0	0	0	0	1	0	0	0	13852	1203	42	4	381	4	RYK	3	133894574	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1460613	133894574	64127856	160	94272											
STAG1	10274	broad.mit.edu	37	chr3	136141363	136141363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatattcttcactgcataaGatactataggttttactgca	12	16	6	7	0	2	1	1	0	1	1	2	1	2	1	0	1	4	4	0	1	7	10			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:136141363G>A	ENST00000383202.2	-	19	2182	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	STAG1_ENST00000536929.1_Silent_p.I226I|STAG1_ENST00000434713.2_Silent_p.I416I|STAG1_ENST00000236698.5_Silent_p.I642I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	642					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			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						CACTGCATAAGATACTATAGG	0.393													42	259					0	0	0	0	A	136141363	G	A	136141363	2	1	489	1	0	0	0	0	0	0	0	1	15332	932	33	2		2	STAG1	3	136141363	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2246789	136141363	61881067	161	94273											
TRPC1	7220	broad.mit.edu	37	chr3	142499837	142499837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagaatgaatttaagtcGtctaaaacttgctatcaaat	18	12	6	5	1	2	3	1	1	1	2	3	3	2	3	0	0	2	1	0	0	8	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:142499837G>A	ENST00000273482.6	+	5	1215	c.824G>A	c.(823-825)cGt>cAt	p.R275H	TRPC1_ENST00000476941.1_Missense_Mutation_p.R309H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	309					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R275H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATTTAAGTCGTCTAAAACTT	0.368													30	94					0	0	0	0	A	142499837	G	A	142499837	3	1	489	1	0	0	0	0	1	0	0	0	16673	1145	40	1	842	1	TRPC1	3	142499837	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6358474	142499837	55522593	162	94274											
CPA3	1359	broad.mit.edu	37	chr3	148614436	148614436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggataaagccaacgtgcaGagagaccatgctagctgtca	13	6	11	11	2	1	2	1	0	0	2	1	4	1	3	3	1	5	3	3	1	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148614436G>A	ENST00000296046.3	+	11	1248	c.1196G>A	c.(1195-1197)aGa>aAa	p.R399K	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	399					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCAACGTGCAGAGAGACCATG	0.418													57	81					0	0	0	0	A	148614436	G	A	148614436	3	1	489	1	0	0	0	0	1	0	0	0	3821	942	33	2	1238	2	CPA3	3	148614436	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6114599	148614436	49407994	163	94275											
HPS3	84343	broad.mit.edu	37	chr3	148857940	148857940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcagcaaagccttcagaGaccagatgtacattattgaa	15	10	7	9	0	2	3	2	1	0	2	2	4	2	3	2	0	3	2	2	0	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148857940G>A	ENST00000296051.2	+	2	507	c.367G>A	c.(367-369)Gac>Aac	p.D123N	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	123						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCCTTCAGAGACCAGATGTA	0.453									Hermansky-Pudlak syndrome				47	174					0	0	0	0	A	148857940	G	A	148857940	3	1	489	1	0	0	0	0	1	0	0	0	7390	942	33	2	373	2	HPS3	3	148857940	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	243504	148857940	49164490	164	94276											
HPS3	84343	broad.mit.edu	37	chr3	148858056	148858056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattagtcttatttagtttGaagtaccagatcattaatga	15	16	6	4	0	2	3	1	2	1	1	2	3	2	3	1	0	1	2	1	0	7	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148858056G>A	ENST00000296051.2	+	2	623	c.483G>A	c.(481-483)ttG>ttA	p.L161L	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	161						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATTTAGTTTGAAGTACCAGA	0.388									Hermansky-Pudlak syndrome				34	160					0	0	0	0	A	148858056	G	A	148858056	2	1	489	1	0	0	0	0	0	0	0	1	7390	1281	45	2		2	HPS3	3	148858056	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	116	148858056	49164374	165	94277											
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	12	11	11	7	1	2	3	2	2	0	1	2	3	2	3	1	2	1	2	1	2	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478													6	172					0	0	0	0	T	152554482	C	T	152554482	3	4	489	1	0	0	0	0	1	0	0	0	11417	739	26	4	913	4	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3696426	152554482	45467948	166	94278											
GPR149	344758	broad.mit.edu	37	chr3	154138881	154138881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactcccagtctgaaagatCtggtttctgactctcttcat	8	14	6	13	0	5	3	1	2	4	1	7	3	6	3	2	1	0	1	2	1	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:154138881C>G	ENST00000389740.2	-	3	1669	c.1570G>C	c.(1570-1572)Gat>Cat	p.D524H		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	524						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTGAAAGATCTGGTTTCTGA	0.393													23	127					0	0	0	0	G	154138881	C	G	154138881	3	3	489	1	0	0	0	0	1	0	0	0	6703	913	32	2	633	2	GPR149	3	154138881	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1584399	154138881	43883549	167	94279											
ZBBX	79740	broad.mit.edu	37	chr3	167016198	167016198	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaatctctcaagtccttGatattgttttgttataggct	11	17	7	6	0	2	2	1	1	1	1	4	2	3	2	1	1	0	3	1	1	6	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:167016198G>A	ENST00000392766.2	-	18	2114	c.1774C>T	c.(1774-1776)Caa>Taa	p.Q592*	ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q563*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q592*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	592						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAAGTCCTTGATATTGTTTT	0.299													78	155					0	0	0	0	A	167016198	G	A	167016198	4	1	489	1	0	0	0	0	0	1	0	0	17612	1299	45	2	644	2	ZBBX	3	167016198	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12877317	167016198	31006232	168	94280											
PDCD10	11235	broad.mit.edu	37	chr3	167413412	167413412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagaaacctcactctgtCattgatctcatctgggatct	9	13	7	12	0	6	2	3	1	4	1	7	3	6	3	1	1	2	1	1	1	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:167413412C>T	ENST00000392750.2	-	6	784	c.367G>A	c.(367-369)Gac>Aac	p.D123N	PDCD10_ENST00000487947.2_Missense_Mutation_p.D123N|PDCD10_ENST00000473645.2_Missense_Mutation_p.D123N|PDCD10_ENST00000461494.1_Missense_Mutation_p.D123N|PDCD10_ENST00000470131.1_Missense_Mutation_p.D123N|PDCD10_ENST00000471885.1_Missense_Mutation_p.D123N|PDCD10_ENST00000492396.1_Missense_Mutation_p.D60N|PDCD10_ENST00000497056.2_Missense_Mutation_p.D123N	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	123					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						CTCACTCTGTCATTGATCTCA	0.363													34	158					0	0	0	0	T	167413412	C	T	167413412	3	4	489	1	0	0	0	0	1	0	0	0	11687	826	29	2	287	2	PDCD10	3	167413412	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	397214	167413412	30609018	169	94281											
NAALADL2	254827	broad.mit.edu	37	chr3	175520802	175520802	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttttcagaaacatcctCtaccaccttgatgaaaagac	13	13	4	11	0	3	4	1	2	2	2	4	4	4	4	3	0	2	0	3	0	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:175520802C>G	ENST00000454872.1	+	14	2327	c.2199C>G	c.(2197-2199)ctC>ctG	p.L733L		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	733					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAAACATCCTCTACCACCTTG	0.373													8	40					0	0	0	0	G	175520802	C	G	175520802	2	3	489	1	0	0	0	0	0	0	0	1	10200	900	32	2		2	NAALADL2	3	175520802	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8107390	175520802	22501628	170	94282											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	66					0	0	0	0	A	178936082	G	A	178936082	3	1	489	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3415280	178936082	19086348	171	94283											
ZNF639	51193	broad.mit.edu	37	chr3	179050801	179050801	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattctgataccgagacgtCaaatgacttgccaaaatttg	13	12	8	8	2	2	4	1	3	1	1	2	5	2	4	2	0	2	0	2	0	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:179050801C>G	ENST00000326361.3	+	6	639	c.194C>G	c.(193-195)tCa>tGa	p.S65*	ZNF639_ENST00000496856.1_Nonsense_Mutation_p.S65*|ZNF639_ENST00000484866.1_Nonsense_Mutation_p.S65*|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	65					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			accgagacgtcaaatgacttg	0.358													4	7					0	0	0	0	G	179050801	C	G	179050801	4	3	489	1	0	0	0	0	0	1	0	0	18151	838	29	2	204	2	ZNF639	3	179050801	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	114719	179050801	18971629	172	94284											
YEATS2	55689	broad.mit.edu	37	chr3	183479317	183479317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggattctttgtttgcatCtatgccacctctttgcccaa	7	15	8	11	0	3	0	0	0	3	0	3	2	3	2	3	2	3	2	3	2	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:183479317C>A	ENST00000305135.5	+	14	1874	c.1679C>A	c.(1678-1680)tCt>tAt	p.S560Y		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	560					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGTTTGCATCTATGCCACCT	0.383													49	205					2.29192e-23	2.45682e-23	1	0	A	183479317	C	A	183479317	3	1	489	1	0	0	0	0	1	0	0	0	17568	913	32	2	1729	2	YEATS2	3	183479317	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4428516	183479317	14543113	173	94285											
RTP2	344892	broad.mit.edu	37	chr3	187416365	187416365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccagaagaggcaccagCgaagagacaagaagttgtag	16	3	14	8	1	0	4	0	0	0	4	0	6	0	4	2	2	1	3	2	2	5	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:187416365C>T	ENST00000358241.1	-	2	1027	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	200					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GAGGCACCAGCGAAGAGACAA	0.587													6	59					0	0	0	0	T	187416365	C	T	187416365	3	4	489	1	0	0	0	0	1	0	0	0	13819	768	27	1	82	1	RTP2	3	187416365	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3937048	187416365	10606065	174	94286											
ATP13A5	344905	broad.mit.edu	37	chr3	193082049	193082049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggctttccgtacattgtgGtcccggtaaccaaacacctc	10	10	8	13	2	0	0	0	0	0	0	3	0	2	0	4	3	3	3	4	3	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:193082049G>C	ENST00000342358.4	-	2	201	c.84C>G	c.(82-84)gaC>gaG	p.D28E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	28					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTACATTGTGGTCCCGGTAAC	0.448													9	224					0	0	0	0	C	193082049	G	C	193082049	3	2	489	1	0	0	0	0	1	0	0	0	1131	1252	44	4	3686	4	ATP13A5	3	193082049	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5665684	193082049	4940381	175	94287											
MFI2	4241	broad.mit.edu	37	chr3	196737593	196737593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atagtgctccccggctgcggGaaccaggccgtacgtcttcc	6	8	12	15	4	1	0	0	0	1	0	3	1	3	1	5	3	4	3	5	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:196737593G>A	ENST00000296350.5	-	10	1419	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	436	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCGGCTGCGGGAACCAGGCCG	0.607													10	60					0	0	0	0	A	196737593	G	A	196737593	3	1	489	1	0	0	0	0	1	0	0	0	9591	1174	41	2	938	2	MFI2	3	196737593	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3655544	196737593	1284837	176	94288											
DLG1	1739	broad.mit.edu	37	chr3	196771544	196771544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagaaccagattgttcttCtatgatctgtttcacttggt	9	17	8	7	0	4	3	1	1	3	2	4	3	4	3	1	1	1	3	1	1	3	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:196771544C>T	ENST00000346964.2	-	26	2920	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	DLG1_ENST00000452595.1_Missense_Mutation_p.E773K|DLG1_ENST00000450955.1_Missense_Mutation_p.E878K|DLG1_ENST00000448528.2_Missense_Mutation_p.E889K|DLG1_ENST00000443183.1_Missense_Mutation_p.E785K|DLG1_ENST00000357674.4_Missense_Mutation_p.E878K|DLG1_ENST00000422288.1_Missense_Mutation_p.E838K|DLG1_ENST00000419354.1_Missense_Mutation_p.E889K|DLG1_ENST00000392382.2_Missense_Mutation_p.E856K|DLG1_ENST00000314062.3_Missense_Mutation_p.E838K	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	889					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GATTGTTCTTCTATGATCTGT	0.363													32	130					0	0	0	0	T	196771544	C	T	196771544	3	4	489	1	0	0	0	0	1	0	0	0	4591	922	32	2	53	2	DLG1	3	196771544	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	33951	196771544	1250886	177	94289											
FGFR3	2261	broad.mit.edu	37	chr4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggcatcctcagctacGgggtgggcttcttcctgttc	5	12	12	12	1	2	0	1	0	1	0	5	0	4	0	2	4	3	5	2	4	1	4	rs28931614		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:1806119G>A	ENST00000340107.4	+	9	1400	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.G380R	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	380					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G380R(13)|p.G382R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTCAGCTACGGGGTGGGCTT	0.672		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				43	163					0	0	0	0	A	1806119	G	A	1806119	3	1	489	1	0	0	0	0	1	0	0	0	5912	1116	39	1	1323	1	FGFR3	4	1806119	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		1806119	189348157	178	94290											
HTT	3064	broad.mit.edu	37	chr4	3240619	3240619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgtccctctccaacttCacgcagagggccccggtcgc	6	8	10	17	3	2	1	1	0	1	1	5	1	3	1	4	2	2	2	4	2	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:3240619C>T	ENST00000355072.5	+	66	9274	c.9129C>T	c.(9127-9129)ttC>ttT	p.F3043F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	3043					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTCCAACTTCACGCAGAGGG	0.642													5	14					0	0	0	0	T	3240619	C	T	3240619	2	4	489	1	0	0	0	0	0	0	0	1	7510	825	29	2		2	HTT	4	3240619	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1434500	3240619	187913657	179	94291											
RGS12	6002	broad.mit.edu	37	chr4	3427279	3427279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggagaaggatccttccaGaggaaagggtgagtagggct	12	6	18	5	0	0	3	0	1	0	2	2	7	2	6	2	6	0	2	2	6	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:3427279G>C	ENST00000336727.3	+	14	4227	c.3323G>C	c.(3322-3324)aGa>aCa	p.R1108T	RGS12_ENST00000306648.7_Missense_Mutation_p.R506T|RGS12_ENST00000538395.1_Missense_Mutation_p.R450T|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.R1108T|RGS12_ENST00000344733.5_Missense_Mutation_p.R1108T|RGS12_ENST00000338806.4_Missense_Mutation_p.R460T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1108						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATCCTTCCAGAGGAAAGGGT	0.632													24	99					0	0	0	0	C	3427279	G	C	3427279	3	2	489	1	0	0	0	0	1	0	0	0	13378	942	33	2	3431	2	RGS12	4	3427279	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	186660	3427279	187726997	180	94292											
AFAP1	60312	broad.mit.edu	37	chr4	7870384	7870384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctccggcaggggcatctGaggaggggctggcaggctgt	6	7	19	9	1	2	1	0	1	2	0	3	3	2	2	1	8	0	5	1	8	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:7870384G>C	ENST00000420658.1	-	3	462	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	AFAP1_ENST00000360265.4_Missense_Mutation_p.Q64E|AFAP1_ENST00000382543.3_Missense_Mutation_p.Q64E|AFAP1_ENST00000358461.2_Missense_Mutation_p.Q64E	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	64	Pro-rich.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGGGCATCTGAGGAGGGGCT	0.577													12	40					0	0	0	0	C	7870384	G	C	7870384	3	2	489	1	0	0	0	0	1	0	0	0	353	1299	45	2	2318	2	AFAP1	4	7870384	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4443105	7870384	183283892	181	94293											
SH3TC1	54436	broad.mit.edu	37	chr4	8229622	8229622	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctgtgtcaaggtggcctCattgcggacacggggctcgc	6	8	16	11	3	2	0	2	0	0	0	3	2	2	1	1	5	2	2	1	5	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:8229622C>G	ENST00000539824.1	+	12	2347	c.1973C>G	c.(1972-1974)tCa>tGa	p.S658*	SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.S734*			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	734							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGGTGGCCTCATTGCGGACA	0.657													13	51					0	0	0	0	G	8229622	C	G	8229622	4	3	489	1	0	0	0	0	0	1	0	0	14349	838	29	2	2243	2	SH3TC1	4	8229622	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	359238	8229622	182924654	182	94294											
FGFBP2	83888	broad.mit.edu	37	chr4	15964242	15964242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtttggcttttcccagctCttccatcgagtcctttccca	4	15	8	14	1	1	0	0	0	1	0	6	1	5	0	4	2	1	3	4	2	0	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:15964242C>G	ENST00000259989.6	-	1	617	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	171						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTCCCAGCTCTTCCATCGAG	0.597													31	156					0	0	0	0	G	15964242	C	G	15964242	3	3	489	1	0	0	0	0	1	0	0	0	5906	922	32	2	164	2	FGFBP2	4	15964242	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7734620	15964242	175190034	183	94295											
FGFBP2	83888	broad.mit.edu	37	chr4	15964323	15964323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagatggcgtcccagcctCaggctgctggttgggctctg	5	9	15	12	1	2	1	1	0	1	1	3	2	3	1	2	4	2	4	2	4	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:15964323C>G	ENST00000259989.6	-	1	536	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	144						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTCCCAGCCTCAGGCTGCTGG	0.607													23	103					0	0	0	0	G	15964323	C	G	15964323	3	3	489	1	0	0	0	0	1	0	0	0	5906	835	29	2	245	2	FGFBP2	4	15964323	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	81	15964323	175189953	184	94296											
SLIT2	9353	broad.mit.edu	37	chr4	20530631	20530631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcggatctggcttgccctGaaaagtgtcgctgtgaagga	8	11	14	8	2	1	2	0	2	1	0	2	4	1	4	1	3	2	2	1	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:20530631G>A	ENST00000504154.1	+	16	1774	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SLIT2_ENST00000503823.1_Missense_Mutation_p.E500K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E512K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E504K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	508	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTTGCCCTGAAAAGTGTCG	0.408													22	123					0	0	0	0	A	20530631	G	A	20530631	3	1	489	1	0	0	0	0	1	0	0	0	14828	1291	45	2	1584	2	SLIT2	4	20530631	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4566308	20530631	170623645	185	94297											
DHX15	1665	broad.mit.edu	37	chr4	24550530	24550530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggaggctcaaaaatgCgttgctgctgctgaggtgga	9	9	17	6	1	1	1	1	1	0	0	1	4	1	3	0	5	4	5	0	5	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:24550530C>T	ENST00000336812.4	-	6	1352	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	399	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CTCAAAAATGCGTTGCTGCTG	0.363													17	75					0	0	0	0	T	24550530	C	T	24550530	3	4	489	1	0	0	0	0	1	0	0	0	4538	768	27	1	1227	1	DHX15	4	24550530	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4019899	24550530	166603746	186	94298											
ZCCHC4	29063	broad.mit.edu	37	chr4	25363538	25363538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacaggtcgaaaacagtctCccgtgcgtattttcaccaac	12	9	8	12	3	2	1	1	0	1	1	4	2	2	1	2	1	3	1	2	1	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:25363538C>T	ENST00000302874.4	+	9	1093	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	357							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAACAGTCTCCCGTGCGTAT	0.368													8	55					0	0	0	0	T	25363538	C	T	25363538	3	4	489	1	0	0	0	0	1	0	0	0	17685	855	30	2	1103	2	ZCCHC4	4	25363538	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	813008	25363538	165790738	187	94299											
TBC1D1	23216	broad.mit.edu	37	chr4	38051364	38051364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagccagctccgctgtcGccccagcaggccttcaggag	8	5	13	15	2	1	1	1	0	0	1	3	3	2	2	5	2	3	3	5	2	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38051364G>A	ENST00000261439.4	+	11	2110	c.1755G>A	c.(1753-1755)tcG>tcA	p.S585S	TBC1D1_ENST00000508802.1_Silent_p.S585S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	585						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTCCGCTGTCGCCCCAGCAGG	0.632													19	94					0	0	0	0	A	38051364	G	A	38051364	2	1	489	1	0	0	0	0	0	0	0	1	15688	1074	38	1		1	TBC1D1	4	38051364	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12687826	38051364	153102912	188	94300											
KLF3	51274	broad.mit.edu	37	chr4	38690408	38690408	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctctgaagttcccgtcctCacaccggagagcctcgcctg	6	9	9	17	3	2	2	1	1	1	1	6	3	4	2	5	1	1	1	5	1	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38690408C>G	ENST00000261438.5	+	3	565	c.260C>G	c.(259-261)tCa>tGa	p.S87*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.S87*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	87	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TTCCCGTCCTCACACCGGAGA	0.602													16	53					0	0	0	0	G	38690408	C	G	38690408	4	3	489	1	0	0	0	0	0	1	0	0	8399	838	29	2	266	2	KLF3	4	38690408	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	639044	38690408	152463868	189	94301											
TLR1	7096	broad.mit.edu	37	chr4	38800263	38800263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgacagtgataagatgtCagaagtccaaagctcagata	15	11	9	6	0	2	5	2	2	0	3	3	5	3	5	1	0	1	1	1	0	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38800263C>T	ENST00000308979.2	-	4	463	c.190G>A	c.(190-192)Gac>Aac	p.D64N	TLR1_ENST00000502213.2_Missense_Mutation_p.D64N	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	64					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GATAAGATGTCAGAAGTCCAA	0.328													42	207					0	0	0	0	T	38800263	C	T	38800263	3	4	489	1	0	0	0	0	1	0	0	0	16043	826	29	2	2174	2	TLR1	4	38800263	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	109855	38800263	152354013	190	94302											
RBM47	54502	broad.mit.edu	37	chr4	40439927	40439927	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccgcccctggctgccttCtggtagcgcgagtactgctc	3	9	12	17	4	1	0	0	0	1	0	2	1	1	0	5	2	4	4	5	2	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:40439927C>T	ENST00000319592.4	-	4	1693	c.984G>A	c.(982-984)caG>caA	p.Q328Q	RBM47_ENST00000381793.2_Silent_p.Q328Q|RBM47_ENST00000514014.1_Silent_p.Q290Q|RBM47_ENST00000295971.7_Silent_p.Q328Q|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.Q328Q			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	328						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGGCTGCCTTCTGGTAGCGCG	0.652													14	46					0	0	0	0	T	40439927	C	T	40439927	2	4	489	1	0	0	0	0	0	0	0	1	13223	912	32	2		2	RBM47	4	40439927	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1639664	40439927	150714349	191	94303											
ATP8A1	10396	broad.mit.edu	37	chr4	42457368	42457368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtataattcagggtacttCaacatgttctcttttctgca	9	18	6	8	0	4	0	2	0	2	0	5	0	4	0	0	1	3	4	0	1	4	9			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:42457368C>A	ENST00000381668.5	-	29	2994	c.2763G>T	c.(2761-2763)ttG>ttT	p.L921F	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L906F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	921					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAGGGTACTTCAACATGTTCT	0.433													30	87					2.12542e-12	2.24548e-12	1	0	A	42457368	C	A	42457368	3	1	489	1	0	0	0	0	1	0	0	0	1196	825	29	2	767	2	ATP8A1	4	42457368	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2017441	42457368	148696908	192	94304											
GSX2	170825	broad.mit.edu	37	chr4	54967927	54967927	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgaaaatctggtttcaGaaccgccgagtgaagcacaa	14	7	11	9	2	2	3	1	2	1	1	2	4	2	3	2	2	2	2	2	2	5	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:54967927G>C	ENST00000326902.2	+	2	1067	c.753G>C	c.(751-753)caG>caC	p.Q251H	GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	251						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCTGGTTTCAGAACCGCCGAG	0.567													24	112					0	0	0	0	C	54967927	G	C	54967927	3	2	489	1	0	0	0	0	1	0	0	0	6900	933	33	2	759	2	GSX2	4	54967927	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12510559	54967927	136186349	193	94305											
EXOC1	55763	broad.mit.edu	37	chr4	56759928	56759928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttttggtgactgtcaaaagGaactttgacaaatgcattgt	12	14	10	5	0	1	2	1	2	0	0	1	3	1	3	0	2	2	2	0	2	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:56759928G>C	ENST00000381295.2	+	15	2283	c.1935G>C	c.(1933-1935)agG>agC	p.R645S	EXOC1_ENST00000349598.6_Missense_Mutation_p.R630S|EXOC1_ENST00000346134.7_Missense_Mutation_p.R645S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	645					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTGTCAAAAGGAACTTTGACA	0.333													16	72					0	0	0	0	C	56759928	G	C	56759928	3	2	489	1	0	0	0	0	1	0	0	0	5338	1165	41	2	1989	2	EXOC1	4	56759928	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1792001	56759928	134394348	194	94306											
UGT2B10	7365	broad.mit.edu	37	chr4	69683801	69683801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgacatatggcttatgcGaaactcctggaattttaaat	13	13	8	7	1	0	1	0	1	0	0	1	3	1	2	1	2	3	2	1	2	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:69683801G>A	ENST00000265403.7	+	2	800	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R174Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	258					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGGCTTATGCGAAACTCCTGG	0.383													52	203					0	0	0	0	A	69683801	G	A	69683801	3	1	489	1	0	0	0	0	1	0	0	0	17052	1058	37	1	779	1	UGT2B10	4	69683801	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12923873	69683801	121470475	195	94307											
C4orf40	401137	broad.mit.edu	37	chr4	71024498	71024498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggcacctgttgcagctGagcctgctgcagaggcacct	8	7	13	13	0	0	3	0	1	0	2	0	3	0	3	3	2	5	7	3	2	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:71024498G>A	ENST00000344526.5	+	3	718	c.529G>A	c.(529-531)Gag>Aag	p.E177K	C4orf40_ENST00000502294.1_Missense_Mutation_p.E177K	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	177	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGTTGCAGCTGAGCCTGCTGC	0.637													17	42					0	0	0	0	A	71024498	G	A	71024498	3	1	489	1	0	0	0	0	1	0	0	0	2290	1291	45	2	539	2	C4orf40	4	71024498	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1340697	71024498	120129778	196	94308											
ANKRD17	26057	broad.mit.edu	37	chr4	74010539	74010539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggagttcttccaccttcaGattcatgttcctgtttaaaa	11	15	6	9	0	3	1	2	0	1	1	5	2	5	2	3	1	0	3	3	1	3	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:74010539G>C	ENST00000358602.4	-	11	1996	c.1880C>G	c.(1879-1881)tCt>tGt	p.S627C	ANKRD17_ENST00000509867.2_Missense_Mutation_p.S514C|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S627C|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	627					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCACCTTCAGATTCATGTTC	0.313													21	70					0	0	0	0	C	74010539	G	C	74010539	3	2	489	1	0	0	0	0	1	0	0	0	646	942	33	2	6027	2	ANKRD17	4	74010539	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2986041	74010539	117143737	197	94309											
ALB	213	broad.mit.edu	37	chr4	74274350	74274350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattatgcacagttgcaactCttcgtgaaacctatggtgaa	13	12	8	8	1	1	2	0	2	1	0	2	2	1	2	1	1	4	3	1	1	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:74274350C>G	ENST00000295897.4	+	4	399	c.310C>G	c.(310-312)Ctt>Gtt	p.L104V	ALB_ENST00000509063.1_Missense_Mutation_p.L104V|ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000415165.2_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	104	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGTTGCAACTCTTCGTGAAAC	0.413													13	67					0	0	0	0	G	74274350	C	G	74274350	3	3	489	1	0	0	0	0	1	0	0	0	486	913	32	2	324	2	ALB	4	74274350	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	263811	74274350	116879926	198	94310											
NUP54	53371	broad.mit.edu	37	chr4	77053825	77053825	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtagctggaactcttcttGaagtaccatttggcgaacgc	9	13	10	9	2	2	1	0	1	2	0	2	3	2	2	1	2	4	3	1	2	5	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:77053825G>C	ENST00000264883.3	-	6	898	c.758C>G	c.(757-759)tCa>tGa	p.S253*	NUP54_ENST00000514987.1_Nonsense_Mutation_p.S205*|NUP54_ENST00000342467.6_Nonsense_Mutation_p.S73*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.S73*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	253	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AACTCTTCTTGAAGTACCATT	0.373													27	90					0	0	0	0	C	77053825	G	C	77053825	4	2	489	1	0	0	0	0	0	1	0	0	10838	1294	45	2	793	2	NUP54	4	77053825	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2779475	77053825	114100451	199	94311											
SEPT11	55752	broad.mit.edu	37	chr4	77941766	77941766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactatgaattgtaccgacGctgtaagcttgaagagatgg	12	10	11	8	2	0	3	0	2	0	1	0	5	0	3	2	1	2	4	2	1	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:77941766G>A	ENST00000264893.6	+	7	1097	c.896G>A	c.(895-897)cGc>cAc	p.R299H	SEPT11_ENST00000541121.1_Missense_Mutation_p.R309H|SEPT11_ENST00000505788.1_Missense_Mutation_p.R299H|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Missense_Mutation_p.R299H|SEPT11_ENST00000510515.1_Missense_Mutation_p.R309H	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	299					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TTGTACCGACGCTGTAAGCTT	0.507													3	29					0	0	0	0	A	77941766	G	A	77941766	3	1	489	1	0	0	0	0	1	0	0	0	14148	1087	38	1	922	1	SEPT11	4	77941766	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	887941	77941766	113212510	200	94312											
CNOT6L	246175	broad.mit.edu	37	chr4	78663422	78663422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaatgctggcagaaagaGagtgaagtattgctctgttt	11	13	11	6	0	2	3	1	1	1	2	2	4	2	3	0	1	2	5	0	1	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:78663422G>C	ENST00000504123.1	-	8	875	c.745C>G	c.(745-747)Ctc>Gtc	p.L249V	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.L249V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	249					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGCAGAAAGAGAGTGAAGTAT	0.388													3	23					0	0	0	0	C	78663422	G	C	78663422	3	2	489	1	0	0	0	0	1	0	0	0	3653	942	33	2	942	2	CNOT6L	4	78663422	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	721656	78663422	112490854	201	94313											
FRAS1	80144	broad.mit.edu	37	chr4	79351553	79351553	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcatacagctgagttcCgaaggccgatggccacaggt	11	8	12	10	2	0	1	0	1	0	0	1	3	1	1	3	3	3	3	3	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:79351553C>T	ENST00000264895.6	+	37	5391	c.4951C>T	c.(4951-4953)Cga>Tga	p.R1651*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.R1651*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1650					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCTGAGTTCCGAAGGCCGAT	0.498													8	26					0	0	0	0	T	79351553	C	T	79351553	4	4	489	1	0	0	0	0	0	1	0	0	6089	644	23	1	5097	1	FRAS1	4	79351553	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	688131	79351553	111802723	202	94314											
FAM175A	84142	broad.mit.edu	37	chr4	84383664	84383664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattcaccaaaacccttcatCttttcaatttcttcatctgt	10	18	1	12	0	7	0	4	0	3	0	7	0	7	0	2	0	1	0	2	0	4	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:84383664C>G	ENST00000321945.7	-	9	1296	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.K347N	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	396					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AACCCTTCATCTTTTCAATTT	0.358													53	184					0	0	0	0	G	84383664	C	G	84383664	3	3	489	1	0	0	0	0	1	0	0	0	5538	912	32	2	45	2	FAM175A	4	84383664	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5032111	84383664	106770612	203	94315											
MMRN1	22915	broad.mit.edu	37	chr4	90857467	90857467	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcataccttattatatttCagttaaaaaaggcagtgtag	14	14	7	6	0	2	0	2	0	0	0	2	0	2	0	1	1	1	4	1	1	8	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:90857467C>A	ENST00000394980.1	+	7	2955	c.2636C>A	c.(2635-2637)tCa>tAa	p.S879*	MMRN1_ENST00000264790.2_Nonsense_Mutation_p.S879*|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.S621*			Q13201	MMRN1_HUMAN	multimerin 1	879					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTATATTTCAGTTAAAAAA	0.353													11	77					3.86212e-05	3.92917e-05	1	0	A	90857467	C	A	90857467	4	1	489	1	0	0	0	0	0	1	0	0	9740	838	29	2	2658	2	MMRN1	4	90857467	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6473803	90857467	100296809	204	94316											
BMPR1B	658	broad.mit.edu	37	chr4	96046263	96046263	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaggaagtggatcaggcctCcctctgctggtatgagaaga	10	9	13	9	0	3	2	2	1	1	2	4	5	4	4	2	4	1	2	2	4	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:96046263C>G	ENST00000515059.1	+	8	859	c.576C>G	c.(574-576)ctC>ctG	p.L192L	BMPR1B_ENST00000264568.4_Silent_p.L192L|BMPR1B_ENST00000440890.2_Silent_p.L222L|BMPR1B_ENST00000394931.1_Silent_p.L192L	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	192	GS.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATCAGGCCTCCCTCTGCTGG	0.423													13	74					0	0	0	0	G	96046263	C	G	96046263	2	3	489	1	0	0	0	0	0	0	0	1	1475	842	30	2		2	BMPR1B	4	96046263	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5188796	96046263	95108013	205	94317											
TBCK	93627	broad.mit.edu	37	chr4	107092323	107092323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttctgcctccactgctgtCagaagatggctttggaggtt	7	13	11	10	0	2	2	1	0	1	2	3	3	3	3	2	3	2	3	2	3	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:107092323C>G	ENST00000273980.4	-	24	2611	c.2164G>C	c.(2164-2166)Gac>Cac	p.D722H	TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Missense_Mutation_p.D722H|TBCK_ENST00000394706.3_Missense_Mutation_p.D683H|TBCK_ENST00000361687.4_Missense_Mutation_p.D659H|TBCK_ENST00000394708.2_Missense_Mutation_p.D722H			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	722						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CCACTGCTGTCAGAAGATGGC	0.443													32	83					0	0	0	0	G	107092323	C	G	107092323	3	3	489	1	0	0	0	0	1	0	0	0	15730	826	29	2	533	2	TBCK	4	107092323	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	11046060	107092323	84061953	206	94318											
AP1AR	55435	broad.mit.edu	37	chr4	113189560	113189560	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgacacagatcaacagactCgatagggtaaaattgtgtga	15	9	10	7	1	1	4	1	2	0	2	2	5	1	4	0	1	1	1	0	1	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:113189560C>T	ENST00000274000.5	+	10	1259	c.904C>T	c.(904-906)Cga>Tga	p.R302*	AP1AR_ENST00000309703.6_Nonsense_Mutation_p.R269*	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	302					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TCAACAGACTCGATAGGGTAA	0.358													17	67					0	0	0	0	T	113189560	C	T	113189560	4	4	489	1	0	0	0	0	0	1	0	0	731	876	31	1	942	1	AP1AR	4	113189560	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6097237	113189560	77964716	207	94319											
ALPK1	80216	broad.mit.edu	37	chr4	113352354	113352354	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttcgagtctccttggatCaagatgtggagactgagact	10	12	11	8	1	2	3	1	1	1	3	4	7	2	4	1	2	0	0	1	2	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:113352354C>T	ENST00000458497.1	+	11	1930	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	ALPK1_ENST00000177648.9_Nonsense_Mutation_p.Q551*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.Q473*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	551							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCCTTGGATCAAGATGTGGA	0.493													24	59					0	0	0	0	T	113352354	C	T	113352354	4	4	489	1	0	0	0	0	0	1	0	0	544	827	29	2	1685	2	ALPK1	4	113352354	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	162794	113352354	77801922	208	94320											
ANK2	287	broad.mit.edu	37	chr4	114158255	114158255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgccagctctgcatattgCcgctaggaaagacgacacca	11	7	10	13	2	1	1	0	0	1	1	1	3	1	2	3	1	4	4	3	1	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:114158255C>T	ENST00000357077.4	+	6	649	c.596C>T	c.(595-597)gCc>gTc	p.A199V	ANK2_ENST00000264366.6_Missense_Mutation_p.A199V|ANK2_ENST00000394537.3_Missense_Mutation_p.A199V|ANK2_ENST00000506722.1_Missense_Mutation_p.A178V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	199					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCATATTGCCGCTAGGAAA	0.512													4	151					0	0	0	0	T	114158255	C	T	114158255	3	4	489	1	0	0	0	0	1	0	0	0	621	739	26	4	643	4	ANK2	4	114158255	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	805901	114158255	76996021	209	94321											
IL21	59067	broad.mit.edu	37	chr4	123542073	123542073	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaatcatgtggcgatcttGaccttgggagcttgatttgt	7	16	11	7	1	3	2	1	2	2	0	3	4	3	3	1	2	1	1	1	2	1	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:123542073G>A	ENST00000264497.3	-	1	151	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	25					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGGCGATCTTGACCTTGGGAG	0.408													38	101					0	0	0	0	A	123542073	G	A	123542073	4	1	489	1	0	0	0	0	0	1	0	0	7723	1299	45	2	414	2	IL21	4	123542073	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	9383818	123542073	67612203	210	94322											
PCDH10	57575	broad.mit.edu	37	chr4	134073076	134073076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgctgccccgctcggCggagccgggttacctgctca	4	8	15	14	4	1	1	1	1	0	0	2	2	1	2	4	4	5	4	4	4	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:134073076C>T	ENST00000264360.4	+	1	2607	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	594	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCGCTCGGCGGAGCCGGGT	0.652													12	47					0	0	0	0	T	134073076	C	T	134073076	3	4	489	1	0	0	0	0	1	0	0	0	11578	768	27	1	1783	1	PCDH10	4	134073076	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	10531003	134073076	57081200	211	94323											
MAML3	55534	broad.mit.edu	37	chr4	140810661	140810661	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgttgctgttgctgctgctg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:140810661C>T	ENST00000509479.2	-	2	2785	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	MAML3_ENST00000398940.1_Silent_p.Q171Q|MAML3_ENST00000327122.5_Silent_p.Q487Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	639	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgttgctgtt	0.587													5	94					0	0	0	0	T	140810661	C	T	140810661	2	4	489	1	0	0	0	0	0	0	0	1	9276	796	28	4		4	MAML3	4	140810661	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6737585	140810661	50343615	212	94324											
SMARCA5	8467	broad.mit.edu	37	chr4	144457757	144457757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggtccaccttatacaaCagatatgcatctagtaacca	14	10	5	12	0	1	1	0	0	1	1	2	1	2	1	4	1	4	2	4	1	6	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:144457757C>T	ENST00000283131.3	+	11	1883	c.1421C>T	c.(1420-1422)aCa>aTa	p.T474I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	474					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCTTATACAACAGATATGCAT	0.383													15	65					0	0	0	0	T	144457757	C	T	144457757	3	4	489	1	0	0	0	0	1	0	0	0	14859	478	17	4	1463	4	SMARCA5	4	144457757	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3647096	144457757	46696519	213	94325											
C4orf27	54969	broad.mit.edu	37	chr4	170663146	170663146	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcacggttctctgttCaagcgagtaccccaattctc	8	13	6	14	2	5	0	2	0	3	0	7	1	5	0	2	1	2	3	2	1	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170663146C>A	ENST00000393381.2	-	5	685	c.610G>T	c.(610-612)Gaa>Taa	p.E204*		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	204						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GTTCTCTGTTCAAGCGAGTAC	0.358													16	123					1.5739e-10	1.6509e-10	1	0	A	170663146	C	A	170663146	4	1	489	1	0	0	0	0	0	1	0	0	2279	835	29	2	446	2	C4orf27	4	170663146	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	26205389	170663146	20491130	214	94326											
C4orf27	54969	broad.mit.edu	37	chr4	170663224	170663224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagattgattttctttttatCcgttatttctctaagttttt	7	24	5	5	1	2	2	0	1	2	1	4	3	3	2	1	0	0	2	1	0	3	11			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170663224C>T	ENST00000393381.2	-	5	607	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	178						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTCTTTTTATCCGTTATTTCT	0.358													20	107					0	0	0	0	T	170663224	C	T	170663224	3	4	489	1	0	0	0	0	1	0	0	0	2279	855	30	2	524	2	C4orf27	4	170663224	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	78	170663224	20491052	215	94327											
AADAT	51166	broad.mit.edu	37	chr4	170983104	170983104	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagtaagggctaggagctGagctatcgacgtagaaagca	14	7	13	7	2	1	2	1	1	0	1	2	4	1	3	0	2	3	6	0	2	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170983104G>C	ENST00000337664.4	-	12	1451	c.1175C>G	c.(1174-1176)tCa>tGa	p.S392*	AADAT_ENST00000509167.1_Nonsense_Mutation_p.S396*|AADAT_ENST00000515480.1_Nonsense_Mutation_p.S392*|AADAT_ENST00000353187.2_Nonsense_Mutation_p.S392*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	392					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCTAGGAGCTGAGCTATCGAC	0.408													19	80					0	0	0	0	C	170983104	G	C	170983104	4	2	489	1	0	0	0	0	0	1	0	0	14	1294	45	2	110	2	AADAT	4	170983104	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	319880	170983104	20171172	216	94328											
IRF2	3660	broad.mit.edu	37	chr4	185309983	185309983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggcccgggtctcccggtCtggccgactgctgctggatg	2	9	16	14	3	2	0	0	0	2	0	3	2	2	1	3	5	2	3	3	5	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:185309983C>T	ENST00000393593.3	-	9	1186	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	327					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTCTCCCGGTCTGGCCGACTG	0.597													25	73					0	0	0	0	T	185309983	C	T	185309983	3	4	489	1	0	0	0	0	1	0	0	0	7881	913	32	2	74	2	IRF2	4	185309983	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	14326879	185309983	5844293	217	94329											
SLC6A19	340024	broad.mit.edu	37	chr5	1219654	1219654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacattcctcattggcttCatcttcacgctgaactccgg	7	12	9	13	2	4	1	3	1	1	0	6	2	6	2	2	3	1	2	2	3	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:1219654C>T	ENST00000304460.10	+	10	1469	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	471					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATTGGCTTCATCTTCACGC	0.627													11	22					0	0	0	0	T	1219654	C	T	1219654	2	4	489	1	0	0	0	0	0	0	0	1	14770	825	29	2		2	SLC6A19	5	1219654	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		1219654	179695606	218	94330											
LPCAT1	79888	broad.mit.edu	37	chr5	1463930	1463930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgaaggcagggtacatttCtgcaaacctgtggaagtcag	11	9	13	8	1	2	0	1	0	1	0	2	2	2	1	1	3	4	3	1	3	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:1463930C>T	ENST00000283415.3	-	14	1573	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	481	EF-hand 2.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGGTACATTTCTGCAAACCTG	0.527													32	131					0	0	0	0	T	1463930	C	T	1463930	3	4	489	1	0	0	0	0	1	0	0	0	8974	922	32	2	167	2	LPCAT1	5	1463930	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	244276	1463930	179451330	219	94331											
KIAA0947	23379	broad.mit.edu	37	chr5	5463612	5463612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagagcaaagttctaactgcGaggccgaaacaacatttcag	15	8	9	9	2	2	1	1	0	1	1	2	3	2	1	1	1	5	2	1	1	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:5463612G>A	ENST00000296564.7	+	13	4387	c.4165G>A	c.(4165-4167)Gag>Aag	p.E1389K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1389										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCTAACTGCGAGGCCGAAAC	0.458													8	19					0	0	0	0	A	5463612	G	A	5463612	3	1	489	1	0	0	0	0	1	0	0	0	8253	1059	37	1	4215	1	KIAA0947	5	5463612	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3999682	5463612	175451648	220	94332											
FASTKD3	79072	broad.mit.edu	37	chr5	7867058	7867058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttttgaaagaatcagttctCtactgcagtactccatgacc	11	13	7	10	0	2	3	1	2	1	1	4	3	3	3	2	0	3	4	2	0	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:7867058C>G	ENST00000264669.5	-	2	1275	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	380					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.R380K(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATCAGTTCTCTACTGCAGTA	0.438													25	78					0	0	0	0	G	7867058	C	G	7867058	3	3	489	1	0	0	0	0	1	0	0	0	5732	913	32	2	873	2	FASTKD3	5	7867058	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2403446	7867058	173048202	221	94333											
CTNND2	1501	broad.mit.edu	37	chr5	11346497	11346497	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacccacctgggatctttctGaatgctatcaatggacgggg	9	11	11	10	1	3	1	1	1	2	0	3	3	3	3	2	4	2	1	2	4	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:11346497G>A	ENST00000304623.8	-	9	1804	c.1615C>T	c.(1615-1617)Cag>Tag	p.Q539*	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q202*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q106*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q448*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q539*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	539					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATCTTTCTGAATGCTATCA	0.468													23	111					0	0	0	0	A	11346497	G	A	11346497	4	1	489	1	0	0	0	0	0	1	0	0	4052	1299	45	2	2118	2	CTNND2	5	11346497	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3479439	11346497	169568763	222	94334											
TRIO	7204	broad.mit.edu	37	chr5	14291174	14291174	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctttcccaaaaagaactCaggctcaggcaatgcggacc	14	6	9	12	1	2	1	2	0	0	1	3	2	3	2	2	3	3	3	2	3	5	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:14291174C>G	ENST00000344204.4	+	5	914	c.890C>G	c.(889-891)tCa>tGa	p.S297*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.S248*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.S297*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	297					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAAAAGAACTCAGGCTCAGGC	0.547													16	76					0	0	0	0	G	14291174	C	G	14291174	4	3	489	1	0	0	0	0	0	1	0	0	16647	838	29	2	908	2	TRIO	5	14291174	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2944677	14291174	166624086	223	94335											
NIPBL	25836	broad.mit.edu	37	chr5	36955632	36955632	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaactacaaagagccttctCtttaatgcacgaatagcaga	16	9	6	10	1	1	2	0	0	1	2	2	3	1	2	1	0	5	2	1	0	6	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:36955632C>G	ENST00000282516.8	+	3	622	c.123C>G	c.(121-123)ctC>ctG	p.L41L	NIPBL_ENST00000448238.2_Silent_p.L41L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	41					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAGCCTTCTCTTTAATGCAC	0.413													26	121					0	0	0	0	G	36955632	C	G	36955632	2	3	489	1	0	0	0	0	0	0	0	1	10498	900	32	2		2	NIPBL	5	36955632	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	22664458	36955632	143959628	224	94336											
WDR70	55100	broad.mit.edu	37	chr5	37379491	37379491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagcgctctgggcccagcGaaggtgggtttcatgaggcg	6	8	18	9	3	2	1	1	1	1	0	2	3	2	2	1	5	2	2	1	5	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:37379491G>A	ENST00000265107.4	+	1	178	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	WDR70_ENST00000504564.1_Missense_Mutation_p.E8K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	8										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGCCCAGCGAAGGTGGGTT	0.642													40	129					0	0	0	0	A	37379491	G	A	37379491	3	1	489	1	0	0	0	0	1	0	0	0	17417	1059	37	1	24	1	WDR70	5	37379491	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	423859	37379491	143535769	225	94337											
RICTOR	253260	broad.mit.edu	37	chr5	38991175	38991175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaagcattcacagtaatCatctgtaacagaaggaatca	18	8	8	7	0	4	1	3	0	1	1	4	3	4	3	0	2	2	3	0	2	6	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:38991175C>T	ENST00000357387.3	-	7	489	c.459G>A	c.(457-459)atG>atA	p.M153I	RICTOR_ENST00000296782.5_Missense_Mutation_p.M153I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	153					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCACAGTAATCATCTGTAACA	0.348													22	76					0	0	0	0	T	38991175	C	T	38991175	3	4	489	1	0	0	0	0	1	0	0	0	13441	826	29	2	4795	2	RICTOR	5	38991175	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1611684	38991175	141924085	226	94338											
PRKAA1	5562	broad.mit.edu	37	chr5	40762911	40762911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttaattagatttgcaCacatctcaaaaaattctatt	16	16	3	6	0	2	1	1	0	2	1	3	2	2	1	0	0	1	1	0	0	7	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:40762911C>G	ENST00000397128.2	-	9	1657	c.1649G>C	c.(1648-1650)tGt>tCt	p.C550S	PRKAA1_ENST00000354209.3_Missense_Mutation_p.C565S	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	550					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TAGATTTGCACACATCTCAAA	0.363													20	71					0	0	0	0	G	40762911	C	G	40762911	3	3	489	1	0	0	0	0	1	0	0	0	12573	478	17	4	34	4	PRKAA1	5	40762911	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1771736	40762911	140152349	227	94339											
C7	730	broad.mit.edu	37	chr5	40979964	40979964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgtactctgcctgcctCagctgagaaagcttgtggtg	7	11	12	11	0	2	1	1	1	1	1	2	2	2	1	2	1	6	4	2	1	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:40979964C>T	ENST00000313164.9	+	17	2662	c.2303C>T	c.(2302-2304)tCa>tTa	p.S768L	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	768	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGCCTGCCTCAGCTGAGAAA	0.463													9	39					0	0	0	0	T	40979964	C	T	40979964	3	4	489	1	0	0	0	0	1	0	0	0	2398	838	29	2	2369	2	C7	5	40979964	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	217053	40979964	139935296	228	94340											
C6	729	broad.mit.edu	37	chr5	41160462	41160462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttaccaagtccacgatgGgggcaagctaggagaaaatg	13	8	12	8	1	1	1	0	0	1	1	2	3	2	1	2	3	2	2	2	3	6	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:41160462G>T	ENST00000263413.3	-	11	1730	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	C6_ENST00000337836.5_Missense_Mutation_p.P489H|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	489	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCCACGATGGGGGCAAGCTA	0.502													12	55					0.000151284	0.000153202	1	0	T	41160462	G	T	41160462	3	4	489	1	0	0	0	0	1	0	0	0	2336	1232	43	4	1370	4	C6	5	41160462	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	180498	41160462	139754798	229	94341											
SNX18	112574	broad.mit.edu	37	chr5	53839208	53839208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacaacaaataatatttttCcaaaaagttacccagaagtt	19	11	3	8	0	0	1	0	0	0	1	1	1	1	1	2	0	3	2	2	0	9	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:53839208C>A	ENST00000381410.4	+	2	2011	c.1821C>A	c.(1819-1821)ttC>ttA	p.F607L	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	460	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TAATATTTTTCCAAAAAGTTA	0.348													22	86					6.44725e-10	6.73857e-10	1	0	A	53839208	C	A	53839208	3	1	489	1	0	0	0	0	1	0	0	0	14977	854	30	2	2093	2	SNX18	5	53839208	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	12678746	53839208	127076052	230	94342											
COL4A3BP	10087	broad.mit.edu	37	chr5	74721288	74721288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taagatgtctctaaatgtttCcatttcagccaacttctcac	11	15	4	11	0	3	1	2	0	2	1	6	1	4	1	2	0	2	1	2	0	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:74721288C>G	ENST00000380494.5	-	6	1170	c.877G>C	c.(877-879)Gaa>Caa	p.E293Q	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.E165Q|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.E165Q	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	165					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CTAAATGTTTCCATTTCAGCC	0.388													30	78					0	0	0	0	G	74721288	C	G	74721288	3	3	489	1	0	0	0	0	1	0	0	0	3722	864	30	2	1433	2	COL4A3BP	5	74721288	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	20882080	74721288	106193972	231	94343											
CRHBP	1393	broad.mit.edu	37	chr5	76264639	76264639	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgacttttgagtatcgtCagctggagccgtacgagctg	7	12	14	8	3	1	2	1	2	0	0	2	4	1	3	1	1	4	4	1	1	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:76264639C>T	ENST00000274368.4	+	7	1320	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	300					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGAGTATCGTCAGCTGGAGCC	0.458													20	75					0	0	0	0	T	76264639	C	T	76264639	4	4	489	1	0	0	0	0	0	1	0	0	3900	827	29	2	924	2	CRHBP	5	76264639	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1543351	76264639	104650621	232	94344											
CMYA5	202333	broad.mit.edu	37	chr5	79027795	79027795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcaaaaagctgaaactttCcctttgatgtctccgcttga	12	12	7	10	1	1	3	0	3	1	0	3	3	2	3	2	0	3	3	2	0	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:79027795C>A	ENST00000446378.2	+	2	3238	c.3207C>A	c.(3205-3207)ttC>ttA	p.F1069L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1069						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGAAACTTTCCCTTTGATGT	0.438													14	42					0.00400662	0.00404807	1	0	A	79027795	C	A	79027795	3	1	489	1	0	0	0	0	1	0	0	0	3620	854	30	2	3213	2	CMYA5	5	79027795	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2763156	79027795	101887465	233	94345											
CKMT2	1160	broad.mit.edu	37	chr5	80555067	80555067	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttaggatcccaaagctCagcaaggtactgttatgtgc	11	10	10	10	1	1	0	1	0	0	0	2	1	2	1	1	2	4	5	1	2	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:80555067C>A	ENST00000424301.2	+	9	1246	c.1008C>A	c.(1006-1008)ctC>ctA	p.L336L	CKMT2_ENST00000437669.1_Silent_p.L336L|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CKMT2_ENST00000254035.4_Silent_p.L336L|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	336	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TCCCAAAGCTCAGCAAGGTAC	0.517													10	56					2.17888e-05	2.21927e-05	1	0	A	80555067	C	A	80555067	2	1	489	1	0	0	0	0	0	0	0	1	3481	813	29	2		2	CKMT2	5	80555067	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1527272	80555067	100360193	234	94346											
LNPEP	4012	broad.mit.edu	37	chr5	96315345	96315345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccactgccgttgtgccaCtacgctatgaactcagccta	8	11	7	15	2	1	1	1	1	0	0	2	1	2	1	4	0	5	2	4	0	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:96315345C>G	ENST00000231368.5	+	2	1215	c.523C>G	c.(523-525)Cta>Gta	p.L175V	LNPEP_ENST00000395770.3_Missense_Mutation_p.L161V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	175					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CGTTGTGCCACTACGCTATGA	0.453													34	108					0	0	0	0	G	96315345	C	G	96315345	3	3	489	1	0	0	0	0	1	0	0	0	8919	564	20	4	529	4	LNPEP	5	96315345	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	15760278	96315345	84599915	235	94347											
PPIP5K2	23262	broad.mit.edu	37	chr5	102472513	102472513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacttgaatatgcagtatCtcatacaagataggtgagtg	14	12	10	5	0	1	4	1	3	1	1	2	4	1	4	0	1	2	2	0	1	6	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:102472513C>T	ENST00000321521.9	+	4	961	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L130F|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L130F			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	130					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TATGCAGTATCTCATACAAGA	0.363													34	180					0	0	0	0	T	102472513	C	T	102472513	3	4	489	1	0	0	0	0	1	0	0	0	12409	913	32	2	398	2	PPIP5K2	5	102472513	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6157168	102472513	78442747	236	94348											
FER	2241	broad.mit.edu	37	chr5	108290552	108290552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagactttttggtgcgagaGagtcatgggaaacctggtga	10	10	16	5	1	1	3	1	1	0	2	1	7	1	4	1	4	2	0	1	4	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:108290552G>C	ENST00000281092.4	+	12	1836	c.1452G>C	c.(1450-1452)gaG>gaC	p.E484D	FER_ENST00000438717.2_Missense_Mutation_p.E309D|FER_ENST00000536402.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	484	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGTGCGAGAGAGTCATGGGA	0.403													17	91					0	0	0	0	C	108290552	G	C	108290552	3	2	489	1	0	0	0	0	1	0	0	0	5858	933	33	2	1490	2	FER	5	108290552	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5818039	108290552	72624708	237	94349											
IK	3550	broad.mit.edu	37	chr5	140031308	140031308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcttctagatcaaaactCaccaatgaagacttcaggaa	15	12	5	9	0	5	3	3	1	2	2	5	4	5	4	1	1	1	0	1	1	6	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140031308C>T	ENST00000417647.2	+	3	232	c.93C>T	c.(91-93)ctC>ctT	p.L31L	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	31					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCAAAACTCACCAATGAAG	0.373													3	38					0	0	0	0	T	140031308	C	T	140031308	2	4	489	1	0	0	0	0	0	0	0	1	7661	813	29	2		2	IK	5	140031308	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	31740756	140031308	40883952	238	94350											
PCDHB3	56132	broad.mit.edu	37	chr5	140482100	140482100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtgtgggcgcacaatggcGaagtgcgcaccgccaggctg	7	5	17	12	5	0	0	0	0	0	0	0	1	0	0	2	3	1	3	2	3	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140482100G>A	ENST00000231130.2	+	1	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAATGGCGAAGTGCGCAC	0.711													41	95					0	0	0	0	A	140482100	G	A	140482100	3	1	489	1	0	0	0	0	1	0	0	0	11614	1059	37	1	1869	1	PCDHB3	5	140482100	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	450792	140482100	40433160	239	94351											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810366	140810366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgggactacaaagggcttGtcctgctgggaatcctcctg	8	9	12	12	1	0	0	0	0	0	0	3	2	3	2	4	3	2	2	4	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140810366G>C	ENST00000252085.3	+	1	182	c.40G>C	c.(40-42)Gtc>Ctc	p.V14L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGGGCTTGTCCTGCTGGG	0.527													39	93					0	0	0	0	C	140810366	G	C	140810366	3	2	489	1	0	0	0	0	1	0	0	0	11624	1377	48	4	42	4	PCDHGA12	5	140810366	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	328266	140810366	40104894	240	94352											
KCTD16	57528	broad.mit.edu	37	chr5	143586985	143586985	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaagcacctggaaagggcTtttgatatgttgtcagagtg	10	13	12	6	0	2	2	2	1	0	1	2	3	2	3	1	2	1	3	1	2	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:143586985T>A	ENST00000507359.2	+	2	1799	c.708T>A	c.(706-708)gcT>gcA	p.A236A	KCTD16_ENST00000512467.1_Silent_p.A236A	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	236						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGGAAAGGGCTTTTGATATGT	0.428													4	131					0	0	0	0	A	143586985	T	A	143586985	2	1	489	1	0	0	0	0	0	0	0	1	8156	1596	56	5		5	KCTD16	5	143586985	Silent	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	2776619	143586985	37328275	241	94353											
LARS	51520	broad.mit.edu	37	chr5	145493842	145493842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgaggccccaacagtggatCatcaaatctcatcagtttca	12	10	7	12	1	5	0	5	0	1	0	7	2	5	1	2	2	1	1	2	2	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145493842C>T	ENST00000394434.2	-	32	3524	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	LARS_ENST00000274562.9_Missense_Mutation_p.D1093N|LARS_ENST00000545646.1_Missense_Mutation_p.D1074N|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.D1066N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1120					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AACAGTGGATCATCAAATCTC	0.433													16	53					0	0	0	0	T	145493842	C	T	145493842	3	4	489	1	0	0	0	0	1	0	0	0	8687	826	29	2	176	2	LARS	5	145493842	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1906857	145493842	35421418	242	94354											
LARS	51520	broad.mit.edu	37	chr5	145552278	145552278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggataaagaaaacgtgtgtCccaaatgaaggcgtccattc	14	9	10	8	2	0	2	0	1	0	1	3	3	2	3	2	2	1	0	2	2	6	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145552278C>T	ENST00000394434.2	-	3	351	c.185G>A	c.(184-186)gGa>gAa	p.G62E	LARS_ENST00000274562.9_Missense_Mutation_p.G62E|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.G62E|LARS_ENST00000510191.1_Missense_Mutation_p.G8E	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	62					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AAACGTGTGTCCCAAATGAAG	0.353													18	86					0	0	0	0	T	145552278	C	T	145552278	3	4	489	1	0	0	0	0	1	0	0	0	8687	855	30	2	3465	2	LARS	5	145552278	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	58436	145552278	35362982	243	94355											
TCERG1	10915	broad.mit.edu	37	chr5	145834750	145834750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccctcctccaccaccacGgccgccctttggacgtcctc	5	7	8	21	3	0	0	0	0	0	0	4	1	3	1	8	3	0	0	8	3	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145834750G>A	ENST00000296702.5	+	2	229	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	TCERG1_ENST00000394421.2_Missense_Mutation_p.R64Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	64	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCACCACGGCCGCCCTTT	0.607													19	99					0	0	0	0	A	145834750	G	A	145834750	3	1	489	1	0	0	0	0	1	0	0	0	15779	1116	39	1	197	1	TCERG1	5	145834750	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	282472	145834750	35080510	244	94356											
SH3TC2	79628	broad.mit.edu	37	chr5	148389898	148389898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacacatcacctgcttcttCataaagtttgagagccagca	13	10	7	11	0	3	1	2	1	1	1	3	3	3	1	2	0	4	3	2	0	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:148389898C>T	ENST00000538184.1	-	10	2791	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	SH3TC2_ENST00000515425.1_Missense_Mutation_p.E1088K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E1081K			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1088							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTTCTTCATAAAGTTTG	0.532													17	60					0	0	0	0	T	148389898	C	T	148389898	3	4	489	1	0	0	0	0	1	0	0	0	14350	835	29	2	620	2	SH3TC2	5	148389898	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2555148	148389898	32525362	245	94357											
PDE6A	5145	broad.mit.edu	37	chr5	149277943	149277943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaagattttctgaatttCttcattgtcacacttcacat	11	16	3	11	0	5	2	3	1	2	1	5	2	5	2	1	0	0	0	1	0	2	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:149277943C>T	ENST00000255266.5	-	10	1509	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	464					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTCTGAATTTCTTCATTGTCA	0.348													24	87					0	0	0	0	T	149277943	C	T	149277943	3	4	489	1	0	0	0	0	1	0	0	0	11716	922	32	2	1244	2	PDE6A	5	149277943	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	888045	149277943	31637317	246	94358											
ADAM19	8728	broad.mit.edu	37	chr5	156908825	156908825	+	Frame_Shift_Del	DEL	G	G	-																															ggcaagtgctgccagaggccGggactgctgagggccagcac																								rs34145949		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:156908825delG	ENST00000257527.4	-	22	2755	c.2677delC	c.(2677-2679)ggfs	p.R893fs	ADAM19_ENST00000394020.1_Frame_Shift_Del_p.R895fs|ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000517905.1_Frame_Shift_Del_p.R893fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	893					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGAGGCCGGGACTGCTGA	0.667													2	4	---	---	---	---					-	156908825	G	-	156908825	7	5	489	1	0	1	0	1	0	0	0	0	240	1115	39	0	87	0	ADAM19	5	156908825	Frame_Shift_Del	DEL	G	TCGA-TN-A7HL-01A-11D-A34J-08	7630882	156908825	24006435	247	94359											
DOCK2	1794	broad.mit.edu	37	chr5	169446073	169446073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataccaatcttcttcgacatGatgctgtgtgaatatcaaag	13	13	7	8	1	3	2	1	2	2	0	4	3	3	2	1	0	2	1	1	0	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:169446073G>C	ENST00000256935.8	+	33	3422	c.3342G>C	c.(3340-3342)atG>atC	p.M1114I	DOCK2_ENST00000520908.1_Missense_Mutation_p.M606I|DOCK2_ENST00000540750.1_Missense_Mutation_p.M175I|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1114	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCGACATGATGCTGTGTG	0.458													66	225					0	0	0	0	C	169446073	G	C	169446073	3	2	489	1	0	0	0	0	1	0	0	0	4723	1290	45	2	3472	2	DOCK2	5	169446073	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12537248	169446073	11469187	248	94360											
NSD1	64324	broad.mit.edu	37	chr5	176684087	176684087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagaacaagggcttccGgtgctccctccacatctgta	9	10	9	13	1	1	1	0	0	1	1	4	1	4	1	3	2	3	4	3	2	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:176684087G>A	ENST00000439151.2	+	13	4946	c.4901G>A	c.(4900-4902)cGg>cAg	p.R1634Q	NSD1_ENST00000347982.4_Missense_Mutation_p.R1365Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R1531Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1365Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1634					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGGGCTTCCGGTGCTCCCTC	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	51					0	0	0	0	A	176684087	G	A	176684087	3	1	489	1	0	0	0	0	1	0	0	0	10740	1116	39	1	4947	1	NSD1	5	176684087	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	7238014	176684087	4231173	249	94361											
RASGEF1C	255426	broad.mit.edu	37	chr5	179546440	179546440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgggccctctgcttcttCttggctggctggggacaggg	3	11	15	12	0	3	0	0	0	3	0	3	1	3	1	2	6	1	3	2	6	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:179546440C>G	ENST00000393371.2	-	7	1109	c.813G>C	c.(811-813)aaG>aaC	p.K271N	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.K271N|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.K120N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	271	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTTCTTCTTGGCTGGCT	0.612													4	27					0	0	0	0	G	179546440	C	G	179546440	3	3	489	1	0	0	0	0	1	0	0	0	13153	912	32	2	615	2	RASGEF1C	5	179546440	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2862353	179546440	1368820	250	94362											
DSP	1832	broad.mit.edu	37	chr6	7583022	7583022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatcgtgcaaaatcaactCtagaggcagaaaccagggtg	15	7	11	8	1	2	3	1	1	1	2	3	3	2	3	1	2	3	2	1	2	6	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:7583022C>G	ENST00000379802.3	+	24	5868	c.5527C>G	c.(5527-5529)Cta>Gta	p.L1843V	DSP_ENST00000418664.2_Missense_Mutation_p.L1244V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1843	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATCAACTCTAGAGGCAGA	0.488													20	109					0	0	0	0	G	7583022	C	G	7583022	3	3	489	1	0	0	0	0	1	0	0	0	4817	912	32	2	5621	2	DSP	6	7583022	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		7583022	163532045	251	94363											
NUP153	9972	broad.mit.edu	37	chr6	17626393	17626393	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggctttgctgcaccttGatctgtaagacagaaattaa	13	12	8	8	0	1	3	0	1	1	2	1	3	1	3	1	1	3	4	1	1	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:17626393G>A	ENST00000262077.2	-	19	3546	c.3547C>T	c.(3547-3549)Caa>Taa	p.Q1183*	NUP153_ENST00000537253.1_Nonsense_Mutation_p.Q1214*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1183					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGCACCTTGATCTGTAAGA	0.388													15	44					0	0	0	0	A	17626393	G	A	17626393	4	1	489	1	0	0	0	0	0	1	0	0	10826	1299	45	2	896	2	NUP153	6	17626393	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	10043371	17626393	153488674	252	94364											
NUP153	9972	broad.mit.edu	37	chr6	17629246	17629246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgatgtcttacatgtgaaagGagccactgaagcactcttgg	11	11	11	8	0	2	3	0	3	2	0	2	4	2	4	1	2	3	1	1	2	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:17629246G>C	ENST00000262077.2	-	18	3183	c.3184C>G	c.(3184-3186)Cct>Gct	p.P1062A	NUP153_ENST00000537253.1_Missense_Mutation_p.P1093A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1062					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CATGTGAAAGGAGCCACTGAA	0.478													33	103					0	0	0	0	C	17629246	G	C	17629246	3	2	489	1	0	0	0	0	1	0	0	0	10826	1174	41	2	1263	2	NUP153	6	17629246	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2853	17629246	153485821	253	94365											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26251911	26251911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctaagtccgctcccgccccGaagaagggctccaagaaggc	10	4	12	15	3	0	2	0	0	0	2	3	3	3	2	5	2	0	3	5	2	5	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:26251911G>A	ENST00000356350.2	+	1	33	c.33G>A	c.(31-33)ccG>ccA	p.P11P		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	11					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CTCCCGCCCCGAAGAAGGGCT	0.532													27	95					0	0	0	0	A	26251911	G	A	26251911	2	1	489	1	0	0	0	0	0	0	0	1	7197	1045	37	1		1	HIST1H2BH	6	26251911	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	8622665	26251911	144863156	254	94366											
RNF39	80352	broad.mit.edu	37	chr6	30043456	30043456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgctgcttgctgtgtaGatgcccttctctccgactcc	3	13	8	17	1	1	1	0	0	1	1	4	2	3	1	5	0	4	4	5	0	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:30043456G>C	ENST00000244360.6	-	1	208	c.111C>G	c.(109-111)atC>atG	p.I37M	RNF39_ENST00000376751.3_Missense_Mutation_p.I37M	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	37						cytoplasm	zinc ion binding										TTGCTGTGTAGATGCCCTTCT	0.612													16	56					0	0	0	0	C	30043456	G	C	30043456	3	2	489	1	0	0	0	0	1	0	0	0	13576	932	33	2	1167	2	RNF39	6	30043456	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3791545	30043456	141071611	255	94367											
CLIC1	1192	broad.mit.edu	37	chr6	31701346	31701346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacccacaagactcactgtCattgagtgctgggtttgaat	10	12	10	9	0	2	4	2	3	0	1	2	4	2	4	1	1	1	2	1	1	2	2	rs151146724		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:31701346C>T	ENST00000375780.2	-	5	951	c.379G>A	c.(379-381)Gac>Aac	p.D127N	CLIC1_ENST00000395892.1_Missense_Mutation_p.D127N|CLIC1_ENST00000375779.2_Missense_Mutation_p.D127N|CLIC1_ENST00000375784.3_Missense_Mutation_p.D127N			O00299	CLIC1_HUMAN	chloride intracellular channel 1	127	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GACTCACTGTCATTGAGTGCT	0.537													4	31					0	0	0	0	T	31701346	C	T	31701346	3	4	489	1	0	0	0	0	1	0	0	0	3555	826	29	2	358	2	CLIC1	6	31701346	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1657890	31701346	139413721	256	94368											
SKIV2L	6499	broad.mit.edu	37	chr6	31927109	31927109	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctggacctaccccttCgggccgtggagctcggatgc	5	8	12	16	3	0	0	0	0	0	0	3	3	1	3	6	4	3	1	6	4	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:31927109C>A	ENST00000375394.2	+	2	171	c.58C>A	c.(58-60)Cgg>Agg	p.R20R	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	20						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCTACCCCTTCGGGCCGTGGA	0.572													86	298					1.38319e-45	1.49181e-45	1	0	A	31927109	C	A	31927109	2	1	489	1	0	0	0	0	0	0	0	1	14447	875	31	3		3	SKIV2L	6	31927109	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	225763	31927109	139187958	257	94369											
GPSM3	63940	broad.mit.edu	37	chr6	32159206	32159206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacccccaccctgaactctCagcagcaactccaggagctc	10	5	7	19	1	1	1	1	1	1	0	4	3	2	2	4	1	5	3	4	1	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:32159206C>T	ENST00000375040.3	-	4	812	c.420G>A	c.(418-420)ctG>ctA	p.L140L	GPSM3_ENST00000375043.3_Silent_p.L140L|GPSM3_ENST00000487761.1_Silent_p.L137L	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	140	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCTGAACTCTCAGCAGCAACT	0.652													23	73					0	0	0	0	T	32159206	C	T	32159206	2	4	489	1	0	0	0	0	0	0	0	1	6786	813	29	2		2	GPSM3	6	32159206	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	232097	32159206	138955861	258	94370											
NOTCH4	4855	broad.mit.edu	37	chr6	32163523	32163523	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctgctcctactccCgagaggctccggcaatgaga	7	8	9	17	2	0	2	0	1	0	2	5	4	5	2	6	2	2	3	6	2	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:32163523C>G	ENST00000375023.3	-	30	5841	c.5703G>C	c.(5701-5703)tcG>tcC	p.S1901S	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1901					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCCTACTCCCGAGAGGCTCC	0.677													8	36					0	0	0	0	G	32163523	C	G	32163523	2	3	489	1	0	0	0	0	0	0	0	1	10621	639	23	3		3	NOTCH4	6	32163523	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4317	32163523	138951544	259	94371											
ZBTB22	9278	broad.mit.edu	37	chr6	33283442	33283442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgccctgcatgtccaaggGaaggagcggtcgaggagggt	8	7	18	8	2	0	0	0	0	0	0	2	4	1	3	2	5	3	2	2	5	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:33283442G>T	ENST00000431845.2	-	2	1403	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P418T	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ATGTCCAAGGGAAGGAGCGGT	0.612													45	122					2.13384e-23	2.29016e-23	1	0	T	33283442	G	T	33283442	3	4	489	1	0	0	0	0	1	0	0	0	17625	1174	41	2	656	2	ZBTB22	6	33283442	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1119919	33283442	137831625	260	94372											
ITPR3	3710	broad.mit.edu	37	chr6	33657052	33657052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcatctcattgctcttctgGatcctcatctgcttctccat	5	17	4	15	0	7	0	3	0	5	0	10	1	8	1	2	1	2	2	2	1	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:33657052G>C	ENST00000374316.5	+	51	7792	c.6732G>C	c.(6730-6732)tgG>tgC	p.W2244C	ITPR3_ENST00000605930.1_Missense_Mutation_p.W2244C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2244					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGCTCTTCTGGATCCTCATCT	0.642													21	76					0	0	0	0	C	33657052	G	C	33657052	3	2	489	1	0	0	0	0	1	0	0	0	7975	1183	41	2	6930	2	ITPR3	6	33657052	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	373610	33657052	137458015	261	94373											
TULP1	7287	broad.mit.edu	37	chr6	35473538	35473538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcttcccgatgaaattCtcccctcctcgggacagatt	8	11	7	15	2	2	2	1	1	1	1	6	4	4	3	4	1	1	1	4	1	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:35473538C>T	ENST00000229771.6	-	11	1171	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E	TULP1_ENST00000322263.4_Silent_p.E311E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	364					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CGATGAAATTCTCCCCTCCTC	0.582													21	53					0	0	0	0	T	35473538	C	T	35473538	2	4	489	1	0	0	0	0	0	0	0	1	16869	912	32	2		2	TULP1	6	35473538	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1816486	35473538	135641529	262	94374											
MTCH1	23787	broad.mit.edu	37	chr6	36946345	36946345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagccggggactcaggcctCggaacagccctatcttacca	9	7	10	15	2	3	0	2	0	1	0	4	2	3	2	4	4	4	0	4	4	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:36946345C>T	ENST00000373627.5	-	3	573	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	MTCH1_ENST00000373616.5_Missense_Mutation_p.R150Q|MTCH1_ENST00000538808.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	150					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACTCAGGCCTCGGAACAGCCC	0.577													21	71					0	0	0	0	T	36946345	C	T	36946345	3	4	489	1	0	0	0	0	1	0	0	0	9983	884	31	1	709	1	MTCH1	6	36946345	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1472807	36946345	134168722	263	94375											
TRERF1	55809	broad.mit.edu	37	chr6	42214269	42214269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agttttctttctagggaggtCcacttgtccgaacctacaac	9	13	8	11	1	2	0	0	0	2	0	4	2	4	1	3	2	3	1	3	2	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:42214269C>G	ENST00000541110.1	-	14	3298	c.2730G>C	c.(2728-2730)tgG>tgC	p.W910C	TRERF1_ENST00000372922.4_Missense_Mutation_p.W890C|TRERF1_ENST00000354325.2_Missense_Mutation_p.W807C|TRERF1_ENST00000372917.4_Missense_Mutation_p.W807C|TRERF1_ENST00000340840.2_Missense_Mutation_p.W807C			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	890	Interacts with CREBBP.|SANT.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTAGGGAGGTCCACTTGTCCG	0.383													10	93					0	0	0	0	G	42214269	C	G	42214269	3	3	489	1	0	0	0	0	1	0	0	0	16570	856	30	2	952	2	TRERF1	6	42214269	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5267924	42214269	128900798	264	94376											
PKHD1	5314	broad.mit.edu	37	chr6	51777273	51777273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactgatgatgacaacttCatccccagggttccagtcca	10	10	7	14	0	1	3	1	3	0	0	5	3	5	3	5	1	1	1	5	1	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:51777273C>T	ENST00000371117.3	-	38	6498	c.6223G>A	c.(6223-6225)Gaa>Aaa	p.E2075K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E2075K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2075					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGACAACTTCATCCCCAGGG	0.473													40	89					0	0	0	0	T	51777273	C	T	51777273	3	4	489	1	0	0	0	0	1	0	0	0	12043	835	29	2	6160	2	PKHD1	6	51777273	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	9563004	51777273	119337794	265	94377											
DST	667	broad.mit.edu	37	chr6	56325006	56325006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagtggaagcctttccctGataaatatcctggaagtcga	12	10	10	9	1	0	2	0	1	0	1	3	5	2	4	3	2	1	0	3	2	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:56325006G>A	ENST00000370754.5	-	101	22912	c.22913C>T	c.(22912-22914)tCa>tTa	p.S7638L	DST_ENST00000446842.2_Missense_Mutation_p.S7134L|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.S7349L|DST_ENST00000244364.6_Missense_Mutation_p.S5059L|DST_ENST00000370788.2_Missense_Mutation_p.S5263L|DST_ENST00000370769.4_Missense_Mutation_p.S7460L|DST_ENST00000421834.2_Missense_Mutation_p.S5345L			Q03001	DYST_HUMAN	dystonin	7458					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCTTTCCCTGATAAATATCC	0.453													6	58					0	0	0	0	A	56325006	G	A	56325006	3	1	489	1	0	0	0	0	1	0	0	0	4819	1294	45	2	347	2	DST	6	56325006	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4547733	56325006	114790061	266	94378											
SNAP91	9892	broad.mit.edu	37	chr6	84375259	84375259	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagagtgtcggccatctGaggaatattaacattggtct	13	11	11	6	1	2	2	0	1	2	1	3	4	2	3	1	3	1	0	1	3	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:84375259G>A	ENST00000428679.2	-	3	765	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	SNAP91_ENST00000521485.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000369694.2_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000521743.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000439399.2_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000520213.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000437520.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.Q58*			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	58	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCGGCCATCTGAGGAATATTA	0.378													20	99					0	0	0	0	A	84375259	G	A	84375259	4	1	489	1	0	0	0	0	0	1	0	0	14921	1299	45	2	2655	2	SNAP91	6	84375259	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	28050253	84375259	86739808	267	94379											
MAP3K7	6885	broad.mit.edu	37	chr6	91263225	91263225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgggccaccaatctcatCaaagggtttccgacgcgtta	10	9	10	12	3	2	0	2	0	1	0	4	1	3	0	3	2	1	3	3	2	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:91263225C>T	ENST00000369329.3	-	7	849	c.688G>A	c.(688-690)Gat>Aat	p.D230N	MAP3K7_ENST00000369332.3_Missense_Mutation_p.D230N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.D230N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.D230N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	230	Protein kinase.				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			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)		CCAATCTCATCAAAGGGTTTC	0.373													40	135					0	0	0	0	T	91263225	C	T	91263225	3	4	489	1	0	0	0	0	1	0	0	0	9324	826	29	2	1176	2	MAP3K7	6	91263225	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6887966	91263225	79851842	268	94380											
SESN1	27244	broad.mit.edu	37	chr6	109315691	109315691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagacaaacatactctctCttttttctatttcaaaacgt	14	15	3	9	1	4	2	1	0	3	2	5	2	4	2	0	0	3	0	0	0	6	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:109315691C>G	ENST00000436639.2	-	6	1839	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	SESN1_ENST00000302071.2_Missense_Mutation_p.R240T|SESN1_ENST00000356644.7_Missense_Mutation_p.R306T	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	306					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CATACTCTCTCTTTTTTCTAT	0.338													31	113					0	0	0	0	G	109315691	C	G	109315691	3	3	489	1	0	0	0	0	1	0	0	0	14211	913	32	2	581	2	SESN1	6	109315691	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	18052466	109315691	61799376	269	94381											
SESN1	27244	broad.mit.edu	37	chr6	109415189	109415189	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcctcaaaatggtttGcctaatgttttccaatgctg	8	17	8	8	0	1	0	1	0	0	0	3	0	3	0	3	2	2	4	3	2	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:109415189G>C	ENST00000436639.2	-	1	833	c.88C>G	c.(88-90)Caa>Gaa	p.Q30E		NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	86					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		AAAATGGTTTGCCTAATGTTT	0.443													31	125					0	0	0	0	C	109415189	G	C	109415189	3	2	489	1	0	0	0	0	1	0	0	0	14211	1328	46	4	1607	4	SESN1	6	109415189	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	99498	109415189	61699878	270	94382											
REV3L	5980	broad.mit.edu	37	chr6	111689121	111689121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggattctgagtcattgctGagaatgctgttttccaaaga	10	15	10	6	0	2	3	1	2	1	2	3	5	3	4	1	1	2	3	1	1	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:111689121G>A	ENST00000435970.1	-	16	6452	c.5636C>T	c.(5635-5637)tCa>tTa	p.S1879L	REV3L_ENST00000368805.1_Missense_Mutation_p.S1957L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1957L|REV3L_ENST00000358835.3_Missense_Mutation_p.S1957L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1957	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGTCATTGCTGAGAATGCTGT	0.473								DNA polymerases (catalytic subunits)					31	118					0	0	0	0	A	111689121	G	A	111689121	3	1	489	1	0	0	0	0	1	0	0	0	13322	1294	45	2	3598	2	REV3L	6	111689121	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2273932	111689121	59425946	271	94383											
GPRC6A	222545	broad.mit.edu	37	chr6	117113562	117113562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagactttgtgttaatctCttgcttacaaataataacat	13	15	6	7	0	1	1	0	0	1	1	2	1	1	1	0	1	3	3	0	1	5	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:117113562C>G	ENST00000310357.3	-	6	2545	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	GPRC6A_ENST00000530250.1_Missense_Mutation_p.E667Q|GPRC6A_ENST00000368549.3_Missense_Mutation_p.E771Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	842					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTGTTAATCTCTTGCTTACAA	0.388													27	103					0	0	0	0	G	117113562	C	G	117113562	3	3	489	1	0	0	0	0	1	0	0	0	6778	922	32	2	260	2	GPRC6A	6	117113562	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5424441	117113562	54001505	272	94384											
THEMIS	387357	broad.mit.edu	37	chr6	128176229	128176229	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactcacaaccttcaatctGctcacaaatttcagctatga	14	11	4	12	0	5	2	4	1	1	1	5	2	5	2	1	0	3	2	1	0	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:128176229G>A	ENST00000543064.1	-	2	344	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	THEMIS_ENST00000537166.1_Nonsense_Mutation_p.Q31*|THEMIS_ENST00000368248.2_Nonsense_Mutation_p.Q66*|THEMIS_ENST00000368250.1_5'UTR	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	66	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCTTCAATCTGCTCACAAATT	0.338													18	69					0	0	0	0	A	128176229	G	A	128176229	4	1	489	1	0	0	0	0	0	1	0	0	15954	1328	46	4	1870	4	THEMIS	6	128176229	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	11062667	128176229	42938838	273	94385											
IGF2R	3482	broad.mit.edu	37	chr6	160483568	160483568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatttatattacagggctCaccagcatttcagcttcagg	10	13	8	10	0	3	1	3	1	0	0	3	1	3	1	1	2	3	3	1	2	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:160483568C>T	ENST00000356956.1	+	26	3735	c.3587C>T	c.(3586-3588)tCa>tTa	p.S1196L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1196					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTACAGGGCTCACCAGCATTT	0.473													14	56					0	0	0	0	T	160483568	C	T	160483568	3	4	489	1	0	0	0	0	1	0	0	0	7629	838	29	2	3689	2	IGF2R	6	160483568	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	32307339	160483568	10631499	274	94386											
RADIL	55698	broad.mit.edu	37	chr7	4917288	4917288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcctccacgtccgacctCttcctcagctcaaacctccg	7	9	5	20	3	3	0	2	0	1	0	8	1	8	0	7	0	3	2	7	0	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:4917288C>G	ENST00000399583.3	-	2	670	c.483G>C	c.(481-483)aaG>aaC	p.K161N	RADIL_ENST00000536091.1_Missense_Mutation_p.K161N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	161	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTCCGACCTCTTCCTCAGCT	0.602													24	52					0	0	0	0	G	4917288	C	G	4917288	3	3	489	1	0	0	0	0	1	0	0	0	13079	912	32	2	2800	2	RADIL	7	4917288	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		4917288	154221375	275	94387											
DNAH11	8701	broad.mit.edu	37	chr7	21765447	21765447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatttctgattatcaagctGacttcagtcggtggtggcag	9	13	12	7	1	3	3	2	2	1	1	4	3	3	3	0	3	1	2	0	3	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:21765447G>C	ENST00000328843.6	+	46	7337	c.7306G>C	c.(7306-7308)Gac>Cac	p.D2436H	DNAH11_ENST00000409508.3_Missense_Mutation_p.D2429H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2436					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATCAAGCTGACTTCAGTCG	0.328									Kartagener syndrome				3	10					0	0	0	0	C	21765447	G	C	21765447	3	2	489	1	0	0	0	0	1	0	0	0	4636	1290	45	2	7485	2	DNAH11	7	21765447	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	16848159	21765447	137373216	276	94388											
SCRN1	9805	broad.mit.edu	37	chr7	29983663	29983663	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcatcacgatccacaatCagatatgcactttggaagct	12	11	7	11	1	3	1	3	0	0	1	4	3	4	2	1	1	2	3	1	1	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:29983663C>G	ENST00000426154.1	-	4	650	c.474G>C	c.(472-474)ctG>ctC	p.L158L	SCRN1_ENST00000416113.2_Silent_p.L49L|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000242059.5_Silent_p.L158L|SCRN1_ENST00000409497.1_Silent_p.L158L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	158					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GATCCACAATCAGATATGCAC	0.488													23	80					0	0	0	0	G	29983663	C	G	29983663	2	3	489	1	0	0	0	0	0	0	0	1	14025	813	29	2		2	SCRN1	7	29983663	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8218216	29983663	129155000	277	94389											
SFRP4	6424	broad.mit.edu	37	chr7	37956055	37956055	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgccggcacatagggaTgcgcaccgcctcgcagggcg	7	5	15	14	5	0	0	0	0	0	0	1	1	0	1	3	3	2	3	3	3	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:37956055T>C	ENST00000436072.2	-	1	462	c.85A>G	c.(85-87)Atc>Gtc	p.I29V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	29	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACATAGGGATGCGCACCGCC	0.672													16	74					0	0	0	0	C	37956055	T	C	37956055	3	2	489	1	0	0	0	0	1	0	0	0	14250	1464	51	5	979	5	SFRP4	7	37956055	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	7972392	37956055	121182608	278	94390											
COBL	23242	broad.mit.edu	37	chr7	51251897	51251897	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgatttcctaaaggtttCtggaaaaaaaaagcactaag	17	11	8	5	0	1	2	0	2	1	0	2	3	2	3	1	2	1	2	1	2	7	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:51251897C>T	ENST00000395542.2	-	5	870		c.e5-1		COBL_ENST00000441453.1_Splice_Site|COBL_ENST00000395540.2_Splice_Site|COBL_ENST00000265136.7_Splice_Site			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein											NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTAAAGGTTTCTGGAAAAAAA	0.279													8	22					0	0	0	0	T	51251897	C	T	51251897	5	4	489	1	0	0	0	0	0	0	1	0	3683	927	32	2	3136	2	COBL	7	51251897	Splice_Site	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	13295842	51251897	107886766	279	94391											
POM121L12	285877	broad.mit.edu	37	chr7	53103896	53103896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccctgcacccgggagactCtgctgggggcgctcagccag	6	5	14	16	2	2	1	1	0	1	1	2	2	2	1	4	3	3	3	4	3	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:53103896C>G	ENST00000408890.4	+	1	548	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	178										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGGGAGACTCTGCTGGGGGC	0.701													10	29					0	0	0	0	G	53103896	C	G	53103896	3	3	489	1	0	0	0	0	1	0	0	0	12313	912	32	2	534	2	POM121L12	7	53103896	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1851999	53103896	106034767	280	94392											
CCT6A	908	broad.mit.edu	37	chr7	56129470	56129470	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaactctggttttgaccttCaggaaacattagttaaaatt	14	14	7	6	0	2	2	1	1	1	1	2	3	2	3	1	2	2	2	1	2	5	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:56129470C>T	ENST00000275603.4	+	12	1597	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	CCT6A_ENST00000335503.3_Nonsense_Mutation_p.Q415*|CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000540286.1_Nonsense_Mutation_p.Q429*	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	460					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTGACCTTCAGGAAACATT	0.343													8	38					0	0	0	0	T	56129470	C	T	56129470	4	4	489	1	0	0	0	0	0	1	0	0	2986	827	29	2	1424	2	CCT6A	7	56129470	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3025574	56129470	103009193	281	94393											
ZNF679	168417	broad.mit.edu	37	chr7	63727167	63727167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacaaatgtgaagaatgtGacaaagcttttaagtggtcc	14	11	9	7	0	0	3	0	2	0	1	1	3	1	3	2	1	2	1	2	1	6	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:63727167G>A	ENST00000421025.1	+	5	1425	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ZNF679_ENST00000255746.4_Missense_Mutation_p.D386N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGAAGAATGTGACAAAGCTTT	0.388													3	26					0	0	0	0	A	63727167	G	A	63727167	3	1	489	1	0	0	0	0	1	0	0	0	18181	1290	45	2	1170	2	ZNF679	7	63727167	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	7597697	63727167	95411496	282	94394											
SBDS	51119	broad.mit.edu	37	chr7	66456190	66456190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggcttgagcttttctttCagcttcttgccttcattgac	5	18	8	10	0	4	2	2	2	2	0	4	2	4	2	1	1	3	3	1	1	0	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:66456190C>T	ENST00000246868.2	-	4	741	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	186					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GCTTTTCTTTCAGCTTCTTGC	0.388			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				35	86					0	0	0	0	T	66456190	C	T	66456190	2	4	489	1	0	0	0	0	0	0	0	1	13943	813	29	2		2	SBDS	7	66456190	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2729023	66456190	92682473	283	94395											
BAZ1B	9031	broad.mit.edu	37	chr7	72863971	72863971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctcagacaaaacaggTggaaggctttattacactca	13	8	9	11	1	2	1	2	0	0	1	2	2	2	2	2	4	2	1	2	4	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:72863971T>A	ENST00000339594.4	-	15	3967	c.3629A>T	c.(3628-3630)cAc>cTc	p.H1210L	BAZ1B_ENST00000404251.1_Missense_Mutation_p.H1210L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1210					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACAAAACAGGTGGAAGGCTTT	0.522													19	57					0	0	0	0	A	72863971	T	A	72863971	3	1	489	1	0	0	0	0	1	0	0	0	1334	1696	59	5	842	5	BAZ1B	7	72863971	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	6407781	72863971	86274692	284	94396											
STX1A	6804	broad.mit.edu	37	chr7	73118703	73118703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttccggatcctcaggtCagcggaggagcggttcaggc	6	9	15	11	3	4	0	3	0	1	0	6	3	6	3	2	6	2	1	2	6	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:73118703C>A	ENST00000222812.3	-	5	360	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Missense_Mutation_p.D112Y|STX1A_ENST00000395155.3_Missense_Mutation_p.D112Y|STX1A_ENST00000395156.3_Missense_Mutation_p.D112Y	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	112					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATCCTCAGGTCAGCGGAGGAG	0.652													10	54					1.58986e-06	1.63449e-06	1	0	A	73118703	C	A	73118703	3	1	489	1	0	0	0	0	1	0	0	0	15433	826	29	2	556	2	STX1A	7	73118703	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	254732	73118703	86019960	285	94397											
POR	5447	broad.mit.edu	37	chr7	75608783	75608783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttaggggaggaacatcatCgtgttctacggctcccagac	9	9	11	12	2	2	1	1	0	1	1	4	3	3	3	2	4	2	2	2	4	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:75608783C>T	ENST00000394893.1	+	4	272	c.252C>T	c.(250-252)atC>atT	p.I84I	POR_ENST00000419840.1_5'UTR|POR_ENST00000461988.1_Silent_p.I84I|POR_ENST00000475509.1_3'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	81	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GGAACATCATCGTGTTCTACG	0.647													8	34					0	0	0	0	T	75608783	C	T	75608783	2	4	489	1	0	0	0	0	0	0	0	1	12329	874	31	1		1	POR	7	75608783	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2490080	75608783	83529880	286	94398											
CCDC146	57639	broad.mit.edu	37	chr7	76797037	76797037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggaagaggagaaagatGaaaaggatcaagagcccatt	20	4	13	4	0	1	6	1	1	0	5	1	9	1	8	1	3	1	0	1	3	6	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:76797037G>A	ENST00000285871.4	+	2	179	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	18										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGAGAAAGATGAAAAGGATCA	0.358													7	72					0	0	0	0	A	76797037	G	A	76797037	3	1	489	1	0	0	0	0	1	0	0	0	2805	1291	45	2	54	2	CCDC146	7	76797037	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1188254	76797037	82341626	287	94399											
FGL2	10875	broad.mit.edu	37	chr7	76825626	76825626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgcttgggtctgatcatCatcttagcctctttgaagga	9	14	10	8	0	5	2	2	2	3	0	5	3	5	3	1	2	2	1	1	2	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:76825626C>T	ENST00000248598.5	-	2	1322	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	430	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GTCTGATCATCATCTTAGCCT	0.443													6	24					0	0	0	0	T	76825626	C	T	76825626	3	4	489	1	0	0	0	0	1	0	0	0	5918	826	29	2	33	2	FGL2	7	76825626	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	28589	76825626	82313037	288	94400											
SEMA3C	10512	broad.mit.edu	37	chr7	80418629	80418629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaaatatttacctgttccGagaaacaggacatggtatct	13	12	7	9	1	2	1	1	0	1	1	3	3	3	2	2	2	2	2	2	2	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:80418629G>A	ENST00000265361.3	-	12	1908	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	SEMA3C_ENST00000419255.2_Silent_p.L449L|SEMA3C_ENST00000544525.1_Silent_p.L467L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	449	Sema.				immune response|response to drug	membrane	receptor activity	p.L449L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TACCTGTTCCGAGAAACAGGA	0.393													31	105					0	0	0	0	A	80418629	G	A	80418629	2	1	489	1	0	0	0	0	0	0	0	1	14113	1045	37	1		1	SEMA3C	7	80418629	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3593003	80418629	78720034	289	94401											
CACNA2D1	781	broad.mit.edu	37	chr7	81593573	81593573	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtgcagcaccgggctCacatactgactgataatcat	10	12	9	10	1	2	2	2	2	0	0	2	2	2	2	1	2	3	3	1	2	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:81593573C>A	ENST00000356860.3	-	33	3015	c.2677G>T	c.(2677-2679)Gag>Tag	p.E893*	CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.E905*|CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.E105*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	905						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCACCGGGCTCACATACTGAC	0.418													5	107					0.000602214	0.000609144	1	0	A	81593573	C	A	81593573	4	1	489	1	0	0	0	0	0	1	0	0	2573	835	29	2	626	2	CACNA2D1	7	81593573	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1174944	81593573	77545090	290	94402											
SEMA3A	10371	broad.mit.edu	37	chr7	83675760	83675760	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagagtataattctccatCtgtgttgtgacaaaaccaca	13	12	6	10	0	2	2	0	1	2	1	4	2	3	2	3	0	1	2	3	0	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:83675760C>G	ENST00000265362.3	-	6	862		c.e6-1		SEMA3A_ENST00000436949.1_Splice_Site	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AATTCTCCATCTGTGTTGTGA	0.398													35	119					0	0	0	0	G	83675760	C	G	83675760	5	3	489	1	0	0	0	0	0	0	1	0	14111	927	32	2	1816	2	SEMA3A	7	83675760	Splice_Site	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2082187	83675760	75462903	291	94403											
SGCE	8910	broad.mit.edu	37	chr7	94230021	94230021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggaccagtgccactgccGagggcacagccagtgtaatt	12	6	12	11	1	0	0	0	0	0	0	0	2	0	1	4	2	3	2	4	2	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:94230021G>A	ENST00000415788.2	-	8	1169	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	SGCE_ENST00000428696.2_Missense_Mutation_p.S325L|SGCE_ENST00000437425.2_Missense_Mutation_p.S284L|SGCE_ENST00000445866.2_Missense_Mutation_p.S325L|SGCE_ENST00000265735.7_Missense_Mutation_p.S325L|SGCE_ENST00000447873.1_Missense_Mutation_p.S325L			O43556	SGCE_HUMAN	sarcoglycan, epsilon	325					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCACTGCCGAGGGCACAGC	0.433													16	73					0	0	0	0	A	94230021	G	A	94230021	3	1	489	1	0	0	0	0	1	0	0	0	14289	1059	37	1	511	1	SGCE	7	94230021	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	10554261	94230021	64908642	292	94404											
PMPCB	9512	broad.mit.edu	37	chr7	102937969	102937969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcggcggctctggggtttCagcgagagtcttctaatccg	5	10	15	11	5	4	1	1	0	3	1	5	2	5	1	1	5	1	2	1	5	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:102937969C>T	ENST00000249269.4	+	1	101	c.63C>T	c.(61-63)ttC>ttT	p.F21F	PMPCB_ENST00000428154.1_Silent_p.F21F|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	21					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGGGTTTCAGCGAGAGTC	0.647											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	25					0	0	0	0	T	102937969	C	T	102937969	2	4	489	1	0	0	0	0	0	0	0	1	12213	825	29	2		2	PMPCB	7	102937969	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8707948	102937969	56200694	293	94405											
RELN	5649	broad.mit.edu	37	chr7	103236934	103236934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtctgaaaagtacatctCtgctagcaggtgccactgga	12	9	11	9	0	2	1	0	1	2	0	3	3	2	2	1	2	4	3	1	2	5	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:103236934C>T	ENST00000428762.1	-	25	3667	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	RELN_ENST00000343529.5_Missense_Mutation_p.E1170K|RELN_ENST00000424685.2_Missense_Mutation_p.E1170K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1170					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTACATCTCTGCTAGCAGG	0.502													15	54					0	0	0	0	T	103236934	C	T	103236934	3	4	489	1	0	0	0	0	1	0	0	0	13302	922	32	2	7038	2	RELN	7	103236934	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	298965	103236934	55901729	294	94406											
GRM8	2918	broad.mit.edu	37	chr7	126173421	126173421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcaaatattcggtggataCggtttgttttggtcagaagg	9	14	13	5	2	2	1	2	0	0	1	3	2	2	2	0	5	1	3	0	5	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:126173421C>T	ENST00000339582.2	-	9	2823	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	GRM8_ENST00000358373.3_Missense_Mutation_p.R672H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R672H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	672					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCGGTGGATACGGTTTGTTTT	0.493										HNSCC(24;0.065)			21	87					0	0	0	0	T	126173421	C	T	126173421	3	4	489	1	0	0	0	0	1	0	0	0	6853	536	19	1	773	1	GRM8	7	126173421	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	22936487	126173421	32965242	295	94407											
GRM8	2918	broad.mit.edu	37	chr7	126542666	126542666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccaaaattctcctcccaGaattctgcaaaccacacatt	14	9	3	15	0	2	1	0	0	2	1	4	1	3	1	4	0	3	1	4	0	4	3	rs140268894	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:126542666G>A	ENST00000339582.2	-	6	1894	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	GRM8_ENST00000405249.1_Silent_p.F362F|GRM8_ENST00000358373.3_Silent_p.F362F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.F362F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	362			F -> Y.		negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCCTCCCAGAATTCTGCAA	0.378										HNSCC(24;0.065)			13	73					0	0	0	0	A	126542666	G	A	126542666	2	1	489	1	0	0	0	0	0	0	0	1	6853	933	33	2		2	GRM8	7	126542666	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	369245	126542666	32595997	296	94408											
METTL2B	55798	broad.mit.edu	37	chr7	128138151	128138151	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggggggatggtacttctgCgagattacggccgctatgac	7	10	15	9	3	1	2	0	1	1	1	1	4	1	3	1	5	3	2	1	5	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:128138151C>T	ENST00000480046.1	+	6	791	c.676C>T	c.(676-678)Cga>Tga	p.R226*	METTL2B_ENST00000262432.8_Nonsense_Mutation_p.R291*			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	291							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTACTTCTGCGAGATTACGG	0.478													25	68					0	0	0	0	T	128138151	C	T	128138151	4	4	489	1	0	0	0	0	0	1	0	0	9569	760	27	1	897	1	METTL2B	7	128138151	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1595485	128138151	31000512	297	94409											
MEST	4232	broad.mit.edu	37	chr7	130138034	130138034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgtggaagcgcttttgCggcatctggggctccagaac	7	9	14	11	3	1	1	0	0	1	1	3	2	2	2	1	4	3	4	1	4	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:130138034C>T	ENST00000223215.4	+	5	615	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	MEST_ENST00000416162.2_Missense_Mutation_p.R123W|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000437945.1_Missense_Mutation_p.R132W|MEST_ENST00000393187.1_Missense_Mutation_p.R123W|MEST_ENST00000378576.4_Missense_Mutation_p.R123W|MEST_ENST00000341441.4_Missense_Mutation_p.R123W|MEST_ENST00000462132.1_3'UTR	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	132					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGCGCTTTTGCGGCATCTGGG	0.498													18	111					0	0	0	0	T	130138034	C	T	130138034	3	4	489	1	0	0	0	0	1	0	0	0	9553	759	27	1	412	1	MEST	7	130138034	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1999883	130138034	29000629	298	94410											
TRPV6	55503	broad.mit.edu	37	chr7	142573563	142573563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggactgctcatcccctGaggagtcgatctctgtgagg	7	9	14	11	1	2	2	1	2	1	0	5	5	3	4	2	3	1	2	2	3	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:142573563G>A	ENST00000359396.3	-	7	1102	c.857C>T	c.(856-858)tCa>tTa	p.S286L		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	286					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCATCCCCTGAGGAGTCGAT	0.562													44	73					0	0	0	0	A	142573563	G	A	142573563	3	1	489	1	0	0	0	0	1	0	0	0	16695	1294	45	2	1356	2	TRPV6	7	142573563	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12435529	142573563	16565100	299	94411											
SHH	6469	broad.mit.edu	37	chr7	155604655	155604655	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccgctggcgcctagggtCttctcggccacattggggat	4	11	13	13	3	2	0	0	0	2	0	4	1	3	1	3	5	0	1	3	5	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:155604655C>G	ENST00000297261.2	-	1	312	c.162G>C	c.(160-162)aaG>aaC	p.K54N		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	54					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCTAGGGTCTTCTCGGCCA	0.552													54	125					0	0	0	0	G	155604655	C	G	155604655	3	3	489	1	0	0	0	0	1	0	0	0	14367	912	32	2	1238	2	SHH	7	155604655	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	13031092	155604655	3534008	300	94412											
PTPRN2	5799	broad.mit.edu	37	chr7	157959963	157959963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacataggtcaggatgctCtcggagaagcggtcatcacc	10	7	12	12	2	4	1	3	0	1	1	5	3	4	2	2	4	2	1	2	4	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:157959963C>G	ENST00000389413.3	-	6	673	c.570G>C	c.(568-570)gaG>gaC	p.E190D	PTPRN2_ENST00000389418.4_Missense_Mutation_p.E190D|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E152D|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E213D|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E173D	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	190						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGGATGCTCTCGGAGAAGC	0.622													18	32					0	0	0	0	G	157959963	C	G	157959963	3	3	489	1	0	0	0	0	1	0	0	0	12890	912	32	2	2549	2	PTPRN2	7	157959963	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2355308	157959963	1178700	301	94413											
TNKS	8658	broad.mit.edu	37	chr8	9567785	9567785	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactgagcagccagctgctCttaacactgcttctctctct	7	12	7	15	0	3	1	0	1	3	0	5	1	3	1	1	0	6	5	1	0	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:9567785C>G	ENST00000520408.1	+	11	1830	c.1804C>G	c.(1804-1806)Ctt>Gtt	p.L602V	TNKS_ENST00000310430.6_Intron|TNKS_ENST00000518281.1_Intron			O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	595					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCCAGCTGCTCTTAACACTGC	0.433													9	31					0	0	0	0	G	9567785	C	G	9567785	3	3	489	1	0	0	0	0	1	0	0	0	16413	928	32	2		2	TNKS	8	9567785	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		9567785	136796237	302	94414											
MTUS1	57509	broad.mit.edu	37	chr8	17504494	17504494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgttttatttttaccttGagattgccatgtgcttgtcc	6	19	7	9	0	0	1	0	1	0	1	1	2	1	1	3	0	3	2	3	0	2	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:17504494G>A	ENST00000381869.3	-	13	3907	c.3434C>T	c.(3433-3435)tCa>tTa	p.S1145L	MTUS1_ENST00000519263.1_Missense_Mutation_p.S1145L|MTUS1_ENST00000297488.6_Missense_Mutation_p.S365L|MTUS1_ENST00000400046.1_Missense_Mutation_p.S271L|MTUS1_ENST00000381861.3_Missense_Mutation_p.S446L|MTUS1_ENST00000544260.1_Missense_Mutation_p.S344L|MTUS1_ENST00000262102.6_Missense_Mutation_p.S1199L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1199						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTTTTACCTTGAGATTGCCAT	0.488													24	73					0	0	0	0	A	17504494	G	A	17504494	3	1	489	1	0	0	0	0	1	0	0	0	10035	1294	45	2	224	2	MTUS1	8	17504494	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	7936709	17504494	128859528	303	94415											
NAT1	9	broad.mit.edu	37	chr8	18080136	18080136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaatctactcctttactCttaagcctcgaacaattgaa	15	12	4	10	1	2	1	0	1	2	0	4	3	3	1	2	0	4	0	2	0	8	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:18080136C>G	ENST00000539092.1	+	5	1271	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	NAT1_ENST00000535084.1_Missense_Mutation_p.L194V|NAT1_ENST00000517492.1_Missense_Mutation_p.L194V|NAT1_ENST00000518029.1_Missense_Mutation_p.L194V|NAT1_ENST00000541942.1_Missense_Mutation_p.L194V|NAT1_ENST00000545197.1_Missense_Mutation_p.L256V|NAT1_ENST00000307719.4_Missense_Mutation_p.L194V|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000520546.1_Missense_Mutation_p.L194V	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	194					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		CTCCTTTACTCTTAAGCCTCG	0.363													25	132					0	0	0	0	G	18080136	C	G	18080136	3	3	489	1	0	0	0	0	1	0	0	0	10243	913	32	2	776	2	NAT1	8	18080136	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	575642	18080136	128283886	304	94416											
INTS9	55756	broad.mit.edu	37	chr8	28651377	28651377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttggccacaggggagatGaagtagagggggacgctgga	10	6	19	6	1	0	3	0	1	0	2	0	6	0	5	1	6	0	3	1	6	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:28651377G>A	ENST00000416984.2	-	9	1280	c.921C>T	c.(919-921)ttC>ttT	p.F307F	INTS9_ENST00000397363.4_Silent_p.F222F|INTS9_ENST00000521022.1_Silent_p.F328F|INTS9_ENST00000521777.1_Silent_p.F304F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	328					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CAGGGGAGATGAAGTAGAGGG	0.468													14	62					0	0	0	0	A	28651377	G	A	28651377	2	1	489	1	0	0	0	0	0	0	0	1	7838	1281	45	2		2	INTS9	8	28651377	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	10571241	28651377	117712645	305	94417											
INTS9	55756	broad.mit.edu	37	chr8	28651413	28651413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaaagcccggctgagtcGatgtactgatataggcactc	10	9	12	10	2	0	2	0	2	0	0	2	4	0	3	1	3	2	3	1	3	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:28651413G>A	ENST00000416984.2	-	9	1244	c.885C>T	c.(883-885)atC>atT	p.I295I	INTS9_ENST00000397363.4_Silent_p.I210I|INTS9_ENST00000521022.1_Silent_p.I316I|INTS9_ENST00000521777.1_Silent_p.I292I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	316					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGGCTGAGTCGATGTACTGAT	0.527													20	72					0	0	0	0	A	28651413	G	A	28651413	2	1	489	1	0	0	0	0	0	0	0	1	7838	1048	37	1		1	INTS9	8	28651413	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	36	28651413	117712609	306	94418											
UBXN8	7993	broad.mit.edu	37	chr8	30614307	30614307	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaggtacaagtcagacatCttttgaaacatcaaacagag	17	9	8	7	0	3	4	2	2	1	2	3	4	3	4	0	1	3	1	0	1	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:30614307C>G	ENST00000519246.1	+	0	630							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						AGTCAGACATCTTTTGAAACA	0.388													23	57					0	0	0	0	G	30614307	C	G	30614307	1	3	489	0	1	0	0	0	0	0	0	0	17015	913	32	2		2	UBXN8	8	30614307	RNA	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1962894	30614307	115749715	307	94419											
RP1	6101	broad.mit.edu	37	chr8	55540613	55540613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaatacattggtgtcacatCaaaatgtcagtaatttaagc	15	14	6	6	0	3	0	3	0	0	0	3	0	3	0	0	1	2	1	0	1	6	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:55540613C>G	ENST00000220676.1	+	4	4319	c.4171C>G	c.(4171-4173)Caa>Gaa	p.Q1391E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1391					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTGTCACATCAAAATGTCAG	0.323													23	72					0	0	0	0	G	55540613	C	G	55540613	3	3	489	1	0	0	0	0	1	0	0	0	13617	827	29	2	4181	2	RP1	8	55540613	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	24926306	55540613	90823409	308	94420											
XKR4	114786	broad.mit.edu	37	chr8	56015561	56015561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctggtttgtgcacgatttCagcaccgaggacagcgccac	8	8	12	13	4	1	0	1	0	0	0	1	3	1	1	2	2	3	4	2	2	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:56015561C>T	ENST00000327381.5	+	1	613	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	171						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCACGATTTCAGCACCGAGG	0.667											OREG0006933	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=XKR4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	14	28					0	0	0	0	T	56015561	C	T	56015561	2	4	489	1	0	0	0	0	0	0	0	1	17529	825	29	2		2	XKR4	8	56015561	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	474948	56015561	90348461	309	94421											
SULF1	23213	broad.mit.edu	37	chr8	70551084	70551084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaacccaagacctaagaatCttgatgttggtaaggaaaaa	17	8	9	7	0	1	3	0	1	1	2	1	4	1	4	2	2	1	3	2	2	7	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:70551084C>T	ENST00000260128.4	+	21	3259	c.2542C>T	c.(2542-2544)Ctt>Ttt	p.L848F	SULF1_ENST00000402687.4_Missense_Mutation_p.L848F|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.L848F|SULF1_ENST00000419716.3_Missense_Mutation_p.L848F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	848					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACCTAAGAATCTTGATGTTGG	0.378													22	73					0	0	0	0	T	70551084	C	T	70551084	3	4	489	1	0	0	0	0	1	0	0	0	15460	913	32	2	2608	2	SULF1	8	70551084	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	14535523	70551084	75812938	310	94422											
ZFHX4	79776	broad.mit.edu	37	chr8	77617634	77617634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtctagcaagatgtcagaGagcaaagaccaagagaacaa	19	4	11	7	0	2	4	1	0	1	4	2	7	2	4	1	0	3	2	1	0	6	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:77617634G>C	ENST00000521891.2	+	2	1759	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E437D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E437D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E437D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	437						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGATGTCAGAGAGCAAAGACC	0.498										HNSCC(33;0.089)			10	25					0	0	0	0	C	77617634	G	C	77617634	3	2	489	1	0	0	0	0	1	0	0	0	17730	933	33	2	1313	2	ZFHX4	8	77617634	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	7066550	77617634	68746388	311	94423											
PKHD1L1	93035	broad.mit.edu	37	chr8	110472020	110472020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagaggatctgataatgttGagtggaataacaaaattcct	16	12	9	4	0	1	3	0	2	1	1	2	5	2	5	1	2	1	1	1	2	6	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:110472020G>C	ENST00000378402.5	+	47	7305	c.7201G>C	c.(7201-7203)Gag>Cag	p.E2401Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2401					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGATAATGTTGAGTGGAATAA	0.363										HNSCC(38;0.096)			5	27					0	0	0	0	C	110472020	G	C	110472020	3	2	489	1	0	0	0	0	1	0	0	0	12044	1291	45	2	7387	2	PKHD1L1	8	110472020	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	32854386	110472020	35892002	312	94424											
ZHX2	22882	broad.mit.edu	37	chr8	123963934	123963934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaagaaaacgaagtgataGaggtgaaatctatgggggaa	18	6	13	4	1	1	4	0	2	1	2	1	6	1	5	1	3	1	0	1	3	8	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:123963934G>C	ENST00000314393.4	+	3	1019	c.184G>C	c.(184-186)Gag>Cag	p.E62Q		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	62						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAAGTGATAGAGGTGAAATC	0.493													10	30					0	0	0	0	C	123963934	G	C	123963934	3	2	489	1	0	0	0	0	1	0	0	0	17771	943	33	2	186	2	ZHX2	8	123963934	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	13491914	123963934	22400088	313	94425											
ADCY8	114	broad.mit.edu	37	chr8	131793005	131793005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctcctctgggacttggatCcggccactaacccccgtgct	5	10	10	16	2	2	0	0	0	2	0	4	2	3	2	5	3	2	1	5	3	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:131793005C>T	ENST00000286355.5	-	18	5479	c.3387G>A	c.(3385-3387)cgG>cgA	p.R1129R	ADCY8_ENST00000377928.3_Silent_p.R998R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGACTTGGATCCGGCCACTAA	0.527										HNSCC(32;0.087)			37	135					0	0	0	0	T	131793005	C	T	131793005	2	4	489	1	0	0	0	0	0	0	0	1	300	842	30	2		2	ADCY8	8	131793005	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7829071	131793005	14571017	314	94426											
ADCY8	114	broad.mit.edu	37	chr8	131826440	131826440	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttggcctgtactcGccaaaggaagtccaggcggg	7	9	12	13	2	1	0	0	0	1	0	4	1	3	1	4	4	1	1	4	4	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:131826440G>A	ENST00000286355.5	-	14	4880	c.2788C>T	c.(2788-2790)Cga>Tga	p.R930*	ADCY8_ENST00000377928.3_Nonsense_Mutation_p.R799*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	930					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R930*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCTGTACTCGCCAAAGGAAG	0.512										HNSCC(32;0.087)			21	87					0	0	0	0	A	131826440	G	A	131826440	4	1	489	1	0	0	0	0	0	1	0	0	300	1095	38	1	987	1	ADCY8	8	131826440	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	33435	131826440	14537582	315	94427											
TG	7038	broad.mit.edu	37	chr8	134145740	134145740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactacccttatgagttctCacggaaagtacccacatttg	12	11	6	12	1	1	1	1	1	1	0	2	2	1	2	2	1	3	2	2	1	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:134145740C>T	ENST00000220616.4	+	47	8064	c.8024C>T	c.(8023-8025)tCa>tTa	p.S2675L	TG_ENST00000542445.1_Missense_Mutation_p.S1045L|TG_ENST00000377869.1_Missense_Mutation_p.S2618L|TG_ENST00000519543.1_Missense_Mutation_p.S808L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2675					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATGAGTTCTCACGGAAAGTA	0.478													19	70					0	0	0	0	T	134145740	C	T	134145740	3	4	489	1	0	0	0	0	1	0	0	0	15907	838	29	2	8210	2	TG	8	134145740	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2319300	134145740	12218282	316	94428											
COL22A1	169044	broad.mit.edu	37	chr8	139707101	139707101	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctggatcgcccttctCtcctttgggcccttgttctc	2	14	9	16	1	2	0	0	0	2	0	6	1	3	1	4	3	0	1	4	3	0	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:139707101C>A	ENST00000303045.6	-	33	3060	c.2614G>T	c.(2614-2616)Gag>Tag	p.E872*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E872*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	872	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCGCCCTTCTCTCCTTTGGGC	0.617										HNSCC(7;0.00092)			9	31					4.1943e-16	4.47426e-16	1	0	A	139707101	C	A	139707101	4	1	489	1	0	0	0	0	0	1	0	0	3711	922	32	2	2398	2	COL22A1	8	139707101	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5561361	139707101	6656921	317	94429											
SMARCA2	6595	broad.mit.edu	37	chr9	2186186	2186186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtgaggatgaaagcaatGaagaggaggaagaggaagat	19	4	17	1	0	0	7	0	3	0	4	0	11	0	11	0	4	1	1	0	4	5	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:2186186G>A	ENST00000382203.1	+	32	4761	c.4552G>A	c.(4552-4554)Gaa>Aaa	p.E1518K	SMARCA2_ENST00000302401.3_Missense_Mutation_p.E206K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1518K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1500K|SMARCA2_ENST00000382186.1_Missense_Mutation_p.E182K|SMARCA2_ENST00000382185.1_Missense_Mutation_p.E164K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1500K|SMARCA2_ENST00000324954.5_Missense_Mutation_p.E164K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1518	Poly-Glu.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		tgaaagcaatgaagaggagga	0.483													20	222					0	0	0	0	A	2186186	G	A	2186186	3	1	489	1	0	0	0	0	1	0	0	0	14857	1291	45	2	4674	2	SMARCA2	9	2186186	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		2186186	139027245	318	94430											
INSL6	11172	broad.mit.edu	37	chr9	5185354	5185354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggccggggaagcggtttgCgggctttcgaactggtatgg	5	9	19	8	5	0	0	0	0	0	0	1	2	0	1	1	7	3	3	1	7	3	3	rs146054352	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:5185354C>T	ENST00000381641.3	-	1	314	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	83						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAGCGGTTTGCGGGCTTTCGA	0.527													8	588					0	0	0	0	T	5185354	C	T	5185354	2	4	489	1	0	0	0	0	0	0	0	1	7823	755	27	1		1	INSL6	9	5185354	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2999168	5185354	136028077	319	94431											
KIAA2026	158358	broad.mit.edu	37	chr9	5988525	5988525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctagatgtaactgctatcGttgtcttttctctcaagtgc	7	17	7	10	1	4	1	1	0	3	1	6	1	4	1	0	0	3	3	0	0	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:5988525G>A	ENST00000399933.3	-	2	613	c.614C>T	c.(613-615)aCg>aTg	p.T205M	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T205M	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	205										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTGCTATCGTTGTCTTTTC	0.448													4	122					0	0	0	0	A	5988525	G	A	5988525	3	1	489	1	0	0	0	0	1	0	0	0	8321	1145	40	1	5725	1	KIAA2026	9	5988525	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	803171	5988525	135224906	320	94432											
RANBP6	26953	broad.mit.edu	37	chr9	6013702	6013702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagtcttaataagaggctCgataaccagtggaaggtact	14	9	11	7	1	1	1	0	0	1	1	2	3	1	2	1	3	3	3	1	3	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:6013702C>T	ENST00000259569.5	-	1	1916	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	636					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATAAGAGGCTCGATAACCAGT	0.413													40	452					0	0	0	0	T	6013702	C	T	6013702	3	4	489	1	0	0	0	0	1	0	0	0	13113	893	31	1	1415	1	RANBP6	9	6013702	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	25177	6013702	135199729	321	94433											
MPDZ	8777	broad.mit.edu	37	chr9	13216801	13216801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggtctccaatttggattCttccatcatgctcaacggca	8	15	7	11	1	4	0	2	0	2	0	6	1	5	1	2	3	2	2	2	3	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:13216801C>T	ENST00000319217.7	-	10	1509	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	MPDZ_ENST00000536827.1_Missense_Mutation_p.R421K|MPDZ_ENST00000541718.1_Missense_Mutation_p.R421K|MPDZ_ENST00000546205.1_Missense_Mutation_p.R421K|MPDZ_ENST00000381015.4_Missense_Mutation_p.R421K|MPDZ_ENST00000447879.1_Missense_Mutation_p.R421K|MPDZ_ENST00000381022.2_Missense_Mutation_p.R421K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	421	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AATTTGGATTCTTCCATCATG	0.313													4	38					0	0	0	0	T	13216801	C	T	13216801	3	4	489	1	0	0	0	0	1	0	0	0	9792	913	32	2	5011	2	MPDZ	9	13216801	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7203099	13216801	127996630	322	94434											
PSIP1	11168	broad.mit.edu	37	chr9	15468728	15468728	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcagcaagagatttattCagcacttgggtgatcacgga	11	12	11	7	1	3	2	3	1	0	1	3	4	3	3	0	2	2	3	0	2	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468728C>T	ENST00000380733.4	-	14	1663	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	PSIP1_ENST00000380738.4_Silent_p.L440L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	440					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GAGATTTATTCAGCACTTGGG	0.388													36	161					0	0	0	0	T	15468728	C	T	15468728	2	4	489	1	0	0	0	0	0	0	0	1	12742	813	29	2		2	PSIP1	9	15468728	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2251927	15468728	125744703	323	94435			3	157		3	3	251	C		1.626471e-05
PSIP1	11168	broad.mit.edu	37	chr9	15468961	15468961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaatcacttacttttttCagtgtagtaatcatctctgt	10	19	5	7	0	4	1	3	1	1	0	5	1	4	1	0	0	1	2	0	0	4	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468961C>T	ENST00000380733.4	-	13	1543	c.1200G>A	c.(1198-1200)ctG>ctA	p.L400L	PSIP1_ENST00000380738.4_Silent_p.L400L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	400					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTACTTTTTTCAGTGTAGTAA	0.328													13	35					0	0	0	0	T	15468961	C	T	15468961	2	4	489	1	0	0	0	0	0	0	0	1	12742	813	29	2		2	PSIP1	9	15468961	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	233	15468961	125744470	324	94436			3	157		3	3	251	C		1.626471e-05
PSIP1	11168	broad.mit.edu	37	chr9	15468978	15468978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcagtgtagtaatcatctCtgtgtgtttctgagcttgtt	6	20	9	6	0	4	1	2	1	2	0	5	1	4	1	0	0	1	5	0	0	2	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468978C>T	ENST00000380733.4	-	13	1526	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	PSIP1_ENST00000380738.4_Missense_Mutation_p.E395K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	395					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTAATCATCTCTGTGTGTTTC	0.328													9	35					0	0	0	0	T	15468978	C	T	15468978	3	4	489	1	0	0	0	0	1	0	0	0	12742	922	32	2	425	2	PSIP1	9	15468978	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	17	15468978	125744453	325	94437			3	157		3	3	251	C		1.626471e-05
CNTLN	54875	broad.mit.edu	37	chr9	17332671	17332671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagactcagaagagctacaGaagctgagaaaagctgaaag	19	4	11	7	0	1	6	1	2	0	5	1	7	1	6	0	0	4	3	0	0	6	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:17332671G>C	ENST00000380647.3	+	10	1671	c.1587G>C	c.(1585-1587)caG>caC	p.Q529H	CNTLN_ENST00000262360.5_Missense_Mutation_p.Q529H|CNTLN_ENST00000425824.1_Missense_Mutation_p.Q529H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	529						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGCTACAGAAGCTGAGAA	0.383													30	79					0	0	0	0	C	17332671	G	C	17332671	3	2	489	1	0	0	0	0	1	0	0	0	3669	933	33	2	1655	2	CNTLN	9	17332671	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1863693	17332671	123880760	326	94438											
CNTLN	54875	broad.mit.edu	37	chr9	17332691	17332691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagctgagaaaagctgaaaGaaagattgaaaacttagaga	21	6	11	3	0	0	6	0	3	0	4	0	9	0	6	0	0	3	2	0	0	8	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:17332691G>A	ENST00000380647.3	+	10	1691	c.1607G>A	c.(1606-1608)aGa>aAa	p.R536K	CNTLN_ENST00000262360.5_Missense_Mutation_p.R536K|CNTLN_ENST00000425824.1_Missense_Mutation_p.R536K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	536						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAAGCTGAAAGAAAGATTGAA	0.363													31	77					0	0	0	0	A	17332691	G	A	17332691	3	1	489	1	0	0	0	0	1	0	0	0	3669	942	33	2	1675	2	CNTLN	9	17332691	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	20	17332691	123880740	327	94439											
PLAA	9373	broad.mit.edu	37	chr9	26905634	26905634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtacagcatttgaatcatCactgataagtgttccaagag	13	13	8	7	0	2	3	2	2	0	1	3	3	3	3	1	0	2	3	1	0	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:26905634C>T	ENST00000397292.3	-	14	2680	c.2263G>A	c.(2263-2265)Gat>Aat	p.D755N		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	755	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTTGAATCATCACTGATAAGT	0.373													21	88					0	0	0	0	T	26905634	C	T	26905634	3	4	489	1	0	0	0	0	1	0	0	0	12083	826	29	2	128	2	PLAA	9	26905634	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	9572943	26905634	114307797	328	94440											
PLAA	9373	broad.mit.edu	37	chr9	26905734	26905734	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtgacaaacattgggctttCccttcaatgttatggtcttt	9	16	8	8	0	2	1	1	1	1	0	3	1	3	1	1	2	1	2	1	2	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:26905734C>G	ENST00000397292.3	-	14	2580	c.2163G>C	c.(2161-2163)ggG>ggC	p.G721G		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	721	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATTGGGCTTTCCCTTCAATGT	0.393													25	95					0	0	0	0	G	26905734	C	G	26905734	2	3	489	1	0	0	0	0	0	0	0	1	12083	842	30	2		2	PLAA	9	26905734	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	100	26905734	114307697	329	94441											
FOXB2	442425	broad.mit.edu	37	chr9	79634744	79634744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcacacacagcgctggcaGaacagcctgcgccacaacct	12	3	10	16	2	0	1	0	0	0	1	0	2	0	1	3	1	6	3	3	1	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:79634744G>A	ENST00000376708.1	+	1	174	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	58					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						AGCGCTGGCAGAACAGCCTGC	0.612													8	38					0	0	0	0	A	79634744	G	A	79634744	2	1	489	1	0	0	0	0	0	0	0	1	6038	933	33	2		2	FOXB2	9	79634744	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	52729010	79634744	61578687	330	94442											
SEMA4D	10507	broad.mit.edu	37	chr9	92003690	92003690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttgtaggcgcacactgccGacagccccacgttgttcctg	6	9	12	14	3	0	0	0	0	0	0	1	1	1	0	4	2	2	5	4	2	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:92003690G>A	ENST00000450295.1	-	11	1744	c.968C>T	c.(967-969)tCg>tTg	p.S323L	SEMA4D_ENST00000438547.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S323L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S323L|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S323L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S323L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	323	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCACACTGCCGACAGCCCCAC	0.627													8	34					0	0	0	0	A	92003690	G	A	92003690	3	1	489	1	0	0	0	0	1	0	0	0	14121	1059	37	1	2214	1	SEMA4D	9	92003690	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12368946	92003690	49209741	331	94443											
C9orf3	84909	broad.mit.edu	37	chr9	97823003	97823003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaccagctggtcttgcttCtggagcatctcttggagcag	7	11	12	11	0	3	1	0	0	3	1	4	3	3	3	1	3	4	4	1	3	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:97823003C>T	ENST00000375315.2	+	13	2143	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	C9orf3_ENST00000297979.5_Silent_p.L616L|C9orf3_ENST00000433691.2_Silent_p.L56L|C9orf3_ENST00000425634.2_Silent_p.L77L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	715					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTGCTTCTGGAGCATCT	0.488													23	77					0	0	0	0	T	97823003	C	T	97823003	2	4	489	1	0	0	0	0	0	0	0	1	2502	912	32	2		2	C9orf3	9	97823003	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5819313	97823003	43390428	332	94444											
PTCH1	5727	broad.mit.edu	37	chr9	98242255	98242255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggagctggcttacctgaCgagttttccagtgctgttct	5	14	12	10	2	1	1	0	1	1	0	3	3	2	2	2	2	3	5	2	2	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:98242255C>T	ENST00000430669.2	-	7	1450	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	PTCH1_ENST00000418258.1_Missense_Mutation_p.V204I|PTCH1_ENST00000331920.6_Missense_Mutation_p.V355I|PTCH1_ENST00000429896.2_Missense_Mutation_p.V204I|PTCH1_ENST00000437951.1_Missense_Mutation_p.V289I|PTCH1_ENST00000421141.1_Missense_Mutation_p.V204I|PTCH1_ENST00000375274.2_Missense_Mutation_p.V354I			Q13635	PTC1_HUMAN	patched 1	355					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V355fs*82(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTTACCTGACGAGTTTTCCA	0.468													28	80					0	0	0	0	T	98242255	C	T	98242255	3	4	489	1	0	0	0	0	1	0	0	0	12809	536	19	1	3348	1	PTCH1	9	98242255	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	419252	98242255	42971176	333	94445											
TSTD2	158427	broad.mit.edu	37	chr9	100388016	100388016	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggagccaagcagacacGtcatggctatgtggaaggca	12	6	14	9	1	2	1	2	0	0	1	2	3	2	3	1	4	2	3	1	4	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:100388016G>A	ENST00000375172.2	-	0	629				TSTD2_ENST00000341170.4_Silent_p.D143D|TSTD2_ENST00000375163.1_De_novo_Start_OutOfFrame|TSTD2_ENST00000354801.2_De_novo_Start_OutOfFrame|TSTD2_ENST00000375165.1_De_novo_Start_OutOfFrame			Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2											large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AAGCAGACACGTCATGGCTAT	0.393													39	169					0	0	0	0	A	100388016	G	A	100388016	1	1	489	1	0	0	0	0	0	0	0	0	16771	1136	40	1		1	TSTD2	9	100388016	Translation_Start_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2145761	100388016	40825415	334	94446											
CORO2A	7464	broad.mit.edu	37	chr9	100892109	100892109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggttataggagcggtactCagtcaggtagctcaggtgag	9	10	16	6	1	3	1	3	1	0	0	3	2	3	2	0	5	3	4	0	5	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:100892109C>T	ENST00000343933.5	-	8	1191	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CORO2A_ENST00000375077.4_Missense_Mutation_p.E312K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	312					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGCGGTACTCAGTCAGGTAG	0.562													45	160					0	0	0	0	T	100892109	C	T	100892109	3	4	489	1	0	0	0	0	1	0	0	0	3786	835	29	2	663	2	CORO2A	9	100892109	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	504093	100892109	40321322	335	94447											
IKBKAP	8518	broad.mit.edu	37	chr9	111674550	111674550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccaggagcttacttccatCaatgacagccacattggaca	12	9	7	13	0	1	1	1	1	0	0	3	3	3	3	3	2	3	1	3	2	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:111674550C>T	ENST00000374647.5	-	11	1490	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D46N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	395					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTACTTCCATCAATGACAGCC	0.537													18	41					0	0	0	0	T	111674550	C	T	111674550	3	4	489	1	0	0	0	0	1	0	0	0	7663	826	29	2	2923	2	IKBKAP	9	111674550	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	10782441	111674550	29538881	336	94448											
TLR4	7099	broad.mit.edu	37	chr9	120475341	120475341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtttgacaaatgtttcttCattttccctggtgagtgtga	7	19	9	6	0	2	3	1	3	1	0	3	3	3	3	1	1	0	2	1	1	1	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:120475341C>T	ENST00000355622.6	+	3	1036	c.935C>T	c.(934-936)tCa>tTa	p.S312L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S272L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	312					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AATGTTTCTTCATTTTCCCTG	0.328													30	89					0	0	0	0	T	120475341	C	T	120475341	3	4	489	1	0	0	0	0	1	0	0	0	16047	838	29	2	945	2	TLR4	9	120475341	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8800791	120475341	20738090	337	94449											
SPTAN1	6709	broad.mit.edu	37	chr9	131339775	131339775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagacatgcacggctcaatGattcatacaggtgcaaataa	16	8	9	8	1	2	2	2	1	0	1	2	3	2	2	0	2	3	3	0	2	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:131339775G>A	ENST00000372739.3	+	8	1185	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.D359N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D359N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	359					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACGGCTCAATGATTCATACAG	0.468													24	66					0	0	0	0	A	131339775	G	A	131339775	3	1	489	1	0	0	0	0	1	0	0	0	15207	1290	45	2	1101	2	SPTAN1	9	131339775	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	10864434	131339775	9873656	338	94450											
TSC1	7248	broad.mit.edu	37	chr9	135771804	135771804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggtcatgccgtcctcatCacactggctctcgctcttat	6	13	7	15	2	5	0	3	0	2	0	7	0	6	0	2	2	1	2	2	2	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:135771804C>T	ENST00000298552.3	-	23	3534	c.3313G>A	c.(3313-3315)Gat>Aat	p.D1105N	TSC1_ENST00000545250.1_Missense_Mutation_p.D1054N|TSC1_ENST00000440111.2_Missense_Mutation_p.D1105N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1105					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCGTCCTCATCACACTGGCTC	0.522			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				24	65					0	0	0	0	T	135771804	C	T	135771804	3	4	489	1	0	0	0	0	1	0	0	0	16700	826	29	2	185	2	TSC1	9	135771804	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4432029	135771804	5441627	339	94451											
SURF6	6838	broad.mit.edu	37	chr9	136199081	136199081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgctccagcagctgcCggtagttcctcccggtcagc	5	7	13	16	3	1	0	1	0	0	0	4	0	4	0	4	3	4	6	4	3	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:136199081C>T	ENST00000372022.4	-	5	975	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	237						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CAGCAGCTGCCGGTAGTTCCT	0.672													12	74					0	0	0	0	T	136199081	C	T	136199081	3	4	489	1	0	0	0	0	1	0	0	0	15496	652	23	1	379	1	SURF6	9	136199081	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	427277	136199081	5014350	340	94452											
SNAPC4	6621	broad.mit.edu	37	chr9	139292804	139292804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatctccacgtgggagcccGaggagccgggatccaaaatc	11	5	13	12	3	1	1	0	0	1	1	4	5	2	4	4	3	2	0	4	3	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:139292804G>A	ENST00000298532.2	-	1	445	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	26					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGGGAGCCCGAGGAGCCGGG	0.527													30	83					0	0	0	0	A	139292804	G	A	139292804	3	1	489	1	0	0	0	0	1	0	0	0	14925	1059	37	1	4420	1	SNAPC4	9	139292804	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3093723	139292804	1920627	341	94453											
NOTCH1	4851	broad.mit.edu	37	chr9	139396248	139396248	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgtcaacctcaccctGgggcggtgtgggggccatgg	4	7	18	12	3	2	0	2	0	0	0	3	0	2	0	3	7	1	0	3	7	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:139396248G>A	ENST00000277541.6	-	30	5665	c.5590C>T	c.(5590-5592)Cag>Tag	p.Q1864*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1864					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTCACCCTGGGGCGGTGTG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			19	15					0	0	0	0	A	139396248	G	A	139396248	4	1	489	1	0	0	0	0	0	1	0	0	10617	1357	47	4	2097	4	NOTCH1	9	139396248	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	103444	139396248	1817183	342	94454											
ENTPD8	377841	broad.mit.edu	37	chr9	140329381	140329381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccactagtcctgcaaccaGaagagctggaccaaggcagc	12	5	10	14	0	0	2	0	0	0	2	2	3	2	3	4	2	4	3	4	2	4	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:140329381G>A	ENST00000371506.2	-	10	1656	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ENTPD8_ENST00000472938.1_Silent_p.F491F|ENTPD8_ENST00000344119.2_Silent_p.F454F	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	491						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCTGCAACCAGAAGAGCTGGA	0.677													7	22					0	0	0	0	A	140329381	G	A	140329381	2	1	489	1	0	0	0	0	0	0	0	1	5183	933	33	2		2	ENTPD8	9	140329381	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	933133	140329381	884050	343	94455											
FBXO18	84893	broad.mit.edu	37	chr10	5963255	5963255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtggaaatagcttatgtggGagctactatcttggatgttt	9	16	12	4	0	1	0	0	0	1	0	1	3	1	3	0	3	3	3	0	3	5	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:5963255G>A	ENST00000379999.5	+	15	2392	c.2288G>A	c.(2287-2289)gGa>gAa	p.G763E	FBXO18_ENST00000362091.4_Missense_Mutation_p.G712E|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.G199E	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	712					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCTTATGTGGGAGCTACTATC	0.448													23	85					0	0	0	0	A	5963255	G	A	5963255	3	1	489	1	0	0	0	0	1	0	0	0	5776	1174	41	2	2351	2	FBXO18	10	5963255	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		5963255	129571492	344	94456											
PRKCQ	5588	broad.mit.edu	37	chr10	6527218	6527218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagatctgttcagtatctCttaagcagcgagcctggatg	10	12	11	8	1	3	2	1	1	2	1	4	4	3	3	1	1	3	3	1	1	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:6527218C>G	ENST00000263125.5	-	10	1013	c.914G>C	c.(913-915)aGa>aCa	p.R305T	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R180T|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R305T	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	305					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCAGTATCTCTTAAGCAGCG	0.507													34	81					0	0	0	0	G	6527218	C	G	6527218	3	3	489	1	0	0	0	0	1	0	0	0	12595	913	32	2	1242	2	PRKCQ	10	6527218	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	563963	6527218	129007529	345	94457											
SFMBT2	57713	broad.mit.edu	37	chr10	7423790	7423790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctccatttccattagctGagccgagacacttttccaag	9	12	8	12	1	1	2	0	1	1	1	4	3	3	2	4	1	2	1	4	1	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:7423790G>A	ENST00000361972.4	-	2	161	c.71C>T	c.(70-72)tCa>tTa	p.S24L	SFMBT2_ENST00000379713.3_Missense_Mutation_p.S24L|SFMBT2_ENST00000397167.1_Missense_Mutation_p.S24L|SFMBT2_ENST00000397160.3_Missense_Mutation_p.S24L|SFMBT2_ENST00000379711.2_Missense_Mutation_p.S24L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	24					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCATTAGCTGAGCCGAGACA	0.408													11	59					0	0	0	0	A	7423790	G	A	7423790	3	1	489	1	0	0	0	0	1	0	0	0	14245	1294	45	2	2693	2	SFMBT2	10	7423790	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	896572	7423790	128110957	346	94458											
UPF2	26019	broad.mit.edu	37	chr10	12006030	12006030	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtacactggtcctcaggTgagattctggagatctgaaa	13	10	11	7	0	3	3	1	2	2	2	4	5	4	3	1	3	1	1	1	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:12006030T>A	ENST00000356352.2	-	10	2635	c.2162A>T	c.(2161-2163)cAc>cTc	p.H721L	UPF2_ENST00000357604.5_Missense_Mutation_p.H721L|UPF2_ENST00000397053.2_Missense_Mutation_p.H721L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	721	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGTCCTCAGGTGAGATTCTGG	0.453													41	130					0	0	0	0	A	12006030	T	A	12006030	3	1	489	1	0	0	0	0	1	0	0	0	17100	1696	59	5	1704	5	UPF2	10	12006030	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	4582240	12006030	123528717	347	94459											
SUV39H2	79723	broad.mit.edu	37	chr10	14923523	14923523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgtgccttgcctagtttCacttgatactcttcaggaat	7	16	9	9	0	3	1	2	1	1	0	3	2	3	2	2	1	3	1	2	1	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:14923523C>T	ENST00000378325.3	+	2	82	c.56C>T	c.(55-57)tCa>tTa	p.S19L	SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.S19L	NM_001193426.1|NM_001193427.1	NP_001180355.1|NP_001180356.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	19					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGCCTAGTTTCACTTGATACT	0.313													17	51					0	0	0	0	T	14923523	C	T	14923523	3	4	489	1	0	0	0	0	1	0	0	0	15503	841	29	2		2	SUV39H2	10	14923523	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2917493	14923523	120611224	348	94460											
DCLRE1C	64421	broad.mit.edu	37	chr10	14950616	14950616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatatgtgtctcactgcttaGagtagttggttctccagtac	8	16	9	8	0	2	1	1	0	2	1	4	1	2	1	1	1	2	5	1	1	5	7	rs11259389		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:14950616G>C	ENST00000453695.2	-	14	1954	c.1510C>G	c.(1510-1512)Cta>Gta	p.L504V	DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L277V|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.L624V|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L509V|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L509V|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L509V|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L504V	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	624					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCACTGCTTAGAGTAGTTGGT	0.388								Non-homologous end-joining					43	167					0	0	0	0	C	14950616	G	C	14950616	3	2	489	1	0	0	0	0	1	0	0	0	4328	933	33	2	212	2	DCLRE1C	10	14950616	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	27093	14950616	120584131	349	94461											
NSUN6	221078	broad.mit.edu	37	chr10	18903502	18903502	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttcttacattttcctttAatatcagagtatacagaaat	13	17	3	8	0	2	2	1	0	1	2	3	2	3	2	2	0	2	1	2	0	6	9			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:18903502A>T	ENST00000377304.4	-	5	880	c.462T>A	c.(460-462)atT>atA	p.I154I		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	154	PUA.						methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTTTCCTTTAATATCAGAGT	0.328													14	59					0	0	0	0	T	18903502	A	T	18903502	2	4	489	1	0	0	0	0	0	0	0	1	10753	358	13	5		5	NSUN6	10	18903502	Silent	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	3952886	18903502	116631245	350	94462											
KIAA1217	56243	broad.mit.edu	37	chr10	24762980	24762980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgacaatacccaaagacaGagagaccaggtaaggtgcag	16	3	13	9	1	0	3	0	0	0	3	0	5	0	3	2	3	2	2	2	3	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:24762980G>C	ENST00000376451.2	+	2	1084	c.824G>C	c.(823-825)aGa>aCa	p.R275T	KIAA1217_ENST00000396446.1_Missense_Mutation_p.R275T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R477T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R557T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R275T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R478T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R275T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R557T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R557T			Q5T5P2	SKT_HUMAN	KIAA1217	557					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCAAAGACAGAGAGACCAGG	0.552													6	44					0	0	0	0	C	24762980	G	C	24762980	3	2	489	1	0	0	0	0	1	0	0	0	8267	942	33	2	1692	2	KIAA1217	10	24762980	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5859478	24762980	110771767	351	94463											
ANKRD26	22852	broad.mit.edu	37	chr10	27324114	27324114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaaacccaaagtcttttCtctgagggcatctctcgtgt	8	15	7	11	1	4	1	0	1	4	0	7	1	4	1	1	1	1	1	1	1	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:27324114C>T	ENST00000376087.4	-	24	3430	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E646K|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1105K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1088						centrosome				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						AAAGTCTTTTCTCTGAGGGCA	0.348													53	209					0	0	0	0	T	27324114	C	T	27324114	3	4	489	1	0	0	0	0	1	0	0	0	654	922	32	2	1911	2	ANKRD26	10	27324114	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2561134	27324114	108210633	352	94464											
SVIL	6840	broad.mit.edu	37	chr10	29822109	29822109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggacattctgggtggctGatgctacccagctacactca	8	10	12	11	0	2	1	1	1	1	0	2	2	2	2	1	4	4	3	1	4	2	3	rs142485178		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:29822109G>A	ENST00000375398.2	-	10	1636	c.1187C>T	c.(1186-1188)tCa>tTa	p.S396L	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.S396L			O95425	SVIL_HUMAN	supervillin	396					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGGGTGGCTGATGCTACCCA	0.542													19	68					0	0	0	0	A	29822109	G	A	29822109	3	1	489	1	0	0	0	0	1	0	0	0	15511	1294	45	2	5581	2	SVIL	10	29822109	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2497995	29822109	105712638	353	94465											
ZEB1	6935	broad.mit.edu	37	chr10	31810616	31810616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggacagttgtgttacaGactcagaaccagttgtaaat	16	10	9	6	0	1	2	1	0	0	2	1	3	1	3	1	1	2	4	1	1	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:31810616G>A	ENST00000446923.2	+	7	2696	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N	ZEB1_ENST00000361642.5_Missense_Mutation_p.D786N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D718N|ZEB1_ENST00000320985.10_Missense_Mutation_p.D785N|ZEB1_ENST00000560721.2_Missense_Mutation_p.D765N|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	785					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.D785N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGTGTTACAGACTCAGAACC	0.443													37	100					0	0	0	0	A	31810616	G	A	31810616	3	1	489	1	0	0	0	0	1	0	0	0	17718	942	33	2	2393	2	ZEB1	10	31810616	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1988507	31810616	103724131	354	94466											
CREM	1390	broad.mit.edu	37	chr10	35484998	35484998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaactgtaatgcatgaacaGaactcaggagttgtctggcc	13	9	11	8	0	2	2	1	1	1	1	2	4	2	3	1	2	4	3	1	2	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:35484998G>C	ENST00000474931.1	+	1	169	c.8G>C	c.(7-9)aGa>aCa	p.R3T	CREM_ENST00000354759.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000344351.5_5'UTR|CREM_ENST00000342105.3_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000374721.3_Intron|CREM_ENST00000463960.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000488741.1_5'UTR|CREM_ENST00000488328.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000473940.1_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000490511.1_Missense_Mutation_p.R3T|CREM_ENST00000474362.1_Intron|CREM_ENST00000395887.3_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000468236.1_Missense_Mutation_p.R3T|CREM_ENST00000374734.3_Intron|CREM_ENST00000356917.5_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000333809.8_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator	0					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TGCATGAACAGAACTCAGGAG	0.443											OREG0020123	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	37					0	0	0	0	C	35484998	G	C	35484998	3	2	489	1	0	0	0	0	1	0	0	0	3898	942	33	2	799	2	CREM	10	35484998	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3674382	35484998	100049749	355	94467											
SLC25A16	8034	broad.mit.edu	37	chr10	70253224	70253224	+	Missense_Mutation	SNP	G	G	C																															acctttgcataaattgttttGaaagcatgaataattcctgt																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253224G>C	ENST00000265870.2	-	5	623	c.525C>G	c.(523-525)ttC>ttG	p.F175L	SLC25A16_ENST00000539557.1_Missense_Mutation_p.F77L|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	175					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AAATTGTTTTGAAAGCATGAA	0.348													16	66					0	0	0	0	C	70253224	G	C	70253224	3	2	489	1	0	0	0	0	1	0	0	0	14566	1281	45	2	493	2	SLC25A16	10	70253224	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	34768226	70253224	65281523	356	94468	1126	2									
SLC25A16	8034	broad.mit.edu	37	chr10	70253232	70253232	+	Missense_Mutation	SNP	G	G	A																															ataaattgttttgaaagcatGaataattcctgtatagctgt																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253232G>A	ENST00000265870.2	-	5	615	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	SLC25A16_ENST00000539557.1_Missense_Mutation_p.H75Y|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	173					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTGAAAGCATGAATAATTCCT	0.363													18	65					0	0	0	0	A	70253232	G	A	70253232	3	1	489	1	0	0	0	0	1	0	0	0	14566	1290	45	2	501	2	SLC25A16	10	70253232	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	8	70253232	65281515	357	94469	1126	2									
SLC25A16	8034	broad.mit.edu	37	chr10	70253311	70253311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtcaagagggtaagtacaGataactgctgtcatacctga	14	10	10	7	0	2	3	2	1	0	2	2	3	2	3	1	1	4	3	1	1	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253311G>C	ENST00000265870.2	-	5	536	c.438C>G	c.(436-438)atC>atG	p.I146M	SLC25A16_ENST00000539557.1_Missense_Mutation_p.I48M|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	146					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						GGTAAGTACAGATAACTGCTG	0.343													11	55					0	0	0	0	C	70253311	G	C	70253311	3	2	489	1	0	0	0	0	1	0	0	0	14566	932	33	2	580	2	SLC25A16	10	70253311	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	79	70253311	65281436	358	94470											
MRPS16	51021	broad.mit.edu	37	chr10	75011546	75011546	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttttccataggcttagaGaggtgggccccgcagccaat	9	9	12	11	1	0	1	0	0	0	1	1	2	1	1	4	3	2	3	4	3	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:75011546G>C	ENST00000372945.3	-	2	459	c.249C>G	c.(247-249)ctC>ctG	p.L83L	DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000416782.2_Silent_p.L83L|MRPS16_ENST00000372940.3_Silent_p.L83L|MRPS16_ENST00000479005.1_5'UTR	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	83					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					TAGGCTTAGAGAGGTGGGCCC	0.493													61	151					0	0	0	0	C	75011546	G	C	75011546	2	2	489	1	0	0	0	0	0	0	0	1	9896	929	33	2		2	MRPS16	10	75011546	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4758235	75011546	60523201	359	94471											
FUT11	170384	broad.mit.edu	37	chr10	75535419	75535419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggattacctacatgaaatCttcatgaagaggcaacatct	14	11	8	8	0	3	3	1	2	2	1	3	4	3	4	1	2	3	1	1	2	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:75535419C>T	ENST00000372841.3	+	3	1498	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	485					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TACATGAAATCTTCATGAAGA	0.453													20	69					0	0	0	0	T	75535419	C	T	75535419	2	4	489	1	0	0	0	0	0	0	0	1	6151	903	32	2		2	FUT11	10	75535419	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	523873	75535419	59999328	360	94472											
OPN4	94233	broad.mit.edu	37	chr10	88416979	88416979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcgtggagtcactgtgatGatgcagtaagttcacggatg	9	12	13	7	2	2	2	2	2	0	0	3	4	2	4	0	2	1	3	0	2	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:88416979G>A	ENST00000372071.2	+	3	545	c.318G>A	c.(316-318)atG>atA	p.M106I	OPN4_ENST00000241891.5_Intron	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	97					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						tcactgtgatgatgcagtaag	0.532													19	64					0	0	0	0	A	88416979	G	A	88416979	3	1	489	1	0	0	0	0	1	0	0	0	10953	1290	45	2	328	2	OPN4	10	88416979	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12881560	88416979	47117768	361	94473											
RNLS	55328	broad.mit.edu	37	chr10	90332795	90332795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	taggttgatctgtgtcacacGatgtctgaagtagacttctg	9	14	11	7	1	4	3	1	2	3	1	4	4	4	3	0	1	0	2	0	1	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:90332795G>C	ENST00000371947.3	-	4	1730	c.391C>G	c.(391-393)Cgt>Ggt	p.R131G	RNLS_ENST00000331772.4_Missense_Mutation_p.R131G|RNLS_ENST00000466945.1_Intron|RNLS_ENST00000437752.1_Missense_Mutation_p.R48G	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	131						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TGTGTCACACGATGTCTGAAG	0.413													35	130					0	0	0	0	C	90332795	G	C	90332795	3	2	489	1	0	0	0	0	1	0	0	0	13590	1058	37	3	729	3	RNLS	10	90332795	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1915816	90332795	45201952	362	94474											
SLC16A12	387700	broad.mit.edu	37	chr10	91198720	91198720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaagagtaattggcctcatCaaggcaccacatacacagag	15	8	8	10	0	2	2	2	0	0	2	2	2	2	2	2	2	1	2	2	2	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:91198720C>G	ENST00000341233.4	-	6	969	c.579G>C	c.(577-579)ttG>ttC	p.L193F	SLC16A12_ENST00000371790.4_Missense_Mutation_p.L223F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	193						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TTGGCCTCATCAAGGCACCAC	0.473													15	59					0	0	0	0	G	91198720	C	G	91198720	3	3	489	1	0	0	0	0	1	0	0	0	14493	825	29	2	893	2	SLC16A12	10	91198720	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	865925	91198720	44336027	363	94475											
IDE	3416	broad.mit.edu	37	chr10	94291595	94291595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcattcatcacattcttctCatgttctgaatcaactgcat	11	16	3	11	0	7	1	5	1	3	0	8	1	7	1	0	0	2	2	0	0	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:94291595C>T	ENST00000265986.6	-	4	627	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	191					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATTCTTCTCATGTTCTGAA	0.408													17	51					0	0	0	0	T	94291595	C	T	94291595	3	4	489	1	0	0	0	0	1	0	0	0	7546	835	29	2	2576	2	IDE	10	94291595	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3092875	94291595	41243152	364	94476											
PPRC1	23082	broad.mit.edu	37	chr10	103909730	103909730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgtaaagagcaaatttGattctcttgactttgacaca	13	13	6	9	0	1	4	0	3	1	1	2	4	1	4	1	0	1	2	1	0	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:103909730G>C	ENST00000278070.2	+	14	4978	c.4939G>C	c.(4939-4941)Gat>Cat	p.D1647H	PPRC1_ENST00000413464.2_Missense_Mutation_p.D1383H|PPRC1_ENST00000370012.1_Missense_Mutation_p.D614H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGCAAATTTGATTCTCTTGA	0.473													57	216					0	0	0	0	C	103909730	G	C	103909730	3	2	489	1	0	0	0	0	1	0	0	0	12486	1290	45	2	4993	2	PPRC1	10	103909730	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	9618135	103909730	31625017	365	94477											
SORCS1	114815	broad.mit.edu	37	chr10	108339186	108339186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaccactgagagcagcatCagcatggcagatccactgtg	13	6	10	12	0	1	2	1	1	0	2	2	3	2	2	2	1	4	4	2	1	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:108339186C>T	ENST00000263054.6	-	25	3319	c.3312G>A	c.(3310-3312)ctG>ctA	p.L1104L	SORCS1_ENST00000344440.6_Silent_p.L1104L|SORCS1_ENST00000369698.1_Silent_p.L639L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1104						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGAGCAGCATCAGCATGGCAG	0.557													14	40					0	0	0	0	T	108339186	C	T	108339186	2	4	489	1	0	0	0	0	0	0	0	1	15018	813	29	2		2	SORCS1	10	108339186	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4429456	108339186	27195561	366	94478											
TACC2	10579	broad.mit.edu	37	chr10	123846480	123846480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagatttcccatctggctCtgcaagatccagcttcagac	9	11	8	13	0	3	3	1	1	2	3	5	4	5	3	2	1	2	3	2	1	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:123846480C>T	ENST00000369005.1	+	4	4805	c.4465C>T	c.(4465-4467)Ctg>Ttg	p.L1489L	TACC2_ENST00000515603.1_Silent_p.L1489L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L1489L|TACC2_ENST00000453444.2_Silent_p.L1489L|TACC2_ENST00000334433.3_Silent_p.L1489L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1489						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCATCTGGCTCTGCAAGATCC	0.597													12	41					0	0	0	0	T	123846480	C	T	123846480	2	4	489	1	0	0	0	0	0	0	0	1	15593	912	32	2		2	TACC2	10	123846480	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	15507294	123846480	11688267	367	94479											
METTL10	399818	broad.mit.edu	37	chr10	126454034	126454034	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaaaagccttttactttCaacaccctggagagagattt	15	11	7	8	0	1	3	1	0	0	3	1	5	1	3	2	1	3	0	2	1	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:126454034C>T	ENST00000494792.1	-	5	436	c.437G>A	c.(436-438)tGa>tAa	p.*146*	METTL10_ENST00000368836.2_Silent_p.L181L																							CTTTTACTTTCAACACCCTGG	0.353													36	134					0	0	0	0	T	126454034	C	T	126454034	2	4	489	1	0	0	0	0	0	0	0	1	9563	825	29	2		2	METTL10	10	126454034	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2607554	126454034	9080713	368	94480											
PTPRE	5791	broad.mit.edu	37	chr10	129868020	129868020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatggccatgatgcacgcgGagcagaaggtggatgtgttt	9	10	16	6	2	0	3	0	2	0	1	0	5	0	5	1	4	2	3	1	4	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:129868020G>A	ENST00000254667.3	+	13	1351	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	PTPRE_ENST00000419012.2_Missense_Mutation_p.E358K|PTPRE_ENST00000306042.5_Missense_Mutation_p.E300K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	358	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GATGCACGCGGAGCAGAAGGT	0.547											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	106					0	0	0	0	A	129868020	G	A	129868020	3	1	489	1	0	0	0	0	1	0	0	0	12882	1175	41	2	1153	2	PTPRE	10	129868020	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3413986	129868020	5666727	369	94481											
MKI67	4288	broad.mit.edu	37	chr10	129902688	129902688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggagcttcttgaggttttGaatgactctggctgtggaga	7	15	14	5	0	2	4	0	3	2	1	2	6	2	5	0	4	1	3	0	4	1	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:129902688G>C	ENST00000368654.3	-	13	7791	c.7416C>G	c.(7414-7416)ttC>ttG	p.F2472L	MKI67_ENST00000368653.3_Missense_Mutation_p.F2112L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2472	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGAGGTTTTGAATGACTCTG	0.468													60	190					0	0	0	0	C	129902688	G	C	129902688	3	2	489	1	0	0	0	0	1	0	0	0	9667	1281	45	2	2366	2	MKI67	10	129902688	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	34668	129902688	5632059	370	94482											
ANO9	338440	broad.mit.edu	37	chr11	428114	428114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatgaaggcgatgtagatGagagacgagaaatgggtgaa	16	6	17	2	2	0	6	0	3	0	3	0	10	0	7	0	3	0	1	0	3	4	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:428114G>A	ENST00000332826.6	-	15	1392	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	436						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CGATGTAGATGAGAGACGAGA	0.577													17	51					0	0	0	0	A	428114	G	A	428114	2	1	489	1	0	0	0	0	0	0	0	1	703	1277	45	2		2	ANO9	11	428114	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		428114	134578402	371	94483											
MUC5B	727897	broad.mit.edu	37	chr11	1269734	1269734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccacgggcttcacagTcaccccctcctccagcccag	9	5	6	21	1	2	0	2	0	0	0	4	0	4	0	6	1	2	1	6	1	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:1269734T>C	ENST00000447027.1	+	31	11691	c.11633T>C	c.(11632-11634)gTc>gCc	p.V3878A	MUC5B_ENST00000529681.1_Missense_Mutation_p.V3875A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3875	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTTCACAGTCACCCCCTCC	0.647													5	82					0	0	0	0	C	1269734	T	C	1269734	3	2	489	1	0	0	0	0	1	0	0	0	10049	1667	58	5	11755	5	MUC5B	11	1269734	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	841620	1269734	133736782	372	94484											
TOLLIP	54472	broad.mit.edu	37	chr11	1309868	1309868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccgcgtaggacatgaCgaggttgatcatgccctcct	8	9	11	13	3	2	2	2	2	0	0	3	4	3	3	3	2	1	3	3	2	1	2	rs144024538		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:1309868C>T	ENST00000527886.1	-	4	678	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	TOLLIP_ENST00000317204.6_Missense_Mutation_p.V169I|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V108I|TOLLIP_ENST00000263646.7_Missense_Mutation_p.V141I|TOLLIP_ENST00000542915.1_Missense_Mutation_p.V119I|TOLLIP_ENST00000527938.1_Intron			Q9H0E2	TOLIP_HUMAN	toll interacting protein	169	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TAGGACATGACGAGGTTGATC	0.647													3	24					0	0	0	0	T	1309868	C	T	1309868	3	4	489	1	0	0	0	0	1	0	0	0	16444	536	19	1	331	1	TOLLIP	11	1309868	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	40134	1309868	133696648	373	94485											
OR52K1	390036	broad.mit.edu	37	chr11	4510412	4510412	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcagggatcaggagatCaacttctttgcctgtctggt	7	14	12	8	0	5	1	3	0	2	1	5	3	5	2	1	4	2	1	1	4	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:4510412C>A	ENST00000307632.3	+	1	304	c.282C>A	c.(280-282)atC>atA	p.I94I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGGAGATCAACTTCTTTG	0.498													17	58					2.39187e-15	2.54843e-15	1	0	A	4510412	C	A	4510412	2	1	489	1	0	0	0	0	0	0	0	1	11194	816	29	2		2	OR52K1	11	4510412	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3200544	4510412	130496104	374	94486											
SMPD1	6609	broad.mit.edu	37	chr11	6412670	6412670	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaagctgtgcaatctgctGaagatagcaccacctgccgt	11	9	9	12	1	2	2	1	1	1	1	2	2	2	2	3	0	5	4	3	0	4	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:6412670G>A	ENST00000342245.4	+	2	543	c.375G>A	c.(373-375)ctG>ctA	p.L125L	SMPD1_ENST00000527275.1_Silent_p.L124L|SMPD1_ENST00000299397.3_Silent_p.L125L|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Silent_p.L125L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	123	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GCAATCTGCTGAAGATAGCAC	0.577													10	23					0	0	0	0	A	6412670	G	A	6412670	2	1	489	1	0	0	0	0	0	0	0	1	14892	1277	45	2		2	SMPD1	11	6412670	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1902258	6412670	128593846	375	94487											
ST5	6764	broad.mit.edu	37	chr11	8752626	8752626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaaggagctggggggtGccggtccttgaggagcaccc	6	6	20	9	1	0	2	0	2	0	0	1	4	1	4	3	7	3	2	3	7	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:8752626G>T	ENST00000534127.1	-	6	596	c.211C>A	c.(211-213)Cac>Aac	p.H71N	ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.H71N|ST5_ENST00000313726.6_Missense_Mutation_p.H71N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	71	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCTGGGGGGTGCCGGTCCTTG	0.607													19	42					1.37657e-19	1.47202e-19	1	0	T	8752626	G	T	8752626	3	4	489	1	0	0	0	0	1	0	0	0	15310	1319	46	4	3274	4	ST5	11	8752626	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2339956	8752626	126253890	376	94488											
DENND5A	23258	broad.mit.edu	37	chr11	9225277	9225277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaacacattctccaccccGagcagttcaaaaacctcttt	13	10	4	14	1	3	1	1	1	2	0	4	2	3	1	4	0	3	2	4	0	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:9225277G>A	ENST00000328194.3	-	4	1199	c.879C>T	c.(877-879)ctC>ctT	p.L293L	DENND5A_ENST00000530044.1_Silent_p.L293L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	293	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCCACCCCGAGCAGTTCAA	0.463													26	89					0	0	0	0	A	9225277	G	A	9225277	2	1	489	1	0	0	0	0	0	0	0	1	4473	1045	37	1		1	DENND5A	11	9225277	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	472651	9225277	125781239	377	94489											
EIF4G2	1982	broad.mit.edu	37	chr11	10823243	10823243	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctttcttagaaaaccGaggtggcatatccttcgact	9	13	8	11	2	1	1	0	0	1	1	4	3	3	1	3	2	1	1	3	2	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:10823243G>T	ENST00000526148.1	-	14	1888	c.1378C>A	c.(1378-1380)Cgg>Agg	p.R460R	EIF4G2_ENST00000396525.2_Intron|EIF4G2_ENST00000339995.5_Silent_p.R460R|EIF4G2_ENST00000525681.1_Silent_p.R460R	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	460					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTAGAAAACCGAGGTGGCATA	0.423													36	112					4.00102e-26	4.29938e-26	1	0	T	10823243	G	T	10823243	2	4	489	1	0	0	0	0	0	0	0	1	5075	1057	37	3		3	EIF4G2	11	10823243	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1597966	10823243	124183273	378	94490											
EIF4G2	1982	broad.mit.edu	37	chr11	10825928	10825928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatagctgagcatacagtGagctatactttggctcttct	10	13	9	9	0	2	2	0	2	2	0	2	3	2	2	0	1	5	4	0	1	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:10825928G>A	ENST00000526148.1	-	6	899	c.389C>T	c.(388-390)tCa>tTa	p.S130L	EIF4G2_ENST00000396525.2_Missense_Mutation_p.S130L|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S130L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S130L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	130	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCATACAGTGAGCTATACTT	0.443													32	123					0	0	0	0	A	10825928	G	A	10825928	3	1	489	1	0	0	0	0	1	0	0	0	5075	1294	45	2	2402	2	EIF4G2	11	10825928	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2685	10825928	124180588	379	94491											
IGSF22	283284	broad.mit.edu	37	chr11	18735431	18735431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcagagtggccgtggctGagccgtggtcattcttgagc	5	10	17	9	2	2	3	1	2	1	1	2	3	2	3	2	4	3	2	2	4	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:18735431G>A	ENST00000513874.1	-	14	2202	c.2063C>T	c.(2062-2064)tCa>tTa	p.S688L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	688	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGCCGTGGCTGAGCCGTGGTC	0.637													7	19					0	0	0	0	A	18735431	G	A	18735431	3	1	489	1	0	0	0	0	1	0	0	0	7653	1294	45	2	1957	2	IGSF22	11	18735431	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	7909503	18735431	116271085	380	94492											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagaggaagtctgctgCggccaagttgaggatgtaga	12	7	17	5	1	1	3	0	1	1	2	1	7	1	6	1	4	2	3	1	4	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532													26	127					0	0	0	0	T	18956124	C	T	18956124	3	4	489	1	0	0	0	0	1	0	0	0	9836	768	27	1	764	1	MRGPRX1	11	18956124	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	220693	18956124	116050392	381	94493											
NAV2	89797	broad.mit.edu	37	chr11	20101658	20101658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcatccgcaggcagcactCctcagacagcgtctccagca	9	5	9	18	3	2	1	1	0	1	1	5	1	4	1	4	1	3	5	4	1	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:20101658C>T	ENST00000396085.1	+	25	5589	c.5228C>T	c.(5227-5229)tCc>tTc	p.S1743F	NAV2_ENST00000311043.8_Missense_Mutation_p.S807F|NAV2_ENST00000527559.2_Missense_Mutation_p.S1728F|NAV2_ENST00000540292.1_Missense_Mutation_p.S1730F|NAV2_ENST00000533917.1_Missense_Mutation_p.S807F|NAV2_ENST00000396087.3_Missense_Mutation_p.S1799F|NAV2_ENST00000360655.4_Missense_Mutation_p.S1679F|NAV2_ENST00000349880.4_Missense_Mutation_p.S1743F	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1799						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGCAGCACTCCTCAGACAGC	0.577													9	30					0	0	0	0	T	20101658	C	T	20101658	3	4	489	1	0	0	0	0	1	0	0	0	10254	855	30	2	5435	2	NAV2	11	20101658	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1145534	20101658	114904858	382	94494											
FIBIN	387758	broad.mit.edu	37	chr11	27016437	27016437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggcaagtacctgcggcggGagtcccaccagatcggggat	9	6	15	11	3	0	1	0	0	0	1	2	3	1	3	3	5	2	2	3	5	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:27016437G>A	ENST00000318627.2	+	1	810	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	122						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGCGGCGGGAGTCCCACCA	0.612													20	52					0	0	0	0	A	27016437	G	A	27016437	3	1	489	1	0	0	0	0	1	0	0	0	5930	1175	41	2	366	2	FIBIN	11	27016437	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6914779	27016437	107990079	383	94495											
FIBIN	387758	broad.mit.edu	37	chr11	27016448	27016448	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcggcgggagtcccaccaGatcggggatgcctactccaa	8	6	13	14	3	0	1	0	0	0	1	3	3	2	3	4	4	3	0	4	4	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:27016448G>A	ENST00000318627.2	+	1	821	c.375G>A	c.(373-375)caG>caA	p.Q125Q		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	125						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGTCCCACCAGATCGGGGATG	0.602													18	54					0	0	0	0	A	27016448	G	A	27016448	2	1	489	1	0	0	0	0	0	0	0	1	5930	933	33	2		2	FIBIN	11	27016448	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	11	27016448	107990068	384	94496											
PHF21A	51317	broad.mit.edu	37	chr11	45958121	45958121	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcttccttcttcagcatCtgaaaagatttttagaattt	10	18	5	8	0	4	3	1	1	3	2	5	3	5	3	1	0	1	2	1	0	4	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:45958121C>G	ENST00000257821.4	-	16	2232		c.e16-1		PHF21A_ENST00000418153.2_Splice_Site|PHF21A_ENST00000323180.6_Splice_Site	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A						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			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TCTTCAGCATCTGAAAAGATT	0.393													17	65					0	0	0	0	G	45958121	C	G	45958121	5	3	489	1	0	0	0	0	0	0	1	0	11905	927	32	2	449	2	PHF21A	11	45958121	Splice_Site	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	18941673	45958121	89048395	385	94497											
CELF1	10658	broad.mit.edu	37	chr11	47494778	47494778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaacaggttggctccctCtggaccttcaaaatacccag	11	9	9	12	0	2	1	1	1	1	0	3	3	3	2	3	3	2	2	3	3	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:47494778C>T	ENST00000395290.2	-	11	1201	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	CELF1_ENST00000361904.3_Missense_Mutation_p.E396K|CELF1_ENST00000358597.3_Missense_Mutation_p.E399K|CELF1_ENST00000395292.2_Missense_Mutation_p.E396K|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000532048.1_Missense_Mutation_p.E425K|CELF1_ENST00000531165.1_Missense_Mutation_p.E427K|CELF1_ENST00000310513.5_Missense_Mutation_p.E395K	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	399					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TTGGCTCCCTCTGGACCTTCA	0.488													16	49					0	0	0	0	T	47494778	C	T	47494778	3	4	489	1	0	0	0	0	1	0	0	0	3244	922	32	2	273	2	CELF1	11	47494778	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1536657	47494778	87511738	386	94498											
FNBP4	23360	broad.mit.edu	37	chr11	47752952	47752952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtttcagaggattctgttGaatttgaatcagtgccagtt	11	15	10	5	0	3	3	2	2	1	1	3	4	3	4	1	1	1	3	1	1	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:47752952G>A	ENST00000263773.5	-	12	1994	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	661										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GGATTCTGTTGAATTTGAATC	0.353													39	117					0	0	0	0	A	47752952	G	A	47752952	3	1	489	1	0	0	0	0	1	0	0	0	6012	1294	45	2	1095	2	FNBP4	11	47752952	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	258174	47752952	87253564	387	94499											
PTPRJ	5795	broad.mit.edu	37	chr11	48157658	48157658	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatgtggctggactggaaGagccctgacggtgcttccga	8	8	16	9	2	0	3	0	1	0	2	1	7	1	5	2	4	2	2	2	4	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:48157658G>C	ENST00000418331.2	+	9	2035	c.1683G>C	c.(1681-1683)aaG>aaC	p.K561N		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	561	Fibronectin type-III 6.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGACTGGAAGAGCCCTGACG	0.507													23	94					0	0	0	0	C	48157658	G	C	48157658	3	2	489	1	0	0	0	0	1	0	0	0	12886	933	33	2	1726	2	PTPRJ	11	48157658	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	404706	48157658	86848858	388	94500											
OR5D18	219438	broad.mit.edu	37	chr11	55587921	55587921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaactccaggcacacagtCaaagtggcctctgtgtttta	13	10	8	10	0	2	0	1	0	1	0	3	0	3	0	2	2	1	2	2	2	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:55587921C>T	ENST00000333976.4	+	1	836	c.816C>T	c.(814-816)gtC>gtT	p.V272V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				GGCACACAGTCAAAGTGGCCT	0.498													26	81					0	0	0	0	T	55587921	C	T	55587921	2	4	489	1	0	0	0	0	0	0	0	1	11228	813	29	2		2	OR5D18	11	55587921	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7430263	55587921	79418595	389	94501											
OR5D16	390144	broad.mit.edu	37	chr11	55606517	55606517	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatagaaccatttcattctCaggatgtttggtgcaattct	11	15	8	7	0	3	2	2	0	2	2	4	3	3	3	1	2	2	2	1	2	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:55606517C>G	ENST00000378396.1	+	1	290	c.290C>G	c.(289-291)tCa>tGa	p.S97*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATTTCATTCTCAGGATGTTTG	0.418													55	203					0	0	0	0	G	55606517	C	G	55606517	4	3	489	1	0	0	0	0	0	1	0	0	11227	838	29	2	292	2	OR5D16	11	55606517	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	18596	55606517	79399999	390	94502											
ZFP91	80829	broad.mit.edu	37	chr11	58384275	58384275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accggatgattcacactggcGagaagccattacagtgagta	13	8	11	9	2	1	3	1	2	0	1	1	5	1	4	2	2	2	1	2	2	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:58384275G>A	ENST00000316059.6	+	10	1360	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E397K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	397					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCACACTGGCGAGAAGCCATT	0.423													7	36					0	0	0	0	A	58384275	G	A	58384275	3	1	489	1	0	0	0	0	1	0	0	0	17750	1059	37	1	1227	1	ZFP91	11	58384275	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2777758	58384275	76622241	391	94503											
FAM111A	63901	broad.mit.edu	37	chr11	58919321	58919321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatacccaggctcaaagattCcattcacctaagaaaaatcc	17	8	4	12	0	2	2	2	0	0	2	4	2	4	2	4	1	1	1	4	1	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:58919321C>T	ENST00000528737.1	+	5	2998	c.180C>T	c.(178-180)ttC>ttT	p.F60F	FAM111A_ENST00000533703.1_Silent_p.F60F|FAM111A_ENST00000531147.1_Silent_p.F60F|FAM111A_ENST00000420244.1_Silent_p.F60F|FAM111A_ENST00000361723.3_Silent_p.F60F			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	60					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTCAAAGATTCCATTCACCTA	0.413													28	120					0	0	0	0	T	58919321	C	T	58919321	2	4	489	1	0	0	0	0	0	0	0	1	5440	854	30	2		2	FAM111A	11	58919321	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	535046	58919321	76087195	392	94504											
MS4A7	58475	broad.mit.edu	37	chr11	60150648	60150648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaaaccatgggggtttctCacagctttacaccaaagggc	11	8	9	13	0	1	0	1	0	1	0	2	0	1	0	3	3	3	2	3	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:60150648C>G	ENST00000358246.1	+	2	227	c.34C>G	c.(34-36)Cac>Gac	p.H12D	MS4A7_ENST00000534016.1_Missense_Mutation_p.H12D|MS4A7_ENST00000300184.3_Missense_Mutation_p.H12D|MS4A7_ENST00000530234.2_Missense_Mutation_p.H12D|MS4A14_ENST00000531787.1_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	12						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGGGGTTTCTCACAGCTTTAC	0.448													24	88					0	0	0	0	G	60150648	C	G	60150648	3	3	489	1	0	0	0	0	1	0	0	0	9936	826	29	2	36	2	MS4A7	11	60150648	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1231327	60150648	74855868	393	94505											
VWCE	220001	broad.mit.edu	37	chr11	61058327	61058327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcccacggggcacactCgggccacctcctgacagcct	9	4	11	17	2	0	2	0	1	0	1	2	2	1	2	5	3	2	1	5	3	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:61058327C>A	ENST00000335613.5	-	4	754	c.368G>T	c.(367-369)cGa>cTa	p.R123L		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	123						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGCACACTCGGGCCACCTC	0.622													11	31					0.38729	0.389061	1	0	A	61058327	C	A	61058327	3	1	489	1	0	0	0	0	1	0	0	0	17341	884	31	3	2567	3	VWCE	11	61058327	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	907679	61058327	73948189	394	94506											
FEN1	2237	broad.mit.edu	37	chr11	61563263	61563263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaatgatgagtgcaaacatCtgctgagcctcatgggcatc	12	9	10	10	0	2	3	1	3	1	0	3	3	2	3	1	1	4	3	1	1	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:61563263C>G	ENST00000305885.2	+	2	843	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	144	I-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GTGCAAACATCTGCTGAGCCT	0.572								Editing and processing nucleases					15	62					0	0	0	0	G	61563263	C	G	61563263	3	3	489	1	0	0	0	0	1	0	0	0	5857	912	32	2	432	2	FEN1	11	61563263	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	504936	61563263	73443253	395	94507											
AHNAK	79026	broad.mit.edu	37	chr11	62287462	62287462	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttgggtcccgagacatcGatgtcggccttgggcaggct	6	9	14	12	3	0	1	0	0	0	1	3	3	1	1	3	4	0	2	3	4	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62287462G>A	ENST00000378024.4	-	5	14701	c.14427C>T	c.(14425-14427)atC>atT	p.I4809I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4809					nervous system development	nucleus	protein binding			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)				CCGAGACATCGATGTCGGCCT	0.512													120	288					0	0	0	0	A	62287462	G	A	62287462	2	1	489	1	0	0	0	0	0	0	0	1	414	1048	37	1		1	AHNAK	11	62287462	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	724199	62287462	72719054	396	94508											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62489736	62489736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctacaacacaatttttgcaGaggacatggggtagaagggc	13	9	12	7	0	1	2	0	0	1	2	1	3	1	3	0	4	3	2	0	4	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62489736G>A	ENST00000301785.5	-	7	1404	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	RP11-831H9.16_ENST00000403734.2_Silent_p.L404L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	404	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AATTTTTGCAGAGGACATGGG	0.488													25	104					0	0	0	0	A	62489736	G	A	62489736	2	1	489	1	0	0	0	0	0	0	0	1	7325	929	33	2		2	HNRNPUL2	11	62489736	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	202274	62489736	72516780	397	94509											
TMEM223	79064	broad.mit.edu	37	chr11	62559355	62559355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcggccccgatcatgctCaaagagcagcacatcccgtt	11	6	10	14	3	2	1	2	0	0	1	3	3	3	1	3	1	4	4	3	1	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62559355C>G	ENST00000307366.7	-	1	138	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	TMEM223_ENST00000525631.1_Missense_Mutation_p.E38Q	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	38						integral to membrane											CGATCATGCTCAAAGAGCAGC	0.692													5	10					0	0	0	0	G	62559355	C	G	62559355	3	3	489	1	0	0	0	0	1	0	0	0	16240	835	29	2	504	2	TMEM223	11	62559355	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	69619	62559355	72447161	398	94510											
TMEM223	79064	broad.mit.edu	37	chr11	62559383	62559383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacatcccgttgcagcgtCgtgccttgcaggggccggca	6	7	14	14	4	0	0	0	0	0	0	2	0	1	0	3	3	5	5	3	3	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62559383C>T	ENST00000307366.7	-	1	110	c.84G>A	c.(82-84)acG>acA	p.T28T	TMEM223_ENST00000525631.1_Silent_p.T28T	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	28			T -> A (in dbSNP:rs2584918).			integral to membrane											GTTGCAGCGTCGTGCCTTGCA	0.692													4	9					0	0	0	0	T	62559383	C	T	62559383	2	4	489	1	0	0	0	0	0	0	0	1	16240	871	31	1		1	TMEM223	11	62559383	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	28	62559383	72447133	399	94511											
BATF2	116071	broad.mit.edu	37	chr11	64756793	64756793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctctggtgggatgctcCagctcgaggggctgtggagg	4	10	17	10	1	1	0	0	0	1	0	4	3	3	2	2	6	2	3	2	6	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:64756793C>T	ENST00000301887.4	-	3	763	c.633G>A	c.(631-633)ctG>ctA	p.L211L	BATF2_ENST00000435842.2_Silent_p.L126L|BATF2_ENST00000527716.1_Silent_p.L187L	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	211						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						TGGGATGCTCCAGCTCGAGGG	0.647													17	41					0	0	0	0	T	64756793	C	T	64756793	2	4	489	1	0	0	0	0	0	0	0	1	1330	581	21	4		4	BATF2	11	64756793	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2197410	64756793	70249723	400	94512											
CAPN1	823	broad.mit.edu	37	chr11	64954685	64954685	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgtgcctctttctgcaGatctccagcgttctagacat	7	14	9	11	1	4	2	0	0	4	2	5	2	4	2	2	0	3	2	2	0	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:64954685G>A	ENST00000527323.1	+	6	999		c.e6-1		CAPN1_ENST00000533129.1_Splice_Site|CAPN1_ENST00000533820.1_Splice_Site|CAPN1_ENST00000279247.6_Splice_Site|CAPN1_ENST00000524773.1_Splice_Site			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TCTTTCTGCAGATCTCCAGCG	0.582													6	16					0	0	0	0	A	64954685	G	A	64954685	5	1	489	1	0	0	0	0	0	0	1	0	2647	956	33	2	781	2	CAPN1	11	64954685	Splice_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	197892	64954685	70051831	401	94513											
EHBP1L1	254102	broad.mit.edu	37	chr11	65350672	65350672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtagctggggcccaggaGacagaggtcgggggttcagg	8	5	21	7	1	1	2	1	0	0	2	2	4	1	2	1	8	1	3	1	8	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:65350672G>A	ENST00000309295.4	+	9	2794	c.2529G>A	c.(2527-2529)gaG>gaA	p.E843E		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	843	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCCCAGGAGACAGAGGTCG	0.567													15	31					0	0	0	0	A	65350672	G	A	65350672	2	1	489	1	0	0	0	0	0	0	0	1	5012	933	33	2		2	EHBP1L1	11	65350672	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	395987	65350672	69655844	402	94514											
EHBP1L1	254102	broad.mit.edu	37	chr11	65351862	65351862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgcaccgattctacccaGacaagatgtgagctgccaga	11	8	9	13	1	1	4	0	1	1	3	2	5	2	4	4	0	4	2	4	0	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:65351862G>A	ENST00000309295.4	+	10	3509	c.3244G>A	c.(3244-3246)Gac>Aac	p.D1082N		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1082	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCTACCCAGACAAGATGTG	0.602													19	35					0	0	0	0	A	65351862	G	A	65351862	3	1	489	1	0	0	0	0	1	0	0	0	5012	942	33	2	3282	2	EHBP1L1	11	65351862	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1190	65351862	69654654	403	94515											
ACTN3	89	broad.mit.edu	37	chr11	66326809	66326809	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagagcgacctggcggCgcaccaggaccgcgtggagc	7	5	16	13	5	0	1	0	1	0	1	0	5	0	3	3	4	2	1	3	4	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:66326809C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							GACCTGGCGGCGCACCAGGAC	0.721													4	24					0	0	0	0	T	66326809	C	T	66326809	1	4	489	0	1	0	0	0	0	0	0	0	206	768	27	1		1	ACTN3	11	66326809	RNA	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	974947	66326809	68679707	404	94516											
LRFN4	78999	broad.mit.edu	37	chr11	66626559	66626559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgaagatgagaccctcatCtaccggtgaggatgcgtgcc	10	7	13	11	3	2	3	1	2	1	2	2	6	2	4	3	2	4	0	3	2	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:66626559C>G	ENST00000309602.4	+	1	1587	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	448	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						AGACCCTCATCTACCGGTGAG	0.657													28	67					0	0	0	0	G	66626559	C	G	66626559	3	3	489	1	0	0	0	0	1	0	0	0	9004	903	32	2	1346	2	LRFN4	11	66626559	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	299750	66626559	68379957	405	94517											
TBX10	347853	broad.mit.edu	37	chr11	67402487	67402487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgccttggtgacgatCatctcagtgcccagctggtt	5	12	11	13	1	2	1	2	1	1	0	3	2	2	1	3	2	4	2	3	2	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:67402487C>A	ENST00000335385.3	-	2	342	c.255G>T	c.(253-255)atG>atT	p.M85I		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	85					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGGTGACGATCATCTCAGTGC	0.647													10	25					7.48243e-07	7.71955e-07	1	0	A	67402487	C	A	67402487	3	1	489	1	0	0	0	0	1	0	0	0	15745	826	29	2	930	2	TBX10	11	67402487	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	775928	67402487	67604029	406	94518											
TBX10	347853	broad.mit.edu	37	chr11	67402551	67402551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccagctgaactgtcactCtggacacacgtgggttcttg	7	12	10	12	1	4	1	1	1	3	0	5	2	4	2	1	2	2	2	1	2	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:67402551C>G	ENST00000335385.3	-	2	278	c.191G>C	c.(190-192)aGa>aCa	p.R64T		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	64					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						AACTGTCACTCTGGACACACG	0.622													15	41					0	0	0	0	G	67402551	C	G	67402551	3	3	489	1	0	0	0	0	1	0	0	0	15745	913	32	2	994	2	TBX10	11	67402551	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	64	67402551	67603965	407	94519											
NUMA1	4926	broad.mit.edu	37	chr11	71724588	71724588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcccagctcctccgcacGctcagcctgtgaggtcagct	5	9	11	16	2	2	1	2	1	0	0	4	1	4	1	4	2	3	4	4	2	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:71724588G>A	ENST00000393695.3	-	15	4292	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1321C	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1321					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCTCCGCACGCTCAGCCTGT	0.627			T	RARA	APL								13	33					0	0	0	0	A	71724588	G	A	71724588	3	1	489	1	0	0	0	0	1	0	0	0	10821	1087	38	1	2438	1	NUMA1	11	71724588	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4322037	71724588	63281928	408	94520											
INPPL1	3636	broad.mit.edu	37	chr11	71941167	71941167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccacctggcctacaggtGaagctagatgtgaccctggg	8	8	12	13	0	0	3	0	2	0	1	1	3	1	3	5	3	2	1	5	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:71941167G>A	ENST00000541756.1	+	9	1146	c.216G>A	c.(214-216)gtG>gtA	p.V72V	INPPL1_ENST00000538751.1_Silent_p.V72V|INPPL1_ENST00000298229.2_Silent_p.V314V			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	314	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			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						GCCTACAGGTGAAGCTAGATG	0.617													6	37					0	0	0	0	A	71941167	G	A	71941167	2	1	489	1	0	0	0	0	0	0	0	1	7814	1277	45	2		2	INPPL1	11	71941167	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	216579	71941167	63065349	409	94521											
FAT3	120114	broad.mit.edu	37	chr11	92532330	92532330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagaacaagagttatatGagctggtggtagaagccagc	14	8	14	5	0	0	5	0	2	0	3	0	5	0	5	1	2	4	3	1	2	7	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:92532330G>C	ENST00000298047.6	+	9	6168	c.6151G>C	c.(6151-6153)Gag>Cag	p.E2051Q	FAT3_ENST00000409404.2_Missense_Mutation_p.E2051Q|FAT3_ENST00000525166.1_Missense_Mutation_p.E1901Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2051	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGTTATATGAGCTGGTGGT	0.468										TCGA Ovarian(4;0.039)			10	32					0	0	0	0	C	92532330	G	C	92532330	3	2	489	1	0	0	0	0	1	0	0	0	5736	1291	45	2	6185	2	FAT3	11	92532330	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	20591163	92532330	42474186	410	94522											
MED17	9440	broad.mit.edu	37	chr11	93529598	93529598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagttatctatttctttGtgccattcctcaaatgataa	10	18	5	8	0	3	1	1	1	2	0	4	1	4	1	2	0	2	2	2	0	4	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:93529598G>A	ENST00000251871.3	+	7	1322	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	345					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTATTTCTTTGTGCCATTCCT	0.343													22	76					0	0	0	0	A	93529598	G	A	93529598	2	1	489	1	0	0	0	0	0	0	0	1	9504	1368	48	4		4	MED17	11	93529598	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	997268	93529598	41476918	411	94523											
MMP13	4322	broad.mit.edu	37	chr11	102826070	102826070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accccgcatcttggctttttCatgacatctaaggtgttatc	8	15	7	11	1	3	1	1	1	2	0	4	1	3	1	2	2	0	3	2	2	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:102826070C>G	ENST00000260302.3	-	2	301	c.273G>C	c.(271-273)atG>atC	p.M91I	MMP13_ENST00000340273.4_Missense_Mutation_p.M91I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	91			M -> T (in MANDP1).		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTGGCTTTTTCATGACATCTA	0.433													49	113					0	0	0	0	G	102826070	C	G	102826070	3	3	489	1	0	0	0	0	1	0	0	0	9721	826	29	2	1178	2	MMP13	11	102826070	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	9296472	102826070	32180446	412	94524											
UBE4A	9354	broad.mit.edu	37	chr11	118250276	118250276	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttcgtgagcagtttgaaCgactgatgaccatctatctt	10	14	8	9	2	3	4	0	4	3	0	4	5	3	4	1	0	2	2	1	0	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:118250276C>T	ENST00000252108.3	+	11	1818	c.1687C>T	c.(1687-1689)Cga>Tga	p.R563*	UBE4A_ENST00000545354.1_Nonsense_Mutation_p.R35*|UBE4A_ENST00000431736.2_Nonsense_Mutation_p.R570*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	563					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCAGTTTGAACGACTGATGAC	0.483													25	71					0	0	0	0	T	118250276	C	T	118250276	4	4	489	1	0	0	0	0	0	1	0	0	16978	528	19	1	1746	1	UBE4A	11	118250276	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	15424206	118250276	16756240	413	94525											
NLRX1	79671	broad.mit.edu	37	chr11	119050489	119050489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggagatgtttcgagaggagGactactacaacgatgatgtt	12	11	13	5	2	0	3	0	1	0	2	1	8	0	5	0	3	3	2	0	3	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:119050489G>A	ENST00000409109.1	+	7	2346	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	NLRX1_ENST00000292199.2_Missense_Mutation_p.D587N|NLRX1_ENST00000525863.1_Missense_Mutation_p.D587N|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.D587N|NLRX1_ENST00000409265.4_Missense_Mutation_p.D587N			Q86UT6	NLRX1_HUMAN	NLR family member X1	587	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCGAGAGGAGGACTACTACAA	0.597													32	76					0	0	0	0	A	119050489	G	A	119050489	3	1	489	1	0	0	0	0	1	0	0	0	10555	1174	41	2	1781	2	NLRX1	11	119050489	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	800213	119050489	15956027	414	94526											
POU2F3	25833	broad.mit.edu	37	chr11	120170351	120170351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggacatggcttccctccatCcgctccagcagcttgtgctg	6	10	10	15	1	0	0	0	0	0	0	4	1	4	1	4	2	3	5	4	2	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:120170351C>G	ENST00000260264.4	+	5	317	c.283C>G	c.(283-285)Ccg>Gcg	p.P95A	POU2F3_ENST00000543440.2_Missense_Mutation_p.P93A	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	93					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCCCTCCATCCGCTCCAGCA	0.577											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	33					0	0	0	0	G	120170351	C	G	120170351	3	3	489	1	0	0	0	0	1	0	0	0	12344	855	30	2	295	2	POU2F3	11	120170351	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1119862	120170351	14836165	415	94527											
ZNF202	7753	broad.mit.edu	37	chr11	123601509	123601509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaagacagactctggccGacaggtgaaatcatcttcca	12	9	9	11	1	3	3	1	1	2	2	4	4	4	3	2	2	0	1	2	2	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:123601509G>A	ENST00000336139.4	-	3	450	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	ZNF202_ENST00000529691.1_Missense_Mutation_p.R30W|ZNF202_ENST00000530393.1_Missense_Mutation_p.R30W			O95125	ZN202_HUMAN	zinc finger protein 202	30					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GACTCTGGCCGACAGGTGAAA	0.542													23	60					0	0	0	0	A	123601509	G	A	123601509	3	1	489	1	0	0	0	0	1	0	0	0	17858	1057	37	1	1882	1	ZNF202	11	123601509	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3431158	123601509	11405007	416	94528											
VWF	7450	broad.mit.edu	37	chr12	6125817	6125817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgacacctgagtgagacGaggccctaaacggaacgaga	14	4	12	11	3	0	4	0	3	0	2	0	8	0	5	2	2	2	0	2	2	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6125817G>A	ENST00000261405.5	-	30	5430	c.5176C>T	c.(5176-5178)Cgt>Tgt	p.R1726C		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1726	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.R1726S(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAGTGAGACGAGGCCCTAAA	0.527													16	73					0	0	0	0	A	6125817	G	A	6125817	3	1	489	1	0	0	0	0	1	0	0	0	17342	1058	37	1	3357	1	VWF	12	6125817	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		6125817	127726078	417	94529											
NCAPD2	9918	broad.mit.edu	37	chr12	6637460	6637460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccatccgctttcccaatCtggtggacccctggactcct	5	11	9	16	1	1	0	0	0	1	0	4	2	4	2	6	4	0	1	6	4	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6637460C>G	ENST00000315579.5	+	25	4064	c.3265C>G	c.(3265-3267)Ctg>Gtg	p.L1089V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.L1044V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1089					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			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						CTTTCCCAATCTGGTGGACCC	0.562													70	168					0	0	0	0	G	6637460	C	G	6637460	3	3	489	1	0	0	0	0	1	0	0	0	10275	912	32	2	3359	2	NCAPD2	12	6637460	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	511643	6637460	127214435	418	94530											
GNB3	2784	broad.mit.edu	37	chr12	6954844	6954844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaggagctgatctgcttctCccacgagagcatcatctgcg	8	9	10	14	2	4	2	1	1	3	1	5	4	4	3	2	1	4	3	2	1	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6954844C>T	ENST00000229264.3	+	10	1199	c.794C>T	c.(793-795)tCc>tTc	p.S265F	CDCA3_ENST00000604599.1_5'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.S264F|CDCA3_ENST00000422785.3_3'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	265					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ATCTGCTTCTCCCACGAGAGC	0.597													37	161					0	0	0	0	T	6954844	C	T	6954844	3	4	489	1	0	0	0	0	1	0	0	0	6570	855	30	2	824	2	GNB3	12	6954844	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	317384	6954844	126897051	419	94531											
SPSB2	84727	broad.mit.edu	37	chr12	6981332	6981332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcccctctgctcttgtcaGaagagtttccatcccaaacc	9	11	5	16	0	3	2	1	0	2	2	6	2	6	2	5	0	2	2	5	0	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6981332G>A	ENST00000519357.1	-	2	920	c.734C>T	c.(733-735)tCt>tTt	p.S245F	SPSB2_ENST00000524270.1_Intron|SPSB2_ENST00000523102.1_Intron			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	96	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCTCTTGTCAGAAGAGTTTCC	0.552											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	57					0	0	0	0	A	6981332	G	A	6981332	3	1	489	1	0	0	0	0	1	0	0	0	15203	957	33	2		2	SPSB2	12	6981332	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	26488	6981332	126870563	420	94532											
LRRC23	10233	broad.mit.edu	37	chr12	7014813	7014813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagatgtcagatgaagatGatctagaagactctgagcca	16	8	11	6	0	3	8	1	3	2	5	3	9	3	8	1	0	1	0	1	0	4	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7014813G>A	ENST00000007969.8	+	2	236	c.16G>A	c.(16-18)Gat>Aat	p.D6N	LRRC23_ENST00000323702.5_Missense_Mutation_p.D6N|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000436789.1_Missense_Mutation_p.D6N|LRRC23_ENST00000433346.1_Missense_Mutation_p.D6N|LRRC23_ENST00000429740.1_Missense_Mutation_p.D6N|LRRC23_ENST00000443597.2_Missense_Mutation_p.D6N	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	6										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGATGAAGATGATCTAGAAGA	0.488													19	83					0	0	0	0	A	7014813	G	A	7014813	3	1	489	1	0	0	0	0	1	0	0	0	9042	1290	45	2	18	2	LRRC23	12	7014813	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	33481	7014813	126837082	421	94533											
LRRC23	10233	broad.mit.edu	37	chr12	7014885	7014885	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggagacagaggaggggGaggactacagaaaagagggg	17	1	20	3	0	0	5	0	0	0	5	0	9	0	8	0	7	1	0	0	7	4	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7014885G>T	ENST00000007969.8	+	2	308	c.88G>T	c.(88-90)Gag>Tag	p.E30*	LRRC23_ENST00000323702.5_Nonsense_Mutation_p.E30*|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000436789.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000433346.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000429740.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000443597.2_Nonsense_Mutation_p.E30*	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	30										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						agaggagggggaggactacag	0.542													19	55					1.33834e-09	1.39549e-09	1	0	T	7014885	G	T	7014885	4	4	489	1	0	0	0	0	0	1	0	0	9042	1175	41	2	90	2	LRRC23	12	7014885	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	72	7014885	126837010	422	94534											
CD163L1	283316	broad.mit.edu	37	chr12	7519883	7519883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgaggcaggtctccatctCatggaataaattctcctcga	10	12	8	11	1	3	1	1	1	3	0	7	3	3	2	2	3	0	1	2	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7519883C>T	ENST00000313599.3	-	18	4285	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K	CD163L1_ENST00000416109.2_Missense_Mutation_p.E1420K|CD163L1_ENST00000396630.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1410						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E1410K(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCTCCATCTCATGGAATAAA	0.488													30	111					0	0	0	0	T	7519883	C	T	7519883	3	4	489	1	0	0	0	0	1	0	0	0	2997	835	29	2	141	2	CD163L1	12	7519883	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	504998	7519883	126332012	423	94535											
CD163L1	283316	broad.mit.edu	37	chr12	7548992	7548992	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctgccgcccaccagcctCaggccccatgttgcatcacc	6	8	8	19	1	2	0	2	0	0	0	2	0	2	0	7	1	4	3	7	1	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7548992C>G	ENST00000313599.3	-	8	1806	c.1749G>C	c.(1747-1749)ctG>ctC	p.L583L	CD163L1_ENST00000416109.2_Silent_p.L593L|CD163L1_ENST00000396630.1_Silent_p.L583L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	583	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACCAGCCTCAGGCCCCATG	0.517													4	17					0	0	0	0	G	7548992	C	G	7548992	2	3	489	1	0	0	0	0	0	0	0	1	2997	813	29	2		2	CD163L1	12	7548992	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	29109	7548992	126302903	424	94536											
FAM90A1	55138	broad.mit.edu	37	chr12	8375060	8375060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctgggggctgacggcctgGagcaggccgtgggttttgga	4	8	20	9	2	0	1	0	1	0	0	0	3	0	3	3	7	1	3	3	7	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:8375060G>A	ENST00000538603.1	-	7	1311	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662													4	101					0	0	0	0	A	8375060	G	A	8375060	2	1	489	1	0	0	0	0	0	0	0	1	5695	1161	41	2		2	FAM90A1	12	8375060	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	826068	8375060	125476835	425	94537											
TAS2R10	50839	broad.mit.edu	37	chr12	10978133	10978133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtaaaacatgatatttCtatggccatgcctataaaat	16	12	5	8	0	1	1	0	1	1	0	1	1	1	1	2	1	2	1	2	1	7	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978133C>T	ENST00000240619.2	-	1	824	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	246					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGATATTTCTATGGCCATG	0.378													37	111					0	0	0	0	T	10978133	C	T	10978133	3	4	489	1	0	0	0	0	1	0	0	0	15657	922	32	2	191	2	TAS2R10	12	10978133	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2603073	10978133	122873762	426	94538			4	158		3	3	149	N	G_C_-	5.693274e-06
TAS2R10	50839	broad.mit.edu	37	chr12	10978173	10978173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaagataaagaggatgatGaaagatatcaaaactttcat	20	10	7	4	0	2	5	2	2	0	3	2	6	2	6	0	1	2	0	0	1	8	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978173G>A	ENST00000240619.2	-	1	784	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	232					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGAGGATGATGAAAGATATCA	0.393													32	117					0	0	0	0	A	10978173	G	A	10978173	2	1	489	1	0	0	0	0	0	0	0	1	15657	1281	45	2		2	TAS2R10	12	10978173	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	40	10978173	122873722	427	94539			4	158		3	3	149	N	G_C_-	5.693274e-06
TAS2R10	50839	broad.mit.edu	37	chr12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A																															gtctccaaagggaaatgattINSaaaaaaatacatgtaattag																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)tatfs	p.Y196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347													39	106	---	---	---	---					A	10978282	-	A	10978281	7	5	489	1	0	1	1	0	0	0	0	0	15657	1751	61	0	339	0	TAS2R10	12	10978281	Frame_Shift_Ins	INS	-	TCGA-TN-A7HL-01A-11D-A34J-08	108	10978281	122873614	428	94540			4	158		3	3	149	N	G_C_-	5.693274e-06
KIAA1467	57613	broad.mit.edu	37	chr12	13221288	13221288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccagattccaactgcaGcaaccttctgattacaacca	13	8	6	14	0	1	2	0	1	1	1	2	2	2	2	4	1	6	3	4	1	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:13221288G>T	ENST00000197268.8	+	8	1313	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	398						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCAACTGCAGCAACCTTCTG	0.493													30	89					2.47511e-08	2.56257e-08	1	0	T	13221288	G	T	13221288	3	4	489	1	0	0	0	0	1	0	0	0	8286	971	34	4	1223	4	KIAA1467	12	13221288	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2243007	13221288	120630607	429	94541											
HIST4H4	121504	broad.mit.edu	37	chr12	14923862	14923862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggactccccgggtctcctCgtagatgagaccagaaatgc	10	7	12	12	2	1	3	0	1	1	3	4	6	2	4	4	2	1	1	4	2	2	1	rs148045723		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:14923862C>T	ENST00000539745.1	-	1	203	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	53					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGGGTCTCCTCGTAGATGAGA	0.607											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	42					0	0	0	0	T	14923862	C	T	14923862	3	4	489	1	0	0	0	0	1	0	0	0	7235	893	31	1	158	1	HIST4H4	12	14923862	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1702574	14923862	118928033	430	94542											
C12orf60	144608	broad.mit.edu	37	chr12	14976313	14976313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttgatgaaattccccatCatgaatcttcaattaagtga	14	13	5	9	0	3	4	2	4	1	0	4	4	4	4	2	0	0	0	2	0	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:14976313C>T	ENST00000330828.2	+	2	648	c.444C>T	c.(442-444)atC>atT	p.I148I	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	148										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AATTCCCCATCATGAATCTTC	0.423													27	72					0	0	0	0	T	14976313	C	T	14976313	2	4	489	1	0	0	0	0	0	0	0	1	1715	816	29	2		2	C12orf60	12	14976313	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	52451	14976313	118875582	431	94543											
LMO3	55885	broad.mit.edu	37	chr12	16757906	16757906	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtagaagggggtctccttGatttcgcttaagtgtggacc	9	12	13	7	1	1	2	0	1	1	1	3	3	1	3	2	3	0	2	2	3	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:16757906G>C	ENST00000320122.6	-	0	407				LMO3_ENST00000541846.1_Intron|LMO3_ENST00000537304.1_Intron|LMO3_ENST00000534946.1_Intron|LMO3_ENST00000441439.2_Intron|LMO3_ENST00000261169.6_De_novo_Start_OutOfFrame|LMO3_ENST00000447609.1_Intron|LMO3_ENST00000541295.1_Intron|LMO3_ENST00000535535.1_Intron|LMO3_ENST00000540848.1_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000354662.1_Intron	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)						regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				GGGTCTCCTTGATTTCGCTTA	0.557													19	38					0	0	0	0	C	16757906	G	C	16757906	1	2	489	1	0	0	0	0	0	0	0	0	8908	1305	45	2		2	LMO3	12	16757906	Translation_Start_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1781593	16757906	117093989	432	94544											
CAPRIN2	65981	broad.mit.edu	37	chr12	30878975	30878975	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctcaatactggatccttCggaagggtagaggaagaacc	12	9	11	9	1	1	2	1	0	0	2	4	5	3	5	3	4	2	1	3	4	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:30878975C>T	ENST00000251071.5	-	9	2580	c.1830G>A	c.(1828-1830)ccG>ccA	p.P610P	CAPRIN2_ENST00000395805.2_Silent_p.P610P|CAPRIN2_ENST00000417045.1_Silent_p.P610P|CAPRIN2_ENST00000308433.5_Silent_p.P277P|CAPRIN2_ENST00000298892.5_Silent_p.P610P	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	610					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTGGATCCTTCGGAAGGGTAG	0.393													17	77					0	0	0	0	T	30878975	C	T	30878975	2	4	489	1	0	0	0	0	0	0	0	1	2661	871	31	1		1	CAPRIN2	12	30878975	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	14121069	30878975	102972920	433	94545											
PDZRN4	29951	broad.mit.edu	37	chr12	41967558	41967558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcattgaactgagtcacAaaaagatgatgaaaaagaga	21	8	8	4	0	2	6	2	4	0	2	2	7	2	6	0	0	1	0	0	0	6	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:41967558A>G	ENST00000298919.7	+	10	2585	c.2197A>G	c.(2197-2199)Aaa>Gaa	p.K733E	PDZRN4_ENST00000539469.2_Missense_Mutation_p.K735E|PDZRN4_ENST00000402685.2_Missense_Mutation_p.K993E			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	993							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACTGAGTCACAAAAAGATGAT	0.463													6	32					0	0	0	0	G	41967558	A	G	41967558	3	3	489	1	0	0	0	0	1	0	0	0	11781	131	5	5	3088	5	PDZRN4	12	41967558	Missense_Mutation	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	11088583	41967558	91884337	434	94546											
KRT85	3891	broad.mit.edu	37	chr12	52754767	52754767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccagaagtgatctggCgccctggggtggtgctgtag	6	8	19	8	1	1	2	0	1	1	1	1	2	1	2	2	6	1	2	2	6	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:52754767C>T	ENST00000257901.3	-	9	1469	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	KRT85_ENST00000544265.1_Missense_Mutation_p.R253H	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	465	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity	p.R465H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGTGATCTGGCGCCCTGGGGT	0.662													10	30					0	0	0	0	T	52754767	C	T	52754767	3	4	489	1	0	0	0	0	1	0	0	0	8551	768	27	1	133	1	KRT85	12	52754767	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	10787209	52754767	81097128	435	94547											
KRT5	3852	broad.mit.edu	37	chr12	52912867	52912867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacggctccaggttctgcctCacagtcttggtgccctgctc	5	11	10	15	1	3	0	1	0	2	0	5	0	4	0	3	3	4	3	3	3	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:52912867C>T	ENST00000252242.4	-	2	1023	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	211	Linker 1.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTTCTGCCTCACAGTCTTGG	0.607													37	101					0	0	0	0	T	52912867	C	T	52912867	2	4	489	1	0	0	0	0	0	0	0	1	8531	813	29	2		2	KRT5	12	52912867	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	158100	52912867	80939028	436	94548											
HOXC6	3223	broad.mit.edu	37	chr12	54422624	54422624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgctcaggattttagttctGagcagggcaggactgcgccc	7	10	13	11	2	2	1	1	1	1	0	3	3	2	3	1	3	2	4	1	3	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:54422624G>A	ENST00000394331.3	+	2	1783	c.73G>A	c.(73-75)Gag>Aag	p.E25K	HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.E107K|HOXC5_ENST00000512206.1_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	107					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTAGTTCTGAGCAGGGCAG	0.478													35	118					0	0	0	0	A	54422624	G	A	54422624	3	1	489	1	0	0	0	0	1	0	0	0	7365	1291	45	2	321	2	HOXC6	12	54422624	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1509757	54422624	79429271	437	94549											
LRP1	4035	broad.mit.edu	37	chr12	57592321	57592321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgggtccagccgcagcGtcatcgtggacaccaagatc	9	7	13	12	3	1	1	1	0	0	1	4	3	2	3	3	3	2	1	3	3	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:57592321G>A	ENST00000243077.3	+	60	10010	c.9544G>A	c.(9544-9546)Gtc>Atc	p.V3182I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3182					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCCGCAGCGTCATCGTGGA	0.597													9	17					0	0	0	0	A	57592321	G	A	57592321	3	1	489	1	0	0	0	0	1	0	0	0	9015	1145	40	1	9782	1	LRP1	12	57592321	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3169697	57592321	76259574	438	94550											
DTX3	196403	broad.mit.edu	37	chr12	58002900	58002900	+	Missense_Mutation	SNP	G	G	A																															cctacctgacccgggtgcaaGaggagctgagagcgaagggt																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002900G>A	ENST00000548198.1	+	5	2513	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	DTX3_ENST00000337737.3_Missense_Mutation_p.E337K|DTX3_ENST00000548804.1_Missense_Mutation_p.E337K|DTX3_ENST00000551632.1_Missense_Mutation_p.E340K			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	337					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCGGGTGCAAGAGGAGCTGAG	0.547													5	50					0	0	0	0	A	58002900	G	A	58002900	3	1	489	1	0	0	0	0	1	0	0	0	4831	943	33	2	1023	2	DTX3	12	58002900	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	410579	58002900	75848995	439	94551	1127	3									
DTX3	196403	broad.mit.edu	37	chr12	58002908	58002908	+	Silent	SNP	G	G	A																															acccgggtgcaagaggagctGagagcgaagggtatcacaga																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002908G>A	ENST00000548198.1	+	5	2521	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	DTX3_ENST00000337737.3_Silent_p.L339L|DTX3_ENST00000548804.1_Silent_p.L339L|DTX3_ENST00000551632.1_Silent_p.L342L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	339					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AAGAGGAGCTGAGAGCGAAGG	0.547													8	51					0	0	0	0	A	58002908	G	A	58002908	2	1	489	1	0	0	0	0	0	0	0	1	4831	1277	45	2		2	DTX3	12	58002908	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	8	58002908	75848987	440	94552	1127	3									
DTX3	196403	broad.mit.edu	37	chr12	58002910	58002910	+	Missense_Mutation	SNP	G	G	A																															ccgggtgcaagaggagctgaGagcgaagggtatcacagatg																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002910G>A	ENST00000548198.1	+	5	2523	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	DTX3_ENST00000337737.3_Missense_Mutation_p.R340K|DTX3_ENST00000548804.1_Missense_Mutation_p.R340K|DTX3_ENST00000551632.1_Missense_Mutation_p.R343K			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	340					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GAGGAGCTGAGAGCGAAGGGT	0.557													8	50					0	0	0	0	A	58002910	G	A	58002910	3	1	489	1	0	0	0	0	1	0	0	0	4831	942	33	2	1033	2	DTX3	12	58002910	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2	58002910	75848985	441	94553	1127	3									
PPM1H	57460	broad.mit.edu	37	chr12	63226041	63226041	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcttcattgtgtgtgctCttcccggcattgataaccct	5	16	9	11	1	3	1	1	1	2	0	4	1	4	1	2	2	2	2	2	2	1	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:63226041C>G	ENST00000228705.6	-	2	564	c.264G>C	c.(262-264)aaG>aaC	p.K88N		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	88							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TGTGTGTGCTCTTCCCGGCAT	0.542													7	14					0	0	0	0	G	63226041	C	G	63226041	3	3	489	1	0	0	0	0	1	0	0	0	12417	912	32	2	1316	2	PPM1H	12	63226041	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5223131	63226041	70625854	442	94554											
XPOT	11260	broad.mit.edu	37	chr12	64813912	64813912	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcattccaaatctggtGgaatcatggtaccaaatatt	13	12	8	8	0	2	0	1	0	1	0	3	1	3	1	2	3	2	2	2	3	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:64813912G>A	ENST00000332707.5	+	7	1081	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	184	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAAATCTGGTGGAATCATGGT	0.383													22	66					0	0	0	0	A	64813912	G	A	64813912	2	1	489	1	0	0	0	0	0	0	0	1	17546	1335	47	4		4	XPOT	12	64813912	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1587871	64813912	69037983	443	94555											
HMGA2	8091	broad.mit.edu	37	chr12	66308868	66308868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaagaaccagctccaaGaagaaaacatctctgggaaa	18	5	7	11	0	1	3	0	0	1	3	3	4	2	4	3	1	4	1	3	1	8	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:66308868G>T	ENST00000354636.3	+	4	1090	c.279G>T	c.(277-279)aaG>aaT	p.K93N	HMGA2_ENST00000403681.2_Intron|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000541363.1_Intron|HMGA2_ENST00000536545.1_3'UTR|HMGA2_ENST00000393577.3_Intron	NM_003484.1	NP_003475.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	93					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		CCAGCTCCAAGAAGAAAACAT	0.423			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"								33	148					6.70999e-13	7.12328e-13	1	0	T	66308868	G	T	66308868	3	4	489	1	0	0	0	0	1	0	0	0	7274	933	33	2	293	2	HMGA2	12	66308868	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1494956	66308868	67543027	444	94556											
GRIP1	23426	broad.mit.edu	37	chr12	66856789	66856789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtggtgttggccaggaaCtgggttgcttctgcaagtgt	6	13	15	7	0	2	0	1	0	1	0	2	1	2	1	1	4	3	4	1	4	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:66856789C>A	ENST00000359742.4	-	9	1197	c.957G>T	c.(955-957)caG>caT	p.Q319H	GRIP1_ENST00000398016.3_Missense_Mutation_p.Q319H|GRIP1_ENST00000286445.7_Missense_Mutation_p.Q319H			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	319	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGCCAGGAACTGGGTTGCTT	0.552													6	25					1	1	1	0	A	66856789	C	A	66856789	3	1	489	1	0	0	0	0	1	0	0	0	6837	564	20	4	2337	4	GRIP1	12	66856789	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	547921	66856789	66995106	445	94557											
TRHDE	29953	broad.mit.edu	37	chr12	73046848	73046848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggatcaagatgcaattGatgtcataatccatgtagct	12	13	9	7	0	2	2	2	1	0	1	3	3	3	3	1	1	3	4	1	1	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:73046848G>A	ENST00000261180.4	+	17	2857	c.2761G>A	c.(2761-2763)Gat>Aat	p.D921N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	921					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGATGCAATTGATGTCATAAT	0.353													25	63					0	0	0	0	A	73046848	G	A	73046848	3	1	489	1	0	0	0	0	1	0	0	0	16574	1290	45	2	2827	2	TRHDE	12	73046848	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6190059	73046848	60805047	446	94558											
SYT1	6857	broad.mit.edu	37	chr12	79679678	79679678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagaaaaacaagaagaaggGaaaggaaaaaggagggaaga	26	0	14	1	0	0	4	0	0	0	4	0	8	0	8	0	4	1	0	0	4	10	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:79679678G>T	ENST00000261205.4	+	5	935	c.278G>T	c.(277-279)gGa>gTa	p.G93V	SYT1_ENST00000552744.1_Missense_Mutation_p.G93V|SYT1_ENST00000457153.2_Missense_Mutation_p.G93V|SYT1_ENST00000393240.3_Missense_Mutation_p.G93V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	93					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAAGAAGGGAAAGGAAAAA	0.363													13	65					5.50884e-06	5.63054e-06	1	0	T	79679678	G	T	79679678	3	4	489	1	0	0	0	0	1	0	0	0	15556	1174	41	2	284	2	SYT1	12	79679678	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6632830	79679678	54172217	447	94559											
LRRIQ1	84125	broad.mit.edu	37	chr12	85441137	85441137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataaagagaaacaaactctCaaagctcagagggatagaga	20	5	10	6	0	2	3	2	0	1	3	3	7	2	4	0	1	3	1	0	1	6	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85441137C>T	ENST00000393217.2	+	6	628	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	189	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AACAAACTCTCAAAGCTCAGA	0.333													32	116					0	0	0	0	T	85441137	C	T	85441137	2	4	489	1	0	0	0	0	0	0	0	1	9093	813	29	2		2	LRRIQ1	12	85441137	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5761459	85441137	48410758	448	94560											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450000	85450000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagccaaacaattctggcaGattttaaaatggaagaaaaa	20	8	7	6	0	1	2	0	0	1	2	1	3	1	3	1	2	2	1	1	2	8	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85450000G>A	ENST00000393217.2	+	8	1490	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	477										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTCTGGCAGATTTTAAAAT	0.269													21	62					0	0	0	0	A	85450000	G	A	85450000	3	1	489	1	0	0	0	0	1	0	0	0	9093	942	33	2	1455	2	LRRIQ1	12	85450000	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	8863	85450000	48401895	449	94561											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450762	85450762	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatgacctgctgtgtatcaGagtcaacccttctatattct	9	14	7	11	0	4	2	2	1	2	1	4	2	4	2	2	0	2	3	2	0	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85450762G>C	ENST00000393217.2	+	8	2252	c.2191G>C	c.(2191-2193)Gag>Cag	p.E731Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	731										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGTGTATCAGAGTCAACCCT	0.333													114	460					0	0	0	0	C	85450762	G	C	85450762	3	2	489	1	0	0	0	0	1	0	0	0	9093	943	33	2	2217	2	LRRIQ1	12	85450762	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	762	85450762	48401133	450	94562											
LRRIQ1	84125	broad.mit.edu	37	chr12	85515476	85515476	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttttgttgttttcaataggGattctctacttaaagtgttg	8	21	8	4	0	2	0	1	0	1	0	3	1	2	1	0	1	1	3	0	1	5	10	rs147514803		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85515476G>A	ENST00000393217.2	+	16	3440	c.3377_splice	c.e16-1	p.D1127_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1127	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTCAATAGGGATTCTCTACT	0.333													24	76					0	0	0	0	A	85515476	G	A	85515476	5	1	489	1	0	0	0	0	0	0	1	0	9093	1188	41	2	3437	2	LRRIQ1	12	85515476	Splice_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	64714	85515476	48336419	451	94563											
ATP2B1	490	broad.mit.edu	37	chr12	90010788	90010788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtctgaatacttttgcctCaccattagcactcaagattt	10	15	6	10	0	3	2	2	1	1	1	3	2	3	2	2	1	3	1	2	1	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:90010788C>T	ENST00000428670.3	-	12	2314	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E620K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E363K|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E620K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E620K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	620					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACTTTTGCCTCACCATTAGCA	0.358													21	87					0	0	0	0	T	90010788	C	T	90010788	3	4	489	1	0	0	0	0	1	0	0	0	1143	835	29	2	2002	2	ATP2B1	12	90010788	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4495312	90010788	43841107	452	94564											
ATP2B1	490	broad.mit.edu	37	chr12	90018085	90018085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatataaattggtgtgcactCagcaagccatggtcttttct	10	15	8	8	0	3	0	1	0	2	0	3	0	3	0	1	2	3	2	1	2	5	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:90018085C>G	ENST00000428670.3	-	9	1675	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E407Q|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E150Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E407Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E407Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	407					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGTGTGCACTCAGCAAGCCAT	0.393													18	60					0	0	0	0	G	90018085	C	G	90018085	3	3	489	1	0	0	0	0	1	0	0	0	1143	835	29	2	2653	2	ATP2B1	12	90018085	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7297	90018085	43833810	453	94565											
ELK3	2004	broad.mit.edu	37	chr12	96653599	96653599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgctccgctgagtcctGccaggctgcaagggccaagc	7	7	13	14	1	0	1	0	1	0	0	2	1	2	1	4	2	4	5	4	2	2	1	rs143649233		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:96653599G>A	ENST00000228741.3	+	4	1419	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	ELK3_ENST00000549529.1_3'UTR|ELK3_ENST00000552142.1_Missense_Mutation_p.A100T	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	365					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GCTGAGTCCTGCCAGGCTGCA	0.498													13	79					0	0	0	0	A	96653599	G	A	96653599	3	1	489	1	0	0	0	0	1	0	0	0	5098	1319	46	4	1103	4	ELK3	12	96653599	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6635514	96653599	37198296	454	94566											
NEDD1	121441	broad.mit.edu	37	chr12	97330420	97330420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttagtggctgacactcctCtaactgcggtagatttcatg	8	14	9	10	1	2	2	1	1	1	1	3	2	3	2	1	2	2	2	1	2	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:97330420C>G	ENST00000266742.4	+	8	1090	c.751C>G	c.(751-753)Cta>Gta	p.L251V	NEDD1_ENST00000457368.2_Missense_Mutation_p.L162V|NEDD1_ENST00000411739.2_Missense_Mutation_p.L162V|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000429527.2_Missense_Mutation_p.L251V|NEDD1_ENST00000557644.1_Missense_Mutation_p.L258V	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	251					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TGACACTCCTCTAACTGCGGT	0.378													13	60					0	0	0	0	G	97330420	C	G	97330420	3	3	489	1	0	0	0	0	1	0	0	0	10379	912	32	2	798	2	NEDD1	12	97330420	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	676821	97330420	36521475	455	94567											
MYBPC1	4604	broad.mit.edu	37	chr12	102069095	102069095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggtccaccccaaattgtGaagattgaggatgtctgggg	10	9	13	9	0	1	3	0	2	1	1	2	4	2	4	4	4	0	0	4	4	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:102069095G>A	ENST00000549145.1	+	26	2953	c.2853G>A	c.(2851-2853)gtG>gtA	p.V951V	MYBPC1_ENST00000551300.1_Silent_p.V821V|MYBPC1_ENST00000553190.1_Silent_p.V920V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.V938V|MYBPC1_ENST00000547509.1_Silent_p.V906V|MYBPC1_ENST00000547405.1_Silent_p.V894V|MYBPC1_ENST00000545503.2_Silent_p.V920V|MYBPC1_ENST00000541119.1_Silent_p.V908V|MYBPC1_ENST00000536007.1_Silent_p.V901V|MYBPC1_ENST00000452455.2_Silent_p.V938V|MYBPC1_ENST00000441232.1_Silent_p.V938V|MYBPC1_ENST00000392934.3_Silent_p.V907V|MYBPC1_ENST00000361685.2_Silent_p.V945V|MYBPC1_ENST00000361466.2_Silent_p.V945V|MYBPC1_ENST00000360610.2_Silent_p.V938V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	938	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCAAATTGTGAAGATTGAGG	0.453													4	27					0	0	0	0	A	102069095	G	A	102069095	2	1	489	1	0	0	0	0	0	0	0	1	10081	1277	45	2		2	MYBPC1	12	102069095	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4738675	102069095	31782800	456	94568											
SART3	9733	broad.mit.edu	37	chr12	108924012	108924012	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttttaacgctttctTctcagcccgagctcttttcc	4	19	4	14	2	4	0	1	0	4	0	6	1	5	0	2	0	3	2	2	0	1	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:108924012T>G	ENST00000228284.3	-	15	2056	c.1822A>C	c.(1822-1824)Aag>Cag	p.K608Q	SART3_ENST00000431469.2_Missense_Mutation_p.K572Q	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	608	Required for nuclear localization.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACGCTTTCTTCTCAGCCCGA	0.478									Porokeratosis				31	125					0	0	0	0	G	108924012	T	G	108924012	3	3	489	1	0	0	0	0	1	0	0	0	13933	1792	62	5	1089	5	SART3	12	108924012	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	6854917	108924012	24927883	457	94569											
GIT2	9815	broad.mit.edu	37	chr12	110390897	110390899	+	Splice_Site	DEL	CTT	CTT	-																															tgggacgcatggcctctcacCttctgccggtttgttttgct																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:110390897_110390899delCTT	ENST00000360185.4	-	13	1404_1406	c.1242_splice	c.e13+1	p.K414_splice	GIT2_ENST00000356259.4_Splice_Site_p.K414_splice|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000551209.1_Splice_Site_p.K413_splice|GIT2_ENST00000547815.1_Splice_Site_p.K414_splice|GIT2_ENST00000553118.1_Splice_Site_p.K414_splice|GIT2_ENST00000355312.3_Splice_Site_p.K414_splice|GIT2_ENST00000338373.5_Splice_Site_p.K414_splice|GIT2_ENST00000457474.2_Splice_Site_p.K416_splice|GIT2_ENST00000354574.4_Splice_Site_p.K416_splice|GIT2_ENST00000320063.9_Splice_Site_p.K414_splice|GIT2_ENST00000361006.5_Splice_Site_p.K414_splice			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	464					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GGCCTCTCACCTTCTGCCGGTTT	0.542													20	38	---	---	---	---					-	110390899	CTT	-	110390897	8	5	489	1	0	1	0	1	0	0	1	0	6448	695	24	0	1097	0	GIT2	12	110390897	Splice_Site	DEL	CTT	TCGA-TN-A7HL-01A-11D-A34J-08	1466885	110390897	23460998	458	94570											
NAA25	80018	broad.mit.edu	37	chr12	112509855	112509855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcagaataatgtacttCtccttctaaagagctgagga	12	13	8	8	0	3	3	0	1	3	2	4	4	3	4	1	1	3	3	1	1	5	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:112509855C>T	ENST00000261745.4	-	10	1128	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	294						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TAATGTACTTCTCCTTCTAAA	0.383													14	69					0	0	0	0	T	112509855	C	T	112509855	3	4	489	1	0	0	0	0	1	0	0	0	10191	922	32	2	2098	2	NAA25	12	112509855	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2118958	112509855	21342040	459	94571											
NOS1	4842	broad.mit.edu	37	chr12	117768313	117768313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctggttgctttcttcgCggggtcctggcctgggggcc	1	12	16	12	2	2	0	0	0	2	0	4	1	3	0	3	6	1	2	3	6	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:117768313C>T	ENST00000317775.6	-	2	1247	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	NOS1_ENST00000344089.3_Missense_Mutation_p.A188T|NOS1_ENST00000338101.4_Missense_Mutation_p.A188T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	188	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.A188T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTTTCTTCGCGGGGTCCTGG	0.632													15	117					0	0	0	0	T	117768313	C	T	117768313	3	4	489	1	0	0	0	0	1	0	0	0	10611	768	27	1	3854	1	NOS1	12	117768313	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5258458	117768313	16083582	460	94572											
PEBP1	5037	broad.mit.edu	37	chr12	118577301	118577301	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaagggcaatgacatCagcagtggcacagtcctctc	13	7	10	11	0	2	2	1	2	1	0	4	2	3	2	1	2	2	3	1	2	3	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:118577301C>A	ENST00000261313.2	+	3	643	c.291C>A	c.(289-291)atC>atA	p.I97I	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	97							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAATGACATCAGCAGTGGCA	0.537													23	73					2.21704e-12	2.33946e-12	1	0	A	118577301	C	A	118577301	2	1	489	1	0	0	0	0	0	0	0	1	11784	816	29	2		2	PEBP1	12	118577301	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	808988	118577301	15274594	461	94573											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124242530	124242530	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaaatttgttcctttctCattcagtctactttcatcaa	10	17	2	12	0	5	0	4	0	2	0	7	0	6	0	2	0	1	1	2	0	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:124242530C>G	ENST00000330342.3	+	20	2770	c.2522C>G	c.(2521-2523)tCa>tGa	p.S841*	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Nonsense_Mutation_p.S123*	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	841					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GTTCCTTTCTCATTCAGTCTA	0.348													13	62					0	0	0	0	G	124242530	C	G	124242530	4	3	489	1	0	0	0	0	0	1	0	0	1173	838	29	2	2600	2	ATP6V0A2	12	124242530	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5665229	124242530	9609365	462	94574											
TMEM132D	121256	broad.mit.edu	37	chr12	129558525	129558525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcctcgctactcatcacGatggagttcctggtggggta	7	12	11	11	2	3	0	3	0	0	0	6	2	5	1	2	4	1	3	2	4	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:129558525G>A	ENST00000422113.2	-	9	3521	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_ENST00000389441.4_Silent_p.I603I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1065						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTCATCACGATGGAGTTCC	0.517													34	130					0	0	0	0	A	129558525	G	A	129558525	2	1	489	1	0	0	0	0	0	0	0	1	16141	1048	37	1		1	TMEM132D	12	129558525	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5315995	129558525	4293370	463	94575											
ANKLE2	23141	broad.mit.edu	37	chr12	133310989	133310989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagacgtggtggctttatCtcggcaggaggcttcccgtt	6	11	13	11	3	1	1	0	0	1	1	3	2	2	2	2	5	0	4	2	5	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:133310989C>G	ENST00000539605.1	-	9	8371	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000357997.5_Missense_Mutation_p.D625H|ANKLE2_ENST00000337516.5_Missense_Mutation_p.D625H			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	625						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTGGCTTTATCTCGGCAGGAG	0.562													17	63					0	0	0	0	G	133310989	C	G	133310989	3	3	489	1	0	0	0	0	1	0	0	0	633	913	32	2	959	2	ANKLE2	12	133310989	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3752464	133310989	540906	464	94576											
LNX2	222484	broad.mit.edu	37	chr13	28155802	28155802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagagaagaggaggaggtCtgttccacagacaccatctc	12	9	11	9	0	2	3	0	0	2	3	4	6	3	5	2	3	0	1	2	3	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:28155802C>G	ENST00000316334.3	-	2	168	c.39G>C	c.(37-39)caG>caC	p.Q13H		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	13							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGAGGAGGTCTGTTCCACAG	0.423													32	97					0	0	0	0	G	28155802	C	G	28155802	3	3	489	1	0	0	0	0	1	0	0	0	8921	912	32	2	2069	2	LNX2	13	28155802	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		28155802	87014076	465	94577											
FLT3	2322	broad.mit.edu	37	chr13	28601325	28601325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttctcttttacttcttaGatagttgagaagatcaccat	10	19	5	7	0	3	3	1	1	2	3	4	4	3	3	1	0	1	1	1	0	4	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:28601325G>A	ENST00000380982.4	-	17	2188	c.2107C>T	c.(2107-2109)Cta>Tta	p.L703L	FLT3_ENST00000537084.1_Silent_p.L703L|FLT3_ENST00000241453.7_Silent_p.L703L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	703	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	TTACTTCTTAGATAGTTGAGA	0.338			"Mis, O"		"AML, ALL"								37	56					0	0	0	0	A	28601325	G	A	28601325	2	1	489	1	0	0	0	0	0	0	0	1	5987	933	33	2		2	FLT3	13	28601325	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	445523	28601325	86568553	466	94578											
PCDH17	27253	broad.mit.edu	37	chr13	58209159	58209159	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacaacctgactgtccctCaggggcacgcgggctgccac	8	5	11	17	2	1	1	1	1	0	0	2	1	2	1	4	3	3	2	4	3	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:58209159C>T	ENST00000377918.3	+	1	2505	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	827					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACTGTCCCTCAGGGGCACGC	0.597													9	21					0	0	0	0	T	58209159	C	T	58209159	4	4	489	1	0	0	0	0	0	1	0	0	11583	827	29	2	2481	2	PCDH17	13	58209159	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	29607834	58209159	56960719	467	94579											
SLC10A2	6555	broad.mit.edu	37	chr13	103710723	103710723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgtggagcatgtggtCatgctgacgctgaaaggcaa	11	8	15	7	1	1	2	1	2	0	0	1	3	1	3	0	3	3	5	0	3	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:103710723C>A	ENST00000245312.3	-	2	983	c.387G>T	c.(385-387)atG>atT	p.M129I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	129					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCATGTGGTCATGCTGACGC	0.433													10	25					1.76689e-08	1.83149e-08	1	0	A	103710723	C	A	103710723	3	1	489	1	0	0	0	0	1	0	0	0	14462	826	29	2	679	2	SLC10A2	13	103710723	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	45501564	103710723	11459155	468	94580											
ARHGEF7	8874	broad.mit.edu	37	chr13	111870185	111870185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacactcaacggccggaccGgctggttccccagcaactac	9	5	10	17	3	1	0	1	0	0	0	2	1	2	1	4	4	4	4	4	4	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:111870185G>A	ENST00000375741.2	+	6	941	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.G138S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.G53S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.G53S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.G53S|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.G128S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.G181S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.G53S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.G210S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	231	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGGCCGGACCGGCTGGTTCCC	0.582													14	39					0	0	0	0	A	111870185	G	A	111870185	3	1	489	1	0	0	0	0	1	0	0	0	913	1116	39	1	713	1	ARHGEF7	13	111870185	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	8159462	111870185	3299693	469	94581											
OR4K1	79544	broad.mit.edu	37	chr14	20404156	20404156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacagttttgttgggagtGagatgatgttgcttgtagct	7	17	13	4	0	1	2	1	2	0	1	1	4	1	3	0	1	2	6	0	1	1	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20404156G>A	ENST00000285600.4	+	1	390	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTTGGGAGTGAGATGATGTT	0.423													34	367					0	0	0	0	A	20404156	G	A	20404156	3	1	489	1	0	0	0	0	1	0	0	0	11138	1291	45	2	333	2	OR4K1	14	20404156	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		20404156	86945384	470	94582											
OR4K1	79544	broad.mit.edu	37	chr14	20404616	20404616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatatatggccttttagcaGacttcctgtggacaaatttc	10	15	7	9	0	0	1	0	0	0	1	2	2	1	2	2	2	1	1	2	2	5	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20404616G>C	ENST00000285600.4	+	1	850	c.791G>C	c.(790-792)aGa>aCa	p.R264T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCTTTTAGCAGACTTCCTGTG	0.418													15	325					0	0	0	0	C	20404616	G	C	20404616	3	2	489	1	0	0	0	0	1	0	0	0	11138	942	33	2	793	2	OR4K1	14	20404616	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	460	20404616	86944924	471	94583											
OR4L1	122742	broad.mit.edu	37	chr14	20528443	20528443	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactgccacaacacccaaGatgatcatagatttgctcac	13	9	5	14	0	2	3	2	1	0	2	3	3	3	3	3	0	3	1	3	0	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20528443G>A	ENST00000315683.1	+	1	240	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAACACCCAAGATGATCATAG	0.478													73	71					0	0	0	0	A	20528443	G	A	20528443	2	1	489	1	0	0	0	0	0	0	0	1	11145	933	33	2		2	OR4L1	14	20528443	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	123827	20528443	86821097	472	94584											
MYH7	4625	broad.mit.edu	37	chr14	23900999	23900999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtccttcttgctgcGgtccccaatggctgcaataa	6	12	10	13	1	2	0	0	0	2	0	4	0	4	0	3	3	3	4	3	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:23900999G>A	ENST00000355349.3	-	7	772	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	204	Myosin head-like.		R -> H (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			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)		TTCTTGCTGCGGTCCCCAATG	0.572													14	104					0	0	0	0	A	23900999	G	A	23900999	3	1	489	1	0	0	0	0	1	0	0	0	10109	1116	39	1	5333	1	MYH7	14	23900999	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3372556	23900999	83448541	473	94585											
MYH7	4625	broad.mit.edu	37	chr14	23901905	23901905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagatgtggggcggggcctCgctcctcttcttgccccggt	3	10	15	13	3	2	1	0	0	2	1	4	2	3	1	4	5	1	1	4	5	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:23901905C>T	ENST00000355349.3	-	5	607	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	149	Myosin head-like.				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			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)		GGCGGGGCCTCGCTCCTCTTC	0.597													38	145					0	0	0	0	T	23901905	C	T	23901905	3	4	489	1	0	0	0	0	1	0	0	0	10109	893	31	1	5506	1	MYH7	14	23901905	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	906	23901905	83447635	474	94586											
SDR39U1	56948	broad.mit.edu	37	chr14	24911433	24911433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggccaggttgacggcggcatCgcagctcggcagccccgatg	6	5	16	14	5	0	1	0	1	0	0	2	2	0	1	3	5	2	5	3	5	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:24911433C>G	ENST00000399395.3	-	3	190	c.157G>C	c.(157-159)Gat>Cat	p.D53H	SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000555365.1_Intron|SDR39U1_ENST00000554698.1_5'UTR|SDR39U1_ENST00000538105.2_Silent_p.A11A	NM_020195.2	NP_064580.2	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U, member 1	79							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						ACGGCGGCATCGCAGCTCGGC	0.662													3	7					0	0	0	0	G	24911433	C	G	24911433	3	3	489	1	0	0	0	0	1	0	0	0	14059	884	31	3	740	3	SDR39U1	14	24911433	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1009528	24911433	82438107	475	94587											
PRPF39	55015	broad.mit.edu	37	chr14	45584108	45584108	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacaatattatcctccccctCcaacctgatgggaaaaatgt	13	10	6	12	0	0	1	0	1	0	0	3	3	3	2	5	1	1	0	5	1	6	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:45584108C>G	ENST00000355765.6	+	14	2172	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	668	Poly-Pro.				mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TCCTCCCCCTCCAACCTGATG	0.323													14	44					0	0	0	0	G	45584108	C	G	45584108	3	3	489	1	0	0	0	0	1	0	0	0	12649	855	30	2	2052	2	PRPF39	14	45584108	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	20672675	45584108	61765432	476	94588											
ATL1	51062	broad.mit.edu	37	chr14	51094928	51094928	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactttacatccaatatatCaagcacaatgatagcaaaaa	20	9	4	8	0	1	1	1	1	0	0	2	2	2	1	1	0	4	2	1	0	10	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:51094928C>G	ENST00000441560.2	+	13	1780	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	ATL1_ENST00000354525.4_Missense_Mutation_p.I433M|ATL1_ENST00000358385.6_Missense_Mutation_p.I433M|ATL1_ENST00000357032.3_Missense_Mutation_p.I433M	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	433					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCCAATATATCAAGCACAATG	0.438													33	76					0	0	0	0	G	51094928	C	G	51094928	3	3	489	1	0	0	0	0	1	0	0	0	1110	816	29	2	1345	2	ATL1	14	51094928	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5510820	51094928	56254612	477	94589											
LGALS3	3958	broad.mit.edu	37	chr14	55604802	55604802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctggaaacccaaaccctCaaggatggcctggcgcatgg	10	6	13	12	1	2	0	1	0	1	0	2	2	2	2	3	6	2	1	3	6	3	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:55604802C>T	ENST00000254301.9	+	3	319	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	LGALS3_ENST00000554715.1_Nonsense_Mutation_p.Q20*|LGALS3_ENST00000553755.1_3'UTR	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	20					cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3						CCCAAACCCTCAAGGATGGCC	0.582													12	35					0	0	0	0	T	55604802	C	T	55604802	4	4	489	1	0	0	0	0	0	1	0	0	8796	827	29	2	64	2	LGALS3	14	55604802	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4509874	55604802	51744738	478	94590											
ADAM21	8747	broad.mit.edu	37	chr14	70925333	70925333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacttttagagtgccagcaGagaaattcaccaattgcagt	14	11	8	8	0	1	2	1	0	0	2	1	3	1	2	2	0	4	2	2	0	4	5	rs144766277		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:70925333G>C	ENST00000603540.1	+	2	1375	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	ADAM21_ENST00000267499.3_Missense_Mutation_p.E373Q|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	373	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGTGCCAGCAGAGAAATTCAC	0.418													30	67					0	0	0	0	C	70925333	G	C	70925333	3	2	489	1	0	0	0	0	1	0	0	0	243	943	33	2	1119	2	ADAM21	14	70925333	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	15320531	70925333	36424207	479	94591											
FAM161B	145483	broad.mit.edu	37	chr14	74404816	74404816	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttttttcaagtgcacttCtaaaggaaggaggcagaaaa	14	12	9	6	0	3	1	1	0	2	1	3	3	3	3	0	3	1	2	0	3	6	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:74404816C>G	ENST00000286544.3	-	6	1788		c.e6-1		FAM161B_ENST00000534936.1_Splice_Site|RP5-1021I20.5_ENST00000555916.1_RNA	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AAGTGCACTTCTAAAGGAAGG	0.428													46	91					0	0	0	0	G	74404816	C	G	74404816	5	3	489	1	0	0	0	0	0	0	1	0	5514	927	32	2	559	2	FAM161B	14	74404816	Splice_Site	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3479483	74404816	32944724	480	94592											
PPP4R4	57718	broad.mit.edu	37	chr14	94700935	94700935	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcctctggtaaaatcactCtgtcaagatgtagaatatga	13	13	7	8	0	4	3	2	1	2	2	5	3	5	3	1	1	0	2	1	1	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:94700935C>G	ENST00000304338.3	+	7	814	c.660C>G	c.(658-660)ctC>ctG	p.L220L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	220						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TAAAATCACTCTGTCAAGATG	0.373													7	37					0	0	0	0	G	94700935	C	G	94700935	2	3	489	1	0	0	0	0	0	0	0	1	12481	900	32	2		2	PPP4R4	14	94700935	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	20296119	94700935	12648605	481	94593											
CKB	1152	broad.mit.edu	37	chr14	103987706	103987706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcgatgagctgctgctgctCcgcctccgtcatgctcttga	4	12	11	14	3	2	2	1	2	1	0	5	3	4	2	3	0	5	5	3	0	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:103987706C>T	ENST00000348956.2	-	5	904	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	183	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TGCTGCTGCTCCGCCTCCGTC	0.716													6	21					0	0	0	0	T	103987706	C	T	103987706	3	4	489	1	0	0	0	0	1	0	0	0	3476	864	30	2	614	2	CKB	14	103987706	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	9286771	103987706	3361834	482	94594											
AHNAK2	113146	broad.mit.edu	37	chr14	105417917	105417917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccacctccacactgggcaGagacacagccacttcgtggg	9	6	11	15	1	0	1	0	0	0	1	3	2	2	1	4	2	1	1	4	2	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:105417917G>C	ENST00000333244.5	-	7	3990	c.3871C>G	c.(3871-3873)Ctg>Gtg	p.L1291V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1291						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACTGGGCAGAGACACAGCC	0.632													46	198					0	0	0	0	C	105417917	G	C	105417917	3	2	489	1	0	0	0	0	1	0	0	0	415	933	33	2	13520	2	AHNAK2	14	105417917	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1430211	105417917	1931623	483	94595											
UBE3A	7337	broad.mit.edu	37	chr15	25615787	25615787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggattcaactgctgtccttGaactaagctgtagagaacag	12	11	10	8	0	1	2	1	1	0	1	2	4	2	3	1	1	5	3	1	1	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:25615787G>C	ENST00000232165.3	-	6	2190	c.1534C>G	c.(1534-1536)Caa>Gaa	p.Q512E	UBE3A_ENST00000438097.1_Missense_Mutation_p.Q492E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.Q515E|UBE3A_ENST00000428984.2_Missense_Mutation_p.Q492E|UBE3A_ENST00000566215.1_Missense_Mutation_p.Q492E	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	515	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCTGTCCTTGAACTAAGCTG	0.373													47	123					0	0	0	0	C	25615787	G	C	25615787	3	2	489	1	0	0	0	0	1	0	0	0	16975	1299	45	2	1116	2	UBE3A	15	25615787	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		25615787	76915605	484	94596											
PGBD4	161779	broad.mit.edu	37	chr15	34395296	34395296	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttggatacaccttatctCaggcaaattatgactggtga	11	14	8	8	0	1	2	1	2	1	0	2	3	1	3	1	3	1	1	1	3	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:34395296C>G	ENST00000397766.2	+	1	1023	c.564C>G	c.(562-564)ctC>ctG	p.L188L		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	188										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CACCTTATCTCAGGCAAATTA	0.388													55	157					0	0	0	0	G	34395296	C	G	34395296	2	3	489	1	0	0	0	0	0	0	0	1	11855	813	29	2		2	PGBD4	15	34395296	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8779509	34395296	68136096	485	94597											
TMCO5A	145942	broad.mit.edu	37	chr15	38229091	38229091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcggggcctggtggaagatGaagagtgggagaaggagaac	12	4	20	5	2	0	5	0	1	0	4	0	8	0	6	1	6	1	0	1	6	4	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:38229091G>A	ENST00000558158.1	+	4	338	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TMCO5A_ENST00000319669.4_Missense_Mutation_p.E62K|TMCO5A_ENST00000559502.1_Missense_Mutation_p.E62K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E62K			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	62						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGTGGAAGATGAAGAGTGGGA	0.522													13	35					0	0	0	0	A	38229091	G	A	38229091	3	1	489	1	0	0	0	0	1	0	0	0	16093	1291	45	2	190	2	TMCO5A	15	38229091	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3833795	38229091	64302301	486	94598											
THBS1	7057	broad.mit.edu	37	chr15	39874094	39874094	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactaggcgtcctgttcctGatgcatgtgtgtggcaccaa	7	11	13	10	1	0	1	0	1	0	0	2	2	2	2	3	3	1	3	3	3	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:39874094G>C	ENST00000260356.5	+	2	201	c.36G>C	c.(34-36)ctG>ctC	p.L12L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	12					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCCTGTTCCTGATGCATGTGT	0.597											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	44					0	0	0	0	C	39874094	G	C	39874094	2	2	489	1	0	0	0	0	0	0	0	1	15947	1277	45	2		2	THBS1	15	39874094	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1645003	39874094	62657298	487	94599											
BUB1B	701	broad.mit.edu	37	chr15	40512778	40512778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttaggctaaaagatggtGaattgtggaataaattcttt	13	17	9	2	0	1	2	0	1	1	1	1	3	1	3	0	3	0	1	0	3	7	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40512778G>A	ENST00000287598.6	+	23	3166	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	BUB1B_ENST00000412359.3_Missense_Mutation_p.E1005K|PAK6_ENST00000441369.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	991	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AAAAGATGGTGAATTGTGGAA	0.353			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				39	145					0	0	0	0	A	40512778	G	A	40512778	3	1	489	1	0	0	0	0	1	0	0	0	1580	1291	45	2	3061	2	BUB1B	15	40512778	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	638684	40512778	62018614	488	94600											
CASC5	57082	broad.mit.edu	37	chr15	40914270	40914270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtaccagtgaatctcactCtcagagcaaaagctcttcag	13	9	8	11	0	4	2	3	1	3	1	6	3	4	2	1	0	3	3	1	0	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40914270C>G	ENST00000346991.5	+	11	2276	c.1886C>G	c.(1885-1887)tCt>tGt	p.S629C	CASC5_ENST00000399668.2_Missense_Mutation_p.S603C|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	629	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.S629F(2)|p.S629C(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAATCTCACTCTCAGAGCAAA	0.398													21	59					0	0	0	0	G	40914270	C	G	40914270	3	3	489	1	0	0	0	0	1	0	0	0	2688	913	32	2	1924	2	CASC5	15	40914270	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	401492	40914270	61617122	489	94601											
CASC5	57082	broad.mit.edu	37	chr15	40915624	40915624	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacaaagtcctggatttctGaatgaacctctatcaagcaa	14	11	7	9	0	3	2	1	2	2	0	4	3	4	3	2	1	3	2	2	1	7	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40915624G>A	ENST00000346991.5	+	11	3630	c.3240G>A	c.(3238-3240)ctG>ctA	p.L1080L	CASC5_ENST00000399668.2_Silent_p.L1054L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1080	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGGATTTCTGAATGAACCTC	0.353													17	71					0	0	0	0	A	40915624	G	A	40915624	2	1	489	1	0	0	0	0	0	0	0	1	2688	1277	45	2		2	CASC5	15	40915624	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1354	40915624	61615768	490	94602											
CASC5	57082	broad.mit.edu	37	chr15	40949601	40949601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accattgcagactccttggaGaggagattgagtatttaaag	13	11	11	6	0	0	4	0	1	0	3	1	6	1	4	2	2	1	2	2	2	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40949601G>A	ENST00000346991.5	+	25	7111	c.6721G>A	c.(6721-6723)Gag>Aag	p.E2241K	CASC5_ENST00000399668.2_Missense_Mutation_p.E2215K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2241	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACTCCTTGGAGAGGAGATTGA	0.348													37	136					0	0	0	0	A	40949601	G	A	40949601	3	1	489	1	0	0	0	0	1	0	0	0	2688	943	33	2	6815	2	CASC5	15	40949601	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	33977	40949601	61581791	491	94603											
CASC5	57082	broad.mit.edu	37	chr15	40949621	40949621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagattgagtatttaaaGagatggggaccaaattataa	17	10	12	2	0	0	3	0	1	0	2	0	7	0	4	1	3	0	1	1	3	6	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40949621G>T	ENST00000346991.5	+	25	7131	c.6741G>T	c.(6739-6741)aaG>aaT	p.K2247N	CASC5_ENST00000399668.2_Missense_Mutation_p.K2221N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2247	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGTATTTAAAGAGATGGGGAC	0.363													30	119					2.46105e-21	2.63491e-21	1	0	T	40949621	G	T	40949621	3	4	489	1	0	0	0	0	1	0	0	0	2688	933	33	2	6835	2	CASC5	15	40949621	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	20	40949621	61581771	492	94604											
FRMD5	84978	broad.mit.edu	37	chr15	44211674	44211674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctggttatttcttctttCagagcagcagggtctgcagg	7	13	11	10	0	4	1	1	0	3	1	4	1	4	1	1	3	3	4	1	3	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:44211674C>T	ENST00000417257.1	-	4	488	c.312G>A	c.(310-312)ctG>ctA	p.L104L	FRMD5_ENST00000402883.1_Silent_p.L104L|FRMD5_ENST00000484674.1_Silent_p.L15L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	104	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTTCTTCTTTCAGAGCAGCAG	0.512													52	197					0	0	0	0	T	44211674	C	T	44211674	2	4	489	1	0	0	0	0	0	0	0	1	6101	813	29	2		2	FRMD5	15	44211674	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3262053	44211674	58319718	493	94605											
SHF	90525	broad.mit.edu	37	chr15	45464441	45464441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacttggggttccctgcaGagagtcggggaggtagccgc	6	8	17	10	2	0	2	0	1	0	1	2	4	1	3	2	5	2	3	2	5	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:45464441G>A	ENST00000290894.8	-	6	1363	c.869C>T	c.(868-870)tCt>tTt	p.S290F	SHF_ENST00000560471.1_Missense_Mutation_p.S355F|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.S300F|SHF_ENST00000458022.2_Missense_Mutation_p.S106F|SHF_ENST00000560540.1_Missense_Mutation_p.S308F|SHF_ENST00000560734.1_Intron	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	290										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GTTCCCTGCAGAGAGTCGGGG	0.607													16	50					0	0	0	0	A	45464441	G	A	45464441	3	1	489	1	0	0	0	0	1	0	0	0	14365	942	33	2	414	2	SHF	15	45464441	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1252767	45464441	57066951	494	94606											
MYO5A	4644	broad.mit.edu	37	chr15	52725455	52725455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgacttccagacttcctCtggatcaggtatccaaaccc	9	11	7	14	0	2	2	1	1	1	1	5	3	5	3	4	2	2	2	4	2	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:52725455C>G	ENST00000399231.3	-	2	298	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	MYO5A_ENST00000399233.2_Missense_Mutation_p.E19Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.E19Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.E19Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.E19Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	19	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAGACTTCCTCTGGATCAGGT	0.373													40	102					0	0	0	0	G	52725455	C	G	52725455	3	3	489	1	0	0	0	0	1	0	0	0	10148	922	32	2	5672	2	MYO5A	15	52725455	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7261014	52725455	49805937	495	94607											
CCPG1	9236	broad.mit.edu	37	chr15	55681565	55681565	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtattaaatatcatacctCatgactgatgacagtccaac	16	11	5	9	0	2	3	2	3	0	0	3	3	3	3	2	0	2	1	2	0	7	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:55681565C>A	ENST00000310958.6	-	2	356	c.58G>T	c.(58-60)Gag>Tag	p.E20*	CCPG1_ENST00000425574.3_Nonsense_Mutation_p.E20*|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.E20*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.E20*|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	20	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TATCATACCTCATGACTGATG	0.313													17	65					5.3912e-06	5.51673e-06	1	0	A	55681565	C	A	55681565	4	1	489	1	0	0	0	0	0	1	0	0	2967	835	29	2	2243	2	CCPG1	15	55681565	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2956110	55681565	46849827	496	94608											
DYX1C1	161582	broad.mit.edu	37	chr15	55783446	55783446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaattctttgcatcatctCtttgtcaactaaaatgtaca	12	17	3	9	0	5	0	2	0	3	0	6	0	5	0	0	0	3	2	0	0	5	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:55783446C>G	ENST00000321149.3	-	4	647	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	DYX1C1_ENST00000380679.1_Missense_Mutation_p.E94Q|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E94Q|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E94Q|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E94Q|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	94	Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TGCATCATCTCTTTGTCAACT	0.323													13	47					0	0	0	0	G	55783446	C	G	55783446	3	3	489	1	0	0	0	0	1	0	0	0	4898	922	32	2	1113	2	DYX1C1	15	55783446	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	101881	55783446	46747946	497	94609											
RFX7	64864	broad.mit.edu	37	chr15	56387309	56387309	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaaggaaagtagctttCatttgtctgggaaacagaag	16	10	10	5	0	3	1	2	0	1	1	3	3	3	3	0	2	2	2	0	2	6	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56387309C>A	ENST00000423270.1	-	9	2616	c.2617G>T	c.(2617-2619)Gaa>Taa	p.E873*	RFX7_ENST00000559447.2_Nonsense_Mutation_p.E776*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.E873*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.E776*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	776					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGTAGCTTTCATTTGTCTGG	0.373													16	49					1.52009e-12	1.60983e-12	1	0	A	56387309	C	A	56387309	4	1	489	1	0	0	0	0	0	1	0	0	13350	835	29	2	1769	2	RFX7	15	56387309	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	603863	56387309	46144083	498	94610			5	159		6	5	1100	N	C	1.630266e-08
RFX7	64864	broad.mit.edu	37	chr15	56387817	56387817	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgttgaaccttctgttttCcctgaatgtggaaccttttg	6	17	9	9	0	1	2	0	2	1	0	2	3	2	3	3	1	2	3	3	1	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56387817C>A	ENST00000423270.1	-	9	2108	c.2109G>T	c.(2107-2109)ggG>ggT	p.G703G	RFX7_ENST00000559447.2_Silent_p.G606G|RFX7_ENST00000317318.6_Silent_p.G703G|RFX7_ENST00000422057.1_Silent_p.G606G	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	606					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCTGTTTTCCCTGAATGTG	0.448													23	82					3.62473e-10	3.79302e-10	1	0	A	56387817	C	A	56387817	2	1	489	1	0	0	0	0	0	0	0	1	13350	842	30	2		2	RFX7	15	56387817	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	508	56387817	46143575	499	94611			5	159		6	5	1100	N	C	1.630266e-08
RFX7	64864	broad.mit.edu	37	chr15	56388213	56388213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccgtctgtattacttttCtgccccaaaagggcactagg	8	12	9	12	1	2	0	0	0	2	0	3	0	3	0	3	2	2	3	3	2	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388213C>T	ENST00000423270.1	-	9	1712	c.1713G>A	c.(1711-1713)caG>caA	p.Q571Q	RFX7_ENST00000559447.2_Silent_p.Q474Q|RFX7_ENST00000317318.6_Silent_p.Q571Q|RFX7_ENST00000422057.1_Silent_p.Q474Q	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	474					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TATTACTTTTCTGCCCCAAAA	0.453													8	23					0	0	0	0	T	56388213	C	T	56388213	2	4	489	1	0	0	0	0	0	0	0	1	13350	912	32	2		2	RFX7	15	56388213	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	396	56388213	46143179	500	94612			5	159		6	5	1100	N	C	1.630266e-08
RFX7	64864	broad.mit.edu	37	chr15	56388287	56388287	+	Missense_Mutation	SNP	C	C	T																															ttggcactgtacaggatgctCatctgatgatgtttcgggtt																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388287C>T	ENST00000423270.1	-	9	1638	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	RFX7_ENST00000559447.2_Missense_Mutation_p.E450K|RFX7_ENST00000317318.6_Missense_Mutation_p.E547K|RFX7_ENST00000422057.1_Missense_Mutation_p.E450K	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	450					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGGATGCTCATCTGATGAT	0.532													12	43					0	0	0	0	T	56388287	C	T	56388287	3	4	489	1	0	0	0	0	1	0	0	0	13350	835	29	2	2747	2	RFX7	15	56388287	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	74	56388287	46143105	501	94613	1128	2	5	159		6	5	1100	N	C	1.630266e-08
RFX7	64864	broad.mit.edu	37	chr15	56388290	56388290	+	Missense_Mutation	SNP	C	C	T																															gcactgtacaggatgctcatCtgatgatgtttcgggttcca																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388290C>T	ENST00000423270.1	-	9	1635	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	RFX7_ENST00000559447.2_Missense_Mutation_p.D449N|RFX7_ENST00000317318.6_Missense_Mutation_p.D546N|RFX7_ENST00000422057.1_Missense_Mutation_p.D449N	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	449					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGATGCTCATCTGATGATGTT	0.527													12	44					0	0	0	0	T	56388290	C	T	56388290	3	4	489	1	0	0	0	0	1	0	0	0	13350	913	32	2	2750	2	RFX7	15	56388290	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3	56388290	46143102	502	94614	1128	2	5	159		6	5	1100	N	C	1.630266e-08
RFX7	64864	broad.mit.edu	37	chr15	56388408	56388408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttgatctgtggaacactCcttgattcttctgttgttcc	5	19	7	10	0	4	2	0	2	4	0	6	3	6	3	2	1	1	2	2	1	1	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388408C>T	ENST00000423270.1	-	9	1517	c.1518G>A	c.(1516-1518)agG>agA	p.R506R	RFX7_ENST00000559447.2_Silent_p.R409R|RFX7_ENST00000317318.6_Silent_p.R506R|RFX7_ENST00000422057.1_Silent_p.R409R	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	409					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTGGAACACTCCTTGATTCTT	0.498													11	56					0	0	0	0	T	56388408	C	T	56388408	2	4	489	1	0	0	0	0	0	0	0	1	13350	854	30	2		2	RFX7	15	56388408	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	118	56388408	46142984	503	94615			5	159		6	5	1100	N	C	1.630266e-08
NOX5	79400	broad.mit.edu	37	chr15	69348931	69348931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaagtggctgctgagaaGaagggcaaggtgcaggtctt	12	7	16	6	0	1	3	0	1	1	3	1	4	1	3	0	4	2	4	0	4	4	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:69348931G>A	ENST00000260364.5	+	17	2440	c.2139G>A	c.(2137-2139)aaG>aaA	p.K713K	NOX5_ENST00000448182.3_Silent_p.K685K|NOX5_ENST00000388866.3_Silent_p.K731K|NOX5_ENST00000455873.3_Silent_p.K696K|NOX5_ENST00000530406.2_Silent_p.K703K			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	731					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGCTGAGAAGAAGGGCAAGG	0.532													25	78					0	0	0	0	A	69348931	G	A	69348931	2	1	489	1	0	0	0	0	0	0	0	1	10629	933	33	2		2	NOX5	15	69348931	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12960523	69348931	33182461	504	94616											
LRRC49	54839	broad.mit.edu	37	chr15	71211413	71211413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaaattgaaaatattaatCatttgtgtgagttgagagtt	15	15	8	3	0	1	3	1	3	0	1	1	4	1	3	1	0	0	2	1	0	6	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:71211413C>T	ENST00000260382.5	+	7	852	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	LRRC49_ENST00000544974.2_Missense_Mutation_p.H188Y|LRRC49_ENST00000443425.2_Missense_Mutation_p.H154Y|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.H203Y	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	198						cytoplasm|microtubule		p.H198Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAATATTAATCATTTGTGTGA	0.313													34	101					0	0	0	0	T	71211413	C	T	71211413	3	4	489	1	0	0	0	0	1	0	0	0	9070	826	29	2	618	2	LRRC49	15	71211413	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1862482	71211413	31319979	505	94617											
C15orf59	388135	broad.mit.edu	37	chr15	74032295	74032295	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctgtctagtggctgtgTagggcagaaccgtctgcgtg	5	13	14	9	2	3	1	0	0	3	1	3	1	3	1	1	2	2	3	1	2	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:74032295T>G	ENST00000569673.1	-	3	2049	c.845A>C	c.(844-846)tAc>tCc	p.Y282S	C15orf59_ENST00000379822.4_Missense_Mutation_p.Y282S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	282										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTGGCTGTGTAGGGCAGAAC	0.547													39	146					0	0	0	0	G	74032295	T	G	74032295	3	3	489	1	0	0	0	0	1	0	0	0	1819	1638	57	5	40	5	C15orf59	15	74032295	Missense_Mutation	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	2820882	74032295	28499097	506	94618											
GOLGA6A	342096	broad.mit.edu	37	chr15	74364606	74364606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggatgtttggcgtgggccGaggcgcctcctcctcctcac	3	10	14	14	3	1	0	1	0	0	0	4	2	4	1	5	4	0	1	5	4	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:74364606G>A	ENST00000290438.3	-	14	1586	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	516										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCGTGGGCCGAGGCGCCTCC	0.637													5	101					0	0	0	0	A	74364606	G	A	74364606	3	1	489	1	0	0	0	0	1	0	0	0	6608	1057	37	1	555	1	GOLGA6A	15	74364606	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	332311	74364606	28166786	507	94619											
SNX33	257364	broad.mit.edu	37	chr15	75941771	75941771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcaaaccagggtagctttGaggaggatgatgatgatgac	12	10	13	6	0	1	5	1	5	1	0	2	7	1	7	1	3	2	2	1	3	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:75941771G>C	ENST00000308527.5	+	1	1525	c.328G>C	c.(328-330)Gag>Cag	p.E110Q		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	110					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGGTAGCTTTGAGGAGGATGA	0.632													17	52					0	0	0	0	C	75941771	G	C	75941771	3	2	489	1	0	0	0	0	1	0	0	0	14991	1291	45	2	330	2	SNX33	15	75941771	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1577165	75941771	26589621	508	94620											
ACSBG1	23205	broad.mit.edu	37	chr15	78470989	78470989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgatgtagaggaagccatCggcgtccaggcggccagcat	10	6	15	10	3	0	2	0	1	0	1	2	3	1	3	3	4	2	2	3	4	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:78470989C>T	ENST00000258873.4	-	11	1874	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	ACSBG1_ENST00000541759.1_Missense_Mutation_p.D315N|ACSBG1_ENST00000560817.1_Missense_Mutation_p.D315N	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	557					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGGAAGCCATCGGCGTCCAGG	0.612													7	27					0	0	0	0	T	78470989	C	T	78470989	3	4	489	1	0	0	0	0	1	0	0	0	173	884	31	1	521	1	ACSBG1	15	78470989	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2529218	78470989	24060403	509	94621											
ADAMTS7	11173	broad.mit.edu	37	chr15	79089016	79089016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcagctactaccagggtCtccacccacttctctttgct	7	12	6	16	0	3	0	1	0	2	0	5	0	3	0	3	1	4	3	3	1	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:79089016C>T	ENST00000388820.4	-	4	945	c.735G>A	c.(733-735)gaG>gaA	p.E245E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	245	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTACCAGGGTCTCCACCCACT	0.607													36	110					0	0	0	0	T	79089016	C	T	79089016	2	4	489	1	0	0	0	0	0	0	0	1	271	912	32	2		2	ADAMTS7	15	79089016	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	618027	79089016	23442376	510	94622											
PRR25	388199	broad.mit.edu	37	chr16	855560	855560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accccatgggtcacaggcctCgaacgtgcatcctgctacgt	8	8	10	15	3	1	0	1	0	0	0	3	1	2	0	4	2	4	2	4	2	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:855560C>G	ENST00000301698.1	+	1	118	c.118C>G	c.(118-120)Cga>Gga	p.R40G		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	40										large_intestine(1)|lung(1)|skin(1)	3						TCACAGGCCTCGAACGTGCAT	0.667													5	25					0	0	0	0	G	855560	C	G	855560	3	3	489	1	0	0	0	0	1	0	0	0	12676	876	31	3	120	3	PRR25	16	855560	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		855560	89499193	511	94623											
PRR25	388199	broad.mit.edu	37	chr16	855650	855650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccctgggcggccggcactCacttcctggctatctctacc	4	9	11	17	2	2	0	1	0	1	0	4	0	3	0	4	5	1	2	4	5	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:855650C>G	ENST00000301698.1	+	1	208	c.208C>G	c.(208-210)Cac>Gac	p.H70D		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	70										large_intestine(1)|lung(1)|skin(1)	3						GGCCGGCACTCACTTCCTGGC	0.627													8	32					0	0	0	0	G	855650	C	G	855650	3	3	489	1	0	0	0	0	1	0	0	0	12676	826	29	2	210	2	PRR25	16	855650	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	90	855650	89499103	512	94624											
GFER	2671	broad.mit.edu	37	chr16	2035901	2035901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccagacacccgcacccggGcatgcttcacacagtggctg	9	5	10	17	2	1	1	1	0	0	1	1	1	1	1	3	2	1	4	3	2	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:2035901G>A	ENST00000248114.6	+	3	496	c.490G>A	c.(490-492)Gca>Aca	p.A164T	GFER_ENST00000569451.1_Missense_Mutation_p.G98D|GFER_ENST00000567719.1_Missense_Mutation_p.A89T|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	164	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						CCGCACCCGGGCATGCTTCAC	0.607													4	137					0	0	0	0	A	2035901	G	A	2035901	3	1	489	1	0	0	0	0	1	0	0	0	6389	1203	42	4	500	4	GFER	16	2035901	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1180251	2035901	88318852	513	94625											
OR1F1	4992	broad.mit.edu	37	chr16	3254586	3254586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggacatggacaatttcCtcctagctgtgatggcctat	8	13	10	10	1	0	1	0	1	0	0	3	3	2	3	3	3	1	1	3	3	3	3	rs149534710		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3254586C>T	ENST00000304646.2	+	1	340	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GGACAATTTCCTCCTAGCTGT	0.507													45	204					0	0	0	0	T	3254586	C	T	3254586	3	4	489	1	0	0	0	0	1	0	0	0	11027	681	24	4	342	4	OR1F1	16	3254586	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1218685	3254586	87100167	514	94626											
NLRC3	197358	broad.mit.edu	37	chr16	3611708	3611708	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggtctgtgttacctgatCttctgaatgcgacagtcctt	6	15	10	10	1	3	2	0	2	3	0	4	3	4	2	2	1	2	1	2	1	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3611708C>G	ENST00000301749.7	-	0	2415				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTACCTGATCTTCTGAATGC	0.612													22	89					0	0	0	0	G	3611708	C	G	3611708	1	3	489	0	1	0	0	0	0	0	0	0	10538	912	32	2		2	NLRC3	16	3611708	RNA	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	357122	3611708	86743045	515	94627											
CREBBP	1387	broad.mit.edu	37	chr16	3786674	3786674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagtcatggatgatccgctCtgcaaacgccttgtccagca	9	10	10	12	2	2	1	1	1	1	0	4	2	4	2	3	1	3	4	3	1	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3786674C>T	ENST00000262367.5	-	27	5346	c.4537G>A	c.(4537-4539)Gag>Aag	p.E1513K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1475K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1513	Interaction with TRERF1.			FAE -> NSG (in Ref. 2; AAC51340).	cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGATCCGCTCTGCAAACGCC	0.478			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						21	142					0	0	0	0	T	3786674	C	T	3786674	3	4	489	1	0	0	0	0	1	0	0	0	3891	922	32	2	2811	2	CREBBP	16	3786674	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	174966	3786674	86568079	516	94628											
CREBBP	1387	broad.mit.edu	37	chr16	3789610	3789610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggggcaatcagagccgtAttcttggacgtgcattccaa	10	9	13	9	2	2	1	1	0	1	1	3	2	3	2	2	4	2	3	2	4	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3789610A>G	ENST00000262367.5	-	25	5058	c.4249T>C	c.(4249-4251)Tac>Cac	p.Y1417H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1379H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1417	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCAGAGCCGTATTCTTGGACG	0.488			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						27	41					0	0	0	0	G	3789610	A	G	3789610	3	3	489	1	0	0	0	0	1	0	0	0	3891	449	16	5	3107	5	CREBBP	16	3789610	Missense_Mutation	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	2936	3789610	86565143	517	94629											
ABAT	18	broad.mit.edu	37	chr16	8875228	8875228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcccacgctggtcttcaggGatcaccacgctcacctgttc	6	10	9	16	2	4	0	3	0	1	0	6	1	5	1	3	2	0	3	3	2	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:8875228G>A	ENST00000396600.2	+	16	2382	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	ABAT_ENST00000268251.8_Missense_Mutation_p.D482N|ABAT_ENST00000569156.1_Silent_p.G501G|ABAT_ENST00000425191.2_Missense_Mutation_p.D482N|ABAT_ENST00000567812.1_Missense_Mutation_p.D497N|TMEM186_ENST00000564869.1_5'UTR	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	482					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTCTTCAGGGATCACCACGC	0.507													21	95					0	0	0	0	A	8875228	G	A	8875228	3	1	489	1	0	0	0	0	1	0	0	0	27	1174	41	2	1502	2	ABAT	16	8875228	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5085618	8875228	81479525	518	94630											
TMC7	79905	broad.mit.edu	37	chr16	19027857	19027857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcttggaagaggttcctaGagaaggctcgagagatgacg	12	8	15	6	2	1	4	0	1	1	3	3	8	2	5	1	3	0	2	1	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:19027857G>C	ENST00000421369.3	+	3	625	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	TMC7_ENST00000569532.1_Missense_Mutation_p.E133Q|TMC7_ENST00000304381.5_Missense_Mutation_p.E133Q	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	133						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGGTTCCTAGAGAAGGCTCG	0.537													15	38					0	0	0	0	C	19027857	G	C	19027857	3	2	489	1	0	0	0	0	1	0	0	0	16084	943	33	2	407	2	TMC7	16	19027857	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	10152629	19027857	71326896	519	94631											
TMC7	79905	broad.mit.edu	37	chr16	19027917	19027917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaggacatccgcagcataGaaggtatgctgtcctcacct	10	8	12	11	1	1	1	1	0	0	1	3	3	3	3	3	3	2	4	3	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:19027917G>A	ENST00000421369.3	+	3	685	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	TMC7_ENST00000569532.1_Missense_Mutation_p.E153K|TMC7_ENST00000304381.5_Missense_Mutation_p.E153K	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	153						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCGCAGCATAGAAGGTATGCT	0.552													12	26					0	0	0	0	A	19027917	G	A	19027917	3	1	489	1	0	0	0	0	1	0	0	0	16084	943	33	2	467	2	TMC7	16	19027917	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	60	19027917	71326836	520	94632											
GPR139	124274	broad.mit.edu	37	chr16	20043513	20043513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtacacaatgattgagttCaagatgaagaagatggagca	16	10	11	4	0	1	6	1	3	0	3	1	7	1	7	0	1	2	3	0	1	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:20043513C>T	ENST00000570682.1	-	2	906	c.606G>A	c.(604-606)ttG>ttA	p.L202L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	202						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGATTGAGTTCAAGATGAAGA	0.512													19	44					0	0	0	0	T	20043513	C	T	20043513	2	4	489	1	0	0	0	0	0	0	0	1	6697	825	29	2		2	GPR139	16	20043513	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1015596	20043513	70311240	521	94633											
DNAH3	55567	broad.mit.edu	37	chr16	21078642	21078642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttctccaagtaatcattCagccctttctggatgtcctc	7	16	5	13	0	5	0	2	0	3	0	8	1	6	1	3	1	1	1	3	1	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:21078642C>T	ENST00000261383.3	-	24	3479	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	DNAH3_ENST00000415178.1_Silent_p.L1160L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1160	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTAATCATTCAGCCCTTTCT	0.443													21	90					0	0	0	0	T	21078642	C	T	21078642	2	4	489	1	0	0	0	0	0	0	0	1	4640	813	29	2		2	DNAH3	16	21078642	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1035129	21078642	69276111	522	94634											
DNAH3	55567	broad.mit.edu	37	chr16	21151926	21151926	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgctgtaacatgacatcGagctgctgttctggactcat	8	13	9	11	1	2	1	1	1	1	0	4	3	3	2	1	1	4	5	1	1	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:21151926G>A	ENST00000261383.3	-	5	626	c.627C>T	c.(625-627)ctC>ctT	p.L209L	DNAH3_ENST00000415178.1_Silent_p.L209L|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	209	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATGACATCGAGCTGCTGTT	0.483													29	79					0	0	0	0	A	21151926	G	A	21151926	2	1	489	1	0	0	0	0	0	0	0	1	4640	1045	37	1		1	DNAH3	16	21151926	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	73284	21151926	69202827	523	94635											
SPNS1	83985	broad.mit.edu	37	chr16	28992821	28992821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctaggagtggtggccgttCtgctgctgttcctggtagtg	3	14	16	8	1	2	0	0	0	2	0	3	1	3	1	2	4	2	5	2	4	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:28992821C>T	ENST00000311008.11	+	6	1071	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Silent_p.L159L|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000352260.7_Silent_p.L210L|SPNS1_ENST00000334536.8_Silent_p.L232L|SPNS1_ENST00000565975.1_Silent_p.L277L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	232					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGTGGCCGTTCTGCTGCTGTT	0.632											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44					0	0	0	0	T	28992821	C	T	28992821	2	4	489	1	0	0	0	0	0	0	0	1	15164	912	32	2		2	SPNS1	16	28992821	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	7840895	28992821	61361932	524	94636											
MVP	9961	broad.mit.edu	37	chr16	29858706	29858706	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgggcctgagatgcaGgtgagagttggggaaggtgt	7	9	21	4	0	0	2	0	2	0	2	0	5	0	3	1	6	1	3	1	6	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:29858706G>A	ENST00000357402.5	+	14	2592	c.2454_splice	c.e14+1	p.Q818_splice	MVP_ENST00000395353.1_Splice_Site_p.Q818_splice	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	818					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTGAGATGCAGGTGAGAGTTG	0.552													6	14					0	0	0	0	A	29858706	G	A	29858706	5	1	489	1	0	0	0	0	0	0	1	0	10066	1014	35	4	2504	4	MVP	16	29858706	Splice_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	865885	29858706	60496047	525	94637											
ALDOA	226	broad.mit.edu	37	chr16	30081230	30081230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaacaagtgccccctgctGaagccctgggccctgacctt	8	9	9	15	0	0	2	0	2	0	0	0	2	0	2	5	1	4	1	5	1	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30081230G>A	ENST00000566897.1	+	11	2031	c.879G>A	c.(877-879)ctG>ctA	p.L293L	ALDOA_ENST00000412304.2_Silent_p.L293L|ALDOA_ENST00000395248.1_Silent_p.L347L|ALDOA_ENST00000564546.1_Silent_p.L293L|ALDOA_ENST00000569798.1_Silent_p.L293L|ALDOA_ENST00000338110.5_Silent_p.L293L|ALDOA_ENST00000564595.2_Silent_p.L347L|ALDOA_ENST00000569545.1_Silent_p.L293L|ALDOA_ENST00000395240.3_Silent_p.L297L|ALDOA_ENST00000563060.2_Silent_p.L293L			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	293					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCCCCTGCTGAAGCCCTGGG	0.637													14	40					0	0	0	0	A	30081230	G	A	30081230	2	1	489	1	0	0	0	0	0	0	0	1	507	1277	45	2		2	ALDOA	16	30081230	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	222524	30081230	60273523	526	94638											
SRCAP	10847	broad.mit.edu	37	chr16	30721294	30721294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattgagctgcttcgccgtGagggagaattgccactggaa	10	9	14	8	2	0	4	0	2	0	2	1	6	0	5	2	2	3	2	2	2	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30721294G>A	ENST00000262518.4	+	8	1364	c.979G>A	c.(979-981)Gag>Aag	p.E327K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E327K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E327K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	327	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTTCGCCGTGAGGGAGAATT	0.542													13	30					0	0	0	0	A	30721294	G	A	30721294	3	1	489	1	0	0	0	0	1	0	0	0	15225	1291	45	2	1001	2	SRCAP	16	30721294	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	640064	30721294	59633459	527	94639											
BCL7C	9274	broad.mit.edu	37	chr16	30899219	30899219	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatttgggcagatgcgcttGagtgggggggcaccctccga	6	8	17	10	2	0	2	0	1	0	1	1	3	1	2	2	4	1	4	2	4	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30899219G>C	ENST00000215115.4	-	6	1636	c.621C>G	c.(619-621)ctC>ctG	p.L207L	MIR4519_ENST00000564901.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000565573.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	207	Pro-rich.				apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			AGATGCGCTTGAGTGGGGGGG	0.617													58	150					0	0	0	0	C	30899219	G	C	30899219	2	2	489	1	0	0	0	0	0	0	0	1	1384	1277	45	2		2	BCL7C	16	30899219	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	177925	30899219	59455534	528	94640											
SLC5A2	6524	broad.mit.edu	37	chr16	31500498	31500498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggcctggcacgcctgattCccgagttctccttcggctcg	3	11	12	15	4	1	1	0	1	1	0	5	2	2	1	4	3	0	3	4	3	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:31500498C>T	ENST00000330498.3	+	12	1523	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	502					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						ACGCCTGATTCCCGAGTTCTC	0.637													6	50					0	0	0	0	T	31500498	C	T	31500498	3	4	489	1	0	0	0	0	1	0	0	0	14753	855	30	2	1550	2	SLC5A2	16	31500498	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	601279	31500498	58854255	529	94641											
SLC5A2	6524	broad.mit.edu	37	chr16	31500538	31500538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcagctgtgtgcagccctCggcgtgcccagctttcctct	3	10	13	15	2	1	0	0	0	1	0	3	0	2	0	3	2	5	4	3	2	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:31500538C>T	ENST00000330498.3	+	12	1563	c.1544C>T	c.(1543-1545)tCg>tTg	p.S515L		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	515					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GTGCAGCCCTCGGCGTGCCCA	0.652													11	39					0	0	0	0	T	31500538	C	T	31500538	3	4	489	1	0	0	0	0	1	0	0	0	14753	893	31	1	1590	1	SLC5A2	16	31500538	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	40	31500538	58854215	530	94642											
LONP2	83752	broad.mit.edu	37	chr16	48333616	48333616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagattgcccataggcacttGatccccaagcagctggaaca	12	7	10	12	0	0	2	0	1	0	1	1	4	1	3	3	2	4	3	3	2	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:48333616G>A	ENST00000285737.4	+	10	1671	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	LONP2_ENST00000535754.1_Silent_p.L482L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	526					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATAGGCACTTGATCCCCAAGC	0.463													24	96					0	0	0	0	A	48333616	G	A	48333616	2	1	489	1	0	0	0	0	0	0	0	1	8957	1281	45	2		2	LONP2	16	48333616	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	16833078	48333616	42021137	531	94643											
NUP93	9688	broad.mit.edu	37	chr16	56782220	56782220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagcttgctgctgagactGagggcatctcagagcttccc	9	9	11	12	0	1	3	1	2	1	2	3	4	2	3	1	1	5	5	1	1	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:56782220G>C	ENST00000569842.1	+	2	157	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	NUP93_ENST00000308159.5_Missense_Mutation_p.E21Q			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	21					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCTGAGACTGAGGGCATCTC	0.537													18	78					0	0	0	0	C	56782220	G	C	56782220	3	2	489	1	0	0	0	0	1	0	0	0	10843	1291	45	2	63	2	NUP93	16	56782220	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	8448604	56782220	33572533	532	94644											
COQ9	57017	broad.mit.edu	37	chr16	57485028	57485028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaaggtcttcagatgagcaGaagcagcagcctcccaactc	12	7	9	13	0	2	3	1	1	1	2	4	3	3	3	2	1	5	3	2	1	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:57485028G>C	ENST00000262507.6	+	2	219	c.150G>C	c.(148-150)caG>caC	p.Q50H	COQ9_ENST00000567933.1_Missense_Mutation_p.Q50H|COQ9_ENST00000567072.1_Missense_Mutation_p.Q50H|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	50					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CAGATGAGCAGAAGCAGCAGC	0.557													16	35					0	0	0	0	C	57485028	G	C	57485028	3	2	489	1	0	0	0	0	1	0	0	0	3781	933	33	2	156	2	COQ9	16	57485028	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	702808	57485028	32869725	533	94645											
SLC9A5	6553	broad.mit.edu	37	chr16	67291449	67291449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctagacttttgaccacattCtggctgcagtggaggacgtt	8	13	11	9	1	2	2	0	1	2	1	2	4	2	4	1	3	1	3	1	3	1	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67291449C>G	ENST00000299798.11	+	9	1506	c.1441C>G	c.(1441-1443)Ctg>Gtg	p.L481V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	481					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGACCACATTCTGGCTGCAGT	0.617													20	43					0	0	0	0	G	67291449	C	G	67291449	3	3	489	1	0	0	0	0	1	0	0	0	14805	912	32	2	1475	2	SLC9A5	16	67291449	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	9806421	67291449	23063304	534	94646											
SLC9A5	6553	broad.mit.edu	37	chr16	67293492	67293492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggaggccacgtcttgtCttccacaggtctcactctgc	6	10	11	14	1	4	0	1	0	4	0	6	1	5	1	2	3	1	1	2	3	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67293492C>T	ENST00000299798.11	+	11	1708	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	548					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CACGTCTTGTCTTCCACAGGT	0.522													14	37					0	0	0	0	T	67293492	C	T	67293492	3	4	489	1	0	0	0	0	1	0	0	0	14805	913	32	2	1685	2	SLC9A5	16	67293492	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2043	67293492	23061261	535	94647											
SLC9A5	6553	broad.mit.edu	37	chr16	67293509	67293509	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcttccacaggtctcactCtgccttctatgcccagccgc	5	12	7	17	1	4	0	1	0	4	0	6	0	5	0	4	1	3	0	4	1	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67293509C>T	ENST00000299798.11	+	11	1725	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	554					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGTCTCACTCTGCCTTCTAT	0.552													12	46					0	0	0	0	T	67293509	C	T	67293509	2	4	489	1	0	0	0	0	0	0	0	1	14805	912	32	2		2	SLC9A5	16	67293509	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	17	67293509	23061244	536	94648											
SLC38A8	146167	broad.mit.edu	37	chr16	84065570	84065570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggcagccagagtgcctagGatgctaacacagtgaccgtg	11	6	13	11	1	0	2	0	1	0	1	0	3	0	3	3	2	4	2	3	2	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:84065570G>A	ENST00000299709.3	-	4	533	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	178					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGTGCCTAGGATGCTAACAC	0.607													8	65					0	0	0	0	A	84065570	G	A	84065570	2	1	489	1	0	0	0	0	0	0	0	1	14698	1164	41	2		2	SLC38A8	16	84065570	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	16772061	84065570	6289183	537	94649											
KIAA0513	9764	broad.mit.edu	37	chr16	85112592	85112592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctacctgtacacgcacctGaagcaacagcccatctggta	12	8	7	14	1	2	1	0	1	2	0	2	1	2	1	3	1	5	4	3	1	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:85112592G>A	ENST00000566428.1	+	8	1516	c.885G>A	c.(883-885)ctG>ctA	p.L295L	KIAA0513_ENST00000567328.1_Silent_p.L295L|KIAA0513_ENST00000538274.1_Silent_p.L295L|KIAA0513_ENST00000258180.3_Silent_p.L295L			O60268	K0513_HUMAN	KIAA0513	295						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACACGCACCTGAAGCAACAGC	0.592													13	49					0	0	0	0	A	85112592	G	A	85112592	2	1	489	1	0	0	0	0	0	0	0	1	8232	1277	45	2		2	KIAA0513	16	85112592	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1047022	85112592	5242161	538	94650											
ZC3H18	124245	broad.mit.edu	37	chr16	88653065	88653065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgacaggaaggtgaggcctCgtcccacctgccggttcttc	6	9	13	13	2	1	2	0	2	1	0	4	3	2	3	4	4	1	1	4	4	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:88653065C>T	ENST00000301011.5	+	3	861	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R221C	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	221						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGTGAGGCCTCGTCCCACCTG	0.582													14	36					0	0	0	0	T	88653065	C	T	88653065	3	4	489	1	0	0	0	0	1	0	0	0	17663	884	31	1	667	1	ZC3H18	16	88653065	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3540473	88653065	1701688	539	94651											
SPG7	6687	broad.mit.edu	37	chr16	89590511	89590511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagcctcctgaatgctctCagcaccagcggaggcagcat	10	7	11	13	1	1	2	1	2	1	0	3	3	2	3	3	2	5	4	3	2	1	0	rs139742860	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:89590511C>T	ENST00000268704.2	+	4	489	c.474C>T	c.(472-474)ctC>ctT	p.L158L	SPG7_ENST00000341316.2_Silent_p.L158L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	158					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGAATGCTCTCAGCACCAGCG	0.632													27	57					0	0	0	0	T	89590511	C	T	89590511	2	4	489	1	0	0	0	0	0	0	0	1	15134	813	29	2		2	SPG7	16	89590511	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	937446	89590511	764242	540	94652											
NLRP1	22861	broad.mit.edu	37	chr17	5485350	5485350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcatggtctggggagcttgGaagagcttggtagaggagtg	8	10	18	5	0	2	2	1	0	1	2	2	5	2	5	0	6	2	3	0	6	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:5485350G>A	ENST00000345221.3	-	3	1035	c.481C>T	c.(481-483)Cca>Tca	p.P161S	NLRP1_ENST00000269280.4_Missense_Mutation_p.P161S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P161S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P161S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P161S|NLRP1_ENST00000572272.1_Missense_Mutation_p.P161S|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	161					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGGAGCTTGGAAGAGCTTGG	0.498													9	14					0	0	0	0	A	5485350	G	A	5485350	3	1	489	1	0	0	0	0	1	0	0	0	10541	1174	41	2	4075	2	NLRP1	17	5485350	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		5485350	75709860	541	94653											
PITPNM3	83394	broad.mit.edu	37	chr17	6371598	6371598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttctcccgggggttggcagGactcagtgctgcagggtcca	5	9	15	12	1	2	0	1	0	1	0	4	1	3	1	2	5	2	4	2	5	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:6371598G>A	ENST00000262483.8	-	14	1924	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.P577S	NM_031220.3	NP_112497.2																					GGGTTGGCAGGACTCAGTGCT	0.622													16	42					0	0	0	0	A	6371598	G	A	6371598	3	1	489	1	0	0	0	0	1	0	0	0	12024	1174	41	2	1115	2	PITPNM3	17	6371598	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	886248	6371598	74823612	542	94654											
POLR2A	5430	broad.mit.edu	37	chr17	7416662	7416662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttcccctagctactcGccaacgtctcccagctactc	7	9	4	21	2	1	0	0	0	1	0	5	0	2	0	5	0	5	2	5	0	4	4	rs137857356	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:7416662G>A	ENST00000322644.6	+	29	5478	c.5079G>A	c.(5077-5079)tcG>tcA	p.S1693S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1693	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II 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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ctagctactcgccaacgtctc	0.597													3	18					0	0	0	0	A	7416662	G	A	7416662	2	1	489	1	0	0	0	0	0	0	0	1	12286	1074	38	1		1	POLR2A	17	7416662	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1045064	7416662	73778548	543	94655											
SENP3	26168	broad.mit.edu	37	chr17	7474754	7474754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaggacatgcccaaacttCgtcggcagatctacaaggag	13	6	11	11	2	1	1	0	0	1	1	3	3	1	3	1	3	4	2	1	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:7474754C>T	ENST00000321337.7	+	12	1995	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C	SENP3_ENST00000429205.2_Missense_Mutation_p.R560C|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	560					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GCCCAAACTTCGTCGGCAGAT	0.552													21	52					0	0	0	0	T	7474754	C	T	7474754	3	4	489	1	0	0	0	0	1	0	0	0	14135	884	31	1	1717	1	SENP3	17	7474754	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	58092	7474754	73720456	544	94656											
SCO1	6341	broad.mit.edu	37	chr17	10590123	10590123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacttgatcgacctcttctCtcgtgccagtcaagccaacc	8	10	6	17	2	3	1	1	1	2	0	6	2	3	1	5	0	3	0	5	0	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:10590123C>G	ENST00000255390.5	-	5	752	c.692G>C	c.(691-693)aGa>aCa	p.R231T	SCO1_ENST00000577427.1_Missense_Mutation_p.R200T	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	231					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GACCTCTTCTCTCGTGCCAGT	0.423													33	87					0	0	0	0	G	10590123	C	G	10590123	3	3	489	1	0	0	0	0	1	0	0	0	14018	913	32	2	221	2	SCO1	17	10590123	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3115369	10590123	70605087	545	94657											
MAP2K4	6416	broad.mit.edu	37	chr17	12016649	12016649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactctattgccaagacaaGagatgctggctgtaggccat	11	9	12	9	0	1	2	0	0	1	2	1	4	1	3	2	3	2	3	2	3	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:12016649G>A	ENST00000415385.3	+	8	871	c.818G>A	c.(817-819)aGa>aAa	p.R273K	MAP2K4_ENST00000353533.5_Missense_Mutation_p.R262K			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	262	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like 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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GCCAAGACAAGAGATGCTGGC	0.463			"D, Mis, N"		"pancreatic, breast, colorectal"								25	51					0	0	0	0	A	12016649	G	A	12016649	3	1	489	1	0	0	0	0	1	0	0	0	9308	942	33	2	811	2	MAP2K4	17	12016649	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1426526	12016649	69178561	546	94658											
TRIM16	10626	broad.mit.edu	37	chr17	15554855	15554855	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgacccagagtctgggctGagaggggctgggggctgagc	6	6	21	8	0	1	4	0	3	1	2	1	5	1	4	1	6	1	3	1	6	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:15554855G>C	ENST00000455584.2	-	1	112	c.69C>G	c.(67-69)ctC>ctG	p.L23L	TRIM16_ENST00000578237.1_Silent_p.L23L|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000336708.7_Silent_p.L23L|TRIM16_ENST00000581224.1_Intron																							AGTCTGGGCTGAGAGGGGCTG	0.632													23	40					0	0	0	0	C	15554855	G	C	15554855	2	2	489	1	0	0	0	0	0	0	0	1	16586	1277	45	2		2	TRIM16	17	15554855	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3538206	15554855	65640355	547	94659											
ATAD5	79915	broad.mit.edu	37	chr17	29220658	29220658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattagcctgtcctctgtatCatcttcctcaaatgcagaag	10	14	6	11	0	4	1	2	0	2	1	6	1	6	1	3	0	2	2	3	0	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:29220658C>T	ENST00000321990.4	+	21	5165	c.4787C>T	c.(4786-4788)tCa>tTa	p.S1596L		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1596	Poly-Ser.				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTCTGTATCATCTTCCTCA	0.368													14	61					0	0	0	0	T	29220658	C	T	29220658	3	4	489	1	0	0	0	0	1	0	0	0	1080	838	29	2	4869	2	ATAD5	17	29220658	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	13665803	29220658	51974552	548	94660											
SLFN5	162394	broad.mit.edu	37	chr17	33585712	33585712	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccaagtgctgagaagatGagtcttaggattgatgtgga	12	10	15	4	0	1	4	0	3	1	2	1	7	1	6	1	3	1	1	1	3	3	2	rs140285201		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:33585712G>A	ENST00000299977.4	+	2	151	c.3G>A	c.(1-3)atG>atA	p.M1I	SLFN5_ENST00000542451.1_Start_Codon_SNP_p.M1I|SLFN5_ENST00000592325.1_Start_Codon_SNP_p.M1I	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	1					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CTGAGAAGATGAGTCTTAGGA	0.453													17	48					0	0	0	0	A	33585712	G	A	33585712	1	1	489	1	0	0	0	0	0	0	0	0	14825	1290	45	2		2	SLFN5	17	33585712	Translation_Start_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4365054	33585712	47609498	549	94661											
DUSP14	11072	broad.mit.edu	37	chr17	35872423	35872423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caaggactctcatggcccctCggatgatttccgagggagac	9	8	12	12	2	1	2	1	1	1	1	4	6	2	4	3	4	0	0	3	4	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:35872423C>G	ENST00000487847.1	+	2	1027	c.49C>G	c.(49-51)Cgg>Ggg	p.R17G	DUSP14_ENST00000394386.1_Missense_Mutation_p.R17G|DUSP14_ENST00000394389.4_Missense_Mutation_p.R17G			O95147	DUS14_HUMAN	dual specificity phosphatase 14	17							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CATGGCCCCTCGGATGATTTC	0.567													14	44					0	0	0	0	G	35872423	C	G	35872423	3	3	489	1	0	0	0	0	1	0	0	0	4850	875	31	3	51	3	DUSP14	17	35872423	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2286711	35872423	45322787	550	94662											
FBXL20	84961	broad.mit.edu	37	chr17	37431248	37431248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtgggcagttctgacctaGagcattcaggatggcatctg	8	10	13	10	1	3	2	1	1	2	1	3	3	3	3	2	3	1	4	2	3	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:37431248G>A	ENST00000264658.6	-	10	1062	c.802C>T	c.(802-804)Cta>Tta	p.L268L	FBXL20_ENST00000577399.1_Silent_p.L270L|FBXL20_ENST00000583610.1_Silent_p.L268L|FBXL20_ENST00000394294.3_Silent_p.L236L	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	268						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTCTGACCTAGAGCATTCAGG	0.423													24	88					0	0	0	0	A	37431248	G	A	37431248	2	1	489	1	0	0	0	0	0	0	0	1	5762	933	33	2		2	FBXL20	17	37431248	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1558825	37431248	43763962	551	94663											
MSL1	339287	broad.mit.edu	37	chr17	38289863	38289863	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtataaaaagaaaggaattCaggaatctgagcctgaggtt	16	10	11	4	0	2	3	1	2	1	1	2	5	2	5	1	3	1	2	1	3	7	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38289863C>T	ENST00000398532.3	+	7	1948	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	MSL1_ENST00000578648.1_Nonsense_Mutation_p.Q529*|MSL1_ENST00000579565.1_Nonsense_Mutation_p.Q282*			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	545					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAAAGGAATTCAGGAATCTGA	0.408													8	19					0	0	0	0	T	38289863	C	T	38289863	4	4	489	1	0	0	0	0	0	1	0	0	9947	827	29	2	866	2	MSL1	17	38289863	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	858615	38289863	42905347	552	94664											
TNS4	84951	broad.mit.edu	37	chr17	38636972	38636972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcagatttcttctggcagGaggctgggctgtctgtagag	6	11	15	9	1	3	2	0	0	3	2	3	3	3	3	1	4	0	5	1	4	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38636972G>T	ENST00000254051.6	-	9	1879	c.1721C>A	c.(1720-1722)tCc>tAc	p.S574Y		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	574	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTTCTGGCAGGAGGCTGGGCT	0.622													9	34					5.4927e-09	5.71371e-09	1	0	T	38636972	G	T	38636972	3	4	489	1	0	0	0	0	1	0	0	0	16439	1174	41	2	446	2	TNS4	17	38636972	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	347109	38636972	42558238	553	94665											
TNS4	84951	broad.mit.edu	37	chr17	38638442	38638442	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgatggaatgctggcacacGaaggcagagaggctccctga	12	6	14	9	1	0	3	0	2	0	1	1	6	1	4	1	4	1	4	1	4	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38638442G>A	ENST00000254051.6	-	8	1769	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	537	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTGGCACACGAAGGCAGAGA	0.622													6	32					0	0	0	0	A	38638442	G	A	38638442	2	1	489	1	0	0	0	0	0	0	0	1	16439	1049	37	1		1	TNS4	17	38638442	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1470	38638442	42556768	554	94666											
KRT23	25984	broad.mit.edu	37	chr17	39092585	39092585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggcctcctccagggcgcGaaccttctccaggtaggagg	6	8	14	13	2	1	0	0	0	1	0	4	2	3	1	5	5	1	2	5	5	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:39092585G>A	ENST00000209718.3	-	2	695	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	91	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCAGGGCGCGAACCTTCTCC	0.557													24	113					0	0	0	0	A	39092585	G	A	39092585	3	1	489	1	0	0	0	0	1	0	0	0	8512	1058	37	1	1029	1	KRT23	17	39092585	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	454143	39092585	42102625	555	94667											
ACLY	47	broad.mit.edu	37	chr17	40052893	40052893	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagggatcttggacttGggactgaatctgtcaaagaa	11	11	12	7	0	3	2	1	1	2	1	3	5	3	5	0	3	1	1	0	3	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40052893G>C	ENST00000352035.2	-	14	1569	c.1439C>G	c.(1438-1440)cCa>cGa	p.P480R	ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Intron|ACLY_ENST00000353196.1_Intron|ACLY_ENST00000590151.1_Missense_Mutation_p.P480R	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	480					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTTGGACTTGGGACTGAATC	0.567													20	64					0	0	0	0	C	40052893	G	C	40052893	3	2	489	1	0	0	0	0	1	0	0	0	143	1348	47	4	1930	4	ACLY	17	40052893	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	960308	40052893	41142317	556	94668											
RAB5C	5878	broad.mit.edu	37	chr17	40282382	40282382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgctctcctggtactcgtGaaactgtcccttgacaaagc	8	12	9	12	1	1	2	0	2	1	0	4	2	2	2	2	1	4	2	2	1	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40282382G>A	ENST00000393860.3	-	3	455	c.139C>T	c.(139-141)Cac>Tac	p.H47Y	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.H47Y|RAB5C_ENST00000346213.4_Missense_Mutation_p.H47Y|RAB5C_ENST00000547517.1_Missense_Mutation_p.H80Y	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	47					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGGTACTCGTGAAACTGTCCC	0.547													12	46					0	0	0	0	A	40282382	G	A	40282382	3	1	489	1	0	0	0	0	1	0	0	0	13032	1290	45	2	531	2	RAB5C	17	40282382	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	229489	40282382	40912828	557	94669											
BECN1	8678	broad.mit.edu	37	chr17	40970304	40970304	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgagattttctgccactatCttgcggttcttttccacgtc	5	17	7	12	3	3	1	0	0	3	1	6	2	4	1	2	1	2	1	2	1	1	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40970304C>G	ENST00000361523.4	-	7	750	c.618G>C	c.(616-618)aaG>aaC	p.K206N	BECN1_ENST00000438274.3_Missense_Mutation_p.K130N|BECN1_ENST00000590099.1_Missense_Mutation_p.K206N	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	206					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCCACTATCTTGCGGTTCT	0.517													44	119					0	0	0	0	G	40970304	C	G	40970304	3	3	489	1	0	0	0	0	1	0	0	0	1400	912	32	2	758	2	BECN1	17	40970304	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	687922	40970304	40224906	558	94670											
CDC27	996	broad.mit.edu	37	chr17	45198318	45198318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttaaaattcatcactttCagctgcatgaagttgtgtgt	12	15	8	6	0	3	1	3	1	0	0	3	1	3	1	0	0	2	4	0	0	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45198318C>T	ENST00000066544.3	-	19	2551	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	CDC27_ENST00000531206.1_Missense_Mutation_p.E826K|CDC27_ENST00000527547.1_Missense_Mutation_p.E819K|CDC27_ENST00000446365.2_Missense_Mutation_p.E759K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	820					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCATCACTTTCAGCTGCATGA	0.403													14	32					0	0	0	0	T	45198318	C	T	45198318	3	4	489	1	0	0	0	0	1	0	0	0	3095	835	29	2	20	2	CDC27	17	45198318	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4228014	45198318	35996892	559	94671											
OSBPL7	114881	broad.mit.edu	37	chr17	45886706	45886706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcacacacaccttgcaGaaggtgatcttgcagtggca	10	8	13	10	0	1	2	0	1	1	1	1	2	1	2	1	4	2	4	1	4	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45886706G>A	ENST00000007414.3	-	19	2210	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	OSBPL7_ENST00000392507.3_Silent_p.F673F	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	673					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACACCTTGCAGAAGGTGATCT	0.597													12	43					0	0	0	0	A	45886706	G	A	45886706	2	1	489	1	0	0	0	0	0	0	0	1	11353	933	33	2		2	OSBPL7	17	45886706	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	688388	45886706	35308504	560	94672											
SP2	6668	broad.mit.edu	37	chr17	46000473	46000473	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaccagcaaaaagcactCagctgcaattctccgaaaag	15	6	9	11	1	2	0	1	0	1	0	3	2	2	1	2	1	4	4	2	1	5	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:46000473C>G	ENST00000376741.4	+	4	1342	c.1205C>G	c.(1204-1206)tCa>tGa	p.S402*	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	402					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AAAAAGCACTCAGCTGCAATT	0.612													13	38					0	0	0	0	G	46000473	C	G	46000473	4	3	489	1	0	0	0	0	0	1	0	0	15052	838	29	2	1219	2	SP2	17	46000473	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	113767	46000473	35194737	561	94673											
HOXB6	3216	broad.mit.edu	37	chr17	46674031	46674031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccgctgggcccaaaggagGaacctgttacgcagagtgga	10	5	16	10	2	0	1	0	0	0	1	0	4	0	4	3	5	2	3	3	5	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:46674031G>A	ENST00000484302.2	-	3	1041	c.419C>T	c.(418-420)tCc>tTc	p.S140F	HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.S140F|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000429755.4_RNA			P17509	HXB6_HUMAN	homeobox B6	140					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCCAAAGGAGGAACCTGTTAC	0.637													19	68					0	0	0	0	A	46674031	G	A	46674031	3	1	489	1	0	0	0	0	1	0	0	0	7355	1174	41	2	259	2	HOXB6	17	46674031	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	673558	46674031	34521179	562	94674											
SPATA20	64847	broad.mit.edu	37	chr17	48627670	48627670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggcctattcgcaggccttCcaggtgacccctgaccccag	6	8	11	16	1	0	2	0	2	0	0	2	2	1	2	7	3	0	1	7	3	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:48627670C>G	ENST00000006658.6	+	9	1215	c.1095C>G	c.(1093-1095)ttC>ttG	p.F365L	SPATA20_ENST00000393244.3_Missense_Mutation_p.F305L|SPATA20_ENST00000356488.4_Missense_Mutation_p.F349L|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	349					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGCAGGCCTTCCAGGTGACCC	0.592											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	40					0	0	0	0	G	48627670	C	G	48627670	3	3	489	1	0	0	0	0	1	0	0	0	15096	854	30	2	1129	2	SPATA20	17	48627670	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1953639	48627670	32567540	563	94675											
SPATA20	64847	broad.mit.edu	37	chr17	48628248	48628248	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatgaagcactacggcctCacagaggctggtaacatcag	12	7	10	12	1	3	2	3	1	0	1	3	2	3	2	1	3	3	3	1	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:48628248C>G	ENST00000006658.6	+	11	1473	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L	SPATA20_ENST00000393244.3_Silent_p.L391L|SPATA20_ENST00000356488.4_Silent_p.L435L|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	435					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACTACGGCCTCACAGAGGCTG	0.632											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	81					0	0	0	0	G	48628248	C	G	48628248	2	3	489	1	0	0	0	0	0	0	0	1	15096	813	29	2		2	SPATA20	17	48628248	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	578	48628248	32566962	564	94676											
ANKFN1	162282	broad.mit.edu	37	chr17	54526483	54526483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcccagacacaagggacaGagtgaagttttggaaggtct	13	7	14	7	0	1	3	0	1	1	2	1	6	1	5	1	3	1	1	1	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:54526483G>C	ENST00000566473.2	+	10	1152	c.1152G>C	c.(1150-1152)caG>caC	p.Q384H	ANKFN1_ENST00000318698.2_Missense_Mutation_p.Q384H			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	384										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACAAGGGACAGAGTGAAGTTT	0.463													10	65					0	0	0	0	C	54526483	G	C	54526483	3	2	489	1	0	0	0	0	1	0	0	0	625	933	33	2	1190	2	ANKFN1	17	54526483	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5898235	54526483	26668727	565	94677											
HEATR6	63897	broad.mit.edu	37	chr17	58121317	58121317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatggtgtcttcactcttCtgtaaagcggtgaccaatgc	8	14	9	10	1	5	1	1	1	4	0	5	1	5	1	1	2	2	1	1	2	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:58121317C>A	ENST00000184956.6	-	20	3169	c.3153G>T	c.(3151-3153)caG>caT	p.Q1051H	HEATR6_ENST00000585976.1_Missense_Mutation_p.Q939H	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1051							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTTCACTCTTCTGTAAAGCGG	0.517													43	138					1.57945e-13	1.67877e-13	1	0	A	58121317	C	A	58121317	3	1	489	1	0	0	0	0	1	0	0	0	7083	912	32	2	396	2	HEATR6	17	58121317	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3594834	58121317	23073893	566	94678											
METTL2A	339175	broad.mit.edu	37	chr17	60525120	60525120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaccagagtttacttcttCacacaaggtatgaaacaccc	14	9	7	11	0	2	2	1	1	1	1	2	3	2	3	2	2	3	2	2	2	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:60525120C>T	ENST00000311506.5	+	8	1011	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	325							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TTTACTTCTTCACACAAGGTA	0.423													55	211					0	0	0	0	T	60525120	C	T	60525120	2	4	489	1	0	0	0	0	0	0	0	1	9568	825	29	2		2	METTL2A	17	60525120	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2403803	60525120	20670090	567	94679											
WIPI1	55062	broad.mit.edu	37	chr17	66429704	66429704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactgaacactagagagctGattgtcacatacctacaagc	15	9	7	10	0	1	3	1	2	0	1	1	4	1	3	1	0	6	1	1	0	6	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:66429704G>A	ENST00000262139.5	-	8	704	c.705C>T	c.(703-705)atC>atT	p.I235I	WIPI1_ENST00000546360.1_Silent_p.I153I|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	235					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CTAGAGAGCTGATTGTCACAT	0.453													11	48					0	0	0	0	A	66429704	G	A	66429704	2	1	489	1	0	0	0	0	0	0	0	1	17466	1280	45	2		2	WIPI1	17	66429704	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5904584	66429704	14765506	568	94680											
MRPS7	51081	broad.mit.edu	37	chr17	73258704	73258704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgttcgggagctcaagaaGactcagctcatcaaagctgc	12	9	10	10	1	4	2	4	0	0	2	5	3	4	3	0	1	4	4	0	1	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:73258704G>A	ENST00000579761.1	+	2	437	c.210G>A	c.(208-210)aaG>aaA	p.K70K	MRPS7_ENST00000579002.1_Silent_p.K99K|MRPS7_ENST00000245539.6_Silent_p.K70K			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	70					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGCTCAAGAAGACTCAGCTCA	0.448													54	177					0	0	0	0	A	73258704	G	A	73258704	2	1	489	1	0	0	0	0	0	0	0	1	9918	933	33	2		2	MRPS7	17	73258704	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6829000	73258704	7936506	569	94681											
UNC13D	201294	broad.mit.edu	37	chr17	73831952	73831952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagccactgcagctccCggaaagccatggagaagagg	12	4	12	13	1	1	2	1	0	0	2	2	4	2	3	4	3	4	2	4	3	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:73831952C>T	ENST00000207549.4	-	18	1959	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	UNC13D_ENST00000412096.2_Missense_Mutation_p.R527Q	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	527	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCAGCTCCCGGAAAGCCAT	0.622									Familial Hemophagocytic Lymphohistiocytosis				29	124					0	0	0	0	T	73831952	C	T	73831952	3	4	489	1	0	0	0	0	1	0	0	0	17083	652	23	1	1752	1	UNC13D	17	73831952	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	573248	73831952	7363258	570	94682											
CYGB	114757	broad.mit.edu	37	chr17	74527688	74527688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgtgcttccgcagctGggggctccgctccatctcca	4	8	13	16	3	1	0	0	0	1	0	5	0	4	0	4	3	2	6	4	3	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:74527688G>A	ENST00000293230.5	-	2	591	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	CYGB_ENST00000589342.1_Nonsense_Mutation_p.Q77*|CYGB_ENST00000589145.1_Nonsense_Mutation_p.Q12*|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000590175.1_Nonsense_Mutation_p.Q12*	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	77	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TTCCGCAGCTGGGGGCTCCGC	0.607													7	54					0	0	0	0	A	74527688	G	A	74527688	4	1	489	1	0	0	0	0	0	1	0	0	4171	1357	47	4	355	4	CYGB	17	74527688	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	695736	74527688	6667522	571	94683											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625778	74625778	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagacctttctttaatgttCtctgtgcgttgatgcctagg	7	16	10	8	1	2	2	0	1	2	1	3	3	2	2	2	1	2	2	2	1	2	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:74625778C>T	ENST00000156626.7	-	2	346	c.147G>A	c.(145-147)gaG>gaA	p.E49E	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	49					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTTTAATGTTCTCTGTGCGTT	0.448													24	91					0	0	0	0	T	74625778	C	T	74625778	2	4	489	1	0	0	0	0	0	0	0	1	15313	912	32	2		2	ST6GALNAC1	17	74625778	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	98090	74625778	6569432	572	94684											
TNRC6C	57690	broad.mit.edu	37	chr17	76060974	76060974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagccgccggtggcatttgGaagagctggcgcacctgttg	7	8	16	10	3	0	2	0	0	0	2	0	3	0	3	3	4	2	4	3	4	1	2	rs62078559		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:76060974G>A	ENST00000335749.4	+	4	3127	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E	TNRC6C_ENST00000541771.1_Missense_Mutation_p.G856E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G853E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G856E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G856E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G853E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	856	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTGGCATTTGGAAGAGCTGGC	0.582													5	26					0	0	0	0	A	76060974	G	A	76060974	3	1	489	1	0	0	0	0	1	0	0	0	16436	1174	41	2	2573	2	TNRC6C	17	76060974	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1435196	76060974	5134236	573	94685											
CBX8	57332	broad.mit.edu	37	chr17	77768657	77768657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggtacaggccccccccaGagctgggggggcctgagcca	6	3	15	17	1	0	2	0	1	0	1	0	2	0	2	7	5	3	2	7	5	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:77768657G>C	ENST00000269385.4	-	5	1064	c.947C>G	c.(946-948)tCt>tGt	p.S316C		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	316					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCCCCCAGAGCTGGGGGG	0.682													10	19					0	0	0	0	C	77768657	G	C	77768657	3	2	489	1	0	0	0	0	1	0	0	0	2749	929	33	2	201	2	CBX8	17	77768657	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1707683	77768657	3426553	574	94686											
ZNF750	79755	broad.mit.edu	37	chr17	80790247	80790247	+	Missense_Mutation	SNP	G	G	C																															ttgcaagtaaagggacattgGaaacatttatacttgaaggg																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:80790247G>C	ENST00000269394.3	-	2	917	c.84C>G	c.(82-84)ttC>ttG	p.F28L	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	28						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGGACATTGGAAACATTTAT	0.408													47	45					0	0	0	0	C	80790247	G	C	80790247	3	2	489	1	0	0	0	0	1	0	0	0	18226	1165	41	2	2095	2	ZNF750	17	80790247	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3021590	80790247	404963	575	94687	1129	2									
ZNF750	79755	broad.mit.edu	37	chr17	80790248	80790248	+	Missense_Mutation	SNP	A	A	T																															tgcaagtaaagggacattggAaacatttatacttgaagggc																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:80790248A>T	ENST00000269394.3	-	2	916	c.83T>A	c.(82-84)tTc>tAc	p.F28Y	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	28						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGACATTGGAAACATTTATA	0.408													47	45					0	0	0	0	T	80790248	A	T	80790248	3	4	489	1	0	0	0	0	1	0	0	0	18226	246	9	5	2096	5	ZNF750	17	80790248	Missense_Mutation	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	1	80790248	404962	576	94688	1129	2									
RALBP1	10928	broad.mit.edu	37	chr18	9522465	9522465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaactggaaacaaaaatGaatatacagaacatttctat	21	9	6	5	0	1	2	0	1	1	1	1	4	1	4	0	2	4	0	0	2	10	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:9522465G>C	ENST00000019317.4	+	4	1234	c.1011G>C	c.(1009-1011)atG>atC	p.M337I	RALBP1_ENST00000383432.3_Missense_Mutation_p.M337I			Q15311	RBP1_HUMAN	ralA binding protein 1	337	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AAACAAAAATGAATATACAGA	0.418													23	61					0	0	0	0	C	9522465	G	C	9522465	3	2	489	1	0	0	0	0	1	0	0	0	13094	1290	45	2	1021	2	RALBP1	18	9522465	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		9522465	68554783	577	94689											
CEP192	55125	broad.mit.edu	37	chr18	13068894	13068894	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcggcaaaagttgatatCgaagttgacagcccaaaccc	13	9	8	11	2	1	2	0	2	1	0	3	3	1	2	2	1	2	3	2	1	5	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:13068894C>T	ENST00000506447.1	+	25	4946	c.4866C>T	c.(4864-4866)atC>atT	p.I1622I	CEP192_ENST00000325971.8_Silent_p.I1026I|CEP192_ENST00000430049.2_Silent_p.I1147I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1217										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGTTGATATCGAAGTTGACA	0.433													38	115					0	0	0	0	T	13068894	C	T	13068894	2	4	489	1	0	0	0	0	0	0	0	1	3280	874	31	1		1	CEP192	18	13068894	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3546429	13068894	65008354	578	94690											
CTAGE1	64693	broad.mit.edu	37	chr18	19996130	19996130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggatcagttaacctatCacagcttgattctcctcttt	9	15	7	10	0	4	2	2	2	2	0	5	3	4	3	2	1	2	2	2	1	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:19996130C>T	ENST00000391403.2	-	1	1748	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	549						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GTTAACCTATCACAGCTTGAT	0.547													33	97					0	0	0	0	T	19996130	C	T	19996130	3	4	489	1	0	0	0	0	1	0	0	0	4024	826	29	2	596	2	CTAGE1	18	19996130	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6927236	19996130	58081118	579	94691											
CTAGE1	64693	broad.mit.edu	37	chr18	19997264	19997264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctatctccaaccgttcttCattcgcttgaaatctcttga	8	17	4	12	2	5	2	1	2	4	0	8	2	5	2	2	0	1	2	2	0	3	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:19997264C>T	ENST00000391403.2	-	1	614	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	171						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AACCGTTCTTCATTCGCTTGA	0.388													48	167					0	0	0	0	T	19997264	C	T	19997264	3	4	489	1	0	0	0	0	1	0	0	0	4024	835	29	2	1730	2	CTAGE1	18	19997264	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1134	19997264	58079984	580	94692											
RBBP8	5932	broad.mit.edu	37	chr18	20581637	20581637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgtttggcagacagtttCtcccaagcagcagatgaaga	11	10	10	10	0	1	4	0	1	1	3	3	4	2	4	2	1	2	5	2	1	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:20581637C>T	ENST00000399722.2	+	15	2583	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F	RBBP8_ENST00000360790.5_Silent_p.F749F|RBBP8_ENST00000399725.2_Silent_p.F744F|RBBP8_ENST00000327155.5_Silent_p.F744F	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	744					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGACAGTTTCTCCCAAGCAG	0.363								Homologous recombination					29	116					0	0	0	0	T	20581637	C	T	20581637	2	4	489	1	0	0	0	0	0	0	0	1	13187	912	32	2		2	RBBP8	18	20581637	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	584373	20581637	57495611	581	94693											
DSG2	1829	broad.mit.edu	37	chr18	29116340	29116340	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccctttcagtttctccgtCattgacaaaccacctggcat	8	12	7	14	1	3	1	2	1	1	0	4	1	3	1	4	2	1	2	4	2	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:29116340C>G	ENST00000261590.8	+	11	1808	c.1599C>G	c.(1597-1599)gtC>gtG	p.V533V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	533					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTTTCTCCGTCATTGACAAAC	0.433													13	34					0	0	0	0	G	29116340	C	G	29116340	2	3	489	1	0	0	0	0	0	0	0	1	4813	813	29	2		2	DSG2	18	29116340	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8534703	29116340	48960908	582	94694											
ZNF396	252884	broad.mit.edu	37	chr18	32953515	32953515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaattcctcagtgatttctGaaggtgctagcttctctgca	8	14	9	10	0	3	2	1	2	2	0	5	2	4	2	1	1	3	4	1	1	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:32953515G>A	ENST00000306346.1	-	3	598	c.467C>T	c.(466-468)tCa>tTa	p.S156L	ZNF396_ENST00000586687.1_Missense_Mutation_p.S156L|ZNF396_ENST00000589332.1_Missense_Mutation_p.S156L	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	156					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGTGATTTCTGAAGGTGCTAG	0.473													24	57					0	0	0	0	A	32953515	G	A	32953515	3	1	489	1	0	0	0	0	1	0	0	0	17977	1294	45	2	546	2	ZNF396	18	32953515	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3837175	32953515	45123733	583	94695											
RPRD1A	55197	broad.mit.edu	37	chr18	33573241	33573241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgcgcaccagggaaactCtggctagcttgcgcttgtac	7	11	11	12	2	1	0	0	0	1	0	1	1	1	1	1	2	5	5	1	2	3	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33573241C>T	ENST00000399022.4	-	7	983	c.812G>A	c.(811-813)aGa>aAa	p.R271K	RPRD1A_ENST00000337059.5_Missense_Mutation_p.R235K|RPRD1A_ENST00000590898.1_Missense_Mutation_p.R235K|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R271K|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R235K	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	271										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CAGGGAAACTCTGGCTAGCTT	0.483													13	63					0	0	0	0	T	33573241	C	T	33573241	3	4	489	1	0	0	0	0	1	0	0	0	13700	913	32	2	130	2	RPRD1A	18	33573241	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	619726	33573241	44504007	584	94696											
SLC39A6	25800	broad.mit.edu	37	chr18	33706814	33706814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtagatgatattgccGtgtggaaattgccaagtcaa	11	13	11	6	1	1	2	1	1	0	1	1	3	1	3	2	1	2	2	2	1	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33706814G>A	ENST00000269187.5	-	2	370	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	SLC39A6_ENST00000590986.1_Missense_Mutation_p.R53W|SLC39A6_ENST00000440549.2_Intron	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	53						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TGATATTGCCGTGTGGAAATT	0.388													15	210					0	0	0	0	A	33706814	G	A	33706814	3	1	489	1	0	0	0	0	1	0	0	0	14710	1144	40	1	2158	1	SLC39A6	18	33706814	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	133573	33706814	44370434	585	94697											
ELP2	55250	broad.mit.edu	37	chr18	33739932	33739932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattctagagcctcccactGaggatcatcttctgcagaat	10	13	7	11	0	4	3	1	1	3	2	5	4	5	4	2	1	2	1	2	1	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33739932G>A	ENST00000358232.6	+	16	1705	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	ELP2_ENST00000351393.6_Missense_Mutation_p.E522K|ELP2_ENST00000442325.2_Missense_Mutation_p.E613K|ELP2_ENST00000423854.2_Missense_Mutation_p.E478K|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Missense_Mutation_p.E543K|ELP2_ENST00000542824.1_Missense_Mutation_p.E478K	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	548					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GCCTCCCACTGAGGATCATCT	0.353													16	111					0	0	0	0	A	33739932	G	A	33739932	3	1	489	1	0	0	0	0	1	0	0	0	5118	1291	45	2	1704	2	ELP2	18	33739932	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	33118	33739932	44337316	586	94698											
NETO1	81832	broad.mit.edu	37	chr18	70417497	70417497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagaagcatctcttgtgctGaggttactgcggctgccttt	7	14	11	9	1	1	2	0	1	1	1	2	2	1	2	1	2	5	4	1	2	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:70417497G>A	ENST00000327305.6	-	9	1998	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	NETO1_ENST00000299430.2_Silent_p.L446L|NETO1_ENST00000583169.1_Silent_p.L447L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	447					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCTTGTGCTGAGGTTACTGC	0.463													38	63					0	0	0	0	A	70417497	G	A	70417497	2	1	489	1	0	0	0	0	0	0	0	1	10409	1277	45	2		2	NETO1	18	70417497	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	36677565	70417497	7659751	587	94699											
CNDP1	84735	broad.mit.edu	37	chr18	72250822	72250822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaacagaaccagatatgatCcgggatggatccaccattcc	13	7	10	11	1	0	3	0	1	0	2	3	6	3	6	5	3	2	0	5	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:72250822C>G	ENST00000582365.1	+	10	1272	c.1206C>G	c.(1204-1206)atC>atG	p.I402M	CNDP1_ENST00000358821.3_Missense_Mutation_p.I445M			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	445					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CAGATATGATCCGGGATGGAT	0.488													23	118					0	0	0	0	G	72250822	C	G	72250822	3	3	489	1	0	0	0	0	1	0	0	0	3623	845	30	2	1377	2	CNDP1	18	72250822	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1833325	72250822	5826426	588	94700											
MBD3	53615	broad.mit.edu	37	chr19	1582649	1582649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttggggaggtccatggtCttgaccagctcctcagcaat	7	10	11	13	0	2	1	1	1	1	0	4	2	4	2	4	4	2	2	4	4	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1582649C>T	ENST00000590550.2	-	3	676	c.303G>A	c.(301-303)aaG>aaA	p.K101K	MBD3_ENST00000592012.1_Silent_p.K125K|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000434436.3_Silent_p.K157K|MBD3_ENST00000156825.1_Silent_p.K157K			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	157					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCATGGTCTTGACCAGCT	0.632													6	28					0	0	0	0	T	1582649	C	T	1582649	2	4	489	1	0	0	0	0	0	0	0	1	9413	912	32	2		2	MBD3	19	1582649	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		1582649	57546334	589	94701											
MBD3	53615	broad.mit.edu	37	chr19	1585201	1585201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcttgctgcggaacttCttcccgctcgggctgcgggg	2	10	16	13	5	1	0	0	0	1	0	3	1	2	1	1	5	5	4	1	5	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1585201C>A	ENST00000156825.1	-	2	144	c.123G>T	c.(121-123)aaG>aaT	p.K41N	MBD3_ENST00000592012.1_Missense_Mutation_p.K9N|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_5'UTR|MBD3_ENST00000434436.3_Missense_Mutation_p.K41N	NM_003926.5	NP_003917.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	41	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGAACTTCTTCCCGCTCG	0.697													3	6					1	1	1	0	A	1585201	C	A	1585201	3	1	489	1	0	0	0	0	1	0	0	0	9413	912	32	2	772	2	MBD3	19	1585201	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2552	1585201	57543782	590	94702											
BTBD2	55643	broad.mit.edu	37	chr19	1990034	1990034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctcgatggtcatgagcggGaagcgaatgaggcccagggc	9	6	16	10	3	1	2	1	2	0	0	3	5	2	3	2	4	2	0	2	4	2	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1990034G>A	ENST00000255608.4	-	5	973	c.957C>T	c.(955-957)ttC>ttT	p.F319F	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	319						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		TCATGAGCGGGAAGCGAATGA	0.642													7	58					0	0	0	0	A	1990034	G	A	1990034	2	1	489	1	0	0	0	0	0	0	0	1	1552	1165	41	2		2	BTBD2	19	1990034	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	404833	1990034	57138949	591	94703											
SPPL2B	56928	broad.mit.edu	37	chr19	2340962	2340962	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtatgctgctcctggcgctCttctgcgtggccgtcagcgt	2	12	13	14	5	3	0	1	0	2	0	4	0	4	0	2	2	4	4	2	2	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:2340962C>G	ENST00000452401.2	+	0	983				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		TCCTGGCGCTCTTCTGCGTGG	0.697													13	40					0	0	0	0	G	2340962	C	G	2340962	1	3	489	0	1	0	0	0	0	0	0	0	15179	900	32	2		2	SPPL2B	19	2340962	RNA	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	350928	2340962	56788021	592	94704											
LMNB2	84823	broad.mit.edu	37	chr19	2438403	2438403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccgcagctcagccacGtcactctccaggccgcgctt	5	7	11	18	4	3	0	2	0	1	0	4	0	3	0	4	2	2	3	4	2	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:2438403G>A	ENST00000325327.3	-	3	590	c.528C>T	c.(526-528)gaC>gaT	p.D176D	LMNB2_ENST00000582871.1_Silent_p.D156D			Q03252	LMNB2_HUMAN	lamin B2	156	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		GCTCAGCCACGTCACTCTCCA	0.667													5	34					0	0	0	0	A	2438403	G	A	2438403	2	1	489	1	0	0	0	0	0	0	0	1	8905	1136	40	1		1	LMNB2	19	2438403	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	97441	2438403	56690580	593	94705											
GNA15	2769	broad.mit.edu	37	chr19	3151812	3151812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcaacgagtactgcttctCcgtgcagaaaaccaacctgc	12	8	7	14	2	2	1	1	0	1	1	3	2	2	1	3	0	7	3	3	0	5	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:3151812C>T	ENST00000262958.3	+	4	851	c.593C>T	c.(592-594)tCc>tTc	p.S198F	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	198					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TACTGCTTCTCCGTGCAGAAA	0.647													17	94					0	0	0	0	T	3151812	C	T	3151812	3	4	489	1	0	0	0	0	1	0	0	0	6554	855	30	2	607	2	GNA15	19	3151812	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	713409	3151812	55977171	594	94706											
S1PR4	8698	broad.mit.edu	37	chr19	3179392	3179392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagccttctgcccctctactCcaagcgctacatcctcttct	6	12	4	19	1	4	0	0	0	4	0	6	0	6	0	5	0	5	1	5	0	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:3179392C>G	ENST00000246115.3	+	1	657	c.602C>G	c.(601-603)tCc>tGc	p.S201C	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	201					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCCTCTACTCCAAGCGCTAC	0.657													44	270					0	0	0	0	G	3179392	C	G	3179392	3	3	489	1	0	0	0	0	1	0	0	0	13881	855	30	2	604	2	S1PR4	19	3179392	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	27580	3179392	55949591	595	94707											
ACSBG2	81616	broad.mit.edu	37	chr19	6185518	6185518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcattggggagatctGcctctggggtaggcacatct	7	10	16	8	0	3	1	0	0	3	1	3	3	3	2	1	7	1	3	1	7	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:6185518G>C	ENST00000588304.1	+	11	1690	c.1244G>C	c.(1243-1245)tGc>tCc	p.C415S	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Missense_Mutation_p.C465S|ACSBG2_ENST00000591403.1_Missense_Mutation_p.C465S|ACSBG2_ENST00000588485.1_Missense_Mutation_p.C278S|ACSBG2_ENST00000252669.5_Missense_Mutation_p.C465S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	465					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGATCTGCCTCTGGGGT	0.527													49	216					0	0	0	0	C	6185518	G	C	6185518	3	2	489	1	0	0	0	0	1	0	0	0	174	1319	46	4	1432	4	ACSBG2	19	6185518	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3006126	6185518	52943465	596	94708											
GPR108	56927	broad.mit.edu	37	chr19	6735686	6735686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaactgctactgtttttCtggagagggcagtcctggaa	10	11	13	7	0	1	1	0	0	1	1	2	4	2	3	1	4	3	3	1	4	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:6735686C>A	ENST00000264080.7	-	4	347	c.321G>T	c.(319-321)caG>caT	p.Q107H	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	107						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TACTGTTTTTCTGGAGAGGGC	0.592											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	86					7.93312e-07	8.17493e-07	1	0	A	6735686	C	A	6735686	3	1	489	1	0	0	0	0	1	0	0	0	6673	912	32	2	1370	2	GPR108	19	6735686	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	550168	6735686	52393297	597	94709											
INSR	3643	broad.mit.edu	37	chr19	7267738	7267738	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgagcccatagacccggaaGagcagcaagtaatcagtgat	14	6	11	10	2	1	3	1	1	0	2	2	5	1	4	2	1	3	3	2	1	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:7267738G>A	ENST00000341500.5	-	2	309	c.270C>T	c.(268-270)ctC>ctT	p.L90L	INSR_ENST00000302850.5_Silent_p.L90L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	90					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGACCCGGAAGAGCAGCAAGT	0.512													13	87					0	0	0	0	A	7267738	G	A	7267738	2	1	489	1	0	0	0	0	0	0	0	1	7826	929	33	2		2	INSR	19	7267738	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	532052	7267738	51861245	598	94710											
FBN3	84467	broad.mit.edu	37	chr19	8203089	8203089	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagccatgggggttgagTcgcgctggcccaagaggggg	7	6	19	9	2	1	3	1	1	0	2	2	3	1	3	2	5	1	2	2	5	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:8203089T>A	ENST00000600128.1	-	10	1551	c.1137A>T	c.(1135-1137)cgA>cgT	p.R379R	FBN3_ENST00000601739.1_Silent_p.R379R|FBN3_ENST00000270509.2_Silent_p.R379R			Q75N90	FBN3_HUMAN	fibrillin 3	379						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGGTTGAGTCGCGCTGGCC	0.662													7	23					0	0	0	0	A	8203089	T	A	8203089	2	1	489	1	0	0	0	0	0	0	0	1	5749	1654	58	5		5	FBN3	19	8203089	Silent	SNP	T	TCGA-TN-A7HL-01A-11D-A34J-08	935351	8203089	50925894	599	94711											
PRAM1	84106	broad.mit.edu	37	chr19	8564664	8564664	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccggaagtcctgatggctctCctaggagacgcagagccaat	10	7	12	12	2	1	3	0	1	1	2	3	5	2	4	4	3	1	2	4	3	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:8564664C>G	ENST00000423345.4	-	2	548	c.27_splice	c.e2-1	p.E10_splice	PRAM1_ENST00000255612.3_Splice_Site_p.E10_splice			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	10							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TGATGGCTCTCCTAGGAGACG	0.597													4	17					0	0	0	0	G	8564664	C	G	8564664	5	3	489	1	0	0	0	0	0	0	1	0	12499	869	30	2	2017	2	PRAM1	19	8564664	Splice_Site	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	361575	8564664	50564319	600	94712											
MUC16	94025	broad.mit.edu	37	chr19	9071607	9071607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagggaagggtactgtgcGatgcagactcaggaggactt	11	7	15	8	1	1	1	1	0	0	1	1	5	1	4	1	4	3	2	1	4	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:9071607G>A	ENST00000397910.4	-	3	16042	c.15839C>T	c.(15838-15840)tCg>tTg	p.S5280L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5282	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTACTGTGCGATGCAGACTC	0.512													44	48					0	0	0	0	A	9071607	G	A	9071607	3	1	489	1	0	0	0	0	1	0	0	0	10043	1059	37	1	28012	1	MUC16	19	9071607	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	506943	9071607	50057376	601	94713											
MUC16	94025	broad.mit.edu	37	chr19	9086117	9086117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagacacttcactcttctCtgtgtaagtcatggaagtgt	11	13	9	8	0	4	2	2	0	2	2	5	3	4	3	0	1	0	1	0	1	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:9086117C>T	ENST00000397910.4	-	1	5901	c.5698G>A	c.(5698-5700)Gag>Aag	p.E1900K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1900	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTCTTCTCTGTGTAAGTC	0.498													17	46					0	0	0	0	T	9086117	C	T	9086117	3	4	489	1	0	0	0	0	1	0	0	0	10043	922	32	2	38161	2	MUC16	19	9086117	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	14510	9086117	50042866	602	94714											
SMARCA4	6597	broad.mit.edu	37	chr19	11144825	11144825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgaggtgcccgacgacgaGaccgtcaaccagatgatcgc	11	4	13	13	6	1	3	1	1	0	2	2	8	1	3	3	1	2	0	3	1	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:11144825G>C	ENST00000358026.2	+	28	4184	c.3900G>C	c.(3898-3900)gaG>gaC	p.E1300D	SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1267D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1267D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1300D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1300D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1267D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1300					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGACGAGACCGTCAACC	0.632			"F, N, Mis"		NSCLC								25	79					0	0	0	0	C	11144825	G	C	11144825	3	2	489	1	0	0	0	0	1	0	0	0	14858	933	33	2	4006	2	SMARCA4	19	11144825	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2058708	11144825	47984158	603	94715											
SMARCA4	6597	broad.mit.edu	37	chr19	11144856	11144856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatgatcgcccggcacgagGaggagtttgatctgttcatg	9	10	14	8	3	2	3	1	2	1	1	3	6	2	5	1	3	0	3	1	3	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:11144856G>A	ENST00000358026.2	+	28	4215	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1278K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1278K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1311K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1311K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1278K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1311					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCACGAGGAGGAGTTTGA	0.602			"F, N, Mis"		NSCLC								18	70					0	0	0	0	A	11144856	G	A	11144856	3	1	489	1	0	0	0	0	1	0	0	0	14858	1175	41	2	4037	2	SMARCA4	19	11144856	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	31	11144856	47984127	604	94716											
ZNF20	7568	broad.mit.edu	37	chr19	12244368	12244368	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatggataagacataaattGagaaaatagaaggctttccc	17	10	8	6	0	1	3	1	1	0	3	2	5	2	4	1	2	0	1	1	2	7	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12244368G>C	ENST00000334213.5	-	4	857	c.633C>G	c.(631-633)ctC>ctG	p.L211L	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GACATAAATTGAGAAAATAGA	0.388													57	256					0	0	0	0	C	12244368	G	C	12244368	2	2	489	1	0	0	0	0	0	0	0	1	17856	1277	45	2		2	ZNF20	19	12244368	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1099512	12244368	46884615	605	94717											
ZNF709	163051	broad.mit.edu	37	chr19	12575067	12575067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacactcataaggtttctCtccagtgtgagtcctttcat	8	17	6	10	0	3	1	2	1	1	0	6	1	5	1	2	1	1	1	2	1	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12575067C>T	ENST00000397732.3	-	4	1840	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E557K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TAAGGTTTCTCTCCAGTGTGA	0.428													47	254					0	0	0	0	T	12575067	C	T	12575067	3	4	489	1	0	0	0	0	1	0	0	0	18208	922	32	2	260	2	ZNF709	19	12575067	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	330699	12575067	46553916	606	94718											
ZNF709	163051	broad.mit.edu	37	chr19	12575149	12575149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttacattcatagggtttCtccccagtgtgagtcctttc	6	17	8	10	0	2	1	1	1	1	0	5	1	3	1	3	1	1	2	3	1	2	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12575149C>T	ENST00000397732.3	-	4	1758	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.E529E	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATAGGGTTTCTCCCCAGTGT	0.428													56	257					0	0	0	0	T	12575149	C	T	12575149	2	4	489	1	0	0	0	0	0	0	0	1	18208	912	32	2		2	ZNF709	19	12575149	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	82	12575149	46553834	607	94719											
MAST1	22983	broad.mit.edu	37	chr19	12984814	12984814	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcggacaagaagggcgcGctgcgcaaacacagcctcga	12	3	14	12	5	0	1	0	0	0	1	1	3	0	2	1	2	4	2	1	2	3	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12984814G>C	ENST00000251472.4	+	26	3882	c.3843G>C	c.(3841-3843)gcG>gcC	p.A1281A		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1281					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAAGGGCGCGCTGCGCAAAC	0.677													6	7					0	0	0	0	C	12984814	G	C	12984814	2	2	489	1	0	0	0	0	0	0	0	1	9393	1074	38	3		3	MAST1	19	12984814	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	409665	12984814	46144169	608	94720											
GIPC1	10755	broad.mit.edu	37	chr19	14591135	14591135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgaaggccttgcgaggctCcgtgagcttcagcgtgaagg	8	7	15	11	4	1	2	1	2	0	0	2	4	2	2	3	3	3	2	3	3	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:14591135C>T	ENST00000393033.4	-	6	906	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GIPC1_ENST00000586027.1_Missense_Mutation_p.E213K|GIPC1_ENST00000591349.1_Missense_Mutation_p.E116K|GIPC1_ENST00000393029.3_Missense_Mutation_p.E116K|GIPC1_ENST00000345425.2_Missense_Mutation_p.E213K|GIPC1_ENST00000393028.1_Missense_Mutation_p.E116K	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	213	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGCGAGGCTCCGTGAGCTTC	0.716											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	35					0	0	0	0	T	14591135	C	T	14591135	3	4	489	1	0	0	0	0	1	0	0	0	6443	864	30	2	380	2	GIPC1	19	14591135	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1606321	14591135	44537848	609	94721											
C19orf44	84167	broad.mit.edu	37	chr19	16613927	16613927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgtggaactctccagcGcaaagccttctcagacatca	11	7	8	15	2	3	1	2	0	2	1	5	2	3	2	3	1	4	1	3	1	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:16613927G>A	ENST00000221671.3	+	3	967	c.811G>A	c.(811-813)Gca>Aca	p.A271T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.A271T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	271										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACTCTCCAGCGCAAAGCCTTC	0.473													4	70					0	0	0	0	A	16613927	G	A	16613927	3	1	489	1	0	0	0	0	1	0	0	0	1945	1087	38	1	817	1	C19orf44	19	16613927	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2022792	16613927	42515056	610	94722											
FAM129C	199786	broad.mit.edu	37	chr19	17664289	17664289	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcccgtgtgttcttggttCagcttgcagagggactttca	6	15	11	9	1	3	1	2	0	1	1	4	2	4	2	1	2	2	4	1	2	0	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:17664289C>T	ENST00000335393.4	+	16	2149	c.2011C>T	c.(2011-2013)Cag>Tag	p.Q671*	FAM129C_ENST00000449408.2_Nonsense_Mutation_p.Q397*|FAM129C_ENST00000601861.1_Nonsense_Mutation_p.Q640*	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	671										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						GTTCTTGGTTCAGCTTGCAGA	0.522													28	109					0	0	0	0	T	17664289	C	T	17664289	4	4	489	1	0	0	0	0	0	1	0	0	5479	827	29	2	2190	2	FAM129C	19	17664289	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1050362	17664289	41464694	611	94723											
PDE4C	5143	broad.mit.edu	37	chr19	18331312	18331312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgtctccaatgccagcttCtgccccgtgtcctctgggag	5	10	11	15	2	3	0	0	0	3	0	5	1	4	1	5	1	4	1	5	1	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:18331312C>T	ENST00000355502.3	-	10	1480	c.609G>A	c.(607-609)caG>caA	p.Q203Q	PDE4C_ENST00000594465.2_Silent_p.Q203Q|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000594617.2_Silent_p.Q203Q|PDE4C_ENST00000447275.2_Silent_p.Q97Q|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000262805.11_Silent_p.Q171Q			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	203					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	ATGCCAGCTTCTGCCCCGTGT	0.662													6	40					0	0	0	0	T	18331312	C	T	18331312	2	4	489	1	0	0	0	0	0	0	0	1	11712	912	32	2		2	PDE4C	19	18331312	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	667023	18331312	40797671	612	94724											
ZNF626	199777	broad.mit.edu	37	chr19	20807837	20807837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcacatttgtagggtttCttttccgtatgaattatctc	7	20	6	8	1	4	1	1	1	3	0	6	1	5	1	1	1	0	3	1	1	4	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:20807837C>T	ENST00000601440.1	-	4	992	c.846G>A	c.(844-846)aaG>aaA	p.K282K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P284fs*5(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTTTCTTTTCCGTAT	0.388													74	144					0	0	0	0	T	20807837	C	T	20807837	2	4	489	1	0	0	0	0	0	0	0	1	18145	912	32	2		2	ZNF626	19	20807837	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2476525	20807837	38321146	613	94725											
ZNF43	7594	broad.mit.edu	37	chr19	21991152	21991152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacacttgtagggtttctCtccagtatgaatcctcttat	8	17	6	10	0	3	1	1	1	2	0	6	1	5	1	2	1	0	3	2	1	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:21991152C>G	ENST00000594012.1	-	7	2183	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	ZNF43_ENST00000598381.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000354959.4_Missense_Mutation_p.E563Q|ZNF43_ENST00000595461.1_Missense_Mutation_p.E557Q	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E563Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAGGGTTTCTCTCCAGTATGA	0.368													38	93					0	0	0	0	G	21991152	C	G	21991152	3	3	489	1	0	0	0	0	1	0	0	0	17998	922	32	2	746	2	ZNF43	19	21991152	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1183315	21991152	37137831	614	94726											
KIAA0355	9710	broad.mit.edu	37	chr19	34791776	34791776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagccagtcggctgacctCggccataaagcctgagatcg	10	6	12	13	3	0	2	0	2	0	1	3	3	0	2	4	2	3	2	4	2	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:34791776C>T	ENST00000299505.6	+	2	1271	c.398C>T	c.(397-399)tCg>tTg	p.S133L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	133										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGGCTGACCTCGGCCATAAAG	0.502													15	45					0	0	0	0	T	34791776	C	T	34791776	3	4	489	1	0	0	0	0	1	0	0	0	8221	893	31	1	400	1	KIAA0355	19	34791776	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	12800624	34791776	24337207	615	94727											
GAPDHS	26330	broad.mit.edu	37	chr19	36035831	36035831	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcgtctctacggacttcctCggtgatacccactcgtccat	6	12	8	15	4	1	1	0	1	1	0	7	2	3	2	3	2	2	0	3	2	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:36035831C>G	ENST00000222286.4	+	10	1193	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	359					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CGGACTTCCTCGGTGATACCC	0.522													26	86					0	0	0	0	G	36035831	C	G	36035831	2	3	489	1	0	0	0	0	0	0	0	1	6286	871	31	3		3	GAPDHS	19	36035831	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1244055	36035831	23093152	616	94728											
ZNF382	84911	broad.mit.edu	37	chr19	37117137	37117137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaaactaattaaggagaGaagtaatatttatggtaaaa	22	10	7	2	0	0	1	0	0	0	1	0	3	0	2	0	2	1	2	0	2	11	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37117137G>A	ENST00000435416.1	+	3	1830	c.335G>A	c.(334-336)aGa>aAa	p.R112K	ZNF382_ENST00000292928.2_Missense_Mutation_p.R113K|ZNF382_ENST00000423582.1_Missense_Mutation_p.R64K|ZNF382_ENST00000439428.1_Missense_Mutation_p.R112K			Q96SR6	ZN382_HUMAN	zinc finger protein 382	113	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTAAGGAGAGAAGTAATATT	0.313													32	101					0	0	0	0	A	37117137	G	A	37117137	3	1	489	1	0	0	0	0	1	0	0	0	17968	942	33	2	348	2	ZNF382	19	37117137	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1081306	37117137	22011846	617	94729											
ZNF585B	92285	broad.mit.edu	37	chr19	37678011	37678011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatgtaccttgaactgtGacttccaggtgaagctcttt	9	14	9	9	0	2	4	1	3	1	1	3	4	3	4	2	1	3	2	2	1	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37678011G>A	ENST00000532828.2	-	5	679	c.428C>T	c.(427-429)tCa>tTa	p.S143L	ZNF585B_ENST00000531805.1_Missense_Mutation_p.S88L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_Missense_Mutation_p.S143L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAACTGTGACTTCCAGGT	0.388													31	105					0	0	0	0	A	37678011	G	A	37678011	3	1	489	1	0	0	0	0	1	0	0	0	18113	1294	45	2	1885	2	ZNF585B	19	37678011	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	560874	37678011	21450972	618	94730											
ZNF569	148266	broad.mit.edu	37	chr19	37904385	37904385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtaagggctgagctttgaGagaaggcttttccacactca	11	10	11	9	0	1	3	1	2	0	1	2	4	2	3	1	2	1	4	1	2	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37904385G>A	ENST00000316950.6	-	6	1732	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	ZNF569_ENST00000392149.2_Missense_Mutation_p.S392F|ZNF569_ENST00000392150.2_Missense_Mutation_p.S233F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGCTTTGAGAGAAGGCTTT	0.393													23	107					0	0	0	0	A	37904385	G	A	37904385	3	1	489	1	0	0	0	0	1	0	0	0	18095	942	33	2	889	2	ZNF569	19	37904385	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	226374	37904385	21224598	619	94731											
MED29	55588	broad.mit.edu	37	chr19	39882005	39882005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactagaaatagggatgctGaaaagcaacggggagagacg	16	4	16	5	2	0	3	0	1	0	2	0	7	0	6	0	4	3	2	0	4	6	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:39882005G>A	ENST00000315588.5	+	1	55	c.6G>A	c.(4-6)ctG>ctA	p.L2L		NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-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;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGGGATGCTGAAAAGCAACG	0.572													8	15					0	0	0	0	A	39882005	G	A	39882005	2	1	489	1	0	0	0	0	0	0	0	1	9516	1277	45	2		2	MED29	19	39882005	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1977620	39882005	19246978	620	94732											
ATP1A3	478	broad.mit.edu	37	chr19	42489172	42489172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagaatgagggagaggatGaagaaggagacacccaggaa	17	2	16	6	1	0	6	0	2	0	4	0	11	0	8	2	4	0	0	2	4	4	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:42489172G>A	ENST00000545399.1	-	8	1083	c.930C>T	c.(928-930)ttC>ttT	p.F310F	ATP1A3_ENST00000302102.5_Silent_p.F297F|ATP1A3_ENST00000602133.1_Silent_p.F267F|ATP1A3_ENST00000543770.1_Silent_p.F308F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	297					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGGAGAGGATGAAGAAGGAGA	0.577													12	23					0	0	0	0	A	42489172	G	A	42489172	2	1	489	1	0	0	0	0	0	0	0	1	1134	1281	45	2		2	ATP1A3	19	42489172	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2607167	42489172	16639811	621	94733											
MEGF8	1954	broad.mit.edu	37	chr19	42847735	42847735	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccggccccgtggggacttGatggcgtacaaggtgccccc	5	6	16	14	3	0	1	0	1	0	0	0	2	0	2	5	6	2	1	5	6	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:42847735G>C	ENST00000334370.4	+	9	2255	c.1620G>C	c.(1618-1620)ttG>ttC	p.L540F	MEGF8_ENST00000251268.6_Missense_Mutation_p.L540F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	540						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGGGGACTTGATGGCGTACA	0.667													11	31					0	0	0	0	C	42847735	G	C	42847735	3	2	489	1	0	0	0	0	1	0	0	0	9532	1281	45	2	1654	2	MEGF8	19	42847735	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	358563	42847735	16281248	622	94734											
CLPTM1	1209	broad.mit.edu	37	chr19	45491406	45491406	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtctatcgttcacagtgtCttcgagttcctggccttcaa	6	15	9	11	2	4	0	2	0	2	0	7	1	5	0	2	1	0	2	2	1	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:45491406C>G	ENST00000541297.2	+	9	1530	c.1065C>G	c.(1063-1065)gtC>gtG	p.V355V	CLPTM1_ENST00000337392.5_Silent_p.V369V|CLPTM1_ENST00000546079.1_Silent_p.V267V			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	369					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TTCACAGTGTCTTCGAGTTCC	0.612													22	93					0	0	0	0	G	45491406	C	G	45491406	2	3	489	1	0	0	0	0	0	0	0	1	3584	900	32	2		2	CLPTM1	19	45491406	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2643671	45491406	13637577	623	94735											
EXOC3L2	90332	broad.mit.edu	37	chr19	45735089	45735089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagagaaggggccccagctCcccattctccagggcggcca	8	4	14	15	1	1	1	0	0	1	1	3	3	2	2	6	5	1	1	6	5	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:45735089C>G	ENST00000413988.1	-	2	62	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E8Q	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	8										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGCCCCAGCTCCCCATTCTCC	0.587													8	32					0	0	0	0	G	45735089	C	G	45735089	3	3	489	1	0	0	0	0	1	0	0	0	5342	864	30	2	1243	2	EXOC3L2	19	45735089	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	243683	45735089	13393894	624	94736											
HIF3A	64344	broad.mit.edu	37	chr19	46811510	46811510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacacagcatctttgatttCatccacccctgtgaccaaga	11	10	7	13	0	2	3	1	2	1	1	3	4	3	4	4	1	1	1	4	1	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46811510C>T	ENST00000339613.2	+	4	483	c.228C>T	c.(226-228)ttC>ttT	p.F76F	HIF3A_ENST00000300862.3_Silent_p.F130F|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.F63F|HIF3A_ENST00000472815.1_Silent_p.F63F|HIF3A_ENST00000420102.2_Silent_p.F81F|HIF3A_ENST00000377670.4_Silent_p.F132F|HIF3A_ENST00000600383.1_Silent_p.F63F			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			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)		TCTTTGATTTCATCCACCCCT	0.587													38	110					0	0	0	0	T	46811510	C	T	46811510	2	4	489	1	0	0	0	0	0	0	0	1	7155	825	29	2		2	HIF3A	19	46811510	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1076421	46811510	12317473	625	94737											
PPP5C	5536	broad.mit.edu	37	chr19	46857086	46857086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatctactatggcaaccGcagcctggcctacctgcgca	8	8	9	16	2	1	0	0	0	1	0	1	0	1	0	5	2	6	3	5	2	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46857086G>T	ENST00000012443.4	+	2	306	c.203G>T	c.(202-204)cGc>cTc	p.R68L	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	68					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TATGGCAACCGCAGCCTGGCC	0.572													5	15					0.014758	0.0148765	1	0	T	46857086	G	T	46857086	3	4	489	1	0	0	0	0	1	0	0	0	12482	1087	38	3	209	3	PPP5C	19	46857086	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	45576	46857086	12271897	626	94738											
CCDC8	83987	broad.mit.edu	37	chr19	46914652	46914652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcactgtcttgacctgtttCcgggccctggctcctggagc	3	12	11	15	1	2	1	1	1	1	0	4	2	4	2	4	3	1	2	4	3	0	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46914652C>T	ENST00000307522.3	-	1	2189	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	472						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGACCTGTTTCCGGGCCCTGG	0.612													18	51					0	0	0	0	T	46914652	C	T	46914652	2	4	489	1	0	0	0	0	0	0	0	1	2880	842	30	2		2	CCDC8	19	46914652	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	57566	46914652	12214331	627	94739											
CCDC8	83987	broad.mit.edu	37	chr19	46914864	46914864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttgattatctgtaacctCtgacccctggtcagctgggg	6	13	10	12	0	3	2	1	2	2	0	3	2	3	2	4	3	2	2	4	3	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46914864C>G	ENST00000307522.3	-	1	1977	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	402						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TCTGTAACCTCTGACCCCTGG	0.607													16	72					0	0	0	0	G	46914864	C	G	46914864	3	3	489	1	0	0	0	0	1	0	0	0	2880	922	32	2	416	2	CCDC8	19	46914864	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	212	46914864	12214119	628	94740											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424871	47424871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatcaccgctctgcaactCaaacctgcaggattcagaag	13	7	9	12	1	4	1	3	0	1	1	4	3	4	3	2	2	4	3	2	2	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:47424871C>T	ENST00000404338.3	+	1	2939	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	980					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTCTGCAACTCAAACCTGCAG	0.498													23	71					0	0	0	0	T	47424871	C	T	47424871	3	4	489	1	0	0	0	0	1	0	0	0	6845	838	29	2	2941	2	ARHGAP35	19	47424871	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	510007	47424871	11704112	629	94741											
EHD2	30846	broad.mit.edu	37	chr19	48220235	48220235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggacccggacaagcccttCcgcaaactcaaccctttcgg	9	7	9	16	3	1	0	1	0	0	0	3	2	2	2	4	3	3	1	4	3	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:48220235C>T	ENST00000263277.3	+	2	617	c.366C>T	c.(364-366)ttC>ttT	p.F122F	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	122					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACAAGCCCTTCCGCAAACTCA	0.602													16	56					0	0	0	0	T	48220235	C	T	48220235	2	4	489	1	0	0	0	0	0	0	0	1	5014	854	30	2		2	EHD2	19	48220235	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	795364	48220235	10908748	630	94742											
TPRX1	284355	broad.mit.edu	37	chr19	48305262	48305262	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcggaggcatcggggctctGaggccataagggggctgggg	6	6	21	8	2	1	1	0	1	1	0	3	2	1	2	1	9	0	3	1	9	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:48305262G>A	ENST00000535759.1	-	4	1296	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*	TPRX1_ENST00000543508.1_Nonsense_Mutation_p.Q326*|TPRX1_ENST00000322175.3_Nonsense_Mutation_p.Q336*			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	336						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCGGGGCTCTGAGGCCATAAG	0.622													13	46					0	0	0	0	A	48305262	G	A	48305262	4	1	489	1	0	0	0	0	0	1	0	0	16517	1299	45	2	233	2	TPRX1	19	48305262	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	85027	48305262	10823721	631	94743											
CCDC155	147872	broad.mit.edu	37	chr19	49920332	49920332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcccagaaaaccctccaGagaggtaataggacccacag	16	4	8	13	0	0	2	0	0	0	2	2	4	2	3	4	2	1	1	4	2	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:49920332G>C	ENST00000447857.3	+	18	1640	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	479						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAACCCTCCAGAGAGGTAATA	0.607													3	14					0	0	0	0	C	49920332	G	C	49920332	3	2	489	1	0	0	0	0	1	0	0	0	2814	943	33	2	1501	2	CCDC155	19	49920332	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1615070	49920332	9208651	632	94744											
MYBPC2	4606	broad.mit.edu	37	chr19	50962508	50962508	+	Silent	SNP	G	G	T																															gactccggggagtacgagctGagcgtgcagatcgagaacat																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:50962508G>T	ENST00000357701.5	+	23	2787	c.2736G>T	c.(2734-2736)ctG>ctT	p.L912L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	912	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTACGAGCTGAGCGTGCAGA	0.706													9	39					0.0809354	0.0813984	1	0	T	50962508	G	T	50962508	2	4	489	1	0	0	0	0	0	0	0	1	10082	1277	45	2		2	MYBPC2	19	50962508	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1042176	50962508	8166475	633	94745	1130	2									
MYBPC2	4606	broad.mit.edu	37	chr19	50962509	50962509	+	Missense_Mutation	SNP	A	A	T																															actccggggagtacgagctgAgcgtgcagatcgagaacatg																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:50962509A>T	ENST00000357701.5	+	23	2788	c.2737A>T	c.(2737-2739)Agc>Tgc	p.S913C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	913	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTACGAGCTGAGCGTGCAGAT	0.701													8	39					0	0	0	0	T	50962509	A	T	50962509	3	4	489	1	0	0	0	0	1	0	0	0	10082	304	11	5	2827	5	MYBPC2	19	50962509	Missense_Mutation	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	1	50962509	8166474	634	94746	1130	2									
PEG3	5178	broad.mit.edu	37	chr19	57325390	57325390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcggcatctccctctggctCttcagcttttccctctggct	2	15	8	16	1	5	0	1	0	4	0	8	0	6	0	2	3	1	4	2	3	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57325390C>T	ENST00000326441.9	-	10	4783	c.4420G>A	c.(4420-4422)Gag>Aag	p.E1474K	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1474K|PEG3_ENST00000598410.1_Missense_Mutation_p.E1350K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1348K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1474	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCCTCTGGCTCTTCAGCTTTT	0.517													34	108					0	0	0	0	T	57325390	C	T	57325390	3	4	489	1	0	0	0	0	1	0	0	0	11791	922	32	2	350	2	PEG3	19	57325390	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6362881	57325390	1803593	635	94747											
USP29	57663	broad.mit.edu	37	chr19	57641576	57641576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtccttatcattcatctGaaacgctatagcttcaacaa	13	12	6	10	1	4	1	3	1	1	0	5	1	5	1	1	1	3	2	1	1	6	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57641576G>A	ENST00000254181.4	+	4	1987	c.1533G>A	c.(1531-1533)ctG>ctA	p.L511L	USP29_ENST00000598197.1_Silent_p.L511L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	511					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCATCTGAAACGCTATA	0.373													33	123					0	0	0	0	A	57641576	G	A	57641576	2	1	489	1	0	0	0	0	0	0	0	1	17155	1277	45	2		2	USP29	19	57641576	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	316186	57641576	1487407	636	94748											
VN1R1	57191	broad.mit.edu	37	chr19	57967615	57967615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatcaagtccgtgggtctCagcttgtgtccagtgaacaa	11	10	11	9	1	2	2	2	1	1	1	5	2	4	2	2	1	2	1	2	1	4	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57967615C>T	ENST00000321039.3	-	1	239	c.240G>A	c.(238-240)ctG>ctA	p.L80L	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CCGTGGGTCTCAGCTTGTGTC	0.428													11	44					0	0	0	0	T	57967615	C	T	57967615	2	4	489	1	0	0	0	0	0	0	0	1	17274	813	29	2		2	VN1R1	19	57967615	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	326039	57967615	1161368	637	94749											
ZNF551	90233	broad.mit.edu	37	chr19	58199002	58199002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgaatgcagagaatgtggGaaatcctttagacaattctc	14	12	9	6	0	1	3	0	1	1	2	3	5	2	4	1	1	1	1	1	1	6	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:58199002G>A	ENST00000282296.5	+	3	1544	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.G437G	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGAATGTGGGAAATCCTTTA	0.433													39	90					0	0	0	0	A	58199002	G	A	58199002	2	1	489	1	0	0	0	0	0	0	0	1	18078	1161	41	2		2	ZNF551	19	58199002	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	231387	58199002	929981	638	94750											
ZNF135	7694	broad.mit.edu	37	chr19	58578450	58578450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggaaaaagggagaagccaGacctaaatgttttacagaaa	18	7	11	5	0	0	3	0	0	0	3	0	5	0	4	2	2	2	1	2	2	7	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:58578450G>C	ENST00000506786.1	+	5	1026	c.472G>C	c.(472-474)Gac>Cac	p.D158H	ZNF135_ENST00000511556.1_Missense_Mutation_p.D212H|ZNF135_ENST00000359978.6_Missense_Mutation_p.D212H|ZNF135_ENST00000313434.5_Missense_Mutation_p.D200H|ZNF135_ENST00000401053.4_Missense_Mutation_p.D224H|ZNF135_ENST00000439855.2_Missense_Mutation_p.D200H			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	212					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAGAAGCCAGACCTAAATGT	0.453													14	82					0	0	0	0	C	58578450	G	C	58578450	3	2	489	1	0	0	0	0	1	0	0	0	17820	942	33	2	801	2	ZNF135	19	58578450	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	379448	58578450	550533	639	94751											
ANGPT4	51378	broad.mit.edu	37	chr20	869080	869080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attcttgatgtctggttcagGagctgccccagcaagcagaa	10	10	11	10	0	3	2	1	1	2	1	3	3	3	3	2	2	4	4	2	2	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:869080G>A	ENST00000381922.3	-	3	570	c.468C>T	c.(466-468)ctC>ctT	p.L156L	ANGPT4_ENST00000546022.1_Silent_p.L156L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	156					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTGGTTCAGGAGCTGCCCCA	0.597													14	59					0	0	0	0	A	869080	G	A	869080	2	1	489	1	0	0	0	0	0	0	0	1	612	1161	41	2		2	ANGPT4	20	869080	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		869080	62156440	640	94752											
RSPO4	343637	broad.mit.edu	37	chr20	948705	948705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgaacaggaagagcctCtgctggcaggtggaacagcc	11	5	15	10	1	1	2	0	1	1	1	1	5	1	5	2	5	5	2	2	5	3	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:948705C>A	ENST00000217260.4	-	2	252	c.156G>T	c.(154-156)caG>caT	p.Q52H	RSPO4_ENST00000400634.2_Missense_Mutation_p.Q52H	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	52					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGAAGAGCCTCTGCTGGCAGG	0.637													20	81					1.96292e-10	2.05651e-10	1	0	A	948705	C	A	948705	3	1	489	1	0	0	0	0	1	0	0	0	13797	912	32	2	564	2	RSPO4	20	948705	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	79625	948705	62076815	641	94753											
NSFL1C	55968	broad.mit.edu	37	chr20	1438876	1438876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttcctcctcatcttcatCttggtcatgaatgaggtctc	6	16	6	13	0	7	2	3	2	4	0	10	2	9	2	2	2	0	0	2	2	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:1438876C>G	ENST00000216879.4	-	3	1114	c.247G>C	c.(247-249)Gat>Cat	p.D83H	NSFL1C_ENST00000381658.4_Missense_Mutation_p.K3N|NSFL1C_ENST00000350991.4_Missense_Mutation_p.D83H|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000353088.2_Missense_Mutation_p.D83H|NSFL1C_ENST00000476071.1_Missense_Mutation_p.D83H	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	83						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCATCTTCATCTTGGTCATGA	0.478													17	101					0	0	0	0	G	1438876	C	G	1438876	3	3	489	1	0	0	0	0	1	0	0	0	10743	913	32	2	893	2	NSFL1C	20	1438876	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	490171	1438876	61586644	642	94754											
SIRPB1	10326	broad.mit.edu	37	chr20	1592215	1592215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gattgtagattaattcccggCctggtccagctcctctgaac	8	12	9	12	1	1	2	0	1	1	1	4	3	4	2	4	2	2	2	4	2	3	4	rs41289057	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:1592215C>G	ENST00000279477.7	-	2	285	c.221G>C	c.(220-222)gGc>gCc	p.G74A	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	74	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAATTCCCGGCCTGGTCCAGC	0.522													13	124					0	0	0	0	G	1592215	C	G	1592215	3	3	489	1	0	0	0	0	1	0	0	0	14421	739	26	4	2128	4	SIRPB1	20	1592215	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	153339	1592215	61433305	643	94755											
ATRN	8455	broad.mit.edu	37	chr20	3557510	3557510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccactgtgttctagatctCcatttttaggtatgagaatt	9	17	8	7	0	2	2	0	1	2	2	4	3	3	2	2	1	0	2	2	1	4	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3557510C>G	ENST00000262919.5	+	14	2287	c.2219C>G	c.(2218-2220)tCc>tGc	p.S740C	ATRN_ENST00000446916.2_Missense_Mutation_p.S740C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	740	PSI 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCTAGATCTCCATTTTTAGG	0.433													41	153					0	0	0	0	G	3557510	C	G	3557510	3	3	489	1	0	0	0	0	1	0	0	0	1210	855	30	2	2273	2	ATRN	20	3557510	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1965295	3557510	59468010	644	94756											
CENPB	1059	broad.mit.edu	37	chr20	3766555	3766555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactggtctcggtggcgctGaacacgtcctgcgaggcgta	7	8	15	11	5	1	2	0	1	1	1	3	3	2	2	1	4	2	2	1	4	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766555G>A	ENST00000379751.4	-	1	782	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	192					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CGGTGGCGCTGAACACGTCCT	0.721													16	66					0	0	0	0	A	3766555	G	A	3766555	2	1	489	1	0	0	0	0	0	0	0	1	3256	1281	45	2		2	CENPB	20	3766555	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	209045	3766555	59258965	645	94757			6	160		3	3	35	G		2.941249e-07
CENPB	1059	broad.mit.edu	37	chr20	3766568	3766568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcgctgaacacgtcctgcGaggcgtagccctcggccacc	6	6	13	16	5	0	1	0	1	0	0	2	2	1	1	4	3	3	2	4	3	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766568G>A	ENST00000379751.4	-	1	769	c.563C>T	c.(562-564)tCg>tTg	p.S188L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	188					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CACGTCCTGCGAGGCGTAGCC	0.731													15	56					0	0	0	0	A	3766568	G	A	3766568	3	1	489	1	0	0	0	0	1	0	0	0	3256	1059	37	1	1240	1	CENPB	20	3766568	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	13	3766568	59258952	646	94758			6	160		3	3	35	G		2.941249e-07
CENPB	1059	broad.mit.edu	37	chr20	3766589	3766589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcgtagccctcggccaccGacggcggctgctcctcccga	5	5	13	18	6	0	0	0	0	0	0	3	2	2	0	5	4	2	3	5	4	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766589G>A	ENST00000379751.4	-	1	748	c.542C>T	c.(541-543)tCg>tTg	p.S181L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	181					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CTCGGCCACCGACGGCGGCTG	0.746													5	36					0	0	0	0	A	3766589	G	A	3766589	3	1	489	1	0	0	0	0	1	0	0	0	3256	1059	37	1	1261	1	CENPB	20	3766589	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	21	3766589	59258931	647	94759			6	160		3	3	35	G		2.941249e-07
BTBD3	22903	broad.mit.edu	37	chr20	11899749	11899749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatagaaatgcgatgatgttCaataatgatttgatggcaga	15	13	10	3	1	1	5	1	3	0	2	1	6	1	5	0	1	1	2	0	1	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:11899749C>T	ENST00000405977.1	+	3	967	c.342C>T	c.(340-342)ttC>ttT	p.F114F	BTBD3_ENST00000254977.3_Silent_p.F53F|BTBD3_ENST00000399006.2_Silent_p.F53F|BTBD3_ENST00000378226.2_Silent_p.F114F			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	114										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGATGATGTTCAATAATGATT	0.438													9	39					0	0	0	0	T	11899749	C	T	11899749	2	4	489	1	0	0	0	0	0	0	0	1	1553	825	29	2		2	BTBD3	20	11899749	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	8133160	11899749	51125771	648	94760											
TASP1	55617	broad.mit.edu	37	chr20	13371100	13371100	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagtcttgaaatgtgagtCtgcagagagagagagacagc	14	7	15	5	0	2	5	0	2	2	3	2	9	2	6	0	1	2	1	0	1	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:13371100C>T	ENST00000337743.4	-	14	1291		c.e14-1		TASP1_ENST00000480436.1_Splice_Site|TASP1_ENST00000539805.1_Splice_Site	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1						asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AAATGTGAGTCTGCAGAGAGA	0.572													6	40					0	0	0	0	T	13371100	C	T	13371100	5	4	489	1	0	0	0	0	0	0	1	0	15680	927	32	2	96	2	TASP1	20	13371100	Splice_Site	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1471351	13371100	49654420	649	94761											
ESF1	51575	broad.mit.edu	37	chr20	13740396	13740396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcctttcttttctttttCttgaataacctgcaagagct	7	20	5	9	0	3	2	0	1	3	1	3	2	3	2	2	0	4	2	2	0	3	8			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:13740396C>G	ENST00000202816.1	-	9	1878	c.1771G>C	c.(1771-1773)Gaa>Caa	p.E591Q		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	591	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTTCTTTTTCTTGAATAACC	0.328													18	61					0	0	0	0	G	13740396	C	G	13740396	3	3	489	1	0	0	0	0	1	0	0	0	5289	922	32	2	808	2	ESF1	20	13740396	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	369296	13740396	49285124	650	94762											
MACROD2	140733	broad.mit.edu	37	chr20	15967446	15967446	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcatatatggaaacagaaGgtactgaaaccaaaatatat	19	9	7	6	0	1	2	1	1	0	1	1	3	1	3	1	2	3	2	1	2	10	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:15967446G>T	ENST00000217246.4	+	14	1455	c.1060_splice	c.e14+1	p.E354_splice	MACROD2_ENST00000310348.4_Splice_Site_p.E354_splice|MACROD2_ENST00000402914.1_Splice_Site_p.E119_splice|MACROD2_ENST00000378058.3_Splice_Site_p.E119_splice|MACROD2_ENST00000407045.3_Splice_Site_p.E5_splice	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	354	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGAAACAGAAGGTACTGAAAC	0.338													12	37					6.40141e-05	6.49751e-05	1	0	T	15967446	G	T	15967446	5	4	489	1	0	0	0	0	0	0	1	0	9211	1014	35	4	1114	4	MACROD2	20	15967446	Splice_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2227050	15967446	47058074	651	94763											
PCSK2	5126	broad.mit.edu	37	chr20	17417514	17417514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacgctgcaggccatggccGatggcgtgaacaaggtaagg	10	6	15	10	3	1	1	1	1	0	0	1	2	1	1	2	5	2	3	2	5	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:17417514G>A	ENST00000262545.2	+	8	1186	c.871G>A	c.(871-873)Gat>Aat	p.D291N	PCSK2_ENST00000536609.1_Missense_Mutation_p.D256N|PCSK2_ENST00000377899.1_Missense_Mutation_p.D272N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	291	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCATGGCCGATGGCGTGAA	0.632													8	28					0	0	0	0	A	17417514	G	A	17417514	3	1	489	1	0	0	0	0	1	0	0	0	11672	1058	37	1	901	1	PCSK2	20	17417514	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1450068	17417514	45608006	652	94764											
SNX5	27131	broad.mit.edu	37	chr20	17932200	17932200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacacttttgaagaagcCaccaaacatctctttagtat	14	11	4	12	0	1	2	0	1	1	1	2	2	1	2	3	0	2	1	3	0	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:17932200C>T	ENST00000377768.3	-	7	865	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	SNX5_ENST00000377759.4_Missense_Mutation_p.G185S|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	185					cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TTGAAGAAGCCACCAAACATC	0.348													22	123					0	0	0	0	T	17932200	C	T	17932200	3	4	489	1	0	0	0	0	1	0	0	0	14993	594	21	4	693	4	SNX5	20	17932200	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	514686	17932200	45093320	653	94765											
GGTLC1	92086	broad.mit.edu	37	chr20	23966319	23966319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacctggtcaatgtttctCtccactgtcgtgacgttggg	5	13	10	13	2	2	1	1	1	1	0	5	1	3	1	3	2	0	2	3	2	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:23966319C>G	ENST00000335694.4	-	5	720	c.516G>C	c.(514-516)gaG>gaC	p.E172D	GGTLC1_ENST00000286890.4_Missense_Mutation_p.E172D|GGTLC1_ENST00000278765.4_Missense_Mutation_p.E172D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	172							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CAATGTTTCTCTCCACTGTCG	0.607													14	121					0	0	0	0	G	23966319	C	G	23966319	3	3	489	1	0	0	0	0	1	0	0	0	6416	912	32	2	169	2	GGTLC1	20	23966319	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6034119	23966319	39059201	654	94766											
COX4I2	84701	broad.mit.edu	37	chr20	30227812	30227812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatgccagaagagcccttCtgcacagaactcaacgctga	12	6	8	15	1	2	4	1	1	1	3	2	4	2	4	3	0	5	2	3	0	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30227812C>G	ENST00000376075.3	+	3	234	c.159C>G	c.(157-159)ttC>ttG	p.F53L	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	53					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAGAGCCCTTCTGCACAGAAC	0.602													40	42					0	0	0	0	G	30227812	C	G	30227812	3	3	489	1	0	0	0	0	1	0	0	0	3800	912	32	2	165	2	COX4I2	20	30227812	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6261493	30227812	32797708	655	94767											
PLAGL2	5326	broad.mit.edu	37	chr20	30784442	30784442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtagcccatgaccaggcctCctgtggccccaggtgggtta	7	8	13	13	0	0	1	0	1	0	0	1	1	1	1	6	4	1	2	6	4	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30784442C>A	ENST00000246229.4	-	3	1568	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	435						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GACCAGGCCTCCTGTGGCCCC	0.607													5	101					0.014758	0.0148765	1	0	A	30784442	C	A	30784442	3	1	489	1	0	0	0	0	1	0	0	0	12092	855	30	2	190	2	PLAGL2	20	30784442	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	556630	30784442	32241078	656	94768											
KIF3B	9371	broad.mit.edu	37	chr20	30898122	30898122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatgtgaaagacctgtcttCctttgtcaccaagagtgtga	10	13	10	8	0	2	4	1	2	1	2	3	4	3	4	3	0	0	1	3	0	3	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30898122C>A	ENST00000375712.3	+	2	709	c.542C>A	c.(541-543)tCc>tAc	p.S181Y		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	181	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GACCTGTCTTCCTTTGTCACC	0.498													22	264					1.10513e-12	1.17179e-12	1	0	A	30898122	C	A	30898122	3	1	489	1	0	0	0	0	1	0	0	0	8352	855	30	2	544	2	KIF3B	20	30898122	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	113680	30898122	32127398	657	94769											
NCOA6	23054	broad.mit.edu	37	chr20	33331002	33331002	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgctgagactgtggctGactgggaggtggtggctgct	4	11	18	8	0	0	2	0	2	0	1	0	4	0	3	0	5	3	5	0	5	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:33331002G>A	ENST00000374796.2	-	12	5628	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1020*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1020	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACTGTGGCTGACTGGGAGGT	0.567													21	102					0	0	0	0	A	33331002	G	A	33331002	4	1	489	1	0	0	0	0	0	1	0	0	10303	1299	45	2	3153	2	NCOA6	20	33331002	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2432880	33331002	29694518	658	94770											
EPB41L1	2036	broad.mit.edu	37	chr20	34806809	34806809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccccaggagaacagtctCaagtccgggaagggggcagc	10	6	14	11	1	1	1	1	0	1	1	4	3	3	2	3	4	2	1	3	4	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:34806809C>T	ENST00000338074.2	+	18	2441	c.2280C>T	c.(2278-2280)ctC>ctT	p.L760L	EPB41L1_ENST00000202028.5_Silent_p.L658L|EPB41L1_ENST00000373946.3_Silent_p.L580L|EPB41L1_ENST00000373950.2_Silent_p.L651L|EPB41L1_ENST00000373941.1_Silent_p.L759L|EPB41L1_ENST00000441639.1_Silent_p.L658L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	760	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAACAGTCTCAAGTCCGGGA	0.617													5	28					0	0	0	0	T	34806809	C	T	34806809	2	4	489	1	0	0	0	0	0	0	0	1	5190	813	29	2		2	EPB41L1	20	34806809	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1475807	34806809	28218711	659	94771											
RPN2	6185	broad.mit.edu	37	chr20	35838545	35838545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagagccactgtcctccaGaagacatccttcacccctgt	9	9	6	17	0	1	3	1	0	0	3	5	3	5	3	7	0	1	0	7	0	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35838545G>C	ENST00000237530.6	+	8	1274	c.963G>C	c.(961-963)caG>caC	p.Q321H	RPN2_ENST00000373622.5_Missense_Mutation_p.Q289H	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	321					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGTCCTCCAGAAGACATCCT	0.478													35	88					0	0	0	0	C	35838545	G	C	35838545	3	2	489	1	0	0	0	0	1	0	0	0	13693	933	33	2	993	2	RPN2	20	35838545	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1031736	35838545	27186975	660	94772											
RPN2	6185	broad.mit.edu	37	chr20	35857006	35857006	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtggtgtttgttgcCgagccagacaacaagaacgt	12	8	13	8	2	0	2	0	0	0	2	0	4	0	3	2	2	4	2	2	2	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35857006C>T	ENST00000237530.6	+	12	1664	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	RPN2_ENST00000373622.5_Silent_p.A419A	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	451					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGTTTGTTGCCGAGCCAGACA	0.408													27	84					0	0	0	0	T	35857006	C	T	35857006	2	4	489	1	0	0	0	0	0	0	0	1	13693	639	23	1		1	RPN2	20	35857006	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	18461	35857006	27168514	661	94773											
MAFB	9935	broad.mit.edu	37	chr20	39317034	39317034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcgtgcgggcccagctcgtCgtgggccacgccggcgcccg	3	4	17	17	8	0	0	0	0	0	0	2	0	0	0	4	3	3	1	4	3	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:39317034C>G	ENST00000373313.2	-	1	846	c.457G>C	c.(457-459)Gac>Cac	p.D153H	MAFB_ENST00000396967.1_Missense_Mutation_p.D153H	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	153					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CCCAGCTCGTCGTGGGCCACG	0.711			T	IGH@	MM								6	13					0	0	0	0	G	39317034	C	G	39317034	3	3	489	1	0	0	0	0	1	0	0	0	9223	884	31	3	518	3	MAFB	20	39317034	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3460028	39317034	23708486	662	94774											
PTPRT	11122	broad.mit.edu	37	chr20	40828010	40828010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctccactctgggtctccttCtgcttcttggccagcttcct	2	15	8	16	0	4	0	0	0	4	0	7	0	6	0	4	2	2	3	4	2	0	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:40828010C>G	ENST00000373198.3	-	17	2662	c.2427G>C	c.(2425-2427)caG>caC	p.Q809H	PTPRT_ENST00000356100.2_Missense_Mutation_p.Q796H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q777H|PTPRT_ENST00000373187.1_Missense_Mutation_p.Q787H|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q787H|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q790H|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q777H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	787					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTCTCCTTCTGCTTCTTGG	0.552													45	135					0	0	0	0	G	40828010	C	G	40828010	3	3	489	1	0	0	0	0	1	0	0	0	12894	912	32	2	2028	2	PTPRT	20	40828010	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1510976	40828010	22197510	663	94775											
NCOA5	57727	broad.mit.edu	37	chr20	44699104	44699104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgccatccctgggctctCtccttggacttcctcgaatt	4	15	7	15	1	2	0	0	0	2	0	7	2	5	1	4	2	1	1	4	2	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:44699104C>T	ENST00000290231.6	-	3	274	c.110G>A	c.(109-111)aGa>aAa	p.R37K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	37	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCTGGGCTCTCTCCTTGGACT	0.547													7	153					0	0	0	0	T	44699104	C	T	44699104	3	4	489	1	0	0	0	0	1	0	0	0	10302	913	32	2	1653	2	NCOA5	20	44699104	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3871094	44699104	18326416	664	94776											
SULF2	55959	broad.mit.edu	37	chr20	46311796	46311796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggaccctgatgtcaaactCatatggcatggatttccctt	9	12	9	11	1	2	1	2	1	0	0	3	3	3	3	2	3	1	1	2	3	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:46311796C>G	ENST00000359930.4	-	7	1857	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.E336Q|SULF2_ENST00000467815.1_Missense_Mutation_p.E336Q|SULF2_ENST00000484875.1_Missense_Mutation_p.E336Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	336					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGTCAAACTCATATGGCATG	0.597													24	37					0	0	0	0	G	46311796	C	G	46311796	3	3	489	1	0	0	0	0	1	0	0	0	15461	835	29	2	1666	2	SULF2	20	46311796	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1612692	46311796	16713724	665	94777											
ZNF217	7764	broad.mit.edu	37	chr20	52198540	52198540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttccccgtttcagggtGagattttggtctcaagttga	6	16	10	9	1	3	2	2	2	2	1	5	3	4	2	2	2	0	2	2	2	1	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:52198540G>A	ENST00000371471.2	-	2	1251	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	ZNF217_ENST00000302342.3_Missense_Mutation_p.H276Y			O75362	ZN217_HUMAN	zinc finger protein 217	276					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTTTCAGGGTGAGATTTTGGT	0.547													31	125					0	0	0	0	A	52198540	G	A	52198540	3	1	489	1	0	0	0	0	1	0	0	0	17867	1290	45	2	2336	2	ZNF217	20	52198540	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5886744	52198540	10826980	666	94778											
ZNF831	128611	broad.mit.edu	37	chr20	57769308	57769308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccaccgtatccatcgcctCtgcatgggcagcactttggc	7	9	10	15	2	1	0	0	0	1	0	3	0	2	0	4	2	3	4	4	2	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:57769308C>T	ENST00000371030.2	+	1	3234	c.3234C>T	c.(3232-3234)ctC>ctT	p.L1078L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1078						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCATCGCCTCTGCATGGGCA	0.637													4	20					0	0	0	0	T	57769308	C	T	57769308	2	4	489	1	0	0	0	0	0	0	0	1	18278	900	32	2		2	ZNF831	20	57769308	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	5570768	57769308	5256212	667	94779											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288183	61288183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatggcttcatcaacaCagtcatcacctccctggagc	10	10	8	13	0	4	1	4	1	0	0	5	2	5	2	2	2	2	1	2	2	2	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61288183C>G	ENST00000217159.1	+	2	582	c.377C>G	c.(376-378)aCa>aGa	p.T126R	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.T126R	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	126					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTCATCAACACAGTCATCACC	0.617													13	69					0	0	0	0	G	61288183	C	G	61288183	3	3	489	1	0	0	0	0	1	0	0	0	14817	478	17	4	379	4	SLCO4A1	20	61288183	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3518875	61288183	1737337	668	94780											
SLCO4A1	28231	broad.mit.edu	37	chr20	61299845	61299845	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagatgtgtccgtgaccctCagagatcctttgccctggga	7	10	12	12	1	1	3	1	1	0	2	3	5	3	4	4	1	1	1	4	1	0	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61299845C>T	ENST00000217159.1	+	10	2033	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Nonsense_Mutation_p.Q610*	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	610					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCGTGACCCTCAGAGATCCTT	0.542											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	96					0	0	0	0	T	61299845	C	T	61299845	4	4	489	1	0	0	0	0	0	1	0	0	14817	827	29	2	1862	2	SLCO4A1	20	61299845	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	11662	61299845	1725675	669	94781											
DIDO1	11083	broad.mit.edu	37	chr20	61513653	61513653	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgtccgcttcttccggttGaagtcgggtccgcttttcgt	4	14	11	12	6	1	1	0	1	1	0	6	1	4	1	3	2	1	3	3	2	2	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61513653G>A	ENST00000266070.4	-	16	3980	c.3655C>T	c.(3655-3657)Caa>Taa	p.Q1219*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1219*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1219					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTTCCGGTTGAAGTCGGGTC	0.512													40	140					0	0	0	0	A	61513653	G	A	61513653	4	1	489	1	0	0	0	0	0	1	0	0	4559	1299	45	2	3071	2	DIDO1	20	61513653	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	213808	61513653	1511867	670	94782											
OPRL1	4987	broad.mit.edu	37	chr20	62729471	62729471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcctctgttgtcggtgttCccgttgccatcatgggctcg	2	14	13	12	3	2	0	1	0	1	0	5	0	3	0	3	3	1	4	3	3	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:62729471C>T	ENST00000349451.3	+	5	962	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	OPRL1_ENST00000355631.4_Missense_Mutation_p.P184S|OPRL1_ENST00000336866.2_Missense_Mutation_p.P184S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	184					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGTCGGTGTTCCCGTTGCCAT	0.662													15	58					0	0	0	0	T	62729471	C	T	62729471	3	4	489	1	0	0	0	0	1	0	0	0	10957	855	30	2	556	2	OPRL1	20	62729471	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1215818	62729471	296049	671	94783											
USP16	10600	broad.mit.edu	37	chr21	30414333	30414333	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagacttttttttctccataGattatgagaagaaaaaatca	16	15	5	5	0	2	4	1	1	1	4	3	5	2	4	1	0	0	0	1	0	7	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:30414333G>C	ENST00000334352.4	+	12	1261		c.e12-1		USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Splice_Site|USP16_ENST00000399976.2_Splice_Site	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16						cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TTTCTCCATAGATTATGAGAA	0.294													4	26					0	0	0	0	C	30414333	G	C	30414333	5	2	489	1	0	0	0	0	0	0	1	0	17143	956	33	2	1068	2	USP16	21	30414333	Splice_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		30414333	17715562	672	94784											
CLDN8	9073	broad.mit.edu	37	chr21	31587582	31587582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaactacacatactgacttCtggagtagacgctcggtgac	12	9	9	11	2	1	3	0	2	1	1	2	4	1	4	0	2	3	2	0	2	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:31587582C>T	ENST00000399899.1	-	1	809	c.662G>A	c.(661-663)aGa>aAa	p.R221K	CLDN8_ENST00000286809.1_Missense_Mutation_p.R221K	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	221					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						ATACTGACTTCTGGAGTAGAC	0.383													30	105					0	0	0	0	T	31587582	C	T	31587582	3	4	489	1	0	0	0	0	1	0	0	0	3521	913	32	2	19	2	CLDN8	21	31587582	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1173249	31587582	16542313	673	94785											
PDE9A	5152	broad.mit.edu	37	chr21	44152179	44152179	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttcttctttggtttgtaGagagagaagaattaatccag	11	16	9	5	0	3	3	0	0	3	3	4	5	4	3	1	1	0	2	1	1	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:44152179G>C	ENST00000291539.6	+	6	502		c.e6-1		PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000380328.2_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TTGGTTTGTAGAGAGAGAAGA	0.507													10	48					0	0	0	0	C	44152179	G	C	44152179	5	2	489	1	0	0	0	0	0	0	1	0	11726	956	33	2	544	2	PDE9A	21	44152179	Splice_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	12564597	44152179	3977716	674	94786											
GAB4	128954	broad.mit.edu	37	chr22	17446136	17446136	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatgaccctgttgtttctCaggttgggcggtgttgggtt	3	17	15	6	1	1	2	1	2	1	0	2	2	1	2	1	4	0	5	1	4	0	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:17446136C>G	ENST00000400588.1	-	7	1418	c.1311G>C	c.(1309-1311)ctG>ctC	p.L437L		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	437										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGTTGTTTCTCAGGTTGGGCG	0.547													16	47					0	0	0	0	G	17446136	C	G	17446136	2	3	489	1	0	0	0	0	0	0	0	1	6199	813	29	2		2	GAB4	22	17446136	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08		17446136	33858430	675	94787											
KLHL22	84861	broad.mit.edu	37	chr22	20796566	20796566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcagtccttctccacatCgtaaatgtgcacgtagcctg	9	10	8	14	2	1	0	0	0	1	0	4	0	2	0	4	0	3	4	4	0	3	3	rs139279490		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:20796566C>T	ENST00000328879.4	-	7	1855	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	KLHL22_ENST00000440659.2_Missense_Mutation_p.D424N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	567					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTCTCCACATCGTAAATGTGC	0.622													14	40					0	0	0	0	T	20796566	C	T	20796566	3	4	489	1	0	0	0	0	1	0	0	0	8429	884	31	1	209	1	KLHL22	22	20796566	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3350430	20796566	30508000	676	94788											
MAPK1	5594	broad.mit.edu	37	chr22	22162014	22162014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgattccaatgatgttctCatgtctgaagcgcagtaaga	12	13	9	7	1	2	4	1	3	2	1	4	4	3	4	1	0	1	3	1	0	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:22162014C>T	ENST00000215832.6	-	2	429	c.241G>A	c.(241-243)Gag>Aag	p.E81K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E81K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E81K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	81	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	ATGATGTTCTCATGTCTGAAG	0.438													30	103					0	0	0	0	T	22162014	C	T	22162014	3	4	489	1	0	0	0	0	1	0	0	0	9340	835	29	2	869	2	MAPK1	22	22162014	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1365448	22162014	29142552	677	94789											
ADORA2A	135	broad.mit.edu	37	chr22	24837220	24837220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagtgacggagagcaggtCagcctccgtctcaacggcca	9	5	14	13	3	2	2	2	1	1	1	4	3	3	2	3	4	3	2	3	4	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:24837220C>T	ENST00000337539.7	+	3	1461	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	334					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GAGAGCAGGTCAGCCTCCGTC	0.647													4	19					0	0	0	0	T	24837220	C	T	24837220	2	4	489	1	0	0	0	0	0	0	0	1	327	813	29	2		2	ADORA2A	22	24837220	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2675206	24837220	26467346	678	94790											
GGT1	2678	broad.mit.edu	37	chr22	25023940	25023940	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgccaatttcatcCagccaggtatggggtggagg	8	9	12	12	0	2	0	2	0	0	0	3	1	3	1	5	5	2	1	5	5	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:25023940C>T	ENST00000400382.1	+	13	2085	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	GGT1_ENST00000404223.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Nonsense_Mutation_p.Q444*|GGT1_ENST00000406383.2_Nonsense_Mutation_p.Q444*|GGT1_ENST00000404920.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000403838.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000401885.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000248923.4_Nonsense_Mutation_p.Q444*|GGT1_ENST00000400383.1_Nonsense_Mutation_p.Q444*|GGT1_ENST00000404532.1_Nonsense_Mutation_p.Q100*			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	444					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CAATTTCATCCAGCCAGGTAT	0.622													32	96					0	0	0	0	T	25023940	C	T	25023940	4	4	489	1	0	0	0	0	0	1	0	0	6412	595	21	4	1364	4	GGT1	22	25023940	Nonsense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	186720	25023940	26280626	679	94791											
SGSM1	129049	broad.mit.edu	37	chr22	25294145	25294145	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtgtcttggacgcccagcgGaacacccccacggtgctgcg	7	6	13	15	4	1	0	0	0	1	0	1	2	1	2	3	3	4	1	3	3	1	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:25294145G>C	ENST00000400358.4	+	19	2286	c.2229G>C	c.(2227-2229)cgG>cgC	p.R743R	SGSM1_ENST00000400359.4_Silent_p.R798R	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	798	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACGCCCAGCGGAACACCCCCA	0.627													8	48					0	0	0	0	C	25294145	G	C	25294145	2	2	489	1	0	0	0	0	0	0	0	1	14309	1161	41	2		2	SGSM1	22	25294145	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	270205	25294145	26010421	680	94792											
RFPL1	5988	broad.mit.edu	37	chr22	29834886	29834886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggctgcactcttccaaGaagcaagcagctgtcccgtc	10	8	9	14	1	1	1	0	0	1	1	4	1	3	1	2	1	4	5	2	1	3	1			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:29834886G>A	ENST00000354373.2	+	1	315	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	36							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ACTCTTCCAAGAAGCAAGCAG	0.493													48	118					0	0	0	0	A	29834886	G	A	29834886	3	1	489	1	0	0	0	0	1	0	0	0	13335	943	33	2	108	2	RFPL1	22	29834886	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4540741	29834886	21469680	681	94793											
LIMK2	3985	broad.mit.edu	37	chr22	31674305	31674305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcattctcgaaattggagGactcctttgaggccctctcc	8	11	9	13	1	2	1	0	1	2	0	5	4	3	3	3	3	1	1	3	3	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:31674305G>A	ENST00000331728.4	+	16	1909	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	LIMK2_ENST00000333611.4_Missense_Mutation_p.D578N|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000444929.2_Missense_Mutation_p.D353N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	599	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAAATTGGAGGACTCCTTTGA	0.572													6	345					0	0	0	0	A	31674305	G	A	31674305	3	1	489	1	0	0	0	0	1	0	0	0	8856	1174	41	2	2270	2	LIMK2	22	31674305	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	1839419	31674305	19630261	682	94794											
DEPDC5	9681	broad.mit.edu	37	chr22	32239777	32239777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttagatcagtatatctgttCtgccggctctgaagacttca	9	14	8	10	1	5	3	2	1	3	2	5	3	5	3	1	1	1	3	1	1	4	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:32239777C>G	ENST00000400246.1	+	29	2922	c.2780C>G	c.(2779-2781)tCt>tGt	p.S927C	DEPDC5_ENST00000266091.3_Missense_Mutation_p.S927C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S849C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S849C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S927C|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S918C|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S918C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S918C			O75140	DEPD5_HUMAN	DEP domain containing 5	918					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TATATCTGTTCTGCCGGCTCT	0.483													15	41					0	0	0	0	G	32239777	C	G	32239777	3	3	489	1	0	0	0	0	1	0	0	0	4479	913	32	2	2881	2	DEPDC5	22	32239777	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	565472	32239777	19064789	683	94795											
TOM1	10043	broad.mit.edu	37	chr22	35729424	35729424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggccgagccggcagctGacctgatcgacatgggccct	7	6	15	13	3	0	3	0	3	0	0	1	5	0	3	4	3	2	2	4	3	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:35729424G>A	ENST00000411850.1	+	10	1086	c.961G>A	c.(961-963)Gac>Aac	p.D321N	TOM1_ENST00000425375.1_Missense_Mutation_p.D276N|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000449058.2_Missense_Mutation_p.D321N|TOM1_ENST00000436462.2_Missense_Mutation_p.D283N|TOM1_ENST00000447733.1_Missense_Mutation_p.D288N	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	321					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GCCGGCAGCTGACCTGATCGA	0.622													11	31					0	0	0	0	A	35729424	G	A	35729424	3	1	489	1	0	0	0	0	1	0	0	0	16445	1290	45	2	999	2	TOM1	22	35729424	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3489647	35729424	15575142	684	94796											
CACNA1I	8911	broad.mit.edu	37	chr22	40037145	40037145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacccccacaagggtgccatCaactttgacaacatcggtta	13	8	7	13	1	1	1	1	1	0	0	2	1	1	1	3	2	4	1	3	2	5	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:40037145C>G	ENST00000336649.4	+	8	1014	c.1014C>G	c.(1012-1014)atC>atG	p.I338M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.I338M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000402142.3_Missense_Mutation_p.I338M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	338					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGGGTGCCATCAACTTTGACA	0.602													14	68					0	0	0	0	G	40037145	C	G	40037145	3	3	489	1	0	0	0	0	1	0	0	0	2571	816	29	2	1036	2	CACNA1I	22	40037145	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	4307721	40037145	11267421	685	94797											
SCUBE1	80274	broad.mit.edu	37	chr22	43606202	43606202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagggtagttgggggactCgatgtagccggtgtagtcac	7	9	17	8	2	1	0	1	0	0	0	2	2	1	1	2	4	1	4	2	4	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:43606202C>T	ENST00000360835.3	-	19	2554	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	810	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TTGGGGGACTCGATGTAGCCG	0.657													6	40					0	0	0	0	T	43606202	C	T	43606202	3	4	489	1	0	0	0	0	1	0	0	0	14031	893	31	1	554	1	SCUBE1	22	43606202	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	3569057	43606202	7698364	686	94798											
FAM118A	55007	broad.mit.edu	37	chr22	45719278	45719278	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccgggacctgttggttgtCgcccatgatctgatccggaa	7	10	13	11	3	1	2	0	2	1	0	3	5	2	4	4	3	0	2	4	3	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:45719278C>T	ENST00000216214.3	+	4	1104	c.270C>T	c.(268-270)gtC>gtT	p.V90V	FAM118A_ENST00000441876.2_Silent_p.V90V|FAM118A_ENST00000405673.1_Silent_p.V90V	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	90						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGTTGGTTGTCGCCCATGATC	0.572													19	58					0	0	0	0	T	45719278	C	T	45719278	2	4	489	1	0	0	0	0	0	0	0	1	5452	871	31	1		1	FAM118A	22	45719278	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	2113076	45719278	5585288	687	94799											
CELSR1	9620	broad.mit.edu	37	chr22	46931067	46931067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacgctggtggaggagctCatggggggcgagccgtggtc	6	6	20	9	3	1	0	1	0	0	0	2	4	1	2	1	7	2	2	1	7	0	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:46931067C>T	ENST00000262738.3	-	1	2000	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	CELSR1_ENST00000395964.1_Missense_Mutation_p.M667I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	667	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGAGGAGCTCATGGGGGGCG	0.637													3	20					0	0	0	0	T	46931067	C	T	46931067	3	4	489	1	0	0	0	0	1	0	0	0	3250	826	29	2	7183	2	CELSR1	22	46931067	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1211789	46931067	4373499	688	94800											
ZBED4	9889	broad.mit.edu	37	chr22	50278454	50278454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagtaaagccggtcagaGagtccccttcggcctcctcc	7	8	9	17	2	1	1	1	0	0	1	6	2	5	1	7	2	1	1	7	2	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50278454G>A	ENST00000216268.4	+	2	1621	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	382						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGTCAGAGAGTCCCCTTC	0.632													16	56					0	0	0	0	A	50278454	G	A	50278454	3	1	489	1	0	0	0	0	1	0	0	0	17615	943	33	2	1146	2	ZBED4	22	50278454	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	3347387	50278454	1026112	689	94801											
SBF1	6305	broad.mit.edu	37	chr22	50903084	50903084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgccctcatccagccggggGaagggtcggggcacccgtcg	5	5	17	14	4	1	0	1	0	0	0	4	1	2	1	4	5	2	1	4	5	1	0			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50903084G>A	ENST00000380817.2	-	14	1698	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	SBF1_ENST00000390679.3_Silent_p.F505F|SBF1_ENST00000348911.6_Silent_p.F506F	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	505					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCCGGGGGAAGGGTCGGG	0.682													10	68					0	0	0	0	A	50903084	G	A	50903084	2	1	489	1	0	0	0	0	0	0	0	1	13944	1165	41	2		2	SBF1	22	50903084	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	624630	50903084	401482	690	94802											
MIOX	55586	broad.mit.edu	37	chr22	50928244	50928244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgcggccctactaccagGggctcattgacaagtactgc	9	8	11	13	1	1	1	1	1	0	0	1	1	1	1	2	3	6	3	2	3	4	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50928244G>A	ENST00000395732.3	+	10	825	c.803G>A	c.(802-804)gGg>gAg	p.G268E	MIOX_ENST00000395733.3_Missense_Mutation_p.G229E|MIOX_ENST00000216075.6_Missense_Mutation_p.G273R			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	0					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTACTACCAGGGGCTCATTGA	0.657													17	63					0	0	0	0	A	50928244	G	A	50928244	3	1	489	1	0	0	0	0	1	0	0	0	9659	1232	43	4	855	4	MIOX	22	50928244	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	25160	50928244	376322	691	94803											
ARSE	415	broad.mit.edu	37	chrX	2873522	2873522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgcacaaagatgcggcaGagatgtgttgggtcagcttc	9	9	16	7	1	1	2	1	0	0	2	2	3	1	2	0	3	3	4	0	3	1	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:2873522G>A	ENST00000545496.1	-	5	608	c.317C>T	c.(316-318)tCt>tTt	p.S106F	ARSE_ENST00000381134.3_Missense_Mutation_p.S81F|ARSE_ENST00000540563.1_Missense_Mutation_p.S36F			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	81					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGATGCGGCAGAGATGTGTTG	0.517													15	23					0	0	0	0	A	2873522	G	A	2873522	3	1	489	1	0	0	0	0	1	0	0	0	994	942	33	2	1559	2	ARSE	23	2873522	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08		2873522	152397038	692	94804											
VCX3B	425054	broad.mit.edu	37	chrX	8433467	8433467	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggagttagtcgaccGttgcgagacgttgagctgcg	7	9	15	10	5	0	2	0	1	0	1	1	5	0	3	2	1	4	4	2	1	1	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:8433467G>A	ENST00000381032.1	+	0	283				VCX3B_ENST00000453306.1_De_novo_Start_InFrame|VCX3B_ENST00000381029.4_5'UTR|VCX3B_ENST00000440654.2_De_novo_Start_InFrame|VCX3B_ENST00000444481.1_De_novo_Start_InFrame	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B							nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						TTAGTCGACCGTTGCGAGACG	0.597													3	15					0	0	0	0	A	8433467	G	A	8433467	1	1	489	1	0	0	0	0	0	0	0	0	17241	1160	40	1		1	VCX3B	23	8433467	Translation_Start_Site	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	5559945	8433467	146837093	693	94805											
TLR7	51284	broad.mit.edu	37	chrX	12905259	12905259	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaacctttagcagagctGagatatttggacttctccaa	11	13	7	10	0	1	2	0	1	1	2	3	4	2	3	3	1	3	2	3	1	4	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:12905259G>C	ENST00000380659.3	+	3	1771	c.1632G>C	c.(1630-1632)ctG>ctC	p.L544L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	544					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TAGCAGAGCTGAGATATTTGG	0.403													5	269					0	0	0	0	C	12905259	G	C	12905259	2	2	489	1	0	0	0	0	0	0	0	1	16050	1277	45	2		2	TLR7	23	12905259	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	4471792	12905259	142365301	694	94806											
SAT1	6303	broad.mit.edu	37	chrX	23802146	23802147	+	Frame_Shift_Ins	INS	-	-	A																															aagtgttcaaactactgaggINSaaaaaaaaaaattagatatg																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:23802146_23802147insA	ENST00000379253.3	+	3	527_528	c.348_349insA	c.(346-351)agaaaafs	p.RK116fs	SAT1_ENST00000379270.4_Intron|SAT1_ENST00000489394.1_Intron|SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379251.3_Frame_Shift_Ins_p.RK146fs			P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	p.N150fs*13(3)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	AACTACTGAGGAAAAAAAAAAA	0.396													2	4	---	---	---	---					A	23802147	-	A	23802146	7	5	489	1	0	1	1	0	0	0	0	0	13937	1189	41	0		0	SAT1	23	23802146	Frame_Shift_Ins	INS	-	TCGA-TN-A7HL-01A-11D-A34J-08	10896887	23802146	131468414	695	94807											
DDX3X	1654	broad.mit.edu	37	chrX	41205605	41205605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccgttctcagagggataGagaagaggcccttcaccagt	12	7	12	10	1	2	4	2	0	1	4	3	6	2	5	3	2	0	1	3	2	2	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41205605G>C	ENST00000399959.2	+	13	2294	c.1439G>C	c.(1438-1440)aGa>aCa	p.R480T	DDX3X_ENST00000457138.2_Missense_Mutation_p.R464T|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	480	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CAGAGGGATAGAGAAGAGGCC	0.433										HNSCC(61;0.18)			25	36					0	0	0	0	C	41205605	G	C	41205605	3	2	489	1	0	0	0	0	1	0	0	0	4390	942	33	2	1489	2	DDX3X	23	41205605	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	17403459	41205605	114064955	696	94808											
DDX3X	1654	broad.mit.edu	37	chrX	41205821	41205821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaattttgacttgccaagtGatattgaagaatatgtacat	14	15	7	5	0	1	4	1	3	0	1	1	4	1	4	1	0	2	1	1	0	7	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41205821G>C	ENST00000399959.2	+	14	2416	c.1561G>C	c.(1561-1563)Gat>Cat	p.D521H	DDX3X_ENST00000457138.2_Missense_Mutation_p.D505H|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	521	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTGCCAAGTGATATTGAAGA	0.363										HNSCC(61;0.18)			36	62					0	0	0	0	C	41205821	G	C	41205821	3	2	489	1	0	0	0	0	1	0	0	0	4390	1290	45	2	1615	2	DDX3X	23	41205821	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	216	41205821	114064739	697	94809											
CASK	8573	broad.mit.edu	37	chrX	41379816	41379816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgttctctgtaagatgtCagactccttctgcagacgct	9	14	8	10	1	3	3	1	0	2	3	5	3	4	3	1	0	1	4	1	0	2	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41379816C>G	ENST00000318588.9	-	27	2668	c.2623G>C	c.(2623-2625)Gac>Cac	p.D875H	CASK-AS1_ENST00000451126.1_RNA|CASK_ENST00000442742.2_Missense_Mutation_p.D852H|CASK_ENST00000361962.4_Missense_Mutation_p.D863H|CASK_ENST00000421587.2_Missense_Mutation_p.D851H|CASK_ENST00000378158.1_Missense_Mutation_p.D863H|CASK_ENST00000378163.1_Missense_Mutation_p.D880H|CASK_ENST00000378166.4_Missense_Mutation_p.D875H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	880	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGTAAGATGTCAGACTCCTTC	0.438													24	38					0	0	0	0	G	41379816	C	G	41379816	3	3	489	1	0	0	0	0	1	0	0	0	2690	826	29	2	146	2	CASK	23	41379816	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	173995	41379816	113890744	698	94810											
ZNF630	57232	broad.mit.edu	37	chrX	47920202	47920202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaatctgcccttacccacGgagaccaggtgattataggt	10	9	12	10	1	1	2	0	1	1	1	1	4	1	3	3	4	2	0	3	4	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:47920202G>A	ENST00000442455.3	-	3	439	c.96C>T	c.(94-96)tcC>tcT	p.S32S	ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000409324.3_Silent_p.S46S|ZNF630-AS1_ENST00000436124.1_RNA	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCTTACCCACGGAGACCAGGT	0.473													15	10					0	0	0	0	A	47920202	G	A	47920202	2	1	489	1	0	0	0	0	0	0	0	1	18149	1103	39	1		1	ZNF630	23	47920202	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6540386	47920202	107350358	699	94811											
GRIPAP1	56850	broad.mit.edu	37	chrX	48846043	48846043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgattggcagcctcaagttCctgctgcagcttctgggttc	5	13	11	12	0	2	1	1	1	1	0	4	1	3	1	2	2	4	6	2	2	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:48846043C>T	ENST00000376423.4	-	10	723	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E284K|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E284K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E239K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	284						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GCCTCAAGTTCCTGCTGCAGC	0.572													21	21					0	0	0	0	T	48846043	C	T	48846043	3	4	489	1	0	0	0	0	1	0	0	0	6839	864	30	2	1793	2	GRIPAP1	23	48846043	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	925841	48846043	106424517	700	94812											
GRIPAP1	56850	broad.mit.edu	37	chrX	48846091	48846091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggctttgtgatcagcttCcttccgttgttgtaattcct	4	18	9	10	1	1	1	1	1	0	0	4	1	4	1	3	1	1	5	3	1	1	7			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:48846091C>T	ENST00000376423.4	-	10	675	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E268K|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E268K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E223K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	268						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGATCAGCTTCCTTCCGTTGT	0.552													22	22					0	0	0	0	T	48846091	C	T	48846091	3	4	489	1	0	0	0	0	1	0	0	0	6839	864	30	2	1841	2	GRIPAP1	23	48846091	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	48	48846091	106424469	701	94813											
DGKK	139189	broad.mit.edu	37	chrX	50165507	50165507	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcttgagacagatcaatCgtttcaaagtgtgcaaactg	12	11	11	7	1	2	2	2	1	0	2	3	3	2	2	0	1	2	3	0	1	3	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50165507C>T	ENST00000376025.2	-	0	833							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACAGATCAATCGTTTCAAAGT	0.428													19	22					0	0	0	0	T	50165507	C	T	50165507	1	4	489	0	1	0	0	0	0	0	0	0	4509	871	31	1		1	DGKK	23	50165507	RNA	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	1319416	50165507	105105053	702	94814											
SHROOM4	57477	broad.mit.edu	37	chrX	50377158	50377158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttacatgaagatagaaGagatgtgttagaggcagtga	14	13	12	2	0	0	6	0	2	0	4	0	7	0	6	0	1	1	2	0	1	5	5			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50377158G>C	ENST00000376020.2	-	4	1940	c.1915C>G	c.(1915-1917)Ctt>Gtt	p.L639V	SHROOM4_ENST00000289292.7_Missense_Mutation_p.L639V|SHROOM4_ENST00000460112.3_Missense_Mutation_p.L523V	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	639					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAAGATAGAAGAGATGTGTTA	0.527													18	15					0	0	0	0	C	50377158	G	C	50377158	3	2	489	1	0	0	0	0	1	0	0	0	14384	942	33	2	2590	2	SHROOM4	23	50377158	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	211651	50377158	104893402	703	94815											
BMP15	9210	broad.mit.edu	37	chrX	50659224	50659224	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaatctcttctccggagaAcccgacaagcagatggtatc	11	8	11	11	2	2	2	0	0	2	2	5	5	2	3	2	3	2	2	2	3	4	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50659224A>C	ENST00000252677.3	+	2	796	c.796A>C	c.(796-798)Acc>Ccc	p.T266P		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	266					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCTCCGGAGAACCCGACAAGC	0.463													15	16					0	0	0	0	C	50659224	A	C	50659224	3	2	489	1	0	0	0	0	1	0	0	0	1463	43	2	5	802	5	BMP15	23	50659224	Missense_Mutation	SNP	A	TCGA-TN-A7HL-01A-11D-A34J-08	282066	50659224	104611336	704	94816											
PABPC5	140886	broad.mit.edu	37	chrX	90691441	90691441	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagttgaggcggagatttGaacggctgaggttaaaagaa	13	9	15	4	2	0	6	0	4	0	2	0	7	0	6	0	4	1	3	0	4	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:90691441G>C	ENST00000312600.3	+	2	1079	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	PABPC5_ENST00000373105.1_Missense_Mutation_p.E125Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	289						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GCGGAGATTTGAACGGCTGAG	0.448													12	23					0	0	0	0	C	90691441	G	C	90691441	3	2	489	1	0	0	0	0	1	0	0	0	11438	1291	45	2	867	2	PABPC5	23	90691441	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	40032217	90691441	64579119	705	94817											
HNRNPH2	3188	broad.mit.edu	37	chrX	100668237	100668237	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgagtggtggttatGgaggtggttatggtggtcag	7	12	19	3	0	1	1	1	1	0	0	1	2	1	2	0	7	2	4	0	7	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:100668237G>T	ENST00000316594.5	+	2	1339	c.1261G>T	c.(1261-1263)Gga>Tga	p.G421*		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	421	2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TGGTGGTTATGGAGGTGGTTA	0.493													103	99					2.70572e-37	2.91105e-37	1	0	T	100668237	G	T	100668237	4	4	489	1	0	0	0	0	0	1	0	0	7317	1349	47	4	1263	4	HNRNPH2	23	100668237	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	9976796	100668237	54602323	706	94818											
TCEAL6	158931	broad.mit.edu	37	chrX	101396021	101396021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcttttcggcggcccGcggctggccctctggctttg	0	10	16	15	6	1	0	0	0	1	0	2	0	1	0	2	6	0	3	2	6	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:101396021G>A	ENST00000372774.3	-	3	532	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R95W	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R95W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCGGCGGCCCGCGGCTGGCCC	0.612													41	62					0	0	0	0	A	101396021	G	A	101396021	3	1	489	1	0	0	0	0	1	0	0	0	15769	1086	38	1	272	1	TCEAL6	23	101396021	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	727784	101396021	53874539	707	94819											
GPRASP1	9737	broad.mit.edu	37	chrX	101909468	101909468	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggagtggagatgaggtCactgcaaaatttcatcctgg	10	12	12	7	0	3	2	2	1	1	1	4	4	4	3	1	4	1	1	1	4	2	2			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:101909468C>G	ENST00000537097.1	+	6	1440	c.627C>G	c.(625-627)gtC>gtG	p.V209V	GPRASP1_ENST00000361600.5_Silent_p.V209V|GPRASP1_ENST00000444152.1_Silent_p.V209V|GPRASP1_ENST00000415986.1_Silent_p.V209V|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	209						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGATGAGGTCACTGCAAAAT	0.443													58	74					0	0	0	0	G	101909468	C	G	101909468	2	3	489	1	0	0	0	0	0	0	0	1	6772	813	29	2		2	GPRASP1	23	101909468	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	513447	101909468	53361092	708	94820											
IRS4	8471	broad.mit.edu	37	chrX	107977794	107977794	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggatcctttcccacttcctGagcctttgccccccccagag	5	10	7	19	1	0	2	0	1	0	1	3	3	3	3	8	1	2	0	8	1	0	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:107977794G>C	ENST00000372129.2	-	1	1857	c.1781C>G	c.(1780-1782)tCa>tGa	p.S594*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	594						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCCACTTCCTGAGCCTTTGCC	0.537													66	91					0	0	0	0	C	107977794	G	C	107977794	4	2	489	1	0	0	0	0	0	1	0	0	7895	1294	45	2	1996	2	IRS4	23	107977794	Nonsense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	6068326	107977794	47292766	709	94821											
DCX	1641	broad.mit.edu	37	chrX	110644281	110644281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagtttgatggcttctgtGatatcagtgaggacttgctc	7	15	11	8	0	2	3	1	3	1	0	4	4	3	4	1	2	1	3	1	2	1	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:110644281G>C	ENST00000338081.3	-	3	1056	c.885C>G	c.(883-885)atC>atG	p.I295M	DCX_ENST00000356915.2_Missense_Mutation_p.I214M|DCX_ENST00000356220.3_Missense_Mutation_p.I214M|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.I214M|DCX_ENST00000371993.2_Missense_Mutation_p.I214M	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	295	Doublecortin 2.		I -> T (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGGCTTCTGTGATATCAGTGA	0.468													37	54					0	0	0	0	C	110644281	G	C	110644281	3	2	489	1	0	0	0	0	1	0	0	0	4350	1280	45	2	475	2	DCX	23	110644281	Missense_Mutation	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	2666487	110644281	44626279	710	94822											
TRPC5	7224	broad.mit.edu	37	chrX	111019937	111019937	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataggagacccagtttcttGagagaaggacccatgaagga	15	7	12	7	0	1	4	0	2	1	2	1	8	1	6	2	3	0	1	2	3	4	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:111019937G>C	ENST00000262839.2	-	11	3444	c.2526C>G	c.(2524-2526)ctC>ctG	p.L842L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	842					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGTTTCTTGAGAGAAGGAC	0.463													52	68					0	0	0	0	C	111019937	G	C	111019937	2	2	489	1	0	0	0	0	0	0	0	1	16677	1277	45	2		2	TRPC5	23	111019937	Silent	SNP	G	TCGA-TN-A7HL-01A-11D-A34J-08	375656	111019937	44250623	711	94823											
XPNPEP2	7512	broad.mit.edu	37	chrX	128885796	128885796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgctgctcacagactcttCtattaggtatggcttttcct	7	15	7	12	1	3	1	1	0	2	1	4	1	4	1	1	2	1	4	1	2	3	6			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:128885796C>T	ENST00000371106.3	+	9	1007	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	272					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ACAGACTCTTCTATTAGGTAT	0.483													65	65					0	0	0	0	T	128885796	C	T	128885796	3	4	489	1	0	0	0	0	1	0	0	0	17539	913	32	2	849	2	XPNPEP2	23	128885796	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	17865859	128885796	26384764	712	94824											
GPR112	139378	broad.mit.edu	37	chrX	135429620	135429620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagttggtgactagcacctCtgtcttatcttccgacaaag	9	12	8	12	1	3	1	0	1	3	0	4	2	4	1	3	1	1	2	3	1	3	4			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:135429620C>G	ENST00000394143.1	+	6	4046	c.3755C>G	c.(3754-3756)tCt>tGt	p.S1252C	GPR112_ENST00000370652.1_Missense_Mutation_p.S1252C|GPR112_ENST00000287534.4_Missense_Mutation_p.S1189C|GPR112_ENST00000412101.1_Missense_Mutation_p.S1047C|GPR112_ENST00000394141.1_Missense_Mutation_p.S1047C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1252					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTAGCACCTCTGTCTTATCT	0.428													40	46					0	0	0	0	G	135429620	C	G	135429620	3	3	489	1	0	0	0	0	1	0	0	0	6678	913	32	2	3765	2	GPR112	23	135429620	Missense_Mutation	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	6543824	135429620	19840940	713	94825											
MAGEC3	139081	broad.mit.edu	37	chrX	140984806	140984806	+	Frame_Shift_Del	DEL	C	C	-																															tcctctagactcctgctcatCccctcttttgtggacccgat																										TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:140984806delC	ENST00000298296.1	+	7	1262	c.1262delC	c.(1261-1263)tcfs	p.S421fs	MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.S43fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	421										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGCTCATCCCCTCTTTTG	0.572													8	12	---	---	---	---					-	140984806	C	-	140984806	7	5	489	1	0	1	0	1	0	0	0	0	9251	855	30	0	1517	0	MAGEC3	23	140984806	Frame_Shift_Del	DEL	C	TCGA-TN-A7HL-01A-11D-A34J-08	5555186	140984806	14285754	714	94826											
GPR50	9248	broad.mit.edu	37	chrX	150348595	150348595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcacctacacctgcatcttCaactatctgaacaaccctgt	11	10	4	16	1	3	1	1	1	2	0	3	1	3	1	3	0	5	2	3	0	5	3			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:150348595C>T	ENST00000218316.3	+	2	609	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	180					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCATCTTCAACTATCTGA	0.527													42	39					0	0	0	0	T	150348595	C	T	150348595	2	4	489	1	0	0	0	0	0	0	0	1	6746	825	29	2		2	GPR50	23	150348595	Silent	SNP	C	TCGA-TN-A7HL-01A-11D-A34J-08	9363789	150348595	4921965	715	94827											
UBE4B	10277	broad.mit.edu	37	chr1	10197129	10197129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttatttttcctagatggCgatcagcctccattttctga	8	17	7	9	1	2	2	1	1	1	1	4	3	4	2	3	1	1	1	3	1	2	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:10197129C>T	ENST00000377157.3	+	16	2555	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	UBE4B_ENST00000253251.8_Silent_p.G614G|UBE4B_ENST00000343090.6_Silent_p.G743G	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	743					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCCTAGATGGCGATCAGCCTC	0.393													9	216					0	0	0	0	T	10197129	C	T	10197129	2	4	490	1	0	0	0	0	0	0	0	1	16979	755	27	1		1	UBE4B	1	10197129	Silent	SNP	C	TCGA-UF-A718-01A-22D-A34J-08		10197129	239053492	1	94828											
THRAP3	9967	broad.mit.edu	37	chr1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgagttgaatcttctaagcGcaagtctgcaaaggagaaaa	15	8	10	8	2	3	2	0	1	3	1	3	4	3	2	1	1	2	3	1	1	6	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517			T	USP6	aneurysmal bone cysts								6	517					0	0	0	0	A	36752352	G	A	36752352	3	1	490	1	0	0	0	0	1	0	0	0	15968	1087	38	1	527	1	THRAP3	1	36752352	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	26555223	36752352	212498269	2	94829											
HFM1	164045	broad.mit.edu	37	chr1	91781406	91781406	+	Missense_Mutation	SNP	C	C	A																															ataaactacttgattatctgCgtcacctatgattaaggtaa																										TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:91781406C>A	ENST00000370425.3	-	28	3204	c.3106G>T	c.(3106-3108)Gca>Tca	p.A1036S	HFM1_ENST00000370424.3_Missense_Mutation_p.A715S|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.A268S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1036	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGATTATCTGCGTCACCTATG	0.308													17	74					1.15088e-07	1.20842e-07	1	0	A	91781406	C	A	91781406	3	1	490	1	0	0	0	0	1	0	0	0	7133	768	27	3	1249	3	HFM1	1	91781406	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	55029054	91781406	157469215	3	94830	1131	2									
HFM1	164045	broad.mit.edu	37	chr1	91781407	91781407	+	Missense_Mutation	SNP	G	G	T																															taaactacttgattatctgcGtcacctatgattaaggtaac																										TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:91781407G>T	ENST00000370425.3	-	28	3203	c.3105C>A	c.(3103-3105)gaC>gaA	p.D1035E	HFM1_ENST00000370424.3_Missense_Mutation_p.D714E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.D267E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1035	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.D1035D(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GATTATCTGCGTCACCTATGA	0.313													16	73					6.31663e-08	6.69945e-08	1	0	T	91781407	G	T	91781407	3	4	490	1	0	0	0	0	1	0	0	0	7133	1136	40	3	1250	3	HFM1	1	91781407	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	1	91781407	157469214	4	94831	1131	2									
DPH5	51611	broad.mit.edu	37	chr1	101456040	101456040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagcatctccatctccattGgatgtatgctgcctcctgtg	6	15	8	12	0	2	0	0	0	2	0	5	1	3	1	4	1	3	3	4	1	2	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:101456040G>A	ENST00000593496.1	+	1	280	c.34G>A	c.(34-36)Gga>Aga	p.G12R	DPH5_ENST00000488176.1_Missense_Mutation_p.P261L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.P260L|DPH5_ENST00000370109.3_Missense_Mutation_p.P261L|DPH5_ENST00000427040.2_Missense_Mutation_p.P22L																							CATCTCCATTGGATGTATGCT	0.423													49	180					0	0	0	0	A	101456040	G	A	101456040	3	1	490	1	0	0	0	0	1	0	0	0	4759	1348	47	4	79	4	DPH5	1	101456040	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	9674633	101456040	147794581	5	94832											
PDE4DIP	9659	broad.mit.edu	37	chr1	144881472	144881472	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctcgttagcctgagcaaAgacagtggcttctgatagca	11	9	11	10	1	1	3	0	2	1	1	2	3	1	3	1	1	4	5	1	1	3	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:144881472A>C	ENST00000369359.4	-	28	4173	c.4135T>G	c.(4135-4137)Ttt>Gtt	p.F1379V	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.F1242V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.F1242V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.F1379V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.F1198V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1242					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCTGAGCAAAGACAGTGGCT	0.453			T	PDGFRB	MPD								73	484					0	0	0	0	C	144881472	A	C	144881472	3	2	490	1	0	0	0	0	1	0	0	0	11714	72	3	5	3396	5	PDE4DIP	1	144881472	Missense_Mutation	SNP	A	TCGA-UF-A718-01A-22D-A34J-08	43425432	144881472	104369149	6	94833											
ADAR	103	broad.mit.edu	37	chr1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgcgaccctccccccAccctcccccaccacgtagcc	5	3	7	26	4	0	0	0	0	0	0	2	1	2	0	10	1	1	1	10	1	1	1			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_Intron	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642													7	50					0	0	0	0	C	154600401	A	C	154600401	3	2	490	1	0	0	0	0	1	0	0	0	281	174	6	5		5	ADAR	1	154600401	Missense_Mutation	SNP	A	TCGA-UF-A718-01A-22D-A34J-08	9718929	154600401	94650220	7	94834											
CENPL	91687	broad.mit.edu	37	chr1	173772306	173772306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctggatgtattgcgaaaGaaatgtccagactttgaggg	11	11	12	7	1	1	3	0	1	1	2	2	5	2	4	2	2	1	1	2	2	3	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:173772306G>C	ENST00000356198.2	-	6	1181	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CENPL_ENST00000367710.3_Missense_Mutation_p.S253C|CENPL_ENST00000345664.6_Missense_Mutation_p.S253C	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	253					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TATTGCGAAAGAAATGTCCAG	0.468													23	100					0	0	0	0	C	173772306	G	C	173772306	3	2	490	1	0	0	0	0	1	0	0	0	3265	942	33	2	284	2	CENPL	1	173772306	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	19171905	173772306	75478315	8	94835											
DARS2	55157	broad.mit.edu	37	chr1	173795824	173795824	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttttttttttttttaaaGaattcagtagctttgttgtc	7	26	5	3	0	1	1	1	0	0	1	2	1	1	1	0	0	1	3	0	0	4	13			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:173795824G>A	ENST00000361951.4	+	2	854		c.e2-1		DARS2_ENST00000239457.5_Splice_Site	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial						tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTTTTTTAAAGAATTCAGTAG	0.348													10	65					0	0	0	0	A	173795824	G	A	173795824	5	1	490	1	0	0	0	0	0	0	1	0	4275	956	33	2	133	2	DARS2	1	173795824	Splice_Site	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	23518	173795824	75454797	9	94836											
SMG7	9887	broad.mit.edu	37	chr1	183498656	183498656	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcttcgagagaaattggaAgaacagtttaaggttagatt	14	12	10	5	1	1	3	0	0	1	3	2	6	1	4	1	2	1	2	1	2	5	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:183498656A>C	ENST00000367537.3	+	9	1113	c.918A>C	c.(916-918)gaA>gaC	p.E306D	SMG7_ENST00000507469.1_Missense_Mutation_p.E277D|SMG7_ENST00000508461.1_Missense_Mutation_p.E235D|SMG7_ENST00000515829.2_Missense_Mutation_p.E277D|SMG7_ENST00000347615.2_Missense_Mutation_p.E277D|SMG7_ENST00000456731.2_Missense_Mutation_p.E235D			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	277					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGAAATTGGAAGAACAGTTTA	0.383													42	76					0	0	0	0	C	183498656	A	C	183498656	3	2	490	1	0	0	0	0	1	0	0	0	14886	69	3	5	861	5	SMG7	1	183498656	Missense_Mutation	SNP	A	TCGA-UF-A718-01A-22D-A34J-08	9702832	183498656	65751965	10	94837											
CR2	1380	broad.mit.edu	37	chr1	207646267	207646267	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcattggagagagcaccaTccgttgtacaagcaatgatc	12	9	9	11	1	1	2	1	1	0	1	3	4	2	3	3	1	3	4	3	1	3	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:207646267T>G	ENST00000367057.3	+	10	1910	c.1721T>G	c.(1720-1722)aTc>aGc	p.I574S	CR2_ENST00000458541.2_Missense_Mutation_p.I547S|CR2_ENST00000367059.3_Missense_Mutation_p.I574S|CR2_ENST00000367058.3_Missense_Mutation_p.I574S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	574	Sushi 9.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAGAGCACCATCCGTTGTACA	0.488													31	119					0	0	0	0	G	207646267	T	G	207646267	3	3	490	1	0	0	0	0	1	0	0	0	3872	1435	50	5	1759	5	CR2	1	207646267	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	24147611	207646267	41604354	11	94838											
C1orf65	164127	broad.mit.edu	37	chr1	223568370	223568370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagatccgacaggccaGgagtcacgtgcacaagacca	14	4	12	11	2	1	3	1	1	0	3	2	6	2	4	3	2	1	1	3	2	2	0			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:223568370G>T	ENST00000366875.3	+	1	1656	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	518										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CGACAGGCCAGGAGTCACGTG	0.577													6	156					0.00116845	0.00117968	1	0	T	223568370	G	T	223568370	3	4	490	1	0	0	0	0	1	0	0	0	2075	1000	35	4	1555	4	C1orf65	1	223568370	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	15922103	223568370	25682251	12	94839											
DNMT3A	1788	broad.mit.edu	37	chr2	25469931	25469931	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactcacctgcaggacctCgtagatggctttgcggtaca	9	9	11	12	2	1	1	1	0	0	1	2	3	1	2	2	3	3	4	2	3	2	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:25469931C>A	ENST00000264709.3	-	9	1448	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E182*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E371*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E148*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	371	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGGACCTCGTAGATGGCT	0.597			"Mis, F, N, S"		AML								13	29					1.5842e-08	1.69736e-08	1	0	A	25469931	C	A	25469931	4	1	490	1	0	0	0	0	0	1	0	0	4712	893	31	3	1687	3	DNMT3A	2	25469931	Nonsense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08		25469931	217729442	13	94840											
SLC35F5	80255	broad.mit.edu	37	chr2	114513046	114513046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccttgtcttaagagccCttctgagatcctcaagagca	10	12	7	12	0	4	3	1	1	3	3	5	4	5	3	3	0	3	1	3	0	3	4			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:114513046C>T	ENST00000245680.2	-	2	529	c.116G>A	c.(115-117)aGg>aAg	p.R39K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.R33K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	39					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CTTAAGAGCCCTTCTGAGATC	0.388													7	64					0	0	0	0	T	114513046	C	T	114513046	3	4	490	1	0	0	0	0	1	0	0	0	14680	681	24	4	1511	4	SLC35F5	2	114513046	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	89043115	114513046	128686327	14	94841											
LRP1B	53353	broad.mit.edu	37	chr2	141072574	141072574	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgacttcacatctttcTcctgaataactgggccaaca	10	13	7	11	0	3	2	1	2	2	0	4	2	3	2	2	2	2	1	2	2	3	4			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:141072574T>A	ENST00000389484.3	-	83	13706	c.12735A>T	c.(12733-12735)ggA>ggT	p.G4245G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4245	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATCTTTCTCCTGAATAAC	0.378										TSP Lung(27;0.18)			37	100					0	0	0	0	A	141072574	T	A	141072574	2	1	490	1	0	0	0	0	0	0	0	1	9019	1538	54	5		5	LRP1B	2	141072574	Silent	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	26559528	141072574	102126799	15	94842											
SCN3A	6328	broad.mit.edu	37	chr2	166003437	166003437	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcctccattctttagcacTtttggaactcaactttgatg	8	17	6	10	0	2	1	1	1	1	0	4	2	4	2	2	1	3	2	2	1	3	7			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:166003437T>G	ENST00000360093.3	-	12	1974	c.1483A>C	c.(1483-1485)Agt>Cgt	p.S495R	SCN3A_ENST00000409101.3_Missense_Mutation_p.S495R|SCN3A_ENST00000283254.7_Missense_Mutation_p.S495R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	495				S -> G (in Ref. 2; AAK00219).		voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTTTAGCACTTTTGGAACTC	0.448													6	209					0	0	0	0	G	166003437	T	G	166003437	3	3	490	1	0	0	0	0	1	0	0	0	14005	1609	56	5	4587	5	SCN3A	2	166003437	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	24930863	166003437	77195936	16	94843											
NCKAP1	10787	broad.mit.edu	37	chr2	183888545	183888545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataacttacattgttgttgcGggtttctacagcagggaatt	10	15	10	6	1	1	0	0	0	1	0	1	1	1	1	0	2	5	4	0	2	4	8			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:183888545G>A	ENST00000360982.2	-	3	984	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R70C	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	70					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.R76C(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGTTGCGGGTTTCTACA	0.368													35	125					0	0	0	0	A	183888545	G	A	183888545	3	1	490	1	0	0	0	0	1	0	0	0	10291	1116	39	1	3298	1	NCKAP1	2	183888545	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	17885108	183888545	59310828	17	94844											
CHPF	79586	broad.mit.edu	37	chr2	220404670	220404670	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgagggtgcggctgtcTgcacactgagccatggcacc	6	8	16	11	1	1	2	0	2	1	0	1	2	1	2	2	4	3	3	2	4	0	0			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:220404670T>A	ENST00000243776.6	-	4	2011	c.1763A>T	c.(1762-1764)cAg>cTg	p.Q588L	CHPF_ENST00000535926.1_Missense_Mutation_p.Q426L	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	588						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCGGCTGTCTGCACACTGAG	0.657													22	84					0	0	0	0	A	220404670	T	A	220404670	3	1	490	1	0	0	0	0	1	0	0	0	3397	1580	55	5	568	5	CHPF	2	220404670	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	36516125	220404670	22794703	18	94845											
TMEM198	130612	broad.mit.edu	37	chr2	220412513	220412513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccgtgtggggtccactggGgctgttgctggggggcggcc	1	9	20	11	2	0	0	0	0	0	0	2	0	2	0	3	8	1	3	3	8	0	1			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:220412513G>T	ENST00000344458.2	+	4	1037	c.452G>T	c.(451-453)gGg>gTg	p.G151V	TMEM198_ENST00000373883.3_Missense_Mutation_p.G151V			Q66K66	TM198_HUMAN	transmembrane protein 198	151	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTCCACTGGGGCTGTTGCTG	0.711													5	29					1	1	1	0	T	220412513	G	T	220412513	3	4	490	1	0	0	0	0	1	0	0	0	16213	1232	43	4	458	4	TMEM198	2	220412513	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	7843	220412513	22786860	19	94846											
MTMR14	64419	broad.mit.edu	37	chr3	9739527	9739527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctccctttcagcttcccGgatgagctccctaacagttg	6	13	7	15	1	2	1	1	1	1	0	6	2	5	2	3	1	3	3	3	1	1	4			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:9739527G>A	ENST00000296003.4	+	18	1868	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000351233.5_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	582						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCAGCTTCCCGGATGAGCTCC	0.562													5	309					0	0	0	0	A	9739527	G	A	9739527	2	1	490	1	0	0	0	0	0	0	0	1	10012	1103	39	1		1	MTMR14	3	9739527	Silent	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		9739527	188282903	20	94847											
PLXND1	23129	broad.mit.edu	37	chr3	129292448	129292448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactcactcctccgacacCgtgtatctgtcaggcagtgg	7	10	10	14	2	3	0	2	0	1	0	5	1	5	0	3	2	1	3	3	2	2	2	rs141704122		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:129292448C>T	ENST00000393239.1	-	13	3004	c.2826G>A	c.(2824-2826)acG>acA	p.T942T	PLXND1_ENST00000324093.4_Silent_p.T942T			Q9Y4D7	PLXD1_HUMAN	plexin D1	942	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCTCCGACACCGTGTATCTGT	0.642													5	71					0	0	0	0	T	129292448	C	T	129292448	2	4	490	1	0	0	0	0	0	0	0	1	12199	639	23	1		1	PLXND1	3	129292448	Silent	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	119552921	129292448	68729982	21	94848											
C3orf72	401089	broad.mit.edu	37	chr3	138668424	138668424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggaagggctggaatcGgtctccccaagatgtgcctt	7	9	13	12	1	1	1	0	0	1	1	3	3	1	3	4	4	1	1	4	4	3	1			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:138668424G>C	ENST00000383165.3	+	2	294	c.163G>C	c.(163-165)Ggt>Cgt	p.G55R		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	55										large_intestine(1)|lung(3)	4						GGCTGGAATCGGTCTCCCCAA	0.527													18	64					0	0	0	0	C	138668424	G	C	138668424	3	2	490	1	0	0	0	0	1	0	0	0	2264	1116	39	3	169	3	C3orf72	3	138668424	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	9375976	138668424	59354006	22	94849											
MFSD1	64747	broad.mit.edu	37	chr3	158520096	158520096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgttactgatgtgcttccTtggctttggtgagccggccg	3	14	14	10	2	0	2	0	2	0	0	1	2	1	2	3	3	3	4	3	3	1	4			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:158520096T>C	ENST00000415822.2	+	1	443	c.302T>C	c.(301-303)cTt>cCt	p.L101P	MFSD1_ENST00000264266.8_Missense_Mutation_p.L52P|MFSD1_ENST00000392813.4_Missense_Mutation_p.L101P	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	52					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATGTGCTTCCTTGGCTTTGGT	0.642													4	49					0	0	0	0	C	158520096	T	C	158520096	3	2	490	1	0	0	0	0	1	0	0	0	9596	1609	56	5	304	5	MFSD1	3	158520096	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	19851672	158520096	39502334	23	94850											
PRDM8	56978	broad.mit.edu	37	chr4	81123252	81123252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggtggcaaagaccaGcagcagcagcagcaggaggc	11	1	18	11	2	0	1	0	0	0	1	0	2	0	2	1	6	5	6	1	6	1	0			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr4:81123252G>C	ENST00000339711.4	+	10	1867	c.636G>C	c.(634-636)caG>caC	p.Q212H	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	212	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcaaagaccagcagcagcagc	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	63					0	0	0	0	C	81123252	G	C	81123252	3	2	490	1	0	0	0	0	1	0	0	0	12542	962	34	4	646	4	PRDM8	4	81123252	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		81123252	110031024	24	94851											
MCTP1	79772	broad.mit.edu	37	chr5	94044269	94044269	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagtagttcattgttaTcaattgcatatggactccga	12	14	8	7	1	3	0	3	0	0	0	4	2	4	1	1	1	1	4	1	1	5	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:94044269T>A	ENST00000515393.1	-	22	2875	c.2876A>T	c.(2875-2877)gAt>gTt	p.D959V	MCTP1_ENST00000505078.1_Missense_Mutation_p.D475V|MCTP1_ENST00000312216.8_Missense_Mutation_p.D738V|MCTP1_ENST00000429576.2_Missense_Mutation_p.D652V|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	959					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCATTGTTATCAATTGCATA	0.333													28	57					0	0	0	0	A	94044269	T	A	94044269	3	1	490	1	0	0	0	0	1	0	0	0	9469	1435	50	5	131	5	MCTP1	5	94044269	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08		94044269	86870991	25	94852											
PCDHA4	56144	broad.mit.edu	37	chr5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgggtaggggagcgcgCgctgtcgagctacgtttcgg	4	7	20	10	8	0	0	0	0	0	0	2	2	0	1	0	5	3	4	0	5	2	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.662													25	80					0	0	0	0	T	140188280	C	T	140188280	3	4	490	1	0	0	0	0	1	0	0	0	11597	768	27	1	1510	1	PCDHA4	5	140188280	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	46144011	140188280	40726980	26	94853											
PCDHB4	56131	broad.mit.edu	37	chr5	140503665	140503665	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtggcgttggcctcGgtgtcgtcgctcttcctctt	0	15	14	12	4	2	0	0	0	2	0	6	0	3	0	2	5	0	2	2	5	0	3	rs147086302	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:140503665G>A	ENST00000194152.1	+	1	2085	c.2085G>A	c.(2083-2085)tcG>tcA	p.S695S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		695					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCGTCGC	0.701													62	219					0	0	0	0	A	140503665	G	A	140503665	2	1	490	1	0	0	0	0	0	0	0	1	11615	1103	39	1		1	PCDHB4	5	140503665	Silent	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	315385	140503665	40411595	27	94854											
KIF4B	285643	broad.mit.edu	37	chr5	154393522	154393522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagatgtgcctttccttcGtgcccggggagactcaggtg	5	10	14	12	2	1	2	1	0	0	2	3	3	2	2	4	3	2	0	4	3	0	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:154393522G>A	ENST00000435029.4	+	1	263	c.103G>A	c.(103-105)Gtg>Atg	p.V35M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	35	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTTTCCTTCGTGCCCGGGGA	0.517													29	85					0	0	0	0	A	154393522	G	A	154393522	3	1	490	1	0	0	0	0	1	0	0	0	8355	1145	40	1	105	1	KIF4B	5	154393522	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	13889857	154393522	26521738	28	94855											
SLC22A23	63027	broad.mit.edu	37	chr6	3284146	3284146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaggctccccaccgcatggGaggcaaacatgcccacgatg	10	5	12	14	2	0	1	0	1	0	0	1	3	1	2	4	3	2	3	4	3	1	0			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:3284146G>A	ENST00000436008.2	-	10	2129	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	SLC22A23_ENST00000406686.3_Missense_Mutation_p.S548F|SLC22A23_ENST00000490273.1_Missense_Mutation_p.S267F|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.S267F			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	548					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CACCGCATGGGAGGCAAACAT	0.587													15	31					0	0	0	0	A	3284146	G	A	3284146	3	1	490	1	0	0	0	0	1	0	0	0	14541	1174	41	2	425	2	SLC22A23	6	3284146	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		3284146	167830921	29	94856											
KIF13A	63971	broad.mit.edu	37	chr6	17805743	17805743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcttggtaaaggtctCtcatgtcaattaatttattc	10	18	5	8	0	4	0	2	0	2	0	7	0	5	0	1	2	0	1	1	2	5	7			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:17805743C>A	ENST00000378814.5	-	19	2266	c.2267G>T	c.(2266-2268)aGa>aTa	p.R756I	KIF13A_ENST00000378816.5_Missense_Mutation_p.R756I|KIF13A_ENST00000378826.2_Missense_Mutation_p.R756I|KIF13A_ENST00000259711.6_Missense_Mutation_p.R756I|KIF13A_ENST00000378843.2_Missense_Mutation_p.R756I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	756					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTAAAGGTCTCTCATGTCAAT	0.378													4	82					2.56e-06	2.63529e-06	1	0	A	17805743	C	A	17805743	3	1	490	1	0	0	0	0	1	0	0	0	8325	913	32	2	3259	2	KIF13A	6	17805743	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	14521597	17805743	153309324	30	94857											
PLA2G7	7941	broad.mit.edu	37	chr6	46690552	46690552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgggcaacaggatttatgTattgccagtcaaaaggataa	15	11	10	5	0	1	0	1	0	0	0	1	2	1	2	1	3	2	2	1	3	7	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:46690552T>C	ENST00000274793.7	-	2	273	c.77A>G	c.(76-78)tAc>tGc	p.Y26C	PLA2G7_ENST00000538237.1_Intron|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.Y26C	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	26					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGGATTTATGTATTGCCAGTC	0.478													8	36					0	0	0	0	C	46690552	T	C	46690552	3	2	490	1	0	0	0	0	1	0	0	0	12081	1638	57	5	1292	5	PLA2G7	6	46690552	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	28884809	46690552	124424515	31	94858											
COL19A1	1310	broad.mit.edu	37	chr6	70897859	70897859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaggcatgaagggggccatCggtcctatgggtccaccagg	9	6	15	11	1	0	1	0	1	0	0	3	1	2	1	4	6	0	1	4	6	2	1			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:70897859C>G	ENST00000322773.4	+	47	3039	c.2937C>G	c.(2935-2937)atC>atG	p.I979M	COL19A1_ENST00000393344.1_Missense_Mutation_p.I601M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	979	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGGGGCCATCGGTCCTATGG	0.562													15	47					0	0	0	0	G	70897859	C	G	70897859	3	3	490	1	0	0	0	0	1	0	0	0	3706	874	31	3	3119	3	COL19A1	6	70897859	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	24207307	70897859	100217208	32	94859											
KIAA1009	22832	broad.mit.edu	37	chr6	84884658	84884658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccttgttctcaccacAgtatcctaaggaatcctttc	8	15	4	14	0	2	0	1	0	2	0	7	1	4	1	4	1	0	2	4	1	3	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:84884658A>G	ENST00000403245.3	-	15	1927	c.1813T>C	c.(1813-1815)Tgt>Cgt	p.C605R	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.C529R	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	605					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTCACCACAGTATCCTAAG	0.348													6	14					0	0	0	0	G	84884658	A	G	84884658	3	3	490	1	0	0	0	0	1	0	0	0	8254	188	7	5	2450	5	KIAA1009	6	84884658	Missense_Mutation	SNP	A	TCGA-UF-A718-01A-22D-A34J-08	13986799	84884658	86230409	33	94860											
BCLAF1	9774	broad.mit.edu	37	chr6	136593156	136593156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgattttcttctttaaaaaCtctctcttcccctgctaaac	9	18	2	12	0	4	1	0	1	4	0	6	1	5	1	2	0	3	1	2	0	5	8			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:136593156C>G	ENST00000531224.1	-	8	2272	c.2020G>C	c.(2020-2022)Gtt>Ctt	p.V674L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.V674L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.V672L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V672L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V672L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.V501L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	674					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTTAAAAACTCTCTCTTCC	0.289													8	154					0	0	0	0	G	136593156	C	G	136593156	3	3	490	1	0	0	0	0	1	0	0	0	1387	565	20	4	766	4	BCLAF1	6	136593156	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	51708498	136593156	34521911	34	94861											
OGDH	4967	broad.mit.edu	37	chr7	44747227	44747228	+	Frame_Shift_Ins	INS	-	-	C																															ctgaaggaggtgcagaagtaINSccccaatgctgagctggcct																										TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:44747227_44747228insC	ENST00000222673.5	+	22	2885_2886	c.2843_2844insC	c.(2842-2844)tccfs	p.S948fs	OGDH_ENST00000439616.2_Frame_Shift_Ins_p.S798fs|OGDH_ENST00000543843.1_Frame_Shift_Ins_p.S899fs|OGDH_ENST00000449767.1_Frame_Shift_Ins_p.S944fs|OGDH_ENST00000447398.1_Frame_Shift_Ins_p.S959fs|OGDH_ENST00000444676.1_Frame_Shift_Ins_p.S963fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	948					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTGCAGAAGTACCCCAATGCTG	0.564													35	113	---	---	---	---					C	44747228	-	C	44747227	7	5	490	1	0	1	1	0	0	0	0	0	10910	391	14	0	3098	0	OGDH	7	44747227	Frame_Shift_Ins	INS	-	TCGA-UF-A718-01A-22D-A34J-08		44747227	114391436	35	94862											
C7orf63	79846	broad.mit.edu	37	chr7	89939466	89939466	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatacggatattgctcttAaaaaactgcccattcgagga	13	12	8	8	2	1	1	0	1	1	0	2	4	1	3	1	2	4	1	1	2	5	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:89939466A>T	ENST00000389297.4	+	23	2991	c.2740A>T	c.(2740-2742)Aaa>Taa	p.K914*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.K896*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.K868*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	914							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TATTGCTCTTAAAAAACTGCC	0.448													26	91					0	0	0	0	T	89939466	A	T	89939466	4	4	490	1	0	0	0	0	0	1	0	0	2432	363	13	5	2830	5	C7orf63	7	89939466	Nonsense_Mutation	SNP	A	TCGA-UF-A718-01A-22D-A34J-08	45192239	89939466	69199197	36	94863											
ZNF394	84124	broad.mit.edu	37	chr7	99091497	99091497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatatgacaggtttccccGcattcctcacatttaaaatg	13	12	6	10	1	1	1	1	1	0	0	3	2	3	1	3	1	0	2	3	1	4	5			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:99091497G>A	ENST00000337673.6	-	3	1544	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGGTTTCCCCGCATTCCTCAC	0.428													5	290					0	0	0	0	A	99091497	G	A	99091497	2	1	490	1	0	0	0	0	0	0	0	1	17975	1079	38	1		1	ZNF394	7	99091497	Silent	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	9152031	99091497	60047166	37	94864											
MET	4233	broad.mit.edu	37	chr7	116397691	116397691	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttatctcccctccaGgatcctgtaataacaagtat	10	16	5	10	0	1	0	0	0	1	0	4	1	3	1	4	1	1	3	4	1	5	7			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:116397691G>T	ENST00000397752.3	+	8	2165		c.e8-1		MET_ENST00000436117.2_Splice_Site|MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTCCCCTCCAGGATCCTGTAA	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				38	137					5.43694e-19	6.13848e-19	1	0	T	116397691	G	T	116397691	5	4	490	1	0	0	0	0	0	0	1	0	9554	1014	35	4	1991	4	MET	7	116397691	Splice_Site	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	17306194	116397691	42740972	38	94865											
NDUFB2	4708	broad.mit.edu	37	chr7	140404687	140404687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtatcctgatccttccCagtggacagatgaagaatta	11	12	8	10	1	0	4	0	2	0	2	4	5	4	5	4	1	0	1	4	1	4	4			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:140404687C>G	ENST00000476279.1	+	3	345	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	NDUFB2_ENST00000460088.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000475276.1_Missense_Mutation_p.Q64E|NDUFB2_ENST00000476470.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000465506.1_Missense_Mutation_p.Q91E|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.Q81E|NDUFB2_ENST00000482954.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000471136.1_Missense_Mutation_p.Q79E|NDUFB2_ENST00000247866.4_Missense_Mutation_p.Q91E|NDUFB2_ENST00000472695.1_Missense_Mutation_p.Q27E			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	91					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	TGATCCTTCCCAGTGGACAGA	0.388													18	45					0	0	0	0	G	140404687	C	G	140404687	3	3	490	1	0	0	0	0	1	0	0	0	10351	595	21	4	281	4	NDUFB2	7	140404687	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	24006996	140404687	18733976	39	94866											
RECQL4	9401	broad.mit.edu	37	chr8	145739027	145739027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccgctctgtgtcctcgcGccggttgcagtaaatgataa	8	11	11	11	4	1	1	0	1	1	0	4	2	3	1	3	1	1	4	3	1	3	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr8:145739027G>A	ENST00000428558.2	-	13	2169	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	710	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGTCCTCGCGCCGGTTGCAG	0.612			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	19					0	0	0	0	A	145739027	G	A	145739027	3	1	490	1	0	0	0	0	1	0	0	0	13284	1087	38	1	1535	1	RECQL4	8	145739027	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		145739027	624995	40	94867											
C9orf84	158401	broad.mit.edu	37	chr9	114470140	114470140	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatgaatttttaccccctTaaaacaccttcagattccag	13	12	5	11	0	1	2	1	1	0	1	2	3	2	3	4	1	2	0	4	1	5	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr9:114470140T>C	ENST00000394779.3	-	15	2488	c.2244A>G	c.(2242-2244)ttA>ttG	p.L748L	C9orf84_ENST00000394777.4_Silent_p.L713L|C9orf84_ENST00000374287.3_Silent_p.L787L|C9orf84_ENST00000318737.4_Silent_p.L787L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	787										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTACCCCCTTAAAACACCTT	0.318													4	180					0	0	0	0	C	114470140	T	C	114470140	2	2	490	1	0	0	0	0	0	0	0	1	2525	1751	61	5		5	C9orf84	9	114470140	Silent	SNP	T	TCGA-UF-A718-01A-22D-A34J-08		114470140	26743291	41	94868											
LYZL2	119180	broad.mit.edu	37	chr10	30915092	30915092	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccgcgtctgcaccacgcGaagctgttgatctggaagat	8	11	11	11	4	2	2	0	1	2	1	3	4	3	3	2	1	2	3	2	1	2	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:30915092G>A	ENST00000375318.2	-	3	434	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	80					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TGCACCACGCGAAGCTGTTGA	0.577													23	65					0	0	0	0	A	30915092	G	A	30915092	2	1	490	1	0	0	0	0	0	0	0	1	9197	1049	37	1		1	LYZL2	10	30915092	Silent	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		30915092	104619655	42	94869											
ZEB1	6935	broad.mit.edu	37	chr10	31815883	31815883	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccctcacagggcgactcGgacgagagagagagtttgac	10	7	13	11	3	2	3	1	1	1	2	4	8	2	4	1	2	0	1	1	2	0	1	rs146803682		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:31815883G>C	ENST00000446923.2	+	9	3409	c.3018G>C	c.(3016-3018)tcG>tcC	p.S1006S	ZEB1_ENST00000542815.3_Silent_p.S955S|ZEB1_ENST00000361642.5_Silent_p.S1023S|ZEB1_ENST00000320985.10_Silent_p.S1022S|ZEB1_ENST00000560721.2_Silent_p.S1002S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1022	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGGGCGACTCGGACGAGAGAG	0.517													4	21					0	0	0	0	C	31815883	G	C	31815883	2	2	490	1	0	0	0	0	0	0	0	1	17718	1103	39	3		3	ZEB1	10	31815883	Silent	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	900791	31815883	103718864	43	94870											
DENND5A	23258	broad.mit.edu	37	chr11	9192362	9192362	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacacacacacacacaCacataaatacacacacaaat	22	3	0	16	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	4	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr11:9192362C>T	ENST00000527700.1	-	0	1430				DENND5A_ENST00000530044.1_Intron|DENND5A_ENST00000328194.3_Intron			Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A											breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						cacacacacacacataaatac	0.383													6	101					0	0	0	0	T	9192362	C	T	9192362	1	4	490	1	0	0	0	0	0	0	0	0	4473	493	17	4		4	DENND5A	11	9192362	Translation_Start_Site	SNP	C	TCGA-UF-A718-01A-22D-A34J-08		9192362	125814154	44	94871											
EIF4B	1975	broad.mit.edu	37	chr12	53433969	53433969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgctctctctgttgatGgtgaagatgaaaatgaggga	11	12	13	5	0	2	5	0	4	2	1	3	6	2	6	0	2	2	3	0	2	3	1			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr12:53433969G>A	ENST00000262056.9	+	15	2124	c.1798G>A	c.(1798-1800)Ggt>Agt	p.G600S	RP11-983P16.4_ENST00000546566.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.G605S|EIF4B_ENST00000416762.3_Missense_Mutation_p.G561S|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	600					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CTCTGTTGATGGTGAAGATGA	0.438													16	63					0	0	0	0	A	53433969	G	A	53433969	3	1	490	1	0	0	0	0	1	0	0	0	5065	1348	47	4	1856	4	EIF4B	12	53433969	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		53433969	80417926	45	94872											
CEP290	80184	broad.mit.edu	37	chr12	88530464	88530464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaactccttttccatgtCctccaattctctatcttttt	6	19	1	15	0	2	0	0	0	2	0	8	0	7	0	5	0	1	0	5	0	3	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr12:88530464C>T	ENST00000552810.1	-	6	740	c.397G>A	c.(397-399)Gac>Aac	p.D133N	CEP290_ENST00000309041.7_Missense_Mutation_p.D133N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	133					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTCCATGTCCTCCAATTCT	0.368													26	106					0	0	0	0	T	88530464	C	T	88530464	3	4	490	1	0	0	0	0	1	0	0	0	3282	855	30	2	7238	2	CEP290	12	88530464	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	35096495	88530464	45321431	46	94873											
TPP2	7174	broad.mit.edu	37	chr13	103326700	103326700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttgtgccctggcagacCatcttcttcacacccaggct	8	10	9	14	0	3	1	1	0	2	1	3	1	3	1	3	3	1	3	3	3	1	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr13:103326700C>T	ENST00000376052.3	+	28	3455	c.3439C>T	c.(3439-3441)Cat>Tat	p.H1147Y	TPP2_ENST00000376065.4_Missense_Mutation_p.H1134Y|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1134					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGGCAGACCATCTTCTTCA	0.448													19	49					0	0	0	0	T	103326700	C	T	103326700	3	4	490	1	0	0	0	0	1	0	0	0	16507	594	21	4	3506	4	TPP2	13	103326700	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08		103326700	11843178	47	94874											
MLH3	27030	broad.mit.edu	37	chr14	75514995	75514995	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttgtaaagatggcTctgtcattttgctatggcct	6	19	9	7	0	2	1	1	0	1	1	2	1	2	1	1	2	1	4	1	2	3	7			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:75514995T>G	ENST00000355774.2	-	2	1579	c.1364A>C	c.(1363-1365)gAg>gCg	p.E455A	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.E455A|MLH3_ENST00000556257.1_Missense_Mutation_p.E455A|MLH3_ENST00000556740.1_Missense_Mutation_p.E455A	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	455					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TAAAGATGGCTCTGTCATTTT	0.368								Mismatch excision repair (MMR)					50	168					0	0	0	0	G	75514995	T	G	75514995	3	3	490	1	0	0	0	0	1	0	0	0	9687	1551	54	5	3045	5	MLH3	14	75514995	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08		75514995	31834545	48	94875											
USP8	9101	broad.mit.edu	37	chr15	50763967	50763967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagattggaacaactctccGgagtctgaaagatgcacttt	13	10	9	9	1	2	3	0	1	2	2	3	5	2	5	1	2	3	1	1	2	3	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr15:50763967G>A	ENST00000433963.1	+	9	1324	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	USP8_ENST00000307179.4_Missense_Mutation_p.R275Q|USP8_ENST00000396444.3_Missense_Mutation_p.R275Q|USP8_ENST00000425032.3_Missense_Mutation_p.R198Q	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	275	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACAACTCTCCGGAGTCTGAAA	0.398													7	128					0	0	0	0	A	50763967	G	A	50763967	3	1	490	1	0	0	0	0	1	0	0	0	17185	1116	39	1	850	1	USP8	15	50763967	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		50763967	51767425	49	94876											
C15orf39	56905	broad.mit.edu	37	chr15	75499309	75499310	+	Frame_Shift_Ins	INS	-	-	G																															gcactcccactgcagcctctINSggggggccacaaggggaccg																										TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr15:75499309_75499310insG	ENST00000360639.2	+	2	1240_1241	c.920_921insG	c.(919-921)cggfs	p.R307fs	C15orf39_ENST00000394987.4_Frame_Shift_Ins_p.R307fs|C15orf39_ENST00000567617.1_Frame_Shift_Ins_p.R307fs			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	307										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCAGCCTCTGGGGGGCCACA	0.698													12	28	---	---	---	---					G	75499310	-	G	75499309	7	5	490	1	0	1	1	0	0	0	0	0	1805	1580	55	0	922	0	C15orf39	15	75499309	Frame_Shift_Ins	INS	-	TCGA-UF-A718-01A-22D-A34J-08	24735342	75499309	27032083	50	94877											
PIGQ	9091	broad.mit.edu	37	chr16	628842	628842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttggcacgtgggcctctCggcctgcctgggcctgacgg	2	9	15	15	3	1	1	0	1	1	0	2	1	1	1	5	5	1	1	5	5	0	1			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:628842C>T	ENST00000321878.5	+	6	1286	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000026218.5_Missense_Mutation_p.S376L|PIGQ_ENST00000409527.2_Missense_Mutation_p.S376L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	376	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	p.S376L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGGGCCTCTCGGCCTGCCTG	0.632													40	108					0	0	0	0	T	628842	C	T	628842	3	4	490	1	0	0	0	0	1	0	0	0	11968	893	31	1	1145	1	PIGQ	16	628842	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08		628842	89725911	51	94878											
UNKL	64718	broad.mit.edu	37	chr16	1453187	1453187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgacgtcacacacgggcGgccgcaggtccagggggccg	7	3	16	15	5	1	1	1	1	0	0	2	1	2	1	4	5	0	1	4	5	0	0	rs145589979		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:1453187G>A	ENST00000389221.4	-	3	445	c.446C>T	c.(445-447)cCg>cTg	p.P149L	UNKL_ENST00000397462.1_Missense_Mutation_p.P236L|UNKL_ENST00000301712.5_Missense_Mutation_p.P149L|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000508903.2_Missense_Mutation_p.P149L	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	149						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				ACACACGGGCGGCCGCAGGTC	0.637													6	25					0	0	0	0	A	1453187	G	A	1453187	3	1	490	1	0	0	0	0	1	0	0	0	17097	1116	39	1	1118	1	UNKL	16	1453187	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	824345	1453187	88901566	52	94879											
TXNDC11	51061	broad.mit.edu	37	chr16	11794371	11794371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtactaaggataccagtttCgcaagatgtttatttgtgat	11	16	9	5	1	0	2	0	1	0	1	1	3	0	3	1	1	2	4	1	1	5	7			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:11794371C>T	ENST00000356957.3	-	7	1031	c.924G>A	c.(922-924)gcG>gcA	p.A308A	TXNDC11_ENST00000283033.5_Silent_p.A281A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	308					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATACCAGTTTCGCAAGATGTT	0.348													31	81					0	0	0	0	T	11794371	C	T	11794371	2	4	490	1	0	0	0	0	0	0	0	1	16888	871	31	1		1	TXNDC11	16	11794371	Silent	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	10341184	11794371	78560382	53	94880											
DNAH3	55567	broad.mit.edu	37	chr16	21051256	21051256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcatggccactgtccGgaacaaggcctggaaaagaa	14	5	11	11	1	1	1	1	0	0	1	2	4	2	3	4	4	1	0	4	4	5	0	rs141534193	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:21051256G>A	ENST00000261383.3	-	33	4647	c.4648C>T	c.(4648-4650)Cgg>Tgg	p.R1550W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1550	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1550W(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACTGTCCGGAACAAGGCC	0.483													5	100					0	0	0	0	A	21051256	G	A	21051256	3	1	490	1	0	0	0	0	1	0	0	0	4640	1115	39	1	7821	1	DNAH3	16	21051256	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	9256885	21051256	69303497	54	94881											
KIAA0556	23247	broad.mit.edu	37	chr16	27788942	27788942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcagctcctggtggaCgacctgcttgtgtacaatgg	6	11	12	12	1	0	0	0	0	0	0	2	2	2	1	3	3	4	4	3	3	2	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:27788942C>T	ENST00000261588.4	+	26	4582	c.4563C>T	c.(4561-4563)gaC>gaT	p.D1521D		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1521										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCTGGTGGACGACCTGCTTG	0.637													16	58					0	0	0	0	T	27788942	C	T	27788942	2	4	490	1	0	0	0	0	0	0	0	1	8234	535	19	1		1	KIAA0556	16	27788942	Silent	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	6737686	27788942	62565811	55	94882											
DHX38	9785	broad.mit.edu	37	chr16	72139420	72139420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtcctgctctaggctcCagatggcgttcggaagtgca	7	11	13	10	2	1	1	0	0	1	1	4	2	3	2	2	3	2	5	2	3	3	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:72139420C>T	ENST00000268482.3	+	18	2893	c.2384C>T	c.(2383-2385)cCa>cTa	p.P795L	DHX38_ENST00000536867.1_Missense_Mutation_p.P107L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	795	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CTCTAGGCTCCAGATGGCGTT	0.522													41	113					0	0	0	0	T	72139420	C	T	72139420	3	4	490	1	0	0	0	0	1	0	0	0	4548	594	21	4	2450	4	DHX38	16	72139420	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	44350478	72139420	18215333	56	94883											
WWOX	51741	broad.mit.edu	37	chr16	79245629	79245629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcagagcgaagagacggCccggaccctgtgggcgctca	9	4	15	13	4	2	2	2	0	0	2	2	5	2	3	2	3	2	2	2	3	1	0			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:79245629C>A	ENST00000566780.1	+	9	1547	c.1181C>A	c.(1180-1182)gCc>gAc	p.A394D	WWOX_ENST00000539474.2_Missense_Mutation_p.P204T|WWOX_ENST00000402655.2_Silent_p.G178G|WWOX_ENST00000406884.2_Missense_Mutation_p.A214D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	394	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GAAGAGACGGCCCGGACCCTG	0.627													20	71					1.22574e-08	1.32683e-08	1	0	A	79245629	C	A	79245629	3	1	490	1	0	0	0	0	1	0	0	0	17510	739	26	4	1277	4	WWOX	16	79245629	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	7106209	79245629	11109124	57	94884											
CDYL2	124359	broad.mit.edu	37	chr16	80646698	80646698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgatggccaccacgataGgcttcttaaactggataaag	13	10	9	9	1	1	1	0	1	1	0	1	3	1	2	2	3	1	1	2	3	5	5			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:80646698G>C	ENST00000299564.8	-	5	1198	c.1043C>G	c.(1042-1044)cCt>cGt	p.P348R	CDYL2_ENST00000563890.1_Missense_Mutation_p.P349R|CDYL2_ENST00000562812.1_Missense_Mutation_p.P349R|CDYL2_ENST00000566173.1_Missense_Mutation_p.P349R	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	348						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CACCACGATAGGCTTCTTAAA	0.562													10	70					0	0	0	0	C	80646698	G	C	80646698	3	2	490	1	0	0	0	0	1	0	0	0	3215	1000	35	4	489	4	CDYL2	16	80646698	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	1401069	80646698	9708055	58	94885											
TP53	7157	broad.mit.edu	37	chr17	7577609	7577609	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacagtcagagccaacCtaggagataacacaggccca	14	5	11	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	4	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:7577609C>G	ENST00000420246.2	-	7	805		c.e7-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAGAGCCAACCTAGGAGATAA	0.527		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)			48	42					0	0	0	0	G	7577609	C	G	7577609	5	3	490	1	0	0	0	0	0	0	1	0	16476	695	24	4	618	4	TP53	17	7577609	Splice_Site	SNP	C	TCGA-UF-A718-01A-22D-A34J-08		7577609	73617601	59	94886											
MYH8	4626	broad.mit.edu	37	chr17	10317738	10317739	+	Frame_Shift_Ins	INS	-	-	A																															cttattggaagtgatctgatINSaaaaaatatggtagcttctt																										TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:10317738_10317739insA	ENST00000403437.2	-	10	962_963	c.868_869insT	c.(868-870)tcafs	p.S290fs	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	290	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTGATCTGATAAAAAATATGG	0.302									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				31	116	---	---	---	---					A	10317739	-	A	10317738	7	5	490	1	0	1	1	0	0	0	0	0	10111	1406	49	0	5068	0	MYH8	17	10317738	Frame_Shift_Ins	INS	-	TCGA-UF-A718-01A-22D-A34J-08	2740129	10317738	70877472	60	94887											
CDC27	996	broad.mit.edu	37	chr17	45234475	45234475	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattggaagattctaaatTcaatctgtttaattcctgaa	14	16	6	5	0	3	3	1	2	2	1	4	4	4	4	1	1	0	1	1	1	7	7			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:45234475T>G	ENST00000066544.3	-	7	739	c.646A>C	c.(646-648)Aat>Cat	p.N216H	CDC27_ENST00000527547.1_Missense_Mutation_p.N216H|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.N216H|CDC27_ENST00000446365.2_Missense_Mutation_p.N155H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	216					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GATTCTAAATTCAATCTGTTT	0.308													3	40					0	0	0	0	G	45234475	T	G	45234475	3	3	490	1	0	0	0	0	1	0	0	0	3095	1783	62	5	1898	5	CDC27	17	45234475	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	34916737	45234475	35960735	61	94888											
SEC14L1	6397	broad.mit.edu	37	chr17	75199695	75199695	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggggcagatggacacCaaaggcttggtgagagcgct	10	6	17	8	1	0	2	0	1	0	2	0	4	0	3	1	6	1	4	1	6	1	1			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:75199695C>G	ENST00000413679.2	+	10	1356	c.1053C>G	c.(1051-1053)acC>acG	p.T351T	SEC14L1_ENST00000392476.2_Silent_p.T351T|SEC14L1_ENST00000443798.4_Silent_p.T351T|SEC14L1_ENST00000436233.4_Silent_p.T351T|SEC14L1_ENST00000591437.1_Silent_p.T317T|SEC14L1_ENST00000585618.1_Silent_p.T351T|SEC14L1_ENST00000431431.2_Silent_p.T317T|SEC14L1_ENST00000430767.4_Silent_p.T351T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	351	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGATGGACACCAAAGGCTTGG	0.582													10	31					0	0	0	0	G	75199695	C	G	75199695	2	3	490	1	0	0	0	0	0	0	0	1	14068	581	21	4		4	SEC14L1	17	75199695	Silent	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	29965220	75199695	5995515	62	94889											
PSMA8	143471	broad.mit.edu	37	chr18	23714010	23714010	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgaatatgcccaggaagcGgtgaagaaaggatccaccgc	13	6	13	9	2	0	3	0	2	0	1	1	5	1	5	3	3	2	1	3	3	5	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr18:23714010G>T	ENST00000308268.6	+	1	170	c.81G>T	c.(79-81)gcG>gcT	p.A27A	PSMA8_ENST00000415576.2_Silent_p.A27A|PSMA8_ENST00000343848.6_Silent_p.A27A	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	27					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	p.A27A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCCAGGAAGCGGTGAAGAAAG	0.557													24	72					1.64293e-13	1.79696e-13	1	0	T	23714010	G	T	23714010	2	4	490	1	0	0	0	0	0	0	0	1	12752	1103	39	3		3	PSMA8	18	23714010	Silent	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		23714010	54363238	63	94890											
SMARCA4	6597	broad.mit.edu	37	chr19	11113801	11113801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagatgcccccaaagccGggcagctggaggcctggctc	8	4	14	15	1	0	1	0	0	0	1	1	2	0	2	4	4	3	4	4	4	1	0			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:11113801G>A	ENST00000358026.2	+	12	2193	c.1909G>A	c.(1909-1911)Ggg>Agg	p.G637R	SMARCA4_ENST00000541122.2_Missense_Mutation_p.G637R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G637R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G637R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G637R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	637					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCCAAAGCCGGGCAGCTGGA	0.622			"F, N, Mis"		NSCLC								43	113					0	0	0	0	A	11113801	G	A	11113801	3	1	490	1	0	0	0	0	1	0	0	0	14858	1116	39	1	1951	1	SMARCA4	19	11113801	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08		11113801	48015182	64	94891											
SLC1A6	6511	broad.mit.edu	37	chr19	15061028	15061028	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatagcactctcgttgccTccccgtccccgggatgcccc	5	8	8	20	3	1	0	0	0	1	0	4	1	3	1	7	1	3	2	7	1	1	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:15061028T>A	ENST00000430939.2	-	9	1611	c.1482A>T	c.(1480-1482)ggA>ggT	p.G494G	SLC1A6_ENST00000600144.1_Silent_p.G480G|SLC1A6_ENST00000221742.3_Silent_p.G558G			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	558					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCTCGTTGCCTCCCCGTCCCC	0.647													11	24					0	0	0	0	A	15061028	T	A	15061028	2	1	490	1	0	0	0	0	0	0	0	1	14524	1538	54	5		5	SLC1A6	19	15061028	Silent	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	3947227	15061028	44067955	65	94892											
ZNF43	7594	broad.mit.edu	37	chr19	21991424	21991424	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtatgaattctcttaTgtgtagtaaggtttgagaac	11	15	10	5	0	1	2	0	2	1	1	2	3	1	2	0	1	2	5	0	1	6	6			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:21991424T>A	ENST00000594012.1	-	7	1911	c.1397A>T	c.(1396-1398)cAt>cTt	p.H466L	ZNF43_ENST00000598381.1_Missense_Mutation_p.H466L|ZNF43_ENST00000595461.1_Missense_Mutation_p.H466L|ZNF43_ENST00000354959.4_Missense_Mutation_p.H472L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATTCTCTTATGTGTAGTAAG	0.363													35	105					0	0	0	0	A	21991424	T	A	21991424	3	1	490	1	0	0	0	0	1	0	0	0	17998	1464	51	5	1018	5	ZNF43	19	21991424	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08	6930396	21991424	37137559	66	94893											
PAPL	390928	broad.mit.edu	37	chr19	39590903	39590903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatcaggacaacgcccGtgttggggataggttcatgc	8	9	14	10	2	2	0	2	0	0	0	2	3	2	3	2	5	2	2	2	5	2	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:39590903G>A	ENST00000331256.5	+	5	816	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		181						extracellular region	acid phosphatase activity|metal ion binding										GACAACGCCCGTGTTGGGGAT	0.587													28	91					0	0	0	0	A	39590903	G	A	39590903	3	1	490	1	0	0	0	0	1	0	0	0	11498	1145	40	1	556	1	PAPL	19	39590903	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	17599479	39590903	19538080	67	94894											
EXOSC5	56915	broad.mit.edu	37	chr19	41895669	41895669	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccctggtcttcacacctaCcttttcttgcttggatgtag	6	15	7	13	0	3	0	1	0	2	0	3	1	3	1	3	2	2	2	3	2	2	7			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:41895669C>A	ENST00000221233.4	-	4	676		c.e4+1		CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Splice_Site|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5						DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TTCACACCTACCTTTTCTTGC	0.617													46	149					2.13384e-23	2.43536e-23	1	0	A	41895669	C	A	41895669	5	1	490	1	0	0	0	0	0	0	1	0	5355	521	18	4	193	4	EXOSC5	19	41895669	Splice_Site	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	2304766	41895669	17233314	68	94895											
ZNF230	7773	broad.mit.edu	37	chr19	44513009	44513009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actggggctactggaccctgCccagaggaagctgtaccaag	10	6	13	12	0	0	1	0	0	0	1	0	3	0	3	3	4	4	3	3	4	4	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:44513009C>T	ENST00000429154.2	+	3	311	c.83C>T	c.(82-84)gCc>gTc	p.A28V	ZNF230_ENST00000585632.1_Missense_Mutation_p.A28V	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTGGACCCTGCCCAGAGGAAG	0.517													5	266					0	0	0	0	T	44513009	C	T	44513009	3	4	490	1	0	0	0	0	1	0	0	0	17879	739	26	4	89	4	ZNF230	19	44513009	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	2617340	44513009	14615974	69	94896											
CARD8	22900	broad.mit.edu	37	chr19	48737702	48737702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgacactcaggaacagcaCggaacaataatggctctgcc	13	7	10	11	1	2	1	1	1	1	0	2	3	2	3	1	3	4	3	1	3	4	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:48737702C>T	ENST00000391898.3	-	3	350	c.308G>A	c.(307-309)cGt>cAt	p.R103H	CARD8_ENST00000359009.4_Missense_Mutation_p.V12M|CARD8_ENST00000521613.1_Missense_Mutation_p.R53H|CARD8_ENST00000447740.2_Missense_Mutation_p.R53H|CARD8_ENST00000520153.1_Missense_Mutation_p.R53H|CARD8_ENST00000520015.1_Missense_Mutation_p.R103H|CARD8_ENST00000357778.5_De_novo_Start_InFrame|CARD8_ENST00000520753.1_Missense_Mutation_p.R103H|CARD8_ENST00000519940.1_Missense_Mutation_p.R103H|ZNF114_ENST00000597695.1_Intron	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AGGAACAGCACGGAACAATAA	0.463													18	83					0	0	0	0	T	48737702	C	T	48737702	3	4	490	1	0	0	0	0	1	0	0	0	2676	536	19	1	1341	1	CARD8	19	48737702	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08	4224693	48737702	10391281	70	94897											
IFNAR2	3455	broad.mit.edu	37	chr21	34634903	34634903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctggaatgcagtggctaTtcacaggtgcagtcataatg	10	10	14	7	0	2	0	2	0	0	0	2	1	2	1	0	4	2	4	0	4	3	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr21:34634903T>C	ENST00000404220.3	+	9	1207	c.878T>C	c.(877-879)aTt>aCt	p.I293T	IFNAR2_ENST00000342101.3_Intron|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000342136.4_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.I293T|IFNAR2_ENST00000382241.3_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	gcagtggctattcacaggtgc	0.443													7	22					0	0	0	0	C	34634903	T	C	34634903	3	2	490	1	0	0	0	0	1	0	0	0	7598	1493	52	5	908	5	IFNAR2	21	34634903	Missense_Mutation	SNP	T	TCGA-UF-A718-01A-22D-A34J-08		34634903	13494992	71	94898											
XBP1	7494	broad.mit.edu	37	chr22	29195100	29195100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcattcgagccttctttCgatctctggcagtctgagct	6	14	8	13	2	4	1	1	1	3	0	7	3	4	1	1	1	2	2	1	1	0	3			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr22:29195100C>A	ENST00000216037.6	-	2	341	c.269G>T	c.(268-270)cGa>cTa	p.R90L	XBP1_ENST00000403532.3_Missense_Mutation_p.R90L|XBP1_ENST00000405219.3_Missense_Mutation_p.R40L|XBP1_ENST00000344347.5_Missense_Mutation_p.R90L	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	90					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AGCCTTCTTTCGATCTCTGGC	0.388													20	72					1.1804e-14	1.31853e-14	1	0	A	29195100	C	A	29195100	3	1	490	1	0	0	0	0	1	0	0	0	17518	884	31	3	903	3	XBP1	22	29195100	Missense_Mutation	SNP	C	TCGA-UF-A718-01A-22D-A34J-08		29195100	22109466	72	94899											
SCUBE1	80274	broad.mit.edu	37	chr22	43634951	43634951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcctccgttattgactGcgcacgtctctggggaggga	6	9	14	12	4	1	1	0	1	1	0	3	3	2	3	2	3	2	3	2	3	1	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr22:43634951G>C	ENST00000360835.3	-	7	863	c.737C>G	c.(736-738)gCa>gGa	p.A246G	SCUBE1_ENST00000290460.7_Missense_Mutation_p.A276G|Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	246	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTTATTGACTGCGCACGTCTC	0.577													11	69					0	0	0	0	C	43634951	G	C	43634951	3	2	490	1	0	0	0	0	1	0	0	0	14031	1319	46	4	2293	4	SCUBE1	22	43634951	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	14439851	43634951	7669615	73	94900											
SLC25A6	293	broad.mit.edu	37	chrX	1505588	1505588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacccttgaagaaggcCttgcccccctcatctctgaa	9	8	7	17	1	2	3	1	2	1	1	3	3	2	3	5	1	1	1	5	1	3	2			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:1505588C>T	ENST00000381401.5	-	4	1518	c.804G>A	c.(802-804)aaG>aaA	p.K268K		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	268					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGAAGAAGGCCTTGCCCCCCT	0.622													48	168					0	0	0	0	T	1505588	C	T	1505588	2	4	490	1	0	0	0	0	0	0	0	1	14601	680	24	4		4	SLC25A6	23	1505588	Silent	SNP	C	TCGA-UF-A718-01A-22D-A34J-08		1505588	153764972	74	94901											
CYLC1	1538	broad.mit.edu	37	chrX	83129427	83129427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catctgcaaattcaaagatgGaaggactggaatcaaagaga	18	7	10	6	0	3	2	2	0	1	2	3	6	3	5	0	3	1	1	0	3	5	1			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:83129427G>A	ENST00000329312.4	+	4	1748	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	571					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGATGGAAGGACTGGA	0.378													20	11					0	0	0	0	A	83129427	G	A	83129427	3	1	490	1	0	0	0	0	1	0	0	0	4173	1175	41	2	1725	2	CYLC1	23	83129427	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	81623839	83129427	72141133	75	94902											
PCDH11X	27328	broad.mit.edu	37	chrX	91133694	91133694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcctggttgcagctgttGctggcaccataactgtcgtt	7	13	11	10	1	0	1	0	0	0	1	2	1	1	1	2	2	4	7	2	2	1	4			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:91133694G>A	ENST00000373094.1	+	2	3300	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A819T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A819T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A819T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A819T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	819					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGCTGTTGCTGGCACCAT	0.468													41	43					0	0	0	0	A	91133694	G	A	91133694	3	1	490	1	0	0	0	0	1	0	0	0	11579	1319	46	4	2461	4	PCDH11X	23	91133694	Missense_Mutation	SNP	G	TCGA-UF-A718-01A-22D-A34J-08	8004267	91133694	64136866	76	94903											
PCDH11Y	83259	broad.mit.edu	37	chrY	4966786	4966786	+	Frame_Shift_Del	DEL	A	A	-																															aatgtcccatccattgacatAagatacatcgtcaatcctgt																										TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrY:4966786delA	ENST00000333703.4	+	5	1647	c.1134delA	c.(1132-1134)atfs	p.I378fs	PCDH11Y_ENST00000362095.5_Frame_Shift_Del_p.I389fs|PCDH11Y_ENST00000215473.6_Frame_Shift_Del_p.I389fs	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	389	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCATTGACATAAGATACATCG	0.408													7	10	---	---	---	---					-	4966786	A	-	4966786	7	5	490	1	0	1	0	1	0	0	0	0	11580	352	13	0	1209	0	PCDH11Y	24	4966786	Frame_Shift_Del	DEL	A	TCGA-UF-A718-01A-22D-A34J-08		4966786	54406780	77	94904											
SLC45A1	50651	broad.mit.edu	37	chr1	8398028	8398028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggcatgtgtatctacGccttcagtgctgccttctac	5	13	11	12	1	3	0	1	0	2	0	3	0	3	0	2	2	4	4	2	2	3	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:8398028G>A	ENST00000471889.1	+	7	2135	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A618T|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A584T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	584					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTATCTACGCCTTCAGTGC	0.602													16	71					0	0	0	0	A	8398028	G	A	8398028	3	1	491	1	0	0	0	0	1	0	0	0	14728	1087	38	1	1772	1	SLC45A1	1	8398028	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		8398028	240852593	1	94905											
VPS13D	55187	broad.mit.edu	37	chr1	12429604	12429604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgacttcattggattatgCctgggacgaacccaccttgc	9	11	9	12	1	1	1	1	1	0	0	1	4	1	3	3	2	3	0	3	2	2	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:12429604C>T	ENST00000358136.3	+	54	10785	c.10655C>T	c.(10654-10656)gCc>gTc	p.A3552V	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.A3527V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3551					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGGATTATGCCTGGGACGAA	0.507													5	256					0	0	0	0	T	12429604	C	T	12429604	3	4	491	1	0	0	0	0	1	0	0	0	17288	739	26	4	10865	4	VPS13D	1	12429604	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	4031576	12429604	236821017	2	94906											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-																															ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg																										TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													9	357	---	---	---	---					-	32670248	TG	-	32670247	7	5	491	1	0	1	0	1	0	0	0	0	2829	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-UF-A719-01A-12D-A34J-08	20240643	32670247	216580374	3	94907											
KCNQ4	9132	broad.mit.edu	37	chr1	41303354	41303354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagggtggaccaaattgtggGtcgggggcccggggacagga	8	6	20	7	2	0	0	0	0	0	0	1	3	0	3	2	8	0	0	2	8	2	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:41303354G>A	ENST00000347132.5	+	13	1845	c.1763G>A	c.(1762-1764)gGt>gAt	p.G588D	KCNQ4_ENST00000509682.2_Missense_Mutation_p.G534D|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	588	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CAAATTGTGGGTCGGGGGCCC	0.622													13	15					0	0	0	0	A	41303354	G	A	41303354	3	1	491	1	0	0	0	0	1	0	0	0	8138	1261	44	4	1813	4	KCNQ4	1	41303354	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	8633107	41303354	207947267	4	94908											
TSPAN1	10103	broad.mit.edu	37	chr1	46649973	46649973	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgcagtttgtcaacgtGggctacttcctcatcgcagc	7	11	10	13	2	2	0	2	0	0	0	4	0	3	0	2	1	4	4	2	1	2	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:46649973G>A	ENST00000372003.1	+	4	632	c.168G>A	c.(166-168)gtG>gtA	p.V56V	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	56						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TTGTCAACGTGGGCTACTTCC	0.567													22	62					0	0	0	0	A	46649973	G	A	46649973	2	1	491	1	0	0	0	0	0	0	0	1	16728	1335	47	4		4	TSPAN1	1	46649973	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	5346619	46649973	202600648	5	94909											
DMRTB1	63948	broad.mit.edu	37	chr1	53927258	53927258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggacgcccctcctggCgtccccctgcagcagggctt	4	8	11	18	2	0	0	0	0	0	0	2	1	2	1	6	3	3	3	6	3	1	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:53927258C>T	ENST00000371445.3	+	2	745	c.690C>T	c.(688-690)ggC>ggT	p.G230G	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	230	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCCCTCCTGGCGTCCCCCTGC	0.672													22	50					0	0	0	0	T	53927258	C	T	53927258	2	4	491	1	0	0	0	0	0	0	0	1	4627	755	27	1		1	DMRTB1	1	53927258	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	7277285	53927258	195323363	6	94910											
ZZZ3	26009	broad.mit.edu	37	chr1	78097599	78097599	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatcaggatcatcatcttCctcttctgtaatgtgctgac	10	14	6	11	0	6	1	3	1	3	0	7	2	7	2	1	1	2	2	1	1	2	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:78097599C>A	ENST00000370801.3	-	5	1916	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCATCATCTTCCTCTTCTGTA	0.403													29	144					9.80776e-20	1.07885e-19	1	0	A	78097599	C	A	78097599	4	1	491	1	0	0	0	0	0	1	0	0	18347	864	30	2	1314	2	ZZZ3	1	78097599	Nonsense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	24170341	78097599	171153022	7	94911											
AKNAD1	254268	broad.mit.edu	37	chr1	109377664	109377664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcccagaagggtggccgggGtgctccttgggaatctgggg	5	7	20	9	1	1	1	0	0	1	1	2	2	2	2	3	8	1	1	3	8	2	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:109377664G>T	ENST00000370001.3	-	8	1819	c.1551C>A	c.(1549-1551)caC>caA	p.H517Q	AKNAD1_ENST00000369994.1_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.H517Q|AKNAD1_ENST00000357393.4_Missense_Mutation_p.H224Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	517										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGTGGCCGGGGTGCTCCTTGG	0.607													28	23					2.65835e-16	2.90602e-16	1	0	T	109377664	G	T	109377664	3	4	491	1	0	0	0	0	1	0	0	0	464	1252	44	4	995	4	AKNAD1	1	109377664	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	31280065	109377664	139872957	8	94912											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529665	150529665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttgctccggcaccccGcccagcccggaccccaggca	6	3	9	23	3	0	0	0	0	0	0	1	1	1	1	8	3	2	3	8	3	0	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:150529665G>A	ENST00000271643.4	+	12	2137	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R634H|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R634H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R657H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	634	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.R634H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGGCACCCCGCCCAGCCCGG	0.711													10	45					0	0	0	0	A	150529665	G	A	150529665	3	1	491	1	0	0	0	0	1	0	0	0	277	1087	38	1	1939	1	ADAMTSL4	1	150529665	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	41152001	150529665	98720956	9	94913											
FLG	2312	broad.mit.edu	37	chr1	152281985	152281985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgtgcctgctcgtggcGggatctttgtcttcctccag	2	14	12	13	3	3	0	0	0	3	0	7	1	5	1	3	2	2	1	3	2	0	2	rs138288591		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:152281985G>A	ENST00000368799.1	-	3	5412	c.5377C>T	c.(5377-5379)Cgc>Tgc	p.R1793C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1793	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1793S(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)			TGCTCGTGGCGGGATCTTTGT	0.607									Ichthyosis				321	253					0	0	0	0	A	152281985	G	A	152281985	3	1	491	1	0	0	0	0	1	0	0	0	5967	1116	39	1	6812	1	FLG	1	152281985	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	1752320	152281985	96968636	10	94914											
SCAMP3	10067	broad.mit.edu	37	chr1	155226544	155226544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagcacggatactgctGtgttgcccttcggcaccacc	7	9	11	14	2	0	1	0	1	0	0	1	2	0	2	3	2	4	5	3	2	1	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155226544G>A	ENST00000355379.3	-	7	1018	c.740C>T	c.(739-741)aCa>aTa	p.T247I	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.T273I	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	273					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGATACTGCTGTGTTGCCCTT	0.557													40	33					0	0	0	0	A	155226544	G	A	155226544	3	1	491	1	0	0	0	0	1	0	0	0	13958	1377	48	4	233	4	SCAMP3	1	155226544	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	2944559	155226544	94024077	11	94915											
ASH1L	55870	broad.mit.edu	37	chr1	155316205	155316205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgggtcacactgctcaCaaaggtagtgctccacatct	9	10	9	13	0	3	0	2	0	1	0	4	0	4	0	2	2	2	3	2	2	2	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155316205C>G	ENST00000368346.3	-	21	8513	c.7874G>C	c.(7873-7875)tGt>tCt	p.C2625S	ASH1L_ENST00000392403.3_Missense_Mutation_p.C2620S|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2625					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACACTGCTCACAAAGGTAGTG	0.468													15	184					0	0	0	0	G	155316205	C	G	155316205	3	3	491	1	0	0	0	0	1	0	0	0	1045	478	17	4	1067	4	ASH1L	1	155316205	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	89661	155316205	93934416	12	94916											
KIAA0907	22889	broad.mit.edu	37	chr1	155893432	155893432	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactgtttgcaaaagatTctcacaaagcttcttggcag	12	12	7	10	0	3	1	2	0	2	1	4	1	3	1	0	1	2	4	0	1	3	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155893432T>G	ENST00000368320.3	-	8	965	c.940A>C	c.(940-942)Aat>Cat	p.N314H	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.N314H|KIAA0907_ENST00000368321.3_Missense_Mutation_p.N314H			Q7Z7F0	K0907_HUMAN	KIAA0907	314										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGCAAAAGATTCTCACAAAGC	0.388													26	91					0	0	0	0	G	155893432	T	G	155893432	3	3	491	1	0	0	0	0	1	0	0	0	8250	1783	62	5	932	5	KIAA0907	1	155893432	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	577227	155893432	93357189	13	94917											
SEC16B	89866	broad.mit.edu	37	chr1	177901895	177901895	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaggggaaggtgtcagtGagaggcccaggccagcctgg	9	5	17	10	0	2	1	2	1	0	1	2	3	2	2	3	6	1	0	3	6	1	0			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:177901895G>T	ENST00000308284.6	-	23	2959	c.2870C>A	c.(2869-2871)tCa>tAa	p.S957*	RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	957					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGGTGTCAGTGAGAGGCCCAG	0.587													5	35					3.59834e-05	3.70355e-05	1	0	T	177901895	G	T	177901895	4	4	491	1	0	0	0	0	0	1	0	0	14074	1294	45	2	328	2	SEC16B	1	177901895	Nonsense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	22008463	177901895	71348726	14	94918											
CFH	3075	broad.mit.edu	37	chr1	196706756	196706756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatgaaacaacatgctaCatgggaaaatggagttctcc	17	8	9	7	0	1	1	0	1	1	0	2	4	1	3	1	2	4	2	1	2	7	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:196706756C>T	ENST00000367429.4	+	17	2988	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	916	Sushi 15.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAACATGCTACATGGGAAAAT	0.358													11	105					0	0	0	0	T	196706756	C	T	196706756	2	4	491	1	0	0	0	0	0	0	0	1	3312	489	17	4		4	CFH	1	196706756	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	18804861	196706756	52543865	15	94919											
USH2A	7399	broad.mit.edu	37	chr1	216108138	216108138	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgtagttattacctaCtgattaaaaaagaaaattat	18	13	7	3	0	0	2	0	1	0	1	0	2	0	2	1	1	2	2	1	1	11	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:216108138C>A	ENST00000366943.2	-	38	7507		c.e38-1		USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTATTACCTACTGattaaaaa	0.318										HNSCC(13;0.011)			50	122					7.05377e-20	7.80794e-20	1	0	A	216108138	C	A	216108138	5	1	491	1	0	0	0	0	0	0	1	0	17132	579	20	4	8628	4	USH2A	1	216108138	Splice_Site	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	19401382	216108138	33142483	16	94920											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220369734	220369734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaagggggacagagtcAtaatacctaataaaaaaaaa	22	6	8	5	0	2	1	2	0	0	1	2	3	2	2	1	2	1	0	1	2	9	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:220369734A>G	ENST00000358951.2	-	10	934	c.818T>C	c.(817-819)aTg>aCg	p.M273T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	273					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GGACAGAGTCATAATACCTAA	0.328													34	125					0	0	0	0	G	220369734	A	G	220369734	3	3	491	1	0	0	0	0	1	0	0	0	13018	217	8	5	3467	5	RAB3GAP2	1	220369734	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	4261596	220369734	28880887	17	94921											
OR2L8	391190	broad.mit.edu	37	chr1	248112433	248112433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggaaacaagtctatcTccttcactgggtgtgggatt	9	13	11	8	0	3	0	1	0	2	0	4	2	3	2	1	3	2	1	1	3	3	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:248112433T>C	ENST00000357191.3	+	1	274	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAAGTCTATCTCCTTCACTGG	0.428													5	443					0	0	0	0	C	248112433	T	C	248112433	3	2	491	1	0	0	0	0	1	0	0	0	11080	1551	54	5	276	5	OR2L8	1	248112433	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	27742699	248112433	1138188	18	94922											
COLEC11	78989	broad.mit.edu	37	chr2	3691473	3691473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatggccgcatacctggCgcaagccggcctggcccgtg	5	6	14	16	4	0	1	0	1	0	0	0	1	0	1	6	4	2	2	6	4	2	1	rs139848694	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:3691473C>T	ENST00000403096.3	+	6	994	c.503C>T	c.(502-504)gCg>gTg	p.A168V	COLEC11_ENST00000349077.4_Missense_Mutation_p.A194V|COLEC11_ENST00000404205.1_Missense_Mutation_p.A120V|COLEC11_ENST00000236693.7_Missense_Mutation_p.A191V|COLEC11_ENST00000418971.2_Missense_Mutation_p.A208V|COLEC11_ENST00000402922.1_Missense_Mutation_p.A144V|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402794.1_Missense_Mutation_p.A144V|COLEC11_ENST00000382062.2_Missense_Mutation_p.A170V	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	194	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCATACCTGGCGCAAGCCGGC	0.662													8	58					0	0	0	0	T	3691473	C	T	3691473	3	4	491	1	0	0	0	0	1	0	0	0	3741	768	27	1	686	1	COLEC11	2	3691473	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08		3691473	239507900	19	94923											
ABHD1	84696	broad.mit.edu	37	chr2	27353219	27353219	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagccctagaaccaagaTagatgccatccggatccctg	13	6	9	13	1	0	3	0	0	0	3	2	4	2	4	5	1	4	1	5	1	5	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:27353219T>G	ENST00000316470.4	+	8	1055	c.941T>G	c.(940-942)aTa>aGa	p.I314R		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	314						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACCAAGATAGATGCCATC	0.522													72	176					0	0	0	0	G	27353219	T	G	27353219	3	3	491	1	0	0	0	0	1	0	0	0	73	1406	49	5	971	5	ABHD1	2	27353219	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	23661746	27353219	215846154	20	94924											
MAP4K4	9448	broad.mit.edu	37	chr2	102445969	102445969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttcctattcagggaCtggcacatcttcacattcat	8	15	6	12	0	5	0	3	0	2	0	6	1	6	1	1	2	0	1	1	2	1	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:102445969C>G	ENST00000413150.2	+	6	476	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	MAP4K4_ENST00000456652.1_Missense_Mutation_p.L141V|MAP4K4_ENST00000347699.4_Missense_Mutation_p.L141V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L141V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L121V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L141V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L141V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L141V	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	141	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TATTCAGGGACTGGCACATCT	0.413													8	18					0	0	0	0	G	102445969	C	G	102445969	3	3	491	1	0	0	0	0	1	0	0	0	9331	564	20	4	443	4	MAP4K4	2	102445969	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	75092750	102445969	140753404	21	94925											
DPP10	57628	broad.mit.edu	37	chr2	116257182	116257182	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggaaaacacaacttttgTaagtaatgaataattaatta	19	14	5	3	0	0	1	0	1	0	0	0	2	0	2	0	1	2	2	0	1	9	8			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:116257182T>A	ENST00000410059.1	+	4	846		c.e4+2		DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000488208.1_Splice_Site|DPP10_ENST00000409163.1_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACAACTTTTGTAAGTAATGAA	0.313													11	123					0	0	0	0	A	116257182	T	A	116257182	5	1	491	1	0	0	0	0	0	0	1	0	4763	1652	57	5	553	5	DPP10	2	116257182	Splice_Site	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	13811213	116257182	126942191	22	94926											
SCN7A	6332	broad.mit.edu	37	chr2	167273361	167273361	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacctttctccacttgtTgggtcaatgcattcatagaa	11	13	8	9	0	3	1	2	0	1	1	4	2	3	2	2	2	2	2	2	2	4	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:167273361T>A	ENST00000409855.1	-	20	3396	c.3270A>T	c.(3268-3270)ccA>ccT	p.P1090P		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1090					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCCACTTGTTGGGTCAATGC	0.398													7	54					0	0	0	0	A	167273361	T	A	167273361	2	1	491	1	0	0	0	0	0	0	0	1	14010	1799	63	5		5	SCN7A	2	167273361	Silent	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	51016179	167273361	75926012	23	94927											
ABCB11	8647	broad.mit.edu	37	chr2	169826657	169826657	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcggatgagggctctggcGatagctaccctttgtttctg	5	15	12	9	2	2	1	0	1	2	0	3	3	2	2	1	3	2	3	1	3	2	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:169826657G>A	ENST00000263817.6	-	15	1831	c.1707C>T	c.(1705-1707)atC>atT	p.I569I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	569	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GGGCTCTGGCGATAGCTACCC	0.512													48	62					0	0	0	0	A	169826657	G	A	169826657	2	1	491	1	0	0	0	0	0	0	0	1	42	1048	37	1		1	ABCB11	2	169826657	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	2553296	169826657	73372716	24	94928											
ZSWIM2	151112	broad.mit.edu	37	chr2	187694508	187694508	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagatgaaatgccttcaaAcaaagtagacactggtagcc	16	7	8	10	0	1	3	1	1	0	2	1	3	1	3	3	1	3	2	3	1	6	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:187694508A>G	ENST00000295131.2	-	8	1080	c.1041T>C	c.(1039-1041)tgT>tgC	p.C347C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	347					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATGCCTTCAAACAAAGTAGAC	0.398													16	139					0	0	0	0	G	187694508	A	G	187694508	2	3	491	1	0	0	0	0	0	0	0	1	18332	41	2	5		5	ZSWIM2	2	187694508	Silent	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	17867851	187694508	55504865	25	94929											
SDPR	8436	broad.mit.edu	37	chr2	192701389	192701389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcctccttcccttccaCggcaccggaaacgggctgtt	7	9	9	16	3	0	0	0	0	0	0	4	1	4	1	5	3	2	4	5	3	2	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:192701389C>T	ENST00000304141.4	-	2	867	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	180						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCCCTTCCACGGCACCGGAA	0.498													4	81					0	0	0	0	T	192701389	C	T	192701389	3	4	491	1	0	0	0	0	1	0	0	0	14057	536	19	1	743	1	SDPR	2	192701389	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	5006881	192701389	50497984	26	94930											
MAP2	4133	broad.mit.edu	37	chr2	210574887	210574887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgactcccaagcagcttcGgcttattaaccaaccactgc	10	9	7	15	2	0	0	0	0	0	0	2	1	1	0	3	1	6	3	3	1	4	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:210574887G>A	ENST00000360351.4	+	12	5488	c.4982G>A	c.(4981-4983)cGg>cAg	p.R1661Q	MAP2_ENST00000392194.1_Missense_Mutation_p.R305Q|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Missense_Mutation_p.R305Q|MAP2_ENST00000447185.1_Missense_Mutation_p.R1657Q|MAP2_ENST00000199940.6_Missense_Mutation_p.R362Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1661					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGCAGCTTCGGCTTATTAAC	0.493													12	30					0	0	0	0	A	210574887	G	A	210574887	3	1	491	1	0	0	0	0	1	0	0	0	9304	1116	39	1	5191	1	MAP2	2	210574887	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	17873498	210574887	32624486	27	94931											
CPS1	1373	broad.mit.edu	37	chr2	211523412	211523412	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaggaaatgatgtcttGgtaagaaatgccaaggtgcc	14	9	12	6	0	2	2	1	1	1	1	2	3	2	3	2	3	2	1	2	3	5	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:211523412G>C	ENST00000233072.5	+	31	3952	c.3756_splice	c.e31+1	p.L1252_splice	CPS1_ENST00000451903.2_Splice_Site_p.L801_splice|CPS1_ENST00000430249.2_Splice_Site_p.L1258_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1252	ATP-grasp 2.				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			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)		ATGATGTCTTGGTAAGAAATG	0.443													8	113					0	0	0	0	C	211523412	G	C	211523412	5	2	491	1	0	0	0	0	0	0	1	0	3853	1362	47	4	3900	4	CPS1	2	211523412	Splice_Site	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	948525	211523412	31675961	28	94932											
SCLY	51540	broad.mit.edu	37	chr2	238990769	238990769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccatcctcgtgcacacGgatgctgcacaggccttggg	6	8	11	16	2	0	0	0	0	0	0	3	1	2	1	4	3	3	3	4	3	0	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:238990769G>A	ENST00000254663.6	+	6	862	c.720G>A	c.(718-720)acG>acA	p.T240T	SCLY_ENST00000373332.3_Silent_p.T150T|SCLY_ENST00000555827.1_Silent_p.T232T|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Silent_p.T138T|SCLY_ENST00000409736.2_Silent_p.T232T	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	232					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TCGTGCACACGGATGCTGCAC	0.592													8	155					0	0	0	0	A	238990769	G	A	238990769	2	1	491	1	0	0	0	0	0	0	0	1	13994	1103	39	1		1	SCLY	2	238990769	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	27467357	238990769	4208604	29	94933											
SCN5A	6331	broad.mit.edu	37	chr3	38622444	38622444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctggactcctcctccGtgcccaggctgttctcctca	3	12	9	17	1	2	0	1	0	1	0	6	1	5	1	5	2	2	4	5	2	0	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:38622444G>A	ENST00000413689.1	-	17	3399	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	SCN5A_ENST00000443581.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1069M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1069M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1069					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCTCCGTGCCCAGGCT	0.627													29	21					0	0	0	0	A	38622444	G	A	38622444	3	1	491	1	0	0	0	0	1	0	0	0	14009	1145	40	1	2892	1	SCN5A	3	38622444	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		38622444	159399986	30	94934											
CADPS	8618	broad.mit.edu	37	chr3	62570911	62570911	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcggacagcaagtttgattTtgagatcttggtcggggcag	8	13	14	6	2	1	2	0	2	1	1	3	4	1	3	0	4	1	3	0	4	1	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:62570911T>G	ENST00000383710.4	-	8	1875	c.1526A>C	c.(1525-1527)aAa>aCa	p.K509T	CADPS_ENST00000283269.9_Missense_Mutation_p.K509T|CADPS_ENST00000357948.3_Missense_Mutation_p.K509T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	509					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGTTTGATTTTGAGATCTTG	0.463													15	116					0	0	0	0	G	62570911	T	G	62570911	3	3	491	1	0	0	0	0	1	0	0	0	2595	1841	64	5	2700	5	CADPS	3	62570911	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	23948467	62570911	135451519	31	94935											
ZBTB11	27107	broad.mit.edu	37	chr3	101383452	101383452	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcgtatcgtctctgaaaaAccattccacattccccacat	11	10	6	14	2	1	1	0	1	1	0	5	1	3	1	4	1	1	1	4	1	3	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:101383452A>T	ENST00000312938.4	-	5	2310	c.1730T>A	c.(1729-1731)gTt>gAt	p.V577D		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCTGAAAAACCATTCCACA	0.363													12	238					0	0	0	0	T	101383452	A	T	101383452	3	4	491	1	0	0	0	0	1	0	0	0	17619	43	2	5	1459	5	ZBTB11	3	101383452	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	38812541	101383452	96638978	32	94936											
KALRN	8997	broad.mit.edu	37	chr3	124215244	124215244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggacctctcagaacaCagtggacagtgacaaggtag	13	8	11	9	0	2	2	1	1	2	1	3	4	2	4	1	3	1	1	1	3	4	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:124215244C>A	ENST00000360013.3	+	33	5040	c.4913C>A	c.(4912-4914)aCa>aAa	p.T1638K	KALRN_ENST00000460856.1_Missense_Mutation_p.T1629K|KALRN_ENST00000240874.3_Missense_Mutation_p.T1638K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1638					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTCAGAACACAGTGGACAGT	0.532													4	83					0.150653	0.150653	1	0	A	124215244	C	A	124215244	3	1	491	1	0	0	0	0	1	0	0	0	8028	478	17	4	5043	4	KALRN	3	124215244	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	22831792	124215244	73807186	33	94937											
TRIM42	287015	broad.mit.edu	37	chr3	140401991	140401991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcagcgccatcgccaaGttcaaagcaggtcctcccct	8	9	7	17	2	3	0	2	0	1	0	6	0	5	0	5	1	2	2	5	1	2	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:140401991G>A	ENST00000286349.3	+	2	1220	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	343						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCATCGCCAAGTTCAAAGCAG	0.542													17	46					0	0	0	0	A	140401991	G	A	140401991	2	1	491	1	0	0	0	0	0	0	0	1	16612	1020	36	4		4	TRIM42	3	140401991	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	16186747	140401991	57620439	34	94938											
VEPH1	79674	broad.mit.edu	37	chr3	156979061	156979061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttattgtctgtgaagatttcGaaagcccgggggagagagcg	10	10	15	6	3	1	3	0	1	1	2	2	6	1	4	1	2	2	0	1	2	3	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:156979061G>A	ENST00000362010.2	-	14	2671	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	VEPH1_ENST00000543418.1_Silent_p.F743F|VEPH1_ENST00000392832.2_Silent_p.F788F|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Silent_p.F743F|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	788	PH.					plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGAAGATTTCGAAAGCCCGGG	0.502													33	66					0	0	0	0	A	156979061	G	A	156979061	2	1	491	1	0	0	0	0	0	0	0	1	17250	1049	37	1		1	VEPH1	3	156979061	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	16577070	156979061	41043369	35	94939											
KNG1	3827	broad.mit.edu	37	chr3	186461543	186461543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacccccaaaggcaggggCagagccagcatctgagaggg	11	3	15	12	1	1	2	0	1	1	2	2	4	1	2	3	4	2	3	3	4	1	0			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:186461543C>A	ENST00000287611.2	+	11	1520	c.1253C>A	c.(1252-1254)gCa>gAa	p.A418E	RP11-573D15.8_ENST00000596632.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.A382E|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA	NM_000893.3	NP_000884.1	P01042	KNG1_HUMAN	kininogen 1	409					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AAGGCAGGGGCAGAGCCAGCA	0.498													6	56					0.0293803	0.0295482	1	0	A	186461543	C	A	186461543	3	1	491	1	0	0	0	0	1	0	0	0	8479	710	25	4	2027	4	KNG1	3	186461543	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	29482482	186461543	11560887	36	94940											
FAM193A	8603	broad.mit.edu	37	chr4	2733563	2733563	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatcaactggtccaattttAgcttgaaaaaagccaccttt	13	13	5	10	0	1	1	1	1	0	0	2	1	2	1	3	1	3	1	3	1	7	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:2733563A>T	ENST00000324666.5	+	20	4117	c.3766A>T	c.(3766-3768)Agc>Tgc	p.S1256C	FAM193A_ENST00000505311.1_3'UTR|FAM193A_ENST00000502458.1_Missense_Mutation_p.S1237C|FAM193A_ENST00000382839.3_Missense_Mutation_p.S1215C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1256										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTCCAATTTTAGCTTGAAAAA	0.527													185	213					0	0	0	0	T	2733563	A	T	2733563	3	4	491	1	0	0	0	0	1	0	0	0	5567	420	15	5	3709	5	FAM193A	4	2733563	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08		2733563	188420713	37	94941											
KLF3	51274	broad.mit.edu	37	chr4	38690369	38690369	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcggagttcacccccttCggctgggaattcgccctcct	6	9	10	16	3	1	0	1	0	0	0	4	2	2	2	4	3	1	2	4	3	2	3	rs150818202		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:38690369C>A	ENST00000261438.5	+	3	526	c.221C>A	c.(220-222)tCg>tAg	p.S74*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.S74*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	74	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TCACCCCCTTCGGCTGGGAAT	0.562													20	42					3.99206e-14	4.31044e-14	1	0	A	38690369	C	A	38690369	4	1	491	1	0	0	0	0	0	1	0	0	8399	893	31	3	227	3	KLF3	4	38690369	Nonsense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	35956806	38690369	152463907	38	94942											
SCFD2	152579	broad.mit.edu	37	chr4	54231861	54231861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaggatctccacggtccggCctttcagcaggcagctcagc	7	8	12	14	2	3	0	2	0	1	0	5	1	4	1	3	4	3	4	3	4	1	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:54231861C>T	ENST00000401642.3	-	1	381	c.248G>A	c.(247-249)gGc>gAc	p.G83D	SCFD2_ENST00000388940.4_Missense_Mutation_p.G83D	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	83					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CACGGTCCGGCCTTTCAGCAG	0.592													23	41					0	0	0	0	T	54231861	C	T	54231861	3	4	491	1	0	0	0	0	1	0	0	0	13976	739	26	4	1842	4	SCFD2	4	54231861	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	15541492	54231861	136922415	39	94943											
SLC4A4	8671	broad.mit.edu	37	chr4	72338564	72338564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttttcctctctgattagcTtcatctttatctatgatgct	6	20	5	10	0	4	2	1	2	3	0	6	2	5	2	1	0	2	3	1	0	3	7			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:72338564T>C	ENST00000340595.3	+	11	1844	c.1648T>C	c.(1648-1650)Ttc>Ctc	p.F550L	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.F594L|SLC4A4_ENST00000264485.5_Missense_Mutation_p.F594L|SLC4A4_ENST00000512686.1_Missense_Mutation_p.F550L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.F594L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	594						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCTGATTAGCTTCATCTTTAT	0.443													61	108					0	0	0	0	C	72338564	T	C	72338564	3	2	491	1	0	0	0	0	1	0	0	0	14744	1609	56	5	1951	5	SLC4A4	4	72338564	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	18106703	72338564	118815712	40	94944											
MRPL1	65008	broad.mit.edu	37	chr4	78815401	78815401	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaatatccaaagctttctCgaagtaagagaattcctatt	17	12	5	7	1	1	1	0	0	1	1	4	3	3	1	2	0	1	2	2	0	8	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:78815401C>T	ENST00000315567.8	+	6	996	c.667C>T	c.(667-669)Cga>Tga	p.R223*	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	223							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAAGCTTTCTCGAAGTAAGAG	0.318													27	120					0	0	0	0	T	78815401	C	T	78815401	4	4	491	1	0	0	0	0	0	1	0	0	9844	876	31	1	689	1	MRPL1	4	78815401	Nonsense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	6476837	78815401	112338875	41	94945											
BMPR1B	658	broad.mit.edu	37	chr4	96025719	96025719	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagtcaacaatatttgcagGttggtgatataaatgattta	14	15	8	4	0	2	2	2	2	0	0	2	2	2	2	0	2	2	2	0	2	7	7			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:96025719G>A	ENST00000515059.1	+	4	426		c.e4+1		BMPR1B_ENST00000502683.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000394931.1_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATATTTGCAGGTTGGTGATAT	0.413													21	66					0	0	0	0	A	96025719	G	A	96025719	5	1	491	1	0	0	0	0	0	0	1	0	1475	1275	44	4	146	4	BMPR1B	4	96025719	Splice_Site	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	17210318	96025719	95128557	42	94946											
LRBA	987	broad.mit.edu	37	chr4	151242354	151242354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacttaccaggaaggttgTgccatttgttcaccgcaaat	10	14	8	9	1	1	0	1	0	0	0	1	1	1	1	3	2	3	3	3	2	4	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:151242354T>C	ENST00000535741.1	-	50	8092	c.7619A>G	c.(7618-7620)cAc>cGc	p.H2540R	LRBA_ENST00000507224.1_Missense_Mutation_p.H2540R|LRBA_ENST00000510413.1_Missense_Mutation_p.H2540R|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.H2551R			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2551						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGAAGGTTGTGCCATTTGTT	0.443													22	99					0	0	0	0	C	151242354	T	C	151242354	3	2	491	1	0	0	0	0	1	0	0	0	8995	1696	59	5	971	5	LRBA	4	151242354	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	55216635	151242354	39911922	43	94947											
FSTL5	56884	broad.mit.edu	37	chr4	162307559	162307559	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatggtttcaagatcaatTttttgtagtgcagcttcatc	10	16	8	7	0	3	1	3	0	0	1	4	2	3	1	0	1	2	4	0	1	3	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:162307559T>A	ENST00000306100.5	-	16	2320	c.1884A>T	c.(1882-1884)aaA>aaT	p.K628N	FSTL5_ENST00000536695.1_Missense_Mutation_p.K627N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K618N|FSTL5_ENST00000379164.4_Missense_Mutation_p.K627N|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	628						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAAGATCAATTTTTTGTAGTG	0.358													42	47					0	0	0	0	A	162307559	T	A	162307559	3	1	491	1	0	0	0	0	1	0	0	0	6128	1838	64	5	663	5	FSTL5	4	162307559	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	11065205	162307559	28846717	44	94948											
CDH9	1007	broad.mit.edu	37	chr5	26906947	26906947	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttacttgtataacagatgtaCctacatgaaacccccatccc	13	11	4	13	0	0	2	0	1	0	1	1	2	1	2	4	0	5	2	4	0	6	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:26906947C>T	ENST00000231021.4	-	4	696	c.523_splice	c.e4-1	p.G175_splice		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	175	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AACAGATGTACCTACATGAAA	0.373													29	85					0	0	0	0	T	26906947	C	T	26906947	5	4	491	1	0	0	0	0	0	0	1	0	3146	521	18	4	1881	4	CDH9	5	26906947	Splice_Site	SNP	C	TCGA-UF-A719-01A-12D-A34J-08		26906947	154008313	45	94949											
PARP8	79668	broad.mit.edu	37	chr5	50090900	50090900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctatgacagcaattaaatcGcacaaacttttgaaccgtcc	14	10	6	11	2	0	2	0	2	0	0	2	2	1	2	2	0	3	3	2	0	6	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:50090900G>A	ENST00000281631.5	+	12	1235	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S	PARP8_ENST00000505554.1_Silent_p.S338S|PARP8_ENST00000514342.2_Silent_p.S112S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Silent_p.S359S|PARP8_ENST00000505697.2_Silent_p.S359S|PARP8_ENST00000514067.2_Silent_p.S359S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	359						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAATTAAATCGCACAAACTTT	0.488													23	81					0	0	0	0	A	50090900	G	A	50090900	2	1	491	1	0	0	0	0	0	0	0	1	11536	1074	38	1		1	PARP8	5	50090900	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	23183953	50090900	130824360	46	94950											
TRIM23	373	broad.mit.edu	37	chr5	64913958	64913958	+	Missense_Mutation	SNP	G	G	A																															gatcaaatgggcaacggattGctcttccatgaagaggtagg																										TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:64913958G>A	ENST00000231524.9	-	2	577	c.206C>T	c.(205-207)gCa>gTa	p.A69V	TRIM23_ENST00000274327.7_Missense_Mutation_p.A69V|TRIM23_ENST00000381018.3_Missense_Mutation_p.A69V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	69					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GCAACGGATTGCTCTTCCATG	0.413													15	78					0	0	0	0	A	64913958	G	A	64913958	3	1	491	1	0	0	0	0	1	0	0	0	16592	1319	46	4	1625	4	TRIM23	5	64913958	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	14823058	64913958	116001302	47	94951	1132	2									
TRIM23	373	broad.mit.edu	37	chr5	64913959	64913959	+	Missense_Mutation	SNP	C	C	T																															atcaaatgggcaacggattgCtcttccatgaagaggtaggc																										TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:64913959C>T	ENST00000231524.9	-	2	576	c.205G>A	c.(205-207)Gca>Aca	p.A69T	TRIM23_ENST00000274327.7_Missense_Mutation_p.A69T|TRIM23_ENST00000381018.3_Missense_Mutation_p.A69T	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	69					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CAACGGATTGCTCTTCCATGA	0.408													15	81					0	0	0	0	T	64913959	C	T	64913959	3	4	491	1	0	0	0	0	1	0	0	0	16592	797	28	4	1626	4	TRIM23	5	64913959	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	1	64913959	116001301	48	94952	1132	2									
LNPEP	4012	broad.mit.edu	37	chr5	96322292	96322292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaggatgagttttctgAgagtgtgaagatgagcactt	10	14	13	4	0	2	5	1	4	1	2	2	7	2	6	0	1	1	3	0	1	1	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:96322292A>G	ENST00000231368.5	+	4	1741	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	LNPEP_ENST00000395770.3_Missense_Mutation_p.E336G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	350					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGTTTTCTGAGAGTGTGAAG	0.413													33	98					0	0	0	0	G	96322292	A	G	96322292	3	3	491	1	0	0	0	0	1	0	0	0	8919	304	11	5	1063	5	LNPEP	5	96322292	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	31408333	96322292	84592968	49	94953											
RIOK2	55781	broad.mit.edu	37	chr5	96512862	96512865	+	Frame_Shift_Del	DEL	ATAT	ATAT	-																															atggcagagagacgagataaAtatagccatgacacattgtg																								rs2548319	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:96512862_96512865delATAT	ENST00000283109.3	-	4	521_524	c.453_456delATAT	c.(451-456)ctfs	p.LY151fs	RIOK2_ENST00000508447.1_Frame_Shift_Del_p.LY151fs|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	151							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		GACGAGATAAATATAGCCATGACA	0.328													39	154	---	---	---	---					-	96512865	ATAT	-	96512862	7	5	491	1	0	1	0	1	0	0	0	0	13463	108	4	0	1258	0	RIOK2	5	96512862	Frame_Shift_Del	DEL	ATAT	TCGA-UF-A719-01A-12D-A34J-08	190570	96512862	84402398	50	94954											
MCC	4163	broad.mit.edu	37	chr5	112487041	112487041	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttccagaaggtcccGttccctctctgtttgctgga	4	17	8	12	1	2	1	0	0	2	1	6	2	5	2	3	2	1	3	3	2	1	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:112487041G>A	ENST00000515367.2	-	0	319				MCC_ENST00000408903.3_Missense_Mutation_p.R236W|MCC_ENST00000302475.4_Missense_Mutation_p.R46W|MCC_ENST00000514701.3_5'UTR			P23508	CRCM_HUMAN	mutated in colorectal cancers						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGAAGGTCCCGTTCCCTCTCT	0.413													20	57					0	0	0	0	A	112487041	G	A	112487041	1	1	491	1	0	0	0	0	0	0	0	0	9442	1144	40	1		1	MCC	5	112487041	Translation_Start_Site	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	15974179	112487041	68428219	51	94955											
MARCH3	115123	broad.mit.edu	37	chr5	126206380	126206380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggaggcccagcaaggacGgctggttagaaggtacattg	12	7	15	7	1	0	1	0	0	0	1	0	3	0	3	1	6	2	4	1	6	5	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:126206380G>A	ENST00000308660.5	-	5	1221	c.707C>T	c.(706-708)cCg>cTg	p.P236L		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	236					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CAGCAAGGACGGCTGGTTAGA	0.463													33	44					0	0	0	0	A	126206380	G	A	126206380	3	1	491	1	0	0	0	0	1	0	0	0	9371	1116	39	1	58	1	MARCH3	5	126206380	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	13719339	126206380	54708880	52	94956											
PCDHA12	56137	broad.mit.edu	37	chr5	140256512	140256512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatgggacgcggacgcgcaGaagaacgcgctggtgtccta	9	5	16	11	6	0	2	0	0	0	2	1	4	1	4	1	3	1	3	1	3	3	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:140256512G>A	ENST00000398631.2	+	1	1455	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACGCGCAGAAGAACGCGC	0.667													7	127					0	0	0	0	A	140256512	G	A	140256512	2	1	491	1	0	0	0	0	0	0	0	1	11593	933	33	2		2	PCDHA12	5	140256512	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	14050132	140256512	40658748	53	94957											
NSD1	64324	broad.mit.edu	37	chr5	176675267	176675267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatcccgggatgcctgcctCtaaaaaaatgcagggtgaac	12	7	11	11	2	1	1	0	1	1	0	2	3	2	2	3	2	4	1	3	2	5	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:176675267C>A	ENST00000439151.2	+	11	4628	c.4583C>A	c.(4582-4584)tCt>tAt	p.S1528Y	NSD1_ENST00000347982.4_Missense_Mutation_p.S1259Y|NSD1_ENST00000354179.4_Missense_Mutation_p.S1259Y|NSD1_ENST00000361032.4_Missense_Mutation_p.S1425Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1528					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCCTGCCTCTAAAAAAATG	0.493			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	9					2.98393e-07	3.12602e-07	1	0	A	176675267	C	A	176675267	3	1	491	1	0	0	0	0	1	0	0	0	10740	913	32	2	4621	2	NSD1	5	176675267	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	36418755	176675267	4239993	54	94958											
HIVEP1	3096	broad.mit.edu	37	chr6	12120177	12120177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccttaaaggtgtgaaacGcaaaaagatcgtagctgaga	16	8	10	7	2	0	3	0	2	0	2	2	4	1	3	1	1	2	3	1	1	6	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:12120177G>C	ENST00000379388.2	+	4	481	c.149G>C	c.(148-150)cGc>cCc	p.R50P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	50					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGTGTGAAACGCAAAAAGATC	0.363													72	379					0	0	0	0	C	12120177	G	C	12120177	3	2	491	1	0	0	0	0	1	0	0	0	7236	1087	38	3	159	3	HIVEP1	6	12120177	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		12120177	158994890	55	94959											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839984	27839984	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcggtagcggtggggcttcTtgacgccaccggtggccgga	4	7	19	11	5	1	1	0	1	1	0	1	2	1	2	3	8	1	2	3	8	1	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:27839984T>A	ENST00000328488.2	-	1	115	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGCTTCTTGACGCCACC	0.672													36	89					0	0	0	0	A	27839984	T	A	27839984	3	1	491	1	0	0	0	0	1	0	0	0	7213	1609	56	5	304	5	HIST1H3I	6	27839984	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	15719807	27839984	143275083	56	94960											
SESN1	27244	broad.mit.edu	37	chr6	109323525	109323525	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccctgtcctagtggtcGaggaattctaatgccaagtt	8	13	11	9	1	1	0	0	0	1	0	4	2	3	1	3	3	1	1	3	3	4	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:109323525G>T	ENST00000436639.2	-	2	1046	c.301C>A	c.(301-303)Cga>Aga	p.R101R	SESN1_ENST00000356644.7_Silent_p.R42R|SESN1_ENST00000302071.2_5'UTR	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	42					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CCTAGTGGTCGAGGAATTCTA	0.413													31	28					3.03874e-20	3.38493e-20	1	0	T	109323525	G	T	109323525	2	4	491	1	0	0	0	0	0	0	0	1	14211	1066	37	3		3	SESN1	6	109323525	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	81483541	109323525	61791542	57	94961											
SLC22A16	85413	broad.mit.edu	37	chr6	110763810	110763810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggacagtcactgtggagaGgatcatctggtaaagccacc	11	7	14	9	0	3	1	2	0	1	1	3	4	3	3	2	5	1	1	2	5	2	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:110763810G>C	ENST00000368919.3	-	4	886	c.820C>G	c.(820-822)Ctc>Gtc	p.L274V	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L274V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.L240V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	274					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACTGTGGAGAGGATCATCTGG	0.493													17	69					0	0	0	0	C	110763810	G	C	110763810	3	2	491	1	0	0	0	0	1	0	0	0	14535	1000	35	4	933	4	SLC22A16	6	110763810	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	1440285	110763810	60351257	58	94962											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912799	111912799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtctgctgaggcattaGgtaaactttggtctgatttg	9	14	13	5	0	2	2	0	2	2	0	2	3	2	3	0	4	2	3	0	4	3	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:111912799G>C	ENST00000368761.5	-	2	969	c.491C>G	c.(490-492)cCt>cGt	p.P164R	TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P173R|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P164R|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	173					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TGAGGCATTAGGTAAACTTTG	0.517													5	136					0	0	0	0	C	111912799	G	C	111912799	3	2	491	1	0	0	0	0	1	0	0	0	16536	1000	35	4	1238	4	TRAF3IP2	6	111912799	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	1148989	111912799	59202268	59	94963											
AKAP12	9590	broad.mit.edu	37	chr6	151671662	151671662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatgggaggagaccaccaGaaagctgatgaggccggaaa	15	3	15	8	1	0	4	0	2	0	2	0	7	0	6	3	4	1	2	3	4	3	0			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:151671662G>A	ENST00000402676.2	+	4	2376	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	AKAP12_ENST00000359755.5_Silent_p.Q607Q|AKAP12_ENST00000253332.1_Silent_p.Q712Q|AKAP12_ENST00000354675.6_Silent_p.Q614Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	712					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGACCACCAGAAAGCTGATG	0.537													76	90					0	0	0	0	A	151671662	G	A	151671662	2	1	491	1	0	0	0	0	0	0	0	1	448	933	33	2		2	AKAP12	6	151671662	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	39758863	151671662	19443405	60	94964											
SYNE1	23345	broad.mit.edu	37	chr6	152652079	152652079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatgtaacaatatctgCttgttttagccagtggcaag	13	12	10	6	0	1	0	0	0	1	0	1	1	1	1	1	2	3	4	1	2	6	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:152652079C>G	ENST00000367255.5	-	78	14342	c.13741G>C	c.(13741-13743)Gca>Cca	p.A4581P	SYNE1_ENST00000423061.1_Missense_Mutation_p.A4510P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4581P|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4510P|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4328P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4581					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAATATCTGCTTGTTTTAGC	0.363										HNSCC(10;0.0054)			42	174					0	0	0	0	G	152652079	C	G	152652079	3	3	491	1	0	0	0	0	1	0	0	0	15536	797	28	4	13001	4	SYNE1	6	152652079	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	980417	152652079	18462988	61	94965											
TCP1	6950	broad.mit.edu	37	chr6	160200112	160200112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagagtgaacagcatcttCataacttccatgtttatcat	12	14	5	10	0	3	2	2	1	1	1	5	2	5	2	2	0	3	2	2	0	3	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:160200112C>T	ENST00000321394.7	-	12	1916	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	TCP1_ENST00000544255.1_Missense_Mutation_p.E322K|ACAT2_ENST00000541436.1_3'UTR|TCP1_ENST00000392168.2_Missense_Mutation_p.E391K|TCP1_ENST00000420894.2_3'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	546					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACAGCATCTTCATAACTTCCA	0.323													8	151					0	0	0	0	T	160200112	C	T	160200112	3	4	491	1	0	0	0	0	1	0	0	0	15803	835	29	2	38	2	TCP1	6	160200112	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	7548033	160200112	10914955	62	94966											
EIF2AK1	27102	broad.mit.edu	37	chr7	6085709	6085709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaatcataccttcatgCaaactgttttagttgcaccc	13	14	4	10	0	2	0	2	0	0	0	2	0	2	0	2	0	4	4	2	0	6	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:6085709C>T	ENST00000199389.6	-	6	769	c.623G>A	c.(622-624)tGc>tAc	p.C208Y	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.C84Y	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	208	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TACCTTCATGCAAACTGTTTT	0.259													6	71					0	0	0	0	T	6085709	C	T	6085709	3	4	491	1	0	0	0	0	1	0	0	0	5032	710	25	4	1309	4	EIF2AK1	7	6085709	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08		6085709	153052954	63	94967											
COBL	23242	broad.mit.edu	37	chr7	51095537	51095537	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcggcccaaaaatgctggGtggccaaatactgtctgttt	9	12	10	10	1	1	0	0	0	1	0	2	0	1	0	2	3	2	2	2	3	4	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:51095537G>C	ENST00000395542.2	-	12	3686	c.3502C>G	c.(3502-3504)Ccc>Gcc	p.P1168A	COBL_ENST00000265136.7_Missense_Mutation_p.P1086A			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1086	WH2 2.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAAATGCTGGGTGGCCAAATA	0.488													18	147					0	0	0	0	C	51095537	G	C	51095537	3	2	491	1	0	0	0	0	1	0	0	0	3683	1261	44	4	545	4	COBL	7	51095537	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	45009828	51095537	108043126	64	94968											
LAMB1	3912	broad.mit.edu	37	chr7	107638831	107638831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccaccaaatcttaaggCggtttggagcaaatgtagtg	12	11	11	7	1	1	0	0	0	1	0	1	1	1	1	2	3	2	3	2	3	4	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:107638831C>T	ENST00000393561.1	-	2	576	c.392G>A	c.(391-393)cGc>cAc	p.R131H	LAMB1_ENST00000393560.1_Missense_Mutation_p.R107H|LAMB1_ENST00000222399.6_Missense_Mutation_p.R107H			P07942	LAMB1_HUMAN	laminin, beta 1	107	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.R107H(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCTTAAGGCGGTTTGGAGC	0.433													55	138					0	0	0	0	T	107638831	C	T	107638831	3	4	491	1	0	0	0	0	1	0	0	0	8663	768	27	1	5164	1	LAMB1	7	107638831	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	56543294	107638831	51499832	65	94969											
ZNF775	285971	broad.mit.edu	37	chr7	150093929	150093929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggttcagctggtggtcGtccctgaagatccaccagcg	9	8	13	11	2	1	3	1	1	0	2	4	3	3	3	3	3	2	2	3	3	2	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:150093929G>A	ENST00000329630.5	+	3	467	c.360G>A	c.(358-360)tcG>tcA	p.S120S		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGTGGTCGTCCCTGAAGA	0.672													5	32					0	0	0	0	A	150093929	G	A	150093929	2	1	491	1	0	0	0	0	0	0	0	1	18241	1132	40	1		1	ZNF775	7	150093929	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	42455098	150093929	9044734	66	94970											
HTR5A	3361	broad.mit.edu	37	chr7	154862765	154862765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgggctttctggtggcGgcgacgttcgcctggaacct	3	12	15	11	4	1	0	0	0	1	0	2	2	1	1	2	5	2	3	2	5	1	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:154862765G>A	ENST00000287907.2	+	1	732	c.156G>A	c.(154-156)gcG>gcA	p.A52A	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_Silent_p.A83A|AC093726.4_ENST00000543018.1_Silent_p.A83A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	52						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCTGGTGGCGGCGACGTTCG	0.647													33	53					0	0	0	0	A	154862765	G	A	154862765	2	1	491	1	0	0	0	0	0	0	0	1	7503	1103	39	1		1	HTR5A	7	154862765	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	4768836	154862765	4275898	67	94971											
CNOT7	29883	broad.mit.edu	37	chr8	17088314	17088314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccaaggccatacaaaTgaccacaatatttggcatca	17	7	6	11	0	1	2	1	1	0	1	1	2	1	2	3	2	2	1	3	2	6	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:17088314T>C	ENST00000361272.4	-	7	1071	c.773A>G	c.(772-774)cAt>cGt	p.H258R		NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	258					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GCCATACAAATGACCACAATA	0.353													9	90					0	0	0	0	C	17088314	T	C	17088314	3	2	491	1	0	0	0	0	1	0	0	0	3654	1464	51	5	88	5	CNOT7	8	17088314	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08		17088314	129275708	68	94972											
XKR9	389668	broad.mit.edu	37	chr8	71593320	71593320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatactaaacagaattttatGatgtcagttcttggcattat	13	17	6	5	0	2	2	1	1	1	1	2	2	2	2	0	1	2	2	0	1	7	8			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:71593320G>T	ENST00000408926.3	+	3	561	c.27G>T	c.(25-27)atG>atT	p.M9I	XKR9_ENST00000520030.1_Missense_Mutation_p.M9I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	9						integral to membrane				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)			AGAATTTTATGATGTCAGTTC	0.308													61	127					8.52529e-16	9.26204e-16	1	0	T	71593320	G	T	71593320	3	4	491	1	0	0	0	0	1	0	0	0	17534	1290	45	2	29	2	XKR9	8	71593320	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	54505006	71593320	74770702	69	94973											
WWP1	11059	broad.mit.edu	37	chr8	87470217	87470217	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatactgtttatcgacattAtacaagaaacagcaagcaaa	20	9	5	7	1	0	1	0	0	0	1	1	2	0	1	0	0	5	3	0	0	9	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:87470217A>G	ENST00000517970.1	+	22	2769	c.2462A>G	c.(2461-2463)tAt>tGt	p.Y821C	WWP1_ENST00000349423.2_Missense_Mutation_p.Y603C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y821C|WWP1_ENST00000341922.2_Missense_Mutation_p.Y691C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	821	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TATCGACATTATACAAGAAAC	0.368													30	102					0	0	0	0	G	87470217	A	G	87470217	3	3	491	1	0	0	0	0	1	0	0	0	17511	449	16	5	2540	5	WWP1	8	87470217	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	15876897	87470217	58893805	70	94974											
PKHD1L1	93035	broad.mit.edu	37	chr8	110467081	110467081	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaatcctggatctgcacGgtactgtggccaagtggcta	9	9	14	9	1	1	0	0	0	1	0	2	2	2	2	2	5	2	3	2	5	4	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:110467081G>A	ENST00000378402.5	+	45	6978	c.6874_splice	c.e45+1	p.G2292_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2292	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGATCTGCACGGTACTGTGGC	0.493										HNSCC(38;0.096)			23	42					0	0	0	0	A	110467081	G	A	110467081	5	1	491	1	0	0	0	0	0	0	1	0	12044	1130	39	1	7052	1	PKHD1L1	8	110467081	Splice_Site	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	22996864	110467081	35896941	71	94975											
CSMD3	114788	broad.mit.edu	37	chr8	113484897	113484897	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggatagtttggtgatagaAcagtgccttctgaacctgtt	9	15	11	6	0	1	3	0	2	1	1	1	4	1	4	2	2	3	2	2	2	4	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:113484897A>T	ENST00000297405.5	-	32	5562	c.5318T>A	c.(5317-5319)gTt>gAt	p.V1773D	CSMD3_ENST00000343508.3_Missense_Mutation_p.V1733D|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1773D|CSMD3_ENST00000455883.2_Missense_Mutation_p.V1669D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1773	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTGATAGAACAGTGCCTTC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			99	131					0	0	0	0	T	113484897	A	T	113484897	3	4	491	1	0	0	0	0	1	0	0	0	3978	43	2	5	5965	5	CSMD3	8	113484897	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	3017816	113484897	32879125	72	94976											
DGAT1	8694	broad.mit.edu	37	chr8	145541642	145541642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagcggggaaagttgagctCgtagcacaaggtgggggcga	11	5	19	6	3	0	2	0	1	0	1	1	4	0	3	0	5	3	4	0	5	3	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:145541642C>T	ENST00000332324.4	-	9	1063	c.790G>A	c.(790-792)Gag>Aag	p.E264K	DGAT1_ENST00000531896.1_Missense_Mutation_p.R294Q	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	264					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AAGTTGAGCTCGTAGCACAAG	0.627													12	68					0	0	0	0	T	145541642	C	T	145541642	3	4	491	1	0	0	0	0	1	0	0	0	4494	893	31	1	712	1	DGAT1	8	145541642	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	32056745	145541642	822380	73	94977											
SECISBP2	79048	broad.mit.edu	37	chr9	91973672	91973672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acatctggaagcatacagtgGatgtaccctggagctagaag	13	8	12	8	0	1	1	0	0	1	1	1	4	1	4	1	3	4	3	1	3	5	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:91973672G>C	ENST00000375807.3	+	17	2569	c.2498G>C	c.(2497-2499)gGa>gCa	p.G833A	SECISBP2_ENST00000534113.2_Missense_Mutation_p.G765A|SECISBP2_ENST00000339901.4_Missense_Mutation_p.G760A	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	833					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCATACAGTGGATGTACCCTG	0.393													44	40					0	0	0	0	C	91973672	G	C	91973672	3	2	491	1	0	0	0	0	1	0	0	0	14093	1174	41	2	2564	2	SECISBP2	9	91973672	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		91973672	49239759	74	94978											
DAB2IP	153090	broad.mit.edu	37	chr9	124329482	124329482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgccatggagcccgactcCcttctggaccaagacgactc	9	6	9	17	3	1	1	0	0	1	1	3	5	2	3	4	2	1	0	4	2	1	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:124329482C>T	ENST00000259371.2	+	1	84	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_032552.2	NP_115941.2	Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	0					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCCCGACTCCCTTCTGGACC	0.567													22	122					0	0	0	0	T	124329482	C	T	124329482	2	4	491	1	0	0	0	0	0	0	0	1	4252	610	22	4		4	DAB2IP	9	124329482	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	32355810	124329482	16883949	75	94979											
SURF4	6836	broad.mit.edu	37	chr9	136230344	136230344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgacggccacgggtcttagCcaggcaggtagggatctgtg	7	9	16	9	2	2	1	0	1	2	0	2	2	2	2	2	5	1	2	2	5	2	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:136230344C>T	ENST00000485435.2	-	6	605	c.476G>A	c.(475-477)gGc>gAc	p.G159D	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000371989.3_3'UTR			O15260	SURF4_HUMAN	surfeit 4	0						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGGGTCTTAGCCAGGCAGGTA	0.567													9	26					0	0	0	0	T	136230344	C	T	136230344	3	4	491	1	0	0	0	0	1	0	0	0	15495	754	26	4		4	SURF4	9	136230344	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	11900862	136230344	4983087	76	94980											
CUBN	8029	broad.mit.edu	37	chr10	16982080	16982080	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgccagaaccatctgaGataaatctgacccacagggt	12	7	9	13	1	2	3	0	2	2	2	2	4	2	3	4	1	2	1	4	1	3	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:16982080G>T	ENST00000377833.4	-	37	5564	c.5499C>A	c.(5497-5499)atC>atA	p.I1833I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1833	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCATCTGAGATAAATCTGA	0.448													22	277					3.83957e-06	3.97508e-06	1	0	T	16982080	G	T	16982080	2	4	491	1	0	0	0	0	0	0	0	1	4083	932	33	2		2	CUBN	10	16982080	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		16982080	118552667	77	94981											
NRP1	8829	broad.mit.edu	37	chr10	33491727	33491727	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcagctctctgccatgCggagttacaagcacacacac	10	7	10	14	1	1	0	0	0	1	0	2	1	1	1	1	2	5	4	1	2	2	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:33491727C>A	ENST00000374823.5	-	11	1955	c.1956G>T	c.(1954-1956)ccG>ccT	p.P652P	NRP1_ENST00000395995.1_Intron|NRP1_ENST00000265371.4_Intron|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374867.2_Intron			O14786	NRP1_HUMAN	neuropilin 1	0	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTCTGCCATGCGGAGTTACAA	0.478													6	39					0.00116845	0.00118188	1	0	A	33491727	C	A	33491727	2	1	491	1	0	0	0	0	0	0	0	1	10731	783	27	3		3	NRP1	10	33491727	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	16509647	33491727	102043020	78	94982											
ZNF32	7580	broad.mit.edu	37	chr10	44140203	44140203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcccagcttgaggatccTgtagcctcagagtggtcata	10	11	10	10	0	2	2	2	1	0	1	4	3	4	3	3	2	2	2	3	2	3	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:44140203T>C	ENST00000395797.1	-	3	305	c.117A>G	c.(115-117)acA>acG	p.T39T	ZNF32_ENST00000374433.2_Silent_p.T39T|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTGAGGATCCTGTAGCCTCAG	0.423													39	111					0	0	0	0	C	44140203	T	C	44140203	2	2	491	1	0	0	0	0	0	0	0	1	17933	1567	55	5		5	ZNF32	10	44140203	Silent	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	10648476	44140203	91394544	79	94983											
SAR1A	56681	broad.mit.edu	37	chr10	71913669	71913669	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgcatctgttctgtcaatTttgttacccaagataaggat	11	16	7	7	0	3	1	1	0	2	1	3	2	3	2	1	1	2	3	1	1	4	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:71913669T>G	ENST00000373238.1	-	6	762	c.405A>C	c.(403-405)aaA>aaC	p.K135N	SAR1A_ENST00000458634.2_Missense_Mutation_p.K92N|SAR1A_ENST00000431664.2_Missense_Mutation_p.K135N|SAR1A_ENST00000373241.4_Missense_Mutation_p.K135N|SAR1A_ENST00000373242.1_Missense_Mutation_p.K135N			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	135					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTCTGTCAATTTTGTTACCCA	0.323													42	316					0	0	0	0	G	71913669	T	G	71913669	3	3	491	1	0	0	0	0	1	0	0	0	13925	1838	64	5	199	5	SAR1A	10	71913669	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	27773466	71913669	63621078	80	94984											
VTI1A	143187	broad.mit.edu	37	chr10	114298011	114298011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttttcagagggcaCatctgctcgataacacagag	10	14	8	9	1	3	2	1	0	2	2	4	3	3	2	0	1	2	2	0	1	1	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:114298011C>T	ENST00000393077.2	+	5	465	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	VTI1A_ENST00000432306.1_Missense_Mutation_p.H117Y	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	117					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TCAGAGGGCACATCTGCTCGA	0.428			T	TCF7L2	colorectal								36	59					0	0	0	0	T	114298011	C	T	114298011	3	4	491	1	0	0	0	0	1	0	0	0	17331	478	17	4	367	4	VTI1A	10	114298011	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	42384342	114298011	21236736	81	94985											
TDRD1	56165	broad.mit.edu	37	chr10	115970473	115970473	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccacattcaaacaccAgaagacttcttttgtcaaca	13	11	5	12	0	3	2	2	0	1	2	3	2	3	2	2	0	3	1	2	0	3	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:115970473A>G	ENST00000251864.2	+	12	1671	c.1518A>G	c.(1516-1518)ccA>ccG	p.P506P	TDRD1_ENST00000369281.2_Silent_p.P506P|TDRD1_ENST00000369280.1_Silent_p.P506P|TDRD1_ENST00000422662.1_Silent_p.P167P|TDRD1_ENST00000369282.1_Silent_p.P506P	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	506					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTCAAACACCAGAAGACTTCT	0.378													51	62					0	0	0	0	G	115970473	A	G	115970473	2	3	491	1	0	0	0	0	0	0	0	1	15824	175	7	5		5	TDRD1	10	115970473	Silent	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	1672462	115970473	19564274	82	94986											
OR56B1	387748	broad.mit.edu	37	chr11	5758360	5758360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacaggaggccaaacaGcatttgccagttggttctgg	10	10	13	8	0	1	2	0	2	1	0	1	3	1	3	2	4	3	3	2	4	1	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:5758360G>C	ENST00000317121.3	+	1	680	c.614G>C	c.(613-615)aGc>aCc	p.S205T	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AGGCCAAACAGCATTTGCCAG	0.448													25	45					0	0	0	0	C	5758360	G	C	5758360	3	2	491	1	0	0	0	0	1	0	0	0	11208	971	34	4	616	4	OR56B1	11	5758360	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		5758360	129248156	83	94987											
FNBP4	23360	broad.mit.edu	37	chr11	47754119	47754119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaccagcctttaggaGtggcgtttatttcatactgt	8	13	12	8	1	1	0	1	0	0	0	1	2	1	2	2	4	2	2	2	4	3	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:47754119G>A	ENST00000263773.5	-	11	1802	c.1790C>T	c.(1789-1791)aCt>aTt	p.T597I	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	597	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCCTTTAGGAGTGGCGTTTAT	0.468													81	54					0	0	0	0	A	47754119	G	A	47754119	3	1	491	1	0	0	0	0	1	0	0	0	6012	1029	36	4	1291	4	FNBP4	11	47754119	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	41995759	47754119	87252397	84	94988											
RBM4	5936	broad.mit.edu	37	chr11	66407505	66407505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccggtcatcgaatgtgAcatcgtgaaagattatgcct	10	12	11	8	3	1	3	1	2	0	1	4	4	2	3	2	2	1	0	2	2	3	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:66407505A>G	ENST00000409406.1	+	1	1100	c.323A>G	c.(322-324)gAc>gGc	p.D108G	RBM4_ENST00000310092.7_Missense_Mutation_p.D108G|RBM4_ENST00000578778.1_Missense_Mutation_p.D108G|RBM4_ENST00000506523.2_Missense_Mutation_p.D108G|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.D108G|RBM4_ENST00000408993.2_Missense_Mutation_p.D108G|RBM4_ENST00000503028.2_Missense_Mutation_p.D108G|RBM4_ENST00000483858.1_Missense_Mutation_p.D108G|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.D108G|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000398692.4_Missense_Mutation_p.D108G|RBM4_ENST00000396053.4_Missense_Mutation_p.D108G					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		ATCGAATGTGACATCGTGAAA	0.507													5	265					0	0	0	0	G	66407505	A	G	66407505	3	3	491	1	0	0	0	0	1	0	0	0	13216	275	10	5	325	5	RBM4	11	66407505	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	18653386	66407505	68599011	85	94989											
DGAT2	84649	broad.mit.edu	37	chr11	75509403	75509403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcgccccatgcatctTccatggtcgaggcctcttct	4	14	9	14	2	3	0	0	0	3	0	6	1	4	0	4	3	1	2	4	3	0	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:75509403T>C	ENST00000228027.7	+	7	1201	c.941T>C	c.(940-942)tTc>tCc	p.F314S	DGAT2_ENST00000376262.3_Missense_Mutation_p.F271S	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	314					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCATGCATCTTCCATGGTCGA	0.572													50	87					0	0	0	0	C	75509403	T	C	75509403	3	2	491	1	0	0	0	0	1	0	0	0	4495	1783	62	5	967	5	DGAT2	11	75509403	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	9101898	75509403	59497113	86	94990											
CAPN5	726	broad.mit.edu	37	chr11	76834877	76834877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgccaggcactgtggcCgtgcacattctcagcagcac	9	7	10	15	1	1	0	1	0	1	0	2	0	1	0	3	2	5	4	3	2	1	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:76834877C>T	ENST00000278559.3	+	13	2073	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000456580.2_Silent_p.A668A|CAPN5_ENST00000529629.1_Silent_p.A628A	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	628					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCACTGTGGCCGTGCACATTC	0.637													35	47					0	0	0	0	T	76834877	C	T	76834877	2	4	491	1	0	0	0	0	0	0	0	1	2654	639	23	1		1	CAPN5	11	76834877	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	1325474	76834877	58171639	87	94991											
ITPR2	3709	broad.mit.edu	37	chr12	26551955	26551955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagaaggtcataaaccactCgggcagcaaacaagggctcc	16	4	10	11	1	1	1	1	0	0	1	3	1	2	1	2	3	3	3	2	3	6	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:26551955C>T	ENST00000381340.3	-	54	7966	c.7550G>A	c.(7549-7551)cGa>cAa	p.R2517Q	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2517					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATAAACCACTCGGGCAGCAAA	0.333													16	53					0	0	0	0	T	26551955	C	T	26551955	3	4	491	1	0	0	0	0	1	0	0	0	7974	884	31	1	571	1	ITPR2	12	26551955	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08		26551955	107299940	88	94992											
GALNT6	11226	broad.mit.edu	37	chr12	51758105	51758105	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctcagcgattcgagcCaggaggggctccagccagcc	7	7	13	14	2	1	0	1	0	0	0	4	3	3	1	5	3	4	1	5	3	0	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:51758105C>A	ENST00000543196.2	-	5	1054	c.849G>T	c.(847-849)ctG>ctT	p.L283L	GALNT6_ENST00000356317.3_Silent_p.L283L			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	283	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGATTCGAGCCAGGAGGGGCT	0.622													26	17					2.48779e-11	2.66983e-11	1	0	A	51758105	C	A	51758105	2	1	491	1	0	0	0	0	0	0	0	1	6266	581	21	4		4	GALNT6	12	51758105	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	25206150	51758105	82093790	89	94993											
KRT80	144501	broad.mit.edu	37	chr12	52567385	52567386	+	Splice_Site	INS	-	-	G																															ctgtgtggtcagccccacctINSggctccgagagtatgcctcg																										TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:52567385_52567386insG	ENST00000313234.5	-	5	926_927	c.831_splice	c.e5+1	p.A277_splice	KRT80_ENST00000394815.2_Splice_Site_p.A277_splice	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	277	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CAGCCCCACCTGGCTCCGAGAG	0.649													48	57	---	---	---	---					G	52567386	-	G	52567385	8	5	491	1	0	1	1	0	0	0	1	0	8546	1594	55	0	583	0	KRT80	12	52567385	Splice_Site	INS	-	TCGA-UF-A719-01A-12D-A34J-08	809280	52567385	81284510	90	94994											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518291	85518291	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatattgagcctagtgAaaaaatgtaagatatataaa	21	10	6	4	0	0	3	0	2	0	1	0	3	0	3	2	0	1	1	2	0	12	7			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:85518291A>C	ENST00000393217.2	+	17	4062	c.4001A>C	c.(4000-4002)gAa>gCa	p.E1334A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAGCCTAGTGAAAAAATGTAA	0.328													16	146					0	0	0	0	C	85518291	A	C	85518291	3	2	491	1	0	0	0	0	1	0	0	0	9093	246	9	5	4063	5	LRRIQ1	12	85518291	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	32950906	85518291	48333604	91	94995											
NTN4	59277	broad.mit.edu	37	chr12	96077300	96077300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcagtctccggtgataggGtcacagctccccgcacagtc	8	8	11	14	2	2	1	1	1	1	0	5	1	3	1	3	2	2	3	3	2	1	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:96077300G>T	ENST00000343702.4	-	6	1816	c.1368C>A	c.(1366-1368)gaC>gaA	p.D456E	NTN4_ENST00000538383.1_Missense_Mutation_p.D419E|NTN4_ENST00000553059.1_Missense_Mutation_p.D456E|NTN4_ENST00000344911.4_Missense_Mutation_p.D419E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	456					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGGTGATAGGGTCACAGCTCC	0.537													5	38					0.000602214	0.000612657	1	0	T	96077300	G	T	96077300	3	4	491	1	0	0	0	0	1	0	0	0	10773	1252	44	4	538	4	NTN4	12	96077300	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	10559009	96077300	37774595	92	94996											
PITPNM2	57605	broad.mit.edu	37	chr12	123489929	123489929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagacggcttcgtgcttgacGagctcagtggcctcctcacc	6	9	12	14	3	2	2	2	1	0	1	4	4	3	2	3	2	2	3	3	2	0	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:123489929G>A	ENST00000280562.5	-	6	1015	c.810C>T	c.(808-810)ctC>ctT	p.L270L	PITPNM2_ENST00000546049.1_Silent_p.L270L|PITPNM2_ENST00000542749.1_Silent_p.L270L|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Silent_p.L270L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	270					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGTGCTTGACGAGCTCAGTGG	0.617													22	62					0	0	0	0	A	123489929	G	A	123489929	2	1	491	1	0	0	0	0	0	0	0	1	12023	1045	37	1		1	PITPNM2	12	123489929	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	27412629	123489929	10361966	93	94997											
ALG5	29880	broad.mit.edu	37	chr13	37569653	37569653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttctttctggcctttGgcatttaagaagaatttctc	10	17	7	7	0	3	2	0	0	3	2	4	2	3	2	1	2	0	2	1	2	4	6			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:37569653G>T	ENST00000239891.3	-	2	213	c.147C>A	c.(145-147)gcC>gcA	p.A49A	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Silent_p.A49A|ALG5_ENST00000413537.2_Silent_p.A49A	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	49					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TCTGGCCTTTGGCATTTAAGA	0.403													24	71					1.66031e-10	1.76032e-10	1	0	T	37569653	G	T	37569653	2	4	491	1	0	0	0	0	0	0	0	1	521	1335	47	4		4	ALG5	13	37569653	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		37569653	77600225	94	94998											
KLF5	688	broad.mit.edu	37	chr13	73636162	73636162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaacgtcttcctccctgAcatcactcacctgagaactg	10	10	6	15	1	3	3	2	3	1	1	5	4	5	3	3	0	2	0	3	0	2	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:73636162A>G	ENST00000377687.4	+	2	961	c.425A>G	c.(424-426)gAc>gGc	p.D142G	KLF5_ENST00000539231.1_Missense_Mutation_p.D51G|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	142					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TTCCTCCCTGACATCACTCAC	0.473													49	340					0	0	0	0	G	73636162	A	G	73636162	3	3	491	1	0	0	0	0	1	0	0	0	8401	275	10	5	431	5	KLF5	13	73636162	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	36066509	73636162	41533716	95	94999											
SLITRK5	26050	broad.mit.edu	37	chr13	88328033	88328033	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttccatgggctacggggTttgaggagattgcatctaaa	9	12	13	7	1	1	2	0	1	1	1	2	3	2	2	1	4	2	4	1	4	3	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:88328033T>C	ENST00000325089.6	+	2	609	c.390T>C	c.(388-390)ggT>ggC	p.G130G	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	130						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGCTACGGGGTTTGAGGAGAT	0.448													42	166					0	0	0	0	C	88328033	T	C	88328033	2	2	491	1	0	0	0	0	0	0	0	1	14834	1712	60	5		5	SLITRK5	13	88328033	Silent	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	14691871	88328033	26841845	96	95000											
ABCC4	10257	broad.mit.edu	37	chr13	95858863	95858863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagagggtaaccgtcagccGcacagccccatacagcgtca	12	4	11	14	3	2	1	2	0	0	1	2	2	2	1	4	1	5	2	4	1	3	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:95858863G>A	ENST00000376887.4	-	8	1198	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	ABCC4_ENST00000412704.1_Missense_Mutation_p.R362W|ABCC4_ENST00000431522.1_Missense_Mutation_p.R362W|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R287W	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	362	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACCGTCAGCCGCACAGCCCCA	0.547													4	125					0	0	0	0	A	95858863	G	A	95858863	3	1	491	1	0	0	0	0	1	0	0	0	55	1086	38	1	3038	1	ABCC4	13	95858863	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	7530830	95858863	19311015	97	95001											
OR4M1	441670	broad.mit.edu	37	chr14	20248621	20248621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaatatccttatcatttGcaccatcaggctagaccctc	12	11	6	12	0	2	1	2	0	0	1	4	2	3	2	3	2	1	2	3	2	4	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:20248621G>T	ENST00000315957.4	+	1	221	c.140G>T	c.(139-141)tGc>tTc	p.C47F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTATCATTTGCACCATCAGG	0.433													59	195					4.09106e-26	4.61556e-26	1	0	T	20248621	G	T	20248621	3	4	491	1	0	0	0	0	1	0	0	0	11146	1319	46	4	142	4	OR4M1	14	20248621	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		20248621	87100919	98	95002											
NEDD8	4738	broad.mit.edu	37	chr14	24687636	24687636	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctcctttccggtcagcGtctgaaacaggcaatggttt	9	12	9	11	2	3	1	1	1	2	0	5	1	4	1	2	3	2	2	2	3	3	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:24687636G>A	ENST00000250495.5	-	2	206	c.18_splice	c.e2-1	p.T7_splice	NEDD8-MDP1_ENST00000534348.1_Splice_Site_p.T7_splice|NEDD8_ENST00000524927.1_Splice_Site_p.T7_splice|NEDD8-MDP1_ENST00000604306.1_5'UTR	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TCCGGTCAGCGTCTGAAACAG	0.428													8	43					0	0	0	0	A	24687636	G	A	24687636	5	1	491	1	0	0	0	0	0	0	1	0	10382	1159	40	1	237	1	NEDD8	14	24687636	Splice_Site	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	4439015	24687636	82661904	99	95003											
MLH3	27030	broad.mit.edu	37	chr14	75485569	75485569	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtctatgtcagctaacGgcagcatagaaggtctcccg	10	9	12	10	2	3	1	1	0	2	1	4	1	3	1	1	3	3	3	1	3	4	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:75485569G>C	ENST00000355774.2	-	12	4420	c.4205C>G	c.(4204-4206)cCg>cGg	p.P1402R	MLH3_ENST00000556257.1_Missense_Mutation_p.P1224R|MLH3_ENST00000380968.2_Missense_Mutation_p.P340R|MLH3_ENST00000238662.7_Missense_Mutation_p.P1378R|MLH3_ENST00000556740.1_Missense_Mutation_p.P1402R	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1402					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.P1378R(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCAGCTAACGGCAGCATAGA	0.468								Mismatch excision repair (MMR)					17	120					0	0	0	0	C	75485569	G	C	75485569	3	2	491	1	0	0	0	0	1	0	0	0	9687	1116	39	3	164	3	MLH3	14	75485569	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	50797933	75485569	31863971	100	95004											
GOLGA5	9950	broad.mit.edu	37	chr14	93263802	93263802	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtcttggtttgttgatcTtgctggaaaggcagaagatc	9	14	12	6	0	2	3	0	1	2	2	3	4	2	4	0	3	1	4	0	3	2	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:93263802T>C	ENST00000163416.2	+	2	276	c.20T>C	c.(19-21)cTt>cCt	p.L7P	GOLGA5_ENST00000355976.2_Missense_Mutation_p.L7P	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	7					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTTGTTGATCTTGCTGGAAAG	0.408			T	RET	papillary thyroid								21	117					0	0	0	0	C	93263802	T	C	93263802	3	2	491	1	0	0	0	0	1	0	0	0	6607	1609	56	5	22	5	GOLGA5	14	93263802	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	17778233	93263802	14085738	101	95005											
SERPINA12	145264	broad.mit.edu	37	chr14	94956065	94956065	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttcaggtcgaaggtGcccgtcatgtggagtctggg	5	12	15	9	2	5	0	2	0	3	0	6	2	5	1	1	4	1	0	1	4	1	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:94956065G>T	ENST00000341228.2	-	5	1740	c.945C>A	c.(943-945)ggC>ggA	p.G315G	SERPINA12_ENST00000556881.1_Silent_p.G315G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	315					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGTCGAAGGTGCCCGTCATGT	0.532													28	67					3.57733e-08	3.77012e-08	1	0	T	94956065	G	T	94956065	2	4	491	1	0	0	0	0	0	0	0	1	14176	1306	46	4		4	SERPINA12	14	94956065	Silent	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	1692263	94956065	12393475	102	95006											
TMCO5A	145942	broad.mit.edu	37	chr15	38243375	38243375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggagcaccttgtggaaGctcagatgcttcttctttcc	7	12	11	11	0	3	1	1	0	2	1	4	3	4	3	2	3	3	4	2	3	1	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:38243375G>T	ENST00000319669.4	+	11	909	c.807G>T	c.(805-807)aaG>aaT	p.K269N	TMCO5A_ENST00000559502.1_Intron|TMCO5A_ENST00000540944.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	269						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CCTTGTGGAAGCTCAGATGCT	0.453													25	82					1.03073e-24	1.15547e-24	1	0	T	38243375	G	T	38243375	3	4	491	1	0	0	0	0	1	0	0	0	16093	962	34	4	845	4	TMCO5A	15	38243375	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		38243375	64288017	103	95007											
SPTBN5	51332	broad.mit.edu	37	chr15	42149883	42149883	+	Frame_Shift_Del	DEL	C	C	-																															tggcctccgaggctgggtggCccccctgcagcagcctctgt																										TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:42149883delC	ENST00000320955.6	-	50	8479	c.8252delG	c.(8251-8253)gcfs	p.G2751fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2751					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCTGGGTGGCCCCCCTGCAG	0.612													9	12	---	---	---	---					-	42149883	C	-	42149883	7	5	491	1	0	1	0	1	0	0	0	0	15212	739	26	0	2848	0	SPTBN5	15	42149883	Frame_Shift_Del	DEL	C	TCGA-UF-A719-01A-12D-A34J-08	3906508	42149883	60381509	104	95008											
PYGO1	26108	broad.mit.edu	37	chr15	55838490	55838490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagacgaatggccatgacGgtttgggtgaagagaggatt	13	8	16	4	2	0	5	0	2	0	3	0	8	0	6	1	4	0	1	1	4	3	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:55838490G>A	ENST00000302000.6	-	3	1085	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	PYGO1_ENST00000563719.1_Missense_Mutation_p.R331C	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	331					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGCCATGACGGTTTGGGTGA	0.478													69	192					0	0	0	0	A	55838490	G	A	55838490	3	1	491	1	0	0	0	0	1	0	0	0	12945	1116	39	1	272	1	PYGO1	15	55838490	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	13688607	55838490	46692902	105	95009											
RNF111	54778	broad.mit.edu	37	chr15	59323022	59323022	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttccttaaagtttcccAtgtctcaatggactcctgaa	9	14	7	11	0	1	1	1	1	1	0	5	2	4	2	3	2	0	2	3	2	4	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:59323022A>G	ENST00000348370.4	+	2	434	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RNF111_ENST00000434298.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000561186.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000559209.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000557998.1_Start_Codon_SNP_p.M1V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	1					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAAGTTTCCCATGTCTCAATG	0.338													21	65					0	0	0	0	G	59323022	A	G	59323022	1	3	491	1	0	0	0	0	0	0	0	0	13510	217	8	5		5	RNF111	15	59323022	Translation_Start_Site	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	3484532	59323022	43208370	106	95010											
TPM1	7168	broad.mit.edu	37	chr15	63351860	63351860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagcacattgctgaagatgCcgaccgcaaatatgaagagg	15	6	11	9	2	0	4	0	2	0	2	0	5	0	4	2	1	3	3	2	1	5	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:63351860C>T	ENST00000357980.4	+	5	678	c.599C>T	c.(598-600)gCc>gTc	p.A200V	TPM1_ENST00000288398.6_Missense_Mutation_p.A158V|TPM1_ENST00000560959.1_Missense_Mutation_p.A122V|TPM1_ENST00000317516.7_Missense_Mutation_p.A122V|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559397.1_Missense_Mutation_p.A158V|TPM1_ENST00000267996.7_Missense_Mutation_p.A158V|TPM1_ENST00000403994.3_Missense_Mutation_p.A158V|TPM1_ENST00000334895.5_Missense_Mutation_p.A122V|TPM1_ENST00000404484.4_Missense_Mutation_p.A122V|TPM1_ENST00000358278.3_Missense_Mutation_p.A158V|TPM1_ENST00000559556.1_Missense_Mutation_p.A158V|TPM1_ENST00000559281.1_Missense_Mutation_p.A122V			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	158					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GCTGAAGATGCCGACCGCAAA	0.488													4	78					0	0	0	0	T	63351860	C	T	63351860	3	4	491	1	0	0	0	0	1	0	0	0	16500	739	26	4	753	4	TPM1	15	63351860	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	4028838	63351860	39179532	107	95011											
PML	5371	broad.mit.edu	37	chr15	74327753	74327753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaggagcgccctgccGtccaccgtgggatccgctac	7	6	11	17	4	1	0	1	0	0	0	3	2	3	2	6	2	3	1	6	2	1	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:74327753G>A	ENST00000268059.6	+	8	2047	c.1951G>A	c.(1951-1953)Gtc>Atc	p.V651I	PML_ENST00000564428.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.V603I|PML_ENST00000359928.4_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	48					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCCCTGCCGTCCACCGTGG	0.667			T	"RARA, PAX5"	"APL, ALL"								13	90					0	0	0	0	A	74327753	G	A	74327753	3	1	491	1	0	0	0	0	1	0	0	0	12207	1145	40	1	2115	1	PML	15	74327753	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	10975893	74327753	28203639	108	95012											
CACNA1H	8912	broad.mit.edu	37	chr16	1248620	1248620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcccacaggcatgCggatcctggtcactctgctg	5	9	11	16	1	2	0	1	0	1	0	3	1	3	1	3	3	4	3	3	3	0	0			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:1248620C>T	ENST00000348261.5	+	6	897	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R217W|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R217W	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	217					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CACAGGCATGCGGatcctggt	0.637													5	109					0	0	0	0	T	1248620	C	T	1248620	3	4	491	1	0	0	0	0	1	0	0	0	2570	759	27	1	667	1	CACNA1H	16	1248620	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08		1248620	89106133	109	95013											
GRIN2A	2903	broad.mit.edu	37	chr16	9857217	9857217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatagctgtcattcaccGcctgggatggcaacgagtgt	10	9	13	9	2	2	1	2	0	0	1	2	4	2	2	2	2	2	2	2	2	3	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:9857217G>A	ENST00000396573.2	-	14	4493	c.4184C>T	c.(4183-4185)gCg>gTg	p.A1395V	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1281W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R1124W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1281W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1395V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1395V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1395					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCATTCACCGCCTGGGATGG	0.537													45	49					0	0	0	0	A	9857217	G	A	9857217	3	1	491	1	0	0	0	0	1	0	0	0	6829	1087	38	1	214	1	GRIN2A	16	9857217	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	8608597	9857217	80497536	110	95014											
KIAA0556	23247	broad.mit.edu	37	chr16	27751362	27751362	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttaaatcttatggtttcagGatcttgacattggtgccaag	10	15	10	6	0	3	1	1	1	2	0	3	2	3	2	1	3	1	2	1	3	4	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:27751362G>A	ENST00000261588.4	+	15	1763	c.1743_splice	c.e15-1	p.D582_splice		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	582										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATGGTTTCAGGATCTTGACAT	0.393													66	73					0	0	0	0	A	27751362	G	A	27751362	5	1	491	1	0	0	0	0	0	0	1	0	8234	1188	41	2	1802	2	KIAA0556	16	27751362	Splice_Site	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	17894145	27751362	62603391	111	95015											
KIAA0556	23247	broad.mit.edu	37	chr16	27777777	27777777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactacaataaatctccCgaggacacctatcgcggggt	12	8	10	11	3	1	0	0	0	1	0	3	3	1	2	2	4	2	0	2	4	6	3	rs138259068	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:27777777C>T	ENST00000261588.4	+	20	3976	c.3957C>T	c.(3955-3957)ccC>ccT	p.P1319P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1319										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATAAATCTCCCGAGGACACCT	0.612													36	35					0	0	0	0	T	27777777	C	T	27777777	2	4	491	1	0	0	0	0	0	0	0	1	8234	639	23	1		1	KIAA0556	16	27777777	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	26415	27777777	62576976	112	95016											
CDH8	1006	broad.mit.edu	37	chr16	61858997	61858997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacaggccaccagagtGtccacccatatctttggctt	9	9	8	15	0	1	2	0	0	1	2	2	2	2	2	5	2	0	1	5	2	1	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:61858997G>A	ENST00000577390.1	-	5	1708	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	CDH8_ENST00000299345.6_Missense_Mutation_p.H252Y|CDH8_ENST00000584337.1_Missense_Mutation_p.H252Y|CDH8_ENST00000577730.1_Missense_Mutation_p.H252Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	252	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H252Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCACCAGAGTGTCCACCCATA	0.453													4	83					0	0	0	0	A	61858997	G	A	61858997	3	1	491	1	0	0	0	0	1	0	0	0	3145	1377	48	4	1677	4	CDH8	16	61858997	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	34081220	61858997	28495756	113	95017											
DPEP3	64180	broad.mit.edu	37	chr16	68014253	68014253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagataccgccggctgagcgCgcgggaaccctcgcggcccg	6	3	15	17	8	0	2	0	1	0	1	1	3	0	3	4	3	3	1	4	3	2	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:68014253C>T	ENST00000268793.4	-	1	479	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	11					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CGGCTGAGCGCGCGGGAACCC	0.751													4	2					0	0	0	0	T	68014253	C	T	68014253	3	4	491	1	0	0	0	0	1	0	0	0	4751	768	27	1	1475	1	DPEP3	16	68014253	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	6155256	68014253	22340500	114	95018											
AP1G1	164	broad.mit.edu	37	chr16	71784159	71784159	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtacaggcgctggacagtaTaggcatgcatctccacacta	11	9	10	11	1	1	0	0	0	1	0	2	1	1	1	1	3	2	5	1	3	4	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:71784159T>C	ENST00000299980.4	-	14	1802	c.1361A>G	c.(1360-1362)tAt>tGt	p.Y454C	AP1G1_ENST00000393512.3_Missense_Mutation_p.Y457C|AP1G1_ENST00000423132.2_Missense_Mutation_p.Y457C|AP1G1_ENST00000433195.2_Missense_Mutation_p.Y477C|AP1G1_ENST00000569748.1_Missense_Mutation_p.Y454C	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	454					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTGGACAGTATAGGCATGCAT	0.378													11	248					0	0	0	0	C	71784159	T	C	71784159	3	2	491	1	0	0	0	0	1	0	0	0	733	1406	49	5	1147	5	AP1G1	16	71784159	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	3769906	71784159	18570594	115	95019											
KIAA0753	9851	broad.mit.edu	37	chr17	6538401	6538401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctagatgaacacaggttGaagctggctggcctggtccc	8	9	14	10	0	0	3	0	2	0	1	1	3	1	3	2	4	3	4	2	4	3	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:6538401G>A	ENST00000361413.3	-	2	381	c.23C>T	c.(22-24)tCa>tTa	p.S8L	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	8						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AACACAGGTTGAAGCTGGCTG	0.463													53	102					0	0	0	0	A	6538401	G	A	6538401	3	1	491	1	0	0	0	0	1	0	0	0	8242	1294	45	2	2952	2	KIAA0753	17	6538401	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		6538401	74656809	116	95020											
EIF4A1	1973	broad.mit.edu	37	chr17	7479955	7479955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagatggaagctccccaCatcatcgtgggtacccctgg	8	8	11	14	1	1	1	1	0	0	1	3	2	2	2	4	3	3	3	4	3	2	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7479955C>T	ENST00000293831.8	+	5	475	c.459C>T	c.(457-459)caC>caT	p.H153H	EIF4A1_ENST00000582746.1_Silent_p.H153H|EIF4A1_ENST00000577269.1_Silent_p.H153H|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	153	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AAGCTCCCCACATCATCGTGG	0.552													12	130					0	0	0	0	T	7479955	C	T	7479955	2	4	491	1	0	0	0	0	0	0	0	1	5062	477	17	4		4	EIF4A1	17	7479955	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	941554	7479955	73715255	117	95021											
TP53	7157	broad.mit.edu	37	chr17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatttccttccactcggaTaagatgctgaggaggggcca	11	9	11	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	1	3	4	2	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7578266T>A	ENST00000420246.2	-	6	715	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000269305.4_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)		TCCACTCGGATAAGATGCTGA	0.557		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)			35	65					0	0	0	0	A	7578266	T	A	7578266	3	1	491	1	0	0	0	0	1	0	0	0	16476	1406	49	5	711	5	TP53	17	7578266	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	98311	7578266	73616944	118	95022											
CHD3	1107	broad.mit.edu	37	chr17	7814165	7814165	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcttcctctctgttccagGcctacccgccgggtccctac	3	11	8	19	2	1	0	0	0	1	0	5	0	4	0	6	2	3	2	6	2	2	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7814165G>A	ENST00000380358.4	+	39	5933	c.5931_splice	c.e39-1	p.A1978_splice	CHD3_ENST00000358181.4_Splice_Site_p.A1885_splice|CHD3_ENST00000330494.7_Splice_Site_p.A1919_splice	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1919					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGTTCCAGGCCTACCCGCC	0.602													24	373					0	0	0	0	A	7814165	G	A	7814165	5	1	491	1	0	0	0	0	0	0	1	0	3355	1217	42	4	6190	4	CHD3	17	7814165	Splice_Site	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	235899	7814165	73381045	119	95023											
DNAH9	1770	broad.mit.edu	37	chr17	11513834	11513834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cactcttacaaggggagaatCccacccctaaggtggagttg	11	8	11	11	0	1	1	0	0	1	1	2	3	2	2	3	4	1	1	3	4	4	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:11513834C>G	ENST00000262442.3	+	3	804	c.736C>G	c.(736-738)Ccc>Gcc	p.P246A	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.P246A|DNAH9_ENST00000579828.1_Missense_Mutation_p.P246A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	246	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGGGAGAATCCCACCCCTAA	0.498													27	58					0	0	0	0	G	11513834	C	G	11513834	3	3	491	1	0	0	0	0	1	0	0	0	4644	855	30	2	746	2	DNAH9	17	11513834	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	3699669	11513834	69681376	120	95024											
GAS2L2	246176	broad.mit.edu	37	chr17	34079505	34079505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggatgcccatctcctttCgacaccactggatgaagtta	9	12	8	12	1	1	1	0	1	1	0	3	4	1	3	3	2	1	1	3	2	2	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:34079505C>A	ENST00000254466.6	-	1	392	c.365G>T	c.(364-366)cGa>cTa	p.R122L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R122L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	122	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATCTCCTTTCGACACCACTG	0.572													23	153					1.66031e-10	1.76032e-10	1	0	A	34079505	C	A	34079505	3	1	491	1	0	0	0	0	1	0	0	0	6296	884	31	3	2301	3	GAS2L2	17	34079505	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	22565671	34079505	47115705	121	95025											
ZNHIT3	9326	broad.mit.edu	37	chr17	34848722	34848722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcttcctaccaaaaccGtaaagcctgtggaaaacaaa	16	7	6	12	1	1	0	0	0	1	0	2	1	2	1	4	1	5	2	4	1	8	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:34848722G>A	ENST00000225410.4	+	3	249	c.184G>A	c.(184-186)Gta>Ata	p.V62I	ZNHIT3_ENST00000592616.1_Missense_Mutation_p.V62I|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000490126.2_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	62					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		TACCAAAACCGTAAAGCCTGT	0.443													4	107					0	0	0	0	A	34848722	G	A	34848722	3	1	491	1	0	0	0	0	1	0	0	0	18301	1145	40	1	194	1	ZNHIT3	17	34848722	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	769217	34848722	46346488	122	95026											
NAGLU	4669	broad.mit.edu	37	chr17	40696000	40696000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcaacatcctggactatgCcaacaagcagctggcggggt	11	6	13	11	1	0	0	0	0	0	0	1	1	1	1	2	5	5	3	2	5	4	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:40696000C>T	ENST00000225927.2	+	6	2077	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	659						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTGGACTATGCCAACAAGCAG	0.622													3	24					0	0	0	0	T	40696000	C	T	40696000	3	4	491	1	0	0	0	0	1	0	0	0	10213	739	26	4	1998	4	NAGLU	17	40696000	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	5847278	40696000	40499210	123	95027											
UBTF	7343	broad.mit.edu	37	chr17	42286824	42286824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgctgccagcgactgcCgatctccaccatgcgctcct	6	8	10	17	4	1	0	0	0	1	0	3	3	2	0	5	0	5	2	5	0	0	0			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:42286824C>T	ENST00000302904.4	-	17	2293	c.1801G>A	c.(1801-1803)Ggc>Agc	p.G601S	UBTF_ENST00000529383.1_Missense_Mutation_p.G601S|UBTF_ENST00000527034.1_Missense_Mutation_p.G564S|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_Missense_Mutation_p.G601S|UBTF_ENST00000393606.3_Missense_Mutation_p.G564S|UBTF_ENST00000343638.5_Missense_Mutation_p.G564S|UBTF_ENST00000533177.1_Missense_Mutation_p.G564S|UBTF_ENST00000526094.1_Missense_Mutation_p.G564S			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	601					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGCGACTGCCGATCTCCACC	0.597													16	67					0	0	0	0	T	42286824	C	T	42286824	3	4	491	1	0	0	0	0	1	0	0	0	17005	652	23	1	513	1	UBTF	17	42286824	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	1590824	42286824	38908386	124	95028											
TOM1L1	10040	broad.mit.edu	37	chr17	52993200	52993200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcctgggtctgaaaacCatgaagacatagagcttctg	13	10	9	9	0	2	4	0	2	2	2	3	4	3	4	2	1	3	1	2	1	5	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:52993200C>T	ENST00000575882.1	+	7	1050	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	TOM1L1_ENST00000445275.2_Missense_Mutation_p.H233Y|TOM1L1_ENST00000570371.1_Missense_Mutation_p.H233Y|TOM1L1_ENST00000572405.1_Missense_Mutation_p.H198Y|TOM1L1_ENST00000575333.1_Missense_Mutation_p.H233Y|TOM1L1_ENST00000572158.1_Missense_Mutation_p.H226Y|TOM1L1_ENST00000540336.1_Missense_Mutation_p.H121Y|TOM1L1_ENST00000348161.4_Missense_Mutation_p.H156Y|TOM1L1_ENST00000536554.1_Missense_Mutation_p.H156Y	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	233	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCTGAAAACCATGAAGACAT	0.403													17	112					0	0	0	0	T	52993200	C	T	52993200	3	4	491	1	0	0	0	0	1	0	0	0	16446	594	21	4	723	4	TOM1L1	17	52993200	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	10706376	52993200	28202010	125	95029											
EPX	8288	broad.mit.edu	37	chr17	56271375	56271375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggctcgctggctgccCgccgagtatgaggatgggct	4	9	16	12	3	1	1	0	1	1	0	2	3	1	2	2	4	1	6	2	4	1	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:56271375C>T	ENST00000225371.5	+	5	626	c.516C>T	c.(514-516)ccC>ccT	p.P172P		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	172					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCTGGCTGCCCGCCGAGTATG	0.652													29	18					0	0	0	0	T	56271375	C	T	56271375	2	4	491	1	0	0	0	0	0	0	0	1	5238	639	23	1		1	EPX	17	56271375	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	3278175	56271375	24923835	126	95030											
RNF213	57674	broad.mit.edu	37	chr17	78317738	78317738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaatgggaaaatgtggcttCggaacccctgccatttgtat	11	12	10	8	1	0	0	0	0	0	0	1	2	0	2	3	3	2	2	3	3	6	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:78317738C>T	ENST00000582970.1	+	28	6408	c.6265C>T	c.(6265-6267)Cgg>Tgg	p.R2089W	RNF213_ENST00000336301.6_Missense_Mutation_p.R162W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2138W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			AATGTGGCTTCGGAACCCCTG	0.468													15	148					0	0	0	0	T	78317738	C	T	78317738	3	4	491	1	0	0	0	0	1	0	0	0	13562	875	31	1	6690	1	RNF213	17	78317738	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	22046363	78317738	2877472	127	95031											
CEP192	55125	broad.mit.edu	37	chr18	13095516	13095516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttagcgacttgggagcttCtgggaaacatggtggcaacg	9	11	14	7	2	1	0	0	0	1	0	1	3	1	2	0	4	4	2	0	4	3	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:13095516C>G	ENST00000506447.1	+	35	6349	c.6269C>G	c.(6268-6270)tCt>tGt	p.S2090C	CEP192_ENST00000325971.8_Missense_Mutation_p.S1494C|CEP192_ENST00000430049.2_Missense_Mutation_p.S1615C|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1685										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGGGAGCTTCTGGGAAACAT	0.433													27	335					0	0	0	0	G	13095516	C	G	13095516	3	3	491	1	0	0	0	0	1	0	0	0	3280	913	32	2	6403	2	CEP192	18	13095516	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08		13095516	64981732	128	95032											
ZNF521	25925	broad.mit.edu	37	chr18	22805927	22805927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgagatgagtttttaggTgagtctgaaagctgtctagg	9	14	14	4	1	2	4	0	3	2	1	3	5	2	4	0	2	1	2	0	2	3	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:22805927T>C	ENST00000361524.3	-	4	2103	c.1955A>G	c.(1954-1956)cAc>cGc	p.H652R	ZNF521_ENST00000538137.2_Missense_Mutation_p.H652R|ZNF521_ENST00000584787.1_Missense_Mutation_p.H432R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	652					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTTTTTAGGTGAGTCTGAAA	0.458			T	PAX5	ALL								28	191					0	0	0	0	C	22805927	T	C	22805927	3	2	491	1	0	0	0	0	1	0	0	0	18060	1696	59	5	2000	5	ZNF521	18	22805927	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	9710411	22805927	55271321	129	95033											
DSG1	1828	broad.mit.edu	37	chr18	28919899	28919899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtatattcttctgaacccgGaaacggagccaaagatttgt	13	11	9	8	2	2	2	0	1	2	1	2	4	2	4	2	2	3	1	2	2	5	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:28919899G>A	ENST00000257192.4	+	11	1810	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	533					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCTGAACCCGGAAACGGAGCC	0.408													13	117					0	0	0	0	A	28919899	G	A	28919899	3	1	491	1	0	0	0	0	1	0	0	0	4812	1174	41	2	1640	2	DSG1	18	28919899	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	6113972	28919899	49157349	130	95034											
PKN1	5585	broad.mit.edu	37	chr19	14580993	14580993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggatgggctatggggaccGgaccagcacattctgtggga	9	7	17	8	1	1	0	0	0	1	0	1	4	1	4	2	6	1	2	2	6	1	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:14580993G>A	ENST00000242783.6	+	19	2477	c.2312G>A	c.(2311-2313)cGg>cAg	p.R771Q	PKN1_ENST00000342216.4_Missense_Mutation_p.R777Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	771	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TATGGGGACCGGACCAGCACA	0.642													4	56					0	0	0	0	A	14580993	G	A	14580993	3	1	491	1	0	0	0	0	1	0	0	0	12051	1116	39	1	2429	1	PKN1	19	14580993	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		14580993	44547990	131	95035											
ZNF737	100129842	broad.mit.edu	37	chr19	20728276	20728276	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaattatcttatgtgcagTaaggtatgaaaaccggctaa	15	12	9	5	1	1	2	0	2	1	0	1	2	1	2	1	2	2	4	1	2	8	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:20728276T>A	ENST00000427401.4	-	4	827	c.733A>T	c.(733-735)Act>Tct	p.T245S		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	245					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTATGTGCAGTAAGGTATGAA	0.408													32	77					0	0	0	0	A	20728276	T	A	20728276	3	1	491	1	0	0	0	0	1	0	0	0	18220	1638	57	5	881	5	ZNF737	19	20728276	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08	6147283	20728276	38400707	132	95036											
ZNF675	171392	broad.mit.edu	37	chr19	23837404	23837404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacagccttttaactgaaAattatcatttccacattttt	12	19	2	8	0	1	1	1	1	0	0	2	1	2	1	2	0	3	0	2	0	5	8			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:23837404A>G	ENST00000359788.4	-	4	499	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	111					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTAACTGAAAATTATCATTT	0.348													14	240					0	0	0	0	G	23837404	A	G	23837404	3	3	491	1	0	0	0	0	1	0	0	0	18177	14	1	5	1379	5	ZNF675	19	23837404	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08	3109128	23837404	35291579	133	95037											
ZNF792	126375	broad.mit.edu	37	chr19	35449245	35449245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattcactgcactggtaaGgccgttcaccagtgtgaagt	10	10	10	11	1	2	1	2	1	0	0	2	1	2	1	2	2	1	3	2	2	2	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:35449245G>A	ENST00000404801.1	-	4	1900	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	ZNF792_ENST00000605484.1_Missense_Mutation_p.P438L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGGTAAGGCCGTTCACC	0.512													40	29					0	0	0	0	A	35449245	G	A	35449245	3	1	491	1	0	0	0	0	1	0	0	0	18257	1000	35	4	388	4	ZNF792	19	35449245	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	11611841	35449245	23679738	134	95038											
LSR	51599	broad.mit.edu	37	chr19	35757581	35757582	+	Splice_Site	DEL	GC	GC	-																															ctgacagccactctcccccaGctggtggccaaggctcctat																										TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:35757581_35757582delGC	ENST00000602122.1	+	6	1526_1527	c.1039_splice	c.e6-1	p.A347_splice	LSR_ENST00000361790.3_Splice_Site_p.A366_splice|LSR_ENST00000427250.1_Splice_Site_p.A210_splice|LSR_ENST00000360798.3_Splice_Site_p.A298_splice|LSR_ENST00000354900.3_Splice_Site_p.A347_splice|LSR_ENST00000347609.4_Intron			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	366					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTCTCCCCCAGCTGGTGGCCAA	0.629													7	5	---	---	---	---					-	35757582	GC	-	35757581	8	5	491	1	0	1	0	1	0	0	1	0	9128	985	34	0	1122	0	LSR	19	35757581	Splice_Site	DEL	GC	TCGA-UF-A719-01A-12D-A34J-08	308336	35757581	23371402	135	95039											
PHLDB3	653583	broad.mit.edu	37	chr19	43991227	43991227	+	Frame_Shift_Del	DEL	C	C	-																															tcctctctggctccccctctCcccccttttccggggcaggc																										TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:43991227delC	ENST00000292140.5	-	10	1558	c.1198delG	c.(1198-1200)agfs	p.E400fs		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	400										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCCCCCTCTCCCCCCTTTTC	0.572													2	4	---	---	---	---					-	43991227	C	-	43991227	7	5	491	1	0	1	0	1	0	0	0	0	11925	864	30	0	752	0	PHLDB3	19	43991227	Frame_Shift_Del	DEL	C	TCGA-UF-A719-01A-12D-A34J-08	8233646	43991227	15137756	136	95040											
CLPTM1	1209	broad.mit.edu	37	chr19	45494630	45494630	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacggcttcctgctgaccttCggtgagcggtccggccgccc	3	9	13	16	5	0	2	0	2	0	0	3	2	2	2	5	4	3	2	5	4	1	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:45494630C>T	ENST00000541297.2	+	12	1977	c.1513_splice	c.e12+1	p.F504_splice	CLPTM1_ENST00000546079.1_Splice_Site_p.F416_splice|CLPTM1_ENST00000337392.5_Splice_Site_p.F518_splice			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	518					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCTGACCTTCGGTGAGCGGT	0.642													96	38					0	0	0	0	T	45494630	C	T	45494630	5	4	491	1	0	0	0	0	0	0	1	0	3584	898	31	1	1600	1	CLPTM1	19	45494630	Splice_Site	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	1503403	45494630	13634353	137	95041											
ZNF534	147658	broad.mit.edu	37	chr19	52941775	52941775	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catactggagagagaccataCaaatgtaatgaatgtggcaa	17	8	10	6	0	0	3	0	1	0	2	0	5	0	3	1	2	2	2	1	2	6	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:52941775C>A	ENST00000332323.6	+	4	1162	c.1101C>A	c.(1099-1101)taC>taA	p.Y367*	ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Y354*|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGAGACCATACAAATGTAATG	0.423													8	4					0.000157383	0.000161043	1	0	A	52941775	C	A	52941775	4	1	491	1	0	0	0	0	0	1	0	0	18068	489	17	4	1115	4	ZNF534	19	52941775	Nonsense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	7447145	52941775	6187208	138	95042											
PLCB4	5332	broad.mit.edu	37	chr20	9459635	9459635	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaccagcaacagtagtatGaaactccaaaatgcaaactg	18	6	7	10	0	0	2	0	1	0	1	1	2	1	2	2	0	5	4	2	0	7	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:9459635G>C	ENST00000378493.1	+	35	3542	c.3527G>C	c.(3526-3528)tGa>tCa	p.*1176S	PLCB4_ENST00000414679.2_Nonstop_Mutation_p.*1188S|PLCB4_ENST00000378473.3_Nonstop_Mutation_p.*1188S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.M1188I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M1188I|PLCB4_ENST00000278655.4_Nonstop_Mutation_p.*1176S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					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						ACAGTAGTATGAAACTCCAAA	0.433													4	29					0	0	0	0	C	9459635	G	C	9459635	4	2	491	1	0	0	0	0	0	0	0	0	12102	1294	45	2	3746	2	PLCB4	20	9459635	Nonstop_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08		9459635	53565885	139	95043											
PI3	5266	broad.mit.edu	37	chr20	43803615	43803615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctcatcgctgggacgCtggttctagaggcagctgtc	5	12	13	11	2	2	1	1	0	1	1	5	2	3	2	1	3	1	6	1	3	1	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:43803615C>T	ENST00000243924.3	+	1	99	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	18					copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CGCTGGGACGCTGGTTCTAGA	0.572													26	60					0	0	0	0	T	43803615	C	T	43803615	2	4	491	1	0	0	0	0	0	0	0	1	11942	796	28	4		4	PI3	20	43803615	Silent	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	34343980	43803615	19221905	140	95044											
SALL4	57167	broad.mit.edu	37	chr20	50407958	50407971	+	Frame_Shift_Del	DEL	GTGTCTAGCGCCAC	GTGTCTAGCGCCAC	-																															tccccttccctttcttggatGtgtctagcgccacagtggag																								rs13038893	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:50407958_50407971delGTGTCTAGCGCCAC	ENST00000217086.4	-	2	1162_1175	c.1051_1064delGTGGCGCTAGACAC	c.(1051-1065)afs	p.VALDT351fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.VALDT351fs|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	351					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAA	0.607													18	78	---	---	---	---					-	50407971	GTGTCTAGCGCCAC	-	50407958	7	5	491	1	0	1	0	1	0	0	0	0	13898	1377	48	0	2109	0	SALL4	20	50407958	Frame_Shift_Del	DEL	GTGTCTAGCGCCAC	TCGA-UF-A719-01A-12D-A34J-08	6604343	50407958	12617562	141	95045											
TSHZ2	128553	broad.mit.edu	37	chr20	51870694	51870694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctagtcgagctgactgtgCacatgaatgaaacgggccac	11	7	11	12	2	0	3	0	3	0	0	1	4	0	3	2	1	3	2	2	1	3	1			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:51870694C>T	ENST00000371497.5	+	2	1584	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	TSHZ2_ENST00000603338.2_Missense_Mutation_p.H230Y|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H230Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	233					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTGACTGTGCACATGAATGA	0.537													15	28					0	0	0	0	T	51870694	C	T	51870694	3	4	491	1	0	0	0	0	1	0	0	0	16719	710	25	4	703	4	TSHZ2	20	51870694	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	1462736	51870694	11154826	142	95046											
ZNF217	7764	broad.mit.edu	37	chr20	52198785	52198785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgatcgttgctggactaCtctccaagccttgctgcagt	6	13	10	12	2	1	1	0	1	1	0	3	2	1	2	2	1	5	5	2	1	2	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:52198785C>T	ENST00000371471.2	-	2	1006	c.581G>A	c.(580-582)aGt>aAt	p.S194N	ZNF217_ENST00000302342.3_Missense_Mutation_p.S194N			O75362	ZN217_HUMAN	zinc finger protein 217	194					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTGGACTACTCTCCAAGCC	0.498													8	219					0	0	0	0	T	52198785	C	T	52198785	3	4	491	1	0	0	0	0	1	0	0	0	17867	565	20	4	2581	4	ZNF217	20	52198785	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	328091	52198785	10826735	143	95047											
TCFL5	10732	broad.mit.edu	37	chr20	61488874	61488874	+	Frame_Shift_Del	DEL	C	C	-																															ctgccaagcgccttgtgtggCggtggcaccttcgcccacat																										TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:61488874delC	ENST00000335351.3	-	4	1203	c.1111delG	c.(1111-1113)ccfs	p.A371fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.A323fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	371					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					CCTTGTGTGGCGGTGGCACCT	0.582													19	133	---	---	---	---					-	61488874	C	-	61488874	7	5	491	1	0	1	0	1	0	0	0	0	15793	768	27	0	403	0	TCFL5	20	61488874	Frame_Shift_Del	DEL	C	TCGA-UF-A719-01A-12D-A34J-08	9290089	61488874	1536646	144	95048											
GABPA	2551	broad.mit.edu	37	chr21	27113950	27113950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagctgatagaaattgagaTtgatggaacagagaaagcag	17	7	14	3	0	0	5	0	3	0	3	0	9	0	7	0	2	3	2	0	2	4	3			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr21:27113950T>C	ENST00000354828.3	+	2	568	c.41T>C	c.(40-42)aTt>aCt	p.I14T	GABPA_ENST00000487266.1_Intron|GABPA_ENST00000400075.3_Missense_Mutation_p.I14T	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	14					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAAATTGAGATTGATGGAACA	0.333													27	27					0	0	0	0	C	27113950	T	C	27113950	3	2	491	1	0	0	0	0	1	0	0	0	6205	1493	52	5	43	5	GABPA	21	27113950	Missense_Mutation	SNP	T	TCGA-UF-A719-01A-12D-A34J-08		27113950	21015945	145	95049											
BRWD1	54014	broad.mit.edu	37	chr21	40610451	40610451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctgtcacttctccattCatcctcttctgaagaaccag	8	16	4	13	0	6	2	2	1	4	1	8	2	7	2	3	0	1	0	3	0	2	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr21:40610451C>T	ENST00000342449.3	-	22	2608	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E844K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E844K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCTCCATTCATCCTCTTCT	0.383													6	119					0	0	0	0	T	40610451	C	T	40610451	3	4	491	1	0	0	0	0	1	0	0	0	1533	835	29	2	4755	2	BRWD1	21	40610451	Missense_Mutation	SNP	C	TCGA-UF-A719-01A-12D-A34J-08	13496501	40610451	7519444	146	95050											
ZNF280B	140883	broad.mit.edu	37	chr22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaaaattttgagacaaaAgggacaaagcaaattctttg	17	12	8	4	0	1	2	0	2	1	1	1	4	1	3	0	1	1	1	0	1	6	5			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr22:22842418A>G	ENST00000360412.2	-	4	2081	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428													4	287					0	0	0	0	G	22842418	A	G	22842418	3	3	491	1	0	0	0	0	1	0	0	0	17910	72	3	5	329	5	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08		22842418	28462148	147	95051											
ACE2	59272	broad.mit.edu	37	chrX	15613095	15613095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtgtggactgttcctttAaaaaggcagaccatttgtcc	11	12	9	9	0	0	1	0	0	0	1	2	2	2	2	3	2	0	2	3	2	4	4			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chrX:15613095A>G	ENST00000427411.1	-	3	434	c.218T>C	c.(217-219)tTa>tCa	p.L73S	ACE2_ENST00000252519.3_Missense_Mutation_p.L73S	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	73					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CTGTTCCTTTAAAAAGGCAGA	0.398													91	70					0	0	0	0	G	15613095	A	G	15613095	3	3	491	1	0	0	0	0	1	0	0	0	137	372	13	5	2267	5	ACE2	23	15613095	Missense_Mutation	SNP	A	TCGA-UF-A719-01A-12D-A34J-08		15613095	139657465	148	95052											
PDHA1	5160	broad.mit.edu	37	chrX	19373837	19373837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatcctgtgcgtccgagagGcaacaaggtttgctgctgcc	8	10	12	11	2	0	1	0	0	0	1	2	2	2	1	3	2	5	4	3	2	3	2			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chrX:19373837G>A	ENST00000379806.5	+	9	1052	c.907G>A	c.(907-909)Gca>Aca	p.A303T	PDHA1_ENST00000545074.1_Missense_Mutation_p.A272T|PDHA1_ENST00000540249.1_Missense_Mutation_p.A234T|PDHA1_ENST00000422285.2_Missense_Mutation_p.A265T|PDHA1_ENST00000379804.1_5'UTR	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	265					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CGTCCGAGAGGCAACAAGGTT	0.488													12	36					0	0	0	0	A	19373837	G	A	19373837	3	1	491	1	0	0	0	0	1	0	0	0	11735	1203	42	4	962	4	PDHA1	23	19373837	Missense_Mutation	SNP	G	TCGA-UF-A719-01A-12D-A34J-08	3760742	19373837	135896723	149	95053											
KDM4A	9682	broad.mit.edu	37	chr1	44133692	44133692	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggagacctgaagacaaggTaacccagcagcccttttgtc	13	7	10	11	0	0	3	0	1	0	2	1	4	0	3	3	2	3	2	3	2	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:44133692T>C	ENST00000372396.3	+	9	1297		c.e9+2			NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A						interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGACAAGGTAACCCAGCAG	0.532													138	61					0	0	0	0	C	44133692	T	C	44133692	5	2	492	1	0	0	0	0	0	0	1	0	8181	1652	57	5	1195	5	KDM4A	1	44133692	Splice_Site	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08		44133692	205116929	1	95054											
LRRC7	57554	broad.mit.edu	37	chr1	70541831	70541831	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgggagcagcagccgtaTgaaggaaatataaacaaagt	17	5	12	7	2	0	1	0	1	0	0	0	3	0	3	2	2	5	3	2	2	7	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:70541831T>C	ENST00000310961.5	+	24	4480	c.4062T>C	c.(4060-4062)taT>taC	p.Y1354Y	LRRC7_ENST00000035383.5_Silent_p.Y1396Y|LRRC7_ENST00000415775.2_Silent_p.Y680Y			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1396						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCAGCCGTATGAAGGAAATA	0.542													48	26					0	0	0	0	C	70541831	T	C	70541831	2	2	492	1	0	0	0	0	0	0	0	1	9084	1471	51	5		5	LRRC7	1	70541831	Silent	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	26408139	70541831	178708790	2	95055											
GBP3	2635	broad.mit.edu	37	chr1	89474782	89474782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttgcatttcctccaccaTttttgctgaagcctgtgcag	7	16	7	11	0	0	1	0	1	0	0	2	1	2	1	4	0	4	3	4	0	2	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:89474782T>C	ENST00000370481.4	-	10	1727	c.1507A>G	c.(1507-1509)Atg>Gtg	p.M503V		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	503						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCCTCCACCATTTTTGCTGAA	0.388													7	97					0	0	0	0	C	89474782	T	C	89474782	3	2	492	1	0	0	0	0	1	0	0	0	6324	1493	52	5	288	5	GBP3	1	89474782	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	18932951	89474782	159775839	3	95056											
F3	2152	broad.mit.edu	37	chr1	95005817	95005817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtacccagcttaccttaTttgaacagtgtagacttgat	10	15	7	9	0	1	3	0	2	1	1	1	3	1	3	2	0	4	3	2	0	5	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:95005817T>C	ENST00000334047.7	-	2	371	c.208A>G	c.(208-210)Ata>Gta	p.I70V	F3_ENST00000370207.4_Missense_Mutation_p.I70V|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	70					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GCTTACCTTATTTGAACAGTG	0.348													57	26					0	0	0	0	C	95005817	T	C	95005817	3	2	492	1	0	0	0	0	1	0	0	0	5385	1493	52	5	699	5	F3	1	95005817	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	5531035	95005817	154244804	4	95057											
DPYD	1806	broad.mit.edu	37	chr1	98164960	98164960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgatgtcagagtacccCaatcgagccaaaaaggaagc	16	6	10	9	1	1	2	1	1	0	1	2	4	1	3	3	1	3	1	3	1	6	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:98164960C>T	ENST00000370192.3	-	6	727	c.627G>A	c.(625-627)ttG>ttA	p.L209L	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	209					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGAGTACCCCAATCGAGCCA	0.393													4	116					0	0	0	0	T	98164960	C	T	98164960	2	4	492	1	0	0	0	0	0	0	0	1	4781	593	21	4		4	DPYD	1	98164960	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	3159143	98164960	151085661	5	95058											
KCNA2	3737	broad.mit.edu	37	chr1	111147088	111147088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttcagagaatatatctAagggcacattcacaggtcgc	12	12	8	9	1	4	1	2	0	2	1	5	2	4	1	0	2	0	1	0	2	4	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:111147088A>G	ENST00000485317.1	-	3	990	c.317T>C	c.(316-318)tTa>tCa	p.L106S	KCNA2_ENST00000440270.1_Missense_Mutation_p.L106S|KCNA2_ENST00000369770.3_Missense_Mutation_p.L106S|KCNA2_ENST00000316361.4_Missense_Mutation_p.L106S|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	106						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GAATATATCTAAGGGCACATT	0.473													3	35					0	0	0	0	G	111147088	A	G	111147088	3	3	492	1	0	0	0	0	1	0	0	0	8056	372	13	5	1186	5	KCNA2	1	111147088	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	12982128	111147088	138103533	6	95059											
C1orf85	112770	broad.mit.edu	37	chr1	156263268	156263268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaggggaagcttggcAgggcagggctgattctcggc	9	7	18	7	1	1	3	0	2	1	1	2	4	1	4	0	6	1	4	0	6	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:156263268A>G	ENST00000362007.1	-	5	924	c.898T>C	c.(898-900)Tgc>Cgc	p.C300R	C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_3'UTR	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	300					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GAAGCTTGGCAGGGCAGGGCT	0.582													11	34					0	0	0	0	G	156263268	A	G	156263268	3	3	492	1	0	0	0	0	1	0	0	0	2082	188	7	5	330	5	C1orf85	1	156263268	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	45116180	156263268	92987353	7	95060											
OR10J1	26476	broad.mit.edu	37	chr1	159410019	159410019	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtatccaacttgtcctGggggcctgcagcattgggct	5	11	13	12	1	0	0	0	0	0	0	2	0	2	0	3	3	4	4	3	3	2	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:159410019G>T	ENST00000423932.3	+	1	508	c.471G>T	c.(469-471)ctG>ctT	p.L157L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	157					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACTTGTCCTGGGGGCCTGCA	0.498													100	95					4.60726e-43	5.49401e-43	1	0	T	159410019	G	T	159410019	2	4	492	1	0	0	0	0	0	0	0	1	10981	1335	47	4		4	OR10J1	1	159410019	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	3146751	159410019	89840602	8	95061											
UAP1	6675	broad.mit.edu	37	chr1	162549382	162549382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaagaacaaagtttCtatggctccaggtttgtaat	14	11	11	5	0	1	2	0	0	1	2	2	4	2	3	1	3	1	4	1	3	6	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:162549382C>A	ENST00000271469.3	+	4	952	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	UAP1_ENST00000367926.4_Missense_Mutation_p.S217Y|UAP1_ENST00000367924.1_Missense_Mutation_p.S217Y|UAP1_ENST00000367925.1_Missense_Mutation_p.S217Y			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	217					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACAAAGTTTCTATGGCTCCA	0.318													56	41					4.88506e-25	5.72939e-25	1	0	A	162549382	C	A	162549382	3	1	492	1	0	0	0	0	1	0	0	0	16921	913	32	2	660	2	UAP1	1	162549382	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	3139363	162549382	86701239	9	95062											
BLZF1	8548	broad.mit.edu	37	chr1	169345982	169345982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcaatggaagttaaagCtgtaagaatattagttccca	18	10	8	5	0	0	1	0	0	0	1	1	2	1	2	1	1	2	5	1	1	10	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:169345982C>G	ENST00000367808.3	+	3	656	c.233C>G	c.(232-234)gCt>gGt	p.A78G	BLZF1_ENST00000329281.2_Missense_Mutation_p.A78G|BLZF1_ENST00000367807.3_Missense_Mutation_p.A78G			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	78					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAGTTAAAGCTGTAAGAATA	0.403													30	77					0	0	0	0	G	169345982	C	G	169345982	3	3	492	1	0	0	0	0	1	0	0	0	1458	797	28	4	239	4	BLZF1	1	169345982	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	6796600	169345982	79904639	10	95063											
PAPPA2	60676	broad.mit.edu	37	chr1	176564553	176564553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtgtgagcacccactcAcaggctatgatgggggtgac	9	7	14	11	1	1	3	1	3	0	0	1	4	1	3	2	3	1	2	2	3	1	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:176564553A>G	ENST00000367662.3	+	3	2977	c.1813A>G	c.(1813-1815)Aca>Gca	p.T605A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T605A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	605	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACCCACTCACAGGCTATGA	0.587													15	67					0	0	0	0	G	176564553	A	G	176564553	3	3	492	1	0	0	0	0	1	0	0	0	11504	159	6	5	1819	5	PAPPA2	1	176564553	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	7218571	176564553	72686068	11	95064											
LAMC1	3915	broad.mit.edu	37	chr1	183095268	183095268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggtgtgactgccatGccttgggctccaccaatggg	6	12	12	11	0	1	1	1	1	0	0	2	1	2	1	4	3	2	1	4	3	1	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:183095268G>A	ENST00000258341.4	+	16	3072	c.2815G>A	c.(2815-2817)Gcc>Acc	p.A939T	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	939	Laminin EGF-like 10.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGACTGCCATGCCTTGGGCTC	0.488													21	50					0	0	0	0	A	183095268	G	A	183095268	3	1	492	1	0	0	0	0	1	0	0	0	8667	1319	46	4	2877	4	LAMC1	1	183095268	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	6530715	183095268	66155353	12	95065											
DENND1B	163486	broad.mit.edu	37	chr1	197643257	197643257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttatactgtacctttcaaCgtcaaagggaaaacagaact	16	10	6	9	1	2	1	2	0	0	1	2	2	2	2	1	1	5	1	1	1	8	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:197643257C>T	ENST00000235453.4	-	5	416	c.139G>A	c.(139-141)Gtt>Att	p.V47I	DENND1B_ENST00000367396.3_Missense_Mutation_p.V57I|DENND1B_ENST00000400967.2_Missense_Mutation_p.V47I			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	57	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TACCTTTCAACGTCAAAGGGA	0.264													18	16					0	0	0	0	T	197643257	C	T	197643257	3	4	492	1	0	0	0	0	1	0	0	0	4464	536	19	1	2279	1	DENND1B	1	197643257	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	14547989	197643257	51607364	13	95066											
ESRRG	2104	broad.mit.edu	37	chr1	216737575	216737575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacctggaatatgcttcGcccatccaatgataaccacc	12	10	6	13	1	0	1	0	1	0	0	2	2	1	2	5	1	3	2	5	1	5	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:216737575G>A	ENST00000391890.3	-	7	1317	c.800C>T	c.(799-801)gCg>gTg	p.A267V	ESRRG_ENST00000360012.3_Missense_Mutation_p.A260V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A295V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A260V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A260V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A260V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A283V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A260V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A260V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A221V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A260V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A260V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A260V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	283					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AATATGCTTCGCCCATCCAAT	0.418													27	66					0	0	0	0	A	216737575	G	A	216737575	3	1	492	1	0	0	0	0	1	0	0	0	5300	1087	38	1	540	1	ESRRG	1	216737575	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	19094318	216737575	32513046	14	95067											
LYPLAL1	127018	broad.mit.edu	37	chr1	219383944	219383944	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaagatgtggcaggagtAtttgctctttctagttttct	8	17	9	7	0	4	1	1	0	3	1	4	2	4	2	0	2	1	4	0	2	3	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:219383944A>G	ENST00000366928.5	+	4	479	c.432A>G	c.(430-432)gtA>gtG	p.V144V	LYPLAL1_ENST00000366927.3_Silent_p.V128V|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	144						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGGCAGGAGTATTTGCTCTTT	0.299													37	31					0	0	0	0	G	219383944	A	G	219383944	2	3	492	1	0	0	0	0	0	0	0	1	9183	436	16	5		5	LYPLAL1	1	219383944	Silent	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	2646369	219383944	29866677	15	95068											
SNTG2	54221	broad.mit.edu	37	chr2	1271319	1271319	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtccttccaaagagccacGttcatggaagttcagagaac	14	8	9	10	1	2	2	2	0	0	2	4	4	4	3	3	1	2	2	3	1	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:1271319G>A	ENST00000308624.5	+	14	1389	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	SNTG2_ENST00000407292.1_Silent_p.T293T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	420	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAAGAGCCACGTTCATGGAAG	0.527													11	41					0	0	0	0	A	1271319	G	A	1271319	2	1	492	1	0	0	0	0	0	0	0	1	14963	1132	40	1		1	SNTG2	2	1271319	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		1271319	241928054	16	95069											
TRIB2	28951	broad.mit.edu	37	chr2	12880597	12880597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgggcaaagcagccgacGtgtggagcctgggggtgatg	8	6	18	9	3	0	1	0	1	0	0	1	3	0	2	2	4	3	2	2	4	1	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:12880597G>T	ENST00000155926.4	+	3	2128	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	TRIB2_ENST00000381465.2_Missense_Mutation_p.V101L	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	237	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCAGCCGACGTGTGGAGCCT	0.587													32	53					1.74807e-11	1.93852e-11	1	0	T	12880597	G	T	12880597	3	4	492	1	0	0	0	0	1	0	0	0	16578	1145	40	3	719	3	TRIB2	2	12880597	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	11609278	12880597	230318776	17	95070											
NT5C1B	93034	broad.mit.edu	37	chr2	18766140	18766140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccggggcagctggggcgaCgcgggtggctggagcgaggg	5	3	24	9	5	0	0	0	0	0	0	0	4	0	1	1	8	2	3	1	8	0	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:18766140C>T	ENST00000304081.4	-	4	463	c.363G>A	c.(361-363)gcG>gcA	p.A121A	NT5C1B_ENST00000359846.2_Silent_p.A181A|NT5C1B_ENST00000600945.1_Silent_p.A181A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A181A	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTGGGGCGACGCGGGTGGCT	0.716													8	21					0	0	0	0	T	18766140	C	T	18766140	2	4	492	1	0	0	0	0	0	0	0	1	10757	523	19	1		1	NT5C1B	2	18766140	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	5885543	18766140	224433233	18	95071											
HS1BP3	64342	broad.mit.edu	37	chr2	20840568	20840568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagggtaggcctccttctgCccaccatccagccaaggatg	9	7	10	15	0	1	0	0	0	1	0	3	1	3	1	6	3	2	1	6	3	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:20840568C>T	ENST00000406618.3	-	3	591	c.571G>A	c.(571-573)Gca>Aca	p.A191T	HS1BP3_ENST00000402541.1_Intron|HS1BP3_ENST00000304031.3_Intron			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	0					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTTCTGCCCACCATCCA	0.627													7	11					0	0	0	0	T	20840568	C	T	20840568	3	4	492	1	0	0	0	0	1	0	0	0	7411	754	26	4		4	HS1BP3	2	20840568	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2074428	20840568	222358805	19	95072											
PLB1	151056	broad.mit.edu	37	chr2	28766125	28766125	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgctggcctggcatctctGgaataggatggtgagtagat	9	10	14	8	1	1	2	0	1	1	1	2	4	1	4	1	5	0	3	1	5	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:28766125G>A	ENST00000422425.2	+	14	1003	c.959G>A	c.(958-960)tGg>tAg	p.W320*	PLB1_ENST00000327757.5_Nonsense_Mutation_p.W309*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	309	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGCATCTCTGGAATAGGATG	0.617													11	11					0	0	0	0	A	28766125	G	A	28766125	4	1	492	1	0	0	0	0	0	1	0	0	12096	1357	47	4	1013	4	PLB1	2	28766125	Nonsense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	7925557	28766125	214433248	20	95073											
XDH	7498	broad.mit.edu	37	chr2	31589782	31589782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacaaagagctccatctccCctgcctcgccttttggaaca	10	9	6	16	1	1	1	0	0	1	1	4	2	2	2	5	1	3	1	5	1	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:31589782C>T	ENST00000379416.3	-	21	2324	c.2276G>A	c.(2275-2277)gGg>gAg	p.G759E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	759					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCCATCTCCCCTGCCTCGCC	0.552													32	142					0	0	0	0	T	31589782	C	T	31589782	3	4	492	1	0	0	0	0	1	0	0	0	17522	623	22	4	1789	4	XDH	2	31589782	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2823657	31589782	211609591	21	95074											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48848402	48848402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttcagttgccgcacagcTtgcaccaaacattgcaatcg	10	10	7	14	2	2	0	1	0	1	0	3	0	2	0	2	0	5	5	2	0	2	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:48848402T>G	ENST00000394754.1	+	5	2446	c.2332T>G	c.(2332-2334)Ttg>Gtg	p.L778V	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L778V|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L40V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L778V|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.L74V|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L778V	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		778					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGCACAGCTTGCACCAAAC	0.403													24	116					0	0	0	0	G	48848402	T	G	48848402	3	3	492	1	0	0	0	0	1	0	0	0	15407	1606	56	5	2346	5	STON1-GTF2A1L	2	48848402	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	17258620	48848402	194350971	22	95075											
BCL11A	53335	broad.mit.edu	37	chr2	60695932	60695932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagagctccatgtgcagaaCgaggggaggagaggcccctc	10	6	15	10	1	0	3	0	0	0	3	2	6	1	4	3	4	3	2	3	4	2	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:60695932C>G	ENST00000335712.6	-	3	649	c.422G>C	c.(421-423)cGt>cCt	p.R141P	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.R141P|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000359629.5_Missense_Mutation_p.R141P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	141	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ATGTGCAGAACGAGGGGAGGA	0.473			T	IGH@	B-CLL								10	65					0	0	0	0	G	60695932	C	G	60695932	3	3	492	1	0	0	0	0	1	0	0	0	1367	536	19	3	2199	3	BCL11A	2	60695932	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	11847530	60695932	182503441	23	95076											
LOXL3	84695	broad.mit.edu	37	chr2	74779668	74779668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggccttcttctcagggcCcgtggaaggggacggagacc	6	6	15	14	3	2	1	1	0	2	1	3	4	2	3	4	6	0	0	4	6	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:74779668C>T	ENST00000264094.3	-	2	165	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	LOXL3_ENST00000393937.2_Missense_Mutation_p.G32S|LOXL3_ENST00000409549.1_Missense_Mutation_p.G32S|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409986.1_Missense_Mutation_p.G32S|LOXL3_ENST00000409249.1_Missense_Mutation_p.G32S|DOK1_ENST00000409429.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	32						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TTCTCAGGGCCCGTGGAAGGG	0.677													15	31					0	0	0	0	T	74779668	C	T	74779668	3	4	492	1	0	0	0	0	1	0	0	0	8965	623	22	4	2219	4	LOXL3	2	74779668	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	14083736	74779668	168419705	24	95077											
GCC2	9648	broad.mit.edu	37	chr2	109088522	109088522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaacctaaagccactaCtagaacaaaaagaattacga	22	6	5	8	1	0	3	0	1	0	2	0	4	0	3	2	0	5	0	2	0	11	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:109088522C>T	ENST00000309863.6	+	6	3451	c.2737C>T	c.(2737-2739)Cta>Tta	p.L913L		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	913					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGCCACTACTAGAACAAAA	0.289													47	178					0	0	0	0	T	109088522	C	T	109088522	2	4	492	1	0	0	0	0	0	0	0	1	6335	564	20	4		4	GCC2	2	109088522	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	34308854	109088522	134110851	25	95078											
PSD4	23550	broad.mit.edu	37	chr2	113940316	113940316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagcaaacccgggccactGaccctcctgaatctaccaga	12	5	9	15	1	1	3	0	2	1	1	2	4	2	4	5	2	3	1	5	2	3	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:113940316G>A	ENST00000245796.6	+	2	478	c.283G>A	c.(283-285)Gac>Aac	p.D95N	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.D95N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	95					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGGGCCACTGACCCTCCTGA	0.642													14	44					0	0	0	0	A	113940316	G	A	113940316	3	1	492	1	0	0	0	0	1	0	0	0	12728	1290	45	2	285	2	PSD4	2	113940316	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	4851794	113940316	129259057	26	95079											
GALNT13	114805	broad.mit.edu	37	chr2	155099238	155099238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagttgacattagagaattAcgtgaaaaatttagaagtgc	17	11	9	4	1	0	4	0	2	0	2	0	5	0	4	0	0	2	1	0	0	8	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:155099238A>G	ENST00000392825.3	+	6	1073	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	GALNT13_ENST00000409237.1_Missense_Mutation_p.Y169C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	169	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTAGAGAATTACGTGAAAAAT	0.348													15	55					0	0	0	0	G	155099238	A	G	155099238	3	3	492	1	0	0	0	0	1	0	0	0	6260	391	14	5	520	5	GALNT13	2	155099238	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	41158922	155099238	88100135	27	95080											
HOXD3	3232	broad.mit.edu	37	chr2	177036642	177036642	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaatatgtacggcctggcCgcctacacggcgccactcag	8	6	10	17	4	1	0	1	0	0	0	1	0	1	0	5	3	2	1	5	3	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:177036642C>A	ENST00000468418.3	+	4	3029	c.939C>A	c.(937-939)gcC>gcA	p.A313A	HOXD3_ENST00000410016.1_Silent_p.A313A|HOXD3_ENST00000249440.3_Silent_p.A313A			P31249	HXD3_HUMAN	homeobox D3	313					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACGGCCTGGCCGCCTACACGG	0.692													5	24					0.014758	0.014915	1	0	A	177036642	C	A	177036642	2	1	492	1	0	0	0	0	0	0	0	1	7373	639	23	3		3	HOXD3	2	177036642	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	21937404	177036642	66162731	28	95081											
ICA1L	130026	broad.mit.edu	37	chr2	203693718	203693718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttatcttctggtctgggttgCccaaaggaatccatggagtg	8	13	12	8	0	3	0	0	0	3	0	4	2	4	2	2	4	1	1	2	4	3	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:203693718C>T	ENST00000392237.2	-	3	172	c.15G>A	c.(13-15)ggG>ggA	p.G5G	ICA1L_ENST00000418208.1_Silent_p.G5G|ICA1L_ENST00000425178.1_Silent_p.G5G|ICA1L_ENST00000358299.2_Silent_p.G5G	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	5										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTGGGTTGCCCAAAGGAAT	0.383													44	113					0	0	0	0	T	203693718	C	T	203693718	2	4	492	1	0	0	0	0	0	0	0	1	7531	726	26	4		4	ICA1L	2	203693718	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	26657076	203693718	39505655	29	95082											
MKRN2	23609	broad.mit.edu	37	chr3	12616300	12616300	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgcttcagatctgcatgTtgacgttcgaacacgagatg	9	12	11	9	3	2	3	1	1	1	2	3	5	2	3	0	0	3	4	0	0	1	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:12616300T>C	ENST00000170447.7	+	5	789	c.652T>C	c.(652-654)Ttg>Ctg	p.L218L	MKRN2_ENST00000411987.1_Silent_p.L175L|MKRN2_ENST00000448482.1_Silent_p.L216L	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	218	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GATCTGCATGTTGACGTTCGA	0.552													68	35					0	0	0	0	C	12616300	T	C	12616300	2	2	492	1	0	0	0	0	0	0	0	1	9676	1722	60	5		5	MKRN2	3	12616300	Silent	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08		12616300	185406130	30	95083											
RAB5A	5868	broad.mit.edu	37	chr3	20017551	20017551	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaacaggagtcctttgcaAgagcaaaaaattgggttaaa	16	11	9	5	0	0	1	0	0	0	1	1	2	1	2	1	2	3	3	1	2	7	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:20017551A>T	ENST00000273047.4	+	4	864	c.328A>T	c.(328-330)Aga>Tga	p.R110*	RAB5A_ENST00000422242.1_Nonsense_Mutation_p.R96*	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	110					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						GTCCTTTGCAAGAGCAAAAAA	0.403													16	31					0	0	0	0	T	20017551	A	T	20017551	4	4	492	1	0	0	0	0	0	1	0	0	13030	64	3	5	338	5	RAB5A	3	20017551	Nonsense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	7401251	20017551	178004879	31	95084											
GLB1	2720	broad.mit.edu	37	chr3	33118660	33118660	+	Frame_Shift_Del	DEL	T	T	-																															cggtgcagtcttggtacctcTtttgtgaagcggcagctgag																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:33118660delT	ENST00000445488.2	-	2	205	c.145delA	c.(145-147)gafs	p.R49fs	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron			P16278	BGAL_HUMAN	galactosidase, beta 1	25			R -> C (in GM1G1).|R -> H (in GM1G3).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTGGTACCTCTTTTGTGAAGC	0.488													2	4	---	---	---	---					-	33118660	T	-	33118660	7	5	492	1	0	1	0	1	0	0	0	0	6478	1624	56	0		0	GLB1	3	33118660	Frame_Shift_Del	DEL	T	TCGA-UF-A71A-01A-22D-A34J-08	13101109	33118660	164903770	32	95085											
CSRNP1	64651	broad.mit.edu	37	chr3	39186697	39186697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagacggtgatcccatcaaAggctacacggcctgggcgct	10	6	13	12	3	1	2	1	1	0	1	2	3	2	2	2	4	1	2	2	4	3	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:39186697A>G	ENST00000273153.5	-	3	433	c.256T>C	c.(256-258)Ttt>Ctt	p.F86L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.F86L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	86					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						ATCCCATCAAAGGCTACACGG	0.607													18	37					0	0	0	0	G	39186697	A	G	39186697	3	3	492	1	0	0	0	0	1	0	0	0	3995	72	3	5	1525	5	CSRNP1	3	39186697	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	6068037	39186697	158835733	33	95086											
DNAH1	25981	broad.mit.edu	37	chr3	52384124	52384124	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggctggtgggcctggaGgtgaggcaggcacacgggca	8	4	21	8	1	0	2	0	1	0	1	0	4	0	3	1	8	0	4	1	8	0	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:52384124G>T	ENST00000420323.2	+	15	2907	c.2646_splice	c.e15+1	p.E882_splice		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	882	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGGCCTGGAGGTGAGGCAGG	0.652													11	10					3.07112e-06	3.27816e-06	1	0	T	52384124	G	T	52384124	5	4	492	1	0	0	0	0	0	0	1	0	4634	1014	35	4	2700	4	DNAH1	3	52384124	Splice_Site	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	13197427	52384124	145638306	34	95087											
FILIP1L	11259	broad.mit.edu	37	chr3	99567930	99567930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctccttggatttcatccaggGaatccatagctttctgttaa	9	15	7	10	0	2	0	1	0	1	0	5	2	5	2	3	2	1	2	3	2	3	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:99567930G>A	ENST00000331335.5	-	5	3060	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P864S|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440S|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624S	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	864						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCATCCAGGGAATCCATAGC	0.463													50	239					0	0	0	0	A	99567930	G	A	99567930	3	1	492	1	0	0	0	0	1	0	0	0	5940	1174	41	2	846	2	FILIP1L	3	99567930	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	47183806	99567930	98454500	35	95088											
CD200R1L	344807	broad.mit.edu	37	chr3	112546292	112546292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaatacccgtcatgagTggtgtccaccggacgaatct	9	11	10	11	3	3	1	1	1	2	0	4	3	4	2	3	2	1	1	3	2	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:112546292T>C	ENST00000488794.1	-	5	878	c.289A>G	c.(289-291)Act>Gct	p.T97A	CD200R1L_ENST00000398214.1_Missense_Mutation_p.T118A|CD200R1L_ENST00000448932.1_Missense_Mutation_p.T97A			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	118	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CCGTCATGAGTGGTGTCCACC	0.463													152	137					0	0	0	0	C	112546292	T	C	112546292	3	2	492	1	0	0	0	0	1	0	0	0	3011	1696	59	5	479	5	CD200R1L	3	112546292	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	12978362	112546292	85476138	36	95089											
IGSF11	152404	broad.mit.edu	37	chr3	118623574	118623574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgcccctaaaattagtgCaatgcaaaaaatgataataa	20	9	6	6	0	0	1	0	1	0	0	0	2	0	1	2	0	3	2	2	0	10	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:118623574C>T	ENST00000354673.2	-	8	1152	c.772G>A	c.(772-774)Gca>Aca	p.A258T	IGSF11_ENST00000489689.1_Missense_Mutation_p.A235T|IGSF11_ENST00000393775.2_Missense_Mutation_p.A259T|IGSF11_ENST00000441144.2_Missense_Mutation_p.A234T|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000425327.2_Missense_Mutation_p.A258T	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	259					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAATTAGTGCAATGCAAAAA	0.338													6	378					0	0	0	0	T	118623574	C	T	118623574	3	4	492	1	0	0	0	0	1	0	0	0	7651	710	25	4	528	4	IGSF11	3	118623574	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	6077282	118623574	79398856	37	95090											
ZNF148	7707	broad.mit.edu	37	chr3	124998000	124998000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacatgtctctgtaagtgaTagttcgttctaaaggcagca	12	12	10	7	1	2	2	0	1	2	1	4	2	2	2	0	1	1	5	0	1	4	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:124998000T>C	ENST00000360647.4	-	6	1036	c.551A>G	c.(550-552)tAt>tGt	p.Y184C	ZNF148_ENST00000492394.1_Missense_Mutation_p.Y184C|SLC12A8_ENST00000423114.2_Missense_Mutation_p.I8V|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	184					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTGTAAGTGATAGTTCGTTCT	0.358													82	139					0	0	0	0	C	124998000	T	C	124998000	3	2	492	1	0	0	0	0	1	0	0	0	17829	1406	49	5	1849	5	ZNF148	3	124998000	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	6374426	124998000	73024430	38	95091											
ALDH1L1	10840	broad.mit.edu	37	chr3	125826019	125826019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatgatcatgacaggcccGaaggactcctccttggctat	10	9	11	11	1	1	3	1	2	0	1	3	6	3	4	3	3	0	1	3	3	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:125826019G>A	ENST00000393434.2	-	21	2767	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.F816F|ALDH1L1_ENST00000472186.1_Silent_p.F806F|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.F705F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	806	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGACAGGCCCGAAGGACTCCT	0.512													56	336					0	0	0	0	A	125826019	G	A	125826019	2	1	492	1	0	0	0	0	0	0	0	1	494	1049	37	1		1	ALDH1L1	3	125826019	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	828019	125826019	72196411	39	95092											
KBTBD12	166348	broad.mit.edu	37	chr3	127682212	127682212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggaaactctatgtctgcgGgggattccatggagcaggta	9	10	15	7	1	2	0	0	0	2	0	3	3	3	3	1	5	3	2	1	5	3	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:127682212G>A	ENST00000405109.1	+	5	2140	c.1673G>A	c.(1672-1674)gGg>gAg	p.G558E	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.G558E|KBTBD12_ENST00000343941.4_Missense_Mutation_p.G133E|KBTBD12_ENST00000407609.3_Missense_Mutation_p.G165E			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	558										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TATGTCTGCGGGGGATTCCAT	0.488													8	33					0	0	0	0	A	127682212	G	A	127682212	3	1	492	1	0	0	0	0	1	0	0	0	8044	1232	43	4	1687	4	KBTBD12	3	127682212	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	1856193	127682212	70340218	40	95093											
COL6A6	131873	broad.mit.edu	37	chr3	130305488	130305488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgagagaacttggaagccGgctgtcaaagcagctggtaa	13	7	13	8	1	1	2	1	1	0	1	1	4	1	3	1	3	4	4	1	3	4	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:130305488G>A	ENST00000358511.6	+	10	4140	c.4109G>A	c.(4108-4110)cGg>cAg	p.R1370Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1370Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1370	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTGGAAGCCGGCTGTCAAAG	0.373													36	67					0	0	0	0	A	130305488	G	A	130305488	3	1	492	1	0	0	0	0	1	0	0	0	3733	1116	39	1	4147	1	COL6A6	3	130305488	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	2623276	130305488	67716942	41	95094											
ASTE1	28990	broad.mit.edu	37	chr3	130737546	130737546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctaacagaagcatctgccgCctcctcaaggagagctgaaa	13	7	9	12	1	3	3	1	1	2	2	4	4	4	3	3	1	4	2	3	1	4	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:130737546C>T	ENST00000264992.3	-	4	1758	c.1317G>A	c.(1315-1317)agG>agA	p.R439R	ASTE1_ENST00000514044.1_Silent_p.R439R	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	439					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GCATCTGCCGCCTCCTCAAGG	0.433													17	79					0	0	0	0	T	130737546	C	T	130737546	2	4	492	1	0	0	0	0	0	0	0	1	1066	738	26	4		4	ASTE1	3	130737546	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	432058	130737546	67284884	42	95095											
TRIM42	287015	broad.mit.edu	37	chr3	140401413	140401413	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattgccccatgtgcagcCggctgcgcctgcactcattc	6	10	9	16	2	2	0	2	0	0	0	3	0	2	0	4	1	5	3	4	1	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:140401413C>A	ENST00000286349.3	+	2	642	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	151						intracellular	zinc ion binding	p.R151R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATGTGCAGCCGGCTGCGCCT	0.592													6	153					8.12818e-05	8.39323e-05	1	0	A	140401413	C	A	140401413	2	1	492	1	0	0	0	0	0	0	0	1	16612	643	23	3		3	TRIM42	3	140401413	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	9663867	140401413	57621017	43	95096											
SIAH2	6478	broad.mit.edu	37	chr3	150460311	150460311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgtcttctccctgaaGggtggtaatgctcttgtggg	6	13	14	8	1	3	1	0	1	3	0	4	3	3	1	1	3	1	2	1	3	2	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:150460311G>T	ENST00000312960.3	-	2	1119	c.592C>A	c.(592-594)Ctt>Att	p.L198I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	198	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTCCCTGAAGGGTGGTAATG	0.537													59	103					2.37032e-18	2.71302e-18	1	0	T	150460311	G	T	150460311	3	4	492	1	0	0	0	0	1	0	0	0	14388	1000	35	4	386	4	SIAH2	3	150460311	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	10058898	150460311	47562119	44	95097											
IGSF10	285313	broad.mit.edu	37	chr3	151166279	151166279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtctccttggcctgggCagttcaggccaacggttcca	5	10	14	12	1	2	0	1	0	1	0	4	0	3	0	4	6	1	3	4	6	1	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:151166279C>A	ENST00000282466.3	-	4	1489	c.1490G>T	c.(1489-1491)tGc>tTc	p.C497F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	497	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGGCCTGGGCAGTTCAGGCC	0.493													61	288					1.22119e-34	1.44415e-34	1	0	A	151166279	C	A	151166279	3	1	492	1	0	0	0	0	1	0	0	0	7650	710	25	4	6441	4	IGSF10	3	151166279	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	705968	151166279	46856151	45	95098											
VEPH1	79674	broad.mit.edu	37	chr3	157178057	157178057	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagacaggtagttagacaTattcctgcacagttccttgt	11	12	9	9	0	0	2	0	0	0	2	2	3	2	2	2	1	1	4	2	1	3	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:157178057T>A	ENST00000362010.2	-	4	749	c.442A>T	c.(442-444)Atg>Ttg	p.M148L	VEPH1_ENST00000537559.1_Missense_Mutation_p.M148L|VEPH1_ENST00000468233.1_Missense_Mutation_p.M148L|VEPH1_ENST00000392833.2_Missense_Mutation_p.M148L|VEPH1_ENST00000543418.1_Missense_Mutation_p.M148L|VEPH1_ENST00000392832.2_Missense_Mutation_p.M148L|VEPH1_ENST00000494677.1_Missense_Mutation_p.M148L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	148						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGTTAGACATATTCCTGCAC	0.463													44	148					0	0	0	0	A	157178057	T	A	157178057	3	1	492	1	0	0	0	0	1	0	0	0	17250	1406	49	5	2225	5	VEPH1	3	157178057	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	6011778	157178057	40844373	46	95099											
IFT80	57560	broad.mit.edu	37	chr3	160000392	160000392	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatccagagcaatttccaAgatttcattctaaaattttt	13	17	4	7	0	2	3	1	1	1	2	4	3	4	3	2	0	1	1	2	0	4	7			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:160000392A>C	ENST00000326448.7	-	14	1822	c.1390T>G	c.(1390-1392)Ttg>Gtg	p.L464V	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L635V|IFT80_ENST00000496589.1_Missense_Mutation_p.L327V|IFT80_ENST00000483465.1_Missense_Mutation_p.L327V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	464						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCAATTTCCAAGATTTCATTC	0.259													28	142					0	0	0	0	C	160000392	A	C	160000392	3	2	492	1	0	0	0	0	1	0	0	0	7617	69	3	5	971	5	IFT80	3	160000392	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	2822335	160000392	38022038	47	95100											
SI	6476	broad.mit.edu	37	chr3	164758727	164758727	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattgtacgtagtactcaCtcatgaagaactggtcttgc	11	14	8	8	1	3	2	2	1	1	1	3	2	3	2	0	1	4	3	0	1	6	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:164758727C>T	ENST00000264382.3	-	18	2222		c.e18+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAGTACTCACTCATGAAGAA	0.318										HNSCC(35;0.089)			156	174					0	0	0	0	T	164758727	C	T	164758727	5	4	492	1	0	0	0	0	0	0	1	0	14385	579	20	4	3447	4	SI	3	164758727	Splice_Site	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	4758335	164758727	33263703	48	95101											
GHSR	2693	broad.mit.edu	37	chr3	172166087	172166087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcccgccagcagcggcgcGgggaagagctgcagcagctc	8	2	16	15	5	0	1	0	0	0	1	1	2	0	2	2	3	6	5	2	3	1	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:172166087G>A	ENST00000241256.2	-	1	159	c.117C>T	c.(115-117)ccC>ccT	p.P39P	GHSR_ENST00000427970.1_Silent_p.P39P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	39					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCAGCGGCGCGGGGAAGAGCT	0.687													5	82					0	0	0	0	A	172166087	G	A	172166087	2	1	492	1	0	0	0	0	0	0	0	1	6426	1103	39	1		1	GHSR	3	172166087	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	7407360	172166087	25856343	49	95102											
USP13	8975	broad.mit.edu	37	chr3	179439330	179439330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggcaacagctgctatctCagctctgtcatgcaggccat	8	10	10	13	0	3	0	2	0	2	0	4	0	3	0	1	2	5	5	1	2	2	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:179439330C>T	ENST00000263966.3	+	8	1512	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	USP13_ENST00000496897.1_Silent_p.L282L|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	347					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GCTGCTATCTCAGCTCTGTCA	0.567													13	146					0	0	0	0	T	179439330	C	T	179439330	2	4	492	1	0	0	0	0	0	0	0	1	17140	813	29	2		2	USP13	3	179439330	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	7273243	179439330	18583100	50	95103											
MCF2L2	23101	broad.mit.edu	37	chr3	182897937	182897937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatggagctaaactccctGctggagcagccttagggaga	10	8	12	11	0	0	1	0	0	0	1	2	4	2	3	3	3	5	3	3	3	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:182897937G>A	ENST00000328913.3	-	28	3324	c.3027C>T	c.(3025-3027)agC>agT	p.S1009S	MCF2L2_ENST00000473233.1_Silent_p.S1009S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1009					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TAAACTCCCTGCTGGAGCAGC	0.547													54	450					0	0	0	0	A	182897937	G	A	182897937	2	1	492	1	0	0	0	0	0	0	0	1	9449	1310	46	4		4	MCF2L2	3	182897937	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	3458607	182897937	15124493	51	95104											
GABRG1	2565	broad.mit.edu	37	chr4	46067594	46067594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaaaattatatctattGtatattcctaaaatataaga	18	14	5	4	0	1	1	0	0	1	1	2	1	2	1	1	1	0	2	1	1	11	10			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:46067594G>T	ENST00000295452.4	-	4	496	c.329C>A	c.(328-330)aCa>aAa	p.T110K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	110					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TATATCTATTGTATATTCCTA	0.274													12	7					0.00010058	0.000103485	1	0	T	46067594	G	T	46067594	3	4	492	1	0	0	0	0	1	0	0	0	6219	1377	48	4	1092	4	GABRG1	4	46067594	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		46067594	145086682	52	95105											
NDST4	64579	broad.mit.edu	37	chr4	115749064	115749064	+	Frame_Shift_Del	DEL	G	G	-																															tagttccacattatgatctcGgtagtaattagagaggaacg																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:115749064delG	ENST00000264363.2	-	14	3205	c.2527delC	c.(2527-2529)gafs	p.R843fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	843	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTATGATCTCGGTAGTAATTA	0.408													36	51	---	---	---	---					-	115749064	G	-	115749064	7	5	492	1	0	1	0	1	0	0	0	0	10328	1124	39	0	95	0	NDST4	4	115749064	Frame_Shift_Del	DEL	G	TCGA-UF-A71A-01A-22D-A34J-08	69681470	115749064	75405212	53	95106											
KIAA0922	23240	broad.mit.edu	37	chr4	154557505	154557505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgtctggactttttggttCcatctgggccccgcaaagcg	7	12	11	11	2	2	0	0	0	2	0	3	1	3	1	3	3	1	2	3	3	2	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:154557505C>T	ENST00000409663.3	+	35	4659	c.4607C>T	c.(4606-4608)tCc>tTc	p.S1536F	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1453F|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1537F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1536						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTTTTTGGTTCCATCTGGGCC	0.463													31	60					0	0	0	0	T	154557505	C	T	154557505	3	4	492	1	0	0	0	0	1	0	0	0	8252	855	30	2	4748	2	KIAA0922	4	154557505	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	38808441	154557505	36596771	54	95107											
RAPGEF2	9693	broad.mit.edu	37	chr4	160277110	160277110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatccagccaggaaacCgccggactacaacgtggccc	10	4	9	18	3	0	0	0	0	0	0	2	2	2	2	6	3	4	0	6	3	3	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:160277110C>T	ENST00000264431.4	+	23	4693	c.4274C>T	c.(4273-4275)cCg>cTg	p.P1425L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1425					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCCAGGAAACCGCCGGACTAC	0.612													7	6					0	0	0	0	T	160277110	C	T	160277110	3	4	492	1	0	0	0	0	1	0	0	0	13126	652	23	1	4364	1	RAPGEF2	4	160277110	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	5719605	160277110	30877166	55	95108											
FSTL5	56884	broad.mit.edu	37	chr4	163032436	163032436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtaccttatgtcgcaatCtcattagaggctgataggat	11	13	9	8	1	1	2	1	1	1	1	3	3	1	3	1	2	1	3	1	2	5	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:163032436C>G	ENST00000306100.5	-	2	549	c.113G>C	c.(112-114)aGa>aCa	p.R38T	FSTL5_ENST00000379164.4_Missense_Mutation_p.R38T|FSTL5_ENST00000536695.1_Missense_Mutation_p.R38T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R38T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	38						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTCGCAATCTCATTAGAGG	0.403													66	65					0	0	0	0	G	163032436	C	G	163032436	3	3	492	1	0	0	0	0	1	0	0	0	6128	913	32	2	2490	2	FSTL5	4	163032436	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2755326	163032436	28121840	56	95109											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-																															ccgcgcctcctcctcgccccCctcctcctcctcgccctccg																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	90	---	---	---	---					-	1879671	CCT	-	1879669	7	5	492	1	0	1	0	1	0	0	0	0	7899	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-UF-A71A-01A-22D-A34J-08		1879669	179035591	57	95110											
LIFR	3977	broad.mit.edu	37	chr5	38506107	38506107	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatttggaagcatttgAaataataattgatagctttc	13	17	7	4	0	1	3	0	3	1	0	2	4	1	4	0	1	2	2	0	1	5	8			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:38506107A>G	ENST00000263409.4	-	9	1353	c.1191T>C	c.(1189-1191)ttT>ttC	p.F397F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.F397F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	397	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAAGCATTTGAAATAATAATT	0.274			T	PLAG1	salivary adenoma								10	275					0	0	0	0	G	38506107	A	G	38506107	2	3	492	1	0	0	0	0	0	0	0	1	8834	243	9	5		5	LIFR	5	38506107	Silent	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	36626438	38506107	142409153	58	95111											
CARD6	84674	broad.mit.edu	37	chr5	40843385	40843406	+	Frame_Shift_Del	DEL	CACTTGGATTTGGAAACCTCTG	CACTTGGATTTGGAAACCTCTG	-																															tgttcttcagtgagaaggaaCacttggatttggaaacctct																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40843385_40843406delCACTTGGATTTGGAAACCTCTG	ENST00000254691.5	+	2	614_635	c.415_436delCACTTGGATTTGGAAACCTCTG	c.(415-438)agfs	p.HLDLETSE139fs	CARD6_ENST00000381677.3_Frame_Shift_Del_p.HLDLETSE139fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	139					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAGAAGGAACACTTGGATTTGGAAACCTCTGAGTTTTTCAG	0.414													17	148	---	---	---	---					-	40843406	CACTTGGATTTGGAAACCTCTG	-	40843385	7	5	492	1	0	1	0	1	0	0	0	0	2675	478	17	0	421	0	CARD6	5	40843385	Frame_Shift_Del	DEL	CACTTGGATTTGGAAACCTCTG	TCGA-UF-A71A-01A-22D-A34J-08	2337278	40843385	140071875	59	95112											
C7	730	broad.mit.edu	37	chr5	40958310	40958310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtgccattgcaaacCgtacacatttggtgcggcgt	7	13	11	10	3	1	0	0	0	1	0	1	0	1	0	2	2	5	2	2	2	2	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40958310C>T	ENST00000313164.9	+	11	1795	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	479	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.P479Q(1)					Ovarian(839;0.0112)				CATTGCAAACCGTACACATTT	0.507													4	153					0	0	0	0	T	40958310	C	T	40958310	3	4	492	1	0	0	0	0	1	0	0	0	2398	652	23	1	1478	1	C7	5	40958310	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	114925	40958310	139956950	60	95113											
GPR98	84059	broad.mit.edu	37	chr5	90021381	90021381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaggtacaaacaatcattAttctggaaagttctcaagta	15	12	7	7	0	3	0	2	0	2	0	4	1	3	1	0	2	3	4	0	2	7	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:90021381A>G	ENST00000405460.2	+	48	10165	c.10069A>G	c.(10069-10071)Att>Gtt	p.I3357V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3357					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACAATCATTATTCTGGAAAG	0.343													23	48					0	0	0	0	G	90021381	A	G	90021381	3	3	492	1	0	0	0	0	1	0	0	0	6771	449	16	5	10259	5	GPR98	5	90021381	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	49063071	90021381	90893879	61	95114											
ANKRD32	84250	broad.mit.edu	37	chr5	94024258	94024258	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactggtgtgcttgggtcTggaaagattcaggtgtcaaa	12	11	13	5	0	3	1	2	0	1	1	3	2	3	2	0	4	2	1	0	4	4	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:94024258T>C	ENST00000265140.5	+	17	2588	c.2169T>C	c.(2167-2169)tcT>tcC	p.S723S		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	723										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TGCTTGGGTCTGGAAAGATTC	0.378													34	58					0	0	0	0	C	94024258	T	C	94024258	2	2	492	1	0	0	0	0	0	0	0	1	659	1567	55	5		5	ANKRD32	5	94024258	Silent	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	4002877	94024258	86891002	62	95115											
DTWD2	285605	broad.mit.edu	37	chr5	118176728	118176728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgctgaggcgaatttGggcaccatgctgaagttgaa	9	12	12	8	1	0	3	0	3	0	0	1	4	1	3	2	2	2	4	2	2	3	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:118176728G>T	ENST00000304058.4	-	6	653	c.583C>A	c.(583-585)Caa>Aaa	p.Q195K	DTWD2_ENST00000510708.1_Missense_Mutation_p.Q261K|DTWD2_ENST00000515439.3_Missense_Mutation_p.Q165K			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	261										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AGGCGAATTTGGGCACCATGC	0.383													15	34					2.23348e-06	2.40205e-06	1	0	T	118176728	G	T	118176728	3	4	492	1	0	0	0	0	1	0	0	0	4828	1357	47	4	119	4	DTWD2	5	118176728	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	24152470	118176728	62738532	63	95116											
ADAM19	8728	broad.mit.edu	37	chr5	156929861	156929861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccagatacccgttccCacacctccggcctccataca	9	9	4	19	2	1	1	0	0	1	1	5	1	5	1	7	1	2	1	7	1	2	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:156929861C>A	ENST00000257527.4	-	12	1336	c.1258G>T	c.(1258-1260)Ggg>Tgg	p.G420W	ADAM19_ENST00000394020.1_Missense_Mutation_p.G422W|ADAM19_ENST00000517905.1_Missense_Mutation_p.G420W|ADAM19_ENST00000430702.2_Missense_Mutation_p.G153W	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	420	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCCGTTCCCACACCTCCGG	0.532													35	116					4.11147e-13	4.59518e-13	1	0	A	156929861	C	A	156929861	3	1	492	1	0	0	0	0	1	0	0	0	240	594	21	4	1546	4	ADAM19	5	156929861	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	38753133	156929861	23985399	64	95117											
EBF1	1879	broad.mit.edu	37	chr5	158140013	158140013	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgcctcggagacattcAcggccagttgtccactgaac	9	9	11	12	2	1	3	1	2	0	1	3	4	2	3	3	2	2	1	3	2	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:158140013A>T	ENST00000313708.6	-	13	1616	c.1334T>A	c.(1333-1335)gTg>gAg	p.V445E	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.V437E|EBF1_ENST00000380654.4_Missense_Mutation_p.V414E	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	445					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGACATTCACGGCCAGTTG	0.542			T	HMGA2	lipoma								4	78					0	0	0	0	T	158140013	A	T	158140013	3	4	492	1	0	0	0	0	1	0	0	0	4916	159	6	5	457	5	EBF1	5	158140013	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	1210152	158140013	22775247	65	95118											
GABRP	2568	broad.mit.edu	37	chr5	170235604	170235604	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgttgtttaccctttcagGaaattacactagattggtct	9	17	7	8	0	3	1	1	0	2	1	3	2	3	2	1	2	2	2	1	2	4	7			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:170235604G>A	ENST00000518525.1	+	9	1144	c.679_splice	c.e9-1	p.G227_splice	GABRP_ENST00000265294.4_Splice_Site_p.G227_splice|GABRP_ENST00000519385.1_Splice_Site_p.G227_splice|GABRP_ENST00000519598.1_Splice_Site_p.G227_splice			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	227						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACCCTTTCAGGAAATTACACT	0.403													19	47					0	0	0	0	A	170235604	G	A	170235604	5	1	492	1	0	0	0	0	0	0	1	0	6222	1188	41	2	706	2	GABRP	5	170235604	Splice_Site	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	12095591	170235604	10679656	66	95119											
CDHR2	54825	broad.mit.edu	37	chr5	176012980	176012980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcattaccattgaggaCgtgaatgacaatgcacccta	12	10	7	12	1	1	3	1	3	0	0	2	4	2	4	3	1	2	1	3	1	4	3	rs114350001	by1000genomes	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:176012980C>T	ENST00000510636.1	+	20	3034	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	CDHR2_ENST00000506348.1_Silent_p.D920D|CDHR2_ENST00000261944.5_Silent_p.D920D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	920	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCATTGAGGACGTGAATGACA	0.522													29	94					0	0	0	0	T	176012980	C	T	176012980	2	4	492	1	0	0	0	0	0	0	0	1	3148	535	19	1		1	CDHR2	5	176012980	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	5777376	176012980	4902280	67	95120											
ZNF354C	30832	broad.mit.edu	37	chr5	178505879	178505879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttagacaaatgatagattCgcatgagaaaaccatcagtg	16	10	8	7	1	2	4	1	2	1	3	3	5	2	4	1	0	1	1	1	0	5	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:178505879C>T	ENST00000315475.6	+	5	752	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATGATAGATTCGCATGAGAAA	0.393													26	88					0	0	0	0	T	178505879	C	T	178505879	3	4	492	1	0	0	0	0	1	0	0	0	17961	893	31	1	460	1	ZNF354C	5	178505879	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2492899	178505879	2409381	68	95121											
ELOVL2	54898	broad.mit.edu	37	chr6	10984106	10984106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctgcaggtggctcttGcatatctttcttcattggct	4	18	8	11	0	4	0	1	0	3	0	5	0	5	0	1	3	2	4	1	3	1	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:10984106G>A	ENST00000354666.3	-	8	882	c.799C>T	c.(799-801)Caa>Taa	p.Q267*		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	267					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GGTGGCTCTTGCATATCTTTC	0.353													14	73					0	0	0	0	A	10984106	G	A	10984106	4	1	492	1	0	0	0	0	0	1	0	0	5112	1328	46	4	95	4	ELOVL2	6	10984106	Nonsense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		10984106	160130961	69	95122											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205070	26205070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgtttctggaaaacgtGattcgtgatgctgtgactta	10	14	12	5	2	1	3	0	3	1	0	2	4	1	4	0	2	2	2	0	2	4	3	rs145407769	byFrequency	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:26205070G>A	ENST00000360441.4	+	1	213	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.V66V(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)				TGGAAAACGTGATTCGTGATG	0.567													54	56					0	0	0	0	A	26205070	G	A	26205070	2	1	492	1	0	0	0	0	0	0	0	1	7219	1277	45	2		2	HIST1H4E	6	26205070	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	15220964	26205070	144909997	70	95123											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217505	26217505	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataagcttctaggtcgcgtGaccatcgcgcagggcggtgt	8	9	14	10	5	1	1	0	1	1	0	3	1	1	1	1	3	1	2	1	3	3	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:26217505G>C	ENST00000303910.2	+	1	341	c.303G>C	c.(301-303)gtG>gtC	p.V101V		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	101					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAGGTCGCGTGACCATCGCGC	0.577													39	48					0	0	0	0	C	26217505	G	C	26217505	2	2	492	1	0	0	0	0	0	0	0	1	7182	1277	45	2		2	HIST1H2AE	6	26217505	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	12435	26217505	144897562	71	95124											
STK19	8859	broad.mit.edu	37	chr6	31940148	31940148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttcaggttctcttcccTccattcctaccccttccccg	4	16	3	18	1	2	0	1	0	1	0	7	0	6	0	7	1	1	1	7	1	2	8			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:31940148T>A	ENST00000375331.2	+	2	456	c.290T>A	c.(289-291)cTc>cAc	p.L97H	STK19_ENST00000375333.2_Missense_Mutation_p.L97H	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	97						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						TTCTCTTCCCTCCATTCCTAC	0.572													23	65					0	0	0	0	A	31940148	T	A	31940148	3	1	492	1	0	0	0	0	1	0	0	0	15382	1551	54	5	296	5	STK19	6	31940148	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	5722643	31940148	139174919	72	95125											
TFEB	7942	broad.mit.edu	37	chr6	41653976	41653976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttccagcgcacgtccCtgcagcagcaggccaggcaa	8	6	11	16	2	0	0	0	0	0	0	2	0	2	0	4	2	4	6	4	2	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:41653976C>G	ENST00000597468.1	+	1	13	c.13C>G	c.(13-15)Ctg>Gtg	p.L5V	TFEB_ENST00000373033.1_Splice_Site|TFEB_ENST00000403298.4_Splice_Site|TFEB_ENST00000230323.4_Splice_Site|TFEB_ENST00000358871.2_Splice_Site|TFEB_ENST00000420312.1_Splice_Site																							GCGCACGTCCCTGCAGCAGCA	0.562													31	35					0	0	0	0	G	41653976	C	G	41653976	3	3	492	1	0	0	0	0	1	0	0	0	15895	695	24	4	635	4	TFEB	6	41653976	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	9713828	41653976	129461091	73	95126											
MED20	9477	broad.mit.edu	37	chr6	41884614	41884614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccccaagcatctccaatttCcgggtaaggagctctacggt	9	9	10	13	2	2	0	0	0	2	0	4	1	3	1	4	3	3	3	4	3	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:41884614C>T	ENST00000265350.4	-	2	158	c.78G>A	c.(76-78)cgG>cgA	p.R26R	MED20_ENST00000409312.1_Silent_p.R26R|MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409060.1_Silent_p.R26R	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	26					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCAATTTCCGGGTAAGGA	0.537													18	62					0	0	0	0	T	41884614	C	T	41884614	2	4	492	1	0	0	0	0	0	0	0	1	9507	842	30	2		2	MED20	6	41884614	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	230638	41884614	129230453	74	95127											
MYO6	4646	broad.mit.edu	37	chr6	76558166	76558166	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaattggtttggatgatgaAgaaaagcttgatctcttccg	13	13	10	5	1	1	4	0	3	1	1	3	5	2	5	1	2	1	2	1	2	5	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:76558166A>G	ENST00000369981.3	+	11	1275	c.996A>G	c.(994-996)gaA>gaG	p.E332E	MYO6_ENST00000369975.1_Silent_p.E332E|MYO6_ENST00000369985.4_Silent_p.E332E|MYO6_ENST00000369977.3_Silent_p.E332E			Q9UM54	MYO6_HUMAN	myosin VI	332	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGGATGATGAAGAAAAGCTTG	0.403													41	85					0	0	0	0	G	76558166	A	G	76558166	2	3	492	1	0	0	0	0	0	0	0	1	10151	69	3	5		5	MYO6	6	76558166	Silent	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	34673552	76558166	94556901	75	95128											
GABRR2	2570	broad.mit.edu	37	chr6	89967693	89967693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagcattccacacatgCacgggaactatgggcagcaa	15	6	10	10	1	0	1	0	1	0	0	1	2	1	2	1	2	4	4	1	2	5	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:89967693C>A	ENST00000402938.3	-	9	1227	c.1094G>T	c.(1093-1095)tGc>tTc	p.C365F	GABRR2_ENST00000602399.1_Missense_Mutation_p.C390F			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	390					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TCCACACATGCACGGGAACTA	0.532													6	25					2.7689e-08	3.02351e-08	1	0	A	89967693	C	A	89967693	3	1	492	1	0	0	0	0	1	0	0	0	6225	710	25	4	307	4	GABRR2	6	89967693	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	13409527	89967693	81147374	76	95129											
TMEM200A	114801	broad.mit.edu	37	chr6	130762696	130762696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagctcttgtctcctgggGctgccagaagacagtttggg	7	10	14	10	0	2	2	0	0	2	2	3	3	2	2	2	3	2	3	2	3	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:130762696G>C	ENST00000392429.1	+	2	3507	c.1129G>C	c.(1129-1131)Gct>Cct	p.A377P	TMEM200A_ENST00000545622.1_Missense_Mutation_p.A377P|TMEM200A_ENST00000296978.3_Missense_Mutation_p.A377P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	377						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCTCCTGGGGCTGCCAGAAG	0.517													24	53					0	0	0	0	C	130762696	G	C	130762696	3	2	492	1	0	0	0	0	1	0	0	0	16217	1203	42	4	1131	4	TMEM200A	6	130762696	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	40795003	130762696	40352371	77	95130											
TAAR1	134864	broad.mit.edu	37	chr6	132966643	132966643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtaatatatctcttcagcgCctttgaagtttagctccaga	10	15	7	9	1	2	2	1	1	1	1	4	2	3	2	2	0	2	3	2	0	5	7			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:132966643C>T	ENST00000275216.1	-	1	499	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	167						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CTCTTCAGCGCCTTTGAAGTT	0.373													39	55					0	0	0	0	T	132966643	C	T	132966643	3	4	492	1	0	0	0	0	1	0	0	0	15580	739	26	4	523	4	TAAR1	6	132966643	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2203947	132966643	38148424	78	95131											
SYNE1	23345	broad.mit.edu	37	chr6	152757155	152757155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcagctgcttattttGgggcccaagcggtatctctg	7	13	12	9	1	1	1	0	1	1	0	2	1	1	1	1	3	4	4	1	3	4	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:152757155G>C	ENST00000367255.5	-	33	4832	c.4231C>G	c.(4231-4233)Caa>Gaa	p.Q1411E	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1477E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1401E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1411E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1411					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTATTTTGGGGCCCAAGC	0.403										HNSCC(10;0.0054)			35	66					0	0	0	0	C	152757155	G	C	152757155	3	2	492	1	0	0	0	0	1	0	0	0	15536	1357	47	4	22691	4	SYNE1	6	152757155	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	19790512	152757155	18357912	79	95132											
DNAH11	8701	broad.mit.edu	37	chr7	21744171	21744171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgccccggaggaggaaGctgcactttgaacagatggt	10	8	15	8	1	0	2	0	1	0	1	0	6	0	5	2	4	4	2	2	4	2	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:21744171G>A	ENST00000328843.6	+	39	6445	c.6414G>A	c.(6412-6414)aaG>aaA	p.K2138K	DNAH11_ENST00000409508.3_Silent_p.K2131K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2138					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAGGAGGAAGCTGCACTTTG	0.527									Kartagener syndrome				14	29					0	0	0	0	A	21744171	G	A	21744171	2	1	492	1	0	0	0	0	0	0	0	1	4636	962	34	4		4	DNAH11	7	21744171	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		21744171	137394492	80	95133											
SRRM3	222183	broad.mit.edu	37	chr7	75894094	75894094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctgcagatctcgaagctCcaagtgcaaaagaaaagaga	16	7	9	9	1	2	3	0	0	2	3	5	5	3	3	1	0	3	3	1	0	6	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:75894094C>A	ENST00000388802.4	+	9	895	c.686C>A	c.(685-687)tCc>tAc	p.S229Y	SRRM3_ENST00000326382.8_Missense_Mutation_p.S229Y					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCTCGAAGCTCCAAGTGCAAA	0.572													11	74					9.05144e-12	1.00768e-11	1	0	A	75894094	C	A	75894094	3	1	492	1	0	0	0	0	1	0	0	0	15260	855	30	2	716	2	SRRM3	7	75894094	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	54149923	75894094	83244569	81	95134											
SRCRB4D	136853	broad.mit.edu	37	chr7	76021343	76021343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcctgctggacttgcagtCccagctcctctgggcctggt	4	11	11	15	0	1	0	0	0	1	0	4	1	4	1	4	3	3	3	4	3	0	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:76021343C>T	ENST00000275560.3	-	10	1696	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	450						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GACTTGCAGTCCCAGCTCCTC	0.607													3	12					0	0	0	0	T	76021343	C	T	76021343	3	4	492	1	0	0	0	0	1	0	0	0	15227	855	30	2	386	2	SRCRB4D	7	76021343	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	127249	76021343	83117320	82	95135											
HGF	3082	broad.mit.edu	37	chr7	81339548	81339548	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcgttttggcacaagAtattacgggatctgaaacag	11	14	10	6	2	1	2	0	1	1	1	2	3	1	3	0	2	2	3	0	2	4	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:81339548A>T	ENST00000222390.5	-	13	1682	c.1456T>A	c.(1456-1458)Tct>Act	p.S486T	HGF_ENST00000457544.2_Missense_Mutation_p.S481T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	486					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTGGCACAAGATATTACGGGA	0.313													61	87					0	0	0	0	T	81339548	A	T	81339548	3	4	492	1	0	0	0	0	1	0	0	0	7135	333	12	5	754	5	HGF	7	81339548	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	5318205	81339548	77799115	83	95136											
GRM3	2913	broad.mit.edu	37	chr7	86415985	86415985	+	Missense_Mutation	SNP	G	G	A																															cagccgccagccgcgccaatGcctccttcacctgggtggcc																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:86415985G>A	ENST00000361669.2	+	3	1976	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	GRM3_ENST00000439827.1_Missense_Mutation_p.A293T|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A291T|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.A165T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	293					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCGCGCCAATGCCTCCTTCAC	0.672													49	92					0	0	0	0	A	86415985	G	A	86415985	3	1	492	1	0	0	0	0	1	0	0	0	6848	1319	46	4	883	4	GRM3	7	86415985	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	5076437	86415985	72722678	84	95137	1133	2									
GRM3	2913	broad.mit.edu	37	chr7	86415986	86415986	+	Missense_Mutation	SNP	C	C	A																															agccgccagccgcgccaatgCctccttcacctgggtggcca																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:86415986C>A	ENST00000361669.2	+	3	1977	c.878C>A	c.(877-879)gCc>gAc	p.A293D	GRM3_ENST00000439827.1_Missense_Mutation_p.A293D|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A291D|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.A165D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	293					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGCGCCAATGCCTCCTTCACC	0.672													47	92					1.83081e-24	2.12106e-24	1	0	A	86415986	C	A	86415986	3	1	492	1	0	0	0	0	1	0	0	0	6848	739	26	4	884	4	GRM3	7	86415986	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	1	86415986	72722677	85	95138	1133	2									
RUNDC3B	154661	broad.mit.edu	37	chr7	87399965	87399965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtagcgaaagcagtaCtccagagaatgtcggacctc	12	7	12	10	2	0	1	0	0	0	1	3	4	1	2	2	2	3	3	2	2	4	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:87399965C>T	ENST00000338056.3	+	8	1160	c.749C>T	c.(748-750)aCt>aTt	p.T250I	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T233I|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T233I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	250										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAAAGCAGTACTCCAGAGAAT	0.413													24	34					0	0	0	0	T	87399965	C	T	87399965	3	4	492	1	0	0	0	0	1	0	0	0	13830	565	20	4	779	4	RUNDC3B	7	87399965	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	983979	87399965	71738698	86	95139											
STEAP4	79689	broad.mit.edu	37	chr7	87912155	87912155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagaatggcagcaataacaCcagggaggtaaaccaaagca	18	4	11	8	0	0	1	0	0	0	1	0	2	0	2	2	3	4	5	2	3	7	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:87912155C>T	ENST00000380079.4	-	3	886	c.785G>A	c.(784-786)gGt>gAt	p.G262D	STEAP4_ENST00000414498.1_Missense_Mutation_p.G262D|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	262	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AGCAATAACACCAGGGAGGTA	0.433													51	131					0	0	0	0	T	87912155	C	T	87912155	3	4	492	1	0	0	0	0	1	0	0	0	15370	507	18	4	606	4	STEAP4	7	87912155	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	512190	87912155	71226508	87	95140											
ZNF804B	219578	broad.mit.edu	37	chr7	88963958	88963958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaggaaatataatttGgactacagtgattctgagcc	13	12	9	7	0	1	3	0	2	1	1	2	5	2	5	2	2	2	0	2	2	4	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:88963958G>A	ENST00000333190.4	+	4	2271	c.1662G>A	c.(1660-1662)ttG>ttA	p.L554L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	554						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATATAATTTGGACTACAGTG	0.348										HNSCC(36;0.09)			35	104					0	0	0	0	A	88963958	G	A	88963958	2	1	492	1	0	0	0	0	0	0	0	1	18264	1339	47	4		4	ZNF804B	7	88963958	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	1051803	88963958	70174705	88	95141											
SAMD9L	219285	broad.mit.edu	37	chr7	92762251	92762251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctaatatattcaatgCaatttgacatttatccaagt	13	17	3	8	0	3	1	1	1	2	0	4	1	4	1	1	0	1	1	1	0	7	8			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:92762251C>T	ENST00000318238.4	-	5	4250	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1012T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1012T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1012										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATATTCAATGCAATTTGACAT	0.363													77	115					0	0	0	0	T	92762251	C	T	92762251	3	4	492	1	0	0	0	0	1	0	0	0	13912	710	25	4	1724	4	SAMD9L	7	92762251	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	3798293	92762251	66376412	89	95142											
CASD1	64921	broad.mit.edu	37	chr7	94176486	94176486	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttttggcatattctcAggtttgtacaatcttttcag	8	20	7	6	0	3	0	2	0	2	0	4	0	3	0	0	2	1	4	0	2	3	9			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:94176486A>T	ENST00000297273.4	+	13	1999	c.1713_splice	c.e13+1	p.Q571_splice		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	571						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATATTCTCAGGTTTGTACA	0.279													54	95					0	0	0	0	T	94176486	A	T	94176486	5	4	492	1	0	0	0	0	0	0	1	0	2689	202	7	5	1762	5	CASD1	7	94176486	Splice_Site	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	1414235	94176486	64962177	90	95143											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539795	94539795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcttctgtttctgaacgaAttagtagatttgacactatg	11	16	8	6	1	3	3	0	2	3	1	3	4	3	3	0	0	1	2	0	0	5	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:94539795A>G	ENST00000289495.5	+	1	586	c.370A>G	c.(370-372)Att>Gtt	p.I124V	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.I124V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.I124V	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	124	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTGAACGAATTAGTAGATT	0.403										HNSCC(28;0.073)			25	199					0	0	0	0	G	94539795	A	G	94539795	3	3	492	1	0	0	0	0	1	0	0	0	12454	101	4	5	372	5	PPP1R9A	7	94539795	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	363309	94539795	64598868	91	95144											
ARPC1B	10095	broad.mit.edu	37	chr7	98988690	98988690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaagccacgacagcacCgtctgcctggctgatgccga	8	7	13	13	3	1	1	0	1	1	0	1	3	1	1	4	2	4	3	4	2	1	1	rs138310411		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:98988690C>T	ENST00000451682.1	+	8	984	c.675C>T	c.(673-675)acC>acT	p.T225T	ARPC1B_ENST00000252725.5_Silent_p.T225T			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	225					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			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)			ACGACAGCACCGTCTGCCTGG	0.622													22	32					0	0	0	0	T	98988690	C	T	98988690	2	4	492	1	0	0	0	0	0	0	0	1	974	639	23	1		1	ARPC1B	7	98988690	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	4448895	98988690	60149973	92	95145											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs149757187		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													4	113					0	0	0	0	G	114269973	A	G	114269973	2	3	492	1	0	0	0	0	0	0	0	1	6074	40	2	5		5	FOXP2	7	114269973	Silent	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	15281283	114269973	44868690	93	95146											
PLXNA4	91584	broad.mit.edu	37	chr7	131830041	131830041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatccacaaacttctgcaGtgtgccctggagaggcagga	10	8	12	11	0	2	1	1	0	1	1	3	3	3	2	2	3	3	2	2	3	1	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:131830041G>T	ENST00000359827.3	-	29	6024	c.5062C>A	c.(5062-5064)Ctg>Atg	p.L1688M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688M			Q9HCM2	PLXA4_HUMAN	plexin A4	1688						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACTTCTGCAGTGTGCCCTGG	0.547													30	60					3.99451e-17	4.5356e-17	1	0	T	131830041	G	T	131830041	3	4	492	1	0	0	0	0	1	0	0	0	12194	1020	36	4	638	4	PLXNA4	7	131830041	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	17560068	131830041	27308622	94	95147											
PLXNA4	91584	broad.mit.edu	37	chr7	132193289	132193289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtcctctcatccaccAccaggtgattgaaaccctcg	8	10	7	16	1	1	2	1	2	1	0	6	2	4	2	6	1	1	0	6	1	1	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:132193289A>G	ENST00000359827.3	-	2	1126	c.164T>C	c.(163-165)gTg>gCg	p.V55A	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V55A|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V55A|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V55A			Q9HCM2	PLXA4_HUMAN	plexin A4	55	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCATCCACCACCAGGTGATT	0.587													12	122					0	0	0	0	G	132193289	A	G	132193289	3	3	492	1	0	0	0	0	1	0	0	0	12194	159	6	5	5958	5	PLXNA4	7	132193289	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	363248	132193289	26945374	95	95148											
EXOC4	60412	broad.mit.edu	37	chr7	133041131	133041131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggaagatttagaattggatCcagaggaaaacagcaccctg	16	7	11	7	0	0	3	0	0	0	3	1	6	1	6	2	3	2	1	2	3	5	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:133041131C>G	ENST00000253861.4	+	6	840	c.811C>G	c.(811-813)Cca>Gca	p.P271A	EXOC4_ENST00000539845.1_Missense_Mutation_p.P170A|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	271					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGAATTGGATCCAGAGGAAAA	0.398													7	170					0	0	0	0	G	133041131	C	G	133041131	3	3	492	1	0	0	0	0	1	0	0	0	5343	855	30	2	833	2	EXOC4	7	133041131	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	847842	133041131	26097532	96	95149											
TAS2R3	50831	broad.mit.edu	37	chr7	141464575	141464575	+	Missense_Mutation	SNP	C	C	T																															ctactctttgctcatcttctCcctggggaggcacacacggc																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:141464575C>T	ENST00000247879.2	+	1	679	c.617C>T	c.(616-618)tCc>tTc	p.S206F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	206					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CTCATCTTCTCCCTGGGGAGG	0.517													36	126					0	0	0	0	T	141464575	C	T	141464575	3	4	492	1	0	0	0	0	1	0	0	0	15663	855	30	2	619	2	TAS2R3	7	141464575	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	8423444	141464575	17674088	97	95150	1134	2									
TAS2R3	50831	broad.mit.edu	37	chr7	141464576	141464576	+	Silent	SNP	C	C	T																															tactctttgctcatcttctcCctggggaggcacacacggca																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:141464576C>T	ENST00000247879.2	+	1	680	c.618C>T	c.(616-618)tcC>tcT	p.S206S	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	206					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TCATCTTCTCCCTGGGGAGGC	0.517													36	126					0	0	0	0	T	141464576	C	T	141464576	2	4	492	1	0	0	0	0	0	0	0	1	15663	610	22	4		4	TAS2R3	7	141464576	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	1	141464576	17674087	98	95151	1134	2									
TAS2R41	259287	broad.mit.edu	37	chr7	143175140	143175140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctcccgcttctgcctgCagttggttgggacggtgcac	3	11	14	13	2	1	0	0	0	1	0	2	1	2	1	3	3	4	5	3	3	0	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:143175140C>A	ENST00000408916.1	+	1	175	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	59					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTTCTGCCTGCAGTTGGTTGG	0.567													76	125					1.36236e-49	1.6314e-49	1	0	A	143175140	C	A	143175140	3	1	492	1	0	0	0	0	1	0	0	0	15670	711	25	4	177	4	TAS2R41	7	143175140	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	1710564	143175140	15963523	99	95152											
ATG9B	285973	broad.mit.edu	37	chr7	150713811	150713811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attcgggaaatggaggcaagGaggctggctgtggccgcagc	9	6	18	8	2	0	0	0	0	0	0	1	3	0	3	1	7	1	4	1	7	2	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:150713811G>A	ENST00000377974.2	-	11	2460	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L	ATG9B_ENST00000444312.1_Silent_p.L281L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	796					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGGCAAGGAGGCTGGCTG	0.652													11	47					0	0	0	0	A	150713811	G	A	150713811	2	1	492	1	0	0	0	0	0	0	0	1	1107	1174	41	2		2	ATG9B	7	150713811	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	7538671	150713811	8424852	100	95153											
HTR5A	3361	broad.mit.edu	37	chr7	154862767	154862767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctttctggtggcggCgacgttcgcctggaacctgc	3	10	16	12	4	1	0	0	0	1	0	2	2	1	1	2	5	2	3	2	5	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:154862767C>T	ENST00000287907.2	+	1	734	c.158C>T	c.(157-159)gCg>gTg	p.A53V	AC093726.4_ENST00000395731.2_Missense_Mutation_p.A83T|AC093726.4_ENST00000543018.1_Missense_Mutation_p.A83T|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	53						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGGTGGCGGCGACGTTCGCC	0.642													16	79					0	0	0	0	T	154862767	C	T	154862767	3	4	492	1	0	0	0	0	1	0	0	0	7503	768	27	1	160	1	HTR5A	7	154862767	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	4148956	154862767	4275896	101	95154											
MTMR7	9108	broad.mit.edu	37	chr8	17206556	17206556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtgccgtggccgatttgGgaacgtacagttcagtagga	8	11	15	7	3	1	0	1	0	0	0	1	3	1	2	2	3	3	3	2	3	3	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:17206556G>C	ENST00000180173.5	-	5	537	c.503C>G	c.(502-504)cCc>cGc	p.P168R	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.P168R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	168	Myotubularin phosphatase.						protein tyrosine phosphatase activity			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)		GGCCGATTTGGGAACGTACAG	0.453													38	102					0	0	0	0	C	17206556	G	C	17206556	3	2	492	1	0	0	0	0	1	0	0	0	10018	1232	43	4	1519	4	MTMR7	8	17206556	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		17206556	129157466	102	95155											
RBPMS	11030	broad.mit.edu	37	chr8	30332300	30332300	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatttatttttccaggtccgGaccctatttgtcagtggcct	7	16	8	10	1	1	0	1	0	0	0	3	1	3	1	4	3	0	0	4	3	3	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:30332300G>C	ENST00000320203.4	+	2	654	c.72G>C	c.(70-72)cgG>cgC	p.R24R	RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000287771.5_Silent_p.R24R|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.R24R|RBPMS_ENST00000397323.4_Silent_p.R24R|RBPMS_ENST00000538486.1_Silent_p.R24R|RBPMS_ENST00000339877.4_Silent_p.R24R|RBPMS_ENST00000520191.1_5'UTR	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	24	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	p.R24R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCCAGGTCCGGACCCTATTTG	0.388													112	60					0	0	0	0	C	30332300	G	C	30332300	2	2	492	1	0	0	0	0	0	0	0	1	13245	1161	41	2		2	RBPMS	8	30332300	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	13125744	30332300	116031722	103	95156											
POTEA	340441	broad.mit.edu	37	chr8	43147662	43147662	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctccaaagctggctgcctCccctatgaagaagccctttg	8	11	8	14	0	1	2	0	1	1	1	3	2	2	2	5	1	3	2	5	1	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:43147662C>T	ENST00000522175.2	+	0	37							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGGCTGCCTCCCCTATGAAG	0.562													25	48					0	0	0	0	T	43147662	C	T	43147662	1	4	492	0	1	0	0	0	0	0	0	0	12333	855	30	2		2	POTEA	8	43147662	RNA	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	12815362	43147662	103216360	104	95157											
CYP7B1	9420	broad.mit.edu	37	chr8	65528525	65528525	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatatagttgtaaatgtGatctcaaatattattgagct	14	16	6	5	0	1	2	1	2	1	0	2	2	1	2	1	0	1	3	1	0	8	8			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:65528525G>T	ENST00000310193.3	-	3	746	c.573C>A	c.(571-573)atC>atA	p.I191I		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	191					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTGTAAATGTGATCTCAAATA	0.323													8	67					0.000442599	0.000453744	1	0	T	65528525	G	T	65528525	2	4	492	1	0	0	0	0	0	0	0	1	4229	1280	45	2		2	CYP7B1	8	65528525	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	22380863	65528525	80835497	105	95158											
TRAM1	23471	broad.mit.edu	37	chr8	71508497	71508497	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctgctaaaaatgacttaCgtcatcaggttatggggata	12	11	12	6	1	2	1	2	1	0	0	2	2	2	2	0	4	2	3	0	4	6	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:71508497C>T	ENST00000521425.1	-	5	1264		c.e5+1		TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000262213.2_Splice_Site|TRAM1_ENST00000536748.1_Splice_Site			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAATGACTTACGTCATCAGGT	0.368													79	107					0	0	0	0	T	71508497	C	T	71508497	5	4	492	1	0	0	0	0	0	0	1	0	16546	550	19	1	666	1	TRAM1	8	71508497	Splice_Site	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	5979972	71508497	74855525	106	95159											
XKR9	389668	broad.mit.edu	37	chr8	71619234	71619234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacagcaatactagtaacttCgtggaagaacaaattgatct	16	10	8	7	1	1	2	0	1	1	1	2	4	1	3	0	1	4	2	0	1	7	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:71619234C>T	ENST00000408926.3	+	4	873	c.339C>T	c.(337-339)ttC>ttT	p.F113F	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.F113F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	113						integral to membrane				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)			CTAGTAACTTCGTGGAAGAAC	0.358													23	101					0	0	0	0	T	71619234	C	T	71619234	2	4	492	1	0	0	0	0	0	0	0	1	17534	883	31	1		1	XKR9	8	71619234	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	110737	71619234	74744788	107	95160											
CPSF1	29894	broad.mit.edu	37	chr8	145622721	145622721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatggtgccattctccCgcaccagcaggcaccagtgg	7	7	10	17	1	1	0	0	0	1	0	3	0	2	0	6	3	2	3	6	3	0	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:145622721C>T	ENST00000349769.3	-	22	2460	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	789					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.R789L(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)			GCCATTCTCCCGCACCAGCAG	0.672													15	19					0	0	0	0	T	145622721	C	T	145622721	3	4	492	1	0	0	0	0	1	0	0	0	3854	652	23	1	2033	1	CPSF1	8	145622721	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	74003487	145622721	741301	108	95161											
KIAA2026	158358	broad.mit.edu	37	chr9	5921802	5921802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactagaacaaatagaggaCttcaagggagaagagggcat	17	6	13	5	0	1	4	1	0	0	4	1	6	1	5	0	3	2	2	0	3	7	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:5921802C>G	ENST00000399933.3	-	8	4193	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N	KIAA2026_ENST00000381461.2_Missense_Mutation_p.K1368N	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1398	Ser-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAATAGAGGACTTCAAGGGAG	0.403													37	54					0	0	0	0	G	5921802	C	G	5921802	3	3	492	1	0	0	0	0	1	0	0	0	8321	564	20	4	2121	4	KIAA2026	9	5921802	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08		5921802	135291629	109	95162											
PSIP1	11168	broad.mit.edu	37	chr9	15506632	15506632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctccatcaggaacttcgtCtacctaaaagaaaagtgaga	16	8	8	9	1	2	2	1	1	1	2	4	4	3	3	2	1	3	1	2	1	6	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:15506632C>G	ENST00000380733.4	-	3	419	c.76G>C	c.(76-78)Gac>Cac	p.D26H	PSIP1_ENST00000484265.1_5'UTR|PSIP1_ENST00000380738.4_Missense_Mutation_p.D26H|PSIP1_ENST00000380716.4_Missense_Mutation_p.D26H|PSIP1_ENST00000397519.2_Missense_Mutation_p.D26H|PSIP1_ENST00000380715.1_Missense_Mutation_p.D26H			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	26	PWWP.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGAACTTCGTCTACCTAAAAG	0.348													29	51					0	0	0	0	G	15506632	C	G	15506632	3	3	492	1	0	0	0	0	1	0	0	0	12742	913	32	2	1601	2	PSIP1	9	15506632	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	9584830	15506632	125706799	110	95163											
BNC2	54796	broad.mit.edu	37	chr9	16435982	16435982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgctcatccccttccatgGattcctcgcccagtttgggc	4	13	9	15	1	1	0	1	0	0	0	5	1	4	1	5	2	1	2	5	2	0	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:16435982G>C	ENST00000380672.4	-	6	2267	c.2210C>G	c.(2209-2211)tCc>tGc	p.S737C	BNC2_ENST00000380667.2_Missense_Mutation_p.S670C|BNC2_ENST00000545497.1_Missense_Mutation_p.S642C|BNC2_ENST00000380666.2_Missense_Mutation_p.S737C	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCCTTCCATGGATTCCTCGCC	0.522													5	74					0	0	0	0	C	16435982	G	C	16435982	3	2	492	1	0	0	0	0	1	0	0	0	1480	1174	41	2	1097	2	BNC2	9	16435982	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	929350	16435982	124777449	111	95164											
TOPORS	10210	broad.mit.edu	37	chr9	32542340	32542340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagactgtctagaataatgaGctctggacagagtcctcctc	12	10	9	10	0	2	4	0	1	2	3	5	5	4	5	2	1	1	1	2	1	4	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:32542340G>C	ENST00000360538.2	-	3	2299	c.2183C>G	c.(2182-2184)gCt>gGt	p.A728G	TOPORS_ENST00000379858.1_Missense_Mutation_p.A663G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	728	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGAATAATGAGCTCTGGACAG	0.378													49	104					0	0	0	0	C	32542340	G	C	32542340	3	2	492	1	0	0	0	0	1	0	0	0	16465	971	34	4	958	4	TOPORS	9	32542340	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	16106358	32542340	108671091	112	95165											
FAM189A2	9413	broad.mit.edu	37	chr9	72003134	72003134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagactggatctggctgCagtgactctgaggagaggct	10	8	16	7	0	2	4	0	2	2	2	2	7	2	5	0	5	1	3	0	5	1	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:72003134C>T	ENST00000257515.8	+	10	1337	c.917C>T	c.(916-918)gCa>gTa	p.A306V	FAM189A2_ENST00000377216.3_Missense_Mutation_p.A93V|FAM189A2_ENST00000303068.7_Missense_Mutation_p.A141V|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A306V	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	306						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GATCTGGCTGCAGTGACTCTG	0.532													17	35					0	0	0	0	T	72003134	C	T	72003134	3	4	492	1	0	0	0	0	1	0	0	0	5559	710	25	4	951	4	FAM189A2	9	72003134	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	39460794	72003134	69210297	113	95166											
FOXB2	442425	broad.mit.edu	37	chr9	79634747	79634747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacacagcgctggcagaaCagcctgcgccacaacctctc	11	4	8	18	2	1	1	0	0	1	1	2	1	1	1	3	1	5	2	3	1	2	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:79634747C>A	ENST00000376708.1	+	1	177	c.177C>A	c.(175-177)aaC>aaA	p.N59K		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	59					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCTGGCAGAACAGCCTGCGCC	0.612													27	14					1.5548e-18	1.78677e-18	1	0	A	79634747	C	A	79634747	3	1	492	1	0	0	0	0	1	0	0	0	6038	477	17	4	179	4	FOXB2	9	79634747	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	7631613	79634747	61578684	114	95167											
SEMA4D	10507	broad.mit.edu	37	chr9	92008515	92008515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgtgtgctgggtcaaagGgacatcttcctttgccatct	7	13	11	10	0	3	0	1	0	2	0	4	1	4	1	2	2	3	2	2	2	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:92008515G>A	ENST00000450295.1	-	7	1246	c.470C>T	c.(469-471)cCc>cTc	p.P157L	SEMA4D_ENST00000420987.1_Missense_Mutation_p.P157L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000343780.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P157L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	157	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGGTCAAAGGGACATCTTCC	0.428													31	66					0	0	0	0	A	92008515	G	A	92008515	3	1	492	1	0	0	0	0	1	0	0	0	14121	1232	43	4	2728	4	SEMA4D	9	92008515	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	12373768	92008515	49204916	115	95168											
IKBKAP	8518	broad.mit.edu	37	chr9	111681115	111681115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagccagggctggtcccagtCctgccacaggctcactggtt	7	8	12	14	0	1	0	1	0	0	0	3	0	3	0	4	4	2	3	4	4	1	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:111681115C>T	ENST00000374647.5	-	8	1023	c.716G>A	c.(715-717)gGa>gAa	p.G239E	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	239					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.G239E(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGTCCCAGTCCTGCCACAGG	0.522													12	71					0	0	0	0	T	111681115	C	T	111681115	3	4	492	1	0	0	0	0	1	0	0	0	7663	855	30	2	3402	2	IKBKAP	9	111681115	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	19672600	111681115	29532316	116	95169											
C9orf91	203197	broad.mit.edu	37	chr9	117399306	117399306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgacctggagaactgtgtgCagtttttgtctgatcatgtt	7	16	11	7	1	2	2	1	1	1	1	3	4	2	2	1	1	2	3	1	1	1	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:117399306C>A	ENST00000374049.4	+	7	1062	c.625C>A	c.(625-627)Cag>Aag	p.Q209K	C9orf91_ENST00000288502.4_Missense_Mutation_p.Q208K	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	208						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAACTGTGTGCAGTTTTTGTC	0.468													32	84					6.00712e-18	6.84812e-18	1	0	A	117399306	C	A	117399306	3	1	492	1	0	0	0	0	1	0	0	0	2530	711	25	4	644	4	C9orf91	9	117399306	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	5718191	117399306	23814125	117	95170											
PTGS1	5742	broad.mit.edu	37	chr9	125149013	125149013	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgccagattgctggccgggTaagccccagaggagtgctgg	7	7	16	11	2	0	2	0	0	0	2	1	3	0	3	4	4	3	3	4	4	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:125149013T>C	ENST00000362012.2	+	9	1301		c.e9+2		PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000540753.1_Intron	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)						cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GCTGGCCGGGTAAGCCCcaga	0.562													10	35					0	0	0	0	C	125149013	T	C	125149013	5	2	492	1	0	0	0	0	0	0	1	0	12835	1652	57	5	1332	5	PTGS1	9	125149013	Splice_Site	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	7749707	125149013	16064418	118	95171											
GOLGA1	2800	broad.mit.edu	37	chr9	127674281	127674281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatgtgtgataacgtcttCtttctcttgagtttcagcag	9	16	8	8	1	4	2	1	2	3	0	5	2	4	2	0	0	2	2	0	0	2	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:127674281C>G	ENST00000373555.4	-	11	1201	c.868G>C	c.(868-870)Gaa>Caa	p.E290Q		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	290						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ATAACGTCTTCTTTCTCTTGA	0.443													30	81					0	0	0	0	G	127674281	C	G	127674281	3	3	492	1	0	0	0	0	1	0	0	0	6602	922	32	2	1487	2	GOLGA1	9	127674281	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2525268	127674281	13539150	119	95172											
EHMT1	79813	broad.mit.edu	37	chr9	140637884	140637884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacgaagaatgggaacCtatagcctggttcctaagaa	18	7	9	7	1	0	2	0	0	0	2	1	4	1	3	3	2	3	1	3	2	10	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:140637884C>T	ENST00000460843.1	+	5	912	c.885C>T	c.(883-885)acC>acT	p.T295T	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.T264T|EHMT1_ENST00000462484.1_Silent_p.T295T	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	295					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAATGGGAACCTATAGCCTGG	0.383													21	66					0	0	0	0	T	140637884	C	T	140637884	2	4	492	1	0	0	0	0	0	0	0	1	5019	668	24	4		4	EHMT1	9	140637884	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	12963603	140637884	575547	120	95173											
LRRTM3	347731	broad.mit.edu	37	chr10	68687004	68687004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttaatggaatacgcagActcaaagagctgattcttag	13	12	9	7	1	2	3	1	1	1	2	2	4	2	4	0	1	2	3	0	1	5	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:68687004A>C	ENST00000361320.4	+	2	908	c.330A>C	c.(328-330)agA>agC	p.R110S	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	110						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GAATACGCAGACTCAAAGAGC	0.368													25	188					0	0	0	0	C	68687004	A	C	68687004	3	2	492	1	0	0	0	0	1	0	0	0	9105	272	10	5	336	5	LRRTM3	10	68687004	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08		68687004	66847743	121	95174											
RPP30	10556	broad.mit.edu	37	chr10	92645569	92645569	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttttcttctttacagAttgcttgcacacatttagat	9	21	4	7	0	2	2	0	0	2	2	2	2	2	2	0	0	3	2	0	0	3	11			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:92645569A>G	ENST00000413330.1	+	6	378	c.342_splice	c.e6-1	p.I115_splice	RPP30_ENST00000371703.3_Splice_Site_p.I115_splice	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	115					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TTCTTTACAGATTGCTTGCAC	0.353													17	41					0	0	0	0	G	92645569	A	G	92645569	5	3	492	1	0	0	0	0	0	0	1	0	13697	347	12	5	365	5	RPP30	10	92645569	Splice_Site	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	23958565	92645569	42889178	122	95175											
ADAM8	101	broad.mit.edu	37	chr10	135086790	135086790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagacggctgccgtccGgggtcccaggaggctgccca	6	5	15	15	3	0	2	0	1	0	1	2	3	2	3	5	5	2	2	5	5	1	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:135086790G>A	ENST00000445355.3	-	6	591	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ADAM8_ENST00000415217.3_Missense_Mutation_p.R181W|ADAM8_ENST00000485491.2_Missense_Mutation_p.R142W	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	142					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCTGCCGTCCGGGGTCCCAGG	0.711													8	6					0	0	0	0	A	135086790	G	A	135086790	3	1	492	1	0	0	0	0	1	0	0	0	252	1115	39	1	1923	1	ADAM8	10	135086790	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	42441221	135086790	447957	123	95176											
TUBGCP2	10844	broad.mit.edu	37	chr10	135113043	135113043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgatgctggtggtactgCtgcccacagcagcggctgca	6	9	14	12	2	0	1	0	1	0	0	0	1	0	1	1	3	7	7	1	3	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:135113043C>T	ENST00000368563.2	-	4	700	c.344G>A	c.(343-345)aGc>aAc	p.S115N	TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S115N|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.S115N	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	115					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTGGTACTGCTGCCCACAGC	0.552													41	37					0	0	0	0	T	135113043	C	T	135113043	3	4	492	1	0	0	0	0	1	0	0	0	16862	797	28	4	2424	4	TUBGCP2	10	135113043	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	26253	135113043	421704	124	95177											
OR51M1	390059	broad.mit.edu	37	chr11	5411022	5411022	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgctcctcatgatgtccTttgaccgccttgtggccatc	5	13	9	14	1	1	2	1	2	0	0	4	2	3	2	5	1	1	1	5	1	0	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:5411022T>C	ENST00000328611.3	+	1	416	c.394T>C	c.(394-396)Ttt>Ctt	p.F132L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	132						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGTCCTTTGACCGCCT	0.502													81	171					0	0	0	0	C	5411022	T	C	5411022	3	2	492	1	0	0	0	0	1	0	0	0	11174	1609	56	5	396	5	OR51M1	11	5411022	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08		5411022	129595494	125	95178											
SOX6	55553	broad.mit.edu	37	chr11	16071484	16071484	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggctgtgctgctgcttcatCctacaagagtttaacgtaaa	11	12	9	9	1	1	1	1	0	0	1	2	1	2	1	1	1	5	6	1	1	5	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:16071484C>G	ENST00000352083.6	-	11	1329	c.1251_splice	c.e11-1	p.D418_splice	SOX6_ENST00000396356.3_Splice_Site_p.D418_splice|SOX6_ENST00000527619.1_Splice_Site_p.D380_splice|SOX6_ENST00000316399.6_Splice_Site_p.D418_splice|SOX6_ENST00000528429.1_Splice_Site_p.D418_splice|SOX6_ENST00000528252.1_Splice_Site_p.D377_splice			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	418					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCTGCTTCATCCTACAAGAGT	0.443													10	138					0	0	0	0	G	16071484	C	G	16071484	5	3	492	1	0	0	0	0	0	0	1	0	15043	869	30	2	1300	2	SOX6	11	16071484	Splice_Site	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	10660462	16071484	118935032	126	95179											
LRRC4C	57689	broad.mit.edu	37	chr11	40136232	40136232	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcactgcagccatgagTgtgatggccacaaaacaccc	13	6	9	13	0	1	2	1	2	0	0	1	2	1	2	3	1	4	2	3	1	2	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:40136232T>A	ENST00000278198.2	-	2	3574	c.1611A>T	c.(1609-1611)acA>acT	p.T537T	LRRC4C_ENST00000530763.1_Silent_p.T537T|LRRC4C_ENST00000527150.1_Silent_p.T537T|LRRC4C_ENST00000528697.1_Silent_p.T537T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	537					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAGCCATGAGTGTGATGGCCA	0.453													8	85					0	0	0	0	A	40136232	T	A	40136232	2	1	492	1	0	0	0	0	0	0	0	1	9072	1683	59	5		5	LRRC4C	11	40136232	Silent	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	24064748	40136232	94870284	127	95180											
LRRC4C	57689	broad.mit.edu	37	chr11	40137329	40137329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtctagtcggcgcaaagaagGaattctgttaaaagcataag	15	9	11	6	2	2	1	0	0	2	1	3	2	2	2	0	2	1	3	0	2	7	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:40137329G>C	ENST00000278198.2	-	2	2477	c.514C>G	c.(514-516)Cct>Gct	p.P172A	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	172					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCAAAGAAGGAATTCTGTTA	0.428													28	73					0	0	0	0	C	40137329	G	C	40137329	3	2	492	1	0	0	0	0	1	0	0	0	9072	1174	41	2	1412	2	LRRC4C	11	40137329	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	1097	40137329	94869187	128	95181											
ALX4	60529	broad.mit.edu	37	chr11	44286580	44286580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgtgactgccagcccCagacacactcaggaagtcgg	10	4	11	16	2	1	2	1	1	0	1	2	3	1	3	4	2	2	0	4	2	1	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:44286580C>A	ENST00000329255.3	-	4	1163	c.1060G>T	c.(1060-1062)Ggg>Tgg	p.G354W		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	354					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGCCAGCCCCAGACACACTC	0.682													24	39					8.24728e-16	9.29042e-16	1	0	A	44286580	C	A	44286580	3	1	492	1	0	0	0	0	1	0	0	0	558	594	21	4	179	4	ALX4	11	44286580	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	4149251	44286580	90719936	129	95182											
MADD	8567	broad.mit.edu	37	chr11	47346191	47346191	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaagaaggaccaatgtccaAgcccccagtacttccccagc	12	6	8	15	0	0	1	0	0	0	1	2	2	2	2	6	1	3	2	6	1	5	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:47346191A>C	ENST00000405573.2	+	13	1428	c.1215A>C	c.(1213-1215)caA>caC	p.Q405H	MADD_ENST00000395336.3_Intron|MADD_ENST00000311027.5_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000407859.3_Intron			Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	0					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCAATGTCCAAGCCCCCAGTA	0.582													7	5					0	0	0	0	C	47346191	A	C	47346191	3	2	492	1	0	0	0	0	1	0	0	0	9217	87	3	5		5	MADD	11	47346191	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	3059611	47346191	87660325	130	95183											
OR8H2	390151	broad.mit.edu	37	chr11	55872781	55872781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttagcgaacttactgaCttccaactatatttccttta	12	15	3	11	1	0	1	0	1	0	0	2	2	2	1	3	0	5	0	3	0	8	8	rs137892845		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:55872781C>A	ENST00000313503.1	+	1	263	c.263C>A	c.(262-264)aCt>aAt	p.T88N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T88I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AACTTACTGACTTCCAACTAT	0.428										HNSCC(53;0.14)			35	301					2.28855e-06	2.45201e-06	1	0	A	55872781	C	A	55872781	3	1	492	1	0	0	0	0	1	0	0	0	11309	565	20	4	265	4	OR8H2	11	55872781	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	8526590	55872781	79133735	131	95184											
CCDC86	79080	broad.mit.edu	37	chr11	60609627	60609627	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgttaaggcgcagccgacgGctgggaggcctaaggcccga	8	4	16	13	5	0	0	0	0	0	0	0	3	0	1	4	5	1	3	4	5	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:60609627G>T	ENST00000227520.5	+	1	84	c.30G>T	c.(28-30)cgG>cgT	p.R10R	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	10					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCAGCCGACGGCTGGGAGGCC	0.642													5	12					1	1	1	0	T	60609627	G	T	60609627	2	4	492	1	0	0	0	0	0	0	0	1	2888	1190	42	4		4	CCDC86	11	60609627	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	4736846	60609627	74396889	132	95185											
AHNAK	79026	broad.mit.edu	37	chr11	62285198	62285198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacctcctttgatttttGggcccttcaagttgatgcca	6	14	8	13	1	1	2	1	2	0	0	2	2	2	2	5	1	1	2	5	1	1	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:62285198G>C	ENST00000378024.4	-	5	16965	c.16691C>G	c.(16690-16692)cCa>cGa	p.P5564R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5564	Gly-rich.				nervous system development	nucleus	protein binding			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)				TTTGATTTTTGGGCCCTTCAA	0.517													14	210					0	0	0	0	C	62285198	G	C	62285198	3	2	492	1	0	0	0	0	1	0	0	0	414	1348	47	4	1101	4	AHNAK	11	62285198	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	1675571	62285198	72721318	133	95186											
SYTL2	54843	broad.mit.edu	37	chr11	85428535	85428535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactcacttcttggtaCgcattcatttgtaactggct	7	16	7	11	1	3	0	2	0	1	0	3	0	3	0	0	2	4	5	0	2	3	7			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:85428535C>T	ENST00000354566.3	-	4	2631	c.2620G>A	c.(2620-2622)Gta>Ata	p.V874I	SYTL2_ENST00000359152.5_Intron|SYTL2_ENST00000533892.1_5'UTR|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Missense_Mutation_p.V504I|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000524452.1_Missense_Mutation_p.V552I|SYTL2_ENST00000389960.4_Missense_Mutation_p.V552I|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000389958.3_Intron	NM_206927.2	NP_996810.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	538	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCTTGGTACGCATTCATTT	0.343													38	95					0	0	0	0	T	85428535	C	T	85428535	3	4	492	1	0	0	0	0	1	0	0	0	15574	536	19	1	1238	1	SYTL2	11	85428535	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	23143337	85428535	49577981	134	95187											
GRM5	2915	broad.mit.edu	37	chr11	88386464	88386464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggccggagcttcagataaTaatcatcaaaccacttgaca	14	9	7	11	1	3	2	3	1	0	1	3	3	3	3	2	2	2	1	2	2	3	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:88386464T>C	ENST00000418177.2	-	4	1386	c.1019A>G	c.(1018-1020)tAt>tGt	p.Y340C	GRM5_ENST00000393297.1_Missense_Mutation_p.Y340C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y340C|GRM5_ENST00000305447.4_Missense_Mutation_p.Y340C|GRM5_ENST00000305432.5_Missense_Mutation_p.Y340C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	340					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTCAGATAATAATCATCAAA	0.478													5	51					0	0	0	0	C	88386464	T	C	88386464	3	2	492	1	0	0	0	0	1	0	0	0	6850	1406	49	5	2647	5	GRM5	11	88386464	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	2957929	88386464	46620052	135	95188											
OR10G8	219869	broad.mit.edu	37	chr11	123900938	123900938	+	Frame_Shift_Del	DEL	A	A	-																															gtcatttttgtgactgttggAatagtggcctcgggctgctt																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:123900938delA	ENST00000431524.1	+	1	642	c.609delA	c.(607-609)ggfs	p.G203fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGACTGTTGGAATAGTGGCCT	0.537													38	121	---	---	---	---					-	123900938	A	-	123900938	7	5	492	1	0	1	0	1	0	0	0	0	10974	233	9	0	611	0	OR10G8	11	123900938	Frame_Shift_Del	DEL	A	TCGA-UF-A71A-01A-22D-A34J-08	35514474	123900938	11105578	136	95189											
OR8D1	283159	broad.mit.edu	37	chr11	124180230	124180230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaaggcagccagcaCtagcagtgagcagacccatg	15	3	12	11	0	0	4	0	1	0	3	0	4	0	4	2	1	4	4	2	1	4	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:124180230C>G	ENST00000357821.2	-	1	503	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		GCAGCCAGCACTAGCAGTGAG	0.473													17	15					0	0	0	0	G	124180230	C	G	124180230	3	3	492	1	0	0	0	0	1	0	0	0	11302	565	20	4	496	4	OR8D1	11	124180230	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	279292	124180230	10826286	137	95190											
KCNJ1	3758	broad.mit.edu	37	chr11	128712308	128712308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacattccgactggaagcaTtcatggctggaaaaagcaag	15	7	10	9	1	1	0	1	0	0	0	2	3	2	2	1	3	2	3	1	3	4	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:128712308T>C	ENST00000392664.2	-	1	121	c.5A>G	c.(4-6)aAt>aGt	p.N2S	KCNJ1_ENST00000392665.2_Intron|KCNJ1_ENST00000440599.2_Intron|KCNJ1_ENST00000324036.3_Intron|KCNJ1_ENST00000392666.1_Intron	NM_000220.4	NP_000211.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	2					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ACTGGAAGCATTCATGGCTGG	0.448													13	46					0	0	0	0	C	128712308	T	C	128712308	3	2	492	1	0	0	0	0	1	0	0	0	8096	1493	52	5	1178	5	KCNJ1	11	128712308	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	4532078	128712308	6294208	138	95191											
ANO2	57101	broad.mit.edu	37	chr12	6030359	6030359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcctgtctccccattGgagacgatagccagcgagtg	7	10	11	13	2	1	1	0	0	1	1	3	4	2	1	5	1	3	0	5	1	1	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:6030359G>A	ENST00000546188.1	-	3	440	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ANO2_ENST00000327087.8_Silent_p.S123S|ANO2_ENST00000356134.5_Silent_p.S123S			Q9NQ90	ANO2_HUMAN	anoctamin 2	127						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTCCCCATTGGAGACGATAG	0.627													12	35					0	0	0	0	A	6030359	G	A	6030359	2	1	492	1	0	0	0	0	0	0	0	1	696	1335	47	4		4	ANO2	12	6030359	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		6030359	127821536	139	95192											
PRB1	5542	broad.mit.edu	37	chr12	11506762	11506762	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtggttttcctggaggaGatcggggacttcgggacttg	5	13	16	7	2	0	1	0	0	0	1	3	5	1	4	1	6	0	1	1	6	0	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:11506762G>C	ENST00000500254.2	-	3	312	c.275C>G	c.(274-276)tCt>tGt	p.S92C	PRB1_ENST00000545626.1_Missense_Mutation_p.S92C|PRB1_ENST00000546254.1_Missense_Mutation_p.S92C	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	275	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGAGATCGGGGACT	0.617													219	783					0	0	0	0	C	11506762	G	C	11506762	3	2	492	1	0	0	0	0	1	0	0	0	12522	942	33	2	724	2	PRB1	12	11506762	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	5476403	11506762	122345133	140	95193											
STRAP	11171	broad.mit.edu	37	chr12	16048404	16048404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttataacttatggacgAtctattgcttttcatagtgc	9	18	8	6	1	2	0	1	0	1	0	2	2	2	1	0	2	3	2	0	2	5	9			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:16048404A>G	ENST00000419869.2	+	6	925	c.612A>G	c.(610-612)cgA>cgG	p.R204R	STRAP_ENST00000538352.1_Silent_p.R110R|STRAP_ENST00000025399.6_Silent_p.R217R	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	204					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CTTATGGACGATCTATTGCTT	0.313													46	92					0	0	0	0	G	16048404	A	G	16048404	2	3	492	1	0	0	0	0	0	0	0	1	15416	320	12	5		5	STRAP	12	16048404	Silent	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	4541642	16048404	117803491	141	95194											
PDE3A	5139	broad.mit.edu	37	chr12	20769240	20769240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccaccacctcggccacagGtctacccaccttggagcctg	8	6	8	19	1	1	0	0	0	1	0	2	1	1	1	7	3	2	0	7	3	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:20769240G>T	ENST00000359062.3	+	4	1386	c.1346G>T	c.(1345-1347)gGt>gTt	p.G449V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCGGCCACAGGTCTACCCACC	0.562													17	104					3.32936e-07	3.59419e-07	1	0	T	20769240	G	T	20769240	3	4	492	1	0	0	0	0	1	0	0	0	11708	1261	44	4	1360	4	PDE3A	12	20769240	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	4720836	20769240	113082655	142	95195											
KIF21A	55605	broad.mit.edu	37	chr12	39763954	39763954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgtcaaatacatagtCaaaagtaaaagccttatctt	17	12	5	7	0	4	0	3	0	1	0	4	0	4	0	1	0	2	1	1	0	9	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:39763954C>A	ENST00000395670.3	-	2	573	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	KIF21A_ENST00000544797.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.D52Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D52Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	52	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATACATAGTCAAAAGTAAAA	0.388													40	118					2.87052e-16	3.24642e-16	1	0	A	39763954	C	A	39763954	3	1	492	1	0	0	0	0	1	0	0	0	8339	826	29	2	5018	2	KIF21A	12	39763954	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	18994714	39763954	94087941	143	95196											
CNTN1	1272	broad.mit.edu	37	chr12	41330595	41330595	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttagcattccctgagtGggtagaacacatcaatgaca	12	12	8	9	0	1	3	1	2	0	1	2	3	2	3	1	1	2	2	1	1	4	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:41330595G>A	ENST00000551295.2	+	10	1115	c.998G>A	c.(997-999)tGg>tAg	p.W333*	CNTN1_ENST00000360099.3_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547702.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W322*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	333	Ig-like C2-type 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCCCTGAGTGGGTAGAACAC	0.413													17	95					0	0	0	0	A	41330595	G	A	41330595	4	1	492	1	0	0	0	0	0	1	0	0	3670	1357	47	4	1032	4	CNTN1	12	41330595	Nonsense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	1566641	41330595	92521300	144	95197											
ZCRB1	85437	broad.mit.edu	37	chr12	42707675	42707675	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtaagaataatatacataCatttcttcttctggttcagg	13	16	6	6	0	4	1	1	0	3	1	4	1	4	1	0	2	2	2	0	2	7	10			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:42707675C>G	ENST00000266529.3	-	6	630		c.e6+1		PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Splice_Site	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1						mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		AATATACATACATTTCTTCTT	0.323													26	40					0	0	0	0	G	42707675	C	G	42707675	5	3	492	1	0	0	0	0	0	0	1	0	17691	492	17	4	218	4	ZCRB1	12	42707675	Splice_Site	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	1377080	42707675	91144220	145	95198											
KRT5	3852	broad.mit.edu	37	chr12	52913888	52913888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccccccaggttgtagaGgctccggctgccatagccac	7	6	13	15	1	0	1	0	0	0	1	1	2	1	2	6	4	3	4	6	4	2	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:52913888G>T	ENST00000252242.4	-	1	583	c.193C>A	c.(193-195)Ctc>Atc	p.L65I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	65	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTTGTAGAGGCTCCGGCTG	0.642													60	84					5.19286e-32	6.11556e-32	1	0	T	52913888	G	T	52913888	3	4	492	1	0	0	0	0	1	0	0	0	8531	1000	35	4	1615	4	KRT5	12	52913888	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	10206213	52913888	80938007	146	95199											
KRT72	140807	broad.mit.edu	37	chr12	52995193	52995193	+	Frame_Shift_Del	DEL	C	C	-																															ccgcggagcaaccgctgaagCccaggcgctccccgcggggg																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:52995193delC	ENST00000293745.2	-	1	129	c.44delG	c.(43-45)gcfs	p.G15fs	KRT72_ENST00000354310.4_Frame_Shift_Del_p.G15fs|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Frame_Shift_Del_p.G15fs	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	15	Gly-rich.|Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACCGCTGAAGCCCAGGCGCTC	0.701													2	4	---	---	---	---					-	52995193	C	-	52995193	7	5	492	1	0	1	0	1	0	0	0	0	8537	739	26	0	1527	0	KRT72	12	52995193	Frame_Shift_Del	DEL	C	TCGA-UF-A71A-01A-22D-A34J-08	81305	52995193	80856702	147	95200											
KRT4	3851	broad.mit.edu	37	chr12	53202524	53202524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgggcaatctcctcGtactgggcacggacctcggc	5	9	11	16	3	2	0	0	0	2	0	6	1	3	1	3	4	1	3	3	4	2	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:53202524G>A	ENST00000551956.1	-	5	1437	c.945C>T	c.(943-945)taC>taT	p.Y315Y	KRT4_ENST00000458244.2_Silent_p.Y295Y|KRT4_ENST00000293774.4_Silent_p.Y389Y			B4DRS2	B4DRS2_HUMAN	keratin 4	315						keratin filament	structural molecule activity	p.Y389Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CAATCTCCTCGTACTGGGCAC	0.592													29	121					0	0	0	0	A	53202524	G	A	53202524	2	1	492	1	0	0	0	0	0	0	0	1	8529	1140	40	1		1	KRT4	12	53202524	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	207331	53202524	80649371	148	95201											
ZBTB39	9880	broad.mit.edu	37	chr12	57397279	57397279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctggcccttcaagtttaGatggtcaaggatgtggcccc	7	10	13	11	0	2	1	2	0	0	1	2	2	2	2	4	5	0	1	4	5	3	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57397279G>C	ENST00000300101.2	-	2	1508	c.1423C>G	c.(1423-1425)Cta>Gta	p.L475V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTCAAGTTTAGATGGTCAAGG	0.562													9	53					0	0	0	0	C	57397279	G	C	57397279	3	2	492	1	0	0	0	0	1	0	0	0	17635	933	33	2	719	2	ZBTB39	12	57397279	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	4194755	57397279	76454616	149	95202											
STAT6	6778	broad.mit.edu	37	chr12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcactggctggctcaggCagctgtcttccaccatggtc	5	11	11	14	0	3	0	2	0	1	0	5	0	4	0	2	4	1	4	2	4	0	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57490672C>T	ENST00000300134.3	-	21	2640	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y|STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y|STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y|STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	772					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642													48	47					0	0	0	0	T	57490672	C	T	57490672	3	4	492	1	0	0	0	0	1	0	0	0	15360	710	25	4	236	4	STAT6	12	57490672	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	93393	57490672	76361223	150	95203											
ANKS1B	56899	broad.mit.edu	37	chr12	100200410	100200410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtcagtgagctcttctagGagaacagcaactacttctga	11	10	11	9	0	4	3	1	2	3	1	4	4	4	3	0	2	5	2	0	2	4	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:100200410G>A	ENST00000547776.2	-	4	440	c.441C>T	c.(439-441)ctC>ctT	p.L147L	ANKS1B_ENST00000329257.7_Silent_p.L147L|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	147						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTCTTCTAGGAGAACAGCAA	0.418													8	44					0	0	0	0	A	100200410	G	A	100200410	2	1	492	1	0	0	0	0	0	0	0	1	688	1161	41	2		2	ANKS1B	12	100200410	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	42709738	100200410	33651485	151	95204											
UBE3B	89910	broad.mit.edu	37	chr12	109921470	109921470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctgttgtgatccaggcCcatgtccggagttttctctg	5	13	12	11	1	1	1	0	1	1	0	4	2	3	2	3	2	1	4	3	2	0	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:109921470C>T	ENST00000342494.3	+	3	709	c.114C>T	c.(112-114)gcC>gcT	p.A38A	UBE3B_ENST00000540230.1_Silent_p.A38A|UBE3B_ENST00000340074.5_Silent_p.A38A|UBE3B_ENST00000536398.1_Silent_p.A38A|UBE3B_ENST00000434735.2_Silent_p.A38A|UBE3B_ENST00000537063.1_Silent_p.A38A|UBE3B_ENST00000280774.5_Silent_p.A38A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	38	IQ.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATCCAGGCCCATGTCCGGA	0.537													46	94					0	0	0	0	T	109921470	C	T	109921470	2	4	492	1	0	0	0	0	0	0	0	1	16976	610	22	4		4	UBE3B	12	109921470	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	9721060	109921470	23930425	152	95205											
TMEM116	89894	broad.mit.edu	37	chr12	112369503	112369503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgctatagaatctcttCtgtgagcataataatggtgt	10	14	8	9	0	2	2	0	1	2	1	3	2	2	2	2	1	2	2	2	1	5	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:112369503C>T	ENST00000354825.3	-	13	1315	c.660G>A	c.(658-660)caG>caA	p.Q220Q	TMEM116_ENST00000355445.3_Silent_p.Q277Q|TMEM116_ENST00000552374.2_Silent_p.Q312Q|TMEM116_ENST00000549537.2_Silent_p.Q126Q|TMEM116_ENST00000437003.2_Silent_p.Q220Q|TMEM116_ENST00000550831.3_Silent_p.Q220Q			Q8NCL8	TM116_HUMAN	transmembrane protein 116	220						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AGAATCTCTTCTGTGAGCATA	0.448													59	97					0	0	0	0	T	112369503	C	T	112369503	2	4	492	1	0	0	0	0	0	0	0	1	16124	912	32	2		2	TMEM116	12	112369503	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2448033	112369503	21482392	153	95206											
NAA25	80018	broad.mit.edu	37	chr12	112481476	112481476	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgtctccagggttgcctCcagctgttgaaggagcaaac	8	10	11	12	0	1	1	0	1	1	0	4	2	3	2	4	2	4	4	4	2	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:112481476C>A	ENST00000261745.4	-	18	2451	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	735						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGGGTTGCCTCCAGCTGTTGA	0.433													69	107					4.83677e-39	5.74367e-39	1	0	A	112481476	C	A	112481476	4	1	492	1	0	0	0	0	0	1	0	0	10191	864	30	2	743	2	NAA25	12	112481476	Nonsense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	111973	112481476	21370419	154	95207											
NCOR2	9612	broad.mit.edu	37	chr12	124811994	124811994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcactccgtccgtcagcagCggttatgggcatagcagcgg	7	8	14	12	4	2	0	2	0	0	0	4	0	4	0	2	3	4	4	2	3	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:124811994C>T	ENST00000356219.3	-	46	7320	c.7165G>A	c.(7165-7167)Gct>Act	p.A2389T	NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2372T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2382T|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1943T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2393					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCGTCAGCAGCGGTTATGGGC	0.637													5	118					0	0	0	0	T	124811994	C	T	124811994	3	4	492	1	0	0	0	0	1	0	0	0	10306	768	27	1	412	1	NCOR2	12	124811994	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	12330518	124811994	9039901	155	95208											
CENPJ	55835	broad.mit.edu	37	chr13	25480447	25480447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttctaaaaacaaaaattCatctaattccaaattttcct	16	16	1	8	0	3	0	1	0	2	0	5	0	5	0	2	0	1	1	2	0	7	8			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:25480447C>T	ENST00000381884.4	-	7	1914	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E577K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	577					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AACAAAAATTCATCTAATTCC	0.343													14	57					0	0	0	0	T	25480447	C	T	25480447	3	4	492	1	0	0	0	0	1	0	0	0	3263	835	29	2	2331	2	CENPJ	13	25480447	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08		25480447	89689431	156	95209											
PABPC3	5042	broad.mit.edu	37	chr13	25672188	25672188	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaccaagctaaagaggctAcccagaaagcagttaacagt	16	5	8	12	0	0	2	0	0	0	2	0	2	0	2	3	1	4	4	3	1	6	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:25672188A>G	ENST00000281589.3	+	1	1889	c.1852A>G	c.(1852-1854)Acc>Gcc	p.T618A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	618					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.T618A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TAAAGAGGCTACCCAGAAAGC	0.408													12	194					0	0	0	0	G	25672188	A	G	25672188	3	3	492	1	0	0	0	0	1	0	0	0	11436	391	14	5	1854	5	PABPC3	13	25672188	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	191741	25672188	89497690	157	95210											
PCDH20	64881	broad.mit.edu	37	chr13	61987012	61987012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagagcagtgattacagcaGggatgcagcctggtccatta	12	8	12	9	0	0	2	0	1	0	1	1	3	1	3	2	2	5	3	2	2	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:61987012G>A	ENST00000409186.1	-	5	3325	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	PCDH20_ENST00000409204.4_Missense_Mutation_p.P407L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	380	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GATTACAGCAGGGATGCAGCC	0.428													23	115					0	0	0	0	A	61987012	G	A	61987012	3	1	492	1	0	0	0	0	1	0	0	0	11586	1000	35	4	1639	4	PCDH20	13	61987012	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	36314824	61987012	53182866	158	95211											
KLHL1	57626	broad.mit.edu	37	chr13	70681435	70681435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtccaggaaagtccaTgcctggcaccacctcctcct	7	9	10	15	0	0	0	0	0	0	0	4	1	4	1	7	3	1	1	7	3	1	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:70681435T>C	ENST00000377844.4	-	1	1156	c.397A>G	c.(397-399)Atg>Gtg	p.M133V	KLHL1_ENST00000545028.1_Start_Codon_SNP_p.M1V|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	133					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAAAGTCCATGCCTGGCACC	0.587													84	31					0	0	0	0	C	70681435	T	C	70681435	3	2	492	1	0	0	0	0	1	0	0	0	8417	1464	51	5	1893	5	KLHL1	13	70681435	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	8694423	70681435	44488443	159	95212											
GPC5	2262	broad.mit.edu	37	chr13	93518618	93518618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttagacacaacaggagcaGgatgtgcagtggcgactgaa	13	7	13	8	1	0	2	0	1	0	1	0	5	0	4	0	3	3	2	0	3	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:93518618G>A	ENST00000377067.3	+	8	2017	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	549						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AACAGGAGCAGGATGTGCAGT	0.438													100	37					0	0	0	0	A	93518618	G	A	93518618	3	1	492	1	0	0	0	0	1	0	0	0	6650	1001	35	4	1675	4	GPC5	13	93518618	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	22837183	93518618	21651260	160	95213											
ZIC5	85416	broad.mit.edu	37	chr13	100617831	100617831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccagcacaggggacaaggGggcgcccactggagtcccca	9	3	15	14	1	0	0	0	0	0	0	2	2	2	2	4	5	1	1	4	5	1	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:100617831G>A	ENST00000267294.4	-	2	2025	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	598					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGGACAAGGGGGCGCCCACT	0.612													25	92					0	0	0	0	A	100617831	G	A	100617831	3	1	492	1	0	0	0	0	1	0	0	0	17777	1232	43	4	203	4	ZIC5	13	100617831	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	7099213	100617831	14552047	161	95214											
MYH6	4624	broad.mit.edu	37	chr14	23855803	23855803	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactctagctgggcccggagGatcttgccctcctcgtgctc	5	10	11	15	2	2	0	0	0	2	0	5	2	3	2	3	3	4	2	3	3	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:23855803G>T	ENST00000405093.3	-	33	4750	c.4680C>A	c.(4678-4680)atC>atA	p.I1560I	MYH6_ENST00000356287.3_Silent_p.I1560I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1560					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGCCCGGAGGATCTTGCCCT	0.632													31	199					8.88839e-20	1.02558e-19	1	0	T	23855803	G	T	23855803	2	4	492	1	0	0	0	0	0	0	0	1	10108	1164	41	2		2	MYH6	14	23855803	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		23855803	83493737	162	95215											
FANCM	57697	broad.mit.edu	37	chr14	45658390	45658390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaggtgcgttctactcCaagagttaatccattagcaa	12	11	8	10	1	1	1	0	0	1	1	4	1	4	1	3	1	3	3	3	1	6	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:45658390C>T	ENST00000267430.5	+	20	5250	c.5165C>T	c.(5164-5166)cCa>cTa	p.P1722L	FANCM_ENST00000542564.2_Missense_Mutation_p.P1696L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1722					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			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						CGTTCTACTCCAAGAGTTAAT	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				53	194					0	0	0	0	T	45658390	C	T	45658390	3	4	492	1	0	0	0	0	1	0	0	0	5716	594	21	4	5243	4	FANCM	14	45658390	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	21802587	45658390	61691150	163	95216											
RGS6	9628	broad.mit.edu	37	chr14	73006752	73006752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttttttcctaaagccaGaaagtgagcaaggtcgtaga	12	14	9	6	1	0	3	0	1	0	2	2	3	1	3	2	1	2	2	2	1	5	7			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:73006752G>A	ENST00000553525.1	+	17	1895	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	RGS6_ENST00000343854.6_Missense_Mutation_p.E421K|RGS6_ENST00000553530.1_Intron|RGS6_ENST00000434263.2_Missense_Mutation_p.E389K|RGS6_ENST00000554782.1_Missense_Mutation_p.E319K|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000402788.2_Intron|RGS6_ENST00000406236.4_Missense_Mutation_p.E458K|RGS6_ENST00000404301.2_Missense_Mutation_p.E458K|RGS6_ENST00000556437.1_Missense_Mutation_p.E458K|RGS6_ENST00000407322.4_Missense_Mutation_p.E458K	NM_001204424.1	NP_001191353.1	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	456					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCTAAAGCCAGAAAGTGAGCA	0.398													9	13					0	0	0	0	A	73006752	G	A	73006752	3	1	492	1	0	0	0	0	1	0	0	0	13392	957	33	2		2	RGS6	14	73006752	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	27348362	73006752	34342788	164	95217											
LTBP2	4053	broad.mit.edu	37	chr14	74989534	74989534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagctggtagccagggCtgcagacacatctgtatcca	9	8	13	11	0	1	1	0	0	1	1	2	1	2	1	2	3	4	6	2	3	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:74989534C>A	ENST00000261978.4	-	16	3004	c.2618G>T	c.(2617-2619)aGc>aTc	p.S873I	LTBP2_ENST00000556690.1_Missense_Mutation_p.S873I	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	873	Cys-rich.|EGF-like 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTAGCCAGGGCTGCAGACACA	0.617													6	33					0.00307968	0.00313467	1	0	A	74989534	C	A	74989534	3	1	492	1	0	0	0	0	1	0	0	0	9138	797	28	4	2931	4	LTBP2	14	74989534	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	1982782	74989534	32360006	165	95218											
KIAA1737	85457	broad.mit.edu	37	chr14	77576297	77576297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctaccctgtctcccatggtCgtcatgaagaatgtgcttgt	7	13	9	12	1	2	2	1	1	1	1	4	2	2	2	3	1	2	1	3	1	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:77576297C>T	ENST00000361786.2	+	3	596	c.279C>T	c.(277-279)gtC>gtT	p.V93V	KIAA1737_ENST00000555611.1_Silent_p.V93V|KIAA1737_ENST00000555437.1_Intron|RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	93										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CTCCCATGGTCGTCATGAAGA	0.473													15	96					0	0	0	0	T	77576297	C	T	77576297	2	4	492	1	0	0	0	0	0	0	0	1	8306	871	31	1		1	KIAA1737	14	77576297	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2586763	77576297	29773243	166	95219											
SNW1	22938	broad.mit.edu	37	chr14	78205149	78205149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaggagccaatttgtCagctgctcgaactggcatgg	9	9	13	10	1	1	1	1	1	0	0	2	3	1	2	1	3	5	4	1	3	2	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:78205149C>A	ENST00000261531.7	-	5	567	c.505G>T	c.(505-507)Gac>Tac	p.D169Y	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.D169Y|SNW1_ENST00000554775.1_Missense_Mutation_p.D7Y	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	169					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCCAATTTGTCAGCTGCTCGA	0.423													12	130					9.31168e-06	9.829e-06	1	0	A	78205149	C	A	78205149	3	1	492	1	0	0	0	0	1	0	0	0	14967	826	29	2	1145	2	SNW1	14	78205149	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	628852	78205149	29144391	167	95220											
WDR25	79446	broad.mit.edu	37	chr14	100995422	100995422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaggttcacctgcccCagcctcgccttgcacccgag	7	6	11	17	2	1	1	1	0	0	1	2	3	1	1	6	2	3	2	6	2	0	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:100995422C>T	ENST00000335290.6	+	6	1516	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	WDR25_ENST00000554998.1_Silent_p.P430P|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.P430P|WDR25_ENST00000542471.2_Silent_p.P173P	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	430										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCACCTGCCCCAGCCTCGCCT	0.622													21	82					0	0	0	0	T	100995422	C	T	100995422	2	4	492	1	0	0	0	0	0	0	0	1	17378	581	21	4		4	WDR25	14	100995422	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	22790273	100995422	6354118	168	95221											
AHNAK2	113146	broad.mit.edu	37	chr14	105406956	105406956	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctttcccttcgtggtcAgcatcttcagaaggggcttc	5	13	9	14	1	3	1	2	0	1	1	7	1	5	1	2	3	1	2	2	3	1	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:105406956A>C	ENST00000333244.5	-	7	14951	c.14832T>G	c.(14830-14832)gcT>gcG	p.A4944A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4944						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTCGTGGTCAGCATCTTCAG	0.552													14	72					0	0	0	0	C	105406956	A	C	105406956	2	2	492	1	0	0	0	0	0	0	0	1	415	175	7	5		5	AHNAK2	14	105406956	Silent	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	4411534	105406956	1942584	169	95222											
RYR3	6263	broad.mit.edu	37	chr15	33603218	33603218	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggaagcagaggcgccggagGctggggcaccgccgacgcct	7	2	19	13	5	0	1	0	0	0	1	0	4	0	3	4	6	1	3	4	6	1	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:33603218G>A	ENST00000389232.4	+	0	42				RYR3_ENST00000415757.3_De_novo_Start_OutOfFrame	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCGCCGGAGGCTGGGGCACC	0.692													11	10					0	0	0	0	A	33603218	G	A	33603218	1	1	492	1	0	0	0	0	0	0	0	0	13855	1218	42	4		4	RYR3	15	33603218	Translation_Start_Site	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		33603218	68928174	170	95223											
DUOXA2	405753	broad.mit.edu	37	chr15	45406917	45406917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggctctagcagcaagcttCctgctcatcttgccggggat	6	12	11	12	1	3	0	1	0	2	0	4	1	4	1	2	3	5	5	2	3	2	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:45406917C>T	ENST00000323030.5	+	1	399	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	38					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CAGCAAGCTTCCTGCTCATCT	0.577													27	72					0	0	0	0	T	45406917	C	T	45406917	2	4	492	1	0	0	0	0	0	0	0	1	4839	854	30	2		2	DUOXA2	15	45406917	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	11803699	45406917	57124475	171	95224											
CSPG4	1464	broad.mit.edu	37	chr15	75980081	75980081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggcctggtgttgcccgtCggacacctgcagctggatcc	5	9	14	13	2	0	0	0	0	0	0	2	2	1	2	4	4	3	3	4	4	0	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:75980081C>T	ENST00000308508.5	-	3	3417	c.3325G>A	c.(3325-3327)Gac>Aac	p.D1109N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1109	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGTTGCCCGTCGGACACCTGC	0.657													21	75					0	0	0	0	T	75980081	C	T	75980081	3	4	492	1	0	0	0	0	1	0	0	0	3992	884	31	1	3675	1	CSPG4	15	75980081	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	30573164	75980081	26551311	172	95225											
SLC28A1	9154	broad.mit.edu	37	chr15	85486741	85486741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcagctccattgggatCatgctgggaggcttgagtga	9	12	13	7	0	2	2	2	2	0	0	3	4	3	4	1	3	2	3	1	3	1	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:85486741C>T	ENST00000394573.1	+	16	1849	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.I549I|SLC28A1_ENST00000286749.3_Silent_p.I549I|SLC28A1_ENST00000538177.1_Silent_p.I383I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	549					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCATTGGGATCATGCTGGGAG	0.522													15	75					0	0	0	0	T	85486741	C	T	85486741	2	4	492	1	0	0	0	0	0	0	0	1	14619	816	29	2		2	SLC28A1	15	85486741	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	9506660	85486741	17044651	173	95226											
MRPL46	26589	broad.mit.edu	37	chr15	89010583	89010583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccccgccacccctaacAgcgtccgccttacgggcgcc	7	4	8	22	5	0	0	0	0	0	0	1	0	1	0	9	1	4	0	9	1	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:89010583A>G	ENST00000312475.4	-	1	67	c.26T>C	c.(25-27)cTg>cCg	p.L9P		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	9						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCCCTAACAGCGTCCGCCT	0.672													4	3					0	0	0	0	G	89010583	A	G	89010583	3	3	492	1	0	0	0	0	1	0	0	0	9880	188	7	5	829	5	MRPL46	15	89010583	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	3523842	89010583	13520809	174	95227											
AXIN1	8312	broad.mit.edu	37	chr16	360043	360043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccctgcggtgctgcttaCggatcctgtatggggggatc	4	12	14	11	2	1	0	0	0	1	0	4	2	2	2	2	5	4	3	2	5	2	2	rs36045489		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:360043C>T	ENST00000262320.3	-	4	1417	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R349H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTGCTGCTTACGGATCCTGTA	0.612													5	22					0	0	0	0	T	360043	C	T	360043	3	4	492	1	0	0	0	0	1	0	0	0	1240	536	19	1	1574	1	AXIN1	16	360043	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08		360043	89994710	175	95228											
NLRC3	197358	broad.mit.edu	37	chr16	3613383	3613383	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctcggagacaagaggcCggagaggaagcgcaggaaca	14	1	16	10	3	0	3	0	0	0	3	1	8	0	5	2	5	2	1	2	5	3	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:3613383C>T	ENST00000301749.7	-	0	1960				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACAAGAGGCCGGAGAGGAAG	0.692													6	2					0	0	0	0	T	3613383	C	T	3613383	1	4	492	0	1	0	0	0	0	0	0	0	10538	652	23	1		1	NLRC3	16	3613383	RNA	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	3253340	3613383	86741370	176	95229											
BCKDK	10295	broad.mit.edu	37	chr16	31120604	31120604	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcttccgctccggcccctCctgggacccgcactcgcgct	2	7	12	20	5	0	0	0	0	0	0	4	1	3	1	6	3	0	4	6	3	0	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:31120604C>A	ENST00000394951.1	+	3	683	c.60C>A	c.(58-60)ctC>ctA	p.L20L	BCKDK_ENST00000219794.6_Silent_p.L20L|BCKDK_ENST00000394950.3_Silent_p.L20L|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Silent_p.L20L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	20					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TCCGGCCCCTCCTGGGACCCG	0.697													4	18					0.184627	0.185277	1	0	A	31120604	C	A	31120604	2	1	492	1	0	0	0	0	0	0	0	1	1365	842	30	2		2	BCKDK	16	31120604	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	27507221	31120604	59234149	177	95230											
CDH11	1009	broad.mit.edu	37	chr16	65026924	65026924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcatctgaagctgtcacctgGattactgacgttccttaaaa	11	12	8	10	1	2	2	1	2	1	0	3	3	3	3	2	1	2	3	2	1	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:65026924G>C	ENST00000394156.3	-	5	990	c.537C>G	c.(535-537)atC>atG	p.I179M	CDH11_ENST00000268603.4_Missense_Mutation_p.I179M|CDH11_ENST00000566827.1_Missense_Mutation_p.I53M			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	179	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTCACCTGGATTACTGACG	0.368			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			30	59					0	0	0	0	C	65026924	G	C	65026924	3	2	492	1	0	0	0	0	1	0	0	0	3126	1164	41	2	1889	2	CDH11	16	65026924	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	33906320	65026924	25327829	178	95231											
POLR2A	5430	broad.mit.edu	37	chr17	7406588	7406588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgggaggtgctcagggtcAtcttcccaactggagacagc	9	8	13	11	1	3	1	2	0	1	1	5	3	4	2	1	4	3	1	1	4	1	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7406588A>G	ENST00000322644.6	+	17	3304	c.2905A>G	c.(2905-2907)Atc>Gtc	p.I969V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	969					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II 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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCTCAGGGTCATCTTCCCAAC	0.597													22	69					0	0	0	0	G	7406588	A	G	7406588	3	3	492	1	0	0	0	0	1	0	0	0	12286	217	8	5	2971	5	POLR2A	17	7406588	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08		7406588	73788622	179	95232											
SHBG	6462	broad.mit.edu	37	chr17	7534049	7534049	+	Silent	SNP	T	T	C																															gacccagagggagtgattttTtatggggataccaaccctaa																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7534049T>C	ENST00000380450.4	+	3	286	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SHBG_ENST00000572262.1_Silent_p.F27F|SHBG_ENST00000576478.1_Silent_p.F27F|SHBG_ENST00000570547.1_Silent_p.F27F|SHBG_ENST00000441599.2_Silent_p.F85F|SHBG_ENST00000575903.1_Silent_p.F85F|SHBG_ENST00000340624.5_Silent_p.F27F|SHBG_ENST00000575314.1_Silent_p.F27F|SHBG_ENST00000574539.1_Silent_p.F27F|SHBG_ENST00000572182.1_Silent_p.F27F|SHBG_ENST00000416273.3_Silent_p.F85F|SHBG_ENST00000576728.1_Silent_p.F27F	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	85	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GAGTGATTTTTTATGGGGATA	0.512													7	114					0	0	0	0	C	7534049	T	C	7534049	2	2	492	1	0	0	0	0	0	0	0	1	14357	1838	64	5		5	SHBG	17	7534049	Silent	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	127461	7534049	73661161	180	95233	1135	2									
SHBG	6462	broad.mit.edu	37	chr17	7534051	7534051	+	Missense_Mutation	SNP	A	A	T																															cccagagggagtgattttttAtggggataccaaccctaagg																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7534051A>T	ENST00000380450.4	+	3	288	c.257A>T	c.(256-258)tAt>tTt	p.Y86F	SHBG_ENST00000572262.1_Missense_Mutation_p.Y28F|SHBG_ENST00000576478.1_Missense_Mutation_p.Y28F|SHBG_ENST00000570547.1_Missense_Mutation_p.Y28F|SHBG_ENST00000441599.2_Missense_Mutation_p.Y86F|SHBG_ENST00000575903.1_Missense_Mutation_p.Y86F|SHBG_ENST00000340624.5_Missense_Mutation_p.Y28F|SHBG_ENST00000575314.1_Missense_Mutation_p.Y28F|SHBG_ENST00000574539.1_Missense_Mutation_p.Y28F|SHBG_ENST00000572182.1_Missense_Mutation_p.Y28F|SHBG_ENST00000416273.3_Missense_Mutation_p.Y86F|SHBG_ENST00000576728.1_Missense_Mutation_p.Y28F	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	86	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GTGATTTTTTATGGGGATACC	0.512													7	118					0	0	0	0	T	7534051	A	T	7534051	3	4	492	1	0	0	0	0	1	0	0	0	14357	449	16	5	267	5	SHBG	17	7534051	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	2	7534051	73661159	181	95234	1135	2									
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	52					0	0	0	0	T	7577538	C	T	7577538	3	4	492	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	43487	7577538	73617672	182	95235											
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	5	11	14	1	2	1	2	0	0	1	2	2	2	1	4	3	2	4	4	3	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7578176C>A	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		GCAAACCAGACCTCAGGCGGC	0.527		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)			16	24					3.45872e-05	3.59757e-05	1	0	A	7578176	C	A	7578176	5	1	492	1	0	0	0	0	0	0	1	0	16476	521	18	4	621	4	TP53	17	7578176	Splice_Site	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	638	7578176	73617034	183	95236											
EFNB3	1949	broad.mit.edu	37	chr17	7611407	7611407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacaagctgtacctggtagGgggtgctcagggccggcgct	6	8	16	11	2	1	0	1	0	0	0	1	0	1	0	2	5	4	5	2	5	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7611407G>A	ENST00000226091.2	+	2	651	c.254G>A	c.(253-255)gGg>gAg	p.G85E		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	85					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TACCTGGTAGGGGGTGCTCAG	0.627													57	54					0	0	0	0	A	7611407	G	A	7611407	3	1	492	1	0	0	0	0	1	0	0	0	4993	1232	43	4	260	4	EFNB3	17	7611407	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	33231	7611407	73583803	184	95237											
ALOX15B	247	broad.mit.edu	37	chr17	7948606	7948606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctctggcatccagacCaatgtcattaatgggaagcc	11	10	8	12	0	2	1	1	0	1	1	5	2	4	2	4	2	1	1	4	2	3	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7948606C>T	ENST00000380183.4	+	7	1039	c.900C>T	c.(898-900)acC>acT	p.T300T	ALOX15B_ENST00000380173.2_Silent_p.T300T|ALOX15B_ENST00000572022.1_Silent_p.T300T|ALOX15B_ENST00000573359.1_Silent_p.T300T	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	300	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCATCCAGACCAATGTCATTA	0.567													58	58					0	0	0	0	T	7948606	C	T	7948606	2	4	492	1	0	0	0	0	0	0	0	1	539	581	21	4		4	ALOX15B	17	7948606	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	337199	7948606	73246604	185	95238											
TMEM107	84314	broad.mit.edu	37	chr17	8077876	8077876	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taccaatacgtagtgcactcCcaacgctcgaatatgaagaa	15	8	7	11	3	0	2	0	1	0	1	2	3	1	2	2	0	4	3	2	0	9	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:8077876C>T	ENST00000316425.5	-	4	445	c.333G>A	c.(331-333)tgG>tgA	p.W111*	TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000437139.2_Nonsense_Mutation_p.W105*|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.W111*|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000532998.1_3'UTR	NM_032354.3	NP_115730.2	Q6UX40	TM107_HUMAN	transmembrane protein 107	105						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						TAGTGCACTCCCAACGCTCGA	0.493													88	277					0	0	0	0	T	8077876	C	T	8077876	4	4	492	1	0	0	0	0	0	1	0	0	16117	624	22	4	115	4	TMEM107	17	8077876	Nonsense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	129270	8077876	73117334	186	95239											
RCVRN	5957	broad.mit.edu	37	chr17	9808174	9808174	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgttaccgtccacgtcgtaGagggagaaggcccactccag	9	6	12	14	4	0	2	0	0	0	2	3	3	2	2	5	2	1	2	5	2	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:9808174G>C	ENST00000226193.5	-	1	764	c.324C>G	c.(322-324)ctC>ctG	p.L108L		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	108	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCACGTCGTAGAGGGAGAAGG	0.617													26	97					0	0	0	0	C	9808174	G	C	9808174	2	2	492	1	0	0	0	0	0	0	0	1	13268	929	33	2		2	RCVRN	17	9808174	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	1730298	9808174	71387036	187	95240											
MYO15A	51168	broad.mit.edu	37	chr17	18070934	18070934	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacctgaagggactcttcAgcagtgtgccggccagccgg	8	7	13	13	2	2	1	1	1	1	0	2	2	2	2	4	3	4	1	4	3	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:18070934A>T	ENST00000205890.5	+	62	10317	c.9979A>T	c.(9979-9981)Agc>Tgc	p.S3327C	MYO15A_ENST00000418233.3_Missense_Mutation_p.S591C|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3327	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGACTCTTCAGCAGTGTGCC	0.667													8	46					0	0	0	0	T	18070934	A	T	18070934	3	4	492	1	0	0	0	0	1	0	0	0	10133	188	7	5	10217	5	MYO15A	17	18070934	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	8262760	18070934	63124276	188	95241											
NAGLU	4669	broad.mit.edu	37	chr17	40690691	40690691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctgttcctccagcacCgggtcctggaccagatgcgc	5	10	10	16	2	1	1	0	0	1	1	5	2	5	2	6	2	2	2	6	2	0	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:40690691C>T	ENST00000225927.2	+	4	783	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	228						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTCCAGCACCGGGTCCTGGA	0.627													16	69					0	0	0	0	T	40690691	C	T	40690691	3	4	492	1	0	0	0	0	1	0	0	0	10213	643	23	1	696	1	NAGLU	17	40690691	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	22619757	40690691	40504519	189	95242											
STH	246744	broad.mit.edu	37	chr17	44076712	44076712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagactgtgcaggtggccgGccctcattgaatgcggggtt	7	9	15	10	2	1	2	1	1	0	1	1	2	1	2	2	5	2	2	2	5	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:44076712G>T	ENST00000537309.1	+	1	97	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	23						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						caggtggccggccctcattga	0.542													18	53					5.3912e-06	5.71187e-06	1	0	T	44076712	G	T	44076712	3	4	492	1	0	0	0	0	1	0	0	0	15371	1203	42	4	69	4	STH	17	44076712	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	3386021	44076712	37118498	190	95243											
CLTC	1213	broad.mit.edu	37	chr17	57758661	57758661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttcttaaaggaatcTgcaaaacctccttatcctca	11	17	3	10	0	3	0	1	0	2	0	5	1	5	1	3	1	2	1	3	1	6	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:57758661T>A	ENST00000269122.3	+	20	3345	c.3071T>A	c.(3070-3072)cTg>cAg	p.L1024Q	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L1024Q	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1024	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAAAGGAATCTGCAAAACCTC	0.348			T	"ALK, TFE3"	"ALCL, renal "								4	168					0	0	0	0	A	57758661	T	A	57758661	3	1	492	1	0	0	0	0	1	0	0	0	3596	1580	55	5	3149	5	CLTC	17	57758661	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	13681949	57758661	23436549	191	95244											
RNFT1	51136	broad.mit.edu	37	chr17	58040503	58040503	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagaaccctctcctgtcaAtcttgtgtggacacactgag	10	10	9	12	0	3	2	1	1	2	1	4	3	3	3	2	1	1	1	2	1	3	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:58040503A>G	ENST00000305783.8	-	2	254	c.199T>C	c.(199-201)Ttg>Ctg	p.L67L	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Silent_p.L30L	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	67						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCTCCTGTCAATCTTGTGTGG	0.468													39	84					0	0	0	0	G	58040503	A	G	58040503	2	3	492	1	0	0	0	0	0	0	0	1	13586	98	4	5		5	RNFT1	17	58040503	Silent	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	281842	58040503	23154707	192	95245											
SOX9	6662	broad.mit.edu	37	chr17	70119806	70119806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagacagccccctatcgacTtccgcgacgtggacatcggc	8	6	11	16	5	0	1	0	0	0	1	3	4	1	2	3	2	1	1	3	2	1	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:70119806T>A	ENST00000245479.2	+	3	1180	c.808T>A	c.(808-810)Ttc>Atc	p.F270I		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	270					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCCTATCGACTTCCGCGACGT	0.647													76	66					0	0	0	0	A	70119806	T	A	70119806	3	1	492	1	0	0	0	0	1	0	0	0	15046	1609	56	5	818	5	SOX9	17	70119806	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	12079303	70119806	11075404	193	95246											
RNMT	8731	broad.mit.edu	37	chr18	13737060	13737060	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgtgatatcactgtttTggacctgggatgtggtaaag	12	12	12	5	1	1	1	1	1	0	0	1	3	1	3	1	3	1	2	1	3	5	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:13737060T>G	ENST00000383314.2	+	5	845	c.605T>G	c.(604-606)tTg>tGg	p.L202W	RNMT_ENST00000262173.3_Missense_Mutation_p.L202W|RNMT_ENST00000589866.1_Missense_Mutation_p.L202W|RNMT_ENST00000543302.2_Missense_Mutation_p.L202W|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000592764.1_Missense_Mutation_p.L202W			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	202					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATCACTGTTTTGGACCTGGGA	0.343													34	92					0	0	0	0	G	13737060	T	G	13737060	3	3	492	1	0	0	0	0	1	0	0	0	13591	1821	63	5	615	5	RNMT	18	13737060	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08		13737060	64340188	194	95247											
RIOK3	8780	broad.mit.edu	37	chr18	21053550	21053550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaaatccacgtaagatcAtccgcatgtgggcagaaaaa	17	7	8	9	2	1	2	1	0	0	2	3	2	3	2	2	1	1	3	2	1	6	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:21053550A>G	ENST00000339486.3	+	8	1590	c.973A>G	c.(973-975)Atc>Gtc	p.I325V	RIOK3_ENST00000577501.1_Missense_Mutation_p.I325V|RIOK3_ENST00000581585.1_Missense_Mutation_p.I309V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	325	Protein kinase.			I -> H (in Ref. 1; AAC26080).	chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACGTAAGATCATCCGCATGTG	0.323													29	16					0	0	0	0	G	21053550	A	G	21053550	3	3	492	1	0	0	0	0	1	0	0	0	13464	217	8	5	1003	5	RIOK3	18	21053550	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	7316490	21053550	57023698	195	95248											
LAMA3	3909	broad.mit.edu	37	chr18	21451526	21451526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggctcaccctgagcgaGgtggggctagaggaagcctc	10	5	15	11	1	1	2	1	1	0	1	2	4	1	3	2	5	2	2	2	5	3	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:21451526G>T	ENST00000313654.9	+	38	5140	c.4899G>T	c.(4897-4899)gaG>gaT	p.E1633D	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1633D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1633	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTGAGCGAGGTGGGGCTAG	0.577													6	39					5.18039e-06	5.509e-06	1	0	T	21451526	G	T	21451526	3	4	492	1	0	0	0	0	1	0	0	0	8660	991	35	4	5049	4	LAMA3	18	21451526	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	397976	21451526	56625722	196	95249											
ASXL3	80816	broad.mit.edu	37	chr18	31325430	31325430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctaggacacagccagcCatttaagcaagaatggctaa	15	7	9	10	0	1	1	1	0	0	1	1	2	1	2	2	2	4	3	2	2	5	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:31325430C>T	ENST00000269197.5	+	12	5618	c.5618C>T	c.(5617-5619)cCa>cTa	p.P1873L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAGCCAGCCATTTAAGCAA	0.488													129	123					0	0	0	0	T	31325430	C	T	31325430	3	4	492	1	0	0	0	0	1	0	0	0	1072	594	21	4	5664	4	ASXL3	18	31325430	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	9873904	31325430	46751818	197	95250											
DSEL	92126	broad.mit.edu	37	chr18	65178376	65178376	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtagaggtggcaaacaatAtttggtttaaactagcagga	14	12	11	4	0	0	1	0	0	0	1	0	2	0	2	0	4	3	4	0	4	7	7			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:65178376A>C	ENST00000310045.7	-	2	4973	c.3500T>G	c.(3499-3501)aTa>aGa	p.I1167R	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1157						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGCAAACAATATTTGGTTTAA	0.363													24	70					0	0	0	0	C	65178376	A	C	65178376	3	2	492	1	0	0	0	0	1	0	0	0	4811	449	16	5	172	5	DSEL	18	65178376	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	33852946	65178376	12898872	198	95251											
SALL3	27164	broad.mit.edu	37	chr18	76753744	76753744	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaccgccgagtccccaCagtcgctcctcggcgggccg	4	4	13	20	7	0	0	0	0	0	0	4	1	2	0	7	3	0	1	7	3	0	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:76753744C>T	ENST00000536229.3	+	1	2063	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	SALL3_ENST00000537592.2_Nonsense_Mutation_p.Q585*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.Q585*			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGTCCCCACAGTCGCTCCT	0.746													3	17					0	0	0	0	T	76753744	C	T	76753744	4	4	492	1	0	0	0	0	0	1	0	0	13897	479	17	4	1759	4	SALL3	18	76753744	Nonsense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	11575368	76753744	1323504	199	95252											
ZNF91	7644	broad.mit.edu	37	chr19	23543308	23543308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattctttacatttgtaggGtttctctccagtatgaattg	9	18	7	7	0	2	1	0	1	2	0	4	1	3	1	1	1	1	3	1	1	4	8			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:23543308G>T	ENST00000300619.7	-	4	2678	c.2473C>A	c.(2473-2475)Ccc>Acc	p.P825T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	825						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCCA	0.403													17	71					6.94344e-10	7.67008e-10	1	0	T	23543308	G	T	23543308	3	4	492	1	0	0	0	0	1	0	0	0	18293	1261	44	4	1106	4	ZNF91	19	23543308	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		23543308	35585675	200	95253											
ZNF254	9534	broad.mit.edu	37	chr19	24288852	24288852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgttagagaactacagAaacctggccttcctgggtga	11	10	12	8	0	0	4	0	2	0	2	1	5	1	4	3	2	3	1	3	2	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:24288852A>T	ENST00000357002.4	+	2	256	c.141A>T	c.(139-141)agA>agT	p.R47S	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.R47S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	47	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAACTACAGAAACCTGGCCT	0.368													43	189					0	0	0	0	T	24288852	A	T	24288852	3	4	492	1	0	0	0	0	1	0	0	0	17893	243	9	5	147	5	ZNF254	19	24288852	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	745544	24288852	34840131	201	95254											
ZNF540	163255	broad.mit.edu	37	chr19	38103844	38103844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaaccctatgactgtaaaGaatgtgggaagtcctttagt	14	12	9	6	0	0	2	0	1	0	1	1	3	1	3	2	1	1	1	2	1	8	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:38103844G>A	ENST00000592533.1	+	5	1995	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	ZNF540_ENST00000316433.4_Missense_Mutation_p.E555K|ZNF540_ENST00000589117.1_Missense_Mutation_p.E523K|ZNF540_ENST00000343599.5_Missense_Mutation_p.E555K	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGACTGTAAAGAATGTGGGAA	0.388													9	162					0	0	0	0	A	38103844	G	A	38103844	3	1	492	1	0	0	0	0	1	0	0	0	18070	943	33	2	1677	2	ZNF540	19	38103844	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	13814992	38103844	21025139	202	95255											
ZNF781	163115	broad.mit.edu	37	chr19	38160504	38160504	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagtgttgagcaattatTgaatgctttgccacattcct	11	15	8	7	0	0	2	0	2	0	0	1	2	1	2	2	0	3	4	2	0	4	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:38160504T>C	ENST00000358582.4	-	4	1294	c.546A>G	c.(544-546)tcA>tcG	p.S182S	ZNF781_ENST00000590008.1_Silent_p.S182S|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GAGCAATTATTGAATGCTTTG	0.378													33	153					0	0	0	0	C	38160504	T	C	38160504	2	2	492	1	0	0	0	0	0	0	0	1	18247	1799	63	5		5	ZNF781	19	38160504	Silent	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	56660	38160504	20968479	203	95256											
PSG1	5669	broad.mit.edu	37	chr19	43376172	43376172	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatttaagttgctgctGgagatggagggcttaggagt	8	12	17	4	0	0	1	0	0	0	1	0	5	0	4	0	5	2	4	0	5	2	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:43376172G>T	ENST00000244296.2	-	3	593	c.456C>A	c.(454-456)tcC>tcA	p.S152S	PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Silent_p.S152S|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Silent_p.S152S|PSG1_ENST00000595356.1_Silent_p.S152S	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGTTGCTGCTGGAGATGGAGG	0.507													50	303					9.52127e-25	1.11212e-24	1	0	T	43376172	G	T	43376172	2	4	492	1	0	0	0	0	0	0	0	1	12732	1335	47	4		4	PSG1	19	43376172	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	5215668	43376172	15752811	204	95257											
IGFL3	388555	broad.mit.edu	37	chr19	46627904	46627904	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgcagcatcgtggcctCatgcttccaaagatgctcta	11	10	9	11	1	2	2	1	0	1	2	4	2	3	2	2	1	4	4	2	1	3	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:46627904C>T	ENST00000341415.2	-	1	27	c.3G>A	c.(1-3)atG>atA	p.M1I	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	1						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ATCGTGGCCTCATGCTTCCAA	0.463													19	79					0	0	0	0	T	46627904	C	T	46627904	1	4	492	1	0	0	0	0	0	0	0	0	7641	826	29	2		2	IGFL3	19	46627904	Translation_Start_Site	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	3251732	46627904	12501079	205	95258											
KPTN	11133	broad.mit.edu	37	chr19	47980089	47980089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggccaccaggacttctgGccgcccatccaaatccacat	9	7	9	16	1	1	0	0	0	1	0	3	1	3	1	6	4	0	0	6	4	1	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:47980089G>T	ENST00000338134.3	-	10	1077	c.970C>A	c.(970-972)Cca>Aca	p.P324T	KPTN_ENST00000536339.1_Missense_Mutation_p.P84T	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	324					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGACTTCTGGCCGCCCATCC	0.622													4	7					1.23904e-05	1.2935e-05	1	0	T	47980089	G	T	47980089	3	4	492	1	0	0	0	0	1	0	0	0	8489	1203	42	4	352	4	KPTN	19	47980089	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	1352185	47980089	11148894	206	95259											
SCAF1	58506	broad.mit.edu	37	chr19	50150067	50150067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgctgccccgtctcagggCctggaggacgggcaaaacgg	7	5	15	14	3	1	0	1	0	1	0	2	2	1	2	4	5	3	2	4	5	2	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:50150067C>T	ENST00000360565.3	+	6	582	c.458C>T	c.(457-459)gCc>gTc	p.A153V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	153					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGTCTCAGGGCCTGGAGGACG	0.632													11	11					0	0	0	0	T	50150067	C	T	50150067	3	4	492	1	0	0	0	0	1	0	0	0	13954	739	26	4	476	4	SCAF1	19	50150067	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2169978	50150067	8978916	207	95260											
ZNF611	81856	broad.mit.edu	37	chr19	53208648	53208648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaattctagtatgttttgCcagataggaatgacacgcaa	14	12	9	6	1	1	3	0	2	1	1	1	4	1	4	1	1	1	3	1	1	6	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53208648C>T	ENST00000543227.1	-	6	1934	c.1660G>A	c.(1660-1662)Gca>Aca	p.A554T	ZNF611_ENST00000453741.2_Missense_Mutation_p.A485T|ZNF611_ENST00000595798.1_Missense_Mutation_p.A485T|ZNF611_ENST00000540744.1_Missense_Mutation_p.A554T|ZNF611_ENST00000319783.1_Missense_Mutation_p.A554T|ZNF611_ENST00000602162.1_Missense_Mutation_p.A485T	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A554S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTATGTTTTGCCAGATAGGAA	0.403													5	401					0	0	0	0	T	53208648	C	T	53208648	3	4	492	1	0	0	0	0	1	0	0	0	18132	739	26	4	461	4	ZNF611	19	53208648	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	3058581	53208648	5920335	208	95261											
ZNF415	55786	broad.mit.edu	37	chr19	53611915	53611915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaggcttctctccagtatgGatgacctgatgggtagttaa	10	13	11	7	0	1	2	0	2	1	0	3	3	2	3	2	3	0	4	2	3	4	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53611915G>A	ENST00000455735.2	-	7	1847	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	ZNF415_ENST00000421033.1_Silent_p.I473I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.I461I|ZNF415_ENST00000601493.1_Silent_p.I231I|ZNF415_ENST00000500065.4_Silent_p.I461I|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.I448I|ZNF415_ENST00000448501.1_Silent_p.I509I			Q09FC8	ZN415_HUMAN	zinc finger protein 415	509					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)		CTCCAGTATGGATGACCTGAT	0.438													63	310					0	0	0	0	A	53611915	G	A	53611915	2	1	492	1	0	0	0	0	0	0	0	1	17987	1164	41	2		2	ZNF415	19	53611915	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	403267	53611915	5517068	209	95262											
ZNF415	55786	broad.mit.edu	37	chr19	53612343	53612343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctccaatatgagttttctGatgtagtgcaaggcatgaat	11	14	9	7	0	2	3	0	3	2	0	3	3	2	3	1	1	1	4	1	1	5	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53612343G>C	ENST00000455735.2	-	7	1419	c.1099C>G	c.(1099-1101)Cag>Gag	p.Q367E	ZNF415_ENST00000421033.1_Missense_Mutation_p.Q331E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000601493.1_Missense_Mutation_p.Q89E|ZNF415_ENST00000500065.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.Q306E|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q367E			Q09FC8	ZN415_HUMAN	zinc finger protein 415	367					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)		TGAGTTTTCTGATGTAGTGCA	0.418													28	111					0	0	0	0	C	53612343	G	C	53612343	3	2	492	1	0	0	0	0	1	0	0	0	17987	1299	45	2	716	2	ZNF415	19	53612343	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	428	53612343	5516640	210	95263											
BIRC8	112401	broad.mit.edu	37	chr19	53793208	53793208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaagcgttttatagttgctCccagatgtttgaattctttc	8	18	7	8	1	2	2	1	1	1	1	4	2	3	2	1	0	2	4	1	0	4	7			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53793208C>T	ENST00000426466.1	-	1	1667	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	140					apoptosis		zinc ion binding			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)		TATAGTTGCTCCCAGATGTTT	0.378													38	218					0	0	0	0	T	53793208	C	T	53793208	2	4	492	1	0	0	0	0	0	0	0	1	1445	842	30	2		2	BIRC8	19	53793208	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	180865	53793208	5335775	211	95264											
ZNF331	55422	broad.mit.edu	37	chr19	54081126	54081126	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcacagtggggcgaaaTcctacgaatgtaaggagtgc	14	6	13	8	3	0	0	0	0	0	0	1	3	1	1	1	3	3	2	1	3	5	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54081126T>A	ENST00000253144.9	+	7	2645	c.1312T>A	c.(1312-1314)Tcc>Acc	p.S438T	ZNF331_ENST00000511154.1_Missense_Mutation_p.S438T|ZNF331_ENST00000513999.1_Missense_Mutation_p.S438T|ZNF331_ENST00000512387.1_Missense_Mutation_p.S438T|ZNF331_ENST00000411977.2_Missense_Mutation_p.S438T|ZNF331_ENST00000449416.1_Missense_Mutation_p.S438T|ZNF331_ENST00000511593.2_Missense_Mutation_p.S438T	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGGGCGAAATCCTACGAATG	0.488			T	?	follicular thyroid adenoma								18	32					0	0	0	0	A	54081126	T	A	54081126	3	1	492	1	0	0	0	0	1	0	0	0	17944	1435	50	5	1322	5	ZNF331	19	54081126	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	287918	54081126	5047857	212	95265											
DPRX	503834	broad.mit.edu	37	chr19	54135361	54135361	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacatctggattagaagAtgccaggctcagaggatctt	11	9	12	9	1	3	3	1	0	2	3	3	5	3	5	1	3	1	2	1	3	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54135361A>C	ENST00000376650.1	+	1	52	c.1A>C	c.(1-3)Atg>Ctg	p.M1L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	1						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GGATTAGAAGATGCCAGGCTC	0.502													69	118					0	0	0	0	C	54135361	A	C	54135361	1	2	492	1	0	0	0	0	0	0	0	0	4774	333	12	5		5	DPRX	19	54135361	Translation_Start_Site	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	54235	54135361	4993622	213	95266											
ZNF471	57573	broad.mit.edu	37	chr19	57036677	57036677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtggaaaaaccttcagctCgggttcatcccgtactgtac	9	11	10	11	2	2	0	2	0	0	0	4	1	3	1	2	2	4	4	2	2	4	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:57036677C>T	ENST00000308031.5	+	5	1374	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACCTTCAGCTCGGGTTCATCC	0.413													46	96					0	0	0	0	T	57036677	C	T	57036677	3	4	492	1	0	0	0	0	1	0	0	0	18025	893	31	1	1255	1	ZNF471	19	57036677	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	2901316	57036677	2092306	214	95267											
USP29	57663	broad.mit.edu	37	chr19	57641825	57641825	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgattccctggttctaccCgttgaaccagacaagaatgc	11	10	9	11	1	1	4	0	2	1	2	2	4	2	4	3	1	3	2	3	1	4	4	rs35663514		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:57641825C>A	ENST00000254181.4	+	4	2236	c.1782C>A	c.(1780-1782)ccC>ccA	p.P594P	USP29_ENST00000598197.1_Silent_p.P594P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	594					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTTCTACCCGTTGAACCAG	0.488													37	83					1.57351e-24	1.83041e-24	1	0	A	57641825	C	A	57641825	2	1	492	1	0	0	0	0	0	0	0	1	17155	639	23	3		3	USP29	19	57641825	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	605148	57641825	1487158	215	95268											
ZNF606	80095	broad.mit.edu	37	chr19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttatatggtttctctcccGtgtgagttctctgatgggca	6	16	11	8	1	2	2	0	2	2	0	5	2	3	2	1	2	0	4	1	2	2	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418													94	106					0	0	0	0	A	58490276	G	A	58490276	3	1	492	1	0	0	0	0	1	0	0	0	18127	1145	40	1	610	1	ZNF606	19	58490276	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	848451	58490276	638707	216	95269											
PSMF1	9491	broad.mit.edu	37	chr20	1145041	1145041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgacccttcctcaggcctcCcgaaccgacttcctccaggc	6	9	7	19	2	1	1	1	1	0	0	5	3	5	1	7	2	1	0	7	2	1	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:1145041C>T	ENST00000335877.6	+	6	861	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	PSMF1_ENST00000246015.4_Missense_Mutation_p.P229S|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.P229S|PSMF1_ENST00000438768.2_Missense_Mutation_p.P167S|PSMF1_ENST00000381898.4_Missense_Mutation_p.P141S	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	229	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CTCAGGCCTCCCGAACCGACT	0.582													68	451					0	0	0	0	T	1145041	C	T	1145041	3	4	492	1	0	0	0	0	1	0	0	0	12789	623	22	4	707	4	PSMF1	20	1145041	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08		1145041	61880479	217	95270											
SERINC3	10955	broad.mit.edu	37	chr20	43129789	43129789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaataaggagtagctaTactgcactccctctttctcg	9	12	10	10	1	2	0	0	0	2	0	4	2	3	2	1	3	3	3	1	3	5	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:43129789T>C	ENST00000342374.4	-	9	1365	c.1208A>G	c.(1207-1209)tAt>tGt	p.Y403C	SERINC3_ENST00000255175.1_Missense_Mutation_p.Y403C|SERINC3_ENST00000541235.1_Missense_Mutation_p.Y348C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	403						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGAGTAGCTATACTGCACTCC	0.512													58	44					0	0	0	0	C	43129789	T	C	43129789	3	2	492	1	0	0	0	0	1	0	0	0	14168	1406	49	5	221	5	SERINC3	20	43129789	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	41984748	43129789	19895731	218	95271											
MOCS3	27304	broad.mit.edu	37	chr20	49575387	49575387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaagaggtcgccatggcttCccgggaggaggtactcgcct	7	7	16	11	3	0	1	0	0	0	1	3	4	1	4	3	6	1	2	3	6	2	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:49575387C>T	ENST00000244051.1	+	1	25	c.8C>T	c.(7-9)tCc>tTc	p.S3F		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	3					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GCCATGGCTTCCCGGGAGGAG	0.522													25	69					0	0	0	0	T	49575387	C	T	49575387	3	4	492	1	0	0	0	0	1	0	0	0	9762	855	30	2	10	2	MOCS3	20	49575387	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	6445598	49575387	13450133	219	95272											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-																															cagcctcaccttgcgcaccaCctcctcctcctcctggcgct																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gtg>g	p.EV547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													8	219	---	---	---	---					-	61833652	CCT	-	61833650	7	5	492	1	0	1	0	1	0	0	0	0	17594	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-UF-A71A-01A-22D-A34J-08	12258263	61833650	1191870	220	95273											
APP	351	broad.mit.edu	37	chr21	27284224	27284224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttggttcactaatcaTgttggccaagacgtcatctg	9	13	9	10	1	4	1	3	0	1	1	5	2	5	1	2	2	0	2	2	2	2	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:27284224T>C	ENST00000358918.3	-	14	1937	c.1738A>G	c.(1738-1740)Atg>Gtg	p.M580V	APP_ENST00000448388.2_Missense_Mutation_p.M470V|APP_ENST00000440126.3_Missense_Mutation_p.M556V|APP_ENST00000354192.3_Missense_Mutation_p.M449V|APP_ENST00000348990.5_Missense_Mutation_p.M505V|APP_ENST00000357903.3_Missense_Mutation_p.M561V|APP_ENST00000346798.3_Missense_Mutation_p.M580V|APP_ENST00000439274.2_Missense_Mutation_p.M524V|APP_ENST00000359726.3_Missense_Mutation_p.M524V	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	580					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCACTAATCATGTTGGCCAAG	0.443													79	49					0	0	0	0	C	27284224	T	C	27284224	3	2	492	1	0	0	0	0	1	0	0	0	817	1464	51	5	594	5	APP	21	27284224	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08		27284224	20845671	221	95274											
RSPH1	89765	broad.mit.edu	37	chr21	43897434	43897434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcgtcttggccaggtccatCcgtagaggtcggctttttgg	5	12	14	10	3	1	1	0	0	1	1	4	1	3	1	3	5	1	2	3	5	1	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:43897434C>T	ENST00000291536.3	-	7	861	c.694G>A	c.(694-696)Gat>Aat	p.D232N	RSPH1_ENST00000398352.3_Missense_Mutation_p.D194N	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	232					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCAGGTCCATCCGTAGAGGTC	0.597													25	47					0	0	0	0	T	43897434	C	T	43897434	3	4	492	1	0	0	0	0	1	0	0	0	13787	855	30	2	247	2	RSPH1	21	43897434	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	16613210	43897434	4232461	222	95275											
MCM3AP	8888	broad.mit.edu	37	chr21	47662744	47662744	+	Missense_Mutation	SNP	G	G	T																															tctcagctgtagctccttctGcgtctgcaacctggcttgtt																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:47662744G>T	ENST00000397708.1	-	26	5652	c.5398C>A	c.(5398-5400)Cag>Aag	p.Q1800K	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q1800K|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1800					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCTCCTTCTGCGTCTGCAAC	0.393													7	96					0.00198382	0.00202648	1	0	T	47662744	G	T	47662744	3	4	492	1	0	0	0	0	1	0	0	0	9457	1328	46	4	560	4	MCM3AP	21	47662744	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	3765310	47662744	467151	223	95276	1136	2									
MCM3AP	8888	broad.mit.edu	37	chr21	47662745	47662745	+	Silent	SNP	C	C	T																															ctcagctgtagctccttctgCgtctgcaacctggcttgttc																										TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:47662745C>T	ENST00000397708.1	-	26	5651	c.5397G>A	c.(5395-5397)acG>acA	p.T1799T	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.T1799T|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1799					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCTCCTTCTGCGTCTGCAACC	0.393													7	96					0	0	0	0	T	47662745	C	T	47662745	2	4	492	1	0	0	0	0	0	0	0	1	9457	755	27	1		1	MCM3AP	21	47662745	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	1	47662745	467150	224	95277	1136	2									
PPM1F	9647	broad.mit.edu	37	chr22	22279896	22279896	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccacactcgaggcctgggcTtccgagagaccttctcccac	7	7	10	17	2	1	1	0	0	1	1	4	4	2	1	5	2	0	1	5	2	0	2			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:22279896T>A	ENST00000397495.4	-	7	1130	c.1031A>T	c.(1030-1032)aAg>aTg	p.K344M	PPM1F_ENST00000538191.1_Intron|PPM1F_ENST00000263212.5_Intron|PPM1F_ENST00000407142.1_Intron			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	0					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGGCCTGGGCTTCCGAGAGAC	0.632													12	41					0	0	0	0	A	22279896	T	A	22279896	3	1	492	1	0	0	0	0	1	0	0	0	12415	1624	56	5		5	PPM1F	22	22279896	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08		22279896	29024670	225	95278											
PIWIL3	440822	broad.mit.edu	37	chr22	25119107	25119107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggcttaccattcattccTagtcaactctacatcaataa	12	13	5	11	0	4	0	3	0	1	0	5	0	5	0	2	2	3	1	2	2	6	6			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:25119107T>C	ENST00000332271.5	-	19	2790	c.2374A>G	c.(2374-2376)Agg>Ggg	p.R792G	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674G|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674G	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	792	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTCATTCCTAGTCAACTCT	0.343													4	149					0	0	0	0	C	25119107	T	C	25119107	3	2	492	1	0	0	0	0	1	0	0	0	12031	1521	53	5	286	5	PIWIL3	22	25119107	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	2839211	25119107	26185459	226	95279											
ZNRF3	84133	broad.mit.edu	37	chr22	29445592	29445592	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccagcactactacttcCagggcctcagctacccggag	9	8	9	15	1	1	0	1	0	0	0	2	1	2	1	4	2	6	3	4	2	4	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:29445592C>T	ENST00000544604.2	+	8	1598	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q375*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	475						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTACTACTTCCAGGGCCTCAG	0.667													9	78					0	0	0	0	T	29445592	C	T	29445592	4	4	492	1	0	0	0	0	0	1	0	0	18306	595	21	4	1149	4	ZNRF3	22	29445592	Nonsense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	4326485	29445592	21858974	227	95280											
DCAF8L1	139425	broad.mit.edu	37	chrX	27997958	27997958	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgctgatctaggccactGgtcgccaacacaggtaggta	11	8	11	11	1	1	1	0	1	1	0	2	1	1	1	2	4	2	3	2	4	4	3			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:27997958G>T	ENST00000441525.1	-	1	1608	c.1494C>A	c.(1492-1494)acC>acA	p.T498T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	498										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						CTAGGCCACTGGTCGCCAACA	0.493													11	24					0.00829132	0.00840934	1	0	T	27997958	G	T	27997958	2	4	492	1	0	0	0	0	0	0	0	1	4310	1335	47	4		4	DCAF8L1	23	27997958	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08		27997958	127272602	228	95281											
ITM2A	9452	broad.mit.edu	37	chrX	78618173	78618173	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttccccagcaacaagtccaGgtaagcagtcattccctgtt	10	10	8	13	0	1	0	1	0	0	0	4	0	4	0	4	1	3	5	4	1	3	4			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:78618173G>C	ENST00000434584.2	-	3	661	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	ITM2A_ENST00000373298.2_Missense_Mutation_p.L153V|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	153						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACAAGTCCAGGTAAGCAGTC	0.438													27	5					0	0	0	0	C	78618173	G	C	78618173	3	2	492	1	0	0	0	0	1	0	0	0	7965	991	35	4	346	4	ITM2A	23	78618173	Missense_Mutation	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	50620215	78618173	76652387	229	95282											
FAM46D	169966	broad.mit.edu	37	chrX	79698545	79698545	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcactcagacggcagttTgaatttagtgtagattcctt	10	15	9	7	1	2	3	2	1	0	2	3	3	3	3	1	1	0	4	1	1	3	7			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:79698545T>A	ENST00000538312.1	+	5	841	c.507T>A	c.(505-507)ttT>ttA	p.F169L	FAM46D_ENST00000308293.5_Missense_Mutation_p.F169L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	169										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GACGGCAGTTTGAATTTAGTG	0.378													50	16					0	0	0	0	A	79698545	T	A	79698545	3	1	492	1	0	0	0	0	1	0	0	0	5615	1809	63	5	509	5	FAM46D	23	79698545	Missense_Mutation	SNP	T	TCGA-UF-A71A-01A-22D-A34J-08	1080372	79698545	75572015	230	95283											
KIAA1210	57481	broad.mit.edu	37	chrX	118220813	118220813	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataggtttgcatgctggttAttattaccatcaccactctc	9	15	7	10	0	2	0	1	0	1	0	3	1	2	0	2	2	3	4	2	2	4	5			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:118220813A>T	ENST00000402510.2	-	11	4379	c.4380T>A	c.(4378-4380)aaT>aaA	p.N1460K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1460										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CATGCTGGTTATTATTACCAT	0.443													20	36					0	0	0	0	T	118220813	A	T	118220813	3	4	492	1	0	0	0	0	1	0	0	0	8265	446	16	5	765	5	KIAA1210	23	118220813	Missense_Mutation	SNP	A	TCGA-UF-A71A-01A-22D-A34J-08	38522268	118220813	37049747	231	95284											
LDOC1	23641	broad.mit.edu	37	chrX	140271069	140271069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaccgggcagctcggCggacgtacctggcgcagcag	8	3	17	13	5	0	0	0	0	0	0	1	1	0	1	2	5	3	6	2	5	2	1			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:140271069C>T	ENST00000370526.2	-	1	241	c.138G>A	c.(136-138)ccG>ccA	p.P46P	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	46					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GGCAGCTCGGCGGACGTACCT	0.642													37	8					0	0	0	0	T	140271069	C	T	140271069	2	4	492	1	0	0	0	0	0	0	0	1	8762	755	27	1		1	LDOC1	23	140271069	Silent	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	22050256	140271069	14999491	232	95285											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													7	131					0	0	0	0	A	150156360	G	A	150156360	2	1	492	1	0	0	0	0	0	0	0	1	7277	991	35	4		4	HMGB3	23	150156360	Silent	SNP	G	TCGA-UF-A71A-01A-22D-A34J-08	9885291	150156360	5114200	233	95286											
ARHGAP4	393	broad.mit.edu	37	chrX	153176046	153176046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctcacgtgctccaccctCtccgctgtggcctccagctc	3	9	9	20	3	2	0	1	0	1	0	6	0	4	0	5	2	2	4	5	2	0	0			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:153176046C>G	ENST00000370028.3	-	17	2013	c.1956G>C	c.(1954-1956)gaG>gaC	p.E652D	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E589D|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E591D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E434D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.E612D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	612	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					GCTCCACCCTCTCCGCTGTGG	0.701													9	9					0	0	0	0	G	153176046	C	G	153176046	3	3	492	1	0	0	0	0	1	0	0	0	887	912	32	2	1032	2	ARHGAP4	23	153176046	Missense_Mutation	SNP	C	TCGA-UF-A71A-01A-22D-A34J-08	3019686	153176046	2094514	234	95287											
NPHP4	261734	broad.mit.edu	37	chr1	5934609	5934609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgtgggggcgcaggtaGagctggggggccaggctgcc	4	6	21	10	2	1	1	0	0	1	1	2	1	1	1	2	7	2	4	2	7	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:5934609G>T	ENST00000378156.4	-	22	3418	c.3153C>A	c.(3151-3153)ctC>ctA	p.L1051L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1051					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCAGGTAGAGCTGGGGGG	0.657													5	17					0.184627	0.185506	1	0	T	5934609	G	T	5934609	2	4	493	1	0	0	0	0	0	0	0	1	10651	929	33	2		2	NPHP4	1	5934609	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		5934609	243316012	1	95288											
HSPG2	3339	broad.mit.edu	37	chr1	22170647	22170647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccagctcctttacctggtgCcgggcagggaggtttcctcc	4	11	12	14	1	0	0	0	0	0	0	4	1	4	1	6	4	3	3	6	4	1	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:22170647C>T	ENST00000374695.3	-	65	8689	c.8610G>A	c.(8608-8610)cgG>cgA	p.R2870R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2870	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTACCTGGTGCCGGGCAGGGA	0.627													4	103					0	0	0	0	T	22170647	C	T	22170647	2	4	493	1	0	0	0	0	0	0	0	1	7483	726	26	4		4	HSPG2	1	22170647	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	16236038	22170647	227079974	2	95289											
COL16A1	1307	broad.mit.edu	37	chr1	32148570	32148570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggccccaggaggtcccaCaggtccggtggctcctttca	6	8	12	15	1	1	0	1	0	0	0	4	1	4	1	5	6	0	1	5	6	0	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:32148570C>T	ENST00000373672.3	-	37	3019	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M	COL16A1_ENST00000271069.6_Missense_Mutation_p.V834M|COL16A1_ENST00000373668.3_Missense_Mutation_p.V835M	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	835	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGAGGTCCCACAGGTCCGGTG	0.567													15	58					0	0	0	0	T	32148570	C	T	32148570	3	4	493	1	0	0	0	0	1	0	0	0	3703	478	17	4	2451	4	COL16A1	1	32148570	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	9977923	32148570	217102051	3	95290											
ZCCHC11	23318	broad.mit.edu	37	chr1	52901042	52901042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcagagtacttacacattCtgatgactgtctagtcctta	11	13	8	9	0	2	3	0	2	2	1	3	3	3	3	1	1	2	2	1	1	4	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:52901042C>T	ENST00000371544.3	-	27	4517	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1420K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1419	Gln-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTTACACATTCTGATGACTGT	0.453													5	80					0	0	0	0	T	52901042	C	T	52901042	3	4	493	1	0	0	0	0	1	0	0	0	17675	922	32	2	695	2	ZCCHC11	1	52901042	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	20752472	52901042	196349579	4	95291											
DAB1	1600	broad.mit.edu	37	chr1	57480848	57480848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacggtggcaaggggggtGaggggaccttggaacatggc	8	5	22	6	1	0	1	0	1	0	0	0	4	0	4	1	10	1	1	1	10	2	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:57480848G>A	ENST00000371236.2	-	12	1415	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	DAB1_ENST00000420954.2_Silent_p.L382L|DAB1_ENST00000371231.1_Silent_p.L417L|DAB1_ENST00000414851.2_Silent_p.L366L|DAB1_ENST00000439789.2_Silent_p.L298L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.L384L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	417					cell differentiation|nervous system development					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						CAAGGGGGGTGAGGGGACCTT	0.587													36	79					0	0	0	0	A	57480848	G	A	57480848	2	1	493	1	0	0	0	0	0	0	0	1	4250	1277	45	2		2	DAB1	1	57480848	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	4579806	57480848	191769773	5	95292											
ZRANB2	9406	broad.mit.edu	37	chr1	71532495	71532495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttgttcgtctttttttgCgatcaccagatgaagaagat	10	16	8	7	2	3	4	1	1	2	3	4	5	3	4	1	0	1	1	1	0	2	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:71532495C>T	ENST00000370920.3	-	9	1194	c.893G>A	c.(892-894)cGc>cAc	p.R298H	ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2_ENST00000477096.1_5'UTR|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R298H|ZRANB2-AS1_ENST00000450461.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	298	Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTTTTTTTGCGATCACCAGA	0.388													4	165					0	0	0	0	T	71532495	C	T	71532495	3	4	493	1	0	0	0	0	1	0	0	0	18316	768	27	1	145	1	ZRANB2	1	71532495	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	14051647	71532495	177718126	6	95293											
RPTN	126638	broad.mit.edu	37	chr1	152128693	152128693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtccgtctgaccgtaGtgggaactctggccttgtct	4	14	12	11	2	4	1	0	1	4	0	5	2	5	2	3	2	1	1	3	2	2	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:152128693G>A	ENST00000316073.3	-	3	946	c.882C>T	c.(880-882)caC>caT	p.H294H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	294	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGACCGTAGTGGGAACTCT	0.498													187	548					0	0	0	0	A	152128693	G	A	152128693	2	1	493	1	0	0	0	0	0	0	0	1	13749	1020	36	4		4	RPTN	1	152128693	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	80596198	152128693	97121928	7	95294											
HMCN1	83872	broad.mit.edu	37	chr1	185958709	185958709	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggaggagaggagagTggggagtatgtctgcactgc	9	8	17	7	0	2	2	1	0	1	2	2	6	2	4	1	5	2	2	1	5	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:185958709T>C	ENST00000271588.4	+	21	3367	c.3138T>C	c.(3136-3138)agT>agC	p.S1046S	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.S1046S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1046	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAGGAGAGTGGGGAGTATG	0.488													35	69					0	0	0	0	C	185958709	T	C	185958709	2	2	493	1	0	0	0	0	0	0	0	1	7270	1693	59	5		5	HMCN1	1	185958709	Silent	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	33830016	185958709	63291912	8	95295											
LAMB3	3914	broad.mit.edu	37	chr1	209803174	209803174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccttcggtgtggtccCggcaattgtcacacacacct	6	12	9	14	2	2	0	1	0	1	0	4	0	3	0	3	3	1	1	3	3	1	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:209803174C>T	ENST00000391911.1	-	9	1429	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	LAMB3_ENST00000356082.4_Missense_Mutation_p.R347Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R347Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	347	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGTGGTCCCGGCAATTGTC	0.592													5	178					0	0	0	0	T	209803174	C	T	209803174	3	4	493	1	0	0	0	0	1	0	0	0	8665	652	23	1	2534	1	LAMB3	1	209803174	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	23844465	209803174	39447447	9	95296											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209953904	209953904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaagactgggatctcagaGaccagctgcaaaagaagact	17	5	11	8	0	1	5	1	0	1	5	2	7	1	6	1	1	2	2	1	1	4	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:209953904G>C	ENST00000367024.1	+	15	1918	c.1402G>C	c.(1402-1404)Gac>Cac	p.D468H	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D448H|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D468H|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D448H			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	468						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGATCTCAGAGACCAGCTGCA	0.507													60	78					0	0	0	0	C	209953904	G	C	209953904	3	2	493	1	0	0	0	0	1	0	0	0	16537	942	33	2	1452	2	TRAF3IP3	1	209953904	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	150730	209953904	39296717	10	95297											
USH2A	7399	broad.mit.edu	37	chr1	216251525	216251525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaccagtggctggtctccGgactccgatgcatgcttcat	7	10	10	14	2	2	0	1	0	1	0	4	2	3	1	4	3	2	3	4	3	0	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:216251525G>A	ENST00000366943.2	-	27	5864	c.5478C>T	c.(5476-5478)tcC>tcT	p.S1826S	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.S1826S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1826	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGGTCTCCGGACTCCGATG	0.418										HNSCC(13;0.011)			30	290					0	0	0	0	A	216251525	G	A	216251525	2	1	493	1	0	0	0	0	0	0	0	1	17132	1103	39	1		1	USH2A	1	216251525	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	6297621	216251525	32999096	11	95298											
OR2W3	343171	broad.mit.edu	37	chr1	248059008	248059008	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgtacctcctgaccctcgtAggcaacaccaccatcatcct	9	8	6	18	2	1	1	1	1	0	0	4	1	3	1	6	1	2	3	6	1	3	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:248059008A>C	ENST00000537741.1	+	3	377	c.120A>C	c.(118-120)gtA>gtC	p.V40V	OR2W3_ENST00000360358.3_Silent_p.V40V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGACCCTCGTAGGCAACACCA	0.572													91	167					0	0	0	0	C	248059008	A	C	248059008	2	2	493	1	0	0	0	0	0	0	0	1	11104	407	15	5		5	OR2W3	1	248059008	Silent	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	31807483	248059008	1191613	12	95299											
APOB	338	broad.mit.edu	37	chr2	21228981	21228981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagagttccagggtggCtttgcttgtatgttctccgt	5	15	14	7	1	1	1	0	0	1	1	3	3	2	2	2	3	1	5	2	3	1	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:21228981C>T	ENST00000233242.1	-	26	10886	c.10759G>A	c.(10759-10761)Gcc>Acc	p.A3587T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3587					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCAGGGTGGCTTTGCTTGTA	0.502													14	93					0	0	0	0	T	21228981	C	T	21228981	3	4	493	1	0	0	0	0	1	0	0	0	787	797	28	4	2948	4	APOB	2	21228981	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08		21228981	221970392	13	95300											
MOGS	7841	broad.mit.edu	37	chr2	74689354	74689354	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaacctctagcataTgggctacaggcaaaagtagg	13	7	11	10	0	2	0	1	0	1	0	2	0	2	0	2	4	3	4	2	4	7	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:74689354T>G	ENST00000233616.4	-	4	1724	c.1562A>C	c.(1561-1563)cAt>cCt	p.H521P	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.H415P	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	521					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTCTAGCATATGGGCTACAGG	0.602													11	94					0	0	0	0	G	74689354	T	G	74689354	3	3	493	1	0	0	0	0	1	0	0	0	9767	1464	51	5	955	5	MOGS	2	74689354	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	53460373	74689354	168510019	14	95301											
GALNT13	114805	broad.mit.edu	37	chr2	154996991	154996991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatttgattgcccttaataGaagtctgccagatgtaagat	12	14	9	6	0	1	5	0	2	1	3	1	5	1	5	2	0	2	1	2	0	4	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:154996991G>A	ENST00000392825.3	+	4	851	c.284G>A	c.(283-285)aGa>aAa	p.R95K	GALNT13_ENST00000409237.1_Missense_Mutation_p.R95K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	95						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCCCTTAATAGAAGTCTGCCA	0.328													24	97					0	0	0	0	A	154996991	G	A	154996991	3	1	493	1	0	0	0	0	1	0	0	0	6260	942	33	2	290	2	GALNT13	2	154996991	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	80307637	154996991	88202382	15	95302											
COBLL1	22837	broad.mit.edu	37	chr2	165555991	165555991	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccattgcttgtatcataTactacactgtgtggttctct	7	19	6	9	0	2	0	1	0	1	0	4	0	3	0	1	1	3	3	1	1	4	8			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:165555991T>C	ENST00000375458.2	-	10	1700	c.1479A>G	c.(1477-1479)gtA>gtG	p.V493V	COBLL1_ENST00000409184.3_Silent_p.V531V|COBLL1_ENST00000194871.6_Silent_p.V598V|COBLL1_ENST00000392717.2_Silent_p.V570V|COBLL1_ENST00000342193.4_Silent_p.V532V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	570										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTGTATCATATACTACACTGT	0.373													48	164					0	0	0	0	C	165555991	T	C	165555991	2	2	493	1	0	0	0	0	0	0	0	1	3684	1393	49	5		5	COBLL1	2	165555991	Silent	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	10559000	165555991	77643382	16	95303											
XIRP2	129446	broad.mit.edu	37	chr2	168102545	168102545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagaaaagatagaaattaTtggcaagagcattaaagaaa	22	8	9	2	0	0	5	0	0	0	5	0	5	0	5	0	1	1	3	0	1	10	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:168102545T>C	ENST00000409195.1	+	9	4732	c.4643T>C	c.(4642-4644)aTt>aCt	p.I1548T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I1326T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1548T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1373					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAGAAATTATTGGCAAGAGC	0.368													9	112					0	0	0	0	C	168102545	T	C	168102545	3	2	493	1	0	0	0	0	1	0	0	0	17526	1493	52	5	4673	5	XIRP2	2	168102545	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	2546554	168102545	75096828	17	95304											
LRP2	4036	broad.mit.edu	37	chr2	170090032	170090032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggctcgcataacccgacGagtagcacggtcagtccagt	9	8	12	12	4	1	0	1	0	0	0	3	2	2	0	2	2	2	5	2	2	2	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:170090032G>T	ENST00000263816.3	-	30	5272	c.4987C>A	c.(4987-4989)Cgt>Agt	p.R1663S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1663					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAACCCGACGAGTAGCACGG	0.493													20	73					3.62473e-10	3.94236e-10	1	0	T	170090032	G	T	170090032	3	4	493	1	0	0	0	0	1	0	0	0	9020	1058	37	3	9180	3	LRP2	2	170090032	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	1987487	170090032	73109341	18	95305											
KLHL23	151230	broad.mit.edu	37	chr2	170598008	170598008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagagctacaattccgatAtcaacgaatggagcctcatc	13	10	7	11	2	3	1	3	0	0	1	5	4	4	2	2	1	4	1	2	1	5	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:170598008A>G	ENST00000392647.2	+	3	1571	c.1327A>G	c.(1327-1329)Atc>Gtc	p.I443V	KLHL23_ENST00000602521.1_5'UTR|KLHL23_ENST00000272797.4_Missense_Mutation_p.I443V	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	443										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAATTCCGATATCAACGAATG	0.428													37	133					0	0	0	0	G	170598008	A	G	170598008	3	3	493	1	0	0	0	0	1	0	0	0	8430	449	16	5	1333	5	KLHL23	2	170598008	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	507976	170598008	72601365	19	95306											
GAD1	2571	broad.mit.edu	37	chr2	171693381	171693381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatggctgacatcaacggCcaataccaacatgtaagtct	15	8	8	10	1	2	2	1	1	1	1	2	2	2	2	2	2	3	2	2	2	6	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:171693381C>T	ENST00000358196.3	+	6	1176	c.626C>T	c.(625-627)gCc>gTc	p.A209V	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.A209V|GAD1_ENST00000344257.5_Missense_Mutation_p.A209V	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	209					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACATCAACGGCCAATACCAAC	0.403													39	79					0	0	0	0	T	171693381	C	T	171693381	3	4	493	1	0	0	0	0	1	0	0	0	6227	739	26	4	644	4	GAD1	2	171693381	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	1095373	171693381	71505992	20	95307											
DCAF17	80067	broad.mit.edu	37	chr2	172305291	172305291	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaactacgggaaaaatccTtgagaaaatatatcttgcac	17	9	7	8	1	1	1	0	1	1	1	2	3	2	2	1	1	4	2	1	1	8	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:172305291T>C	ENST00000375255.3	+	4	749	c.422T>C	c.(421-423)cTt>cCt	p.L141P	DCAF17_ENST00000539783.1_Missense_Mutation_p.L141P|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	141						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGAAAAATCCTTGAGAAAATA	0.333													66	229					0	0	0	0	C	172305291	T	C	172305291	3	2	493	1	0	0	0	0	1	0	0	0	4302	1609	56	5	436	5	DCAF17	2	172305291	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	611910	172305291	70894082	21	95308											
NFE2L2	4780	broad.mit.edu	37	chr2	178098807	178098807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgggagaaattcacctgTctcttcatctagttgtaact	11	15	7	8	0	4	1	2	0	2	1	5	2	4	1	1	1	1	2	1	1	4	6			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:178098807T>C	ENST00000397062.3	-	2	792	c.238A>G	c.(238-240)Aca>Gca	p.T80A	NFE2L2_ENST00000397063.4_Missense_Mutation_p.T64A|NFE2L2_ENST00000446151.2_Missense_Mutation_p.T64A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.T64A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.T64A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	80					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T80P(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATTCACCTGTCTCTTCATCT	0.438			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			30	261					0	0	0	0	C	178098807	T	C	178098807	3	2	493	1	0	0	0	0	1	0	0	0	10438	1667	58	5	1595	5	NFE2L2	2	178098807	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	5793516	178098807	65100566	22	95309											
CPO	130749	broad.mit.edu	37	chr2	207825638	207825638	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgttttgggacggatctCaatcgaaatttcaatgcatc	12	13	8	8	2	2	0	2	0	1	0	5	3	2	2	0	2	1	2	0	2	3	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:207825638C>A	ENST00000272852.3	+	6	592	c.546C>A	c.(544-546)ctC>ctA	p.L182L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	182					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GGACGGATCTCAATCGAAATT	0.388													52	180					3.84483e-29	4.40902e-29	1	0	A	207825638	C	A	207825638	2	1	493	1	0	0	0	0	0	0	0	1	3850	813	29	2		2	CPO	2	207825638	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	29726831	207825638	35373735	23	95310											
PIKFYVE	200576	broad.mit.edu	37	chr2	209188978	209188978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacatgttattggaacatgGcattactttggtcattaatg	11	15	10	5	0	1	0	1	0	0	0	1	2	1	2	0	4	2	2	0	4	4	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:209188978G>T	ENST00000264380.4	+	18	2461	c.2303G>T	c.(2302-2304)gGc>gTc	p.G768V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	768					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGGAACATGGCATTACTTTG	0.348													59	160					4.09106e-26	4.66602e-26	1	0	T	209188978	G	T	209188978	3	4	493	1	0	0	0	0	1	0	0	0	11996	1203	42	4	2380	4	PIKFYVE	2	209188978	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	1363340	209188978	34010395	24	95311											
CUL3	8452	broad.mit.edu	37	chr2	225379381	225379381	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatatccaatagagtttGccgtagatgatccctaatac	14	12	6	9	1	1	3	1	1	0	2	3	3	3	3	3	0	2	2	3	0	7	6			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:225379381G>A	ENST00000264414.4	-	4	825	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q97*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q139*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	163					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AATAGAGTTTGCCGTAGATGA	0.353													26	96					0	0	0	0	A	225379381	G	A	225379381	4	1	493	1	0	0	0	0	0	1	0	0	4088	1328	46	4	1871	4	CUL3	2	225379381	Nonsense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	16190403	225379381	17819992	25	95312											
FYCO1	79443	broad.mit.edu	37	chr3	46000054	46000054	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctcctttttgccaccGtgcttgctcaggacgtagtt	5	13	10	13	3	1	0	1	0	0	0	2	1	2	1	3	1	4	5	3	1	1	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:46000054G>A	ENST00000438446.1	-	0	99				FYCO1_ENST00000535325.1_Silent_p.H1215H|FYCO1_ENST00000296137.2_Silent_p.H1215H			Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1						transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTTGCCACCGTGCTTGCTCA	0.562													29	52					0	0	0	0	A	46000054	G	A	46000054	1	1	493	1	0	0	0	0	0	0	0	0	6173	1136	40	1		1	FYCO1	3	46000054	Translation_Start_Site	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		46000054	152022376	26	95313											
AGTR1	185	broad.mit.edu	37	chr3	148459459	148459459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttttctgatcattcttAcaagttatactcttatttgg	8	21	4	8	0	4	1	1	1	3	0	5	1	5	1	1	1	2	1	1	1	5	9			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:148459459A>G	ENST00000542281.1	+	4	1083	c.637A>G	c.(637-639)Aca>Gca	p.T213A	AGTR1_ENST00000404754.2_Missense_Mutation_p.T213A|AGTR1_ENST00000497524.1_Missense_Mutation_p.T213A|AGTR1_ENST00000349243.3_Missense_Mutation_p.T213A|AGTR1_ENST00000461609.1_Missense_Mutation_p.T213A|AGTR1_ENST00000418473.2_Missense_Mutation_p.T213A|AGTR1_ENST00000475347.1_Missense_Mutation_p.T213A|AGTR1_ENST00000402260.1_Missense_Mutation_p.T213A|AGTR1_ENST00000474935.1_Missense_Mutation_p.T213A	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	213					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GATCATTCTTACAAGTTATAC	0.363													4	102					0	0	0	0	G	148459459	A	G	148459459	3	3	493	1	0	0	0	0	1	0	0	0	401	391	14	5	639	5	AGTR1	3	148459459	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	102459405	148459459	49562971	27	95314											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			25	84					0	0	0	0	A	178936082	G	A	178936082	3	1	493	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	30476623	178936082	19086348	28	95315											
EPHB3	2049	broad.mit.edu	37	chr3	184294876	184294876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgctggcccacacgcGctacacctttgaggtgcagg	7	8	11	15	2	1	1	0	1	1	0	1	1	1	1	3	3	3	3	3	3	1	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:184294876G>A	ENST00000330394.2	+	5	1711	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	420	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCCACACGCGCTACACCTTT	0.627													10	104					0	0	0	0	A	184294876	G	A	184294876	3	1	493	1	0	0	0	0	1	0	0	0	5214	1087	38	1	1277	1	EPHB3	3	184294876	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	5358794	184294876	13727554	29	95316											
ZNF718	255403	broad.mit.edu	37	chr4	155026	155026	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatcatttcacgtgctctCacgcctaactcaacacaaaa	15	9	3	14	2	4	0	4	0	1	0	5	0	4	0	1	0	3	1	1	0	5	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:155026C>G	ENST00000510175.1	+	0	461							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CACGTGCTCTCACGCCTAACT	0.333													13	17					0	0	0	0	G	155026	C	G	155026	1	3	493	0	1	0	0	0	0	0	0	0	18215	838	29	2		2	ZNF718	4	155026	RNA	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08		155026	190999250	30	95317											
CC2D2A	57545	broad.mit.edu	37	chr4	15529187	15529187	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcatccctgttttagcCgagagcatgttttggcagcc	7	13	9	12	1	2	1	2	0	0	1	3	2	3	1	3	1	3	4	3	1	1	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:15529187C>T	ENST00000424120.1	+	12	1521	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.R423*|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Nonsense_Mutation_p.R423*|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.R374*			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	423					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTGTTTTAGCCGAGAGCATGT	0.443													7	22					0	0	0	0	T	15529187	C	T	15529187	4	4	493	1	0	0	0	0	0	1	0	0	2753	644	23	1	1512	1	CC2D2A	4	15529187	Nonsense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	15374161	15529187	175625089	31	95318											
GABRA4	2557	broad.mit.edu	37	chr4	46979462	46979462	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtaccatttctcataatTctaaaaagcttatttggagc	14	15	5	7	0	2	0	1	0	2	0	3	1	2	1	1	1	3	2	1	1	7	8			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:46979462T>C	ENST00000264318.3	-	4	1441	c.459A>G	c.(457-459)agA>agG	p.R153R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	153					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTCATAATTCTAAAAAGCT	0.313													22	32					0	0	0	0	C	46979462	T	C	46979462	2	2	493	1	0	0	0	0	0	0	0	1	6211	1780	62	5		5	GABRA4	4	46979462	Silent	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	31450275	46979462	144174814	32	95319											
ATP10D	57205	broad.mit.edu	37	chr4	47559834	47559834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacgcctttgtgagcagaCtccctctctttagtcgaatg	9	12	8	12	2	1	2	0	1	1	1	4	3	2	2	2	0	2	1	2	0	3	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:47559834C>T	ENST00000273859.3	+	12	2247	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	660					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGAGCAGACTCCCTCTCTT	0.517													29	108					0	0	0	0	T	47559834	C	T	47559834	3	4	493	1	0	0	0	0	1	0	0	0	1122	565	20	4	2020	4	ATP10D	4	47559834	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	580372	47559834	143594442	33	95320											
UGT2B10	7365	broad.mit.edu	37	chr4	69692180	69692180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccttaggtctcaatactcGactgtacaagtggatacccc	10	11	8	12	1	1	0	1	0	1	0	3	2	1	1	3	2	4	1	3	2	6	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:69692180G>A	ENST00000265403.7	+	4	1079	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R267Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	351					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTCAATACTCGACTGTACAAG	0.383													6	170					0	0	0	0	A	69692180	G	A	69692180	3	1	493	1	0	0	0	0	1	0	0	0	17052	1058	37	1	1066	1	UGT2B10	4	69692180	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	22132346	69692180	121462096	34	95321											
RCHY1	25898	broad.mit.edu	37	chr4	76439452	76439452	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgcagccccgctgaccTcgctcttgaccgctggcgcc	3	8	11	19	5	1	2	0	2	1	0	3	2	1	2	5	1	2	5	5	1	0	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:76439452T>G	ENST00000512706.1	-	1	188	c.24_splice	c.e1+1	p.E8_splice	RCHY1_ENST00000380840.2_Silent_p.R15R|RCHY1_ENST00000451788.1_Silent_p.R15R|RCHY1_ENST00000514021.1_Intron|RCHY1_ENST00000513257.1_Silent_p.R15R|RCHY1_ENST00000324439.5_Silent_p.R15R			Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	30					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCCGCTGACCTCGCTCTTGAC	0.617													6	66					0	0	0	0	G	76439452	T	G	76439452	5	3	493	1	0	0	0	0	0	0	1	0	13259	1538	54	5	776	5	RCHY1	4	76439452	Splice_Site	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	6747272	76439452	114714824	35	95322											
CXXC4	80319	broad.mit.edu	37	chr4	105412465	105412467	+	In_Frame_Del	DEL	GCC	GCC	-																															tggtgcatgctggtcctgctGccgccgccgccgccgccgcc																										TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:105412465_105412467delGCC	ENST00000394767.2	-	2	943_945	c.493_495delGGC	c.(493-495)del	p.G165del	CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	0	Interaction with DVL1 (By similarity).				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													9	110	---	---	---	---					-	105412467	GCC	-	105412465	7	5	493	1	0	1	0	1	0	0	0	0	4130	1334	46	0		0	CXXC4	4	105412465	In_Frame_Del	DEL	GCC	TCGA-UF-A71B-01A-12D-A34J-08	28973013	105412465	85741811	36	95323											
ADAM29	11086	broad.mit.edu	37	chr4	175897038	175897038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccctcagtacctgttttgGgggttttcaaggaatattac	8	16	9	8	0	2	0	2	0	0	0	3	1	3	1	2	3	2	3	2	3	5	8			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:175897038G>A	ENST00000359240.3	+	5	1032	c.362G>A	c.(361-363)gGg>gAg	p.G121E	ADAM29_ENST00000514159.1_Missense_Mutation_p.G121E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G121E|ADAM29_ENST00000445694.1_Missense_Mutation_p.G121E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	121					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCTGTTTTGGGGGTTTTCAA	0.428													57	133					0	0	0	0	A	175897038	G	A	175897038	3	1	493	1	0	0	0	0	1	0	0	0	247	1232	43	4	364	4	ADAM29	4	175897038	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	70484573	175897038	15257238	37	95324											
KIAA0947	23379	broad.mit.edu	37	chr5	5462044	5462044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttatcacaaaacagacaaGacctgaaaaggttcagagtg	18	7	9	7	0	2	4	2	1	0	3	2	4	2	4	1	1	1	2	1	1	6	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:5462044G>C	ENST00000296564.7	+	13	2819	c.2597G>C	c.(2596-2598)aGa>aCa	p.R866T		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	866										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACAGACAAGACCTGAAAAG	0.418													48	111					0	0	0	0	C	5462044	G	C	5462044	3	2	493	1	0	0	0	0	1	0	0	0	8253	942	33	2	2647	2	KIAA0947	5	5462044	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		5462044	175453216	38	95325											
ADCY2	108	broad.mit.edu	37	chr5	7766898	7766898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtggcgattctgcgtgcGcagaatttatttttcctccc	6	14	10	11	3	1	1	0	0	1	1	3	2	3	1	2	2	2	1	2	2	2	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:7766898G>A	ENST00000338316.4	+	17	2282	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	ADCY2_ENST00000537121.1_Silent_p.A551A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	731					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			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						TTCTGCGTGCGCAGAATTTAT	0.428													6	373					0	0	0	0	A	7766898	G	A	7766898	2	1	493	1	0	0	0	0	0	0	0	1	294	1074	38	1		1	ADCY2	5	7766898	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	2304854	7766898	173148362	39	95326											
CTNND2	1501	broad.mit.edu	37	chr5	11022970	11022970	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccatgttcttggtaatCacttcgtgcagtgtgcagca	7	15	9	10	1	3	0	1	0	2	0	5	0	3	0	1	1	3	5	1	1	1	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:11022970C>G	ENST00000304623.8	-	17	3099	c.2910G>C	c.(2908-2910)gtG>gtC	p.V970V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.V879V|CTNND2_ENST00000503622.1_Silent_p.V633V|CTNND2_ENST00000458100.2_Silent_p.V537V|CTNND2_ENST00000359640.2_Silent_p.V912V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	970					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTGGTAATCACTTCGTGCA	0.517													8	152					0	0	0	0	G	11022970	C	G	11022970	2	3	493	1	0	0	0	0	0	0	0	1	4052	813	29	2		2	CTNND2	5	11022970	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	3256072	11022970	169892290	40	95327											
LIFR	3977	broad.mit.edu	37	chr5	38523656	38523656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaatcagcagacaaattCaagatctctggagtatctgg	15	9	10	7	0	4	3	2	0	2	3	5	5	4	4	0	2	1	2	0	2	4	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:38523656C>G	ENST00000263409.4	-	5	588	c.426G>C	c.(424-426)ttG>ttC	p.L142F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.L142F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	142					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGACAAATTCAAGATCTCTG	0.343			T	PLAG1	salivary adenoma								62	109					0	0	0	0	G	38523656	C	G	38523656	3	3	493	1	0	0	0	0	1	0	0	0	8834	825	29	2	2931	2	LIFR	5	38523656	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	27500686	38523656	142391604	41	95328											
ERBB2IP	55914	broad.mit.edu	37	chr5	65350190	65350190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccttcctagatcagagaGcacagaaaatcaaagttatg	15	9	8	9	0	2	3	2	0	0	3	4	4	4	3	2	0	1	3	2	0	5	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:65350190G>T	ENST00000284037.5	+	21	3433	c.3044G>T	c.(3043-3045)aGc>aTc	p.S1015I	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1011I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1015I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1015					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGATCAGAGAGCACAGAAAAT	0.398													19	37					1.33834e-09	1.44815e-09	1	0	T	65350190	G	T	65350190	3	4	493	1	0	0	0	0	1	0	0	0	5245	971	34	4	3118	4	ERBB2IP	5	65350190	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	26826534	65350190	115565070	42	95329											
FBN2	2201	broad.mit.edu	37	chr5	127622436	127622436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccttctccatcgggccttCgggccattccaggagggcag	6	8	13	14	2	1	0	0	0	1	0	5	1	2	1	5	4	1	1	5	4	0	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:127622436C>T	ENST00000508053.1	-	61	7960	c.6986G>A	c.(6985-6987)cGa>cAa	p.R2329Q	FBN2_ENST00000262464.4_Missense_Mutation_p.R2329Q			P35556	FBN2_HUMAN	fibrillin 2	2329	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R2329Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCGGGCCTTCGGGCCATTCC	0.512													7	51					0	0	0	0	T	127622436	C	T	127622436	3	4	493	1	0	0	0	0	1	0	0	0	5748	884	31	1	1796	1	FBN2	5	127622436	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	62272246	127622436	53292824	43	95330											
PCDHB13	56123	broad.mit.edu	37	chr5	140594564	140594564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagcttcagaagagattgGcaaaacctttaagatcaatc	16	9	7	9	0	2	3	2	0	0	3	3	4	2	3	2	1	2	2	2	1	6	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:140594564G>T	ENST00000341948.4	+	1	1056	c.869G>T	c.(868-870)gGc>gTc	p.G290V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		290	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAGATTGGCAAAACCTTT	0.418													64	104					1.31171e-36	1.52071e-36	1	0	T	140594564	G	T	140594564	3	4	493	1	0	0	0	0	1	0	0	0	11609	1203	42	4	871	4	PCDHB13	5	140594564	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	12972128	140594564	40320696	44	95331											
PCDHGC5	56097	broad.mit.edu	37	chr5	140871102	140871102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacatggaggtgacgctgcgGcccacagactcgcagagcca	10	5	13	13	3	0	3	0	1	0	2	1	4	0	4	2	3	3	2	2	3	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:140871102G>A	ENST00000252087.1	+	1	2295	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		765					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCTGCGGCCCACAGACT	0.617													18	52					0	0	0	0	A	140871102	G	A	140871102	2	1	493	1	0	0	0	0	0	0	0	1	11642	1190	42	4		4	PCDHGC5	5	140871102	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	276538	140871102	40044158	45	95332											
KIF4B	285643	broad.mit.edu	37	chr5	154396174	154396174	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagacagagttacaagctGagctggtcagaatggagcaa	15	7	13	6	0	1	4	1	1	0	3	1	6	1	5	0	2	4	4	0	2	5	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:154396174G>T	ENST00000435029.4	+	1	2915	c.2755G>T	c.(2755-2757)Gag>Tag	p.E919*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	919	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTACAAGCTGAGCTGGTCAG	0.468													19	60					4.96729e-08	5.3203e-08	1	0	T	154396174	G	T	154396174	4	4	493	1	0	0	0	0	0	1	0	0	8355	1291	45	2	2757	2	KIF4B	5	154396174	Nonsense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	13525072	154396174	26519086	46	95333											
CYFIP2	26999	broad.mit.edu	37	chr5	156723768	156723768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtcaccaagctcatgaagTtcatgtattttcaggtgagt	11	13	10	7	0	4	2	4	2	0	0	4	2	4	2	1	2	1	3	1	2	3	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:156723768T>C	ENST00000347377.6	+	5	804	c.373T>C	c.(373-375)Ttc>Ctc	p.F125L	CYFIP2_ENST00000541131.1_Missense_Mutation_p.F50L|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Missense_Mutation_p.F99L|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.F125L|CYFIP2_ENST00000377576.3_Missense_Mutation_p.F125L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	125					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCATGAAGTTCATGTATTT	0.517													28	52					0	0	0	0	C	156723768	T	C	156723768	3	2	493	1	0	0	0	0	1	0	0	0	4170	1725	60	5	387	5	CYFIP2	5	156723768	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	2327594	156723768	24191492	47	95334											
NSD1	64324	broad.mit.edu	37	chr5	176637097	176637097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtccaacactgccccagGaagttttctgttttcttcct	7	14	8	12	0	2	0	0	0	2	0	4	1	4	1	4	2	2	2	4	2	2	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:176637097G>A	ENST00000439151.2	+	5	1742	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	NSD1_ENST00000347982.4_Missense_Mutation_p.G297E|NSD1_ENST00000354179.4_Missense_Mutation_p.G297E|NSD1_ENST00000361032.4_Missense_Mutation_p.G463E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	566					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTGCCCCAGGAAGTTTTCTG	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			11	73					0	0	0	0	A	176637097	G	A	176637097	3	1	493	1	0	0	0	0	1	0	0	0	10740	1174	41	2	1711	2	NSD1	5	176637097	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	19913329	176637097	4278163	48	95335											
NUP153	9972	broad.mit.edu	37	chr6	17688742	17688742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggccagcgtggaacctcGcttgtgtctgttgaacagct	6	12	12	11	2	2	1	0	1	2	0	3	2	2	2	2	2	4	3	2	2	2	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:17688742G>A	ENST00000262077.2	-	2	218	c.219C>T	c.(217-219)agC>agT	p.S73S	NUP153_ENST00000537253.1_Silent_p.S73S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	73					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGGAACCTCGCTTGTGTCTG	0.448													43	114					0	0	0	0	A	17688742	G	A	17688742	2	1	493	1	0	0	0	0	0	0	0	1	10826	1078	38	1		1	NUP153	6	17688742	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		17688742	153426325	49	95336											
FGD2	221472	broad.mit.edu	37	chr6	36978763	36978763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcaggagccagagaagaaGatcgtccaggagctgctgga	12	4	15	10	2	0	3	0	0	0	3	2	7	1	6	3	3	3	3	3	3	2	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:36978763G>A	ENST00000274963.8	+	3	486	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	105	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAGAGAAGAAGATCGTCCAGG	0.607													21	56					0	0	0	0	A	36978763	G	A	36978763	2	1	493	1	0	0	0	0	0	0	0	1	5878	933	33	2		2	FGD2	6	36978763	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	19290021	36978763	134136304	50	95337											
SENP6	26054	broad.mit.edu	37	chr6	76333615	76333615	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccttattttctgtgtaGtgggacaaatctgctcagtg	7	16	9	9	0	3	0	1	0	2	0	4	1	4	1	2	1	1	2	2	1	3	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:76333615G>A	ENST00000370014.3	+	3	765		c.e3-1		SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000447266.2_Splice_Site	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCTGTGTAGTGGGACAAAT	0.333													12	52					0	0	0	0	A	76333615	G	A	76333615	5	1	493	1	0	0	0	0	0	0	1	0	14137	1043	36	4	156	4	SENP6	6	76333615	Splice_Site	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	39354852	76333615	94781452	51	95338											
PHIP	55023	broad.mit.edu	37	chr6	79708071	79708071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctgtccagtgggctgatCtcctggtttgcttgctgact	4	15	12	10	0	1	2	0	2	1	0	3	2	2	2	2	2	3	5	2	2	0	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:79708071C>G	ENST00000275034.4	-	18	2084	c.1917G>C	c.(1915-1917)gaG>gaC	p.E639D		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	639					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTGGGCTGATCTCCTGGTTTG	0.398													39	110					0	0	0	0	G	79708071	C	G	79708071	3	3	493	1	0	0	0	0	1	0	0	0	11914	912	32	2	3640	2	PHIP	6	79708071	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	3374456	79708071	91406996	52	95339											
TTK	7272	broad.mit.edu	37	chr6	80744740	80744740	+	Frame_Shift_Del	DEL	T	T	-																															gaaaagaaacagatatatgcTataaaatatgtgaacttaga																										TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:80744740delT	ENST00000509894.1	+	15	2479	c.1650delT	c.(1648-1650)gcfs	p.A550fs	TTK_ENST00000230510.3_Frame_Shift_Del_p.A550fs|TTK_ENST00000369798.2_Frame_Shift_Del_p.A551fs			P33981	TTK_HUMAN	TTK protein kinase	551	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGATATATGCTATAAAATATG	0.299													34	155	---	---	---	---					-	80744740	T	-	80744740	7	5	493	1	0	1	0	1	0	0	0	0	16816	1509	53	0	1707	0	TTK	6	80744740	Frame_Shift_Del	DEL	T	TCGA-UF-A71B-01A-12D-A34J-08	1036669	80744740	90370327	53	95340	1137	2									
TTK	7272	broad.mit.edu	37	chr6	80744748	80744748	+	Missense_Mutation	SNP	A	A	T																															acagatatatgctataaaatAtgtgaacttagaagaagcag																										TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:80744748A>T	ENST00000509894.1	+	15	2487	c.1658A>T	c.(1657-1659)tAt>tTt	p.Y553F	TTK_ENST00000230510.3_Missense_Mutation_p.Y553F|TTK_ENST00000369798.2_Missense_Mutation_p.Y554F			P33981	TTK_HUMAN	TTK protein kinase	554	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCTATAAAATATGTGAACTTA	0.308													37	132					0	0	0	0	T	80744748	A	T	80744748	3	4	493	1	0	0	0	0	1	0	0	0	16816	449	16	5	1715	5	TTK	6	80744748	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	8	80744748	90370319	54	95341	1137	2									
ROS1	6098	broad.mit.edu	37	chr6	117710803	117710803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggggatgcgaggtaggAtgagatgggaagcagagcca	14	4	18	5	1	0	2	0	1	0	2	0	7	0	5	1	5	3	2	1	5	3	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:117710803A>G	ENST00000368508.3	-	12	1667	c.1469T>C	c.(1468-1470)aTc>aCc	p.I490T	ROS1_ENST00000368507.3_Missense_Mutation_p.I499T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	490					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCGAGGTAGGATGAGATGGGA	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								16	65					0	0	0	0	G	117710803	A	G	117710803	3	3	493	1	0	0	0	0	1	0	0	0	13616	333	12	5	5702	5	ROS1	6	117710803	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	36966055	117710803	53404264	55	95342											
GOPC	57120	broad.mit.edu	37	chr6	117900158	117900158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaaagctgatcatgtaCttctttctccaaaacaactt	13	14	4	10	0	3	1	1	1	2	0	4	1	3	1	1	0	4	3	1	0	6	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:117900158C>T	ENST00000535237.1	-	2	584	c.355G>A	c.(355-357)Gta>Ata	p.V119I	GOPC_ENST00000368498.2_Missense_Mutation_p.V119I|GOPC_ENST00000052569.6_Missense_Mutation_p.V119I					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TGATCATGTACTTCTTTCTCC	0.393			O	ROS1	glioblastoma								6	77					0	0	0	0	T	117900158	C	T	117900158	3	4	493	1	0	0	0	0	1	0	0	0	6621	565	20	4	1065	4	GOPC	6	117900158	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	189355	117900158	53214909	56	95343											
LAMA2	3908	broad.mit.edu	37	chr6	129835643	129835643	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatcaaacaccgcattgaGctcacagtcgatgggaacca	15	6	9	11	2	2	2	2	1	0	1	3	4	2	3	2	1	3	2	2	1	3	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:129835643G>A	ENST00000421865.2	+	64	9163	c.9114G>A	c.(9112-9114)gaG>gaA	p.E3038E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3038	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCGCATTGAGCTCACAGTCG	0.517													13	107					0	0	0	0	A	129835643	G	A	129835643	2	1	493	1	0	0	0	0	0	0	0	1	8659	962	34	4		4	LAMA2	6	129835643	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	11935485	129835643	41279424	57	95344											
SYNE1	23345	broad.mit.edu	37	chr6	152832197	152832197	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaagaactattgagggtcgGccatcagctatatcggtgga	11	9	12	9	2	1	2	1	1	0	1	3	3	1	3	2	4	2	1	2	4	5	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:152832197G>T	ENST00000367255.5	-	7	952	c.351C>A	c.(349-351)ggC>ggA	p.G117G	SYNE1_ENST00000413186.2_Silent_p.G117G|SYNE1_ENST00000367253.4_Silent_p.G117G|SYNE1_ENST00000423061.1_Silent_p.G124G|SYNE1_ENST00000448038.1_Silent_p.G124G|SYNE1_ENST00000341594.5_Silent_p.G117G|SYNE1_ENST00000265368.4_Silent_p.G117G|SYNE1_ENST00000466159.2_Silent_p.G117G|SYNE1_ENST00000367248.3_Silent_p.G124G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	117	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGAGGGTCGGCCATCAGCTA	0.348										HNSCC(10;0.0054)			5	186					0.0215528	0.021759	1	0	T	152832197	G	T	152832197	2	4	493	1	0	0	0	0	0	0	0	1	15536	1190	42	4		4	SYNE1	6	152832197	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	22996554	152832197	18282870	58	95345											
FKBP14	55033	broad.mit.edu	37	chr7	30066235	30066235	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggcttcagacaagttcaGgactcccccttcttagaaga	12	9	9	11	0	3	3	2	0	1	3	4	4	4	4	2	2	0	2	2	2	4	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:30066235G>T	ENST00000222803.5	-	0	65					NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa						protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						GACAAGTTCAGGACTCCCCCT	0.473													5	9					0.014758	0.0149708	1	0	T	30066235	G	T	30066235	1	4	493	1	0	0	0	0	0	0	0	0	5949	1015	35	4		4	FKBP14	7	30066235	Translation_Start_Site	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		30066235	129072428	59	95346											
AMPH	273	broad.mit.edu	37	chr7	38475887	38475887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctgagacatgggtgaGtgggtcactccagcagaacc	11	7	13	10	0	1	3	1	2	0	2	2	5	2	3	3	2	3	1	3	2	2	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:38475887G>C	ENST00000356264.2	-	12	1334	c.1119C>G	c.(1117-1119)caC>caG	p.H373Q	AMPH_ENST00000325590.5_Missense_Mutation_p.H373Q|AMPH_ENST00000428293.2_Missense_Mutation_p.H373Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	373					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACATGGGTGAGTGGGTCACTC	0.468													15	62					0	0	0	0	C	38475887	G	C	38475887	3	2	493	1	0	0	0	0	1	0	0	0	588	1020	36	4	1008	4	AMPH	7	38475887	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	8409652	38475887	120662776	60	95347											
POU6F2	11281	broad.mit.edu	37	chr7	39247049	39247049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcgtgatgccgggaggccCcccagccctcaaccagccaa	8	3	12	18	3	1	1	1	1	0	0	1	2	1	2	7	3	4	0	7	3	2	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:39247049C>T	ENST00000518318.2	+	4	383	c.341C>T	c.(340-342)cCc>cTc	p.P114L	POU6F2_ENST00000559001.1_Missense_Mutation_p.P106L|POU6F2_ENST00000403058.1_Missense_Mutation_p.P114L|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	114					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P114H(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGGGAGGCCCCCCAGCCCTC	0.582													41	175					0	0	0	0	T	39247049	C	T	39247049	3	4	493	1	0	0	0	0	1	0	0	0	12356	623	22	4	355	4	POU6F2	7	39247049	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	771162	39247049	119891614	61	95348											
ZNF679	168417	broad.mit.edu	37	chr7	63726627	63726627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacatcaacatcagataattCatactagggagaattcctac	16	11	5	9	0	3	2	3	0	0	2	4	3	4	2	1	1	4	0	1	1	7	7			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:63726627C>G	ENST00000421025.1	+	5	885	c.616C>G	c.(616-618)Cat>Gat	p.H206D	ZNF679_ENST00000255746.4_Missense_Mutation_p.H206D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCAGATAATTCATACTAGGGA	0.348													4	9					0	0	0	0	G	63726627	C	G	63726627	3	3	493	1	0	0	0	0	1	0	0	0	18181	826	29	2	630	2	ZNF679	7	63726627	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	24479578	63726627	95412036	62	95349											
CFTR	1080	broad.mit.edu	37	chr7	117149100	117149100	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcagagaatgggatagAgagctggcttcaaagaaaaa	16	9	12	4	0	1	3	1	0	0	3	1	6	1	4	0	2	2	3	0	2	5	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:117149100A>G	ENST00000003084.6	+	3	309	c.177A>G	c.(175-177)agA>agG	p.R59R	CFTR_ENST00000454343.1_Silent_p.R59R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	59					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AATGGGATAGAGAGCTGGCTT	0.343									Cystic Fibrosis				5	155					0	0	0	0	G	117149100	A	G	117149100	2	3	493	1	0	0	0	0	0	0	0	1	3323	301	11	5		5	CFTR	7	117149100	Silent	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	53422473	117149100	41989563	63	95350											
TAS2R40	259286	broad.mit.edu	37	chr7	142919351	142919351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactggtgaccgcattatGttgatgctgagcttttccag	7	13	10	11	1	0	3	0	3	0	0	1	3	1	3	3	1	2	4	3	1	1	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:142919351G>A	ENST00000408947.3	+	1	222	c.180G>A	c.(178-180)atG>atA	p.M60I	AC073342.1_ENST00000595842.1_Missense_Mutation_p.H4Y	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	60					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					ACCGCATTATGTTGATGCTGA	0.488													37	85					0	0	0	0	A	142919351	G	A	142919351	3	1	493	1	0	0	0	0	1	0	0	0	15669	1377	48	4	182	4	TAS2R40	7	142919351	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	25770251	142919351	16219312	64	95351											
ZNF398	57541	broad.mit.edu	37	chr7	148876142	148876142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcacctcccaggaccatgCcagcgagacaccccccacct	10	3	7	21	1	0	1	0	0	0	1	1	3	1	2	8	1	3	1	8	1	0	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:148876142C>G	ENST00000420008.2	+	6	1453	c.665C>G	c.(664-666)gCc>gGc	p.A222G	ZNF398_ENST00000483892.1_Missense_Mutation_p.A222G|ZNF398_ENST00000475153.1_Missense_Mutation_p.A393G|ZNF398_ENST00000335901.4_Missense_Mutation_p.A222G|ZNF398_ENST00000540950.1_Missense_Mutation_p.A398G|ZNF398_ENST00000491174.1_Missense_Mutation_p.A222G|ZNF398_ENST00000426851.2_Missense_Mutation_p.A222G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	393					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGGACCATGCCAGCGAGACA	0.577													38	141					0	0	0	0	G	148876142	C	G	148876142	3	3	493	1	0	0	0	0	1	0	0	0	17980	739	26	4	1200	4	ZNF398	7	148876142	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	5956791	148876142	10262521	65	95352											
ZNF746	155061	broad.mit.edu	37	chr7	149191090	149191090	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccttacccagggagacCagcgtctcgtagttgcccct	7	8	11	15	2	1	1	0	0	1	1	2	2	1	1	5	2	3	2	5	2	2	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:149191090C>T	ENST00000461958.2	-	3	592	c.396G>A	c.(394-396)ctG>ctA	p.L132L	ZNF746_ENST00000458143.2_Silent_p.L132L|ZNF746_ENST00000340622.3_Silent_p.L132L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	132	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCAGGGAGACCAGCGTCTCGT	0.502													40	118					0	0	0	0	T	149191090	C	T	149191090	2	4	493	1	0	0	0	0	0	0	0	1	18223	581	21	4		4	ZNF746	7	149191090	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	314948	149191090	9947573	66	95353											
CDK5	1020	broad.mit.edu	37	chr7	150754047	150754047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcagatctcccggagggCggaactcggcacaccctgca	9	5	13	14	3	1	1	0	0	1	1	3	3	1	3	2	5	2	3	2	5	2	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:150754047C>T	ENST00000485972.1	-	3	823	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	CDK5_ENST00000297518.4_Missense_Mutation_p.A48T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	48	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	p.A48T(1)		central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCCCGGAGGGCGGAACTCGGC	0.662													18	58					0	0	0	0	T	150754047	C	T	150754047	3	4	493	1	0	0	0	0	1	0	0	0	3171	768	27	1	776	1	CDK5	7	150754047	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	1562957	150754047	8384616	67	95354											
INSIG1	3638	broad.mit.edu	37	chr7	155093399	155093399	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcattaaccacgccagtgCtgtatccttaattttctgtg	8	15	8	10	1	1	0	0	0	1	0	2	0	2	0	3	1	2	3	3	1	3	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:155093399C>T	ENST00000340368.4	+	3	747	c.537_splice	c.e3+1	p.A179_splice	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	179					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACGCCAGTGCTGTATCCTTA	0.403													30	163					0	0	0	0	T	155093399	C	T	155093399	5	4	493	1	0	0	0	0	0	0	1	0	7818	811	28	4	542	4	INSIG1	7	155093399	Splice_Site	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	4339352	155093399	4045264	68	95355											
RP1L1	94137	broad.mit.edu	37	chr8	10470230	10470230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagccctcggggaggcCggtgctggaggctgggctgg	3	6	20	12	3	0	0	0	0	0	0	2	3	1	2	3	8	2	3	3	8	0	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:10470230C>T	ENST00000382483.3	-	4	1601	c.1378G>A	c.(1378-1380)Ggc>Agc	p.G460S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	460					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGGGGAGGCCGGTGCTGGAG	0.726													5	68					0	0	0	0	T	10470230	C	T	10470230	3	4	493	1	0	0	0	0	1	0	0	0	13618	652	23	1	5828	1	RP1L1	8	10470230	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08		10470230	135893792	69	95356											
PURG	29942	broad.mit.edu	37	chr8	30889481	30889481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacatcaaagtagaacCttttattgtccactctgaaa	14	11	5	11	0	2	2	1	1	1	1	3	2	3	2	3	0	2	1	3	0	5	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:30889481C>T	ENST00000475541.1	-	1	1750	c.818G>A	c.(817-819)aGg>aAg	p.R273K	PURG_ENST00000339382.2_Missense_Mutation_p.R273K	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	273						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAAGTAGAACCTTTTATTGTC	0.428													20	76					0	0	0	0	T	30889481	C	T	30889481	3	4	493	1	0	0	0	0	1	0	0	0	12911	681	24	4	338	4	PURG	8	30889481	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	20419251	30889481	115474541	70	95357											
RNF19A	25897	broad.mit.edu	37	chr8	101299800	101299800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtctaagcataaattcttcGtatttttccatcaagacatc	12	15	4	10	2	3	1	1	0	2	1	6	1	4	1	1	0	1	2	1	0	5	7			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:101299800G>A	ENST00000519449.1	-	3	919	c.603C>T	c.(601-603)taC>taT	p.Y201Y	RNF19A_ENST00000341084.2_Silent_p.Y201Y	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	201					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TAAATTCTTCGTATTTTTCCA	0.388													56	135					0	0	0	0	A	101299800	G	A	101299800	2	1	493	1	0	0	0	0	0	0	0	1	13555	1140	40	1		1	RNF19A	8	101299800	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	70410319	101299800	45064222	71	95358											
COL14A1	7373	broad.mit.edu	37	chr8	121282323	121282323	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttatggtggatggatcctgGagcattggagatgaaaattt	11	14	13	3	0	0	2	0	1	0	1	1	6	1	5	1	5	1	1	1	5	3	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:121282323G>A	ENST00000297848.3	+	26	3393	c.3123G>A	c.(3121-3123)tgG>tgA	p.W1041*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W1041*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W946*|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1041	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGGATCCTGGAGCATTGGAG	0.428													27	132					0	0	0	0	A	121282323	G	A	121282323	4	1	493	1	0	0	0	0	0	1	0	0	3701	1183	41	2	3221	2	COL14A1	8	121282323	Nonsense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	19982523	121282323	25081699	72	95359											
ZFAT	57623	broad.mit.edu	37	chr8	135614102	135614102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtctggactgagcttctGtgctgcatgtctgggggctt	3	14	15	9	1	3	1	0	1	3	0	3	2	3	2	0	3	4	4	0	3	0	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:135614102G>A	ENST00000520727.1	-	7	2123	c.1824C>T	c.(1822-1824)caC>caT	p.H608H	ZFAT_ENST00000377838.3_Silent_p.H620H|ZFAT_ENST00000520214.1_Silent_p.H608H|ZFAT_ENST00000523399.1_Silent_p.H558H|ZFAT_ENST00000429442.2_Silent_p.H608H|ZFAT_ENST00000520356.1_Silent_p.H608H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGAGCTTCTGTGCTGCATGT	0.537													37	118					0	0	0	0	A	135614102	G	A	135614102	2	1	493	1	0	0	0	0	0	0	0	1	17727	1368	48	4		4	ZFAT	8	135614102	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	14331779	135614102	10749920	73	95360											
COL22A1	169044	broad.mit.edu	37	chr8	139611102	139611102	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaggctggccttttcCaccaggaggtcctttgtcac	5	11	10	15	0	1	0	1	0	0	0	4	1	4	1	6	4	0	1	6	4	0	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:139611102C>A	ENST00000303045.6	-	61	4671	c.4225G>T	c.(4225-4227)Gga>Tga	p.G1409*	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.G1389*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1409	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGCCTTTTCCACCAGGAGGT	0.577										HNSCC(7;0.00092)			17	73					1.99824e-07	2.12943e-07	1	0	A	139611102	C	A	139611102	4	1	493	1	0	0	0	0	0	1	0	0	3711	603	21	4	675	4	COL22A1	8	139611102	Nonsense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	3997000	139611102	6752920	74	95361											
PSCA	8000	broad.mit.edu	37	chr8	143763539	143763539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctgctctggggacccGgccagctctaggctctgggg	3	8	16	14	1	3	0	0	0	3	0	3	1	3	1	3	6	3	4	3	6	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:143763539G>A	ENST00000301258.4	+	3	417	c.334G>A	c.(334-336)Ggc>Agc	p.G112S		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	112										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGGGACCCGGCCAGCTCTA	0.711													4	57					0	0	0	0	A	143763539	G	A	143763539	3	1	493	1	0	0	0	0	1	0	0	0	12724	1116	39	1	344	1	PSCA	8	143763539	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	4152437	143763539	2600483	75	95362											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18721646	18721646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgaagtcctgcaatttGgatccctgcccagcaaggta	9	10	9	13	0	0	1	0	1	0	0	3	2	3	2	4	2	3	3	4	2	4	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:18721646G>A	ENST00000380548.4	+	15	2328	c.1989G>A	c.(1987-1989)ttG>ttA	p.L663L	ADAMTSL1_ENST00000276935.6_Silent_p.L663L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	663	TSP type-1 5.					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)		CCTGCAATTTGGATCCCTGCC	0.592													23	41					0	0	0	0	A	18721646	G	A	18721646	2	1	493	1	0	0	0	0	0	0	0	1	274	1339	47	4		4	ADAMTSL1	9	18721646	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		18721646	122491785	76	95363											
LINGO2	158038	broad.mit.edu	37	chr9	27950061	27950061	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcagatgcaggctgatGaggctgcggaggtgggagag	8	8	19	6	1	1	4	1	2	0	2	1	6	1	5	0	5	3	4	0	5	0	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:27950061G>T	ENST00000379992.2	-	6	1058	c.609C>A	c.(607-609)ctC>ctA	p.L203L	LINGO2_ENST00000308675.3_Silent_p.L203L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	203						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCAGGCTGATGAGGCTGCGGA	0.478													19	44					2.35188e-11	2.59815e-11	1	0	T	27950061	G	T	27950061	2	4	493	1	0	0	0	0	0	0	0	1	8870	1277	45	2		2	LINGO2	9	27950061	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	9228415	27950061	113263370	77	95364											
PAX5	5079	broad.mit.edu	37	chr9	36882055	36882055	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgccctgtccagcgggggGgacgtgtggagggtacccgg	4	6	20	11	3	0	0	0	0	0	0	1	2	1	2	3	6	3	2	3	6	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:36882055G>C	ENST00000358127.4	-	8	1032	c.958C>G	c.(958-960)Ccc>Gcc	p.P320A	PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.P212A|PAX5_ENST00000414447.1_Missense_Mutation_p.P277A|PAX5_ENST00000520281.1_Missense_Mutation_p.P277A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P320A|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	320					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CCAGCGGGGGGGACGTGTGGA	0.647			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								13	17					0	0	0	0	C	36882055	G	C	36882055	3	2	493	1	0	0	0	0	1	0	0	0	11553	1232	43	4	229	4	PAX5	9	36882055	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	8931994	36882055	104331376	78	95365											
GDA	9615	broad.mit.edu	37	chr9	74764516	74764516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccctggcgcacatcttccGagggacgttcgtccactcca	6	8	10	17	4	1	0	0	0	1	0	5	2	4	1	5	2	0	2	5	2	0	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:74764516G>A	ENST00000358399.3	+	1	134	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	GDA_ENST00000238018.4_Missense_Mutation_p.R14Q|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_5'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	14					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CACATCTTCCGAGGGACGTTC	0.701													10	24					0	0	0	0	A	74764516	G	A	74764516	3	1	493	1	0	0	0	0	1	0	0	0	6356	1058	37	1	43	1	GDA	9	74764516	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	37882461	74764516	66448915	79	95366											
ROR2	4920	broad.mit.edu	37	chr9	94485948	94485948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggccctggtgccactcaaGcttccagctggacttgggcc	5	8	13	15	1	1	0	1	0	0	0	2	1	2	1	4	4	3	2	4	4	1	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:94485948G>A	ENST00000375708.3	-	9	3026	c.2828C>T	c.(2827-2829)gCt>gTt	p.A943V	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	943					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCCACTCAAGCTTCCAGCTG	0.612													15	79					0	0	0	0	A	94485948	G	A	94485948	3	1	493	1	0	0	0	0	1	0	0	0	13612	971	34	4	7	4	ROR2	9	94485948	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	19721432	94485948	46727483	80	95367											
C9orf3	84909	broad.mit.edu	37	chr9	97718211	97718211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctacttccttcttcggtttCttgccaaaagacttggagat	8	15	8	10	1	2	2	0	0	2	2	4	3	3	2	2	2	2	2	2	2	3	7			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:97718211C>T	ENST00000375315.2	+	8	1786	c.1786C>T	c.(1786-1788)Ctt>Ttt	p.L596F	C9orf3_ENST00000297979.5_Missense_Mutation_p.L497F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	596					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TCTTCGGTTTCTTGCCAAAAG	0.373													39	132					0	0	0	0	T	97718211	C	T	97718211	3	4	493	1	0	0	0	0	1	0	0	0	2502	913	32	2	1511	2	C9orf3	9	97718211	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	3232263	97718211	43495220	81	95368											
DFNB31	25861	broad.mit.edu	37	chr9	117241008	117241008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccccagggatgcgccctGctgagtacacagacagcacc	10	4	11	16	1	0	2	0	1	0	1	0	3	0	3	4	1	5	3	4	1	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:117241008G>T	ENST00000362057.3	-	2	830	c.662C>A	c.(661-663)gCa>gAa	p.A221E	DFNB31_ENST00000374057.3_Missense_Mutation_p.A221E|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	221	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGCGCCCTGCTGAGTACAC	0.642													6	27					0.000157383	0.000164395	1	0	T	117241008	G	T	117241008	3	4	493	1	0	0	0	0	1	0	0	0	4492	1319	46	4	2105	4	DFNB31	9	117241008	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	19522797	117241008	23972423	82	95369											
QSOX2	169714	broad.mit.edu	37	chr9	139113676	139113676	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgacccatttgggtagaTcaggtaacacgaagggactg	12	8	13	8	2	1	1	1	0	0	1	1	4	1	2	1	3	2	2	1	3	3	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:139113676T>A	ENST00000358701.5	-	6	824	c.787A>T	c.(787-789)Atc>Ttc	p.I263F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	263					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TTTGGGTAGATCAGGTAACAC	0.552													25	70					0	0	0	0	A	139113676	T	A	139113676	3	1	493	1	0	0	0	0	1	0	0	0	12966	1435	50	5	1337	5	QSOX2	9	139113676	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	21872668	139113676	2099755	83	95370											
C9orf37	85026	broad.mit.edu	37	chr9	140510463	140510465	+	In_Frame_Del	DEL	CCA	CCA	-																															gaaggctctgggttcaaattCcagttctcctttagggcgaa																										TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:140510463_140510465delCCA	ENST00000371417.3	-	3	727_729	c.187_189delTGG	c.(187-189)del	p.W63del	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	63										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		GGTTCAAATTCCAGTTCTCCTTT	0.571													22	52	---	---	---	---					-	140510465	CCA	-	140510463	7	5	493	1	0	1	0	1	0	0	0	0	2504	856	30	0	345	0	C9orf37	9	140510463	In_Frame_Del	DEL	CCA	TCGA-UF-A71B-01A-12D-A34J-08	1396787	140510463	702968	84	95371											
C10orf71	118461	broad.mit.edu	37	chr10	50530982	50530982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagactggaggtgccagtttCcggcctaaggagcagcaata	11	7	14	9	1	0	1	0	0	0	1	1	4	1	3	3	4	3	3	3	4	3	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:50530982C>A	ENST00000374144.3	+	3	680	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	C10orf71_ENST00000323868.4_Missense_Mutation_p.S131Y			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	131										endometrium(1)	1						GTGCCAGTTTCCGGCCTAAGG	0.537													14	92					0.00316338	0.00325597	1	0	A	50530982	C	A	50530982	3	1	493	1	0	0	0	0	1	0	0	0	1624	855	30	2	394	2	C10orf71	10	50530982	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08		50530982	85003765	85	95372											
SFTPA2	729238	broad.mit.edu	37	chr10	81319204	81319204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcaccagaggctgccatCaagatgagggtgagggccag	11	4	16	10	0	1	4	1	2	0	2	1	4	1	4	3	3	2	3	3	3	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:81319204C>T	ENST00000372325.2	-	3	120	c.36G>A	c.(34-36)ttG>ttA	p.L12L	SFTPA2_ENST00000372327.5_Silent_p.L12L	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	12			L -> W.		cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	p.L12L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGCTGCCATCAAGATGAGGG	0.652									Pulmonary Fibrosis, Idiopathic				27	131					0	0	0	0	T	81319204	C	T	81319204	2	4	493	1	0	0	0	0	0	0	0	1	14277	825	29	2		2	SFTPA2	10	81319204	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	30788222	81319204	54215543	86	95373											
SFTPA1	653509	broad.mit.edu	37	chr10	81371617	81371617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccctcaacctcatcttGatggcagcctctggtgctgt	5	12	10	14	0	4	1	2	1	2	0	4	1	4	1	3	3	3	2	3	3	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:81371617G>A	ENST00000398636.3	+	3	174	c.36G>A	c.(34-36)ttG>ttA	p.L12L	SFTPA1_ENST00000372308.3_Silent_p.L12L|SFTPA1_ENST00000419470.2_Silent_p.L27L|SFTPA1_ENST00000428376.2_Silent_p.L12L|SFTPA1_ENST00000372313.5_Intron	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	12					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCTCATCTTGATGGCAGCCT	0.637													14	172					0	0	0	0	A	81371617	G	A	81371617	2	1	493	1	0	0	0	0	0	0	0	1	14276	1281	45	2		2	SFTPA1	10	81371617	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	52413	81371617	54163130	87	95374											
LGI1	9211	broad.mit.edu	37	chr10	95557169	95557169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaccaaactgacattcctaAcatggaggatgtgtacgcag	14	9	9	9	1	0	1	0	1	0	0	1	3	1	3	2	2	4	2	2	2	4	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:95557169A>G	ENST00000371418.4	+	8	1543	c.1283A>G	c.(1282-1284)aAc>aGc	p.N428S	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.N380S	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	428					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GACATTCCTAACATGGAGGAT	0.413													11	105					0	0	0	0	G	95557169	A	G	95557169	3	3	493	1	0	0	0	0	1	0	0	0	8805	43	2	5	1313	5	LGI1	10	95557169	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	14185552	95557169	39977578	88	95375											
TACC2	10579	broad.mit.edu	37	chr10	123844397	123844397	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagacctggggctcacGgcactcatcctggaccaaga	10	5	12	14	1	2	2	2	0	0	2	3	3	3	3	3	4	1	4	3	4	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:123844397G>C	ENST00000369005.1	+	4	2722	c.2382G>C	c.(2380-2382)acG>acC	p.T794T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.T794T|TACC2_ENST00000334433.3_Silent_p.T794T|TACC2_ENST00000515603.1_Silent_p.T794T|TACC2_ENST00000453444.2_Silent_p.T794T|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	794						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGGGCTCACGGCACTCATCC	0.617													25	48					0	0	0	0	C	123844397	G	C	123844397	2	2	493	1	0	0	0	0	0	0	0	1	15593	1103	39	3		3	TACC2	10	123844397	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	28287228	123844397	11690350	89	95376											
GPR123	84435	broad.mit.edu	37	chr10	134896129	134896129	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggaggagaaggtatcTgaggcccagcgggtagaggc	11	5	17	8	1	1	3	0	1	1	2	2	5	2	4	2	6	1	2	2	6	4	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:134896129T>G	ENST00000607359.1	+	6	1215	c.1215T>G	c.(1213-1215)tcT>tcG	p.S405S				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGAAGGTATCTGAGGCCCAGC	0.582													4	27					0	0	0	0	G	134896129	T	G	134896129	2	3	493	1	0	0	0	0	0	0	0	1	6686	1595	55	5		5	GPR123	10	134896129	Silent	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	11051732	134896129	638618	90	95377											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1628933	1628933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaaattgggacacagCagctggactgggaggagcag	12	4	17	8	0	0	0	0	0	0	0	0	4	0	4	0	5	4	5	0	5	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:1628933C>G	ENST00000399685.1	-	1	760	c.683G>C	c.(682-684)tGc>tCc	p.C228S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	228	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGACACAGCAGCTGGACTG	0.597													42	258					0	0	0	0	G	1628933	C	G	1628933	3	3	493	1	0	0	0	0	1	0	0	0	8615	710	25	4	37	4	KRTAP5-3	11	1628933	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08		1628933	133377583	91	95378											
HBG2	3048	broad.mit.edu	37	chr11	5275545	5275545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttctcaggatccacatGcagcttgtcacagtgcagtt	10	11	10	10	0	2	0	2	0	1	0	4	2	3	1	1	1	3	5	1	1	1	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:5275545G>A	ENST00000380259.2	-	7	1532	c.292C>T	c.(292-294)Cat>Tat	p.H98Y	HBG2_ENST00000380252.1_Missense_Mutation_p.H88Y|HBG2_ENST00000336906.4_Missense_Mutation_p.H98Y					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCACATGCAGCTTGTCA	0.498													29	256					0	0	0	0	A	5275545	G	A	5275545	3	1	493	1	0	0	0	0	1	0	0	0	7033	1319	46	4	159	4	HBG2	11	5275545	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	3646612	5275545	129730971	92	95379											
RIC3	79608	broad.mit.edu	37	chr11	8132318	8132318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcggtgctgatgcccaacCcttcatctttaaagtcttgg	8	14	8	11	1	3	1	1	1	2	0	4	1	3	1	2	2	3	1	2	2	4	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:8132318C>A	ENST00000396677.2	-	3	550	c.551G>T	c.(550-552)gGg>gTg	p.G184V	RIC3_ENST00000343202.4_Missense_Mutation_p.G345V|RIC3_ENST00000309737.6_Missense_Mutation_p.G346V|RIC3_ENST00000425599.2_Missense_Mutation_p.G265V|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Missense_Mutation_p.G164V|RIC3_ENST00000539720.1_Missense_Mutation_p.G297V			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	346						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.G345V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GATGCCCAACCCTTCATCTTT	0.488													42	113					1.15505e-17	1.3103e-17	1	0	A	8132318	C	A	8132318	3	1	493	1	0	0	0	0	1	0	0	0	13437	623	22	4	76	4	RIC3	11	8132318	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	2856773	8132318	126874198	93	95380											
SOX6	55553	broad.mit.edu	37	chr11	16208374	16208374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatttgctgccgttgtttCtcaatttgtgacgctgccag	5	16	9	11	2	1	1	1	1	1	0	3	1	2	1	3	0	3	4	3	0	1	4	rs141152204	by1000genomes	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:16208374C>T	ENST00000352083.6	-	5	740	c.663G>A	c.(661-663)gaG>gaA	p.E221E	SOX6_ENST00000396356.3_Silent_p.E221E|SOX6_ENST00000527619.1_Silent_p.E224E|SOX6_ENST00000528252.1_Silent_p.E221E|SOX6_ENST00000528429.1_Silent_p.E221E|SOX6_ENST00000316399.6_Silent_p.E221E			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	221	Gln-rich.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCCGTTGTTTCTCAATTTGTG	0.522													50	190					0	0	0	0	T	16208374	C	T	16208374	2	4	493	1	0	0	0	0	0	0	0	1	15043	912	32	2		2	SOX6	11	16208374	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	8076056	16208374	118798142	94	95381											
FBXO3	26273	broad.mit.edu	37	chr11	33768700	33768700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctatagacaccctgaaTgttggacatgccatatggaa	12	9	11	9	1	0	2	0	1	0	1	0	4	0	4	2	3	1	2	2	3	5	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:33768700T>C	ENST00000530401.1	-	10	1220	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	FBXO3_ENST00000265651.3_Silent_p.T405T|FBXO3_ENST00000534136.1_Silent_p.T405T|FBXO3_ENST00000448981.2_Silent_p.T405T|FBXO3_ENST00000526785.1_Silent_p.T292T|FBXO3_ENST00000531080.1_Silent_p.T92T|FBXO3_ENST00000532057.1_Silent_p.T92T			Q9UK99	FBX3_HUMAN	F-box protein 3	405	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACACCCTGAATGTTGGACATG	0.383													26	56					0	0	0	0	C	33768700	T	C	33768700	2	2	493	1	0	0	0	0	0	0	0	1	5784	1451	51	5		5	FBXO3	11	33768700	Silent	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	17560326	33768700	101237816	95	95382											
OR5AS1	219447	broad.mit.edu	37	chr11	55798328	55798328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagtctgtgtctgcttcaTtgtgttggcatatttcagtg	6	17	12	6	0	4	1	2	0	2	1	4	2	4	1	0	1	1	3	0	1	1	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:55798328T>C	ENST00000313555.1	+	1	434	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTCTGCTTCATTGTGTTGGCA	0.458													48	100					0	0	0	0	C	55798328	T	C	55798328	3	2	493	1	0	0	0	0	1	0	0	0	11217	1493	52	5	436	5	OR5AS1	11	55798328	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	22029628	55798328	79208188	96	95383											
OR5T1	390155	broad.mit.edu	37	chr11	56044041	56044041	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttgcggaacaaagatgtAaaggaggcaatcaaaagatt	18	8	11	4	1	1	2	1	0	0	2	1	4	1	4	0	3	2	3	0	3	7	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:56044041A>G	ENST00000313033.2	+	1	1013	c.927A>G	c.(925-927)gtA>gtG	p.V309V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACAAAGATGTAAAGGAGGCAA	0.353													25	100					0	0	0	0	G	56044041	A	G	56044041	2	3	493	1	0	0	0	0	0	0	0	1	11252	349	13	5		5	OR5T1	11	56044041	Silent	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	245713	56044041	78962475	97	95384											
SLC29A2	3177	broad.mit.edu	37	chr11	66136979	66136979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggctgtgctgttgccggCcccggccagtcgcgcctgga	2	8	15	16	4	0	0	0	0	0	0	1	1	0	1	6	4	2	3	6	4	0	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:66136979C>T	ENST00000357440.2	-	3	364	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	SLC29A2_ENST00000311161.7_Missense_Mutation_p.A46T|SLC29A2_ENST00000546034.1_Missense_Mutation_p.A46T|SLC29A2_ENST00000544554.1_Missense_Mutation_p.A46T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	46					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CTGTTGCCGGCCCCGGCCAGT	0.642													33	550					0	0	0	0	T	66136979	C	T	66136979	3	4	493	1	0	0	0	0	1	0	0	0	14623	739	26	4	1274	4	SLC29A2	11	66136979	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	10092938	66136979	68869537	98	95385											
RBM14	10432	broad.mit.edu	37	chr11	66392848	66392848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactggctcctatggtgccGcagcagcctacggggcccaa	7	6	12	16	2	0	0	0	0	0	0	1	0	1	0	5	4	4	3	5	4	3	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:66392848G>A	ENST00000310137.4	+	2	1640	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	501	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTATGGTGCCGCAGCAGCCTA	0.622													5	304					0	0	0	0	A	66392848	G	A	66392848	3	1	493	1	0	0	0	0	1	0	0	0	13197	1087	38	1	1507	1	RBM14	11	66392848	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	255869	66392848	68613668	99	95386											
ANKRD13D	338692	broad.mit.edu	37	chr11	67069049	67069049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgcaacgagcccctccGggacgaggacgatgacctcc	9	3	14	15	5	0	1	0	1	0	0	2	7	2	4	5	3	3	1	5	3	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:67069049G>T	ENST00000447274.2	+	13	2353	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R130L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R393L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R393L|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R480L|ANKRD13D_ENST00000504236.1_3'UTR			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	393										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCCCCTCCGGGACGAGGAC	0.657													5	236					0.014758	0.0149708	1	0	T	67069049	G	T	67069049	3	4	493	1	0	0	0	0	1	0	0	0	644	1116	39	3	1489	3	ANKRD13D	11	67069049	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	676201	67069049	67937467	100	95387											
CABP4	57010	broad.mit.edu	37	chr11	67225884	67225884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaattacggtggcggagctgCgggaggcggtaccggctctg	6	7	19	9	5	1	0	0	0	1	0	1	3	1	2	1	7	4	3	1	7	3	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:67225884C>T	ENST00000438189.2	+	6	723	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	CABP4_ENST00000325656.5_Missense_Mutation_p.R232W			P57796	CABP4_HUMAN	calcium binding protein 4	232					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCGGAGCTGCGGGAGGCGGT	0.642													5	207					0	0	0	0	T	67225884	C	T	67225884	3	4	493	1	0	0	0	0	1	0	0	0	2558	759	27	1	712	1	CABP4	11	67225884	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	156835	67225884	67780632	101	95388											
NADSYN1	55191	broad.mit.edu	37	chr11	71164411	71164411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggacttcgagggcaatttGcaaagaattttaaagagtga	14	11	11	5	1	0	3	0	1	0	2	1	5	0	4	0	2	1	2	0	2	5	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:71164411G>A	ENST00000319023.2	+	1	257	c.69G>A	c.(67-69)ttG>ttA	p.L23L		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	23	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGGCAATTTGCAAAGAATTT	0.672													28	30					0	0	0	0	A	71164411	G	A	71164411	2	1	493	1	0	0	0	0	0	0	0	1	10208	1310	46	4		4	NADSYN1	11	71164411	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	3938527	71164411	63842105	102	95389											
NUMA1	4926	broad.mit.edu	37	chr11	71732293	71732293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattaaggtttagcccGtcctcatggtccagcacaaa	10	11	7	13	1	2	0	2	0	0	0	5	0	5	0	4	2	2	2	4	2	3	3	rs141785503	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:71732293G>A	ENST00000393695.3	-	8	748	c.417C>T	c.(415-417)gaC>gaT	p.D139D	NUMA1_ENST00000351960.6_Silent_p.D139D|NUMA1_ENST00000358965.6_Silent_p.D139D	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	139					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGTTTAGCCCGTCCTCATGGT	0.478			T	RARA	APL								10	131					0	0	0	0	A	71732293	G	A	71732293	2	1	493	1	0	0	0	0	0	0	0	1	10821	1136	40	1		1	NUMA1	11	71732293	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	567882	71732293	63274223	103	95390											
RSF1	51773	broad.mit.edu	37	chr11	77386244	77386244	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtcatcattagatggCggatcttcttcactttcatc	8	16	6	11	1	7	1	5	0	2	1	8	2	7	2	0	2	0	0	0	2	1	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:77386244C>T	ENST00000308488.6	-	14	3701	c.3399G>A	c.(3397-3399)ccG>ccA	p.P1133P	RSF1_ENST00000480887.1_Silent_p.P881P|RSF1_ENST00000360355.2_Silent_p.P1102P			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1133					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CATTAGATGGCGGATCTTCTT	0.448													38	36					0	0	0	0	T	77386244	C	T	77386244	2	4	493	1	0	0	0	0	0	0	0	1	13784	755	27	1		1	RSF1	11	77386244	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	5653951	77386244	57620272	104	95391											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844460	128844460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caagtccagggtaaagaatgGactcagtttctcctgaagag	13	9	11	8	0	2	3	1	1	1	2	4	4	3	4	2	2	0	2	2	2	5	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:128844460G>A	ENST00000310343.9	-	20	2589	c.2590C>T	c.(2590-2592)Cca>Tca	p.P864S	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P515S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P515S|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P790S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	864					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTAAAGAATGGACTCAGTTTC	0.458													24	121					0	0	0	0	A	128844460	G	A	128844460	3	1	493	1	0	0	0	0	1	0	0	0	883	1174	41	2	3685	2	ARHGAP32	11	128844460	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	51458216	128844460	6162056	105	95392											
NFRKB	4798	broad.mit.edu	37	chr11	129739989	129739989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacttggccaatgtggcCatcatgtccggagtgattcg	7	11	14	9	2	1	1	1	1	0	0	3	3	2	3	3	4	0	0	3	4	1	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:129739989C>T	ENST00000446488.3	-	23	3034	c.2931G>A	c.(2929-2931)atG>atA	p.M977I	NFRKB_ENST00000524794.1_Missense_Mutation_p.M1002I|NFRKB_ENST00000304521.5_Missense_Mutation_p.M977I|NFRKB_ENST00000524746.1_Missense_Mutation_p.M977I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	977					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCAATGTGGCCATCATGTCCG	0.557													62	75					0	0	0	0	T	129739989	C	T	129739989	3	4	493	1	0	0	0	0	1	0	0	0	10454	594	21	4	984	4	NFRKB	11	129739989	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	895529	129739989	5266527	106	95393											
NCAPD3	23310	broad.mit.edu	37	chr11	134023256	134023256	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtgacatcactgatgcTctctgcataaagaggagaca	15	8	9	9	1	2	4	1	2	1	2	3	5	2	4	0	1	3	2	0	1	3	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:134023256T>A	ENST00000534548.2	-	33	4319	c.4255A>T	c.(4255-4257)Agc>Tgc	p.S1419C	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1419					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCACTGATGCTCTCTGCATAA	0.552													64	97					0	0	0	0	A	134023256	T	A	134023256	3	1	493	1	0	0	0	0	1	0	0	0	10276	1551	54	5	253	5	NCAPD3	11	134023256	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	4283267	134023256	983260	107	95394											
PRB3	5544	broad.mit.edu	37	chr12	11422597	11422597	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccgacagcagaatcaGtagcatcttgctggaggctc	10	7	12	12	1	2	1	1	0	1	1	3	3	2	2	2	3	3	5	2	3	2	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:11422597G>A	ENST00000381842.3	-	0	44				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGCAGAATCAGTAGCATCTTG	0.542													43	60					0	0	0	0	A	11422597	G	A	11422597	1	1	493	0	1	0	0	0	0	0	0	0	12524	1020	36	4		4	PRB3	12	11422597	RNA	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		11422597	122429298	108	95395											
ART4	420	broad.mit.edu	37	chr12	14994042	14994042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctacagccttggtactgatCatcaaaagaacctggtgcga	12	9	10	10	1	2	2	2	1	0	1	2	3	2	2	2	2	5	2	2	2	5	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:14994042C>T	ENST00000228936.4	-	2	571	c.190G>A	c.(190-192)Gat>Aat	p.D64N	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	64					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TGGTACTGATCATCAAAAGAA	0.358													37	203					0	0	0	0	T	14994042	C	T	14994042	3	4	493	1	0	0	0	0	1	0	0	0	1003	826	29	2	762	2	ART4	12	14994042	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	3571445	14994042	118857853	109	95396											
PDE3A	5139	broad.mit.edu	37	chr12	20833114	20833114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagacccctcagtcgcactCttcagaacagatccaggcta	11	7	7	16	1	3	3	2	0	1	3	5	3	4	3	4	1	1	2	4	1	2	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:20833114C>G	ENST00000359062.3	+	16	3375	c.3335C>G	c.(3334-3336)tCt>tGt	p.S1112C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1112					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAGTCGCACTCTTCAGAACAG	0.478													25	145					0	0	0	0	G	20833114	C	G	20833114	3	3	493	1	0	0	0	0	1	0	0	0	11708	913	32	2	3397	2	PDE3A	12	20833114	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	5839072	20833114	113018781	110	95397											
PTPRB	5787	broad.mit.edu	37	chr12	70948979	70948979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgaagtatttcacagCtccattggtgtcgctgaacc	9	12	9	11	1	1	2	1	2	0	0	3	2	2	2	2	1	2	3	2	1	3	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:70948979C>T	ENST00000334414.6	-	20	5148	c.5104G>A	c.(5104-5106)Gct>Act	p.A1702T	PTPRB_ENST00000538708.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000451516.2_Missense_Mutation_p.A1394T|PTPRB_ENST00000261266.5_Missense_Mutation_p.A1484T|PTPRB_ENST00000550857.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000550358.1_Missense_Mutation_p.A1614T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1484					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TATTTCACAGCTCCATTGGTG	0.458													14	56					0	0	0	0	T	70948979	C	T	70948979	3	4	493	1	0	0	0	0	1	0	0	0	12878	797	28	4	1603	4	PTPRB	12	70948979	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	50115865	70948979	62902916	111	95398											
FGD6	55785	broad.mit.edu	37	chr12	95603800	95603800	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaactcaaattagagtcTttatcaaaagaaggtgccat	16	11	7	7	0	4	3	3	0	1	3	4	3	4	3	1	1	2	0	1	1	7	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:95603800T>C	ENST00000343958.4	-	2	1483	c.1260A>G	c.(1258-1260)aaA>aaG	p.K420K	FGD6_ENST00000546711.1_Silent_p.K420K|FGD6_ENST00000549499.1_Silent_p.K420K	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	420					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTAGAGTCTTTATCAAAAG	0.388													53	132					0	0	0	0	C	95603800	T	C	95603800	2	2	493	1	0	0	0	0	0	0	0	1	5882	1606	56	5		5	FGD6	12	95603800	Silent	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	24654821	95603800	38248095	112	95399											
APAF1	317	broad.mit.edu	37	chr12	99042592	99042592	+	Frame_Shift_Del	DEL	T	T	-																															gttagtggaataacttcgtaTggtttgtatccattatacct																										TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:99042592delT	ENST00000547743.1	+	3	533	c.327delT	c.(325-327)tafs	p.Y109fs	APAF1_ENST00000333991.1_Splice_Site_p.Y109_splice|APAF1_ENST00000339433.3_Splice_Site_p.Y109_splice|APAF1_ENST00000547045.1_Splice_Site_p.Y109_splice|APAF1_ENST00000550527.1_Intron|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000551964.1_Splice_Site_p.Y109_splice|APAF1_ENST00000357310.1_Splice_Site_p.Y109_splice|APAF1_ENST00000552268.1_Splice_Site_p.Y109_splice|APAF1_ENST00000549007.1_Splice_Site_p.Y109_splice			O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	109	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TAACTTCGTATGGTTTGTATC	0.373													24	104	---	---	---	---					-	99042592	T	-	99042592	7	5	493	1	0	1	0	1	0	0	0	0	756	1478	51	0	333	0	APAF1	12	99042592	Frame_Shift_Del	DEL	T	TCGA-UF-A71B-01A-12D-A34J-08	3438792	99042592	34809303	113	95400											
SRRM4	84530	broad.mit.edu	37	chr12	119583316	119583316	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccacgcaaaccagctCagccaggtctcggggccagg	9	4	11	17	2	2	0	1	0	1	0	4	0	3	0	5	4	3	2	5	4	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:119583316C>A	ENST00000267260.4	+	9	1290	c.902C>A	c.(901-903)tCa>tAa	p.S301*		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	301	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAAACCAGCTCAGCCAGGTCT	0.612													9	28					0.000274275	0.000285084	1	0	A	119583316	C	A	119583316	4	1	493	1	0	0	0	0	0	1	0	0	15261	838	29	2	936	2	SRRM4	12	119583316	Nonsense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	20540724	119583316	14268579	114	95401											
UBC	7316	broad.mit.edu	37	chr12	125397148	125397148	+	Silent	SNP	A	A	G																															acctcgagagtgatggtcttAccagtcagggtcttcacgaa																										TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:125397148A>G	ENST00000536769.1	-	1	2746	c.1170T>C	c.(1168-1170)ggT>ggC	p.G390G	UBC_ENST00000339647.5_Silent_p.G390G|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.G314G			P0CG48	UBC_HUMAN	ubiquitin C	390	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGATGGTCTTACCAGTCAGGG	0.532													21	306					0	0	0	0	G	125397148	A	G	125397148	2	3	493	1	0	0	0	0	0	0	0	1	16938	378	14	5		5	UBC	12	125397148	Silent	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	5813832	125397148	8454747	115	95402	1138	2									
UBC	7316	broad.mit.edu	37	chr12	125397154	125397154	+	Silent	SNP	C	C	G																															agagtgatggtcttaccagtCagggtcttcacgaagatctg																										TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:125397154C>G	ENST00000536769.1	-	1	2740	c.1164G>C	c.(1162-1164)ctG>ctC	p.L388L	UBC_ENST00000339647.5_Silent_p.L388L|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.L312L			P0CG48	UBC_HUMAN	ubiquitin C	388	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTACCAGTCAGGGTCTTCA	0.527													13	298					0	0	0	0	G	125397154	C	G	125397154	2	3	493	1	0	0	0	0	0	0	0	1	16938	813	29	2		2	UBC	12	125397154	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	6	125397154	8454741	116	95403	1138	2									
RFXAP	5994	broad.mit.edu	37	chr13	37401869	37401869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggagcaaagacaacagcaGtttccaggaacatcaatgtg	15	8	10	8	0	1	1	1	0	0	1	2	3	2	3	1	2	4	3	1	2	4	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:37401869G>C	ENST00000255476.2	+	3	932	c.798G>C	c.(796-798)caG>caC	p.Q266H	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	266	C-terminal domain.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GACAACAGCAGTTTCCAGGAA	0.343													9	38					0	0	0	0	C	37401869	G	C	37401869	3	2	493	1	0	0	0	0	1	0	0	0	13352	1020	36	4	808	4	RFXAP	13	37401869	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		37401869	77768009	117	95404											
SIAH3	283514	broad.mit.edu	37	chr13	46357982	46357982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccaggcggccttcccActggcaggagaacaagggac	10	4	12	15	1	0	1	0	0	0	1	2	3	2	2	4	5	1	1	4	5	2	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:46357982A>G	ENST00000400405.2	-	2	452	c.346T>C	c.(346-348)Tgg>Cgg	p.W116R		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	116					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CGGCCTTCCCACTGGCAGGAG	0.667													9	96					0	0	0	0	G	46357982	A	G	46357982	3	3	493	1	0	0	0	0	1	0	0	0	14389	159	6	5	467	5	SIAH3	13	46357982	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	8956113	46357982	68811896	118	95405											
PCDH20	64881	broad.mit.edu	37	chr13	61986738	61986738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcatagaactgctgtagCtcatagtccataggttttgt	10	15	8	8	0	2	1	2	0	0	1	3	1	3	1	1	1	3	4	1	1	5	7			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:61986738C>A	ENST00000409186.1	-	5	3599	c.1494G>T	c.(1492-1494)gaG>gaT	p.E498D	PCDH20_ENST00000409204.4_Missense_Mutation_p.E498D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	471	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACTGCTGTAGCTCATAGTCCA	0.393													42	145					2.24893e-16	2.53757e-16	1	0	A	61986738	C	A	61986738	3	1	493	1	0	0	0	0	1	0	0	0	11586	796	28	4	1365	4	PCDH20	13	61986738	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	15628756	61986738	53183140	119	95406											
PCCA	5095	broad.mit.edu	37	chr13	100962097	100962097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtttttagctaatcacatAtggctctgatagaactgagg	11	15	9	6	0	2	3	1	2	1	1	2	3	2	3	0	2	2	3	0	2	5	7			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:100962097A>G	ENST00000376285.1	+	16	1402	c.1364A>G	c.(1363-1365)tAt>tGt	p.Y455C	PCCA_ENST00000376286.4_Missense_Mutation_p.Y429C|PCCA_ENST00000376279.3_Missense_Mutation_p.Y455C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	455	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CTAATCACATATGGCTCTGAT	0.289													20	51					0	0	0	0	G	100962097	A	G	100962097	3	3	493	1	0	0	0	0	1	0	0	0	11575	449	16	5	1426	5	PCCA	13	100962097	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	38975359	100962097	14207781	120	95407											
MYH7	4625	broad.mit.edu	37	chr14	23902406	23902406	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacttgggtgggttctgctGcatcacctggtcctccttca	5	13	11	12	0	3	0	2	0	1	0	5	1	5	0	3	3	3	3	3	3	1	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:23902406G>A	ENST00000355349.3	-	4	394	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	78	Myosin head-like.				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			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)		GGGTTCTGCTGCATCACCTGG	0.587													28	83					0	0	0	0	A	23902406	G	A	23902406	4	1	493	1	0	0	0	0	0	1	0	0	10109	1328	46	4	5723	4	MYH7	14	23902406	Nonsense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		23902406	83447134	121	95408											
IRF9	10379	broad.mit.edu	37	chr14	24629157	24629157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaactccagctggctatgCcggcctgtgccagtgagtgc	7	8	14	12	1	0	1	0	1	0	0	1	2	1	2	4	3	5	2	4	3	2	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:24629157C>T	ENST00000558468.1	+	11	1409	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	RNF31_ENST00000324103.6_Missense_Mutation_p.A995V|RNF31_ENST00000382687.3_Missense_Mutation_p.A844V|RNF31_ENST00000559275.1_Missense_Mutation_p.A844V																							GCTGGCTATGCCGGCCTGTGC	0.592													4	123					0	0	0	0	T	24629157	C	T	24629157	3	4	493	1	0	0	0	0	1	0	0	0	7890	739	26	4		4	IRF9	14	24629157	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	726751	24629157	82720383	122	95409											
C14orf28	122525	broad.mit.edu	37	chr14	45373697	45373697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatctgaagatctggcGtatgtaccctattacttgga	11	13	10	7	1	2	2	0	1	2	1	2	4	2	4	1	3	2	2	1	3	6	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:45373697G>A	ENST00000325192.3	+	4	989	c.714G>A	c.(712-714)gcG>gcA	p.A238A	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Silent_p.A208A|C14orf28_ENST00000553841.1_3'UTR	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	238										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AAGATCTGGCGTATGTACCCT	0.348													23	108					0	0	0	0	A	45373697	G	A	45373697	2	1	493	1	0	0	0	0	0	0	0	1	1782	1132	40	1		1	C14orf28	14	45373697	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	20744540	45373697	61975843	123	95410											
ISM2	145501	broad.mit.edu	37	chr14	77948888	77948888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctctcctttgtagtctccCcagaggaaggaccagagggc	8	9	11	13	0	2	2	0	0	2	2	5	4	3	4	5	3	0	1	5	3	2	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:77948888C>A	ENST00000393684.3	-	5	877	c.486G>T	c.(484-486)tgG>tgT	p.W162C	ISM2_ENST00000412904.1_Missense_Mutation_p.W169C|ISM2_ENST00000429906.1_Missense_Mutation_p.W169C|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000342219.4_Missense_Mutation_p.W250C			Q6H9L7	ISM2_HUMAN	isthmin 2	250						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TGTAGTCTCCCCAGAGGAAGG	0.607													16	119					3.99206e-14	4.43328e-14	1	0	A	77948888	C	A	77948888	3	1	493	1	0	0	0	0	1	0	0	0	7914	624	22	4	981	4	ISM2	14	77948888	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	32575191	77948888	29400652	124	95411											
TYRO3	7301	broad.mit.edu	37	chr15	41870397	41870397	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagggcaggcagagcacCagccagagagtcccctcaat	12	3	12	14	0	1	2	1	0	0	2	2	3	2	2	5	2	3	3	5	2	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:41870397C>T	ENST00000263798.3	+	19	2820	c.2596C>T	c.(2596-2598)Cag>Tag	p.Q866*	TYRO3_ENST00000559066.1_Nonsense_Mutation_p.Q821*	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	866						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCAGAGCACCAGCCAGAGAG	0.632													12	61					0	0	0	0	T	41870397	C	T	41870397	4	4	493	1	0	0	0	0	0	1	0	0	16910	595	21	4	2670	4	TYRO3	15	41870397	Nonsense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08		41870397	60660995	125	95412											
GALK2	2585	broad.mit.edu	37	chr15	49531556	49531556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacagtgctgggaaggaatCtatccaaggtaactaccttt	12	11	9	9	0	2	0	1	0	1	0	3	2	3	2	2	3	3	2	2	3	6	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:49531556C>T	ENST00000327171.3	+	5	695	c.463C>T	c.(463-465)Cta>Tta	p.L155L	GALK2_ENST00000396509.2_Silent_p.L142L|GALK2_ENST00000544523.1_Silent_p.L142L|GALK2_ENST00000560031.1_Silent_p.L166L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000559454.1_Silent_p.L142L|GALK2_ENST00000543495.1_Silent_p.L37L	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	166					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GGGAAGGAATCTATCCAAGGT	0.453													20	39					0	0	0	0	T	49531556	C	T	49531556	2	4	493	1	0	0	0	0	0	0	0	1	6253	912	32	2		2	GALK2	15	49531556	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	7661159	49531556	52999836	126	95413											
DMXL2	23312	broad.mit.edu	37	chr15	51914710	51914710	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcagttgtctccagggttGacagctccggtgaggacctg	7	10	14	10	1	1	2	0	2	1	0	3	3	2	3	3	3	2	4	3	3	1	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:51914710G>A	ENST00000251076.5	-	1	320	c.33C>T	c.(31-33)gtC>gtT	p.V11V	DMXL2_ENST00000543779.2_Silent_p.V11V|DMXL2_ENST00000449909.3_Silent_p.V11V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	11						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCCAGGGTTGACAGCTCCGG	0.677													3	7					0	0	0	0	A	51914710	G	A	51914710	2	1	493	1	0	0	0	0	0	0	0	1	4632	1277	45	2		2	DMXL2	15	51914710	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	2383154	51914710	50616682	127	95414											
DENND4A	10260	broad.mit.edu	37	chr15	65989607	65989607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacttaaacaatacctacagGaactacaatcactccctttt	16	11	2	12	0	1	0	1	0	0	0	2	1	2	1	2	1	6	0	2	1	9	6			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:65989607G>A	ENST00000443035.3	-	21	3160	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F	DENND4A_ENST00000431932.2_Missense_Mutation_p.S939F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATACCTACAGGAACTACAATC	0.289													5	46					0	0	0	0	A	65989607	G	A	65989607	3	1	493	1	0	0	0	0	1	0	0	0	4470	1174	41	2	2827	2	DENND4A	15	65989607	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	14074897	65989607	36541785	128	95415											
PIGQ	9091	broad.mit.edu	37	chr16	624441	624441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcccccggtgcccctggtGaggaccaggtcatgctcatc	5	8	12	16	1	2	1	2	1	0	0	3	2	2	2	5	4	3	1	5	4	0	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:624441G>A	ENST00000321878.5	+	2	526	c.367G>A	c.(367-369)Gag>Aag	p.E123K	PIGQ_ENST00000026218.5_Missense_Mutation_p.E123K|PIGQ_ENST00000409527.2_Missense_Mutation_p.E123K|PIGQ_ENST00000470411.2_Missense_Mutation_p.E123K	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	123					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGCCCCTGGTGAGGACCAGGT	0.687													5	16					0	0	0	0	A	624441	G	A	624441	3	1	493	1	0	0	0	0	1	0	0	0	11968	1291	45	2	369	2	PIGQ	16	624441	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		624441	89730312	129	95416											
TSC2	7249	broad.mit.edu	37	chr16	2120559	2120559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctacaccctgccaatcGcgagcagcatccggctgcag	10	5	10	16	3	0	0	0	0	0	0	2	1	1	0	3	1	6	5	3	1	2	1	rs45517203	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:2120559G>A	ENST00000219476.3	+	17	2449	c.1819G>A	c.(1819-1821)Gcg>Acg	p.A607T	TSC2_ENST00000568454.1_Missense_Mutation_p.A618T|TSC2_ENST00000439673.2_Missense_Mutation_p.A570T|TSC2_ENST00000401874.2_Missense_Mutation_p.A607T|TSC2_ENST00000353929.4_Missense_Mutation_p.A607T|TSC2_ENST00000350773.4_Missense_Mutation_p.A607T|TSC2_ENST00000382538.6_Missense_Mutation_p.A558T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	607			A -> T.		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.A607T(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCCAATCGCGAGCAGCAT	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				29	62					0	0	0	0	A	2120559	G	A	2120559	3	1	493	1	0	0	0	0	1	0	0	0	16701	1087	38	1	1881	1	TSC2	16	2120559	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	1496118	2120559	88234194	130	95417											
GPR139	124274	broad.mit.edu	37	chr16	20043419	20043419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgtggcaaagatggaggTaatggtgaacaagatggcgg	14	7	17	3	1	0	3	0	1	0	2	0	4	0	4	0	6	1	2	0	6	5	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:20043419T>C	ENST00000570682.1	-	2	1000	c.700A>G	c.(700-702)Acc>Gcc	p.T234A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	234						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAGATGGAGGTAATGGTGAAC	0.522													30	97					0	0	0	0	C	20043419	T	C	20043419	3	2	493	1	0	0	0	0	1	0	0	0	6697	1638	57	5	365	5	GPR139	16	20043419	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	17922860	20043419	70311334	131	95418											
DHODH	1723	broad.mit.edu	37	chr16	72048493	72048493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgttgagataggaaGtgtgactccaaaacctcagg	11	12	12	6	0	1	2	1	2	0	1	2	4	2	3	2	3	1	2	2	3	4	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:72048493G>A	ENST00000572887.1	+	3	533	c.356G>A	c.(355-357)aGt>aAt	p.S119N	DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000219240.4_Missense_Mutation_p.S119N			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	119					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GAGATAGGAAGTGTGACTCCA	0.493													19	55					0	0	0	0	A	72048493	G	A	72048493	3	1	493	1	0	0	0	0	1	0	0	0	4521	1029	36	4	366	4	DHODH	16	72048493	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	52005074	72048493	18306260	132	95419											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840240	1840240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggccctcagcagcttcagGtcctggccgtgccgcagccc	4	7	12	18	3	2	0	2	0	0	0	4	0	3	0	5	3	4	3	5	3	0	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:1840240G>A	ENST00000331238.5	-	2	894	c.876C>T	c.(874-876)gaC>gaT	p.D292D		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	292	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCAGCTTCAGGTCCTGGCCGT	0.692													9	25					0	0	0	0	A	1840240	G	A	1840240	2	1	493	1	0	0	0	0	0	0	0	1	13816	1252	44	4		4	RTN4RL1	17	1840240	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		1840240	79354970	133	95420											
ZNF594	84622	broad.mit.edu	37	chr17	5086290	5086290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgtgaattctatgatgtCtcagaaggtctgagctctga	10	13	10	8	0	4	5	1	4	4	1	5	5	4	5	0	1	1	1	0	1	3	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:5086290C>G	ENST00000399604.4	-	1	1402	c.1262G>C	c.(1261-1263)aGa>aCa	p.R421T	ZNF594_ENST00000575779.1_Missense_Mutation_p.R421T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R421I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTATGATGTCTCAGAAGGTC	0.403													85	271					0	0	0	0	G	5086290	C	G	5086290	3	3	493	1	0	0	0	0	1	0	0	0	18119	913	32	2	1165	2	ZNF594	17	5086290	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	3246050	5086290	76108920	134	95421											
TP53	7157	broad.mit.edu	37	chr17	7577157	7577157	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtcccagtagattaccacTactcaggataggaaaagaga	15	7	9	10	1	1	2	1	0	0	2	2	5	2	4	3	2	2	1	3	2	6	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:7577157T>G	ENST00000420246.2	-	8	915		c.e8-2		TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATA	0.512		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)			4	18					0	0	0	0	G	7577157	T	G	7577157	5	3	493	1	0	0	0	0	0	0	1	0	16476	1536	53	5	505	5	TP53	17	7577157	Splice_Site	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	2490867	7577157	73618053	135	95422											
HES7	84667	broad.mit.edu	37	chr17	8025100	8025100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcgctggtgcagcgcaGggccaagggccggtgcggcg	4	3	23	11	5	0	0	0	0	0	0	0	0	0	0	2	7	3	3	2	7	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:8025100G>A	ENST00000541682.2	-	4	481	c.482C>T	c.(481-483)cCt>cTt	p.P161L	HES7_ENST00000317814.4_Missense_Mutation_p.P156L	NM_001165967.1|NM_032580.3	NP_001159439.1|NP_115969.2	Q9BYE0	HES7_HUMAN	hes family bHLH transcription factor 7	156	Pro-rich.				mesoderm development|transcription, DNA-dependent	nucleus	DNA binding										GTGCAGCGCAGGGCCAAGGGC	0.761													8	11					0	0	0	0	A	8025100	G	A	8025100	3	1	493	1	0	0	0	0	1	0	0	0	7121	1000	35	4	214	4	HES7	17	8025100	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	447943	8025100	73170110	136	95423											
PIK3R5	23533	broad.mit.edu	37	chr17	8789598	8789598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacccagctccaaggagtgGatgaagatctctgtcgtctt	9	11	11	10	1	2	3	0	2	2	1	5	5	3	5	2	2	1	1	2	2	2	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:8789598G>T	ENST00000447110.1	-	14	2200	c.2076C>A	c.(2074-2076)atC>atA	p.I692I	PIK3R5_ENST00000581552.1_Silent_p.I692I|PIK3R5_ENST00000584803.1_Silent_p.I691I	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	692	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCAAGGAGTGGATGAAGATCT	0.607													15	34					1.3612e-06	1.44329e-06	1	0	T	8789598	G	T	8789598	2	4	493	1	0	0	0	0	0	0	0	1	11994	1164	41	2		2	PIK3R5	17	8789598	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	764498	8789598	72405612	137	95424											
PROCA1	147011	broad.mit.edu	37	chr17	27031202	27031202	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtggatggtggatcactgCcacagagacaggtctgtagc	10	8	15	8	0	2	1	1	0	1	1	2	5	2	3	1	4	2	1	1	4	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:27031202C>T	ENST00000581289.1	-	2	206	c.120G>A	c.(118-120)tgG>tgA	p.W40*	PROCA1_ENST00000439862.3_Missense_Mutation_p.A131T|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000301039.2_Missense_Mutation_p.A129T			Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	0					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TGGATCACTGCCACAGAGACA	0.562													36	79					0	0	0	0	T	27031202	C	T	27031202	4	4	493	1	0	0	0	0	0	1	0	0	12626	739	26	4	629	4	PROCA1	17	27031202	Nonsense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	18241604	27031202	54164008	138	95425											
TAF15	8148	broad.mit.edu	37	chr17	34171794	34171794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggaggctatggtggagaCcgaggaggctatggaggaga	10	6	21	4	1	0	2	0	0	0	2	0	8	0	5	1	9	0	2	1	9	2	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34171794C>G	ENST00000588240.1	+	15	1606	c.1491C>G	c.(1489-1491)gaC>gaG	p.D497E	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.D494E	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	497	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		atggtggagaccgaggaggct	0.612			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								6	33					0	0	0	0	G	34171794	C	G	34171794	3	3	493	1	0	0	0	0	1	0	0	0	15609	506	18	4	1549	4	TAF15	17	34171794	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	7140592	34171794	47023416	139	95426											
TBC1D3C	414060	broad.mit.edu	37	chr17	34587271	34587271	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttacttggttccgtatcGatccctgaagaacatatgct	9	13	9	10	2	0	2	0	1	0	1	3	3	2	2	2	2	3	4	2	2	5	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34587271G>A	ENST00000336331.5	-	6	1237	c.484C>T	c.(484-486)Cga>Tga	p.R162*	TBC1D3C_ENST00000457979.3_Nonsense_Mutation_p.R162*|TBC1D3H_ENST00000400684.4_Intron|TBC1D3C_ENST00000308078.7_Nonsense_Mutation_p.R162*|TBC1D3C_ENST00000451448.2_Nonsense_Mutation_p.R162*|TBC1D3H_ENST00000535446.1_Intron			Q6IPX1	TBC3C_HUMAN	TBC1 domain family, member 3C	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			kidney(5)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.557													126	699					0	0	0	0	A	34587271	G	A	34587271	4	1	493	1	0	0	0	0	0	1	0	0	15713	1066	37	1	1197	1	TBC1D3C	17	34587271	Nonsense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	415477	34587271	46607939	140	95427											
MYO19	80179	broad.mit.edu	37	chr17	34871782	34871782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggctctcccaagatgcagGtgaggtggccaccacagcat	9	7	13	12	0	1	2	0	1	1	1	2	2	1	2	3	4	2	3	3	4	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34871782G>A	ENST00000431794.3	-	7	988	c.466C>T	c.(466-468)Cct>Tct	p.P156S	MYO19_ENST00000544606.1_Missense_Mutation_p.P22S|MYO19_ENST00000268852.9_Missense_Mutation_p.P156S|MYO19_ENST00000586007.1_Missense_Mutation_p.P156S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	156	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAAGATGCAGGTGAGGTGGCC	0.537													10	31					0	0	0	0	A	34871782	G	A	34871782	3	1	493	1	0	0	0	0	1	0	0	0	10137	1261	44	4	2586	4	MYO19	17	34871782	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	284511	34871782	46323428	141	95428											
KRT34	3885	broad.mit.edu	37	chr17	39538023	39538023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttcaccaccagcctggCattctcagccttggcacaca	10	9	7	15	0	2	0	2	0	1	0	3	0	2	0	4	2	2	3	4	2	1	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:39538023C>A	ENST00000394001.1	-	2	529	c.499G>T	c.(499-501)Gcc>Tcc	p.A167S		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	167	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACCAGCCTGGCATTCTCAGCC	0.458													27	142					2.48779e-11	2.73398e-11	1	0	A	39538023	C	A	39538023	3	1	493	1	0	0	0	0	1	0	0	0	8523	710	25	4	835	4	KRT34	17	39538023	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	4666241	39538023	41657187	142	95429											
HEXIM2	124790	broad.mit.edu	37	chr17	43246481	43246481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagagccactcagaggatGaagatcttgctggggctgtc	9	9	15	8	0	2	4	1	1	1	3	3	6	2	5	1	4	2	2	1	4	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:43246481G>A	ENST00000307275.3	+	4	602	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E56K|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E56K	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	56					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						CTCAGAGGATGAAGATCTTGC	0.672													52	150					0	0	0	0	A	43246481	G	A	43246481	3	1	493	1	0	0	0	0	1	0	0	0	7127	1291	45	2	172	2	HEXIM2	17	43246481	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	3708458	43246481	37948729	143	95430											
B4GALNT2	124872	broad.mit.edu	37	chr17	47219490	47219490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagcgacctcccagcGgtgaaagcgaggagacaggc	11	2	16	12	3	0	3	0	1	0	2	1	6	1	3	3	4	3	0	3	4	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:47219490G>A	ENST00000300404.2	+	3	548	c.489G>A	c.(487-489)gcG>gcA	p.A163A	B4GALNT2_ENST00000504681.1_Silent_p.A77A|B4GALNT2_ENST00000393354.2_Silent_p.A103A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	163					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACCTCCCAGCGGTGAAAGCGA	0.507													28	81					0	0	0	0	A	47219490	G	A	47219490	2	1	493	1	0	0	0	0	0	0	0	1	1271	1103	39	1		1	B4GALNT2	17	47219490	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	3973009	47219490	33975720	144	95431											
DDX5	1655	broad.mit.edu	37	chr17	62499311	62499311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaggacacttactcttaTttgatccacaatcttcctta	12	15	3	11	0	3	1	1	1	2	0	5	2	5	2	2	1	1	0	2	1	5	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:62499311T>C	ENST00000225792.5	-	7	1206	c.805A>G	c.(805-807)Ata>Gta	p.I269V	DDX5_ENST00000578804.1_Missense_Mutation_p.I269V|DDX5_ENST00000450599.2_Missense_Mutation_p.I190V	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	269	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTTACTCTTATTTGATCCACA	0.363			T	ETV4	prostate								53	163					0	0	0	0	C	62499311	T	C	62499311	3	2	493	1	0	0	0	0	1	0	0	0	4399	1493	52	5	1067	5	DDX5	17	62499311	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	15279821	62499311	18695899	145	95432											
WIPI1	55062	broad.mit.edu	37	chr17	66422259	66422259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagacacactggtcccgtcGcaaactcatgttcaggaata	13	8	8	12	2	2	1	2	0	0	1	4	2	3	2	1	2	1	2	1	2	4	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:66422259G>A	ENST00000262139.5	-	12	1249	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	WIPI1_ENST00000589459.1_5'UTR|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000546360.1_Missense_Mutation_p.A335V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	417					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGGTCCCGTCGCAAACTCATG	0.507													23	62					0	0	0	0	A	66422259	G	A	66422259	3	1	493	1	0	0	0	0	1	0	0	0	17466	1087	38	1	98	1	WIPI1	17	66422259	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	3922948	66422259	14772951	146	95433											
UNK	85451	broad.mit.edu	37	chr17	73813557	73813557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagaaggctcccggcttcGagagggaagaccaggtggga	12	5	16	8	2	0	3	0	0	0	3	2	6	1	5	2	5	0	2	2	5	3	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:73813557G>A	ENST00000293218.3	+	10	1483	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	UNK_ENST00000589666.1_Missense_Mutation_p.E419K			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	419							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCGGCTTCGAGAGGGAAGA	0.612													7	30					0	0	0	0	A	73813557	G	A	73813557	3	1	493	1	0	0	0	0	1	0	0	0	17096	1059	37	1	1521	1	UNK	17	73813557	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	7391298	73813557	7381653	147	95434											
ENOSF1	55556	broad.mit.edu	37	chr18	688598	688598	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccatccttcagcgccTgggcacagagctgtgggaaa	9	7	12	13	1	1	1	1	0	0	1	3	2	3	2	4	2	3	2	4	2	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr18:688598T>C	ENST00000383578.3	-	8	587	c.383A>G	c.(382-384)cAg>cGg	p.Q128R	ENOSF1_ENST00000580982.1_Missense_Mutation_p.Q134R|ENOSF1_ENST00000340116.7_Missense_Mutation_p.Q231R|ENOSF1_ENST00000251101.7_Missense_Mutation_p.Q210R	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	210					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CTTCAGCGCCTGGGCACAGAG	0.562													3	43					0	0	0	0	C	688598	T	C	688598	3	2	493	1	0	0	0	0	1	0	0	0	5163	1580	55	5	734	5	ENOSF1	18	688598	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08		688598	77388650	148	95435											
PTPRM	5797	broad.mit.edu	37	chr18	8085846	8085846	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttgggcctccagcaacaAaccagttcaccaccaaaata	14	8	6	13	0	1	0	1	0	0	0	2	0	2	0	5	1	3	3	5	1	5	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr18:8085846A>T	ENST00000332175.8	+	10	2766	c.1729A>T	c.(1729-1731)Aac>Tac	p.N577Y	PTPRM_ENST00000444013.1_Missense_Mutation_p.N364Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.N515Y|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.N577Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.N577Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	577	Fibronectin type-III 3.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCCAGCAACAAACCAGTTCAC	0.418													4	107					0	0	0	0	T	8085846	A	T	8085846	3	4	493	1	0	0	0	0	1	0	0	0	12888	14	1	5	1767	5	PTPRM	18	8085846	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	7397248	8085846	69991402	149	95436											
ZNF441	126068	broad.mit.edu	37	chr19	11892651	11892651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtatggagaaaccctAtaagtgtaaagaatgtgggg	15	8	12	6	0	0	2	0	0	0	2	0	3	0	2	2	3	1	2	2	3	7	4	rs138221659		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:11892651A>G	ENST00000357901.4	+	4	2114	c.2012A>G	c.(2011-2013)tAt>tGt	p.Y671C	ZNF441_ENST00000454339.2_Missense_Mutation_p.Y604C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAAACCCTATAAGTGTAAA	0.398													31	65					0	0	0	0	G	11892651	A	G	11892651	3	3	493	1	0	0	0	0	1	0	0	0	18009	449	16	5	2026	5	ZNF441	19	11892651	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08		11892651	47236332	150	95437											
PKN1	5585	broad.mit.edu	37	chr19	14581479	14581479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgtcggccgaagccatCggcatcatgagaagggtgag	9	8	14	10	3	1	2	1	2	0	1	4	4	2	2	3	3	1	1	3	3	2	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:14581479C>T	ENST00000242783.6	+	20	2694	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	PKN1_ENST00000342216.4_Silent_p.I849I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	843	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCGAAGCCATCGGCATCATGA	0.657													10	41					0	0	0	0	T	14581479	C	T	14581479	2	4	493	1	0	0	0	0	0	0	0	1	12051	874	31	1		1	PKN1	19	14581479	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	2688828	14581479	44547504	151	95438											
ZNF682	91120	broad.mit.edu	37	chr19	20117799	20117799	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgcatacatttgaaaagtTtctctgtagtatgtcttatg	11	18	7	5	0	2	1	0	1	2	0	3	1	2	1	0	0	2	4	0	0	6	7			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:20117799T>A	ENST00000397165.2	-	4	672	c.512A>T	c.(511-513)aAa>aTa	p.K171I	ZNF682_ENST00000595736.1_Missense_Mutation_p.K95I|ZNF682_ENST00000597972.1_Missense_Mutation_p.K177I|ZNF682_ENST00000397162.1_Missense_Mutation_p.K139I|ZNF682_ENST00000358523.5_Missense_Mutation_p.K139I|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTGAAAAGTTTCTCTGTAGT	0.313													24	83					0	0	0	0	A	20117799	T	A	20117799	3	1	493	1	0	0	0	0	1	0	0	0	18184	1841	64	5	988	5	ZNF682	19	20117799	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	5536320	20117799	39011184	152	95439											
PSG3	5671	broad.mit.edu	37	chr19	43233953	43233953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacattcagggtgactgggTaactgcggatgccaccatat	10	9	13	9	1	1	1	1	1	0	0	1	3	1	3	2	4	3	1	2	4	2	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:43233953T>C	ENST00000327495.5	-	4	1149	c.965A>G	c.(964-966)tAc>tGc	p.Y322C	PSG3_ENST00000595140.1_Missense_Mutation_p.Y322C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	322	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTGACTGGGTAACTGCGGAT	0.493													59	168					0	0	0	0	C	43233953	T	C	43233953	3	2	493	1	0	0	0	0	1	0	0	0	12735	1638	57	5	333	5	PSG3	19	43233953	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	23116154	43233953	15895030	153	95440											
PSG3	5671	broad.mit.edu	37	chr19	43242949	43242949	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacgatgtgtaaggtgtaGgatcctgcgtcctcccgggt	6	13	13	9	3	0	0	0	0	0	0	3	2	3	1	3	3	2	2	3	3	3	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:43242949G>T	ENST00000327495.5	-	2	541	c.357C>A	c.(355-357)tcC>tcA	p.S119S	PSG3_ENST00000595140.1_Silent_p.S119S|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	119	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTAAGGTGTAGGATCCTGCGT	0.478													9	588					5.4927e-09	5.91306e-09	1	0	T	43242949	G	T	43242949	2	4	493	1	0	0	0	0	0	0	0	1	12735	987	35	4		4	PSG3	19	43242949	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	8996	43242949	15886034	154	95441											
CACNG7	59284	broad.mit.edu	37	chr19	54416163	54416163	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctgctcctggtaggcatCgcggtcagcactgactactg	6	9	13	13	2	1	1	1	1	0	0	3	1	2	1	2	4	3	4	2	4	2	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:54416163C>T	ENST00000391767.1	+	2	290	c.78C>T	c.(76-78)atC>atT	p.I26I	CACNG7_ENST00000222212.2_Silent_p.I26I|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Silent_p.I26I			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	26					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTAGGCATCGCGGTCAGCA	0.647													18	53					0	0	0	0	T	54416163	C	T	54416163	2	4	493	1	0	0	0	0	0	0	0	1	2587	874	31	1		1	CACNG7	19	54416163	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	11173214	54416163	4712820	155	95442											
CACNG8	59283	broad.mit.edu	37	chr19	54485394	54485394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcgggcgagccgggccCgaagcgggacgaggagaaga	11	0	19	11	7	0	2	0	0	0	2	0	7	0	3	2	4	3	0	2	4	3	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:54485394C>T	ENST00000270458.2	+	4	672	c.569C>T	c.(568-570)cCg>cTg	p.P190L		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GAGCCGGGCCCGAAGCGGGAC	0.657													6	26					0	0	0	0	T	54485394	C	T	54485394	3	4	493	1	0	0	0	0	1	0	0	0	2588	652	23	1	583	1	CACNG8	19	54485394	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	69231	54485394	4643589	156	95443											
EPS8L1	54869	broad.mit.edu	37	chr19	55593237	55593237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagcaccgggaacgcGgccgcaggagccggcgccgg	6	2	19	14	7	0	0	0	0	0	0	0	3	0	3	4	6	4	3	4	6	1	0			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:55593237G>A	ENST00000201647.6	+	9	927	c.871G>A	c.(871-873)Ggc>Agc	p.G291S	EPS8L1_ENST00000586329.1_Missense_Mutation_p.G273S|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.G164S|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000540810.1_Missense_Mutation_p.G227S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	291						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGGGAACGCGGCCGCAGGAG	0.672													10	25					0	0	0	0	A	55593237	G	A	55593237	3	1	493	1	0	0	0	0	1	0	0	0	5233	1116	39	1	953	1	EPS8L1	19	55593237	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	1107843	55593237	3535746	157	95444											
ADAM33	80332	broad.mit.edu	37	chr20	3654462	3654462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcaggaaggcccagaGcgtggcgttggcgtcctgcg	6	6	16	13	4	0	1	0	0	0	1	1	2	1	2	3	4	3	2	3	4	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:3654462G>A	ENST00000356518.2	-	9	1076	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	ADAM33_ENST00000350009.2_Missense_Mutation_p.L279F|ADAM33_ENST00000379861.4_Missense_Mutation_p.L279F	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	279	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AAGGCCCAGAGCGTGGCGTTG	0.721													5	7					0	0	0	0	A	3654462	G	A	3654462	3	1	493	1	0	0	0	0	1	0	0	0	250	971	34	4	1662	4	ADAM33	20	3654462	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08		3654462	59371058	158	95445											
TMX4	56255	broad.mit.edu	37	chr20	7964485	7964485	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggcacatagaaacatTctgatattaccaccaagacc	16	8	7	10	0	1	3	0	1	1	2	1	4	1	3	3	1	2	1	3	1	6	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:7964485T>G	ENST00000246024.2	-	7	850	c.635A>C	c.(634-636)gAa>gCa	p.E212A		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	212					cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ATAGAAACATTCTGATATTAC	0.388													21	58					0	0	0	0	G	7964485	T	G	7964485	3	3	493	1	0	0	0	0	1	0	0	0	16363	1783	62	5	422	5	TMX4	20	7964485	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	4310023	7964485	55061035	159	95446											
PTPRT	11122	broad.mit.edu	37	chr20	41306562	41306562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtcccgtacccccctcaCctggtcgtgtgaggagcact	5	8	12	16	3	1	1	1	1	0	0	3	2	2	2	5	3	2	2	5	3	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:41306562C>T	ENST00000373198.3	-	7	1332	c.1097G>A	c.(1096-1098)gGt>gAt	p.G366D	PTPRT_ENST00000356100.2_Missense_Mutation_p.G366D|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373190.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373201.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373193.3_Missense_Mutation_p.G366D|PTPRT_ENST00000373187.1_Missense_Mutation_p.G366D	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	366	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.G366V(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)				ACCCCCCTCACCTGGTCGTGT	0.562													7	139					0	0	0	0	T	41306562	C	T	41306562	3	4	493	1	0	0	0	0	1	0	0	0	12894	507	18	4	3389	4	PTPRT	20	41306562	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	33342077	41306562	21718958	160	95447											
SLC13A3	64849	broad.mit.edu	37	chr20	45224886	45224886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtaggggatggagatgAggaagcccttccagatgttc	10	9	15	7	0	0	4	0	2	0	2	2	7	1	6	2	4	1	2	2	4	2	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:45224886A>T	ENST00000279027.4	-	5	722	c.704T>A	c.(703-705)cTc>cAc	p.L235H	SLC13A3_ENST00000290317.5_Missense_Mutation_p.L188H|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.S213T|SLC13A3_ENST00000495082.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S213T	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	235						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GATGGAGATGAGGAAGCCCTT	0.567													26	73					0	0	0	0	T	45224886	A	T	45224886	3	4	493	1	0	0	0	0	1	0	0	0	14481	304	11	5	1140	5	SLC13A3	20	45224886	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	3918324	45224886	17800634	161	95448											
CSTF1	1477	broad.mit.edu	37	chr20	54972508	54972508	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagatacttgacacagagAggatgttggccaaaagtgcc	15	8	11	7	0	0	3	0	1	0	2	0	5	0	4	2	2	2	1	2	2	5	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:54972508A>T	ENST00000217109.4	+	3	767	c.415A>T	c.(415-417)Agg>Tgg	p.R139W	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	139					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TGACACAGAGAGGATGTTGGC	0.398													44	129					0	0	0	0	T	54972508	A	T	54972508	3	4	493	1	0	0	0	0	1	0	0	0	4015	295	11	5	421	5	CSTF1	20	54972508	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	9747622	54972508	8053012	162	95449											
STMN3	50861	broad.mit.edu	37	chr20	62284693	62284693	+	Frame_Shift_Del	DEL	G	G	-																															agcctaccggaaatggtgctGgccatggtgctggcggcggt																										TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:62284693delG	ENST00000370053.1	-	1	87	c.6delC	c.(4-6)gcfs	p.A2fs		NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	2					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			AAATGGTGCTGGCCATGGTGC	0.741											OREG0006921	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=STMN3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2	4	---	---	---	---					-	62284693	G	-	62284693	7	5	493	1	0	1	0	1	0	0	0	0	15400	1335	47	0	556	0	STMN3	20	62284693	Frame_Shift_Del	DEL	G	TCGA-UF-A71B-01A-12D-A34J-08	7312185	62284693	740827	163	95450											
LCA5L	150082	broad.mit.edu	37	chr21	40778134	40778134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctctagctccatttcctCtctgttactgagatgcttgc	6	16	7	12	0	2	1	0	1	2	1	5	2	4	1	2	0	5	4	2	0	2	4			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:40778134C>T	ENST00000358268.2	-	10	2215	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Missense_Mutation_p.E563K|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000380671.2_Missense_Mutation_p.E563K			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	563										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TCCATTTCCTCTCTGTTACTG	0.463													13	107					0	0	0	0	T	40778134	C	T	40778134	3	4	493	1	0	0	0	0	1	0	0	0	8710	922	32	2	329	2	LCA5L	21	40778134	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08		40778134	7351761	164	95451											
COL18A1	80781	broad.mit.edu	37	chr21	46930061	46930061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtgcttccagcaggcGcgggccgtggggctggcggg	3	7	19	12	4	0	0	0	0	0	0	2	0	2	0	3	6	2	3	3	6	0	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:46930061G>A	ENST00000359759.4	+	39	4845	c.4824G>A	c.(4822-4824)gcG>gcA	p.A1608A	COL18A1_ENST00000400337.2_Silent_p.A1193A|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Silent_p.A1373A			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1608	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCAGCAGGCGCGGGCCGTGG	0.736													7	8					0	0	0	0	A	46930061	G	A	46930061	2	1	493	1	0	0	0	0	0	0	0	1	3705	1074	38	1		1	COL18A1	21	46930061	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	6151927	46930061	1199834	165	95452											
MCM3AP	8888	broad.mit.edu	37	chr21	47663601	47663601	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggggatctgggaggcgtActggacaaccatggagcaca	10	6	16	9	1	1	0	0	0	1	0	1	4	1	4	1	6	3	3	1	6	2	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:47663601A>C	ENST00000397708.1	-	25	5328	c.5074T>G	c.(5074-5076)Tac>Gac	p.Y1692D	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Y1692D|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1692					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGGAGGCGTACTGGACAACC	0.547													11	51					0	0	0	0	C	47663601	A	C	47663601	3	2	493	1	0	0	0	0	1	0	0	0	9457	391	14	5	888	5	MCM3AP	21	47663601	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	733540	47663601	466294	166	95453											
HIRA	7290	broad.mit.edu	37	chr22	19384466	19384466	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctctcagagtagctagAatttctgtgaagaaaaaagg	15	10	10	6	0	2	5	1	2	2	3	3	5	2	5	1	1	1	2	1	1	7	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:19384466A>T	ENST00000263208.5	-	7	754	c.498T>A	c.(496-498)atT>atA	p.I166I	HIRA_ENST00000546308.1_Silent_p.I122I|HIRA_ENST00000541063.1_Silent_p.I122I|HIRA_ENST00000340170.4_Silent_p.I166I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	166					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GAGTAGCTAGAATTTCTGTGA	0.478													18	76					0	0	0	0	T	19384466	A	T	19384466	2	4	493	1	0	0	0	0	0	0	0	1	7170	242	9	5		5	HIRA	22	19384466	Silent	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08		19384466	31920100	167	95454											
ARVCF	421	broad.mit.edu	37	chr22	19969065	19969065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctcggggccttcgggaaAgccacccccactgctgaggt	6	6	15	14	2	0	1	0	1	0	0	2	2	0	2	4	5	2	2	4	5	1	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:19969065A>T	ENST00000263207.3	-	5	856	c.565T>A	c.(565-567)Ttt>Att	p.F189I	ARVCF_ENST00000401994.1_Missense_Mutation_p.F126I|ARVCF_ENST00000406259.1_Missense_Mutation_p.F189I|ARVCF_ENST00000344269.3_Missense_Mutation_p.F126I|ARVCF_ENST00000406522.1_Missense_Mutation_p.F126I|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	189					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCTTCGGGAAAGCCACCCCCA	0.701													8	40					0	0	0	0	T	19969065	A	T	19969065	3	4	493	1	0	0	0	0	1	0	0	0	1007	72	3	5	2383	5	ARVCF	22	19969065	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	584599	19969065	31335501	168	95455											
BCR	613	broad.mit.edu	37	chr22	23603613	23603613	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagcagatcgagaccatCttcttcaaagtgcctgagct	11	10	9	11	1	4	3	2	1	2	2	5	4	4	3	2	0	3	2	2	0	1	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:23603613C>A	ENST00000305877.8	+	4	2389	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	BCR_ENST00000359540.3_Silent_p.I546I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	546	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TCGAGACCATCTTCTTCAAAG	0.592			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								78	85					5.02462e-34	5.79342e-34	1	0	A	23603613	C	A	23603613	2	1	493	1	0	0	0	0	0	0	0	1	1392	903	32	2		2	BCR	22	23603613	Silent	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	3634548	23603613	27700953	169	95456											
MN1	4330	broad.mit.edu	37	chr22	28146992	28146992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaggctcgagccttggCgtcacccacgtcgtctgtgc	5	8	13	15	5	2	0	1	0	1	0	4	2	2	1	2	3	2	1	2	3	0	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:28146992C>T	ENST00000302326.4	-	2	4828	c.3874G>A	c.(3874-3876)Gcc>Acc	p.A1292T	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1292							binding	p.A1292T(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGAGCCTTGGCGTCACCCACG	0.592			T	ETV6	"AML, meningioma"								23	89					0	0	0	0	T	28146992	C	T	28146992	3	4	493	1	0	0	0	0	1	0	0	0	9743	768	27	1	92	1	MN1	22	28146992	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	4543379	28146992	23157574	170	95457											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31867888	31867888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatgggggagttcttttaTatccaagagttcttcctaaa	11	14	10	6	0	2	1	0	0	2	1	4	3	4	3	2	3	0	2	2	3	6	7			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:31867888T>C	ENST00000397525.1	-	3	335	c.112A>G	c.(112-114)Ata>Gta	p.I38V	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.I38V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	38						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTCTTTTATATCCAAGAGT	0.343													33	130					0	0	0	0	C	31867888	T	C	31867888	3	2	493	1	0	0	0	0	1	0	0	0	5073	1406	49	5	2916	5	EIF4ENIF1	22	31867888	Missense_Mutation	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	3720896	31867888	19436678	171	95458											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044054	51044054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgtgttggtggaggccGaggaggacgacttctggttc	6	10	16	9	2	1	0	0	0	1	0	2	5	1	3	2	6	0	2	2	6	0	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:51044054G>A	ENST00000399908.2	+	5	1824	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E341K|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.E370K|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E256K|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.E635K|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E358K	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	636					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGAGGCCGAGGAGGACGA	0.662													9	31					0	0	0	0	A	51044054	G	A	51044054	3	1	493	1	0	0	0	0	1	0	0	0	9354	1059	37	1	2021	1	MAPK8IP2	22	51044054	Missense_Mutation	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	19176166	51044054	260512	172	95459											
CTPS2	56474	broad.mit.edu	37	chrX	16717105	16717105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgatcacatgctgatatAtcttccccgtggtgatattg	9	16	8	8	1	2	3	1	3	1	0	3	3	3	3	2	1	1	1	2	1	4	7			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:16717105A>G	ENST00000443824.1	-	3	1021	c.278T>C	c.(277-279)aTa>aCa	p.I93T	CTPS2_ENST00000380241.3_Missense_Mutation_p.I93T|CTPS2_ENST00000359276.4_Missense_Mutation_p.I93T	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	93					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATGCTGATATATCTTCCCCGT	0.373													33	115					0	0	0	0	G	16717105	A	G	16717105	3	3	493	1	0	0	0	0	1	0	0	0	4055	449	16	5	1546	5	CTPS2	23	16717105	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08		16717105	138553455	173	95460											
SHROOM4	57477	broad.mit.edu	37	chrX	50376688	50376688	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtaaaagtcttgttgctAtgagtggttaaacctggcaa	11	13	12	5	0	1	1	0	1	1	0	1	1	1	1	1	3	2	5	1	3	6	5			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:50376688A>G	ENST00000376020.2	-	4	2410	c.2385T>C	c.(2383-2385)caT>caC	p.H795H	SHROOM4_ENST00000460112.3_Silent_p.H679H|SHROOM4_ENST00000289292.7_Silent_p.H795H	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	795					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTTGTTGCTATGAGTGGTTA	0.453													51	44					0	0	0	0	G	50376688	A	G	50376688	2	3	493	1	0	0	0	0	0	0	0	1	14384	446	16	5		5	SHROOM4	23	50376688	Silent	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	33659583	50376688	104893872	174	95461											
TBX22	50945	broad.mit.edu	37	chrX	79281235	79281235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatcatcagctttgatCgcatgaaactcaccaacaat	14	9	7	11	1	3	3	3	2	0	1	4	3	3	3	1	1	3	3	1	1	3	1			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:79281235C>A	ENST00000442340.1	+	5	722	c.232C>A	c.(232-234)Cgc>Agc	p.R78S	TBX22_ENST00000373294.5_Missense_Mutation_p.R198S|TBX22_ENST00000373296.3_Missense_Mutation_p.R198S|TBX22_ENST00000373291.1_Missense_Mutation_p.R78S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	198					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCTTTGATCGCATGAAACT	0.527													10	12					0.000442599	0.000457787	1	0	A	79281235	C	A	79281235	3	1	493	1	0	0	0	0	1	0	0	0	15752	884	31	3	606	3	TBX22	23	79281235	Missense_Mutation	SNP	C	TCGA-UF-A71B-01A-12D-A34J-08	28904547	79281235	75989325	175	95462											
PABPC5	140886	broad.mit.edu	37	chrX	90691385	90691385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgatggaaaagtcctctAtgtagggcgagcacagaaga	14	7	12	8	2	1	2	0	0	1	2	3	5	2	3	1	2	1	2	1	2	5	2			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:90691385A>G	ENST00000312600.3	+	2	1023	c.809A>G	c.(808-810)tAt>tGt	p.Y270C	PABPC5_ENST00000373105.1_Missense_Mutation_p.Y106C	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	270	RRM 3.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAAGTCCTCTATGTAGGGCGA	0.488													14	40					0	0	0	0	G	90691385	A	G	90691385	3	3	493	1	0	0	0	0	1	0	0	0	11438	449	16	5	811	5	PABPC5	23	90691385	Missense_Mutation	SNP	A	TCGA-UF-A71B-01A-12D-A34J-08	11410150	90691385	64579175	176	95463											
GPC3	2719	broad.mit.edu	37	chrX	133087078	133087078	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataatccccagaactcaccTtggaaaaccgcagcattctg	14	8	6	13	1	2	1	1	0	1	1	3	2	3	2	4	1	3	2	4	1	5	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:133087078T>C	ENST00000370818.3	-	2	781	c.337_splice	c.e2+1	p.Q112_splice	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Splice_Site_p.Q112_splice	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	112						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGAACTCACCTTGGAAAACCG	0.378			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				84	148					0	0	0	0	C	133087078	T	C	133087078	5	2	493	1	0	0	0	0	0	0	1	0	6648	1623	56	5	1507	5	GPC3	23	133087078	Splice_Site	SNP	T	TCGA-UF-A71B-01A-12D-A34J-08	42395693	133087078	22183482	177	95464											
ARHGAP4	393	broad.mit.edu	37	chrX	153184627	153184627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtccatgaggtccaagacGtcatgcaggtagtagttact	11	10	11	9	2	1	2	1	1	0	1	3	2	3	2	2	2	2	4	2	2	4	3			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:153184627G>A	ENST00000370028.3	-	7	969	c.912C>T	c.(910-912)gaC>gaT	p.D304D	ARHGAP4_ENST00000370016.1_Silent_p.D243D|ARHGAP4_ENST00000350060.5_Silent_p.D264D|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Silent_p.D241D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	264					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					GGTCCAAGACGTCATGCAGGT	0.567													52	79					0	0	0	0	A	153184627	G	A	153184627	2	1	493	1	0	0	0	0	0	0	0	1	887	1136	40	1		1	ARHGAP4	23	153184627	Silent	SNP	G	TCGA-UF-A71B-01A-12D-A34J-08	20097549	153184627	2085933	178	95465											
MMEL1	79258	broad.mit.edu	37	chr1	2522995	2522995	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtgagcatgggagacttgCctgtacttcaggggactgtg	7	12	15	7	0	1	2	1	1	0	1	1	4	1	3	1	3	3	2	1	3	1	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:2522995C>T	ENST00000288709.6	-	23	2454		c.e23+1		MMEL1_ENST00000502556.1_Splice_Site|MMEL1_ENST00000378412.3_Splice_Site	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1						proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGGAGACTTGCCTGTACTTCA	0.592													12	114					0	0	0	0	T	2522995	C	T	2522995	5	4	494	1	0	0	0	0	0	0	1	0	9715	753	26	4	106	4	MMEL1	1	2522995	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		2522995	246727626	1	95466											
NPHP4	261734	broad.mit.edu	37	chr1	5965750	5965750	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtgaacggcagctcctGtaactgttcggcaatggatg	9	9	14	9	3	0	1	0	1	0	0	2	2	1	2	1	4	3	5	1	4	3	2	rs113413307	by1000genomes	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:5965750G>A	ENST00000378156.4	-	14	1970	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	569					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCTCCTGTAACTGTTCG	0.592													4	23					0	0	0	0	A	5965750	G	A	5965750	4	1	494	1	0	0	0	0	0	1	0	0	10651	1386	48	4	2643	4	NPHP4	1	5965750	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3442755	5965750	243284871	2	95467											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887400	12887400	+	Frame_Shift_Del	DEL	G	G	-																															caggatgcttctgatattgcGgaagggcattcccaaaattt																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:12887400delG	ENST00000535591.1	-	3	652	c.457delC	c.(457-459)gcfs	p.R153fs		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGATATTGCGGAAGGGCATT	0.468													143	320	---	---	---	---					-	12887400	G	-	12887400	7	5	494	1	0	1	0	1	0	0	0	0	12503	1116	39	0	861	0	PRAMEF11	1	12887400	Frame_Shift_Del	DEL	G	TCGA-UF-A71D-01A-12D-A34J-08	6921650	12887400	236363221	3	95468											
USP48	84196	broad.mit.edu	37	chr1	22084256	22084256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caataccaaccaagcaattcGgatttcctttgcagtttcgt	11	13	6	11	2	0	0	0	0	0	0	3	1	1	1	3	1	4	3	3	1	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:22084256G>A	ENST00000308271.9	-	2	803	c.155C>T	c.(154-156)cCg>cTg	p.P52L	USP48_ENST00000421625.2_Missense_Mutation_p.P52L|USP48_ENST00000400301.1_Missense_Mutation_p.P52L|USP48_ENST00000529637.1_Missense_Mutation_p.P52L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	52					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CAAGCAATTCGGATTTCCTTT	0.323													19	54					0	0	0	0	A	22084256	G	A	22084256	3	1	494	1	0	0	0	0	1	0	0	0	17175	1116	39	1	3064	1	USP48	1	22084256	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	9196856	22084256	227166365	4	95469											
ATPIF1	93974	broad.mit.edu	37	chr1	28564448	28564448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcagaaagaaattgagCgccataagcagaagatcaaa	18	6	10	7	1	2	5	1	1	1	4	2	5	2	5	1	0	3	2	1	0	5	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:28564448C>T	ENST00000335514.5	+	3	331	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	94					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAATTGAGCGCCATAAGCA	0.418													4	120					0	0	0	0	T	28564448	C	T	28564448	3	4	494	1	0	0	0	0	1	0	0	0	1207	768	27	1	335	1	ATPIF1	1	28564448	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6480192	28564448	220686173	5	95470											
OPRD1	4985	broad.mit.edu	37	chr1	29189480	29189480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgctggtggttgtgggCgccttcgtggtgtgttgggc	1	14	20	6	2	0	0	0	0	0	0	1	0	0	0	1	6	1	3	1	6	0	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:29189480C>T	ENST00000234961.2	+	3	1046	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	268					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	p.G268G(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TGGTTGTGGGCGCCTTCGTGG	0.677													5	33					0	0	0	0	T	29189480	C	T	29189480	2	4	494	1	0	0	0	0	0	0	0	1	10955	755	27	1		1	OPRD1	1	29189480	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	625032	29189480	220061141	6	95471											
TMEM200B	399474	broad.mit.edu	37	chr1	29447725	29447725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagcgggctctgaacgcaGactccgcactgacgggacgg	9	6	14	12	5	1	3	0	2	1	1	2	4	2	4	1	3	2	3	1	3	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:29447725G>C	ENST00000420504.2	-	2	773	c.616C>G	c.(616-618)Ctg>Gtg	p.L206V	TMEM200B_ENST00000521452.1_Missense_Mutation_p.L206V	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	206	Pro-rich.					integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TCTGAACGCAGACTCCGCACT	0.687													7	43					0	0	0	0	C	29447725	G	C	29447725	3	2	494	1	0	0	0	0	1	0	0	0	16218	933	33	2	311	2	TMEM200B	1	29447725	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	258245	29447725	219802896	7	95472											
COL16A1	1307	broad.mit.edu	37	chr1	32119209	32119209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttcctacctggggggcCgggaagaccattttctcctg	6	12	12	11	1	1	1	0	0	1	1	3	2	2	2	5	4	1	1	5	4	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:32119209C>A	ENST00000373672.3	-	70	5119	c.4603G>T	c.(4603-4605)Ggc>Tgc	p.G1535C	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1535C|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1535	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTGGGGGGCCGGGAAGACCA	0.458													21	37					1.66031e-10	1.85599e-10	1	0	A	32119209	C	A	32119209	3	1	494	1	0	0	0	0	1	0	0	0	3703	652	23	3	219	3	COL16A1	1	32119209	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2671484	32119209	217131412	8	95473											
COL8A2	1296	broad.mit.edu	37	chr1	36564294	36564294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagagtcctgggaccccagCtgggcccctgtcccccttgg	5	7	12	17	0	0	1	0	0	0	1	2	2	2	2	7	3	1	1	7	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:36564294C>G	ENST00000397799.1	-	4	1212	c.988G>C	c.(988-990)Gct>Cct	p.A330P	COL8A2_ENST00000481785.1_Missense_Mutation_p.A265P|COL8A2_ENST00000303143.4_Missense_Mutation_p.A330P			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	330	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACCCCAGCTGGGCCCCTG	0.721													7	14					0	0	0	0	G	36564294	C	G	36564294	3	3	494	1	0	0	0	0	1	0	0	0	3736	797	28	4	1127	4	COL8A2	1	36564294	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4445085	36564294	212686327	9	95474											
BEND5	79656	broad.mit.edu	37	chr1	49208439	49208439	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttttccagatcaatggcGggacctaggcagttaagaaa	13	10	10	8	1	1	2	1	0	0	2	2	3	2	3	2	3	0	2	2	3	4	4	rs148772068	by1000genomes	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:49208439G>A	ENST00000371833.3	-	4	836	c.750C>T	c.(748-750)ccC>ccT	p.P250P	BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	250										large_intestine(5)|lung(2)|skin(1)	8						GATCAATGGCGGGACCTAGGC	0.438													21	59					0	0	0	0	A	49208439	G	A	49208439	2	1	494	1	0	0	0	0	0	0	0	1	1405	1103	39	1		1	BEND5	1	49208439	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	12644145	49208439	200042182	10	95475											
ZCCHC11	23318	broad.mit.edu	37	chr1	52941095	52941095	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacttatttccacccttCgtctgaggacaggcaaaata	12	11	8	10	1	1	2	0	1	1	1	3	3	2	3	2	2	0	2	2	2	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:52941095C>A	ENST00000371544.3	-	13	2398	c.2136G>T	c.(2134-2136)acG>acT	p.T712T	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.T712T	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	712					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTCCACCCTTCGTCTGAGGAC	0.423													33	94					3.80469e-20	4.675e-20	1	0	A	52941095	C	A	52941095	2	1	494	1	0	0	0	0	0	0	0	1	17675	871	31	3		3	ZCCHC11	1	52941095	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3732656	52941095	196309526	11	95476											
C8B	732	broad.mit.edu	37	chr1	57406547	57406547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgatgatggctgggttgTactgcacagcgtctccccac	6	12	11	12	1	1	2	0	2	1	0	2	2	1	2	2	2	3	4	2	2	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:57406547T>C	ENST00000543257.1	-	10	1783	c.1217A>G	c.(1216-1218)tAc>tGc	p.Y406C	C8B_ENST00000371237.4_Missense_Mutation_p.Y458C|C8B_ENST00000535057.1_Missense_Mutation_p.Y396C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	458	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGCTGGGTTGTACTGCACAGC	0.562													16	59					0	0	0	0	C	57406547	T	C	57406547	3	2	494	1	0	0	0	0	1	0	0	0	2440	1638	57	5	418	5	C8B	1	57406547	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	4465452	57406547	191844074	12	95477											
PDE4B	5142	broad.mit.edu	37	chr1	66834519	66834519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgagcaaccccaccaagtCcttggaattgtatcggcaat	11	9	8	13	1	0	1	0	1	0	0	2	2	1	2	5	2	2	3	5	2	5	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:66834519C>T	ENST00000423207.2	+	14	2152	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	PDE4B_ENST00000329654.4_Missense_Mutation_p.S571F|PDE4B_ENST00000480109.2_Missense_Mutation_p.S338F|PDE4B_ENST00000371045.5_Missense_Mutation_p.S399F|PDE4B_ENST00000371049.3_Missense_Mutation_p.S571F	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	571					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCCACCAAGTCCTTGGAATTG	0.463													24	100					0	0	0	0	T	66834519	C	T	66834519	3	4	494	1	0	0	0	0	1	0	0	0	11711	855	30	2	2128	2	PDE4B	1	66834519	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9427972	66834519	182416102	13	95478											
TNNI3K	51086	broad.mit.edu	37	chr1	74957916	74957916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgaattggaatatgctCtaaatgcaaggtcctatgct	11	14	9	7	1	1	0	0	0	1	0	3	2	2	1	1	2	3	4	1	2	7	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:74957916C>A	ENST00000370891.2	+	25	2636	c.2620C>A	c.(2620-2622)Cta>Ata	p.L874I	LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L773I|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L874I	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GGAATATGCTCTAAATGCAAG	0.438													48	123					1.02687e-29	1.315e-29	1	0	A	74957916	C	A	74957916	3	1	494	1	0	0	0	0	1	0	0	0	16423	912	32	2	2762	2	TNNI3K	1	74957916	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	8123397	74957916	174292705	14	95479											
USP33	23032	broad.mit.edu	37	chr1	78177463	78177463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccaattcagtttttcttCttttttcaattttctccgcc	5	23	2	11	1	5	0	2	0	3	0	7	0	6	0	3	0	0	1	3	0	2	10	rs1058816		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:78177463C>T	ENST00000370793.1	-	22	2814	c.2468G>A	c.(2467-2469)aGa>aAa	p.R823K	USP33_ENST00000357428.1_Missense_Mutation_p.R823K|USP33_ENST00000370792.3_Missense_Mutation_p.R815K|USP33_ENST00000370794.3_Missense_Mutation_p.R792K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	823	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGTTTTTCTTCTTTTTTCAAT	0.328													43	100					0	0	0	0	T	78177463	C	T	78177463	3	4	494	1	0	0	0	0	1	0	0	0	17160	913	32	2	388	2	USP33	1	78177463	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3219547	78177463	171073158	15	95480											
IFI44	10561	broad.mit.edu	37	chr1	79128500	79128500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatgttctaattctttctGctctgagacgaatgctatgg	9	15	10	7	1	4	1	0	1	4	1	4	4	4	2	0	2	2	3	0	2	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:79128500G>C	ENST00000370747.4	+	8	1310	c.1225G>C	c.(1225-1227)Gct>Cct	p.A409P	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	409					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATTCTTTCTGCTCTGAGACG	0.453													39	147					0	0	0	0	C	79128500	G	C	79128500	3	2	494	1	0	0	0	0	1	0	0	0	7570	1319	46	4	1251	4	IFI44	1	79128500	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	951037	79128500	170122121	16	95481											
TMED5	50999	broad.mit.edu	37	chr1	93621932	93621932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcttcttgttcttgtgcCtgttctcccatattatccag	6	18	5	12	0	4	0	0	0	4	0	6	0	5	0	3	0	1	2	3	0	3	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:93621932C>G	ENST00000370282.3	-	3	881	c.396G>C	c.(394-396)caG>caC	p.Q132H	TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000479918.1_Missense_Mutation_p.Q132H|TMED5_ENST00000370280.1_Missense_Mutation_p.Q132H	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	132					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		GTTCTTGTGCCTGTTCTCCCA	0.353													13	59					0	0	0	0	G	93621932	C	G	93621932	3	3	494	1	0	0	0	0	1	0	0	0	16101	680	24	4	354	4	TMED5	1	93621932	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	14493432	93621932	155628689	17	95482											
SLC44A3	126969	broad.mit.edu	37	chr1	95293066	95293066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatctatttcctagacaCgtgttctttatgaattcctg	8	19	5	9	1	3	2	1	1	2	1	5	2	5	2	2	0	0	1	2	0	4	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:95293066C>T	ENST00000271227.6	+	4	384	c.282C>T	c.(280-282)caC>caT	p.H94H	SLC44A3_ENST00000467909.1_Silent_p.H46H|SLC44A3_ENST00000527077.1_Silent_p.H58H|SLC44A3_ENST00000446120.2_Silent_p.H58H|SLC44A3_ENST00000529450.1_Silent_p.H94H|SLC44A3_ENST00000532427.1_Silent_p.H46H|SLC44A3_ENST00000530397.1_3'UTR	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	94						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTCCTAGACACGTGTTCTTTA	0.448													10	81					0	0	0	0	T	95293066	C	T	95293066	2	4	494	1	0	0	0	0	0	0	0	1	14725	535	19	1		1	SLC44A3	1	95293066	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1671134	95293066	153957555	18	95483											
VCAM1	7412	broad.mit.edu	37	chr1	101198034	101198034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcctggaggaaggcagttCtgtgaatatgacatgcttga	11	11	12	7	0	1	3	0	3	1	0	2	5	2	5	1	3	1	3	1	3	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:101198034C>T	ENST00000294728.2	+	7	1687	c.1586C>T	c.(1585-1587)tCt>tTt	p.S529F	VCAM1_ENST00000370115.1_Missense_Mutation_p.S330F|VCAM1_ENST00000347652.2_Missense_Mutation_p.S437F|VCAM1_ENST00000370119.4_Missense_Mutation_p.S467F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	529	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			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)	GAAGGCAGTTCTGTGAATATG	0.527													15	89					0	0	0	0	T	101198034	C	T	101198034	3	4	494	1	0	0	0	0	1	0	0	0	17233	913	32	2	1612	2	VCAM1	1	101198034	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5904968	101198034	148052587	19	95484											
COL11A1	1301	broad.mit.edu	37	chr1	103364261	103364261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaccttctggaccaggCtttcctgcaggtccctgagg	7	9	12	13	1	1	2	0	1	1	1	3	4	3	3	4	4	1	2	4	4	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103364261C>T	ENST00000358392.2	-	56	4562	c.4245G>A	c.(4243-4245)aaG>aaA	p.K1415K	COL11A1_ENST00000512756.1_Silent_p.K1287K|COL11A1_ENST00000353414.4_Silent_p.K1364K|COL11A1_ENST00000370096.3_Silent_p.K1403K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1403	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGACCAGGCTTTCCTGCAG	0.458													11	35					0	0	0	0	T	103364261	C	T	103364261	2	4	494	1	0	0	0	0	0	0	0	1	3697	796	28	4		4	COL11A1	1	103364261	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2166227	103364261	145886360	20	95485											
COL11A1	1301	broad.mit.edu	37	chr1	103471837	103471837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctttttccaggttttcccGttggaccagggggaccctgg	4	12	12	13	1	0	0	0	0	0	0	2	2	2	2	5	5	0	2	5	5	0	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103471837G>T	ENST00000358392.2	-	16	2071	c.1754C>A	c.(1753-1755)aCg>aAg	p.T585K	COL11A1_ENST00000512756.1_Missense_Mutation_p.T457K|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.T534K|COL11A1_ENST00000370096.3_Missense_Mutation_p.T573K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	573	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTTTTCCCGTTGGACCAGG	0.348													6	62					0.0215528	0.0218771	1	0	T	103471837	G	T	103471837	3	4	494	1	0	0	0	0	1	0	0	0	3697	1145	40	3	3910	3	COL11A1	1	103471837	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	107576	103471837	145778784	21	95486											
COL11A1	1301	broad.mit.edu	37	chr1	103548523	103548523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttttagtacatcaactgGagcagctgaaaaataagcaa	16	10	8	7	0	1	1	1	1	0	0	1	2	1	2	0	1	6	5	0	1	7	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103548523G>T	ENST00000358392.2	-	2	429	c.112C>A	c.(112-114)Cca>Aca	p.P38T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P38T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P38T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P38T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	38	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATCAACTGGAGCAGCTGAA	0.333													11	71					3.86212e-05	4.04191e-05	1	0	T	103548523	G	T	103548523	3	4	494	1	0	0	0	0	1	0	0	0	3697	1174	41	2	5729	2	COL11A1	1	103548523	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	76686	103548523	145702098	22	95487											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767779	143767779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatcttgtctgcaaactGtttgatggagatgcggccca	9	12	12	8	1	2	2	0	1	2	1	2	4	2	3	1	3	3	2	1	3	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:143767779G>C	ENST00000419275.1	-	1	102	c.70C>G	c.(70-72)Cag>Gag	p.Q24E		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	24	PPIase cyclophilin-type.			Q -> L (in Ref. 2; AAI30379/AAI30377).	protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TCTGCAAACTGTTTGATGGAG	0.483													51	553					0	0	0	0	C	143767779	G	C	143767779	3	2	494	1	0	0	0	0	1	0	0	0	12394	1386	48	4	428	4	PPIAL4G	1	143767779	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	40219256	143767779	105482842	23	95488											
APH1A	51107	broad.mit.edu	37	chr1	150238998	150238998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaggcccagagccccatgGaaacagtgactgcatagatg	13	6	12	10	0	0	4	0	2	0	2	0	5	0	5	3	2	3	1	3	2	3	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:150238998G>A	ENST00000360244.4	-	6	1160	c.668C>T	c.(667-669)tCc>tTc	p.S223F	APH1A_ENST00000369109.3_Missense_Mutation_p.S223F|APH1A_ENST00000414276.2_Missense_Mutation_p.S153F|APH1A_ENST00000461320.1_5'UTR	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	223					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCCCATGGAAACAGTGAC	0.542													4	42					0	0	0	0	A	150238998	G	A	150238998	3	1	494	1	0	0	0	0	1	0	0	0	772	1174	41	2	148	2	APH1A	1	150238998	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6471219	150238998	99011623	24	95489											
HORMAD1	84072	broad.mit.edu	37	chr1	150679212	150679212	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcccacatttaaatacatAggttccccttcaaatataac	14	13	2	12	0	2	0	1	0	1	0	4	0	3	0	3	1	2	1	3	1	7	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:150679212A>T	ENST00000368993.2	-	10	726	c.621T>A	c.(619-621)ccT>ccA	p.P207P	HORMAD1_ENST00000368995.4_Silent_p.P127P|HORMAD1_ENST00000361824.2_Silent_p.P207P|HORMAD1_ENST00000322343.7_Silent_p.P200P			Q86X24	HORM1_HUMAN	HORMA domain containing 1	207	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTAAATACATAGGTTCCCCTT	0.393													96	91					0	0	0	0	T	150679212	A	T	150679212	2	4	494	1	0	0	0	0	0	0	0	1	7336	407	15	5		5	HORMAD1	1	150679212	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	440214	150679212	98571409	25	95490											
PSMD4	5710	broad.mit.edu	37	chr1	151237331	151237331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaagcaccgacaaggCaagaatcacaagatgcgcat	15	5	10	11	2	2	3	1	1	1	2	2	4	2	3	1	1	2	4	1	1	5	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:151237331C>T	ENST00000368884.3	+	4	386	c.306C>T	c.(304-306)ggC>ggT	p.G102G	PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Silent_p.G102G	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	102	VWFA.				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|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	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)			ACCGACAAGGCAAGAATCACA	0.522													6	34					0	0	0	0	T	151237331	C	T	151237331	2	4	494	1	0	0	0	0	0	0	0	1	12779	697	25	4		4	PSMD4	1	151237331	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	558119	151237331	98013290	26	95491											
KPRP	448834	broad.mit.edu	37	chr1	152732150	152732150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgctcctctcaatcccCctttgcccagagccaagtgg	6	11	7	17	0	2	1	1	0	2	1	5	1	4	1	5	1	3	1	5	1	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:152732150C>T	ENST00000368773.1	+	2	144	c.86C>T	c.(85-87)cCc>cTc	p.P29L	KPRP_ENST00000606109.1_Missense_Mutation_p.P29L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	29	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCAATCCCCCTTTGCCCAG	0.582													20	146					0	0	0	0	T	152732150	C	T	152732150	3	4	494	1	0	0	0	0	1	0	0	0	8488	623	22	4	88	4	KPRP	1	152732150	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1494819	152732150	96518471	27	95492											
CLK2	1196	broad.mit.edu	37	chr1	155240681	155240681	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaggagcgacttcttcGtcgcttatgctttcggctcc	5	13	10	13	4	1	1	0	1	1	0	5	3	2	2	2	2	2	3	2	2	1	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:155240681G>A	ENST00000368361.4	-	2	403	c.88C>T	c.(88-90)Cga>Tga	p.R30*	CLK2_ENST00000355560.4_Nonsense_Mutation_p.R30*|CLK2_ENST00000536801.1_Nonsense_Mutation_p.R30*|CLK2_ENST00000361168.5_Nonsense_Mutation_p.R30*			P49760	CLK2_HUMAN	CDC-like kinase 2	30						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGACTTCTTCGTCGCTTATGC	0.592								Other conserved DNA damage response genes					8	113					0	0	0	0	A	155240681	G	A	155240681	4	1	494	1	0	0	0	0	0	1	0	0	3567	1153	40	1	1456	1	CLK2	1	155240681	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2508531	155240681	94009940	28	95493											
SEMA4A	64218	broad.mit.edu	37	chr1	156132738	156132738	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggctgtctccaggcaGgttggcgggaccaggagctc	5	8	15	13	1	2	0	0	0	2	0	4	2	2	2	3	6	1	4	3	6	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:156132738G>A	ENST00000368285.3	+	10	1254	c.987G>A	c.(985-987)caG>caA	p.Q329Q	SEMA4A_ENST00000368282.1_Silent_p.Q329Q|SEMA4A_ENST00000368284.1_Silent_p.Q197Q|SEMA4A_ENST00000368286.2_Silent_p.Q197Q|SEMA4A_ENST00000355014.2_Silent_p.Q329Q|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	329	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTCCAGGCAGGTTGGCGGGA	0.532													21	99					0	0	0	0	A	156132738	G	A	156132738	2	1	494	1	0	0	0	0	0	0	0	1	14118	991	35	4		4	SEMA4A	1	156132738	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	892057	156132738	93117883	29	95494											
OR6K6	128371	broad.mit.edu	37	chr1	158724915	158724915	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagatctgctataccacaAccaccatccccaagatgctg	12	8	7	14	0	1	2	0	0	1	2	2	3	2	2	5	1	4	2	5	1	4	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:158724915A>C	ENST00000368144.2	+	1	406	c.310A>C	c.(310-312)Acc>Ccc	p.T104P		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTATACCACAACCACCATCCC	0.493													24	139					0	0	0	0	C	158724915	A	C	158724915	3	2	494	1	0	0	0	0	1	0	0	0	11275	43	2	5	312	5	OR6K6	1	158724915	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	2592177	158724915	90525706	30	95495											
PYHIN1	149628	broad.mit.edu	37	chr1	158911997	158911997	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaaaagagaatcatcatTatatcaaattattccaaacg	20	12	3	6	1	3	1	3	0	0	1	4	2	4	1	1	0	1	0	1	0	9	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:158911997T>C	ENST00000368140.1	+	5	1055	c.810T>C	c.(808-810)atT>atC	p.I270I	PYHIN1_ENST00000392254.2_Silent_p.I270I|PYHIN1_ENST00000392252.3_Silent_p.I261I|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.I261I	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	270	HIN-200.				cell cycle	nuclear speck				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)					GAATCATCATTATATCAAATT	0.378													30	103					0	0	0	0	C	158911997	T	C	158911997	2	2	494	1	0	0	0	0	0	0	0	1	12947	1742	61	5		5	PYHIN1	1	158911997	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	187082	158911997	90338624	31	95496											
ATP1A2	477	broad.mit.edu	37	chr1	160097546	160097546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctacagctggctggaggCagtcatcttcctcatcggca	7	9	13	12	1	3	0	2	0	1	0	5	1	4	1	1	5	2	5	1	5	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:160097546C>T	ENST00000361216.3	+	8	1042	c.953C>T	c.(952-954)gCa>gTa	p.A318V	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A318V|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	318					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGCTGGAGGCAGTCATCTTC	0.592													82	111					0	0	0	0	T	160097546	C	T	160097546	3	4	494	1	0	0	0	0	1	0	0	0	1133	710	25	4	983	4	ATP1A2	1	160097546	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1185549	160097546	89153075	32	95497											
CD244	51744	broad.mit.edu	37	chr1	160811221	160811221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagagccacttggcatCtccctctgtccaggatcttc	9	10	8	14	0	3	2	0	0	3	2	6	3	4	3	3	2	1	1	3	2	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:160811221C>A	ENST00000368034.4	-	3	611	c.434G>T	c.(433-435)aGa>aTa	p.R145I	CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Missense_Mutation_p.R145I|CD244_ENST00000368033.3_Missense_Mutation_p.R150I	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	150	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACTTGGCATCTCCCTCTGTC	0.522													40	133					4.14481e-20	5.08262e-20	1	0	A	160811221	C	A	160811221	3	1	494	1	0	0	0	0	1	0	0	0	3016	913	32	2	691	2	CD244	1	160811221	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	713675	160811221	88439400	33	95498											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166601	161166601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgctttagccccgcacCgtggaatgcggccatcttgt	6	10	12	13	4	1	0	0	0	1	0	1	1	1	1	4	2	3	3	4	2	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:161166601C>T	ENST00000367996.4	-	2	1131	c.703G>A	c.(703-705)Ggt>Agt	p.G235S	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G235S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	235	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCCGCACCGTGGAATGCG	0.547													5	404					0	0	0	0	T	161166601	C	T	161166601	3	4	494	1	0	0	0	0	1	0	0	0	268	652	23	1	1842	1	ADAMTS4	1	161166601	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	355380	161166601	88084020	34	95499											
FCGR3A	2214	broad.mit.edu	37	chr1	161512826	161512826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgtcttgagggtcctttctCcatttaaatttatggtcctt	6	20	7	8	0	2	1	0	1	2	0	5	1	4	1	3	2	0	0	3	2	3	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:161512826C>G	ENST00000367969.3	-	5	1032	c.849G>C	c.(847-849)tgG>tgC	p.W283C	FCGR3A_ENST00000436743.1_Missense_Mutation_p.W247C|FCGR3A_ENST00000540048.1_Missense_Mutation_p.W247C|FCGR3A_ENST00000443193.1_Missense_Mutation_p.W282C	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	247					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGTCCTTTCTCCATTTAAATT	0.438													18	292					0	0	0	0	G	161512826	C	G	161512826	3	3	494	1	0	0	0	0	1	0	0	0	5829	856	30	2	27	2	FCGR3A	1	161512826	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	346225	161512826	87737795	35	95500											
FMO3	2328	broad.mit.edu	37	chr1	171086520	171086520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccttgcttctttttcCattggctgaagctctttgca	7	16	8	10	0	2	2	0	1	2	1	3	2	3	2	2	1	4	4	2	1	2	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:171086520C>A	ENST00000367755.4	+	9	1648	c.1537C>A	c.(1537-1539)Cat>Aat	p.H513N	FMO3_ENST00000542847.1_Missense_Mutation_p.H493N|FMO3_ENST00000392085.2_Missense_Mutation_p.H513N|FMO3_ENST00000538429.1_Missense_Mutation_p.H450N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	513					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCTTTTTCCATTGGCTGAA	0.458													16	110					1.99824e-07	2.16208e-07	1	0	A	171086520	C	A	171086520	3	1	494	1	0	0	0	0	1	0	0	0	6001	594	21	4	1567	4	FMO3	1	171086520	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9573694	171086520	78164101	36	95501											
RABGAP1L	9910	broad.mit.edu	37	chr1	174210701	174210701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgcacgtggacatgacgGaacaacagagagcaattgct	13	7	12	9	2	0	2	0	1	0	1	0	5	0	4	0	2	5	3	0	2	3	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:174210701G>T	ENST00000251507.4	+	5	797	c.623G>T	c.(622-624)gGa>gTa	p.G208V	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.G171V	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	208	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGACATGACGGAACAACAGAG	0.383													42	112					8.20599e-20	1.00424e-19	1	0	T	174210701	G	T	174210701	3	4	494	1	0	0	0	0	1	0	0	0	13047	1174	41	2	637	2	RABGAP1L	1	174210701	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3124181	174210701	75039920	37	95502											
TNN	63923	broad.mit.edu	37	chr1	175066728	175066728	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagcactgtcctgacAggcctgaggccaggtgtgga	9	6	15	11	0	0	3	0	2	0	1	1	4	1	4	3	4	2	2	3	4	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:175066728A>G	ENST00000239462.4	+	8	1877	c.1764A>G	c.(1762-1764)acA>acG	p.T588T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	588	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCCTGACAGGCCTGAGGC	0.587													23	84					0	0	0	0	G	175066728	A	G	175066728	2	3	494	1	0	0	0	0	0	0	0	1	16417	175	7	5		5	TNN	1	175066728	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	856027	175066728	74183893	38	95503											
PAPPA2	60676	broad.mit.edu	37	chr1	176661369	176661369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaaagcccacccccatcCccattccacctatggtcatc	10	7	5	19	0	1	1	1	0	0	1	4	1	3	1	7	1	1	1	7	1	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:176661369C>T	ENST00000367662.3	+	6	3703	c.2539C>T	c.(2539-2541)Ccc>Tcc	p.P847S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	847					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCATCCCCATTCCACC	0.512													43	243					0	0	0	0	T	176661369	C	T	176661369	3	4	494	1	0	0	0	0	1	0	0	0	11504	623	22	4	2610	4	PAPPA2	1	176661369	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1594641	176661369	72589252	39	95504											
ABL2	27	broad.mit.edu	37	chr1	179089369	179089369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgatttccttcattactGcagcttctttcaggaattct	7	18	6	10	0	4	1	2	1	2	0	5	2	5	2	1	1	3	3	1	1	2	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:179089369G>T	ENST00000502732.1	-	6	1204	c.1001C>A	c.(1000-1002)gCa>gAa	p.A334E	ABL2_ENST00000344730.3_Missense_Mutation_p.A319E|ABL2_ENST00000392043.3_Missense_Mutation_p.A313E|ABL2_ENST00000512653.1_Missense_Mutation_p.A319E|ABL2_ENST00000511413.1_Missense_Mutation_p.A334E|ABL2_ENST00000367623.4_Missense_Mutation_p.A313E|ABL2_ENST00000408940.3_Missense_Mutation_p.A298E|ABL2_ENST00000504405.1_Missense_Mutation_p.A298E|ABL2_ENST00000507173.1_Missense_Mutation_p.A313E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	334	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTCATTACTGCAGCTTCTTT	0.403			T	ETV6	AML								35	192					1.69901e-12	1.93853e-12	1	0	T	179089369	G	T	179089369	3	4	494	1	0	0	0	0	1	0	0	0	93	1319	46	4	2620	4	ABL2	1	179089369	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2428000	179089369	70161252	40	95505											
CACNA1E	777	broad.mit.edu	37	chr1	181731778	181731778	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagtatcacagaaattatCctgacagacagcaaggtgaa	16	7	10	8	0	1	4	1	2	0	2	2	4	2	4	1	2	1	3	1	2	5	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:181731778C>A	ENST00000526775.1	+	32	4782	c.4617C>A	c.(4615-4617)atC>atA	p.I1539I	CACNA1E_ENST00000367567.4_Silent_p.I1165I|CACNA1E_ENST00000357570.5_Silent_p.I1509I|CACNA1E_ENST00000367570.1_Silent_p.I1558I|CACNA1E_ENST00000367573.2_Silent_p.I1558I|CACNA1E_ENST00000358338.5_Silent_p.I1490I|CACNA1E_ENST00000360108.3_Silent_p.I1539I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1558					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGAAATTATCCTGACAGACA	0.398													30	27					1.06801e-11	1.20499e-11	1	0	A	181731778	C	A	181731778	2	1	494	1	0	0	0	0	0	0	0	1	2567	845	30	2		2	CACNA1E	1	181731778	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2642409	181731778	67518843	41	95506											
KCNT2	343450	broad.mit.edu	37	chr1	196461471	196461471	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatagaattcaacttgtacCctgcaaacagaaaataaaaa	21	9	4	7	0	1	2	1	0	0	2	1	2	1	2	1	0	4	2	1	0	11	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:196461471C>T	ENST00000367433.5	-	2	197	c.95_splice	c.e2-1	p.R32_splice	KCNT2_ENST00000294725.8_Splice_Site_p.R32_splice|KCNT2_ENST00000367431.4_Splice_Site_p.R32_splice|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	32						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAACTTGTACCCTGCAAACAG	0.254													3	31					0	0	0	0	T	196461471	C	T	196461471	5	4	494	1	0	0	0	0	0	0	1	0	8145	637	22	4	3419	4	KCNT2	1	196461471	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	14729693	196461471	52789150	42	95507											
ATP6V1G3	127124	broad.mit.edu	37	chr1	198492686	198492686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagattattctgagaGcccattatctaccaaaacaa	15	11	6	9	0	3	3	0	2	3	2	3	5	3	3	2	0	3	0	2	0	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:198492686G>A	ENST00000367381.1	-	5	315	c.210C>T	c.(208-210)ggC>ggT	p.G70G	ATP6V1G3_ENST00000489986.1_Silent_p.G70G|ATP6V1G3_ENST00000367382.1_Silent_p.G64G|ATP6V1G3_ENST00000281087.2_Silent_p.G64G|ATP6V1G3_ENST00000309309.7_3'UTR			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	64					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TATTCTGAGAGCCCATTATCT	0.333													14	91					0	0	0	0	A	198492686	G	A	198492686	2	1	494	1	0	0	0	0	0	0	0	1	1192	958	34	4		4	ATP6V1G3	1	198492686	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2031215	198492686	50757935	43	95508											
NAV1	89796	broad.mit.edu	37	chr1	201751633	201751634	+	Frame_Shift_Ins	INS	-	-	T																															attcctggctcctggagcccINSgttctaacatccagtaccgc																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:201751633_201751634insT	ENST00000367296.4	+	6	2413_2414	c.1993_1994insT	c.(1993-1995)ttcfs	p.F665fs	NAV1_ENST00000295624.6_Frame_Shift_Ins_p.F665fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.F678fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.F665fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.F274fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.F665fs|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	665					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCCTGGAGCCCGTTCTAACATC	0.594													37	163	---	---	---	---					T	201751634	-	T	201751633	7	5	494	1	0	1	1	0	0	0	0	0	10253	652	23	0	2072	0	NAV1	1	201751633	Frame_Shift_Ins	INS	-	TCGA-UF-A71D-01A-12D-A34J-08	3258947	201751633	47498988	44	95509											
PPFIA4	8497	broad.mit.edu	37	chr1	203020955	203020955	+	Frame_Shift_Del	DEL	C	C	-																															tgggcacaaccacacacgcaCccccaggcgtgcatcgccgc																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:203020955delC	ENST00000367240.2	+	13	2034	c.1507delC	c.(1507-1509)ccfs	p.P504fs	PPFIA4_ENST00000414050.2_Frame_Shift_Del_p.P232fs|PPFIA4_ENST00000272198.6_Frame_Shift_Del_p.P19fs|PPFIA4_ENST00000599966.1_Frame_Shift_Del_p.P19fs|PPFIA4_ENST00000447715.2_Frame_Shift_Del_p.P529fs|PPFIA4_ENST00000295706.4_Frame_Shift_Del_p.P19fs			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	19	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CACACACGCACCCCCAGGCGT	0.632													8	54	---	---	---	---					-	203020955	C	-	203020955	7	5	494	1	0	1	0	1	0	0	0	0	12383	507	18	0	54	0	PPFIA4	1	203020955	Frame_Shift_Del	DEL	C	TCGA-UF-A71D-01A-12D-A34J-08	1269322	203020955	46229666	45	95510											
ATF3	467	broad.mit.edu	37	chr1	212788549	212788549	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccggatgtcctctgcgctGgaatcagtcactgtcagcga	8	9	11	13	3	4	0	3	0	1	0	5	3	5	2	2	2	2	1	2	2	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:212788549G>T	ENST00000341491.4	+	2	451	c.186G>T	c.(184-186)ctG>ctT	p.L62L	ATF3_ENST00000336937.4_Silent_p.L33L|ATF3_ENST00000366983.1_Silent_p.L62L|ATF3_ENST00000366985.1_Silent_p.L5L|ATF3_ENST00000366987.2_Silent_p.L62L|ATF3_ENST00000492118.1_Intron	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	62						nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		CCTCTGCGCTGGAATCAGTCA	0.527													14	98					0.0285812	0.0289629	1	0	T	212788549	G	T	212788549	2	4	494	1	0	0	0	0	0	0	0	1	1085	1335	47	4		4	ATF3	1	212788549	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	9767594	212788549	36462072	46	95511											
USH2A	7399	broad.mit.edu	37	chr1	216420234	216420234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattattttgccgtaggtaGaagtttccctccaaacattt	11	15	7	8	1	0	1	0	0	0	1	2	2	2	1	3	1	2	3	3	1	6	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:216420234G>C	ENST00000366943.2	-	13	2888	c.2502C>G	c.(2500-2502)ttC>ttG	p.F834L	USH2A_ENST00000307340.3_Missense_Mutation_p.F834L|USH2A_ENST00000366942.3_Missense_Mutation_p.F834L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	834	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCGTAGGTAGAAGTTTCCCT	0.453										HNSCC(13;0.011)			12	199					0	0	0	0	C	216420234	G	C	216420234	3	2	494	1	0	0	0	0	1	0	0	0	17132	933	33	2	13360	2	USH2A	1	216420234	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3631685	216420234	32830387	47	95512											
GPATCH2	55105	broad.mit.edu	37	chr1	217793352	217793352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacaaccctcaggtggctgGgtcattgtccgtttgttaga	7	13	11	10	1	2	1	2	0	0	1	3	1	3	1	2	3	2	3	2	3	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:217793352G>A	ENST00000366935.3	-	2	656	c.546C>T	c.(544-546)acC>acT	p.T182T	GPATCH2_ENST00000366934.3_Silent_p.T182T	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	182						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CAGGTGGCTGGGTCATTGTCC	0.443													45	163					0	0	0	0	A	217793352	G	A	217793352	2	1	494	1	0	0	0	0	0	0	0	1	6640	1219	43	4		4	GPATCH2	1	217793352	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1373118	217793352	31457269	48	95513											
C1orf198	84886	broad.mit.edu	37	chr1	231004195	231004195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcgctcccggtcgtccaGaggccggttcccgctcatga	4	10	11	16	5	1	2	1	1	0	1	6	2	4	2	4	3	0	3	4	3	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:231004195G>C	ENST00000366663.5	-	1	204	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	22										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGTCGTCCAGAGGCCGGTTC	0.697													9	24					0	0	0	0	C	231004195	G	C	231004195	3	2	494	1	0	0	0	0	1	0	0	0	2045	933	33	2	935	2	C1orf198	1	231004195	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	13210843	231004195	18246426	49	95514											
HNRNPU	3192	broad.mit.edu	37	chr1	245021346	245021346	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcaggcccctttggTcctctaactcgatcctctaa	6	15	5	15	1	4	0	1	0	3	0	8	1	6	0	4	2	1	0	4	2	2	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:245021346T>C	ENST00000444376.2	-	7	1638	c.1404A>G	c.(1402-1404)ggA>ggG	p.G468G	HNRNPU_ENST00000283179.9_Silent_p.G487G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	487					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCCCCTTTGGTCCTCTAACTC	0.373													24	51					0	0	0	0	C	245021346	T	C	245021346	2	2	494	1	0	0	0	0	0	0	0	1	7323	1654	58	5		5	HNRNPU	1	245021346	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	14017151	245021346	4229275	50	95515											
OR11L1	391189	broad.mit.edu	37	chr1	248004501	248004501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaaaaggtctttctccggCcagaggtggaagggattctc	9	10	14	8	1	3	1	0	0	3	1	5	4	3	4	2	6	0	0	2	6	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:248004501C>A	ENST00000355784.2	-	1	753	c.698G>T	c.(697-699)gGc>gTc	p.G233V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTTCTCCGGCCAGAGGTGGA	0.502													19	78					5.35267e-07	5.7404e-07	1	0	A	248004501	C	A	248004501	3	1	494	1	0	0	0	0	1	0	0	0	11001	739	26	4	274	4	OR11L1	1	248004501	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2983155	248004501	1246120	51	95516											
OR2T33	391195	broad.mit.edu	37	chr1	248436832	248436832	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaagatctgcacaccAcagccagcgcgggagatggc	13	3	14	11	2	1	3	0	0	1	3	1	5	1	4	2	3	3	1	2	3	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:248436832A>C	ENST00000318021.2	-	1	306	c.285T>G	c.(283-285)tgT>tgG	p.C95W		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95C(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGCACACCACAGCCAGCGC	0.582													20	272					0	0	0	0	C	248436832	A	C	248436832	3	2	494	1	0	0	0	0	1	0	0	0	11095	157	6	5	680	5	OR2T33	1	248436832	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	432331	248436832	813789	52	95517											
HPCAL1	3241	broad.mit.edu	37	chr2	10559942	10559942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacctgcgggagaacaCggagttcaccgaccacgagc	11	3	14	13	4	1	1	1	0	0	1	1	6	1	3	3	3	3	2	3	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:10559942C>T	ENST00000381765.3	+	4	585	c.59C>T	c.(58-60)aCg>aTg	p.T20M	HPCAL1_ENST00000307845.3_Missense_Mutation_p.T20M	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	20							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CGGGAGAACACGGAGTTCACC	0.637													24	62					0	0	0	0	T	10559942	C	T	10559942	3	4	494	1	0	0	0	0	1	0	0	0	7380	536	19	1	61	1	HPCAL1	2	10559942	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		10559942	232639431	53	95518											
ROCK2	9475	broad.mit.edu	37	chr2	11338713	11338713	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaatcttgacagttcTgaaacatggaaaaaagttaa	16	13	6	6	0	4	2	1	2	3	0	4	3	4	3	0	1	1	2	0	1	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:11338713T>A	ENST00000315872.6	-	25	3453		c.e25-2		ROCK2_ENST00000401753.1_Splice_Site	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTGACAGTTCTGAAACATGGA	0.303													30	103					0	0	0	0	A	11338713	T	A	11338713	5	1	494	1	0	0	0	0	0	0	1	0	13603	1594	55	5	1199	5	ROCK2	2	11338713	Splice_Site	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	778771	11338713	231860660	54	95519											
NBAS	51594	broad.mit.edu	37	chr2	15694237	15694237	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaccaagcgaaccagtcCatcagggagcaaaaaaggtg	17	5	10	9	1	1	0	1	0	0	0	2	2	2	1	3	2	4	1	3	2	6	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:15694237C>A	ENST00000281513.5	-	4	260	c.235G>T	c.(235-237)Gga>Tga	p.G79*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.G79*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	79										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CGAACCAGTCCATCAGGGAGC	0.368													12	37					0.00136819	0.00140762	1	0	A	15694237	C	A	15694237	4	1	494	1	0	0	0	0	0	1	0	0	10256	603	21	4	7076	4	NBAS	2	15694237	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4355524	15694237	227505136	55	95520											
C2orf43	60526	broad.mit.edu	37	chr2	20901391	20901391	+	Frame_Shift_Del	DEL	C	C	-																															ccacctccatcatttcttggCccccaaggtaggcagcatta																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:20901391delC	ENST00000237822.3	-	6	804	c.725delG	c.(724-726)gcfs	p.G242fs	C2orf43_ENST00000435420.2_Frame_Shift_Del_p.G194fs|C2orf43_ENST00000403006.2_Frame_Shift_Del_p.G112fs|C2orf43_ENST00000381090.3_Frame_Shift_Del_p.G242fs|C2orf43_ENST00000440866.2_Frame_Shift_Del_p.A164fs|C2orf43_ENST00000541941.1_Frame_Shift_Del_p.G112fs	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	242										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTCTTGGCCCCCAAGGTA	0.323													88	178	---	---	---	---					-	20901391	C	-	20901391	7	5	494	1	0	1	0	1	0	0	0	0	2187	739	26	0	260	0	C2orf43	2	20901391	Frame_Shift_Del	DEL	C	TCGA-UF-A71D-01A-12D-A34J-08	5207154	20901391	222297982	56	95521											
TTC27	55622	broad.mit.edu	37	chr2	32855702	32855702	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accgctgaagaaaagattgaTagctacctggagaagcaggt	15	7	12	7	1	0	5	0	2	0	3	0	6	0	5	2	2	3	3	2	2	6	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:32855702T>C	ENST00000317907.4	+	2	432	c.201T>C	c.(199-201)gaT>gaC	p.D67D		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	67							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AAAAGATTGATAGCTACCTGG	0.348													28	67					0	0	0	0	C	32855702	T	C	32855702	2	2	494	1	0	0	0	0	0	0	0	1	16791	1403	49	5		5	TTC27	2	32855702	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	11954311	32855702	210343671	57	95522											
PLEKHH2	130271	broad.mit.edu	37	chr2	43927359	43927359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatgccaaagcatcctaActcactctctggaaaaggaa	15	10	6	10	0	2	0	1	0	1	0	4	2	3	2	2	2	3	1	2	2	6	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:43927359A>T	ENST00000282406.4	+	8	1372	c.1262A>T	c.(1261-1263)aAc>aTc	p.N421I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	421						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGCATCCTAACTCACTCTCT	0.428													61	120					0	0	0	0	T	43927359	A	T	43927359	3	4	494	1	0	0	0	0	1	0	0	0	12149	43	2	5	1288	5	PLEKHH2	2	43927359	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	11071657	43927359	199272014	58	95523											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48872217	48872217	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttcctggttatcccAttcatgtaccagcaggtgtg	7	16	8	10	0	1	0	1	0	0	0	3	0	3	0	3	2	3	3	3	2	3	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:48872217A>T	ENST00000394754.1	+	7	2575	c.2461A>T	c.(2461-2463)Att>Ttt	p.I821F	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.I83F|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I821F|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.I117F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I821F|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I821F|GTF2A1L_ENST00000468326.1_3'UTR	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		786					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGTTATCCCATTCATGTACC	0.333													22	61					0	0	0	0	T	48872217	A	T	48872217	3	4	494	1	0	0	0	0	1	0	0	0	15407	217	8	5	2483	5	STON1-GTF2A1L	2	48872217	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	4944858	48872217	194327156	59	95524											
NRXN1	9378	broad.mit.edu	37	chr2	50724790	50724790	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaagataccgtcgttCtgtgatgatgccagtctcta	12	11	10	8	2	2	5	0	2	2	3	4	5	2	5	2	0	2	1	2	0	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:50724790C>A	ENST00000404971.1	-	15	4019	c.2680G>T	c.(2680-2682)Gaa>Taa	p.E894*	NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E854*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E846*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.E854*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E846*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E854*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	854					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACCGTCGTTCTGTGATGATG	0.403													19	74					4.96729e-08	5.42292e-08	1	0	A	50724790	C	A	50724790	4	1	494	1	0	0	0	0	0	1	0	0	10736	922	32	2	2266	2	NRXN1	2	50724790	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1852573	50724790	192474583	60	95525											
PSME4	23198	broad.mit.edu	37	chr2	54163900	54163900	+	Splice_Site	DEL	C	C	-																															aagggaaaaagggatacttaCcccctcccattgtgggagat																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:54163900delC	ENST00000404125.1	-	6	815		c.e6+1		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGGATACTTACCCCCTCCCAT	0.343													68	138	---	---	---	---					-	54163900	C	-	54163900	8	5	494	1	0	1	0	1	0	0	1	0	12788	521	18	0	4935	0	PSME4	2	54163900	Splice_Site	DEL	C	TCGA-UF-A71D-01A-12D-A34J-08	3439110	54163900	189035473	61	95526											
CCDC85A	114800	broad.mit.edu	37	chr2	56420458	56420458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccctgatcacaaacacGgaggaggcagtggaggaagt	13	4	16	8	1	1	1	1	1	0	0	1	6	1	6	1	6	2	1	1	6	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:56420458G>A	ENST00000407595.2	+	2	1625	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	375								p.G375R(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACAAACACGGAGGAGGCAG	0.642													14	29					0	0	0	0	A	56420458	G	A	56420458	3	1	494	1	0	0	0	0	1	0	0	0	2886	1117	39	1	1129	1	CCDC85A	2	56420458	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2256558	56420458	186778915	62	95527											
AAK1	22848	broad.mit.edu	37	chr2	69870148	69870148	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagccgccctgctctcGccgggagtcgaaaaacttct	8	7	11	15	4	2	1	0	0	2	1	4	3	2	2	4	1	3	1	4	1	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:69870148G>A	ENST00000409085.4	-	2	401	c.25C>T	c.(25-27)Cga>Tga	p.R9*	AAK1_ENST00000409068.1_Nonsense_Mutation_p.R9*|AAK1_ENST00000406297.3_Nonsense_Mutation_p.R9*	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	9						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCCTGCTCTCGCCGGGAGTCG	0.517													7	12					0	0	0	0	A	69870148	G	A	69870148	4	1	494	1	0	0	0	0	0	1	0	0	16	1095	38	1	2944	1	AAK1	2	69870148	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	13449690	69870148	173329225	63	95528											
CNNM4	26504	broad.mit.edu	37	chr2	97427779	97427779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagatgttgaaggtgaCggagccctataatgacctcg	11	9	14	7	2	0	4	0	3	0	1	1	7	0	5	2	3	1	1	2	3	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:97427779C>T	ENST00000377075.2	+	1	1141	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	348	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTGAAGGTGACGGAGCCCTAT	0.507													72	232					0	0	0	0	T	97427779	C	T	97427779	3	4	494	1	0	0	0	0	1	0	0	0	3645	536	19	1	1045	1	CNNM4	2	97427779	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	27557631	97427779	145771594	64	95529											
IL18R1	8809	broad.mit.edu	37	chr2	103003414	103003414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatataattgcactgtggcCagcacgggaggcacagacac	12	8	11	10	1	0	1	0	0	0	1	0	2	0	2	1	3	2	3	1	3	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:103003414C>T	ENST00000409599.1	+	9	1259	c.903C>T	c.(901-903)gcC>gcT	p.A301A	IL18R1_ENST00000233957.1_Silent_p.A301A			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	301	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCACTGTGGCCAGCACGGGAG	0.383													25	100					0	0	0	0	T	103003414	C	T	103003414	2	4	494	1	0	0	0	0	0	0	0	1	7700	581	21	4		4	IL18R1	2	103003414	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5575635	103003414	140195959	65	95530											
IL18R1	8809	broad.mit.edu	37	chr2	103012989	103012989	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggttatcttgcattttcAgctgttgttgatgaaatcca	9	16	10	6	0	2	2	1	2	1	0	3	2	3	2	1	2	2	5	1	2	2	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:103012989A>T	ENST00000409599.1	+	12	1626		c.e12-1		IL18R1_ENST00000233957.1_Splice_Site			Q13478	IL18R_HUMAN	interleukin 18 receptor 1						innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGCATTTTCAGCTGTTGTTG	0.338													29	32					0	0	0	0	T	103012989	A	T	103012989	5	4	494	1	0	0	0	0	0	0	1	0	7700	202	7	5	1307	5	IL18R1	2	103012989	Splice_Site	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	9575	103012989	140186384	66	95531											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660538	125660538	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtcttccgtccagtacaaCcacatagcaccactgaaggc	12	8	7	14	1	1	1	0	1	1	0	3	1	3	1	4	1	3	2	4	1	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:125660538C>G	ENST00000431078.1	+	22	3877	c.3513C>G	c.(3511-3513)aaC>aaG	p.N1171K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1171	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCAGTACAACCACATAGCAC	0.502													13	34					0	0	0	0	G	125660538	C	G	125660538	3	3	494	1	0	0	0	0	1	0	0	0	3680	506	18	4	3599	4	CNTNAP5	2	125660538	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	22647549	125660538	117538835	67	95532											
MYO7B	4648	broad.mit.edu	37	chr2	128331592	128331592	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggtgatcgagggcgcGcgcatcgagcaatttctcct	7	8	15	11	6	1	1	0	1	1	0	4	3	1	1	1	3	2	2	1	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:128331592G>C	ENST00000389524.4	+	7	743	c.690G>C	c.(688-690)gcG>gcC	p.A230A	MYO7B_ENST00000428314.1_Silent_p.A230A|MYO7B_ENST00000409816.2_Silent_p.A230A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	230	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCGAGGGCGCGCGCATCGAGC	0.582													27	110					0	0	0	0	C	128331592	G	C	128331592	2	2	494	1	0	0	0	0	0	0	0	1	10153	1074	38	3		3	MYO7B	2	128331592	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2671054	128331592	114867781	68	95533											
NXPH2	11249	broad.mit.edu	37	chr2	139429085	139429085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgtacgccatggggccggGcttgggcaccggagactgtt	5	8	17	11	4	0	1	0	0	0	1	0	2	0	1	3	5	2	4	3	5	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:139429085G>A	ENST00000272641.3	-	2	308	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	68	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATGGGGCCGGGCTTGGGCACC	0.562													12	150					0	0	0	0	A	139429085	G	A	139429085	3	1	494	1	0	0	0	0	1	0	0	0	10862	1203	42	4	596	4	NXPH2	2	139429085	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	11097493	139429085	103770288	69	95534											
EPC2	26122	broad.mit.edu	37	chr2	149541326	149541326	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggtgttgtccagccttcagGtacagctggggtttcacatg	6	12	13	10	1	2	0	2	0	0	0	3	0	3	0	2	4	3	4	2	4	1	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:149541326G>A	ENST00000258484.6	+	12	2051		c.e12+1			NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)						chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CAGCCTTCAGGTACAGCTGGG	0.448													3	8					0	0	0	0	A	149541326	G	A	149541326	5	1	494	1	0	0	0	0	0	0	1	0	5199	1275	44	4	2064	4	EPC2	2	149541326	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	10112241	149541326	93658047	70	95535											
FIGN	55137	broad.mit.edu	37	chr2	164468075	164468075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgtgtccgaatagttGctgagtacgggtcggtccac	7	11	15	8	3	0	1	0	1	0	0	3	3	2	1	2	3	2	3	2	3	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:164468075G>C	ENST00000333129.3	-	3	581	c.267C>G	c.(265-267)agC>agG	p.S89R	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	89						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCGAATAGTTGCTGAGTACGG	0.453													43	205					0	0	0	0	C	164468075	G	C	164468075	3	2	494	1	0	0	0	0	1	0	0	0	5936	1310	46	4	2016	4	FIGN	2	164468075	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	14926749	164468075	78731298	71	95536											
GRB14	2888	broad.mit.edu	37	chr2	165383572	165383572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcataattttttctaaagtaTagtttgttttcttcttctat	9	23	4	5	0	4	0	0	0	4	0	4	0	4	0	0	0	0	4	0	0	6	13			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:165383572T>C	ENST00000263915.3	-	4	1093	c.555A>G	c.(553-555)ctA>ctG	p.L185L	GRB14_ENST00000543549.1_Silent_p.L98L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	185	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTAAAGTATAGTTTGTTTT	0.328													41	72					0	0	0	0	C	165383572	T	C	165383572	2	2	494	1	0	0	0	0	0	0	0	1	6807	1393	49	5		5	GRB14	2	165383572	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	915497	165383572	77815801	72	95537											
SCN2A	6326	broad.mit.edu	37	chr2	166201420	166201420	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgattggaaatctagTggtatgtagcaaaaacattt	14	13	10	4	0	1	1	0	1	1	0	1	2	1	2	0	3	2	3	0	3	6	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:166201420T>C	ENST00000375437.2	+	16	3208	c.2919_splice	c.e16+1	p.V973_splice	SCN2A_ENST00000375427.2_Splice_Site_p.V973_splice|SCN2A_ENST00000357398.3_Splice_Site_p.V973_splice|SCN2A_ENST00000283256.6_Splice_Site_p.V973_splice	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	973					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGAAATCTAGTGGTATGTAGC	0.363													32	138					0	0	0	0	C	166201420	T	C	166201420	5	2	494	1	0	0	0	0	0	0	1	0	14003	1710	59	5	3072	5	SCN2A	2	166201420	Splice_Site	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	817848	166201420	76997953	73	95538											
SCN1A	6323	broad.mit.edu	37	chr2	166894421	166894421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcaggaaggagtggaaGaagtcattcatgtgccagcg	14	7	13	7	1	3	1	3	0	0	1	3	4	3	4	1	3	2	0	1	3	4	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:166894421G>T	ENST00000423058.2	-	15	2828	c.2811C>A	c.(2809-2811)ttC>ttA	p.F937L	SCN1A_ENST00000303395.4_Missense_Mutation_p.F937L|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F926L|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F909L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	937						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGAGTGGAAGAAGTCATTCA	0.517													61	163					6.20203e-27	7.85936e-27	1	0	T	166894421	G	T	166894421	3	4	494	1	0	0	0	0	1	0	0	0	14001	933	33	2	3266	2	SCN1A	2	166894421	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	693001	166894421	76304952	74	95539											
NFE2L2	4780	broad.mit.edu	37	chr2	178096727	178096728	+	Frame_Shift_Ins	INS	-	-	A																															accagcttgtcattttcaatINSattaagacactgcatgagaa																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:178096727_178096728insA	ENST00000397062.3	-	5	1157_1158	c.603_604insT	c.(601-606)aattgafs	p.*202fs	NFE2L2_ENST00000397063.4_Frame_Shift_Ins_p.*186fs|NFE2L2_ENST00000446151.2_Frame_Shift_Ins_p.*179fs|NFE2L2_ENST00000464747.1_Frame_Shift_Ins_p.*186fs	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	202					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCATTTTCAATATTAAGACACT	0.332			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			38	86	---	---	---	---					A	178096728	-	A	178096727	7	5	494	1	0	1	1	0	0	0	0	0	10438	1406	49	0	1217	0	NFE2L2	2	178096727	Frame_Shift_Ins	INS	-	TCGA-UF-A71D-01A-12D-A34J-08	11202306	178096727	65102646	75	95540											
TTN	7273	broad.mit.edu	37	chr2	179615427	179615427	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcaaatcatcctttttTattctttcactagctatttc	8	21	1	11	0	5	0	3	0	2	0	8	0	6	0	1	0	1	1	1	0	4	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:179615427T>A	ENST00000360870.5	-	46	11922	c.11700A>T	c.(11698-11700)atA>atT	p.I3900I	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9723							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTTTTTTATTCTTTCAC	0.338													4	106					0	0	0	0	A	179615427	T	A	179615427	2	1	494	1	0	0	0	0	0	0	0	1	16831	1744	61	5		5	TTN	2	179615427	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	1518700	179615427	63583946	76	95541											
CWC22	57703	broad.mit.edu	37	chr2	180810347	180810347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgtgttcttgtcttctttCtttttgtttcctatcatttg	2	24	5	10	1	5	0	1	0	4	0	6	0	6	0	2	0	0	2	2	0	1	9			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:180810347C>T	ENST00000410053.3	-	20	2535	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	CWC22_ENST00000295749.6_Missense_Mutation_p.E746K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	746						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TGTCTTCTTTCTTTTTGTTTC	0.393													4	91					0	0	0	0	T	180810347	C	T	180810347	3	4	494	1	0	0	0	0	1	0	0	0	4100	922	32	2	494	2	CWC22	2	180810347	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1194920	180810347	62389026	77	95542											
FSIP2	401024	broad.mit.edu	37	chr2	186672313	186672313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtttataataatctcttgCcacagtttggatcacaagag	12	14	7	8	0	2	1	1	0	1	1	3	2	2	2	1	1	1	2	1	1	4	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:186672313C>A	ENST00000343098.5	+	17	18547	c.18547C>A	c.(18547-18549)Cca>Aca	p.P6183T	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6094T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAATCTCTTGCCACAGTTTGG	0.333													56	95					2.64514e-33	3.3945e-33	1	0	A	186672313	C	A	186672313	3	1	494	1	0	0	0	0	1	0	0	0	6123	739	26	4	18613	4	FSIP2	2	186672313	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5861966	186672313	56527060	78	95543											
GULP1	51454	broad.mit.edu	37	chr2	189406034	189406034	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgctatgtatttgacAgcgaaaagtgtgtaagtatc	12	15	10	4	1	0	1	0	1	0	0	1	2	0	1	0	0	2	4	0	0	6	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:189406034A>T	ENST00000409580.1	+	8	1102	c.388A>T	c.(388-390)Agc>Tgc	p.S130C	GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409609.1_Missense_Mutation_p.S130C|GULP1_ENST00000409637.3_Missense_Mutation_p.S130C|GULP1_ENST00000409843.1_Missense_Mutation_p.S130C|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000359135.3_Missense_Mutation_p.S130C|GULP1_ENST00000410051.1_Missense_Mutation_p.S130C|GULP1_ENST00000409830.1_Missense_Mutation_p.S130C			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	130	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TGTATTTGACAGCGAAAAGTG	0.343													38	95					0	0	0	0	T	189406034	A	T	189406034	3	4	494	1	0	0	0	0	1	0	0	0	6951	188	7	5	406	5	GULP1	2	189406034	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	2733721	189406034	53793339	79	95544											
SLC40A1	30061	broad.mit.edu	37	chr2	190430181	190430181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaccttccagagcagaacgTactccacgcacatggatacc	14	6	7	14	2	0	2	0	0	0	2	2	3	2	3	4	1	5	3	4	1	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:190430181T>C	ENST00000261024.2	-	6	1085	c.659A>G	c.(658-660)tAc>tGc	p.Y220C		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	220					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAGCAGAACGTACTCCACGCA	0.468													30	67					0	0	0	0	C	190430181	T	C	190430181	3	2	494	1	0	0	0	0	1	0	0	0	14716	1638	57	5	1068	5	SLC40A1	2	190430181	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	1024147	190430181	52769192	80	95545											
DNAH7	56171	broad.mit.edu	37	chr2	196636512	196636512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggtacctcctcatggCagcctcgatgtcgaagttgt	6	13	12	10	2	1	0	1	0	0	0	4	2	2	0	3	2	2	4	3	2	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:196636512C>T	ENST00000312428.6	-	61	11405	c.11305G>A	c.(11305-11307)Gcc>Acc	p.A3769T	DNAH7_ENST00000409063.1_Missense_Mutation_p.A252T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3769					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCCTCATGGCAGCCTCGATG	0.453													57	229					0	0	0	0	T	196636512	C	T	196636512	3	4	494	1	0	0	0	0	1	0	0	0	4642	710	25	4	789	4	DNAH7	2	196636512	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6206331	196636512	46562861	81	95546											
DNAH7	56171	broad.mit.edu	37	chr2	196786826	196786826	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttacctgtaacatctatcCgtgagtggtgtaataaccag	11	13	9	8	1	1	1	0	1	1	0	2	1	2	1	3	1	3	3	3	1	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:196786826C>A	ENST00000312428.6	-	24	4021	c.3921G>T	c.(3919-3921)acG>acT	p.T1307T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1307	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACATCTATCCGTGAGTGGTG	0.353													24	51					6.36457e-07	6.81357e-07	1	0	A	196786826	C	A	196786826	2	1	494	1	0	0	0	0	0	0	0	1	4642	639	23	3		3	DNAH7	2	196786826	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	150314	196786826	46412547	82	95547											
PLCL1	5334	broad.mit.edu	37	chr2	198950684	198950684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttatagggcaatatacgataCcatttgaatgtttgcagcct	12	14	8	7	1	0	1	0	1	0	0	0	2	0	1	2	1	4	3	2	1	7	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:198950684C>A	ENST00000428675.1	+	2	2841	c.2443C>A	c.(2443-2445)Cca>Aca	p.P815T	PLCL1_ENST00000437704.2_Missense_Mutation_p.P717T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	815					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATACGATACCATTTGAATG	0.438													33	103					1.61788e-16	1.89952e-16	1	0	A	198950684	C	A	198950684	3	1	494	1	0	0	0	0	1	0	0	0	12111	507	18	4	2449	4	PLCL1	2	198950684	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2163858	198950684	44248689	83	95548											
EPHA4	2043	broad.mit.edu	37	chr2	222301311	222301311	+	Frame_Shift_Del	DEL	A	A	-																															cccaccagctgaatgactgtAaatctgccatcatttttctg																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:222301311delA	ENST00000281821.2	-	13	2195	c.2154delT	c.(2152-2154)ttfs	p.F718fs	EPHA4_ENST00000392071.4_Frame_Shift_Del_p.F667fs|EPHA4_ENST00000409938.1_Frame_Shift_Del_p.F718fs|EPHA4_ENST00000409854.1_Frame_Shift_Del_p.F718fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	718	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GAATGACTGTAAATCTGCCAT	0.418													7	80	---	---	---	---					-	222301311	A	-	222301311	7	5	494	1	0	1	0	1	0	0	0	0	5207	359	13	0	826	0	EPHA4	2	222301311	Frame_Shift_Del	DEL	A	TCGA-UF-A71D-01A-12D-A34J-08	23350627	222301311	20898062	84	95549											
SUMF1	285362	broad.mit.edu	37	chr3	4403883	4403883	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatcccagattcgaagcaGagctatcaggtgtgttctgg	10	10	13	8	1	2	2	1	0	1	2	4	4	3	3	1	3	2	3	1	3	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:4403883G>C	ENST00000272902.5	-	9	1105	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	SUMF1_ENST00000458465.2_Missense_Mutation_p.S225C|SUMF1_ENST00000405420.2_Missense_Mutation_p.S337C|SUMF1_ENST00000383843.5_Missense_Mutation_p.S332C|SUMF1_ENST00000534863.1_Intron	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	357	Interaction with sulfatases.					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ATTCGAAGCAGAGCTATCAGG	0.532													14	68					0	0	0	0	C	4403883	G	C	4403883	3	2	494	1	0	0	0	0	1	0	0	0	15475	942	33	2	58	2	SUMF1	3	4403883	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08		4403883	193618547	85	95550											
ITPR1	3708	broad.mit.edu	37	chr3	4715055	4715055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctggtcggagattccctcgGagatcgccattgacgagtga	8	10	13	10	4	1	4	0	2	1	2	5	7	2	4	2	3	0	0	2	3	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:4715055G>A	ENST00000302640.8	+	20	2745	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	ITPR1_ENST00000423119.2_Missense_Mutation_p.E814K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E799K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E799K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.E814K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E814K	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	814					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GATTCCCTCGGAGATCGCCAT	0.522													30	106					0	0	0	0	A	4715055	G	A	4715055	3	1	494	1	0	0	0	0	1	0	0	0	7973	1175	41	2	2514	2	ITPR1	3	4715055	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	311172	4715055	193307375	86	95551											
GRM7	2917	broad.mit.edu	37	chr3	6903290	6903290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcggcgacatcaagaGggaaaacgggatccacaggc	12	3	14	12	3	1	1	1	0	0	1	2	4	2	3	2	4	2	0	2	4	3	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:6903290G>C	ENST00000486284.1	+	1	489	c.215G>C	c.(214-216)aGg>aCg	p.R72T	GRM7_ENST00000389336.4_Missense_Mutation_p.R72T|GRM7_ENST00000357716.4_Missense_Mutation_p.R72T|GRM7_ENST00000403881.1_Missense_Mutation_p.R72T|GRM7_ENST00000402647.2_Missense_Mutation_p.R72T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	72					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACATCAAGAGGGAAAACGGG	0.657													5	13					0	0	0	0	C	6903290	G	C	6903290	3	2	494	1	0	0	0	0	1	0	0	0	6852	1000	35	4	217	4	GRM7	3	6903290	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2188235	6903290	191119140	87	95552											
CAMK1	8536	broad.mit.edu	37	chr3	9804847	9804847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatgatgaggtagaggtggCccccactctcatagatgtca	10	9	12	10	0	2	4	2	2	1	2	3	4	2	4	2	3	0	2	2	3	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:9804847C>T	ENST00000256460.3	-	4	443	c.266G>A	c.(265-267)gGc>gAc	p.G89D	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	89	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTAGAGGTGGCCCCCACTCTC	0.577													27	80					0	0	0	0	T	9804847	C	T	9804847	3	4	494	1	0	0	0	0	1	0	0	0	2621	739	26	4	882	4	CAMK1	3	9804847	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2901557	9804847	188217583	88	95553											
IQSEC1	9922	broad.mit.edu	37	chr3	12950863	12950863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcttgagggttgggggCgttgaagtttattaacactt	7	14	14	6	2	1	2	0	2	1	0	1	2	1	2	1	4	1	3	1	4	3	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:12950863C>T	ENST00000273221.4	-	11	2746	c.2530G>A	c.(2530-2532)Gcc>Acc	p.A844T		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	844	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTTGGGGGCGTTGAAGTTT	0.537													43	155					0	0	0	0	T	12950863	C	T	12950863	3	4	494	1	0	0	0	0	1	0	0	0	7870	768	27	1	922	1	IQSEC1	3	12950863	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3146016	12950863	185071567	89	95554											
EAF1	85403	broad.mit.edu	37	chr3	15478027	15478027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacaacagtaggcctgcCgttgccaatggaaccagccg	10	6	10	15	2	0	0	0	0	0	0	0	1	0	1	6	2	6	2	6	2	5	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:15478027C>T	ENST00000396842.2	+	5	1130	c.705C>T	c.(703-705)gcC>gcT	p.A235A	EAF1_ENST00000432764.2_Silent_p.A134A|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	235	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GTAGGCCTGCCGTTGCCAATG	0.577													17	79					0	0	0	0	T	15478027	C	T	15478027	2	4	494	1	0	0	0	0	0	0	0	1	4911	639	23	1		1	EAF1	3	15478027	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2527164	15478027	182544403	90	95555											
TTC21A	199223	broad.mit.edu	37	chr3	39180235	39180235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgactaccccaagatcAgggaggaaattttggaaaag	15	6	10	10	1	1	1	1	0	0	1	1	5	1	4	4	3	1	0	4	3	5	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:39180235A>T	ENST00000301819.6	+	29	4099	c.3922A>T	c.(3922-3924)Agg>Tgg	p.R1308W	TTC21A_ENST00000431162.2_Missense_Mutation_p.R1307W|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1259W	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1307							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCCAAGATCAGGGAGGAAAT	0.572													15	77					0	0	0	0	T	39180235	A	T	39180235	3	4	494	1	0	0	0	0	1	0	0	0	16783	179	7	5	4036	5	TTC21A	3	39180235	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	23702208	39180235	158842195	91	95556											
MAP4	4134	broad.mit.edu	37	chr3	47958459	47958459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatgtccttggccagtgtCacatctaatttggtgggtga	7	14	12	8	0	2	1	1	1	1	0	3	1	3	1	2	3	1	1	2	3	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:47958459C>T	ENST00000426837.2	-	8	996	c.909G>A	c.(907-909)gtG>gtA	p.V303V	MAP4_ENST00000395734.3_Silent_p.V286V|MAP4_ENST00000383737.4_Silent_p.V286V|MAP4_ENST00000360240.6_Silent_p.V286V			P27816	MAP4_HUMAN	microtubule-associated protein 4	286	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGCCAGTGTCACATCTAATT	0.483													8	371					0	0	0	0	T	47958459	C	T	47958459	2	4	494	1	0	0	0	0	0	0	0	1	9327	813	29	2		2	MAP4	3	47958459	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	8778224	47958459	150063971	92	95557											
KLHDC8B	200942	broad.mit.edu	37	chr3	49211804	49211804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctgctatggggcctccaCcttcctgcacgggaacaaga	9	7	10	15	1	0	1	0	0	0	1	2	2	2	2	5	3	3	2	5	3	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:49211804C>T	ENST00000332780.2	+	3	718	c.509C>T	c.(508-510)aCc>aTc	p.T170I	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	170						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGGCCTCCACCTTCCTGCAC	0.612													21	77					0	0	0	0	T	49211804	C	T	49211804	3	4	494	1	0	0	0	0	1	0	0	0	8415	507	18	4	515	4	KLHDC8B	3	49211804	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1253345	49211804	148810626	93	95558											
FLNB	2317	broad.mit.edu	37	chr3	58064475	58064475	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgggaatcctgggacccGcagaagcctgtggataatgc	10	7	14	10	1	0	1	0	0	0	1	1	5	1	4	3	3	2	1	3	3	3	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:58064475G>C	ENST00000357272.4	+	3	738	c.573G>C	c.(571-573)ccG>ccC	p.P191P	FLNB_ENST00000419752.2_Silent_p.P22P|FLNB_ENST00000493452.1_Silent_p.P22P|FLNB_ENST00000490882.1_Silent_p.P191P|FLNB_ENST00000358537.3_Silent_p.P191P|FLNB_ENST00000348383.5_Silent_p.P191P|FLNB_ENST00000295956.4_Silent_p.P191P|FLNB_ENST00000429972.2_Silent_p.P191P			O75369	FLNB_HUMAN	filamin B, beta	191	Actin-binding.|CH 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGGACCCGCAGAAGCCTG	0.517													8	28					0	0	0	0	C	58064475	G	C	58064475	2	2	494	1	0	0	0	0	0	0	0	1	5979	1074	38	3		3	FLNB	3	58064475	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	8852671	58064475	139957955	94	95559											
KBTBD8	84541	broad.mit.edu	37	chr3	67058726	67058726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatgaaagtgtatgagaccCcagatcggctctgggacctt	10	9	13	9	1	1	3	0	2	1	2	2	6	1	5	3	3	0	2	3	3	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:67058726C>A	ENST00000295568.4	+	4	1776	c.1645C>A	c.(1645-1647)Cca>Aca	p.P549T	KBTBD8_ENST00000417314.2_Missense_Mutation_p.P575T|KBTBD8_ENST00000460576.1_Missense_Mutation_p.P133T	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	575										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTATGAGACCCCAGATCGGCT	0.443													55	91					4.70178e-45	6.08525e-45	1	0	A	67058726	C	A	67058726	3	1	494	1	0	0	0	0	1	0	0	0	8052	623	22	4	1737	4	KBTBD8	3	67058726	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	8994251	67058726	130963704	95	95560											
PROK2	60675	broad.mit.edu	37	chr3	71830630	71830630	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactaactttacgagtcagTggatggcagctgtctcccag	10	11	10	10	1	2	0	1	0	1	0	3	2	2	1	1	2	4	2	1	2	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:71830630T>A	ENST00000353065.3	-	2	363	c.210A>T	c.(208-210)ccA>ccT	p.P70P	PROK2_ENST00000295619.3_Silent_p.P70P	NM_021935.3	NP_068754.1	Q9HC23	PROK2_HUMAN	prokineticin 2	70					activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TACGAGTCAGTGGATGGCAGC	0.468													24	100					0	0	0	0	A	71830630	T	A	71830630	2	1	494	1	0	0	0	0	0	0	0	1	12631	1683	59	5		5	PROK2	3	71830630	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	4771904	71830630	126191800	96	95561											
GXYLT2	727936	broad.mit.edu	37	chr3	73004459	73004459	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagttaattcaggagtcAtgttaatgaatttaactcgg	13	13	10	5	1	2	1	2	1	0	0	3	3	2	3	0	3	1	2	0	3	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:73004459A>T	ENST00000389617.4	+	4	972	c.811A>T	c.(811-813)Atg>Ttg	p.M271L		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	271					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TTCAGGAGTCATGTTAATGAA	0.453													8	46					0	0	0	0	T	73004459	A	T	73004459	3	4	494	1	0	0	0	0	1	0	0	0	6954	217	8	5	825	5	GXYLT2	3	73004459	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	1173829	73004459	125017971	97	95562											
CNTN3	5067	broad.mit.edu	37	chr3	74535779	74535779	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atatcacttccattcagctgCcatctgtaaaacaaatatca	15	12	3	11	0	4	0	3	0	1	0	5	0	5	0	2	0	3	2	2	0	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:74535779C>T	ENST00000263665.6	-	3	213	c.186G>A	c.(184-186)tgG>tgA	p.W62*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	62	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATTCAGCTGCCATCTGTAAA	0.343													25	63					0	0	0	0	T	74535779	C	T	74535779	4	4	494	1	0	0	0	0	0	1	0	0	3672	740	26	4	2980	4	CNTN3	3	74535779	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1531320	74535779	123486651	98	95563											
ROBO2	6092	broad.mit.edu	37	chr3	77530290	77530290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctccaataccaggaaaaGtgatgcagggatgtatactt	14	10	10	7	0	1	1	0	1	1	0	2	4	1	3	2	2	3	2	2	2	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:77530290G>C	ENST00000461745.1	+	4	1487	c.587G>C	c.(586-588)aGt>aCt	p.S196T	ROBO2_ENST00000487694.3_Missense_Mutation_p.S212T|ROBO2_ENST00000332191.8_Missense_Mutation_p.S196T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	196	Ig-like C2-type 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCAGGAAAAGTGATGCAGGG	0.383													40	89					0	0	0	0	C	77530290	G	C	77530290	3	2	494	1	0	0	0	0	1	0	0	0	13599	1029	36	4	603	4	ROBO2	3	77530290	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2994511	77530290	120492140	99	95564											
LSAMP	4045	broad.mit.edu	37	chr3	116163757	116163757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccctgcctcacggtgAtgttgtccgtgcctcggtta	3	13	11	14	3	1	1	1	1	0	0	4	1	3	1	5	2	2	2	5	2	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:116163757A>T	ENST00000490035.1	-	1	621	c.122T>A	c.(121-123)aTc>aAc	p.I41N	LSAMP_ENST00000539563.1_Missense_Mutation_p.I38N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	41	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCTCACGGTGATGTTGTCCGT	0.557													18	33					0	0	0	0	T	116163757	A	T	116163757	3	4	494	1	0	0	0	0	1	0	0	0	9112	333	12	5	922	5	LSAMP	3	116163757	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	38633467	116163757	81858673	100	95565											
PLA1A	51365	broad.mit.edu	37	chr3	119325794	119325794	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggttcaatgccactctgGgaaccaaactaattatccat	12	11	7	11	0	2	0	1	0	1	0	3	1	3	1	3	2	3	1	3	2	5	3	rs141940849		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:119325794G>T	ENST00000273371.4	+	2	319	c.247G>T	c.(247-249)Gga>Tga	p.G83*	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Nonsense_Mutation_p.G67*|PLA1A_ENST00000495992.1_Nonsense_Mutation_p.G83*	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	83					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCACTCTGGGAACCAAACT	0.428													34	158					8.4185e-14	9.69645e-14	1	0	T	119325794	G	T	119325794	4	4	494	1	0	0	0	0	0	1	0	0	12060	1233	43	4	253	4	PLA1A	3	119325794	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3162037	119325794	78696636	101	95566											
GOLGB1	2804	broad.mit.edu	37	chr3	121415170	121415170	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgagtttttgcagttcAtccagtttaggttgcaattc	8	18	8	7	0	1	1	1	1	0	0	3	1	2	1	1	1	2	6	1	1	3	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:121415170A>T	ENST00000393667.3	-	13	4310	c.4200T>A	c.(4198-4200)gaT>gaA	p.D1400E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D1395E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1395					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGCAGTTCATCCAGTTTAG	0.418													108	173					0	0	0	0	T	121415170	A	T	121415170	3	4	494	1	0	0	0	0	1	0	0	0	6613	214	8	5	5634	5	GOLGB1	3	121415170	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	2089376	121415170	76607260	102	95567											
PIK3R4	30849	broad.mit.edu	37	chr3	130427223	130427223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaagtcaattacacctttCtgactactatcatgaagatg	13	12	6	10	0	3	3	2	2	1	1	3	3	3	3	2	0	2	0	2	0	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:130427223C>T	ENST00000356763.3	-	10	3002	c.2445G>A	c.(2443-2445)caG>caA	p.Q815Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	815					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTACACCTTTCTGACTACTAT	0.398													103	161					0	0	0	0	T	130427223	C	T	130427223	2	4	494	1	0	0	0	0	0	0	0	1	11993	912	32	2		2	PIK3R4	3	130427223	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9012053	130427223	67595207	103	95568											
SOX14	8403	broad.mit.edu	37	chr3	137484192	137484192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccagcacacgcacaCgcacccgtcccccaccaacc	10	1	5	25	3	0	0	0	0	0	0	1	0	1	0	8	0	3	3	8	0	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:137484192C>T	ENST00000306087.1	+	1	614	c.566C>T	c.(565-567)aCg>aTg	p.T189M		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	189					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CACACGCACACGCACCCGTCC	0.687													4	12					0	0	0	0	T	137484192	C	T	137484192	3	4	494	1	0	0	0	0	1	0	0	0	15033	536	19	1	568	1	SOX14	3	137484192	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	7056969	137484192	60538238	104	95569											
ZIC4	84107	broad.mit.edu	37	chr3	147113878	147113878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgaccagctcgtgcatgGtgctgaaagttttggagcag	8	10	15	8	2	0	2	0	2	0	0	1	3	0	3	1	2	4	5	1	2	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:147113878G>T	ENST00000383075.3	-	3	961	c.449C>A	c.(448-450)aCc>aAc	p.T150N	ZIC4_ENST00000425731.3_Missense_Mutation_p.T188N|ZIC4_ENST00000525172.2_Missense_Mutation_p.T200N|ZIC4_ENST00000473123.1_Missense_Mutation_p.T150N|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.T150N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	150						nucleus	DNA binding|zinc ion binding	p.T150I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CTCGTGCATGGTGCTGAAAGT	0.637													50	110					2.24059e-37	2.88756e-37	1	0	T	147113878	G	T	147113878	3	4	494	1	0	0	0	0	1	0	0	0	17776	1261	44	4	567	4	ZIC4	3	147113878	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	9629686	147113878	50908552	105	95570											
ZIC1	7545	broad.mit.edu	37	chr3	147128281	147128281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctgcatcggccgggggcTtcgggggcccacacggccac	4	6	16	15	4	0	0	0	0	0	0	2	0	0	0	3	6	2	3	3	6	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:147128281T>A	ENST00000282928.4	+	1	1111	c.382T>A	c.(382-384)Ttc>Atc	p.F128I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	128					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGGGGGCTTCGGGGGCCC	0.711													5	35					0	0	0	0	A	147128281	T	A	147128281	3	1	494	1	0	0	0	0	1	0	0	0	17773	1609	56	5	384	5	ZIC1	3	147128281	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	14403	147128281	50894149	106	95571											
PTX3	5806	broad.mit.edu	37	chr3	157160258	157160258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttttagtgcctgcatttgGgtcaaagccacagatgtatt	9	15	9	8	0	2	1	1	0	1	1	2	1	2	1	2	1	3	2	2	1	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:157160258G>T	ENST00000295927.3	+	3	781	c.636G>T	c.(634-636)tgG>tgT	p.W212C	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	212	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCTGCATTTGGGTCAAAGCCA	0.418													48	167					5.34276e-22	6.67295e-22	1	0	T	157160258	G	T	157160258	3	4	494	1	0	0	0	0	1	0	0	0	12904	1241	43	4	646	4	PTX3	3	157160258	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	10031977	157160258	40862172	107	95572											
ZBBX	79740	broad.mit.edu	37	chr3	167034854	167034854	+	Frame_Shift_Del	DEL	G	G	-																															ctatgtttaatgtttctactGgcaataaaagagctgtgtgt																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:167034854delG	ENST00000392766.2	-	14	1473	c.1133delC	c.(1132-1134)cafs	p.P378fs	ZBBX_ENST00000392764.1_Frame_Shift_Del_p.P349fs|ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000392767.2_Frame_Shift_Del_p.P378fs|ZBBX_ENST00000455345.2_Frame_Shift_Del_p.P378fs|ZBBX_ENST00000307529.5_Frame_Shift_Del_p.P378fs	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	378						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTTCTACTGGCAATAAAAG	0.323													25	140	---	---	---	---					-	167034854	G	-	167034854	7	5	494	1	0	1	0	1	0	0	0	0	17612	1348	47	0	1301	0	ZBBX	3	167034854	Frame_Shift_Del	DEL	G	TCGA-UF-A71D-01A-12D-A34J-08	9874596	167034854	30987576	108	95573											
TNIK	23043	broad.mit.edu	37	chr3	170846571	170846571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccactaatgctgaaggactCcgaccttgggggcaggttgg	8	9	14	10	1	0	1	0	1	0	0	2	3	2	2	3	5	1	3	3	5	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:170846571C>G	ENST00000436636.2	-	16	2049	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	TNIK_ENST00000284483.8_Missense_Mutation_p.E569Q|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000470834.1_Missense_Mutation_p.E540Q|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000369326.5_Missense_Mutation_p.E540Q|TNIK_ENST00000357327.5_Missense_Mutation_p.E540Q|TNIK_ENST00000341852.6_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	569	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGAAGGACTCCGACCTTGGG	0.567													11	31					0	0	0	0	G	170846571	C	G	170846571	3	3	494	1	0	0	0	0	1	0	0	0	16407	864	30	2	2449	2	TNIK	3	170846571	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3811717	170846571	27175859	109	95574											
NLGN1	22871	broad.mit.edu	37	chr3	173996853	173996853	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaccagctcgataccacatAgcctttggacctgtgattga	11	10	8	12	1	0	2	0	2	0	0	1	4	0	3	4	1	4	1	4	1	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:173996853A>T	ENST00000457714.1	+	6	1491	c.1062A>T	c.(1060-1062)atA>atT	p.I354I	NLGN1_ENST00000545397.1_Silent_p.I354I|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Silent_p.I394I|NLGN1_ENST00000361589.4_Silent_p.I354I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	371					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATACCACATAGCCTTTGGAC	0.413													86	196					0	0	0	0	T	173996853	A	T	173996853	2	4	494	1	0	0	0	0	0	0	0	1	10531	410	15	5		5	NLGN1	3	173996853	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	3150282	173996853	24025577	110	95575											
SOX2	6657	broad.mit.edu	37	chr3	181430877	181430877	+	Frame_Shift_Del	DEL	G	G	-																															cttggctccatgggttcggtGgtcaagtccgaggccagctc																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:181430877delG	ENST00000325404.1	+	1	1156	c.729delG	c.(727-729)gtfs	p.V244fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.V244fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	244					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TGGGTTCGGTGGTCAAGTCCG	0.647			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						18	96	---	---	---	---					-	181430877	G	-	181430877	7	5	494	1	0	1	0	1	0	0	0	0	15037	1335	47	0	731	0	SOX2	3	181430877	Frame_Shift_Del	DEL	G	TCGA-UF-A71D-01A-12D-A34J-08	7434024	181430877	16591553	111	95576											
TFRC	7037	broad.mit.edu	37	chr3	195799023	195799023	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgaattttcattcagcagCctggaggagaaaatgccttt	12	13	9	7	0	2	2	2	1	0	1	2	4	2	3	2	2	3	1	2	2	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:195799023C>A	ENST00000360110.4	-	5	604	c.434_splice	c.e5-1	p.K145_splice	TFRC_ENST00000420415.1_Splice_Site_p.K64_splice|TFRC_ENST00000392396.3_Splice_Site_p.K145_splice|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	145					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CATTCAGCAGCCTGGAGGAGA	0.308			T	BCL6	NHL								17	104					3.99206e-14	4.6068e-14	1	0	A	195799023	C	A	195799023	5	1	494	1	0	0	0	0	0	0	1	0	15906	753	26	4	1907	4	TFRC	3	195799023	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	14368146	195799023	2223407	112	95577											
ZNF721	170960	broad.mit.edu	37	chr4	435877	435877	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtttagcaaagcttgaGgatgacgtaatgactttgcc	11	14	10	6	1	0	3	0	3	0	0	0	4	0	4	1	1	3	4	1	1	4	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:435877G>C	ENST00000338977.5	-	2	2391	c.2343C>G	c.(2341-2343)tcC>tcG	p.S781S	ZNF721_ENST00000511833.2_Silent_p.S793S|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CAAAGCTTGAGGATGACGTAA	0.368													23	41					0	0	0	0	C	435877	G	C	435877	2	2	494	1	0	0	0	0	0	0	0	1	18217	987	35	4		4	ZNF721	4	435877	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08		435877	190718399	113	95578											
CCKAR	886	broad.mit.edu	37	chr4	26483384	26483384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggaccaggattggggCagcaggggaaggtggccatg	8	5	21	7	0	0	0	0	0	0	0	0	3	0	3	2	9	1	2	2	9	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:26483384C>T	ENST00000295589.3	-	5	1357	c.1163G>A	c.(1162-1164)tGc>tAc	p.C388Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	388					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGATTGGGGCAGCAGGGGAA	0.617													23	100					0	0	0	0	T	26483384	C	T	26483384	3	4	494	1	0	0	0	0	1	0	0	0	2907	710	25	4	127	4	CCKAR	4	26483384	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	26047507	26483384	164670892	114	95579											
FRYL	285527	broad.mit.edu	37	chr4	48559548	48559548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttctccccgtaaccaGcgcctactagtcaccataag	10	9	5	17	2	2	0	1	0	1	0	4	0	3	0	6	0	3	1	6	0	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:48559548G>A	ENST00000358350.4	-	34	4651	c.4047C>T	c.(4045-4047)cgC>cgT	p.R1349R	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.R1349R|FRYL_ENST00000537810.1_Silent_p.R1349R|FRYL_ENST00000503238.1_Silent_p.R1349R|FRYL_ENST00000507873.2_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1349					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCCGTAACCAGCGCCTACTAG	0.438													48	137					0	0	0	0	A	48559548	G	A	48559548	2	1	494	1	0	0	0	0	0	0	0	1	6112	958	34	4		4	FRYL	4	48559548	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	22076164	48559548	142594728	115	95580											
KIAA1211	57482	broad.mit.edu	37	chr4	57179362	57179362	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctattttaatctcccctacaGgttgctcccgttaaaccgtc	8	14	5	14	2	1	0	0	0	1	0	4	0	2	0	4	1	3	3	4	1	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:57179362G>T	ENST00000504228.1	+	5	459		c.e5-1		KIAA1211_ENST00000541073.1_Splice_Site|KIAA1211_ENST00000264229.6_Splice_Site			Q6ZU35	K1211_HUMAN	KIAA1211											endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCCCTACAGGTTGCTCCCG	0.552													98	221					4.84059e-39	6.25156e-39	1	0	T	57179362	G	T	57179362	5	4	494	1	0	0	0	0	0	0	1	0	8266	1014	35	4	368	4	KIAA1211	4	57179362	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	8619814	57179362	133974914	116	95581											
LPHN3	23284	broad.mit.edu	37	chr4	62845314	62845314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgacctccttctggatGtgatcacgtgggttggaatt	7	14	11	9	1	2	2	1	2	1	0	4	4	4	4	3	3	0	1	3	3	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:62845314G>T	ENST00000512091.1	+	17	3382	c.2635G>T	c.(2635-2637)Gtg>Ttg	p.V879L	LPHN3_ENST00000507625.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V879L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V879L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V879L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V947L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V947L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V947L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V879L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V879L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V947L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	866					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V879L(3)		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						CCTTCTGGATGTGATCACGTG	0.448													67	174					5.05157e-50	6.56596e-50	1	0	T	62845314	G	T	62845314	3	4	494	1	0	0	0	0	1	0	0	0	8981	1377	48	4	2693	4	LPHN3	4	62845314	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5665952	62845314	128308962	117	95582											
TECRL	253017	broad.mit.edu	37	chr4	65240897	65240897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaaacttacatgctttGtgaaacttttgcttaacatc	14	16	4	7	0	0	1	0	1	0	0	1	1	0	1	0	0	6	2	0	0	6	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:65240897G>A	ENST00000381210.3	-	2	389	c.279C>T	c.(277-279)caC>caT	p.H93H	TECRL_ENST00000507440.1_Silent_p.H93H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	93					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACATGCTTTGTGAAACTTTT	0.229													3	15					0	0	0	0	A	65240897	G	A	65240897	2	1	494	1	0	0	0	0	0	0	0	1	15840	1368	48	4		4	TECRL	4	65240897	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2395583	65240897	125913379	118	95583											
DCK	1633	broad.mit.edu	37	chr4	71863852	71863852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgggaagtggttcctgaaCctgttgccagatggtgcaat	9	12	13	7	0	0	2	0	1	0	1	1	3	1	3	3	3	3	3	3	3	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:71863852C>T	ENST00000286648.5	+	2	557	c.160C>T	c.(160-162)Cct>Tct	p.P54S	MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504952.1_Missense_Mutation_p.P54S|DCK_ENST00000504730.1_Missense_Mutation_p.P54S	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	54					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	GGTTCCTGAACCTGTTGCCAG	0.368													19	104					0	0	0	0	T	71863852	C	T	71863852	3	4	494	1	0	0	0	0	1	0	0	0	4322	507	18	4	166	4	DCK	4	71863852	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6622955	71863852	119290424	119	95584											
GC	2638	broad.mit.edu	37	chr4	72629156	72629156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctccccataagcagCatattgtgagcagactctat	10	14	6	11	0	3	2	0	1	3	1	4	2	3	2	2	0	3	3	2	0	3	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:72629156C>T	ENST00000273951.8	-	6	1013	c.670G>A	c.(670-672)Gct>Act	p.A224T	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.A224T|GC_ENST00000504199.1_Missense_Mutation_p.A243T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	224	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CCATAAGCAGCATATTGTGAG	0.363													19	88					0	0	0	0	T	72629156	C	T	72629156	3	4	494	1	0	0	0	0	1	0	0	0	6331	710	25	4	782	4	GC	4	72629156	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	765304	72629156	118525120	120	95585											
PRDM8	56978	broad.mit.edu	37	chr4	81123492	81123492	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcggcagcggcggcggCggcggccaccaggaggcgga	6	1	22	12	7	0	0	0	0	0	0	0	2	0	2	2	10	2	2	2	10	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:81123492C>A	ENST00000339711.4	+	10	2107	c.876C>A	c.(874-876)ggC>ggA	p.G292G	PRDM8_ENST00000415738.2_Silent_p.G292G|PRDM8_ENST00000504452.1_Silent_p.G292G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	292	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggcggcCACC	0.716											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0.014758	0.0150304	1	0	A	81123492	C	A	81123492	2	1	494	1	0	0	0	0	0	0	0	1	12542	755	27	3		3	PRDM8	4	81123492	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	8494336	81123492	110030784	121	95586											
FGF5	2250	broad.mit.edu	37	chr4	81196109	81196109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggattgtaggaatacgAggagttttcagcaacaaatt	14	10	12	5	1	1	0	1	0	0	0	1	4	1	3	0	4	3	3	0	4	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:81196109A>G	ENST00000312465.7	+	2	628	c.402A>G	c.(400-402)cgA>cgG	p.R134R	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_Intron	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	134					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TAGGAATACGAGGAGTTTTCA	0.343													20	49					0	0	0	0	G	81196109	A	G	81196109	2	3	494	1	0	0	0	0	0	0	0	1	5900	291	11	5		5	FGF5	4	81196109	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	72617	81196109	109958167	122	95587											
DSPP	1834	broad.mit.edu	37	chr4	88535067	88535067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcaatgtcaagacacaagGagaggttgtcaacatagaag	17	6	12	6	0	2	3	2	0	0	3	2	4	2	3	0	3	1	2	0	3	6	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:88535067G>A	ENST00000399271.1	+	5	1373	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	DSPP_ENST00000282478.7_Missense_Mutation_p.G418E|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	418					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGACACAAGGAGAGGTTGTC	0.413													15	77					0	0	0	0	A	88535067	G	A	88535067	3	1	494	1	0	0	0	0	1	0	0	0	4818	1174	41	2	1267	2	DSPP	4	88535067	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	7338958	88535067	102619209	123	95588											
TET2	54790	broad.mit.edu	37	chr4	106155065	106155065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctttagaattcaactagAgggcagccttgtggatggcc	9	11	12	9	0	2	2	1	0	1	2	2	3	2	3	2	3	2	2	2	3	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:106155065A>G	ENST00000513237.1	+	3	826	c.29A>G	c.(28-30)gAg>gGg	p.E10G	TET2_ENST00000305737.2_5'UTR|TET2_ENST00000380013.4_5'UTR|TET2_ENST00000394764.1_5'UTR|TET2_ENST00000413648.2_5'UTR|TET2_ENST00000540549.1_5'UTR|TET2_ENST00000545826.1_5'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTCAACTAGAGGGCAGCCTT	0.373			"Mis N, F"		MDS								16	48					0	0	0	0	G	106155065	A	G	106155065	3	3	494	1	0	0	0	0	1	0	0	0	15864	319	11	5		5	TET2	4	106155065	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	17619998	106155065	84999211	124	95589											
RRH	10692	broad.mit.edu	37	chr4	110763787	110763787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctataacccctgcatttatGtggttgctaataaaaagtaa	14	14	6	7	0	1	0	0	0	1	0	1	0	1	0	2	1	3	4	2	1	8	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:110763787G>A	ENST00000317735.4	+	6	917	c.883G>A	c.(883-885)Gtg>Atg	p.V295M		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	295					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTGCATTTATGTGGTTGCTAA	0.373													18	117					0	0	0	0	A	110763787	G	A	110763787	3	1	494	1	0	0	0	0	1	0	0	0	13765	1377	48	4	905	4	RRH	4	110763787	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4608722	110763787	80390489	125	95590											
USP53	54532	broad.mit.edu	37	chr4	120193113	120193113	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcagtaatggttctactAatttggactcacctgttatc	11	15	6	9	0	3	0	2	0	1	0	4	1	3	1	1	2	1	3	1	2	4	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:120193113A>T	ENST00000450251.1	+	12	2642	c.2098A>T	c.(2098-2100)Aat>Tat	p.N700Y	USP53_ENST00000274030.6_Missense_Mutation_p.N700Y			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	700					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGGTTCTACTAATTTGGACTC	0.388													66	128					0	0	0	0	T	120193113	A	T	120193113	3	4	494	1	0	0	0	0	1	0	0	0	17180	362	13	5	2144	5	USP53	4	120193113	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	9429326	120193113	70961163	126	95591											
PDE5A	8654	broad.mit.edu	37	chr4	120549802	120549802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgtcgctgctgccCgaagctggggccggcccgct	2	8	15	16	4	0	0	0	0	0	0	1	1	0	0	3	3	5	6	3	3	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:120549802C>A	ENST00000354960.3	-	1	344	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W		NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	9					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	cgctgctgcCCGAAGCTGGGG	0.642											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	65					7.07596e-05	7.39261e-05	1	0	A	120549802	C	A	120549802	3	1	494	1	0	0	0	0	1	0	0	0	11715	652	23	3	2716	3	PDE5A	4	120549802	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	356689	120549802	70604474	127	95592											
MAP9	79884	broad.mit.edu	37	chr4	156277005	156277005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagttctccttttagaacTagatttcttcaaaaactcag	12	15	6	8	0	4	2	2	0	2	2	5	3	4	3	1	1	2	1	1	1	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:156277005T>C	ENST00000311277.4	-	9	1416	c.1153A>G	c.(1153-1155)Agt>Ggt	p.S385G	AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S361G|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000601977.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	385					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTTTTAGAACTAGATTTCTTC	0.348													17	51					0	0	0	0	C	156277005	T	C	156277005	3	2	494	1	0	0	0	0	1	0	0	0	9339	1522	53	5	814	5	MAP9	4	156277005	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	35727203	156277005	34877271	128	95593											
FSTL5	56884	broad.mit.edu	37	chr4	162577617	162577617	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagtgatgcttagtttctGatcttctggcagactcaact	8	15	9	9	0	4	3	1	2	3	1	4	3	4	3	0	1	3	4	0	1	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:162577617G>A	ENST00000306100.5	-	7	1193	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q252*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	253	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTAGTTTCTGATCTTCTGGC	0.408													21	69					0	0	0	0	A	162577617	G	A	162577617	4	1	494	1	0	0	0	0	0	1	0	0	6128	1299	45	2	1826	2	FSTL5	4	162577617	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6300612	162577617	28576659	129	95594											
KLKB1	3818	broad.mit.edu	37	chr4	187173194	187173194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaacaaaaacaagcacaCgcattgttggaggaacaaac	19	4	8	10	1	0	0	0	0	0	0	0	2	0	2	0	2	5	4	0	2	6	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:187173194C>A	ENST00000264690.6	+	11	1355	c.1168C>A	c.(1168-1170)Cgc>Agc	p.R390S	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390S	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AACAAGCACACGCATTGTTGG	0.498													17	73					3.51602e-12	4.00417e-12	1	0	A	187173194	C	A	187173194	3	1	494	1	0	0	0	0	1	0	0	0	8464	536	19	3	1206	3	KLKB1	4	187173194	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	24595577	187173194	3981082	130	95595											
FAT1	2195	broad.mit.edu	37	chr4	187629000	187629000	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgactggcagccactgttAtgttgatatataatggtgtg	9	15	12	5	0	0	2	0	2	0	0	0	2	0	2	1	2	1	3	1	2	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:187629000A>C	ENST00000441802.2	-	2	2191	c.1982T>G	c.(1981-1983)aTa>aGa	p.I661R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	661	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCCACTGTTATGTTGATATA	0.448										HNSCC(5;0.00058)			20	59					0	0	0	0	C	187629000	A	C	187629000	3	2	494	1	0	0	0	0	1	0	0	0	5734	449	16	5	11888	5	FAT1	4	187629000	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	455806	187629000	3525276	131	95596											
LRRC14B	389257	broad.mit.edu	37	chr5	192397	192397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgctcaccctgcccacCaaggcctttgatgcaccccc	6	7	7	21	1	1	1	1	1	0	0	2	1	1	1	7	1	2	2	7	1	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:192397C>T	ENST00000328278.3	+	1	772	c.744C>T	c.(742-744)acC>acT	p.T248T		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	248										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCCTGCCCACCAAGGCCTTTG	0.697													3	12					0	0	0	0	T	192397	C	T	192397	2	4	494	1	0	0	0	0	0	0	0	1	9033	581	21	4		4	LRRC14B	5	192397	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		192397	180722863	132	95597											
SDHA	6389	broad.mit.edu	37	chr5	256470	256470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactctggaatatagacccGtgatcgacaaaactttgaac	14	10	7	10	2	2	3	1	2	1	1	3	5	2	4	1	1	2	0	1	1	6	3	rs3211483		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas				4	165					0	0	0	0	A	256470	G	A	256470	3	1	494	1	0	0	0	0	1	0	0	0	14050	1145	40	1	1988	1	SDHA	5	256470	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	64073	256470	180658790	133	95598											
PAPD7	11044	broad.mit.edu	37	chr5	6742679	6742679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacatggagacgggcgtccGggcagcggagttcatcaaga	11	6	15	9	4	2	2	2	0	0	2	3	4	3	3	1	4	2	2	1	4	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:6742679G>A	ENST00000230859.6	+	5	464	c.335G>A	c.(334-336)cGg>cAg	p.R112Q		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	112					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACGGGCGTCCGGGCAGCGGAG	0.478													23	62					0	0	0	0	A	6742679	G	A	6742679	3	1	494	1	0	0	0	0	1	0	0	0	11497	1116	39	1	349	1	PAPD7	5	6742679	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6486209	6742679	174172581	134	95599											
DNAH5	1767	broad.mit.edu	37	chr5	13900339	13900339	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttactgaagttccttttGtatctatctcgtttctggaa	8	19	7	7	1	3	1	0	1	3	0	5	2	4	2	1	1	1	4	1	1	5	7	rs139916610	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:13900339G>C	ENST00000265104.4	-	15	2339	c.2235C>G	c.(2233-2235)taC>taG	p.Y745*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	745	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTTCCTTTTGTATCTATCTC	0.388									Kartagener syndrome				25	97					0	0	0	0	C	13900339	G	C	13900339	4	2	494	1	0	0	0	0	0	1	0	0	4641	1372	48	4	11899	4	DNAH5	5	13900339	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	7157660	13900339	167014921	135	95600											
CDH18	1016	broad.mit.edu	37	chr5	19473591	19473591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacatctatgctttccaggGtggatgatgtctggtgtctg	7	14	13	7	0	3	1	0	1	3	0	4	3	4	2	1	3	2	1	1	3	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:19473591G>A	ENST00000507958.1	-	15	3107	c.2117C>T	c.(2116-2118)aCc>aTc	p.T706I	CDH18_ENST00000382275.1_Missense_Mutation_p.T706I|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.T706I			Q13634	CAD18_HUMAN	cadherin 18, type 2	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T706N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCTTTCCAGGGTGGATGATGT	0.493													23	104					0	0	0	0	A	19473591	G	A	19473591	3	1	494	1	0	0	0	0	1	0	0	0	3132	1261	44	4	259	4	CDH18	5	19473591	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5573252	19473591	161441669	136	95601											
CDH9	1007	broad.mit.edu	37	chr5	26881501	26881501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcaatattttcccacagaGgcacagtcctccttatctga	11	12	5	13	0	2	2	1	1	1	1	5	2	5	2	3	1	0	1	3	1	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:26881501G>A	ENST00000231021.4	-	12	2286	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	705					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCCACAGAGGCACAGTCCT	0.408													20	210					0	0	0	0	A	26881501	G	A	26881501	3	1	494	1	0	0	0	0	1	0	0	0	3146	1000	35	4	259	4	CDH9	5	26881501	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	7407910	26881501	154033759	137	95602											
CDH9	1007	broad.mit.edu	37	chr5	26903811	26903811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgaacatgtctgcacCatctccttcagcaatgctat	11	11	6	13	1	3	0	1	0	2	0	5	2	3	0	2	0	4	3	2	0	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:26903811C>T	ENST00000231021.4	-	6	1106	c.934G>A	c.(934-936)Ggt>Agt	p.G312S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATGTCTGCACCATCTCCTTCA	0.428													41	253					0	0	0	0	T	26903811	C	T	26903811	3	4	494	1	0	0	0	0	1	0	0	0	3146	594	21	4	1463	4	CDH9	5	26903811	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	22310	26903811	154011449	138	95603											
CDH6	1004	broad.mit.edu	37	chr5	31317853	31317853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacctatctcttgcctgtGgtcatttcagacaacgacta	10	12	7	12	1	3	1	2	0	1	1	4	2	3	1	2	1	3	1	2	1	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:31317853G>T	ENST00000265071.2	+	11	1969	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	CDH6_ENST00000514738.1_Silent_p.V513V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	568	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						TCTTGCCTGTGGTCATTTCAG	0.502													29	107					1.5548e-18	1.86884e-18	1	0	T	31317853	G	T	31317853	2	4	494	1	0	0	0	0	0	0	0	1	3143	1335	47	4		4	CDH6	5	31317853	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4414042	31317853	149597407	139	95604											
PDZD2	23037	broad.mit.edu	37	chr5	32074069	32074069	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagcccacaggccctcCgaaaccctctcctccgccag	8	4	8	21	3	1	0	0	0	1	0	4	2	3	1	8	2	2	0	8	2	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:32074069C>T	ENST00000438447.1	+	18	3245	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R953*			O15018	PDZD2_HUMAN	PDZ domain containing 2	953					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGGCCCTCCGAAACCCTCT	0.592													35	106					0	0	0	0	T	32074069	C	T	32074069	4	4	494	1	0	0	0	0	0	1	0	0	11772	644	23	1	2923	1	PDZD2	5	32074069	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	756216	32074069	148841191	140	95605											
ADAMTS12	81792	broad.mit.edu	37	chr5	33596097	33596097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccattgggctgtgtttctgGgtcacagaatgtagctttca	7	14	11	9	0	3	1	2	0	1	1	3	1	3	1	1	2	1	4	1	2	2	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:33596097G>A	ENST00000504830.1	-	17	2931	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P781S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	866	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTGTTTCTGGGTCACAGAAT	0.517										HNSCC(64;0.19)			28	171					0	0	0	0	A	33596097	G	A	33596097	3	1	494	1	0	0	0	0	1	0	0	0	257	1232	43	4	2220	4	ADAMTS12	5	33596097	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1522028	33596097	147319163	141	95606											
RAI14	26064	broad.mit.edu	37	chr5	34823347	34823347	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccgaagggcagaactggTatgcttaaacaacactgaga	15	7	10	9	1	0	2	0	1	0	2	1	4	1	2	1	2	4	3	1	2	6	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:34823347T>C	ENST00000265109.3	+	15	1687	c.1400T>C	c.(1399-1401)gTa>gCa	p.V467A	RAI14_ENST00000428746.2_Missense_Mutation_p.V467A|RAI14_ENST00000506376.1_Missense_Mutation_p.V459A|RAI14_ENST00000512629.1_Missense_Mutation_p.V438A|RAI14_ENST00000515799.1_Missense_Mutation_p.V470A|RAI14_ENST00000397449.1_Missense_Mutation_p.V460A|RAI14_ENST00000503673.1_Missense_Mutation_p.V467A	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	467						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GCAGAACTGGTATGCTTAAAC	0.438													62	71					0	0	0	0	C	34823347	T	C	34823347	3	2	494	1	0	0	0	0	1	0	0	0	13090	1638	57	5	1519	5	RAI14	5	34823347	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	1227250	34823347	146091913	142	95607											
SPEF2	79925	broad.mit.edu	37	chr5	35727788	35727788	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttaaggttctcctaaaGgaaaatcatcaggaggaaaa	17	10	9	5	0	3	0	2	0	1	0	4	3	3	3	1	4	0	2	1	4	7	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:35727788G>T	ENST00000440995.2	+	21	2911	c.2911G>T	c.(2911-2913)Gga>Tga	p.G971*	SPEF2_ENST00000356031.3_Nonsense_Mutation_p.G976*|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	976					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTCCTAAAGGAAAATCATC	0.383													25	73					1.36565e-18	1.64474e-18	1	0	T	35727788	G	T	35727788	4	4	494	1	0	0	0	0	0	1	0	0	15125	1001	35	4	3029	4	SPEF2	5	35727788	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	904441	35727788	145187472	143	95608											
CARD6	84674	broad.mit.edu	37	chr5	40853910	40853910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagacccatttgtcagcatGtacaggcctgccctgagaga	11	8	10	12	0	1	3	1	1	0	2	1	4	1	3	3	1	3	2	3	1	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:40853910G>T	ENST00000254691.5	+	3	2675	c.2476G>T	c.(2476-2478)Gta>Tta	p.V826L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	826					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTGTCAGCATGTACAGGCCTG	0.473													140	496					2.87455e-64	3.75236e-64	1	0	T	40853910	G	T	40853910	3	4	494	1	0	0	0	0	1	0	0	0	2675	1377	48	4	2486	4	CARD6	5	40853910	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5126122	40853910	140061350	144	95609											
EPB41L4A	64097	broad.mit.edu	37	chr5	111504461	111504461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaactgtagcatccccagaaCcctgagcatccgaagaacgg	13	5	10	13	2	0	3	0	1	0	2	2	5	2	3	4	1	5	3	4	1	5	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:111504461C>A	ENST00000261486.5	-	22	2183	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	636						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			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)		ATCCCCAGAACCCTGAGCATC	0.403													13	29					2.23348e-06	2.3743e-06	1	0	A	111504461	C	A	111504461	3	1	494	1	0	0	0	0	1	0	0	0	5193	507	18	4	161	4	EPB41L4A	5	111504461	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	70650551	111504461	69410799	145	95610											
WNT8A	7478	broad.mit.edu	37	chr5	137426742	137426742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcagtgcccagtccCtgggtaagggcagtgcctga	7	6	14	14	0	0	1	0	1	0	0	1	1	1	1	5	3	2	3	5	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:137426742C>G	ENST00000506684.1	+	5	1326	c.1090C>G	c.(1090-1092)Ctg>Gtg	p.L364V	WNT8A_ENST00000398754.1_Missense_Mutation_p.L346V			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	346					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCCAGTCCCTGGGTAAGGG	0.502													28	59					0	0	0	0	G	137426742	C	G	137426742	3	3	494	1	0	0	0	0	1	0	0	0	17492	680	24	4	1058	4	WNT8A	5	137426742	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	25922281	137426742	43488518	146	95611											
MATR3	9782	broad.mit.edu	37	chr5	138652771	138652771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaaacctgcaaggacctAgacacatgcagaaaggcaga	17	4	11	9	0	0	3	0	0	0	3	0	5	0	5	2	3	3	3	2	3	4	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:138652771A>G	ENST00000394800.2	+	10	1708	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G	MATR3_ENST00000509990.1_Missense_Mutation_p.R387G|MATR3_ENST00000510056.1_Missense_Mutation_p.R387G|MATR3_ENST00000502499.1_Missense_Mutation_p.R49G|MATR3_ENST00000394805.3_Missense_Mutation_p.R387G|MATR3_ENST00000504203.1_Missense_Mutation_p.R49G|MATR3_ENST00000502929.1_Missense_Mutation_p.R387G|MATR3_ENST00000361059.2_Missense_Mutation_p.R387G|MATR3_ENST00000503811.1_Missense_Mutation_p.R99G			P43243	MATR3_HUMAN	matrin 3	387						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAAGGACCTAGACACATGCA	0.353													20	24					0	0	0	0	G	138652771	A	G	138652771	3	3	494	1	0	0	0	0	1	0	0	0	9406	412	15	5	1177	5	MATR3	5	138652771	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	1226029	138652771	42262489	147	95612											
PCDHA1	56147	broad.mit.edu	37	chr5	140167229	140167229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgacgtgaatgacaacGcgcctgcgttcgcgcagccc	7	6	13	15	7	0	2	0	2	0	0	1	3	0	2	3	1	3	2	3	1	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140167229G>T	ENST00000504120.2	+	1	1354	c.1354G>T	c.(1354-1356)Gcg>Tcg	p.A452S	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A452S|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A452S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCGCCTGCGTT	0.677													55	59					8.28887e-21	1.02056e-20	1	0	T	140167229	G	T	140167229	3	4	494	1	0	0	0	0	1	0	0	0	11590	1087	38	3	1356	3	PCDHA1	5	140167229	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1514458	140167229	40748031	148	95613											
PCDHA8	56140	broad.mit.edu	37	chr5	140222682	140222682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcgggccacgtggtagcGaaggtgcgcgcagtggacgc	6	4	20	11	7	0	0	0	0	0	0	0	2	0	1	1	5	2	2	1	5	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140222682G>A	ENST00000531613.1	+	1	1776	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A592A	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGGTAGCGAAGGTGCGCG	0.697													50	45					0	0	0	0	A	140222682	G	A	140222682	2	1	494	1	0	0	0	0	0	0	0	1	11601	1045	37	1		1	PCDHA8	5	140222682	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	55453	140222682	40692578	149	95614											
PCDHB10	56126	broad.mit.edu	37	chr5	140574456	140574456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttatttcggatattcaGgcacagggccctgggaggaa	10	9	13	9	1	1	0	1	0	0	0	2	3	1	3	2	5	0	2	2	5	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140574456G>A	ENST00000239446.4	+	1	2515	c.2331G>A	c.(2329-2331)caG>caA	p.Q777Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		777					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGATATTCAGGCACAGGGCC	0.458													37	60					0	0	0	0	A	140574456	G	A	140574456	2	1	494	1	0	0	0	0	0	0	0	1	11606	991	35	4		4	PCDHB10	5	140574456	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	351774	140574456	40340804	150	95615											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725738	140725738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtcatcgtgctgctggCgctcaggctgcggcgctggc	2	10	15	14	5	2	0	2	0	0	0	4	0	2	0	0	4	3	5	0	4	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140725738C>T	ENST00000253812.6	+	1	2138	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGCTGGCGCTCAGGCTG	0.682													23	140					0	0	0	0	T	140725738	C	T	140725738	3	4	494	1	0	0	0	0	1	0	0	0	11626	768	27	1	2140	1	PCDHGA3	5	140725738	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	151282	140725738	40189522	151	95616											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793389	140793389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattcaccacctggtccTcaccgcctccgacgggggtg	5	7	12	17	3	2	0	2	0	0	0	4	1	4	0	7	4	0	0	7	4	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140793389T>C	ENST00000398610.2	+	1	647	c.647T>C	c.(646-648)cTc>cCc	p.L216P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGGTCCTCACCGCCTCC	0.592													3	42					0	0	0	0	C	140793389	T	C	140793389	3	2	494	1	0	0	0	0	1	0	0	0	11622	1551	54	5	649	5	PCDHGA10	5	140793389	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	67651	140793389	40121871	152	95617											
KCTD16	57528	broad.mit.edu	37	chr5	143586285	143586285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagggacaatggctcTgagtggaaactgtagtcgtt	13	9	14	5	1	1	2	0	1	1	1	2	5	1	4	0	3	1	3	0	3	5	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:143586285T>C	ENST00000507359.2	+	2	1099	c.8T>C	c.(7-9)cTg>cCg	p.L3P	KCTD16_ENST00000512467.1_Missense_Mutation_p.L3P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	3						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ACAATGGCTCTGAGTGGAAAC	0.458													18	51					0	0	0	0	C	143586285	T	C	143586285	3	2	494	1	0	0	0	0	1	0	0	0	8156	1580	55	5	10	5	KCTD16	5	143586285	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	2792896	143586285	37328975	153	95618											
HTR4	3360	broad.mit.edu	37	chr5	147845449	147845449	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagacaggaactggtctattGcagaagagcaggaggaagct	14	7	14	6	0	1	3	0	0	1	3	1	6	1	6	0	4	4	3	0	4	5	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:147845449G>T	ENST00000314512.6	-	7	1279	c.1116C>A	c.(1114-1116)tgC>tgA	p.C372*	HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Nonsense_Mutation_p.C372*|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0			C -> Y (in dbSNP:rs34826744).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CTGGTCTATTGCAGAAGAGCA	0.438													35	80					6.50621e-10	7.19357e-10	1	0	T	147845449	G	T	147845449	4	4	494	1	0	0	0	0	0	1	0	0	7502	1311	46	4	116	4	HTR4	5	147845449	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4259164	147845449	33069811	154	95619											
ARHGEF37	389337	broad.mit.edu	37	chr5	148977395	148977395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtccggacagggaaggtagGgcctctgaggacagatcgct	10	6	16	9	2	1	2	0	1	1	1	3	5	2	5	2	5	0	2	2	5	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:148977395G>A	ENST00000333677.6	+	2	226	c.63G>A	c.(61-63)agG>agA	p.R21R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	21					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGGAAGGTAGGGCCTCTGAGG	0.592													17	26					0	0	0	0	A	148977395	G	A	148977395	2	1	494	1	0	0	0	0	0	0	0	1	908	1223	43	4		4	ARHGEF37	5	148977395	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1131946	148977395	31937865	155	95620											
TNIP1	10318	broad.mit.edu	37	chr5	150444653	150444653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggtacggtcctctcccttCcatgagggtagctcagcccc	5	9	10	17	2	2	1	1	1	1	0	5	1	4	1	6	3	3	3	6	3	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:150444653C>T	ENST00000389378.2	-	2	592	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TNIP1_ENST00000523200.1_Missense_Mutation_p.E2K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E2K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E2K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E2K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E2K|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.E2K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E2K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	2					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTCCCTTCCATGAGGGTA	0.627													9	16					0	0	0	0	T	150444653	C	T	150444653	3	4	494	1	0	0	0	0	1	0	0	0	16408	864	30	2	1974	2	TNIP1	5	150444653	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1467258	150444653	30470607	156	95621											
ADAM19	8728	broad.mit.edu	37	chr5	156940468	156940468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatagttggcgatctctaTgagcttgtgtttggtggcgt	7	15	13	6	2	1	1	0	1	1	0	2	2	1	1	0	3	2	3	0	3	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:156940468T>C	ENST00000257527.4	-	8	790	c.712A>G	c.(712-714)Ata>Gta	p.I238V	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.I238V|ADAM19_ENST00000394020.1_Missense_Mutation_p.I240V	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	238	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGATCTCTATGAGCTTGTGT	0.512													32	96					0	0	0	0	C	156940468	T	C	156940468	3	2	494	1	0	0	0	0	1	0	0	0	240	1464	51	5	2108	5	ADAM19	5	156940468	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	6495815	156940468	23974792	157	95622											
LCP2	3937	broad.mit.edu	37	chr5	169675713	169675713	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacttgctatgggtacccTgcagcatgcgttaatgtgca	10	12	10	9	1	0	0	0	0	0	0	0	0	0	0	1	1	7	6	1	1	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:169675713T>A	ENST00000046794.5	-	21	2205	c.1590A>T	c.(1588-1590)gcA>gcT	p.A530A	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Silent_p.A325A	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	530	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ATGGGTACCCTGCAGCATGCG	0.468													75	95					0	0	0	0	A	169675713	T	A	169675713	2	1	494	1	0	0	0	0	0	0	0	1	8745	1567	55	5		5	LCP2	5	169675713	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	12735245	169675713	11239547	158	95623											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171780911	171780911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgatcttccaccagccttCcaggtttttctggatgacct	6	14	7	14	0	2	2	0	2	2	0	4	3	4	3	6	2	1	1	6	2	0	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:171780911C>T	ENST00000311601.5	-	9	936	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E256K	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	256	SH3 2.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACCAGCCTTCCAGGTTTTTC	0.592													13	24					0	0	0	0	T	171780911	C	T	171780911	3	4	494	1	0	0	0	0	1	0	0	0	14345	864	30	2	1989	2	SH3PXD2B	5	171780911	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2105198	171780911	9134349	159	95624											
HK3	3101	broad.mit.edu	37	chr5	176308809	176308809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaaaaggatgtggcggacGatctcccccaggtacatgcc	10	8	12	11	2	1	0	0	0	1	0	2	3	1	2	3	4	2	2	3	4	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:176308809G>A	ENST00000292432.5	-	17	2368	c.2277C>T	c.(2275-2277)atC>atT	p.I759I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	759	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGGCGGACGATCTCCCCCA	0.567													32	52					0	0	0	0	A	176308809	G	A	176308809	2	1	494	1	0	0	0	0	0	0	0	1	7242	1048	37	1		1	HK3	5	176308809	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4527898	176308809	4606451	160	95625											
NSD1	64324	broad.mit.edu	37	chr5	176638165	176638165	+	Frame_Shift_Del	DEL	C	C	-																															agatatgcatgatagtaagaCgaaggagcagcggttgatga																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:176638165delC	ENST00000439151.2	+	5	2810	c.2765delC	c.(2764-2766)agfs	p.T922fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.T653fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.T653fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.T819fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	922					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GATAGTAAGACGAAGGAGCAG	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			23	30	---	---	---	---					-	176638165	C	-	176638165	7	5	494	1	0	1	0	1	0	0	0	0	10740	536	19	0	2779	0	NSD1	5	176638165	Frame_Shift_Del	DEL	C	TCGA-UF-A71D-01A-12D-A34J-08	329356	176638165	4277095	161	95626											
JARID2	3720	broad.mit.edu	37	chr6	15496739	15496739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggggggcggcagctgcGggagggcctgcagctgcggg	3	4	25	9	3	0	0	0	0	0	0	0	1	0	1	1	8	5	4	1	8	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:15496739G>A	ENST00000341776.2	+	7	1527	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	JARID2_ENST00000397311.3_Missense_Mutation_p.R256Q|JARID2_ENST00000541660.1_Missense_Mutation_p.R390Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	428					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGCAGCTGCGGGAGGGCCTG	0.652													14	52					0	0	0	0	A	15496739	G	A	15496739	3	1	494	1	0	0	0	0	1	0	0	0	7998	1116	39	1	1309	1	JARID2	6	15496739	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08		15496739	155618328	162	95627											
RBM24	221662	broad.mit.edu	37	chr6	17292144	17292144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctgctgctgccgccGccgctgctgcctatgaccag	4	8	12	17	3	0	1	0	1	0	0	0	1	0	1	5	0	7	6	5	0	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:17292144G>A	ENST00000379052.5	+	4	741	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.A111T|RBM24_ENST00000318204.5_Missense_Mutation_p.A124T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	169	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			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)			tgctgccgccgccgctgctgc	0.597													4	74					0	0	0	0	A	17292144	G	A	17292144	3	1	494	1	0	0	0	0	1	0	0	0	13206	1087	38	1	552	1	RBM24	6	17292144	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1795405	17292144	153822923	163	95628											
CDKAL1	54901	broad.mit.edu	37	chr6	20846391	20846391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaactagtagatagaGccaaacaatcttttcaaggt	15	12	8	6	0	2	4	1	2	1	2	2	4	2	4	1	1	3	1	1	1	7	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:20846391G>A	ENST00000274695.4	+	9	891	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	CDKAL1_ENST00000378624.4_Missense_Mutation_p.A172T|CDKAL1_ENST00000378610.1_Missense_Mutation_p.A242T	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	242					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGTAGATAGAGCCAAACAATC	0.328													10	62					0	0	0	0	A	20846391	G	A	20846391	3	1	494	1	0	0	0	0	1	0	0	0	3181	971	34	4	750	4	CDKAL1	6	20846391	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3554247	20846391	150268676	164	95629											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27100932	27100932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggtctccagttccccGtgggccgagtgcaccgcctg	3	7	15	16	4	1	0	0	0	1	0	3	1	2	0	7	3	1	2	7	3	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:27100932G>T	ENST00000359193.2	+	1	101	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	28					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CCAGTTCCCCGTGGGCCGAGT	0.667													32	66					1.61788e-16	1.89952e-16	1	0	T	27100932	G	T	27100932	3	4	494	1	0	0	0	0	1	0	0	0	7183	1145	40	3	84	3	HIST1H2AG	6	27100932	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6254541	27100932	144014135	165	95630											
HIST1H2AJ	8331	broad.mit.edu	37	chr6	27782203	27782203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgttgggcaggacgccacCctgtgcgatggtgactttgc	6	10	15	10	2	0	1	0	1	0	0	0	4	0	2	2	3	2	2	2	3	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:27782203C>T	ENST00000333151.3	-	1	404	c.316G>A	c.(316-318)Ggt>Agt	p.G106S		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	106					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						AGGACGCCACCCTGTGCGATG	0.537													41	132					0	0	0	0	T	27782203	C	T	27782203	3	4	494	1	0	0	0	0	1	0	0	0	7186	623	22	4	74	4	HIST1H2AJ	6	27782203	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	681271	27782203	143332864	166	95631											
HLA-B	3106	broad.mit.edu	37	chr6	31323092	31323093	+	Splice_Site	INS	-	-	C																															acccctcatccccctccttaINSccccatctcagggtgagggg																								rs111351373		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:31323092_31323093insC	ENST00000412585.2	-	4	924		c.e4+1			NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B									p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCCCTCCTTACCCCATCTCAG	0.589									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				23	75	---	---	---	---					C	31323093	-	C	31323092	8	5	494	1	0	1	1	0	0	0	1	0	7246	405	14	0	207	0	HLA-B	6	31323092	Splice_Site	INS	-	TCGA-UF-A71D-01A-12D-A34J-08	3540889	31323092	139791975	167	95632											
VARS	7407	broad.mit.edu	37	chr6	31747309	31747309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcctcggggtccttccagGagcactgtggggtggaggag	5	8	18	10	1	0	0	0	0	0	0	3	3	2	3	3	7	2	1	3	7	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:31747309G>A	ENST00000375663.3	-	28	3733	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1098					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GTCCTTCCAGGAGCACTGTGG	0.687													7	29					0	0	0	0	A	31747309	G	A	31747309	3	1	494	1	0	0	0	0	1	0	0	0	17219	1174	41	2	513	2	VARS	6	31747309	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	424217	31747309	139367758	168	95633											
DAXX	1616	broad.mit.edu	37	chr6	33286951	33286951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggcagggtacatatCtttttcccattcttctcatg	6	15	10	10	0	3	0	1	0	3	0	5	0	4	0	1	3	1	3	1	3	2	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:33286951C>A	ENST00000374542.5	-	7	2190	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	DAXX_ENST00000266000.6_Missense_Mutation_p.K662N|DAXX_ENST00000414083.2_Missense_Mutation_p.K587N	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	662	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGTACATATCTTTTTCCCAT	0.542			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								31	82					9.78306e-22	1.21687e-21	1	0	A	33286951	C	A	33286951	3	1	494	1	0	0	0	0	1	0	0	0	4276	912	32	2	244	2	DAXX	6	33286951	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1539642	33286951	137828116	169	95634											
PHF1	5252	broad.mit.edu	37	chr6	33382522	33382522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcatttcagggagagagaTtaagaagaggaaatgtttgt	14	13	12	2	0	2	4	2	0	0	4	2	7	2	5	0	2	0	1	0	2	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:33382522T>C	ENST00000374516.3	+	11	1236	c.965T>C	c.(964-966)aTt>aCt	p.I322T	PHF1_ENST00000374512.3_Missense_Mutation_p.I322T	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	322					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGGAGAGAGATTAAGAAGAGG	0.502											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	179					0	0	0	0	C	33382522	T	C	33382522	3	2	494	1	0	0	0	0	1	0	0	0	11892	1493	52	5	1003	5	PHF1	6	33382522	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	95571	33382522	137732545	170	95635											
PIM1	5292	broad.mit.edu	37	chr6	37140900	37140900	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcctttcgagcatgacGaagagatcatcaggggccag	12	9	11	9	2	2	2	2	1	0	1	4	5	3	2	2	2	1	1	2	2	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:37140900G>T	ENST00000373509.5	+	5	1109	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	337	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGAGCATGACGAAGAGATCAT	0.532			T	BCL6	NHL								20	67					1.01871e-10	1.14088e-10	1	0	T	37140900	G	T	37140900	4	4	494	1	0	0	0	0	0	1	0	0	11999	1059	37	3	754	3	PIM1	6	37140900	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3758378	37140900	133974167	171	95636											
PTCRA	171558	broad.mit.edu	37	chr6	42893304	42893304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcttacctcagcagttacCccacttgcccagcacaggcc	8	8	8	17	0	2	0	1	0	1	0	2	0	2	0	5	2	5	3	5	2	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:42893304C>T	ENST00000304672.1	+	4	811	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	PTCRA_ENST00000441198.1_Missense_Mutation_p.P219S|PTCRA_ENST00000446507.1_Missense_Mutation_p.P137S	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	244						integral to membrane	receptor activity			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)			CAGCAGTTACCCCACTTGCCC	0.642													3	15					0	0	0	0	T	42893304	C	T	42893304	3	4	494	1	0	0	0	0	1	0	0	0	12814	623	22	4	744	4	PTCRA	6	42893304	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5752404	42893304	128221763	172	95637											
PLA2G7	7941	broad.mit.edu	37	chr6	46672926	46672926	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctaatgaagctttgtTgctaagatcaatagctacat	14	13	8	6	0	1	2	1	1	0	1	1	3	1	2	0	0	5	5	0	0	7	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:46672926T>A	ENST00000274793.7	-	11	1349	c.1153A>T	c.(1153-1155)Aac>Tac	p.N385Y	PLA2G7_ENST00000537365.1_Missense_Mutation_p.N385Y	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	385					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GAAGCTTTGTTGCTAAGATCA	0.338													20	77					0	0	0	0	A	46672926	T	A	46672926	3	1	494	1	0	0	0	0	1	0	0	0	12081	1812	63	5	180	5	PLA2G7	6	46672926	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	3779622	46672926	124442141	173	95638											
MUT	4594	broad.mit.edu	37	chr6	49416584	49416584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcaattcgaagtttaggTattccctcagctacagcttt	9	16	6	10	1	3	0	2	0	1	0	5	1	4	0	1	1	3	4	1	1	5	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:49416584T>C	ENST00000274813.3	-	7	1516	c.1389A>G	c.(1387-1389)atA>atG	p.I463M		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	463					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGTTTAGGTATTCCCTCAG	0.323													55	131					0	0	0	0	C	49416584	T	C	49416584	3	2	494	1	0	0	0	0	1	0	0	0	10061	1628	57	5	891	5	MUT	6	49416584	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	2743658	49416584	121698483	174	95639											
GSTA5	221357	broad.mit.edu	37	chr6	52701090	52701090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttgctggcaatgtagttAagaatggctctggtctgcac	9	14	11	7	0	2	1	0	0	2	1	2	1	2	1	0	3	2	6	0	3	5	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:52701090A>G	ENST00000370989.1	-	4	374	c.216T>C	c.(214-216)ctT>ctC	p.L72L	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Silent_p.L72L			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	72	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAATGTAGTTAAGAATGGCTC	0.423													72	234					0	0	0	0	G	52701090	A	G	52701090	2	3	494	1	0	0	0	0	0	0	0	1	6884	349	13	5		5	GSTA5	6	52701090	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	3284506	52701090	118413977	175	95640											
EYS	346007	broad.mit.edu	37	chr6	66115122	66115122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtactaatgaaaactcaCtgacatcagtttcaccattt	14	13	5	9	0	3	2	3	2	0	0	3	2	3	2	1	1	2	2	1	1	4	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:66115122C>A	ENST00000503581.1	-	6	1538	c.1001G>T	c.(1000-1002)aGt>aTt	p.S334I	EYS_ENST00000342421.5_Missense_Mutation_p.S334I|EYS_ENST00000370616.2_Missense_Mutation_p.S334I|EYS_ENST00000370618.3_Missense_Mutation_p.S334I|EYS_ENST00000370621.3_Missense_Mutation_p.S334I|EYS_ENST00000393380.2_Missense_Mutation_p.S334I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	334	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGAAAACTCACTGACATCAGT	0.343													38	135					5.43694e-19	6.58727e-19	1	0	A	66115122	C	A	66115122	3	1	494	1	0	0	0	0	1	0	0	0	5370	565	20	4	8547	4	EYS	6	66115122	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	13414032	66115122	104999945	176	95641											
EYS	346007	broad.mit.edu	37	chr6	66204963	66204963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgtggtattttgcacaCagccaacgaaagatgtttca	11	12	9	9	2	1	1	1	0	0	1	1	2	1	1	2	1	3	4	2	1	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:66204963C>A	ENST00000503581.1	-	4	878	c.341G>T	c.(340-342)tGt>tTt	p.C114F	EYS_ENST00000342421.5_Missense_Mutation_p.C114F|EYS_ENST00000370616.2_Missense_Mutation_p.C114F|EYS_ENST00000370618.3_Missense_Mutation_p.C114F|EYS_ENST00000370621.3_Missense_Mutation_p.C114F|EYS_ENST00000393380.2_Missense_Mutation_p.C114F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	114					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTTTGCACACAGCCAACGAA	0.358													25	74					1.36565e-18	1.64474e-18	1	0	A	66204963	C	A	66204963	3	1	494	1	0	0	0	0	1	0	0	0	5370	478	17	4	9215	4	EYS	6	66204963	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	89841	66204963	104910104	177	95642											
MTO1	25821	broad.mit.edu	37	chr6	74207459	74207459	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attctgattttgttgaccagCcacttatgaatcagtgttgt	9	17	8	7	0	2	3	1	3	1	0	2	3	2	3	2	0	1	2	2	0	2	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:74207459C>T	ENST00000498286.1	+	11	2034	c.1756_splice	c.e11-1	p.A586_splice	MTO1_ENST00000370305.1_Splice_Site_p.A537_splice|MTO1_ENST00000415954.2_Splice_Site_p.A626_splice|MTO1_ENST00000370300.4_Splice_Site_p.A611_splice			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	611				LA -> CT (in Ref. 1; AAL35894).	tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGTTGACCAGCCACTTATGAA	0.333													11	72					0	0	0	0	T	74207459	C	T	74207459	5	4	494	1	0	0	0	0	0	0	1	0	10023	753	26	4	2002	4	MTO1	6	74207459	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	8002496	74207459	96907608	178	95643											
SLC16A10	117247	broad.mit.edu	37	chr6	111543244	111543244	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggctcctatgatgtggcaTtctacctcgctggagtccct	5	13	11	12	1	1	1	0	1	1	0	4	2	3	2	3	3	1	3	3	3	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:111543244T>C	ENST00000368850.3	+	5	898	c.412T>C	c.(412-414)Ttc>Ctc	p.F138L	SLC16A10_ENST00000368851.5_Missense_Mutation_p.F452L			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	452					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGATGTGGCATTCTACCTCGC	0.493													14	119					0	0	0	0	C	111543244	T	C	111543244	3	2	494	1	0	0	0	0	1	0	0	0	14491	1493	52	5	1376	5	SLC16A10	6	111543244	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	37335785	111543244	59571823	179	95644											
RSPO3	84870	broad.mit.edu	37	chr6	127476453	127476453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggaaaaacatgtggcttCaaaagagggactgaaacacg	18	5	12	6	1	1	2	1	1	0	1	1	4	1	4	0	3	2	1	0	3	6	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:127476453C>T	ENST00000356698.4	+	4	1093	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RSPO3_ENST00000368317.3_Silent_p.F168F	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	168	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CATGTGGCTTCAAAAGAGGGA	0.468													68	116					0	0	0	0	T	127476453	C	T	127476453	2	4	494	1	0	0	0	0	0	0	0	1	13796	825	29	2		2	RSPO3	6	127476453	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	15933209	127476453	43638614	180	95645											
LAMA2	3908	broad.mit.edu	37	chr6	129591784	129591784	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaactgtaaggatcacAcaggtggcccatattgtgat	12	10	10	9	0	2	2	2	1	0	1	2	3	2	3	1	3	1	1	1	3	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:129591784A>T	ENST00000421865.2	+	17	2387	c.2338A>T	c.(2338-2340)Aca>Tca	p.T780S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	780	Laminin EGF-like 6.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TAAGGATCACACAGGTGGCCC	0.418													23	130					0	0	0	0	T	129591784	A	T	129591784	3	4	494	1	0	0	0	0	1	0	0	0	8659	159	6	5	2404	5	LAMA2	6	129591784	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	2115331	129591784	41523283	181	95646											
GRM1	2911	broad.mit.edu	37	chr6	146708096	146708096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaatgaatatgtgcaagAtgagttcacctgcaaagctt	15	10	10	6	0	1	4	1	2	0	2	1	5	1	4	1	0	3	4	1	0	5	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:146708096A>G	ENST00000392299.2	+	7	2143	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	GRM1_ENST00000507907.1_Missense_Mutation_p.D558G|GRM1_ENST00000355289.4_Missense_Mutation_p.D558G|GRM1_ENST00000282753.1_Missense_Mutation_p.D558G|GRM1_ENST00000492807.2_Missense_Mutation_p.D558G|GRM1_ENST00000361719.2_Missense_Mutation_p.D558G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	558					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TATGTGCAAGATGAGTTCACC	0.438													42	140					0	0	0	0	G	146708096	A	G	146708096	3	3	494	1	0	0	0	0	1	0	0	0	6846	333	12	5	1695	5	GRM1	6	146708096	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	17116312	146708096	24406971	182	95647											
GRM1	2911	broad.mit.edu	37	chr6	146720184	146720184	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcctctcctctgcgaTgtgctactctgctttagtga	4	15	11	11	1	3	1	0	1	3	0	4	2	3	1	2	2	4	3	2	2	2	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:146720184T>A	ENST00000392299.2	+	8	2479	c.2009T>A	c.(2008-2010)aTg>aAg	p.M670K	GRM1_ENST00000507907.1_Missense_Mutation_p.M670K|GRM1_ENST00000355289.4_Missense_Mutation_p.M670K|GRM1_ENST00000282753.1_Missense_Mutation_p.M670K|GRM1_ENST00000492807.2_Missense_Mutation_p.M670K|GRM1_ENST00000361719.2_Missense_Mutation_p.M670K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	670					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCTCTGCGATGTGCTACTCT	0.532													63	199					0	0	0	0	A	146720184	T	A	146720184	3	1	494	1	0	0	0	0	1	0	0	0	6846	1464	51	5	2035	5	GRM1	6	146720184	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	12088	146720184	24394883	183	95648											
SYNE1	23345	broad.mit.edu	37	chr6	152536121	152536121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttgatttccttatcattCaagggtaacctatatccaag	11	16	5	9	0	2	1	2	1	0	0	4	1	4	1	3	1	1	1	3	1	6	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:152536121C>G	ENST00000367255.5	-	122	22867	c.22266G>C	c.(22264-22266)ttG>ttC	p.L7422F	SYNE1_ENST00000356820.4_Missense_Mutation_p.L1946F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7351F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7034F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7422F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7351F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7422					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTATCATTCAAGGGTAACC	0.393										HNSCC(10;0.0054)			37	151					0	0	0	0	G	152536121	C	G	152536121	3	3	494	1	0	0	0	0	1	0	0	0	15536	825	29	2	4300	2	SYNE1	6	152536121	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5815937	152536121	18578946	184	95649											
TULP4	56995	broad.mit.edu	37	chr6	158870040	158870040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgcaggtgctgtttggcAcggccgatgggcaggtgatt	6	11	17	7	2	0	1	0	1	0	0	0	3	0	1	1	5	2	5	1	5	0	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:158870040A>C	ENST00000367097.3	+	4	1913	c.556A>C	c.(556-558)Acg>Ccg	p.T186P	TULP4_ENST00000367094.2_Missense_Mutation_p.T186P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	186					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTGTTTGGCACGGCCGATGG	0.567													14	34					0	0	0	0	C	158870040	A	C	158870040	3	2	494	1	0	0	0	0	1	0	0	0	16872	159	6	5	570	5	TULP4	6	158870040	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	6333919	158870040	12245027	185	95650											
FNDC1	84624	broad.mit.edu	37	chr6	159655423	159655423	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggccacttctccaccacCccgatgctgtccttgcgcca	5	9	7	20	2	1	0	0	0	1	0	3	1	2	0	8	1	2	1	8	1	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:159655423C>A	ENST00000297267.9	+	11	4079	c.3879C>A	c.(3877-3879)acC>acA	p.T1293T	FNDC1_ENST00000340366.6_Silent_p.T1230T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1293						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCTCCACCACCCCGATGCTGT	0.642													12	25					1.49906e-05	1.59078e-05	1	0	A	159655423	C	A	159655423	2	1	494	1	0	0	0	0	0	0	0	1	6013	610	22	4		4	FNDC1	6	159655423	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	785383	159655423	11459644	186	95651											
RPS6KA2	6196	broad.mit.edu	37	chr6	166902391	166902391	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctccccactgaggaactgCggcatccccagcttggctct	6	8	10	17	1	1	1	0	1	1	0	3	2	3	2	5	3	3	3	5	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:166902391C>G	ENST00000510118.1	-	12	1252	c.912G>C	c.(910-912)ccG>ccC	p.P304P	RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000265678.4_Silent_p.P279P|RPS6KA2_ENST00000481261.2_Silent_p.P190P			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	Protein kinase 1.				axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537													11	34					0	0	0	0	G	166902391	C	G	166902391	2	3	494	1	0	0	0	0	0	0	0	1	13736	755	27	3		3	RPS6KA2	6	166902391	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	7246968	166902391	4212676	187	95652											
CCR6	1235	broad.mit.edu	37	chr6	167550377	167550377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttggggcttgagctacTctttggtttctttatccctt	4	19	10	8	0	2	1	0	1	2	0	3	2	3	1	1	3	2	4	1	3	2	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:167550377T>A	ENST00000341935.5	+	3	1211	c.659T>A	c.(658-660)cTc>cAc	p.L220H	CCR6_ENST00000400926.2_Missense_Mutation_p.L220H|CCR6_ENST00000349984.4_Missense_Mutation_p.L220H	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	220					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTTGAGCTACTCTTTGGTTTC	0.448													59	97					0	0	0	0	A	167550377	T	A	167550377	3	1	494	1	0	0	0	0	1	0	0	0	2974	1551	54	5	665	5	CCR6	6	167550377	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	647986	167550377	3564690	188	95653											
DAGLB	221955	broad.mit.edu	37	chr7	6474645	6474645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accactgtggcagcgatgatGatccaactgcaagacagaga	14	6	11	10	1	0	4	0	2	0	2	1	6	1	4	2	1	3	2	2	1	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:6474645G>A	ENST00000297056.6	-	4	595	c.426C>T	c.(424-426)atC>atT	p.I142I	DAGLB_ENST00000428902.2_Silent_p.I15I|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Silent_p.I101I|DAGLB_ENST00000425398.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	142					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAGCGATGATGATCCAACTGC	0.567													21	80					0	0	0	0	A	6474645	G	A	6474645	2	1	494	1	0	0	0	0	0	0	0	1	4260	1280	45	2		2	DAGLB	7	6474645	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08		6474645	152664018	189	95654											
PHF14	9678	broad.mit.edu	37	chr7	11091407	11091407	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagattccgataagaaacacGgtagtttattttttatttat	14	17	6	4	2	0	2	0	0	0	2	1	3	1	2	1	1	1	2	1	1	7	10			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:11091407G>A	ENST00000403050.3	+	14	2933	c.2481_splice	c.e14+1	p.T827_splice	PHF14_ENST00000445996.2_Splice_Site_p.T542_splice	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	827							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAAGAAACACGGTAGTTTATT	0.388													11	32					0	0	0	0	A	11091407	G	A	11091407	5	1	494	1	0	0	0	0	0	0	1	0	11897	1130	39	1	2535	1	PHF14	7	11091407	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4616762	11091407	148047256	190	95655											
TMEM106B	54664	broad.mit.edu	37	chr7	12263945	12263945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctctatcgacgtgaaataCattggtgtaaaatcagccta	13	11	8	9	3	2	1	1	1	1	0	3	2	2	1	1	1	2	2	1	1	6	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:12263945C>T	ENST00000396667.2	+	5	697	c.375C>T	c.(373-375)taC>taT	p.Y125Y	TMEM106B_ENST00000396668.3_Silent_p.Y125Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	125						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACGTGAAATACATTGGTGTAA	0.343													36	148					0	0	0	0	T	12263945	C	T	12263945	2	4	494	1	0	0	0	0	0	0	0	1	16115	489	17	4		4	TMEM106B	7	12263945	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1172538	12263945	146874718	191	95656											
ETV1	2115	broad.mit.edu	37	chr7	13935563	13935563	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtaggccatgctctcAtcaaagtgagaaagaggcac	13	7	12	9	0	2	2	2	1	1	2	3	3	2	2	1	3	1	4	1	3	3	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:13935563A>G	ENST00000343495.5	-	13	2046	c.1308T>C	c.(1306-1308)gaT>gaC	p.D436D	ETV1_ENST00000430479.1_Silent_p.D454D|ETV1_ENST00000420159.2_Silent_p.D396D|ETV1_ENST00000405218.2_Silent_p.D454D|ETV1_ENST00000399357.3_Silent_p.D351D|ETV1_ENST00000242066.5_Silent_p.D436D|ETV1_ENST00000405192.2_Silent_p.D431D|ETV1_ENST00000403527.1_Silent_p.D414D|ETV1_ENST00000403685.1_Silent_p.D436D|ETV1_ENST00000405358.4_Silent_p.D468D			P50549	ETV1_HUMAN	ets variant 1	454					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCATGCTCTCATCAAAGTGAG	0.517			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								9	32					0	0	0	0	G	13935563	A	G	13935563	2	3	494	1	0	0	0	0	0	0	0	1	5315	214	8	5		5	ETV1	7	13935563	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	1671618	13935563	145203100	192	95657											
HDAC9	9734	broad.mit.edu	37	chr7	18788697	18788697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccacccaccctgagcAtgctggacgaatacagagta	12	7	8	14	1	0	2	0	1	0	1	1	4	1	3	4	1	3	3	4	1	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:18788697A>G	ENST00000406451.3	+	14	2120	c.1970A>G	c.(1969-1971)cAt>cGt	p.H657R	HDAC9_ENST00000432645.2_Missense_Mutation_p.H657R|HDAC9_ENST00000441542.2_Missense_Mutation_p.H660R|HDAC9_ENST00000401921.1_Missense_Mutation_p.H616R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	657	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACCCTGAGCATGCTGGACGA	0.443													6	34					0	0	0	0	G	18788697	A	G	18788697	3	3	494	1	0	0	0	0	1	0	0	0	7064	217	8	5	2080	5	HDAC9	7	18788697	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	4853134	18788697	140349966	193	95658											
ITGB8	3696	broad.mit.edu	37	chr7	20431047	20431047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacccctcactaggccaaCtttcagagaaattaatagac	16	8	5	12	0	2	2	2	0	0	2	2	3	2	2	3	1	2	0	3	1	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:20431047C>G	ENST00000222573.3	+	7	1666	c.982C>G	c.(982-984)Ctt>Gtt	p.L328V	ITGB8_ENST00000537992.1_Missense_Mutation_p.L193V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	328	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTAGGCCAACTTTCAGAGAA	0.299													23	75					0	0	0	0	G	20431047	C	G	20431047	3	3	494	1	0	0	0	0	1	0	0	0	7954	565	20	4	1008	4	ITGB8	7	20431047	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1642350	20431047	138707616	194	95659											
TRIL	9865	broad.mit.edu	37	chr7	28996795	28996795	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcagttggcagctggcTcagccgattaccctccaggc	7	7	12	15	2	1	0	1	0	0	0	2	1	2	0	3	3	4	5	3	3	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:28996795T>G	ENST00000322982.3	-	0	1139							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GGCAGCTGGCTCAGCCGATTA	0.692													4	10					0	0	0	0	G	28996795	T	G	28996795	1	3	494	0	1	0	0	0	0	0	0	0	16580	1551	54	5		5	TRIL	7	28996795	RNA	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	8565748	28996795	130141868	195	95660											
CHN2	1124	broad.mit.edu	37	chr7	29440442	29440442	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaacacacagcggtggaaAaggtgagctgtgtgtgatgg	13	7	16	5	1	0	3	0	2	0	1	0	4	0	4	0	4	3	1	0	4	4	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:29440442A>G	ENST00000222792.6	+	6	1104	c.574A>G	c.(574-576)Aag>Gag	p.K192E	CHN2_ENST00000546235.1_Missense_Mutation_p.K177E|CHN2_ENST00000539406.1_Missense_Mutation_p.K267E|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.K205E	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGCGGTGGAAAAGGTGAGCTG	0.458													18	41					0	0	0	0	G	29440442	A	G	29440442	3	3	494	1	0	0	0	0	1	0	0	0	3392	15	1	5	596	5	CHN2	7	29440442	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	443647	29440442	129698221	196	95661											
ADCY1	107	broad.mit.edu	37	chr7	45750141	45750141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctaggcatcaatgttggcCctgtggtggctggagtgatt	6	14	14	7	0	2	1	1	1	1	0	2	2	2	2	1	5	0	3	1	5	2	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:45750141C>T	ENST00000297323.7	+	19	2969	c.2947C>T	c.(2947-2949)Cct>Tct	p.P983S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	983					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAATGTTGGCCCTGTGGTGGC	0.582													20	69					0	0	0	0	T	45750141	C	T	45750141	3	4	494	1	0	0	0	0	1	0	0	0	292	623	22	4	3021	4	ADCY1	7	45750141	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	16309699	45750141	113388522	197	95662											
ZPBP	11055	broad.mit.edu	37	chr7	50132758	50132758	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgggtccgccgcctgccCcgccgcgctgggccaagggc	2	3	16	20	6	0	0	0	0	0	0	1	0	1	0	8	3	1	1	8	3	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:50132758C>A	ENST00000046087.2	-	1	102	c.33G>T	c.(31-33)cgG>cgT	p.R11R	ZPBP_ENST00000419417.1_Silent_p.R11R	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	11					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					gccgcctgccccgccgcgcTG	0.736													3	6					0.115264	0.116221	1	0	A	50132758	C	A	50132758	2	1	494	1	0	0	0	0	0	0	0	1	18312	610	22	4		4	ZPBP	7	50132758	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4382617	50132758	109005905	198	95663											
COBL	23242	broad.mit.edu	37	chr7	51095532	51095532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttcttcggcccaaaaatGctgggtggccaaatactgtc	9	13	9	10	1	1	0	0	0	1	0	3	0	1	0	2	3	2	1	2	3	4	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51095532G>C	ENST00000395542.2	-	12	3691	c.3507C>G	c.(3505-3507)agC>agG	p.S1169R	COBL_ENST00000265136.7_Missense_Mutation_p.S1087R			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1087	WH2 2.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCCAAAAATGCTGGGTGGCC	0.493													58	136					0	0	0	0	C	51095532	G	C	51095532	3	2	494	1	0	0	0	0	1	0	0	0	3683	1310	46	4	540	4	COBL	7	51095532	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	962774	51095532	108043131	199	95664											
COBL	23242	broad.mit.edu	37	chr7	51096987	51096987	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccgacgtcatgggaagcGgggtgcagggcaggtacttc	7	9	16	9	3	1	0	1	0	0	0	3	2	2	1	1	5	3	3	1	5	2	3	rs149617160		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51096987G>T	ENST00000395542.2	-	12	2236	c.2052C>A	c.(2050-2052)ccC>ccA	p.P684P	COBL_ENST00000265136.7_Silent_p.P602P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	602										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATGGGAAGCGGGGTGCAGGG	0.557													26	68					7.92952e-12	8.96317e-12	1	0	T	51096987	G	T	51096987	2	4	494	1	0	0	0	0	0	0	0	1	3683	1103	39	3		3	COBL	7	51096987	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1455	51096987	108041676	200	95665											
COBL	23242	broad.mit.edu	37	chr7	51258761	51258761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcaggtaattcacgacCaaacgcacagatttctggaa	13	8	9	11	3	2	1	1	0	1	1	3	3	3	2	2	2	1	3	2	2	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51258761C>A	ENST00000395542.2	-	4	655	c.471G>T	c.(469-471)ttG>ttT	p.L157F	COBL_ENST00000441453.1_Missense_Mutation_p.L157F|COBL_ENST00000265136.7_Missense_Mutation_p.L157F|COBL_ENST00000395540.2_Missense_Mutation_p.L157F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	157										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATTCACGACCAAACGCACAG	0.453													13	25					4.3838e-07	4.71803e-07	1	0	A	51258761	C	A	51258761	3	1	494	1	0	0	0	0	1	0	0	0	3683	593	21	4	3354	4	COBL	7	51258761	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	161774	51258761	107879902	201	95666											
ZNF716	441234	broad.mit.edu	37	chr7	57528729	57528729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaaacatttcaaatgtAaaaacgatggcaaatcattt	20	10	6	5	1	2	1	2	0	0	1	2	3	2	1	0	1	2	2	0	1	7	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:57528729A>G	ENST00000420713.1	+	4	674	c.562A>G	c.(562-564)Aaa>Gaa	p.K188E		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTCAAATGTAAAAACGATGG	0.333													13	29					0	0	0	0	G	57528729	A	G	57528729	3	3	494	1	0	0	0	0	1	0	0	0	18214	363	13	5	576	5	ZNF716	7	57528729	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	6269968	57528729	101609934	202	95667											
AUTS2	26053	broad.mit.edu	37	chr7	70255264	70255264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacccggggcccctggcctCgatgcccatgacggtggggg	4	5	17	15	3	0	1	0	1	0	0	1	2	0	1	5	6	1	1	5	6	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:70255264C>T	ENST00000342771.4	+	19	3383	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	AUTS2_ENST00000406775.2_Missense_Mutation_p.S997L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1021										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTGGCCTCGATGCCCATG	0.682													9	24					0	0	0	0	T	70255264	C	T	70255264	3	4	494	1	0	0	0	0	1	0	0	0	1229	893	31	1	3281	1	AUTS2	7	70255264	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	12726535	70255264	88883399	203	95668											
NSUN5	55695	broad.mit.edu	37	chr7	72721457	72721457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caactacatcatcggagcagGtcttgagagtgttcacacgc	11	9	10	11	2	3	1	2	1	1	1	4	3	3	2	0	2	3	2	0	2	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:72721457G>A	ENST00000428206.1	-	4	333	c.320C>T	c.(319-321)aCc>aTc	p.T107I	NSUN5_ENST00000252594.6_Missense_Mutation_p.T145I|NSUN5_ENST00000310326.8_Missense_Mutation_p.T145I|NSUN5_ENST00000438747.2_Missense_Mutation_p.T145I	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	145							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				ATCGGAGCAGGTCTTGAGAGT	0.542													32	96					0	0	0	0	A	72721457	G	A	72721457	3	1	494	1	0	0	0	0	1	0	0	0	10752	1261	44	4	1015	4	NSUN5	7	72721457	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2466193	72721457	86417206	204	95669											
PCLO	27445	broad.mit.edu	37	chr7	82579967	82579967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttatactggtagatctgccGaatcttttgctcctccagct	7	15	8	11	1	2	1	0	0	2	1	4	2	4	1	3	1	4	4	3	1	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:82579967G>A	ENST00000423517.2	-	6	10274	c.9937C>T	c.(9937-9939)Cgg>Tgg	p.R3313W	PCLO_ENST00000437081.1_Missense_Mutation_p.R33W|PCLO_ENST00000333891.8_Missense_Mutation_p.R3313W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3244					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGATCTGCCGAATCTTTTGC	0.493													30	109					0	0	0	0	A	82579967	G	A	82579967	3	1	494	1	0	0	0	0	1	0	0	0	11654	1057	37	1	5588	1	PCLO	7	82579967	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	9858510	82579967	76558696	205	95670											
AKAP9	10142	broad.mit.edu	37	chr7	91682141	91682141	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacagagctgtcacaaCgacttgtgaggagtggtttt	12	10	13	6	1	1	2	1	1	0	1	1	5	1	4	0	3	3	2	0	3	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:91682141C>T	ENST00000359028.2	+	23	5731	c.5506C>T	c.(5506-5508)Cga>Tga	p.R1836*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R1824*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R1836*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1836					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGTCACAACGACTTGTGAG	0.403			T	BRAF	papillary thyroid								23	53					0	0	0	0	T	91682141	C	T	91682141	4	4	494	1	0	0	0	0	0	1	0	0	459	528	19	1	5556	1	AKAP9	7	91682141	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9102174	91682141	67456522	206	95671											
AKAP9	10142	broad.mit.edu	37	chr7	91729012	91729012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttccagcccagcttggtGtccccaagtacttcttgtgg	5	15	9	12	0	1	0	0	0	1	0	3	0	3	0	4	2	3	2	4	2	2	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:91729012G>A	ENST00000359028.2	+	44	10962	c.10737G>A	c.(10735-10737)gtG>gtA	p.V3579V	AKAP9_ENST00000356239.3_Silent_p.V3575V|AKAP9_ENST00000358100.2_Silent_p.V3525V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3579					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAGCTTGGTGTCCCCAAGTA	0.418			T	BRAF	papillary thyroid								52	167					0	0	0	0	A	91729012	G	A	91729012	2	1	494	1	0	0	0	0	0	0	0	1	459	1364	48	4		4	AKAP9	7	91729012	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	46871	91729012	67409651	207	95672											
SAMD9	54809	broad.mit.edu	37	chr7	92733305	92733305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttttgacaaaaggtgaAgaataactttcagaagagaa	17	10	8	6	0	1	5	1	2	0	3	2	6	2	5	1	1	1	0	1	1	7	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:92733305A>G	ENST00000379958.2	-	3	2375	c.2106T>C	c.(2104-2106)tcT>tcC	p.S702S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	702						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAAAGGTGAAGAATAACTTT	0.343													55	217					0	0	0	0	G	92733305	A	G	92733305	2	3	494	1	0	0	0	0	0	0	0	1	13911	59	3	5		5	SAMD9	7	92733305	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	1004293	92733305	66405358	208	95673											
COL1A2	1278	broad.mit.edu	37	chr7	94038683	94038683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgctggtcccgccggtcCccgtggtgaagtgggtcttc	2	11	14	14	3	1	1	0	1	1	0	5	1	4	1	5	4	1	1	5	4	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:94038683C>G	ENST00000297268.6	+	17	1313	c.842C>G	c.(841-843)cCc>cGc	p.P281R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	281					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCGCCGGTCCCCGTGGTGAA	0.483										HNSCC(75;0.22)			44	72					0	0	0	0	G	94038683	C	G	94038683	3	3	494	1	0	0	0	0	1	0	0	0	3708	623	22	4	908	4	COL1A2	7	94038683	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1305378	94038683	65099980	209	95674											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540144	94540144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcccttgaatttaccatCtgttactgttacaaatcttg	10	18	4	9	0	2	1	0	1	2	0	3	1	3	1	2	0	3	2	2	0	6	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:94540144C>A	ENST00000289495.5	+	1	935	c.719C>A	c.(718-720)tCt>tAt	p.S240Y	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S240Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	240						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AATTTACCATCTGTTACTGTT	0.423										HNSCC(28;0.073)			11	47					0.000978159	0.00100805	1	0	A	94540144	C	A	94540144	3	1	494	1	0	0	0	0	1	0	0	0	12454	913	32	2	721	2	PPP1R9A	7	94540144	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	501461	94540144	64598519	210	95675											
SLC12A9	56996	broad.mit.edu	37	chr7	100451982	100451982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtccatgttcagcataGttgtttttctgaggattggt	6	18	10	7	0	2	1	1	1	1	0	4	2	4	2	2	2	1	4	2	2	1	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:100451982G>T	ENST00000354161.3	+	2	288	c.163G>T	c.(163-165)Gtt>Ttt	p.V55F	SLC12A9_ENST00000275729.3_Missense_Mutation_p.V55F|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000415287.1_Missense_Mutation_p.V55F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	55						integral to membrane|plasma membrane	cation:chloride symporter activity			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)					GTTCAGCATAGTTGTTTTTCT	0.602													14	34					1.99824e-07	2.16208e-07	1	0	T	100451982	G	T	100451982	3	4	494	1	0	0	0	0	1	0	0	0	14478	1029	36	4	165	4	SLC12A9	7	100451982	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5911838	100451982	58686681	211	95676											
MUC17	140453	broad.mit.edu	37	chr7	100678797	100678797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttgacaacagcacacCtgtgaccacttctactgaag	11	10	7	13	0	1	3	0	3	1	0	2	3	2	3	3	0	3	2	3	0	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:100678797C>A	ENST00000306151.4	+	3	4164	c.4100C>A	c.(4099-4101)cCt>cAt	p.P1367H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1367	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAGCACACCTGTGACCACT	0.458													147	394					5.68993e-56	7.41157e-56	1	0	A	100678797	C	A	100678797	3	1	494	1	0	0	0	0	1	0	0	0	10044	681	24	4	4110	4	MUC17	7	100678797	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	226815	100678797	58459866	212	95677											
CDHR3	222256	broad.mit.edu	37	chr7	105664941	105664941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtctcctcgtgtacctgGtcgtcctattggccaaagcc	5	12	11	13	2	1	0	0	0	1	0	5	0	2	0	5	3	2	1	5	3	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:105664941G>A	ENST00000542731.1	+	15	2299	c.2191G>A	c.(2191-2193)Gtc>Atc	p.V731I	CDHR3_ENST00000478080.1_Missense_Mutation_p.V643I|CDHR3_ENST00000343407.5_Missense_Mutation_p.G233D|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.V731I			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	731					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CGTGTACCTGGTCGTCCTATT	0.537													4	49					0	0	0	0	A	105664941	G	A	105664941	3	1	494	1	0	0	0	0	1	0	0	0	3149	1261	44	4	2249	4	CDHR3	7	105664941	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4986144	105664941	53473722	213	95678											
PIK3CG	5294	broad.mit.edu	37	chr7	106508853	106508853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgggatgagtacctggtgGgcgaaacgcccatcaaaaac	12	5	13	11	3	1	1	1	1	0	0	1	3	1	2	3	3	3	1	3	3	4	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:106508853G>T	ENST00000359195.3	+	2	1157	c.847G>T	c.(847-849)Ggc>Tgc	p.G283C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.G283C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G283C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	283					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			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						GTACCTGGTGGGCGAAACGCC	0.547													22	35					5.26018e-13	6.02439e-13	1	0	T	106508853	G	T	106508853	3	4	494	1	0	0	0	0	1	0	0	0	11988	1232	43	4	849	4	PIK3CG	7	106508853	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	843912	106508853	52629810	214	95679											
COG5	10466	broad.mit.edu	37	chr7	106964929	106964929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaagtgcctgagtaactGaattccaaaatgtgtagaaa	18	9	9	5	0	0	4	0	2	0	2	1	4	1	4	2	0	2	2	2	0	8	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:106964929G>A	ENST00000393603.2	-	11	1428	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	COG5_ENST00000347053.3_Missense_Mutation_p.S386L|COG5_ENST00000297135.3_Missense_Mutation_p.S386L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	386					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTGAGTAACTGAATTCCAAAA	0.244													16	89					0	0	0	0	A	106964929	G	A	106964929	3	1	494	1	0	0	0	0	1	0	0	0	3691	1294	45	2	1477	2	COG5	7	106964929	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	456076	106964929	52173734	215	95680											
NRCAM	4897	broad.mit.edu	37	chr7	107820812	107820813	+	Frame_Shift_Ins	INS	-	-	T																															tgccttggaaggtgaggatcINStttttctcaatgtgacgtct																								rs139634064		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:107820812_107820813insT	ENST00000379028.3	-	25	3175_3176	c.2705_2706insA	c.(2704-2706)aatfs	p.N902fs	NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.N886fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000425651.2_Frame_Shift_Ins_p.N902fs			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	902	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGTGAGGATCTTTTTCTCAAT	0.47													26	58	---	---	---	---					T	107820813	-	T	107820812	7	5	494	1	0	1	1	0	0	0	0	0	10715	912	32	0	1274	0	NRCAM	7	107820812	Frame_Shift_Ins	INS	-	TCGA-UF-A71D-01A-12D-A34J-08	855883	107820812	51317851	216	95681											
GRM8	2918	broad.mit.edu	37	chr7	126173740	126173740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataagctggcagcctgtgcGgttcatgttgggtctctgat	6	13	14	8	1	2	1	1	1	1	0	3	2	2	1	1	3	3	4	1	3	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:126173740G>T	ENST00000339582.2	-	9	2504	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S	GRM8_ENST00000444921.2_Missense_Mutation_p.R566S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R566S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	566					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R566S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAGCCTGTGCGGTTCATGTTG	0.532										HNSCC(24;0.065)			22	72					7.92952e-12	8.96317e-12	1	0	T	126173740	G	T	126173740	3	4	494	1	0	0	0	0	1	0	0	0	6853	1116	39	3	1092	3	GRM8	7	126173740	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	18352928	126173740	32964923	217	95682											
OR2F2	135948	broad.mit.edu	37	chr7	143633082	143633082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtggttgccctgtgctacGgcacaacgattttcacttac	7	12	10	12	3	1	0	1	0	0	0	1	1	1	0	1	3	5	3	1	3	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:143633082G>T	ENST00000408955.2	+	1	824	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCTGTGCTACGGCACAACGAT	0.512													46	74					1.61004e-24	2.02758e-24	1	0	T	143633082	G	T	143633082	3	4	494	1	0	0	0	0	1	0	0	0	11068	1116	39	3	759	3	OR2F2	7	143633082	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	17459342	143633082	15505581	218	95683											
CUL1	8454	broad.mit.edu	37	chr7	148485671	148485671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttgcgggttcgagtacaCctctaaacttcagcgcatgt	9	11	10	11	3	2	0	1	0	1	0	3	1	2	0	1	1	5	4	1	1	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:148485671C>T	ENST00000325222.4	+	14	1781	c.1502C>T	c.(1501-1503)aCc>aTc	p.T501I	CUL1_ENST00000602748.1_Missense_Mutation_p.T501I|CUL1_ENST00000409469.1_Missense_Mutation_p.T501I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	501					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCGAGTACACCTCTAAACTT	0.408													47	177					0	0	0	0	T	148485671	C	T	148485671	3	4	494	1	0	0	0	0	1	0	0	0	4086	507	18	4	1552	4	CUL1	7	148485671	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4852589	148485671	10652992	219	95684											
SSPO	23145	broad.mit.edu	37	chr7	149519621	149519621	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgtgtgtggagcagcTggagcagctggacgcgctgc	7	7	19	8	2	0	0	0	0	0	0	0	4	0	4	0	4	5	5	0	4	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149519621T>A	ENST00000378016.2	+	0	13111							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGAGCAGCTGGAGCAGCTG	0.721													12	23					0	0	0	0	A	149519621	T	A	149519621	1	1	494	0	1	0	0	0	0	0	0	0	15279	1580	55	5		5	SSPO	7	149519621	RNA	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	1033950	149519621	9619042	220	95685											
ZNF862	643641	broad.mit.edu	37	chr7	149558815	149558815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcatctacaggcctctgtccGaggtgtgccagaaggagatc	9	8	13	11	1	2	2	0	0	2	2	4	4	3	2	3	3	2	1	3	3	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149558815G>C	ENST00000223210.4	+	7	2811	c.2566G>C	c.(2566-2568)Gag>Cag	p.E856Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	856					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCTCTGTCCGAGGTGTGCCA	0.607													15	19					0	0	0	0	C	149558815	G	C	149558815	3	2	494	1	0	0	0	0	1	0	0	0	18288	1059	37	3	2592	3	ZNF862	7	149558815	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	39194	149558815	9579848	221	95686											
ZNF862	643641	broad.mit.edu	37	chr7	149558848	149558848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagatcgtgctgattacaGaggtgaacgccacgctgggc	10	7	15	9	3	0	4	0	2	0	2	1	5	0	4	1	3	3	2	1	3	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149558848G>C	ENST00000223210.4	+	7	2844	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	867					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCTGATTACAGAGGTGAACGC	0.582													14	25					0	0	0	0	C	149558848	G	C	149558848	3	2	494	1	0	0	0	0	1	0	0	0	18288	943	33	2	2625	2	ZNF862	7	149558848	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	33	149558848	9579815	222	95687											
DPP6	1804	broad.mit.edu	37	chr7	154519500	154519500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatttttgaaaacaatatCtactactgtgcacatgtcgg	12	16	6	7	1	1	1	0	1	1	0	2	1	1	1	0	1	4	1	0	1	7	7	rs61736428		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:154519500C>G	ENST00000404039.1	+	8	1181	c.594C>G	c.(592-594)atC>atG	p.I198M	DPP6_ENST00000332007.3_Missense_Mutation_p.I200M|DPP6_ENST00000427557.1_Missense_Mutation_p.I155M|DPP6_ENST00000377770.3_Missense_Mutation_p.I262M	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	262					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AAAACAATATCTACTACTGTG	0.373													13	33					0	0	0	0	G	154519500	C	G	154519500	3	3	494	1	0	0	0	0	1	0	0	0	4766	903	32	2	932	2	DPP6	7	154519500	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4960652	154519500	4619163	223	95688											
PTPRN2	5799	broad.mit.edu	37	chr7	157414145	157414145	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgcctggtaggcgcacagCgcttcccactccttctccag	5	9	9	18	3	1	0	0	0	1	0	5	0	4	0	5	2	1	3	5	2	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:157414145C>T	ENST00000389413.3	-	14	2269	c.2166G>A	c.(2164-2166)gcG>gcA	p.A722A	PTPRN2_ENST00000404321.2_Silent_p.A774A|PTPRN2_ENST00000389416.4_Silent_p.A734A|PTPRN2_ENST00000389418.4_Silent_p.A751A|PTPRN2_ENST00000409483.1_Silent_p.A713A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	751						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGCGCACAGCGCTTCCCACT	0.617													7	318					0	0	0	0	T	157414145	C	T	157414145	2	4	494	1	0	0	0	0	0	0	0	1	12890	755	27	1		1	PTPRN2	7	157414145	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2894645	157414145	1724518	224	95689											
WDR60	55112	broad.mit.edu	37	chr7	158704263	158704263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgaagtacaaaactgcttCggctcattgacttagatttt	11	14	8	8	2	1	2	1	1	0	1	2	3	1	2	0	1	4	3	0	1	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:158704263C>T	ENST00000407559.3	+	12	1641	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	495										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAACTGCTTCGGCTCATTGA	0.333													24	65					0	0	0	0	T	158704263	C	T	158704263	3	4	494	1	0	0	0	0	1	0	0	0	17407	875	31	1	1529	1	WDR60	7	158704263	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1290118	158704263	434400	225	95690											
PSD3	23362	broad.mit.edu	37	chr8	18393461	18393461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacatacatttcatagCgggttttctgaaggcaaagc	11	12	10	8	1	2	2	1	2	1	0	2	2	2	2	0	2	4	3	0	2	4	5	rs148881242		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:18393461C>A	ENST00000440756.2	-	16	3044	c.2942G>T	c.(2941-2943)cGc>cTc	p.R981L	PSD3_ENST00000327040.8_Missense_Mutation_p.R979L|PSD3_ENST00000286485.8_Missense_Mutation_p.R445L|PSD3_ENST00000428502.2_Missense_Mutation_p.R308L|PSD3_ENST00000523619.1_Missense_Mutation_p.R914L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	980					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CATTTCATAGCGGGTTTTCTG	0.478													32	67					2.81731e-10	3.13207e-10	1	0	A	18393461	C	A	18393461	3	1	494	1	0	0	0	0	1	0	0	0	12727	768	27	3	211	3	PSD3	8	18393461	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		18393461	127970561	226	95691											
PSD3	23362	broad.mit.edu	37	chr8	18656828	18656828	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatgtagatcggtattaaGaagcattattgcacaggtaa	14	11	10	6	1	0	2	0	0	0	2	1	2	0	2	1	2	2	5	1	2	6	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:18656828G>C	ENST00000440756.2	-	8	2161	c.2059C>G	c.(2059-2061)Ctt>Gtt	p.L687V	PSD3_ENST00000327040.8_Missense_Mutation_p.L687V|PSD3_ENST00000286485.8_Missense_Mutation_p.L153V|PSD3_ENST00000523619.1_Missense_Mutation_p.L622V			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	687	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCGGTATTAAGAAGCATTATT	0.363													27	77					0	0	0	0	C	18656828	G	C	18656828	3	2	494	1	0	0	0	0	1	0	0	0	12727	942	33	2	1120	2	PSD3	8	18656828	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	263367	18656828	127707194	227	95692											
INTS9	55756	broad.mit.edu	37	chr8	28633341	28633341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgagaacctcagcccgccGataggacatggcggggggct	8	4	17	12	4	1	1	1	0	0	1	1	4	1	2	3	6	2	1	3	6	2	1	rs146865172		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:28633341G>A	ENST00000416984.2	-	13	1794	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	INTS9_ENST00000521777.1_Missense_Mutation_p.R476W|INTS9_ENST00000397363.4_Missense_Mutation_p.R394W|INTS9_ENST00000521022.1_Missense_Mutation_p.R500W	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	500					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCAGCCCGCCGATAGGACATG	0.602													7	53					0	0	0	0	A	28633341	G	A	28633341	3	1	494	1	0	0	0	0	1	0	0	0	7838	1057	37	1	494	1	INTS9	8	28633341	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	9976513	28633341	117730681	228	95693											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730229	37730229	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgtcgccctgtttcAggctgctctgggagagactc	4	13	11	13	1	3	1	1	0	2	1	6	3	4	2	2	2	1	3	2	2	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:37730229A>C	ENST00000330843.4	-	4	2103	c.2091T>G	c.(2089-2091)ccT>ccG	p.P697P	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	697					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCCTGTTTCAGGCTGCTCTG	0.522													26	88					0	0	0	0	C	37730229	A	C	37730229	2	2	494	1	0	0	0	0	0	0	0	1	12975	175	7	5		5	RAB11FIP1	8	37730229	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	9096888	37730229	108633793	229	95694											
IDO1	3620	broad.mit.edu	37	chr8	39775664	39775664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcacagcgccttgcacgtCtagttctgggatgcatcacc	8	10	10	13	2	4	0	2	0	2	0	4	1	4	1	2	1	3	3	2	1	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:39775664C>G	ENST00000518237.1	+	3	880	c.241C>G	c.(241-243)Cta>Gta	p.L81V	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.L81V|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	81					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CCTTGCACGTCTAGTTCTGGG	0.428													17	153					0	0	0	0	G	39775664	C	G	39775664	3	3	494	1	0	0	0	0	1	0	0	0	7554	912	32	2	251	2	IDO1	8	39775664	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2045435	39775664	106588358	230	95695											
OPRK1	4986	broad.mit.edu	37	chr8	54142365	54142365	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcatctgggaactgcAaggagcactcaatgacatcg	13	8	10	10	1	4	1	3	1	1	0	5	3	4	3	0	2	3	2	0	2	3	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:54142365A>T	ENST00000265572.3	-	4	932	c.635T>A	c.(634-636)tTg>tAg	p.L212*	OPRK1_ENST00000524278.1_Nonsense_Mutation_p.L123*|OPRK1_ENST00000520287.1_Nonsense_Mutation_p.L212*|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	212					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGGGAACTGCAAGGAGCACTC	0.458													11	34					0	0	0	0	T	54142365	A	T	54142365	4	4	494	1	0	0	0	0	0	1	0	0	10956	131	5	5	511	5	OPRK1	8	54142365	Nonsense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	14366701	54142365	92221657	231	95696											
RGS20	8601	broad.mit.edu	37	chr8	54791898	54791898	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctagcccgctttccagcctCgcaaggttcttctctcacct	5	13	6	17	2	4	0	1	0	3	0	7	0	5	0	4	1	2	3	4	1	2	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:54791898C>G	ENST00000297313.3	+	2	338	c.246C>G	c.(244-246)ctC>ctG	p.L82L	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	82					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TTTCCAGCCTCGCAAGGTTCT	0.701													44	125					0	0	0	0	G	54791898	C	G	54791898	2	3	494	1	0	0	0	0	0	0	0	1	13386	871	31	3		3	RGS20	8	54791898	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	649533	54791898	91572124	232	95697											
LYN	4067	broad.mit.edu	37	chr8	56866481	56866481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taaagatgcctgggagatccCccgggagtccatcaagttgg	10	8	13	10	1	1	2	1	0	0	2	3	4	3	3	4	3	1	1	4	3	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:56866481C>A	ENST00000520220.2	+	8	939	c.665C>A	c.(664-666)cCc>cAc	p.P222H	LYN_ENST00000519728.1_Missense_Mutation_p.P243H	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	243	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGGGAGATCCCCCGGGAGTCC	0.522													47	62					2.56175e-15	2.99611e-15	1	0	A	56866481	C	A	56866481	3	1	494	1	0	0	0	0	1	0	0	0	9172	623	22	4	754	4	LYN	8	56866481	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2074583	56866481	89497541	233	95698											
FAM110B	90362	broad.mit.edu	37	chr8	59058805	59058805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgcccacggagaccCtacagacaggtagcatggtg	11	5	11	14	1	0	2	0	0	0	2	0	3	0	2	4	3	3	2	4	3	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:59058805C>G	ENST00000361488.3	+	5	896	c.16C>G	c.(16-18)Cta>Gta	p.L6V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	6						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CACGGAGACCCTACAGACAGG	0.627													5	25					0	0	0	0	G	59058805	C	G	59058805	3	3	494	1	0	0	0	0	1	0	0	0	5438	680	24	4	18	4	FAM110B	8	59058805	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2192324	59058805	87305217	234	95699											
KCNB2	9312	broad.mit.edu	37	chr8	73479875	73479875	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgattgttgctttcttccAgctttgtcagtggaaatgcc	7	16	10	8	0	2	1	1	1	1	0	3	2	3	2	2	1	3	3	2	1	1	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:73479875A>G	ENST00000523207.1	+	2	495		c.e2-1			NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2						regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTTTCTTCCAGCTTTGTCAG	0.428													14	20					0	0	0	0	G	73479875	A	G	73479875	5	3	494	1	0	0	0	0	0	0	1	0	8066	202	7	5		5	KCNB2	8	73479875	Splice_Site	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	14421070	73479875	72884147	235	95700											
KCNB2	9312	broad.mit.edu	37	chr8	73848457	73848457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacggagtccaacaagagCgtgctgcagttccaaaacgt	12	7	11	11	3	0	2	0	1	0	1	2	3	2	3	2	1	5	3	2	1	4	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:73848457C>T	ENST00000523207.1	+	3	1455	c.867C>T	c.(865-867)agC>agT	p.S289S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	289					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAACAAGAGCGTGCTGCAGT	0.502													46	74					0	0	0	0	T	73848457	C	T	73848457	2	4	494	1	0	0	0	0	0	0	0	1	8066	767	27	1		1	KCNB2	8	73848457	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	368582	73848457	72515565	236	95701											
ZFHX4	79776	broad.mit.edu	37	chr8	77764100	77764100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcaacagccctggccaggGgatgttagattccatgagtt	9	11	12	9	0	1	2	1	1	0	1	2	3	2	3	3	3	2	2	3	3	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:77764100G>C	ENST00000521891.2	+	10	5391	c.4943G>C	c.(4942-4944)gGg>gCg	p.G1648A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1622A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1603A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1603A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1603	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTGGCCAGGGGATGTTAGAT	0.473										HNSCC(33;0.089)			25	59					0	0	0	0	C	77764100	G	C	77764100	3	2	494	1	0	0	0	0	1	0	0	0	17730	1232	43	4	4977	4	ZFHX4	8	77764100	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3915643	77764100	68599922	237	95702											
ZFHX4	79776	broad.mit.edu	37	chr8	77766624	77766624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaacagtctacctccacaGttactacaataccaatgtga	15	9	5	12	0	1	2	0	1	1	1	2	2	2	2	3	0	5	1	3	0	7	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:77766624G>T	ENST00000521891.2	+	10	7915	c.7467G>T	c.(7465-7467)caG>caT	p.Q2489H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2463H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2444H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2444H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2444						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACCTCCACAGTTACTACAAT	0.502										HNSCC(33;0.089)			33	60					4.3181e-19	5.24217e-19	1	0	T	77766624	G	T	77766624	3	4	494	1	0	0	0	0	1	0	0	0	17730	1020	36	4	7501	4	ZFHX4	8	77766624	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2524	77766624	68597398	238	95703											
CA2	760	broad.mit.edu	37	chr8	86388068	86388068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagaaagttgttgatgtGctggattccattaaaacaaa	14	13	8	6	0	1	2	1	1	0	1	2	3	2	3	1	1	2	3	1	1	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:86388068G>A	ENST00000285379.5	+	5	716	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	162					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TTGTTGATGTGCTGGATTCCA	0.373													21	54					0	0	0	0	A	86388068	G	A	86388068	2	1	494	1	0	0	0	0	0	0	0	1	2541	1306	46	4		4	CA2	8	86388068	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	8621444	86388068	59975954	239	95704											
RUNX1T1	862	broad.mit.edu	37	chr8	93003933	93003933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggagtccctgtagtggtGggcaatggccatatcatcca	10	10	12	9	0	1	0	1	0	0	0	3	1	3	1	3	4	0	2	3	4	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:93003933G>T	ENST00000523629.1	-	7	1379	c.925C>A	c.(925-927)Cac>Aac	p.H309N	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H282N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H272N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H282N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H272N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H272N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H309N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H320N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	309					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H272N(1)|p.H320N(1)|p.H309N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGTAGTGGTGGGCAATGGCC	0.542													36	118					4.65686e-17	5.52093e-17	1	0	T	93003933	G	T	93003933	3	4	494	1	0	0	0	0	1	0	0	0	13832	1348	47	4	913	4	RUNX1T1	8	93003933	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6615865	93003933	53360089	240	95705											
VPS13B	157680	broad.mit.edu	37	chr8	100287351	100287351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcccttgcttcagggtcCttctgacactaaagaccttc	8	13	7	13	0	2	2	1	1	1	1	5	3	4	2	3	1	1	1	3	1	2	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:100287351C>G	ENST00000395996.1	+	19	2804	c.2693C>G	c.(2692-2694)cCt>cGt	p.P898R	VPS13B_ENST00000358544.2_Missense_Mutation_p.P898R|VPS13B_ENST00000357162.2_Missense_Mutation_p.P898R			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	898					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTCAGGGTCCTTCTGACACT	0.373													28	65					0	0	0	0	G	100287351	C	G	100287351	3	3	494	1	0	0	0	0	1	0	0	0	17286	681	24	4	2886	4	VPS13B	8	100287351	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	7283418	100287351	46076671	241	95706											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477430	110477430	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggctggctttcgctGggaacatgaaatggtaatga	13	9	13	6	1	0	2	0	2	0	0	1	4	0	3	0	4	2	4	0	4	5	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:110477430G>A	ENST00000378402.5	+	49	8473	c.8369G>A	c.(8368-8370)tGg>tAg	p.W2790*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2790					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCTTTCGCTGGGAACATGAA	0.393										HNSCC(38;0.096)			38	51					0	0	0	0	A	110477430	G	A	110477430	4	1	494	1	0	0	0	0	0	1	0	0	12044	1357	47	4	8563	4	PKHD1L1	8	110477430	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	10190079	110477430	35886592	242	95707											
SYBU	55638	broad.mit.edu	37	chr8	110587665	110587665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaccacgtcggtctgaaCggctcgctccaccaccacac	8	5	10	18	4	1	1	0	1	1	0	4	1	2	1	4	3	1	3	4	3	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:110587665C>T	ENST00000399066.3	-	6	2180	c.1453G>A	c.(1453-1455)Gtt>Att	p.V485I	SYBU_ENST00000440310.1_Missense_Mutation_p.V488I|SYBU_ENST00000424158.2_Missense_Mutation_p.V493I|SYBU_ENST00000533895.1_Missense_Mutation_p.V487I|SYBU_ENST00000433638.1_Missense_Mutation_p.V488I|SYBU_ENST00000422135.1_Missense_Mutation_p.V488I|SYBU_ENST00000408908.2_Missense_Mutation_p.V488I|SYBU_ENST00000528647.1_Missense_Mutation_p.V487I|SYBU_ENST00000533065.1_Missense_Mutation_p.V369I|SYBU_ENST00000529175.1_Missense_Mutation_p.V282I|SYBU_ENST00000446070.2_Missense_Mutation_p.V487I|SYBU_ENST00000532779.1_Missense_Mutation_p.V420I|SYBU_ENST00000529690.1_Missense_Mutation_p.V358I|SYBU_ENST00000408889.3_Missense_Mutation_p.V369I|SYBU_ENST00000419099.1_Missense_Mutation_p.V487I|SYBU_ENST00000528331.1_Missense_Mutation_p.V369I|SYBU_ENST00000276646.9_Missense_Mutation_p.V488I|SYBU_ENST00000533171.1_Missense_Mutation_p.V488I	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	488						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCGGTCTGAACGGCTCGCTCC	0.627													11	64					0	0	0	0	T	110587665	C	T	110587665	3	4	494	1	0	0	0	0	1	0	0	0	15517	536	19	1	533	1	SYBU	8	110587665	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	110235	110587665	35776357	243	95708											
CSMD3	114788	broad.mit.edu	37	chr8	113259258	113259258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatacttacgtatgcattCaggctgaatcccactccacg	12	11	6	12	2	1	1	1	1	0	0	3	1	3	1	2	1	3	3	2	1	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:113259258C>T	ENST00000297405.5	-	64	10457	c.10213G>A	c.(10213-10215)Gaa>Aaa	p.E3405K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E3236K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3365K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3335K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3405	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTATGCATTCAGGCTGAATC	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	30					0	0	0	0	T	113259258	C	T	113259258	3	4	494	1	0	0	0	0	1	0	0	0	3978	835	29	2	942	2	CSMD3	8	113259258	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2671593	113259258	33104764	244	95709											
CSMD3	114788	broad.mit.edu	37	chr8	113694742	113694742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatgtaattgtttctgttCcctgggttttaataaatcct	9	19	6	7	0	1	0	0	0	1	0	3	0	3	0	2	1	1	4	2	1	5	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:113694742C>A	ENST00000297405.5	-	16	2850	c.2606G>T	c.(2605-2607)gGa>gTa	p.G869V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G765V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G829V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G869V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	869	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTTCTGTTCCCTGGGTTTT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	112					3.45872e-05	3.64486e-05	1	0	A	113694742	C	A	113694742	3	1	494	1	0	0	0	0	1	0	0	0	3978	855	30	2	8741	2	CSMD3	8	113694742	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	435484	113694742	32669280	245	95710											
MTBP	27085	broad.mit.edu	37	chr8	121463247	121463247	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttttattttcaagcctgTtcagtgggaggtatacctgg	7	16	12	6	0	2	0	2	0	0	0	2	1	2	1	2	4	2	3	2	4	4	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:121463247T>G	ENST00000305949.1	+	3	249	c.204T>G	c.(202-204)tgT>tgG	p.C68W		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	68					cell cycle arrest					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)			TTCAAGCCTGTTCAGTGGGAG	0.333													11	119					0	0	0	0	G	121463247	T	G	121463247	3	3	494	1	0	0	0	0	1	0	0	0	9982	1731	60	5	214	5	MTBP	8	121463247	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	7768505	121463247	24900775	246	95711											
ZHX1	11244	broad.mit.edu	37	chr8	124266826	124266826	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccaatgcagtttcatgtTtgacactttgagaagttgga	11	15	9	6	0	1	2	1	2	0	1	1	4	1	3	1	1	2	4	1	1	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124266826T>A	ENST00000395571.3	-	3	1978	c.1361A>T	c.(1360-1362)aAa>aTa	p.K454I	ZHX1_ENST00000522655.1_Missense_Mutation_p.K454I|ZHX1_ENST00000297857.2_Missense_Mutation_p.K454I|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	454	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTTTCATGTTTGACACTTTG	0.403													83	340					0	0	0	0	A	124266826	T	A	124266826	3	1	494	1	0	0	0	0	1	0	0	0	17770	1841	64	5	1264	5	ZHX1	8	124266826	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	2803579	124266826	22097196	247	95712											
ZHX1	11244	broad.mit.edu	37	chr8	124268127	124268127	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatatcaactcaaggtcTggatcttgttcactggcaag	10	13	9	9	0	6	1	3	1	3	0	6	2	6	2	0	3	1	2	0	3	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124268127T>A	ENST00000395571.3	-	3	677	c.60A>T	c.(58-60)ccA>ccT	p.P20P	ZHX1_ENST00000522655.1_Silent_p.P20P|ZHX1_ENST00000297857.2_Silent_p.P20P|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'UTR	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	20					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCAAGGTCTGGATCTTGTT	0.438													53	209					0	0	0	0	A	124268127	T	A	124268127	2	1	494	1	0	0	0	0	0	0	0	1	17770	1567	55	5		5	ZHX1	8	124268127	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	1301	124268127	22095895	248	95713											
FAM91A1	157769	broad.mit.edu	37	chr8	124817558	124817558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatgtcccatttccatttGatgaaacagaactacaagga	14	11	6	10	0	0	3	0	2	0	1	3	4	3	4	3	1	3	0	3	1	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124817558G>C	ENST00000334705.7	+	19	2107	c.1861G>C	c.(1861-1863)Gat>Cat	p.D621H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.D621H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	621										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATTTCCATTTGATGAAACAGA	0.343													14	54					0	0	0	0	C	124817558	G	C	124817558	3	2	494	1	0	0	0	0	1	0	0	0	5696	1290	45	2	1935	2	FAM91A1	8	124817558	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	549431	124817558	21546464	249	95714											
POU5F1B	5462	broad.mit.edu	37	chr8	128428308	128428308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcccccttgccccccgcCgtatgagttatgtgggggga	5	10	13	13	2	0	1	0	1	0	0	1	3	1	2	6	3	1	2	6	3	2	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:128428308C>T	ENST00000465342.2	+	2	1354	c.197C>T	c.(196-198)cCg>cTg	p.P66L	POU5F1B_ENST00000391675.1_Missense_Mutation_p.P66L|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TGCCCCCCGCCGTATGAGTTA	0.657													5	25					0	0	0	0	T	128428308	C	T	128428308	3	4	494	1	0	0	0	0	1	0	0	0	12353	652	23	1	199	1	POU5F1B	8	128428308	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3610750	128428308	17935714	250	95715											
OC90	729330	broad.mit.edu	37	chr8	133053850	133053850	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaagtctcgggggcagAgaccagccacacacttcata	12	7	9	13	1	3	1	2	0	1	1	4	2	3	1	2	2	1	1	2	2	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:133053850A>T	ENST00000262283.5	-	8	953	c.854T>A	c.(853-855)cTc>cAc	p.L285H	OC90_ENST00000443356.2_Missense_Mutation_p.L89H|OC90_ENST00000254627.3_Missense_Mutation_p.L89H|OC90_ENST00000603859.1_Missense_Mutation_p.L89H			Q02509	OC90_HUMAN	otoconin 90	89					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCGGGGGCAGAGACCAGCCAC	0.527													52	42					0	0	0	0	T	133053850	A	T	133053850	3	4	494	1	0	0	0	0	1	0	0	0	10885	304	11	5	1207	5	OC90	8	133053850	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	4625542	133053850	13310172	251	95716											
FAM135B	51059	broad.mit.edu	37	chr8	139165436	139165436	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcactggaacatcaaaatTaggataaacactcaagttat	17	11	6	7	0	3	0	3	0	0	0	3	2	3	2	0	2	2	1	0	2	8	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:139165436T>A	ENST00000395297.1	-	13	1452	c.1282A>T	c.(1282-1284)Aat>Tat	p.N428Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	428										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)			ACATCAAAATTAGGATAAACA	0.299										HNSCC(54;0.14)			25	77					0	0	0	0	A	139165436	T	A	139165436	3	1	494	1	0	0	0	0	1	0	0	0	5490	1754	61	5	2970	5	FAM135B	8	139165436	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	6111586	139165436	7198586	252	95717											
FAM135B	51059	broad.mit.edu	37	chr8	139180165	139180165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcagtccacgtatctgtCctcaaagatcaccggcaggg	10	7	12	12	2	3	1	2	0	1	1	5	1	5	1	3	3	0	3	3	3	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:139180165C>A	ENST00000395297.1	-	12	1401	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	411										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)			ACGTATCTGTCCTCAAAGATC	0.532										HNSCC(54;0.14)			31	158					8.16721e-17	9.66373e-17	1	0	A	139180165	C	A	139180165	3	1	494	1	0	0	0	0	1	0	0	0	5490	855	30	2	3025	2	FAM135B	8	139180165	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	14729	139180165	7183857	253	95718											
FBXL6	26233	broad.mit.edu	37	chr8	145581347	145581347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgccttgaccccgccCttggcaggccggccgaccag	4	7	11	19	4	1	1	0	1	1	0	2	2	1	1	8	3	0	1	8	3	0	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:145581347C>A	ENST00000331890.5	-	2	580	c.516G>T	c.(514-516)aaG>aaT	p.K172N	FBXL6_ENST00000455319.2_Missense_Mutation_p.K172N	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	172					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGACCCCGCCCTTGGCAGGCC	0.692													4	21					0.00909568	0.00927912	1	0	A	145581347	C	A	145581347	3	1	494	1	0	0	0	0	1	0	0	0	5768	680	24	4	1135	4	FBXL6	8	145581347	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6401182	145581347	782675	254	95719											
UBE2R2	54926	broad.mit.edu	37	chr9	33912052	33912053	+	Frame_Shift_Del	DEL	GA	GA	-																															tcagttatgttcaggaaatgGagagacagtaaaggaaaaga																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:33912052_33912053delGA	ENST00000263228.3	+	4	644_645	c.453_454delGA	c.(451-456)tggafs	p.WR151fs		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	151					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TCAGGAAATGGAGAGACAGTAA	0.351													13	337	---	---	---	---					-	33912053	GA	-	33912052	7	5	494	1	0	1	0	1	0	0	0	0	16967	1183	41	0	467	0	UBE2R2	9	33912052	Frame_Shift_Del	DEL	GA	TCGA-UF-A71D-01A-12D-A34J-08		33912052	107301379	255	95720											
KIF24	347240	broad.mit.edu	37	chr9	34256863	34256866	+	Frame_Shift_Del	DEL	CTTA	CTTA	-																															ctgctccagtccacgggcccCttacttgggctgcagctgtg																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:34256863_34256866delCTTA	ENST00000379166.2	-	11	2858_2861	c.2739_2742delTAAG	c.(2737-2742)agfs	p.SK913fs	KIF24_ENST00000379174.3_Frame_Shift_Del_p.SK779fs|KIF24_ENST00000402558.2_Frame_Shift_Del_p.SK913fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.SK779fs	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	913					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCACGGGCCCCTTACTTGGGCTGC	0.529													32	357	---	---	---	---					-	34256866	CTTA	-	34256863	7	5	494	1	0	1	0	1	0	0	0	0	8343	680	24	0	1376	0	KIF24	9	34256863	Frame_Shift_Del	DEL	CTTA	TCGA-UF-A71D-01A-12D-A34J-08	344811	34256863	106956568	256	95721											
C9orf131	138724	broad.mit.edu	37	chr9	35043713	35043725	+	Frame_Shift_Del	DEL	GCTATATCTAAGG	GCTATATCTAAGG	-																															ttagccctgaaggaggacttGctatatctaaggacttctgg																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:35043713_35043725delGCTATATCTAAGG	ENST00000312292.5	+	2	1134_1146	c.1087_1099delGCTATATCTAAGG	c.(1087-1101)acfs	p.AISKD363fs	C9orf131_ENST00000421362.2_Frame_Shift_Del_p.AISKD315fs|C9orf131_ENST00000354479.5_Frame_Shift_Del_p.AISKD290fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	363										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGAGGACTTGCTATATCTAAGGACTTCTGGGG	0.545													31	913	---	---	---	---					-	35043725	GCTATATCTAAGG	-	35043713	7	5	494	1	0	1	0	1	0	0	0	0	2482	1319	46	0	1109	0	C9orf131	9	35043713	Frame_Shift_Del	DEL	GCTATATCTAAGG	TCGA-UF-A71D-01A-12D-A34J-08	786850	35043713	106169718	257	95722											
RUSC2	9853	broad.mit.edu	37	chr9	35548376	35548376	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtccaccctggtccaccCaggtctgtcagggaccccac	8	6	9	18	0	2	0	1	0	1	0	4	1	4	1	6	3	0	0	6	3	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:35548376C>T	ENST00000455600.1	+	2	2427	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	620						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGTCCACCCAGGTCTGTCA	0.632													8	130					0	0	0	0	T	35548376	C	T	35548376	4	4	494	1	0	0	0	0	0	1	0	0	13836	595	21	4	1860	4	RUSC2	9	35548376	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	504663	35548376	105665055	258	95723											
RECK	8434	broad.mit.edu	37	chr9	36083381	36083381	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggctcggtttgttgcagTtatgcaggtcatcacacaaa	9	12	12	8	1	2	0	2	0	0	0	3	0	2	0	0	3	2	6	0	3	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:36083381T>C	ENST00000377966.3	+	8	1025	c.459T>C	c.(457-459)agT>agC	p.S153S	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	153	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTTGTTGCAGTTATGCAGGTC	0.388													55	413					0	0	0	0	C	36083381	T	C	36083381	2	2	494	1	0	0	0	0	0	0	0	1	13282	1722	60	5		5	RECK	9	36083381	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	535005	36083381	105130050	259	95724											
RNF38	152006	broad.mit.edu	37	chr9	36375984	36375984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccctgagaagtgatgttgGcttggtcgaactgaaggggg	8	10	16	7	1	0	3	0	3	0	1	2	5	1	3	2	4	1	2	2	4	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:36375984G>A	ENST00000357058.3	-	3	660	c.54C>T	c.(52-54)agC>agT	p.S18S	RNF38_ENST00000377885.2_Silent_p.S18S|RNF38_ENST00000259605.6_Silent_p.S101S|RNF38_ENST00000350199.4_Silent_p.S18S|RNF38_ENST00000353739.4_Silent_p.S51S|RNF38_ENST00000377877.4_5'UTR|RNF38_ENST00000491349.1_5'UTR	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	101							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			AGTGATGTTGGCTTGGTCGAA	0.443													14	107					0	0	0	0	A	36375984	G	A	36375984	2	1	494	1	0	0	0	0	0	0	0	1	13575	1194	42	4		4	RNF38	9	36375984	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	292603	36375984	104837447	260	95725											
FRMPD1	22844	broad.mit.edu	37	chr9	37744409	37744409	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagatgtttctactgcaGaacccagtgccacaagcttg	11	9	9	12	0	1	2	0	0	1	2	1	3	1	2	3	0	5	3	3	0	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:37744409G>T	ENST00000539465.1	+	16	2973	c.2380G>T	c.(2380-2382)Gaa>Taa	p.E794*	FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E794*|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	794						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCTACTGCAGAACCCAGTGC	0.507													50	352					2.17126e-26	2.74574e-26	1	0	T	37744409	G	T	37744409	4	4	494	1	0	0	0	0	0	1	0	0	6105	943	33	2	2438	2	FRMPD1	9	37744409	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1368425	37744409	103469022	261	95726											
TMEM2	23670	broad.mit.edu	37	chr9	74313120	74313120	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgagatacaaaaacagtaaCctgcacaaaacagaaaccaa	22	5	5	9	0	0	2	0	1	0	2	0	3	0	2	2	0	6	2	2	0	8	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:74313120C>T	ENST00000377044.4	-	20	3917	c.3377_splice	c.e20-1	p.G1126_splice	TMEM2_ENST00000396272.3_Splice_Site_p.G119_splice|TMEM2_ENST00000377066.5_Splice_Site_p.G1063_splice	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1126						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AAAACAGTAACCTGCACAAAA	0.408													19	90					0	0	0	0	T	74313120	C	T	74313120	5	4	494	1	0	0	0	0	0	0	1	0	16215	521	18	4	793	4	TMEM2	9	74313120	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	36568711	74313120	66900311	262	95727											
FOXB2	442425	broad.mit.edu	37	chr9	79635352	79635352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccgccgcggccgcggCgtccacgtcaggcttcaagc	4	5	14	18	8	2	0	2	0	0	0	3	0	3	0	4	3	2	2	4	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:79635352C>G	ENST00000376708.1	+	1	782	c.782C>G	c.(781-783)gCg>gGg	p.A261G		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	261	Poly-Ala.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						gcggccgcGGCGTCCACGTCA	0.721													12	36					0	0	0	0	G	79635352	C	G	79635352	3	3	494	1	0	0	0	0	1	0	0	0	6038	768	27	3	784	3	FOXB2	9	79635352	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5322232	79635352	61578079	263	95728											
TLE1	7088	broad.mit.edu	37	chr9	84208113	84208113	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcatgccgggggattcCgggtccgatgagggcgtcgg	5	6	20	10	6	0	1	0	1	0	0	3	4	2	2	3	5	2	1	3	5	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:84208113C>A	ENST00000376499.3	-	15	2472	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	470					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGGGGGATTCCGGGTCCGATG	0.592													52	107					1.42923e-14	1.65878e-14	1	0	A	84208113	C	A	84208113	4	1	494	1	0	0	0	0	0	1	0	0	16032	661	23	3	928	3	TLE1	9	84208113	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4572761	84208113	57005318	264	95729											
DIRAS2	54769	broad.mit.edu	37	chr9	93375519	93375519	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagggccttcacatgatCacgcacttgcctttgagctt	9	11	10	11	1	2	2	2	2	0	0	2	3	2	3	2	2	2	2	2	2	1	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:93375519C>A	ENST00000375765.3	-	2	979	c.591G>T	c.(589-591)gtG>gtT	p.V197V		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	197					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTCACATGATCACGCACTTGC	0.557													20	64					1.96292e-10	2.18623e-10	1	0	A	93375519	C	A	93375519	2	1	494	1	0	0	0	0	0	0	0	1	4568	813	29	2		2	DIRAS2	9	93375519	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9167406	93375519	47837912	265	95730											
SYK	6850	broad.mit.edu	37	chr9	93650814	93650814	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggggatgaaaggaagtgaAgtcaccgctatgttagagaa	15	8	14	4	1	1	3	1	2	0	1	1	6	1	5	1	3	0	2	1	3	7	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:93650814A>T	ENST00000375754.4	+	13	1888	c.1740A>T	c.(1738-1740)gaA>gaT	p.E580D	SYK_ENST00000375751.4_Missense_Mutation_p.E557D|SYK_ENST00000375746.1_Missense_Mutation_p.E580D|SYK_ENST00000375747.1_Missense_Mutation_p.E557D	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	580	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGGAAGTGAAGTCACCGCTA	0.438			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								5	20					0	0	0	0	T	93650814	A	T	93650814	3	4	494	1	0	0	0	0	1	0	0	0	15529	69	3	5	1786	5	SYK	9	93650814	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	275295	93650814	47562617	266	95731											
TMEFF1	8577	broad.mit.edu	37	chr9	103271366	103271366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcagaagggctgcttGtaagcaccagaaagagataa	14	9	10	8	0	1	3	1	0	1	3	2	4	1	3	1	1	2	4	1	1	4	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:103271366G>A	ENST00000374879.4	+	3	818	c.386G>A	c.(385-387)tGt>tAt	p.C129Y	MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.L92L|TMEFF1_ENST00000334943.6_Missense_Mutation_p.C90Y	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AGGGCTGCTTGTAAGCACCAG	0.358													19	82					0	0	0	0	A	103271366	G	A	103271366	3	1	494	1	0	0	0	0	1	0	0	0	16107	1377	48	4	396	4	TMEFF1	9	103271366	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	9620552	103271366	37942065	267	95732											
SMC2	10592	broad.mit.edu	37	chr9	106900386	106900386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggtagatgcagccttGgatctttctcatacccaaaa	12	11	9	9	0	2	2	1	1	2	1	3	4	2	3	2	2	3	2	2	2	4	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:106900386G>T	ENST00000286398.7	+	24	3645	c.3357G>T	c.(3355-3357)ttG>ttT	p.L1119F	SMC2_ENST00000374787.3_Missense_Mutation_p.L1119F|SMC2_ENST00000374793.3_Missense_Mutation_p.L1119F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1119	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATGCAGCCTTGGATCTTTCTC	0.388													48	74					6.68952e-21	8.26994e-21	1	0	T	106900386	G	T	106900386	3	4	494	1	0	0	0	0	1	0	0	0	14871	1339	47	4	3447	4	SMC2	9	106900386	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3629020	106900386	34313045	268	95733											
OR13C9	286362	broad.mit.edu	37	chr9	107379976	107379976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatgattgatgacattcttCctgcagaaaggcaattgtac	14	12	8	7	0	1	4	0	3	1	1	2	4	2	4	1	1	2	3	1	1	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:107379976C>T	ENST00000259362.1	-	1	509	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R170R(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGACATTCTTCCTGCAGAAAG	0.448													38	109					0	0	0	0	T	107379976	C	T	107379976	2	4	494	1	0	0	0	0	0	0	0	1	11010	854	30	2		2	OR13C9	9	107379976	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	479590	107379976	33833455	269	95734											
MUSK	4593	broad.mit.edu	37	chr9	113547130	113547130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcctcaaagccaagtgtgGacattccaaatctgccttcc	10	10	7	14	1	2	0	1	0	1	0	5	1	5	1	5	1	2	0	5	1	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:113547130G>T	ENST00000416899.2	+	10	1522	c.1396G>T	c.(1396-1398)Gac>Tac	p.D466Y	MUSK_ENST00000374448.4_Missense_Mutation_p.D474Y|MUSK_ENST00000189978.5_Missense_Mutation_p.D474Y|MUSK_ENST00000374438.1_Intron			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	474					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCCAAGTGTGGACATTCCAAA	0.373													41	62					4.67007e-22	5.8448e-22	1	0	T	113547130	G	T	113547130	3	4	494	1	0	0	0	0	1	0	0	0	10059	1174	41	2	1498	2	MUSK	9	113547130	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6167154	113547130	27666301	270	95735											
ASTN2	23245	broad.mit.edu	37	chr9	119202989	119202989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcatcgaggctgagacCtccatcagtgtgttgtaggc	10	9	12	10	1	1	1	1	1	0	1	3	3	2	1	2	2	2	4	2	2	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:119202989C>A	ENST00000313400.4	-	22	3781	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	ASTN2_ENST00000373996.3_Missense_Mutation_p.E1223D|ASTN2_ENST00000288520.5_Missense_Mutation_p.E328D|ASTN2_ENST00000361477.3_Missense_Mutation_p.E279D|ASTN2_ENST00000361209.2_Missense_Mutation_p.E1176D|ASTN2_ENST00000341734.4_Missense_Mutation_p.E279D			O75129	ASTN2_HUMAN	astrotactin 2	1227						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGCTGAGACCTCCATCAGTG	0.512													44	95					2.37825e-27	3.02641e-27	1	0	A	119202989	C	A	119202989	3	1	494	1	0	0	0	0	1	0	0	0	1069	680	24	4	387	4	ASTN2	9	119202989	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5655859	119202989	22010442	271	95736											
PDCL	5082	broad.mit.edu	37	chr9	125588917	125588917	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttaactgagatgccttcGcctgccagctcagcctctgc	6	11	10	14	1	2	1	1	1	1	1	3	2	2	1	4	0	6	2	4	0	1	2	rs111903667	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:125588917G>T	ENST00000259467.4	-	2	315	c.150C>A	c.(148-150)ggC>ggA	p.G50G		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	50					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						AGATGCCTTCGCCTGCCAGCT	0.473													18	53					3.41278e-10	3.78713e-10	1	0	T	125588917	G	T	125588917	2	4	494	1	0	0	0	0	0	0	0	1	11697	1074	38	3		3	PDCL	9	125588917	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6385928	125588917	15624514	272	95737											
DENND1A	57706	broad.mit.edu	37	chr9	126214562	126214562	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccagtacttacgaacttgTagacagtcttcatggccgga	11	10	10	10	2	2	1	1	0	1	1	2	4	2	2	2	2	3	2	2	2	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:126214562T>A	ENST00000373624.2	-	17	1493	c.1292A>T	c.(1291-1293)tAc>tTc	p.Y431F	DENND1A_ENST00000373620.3_Missense_Mutation_p.Y431F|DENND1A_ENST00000373618.1_Missense_Mutation_p.Y399F|DENND1A_ENST00000542603.1_Missense_Mutation_p.Y173F|DENND1A_ENST00000394215.2_Missense_Mutation_p.Y401F|DENND1A_ENST00000394219.3_Missense_Mutation_p.Y399F|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	431						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TACGAACTTGTAGACAGTCTT	0.383													30	78					0	0	0	0	A	126214562	T	A	126214562	3	1	494	1	0	0	0	0	1	0	0	0	4463	1638	57	5	1868	5	DENND1A	9	126214562	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	625645	126214562	14998869	273	95738											
SH2D3C	10044	broad.mit.edu	37	chr9	130504178	130504178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagcgctgcccgctcCtccgcagagccggtgcagcc	5	5	13	18	4	0	1	0	0	0	1	2	1	2	1	5	1	7	6	5	1	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:130504178C>A	ENST00000314830.8	-	9	2090	c.1977G>T	c.(1975-1977)gaG>gaT	p.E659D	SH2D3C_ENST00000373276.3_Missense_Mutation_p.E591D|SH2D3C_ENST00000373274.3_Missense_Mutation_p.E499D|SH2D3C_ENST00000373277.4_Missense_Mutation_p.E502D|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E501D|SH2D3C_ENST00000429553.1_Missense_Mutation_p.E305D	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	659	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCCCGCTCCTCCGCAGAGC	0.682													16	29					1.3612e-06	1.45211e-06	1	0	A	130504178	C	A	130504178	3	1	494	1	0	0	0	0	1	0	0	0	14321	680	24	4	621	4	SH2D3C	9	130504178	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4289616	130504178	10709253	274	95739											
CRAT	1384	broad.mit.edu	37	chr9	131860427	131860427	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcacatgcctgtccgtagatCctggtgggaaatggggctaa	9	9	14	9	1	0	1	0	0	0	1	2	2	2	2	3	4	1	3	3	4	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:131860427C>T	ENST00000318080.2	-	11	1623	c.1328_splice	c.e11-1	p.R443_splice	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	443					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTCCGTAGATCCTGGTGGGAA	0.652													41	139					0	0	0	0	T	131860427	C	T	131860427	5	4	494	1	0	0	0	0	0	0	1	0	3877	869	30	2	567	2	CRAT	9	131860427	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1356249	131860427	9353004	275	95740											
ASS1	445	broad.mit.edu	37	chr9	133333932	133333932	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacaagtggaaatcgccCagcgggagggggccaagtat	13	4	15	9	2	0	0	0	0	0	0	1	2	0	2	2	4	2	2	2	4	5	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:133333932C>T	ENST00000372394.1	+	5	800	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	ASS1_ENST00000352480.5_Nonsense_Mutation_p.Q107*|ASS1_ENST00000372393.3_Nonsense_Mutation_p.Q107*			P00966	ASSY_HUMAN	argininosuccinate synthase 1	107					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGAAATCGCCCAGCGGGAGGG	0.662													11	32					0	0	0	0	T	133333932	C	T	133333932	4	4	494	1	0	0	0	0	0	1	0	0	1065	595	21	4	329	4	ASS1	9	133333932	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1473505	133333932	7879499	276	95741											
ABL1	25	broad.mit.edu	37	chr9	133760374	133760374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctcaaacctgccccGccgcccccaccagcagcctc	7	4	7	23	2	1	0	1	0	0	0	3	0	2	0	9	1	4	2	9	1	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:133760374G>A	ENST00000318560.5	+	11	3078	c.2697G>A	c.(2695-2697)ccG>ccA	p.P899P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	899	DNA-binding (By similarity).|Poly-Pro.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AACCTGCCCCGCCGCCCCCAC	0.677			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								6	15					0	0	0	0	A	133760374	G	A	133760374	2	1	494	1	0	0	0	0	0	0	0	1	92	1074	38	1		1	ABL1	9	133760374	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	426442	133760374	7453057	277	95742											
SLC2A6	11182	broad.mit.edu	37	chr9	136343499	136343499	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaattgccgagcactgcGgcgaaggtggccaggaacac	11	5	14	11	3	0	1	0	1	0	0	0	4	0	2	2	4	4	1	2	4	3	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:136343499G>C	ENST00000371899.4	-	2	209	c.132C>G	c.(130-132)gcC>gcG	p.A44A	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.A44A	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	44						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGAGCACTGCGGCGAAGGTGG	0.587													67	159					0	0	0	0	C	136343499	G	C	136343499	2	2	494	1	0	0	0	0	0	0	0	1	14637	1103	39	3		3	SLC2A6	9	136343499	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2583125	136343499	4869932	278	95743											
DBH	1621	broad.mit.edu	37	chr9	136501617	136501617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcactgcagggctcggctCcccgtgagagccccctcccc	4	5	11	21	3	0	1	0	1	0	1	3	2	2	1	7	2	2	4	7	2	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:136501617C>A	ENST00000393056.2	+	1	136	c.124C>A	c.(124-126)Ccc>Acc	p.P42T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	42					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGGCTCGGCTCCCCGTGAGAG	0.652													19	32					2.4624e-09	2.69797e-09	1	0	A	136501617	C	A	136501617	3	1	494	1	0	0	0	0	1	0	0	0	4283	855	30	2	126	2	DBH	9	136501617	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	158118	136501617	4711814	279	95744											
PRKCQ	5588	broad.mit.edu	37	chr10	6525468	6525468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatttttagtttaatctgCagagatggtctttctttgtt	8	21	7	5	0	4	1	1	0	3	1	4	2	4	1	0	1	1	3	0	1	3	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:6525468C>T	ENST00000263125.5	-	11	1212	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	PRKCQ_ENST00000539722.1_Silent_p.L246L|PRKCQ_ENST00000397176.2_Silent_p.L371L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	371					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GTTTAATCTGCAGAGATGGTC	0.433													40	140					0	0	0	0	T	6525468	C	T	6525468	2	4	494	1	0	0	0	0	0	0	0	1	12595	697	25	4		4	PRKCQ	10	6525468	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		6525468	129009279	280	95745											
VIM	7431	broad.mit.edu	37	chr10	17276720	17276720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgaggctgccaaccGgaacaatgacgccctgcgcc	8	6	10	17	3	1	2	0	2	1	0	2	3	1	3	5	2	4	1	5	2	3	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:17276720G>A	ENST00000544301.1	+	6	1324	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	VIM_ENST00000224237.5_Missense_Mutation_p.R304Q|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	304	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGCCAACCGGAACAATGAC	0.488													100	87					0	0	0	0	A	17276720	G	A	17276720	3	1	494	1	0	0	0	0	1	0	0	0	17262	1116	39	1	929	1	VIM	10	17276720	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	10751252	17276720	118258027	281	95746											
NEBL	10529	broad.mit.edu	37	chr10	21141477	21141477	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgggcaagtgtgtacctgActttggaggacggcattgcc	8	10	14	9	2	0	1	0	1	0	0	0	3	0	3	2	4	3	3	2	4	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:21141477A>T	ENST00000377122.4	-	10	1401	c.1005T>A	c.(1003-1005)agT>agA	p.S335R	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	335					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGTACCTGACTTTGGAGGA	0.498													87	64					0	0	0	0	T	21141477	A	T	21141477	3	4	494	1	0	0	0	0	1	0	0	0	10373	272	10	5	2115	5	NEBL	10	21141477	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	3864757	21141477	114393270	282	95747											
SPAG6	9576	broad.mit.edu	37	chr10	22700008	22700008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactttttgtaacaagtggtGgccttaaaaaagttcaagag	14	12	10	5	0	1	1	1	0	0	1	1	2	1	1	1	2	1	2	1	2	6	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:22700008G>A	ENST00000376603.2	+	10	1733	c.1591G>A	c.(1591-1593)Ggc>Agc	p.G531S	SPAG6_ENST00000490361.1_3'UTR|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.G455S|SPAG6_ENST00000538630.1_Missense_Mutation_p.G430S|SPAG6_ENST00000376601.1_Missense_Mutation_p.G216S			O75602	SPAG6_HUMAN	sperm associated antigen 6	455					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AACAAGTGGTGGCCTTAAAAA	0.398													11	89					0	0	0	0	A	22700008	G	A	22700008	3	1	494	1	0	0	0	0	1	0	0	0	15072	1348	47	4	1401	4	SPAG6	10	22700008	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1558531	22700008	112834739	283	95748											
RBP3	5949	broad.mit.edu	37	chr10	48385935	48385935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgggtgagcagctcacCgtccccaaacatgtcaaacc	11	6	9	15	1	2	1	2	1	0	0	3	2	3	1	5	1	4	2	5	1	2	0	rs140160521		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:48385935C>T	ENST00000224600.4	-	2	3270	c.3157G>A	c.(3157-3159)Ggt>Agt	p.G1053S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1053	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCAGCTCACCGTCCCCAAAC	0.517													26	122					0	0	0	0	T	48385935	C	T	48385935	3	4	494	1	0	0	0	0	1	0	0	0	13239	652	23	1	598	1	RBP3	10	48385935	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	25685927	48385935	87148812	284	95749											
PCDH15	65217	broad.mit.edu	37	chr10	55700686	55700686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaatggcagcagcagaaaTtacaccaaccatggtccctt	14	9	7	11	0	0	1	0	0	0	1	1	1	1	1	3	2	4	3	3	2	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:55700686T>C	ENST00000373965.2	-	25	3587	c.3193A>G	c.(3193-3195)Att>Gtt	p.I1065V	PCDH15_ENST00000414778.1_Missense_Mutation_p.I1063V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I987V|PCDH15_ENST00000409834.1_Missense_Mutation_p.I669V|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1058V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1036V|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1021V|PCDH15_ENST00000395438.1_Missense_Mutation_p.I1058V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1058V|PCDH15_ENST00000395445.1_Missense_Mutation_p.I1065V|PCDH15_ENST00000320301.6_Missense_Mutation_p.I1058V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1058	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			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)				GCAGCAGAAATTACACCAACC	0.373										HNSCC(58;0.16)			27	42					0	0	0	0	C	55700686	T	C	55700686	3	2	494	1	0	0	0	0	1	0	0	0	11582	1493	52	5	4354	5	PCDH15	10	55700686	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	7314751	55700686	79834061	285	95750											
PCDH15	65217	broad.mit.edu	37	chr10	55996636	55996636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggcggttgaatattcCggtcctgatcaatggcttgg	7	13	13	8	2	1	3	1	3	0	0	3	3	3	3	2	5	0	2	2	5	3	4	rs61731390		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:55996636C>G	ENST00000373965.2	-	9	1326	c.932G>C	c.(931-933)cGg>cCg	p.R311P	PCDH15_ENST00000414778.1_Missense_Mutation_p.R316P|PCDH15_ENST00000395446.1_Missense_Mutation_p.R311P|PCDH15_ENST00000437009.1_Missense_Mutation_p.R311P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395442.1_Missense_Mutation_p.R311P|PCDH15_ENST00000373957.3_Missense_Mutation_p.R289P|PCDH15_ENST00000395433.1_Missense_Mutation_p.R289P|PCDH15_ENST00000373955.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395432.2_Missense_Mutation_p.R274P|PCDH15_ENST00000395438.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395440.1_Missense_Mutation_p.R311P|PCDH15_ENST00000361849.3_Missense_Mutation_p.R311P|PCDH15_ENST00000395445.1_Missense_Mutation_p.R311P|PCDH15_ENST00000320301.6_Missense_Mutation_p.R311P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	311	Cadherin 3.				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.R311Q(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)				TTGAATATTCCGGTCCTGATC	0.378										HNSCC(58;0.16)			52	114					0	0	0	0	G	55996636	C	G	55996636	3	3	494	1	0	0	0	0	1	0	0	0	11582	652	23	3	6679	3	PCDH15	10	55996636	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	295950	55996636	79538111	286	95751											
RTKN2	219790	broad.mit.edu	37	chr10	63983025	63983025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaatagacagattatgggtCttgaaactatcctcagcact	13	13	7	8	0	2	3	1	1	1	2	3	3	3	3	1	1	2	1	1	1	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:63983025C>G	ENST00000373789.3	-	7	849	c.753G>C	c.(751-753)aaG>aaC	p.K251N	RTKN2_ENST00000315289.2_Missense_Mutation_p.K32N|RTKN2_ENST00000395265.1_Missense_Mutation_p.K251N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	251					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GATTATGGGTCTTGAAACTAT	0.303													39	167					0	0	0	0	G	63983025	C	G	63983025	3	3	494	1	0	0	0	0	1	0	0	0	13808	912	32	2	1100	2	RTKN2	10	63983025	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	7986389	63983025	71551722	287	95752											
HK1	3098	broad.mit.edu	37	chr10	71103586	71103586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcatccccctccagattGacaagtatctctatgccatg	9	13	5	14	0	2	2	1	1	2	1	6	2	4	2	4	0	1	1	4	0	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:71103586G>A	ENST00000448642.2	+	7	561	c.172G>A	c.(172-174)Gac>Aac	p.D58N	HK1_ENST00000359426.6_Missense_Mutation_p.D23N|HK1_ENST00000404387.2_Missense_Mutation_p.D27N|HK1_ENST00000360289.2_Missense_Mutation_p.D11N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.D22N			P19367	HXK1_HUMAN	hexokinase 1	23	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			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						CCTCCAGATTGACAAGTATCT	0.542													46	202					0	0	0	0	A	71103586	G	A	71103586	3	1	494	1	0	0	0	0	1	0	0	0	7240	1290	45	2	251	2	HK1	10	71103586	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	7120561	71103586	64431161	288	95753											
GRID1	2894	broad.mit.edu	37	chr10	87373344	87373344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggtcacagcggcccatGtgcggccaccacttctgctt	6	9	12	14	2	2	1	1	1	1	0	2	1	2	1	3	3	3	1	3	3	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:87373344G>T	ENST00000327946.7	-	15	2506	c.2421C>A	c.(2419-2421)caC>caA	p.H807Q	GRID1_ENST00000536331.1_Missense_Mutation_p.H378Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	807						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCGGCCCATGTGCGGCCACC	0.607										Multiple Myeloma(13;0.14)			29	72					2.85442e-18	3.42417e-18	1	0	T	87373344	G	T	87373344	3	4	494	1	0	0	0	0	1	0	0	0	6821	1368	48	4	616	4	GRID1	10	87373344	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	16269758	87373344	48161403	289	95754											
LIPA	3988	broad.mit.edu	37	chr10	90986712	90986712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttggccagttttattcaGaatgaagttaatggaagctg	11	15	10	5	0	2	2	1	1	1	1	2	3	2	3	1	2	1	3	1	2	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:90986712G>C	ENST00000336233.5	-	5	800	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V	LIPA_ENST00000456827.1_Missense_Mutation_p.L160V|LIPA_ENST00000371837.1_Missense_Mutation_p.L104V			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	160					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GTTTTATTCAGAATGAAGTTA	0.333													43	91					0	0	0	0	C	90986712	G	C	90986712	3	2	494	1	0	0	0	0	1	0	0	0	8874	933	33	2	745	2	LIPA	10	90986712	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3613368	90986712	44548035	290	95755											
CYP26C1	340665	broad.mit.edu	37	chr10	94826034	94826034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccgccctgcgcaccttcGagctcgacgtaagtgcgccg	6	6	12	17	7	0	0	0	0	0	0	2	2	0	0	4	0	3	4	4	0	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:94826034G>A	ENST00000285949.5	+	5	1183	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	395					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGCACCTTCGAGCTCGACGT	0.756													7	16					0	0	0	0	A	94826034	G	A	94826034	3	1	494	1	0	0	0	0	1	0	0	0	4189	1059	37	1	1201	1	CYP26C1	10	94826034	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3839322	94826034	40708713	291	95756											
TLL2	7093	broad.mit.edu	37	chr10	98129948	98129948	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaatgtcagctccacgccGtagccgtcctctgccacgat	7	8	10	16	5	2	0	1	0	1	0	4	2	4	1	5	1	3	2	5	1	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:98129948G>T	ENST00000357947.3	-	20	3012	c.2787C>A	c.(2785-2787)taC>taA	p.Y929*		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	929	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTCCACGCCGTAGCCGTCCT	0.607													20	49					0.00047179	0.000487864	1	0	T	98129948	G	T	98129948	4	4	494	1	0	0	0	0	0	1	0	0	16040	1140	40	3	268	3	TLL2	10	98129948	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3303914	98129948	37404799	292	95757											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118386421	118386421	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatctgtgtggactggaGgcacgggtcccgggcaatgt	6	9	16	10	2	1	0	0	0	1	0	2	2	2	2	1	5	1	3	1	5	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:118386421G>A	ENST00000537242.1	+	0	403				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGGACTGGAGGCACGGGTCC	0.502													6	29					0	0	0	0	A	118386421	G	A	118386421	1	1	494	0	1	0	0	0	0	0	0	0	12223	1000	35	4		4	PNLIPRP2	10	118386421	RNA	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	20256473	118386421	17148326	293	95758											
SLC18A2	6571	broad.mit.edu	37	chr10	119015117	119015117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcttgacagagtcagaagGggacacccctaaccacgctg	11	8	10	12	1	2	3	1	1	1	2	2	4	2	4	3	2	1	1	3	2	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:119015117G>A	ENST00000298472.5	+	9	987	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	282					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAGTCAGAAGGGGACACCCCT	0.612													22	74					0	0	0	0	A	119015117	G	A	119015117	3	1	494	1	0	0	0	0	1	0	0	0	14514	1232	43	4	874	4	SLC18A2	10	119015117	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	628696	119015117	16519630	294	95759											
FAM24A	118670	broad.mit.edu	37	chr10	124672315	124672315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctgtggctgtaaaaaatCacaacccagacaaggtgtgt	14	9	10	8	0	1	1	1	0	0	1	1	1	1	1	1	2	2	3	1	2	5	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:124672315C>G	ENST00000368894.1	+	3	284	c.163C>G	c.(163-165)Cac>Gac	p.H55D		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	55						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TGTAAAAAATCACAACCCAGA	0.463													30	88					0	0	0	0	G	124672315	C	G	124672315	3	3	494	1	0	0	0	0	1	0	0	0	5591	826	29	2	169	2	FAM24A	10	124672315	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5657198	124672315	10862432	295	95760											
C10orf88	80007	broad.mit.edu	37	chr10	124697575	124697575	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtgtggaggacgacttgTttaaggttcctaaggtagat	11	12	14	4	1	0	1	0	0	0	1	1	4	1	3	1	5	0	3	1	5	4	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:124697575T>C	ENST00000481909.1	-	5	973	c.749A>G	c.(748-750)aAc>aGc	p.N250S	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	250										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GGACGACTTGTTTAAGGTTCC	0.408													35	132					0	0	0	0	C	124697575	T	C	124697575	3	2	494	1	0	0	0	0	1	0	0	0	1632	1725	60	5	596	5	C10orf88	10	124697575	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	25260	124697575	10837172	296	95761											
ZRANB1	54764	broad.mit.edu	37	chr10	126631073	126631073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcacaatgtcagaacGtggaattaagtgggcttgtg	12	10	14	5	1	1	1	1	0	0	1	1	3	1	2	0	2	2	2	0	2	5	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:126631073G>C	ENST00000359653.4	+	1	382	c.11G>C	c.(10-12)cGt>cCt	p.R4P	RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	4					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		ATGTCAGAACGTGGAATTAAG	0.388													24	72					0	0	0	0	C	126631073	G	C	126631073	3	2	494	1	0	0	0	0	1	0	0	0	18315	1145	40	3	13	3	ZRANB1	10	126631073	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1933498	126631073	8903674	297	95762											
MKI67	4288	broad.mit.edu	37	chr10	129902617	129902617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgagcttgctgactgctAggggctcttctttcatgtcc	4	15	12	10	0	3	2	1	2	2	0	4	2	4	2	1	2	3	4	1	2	1	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:129902617A>C	ENST00000368654.3	-	13	7862	c.7487T>G	c.(7486-7488)cTa>cGa	p.L2496R	MKI67_ENST00000368653.3_Missense_Mutation_p.L2136R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2496	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGACTGCTAGGGGCTCTTC	0.488													56	270					0	0	0	0	C	129902617	A	C	129902617	3	2	494	1	0	0	0	0	1	0	0	0	9667	420	15	5	2295	5	MKI67	10	129902617	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	3271544	129902617	5632130	298	95763											
RASSF7	8045	broad.mit.edu	37	chr11	562352	562352	+	Frame_Shift_Del	DEL	C	C	-																															aacactgacccccgagccagCccccagcctctcacgccctg																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:562352delC	ENST00000397583.3	+	3	831	c.398delC	c.(397-399)gcfs	p.A133fs	RASSF7_ENST00000454668.2_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000397582.3_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000431809.1_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000344375.4_Frame_Shift_Del_p.A133fs	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	133	Pro-rich.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGAGCCAGCCCCCAGCCTC	0.682													5	6	---	---	---	---					-	562352	C	-	562352	7	5	494	1	0	1	0	1	0	0	0	0	13173	739	26	0	404	0	RASSF7	11	562352	Frame_Shift_Del	DEL	C	TCGA-UF-A71D-01A-12D-A34J-08		562352	134444164	299	95764											
ADM	133	broad.mit.edu	37	chr11	10327307	10327307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccttcctaggcgctgaCaccgctcggttggatgtcgc	4	10	12	15	5	0	1	0	1	0	0	4	2	1	2	3	3	0	3	3	3	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:10327307C>T	ENST00000528655.1	+	1	677	c.60C>T	c.(58-60)gaC>gaT	p.D20D	ADM_ENST00000534464.1_5'UTR|ADM_ENST00000278175.5_Silent_p.D20D|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000525063.1_Silent_p.D20D|ADM_ENST00000526492.1_Silent_p.D20D|ADM_ENST00000528544.1_Silent_p.D20D|ADM_ENST00000524948.1_Silent_p.D20D			P35318	ADML_HUMAN	adrenomedullin	20					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TAGGCGCTGACACCGCTCGGT	0.607													17	35					0	0	0	0	T	10327307	C	T	10327307	2	4	494	1	0	0	0	0	0	0	0	1	321	477	17	4		4	ADM	11	10327307	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9764955	10327307	124679209	300	95765											
ANO5	203859	broad.mit.edu	37	chr11	22277018	22277018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagcagcttcagctgagaCcagaatttgaagctatgtgt	12	10	11	8	0	1	3	1	2	0	2	1	4	1	3	1	0	5	5	1	0	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:22277018C>G	ENST00000324559.8	+	13	1599	c.1282C>G	c.(1282-1284)Cca>Gca	p.P428A		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	428						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGCTGAGACCAGAATTTGA	0.433													14	130					0	0	0	0	G	22277018	C	G	22277018	3	3	494	1	0	0	0	0	1	0	0	0	699	507	18	4	1332	4	ANO5	11	22277018	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	11949711	22277018	112729498	301	95766											
KIF18A	81930	broad.mit.edu	37	chr11	28057765	28057765	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatattatttttttgtaccGttgtaaaatgtctttgttat	11	22	5	3	1	1	0	0	0	1	0	1	0	1	0	1	0	1	4	1	0	7	10			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:28057765G>A	ENST00000263181.6	-	14	2685	c.2396_splice	c.e14+1	p.R799_splice		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	799					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTTTGTACCGTTGTAAAATG	0.299													8	38					0	0	0	0	A	28057765	G	A	28057765	5	1	494	1	0	0	0	0	0	0	1	0	8331	1159	40	1	317	1	KIF18A	11	28057765	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5780747	28057765	106948751	302	95767											
OR8I2	120586	broad.mit.edu	37	chr11	55861561	55861561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgattttcacctatttgCaacctgataacacatcatcg	11	14	4	12	1	3	2	2	2	1	0	4	2	3	2	2	0	3	1	2	0	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:55861561C>A	ENST00000302124.2	+	1	809	c.778C>A	c.(778-780)Caa>Aaa	p.Q260K	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCTATTTGCAACCTGATAA	0.493													25	139					2.27525e-19	2.77325e-19	1	0	A	55861561	C	A	55861561	3	1	494	1	0	0	0	0	1	0	0	0	11311	711	25	4	780	4	OR8I2	11	55861561	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	27803796	55861561	79144955	303	95768											
OR5M9	390162	broad.mit.edu	37	chr11	56230518	56230518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggttgcagccggccatgtaCctgtcaaaggccatcacagc	9	7	12	13	1	2	0	2	0	0	0	2	0	2	0	4	3	4	3	4	3	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:56230518C>T	ENST00000279791.1	-	1	359	c.360G>A	c.(358-360)agG>agA	p.R120R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CGGCCATGTACCTGTCAAAGG	0.483													32	133					0	0	0	0	T	56230518	C	T	56230518	2	4	494	1	0	0	0	0	0	0	0	1	11248	506	18	4		4	OR5M9	11	56230518	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	368957	56230518	78775998	304	95769											
OR9G4	283189	broad.mit.edu	37	chr11	56510691	56510691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtacaggacatttttacCaatggtggtgcatcacagaa	12	13	9	7	0	1	1	1	0	0	1	1	2	1	2	1	3	3	2	1	3	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:56510691C>T	ENST00000302957.3	-	1	596	c.597G>A	c.(595-597)ttG>ttA	p.L199L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACATTTTTACCAATGGTGGTG	0.433													10	61					0	0	0	0	T	56510691	C	T	56510691	2	4	494	1	0	0	0	0	0	0	0	1	11322	593	21	4		4	OR9G4	11	56510691	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	280173	56510691	78495825	305	95770											
LPXN	9404	broad.mit.edu	37	chr11	58317311	58317311	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaagaagtgctctgggtgCcaggtctggttcattgctgt	7	12	14	8	0	3	2	1	0	2	2	3	2	3	2	1	3	3	3	1	3	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:58317311C>T	ENST00000528954.1	-	7	824	c.705G>A	c.(703-705)tgG>tgA	p.W235*	LPXN_ENST00000528489.1_Nonsense_Mutation_p.W210*|LPXN_ENST00000395074.2_Nonsense_Mutation_p.W230*	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	230	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCTCTGGGTGCCAGGTCTGGT	0.488													10	46					0	0	0	0	T	58317311	C	T	58317311	4	4	494	1	0	0	0	0	0	1	0	0	8993	740	26	4	482	4	LPXN	11	58317311	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1806620	58317311	76689205	306	95771											
MS4A1	931	broad.mit.edu	37	chr11	60234504	60234504	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatcgttgagaatgaaTggaaaagaacgtgctccaga	14	8	12	7	2	0	4	0	2	0	3	2	6	1	5	1	2	2	3	1	2	5	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:60234504T>A	ENST00000534668.1	+	6	935	c.646T>A	c.(646-648)Tgg>Agg	p.W216R	MS4A1_ENST00000528313.1_Missense_Mutation_p.W49R|MS4A1_ENST00000345732.4_Missense_Mutation_p.W216R|MS4A1_ENST00000532073.1_Missense_Mutation_p.W203R|MS4A1_ENST00000389939.2_Missense_Mutation_p.W216R	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	216					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TGAGAATGAATGGAAAAGAAC	0.433													39	135					0	0	0	0	A	60234504	T	A	60234504	3	1	494	1	0	0	0	0	1	0	0	0	9924	1464	51	5	664	5	MS4A1	11	60234504	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	1917193	60234504	74772012	307	95772											
VWCE	220001	broad.mit.edu	37	chr11	61031985	61031985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagcagcagtccccaGgaagcagggcagggtcggca	12	2	17	10	1	0	1	0	0	0	1	2	3	1	3	2	5	3	5	2	5	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:61031985G>T	ENST00000335613.5	-	19	2590	c.2204C>A	c.(2203-2205)cCt>cAt	p.P735H	VWCE_ENST00000535710.1_Missense_Mutation_p.P200H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	735	VWFC 6.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCAGTCCCCAGGAAGCAGGGC	0.582													6	21					3.59834e-05	3.77888e-05	1	0	T	61031985	G	T	61031985	3	4	494	1	0	0	0	0	1	0	0	0	17341	1000	35	4	671	4	VWCE	11	61031985	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	797481	61031985	73974531	308	95773											
AHNAK	79026	broad.mit.edu	37	chr11	62288724	62288724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaagttaaagtcaatgtCaggcatggagattttggggg	11	12	13	5	0	3	1	3	0	0	1	3	2	3	1	0	4	0	2	0	4	4	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:62288724C>T	ENST00000378024.4	-	5	13439	c.13165G>A	c.(13165-13167)Gac>Aac	p.D4389N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4389					nervous system development	nucleus	protein binding			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)				AAGTCAATGTCAGGCATGGAG	0.468													64	438					0	0	0	0	T	62288724	C	T	62288724	3	4	494	1	0	0	0	0	1	0	0	0	414	826	29	2	4627	2	AHNAK	11	62288724	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1256739	62288724	72717792	309	95774											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62489693	62489693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggtggtgggaagaagggctCctccttctgaccgaagttta	8	11	14	8	1	1	2	0	1	1	1	3	4	3	3	3	4	0	2	3	4	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:62489693C>T	ENST00000301785.5	-	7	1447	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E419K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	419	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGAAGGGCTCCTCCTTCTGA	0.517													60	97					0	0	0	0	T	62489693	C	T	62489693	3	4	494	1	0	0	0	0	1	0	0	0	7325	864	30	2	1020	2	HNRNPUL2	11	62489693	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	200969	62489693	72516823	310	95775											
PCNXL3	399909	broad.mit.edu	37	chr11	65392959	65392959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcccccggaccccttgcCggacaagatgcgccagtcgg	7	4	13	17	5	0	1	0	0	0	1	1	4	0	3	6	3	3	0	6	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:65392959C>T	ENST00000355703.3	+	18	3652	c.3113C>T	c.(3112-3114)cCg>cTg	p.P1038L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1038						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACCCCTTGCCGGACAAGATG	0.687													12	78					0	0	0	0	T	65392959	C	T	65392959	3	4	494	1	0	0	0	0	1	0	0	0	11664	652	23	1	3183	1	PCNXL3	11	65392959	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2903266	65392959	69613557	311	95776											
CTTN	2017	broad.mit.edu	37	chr11	70281209	70281209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgacggctggtggcgcGgggtgtgcaagggccggtac	5	7	20	9	5	0	1	0	1	0	0	0	2	0	1	1	7	2	3	1	7	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:70281209G>T	ENST00000346329.3	+	17	1791	c.1483G>T	c.(1483-1485)Ggg>Tgg	p.G495W	CTTN_ENST00000376561.3_Missense_Mutation_p.G495W|CTTN_ENST00000301843.8_Missense_Mutation_p.G532W|CTTN_ENST00000538675.1_Missense_Mutation_p.G216W	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	532	SH3.			I -> Y (in Ref. 1; AAA58455).		cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CTGGTGGCGCGGGGTGTGCAA	0.617													22	243					2.32416e-17	2.77164e-17	1	0	T	70281209	G	T	70281209	3	4	494	1	0	0	0	0	1	0	0	0	4076	1116	39	3	1656	3	CTTN	11	70281209	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4888250	70281209	64725307	312	95777											
P2RY6	5031	broad.mit.edu	37	chr11	73007627	73007627	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaccacctgtgtctaccgcGagaacttcaagcaactgctg	10	8	8	15	2	2	1	1	0	1	1	2	2	2	1	4	0	5	2	4	0	4	2	rs61745521	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:73007627G>C	ENST00000393590.2	+	2	363	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	P2RY6_ENST00000542092.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000540342.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000393592.2_Missense_Mutation_p.E22Q|P2RY6_ENST00000540124.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000393591.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000538328.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000349767.2_Missense_Mutation_p.E22Q	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	22					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.E22*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						TGTCTACCGCGAGAACTTCAA	0.607													51	206					0	0	0	0	C	73007627	G	C	73007627	3	2	494	1	0	0	0	0	1	0	0	0	11425	1059	37	3	66	3	P2RY6	11	73007627	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2726418	73007627	61998889	313	95778											
USP35	57558	broad.mit.edu	37	chr11	77921127	77921127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcggggacccacccGgatgctgccatcccctccgg	5	5	14	17	3	0	0	0	0	0	0	2	3	2	3	6	5	3	1	6	5	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:77921127G>A	ENST00000529308.1	+	10	2487	c.2226G>A	c.(2224-2226)ccG>ccA	p.P742P	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Silent_p.P310P|USP35_ENST00000526425.1_Silent_p.P473P|USP35_ENST00000441408.2_Silent_p.P328P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	742					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGACCCACCCGGATGCTGCCA	0.607													14	96					0	0	0	0	A	77921127	G	A	77921127	2	1	494	1	0	0	0	0	0	0	0	1	17162	1103	39	1		1	USP35	11	77921127	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4913500	77921127	57085389	314	95779											
GRM5	2915	broad.mit.edu	37	chr11	88780522	88780522	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatccatgctggttgcTgagtaagcaatctgaggtat	10	12	11	8	0	2	3	1	2	1	1	3	3	3	3	1	2	3	6	1	2	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:88780522T>A	ENST00000418177.2	-	2	886	c.519A>T	c.(517-519)tcA>tcT	p.S173S	GRM5_ENST00000305432.5_Silent_p.S173S|GRM5_ENST00000393297.1_Silent_p.S173S|GRM5_ENST00000393294.3_Silent_p.S173S|GRM5_ENST00000455756.2_Silent_p.S173S|GRM5_ENST00000305447.4_Silent_p.S173S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	173					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGCTGGTTGCTGAGTAAGCAA	0.488													8	88					0	0	0	0	A	88780522	T	A	88780522	2	1	494	1	0	0	0	0	0	0	0	1	6850	1567	55	5		5	GRM5	11	88780522	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	10859395	88780522	46225994	315	95780											
TYR	7299	broad.mit.edu	37	chr11	88911788	88911788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtgggaacaagaaatcCagaagctgacaggagatgaa	16	5	14	6	1	0	5	0	2	0	3	1	7	1	6	1	3	3	1	1	3	5	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:88911788C>A	ENST00000263321.5	+	1	1169	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	223					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.Q223K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ACAAGAAATCCAGAAGCTGAC	0.468													42	147					1.57019e-19	1.91772e-19	1	0	A	88911788	C	A	88911788	3	1	494	1	0	0	0	0	1	0	0	0	16909	595	21	4	669	4	TYR	11	88911788	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	131266	88911788	46094728	316	95781											
FAT3	120114	broad.mit.edu	37	chr11	92534474	92534474	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaggaaacaggcactatTaagcttgacaaacgccttga	16	7	9	9	1	0	2	0	2	0	0	0	4	0	3	1	2	4	2	1	2	5	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:92534474T>C	ENST00000298047.6	+	9	8312	c.8295T>C	c.(8293-8295)atT>atC	p.I2765I	FAT3_ENST00000525166.1_Silent_p.I2615I|FAT3_ENST00000409404.2_Silent_p.I2765I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2765	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGCACTATTAAGCTTGACA	0.458										TCGA Ovarian(4;0.039)			11	40					0	0	0	0	C	92534474	T	C	92534474	2	2	494	1	0	0	0	0	0	0	0	1	5736	1742	61	5		5	FAT3	11	92534474	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	3622686	92534474	42472042	317	95782											
MTNR1B	4544	broad.mit.edu	37	chr11	92715054	92715054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtccttctgctacctgcGcatctgggtgctggtgcttc	2	14	12	13	2	2	0	0	0	2	0	4	0	3	0	2	2	5	4	2	2	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:92715054G>T	ENST00000257068.2	+	2	671	c.665G>T	c.(664-666)cGc>cTc	p.R222L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	222					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGCTACCTGCGCATCTGGGTG	0.602													30	48					8.58068e-18	1.02731e-17	1	0	T	92715054	G	T	92715054	3	4	494	1	0	0	0	0	1	0	0	0	10022	1087	38	3	671	3	MTNR1B	11	92715054	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	180580	92715054	42291462	318	95783											
MMP10	4319	broad.mit.edu	37	chr11	102650092	102650092	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggtgtataattcacaatCctggaggagaaaaattgaag	15	11	10	5	0	2	2	1	1	1	1	3	4	3	3	1	3	0	1	1	3	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:102650092C>A	ENST00000279441.4	-	3	384	c.347_splice	c.e3-1	p.R116_splice		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	116					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AATTCACAATCCTGGAGGAGA	0.368													102	118					8.78727e-49	1.13972e-48	1	0	A	102650092	C	A	102650092	5	1	494	1	0	0	0	0	0	0	1	0	9718	869	30	2	1114	2	MMP10	11	102650092	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9935038	102650092	32356424	319	95784											
MMP13	4322	broad.mit.edu	37	chr11	102818643	102818643	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacctggtttcctgagaaCaggagagtcttgcctgtatc	9	11	11	10	0	1	3	0	1	1	3	3	5	2	3	3	2	2	2	3	2	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:102818643C>G	ENST00000260302.3	-	8	1216	c.1188G>C	c.(1186-1188)ctG>ctC	p.L396L	MMP13_ENST00000340273.4_Silent_p.L396L	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	396	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTCCTGAGAACAGGAGAGTCT	0.438													32	97					0	0	0	0	G	102818643	C	G	102818643	2	3	494	1	0	0	0	0	0	0	0	1	9721	465	17	4		4	MMP13	11	102818643	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	168551	102818643	32187873	320	95785											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027225	103027225	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgattatgaagacagcCaaagtcgaactatgaagctg	16	10	9	6	1	0	4	0	3	0	1	1	5	0	4	1	0	3	1	1	0	7	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:103027225C>T	ENST00000375735.2	+	26	3997	c.3853C>T	c.(3853-3855)Caa>Taa	p.Q1285*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q1285*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1285	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAAGACAGCCAAAGTCGAAC	0.378													21	112					0	0	0	0	T	103027225	C	T	103027225	4	4	494	1	0	0	0	0	0	1	0	0	4882	595	21	4	3955	4	DYNC2H1	11	103027225	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	208582	103027225	31979291	321	95786											
GRIA4	2893	broad.mit.edu	37	chr11	105795149	105795149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagattgctattgcccctCtgacaatcactttggtacga	10	12	8	11	1	2	2	1	1	1	1	2	4	2	2	2	1	3	2	2	1	3	5	rs115477628	by1000genomes	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:105795149C>G	ENST00000393127.2	+	12	1947	c.1501C>G	c.(1501-1503)Ctg>Gtg	p.L501V	GRIA4_ENST00000525187.1_Missense_Mutation_p.L501V|GRIA4_ENST00000530497.1_Missense_Mutation_p.L501V|GRIA4_ENST00000282499.5_Missense_Mutation_p.L501V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	501	Glutamate binding (By similarity).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TATTGCCCCTCTGACAATCAC	0.388													96	133					0	0	0	0	G	105795149	C	G	105795149	3	3	494	1	0	0	0	0	1	0	0	0	6820	912	32	2	1580	2	GRIA4	11	105795149	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2767924	105795149	29211367	322	95787											
C11orf53	341032	broad.mit.edu	37	chr11	111156520	111156520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcccagcacaggggctcaaGctgggggtcatccctggctg	6	6	15	14	1	2	0	2	0	0	0	3	0	3	0	2	5	2	4	2	5	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:111156520G>A	ENST00000280325.4	+	4	599	c.452G>A	c.(451-453)aGc>aAc	p.S151N		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	151										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGGGGCTCAAGCTGGGGGTCA	0.642													18	97					0	0	0	0	A	111156520	G	A	111156520	3	1	494	1	0	0	0	0	1	0	0	0	1659	971	34	4	462	4	C11orf53	11	111156520	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5361371	111156520	23849996	323	95788											
ZBTB16	7704	broad.mit.edu	37	chr11	114117978	114117978	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggatgagagcacactCaagagccacaaacgcatcca	14	5	9	13	2	1	2	1	1	0	2	3	4	3	3	3	1	3	2	3	1	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:114117978C>A	ENST00000335953.4	+	6	2063	c.1683C>A	c.(1681-1683)ctC>ctA	p.L561L	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Silent_p.L561L|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	561					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAGCACACTCAAGAGCCACA	0.577													29	30					1.16021e-09	1.27581e-09	1	0	A	114117978	C	A	114117978	2	1	494	1	0	0	0	0	0	0	0	1	17621	813	29	2		2	ZBTB16	11	114117978	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2961458	114117978	20888538	324	95789											
PHLDB1	23187	broad.mit.edu	37	chr11	118521236	118521250	+	In_Frame_Del	DEL	CCTTTCCTATTATGT	CCTTTCCTATTATGT	-																															ttcgaccggctcaagcgcacCctttcctattatgtgggtga																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:118521236_118521250delCCTTTCCTATTATGT	ENST00000361417.2	+	21	4269_4283	c.3858_3872delCCTTTCCTATTATGT	c.(3856-3873)acg>ac	p.TLSYYV1286del	PHLDB1_ENST00000527898.1_In_Frame_Del_p.TLSYYV337del|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_In_Frame_Del_p.TLSYYV1239del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.TLSYYV429del	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1286	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAAGCGCACCCTTTCCTATTATGTGGGTGAGTTC	0.567													30	105	---	---	---	---					-	118521250	CCTTTCCTATTATGT	-	118521236	7	5	494	1	0	1	0	1	0	0	0	0	11923	610	22	0	3932	0	PHLDB1	11	118521236	In_Frame_Del	DEL	CCTTTCCTATTATGT	TCGA-UF-A71D-01A-12D-A34J-08	4403258	118521236	16485280	325	95790											
ZNF202	7753	broad.mit.edu	37	chr11	123601255	123601255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgtcactgcctcctcGccactttctggccgttggcc	4	10	9	18	3	2	0	1	0	1	0	4	0	3	0	6	2	2	1	6	2	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:123601255G>A	ENST00000336139.4	-	3	704	c.342C>T	c.(340-342)ggC>ggT	p.G114G	ZNF202_ENST00000529691.1_Silent_p.G114G|ZNF202_ENST00000530393.1_Silent_p.G114G			O95125	ZN202_HUMAN	zinc finger protein 202	114	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGCCTCCTCGCCACTTTCTG	0.587													30	145					0	0	0	0	A	123601255	G	A	123601255	2	1	494	1	0	0	0	0	0	0	0	1	17858	1074	38	1		1	ZNF202	11	123601255	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5080019	123601255	11405261	326	95791											
NFRKB	4798	broad.mit.edu	37	chr11	129734650	129734650	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcctgtttaggagaCggagctgtagtcacaacaac	11	9	12	9	1	2	1	2	0	0	1	2	3	2	2	1	3	4	3	1	3	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:129734650C>T	ENST00000446488.3	-	26	3973	c.3870G>A	c.(3868-3870)ccG>ccA	p.P1290P	NFRKB_ENST00000524746.1_Silent_p.P1290P|NFRKB_ENST00000304521.5_Silent_p.P1290P|NFRKB_ENST00000524794.1_Silent_p.P1315P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1290					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTTAGGAGACGGAGCTGTAG	0.542													29	100					0	0	0	0	T	129734650	C	T	129734650	2	4	494	1	0	0	0	0	0	0	0	1	10454	523	19	1		1	NFRKB	11	129734650	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6133395	129734650	5271866	327	95792											
GLB1L2	89944	broad.mit.edu	37	chr11	134239780	134239780	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcttcggctccatctcagGtacccagcagacagcagact	9	9	8	15	1	2	2	1	0	2	2	5	2	3	2	2	2	3	4	2	2	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:134239780G>A	ENST00000535456.2	+	11	1296		c.e11+1		GLB1L2_ENST00000389881.3_Splice_Site|GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000529077.1_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCCATCTCAGGTACCCAGCAG	0.547													32	95					0	0	0	0	A	134239780	G	A	134239780	5	1	494	1	0	0	0	0	0	0	1	0	6480	1275	44	4	1151	4	GLB1L2	11	134239780	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4505130	134239780	766736	328	95793											
C12orf4	57102	broad.mit.edu	37	chr12	4639179	4639179	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgcaaaatcttcatccCagctgggttcttcaggcctt	8	13	7	13	0	5	0	2	0	3	0	6	0	6	0	2	2	2	3	2	2	2	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:4639179C>T	ENST00000261250.3	-	4	449	c.362G>A	c.(361-363)tGg>tAg	p.W121*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.W121*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	121										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATCTTCATCCCAGCTGGGTTC	0.348													25	108					0	0	0	0	T	4639179	C	T	4639179	4	4	494	1	0	0	0	0	0	1	0	0	1697	595	21	4	1340	4	C12orf4	12	4639179	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		4639179	129212716	329	95794											
A2M	2	broad.mit.edu	37	chr12	9229400	9229400	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagtacttccttcctctTgtcctggttacctgccaggg	4	15	9	13	0	1	1	0	1	1	0	4	1	4	1	5	2	3	2	5	2	2	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:9229400T>A	ENST00000318602.7	-	28	3791	c.3484A>T	c.(3484-3486)Aag>Tag	p.K1162*		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1162					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCTTCCTCTTGTCCTGGTTA	0.507													24	62					0	0	0	0	A	9229400	T	A	9229400	4	1	494	1	0	0	0	0	0	1	0	0	4	1821	63	5	976	5	A2M	12	9229400	Nonsense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	4590221	9229400	124622495	330	95795											
EPS8	2059	broad.mit.edu	37	chr12	15823836	15823836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactgctgacactgtccCgtgcataattcttcctttgt	8	14	6	13	1	1	1	0	1	1	0	3	1	3	1	2	0	2	2	2	0	1	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:15823836C>A	ENST00000281172.5	-	4	594	c.158G>T	c.(157-159)cGg>cTg	p.R53L	EPS8_ENST00000543523.1_Missense_Mutation_p.R53L|EPS8_ENST00000543612.1_Missense_Mutation_p.R53L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	53					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GACACTGTCCCGTGCATAATT	0.383													6	96					0.0381472	0.0385923	1	0	A	15823836	C	A	15823836	3	1	494	1	0	0	0	0	1	0	0	0	5232	652	23	3	2382	3	EPS8	12	15823836	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6594436	15823836	118028059	331	95796											
PLCZ1	89869	broad.mit.edu	37	chr12	18854659	18854659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accttttctttcatgggtttCctttaaggttcctattttct	5	22	5	9	0	3	0	1	0	2	0	5	0	5	0	3	2	0	2	3	2	2	10			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:18854659C>T	ENST00000447925.2	-	8	1179	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	PLCZ1_ENST00000435379.1_Missense_Mutation_p.E111K|PLCZ1_ENST00000538330.1_Missense_Mutation_p.E47K|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E113K|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E306K|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E169K|PLCZ1_ENST00000542762.1_5'UTR	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	306					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCATGGGTTTCCTTTAAGGTT	0.378													14	53					0	0	0	0	T	18854659	C	T	18854659	3	4	494	1	0	0	0	0	1	0	0	0	12116	864	30	2	942	2	PLCZ1	12	18854659	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3030823	18854659	114997236	332	95797											
PDE3A	5139	broad.mit.edu	37	chr12	20801742	20801742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccatgtggaatttaagCatttccgtttccttgtcatt	8	18	7	8	1	1	1	1	1	0	0	3	2	3	2	3	1	1	2	3	1	2	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:20801742C>T	ENST00000359062.3	+	13	2726	c.2686C>T	c.(2686-2688)Cat>Tat	p.H896Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	896	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGAATTTAAGCATTTCCGTTT	0.408													63	144					0	0	0	0	T	20801742	C	T	20801742	3	4	494	1	0	0	0	0	1	0	0	0	11708	710	25	4	2736	4	PDE3A	12	20801742	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1947083	20801742	113050153	333	95798											
PDE3A	5139	broad.mit.edu	37	chr12	20807067	20807067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagtcaggagatactgatGacccagaagaagaggaggaa	17	5	14	5	0	1	7	1	3	0	4	1	10	1	9	1	3	1	0	1	3	4	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:20807067G>A	ENST00000359062.3	+	15	3152	c.3112G>A	c.(3112-3114)Gac>Aac	p.D1038N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1038	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGATACTGATGACCCAGAAGA	0.448													26	52					0	0	0	0	A	20807067	G	A	20807067	3	1	494	1	0	0	0	0	1	0	0	0	11708	1290	45	2	3170	2	PDE3A	12	20807067	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5325	20807067	113044828	334	95799											
OR10AD1	121275	broad.mit.edu	37	chr12	48596810	48596810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagacaatgtggtccCtgaccacgaggtggatcaac	13	6	12	10	1	1	2	1	1	0	1	2	5	2	3	2	4	1	0	2	4	3	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:48596810C>T	ENST00000310248.2	-	1	360	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AATGTGGTCCCTGACCACGAG	0.512													16	30					0	0	0	0	T	48596810	C	T	48596810	3	4	494	1	0	0	0	0	1	0	0	0	10967	681	24	4	691	4	OR10AD1	12	48596810	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	27789743	48596810	85255085	335	95800											
KRT7	3855	broad.mit.edu	37	chr12	52629034	52629034	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagccgcctcccagacatCtttgaggcccagattgctgg	8	8	11	14	1	1	3	0	1	1	2	2	3	2	3	4	2	3	2	4	2	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:52629034C>T	ENST00000331817.5	+	2	603	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	140	Linker 1.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCCCAGACATCTTTGAGGCCC	0.632													23	55					0	0	0	0	T	52629034	C	T	52629034	2	4	494	1	0	0	0	0	0	0	0	1	8535	903	32	2		2	KRT7	12	52629034	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4032224	52629034	81222861	336	95801											
KRT78	196374	broad.mit.edu	37	chr12	53233635	53233635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcagctcctggtactcgCacagcagccgggccaggttc	6	8	12	15	3	1	0	1	0	0	0	5	0	2	0	3	3	4	5	3	3	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:53233635C>A	ENST00000359499.4	-	7	862	c.851G>T	c.(850-852)tGc>tTc	p.C284F	KRT78_ENST00000304620.4_Missense_Mutation_p.C394F			Q8N1N4	K2C78_HUMAN	keratin 78	394	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGTACTCGCACAGCAGCCG	0.642													16	68					2.23348e-06	2.3743e-06	1	0	A	53233635	C	A	53233635	3	1	494	1	0	0	0	0	1	0	0	0	8543	710	25	4	393	4	KRT78	12	53233635	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	604601	53233635	80618260	337	95802											
MAP3K12	7786	broad.mit.edu	37	chr12	53876790	53876790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggttcatggggtggCacagctgtacgaagcccagg	8	7	14	12	1	1	0	1	0	0	0	2	1	2	0	3	5	3	4	3	5	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:53876790C>T	ENST00000267079.2	-	12	1923	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V	MAP3K12_ENST00000547035.1_Silent_p.V599V|MAP3K12_ENST00000547488.1_Silent_p.V599V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	566					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CATGGGGTGGCACAGCTGTAC	0.701													13	26					0	0	0	0	T	53876790	C	T	53876790	2	4	494	1	0	0	0	0	0	0	0	1	9315	697	25	4		4	MAP3K12	12	53876790	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	643155	53876790	79975105	338	95803											
OR6C4	341418	broad.mit.edu	37	chr12	55945240	55945240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcacatccatttttattcCcagatttctgaccagcatga	10	15	4	12	0	2	3	1	2	1	1	4	3	4	3	3	0	1	1	3	0	1	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:55945240C>A	ENST00000394256.2	+	1	258	c.230C>A	c.(229-231)cCc>cAc	p.P77H	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ATTTTTATTCCCAGATTTCTG	0.418													56	123					3.50607e-19	4.26489e-19	1	0	A	55945240	C	A	55945240	3	1	494	1	0	0	0	0	1	0	0	0	11264	623	22	4	232	4	OR6C4	12	55945240	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2068450	55945240	77906655	339	95804											
NACA	4666	broad.mit.edu	37	chr12	57107449	57107449	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactcctgtaacctgccgaaGacccagtttggacatagcct	11	9	8	13	1	0	1	0	0	0	1	1	3	1	2	5	1	4	2	5	1	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:57107449G>C	ENST00000454682.1	-	6	6123	c.5842C>G	c.(5842-5844)Ctt>Gtt	p.L1948V	NACA_ENST00000548563.1_Missense_Mutation_p.L6V|NACA_ENST00000356769.3_Missense_Mutation_p.L85V|NACA_ENST00000546392.1_Missense_Mutation_p.L85V|NACA_ENST00000550952.1_Missense_Mutation_p.L795V|NACA_ENST00000393891.4_Missense_Mutation_p.L85V|NACA_ENST00000552540.1_Missense_Mutation_p.L85V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	85					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCTGCCGAAGACCCAGTTTG	0.403			T	BCL6	NHL								29	306					0	0	0	0	C	57107449	G	C	57107449	3	2	494	1	0	0	0	0	1	0	0	0	10203	942	33	2	410	2	NACA	12	57107449	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1162209	57107449	76744446	340	95805											
IRAK3	11213	broad.mit.edu	37	chr12	66641592	66641592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggagaatgtaccaagtattCcagtggaagatgatgaaagc	15	9	12	5	0	0	4	0	2	0	2	1	6	1	5	2	2	2	2	2	2	6	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:66641592C>T	ENST00000261233.4	+	12	1853	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	IRAK3_ENST00000457197.2_Missense_Mutation_p.P417S	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	478					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACCAAGTATTCCAGTGGAAGA	0.423													21	86					0	0	0	0	T	66641592	C	T	66641592	3	4	494	1	0	0	0	0	1	0	0	0	7877	855	30	2	1478	2	IRAK3	12	66641592	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9534143	66641592	67210303	341	95806											
BEST3	144453	broad.mit.edu	37	chr12	70072666	70072666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcctttcatctgttgtCataaaacctttacaaaaaaa	16	15	2	8	0	3	0	2	0	1	0	4	0	4	0	2	0	2	1	2	0	7	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:70072666C>A	ENST00000330891.5	-	5	715	c.489G>T	c.(487-489)atG>atT	p.M163I	BEST3_ENST00000553096.1_Missense_Mutation_p.M57I|BEST3_ENST00000331471.4_Missense_Mutation_p.M163I|BEST3_ENST00000476098.1_Start_Codon_SNP_p.M1I|BEST3_ENST00000488961.1_Start_Codon_SNP_p.M1I	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	163						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATCTGTTGTCATAAAACCTT	0.333													8	41					0.0581538	0.0587343	1	0	A	70072666	C	A	70072666	3	1	494	1	0	0	0	0	1	0	0	0	1410	826	29	2	1541	2	BEST3	12	70072666	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3431074	70072666	63779229	342	95807											
CAPS2	84698	broad.mit.edu	37	chr12	75672699	75672699	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatggagtacgtaagatgtTaacaaagtcttcatcatcta	14	12	7	8	1	4	1	2	0	2	1	4	2	4	2	1	1	2	3	1	1	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:75672699T>A	ENST00000393284.3	-	17	1721	c.1120A>T	c.(1120-1122)Aac>Tac	p.N374Y	CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.N196Y|CAPS2_ENST00000409445.3_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	0							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CGTAAGATGTTAACAAAGTCT	0.333													21	63					0	0	0	0	A	75672699	T	A	75672699	3	1	494	1	0	0	0	0	1	0	0	0	2663	1769	61	5		5	CAPS2	12	75672699	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	5600033	75672699	58179196	343	95808											
CAPS2	84698	broad.mit.edu	37	chr12	75672777	75672777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccatatgacacttcatCagacttgctgcaggcaactt	11	12	6	12	0	3	2	3	1	0	1	3	2	3	2	1	1	3	3	1	1	2	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:75672777C>A	ENST00000393284.3	-	17	1643	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.D170Y|CAPS2_ENST00000409445.3_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	0							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GACACTTCATCAGACTTGCTG	0.348													32	120					3.90053e-15	4.54438e-15	1	0	A	75672777	C	A	75672777	3	1	494	1	0	0	0	0	1	0	0	0	2663	841	29	2		2	CAPS2	12	75672777	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	78	75672777	58179118	344	95809											
UTP20	27340	broad.mit.edu	37	chr12	101757450	101757450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagaagcaaaagttacGactcttatgaaatcctcggc	15	8	8	10	3	1	2	0	1	1	1	3	4	2	2	1	1	2	2	1	1	7	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:101757450G>T	ENST00000261637.4	+	45	6061	c.5887G>T	c.(5887-5889)Gac>Tac	p.D1963Y		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1963					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAAAGTTACGACTCTTATGA	0.393													10	66					4.3838e-07	4.71803e-07	1	0	T	101757450	G	T	101757450	3	4	494	1	0	0	0	0	1	0	0	0	17195	1058	37	3	6065	3	UTP20	12	101757450	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	26084673	101757450	32094445	345	95810											
ALDH1L2	160428	broad.mit.edu	37	chr12	105443729	105443729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatatctgaatgtttgcAcagacattccaatgtgtgtc	13	13	7	8	0	1	2	0	1	1	1	3	2	2	2	1	0	1	2	1	0	5	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:105443729A>G	ENST00000258494.9	-	13	1783	c.1643T>C	c.(1642-1644)gTg>gCg	p.V548A		NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	548	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAATGTTTGCACAGACATTCC	0.413													56	146					0	0	0	0	G	105443729	A	G	105443729	3	3	494	1	0	0	0	0	1	0	0	0	495	159	6	5	1172	5	ALDH1L2	12	105443729	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	3686279	105443729	28408166	346	95811											
ACACB	32	broad.mit.edu	37	chr12	109629428	109629428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccttcaaggaacatggtgGtggctttgaaggaactgtcc	9	11	12	9	0	1	1	1	1	0	0	3	3	3	3	2	5	2	1	2	5	4	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:109629428G>T	ENST00000338432.7	+	14	2274	c.2155G>T	c.(2155-2157)Gtg>Ttg	p.V719L	ACACB_ENST00000377848.3_Missense_Mutation_p.V719L|ACACB_ENST00000377854.5_Missense_Mutation_p.V719L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	719	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAACATGGTGGTGGCTTTGAA	0.463													23	69					4.59853e-10	5.09363e-10	1	0	T	109629428	G	T	109629428	3	4	494	1	0	0	0	0	1	0	0	0	107	1261	44	4	2205	4	ACACB	12	109629428	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4185699	109629428	24222467	347	95812											
FOXN4	121643	broad.mit.edu	37	chr12	109719222	109719222	+	Frame_Shift_Del	DEL	G	G	-																															ccagcctcaccctgcagagcGaagtccatgatgctcgggtc																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:109719222delG	ENST00000299162.5	-	9	1388	c.1284delC	c.(1282-1284)ttfs	p.F428fs	FOXN4_ENST00000355216.1_Frame_Shift_Del_p.F248fs	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	428					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.F428F(1)|p.F248F(1)		large_intestine(5)|lung(9)|ovary(2)	16						CCTGCAGAGCGAAGTCCATGA	0.607													11	96	---	---	---	---					-	109719222	G	-	109719222	7	5	494	1	0	1	0	1	0	0	0	0	6069	1049	37	0	277	0	FOXN4	12	109719222	Frame_Shift_Del	DEL	G	TCGA-UF-A71D-01A-12D-A34J-08	89794	109719222	24132673	348	95813											
TRPV4	59341	broad.mit.edu	37	chr12	110230550	110230550	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaccagggcaaagaccatCacggccaggtaggcctcgat	12	4	13	12	2	1	1	1	0	0	1	2	3	1	2	4	5	0	2	4	5	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:110230550C>T	ENST00000418703.2	-	10	1825	c.1731G>A	c.(1729-1731)gtG>gtA	p.V577V	TRPV4_ENST00000346520.2_Silent_p.V517V|TRPV4_ENST00000261740.2_Silent_p.V577V|TRPV4_ENST00000544971.1_Silent_p.V470V|TRPV4_ENST00000541794.1_Silent_p.V530V|TRPV4_ENST00000537083.1_Silent_p.V517V|TRPV4_ENST00000392719.2_Silent_p.V530V|TRPV4_ENST00000536838.1_Silent_p.V543V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	577					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAAAGACCATCACGGCCAGGT	0.577													7	34					0	0	0	0	T	110230550	C	T	110230550	2	4	494	1	0	0	0	0	0	0	0	1	16693	813	29	2		2	TRPV4	12	110230550	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	511328	110230550	23621345	349	95814											
TPCN1	53373	broad.mit.edu	37	chr12	113707570	113707570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctctccccagcaacctgcGgcagatcttccagtccctgc	7	9	7	18	1	2	1	0	0	2	1	6	1	5	1	5	1	4	2	5	1	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:113707570G>A	ENST00000550785.1	+	8	1053	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	TPCN1_ENST00000541517.1_Missense_Mutation_p.R295Q|TPCN1_ENST00000335509.6_Missense_Mutation_p.R223Q|TPCN1_ENST00000392569.4_Missense_Mutation_p.R155Q	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	223						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCAACCTGCGGCAGATCTTC	0.612													17	107					0	0	0	0	A	113707570	G	A	113707570	3	1	494	1	0	0	0	0	1	0	0	0	16490	1116	39	1	910	1	TPCN1	12	113707570	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3477020	113707570	20144325	350	95815											
COX6A1	1337	broad.mit.edu	37	chr12	120876252	120876252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcagcatgctgaatgtgtaCctgaagtcgcaccacggaga	11	8	12	10	2	1	3	1	2	0	1	2	4	1	3	2	1	3	4	2	1	3	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:120876252C>T	ENST00000551806.1	+	2	103	c.103C>T	c.(103-105)Cct>Tct	p.P35S	COX6A1_ENST00000229379.2_Silent_p.Y58Y																							TGAATGTGTACCTGAAGTCGC	0.592													23	70					0	0	0	0	T	120876252	C	T	120876252	3	4	494	1	0	0	0	0	1	0	0	0	3804	518	18	4	180	4	COX6A1	12	120876252	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	7168682	120876252	12975643	351	95816											
KDM2B	84678	broad.mit.edu	37	chr12	121880319	121880319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccctcgctctcaggctcCgacttgatgggctgctggtt	3	12	12	14	3	1	1	1	1	1	0	5	2	2	1	2	3	1	5	2	3	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:121880319C>T	ENST00000377069.4	-	18	3124	c.2718G>A	c.(2716-2718)tcG>tcA	p.S906S	KDM2B_ENST00000542973.1_Silent_p.S343S|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.S975S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	975					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTCAGGCTCCGACTTGATGG	0.667													9	33					0	0	0	0	T	121880319	C	T	121880319	2	4	494	1	0	0	0	0	0	0	0	1	8178	639	23	1		1	KDM2B	12	121880319	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1004067	121880319	11971576	352	95817											
ORAI1	84876	broad.mit.edu	37	chr12	122079045	122079045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtgctggtggctgtgcaCctgtttgcgctcatgatcag	6	12	13	10	1	2	1	2	1	0	0	2	1	2	1	1	2	3	5	1	2	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:122079045C>T	ENST00000330079.7	+	2	601	c.408C>T	c.(406-408)caC>caT	p.H136H		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	134					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TGGCTGTGCACCTGTTTGCGC	0.612													9	40					0	0	0	0	T	122079045	C	T	122079045	2	4	494	1	0	0	0	0	0	0	0	1	11328	506	18	4		4	ORAI1	12	122079045	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	198726	122079045	11772850	353	95818											
FZD10	11211	broad.mit.edu	37	chr12	130647702	130647702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagttgcacgagttcgCgccgctggtggagtacggct	6	9	14	12	5	0	0	0	0	0	0	2	2	1	1	2	3	2	6	2	3	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130647702C>G	ENST00000229030.4	+	1	699	c.215C>G	c.(214-216)gCg>gGg	p.A72G	FZD10_ENST00000539839.1_Silent_p.R39R			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	72	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CACGAGTTCGCGCCGCTGGTG	0.637													6	56					0	0	0	0	G	130647702	C	G	130647702	3	3	494	1	0	0	0	0	1	0	0	0	6177	768	27	3	217	3	FZD10	12	130647702	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	8568657	130647702	3204193	354	95819											
PIWIL1	9271	broad.mit.edu	37	chr12	130841546	130841546	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttaagccactagataactgGctgttgatctatacgcgaag	12	11	10	8	2	1	2	0	1	1	1	1	3	1	2	1	1	3	3	1	1	6	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130841546G>A	ENST00000245255.3	+	13	1760	c.1488G>A	c.(1486-1488)tgG>tgA	p.W496*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	496					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAGATAACTGGCTGTTGATCT	0.368													31	62					0	0	0	0	A	130841546	G	A	130841546	4	1	494	1	0	0	0	0	0	1	0	0	12029	1212	42	4	1534	4	PIWIL1	12	130841546	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	193844	130841546	3010349	355	95820											
RIMBP2	23504	broad.mit.edu	37	chr12	130963555	130963555	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgttcagccgcctctcGcatatgctgtggggacagag	6	8	13	14	4	2	1	1	0	1	1	3	2	2	2	4	2	2	3	4	2	1	2	rs138967663		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130963555G>T	ENST00000261655.4	-	3	167	c.4C>A	c.(4-6)Cga>Aga	p.R2R	RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	2						cell junction|synapse				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)		GCCGCCTCTCGCATATGCTGT	0.617													19	48					1.96292e-10	2.18623e-10	1	0	T	130963555	G	T	130963555	2	4	494	1	0	0	0	0	0	0	0	1	13446	1095	38	3		3	RIMBP2	12	130963555	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	122009	130963555	2888340	356	95821											
GALNT9	50614	broad.mit.edu	37	chr12	132681769	132681769	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctccacctccaggcagcgGcccgtggcccggctcacaat	7	6	10	18	3	2	0	1	0	1	0	4	0	3	0	5	4	1	2	5	4	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:132681769G>T	ENST00000328957.8	-	11	1694	c.1695C>A	c.(1693-1695)ggC>ggA	p.G565G	GALNT9_ENST00000535228.1_Silent_p.G316G|GALNT9_ENST00000541995.1_Silent_p.G199G|GALNT9_ENST00000397325.2_Silent_p.G199G	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	565	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCAGGCAGCGGCCCGTGGCCC	0.627													28	37					2.61193e-14	3.02565e-14	1	0	T	132681769	G	T	132681769	2	4	494	1	0	0	0	0	0	0	0	1	6269	1190	42	4		4	GALNT9	12	132681769	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1718214	132681769	1170126	357	95822											
PXMP2	5827	broad.mit.edu	37	chr12	133266890	133266890	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacttcctggcccagatgaTtgagaagaagcggaaaaaag	16	6	12	7	1	0	4	0	2	0	3	1	7	1	5	2	2	2	0	2	2	6	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:133266890T>A	ENST00000317479.3	+	2	229	c.164T>A	c.(163-165)aTt>aAt	p.I55N	PXMP2_ENST00000539093.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000545677.1_5'UTR|PXMP2_ENST00000543589.1_Missense_Mutation_p.I55N	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	55						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCCCAGATGATTGAGAAGAAG	0.517													4	121					0	0	0	0	A	133266890	T	A	133266890	3	1	494	1	0	0	0	0	1	0	0	0	12932	1493	52	5	170	5	PXMP2	12	133266890	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	585121	133266890	585005	358	95823											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24466094	24466094	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtctctcctcggaggccTttctctcccatgggccctgc	3	11	9	18	1	2	0	0	0	2	0	7	1	4	1	5	3	1	0	5	3	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:24466094T>C	ENST00000382137.3	-	3	404	c.336A>G	c.(334-336)aaA>aaG	p.K112K	C1QTNF9B_ENST00000382140.2_Silent_p.K112K|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	112	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CTCGGAGGCCTTTCTCTCCCA	0.582													3	54					0	0	0	0	C	24466094	T	C	24466094	2	2	494	1	0	0	0	0	0	0	0	1	1990	1606	56	5		5	C1QTNF9B	13	24466094	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08		24466094	90703784	359	95824											
RNF17	56163	broad.mit.edu	37	chr13	25453334	25453334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttaattttaggctccagcaCcagaacagatagtgacatta	14	12	7	8	0	0	3	0	1	0	2	1	3	1	3	2	1	2	2	2	1	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:25453334C>T	ENST00000255324.5	+	35	4835	c.4783C>T	c.(4783-4785)Cca>Tca	p.P1595S	RNF17_ENST00000381921.1_Missense_Mutation_p.P1553S|RNF17_ENST00000339524.3_Missense_Mutation_p.P605S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1595					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GGCTCCAGCACCAGAACAGAT	0.413													24	40					0	0	0	0	T	25453334	C	T	25453334	3	4	494	1	0	0	0	0	1	0	0	0	13546	507	18	4	4921	4	RNF17	13	25453334	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	987240	25453334	89716544	360	95825											
PAN3	255967	broad.mit.edu	37	chr13	28866542	28866542	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgctggtgtgccagaaaaAataagcctgatttccagaga	14	9	11	7	0	0	3	0	1	0	2	1	5	1	3	3	1	3	1	3	1	4	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:28866542A>G	ENST00000399613.1	+	18	2010	c.1947A>G	c.(1945-1947)aaA>aaG	p.K649K	PAN3_ENST00000380958.3_Silent_p.K849K|PAN3_ENST00000282391.5_Silent_p.K537K			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	849	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGCCAGAAAAAATAAGCCTGA	0.353													41	55					0	0	0	0	G	28866542	A	G	28866542	2	3	494	1	0	0	0	0	0	0	0	1	11486	11	1	5		5	PAN3	13	28866542	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	3413208	28866542	86303336	361	95826											
HSPH1	10808	broad.mit.edu	37	chr13	31722151	31722151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaatagaaagcttctagCtcaaaaggcccccttctcag	13	9	7	12	0	4	2	3	0	2	2	5	2	4	2	2	1	2	2	2	1	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:31722151C>T	ENST00000320027.5	-	10	1667	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	HSPH1_ENST00000380406.5_Silent_p.E400E|HSPH1_ENST00000445273.2_Silent_p.E443E|HSPH1_ENST00000380405.4_Silent_p.E441E|HSPH1_ENST00000429785.2_Silent_p.E260E	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	441					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AAGCTTCTAGCTCAAAAGGCC	0.388													16	174					0	0	0	0	T	31722151	C	T	31722151	2	4	494	1	0	0	0	0	0	0	0	1	7484	796	28	4		4	HSPH1	13	31722151	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2855609	31722151	83447727	362	95827											
STARD13	90627	broad.mit.edu	37	chr13	33703941	33703942	+	Frame_Shift_Ins	INS	-	-	A																															aggactctggctcctgctgcINSaacatgggcccactgatcac																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:33703941_33703942insA	ENST00000336934.5	-	5	988_989	c.872_873insT	c.(871-873)tcafs	p.S291fs	STARD13_ENST00000399365.3_Frame_Shift_Ins_p.S173fs|STARD13_ENST00000255486.4_Frame_Shift_Ins_p.S283fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	291					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTCCTGCTGCAACATGGGCCC	0.559													29	53	---	---	---	---					A	33703942	-	A	33703941	7	5	494	1	0	1	1	0	0	0	0	0	15346	709	25	0	2508	0	STARD13	13	33703941	Frame_Shift_Ins	INS	-	TCGA-UF-A71D-01A-12D-A34J-08	1981790	33703941	81465937	363	95828											
TBC1D4	9882	broad.mit.edu	37	chr13	75930353	75930353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctctggagactcccggCagataaagccaaagtgatcc	12	6	11	12	1	1	3	0	1	1	2	3	4	3	3	3	3	1	2	3	3	3	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:75930353C>A	ENST00000377636.3	-	4	1551	c.1205G>T	c.(1204-1206)tGc>tTc	p.C402F	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.C402F|TBC1D4_ENST00000377625.2_Missense_Mutation_p.C402F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	402	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGACTCCCGGCAGATAAAGCC	0.418													18	43					8.34094e-07	8.91364e-07	1	0	A	75930353	C	A	75930353	3	1	494	1	0	0	0	0	1	0	0	0	15716	710	25	4	2763	4	TBC1D4	13	75930353	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	42226412	75930353	39239525	364	95829											
ABCC4	10257	broad.mit.edu	37	chr13	95887076	95887076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaatatgggctggattaCtttggcactttcctaaaaga	14	12	8	7	0	0	1	0	0	0	1	1	2	1	2	1	3	1	2	1	3	6	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:95887076C>T	ENST00000376887.4	-	4	433	c.319G>A	c.(319-321)Gta>Ata	p.V107I	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000431522.1_Missense_Mutation_p.V107I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V107I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	107	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGCTGGATTACTTTGGCACTT	0.338													3	10					0	0	0	0	T	95887076	C	T	95887076	3	4	494	1	0	0	0	0	1	0	0	0	55	565	20	4	3819	4	ABCC4	13	95887076	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	19956723	95887076	19282802	365	95830											
NALCN	259232	broad.mit.edu	37	chr13	102029375	102029375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacatgccccaaggtgaCatctgatcaactatatcagc	13	8	7	13	1	3	2	2	2	1	0	3	2	3	2	2	1	4	1	2	1	5	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:102029375C>T	ENST00000251127.6	-	5	489	c.408G>A	c.(406-408)atG>atA	p.M136I	NALCN_ENST00000376196.3_Missense_Mutation_p.M136I|NALCN_ENST00000376200.5_Missense_Mutation_p.M136I|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	136						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCAAGGTGACATCTGATCAA	0.398													32	69					0	0	0	0	T	102029375	C	T	102029375	3	4	494	1	0	0	0	0	1	0	0	0	10218	478	17	4	4968	4	NALCN	13	102029375	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6142299	102029375	13140503	366	95831											
FAM155A	728215	broad.mit.edu	37	chr13	108518400	108518400	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgcattctccaccgtgAagcactggcccgaggacgcg	7	6	12	16	6	1	1	0	1	1	0	3	3	2	2	4	2	1	2	4	2	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:108518400A>T	ENST00000375915.2	-	1	683	c.545T>A	c.(544-546)tTc>tAc	p.F182Y		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	182						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCACCGTGAAGCACTGGCC	0.667													23	72					0	0	0	0	T	108518400	A	T	108518400	3	4	494	1	0	0	0	0	1	0	0	0	5506	246	9	5	843	5	FAM155A	13	108518400	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	6489025	108518400	6651478	367	95832											
MYO16	23026	broad.mit.edu	37	chr13	109475564	109475564	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctttatctgcttctacCttagctcaagaagagcccta	10	12	7	12	0	3	2	1	0	2	2	3	3	3	2	3	0	5	2	3	0	6	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:109475564C>A	ENST00000356711.2	+	9	1095	c.969C>A	c.(967-969)acC>acA	p.T323T	MYO16_ENST00000357550.2_Silent_p.T323T|MYO16_ENST00000251041.5_Silent_p.T323T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	323					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGCTTCTACCTTAGCTCAAG	0.418													43	98					1.8453e-21	2.29058e-21	1	0	A	109475564	C	A	109475564	2	1	494	1	0	0	0	0	0	0	0	1	10134	668	24	4		4	MYO16	13	109475564	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	957164	109475564	5694314	368	95833											
IRS2	8660	broad.mit.edu	37	chr13	110434604	110434604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggcggcggctgcggctggGgtggcagcccgggctcctcc	1	5	20	15	5	0	0	0	0	0	0	2	0	2	0	3	8	2	4	3	8	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:110434604G>A	ENST00000375856.3	-	1	4311	c.3797C>T	c.(3796-3798)cCc>cTc	p.P1266L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1266	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ctgcggctggggtggcagcCC	0.701													10	31					0	0	0	0	A	110434604	G	A	110434604	3	1	494	1	0	0	0	0	1	0	0	0	7894	1232	43	4	227	4	IRS2	13	110434604	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	959040	110434604	4735274	369	95834											
F10	2159	broad.mit.edu	37	chr13	113793721	113793721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaccagggcaaatgtaaaGacggcctcggggaatacacc	15	4	12	10	2	0	2	0	0	0	2	1	3	0	3	3	4	2	2	3	4	6	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:113793721G>A	ENST00000375559.3	+	4	345	c.307G>A	c.(307-309)Gac>Aac	p.D103N	F10_ENST00000375551.3_Missense_Mutation_p.D103N|F10_ENST00000409306.1_Missense_Mutation_p.D103N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	103	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATGTAAAGACGGCCTCGG	0.488													12	57					0	0	0	0	A	113793721	G	A	113793721	3	1	494	1	0	0	0	0	1	0	0	0	5374	942	33	2	321	2	F10	13	113793721	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3359117	113793721	1376157	370	95835											
CDC16	8881	broad.mit.edu	37	chr13	115004938	115004938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcttcaaagatccttcCagcgactgggaaatgtcaca	12	9	10	10	1	2	1	2	0	0	1	4	3	4	2	2	2	1	1	2	2	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:115004938C>A	ENST00000360383.3	+	5	552	c.354C>A	c.(352-354)tcC>tcA	p.S118S	CDC16_ENST00000252457.5_Silent_p.S117S|CDC16_ENST00000375312.3_Silent_p.S24S|CDC16_ENST00000375308.1_Silent_p.S24S|CDC16_ENST00000375310.1_Silent_p.S24S|CDC16_ENST00000252458.6_Silent_p.S24S|CDC16_ENST00000356221.3_Silent_p.S118S	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AAGATCCTTCCAGCGACTGGG	0.448													16	49					1.15088e-07	1.25194e-07	1	0	A	115004938	C	A	115004938	2	1	494	1	0	0	0	0	0	0	0	1	3087	581	21	4		4	CDC16	13	115004938	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1211217	115004938	164940	371	95836											
OR4N2	390429	broad.mit.edu	37	chr14	20295760	20295760	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattttcaccataaagtcAgaccctgggctcacagcccc	11	10	6	14	0	3	1	3	0	0	1	3	1	3	1	4	1	1	1	4	1	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:20295760A>G	ENST00000315947.1	+	1	153	c.153A>G	c.(151-153)tcA>tcG	p.S51S	OR4N2_ENST00000568211.1_Silent_p.S51S	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATAAAGTCAGACCCTGGGC	0.468													19	353					0	0	0	0	G	20295760	A	G	20295760	2	3	494	1	0	0	0	0	0	0	0	1	11148	175	7	5		5	OR4N2	14	20295760	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08		20295760	87053780	372	95837											
FOXG1	2290	broad.mit.edu	37	chr14	29237395	29237395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttcatggaccgcgccGgctccctctactggcccatg	5	9	9	18	3	3	0	2	0	1	0	4	1	4	1	5	3	1	1	5	3	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:29237395G>A	ENST00000382535.3	+	2	1279	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	FOXG1_ENST00000313071.4_Missense_Mutation_p.G304S			P55316	FOXG1_HUMAN	forkhead box G1	304				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGACCGCGCCGGCTCCCTCTA	0.701													12	63					0	0	0	0	A	29237395	G	A	29237395	3	1	494	1	0	0	0	0	1	0	0	0	6054	1116	39	1	912	1	FOXG1	14	29237395	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	8941635	29237395	78112145	373	95838											
AKAP6	9472	broad.mit.edu	37	chr14	33165313	33165313	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcagcagcatctttaCaaggttagagctacccttcc	11	9	9	12	0	1	1	0	0	1	1	2	2	2	1	2	1	7	6	2	1	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:33165313C>A	ENST00000280979.4	+	9	3167	c.2997C>A	c.(2995-2997)taC>taA	p.Y999*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.Y999*|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.Y999*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	999					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCATCTTTACAAGGTTAGAG	0.478													10	73					2.17888e-05	2.30816e-05	1	0	A	33165313	C	A	33165313	4	1	494	1	0	0	0	0	0	1	0	0	455	489	17	4	3027	4	AKAP6	14	33165313	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3927918	33165313	74184227	374	95839											
FSCB	84075	broad.mit.edu	37	chr14	44973940	44973940	+	Missense_Mutation	SNP	C	C	A																															agacacattctctaccagagCctcatcttcaggggtttgtt																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:44973940C>A	ENST00000340446.4	-	1	2542	c.2251G>T	c.(2251-2253)Gct>Tct	p.A751S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	751						cilium		p.A751P(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)		TCTACCAGAGCCTCATCTTCA	0.468													35	52					9.04072e-19	1.09317e-18	1	0	A	44973940	C	A	44973940	3	1	494	1	0	0	0	0	1	0	0	0	6114	739	26	4	230	4	FSCB	14	44973940	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	11808627	44973940	62375600	375	95840	1139	2									
FSCB	84075	broad.mit.edu	37	chr14	44973941	44973941	+	Silent	SNP	C	C	T																															gacacattctctaccagagcCtcatcttcaggggtttgttc																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:44973941C>T	ENST00000340446.4	-	1	2541	c.2250G>A	c.(2248-2250)gaG>gaA	p.E750E		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	750						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTACCAGAGCCTCATCTTCAG	0.468													33	52					0	0	0	0	T	44973941	C	T	44973941	2	4	494	1	0	0	0	0	0	0	0	1	6114	680	24	4		4	FSCB	14	44973941	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1	44973941	62375599	376	95841	1139	2									
FAM179B	23116	broad.mit.edu	37	chr14	45431658	45431658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctccgcgctgcttctgctgCcgccctttccagtcctctct	1	13	7	20	3	2	0	0	0	2	0	6	0	5	0	6	0	3	3	6	0	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:45431658C>T	ENST00000361462.2	+	1	217	c.34C>T	c.(34-36)Ccg>Tcg	p.P12S	FAM179B_ENST00000361577.3_Missense_Mutation_p.P12S|FAM179B_ENST00000382233.2_Missense_Mutation_p.P12S			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	12							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTCTGCTGCCGCCCTTTCC	0.612													5	28					0	0	0	0	T	45431658	C	T	45431658	3	4	494	1	0	0	0	0	1	0	0	0	5547	739	26	4	36	4	FAM179B	14	45431658	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	457717	45431658	61917882	377	95842											
MDGA2	161357	broad.mit.edu	37	chr14	47504486	47504486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggtgatttttcctgtGgaacagtcagattgggtgga	9	13	13	6	0	1	2	1	1	0	1	2	4	2	4	2	4	1	0	2	4	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:47504486G>A	ENST00000426342.1	-	8	1399	c.653C>T	c.(652-654)cCa>cTa	p.P218L	MDGA2_ENST00000439988.2_Missense_Mutation_p.P447L|MDGA2_ENST00000399232.2_Missense_Mutation_p.P516L|MDGA2_ENST00000357362.3_Missense_Mutation_p.P218L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	447	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTTTCCTGTGGAACAGTCAG	0.378													48	82					0	0	0	0	A	47504486	G	A	47504486	3	1	494	1	0	0	0	0	1	0	0	0	9476	1348	47	4	1570	4	MDGA2	14	47504486	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2072828	47504486	59845054	378	95843											
SIPA1L1	26037	broad.mit.edu	37	chr14	72190465	72190465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccctcacagctcgcacCatccttctcctcctcttcct	4	12	3	22	1	3	0	1	0	2	0	8	0	6	0	7	0	2	2	7	0	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:72190465C>T	ENST00000555818.1	+	16	4721	c.4373C>T	c.(4372-4374)cCa>cTa	p.P1458L	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P912L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1437L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1437L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1458	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCTCGCACCAtccttctcc	0.557													6	112					0	0	0	0	T	72190465	C	T	72190465	3	4	494	1	0	0	0	0	1	0	0	0	14417	594	21	4	4431	4	SIPA1L1	14	72190465	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	24685979	72190465	35159075	379	95844											
DIO2	1734	broad.mit.edu	37	chr14	80669598	80669598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactggagacatgcaccaCactggaattgggggcatcct	10	9	12	10	0	0	1	0	0	0	1	1	3	1	2	2	4	2	3	2	4	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:80669598C>T	ENST00000557010.1	-	4	641	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	DIO2_ENST00000438257.4_Missense_Mutation_p.V86M|DIO2_ENST00000555750.1_Missense_Mutation_p.V122M|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.V86M	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	86					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACATGCACCACACTGGAATTG	0.458													4	13					0	0	0	0	T	80669598	C	T	80669598	3	4	494	1	0	0	0	0	1	0	0	0	4562	478	17	4	569	4	DIO2	14	80669598	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	8479133	80669598	26679942	380	95845											
SERPINA4	5267	broad.mit.edu	37	chr14	95035828	95035828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcttctctgcccagaccaatCgccacatcctgcgattcaac	9	10	5	17	2	3	1	1	0	2	1	6	2	4	1	4	0	3	0	4	0	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:95035828C>G	ENST00000557004.1	+	5	1601	c.1180C>G	c.(1180-1182)Cgc>Ggc	p.R394G	SERPINA4_ENST00000555095.1_Missense_Mutation_p.R394G|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R394G			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	394					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGACCAATCGCCACATCCT	0.582													11	47					0	0	0	0	G	95035828	C	G	95035828	3	3	494	1	0	0	0	0	1	0	0	0	14178	884	31	3	1194	3	SERPINA4	14	95035828	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	14366230	95035828	12313712	381	95846											
BAG5	9529	broad.mit.edu	37	chr14	104027165	104027165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgcagttgcctccattatAaaatggcacaattttctctc	11	14	5	11	1	1	0	0	0	1	0	4	0	2	0	2	1	2	3	2	1	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:104027165A>G	ENST00000445922.2	-	2	583	c.337T>C	c.(337-339)Tat>Cat	p.Y113H	BAG5_ENST00000299204.4_Missense_Mutation_p.Y113H|BAG5_ENST00000337322.4_Missense_Mutation_p.Y154H|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	113	BAG 2.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCTCCATTATAAAATGGCACA	0.433													5	166					0	0	0	0	G	104027165	A	G	104027165	3	3	494	1	0	0	0	0	1	0	0	0	1294	362	13	5	1010	5	BAG5	14	104027165	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	8991337	104027165	3322375	382	95847											
GABRG3	2567	broad.mit.edu	37	chr15	27772658	27772658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgtcctacgtgaccgcCatggacctttttgtgaccgt	5	12	11	13	5	0	2	0	2	0	0	1	3	1	3	5	1	1	0	5	1	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:27772658C>A	ENST00000333743.6	+	8	1199	c.945C>A	c.(943-945)gcC>gcA	p.A315A	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	315					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ACGTGACCGCCATGGACCTTT	0.567													15	51					2.31682e-05	2.45002e-05	1	0	A	27772658	C	A	27772658	2	1	494	1	0	0	0	0	0	0	0	1	6221	581	21	4		4	GABRG3	15	27772658	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		27772658	74758734	383	95848											
HERC2	8924	broad.mit.edu	37	chr15	28473446	28473446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttgcgccgtgctgcagGgtgagcatgctgagcatcac	6	11	14	10	2	1	2	1	2	0	0	1	2	1	2	1	1	6	6	1	1	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:28473446G>A	ENST00000261609.7	-	35	5490	c.5382C>T	c.(5380-5382)acC>acT	p.T1794T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1794					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTGCTGCAGGGTGAGCATGC	0.622													12	32					0	0	0	0	A	28473446	G	A	28473446	2	1	494	1	0	0	0	0	0	0	0	1	7108	1219	43	4		4	HERC2	15	28473446	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	700788	28473446	74057946	384	95849											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929543	32929543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatagcagacaacctacaGggcataagttggcgagtctt	13	9	11	8	1	1	1	0	0	1	1	1	2	1	1	1	2	3	4	1	2	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:32929543G>C	ENST00000361627.3	+	12	3291	c.2569G>C	c.(2569-2571)Ggg>Cgg	p.G857R	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.G668R|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.G668R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	857					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACAACCTACAGGGCATAAGTT	0.423													47	122					0	0	0	0	C	32929543	G	C	32929543	3	2	494	1	0	0	0	0	1	0	0	0	865	1000	35	4	2638	4	ARHGAP11A	15	32929543	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4456097	32929543	69601849	385	95850											
RYR3	6263	broad.mit.edu	37	chr15	34042180	34042180	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcttcttggtgggacacagGgaatggtggaggtcgtggct	6	11	17	7	1	2	0	0	0	2	0	3	3	2	3	0	7	0	1	0	7	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:34042180G>A	ENST00000389232.4	+	56	8270	c.8199_splice	c.e56-1	p.G2734_splice	RYR3_ENST00000415757.3_Splice_Site_p.G2734_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2734	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGACACAGGGAATGGTGGA	0.517													4	19					0	0	0	0	A	34042180	G	A	34042180	5	1	494	1	0	0	0	0	0	0	1	0	13855	1246	43	4	8422	4	RYR3	15	34042180	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1112637	34042180	68489212	386	95851											
PLCB2	5330	broad.mit.edu	37	chr15	40591145	40591145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggtgctccttcgtcatgTagggtttggccttagcatgg	5	14	13	9	1	2	0	2	0	0	0	4	0	3	0	2	4	2	4	2	4	2	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:40591145T>C	ENST00000260402.3	-	9	953	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	PLCB2_ENST00000456256.2_Missense_Mutation_p.Y235C|PLCB2_ENST00000557821.1_Missense_Mutation_p.Y235C	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	235					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTTCGTCATGTAGGGTTTGGC	0.572													54	102					0	0	0	0	C	40591145	T	C	40591145	3	2	494	1	0	0	0	0	1	0	0	0	12100	1638	57	5	2949	5	PLCB2	15	40591145	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	6548965	40591145	61940247	387	95852											
MFAP1	4236	broad.mit.edu	37	chr15	44097352	44097352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcgtaccccagctgcCttttgtttgaagaactttgt	8	15	7	11	1	1	2	0	1	1	1	2	2	1	2	3	0	4	3	3	0	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:44097352C>G	ENST00000267812.3	-	9	1492	c.1260G>C	c.(1258-1260)aaG>aaC	p.K420N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	420						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCCCAGCTGCCTTTTGTTTGA	0.498													30	114					0	0	0	0	G	44097352	C	G	44097352	3	3	494	1	0	0	0	0	1	0	0	0	9582	680	24	4	63	4	MFAP1	15	44097352	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3506207	44097352	58434040	388	95853											
COPS2	9318	broad.mit.edu	37	chr15	49429627	49429628	+	Frame_Shift_Del	DEL	AA	AA	-																															tttcatagaattcctgcagtAaatccatctgacataaaaaa																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:49429627_49429628delAA	ENST00000388901.5	-	5	452_453	c.379_380delTT	c.(379-381)afs	p.L128fs	COPS2_ENST00000299259.6_Frame_Shift_Del_p.L135fs|COPS2_ENST00000542928.1_Frame_Shift_Del_p.L64fs	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	128					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTCCTGCAGTAAATCCATCTGA	0.302													16	227	---	---	---	---					-	49429628	AA	-	49429627	7	5	494	1	0	1	0	1	0	0	0	0	3763	372	13	0	987	0	COPS2	15	49429627	Frame_Shift_Del	DEL	AA	TCGA-UF-A71D-01A-12D-A34J-08	5332275	49429627	53101765	389	95854											
PRTG	283659	broad.mit.edu	37	chr15	55970166	55970166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtctggctctagataaaaTagatccttggctattctcag	11	13	8	9	0	3	2	1	0	3	2	5	2	4	2	1	2	0	2	1	2	5	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:55970166T>C	ENST00000389286.4	-	8	1257	c.1210A>G	c.(1210-1212)Att>Gtt	p.I404V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	404	Ig-like 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTAGATAAAATAGATCCTTGG	0.373													28	66					0	0	0	0	C	55970166	T	C	55970166	3	2	494	1	0	0	0	0	1	0	0	0	12717	1406	49	5	2294	5	PRTG	15	55970166	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	6540539	55970166	46561226	390	95855											
CA12	771	broad.mit.edu	37	chr15	63620322	63620322	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagtcctgccgcagtacaGacttgcacttaaaaggggag	11	8	11	11	1	1	1	1	0	0	1	2	2	2	2	2	2	3	3	2	2	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:63620322G>C	ENST00000178638.3	-	9	1322	c.882C>G	c.(880-882)gtC>gtG	p.V294V	CA12_ENST00000344366.3_Intron|CA12_ENST00000422263.2_Intron|CA12_ENST00000560666.1_Intron	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	294					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	CCGCAGTACAGACTTGCACTT	0.527													9	43					0	0	0	0	C	63620322	G	C	63620322	2	2	494	1	0	0	0	0	0	0	0	1	2538	929	33	2		2	CA12	15	63620322	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	7650156	63620322	38911070	391	95856											
USP3	9960	broad.mit.edu	37	chr15	63882861	63882861	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtcttttgcctttacaggGttggttctggacattacaca	7	16	10	8	0	2	0	0	0	2	0	2	1	2	1	1	4	3	2	1	4	2	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:63882861G>A	ENST00000268049.7	+	16	1657	c.1331_splice	c.e16-1	p.V445_splice	USP3_ENST00000558218.1_3'UTR|USP3_ENST00000559711.1_Splice_Site_p.V378_splice|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000540797.1_Splice_Site_p.V423_splice|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3_ENST00000539772.1_Splice_Site_p.V218_splice|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000380324.3_Splice_Site_p.V467_splice|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000558285.1_Splice_Site_p.V450_splice			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	467					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CCTTTACAGGGTTGGTTCTGG	0.388													31	106					0	0	0	0	A	63882861	G	A	63882861	5	1	494	1	0	0	0	0	0	0	1	0	17156	1275	44	4	1457	4	USP3	15	63882861	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	262539	63882861	38648531	392	95857											
IREB2	3658	broad.mit.edu	37	chr15	78768539	78768539	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttatatagcacctcaggCaagtaggagtggctggaaag	12	9	12	8	0	1	0	1	0	0	0	2	2	2	2	2	4	1	4	2	4	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:78768539C>T	ENST00000258886.8	+	9	1182	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	IREB2_ENST00000560440.1_3'UTR	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	345							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GCACCTCAGGCAAGTAGGAGT	0.333													11	105					0	0	0	0	T	78768539	C	T	78768539	4	4	494	1	0	0	0	0	0	1	0	0	7879	711	25	4	1067	4	IREB2	15	78768539	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	14885678	78768539	23762853	393	95858											
IL16	3603	broad.mit.edu	37	chr15	81592332	81592332	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttctggactcttggggCgaggggctgcacccactctt	4	12	14	11	1	3	0	0	0	3	0	3	2	3	1	1	6	1	3	1	6	0	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:81592332C>A	ENST00000394660.2	+	14	3025	c.2665C>A	c.(2665-2667)Cga>Aga	p.R889R	IL16_ENST00000394652.2_Silent_p.R188R|IL16_ENST00000302987.4_Silent_p.R889R|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	889			R -> Q (in dbSNP:rs17875512).		immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACTCTTGGGGCGAGGGGCTGC	0.622													26	67					3.28513e-13	3.76951e-13	1	0	A	81592332	C	A	81592332	2	1	494	1	0	0	0	0	0	0	0	1	7686	760	27	3		3	IL16	15	81592332	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2823793	81592332	20939060	394	95859											
IL16	3603	broad.mit.edu	37	chr15	81592669	81592669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatcggctgtcatgaaatCcttgctgtgccttccatctt	6	15	8	12	1	3	1	2	1	1	0	6	1	5	1	3	1	2	2	3	1	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:81592669C>A	ENST00000394660.2	+	14	3362	c.3002C>A	c.(3001-3003)tCc>tAc	p.S1001Y	IL16_ENST00000394652.2_Missense_Mutation_p.S300Y|IL16_ENST00000302987.4_Missense_Mutation_p.S1001Y	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1001					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCATGAAATCCTTGCTGTGC	0.522													34	74					6.90743e-12	7.83702e-12	1	0	A	81592669	C	A	81592669	3	1	494	1	0	0	0	0	1	0	0	0	7686	855	30	2	3052	2	IL16	15	81592669	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	337	81592669	20938723	395	95860											
AGBL1	123624	broad.mit.edu	37	chr15	86800203	86800203	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgcctatgccttcccGgtccccgggtgcatcaccac	6	8	10	17	2	1	0	1	0	0	0	3	0	3	0	6	2	4	2	6	2	1	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:86800203G>T	ENST00000441037.2	+	7	812	c.717G>T	c.(715-717)ccG>ccT	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	239					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507													16	41					3.45872e-05	3.64486e-05	1	0	T	86800203	G	T	86800203	2	4	494	1	0	0	0	0	0	0	0	1	375	1103	39	3		3	AGBL1	15	86800203	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5207534	86800203	15731189	396	95861											
PDIA2	64714	broad.mit.edu	37	chr16	335009	335009	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggacactgtggttctcttCaagaaggtaggtcaggccca	11	9	12	9	0	3	1	2	0	1	1	4	2	3	2	1	5	0	2	1	5	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:335009C>T	ENST00000219406.6	+	4	690	c.672C>T	c.(670-672)ttC>ttT	p.F224F	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.F221F	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	224					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGTTCTCTTCAAGAAGGTAG	0.632													56	55					0	0	0	0	T	335009	C	T	335009	2	4	494	1	0	0	0	0	0	0	0	1	11739	825	29	2		2	PDIA2	16	335009	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		335009	90019744	397	95862											
CASKIN1	57524	broad.mit.edu	37	chr16	2228994	2228994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctccagtttctgccGggcgctgtcccctggcgagg	2	11	13	15	3	2	0	0	0	2	0	5	1	4	0	5	3	1	2	5	3	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:2228994G>A	ENST00000343516.6	-	19	4200	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1370					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGTTTCTGCCGGGCGCTGTCC	0.806													3	2					0	0	0	0	A	2228994	G	A	2228994	3	1	494	1	0	0	0	0	1	0	0	0	2691	1115	39	1	195	1	CASKIN1	16	2228994	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1893985	2228994	88125759	398	95863											
CREBBP	1387	broad.mit.edu	37	chr16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggtaaacggctgtgcGgaggcaacgtggccggaaga	10	6	16	9	4	1	1	1	0	0	1	1	3	1	3	1	6	3	3	1	6	4	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						16	41					0	0	0	0	A	3788618	G	A	3788618	3	1	494	1	0	0	0	0	1	0	0	0	3891	1116	39	1	3016	1	CREBBP	16	3788618	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1559624	3788618	86566135	399	95864											
ABCC1	4363	broad.mit.edu	37	chr16	16216017	16216017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggcctattaccccagCatcgtggccaacaggtgggc	10	6	12	13	1	0	1	0	0	0	1	1	1	0	1	4	4	3	1	4	4	4	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:16216017C>T	ENST00000399408.2	+	25	3781	c.3606C>T	c.(3604-3606)agC>agT	p.S1202S	ABCC1_ENST00000346370.5_Silent_p.S1136S|ABCC1_ENST00000349029.5_Silent_p.S1077S|ABCC1_ENST00000351154.5_Silent_p.S1133S|ABCC1_ENST00000345148.5_Silent_p.S1192S|ABCC1_ENST00000399410.3_Silent_p.S1192S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1192	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATTACCCCAGCATCGTGGCCA	0.602													20	38					0	0	0	0	T	16216017	C	T	16216017	2	4	494	1	0	0	0	0	0	0	0	1	49	709	25	4		4	ABCC1	16	16216017	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	12427399	16216017	74138736	400	95865											
TMC7	79905	broad.mit.edu	37	chr16	19070773	19070773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcattgccttagctggagCacacaaacgggtggtcatcc	9	10	10	12	1	2	0	2	0	0	0	3	1	3	1	2	3	4	2	2	3	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:19070773C>G	ENST00000421369.3	+	15	2291	c.1733C>G	c.(1732-1734)gCa>gGa	p.A578G	TMC7_ENST00000569532.1_Missense_Mutation_p.A688G|TMC7_ENST00000304381.5_Missense_Mutation_p.A688G	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	688						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTAGCTGGAGCACACAAACGG	0.502													22	114					0	0	0	0	G	19070773	C	G	19070773	3	3	494	1	0	0	0	0	1	0	0	0	16084	710	25	4	2121	4	TMC7	16	19070773	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2854756	19070773	71283980	401	95866											
TMC7	79905	broad.mit.edu	37	chr16	19070845	19070845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagctccagagggtcatGgctggggacatttacccagg	9	8	14	10	0	1	1	1	0	0	1	2	2	2	2	2	5	2	3	2	5	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:19070845G>T	ENST00000569532.1	+	15	2265	c.2135G>T	c.(2134-2136)tGg>tTg	p.W712L	TMC7_ENST00000421369.3_Intron|TMC7_ENST00000304381.5_Intron			Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGAGGGTCATGGCTGGGGACA	0.522													10	86					3.86212e-05	4.04191e-05	1	0	T	19070845	G	T	19070845	3	4	494	1	0	0	0	0	1	0	0	0	16084	1363	47	4		4	TMC7	16	19070845	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	72	19070845	71283908	402	95867											
CACNG3	10368	broad.mit.edu	37	chr16	24373118	24373118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctacagttccacaattcCacacccaaagagttcaaaga	15	10	4	12	0	2	2	1	0	1	2	4	2	4	2	3	0	1	2	3	0	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:24373118C>T	ENST00000005284.3	+	4	2084	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	294					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCCACAATTCCACACCCAAAG	0.567													16	81					0	0	0	0	T	24373118	C	T	24373118	2	4	494	1	0	0	0	0	0	0	0	1	2583	581	21	4		4	CACNG3	16	24373118	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5302273	24373118	65981635	403	95868											
GTF3C1	2975	broad.mit.edu	37	chr16	27549199	27549199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcattgtaatcagccCgtttttgttcaaaatttttc	9	17	7	8	1	2	0	2	0	0	0	3	1	2	1	1	1	2	4	1	1	3	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:27549199C>T	ENST00000356183.4	-	4	673	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G220R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	220						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTAATCAGCCCGTTTTTGTTC	0.463													27	108					0	0	0	0	T	27549199	C	T	27549199	3	4	494	1	0	0	0	0	1	0	0	0	6922	652	23	1	5807	1	GTF3C1	16	27549199	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3176081	27549199	62805554	404	95869											
MMP2	4313	broad.mit.edu	37	chr16	55513486	55513486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacgccgccgccgcgccgtCgcccatcatcaagttccccg	5	5	9	22	8	2	0	2	0	0	0	4	0	3	0	8	0	0	1	8	0	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:55513486C>T	ENST00000219070.4	+	1	604	c.95C>T	c.(94-96)tCg>tTg	p.S32L	MMP2_ENST00000570308.1_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	32					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GCCGCGCCGTCGCCCATCATC	0.657													6	32					0	0	0	0	T	55513486	C	T	55513486	3	4	494	1	0	0	0	0	1	0	0	0	9727	893	31	1	97	1	MMP2	16	55513486	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	27964287	55513486	34841267	405	95870											
SLC6A2	6530	broad.mit.edu	37	chr16	55734117	55734117	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactacatcttcccgcccTgggccaactgggtggggtgg	6	8	14	13	2	1	0	0	0	1	0	2	1	2	0	3	5	2	0	3	5	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:55734117T>A	ENST00000379906.2	+	12	1912	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	SLC6A2_ENST00000567238.1_Missense_Mutation_p.W448R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.W553R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W508R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W553R|SLC6A2_ENST00000219833.8_Missense_Mutation_p.W553R|SLC6A2_ENST00000414754.3_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	553					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTCCCGCCCTGGGCCAACTG	0.562													32	110					0	0	0	0	A	55734117	T	A	55734117	3	1	494	1	0	0	0	0	1	0	0	0	14771	1580	55	5	1794	5	SLC6A2	16	55734117	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	220631	55734117	34620636	406	95871											
DOK4	55715	broad.mit.edu	37	chr16	57509780	57509780	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accttggggcagccccggagGcacaccgacttctcatctgg	7	7	12	15	2	2	0	1	0	2	0	3	2	2	1	4	5	1	2	4	5	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:57509780G>T	ENST00000566936.1	-	2	453	c.156C>A	c.(154-156)tgC>tgA	p.C52*	DOK4_ENST00000340099.4_Nonsense_Mutation_p.C52*|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Nonsense_Mutation_p.C52*			Q8TEW6	DOK4_HUMAN	docking protein 4	52	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						AGCCCCGGAGGCACACCGACT	0.642													13	37					0.000308642	0.000319703	1	0	T	57509780	G	T	57509780	4	4	494	1	0	0	0	0	0	1	0	0	4735	1195	42	4	852	4	DOK4	16	57509780	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1775663	57509780	32844973	407	95872											
CKLF	51192	broad.mit.edu	37	chr16	66599843	66599843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacggggcccttatttacCggaagcttctgttcaatccc	7	11	9	14	3	2	0	1	0	1	0	3	2	3	1	4	3	2	2	4	3	4	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:66599843C>T	ENST00000264001.4	+	4	537	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000532838.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000351137.4_Missense_Mutation_p.R77W|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000345436.4_Missense_Mutation_p.R98W|CKLF_ENST00000362093.4_Missense_Mutation_p.R45W	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CCTTATTTACCGGAAGCTTCT	0.428													61	118					0	0	0	0	T	66599843	C	T	66599843	3	4	494	1	0	0	0	0	1	0	0	0	3477	643	23	1	402	1	CKLF	16	66599843	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	9090063	66599843	23754910	408	95873											
FHOD1	29109	broad.mit.edu	37	chr16	67271978	67271979	+	Frame_Shift_Del	DEL	TG	TG	-																															cagccactgaatagtgtcacTgtgggccaccacccccagca																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:67271978_67271979delTG	ENST00000258201.4	-	6	847_848	c.600_601delCA	c.(598-603)cagtfs	p.HS200fs	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	200	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATAGTGTCACTGTGGGCCACCA	0.584													24	103	---	---	---	---					-	67271979	TG	-	67271978	7	5	494	1	0	1	0	1	0	0	0	0	5927	1580	55	0	2961	0	FHOD1	16	67271978	Frame_Shift_Del	DEL	TG	TCGA-UF-A71D-01A-12D-A34J-08	672135	67271978	23082775	409	95874											
RANBP10	57610	broad.mit.edu	37	chr16	67768910	67768910	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgtccacaatctccccAggtgtctgcaggcctacggt	6	10	11	14	2	2	0	0	0	2	0	4	0	3	0	4	4	2	1	4	4	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:67768910A>C	ENST00000317506.3	-	6	742	c.627T>G	c.(625-627)ccT>ccG	p.P209P	RANBP10_ENST00000425512.2_Silent_p.P77P|RANBP10_ENST00000602677.1_Silent_p.P209P|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Silent_p.P153P|RANBP10_ENST00000411657.2_Silent_p.P92P	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	209	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CAATCTCCCCAGGTGTCTGCA	0.597													16	43					0	0	0	0	C	67768910	A	C	67768910	2	2	494	1	0	0	0	0	0	0	0	1	13108	175	7	5		5	RANBP10	16	67768910	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	496932	67768910	22585843	410	95875											
HYDIN	54768	broad.mit.edu	37	chr16	70917990	70917990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggaaggaatggagccaaacCcagggtacacggtgaacatg	14	4	14	9	2	0	1	0	1	0	0	0	4	0	4	2	5	4	1	2	5	5	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:70917990C>A	ENST00000393567.2	-	59	9962	c.9812G>T	c.(9811-9813)gGg>gTg	p.G3271V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3271										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGCCAAACCCAGGGTACAC	0.567													5	11					1	1	1	0	A	70917990	C	A	70917990	3	1	494	1	0	0	0	0	1	0	0	0	7520	623	22	4	5665	4	HYDIN	16	70917990	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3149080	70917990	19436763	411	95876											
CNTNAP4	85445	broad.mit.edu	37	chr16	76528820	76528820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcagatggaacccctctGagttggtgggtaggaagaac	10	10	13	8	0	2	3	1	1	1	2	2	5	2	5	2	4	2	2	2	4	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:76528820G>A	ENST00000307431.8	+	15	2476	c.2091G>A	c.(2089-2091)ctG>ctA	p.L697L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L649L|CNTNAP4_ENST00000476707.1_Silent_p.L701L|CNTNAP4_ENST00000478060.1_Silent_p.L625L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	698	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAACCCCTCTGAGTTGGTGGG	0.408													35	106					0	0	0	0	A	76528820	G	A	76528820	2	1	494	1	0	0	0	0	0	0	0	1	3679	1277	45	2		2	CNTNAP4	16	76528820	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5610830	76528820	13825933	412	95877											
CMIP	80790	broad.mit.edu	37	chr16	81730186	81730186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcatgcctgctgagcGtgcgggccggcaaagatggc	7	7	14	13	3	1	2	1	1	0	1	2	2	2	2	3	3	4	2	3	3	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:81730186G>T	ENST00000537098.3	+	14	1624	c.1552G>T	c.(1552-1554)Gtg>Ttg	p.V518L	CMIP_ENST00000539778.2_Missense_Mutation_p.V424L|CMIP_ENST00000398040.4_Missense_Mutation_p.V365L|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	484						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CCTGCTGAGCGTGCGGGCCGG	0.622													13	24					0.000219431	0.000228465	1	0	T	81730186	G	T	81730186	3	4	494	1	0	0	0	0	1	0	0	0	3608	1145	40	3	1628	3	CMIP	16	81730186	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5201366	81730186	8624567	413	95878											
JPH3	57338	broad.mit.edu	37	chr16	87636846	87636846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggccatggcgtctgcaccGgccccaagggccaaggcgaa	9	3	14	15	4	1	0	0	0	1	0	1	1	1	0	5	5	1	1	5	5	3	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:87636846G>A	ENST00000284262.2	+	1	336	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	32	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGTCTGCACCGGCCCCAAGGG	0.647													4	99					0	0	0	0	A	87636846	G	A	87636846	3	1	494	1	0	0	0	0	1	0	0	0	8015	1116	39	1	96	1	JPH3	16	87636846	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5906660	87636846	2717907	414	95879											
BANP	54971	broad.mit.edu	37	chr16	88052149	88052149	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaactgccgcacggccgaGaagatggcgctcacgctgct	9	5	12	15	5	1	2	1	0	0	2	1	3	1	2	3	2	3	4	3	2	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88052149G>A	ENST00000393207.1	+	7	968	c.747G>A	c.(745-747)gaG>gaA	p.E249E	BANP_ENST00000355022.4_Silent_p.E218E|BANP_ENST00000538234.1_Silent_p.E257E|BANP_ENST00000479780.2_Silent_p.E218E|BANP_ENST00000286122.7_Silent_p.E249E|BANP_ENST00000393208.2_Silent_p.E218E|BANP_ENST00000355163.5_Silent_p.E224E	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	249	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCACGGCCGAGAAGATGGCGC	0.652													14	43					0	0	0	0	A	88052149	G	A	88052149	2	1	494	1	0	0	0	0	0	0	0	1	1314	933	33	2		2	BANP	16	88052149	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	415303	88052149	2302604	415	95880											
MVD	4597	broad.mit.edu	37	chr16	88721197	88721197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacggcattggggcccgCgtcaaaggtgtacgccacct	8	7	13	13	4	2	0	2	0	0	0	2	1	2	0	3	4	1	2	3	4	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88721197C>T	ENST00000301012.3	-	8	945	c.916G>A	c.(916-918)Gcg>Acg	p.A306T		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	306					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGGGGCCCGCGTCAAAGGTG	0.622													16	42					0	0	0	0	T	88721197	C	T	88721197	3	4	494	1	0	0	0	0	1	0	0	0	10064	768	27	1	298	1	MVD	16	88721197	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	669048	88721197	1633556	416	95881											
APRT	353	broad.mit.edu	37	chr16	88876924	88876924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccagtccaagctcctgGgccagggaggggccaaagag	10	3	15	13	0	0	1	0	0	0	1	2	2	2	2	5	4	2	1	5	4	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88876924G>A	ENST00000378364.3	-	3	272	c.228C>T	c.(226-228)gcC>gcT	p.A76A	APRT_ENST00000563655.1_Intron|APRT_ENST00000426324.2_Silent_p.A76A	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	76					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAAGCTCCTGGGCCAGGGAGG	0.637													6	32					0	0	0	0	A	88876924	G	A	88876924	2	1	494	1	0	0	0	0	0	0	0	1	821	1219	43	4		4	APRT	16	88876924	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	155727	88876924	1477829	417	95882											
OR1A2	26189	broad.mit.edu	37	chr17	3101525	3101525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtctattcaaagccttctGcacctgtggctcccacctca	8	11	7	15	0	4	0	2	0	2	0	5	1	5	0	4	1	2	2	4	1	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:3101525G>C	ENST00000381951.1	+	1	713	c.713G>C	c.(712-714)tGc>tCc	p.C238S		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAAGCCTTCTGCACCTGTGGC	0.443													56	172					0	0	0	0	C	3101525	G	C	3101525	3	2	494	1	0	0	0	0	1	0	0	0	11021	1319	46	4	715	4	OR1A2	17	3101525	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08		3101525	78093685	418	95883											
TP53	7157	broad.mit.edu	37	chr17	7579437	7579437	+	Frame_Shift_Del	DEL	C	C	-																															ggagggggctggtgcaggggCcgccggtgtaggagctgctg																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:7579437delC	ENST00000420246.2	-	4	382	c.250delG	c.(250-252)ccfs	p.A84fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.A84fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.A84fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.A84fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	84	Interaction with WWOX.		A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A83fs*39(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A83fs*35(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)		GGTGCAGGGGCCGCCGGTGTA	0.617		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)			85	65	---	---	---	---					-	7579437	C	-	7579437	7	5	494	1	0	1	0	1	0	0	0	0	16476	739	26	0	1052	0	TP53	17	7579437	Frame_Shift_Del	DEL	C	TCGA-UF-A71D-01A-12D-A34J-08	4477912	7579437	73615773	419	95884											
TMEM88	92162	broad.mit.edu	37	chr17	7758805	7758805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgcaccgcgcacctgcggGaccccggtttcacggcccta	5	7	11	18	5	1	0	1	0	0	0	1	1	1	1	5	3	2	3	5	3	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:7758805G>A	ENST00000301599.6	+	2	263	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	85						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				GCACCTGCGGGACCCCGGTTT	0.692													17	41					0	0	0	0	A	7758805	G	A	7758805	3	1	494	1	0	0	0	0	1	0	0	0	16306	1174	41	2	259	2	TMEM88	17	7758805	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	179368	7758805	73436405	420	95885											
MYH8	4626	broad.mit.edu	37	chr17	10318495	10318495	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtggattctaatgaatttaCccttgaaaagaatatttagt	15	15	7	4	0	1	3	0	2	1	1	1	4	1	4	1	1	1	0	1	1	8	8			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10318495C>T	ENST00000403437.2	-	9	837	c.741_splice	c.e9-1	p.G248_splice	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	248	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AATGAATTTACCCTTGAAAAG	0.363									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				35	135					0	0	0	0	T	10318495	C	T	10318495	5	4	494	1	0	0	0	0	0	0	1	0	10111	521	18	4	5198	4	MYH8	17	10318495	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2559690	10318495	70876715	421	95886											
MYH4	4622	broad.mit.edu	37	chr17	10346788	10346788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccgttccttggcctcCtccagctcgtgctggagctt	3	12	10	16	2	1	0	1	0	0	0	5	1	4	1	5	2	4	4	5	2	0	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10346788C>T	ENST00000255381.2	-	40	5834	c.5724G>A	c.(5722-5724)gaG>gaA	p.E1908E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTGGCCTCCTCCAGCTCGT	0.468													54	173					0	0	0	0	T	10346788	C	T	10346788	2	4	494	1	0	0	0	0	0	0	0	1	10107	680	24	4		4	MYH4	17	10346788	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	28293	10346788	70848422	422	95887											
MYH2	4620	broad.mit.edu	37	chr17	10432101	10432101	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttctgcttcactcgcTgcaggttgtcaatctgctcc	5	13	8	15	1	4	0	2	0	2	0	6	0	5	0	2	1	4	6	2	1	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10432101T>A	ENST00000245503.5	-	27	4034	c.3650A>T	c.(3649-3651)cAg>cTg	p.Q1217L	MYH2_ENST00000397183.2_Missense_Mutation_p.Q1217L|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1217					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCACTCGCTGCAGGTTGTC	0.527													55	114					0	0	0	0	A	10432101	T	A	10432101	3	1	494	1	0	0	0	0	1	0	0	0	10105	1580	55	5	2231	5	MYH2	17	10432101	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	85313	10432101	70763109	423	95888											
DNAH9	1770	broad.mit.edu	37	chr17	11642350	11642350	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagaatctcaagtctctcTtcaggtgagtgtcagttctg	9	13	10	9	0	6	2	3	1	4	1	8	3	6	2	0	1	0	1	0	1	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:11642350T>C	ENST00000262442.3	+	29	6036	c.5968T>C	c.(5968-5970)Ttc>Ctc	p.F1990L	DNAH9_ENST00000454412.2_Missense_Mutation_p.F1990L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1990	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGTCTCTCTTCAGGTGAGT	0.443													13	39					0	0	0	0	C	11642350	T	C	11642350	3	2	494	1	0	0	0	0	1	0	0	0	4644	1609	56	5	6082	5	DNAH9	17	11642350	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	1210249	11642350	69552860	424	95889											
RAI1	10743	broad.mit.edu	37	chr17	17698485	17698485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctcagcggacagcgcCaacccctttgcctggccaga	8	5	11	17	2	1	1	1	0	0	1	1	2	1	2	6	2	5	1	6	2	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:17698485C>T	ENST00000353383.1	+	3	2692	c.2223C>T	c.(2221-2223)gcC>gcT	p.A741A	RAI1_ENST00000261641.6_Silent_p.A741A	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	741						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGGACAGCGCCAACCCCTTTG	0.622													20	82					0	0	0	0	T	17698485	C	T	17698485	2	4	494	1	0	0	0	0	0	0	0	1	13089	581	21	4		4	RAI1	17	17698485	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6056135	17698485	63496725	425	95890											
LGALS9B	284194	broad.mit.edu	37	chr17	20363739	20363739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggagacccccttggatagtCccagaaaaggggacggcctg	10	6	14	11	1	0	2	0	0	0	2	1	5	1	4	4	5	0	0	4	5	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:20363739C>T	ENST00000423676.3	-	2	120	c.57G>A	c.(55-57)ggG>ggA	p.G19G	LGALS9B_ENST00000324290.5_Silent_p.G19G			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	19	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTTGGATAGTCCCAGAAAAGG	0.587													14	90					0	0	0	0	T	20363739	C	T	20363739	2	4	494	1	0	0	0	0	0	0	0	1	8803	842	30	2		2	LGALS9B	17	20363739	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2665254	20363739	60831471	426	95891											
NEK8	284086	broad.mit.edu	37	chr17	27067904	27067904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtcccccaccagcaagtgGaggaggccctgagcttcaca	9	6	11	15	0	1	1	1	1	0	0	2	3	2	3	4	3	2	2	4	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:27067904G>A	ENST00000268766.6	+	12	1667	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	545						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCAGCAAGTGGAGGAGGCCCT	0.612													14	51					0	0	0	0	A	27067904	G	A	27067904	3	1	494	1	0	0	0	0	1	0	0	0	10400	1175	41	2	1679	2	NEK8	17	27067904	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6704165	27067904	54127306	427	95892											
AP2B1	163	broad.mit.edu	37	chr17	33977578	33977578	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatcctgaccttcgagaccgGggctatatttattggcgcct	8	12	10	11	3	0	2	0	1	0	1	2	3	1	2	4	3	0	1	4	3	4	6			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:33977578G>C	ENST00000262325.7	+	13	2119	c.1566G>C	c.(1564-1566)cgG>cgC	p.R522R	AP2B1_ENST00000592545.1_Silent_p.R484R|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Silent_p.R522R|AP2B1_ENST00000538556.1_Silent_p.R465R|AP2B1_ENST00000537622.2_Silent_p.R522R|AP2B1_ENST00000312678.8_Silent_p.R522R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	522					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTCGAGACCGGGGCTATATTT	0.458													43	95					0	0	0	0	C	33977578	G	C	33977578	2	2	494	1	0	0	0	0	0	0	0	1	742	1219	43	4		4	AP2B1	17	33977578	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6909674	33977578	47217632	428	95893											
CCL16	6360	broad.mit.edu	37	chr17	34308390	34308390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggactcacttggctggcTgcgagaagccgaagtaatga	11	8	14	8	2	1	2	1	1	0	1	1	5	1	3	1	3	2	3	1	3	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:34308390T>A	ENST00000293275.3	-	1	142	c.67A>T	c.(67-69)Agc>Tgc	p.S23C		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	23					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGGCTGGCTGCGAGAAGCC	0.587													11	18					0	0	0	0	A	34308390	T	A	34308390	3	1	494	1	0	0	0	0	1	0	0	0	2914	1580	55	5	307	5	CCL16	17	34308390	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	330812	34308390	46886820	429	95894											
CASC3	22794	broad.mit.edu	37	chr17	38319075	38319075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaagtcccgacaggagCtcattgctctttatggttat	9	12	8	12	1	2	0	1	0	1	0	3	2	3	1	3	2	2	3	3	2	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:38319075C>T	ENST00000264645.7	+	6	932	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	236	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCGACAGGAGCTCATTGCTCT	0.512													23	82					0	0	0	0	T	38319075	C	T	38319075	3	4	494	1	0	0	0	0	1	0	0	0	2686	797	28	4	728	4	CASC3	17	38319075	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4010685	38319075	42876135	430	95895											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39190831	39190831	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgccacagccagttccGcaggagctggtctggcagca	9	6	12	14	1	1	0	0	0	1	0	2	1	2	1	4	3	4	5	4	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39190831G>T	ENST00000344363.5	-	1	276	c.243C>A	c.(241-243)tgC>tgA	p.C81*		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	91			Missing (in allele KAP1.9).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCCAGTTCCGCAGGAGCTGG	0.627													37	51					7.04047e-22	8.77529e-22	1	0	T	39190831	G	T	39190831	4	4	494	1	0	0	0	0	0	1	0	0	8555	1079	38	3	264	3	KRTAP1-3	17	39190831	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	871756	39190831	42004379	431	95896											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240644	39240644	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgtgtgctgccaaccCacctgctgtcgccccacctg	5	9	9	18	1	1	0	0	0	1	0	2	0	1	0	6	0	4	2	6	0	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39240644C>A	ENST00000391417.4	+	1	186	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GCTGCCAACCCACCTGCTGTC	0.647													18	81					6.33239e-15	7.36352e-15	1	0	A	39240644	C	A	39240644	2	1	494	1	0	0	0	0	0	0	0	1	8608	581	21	4		4	KRTAP4-7	17	39240644	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	49813	39240644	41954566	432	95897											
KRT33B	3884	broad.mit.edu	37	chr17	39522752	39522752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcttgagggacagcagCtcctccttcagggactccat	7	11	10	13	0	2	1	1	1	1	0	5	3	5	3	3	2	3	3	3	2	0	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39522752C>T	ENST00000251646.3	-	3	607	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	186	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGGACAGCAGCTCCTCCTTCA	0.562													7	73					0	0	0	0	T	39522752	C	T	39522752	2	4	494	1	0	0	0	0	0	0	0	1	8522	796	28	4		4	KRT33B	17	39522752	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	282108	39522752	41672458	433	95898											
KRT36	8689	broad.mit.edu	37	chr17	39645834	39645834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttcaggaactgcatagtctCcttctcgctgccgttgaagg	7	12	11	11	2	3	1	1	1	2	0	5	2	3	2	2	2	3	4	2	2	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39645834C>T	ENST00000393986.2	-	2	345	c.133G>A	c.(133-135)Gag>Aag	p.E45K	KRT36_ENST00000328119.6_Missense_Mutation_p.E95K			O76013	KRT36_HUMAN	keratin 36	95	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGCATAGTCTCCTTCTCGCTG	0.627													35	117					0	0	0	0	T	39645834	C	T	39645834	3	4	494	1	0	0	0	0	1	0	0	0	8525	864	30	2	1148	2	KRT36	17	39645834	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	123082	39645834	41549376	434	95899											
KRT9	3857	broad.mit.edu	37	chr17	39725676	39725676	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcagcccactctgctcAcctgagtctcatattgattc	8	12	8	13	0	3	2	2	2	2	0	5	2	3	2	2	1	2	2	2	1	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39725676A>G	ENST00000246662.4	-	4	1110		c.e4+1		KRT9_ENST00000588431.1_Splice_Site	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9						intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CACTCTGCTCACCTGAGTCTC	0.502													8	44					0	0	0	0	G	39725676	A	G	39725676	5	3	494	1	0	0	0	0	0	0	1	0	8553	173	6	5	841	5	KRT9	17	39725676	Splice_Site	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	79842	39725676	41469534	435	95900											
KLHL11	55175	broad.mit.edu	37	chr17	40011269	40011270	+	Frame_Shift_Ins	INS	-	-	TC																															ttaaaaagttcttcaaagtaINStctctctctctcttcagcat																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:40011269_40011270insTC	ENST00000319121.3	-	2	909_910	c.849_850insGA	c.(847-852)agacttfs	p.L284fs		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	284	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCTTCAAAGTATCTCTCTCTCT	0.401													42	98	---	---	---	---					TC	40011270	-	TC	40011269	7	5	494	1	0	1	1	0	0	0	0	0	8419	449	16	0	1280	0	KLHL11	17	40011269	Frame_Shift_Ins	INS	-	TCGA-UF-A71D-01A-12D-A34J-08	285593	40011269	41183941	436	95901											
WFIKKN2	124857	broad.mit.edu	37	chr17	48918183	48918183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcactctgcttcacgtgGactgggcatgcccctgcccc	5	9	11	16	1	3	0	2	0	1	0	3	1	3	1	4	3	3	2	4	3	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:48918183G>T	ENST00000311378.4	+	2	2062	c.1534G>T	c.(1534-1536)Gac>Tac	p.D512Y	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.D419Y	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	512	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTCACGTGGACTGGGCATG	0.627													17	32					6.94344e-10	7.66304e-10	1	0	T	48918183	G	T	48918183	3	4	494	1	0	0	0	0	1	0	0	0	17455	1174	41	2	1540	2	WFIKKN2	17	48918183	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	8906914	48918183	32277027	437	95902											
SLC16A5	9121	broad.mit.edu	37	chr17	73096393	73096393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacctcccgagacacctgCacttggctgcctggctgcat	6	8	10	17	1	0	1	0	0	0	1	1	2	1	1	5	2	3	4	5	2	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:73096393C>T	ENST00000450736.2	+	4	1050	c.635C>T	c.(634-636)gCa>gTa	p.A212V	SLC16A5_ENST00000580123.1_Missense_Mutation_p.A212V|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A212V|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A252V			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	212					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GAGACACCTGCACTTGGCTGC	0.627													9	45					0	0	0	0	T	73096393	C	T	73096393	3	4	494	1	0	0	0	0	1	0	0	0	14499	710	25	4	645	4	SLC16A5	17	73096393	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	24178210	73096393	8098817	438	95903											
EMILIN2	84034	broad.mit.edu	37	chr18	2891730	2891730	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaggagatgaacgggtCatgatggaattaaaccacct	13	8	13	7	1	2	3	2	2	0	1	2	5	2	4	2	4	2	0	2	4	4	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:2891730C>A	ENST00000254528.3	+	4	1764	c.1605C>A	c.(1603-1605)gtC>gtA	p.V535V		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	535					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ATGAACGGGTCATGATGGAAT	0.532													20	96					1.40151e-16	1.65188e-16	1	0	A	2891730	C	A	2891730	2	1	494	1	0	0	0	0	0	0	0	1	5132	813	29	2		2	EMILIN2	18	2891730	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		2891730	75185518	439	95904											
EPB41L3	23136	broad.mit.edu	37	chr18	5398133	5398133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcttttccccagaagActgcttagtctgagtgaaca	11	11	9	10	0	1	5	0	3	1	2	2	5	2	5	2	0	3	2	2	0	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:5398133A>G	ENST00000341928.2	-	17	2699	c.2359T>C	c.(2359-2361)Tct>Cct	p.S787P	EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92P|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84P|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618P|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787P	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	787	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			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						TCCCCAGAAGACTGCTTAGTC	0.423													89	418					0	0	0	0	G	5398133	A	G	5398133	3	3	494	1	0	0	0	0	1	0	0	0	5192	275	10	5	928	5	EPB41L3	18	5398133	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	2506403	5398133	72679115	440	95905											
TMEM200C	645369	broad.mit.edu	37	chr18	5891615	5891615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagatgcggaagaagaagcCcacggacgtggaggaggagg	14	2	19	6	3	0	3	0	0	0	3	0	9	0	8	1	6	2	0	1	6	4	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:5891615C>G	ENST00000581347.1	-	3	1093	c.448G>C	c.(448-450)Ggc>Cgc	p.G150R	TMEM200C_ENST00000383490.2_Missense_Mutation_p.G150R|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	150						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AAGAAGAAGCCCACGGACGTG	0.647													12	73					0	0	0	0	G	5891615	C	G	5891615	3	3	494	1	0	0	0	0	1	0	0	0	16219	623	22	4	1421	4	TMEM200C	18	5891615	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	493482	5891615	72185633	441	95906											
LAMA1	284217	broad.mit.edu	37	chr18	7012055	7012055	+	Missense_Mutation	SNP	G	G	C																															acagcccggagcagaagcacGggctgcagcccagggggttg																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7012055G>C	ENST00000389658.3	-	24	3539	c.3446C>G	c.(3445-3447)cCg>cGg	p.P1149R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1149	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGAAGCACGGGCTGCAGCC	0.577													16	36					0	0	0	0	C	7012055	G	C	7012055	3	2	494	1	0	0	0	0	1	0	0	0	8658	1116	39	3	5941	3	LAMA1	18	7012055	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1120440	7012055	71065193	442	95907	1140	2									
LAMA1	284217	broad.mit.edu	37	chr18	7012056	7012056	+	Missense_Mutation	SNP	G	G	C																															cagcccggagcagaagcacgGgctgcagcccagggggttgt																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7012056G>C	ENST00000389658.3	-	24	3538	c.3445C>G	c.(3445-3447)Ccg>Gcg	p.P1149A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1149	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGAAGCACGGGCTGCAGCCC	0.572													17	38					0	0	0	0	C	7012056	G	C	7012056	3	2	494	1	0	0	0	0	1	0	0	0	8658	1232	43	4	5942	4	LAMA1	18	7012056	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1	7012056	71065192	443	95908	1140	2									
PTPRM	5797	broad.mit.edu	37	chr18	7906565	7906565	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctatcgatgaggtgaaggtGttaggacatccatgtagtaa	12	11	13	5	1	0	2	0	2	0	0	2	4	1	3	1	3	0	4	1	3	5	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7906565G>T	ENST00000332175.8	+	4	1568	c.531G>T	c.(529-531)gtG>gtT	p.V177V	PTPRM_ENST00000400053.4_Silent_p.V115V|PTPRM_ENST00000400060.4_Silent_p.V177V|PTPRM_ENST00000580170.1_Silent_p.V177V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	177	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGGTGAAGGTGTTAGGACATC	0.348													72	77					9.16385e-24	1.14927e-23	1	0	T	7906565	G	T	7906565	2	4	494	1	0	0	0	0	0	0	0	1	12888	1364	48	4		4	PTPRM	18	7906565	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	894509	7906565	70170683	444	95909											
IMPA2	3613	broad.mit.edu	37	chr18	11999164	11999164	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttaattatttctgagttgCgagagaggtttccttcacac	10	16	8	7	1	2	2	1	1	1	1	3	4	3	2	1	1	1	2	1	1	2	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:11999164C>T	ENST00000269159.3	+	2	450	c.208C>T	c.(208-210)Cga>Tga	p.R70*	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	70					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTCTGAGTTGCGAGAGAGGTT	0.483													24	154					0	0	0	0	T	11999164	C	T	11999164	4	4	494	1	0	0	0	0	0	1	0	0	7776	760	27	1	214	1	IMPA2	18	11999164	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4092599	11999164	66078084	445	95910											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-																															tccagttatgcccagctcctTcctcctcctcctcctcctct																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													10	127	---	---	---	---					-	12986929	TCC	-	12986927	7	5	494	1	0	1	0	1	0	0	0	0	14096	1770	62	0	1188	0	SEH1L	18	12986927	In_Frame_Del	DEL	TCC	TCGA-UF-A71D-01A-12D-A34J-08	987763	12986927	65090321	446	95911											
LAMA3	3909	broad.mit.edu	37	chr18	21355855	21355855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacaactgtgagaagtgtgCaattggatactacaatttcc	14	11	9	7	0	0	2	0	1	0	2	1	4	1	3	1	1	4	1	1	1	6	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:21355855C>T	ENST00000313654.9	+	10	1614	c.1373C>T	c.(1372-1374)gCa>gTa	p.A458V	LAMA3_ENST00000399516.3_Missense_Mutation_p.A458V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	458	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGAAGTGTGCAATTGGATAC	0.507													23	78					0	0	0	0	T	21355855	C	T	21355855	3	4	494	1	0	0	0	0	1	0	0	0	8660	710	25	4	1411	4	LAMA3	18	21355855	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	8368928	21355855	56721393	447	95912											
ZNF521	25925	broad.mit.edu	37	chr18	22807242	22807242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtgtaaggaactagAggacagaaacccacggcgac	13	5	13	10	3	0	2	0	0	0	2	1	5	1	4	2	3	2	1	2	3	4	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:22807242A>G	ENST00000361524.3	-	4	788	c.640T>C	c.(640-642)Tct>Cct	p.S214P	ZNF521_ENST00000538137.2_Missense_Mutation_p.S214P|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	214					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGGAACTAGAGGACAGAAAC	0.488			T	PAX5	ALL								21	46					0	0	0	0	G	22807242	A	G	22807242	3	3	494	1	0	0	0	0	1	0	0	0	18060	304	11	5	3315	5	ZNF521	18	22807242	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	1451387	22807242	55270006	448	95913											
ASXL3	80816	broad.mit.edu	37	chr18	31325879	31325879	+	Frame_Shift_Del	DEL	C	C	-																															atccgccgccgccaccgcctCcccctccccctccacccttg																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:31325879delC	ENST00000269197.5	+	12	6067	c.6067delC	c.(6067-6069)ccfs	p.P2028fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2028	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						gccaccgcctccccctccccc	0.592													8	21	---	---	---	---					-	31325879	C	-	31325879	7	5	494	1	0	1	0	1	0	0	0	0	1072	855	30	0	6113	0	ASXL3	18	31325879	Frame_Shift_Del	DEL	C	TCGA-UF-A71D-01A-12D-A34J-08	8518637	31325879	46751369	449	95914											
KIAA1328	57536	broad.mit.edu	37	chr18	34647275	34647275	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcctaagacacatccagaAtcatgcagttattgtcggct	12	11	7	11	1	1	2	1	0	0	2	4	2	3	2	2	1	1	3	2	1	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:34647275A>G	ENST00000591619.1	+	7	1773	c.987A>G	c.(985-987)gaA>gaG	p.E329E	KIAA1328_ENST00000543923.1_Silent_p.E225E|KIAA1328_ENST00000586135.1_Silent_p.E49E|KIAA1328_ENST00000435985.2_Silent_p.E49E|KIAA1328_ENST00000586501.1_Silent_p.E49E|KIAA1328_ENST00000280020.5_Silent_p.E333E			Q86T90	K1328_HUMAN	KIAA1328	333										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CACATCCAGAATCATGCAGTT	0.463													18	29					0	0	0	0	G	34647275	A	G	34647275	2	3	494	1	0	0	0	0	0	0	0	1	8276	98	4	5		5	KIAA1328	18	34647275	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	3321396	34647275	43429973	450	95915											
SEMA6B	10501	broad.mit.edu	37	chr19	4555498	4555498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttaccagagaagagggCaacattggcgtgcttggggt	10	9	15	7	1	0	2	0	0	0	2	0	3	0	2	1	4	4	3	1	4	4	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:4555498C>T	ENST00000586582.1	-	7	860	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEMA6B_ENST00000586965.1_Missense_Mutation_p.A184T|SEMA6B_ENST00000301293.3_Missense_Mutation_p.A184T	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	184	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGAGGGCAACATTGGCG	0.592													18	29					0	0	0	0	T	4555498	C	T	4555498	3	4	494	1	0	0	0	0	1	0	0	0	14127	710	25	4	2160	4	SEMA6B	19	4555498	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		4555498	54573485	451	95916											
DPP9	91039	broad.mit.edu	37	chr19	4689615	4689615	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctatgggagaagccgggCgtggtgaggcgtacgatctc	8	7	17	9	4	1	2	0	1	1	1	2	4	1	2	1	4	3	2	1	4	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:4689615C>G	ENST00000262960.9	-	15	1993	c.1716G>C	c.(1714-1716)acG>acC	p.T572T	DPP9_ENST00000594671.1_Silent_p.T543T|DPP9_ENST00000598800.1_Silent_p.T543T	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	543					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGAAGCCGGGCGTGGTGAGGC	0.667													8	10					0	0	0	0	G	4689615	C	G	4689615	2	3	494	1	0	0	0	0	0	0	0	1	4769	755	27	3		3	DPP9	19	4689615	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	134117	4689615	54439368	452	95917											
ELAVL1	1994	broad.mit.edu	37	chr19	8056655	8056656	+	Frame_Shift_Ins	INS	-	-	C																															aattcgttctcccgatgtcaINScccctgcagtcttcggccat																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:8056655_8056656insC	ENST00000407627.2	-	2	173_174	c.44_45insG	c.(43-45)ggafs	p.G15fs	ELAVL1_ENST00000351593.5_Frame_Shift_Ins_p.G42fs|ELAVL1_ENST00000593807.1_Frame_Shift_Ins_p.G15fs|ELAVL1_ENST00000596459.1_Frame_Shift_Ins_p.G15fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	15					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCCGATGTCACCCCTGCAGTC	0.421													39	156	---	---	---	---					C	8056656	-	C	8056655	7	5	494	1	0	1	1	0	0	0	0	0	5087	146	6	0	955	0	ELAVL1	19	8056655	Frame_Shift_Ins	INS	-	TCGA-UF-A71D-01A-12D-A34J-08	3367040	8056655	51072328	453	95918											
COL5A3	50509	broad.mit.edu	37	chr19	10112295	10112295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcttcatcctccctggctgCcttggtctccagggtcccca	3	13	8	17	0	3	0	1	0	2	0	7	0	6	0	6	3	1	1	6	3	0	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:10112295C>T	ENST00000264828.3	-	8	1100	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	339	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCCTGGCTGCCTTGGTCTCC	0.532											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	63					0	0	0	0	T	10112295	C	T	10112295	3	4	494	1	0	0	0	0	1	0	0	0	3728	739	26	4	4462	4	COL5A3	19	10112295	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2055640	10112295	49016688	454	95919											
ZNF491	126069	broad.mit.edu	37	chr19	11917346	11917346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatgaatgtaaggagtgtgGgaaatcattcaatttttcca	14	14	9	4	0	2	1	2	1	0	0	3	3	3	3	1	2	0	1	1	2	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:11917346G>C	ENST00000323169.5	+	3	909	c.578G>C	c.(577-579)gGg>gCg	p.G193A	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAGGAGTGTGGGAAATCATTC	0.423													29	57					0	0	0	0	C	11917346	G	C	11917346	3	2	494	1	0	0	0	0	1	0	0	0	18037	1232	43	4	580	4	ZNF491	19	11917346	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1805051	11917346	47211637	455	95920											
TRMT1	55621	broad.mit.edu	37	chr19	13220449	13220449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacagcctccaggacacggCccacaaaatccaggtcatgg	12	5	9	15	1	2	0	2	0	0	0	4	1	4	1	4	4	1	0	4	4	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:13220449C>T	ENST00000592062.1	-	12	1796	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	TRMT1_ENST00000221504.8_Missense_Mutation_p.G380D|TRMT1_ENST00000437766.1_Missense_Mutation_p.G409D|TRMT1_ENST00000357720.4_Missense_Mutation_p.G409D			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	409							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CAGGACACGGCCCACAAAATC	0.652													12	53					0	0	0	0	T	13220449	C	T	13220449	3	4	494	1	0	0	0	0	1	0	0	0	16656	739	26	4	781	4	TRMT1	19	13220449	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1303103	13220449	45908534	456	95921											
DCAF15	90379	broad.mit.edu	37	chr19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtgctgcttgccaggAtgccagccgagcccacccag	6	6	12	17	2	0	0	0	0	0	0	0	2	0	1	6	1	6	3	6	1	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	198										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667													7	41					0	0	0	0	G	14067054	A	G	14067054	3	3	494	1	0	0	0	0	1	0	0	0	4300	333	12	5	611	5	DCAF15	19	14067054	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	846605	14067054	45061929	457	95922											
AKAP8L	26993	broad.mit.edu	37	chr19	15511143	15511143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccttcttctctcccatcCtcttttccctcctcatcctc	2	18	1	20	0	4	0	1	0	3	0	11	0	9	0	6	0	1	0	6	0	0	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:15511143C>A	ENST00000397410.4	-	8	1075	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	AKAP8L_ENST00000595465.1_Missense_Mutation_p.E276D|AC006128.2_ENST00000599183.1_RNA	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	337						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCTCCCATCCTCTTTTCCCT	0.463													15	77					1.99824e-07	2.16208e-07	1	0	A	15511143	C	A	15511143	3	1	494	1	0	0	0	0	1	0	0	0	458	680	24	4	957	4	AKAP8L	19	15511143	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1444089	15511143	43617840	458	95923											
ANO8	57719	broad.mit.edu	37	chr19	17436109	17436109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgctcccgccgggcatgGtgctctgcatggcgctgtcg	3	10	14	14	4	2	0	1	0	1	0	4	0	3	0	2	3	3	5	2	3	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:17436109G>A	ENST00000159087.4	-	17	2906	c.2748C>T	c.(2746-2748)caC>caT	p.H916H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	916						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCCGGGCATGGTGCTCTGCAT	0.697													12	37					0	0	0	0	A	17436109	G	A	17436109	2	1	494	1	0	0	0	0	0	0	0	1	702	1252	44	4		4	ANO8	19	17436109	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1924966	17436109	41692874	459	95924											
ZNF91	7644	broad.mit.edu	37	chr19	23543263	23543263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttatgtttagcaagggCtgaggagtgcttaaaagctt	11	15	11	4	0	0	1	0	1	0	0	0	2	0	2	0	2	3	5	0	2	6	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:23543263C>T	ENST00000300619.7	-	4	2723	c.2518G>A	c.(2518-2520)Gcc>Acc	p.A840T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A808T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	840						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTAGCAAGGGCTGAGGAGTGC	0.368													24	94					0	0	0	0	T	23543263	C	T	23543263	3	4	494	1	0	0	0	0	1	0	0	0	18293	797	28	4	1061	4	ZNF91	19	23543263	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6107154	23543263	35585720	460	95925											
WDR88	126248	broad.mit.edu	37	chr19	33623337	33623337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattgatctggggcgaccagGaccctctctccaaggtcaga	10	8	11	12	1	3	2	1	1	2	1	5	4	4	3	3	4	0	0	3	4	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:33623337G>A	ENST00000361680.2	+	1	340	c.262G>A	c.(262-264)Gac>Aac	p.D88N	WDR88_ENST00000592765.1_Missense_Mutation_p.D88N|WDR88_ENST00000355868.3_Missense_Mutation_p.D88N			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	88										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGGCGACCAGGACCCTCTCTC	0.657													26	28					0	0	0	0	A	33623337	G	A	33623337	3	1	494	1	0	0	0	0	1	0	0	0	17431	1174	41	2	264	2	WDR88	19	33623337	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	10080074	33623337	25505646	461	95926											
RYR1	6261	broad.mit.edu	37	chr19	39076578	39076578	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtgtcctgccaccccagGtctgatcatcgacgcttttg	5	13	9	14	2	2	1	1	1	1	0	4	2	3	1	4	1	1	1	4	1	0	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:39076578G>A	ENST00000355481.4	+	102	14920	c.14788_splice	c.e102-1	p.G4930_splice	RYR1_ENST00000360985.3_Splice_Site_p.G4930_splice|RYR1_ENST00000359596.3_Splice_Site_p.G4935_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4935					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCACCCCAGGTCTGATCATC	0.582													21	44					0	0	0	0	A	39076578	G	A	39076578	5	1	494	1	0	0	0	0	0	0	1	0	13853	1275	44	4	15214	4	RYR1	19	39076578	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5453241	39076578	20052405	462	95927											
RABAC1	10567	broad.mit.edu	37	chr19	42462927	42462927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggaacacgaacacatagTtgctctggtagtactccacg	12	8	9	12	2	1	0	0	0	1	0	2	2	2	1	2	2	4	4	2	2	5	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:42462927T>C	ENST00000222008.6	-	2	327	c.230A>G	c.(229-231)aAc>aGc	p.N77S	RABAC1_ENST00000601891.1_Missense_Mutation_p.N77S|RABAC1_ENST00000601078.1_5'UTR	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	77						cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding			central_nervous_system(1)|kidney(1)|prostate(1)	3						GAACACATAGTTGCTCTGGTA	0.657													12	10					0	0	0	0	C	42462927	T	C	42462927	3	2	494	1	0	0	0	0	1	0	0	0	13042	1725	60	5	343	5	RABAC1	19	42462927	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	3386349	42462927	16666056	463	95928											
LIPE	3991	broad.mit.edu	37	chr19	42914537	42914537	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtcggcggtgagcccCtcgtcgccctcaaagaagag	10	5	14	12	4	1	3	1	1	0	2	4	4	1	4	3	3	1	0	3	3	3	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:42914537C>T	ENST00000244289.4	-	2	1617	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	447					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CGGTGAGCCCCTCGTCGCCCT	0.662													23	13					0	0	0	0	T	42914537	C	T	42914537	2	4	494	1	0	0	0	0	0	0	0	1	8876	680	24	4		4	LIPE	19	42914537	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	451610	42914537	16214446	464	95929											
KCNJ14	3770	broad.mit.edu	37	chr19	48967822	48967822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgcagtgctaaggagctgGatgaacgggcagagcaggct	10	7	16	8	1	1	2	0	1	1	1	1	4	1	4	0	4	5	6	0	4	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:48967822G>A	ENST00000391884.1	+	2	1575	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	KCNJ14_ENST00000342291.2_Missense_Mutation_p.D367N			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	367						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TAAGGAGCTGGATGAACGGGC	0.547													21	36					0	0	0	0	A	48967822	G	A	48967822	3	1	494	1	0	0	0	0	1	0	0	0	8101	1174	41	2	1105	2	KCNJ14	19	48967822	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6053285	48967822	10161161	465	95930											
FAM71E1	112703	broad.mit.edu	37	chr19	50979183	50979183	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgtctgggacggcccgtGggagaggctgcaaccaggag	8	4	18	11	3	1	1	0	0	1	1	1	4	1	3	3	5	3	2	3	5	1	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:50979183G>T	ENST00000600100.1	-	2	631	c.267C>A	c.(265-267)ccC>ccA	p.P89P	FAM71E1_ENST00000595790.1_Silent_p.P89P			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	89										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GACGGCCCGTGGGAGAGGCTG	0.617													3	18					0.004672	0.0047823	1	0	T	50979183	G	T	50979183	2	4	494	1	0	0	0	0	0	0	0	1	5657	1335	47	4		4	FAM71E1	19	50979183	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2011361	50979183	8149800	466	95931											
BRSK1	84446	broad.mit.edu	37	chr19	55805452	55805452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatccgcattgcagacttcGgcatggcgtccctgcaggtg	7	9	12	13	3	0	1	0	0	0	1	3	1	2	1	2	3	2	4	2	3	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:55805452G>T	ENST00000309383.1	+	5	803	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	BRSK1_ENST00000585418.1_Missense_Mutation_p.G176C|BRSK1_ENST00000590333.1_Missense_Mutation_p.G192C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	176	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGCAGACTTCGGCATGGCGTC	0.612													84	124					1.79992e-35	2.31472e-35	1	0	T	55805452	G	T	55805452	3	4	494	1	0	0	0	0	1	0	0	0	1531	1116	39	3	544	3	BRSK1	19	55805452	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4826269	55805452	3323531	467	95932											
NLRP5	126206	broad.mit.edu	37	chr19	56549546	56549546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgagagtctcccagtgcgCcctgcagaagctgatgtgag	8	9	13	11	1	1	4	0	3	1	2	2	5	1	4	2	0	3	2	2	0	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:56549546C>A	ENST00000390649.3	+	10	2771	c.2771C>A	c.(2770-2772)gCc>gAc	p.A924D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	924						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCAGTGCGCCCTGCAGAAG	0.537													26	57					3.1745e-13	3.64947e-13	1	0	A	56549546	C	A	56549546	3	1	494	1	0	0	0	0	1	0	0	0	10550	739	26	4	2809	4	NLRP5	19	56549546	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	744094	56549546	2579437	468	95933											
ZNF549	256051	broad.mit.edu	37	chr19	58049439	58049439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagcagagaatccacaCtggagagaggccttatgtgt	12	8	11	10	0	1	2	1	0	0	2	2	5	2	3	3	2	1	1	3	2	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:58049439C>T	ENST00000376233.3	+	4	1248	c.1067C>T	c.(1066-1068)aCt>aTt	p.T356I	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T343I|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATCCACACTGGAGAGAGG	0.443													29	56					0	0	0	0	T	58049439	C	T	58049439	3	4	494	1	0	0	0	0	1	0	0	0	18076	565	20	4	1038	4	ZNF549	19	58049439	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1499893	58049439	1079544	469	95934											
TGM6	343641	broad.mit.edu	37	chr20	2375188	2375188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctgagctggtggttcGcaggggccagtcgttcagcc	4	9	15	13	2	1	1	1	1	0	0	3	1	1	1	3	4	3	4	3	4	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:2375188G>A	ENST00000202625.2	+	2	159	c.98G>A	c.(97-99)cGc>cAc	p.R33H	TGM6_ENST00000381423.1_Missense_Mutation_p.R33H|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	33					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTGGTGGTTCGCAGGGGCCAG	0.632													12	18					0	0	0	0	A	2375188	G	A	2375188	3	1	494	1	0	0	0	0	1	0	0	0	15928	1087	38	1	104	1	TGM6	20	2375188	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08		2375188	60650332	470	95935											
ZNF343	79175	broad.mit.edu	37	chr20	2464782	2464782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctatctttaaagcttcgCccacaatcactgcaaatgta	13	12	5	11	1	3	0	1	0	2	0	4	1	3	0	1	0	2	3	1	0	6	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:2464782C>T	ENST00000278772.4	-	6	1312	c.825G>A	c.(823-825)ggG>ggA	p.G275G	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TAAAGCTTCGCCCACAATCAC	0.468													36	83					0	0	0	0	T	2464782	C	T	2464782	2	4	494	1	0	0	0	0	0	0	0	1	17953	726	26	4		4	ZNF343	20	2464782	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	89594	2464782	60560738	471	95936											
HAO1	54363	broad.mit.edu	37	chr20	7866474	7866474	+	Missense_Mutation	SNP	C	C	A																															ccaggaagacttccaccttcCcttccacagcctccacaatt																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:7866474C>A	ENST00000378789.3	-	6	902	c.851G>T	c.(850-852)gGg>gTg	p.G284V		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	284	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTCCACCTTCCCTTCCACAGC	0.483													43	79					3.4345e-17	4.08772e-17	1	0	A	7866474	C	A	7866474	3	1	494	1	0	0	0	0	1	0	0	0	7001	623	22	4	273	4	HAO1	20	7866474	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5401692	7866474	55159046	472	95937	1141	2									
HAO1	54363	broad.mit.edu	37	chr20	7866475	7866475	+	Missense_Mutation	SNP	C	C	A																															caggaagacttccaccttccCttccacagcctccacaattt																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:7866475C>A	ENST00000378789.3	-	6	901	c.850G>T	c.(850-852)Ggg>Tgg	p.G284W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	284	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCACCTTCCCTTCCACAGCC	0.483													44	78					9.58827e-17	1.13231e-16	1	0	A	7866475	C	A	7866475	3	1	494	1	0	0	0	0	1	0	0	0	7001	681	24	4	274	4	HAO1	20	7866475	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1	7866475	55159045	473	95938	1141	2									
PLCB1	23236	broad.mit.edu	37	chr20	8113334	8113334	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccggagtgcacgccttgcaActcaagcccgtgtgcgtgtc	6	8	12	15	4	1	0	1	0	0	0	2	1	1	1	3	1	5	2	3	1	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:8113334A>G	ENST00000378641.3	+	1	511	c.36A>G	c.(34-36)caA>caG	p.Q12Q	PLCB1_ENST00000338037.6_Silent_p.Q12Q|PLCB1_ENST00000378637.2_Silent_p.Q12Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	12				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACGCCTTGCAACTCAAGCCCG	0.687													13	30					0	0	0	0	G	8113334	A	G	8113334	2	3	494	1	0	0	0	0	0	0	0	1	12099	40	2	5		5	PLCB1	20	8113334	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	246859	8113334	54912186	474	95939											
SPTLC3	55304	broad.mit.edu	37	chr20	13071769	13071769	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagttggaggaccttgtgGctaagttcctgaatgtggaa	10	11	15	5	0	0	1	0	1	0	0	1	5	1	5	2	5	0	3	2	5	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:13071769G>C	ENST00000399002.2	+	5	920	c.646G>C	c.(646-648)Gct>Cct	p.A216P	SPTLC3_ENST00000378194.4_Missense_Mutation_p.A216P	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	216					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGACCTTGTGGCTAAGTTCCT	0.423													55	138					0	0	0	0	C	13071769	G	C	13071769	3	2	494	1	0	0	0	0	1	0	0	0	15215	1203	42	4	664	4	SPTLC3	20	13071769	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4958435	13071769	49953751	475	95940											
CRNKL1	51340	broad.mit.edu	37	chr20	20029145	20029145	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctcgtatatggatcgagcCcttaagaagcaagatttgca	12	10	10	9	3	0	2	0	0	0	2	2	4	0	3	1	1	3	4	1	1	5	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:20029145C>T	ENST00000377340.2	-	5	811	c.779_splice	c.e5-1	p.R260_splice	CRNKL1_ENST00000377327.4_Splice_Site_p.R248_splice|CRNKL1_ENST00000536226.1_Splice_Site_p.R99_splice	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	260					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGGATCGAGCCCTTAAGAAGC	0.398													14	34					0	0	0	0	T	20029145	C	T	20029145	5	4	494	1	0	0	0	0	0	0	1	0	3921	637	22	4	1810	4	CRNKL1	20	20029145	Splice_Site	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6957376	20029145	42996375	476	95941											
PXMP4	11264	broad.mit.edu	37	chr20	32295525	32295525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcattaattggagggaCggctcttgttatagacgagg	9	11	15	6	2	1	1	0	0	1	1	1	4	1	3	0	5	1	4	0	5	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:32295525C>T	ENST00000409299.3	-	4	718	c.626G>A	c.(625-627)cGt>cAt	p.R209H	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	209						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATTGGAGGGACGGCTCTTGTT	0.542													24	81					0	0	0	0	T	32295525	C	T	32295525	3	4	494	1	0	0	0	0	1	0	0	0	12933	536	19	1	16	1	PXMP4	20	32295525	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	12266380	32295525	30729995	477	95942											
ZNF341	84905	broad.mit.edu	37	chr20	32378850	32378850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagccgccgtgcccacCtcgccgagcatcagcgcgcc	5	5	10	21	6	2	0	2	0	0	0	3	1	2	0	7	0	4	1	7	0	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:32378850C>T	ENST00000375200.1	+	15	2457	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.L691F|RP4-553F4.6_ENST00000443171.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCGTGCCCACCTCGCCGAGCA	0.602													4	72					0	0	0	0	T	32378850	C	T	32378850	3	4	494	1	0	0	0	0	1	0	0	0	17952	681	24	4	2129	4	ZNF341	20	32378850	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	83325	32378850	30646670	478	95943											
DLGAP4	22839	broad.mit.edu	37	chr20	35060212	35060212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagggaccgaccgcaaccCctacctgctgtcgcccacgg	7	5	11	18	4	0	0	0	0	0	0	1	2	0	1	6	2	4	3	6	2	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:35060212C>T	ENST00000373913.3	+	3	572	c.92C>T	c.(91-93)cCc>cTc	p.P31L	DLGAP4_ENST00000339266.5_Missense_Mutation_p.P31L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P31L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P31L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	31					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GACCGCAACCCCTACCTGCTG	0.687													15	62					0	0	0	0	T	35060212	C	T	35060212	3	4	494	1	0	0	0	0	1	0	0	0	4599	623	22	4	94	4	DLGAP4	20	35060212	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	2681362	35060212	27965308	479	95944											
KIAA1755	85449	broad.mit.edu	37	chr20	36855589	36855589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctgcagctggagagcCgcctccttctcccccaggaa	8	8	10	15	1	2	1	0	0	2	1	4	3	3	2	5	2	3	2	5	2	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:36855589C>T	ENST00000279024.4	-	7	2290	c.2019G>A	c.(2017-2019)gcG>gcA	p.A673A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	673								p.A673A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTGGAGAGCCGCCTCCTTCT	0.592													5	52					0	0	0	0	T	36855589	C	T	36855589	2	4	494	1	0	0	0	0	0	0	0	1	8308	639	23	1		1	KIAA1755	20	36855589	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1795377	36855589	26169931	480	95945											
PPP1R16B	26051	broad.mit.edu	37	chr20	37536546	37536546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggcacaagtcatccttGagccggaggacctccagcgc	9	6	12	14	2	1	2	1	2	0	0	3	4	3	4	4	3	2	1	4	3	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:37536546G>A	ENST00000299824.1	+	9	1185	c.996G>A	c.(994-996)ttG>ttA	p.L332L	PPP1R16B_ENST00000373331.2_Silent_p.L290L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	332					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGTCATCCTTGAGCCGGAGGA	0.607													18	62					0	0	0	0	A	37536546	G	A	37536546	2	1	494	1	0	0	0	0	0	0	0	1	12442	1281	45	2		2	PPP1R16B	20	37536546	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	680957	37536546	25488974	481	95946											
PREX1	57580	broad.mit.edu	37	chr20	47361678	47361678	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtcttcgatgttcgagaAcaggacctgtgaggaaaaga	13	9	13	6	2	1	3	0	1	1	2	3	8	1	5	1	2	1	1	1	2	3	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:47361678A>T	ENST00000396220.1	-	3	320	c.298T>A	c.(298-300)Ttc>Atc	p.F100I	PREX1_ENST00000371941.3_Missense_Mutation_p.F100I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	100	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGTTCGAGAACAGGACCTGT	0.507													58	258					0	0	0	0	T	47361678	A	T	47361678	3	4	494	1	0	0	0	0	1	0	0	0	12556	43	2	5	4833	5	PREX1	20	47361678	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	9825132	47361678	15663842	482	95947											
SYCP2	10388	broad.mit.edu	37	chr20	58444966	58444966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgttactgttttgtgtttCttgtgtaagtaccagagaac	8	17	10	6	0	1	1	0	0	1	1	1	2	1	1	1	0	3	6	1	0	4	7			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:58444966C>G	ENST00000357552.3	-	36	3853	c.3628G>C	c.(3628-3630)Gaa>Caa	p.E1210Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1210Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1210					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTTGTGTTTCTTGTGTAAGT	0.308													41	167					0	0	0	0	G	58444966	C	G	58444966	3	3	494	1	0	0	0	0	1	0	0	0	15523	922	32	2	1004	2	SYCP2	20	58444966	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	11083288	58444966	4580554	483	95948											
NCAM2	4685	broad.mit.edu	37	chr21	22658660	22658660	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgcagaagtggtttgcCgagttagcagttcacctgca	11	10	12	8	1	1	2	1	0	0	2	1	3	1	2	2	1	4	6	2	1	3	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:22658660C>A	ENST00000400546.1	+	4	658	c.409C>A	c.(409-411)Cga>Aga	p.R137R	NCAM2_ENST00000535285.1_Silent_p.R162R|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	137	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTGGTTTGCCGAGTTAGCAG	0.398													28	59					3.65163e-15	4.26257e-15	1	0	A	22658660	C	A	22658660	2	1	494	1	0	0	0	0	0	0	0	1	10273	644	23	3		3	NCAM2	21	22658660	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		22658660	25471235	484	95949											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338542	28338542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggtgcgggtggccgggagGctcggctcgctcctgcacct	2	7	19	13	4	0	0	0	0	0	0	3	1	1	1	3	7	2	4	3	7	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:28338542G>T	ENST00000284987.5	-	1	290	c.169C>A	c.(169-171)Cct>Act	p.P57T		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	57					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCCGGGAGGCTCGGCTCGC	0.731													14	39					1.05317e-09	1.16021e-09	1	0	T	28338542	G	T	28338542	3	4	494	1	0	0	0	0	1	0	0	0	269	1203	42	4	2655	4	ADAMTS5	21	28338542	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	5679882	28338542	19791353	485	95950											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864177	31864177	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccagaacccagtctGcggaagctgccacatccaca	12	4	8	17	1	1	1	0	0	1	1	2	2	2	2	5	1	5	1	5	1	2	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:31864177G>C	ENST00000334063.4	-	1	98	c.99C>G	c.(97-99)cgC>cgG	p.R33R		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	33						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AACCCAGTCTGCGGAAGCTGC	0.582													92	224					0	0	0	0	C	31864177	G	C	31864177	2	2	494	1	0	0	0	0	0	0	0	1	8582	1306	46	4		4	KRTAP19-3	21	31864177	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3525635	31864177	16265718	486	95951											
DSCR3	10311	broad.mit.edu	37	chr21	38605665	38605665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccgagtgaagcttacagCggagtgaacgataaattcac	13	8	10	10	3	1	2	1	2	0	0	2	5	2	3	2	1	4	1	2	1	5	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:38605665C>T	ENST00000288304.5	-	4	1096	c.304G>A	c.(304-306)Gct>Act	p.A102T	DSCR3_ENST00000399000.3_5'UTR|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000476950.1_Intron|DSCR3_ENST00000398998.1_Missense_Mutation_p.A96T|DSCR3_ENST00000309117.6_Missense_Mutation_p.A144T			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	144					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						AAGCTTACAGCGGAGTGAACG	0.473													8	96					0	0	0	0	T	38605665	C	T	38605665	3	4	494	1	0	0	0	0	1	0	0	0	4807	768	27	1	483	1	DSCR3	21	38605665	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6741488	38605665	9524230	487	95952											
KCNJ6	3763	broad.mit.edu	37	chr21	39086663	39086663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagacggtcatcccccGtgtaataccctacgttgata	12	9	8	12	3	1	2	1	1	0	1	2	3	2	2	3	1	3	2	3	1	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:39086663G>A	ENST00000400482.3	-	3	1386	c.797C>T	c.(796-798)aCg>aTg	p.T266M	KCNJ6_ENST00000288309.6_Missense_Mutation_p.T266M	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	266					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCATCCCCCGTGTAATACCC	0.507													60	101					0	0	0	0	A	39086663	G	A	39086663	3	1	494	1	0	0	0	0	1	0	0	0	8108	1145	40	1	482	1	KCNJ6	21	39086663	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	480998	39086663	9043232	488	95953											
TMPRSS2	7113	broad.mit.edu	37	chr21	42866334	42866334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgcgtgcagacgacggGgttggaagcctgcgtcagga	7	6	19	9	4	1	1	1	0	0	1	1	4	1	3	1	5	4	3	1	5	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:42866334G>C	ENST00000398585.3	-	3	358	c.298C>G	c.(298-300)Ccc>Gcc	p.P100A	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.P63A|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.P63A	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	63					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CAGACGACGGGGTTGGAAGCC	0.612			T	"ERG, ETV1, ETV4, ETV5"	prostate								14	40					0	0	0	0	C	42866334	G	C	42866334	3	2	494	1	0	0	0	0	1	0	0	0	16341	1232	43	4	1339	4	TMPRSS2	21	42866334	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3779671	42866334	5263561	489	95954											
IL17RA	23765	broad.mit.edu	37	chr22	17579699	17579699	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagggtgcagagttatcTgtcctgcagctgaacaccaa	10	9	11	11	1	1	2	0	1	1	1	3	3	2	2	2	1	4	4	2	1	3	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:17579699T>A	ENST00000319363.6	+	4	478	c.345T>A	c.(343-345)tcT>tcA	p.S115S	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	115					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGAGTTATCTGTCCTGCAGC	0.522													14	67					0	0	0	0	A	17579699	T	A	17579699	2	1	494	1	0	0	0	0	0	0	0	1	7692	1567	55	5		5	IL17RA	22	17579699	Silent	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08		17579699	33724867	490	95955											
IGLL1	3543	broad.mit.edu	37	chr22	23915609	23915609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtttggagggcgtggtCatctccacgccctgggtgat	4	12	14	11	2	3	1	1	1	2	0	4	2	3	2	2	4	0	1	2	4	0	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:23915609C>T	ENST00000330377.2	-	3	603	c.486G>A	c.(484-486)atG>atA	p.M162I	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	162	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						AGGGCGTGGTCATCTCCACGC	0.582													24	98					0	0	0	0	T	23915609	C	T	23915609	3	4	494	1	0	0	0	0	1	0	0	0	7646	826	29	2	159	2	IGLL1	22	23915609	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	6335910	23915609	27388957	491	95956											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951149	30951149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgtcctggatggcggCggcgtccacggcgtggcccc	2	6	17	16	6	0	0	0	0	0	0	3	1	2	1	5	7	0	0	5	7	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:30951149C>T	ENST00000402321.1	-	3	1380	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A355T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A355T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	355					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGGATGGCGGCGGCGTCCACG	0.711													6	60					0	0	0	0	T	30951149	C	T	30951149	3	4	494	1	0	0	0	0	1	0	0	0	6246	768	27	1	212	1	GAL3ST1	22	30951149	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	7035540	30951149	20353417	492	95957											
CACNG2	10369	broad.mit.edu	37	chr22	36960515	36960515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcggagttgtaggtggcGgtgggcgtggtggcggcctt	2	11	21	7	4	0	0	0	0	0	0	1	1	0	1	1	8	0	2	1	8	1	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:36960515G>A	ENST00000300105.6	-	4	1836	c.855C>T	c.(853-855)acC>acT	p.T285T		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	285					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTAGGTGGCGGTGGGCGTGG	0.607													4	108					0	0	0	0	A	36960515	G	A	36960515	2	1	494	1	0	0	0	0	0	0	0	1	2582	1103	39	1		1	CACNG2	22	36960515	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	6009366	36960515	14344051	493	95958											
MICALL1	85377	broad.mit.edu	37	chr22	38327856	38327856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagccatcacctgcagcgtcCccagccacaaagaaggccac	13	3	8	17	1	1	1	1	0	0	1	2	1	2	1	6	1	4	1	6	1	3	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:38327856C>T	ENST00000215957.6	+	10	2058	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	644	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CTGCAGCGTCCCCAGCCACAA	0.587													14	141					0	0	0	0	T	38327856	C	T	38327856	2	4	494	1	0	0	0	0	0	0	0	1	9642	610	22	4		4	MICALL1	22	38327856	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1367341	38327856	12976710	494	95959											
PICK1	9463	broad.mit.edu	37	chr22	38468504	38468504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggggacgtgttctccGtgatcggggtgcgggagccc	3	10	17	11	4	1	1	0	1	1	0	3	3	1	3	3	5	2	1	3	5	0	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:38468504G>A	ENST00000404072.3	+	9	924	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PICK1_ENST00000356976.3_Missense_Mutation_p.V193M|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	193	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CGTGTTCTCCGTGATCGGGGT	0.607													8	72					0	0	0	0	A	38468504	G	A	38468504	3	1	494	1	0	0	0	0	1	0	0	0	11953	1145	40	1	607	1	PICK1	22	38468504	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	140648	38468504	12836062	495	95960											
TNRC6B	23112	broad.mit.edu	37	chr22	40711989	40711989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagttcgtcctagttactgGctggttcttcacaatctcac	7	15	7	12	1	4	0	3	0	2	0	7	0	5	0	1	2	1	4	1	2	3	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:40711989G>C	ENST00000454349.2	+	21	5158	c.4947G>C	c.(4945-4947)tgG>tgC	p.W1649C	TNRC6B_ENST00000301923.9_Missense_Mutation_p.W845C|TNRC6B_ENST00000335727.8_Missense_Mutation_p.W1539C|TNRC6B_ENST00000402203.1_Missense_Mutation_p.W845C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1649	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTAGTTACTGGCTGGTTCTTC	0.428													16	42					0	0	0	0	C	40711989	G	C	40711989	3	2	494	1	0	0	0	0	1	0	0	0	16435	1212	42	4	5150	4	TNRC6B	22	40711989	Missense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	2243485	40711989	10592577	496	95961											
SREBF2	6721	broad.mit.edu	37	chr22	42280846	42280846	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgtttctgcccaccctagGgaagcttcctgcaggatccg	6	11	10	14	1	2	0	0	0	2	0	4	2	4	2	4	2	3	3	4	2	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:42280846G>T	ENST00000361204.4	+	11	2205	c.2038_splice	c.e11-1	p.G680_splice		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	680					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCCACCCTAGGGAAGCTTCCT	0.532													21	56					1.10513e-12	1.26331e-12	1	0	T	42280846	G	T	42280846	5	4	494	1	0	0	0	0	0	0	1	0	15232	1246	43	4	2081	4	SREBF2	22	42280846	Splice_Site	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	1568857	42280846	9023720	497	95962											
CYB5R3	1727	broad.mit.edu	37	chr22	43023656	43023656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacttcactgtcctgatgaTagggttggactttttgtcag	8	15	11	7	0	2	3	2	2	0	1	3	4	3	4	1	2	0	1	1	2	1	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:43023656T>C	ENST00000361740.4	-	6	600	c.601A>G	c.(601-603)Atc>Gtc	p.I201V	CYB5R3_ENST00000402438.1_Missense_Mutation_p.I145V|CYB5R3_ENST00000396303.3_Missense_Mutation_p.I145V|CYB5R3_ENST00000407623.3_Missense_Mutation_p.I145V|CYB5R3_ENST00000407332.1_Missense_Mutation_p.I145V|CYB5R3_ENST00000352397.5_Missense_Mutation_p.I168V	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	168					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	GTCCTGATGATAGGGTTGGAC	0.602													34	90					0	0	0	0	C	43023656	T	C	43023656	3	2	494	1	0	0	0	0	1	0	0	0	4160	1406	49	5	419	5	CYB5R3	22	43023656	Missense_Mutation	SNP	T	TCGA-UF-A71D-01A-12D-A34J-08	742810	43023656	8280910	498	95963											
TBC1D22A	25771	broad.mit.edu	37	chr22	47309249	47309249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctttccaggttgtggtcgGcctcagattcccatccttgc	4	13	10	14	1	1	1	1	0	0	1	5	1	4	1	5	3	1	1	5	3	0	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:47309249G>T	ENST00000380995.1	+	9	1190	c.894G>T	c.(892-894)cgG>cgT	p.R298R	TBC1D22A_ENST00000406733.1_Intron|TBC1D22A_ENST00000337137.4_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000355704.3_Intron			Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	0	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GTTGTGGTCGGCCTCAGATTC	0.453													6	26					0.248553	0.249374	1	0	T	47309249	G	T	47309249	2	4	494	1	0	0	0	0	0	0	0	1	15702	1218	42	4		4	TBC1D22A	22	47309249	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	4285593	47309249	3995317	499	95964											
SBF1	6305	broad.mit.edu	37	chr22	50904401	50904401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcaccatgctcagcaCactgtgcgtctgactctgca	7	9	8	17	1	4	1	2	1	2	0	4	1	4	1	3	0	4	3	3	0	0	0			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:50904401C>T	ENST00000380817.2	-	9	1183	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	SBF1_ENST00000390679.3_Missense_Mutation_p.V334M|SBF1_ENST00000348911.6_Missense_Mutation_p.V335M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	334					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCTCAGCACACTGTGCGTC	0.622													18	89					0	0	0	0	T	50904401	C	T	50904401	3	4	494	1	0	0	0	0	1	0	0	0	13944	478	17	4	4813	4	SBF1	22	50904401	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	3595152	50904401	400165	500	95965											
NLGN4X	57502	broad.mit.edu	37	chrX	5810948	5810948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcaaaggctgcatcccCgtcagtgtgtttggaatcat	8	12	12	9	1	2	0	2	0	0	0	3	1	3	1	2	2	2	4	2	2	2	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:5810948C>T	ENST00000381095.3	-	6	2988	c.2361G>A	c.(2359-2361)acG>acA	p.T787T	NLGN4X_ENST00000275857.6_Silent_p.T787T|NLGN4X_ENST00000538097.1_Silent_p.T787T|NLGN4X_ENST00000381093.2_Silent_p.T807T|NLGN4X_ENST00000381092.1_Silent_p.T787T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	787					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCTGCATCCCCGTCAGTGTGT	0.517													23	59					0	0	0	0	T	5810948	C	T	5810948	2	4	494	1	0	0	0	0	0	0	0	1	10534	639	23	1		1	NLGN4X	23	5810948	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08		5810948	149459612	501	95966											
DMD	1756	broad.mit.edu	37	chrX	32305701	32305701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattggaaatcaagctgggAgagagcttcctgtagcttca	11	10	11	9	0	2	1	2	0	0	1	3	4	3	3	2	2	3	4	2	2	3	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:32305701A>T	ENST00000357033.4	-	43	6441	c.6235T>A	c.(6235-6237)Tcc>Acc	p.S2079T	DMD_ENST00000378677.2_Missense_Mutation_p.S2075T	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	2079					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			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)				TCAAGCTGGGAGAGAGCTTCC	0.413													23	51					0	0	0	0	T	32305701	A	T	32305701	3	4	494	1	0	0	0	0	1	0	0	0	4617	304	11	5	5118	5	DMD	23	32305701	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	26494753	32305701	122964859	502	95967											
USP9X	8239	broad.mit.edu	37	chrX	41089764	41089764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaattaggagccagatgAccaagatgctccagatgaac	16	7	9	9	0	1	5	1	2	0	3	2	6	2	6	3	1	3	1	3	1	5	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:41089764A>G	ENST00000324545.7	+	44	8123	c.7490A>G	c.(7489-7491)gAc>gGc	p.D2497G	USP9X_ENST00000378308.2_Missense_Mutation_p.D2481G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2497					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAGCCAGATGACCAAGATGCT	0.368													32	40					0	0	0	0	G	41089764	A	G	41089764	3	3	494	1	0	0	0	0	1	0	0	0	17186	275	10	5	7660	5	USP9X	23	41089764	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	8784063	41089764	114180796	503	95968											
PJA1	64219	broad.mit.edu	37	chrX	68381193	68381193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcggcacacggggcaggtgCctgacttctgaagccagatg	9	6	15	11	2	1	3	0	2	1	1	1	3	1	3	2	4	3	2	2	4	1	1			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:68381193C>T	ENST00000361478.1	-	2	2266	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	PJA1_ENST00000374571.4_Missense_Mutation_p.G575D|PJA1_ENST00000374583.1_Missense_Mutation_p.G630D|PJA1_ENST00000374584.3_Missense_Mutation_p.G442D	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	630							zinc ion binding	p.G630D(1)|p.G442D(1)|p.G442V(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGGGCAGGTGCCTGACTTCTG	0.537													8	21					0	0	0	0	T	68381193	C	T	68381193	3	4	494	1	0	0	0	0	1	0	0	0	12033	739	26	4	46	4	PJA1	23	68381193	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	27291429	68381193	86889367	504	95969											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524386	73524386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacactgttatacctgcggCagactaggacatctggctcg	10	9	10	12	2	1	1	0	0	1	1	2	2	1	2	1	3	3	3	1	3	4	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:73524386C>T	ENST00000339534.2	+	1	362	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	95							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATACCTGCGGCAGACTAGGAC	0.512													17	47					0	0	0	0	T	73524386	C	T	73524386	2	4	494	1	0	0	0	0	0	0	0	1	17677	697	25	4		4	ZCCHC13	23	73524386	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5143193	73524386	81746174	505	95970											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913908	77913908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatataggaggctgctaagtCctccaccatcttttgaggaa	12	11	9	9	0	1	1	0	1	1	0	3	3	3	3	3	3	1	2	3	3	5	5			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:77913908C>G	ENST00000321110.1	-	2	305	c.10G>C	c.(10-12)Gac>Cac	p.D4H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	4							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGCTAAGTCCTCCACCATC	0.463													16	17					0	0	0	0	G	77913908	C	G	77913908	3	3	494	1	0	0	0	0	1	0	0	0	17686	855	30	2	1421	2	ZCCHC5	23	77913908	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4389522	77913908	77356652	506	95971											
CYLC1	1538	broad.mit.edu	37	chrX	83128054	83128054	+	Missense_Mutation	SNP	C	C	A																															caaaacccatcttaaaaaagCagaatataaaaagtccaaag																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:83128054C>A	ENST00000329312.4	+	4	375	c.338C>A	c.(337-339)gCa>gAa	p.A113E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	113					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTTAAAAAAGCAGAATATAAA	0.368													17	19					3.32936e-07	3.59594e-07	1	0	A	83128054	C	A	83128054	3	1	494	1	0	0	0	0	1	0	0	0	4173	710	25	4	352	4	CYLC1	23	83128054	Missense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	5214146	83128054	72142506	507	95972	1142	2									
CYLC1	1538	broad.mit.edu	37	chrX	83128055	83128055	+	Silent	SNP	A	A	C																															aaaacccatcttaaaaaagcAgaatataaaaagtccaaaga																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:83128055A>C	ENST00000329312.4	+	4	376	c.339A>C	c.(337-339)gcA>gcC	p.A113A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	113					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTAAAAAAGCAGAATATAAAA	0.368													17	19					0	0	0	0	C	83128055	A	C	83128055	2	2	494	1	0	0	0	0	0	0	0	1	4173	175	7	5		5	CYLC1	23	83128055	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	1	83128055	72142505	508	95973	1142	2									
KLHL4	56062	broad.mit.edu	37	chrX	86919928	86919928	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcacagagaaatgaatGgaaagaggtattcgaattaa	18	9	11	3	1	0	4	0	2	0	2	1	7	0	5	0	2	1	2	0	2	6	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:86919928G>A	ENST00000373119.4	+	10	2235	c.2090G>A	c.(2089-2091)tGg>tAg	p.W697*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.W697*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	697						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGAAATGAATGGAAAGAGGTA	0.318													21	39					0	0	0	0	A	86919928	G	A	86919928	4	1	494	1	0	0	0	0	0	1	0	0	8443	1357	47	4	2128	4	KLHL4	23	86919928	Nonsense_Mutation	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	3791873	86919928	68350632	509	95974											
PCDH11X	27328	broad.mit.edu	37	chrX	91133063	91133063	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctgcagttacgctctcCattttagatgagaatgatga	12	14	8	7	1	2	4	0	3	2	2	3	5	2	4	1	0	2	3	1	0	4	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:91133063C>A	ENST00000373094.1	+	2	2669	c.1824C>A	c.(1822-1824)tcC>tcA	p.S608S	PCDH11X_ENST00000395337.2_Silent_p.S608S|PCDH11X_ENST00000373097.1_Silent_p.S608S|PCDH11X_ENST00000373088.1_Silent_p.S608S|PCDH11X_ENST00000504220.1_Silent_p.S608S|PCDH11X_ENST00000361655.2_Silent_p.S608S|PCDH11X_ENST00000298274.8_Silent_p.S608S|PCDH11X_ENST00000406881.1_Silent_p.S608S|PCDH11X_ENST00000361724.1_Silent_p.S608S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	608	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTACGCTCTCCATTTTAGATG	0.378													19	50					2.04263e-09	2.24209e-09	1	0	A	91133063	C	A	91133063	2	1	494	1	0	0	0	0	0	0	0	1	11579	581	21	4		4	PCDH11X	23	91133063	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	4213135	91133063	64137497	510	95975											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104440332	104440332	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgatttggaagagccCatcatcttttcagaggtcag	12	11	11	7	0	4	3	3	1	1	2	4	4	4	4	1	3	1	0	1	3	2	3			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:104440332C>A	ENST00000372582.1	+	3	1014	c.258C>A	c.(256-258)ccC>ccA	p.P86P	IL1RAPL2_ENST00000344799.4_Silent_p.P86P	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	86	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAAGAGCCCATCATCTTTT	0.443													35	42					6.90743e-12	7.83702e-12	1	0	A	104440332	C	A	104440332	2	1	494	1	0	0	0	0	0	0	0	1	7715	581	21	4		4	IL1RAPL2	23	104440332	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	13307269	104440332	50830228	511	95976											
TRPC5	7224	broad.mit.edu	37	chrX	111155686	111155686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcttgcactgctgagAgagctcctcatactcggcct	10	9	10	12	1	1	3	1	1	0	2	3	4	2	3	2	1	5	4	2	1	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:111155686A>G	ENST00000262839.2	-	3	1651	c.733T>C	c.(733-735)Tct>Cct	p.S245P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	245					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTGCTGAGAGAGCTCCTCA	0.547													99	124					0	0	0	0	G	111155686	A	G	111155686	3	3	494	1	0	0	0	0	1	0	0	0	16677	304	11	5	2224	5	TRPC5	23	111155686	Missense_Mutation	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	6715354	111155686	44114874	512	95977											
SPANXD	64648	broad.mit.edu	37	chrX	140785837	140785837	+	Nonsense_Mutation	SNP	C	C	A																															tgagtacccactcgaggtctCcggcatctgttaagaaaaca																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:140785837C>A	ENST00000370515.3	-	2	412	c.79G>T	c.(79-81)Gag>Tag	p.E27*		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CTCGAGGTCTCCGGCATCTGT	0.483													67	321					3.94839e-29	5.04563e-29	1	0	A	140785837	C	A	140785837	4	1	494	1	0	0	0	0	0	1	0	0	15078	864	30	2	218	2	SPANXD	23	140785837	Nonsense_Mutation	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	29630151	140785837	14484723	513	95978	1143	2									
SPANXD	64648	broad.mit.edu	37	chrX	140785838	140785838	+	Silent	SNP	C	C	A																															gagtacccactcgaggtctcCggcatctgttaagaaaacag																										TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:140785838C>A	ENST00000370515.3	-	2	411	c.78G>T	c.(76-78)ccG>ccT	p.P26P		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCGAGGTCTCCGGCATCTGTT	0.488													65	317					2.59843e-28	3.31354e-28	1	0	A	140785838	C	A	140785838	2	1	494	1	0	0	0	0	0	0	0	1	15078	639	23	3		3	SPANXD	23	140785838	Silent	SNP	C	TCGA-UF-A71D-01A-12D-A34J-08	1	140785838	14484722	514	95979	1143	2									
SPANXN3	139067	broad.mit.edu	37	chrX	142605193	142605193	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcttcgtcttctccccAttggtgctggaagttggctg	3	14	13	11	1	3	0	0	0	3	0	5	1	3	1	2	4	1	4	2	4	1	4			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:142605193A>G	ENST00000370503.2	-	1	110	c.27T>C	c.(25-27)aaT>aaC	p.N9N		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	9										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCTCCCCATTGGTGCTGG	0.443													93	144					0	0	0	0	G	142605193	A	G	142605193	2	3	494	1	0	0	0	0	0	0	0	1	15082	214	8	5		5	SPANXN3	23	142605193	Silent	SNP	A	TCGA-UF-A71D-01A-12D-A34J-08	1819355	142605193	12665367	515	95980											
F8	2157	broad.mit.edu	37	chrX	154194841	154194841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttgtcatcatcaaacctGaccacatccatttcagaatc	13	11	5	12	0	4	2	4	1	0	1	6	3	5	2	3	0	1	1	3	0	2	2			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:154194841G>A	ENST00000360256.4	-	8	1331	c.1131C>T	c.(1129-1131)gtC>gtT	p.V377V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	377					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATCAAACCTGACCACATCCA	0.418													32	72					0	0	0	0	A	154194841	G	A	154194841	2	1	494	1	0	0	0	0	0	0	0	1	5388	1277	45	2		2	F8	23	154194841	Silent	SNP	G	TCGA-UF-A71D-01A-12D-A34J-08	11589648	154194841	1075719	516	95981											
PRDM16	63976	broad.mit.edu	37	chr1	3328721	3328721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaagtttgggggcggcttgGcgcccccgggggccccgaac	4	5	17	15	4	0	0	0	0	0	0	0	1	0	0	5	6	1	2	5	6	2	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:3328721G>T	ENST00000378398.3	+	10	2045	c.1963G>T	c.(1963-1965)Gcg>Tcg	p.A655S	PRDM16_ENST00000442529.2_Missense_Mutation_p.A654S|PRDM16_ENST00000441472.2_Missense_Mutation_p.A654S|PRDM16_ENST00000514189.1_Missense_Mutation_p.A655S|PRDM16_ENST00000511072.1_Missense_Mutation_p.A655S|PRDM16_ENST00000378391.2_Missense_Mutation_p.A654S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.A654S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	654					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCGGCTTGGCGCCCCCGGG	0.682			T	EVI1	"MDS, AML"								19	45					0.00074312	0.000764795	1	0	T	3328721	G	T	3328721	3	4	495	1	0	0	0	0	1	0	0	0	12537	1203	42	4	1994	4	PRDM16	1	3328721	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		3328721	245921900	1	95982											
SPEN	23013	broad.mit.edu	37	chr1	16256784	16256784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaaacaggatgctggcaGatttgatgtgagtttcccaa	12	11	12	6	0	0	4	0	3	0	1	1	6	1	5	1	2	2	3	1	2	2	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:16256784G>A	ENST00000375759.3	+	11	4253	c.4049G>A	c.(4048-4050)aGa>aAa	p.R1350K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1350					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGCTGGCAGATTTGATGTG	0.418													24	49					0	0	0	0	A	16256784	G	A	16256784	3	1	495	1	0	0	0	0	1	0	0	0	15128	942	33	2	4091	2	SPEN	1	16256784	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	12928063	16256784	232993837	2	95983											
DMAP1	55929	broad.mit.edu	37	chr1	44680075	44680075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaggcccgagggcatGcaccgggaagtctatgcctt	9	8	13	11	2	2	1	1	0	1	1	2	3	2	2	3	3	2	2	3	3	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:44680075G>A	ENST00000372289.2	+	2	422	c.159G>A	c.(157-159)atG>atA	p.M53I	DMAP1_ENST00000315913.5_Missense_Mutation_p.M53I|DMAP1_ENST00000361745.6_Missense_Mutation_p.M53I	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	53					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CCGAGGGCATGCACCGGGAAG	0.512													5	146					0	0	0	0	A	44680075	G	A	44680075	3	1	495	1	0	0	0	0	1	0	0	0	4613	1319	46	4	165	4	DMAP1	1	44680075	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	28423291	44680075	204570546	3	95984											
NEGR1	257194	broad.mit.edu	37	chr1	72748110	72748110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtagcaggcagcacaggCtgaggagcaccgccgccagc	10	2	16	13	2	0	1	0	1	0	0	0	2	0	2	3	4	4	6	3	4	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:72748110C>A	ENST00000357731.4	-	1	307	c.68G>T	c.(67-69)aGc>aTc	p.S23I	NEGR1_ENST00000434200.1_Missense_Mutation_p.S21I	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	23					cell adhesion	anchored to membrane|plasma membrane		p.S23N(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCAGCACAGGCTGAGGAGCAC	0.627													4	36					0.00024832	0.000256632	1	0	A	72748110	C	A	72748110	3	1	495	1	0	0	0	0	1	0	0	0	10387	797	28	4	1024	4	NEGR1	1	72748110	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	28068035	72748110	176502511	4	95985											
FAM73A	374986	broad.mit.edu	37	chr1	78279491	78279491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaatagacaggctgaagAtgaagcctgtggttccatta	12	10	11	8	1	0	4	0	2	0	2	2	4	1	4	2	2	1	3	2	2	5	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:78279491A>G	ENST00000370791.3	+	6	742	c.710A>G	c.(709-711)gAt>gGt	p.D237G	FAM73A_ENST00000443751.2_Missense_Mutation_p.D199G	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	237						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CAGGCTGAAGATGAAGCCTGT	0.393													7	113					0	0	0	0	G	78279491	A	G	78279491	3	3	495	1	0	0	0	0	1	0	0	0	5663	333	12	5	732	5	FAM73A	1	78279491	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	5531381	78279491	170971130	5	95986											
PHTF1	10745	broad.mit.edu	37	chr1	114240338	114240338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactcagcttatgatttaaTtttccacagctaagagaaca	14	14	5	8	0	1	2	1	1	0	1	2	3	2	2	1	0	4	2	1	0	5	7			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:114240338T>C	ENST00000369604.1	-	19	2761	c.2278A>G	c.(2278-2280)Att>Gtt	p.I760V	PHTF1_ENST00000369598.1_Missense_Mutation_p.I715V|PHTF1_ENST00000393357.2_Missense_Mutation_p.I760V|PHTF1_ENST00000369600.1_Missense_Mutation_p.I707V|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.I707V			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	760						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	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)		TATGATTTAATTTTCCACAGC	0.383													15	30					0	0	0	0	C	114240338	T	C	114240338	3	2	495	1	0	0	0	0	1	0	0	0	11934	1493	52	5	14	5	PHTF1	1	114240338	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	35960847	114240338	135010283	6	95987											
PTGFRN	5738	broad.mit.edu	37	chr1	117503896	117503896	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtacctgaatgcttcCaaggtccccgggtttgcgga	7	10	13	11	2	0	1	0	1	0	0	2	2	2	2	4	4	3	3	4	4	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:117503896C>G	ENST00000393203.2	+	5	1392	c.1245C>G	c.(1243-1245)tcC>tcG	p.S415S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	415	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGAATGCTTCCAAGGTCCCCG	0.512													20	58					0	0	0	0	G	117503896	C	G	117503896	2	3	495	1	0	0	0	0	0	0	0	1	12830	581	21	4		4	PTGFRN	1	117503896	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	3263558	117503896	131746725	7	95988											
COPA	1314	broad.mit.edu	37	chr1	160309984	160309984	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaccatcatgttcatcAaacttgtcaatgagagtgca	13	12	6	10	0	5	1	5	1	1	1	6	2	5	1	1	0	2	2	1	0	2	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:160309984A>G	ENST00000241704.7	-	2	370	c.141T>C	c.(139-141)ttT>ttC	p.F47F	COPA_ENST00000368069.3_Silent_p.F47F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	47					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGTTCATCAAACTTGTCAA	0.403													19	84					0	0	0	0	G	160309984	A	G	160309984	2	3	495	1	0	0	0	0	0	0	0	1	3757	127	5	5		5	COPA	1	160309984	Silent	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	42806088	160309984	88940637	8	95989											
TNR	7143	broad.mit.edu	37	chr1	175348837	175348837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaggctggttgctgtgCgagaaccaactcgcaagttc	9	9	13	10	2	1	1	1	0	0	1	3	2	1	1	1	3	4	5	1	3	4	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:175348837C>T	ENST00000367674.1	-	9	2522	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	TNR_ENST00000263525.2_Missense_Mutation_p.R605H	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	605	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTTGCTGTGCGAGAACCAAC	0.478													19	57					0	0	0	0	T	175348837	C	T	175348837	3	4	495	1	0	0	0	0	1	0	0	0	16432	768	27	1	2322	1	TNR	1	175348837	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	15038853	175348837	73901784	9	95990											
RASAL2	9462	broad.mit.edu	37	chr1	178423653	178423653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatggggtggaatgaagcGctttcttttggagatctcta	9	14	13	5	1	2	3	0	2	2	1	3	5	2	4	0	4	1	1	0	4	4	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:178423653G>A	ENST00000448150.3	+	12	2845	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	RASAL2_ENST00000462775.1_Missense_Mutation_p.R546H|RASAL2_ENST00000367649.3_Missense_Mutation_p.R694H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	546					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGAATGAAGCGCTTTCTTTTG	0.408													29	132					0	0	0	0	A	178423653	G	A	178423653	3	1	495	1	0	0	0	0	1	0	0	0	13146	1087	38	1	2144	1	RASAL2	1	178423653	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	3074816	178423653	70826968	10	95991											
CRB1	23418	broad.mit.edu	37	chr1	197297973	197297973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaatggggccgtgtgccaGgatggaattgatggttactc	10	10	14	7	1	0	1	0	1	0	0	1	3	0	3	2	5	2	1	2	5	4	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:197297973G>C	ENST00000367400.3	+	2	627	c.492G>C	c.(490-492)caG>caC	p.Q164H	CRB1_ENST00000538660.1_Missense_Mutation_p.Q164H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q164H|CRB1_ENST00000535699.1_Missense_Mutation_p.Q95H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	164	EGF-like 4; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCGTGTGCCAGGATGGAATTG	0.512													10	44					0	0	0	0	C	197297973	G	C	197297973	3	2	495	1	0	0	0	0	1	0	0	0	3878	991	35	4	498	4	CRB1	1	197297973	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	18874320	197297973	51952648	11	95992											
NLRP3	114548	broad.mit.edu	37	chr1	247588477	247588477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtatttgatttttgttgtaCgtttcctctttggcctggta	4	21	10	6	1	1	1	0	1	1	0	2	1	2	1	2	3	1	5	2	3	3	9			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:247588477C>T	ENST00000366497.2	+	4	2512	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R578C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R578C|NLRP3_ENST00000348069.2_Missense_Mutation_p.R578C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R578C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R578C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	578					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			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)			TTTTGTTGTACGTTTCCTCTT	0.463													21	79					0	0	0	0	T	247588477	C	T	247588477	3	4	495	1	0	0	0	0	1	0	0	0	10548	536	19	1	1742	1	NLRP3	1	247588477	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	50290504	247588477	1662144	12	95993											
MEMO1	51072	broad.mit.edu	37	chr2	32108493	32108493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggatctataaatctcccCctgggattcatcatagtaac	13	12	6	10	0	4	0	2	0	2	0	5	2	4	2	2	2	1	1	2	2	6	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:32108493C>A	ENST00000295065.4	-	7	928	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	MEMO1_ENST00000490459.1_Intron|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.G184W|MEMO1_ENST00000379383.3_Missense_Mutation_p.G210W|MEMO1_ENST00000404530.1_Missense_Mutation_p.G207W	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	207					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TAAATCTCCCCCTGGGATTCA	0.318													85	250					7.15876e-41	8.58357e-41	1	0	A	32108493	C	A	32108493	3	1	495	1	0	0	0	0	1	0	0	0	9540	623	22	4	286	4	MEMO1	2	32108493	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08		32108493	211090880	13	95994											
NFU1	27247	broad.mit.edu	37	chr2	69627580	69627580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgattgaactagggcaGctggtacaagaaccctggag	13	8	13	7	0	0	3	0	2	0	1	0	4	0	4	1	3	4	4	1	3	6	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:69627580G>A	ENST00000410022.2	-	7	841	c.636C>T	c.(634-636)agC>agT	p.S212S	NFU1_ENST00000471185.1_Intron|NFU1_ENST00000462320.1_Silent_p.S71S|NFU1_ENST00000394305.1_Silent_p.S71S|NFU1_ENST00000303698.3_Silent_p.S188S	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	212	NifU.				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						AACTAGGGCAGCTGGTACAAG	0.438													57	206					0	0	0	0	A	69627580	G	A	69627580	2	1	495	1	0	0	0	0	0	0	0	1	10456	962	34	4		4	NFU1	2	69627580	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	37519087	69627580	173571793	14	95995											
ANKRD53	79998	broad.mit.edu	37	chr2	71206427	71206427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaacgtggaatggctgcGattctgtctgaaccagagcc	9	8	14	10	2	2	2	0	1	2	1	2	4	2	3	2	3	4	2	2	3	3	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:71206427G>A	ENST00000272421.6	+	2	637	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	ANKRD53_ENST00000457410.1_Missense_Mutation_p.R90Q|ANKRD53_ENST00000441349.1_Missense_Mutation_p.R90Q|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000360589.3_Missense_Mutation_p.R124Q	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	124										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GAATGGCTGCGATTCTGTCTG	0.607													37	104					0	0	0	0	A	71206427	G	A	71206427	3	1	495	1	0	0	0	0	1	0	0	0	678	1058	37	1	377	1	ANKRD53	2	71206427	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	1578847	71206427	171992946	15	95996											
ASTL	431705	broad.mit.edu	37	chr2	96803345	96803345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaatgtccttgtccccGgaggcctgggttccctcagg	5	9	14	13	1	1	0	1	0	0	0	4	2	4	2	5	5	0	2	5	5	1	2	rs142516442	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:96803345G>A	ENST00000342380.2	-	2	149	c.150C>T	c.(148-150)tcC>tcT	p.S50S		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	50					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTTGTCCCCGGAGGCCTGGG	0.602													60	102					0	0	0	0	A	96803345	G	A	96803345	2	1	495	1	0	0	0	0	0	0	0	1	1067	1103	39	1		1	ASTL	2	96803345	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	25596918	96803345	146396028	16	95997											
GTDC1	79712	broad.mit.edu	37	chr2	144966262	144966262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgcaggaagggtataaacGacacagtctcctaactcttc	12	11	8	10	1	2	0	0	0	2	0	4	2	2	1	1	2	3	2	1	2	5	5	rs146914833	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:144966262G>A	ENST00000409214.1	-	4	365	c.87C>T	c.(85-87)gtC>gtT	p.V29V	GTDC1_ENST00000542155.1_Silent_p.V29V|GTDC1_ENST00000392867.3_Silent_p.V29V|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000409298.1_Silent_p.V29V|GTDC1_ENST00000241391.5_Silent_p.V29V|GTDC1_ENST00000344850.4_Silent_p.V29V|GTDC1_ENST00000392869.1_Silent_p.V29V	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	29					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GGGTATAAACGACACAGTCTC	0.438													21	33					0	0	0	0	A	144966262	G	A	144966262	2	1	495	1	0	0	0	0	0	0	0	1	6901	1045	37	1		1	GTDC1	2	144966262	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	48162917	144966262	98233111	17	95998											
FAP	2191	broad.mit.edu	37	chr2	163029373	163029373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctttagcaatctgtgctGagttttgaaagtgcacatta	11	14	10	6	0	1	2	0	2	1	0	1	3	1	2	0	0	4	5	0	0	4	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:163029373G>A	ENST00000188790.4	-	25	2336	c.2129C>T	c.(2128-2130)tCa>tTa	p.S710L	FAP_ENST00000443424.1_Missense_Mutation_p.S685L|AC007750.5_ENST00000418968.2_RNA	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	710					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AATCTGTGCTGAGTTTTGAAA	0.398													22	49					0	0	0	0	A	163029373	G	A	163029373	3	1	495	1	0	0	0	0	1	0	0	0	5718	1294	45	2	161	2	FAP	2	163029373	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	18063111	163029373	80170000	18	95999											
DLX1	1745	broad.mit.edu	37	chr2	172950420	172950420	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagatgaccatgaccacCatgccagaaagtctcaacag	16	5	9	11	0	1	4	1	2	1	2	2	6	1	4	4	0	2	0	4	0	3	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:172950420C>T	ENST00000361725.4	+	1	467	c.15C>T	c.(13-15)acC>acT	p.T5T	DLX1_ENST00000341900.6_Silent_p.T5T	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	5						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCATGACCACCATGCCAGAAA	0.572													4	78					0	0	0	0	T	172950420	C	T	172950420	2	4	495	1	0	0	0	0	0	0	0	1	4607	581	21	4		4	DLX1	2	172950420	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	9921047	172950420	70248953	19	96000											
TTN	7273	broad.mit.edu	37	chr2	179417916	179417916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatattttcctgtatcattgCgagtaacttgaggaatggtg	10	16	10	5	1	1	1	1	1	0	0	2	3	2	2	1	2	2	2	1	2	5	8			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:179417916C>G	ENST00000589042.1	-	335	89935	c.89711G>C	c.(89710-89712)cGc>cCc	p.R29904P	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20964P|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20839P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R28263P|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27336P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21031P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28263	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATCATTGCGAGTAACTTG	0.408													37	71					0	0	0	0	G	179417916	C	G	179417916	3	3	495	1	0	0	0	0	1	0	0	0	16831	768	27	3	18380	3	TTN	2	179417916	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	6467496	179417916	63781457	20	96001											
HSPE1	3336	broad.mit.edu	37	chr2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacattcttggaaagtacGtagactgaaataagtcacta	15	11	9	6	1	2	3	1	2	1	1	2	4	2	4	0	1	1	2	0	1	6	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPE1_ENST00000465573.1_3'UTR|MOB4_ENST00000604458.1_Intron	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328													4	132					0	0	0	0	A	198367975	G	A	198367975	3	1	495	1	0	0	0	0	1	0	0	0	7482	1145	40	1	315	1	HSPE1	2	198367975	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	18950059	198367975	44831398	21	96002											
STRADB	55437	broad.mit.edu	37	chr2	202343121	202343121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctccttatagcccattGgatatcagtattttccctca	8	15	6	12	0	2	0	2	0	0	0	5	1	5	1	4	2	1	1	4	2	4	7			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:202343121G>A	ENST00000194530.3	+	10	1232	c.867G>A	c.(865-867)ttG>ttA	p.L289L	STRADB_ENST00000392249.2_Silent_p.L289L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	289	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATAGCCCATTGGATATCAGTA	0.388													34	86					0	0	0	0	A	202343121	G	A	202343121	2	1	495	1	0	0	0	0	0	0	0	1	15415	1339	47	4		4	STRADB	2	202343121	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	3975146	202343121	40856252	22	96003											
OR6B3	150681	broad.mit.edu	37	chr2	240984708	240984708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatcaatggcctggggcCggacatacatgaaaagcaag	14	5	14	8	1	1	1	1	1	0	0	1	3	1	3	2	5	2	1	2	5	6	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:240984708C>A	ENST00000319423.4	-	1	781	c.782G>T	c.(781-783)cGg>cTg	p.R261L		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCCTGGGGCCGGACATACAT	0.542													42	61					4.00102e-26	4.70596e-26	1	0	A	240984708	C	A	240984708	3	1	495	1	0	0	0	0	1	0	0	0	11260	652	23	3	216	3	OR6B3	2	240984708	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	38641587	240984708	2214665	23	96004											
GRM7	2917	broad.mit.edu	37	chr3	7721970	7721970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccgagctctgtgaaaacGtagacccaaacagtaagtaa	17	6	9	9	2	1	3	0	1	1	2	1	4	1	3	2	0	3	4	2	0	6	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:7721970G>A	ENST00000486284.1	+	9	2960	c.2686G>A	c.(2686-2688)Gta>Ata	p.V896I	GRM7_ENST00000389336.4_Missense_Mutation_p.V896I|GRM7_ENST00000402647.2_Missense_Mutation_p.V896I|GRM7_ENST00000357716.4_Missense_Mutation_p.V896I|GRM7_ENST00000403881.1_Missense_Mutation_p.V896I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	896					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.V896I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTGTGAAAACGTAGACCCAAA	0.512													24	11					0	0	0	0	A	7721970	G	A	7721970	3	1	495	1	0	0	0	0	1	0	0	0	6852	1145	40	1	2720	1	GRM7	3	7721970	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		7721970	190300460	24	96005											
FGD5	152273	broad.mit.edu	37	chr3	14861572	14861572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagattgtcccttttgagAatgactgcatggaggacttc	9	12	11	9	0	0	3	0	2	0	2	2	6	1	5	2	2	1	1	2	2	1	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:14861572A>T	ENST00000285046.5	+	1	1104	c.994A>T	c.(994-996)Aat>Tat	p.N332Y	FGD5_ENST00000543601.1_Missense_Mutation_p.N91Y	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	332					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCTTTTGAGAATGACTGCAT	0.547													156	28					0	0	0	0	T	14861572	A	T	14861572	3	4	495	1	0	0	0	0	1	0	0	0	5881	246	9	5	996	5	FGD5	3	14861572	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	7139602	14861572	183160858	25	96006											
RBM15B	29890	broad.mit.edu	37	chr3	51429757	51429757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctggactactacgggctGtacgacgaccgtgggcgccc	6	6	14	15	5	0	0	0	0	0	0	0	3	0	1	3	3	3	2	3	3	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:51429757G>T	ENST00000323686.4	+	1	1027	c.927G>T	c.(925-927)ctG>ctT	p.L309L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	309					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTACGGGCTGTACGACGACC	0.697													19	13					5.03518e-11	5.60221e-11	1	0	T	51429757	G	T	51429757	2	4	495	1	0	0	0	0	0	0	0	1	13199	1364	48	4		4	RBM15B	3	51429757	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	36568185	51429757	146592673	26	96007											
OR5H6	79295	broad.mit.edu	37	chr3	97983223	97983223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacagagtttgttctcacagGatttttacatcaacctgact	11	14	7	9	0	2	2	2	1	1	1	3	4	2	3	1	1	2	2	1	1	2	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:97983223G>A	ENST00000383696.2	+	1	136	c.95G>A	c.(94-96)gGa>gAa	p.G32E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTTCTCACAGGATTTTTACAT	0.398													219	215					0	0	0	0	A	97983223	G	A	97983223	3	1	495	1	0	0	0	0	1	0	0	0	11234	1174	41	2	97	2	OR5H6	3	97983223	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	46553466	97983223	100039207	27	96008											
ABI3BP	25890	broad.mit.edu	37	chr3	100569567	100569567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggatagaatccagaatacGatcacttgttgctgttggaa	12	12	11	6	1	1	2	1	0	0	2	2	5	2	4	1	2	2	3	1	2	5	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:100569567G>A	ENST00000471714.1	-	16	1493	c.1384C>T	c.(1384-1386)Cgt>Tgt	p.R462C	ABI3BP_ENST00000495063.1_Missense_Mutation_p.R462C|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R413C			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	424	Pro-rich.					extracellular space		p.R413C(1)		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						TCCAGAATACGATCACTTGTT	0.343													17	73					0	0	0	0	A	100569567	G	A	100569567	3	1	495	1	0	0	0	0	1	0	0	0	91	1058	37	1	2078	1	ABI3BP	3	100569567	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	2586344	100569567	97452863	28	96009											
IMPG2	50939	broad.mit.edu	37	chr3	100962998	100962998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaggcagagattgctacaGatgtcagtataagaggtgct	13	10	13	5	0	1	4	1	0	0	4	1	5	1	4	0	2	3	4	0	2	4	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:100962998G>A	ENST00000193391.7	-	13	2364	c.2177C>T	c.(2176-2178)tCt>tTt	p.S726F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	726					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTGCTACAGATGTCAGTAT	0.433													35	70					0	0	0	0	A	100962998	G	A	100962998	3	1	495	1	0	0	0	0	1	0	0	0	7782	942	33	2	1576	2	IMPG2	3	100962998	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	393431	100962998	97059432	29	96010											
MORC1	27136	broad.mit.edu	37	chr3	108813786	108813786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagatcacatcaaactgctGcatcaattctgcttcagttt	12	14	5	10	0	5	1	4	0	1	1	5	1	5	1	0	0	4	4	0	0	3	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:108813786G>T	ENST00000232603.5	-	7	635	c.553C>A	c.(553-555)Cag>Aag	p.Q185K	MORC1_ENST00000483760.1_Missense_Mutation_p.Q185K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	185					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAAACTGCTGCATCAATTCT	0.338													26	255					4.22769e-11	4.72507e-11	1	0	T	108813786	G	T	108813786	3	4	495	1	0	0	0	0	1	0	0	0	9771	1328	46	4	2489	4	MORC1	3	108813786	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	7850788	108813786	89208644	30	96011											
CD200R1	131450	broad.mit.edu	37	chr3	112647686	112647686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagctctatgtacagaCtcttgttgccagtcaaatgg	11	12	10	8	0	3	1	1	0	2	1	3	2	3	1	1	1	3	4	1	1	5	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:112647686C>T	ENST00000471858.1	-	4	909	c.677G>A	c.(676-678)aGt>aAt	p.S226N	CD200R1_ENST00000295863.4_Missense_Mutation_p.S204N|CD200R1_ENST00000308611.3_Missense_Mutation_p.S249N	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	226	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TATGTACAGACTCTTGTTGCC	0.388													48	114					0	0	0	0	T	112647686	C	T	112647686	3	4	495	1	0	0	0	0	1	0	0	0	3010	565	20	4	316	4	CD200R1	3	112647686	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	3833900	112647686	85374744	31	96012											
BOC	91653	broad.mit.edu	37	chr3	112991400	112991400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaggatgggtccagtGtcaccggctacaacaagacg	11	5	14	11	2	1	1	1	0	0	1	2	2	2	2	3	4	2	1	3	4	4	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:112991400G>A	ENST00000495514.1	+	7	1515	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	BOC_ENST00000355385.3_Missense_Mutation_p.V271I|BOC_ENST00000273395.4_Missense_Mutation_p.V271I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	271	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGGGTCCAGTGTCACCGGCTA	0.602													97	248					0	0	0	0	A	112991400	G	A	112991400	3	1	495	1	0	0	0	0	1	0	0	0	1486	1377	48	4	829	4	BOC	3	112991400	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	343714	112991400	85031030	32	96013											
SEMA5B	54437	broad.mit.edu	37	chr3	122642502	122642502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggctatggggagccaggCagccctggggttctcctggt	4	10	17	10	0	1	0	0	0	1	0	2	1	1	1	3	7	2	4	3	7	1	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:122642502C>A	ENST00000195173.4	-	10	1537	c.1234G>T	c.(1234-1236)Gcc>Tcc	p.A412S	SEMA5B_ENST00000357599.3_Missense_Mutation_p.A412S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A466S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	412	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGAGCCAGGCAGCCCTGGGG	0.562													16	119					6.72482e-11	7.41532e-11	1	0	A	122642502	C	A	122642502	3	1	495	1	0	0	0	0	1	0	0	0	14125	710	25	4	2277	4	SEMA5B	3	122642502	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	9651102	122642502	75379928	33	96014											
ADCY5	111	broad.mit.edu	37	chr3	123166599	123166599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtagggcagctggagcGggggccgcgccgcgtggaag	6	3	21	11	5	0	0	0	0	0	0	0	2	0	2	3	6	2	3	3	6	2	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:123166599G>A	ENST00000462833.1	-	1	2006	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	265					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGCTGGAGCGGGGGCCGCGC	0.672													31	69					0	0	0	0	A	123166599	G	A	123166599	3	1	495	1	0	0	0	0	1	0	0	0	297	1116	39	1	3075	1	ADCY5	3	123166599	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	524097	123166599	74855831	34	96015											
PPM1L	151742	broad.mit.edu	37	chr3	160786652	160786652	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggaatcctggccatgTctcggtccctgggggattat	6	11	13	11	1	1	0	0	0	1	0	5	2	4	2	4	5	0	0	4	5	2	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:160786652T>G	ENST00000498165.1	+	4	891	c.790T>G	c.(790-792)Tct>Gct	p.S264A	PPM1L_ENST00000464260.1_Missense_Mutation_p.S85A|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.S137A	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	264	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CCTGGCCATGTCTCGGTCCCT	0.512													16	114					0	0	0	0	G	160786652	T	G	160786652	3	3	495	1	0	0	0	0	1	0	0	0	12420	1667	58	5	804	5	PPM1L	3	160786652	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	37620053	160786652	37235778	35	96016											
SI	6476	broad.mit.edu	37	chr3	164737395	164737395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgttggtacctacaccagGgggttggtctcttgtgaaca	8	13	12	8	0	1	1	0	1	1	0	2	1	1	1	2	4	3	3	2	4	4	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:164737395G>A	ENST00000264382.3	-	28	3480	c.3418C>T	c.(3418-3420)Cct>Tct	p.P1140S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1140	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCTACACCAGGGGGTTGGTCT	0.443										HNSCC(35;0.089)			30	97					0	0	0	0	A	164737395	G	A	164737395	3	1	495	1	0	0	0	0	1	0	0	0	14385	1232	43	4	2149	4	SI	3	164737395	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	3950743	164737395	33285035	36	96017											
ECT2	1894	broad.mit.edu	37	chr3	172486831	172486831	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtactaagtcttctaaaagCtccactccagttccttcaaa	12	13	4	12	0	3	0	1	0	2	0	6	0	6	0	3	0	2	3	3	0	5	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:172486831C>T	ENST00000417960.1	+	13	1707	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	ECT2_ENST00000540509.1_Silent_p.S442S|ECT2_ENST00000427830.1_Silent_p.S411S|ECT2_ENST00000232458.5_Silent_p.S411S|ECT2_ENST00000441497.2_Silent_p.S411S|ECT2_ENST00000392692.3_Silent_p.S442S	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	411					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CTTCTAAAAGCTCCACTCCAG	0.348													42	89					0	0	0	0	T	172486831	C	T	172486831	2	4	495	1	0	0	0	0	0	0	0	1	4937	796	28	4		4	ECT2	3	172486831	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	7749436	172486831	25535599	37	96018											
ECE2	9718	broad.mit.edu	37	chr3	184005706	184005706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggtccctcttcgtgaagGccacgtttgaccggcaaagc	7	9	13	12	3	1	2	0	2	1	0	3	2	2	2	3	4	1	2	3	4	2	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:184005706G>A	ENST00000402825.3	+	11	1699	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	ECE2_ENST00000404464.3_Missense_Mutation_p.A449T|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.A495T|ECE2_ENST00000359140.4_Missense_Mutation_p.A420T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	567	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTTCGTGAAGGCCACGTTTGA	0.478													22	120					0	0	0	0	A	184005706	G	A	184005706	3	1	495	1	0	0	0	0	1	0	0	0	4926	1203	42	4	2305	4	ECE2	3	184005706	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	11518875	184005706	14016724	38	96019											
CLCN2	1181	broad.mit.edu	37	chr3	184073265	184073265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctccaccaggccctggCggacccacgtccgattgtca	6	7	10	18	3	1	0	1	0	0	0	4	2	4	1	6	3	0	1	6	3	0	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:184073265C>T	ENST00000265593.4	-	12	1394	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	CLCN2_ENST00000475279.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408H|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49H|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364H|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	408						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGCCCTGGCGGACCCACGT	0.587													25	161					0	0	0	0	T	184073265	C	T	184073265	3	4	495	1	0	0	0	0	1	0	0	0	3493	768	27	1	1525	1	CLCN2	3	184073265	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	67559	184073265	13949165	39	96020											
PIGX	54965	broad.mit.edu	37	chr3	196449419	196449419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcattacgagagagaaacAtaacagaggtacagttatta	17	10	8	6	1	1	3	1	0	0	3	1	5	1	3	0	1	4	2	0	1	6	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:196449419A>T	ENST00000314118.4	+	3	469	c.187A>T	c.(187-189)Ata>Tta	p.I63L	PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000421265.1_Missense_Mutation_p.I63L	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	104					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		AGAGAGAAACATAACAGAGGT	0.383													54	313					0	0	0	0	T	196449419	A	T	196449419	3	4	495	1	0	0	0	0	1	0	0	0	11975	217	8	5	320	5	PIGX	3	196449419	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	12376154	196449419	1573011	40	96021											
PDGFRA	5156	broad.mit.edu	37	chr4	55133835	55133835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcccaggatatcctggCtgaaaaacaatctgactctg	12	9	7	13	0	2	2	0	2	2	0	4	3	4	3	3	2	1	1	3	2	4	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:55133835C>A	ENST00000257290.5	+	7	1379	c.1048C>A	c.(1048-1050)Ctg>Atg	p.L350M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	350	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GATATCCTGGCTGAAAAACAA	0.448			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			18	62					2.35188e-11	2.64052e-11	1	0	A	55133835	C	A	55133835	3	1	495	1	0	0	0	0	1	0	0	0	11732	796	28	4	1070	4	PDGFRA	4	55133835	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08		55133835	136020441	41	96022											
EPHA5	2044	broad.mit.edu	37	chr4	66286159	66286159	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttattctgttagtcttacCttttcaaaatacttgatttc	9	22	3	7	0	3	1	1	1	2	0	4	1	3	1	1	0	2	1	1	0	6	10			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:66286159C>G	ENST00000273854.3	-	6	2127	c.1527_splice	c.e6+1	p.K509_splice	EPHA5_ENST00000432638.2_Splice_Site_p.K345_splice|EPHA5_ENST00000354839.4_Splice_Site_p.K509_splice|EPHA5_ENST00000511294.1_Splice_Site_p.K509_splice	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	509	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTAGTCTTACCTTTTCAAAAT	0.318										TSP Lung(17;0.13)			34	42					0	0	0	0	G	66286159	C	G	66286159	5	3	495	1	0	0	0	0	0	0	1	0	5208	695	24	4	1638	4	EPHA5	4	66286159	Splice_Site	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	11152324	66286159	124868117	42	96023											
ALB	213	broad.mit.edu	37	chr4	74270112	74270112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattccaggggtgtgtttcGtcgagatgcacgtaagaaat	10	13	12	6	3	0	2	0	0	0	2	3	3	1	2	1	2	1	3	1	2	3	4	rs72552709		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:74270112G>A	ENST00000295897.4	+	1	157	c.68G>A	c.(67-69)cGt>cAt	p.R23H	ALB_ENST00000503124.1_5'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.R23H|ALB_ENST00000509063.1_Missense_Mutation_p.R23H|ALB_ENST00000415165.2_Missense_Mutation_p.R23H	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	23	Albumin 1.		R -> C (in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill).|R -> H (in Fukuoka-2/Lille/Taipei/Varese/ Komagome-3).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGTGTGTTTCGTCGAGATGCA	0.368													23	101					0	0	0	0	A	74270112	G	A	74270112	3	1	495	1	0	0	0	0	1	0	0	0	486	1145	40	1	70	1	ALB	4	74270112	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	7983953	74270112	116884164	43	96024											
THAP6	152815	broad.mit.edu	37	chr4	76442057	76442057	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtgaatgcagccggcatTtgggagcctaaaaaaggaga	14	7	14	6	1	0	2	0	1	0	1	0	5	0	3	2	3	3	2	2	3	4	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:76442057T>G	ENST00000311638.3	+	3	224	c.156T>G	c.(154-156)atT>atG	p.I52M	THAP6_ENST00000507556.1_Missense_Mutation_p.I52M|THAP6_ENST00000504190.1_Missense_Mutation_p.I11M|THAP6_ENST00000508105.1_Missense_Mutation_p.I11M|THAP6_ENST00000502620.1_Missense_Mutation_p.I11M|THAP6_ENST00000507557.1_Missense_Mutation_p.I11M|THAP6_ENST00000507885.1_Missense_Mutation_p.I11M|THAP6_ENST00000514480.1_Missense_Mutation_p.I52M|THAP6_ENST00000380837.3_Missense_Mutation_p.I52M	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	52						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CAGCCGGCATTTGGGAGCCTA	0.363													27	90					0	0	0	0	G	76442057	T	G	76442057	3	3	495	1	0	0	0	0	1	0	0	0	15942	1829	64	5	162	5	THAP6	4	76442057	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	2171945	76442057	114712219	44	96025											
FRAS1	80144	broad.mit.edu	37	chr4	79461950	79461950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgtcacagactggggCgtccattggcagtgccctgg	5	9	14	13	1	1	1	1	0	0	1	3	1	3	1	3	4	1	1	3	4	0	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:79461950C>T	ENST00000264895.6	+	74	12151	c.11711C>T	c.(11710-11712)gCg>gTg	p.A3904V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3899					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGACTGGGGCGTCCATTGGC	0.493													7	40					0	0	0	0	T	79461950	C	T	79461950	3	4	495	1	0	0	0	0	1	0	0	0	6089	768	27	1	12080	1	FRAS1	4	79461950	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	3019893	79461950	111692326	45	96026											
PKD2	5311	broad.mit.edu	37	chr4	88986917	88986917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctctctaatttcaggaaGggccatactgatgcagagat	11	11	9	10	0	3	2	1	1	2	1	4	4	3	3	2	2	2	1	2	2	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:88986917G>A	ENST00000237596.2	+	12	2310	c.2244G>A	c.(2242-2244)aaG>aaA	p.K748K	PKD2_ENST00000508588.1_Silent_p.K166K|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Silent_p.K166K	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	748	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTTCAGGAAGGGCCATACTG	0.433													57	70					0	0	0	0	A	88986917	G	A	88986917	2	1	495	1	0	0	0	0	0	0	0	1	12038	991	35	4		4	PKD2	4	88986917	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	9524967	88986917	102167359	46	96027											
HERC6	55008	broad.mit.edu	37	chr4	89345072	89345072	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acataaatgaactctccaacTtattaaacttttatatagat	17	15	2	7	0	1	2	0	1	1	1	2	2	1	2	1	0	3	0	1	0	10	7			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:89345072T>G	ENST00000380265.5	+	14	1957	c.1774T>G	c.(1774-1776)Tta>Gta	p.L592V	HERC6_ENST00000264346.7_Missense_Mutation_p.L592V	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	592					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ACTCTCCAACTTATTAAACTT	0.303													3	17					0	0	0	0	G	89345072	T	G	89345072	3	3	495	1	0	0	0	0	1	0	0	0	7112	1606	56	5	1625	5	HERC6	4	89345072	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	358155	89345072	101809204	47	96028											
GRID2	2895	broad.mit.edu	37	chr4	94690472	94690472	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaaagcagaaaggaggCgccctggacataaagagctt	16	4	12	9	1	0	2	0	0	0	2	0	5	0	4	1	3	2	2	1	3	4	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:94690472C>T	ENST00000282020.4	+	15	2730	c.2472C>T	c.(2470-2472)ggC>ggT	p.G824G	GRID2_ENST00000510992.1_Silent_p.G729G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	824					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAAGGAGGCGCCCTGGACA	0.512													11	70					0	0	0	0	T	94690472	C	T	94690472	2	4	495	1	0	0	0	0	0	0	0	1	6822	755	27	1		1	GRID2	4	94690472	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	5345400	94690472	96463804	48	96029											
MTTP	4547	broad.mit.edu	37	chr4	100532497	100532497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcatcaggtagtcccCgttcggcatctacttacagc	7	12	10	12	2	3	0	2	0	1	0	5	0	4	0	2	2	3	3	2	2	3	4	rs148696330		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:100532497C>T	ENST00000457717.1	+	15	2132	c.1876C>T	c.(1876-1878)Cgt>Tgt	p.R626C	MTTP_ENST00000511045.1_Missense_Mutation_p.R653C|MTTP_ENST00000265517.5_Missense_Mutation_p.R626C|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	626	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.R626C(1)|p.R626S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGGTAGTCCCCGTTCGGCATC	0.443													42	183					0	0	0	0	T	100532497	C	T	100532497	3	4	495	1	0	0	0	0	1	0	0	0	10034	652	23	1	1930	1	MTTP	4	100532497	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	5842025	100532497	90621779	49	96030											
SPRY1	10252	broad.mit.edu	37	chr4	124322817	124322817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttctttggatagccGtcagagattagactatgaga	11	11	11	8	1	2	3	1	1	1	3	2	6	2	4	2	1	2	1	2	1	3	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:124322817G>A	ENST00000394339.2	+	2	411	c.71G>A	c.(70-72)cGt>cAt	p.R24H	SPRY1_ENST00000339241.1_Missense_Mutation_p.R24H	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	24					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTGGATAGCCGTCAGAGATTA	0.463													5	218					0	0	0	0	A	124322817	G	A	124322817	3	1	495	1	0	0	0	0	1	0	0	0	15195	1145	40	1	73	1	SPRY1	4	124322817	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	23790320	124322817	66831459	50	96031											
PCDH10	57575	broad.mit.edu	37	chr4	134071802	134071802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaacagctacttctccctGgacgtgcagacccaggggga	9	6	11	15	1	1	1	0	0	1	1	2	3	1	3	3	3	4	2	3	3	2	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:134071802G>A	ENST00000264360.4	+	1	1333	c.507G>A	c.(505-507)ctG>ctA	p.L169L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	169	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTTCTCCCTGGACGTGCAGA	0.637													14	71					0	0	0	0	A	134071802	G	A	134071802	2	1	495	1	0	0	0	0	0	0	0	1	11578	1335	47	4		4	PCDH10	4	134071802	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	9748985	134071802	57082474	51	96032											
FASTKD3	79072	broad.mit.edu	37	chr5	7862969	7862969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atagggtgtcaacacttttgGagcaaaatataatcttgctc	13	13	8	7	0	2	0	1	0	1	0	3	1	2	1	0	2	3	2	0	2	6	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:7862969G>C	ENST00000264669.5	-	4	1802	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	556					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AACACTTTTGGAGCAAAATAT	0.388													19	296					0	0	0	0	C	7862969	G	C	7862969	3	2	495	1	0	0	0	0	1	0	0	0	5732	1174	41	2	338	2	FASTKD3	5	7862969	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		7862969	173052291	52	96033											
CDH9	1007	broad.mit.edu	37	chr5	26906883	26906883	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaatatgctatagaccacTttggcactatttccatagtt	11	15	6	9	0	0	1	0	0	0	1	1	1	1	1	2	1	2	4	2	1	6	8			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:26906883T>A	ENST00000231021.4	-	4	760	c.588A>T	c.(586-588)aaA>aaT	p.K196N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	196	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATAGACCACTTTGGCACTAT	0.388													23	51					0	0	0	0	A	26906883	T	A	26906883	3	1	495	1	0	0	0	0	1	0	0	0	3146	1606	56	5	1817	5	CDH9	5	26906883	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	19043914	26906883	154008377	53	96034											
CDH9	1007	broad.mit.edu	37	chr5	26915930	26915930	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctagtttctttgcagcatGaatgtctcctgtattttcat	7	19	7	8	0	4	1	1	1	3	0	5	1	4	1	1	0	2	4	1	0	3	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:26915930G>C	ENST00000231021.4	-	3	503	c.331C>G	c.(331-333)Cat>Gat	p.H111D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	111	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGCAGCATGAATGTCTCCT	0.413													7	158					0	0	0	0	C	26915930	G	C	26915930	3	2	495	1	0	0	0	0	1	0	0	0	3146	1290	45	2	2078	2	CDH9	5	26915930	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	9047	26915930	153999330	54	96035											
LIFR	3977	broad.mit.edu	37	chr5	38481992	38481992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgcatctgtggcttatagCctgcccctcctacagggtca	6	11	11	13	0	2	0	1	0	1	0	3	0	3	0	4	3	4	2	4	3	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:38481992C>T	ENST00000263409.4	-	20	3161	c.2999G>A	c.(2998-3000)gGc>gAc	p.G1000D	LIFR_ENST00000453190.2_Missense_Mutation_p.G1000D	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1000					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGGCTTATAGCCTGCCCCTCC	0.458			T	PLAG1	salivary adenoma								4	95					0	0	0	0	T	38481992	C	T	38481992	3	4	495	1	0	0	0	0	1	0	0	0	8834	739	26	4	298	4	LIFR	5	38481992	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	11566062	38481992	142433268	55	96036											
ISL1	3670	broad.mit.edu	37	chr5	50687144	50687144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaactcccatggtggctGccagtccagagagacacgac	11	5	12	13	1	0	2	0	0	0	2	2	5	2	3	3	3	2	1	3	3	1	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:50687144G>T	ENST00000230658.7	+	5	1387	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Intron	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	268	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CATGGTGGCTGCCAGTCCAGA	0.527													6	30					0.0215528	0.0216404	1	0	T	50687144	G	T	50687144	3	4	495	1	0	0	0	0	1	0	0	0	7909	1319	46	4	820	4	ISL1	5	50687144	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	12205152	50687144	130228116	56	96037											
PDE8B	8622	broad.mit.edu	37	chr5	76714147	76714147	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaactctttcctctgcAatgcaggcagtgagcttgct	8	11	10	12	0	2	1	0	1	2	0	3	2	3	2	2	2	5	5	2	2	2	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:76714147A>G	ENST00000264917.5	+	18	2050	c.2005A>G	c.(2005-2007)Aat>Gat	p.N669D	PDE8B_ENST00000342343.4_Missense_Mutation_p.N649D|PDE8B_ENST00000333194.4_Missense_Mutation_p.N614D|PDE8B_ENST00000505283.1_Missense_Mutation_p.N134D|PDE8B_ENST00000340978.3_Missense_Mutation_p.N622D|PDE8B_ENST00000346042.3_Missense_Mutation_p.N572D	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	669	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TTTCCTCTGCAATGCAGGCAG	0.567													21	45					0	0	0	0	G	76714147	A	G	76714147	3	3	495	1	0	0	0	0	1	0	0	0	11725	130	5	5	2075	5	PDE8B	5	76714147	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	26027003	76714147	104201113	57	96038											
CMYA5	202333	broad.mit.edu	37	chr5	79031379	79031379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggtcaaaacgttaaagAaaaatccatgattttatcaa	18	11	6	6	2	2	3	2	2	0	1	3	3	3	3	1	1	1	1	1	1	8	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:79031379A>T	ENST00000446378.2	+	2	6822	c.6791A>T	c.(6790-6792)gAa>gTa	p.E2264V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2264						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACGTTAAAGAAAAATCCATG	0.348													26	62					0	0	0	0	T	79031379	A	T	79031379	3	4	495	1	0	0	0	0	1	0	0	0	3620	246	9	5	6797	5	CMYA5	5	79031379	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	2317232	79031379	101883881	58	96039											
NR2F1	7025	broad.mit.edu	37	chr5	92929488	92929488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcgaaactctcatccgCgatatgttactgtctgggag	9	11	9	12	3	2	0	1	0	2	0	5	3	3	1	2	1	2	1	2	1	3	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:92929488C>T	ENST00000327111.3	+	3	2899	c.1212C>T	c.(1210-1212)cgC>cgT	p.R404R	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	404					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.R404R(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTCTCATCCGCGATATGTTAC	0.582													57	114					0	0	0	0	T	92929488	C	T	92929488	2	4	495	1	0	0	0	0	0	0	0	1	10698	755	27	1		1	NR2F1	5	92929488	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	13898109	92929488	87985772	59	96040											
SLCO4C1	353189	broad.mit.edu	37	chr5	101583097	101583097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccaaaagtttctgcaGtggatgttatttctgttttc	11	16	7	7	0	2	0	0	0	2	0	3	1	2	1	1	1	2	4	1	1	5	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:101583097G>A	ENST00000310954.6	-	10	1956	c.1670C>T	c.(1669-1671)aCt>aTt	p.T557I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	557					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGTTTCTGCAGTGGATGTTAT	0.284													22	78					0	0	0	0	A	101583097	G	A	101583097	3	1	495	1	0	0	0	0	1	0	0	0	14818	1029	36	4	520	4	SLCO4C1	5	101583097	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	8653609	101583097	79332163	60	96041											
GIN1	54826	broad.mit.edu	37	chr5	102442588	102442588	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacgattttgttttctgtcTtttccaacataaaacagctt	12	17	4	8	1	2	0	0	0	2	0	3	1	3	0	1	0	4	2	1	0	4	8			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:102442588T>C	ENST00000399004.2	-	3	259	c.165A>G	c.(163-165)aaA>aaG	p.K55K	GIN1_ENST00000508629.1_Silent_p.K55K	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	55					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GTTTTCTGTCTTTTCCAACAT	0.313													8	18					0	0	0	0	C	102442588	T	C	102442588	2	2	495	1	0	0	0	0	0	0	0	1	6437	1606	56	5		5	GIN1	5	102442588	Silent	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	859491	102442588	78472672	61	96042											
KCNN2	3781	broad.mit.edu	37	chr5	113831862	113831862	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagcaccaccaactTcatcagagagtagctagaag	14	7	7	13	0	2	2	2	0	0	2	3	3	3	2	3	0	3	3	3	0	4	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:113831862T>G	ENST00000512097.3	+	9	2741	c.1723T>G	c.(1723-1725)Tca>Gca	p.S575A	KCNN2_ENST00000503706.1_Missense_Mutation_p.S227A|KCNN2_ENST00000264773.3_Missense_Mutation_p.S575A|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	575						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACCACCAACTTCATCAGAGAG	0.468													4	84					0	0	0	0	G	113831862	T	G	113831862	3	3	495	1	0	0	0	0	1	0	0	0	8132	1783	62	5	1753	5	KCNN2	5	113831862	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	11389274	113831862	67083398	62	96043											
SNCAIP	9627	broad.mit.edu	37	chr5	121786360	121786360	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcctgtcagcctccagccgGgctagacccaaagcaaaaga	13	4	10	14	1	1	2	1	0	0	2	2	2	2	2	5	1	4	2	5	1	4	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:121786360G>T	ENST00000261367.7	+	12	3387	c.1959G>T	c.(1957-1959)cgG>cgT	p.R653R	SNCAIP_ENST00000379538.3_Silent_p.R240R|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.R653R|SNCAIP_ENST00000542191.1_Silent_p.R164R|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.R546R|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.R208R|SNCAIP_ENST00000261368.8_Silent_p.R606R|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	606					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTCCAGCCGGGCTAGACCCA	0.463													22	40					7.45023e-12	8.44131e-12	1	0	T	121786360	G	T	121786360	2	4	495	1	0	0	0	0	0	0	0	1	14929	1219	43	4		4	SNCAIP	5	121786360	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	7954498	121786360	59128900	63	96044											
TCF7	6932	broad.mit.edu	37	chr5	133451660	133451660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccgtctactccgccttcaAtctgctcatgcattacccac	8	11	5	17	2	4	0	2	0	2	0	5	1	5	0	4	0	4	2	4	0	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:133451660A>T	ENST00000395029.1	+	3	572	c.377A>T	c.(376-378)aAt>aTt	p.N126I	TCF7_ENST00000518915.1_Missense_Mutation_p.N11I|TCF7_ENST00000321584.4_Missense_Mutation_p.N126I|TCF7_ENST00000342854.5_Missense_Mutation_p.N126I|TCF7_ENST00000432532.2_Missense_Mutation_p.N11I|TCF7_ENST00000321603.6_Missense_Mutation_p.N126I|TCF7_ENST00000378564.1_Missense_Mutation_p.N126I|TCF7_ENST00000520958.1_Missense_Mutation_p.N11I|TCF7_ENST00000378560.4_Missense_Mutation_p.N11I|TCF7_ENST00000395023.1_Missense_Mutation_p.N11I			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	126					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCGCCTTCAATCTGCTCATG	0.652													13	36					0	0	0	0	T	133451660	A	T	133451660	3	4	495	1	0	0	0	0	1	0	0	0	15790	101	4	5	387	5	TCF7	5	133451660	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	11665300	133451660	47463600	64	96045											
CDC23	8697	broad.mit.edu	37	chr5	137548924	137548924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttcccgcaaatctgaGaaatcgctgtttatggacag	12	13	8	8	2	1	1	0	1	1	1	3	3	2	2	1	1	0	3	1	1	4	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:137548924G>T	ENST00000394886.2	-	1	108	c.78C>A	c.(76-78)ttC>ttA	p.F26L	CDC23_ENST00000505120.1_Missense_Mutation_p.F26L|CDC23_ENST00000394884.3_Missense_Mutation_p.F26L	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	26					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAAATCTGAGAAATCGCTGT	0.567													24	52					1.10923e-09	1.20167e-09	1	0	T	137548924	G	T	137548924	3	4	495	1	0	0	0	0	1	0	0	0	3090	933	33	2	1779	2	CDC23	5	137548924	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	4097264	137548924	43366336	65	96046											
PCDHA1	56147	broad.mit.edu	37	chr5	140167177	140167177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggacgggggctcgccttcGctgtgggccacggccagggt	3	6	19	13	5	0	0	0	0	0	0	2	1	0	1	3	6	0	2	3	6	0	1	rs144742806	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:140167177G>A	ENST00000504120.2	+	1	1302	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	PCDHA1_ENST00000394633.3_Silent_p.S434S|PCDHA1_ENST00000378133.3_Silent_p.S434S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCGCTGTGGGCCA	0.627													57	91					0	0	0	0	A	140167177	G	A	140167177	2	1	495	1	0	0	0	0	0	0	0	1	11590	1074	38	1		1	PCDHA1	5	140167177	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	2618253	140167177	40748083	66	96047											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307218	140307218	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttccagagactgcaccCaatgggactgtgttattccg	10	10	11	10	1	0	1	0	0	0	1	2	3	2	2	3	2	1	3	3	2	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:140307218C>A	ENST00000253807.2	+	1	741	c.741C>A	c.(739-741)ccC>ccA	p.P247P	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P247P|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTGCACCCAATGGGACTG	0.532													15	39					1.3612e-06	1.42465e-06	1	0	A	140307218	C	A	140307218	2	1	495	1	0	0	0	0	0	0	0	1	11603	581	21	4		4	PCDHAC1	5	140307218	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	140041	140307218	40608042	67	96048											
PCDHB16	57717	broad.mit.edu	37	chr5	140562941	140562941	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgtctccgccagggatttAgacggcggagccaatggaaa	11	6	13	11	4	1	1	0	0	1	1	2	4	1	4	4	4	1	0	4	4	3	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:140562941A>G	ENST00000361016.2	+	1	1962	c.807A>G	c.(805-807)ttA>ttG	p.L269L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		269	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGGATTTAGACGGCGGAG	0.483													4	103					0	0	0	0	G	140562941	A	G	140562941	2	3	495	1	0	0	0	0	0	0	0	1	11612	417	15	5		5	PCDHB16	5	140562941	Silent	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	255723	140562941	40352319	68	96049											
HDAC3	8841	broad.mit.edu	37	chr5	141004838	141004838	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagtcctgtcataggtcAggaggtctgcaggcacgtca	9	9	12	11	1	5	0	4	0	1	0	6	1	6	1	1	4	1	2	1	4	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:141004838A>C	ENST00000305264.3	-	14	1233	c.1154T>G	c.(1153-1155)cTg>cGg	p.L385R	AC008781.7_ENST00000422040.1_RNA|HDAC3_ENST00000469207.1_5'UTR	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	385					anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GTCATAGGTCAGGAGGTCTGC	0.517													12	167					0	0	0	0	C	141004838	A	C	141004838	3	2	495	1	0	0	0	0	1	0	0	0	7058	188	7	5	140	5	HDAC3	5	141004838	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	441897	141004838	39910422	69	96050											
DOCK2	1794	broad.mit.edu	37	chr5	169506008	169506008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattagcatcacccaagaCgccgagagtggagcaggagg	13	4	15	9	2	1	2	1	0	0	2	1	6	1	5	2	4	2	2	2	4	3	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:169506008C>T	ENST00000256935.8	+	49	5104	c.5024C>T	c.(5023-5025)aCg>aTg	p.T1675M	DOCK2_ENST00000540750.1_Missense_Mutation_p.T736M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1167M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1675					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCCAAGACGCCGAGAGTG	0.557													18	91					0	0	0	0	T	169506008	C	T	169506008	3	4	495	1	0	0	0	0	1	0	0	0	4723	536	19	1	5218	1	DOCK2	5	169506008	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	28501170	169506008	11409252	70	96051											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552036	178552036	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgcaggcccggcggcTctcgggccgggcgtcattgc	2	6	18	15	6	2	0	1	0	1	0	3	0	2	0	2	6	2	3	2	6	0	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:178552036T>A	ENST00000251582.7	-	19	2997	c.2896A>T	c.(2896-2898)Agc>Tgc	p.S966C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	966	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCCCGGCGGCTCTCGGGCCGG	0.687													41	101					0	0	0	0	A	178552036	T	A	178552036	3	1	495	1	0	0	0	0	1	0	0	0	265	1551	54	5	755	5	ADAMTS2	5	178552036	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	9046028	178552036	2363224	71	96052											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839778	27839778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcacaggttggtatcctCaaatagccccaccaggtagg	10	7	12	12	1	1	0	1	0	0	0	2	0	2	0	4	5	1	4	4	5	4	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:27839778C>T	ENST00000328488.2	-	1	321	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGTATCCTCAAATAGCCCC	0.572													45	90					0	0	0	0	T	27839778	C	T	27839778	3	4	495	1	0	0	0	0	1	0	0	0	7213	835	29	2	98	2	HIST1H3I	6	27839778	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08		27839778	143275289	72	96053											
HLA-B	3106	broad.mit.edu	37	chr6	31323247	31323247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctcagtgtcctgagtttGgtcctcgccatcccgctgcc	5	11	10	15	2	1	1	1	1	0	0	5	1	4	1	5	1	2	3	5	1	1	1	rs72558120		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:31323247G>T	ENST00000412585.2	-	4	770	c.742C>A	c.(742-744)Caa>Aaa	p.Q248K		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCCTGAGTTTGGTCCTCGCCA	0.592									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				21	80					1.01871e-10	1.11832e-10	1	0	T	31323247	G	T	31323247	3	4	495	1	0	0	0	0	1	0	0	0	7246	1357	47	4	362	4	HLA-B	6	31323247	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	3483469	31323247	139791820	73	96054											
UBR2	23304	broad.mit.edu	37	chr6	42600362	42600362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttatggatcatttgagacatCgagatgcccagggcagattt	11	12	11	7	1	1	3	1	1	0	3	2	6	1	4	1	2	1	1	1	2	1	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:42600362C>G	ENST00000372899.1	+	12	1612	c.1354C>G	c.(1354-1356)Cga>Gga	p.R452G	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.R452G	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	452					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTGAGACATCGAGATGCCCA	0.363													19	43					0	0	0	0	G	42600362	C	G	42600362	3	3	495	1	0	0	0	0	1	0	0	0	16998	876	31	3	1546	3	UBR2	6	42600362	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	11277115	42600362	128514705	74	96055											
GPR110	266977	broad.mit.edu	37	chr6	46976878	46976878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagagctttgtgagaaCtagcagcaccacaacgaagt	13	7	9	12	1	0	2	0	1	0	2	1	4	1	2	3	0	5	3	3	0	4	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:46976878C>G	ENST00000371253.2	-	11	2508	c.2293G>C	c.(2293-2295)Gtt>Ctt	p.V765L	GPR110_ENST00000283297.5_Missense_Mutation_p.V568L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	765					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTGTGAGAACTAGCAGCACC	0.542													21	36					0	0	0	0	G	46976878	C	G	46976878	3	3	495	1	0	0	0	0	1	0	0	0	6676	565	20	4	459	4	GPR110	6	46976878	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	4376516	46976878	124138189	75	96056											
GPR110	266977	broad.mit.edu	37	chr6	46982566	46982566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccaaatccaaagacaaTgtcattacactgggctggaa	15	7	9	10	0	1	1	1	0	0	1	2	3	2	3	2	3	1	1	2	3	5	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:46982566T>C	ENST00000371253.2	-	9	993	c.778A>G	c.(778-780)Att>Gtt	p.I260V	GPR110_ENST00000283297.5_Missense_Mutation_p.I63V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	260					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCAAAGACAATGTCATTACAC	0.428													14	19					0	0	0	0	C	46982566	T	C	46982566	3	2	495	1	0	0	0	0	1	0	0	0	6676	1464	51	5	1982	5	GPR110	6	46982566	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	5688	46982566	124132501	76	96057											
OGFRL1	79627	broad.mit.edu	37	chr6	72006455	72006455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattttttggaataaaactGactgataaaactggaaatgt	17	13	8	3	0	0	2	0	2	0	0	0	5	0	4	0	2	2	0	0	2	7	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:72006455G>A	ENST00000370435.4	+	6	761	c.627G>A	c.(625-627)ctG>ctA	p.L209L	RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	209						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GAATAAAACTGACTGATAAAA	0.348													30	45					0	0	0	0	A	72006455	G	A	72006455	2	1	495	1	0	0	0	0	0	0	0	1	10915	1277	45	2		2	OGFRL1	6	72006455	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	25023889	72006455	99108612	77	96058											
SLC17A5	26503	broad.mit.edu	37	chr6	74304856	74304856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtacttcacctttggCgaatagtgtaaagaaaatgg	12	14	10	5	1	1	1	1	0	0	1	1	2	1	1	1	2	1	3	1	2	7	7	rs141341430	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:74304856C>T	ENST00000355773.5	-	11	1700	c.1432G>A	c.(1432-1434)Gcc>Acc	p.A478T		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	478					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCACCTTTGGCGAATAGTGTA	0.363													29	79					0	0	0	0	T	74304856	C	T	74304856	3	4	495	1	0	0	0	0	1	0	0	0	14508	768	27	1	59	1	SLC17A5	6	74304856	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	2298401	74304856	96810211	78	96059											
CNR1	1268	broad.mit.edu	37	chr6	88854286	88854286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtccacatcaggcaaaaCgccaccacggccttgggcct	10	6	10	15	2	1	0	1	0	0	0	2	0	2	0	5	4	1	1	5	4	2	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:88854286C>T	ENST00000537554.1	-	2	4270	c.708G>A	c.(706-708)gcG>gcA	p.A236A	CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000369501.2_Silent_p.A236A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000549716.1_Silent_p.A175A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	236					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.A236A(2)		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)	TCAGGCAAAACGCCACCACGG	0.562													12	36					0	0	0	0	T	88854286	C	T	88854286	2	4	495	1	0	0	0	0	0	0	0	1	3661	523	19	1		1	CNR1	6	88854286	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	14549430	88854286	82260781	79	96060											
AKAP7	9465	broad.mit.edu	37	chr6	131540889	131540889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atatcgcatagatctttgctCcatgctgaagaaaaaacaaa	17	10	6	8	1	1	3	0	1	1	2	3	3	2	3	1	0	3	3	1	0	7	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:131540889C>T	ENST00000431975.2	+	7	889	c.791C>T	c.(790-792)tCc>tTc	p.S264F	AKAP7_ENST00000263050.3_5'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.S263F|AKAP7_ENST00000537868.1_5'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.S242F	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GATCTTTGCTCCATGCTGAAG	0.274													16	51					0	0	0	0	T	131540889	C	T	131540889	3	4	495	1	0	0	0	0	1	0	0	0	456	855	30	2	747	2	AKAP7	6	131540889	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	42686603	131540889	39574178	80	96061											
NOX3	50508	broad.mit.edu	37	chr6	155764443	155764443	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagggttgaggtagctctcGttaggggtgttgcccagctt	6	12	15	8	1	1	1	0	1	1	0	2	1	1	1	1	4	3	6	1	4	2	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:155764443G>A	ENST00000159060.2	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	150	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			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)		GGTAGCTCTCGTTAGGGGTGT	0.562													9	39					0	0	0	0	A	155764443	G	A	155764443	2	1	495	1	0	0	0	0	0	0	0	1	10627	1136	40	1		1	NOX3	6	155764443	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	24223554	155764443	15350624	81	96062											
SLC22A1	6580	broad.mit.edu	37	chr6	160557620	160557620	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaaaagctgagcccttcAtttgcagacctgttccgcac	10	9	8	14	2	1	2	1	1	0	1	2	3	2	2	4	0	3	4	4	0	2	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:160557620A>T	ENST00000366963.4	+	6	1146	c.999A>T	c.(997-999)tcA>tcT	p.S333S	SLC22A1_ENST00000457470.2_Silent_p.S333S|SLC22A1_ENST00000324965.4_Silent_p.S333S	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	333						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGAGCCCTTCATTTGCAGACC	0.582													58	73					0	0	0	0	T	160557620	A	T	160557620	2	4	495	1	0	0	0	0	0	0	0	1	14528	204	8	5		5	SLC22A1	6	160557620	Silent	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	4793177	160557620	10557447	82	96063											
SLC22A2	6582	broad.mit.edu	37	chr6	160645749	160645749	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctacctttgcatatttTcggcttcctcgatggtctca	5	16	7	13	2	1	0	1	0	1	0	5	1	2	0	3	2	3	2	3	2	2	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:160645749T>G	ENST00000366953.3	-	10	1847	c.1589A>C	c.(1588-1590)gAa>gCa	p.E530A	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	530					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TTGCATATTTTCGGCTTCCTC	0.413													84	81					0	0	0	0	G	160645749	T	G	160645749	3	3	495	1	0	0	0	0	1	0	0	0	14539	1783	62	5	86	5	SLC22A2	6	160645749	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	88129	160645749	10469318	83	96064											
CHST12	55501	broad.mit.edu	37	chr7	2473414	2473414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagctgggaggaggactgGttcgccaagatccccctggc	8	6	15	12	1	0	1	0	0	0	1	2	4	1	4	3	5	2	3	3	5	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:2473414G>T	ENST00000258711.6	+	2	1275	c.1140G>T	c.(1138-1140)tgG>tgT	p.W380C		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	380				W -> C (in Ref. 1; AAF81692).	dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		AGGAGGACTGGTTCGCCAAGA	0.642													31	16					1.16021e-09	1.2514e-09	1	0	T	2473414	G	T	2473414	3	4	495	1	0	0	0	0	1	0	0	0	3429	1270	44	4	1142	4	CHST12	7	2473414	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		2473414	156665249	84	96065											
SDK1	221935	broad.mit.edu	37	chr7	4008965	4008965	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggggtctacagatcgcGcccgtcttcatccaggatgc	6	9	13	13	4	3	1	1	0	2	1	6	2	4	2	2	4	2	0	2	4	1	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:4008965G>T	ENST00000404826.2	+	11	1762	c.1623G>T	c.(1621-1623)gcG>gcT	p.A541A	SDK1_ENST00000389531.3_Silent_p.A541A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	541	Ig-like C2-type 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACAGATCGCGCCCGTCTTCA	0.552													82	175					3.73172e-31	4.43141e-31	1	0	T	4008965	G	T	4008965	2	4	495	1	0	0	0	0	0	0	0	1	14055	1074	38	3		3	SDK1	7	4008965	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	1535551	4008965	155129698	85	96066											
CCDC129	223075	broad.mit.edu	37	chr7	31682832	31682832	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcatgttgactctgaggcCccacgagaagaggaaagcag	12	7	12	10	1	2	4	1	2	1	2	2	6	2	5	2	2	1	2	2	2	2	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:31682832C>A	ENST00000319386.3	+	11	2397	c.1404C>A	c.(1402-1404)gcC>gcA	p.A468A	CCDC129_ENST00000409210.1_Silent_p.A524A|CCDC129_ENST00000451887.2_Silent_p.A642A|CCDC129_ENST00000407970.3_Silent_p.A616A			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	616										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACTCTGAGGCCCCACGAGAAG	0.488													18	100					9.16793e-09	9.84556e-09	1	0	A	31682832	C	A	31682832	2	1	495	1	0	0	0	0	0	0	0	1	2789	610	22	4		4	CCDC129	7	31682832	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	27673867	31682832	127455831	86	96067											
KBTBD2	25948	broad.mit.edu	37	chr7	32909365	32909365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacccatctacagtgccagaGgggagtcttatgccggaatt	10	9	12	10	1	2	1	0	0	2	1	2	4	2	3	3	3	3	0	3	3	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:32909365G>A	ENST00000304056.4	-	4	2163	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	488										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			CAGTGCCAGAGGGGAGTCTTA	0.428													26	140					0	0	0	0	A	32909365	G	A	32909365	2	1	495	1	0	0	0	0	0	0	0	1	8046	987	35	4		4	KBTBD2	7	32909365	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	1226533	32909365	126229298	87	96068											
MRPS17	51373	broad.mit.edu	37	chr7	56020902	56020902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtaatgtccgtagttcGctcatccgtccatgccagat	8	11	8	14	4	1	1	1	0	0	1	5	1	4	1	5	0	1	4	5	0	2	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:56020902G>A	ENST00000285298.4	+	2	143	c.14G>A	c.(13-15)cGc>cAc	p.R5H	MRPS17_ENST00000426595.1_Missense_Mutation_p.R100H	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	5					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCGTAGTTCGCTCATCCGTC	0.448													7	252					0	0	0	0	A	56020902	G	A	56020902	3	1	495	1	0	0	0	0	1	0	0	0	9897	1087	38	1	16	1	MRPS17	7	56020902	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	23111537	56020902	103117761	88	96069											
DOCK4	9732	broad.mit.edu	37	chr7	111430632	111430632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggaaggggccaatcaGggcagggataaaatgaagct	14	7	14	6	0	2	1	1	1	1	0	2	3	2	3	1	5	1	2	1	5	6	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:111430632G>T	ENST00000428084.1	-	31	3468	c.3196C>A	c.(3196-3198)Ctg>Atg	p.L1066M	DOCK4_ENST00000437633.1_Missense_Mutation_p.L1066M			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1066					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGCCAATCAGGGCAGGGATA	0.378													8	14					0.00307968	0.00315635	1	0	T	111430632	G	T	111430632	3	4	495	1	0	0	0	0	1	0	0	0	4725	991	35	4	2792	4	DOCK4	7	111430632	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	55409730	111430632	47708031	89	96070											
NUP205	23165	broad.mit.edu	37	chr7	135291531	135291531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagaaattagttgcaattCgtcatgaaacaagaatccac	19	9	6	7	1	1	3	1	1	0	2	3	3	2	3	1	0	2	2	1	0	8	3	rs112867264		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:135291531C>T	ENST00000285968.6	+	21	2964	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	980					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTTGCAATTCGTCATGAAAC	0.333													4	109					0	0	0	0	T	135291531	C	T	135291531	3	4	495	1	0	0	0	0	1	0	0	0	10830	884	31	1	3020	1	NUP205	7	135291531	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	23860899	135291531	23847132	90	96071											
PINX1	54984	broad.mit.edu	37	chr8	10623050	10623050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcccggccctcaggcGgctgcacatggtcccctgca	6	7	12	16	2	1	1	1	1	0	0	3	1	3	1	4	4	2	3	4	4	1	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:10623050G>A	ENST00000314787.3	-	7	967	c.848C>T	c.(847-849)cCg>cTg	p.P283L	PINX1_ENST00000519088.1_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000426190.2_3'UTR	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GCCCTCAGGCGGCTGCACATG	0.572													6	27					0	0	0	0	A	10623050	G	A	10623050	3	1	495	1	0	0	0	0	1	0	0	0	12005	1116	39	1	142	1	PINX1	8	10623050	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		10623050	135740972	91	96072											
MCM4	4173	broad.mit.edu	37	chr8	48874749	48874749	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggctctgcacagaagggCctgcaagtggatctgcagtc	8	8	14	11	0	2	1	0	0	2	1	3	2	2	2	1	3	3	4	1	3	2	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:48874749C>G	ENST00000262105.2	+	3	581	c.372C>G	c.(370-372)ggC>ggG	p.G124G	MCM4_ENST00000523944.1_Silent_p.G124G	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	124					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CACAGAAGGGCCTGCAAGTGG	0.547													17	48					0	0	0	0	G	48874749	C	G	48874749	2	3	495	1	0	0	0	0	0	0	0	1	9458	726	26	4		4	MCM4	8	48874749	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	38251699	48874749	97489273	92	96073											
SULF1	23213	broad.mit.edu	37	chr8	70539521	70539521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagagcgtggaaggaccatAaggcatacattgacaaagag	16	5	12	8	1	0	3	0	1	0	2	0	5	0	5	2	3	2	1	2	3	4	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:70539521A>G	ENST00000260128.4	+	16	2644	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	SULF1_ENST00000458141.2_Missense_Mutation_p.K643E|SULF1_ENST00000419716.3_Missense_Mutation_p.K643E|SULF1_ENST00000402687.4_Missense_Mutation_p.K643E|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	643					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAAGGACCATAAGGCATACAT	0.463													15	29					0	0	0	0	G	70539521	A	G	70539521	3	3	495	1	0	0	0	0	1	0	0	0	15460	363	13	5	1973	5	SULF1	8	70539521	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	21664772	70539521	75824501	93	96074											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885472	88885472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatctccccagagcgaCagccattaaacagcaaagga	17	4	8	12	1	1	2	0	0	1	2	2	4	1	3	3	1	4	1	3	1	4	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:88885472C>T	ENST00000319675.3	-	1	824	c.728G>A	c.(727-729)tGt>tAt	p.C243Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	243										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCCAGAGCGACAGCCATTAAA	0.522													84	97					0	0	0	0	T	88885472	C	T	88885472	3	4	495	1	0	0	0	0	1	0	0	0	4305	478	17	4	463	4	DCAF4L2	8	88885472	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	18345951	88885472	57478550	94	96075											
CSMD3	114788	broad.mit.edu	37	chr8	113293461	113293461	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtgcactgtctaactgaAggtccagaaaggatgtatcc	11	10	11	9	0	1	2	0	1	1	1	3	3	3	3	2	2	2	3	2	2	4	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:113293461A>G	ENST00000297405.5	-	59	9694	c.9450T>C	c.(9448-9450)ccT>ccC	p.P3150P	CSMD3_ENST00000343508.3_Silent_p.P3110P|CSMD3_ENST00000352409.3_Silent_p.P3080P|CSMD3_ENST00000455883.2_Silent_p.P2981P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3150	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCTAACTGAAGGTCCAGAAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	132					0	0	0	0	G	113293461	A	G	113293461	2	3	495	1	0	0	0	0	0	0	0	1	3978	59	3	5		5	CSMD3	8	113293461	Silent	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	24407989	113293461	33070561	95	96076											
CSMD3	114788	broad.mit.edu	37	chr8	113529452	113529452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacacgcagtggcaacagAacctatcaaaagacagagac	18	3	9	11	2	1	3	1	0	0	3	1	5	1	3	1	1	2	2	1	1	5	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:113529452A>G	ENST00000297405.5	-	28	4811	c.4567T>C	c.(4567-4569)Tct>Cct	p.S1523P	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1483P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1523P|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1419P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1523	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGGCAACAGAACCTATCAAA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	68					0	0	0	0	G	113529452	A	G	113529452	3	3	495	1	0	0	0	0	1	0	0	0	3978	246	9	5	6732	5	CSMD3	8	113529452	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	235991	113529452	32834570	96	96077											
COL22A1	169044	broad.mit.edu	37	chr8	139768066	139768066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggccccgcaggtcccaCgtcaccctgcacagaaacga	10	4	11	16	3	1	1	1	0	0	1	2	2	2	1	4	3	2	2	4	3	1	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:139768066C>T	ENST00000303045.6	-	19	2355	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	COL22A1_ENST00000435777.1_Missense_Mutation_p.V637M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	637	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCAGGTCCCACGTCACCCTGC	0.572										HNSCC(7;0.00092)			13	105					0	0	0	0	T	139768066	C	T	139768066	3	4	495	1	0	0	0	0	1	0	0	0	3711	536	19	1	3159	1	COL22A1	8	139768066	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	26238614	139768066	6595956	97	96078											
CER1	9350	broad.mit.edu	37	chr9	14720106	14720106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcaagctgaaactcctggGataaaggaatcctgggagcc	12	8	11	10	0	1	1	1	1	0	0	3	4	3	4	3	3	3	1	3	3	5	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:14720106G>A	ENST00000380911.3	-	2	830	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	262					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AAACTCCTGGGATAAAGGAAT	0.463													41	22					0	0	0	0	A	14720106	G	A	14720106	2	1	495	1	0	0	0	0	0	0	0	1	3294	1164	41	2		2	CER1	9	14720106	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		14720106	126493325	98	96079											
SMC2	10592	broad.mit.edu	37	chr9	106876290	106876290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgcaggcagctgtctcGtgatattggtagattgaaag	12	10	13	6	2	1	3	0	2	1	1	2	3	1	3	0	2	2	4	0	2	4	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:106876290G>A	ENST00000286398.7	+	12	1748	c.1460G>A	c.(1459-1461)cGt>cAt	p.R487H	SMC2_ENST00000374787.3_Missense_Mutation_p.R487H|SMC2_ENST00000374793.3_Missense_Mutation_p.R487H|SMC2_ENST00000303219.8_Missense_Mutation_p.R487H	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	487					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CAGCTGTCTCGTGATATTGGT	0.343													56	249					0	0	0	0	A	106876290	G	A	106876290	3	1	495	1	0	0	0	0	1	0	0	0	14871	1145	40	1	1502	1	SMC2	9	106876290	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	92156184	106876290	34337141	99	96080											
OR13C2	392376	broad.mit.edu	37	chr9	107367299	107367299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgtcaatatgaacaatgTtgtggccacaagcatgatga	14	10	11	6	0	1	3	1	3	0	0	1	3	1	3	1	2	2	2	1	2	5	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:107367299T>C	ENST00000542196.1	-	1	652	c.610A>G	c.(610-612)Aca>Gca	p.T204A		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATGAACAATGTTGTGGCCACA	0.398													5	202					0	0	0	0	C	107367299	T	C	107367299	3	2	495	1	0	0	0	0	1	0	0	0	11005	1725	60	5	349	5	OR13C2	9	107367299	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	491009	107367299	33846132	100	96081											
LHX6	26468	broad.mit.edu	37	chr9	124991011	124991011	+	Frame_Shift_Del	DEL	C	C	-																															ggggcggcgttctcatgcttCcagtacatgggccggggaac																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:124991011delC	ENST00000394319.4	-	1	113	c.9delG	c.(7-9)tgfs	p.W3fs	LHX6_ENST00000340587.3_Frame_Shift_Del_p.W3fs|LHX6_ENST00000559529.1_5'UTR	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	0					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						TCTCATGCTTCCAGTACATGG	0.751													2	4	---	---	---	---					-	124991011	C	-	124991011	7	5	495	1	0	1	0	1	0	0	0	0	8829	856	30	0	1268	0	LHX6	9	124991011	Frame_Shift_Del	DEL	C	TCGA-UF-A71E-01A-31D-A34J-08	17623712	124991011	16222420	101	96082											
GFI1B	8328	broad.mit.edu	37	chr9	135865147	135865147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcgcagcttcgagtgcCgcatgtgcggcaaggccttc	7	7	15	12	4	0	0	0	0	0	0	2	2	0	1	2	3	4	4	2	3	1	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:135865147C>T	ENST00000339463.3	+	10	1486	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	GFI1B_ENST00000372122.1_Missense_Mutation_p.R223C|GFI1B_ENST00000372123.1_Missense_Mutation_p.R177C|GFI1B_ENST00000450530.1_Missense_Mutation_p.R223C|GFI1B_ENST00000372124.1_Missense_Mutation_p.R177C|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	223	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.R223F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CTTCGAGTGCCGCATGTGCGG	0.682													5	39					0	0	0	0	T	135865147	C	T	135865147	3	4	495	1	0	0	0	0	1	0	0	0	6391	652	23	1	685	1	GFI1B	9	135865147	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	10874136	135865147	5348284	102	96083											
C10orf68	79741	broad.mit.edu	37	chr10	33137563	33137563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatatgtccgtacaacGtcaagaaggtatctttacta	15	11	7	8	2	2	2	1	0	1	2	3	2	3	2	1	1	3	2	1	1	9	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:33137563G>A	ENST00000375030.2	+	20	2036	c.1418G>A	c.(1417-1419)cGt>cAt	p.R473H	C10orf68_ENST00000375025.4_Missense_Mutation_p.R578H|C10orf68_ENST00000375028.3_Missense_Mutation_p.R518H			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	514										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCCGTACAACGTCAAGAAGGT	0.294													97	132					0	0	0	0	A	33137563	G	A	33137563	3	1	495	1	0	0	0	0	1	0	0	0	1623	1145	40	1	1607	1	C10orf68	10	33137563	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		33137563	102397184	103	96084											
CREM	1390	broad.mit.edu	37	chr10	35477202	35477202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagggactgcaggcattaAcaatgacaaattcaggagct	14	9	10	8	0	2	1	2	1	0	0	2	3	2	3	0	3	3	3	0	3	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:35477202A>G	ENST00000333809.8	+	6	685	c.631A>G	c.(631-633)Aca>Gca	p.T211A	CREM_ENST00000463960.1_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000463314.1_5'UTR|CREM_ENST00000354759.3_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000429130.3_Missense_Mutation_p.T195A|CREM_ENST00000395887.3_Missense_Mutation_p.T132A|CREM_ENST00000395895.2_Missense_Mutation_p.T211A|CREM_ENST00000374721.3_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000361599.4_Missense_Mutation_p.T132A|CREM_ENST00000345491.3_Missense_Mutation_p.T162A|CREM_ENST00000342105.3_Missense_Mutation_p.T107A|CREM_ENST00000337656.4_Missense_Mutation_p.T162A|CREM_ENST00000479070.1_Missense_Mutation_p.T162A|CREM_ENST00000474362.1_Intron	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	211					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GCAGGCATTAACAATGACAAA	0.453													25	81					0	0	0	0	G	35477202	A	G	35477202	3	3	495	1	0	0	0	0	1	0	0	0	3898	43	2	5	644	5	CREM	10	35477202	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	2339639	35477202	100057545	104	96085											
CCDC6	8030	broad.mit.edu	37	chr10	61665982	61665982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcaccttgttctcttgCtgcagcgaggccaggcggtt	5	12	12	12	2	2	0	1	0	1	0	3	1	2	0	2	3	4	5	2	3	0	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:61665982C>A	ENST00000263102.6	-	1	432	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	67						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGTTCTCTTGCTGCAGCGAGG	0.647			T	RET	NSCLC								40	96					1.02687e-29	1.21357e-29	1	0	A	61665982	C	A	61665982	3	1	495	1	0	0	0	0	1	0	0	0	2857	796	28	4	1259	4	CCDC6	10	61665982	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	26188780	61665982	73868765	105	96086											
HERC4	26091	broad.mit.edu	37	chr10	69684939	69684939	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatattcccctttgtattcTgtattctaaaaacaacataa	15	15	2	9	0	2	0	0	0	2	0	3	0	3	0	2	0	2	2	2	0	9	9			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:69684939T>C	ENST00000395198.3	-	25	3115	c.2868A>G	c.(2866-2868)acA>acG	p.T956T	HERC4_ENST00000373700.4_Silent_p.T948T|HERC4_ENST00000412272.2_Silent_p.T878T|HERC4_ENST00000277817.6_Silent_p.T846T|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	956	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CTTTGTATTCTGTATTCTAAA	0.328													22	48					0	0	0	0	C	69684939	T	C	69684939	2	2	495	1	0	0	0	0	0	0	0	1	7110	1567	55	5		5	HERC4	10	69684939	Silent	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	8018957	69684939	65849808	106	96087											
PIK3AP1	118788	broad.mit.edu	37	chr10	98469373	98469373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtaggtctctggctcatcGtcacaggtgagctcctgcca	7	10	11	13	2	3	1	2	1	1	0	6	1	4	1	2	3	2	3	2	3	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:98469373G>A	ENST00000339364.5	-	2	500	c.381C>T	c.(379-381)gaC>gaT	p.D127D		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	127						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTGGCTCATCGTCACAGGTGA	0.537													36	91					0	0	0	0	A	98469373	G	A	98469373	2	1	495	1	0	0	0	0	0	0	0	1	11980	1136	40	1		1	PIK3AP1	10	98469373	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	28784434	98469373	37065374	107	96088											
ADRB1	153	broad.mit.edu	37	chr10	115804440	115804440	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctcgtgtgcaccgtgtgGgccatctcggccctggtgtc	2	10	15	14	3	1	0	0	0	1	0	4	0	1	0	4	4	1	1	4	4	0	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:115804440G>A	ENST00000369295.2	+	1	635	c.549G>A	c.(547-549)tgG>tgA	p.W183*		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	183					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCACCGTGTGGGCCATCTCGG	0.701													25	23					0	0	0	0	A	115804440	G	A	115804440	4	1	495	1	0	0	0	0	0	1	0	0	340	1241	43	4	551	4	ADRB1	10	115804440	Nonsense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	17335067	115804440	19730307	108	96089											
DPYSL4	10570	broad.mit.edu	37	chr10	134006320	134006320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagggcaccaaggcagCgctagcaggaggaaccacca	12	3	13	13	1	1	0	1	0	0	0	1	2	1	2	3	4	3	4	3	4	3	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:134006320C>T	ENST00000338492.4	+	3	451	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DPYSL4_ENST00000368629.1_Missense_Mutation_p.A19V|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A19V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	96					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCAAGGCAGCGCTAGCAGGA	0.617													11	80					0	0	0	0	T	134006320	C	T	134006320	3	4	495	1	0	0	0	0	1	0	0	0	4785	768	27	1	297	1	DPYSL4	10	134006320	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	18201880	134006320	1528427	109	96090											
MUC2	4583	broad.mit.edu	37	chr11	1075769	1075769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgactacaacttcgcctcCgactgccgaggctcctacaa	9	8	8	16	4	0	0	0	0	0	0	3	3	2	0	4	1	5	1	4	1	4	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:1075769C>T	ENST00000441003.2	+	2	222	c.195C>T	c.(193-195)tcC>tcT	p.S65S	MUC2_ENST00000359061.5_Silent_p.S65S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	65	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACTTCGCCTCCGACTGCCGAG	0.642													13	17					0	0	0	0	T	1075769	C	T	1075769	2	4	495	1	0	0	0	0	0	0	0	1	10045	639	23	1		1	MUC2	11	1075769	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08		1075769	133930747	110	96091											
TOLLIP	54472	broad.mit.edu	37	chr11	1298422	1298422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctacagcggggctgggcGttcacggcggccgggggcag	4	5	20	12	6	1	0	1	0	0	0	2	0	1	0	1	7	2	4	1	7	1	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:1298422G>A	ENST00000527886.1	-	6	845	c.465C>T	c.(463-465)aaC>aaT	p.N155N	TOLLIP_ENST00000525159.1_Silent_p.N163N|TOLLIP_ENST00000542915.1_Silent_p.N174N|TOLLIP_ENST00000263646.7_Silent_p.N196N|TOLLIP_ENST00000527938.1_3'UTR|TOLLIP_ENST00000317204.6_Silent_p.N224N			Q9H0E2	TOLIP_HUMAN	toll interacting protein	224					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGGGCTGGGCGTTCACGGCGG	0.632													23	47					0	0	0	0	A	1298422	G	A	1298422	2	1	495	1	0	0	0	0	0	0	0	1	16444	1136	40	1		1	TOLLIP	11	1298422	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	222653	1298422	133708094	111	96092											
OR6Q1	219952	broad.mit.edu	37	chr11	57799050	57799050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttcctggtgtctctggCtgtgctactggcctcctcta	3	15	11	12	0	2	0	0	0	2	0	5	1	4	1	3	4	2	2	3	4	2	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:57799050C>A	ENST00000302622.3	+	1	649	c.626C>A	c.(625-627)gCt>gAt	p.A209D	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GTGTCTCTGGCTGTGCTACTG	0.537													25	60					4.72057e-08	4.98283e-08	1	0	A	57799050	C	A	57799050	3	1	495	1	0	0	0	0	1	0	0	0	11279	797	28	4	628	4	OR6Q1	11	57799050	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	56500628	57799050	77207466	112	96093											
OR10V1	390201	broad.mit.edu	37	chr11	59480656	59480656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtaaaatggctaccacgatGaagacataggagatggagat	16	7	12	6	2	0	4	0	1	0	3	0	7	0	4	1	3	1	2	1	3	5	3	rs146924217	by1000genomes	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:59480656G>A	ENST00000307552.2	-	1	681	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CTACCACGATGAAGACATAGG	0.512													23	42					0	0	0	0	A	59480656	G	A	59480656	2	1	495	1	0	0	0	0	0	0	0	1	10991	1281	45	2		2	OR10V1	11	59480656	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	1681606	59480656	75525860	113	96094											
AHNAK	79026	broad.mit.edu	37	chr11	62259277	62259277	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttgttctggtctttgcaTtccagtgctgatggctgtgg	3	18	13	7	0	2	1	0	1	2	0	3	1	3	1	1	3	2	5	1	3	0	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:62259277T>C	ENST00000257247.7	-	5	604	c.369A>G	c.(367-369)gaA>gaG	p.E123E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR	NM_024060.2	NP_076965.2	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	0					nervous system development	nucleus	protein binding			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)				GGTCTTTGCATTCCAGTGCTG	0.468													7	14					0	0	0	0	C	62259277	T	C	62259277	2	2	495	1	0	0	0	0	0	0	0	1	414	1490	52	5		5	AHNAK	11	62259277	Silent	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	2778621	62259277	72747239	114	96095											
FLRT1	23769	broad.mit.edu	37	chr11	63884783	63884783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgaaggcacgggcggcCgtggtcaacgtgcggggcct	5	6	20	10	5	1	1	1	1	0	0	1	1	1	1	2	7	2	1	2	7	2	0	rs140908634		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:63884783C>T	ENST00000246841.3	+	2	2087	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	320	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CACGGGCGGCCGTGGTCAACG	0.627													11	39					0	0	0	0	T	63884783	C	T	63884783	2	4	495	1	0	0	0	0	0	0	0	1	5983	639	23	1		1	FLRT1	11	63884783	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	1625506	63884783	71121733	115	96096											
TRPT1	83707	broad.mit.edu	37	chr11	63992034	63992034	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgatgataccggggtcTccaggcagtcctggggccag	7	7	14	13	1	1	2	0	2	1	0	3	2	2	2	5	5	1	1	5	5	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:63992034T>C	ENST00000394546.2	-	5	702	c.489A>G	c.(487-489)ggA>ggG	p.G163G	TRPT1_ENST00000546133.1_Silent_p.G35G|TRPT1_ENST00000546089.1_Silent_p.G112G|TRPT1_ENST00000541278.1_Silent_p.G161G|TRPT1_ENST00000394547.3_Silent_p.G112G|TRPT1_ENST00000317459.6_Silent_p.G161G	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	161							tRNA 2'-phosphotransferase activity			lung(2)|skin(1)	3						TACCGGGGTCTCCAGGCAGTC	0.577													17	23					0	0	0	0	C	63992034	T	C	63992034	2	2	495	1	0	0	0	0	0	0	0	1	16689	1538	54	5		5	TRPT1	11	63992034	Silent	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	107251	63992034	71014482	116	96097											
ESRRA	2101	broad.mit.edu	37	chr11	64082285	64082285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctatgccatgcctgaccCcgcaggccctgatgggcacc	6	7	11	17	1	1	2	0	2	1	0	1	2	1	2	6	2	2	3	6	2	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:64082285C>T	ENST00000405666.1	+	5	878	c.644C>T	c.(643-645)cCc>cTc	p.P215L	ESRRA_ENST00000000442.6_Missense_Mutation_p.P215L|ESRRA_ENST00000406310.1_Missense_Mutation_p.P214L			P11474	ERR1_HUMAN	estrogen-related receptor alpha	215	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATGCCTGACCCCGCAGGCCCT	0.582													20	44					0	0	0	0	T	64082285	C	T	64082285	3	4	495	1	0	0	0	0	1	0	0	0	5298	623	22	4	658	4	ESRRA	11	64082285	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	90251	64082285	70924231	117	96098											
TCIRG1	10312	broad.mit.edu	37	chr11	67815027	67815027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgaccggctgtgaaggcCgcgcagaacgaggtgagggg	10	3	18	10	5	0	3	0	2	0	1	0	5	0	3	3	5	2	2	3	5	3	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:67815027C>T	ENST00000265686.3	+	11	1401	c.1293C>T	c.(1291-1293)gcC>gcT	p.A431A	TCIRG1_ENST00000532635.1_Silent_p.A215A	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	431					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CTGTGAAGGCCGCGCAGAACG	0.652													19	37					0	0	0	0	T	67815027	C	T	67815027	2	4	495	1	0	0	0	0	0	0	0	1	15797	639	23	1		1	TCIRG1	11	67815027	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	3732742	67815027	67191489	118	96099											
PDE2A	5138	broad.mit.edu	37	chr11	72290045	72290045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctgcttgttgtttcggtCgtagcccactgttgagggga	4	14	15	8	2	0	1	0	1	0	0	2	2	0	2	1	3	3	6	1	3	1	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:72290045C>T	ENST00000334456.5	-	28	2610	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N	PDE2A_ENST00000418754.2_Missense_Mutation_p.D674N|PDE2A_ENST00000540345.1_Missense_Mutation_p.D780N|PDE2A_ENST00000444035.2_Missense_Mutation_p.D780N|PDE2A_ENST00000376450.3_Missense_Mutation_p.D533N|PDE2A_ENST00000544570.1_Missense_Mutation_p.D782N	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	789	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTGTTTCGGTCGTAGCCCACT	0.597													9	18					0	0	0	0	T	72290045	C	T	72290045	3	4	495	1	0	0	0	0	1	0	0	0	11707	884	31	1	476	1	PDE2A	11	72290045	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	4475018	72290045	62716471	119	96100											
NPAT	4863	broad.mit.edu	37	chr11	108044179	108044179	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccaagtgaaacaaatGaagttattggtatatcaggc	17	9	8	7	0	1	2	1	2	0	0	1	2	1	2	1	2	2	2	1	2	8	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:108044179G>T	ENST00000278612.8	-	13	1637	c.1532C>A	c.(1531-1533)tCa>tAa	p.S511*		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	511					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAAACAAATGAAGTTATTGG	0.368													28	56					1.12875e-08	1.20693e-08	1	0	T	108044179	G	T	108044179	4	4	495	1	0	0	0	0	0	1	0	0	10636	1294	45	2	2775	2	NPAT	11	108044179	Nonsense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	35754134	108044179	26962337	120	96101											
OR6X1	390260	broad.mit.edu	37	chr11	123625035	123625035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagatttctaagaaagaCaagttacaaaggaagaagta	20	8	8	5	0	1	4	0	0	1	4	1	5	1	5	1	1	2	2	1	1	9	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:123625035C>G	ENST00000327930.2	-	1	218	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTAAGAAAGACAAGTTACAAA	0.463													18	42					0	0	0	0	G	123625035	C	G	123625035	3	3	495	1	0	0	0	0	1	0	0	0	11283	477	17	4	748	4	OR6X1	11	123625035	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	15580856	123625035	11381481	121	96102											
RARG	5916	broad.mit.edu	37	chr12	53621287	53621287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggtagccagatccaggccCcagggcaccagccgcaaaga	11	3	13	14	1	0	2	0	0	0	2	1	2	1	2	6	3	2	3	6	3	2	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:53621287C>A	ENST00000425354.2	-	3	530	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	RARG_ENST00000394426.1_Missense_Mutation_p.G15W|RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	15	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GATCCAGGCCCCAGGGCACCA	0.667													7	18					0.27861	0.27861	1	0	A	53621287	C	A	53621287	3	1	495	1	0	0	0	0	1	0	0	0	13136	623	22	4	1508	4	RARG	12	53621287	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08		53621287	80230608	122	96103											
ORMDL2	29095	broad.mit.edu	37	chr12	56212928	56212928	+	Frame_Shift_Del	DEL	T	T	-																															tcttcagcattcctgttgtcTggaccctgaccaacgtcatc																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:56212928delT	ENST00000243045.5	+	2	340	c.145delT	c.(145-147)ggfs	p.W49fs	RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000548974.1_Frame_Shift_Del_p.W49fs|RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000552672.1_Frame_Shift_Del_p.W15fs|ORMDL2_ENST00000550836.1_Intron	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)	49					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						TCCTGTTGTCTGGACCCTGAC	0.488													47	62	---	---	---	---					-	56212928	T	-	56212928	7	5	495	1	0	1	0	1	0	0	0	0	11341	1580	55	0	147	0	ORMDL2	12	56212928	Frame_Shift_Del	DEL	T	TCGA-UF-A71E-01A-31D-A34J-08	2591641	56212928	77638967	123	96104											
PPP1R12A	4659	broad.mit.edu	37	chr12	80203722	80203722	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctttctaagtcctaacctCcaagttgcaggagactcatc	10	12	7	12	0	3	1	1	0	2	1	6	2	5	1	3	1	2	2	3	1	3	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:80203722C>G	ENST00000450142.2	-	10	1574	c.1308G>C	c.(1306-1308)tgG>tgC	p.W436C	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.W436C|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.W436C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.W349C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.W436C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	436						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTCCTAACCTCCAAGTTGCAG	0.388													18	20					0	0	0	0	G	80203722	C	G	80203722	3	3	495	1	0	0	0	0	1	0	0	0	12430	856	30	2	1848	2	PPP1R12A	12	80203722	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	23990794	80203722	53648173	124	96105											
PPFIA2	8499	broad.mit.edu	37	chr12	81746959	81746959	+	Missense_Mutation	SNP	C	C	T																															catggctagcgtctgggcatCggaatgaccacttggagaga																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:81746959C>T	ENST00000550584.2	-	16	2228	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	PPFIA2_ENST00000541570.2_Missense_Mutation_p.D212N|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D627N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D571N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D546N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D627N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D492N	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	571										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTCTGGGCATCGGAATGACCA	0.388													24	71					0	0	0	0	T	81746959	C	T	81746959	3	4	495	1	0	0	0	0	1	0	0	0	12381	884	31	1	1904	1	PPFIA2	12	81746959	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	1543237	81746959	52104936	125	96106	1144	2									
PPFIA2	8499	broad.mit.edu	37	chr12	81746960	81746960	+	Silent	SNP	G	G	C																															atggctagcgtctgggcatcGgaatgaccacttggagagag																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:81746960G>C	ENST00000550584.2	-	16	2227	c.1932C>G	c.(1930-1932)tcC>tcG	p.S644S	PPFIA2_ENST00000541570.2_Silent_p.S211S|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Silent_p.S644S|PPFIA2_ENST00000333447.7_Silent_p.S626S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Silent_p.S644S|PPFIA2_ENST00000407050.4_Silent_p.S570S|PPFIA2_ENST00000549396.1_Silent_p.S644S|PPFIA2_ENST00000443686.3_Silent_p.S545S|PPFIA2_ENST00000549325.1_Silent_p.S626S|PPFIA2_ENST00000550359.2_Silent_p.S491S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	570										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTGGGCATCGGAATGACCAC	0.393													24	71					0	0	0	0	C	81746960	G	C	81746960	2	2	495	1	0	0	0	0	0	0	0	1	12381	1103	39	3		3	PPFIA2	12	81746960	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	1	81746960	52104935	126	96107	1144	2									
ANKS1B	56899	broad.mit.edu	37	chr12	99640465	99640465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagactgcttgaaaggcaaaGgactgtttgccaaactgact	13	9	11	8	0	0	3	0	2	0	1	0	5	0	4	1	2	3	3	1	2	3	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:99640465G>T	ENST00000547776.2	-	13	1933	c.1934C>A	c.(1933-1935)cCt>cAt	p.P645H	ANKS1B_ENST00000547010.1_Missense_Mutation_p.P225H|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P645H	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	645						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAAAGGCAAAGGACTGTTTGC	0.383													21	51					6.33239e-15	7.27488e-15	1	0	T	99640465	G	T	99640465	3	4	495	1	0	0	0	0	1	0	0	0	688	1000	35	4	2156	4	ANKS1B	12	99640465	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	17893505	99640465	34211430	127	96108											
TRAFD1	10906	broad.mit.edu	37	chr12	112578678	112578678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcactgtgatttagaactttCcattctcaaactgaaggaac	13	12	7	9	0	1	3	1	2	1	1	3	4	2	4	1	1	3	1	1	1	5	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:112578678C>T	ENST00000257604.5	+	5	910	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TRAFD1_ENST00000412615.2_Missense_Mutation_p.S98F	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	98					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTAGAACTTTCCATTCTCAAA	0.458													32	120					0	0	0	0	T	112578678	C	T	112578678	3	4	495	1	0	0	0	0	1	0	0	0	16542	855	30	2	307	2	TRAFD1	12	112578678	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	12938213	112578678	21273217	128	96109											
TMEM132B	114795	broad.mit.edu	37	chr12	126138782	126138782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgatcaactgcgtggcGtttgcctggaaatacagaca	10	12	10	9	2	2	2	1	1	1	1	2	3	2	3	1	2	4	1	1	2	3	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:126138782G>A	ENST00000299308.3	+	9	2771	c.2763G>A	c.(2761-2763)gcG>gcA	p.A921A	TMEM132B_ENST00000535886.1_Silent_p.A433A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	921						integral to membrane		p.A921A(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACTGCGTGGCGTTTGCCTGGA	0.522													31	111					0	0	0	0	A	126138782	G	A	126138782	2	1	495	1	0	0	0	0	0	0	0	1	16140	1132	40	1		1	TMEM132B	12	126138782	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	13560104	126138782	7713113	129	96110											
PPP2R3C	55012	broad.mit.edu	37	chr14	35577278	35577278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacatagaagaaatacttatAaaagcacagaccaaaaacct	22	6	4	9	0	0	3	0	0	0	3	0	3	0	3	2	0	3	1	2	0	9	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr14:35577278A>G	ENST00000555644.1	-	5	922	c.569T>C	c.(568-570)tTa>tCa	p.L190S	PPP2R3C_ENST00000261475.5_Intron			Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	0						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AAATACTTATAAAAGCACAGA	0.308													74	28					0	0	0	0	G	35577278	A	G	35577278	3	3	495	1	0	0	0	0	1	0	0	0	12466	377	13	5		5	PPP2R3C	14	35577278	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08		35577278	71772262	130	96111											
PNN	5411	broad.mit.edu	37	chr14	39648653	39648653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactaatagaagagtcacaGagaaaaatgaacggtaagta	22	6	9	4	1	1	4	1	1	0	3	1	5	1	4	0	1	2	2	0	1	9	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr14:39648653G>A	ENST00000216832.4	+	8	847	c.780G>A	c.(778-780)caG>caA	p.Q260Q	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	260	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAGAGTCACAGAGAAAAATGA	0.323													15	36					0	0	0	0	A	39648653	G	A	39648653	2	1	495	1	0	0	0	0	0	0	0	1	12232	933	33	2		2	PNN	14	39648653	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	4071375	39648653	67700887	131	96112											
CLMN	79789	broad.mit.edu	37	chr14	95669937	95669937	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctcatgaggtgaaggAactttgttgaaagcctggct	9	14	12	6	0	1	3	1	3	1	0	2	4	1	4	1	3	2	2	1	3	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr14:95669937A>G	ENST00000298912.4	-	9	1862	c.1749T>C	c.(1747-1749)gtT>gtC	p.V583V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	583						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAGGTGAAGGAACTTTGTTGA	0.398													45	100					0	0	0	0	G	95669937	A	G	95669937	2	3	495	1	0	0	0	0	0	0	0	1	3572	233	9	5		5	CLMN	14	95669937	Silent	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	56021284	95669937	11679603	132	96113											
DYNC1H1	1778	broad.mit.edu	37	chr14	102502959	102502959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagagtgcactgagattcGgtaacccccttctggtccag	9	10	11	11	1	1	2	0	1	1	2	3	4	2	2	3	2	2	2	3	2	2	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr14:102502959G>A	ENST00000360184.4	+	57	11052	c.10888G>A	c.(10888-10890)Ggt>Agt	p.G3630S	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3630	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTGAGATTCGGTAACCCCCT	0.438													40	88					0	0	0	0	A	102502959	G	A	102502959	3	1	495	1	0	0	0	0	1	0	0	0	4877	1116	39	1	11114	1	DYNC1H1	14	102502959	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	6833022	102502959	4846581	133	96114											
HERC2	8924	broad.mit.edu	37	chr15	28421842	28421842	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccactcaccttcatcggTcagagccagggtctgcgcgt	7	8	11	15	3	4	1	3	0	1	1	5	1	4	1	3	2	3	0	3	2	0	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:28421842T>A	ENST00000261609.7	-	62	9613	c.9505A>T	c.(9505-9507)Acc>Tcc	p.T3169S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3169					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTTCATCGGTCAGAGCCAGG	0.463													52	191					0	0	0	0	A	28421842	T	A	28421842	3	1	495	1	0	0	0	0	1	0	0	0	7108	1667	58	5	5127	5	HERC2	15	28421842	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08		28421842	74109550	134	96115											
DUOXA1	90527	broad.mit.edu	37	chr15	45411394	45411394	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggaatgtcctgggacttGggactgtcagccatggaccg	8	8	16	9	1	1	0	1	0	0	0	2	4	2	4	3	5	1	0	3	5	1	1	rs150452217		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:45411394G>T	ENST00000558996.1	-	6	861	c.807C>A	c.(805-807)ccC>ccA	p.P269P	DUOXA1_ENST00000559014.1_Silent_p.P314P|DUOXA1_ENST00000558422.1_Silent_p.P269P|DUOXA1_ENST00000267803.4_Silent_p.P314P|DUOXA1_ENST00000430224.2_Silent_p.P269P|DUOXA1_ENST00000560572.1_Silent_p.P314P	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	314					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CCTGGGACTTGGGACTGTCAG	0.552													25	86					4.72057e-08	4.98283e-08	1	0	T	45411394	G	T	45411394	2	4	495	1	0	0	0	0	0	0	0	1	4838	1335	47	4		4	DUOXA1	15	45411394	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	16989552	45411394	57119998	135	96116											
SLC12A1	6557	broad.mit.edu	37	chr15	48566800	48566800	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgagattggcgtggttaTagtcagaatcagccaaggat	11	13	12	5	1	2	2	2	1	0	2	2	4	2	3	1	3	1	1	1	3	4	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:48566800T>G	ENST00000396577.3	+	20	2650	c.2435T>G	c.(2434-2436)aTa>aGa	p.I812R	SLC12A1_ENST00000380993.3_Missense_Mutation_p.I812R|SLC12A1_ENST00000558405.1_Missense_Mutation_p.I812R	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	812					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGCGTGGTTATAGTCAGAATC	0.383													11	34					0	0	0	0	G	48566800	T	G	48566800	3	3	495	1	0	0	0	0	1	0	0	0	14470	1406	49	5	2609	5	SLC12A1	15	48566800	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	3155406	48566800	53964592	136	96117											
FBN1	2200	broad.mit.edu	37	chr15	48707938	48707938	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggctcctccgcagaTgtgagcgctgaggcattcgt	8	8	14	11	3	0	3	0	2	0	1	3	4	2	4	2	3	1	4	2	3	0	1	rs143677764		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:48707938T>A	ENST00000316623.5	-	64	8301	c.7846A>T	c.(7846-7848)Atc>Ttc	p.I2616F	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2616	EGF-like 46; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTCCGCAGATGTGAGCGCTG	0.532													30	87					0	0	0	0	A	48707938	T	A	48707938	3	1	495	1	0	0	0	0	1	0	0	0	5747	1464	51	5	781	5	FBN1	15	48707938	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	141138	48707938	53823454	137	96118											
WDR72	256764	broad.mit.edu	37	chr15	54025296	54025296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgatggcagtgatgctgtgGggaggggccttctgtcccca	6	10	16	9	0	1	2	0	2	1	0	2	3	2	3	3	5	1	2	3	5	0	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:54025296G>A	ENST00000396328.1	-	2	290	c.51C>T	c.(49-51)ccC>ccT	p.P17P	WDR72_ENST00000360509.5_Silent_p.P17P|WDR72_ENST00000557913.1_Silent_p.P17P|WDR72_ENST00000559418.1_Silent_p.P17P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	17										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGATGCTGTGGGGAGGGGCCT	0.512													20	91					0	0	0	0	A	54025296	G	A	54025296	2	1	495	1	0	0	0	0	0	0	0	1	17418	1219	43	4		4	WDR72	15	54025296	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	5317358	54025296	48506096	138	96119											
RFX7	64864	broad.mit.edu	37	chr15	56387143	56387143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgggtgctggaagtgTgagatgacattggagctcct	10	10	16	5	0	0	3	0	2	0	2	1	6	1	5	1	3	2	2	1	3	2	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:56387143T>C	ENST00000423270.1	-	9	2782	c.2783A>G	c.(2782-2784)cAc>cGc	p.H928R	RFX7_ENST00000422057.1_Missense_Mutation_p.H831R|RFX7_ENST00000559447.2_Missense_Mutation_p.H831R|RFX7_ENST00000317318.6_Missense_Mutation_p.H928R	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	831					regulation of transcription, DNA-dependent	nucleus	DNA binding	p.H928L(1)|p.H831L(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						GCTGGAAGTGTGAGATGACAT	0.502													3	31					0	0	0	0	C	56387143	T	C	56387143	3	2	495	1	0	0	0	0	1	0	0	0	13350	1696	59	5	1603	5	RFX7	15	56387143	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	2361847	56387143	46144249	139	96120											
HEXA	3073	broad.mit.edu	37	chr15	72647899	72647899	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taatcagccccaatttgttaCctcggagagctccccagaca	11	9	7	14	1	1	2	1	0	0	2	3	3	2	2	5	1	3	2	5	1	3	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:72647899C>A	ENST00000268097.5	-	3	916		c.e3+1		RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Splice_Site|HEXA_ENST00000429918.2_Splice_Site|HEXA_ENST00000567159.1_Splice_Site|HEXA_ENST00000457859.2_Splice_Site	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAATTTGTTACCTCGGAGAGC	0.473													35	45					5.8336e-16	6.73318e-16	1	0	A	72647899	C	A	72647899	5	1	495	1	0	0	0	0	0	0	1	0	7123	521	18	4	1224	4	HEXA	15	72647899	Splice_Site	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	16260756	72647899	29883493	140	96121											
PEX11A	8800	broad.mit.edu	37	chr15	90229714	90229714	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgagcttcattaccacCttctctttgccagctttggg	5	17	7	12	0	3	1	1	1	2	0	4	1	3	1	3	1	4	2	3	1	1	7			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:90229714C>T	ENST00000300056.3	-	2	269	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PEX11A_ENST00000561224.1_Silent_p.K40K|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Silent_p.K40K|PEX11A_ENST00000559170.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	40					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCATTACCACCTTCTCTTTGC	0.408													15	132					0	0	0	0	T	90229714	C	T	90229714	2	4	495	1	0	0	0	0	0	0	0	1	11809	680	24	4		4	PEX11A	15	90229714	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	17581815	90229714	12301678	141	96122											
ZNF747	65988	broad.mit.edu	37	chr16	30544131	30544131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccacgatggatggcccGgtgtttgctcagggaggaag	7	8	15	11	2	1	0	1	0	0	0	2	4	2	3	3	5	1	2	3	5	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:30544131G>A	ENST00000535210.1	-	3	854	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	ZNF747_ENST00000568028.1_Missense_Mutation_p.R228W|ZNF747_ENST00000569360.1_Missense_Mutation_p.R228W|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR			Q9BV97	ZN747_HUMAN	zinc finger protein 747	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						TGGATGGCCCGGTGTTTGCTC	0.662													8	9					0	0	0	0	A	30544131	G	A	30544131	3	1	495	1	0	0	0	0	1	0	0	0	18224	1131	39	1		1	ZNF747	16	30544131	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		30544131	59810622	142	96123											
FBXL19	54620	broad.mit.edu	37	chr16	30939204	30939204	+	Frame_Shift_Del	DEL	C	C	-																															agggccccctgcctgccgggCcccccccggaggacgtgcct																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:30939204delC	ENST00000338343.4	+	5	934	c.547delC	c.(547-549)ccfs	p.P185fs	FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000380310.2_Frame_Shift_Del_p.P205fs|FBXL19_ENST00000562319.1_Frame_Shift_Del_p.P185fs			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	205							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCCTGCCGGGCCCCCCCCGGA	0.711													2	4	---	---	---	---					-	30939204	C	-	30939204	7	5	495	1	0	1	0	1	0	0	0	0	5760	739	26	0	625	0	FBXL19	16	30939204	Frame_Shift_Del	DEL	C	TCGA-UF-A71E-01A-31D-A34J-08	395073	30939204	59415549	143	96124											
FAM192A	80011	broad.mit.edu	37	chr16	57188276	57188276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggcattgatggtgccttCgctgtctgagctggactcgg	4	12	16	9	2	1	2	0	2	1	0	3	3	1	3	1	5	2	3	1	5	0	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:57188276C>T	ENST00000309137.8	-	7	949	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	FAM192A_ENST00000567439.1_Missense_Mutation_p.E231K|FAM192A_ENST00000564108.1_Missense_Mutation_p.E231K|FAM192A_ENST00000389447.5_Missense_Mutation_p.E231K|FAM192A_ENST00000569266.1_Missense_Mutation_p.E231K|FAM192A_ENST00000566077.1_Missense_Mutation_p.E154K	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	231						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ATGGTGCCTTCGCTGTCTGAG	0.602													15	32					0	0	0	0	T	57188276	C	T	57188276	3	4	495	1	0	0	0	0	1	0	0	0	5566	893	31	1	77	1	FAM192A	16	57188276	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	26249072	57188276	33166477	144	96125											
FAM65A	79567	broad.mit.edu	37	chr16	67574393	67574393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccaggctgtgtgtaggcGatcagtatgaggtatgagaa	10	10	15	6	2	1	2	1	2	0	1	2	4	1	2	1	3	0	4	1	3	4	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:67574393G>A	ENST00000540839.3	+	10	944	c.724G>A	c.(724-726)Gat>Aat	p.D242N	FAM65A_ENST00000379312.3_Missense_Mutation_p.D226N|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000428437.2_Missense_Mutation_p.D236N|FAM65A_ENST00000042381.4_Missense_Mutation_p.D222N|FAM65A_ENST00000422602.2_Missense_Mutation_p.D242N			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	226						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTGTGTAGGCGATCAGTATGA	0.572													19	44					0	0	0	0	A	67574393	G	A	67574393	3	1	495	1	0	0	0	0	1	0	0	0	5645	1058	37	1	694	1	FAM65A	16	67574393	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	10386117	67574393	22780360	145	96126											
ZNF276	92822	broad.mit.edu	37	chr16	89804494	89804494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaccagtgtggccggcGgtttgagaaggcccacaacc	8	7	14	12	2	0	2	0	2	0	1	0	3	0	2	4	4	1	1	4	4	2	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:89804494G>A	ENST00000289816.5	+	11	1772	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	ZNF276_ENST00000446326.2_Missense_Mutation_p.R348Q|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.R562Q|ZNF276_ENST00000568064.1_3'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTGGCCGGCGGTTTGAGAAG	0.597													18	22					0	0	0	0	A	89804494	G	A	89804494	3	1	495	1	0	0	0	0	1	0	0	0	17906	1116	39	1	1727	1	ZNF276	16	89804494	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	22230101	89804494	550259	146	96127											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			48	23					3.21987e-24	3.76923e-24	1	0	A	7579312	C	A	7579312	5	1	495	1	0	0	0	0	0	0	1	0	16476	666	23	3	927	3	TP53	17	7579312	Splice_Site	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08		7579312	73615898	147	96128											
MYH3	4621	broad.mit.edu	37	chr17	10543023	10543023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctcctcctcatcttcagCtctctctgtcacctccttga	5	15	4	17	0	7	1	3	1	4	0	11	2	9	1	4	0	1	1	4	0	0	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:10543023C>T	ENST00000583535.1	-	23	2866	c.2779G>A	c.(2779-2781)Gct>Act	p.A927T	MYH3_ENST00000226209.7_Missense_Mutation_p.A927T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	927					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCATCTTCAGCTCTCTCTGTC	0.468													68	196					0	0	0	0	T	10543023	C	T	10543023	3	4	495	1	0	0	0	0	1	0	0	0	10106	797	28	4	3119	4	MYH3	17	10543023	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	2963711	10543023	70652187	148	96129											
EPN2	22905	broad.mit.edu	37	chr17	19232091	19232091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccgtacaatctgtcccCaagaactcggacccctgggc	9	6	9	17	2	1	1	0	0	1	1	3	2	2	2	6	2	2	1	6	2	4	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:19232091C>T	ENST00000314728.5	+	8	1699	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	EPN2_ENST00000395620.2_Silent_p.P348P|EPN2_ENST00000395618.3_Silent_p.P120P|EPN2_ENST00000575595.1_Silent_p.P113P|EPN2_ENST00000395626.1_Silent_p.P405P|EPN2_ENST00000347697.2_Silent_p.P348P|EPN2_ENST00000571254.1_Silent_p.P341P	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	405	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AATCTGTCCCCAAGAACTCGG	0.622													49	33					0	0	0	0	T	19232091	C	T	19232091	2	4	495	1	0	0	0	0	0	0	0	1	5224	581	21	4		4	EPN2	17	19232091	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	8689068	19232091	61963119	149	96130											
ACACA	31	broad.mit.edu	37	chr17	35614747	35614747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaacattcttattgctgcgGaaatttagctcctgaactgt	11	14	7	9	1	1	1	0	1	1	0	2	2	2	2	1	1	5	2	1	1	5	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:35614747G>A	ENST00000353139.5	-	14	2185	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	ACACA_ENST00000394406.2_Silent_p.F531F|ACACA_ENST00000360679.3_Silent_p.F473F|ACACA_ENST00000335166.5_Silent_p.F453F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	531	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TATTGCTGCGGAAATTTAGCT	0.413													21	90					0	0	0	0	A	35614747	G	A	35614747	2	1	495	1	0	0	0	0	0	0	0	1	106	1165	41	2		2	ACACA	17	35614747	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	16382656	35614747	45580463	150	96131											
KRTAP4-1	85285	broad.mit.edu	37	chr17	39341000	39341000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatacaacacagctggggCagcaacaggtggtctggcag	11	6	15	9	0	1	0	0	0	1	0	1	1	1	1	0	6	5	4	0	6	3	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:39341000C>A	ENST00000398472.1	-	1	594	c.107G>T	c.(106-108)tGc>tTc	p.C36F				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	36	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCTGGGGCAGCAACAGGT	0.617													15	46					6.72482e-11	7.41532e-11	1	0	A	39341000	C	A	39341000	3	1	495	1	0	0	0	0	1	0	0	0	8601	710	25	4	284	4	KRTAP4-1	17	39341000	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	3726253	39341000	41854210	151	96132											
HSD17B1	3292	broad.mit.edu	37	chr17	40705615	40705615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggacgcgtgttggtgaccGggagcgtgggaggattgatg	6	8	21	6	5	0	2	0	2	0	0	0	6	0	6	1	5	1	1	1	5	0	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:40705615G>T	ENST00000585807.1	+	3	4144	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.G142W|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	142					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GTTGGTGACCGGGAGCGTGGG	0.627													5	105					0.014758	0.0148785	1	0	T	40705615	G	T	40705615	3	4	495	1	0	0	0	0	1	0	0	0	7428	1116	39	3	434	3	HSD17B1	17	40705615	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	1364615	40705615	40489595	152	96133											
AOC2	314	broad.mit.edu	37	chr17	41001261	41001261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccccctaccccgctacCtctacctggctagcaaccag	9	6	7	19	1	1	0	0	0	1	0	1	1	1	0	7	1	6	3	7	1	6	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:41001261C>T	ENST00000253799.3	+	2	1774	c.1747C>T	c.(1747-1749)Ctc>Ttc	p.L583F	AOC2_ENST00000452774.2_Missense_Mutation_p.L583F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	583					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACCCCGCTACCTCTACCTGGC	0.607													23	98					0	0	0	0	T	41001261	C	T	41001261	3	4	495	1	0	0	0	0	1	0	0	0	728	681	24	4	1753	4	AOC2	17	41001261	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	295646	41001261	40193949	153	96134											
VAT1	10493	broad.mit.edu	37	chr17	41174333	41174333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcggctacctctctctcgtCggacatggctgggactcccg	4	10	11	16	4	2	0	0	0	2	0	7	2	3	2	2	4	1	2	2	4	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:41174333C>G	ENST00000355653.3	-	1	102	c.7G>C	c.(7-9)Gac>Cac	p.D3H	VAT1_ENST00000587173.1_Missense_Mutation_p.D3H	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	3						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCTCTCTCGTCGGACATGGCT	0.692													34	10					0	0	0	0	G	41174333	C	G	41174333	3	3	495	1	0	0	0	0	1	0	0	0	17225	884	31	3	1198	3	VAT1	17	41174333	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	173072	41174333	40020877	154	96135											
TK1	7083	broad.mit.edu	37	chr17	76170975	76170975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggcctgaggccttcttGaagtagcagagccgacacac	9	7	13	12	1	1	3	0	2	1	1	1	4	1	3	3	3	2	3	3	3	2	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:76170975G>A	ENST00000588734.1	-	6	907	c.669C>T	c.(667-669)ttC>ttT	p.F223F	TK1_ENST00000405273.1_Silent_p.F190F|TK1_ENST00000590862.1_Intron|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000301634.7_Silent_p.F190F			P04183	KITH_HUMAN	thymidine kinase 1, soluble	190					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			AGGCCTTCTTGAAGTAGCAGA	0.632													19	13					0	0	0	0	A	76170975	G	A	76170975	2	1	495	1	0	0	0	0	0	0	0	1	16026	1281	45	2		2	TK1	17	76170975	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	34996642	76170975	5024235	155	96136											
IMPACT	55364	broad.mit.edu	37	chr18	22017938	22017938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagaatatcggtgaaagtAttctttacctgtgggtggag	10	13	13	5	1	2	2	1	1	1	1	3	3	2	3	1	3	1	1	1	3	5	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr18:22017938A>G	ENST00000284202.4	+	5	442	c.301A>G	c.(301-303)Att>Gtt	p.I101V	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	101	RWD.									endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CGGTGAAAGTATTCTTTACCT	0.299													46	47					0	0	0	0	G	22017938	A	G	22017938	3	3	495	1	0	0	0	0	1	0	0	0	7777	449	16	5	319	5	IMPACT	18	22017938	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08		22017938	56059310	156	96137											
ZNF521	25925	broad.mit.edu	37	chr18	22807583	22807583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgcaaccttctccatggCtaggggaagtctgatccttg	9	11	10	11	1	2	1	0	1	2	0	5	2	3	2	3	3	1	2	3	3	4	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr18:22807583C>T	ENST00000361524.3	-	4	447	c.299G>A	c.(298-300)aGc>aAc	p.S100N	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.S100N|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	100					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTCCATGGCTAGGGGAAGT	0.507			T	PAX5	ALL								19	55					0	0	0	0	T	22807583	C	T	22807583	3	4	495	1	0	0	0	0	1	0	0	0	18060	797	28	4	3656	4	ZNF521	18	22807583	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	789645	22807583	55269665	157	96138											
ATP5A1	498	broad.mit.edu	37	chr18	43664472	43664472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacaattgcattcatacctGatagtgcccaacaaggcttg	13	10	7	11	0	1	1	1	1	0	0	1	1	1	1	2	1	5	2	2	1	6	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr18:43664472G>C	ENST00000593152.2	-	11	1967	c.1428C>G	c.(1426-1428)atC>atG	p.I476M	ATP5A1_ENST00000398752.6_Missense_Mutation_p.I526M|ATP5A1_ENST00000282050.2_Missense_Mutation_p.I526M|ATP5A1_ENST00000590665.1_Missense_Mutation_p.I504M	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	526					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATTCATACCTGATAGTGCCCA	0.358													14	51					0	0	0	0	C	43664472	G	C	43664472	3	2	495	1	0	0	0	0	1	0	0	0	1151	1280	45	2	91	2	ATP5A1	18	43664472	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	20856889	43664472	34412776	158	96139											
MEX3D	399664	broad.mit.edu	37	chr19	1556840	1556840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcctccttccggccggtCacgatgaagaccggctcctc	6	8	10	17	5	1	2	1	1	0	1	6	3	5	2	6	3	0	1	6	3	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:1556840C>T	ENST00000402693.4	-	2	677	c.678G>A	c.(676-678)gtG>gtA	p.V226V	MEX3D_ENST00000388824.6_Silent_p.V226V	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	226	KH 1.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGCCGGTCACGATGAAGA	0.662													20	61					0	0	0	0	T	1556840	C	T	1556840	2	4	495	1	0	0	0	0	0	0	0	1	9581	813	29	2		2	MEX3D	19	1556840	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08		1556840	57572143	159	96140											
LRRC8E	80131	broad.mit.edu	37	chr19	7963763	7963763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatgccaagtacttccCttacctcgtggtcattcaca	8	13	7	13	1	2	0	2	0	0	0	4	0	3	0	3	2	3	2	3	2	4	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:7963763C>T	ENST00000306708.6	+	3	457	c.356C>T	c.(355-357)cCt>cTt	p.P119L	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	119						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AAGTACTTCCCTTACCTCGTG	0.473													38	152					0	0	0	0	T	7963763	C	T	7963763	3	4	495	1	0	0	0	0	1	0	0	0	9089	681	24	4	362	4	LRRC8E	19	7963763	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	6406923	7963763	51165220	160	96141											
KEAP1	9817	broad.mit.edu	37	chr19	10602745	10602745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatctgcaggaagttcGgcgtcaacgagtggcagcgc	8	7	15	11	4	2	0	1	0	1	0	3	2	2	1	0	3	4	5	0	3	2	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:10602745G>A	ENST00000171111.5	-	3	1380	c.833C>T	c.(832-834)cCg>cTg	p.P278L	KEAP1_ENST00000393623.2_Missense_Mutation_p.P278L|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	278	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CAGGAAGTTCGGCGTCAACGA	0.612													46	35					0	0	0	0	A	10602745	G	A	10602745	3	1	495	1	0	0	0	0	1	0	0	0	8193	1116	39	1	1057	1	KEAP1	19	10602745	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	2638982	10602745	48526238	161	96142											
TMEM161A	54929	broad.mit.edu	37	chr19	19232402	19232402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggccagccgcaggcctggGaaggtgaggaaggcacccag	9	3	18	11	1	0	1	0	1	0	0	0	3	0	3	4	6	1	2	4	6	2	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:19232402G>A	ENST00000450333.2	-	6	460	c.423C>T	c.(421-423)ttC>ttT	p.F141F	TMEM161A_ENST00000587583.2_Silent_p.F219F|TMEM161A_ENST00000162044.9_Silent_p.F244F	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	244					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCAGGCCTGGGAAGGTGAGGA	0.652													19	33					0	0	0	0	A	19232402	G	A	19232402	2	1	495	1	0	0	0	0	0	0	0	1	16170	1165	41	2		2	TMEM161A	19	19232402	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	8629657	19232402	39896581	162	96143											
ZNF430	80264	broad.mit.edu	37	chr19	21240550	21240550	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcacataaggtaattcAttctggagagaaaccctaca	15	10	7	9	0	2	1	1	0	1	1	2	3	2	2	1	2	4	2	1	2	5	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:21240550A>T	ENST00000261560.5	+	5	1617	c.1436A>T	c.(1435-1437)cAt>cTt	p.H479L		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGGTAATTCATTCTGGAGAG	0.368													28	76					0	0	0	0	T	21240550	A	T	21240550	3	4	495	1	0	0	0	0	1	0	0	0	17999	217	8	5	1454	5	ZNF430	19	21240550	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	2008148	21240550	37888433	163	96144											
ZNF493	284443	broad.mit.edu	37	chr19	21607770	21607770	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggaattcatactgaagAgactgtacaaaagtgaagaa	18	10	9	4	0	1	4	1	2	0	2	1	6	1	5	0	1	2	1	0	1	9	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:21607770A>G	ENST00000392288.2	+	4	2418	c.2309A>G	c.(2308-2310)gAg>gGg	p.E770G	ZNF493_ENST00000355504.4_Missense_Mutation_p.E642G|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CATACTGAAGAGACTGTACAA	0.388													11	89					0	0	0	0	G	21607770	A	G	21607770	3	3	495	1	0	0	0	0	1	0	0	0	18039	304	11	5	2386	5	ZNF493	19	21607770	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	367220	21607770	37521213	164	96145											
ZNF676	163223	broad.mit.edu	37	chr19	22363783	22363783	+	Missense_Mutation	SNP	T	T	C																															gggtttctctccagtatgaaTtatcttatgtttagtaagga																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:22363783T>C	ENST00000397121.2	-	3	1053	c.736A>G	c.(736-738)Att>Gtt	p.I246V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCAGTATGAATTATCTTATGT	0.358													9	226					0	0	0	0	C	22363783	T	C	22363783	3	2	495	1	0	0	0	0	1	0	0	0	18178	1493	52	5	1034	5	ZNF676	19	22363783	Missense_Mutation	SNP	T	TCGA-UF-A71E-01A-31D-A34J-08	756013	22363783	36765200	165	96146	1145	2									
ZNF676	163223	broad.mit.edu	37	chr19	22363785	22363785	+	Missense_Mutation	SNP	A	A	C																															gtttctctccagtatgaattAtcttatgtttagtaaggatt																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:22363785A>C	ENST00000397121.2	-	3	1051	c.734T>G	c.(733-735)aTa>aGa	p.I245R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTATCTTATGTTT	0.363													8	234					0	0	0	0	C	22363785	A	C	22363785	3	2	495	1	0	0	0	0	1	0	0	0	18178	449	16	5	1036	5	ZNF676	19	22363785	Missense_Mutation	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08	2	22363785	36765198	166	96147	1145	2									
ANKRD27	84079	broad.mit.edu	37	chr19	33113490	33113490	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatgtcaagtctgcaCgactccacgtcgtagtaaac	11	10	8	12	3	2	0	1	0	1	0	4	1	3	0	2	0	3	3	2	0	5	3	rs138473952		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:33113490C>T	ENST00000306065.4	-	18	1823	c.1665G>A	c.(1663-1665)tcG>tcA	p.S555S		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	555					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAAGTCTGCACGACTCCACGT	0.537													70	61					0	0	0	0	T	33113490	C	T	33113490	2	4	495	1	0	0	0	0	0	0	0	1	655	523	19	1		1	ANKRD27	19	33113490	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	10749705	33113490	26015493	167	96148											
KLC3	147700	broad.mit.edu	37	chr19	45851393	45851394	+	Frame_Shift_Ins	INS	-	-	T																															ccctgacgtggccaccatgcINStcaacatcctggcgctggtg																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:45851393_45851394insT	ENST00000470402.1	+	4	896_897	c.796_797insT	c.(796-798)caafs	p.Q266fs	KLC3_ENST00000585434.1_Frame_Shift_Ins_p.Q251fs|KLC3_ENST00000391946.2_Frame_Shift_Ins_p.Q252fs			Q6P597	KLC3_HUMAN	kinesin light chain 3	252						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCACCATGCTCAACATCCTG	0.683													11	10	---	---	---	---					T	45851394	-	T	45851393	7	5	495	1	0	1	1	0	0	0	0	0	8387	797	28	0	768	0	KLC3	19	45851393	Frame_Shift_Ins	INS	-	TCGA-UF-A71E-01A-31D-A34J-08	12737903	45851393	13277590	168	96149											
SULT2B1	6820	broad.mit.edu	37	chr19	49094970	49094970	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcacacccgaccagttcctGagggacttcctcaaaggcga	10	6	11	14	2	1	1	1	1	0	0	3	4	3	2	4	3	0	2	4	3	1	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:49094970G>C	ENST00000323090.4	+	3	858	c.483G>C	c.(481-483)ctG>ctC	p.L161L	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Silent_p.L176L	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	176					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		ACCAGTTCCTGAGGGACTTCC	0.632													3	17					0	0	0	0	C	49094970	G	C	49094970	2	2	495	1	0	0	0	0	0	0	0	1	15472	1277	45	2		2	SULT2B1	19	49094970	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	3243577	49094970	10034013	169	96150											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628328	51628328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagttccgtgacggtgcagGaaggcctgtgtgtccatgtg	7	10	16	8	2	0	2	0	1	0	1	2	3	2	3	3	3	1	2	3	3	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:51628328G>A	ENST00000440804.3	+	1	164	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.E33K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	33	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GACGGTGCAGGAAGGCCTGTG	0.607													26	40					0	0	0	0	A	51628328	G	A	51628328	3	1	495	1	0	0	0	0	1	0	0	0	14403	1175	41	2	99	2	SIGLEC9	19	51628328	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	2533358	51628328	7500655	170	96151											
EPN1	29924	broad.mit.edu	37	chr19	56206141	56206141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcccgaagccctggggcGtttgacatgagtggggtcag	6	7	17	11	3	1	2	1	2	0	0	1	3	1	2	3	5	1	1	3	5	1	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:56206141G>A	ENST00000411543.2	+	10	2119	c.1572G>A	c.(1570-1572)gcG>gcA	p.A524A	EPN1_ENST00000270460.6_Silent_p.A438A|EPN1_ENST00000085079.7_Silent_p.A412A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	438	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GCCCTGGGGCGTTTGACATGA	0.687													7	28					0	0	0	0	A	56206141	G	A	56206141	2	1	495	1	0	0	0	0	0	0	0	1	5223	1132	40	1		1	EPN1	19	56206141	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	4577813	56206141	2922842	171	96152											
PEG3	5178	broad.mit.edu	37	chr19	57326923	57326923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagagcatccctcgagggcGaaatgtttgttcaccaaaag	13	9	10	9	2	1	1	1	0	0	1	3	3	2	1	2	1	1	3	2	1	4	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:57326923G>T	ENST00000326441.9	-	10	3250	c.2887C>A	c.(2887-2889)Cgc>Agc	p.R963S	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R963S|PEG3_ENST00000598410.1_Missense_Mutation_p.R839S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R837S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	963					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R963C(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)		CCTCGAGGGCGAAATGTTTGT	0.473													36	122					4.92203e-23	5.73462e-23	1	0	T	57326923	G	T	57326923	3	4	495	1	0	0	0	0	1	0	0	0	11791	1058	37	3	1883	3	PEG3	19	57326923	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	1120782	57326923	1802060	172	96153											
ADRA1D	146	broad.mit.edu	37	chr20	4229232	4229232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacggtctgcaggtggcGgttgcaggccactgagagga	7	7	19	8	2	1	2	0	2	1	1	1	4	1	3	1	7	2	3	1	7	0	1			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr20:4229232G>A	ENST00000379453.4	-	1	489	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	125					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TGCAGGTGGCGGTTGCAGGCC	0.637													14	32					0	0	0	0	A	4229232	G	A	4229232	3	1	495	1	0	0	0	0	1	0	0	0	336	1116	39	1	1353	1	ADRA1D	20	4229232	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		4229232	58796288	173	96154											
BAGE2	85319	broad.mit.edu	37	chr21	11049448	11049448	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaattgaaatgaaaacttActtgcagttctggcacactt	13	14	7	7	0	1	3	0	3	1	0	1	3	1	3	0	1	3	3	0	1	5	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr21:11049448A>T	ENST00000470054.1	-	0	659									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)		ATGAAAACTTACTTGCAGTTC	0.403													9	322					0	0	0	0	T	11049448	A	T	11049448	1	4	495	0	1	0	0	0	0	0	0	0	1296	405	14	5		5	BAGE2	21	11049448	RNA	SNP	A	TCGA-UF-A71E-01A-31D-A34J-08		11049448	37080447	174	96155											
RBM11	54033	broad.mit.edu	37	chr21	15599512	15599512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcagatgaataaacgaaaGagacaaaagcaaacaagtga	23	5	8	5	1	1	4	1	2	0	2	1	6	1	4	0	0	3	1	0	0	9	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr21:15599512G>C	ENST00000400577.3	+	5	753	c.744G>C	c.(742-744)aaG>aaC	p.K248N	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	248							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATAAACGAAAGAGACAAAAGC	0.403													48	203					0	0	0	0	C	15599512	G	C	15599512	3	2	495	1	0	0	0	0	1	0	0	0	13194	933	33	2	762	2	RBM11	21	15599512	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	4550064	15599512	32530383	175	96156											
TSSK2	23617	broad.mit.edu	37	chr22	19119690	19119690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcccgacgtcagccagCggctccacatcgatgagatc	9	6	11	15	4	1	1	1	1	0	1	4	4	2	1	3	1	4	2	3	1	0	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:19119690C>T	ENST00000399635.2	+	1	1370	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	260	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGTCAGCCAGCGGCTCCACAT	0.617													29	70					0	0	0	0	T	19119690	C	T	19119690	3	4	495	1	0	0	0	0	1	0	0	0	16764	759	27	1	780	1	TSSK2	22	19119690	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08		19119690	32184876	176	96157											
AIFM3	150209	broad.mit.edu	37	chr22	21334349	21334349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggccagcatgaactacgatCccattgtgtccaaggtcgct	9	10	10	12	2	0	1	0	1	0	0	3	2	2	1	3	2	3	2	3	2	3	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:21334349C>A	ENST00000399167.2	+	19	1933	c.1693C>A	c.(1693-1695)Ccc>Acc	p.P565T	AIFM3_ENST00000440238.2_Missense_Mutation_p.P565T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.P565T|AIFM3_ENST00000405089.1_Missense_Mutation_p.P571T|LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.P565T|AIFM3_ENST00000335375.5_Missense_Mutation_p.P553T	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GAACTACGATCCCATTGTGTC	0.622													11	41					3.07112e-06	3.2007e-06	1	0	A	21334349	C	A	21334349	3	1	495	1	0	0	0	0	1	0	0	0	428	855	30	2	1781	2	AIFM3	22	21334349	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	2214659	21334349	29970217	177	96158											
CCDC116	164592	broad.mit.edu	37	chr22	21989429	21989429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctaaacccaccaatggCgggcagccctatgcttcccc	9	6	8	18	1	0	0	0	0	0	0	1	0	1	0	6	2	4	3	6	2	4	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:21989429C>T	ENST00000292779.3	+	4	1238	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	359										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACCAATGGCGGGCAGCCCT	0.652													18	31					0	0	0	0	T	21989429	C	T	21989429	2	4	495	1	0	0	0	0	0	0	0	1	2778	755	27	1		1	CCDC116	22	21989429	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	655080	21989429	29315137	178	96159											
SRRD	402055	broad.mit.edu	37	chr22	26886031	26886031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggaaacggagtattcgcGgggagcctaccatcttttac	11	9	12	9	3	1	0	0	0	1	0	2	3	1	3	2	4	4	1	2	4	5	5			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:26886031G>A	ENST00000215917.6	+	5	645	c.631G>A	c.(631-633)Ggg>Agg	p.G211R		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	211					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAGTATTCGCGGGGAGCCTAC	0.473													29	74					0	0	0	0	A	26886031	G	A	26886031	3	1	495	1	0	0	0	0	1	0	0	0	15257	1116	39	1	649	1	SRRD	22	26886031	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	4896602	26886031	24418535	179	96160											
CYTH4	27128	broad.mit.edu	37	chr22	37693680	37693680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggttcctgtataaaggcGagggcctcaacaagacagcc	12	6	11	12	2	1	1	1	0	0	1	2	2	2	1	3	3	2	2	3	3	5	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:37693680G>A	ENST00000248901.6	+	5	497	c.310G>A	c.(310-312)Gag>Aag	p.E104K	CYTH4_ENST00000405206.3_Missense_Mutation_p.E104K|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Missense_Mutation_p.E104K	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	104	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GTATAAAGGCGAGGGCCTCAA	0.547													35	104					0	0	0	0	A	37693680	G	A	37693680	3	1	495	1	0	0	0	0	1	0	0	0	4238	1059	37	1	328	1	CYTH4	22	37693680	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	10807649	37693680	13610886	180	96161											
DMD	1756	broad.mit.edu	37	chrX	32328384	32328384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatcatcgtttcttcacGgacagtgtgctggtatagat	9	13	9	10	2	3	1	2	0	1	1	4	2	3	2	1	2	1	3	1	2	2	4			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:32328384G>A	ENST00000357033.4	-	42	6138	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMD_ENST00000378677.2_Missense_Mutation_p.R1974C	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	1978					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			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)				GTTTCTTCACGGACAGTGTGC	0.378													12	17					0	0	0	0	A	32328384	G	A	32328384	3	1	495	1	0	0	0	0	1	0	0	0	4617	1116	39	1	5425	1	DMD	23	32328384	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08		32328384	122942176	181	96162											
SHROOM4	57477	broad.mit.edu	37	chrX	50350964	50350964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccaagctgatgtgactctCtgagaaggcacggctgcgca	9	7	13	12	3	1	3	0	3	1	1	2	4	1	3	1	2	2	4	1	2	2	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:50350964C>T	ENST00000376020.2	-	6	3203	c.3178G>A	c.(3178-3180)Gag>Aag	p.E1060K	SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1060K|SHROOM4_ENST00000460112.3_Missense_Mutation_p.E944K	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1060					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATGTGACTCTCTGAGAAGGCA	0.562													18	6					0	0	0	0	T	50350964	C	T	50350964	3	4	495	1	0	0	0	0	1	0	0	0	14384	922	32	2	1319	2	SHROOM4	23	50350964	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	18022580	50350964	104919596	182	96163											
OTUD6A	139562	broad.mit.edu	37	chrX	69283070	69283070	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacgtcctgaagaccccCatcgaggtgatccaggccga	9	6	11	15	4	0	3	0	2	0	1	4	5	2	3	5	2	0	1	5	2	1	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:69283070C>A	ENST00000338352.2	+	1	730	c.696C>A	c.(694-696)ccC>ccA	p.P232P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	232	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TGAAGACCCCCATCGAGGTGA	0.612													22	9					1.50039e-11	1.69222e-11	1	0	A	69283070	C	A	69283070	2	1	495	1	0	0	0	0	0	0	0	1	11387	581	21	4		4	OTUD6A	23	69283070	Silent	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	18932106	69283070	85987490	183	96164											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	53	---	---	---	---					-	72433666	TCC	-	72433664	7	5	495	1	0	1	0	1	0	0	0	0	10227	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-UF-A71E-01A-31D-A34J-08	3150594	72433664	82836896	184	96165											
KLHL4	56062	broad.mit.edu	37	chrX	86887360	86887360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtttaaaaactttgaataCagtggaatgttttaatccag	14	14	8	5	1	0	1	0	1	0	0	1	2	1	2	1	2	2	2	1	2	7	6			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:86887360C>G	ENST00000373119.4	+	7	1620	c.1475C>G	c.(1474-1476)aCa>aGa	p.T492R	KLHL4_ENST00000373114.4_Missense_Mutation_p.T492R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	492						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACTTTGAATACAGTGGAATGT	0.418													35	14					0	0	0	0	G	86887360	C	G	86887360	3	3	495	1	0	0	0	0	1	0	0	0	8443	478	17	4	1501	4	KLHL4	23	86887360	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	14453696	86887360	68383200	185	96166											
PCDH11X	27328	broad.mit.edu	37	chrX	91132770	91132770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctaggccctgatgctccaCctgaattcagcctggattgt	7	12	10	12	0	1	2	1	2	0	0	2	3	2	3	4	2	3	2	4	2	2	3			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:91132770C>A	ENST00000373094.1	+	2	2376	c.1531C>A	c.(1531-1533)Cct>Act	p.P511T	PCDH11X_ENST00000395337.2_Missense_Mutation_p.P511T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P511T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P511T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	511	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATGCTCCACCTGAATTCAG	0.428													14	35					4.36969e-10	4.75469e-10	1	0	A	91132770	C	A	91132770	3	1	495	1	0	0	0	0	1	0	0	0	11579	507	18	4	1537	4	PCDH11X	23	91132770	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	4245410	91132770	64137790	186	96167											
SLC6A14	11254	broad.mit.edu	37	chrX	115574951	115574951	+	Frame_Shift_Del	DEL	T	T	-																															ggcagcttcccagtgaacaaTattggaagtaagtatactag																										TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:115574951delT	ENST00000371900.4	+	5	737	c.649delT	c.(649-651)atfs	p.Y217fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	217					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CAGTGAACAATATTGGAAGTA	0.338													23	47	---	---	---	---					-	115574951	T	-	115574951	7	5	495	1	0	1	0	1	0	0	0	0	14765	1406	49	0	667	0	SLC6A14	23	115574951	Frame_Shift_Del	DEL	T	TCGA-UF-A71E-01A-31D-A34J-08	24442181	115574951	39695609	187	96168											
GLUD2	2747	broad.mit.edu	37	chrX	120181725	120181725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggccgaccgcgaggacGaccccaacttcttcaagatg	9	7	12	13	4	2	1	1	0	1	1	2	5	2	2	4	3	1	0	4	3	2	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:120181725G>A	ENST00000328078.1	+	1	264	c.187G>A	c.(187-189)Gac>Aac	p.D63N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	63					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCGCGAGGACGACCCCAACTT	0.692													61	18					0	0	0	0	A	120181725	G	A	120181725	3	1	495	1	0	0	0	0	1	0	0	0	6528	1058	37	1	189	1	GLUD2	23	120181725	Missense_Mutation	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	4606774	120181725	35088835	188	96169											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686182	125686182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctggcctcactgtccCgcaagaggggaatgcgcgcg	7	5	14	15	4	1	1	1	0	0	1	2	2	2	2	4	3	2	1	4	3	2	0			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:125686182C>T	ENST00000371126.1	-	1	652	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	137										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTCACTGTCCCGCAAGAGGGG	0.632													20	37					0	0	0	0	T	125686182	C	T	125686182	3	4	495	1	0	0	0	0	1	0	0	0	4297	652	23	1	985	1	DCAF12L1	23	125686182	Missense_Mutation	SNP	C	TCGA-UF-A71E-01A-31D-A34J-08	5504457	125686182	29584378	189	96170											
HS6ST2	90161	broad.mit.edu	37	chrX	132092430	132092430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctttcggggcttgtccagGagcggccgggtgtggaatcc	4	9	17	11	3	0	0	0	0	0	0	3	2	2	2	4	6	1	1	4	6	1	2			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:132092430G>A	ENST00000370836.2	-	2	616	c.201C>T	c.(199-201)ctC>ctT	p.L67L	HS6ST2_ENST00000521489.1_Silent_p.L67L	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	67						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GCTTGTCCAGGAGCGGCCGGG	0.721													3	11					0	0	0	0	A	132092430	G	A	132092430	2	1	495	1	0	0	0	0	0	0	0	1	7421	1161	41	2		2	HS6ST2	23	132092430	Silent	SNP	G	TCGA-UF-A71E-01A-31D-A34J-08	6406248	132092430	23178130	190	96171											
TAS1R3	83756	broad.mit.edu	37	chr1	1267740	1267740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctgctgttcgcctccGtgcacgccgcccacgccctc	2	9	11	19	5	0	0	0	0	0	0	3	0	1	0	5	1	3	4	5	1	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:1267740G>A	ENST00000339381.5	+	3	861	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	277					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GTTCGCCTCCGTGCACGCCGC	0.672													8	8					0	0	0	0	A	1267740	G	A	1267740	3	1	496	1	0	0	0	0	1	0	0	0	15655	1145	40	1	839	1	TAS1R3	1	1267740	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		1267740	247982881	1	96172											
MXRA8	54587	broad.mit.edu	37	chr1	1290669	1290669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggctctcgtagaggtGgcagtagtgatggtgcaggt	7	9	18	7	1	1	2	0	1	1	1	2	2	1	2	1	6	1	5	1	6	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:1290669G>C	ENST00000309212.6	-	4	463	c.433C>G	c.(433-435)Cac>Gac	p.H145D	MXRA8_ENST00000342753.4_Missense_Mutation_p.H44D|MXRA8_ENST00000445648.2_Missense_Mutation_p.H145D	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	145	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTAGAGGTGGCAGTAGTGA	0.726													5	33					0	0	0	0	C	1290669	G	C	1290669	3	2	496	1	0	0	0	0	1	0	0	0	10075	1348	47	4	923	4	MXRA8	1	1290669	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	22929	1290669	247959952	2	96173											
ACTRT2	140625	broad.mit.edu	37	chr1	2939273	2939273	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaccggtggttctccacCtggattggagcctccatcgt	5	10	11	15	3	1	0	0	0	1	0	4	3	2	2	6	4	1	1	6	4	0	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:2939273C>A	ENST00000378404.2	+	1	1228	c.1023C>A	c.(1021-1023)acC>acA	p.T341T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	341						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGTTCTCCACCTGGATTGGAG	0.607													55	118					4.6707e-30	5.80098e-30	1	0	A	2939273	C	A	2939273	2	1	496	1	0	0	0	0	0	0	0	1	219	668	24	4		4	ACTRT2	1	2939273	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1648604	2939273	246311348	3	96174											
BSDC1	55108	broad.mit.edu	37	chr1	32849516	32849516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatggttttgtctggcgaaGgggcaaaggtgtctgagatc	8	11	16	6	2	2	1	0	1	2	1	3	4	2	1	0	5	0	2	0	5	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:32849516G>A	ENST00000341071.7	-	4	334	c.323C>T	c.(322-324)cCt>cTt	p.P108L	BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000449308.1_Missense_Mutation_p.P91L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P108L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P91L|BSDC1_ENST00000455895.2_Missense_Mutation_p.P91L			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	91							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGGCGAAGGGGCAAAGGT	0.527													30	77					0	0	0	0	A	32849516	G	A	32849516	3	1	496	1	0	0	0	0	1	0	0	0	1536	1000	35	4	1052	4	BSDC1	1	32849516	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	29910243	32849516	216401105	4	96175											
SLC2A1	6513	broad.mit.edu	37	chr1	43395268	43395268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgggggcactcacagcgTtgatgccagacagctgctgg	7	7	17	10	1	1	2	1	1	0	1	1	2	1	2	1	4	4	4	1	4	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:43395268T>C	ENST00000426263.3	-	6	1041	c.863A>G	c.(862-864)aAc>aGc	p.N288S	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	288					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	ACTCACAGCGTTGATGCCAGA	0.602													15	30					0	0	0	0	C	43395268	T	C	43395268	3	2	496	1	0	0	0	0	1	0	0	0	14626	1725	60	5	635	5	SLC2A1	1	43395268	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	10545752	43395268	205855353	5	96176											
C1orf173	127254	broad.mit.edu	37	chr1	75038610	75038610	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcctctccctcctcCgatgtcgctgcctctctcag	3	11	6	21	2	4	0	2	0	2	0	9	1	6	0	6	0	2	1	6	0	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:75038610C>A	ENST00000326665.5	-	14	3002	c.2784G>T	c.(2782-2784)tcG>tcT	p.S928S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	928	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCCTCCTCCGATGTCGCTG	0.552													4	163					0.00024832	0.000259472	1	0	A	75038610	C	A	75038610	2	1	496	1	0	0	0	0	0	0	0	1	2033	639	23	3		3	C1orf173	1	75038610	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	31643342	75038610	174212011	6	96177											
KCNA3	3738	broad.mit.edu	37	chr1	111215769	111215769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattgttcgtggtgcaggTggcagtggaattgcccgttt	6	15	14	6	2	0	0	0	0	0	0	1	1	0	1	1	4	2	4	1	4	2	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:111215769T>A	ENST00000369769.2	-	1	1886	c.1663A>T	c.(1663-1665)Acc>Tcc	p.T555S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	555						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGTGCAGGTGGCAGTGGAA	0.458													46	116					0	0	0	0	A	111215769	T	A	111215769	3	1	496	1	0	0	0	0	1	0	0	0	8057	1696	59	5	68	5	KCNA3	1	111215769	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	36177159	111215769	138034852	7	96178											
SYCP1	6847	broad.mit.edu	37	chr1	115438112	115438112	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaaagaagtagaacttgaAgaattgaaaaaagtcttggt	20	9	9	3	0	1	5	0	2	1	3	1	5	1	5	0	1	2	1	0	1	10	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:115438112A>G	ENST00000369522.3	+	16	1542	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	SYCP1_ENST00000369518.1_Silent_p.E434E	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	434					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGAACTTGAAGAATTGAAAA	0.274													8	16					0	0	0	0	G	115438112	A	G	115438112	2	3	496	1	0	0	0	0	0	0	0	1	15522	69	3	5		5	SYCP1	1	115438112	Silent	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	4222343	115438112	133812509	8	96179											
TCHHL1	126637	broad.mit.edu	37	chr1	152058473	152058473	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcagttcacctgtctctGagctgctattgccttcctct	5	14	8	14	0	3	1	1	1	2	0	5	1	4	1	3	1	3	4	3	1	1	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:152058473G>C	ENST00000368806.1	-	3	1749	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	562							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACCTGTCTCTGAGCTGCTATT	0.542													40	150					0	0	0	0	C	152058473	G	C	152058473	4	2	496	1	0	0	0	0	0	1	0	0	15795	1294	45	2	1033	2	TCHHL1	1	152058473	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	36620361	152058473	97192148	9	96180											
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	5	14	11	11	0	4	1	0	1	4	0	4	2	4	2	3	2	1	0	3	2	2	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512													9	1156					0	0	0	0	G	152128186	A	G	152128186	2	3	496	1	0	0	0	0	0	0	0	1	13749	224	8	5		5	RPTN	1	152128186	Silent	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	69713	152128186	97122435	10	96181											
SPTA1	6708	broad.mit.edu	37	chr1	158604344	158604344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcctcacctgagtagcagCtaatgtatctccacaatctc	10	12	6	13	0	3	1	1	1	2	0	6	1	4	1	3	0	2	5	3	0	4	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158604344C>A	ENST00000368148.3	-	39	5734	c.5554G>T	c.(5554-5556)Gct>Tct	p.A1852S	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1852S|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1852					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGTAGCAGCTAATGTATCT	0.393													33	150					4.14481e-20	4.97092e-20	1	0	A	158604344	C	A	158604344	3	1	496	1	0	0	0	0	1	0	0	0	15206	797	28	4	1761	4	SPTA1	1	158604344	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	6476158	158604344	90646277	11	96182											
SPTA1	6708	broad.mit.edu	37	chr1	158636108	158636108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagctaacaacaaacctGacgagcagccacagccgact	17	3	8	13	2	0	2	0	1	0	1	0	4	0	2	3	0	7	2	3	0	4	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158636108G>T	ENST00000368148.3	-	16	2398	c.2218C>A	c.(2218-2220)Cag>Aag	p.Q740K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q740K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	740					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAACAAACCTGACGAGCAGCC	0.463													12	46					7.93312e-07	8.54524e-07	1	0	T	158636108	G	T	158636108	3	4	496	1	0	0	0	0	1	0	0	0	15206	1299	45	2	5189	2	SPTA1	1	158636108	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	31764	158636108	90614513	12	96183											
OR6K3	391114	broad.mit.edu	37	chr1	158687738	158687738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaattatacatggggttGtggagatgggtgtccagcct	11	12	13	5	0	0	1	0	0	0	1	1	2	1	1	2	4	2	1	2	4	4	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158687738G>T	ENST00000368146.1	-	1	215	c.216C>A	c.(214-216)caC>caA	p.H72Q	OR6K3_ENST00000368145.1_Missense_Mutation_p.H56Q			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACATGGGGTTGTGGAGATGGG	0.383													26	228					8.24728e-16	9.69125e-16	1	0	T	158687738	G	T	158687738	3	4	496	1	0	0	0	0	1	0	0	0	11274	1368	48	4	781	4	OR6K3	1	158687738	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	51630	158687738	90562883	13	96184											
PYHIN1	149628	broad.mit.edu	37	chr1	158913681	158913681	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaatatcccctgtgaaaaAggagataagcttcgactctt	14	10	7	10	1	1	2	0	1	1	1	3	4	2	2	2	1	1	1	2	1	5	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158913681A>T	ENST00000368140.1	+	6	1349	c.1104A>T	c.(1102-1104)aaA>aaT	p.K368N	PYHIN1_ENST00000392254.2_Missense_Mutation_p.K368N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K359N|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K359N	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	368	HIN-200.				cell cycle	nuclear speck				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)					CCTGTGAAAAAGGAGATAAGC	0.373													27	59					0	0	0	0	T	158913681	A	T	158913681	3	4	496	1	0	0	0	0	1	0	0	0	12947	69	3	5	1122	5	PYHIN1	1	158913681	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	225943	158913681	90336940	14	96185											
ADCY10	55811	broad.mit.edu	37	chr1	167823634	167823634	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttttcctcagactcCgtttgttggaaaacgagtac	8	16	8	9	2	2	1	1	0	1	1	4	3	4	2	2	1	2	3	2	1	3	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:167823634C>G	ENST00000367848.1	-	18	2486	c.1989G>C	c.(1987-1989)acG>acC	p.T663T	ADCY10_ENST00000367851.4_Silent_p.T755T|ADCY10_ENST00000545172.1_Silent_p.T602T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	755					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTCAGACTCCGTTTGTTGGA	0.433													12	122					0	0	0	0	G	167823634	C	G	167823634	2	3	496	1	0	0	0	0	0	0	0	1	293	639	23	3		3	ADCY10	1	167823634	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	8909953	167823634	81426987	15	96186											
KIFAP3	22920	broad.mit.edu	37	chr1	170001043	170001043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctcgtaatagctgttcCtgttttaccacaagcccctg	9	13	6	13	1	0	0	0	0	0	0	2	0	1	0	5	0	4	4	5	0	5	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:170001043C>A	ENST00000367765.1	-	8	2206	c.705G>T	c.(703-705)caG>caT	p.Q235H	KIFAP3_ENST00000367767.1_Missense_Mutation_p.Q231H|KIFAP3_ENST00000538366.1_Missense_Mutation_p.Q197H|KIFAP3_ENST00000361580.2_Missense_Mutation_p.Q275H	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	275					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATAGCTGTTCCTGTTTTACCA	0.348													46	237					9.22156e-22	1.11747e-21	1	0	A	170001043	C	A	170001043	3	1	496	1	0	0	0	0	1	0	0	0	8362	680	24	4	1605	4	KIFAP3	1	170001043	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	2177409	170001043	79249578	16	96187											
RFWD2	64326	broad.mit.edu	37	chr1	176175841	176175841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgctgggcctggccgCgcagctgtgccgggacaggc	3	4	19	15	5	0	0	0	0	0	0	0	1	0	1	4	5	2	3	4	5	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:176175841C>A	ENST00000367669.3	-	1	788	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S	RFWD2_ENST00000308769.8_Missense_Mutation_p.A92S	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	92	Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCCTGGCCGCGCAGCTGTGC	0.756													4	24					0.150653	0.15196	1	0	A	176175841	C	A	176175841	3	1	496	1	0	0	0	0	1	0	0	0	13342	768	27	3	2001	3	RFWD2	1	176175841	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	6174798	176175841	73074780	17	96188											
HMCN1	83872	broad.mit.edu	37	chr1	186158649	186158649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttgtccttaggttctGcctcaagaactgtccaccca	7	14	8	12	0	2	1	1	0	1	1	4	1	4	1	4	1	2	3	4	1	3	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:186158649G>T	ENST00000271588.4	+	107	16776	c.16547G>T	c.(16546-16548)tGc>tTc	p.C5516F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5399F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5516					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTAGGTTCTGCCTCAAGAAC	0.428													29	83					5.77227e-19	6.8755e-19	1	0	T	186158649	G	T	186158649	3	4	496	1	0	0	0	0	1	0	0	0	7270	1319	46	4	16973	4	HMCN1	1	186158649	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	9982808	186158649	63091972	18	96189											
F13B	2165	broad.mit.edu	37	chr1	197026314	197026314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtggttcctcacaggctaCcttctcctgtccttctgaaa	6	13	9	13	0	3	1	1	1	2	0	6	1	5	1	4	3	1	2	4	3	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:197026314C>A	ENST00000367412.1	-	7	1043	c.1000G>T	c.(1000-1002)Gta>Tta	p.V334L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	334	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCACAGGCTACCTTCTCCTGT	0.388													22	89					3.10358e-05	3.29225e-05	1	0	A	197026314	C	A	197026314	3	1	496	1	0	0	0	0	1	0	0	0	5379	507	18	4	1009	4	F13B	1	197026314	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	10867665	197026314	52224307	19	96190											
SRGAP2	23380	broad.mit.edu	37	chr1	206619613	206619613	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggagctggagggccctgtCtacagcagaggaggaagcat	11	5	17	8	0	1	1	0	0	1	1	1	5	1	5	1	5	4	3	1	5	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:206619613C>G	ENST00000414007.1	+	14	1647	c.1647C>G	c.(1645-1647)gtC>gtG	p.V549V	SRGAP2_ENST00000419187.2_5'UTR|SRGAP2_ENST00000471256.1_3'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	689	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGGGCCCTGTCTACAGCAGAG	0.582													47	169					0	0	0	0	G	206619613	C	G	206619613	2	3	496	1	0	0	0	0	0	0	0	1	15236	900	32	2		2	SRGAP2	1	206619613	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	9593299	206619613	42631008	20	96191											
USH2A	7399	broad.mit.edu	37	chr1	215901716	215901716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagactcctcttcaatgcCagcagggcgtctgaaaggaa	13	7	10	11	1	3	2	1	1	2	1	4	3	4	3	2	2	3	1	2	2	4	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:215901716C>T	ENST00000366943.2	-	61	12108	c.11722G>A	c.(11722-11724)Ggc>Agc	p.G3908S	USH2A_ENST00000307340.3_Missense_Mutation_p.G3908S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3908	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTCAATGCCAGCAGGGCGT	0.428										HNSCC(13;0.011)			22	40					0	0	0	0	T	215901716	C	T	215901716	3	4	496	1	0	0	0	0	1	0	0	0	17132	594	21	4	3934	4	USH2A	1	215901716	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	9282103	215901716	33348905	21	96192											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650782	232650782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcataactggtctgagaccGgctttcccacagtgccttgc	7	12	9	13	1	2	1	1	1	1	1	3	2	3	1	3	2	3	1	3	2	1	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:232650782G>A	ENST00000366630.1	-	2	662	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R102W			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	102					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTCTGAGACCGGCTTTCCCAC	0.522													45	170					0	0	0	0	A	232650782	G	A	232650782	3	1	496	1	0	0	0	0	1	0	0	0	14418	1115	39	1	4948	1	SIPA1L2	1	232650782	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	16749066	232650782	16599839	22	96193											
OPN3	23596	broad.mit.edu	37	chr1	241761125	241761125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtacgaaacaatagataTtgttggagtgaccaggtgac	14	9	13	5	1	0	3	0	2	0	1	0	6	0	4	1	3	2	2	1	3	5	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:241761125T>A	ENST00000366554.2	-	3	974	c.868A>T	c.(868-870)Ata>Tta	p.I290L	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.I211L	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	290					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACAATAGATATTGTTGGAGTG	0.383													38	101					0	0	0	0	A	241761125	T	A	241761125	3	1	496	1	0	0	0	0	1	0	0	0	10952	1493	52	5	348	5	OPN3	1	241761125	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	9110343	241761125	7489496	23	96194											
PXDN	7837	broad.mit.edu	37	chr2	1653421	1653421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gatgaggttcaggtactgtgGagacaccaggtcgttgtagt	9	11	15	6	1	1	2	1	1	0	1	2	4	1	2	1	4	1	4	1	4	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:1653421G>C	ENST00000252804.4	-	17	2181	c.2131C>G	c.(2131-2133)Cca>Gca	p.P711A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	711					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGTACTGTGGAGACACCAGG	0.592													12	86					0	0	0	0	C	1653421	G	C	1653421	3	2	496	1	0	0	0	0	1	0	0	0	12929	1174	41	2	2336	2	PXDN	2	1653421	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		1653421	241545952	24	96195											
APOB	338	broad.mit.edu	37	chr2	21234153	21234153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttgagccgatggctaaactCcacaccctgaaccttagcaa	12	8	8	13	1	0	2	0	2	0	0	1	3	1	2	4	1	4	3	4	1	5	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:21234153C>G	ENST00000233242.1	-	26	5714	c.5587G>C	c.(5587-5589)Gag>Cag	p.E1863Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1863					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGCTAAACTCCACACCCTGA	0.438													41	107					0	0	0	0	G	21234153	C	G	21234153	3	3	496	1	0	0	0	0	1	0	0	0	787	864	30	2	8120	2	APOB	2	21234153	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	19580732	21234153	221965220	25	96196											
USP34	9736	broad.mit.edu	37	chr2	61546400	61546400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccaatggagtgcatcatCataacattcagaatcttcta	16	11	5	9	0	5	1	3	0	2	1	5	2	5	2	1	1	3	1	1	1	5	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:61546400C>G	ENST00000398571.2	-	22	3152	c.3076G>C	c.(3076-3078)Gat>Cat	p.D1026H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1026					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTGCATCATCATAACATTCA	0.308													49	153					0	0	0	0	G	61546400	C	G	61546400	3	3	496	1	0	0	0	0	1	0	0	0	17161	826	29	2	7800	2	USP34	2	61546400	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	40312247	61546400	181652973	26	96197											
ASPRV1	151516	broad.mit.edu	37	chr2	70188050	70188050	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctagggacaccgctgtatcCcagacacccaggatcttcat	10	8	8	15	1	2	1	1	0	1	1	3	3	3	3	4	2	0	2	4	2	2	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:70188050C>T	ENST00000320256.4	-	1	1347	c.771G>A	c.(769-771)tgG>tgA	p.W257*		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	257	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCGCTGTATCCCAGACACCCA	0.557													23	80					0	0	0	0	T	70188050	C	T	70188050	4	4	496	1	0	0	0	0	0	1	0	0	1062	624	22	4	264	4	ASPRV1	2	70188050	Nonsense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	8641650	70188050	173011323	27	96198											
TSGA10	80705	broad.mit.edu	37	chr2	99695171	99695171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatattctcagattttttaTccaaacatgcttgcaggcat	12	15	5	9	0	1	1	1	0	1	1	3	1	2	1	1	1	3	3	1	1	4	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:99695171T>C	ENST00000393483.3	-	12	1677	c.833A>G	c.(832-834)gAt>gGt	p.D278G	TSGA10_ENST00000410001.1_Missense_Mutation_p.D278G|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000539964.1_Missense_Mutation_p.D278G|TSGA10_ENST00000542655.1_Missense_Mutation_p.D278G|TSGA10_ENST00000355053.4_Missense_Mutation_p.D278G	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	278					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGATTTTTTATCCAAACATGC	0.363													7	103					0	0	0	0	C	99695171	T	C	99695171	3	2	496	1	0	0	0	0	1	0	0	0	16712	1435	50	5	1303	5	TSGA10	2	99695171	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	29507121	99695171	143504202	28	96199											
SLC9A2	6549	broad.mit.edu	37	chr2	103322355	103322355	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctaaaaatacgaagctTccagaaaagctacaaaagag	20	7	6	8	1	0	2	0	0	0	2	1	3	1	2	2	0	5	2	2	0	11	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:103322355T>C	ENST00000233969.2	+	11	2170	c.2028T>C	c.(2026-2028)ctT>ctC	p.L676L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	676						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATACGAAGCTTCCAGAAAAGC	0.308													32	67					0	0	0	0	C	103322355	T	C	103322355	2	2	496	1	0	0	0	0	0	0	0	1	14800	1770	62	5		5	SLC9A2	2	103322355	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	3627184	103322355	139877018	29	96200											
MERTK	10461	broad.mit.edu	37	chr2	112786262	112786262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtgaggaatgggaagatCtgacttctgccccctctgct	8	10	12	11	0	3	3	0	2	3	1	3	5	3	5	2	2	2	2	2	2	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:112786262C>G	ENST00000295408.4	+	19	3078	c.2821C>G	c.(2821-2823)Ctg>Gtg	p.L941V	MERTK_ENST00000421804.2_Missense_Mutation_p.L941V|MERTK_ENST00000409780.1_Missense_Mutation_p.L765V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	941					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATGGGAAGATCTGACTTCTGC	0.537													27	50					0	0	0	0	G	112786262	C	G	112786262	3	3	496	1	0	0	0	0	1	0	0	0	9548	912	32	2	2895	2	MERTK	2	112786262	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	9463907	112786262	130413111	30	96201											
DDX18	8886	broad.mit.edu	37	chr2	118579836	118579836	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattattaaacttttgccAagtaagtaggtagcatctgc	14	13	7	7	0	1	0	0	0	1	0	1	0	1	0	1	1	4	4	1	1	8	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:118579836A>G	ENST00000263239.2	+	7	1193	c.1066_splice	c.e7+1	p.P355_splice	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	355	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTTTTGCCAAGTAAGTAGG	0.358													10	50					0	0	0	0	G	118579836	A	G	118579836	5	3	496	1	0	0	0	0	0	0	1	0	4377	144	5	5	1091	5	DDX18	2	118579836	Splice_Site	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	5793574	118579836	124619537	31	96202											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204342	125204342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcacaggtgacagcaaagCgcggctcagcagcagcttgc	10	6	12	13	2	2	1	2	1	0	0	2	1	2	1	0	2	6	5	0	2	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:125204342C>T	ENST00000431078.1	+	6	1110	c.746C>T	c.(745-747)gCg>gTg	p.A249V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	249	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAGCAAAGCGCGGCTCAGC	0.582													8	39					0	0	0	0	T	125204342	C	T	125204342	3	4	496	1	0	0	0	0	1	0	0	0	3680	768	27	1	768	1	CNTNAP5	2	125204342	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	6624506	125204342	117995031	32	96203											
RIF1	55183	broad.mit.edu	37	chr2	152321641	152321641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccgtgtttaggagactcGaaaaatgtttcacaggaatc	12	10	11	8	2	1	1	1	0	0	1	3	4	1	2	1	3	0	2	1	3	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:152321641G>A	ENST00000243326.4	+	29	6090	c.5607G>A	c.(5605-5607)tcG>tcA	p.S1869S	RIF1_ENST00000453091.2_Silent_p.S1869S|RIF1_ENST00000428287.2_Silent_p.S1869S|RIF1_ENST00000444746.2_Silent_p.S1869S|RIF1_ENST00000430328.2_Silent_p.S1869S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1869					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGGAGACTCGAAAAATGTTT	0.373													32	82					0	0	0	0	A	152321641	G	A	152321641	2	1	496	1	0	0	0	0	0	0	0	1	13442	1045	37	1		1	RIF1	2	152321641	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	27117299	152321641	90877732	33	96204											
ERMN	57471	broad.mit.edu	37	chr2	158177959	158177959	+	Missense_Mutation	SNP	G	G	T																															ggaactggcactgctcagtgGggagtcctcacttgcatcac																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:158177959G>T	ENST00000410096.1	-	3	970	c.679C>A	c.(679-681)Cca>Aca	p.P227T	ERMN_ENST00000420719.2_Missense_Mutation_p.P207T|ERMN_ENST00000397283.2_Missense_Mutation_p.P240T|ERMN_ENST00000535935.1_Missense_Mutation_p.P121T	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	227						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CTGCTCAGTGGGGAGTCCTCA	0.413													45	181					1.00776e-21	1.21698e-21	1	0	T	158177959	G	T	158177959	3	4	496	1	0	0	0	0	1	0	0	0	5273	1232	43	4	179	4	ERMN	2	158177959	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	5856318	158177959	85021414	34	96205	1146	2									
ERMN	57471	broad.mit.edu	37	chr2	158177960	158177960	+	Silent	SNP	G	G	T																															gaactggcactgctcagtggGgagtcctcacttgcatcacc																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:158177960G>T	ENST00000410096.1	-	3	969	c.678C>A	c.(676-678)tcC>tcA	p.S226S	ERMN_ENST00000420719.2_Silent_p.S206S|ERMN_ENST00000397283.2_Silent_p.S239S|ERMN_ENST00000535935.1_Silent_p.S120S	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	226						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGCTCAGTGGGGAGTCCTCAC	0.408													46	182					6.31075e-24	7.70088e-24	1	0	T	158177960	G	T	158177960	2	4	496	1	0	0	0	0	0	0	0	1	5273	1219	43	4		4	ERMN	2	158177960	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1	158177960	85021413	35	96206	1146	2									
FAP	2191	broad.mit.edu	37	chr2	163070542	163070542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagccactgcaaacatactCgttcatcagtaacccacgtg	12	10	6	13	2	2	0	2	0	0	0	3	0	2	0	2	0	5	3	2	0	4	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:163070542C>A	ENST00000188790.4	-	11	1115	c.908G>T	c.(907-909)cGa>cTa	p.R303L	FAP_ENST00000443424.1_Missense_Mutation_p.R278L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	303					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.R303L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CAAACATACTCGTTCATCAGT	0.408													34	137					2.08457e-15	2.44132e-15	1	0	A	163070542	C	A	163070542	3	1	496	1	0	0	0	0	1	0	0	0	5718	884	31	3	1438	3	FAP	2	163070542	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	4892582	163070542	80128831	36	96207											
OSBPL6	114880	broad.mit.edu	37	chr2	179259114	179259114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaactccagagatctcggaGacgatatatggaagaaaaca	17	6	11	7	2	1	3	0	0	1	3	3	8	2	5	1	3	2	0	1	3	6	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179259114G>C	ENST00000190611.4	+	24	3024	c.2648G>C	c.(2647-2649)aGa>aCa	p.R883T	OSBPL6_ENST00000315022.2_Missense_Mutation_p.R887T|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R847T|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R847T|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R852T|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R908T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	883					lipid transport		lipid binding	p.R908I(1)|p.R883I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGATCTCGGAGACGATATATG	0.358													36	148					0	0	0	0	C	179259114	G	C	179259114	3	2	496	1	0	0	0	0	1	0	0	0	11352	942	33	2	2856	2	OSBPL6	2	179259114	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	16188572	179259114	63940259	37	96208											
TTN	7273	broad.mit.edu	37	chr2	179431719	179431719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagcacaaatggatttttCattagtactggtgcagattc	12	13	10	6	0	1	1	1	0	0	1	2	3	1	3	0	3	3	3	0	3	4	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179431719C>G	ENST00000589042.1	-	326	79364	c.79140G>C	c.(79138-79140)atG>atC	p.M26380I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M24739I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M17440I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M23812I|TTN_ENST00000342175.6_Missense_Mutation_p.M17507I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M17315I|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24739	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGATTTTTCATTAGTACTG	0.408													66	171					0	0	0	0	G	179431719	C	G	179431719	3	3	496	1	0	0	0	0	1	0	0	0	16831	826	29	2	28987	2	TTN	2	179431719	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	172605	179431719	63767654	38	96209											
TTN	7273	broad.mit.edu	37	chr2	179546430	179546430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgtgggaactggttcttCtgggacaggctttacaggga	7	14	14	6	0	2	0	0	0	2	0	2	3	2	3	0	5	2	2	0	5	2	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179546430C>T	ENST00000589042.1	-	136	33354	c.33130G>A	c.(33130-33132)Gaa>Aaa	p.E11044K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10727K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9800K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10727	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGTTCTTCTGGGACAGGC	0.378													22	75					0	0	0	0	T	179546430	C	T	179546430	3	4	496	1	0	0	0	0	1	0	0	0	16831	922	32	2	71307	2	TTN	2	179546430	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	114711	179546430	63652943	39	96210											
SATB2	23314	broad.mit.edu	37	chr2	200137051	200137051	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttctcctctgactcggtCagcagctcctcgtccttata	5	14	7	15	3	3	1	1	1	2	0	9	1	5	1	3	1	2	3	3	1	2	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:200137051C>A	ENST00000443023.1	-	10	3373	c.1908G>T	c.(1906-1908)ctG>ctT	p.L636L	SATB2_ENST00000428695.1_Silent_p.L577L|SATB2_ENST00000457245.1_Silent_p.L695L|SATB2_ENST00000260926.5_Silent_p.L695L|SATB2_ENST00000417098.1_Silent_p.L695L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	695						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGACTCGGTCAGCAGCTCCT	0.577													18	115					1.33834e-09	1.4781e-09	1	0	A	200137051	C	A	200137051	2	1	496	1	0	0	0	0	0	0	0	1	13940	813	29	2		2	SATB2	2	200137051	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	20590621	200137051	43062322	40	96211											
GPR1	2825	broad.mit.edu	37	chr2	207041495	207041495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagccaaaagccagatgaaTataatgacaatcagagagtt	19	7	9	6	0	1	4	1	2	0	2	1	6	1	4	2	0	2	1	2	0	7	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:207041495T>C	ENST00000407325.2	-	3	839	c.477A>G	c.(475-477)atA>atG	p.I159M	GPR1_ENST00000437420.1_Missense_Mutation_p.I159M	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	159						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GCCAGATGAATATAATGACAA	0.433													30	99					0	0	0	0	C	207041495	T	C	207041495	3	2	496	1	0	0	0	0	1	0	0	0	6670	1396	49	5	594	5	GPR1	2	207041495	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	6904444	207041495	36157878	41	96212											
GPR1	2825	broad.mit.edu	37	chr2	207041523	207041523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatcagagagttcttgaggGttcgatgccgatgagataag	12	10	13	6	2	2	3	1	2	1	2	3	7	2	3	1	1	1	2	1	1	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:207041523G>T	ENST00000407325.2	-	3	811	c.449C>A	c.(448-450)aCc>aAc	p.T150N	GPR1_ENST00000437420.1_Missense_Mutation_p.T150N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	150						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GTTCTTGAGGGTTCGATGCCG	0.458													30	110					3.99451e-17	4.74178e-17	1	0	T	207041523	G	T	207041523	3	4	496	1	0	0	0	0	1	0	0	0	6670	1261	44	4	622	4	GPR1	2	207041523	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	28	207041523	36157850	42	96213											
MAP2	4133	broad.mit.edu	37	chr2	210559487	210559487	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaacggacagtcagctcGaagacctgggctactgtgtg	12	8	12	9	2	1	1	1	0	0	1	2	3	1	2	1	2	3	2	1	2	5	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:210559487G>T	ENST00000360351.4	+	7	3099	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E861*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	865					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGTCAGCTCGAAGACCTGGG	0.468													21	77					1.00905e-13	1.16996e-13	1	0	T	210559487	G	T	210559487	4	4	496	1	0	0	0	0	0	1	0	0	9304	1059	37	3	2607	3	MAP2	2	210559487	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	3517964	210559487	32639886	43	96214											
CPS1	1373	broad.mit.edu	37	chr2	211464276	211464276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatgggtggccagacagctCtgaactgtggtgagttctta	8	11	14	8	0	2	3	0	2	2	1	2	3	2	3	1	3	2	3	1	3	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:211464276C>T	ENST00000233072.5	+	14	1736	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	CPS1_ENST00000430249.2_Silent_p.L520L|CPS1_ENST00000451903.2_Silent_p.L63L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	514					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			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)		CCAGACAGCTCTGAACTGTGG	0.428													25	85					0	0	0	0	T	211464276	C	T	211464276	2	4	496	1	0	0	0	0	0	0	0	1	3853	912	32	2		2	CPS1	2	211464276	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	904789	211464276	31735097	44	96215											
CHPF	79586	broad.mit.edu	37	chr2	220404341	220404341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctccagcagctcctcttCttgttctgaggctgccgcca	4	12	9	16	1	4	1	0	1	4	0	6	1	5	1	4	1	3	5	4	1	0	3	rs143750392	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:220404341C>T	ENST00000243776.6	-	4	2340	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	CHPF_ENST00000535926.1_Missense_Mutation_p.E536K	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	698						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTCCTCTTCTTGTTCTGAG	0.637													36	88					0	0	0	0	T	220404341	C	T	220404341	3	4	496	1	0	0	0	0	1	0	0	0	3397	922	32	2	239	2	CHPF	2	220404341	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	8940065	220404341	22795032	45	96216											
STK11IP	114790	broad.mit.edu	37	chr2	220473437	220473437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcgcaccttggagcGactggagctccagagtctgg	8	7	14	12	2	1	1	0	0	1	1	3	4	2	3	2	3	4	4	2	3	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:220473437G>T	ENST00000456909.1	+	15	1826	c.1736G>T	c.(1735-1737)cGa>cTa	p.R579L	STK11IP_ENST00000295641.10_Missense_Mutation_p.R590L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	590	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTTGGAGCGACTGGAGCTC	0.657													12	25					3.07112e-06	3.28779e-06	1	0	T	220473437	G	T	220473437	3	4	496	1	0	0	0	0	1	0	0	0	15378	1058	37	3	1827	3	STK11IP	2	220473437	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	69096	220473437	22725936	46	96217											
PAX3	5077	broad.mit.edu	37	chr2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatctgattggggtgctGaggctaaaagcacagaagaa	13	9	12	7	0	2	4	1	2	1	2	2	4	2	4	0	3	2	3	0	3	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:223096999G>A	ENST00000350526.4	-	5	726	c.590C>T	c.(589-591)tCa>tTa	p.S197L	PAX3_ENST00000409551.3_Missense_Mutation_p.S196L|PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000392070.2_Missense_Mutation_p.S197L|PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000344493.4_Missense_Mutation_p.S197L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	197					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGTGCTGAGGCTAAAAG	0.413			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						33	67					0	0	0	0	A	223096999	G	A	223096999	3	1	496	1	0	0	0	0	1	0	0	0	11551	1294	45	2	979	2	PAX3	2	223096999	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2623562	223096999	20102374	47	96218											
ESPNL	339768	broad.mit.edu	37	chr2	239013483	239013483	+	Splice_Site	DEL	G	G	-																															tactccctcgtcgtctggctGgtaagtgggtgccagaggtg																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:239013483delG	ENST00000343063.3	+	3	935	c.672_splice	c.e3+1	p.L224_splice	ESPNL_ENST00000409169.1_Splice_Site_p.L224_splice	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	224										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCGTCTGGCTGGTAAGTGGGT	0.667													2	4	---	---	---	---					-	239013483	G	-	239013483	8	5	496	1	0	1	0	1	0	0	1	0	5293	1362	47	0	682	0	ESPNL	2	239013483	Splice_Site	DEL	G	TCGA-UF-A7J9-01A-12D-A34J-08	15916484	239013483	4185890	48	96219											
KIF1A	547	broad.mit.edu	37	chr2	241702674	241702674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaggctcagctggcgtctCcgcacaaggcgtgcgctcac	7	6	12	16	4	3	0	2	0	1	0	4	0	3	0	1	3	2	4	1	3	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:241702674C>T	ENST00000498729.2	-	21	2104	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E611K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	611					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTGGCGTCTCCGCACAAGGC	0.637													5	22					0	0	0	0	T	241702674	C	T	241702674	3	4	496	1	0	0	0	0	1	0	0	0	8334	864	30	2	3353	2	KIF1A	2	241702674	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	2689191	241702674	1496699	49	96220											
KIF1A	547	broad.mit.edu	37	chr2	241702692	241702692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccgcacaaggcgtgcgctCacgctcctgccgggcctgct	4	7	12	18	5	1	0	1	0	0	0	3	0	3	0	4	2	3	4	4	2	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:241702692C>T	ENST00000498729.2	-	21	2086	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E605K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	605					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCGTGCGCTCACGCTCCTGC	0.627													5	18					0	0	0	0	T	241702692	C	T	241702692	3	4	496	1	0	0	0	0	1	0	0	0	8334	835	29	2	3371	2	KIF1A	2	241702692	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	18	241702692	1496681	50	96221											
CNTN4	152330	broad.mit.edu	37	chr3	3084692	3084692	+	Missense_Mutation	SNP	A	A	C																															gagacatgaagacaaagaagAaaatgctagaaaaatacgaa																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:3084692A>C	ENST00000397461.1	+	21	2927	c.2543A>C	c.(2542-2544)gAa>gCa	p.E848A	CNTN4_ENST00000448906.2_Missense_Mutation_p.E520A|CNTN4_ENST00000358480.3_Missense_Mutation_p.E629A|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848A|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848A|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520A	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	848	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GACAAAGAAGAAAATGCTAGA	0.353													4	42					0	0	0	0	C	3084692	A	C	3084692	3	2	496	1	0	0	0	0	1	0	0	0	3673	246	9	5	2617	5	CNTN4	3	3084692	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08		3084692	194937738	51	96222	1147	2									
CNTN4	152330	broad.mit.edu	37	chr3	3084693	3084693	+	Missense_Mutation	SNP	A	A	T																															agacatgaagacaaagaagaAaatgctagaaaaatacgaac																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:3084693A>T	ENST00000397461.1	+	21	2928	c.2544A>T	c.(2542-2544)gaA>gaT	p.E848D	CNTN4_ENST00000448906.2_Missense_Mutation_p.E520D|CNTN4_ENST00000358480.3_Missense_Mutation_p.E629D|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848D|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848D|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	848	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACAAAGAAGAAAATGCTAGAA	0.353													4	42					0	0	0	0	T	3084693	A	T	3084693	3	4	496	1	0	0	0	0	1	0	0	0	3673	11	1	5	2618	5	CNTN4	3	3084693	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	1	3084693	194937737	52	96223	1147	2									
PRICKLE2	166336	broad.mit.edu	37	chr3	64085134	64085134	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggcctatcttttaaccGggagatggcctcgcgttcgc	6	10	14	11	4	1	1	0	0	1	1	3	2	1	1	3	4	1	1	3	4	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:64085134G>T	ENST00000295902.6	-	8	2713	c.2128C>A	c.(2128-2130)Cgg>Agg	p.R710R	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.R766R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	710	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTTTTAACCGGGAGATGGCC	0.637													19	64					2.37509e-13	2.74473e-13	1	0	T	64085134	G	T	64085134	2	4	496	1	0	0	0	0	0	0	0	1	12567	1115	39	3		3	PRICKLE2	3	64085134	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	61000441	64085134	133937296	53	96224											
ROBO2	6092	broad.mit.edu	37	chr3	77651526	77651526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagatcttgcattccaacaGcatacatgaattggctgtcg	12	11	8	10	1	1	2	0	1	1	1	3	2	2	2	1	1	4	3	1	1	3	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:77651526G>A	ENST00000461745.1	+	20	3920	c.3020G>A	c.(3019-3021)aGc>aAc	p.S1007N	ROBO2_ENST00000332191.8_Missense_Mutation_p.S1007N|ROBO2_ENST00000487694.3_Missense_Mutation_p.S1023N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1007					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATTCCAACAGCATACATGAA	0.423													20	48					0	0	0	0	A	77651526	G	A	77651526	3	1	496	1	0	0	0	0	1	0	0	0	13599	971	34	4	3100	4	ROBO2	3	77651526	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	13566392	77651526	120370904	54	96225											
TOMM70A	9868	broad.mit.edu	37	chr3	100093991	100093991	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgatgagagcatttgcTcgaagctatataccccaagt	11	13	8	9	1	0	2	0	2	0	1	1	4	0	2	2	0	4	3	2	0	5	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:100093991T>A	ENST00000284320.5	-	7	1546	c.1098A>T	c.(1096-1098)cgA>cgT	p.R366R		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	366					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GAGCATTTGCTCGAAGCTATA	0.398													36	185					0	0	0	0	A	100093991	T	A	100093991	2	1	496	1	0	0	0	0	0	0	0	1	16457	1538	54	5		5	TOMM70A	3	100093991	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	22442465	100093991	97928439	55	96226											
KIAA1524	57650	broad.mit.edu	37	chr3	108284262	108284262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggtttaagtttgttaatCaaatcaagagttttcaaaat	16	16	6	3	0	3	1	3	0	0	1	3	1	3	1	0	1	0	4	0	1	7	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:108284262C>G	ENST00000295746.8	-	12	1531	c.1455G>C	c.(1453-1455)ttG>ttC	p.L485F	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.L326F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	485						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTTGTTAATCAAATCAAGAG	0.289													25	191					0	0	0	0	G	108284262	C	G	108284262	3	3	496	1	0	0	0	0	1	0	0	0	8290	825	29	2	1302	2	KIAA1524	3	108284262	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	8190271	108284262	89738168	56	96227											
NEK11	79858	broad.mit.edu	37	chr3	130799420	130799420	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataatttctgcattatcacGgagtactgtgaggtgagact	11	13	11	6	1	2	2	1	2	1	1	2	5	2	3	0	2	2	2	0	2	3	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:130799420G>T	ENST00000383366.4	+	4	617	c.324G>T	c.(322-324)acG>acT	p.T108T	NEK11_ENST00000507910.1_Silent_p.T108T|NEK11_ENST00000356918.4_Silent_p.T108T|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000508196.1_Silent_p.T108T|NEK11_ENST00000511262.1_Silent_p.T108T|NEK11_ENST00000510769.1_Silent_p.T108T|NEK11_ENST00000429253.2_Silent_p.T108T|NEK11_ENST00000510688.1_Silent_p.T108T	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	108	Protein kinase.		T -> M (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GCATTATCACGGAGTACTGTG	0.418													11	71					7.03913e-09	7.70111e-09	1	0	T	130799420	G	T	130799420	2	4	496	1	0	0	0	0	0	0	0	1	10393	1103	39	3		3	NEK11	3	130799420	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	22515158	130799420	67223010	57	96228											
SLCO2A1	6578	broad.mit.edu	37	chr3	133663989	133663989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgctgcagccggcatGgcaaggggagaggtactcga	9	7	17	8	2	0	1	0	0	0	1	1	4	0	1	1	5	4	6	1	5	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:133663989G>A	ENST00000310926.4	-	10	1684	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.H395Y	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	471	Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAGCCGGCATGGCAAGGGGAG	0.592													158	285					0	0	0	0	A	133663989	G	A	133663989	3	1	496	1	0	0	0	0	1	0	0	0	14814	1348	47	4	540	4	SLCO2A1	3	133663989	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2864569	133663989	64358441	58	96229											
SPATA16	83893	broad.mit.edu	37	chr3	172631466	172631466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttaccttttggatcatattCcacacacgttcattattgtt	9	19	4	9	1	2	0	2	0	0	0	3	1	3	1	2	1	1	2	2	1	3	10			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:172631466C>G	ENST00000351008.3	-	10	1755	c.1572G>C	c.(1570-1572)tgG>tgC	p.W524C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	524					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGATCATATTCCACACACGTT	0.373													19	128					0	0	0	0	G	172631466	C	G	172631466	3	3	496	1	0	0	0	0	1	0	0	0	15091	856	30	2	145	2	SPATA16	3	172631466	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	38967477	172631466	25390964	59	96230											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	80					0	0	0	0	A	178936091	G	A	178936091	3	1	496	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	6304625	178936091	19086339	60	96231											
EIF4G1	1981	broad.mit.edu	37	chr3	184049859	184049859	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggcccttgtagtgaccTtagaacagcctcccagtaag	10	9	9	13	0	0	2	0	1	0	1	2	2	2	2	5	1	2	2	5	1	4	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184049859T>G	ENST00000342981.4	+	31	5020	c.4606T>G	c.(4606-4608)Tta>Gta	p.L1536V	EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1535V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1448V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1372V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1339V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1542V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1535V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1542V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1496V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1340V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1449V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1495V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1371V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1542V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1535	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTAGTGACCTTAGAACAGCC	0.582													17	85					0	0	0	0	G	184049859	T	G	184049859	3	3	496	1	0	0	0	0	1	0	0	0	5074	1606	56	5	4721	5	EIF4G1	3	184049859	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	5113768	184049859	13972571	61	96232											
CHRD	8646	broad.mit.edu	37	chr3	184105822	184105822	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgcaaacagtgtccagGtgagagaggtggctgagcac	10	7	15	9	0	0	3	0	2	0	1	1	4	1	3	1	3	4	4	1	3	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184105822G>C	ENST00000204604.1	+	20	2800		c.e20+1		CHRD_ENST00000450923.1_Splice_Site|CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000348986.3_Splice_Site|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGTGTCCAGGTGAGAGAGGT	0.592													5	18					0	0	0	0	C	184105822	G	C	184105822	5	2	496	1	0	0	0	0	0	0	1	0	3401	1275	44	4	2633	4	CHRD	3	184105822	Splice_Site	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	55963	184105822	13916608	62	96233											
VPS8	23355	broad.mit.edu	37	chr3	184648306	184648306	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatccattcccggacacAgtgcagaggagaagcagtct	11	9	10	11	1	2	2	0	0	2	2	4	4	4	3	2	2	2	2	2	2	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184648306A>T	ENST00000287546.4	+	33	3019	c.2848A>T	c.(2848-2850)Agt>Tgt	p.S950C	VPS8_ENST00000446204.2_Missense_Mutation_p.S858C|VPS8_ENST00000437079.3_Missense_Mutation_p.S950C|VPS8_ENST00000436792.2_Missense_Mutation_p.S948C|VPS8_ENST00000463687.1_3'UTR	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	950							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCCCGGACACAGTGCAGAGGA	0.388													7	144					0	0	0	0	T	184648306	A	T	184648306	3	4	496	1	0	0	0	0	1	0	0	0	17314	188	7	5	2974	5	VPS8	3	184648306	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	542484	184648306	13374124	63	96234											
PPP1R2	5504	broad.mit.edu	37	chr3	195245854	195245854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatgctttctccatctgCagtctctaacatttcttcat	8	18	3	12	0	6	0	2	0	4	0	8	0	6	0	1	0	3	2	1	0	1	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:195245854C>T	ENST00000328432.3	-	5	892	c.532G>A	c.(532-534)Gca>Aca	p.A178T		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	178					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TCTCCATCTGCAGTCTCTAAC	0.363													56	179					0	0	0	0	T	195245854	C	T	195245854	3	4	496	1	0	0	0	0	1	0	0	0	12446	710	25	4	93	4	PPP1R2	3	195245854	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	10597548	195245854	2776576	64	96235											
ZNF721	170960	broad.mit.edu	37	chr4	435806	435806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttgtggaactagtaaacGctttaccacattctaaacat	13	12	8	8	1	1	0	0	0	1	0	1	1	1	1	1	2	4	3	1	2	7	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:435806G>A	ENST00000338977.5	-	2	2462	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.A817V|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACTAGTAAACGCTTTACCACA	0.393													29	55					0	0	0	0	A	435806	G	A	435806	3	1	496	1	0	0	0	0	1	0	0	0	18217	1087	38	1	325	1	ZNF721	4	435806	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		435806	190718470	65	96236											
EPHA5	2044	broad.mit.edu	37	chr4	66467457	66467457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcagtgcattttgggaGgttcatcggtcacagaatgg	8	11	14	8	2	2	1	2	0	0	1	3	2	2	2	0	4	2	4	0	4	1	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:66467457G>A	ENST00000273854.3	-	3	1412	c.812C>T	c.(811-813)cCt>cTt	p.P271L	EPHA5_ENST00000354839.4_Missense_Mutation_p.P271L|EPHA5_ENST00000511294.1_Missense_Mutation_p.P271L|EPHA5_ENST00000432638.2_Missense_Mutation_p.P271L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	271	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATTTTGGGAGGTTCATCGGT	0.532										TSP Lung(17;0.13)			26	67					0	0	0	0	A	66467457	G	A	66467457	3	1	496	1	0	0	0	0	1	0	0	0	5208	1000	35	4	2365	4	EPHA5	4	66467457	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	66031651	66467457	124686819	66	96237											
HTN1	3346	broad.mit.edu	37	chr4	70920042	70920042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctttttttccaagagcGctgattcacatgaaaaggta	11	16	7	7	1	2	3	1	2	1	1	3	3	3	3	1	1	1	2	1	1	4	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:70920042G>A	ENST00000511674.1	+	3	126	c.55G>A	c.(55-57)Gct>Act	p.A19T	HTN1_ENST00000246896.3_Missense_Mutation_p.A19T			P15515	HIS1_HUMAN	histatin 1	19					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.A19T(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						TTCCAAGAGCGCTGATTCACA	0.229													25	99					0	0	0	0	A	70920042	G	A	70920042	3	1	496	1	0	0	0	0	1	0	0	0	7487	1087	38	1	61	1	HTN1	4	70920042	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4452585	70920042	120234234	67	96238											
SLC4A4	8671	broad.mit.edu	37	chr4	72319325	72319325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctcttcatttatctggCaactgtaactaatgctatca	12	16	4	9	0	4	0	2	0	2	0	5	0	4	0	0	1	3	3	0	1	6	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:72319325C>T	ENST00000340595.3	+	9	1500	c.1304C>T	c.(1303-1305)gCa>gTa	p.A435V	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A479V|SLC4A4_ENST00000264485.5_Missense_Mutation_p.A479V|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A435V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A479V	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	479						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATTTATCTGGCAACTGTAACT	0.403													43	197					0	0	0	0	T	72319325	C	T	72319325	3	4	496	1	0	0	0	0	1	0	0	0	14744	710	25	4	1599	4	SLC4A4	4	72319325	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1399283	72319325	118834951	68	96239											
FRAS1	80144	broad.mit.edu	37	chr4	79434693	79434693	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagttaccacctatgacctGagaggcatctcaggtgagat	11	11	10	9	0	1	3	1	3	1	2	2	5	1	3	3	2	1	2	3	2	3	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:79434693G>C	ENST00000264895.6	+	65	10601	c.10161G>C	c.(10159-10161)ctG>ctC	p.L3387L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3382					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTATGACCTGAGAGGCATCT	0.468													40	130					0	0	0	0	C	79434693	G	C	79434693	2	2	496	1	0	0	0	0	0	0	0	1	6089	1277	45	2		2	FRAS1	4	79434693	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	7115368	79434693	111719583	69	96240											
SPATA5	166378	broad.mit.edu	37	chr4	123857283	123857283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagactgaagcaaagttaCgtcagatatttgctgaagcc	13	10	11	7	1	1	4	1	3	0	2	1	5	1	4	1	0	4	3	1	0	5	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:123857283C>T	ENST00000274008.3	+	7	1375	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	436					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGCAAAGTTACGTCAGATATT	0.308													7	230					0	0	0	0	T	123857283	C	T	123857283	3	4	496	1	0	0	0	0	1	0	0	0	15101	536	19	1	1332	1	SPATA5	4	123857283	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	44422590	123857283	67296993	70	96241											
ELF2	1998	broad.mit.edu	37	chr4	139993125	139993125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactacagtttctgtaaTgacatctggcctcatagcag	10	12	7	12	0	3	1	1	1	2	0	4	1	4	1	2	1	2	3	2	1	3	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:139993125T>A	ENST00000394235.2	-	6	887	c.385A>T	c.(385-387)Att>Ttt	p.I129F	ELF2_ENST00000379549.2_Missense_Mutation_p.I81F|ELF2_ENST00000510408.1_Missense_Mutation_p.I69F|ELF2_ENST00000265495.4_Missense_Mutation_p.I129F|ELF2_ENST00000358635.3_Missense_Mutation_p.I81F|ELF2_ENST00000379550.1_Missense_Mutation_p.I141F	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	141					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTTTCTGTAATGACATCTGGC	0.388													7	144					0	0	0	0	A	139993125	T	A	139993125	3	1	496	1	0	0	0	0	1	0	0	0	5092	1464	51	5	1380	5	ELF2	4	139993125	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	16135842	139993125	51161151	71	96242											
FBXW7	55294	broad.mit.edu	37	chr4	153247165	153247165	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagagatcttacctgtaatGaatagactctattagtatgc	14	14	7	6	0	2	3	0	1	2	2	2	4	2	3	1	0	2	2	1	0	8	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:153247165G>C	ENST00000281708.4	-	10	2866	c.1637C>G	c.(1636-1638)tCa>tGa	p.S546*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S428*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S370*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S466*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	546					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGTAATGAATAGACTCT	0.398			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								42	69					0	0	0	0	C	153247165	G	C	153247165	4	2	496	1	0	0	0	0	0	1	0	0	5814	1294	45	2	498	2	FBXW7	4	153247165	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	13254040	153247165	37907111	72	96243											
DCHS2	54798	broad.mit.edu	37	chr4	155157458	155157458	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatggtagaggaaataggCagattttctggaacaataca	16	10	10	5	0	1	2	0	0	1	2	1	4	1	4	0	4	2	2	0	4	7	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155157458C>A	ENST00000357232.3	-	25	6980	c.6981G>T	c.(6979-6981)ctG>ctT	p.L2327L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2327	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGAAATAGGCAGATTTTCTG	0.398													38	89					6.19805e-25	7.61662e-25	1	0	A	155157458	C	A	155157458	2	1	496	1	0	0	0	0	0	0	0	1	4320	697	25	4		4	DCHS2	4	155157458	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1910293	155157458	35996818	73	96244											
DCHS2	54798	broad.mit.edu	37	chr4	155157664	155157664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagtgttttcttctaagtAaaaatgtcccttctcatttc	9	18	4	10	0	3	0	1	0	3	0	7	0	5	0	2	0	0	2	2	0	4	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155157664A>G	ENST00000357232.3	-	25	6774	c.6775T>C	c.(6775-6777)Tac>Cac	p.Y2259H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2259	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTTCTAAGTAAAAATGTCCC	0.383													7	115					0	0	0	0	G	155157664	A	G	155157664	3	3	496	1	0	0	0	0	1	0	0	0	4320	362	13	5	1979	5	DCHS2	4	155157664	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	206	155157664	35996612	74	96245											
FGA	2243	broad.mit.edu	37	chr4	155507937	155507937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagtgttgcctatctctaGagggaagtaagtctttggca	10	13	12	6	0	2	1	0	0	2	1	3	2	2	2	1	2	1	4	1	2	5	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155507937G>A	ENST00000302053.3	-	5	722	c.644C>T	c.(643-645)tCt>tTt	p.S215F	FGA_ENST00000403106.3_Missense_Mutation_p.S215F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	215				SR -> RS (in Ref. 9; AA sequence).	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTATCTCTAGAGGGAAGTAA	0.458													11	129					0	0	0	0	A	155507937	G	A	155507937	3	1	496	1	0	0	0	0	1	0	0	0	5875	942	33	2	2008	2	FGA	4	155507937	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	350273	155507937	35646339	75	96246											
FAT1	2195	broad.mit.edu	37	chr4	187628173	187628173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttctggaagatcctctcGgactttcacacgataattag	10	13	7	11	2	3	1	1	0	2	1	6	4	5	3	2	2	0	0	2	2	3	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:187628173G>A	ENST00000441802.2	-	2	3018	c.2809C>T	c.(2809-2811)Cga>Tga	p.R937*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	937	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGATCCTCTCGGACTTTCACA	0.468										HNSCC(5;0.00058)			44	307					0	0	0	0	A	187628173	G	A	187628173	4	1	496	1	0	0	0	0	0	1	0	0	5734	1124	39	1	11061	1	FAT1	4	187628173	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	32120236	187628173	3526103	76	96247											
HCN1	348980	broad.mit.edu	37	chr5	45267355	45267355	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtcagcaggcaaatcTctataaaaacaaacaacaaa	19	8	5	9	0	2	0	1	0	1	0	3	0	2	0	0	2	4	2	0	2	8	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:45267355T>A	ENST00000303230.4	-	7	1676	c.1618_splice	c.e7-1	p.E540_splice		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	540						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGCAAATCTCTATAAAAAC	0.393													10	90					0	0	0	0	A	45267355	T	A	45267355	5	1	496	1	0	0	0	0	0	0	1	0	7046	1565	54	5	1061	5	HCN1	5	45267355	Splice_Site	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08		45267355	135647905	77	96248											
CD180	4064	broad.mit.edu	37	chr5	66492458	66492458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaaaagaagcagctgacGtcaaacgccatcacaggcta	16	4	8	13	2	2	2	2	1	0	1	2	2	2	2	2	1	3	3	2	1	5	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:66492458G>A	ENST00000256447.4	-	1	169	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	4					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGCAGCTGACGTCAAACGCCA	0.493													11	139					0	0	0	0	A	66492458	G	A	66492458	2	1	496	1	0	0	0	0	0	0	0	1	3001	1136	40	1		1	CD180	5	66492458	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	21225103	66492458	114422802	78	96249											
SRFBP1	153443	broad.mit.edu	37	chr5	121356179	121356179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctctggtaacagtgatggcgGagaagaattttgtgaagagg	12	10	15	4	1	1	5	0	2	1	3	1	6	1	5	0	4	1	1	0	4	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:121356179G>C	ENST00000339397.4	+	6	821	c.749G>C	c.(748-750)gGa>gCa	p.G250A		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AGTGATGGCGGAGAAGAATTT	0.413													47	97					0	0	0	0	C	121356179	G	C	121356179	3	2	496	1	0	0	0	0	1	0	0	0	15234	1174	41	2	771	2	SRFBP1	5	121356179	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	54863721	121356179	59559081	79	96250											
MARCH3	115123	broad.mit.edu	37	chr5	126250792	126250792	+	Frame_Shift_Del	DEL	G	G	-																															ctcttggctgctgccctcgtGgcagatcctgcacatcggcc																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:126250792delG	ENST00000308660.5	-	3	737	c.223delC	c.(223-225)acfs	p.H75fs	MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Frame_Shift_Del_p.H75fs	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	75					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CTGCCCTCGTGGCAGATCCTG	0.597													8	26	---	---	---	---					-	126250792	G	-	126250792	7	5	496	1	0	1	0	1	0	0	0	0	9371	1348	47	0	550	0	MARCH3	5	126250792	Frame_Shift_Del	DEL	G	TCGA-UF-A7J9-01A-12D-A34J-08	4894613	126250792	54664468	80	96251											
PCDHA1	56147	broad.mit.edu	37	chr5	140167021	140167021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtgactcaggtgccaaCgggcaggtgacttgctcctt	7	9	13	12	2	1	2	1	2	0	0	2	3	2	2	3	3	3	2	3	3	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140167021C>T	ENST00000504120.2	+	1	1146	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	PCDHA1_ENST00000378133.3_Silent_p.N382N|PCDHA1_ENST00000394633.3_Silent_p.N382N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGCCAACGGGCAGGTGA	0.562													51	95					0	0	0	0	T	140167021	C	T	140167021	2	4	496	1	0	0	0	0	0	0	0	1	11590	535	19	1		1	PCDHA1	5	140167021	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	13916229	140167021	40748239	81	96252											
PCDHB5	26167	broad.mit.edu	37	chr5	140516046	140516046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatgtgaatgacaacgccCctgaactcaccatgtctacg	11	9	9	12	2	2	3	1	3	1	0	2	4	2	4	3	1	3	0	3	1	4	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140516046C>G	ENST00000231134.5	+	1	1247	c.1030C>G	c.(1030-1032)Cct>Gct	p.P344A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAACGCCCCTGAACTCAC	0.498													6	153					0	0	0	0	G	140516046	C	G	140516046	3	3	496	1	0	0	0	0	1	0	0	0	11616	623	22	4	1032	4	PCDHB5	5	140516046	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	349025	140516046	40399214	82	96253											
PCDHGB1	56104	broad.mit.edu	37	chr5	140732209	140732209	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgaagatcacaaaatCgcttatgacccttctttgtc	13	13	6	9	1	2	3	1	2	1	1	4	3	2	3	1	0	0	2	1	0	5	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140732209C>A	ENST00000523390.1	+	1	2382	c.2382C>A	c.(2380-2382)atC>atA	p.I794I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACAAAATCGCTTATGACC	0.468													9	9					5.4927e-09	6.02816e-09	1	0	A	140732209	C	A	140732209	2	1	496	1	0	0	0	0	0	0	0	1	11633	874	31	3		3	PCDHGB1	5	140732209	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	216163	140732209	40183051	83	96254											
KCTD16	57528	broad.mit.edu	37	chr5	143853480	143853480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagatgcggcggaaaagcGacttactccggactctgact	11	7	12	11	4	1	2	0	1	1	1	2	6	2	4	1	3	3	0	1	3	3	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:143853480G>A	ENST00000507359.2	+	3	2181	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	KCTD16_ENST00000512467.1_Missense_Mutation_p.D364N	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	364						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D364Y(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GCGGAAAAGCGACTTACTCCG	0.522													30	59					0	0	0	0	A	143853480	G	A	143853480	3	1	496	1	0	0	0	0	1	0	0	0	8156	1058	37	1	1096	1	KCTD16	5	143853480	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	3121271	143853480	37061780	84	96255											
EEF1E1	9521	broad.mit.edu	37	chr6	8102739	8102739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctccagtagcgacaactCtgcggccgccgccatcttcc	6	9	8	18	4	3	0	0	0	3	0	5	1	4	0	5	1	3	1	5	1	2	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:8102739C>G	ENST00000379715.5	-	1	72	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000429723.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000507463.1_Missense_Mutation_p.E6Q	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	6					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					AGCGACAACTCTGCGGCCGCC	0.602													7	65					0	0	0	0	G	8102739	C	G	8102739	3	3	496	1	0	0	0	0	1	0	0	0	4963	922	32	2	564	2	EEF1E1	6	8102739	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08		8102739	163012328	85	96256											
ZNF391	346157	broad.mit.edu	37	chr6	27368981	27368981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactggggagaacccctatGagtgcagtgaatgtgggaaa	13	7	14	7	0	0	3	0	2	0	1	0	5	0	4	2	3	2	1	2	3	4	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:27368981G>A	ENST00000244576.4	+	3	1377	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAACCCCTATGAGTGCAGTGA	0.463													9	41					0	0	0	0	A	27368981	G	A	27368981	3	1	496	1	0	0	0	0	1	0	0	0	17974	1291	45	2	834	2	ZNF391	6	27368981	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	19266242	27368981	143746086	86	96257											
GNL1	2794	broad.mit.edu	37	chr6	30521326	30521326	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcataaagtgctggcgggaaAttcacaacctaggacagagt	14	8	11	8	1	2	1	2	0	0	1	2	3	2	3	1	3	2	1	1	3	5	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:30521326A>G	ENST00000376621.3	-	6	1579	c.609T>C	c.(607-609)aaT>aaC	p.N203N		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	203					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGCGGGAAATTCACAACCT	0.532													7	78					0	0	0	0	G	30521326	A	G	30521326	2	3	496	1	0	0	0	0	0	0	0	1	6586	98	4	5		5	GNL1	6	30521326	Silent	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	3152345	30521326	140593741	87	96258											
TRERF1	55809	broad.mit.edu	37	chr6	42225914	42225914	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggccctggggtgacCgtcacgttgctgccatcgat	5	10	12	14	3	2	1	1	1	1	0	4	2	2	1	4	3	2	2	4	3	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:42225914C>A	ENST00000541110.1	-	10	2923	c.2355G>T	c.(2353-2355)acG>acT	p.T785T	TRERF1_ENST00000354325.2_Silent_p.T682T|TRERF1_ENST00000372922.4_Silent_p.T765T|TRERF1_ENST00000372917.4_Silent_p.T682T|TRERF1_ENST00000340840.2_Silent_p.T682T			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	765	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGGTGACCGTCACGTTGC	0.433													6	57					0.00198382	0.00204234	1	0	A	42225914	C	A	42225914	2	1	496	1	0	0	0	0	0	0	0	1	16570	639	23	3		3	TRERF1	6	42225914	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	11704588	42225914	128889153	88	96259											
CD2AP	23607	broad.mit.edu	37	chr6	47544293	47544295	+	In_Frame_Del	DEL	CAG	CAG	-																															agtcactgggacccaaaactCagagtgtggagataacaaaa																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:47544293_47544295delCAG	ENST00000359314.5	+	7	1219_1221	c.763_765delCAG	c.(763-765)del	p.Q255del		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	255					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACCCAAAACTCAGAGTGTGGAGA	0.3													28	201	---	---	---	---					-	47544295	CAG	-	47544293	7	5	496	1	0	1	0	1	0	0	0	0	3023	827	29	0	789	0	CD2AP	6	47544293	In_Frame_Del	DEL	CAG	TCGA-UF-A7J9-01A-12D-A34J-08	5318379	47544293	123570774	89	96260											
DST	667	broad.mit.edu	37	chr6	56479213	56479213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctttcaatgtcttgctgaTatttgatacccatttttgca	9	19	5	8	0	3	2	1	2	2	0	3	2	3	2	1	0	3	2	1	0	3	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:56479213T>C	ENST00000370754.5	-	36	4899	c.4900A>G	c.(4900-4902)Atc>Gtc	p.I1634V	DST_ENST00000312431.6_Missense_Mutation_p.I1456V|DST_ENST00000244364.6_Missense_Mutation_p.I1130V|DST_ENST00000361203.3_Missense_Mutation_p.I1456V|DST_ENST00000370769.4_Missense_Mutation_p.I1456V|DST_ENST00000421834.2_Missense_Mutation_p.I1456V|DST_ENST00000446842.2_Missense_Mutation_p.I1130V|DST_ENST00000370788.2_Missense_Mutation_p.I1456V			Q03001	DYST_HUMAN	dystonin	1456					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCTTGCTGATATTTGATACC	0.353													23	57					0	0	0	0	C	56479213	T	C	56479213	3	2	496	1	0	0	0	0	1	0	0	0	4819	1406	49	5	12375	5	DST	6	56479213	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	8934920	56479213	114635854	90	96261											
IMPG1	3617	broad.mit.edu	37	chr6	76728458	76728458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgggactttcctgctaGctcctggtaatatggggact	8	13	12	8	0	0	0	0	0	0	0	2	2	2	2	2	4	2	4	2	4	4	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:76728458G>C	ENST00000369950.3	-	7	973	c.784C>G	c.(784-786)Cta>Gta	p.L262V	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	262	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTTCCTGCTAGCTCCTGGTAA	0.552													10	144					0	0	0	0	C	76728458	G	C	76728458	3	2	496	1	0	0	0	0	1	0	0	0	7781	962	34	4	1653	4	IMPG1	6	76728458	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	20249245	76728458	94386609	91	96262											
GJA10	84694	broad.mit.edu	37	chr6	90605716	90605716	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttctttcttcctggggTgtgtatgtatgtttgtgttg	2	22	11	6	0	2	0	0	0	2	0	4	0	4	0	2	2	0	4	2	2	2	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:90605716T>C	ENST00000369352.1	+	1	1529	c.1529T>C	c.(1528-1530)gTg>gCg	p.V510A		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	510					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTCCTGGGGTGTGTATGTAT	0.393													5	54					0	0	0	0	C	90605716	T	C	90605716	3	2	496	1	0	0	0	0	1	0	0	0	6452	1696	59	5	1531	5	GJA10	6	90605716	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	13877258	90605716	80509351	92	96263											
EPHA7	2045	broad.mit.edu	37	chr6	94120867	94120867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tatcggggtatagttctcatCcaaaccactaatttcttccc	10	14	5	12	1	2	0	1	0	2	0	6	0	4	0	3	2	1	2	3	2	5	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:94120867C>G	ENST00000369303.4	-	3	368	c.184G>C	c.(184-186)Gat>Cat	p.D62H	EPHA7_ENST00000369297.1_Missense_Mutation_p.D62H	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	62						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAGTTCTCATCCAAACCACTA	0.403													13	101					0	0	0	0	G	94120867	C	G	94120867	3	3	496	1	0	0	0	0	1	0	0	0	5210	855	30	2	2872	2	EPHA7	6	94120867	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	3515151	94120867	76994200	93	96264											
ASCC3	10973	broad.mit.edu	37	chr6	101307046	101307046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcatcctcctcttttccatCcagcctcctcttctggaatg	5	15	4	17	0	4	0	1	0	3	0	9	1	9	1	6	1	1	0	6	1	1	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:101307046C>T	ENST00000369143.2	-	4	565	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ASCC3_ENST00000522650.1_Intron|ASCC3_ENST00000369162.2_Intron	NM_022091.3	NP_071374.1	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		tcttttccatccagcctcctc	0.408													24	60					0	0	0	0	T	101307046	C	T	101307046	3	4	496	1	0	0	0	0	1	0	0	0	1037	855	30	2	6589	2	ASCC3	6	101307046	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	7186179	101307046	69808021	94	96265											
REV3L	5980	broad.mit.edu	37	chr6	111696917	111696917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcaaaagctccacgagTggttttagttaaatcactag	13	14	7	7	1	2	0	2	0	0	0	3	1	3	0	1	1	1	3	1	1	6	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:111696917T>C	ENST00000435970.1	-	15	3223	c.2407A>G	c.(2407-2409)Act>Gct	p.T803A	REV3L_ENST00000368802.3_Missense_Mutation_p.T881A|REV3L_ENST00000358835.3_Missense_Mutation_p.T881A|REV3L_ENST00000368805.1_Missense_Mutation_p.T881A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	881					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCTCCACGAGTGGTTTTAGTT	0.358								DNA polymerases (catalytic subunits)					21	138					0	0	0	0	C	111696917	T	C	111696917	3	2	496	1	0	0	0	0	1	0	0	0	13322	1696	59	5	6831	5	REV3L	6	111696917	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	10389871	111696917	59418150	95	96266											
LAMA4	3910	broad.mit.edu	37	chr6	112471791	112471791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttccttgctagggctccacCcacacgcctgctagtgtcag	6	11	9	15	1	1	0	1	0	0	0	3	0	3	0	4	1	2	3	4	1	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:112471791C>T	ENST00000230538.7	-	17	2492	c.2095G>A	c.(2095-2097)Ggt>Agt	p.G699S	LAMA4_ENST00000424408.2_Missense_Mutation_p.G692S|LAMA4_ENST00000389463.4_Missense_Mutation_p.G692S|LAMA4_ENST00000522006.1_Missense_Mutation_p.G692S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	699	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGGGCTCCACCCACACGCCTG	0.493													20	126					0	0	0	0	T	112471791	C	T	112471791	3	4	496	1	0	0	0	0	1	0	0	0	8661	623	22	4	3468	4	LAMA4	6	112471791	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	774874	112471791	58643276	96	96267											
BCLAF1	9774	broad.mit.edu	37	chr6	136599312	136599312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaagatgaactctgactaGgtggtgtagcaataggtgaa	14	9	13	5	0	1	4	0	3	1	1	1	4	1	4	0	3	3	3	0	3	7	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:136599312G>A	ENST00000531224.1	-	4	959	c.707C>T	c.(706-708)cCt>cTt	p.P236L	BCLAF1_ENST00000527759.1_Missense_Mutation_p.P234L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P234L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P234L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P236L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	236					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTCTGACTAGGTGGTGTAGC	0.443													26	158					0	0	0	0	A	136599312	G	A	136599312	3	1	496	1	0	0	0	0	1	0	0	0	1387	1000	35	4	2095	4	BCLAF1	6	136599312	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	24127521	136599312	34515755	97	96268											
PHACTR2	9749	broad.mit.edu	37	chr6	144033316	144033316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatttagagaaacctcGgcaggtatgagtatcataac	16	9	9	7	1	1	2	1	1	0	1	2	4	1	2	1	2	2	3	1	2	6	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:144033316G>A	ENST00000427704.2	+	2	307	c.177G>A	c.(175-177)tcG>tcA	p.S59S	PHACTR2_ENST00000440869.2_Silent_p.S70S|PHACTR2_ENST00000305766.6_Silent_p.S59S|PHACTR2_ENST00000367582.3_Silent_p.S70S|PHACTR2_ENST00000367584.4_Silent_p.S127S|PHACTR2_ENST00000397980.3_Silent_p.S70S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	59							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAGAAACCTCGGCAGGTATGA	0.348													25	66					0	0	0	0	A	144033316	G	A	144033316	2	1	496	1	0	0	0	0	0	0	0	1	11882	1103	39	1		1	PHACTR2	6	144033316	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	7434004	144033316	27081751	98	96269											
ZBTB2	57621	broad.mit.edu	37	chr6	151687228	151687228	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatcgatgatgggagaatCagagatgtgctgcagctcac	11	8	12	10	1	2	3	2	1	0	2	3	6	2	3	1	1	3	3	1	1	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:151687228C>G	ENST00000325144.4	-	3	1113	c.973G>C	c.(973-975)Gat>Cat	p.D325H		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ATGGGAGAATCAGAGATGTGC	0.572													11	110					0	0	0	0	G	151687228	C	G	151687228	3	3	496	1	0	0	0	0	1	0	0	0	17623	826	29	2	575	2	ZBTB2	6	151687228	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	7653912	151687228	19427839	99	96270											
PLG	5340	broad.mit.edu	37	chr6	161159610	161159610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcaccttgatatccccaGagtgggtgttgactgctgcc	7	10	13	11	0	0	3	0	2	0	1	1	4	1	3	4	2	2	3	4	2	1	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:161159610G>C	ENST00000308192.9	+	15	1906	c.1843G>C	c.(1843-1845)Gag>Cag	p.E615Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	615	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GATATCCCCAGAGTGGGTGTT	0.408													24	102					0	0	0	0	C	161159610	G	C	161159610	3	2	496	1	0	0	0	0	1	0	0	0	12158	943	33	2	1905	2	PLG	6	161159610	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	9472382	161159610	9955457	100	96271											
WDR27	253769	broad.mit.edu	37	chr6	170033070	170033070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcagatttgatggacaggCcgtgagtgggcttccgctat	7	11	15	8	2	0	3	0	2	0	1	1	4	1	4	2	4	0	3	2	4	1	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:170033070C>T	ENST00000333572.6	-	21	2715	c.2196G>A	c.(2194-2196)cgG>cgA	p.R732R	WDR27_ENST00000448612.1_Silent_p.R732R|WDR27_ENST00000423258.1_Silent_p.R605R|WDR27_ENST00000546525.1_5'UTR			A2RRH5	WDR27_HUMAN	WD repeat domain 27	702										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GATGGACAGGCCGTGAGTGGG	0.468													4	36					0	0	0	0	T	170033070	C	T	170033070	2	4	496	1	0	0	0	0	0	0	0	1	17380	726	26	4		4	WDR27	6	170033070	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	8873460	170033070	1081997	101	96272											
EIF2AK1	27102	broad.mit.edu	37	chr7	6080816	6080816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagataatggatgagcTgctactttcatcatttttaa	14	14	7	6	0	2	2	2	1	0	1	2	3	2	3	0	1	4	3	0	1	4	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:6080816T>A	ENST00000199389.6	-	9	972	c.826A>T	c.(826-828)Agc>Tgc	p.S276C	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.S152C|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	276	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ATGGATGAGCTGCTACTTTCA	0.393													33	117					0	0	0	0	A	6080816	T	A	6080816	3	1	496	1	0	0	0	0	1	0	0	0	5032	1580	55	5	1094	5	EIF2AK1	7	6080816	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08		6080816	153057847	102	96273											
TWISTNB	221830	broad.mit.edu	37	chr7	19748631	19748631	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcgcctctgagcaaccTgcagccatgctgcttgtcaa	7	8	11	15	3	2	1	1	1	1	0	2	1	2	1	3	1	6	4	3	1	2	1	rs145791338	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:19748631T>A	ENST00000222567.5	-	1	79	c.9A>T	c.(7-9)gcA>gcT	p.A3A		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	3						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGAGCAACCTGCAGCCATGC	0.647											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	47					0	0	0	0	A	19748631	T	A	19748631	2	1	496	1	0	0	0	0	0	0	0	1	16880	1567	55	5		5	TWISTNB	7	19748631	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	13667815	19748631	139390032	103	96274											
ABCA13	154664	broad.mit.edu	37	chr7	48312992	48312992	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttaggtaatgcattagtTtcagtaaaaaaacttaactt	15	15	6	5	0	1	0	1	0	0	0	1	0	1	0	0	1	3	5	0	1	8	8			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:48312992T>G	ENST00000435803.1	+	17	3753	c.3729T>G	c.(3727-3729)gtT>gtG	p.V1243V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1243					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGCATTAGTTTCAGTAAAAA	0.373													21	40					0	0	0	0	G	48312992	T	G	48312992	2	3	496	1	0	0	0	0	0	0	0	1	31	1828	64	5		5	ABCA13	7	48312992	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	28564361	48312992	110825671	104	96275											
POM121L12	285877	broad.mit.edu	37	chr7	53103832	53103832	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggagatcccctggacaGagagcccgccccgcaggccg	7	3	13	18	3	0	2	0	0	0	2	1	5	1	3	7	3	1	1	7	3	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:53103832G>A	ENST00000408890.4	+	1	484	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	156										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCTGGACAGAGAgcccgcc	0.731													8	41					0	0	0	0	A	53103832	G	A	53103832	2	1	496	1	0	0	0	0	0	0	0	1	12313	933	33	2		2	POM121L12	7	53103832	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4790840	53103832	106034831	105	96276											
ZNF679	168417	broad.mit.edu	37	chr7	63726351	63726351	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaaaagtaataccaagaAgatatggaaaaagtggacat	21	7	8	5	0	0	2	0	0	0	2	1	4	1	4	2	2	1	1	2	2	9	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:63726351A>C	ENST00000421025.1	+	5	609	c.340A>C	c.(340-342)Aga>Cga	p.R114R	ZNF679_ENST00000255746.4_Silent_p.R114R	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATACCAAGAAGATATGGAAA	0.368													12	45					0	0	0	0	C	63726351	A	C	63726351	2	2	496	1	0	0	0	0	0	0	0	1	18181	64	3	5		5	ZNF679	7	63726351	Silent	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	10622519	63726351	95412312	106	96277											
CACNA2D1	781	broad.mit.edu	37	chr7	81746389	81746389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcagtaggaatatggActgctgcgtgctgataagat	12	11	13	5	1	1	3	1	1	0	2	1	5	1	5	0	2	3	3	0	2	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:81746389A>G	ENST00000356860.3	-	6	835	c.497T>C	c.(496-498)gTc>gCc	p.V166A	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.V166A|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.V166A	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	166						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGGAATATGGACTGCTGCGTG	0.418													22	126					0	0	0	0	G	81746389	A	G	81746389	3	3	496	1	0	0	0	0	1	0	0	0	2573	275	10	5	2914	5	CACNA2D1	7	81746389	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	18020038	81746389	77392274	107	96278											
PCLO	27445	broad.mit.edu	37	chr7	82763692	82763692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagttttgcagagaggacaGgttgattctggtttgggcga	8	13	15	5	1	2	2	1	1	1	1	2	5	2	3	0	4	1	4	0	4	0	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:82763692G>A	ENST00000423517.2	-	3	3511	c.3174C>T	c.(3172-3174)acC>acT	p.T1058T	PCLO_ENST00000333891.8_Silent_p.T1058T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1004					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGAGGACAGGTTGATTCTG	0.423													5	27					0	0	0	0	A	82763692	G	A	82763692	2	1	496	1	0	0	0	0	0	0	0	1	11654	987	35	4		4	PCLO	7	82763692	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1017303	82763692	76374971	108	96279											
ABCB4	5244	broad.mit.edu	37	chr7	87079403	87079403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgtcactaaatgccgaGagtatctggacagaaaagaa	15	10	9	7	1	3	3	1	0	2	3	3	5	3	4	1	1	1	1	1	1	6	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:87079403G>A	ENST00000265723.4	-	8	825	c.714C>T	c.(712-714)ctC>ctT	p.L238L	ABCB4_ENST00000359206.3_Silent_p.L238L|ABCB4_ENST00000358400.3_Silent_p.L238L|ABCB4_ENST00000545634.1_Silent_p.L238L|ABCB4_ENST00000453593.1_Silent_p.L238L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	238	ABC transmembrane type-1 1.		L -> V (in dbSNP:rs45596335).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TAAATGCCGAGAGTATCTGGA	0.478													34	125					0	0	0	0	A	87079403	G	A	87079403	2	1	496	1	0	0	0	0	0	0	0	1	43	929	33	2		2	ABCB4	7	87079403	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4315711	87079403	72059260	109	96280											
ZNF804B	219578	broad.mit.edu	37	chr7	88964416	88964416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacagtcatgtttgagtaGatattcttcctctttggaca	9	16	7	9	0	3	2	1	1	2	1	5	3	5	3	2	1	0	2	2	1	2	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:88964416G>A	ENST00000333190.4	+	4	2729	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	707						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGTTTGAGTAGATATTCTTCC	0.408										HNSCC(36;0.09)			21	59					0	0	0	0	A	88964416	G	A	88964416	3	1	496	1	0	0	0	0	1	0	0	0	18264	942	33	2	2134	2	ZNF804B	7	88964416	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1885013	88964416	70174247	110	96281											
LMTK2	22853	broad.mit.edu	37	chr7	97766644	97766644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggaggcgccacctgctGcagaagtttcctcatctttt	7	11	11	12	1	2	1	1	0	1	1	3	2	3	2	3	3	2	3	3	3	1	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:97766644G>T	ENST00000297293.5	+	2	414	c.121G>T	c.(121-123)Gca>Tca	p.A41S	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	41					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCACCTGCTGCAGAAGTTTC	0.348													10	117					0.00621372	0.00635949	1	0	T	97766644	G	T	97766644	3	4	496	1	0	0	0	0	1	0	0	0	8914	1319	46	4	127	4	LMTK2	7	97766644	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	8802228	97766644	61372019	111	96282											
MUC17	140453	broad.mit.edu	37	chr7	100676291	100676291	+	Missense_Mutation	SNP	T	T	C																															gttctgaggctagcacccttTcaacaactcctgttgacacc																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:100676291T>C	ENST00000306151.4	+	3	1658	c.1594T>C	c.(1594-1596)Tca>Cca	p.S532P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	532	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCACCCTTTCAACAACTCC	0.498													190	605					0	0	0	0	C	100676291	T	C	100676291	3	2	496	1	0	0	0	0	1	0	0	0	10044	1783	62	5	1604	5	MUC17	7	100676291	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	2909647	100676291	58462372	112	96283	1148	2									
MUC17	140453	broad.mit.edu	37	chr7	100676292	100676292	+	Nonsense_Mutation	SNP	C	C	A																															ttctgaggctagcaccctttCaacaactcctgttgacacca																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:100676292C>A	ENST00000306151.4	+	3	1659	c.1595C>A	c.(1594-1596)tCa>tAa	p.S532*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	532	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCCTTTCAACAACTCCT	0.498													187	608					5.64929e-65	7.06667e-65	1	0	A	100676292	C	A	100676292	4	1	496	1	0	0	0	0	0	1	0	0	10044	838	29	2	1605	2	MUC17	7	100676292	Nonsense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1	100676292	58462371	113	96284	1148	2									
RELN	5649	broad.mit.edu	37	chr7	103191677	103191677	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtgccaggtcgccccgaAgtcccttgaaaattccagtc	10	8	10	13	2	0	1	0	1	0	0	4	2	2	1	5	2	1	0	5	2	4	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:103191677A>T	ENST00000424685.2	-	41	6298	c.6139T>A	c.(6139-6141)Ttc>Atc	p.F2047I	RELN_ENST00000343529.5_Missense_Mutation_p.F2047I|RELN_ENST00000428762.1_Missense_Mutation_p.F2047I			P78509	RELN_HUMAN	reelin	2047					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCGCCCCGAAGTCCCTTGAA	0.532													4	54					0	0	0	0	T	103191677	A	T	103191677	3	4	496	1	0	0	0	0	1	0	0	0	13302	72	3	5	4343	5	RELN	7	103191677	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	2515385	103191677	55946986	114	96285											
CADPS2	93664	broad.mit.edu	37	chr7	121960383	121960383	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcaatcgaaagtcccTgtaggttttctgaagaaaga	13	10	9	9	1	1	3	0	1	1	2	3	4	2	3	2	1	1	3	2	1	5	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:121960383T>G	ENST00000334010.7	-	28	4142	c.3721A>C	c.(3721-3723)Agg>Cgg	p.R1241R	CADPS2_ENST00000313070.7_Silent_p.R1202R|CADPS2_ENST00000449022.2_Silent_p.R1243R|CADPS2_ENST00000412584.2_Silent_p.R1202R	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1243					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CGAAAGTCCCTGTAGGTTTTC	0.393													57	170					0	0	0	0	G	121960383	T	G	121960383	2	3	496	1	0	0	0	0	0	0	0	1	2596	1579	55	5		5	CADPS2	7	121960383	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	18768706	121960383	37178280	115	96286											
CCDC136	64753	broad.mit.edu	37	chr7	128441260	128441260	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgagctgcgttctctacggGaggagatttccctgttagag	7	12	14	8	2	1	3	0	1	1	2	3	5	2	4	1	2	3	3	1	2	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:128441260G>T	ENST00000297788.4	+	4	734	c.367G>T	c.(367-369)Gag>Tag	p.E123*	CCDC136_ENST00000464832.1_Nonsense_Mutation_p.E173*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E123*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.E173*	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	123	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TTCTCTACGGGAGGAGATTTC	0.473													17	29					0.00074312	0.000771872	1	0	T	128441260	G	T	128441260	4	4	496	1	0	0	0	0	0	1	0	0	2795	1175	41	2	381	2	CCDC136	7	128441260	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	6480877	128441260	30697403	116	96287											
MGAM	8972	broad.mit.edu	37	chr7	141795424	141795424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccagaactgtcctgcaGaccagatacaccctgttgcc	10	10	7	14	0	0	3	0	0	0	3	2	3	2	3	5	0	4	2	5	0	2	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:141795424G>C	ENST00000475668.2	+	64	7572	c.7518G>C	c.(7516-7518)caG>caC	p.Q2506H	MGAM_ENST00000549489.2_Missense_Mutation_p.Q1610H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1610					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTCCTGCAGACCAGATACA	0.507													45	133					0	0	0	0	C	141795424	G	C	141795424	3	2	496	1	0	0	0	0	1	0	0	0	9610	933	33	2	4988	2	MGAM	7	141795424	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	13354164	141795424	17343239	117	96288											
NOBOX	135935	broad.mit.edu	37	chr7	144096925	144096925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattcagtttctccatttttCgccacttggcccggcgattc	5	15	7	14	3	2	0	1	0	1	0	5	1	2	0	3	2	0	1	3	2	0	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:144096925C>T	ENST00000467773.1	-	6	1078	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	NOBOX_ENST00000223140.5_Missense_Mutation_p.R243Q|NOBOX_ENST00000483238.1_Missense_Mutation_p.R328Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	360			R -> Q.		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTCCATTTTTCGCCACTTGGC	0.527													9	15					0	0	0	0	T	144096925	C	T	144096925	3	4	496	1	0	0	0	0	1	0	0	0	10582	884	31	1	1016	1	NOBOX	7	144096925	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	2301501	144096925	15041738	118	96289											
TPK1	27010	broad.mit.edu	37	chr7	144463007	144463007	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgaaaatagttgtccaaAggctgattaagaattacaag	17	10	9	5	1	0	3	0	2	0	1	1	4	1	3	1	1	1	2	1	1	8	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:144463007A>T	ENST00000360057.3	-	3	183	c.81T>A	c.(79-81)ccT>ccA	p.P27P	TPK1_ENST00000378099.3_Silent_p.P27P	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	27					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AGTTGTCCAAAGGCTGATTAA	0.318													21	86					0	0	0	0	T	144463007	A	T	144463007	2	4	496	1	0	0	0	0	0	0	0	1	16499	59	3	5		5	TPK1	7	144463007	Silent	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	366082	144463007	14675656	119	96290											
DPP6	1804	broad.mit.edu	37	chr7	154379500	154379500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtctcttcctcttcactgCctgcgtgactatgtctcggc	4	15	8	14	2	4	1	1	1	3	0	7	1	5	1	2	1	2	0	2	1	1	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:154379500C>G	ENST00000406326.1	+	6	1171	c.768C>G	c.(766-768)tgC>tgG	p.C256W	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	367					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCTTCACTGCCTGCGTGACT	0.493													7	18					0	0	0	0	G	154379500	C	G	154379500	3	3	496	1	0	0	0	0	1	0	0	0	4766	754	26	4		4	DPP6	7	154379500	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	9916493	154379500	4759163	120	96291											
BMP1	649	broad.mit.edu	37	chr8	22037292	22037292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccattggccaaaggacacGgctcagcaagggggacattg	11	6	13	11	1	1	0	1	0	0	0	2	2	2	2	2	5	1	2	2	5	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:22037292G>A	ENST00000306385.5	+	7	1581	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	BMP1_ENST00000306349.8_Missense_Mutation_p.R304Q|BMP1_ENST00000397816.3_Missense_Mutation_p.R304Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.R304Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	304	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAAAGGACACGGCTCAGCAAG	0.587													23	27					0	0	0	0	A	22037292	G	A	22037292	3	1	496	1	0	0	0	0	1	0	0	0	1461	1116	39	1	937	1	BMP1	8	22037292	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		22037292	124326730	121	96292											
DPYSL2	1808	broad.mit.edu	37	chr8	26481755	26481755	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgctgtgactactctcTgcatgtggacatcagtgagt	7	13	11	10	0	2	2	1	2	1	0	4	3	3	3	1	1	3	2	1	1	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:26481755T>A	ENST00000311151.5	+	4	822	c.410T>A	c.(409-411)cTg>cAg	p.L137Q	DPYSL2_ENST00000521913.1_Missense_Mutation_p.L101Q|DPYSL2_ENST00000523027.1_Missense_Mutation_p.L101Q	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	137					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GACTACTCTCTGCATGTGGAC	0.557													18	53					0	0	0	0	A	26481755	T	A	26481755	3	1	496	1	0	0	0	0	1	0	0	0	4783	1580	55	5	424	5	DPYSL2	8	26481755	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	4444463	26481755	119882267	122	96293											
EXTL3	2137	broad.mit.edu	37	chr8	28573738	28573738	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactattacctcaccactctGgatgaggctgatgaggcagg	10	9	11	11	0	2	3	1	3	1	0	2	4	2	4	2	4	1	2	2	4	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:28573738G>T	ENST00000220562.4	+	3	1064	c.162G>T	c.(160-162)ctG>ctT	p.L54L	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	54						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCACCACTCTGGATGAGGCTG	0.602													6	72					3.59834e-05	3.80551e-05	1	0	T	28573738	G	T	28573738	2	4	496	1	0	0	0	0	0	0	0	1	5365	1335	47	4		4	EXTL3	8	28573738	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2091983	28573738	117790284	123	96294											
SULF1	23213	broad.mit.edu	37	chr8	70514020	70514020	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatgactttgatattcgTgtgcctttttttattcgtgg	6	20	8	7	2	0	2	0	2	0	0	2	2	0	2	2	1	1	0	2	1	3	9			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:70514020T>G	ENST00000260128.4	+	10	1734	c.1017T>G	c.(1015-1017)cgT>cgG	p.R339R	SULF1_ENST00000419716.3_Silent_p.R339R|SULF1_ENST00000402687.4_Silent_p.R339R|SULF1_ENST00000458141.2_Silent_p.R339R|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	339					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGATATTCGTGTGCCTTTTT	0.418													71	270					0	0	0	0	G	70514020	T	G	70514020	2	3	496	1	0	0	0	0	0	0	0	1	15460	1683	59	5		5	SULF1	8	70514020	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	41940282	70514020	75850002	124	96295											
PRDM14	63978	broad.mit.edu	37	chr8	70980726	70980726	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctaccttctggaagttGaagggagtctttatccagag	9	12	11	9	0	2	2	0	1	2	1	3	4	3	4	3	2	2	1	3	2	4	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:70980726G>A	ENST00000276594.2	-	3	943	c.742C>T	c.(742-744)Caa>Taa	p.Q248*		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCTGGAAGTTGAAGGGAGTCT	0.408													22	74					0	0	0	0	A	70980726	G	A	70980726	4	1	496	1	0	0	0	0	0	1	0	0	12535	1299	45	2	997	2	PRDM14	8	70980726	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	466706	70980726	75383296	125	96296											
CA1	759	broad.mit.edu	37	chr8	86240821	86240821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcactgttctgcccttcaGaggttgggttgggcggttgt	3	15	14	9	1	3	1	2	0	2	1	4	1	3	1	1	4	1	4	1	4	0	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:86240821G>A	ENST00000523953.1	-	9	1800	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	CA1_ENST00000256119.5_Silent_p.L252L|CA1_ENST00000542576.1_Silent_p.L252L|CA1_ENST00000522389.1_Silent_p.L118L|CA1_ENST00000431316.1_Silent_p.L252L|CA1_ENST00000523022.1_Silent_p.L252L|CA1_ENST00000432364.2_Silent_p.L252L			P00915	CAH1_HUMAN	carbonic anhydrase I	252					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCCCTTCAGAGGTTGGGTT	0.448													31	110					0	0	0	0	A	86240821	G	A	86240821	2	1	496	1	0	0	0	0	0	0	0	1	2535	933	33	2		2	CA1	8	86240821	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	15260095	86240821	60123201	126	96297											
MMP16	4325	broad.mit.edu	37	chr8	89180150	89180150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacacatcaaaggcacggcGaatagctttacgagtctcag	13	7	9	12	3	2	0	2	0	1	0	3	2	2	0	1	2	2	2	1	2	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:89180150G>A	ENST00000286614.6	-	4	738	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	153					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AAGGCACGGCGAATAGCTTTA	0.373													13	68					0	0	0	0	A	89180150	G	A	89180150	3	1	496	1	0	0	0	0	1	0	0	0	9724	1058	37	1	1550	1	MMP16	8	89180150	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2939329	89180150	57183872	127	96298											
ZNF696	79943	broad.mit.edu	37	chr8	144378415	144378415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgagtgcggcaaggccttCggccagagcttcaacctcct	7	7	12	15	3	1	1	1	0	0	1	3	2	2	1	5	3	3	2	5	3	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:144378415C>T	ENST00000330143.3	+	3	979	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCAAGGCCTTCGGCCAGAGCT	0.711													14	28					0	0	0	0	T	144378415	C	T	144378415	2	4	496	1	0	0	0	0	0	0	0	1	18194	883	31	1		1	ZNF696	8	144378415	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	55198265	144378415	1985607	128	96299											
SCRIB	23513	broad.mit.edu	37	chr8	144886317	144886317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcccccagctcttggcaGacggatctcctggggattta	7	9	13	12	1	2	1	0	0	2	1	3	3	2	3	3	5	1	2	3	5	1	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:144886317G>C	ENST00000356994.2	-	22	3025	c.3019C>G	c.(3019-3021)Ctg>Gtg	p.L1007V	SCRIB_ENST00000377533.3_Missense_Mutation_p.L926V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L1007V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1007	Interaction with ARHGEF7.|PDZ 3.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCTTGGCAGACGGATCTCC	0.627													5	30					0	0	0	0	C	144886317	G	C	144886317	3	2	496	1	0	0	0	0	1	0	0	0	14024	933	33	2	2012	2	SCRIB	8	144886317	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	507902	144886317	1477705	129	96300											
ARHGAP39	80728	broad.mit.edu	37	chr8	145772651	145772651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctgctgggccagcgcctCgtcctcgctgaaggcccgca	4	7	12	18	4	0	1	0	1	0	0	4	1	2	1	5	2	2	3	5	2	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:145772651C>T	ENST00000276826.5	-	4	2020	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E607K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E607K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	607					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCAGCGCCTCGTCCTCGCTG	0.687													6	14					0	0	0	0	T	145772651	C	T	145772651	3	4	496	1	0	0	0	0	1	0	0	0	886	893	31	1	1557	1	ARHGAP39	8	145772651	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	886334	145772651	591371	130	96301											
CDKN2A	1029	broad.mit.edu	37	chr9	21971008	21971008	+	Frame_Shift_Del	DEL	A	A	-																															gatggcccagctcctcagccAggtccacgggcagacggccc																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:21971008delA	ENST00000579755.1	-	2	685	c.393delT	c.(391-393)ccfs	p.P131fs	CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L66fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P131fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P172fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L117fs*29(1)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTCCTCAGCCAGGTCCACGGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	33	---	---	---	---					-	21971008	A	-	21971008	7	5	496	1	0	1	0	1	0	0	0	0	3190	188	7	0	128	0	CDKN2A	9	21971008	Frame_Shift_Del	DEL	A	TCGA-UF-A7J9-01A-12D-A34J-08		21971008	119242423	131	96302											
APBA1	320	broad.mit.edu	37	chr9	72073070	72073070	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagttgtttgtactgcAccttcttcctgcttttggct	5	18	9	9	0	1	1	0	1	1	0	2	2	2	1	2	1	3	6	2	1	2	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:72073070A>C	ENST00000265381.4	-	6	1738		c.e6+1		APBA1_ENST00000470082.1_Intron	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1						axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TTTGTACTGCACCTTCTTCCT	0.383													64	61					0	0	0	0	C	72073070	A	C	72073070	5	2	496	1	0	0	0	0	0	0	1	0	757	173	6	5	1028	5	APBA1	9	72073070	Splice_Site	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	50102062	72073070	69140361	132	96303											
SNX30	401548	broad.mit.edu	37	chr9	115598518	115598518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgcctacaagaagcaaGggatagcattgctgaccaga	15	6	11	9	1	0	4	0	2	0	2	0	5	0	5	2	1	5	3	2	1	6	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:115598518G>A	ENST00000374232.3	+	5	807	c.643G>A	c.(643-645)Ggg>Agg	p.G215R		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	215					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAGAAGCAAGGGATAGCATT	0.493													115	112					0	0	0	0	A	115598518	G	A	115598518	3	1	496	1	0	0	0	0	1	0	0	0	14988	1000	35	4	661	4	SNX30	9	115598518	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	43525448	115598518	25614913	133	96304											
ORM2	5005	broad.mit.edu	37	chr9	117093137	117093137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaatgggaccgtctccaGatacggtgagggccagccct	9	6	15	11	2	1	3	0	1	1	2	2	5	1	4	4	4	2	0	4	4	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:117093137G>C	ENST00000431067.2	+	3	359	c.323G>C	c.(322-324)aGa>aCa	p.R108T	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1			orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				ACCGTCTCCAGATACGGTGAG	0.567													6	102					0	0	0	0	C	117093137	G	C	117093137	3	2	496	1	0	0	0	0	1	0	0	0	11339	942	33	2	333	2	ORM2	9	117093137	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1494619	117093137	24120294	134	96305											
PAPPA	5069	broad.mit.edu	37	chr9	119115159	119115159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaatacaaatgcaagcctgGataccatgtgcctggatcct	13	9	8	11	0	0	0	0	0	0	0	1	2	1	2	4	2	5	1	4	2	5	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:119115159G>C	ENST00000328252.3	+	16	4508	c.4139G>C	c.(4138-4140)gGa>gCa	p.G1380A	PAPPA_ENST00000534838.1_Missense_Mutation_p.G418A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1380	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCAAGCCTGGATACCATGTG	0.527													26	18					0	0	0	0	C	119115159	G	C	119115159	3	2	496	1	0	0	0	0	1	0	0	0	11503	1174	41	2	4201	2	PAPPA	9	119115159	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2022022	119115159	22098272	135	96306											
MAN1B1	11253	broad.mit.edu	37	chr9	140002088	140002088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggactggggctgggagattCtgcagagcttcagccgattc	8	9	15	9	1	2	2	1	0	1	2	3	5	2	3	1	4	3	3	1	4	0	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:140002088C>T	ENST00000371589.4	+	12	1943	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.L327L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	624					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CTGGGAGATTCTGCAGAGCTT	0.657													89	87					0	0	0	0	T	140002088	C	T	140002088	2	4	496	1	0	0	0	0	0	0	0	1	9281	912	32	2		2	MAN1B1	9	140002088	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	20886929	140002088	1211343	136	96307											
PNPLA7	375775	broad.mit.edu	37	chr9	140356440	140356440	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcatcttctccagcacGccgctgcggccccagatgtc	6	7	11	17	4	2	1	0	0	2	1	4	2	2	2	4	2	3	3	4	2	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:140356440G>T	ENST00000406427.1	-	32	4035	c.3699C>A	c.(3697-3699)ggC>ggA	p.G1233G	PNPLA7_ENST00000371457.1_Silent_p.G814G|PNPLA7_ENST00000277531.4_Silent_p.G1208G|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1208					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTCCAGCACGCCGCTGCGGC	0.716													5	9					0.217242	0.218494	1	0	T	140356440	G	T	140356440	2	4	496	1	0	0	0	0	0	0	0	1	12242	1074	38	3		3	PNPLA7	9	140356440	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	354352	140356440	856991	137	96308											
OLAH	55301	broad.mit.edu	37	chr10	15091659	15091659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacattttcaactgcttaTacaaaaaccctgaggcaact	17	10	4	10	0	1	1	1	1	0	0	1	1	1	1	1	1	6	2	1	1	8	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:15091659T>C	ENST00000378217.3	+	3	245	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	OLAH_ENST00000378228.3_Missense_Mutation_p.Y20H	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	20					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CAACTGCTTATACAAAAACCC	0.358													20	87					0	0	0	0	C	15091659	T	C	15091659	3	2	496	1	0	0	0	0	1	0	0	0	10922	1406	49	5	64	5	OLAH	10	15091659	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08		15091659	120443088	138	96309											
CUBN	8029	broad.mit.edu	37	chr10	16893336	16893336	+	Frame_Shift_Del	DEL	C	C	-																															tttacaggtgcaattatgatCcatacacagtttaaattctt																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:16893336delC	ENST00000377833.4	-	60	9626	c.9561delG	c.(9559-9561)tgfs	p.W3187fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3187	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATTATGATCCATACACAGT	0.388													26	101	---	---	---	---					-	16893336	C	-	16893336	7	5	496	1	0	1	0	1	0	0	0	0	4083	856	30	0	1342	0	CUBN	10	16893336	Frame_Shift_Del	DEL	C	TCGA-UF-A7J9-01A-12D-A34J-08	1801677	16893336	118641411	139	96310											
CUBN	8029	broad.mit.edu	37	chr10	17165674	17165675	+	Frame_Shift_Ins	INS	-	-	T																															aaggattgctgctgcaaaccINStttttgtcaacagtctgaaa																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:17165674_17165675insT	ENST00000377833.4	-	5	466_467	c.401_402insA	c.(400-402)agtfs	p.S134fs	CUBN_ENST00000377823.1_Frame_Shift_Ins_p.S134fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	134	EGF-like 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCTGCAAACCTTTTTGTCAAC	0.446													7	30	---	---	---	---					T	17165675	-	T	17165674	7	5	496	1	0	1	1	0	0	0	0	0	4083	680	24	0	10721	0	CUBN	10	17165674	Frame_Shift_Ins	INS	-	TCGA-UF-A7J9-01A-12D-A34J-08	272338	17165674	118369073	140	96311											
ZNF438	220929	broad.mit.edu	37	chr10	31138152	31138152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttttccctgaaatgcCaaaatttcatctggtacctt	9	16	4	12	0	2	1	1	1	1	0	4	1	4	1	4	1	2	1	4	1	4	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:31138152C>G	ENST00000538351.1	-	7	1789	c.1035G>C	c.(1033-1035)ttG>ttC	p.L345F	ZNF438_ENST00000436087.2_Missense_Mutation_p.L394F|ZNF438_ENST00000331737.6_Missense_Mutation_p.L384F|ZNF438_ENST00000442986.1_Missense_Mutation_p.L394F|ZNF438_ENST00000452305.1_Missense_Mutation_p.L384F|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.L394F|ZNF438_ENST00000413025.1_Missense_Mutation_p.L394F|ZNF438_ENST00000444692.2_Missense_Mutation_p.L384F	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCTGAAATGCCAAAATTTCAT	0.373													30	122					0	0	0	0	G	31138152	C	G	31138152	3	3	496	1	0	0	0	0	1	0	0	0	18005	593	21	4	1312	4	ZNF438	10	31138152	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	13972478	31138152	104396595	141	96312											
C10orf10	11067	broad.mit.edu	37	chr10	45473055	45473055	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcccccatgggcttgcTgctgtccatctgtctatgtg	3	12	14	12	0	2	0	0	0	2	0	3	0	3	0	3	3	2	3	3	3	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:45473055T>A	ENST00000298295.3	-	2	641	c.424A>T	c.(424-426)Agc>Tgc	p.S142C	RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000374417.2_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	142						mitochondrion				lung(1)	1						ATGGGCTTGCTGCTGTCCATC	0.632													7	38					0	0	0	0	A	45473055	T	A	45473055	3	1	496	1	0	0	0	0	1	0	0	0	1589	1580	55	5	218	5	C10orf10	10	45473055	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	14334903	45473055	90061692	142	96313											
BICC1	80114	broad.mit.edu	37	chr10	60580202	60580202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataactacttttggtgccaGgaggaaaatgctgcttgcaa	13	11	10	7	0	0	0	0	0	0	0	0	2	0	2	1	3	6	3	1	3	6	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:60580202G>A	ENST00000373886.3	+	20	2772	c.2768G>A	c.(2767-2769)aGg>aAg	p.R923K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	923	SAM.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTGGTGCCAGGAGGAAAATG	0.408													11	107					0	0	0	0	A	60580202	G	A	60580202	3	1	496	1	0	0	0	0	1	0	0	0	1432	1000	35	4	2846	4	BICC1	10	60580202	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	15107147	60580202	74954545	143	96314											
AGAP11	119385	broad.mit.edu	37	chr10	88759231	88759231	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagctgttctacctttctgGaatggtgcatggagaatatc	10	13	10	8	0	2	1	0	0	2	1	3	3	2	2	1	3	3	3	1	3	5	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:88759231G>T	ENST00000444431.1	+	0	361				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TACCTTTCTGGAATGGTGCAT	0.353													25	75					4.7796e-09	5.26209e-09	1	0	T	88759231	G	T	88759231	1	4	496	0	1	0	0	0	0	0	0	0	367	1189	41	2		2	AGAP11	10	88759231	RNA	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	28179029	88759231	46775516	144	96315											
IDE	3416	broad.mit.edu	37	chr10	94294363	94294363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaccttctaggtgttcatGagaaacatcaaaatagtaat	15	11	8	7	0	3	1	2	1	1	1	3	2	3	1	1	2	1	3	1	2	6	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:94294363G>C	ENST00000265986.6	-	3	519	c.463C>G	c.(463-465)Cat>Gat	p.H155D		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	155					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTGTTCATGAGAAACATCA	0.353													17	107					0	0	0	0	C	94294363	G	C	94294363	3	2	496	1	0	0	0	0	1	0	0	0	7546	1290	45	2	2688	2	IDE	10	94294363	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	5535132	94294363	41240384	145	96316											
MMS19	64210	broad.mit.edu	37	chr10	99226647	99226647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtccttgaagccattcaGaggcctttgatctagggaag	9	11	12	9	0	2	3	1	2	1	1	3	4	3	4	3	3	1	0	3	3	3	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:99226647G>C	ENST00000438925.2	-	15	1644	c.1309C>G	c.(1309-1311)Ctg>Gtg	p.L437V	MMS19_ENST00000370782.2_Missense_Mutation_p.L437V|MMS19_ENST00000355839.6_Missense_Mutation_p.L394V|MMS19_ENST00000327238.10_Missense_Mutation_p.L339V|MMS19_ENST00000327277.7_Missense_Mutation_p.L73V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	437					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAGCCATTCAGAGGCCTTTGA	0.517								Direct reversal of damage					12	72					0	0	0	0	C	99226647	G	C	99226647	3	2	496	1	0	0	0	0	1	0	0	0	9742	933	33	2	1851	2	MMS19	10	99226647	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4932284	99226647	36308100	146	96317											
SORCS1	114815	broad.mit.edu	37	chr10	108924006	108924006	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatggatgccccagtgccCcgagcccgctccagggatag	7	5	13	16	2	0	0	0	0	0	0	1	3	1	2	7	2	3	1	7	2	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:108924006C>A	ENST00000263054.6	-	1	286	c.279G>T	c.(277-279)cgG>cgT	p.R93R	SORCS1_ENST00000344440.6_Silent_p.R93R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	93						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCCAGTGCCCCGAGCCCGCT	0.726													3	11					0.115264	0.1166	1	0	A	108924006	C	A	108924006	2	1	496	1	0	0	0	0	0	0	0	1	15018	610	22	4		4	SORCS1	10	108924006	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	9697359	108924006	26610741	147	96318											
PNLIP	5406	broad.mit.edu	37	chr10	118314954	118314954	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttccaaatggaggagTggaaatgcctggatgtaaaa	13	12	11	5	0	1	0	0	0	1	0	2	4	2	4	2	4	1	1	2	4	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:118314954T>G	ENST00000369221.2	+	8	774	c.746T>G	c.(745-747)gTg>gGg	p.V249G		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	249					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AATGGAGGAGTGGAAATGCCT	0.398													18	126					0	0	0	0	G	118314954	T	G	118314954	3	3	496	1	0	0	0	0	1	0	0	0	12221	1696	59	5	772	5	PNLIP	10	118314954	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	9390948	118314954	17219793	148	96319											
C11orf35	256329	broad.mit.edu	37	chr11	555112	555112	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctcttccggcacacCtggggggcgcgggggctgag	4	6	17	14	4	1	1	0	1	1	0	3	1	3	1	3	6	0	3	3	6	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:555112C>A	ENST00000329451.3	-	14	1836		c.e14-1			NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35											NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCGGCACACCTGGGGGGCGC	0.751													8	19					5.18039e-06	5.52892e-06	1	0	A	555112	C	A	555112	5	1	496	1	0	0	0	0	0	0	1	0	1649	695	24	4	135	4	C11orf35	11	555112	Splice_Site	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08		555112	134451404	149	96320											
BRSK2	9024	broad.mit.edu	37	chr11	1475730	1475730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctggcgaagaagtcCtggtttgggaacttcatcag	9	9	13	10	1	2	1	2	0	0	1	3	3	3	2	2	4	1	2	2	4	3	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:1475730C>T	ENST00000308219.9	+	16	1946	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	BRSK2_ENST00000382179.1_Silent_p.S566S|BRSK2_ENST00000531197.1_Silent_p.S520S|BRSK2_ENST00000308230.5_Silent_p.S542S|BRSK2_ENST00000526678.1_Silent_p.S542S|BRSK2_ENST00000528841.1_Silent_p.S520S|BRSK2_ENST00000544817.1_Silent_p.S215S|BRSK2_ENST00000528710.1_Silent_p.S460S	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	520					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGAAGAAGTCCTGGTTTGGGA	0.577													9	39					0	0	0	0	T	1475730	C	T	1475730	2	4	496	1	0	0	0	0	0	0	0	1	1532	668	24	4		4	BRSK2	11	1475730	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	920618	1475730	133530786	150	96321											
ZNF214	7761	broad.mit.edu	37	chr11	7021161	7021161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatcccttataatattcacGgcatttgtaaggtttctctc	11	16	5	9	1	2	0	1	0	1	0	5	0	3	0	1	2	0	3	1	2	5	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:7021161G>T	ENST00000278314.4	-	3	2068	c.1753C>A	c.(1753-1755)Cgt>Agt	p.R585S	ZNF214_ENST00000536068.1_Missense_Mutation_p.R585S	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TAATATTCACGGCATTTGTAA	0.338													13	72					0.0167234	0.0170159	1	0	T	7021161	G	T	7021161	3	4	496	1	0	0	0	0	1	0	0	0	17865	1116	39	3	71	3	ZNF214	11	7021161	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	5545431	7021161	127985355	151	96322											
NELL1	4745	broad.mit.edu	37	chr11	21594894	21594894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggacagctatggtgtttCacggcttagtggctcagtgt	6	13	13	9	1	2	0	2	0	0	0	2	1	2	1	1	4	1	4	1	4	2	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:21594894C>T	ENST00000298925.5	+	20	2558	c.2405C>T	c.(2404-2406)tCa>tTa	p.S802L	NELL1_ENST00000325319.5_Missense_Mutation_p.S717L|NELL1_ENST00000357134.5_Missense_Mutation_p.S774L|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.S727L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	774	VWFC 5.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGGTGTTTCACGGCTTAGT	0.483													18	165					0	0	0	0	T	21594894	C	T	21594894	3	4	496	1	0	0	0	0	1	0	0	0	10403	838	29	2	2395	2	NELL1	11	21594894	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	14573733	21594894	113411622	152	96323											
OR4C46	119749	broad.mit.edu	37	chr11	51515281	51515281	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attaatcatcatgagaaataCatggagaataggaataacat	20	10	7	4	0	2	2	2	1	0	2	2	5	2	3	0	2	2	0	0	2	7	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:51515281C>A	ENST00000328188.1	+	1	0		c.e1-1			NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAGAAATACATGGAGAATA	0.269													21	60					1.28384e-07	1.39583e-07	1	0	A	51515281	C	A	51515281	5	1	496	1	0	0	0	0	0	0	1	0	11122	493	17	4	2	4	OR4C46	11	51515281	Splice_Site	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	29920387	51515281	83491235	153	96324											
OR5D14	219436	broad.mit.edu	37	chr11	55563209	55563209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaccccaaatttcacactCctatgtactttttccttagt	10	17	2	12	0	1	0	1	0	0	0	3	0	3	0	4	0	2	1	4	0	5	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:55563209C>A	ENST00000335605.1	+	1	178	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P60T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATTTCACACTCCTATGTACTT	0.383													8	144					1.12685e-05	1.199e-05	1	0	A	55563209	C	A	55563209	3	1	496	1	0	0	0	0	1	0	0	0	11226	855	30	2	180	2	OR5D14	11	55563209	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	4047928	55563209	79443307	154	96325											
OR5R1	219479	broad.mit.edu	37	chr11	56185158	56185158	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaggacagagctaagAaggggaggtcatcacaatag	15	5	14	7	0	2	3	2	1	0	2	2	5	2	5	0	4	2	2	0	4	4	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:56185158A>T	ENST00000312253.1	-	1	550	c.551T>A	c.(550-552)tTc>tAc	p.F184Y		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	184			F -> L (in dbSNP:rs7930678).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CAGAGCTAAGAAGGGGAGGTC	0.453													6	64					0	0	0	0	T	56185158	A	T	56185158	3	4	496	1	0	0	0	0	1	0	0	0	11251	246	9	5	425	5	OR5R1	11	56185158	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	621949	56185158	78821358	155	96326											
OR5AP2	338675	broad.mit.edu	37	chr11	56409571	56409571	+	Frame_Shift_Del	DEL	C	C	-																															gccaacaggaagcactcagtCcccaggaaggagccaaagaa																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:56409571delC	ENST00000544374.1	-	1	376	c.348delG	c.(346-348)ggfs	p.G116fs	OR5AP2_ENST00000302981.1_Frame_Shift_Del_p.G115fs			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGCACTCAGTCCCCAGGAAGG	0.512													7	49	---	---	---	---					-	56409571	C	-	56409571	7	5	496	1	0	1	0	1	0	0	0	0	11215	842	30	0	609	0	OR5AP2	11	56409571	Frame_Shift_Del	DEL	C	TCGA-UF-A7J9-01A-12D-A34J-08	224413	56409571	78596945	156	96327											
CPSF7	79869	broad.mit.edu	37	chr11	61188974	61188983	+	Frame_Shift_Del	DEL	GGAGGAGGTG	GGAGGAGGTG	-																															gagatggctcctggcgaacaGgaggaggtggttcagtgctg																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:61188974_61188983delGGAGGAGGTG	ENST00000340437.4	-	3	361_370	c.281_290delCACCTCCTCC	c.(280-291)ctfs	p.PPPP94fs	CPSF7_ENST00000541963.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000394888.4_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.PPPP51fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	51	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	p.P53P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGGCGAACAGGAGGAGGTGGTTCAGTGCT	0.524													12	52	---	---	---	---					-	61188983	GGAGGAGGTG	-	61188974	7	5	496	1	0	1	0	1	0	0	0	0	3860	1000	35	0	1282	0	CPSF7	11	61188974	Frame_Shift_Del	DEL	GGAGGAGGTG	TCGA-UF-A7J9-01A-12D-A34J-08	4779403	61188974	73817542	157	96328											
ATG2A	23130	broad.mit.edu	37	chr11	64665373	64665373	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcctggggcctcctgCgaaccagtggtctctacgcc	5	8	10	18	2	1	0	0	0	1	0	4	1	3	0	7	3	3	0	7	3	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:64665373C>T	ENST00000421419.2	-	35	5052	c.4938G>A	c.(4936-4938)tcG>tcA	p.S1646S	ATG2A_ENST00000377264.3_Silent_p.S1644S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1644							protein binding	p.S1644S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGCCTCCTGCGAACCAGTGG	0.697													11	54					0	0	0	0	T	64665373	C	T	64665373	2	4	496	1	0	0	0	0	0	0	0	1	1097	755	27	1		1	ATG2A	11	64665373	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	3476399	64665373	70341143	158	96329											
SHANK2	22941	broad.mit.edu	37	chr11	70331795	70331795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccataaatgcttgcccatCtgcatagactgtgcaggtgt	11	11	9	10	0	1	1	0	0	1	1	1	1	1	1	2	1	5	3	2	1	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:70331795C>G	ENST00000338508.4	-	32	4605	c.4606G>C	c.(4606-4608)Gat>Cat	p.D1536H	SHANK2_ENST00000449833.2_Missense_Mutation_p.D940H|SHANK2_ENST00000409161.1_Missense_Mutation_p.D939H|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1156H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1156					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.D940Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGCCCATCTGCATAGACT	0.507													10	165					0	0	0	0	G	70331795	C	G	70331795	3	3	496	1	0	0	0	0	1	0	0	0	14353	913	32	2	954	2	SHANK2	11	70331795	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	5666422	70331795	64674721	159	96330											
NARS2	79731	broad.mit.edu	37	chr11	78285432	78285432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactcgcgttctgagccccGagagcgtcccgcacgctcag	6	6	11	18	6	2	2	1	1	1	1	4	3	3	2	4	0	2	3	4	0	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:78285432G>A	ENST00000281038.5	-	1	477	c.102C>T	c.(100-102)ctC>ctT	p.L34L		NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	34					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TCTGAGCCCCGAGAGCGTCCC	0.587													47	116					0	0	0	0	A	78285432	G	A	78285432	2	1	496	1	0	0	0	0	0	0	0	1	10241	1045	37	1		1	NARS2	11	78285432	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	7953637	78285432	56721084	160	96331											
DSCAML1	57453	broad.mit.edu	37	chr11	117395557	117395557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcctctgccgaaccGaaggtgttggtgacctcaca	7	9	12	13	2	2	1	1	1	1	0	2	3	2	1	5	3	2	1	5	3	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:117395557G>T	ENST00000321322.6	-	5	1081	c.1080C>A	c.(1078-1080)ttC>ttA	p.F360L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.F90L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	300	Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCCGAACCGAAGGTGTTGG	0.637													3	10					6.4e-05	6.72919e-05	1	0	T	117395557	G	T	117395557	3	4	496	1	0	0	0	0	1	0	0	0	4805	1049	37	3	5377	3	DSCAML1	11	117395557	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	39110125	117395557	17610959	161	96332											
BCL9L	283149	broad.mit.edu	37	chr11	118774061	118774061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggccaggaggagggccGtgcggggcgcctggcacgct	6	3	20	12	5	0	0	0	0	0	0	0	3	0	2	3	7	1	2	3	7	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:118774061G>A	ENST00000334801.3	-	4	1597	c.633C>T	c.(631-633)caC>caT	p.H211H	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	211					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GAGGAGGGCCGTGCGGGGCGC	0.697													5	14					0	0	0	0	A	118774061	G	A	118774061	2	1	496	1	0	0	0	0	0	0	0	1	1386	1136	40	1		1	BCL9L	11	118774061	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1378504	118774061	16232455	162	96333											
OR8B4	283162	broad.mit.edu	37	chr11	124294278	124294278	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcacagaaggtcagtcGcagcatgcttccagtgtggg	10	8	14	9	1	2	1	2	0	0	1	4	2	3	2	1	3	2	3	1	3	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124294278G>A	ENST00000356130.3	-	1	511	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R164*(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGTCAGTCGCAGCATGCTT	0.542													11	37					0	0	0	0	A	124294278	G	A	124294278	4	1	496	1	0	0	0	0	0	1	0	0	11300	1095	38	1	441	1	OR8B4	11	124294278	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	5520217	124294278	10712238	163	96334											
OR8B4	283162	broad.mit.edu	37	chr11	124294407	124294407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgcagatggccacatagcGatcataggccattgatacca	12	9	10	10	1	1	2	1	1	0	1	1	3	1	2	3	2	3	2	3	2	3	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124294407G>A	ENST00000356130.3	-	1	382	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCACATAGCGATCATAGGCC	0.453													37	65					0	0	0	0	A	124294407	G	A	124294407	3	1	496	1	0	0	0	0	1	0	0	0	11300	1058	37	1	570	1	OR8B4	11	124294407	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	129	124294407	10712109	164	96335											
ROBO3	64221	broad.mit.edu	37	chr11	124740596	124740596	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacagtgtgggccgcgcTgaagcatctggctccctcag	8	7	14	12	2	2	2	1	1	1	1	3	3	3	2	2	2	2	3	2	2	2	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124740596T>A	ENST00000397801.1	+	6	1197	c.1005T>A	c.(1003-1005)gcT>gcA	p.A335A	ROBO3_ENST00000538940.1_Silent_p.A313A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	335	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			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)		TGGGCCGCGCTGAAGCATCTG	0.582													3	19					0	0	0	0	A	124740596	T	A	124740596	2	1	496	1	0	0	0	0	0	0	0	1	13600	1567	55	5		5	ROBO3	11	124740596	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	446189	124740596	10265920	165	96336											
DDX25	29118	broad.mit.edu	37	chr11	125780305	125780305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggctctgcaaactggccGtgtggttgagcagatgggaa	9	10	15	7	1	1	2	0	1	1	1	1	3	1	3	1	4	3	4	1	4	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:125780305G>A	ENST00000263576.6	+	7	709	c.554G>A	c.(553-555)cGt>cAt	p.R185H	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	185	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CAAACTGGCCGTGTGGTTGAG	0.478													4	113					0	0	0	0	A	125780305	G	A	125780305	3	1	496	1	0	0	0	0	1	0	0	0	4384	1145	40	1	580	1	DDX25	11	125780305	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1039709	125780305	9226211	166	96337											
ZNF384	171017	broad.mit.edu	37	chr12	6787456	6787456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaccacctccgcctccttCctcggttagggtcgatgcta	6	10	8	17	3	0	0	0	0	0	0	5	1	3	0	7	2	1	2	7	2	2	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:6787456C>T	ENST00000396795.1	-	5	1020	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ZNF384_ENST00000396801.3_Missense_Mutation_p.E175K|ZNF384_ENST00000396799.2_Missense_Mutation_p.E175K|ZNF384_ENST00000319770.3_Missense_Mutation_p.E159K|ZNF384_ENST00000355772.4_Missense_Mutation_p.E120K|ZNF384_ENST00000361959.3_Missense_Mutation_p.E175K			Q8TF68	ZN384_HUMAN	zinc finger protein 384	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCGCCTCCTTCCTCGGTTAGG	0.607			T	"EWSR1, TAF15 "	ALL								14	63					0	0	0	0	T	6787456	C	T	6787456	3	4	496	1	0	0	0	0	1	0	0	0	17970	864	30	2	1234	2	ZNF384	12	6787456	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08		6787456	127064439	167	96338											
ITPR2	3709	broad.mit.edu	37	chr12	26540393	26540393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttgagccacataactttCaggtccagtgtattctgttg	9	15	8	9	0	2	1	1	1	1	0	3	1	3	1	2	1	2	2	2	1	2	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:26540393C>T	ENST00000381340.3	-	55	8247	c.7831G>A	c.(7831-7833)Gaa>Aaa	p.E2611K	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2611					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACATAACTTTCAGGTCCAGTG	0.378													4	153					0	0	0	0	T	26540393	C	T	26540393	3	4	496	1	0	0	0	0	1	0	0	0	7974	835	29	2	286	2	ITPR2	12	26540393	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	19752937	26540393	107311502	168	96339											
CAPRIN2	65981	broad.mit.edu	37	chr12	30867898	30867898	+	Missense_Mutation	SNP	T	T	A																															ttattcagggcatacctttaTaaccaccaggggaccgatag																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:30867898T>A	ENST00000251071.5	-	15	3395	c.2645A>T	c.(2644-2646)tAt>tTt	p.Y882F	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548F|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832F|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y826F	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	882					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATACCTTTATAACCACCAGG	0.413													52	106					0	0	0	0	A	30867898	T	A	30867898	3	1	496	1	0	0	0	0	1	0	0	0	2661	1406	49	5	754	5	CAPRIN2	12	30867898	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	4327505	30867898	102983997	169	96340	1149	2									
CAPRIN2	65981	broad.mit.edu	37	chr12	30867899	30867899	+	Missense_Mutation	SNP	A	A	T																															tattcagggcatacctttatAaccaccaggggaccgatagg																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:30867899A>T	ENST00000251071.5	-	15	3394	c.2644T>A	c.(2644-2646)Tat>Aat	p.Y882N	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832N|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y826N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	882					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATACCTTTATAACCACCAGGG	0.413													51	110					0	0	0	0	T	30867899	A	T	30867899	3	4	496	1	0	0	0	0	1	0	0	0	2661	362	13	5	755	5	CAPRIN2	12	30867899	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	1	30867899	102983996	170	96341	1149	2									
HOXC9	3225	broad.mit.edu	37	chr12	54396386	54396386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccgagcggcaggtcaaAatctggtttcagaatcgaag	12	8	11	10	3	4	1	3	0	1	1	5	3	4	1	1	3	1	2	1	3	4	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:54396386A>G	ENST00000303450.4	+	2	781	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.K237K	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	237					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GGCAGGTCAAAATCTGGTTTC	0.488													28	84					0	0	0	0	G	54396386	A	G	54396386	2	3	496	1	0	0	0	0	0	0	0	1	7367	11	1	5		5	HOXC9	12	54396386	Silent	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	23528487	54396386	79455509	171	96342											
LRP1	4035	broad.mit.edu	37	chr12	57584756	57584756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgacgccaccctggacaaGatcgagcggtgcgagtatga	10	7	13	11	4	1	3	0	2	1	1	2	6	1	4	2	2	2	1	2	2	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:57584756G>C	ENST00000243077.3	+	43	7666	c.7200G>C	c.(7198-7200)aaG>aaC	p.K2400N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2400					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTGGACAAGATCGAGCGGT	0.642													12	34					0	0	0	0	C	57584756	G	C	57584756	3	2	496	1	0	0	0	0	1	0	0	0	9015	933	33	2	7370	2	LRP1	12	57584756	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	3188370	57584756	76267139	172	96343											
PTPRB	5787	broad.mit.edu	37	chr12	70949734	70949734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggacaccaggtacctctTatggggcactagcatcatga	11	9	11	10	0	2	1	1	1	1	0	2	3	2	2	2	4	2	3	2	4	3	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:70949734T>C	ENST00000334414.6	-	19	4953	c.4909A>G	c.(4909-4911)Aag>Gag	p.K1637E	PTPRB_ENST00000261266.5_Missense_Mutation_p.K1419E|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1329E|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1329E|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1329E|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1549E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1419					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGTACCTCTTATGGGGCACT	0.478													17	78					0	0	0	0	C	70949734	T	C	70949734	3	2	496	1	0	0	0	0	1	0	0	0	12878	1763	61	5	1802	5	PTPRB	12	70949734	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	13364978	70949734	62902161	173	96344											
TBC1D15	64786	broad.mit.edu	37	chr12	72315214	72315214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaggcagaagcaatttctCtacagatggtaaaatgcaag	16	8	10	7	0	1	2	0	0	1	2	2	2	1	2	0	2	3	5	0	2	7	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:72315214C>G	ENST00000550746.1	+	17	1898	c.1834C>G	c.(1834-1836)Cta>Gta	p.L612V	TBC1D15_ENST00000393309.3_Missense_Mutation_p.L366V|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L603V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L595V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	612							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAATTTCTCTACAGATGGT	0.313													47	162					0	0	0	0	G	72315214	C	G	72315214	3	3	496	1	0	0	0	0	1	0	0	0	15695	912	32	2	2024	2	TBC1D15	12	72315214	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1365480	72315214	61536681	174	96345											
TPH2	121278	broad.mit.edu	37	chr12	72388285	72388285	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaagtttgctcagttttcAcaagaaataggtctggcgtc	10	13	9	9	1	3	1	2	0	1	1	4	1	3	1	1	2	1	3	1	2	4	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:72388285A>G	ENST00000333850.3	+	8	1149	c.1008A>G	c.(1006-1008)tcA>tcG	p.S336S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	336					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTCAGTTTTCACAAGAAATAG	0.413													39	131					0	0	0	0	G	72388285	A	G	72388285	2	3	496	1	0	0	0	0	0	0	0	1	16497	146	6	5		5	TPH2	12	72388285	Silent	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	73071	72388285	61463610	175	96346											
SYT1	6857	broad.mit.edu	37	chr12	79689870	79689870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctggtagggatcattcagGctgccgaactgcccgccttg	6	10	13	12	2	2	0	2	0	0	0	2	2	2	1	3	3	4	3	3	3	2	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:79689870G>C	ENST00000261205.4	+	7	1153	c.496G>C	c.(496-498)Gct>Cct	p.A166P	SYT1_ENST00000393240.3_Missense_Mutation_p.A166P|SYT1_ENST00000457153.2_Missense_Mutation_p.A163P|SYT1_ENST00000552744.1_Missense_Mutation_p.A166P	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	166	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GATCATTCAGGCTGCCGAACT	0.428													28	89					0	0	0	0	C	79689870	G	C	79689870	3	2	496	1	0	0	0	0	1	0	0	0	15556	1203	42	4	510	4	SYT1	12	79689870	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	7301585	79689870	54162025	176	96347											
PPFIA2	8499	broad.mit.edu	37	chr12	81688719	81688719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctgattccaatttctctCtggatctcagtgtcagataa	9	16	7	9	0	4	2	2	1	3	1	7	3	5	3	1	1	1	1	1	1	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:81688719C>G	ENST00000550584.2	-	23	3115	c.2820G>C	c.(2818-2820)caG>caC	p.Q940H	PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q866H|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q925H|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q841H|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q507H|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q787H|PPFIA2_ENST00000541017.1_Missense_Mutation_p.Q157H|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q925H	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	866										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CAATTTCTCTCTGGATCTCAG	0.493													11	46					0	0	0	0	G	81688719	C	G	81688719	3	3	496	1	0	0	0	0	1	0	0	0	12381	912	32	2	989	2	PPFIA2	12	81688719	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1998849	81688719	52163176	177	96348											
APAF1	317	broad.mit.edu	37	chr12	99056538	99056538	+	Frame_Shift_Del	DEL	G	G	-																															ctttttgttaatatgaagaaGgcagatttgccagaacaagc																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:99056538delG	ENST00000357310.1	+	7	1486	c.909delG	c.(907-909)aafs	p.K303fs	APAF1_ENST00000359972.2_Frame_Shift_Del_p.K292fs|APAF1_ENST00000552268.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000551964.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000333991.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K292fs|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K303fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K303fs	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	303	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATATGAAGAAGGCAGATTTGC	0.323													13	59	---	---	---	---					-	99056538	G	-	99056538	7	5	496	1	0	1	0	1	0	0	0	0	756	991	35	0	931	0	APAF1	12	99056538	Frame_Shift_Del	DEL	G	TCGA-UF-A7J9-01A-12D-A34J-08	17367819	99056538	34795357	178	96349											
WSCD2	9671	broad.mit.edu	37	chr12	108589888	108589888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaggtacggaccctggttCaagggcaaggatgggaatga	11	6	16	8	2	1	1	1	1	0	0	1	4	1	4	1	6	1	4	1	6	4	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:108589888C>T	ENST00000332082.4	+	3	1097	c.279C>T	c.(277-279)ttC>ttT	p.F93F	WSCD2_ENST00000547525.1_Silent_p.F93F|WSCD2_ENST00000261400.3_Silent_p.F93F|WSCD2_ENST00000549903.1_Silent_p.F93F			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	93						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GACCCTGGTTCAAGGGCAAGG	0.602													38	102					0	0	0	0	T	108589888	C	T	108589888	2	4	496	1	0	0	0	0	0	0	0	1	17503	825	29	2		2	WSCD2	12	108589888	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	9533350	108589888	25262007	179	96350											
KDM2B	84678	broad.mit.edu	37	chr12	121880535	121880535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtggtcgctctccctggtCttggggggcgcctcgggcag	2	9	18	12	3	2	0	0	0	2	0	5	1	2	0	2	6	0	2	2	6	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:121880535C>T	ENST00000377069.4	-	18	2908	c.2502G>A	c.(2500-2502)aaG>aaA	p.K834K	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.K271K|KDM2B_ENST00000377071.4_Silent_p.K903K	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	903					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTCCCTGGTCTTGGGGGGCG	0.697													8	21					0	0	0	0	T	121880535	C	T	121880535	2	4	496	1	0	0	0	0	0	0	0	1	8178	912	32	2		2	KDM2B	12	121880535	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	13290647	121880535	11971360	180	96351											
NCOR2	9612	broad.mit.edu	37	chr12	124856680	124856680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggccctgccgctccCgccctccttcttctctgcct	0	13	9	19	2	2	0	0	0	2	0	5	0	4	0	6	2	2	1	6	2	0	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:124856680C>A	ENST00000356219.3	-	21	2850	c.2695G>T	c.(2695-2697)Ggg>Tgg	p.G899W	NCOR2_ENST00000405201.1_Missense_Mutation_p.G899W|NCOR2_ENST00000404621.1_Missense_Mutation_p.G881W|NCOR2_ENST00000404121.2_Missense_Mutation_p.G452W|NCOR2_ENST00000429285.2_Missense_Mutation_p.G881W|NCOR2_ENST00000397355.1_Missense_Mutation_p.G882W	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	899					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGCCGCTCCCGCCCTCCTTC	0.721													21	75					5.26018e-13	6.03882e-13	1	0	A	124856680	C	A	124856680	3	1	496	1	0	0	0	0	1	0	0	0	10306	652	23	3	4985	3	NCOR2	12	124856680	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	2976145	124856680	8995215	181	96352											
ULK1	8408	broad.mit.edu	37	chr12	132393503	132393503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcggccacactctgcggctCccccatgtacatggtgtgtt	5	10	12	14	2	1	0	0	0	1	0	2	0	2	0	3	4	2	3	3	4	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:132393503C>T	ENST00000321867.4	+	7	902	c.551C>T	c.(550-552)tCc>tTc	p.S184F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	184	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTCTGCGGCTCCCCCATGTAC	0.672													26	102					0	0	0	0	T	132393503	C	T	132393503	3	4	496	1	0	0	0	0	1	0	0	0	17071	855	30	2	577	2	ULK1	12	132393503	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	7536823	132393503	1458392	182	96353											
SPATA13	221178	broad.mit.edu	37	chr13	24858302	24858302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggtactgagccctctGccttagtggatgacaacggt	9	10	13	9	1	1	2	0	2	1	0	1	4	1	4	2	4	4	1	2	4	3	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:24858302G>T	ENST00000424834.2	+	7	2667	c.2194G>T	c.(2194-2196)Gcc>Tcc	p.A732S	SPATA13_ENST00000343003.6_Missense_Mutation_p.A51S|SPATA13_ENST00000382108.3_Missense_Mutation_p.A732S|SPATA13_ENST00000409126.1_Missense_Mutation_p.A29S|SPATA13_ENST00000399949.2_Missense_Mutation_p.A29S|SPATA13_ENST00000382095.4_Missense_Mutation_p.A107S			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	107					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGAGCCCTCTGCCTTAGTGGA	0.473													9	48					1.58986e-06	1.70727e-06	1	0	T	24858302	G	T	24858302	3	4	496	1	0	0	0	0	1	0	0	0	15090	1319	46	4	2208	4	SPATA13	13	24858302	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		24858302	90311576	183	96354											
WASF3	10810	broad.mit.edu	37	chr13	27239176	27239176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctacaggcaaacatgctGaagacatatttggtgagttg	13	12	10	6	0	1	3	0	2	1	1	1	3	1	3	0	2	3	3	0	2	4	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:27239176G>A	ENST00000361042.4	+	4	370	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.E49K			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	49					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAAACATGCTGAAGACATATT	0.433													15	37					0	0	0	0	A	27239176	G	A	27239176	3	1	496	1	0	0	0	0	1	0	0	0	17350	1291	45	2	151	2	WASF3	13	27239176	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2380874	27239176	87930702	184	96355											
SLAIN1	122060	broad.mit.edu	37	chr13	78335059	78335059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacagcctatgtgagtcCaaccgttcaaggcagcagta	12	7	10	12	1	1	1	1	1	0	0	2	1	2	1	4	1	4	4	4	1	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:78335059C>A	ENST00000466548.1	+	7	1471	c.1445C>A	c.(1444-1446)cCa>cAa	p.P482Q	SLAIN1_ENST00000351546.3_Missense_Mutation_p.P219Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.P219Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P263Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.P340Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.P105Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.P263Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	482										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TATGTGAGTCCAACCGTTCAA	0.517													29	68					7.38237e-10	8.25784e-10	1	0	A	78335059	C	A	78335059	3	1	496	1	0	0	0	0	1	0	0	0	14453	594	21	4	806	4	SLAIN1	13	78335059	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	51095883	78335059	36834819	185	96356											
IPO5	3843	broad.mit.edu	37	chr13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacatcgttgagaatgCggttcaaaaagaactgagac	16	7	11	7	2	1	3	1	2	0	3	2	6	1	3	0	1	3	3	0	1	5	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:98658520C>T	ENST00000261574.5	+	17	1868	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000493492.2_3'UTR	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	545					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													4	106					0	0	0	0	T	98658520	C	T	98658520	3	4	496	1	0	0	0	0	1	0	0	0	7849	768	27	1	1746	1	IPO5	13	98658520	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	20323461	98658520	16511358	186	96357											
ADCY4	196883	broad.mit.edu	37	chr14	24800508	24800508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagccgtgccatgatctCtgccttcatctctcgggcca	5	11	9	16	2	3	1	1	1	2	0	6	1	3	1	4	1	4	1	4	1	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:24800508C>T	ENST00000310677.4	-	6	837	c.724G>A	c.(724-726)Gag>Aag	p.E242K	ADCY4_ENST00000418030.2_Missense_Mutation_p.E242K|ADCY4_ENST00000554068.2_Missense_Mutation_p.E242K|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	242					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCATGATCTCTGCCTTCATC	0.552													14	59					0	0	0	0	T	24800508	C	T	24800508	3	4	496	1	0	0	0	0	1	0	0	0	296	922	32	2	2593	2	ADCY4	14	24800508	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08		24800508	82549032	187	96358											
RALGAPA1	253959	broad.mit.edu	37	chr14	36074810	36074810	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcccaaccaagaccagcTacaaaatcttcatatgcttg	14	9	4	14	0	2	1	1	0	1	1	3	1	3	1	4	0	4	2	4	0	6	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:36074810T>A	ENST00000258840.6	-	36	6048	c.5658A>T	c.(5656-5658)gtA>gtT	p.V1886V	RALGAPA1_ENST00000382366.3_Silent_p.V1852V|RALGAPA1_ENST00000307138.6_Silent_p.V1839V|RALGAPA1_ENST00000389698.3_Silent_p.V1839V			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1839	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGACCAGCTACAAAATCTT	0.323													35	102					0	0	0	0	A	36074810	T	A	36074810	2	1	496	1	0	0	0	0	0	0	0	1	13095	1509	53	5		5	RALGAPA1	14	36074810	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	11274302	36074810	71274730	188	96359											
RTN1	6252	broad.mit.edu	37	chr14	60212702	60212702	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtccttgatgatttttcCctccacaggagctggtttgt	6	16	10	9	0	0	2	0	2	0	0	3	3	3	3	3	3	1	2	3	3	0	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:60212702C>A	ENST00000267484.5	-	2	1074	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	247			G -> E (in dbSNP:rs35645652).		neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ATGATTTTTCCCTCCACAGGA	0.448													59	125					5.22555e-25	6.44423e-25	1	0	A	60212702	C	A	60212702	4	1	496	1	0	0	0	0	0	1	0	0	13810	632	22	4	1688	4	RTN1	14	60212702	Nonsense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	24137892	60212702	47136838	189	96360											
PTPN21	11099	broad.mit.edu	37	chr14	88938785	88938785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgaataccattccttgttCtaatcgttgttccagaattt	9	18	6	8	1	1	2	0	1	1	1	4	2	3	2	3	0	1	3	3	0	4	8			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:88938785C>T	ENST00000556564.1	-	15	2958	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	PTPN21_ENST00000328736.3_Missense_Mutation_p.E892K	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	892						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATTCCTTGTTCTAATCGTTGT	0.368													12	36					0	0	0	0	T	88938785	C	T	88938785	3	4	496	1	0	0	0	0	1	0	0	0	12868	922	32	2	870	2	PTPN21	14	88938785	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	28726083	88938785	18410755	190	96361											
SERPINA5	5104	broad.mit.edu	37	chr14	95056438	95056438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagacttctacgtgacctCggagactgtggtgcgggtac	8	9	14	10	3	1	3	0	1	1	2	2	4	1	3	1	3	3	2	1	3	3	3	rs61740460	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:95056438C>T	ENST00000329597.7	+	4	890	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SERPINA5_ENST00000554866.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S227L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	227					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TACGTGACCTCGGAGACTGTG	0.512													14	30					0	0	0	0	T	95056438	C	T	95056438	3	4	496	1	0	0	0	0	1	0	0	0	14179	893	31	1	686	1	SERPINA5	14	95056438	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	6117653	95056438	12293102	191	96362											
BDKRB2	624	broad.mit.edu	37	chr14	96707634	96707634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctccttcatggcctacagCaacagctgcctcaacccact	9	8	6	18	0	2	0	2	0	0	0	3	0	3	0	5	1	6	2	5	1	3	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:96707634C>A	ENST00000542454.2	+	3	3976	c.888C>A	c.(886-888)agC>agA	p.S296R	BDKRB2_ENST00000554311.1_Missense_Mutation_p.S323R|BDKRB2_ENST00000306005.3_Missense_Mutation_p.S323R|BDKRB2_ENST00000539359.1_Missense_Mutation_p.S296R|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	323					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TGGCCTACAGCAACAGCTGCC	0.582													11	30					6.40141e-05	6.72919e-05	1	0	A	96707634	C	A	96707634	3	1	496	1	0	0	0	0	1	0	0	0	1397	709	25	4	975	4	BDKRB2	14	96707634	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1651196	96707634	10641906	192	96363											
BCL11B	64919	broad.mit.edu	37	chr14	99642174	99642174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgacgagccccatctcCtcggcactgaggcggtgcgg	5	6	16	14	5	1	1	0	1	1	0	3	3	1	1	3	5	2	1	3	5	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:99642174C>T	ENST00000345514.2	-	3	1052	c.786G>A	c.(784-786)gaG>gaA	p.E262E	BCL11B_ENST00000357195.3_Silent_p.E333E|BCL11B_ENST00000443726.2_Silent_p.E139E	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	333						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCCATCTCCTCGGCACTGA	0.736			T	TLX3	T-ALL								3	6					0	0	0	0	T	99642174	C	T	99642174	2	4	496	1	0	0	0	0	0	0	0	1	1368	680	24	4		4	BCL11B	14	99642174	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	2934540	99642174	7707366	193	96364											
RYR3	6263	broad.mit.edu	37	chr15	33893746	33893746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacacgactgattaacgatGtaaccaggtaaggccaccac	15	6	9	11	2	0	2	0	1	0	1	0	4	0	2	3	2	2	2	3	2	3	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:33893746G>A	ENST00000389232.4	+	17	1985	c.1915G>A	c.(1915-1917)Gta>Ata	p.V639I	RYR3_ENST00000415757.3_Missense_Mutation_p.V639I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	639	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATTAACGATGTAACCAGGTA	0.507													7	43					0	0	0	0	A	33893746	G	A	33893746	3	1	496	1	0	0	0	0	1	0	0	0	13855	1377	48	4	1981	4	RYR3	15	33893746	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		33893746	68637646	194	96365											
RYR3	6263	broad.mit.edu	37	chr15	34015019	34015019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggggaaacgggctcttGgcagccatgcagggtgccat	8	6	18	9	1	1	0	0	0	1	0	1	2	1	1	2	6	4	3	2	6	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:34015019G>T	ENST00000389232.4	+	44	6793	c.6723G>T	c.(6721-6723)ttG>ttT	p.L2241F	RYR3_ENST00000415757.3_Missense_Mutation_p.L2241F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2241	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGGGCTCTTGGCAGCCATGC	0.572													27	150					2.48779e-11	2.79177e-11	1	0	T	34015019	G	T	34015019	3	4	496	1	0	0	0	0	1	0	0	0	13855	1339	47	4	6897	4	RYR3	15	34015019	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	121273	34015019	68516373	195	96366											
RYR3	6263	broad.mit.edu	37	chr15	34040316	34040316	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaaattctcttctaggAgaaggaaatttatcgctggc	11	13	9	8	1	3	1	1	0	2	1	5	3	3	2	0	3	1	2	0	3	5	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:34040316A>G	ENST00000389232.4	+	54	8061	c.7989_splice	c.e54-1	p.E2664_splice	RYR3_ENST00000415757.3_Splice_Site_p.E2664_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2664	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E2664A(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)		CTCTTCTAGGAGAAGGAAATT	0.547													31	76					0	0	0	0	G	34040316	A	G	34040316	5	3	496	1	0	0	0	0	0	0	1	0	13855	318	11	5	8205	5	RYR3	15	34040316	Splice_Site	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	25297	34040316	68491076	196	96367											
MYEF2	50804	broad.mit.edu	37	chr15	48443684	48443684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctaccaagtctaccaaagGaatctccaaagccttgattt	13	10	5	13	0	2	1	0	1	2	0	3	2	2	2	5	1	3	0	5	1	6	4	rs80287989	by1000genomes	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:48443684G>A	ENST00000324324.7	-	13	1571	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	MYEF2_ENST00000267836.6_Missense_Mutation_p.S431F	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	431	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCTACCAAAGGAATCTCCAAA	0.388													95	225					0	0	0	0	A	48443684	G	A	48443684	3	1	496	1	0	0	0	0	1	0	0	0	10094	1174	41	2	530	2	MYEF2	15	48443684	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	14403368	48443684	54087708	197	96368											
LEO1	123169	broad.mit.edu	37	chr15	52245395	52245395	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtcttataaaaagatgaTtgtggtcgccctgcagtggg	9	13	12	7	1	1	2	0	1	1	1	2	2	1	2	1	2	1	1	1	2	4	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:52245395T>A	ENST00000299601.5	-	8	1466	c.1406A>T	c.(1405-1407)aAt>aTt	p.N469I	LEO1_ENST00000315141.5_Missense_Mutation_p.N409I	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	469					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AAAAAGATGATTGTGGTCGCC	0.373													17	57					0	0	0	0	A	52245395	T	A	52245395	3	1	496	1	0	0	0	0	1	0	0	0	8779	1493	52	5	614	5	LEO1	15	52245395	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	3801711	52245395	50285997	198	96369											
ONECUT1	3175	broad.mit.edu	37	chr15	53081731	53081731	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaacttgtccgagacTgtggagatgggaggcagcgg	8	7	20	6	2	0	2	0	0	0	2	1	6	1	4	1	6	2	1	1	6	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:53081731T>G	ENST00000305901.5	-	1	478	c.351A>C	c.(349-351)acA>acC	p.T117T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	117					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGTCCGAGACTGTGGAGATGG	0.642													6	29					0	0	0	0	G	53081731	T	G	53081731	2	3	496	1	0	0	0	0	0	0	0	1	10939	1567	55	5		5	ONECUT1	15	53081731	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	836336	53081731	49449661	199	96370											
VPS13C	54832	broad.mit.edu	37	chr15	62165562	62165562	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtaattgctgccaaaccTttcccaacagaaccggtgat	12	11	7	11	1	0	2	0	1	0	1	1	2	1	2	4	1	5	2	4	1	4	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:62165562T>C	ENST00000261517.5	-	78	10534	c.10461A>G	c.(10459-10461)aaA>aaG	p.K3487K	VPS13C_ENST00000249837.3_Silent_p.K3444K|VPS13C_ENST00000395898.3_Silent_p.K3444K|VPS13C_ENST00000395896.4_Silent_p.K3487K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3487					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCCAAACCTTTCCCAACAG	0.438													53	131					0	0	0	0	C	62165562	T	C	62165562	2	2	496	1	0	0	0	0	0	0	0	1	17287	1606	56	5		5	VPS13C	15	62165562	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	9083831	62165562	40365830	200	96371											
VPS13C	54832	broad.mit.edu	37	chr15	62182551	62182551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcccatccagaaatgataCccagtgtatctggatgtttg	10	11	10	10	1	1	2	0	1	1	1	2	3	2	3	3	1	1	2	3	1	3	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:62182551C>G	ENST00000261517.5	-	67	9227	c.9154G>C	c.(9154-9156)Gta>Cta	p.V3052L	VPS13C_ENST00000249837.3_Missense_Mutation_p.V3009L|VPS13C_ENST00000395898.3_Missense_Mutation_p.V3009L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V3052L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3052					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGAAATGATACCCAGTGTATC	0.423													26	47					0	0	0	0	G	62182551	C	G	62182551	3	3	496	1	0	0	0	0	1	0	0	0	17287	507	18	4	2211	4	VPS13C	15	62182551	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	16989	62182551	40348841	201	96372											
HERC1	8925	broad.mit.edu	37	chr15	63921014	63921014	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggtatggcctaagccgaGctgggaataaatcacaaata	14	9	11	7	1	1	0	1	0	0	0	1	2	1	1	2	3	2	3	2	3	7	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:63921014G>T	ENST00000443617.2	-	70	13054	c.12966_splice	c.e70-1	p.L4323_splice		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4323					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTAAGCCGAGCTGGGAATAA	0.438													21	86					1.10513e-12	1.26456e-12	1	0	T	63921014	G	T	63921014	5	4	496	1	0	0	0	0	0	0	1	0	7107	985	34	4	1654	4	HERC1	15	63921014	Splice_Site	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1738463	63921014	38610378	202	96373											
TLE3	7090	broad.mit.edu	37	chr15	70350626	70350626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggggtggaggatttgTcgttctgaagaggggagatg	8	9	19	5	1	1	3	0	1	1	2	2	6	1	5	1	6	0	1	1	6	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:70350626T>C	ENST00000558939.1	-	12	2300	c.923A>G	c.(922-924)gAc>gGc	p.D308G	TLE3_ENST00000557907.1_Missense_Mutation_p.D308G|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557997.1_Missense_Mutation_p.D308G|TLE3_ENST00000451782.2_Missense_Mutation_p.D308G|TLE3_ENST00000539550.1_Missense_Mutation_p.D252G|TLE3_ENST00000440567.3_Missense_Mutation_p.D301G|TLE3_ENST00000558201.1_Missense_Mutation_p.D314G|TLE3_ENST00000560589.1_Missense_Mutation_p.D252G|TLE3_ENST00000559929.1_Missense_Mutation_p.D318G|TLE3_ENST00000559048.1_Missense_Mutation_p.D313G|TLE3_ENST00000560939.1_Missense_Mutation_p.D313G|TLE3_ENST00000558379.1_Missense_Mutation_p.D308G|TLE3_ENST00000442299.2_Missense_Mutation_p.D308G|TLE3_ENST00000317509.8_Missense_Mutation_p.D308G			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	308	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAGGATTTGTCGTTCTGAAG	0.617													39	117					0	0	0	0	C	70350626	T	C	70350626	3	2	496	1	0	0	0	0	1	0	0	0	16034	1667	58	5	1431	5	TLE3	15	70350626	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	6429612	70350626	32180766	203	96374											
STRA6	64220	broad.mit.edu	37	chr15	74472517	74472517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taggccagaccccagcgagcCctgccgcggctggccccggg	5	3	15	18	4	0	1	0	0	0	1	0	2	0	1	7	4	3	1	7	4	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:74472517C>T	ENST00000323940.5	-	19	2153	c.1908G>A	c.(1906-1908)agG>agA	p.R636R	STRA6_ENST00000574278.1_Silent_p.R651R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Silent_p.R675R|STRA6_ENST00000535552.1_Silent_p.R673R|STRA6_ENST00000449139.2_Silent_p.R636R|STRA6_ENST00000423167.2_Silent_p.R627R|STRA6_ENST00000416286.3_Silent_p.R628R|STRA6_ENST00000395105.4_Silent_p.R636R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	636					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCCAGCGAGCCCTGCCGCGGC	0.647													60	145					0	0	0	0	T	74472517	C	T	74472517	2	4	496	1	0	0	0	0	0	0	0	1	15412	622	22	4		4	STRA6	15	74472517	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	4121891	74472517	28058875	204	96375											
TMC3	342125	broad.mit.edu	37	chr15	81625365	81625366	+	Frame_Shift_Ins	INS	-	-	T																															tctggccagacatttagatgINSttttttcttgtaagagtcac																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:81625365_81625366insT	ENST00000558726.1	-	22	2835_2836	c.2700_2701insA	c.(2698-2703)aaatctfs	p.S901fs	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Frame_Shift_Ins_p.S900fs			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	900						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACATTTAGATGTTTTTTCTTGT	0.51													15	139	---	---	---	---					T	81625366	-	T	81625365	7	5	496	1	0	1	1	0	0	0	0	0	16080	1377	48	0	608	0	TMC3	15	81625365	Frame_Shift_Ins	INS	-	TCGA-UF-A7J9-01A-12D-A34J-08	7152848	81625365	20906027	205	96376											
ACAN	176	broad.mit.edu	37	chr15	89417256	89417256	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcacctgcacagaccGtgagcatcaccccggccatc	10	6	8	17	2	3	3	3	1	0	2	4	3	3	3	5	1	2	2	5	1	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:89417256G>C	ENST00000439576.2	+	17	7890		c.e17+1		ACAN_ENST00000561243.1_Splice_Site|ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000352105.7_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan						cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCACAGACCGTGAGCATCAC	0.657													4	52					0	0	0	0	C	89417256	G	C	89417256	5	2	496	1	0	0	0	0	0	0	1	0	117	1159	40	3	7579	3	ACAN	15	89417256	Splice_Site	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	7791891	89417256	13114136	206	96377											
C15orf38	348110	broad.mit.edu	37	chr15	90447129	90447129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtcgggggtgaggctctCtgtcagcgcgagcagctctg	4	9	18	10	3	3	1	1	1	2	0	5	2	3	1	0	4	3	3	0	4	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:90447129C>T	ENST00000357484.5	-	4	508	c.388G>A	c.(388-390)Gag>Aag	p.E130K	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.E130K|C15orf38_ENST00000460685.1_Missense_Mutation_p.E34K	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GTGAGGCTCTCTGTCAGCGCG	0.647													18	75					0	0	0	0	T	90447129	C	T	90447129	3	4	496	1	0	0	0	0	1	0	0	0	1804	922	32	2	304	2	C15orf38	15	90447129	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1029873	90447129	12084263	207	96378											
PDPK1	5170	broad.mit.edu	37	chr16	2636824	2636824	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggactcgaactcctttGaactggacttacagttttcc	9	14	7	11	1	1	1	0	1	1	0	4	4	3	3	2	2	3	1	2	2	3	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:2636824G>T	ENST00000342085.4	+	11	1422	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	PDPK1_ENST00000441549.3_Nonsense_Mutation_p.E425*|PDPK1_ENST00000268673.7_Nonsense_Mutation_p.E298*|PDPK1_ENST00000354836.5_Nonsense_Mutation_p.E401*|PDPK1_ENST00000389224.3_Nonsense_Mutation_p.E398*	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	425					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GAACTCCTTTGAACTGGACTT	0.512													43	138					1.15183e-24	1.41049e-24	1	0	T	2636824	G	T	2636824	4	4	496	1	0	0	0	0	0	1	0	0	11758	1291	45	2	1315	2	PDPK1	16	2636824	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		2636824	87717929	208	96379											
PPL	5493	broad.mit.edu	37	chr16	4934828	4934828	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttggtgtctttcagggcctgGatttcctttttcagctggta	4	18	11	8	0	3	0	2	0	1	0	4	1	4	1	2	4	1	2	2	4	1	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:4934828G>C	ENST00000345988.2	-	22	3917	c.3828C>G	c.(3826-3828)atC>atG	p.I1276M	PPL_ENST00000590782.2_Missense_Mutation_p.I1274M	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1276					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGGGCCTGGATTTCCTTTT	0.522													58	192					0	0	0	0	C	4934828	G	C	4934828	3	2	496	1	0	0	0	0	1	0	0	0	12410	1164	41	2	1446	2	PPL	16	4934828	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2298004	4934828	85419925	209	96380											
PPL	5493	broad.mit.edu	37	chr16	4935231	4935231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggctagcgcgagccttgGcagcctcgtcctcatattgg	5	11	12	13	3	2	0	1	0	1	0	4	1	3	0	3	3	3	2	3	3	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:4935231G>A	ENST00000345988.2	-	22	3514	c.3425C>T	c.(3424-3426)gCc>gTc	p.A1142V	PPL_ENST00000590782.2_Missense_Mutation_p.A1140V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1142					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGAGCCTTGGCAGCCTCGTC	0.617													24	67					0	0	0	0	A	4935231	G	A	4935231	3	1	496	1	0	0	0	0	1	0	0	0	12410	1203	42	4	1849	4	PPL	16	4935231	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	403	4935231	85419522	210	96381											
LOC81691	81691	broad.mit.edu	37	chr16	20844357	20844357	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggattcagtgggtcagaAgcttctttttttgacccggg	6	15	12	8	1	3	2	2	1	1	1	3	3	3	3	1	3	1	1	1	3	1	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:20844357A>T	ENST00000261377.6	+	13	1504	c.1295A>T	c.(1294-1296)aAg>aTg	p.K432M	AC004381.6_ENST00000348433.6_Missense_Mutation_p.K432M|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K432M|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GTGGGTCAGAAGCTTCTTTTT	0.383													42	106					0	0	0	0	T	20844357	A	T	20844357	3	4	496	1	0	0	0	0	1	0	0	0	8954	72	3	5	1341	5	LOC81691	16	20844357	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	15909126	20844357	69510396	211	96382											
EARS2	124454	broad.mit.edu	37	chr16	23536611	23536611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtttcatcacattactgTacttggtgccttccagacct	8	14	8	11	0	2	1	2	0	0	1	3	2	3	2	3	2	3	2	3	2	2	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:23536611T>C	ENST00000449606.1	-	8	1473	c.1442A>G	c.(1441-1443)tAc>tGc	p.Y481C	EARS2_ENST00000563459.1_Missense_Mutation_p.Y481C|EARS2_ENST00000564501.1_Missense_Mutation_p.Y481C|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.Y481C	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	481					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CACATTACTGTACTTGGTGCC	0.483													18	63					0	0	0	0	C	23536611	T	C	23536611	3	2	496	1	0	0	0	0	1	0	0	0	4914	1638	57	5	137	5	EARS2	16	23536611	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	2692254	23536611	66818142	212	96383											
UBFD1	56061	broad.mit.edu	37	chr16	23574002	23574002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaatctggaggaaaagtGagactcacctttaaactaga	18	9	8	6	0	2	2	1	1	1	2	2	5	2	4	1	2	1	0	1	2	8	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:23574002G>A	ENST00000395878.3	+	5	1068	c.687G>A	c.(685-687)gtG>gtA	p.V229V	UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567212.1_Silent_p.V220V|UBFD1_ENST00000219638.4_Silent_p.V453V	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	229										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GAGGAAAAGTGAGACTCACCT	0.527													24	63					0	0	0	0	A	23574002	G	A	23574002	2	1	496	1	0	0	0	0	0	0	0	1	16980	1277	45	2		2	UBFD1	16	23574002	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	37391	23574002	66780751	213	96384											
CACNG3	10368	broad.mit.edu	37	chr16	24366162	24366162	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccgcaggagctgtgAgggcctccagtgtcttcccc	4	11	11	15	1	2	1	0	1	2	0	6	2	5	2	5	2	1	2	5	2	0	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:24366162A>T	ENST00000005284.3	+	3	1506	c.304A>T	c.(304-306)Agg>Tgg	p.R102W		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	102					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGGAGCTGTGAGGGCCTCCAG	0.632													20	60					0	0	0	0	T	24366162	A	T	24366162	3	4	496	1	0	0	0	0	1	0	0	0	2583	295	11	5	314	5	CACNG3	16	24366162	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	792160	24366162	65988591	214	96385											
STX4	6810	broad.mit.edu	37	chr16	31045645	31045648	+	Splice_Site	DEL	GAGT	GAGT	-																															gccacgccccttcccgaggaGagtgagtgaaaccccggctg																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:31045645_31045648delGAGT	ENST00000394998.1	+	4	568_569	c.226_splice	c.e4+1	p.E75_splice	STX4_ENST00000313843.3_Splice_Site_p.E77_splice|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	77					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TTCCCGAGGAGAGTGAGTGAAACC	0.598													32	122	---	---	---	---					-	31045648	GAGT	-	31045645	8	5	496	1	0	1	0	1	0	0	1	0	15437	956	33	0	241	0	STX4	16	31045645	Splice_Site	DEL	GAGT	TCGA-UF-A7J9-01A-12D-A34J-08	6679483	31045645	59309108	215	96386											
SLC16A13	201232	broad.mit.edu	37	chr17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccttcacatttgcccccTttttccagtggctgctcagc	4	14	6	17	0	2	0	2	0	0	0	4	0	4	0	5	1	3	2	5	1	0	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	158						integral to membrane|plasma membrane	symporter activity	p.F158L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTGCCCCCTTTTTCCAGTG	0.652													4	100					0	0	0	0	C	6941599	T	C	6941599	3	2	496	1	0	0	0	0	1	0	0	0	14494	1609	56	5	482	5	SLC16A13	17	6941599	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08		6941599	74253611	216	96387											
ZBTB4	57659	broad.mit.edu	37	chr17	7366892	7366892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgggcaaaagtgatgacaGagggtggagggccaggctct	10	6	19	6	0	1	3	0	2	1	1	1	4	1	4	1	6	0	2	1	6	2	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:7366892G>C	ENST00000311403.4	-	4	1748	c.1409C>G	c.(1408-1410)tCt>tGt	p.S470C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S470C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	470	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGTGATGACAGAGGGTGGAGG	0.672													19	25					0	0	0	0	C	7366892	G	C	7366892	3	2	496	1	0	0	0	0	1	0	0	0	17636	942	33	2	1636	2	ZBTB4	17	7366892	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	425293	7366892	73828318	217	96388											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:7577548C>A	ENST00000420246.2	-	7	865	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			33	46					1.36615e-20	1.64409e-20	1	0	A	7577548	C	A	7577548	3	1	496	1	0	0	0	0	1	0	0	0	16476	652	23	3	557	3	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	210656	7577548	73617662	218	96389											
MYH10	4628	broad.mit.edu	37	chr17	8402701	8402701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcctcttgtgctcagactCagccttgacctgctgcagga	6	12	9	14	0	3	2	2	1	1	1	4	3	4	3	3	1	4	3	3	1	0	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:8402701C>G	ENST00000360416.3	-	30	3976	c.3838G>C	c.(3838-3840)Gag>Cag	p.E1280Q	MYH10_ENST00000269243.4_Missense_Mutation_p.E1249Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1270Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1265Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1249					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGCTCAGACTCAGCCTTGACC	0.567													43	58					0	0	0	0	G	8402701	C	G	8402701	3	3	496	1	0	0	0	0	1	0	0	0	10100	835	29	2	2241	2	MYH10	17	8402701	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	825153	8402701	72792509	219	96390											
MYH13	8735	broad.mit.edu	37	chr17	10209851	10209851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatctagacggtgctgCaggtccttcaccgtctgctc	5	11	10	15	2	4	1	2	0	2	1	6	1	5	1	3	2	3	3	3	2	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:10209851C>T	ENST00000418404.3	-	36	5554	c.5391G>A	c.(5389-5391)ctG>ctA	p.L1797L	MYH13_ENST00000570743.1_Silent_p.L1797L|MYH13_ENST00000252172.4_Silent_p.L1797L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1797					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACGGTGCTGCAGGTCCTTCA	0.557													75	114					0	0	0	0	T	10209851	C	T	10209851	2	4	496	1	0	0	0	0	0	0	0	1	10102	697	25	4		4	MYH13	17	10209851	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1807150	10209851	70985359	220	96391											
SLC6A4	6532	broad.mit.edu	37	chr17	28544279	28544279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagctgatgccccccaGgtcctggagccccttagacc	6	7	10	18	0	0	2	0	1	0	1	1	3	1	3	8	2	4	1	8	2	1	1	rs76377611		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:28544279G>A	ENST00000401766.2	-	5	1254	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	SLC6A4_ENST00000261707.3_Silent_p.L248L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	248					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATGCCCCCCAGGTCCTGGAGC	0.587													33	86					0	0	0	0	A	28544279	G	A	28544279	2	1	496	1	0	0	0	0	0	0	0	1	14774	991	35	4		4	SLC6A4	17	28544279	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	18334428	28544279	52650931	221	96392											
STARD3	10948	broad.mit.edu	37	chr17	37816726	37816726	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtgtaccaggaggtgAtcctgcagcccgagaggatg	9	7	15	10	2	0	2	0	1	0	1	2	5	1	4	3	3	4	3	3	3	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:37816726A>T	ENST00000336308.5	+	11	1119	c.901A>T	c.(901-903)Atc>Ttc	p.I301F	STARD3_ENST00000544210.2_Missense_Mutation_p.I301F|STARD3_ENST00000394250.4_Missense_Mutation_p.I283F|STARD3_ENST00000580611.1_Missense_Mutation_p.I275F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	301	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCAGGAGGTGATCCTGCAGCC	0.647													19	49					0	0	0	0	T	37816726	A	T	37816726	3	4	496	1	0	0	0	0	1	0	0	0	15347	333	12	5	952	5	STARD3	17	37816726	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	9272447	37816726	43378484	222	96393											
KRT9	3857	broad.mit.edu	37	chr17	39724874	39724874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctactggatacctcatgctcGatctgggttatctgcaaaac	10	12	8	11	1	3	0	1	0	2	0	4	2	3	1	1	2	5	3	1	2	5	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:39724874G>A	ENST00000246662.4	-	5	1121	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	KRT9_ENST00000588431.1_Silent_p.I119I	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	352	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCTCATGCTCGATCTGGGTTA	0.552													6	371					0	0	0	0	A	39724874	G	A	39724874	2	1	496	1	0	0	0	0	0	0	0	1	8553	1048	37	1		1	KRT9	17	39724874	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1908148	39724874	41470336	223	96394											
STAT5A	6776	broad.mit.edu	37	chr17	40458300	40458300	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgacaaagtgctgtggccGcagctgtgtgaggcgctcaa	8	8	14	11	2	1	2	1	2	0	0	1	2	1	2	2	2	2	4	2	2	2	0	rs141500114		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:40458300G>T	ENST00000345506.4	+	14	2157	c.1515G>T	c.(1513-1515)ccG>ccT	p.P505P	STAT5A_ENST00000588868.1_Silent_p.P474P|STAT5A_ENST00000590949.1_Silent_p.P505P|STAT5A_ENST00000546010.2_Silent_p.P475P|STAT5A_ENST00000587646.1_5'UTR|STAT5A_ENST00000452307.2_Silent_p.P505P	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	505					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGCTGTGGCCGCAGCTGTGTG	0.547													20	61					7.92952e-12	8.956e-12	1	0	T	40458300	G	T	40458300	2	4	496	1	0	0	0	0	0	0	0	1	15358	1074	38	3		3	STAT5A	17	40458300	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	733426	40458300	40736910	224	96395											
MPP2	4355	broad.mit.edu	37	chr17	41958680	41958680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcctccagcagctggctgGgaatgagcccagcactgccc	7	7	11	16	0	1	1	0	1	1	0	3	2	2	2	4	2	5	4	4	2	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:41958680G>A	ENST00000269095.4	-	8	1155	c.851C>T	c.(850-852)cCc>cTc	p.P284L	MPP2_ENST00000461854.1_Missense_Mutation_p.P308L|MPP2_ENST00000520305.1_Missense_Mutation_p.P145L|MPP2_ENST00000518766.1_Missense_Mutation_p.P329L|MPP2_ENST00000523501.1_Missense_Mutation_p.P273L|MPP2_ENST00000536246.1_Missense_Mutation_p.P273L|MPP2_ENST00000377184.3_Missense_Mutation_p.P301L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	308	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGCTGGCTGGGAATGAGCCC	0.592											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	77					0	0	0	0	A	41958680	G	A	41958680	3	1	496	1	0	0	0	0	1	0	0	0	9804	1232	43	4	831	4	MPP2	17	41958680	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1500380	41958680	39236530	225	96396											
HOXB2	3212	broad.mit.edu	37	chr17	46621910	46621910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgatccgaccccggaggccgGaacggcggaggcggccggag	7	1	19	14	8	0	0	0	0	0	0	1	6	1	4	5	8	1	0	5	8	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:46621910G>A	ENST00000330070.4	-	1	1531	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	122					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCGGAGGCCGGAACGGCGGAG	0.642													4	10					0	0	0	0	A	46621910	G	A	46621910	3	1	496	1	0	0	0	0	1	0	0	0	7351	1174	41	2	714	2	HOXB2	17	46621910	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4663230	46621910	34573300	226	96397											
SLC35B1	10237	broad.mit.edu	37	chr17	47783631	47783631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggcacccagataggagaTagaacaggcagcatagagcc	15	4	12	10	0	0	4	0	0	0	4	0	5	0	4	2	3	3	3	2	3	4	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:47783631T>C	ENST00000240333.6	-	3	395	c.274A>G	c.(274-276)Atc>Gtc	p.I92V	SLC35B1_ENST00000415270.2_Missense_Mutation_p.I129V			P78383	S35B1_HUMAN	solute carrier family 35, member B1	92						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGATAGGAGATAGAACAGGCA	0.468													11	38					0	0	0	0	C	47783631	T	C	47783631	3	2	496	1	0	0	0	0	1	0	0	0	14663	1406	49	5	722	5	SLC35B1	17	47783631	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	1161721	47783631	33411579	227	96398											
BZRAP1	9256	broad.mit.edu	37	chr17	56388466	56388466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagtccgccgactcccCgtggggcgacatggtgcgca	6	6	16	13	5	0	0	0	0	0	0	2	4	2	1	4	4	1	1	4	4	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:56388466C>T	ENST00000355701.3	-	19	4060	c.3190G>A	c.(3190-3192)Ggg>Agg	p.G1064R	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1004R|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1064R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1064	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCGACTCCCCGTGGGGCGAC	0.692													4	13					0	0	0	0	T	56388466	C	T	56388466	3	4	496	1	0	0	0	0	1	0	0	0	1586	652	23	1	2435	1	BZRAP1	17	56388466	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	8604835	56388466	24806744	228	96399											
DDX42	11325	broad.mit.edu	37	chr17	61888504	61888504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacatcctgatcgaccctAttcgagtggtgcagggagat	10	9	13	9	2	0	3	0	1	0	2	3	7	1	3	2	2	1	1	2	2	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:61888504A>G	ENST00000578681.1	+	14	1970	c.1369A>G	c.(1369-1371)Att>Gtt	p.I457V	DDX42_ENST00000583590.1_Missense_Mutation_p.I457V|DDX42_ENST00000457800.2_Missense_Mutation_p.I457V|DDX42_ENST00000389924.2_Missense_Mutation_p.I457V|DDX42_ENST00000359353.5_Missense_Mutation_p.I338V	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	457	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATCGACCCTATTCGAGTGGT	0.398													24	65					0	0	0	0	G	61888504	A	G	61888504	3	3	496	1	0	0	0	0	1	0	0	0	4394	449	16	5	1415	5	DDX42	17	61888504	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	5500038	61888504	19306706	229	96400											
GH2	2689	broad.mit.edu	37	chr17	61957720	61957720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccacagagcggcactgcacGatgcgcaggaatgtctcgac	10	6	12	13	4	1	1	0	0	1	1	3	4	2	2	1	2	3	3	1	2	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:61957720G>C	ENST00000423893.2	-	5	676	c.615C>G	c.(613-615)atC>atG	p.I205M	GH2_ENST00000449787.2_Missense_Mutation_p.I190M|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Missense_Mutation_p.S204W			P01242	SOM2_HUMAN	growth hormone 2	205						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GGCACTGCACGATGCGCAGGA	0.587													29	82					0	0	0	0	C	61957720	G	C	61957720	3	2	496	1	0	0	0	0	1	0	0	0	6419	1059	37	3	130	3	GH2	17	61957720	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	69216	61957720	19237490	230	96401											
AFG3L2	10939	broad.mit.edu	37	chr18	12358916	12358916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaggcgatgatgagcaccGtaggcagcatgctcagcaga	13	5	14	9	2	1	4	1	2	0	2	1	5	1	4	1	2	4	6	1	2	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:12358916G>A	ENST00000269143.3	-	8	1010	c.779C>T	c.(778-780)aCg>aTg	p.T260M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	260					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GATGAGCACCGTAGGCAGCAT	0.572													7	25					0	0	0	0	A	12358916	G	A	12358916	3	1	496	1	0	0	0	0	1	0	0	0	360	1145	40	1	1654	1	AFG3L2	18	12358916	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		12358916	65718332	231	96402											
NOL4	8715	broad.mit.edu	37	chr18	31673444	31673444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccatcttgctggccatGaagattctggggactttgca	8	13	10	10	0	2	2	0	1	2	1	2	3	2	3	2	3	3	2	2	3	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:31673444G>C	ENST00000261592.5	-	5	1054	c.757C>G	c.(757-759)Cat>Gat	p.H253D	NOL4_ENST00000538587.1_Missense_Mutation_p.H179D|NOL4_ENST00000535475.1_Missense_Mutation_p.H98D|NOL4_ENST00000589544.1_Missense_Mutation_p.H253D|NOL4_ENST00000269185.4_Missense_Mutation_p.H139D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	253						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGCTGGCCATGAAGATTCTGG	0.383													39	108					0	0	0	0	C	31673444	G	C	31673444	3	2	496	1	0	0	0	0	1	0	0	0	10594	1290	45	2	1187	2	NOL4	18	31673444	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	19314528	31673444	46403804	232	96403											
DSEL	92126	broad.mit.edu	37	chr18	65180625	65180625	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggaatgtgtgtattttTgcagtaccataatcagcagg	11	14	11	5	0	1	0	1	0	0	0	1	1	1	1	1	2	3	4	1	2	5	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:65180625T>C	ENST00000310045.7	-	2	2724	c.1251A>G	c.(1249-1251)gcA>gcG	p.A417A	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	407						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGTATTTTTGCAGTACCAT	0.478													21	54					0	0	0	0	C	65180625	T	C	65180625	2	2	496	1	0	0	0	0	0	0	0	1	4811	1799	63	5		5	DSEL	18	65180625	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	33507181	65180625	12896623	233	96404											
ZNF516	9658	broad.mit.edu	37	chr18	74153353	74153353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgatccgcagcgggccCgcgccgccctgtccccgtca	4	6	13	18	6	1	2	1	2	0	0	3	2	3	2	6	1	1	1	6	1	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:74153353C>A	ENST00000443185.2	-	3	1975	c.1658G>T	c.(1657-1659)cGg>cTg	p.R553L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCAGCGGGCCCGCGCCGCCCT	0.711													14	27					9.16793e-09	9.99877e-09	1	0	A	74153353	C	A	74153353	3	1	496	1	0	0	0	0	1	0	0	0	18055	652	23	3	1854	3	ZNF516	18	74153353	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	8972728	74153353	3923895	234	96405											
PARD6G	84552	broad.mit.edu	37	chr18	77918076	77918076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgtggctgttggcgaTcatcatgtccgtgacctggt	5	13	15	8	2	2	1	2	1	0	0	3	3	3	1	2	4	0	3	2	4	0	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:77918076T>C	ENST00000353265.3	-	3	906	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	237	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CTGTTGGCGATCATCATGTCC	0.667													25	45					0	0	0	0	C	77918076	T	C	77918076	3	2	496	1	0	0	0	0	1	0	0	0	11518	1435	50	5	425	5	PARD6G	18	77918076	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	3764723	77918076	159172	235	96406											
PTBP1	5725	broad.mit.edu	37	chr19	810548	810548	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctcctcccacaggccctCagtctccgaggaggatctca	7	10	8	16	1	4	0	2	0	3	0	8	3	5	2	4	3	0	0	4	3	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:810548C>G	ENST00000356948.6	+	14	1892	c.1469C>G	c.(1468-1470)tCa>tGa	p.S490*	PTBP1_ENST00000349038.4_Nonsense_Mutation_p.S464*|PTBP1_ENST00000394601.4_Nonsense_Mutation_p.S483*|PTBP1_ENST00000350092.4_Nonsense_Mutation_p.S130*	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	464	RRM 4.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CACAGGCCCTCAGTCTCCGAG	0.612													25	55					0	0	0	0	G	810548	C	G	810548	4	3	496	1	0	0	0	0	0	1	0	0	12804	838	29	2	1523	2	PTBP1	19	810548	Nonsense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08		810548	58318435	236	96407											
GAMT	2593	broad.mit.edu	37	chr19	1397496	1397496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagcgcgggcacctgcgtCtcctggtcggggatggcacc	5	6	16	14	4	1	0	0	0	1	0	3	1	1	1	3	5	3	3	3	5	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:1397496C>G	ENST00000252288.2	-	6	639	c.573G>C	c.(571-573)gaG>gaC	p.E191D		NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	191					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	GCACCTGCGTCTCCTGGTCGG	0.667													19	60					0	0	0	0	G	1397496	C	G	1397496	3	3	496	1	0	0	0	0	1	0	0	0	6280	912	32	2	141	2	GAMT	19	1397496	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	586948	1397496	57731487	237	96408											
DAZAP1	26528	broad.mit.edu	37	chr19	1418713	1418713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcagccggagagaacaCggccgaaggaaggatgggta	13	3	18	7	3	0	1	0	0	0	1	0	7	0	5	2	6	3	2	2	6	4	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:1418713C>T	ENST00000336761.6	+	4	491	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.R96W	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	96	RRM 1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGAGAACACGGCCGAAGGA	0.567													4	121					0	0	0	0	T	1418713	C	T	1418713	3	4	496	1	0	0	0	0	1	0	0	0	4277	527	19	1	300	1	DAZAP1	19	1418713	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	21217	1418713	57710270	238	96409											
LMNB2	84823	broad.mit.edu	37	chr19	2431827	2431827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggaagctctcgcccgtgCcccagctgctctggcccttc	3	9	11	18	3	2	0	0	0	2	0	4	1	2	1	4	2	5	3	4	2	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:2431827C>A	ENST00000325327.3	-	10	1726	c.1664G>T	c.(1663-1665)gGc>gTc	p.G555V	LMNB2_ENST00000582871.1_Missense_Mutation_p.G535V|LMNB2_ENST00000475819.1_5'UTR			Q03252	LMNB2_HUMAN	lamin B2	535	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CTCGCCCGTGCCCCAGCTGCT	0.687													19	49					3.32936e-07	3.60853e-07	1	0	A	2431827	C	A	2431827	3	1	496	1	0	0	0	0	1	0	0	0	8905	739	26	4	210	4	LMNB2	19	2431827	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1013114	2431827	56697156	239	96410											
MUC16	94025	broad.mit.edu	37	chr19	9060598	9060598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaggaatagaattcttGtctagcgctgatggtgccca	12	11	11	7	1	2	3	0	1	2	2	2	4	2	4	1	2	2	1	1	2	5	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:9060598G>T	ENST00000397910.4	-	3	27051	c.26848C>A	c.(26848-26850)Caa>Aaa	p.Q8950K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8952	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAATTCTTGTCTAGCGCTG	0.473													84	190					2.13431e-38	2.66026e-38	1	0	T	9060598	G	T	9060598	3	4	496	1	0	0	0	0	1	0	0	0	10043	1386	48	4	17003	4	MUC16	19	9060598	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	6628771	9060598	50068385	240	96411											
ZNF93	81931	broad.mit.edu	37	chr19	20044215	20044215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttcaatgtgataaatatGggaaagtctttcataaattt	15	17	6	3	0	3	1	2	1	1	0	3	2	3	2	0	1	0	0	0	1	8	7			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:20044215G>T	ENST00000343769.5	+	4	479	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	151						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGATAAATATGGGAAAGTCTT	0.323													11	88					9.70103e-10	1.07824e-09	1	0	T	20044215	G	T	20044215	3	4	496	1	0	0	0	0	1	0	0	0	18295	1348	47	4	465	4	ZNF93	19	20044215	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	10983617	20044215	39084768	241	96412											
ZNF85	7639	broad.mit.edu	37	chr19	21131712	21131712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagatgcacaaaggaggttGtaatggacttaaccaatgtc	15	10	10	6	0	0	1	0	0	0	1	1	3	0	3	1	3	2	3	1	3	5	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:21131712G>T	ENST00000601023.1	+	2	861	c.215G>T	c.(214-216)tGt>tTt	p.C72F	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000328178.8_Missense_Mutation_p.C131F|ZNF85_ENST00000345030.6_Missense_Mutation_p.C98F			Q03923	ZNF85_HUMAN	zinc finger protein 85	131	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.C131F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAGGAGGTTGTAATGGACTT	0.328													34	109					6.90743e-12	7.85242e-12	1	0	T	21131712	G	T	21131712	3	4	496	1	0	0	0	0	1	0	0	0	18286	1377	48	4	406	4	ZNF85	19	21131712	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1087497	21131712	37997271	242	96413											
ZNF430	80264	broad.mit.edu	37	chr19	21240151	21240151	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactggagagaaaccctacaAatgtgaagaatgtggcaaag	17	7	11	6	0	0	3	0	1	0	2	0	5	0	4	1	2	3	1	1	2	7	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:21240151A>T	ENST00000261560.5	+	5	1218	c.1037A>T	c.(1036-1038)aAa>aTa	p.K346I		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAACCCTACAAATGTGAAGAA	0.403													41	127					0	0	0	0	T	21240151	A	T	21240151	3	4	496	1	0	0	0	0	1	0	0	0	17999	14	1	5	1055	5	ZNF430	19	21240151	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	108439	21240151	37888832	243	96414											
POP4	10775	broad.mit.edu	37	chr19	30102828	30102828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcagggacctgtgcaGtgggctcaagccagacacgt	10	7	13	11	1	2	1	2	0	0	1	2	2	2	2	2	2	3	3	2	2	2	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:30102828G>T	ENST00000585603.1	+	4	2646	c.344G>T	c.(343-345)aGt>aTt	p.S115I	POP4_ENST00000221770.3_5'UTR|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.S34I			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	115					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GACCTGTGCAGTGGGCTCAAG	0.488													21	76					6.21321e-17	7.32571e-17	1	0	T	30102828	G	T	30102828	3	4	496	1	0	0	0	0	1	0	0	0	12324	1029	36	4	358	4	POP4	19	30102828	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	8862677	30102828	29026155	244	96415											
ZNF573	126231	broad.mit.edu	37	chr19	38229927	38229927	+	Frame_Shift_Del	DEL	A	A	-																															tcaccagtatgagttttccgAtgttgaataaggtttgagcc																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:38229927delA	ENST00000339503.4	-	8	1791	c.1290delT	c.(1288-1290)cafs	p.H430fs	ZNF573_ENST00000357309.3_Frame_Shift_Del_p.H400fs|ZNF573_ENST00000392138.1_Frame_Shift_Del_p.H401fs|ZNF573_ENST00000536220.1_Frame_Shift_Del_p.H400fs|ZNF573_ENST00000590414.2_Frame_Shift_Del_p.H488fs	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GAGTTTTCCGATGTTGAATAA	0.373													46	118	---	---	---	---					-	38229927	A	-	38229927	7	5	496	1	0	1	0	1	0	0	0	0	18100	330	12	0	537	0	ZNF573	19	38229927	Frame_Shift_Del	DEL	A	TCGA-UF-A7J9-01A-12D-A34J-08	8127099	38229927	20899056	245	96416											
PRR19	284338	broad.mit.edu	37	chr19	42813950	42813950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccagggccggctgagccggGagcaccggggtctcttcaac	6	5	15	15	3	2	1	1	1	1	0	3	2	2	2	4	5	3	2	4	5	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:42813950G>A	ENST00000499536.2	+	1	1025	c.214G>A	c.(214-216)Gag>Aag	p.E72K	PRR19_ENST00000341747.3_Missense_Mutation_p.E72K|PRR19_ENST00000598490.1_Missense_Mutation_p.E72K			A6NJB7	PRR19_HUMAN	proline rich 19	72										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GCTGAGCCGGGAGCACCGGGG	0.627													48	189					0	0	0	0	A	42813950	G	A	42813950	3	1	496	1	0	0	0	0	1	0	0	0	12671	1175	41	2	216	2	PRR19	19	42813950	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4584023	42813950	16315033	246	96417											
TPRX1	284355	broad.mit.edu	37	chr19	48305074	48305074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcctgagtgattttcattCacagagccaccctcctcttg	7	12	9	13	0	3	3	2	2	1	1	4	3	4	3	4	1	1	0	4	1	0	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:48305074C>T	ENST00000535759.1	-	4	1484	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V	TPRX1_ENST00000322175.3_Silent_p.V398V|TPRX1_ENST00000543508.1_Silent_p.V388V			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	398						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GATTTTCATTCACAGAGCCAC	0.522													37	109					0	0	0	0	T	48305074	C	T	48305074	2	4	496	1	0	0	0	0	0	0	0	1	16517	813	29	2		2	TPRX1	19	48305074	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	5491124	48305074	10823909	247	96418											
SHANK1	50944	broad.mit.edu	37	chr19	51218945	51218945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacttggccagctgcttctCatccaggttggtctgtttgt	5	15	10	11	0	2	0	1	0	2	0	4	0	3	0	2	3	3	4	2	3	1	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:51218945C>T	ENST00000293441.1	-	3	520	c.502G>A	c.(502-504)Gag>Aag	p.E168K	SHANK1_ENST00000391814.1_Missense_Mutation_p.E168K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E168K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	168					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTGCTTCTCATCCAGGTTG	0.542													39	159					0	0	0	0	T	51218945	C	T	51218945	3	4	496	1	0	0	0	0	1	0	0	0	14352	835	29	2	6067	2	SHANK1	19	51218945	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	2913871	51218945	7910038	248	96419											
SHANK1	50944	broad.mit.edu	37	chr19	51218960	51218960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcatccaggttggtctGtttgtaaactcgggtcttgt	5	17	10	9	1	3	0	1	0	3	0	6	0	4	0	1	3	1	3	1	3	2	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:51218960G>T	ENST00000293441.1	-	3	505	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	SHANK1_ENST00000391814.1_Missense_Mutation_p.Q163K|SHANK1_ENST00000359082.3_Missense_Mutation_p.Q163K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	163					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGTTGGTCTGTTTGTAAACT	0.552													41	147					5.78141e-17	6.83971e-17	1	0	T	51218960	G	T	51218960	3	4	496	1	0	0	0	0	1	0	0	0	14352	1386	48	4	6082	4	SHANK1	19	51218960	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	15	51218960	7910023	249	96420											
ZNF83	55769	broad.mit.edu	37	chr19	53116946	53116946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccttgccacactcattaCatttgtaaggtttctctcca	10	14	5	12	0	2	1	1	0	1	1	4	1	3	1	3	1	2	2	3	1	2	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:53116946C>T	ENST00000597597.1	-	2	3125	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.C291Y|ZNF83_ENST00000544146.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.C291Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000391789.4_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	291						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACACTCATTACATTTGTAAGG	0.403													15	212					0	0	0	0	T	53116946	C	T	53116946	3	4	496	1	0	0	0	0	1	0	0	0	18276	478	17	4	682	4	ZNF83	19	53116946	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1897986	53116946	6012037	250	96421											
LILRB5	10990	broad.mit.edu	37	chr19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G																															gtaaggaacgtggtgggggtINSggggaggcctgggggcctgg																								rs11375503		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)cccfs	p.P599fs	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													7	9	---	---	---	---					G	54754839	-	G	54754838	7	5	496	1	0	1	1	0	0	0	0	0	8848	1711	59	0		0	LILRB5	19	54754838	Frame_Shift_Ins	INS	-	TCGA-UF-A7J9-01A-12D-A34J-08	1637892	54754838	4374145	251	96422											
LILRB5	10990	broad.mit.edu	37	chr19	54760128	54760128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagtccgtccagtgtatCacactggagggtcacatttc	10	10	11	10	1	2	1	2	0	0	1	5	3	4	2	2	2	0	1	2	2	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:54760128C>G	ENST00000450632.1	-	4	483	c.406G>C	c.(406-408)Gat>Cat	p.D136H	LILRB5_ENST00000316219.5_Missense_Mutation_p.D145H|LILRB5_ENST00000449561.2_Missense_Mutation_p.D145H|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	145	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGTGTATCACACTGGAGG	0.547													26	74					0	0	0	0	G	54760128	C	G	54760128	3	3	496	1	0	0	0	0	1	0	0	0	8848	826	29	2	1382	2	LILRB5	19	54760128	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	5290	54760128	4368855	252	96423											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704310	56704310	+	Missense_Mutation	SNP	T	T	A																															gtgccaagtctcagggttccTgtcgtgatttccaagttgag																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:56704310T>A	ENST00000586855.2	-	2	425	c.112A>T	c.(112-114)Agg>Tgg	p.R38W	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R38W			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGGGTTCCTGTCGTGATTT	0.562													8	44					0	0	0	0	A	56704310	T	A	56704310	3	1	496	1	0	0	0	0	1	0	0	0	18330	1579	55	5	1391	5	ZSCAN5B	19	56704310	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	1944182	56704310	2424673	253	96424	1150	2									
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704314	56704314	+	Silent	SNP	G	G	A																															caagtctcagggttcctgtcGtgatttccaagttgagtttc																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:56704314G>A	ENST00000586855.2	-	2	421	c.108C>T	c.(106-108)caC>caT	p.H36H	ZSCAN5B_ENST00000358992.3_Silent_p.H36H			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	36					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTTCCTGTCGTGATTTCCAA	0.562													8	40					0	0	0	0	A	56704314	G	A	56704314	2	1	496	1	0	0	0	0	0	0	0	1	18330	1136	40	1		1	ZSCAN5B	19	56704314	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4	56704314	2424669	254	96425	1150	2									
ZNF135	7694	broad.mit.edu	37	chr19	58573073	58573073	+	Splice_Site	DEL	G	G	-																															ttcaggcttctggtctctgtGggtaaggccacacccatgtc																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:58573073delG	ENST00000506786.1	+	3	587	c.34_splice	c.e3+1	p.V11_splice	ZNF135_ENST00000313434.5_Splice_Site_p.V53_splice|ZNF135_ENST00000401053.4_Splice_Site_p.V65_splice|ZNF135_ENST00000511556.1_Splice_Site_p.V53_splice|ZNF135_ENST00000439855.2_Splice_Site_p.V53_splice|ZNF135_ENST00000359978.6_Splice_Site_p.V65_splice			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	53					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TGGTCTCTGTGGGTAAGGCCA	0.507													41	148	---	---	---	---					-	58573073	G	-	58573073	8	5	496	1	0	1	0	1	0	0	1	0	17820	1362	47	0	238	0	ZNF135	19	58573073	Splice_Site	DEL	G	TCGA-UF-A7J9-01A-12D-A34J-08	1868759	58573073	555910	255	96426											
UBE2M	9040	broad.mit.edu	37	chr19	59067742	59067742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtaaggactggcttccagtCctctctgtggacagagagca	9	9	12	11	1	1	1	0	0	1	1	4	4	3	3	2	3	1	3	2	3	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:59067742C>T	ENST00000253023.3	-	5	930	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	118					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCTTCCAGTCCTCTCTGTGG	0.542													9	44					0	0	0	0	T	59067742	C	T	59067742	3	4	496	1	0	0	0	0	1	0	0	0	16961	855	30	2	207	2	UBE2M	19	59067742	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	494669	59067742	61241	256	96427											
MACROD2	140733	broad.mit.edu	37	chr20	15412049	15412049	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttgtggtttattcacaGgcatttccctgcatctcaac	8	17	6	10	0	2	0	2	0	1	0	4	0	3	0	1	2	2	3	1	2	2	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:15412049G>A	ENST00000217246.4	+	7	935		c.e7-1		MACROD2_ENST00000310348.4_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2											breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTTATTCACAGGCATTTCCCT	0.333													40	132					0	0	0	0	A	15412049	G	A	15412049	5	1	496	1	0	0	0	0	0	0	1	0	9211	1014	35	4	566	4	MACROD2	20	15412049	Splice_Site	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		15412049	47613471	257	96428											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493302	20493302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctggatatactcatcctCttgagcattttggcgcaaaa	11	13	7	10	1	3	1	1	1	2	0	4	2	4	2	1	2	2	2	1	2	4	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:20493302C>G	ENST00000202677.6	-	32	4853	c.4711G>C	c.(4711-4713)Gag>Cag	p.E1571Q		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1571					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TACTCATCCTCTTGAGCATTT	0.468													21	61					0	0	0	0	G	20493302	C	G	20493302	3	3	496	1	0	0	0	0	1	0	0	0	13096	922	32	2	942	2	RALGAPA2	20	20493302	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	5081253	20493302	42532218	258	96429											
XKR7	343702	broad.mit.edu	37	chr20	30556151	30556151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgagctgcgggactgctGctgggtgctgtgcgcgctgc	3	9	17	12	4	0	0	0	0	0	0	0	2	0	1	0	2	8	5	0	2	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:30556151G>T	ENST00000217299.3	+	1	347	c.173G>T	c.(172-174)tGc>tTc	p.C58F		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	58						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGGACTGCTGCTGGGTGCTG	0.751													9	30					0.00448238	0.00460103	1	0	T	30556151	G	T	30556151	3	4	496	1	0	0	0	0	1	0	0	0	17532	1319	46	4	175	4	XKR7	20	30556151	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	10062849	30556151	32469369	259	96430											
DHX35	60625	broad.mit.edu	37	chr20	37657063	37657063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggctgcctatgtaggtGacccggatctggttctgagg	5	13	15	8	1	2	2	0	2	2	0	2	3	2	3	2	5	1	4	2	5	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:37657063G>T	ENST00000252011.3	+	19	1837	c.1804G>T	c.(1804-1806)Gac>Tac	p.D602Y	DHX35_ENST00000373323.4_Missense_Mutation_p.D571Y|DHX35_ENST00000373325.2_Missense_Mutation_p.D602Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	602						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTATGTAGGTGACCCGGATCT	0.552													33	114					4.16155e-14	4.84126e-14	1	0	T	37657063	G	T	37657063	3	4	496	1	0	0	0	0	1	0	0	0	4545	1290	45	2	1878	2	DHX35	20	37657063	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	7100912	37657063	25368457	260	96431											
SLC13A3	64849	broad.mit.edu	37	chr20	45224904	45224904	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggaagcccttccagatgTtccgacgatattcatcctcc	9	11	8	13	2	1	2	1	1	0	1	5	5	5	3	5	1	1	1	5	1	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:45224904T>A	ENST00000279027.4	-	5	704	c.686A>T	c.(685-687)aAc>aTc	p.N229I	SLC13A3_ENST00000495082.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000372121.1_Missense_Mutation_p.T207S|SLC13A3_ENST00000290317.5_Missense_Mutation_p.N182I|SLC13A3_ENST00000472148.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000396360.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T207S	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	229						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTTCCAGATGTTCCGACGATA	0.552													31	102					0	0	0	0	A	45224904	T	A	45224904	3	1	496	1	0	0	0	0	1	0	0	0	14481	1725	60	5	1158	5	SLC13A3	20	45224904	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	7567841	45224904	17800616	261	96432											
KCNG1	3755	broad.mit.edu	37	chr20	49620923	49620923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtcggccatctcgttctCgatgacgtagagcaggggcg	6	9	15	11	5	2	2	0	1	2	1	5	3	2	2	1	3	1	4	1	3	1	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:49620923C>T	ENST00000371571.4	-	3	1480	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	399						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATCTCGTTCTCGATGACGTAG	0.667													16	48					0	0	0	0	T	49620923	C	T	49620923	3	4	496	1	0	0	0	0	1	0	0	0	8080	893	31	1	350	1	KCNG1	20	49620923	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	4396019	49620923	13404597	262	96433											
ZBP1	81030	broad.mit.edu	37	chr20	56186819	56186819	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgtgggcagggccctCggacgggacgccgtggagcc	5	4	21	11	4	0	0	0	0	0	0	1	4	0	4	3	7	1	1	3	7	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:56186819C>A	ENST00000340462.4	-	5	1049	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ZBP1_ENST00000343535.4_Nonsense_Mutation_p.E280*|ZBP1_ENST00000395822.3_Nonsense_Mutation_p.E205*|ZBP1_ENST00000371173.3_Nonsense_Mutation_p.E280*			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	280						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCAGGGCCCTCGGACGGGACG	0.647													7	14					0.000442599	0.000461096	1	0	A	56186819	C	A	56186819	4	1	496	1	0	0	0	0	0	1	0	0	17616	893	31	3	463	3	ZBP1	20	56186819	Nonsense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	6565896	56186819	6838701	263	96434											
CHRNA4	1137	broad.mit.edu	37	chr20	61978159	61978159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggcagacgatgatgaaCatccagaggaagatgcggtc	14	5	14	8	2	0	5	0	2	0	3	2	7	1	6	1	3	3	2	1	3	2	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:61978159C>G	ENST00000370263.4	-	6	2036	c.1815G>C	c.(1813-1815)atG>atC	p.M605I	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)	605					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			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)	CGATGATGAACATCCAGAGGA	0.662													18	61					0	0	0	0	G	61978159	C	G	61978159	3	3	496	1	0	0	0	0	1	0	0	0	3414	478	17	4	72	4	CHRNA4	20	61978159	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	5791340	61978159	1047361	264	96435											
BAGE2	85319	broad.mit.edu	37	chr21	11049462	11049462	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttacttgcagttctggCacactttgcactcaggacat	11	12	7	11	0	2	0	1	0	1	0	2	1	2	1	0	2	4	4	0	2	2	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11049462C>T	ENST00000470054.1	-	0	646									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)		GCAGTTCTGGCACACTTTGCA	0.408													11	333					0	0	0	0	T	11049462	C	T	11049462	1	4	496	0	1	0	0	0	0	0	0	0	1296	725	25	4		4	BAGE2	21	11049462	RNA	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08		11049462	37080433	265	96436											
BAGE2	85319	broad.mit.edu	37	chr21	11058303	11058303	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgatagtggctccaaaGtgcttacaaaatgcacatcg	13	11	8	9	1	0	1	0	1	0	0	2	1	1	1	1	1	3	3	1	1	5	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11058303G>T	ENST00000470054.1	-	0	344									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)		TGGCTCCAAAGTGCTTACAAA	0.388													11	343					0.00010058	0.000105413	1	0	T	11058303	G	T	11058303	1	4	496	0	1	0	0	0	0	0	0	0	1296	1029	36	4		4	BAGE2	21	11058303	RNA	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	8841	11058303	37071592	266	96437											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													6	161					0	0	0	0	C	11058353	T	C	11058353	1	2	496	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	50	11058353	37071542	267	96438											
TIAM1	7074	broad.mit.edu	37	chr21	32595868	32595868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagcggaaacgaaacaggtCcatttggaactgctcgagat	14	7	11	9	3	0	1	0	0	0	1	2	5	1	3	1	3	5	1	1	3	3	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:32595868C>T	ENST00000286827.3	-	9	2320	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.D617N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	617					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGAAACAGGTCCATTTGGAAC	0.458													14	87					0	0	0	0	T	32595868	C	T	32595868	3	4	496	1	0	0	0	0	1	0	0	0	15984	855	30	2	3010	2	TIAM1	21	32595868	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	21537515	32595868	15534027	268	96439											
DSCAM	1826	broad.mit.edu	37	chr21	41457578	41457578	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagatccccagttgttattGgcaatgcagctgtaatagcc	10	12	9	10	0	1	1	1	0	0	1	2	1	2	1	3	1	3	6	3	1	4	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:41457578G>T	ENST00000400454.1	-	23	4560	c.4083C>A	c.(4081-4083)gcC>gcA	p.A1361A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1361	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTTGTTATTGGCAATGCAGC	0.393													32	99					1.36161e-19	1.62741e-19	1	0	T	41457578	G	T	41457578	2	4	496	1	0	0	0	0	0	0	0	1	4804	1335	47	4		4	DSCAM	21	41457578	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	8861710	41457578	6672317	269	96440											
ABCG1	9619	broad.mit.edu	37	chr21	43714735	43714735	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcgacaccatccccacGtacctacagtggatgtccta	10	9	7	15	2	0	0	0	0	0	0	3	2	2	1	5	1	3	2	5	1	3	4	rs149806632		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:43714735G>T	ENST00000398437.1	+	15	2359	c.2211G>T	c.(2209-2211)acG>acT	p.T737T	ABCG1_ENST00000361802.2_Silent_p.T591T|ABCG1_ENST00000340588.4_Silent_p.T699T|ABCG1_ENST00000343687.3_Silent_p.T590T|ABCG1_ENST00000398449.3_Silent_p.T579T|ABCG1_ENST00000347800.2_Silent_p.T576T|ABCG1_ENST00000398457.2_Silent_p.T581T|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	591					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATCCCCACGTACCTACAGT	0.622													24	45					7.92952e-12	8.956e-12	1	0	T	43714735	G	T	43714735	2	4	496	1	0	0	0	0	0	0	0	1	68	1132	40	3		3	ABCG1	21	43714735	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2257157	43714735	4415160	270	96441											
PFKL	5211	broad.mit.edu	37	chr21	45746601	45746601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccccgtcctgcacaggcaCcgcatgccacgggagcagtg	8	5	12	16	3	0	0	0	0	0	0	2	1	2	1	5	2	3	4	5	2	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:45746601C>T	ENST00000403390.1	+	23	2340	c.2340C>T	c.(2338-2340)caC>caT	p.H780H	PFKL_ENST00000349048.4_Silent_p.H733H			P17858	K6PL_HUMAN	phosphofructokinase, liver	733					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGCACAGGCACCGCATGCCAC	0.672													5	10					0	0	0	0	T	45746601	C	T	45746601	2	4	496	1	0	0	0	0	0	0	0	1	11836	506	18	4		4	PFKL	21	45746601	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	2031866	45746601	2383294	271	96442											
MED15	51586	broad.mit.edu	37	chr22	20909266	20909266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgactggcggacctgctgcGggagccgctggaattggcat	6	8	16	11	3	0	1	0	1	0	0	0	4	0	4	2	5	3	3	2	5	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:20909266G>A	ENST00000263205.7	+	5	351	c.282G>A	c.(280-282)gcG>gcA	p.A94A	MED15_ENST00000541476.1_Silent_p.A68A|MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Silent_p.A68A|MED15_ENST00000292733.7_Silent_p.A94A	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	94					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GACCTGCTGCGGGAGCCGCTG	0.622													42	62					0	0	0	0	A	20909266	G	A	20909266	2	1	496	1	0	0	0	0	0	0	0	1	9502	1103	39	1		1	MED15	22	20909266	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		20909266	30395300	272	96443											
SGSM1	129049	broad.mit.edu	37	chr22	25294004	25294004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattggaggagaaacagccCaagatccccaatgggaacct	15	5	11	10	0	0	3	0	0	0	3	1	6	1	5	4	3	3	0	4	3	4	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:25294004C>T	ENST00000400358.4	+	19	2145	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P	SGSM1_ENST00000400359.4_Silent_p.P751P	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	751	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGAAACAGCCCAAGATCCCCA	0.557													17	30					0	0	0	0	T	25294004	C	T	25294004	2	4	496	1	0	0	0	0	0	0	0	1	14309	581	21	4		4	SGSM1	22	25294004	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	4384738	25294004	26010562	273	96444											
ZNRF3	84133	broad.mit.edu	37	chr22	29444377	29444377	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccctctctccctgcccagGagctgcgggtcatcccctgt	3	10	9	19	1	2	0	1	0	1	0	6	1	5	1	6	2	3	1	6	2	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:29444377G>A	ENST00000544604.2	+	7	1088	c.912_splice	c.e7-1	p.E305_splice	ZNRF3_ENST00000406323.3_Splice_Site_p.E205_splice|ZNRF3_ENST00000402174.1_Splice_Site_p.E205_splice|ZNRF3_ENST00000332811.4_Splice_Site_p.E205_splice	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	305						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCCTGCCCAGGAGCTGCGGGT	0.617													11	55					0	0	0	0	A	29444377	G	A	29444377	5	1	496	1	0	0	0	0	0	0	1	0	18306	1188	41	2	635	2	ZNRF3	22	29444377	Splice_Site	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4150373	29444377	21860189	274	96445											
SF3A1	10291	broad.mit.edu	37	chr22	30736775	30736775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggggtgggggcactttCtgcccttcttcttcatcatc	3	15	11	12	0	6	0	2	0	4	0	7	0	6	0	1	4	1	1	1	4	0	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:30736775C>T	ENST00000439242.1	-	8	1034	c.903G>A	c.(901-903)caG>caA	p.Q301Q	SF3A1_ENST00000215793.7_Silent_p.Q366Q	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	366					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGGGCACTTTCTGCCCTTCTT	0.572													20	118					0	0	0	0	T	30736775	C	T	30736775	2	4	496	1	0	0	0	0	0	0	0	1	14233	912	32	2		2	SF3A1	22	30736775	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1292398	30736775	20567791	275	96446											
ELFN2	114794	broad.mit.edu	37	chr22	37769986	37769986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggtggagatctctgcagccGagccctggccgttctcgagg	5	9	15	12	3	2	1	0	0	2	1	4	4	2	1	3	4	3	2	3	4	0	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:37769986G>C	ENST00000402918.1	-	3	2374	c.1589C>G	c.(1588-1590)tCg>tGg	p.S530W	ELFN2_ENST00000349653.3_Missense_Mutation_p.S530W|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	530						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCTGCAGCCGAGCCCTGGCC	0.607													102	133					0	0	0	0	C	37769986	G	C	37769986	3	2	496	1	0	0	0	0	1	0	0	0	5096	1059	37	3	877	3	ELFN2	22	37769986	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	7033211	37769986	13534580	276	96447											
MEI1	150365	broad.mit.edu	37	chr22	42128271	42128271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgaggcagtggtgaggagCctgcagggaagcctgaagat	11	6	17	7	1	0	3	0	2	0	1	1	6	0	5	2	4	3	2	2	4	2	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:42128271C>A	ENST00000401548.3	+	10	1159	c.1119C>A	c.(1117-1119)agC>agA	p.S373R	MEI1_ENST00000300398.4_De_novo_Start_InFrame|MEI1_ENST00000400107.1_De_novo_Start_InFrame|MEI1_ENST00000540833.1_Missense_Mutation_p.S113R	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	373							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGTGAGGAGCCTGCAGGGAA	0.552													9	18					0.00829132	0.00846102	1	0	A	42128271	C	A	42128271	3	1	496	1	0	0	0	0	1	0	0	0	9534	738	26	4	1157	4	MEI1	22	42128271	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	4358285	42128271	9176295	277	96448											
WBP2NL	164684	broad.mit.edu	37	chr22	42415411	42415411	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacaggaacattgtttctCacttcataccgggtaatttc	12	13	7	9	1	2	1	2	0	1	1	4	2	2	2	1	2	2	2	1	2	4	6			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:42415411C>G	ENST00000328823.9	+	2	190	c.159C>G	c.(157-159)ctC>ctG	p.L53L		NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	53	GRAM.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CATTGTTTCTCACTTCATACC	0.388													37	97					0	0	0	0	G	42415411	C	G	42415411	2	3	496	1	0	0	0	0	0	0	0	1	17356	813	29	2		2	WBP2NL	22	42415411	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	287140	42415411	8889155	278	96449											
CELSR1	9620	broad.mit.edu	37	chr22	46773075	46773075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcatgcggaccaggctcagGaggacgaaggccaccagcag	12	2	15	12	2	1	0	1	0	0	0	1	4	1	3	3	5	3	3	3	5	1	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:46773075G>T	ENST00000262738.3	-	24	7466	c.7467C>A	c.(7465-7467)ctC>ctA	p.L2489L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2489					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCAGGCTCAGGAGGACGAAGG	0.602													25	34					1.1804e-14	1.37779e-14	1	0	T	46773075	G	T	46773075	2	4	496	1	0	0	0	0	0	0	0	1	3250	1161	41	2		2	CELSR1	22	46773075	Silent	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	4357664	46773075	4531491	279	96450											
ZBED4	9889	broad.mit.edu	37	chr22	50278751	50278751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccgagtgtcggtactgcGgctgtgccatcagccggggg	5	7	18	11	4	1	0	1	0	0	0	2	1	1	0	3	5	4	2	3	5	1	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:50278751G>A	ENST00000216268.4	+	2	1918	c.1441G>A	c.(1441-1443)Ggc>Agc	p.G481S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	481						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGTACTGCGGCTGTGCCAT	0.587													47	242					0	0	0	0	A	50278751	G	A	50278751	3	1	496	1	0	0	0	0	1	0	0	0	17615	1116	39	1	1443	1	ZBED4	22	50278751	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	3505676	50278751	1025815	280	96451											
SHROOM4	57477	broad.mit.edu	37	chrX	50378316	50378316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtggacgggatgacatctGagagctgggggtcaggtggc	7	8	19	7	1	2	2	1	2	1	1	2	5	2	4	0	6	1	1	0	6	0	0			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:50378316G>C	ENST00000376020.2	-	4	782	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q137E|SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q253E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	253					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GATGACATCTGAGAGCTGGGG	0.657													5	5					0	0	0	0	C	50378316	G	C	50378316	3	2	496	1	0	0	0	0	1	0	0	0	14384	1299	45	2	3748	2	SHROOM4	23	50378316	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08		50378316	104892244	281	96452											
HUWE1	10075	broad.mit.edu	37	chrX	53641650	53641650	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgccttctggattgaTggcttctgacagatgtattt	7	16	9	9	0	3	3	0	2	3	1	3	4	3	4	2	2	1	2	2	2	1	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:53641650T>C	ENST00000342160.3	-	22	2563	c.2106A>G	c.(2104-2106)ccA>ccG	p.P702P	HUWE1_ENST00000218328.8_Silent_p.P702P|HUWE1_ENST00000262854.6_Silent_p.P702P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	702					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTGGATTGATGGCTTCTGAC	0.453													34	22					0	0	0	0	C	53641650	T	C	53641650	2	2	496	1	0	0	0	0	0	0	0	1	7514	1451	51	5		5	HUWE1	23	53641650	Silent	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	3263334	53641650	101628910	282	96453											
APEX2	27301	broad.mit.edu	37	chrX	55033053	55033053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttcatcgatagctacCgctgcttccaaccaaagcag	10	8	8	15	2	1	0	1	0	0	0	3	1	2	0	4	1	5	4	4	1	4	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:55033053C>T	ENST00000374987.3	+	6	808	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	248					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CGATAGCTACCGCTGCTTCCA	0.587								Other BER factors					9	8					0	0	0	0	T	55033053	C	T	55033053	3	4	496	1	0	0	0	0	1	0	0	0	771	652	23	1	764	1	APEX2	23	55033053	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1391403	55033053	100237507	283	96454											
FAAH2	158584	broad.mit.edu	37	chrX	57337083	57337083	+	Missense_Mutation	SNP	G	G	T																															caaaagcttgcagagaagcaGgaagatgaagccaccctgga																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:57337083G>T	ENST00000374900.4	+	3	453	c.333G>T	c.(331-333)caG>caT	p.Q111H		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	111						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAGAGAAGCAGGAAGATGAAG	0.408										HNSCC(52;0.14)			21	24					0.00188189	0.00194314	1	0	T	57337083	G	T	57337083	3	4	496	1	0	0	0	0	1	0	0	0	5395	991	35	4	343	4	FAAH2	23	57337083	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	2304030	57337083	97933477	284	96455	1151	2									
FAAH2	158584	broad.mit.edu	37	chrX	57337084	57337084	+	Nonsense_Mutation	SNP	G	G	T																															aaaagcttgcagagaagcagGaagatgaagccaccctggaa																										TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:57337084G>T	ENST00000374900.4	+	3	454	c.334G>T	c.(334-336)Gaa>Taa	p.E112*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	112						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGAGAAGCAGGAAGATGAAGC	0.413										HNSCC(52;0.14)			20	24					0.00152264	0.00157686	1	0	T	57337084	G	T	57337084	4	4	496	1	0	0	0	0	0	1	0	0	5395	1175	41	2	344	2	FAAH2	23	57337084	Nonsense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	1	57337084	97933476	285	96456	1151	2									
HEPH	9843	broad.mit.edu	37	chrX	65413476	65413476	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagataggcatcttggaatCctgggtgaggaatttttaaa	13	12	12	4	0	1	2	0	1	1	1	2	5	2	4	1	4	0	1	1	4	6	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:65413476C>A	ENST00000519389.1	+	8	1706	c.1527C>A	c.(1525-1527)atC>atA	p.I509I	HEPH_ENST00000336279.5_Silent_p.I188I|HEPH_ENST00000441993.2_Silent_p.I458I|HEPH_ENST00000419594.1_Silent_p.I458I|HEPH_ENST00000343002.2_Silent_p.I455I|HEPH_ENST00000374727.3_Silent_p.I458I			Q9BQS7	HEPH_HUMAN	hephaestin	455	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCTTGGAATCCTGGGTGAGG	0.423													22	14					5.26018e-13	6.03882e-13	1	0	A	65413476	C	A	65413476	2	1	496	1	0	0	0	0	0	0	0	1	7104	845	30	2		2	HEPH	23	65413476	Silent	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	8076392	65413476	89857084	286	96457											
PGK1	5230	broad.mit.edu	37	chrX	77365394	77365394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgttcctatgaagaacaaCcagataacaaacaaccagag	20	6	6	9	0	0	4	0	1	0	3	1	4	1	4	3	0	5	1	3	0	8	3			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:77365394C>G	ENST00000373316.4	+	2	263	c.96C>G	c.(94-96)aaC>aaG	p.N32K	PGK1_ENST00000537456.1_Missense_Mutation_p.N4K|PGK1_ENST00000442431.1_Missense_Mutation_p.N32K	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	32					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TGAAGAACAACCAGATAACAA	0.378													9	112					0	0	0	0	G	77365394	C	G	77365394	3	3	496	1	0	0	0	0	1	0	0	0	11862	506	18	4	102	4	PGK1	23	77365394	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	11951918	77365394	77905166	287	96458											
FAM133A	286499	broad.mit.edu	37	chrX	92964537	92964537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctaaatcgaccaagacccaCctgggaagaagtaaagaaac	18	5	8	10	1	1	3	0	0	1	3	2	5	1	4	3	1	1	1	3	1	8	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:92964537C>T	ENST00000538690.1	+	5	680	c.119C>T	c.(118-120)aCc>aTc	p.T40I	FAM133A_ENST00000322139.4_Missense_Mutation_p.T40I|FAM133A_ENST00000355813.5_Missense_Mutation_p.T40I|FAM133A_ENST00000332647.4_Missense_Mutation_p.T40I	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	40										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						CCAAGACCCACCTGGGAAGAA	0.378													22	19					0	0	0	0	T	92964537	C	T	92964537	3	4	496	1	0	0	0	0	1	0	0	0	5484	507	18	4	121	4	FAM133A	23	92964537	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	15599143	92964537	62306023	288	96459											
NXF5	55998	broad.mit.edu	37	chrX	101096680	101096680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcataaatcttataactgAcatccttcaatgcagaggca	15	11	5	10	0	3	2	2	1	1	1	4	2	4	2	1	1	2	2	1	1	5	4			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:101096680A>G	ENST00000537026.1	-	5	565	c.206T>C	c.(205-207)gTc>gCc	p.V69A	NXF5_ENST00000361708.2_Missense_Mutation_p.V69A|NXF5_ENST00000473265.2_Missense_Mutation_p.V69A	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	69	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTTATAACTGACATCCTTCAA	0.498													8	158					0	0	0	0	G	101096680	A	G	101096680	3	3	496	1	0	0	0	0	1	0	0	0	10857	275	10	5	939	5	NXF5	23	101096680	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	8132143	101096680	54173880	289	96460											
GRIA3	2892	broad.mit.edu	37	chrX	122528858	122528858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaaagagtcatgcatgggGgagccaacattacaggtttc	12	9	13	7	0	1	1	1	0	0	1	2	3	1	3	1	4	4	2	1	4	3	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:122528858G>A	ENST00000264357.5	+	6	1082	c.790G>A	c.(790-792)Gga>Aga	p.G264R	GRIA3_ENST00000371251.1_Missense_Mutation_p.G264R|GRIA3_ENST00000371256.5_Missense_Mutation_p.G264R|GRIA3_ENST00000542149.1_Missense_Mutation_p.G264R|GRIA3_ENST00000541091.1_Missense_Mutation_p.G248R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	264					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CATGCATGGGGGAGCCAACAT	0.428													50	49					0	0	0	0	A	122528858	G	A	122528858	3	1	496	1	0	0	0	0	1	0	0	0	6819	1233	43	4	812	4	GRIA3	23	122528858	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	21432178	122528858	32741702	290	96461											
GPR119	139760	broad.mit.edu	37	chrX	129518496	129518496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggccacaattcctggccGagagaaagaggaggaatgag	13	5	15	8	1	0	3	0	1	0	2	1	7	1	5	3	4	0	0	3	4	3	1	rs5975187	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:129518496G>A	ENST00000276218.2	-	1	1015	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	309			S -> L (in dbSNP:rs5975187).			integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						ATTCCTGGCCGAGAGAAAGAG	0.537													35	28					0	0	0	0	A	129518496	G	A	129518496	3	1	496	1	0	0	0	0	1	0	0	0	6683	1059	37	1	85	1	GPR119	23	129518496	Missense_Mutation	SNP	G	TCGA-UF-A7J9-01A-12D-A34J-08	6989638	129518496	25752064	291	96462											
PLAC1	10761	broad.mit.edu	37	chrX	133700082	133700082	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgaggatcacatggAcccaatcatatcatctgtgt	13	10	7	11	0	4	1	3	1	1	0	4	3	4	3	2	2	1	0	2	2	3	1			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:133700082A>T	ENST00000359237.4	-	3	916	c.631T>A	c.(631-633)Tcc>Acc	p.S211T	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	211					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GATCACATGGACCCAATCATA	0.438													23	37					0	0	0	0	T	133700082	A	T	133700082	3	4	496	1	0	0	0	0	1	0	0	0	12084	275	10	5	11	5	PLAC1	23	133700082	Missense_Mutation	SNP	A	TCGA-UF-A7J9-01A-12D-A34J-08	4181586	133700082	21570478	292	96463											
IDS	3423	broad.mit.edu	37	chrX	148571967	148571967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagtagctctggcggattTtccgctgcaaattgaaaaaa	14	10	9	8	2	1	1	0	1	1	0	2	2	2	2	1	2	2	4	1	2	6	4	rs113993953	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:148571967T>C	ENST00000340855.6	-	7	1093	c.884A>G	c.(883-885)aAa>aGa	p.K295R	IDS_ENST00000541269.1_Missense_Mutation_p.K84R|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.K295R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	295						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGCGGATTTTCCGCTGCAA	0.458													37	23					0	0	0	0	C	148571967	T	C	148571967	3	2	496	1	0	0	0	0	1	0	0	0	7556	1841	64	5	810	5	IDS	23	148571967	Missense_Mutation	SNP	T	TCGA-UF-A7J9-01A-12D-A34J-08	14871885	148571967	6698593	293	96464											
GPR50	9248	broad.mit.edu	37	chrX	150349599	150349599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctaccagccatgctgagcCcaccactgctgactatccca	10	7	7	17	0	0	2	0	2	0	0	1	2	1	2	5	0	6	3	5	0	2	2			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:150349599C>T	ENST00000218316.3	+	2	1613	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	515	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCTGAGCCCACCACTGCT	0.612													51	55					0	0	0	0	T	150349599	C	T	150349599	3	4	496	1	0	0	0	0	1	0	0	0	6746	623	22	4	1550	4	GPR50	23	150349599	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	1777632	150349599	4920961	294	96465											
G6PD	2539	broad.mit.edu	37	chrX	153760789	153760789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgtagggcaccttgtatCtgttgccgtaggtcaggtcc	5	13	12	11	1	3	0	1	0	2	0	4	0	4	0	3	3	1	5	3	3	3	5			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:153760789C>G	ENST00000393562.2	-	10	1753	c.1370G>C	c.(1369-1371)aGa>aCa	p.R457T	G6PD_ENST00000393564.2_Missense_Mutation_p.R427T|G6PD_ENST00000369620.2_Missense_Mutation_p.R473T	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	427					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTTGTATCTGTTGCCGTA	0.612													86	86					0	0	0	0	G	153760789	C	G	153760789	3	3	496	1	0	0	0	0	1	0	0	0	6194	913	32	2	283	2	G6PD	23	153760789	Missense_Mutation	SNP	C	TCGA-UF-A7J9-01A-12D-A34J-08	3411190	153760789	1509771	295	96466											
CCDC27	148870	broad.mit.edu	37	chr1	3670730	3670730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccggcttcatgtccaaaatgGaacttcgaagggtcttcccc	9	10	9	13	2	2	0	1	0	1	0	5	2	4	1	4	3	1	1	4	3	4	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:3670730G>C	ENST00000294600.2	+	2	451	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	123										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCCAAAATGGAACTTCGAAG	0.607													6	216					0	0	0	0	C	3670730	G	C	3670730	3	2	497	1	0	0	0	0	1	0	0	0	2827	1175	41	2	373	2	CCDC27	1	3670730	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		3670730	245579891	1	96467											
VPS13D	55187	broad.mit.edu	37	chr1	12337170	12337170	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatccataggctgaacttActgcttcttcggacagtggg	10	11	11	9	1	1	1	0	1	1	0	3	3	2	2	1	3	3	2	1	3	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:12337170A>T	ENST00000358136.3	+	19	3655	c.3525A>T	c.(3523-3525)ttA>ttT	p.L1175F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1175F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1175					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCTGAACTTACTGCTTCTTC	0.403													34	130					0	0	0	0	T	12337170	A	T	12337170	3	4	497	1	0	0	0	0	1	0	0	0	17288	388	14	5	3595	5	VPS13D	1	12337170	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	8666440	12337170	236913451	2	96468											
MACF1	23499	broad.mit.edu	37	chr1	39854292	39854292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagtgggtagtggggaccGaagtggaaatcatcaaccaa	13	7	13	8	1	2	0	2	0	0	0	3	3	3	2	3	4	1	1	3	4	5	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:39854292G>A	ENST00000564288.1	+	58	16555	c.15778G>A	c.(15778-15780)Gaa>Aaa	p.E5260K	MACF1_ENST00000317713.7_Missense_Mutation_p.E3198K|MACF1_ENST00000539005.1_Missense_Mutation_p.E3177K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3198K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3700K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3198K|MACF1_ENST00000567887.1_Missense_Mutation_p.E5297K|MACF1_ENST00000372915.3_Missense_Mutation_p.E5265K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5265					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTGGGGACCGAAGTGGAAAT	0.428													11	146					0	0	0	0	A	39854292	G	A	39854292	3	1	497	1	0	0	0	0	1	0	0	0	9209	1059	37	1	15953	1	MACF1	1	39854292	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	27517122	39854292	209396329	3	96469											
GBP7	388646	broad.mit.edu	37	chr1	89618015	89618015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggtgtccatctaacttCagctccagggtaaaatctcg	10	11	10	10	1	3	0	1	0	2	0	6	0	5	0	2	3	2	2	2	3	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89618015C>T	ENST00000294671.2	-	5	699	c.561G>A	c.(559-561)ctG>ctA	p.L187L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	187						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CATCTAACTTCAGCTCCAGGG	0.468													5	122					0	0	0	0	T	89618015	C	T	89618015	2	4	497	1	0	0	0	0	0	0	0	1	6328	813	29	2		2	GBP7	1	89618015	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	49763723	89618015	159632606	4	96470											
GBP5	115362	broad.mit.edu	37	chr1	89729475	89729475	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagttcttctgttttctGaatgaagagattatggcctc	8	17	8	8	0	4	3	1	2	3	1	5	4	4	3	1	1	0	2	1	1	3	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89729475G>A	ENST00000343435.5	-	9	1842	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Nonsense_Mutation_p.Q436*|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	436						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCTGTTTTCTGAATGAAGAGA	0.433													28	208					0	0	0	0	A	89729475	G	A	89729475	4	1	497	1	0	0	0	0	0	1	0	0	6326	1299	45	2	470	2	GBP5	1	89729475	Nonsense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	111460	89729475	159521146	5	96471											
GBP5	115362	broad.mit.edu	37	chr1	89729504	89729504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattatggcctcctggcttaGaataaattccctgcttcact	9	14	7	11	0	1	1	1	0	0	1	3	2	3	1	3	2	1	2	3	2	5	5	rs141794180	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89729504G>C	ENST00000343435.5	-	9	1813	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.S426C|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	426						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCCTGGCTTAGAATAAATTCC	0.423													22	231					0	0	0	0	C	89729504	G	C	89729504	3	2	497	1	0	0	0	0	1	0	0	0	6326	942	33	2	499	2	GBP5	1	89729504	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	29	89729504	159521117	6	96472											
KCNA10	3744	broad.mit.edu	37	chr1	111060290	111060290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagatgagcaaccccaactCccgcatggacgccttcagtg	11	6	10	14	2	1	2	1	1	0	1	2	4	2	3	4	1	3	2	4	1	3	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:111060290C>T	ENST00000369771.2	-	1	1507	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	374						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AACCCCAACTCCCGCATGGAC	0.552													8	106					0	0	0	0	T	111060290	C	T	111060290	3	4	497	1	0	0	0	0	1	0	0	0	8055	864	30	2	419	2	KCNA10	1	111060290	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	21330786	111060290	138190331	7	96473											
PTGFRN	5738	broad.mit.edu	37	chr1	117509829	117509829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatcgaatgtaccagactCaggtctcagacgcagggctg	10	8	12	11	2	2	2	2	0	1	2	4	3	2	2	1	2	1	4	1	2	3	2	rs140095202		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117509829C>G	ENST00000393203.2	+	6	2083	c.1936C>G	c.(1936-1938)Cag>Gag	p.Q646E	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	646	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTACCAGACTCAGGTCTCAGA	0.537													7	103					0	0	0	0	G	117509829	C	G	117509829	3	3	497	1	0	0	0	0	1	0	0	0	12830	827	29	2	1958	2	PTGFRN	1	117509829	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	6449539	117509829	131740792	8	96474											
TRIM45	80263	broad.mit.edu	37	chr1	117660854	117660854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcttggtgatgaggatctCcaagtctgagccgctggtca	7	11	12	11	1	4	3	1	3	3	0	5	4	4	4	3	3	1	1	3	3	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117660854C>G	ENST00000256649.4	-	2	1550	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	TRIM45_ENST00000369464.3_Missense_Mutation_p.E342Q|TRIM45_ENST00000369461.3_Missense_Mutation_p.E285Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	342						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		ATGAGGATCTCCAAGTCTGAG	0.532													18	97					0	0	0	0	G	117660854	C	G	117660854	3	3	497	1	0	0	0	0	1	0	0	0	16615	864	30	2	738	2	TRIM45	1	117660854	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	151025	117660854	131589767	9	96475											
TRIM45	80263	broad.mit.edu	37	chr1	117661121	117661121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctgagccagggcttcctCcagggcctccacgtggggct	5	8	14	14	1	1	1	0	1	1	0	4	2	4	1	5	4	1	2	5	4	0	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117661121C>T	ENST00000256649.4	-	2	1283	c.757G>A	c.(757-759)Gag>Aag	p.E253K	TRIM45_ENST00000369464.3_Missense_Mutation_p.E253K|TRIM45_ENST00000369461.3_Missense_Mutation_p.E196K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	253						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGGGCTTCCTCCAGGGCCTCC	0.567													9	57					0	0	0	0	T	117661121	C	T	117661121	3	4	497	1	0	0	0	0	1	0	0	0	16615	864	30	2	1005	2	TRIM45	1	117661121	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	267	117661121	131589500	10	96476											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879044	144879044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatccttacccaggccacGaggctgatctcagctcctca	8	8	8	17	1	2	1	2	1	1	0	5	2	4	1	5	2	2	2	5	2	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:144879044G>A	ENST00000369359.4	-	30	4852	c.4814C>T	c.(4813-4815)tCg>tTg	p.S1605L	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1605L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1425L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1469	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCAGGCCACGAGGCTGATCT	0.507			T	PDGFRB	MPD								13	286					0	0	0	0	A	144879044	G	A	144879044	3	1	497	1	0	0	0	0	1	0	0	0	11714	1059	37	1	2706	1	PDE4DIP	1	144879044	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	27217923	144879044	104371577	11	96477											
TCHH	7062	broad.mit.edu	37	chr1	152083709	152083709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcctctcttcctcctcctCgcgcttcagccgctgctcgc	2	11	8	20	4	2	0	1	0	1	0	8	1	5	0	5	0	3	3	5	0	0	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:152083709C>T	ENST00000368804.1	-	2	1983	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	662	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCCTCGCGCTTCAGC	0.667													7	146					0	0	0	0	T	152083709	C	T	152083709	3	4	497	1	0	0	0	0	1	0	0	0	15794	893	31	1	3851	1	TCHH	1	152083709	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	7204665	152083709	97166912	12	96478											
PEAR1	375033	broad.mit.edu	37	chr1	156873781	156873781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcggctggctggaactctCaaccccagtgatcccaatac	9	8	9	15	1	1	1	1	1	1	0	3	2	2	2	3	3	4	2	3	3	4	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:156873781C>T	ENST00000338302.3	+	3	288	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PEAR1_ENST00000292357.7_Silent_p.L21L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	21						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGAACTCTCAACCCCAGTG	0.622													5	108					0	0	0	0	T	156873781	C	T	156873781	2	4	497	1	0	0	0	0	0	0	0	1	11783	813	29	2		2	PEAR1	1	156873781	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	4790072	156873781	92376840	13	96479											
FCER1A	2205	broad.mit.edu	37	chr1	159272207	159272207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtagccttactgttctTcggtaagtagagattcaatt	9	16	10	6	1	2	1	1	0	1	1	3	2	2	1	1	1	2	4	1	1	5	8			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:159272207T>C	ENST00000368115.1	+	2	152	c.53T>C	c.(52-54)tTc>tCc	p.F18S	FCER1A_ENST00000368114.1_Missense_Mutation_p.F18S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	18						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTACTGTTCTTCGGTAAGTAG	0.502													21	224					0	0	0	0	C	159272207	T	C	159272207	3	2	497	1	0	0	0	0	1	0	0	0	5819	1783	62	5	55	5	FCER1A	1	159272207	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	2398426	159272207	89978414	14	96480											
SLAMF1	6504	broad.mit.edu	37	chr1	160604531	160604531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgagggacaggaggtggGagctgttggctgggttcagt	6	9	22	4	0	1	1	1	1	0	0	1	4	1	4	0	7	1	4	0	7	0	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:160604531G>T	ENST00000302035.6	-	3	921	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	SLAMF1_ENST00000538290.1_Missense_Mutation_p.S191Y|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S191Y|SLAMF1_ENST00000355199.3_Missense_Mutation_p.S191Y	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	191	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			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)			CAGGAGGTGGGAGCTGTTGGC	0.587													16	73					4.7546e-09	5.21886e-09	1	0	T	160604531	G	T	160604531	3	4	497	1	0	0	0	0	1	0	0	0	14455	1174	41	2	455	2	SLAMF1	1	160604531	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1332324	160604531	88646090	15	96481											
ILDR2	387597	broad.mit.edu	37	chr1	166888585	166888585	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattatccagagaaatgttGacaacatcagaccacaaggg	16	8	8	9	0	2	3	2	1	0	2	3	4	3	3	2	1	1	1	2	1	4	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:166888585G>C	ENST00000469934.2	-	9	1467	c.1254C>G	c.(1252-1254)gtC>gtG	p.V418V	ILDR2_ENST00000529387.1_3'UTR|ILDR2_ENST00000529071.1_3'UTR|ILDR2_ENST00000526687.1_3'UTR|ILDR2_ENST00000271417.3_3'UTR|ILDR2_ENST00000525740.1_3'UTR|ILDR2_ENST00000528703.1_3'UTR			Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	0						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAGAAATGTTGACAACATCAG	0.458													4	41					0	0	0	0	C	166888585	G	C	166888585	2	2	497	1	0	0	0	0	0	0	0	1	7763	1305	45	2		2	ILDR2	1	166888585	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	6284054	166888585	82362036	16	96482											
TPR	7175	broad.mit.edu	37	chr1	186302476	186302476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagaacgaacggatccacTtgtgcttccaaaaactggaa	15	8	9	9	2	0	1	0	0	0	1	2	4	2	3	2	2	4	2	2	2	6	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:186302476T>C	ENST00000367478.3	-	37	5529	c.5233A>G	c.(5233-5235)Agt>Ggt	p.S1745G		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1745					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACGGATCCACTTGTGCTTCCA	0.403			T	NTRK1	papillary thyroid								35	110					0	0	0	0	C	186302476	T	C	186302476	3	2	497	1	0	0	0	0	1	0	0	0	16511	1609	56	5	1918	5	TPR	1	186302476	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	19413891	186302476	62948145	17	96483											
CFHR3	10878	broad.mit.edu	37	chr1	196748421	196748421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaacattttgagactccttCaggaagttactgggattaca	12	13	9	7	0	1	2	1	2	0	1	2	5	2	4	1	2	3	1	1	2	4	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:196748421C>T	ENST00000471440.2	+	2	262	c.188C>T	c.(187-189)tCa>tTa	p.S63L	CFHR3_ENST00000367425.4_Missense_Mutation_p.S63L|CFHR3_ENST00000391985.3_Missense_Mutation_p.S63L					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GAGACTCCTTCAGGAAGTTAC	0.393													5	66					0	0	0	0	T	196748421	C	T	196748421	3	4	497	1	0	0	0	0	1	0	0	0	3315	838	29	2	194	2	CFHR3	1	196748421	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	10445945	196748421	52502200	18	96484											
KCNH1	3756	broad.mit.edu	37	chr1	210856679	210856679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactgtggcctcgatatttCaaacaactcctgaggagact	11	10	10	10	1	1	2	1	1	0	1	3	5	2	3	2	3	2	0	2	3	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:210856679C>G	ENST00000367007.4	-	11	3002	c.2833G>C	c.(2833-2835)Gaa>Caa	p.E945Q	KCNH1_ENST00000271751.4_Missense_Mutation_p.E972Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	972	CAD (involved in subunit assembly) (By similarity).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCGATATTTCAAACAACTCC	0.433													16	169					0	0	0	0	G	210856679	C	G	210856679	3	3	497	1	0	0	0	0	1	0	0	0	8084	835	29	2	59	2	KCNH1	1	210856679	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	14108258	210856679	38393942	19	96485											
KCNH1	3756	broad.mit.edu	37	chr1	210857444	210857444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtttcatgcgttcttcctCttcacgtttcacatcgctga	5	17	6	13	4	5	1	3	1	2	0	8	1	6	1	1	0	1	4	1	0	0	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:210857444C>G	ENST00000367007.4	-	11	2237	c.2068G>C	c.(2068-2070)Gag>Cag	p.E690Q	KCNH1_ENST00000271751.4_Missense_Mutation_p.E717Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	717	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CGTTCTTCCTCTTCACGTTTC	0.562													4	98					0	0	0	0	G	210857444	C	G	210857444	3	3	497	1	0	0	0	0	1	0	0	0	8084	922	32	2	824	2	KCNH1	1	210857444	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	765	210857444	38393177	20	96486											
TMEM206	55248	broad.mit.edu	37	chr1	212560269	212560269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacttccttgtaagacaCagacatgacagggtgcttga	12	10	9	10	0	0	4	0	2	0	2	2	4	2	4	2	1	1	2	2	1	1	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:212560269C>G	ENST00000261455.4	-	3	444	c.307G>C	c.(307-309)Gtg>Ctg	p.V103L	TMEM206_ENST00000535273.1_Missense_Mutation_p.V164L|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	103						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGTAAGACACAGACATGACA	0.552													6	244					0	0	0	0	G	212560269	C	G	212560269	3	3	497	1	0	0	0	0	1	0	0	0	16225	478	17	4	769	4	TMEM206	1	212560269	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1702825	212560269	36690352	21	96487											
ARID4B	51742	broad.mit.edu	37	chr1	235377235	235377235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatagcactcaaactcctCttcctcattgttgtcatcat	9	15	5	12	0	5	0	4	0	1	0	7	1	7	1	2	1	2	2	2	1	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:235377235C>G	ENST00000264183.3	-	17	2187	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	ARID4B_ENST00000366603.2_Missense_Mutation_p.E564Q|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	564	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCAAACTCCTCTTCCTCATTG	0.403													5	231					0	0	0	0	G	235377235	C	G	235377235	3	3	497	1	0	0	0	0	1	0	0	0	922	922	32	2	2280	2	ARID4B	1	235377235	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	22816966	235377235	13873386	22	96488											
APOB	338	broad.mit.edu	37	chr2	21234141	21234141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgatgtctgtgttgagccGatggctaaactccacaccct	9	10	10	12	2	1	1	0	1	1	0	2	3	2	1	3	1	3	2	3	1	2	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:21234141G>A	ENST00000233242.1	-	26	5726	c.5599C>T	c.(5599-5601)Cgg>Tgg	p.R1867W		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1867				R -> G (in Ref. 4; AAB04636).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTTGAGCCGATGGCTAAAC	0.438													7	133					0	0	0	0	A	21234141	G	A	21234141	3	1	497	1	0	0	0	0	1	0	0	0	787	1057	37	1	8108	1	APOB	2	21234141	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		21234141	221965232	23	96489											
MTHFD2	10797	broad.mit.edu	37	chr2	74441282	74441282	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtggcaatgctaatgaaGaataccattattgctgcaaa	16	10	8	7	0	0	2	0	1	0	1	0	2	0	2	1	1	4	4	1	1	7	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:74441282G>A	ENST00000394053.2	+	8	1046	c.966G>A	c.(964-966)aaG>aaA	p.K322K	RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000409804.1_Silent_p.K194K|MTHFD2_ENST00000264090.4_Silent_p.K220K|MTHFD2_ENST00000409601.1_Silent_p.K239K|MTHFD2_ENST00000394050.3_Silent_p.K158K	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	322					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGCTAATGAAGAATACCATTA	0.458													4	142					0	0	0	0	A	74441282	G	A	74441282	2	1	497	1	0	0	0	0	0	0	0	1	9999	933	33	2		2	MTHFD2	2	74441282	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	53207141	74441282	168758091	24	96490											
GCC2	9648	broad.mit.edu	37	chr2	109099602	109099602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttcagaaaaccatgcaaGaattagagctggttaaaaag	18	8	9	6	0	1	3	1	0	0	3	1	3	1	3	1	1	4	4	1	1	8	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:109099602G>C	ENST00000309863.6	+	12	4144	c.3430G>C	c.(3430-3432)Gaa>Caa	p.E1144Q		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1144					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACCATGCAAGAATTAGAGCT	0.313													17	48					0	0	0	0	C	109099602	G	C	109099602	3	2	497	1	0	0	0	0	1	0	0	0	6335	943	33	2	3476	2	GCC2	2	109099602	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	34658320	109099602	134099771	25	96491											
DPP10	57628	broad.mit.edu	37	chr2	116572398	116572398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaggaggccagctggttaCagataagttccatattgact	12	10	10	9	0	0	2	0	1	0	1	1	3	1	3	3	3	2	3	3	3	3	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:116572398C>A	ENST00000410059.1	+	20	2210	c.1730C>A	c.(1729-1731)aCa>aAa	p.T577K	DPP10_ENST00000393147.2_Missense_Mutation_p.T581K|DPP10_ENST00000409163.1_Missense_Mutation_p.T527K|DPP10_ENST00000310323.8_Missense_Mutation_p.T570K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	577					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGCTGGTTACAGATAAGTTC	0.408													8	96					0.00448238	0.00456643	1	0	A	116572398	C	A	116572398	3	1	497	1	0	0	0	0	1	0	0	0	4763	478	17	4	1979	4	DPP10	2	116572398	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	7472796	116572398	126626975	26	96492											
ERCC3	2071	broad.mit.edu	37	chr2	128030455	128030455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccttggatatgaagaTggtgttaattttggggttgt	11	15	12	3	0	0	2	0	1	0	1	0	3	0	3	1	4	1	2	1	4	4	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:128030455T>C	ENST00000493187.2	-	11	2084	c.1621A>G	c.(1621-1623)Atc>Gtc	p.I541V	ERCC3_ENST00000285398.2_Missense_Mutation_p.I605V			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	605					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GATATGAAGATGGTGTTAATT	0.483			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	92					0	0	0	0	C	128030455	T	C	128030455	3	2	497	1	0	0	0	0	1	0	0	0	5252	1464	51	5	555	5	ERCC3	2	128030455	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	11458057	128030455	115168918	27	96493											
FMNL2	114793	broad.mit.edu	37	chr2	153475432	153475432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaaagaagaagcaattCaaagacagtctaccctggaa	21	5	8	7	0	2	4	1	0	1	4	2	5	2	5	1	1	2	1	1	1	9	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:153475432C>G	ENST00000288670.9	+	14	1754	c.1387C>G	c.(1387-1389)Caa>Gaa	p.Q463E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	463	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGAAGCAATTCAAAGACAGTC	0.373													7	55					0	0	0	0	G	153475432	C	G	153475432	3	3	497	1	0	0	0	0	1	0	0	0	5997	827	29	2	1441	2	FMNL2	2	153475432	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	25444977	153475432	89723941	28	96494											
LRP2	4036	broad.mit.edu	37	chr2	170068605	170068605	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaccgattatcaggattGagtttaaatccagtggcaca	13	10	10	8	1	1	1	1	1	0	0	2	4	2	3	2	3	0	2	2	3	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:170068605G>C	ENST00000263816.3	-	37	6438	c.6153C>G	c.(6151-6153)ctC>ctG	p.L2051L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2051	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TATCAGGATTGAGTTTAAATC	0.448													15	160					0	0	0	0	C	170068605	G	C	170068605	2	2	497	1	0	0	0	0	0	0	0	1	9020	1277	45	2		2	LRP2	2	170068605	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	16593173	170068605	73130768	29	96495											
METTL8	79828	broad.mit.edu	37	chr2	172187154	172187154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtaaggtaagccatcatCacatacatcatgaacaaagg	17	7	9	8	0	3	1	3	1	0	0	3	1	3	1	1	3	3	2	1	3	5	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:172187154C>T	ENST00000375258.3	-	7	990	c.775G>A	c.(775-777)Gat>Aat	p.D259N				B3KW44	B3KW44_HUMAN	methyltransferase like 8	259							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AAGCCATCATCACATACATCA	0.423													5	69					0	0	0	0	T	172187154	C	T	172187154	3	4	497	1	0	0	0	0	1	0	0	0	9576	826	29	2	464	2	METTL8	2	172187154	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	2118549	172187154	71012219	30	96496											
TTN	7273	broad.mit.edu	37	chr2	179510677	179510677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatattttctccttcacatCttccttaggtggagcaggtg	8	15	9	9	0	3	0	1	0	2	0	5	2	4	1	2	3	1	1	2	3	3	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179510677C>A	ENST00000589042.1	-	217	40602	c.40378G>T	c.(40378-40380)Gat>Tat	p.D13460Y	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D10892Y|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D11819Y|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11819	Ig-like 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTCACATCTTCCTTAGGT	0.408													3	11					0.014758	0.0148951	1	0	A	179510677	C	A	179510677	3	1	497	1	0	0	0	0	1	0	0	0	16831	913	32	2	67899	2	TTN	2	179510677	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	7323523	179510677	63688696	31	96497											
TTN	7273	broad.mit.edu	37	chr2	179588290	179588290	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatgttgcaccggtctccTttcactagttctctggcacc	6	14	8	13	1	3	1	1	0	2	1	5	1	3	1	3	2	1	4	3	2	2	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179588290T>C	ENST00000589042.1	-	74	21761	c.21537A>G	c.(21535-21537)aaA>aaG	p.K7179K	TTN_ENST00000342992.6_Silent_p.K5935K|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.K6862K|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6862	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCGGTCTCCTTTCACTAGTT	0.423													15	35					0	0	0	0	C	179588290	T	C	179588290	2	2	497	1	0	0	0	0	0	0	0	1	16831	1606	56	5		5	TTN	2	179588290	Silent	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	77613	179588290	63611083	32	96498											
TTN	7273	broad.mit.edu	37	chr2	179615620	179615620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttcttccagctgtcctCttgcttgggtattttcattt	5	21	6	9	0	3	0	1	0	2	0	5	0	5	0	2	1	2	3	2	1	2	9			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179615620C>T	ENST00000360870.5	-	46	11729	c.11507G>A	c.(11506-11508)aGa>aAa	p.R3836K	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9671							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTGTCCTCTTGCTTGGGT	0.373													5	132					0	0	0	0	T	179615620	C	T	179615620	3	4	497	1	0	0	0	0	1	0	0	0	16831	913	32	2	98790	2	TTN	2	179615620	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	27330	179615620	63583753	33	96499											
SESTD1	91404	broad.mit.edu	37	chr2	180036954	180036954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggacacctcagctggaaCaacattctataaaatacaga	18	7	7	9	0	2	1	1	0	1	1	2	3	2	3	1	2	4	1	1	2	7	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:180036954C>A	ENST00000428443.3	-	5	578	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	88	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAGCTGGAACAACATTCTAT	0.313													15	200					2.48551e-13	2.77491e-13	1	0	A	180036954	C	A	180036954	3	1	497	1	0	0	0	0	1	0	0	0	14214	478	17	4	1884	4	SESTD1	2	180036954	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	421334	180036954	63162419	34	96500											
AOX1	316	broad.mit.edu	37	chr2	201531426	201531426	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagaacatcagaacagacaTtgtcatggatgttggctgca	13	10	10	8	0	2	3	2	0	0	3	2	4	2	4	0	2	3	3	0	2	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:201531426T>A	ENST00000374700.2	+	32	3801	c.3560T>A	c.(3559-3561)aTt>aAt	p.I1187N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1187					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGAACAGACATTGTCATGGAT	0.383													15	111					0	0	0	0	A	201531426	T	A	201531426	3	1	497	1	0	0	0	0	1	0	0	0	730	1493	52	5	3686	5	AOX1	2	201531426	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	21494472	201531426	41667947	35	96501											
FN1	2335	broad.mit.edu	37	chr2	216288965	216288965	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgcccttctgtggtgcAggagtagaacgtcctgccat	6	11	12	12	2	1	1	0	0	1	1	3	2	2	2	3	2	3	2	3	2	2	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:216288965A>T	ENST00000354785.4	-	8	1489	c.1120T>A	c.(1120-1122)Tgc>Agc	p.C374S	FN1_ENST00000345488.5_Missense_Mutation_p.C374S|FN1_ENST00000323926.6_Missense_Mutation_p.C374S|FN1_ENST00000336916.4_Missense_Mutation_p.C374S|FN1_ENST00000446046.1_Missense_Mutation_p.C374S|FN1_ENST00000356005.4_Missense_Mutation_p.C374S|FN1_ENST00000443816.1_Missense_Mutation_p.C374S|FN1_ENST00000432072.2_Missense_Mutation_p.C374S|FN1_ENST00000421182.1_Missense_Mutation_p.C374S|FN1_ENST00000359671.1_Missense_Mutation_p.C374S|FN1_ENST00000357867.4_Missense_Mutation_p.C374S|FN1_ENST00000357009.2_Missense_Mutation_p.C374S|FN1_ENST00000346544.3_Missense_Mutation_p.C374S|FN1_ENST00000426059.1_Missense_Mutation_p.C374S			P02751	FINC_HUMAN	fibronectin 1	374	Collagen-binding.|Fibronectin type-II 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGTGGTGCAGGAGTAGAAC	0.478													8	125					0	0	0	0	T	216288965	A	T	216288965	3	4	497	1	0	0	0	0	1	0	0	0	6007	188	7	5	6502	5	FN1	2	216288965	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	14757539	216288965	26910408	36	96502											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279767	217279767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccaggccacagtccaCgtagtcaaatggctctcact	9	8	8	16	1	2	0	2	0	1	0	4	0	3	0	4	2	1	2	4	2	2	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:217279767C>T	ENST00000357276.4	+	3	670	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R114C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	114			R -> H (in dbSNP:rs11555797).		chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCACAGTCCACGTAGTCAAAT	0.488									Schimke Immuno-Osseous Dysplasia				6	58					0	0	0	0	T	217279767	C	T	217279767	3	4	497	1	0	0	0	0	1	0	0	0	14861	536	19	1	342	1	SMARCAL1	2	217279767	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	990802	217279767	25919606	37	96503											
COL4A3	1285	broad.mit.edu	37	chr2	228120747	228120747	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtttttgctgtagggaaaAcccggaaaagatggtgttcc	10	13	12	6	1	0	1	0	0	0	1	1	3	1	3	2	3	2	4	2	3	5	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:228120747A>T	ENST00000396578.3	+	16	1056	c.894A>T	c.(892-894)aaA>aaT	p.K298N	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	298	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGTAGGGAAAACCCGGAAAAG	0.383													7	54					0	0	0	0	T	228120747	A	T	228120747	3	4	497	1	0	0	0	0	1	0	0	0	3721	40	2	5	956	5	COL4A3	2	228120747	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	10840980	228120747	15078626	38	96504											
DTYMK	1841	broad.mit.edu	37	chr2	242617876	242617876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggattctcaccttccagttCaaagtcgtgtctttcatgag	8	14	9	10	1	4	1	3	1	2	0	7	2	5	2	2	1	0	1	2	1	1	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:242617876C>T	ENST00000305784.2	-	4	726	c.519G>A	c.(517-519)ttG>ttA	p.L173L		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	173					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCTTCCAGTTCAAAGTCGTGT	0.572													17	139					0	0	0	0	T	242617876	C	T	242617876	2	4	497	1	0	0	0	0	0	0	0	1	4834	825	29	2		2	DTYMK	2	242617876	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	14497129	242617876	581497	39	96505											
CNTN6	27255	broad.mit.edu	37	chr3	1424759	1424759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtctacagaaatgaaaGcatcatcccactgtctccct	11	12	6	12	0	3	2	1	1	2	1	5	2	4	2	2	0	2	2	2	0	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:1424759G>C	ENST00000446702.2	+	18	2927	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T	CNTN6_ENST00000350110.2_Missense_Mutation_p.S767T|CNTN6_ENST00000539053.1_Missense_Mutation_p.S695T			Q9UQ52	CNTN6_HUMAN	contactin 6	767	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGAAATGAAAGCATCATCCCA	0.448													12	66					0	0	0	0	C	1424759	G	C	1424759	3	2	497	1	0	0	0	0	1	0	0	0	3675	971	34	4	2366	4	CNTN6	3	1424759	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		1424759	196597671	40	96506											
TRANK1	9881	broad.mit.edu	37	chr3	36897743	36897743	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcgcaggcttcatacTcctgctcatctatgctttct	5	15	6	15	1	4	0	2	0	2	0	6	0	6	0	2	1	4	4	2	1	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:36897743T>A	ENST00000429976.2	-	12	3585	c.3338A>T	c.(3337-3339)gAg>gTg	p.E1113V	TRANK1_ENST00000301807.6_Missense_Mutation_p.E563V|TRANK1_ENST00000428977.2_Missense_Mutation_p.E563V			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1113	Glu-rich.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCTTCATACTCCTGCTCATC	0.542													3	23					0	0	0	0	A	36897743	T	A	36897743	3	1	497	1	0	0	0	0	1	0	0	0	16549	1551	54	5	5487	5	TRANK1	3	36897743	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	35472984	36897743	161124687	41	96507											
MLH1	4292	broad.mit.edu	37	chr3	37090050	37090050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctgattgacaactatGtgccccctttggagggactg	7	12	10	12	0	1	2	0	2	1	0	1	4	1	4	3	2	2	0	3	2	2	4	rs63750109		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:37090050G>C	ENST00000231790.2	+	17	2155	c.1939G>C	c.(1939-1941)Gtg>Ctg	p.V647L	MLH1_ENST00000455445.2_Missense_Mutation_p.V406L|MLH1_ENST00000458205.2_Missense_Mutation_p.V406L|MLH1_ENST00000539477.1_Missense_Mutation_p.V406L|MLH1_ENST00000536378.1_Missense_Mutation_p.V406L|MLH1_ENST00000435176.1_Missense_Mutation_p.V549L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	647	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGACAACTATGTGCCCCCTTT	0.448		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				31	190					0	0	0	0	C	37090050	G	C	37090050	3	2	497	1	0	0	0	0	1	0	0	0	9686	1377	48	4	2005	4	MLH1	3	37090050	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	192307	37090050	160932380	42	96508											
GOLGA4	2803	broad.mit.edu	37	chr3	37366600	37366600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagaacaagaggtagcaGaactgaaacaaaagatcctc	22	4	8	7	0	0	5	0	1	0	4	2	5	1	5	1	1	4	2	1	1	9	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:37366600G>A	ENST00000361924.2	+	14	3597	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1097K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1075	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.E1075K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGGTAGCAGAACTGAAACA	0.363													5	41					0	0	0	0	A	37366600	G	A	37366600	3	1	497	1	0	0	0	0	1	0	0	0	6606	943	33	2	3347	2	GOLGA4	3	37366600	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	276550	37366600	160655830	43	96509											
PROS1	5627	broad.mit.edu	37	chr3	93646165	93646165	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgatgcattctctttCaagattaccctgtttggttt	6	20	6	9	1	3	1	1	0	2	1	5	2	3	1	1	1	2	3	1	1	2	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:93646165C>A	ENST00000394236.3	-	2	479	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	55	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CATTCTCTTTCAAGATTACCC	0.403													18	185					3.51602e-12	3.89871e-12	1	0	A	93646165	C	A	93646165	4	1	497	1	0	0	0	0	0	1	0	0	12638	835	29	2	1923	2	PROS1	3	93646165	Nonsense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	56279565	93646165	104376265	44	96510											
EPHA6	285220	broad.mit.edu	37	chr3	97167436	97167436	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcagctgacctactctTccacaaggtccaaagccccc	11	7	7	16	0	1	2	0	2	1	0	3	2	3	2	5	1	4	2	5	1	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97167436T>A	ENST00000389672.5	+	7	1794	c.1756T>A	c.(1756-1758)Tcc>Acc	p.S586T	EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	491						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACCTACTCTTCCACAAGGTC	0.443													9	111					0	0	0	0	A	97167436	T	A	97167436	3	1	497	1	0	0	0	0	1	0	0	0	5209	1783	62	5	1782	5	EPHA6	3	97167436	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	3521271	97167436	100854994	45	96511											
OR5H14	403273	broad.mit.edu	37	chr3	97868948	97868948	+	Missense_Mutation	SNP	C	C	A																															tatgagaaaagccttctccaCctgtggagctcatctcttat																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97868948C>A	ENST00000437310.1	+	1	779	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCCTTCTCCACCTGTGGAGCT	0.413													30	80					1.88708e-17	2.13607e-17	1	0	A	97868948	C	A	97868948	3	1	497	1	0	0	0	0	1	0	0	0	11231	507	18	4	721	4	OR5H14	3	97868948	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	701512	97868948	100153482	46	96512	1152	2									
OR5H14	403273	broad.mit.edu	37	chr3	97868949	97868949	+	Silent	SNP	C	C	A																															atgagaaaagccttctccacCtgtggagctcatctcttatc																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97868949C>A	ENST00000437310.1	+	1	780	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTCTCCACCTGTGGAGCTC	0.413													29	81					8.58068e-18	9.78078e-18	1	0	A	97868949	C	A	97868949	2	1	497	1	0	0	0	0	0	0	0	1	11231	668	24	4		4	OR5H14	3	97868949	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1	97868949	100153481	47	96513	1152	2									
GUCA1C	9626	broad.mit.edu	37	chr3	108635040	108635040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggactcagagtttgctGgccattgagggcttgtaccg	7	12	13	9	1	2	2	2	1	0	1	2	3	2	3	2	3	2	4	2	3	1	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:108635040G>T	ENST00000261047.3	-	3	508	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	GUCA1C_ENST00000393963.3_Missense_Mutation_p.Q126K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.Q126K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	126					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AGAGTTTGCTGGCCATTGAGG	0.408													16	177					0.000422831	0.000437597	1	0	T	108635040	G	T	108635040	3	4	497	1	0	0	0	0	1	0	0	0	6940	1357	47	4	261	4	GUCA1C	3	108635040	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	10766091	108635040	89387390	48	96514											
PIK3R4	30849	broad.mit.edu	37	chr3	130409457	130409457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttggcagaatgtgagcGtcttgactcgtcctccaatt	8	12	10	11	2	1	3	0	2	1	1	4	3	3	3	3	1	2	1	3	1	2	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:130409457G>A	ENST00000356763.3	-	14	3697	c.3140C>T	c.(3139-3141)aCg>aTg	p.T1047M	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1047					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAATGTGAGCGTCTTGACTCG	0.403													9	67					0	0	0	0	A	130409457	G	A	130409457	3	1	497	1	0	0	0	0	1	0	0	0	11993	1145	40	1	964	1	PIK3R4	3	130409457	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	21774417	130409457	67612973	49	96515											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721723	135721723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctactcatcttaaaaaatgCcccaccccaatgcaaaatga	16	8	4	13	0	2	1	1	1	1	0	2	1	2	1	4	0	3	2	4	0	7	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135721723C>T	ENST00000264977.3	+	2	2000	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	461					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAAAAAATGCCCCACCCCAA	0.328													7	658					0	0	0	0	T	135721723	C	T	135721723	2	4	497	1	0	0	0	0	0	0	0	1	12464	747	26	4		4	PPP2R3A	3	135721723	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	5312266	135721723	62300707	50	96516											
PPP2R3A	5523	broad.mit.edu	37	chr3	135801125	135801125	+	Missense_Mutation	SNP	G	G	A																															agaccctagcacttttggaaGaagaggaagatataaaccaa																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801125G>A	ENST00000264977.3	+	8	3267	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E263K|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E148K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	884					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTTTTGGAAGAAGAGGAAGA	0.333													23	614					0	0	0	0	A	135801125	G	A	135801125	3	1	497	1	0	0	0	0	1	0	0	0	12464	943	33	2	2812	2	PPP2R3A	3	135801125	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	79402	135801125	62221305	51	96517	1153	2	1	161		5	3	88	N	G	2.802418e-07
PPP2R3A	5523	broad.mit.edu	37	chr3	135801131	135801131	+	Missense_Mutation	SNP	G	G	A																															tagcacttttggaagaagagGaagatataaaccaaattaca																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801131G>A	ENST00000264977.3	+	8	3273	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E265K|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E150K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	886					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGAAGAGGAAGATATAAA	0.338													24	627					0	0	0	0	A	135801131	G	A	135801131	3	1	497	1	0	0	0	0	1	0	0	0	12464	1175	41	2	2818	2	PPP2R3A	3	135801131	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	6	135801131	62221299	52	96518	1153	2	1	161		5	3	88	N	G	2.802418e-07
PPP2R3A	5523	broad.mit.edu	37	chr3	135801152	135801152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatataaaccaaattacaGattacttctcctatgaacat	18	12	3	8	0	1	3	0	1	1	2	2	3	1	3	2	0	4	0	2	0	9	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801152G>A	ENST00000264977.3	+	8	3294	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D272N|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D157N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	893					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAAATTACAGATTACTTCTC	0.353													29	681					0	0	0	0	A	135801152	G	A	135801152	3	1	497	1	0	0	0	0	1	0	0	0	12464	942	33	2	2839	2	PPP2R3A	3	135801152	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	21	135801152	62221278	53	96519			1	161		5	3	88	N	G	2.802418e-07
PPP2R3A	5523	broad.mit.edu	37	chr3	135801206	135801206	+	Missense_Mutation	SNP	G	G	C																															attgtaaattctgggaactaGatactgatcacgacctctac																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801206G>C	ENST00000264977.3	+	8	3348	c.2731G>C	c.(2731-2733)Gat>Cat	p.D911H	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D290H|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D175H	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	911					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGGAACTAGATACTGATCA	0.378													48	798					0	0	0	0	C	135801206	G	C	135801206	3	2	497	1	0	0	0	0	1	0	0	0	12464	942	33	2	2893	2	PPP2R3A	3	135801206	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	54	135801206	62221224	54	96520	1154	2	1	161		5	3	88	N	G	2.802418e-07
PPP2R3A	5523	broad.mit.edu	37	chr3	135801212	135801212	+	Missense_Mutation	SNP	G	G	A																															aattctgggaactagatactGatcacgacctctacatcagc																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801212G>A	ENST00000264977.3	+	8	3354	c.2737G>A	c.(2737-2739)Gat>Aat	p.D913N	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D292N|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D177N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	913					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTAGATACTGATCACGACCT	0.358													49	799					0	0	0	0	A	135801212	G	A	135801212	3	1	497	1	0	0	0	0	1	0	0	0	12464	1290	45	2	2899	2	PPP2R3A	3	135801212	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	6	135801212	62221218	55	96521	1154	2	1	161		5	3	88	N	G	2.802418e-07
PLCH1	23007	broad.mit.edu	37	chr3	155199085	155199085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactagcaatattgcgcactCtgctctgacttctggatgac	9	12	9	11	1	3	2	0	2	3	0	3	4	3	3	0	1	3	3	0	1	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:155199085C>G	ENST00000460012.1	-	23	4997	c.4640G>C	c.(4639-4641)aGa>aCa	p.R1547T	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1547T|PLCH1_ENST00000340059.7_Missense_Mutation_p.R1585T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1547T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1585					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTGCGCACTCTGCTCTGACT	0.498													15	165					0	0	0	0	G	155199085	C	G	155199085	3	3	497	1	0	0	0	0	1	0	0	0	12109	913	32	2	331	2	PLCH1	3	155199085	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	19397873	155199085	42823345	56	96522											
KCNAB1	7881	broad.mit.edu	37	chr3	156175302	156175302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaacctctttgatactgccGaagtctatgctgctggaaag	10	13	9	9	1	2	1	0	1	2	0	2	3	2	2	2	1	5	2	2	1	5	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:156175302G>A	ENST00000302490.8	+	4	1235	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	KCNAB1_ENST00000389634.5_Missense_Mutation_p.E122K|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E140K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.E140K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E129K	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	140						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGATACTGCCGAAGTCTATGC	0.473													20	236					0	0	0	0	A	156175302	G	A	156175302	3	1	497	1	0	0	0	0	1	0	0	0	8062	1059	37	1	903	1	KCNAB1	3	156175302	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	976217	156175302	41847128	57	96523											
SLITRK3	22865	broad.mit.edu	37	chr3	164908111	164908111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaatttacttaggttccGaaatgccccactctcaatac	11	12	4	14	1	2	0	2	0	1	0	4	1	3	0	4	1	3	1	4	1	6	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:164908111G>A	ENST00000475390.1	-	2	951	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R170W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	170						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTAGGTTCCGAAATGCCCCA	0.388										HNSCC(40;0.11)			15	153					0	0	0	0	A	164908111	G	A	164908111	3	1	497	1	0	0	0	0	1	0	0	0	14832	1057	37	1	2429	1	SLITRK3	3	164908111	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	8732809	164908111	33114319	58	96524											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540093	169540093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctccggctctaccagacCgacctgaaggaaattcccgt	10	7	10	14	3	1	2	0	1	1	1	3	5	3	3	5	2	2	2	5	2	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:169540093C>T	ENST00000340806.6	+	1	384	c.384C>T	c.(382-384)acC>acT	p.T128T		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	128										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTACCAGACCGACCTGAAGG	0.567													13	120					0	0	0	0	T	169540093	C	T	169540093	2	4	497	1	0	0	0	0	0	0	0	1	9095	639	23	1		1	LRRIQ4	3	169540093	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	4631982	169540093	28482337	59	96525											
LRRC31	79782	broad.mit.edu	37	chr3	169569448	169569448	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaagcacagttgttgAtaactaatgacttcaatgct	13	13	6	9	0	2	2	1	2	1	0	3	2	2	2	1	0	3	4	1	0	4	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:169569448A>C	ENST00000316428.5	-	7	1175	c.1118T>G	c.(1117-1119)aTc>aGc	p.I373S	LRRC31_ENST00000264676.5_Missense_Mutation_p.I317S|LRRC31_ENST00000523069.1_Missense_Mutation_p.I373S	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	373										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ACAGTTGTTGATAACTAATGA	0.418													13	120					0	0	0	0	C	169569448	A	C	169569448	3	2	497	1	0	0	0	0	1	0	0	0	9050	333	12	5	552	5	LRRC31	3	169569448	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	29355	169569448	28452982	60	96526											
NAALADL2	254827	broad.mit.edu	37	chr3	175473145	175473145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatccggatgctgaatGacattctccaagacatggag	11	9	10	11	2	1	3	0	2	1	1	4	5	3	5	3	2	1	2	3	2	2	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:175473145G>T	ENST00000454872.1	+	13	2256	c.2128G>T	c.(2128-2130)Gac>Tac	p.D710Y		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	710					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GATGCTGAATGACATTCTCCA	0.468													4	43					0.150653	0.150653	1	0	T	175473145	G	T	175473145	3	4	497	1	0	0	0	0	1	0	0	0	10200	1290	45	2	2178	2	NAALADL2	3	175473145	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	5903697	175473145	22549285	61	96527											
KCNMB3	27094	broad.mit.edu	37	chr3	178968832	178968832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgctgcctacctgtgtctCgtgagcaggatgaatgcaac	8	12	11	10	1	1	2	0	2	1	0	2	3	1	3	2	1	6	3	2	1	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:178968832C>T	ENST00000314235.5	-	1	571	c.60G>A	c.(58-60)acG>acA	p.T20T	KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron|KCNMB3_ENST00000497599.1_Intron	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	20					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			ACCTGTGTCTCGTGAGCAGGA	0.418													13	179					0	0	0	0	T	178968832	C	T	178968832	2	4	497	1	0	0	0	0	0	0	0	1	8129	871	31	1		1	KCNMB3	3	178968832	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	3495687	178968832	19053598	62	96528											
CRMP1	1400	broad.mit.edu	37	chr4	5868411	5868411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacttgataagtccatcctCcaggtagacgtcagcataaa	13	9	7	12	1	1	2	1	1	0	1	4	2	4	2	4	1	1	2	4	1	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:5868411C>T	ENST00000324989.7	-	2	542	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CRMP1_ENST00000512574.1_Missense_Mutation_p.E36K|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.E38K	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	38					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AGTCCATCCTCCAGGTAGACG	0.483													19	105					0	0	0	0	T	5868411	C	T	5868411	3	4	497	1	0	0	0	0	1	0	0	0	3920	864	30	2	1658	2	CRMP1	4	5868411	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08		5868411	185285865	63	96529											
JAKMIP1	152789	broad.mit.edu	37	chr4	6083352	6083352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatttccacgttttccCgcgtgaggttcttgattttc	5	17	7	12	3	2	2	1	2	1	0	5	2	4	2	3	1	0	2	3	1	0	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:6083352C>T	ENST00000409021.3	-	6	1534	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R197Q	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	362	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACGTTTTCCCGCGTGAGGTT	0.527													5	85					0	0	0	0	T	6083352	C	T	6083352	3	4	497	1	0	0	0	0	1	0	0	0	7993	652	23	1	1549	1	JAKMIP1	4	6083352	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	214941	6083352	185070924	64	96530											
CHRNA9	55584	broad.mit.edu	37	chr4	40351154	40351154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatgggaggtccatggCatgcccgctgtgaagaatgt	9	9	16	7	1	0	2	0	1	0	1	1	4	1	4	2	4	1	2	2	4	3	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:40351154C>T	ENST00000310169.2	+	4	760	c.621C>T	c.(619-621)ggC>ggT	p.G207G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	207					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGGTCCATGGCATGCCCGCTG	0.512													32	271					0	0	0	0	T	40351154	C	T	40351154	2	4	497	1	0	0	0	0	0	0	0	1	3418	697	25	4		4	CHRNA9	4	40351154	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	34267802	40351154	150803122	65	96531											
KCTD8	386617	broad.mit.edu	37	chr4	44177257	44177257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttaggtgatactattttCtgaggtggtcctaaaaagga	11	15	11	4	0	1	2	0	2	1	0	2	3	2	3	1	4	1	1	1	4	6	7	rs141348340		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:44177257C>T	ENST00000360029.3	-	2	1255	c.972G>A	c.(970-972)caG>caA	p.Q324Q		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	324						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATACTATTTTCTGAGGTGGTC	0.333										HNSCC(17;0.042)			4	43					0	0	0	0	T	44177257	C	T	44177257	2	4	497	1	0	0	0	0	0	0	0	1	8168	912	32	2		2	KCTD8	4	44177257	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	3826103	44177257	146977019	66	96532											
MEPE	56955	broad.mit.edu	37	chr4	88766519	88766519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgattaaactcctgggggaaGaaaacaaagagaacacacct	18	5	9	9	1	0	2	0	0	0	2	1	5	1	3	2	2	3	0	2	2	7	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:88766519G>A	ENST00000497649.2	+	6	805	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	MEPE_ENST00000424957.3_Missense_Mutation_p.E167K|MEPE_ENST00000395102.4_Missense_Mutation_p.E198K|MEPE_ENST00000560249.1_Missense_Mutation_p.E54K|MEPE_ENST00000361056.3_Missense_Mutation_p.E167K|MEPE_ENST00000540395.1_Missense_Mutation_p.E54K|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	167					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCTGGGGGAAGAAAACAAAGA	0.408													15	97					0	0	0	0	A	88766519	G	A	88766519	3	1	497	1	0	0	0	0	1	0	0	0	9547	943	33	2	509	2	MEPE	4	88766519	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	44589262	88766519	102387757	67	96533											
TIGD2	166815	broad.mit.edu	37	chr4	90034627	90034627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgttgaaaaagagaatCtacaaccagagcaaatttat	19	11	6	5	0	1	3	0	1	1	2	1	4	1	3	1	0	3	2	1	0	8	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:90034627C>G	ENST00000317005.2	+	1	660	c.502C>G	c.(502-504)Cta>Gta	p.L168V		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	168	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		aaaagagaatctacaaccaga	0.373													5	89					0	0	0	0	G	90034627	C	G	90034627	3	3	497	1	0	0	0	0	1	0	0	0	15990	912	32	2	504	2	TIGD2	4	90034627	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1268108	90034627	101119649	68	96534											
MYOZ2	51778	broad.mit.edu	37	chr4	120079303	120079303	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaatccagacaacattgctCcaggtaaccaatccccttac	14	8	4	15	0	0	1	0	0	0	1	3	1	3	1	5	1	4	2	5	1	5	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:120079303C>G	ENST00000307128.5	+	4	586	c.373C>G	c.(373-375)Cca>Gca	p.P125A		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	125							protein phosphatase 2B binding	p.P125S(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAACATTGCTCCAGGTAACCA	0.433													4	102					0	0	0	0	G	120079303	C	G	120079303	3	3	497	1	0	0	0	0	1	0	0	0	10166	855	30	2	383	2	MYOZ2	4	120079303	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	30044676	120079303	71074973	69	96535											
TNIP3	79931	broad.mit.edu	37	chr4	122085252	122085252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactttctgcggcaatcattCtagatgtgccctgtacaaaa	12	12	7	10	1	3	1	1	0	2	1	3	1	3	1	1	1	4	2	1	1	6	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:122085252C>G	ENST00000454328.1	-	3	256	c.29G>C	c.(28-30)aGa>aCa	p.R10T	TNIP3_ENST00000507879.1_Missense_Mutation_p.R80T|TNIP3_ENST00000057513.3_Missense_Mutation_p.R10T|TNIP3_ENST00000509841.1_Missense_Mutation_p.R87T			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	10										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GGCAATCATTCTAGATGTGCC	0.393													9	117					0	0	0	0	G	122085252	C	G	122085252	3	3	497	1	0	0	0	0	1	0	0	0	16410	913	32	2	992	2	TNIP3	4	122085252	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	2005949	122085252	69069024	70	96536											
QRFPR	84109	broad.mit.edu	37	chr4	122251588	122251588	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagcactcactgtattcAatcatcatatggacaacatg	15	10	6	10	0	4	0	4	0	0	0	4	2	4	1	0	1	2	2	0	1	5	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:122251588A>C	ENST00000334383.5	-	5	806	c.775T>G	c.(775-777)Tga>Gga	p.*259G	QRFPR_ENST00000394427.2_Missense_Mutation_p.I296M			Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	0				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CACTGTATTCAATCATCATAT	0.418													8	28					0	0	0	0	C	122251588	A	C	122251588	4	2	497	1	0	0	0	0	0	0	0	0	12960	126	5	5	415	5	QRFPR	4	122251588	Nonstop_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	166336	122251588	68902688	71	96537											
ANKRD50	57182	broad.mit.edu	37	chr4	125592193	125592193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagtggagtcatgccatCtttatcacaatgatctactt	11	13	7	10	0	4	1	2	1	2	0	4	2	4	2	1	1	3	1	1	1	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:125592193C>G	ENST00000504087.1	-	4	3276	c.2239G>C	c.(2239-2241)Gat>Cat	p.D747H	ANKRD50_ENST00000515641.1_Missense_Mutation_p.D568H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	747										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTCATGCCATCTTTATCACAA	0.453													15	91					0	0	0	0	G	125592193	C	G	125592193	3	3	497	1	0	0	0	0	1	0	0	0	676	913	32	2	2054	2	ANKRD50	4	125592193	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	3340605	125592193	65562083	72	96538											
PLEKHG4B	153478	broad.mit.edu	37	chr5	143516	143516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacccgagaccgtcatggcaGagcagtggtgcaggtccgca	9	5	15	12	3	1	2	1	0	0	2	2	4	2	2	3	3	2	4	3	3	0	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:143516G>C	ENST00000283426.6	+	3	691	c.641G>C	c.(640-642)aGa>aCa	p.R214T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	214					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGTCATGGCAGAGCAGTGGTG	0.627													8	107					0	0	0	0	C	143516	G	C	143516	3	2	497	1	0	0	0	0	1	0	0	0	12144	942	33	2	651	2	PLEKHG4B	5	143516	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		143516	180771744	73	96539											
TERT	7015	broad.mit.edu	37	chr5	1264629	1264629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgccacccagggcctcGtcttctacagggaagttcac	7	8	11	15	2	3	0	1	0	2	0	4	1	3	1	4	2	2	1	4	2	2	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:1264629G>A	ENST00000310581.5	-	11	2790	c.2733C>T	c.(2731-2733)gaC>gaT	p.D911D	TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	911	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAGGGCCTCGTCTTCTACAG	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				10	112					0	0	0	0	A	1264629	G	A	1264629	2	1	497	1	0	0	0	0	0	0	0	1	15858	1136	40	1		1	TERT	5	1264629	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1121113	1264629	179650631	74	96540											
DNAH5	1767	broad.mit.edu	37	chr5	13751222	13751222	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaccctccccagtaactGatcttctagacctttcatgg	10	12	6	13	0	3	3	1	2	2	1	4	3	4	3	4	1	1	1	4	1	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:13751222G>A	ENST00000265104.4	-	65	11280	c.11176C>T	c.(11176-11178)Cag>Tag	p.Q3726*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3726	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAACTGATCTTCTAGA	0.453									Kartagener syndrome				10	102					0	0	0	0	A	13751222	G	A	13751222	4	1	497	1	0	0	0	0	0	1	0	0	4641	1299	45	2	2758	2	DNAH5	5	13751222	Nonsense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	12486593	13751222	167164038	75	96541											
PRDM9	56979	broad.mit.edu	37	chr5	23527470	23527470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgggcggggctttcGcgataagtcacacctcctca	7	9	14	11	3	2	0	2	0	0	0	4	2	3	1	2	4	0	1	2	4	1	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:23527470G>A	ENST00000296682.3	+	11	2455	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	758					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R758H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTCGCGATAAGTCA	0.572										HNSCC(3;0.000094)			19	100					0	0	0	0	A	23527470	G	A	23527470	3	1	497	1	0	0	0	0	1	0	0	0	12543	1087	38	1	2311	1	PRDM9	5	23527470	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	9776248	23527470	157387790	76	96542											
CDH10	1008	broad.mit.edu	37	chr5	24593382	24593382	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttaccttgcctacgtacTgataatcagatcctgtatat	11	14	6	10	1	1	2	1	1	0	1	2	2	2	2	3	0	5	3	3	0	6	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:24593382T>A	ENST00000264463.4	-	2	725	c.218A>T	c.(217-219)cAg>cTg	p.Q73L	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	73	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCCTACGTACTGATAATCAGA	0.348										HNSCC(23;0.051)			16	127					0	0	0	0	A	24593382	T	A	24593382	3	1	497	1	0	0	0	0	1	0	0	0	3125	1580	55	5	2192	5	CDH10	5	24593382	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	1065912	24593382	156321878	77	96543											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576576	33576576	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactttccactggagcgtcAtttccaggtactctgatctt	7	15	8	11	1	3	1	1	1	2	0	5	2	5	2	2	2	3	2	2	2	2	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:33576576A>T	ENST00000504830.1	-	19	3890	c.3555T>A	c.(3553-3555)aaT>aaA	p.N1185K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N1100K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1185	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGGAGCGTCATTTCCAGGTA	0.488										HNSCC(64;0.19)			39	143					0	0	0	0	T	33576576	A	T	33576576	3	4	497	1	0	0	0	0	1	0	0	0	257	214	8	5	1253	5	ADAMTS12	5	33576576	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	8983194	33576576	147338684	78	96544											
PDE4D	5144	broad.mit.edu	37	chr5	58652657	58652657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccgtggctcccagaggatCccaaacaaaagccattttta	13	8	7	13	1	0	1	0	0	0	1	2	2	2	2	4	2	2	1	4	2	4	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:58652657C>G	ENST00000405755.2	-	1	144	c.16G>C	c.(16-18)Gat>Cat	p.D6H	PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron	NM_001197219.1	NP_001184148.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCCAGAGGATCCCAAACAAAA	0.532													5	32					0	0	0	0	G	58652657	C	G	58652657	3	3	497	1	0	0	0	0	1	0	0	0	11713	870	30	2		2	PDE4D	5	58652657	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	25076081	58652657	122262603	79	96545											
SERINC5	256987	broad.mit.edu	37	chr5	79441913	79441913	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagcaaatgggccactcacTtgaaccagttggtgacggtc	11	9	11	10	1	1	2	1	2	0	0	2	2	1	2	2	3	2	2	2	3	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:79441913T>C	ENST00000507668.2	-	11	1388	c.1238_splice	c.e11+1	p.N413_splice	SERINC5_ENST00000509193.1_Splice_Site_p.K411_splice|SERINC5_ENST00000512972.2_Splice_Site_p.K413_splice|SERINC5_ENST00000512721.1_Splice_Site_p.N413_splice	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	413					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGCCACTCACTTGAACCAGTT	0.428													6	78					0	0	0	0	C	79441913	T	C	79441913	5	2	497	1	0	0	0	0	0	0	1	0	14170	1623	56	5	193	5	SERINC5	5	79441913	Splice_Site	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	20789256	79441913	101473347	80	96546											
APC	324	broad.mit.edu	37	chr5	112103071	112103071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtactggatatttagaaGaacttgagaaagagaggtaa	19	9	11	2	0	0	4	0	1	0	4	0	7	0	5	0	2	2	2	0	2	8	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:112103071G>A	ENST00000457016.1	+	4	786	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	APC_ENST00000508376.2_Missense_Mutation_p.E136K|APC_ENST00000257430.4_Missense_Mutation_p.E136K			P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E136K(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATTTAGAAGAACTTGAGAA	0.338		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			10	70					0	0	0	0	A	112103071	G	A	112103071	3	1	497	1	0	0	0	0	1	0	0	0	764	943	33	2	416	2	APC	5	112103071	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	32661158	112103071	68812189	81	96547											
PHAX	51808	broad.mit.edu	37	chr5	125939445	125939445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttttaaccctcctcccaaaCcagagccttttcagtttggc	8	13	6	14	0	1	1	1	0	0	1	3	1	3	1	5	1	3	2	5	1	2	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:125939445C>G	ENST00000297540.4	+	2	975	c.280C>G	c.(280-282)Cca>Gca	p.P94A	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	94	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TCCTCCCAAACCAGAGCCTTT	0.433													13	131					0	0	0	0	G	125939445	C	G	125939445	3	3	497	1	0	0	0	0	1	0	0	0	11885	507	18	4	286	4	PHAX	5	125939445	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	13836374	125939445	54975815	82	96548											
RAD50	10111	broad.mit.edu	37	chr5	131931469	131931469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaaaaaaaaaggaaaagcGgcgtgatgaaatgctgggac	18	5	13	5	2	0	2	0	2	0	0	0	4	0	4	0	3	2	2	0	3	8	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:131931469G>T	ENST00000378823.3	+	13	2575	c.1757G>T	c.(1756-1758)cGg>cTg	p.R586L	RAD50_ENST00000265335.6_Missense_Mutation_p.R725L	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	725					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGAAAAGCGGCGTGATGAA	0.428								Homologous recombination					13	111					5.50884e-06	5.86889e-06	1	0	T	131931469	G	T	131931469	3	4	497	1	0	0	0	0	1	0	0	0	13066	1116	39	3	2224	3	RAD50	5	131931469	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	5992024	131931469	48983791	83	96549											
PCDHA3	56145	broad.mit.edu	37	chr5	140182668	140182668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgcgtggggctgtacacggGagagatcagcacgacccgtg	8	6	16	11	5	1	1	1	0	0	1	2	4	1	2	1	3	2	3	1	3	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140182668G>C	ENST00000522353.2	+	1	1886	c.1886G>C	c.(1885-1887)gGa>gCa	p.G629A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G629A|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACGGGAGAGATCAGC	0.657													10	96					0	0	0	0	C	140182668	G	C	140182668	3	2	497	1	0	0	0	0	1	0	0	0	11596	1174	41	2	1888	2	PCDHA3	5	140182668	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	8251199	140182668	40732592	84	96550											
PCDHA11	56138	broad.mit.edu	37	chr5	140249438	140249438	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatcagaatataaggtgagCcttatggaaaatgctgctaa	17	10	9	5	0	1	2	1	1	0	1	1	3	1	3	1	2	3	2	1	2	8	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140249438C>A	ENST00000398640.2	+	1	750	c.750C>A	c.(748-750)agC>agA	p.S250R	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGGTGAGCCTTATGGAAA	0.438													6	15					0.00116845	0.00120542	1	0	A	140249438	C	A	140249438	3	1	497	1	0	0	0	0	1	0	0	0	11592	738	26	4	752	4	PCDHA11	5	140249438	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	66770	140249438	40665822	85	96551											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755818	140755818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctggcacaagtcacGcctgctgcaggcttcgggag	7	6	15	13	3	1	0	1	0	0	0	2	1	1	1	1	3	3	6	1	3	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140755818G>A	ENST00000517434.1	+	1	2168	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGTCACGCCTGCTGCAG	0.647													33	128					0	0	0	0	A	140755818	G	A	140755818	3	1	497	1	0	0	0	0	1	0	0	0	11629	1087	38	1	2170	1	PCDHGA6	5	140755818	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	506380	140755818	40159442	86	96552											
C5orf46	389336	broad.mit.edu	37	chr5	147276594	147276594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccttcattatcatcaaattCcataaatcctcttgagaaaa	15	14	2	10	0	4	1	3	1	1	1	7	2	7	1	3	0	0	0	3	0	6	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:147276594C>G	ENST00000318315.4	-	3	226	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	C5orf46_ENST00000510432.1_Intron	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	76						extracellular region				NS(1)|lung(1)|prostate(1)	3						TCATCAAATTCCATAAATCCT	0.323													7	33					0	0	0	0	G	147276594	C	G	147276594	3	3	497	1	0	0	0	0	1	0	0	0	2326	864	30	2	41	2	C5orf46	5	147276594	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	6520776	147276594	33638666	87	96553											
PRPF4B	8899	broad.mit.edu	37	chr6	4044245	4044245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcataatctaatgacagttGaacagaataatggtgagaga	18	9	10	4	0	1	5	0	3	1	2	1	6	1	5	0	1	2	2	0	1	5	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:4044245G>C	ENST00000337659.6	+	6	1949	c.1849G>C	c.(1849-1851)Gaa>Caa	p.E617Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.E603Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	617						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AATGACAGTTGAACAGAATAA	0.403													13	71					0	0	0	0	C	4044245	G	C	4044245	3	2	497	1	0	0	0	0	1	0	0	0	12653	1291	45	2	1871	2	PRPF4B	6	4044245	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		4044245	167070822	88	96554											
NEDD9	4739	broad.mit.edu	37	chr6	11190781	11190781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattgatgtgtctttccaTatatccgtaacaccgccagt	9	15	6	11	2	2	1	1	1	1	0	4	1	4	1	4	0	1	1	4	0	3	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:11190781T>C	ENST00000379446.5	-	5	1487	c.1321A>G	c.(1321-1323)Atg>Gtg	p.M441V	NEDD9_ENST00000504387.1_Missense_Mutation_p.M441V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	441					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTCTTTCCATATATCCGTAA	0.522													12	42					0	0	0	0	C	11190781	T	C	11190781	3	2	497	1	0	0	0	0	1	0	0	0	10383	1406	49	5	1195	5	NEDD9	6	11190781	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	7146536	11190781	159924286	89	96555											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861360	27861360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcaaagagagttactctatCtacgtgtacaaggtgctgaa	13	10	10	8	2	2	2	0	1	2	1	2	3	2	2	0	1	4	4	0	1	7	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:27861360C>G	ENST00000303806.4	+	1	158	c.120C>G	c.(118-120)atC>atG	p.I40M		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	40					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I40M(1)									GTTACTCTATCTACGTGTACA	0.542													6	207					0	0	0	0	G	27861360	C	G	27861360	3	3	497	1	0	0	0	0	1	0	0	0	7204	903	32	2	122	2	HIST1H2BO	6	27861360	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	16670579	27861360	143253707	90	96556											
WDR46	9277	broad.mit.edu	37	chr6	33255197	33255197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactcggtcacagcggcggaTacagtggagctcaatgccct	9	8	12	12	3	2	0	2	0	0	0	3	2	2	2	1	4	5	1	1	4	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:33255197T>A	ENST00000374617.4	-	8	1170	c.814A>T	c.(814-816)Atc>Ttc	p.I272F		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	272										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAGCGGCGGATACAGTGGAGC	0.562													18	52					0	0	0	0	A	33255197	T	A	33255197	3	1	497	1	0	0	0	0	1	0	0	0	17395	1406	49	5	1050	5	WDR46	6	33255197	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	5393837	33255197	137859870	91	96557											
KCNK16	83795	broad.mit.edu	37	chr6	39284137	39284137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtgggaggatcagcGccagccacgccaggcccagg	8	2	16	15	2	1	0	1	0	0	0	1	2	1	2	5	5	2	0	5	5	0	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:39284137G>T	ENST00000373229.5	-	5	756	c.743C>A	c.(742-744)gCg>gAg	p.A248E	KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.A248E|KCNK16_ENST00000425054.2_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	248						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.A248V(1)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GAGGATCAGCGCCAGCCACGC	0.642													4	14					1.024e-07	1.11275e-07	1	0	T	39284137	G	T	39284137	3	4	497	1	0	0	0	0	1	0	0	0	8116	1087	38	3	579	3	KCNK16	6	39284137	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	6028940	39284137	131830930	92	96558											
MEA1	4201	broad.mit.edu	37	chr6	42980224	42980224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggtcacttccaggcagggGatgcctgccgggcttggagg	5	8	18	10	1	1	0	1	0	0	0	2	2	2	2	3	7	2	2	3	7	0	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:42980224G>A	ENST00000244711.3	-	4	696	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	181					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGGCAGGGGATGCCTGCCG	0.572													10	304					0	0	0	0	A	42980224	G	A	42980224	3	1	497	1	0	0	0	0	1	0	0	0	9489	1174	41	2	19	2	MEA1	6	42980224	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	3696087	42980224	128134843	93	96559											
GPR111	222611	broad.mit.edu	37	chr6	47649190	47649190	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgggcaccaccatatctGgagataacattggaaaaaat	16	9	8	8	0	1	1	0	0	1	1	1	3	1	2	2	3	1	1	2	3	6	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:47649190G>T	ENST00000398742.2	+	5	740	c.691G>T	c.(691-693)Gga>Tga	p.G231*	GPR111_ENST00000296862.1_Nonsense_Mutation_p.G299*|GPR111_ENST00000507065.1_Nonsense_Mutation_p.G231*			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	299					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACCATATCTGGAGATAACAT	0.378													17	115					1.5739e-10	1.73341e-10	1	0	T	47649190	G	T	47649190	4	4	497	1	0	0	0	0	0	1	0	0	6677	1349	47	4	709	4	GPR111	6	47649190	Nonsense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	4668966	47649190	123465877	94	96560											
COL19A1	1310	broad.mit.edu	37	chr6	70881889	70881889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatggggttgccaggattaGaaggatttccaggtgtaaag	12	10	14	5	0	0	1	0	0	0	1	1	3	1	3	2	5	1	2	2	5	5	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:70881889G>C	ENST00000322773.4	+	41	2704	c.2602G>C	c.(2602-2604)Gaa>Caa	p.E868Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.E490Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	868	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCAGGATTAGAAGGATTTCC	0.363													12	84					0	0	0	0	C	70881889	G	C	70881889	3	2	497	1	0	0	0	0	1	0	0	0	3706	943	33	2	2760	2	COL19A1	6	70881889	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	23232699	70881889	100233178	95	96561											
IMPG1	3617	broad.mit.edu	37	chr6	76713618	76713618	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacagcaaaagatgtgggCagctctgattgggtgtcagg	12	9	14	6	0	2	2	1	1	1	1	2	2	2	2	0	3	3	3	0	3	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:76713618C>A	ENST00000369950.3	-	11	1374	c.1185G>T	c.(1183-1185)ctG>ctT	p.L395L	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	395					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAGATGTGGGCAGCTCTGATT	0.383													8	68					0.00621372	0.00629091	1	0	A	76713618	C	A	76713618	2	1	497	1	0	0	0	0	0	0	0	1	7781	697	25	4		4	IMPG1	6	76713618	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	5831729	76713618	94401449	96	96562											
PRSS35	167681	broad.mit.edu	37	chr6	84234053	84234053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacttggaatcagcccaaCgatcaagaaaatgcctggtg	14	7	11	9	1	2	1	2	0	0	1	2	4	2	3	2	3	4	0	2	3	6	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:84234053C>T	ENST00000536636.1	+	3	1238	c.893C>T	c.(892-894)aCg>aTg	p.T298M	PRSS35_ENST00000369700.3_Missense_Mutation_p.T298M	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	298	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATCAGCCCAACGATCAAGAAA	0.483													35	65					0	0	0	0	T	84234053	C	T	84234053	3	4	497	1	0	0	0	0	1	0	0	0	12703	536	19	1	895	1	PRSS35	6	84234053	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	7520435	84234053	86881014	97	96563											
NT5E	4907	broad.mit.edu	37	chr6	86201737	86201737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccgaaaacctggagacaGagtagtcaaattagatgttc	14	10	9	8	1	1	3	1	0	0	3	3	5	2	3	2	1	1	2	2	1	5	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:86201737G>C	ENST00000257770.3	+	8	1452	c.1403G>C	c.(1402-1404)aGa>aCa	p.R468T	NT5E_ENST00000369651.3_Missense_Mutation_p.R418T	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	468					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CCTGGAGACAGAGTAGTCAAA	0.423													27	243					0	0	0	0	C	86201737	G	C	86201737	3	2	497	1	0	0	0	0	1	0	0	0	10764	942	33	2	1433	2	NT5E	6	86201737	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1967684	86201737	84913330	98	96564											
GRIK2	2898	broad.mit.edu	37	chr6	102503435	102503436	+	Frame_Shift_Ins	INS	-	-	T																															atttttatacaaatccaaaaINSaaaacgctcaattggaaaag																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:102503435_102503436insT	ENST00000369138.1	+	15	3032_3033	c.2542_2543insT	c.(2542-2544)aaafs	p.K848fs	GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K772fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K799fs|GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K848fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	848					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CAAATCCAAAAAAAACGCTCAA	0.342													19	168	---	---	---	---					T	102503436	-	T	102503435	7	5	497	1	0	1	1	0	0	0	0	0	6824	15	1	0	2600	0	GRIK2	6	102503435	Frame_Shift_Ins	INS	-	TCGA-UF-A7JA-01A-12D-A34J-08	16301698	102503435	68611632	99	96565											
LAMA2	3908	broad.mit.edu	37	chr6	129781386	129781386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attacattcactggctgcatGggagaaacatactttgacaa	14	11	8	8	0	1	2	1	1	0	1	1	3	1	2	0	2	4	2	0	2	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:129781386G>A	ENST00000421865.2	+	49	6958	c.6909G>A	c.(6907-6909)atG>atA	p.M2303I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2303	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGCTGCATGGGAGAAACAT	0.388													12	156					0	0	0	0	A	129781386	G	A	129781386	3	1	497	1	0	0	0	0	1	0	0	0	8659	1348	47	4	7103	4	LAMA2	6	129781386	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	27277951	129781386	41333681	100	96566											
MAP3K5	4217	broad.mit.edu	37	chr6	136913455	136913455	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaggaggagcactgtgAtcttcaaaattctcatctgg	11	10	13	7	0	4	1	2	1	3	0	5	4	4	4	0	5	1	1	0	5	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:136913455A>G	ENST00000359015.4	-	23	3441	c.3081T>C	c.(3079-3081)gaT>gaC	p.D1027D	MAP3K5_ENST00000355845.4_Silent_p.D274D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1027					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGCACTGTGATCTTCAAAAT	0.438													28	259					0	0	0	0	G	136913455	A	G	136913455	2	3	497	1	0	0	0	0	0	0	0	1	9322	330	12	5		5	MAP3K5	6	136913455	Silent	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	7132069	136913455	34201612	101	96567											
TNFAIP3	7128	broad.mit.edu	37	chr6	138202346	138202346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accggggtgagcctgcccccGaagacccccccaagcagcgt	8	3	12	18	3	0	2	0	1	0	1	0	3	0	2	7	2	4	1	7	2	2	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:138202346G>A	ENST00000237289.4	+	9	2329	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	755	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCCTGCCCCCGAAGACCCCCC	0.622			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								29	158					0	0	0	0	A	138202346	G	A	138202346	3	1	497	1	0	0	0	0	1	0	0	0	16368	1059	37	1	2293	1	TNFAIP3	6	138202346	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1288891	138202346	32912721	102	96568											
RSPH3	83861	broad.mit.edu	37	chr6	159403538	159403538	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcttctcggtgtcgcctCtcttgctcttcaagtcgttg	2	19	8	12	3	5	0	1	0	4	0	9	0	5	0	1	1	1	2	1	1	1	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:159403538C>G	ENST00000367069.2	-	5	1311	c.675G>C	c.(673-675)gaG>gaC	p.E225D	RSPH3_ENST00000449822.1_Missense_Mutation_p.E129D|RSPH3_ENST00000252655.1_Missense_Mutation_p.E367D|RSPH3_ENST00000297262.3_Missense_Mutation_p.E271D			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	367										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGTGTCGCCTCTCTTGCTCTT	0.398													4	116					0	0	0	0	G	159403538	C	G	159403538	3	3	497	1	0	0	0	0	1	0	0	0	13790	912	32	2	597	2	RSPH3	6	159403538	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	21201192	159403538	11711529	103	96569											
MLLT4	4301	broad.mit.edu	37	chr6	168369850	168369850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggagcccatgacgcctgtCgggatgcaaaagagaagcgc	11	6	14	10	3	0	2	0	1	0	1	1	5	0	4	2	2	3	1	2	2	3	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:168369850C>T	ENST00000366806.2	+	33	5435	c.5293C>T	c.(5293-5295)Cgg>Tgg	p.R1765W	MLLT4_ENST00000351017.4_Missense_Mutation_p.R1772W|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1765W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1775W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1684W			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1765					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGACGCCTGTCGGGATGCAAA	0.468			T	MLL	AL								4	55					0	0	0	0	T	168369850	C	T	168369850	3	4	497	1	0	0	0	0	1	0	0	0	9698	875	31	1	5546	1	MLLT4	6	168369850	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	8966312	168369850	2745217	104	96570											
DGKB	1607	broad.mit.edu	37	chr7	14188846	14188846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagcattggggcttggttCttgtgtgtaatttttatcta	7	19	10	5	0	3	0	1	0	2	0	3	0	3	0	0	3	1	4	0	3	3	9			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:14188846C>G	ENST00000403951.2	-	26	2744	c.2325G>C	c.(2323-2325)aaG>aaC	p.K775N	DGKB_ENST00000258767.5_Missense_Mutation_p.K775N|DGKB_ENST00000402815.1_Missense_Mutation_p.K774N|DGKB_ENST00000399322.3_Missense_Mutation_p.K775N|DGKB_ENST00000444700.2_Missense_Mutation_p.K756N|DGKB_ENST00000407950.1_Missense_Mutation_p.K767N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	775					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GGGCTTGGTTCTTGTGTGTAA	0.413													24	112					0	0	0	0	G	14188846	C	G	14188846	3	3	497	1	0	0	0	0	1	0	0	0	4503	912	32	2	93	2	DGKB	7	14188846	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08		14188846	144949817	105	96571											
WBSCR17	64409	broad.mit.edu	37	chr7	71130575	71130575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatagcgtggaacctgccGctggaggtagggatcaccag	10	7	14	10	2	1	0	1	0	0	0	1	3	1	3	3	4	4	2	3	4	4	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:71130575G>A	ENST00000333538.5	+	7	1894	c.1260G>A	c.(1258-1260)ccG>ccA	p.P420P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	420						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P420P(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAACCTGCCGCTGGAGGTAG	0.478													10	51					0	0	0	0	A	71130575	G	A	71130575	2	1	497	1	0	0	0	0	0	0	0	1	17360	1074	38	1		1	WBSCR17	7	71130575	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	56941729	71130575	88008088	106	96572											
CACNA2D1	781	broad.mit.edu	37	chr7	81589082	81589082	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtgtgtcacatggacatgtCcctttgctctcaaccattat	8	14	7	12	1	2	0	2	0	1	0	4	1	3	1	2	1	2	1	2	1	2	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:81589082C>G	ENST00000356860.3	-	37	3368	c.3030G>C	c.(3028-3030)ggG>ggC	p.G1010G	CACNA2D1_ENST00000535308.1_Silent_p.G222G|CACNA2D1_ENST00000356253.5_Silent_p.G1022G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1022						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATGGACATGTCCCTTTGCTCT	0.373													15	59					0	0	0	0	G	81589082	C	G	81589082	2	3	497	1	0	0	0	0	0	0	0	1	2573	842	30	2		2	CACNA2D1	7	81589082	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	10458507	81589082	77549581	107	96573											
GRM3	2913	broad.mit.edu	37	chr7	86468859	86468859	+	Missense_Mutation	SNP	G	G	T																															tcgatggggtcaagaatggcGctcagaggccaaaattcatc																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86468859G>T	ENST00000361669.2	+	4	3128	c.2029G>T	c.(2029-2031)Gct>Tct	p.A677S	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A269S|GRM3_ENST00000536043.1_Missense_Mutation_p.A549S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	677					synaptic transmission	integral to plasma membrane		p.A677T(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)	CAAGAATGGCGCTCAGAGGCC	0.547													14	95					3.27435e-08	3.57003e-08	1	0	T	86468859	G	T	86468859	3	4	497	1	0	0	0	0	1	0	0	0	6848	1087	38	3	2039	3	GRM3	7	86468859	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	4879777	86468859	72669804	108	96574	1155	2									
GRM3	2913	broad.mit.edu	37	chr7	86468860	86468860	+	Missense_Mutation	SNP	C	C	T																															cgatggggtcaagaatggcgCtcagaggccaaaattcatca																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86468860C>T	ENST00000361669.2	+	4	3129	c.2030C>T	c.(2029-2031)gCt>gTt	p.A677V	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A269V|GRM3_ENST00000536043.1_Missense_Mutation_p.A549V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	677					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAGAATGGCGCTCAGAGGCCA	0.547													12	96					0	0	0	0	T	86468860	C	T	86468860	3	4	497	1	0	0	0	0	1	0	0	0	6848	797	28	4	2040	4	GRM3	7	86468860	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1	86468860	72669803	109	96575	1155	2									
KIAA1324L	222223	broad.mit.edu	37	chr7	86537765	86537765	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagcatcttcacttacttAtaaaagaaatgcacatctgg	16	11	5	9	0	3	1	1	0	2	1	3	1	3	1	0	1	4	2	0	1	6	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86537765A>G	ENST00000450689.2	-	17	2639	c.2454T>C	c.(2452-2454)taT>taC	p.Y818Y	KIAA1324L_ENST00000416314.1_Silent_p.Y651Y|KIAA1324L_ENST00000444627.1_Silent_p.Y747Y|KIAA1324L_ENST00000297222.6_Silent_p.Y578Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	818						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCACTTACTTATAAAAGAAAT	0.294													18	99					0	0	0	0	G	86537765	A	G	86537765	2	3	497	1	0	0	0	0	0	0	0	1	8275	456	16	5		5	KIAA1324L	7	86537765	Silent	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	68905	86537765	72600898	110	96576											
ADAM22	53616	broad.mit.edu	37	chr7	87746076	87746076	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggatttccattttcAttcagtttacaaatccagac	12	14	6	9	0	3	1	3	0	0	1	5	3	5	3	2	2	1	1	2	2	2	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:87746076A>C	ENST00000398204.4	+	7	877	c.554A>C	c.(553-555)cAt>cCt	p.H185P	ADAM22_ENST00000398209.3_Missense_Mutation_p.H185P|ADAM22_ENST00000398201.4_Missense_Mutation_p.H185P|ADAM22_ENST00000265727.7_Missense_Mutation_p.H185P|ADAM22_ENST00000315984.7_Missense_Mutation_p.H185P|ADAM22_ENST00000439864.1_Missense_Mutation_p.H185P	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	185					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCATTTTCATTCAGTTTAC	0.363													9	55					0	0	0	0	C	87746076	A	C	87746076	3	2	497	1	0	0	0	0	1	0	0	0	244	217	8	5	580	5	ADAM22	7	87746076	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	1208311	87746076	71392587	111	96577											
AKAP9	10142	broad.mit.edu	37	chr7	91651660	91651660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagatgaccaatttggaaGacattggtaaattttgatca	14	13	8	6	0	2	4	2	2	0	2	2	5	2	5	1	2	0	1	1	2	4	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:91651660G>A	ENST00000359028.2	+	14	4207	c.3982G>A	c.(3982-3984)Gac>Aac	p.D1328N	AKAP9_ENST00000358100.2_Missense_Mutation_p.D1328N|AKAP9_ENST00000356239.3_Missense_Mutation_p.D1316N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1328					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATTTGGAAGACATTGGTAA	0.328			T	BRAF	papillary thyroid								23	67					0	0	0	0	A	91651660	G	A	91651660	3	1	497	1	0	0	0	0	1	0	0	0	459	942	33	2	3996	2	AKAP9	7	91651660	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	3905584	91651660	67487003	112	96578											
KRIT1	889	broad.mit.edu	37	chr7	91852190	91852190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctgagtttcttgagagaGacgcattccttccattatct	8	16	8	9	1	2	3	0	2	2	2	4	5	4	3	2	0	1	3	2	0	1	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:91852190G>C	ENST00000394507.1	-	14	2140	c.1357C>G	c.(1357-1359)Ctc>Gtc	p.L453V	KRIT1_ENST00000394505.2_Missense_Mutation_p.L453V|KRIT1_ENST00000412043.2_Missense_Mutation_p.L453V|KRIT1_ENST00000340022.2_Missense_Mutation_p.L453V|KRIT1_ENST00000394503.2_Missense_Mutation_p.L405V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	453	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTTGAGAGAGACGCATTCCT	0.333													9	79					0	0	0	0	C	91852190	G	C	91852190	3	2	497	1	0	0	0	0	1	0	0	0	8497	942	33	2	881	2	KRIT1	7	91852190	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	200530	91852190	67286473	113	96579											
CCDC132	55610	broad.mit.edu	37	chr7	92970836	92970836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacctagtggttttgacatCtggggatacgctgtatgggt	7	14	13	7	1	2	1	1	1	1	0	2	2	2	2	1	4	1	3	1	4	3	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:92970836C>G	ENST00000544910.1	+	24	2286	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.S439C|CCDC132_ENST00000305866.5_Missense_Mutation_p.S719C|CCDC132_ENST00000541136.1_Missense_Mutation_p.S530C	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	719										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTTTGACATCTGGGGATACG	0.453													11	101					0	0	0	0	G	92970836	C	G	92970836	3	3	497	1	0	0	0	0	1	0	0	0	2792	913	32	2	2288	2	CCDC132	7	92970836	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1118646	92970836	66167827	114	96580											
MCM7	4176	broad.mit.edu	37	chr7	99693551	99693551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccaggatggagcagcGggcattgagtgtggtgagaa	10	6	19	6	1	0	2	0	2	0	1	0	5	0	4	1	5	3	3	1	5	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:99693551G>A	ENST00000303887.5	-	11	2086	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.R305C	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	481	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATGGAGCAGCGGGCATTGAGT	0.632													10	92					0	0	0	0	A	99693551	G	A	99693551	3	1	497	1	0	0	0	0	1	0	0	0	9461	1116	39	1	738	1	MCM7	7	99693551	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	6722715	99693551	59445112	115	96581											
SLC26A4	5172	broad.mit.edu	37	chr7	107353039	107353039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatagaaacagagctgaCggaagaagaacttgatgtcc	17	8	10	6	1	0	6	0	2	0	4	1	7	1	7	1	1	3	1	1	1	6	3	rs150597240		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:107353039C>T	ENST00000265715.3	+	20	2515	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	SLC26A4_ENST00000544569.1_Missense_Mutation_p.T351M|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T325M|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T333M	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	764					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						ACAGAGCTGACGGAAGAAGAA	0.323									Pendred syndrome				4	137					0	0	0	0	T	107353039	C	T	107353039	3	4	497	1	0	0	0	0	1	0	0	0	14607	536	19	1	2365	1	SLC26A4	7	107353039	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	7659488	107353039	51785624	116	96582											
ZNF277	11179	broad.mit.edu	37	chr7	111977804	111977804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgactggtctgattgggaaGaacaccctgcctctgcagtc	8	10	12	11	0	2	3	0	2	2	1	3	4	2	4	2	2	3	1	2	2	2	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:111977804G>A	ENST00000361822.3	+	9	1018	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	297						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGATTGGGAAGAACACCCTGC	0.388													7	130					0	0	0	0	A	111977804	G	A	111977804	3	1	497	1	0	0	0	0	1	0	0	0	17907	943	33	2	923	2	ZNF277	7	111977804	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	4624765	111977804	47160859	117	96583											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518001	113518001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaagactagtagaagcaGagctgtcagattccttttca	13	10	10	8	0	2	4	2	0	0	4	3	5	3	5	1	1	2	3	1	1	4	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:113518001G>A	ENST00000284601.3	-	4	3214	c.3146C>T	c.(3145-3147)tCt>tTt	p.S1049F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1049					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTAGAAGCAGAGCTGTCAGA	0.373													20	244					0	0	0	0	A	113518001	G	A	113518001	3	1	497	1	0	0	0	0	1	0	0	0	12447	942	33	2	226	2	PPP1R3A	7	113518001	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1540197	113518001	45620662	118	96584											
GPR37	2861	broad.mit.edu	37	chr7	124404637	124404637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccctctccccaaagtttCagaaggctcctgaccccgag	8	9	8	16	1	2	2	1	1	1	1	5	3	4	2	6	1	0	3	6	1	2	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:124404637C>T	ENST00000303921.2	-	1	1044	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	132						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCAAAGTTTCAGAAGGCTCC	0.662													18	136					0	0	0	0	T	124404637	C	T	124404637	3	4	497	1	0	0	0	0	1	0	0	0	6740	835	29	2	1455	2	GPR37	7	124404637	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	10886636	124404637	34734026	119	96585											
SNTG1	54212	broad.mit.edu	37	chr8	51449336	51449336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctacttcattcgcgcttCtctcagtatgtgcccggcac	5	13	7	16	3	4	0	2	0	2	0	6	0	4	0	2	1	2	3	2	1	2	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:51449336C>G	ENST00000522124.1	+	11	1309	c.648C>G	c.(646-648)ttC>ttG	p.F216L	SNTG1_ENST00000517473.1_Missense_Mutation_p.F216L|SNTG1_ENST00000518864.1_Missense_Mutation_p.F216L|SNTG1_ENST00000276467.5_Missense_Mutation_p.F216L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	216					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTCGCGCTTCTCTCAGTATG	0.483													20	216					0	0	0	0	G	51449336	C	G	51449336	3	3	497	1	0	0	0	0	1	0	0	0	14962	912	32	2	682	2	SNTG1	8	51449336	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08		51449336	94914686	120	96586											
SNTG1	54212	broad.mit.edu	37	chr8	51449368	51449368	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccggcacagatttgagtcGgtgagtccgtgtttaggagt	7	11	15	8	3	0	3	0	2	0	1	2	4	1	4	2	3	0	2	2	3	1	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:51449368G>A	ENST00000522124.1	+	11	1341	c.680_splice	c.e11+1	p.R227_splice	SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	227					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATTTGAGTCGGTGAGTCCGT	0.438													10	209					0	0	0	0	A	51449368	G	A	51449368	5	1	497	1	0	0	0	0	0	0	1	0	14962	1130	39	1	714	1	SNTG1	8	51449368	Splice_Site	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	32	51449368	94914654	121	96587											
TRPA1	8989	broad.mit.edu	37	chr8	72935163	72935163	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggctcaagatggtgtgttTttgccttgactgctctcaac	8	14	10	9	0	2	2	2	1	1	1	3	2	2	2	1	2	3	3	1	2	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:72935163T>G	ENST00000262209.4	-	27	3545	c.3338A>C	c.(3337-3339)aAa>aCa	p.K1113T	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1113						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGGTGTGTTTTTGCCTTGAC	0.423													11	93					0	0	0	0	G	72935163	T	G	72935163	3	3	497	1	0	0	0	0	1	0	0	0	16672	1841	64	5	25	5	TRPA1	8	72935163	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	21485795	72935163	73428859	122	96588											
LRRCC1	85444	broad.mit.edu	37	chr8	86037123	86037123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagaatcagaaaagccaaaGactgaaataattaaagtaga	23	6	7	5	0	1	5	1	1	0	4	1	5	1	5	1	0	1	1	1	0	10	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:86037123G>C	ENST00000414626.2	+	7	2050	c.1161G>C	c.(1159-1161)aaG>aaC	p.K387N	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K407N			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	407					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAAGCCAAAGACTGAAATAA	0.299													18	290					0	0	0	0	C	86037123	G	C	86037123	3	2	497	1	0	0	0	0	1	0	0	0	9090	933	33	2	1251	2	LRRCC1	8	86037123	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	13101960	86037123	60326899	123	96589											
TSPYL5	85453	broad.mit.edu	37	chr8	98289592	98289592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccaccagctatgacctGaggccccctccccgcggtgc	5	6	9	21	2	0	2	0	2	0	0	2	2	2	2	8	2	2	1	8	2	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:98289592G>C	ENST00000322128.3	-	1	584	c.481C>G	c.(481-483)Cag>Gag	p.Q161E		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	161					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCTATGACCTGAGGCCCCCTC	0.642													18	98					0	0	0	0	C	98289592	G	C	98289592	3	2	497	1	0	0	0	0	1	0	0	0	16757	1299	45	2	776	2	TSPYL5	8	98289592	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	12252469	98289592	48074430	124	96590											
VPS13B	157680	broad.mit.edu	37	chr8	100673707	100673707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactacagattaaagactttCtgaatggaccaggtaagaaa	17	9	8	7	0	1	4	0	1	1	3	1	5	1	5	1	2	1	1	1	2	6	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:100673707C>G	ENST00000358544.2	+	35	6220	c.6109C>G	c.(6109-6111)Ctg>Gtg	p.L2037V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2012V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2037					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAAAGACTTTCTGAATGGACC	0.338													8	65					0	0	0	0	G	100673707	C	G	100673707	3	3	497	1	0	0	0	0	1	0	0	0	17286	912	32	2	6437	2	VPS13B	8	100673707	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	2384115	100673707	45690315	125	96591											
CSMD3	114788	broad.mit.edu	37	chr8	113266510	113266510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaatgtattgttctgagatCcatgccgaggcacacctggg	9	10	12	10	2	1	1	0	1	1	1	2	4	2	1	3	2	1	3	3	2	2	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:113266510C>A	ENST00000297405.5	-	63	10326	c.10082G>T	c.(10081-10083)gGa>gTa	p.G3361V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3291V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3321V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3192V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3361	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTCTGAGATCCATGCCGAGG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	246					8.12818e-05	8.46578e-05	1	0	A	113266510	C	A	113266510	3	1	497	1	0	0	0	0	1	0	0	0	3978	855	30	2	1077	2	CSMD3	8	113266510	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	12592803	113266510	33097512	126	96592											
CSMD3	114788	broad.mit.edu	37	chr8	113988224	113988224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagactcgtaacttgcactCgctgttcctcggaaagtcta	9	12	9	11	3	1	1	0	1	1	1	5	3	2	2	1	1	2	4	1	1	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:113988224C>T	ENST00000297405.5	-	7	1428	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R395Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R355Q|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	395						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTTGCACTCGCTGTTCCTC	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	193					0	0	0	0	T	113988224	C	T	113988224	3	4	497	1	0	0	0	0	1	0	0	0	3978	884	31	1	10199	1	CSMD3	8	113988224	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	721714	113988224	32375798	127	96593											
CSMD3	114788	broad.mit.edu	37	chr8	114326972	114326972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatggaaaaccagggctttCtatagtgccattaagtcctt	12	13	8	8	0	1	0	0	0	1	0	2	1	2	1	3	2	2	1	3	2	6	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:114326972C>G	ENST00000297405.5	-	2	473	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.E77Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.E37Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.E77Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	77	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAGGGCTTTCTATAGTGCCA	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			42	362					0	0	0	0	G	114326972	C	G	114326972	3	3	497	1	0	0	0	0	1	0	0	0	3978	922	32	2	11174	2	CSMD3	8	114326972	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	338748	114326972	32037050	128	96594											
ZHX1	11244	broad.mit.edu	37	chr8	124267752	124267752	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcagatcatttattgtttgTtcaaagattgtctggttatt	9	20	8	4	0	4	2	3	0	1	2	4	2	4	2	0	1	0	3	0	1	3	8			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:124267752T>C	ENST00000395571.3	-	3	1052	c.435A>G	c.(433-435)gaA>gaG	p.E145E	ZHX1_ENST00000297857.2_Silent_p.E145E|ZHX1_ENST00000522655.1_Silent_p.E145E|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	145					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTATTGTTTGTTCAAAGATTG	0.348													35	175					0	0	0	0	C	124267752	T	C	124267752	2	2	497	1	0	0	0	0	0	0	0	1	17770	1722	60	5		5	ZHX1	8	124267752	Silent	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	9940780	124267752	22096270	129	96595											
KLHL38	340359	broad.mit.edu	37	chr8	124658219	124658219	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttcatgtccgcacatttGacaaatttgttggattgagg	9	16	9	7	1	2	2	1	2	1	0	3	3	3	3	1	2	0	2	1	2	1	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:124658219G>C	ENST00000325995.7	-	3	1529	c.1506C>G	c.(1504-1506)gtC>gtG	p.V502V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	502										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCGCACATTTGACAAATTTGT	0.522													9	127					0	0	0	0	C	124658219	G	C	124658219	2	2	497	1	0	0	0	0	0	0	0	1	8442	1277	45	2		2	KLHL38	8	124658219	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	390467	124658219	21705803	130	96596											
GRINA	2907	broad.mit.edu	37	chr8	145065441	145065441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggacaactatcctccccCcaaccctggatatccggggg	8	7	11	15	1	0	0	0	0	0	0	3	2	3	2	6	5	2	0	6	5	4	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:145065441C>T	ENST00000313269.5	+	2	328	c.50C>T	c.(49-51)cCc>cTc	p.P17L	GRINA_ENST00000395068.4_Missense_Mutation_p.P17L	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	17	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TATCCTCCCCCCAACCCTGGA	0.632													9	43					0	0	0	0	T	145065441	C	T	145065441	3	4	497	1	0	0	0	0	1	0	0	0	6835	623	22	4	52	4	GRINA	8	145065441	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	20407222	145065441	1298581	131	96597											
IFNA21	3452	broad.mit.edu	37	chr9	21166339	21166339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagatgagtcctttgtgctGaagagattgaaggtctgctg	9	12	14	6	0	1	5	0	3	1	2	2	6	2	5	1	1	2	3	1	1	2	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:21166339G>A	ENST00000380225.1	-	1	320	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	91					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTTTGTGCTGAAGAGATTGA	0.488													23	183					0	0	0	0	A	21166339	G	A	21166339	2	1	497	1	0	0	0	0	0	0	0	1	7591	1281	45	2		2	IFNA21	9	21166339	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		21166339	120047092	132	96598											
PRKACG	5568	broad.mit.edu	37	chr9	71628163	71628163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccgttcctgaggtttccGaagcgcttggtgaggtccac	6	10	12	13	3	0	2	0	2	0	0	3	3	3	2	5	3	1	3	5	3	1	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:71628163G>A	ENST00000377276.2	-	1	876	c.846C>T	c.(844-846)ttC>ttT	p.F282F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	282	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAGGTTTCCGAAGCGCTTGG	0.567													9	131					0	0	0	0	A	71628163	G	A	71628163	2	1	497	1	0	0	0	0	0	0	0	1	12579	1049	37	1		1	PRKACG	9	71628163	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	50461824	71628163	69585268	133	96599											
TMC1	117531	broad.mit.edu	37	chr9	75435766	75435766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttctttctaggatgggctCcttctttgctcccagcctcc	3	17	7	14	0	3	0	0	0	3	0	6	1	6	1	4	2	2	2	4	2	1	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:75435766C>T	ENST00000297784.5	+	20	2312	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	TMC1_ENST00000340019.3_Missense_Mutation_p.S591F|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.S591F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	591					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGGATGGGCTCCTTCTTTGCT	0.463													4	96					0	0	0	0	T	75435766	C	T	75435766	3	4	497	1	0	0	0	0	1	0	0	0	16078	855	30	2	1834	2	TMC1	9	75435766	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	3807603	75435766	65777665	134	96600											
VPS13A	23230	broad.mit.edu	37	chr9	79954477	79954477	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgaaggacattcagccCagatttgtactgcacagttg	12	11	10	8	0	1	2	1	1	0	1	1	3	1	3	1	1	3	3	1	1	3	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:79954477C>T	ENST00000360280.3	+	48	6684	c.6424C>T	c.(6424-6426)Cag>Tag	p.Q2142*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q2103*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q2142*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q2142*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2142					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACATTCAGCCCAGATTTGTAC	0.308													3	9					0	0	0	0	T	79954477	C	T	79954477	4	4	497	1	0	0	0	0	0	1	0	0	17285	595	21	4	6614	4	VPS13A	9	79954477	Nonsense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	4518711	79954477	61258954	135	96601											
TLE4	7091	broad.mit.edu	37	chr9	82335048	82335048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagtactttgtccattTgggacctggcggctccaacc	8	10	10	13	1	0	0	0	0	0	0	2	1	2	1	5	3	3	2	5	3	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:82335048T>C	ENST00000376520.4	+	17	2602	c.1774T>C	c.(1774-1776)Tgg>Cgg	p.W592R	TLE4_ENST00000376552.2_Missense_Mutation_p.W560R|TLE4_ENST00000265284.6_Missense_Mutation_p.W535R|TLE4_ENST00000376537.4_Missense_Mutation_p.W592R|TLE4_ENST00000376534.4_Missense_Mutation_p.W197R|TLE4_ENST00000376544.3_Missense_Mutation_p.W491R			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										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						TTTGTCCATTTGGGACCTGGC	0.567													32	55					0	0	0	0	C	82335048	T	C	82335048	3	2	497	1	0	0	0	0	1	0	0	0	16035	1812	63	5	1740	5	TLE4	9	82335048	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	2380571	82335048	58878383	136	96602											
SEMA4D	10507	broad.mit.edu	37	chr9	91994243	91994243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaacaactgacaaggtgggGgccactacgggctttggaac	11	7	14	9	1	0	2	0	2	0	0	0	3	0	3	1	5	4	1	1	5	5	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:91994243G>T	ENST00000450295.1	-	16	2741	c.1965C>A	c.(1963-1965)gcC>gcA	p.A655A	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000438547.2_Silent_p.A655A|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Silent_p.A655A|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.A655A			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	655					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACAAGGTGGGGGCCACTACGG	0.562													61	228					1.24741e-17	1.41691e-17	1	0	T	91994243	G	T	91994243	2	4	497	1	0	0	0	0	0	0	0	1	14121	1219	43	4		4	SEMA4D	9	91994243	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	9659195	91994243	49219188	137	96603											
ZNF462	58499	broad.mit.edu	37	chr9	109685854	109685854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagttttcttctataaagGatgaatttgccattgcagaa	12	15	9	5	0	2	2	0	1	2	1	2	4	2	4	1	2	2	2	1	2	5	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:109685854G>T	ENST00000277225.5	+	2	479	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.D64Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.D64Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	64					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCTATAAAGGATGAATTTGC	0.418													11	129					0.00010058	0.000104424	1	0	T	109685854	G	T	109685854	3	4	497	1	0	0	0	0	1	0	0	0	18021	1174	41	2	192	2	ZNF462	9	109685854	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	17691611	109685854	31527577	138	96604											
RGS3	5998	broad.mit.edu	37	chr9	116357928	116357928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcactgagttcagtgaggaGaatctggagttctggttggc	8	11	15	7	1	3	3	1	2	2	1	3	5	3	4	0	4	0	4	0	4	1	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:116357928G>C	ENST00000374140.2	+	25	3503	c.3294G>C	c.(3292-3294)gaG>gaC	p.E1098D	RGS3_ENST00000350696.5_Missense_Mutation_p.E1098D|RGS3_ENST00000374134.3_Missense_Mutation_p.E419D|RGS3_ENST00000342620.5_Missense_Mutation_p.E68D|RGS3_ENST00000343817.5_Missense_Mutation_p.E817D|RGS3_ENST00000462143.1_Missense_Mutation_p.E419D|RGS3_ENST00000394646.3_Missense_Mutation_p.E491D|RGS3_ENST00000462403.1_Missense_Mutation_p.E211D	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1098	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCAGTGAGGAGAATCTGGAGT	0.517													6	130					0	0	0	0	C	116357928	G	C	116357928	3	2	497	1	0	0	0	0	1	0	0	0	13389	933	33	2	4064	2	RGS3	9	116357928	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	6672074	116357928	24855503	139	96605											
CAMSAP1	157922	broad.mit.edu	37	chr9	138742206	138742206	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagcatatcttccaaggTgagataaaaacatttattaa	18	12	5	6	0	1	1	0	1	1	1	2	2	2	1	1	1	3	1	1	1	8	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:138742206T>A	ENST00000389532.4	-	6	974	c.910A>T	c.(910-912)Acc>Tcc	p.T304S	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T315S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T26S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	304	CH.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCTTCCAAGGTGAGATAAAAA	0.353													7	129					0	0	0	0	A	138742206	T	A	138742206	3	1	497	1	0	0	0	0	1	0	0	0	2636	1696	59	5	3946	5	CAMSAP1	9	138742206	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	22384278	138742206	2471225	140	96606											
ARRDC1	92714	broad.mit.edu	37	chr9	140509015	140509015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcaatcctgtccaggtctCtctgaaggcgccggaagcta	8	9	10	14	2	3	1	1	1	2	0	6	2	5	2	4	3	1	1	4	3	4	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:140509015C>G	ENST00000371421.4	+	7	864	c.800C>G	c.(799-801)tCt>tGt	p.S267C	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	267										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GTCCAGGTCTCTCTGAAGGCG	0.627													4	119					0	0	0	0	G	140509015	C	G	140509015	3	3	497	1	0	0	0	0	1	0	0	0	986	913	32	2	826	2	ARRDC1	9	140509015	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1766809	140509015	704416	141	96607											
MCM10	55388	broad.mit.edu	37	chr10	13213059	13213059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatgagctctttgatgccGacggcgacggtgaatcttat	8	13	12	8	4	2	4	0	4	2	0	2	6	2	4	1	2	2	1	1	2	2	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:13213059G>A	ENST00000378694.1	+	2	220	c.145G>A	c.(145-147)Gac>Aac	p.D49N	MCM10_ENST00000378714.3_Missense_Mutation_p.D49N|MCM10_ENST00000484800.2_Missense_Mutation_p.D49N			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	49					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTTTGATGCCGACGGCGACGG	0.458													6	217					0	0	0	0	A	13213059	G	A	13213059	3	1	497	1	0	0	0	0	1	0	0	0	9454	1058	37	1	151	1	MCM10	10	13213059	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		13213059	122321688	142	96608											
SPAG6	9576	broad.mit.edu	37	chr10	22653828	22653828	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggacgtggtcccaacAattcaacagactgctgcttt	9	12	8	12	1	2	1	1	0	1	1	3	2	3	2	1	2	4	2	1	2	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:22653828A>T	ENST00000376603.2	+	3	538	c.396A>T	c.(394-396)acA>acT	p.T132T	SPAG6_ENST00000376601.1_Silent_p.T56T|SPAG6_ENST00000376624.3_Silent_p.T56T|SPAG6_ENST00000313311.6_Silent_p.T56T|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Silent_p.T31T			O75602	SPAG6_HUMAN	sperm associated antigen 6	56					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGGTCCCAACAATTCAACAGA	0.393													12	92					0	0	0	0	T	22653828	A	T	22653828	2	4	497	1	0	0	0	0	0	0	0	1	15072	117	5	5		5	SPAG6	10	22653828	Silent	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	9440769	22653828	112880919	143	96609											
GAD2	2572	broad.mit.edu	37	chr10	26513478	26513478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatttcaggttcacctatGaaattgctccagtatttgtg	10	16	7	8	0	2	1	2	1	0	0	3	1	3	1	2	1	2	3	2	1	4	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:26513478G>A	ENST00000376261.3	+	6	1125	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	GAD2_ENST00000376248.1_Missense_Mutation_p.E94K|GAD2_ENST00000259271.3_Missense_Mutation_p.E208K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	208					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			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)	GTTCACCTATGAAATTGCTCC	0.373													5	66					0	0	0	0	A	26513478	G	A	26513478	3	1	497	1	0	0	0	0	1	0	0	0	6228	1291	45	2	644	2	GAD2	10	26513478	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	3859650	26513478	109021269	144	96610											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508303	37508303	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaaaagtcaagaaccTgctttccacattgcaggaga	16	8	8	9	0	2	3	2	0	0	3	3	4	3	3	2	1	3	2	2	1	5	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:37508303T>C	ENST00000374660.1	+	40	3951	c.3852T>C	c.(3850-3852)ccT>ccC	p.P1284P	ANKRD30A_ENST00000361713.1_Silent_p.P1165P|ANKRD30A_ENST00000602533.1_Silent_p.P1165P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1221						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTCAAGAACCTGCTTTCCACA	0.388													11	98					0	0	0	0	C	37508303	T	C	37508303	2	2	497	1	0	0	0	0	0	0	0	1	658	1567	55	5		5	ANKRD30A	10	37508303	Silent	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	10994825	37508303	98026444	145	96611											
BMS1	9790	broad.mit.edu	37	chr10	43318566	43318566	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatcttgctatacctgtagGgaatgtttaattctgccttg	8	18	8	7	0	2	0	0	0	2	0	2	1	2	1	2	1	3	3	2	1	6	9			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:43318566G>A	ENST00000374518.4	+	20	3196	c.3132_splice	c.e20-1	p.G1045_splice		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388													4	131					0	0	0	0	A	43318566	G	A	43318566	5	1	497	1	0	0	0	0	0	0	1	0	1477	1246	43	4	3207	4	BMS1	10	43318566	Splice_Site	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	5810263	43318566	92216181	146	96612											
CDH23	64072	broad.mit.edu	37	chr10	73569667	73569667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtggcccgagacctggCaggccacaacgacacggcca	10	4	12	15	3	0	1	0	0	0	1	0	3	0	1	4	4	1	1	4	4	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:73569667C>A	ENST00000224721.6	+	60	8833	c.8828C>A	c.(8827-8829)gCa>gAa	p.A2943E	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A698E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2938	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGAGACCTGGCAGGCCACAAC	0.612													26	139					2.12542e-12	2.3648e-12	1	0	A	73569667	C	A	73569667	3	1	497	1	0	0	0	0	1	0	0	0	3137	710	25	4	9396	4	CDH23	10	73569667	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	30251101	73569667	61965080	147	96613											
CYP2C18	1562	broad.mit.edu	37	chr10	96484146	96484146	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgtagttggcagaaaccgGagcccctgtatgcaggacag	10	8	14	9	1	0	1	0	0	0	1	0	3	0	3	3	3	3	5	3	3	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:96484146G>C	ENST00000285979.6	+	7	1204	c.1005G>C	c.(1003-1005)cgG>cgC	p.R335R	CYP2C18_ENST00000339022.5_Silent_p.R276R|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GCAGAAACCGGAGCCCCTGTA	0.483													5	150					0	0	0	0	C	96484146	G	C	96484146	2	2	497	1	0	0	0	0	0	0	0	1	4197	1161	41	2		2	CYP2C18	10	96484146	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	22914479	96484146	39050601	148	96614											
KCNIP2	30819	broad.mit.edu	37	chr10	103587992	103587992	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacagttccccgaagaatCacggacaaaccagccacaaa	16	5	6	14	2	2	1	1	0	1	1	3	3	3	2	4	1	3	1	4	1	5	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:103587992C>G	ENST00000358038.3	-	6	810	c.459G>C	c.(457-459)gtG>gtC	p.V153V	KCNIP2_ENST00000461105.1_Silent_p.V186V|KCNIP2_ENST00000343195.4_Silent_p.V121V|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000348850.5_Silent_p.V126V|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000356640.2_Silent_p.V171V|KCNIP2_ENST00000353068.3_Silent_p.V128V	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	171	EF-hand 2.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CCCGAAGAATCACGGACAAAC	0.542													13	88					0	0	0	0	G	103587992	C	G	103587992	2	3	497	1	0	0	0	0	0	0	0	1	8093	813	29	2		2	KCNIP2	10	103587992	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	7103846	103587992	31946755	149	96615											
TAF5	6877	broad.mit.edu	37	chr10	105143116	105143116	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacggagccagcttcagTccggataggtaaaatacaaa	14	8	10	9	2	2	0	1	0	1	0	3	2	3	2	2	3	4	2	2	3	6	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:105143116T>A	ENST00000369839.3	+	7	1679	c.1656T>A	c.(1654-1656)agT>agA	p.S552R	TAF5_ENST00000351396.4_Missense_Mutation_p.S552R	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	552					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAGCTTCAGTCCGGATAGGT	0.343													11	90					0	0	0	0	A	105143116	T	A	105143116	3	1	497	1	0	0	0	0	1	0	0	0	15619	1664	58	5	1682	5	TAF5	10	105143116	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	1555124	105143116	30391631	150	96616											
SORCS3	22986	broad.mit.edu	37	chr10	106976771	106976771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacgcaaacttcagccccatCgaggacggcatcaagcacgt	12	6	9	14	4	2	0	2	0	0	0	3	2	2	1	2	2	4	3	2	2	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:106976771C>G	ENST00000369701.3	+	19	2852	c.2625C>G	c.(2623-2625)atC>atG	p.I875M	SORCS3_ENST00000369699.4_Missense_Mutation_p.I161M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD.					integral to membrane	neuropeptide receptor activity	p.I875I(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)		TCAGCCCCATCGAGGACGGCA	0.532													9	91					0	0	0	0	G	106976771	C	G	106976771	3	3	497	1	0	0	0	0	1	0	0	0	15020	874	31	3	2699	3	SORCS3	10	106976771	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1833655	106976771	28557976	151	96617											
DHX32	55760	broad.mit.edu	37	chr10	127569194	127569194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccataaaggagtattttTctttccatataggaagatct	12	16	6	7	0	3	1	0	0	3	1	5	3	4	3	2	2	0	1	2	2	6	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:127569194T>C	ENST00000284690.3	-	1	690	c.200A>G	c.(199-201)gAa>gGa	p.E67G	DHX32_ENST00000284688.6_Missense_Mutation_p.E67G	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	67						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAGTATTTTTCTTTCCATAT	0.378													9	85					0	0	0	0	C	127569194	T	C	127569194	3	2	497	1	0	0	0	0	1	0	0	0	4542	1783	62	5	2075	5	DHX32	10	127569194	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	20592423	127569194	7965553	152	96618											
FAM196A	642938	broad.mit.edu	37	chr10	128973746	128973746	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgggggtgagcaggccAgggcagtttccgagggcgcc	6	5	19	11	3	0	1	0	1	0	0	2	2	1	1	3	5	1	4	3	5	0	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:128973746A>T	ENST00000522781.1	-	4	1469	c.914T>A	c.(913-915)cTg>cAg	p.L305Q	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L305Q	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	305										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGAGCAGGCCAGGGCAGTTTC	0.672													6	70					0	0	0	0	T	128973746	A	T	128973746	3	4	497	1	0	0	0	0	1	0	0	0	5571	188	7	5	537	5	FAM196A	10	128973746	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	1404552	128973746	6561001	153	96619											
KNDC1	85442	broad.mit.edu	37	chr10	135020263	135020263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaccagaaactcttacaGaaggaaaagaggaacaaagg	19	6	9	7	0	2	3	0	0	2	3	2	5	2	5	1	3	4	0	1	3	8	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:135020263G>T	ENST00000304613.3	+	18	3483	c.3462G>T	c.(3460-3462)caG>caT	p.Q1154H	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1156H|KNDC1_ENST00000368571.2_Missense_Mutation_p.Q1089H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1154					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTCTTACAGAAGGAAAAGA	0.572													13	130					3.27435e-08	3.57003e-08	1	0	T	135020263	G	T	135020263	3	4	497	1	0	0	0	0	1	0	0	0	8478	933	33	2	3532	2	KNDC1	10	135020263	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	6046517	135020263	514484	154	96620											
OR51F2	119694	broad.mit.edu	37	chr11	4843569	4843569	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagattcaaaaggccattatCaaggtcttaattcagaagca	16	10	7	8	0	4	2	3	0	1	2	4	2	4	2	1	2	1	1	1	2	6	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:4843569C>G	ENST00000322110.5	+	1	1019	c.954C>G	c.(952-954)atC>atG	p.I318M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I318I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCATTATCAAGGTCTTAA	0.363													20	148					0	0	0	0	G	4843569	C	G	4843569	3	3	497	1	0	0	0	0	1	0	0	0	11168	816	29	2	956	2	OR51F2	11	4843569	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08		4843569	130162947	155	96621											
NLRP14	338323	broad.mit.edu	37	chr11	7064653	7064653	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttatggacagcaatattAttcagaaggacgcagagtat	14	12	10	5	1	1	2	1	0	0	2	1	4	1	4	0	2	1	4	0	2	6	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:7064653A>T	ENST00000299481.4	+	4	1742	c.1396A>T	c.(1396-1398)Att>Ttt	p.I466F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	466	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGCAATATTATTCAGAAGGA	0.388													22	118					0	0	0	0	T	7064653	A	T	7064653	3	4	497	1	0	0	0	0	1	0	0	0	10546	449	16	5	1406	5	NLRP14	11	7064653	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	2221084	7064653	127941863	156	96622											
TRIM48	79097	broad.mit.edu	37	chr11	55032682	55032682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacagggagacaaagaaGatgttctgtgaagtggacag	15	8	13	5	0	2	4	1	1	1	3	2	6	2	5	0	2	0	1	0	2	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55032682G>T	ENST00000417545.2	+	2	437	c.351G>T	c.(349-351)aaG>aaT	p.K117N		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	101						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACAAAGAAGATGTTCTGTG	0.532													9	92					0.00621372	0.00629091	1	0	T	55032682	G	T	55032682	3	4	497	1	0	0	0	0	1	0	0	0	16618	933	33	2	357	2	TRIM48	11	55032682	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	47968029	55032682	79973834	157	96623											
OR4C15	81309	broad.mit.edu	37	chr11	55322163	55322163	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggatgcgtgcttctcAtctgtcatcaccccaaagat	8	13	7	13	1	4	1	3	0	2	1	6	2	5	2	3	1	2	1	3	1	1	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55322163A>T	ENST00000314644.2	+	1	381	c.381A>T	c.(379-381)tcA>tcT	p.S127S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CGTGCTTCTCATCTGTCATCA	0.458										HNSCC(20;0.049)			45	199					0	0	0	0	T	55322163	A	T	55322163	2	4	497	1	0	0	0	0	0	0	0	1	11119	204	8	5		5	OR4C15	11	55322163	Silent	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	289481	55322163	79684353	158	96624											
OR4C11	219429	broad.mit.edu	37	chr11	55371596	55371596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttataattttcttttcaGagagagcatccacaattaat	14	15	6	6	0	2	2	1	0	1	2	3	3	3	2	1	1	1	2	1	1	4	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55371596G>C	ENST00000302231.4	-	1	278	c.254C>G	c.(253-255)tCt>tGt	p.S85C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTCTTTTCAGAGAGAGCATC	0.388													5	157					0	0	0	0	C	55371596	G	C	55371596	3	2	497	1	0	0	0	0	1	0	0	0	11116	942	33	2	680	2	OR4C11	11	55371596	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	49433	55371596	79634920	159	96625											
OR8H2	390151	broad.mit.edu	37	chr11	55873274	55873274	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgggagtcaccatcttttaTagcactctgatttttactta	9	18	6	8	0	3	1	1	1	2	0	3	2	3	2	1	1	2	1	1	1	4	8			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55873274T>C	ENST00000313503.1	+	1	756	c.756T>C	c.(754-756)taT>taC	p.Y252Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCATCTTTTATAGCACTCTGA	0.368										HNSCC(53;0.14)			10	132					0	0	0	0	C	55873274	T	C	55873274	2	2	497	1	0	0	0	0	0	0	0	1	11309	1413	49	5		5	OR8H2	11	55873274	Silent	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	501678	55873274	79133242	160	96626											
OR5M11	219487	broad.mit.edu	37	chr11	56309881	56309881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagactgtagatcaatggatTaagtaccggactcacaaagg	15	8	10	8	1	2	2	2	0	0	2	2	4	2	4	1	3	1	2	1	3	5	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:56309881T>C	ENST00000528616.2	-	1	876	c.853A>G	c.(853-855)Aat>Gat	p.N285D		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ATCAATGGATTAAGTACCGGA	0.393													10	53					0	0	0	0	C	56309881	T	C	56309881	3	2	497	1	0	0	0	0	1	0	0	0	11245	1754	61	5	67	5	OR5M11	11	56309881	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	436607	56309881	78696635	161	96627											
MPEG1	219972	broad.mit.edu	37	chr11	58978300	58978300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctttcttcttgaacttcCgggtgccgtagatggccaag	7	13	11	10	2	2	2	0	1	2	1	3	2	3	2	3	2	3	2	3	2	3	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:58978300C>T	ENST00000361050.3	-	1	2124	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	680						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTTGAACTTCCGGGTGCCGTA	0.562													7	121					0	0	0	0	T	58978300	C	T	58978300	3	4	497	1	0	0	0	0	1	0	0	0	9793	652	23	1	115	1	MPEG1	11	58978300	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	2668419	58978300	76028216	162	96628											
CAPN1	823	broad.mit.edu	37	chr11	64973960	64973960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagccggccgtacacttGaagcgtgacttcttcctggc	6	9	12	14	3	1	2	0	2	1	0	2	2	2	2	4	3	3	1	4	3	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:64973960G>C	ENST00000527323.1	+	12	1620	c.1380G>C	c.(1378-1380)ttG>ttC	p.L460F	CAPN1_ENST00000524773.1_Missense_Mutation_p.L460F|CAPN1_ENST00000279247.6_Missense_Mutation_p.L460F|CAPN1_ENST00000533820.1_Missense_Mutation_p.L460F|CAPN1_ENST00000533129.1_Missense_Mutation_p.L460F			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	460	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGTACACTTGAAGCGTGACT	0.682													8	106					0	0	0	0	C	64973960	G	C	64973960	3	2	497	1	0	0	0	0	1	0	0	0	2647	1281	45	2	1426	2	CAPN1	11	64973960	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	5995660	64973960	70032556	163	96629											
TIGD3	220359	broad.mit.edu	37	chr11	65123763	65123763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcccaggctcagctgcctCtttccctaaaagacttctct	8	12	5	16	0	3	1	1	0	2	1	6	1	5	1	3	1	2	2	3	1	2	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:65123763C>G	ENST00000309880.5	+	2	691	c.484C>G	c.(484-486)Ctt>Gtt	p.L162V		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	162					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCAGCTGCCTCTTTCCCTAAA	0.592													6	261					0	0	0	0	G	65123763	C	G	65123763	3	3	497	1	0	0	0	0	1	0	0	0	15991	913	32	2	486	2	TIGD3	11	65123763	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	149803	65123763	69882753	164	96630											
CCS	9973	broad.mit.edu	37	chr11	66366595	66366595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctttcttgccaggtgtccagGatgtggaggtgcacttggag	6	12	15	8	0	1	0	0	0	1	0	2	3	2	3	2	5	2	1	2	5	0	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:66366595G>C	ENST00000533244.1	+	3	562	c.121G>C	c.(121-123)Gat>Cat	p.D41H	CCS_ENST00000310190.4_Missense_Mutation_p.D22H	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	41	HMA.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGGTGTCCAGGATGTGGAGGT	0.597													6	74					0	0	0	0	C	66366595	G	C	66366595	3	2	497	1	0	0	0	0	1	0	0	0	2981	1174	41	2	131	2	CCS	11	66366595	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1242832	66366595	68639921	165	96631											
TCIRG1	10312	broad.mit.edu	37	chr11	67811329	67811329	+	Frame_Shift_Del	DEL	C	C	-																															cagcaggaggaggcccgcctCggggccctgcagcagctgca																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:67811329delC	ENST00000265686.3	+	8	870	c.762delC	c.(760-762)ctfs	p.L254fs	TCIRG1_ENST00000532635.1_Frame_Shift_Del_p.L38fs	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	254					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGGCCCGCCTCGGGGCCCTGC	0.692													2	4	---	---	---	---					-	67811329	C	-	67811329	7	5	497	1	0	1	0	1	0	0	0	0	15797	871	31	0	788	0	TCIRG1	11	67811329	Frame_Shift_Del	DEL	C	TCGA-UF-A7JA-01A-12D-A34J-08	1444734	67811329	67195187	166	96632											
CLPB	81570	broad.mit.edu	37	chr11	72012910	72012910	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttgtctacttcatcaaaGagcaccacagcattggggca	11	9	9	12	0	3	1	2	0	1	1	3	1	3	1	2	2	3	3	2	2	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:72012910G>C	ENST00000294053.3	-	12	1529	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L	CLPB_ENST00000543042.1_Silent_p.L251L|CLPB_ENST00000340729.5_Silent_p.L393L|CLPB_ENST00000538021.1_Silent_p.L60L|CLPB_ENST00000538039.1_Silent_p.L422L|CLPB_ENST00000437826.2_Silent_p.L407L	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	452					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTTCATCAAAGAGCACCACAG	0.562													5	143					0	0	0	0	C	72012910	G	C	72012910	2	2	497	1	0	0	0	0	0	0	0	1	3581	929	33	2		2	CLPB	11	72012910	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	4201581	72012910	62993606	167	96633											
CEP57	9702	broad.mit.edu	37	chr11	95546634	95546634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttatgtattctttttagaaCtgacatctcagttgttagct	9	19	6	7	0	2	2	1	1	2	1	3	2	2	2	0	0	2	4	0	0	5	8			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:95546634C>A	ENST00000325542.5	+	4	623	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	CEP57_ENST00000541150.1_Missense_Mutation_p.L120M|CEP57_ENST00000538658.1_Missense_Mutation_p.L129M|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000537677.1_Missense_Mutation_p.L102M|CEP57_ENST00000325486.5_Missense_Mutation_p.L129M	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	129	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTTTTAGAACTGACATCTCA	0.313									Mosaic Variegated Aneuploidy Syndrome				11	29					2.27111e-07	2.45974e-07	1	0	A	95546634	C	A	95546634	3	1	497	1	0	0	0	0	1	0	0	0	3285	564	20	4	399	4	CEP57	11	95546634	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	23533724	95546634	39459882	168	96634											
OR6M1	390261	broad.mit.edu	37	chr11	123676741	123676741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggataaactccaccgtcCccagaaagaagtagaaatat	18	6	8	9	1	0	4	0	0	0	4	2	5	2	5	4	1	1	1	4	1	7	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:123676741C>G	ENST00000309154.2	-	1	354	c.317G>C	c.(316-318)gGg>gCg	p.G106A		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCACCGTCCCCAGAAAGAA	0.493													6	44					0	0	0	0	G	123676741	C	G	123676741	3	3	497	1	0	0	0	0	1	0	0	0	11276	623	22	4	627	4	OR6M1	11	123676741	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	28130107	123676741	11329775	169	96635											
KCNJ5	3762	broad.mit.edu	37	chr11	128781855	128781855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctccgcaactcccacatCgtggaggcctccatccgggc	7	6	10	18	3	0	0	0	0	0	0	5	2	4	1	6	3	1	1	6	3	1	0	rs149327599		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:128781855C>T	ENST00000529694.1	+	2	1063	c.687C>T	c.(685-687)atC>atT	p.I229I	KCNJ5_ENST00000338350.4_Silent_p.I229I|KCNJ5_ENST00000533599.1_Silent_p.I229I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	229					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.I229I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACTCCCACATCGTGGAGGCCT	0.592													9	68					0	0	0	0	T	128781855	C	T	128781855	2	4	497	1	0	0	0	0	0	0	0	1	8107	874	31	1		1	KCNJ5	11	128781855	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	5105114	128781855	6224661	170	96636											
PZP	5858	broad.mit.edu	37	chr12	9309893	9309893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctcccatgggtccccTcctttgctacattccaggct	5	12	8	16	0	0	0	0	0	0	0	4	0	4	0	5	3	2	3	5	3	1	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:9309893T>C	ENST00000261336.2	-	28	3456	c.3428A>G	c.(3427-3429)gAg>gGg	p.E1143G	PZP_ENST00000381997.2_Missense_Mutation_p.E929G	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGGGTCCCCTCCTTTGCTAC	0.468													30	102					0	0	0	0	C	9309893	T	C	9309893	3	2	497	1	0	0	0	0	1	0	0	0	12951	1551	54	5	1056	5	PZP	12	9309893	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08		9309893	124542002	171	96637											
LRRK2	120892	broad.mit.edu	37	chr12	40745477	40745477	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggctgggctgtgggcAcaccgacagaggacagctct	8	8	14	11	1	1	1	0	0	1	1	1	3	1	2	1	4	1	4	1	4	0	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:40745477A>C	ENST00000298910.7	+	44	6576	c.6518A>C	c.(6517-6519)cAc>cCc	p.H2173P		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2173					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCTGTGGGCACACCGACAGA	0.398													4	50					0	0	0	0	C	40745477	A	C	40745477	3	2	497	1	0	0	0	0	1	0	0	0	9097	159	6	5	6692	5	LRRK2	12	40745477	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	31435584	40745477	93106418	172	96638											
PDZRN4	29951	broad.mit.edu	37	chr12	41966190	41966190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcaagaagaagaagaaGgcacaacagacactgcaaca	23	1	9	8	0	0	5	0	0	0	5	0	5	0	5	0	1	4	3	0	1	9	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:41966190G>T	ENST00000298919.7	+	10	1217	c.829G>T	c.(829-831)Ggc>Tgc	p.G277C	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G279C|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G537C			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	537	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAAGAAGAAGGCACAACAGA	0.368													10	51					3.07112e-06	3.28257e-06	1	0	T	41966190	G	T	41966190	3	4	497	1	0	0	0	0	1	0	0	0	11781	1000	35	4	1720	4	PDZRN4	12	41966190	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1220713	41966190	91885705	173	96639											
PRKAG1	5571	broad.mit.edu	37	chr12	49399267	49399267	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaactttgcttcttactAtcccataaaggggcagctcg	12	11	7	11	1	1	0	0	0	1	0	3	0	2	0	1	2	4	3	1	2	6	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:49399267A>G	ENST00000548065.1	-	4	684	c.228T>C	c.(226-228)gaT>gaC	p.D76D	PRKAG1_ENST00000316299.5_Silent_p.D76D|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000552212.1_Silent_p.D44D|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Silent_p.D25D|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	76	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GCTTCTTACTATCCCATAAAG	0.438													11	82					0	0	0	0	G	49399267	A	G	49399267	2	3	497	1	0	0	0	0	0	0	0	1	12580	446	16	5		5	PRKAG1	12	49399267	Silent	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	7433077	49399267	84452628	174	96640											
OR6C1	390321	broad.mit.edu	37	chr12	55714857	55714857	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaatcatattcccagcactCatgttgcttttaaagcttca	11	16	4	10	0	3	0	3	0	0	0	4	0	4	0	1	0	3	4	1	0	4	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:55714857C>G	ENST00000379668.2	+	1	512	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCCCAGCACTCATGTTGCTTT	0.378													8	50					0	0	0	0	G	55714857	C	G	55714857	2	3	497	1	0	0	0	0	0	0	0	1	11261	813	29	2		2	OR6C1	12	55714857	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	6315590	55714857	78137038	175	96641											
SMARCC2	6601	broad.mit.edu	37	chr12	56571873	56571873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccctccgctcaatggcatGaacactgcaagaaaagccag	14	5	9	13	1	1	2	1	1	0	1	2	2	2	2	3	1	4	3	3	1	5	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:56571873G>C	ENST00000394023.3	-	15	1420	c.1315C>G	c.(1315-1317)Cat>Gat	p.H439D	SMARCC2_ENST00000347471.4_Missense_Mutation_p.H439D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.H439D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.H439D|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	439	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCAATGGCATGAACACTGCAA	0.488													6	48					0	0	0	0	C	56571873	G	C	56571873	3	2	497	1	0	0	0	0	1	0	0	0	14864	1290	45	2	2482	2	SMARCC2	12	56571873	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	857016	56571873	77280022	176	96642											
DPY19L2	283417	broad.mit.edu	37	chr12	63991675	63991675	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagattctggctgctataaGatcactcaggcgaatctggg	11	11	11	8	1	4	2	2	0	2	2	4	3	4	2	0	3	1	2	0	3	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:63991675G>C	ENST00000324472.4	-	14	1558	c.1375C>G	c.(1375-1377)Ctt>Gtt	p.L459V		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	459					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCTGCTATAAGATCACTCAGG	0.313													11	101					0	0	0	0	C	63991675	G	C	63991675	3	2	497	1	0	0	0	0	1	0	0	0	4777	942	33	2	937	2	DPY19L2	12	63991675	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	7419802	63991675	69860220	177	96643											
KSR2	283455	broad.mit.edu	37	chr12	117962953	117962953	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgtgggaagctccgggcCgagaggagggacaggttcat	8	7	18	8	3	1	1	1	0	0	1	2	5	2	4	2	5	2	2	2	5	1	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:117962953C>T	ENST00000425217.1	-	14	1890	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.S641S|KSR2_ENST00000302438.5_Silent_p.S338S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	641					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTCCGGGCCGAGAGGAGGG	0.582													10	49					0	0	0	0	T	117962953	C	T	117962953	2	4	497	1	0	0	0	0	0	0	0	1	8635	639	23	1		1	KSR2	12	117962953	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	53971278	117962953	15888942	178	96644											
GCN1L1	10985	broad.mit.edu	37	chr12	120599312	120599312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctccttcagctccagctcGatgatctgctctttgaagga	8	12	8	13	1	3	2	1	2	2	0	6	4	5	3	3	1	3	3	3	1	1	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:120599312G>A	ENST00000300648.6	-	22	2430	c.2418C>T	c.(2416-2418)atC>atT	p.I806I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	806					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCCAGCTCGATGATCTGCT	0.522													24	148					0	0	0	0	A	120599312	G	A	120599312	2	1	497	1	0	0	0	0	0	0	0	1	6348	1048	37	1		1	GCN1L1	12	120599312	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	2636359	120599312	13252583	179	96645											
WDR66	144406	broad.mit.edu	37	chr12	122396334	122396334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgggagcatctgtgggatGatcaaagtgtggaattatga	12	11	14	4	1	2	2	1	2	1	0	3	5	2	5	0	3	1	1	0	3	3	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:122396334G>T	ENST00000288912.4	+	12	2741	c.1887G>T	c.(1885-1887)atG>atT	p.M629I	WDR66_ENST00000397454.2_Missense_Mutation_p.M629I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	629							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTGTGGGATGATCAAAGTGT	0.458													6	246					0.0215528	0.0216858	1	0	T	122396334	G	T	122396334	3	4	497	1	0	0	0	0	1	0	0	0	17413	1290	45	2	1929	2	WDR66	12	122396334	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1797022	122396334	11455561	180	96646											
RNF6	6049	broad.mit.edu	37	chr13	26788500	26788500	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatgctggccatttctttGaagttctgactcagaatcgg	10	14	9	8	1	3	3	1	2	2	1	4	3	3	3	1	2	1	2	1	2	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:26788500G>A	ENST00000381588.4	-	5	2271	c.1519C>T	c.(1519-1521)Caa>Taa	p.Q507*	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q151*|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q507*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q507*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	507					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCATTTCTTTGAAGTTCTGAC	0.463													5	92					0	0	0	0	A	26788500	G	A	26788500	4	1	497	1	0	0	0	0	0	1	0	0	13583	1299	45	2	542	2	RNF6	13	26788500	Nonsense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		26788500	88381378	181	96647											
RNF6	6049	broad.mit.edu	37	chr13	26793680	26793680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgataataggcctcttctCtgtggagacgctcttgctgc	7	13	10	11	1	3	2	0	1	3	1	4	3	3	2	1	2	2	2	1	2	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:26793680C>G	ENST00000381588.4	-	3	859	c.107G>C	c.(106-108)aGa>aCa	p.R36T	RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.R36T|RNF6_ENST00000381570.3_Missense_Mutation_p.R36T	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	36					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GGCCTCTTCTCTGTGGAGACG	0.418													21	132					0	0	0	0	G	26793680	C	G	26793680	3	3	497	1	0	0	0	0	1	0	0	0	13583	913	32	2	1962	2	RNF6	13	26793680	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	5180	26793680	88376198	182	96648											
BRCA2	675	broad.mit.edu	37	chr13	32906550	32906550	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatagtttttcattatgttTttctaaatgtagaacaaaaa	16	17	5	3	0	2	2	1	0	1	2	2	2	2	2	0	0	1	3	0	0	8	8			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:32906550T>G	ENST00000544455.1	+	10	1162	c.935T>G	c.(934-936)tTt>tGt	p.F312C	BRCA2_ENST00000380152.3_Missense_Mutation_p.F312C	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	312					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCATTATGTTTTTCTAAATGT	0.308			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			53	103					0	0	0	0	G	32906550	T	G	32906550	3	3	497	1	0	0	0	0	1	0	0	0	1507	1841	64	5	969	5	BRCA2	13	32906550	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	6112870	32906550	82263328	183	96649											
STARD13	90627	broad.mit.edu	37	chr13	33859650	33859650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatggcgtgctagaatccgGctcatcctgtaaggagagcg	9	9	14	9	3	1	3	1	1	0	2	3	4	3	3	2	3	2	3	2	3	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:33859650G>A	ENST00000336934.5	-	1	242	c.126C>T	c.(124-126)agC>agT	p.S42S	STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	42					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTAGAATCCGGCTCATCCTGT	0.493													5	238					0	0	0	0	A	33859650	G	A	33859650	2	1	497	1	0	0	0	0	0	0	0	1	15346	1194	42	4		4	STARD13	13	33859650	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	953100	33859650	81310228	184	96650											
FREM2	341640	broad.mit.edu	37	chr13	39425231	39425231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaaactctcataaggatccGagatgatgctgatagtaaga	15	10	10	6	1	1	5	1	3	1	2	3	7	2	6	1	1	2	2	1	1	4	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:39425231G>C	ENST00000280481.7	+	10	6944	c.6728G>C	c.(6727-6729)cGa>cCa	p.R2243P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2243	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATAAGGATCCGAGATGATGCT	0.423													11	89					0	0	0	0	C	39425231	G	C	39425231	3	2	497	1	0	0	0	0	1	0	0	0	6093	1058	37	3	6766	3	FREM2	13	39425231	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	5565581	39425231	75744647	185	96651											
DDHD1	80821	broad.mit.edu	37	chr14	53525264	53525264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggcaaaatatggtcttgActtccagtatttcctgggcg	9	13	10	9	1	1	1	0	1	1	0	3	1	3	1	2	3	0	2	2	3	5	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:53525264A>T	ENST00000357758.3	-	9	2106	c.1923T>A	c.(1921-1923)agT>agA	p.S641R	DDHD1_ENST00000395606.1_Missense_Mutation_p.S648R|DDHD1_ENST00000323669.5_Missense_Mutation_p.S641R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	641	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TATGGTCTTGACTTCCAGTAT	0.393													29	133					0	0	0	0	T	53525264	A	T	53525264	3	4	497	1	0	0	0	0	1	0	0	0	4358	272	10	5	799	5	DDHD1	14	53525264	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08		53525264	53824276	186	96652											
C14orf105	55195	broad.mit.edu	37	chr14	57960409	57960409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttgatcaccctaaggtGagtcttagagtgactcaggc	10	12	10	9	0	3	4	2	3	1	1	3	4	3	4	1	2	1	0	1	2	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:57960409G>A	ENST00000216445.3	-	1	161	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	C14orf105_ENST00000526336.1_Missense_Mutation_p.H9Y|C14orf105_ENST00000422976.2_Missense_Mutation_p.H9Y|C14orf105_ENST00000534126.1_Missense_Mutation_p.H9Y	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	9										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						ACCCTAAGGTGAGTCTTAGAG	0.428													7	55					0	0	0	0	A	57960409	G	A	57960409	3	1	497	1	0	0	0	0	1	0	0	0	1749	1290	45	2	889	2	C14orf105	14	57960409	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	4435145	57960409	49389131	187	96653											
SYNE2	23224	broad.mit.edu	37	chr14	64682003	64682003	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgacattgttctttttcaGatgtagaaatccctgaaaat	14	15	6	6	0	2	4	1	2	1	2	3	4	3	4	1	0	0	2	1	0	5	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:64682003G>A	ENST00000358025.3	+	107	19563		c.e107-1		SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Intron|SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000458046.2_Splice_Site|SYNE2_ENST00000555022.1_Intron|SYNE2_ENST00000554805.1_Intron	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCTTTTTCAGATGTAGAAAT	0.423													36	188					0	0	0	0	A	64682003	G	A	64682003	5	1	497	1	0	0	0	0	0	0	1	0	15537	956	33	2	19755	2	SYNE2	14	64682003	Splice_Site	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	6721594	64682003	42667537	188	96654											
ABCD4	5826	broad.mit.edu	37	chr14	74762564	74762564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggagacacacctaaaatCtccctccagcttctcctgat	11	9	7	14	0	2	2	0	1	2	1	5	4	3	2	4	1	1	1	4	1	2	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:74762564C>T	ENST00000356924.4	-	6	804	c.661G>A	c.(661-663)Gat>Aat	p.D221N	ABCD4_ENST00000298816.7_Missense_Mutation_p.D134N|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	221	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CACCTAAAATCTCCCTCCAGC	0.488													9	90					0	0	0	0	T	74762564	C	T	74762564	3	4	497	1	0	0	0	0	1	0	0	0	63	913	32	2	1215	2	ABCD4	14	74762564	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	10080561	74762564	32586976	189	96655											
ABCD4	5826	broad.mit.edu	37	chr14	74766887	74766887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaaaagggtcaggaacatCaaggcattttgtgatgacca	15	8	10	8	0	2	2	2	2	0	0	2	3	2	3	1	3	1	1	1	3	4	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:74766887C>G	ENST00000356924.4	-	2	266	c.123G>C	c.(121-123)ttG>ttC	p.L41F	ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000557588.1_Missense_Mutation_p.L41F	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	41	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCAGGAACATCAAGGCATTTT	0.512													5	79					0	0	0	0	G	74766887	C	G	74766887	3	3	497	1	0	0	0	0	1	0	0	0	63	825	29	2	1769	2	ABCD4	14	74766887	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	4323	74766887	32582653	190	96656											
GPR65	8477	broad.mit.edu	37	chr14	88478152	88478152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcacaaagacaaagaaaaCgcatactttctgtgtctaca	17	9	5	10	1	3	2	1	0	2	2	3	2	3	2	0	0	3	1	0	0	6	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:88478152C>T	ENST00000267549.3	+	2	1519	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	321					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACAAAGAAAACGCATACTTTC	0.343													12	65					0	0	0	0	T	88478152	C	T	88478152	3	4	497	1	0	0	0	0	1	0	0	0	6755	536	19	1	963	1	GPR65	14	88478152	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	13711265	88478152	18871388	191	96657											
HSP90AA1	3320	broad.mit.edu	37	chr14	102552130	102552130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgaatgatccccctgctGaggactcccaagcgtactgc	8	9	10	14	1	0	3	0	3	0	0	2	4	2	4	3	1	4	2	3	1	3	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:102552130G>A	ENST00000334701.7	-	4	1141	c.860C>T	c.(859-861)tCa>tTa	p.S287L	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S165L|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	165					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCCCCCTGCTGAGGACTCCCA	0.502													14	92					0	0	0	0	A	102552130	G	A	102552130	3	1	497	1	0	0	0	0	1	0	0	0	7453	1294	45	2	1740	2	HSP90AA1	14	102552130	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	14073978	102552130	4797410	192	96658											
GABRA5	2558	broad.mit.edu	37	chr15	27193200	27193200	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtcgaatacaacctcagtCtcagtaaaaccctctgaaga	15	8	6	12	2	3	2	2	1	2	1	5	3	3	2	2	0	3	1	2	0	6	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:27193200C>G	ENST00000335625.5	+	11	2097	c.1209C>G	c.(1207-1209)gtC>gtG	p.V403V	GABRA5_ENST00000355395.5_Silent_p.V403V|GABRA5_ENST00000400081.3_Silent_p.V403V	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	403					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAACCTCAGTCTCAGTAAAAC	0.428													3	18					0	0	0	0	G	27193200	C	G	27193200	2	3	497	1	0	0	0	0	0	0	0	1	6212	900	32	2		2	GABRA5	15	27193200	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08		27193200	75338192	193	96659											
NUSAP1	51203	broad.mit.edu	37	chr15	41641367	41641367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaccaggaagaagctgaGagacagccacttggccatgt	14	5	12	10	0	0	3	0	1	0	2	0	5	0	4	3	2	4	2	3	2	3	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:41641367G>A	ENST00000260359.6	+	3	498	c.234G>A	c.(232-234)gaG>gaA	p.E78E	NUSAP1_ENST00000450318.1_Silent_p.E78E|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450592.2_Silent_p.E55E|NUSAP1_ENST00000560177.1_Silent_p.E78E|NUSAP1_ENST00000560747.1_Silent_p.E78E|NUSAP1_ENST00000559596.1_Silent_p.E78E|NUSAP1_ENST00000414849.2_Silent_p.E78E	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	78					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AAGAAGCTGAGAGACAGCCAC	0.438													6	34					0	0	0	0	A	41641367	G	A	41641367	2	1	497	1	0	0	0	0	0	0	0	1	10849	933	33	2		2	NUSAP1	15	41641367	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	14448167	41641367	60890025	194	96660											
MGA	23269	broad.mit.edu	37	chr15	42005443	42005443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggttgtgtatgttccaGtctagctttggagaagcgcc	7	13	13	8	1	1	1	0	0	1	1	2	2	2	1	2	2	2	4	2	2	3	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:42005443G>A	ENST00000219905.7	+	9	3360	c.3179G>A	c.(3178-3180)aGt>aAt	p.S1060N	MGA_ENST00000566586.1_Missense_Mutation_p.S1060N|MGA_ENST00000545763.1_Missense_Mutation_p.S1060N|MGA_ENST00000570161.1_Missense_Mutation_p.S1060N|MGA_ENST00000389936.4_Missense_Mutation_p.S1060N	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1060						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			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)		GTATGTTCCAGTCTAGCTTTG	0.463													16	136					0	0	0	0	A	42005443	G	A	42005443	3	1	497	1	0	0	0	0	1	0	0	0	9609	1029	36	4	3209	4	MGA	15	42005443	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	364076	42005443	60525949	195	96661											
HAUS2	55142	broad.mit.edu	37	chr15	42851582	42851582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactagaaaaagatacagcaGatgttgttcatcctttcttt	14	14	6	7	0	2	3	1	0	1	3	3	3	3	3	1	0	3	3	1	0	5	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:42851582G>A	ENST00000260372.3	+	3	295	c.232G>A	c.(232-234)Gat>Aat	p.D78N	HAUS2_ENST00000568846.2_Missense_Mutation_p.D47N|HAUS2_ENST00000568876.1_Missense_Mutation_p.D47N	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	78					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						AGATACAGCAGATGTTGTTCA	0.368													11	64					0	0	0	0	A	42851582	G	A	42851582	3	1	497	1	0	0	0	0	1	0	0	0	7016	942	33	2	242	2	HAUS2	15	42851582	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	846139	42851582	59679810	196	96662											
DMXL2	23312	broad.mit.edu	37	chr15	51806687	51806687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctttttctccatatcttCcttatgtggtttatatccta	6	22	3	10	0	2	0	0	0	2	0	6	0	5	0	4	1	0	1	4	1	5	10			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:51806687C>T	ENST00000251076.5	-	15	2883	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	DMXL2_ENST00000449909.3_Missense_Mutation_p.E866K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E866K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	866						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCATATCTTCCTTATGTGGT	0.303													12	79					0	0	0	0	T	51806687	C	T	51806687	3	4	497	1	0	0	0	0	1	0	0	0	4632	864	30	2	6633	2	DMXL2	15	51806687	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	8955105	51806687	50724705	197	96663											
DMXL2	23312	broad.mit.edu	37	chr15	51828991	51828991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatacaggcatacatcatGatatttttactaagagagct	14	15	6	6	0	1	2	1	1	0	1	1	3	1	2	0	1	4	2	0	1	6	9			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:51828991G>A	ENST00000251076.5	-	12	1973	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	DMXL2_ENST00000449909.3_Silent_p.I562I|DMXL2_ENST00000543779.2_Silent_p.I562I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	562						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATACATCATGATATTTTTAC	0.418													14	71					0	0	0	0	A	51828991	G	A	51828991	2	1	497	1	0	0	0	0	0	0	0	1	4632	1280	45	2		2	DMXL2	15	51828991	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	22304	51828991	50702401	198	96664											
CLPX	10845	broad.mit.edu	37	chr15	65456381	65456381	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctacctcttggtgttaatGatgtctgcttctcaacctct	6	16	7	12	1	4	1	1	1	4	0	5	1	4	1	2	1	3	3	2	1	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:65456381G>C	ENST00000300107.3	-	5	847	c.659C>G	c.(658-660)tCa>tGa	p.S220*		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	220					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TGGTGTTAATGATGTCTGCTT	0.333													20	173					0	0	0	0	C	65456381	G	C	65456381	4	2	497	1	0	0	0	0	0	1	0	0	3586	1294	45	2	1282	2	CLPX	15	65456381	Nonsense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	13627390	65456381	37075011	199	96665											
CREBBP	1387	broad.mit.edu	37	chr16	3789616	3789616	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcagagccgtattcttGgacgtgcattccaaaaaagc	13	9	9	10	2	2	1	1	0	1	1	3	2	3	2	2	1	3	3	2	1	5	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:3789616G>A	ENST00000262367.5	-	25	5052	c.4243C>T	c.(4243-4245)Caa>Taa	p.Q1415*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1377*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1415	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCGTATTCTTGGACGTGCATT	0.493			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						6	65					0	0	0	0	A	3789616	G	A	3789616	4	1	497	1	0	0	0	0	0	1	0	0	3891	1357	47	4	3113	4	CREBBP	16	3789616	Nonsense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		3789616	86565137	200	96666											
CLEC16A	23274	broad.mit.edu	37	chr16	11071202	11071202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgctcactgaccacctGctcaacaggctcttcctgcc	7	10	8	16	0	3	1	2	1	1	0	4	2	4	1	4	1	4	3	4	1	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:11071202G>A	ENST00000409790.1	+	8	1079	c.849G>A	c.(847-849)ctG>ctA	p.L283L	CLEC16A_ENST00000409552.3_Silent_p.L281L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	283										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGACCACCTGCTCAACAGGC	0.557													4	57					0	0	0	0	A	11071202	G	A	11071202	2	1	497	1	0	0	0	0	0	0	0	1	3530	1306	46	4		4	CLEC16A	16	11071202	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	7281586	11071202	79283551	201	96667											
USP31	57478	broad.mit.edu	37	chr16	23113727	23113727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggactgtttccaggtCgtctgtatcacaaaaggaac	11	12	9	9	1	3	0	2	0	1	0	5	2	4	2	1	3	1	2	1	3	4	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:23113727C>A	ENST00000219689.7	-	6	1146	c.1147G>T	c.(1147-1149)Gac>Tac	p.D383Y		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	383					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTTTCCAGGTCGTCTGTATCA	0.408													32	122					2.46105e-21	2.8151e-21	1	0	A	23113727	C	A	23113727	3	1	497	1	0	0	0	0	1	0	0	0	17158	884	31	3	2955	3	USP31	16	23113727	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	12042525	23113727	67241026	202	96668											
SEPT1	1731	broad.mit.edu	37	chr16	30389949	30389949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctcttcgtctttctcgcgGatcagcttctcggtgtccgc	3	14	9	15	5	5	0	1	0	4	0	9	1	6	1	2	2	1	1	2	2	0	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:30389949G>A	ENST00000321367.3	-	11	1185	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SEPT1_ENST00000605106.1_Silent_p.I338I|SEPT1_ENST00000571393.1_Silent_p.I333I	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	333					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTTTCTCGCGGATCAGCTTCT	0.657													4	44					0	0	0	0	A	30389949	G	A	30389949	2	1	497	1	0	0	0	0	0	0	0	1	14146	1164	41	2		2	SEPT1	16	30389949	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	7276222	30389949	59964804	203	96669											
C16orf78	123970	broad.mit.edu	37	chr16	49430357	49430357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagacatcaaggatgcagtcGacccagagtccactcagcgg	12	5	11	13	2	2	2	2	0	0	2	4	4	3	3	2	2	2	1	2	2	1	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:49430357G>C	ENST00000299191.3	+	4	535	c.418G>C	c.(418-420)Gac>Cac	p.D140H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	140										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGATGCAGTCGACCCAGAGTC	0.517													5	72					0	0	0	0	C	49430357	G	C	49430357	3	2	497	1	0	0	0	0	1	0	0	0	1848	1058	37	3	432	3	C16orf78	16	49430357	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	19040408	49430357	40924396	204	96670											
SLC7A6	9057	broad.mit.edu	37	chr16	68328673	68328673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccatgatccacattgagcGttttacacctatccctgctt	8	14	6	13	1	0	2	0	2	0	0	3	2	3	2	4	0	3	2	4	0	2	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:68328673G>A	ENST00000566454.1	+	9	1357	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.R363H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	363					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CACATTGAGCGTTTTACACCT	0.507													15	169					0	0	0	0	A	68328673	G	A	68328673	3	1	497	1	0	0	0	0	1	0	0	0	14789	1145	40	1	1110	1	SLC7A6	16	68328673	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	18898316	68328673	22026080	205	96671											
PHLPP2	23035	broad.mit.edu	37	chr16	71710535	71710535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagattttcaataaccatgGttttcaaatggttcatcctt	11	16	5	9	0	3	1	3	0	0	1	4	1	4	1	3	2	1	2	3	2	3	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:71710535G>A	ENST00000393524.2	-	8	2019	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	PHLPP2_ENST00000356272.3_Missense_Mutation_p.T429I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T464I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T429I|PHLPP2_ENST00000568954.1_Missense_Mutation_p.T429I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	429						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATAACCATGGTTTTCAAATG	0.368													17	81					0	0	0	0	A	71710535	G	A	71710535	3	1	497	1	0	0	0	0	1	0	0	0	11927	1261	44	4	2729	4	PHLPP2	16	71710535	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	3381862	71710535	18644218	206	96672											
ZFHX3	463	broad.mit.edu	37	chr16	72993579	72993579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgccactcccacaggCgcccccgccctgggtcagct	5	5	10	21	2	1	0	1	0	0	0	2	0	2	0	6	2	2	1	6	2	0	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:72993579C>T	ENST00000268489.5	-	2	1138	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	156					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCCCACAGGCGCCCCCGCCC	0.677													8	53					0	0	0	0	T	72993579	C	T	72993579	3	4	497	1	0	0	0	0	1	0	0	0	17729	768	27	1	10681	1	ZFHX3	16	72993579	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1283044	72993579	17361174	207	96673											
OR1A1	8383	broad.mit.edu	37	chr17	3119566	3119566	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgcatcattgtctcctatAttcgagtcttctccacagtc	8	16	5	12	1	4	0	1	0	3	0	8	1	4	0	2	0	1	1	2	0	3	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:3119566A>G	ENST00000304094.1	+	1	652	c.652A>G	c.(652-654)Att>Gtt	p.I218V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTCTCCTATATTCGAGTCTT	0.473													35	225					0	0	0	0	G	3119566	A	G	3119566	3	3	497	1	0	0	0	0	1	0	0	0	11020	449	16	5	654	5	OR1A1	17	3119566	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08		3119566	78075644	208	96674											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	87					0	0	0	0	T	7578406	C	T	7578406	3	4	497	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	4458840	7578406	73616804	209	96675											
TP53	7157	broad.mit.edu	37	chr17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacggggggagcagcctCtggcattctgggagcttcat	6	8	16	11	1	3	0	1	0	2	0	3	2	3	2	2	6	3	3	2	6	0	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7579485C>A	ENST00000420246.2	-	4	334	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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)		GGAGCAGCCTCTGGCATTCTG	0.607		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)			33	204					4.4194e-11	4.88382e-11	1	0	A	7579485	C	A	7579485	4	1	497	1	0	0	0	0	0	1	0	0	16476	922	32	2	1100	2	TP53	17	7579485	Nonsense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1079	7579485	73615725	210	96676											
ALOX12B	242	broad.mit.edu	37	chr17	7983602	7983602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attttcctaatgtccttcagCctcttccacgaatgtttgca	8	16	5	12	1	2	0	1	0	1	0	5	1	5	0	4	0	2	2	4	0	2	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7983602C>T	ENST00000399413.3	+	2	523	c.283C>T	c.(283-285)Cct>Tct	p.P95S	ALOX12B_ENST00000319144.4_Silent_p.R235R																endometrium(2)	2						TGTCCTTCAGCCTCTTCCACG	0.577											OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	242					0	0	0	0	T	7983602	C	T	7983602	3	4	497	1	0	0	0	0	1	0	0	0	537	738	26	4	1440	4	ALOX12B	17	7983602	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	404117	7983602	73211608	211	96677											
MYH4	4622	broad.mit.edu	37	chr17	10364348	10364348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccttttcatcagcagtGaaacccaggatgtccacagc	11	8	8	14	0	2	1	2	1	0	0	3	2	3	2	4	1	3	1	4	1	1	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:10364348G>T	ENST00000255381.2	-	12	1142	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	344	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATCAGCAGTGAAACCCAGGA	0.488													13	80					0.00185496	0.00190762	1	0	T	10364348	G	T	10364348	3	4	497	1	0	0	0	0	1	0	0	0	10107	1281	45	2	4903	2	MYH4	17	10364348	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	2380746	10364348	70830862	212	96678											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843026	16843026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgctctcctgcgtgggCgccctgcactcagggaagca	6	7	13	15	3	2	0	1	0	1	0	3	1	2	1	2	2	4	3	2	2	1	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:16843026C>T	ENST00000437538.2	-	4	587	c.579G>A	c.(577-579)gcG>gcA	p.A193A	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Silent_p.A193A|TNFRSF13B_ENST00000261652.2_Silent_p.A239A			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	239					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.A239A(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCTGCGTGGGCGCCCTGCACT	0.672									IgA Deficiency, Selective				6	26					0	0	0	0	T	16843026	C	T	16843026	2	4	497	1	0	0	0	0	0	0	0	1	16381	755	27	1		1	TNFRSF13B	17	16843026	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	6478678	16843026	64352184	213	96679											
SLFN13	146857	broad.mit.edu	37	chr17	33768044	33768044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagatacccatgggggataTtaattggaggattttctata	12	13	10	6	0	1	1	0	0	1	1	1	4	1	4	2	4	1	0	2	4	5	8			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:33768044T>A	ENST00000285013.6	-	6	2539	c.2264A>T	c.(2263-2265)aAt>aTt	p.N755I	SLFN13_ENST00000526861.1_Missense_Mutation_p.N755I|SLFN13_ENST00000360502.2_Missense_Mutation_p.N437I|SLFN13_ENST00000534689.1_Missense_Mutation_p.N437I|SLFN13_ENST00000533791.1_Missense_Mutation_p.N755I|SLFN13_ENST00000542635.1_Missense_Mutation_p.N755I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	755						intracellular	ATP binding			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)		ATGGGGGATATTAATTGGAGG	0.383													25	180					0	0	0	0	A	33768044	T	A	33768044	3	1	497	1	0	0	0	0	1	0	0	0	14824	1493	52	5	433	5	SLFN13	17	33768044	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	16925018	33768044	47427166	214	96680											
IGF2BP1	10642	broad.mit.edu	37	chr17	47076494	47076494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtagaattacaaggaaaaCgcttagagattgaacattcg	18	9	9	5	2	0	3	0	1	0	2	1	5	0	4	0	1	3	2	0	1	9	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:47076494C>T	ENST00000290341.3	+	2	533	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R67C|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	67	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAAGGAAAACGCTTAGAGAT	0.478													15	106					0	0	0	0	T	47076494	C	T	47076494	3	4	497	1	0	0	0	0	1	0	0	0	7626	536	19	1	205	1	IGF2BP1	17	47076494	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	13308450	47076494	34118716	215	96681											
LUC7L3	51747	broad.mit.edu	37	chr17	48827910	48827910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtgtgaagtccggtagtcGagaaaagcagagtgaagaca	15	7	14	5	2	0	5	0	2	0	3	2	6	1	5	1	1	1	2	1	1	6	2	rs144920769		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:48827910G>A	ENST00000505658.1	+	10	1376	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	LUC7L3_ENST00000240304.1_Missense_Mutation_p.R396Q|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R396Q|LUC7L3_ENST00000544170.1_Missense_Mutation_p.R320Q			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	396					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TCCGGTAGTCGAGAAAAGCAG	0.373													7	110					0	0	0	0	A	48827910	G	A	48827910	3	1	497	1	0	0	0	0	1	0	0	0	9148	1058	37	1	1225	1	LUC7L3	17	48827910	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1751416	48827910	32367300	216	96682											
BPTF	2186	broad.mit.edu	37	chr17	65909123	65909123	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtacagctctgccatcctAtagaaaatttgttaccaaga	14	11	7	9	0	1	2	0	0	1	2	2	2	2	2	3	1	4	3	3	1	7	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:65909123A>G	ENST00000321892.4	+	13	5562	c.5501A>G	c.(5500-5502)tAt>tGt	p.Y1834C	BPTF_ENST00000424123.3_Missense_Mutation_p.Y1695C|BPTF_ENST00000335221.5_Missense_Mutation_p.Y1834C|BPTF_ENST00000306378.6_Missense_Mutation_p.Y1708C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1834					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGCCATCCTATAGAAAATTT	0.408													17	81					0	0	0	0	G	65909123	A	G	65909123	3	3	497	1	0	0	0	0	1	0	0	0	1503	449	16	5	5551	5	BPTF	17	65909123	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	17081213	65909123	15286087	217	96683											
RNF213	57674	broad.mit.edu	37	chr17	78360157	78360157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcctctgtgctaccgctCtcgtcagctacttgattcgc	4	13	10	14	3	3	1	1	1	2	0	5	1	3	1	2	1	4	3	2	1	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:78360157C>G	ENST00000582970.1	+	62	14790	c.14647C>G	c.(14647-14649)Ctc>Gtc	p.L4883V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4932V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L2956V|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			TGCTACCGCTCTCGTCAGCTA	0.532													4	177					0	0	0	0	G	78360157	C	G	78360157	3	3	497	1	0	0	0	0	1	0	0	0	13562	913	32	2	15208	2	RNF213	17	78360157	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	12451034	78360157	2835053	218	96684											
NDC80	10403	broad.mit.edu	37	chr18	2587842	2587842	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccatagttgtttttggactAcaccataaaatgctatgaga	13	13	7	8	0	0	1	0	1	0	1	0	3	0	2	2	1	2	3	2	1	5	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:2587842A>G	ENST00000261597.4	+	8	865	c.683A>G	c.(682-684)tAc>tGc	p.Y228C		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	228	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTTTTGGACTACACCATAAAA	0.358													37	141					0	0	0	0	G	2587842	A	G	2587842	3	3	497	1	0	0	0	0	1	0	0	0	10312	391	14	5	709	5	NDC80	18	2587842	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08		2587842	75489406	219	96685											
RNMT	8731	broad.mit.edu	37	chr18	13731920	13731920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcacttgaggatgttcCtgaaaagcagaaagtatgtt	15	11	10	5	0	0	3	0	2	0	1	1	4	1	4	1	1	2	5	1	1	6	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:13731920C>T	ENST00000383314.2	+	3	644	c.404C>T	c.(403-405)cCt>cTt	p.P135L	RNMT_ENST00000589866.1_Missense_Mutation_p.P135L|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000592764.1_Missense_Mutation_p.P135L|RNMT_ENST00000543302.2_Missense_Mutation_p.P135L|RNMT_ENST00000262173.3_Missense_Mutation_p.P135L			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	135					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GAGGATGTTCCTGAAAAGCAG	0.323													11	101					0	0	0	0	T	13731920	C	T	13731920	3	4	497	1	0	0	0	0	1	0	0	0	13591	681	24	4	406	4	RNMT	18	13731920	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	11144078	13731920	64345328	220	96686											
ZNF519	162655	broad.mit.edu	37	chr18	14105045	14105045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtaaggtgtgagctcctGgtaaaagctttgccacattc	10	12	11	8	0	0	2	0	2	0	0	2	2	1	2	2	2	3	4	2	2	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:14105045G>A	ENST00000590202.1	-	3	1646	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTGAGCTCCTGGTAAAAGCTT	0.408													10	121					0	0	0	0	A	14105045	G	A	14105045	2	1	497	1	0	0	0	0	0	0	0	1	18059	1335	47	4		4	ZNF519	18	14105045	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	373125	14105045	63972203	221	96687											
TTC39C	125488	broad.mit.edu	37	chr18	21660589	21660589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccttaggaaagcctggaaGatttacaataaatgctatct	15	12	7	7	0	1	1	0	0	1	1	2	3	2	3	2	2	3	1	2	2	8	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:21660589G>A	ENST00000317571.3	+	5	737	c.501G>A	c.(499-501)aaG>aaA	p.K167K	TTC39C_ENST00000304621.6_Silent_p.K106K|RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000578150.1_3'UTR	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	167							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGCCTGGAAGATTTACAATA	0.358													12	99					0	0	0	0	A	21660589	G	A	21660589	2	1	497	1	0	0	0	0	0	0	0	1	16805	933	33	2		2	TTC39C	18	21660589	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	7555544	21660589	56416659	222	96688											
PSTPIP2	9050	broad.mit.edu	37	chr18	43604625	43604625	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagagaggttgagcagatcTttgccatacctctcttcaat	10	13	8	10	0	3	3	1	1	2	2	4	4	3	3	2	1	3	2	2	1	3	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:43604625T>A	ENST00000409746.5	-	3	233	c.162A>T	c.(160-162)aaA>aaT	p.K54N	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.K54N|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	54	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TGAGCAGATCTTTGCCATACC	0.458													5	242					0	0	0	0	A	43604625	T	A	43604625	3	1	497	1	0	0	0	0	1	0	0	0	12801	1606	56	5	890	5	PSTPIP2	18	43604625	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	21944036	43604625	34472623	223	96689											
DSEL	92126	broad.mit.edu	37	chr18	65179834	65179834	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgattgtgggttccAtctgaaaagtaacattaaca	12	15	8	6	0	2	2	0	2	2	0	3	2	3	2	1	1	2	2	1	1	4	6			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:65179834A>C	ENST00000310045.7	-	2	3515	c.2042T>G	c.(2041-2043)aTg>aGg	p.M681R	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	671						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGGGTTCCATCTGAAAAGT	0.388													28	62					0	0	0	0	C	65179834	A	C	65179834	3	2	497	1	0	0	0	0	1	0	0	0	4811	217	8	5	1630	5	DSEL	18	65179834	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	21575209	65179834	12897414	224	96690											
DSEL	92126	broad.mit.edu	37	chr18	65181440	65181440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaggcaactttgtcttctgGgcataacaaacagtacaatg	15	10	8	8	0	2	0	0	0	2	0	2	0	2	0	0	2	4	3	0	2	6	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:65181440G>T	ENST00000310045.7	-	2	1909	c.436C>A	c.(436-438)Cca>Aca	p.P146T		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	136						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTGTCTTCTGGGCATAACAAA	0.423													20	74					6.33239e-15	7.11848e-15	1	0	T	65181440	G	T	65181440	3	4	497	1	0	0	0	0	1	0	0	0	4811	1232	43	4	3236	4	DSEL	18	65181440	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1606	65181440	12895808	225	96691											
RTTN	25914	broad.mit.edu	37	chr18	67727260	67727260	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatgaggtggccgtggtGatgtactttcctggtgacct	7	13	13	8	1	1	3	1	3	0	0	2	3	2	3	3	4	1	1	3	4	2	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:67727260G>T	ENST00000255674.6	-	36	5052	c.4766C>A	c.(4765-4767)tCa>tAa	p.S1589*	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1589							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGGCCGTGGTGATGTACTTTC	0.378													4	46					1.23904e-05	1.30721e-05	1	0	T	67727260	G	T	67727260	4	4	497	1	0	0	0	0	0	1	0	0	13822	1294	45	2	1970	2	RTTN	18	67727260	Nonsense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	2545820	67727260	10349988	226	96692											
FBXO15	201456	broad.mit.edu	37	chr18	71749185	71749185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatacagccatcaaaaatatCagttttccacgagaggccaa	16	9	6	10	1	2	1	2	0	0	1	3	2	3	1	3	1	2	1	3	1	6	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:71749185C>T	ENST00000269500.5	-	9	1347	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Missense_Mutation_p.D414N	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	338										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TCAAAAATATCAGTTTTCCAC	0.279													11	79					0	0	0	0	T	71749185	C	T	71749185	3	4	497	1	0	0	0	0	1	0	0	0	5773	826	29	2	300	2	FBXO15	18	71749185	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	4021925	71749185	6328063	227	96693											
DOCK6	57572	broad.mit.edu	37	chr19	11353808	11353808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacttgaagaggtcctcGtcactgagtcgctcagcctc	9	9	11	12	2	2	3	2	2	0	1	6	4	3	4	2	2	2	1	2	2	2	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:11353808G>A	ENST00000294618.7	-	13	1418	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	469					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGAGGTCCTCGTCACTGAGTC	0.647											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	68					0	0	0	0	A	11353808	G	A	11353808	2	1	497	1	0	0	0	0	0	0	0	1	4727	1136	40	1		1	DOCK6	19	11353808	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		11353808	47775175	228	96694											
OR7A17	26333	broad.mit.edu	37	chr19	14991960	14991960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggagatgaaacagatgtCtgcaaaggacaggttggaga	15	7	15	4	0	1	4	0	1	1	3	1	7	1	5	0	4	2	2	0	4	2	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:14991960C>G	ENST00000327462.2	-	1	304	c.208G>C	c.(208-210)Gac>Cac	p.D70H		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AAACAGATGTCTGCAAAGGAC	0.507													7	88					0	0	0	0	G	14991960	C	G	14991960	3	3	497	1	0	0	0	0	1	0	0	0	11286	913	32	2	723	2	OR7A17	19	14991960	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	3638152	14991960	44137023	229	96695											
AKAP8L	26993	broad.mit.edu	37	chr19	15514430	15514430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgcatttgtgtcagagCtaggcatttcccaagagtgt	8	15	11	7	0	1	2	1	0	0	2	2	2	2	2	1	1	2	4	1	1	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:15514430C>T	ENST00000397410.4	-	4	282	c.218G>A	c.(217-219)aGc>aAc	p.S73N	AKAP8L_ENST00000595465.1_Intron|AKAP8L_ENST00000595136.1_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	73						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTGTCAGAGCTAGGCATTTC	0.512													9	57					0	0	0	0	T	15514430	C	T	15514430	3	4	497	1	0	0	0	0	1	0	0	0	458	797	28	4	1766	4	AKAP8L	19	15514430	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	522470	15514430	43614553	230	96696											
MAST3	23031	broad.mit.edu	37	chr19	18256580	18256580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggacggaagccccgcccagGaggcgggcctgcgggctggg	6	2	20	13	4	0	0	0	0	0	0	0	3	0	3	4	7	2	1	4	7	1	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:18256580G>C	ENST00000262811.5	+	24	2980	c.2980G>C	c.(2980-2982)Gag>Cag	p.E994Q	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	994	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCGCCCAGGAGGCGGGCCT	0.687													4	23					0	0	0	0	C	18256580	G	C	18256580	3	2	497	1	0	0	0	0	1	0	0	0	9395	1175	41	2	3074	2	MAST3	19	18256580	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	2742150	18256580	40872403	231	96697											
UPF1	5976	broad.mit.edu	37	chr19	18965503	18965503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggattttgtgtggaagtCgacctcctttgacaggtacg	7	13	14	7	2	0	1	0	1	0	0	2	4	1	3	2	4	1	1	2	4	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:18965503C>T	ENST00000262803.5	+	9	1522	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	UPF1_ENST00000599848.1_Missense_Mutation_p.S428L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	428					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGTGGAAGTCGACCTCCTTT	0.567													12	146					0	0	0	0	T	18965503	C	T	18965503	3	4	497	1	0	0	0	0	1	0	0	0	17099	893	31	1	1284	1	UPF1	19	18965503	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	708923	18965503	40163480	232	96698											
ZNF254	9534	broad.mit.edu	37	chr19	24309791	24309791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgaagaatgtggcaaagCatttatatggtcctcaacac	13	11	10	7	0	1	2	1	1	0	1	2	2	2	2	1	2	2	2	1	2	6	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:24309791C>T	ENST00000357002.4	+	4	1104	c.989C>T	c.(988-990)gCa>gTa	p.A330V	ZNF254_ENST00000342944.6_Missense_Mutation_p.A245V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	330					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGTGGCAAAGCATTTATATGG	0.403													11	73					0	0	0	0	T	24309791	C	T	24309791	3	4	497	1	0	0	0	0	1	0	0	0	17893	710	25	4	1003	4	ZNF254	19	24309791	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	5344288	24309791	34819192	233	96699											
MAG	4099	broad.mit.edu	37	chr19	35801000	35801000	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccaggccccgccccgCgtcatctgcaccgcgaggaa	7	3	12	19	5	2	0	1	0	1	0	2	2	2	1	6	3	1	1	6	3	1	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:35801000C>T	ENST00000361922.4	+	8	1605	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	MAG_ENST00000537831.2_Silent_p.R460R|MAG_ENST00000392213.3_Silent_p.R485R|MAG_ENST00000593348.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	485	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCCCGCGTCATCTGCA	0.697													24	74					0	0	0	0	T	35801000	C	T	35801000	2	4	497	1	0	0	0	0	0	0	0	1	9227	755	27	1		1	MAG	19	35801000	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	11491209	35801000	23327983	234	96700											
ZNF567	163081	broad.mit.edu	37	chr19	37211198	37211198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaatctcaatctacatcaGagaattcatacaggggagaa	18	8	7	8	0	4	2	3	0	2	2	5	4	4	2	0	2	2	0	0	2	6	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:37211198G>C	ENST00000585696.1	+	3	2709	c.1479G>C	c.(1477-1479)caG>caC	p.Q493H	ZNF567_ENST00000360729.4_Missense_Mutation_p.Q493H|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q493H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q493H|ZNF567_ENST00000536254.2_Missense_Mutation_p.Q524H			Q8N184	ZN567_HUMAN	zinc finger protein 567	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCTACATCAGAGAATTCATA	0.403													14	65					0	0	0	0	C	37211198	G	C	37211198	3	2	497	1	0	0	0	0	1	0	0	0	18093	933	33	2	1489	2	ZNF567	19	37211198	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1410198	37211198	21917785	235	96701											
SPTBN4	57731	broad.mit.edu	37	chr19	41018683	41018683	+	Frame_Shift_Del	DEL	A	A	-																															ccgagagctgggcgcgcgacAaggagcgtctcctggaggct																										TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41018683delA	ENST00000352632.3	+	14	2073	c.1987delA	c.(1987-1989)agfs	p.K663fs	SPTBN4_ENST00000598249.1_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000338932.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000344104.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000595535.1_Frame_Shift_Del_p.K663fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	663					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCGCGCGACAAGGAGCGTCT	0.771													2	4	---	---	---	---					-	41018683	A	-	41018683	7	5	497	1	0	1	0	1	0	0	0	0	15211	131	5	0	2037	0	SPTBN4	19	41018683	Frame_Shift_Del	DEL	A	TCGA-UF-A7JA-01A-12D-A34J-08	3807485	41018683	18110300	236	96702											
CYP2A13	1553	broad.mit.edu	37	chr19	41600977	41600977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaggggcagtttaagaaGagtgatgcttttgtgccctt	11	12	13	5	0	0	4	0	1	0	3	0	4	0	4	1	2	2	3	1	2	4	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41600977G>C	ENST00000330436.3	+	8	1275	c.1275G>C	c.(1273-1275)aaG>aaC	p.K425N		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	425					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGTTTAAGAAGAGTGATGCTT	0.577													5	187					0	0	0	0	C	41600977	G	C	41600977	3	2	497	1	0	0	0	0	1	0	0	0	4193	933	33	2	1305	2	CYP2A13	19	41600977	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	582294	41600977	17528006	237	96703											
AXL	558	broad.mit.edu	37	chr19	41759572	41759572	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggagtatctgagtacCaagagattcatacaccggga	13	8	12	8	1	2	2	1	1	1	1	2	5	2	4	2	3	2	3	2	3	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41759572C>G	ENST00000301178.4	+	17	2185	c.1995C>G	c.(1993-1995)acC>acG	p.T665T	AXL_ENST00000359092.3_Silent_p.T656T|AXL_ENST00000593513.1_Silent_p.T397T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	665	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATCTGAGTACCAAGAGATTCA	0.597													4	51					0	0	0	0	G	41759572	C	G	41759572	2	3	497	1	0	0	0	0	0	0	0	1	1242	581	21	4		4	AXL	19	41759572	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	158595	41759572	17369411	238	96704											
CEACAM7	1087	broad.mit.edu	37	chr19	42190886	42190886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgtgggtgacgttctGgatcagcagggttccattgg	6	13	15	7	1	3	1	2	1	1	0	4	2	4	2	1	4	1	3	1	4	0	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:42190886G>C	ENST00000006724.3	-	2	532	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000338196.4_Missense_Mutation_p.Q111E|CEACAM7_ENST00000602225.1_Missense_Mutation_p.Q111E	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	111	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTGACGTTCTGGATCAGCAGG	0.413													5	303					0	0	0	0	C	42190886	G	C	42190886	3	2	497	1	0	0	0	0	1	0	0	0	3226	1357	47	4	478	4	CEACAM7	19	42190886	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	431314	42190886	16938097	239	96705											
ZNF226	7769	broad.mit.edu	37	chr19	44680026	44680026	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtaagaagggtgttgAtcccatcggttggatttcac	10	13	11	7	1	2	2	2	1	0	1	4	3	3	3	1	3	0	3	1	3	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:44680026A>G	ENST00000590089.1	+	7	978	c.611A>G	c.(610-612)gAt>gGt	p.D204G	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.D204G|ZNF226_ENST00000337433.5_Missense_Mutation_p.D204G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AAGGGTGTTGATCCCATCGGT	0.343													8	79					0	0	0	0	G	44680026	A	G	44680026	3	3	497	1	0	0	0	0	1	0	0	0	17875	333	12	5	679	5	ZNF226	19	44680026	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	2489140	44680026	14448957	240	96706											
ERCC1	2067	broad.mit.edu	37	chr19	45920135	45920135	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatcttagccagctccttGagggcctgctggggatcttt	6	12	11	12	0	2	1	0	1	2	0	3	2	3	2	3	3	3	2	3	3	1	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:45920135G>C	ENST00000300853.3	-	6	1137	c.546C>G	c.(544-546)ctC>ctG	p.L182L	ERCC1_ENST00000589165.1_Silent_p.L182L|ERCC1_ENST00000591636.1_Silent_p.L182L|ERCC1_ENST00000423698.2_Silent_p.L110L|ERCC1_ENST00000013807.5_Silent_p.L182L|ERCC1_ENST00000340192.7_Silent_p.L182L	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	182					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGCTCCTTGAGGGCCTGCT	0.527								Nucleotide excision repair (NER)					6	20					0	0	0	0	C	45920135	G	C	45920135	2	2	497	1	0	0	0	0	0	0	0	1	5250	1277	45	2		2	ERCC1	19	45920135	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	1240109	45920135	13208848	241	96707											
GPR4	2828	broad.mit.edu	37	chr19	46094344	46094344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcagaaaagacgcgctcctCgaagccgcagtcccaggggc	10	4	13	14	4	0	2	0	0	0	2	3	3	2	2	3	2	2	3	3	2	3	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:46094344C>G	ENST00000323040.4	-	2	1725	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261						integral to plasma membrane	G-protein coupled receptor activity	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCGCTCCTCGAAGCCGCAG	0.637													5	97					0	0	0	0	G	46094344	C	G	46094344	3	3	497	1	0	0	0	0	1	0	0	0	6743	893	31	3	311	3	GPR4	19	46094344	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	174209	46094344	13034639	242	96708											
VRK3	51231	broad.mit.edu	37	chr19	50512578	50512578	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataatcggggagaggtgacGgtgctggaccatttcacttt	9	11	14	7	2	1	2	1	1	0	1	2	5	1	3	1	5	1	1	1	5	1	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:50512578G>A	ENST00000599538.1	-	4	868	c.204C>T	c.(202-204)acC>acT	p.T68T	VRK3_ENST00000601912.1_Intron|VRK3_ENST00000593919.1_Silent_p.T68T|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000594948.1_Silent_p.T68T|VRK3_ENST00000594092.1_Silent_p.T68T|VRK3_ENST00000316763.3_Silent_p.T68T|VRK3_ENST00000377011.2_Intron|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	68						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GAGAGGTGACGGTGCTGGACC	0.463													5	231					0	0	0	0	A	50512578	G	A	50512578	2	1	497	1	0	0	0	0	0	0	0	1	17317	1103	39	1		1	VRK3	19	50512578	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	4418234	50512578	8616405	243	96709											
ZNF649	65251	broad.mit.edu	37	chr19	52394092	52394092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagctttctcacactcatCacagccatagggtctctctc	9	12	6	14	0	5	0	3	0	3	0	8	0	5	0	1	1	2	2	1	1	2	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:52394092C>T	ENST00000354957.3	-	5	1581	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	ZNF649_ENST00000600738.1_Missense_Mutation_p.D405N|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCACACTCATCACAGCCATAG	0.438													40	220					0	0	0	0	T	52394092	C	T	52394092	3	4	497	1	0	0	0	0	1	0	0	0	18159	826	29	2	224	2	ZNF649	19	52394092	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	1881514	52394092	6734891	244	96710											
ZNF468	90333	broad.mit.edu	37	chr19	53344884	53344884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgcaattaaaggatttGaagctctgtatacattcaaa	15	12	8	6	0	2	1	1	1	1	0	2	3	2	2	0	1	4	4	0	1	7	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53344884G>A	ENST00000595646.1	-	4	783	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ZNF468_ENST00000396409.4_Silent_p.F168F|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.F168F|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TAAAGGATTTGAAGCTCTGTA	0.313													26	99					0	0	0	0	A	53344884	G	A	53344884	2	1	497	1	0	0	0	0	0	0	0	1	18023	1281	45	2		2	ZNF468	19	53344884	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	950792	53344884	5784099	245	96711											
ZNF765	91661	broad.mit.edu	37	chr19	53912379	53912379	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagagaaactacacgtgtAatgagtgtggtaagaccttc	13	10	12	6	1	0	3	0	1	0	2	1	5	0	4	1	2	2	2	1	2	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53912379A>T	ENST00000396408.3	+	4	1688	c.1571A>T	c.(1570-1572)tAa>tTa	p.*524L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CTACACGTGTAATGAGTGTGG	0.378													5	51					0	0	0	0	T	53912379	A	T	53912379	4	4	497	1	0	0	0	0	0	0	0	0	18233	369	13	5	1581	5	ZNF765	19	53912379	Nonstop_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	567495	53912379	5216604	246	96712											
ZNF813	126017	broad.mit.edu	37	chr19	53994186	53994186	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcactcttaaggaaacatCaaataatccatttaggagag	16	10	7	8	0	3	1	2	0	1	1	4	3	4	2	1	2	1	1	1	2	5	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53994186C>G	ENST00000396403.4	+	4	828	c.700C>G	c.(700-702)Caa>Gaa	p.Q234E	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAGGAAACATCAAATAATCCA	0.383													14	150					0	0	0	0	G	53994186	C	G	53994186	3	3	497	1	0	0	0	0	1	0	0	0	18268	827	29	2	710	2	ZNF813	19	53994186	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	81807	53994186	5134797	247	96713											
LILRA3	11026	broad.mit.edu	37	chr19	54803281	54803281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcctgaggtcaccacaggGctgggcagagctgagagggt	8	6	16	11	0	1	3	1	2	0	2	2	4	2	3	3	4	1	3	3	4	0	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:54803281G>A	ENST00000391745.1	-	8	763	c.447C>T	c.(445-447)agC>agT	p.S149S	LILRA3_ENST00000391744.3_Silent_p.S132S|LILRA3_ENST00000251390.3_Silent_p.S132S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACCACAGGGCTGGGCAGAG	0.567													35	189					0	0	0	0	A	54803281	G	A	54803281	2	1	497	1	0	0	0	0	0	0	0	1	8840	1194	42	4		4	LILRA3	19	54803281	Silent	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	809095	54803281	4325702	248	96714											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189695	58189695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctgacaacccatacAactcaaaaagagcagagcta	16	9	5	11	0	3	3	1	1	2	2	3	3	3	3	1	0	5	2	1	0	6	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:58189695A>G	ENST00000318203.5	+	5	1421	c.724A>G	c.(724-726)Aac>Gac	p.N242D		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	242					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAACCCATACAACTCAAAAAG	0.448													16	73					0	0	0	0	G	58189695	A	G	58189695	3	3	497	1	0	0	0	0	1	0	0	0	18328	130	5	5	734	5	ZSCAN4	19	58189695	Missense_Mutation	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	3386414	58189695	939288	249	96715											
TGM3	7053	broad.mit.edu	37	chr20	2315829	2315829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgaagtcagacaacatgatCcggatcacagcggtgtgcaa	13	7	11	10	2	2	3	2	2	0	1	3	4	3	4	1	2	3	1	1	2	3	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:2315829C>G	ENST00000381458.5	+	11	1773	c.1710C>G	c.(1708-1710)atC>atG	p.I570M		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	570					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACAACATGATCCGGATCACAG	0.557													18	149					0	0	0	0	G	2315829	C	G	2315829	3	3	497	1	0	0	0	0	1	0	0	0	15925	845	30	2	1752	2	TGM3	20	2315829	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08		2315829	60709691	250	96716											
KIF16B	55614	broad.mit.edu	37	chr20	16359523	16359523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgactgctctctgctgcCactgttcagactggcaagtt	6	12	9	14	0	2	2	1	1	1	1	3	2	2	2	2	1	3	5	2	1	1	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:16359523C>T	ENST00000354981.2	-	19	3281	c.3124G>A	c.(3124-3126)Ggc>Agc	p.G1042S	KIF16B_ENST00000355755.3_Missense_Mutation_p.G1042S|KIF16B_ENST00000408042.1_Missense_Mutation_p.G1042S|KIF16B_ENST00000378003.2_Missense_Mutation_p.G268S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1042	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTCTGCTGCCACTGTTCAGA	0.602													8	200					0	0	0	0	T	16359523	C	T	16359523	3	4	497	1	0	0	0	0	1	0	0	0	8329	594	21	4	861	4	KIF16B	20	16359523	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	14043694	16359523	46665997	251	96717											
XRN2	22803	broad.mit.edu	37	chr20	21367541	21367541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctctgctcccatggaaccGgatgctgcaaacccagaatg	11	7	9	14	1	1	1	0	0	1	1	2	3	2	3	4	2	5	3	4	2	3	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:21367541G>A	ENST00000377191.3	+	29	2779	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	XRN2_ENST00000539513.1_Missense_Mutation_p.R841Q|XRN2_ENST00000430571.2_Missense_Mutation_p.R819Q	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	895					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCATGGAACCGGATGCTGCAA	0.527													29	121					0	0	0	0	A	21367541	G	A	21367541	3	1	497	1	0	0	0	0	1	0	0	0	17556	1116	39	1	2798	1	XRN2	20	21367541	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	5008018	21367541	41657979	252	96718											
FAM83D	81610	broad.mit.edu	37	chr20	37580732	37580732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtccagatcgaccactactCagactgacatggatgagaac	13	7	10	11	1	1	4	1	2	0	3	3	7	2	5	2	2	2	0	2	2	2	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:37580732C>G	ENST00000217429.4	+	4	1458	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	443	Ser-rich.				cell division|mitosis	cytoplasm|spindle pole		p.Q473*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GACCACTACTCAGACTGACAT	0.468													7	123					0	0	0	0	G	37580732	C	G	37580732	3	3	497	1	0	0	0	0	1	0	0	0	5682	827	29	2	1431	2	FAM83D	20	37580732	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	16213191	37580732	25444788	253	96719											
ARFGEF2	10564	broad.mit.edu	37	chr20	47602086	47602086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtttccgcctacctggaGaagcccaaaagattgaccga	13	7	10	11	2	0	3	0	1	0	2	1	5	1	3	5	2	2	1	5	2	5	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:47602086G>A	ENST00000371917.4	+	16	2212	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	738	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTACCTGGAGAAGCCCAAAA	0.478													7	83					0	0	0	0	A	47602086	G	A	47602086	3	1	497	1	0	0	0	0	1	0	0	0	855	943	33	2	2274	2	ARFGEF2	20	47602086	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	10021354	47602086	15423434	254	96720											
ARFGEF2	10564	broad.mit.edu	37	chr20	47621631	47621631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaaccctaatgaagatGtggctatctttgctgttgac	9	13	10	9	0	1	3	0	2	1	1	1	3	1	3	1	1	3	5	1	1	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:47621631G>A	ENST00000371917.4	+	26	3457	c.3457G>A	c.(3457-3459)Gtg>Atg	p.V1153M		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1153					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAATGAAGATGTGGCTATCTT	0.433													9	363					0	0	0	0	A	47621631	G	A	47621631	3	1	497	1	0	0	0	0	1	0	0	0	855	1377	48	4	3559	4	ARFGEF2	20	47621631	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	19545	47621631	15403889	255	96721											
SYCP2	10388	broad.mit.edu	37	chr20	58467456	58467456	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaggatgatttttgtttAgtaagttttttatttataac	12	20	8	1	0	0	2	0	1	0	1	0	4	0	3	0	1	1	3	0	1	6	11			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:58467456A>G	ENST00000357552.3	-	24	2178	c.1953T>C	c.(1951-1953)acT>acC	p.T651T	SYCP2_ENST00000371001.2_Silent_p.T651T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	651					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTTGTTTAGTAAGTTTTT	0.229													10	45					0	0	0	0	G	58467456	A	G	58467456	2	3	497	1	0	0	0	0	0	0	0	1	15523	407	15	5		5	SYCP2	20	58467456	Silent	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	10845825	58467456	4558064	256	96722											
CDH26	60437	broad.mit.edu	37	chr20	58559753	58559753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaacactccaaattctCaagtcctttacttcctcatt	14	13	2	12	0	2	1	2	0	1	1	6	1	5	1	3	0	2	0	3	0	6	5			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:58559753C>G	ENST00000348616.4	+	6	901	c.601C>G	c.(601-603)Caa>Gaa	p.Q201E	CDH26_ENST00000244047.5_Missense_Mutation_p.Q201E	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	201	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCCAAATTCTCAAGTCCTTTA	0.373													17	213					0	0	0	0	G	58559753	C	G	58559753	3	3	497	1	0	0	0	0	1	0	0	0	3139	827	29	2	623	2	CDH26	20	58559753	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	92297	58559753	4465767	257	96723											
IGSF5	150084	broad.mit.edu	37	chr21	41143078	41143078	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgacttgcgtggctacCtggaagagcctgaaggcccg	8	9	13	11	2	0	3	0	2	0	1	0	4	0	4	3	3	3	1	3	3	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr21:41143078C>A	ENST00000380588.4	+	4	757	c.654C>A	c.(652-654)acC>acA	p.T218T	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	218	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GCGTGGCTACCTGGAAGAGCC	0.493													19	76					4.63292e-17	5.22607e-17	1	0	A	41143078	C	A	41143078	2	1	497	1	0	0	0	0	0	0	0	1	7655	668	24	4		4	IGSF5	21	41143078	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08		41143078	6986817	258	96724											
DSCAM	1826	broad.mit.edu	37	chr21	41496213	41496213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggacacaaagaccatggagGctgaggccgccgctgccttc	10	5	13	13	2	0	2	0	1	0	1	1	4	0	4	4	4	1	2	4	4	1	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr21:41496213G>C	ENST00000400454.1	-	20	4082	c.3605C>G	c.(3604-3606)gCc>gGc	p.A1202G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1202	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACCATGGAGGCTGAGGCCGC	0.587													20	136					0	0	0	0	C	41496213	G	C	41496213	3	2	497	1	0	0	0	0	1	0	0	0	4804	1203	42	4	2489	4	DSCAM	21	41496213	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	353135	41496213	6633682	259	96725											
YPEL1	29799	broad.mit.edu	37	chr22	22057760	22057760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcagggccgcagcccaCgttcaccctgcggggacaga	7	5	13	16	3	2	1	1	0	1	1	2	2	2	2	3	3	3	3	3	3	0	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:22057760C>T	ENST00000339468.3	-	4	552	c.169G>A	c.(169-171)Gtg>Atg	p.V57M		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	57						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CCGCAGCCCACGTTCACCCTG	0.687													4	90					0	0	0	0	T	22057760	C	T	22057760	3	4	497	1	0	0	0	0	1	0	0	0	17585	536	19	1	198	1	YPEL1	22	22057760	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08		22057760	29246806	260	96726											
CABIN1	23523	broad.mit.edu	37	chr22	24567822	24567822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgctcacaccaagcctCgccctgcactagctgccgcc	7	7	9	18	2	1	1	1	1	0	0	2	1	1	1	5	0	5	3	5	0	2	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:24567822C>T	ENST00000398319.2	+	34	6284	c.5899C>T	c.(5899-5901)Cgc>Tgc	p.R1967C	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000405822.2_Missense_Mutation_p.R1888C|CABIN1_ENST00000337989.7_Missense_Mutation_p.R392C|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1967C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1967					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.R1967C(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACCAAGCCTCGCCCTGCACT	0.627													10	79					0	0	0	0	T	24567822	C	T	24567822	3	4	497	1	0	0	0	0	1	0	0	0	2553	884	31	1	6029	1	CABIN1	22	24567822	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	2510062	24567822	26736744	261	96727											
TTLL8	164714	broad.mit.edu	37	chr22	50479651	50479651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggggctcaaatgacaTcataaccttctggattttga	10	13	11	7	0	3	2	2	2	1	0	3	3	3	3	1	4	1	1	1	4	2	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:50479651T>C	ENST00000266182.6	-	8	885	c.886A>G	c.(886-888)Atg>Gtg	p.M296V	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCAAATGACATCATAACCTTC	0.552													40	126					0	0	0	0	C	50479651	T	C	50479651	3	2	497	1	0	0	0	0	1	0	0	0	16829	1435	50	5	1645	5	TTLL8	22	50479651	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	25911829	50479651	824915	262	96728											
STS	412	broad.mit.edu	37	chrX	7268167	7268167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcggacagacacacccaGaccctgccagaggtgcccga	10	3	12	16	2	0	3	0	0	0	3	0	5	0	4	4	2	3	1	4	2	0	0			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:7268167G>C	ENST00000217961.4	+	10	1837	c.1617G>C	c.(1615-1617)caG>caC	p.Q539H		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	539					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GACACACCCAGACCCTGCCAG	0.542									Ichthyosis				5	93					0	0	0	0	C	7268167	G	C	7268167	3	2	497	1	0	0	0	0	1	0	0	0	15422	933	33	2	1655	2	STS	23	7268167	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08		7268167	148002393	263	96729											
PNPLA4	8228	broad.mit.edu	37	chrX	7890081	7890081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcataaccgggcgttactGccccgaaagactgccttctg	9	9	10	13	3	2	1	1	0	1	1	2	2	2	1	4	1	4	1	4	1	3	3			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:7890081G>T	ENST00000381042.4	-	3	409	c.239C>A	c.(238-240)gCa>gAa	p.A80E	PNPLA4_ENST00000444736.1_Missense_Mutation_p.A80E|PNPLA4_ENST00000537427.1_5'UTR	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	80	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GGGCGTTACTGCCCCGAAAGA	0.408													6	54					0.00198382	0.00203373	1	0	T	7890081	G	T	7890081	3	4	497	1	0	0	0	0	1	0	0	0	12239	1319	46	4	542	4	PNPLA4	23	7890081	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	621914	7890081	147380479	264	96730											
TMEM27	57393	broad.mit.edu	37	chrX	15682496	15682496	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttctgatactaagtctCactttaaaagcattttctgc	10	16	6	9	0	3	1	1	1	3	0	4	1	3	1	0	0	3	3	0	0	4	7			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:15682496C>A	ENST00000380342.3	-	2	336	c.81G>T	c.(79-81)gtG>gtT	p.V27V		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	27					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					TACTAAGTCTCACTTTAAAAG	0.358													3	16					0.150653	0.150653	1	0	A	15682496	C	A	15682496	2	1	497	1	0	0	0	0	0	0	0	1	16246	813	29	2		2	TMEM27	23	15682496	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	7792415	15682496	139588064	265	96731											
NHS	4810	broad.mit.edu	37	chrX	17746841	17746841	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagcagagggtgtgtTcgtgtctccaaacaaacctc	11	9	11	10	1	1	2	0	1	1	1	4	2	1	2	2	1	4	3	2	1	3	1			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:17746841T>G	ENST00000380060.3	+	7	4570	c.4232T>G	c.(4231-4233)tTc>tGc	p.F1411C	NHS_ENST00000398097.3_Missense_Mutation_p.F1255C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1411						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGGGTGTGTTCGTGTCTCCA	0.413													18	135					0	0	0	0	G	17746841	T	G	17746841	3	3	497	1	0	0	0	0	1	0	0	0	10481	1783	62	5	4363	5	NHS	23	17746841	Missense_Mutation	SNP	T	TCGA-UF-A7JA-01A-12D-A34J-08	2064345	17746841	137523719	266	96732											
MAGEB1	4112	broad.mit.edu	37	chrX	30269420	30269420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcccccacgctatcaattCctatggggtccgagagccta	9	9	9	14	2	1	1	1	0	0	1	4	3	4	1	5	2	1	1	5	2	4	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:30269420C>A	ENST00000378981.3	+	4	1131	c.810C>A	c.(808-810)ttC>ttA	p.F270L	MAGEB1_ENST00000397548.2_Missense_Mutation_p.F270L|MAGEB1_ENST00000397550.1_Missense_Mutation_p.F270L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	270	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCTATCAATTCCTATGGGGTC	0.507													11	135					6.40141e-05	6.73181e-05	1	0	A	30269420	C	A	30269420	3	1	497	1	0	0	0	0	1	0	0	0	9241	854	30	2	812	2	MAGEB1	23	30269420	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	12522579	30269420	125001140	267	96733											
TBC1D25	4943	broad.mit.edu	37	chrX	48417605	48417605	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcgtatggggaagatgtCaagcccttcaagccacccct	9	9	11	12	1	2	1	2	0	0	1	3	2	2	2	4	3	2	1	4	3	4	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:48417605C>G	ENST00000376771.4	+	5	917	c.576C>G	c.(574-576)gtC>gtG	p.V192V	TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	192						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGGAAGATGTCAAGCCCTTCA	0.587													7	38					0	0	0	0	G	48417605	C	G	48417605	2	3	497	1	0	0	0	0	0	0	0	1	15706	813	29	2		2	TBC1D25	23	48417605	Silent	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	18148185	48417605	106852955	268	96734											
HDAC6	10013	broad.mit.edu	37	chrX	48682632	48682632	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaccatggaaattctggAcacccgctggtcctcagcta	11	8	8	14	1	2	0	1	0	1	0	3	2	3	2	3	3	2	2	3	3	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:48682632A>T	ENST00000334136.5	+	28	3685	c.3507A>T	c.(3505-3507)ggA>ggT	p.G1169G	HDAC6_ENST00000444343.2_Silent_p.G1183G|HDAC6_ENST00000376619.2_Silent_p.G1169G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1169					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAAATTCTGGACACCCGCTGG	0.582													10	81					0	0	0	0	T	48682632	A	T	48682632	2	4	497	1	0	0	0	0	0	0	0	1	7061	262	10	5		5	HDAC6	23	48682632	Silent	SNP	A	TCGA-UF-A7JA-01A-12D-A34J-08	265027	48682632	106587928	269	96735											
XAGE5	170627	broad.mit.edu	37	chrX	52844131	52844131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtgcctaacctggaagCtgatctccaggagctgtctc	8	11	10	12	0	3	1	1	1	2	0	5	3	3	3	3	2	4	2	3	2	2	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:52844131C>A	ENST00000351072.1	+	4	260	c.194C>A	c.(193-195)gCt>gAt	p.A65D	XAGE5_ENST00000375501.1_Missense_Mutation_p.A65D|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000425386.1_Missense_Mutation_p.A65D			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	65										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AACCTGGAAGCTGATCTCCAG	0.438													14	82					9.31168e-06	9.88797e-06	1	0	A	52844131	C	A	52844131	3	1	497	1	0	0	0	0	1	0	0	0	17517	797	28	4	204	4	XAGE5	23	52844131	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	4161499	52844131	102426429	270	96736											
PCDH11X	27328	broad.mit.edu	37	chrX	91134144	91134144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcatccaagaactgcctctcGataacacctttgtggcctgt	9	12	7	13	1	2	1	1	0	1	1	4	2	3	1	4	1	3	0	4	1	3	2			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:91134144G>C	ENST00000373094.1	+	2	3750	c.2905G>C	c.(2905-2907)Gat>Cat	p.D969H	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D969H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D969H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	969					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGCCTCTCGATAACACCTT	0.512													18	250					0	0	0	0	C	91134144	G	C	91134144	3	2	497	1	0	0	0	0	1	0	0	0	11579	1058	37	3	2911	3	PCDH11X	23	91134144	Missense_Mutation	SNP	G	TCGA-UF-A7JA-01A-12D-A34J-08	38290013	91134144	64136416	271	96737											
MAGEC1	9947	broad.mit.edu	37	chrX	140996369	140996369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctagagtaccgggaggtgcCcaactcttctcctcctcgtt	6	11	9	15	2	2	1	0	0	2	1	5	2	3	2	5	2	3	2	5	2	3	4			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:140996369C>A	ENST00000285879.4	+	4	3465	c.3179C>A	c.(3178-3180)cCc>cAc	p.P1060H	MAGEC1_ENST00000406005.2_Missense_Mutation_p.P127H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1060	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CGGGAGGTGCCCAACTCTTCT	0.517										HNSCC(15;0.026)			27	176					1.1804e-14	1.32237e-14	1	0	A	140996369	C	A	140996369	3	1	497	1	0	0	0	0	1	0	0	0	9249	623	22	4	3185	4	MAGEC1	23	140996369	Missense_Mutation	SNP	C	TCGA-UF-A7JA-01A-12D-A34J-08	49862225	140996369	14274191	272	96738											
PTCHD2	57540	broad.mit.edu	37	chr1	11561648	11561648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccacagccaatcggaGcgggcgacttcggcgtgaga	11	4	14	12	5	0	1	0	1	0	1	2	4	0	2	2	3	3	0	2	3	2	1			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:11561648G>A	ENST00000294484.6	+	2	737	c.599G>A	c.(598-600)aGc>aAc	p.S200N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S200N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	200					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCAATCGGAGCGGGCGACTT	0.682													5	7					0	0	0	0	A	11561648	G	A	11561648	3	1	498	1	0	0	0	0	1	0	0	0	12812	971	34	4	601	4	PTCHD2	1	11561648	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		11561648	237688973	1	96739											
PTCHD2	57540	broad.mit.edu	37	chr1	11586758	11586758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagctgaccgcttgtatGtctacagtagggctgctcca	10	10	11	10	1	1	2	0	1	1	1	2	2	2	2	2	1	3	6	2	1	5	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:11586758G>A	ENST00000294484.6	+	13	2802	c.2664G>A	c.(2662-2664)atG>atA	p.M888I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.M888I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	888					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGCTTGTATGTCTACAGTAG	0.572													97	160					0	0	0	0	A	11586758	G	A	11586758	3	1	498	1	0	0	0	0	1	0	0	0	12812	1377	48	4	2710	4	PTCHD2	1	11586758	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	25110	11586758	237663863	2	96740											
CCBL2	56267	broad.mit.edu	37	chr1	89427797	89427797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattctcaccatgggctcaTagcagtcatagaaaggcact	12	9	8	12	0	3	1	3	0	1	1	4	1	3	1	2	2	1	3	2	2	3	3			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:89427797T>C	ENST00000260508.4	-	6	822	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.Y128C|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	162					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CATGGGCTCATAGCAGTCATA	0.378													19	66					0	0	0	0	C	89427797	T	C	89427797	3	2	498	1	0	0	0	0	1	0	0	0	2758	1406	49	5	915	5	CCBL2	1	89427797	Missense_Mutation	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08	77841039	89427797	159822824	3	96741											
SPTA1	6708	broad.mit.edu	37	chr1	158596713	158596713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaacttccaagcagctaTtgccttagccagagaagggg	11	9	11	10	0	0	1	0	0	0	1	1	2	1	1	3	2	6	3	3	2	5	5			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:158596713T>C	ENST00000368148.3	-	41	5929	c.5749A>G	c.(5749-5751)Ata>Gta	p.I1917V	SPTA1_ENST00000368147.3_Missense_Mutation_p.I1914V|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1917					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAGCAGCTATTGCCTTAGCC	0.458													76	88					0	0	0	0	C	158596713	T	C	158596713	3	2	498	1	0	0	0	0	1	0	0	0	15206	1493	52	5	1558	5	SPTA1	1	158596713	Missense_Mutation	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08	69168916	158596713	90653908	4	96742											
ABL2	27	broad.mit.edu	37	chr1	179077240	179077240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattggccattttggctggCgagatggaagatgtgggcag	8	10	16	7	1	0	2	0	0	0	2	0	4	0	3	2	5	0	2	2	5	1	3	rs148651616		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:179077240C>T	ENST00000502732.1	-	12	3365	c.3162G>A	c.(3160-3162)tcG>tcA	p.S1054S	ABL2_ENST00000507173.1_Silent_p.S930S|ABL2_ENST00000511413.1_Silent_p.S951S|ABL2_ENST00000367623.4_Silent_p.S1033S|ABL2_ENST00000504405.1_Silent_p.S915S|ABL2_ENST00000344730.3_Silent_p.S936S|ABL2_ENST00000512653.1_Silent_p.S1039S|ABL2_ENST00000408940.3_Silent_p.S1018S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1054	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S1018S(1)|p.S1054S(1)|p.S1039S(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTTGGCTGGCGAGATGGAAG	0.542			T	ETV6	AML								29	72					0	0	0	0	T	179077240	C	T	179077240	2	4	498	1	0	0	0	0	0	0	0	1	93	755	27	1		1	ABL2	1	179077240	Silent	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	20480527	179077240	70173381	5	96743											
EGLN1	54583	broad.mit.edu	37	chr1	231557605	231557605	+	Frame_Shift_Del	DEL	C	C	-																															tctcgctcgctcgggctcggCccgccgggcccgccgctgtc																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:231557605delC	ENST00000366641.3	-	1	3185	c.30delG	c.(28-30)ggfs	p.G10fs		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	10					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TCGGGCTCGGCCCGCCGGGCC	0.751													2	4	---	---	---	---					-	231557605	C	-	231557605	7	5	498	1	0	1	0	1	0	0	0	0	5004	726	26	0	1270	0	EGLN1	1	231557605	Frame_Shift_Del	DEL	C	TCGA-UF-A7JC-01A-21D-A34J-08	52480365	231557605	17693016	6	96744											
FMN2	56776	broad.mit.edu	37	chr1	240637438	240637438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttttcagaaagcaaagaTaagcatgaaaacttgaacaa	19	10	7	5	0	1	4	1	2	0	2	1	4	1	4	0	0	4	3	0	0	7	5			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:240637438T>C	ENST00000319653.9	+	18	5383	c.5153T>C	c.(5152-5154)aTa>aCa	p.I1718T	FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000543681.1_Missense_Mutation_p.I38T|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000545751.1_Missense_Mutation_p.I314T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1718					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAAGCAAAGATAAGCATGAAA	0.333													32	35					0	0	0	0	C	240637438	T	C	240637438	3	2	498	1	0	0	0	0	1	0	0	0	5995	1406	49	5	5223	5	FMN2	1	240637438	Missense_Mutation	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08	9079833	240637438	8613183	7	96745											
KIF26B	55083	broad.mit.edu	37	chr1	245847604	245847604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtaccaccatgatcgcGcacatctcggccgcggtcgg	6	7	12	16	7	1	1	0	1	1	0	4	1	1	1	4	3	2	2	4	3	1	1			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:245847604G>A	ENST00000366518.4	+	8	1289	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	KIF26B_ENST00000407071.2_Silent_p.A776A			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	776					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCATGATCGCGCACATCTCGG	0.542													15	47					0	0	0	0	A	245847604	G	A	245847604	2	1	498	1	0	0	0	0	0	0	0	1	8346	1074	38	1		1	KIF26B	1	245847604	Silent	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	5210166	245847604	3403017	8	96746											
HOXD9	3235	broad.mit.edu	37	chr2	176988776	176988776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcttcaacatgtacctcaCccgggaccggcgctacgagg	8	7	10	16	4	3	0	2	0	1	0	3	2	3	1	4	3	3	2	4	3	3	3			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:176988776C>T	ENST00000249499.6	+	2	1341	c.932C>T	c.(931-933)aCc>aTc	p.T311I	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	311						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ATGTACCTCACCCGGGACCGG	0.507													64	71					0	0	0	0	T	176988776	C	T	176988776	3	4	498	1	0	0	0	0	1	0	0	0	7376	507	18	4	938	4	HOXD9	2	176988776	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08		176988776	66210597	9	96747											
TTN	7273	broad.mit.edu	37	chr2	179484433	179484433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcttaatatcacaaatCtgtagtcgatgtatctttcc	10	14	8	9	2	3	0	1	0	2	0	5	1	4	0	1	2	0	3	1	2	5	5			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:179484433C>A	ENST00000589042.1	-	250	46835	c.46611G>T	c.(46609-46611)caG>caT	p.Q15537H	TTN_ENST00000591111.1_Missense_Mutation_p.Q13896H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q6664H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q6597H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q6472H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q12969H|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13896	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCACAAATCTGTAGTCGAT	0.413													56	94					9.59835e-30	1.13013e-29	1	0	A	179484433	C	A	179484433	3	1	498	1	0	0	0	0	1	0	0	0	16831	912	32	2	61534	2	TTN	2	179484433	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	2495657	179484433	63714940	10	96748											
ALS2	57679	broad.mit.edu	37	chr2	202631979	202631979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaactccatgtttcaCtccgagggctgcctgcaaaa	12	8	9	12	1	1	2	1	0	0	2	3	3	3	2	3	1	3	3	3	1	4	1			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:202631979C>T	ENST00000264276.6	-	3	520	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.V50M	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	50					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCATGTTTCACTCCGAGGGCT	0.488													37	37					0	0	0	0	T	202631979	C	T	202631979	3	4	498	1	0	0	0	0	1	0	0	0	550	565	20	4	5031	4	ALS2	2	202631979	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	23147546	202631979	40567394	11	96749											
MYH15	22989	broad.mit.edu	37	chr3	108183634	108183634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaggaaacatacactcttCttcaaggatggaaaggatgc	14	10	9	8	0	3	0	1	0	2	0	3	4	3	4	0	4	3	0	0	4	5	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:108183634C>T	ENST00000273353.3	-	16	1698	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	548	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						ATACACTCTTCTTCAAGGATG	0.433													57	31					0	0	0	0	T	108183634	C	T	108183634	3	4	498	1	0	0	0	0	1	0	0	0	10104	922	32	2	4306	2	MYH15	3	108183634	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08		108183634	89838796	12	96750											
CDH9	1007	broad.mit.edu	37	chr5	26906904	26906904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcactatttccatagttGgcgtcatctgcatctgttgc	6	16	9	10	1	3	0	1	0	2	0	4	0	4	0	1	2	2	4	1	2	2	6			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:26906904G>T	ENST00000231021.4	-	4	739	c.567C>A	c.(565-567)gcC>gcA	p.A189A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	189	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCATAGTTGGCGTCATCTG	0.408													32	52					1.45844e-13	1.54298e-13	1	0	T	26906904	G	T	26906904	2	4	498	1	0	0	0	0	0	0	0	1	3146	1335	47	4		4	CDH9	5	26906904	Silent	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		26906904	154008356	13	96751											
GPR98	84059	broad.mit.edu	37	chr5	89953721	89953721	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaacttgtctctaatttcaGgtcctgggatactgagaatt	11	15	8	7	0	2	1	1	1	1	1	4	3	3	2	1	2	2	0	1	2	5	6			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:89953721G>T	ENST00000405460.2	+	21	4474		c.e21-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTAATTTCAGGTCCTGGGAT	0.393													23	13					1.64293e-13	1.71334e-13	1	0	T	89953721	G	T	89953721	5	4	498	1	0	0	0	0	0	0	1	0	6771	1014	35	4	4460	4	GPR98	5	89953721	Splice_Site	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	63046817	89953721	90961539	14	96752											
FNIP1	96459	broad.mit.edu	37	chr5	131008049	131008049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgactctaagcctgaCtctgacaatgcacatttgtc	9	14	7	11	0	3	3	0	3	3	0	4	3	3	3	1	0	2	2	1	0	2	3			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:131008049C>A	ENST00000307968.7	-	13	2003	c.2004G>T	c.(2002-2004)gaG>gaT	p.E668D	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.E651D|FNIP1_ENST00000510461.1_Missense_Mutation_p.E696D	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTAAGCCTGACTCTGACAATG	0.433													107	54					1.42366e-38	1.73212e-38	1	0	A	131008049	C	A	131008049	3	1	498	1	0	0	0	0	1	0	0	0	6020	564	20	4	1432	4	FNIP1	5	131008049	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	41054328	131008049	49907211	15	96753											
HCRTR2	3062	broad.mit.edu	37	chr6	55147083	55147083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccttggagttcaccatcGccaggaggatcggctcacca	8	9	11	13	2	2	0	2	0	0	0	4	3	2	3	4	4	1	2	4	4	0	3			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr6:55147083G>A	ENST00000370862.3	+	7	1502	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	389					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCACCATCGCCAGGAGGAT	0.443													14	26					0	0	0	0	A	55147083	G	A	55147083	3	1	498	1	0	0	0	0	1	0	0	0	7052	1087	38	1	1192	1	HCRTR2	6	55147083	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		55147083	115967984	16	96754											
PTPRK	5796	broad.mit.edu	37	chr6	128304107	128304107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttctaaaatggcatcatGaataaaaatgtactgttcct	14	13	7	7	0	2	1	1	1	1	0	3	1	3	1	1	2	1	4	1	2	7	5			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr6:128304107G>A	ENST00000368227.3	-	25	3823	c.3457C>T	c.(3457-3459)Cat>Tat	p.H1153Y	PTPRK_ENST00000368213.5_Missense_Mutation_p.H1142Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.H1168Y|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1154Y|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1136Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.H1135Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1158Y			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1135					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGCATCATGAATAAAAATG	0.318													31	45					0	0	0	0	A	128304107	G	A	128304107	3	1	498	1	0	0	0	0	1	0	0	0	12887	1290	45	2	944	2	PTPRK	6	128304107	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	73157024	128304107	42810960	17	96755											
TRRAP	8295	broad.mit.edu	37	chr7	98495430	98495430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcccccagaaatggttggtAtgataacaacgattgctgtg	11	11	10	9	1	0	2	0	1	0	1	1	3	1	2	2	2	3	3	2	2	4	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:98495430A>G	ENST00000359863.4	+	8	783	c.574A>G	c.(574-576)Atg>Gtg	p.M192V	TRRAP_ENST00000355540.3_Missense_Mutation_p.M192V|TRRAP_ENST00000446306.3_Missense_Mutation_p.M192V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	192					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATGGTTGGTATGATAACAAC	0.443													70	88					0	0	0	0	G	98495430	A	G	98495430	3	3	498	1	0	0	0	0	1	0	0	0	16696	449	16	5	600	5	TRRAP	7	98495430	Missense_Mutation	SNP	A	TCGA-UF-A7JC-01A-21D-A34J-08		98495430	60643233	18	96756											
SSPO	23145	broad.mit.edu	37	chr7	149492440	149492440	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctcagggatggcacgctgGaggggatgcttatgccaagt	8	8	15	10	1	1	0	1	0	0	0	1	3	1	3	2	5	2	3	2	5	2	1			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:149492440G>A	ENST00000378016.2	+	0	6329							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCACGCTGGAGGGGATGCT	0.657													11	9					0	0	0	0	A	149492440	G	A	149492440	1	1	498	0	1	0	0	0	0	0	0	0	15279	1174	41	2		2	SSPO	7	149492440	RNA	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	50997010	149492440	9646223	19	96757											
EPPK1	83481	broad.mit.edu	37	chr8	144940411	144940411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgatctgggcctccagcagGcggatgccgtgctcccggac	5	6	15	15	4	1	0	0	0	1	0	3	3	3	2	4	4	3	2	4	4	0	0			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr8:144940411G>A	ENST00000525985.1	-	2	7082	c.7011C>T	c.(7009-7011)cgC>cgT	p.R2337R				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCAGCAGGCGGATGCCGT	0.701													43	944					0	0	0	0	A	144940411	G	A	144940411	2	1	498	1	0	0	0	0	0	0	0	1	5228	1190	42	4		4	EPPK1	8	144940411	Silent	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		144940411	1423611	20	96758											
COL27A1	85301	broad.mit.edu	37	chr9	117062952	117062952	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatccagggccctcggggGccacctggcttgatggtgag	5	7	17	12	1	0	2	0	2	0	0	2	2	1	2	4	6	0	2	4	6	0	1			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:117062952G>T	ENST00000356083.3	+	51	5077	c.4686G>T	c.(4684-4686)ggG>ggT	p.G1562G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1562	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCTCGGGGGCCACCTGGCT	0.612													13	18					3.27435e-08	3.36659e-08	1	0	T	117062952	G	T	117062952	2	4	498	1	0	0	0	0	0	0	0	1	3715	1190	42	4		4	COL27A1	9	117062952	Silent	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		117062952	24150479	21	96759											
SCAI	286205	broad.mit.edu	37	chr9	127738413	127738413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtaaagcttttggatatGctgtaggagaaagcaagcag	13	11	12	5	0	0	1	0	0	0	1	0	3	0	2	0	2	4	6	0	2	6	6			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:127738413G>A	ENST00000336505.5	-	15	1437	c.1379C>T	c.(1378-1380)gCa>gTa	p.A460V	SCAI_ENST00000373549.4_Missense_Mutation_p.A483V	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	460					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTTTGGATATGCTGTAGGAGA	0.333													12	77					0	0	0	0	A	127738413	G	A	127738413	3	1	498	1	0	0	0	0	1	0	0	0	13955	1319	46	4	457	4	SCAI	9	127738413	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	10675461	127738413	13475018	22	96760											
SEC16A	9919	broad.mit.edu	37	chr9	139350102	139350102	+	Silent	SNP	A	A	C																															gagtgctcagggctcggtgcAggcaccgccagcagagggtt																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:139350102A>C	ENST00000313050.7	-	18	5881	c.5808T>G	c.(5806-5808)ccT>ccG	p.P1936P	SEC16A_ENST00000290037.6_Silent_p.P1758P|SEC16A_ENST00000371706.3_Silent_p.P1758P|SEC16A_ENST00000431893.2_Silent_p.P1758P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1758	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTCGGTGCAGGCACCGCCA	0.677													3	11					0	0	0	0	C	139350102	A	C	139350102	2	2	498	1	0	0	0	0	0	0	0	1	14073	175	7	5		5	SEC16A	9	139350102	Silent	SNP	A	TCGA-UF-A7JC-01A-21D-A34J-08	11611689	139350102	1863329	23	96761	1156	2									
SEC16A	9919	broad.mit.edu	37	chr9	139350103	139350103	+	Missense_Mutation	SNP	G	G	T																															agtgctcagggctcggtgcaGgcaccgccagcagagggttg																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:139350103G>T	ENST00000313050.7	-	18	5880	c.5807C>A	c.(5806-5808)cCt>cAt	p.P1936H	SEC16A_ENST00000290037.6_Missense_Mutation_p.P1758H|SEC16A_ENST00000371706.3_Missense_Mutation_p.P1758H|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1758H	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1758	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTCGGTGCAGGCACCGCCAG	0.677													3	11					0.115264	0.115264	1	0	T	139350103	G	T	139350103	3	4	498	1	0	0	0	0	1	0	0	0	14073	1000	35	4	1318	4	SEC16A	9	139350103	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	1	139350103	1863328	24	96762	1156	2									
FAM178A	55719	broad.mit.edu	37	chr10	102676438	102676438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatcctcaccaaaagaatCtaaacccaaaagggtgccac	17	6	5	13	0	2	1	1	0	1	1	3	1	3	1	4	1	2	0	4	1	8	2			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr10:102676438C>G	ENST00000238961.3	+	3	444	c.296C>G	c.(295-297)tCt>tGt	p.S99C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S99C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S99C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	99																	CCAAAAGAATCTAAACCCAAA	0.393													21	42					0	0	0	0	G	102676438	C	G	102676438	3	3	498	1	0	0	0	0	1	0	0	0	5544	913	32	2	306	2	FAM178A	10	102676438	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08		102676438	32858309	25	96763											
OSBP	5007	broad.mit.edu	37	chr11	59361581	59361581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactggtgcggaagacagTagtggagtaggaggacacgg	11	7	17	6	2	0	1	0	0	0	1	0	5	0	5	0	6	2	2	0	6	4	3			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:59361581T>C	ENST00000263847.1	-	8	1938	c.1459A>G	c.(1459-1461)Act>Gct	p.T487A		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	487					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CGGAAGACAGTAGTGGAGTAG	0.498													23	36					0	0	0	0	C	59361581	T	C	59361581	3	2	498	1	0	0	0	0	1	0	0	0	11344	1638	57	5	992	5	OSBP	11	59361581	Missense_Mutation	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08		59361581	75644935	26	96764											
PGM2L1	283209	broad.mit.edu	37	chr11	74053584	74053584	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagcaaatgttccacaaaaTtttggatattcttttggaga	14	15	7	5	0	1	1	0	0	1	1	2	3	2	2	1	2	1	2	1	2	5	8			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:74053584T>C	ENST00000298198.4	-	12	1865	c.1554A>G	c.(1552-1554)aaA>aaG	p.K518K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	518					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCCACAAAATTTTGGATATT	0.328													146	84					0	0	0	0	C	74053584	T	C	74053584	2	2	498	1	0	0	0	0	0	0	0	1	11871	1490	52	5		5	PGM2L1	11	74053584	Silent	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08	14692003	74053584	60952932	27	96765											
MRPL51	51258	broad.mit.edu	37	chr12	6601546	6601546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaaccattttcctctttCggatacaacgttgcaattca	10	15	4	12	2	2	0	1	0	1	0	5	1	4	1	3	1	4	2	3	1	4	7			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:6601546C>T	ENST00000229238.3	-	3	739	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	93					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TTTCCTCTTTCGGATACAACG	0.443													143	332					0	0	0	0	T	6601546	C	T	6601546	3	4	498	1	0	0	0	0	1	0	0	0	9885	884	31	1	112	1	MRPL51	12	6601546	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08		6601546	127250349	28	96766											
KRT4	3851	broad.mit.edu	37	chr12	53202561	53202561	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaataatgctgtccaggTccaggttgcggttgttgtcc	6	12	13	10	2	0	0	0	0	0	0	3	0	3	0	3	4	2	5	3	4	2	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:53202561T>C	ENST00000293774.4	-	5	1400	c.1130A>G	c.(1129-1131)gAc>gGc	p.D377G	KRT4_ENST00000458244.2_Missense_Mutation_p.D283G|KRT4_ENST00000551956.1_Missense_Mutation_p.D303G			B4DRS2	B4DRS2_HUMAN	keratin 4	303						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTGTCCAGGTCCAGGTTGCG	0.587													15	61					0	0	0	0	C	53202561	T	C	53202561	3	2	498	1	0	0	0	0	1	0	0	0	8529	1667	58	5	674	5	KRT4	12	53202561	Missense_Mutation	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08	46601015	53202561	80649334	29	96767											
GCN1L1	10985	broad.mit.edu	37	chr12	120582451	120582451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggtacctactttgaggaTacaggggatgatgggcccca	10	9	13	9	0	0	2	0	2	0	0	0	4	0	4	3	5	3	1	3	5	3	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:120582451T>C	ENST00000300648.6	-	41	5356	c.5344A>G	c.(5344-5346)Atc>Gtc	p.I1782V		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1782					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTTTGAGGATACAGGGGATG	0.532													26	79					0	0	0	0	C	120582451	T	C	120582451	3	2	498	1	0	0	0	0	1	0	0	0	6348	1406	49	5	2743	5	GCN1L1	12	120582451	Missense_Mutation	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08	67379890	120582451	13269444	30	96768											
DACH1	1602	broad.mit.edu	37	chr13	72049862	72049862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagaccctgagactatctgTtgaagctgcctgttttagcg	9	13	10	9	1	1	3	0	2	1	2	1	4	1	3	2	0	3	3	2	0	4	5			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr13:72049862T>C	ENST00000305425.4	-	9	2418	c.1996A>G	c.(1996-1998)Aca>Gca	p.T666A	DACH1_ENST00000313174.7_Missense_Mutation_p.T518A|DACH1_ENST00000354591.4_Missense_Mutation_p.T464A|DACH1_ENST00000359684.2_Missense_Mutation_p.T718A	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	716	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGACTATCTGTTGAAGCTGCC	0.398													133	275					0	0	0	0	C	72049862	T	C	72049862	3	2	498	1	0	0	0	0	1	0	0	0	4253	1725	60	5	142	5	DACH1	13	72049862	Missense_Mutation	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08		72049862	43120016	31	96769											
OR10G3	26533	broad.mit.edu	37	chr14	22038026	22038026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtagataagggggttgaGgaaaggagtgatggccgtgg	11	8	20	2	1	0	3	0	2	0	1	0	5	0	5	1	6	0	2	1	6	3	3			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:22038026G>T	ENST00000303532.1	-	1	849	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGGGGGTTGAGGAAAGGAGTG	0.552													41	66					4.01765e-15	4.37744e-15	1	0	T	22038026	G	T	22038026	3	4	498	1	0	0	0	0	1	0	0	0	10971	1000	35	4	94	4	OR10G3	14	22038026	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		22038026	85311514	32	96770											
DLGAP5	9787	broad.mit.edu	37	chr14	55647979	55647979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagtttgtcttggacCaggtcggattgctcgaacat	9	13	11	8	2	2	1	1	0	1	1	4	4	2	3	1	3	2	2	1	3	2	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:55647979C>A	ENST00000247191.2	-	5	748	c.532G>T	c.(532-534)Ggt>Tgt	p.G178C	DLGAP5_ENST00000395425.2_Missense_Mutation_p.G178C	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	178					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTCTTGGACCAGGTCGGATT	0.348													35	54					8.16277e-20	9.16742e-20	1	0	A	55647979	C	A	55647979	3	1	498	1	0	0	0	0	1	0	0	0	4600	594	21	4	2163	4	DLGAP5	14	55647979	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	33609953	55647979	51701561	33	96771											
PSMA3	5684	broad.mit.edu	37	chr14	58714471	58714471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccttttctccttaagtatGacctgtcagcctctacattc	7	15	5	14	0	3	1	1	1	2	0	5	1	3	1	4	0	2	1	4	0	3	6			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:58714471G>A	ENST00000216455.4	+	2	115	c.25G>A	c.(25-27)Gac>Aac	p.D9N	PSMA3_ENST00000557508.1_Intron|PSMA3_ENST00000412908.2_Missense_Mutation_p.D9N	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	9					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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CCTTAAGTATGACCTGTCAGC	0.403													25	49					0	0	0	0	A	58714471	G	A	58714471	3	1	498	1	0	0	0	0	1	0	0	0	12747	1290	45	2	31	2	PSMA3	14	58714471	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	3066492	58714471	48635069	34	96772											
PRIMA1	145270	broad.mit.edu	37	chr14	94187794	94187811	+	In_Frame_Del	DEL	ACCACTGCGTTGTTCACG	ACCACTGCGTTGTTCACG	-																															tccagggcctgcagactcacAccactgcgttgttcacgtct																								rs145428699		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:94187794_94187811delACCACTGCGTTGTTCACG	ENST00000393140.1	-	5	543_560	c.441_458delCGTGAACAACGCAGTGGT	c.(439-459)gag>ga	p.DVNNAVV147del	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_In_Frame_Del_p.DVNNAVV147del	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	147					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCAGACTCACACCACTGCGTTGTTCACGTCTACTCCTT	0.573													15	32	---	---	---	---					-	94187811	ACCACTGCGTTGTTCACG	-	94187794	7	5	498	1	0	1	0	1	0	0	0	0	12572	159	6	0	7	0	PRIMA1	14	94187794	In_Frame_Del	DEL	ACCACTGCGTTGTTCACG	TCGA-UF-A7JC-01A-21D-A34J-08	35473323	94187794	13161746	35	96773											
HERC2	8924	broad.mit.edu	37	chr15	28357065	28357065	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttgcagaagtggatggcGtacttgagcttctcctccag	8	11	12	10	1	1	2	0	1	1	1	3	4	2	3	2	2	3	3	2	2	2	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:28357065G>A	ENST00000261609.7	-	93	14457	c.14349C>T	c.(14347-14349)taC>taT	p.Y4783Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4783	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTGGATGGCGTACTTGAGCT	0.552													24	53					0	0	0	0	A	28357065	G	A	28357065	2	1	498	1	0	0	0	0	0	0	0	1	7108	1140	40	1		1	HERC2	15	28357065	Silent	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		28357065	74174327	36	96774											
BBS4	585	broad.mit.edu	37	chr15	73028230	73028230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggcgagaagaagaacGccctggcccaatatcaggag	14	3	13	11	2	1	3	1	0	0	3	1	5	1	4	3	3	1	0	3	3	5	1			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:73028230G>T	ENST00000268057.4	+	14	1212	c.1171G>T	c.(1171-1173)Gcc>Tcc	p.A391S	BBS4_ENST00000395205.2_Missense_Mutation_p.A399S|BBS4_ENST00000539603.1_Missense_Mutation_p.A379S|BBS4_ENST00000542334.1_Missense_Mutation_p.A219S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483									Bardet-Biedl syndrome				51	164					2.76378e-25	3.20248e-25	1	0	T	73028230	G	T	73028230	3	4	498	1	0	0	0	0	1	0	0	0	1343	1087	38	3	1225	3	BBS4	15	73028230	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	44671165	73028230	29503162	37	96775											
SLC12A4	6560	broad.mit.edu	37	chr16	67983743	67983743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtcgagggaggcgatgaGgatgcccagctcggcgatga	9	6	17	9	4	0	2	0	2	0	0	2	7	0	4	1	4	2	1	1	4	0	0			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr16:67983743G>A	ENST00000422611.2	-	12	1753	c.1714C>T	c.(1714-1716)Ctc>Ttc	p.L572F	SLC12A4_ENST00000576616.1_Missense_Mutation_p.L570F|SLC12A4_ENST00000338335.3_Missense_Mutation_p.L570F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.L522F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.L539F|SLC12A4_ENST00000316341.3_Missense_Mutation_p.L570F|SLC12A4_ENST00000537830.2_Missense_Mutation_p.L564F	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	570					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGGCGATGAGGATGCCCAGC	0.632													4	19					0	0	0	0	A	67983743	G	A	67983743	3	1	498	1	0	0	0	0	1	0	0	0	14473	1000	35	4	1597	4	SLC12A4	16	67983743	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		67983743	22371010	38	96776											
SCARF1	8578	broad.mit.edu	37	chr17	1542221	1542221	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcccgactgccagagcCtgggggagccagaaacgggg	9	4	17	11	2	0	2	0	0	0	2	1	4	1	3	4	4	4	0	4	4	1	0			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:1542221C>T	ENST00000263071.4	-	8	1293		c.e8-1		SCARF1_ENST00000571272.1_Splice_Site|SCARF1_ENST00000348987.3_Splice_Site	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCCAGAGCCTGGGGGAGCC	0.627													25	25					0	0	0	0	T	1542221	C	T	1542221	5	4	498	1	0	0	0	0	0	0	1	0	13969	695	24	4	1265	4	SCARF1	17	1542221	Splice_Site	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08		1542221	79652989	39	96777											
MYH8	4626	broad.mit.edu	37	chr17	10317327	10317327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagatggacactttctcttCaggagtgaagcccaggatgt	11	11	11	8	0	2	2	1	1	1	1	3	5	2	5	1	3	1	0	1	3	2	3			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:10317327C>T	ENST00000403437.2	-	12	1133	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	347	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTTTCTCTTCAGGAGTGAAG	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				44	80					0	0	0	0	T	10317327	C	T	10317327	3	4	498	1	0	0	0	0	1	0	0	0	10111	835	29	2	4890	2	MYH8	17	10317327	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	8775106	10317327	70877883	40	96778											
KCNJ12	3768	broad.mit.edu	37	chr17	21318755	21318755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccaacggcttcggcaacgGcaaggtgcacacgcggcgca	9	3	14	15	7	0	0	0	0	0	0	1	0	0	0	1	5	3	5	1	5	3	1			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:21318755G>A	ENST00000583088.1	+	3	996	c.101G>A	c.(100-102)gGc>gAc	p.G34D	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G34D	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TTCGGCAACGGCAAGGTGCAC	0.632										Prostate(3;0.18)			6	76					0	0	0	0	A	21318755	G	A	21318755	3	1	498	1	0	0	0	0	1	0	0	0	8099	1203	42	4	103	4	KCNJ12	17	21318755	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08	11001428	21318755	59876455	41	96779											
EFTUD2	9343	broad.mit.edu	37	chr17	42931928	42931930	+	In_Frame_Del	DEL	GAG	GAG	-																															atcagttctgctgtacctcaGagggcagagtatcatccacc																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:42931928_42931930delGAG	ENST00000426333.2	-	22	2550_2552	c.2253_2255delCTC	c.(2251-2256)cct>cc	p.PS751del	EFTUD2_ENST00000592576.1_In_Frame_Del_p.PS741del|EFTUD2_ENST00000591382.1_In_Frame_Del_p.PS751del|EFTUD2_ENST00000402521.3_In_Frame_Del_p.PS716del	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	751						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTGTACCTCAGAGGGCAGAGTAT	0.522													38	85	---	---	---	---					-	42931930	GAG	-	42931928	7	5	498	1	0	1	0	1	0	0	0	0	4997	942	33	0	691	0	EFTUD2	17	42931928	In_Frame_Del	DEL	GAG	TCGA-UF-A7JC-01A-21D-A34J-08	21613173	42931928	38263282	42	96780											
SMAD4	4089	broad.mit.edu	37	chr18	48575159	48575159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttaaatattgtcagtatgCgtttgacttaaaatgtgata	13	17	8	3	1	1	2	1	2	0	0	1	2	1	2	0	0	1	3	0	0	7	7			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr18:48575159C>T	ENST00000342988.3	+	3	891	c.353C>T	c.(352-354)gCg>gTg	p.A118V	SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V|SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	118	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTCAGTATGCGTTTGACTTA	0.398													26	12					0	0	0	0	T	48575159	C	T	48575159	3	4	498	1	0	0	0	0	1	0	0	0	14848	768	27	1	359	1	SMAD4	18	48575159	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08		48575159	29502089	43	96781											
SAFB	6294	broad.mit.edu	37	chr19	5657267	5657267	+	Missense_Mutation	SNP	G	G	A																															actaggcttccaaaagccagGatcgcaaatcagccagcaga																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5657267G>A	ENST00000292123.5	+	14	1878	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	SAFB_ENST00000592224.1_Missense_Mutation_p.D591N|SAFB_ENST00000538656.1_Missense_Mutation_p.D434N|SAFB_ENST00000433404.1_Missense_Mutation_p.D421N|SAFB_ENST00000454510.1_Missense_Mutation_p.D522N|SAFB_ENST00000588852.1_Missense_Mutation_p.D591N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	591	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAAAAGCCAGGATCGCAAATC	0.488													21	43					0	0	0	0	A	5657267	G	A	5657267	3	1	498	1	0	0	0	0	1	0	0	0	13891	1174	41	2	1825	2	SAFB	19	5657267	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		5657267	53471716	44	96782	1157	2									
SAFB	6294	broad.mit.edu	37	chr19	5657268	5657268	+	Missense_Mutation	SNP	A	A	C																															ctaggcttccaaaagccaggAtcgcaaatcagccagcagag																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5657268A>C	ENST00000292123.5	+	14	1879	c.1772A>C	c.(1771-1773)gAt>gCt	p.D591A	SAFB_ENST00000592224.1_Missense_Mutation_p.D591A|SAFB_ENST00000538656.1_Missense_Mutation_p.D434A|SAFB_ENST00000433404.1_Missense_Mutation_p.D421A|SAFB_ENST00000454510.1_Missense_Mutation_p.D522A|SAFB_ENST00000588852.1_Missense_Mutation_p.D591A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	591	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAAAGCCAGGATCGCAAATCA	0.493													21	45					0	0	0	0	C	5657268	A	C	5657268	3	2	498	1	0	0	0	0	1	0	0	0	13891	333	12	5	1826	5	SAFB	19	5657268	Missense_Mutation	SNP	A	TCGA-UF-A7JC-01A-21D-A34J-08	1	5657268	53471715	45	96783	1157	2									
LONP1	9361	broad.mit.edu	37	chr19	5693347	5693349	+	In_Frame_Del	DEL	TCT	TCT	-																															gatgccaccaacaggcaggaTcttgcccgtgagggagactt																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5693347_5693349delTCT	ENST00000360614.3	-	17	2820_2822	c.2663_2665delAGA	c.(2662-2667)atc>a	p.KI888del	LONP1_ENST00000590729.1_In_Frame_Del_p.KI758del|LONP1_ENST00000593119.1_In_Frame_Del_p.KI824del|LONP1_ENST00000540670.2_In_Frame_Del_p.KI692del|LONP1_ENST00000585374.1_In_Frame_Del_p.KI774del	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	888					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGGCAGGATCTTGCCCGTGAG	0.65													21	42	---	---	---	---					-	5693349	TCT	-	5693347	7	5	498	1	0	1	0	1	0	0	0	0	8956	1435	50	0	222	0	LONP1	19	5693347	In_Frame_Del	DEL	TCT	TCGA-UF-A7JC-01A-21D-A34J-08	36079	5693347	53435636	46	96784											
PDE4C	5143	broad.mit.edu	37	chr19	18333077	18333077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatccggcccaggccagggCtggactgagggtccagggcc	7	5	16	13	1	0	1	0	1	0	0	2	2	2	2	5	6	0	1	5	6	1	1			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:18333077C>T	ENST00000355502.3	-	6	1170	c.299G>A	c.(298-300)aGc>aAc	p.S100N	PDE4C_ENST00000594617.2_Missense_Mutation_p.S100N|PDE4C_ENST00000447275.2_5'UTR|PDE4C_ENST00000262805.11_Missense_Mutation_p.S68N|PDE4C_ENST00000594465.2_Missense_Mutation_p.S100N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	100					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CAGGCCAGGGCTGGACTGAGG	0.612													7	59					0	0	0	0	T	18333077	C	T	18333077	3	4	498	1	0	0	0	0	1	0	0	0	11712	797	28	4	1895	4	PDE4C	19	18333077	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	12639730	18333077	40795906	47	96785											
ZNF30	90075	broad.mit.edu	37	chr19	35435232	35435232	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggttcatactggagagaaAccctatgagtgtaaggaatg	14	9	13	5	0	1	2	1	1	0	1	1	5	1	4	1	3	2	2	1	3	5	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:35435232A>C	ENST00000439785.1	+	5	1809	c.1365A>C	c.(1363-1365)aaA>aaC	p.K455N	ZNF30_ENST00000426813.2_Missense_Mutation_p.K373N|ZNF30_ENST00000601142.1_Missense_Mutation_p.K454N|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.K455N	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTGGAGAGAAACCCTATGAGT	0.443													14	40					0	0	0	0	C	35435232	A	C	35435232	3	2	498	1	0	0	0	0	1	0	0	0	17925	40	2	5	1379	5	ZNF30	19	35435232	Missense_Mutation	SNP	A	TCGA-UF-A7JC-01A-21D-A34J-08	17102155	35435232	23693751	48	96786											
ZNF28	7576	broad.mit.edu	37	chr19	53303097	53303097	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattaaaaaccttgccacaTtcattacacttgtaaggttt	13	15	5	8	0	1	1	1	1	0	0	1	1	1	1	2	1	3	2	2	1	5	7			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:53303097T>C	ENST00000438150.2	-	2	2735	c.1842A>G	c.(1840-1842)gaA>gaG	p.E614E	ZNF28_ENST00000414252.2_Silent_p.E614E|ZNF28_ENST00000457749.2_Silent_p.E667E|ZNF28_ENST00000360272.4_Silent_p.E614E			P17035	ZNF28_HUMAN	zinc finger protein 28	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCTTGCCACATTCATTACACT	0.423													33	156					0	0	0	0	C	53303097	T	C	53303097	2	2	498	1	0	0	0	0	0	0	0	1	17908	1490	52	5		5	ZNF28	19	53303097	Silent	SNP	T	TCGA-UF-A7JC-01A-21D-A34J-08	17867865	53303097	5825886	49	96787			1	162		2	2	29	N	T_C	4.79367e-05
ZNF28	7576	broad.mit.edu	37	chr19	53303125	53303125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtaaggtttctctccaCtatgaagcctatgatggtat	10	15	8	8	0	1	2	0	2	1	0	3	2	2	2	2	2	1	3	2	2	5	6			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:53303125C>G	ENST00000438150.2	-	2	2707	c.1814G>C	c.(1813-1815)aGt>aCt	p.S605T	ZNF28_ENST00000414252.2_Missense_Mutation_p.S605T|ZNF28_ENST00000457749.2_Missense_Mutation_p.S658T|ZNF28_ENST00000360272.4_Missense_Mutation_p.S605T			P17035	ZNF28_HUMAN	zinc finger protein 28	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCCACTATGAAGCCT	0.428													17	166					0	0	0	0	G	53303125	C	G	53303125	3	3	498	1	0	0	0	0	1	0	0	0	17908	565	20	4	187	4	ZNF28	19	53303125	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	28	53303125	5825858	50	96788			1	162		2	2	29	N	T_C	4.79367e-05
DEFB116	245930	broad.mit.edu	37	chr20	29891139	29891139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacttttgatcatttGggcaggttaagtattggatt	9	15	12	5	0	1	1	1	1	0	0	1	2	1	2	0	4	1	5	0	4	2	7			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr20:29891139G>T	ENST00000400549.1	-	2	184	c.185C>A	c.(184-186)cCa>cAa	p.P62Q		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	62					defense response to bacterium	extracellular region		p.P62Q(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGATCATTTGGGCAGGTTAA	0.423													95	210					9.47431e-33	1.13381e-32	1	0	T	29891139	G	T	29891139	3	4	498	1	0	0	0	0	1	0	0	0	4441	1348	47	4	126	4	DEFB116	20	29891139	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		29891139	33134381	51	96789											
ZRSR2	8233	broad.mit.edu	37	chrX	15841049	15841049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactactacagcaggctgcGgggaaggagaaaccctagtc	12	5	13	11	2	0	1	0	0	0	1	1	4	0	2	1	4	5	2	1	4	5	3			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:15841049G>A	ENST00000307771.7	+	11	1157	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	378					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGCAGGCTGCGGGGAAGGAGA	0.532			"F, S, Mis"		"MDS, CLL"								30	46					0	0	0	0	A	15841049	G	A	15841049	3	1	498	1	0	0	0	0	1	0	0	0	18318	1116	39	1	1175	1	ZRSR2	23	15841049	Missense_Mutation	SNP	G	TCGA-UF-A7JC-01A-21D-A34J-08		15841049	139429511	52	96790											
TIMP1	7076	broad.mit.edu	37	chrX	47445926	47445926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcccttccaggtgtttCcctgtttatccatcccctgc	3	15	5	18	0	0	0	0	0	0	0	6	0	6	0	7	1	1	2	7	1	1	4			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:47445926C>T	ENST00000218388.4	+	6	630	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Missense_Mutation_p.P90S	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	154					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						CCAGGTGTTTCCCTGTTTATC	0.572													22	8					0	0	0	0	T	47445926	C	T	47445926	3	4	498	1	0	0	0	0	1	0	0	0	16011	855	30	2	478	2	TIMP1	23	47445926	Missense_Mutation	SNP	C	TCGA-UF-A7JC-01A-21D-A34J-08	31604877	47445926	107824634	53	96791											
CCDC22	28952	broad.mit.edu	37	chrX	49103374	49103374	+	Frame_Shift_Del	DEL	C	C	-																															ttcacgcactcagagaagttCaccttccatctggtgggtgc																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:49103374delC	ENST00000376227.3	+	7	1067	c.897delC	c.(895-897)ttfs	p.F299fs		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	299										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CAGAGAAGTTCACCTTCCATC	0.602													2	4	---	---	---	---					-	49103374	C	-	49103374	7	5	498	1	0	1	0	1	0	0	0	0	2823	825	29	0	923	0	CCDC22	23	49103374	Frame_Shift_Del	DEL	C	TCGA-UF-A7JC-01A-21D-A34J-08	1657448	49103374	106167186	54	96792											
BTK	695	broad.mit.edu	37	chrX	100611872	100611873	+	Frame_Shift_Ins	INS	-	-	CACTA																															cctctccatttcccatacttINScactaccccaaattgtccag																										TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:100611872_100611873insCACTA	ENST00000308731.7	-	14	1411_1412	c.1248_1249insTAGTG	c.(1246-1251)gtagtafs	p.V417fs	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	417	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCCCATACTTCACTACCCCAA	0.441									Agammaglobulinemia, X-linked				115	79	---	---	---	---					CACTA	100611873	-	CACTA	100611872	7	5	498	1	0	1	1	0	0	0	0	0	1566	1792	62	0	754	0	BTK	23	100611872	Frame_Shift_Ins	INS	-	TCGA-UF-A7JC-01A-21D-A34J-08	51508498	100611872	54658688	55	96793											
VPS13D	55187	broad.mit.edu	37	chr1	12322007	12322007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctcgtgtatgaacacGtatacaaagcgagatcatgt	13	10	10	8	3	1	2	1	1	0	1	2	4	1	2	1	0	4	2	1	0	5	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:12322007G>A	ENST00000358136.3	+	13	1594	c.1464G>A	c.(1462-1464)acG>acA	p.T488T	VPS13D_ENST00000356315.4_Silent_p.T488T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	488					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTATGAACACGTATACAAAGC	0.423													45	131					0	0	0	0	A	12322007	G	A	12322007	2	1	499	1	0	0	0	0	0	0	0	1	17288	1132	40	1		1	VPS13D	1	12322007	Silent	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		12322007	236928614	1	96794											
EPHA2	1969	broad.mit.edu	37	chr1	16464515	16464515	+	Frame_Shift_Del	DEL	C	C	-																															gaggctccgagtagcgcacaCtggcctcacacggcccgcat																										TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:16464515delC	ENST00000358432.5	-	5	1299	c.1145delG	c.(1144-1146)atfs	p.S382fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	382	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTAGCGCACACTGGCCTCACA	0.662													13	21	---	---	---	---					-	16464515	C	-	16464515	7	5	499	1	0	1	0	1	0	0	0	0	5205	565	20	0	1837	0	EPHA2	1	16464515	Frame_Shift_Del	DEL	C	TCGA-UF-A7JD-01A-11D-A34J-08	4142508	16464515	232786106	2	96795											
ZFYVE9	9372	broad.mit.edu	37	chr1	52744251	52744251	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacttgtatttgttttaaAtgcaaatttgttgtcaatgg	10	18	7	6	0	1	0	1	0	0	0	1	0	1	0	1	1	1	4	1	1	5	7			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:52744251A>T	ENST00000287727.3	+	9	3006	c.2834A>T	c.(2833-2835)aAt>aTt	p.N945I	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N886I|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N945I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	945					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTGTTTTAAATGCAAATTTG	0.328													12	74					0	0	0	0	T	52744251	A	T	52744251	3	4	499	1	0	0	0	0	1	0	0	0	17766	101	4	5	2871	5	ZFYVE9	1	52744251	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	36279736	52744251	196506370	3	96796											
ZNF326	284695	broad.mit.edu	37	chr1	90472926	90472926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggaccttatgagtcttacGactccaggtcttctctgggt	6	15	10	10	1	3	1	0	1	3	0	5	3	4	2	2	3	1	0	2	3	2	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:90472926G>A	ENST00000340281.4	+	5	375	c.232G>A	c.(232-234)Gac>Aac	p.D78N	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	78	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGAGTCTTACGACTCCAGGTC	0.423													4	139					0	0	0	0	A	90472926	G	A	90472926	3	1	499	1	0	0	0	0	1	0	0	0	17941	1058	37	1	254	1	ZNF326	1	90472926	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	37728675	90472926	158777695	4	96797											
SORT1	6272	broad.mit.edu	37	chr1	109893592	109893592	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggatttcttcccatttTcccccaaaattcttggacac	8	16	5	12	0	2	0	0	0	2	0	4	2	4	2	3	2	0	0	3	2	2	7			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:109893592T>C	ENST00000256637.6	-	6	799	c.741A>G	c.(739-741)ggA>ggG	p.G247G	SORT1_ENST00000538502.1_Silent_p.G111G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	247					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	p.G247G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CTTCCCATTTTCCCCCAAAAT	0.418													7	232					0	0	0	0	C	109893592	T	C	109893592	2	2	499	1	0	0	0	0	0	0	0	1	15023	1770	62	5		5	SORT1	1	109893592	Silent	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	19420666	109893592	139357029	5	96798											
GSTM1	2944	broad.mit.edu	37	chr1	110231856	110231856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtggcaggtggggagaCagaagaggagaagattcgtg	11	6	21	3	1	0	5	0	0	0	5	1	7	0	5	0	6	0	1	0	6	2	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:110231856C>G	ENST00000309851.5	+	5	323	c.269C>G	c.(268-270)aCa>aGa	p.T90R	GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000349334.3_Missense_Mutation_p.T90R|GSTM1_ENST00000490021.2_3'UTR|GSTM1_ENST00000483399.2_Missense_Mutation_p.Q63E|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369819.2_Missense_Mutation_p.T90R|GSTM1_ENST00000369823.2_Missense_Mutation_p.T109R	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	90	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGTGGGGAGACAGAAGAGGAG	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				3	40					0	0	0	0	G	110231856	C	G	110231856	3	3	499	1	0	0	0	0	1	0	0	0	6887	478	17	4	287	4	GSTM1	1	110231856	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	338264	110231856	139018765	6	96799											
MOV10	4343	broad.mit.edu	37	chr1	113242564	113242564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggccctgctcatcatcgtgGggaacccccttctcctgggc	5	9	11	16	1	3	0	2	0	1	0	5	1	3	1	4	4	2	1	4	4	1	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:113242564G>A	ENST00000369644.1	+	20	3619	c.2590G>A	c.(2590-2592)Ggg>Agg	p.G864R	MOV10_ENST00000369645.1_Missense_Mutation_p.G920R|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.G920R|MOV10_ENST00000413052.2_Missense_Mutation_p.G920R			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	920					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATCATCGTGGGGAACCCCCT	0.597													25	132					0	0	0	0	A	113242564	G	A	113242564	3	1	499	1	0	0	0	0	1	0	0	0	9788	1232	43	4	2828	4	MOV10	1	113242564	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	3010708	113242564	136008057	7	96800											
PRUNE	58497	broad.mit.edu	37	chr1	150997141	150997141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctagaccatcgacccatCgagccgaaacactgccctcc	10	6	8	17	3	0	1	0	0	0	1	3	4	1	1	5	0	4	1	5	0	2	1	rs112180991	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:150997141C>T	ENST00000271620.3	+	4	546	c.390C>T	c.(388-390)atC>atT	p.I130I	PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	130						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			ATCGACCCATCGAGCCGAAAC	0.572											OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	122					0	0	0	0	T	150997141	C	T	150997141	2	4	499	1	0	0	0	0	0	0	0	1	12719	874	31	1		1	PRUNE	1	150997141	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	37754577	150997141	98253480	8	96801											
HRNR	388697	broad.mit.edu	37	chr1	152187986	152187986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccatgctgaccgtggctgGaagactgacctgagctagct	9	8	13	11	1	0	4	0	3	0	1	0	5	0	5	3	2	4	4	3	2	2	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:152187986G>A	ENST00000368801.2	-	3	6194	c.6119C>T	c.(6118-6120)tCc>tTc	p.S2040F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2040					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGTGGCTGGAAGACTGACC	0.587													91	651					0	0	0	0	A	152187986	G	A	152187986	3	1	499	1	0	0	0	0	1	0	0	0	7409	1174	41	2	2437	2	HRNR	1	152187986	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	1190845	152187986	97062635	9	96802											
C1orf112	55732	broad.mit.edu	37	chr1	169821028	169821028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaggtattttctgggAaccctttgctaatgtgactg	11	13	11	6	0	1	1	0	1	1	0	1	3	1	3	1	3	2	2	1	3	5	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:169821028A>G	ENST00000286031.6	+	23	3015	c.2315A>G	c.(2314-2316)gAa>gGa	p.E772G	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.E772G	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	772										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTTCTGGGAACCCTTTGCT	0.433													6	78					0	0	0	0	G	169821028	A	G	169821028	3	3	499	1	0	0	0	0	1	0	0	0	2004	246	9	5	2397	5	C1orf112	1	169821028	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	17633042	169821028	79429593	10	96803											
PAPPA2	60676	broad.mit.edu	37	chr1	176525491	176525491	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatcctaagaataagcctGgcgattttggctgggtgggc	10	10	14	7	1	0	2	0	0	0	2	1	3	1	2	2	4	1	1	2	4	4	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:176525491G>T	ENST00000367662.3	+	2	1197	c.33G>T	c.(31-33)ctG>ctT	p.L11L	PAPPA2_ENST00000367661.3_Silent_p.L11L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	11					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAATAAGCCTGGCGATTTTGG	0.507													32	138					9.65963e-10	1.07921e-09	1	0	T	176525491	G	T	176525491	2	4	499	1	0	0	0	0	0	0	0	1	11504	1335	47	4		4	PAPPA2	1	176525491	Silent	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	6704463	176525491	72725130	11	96804											
PRG4	10216	broad.mit.edu	37	chr1	186276229	186276229	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaccactcccaaggagcctAcacccaccactcccaaggag	12	3	6	20	0	0	0	0	0	0	0	2	2	2	2	7	2	2	0	7	2	3	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:186276229A>T	ENST00000445192.2	+	7	1423	c.1378A>T	c.(1378-1380)Aca>Tca	p.T460S	PRG4_ENST00000367485.4_Missense_Mutation_p.T367S|PRG4_ENST00000367486.3_Missense_Mutation_p.T417S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657													18	208					0	0	0	0	T	186276229	A	T	186276229	3	4	499	1	0	0	0	0	1	0	0	0	12561	391	14	5	1400	5	PRG4	1	186276229	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	9750738	186276229	62974392	12	96805											
PRG4	10216	broad.mit.edu	37	chr1	186276381	186276381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacCaccaaggagccttcacccac	12	3	7	19	0	1	0	1	0	0	0	1	2	1	2	7	2	3	1	7	2	2	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:186276381C>T	ENST00000445192.2	+	7	1575	c.1530C>T	c.(1528-1530)acC>acT	p.T510T	PRG4_ENST00000367485.4_Silent_p.T417T|PRG4_ENST00000367486.3_Silent_p.T467T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T469T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	510	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.637													11	205					0	0	0	0	T	186276381	C	T	186276381	2	4	499	1	0	0	0	0	0	0	0	1	12561	581	21	4		4	PRG4	1	186276381	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	152	186276381	62974240	13	96806											
CRB1	23418	broad.mit.edu	37	chr1	197404169	197404169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggaagtggacaacgaaaCaccttttgtgaccagcacaa	16	7	9	9	1	0	1	0	1	0	0	0	4	0	3	2	2	3	1	2	2	5	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:197404169C>A	ENST00000367397.1	+	5	2177	c.1319C>A	c.(1318-1320)aCa>aAa	p.T440K	CRB1_ENST00000367399.2_Missense_Mutation_p.T947K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.T1035K|CRB1_ENST00000367400.3_Missense_Mutation_p.T1059K|CRB1_ENST00000544212.1_Missense_Mutation_p.T540K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1059					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACAACGAAACACCTTTTGTG	0.458													15	126					2.61681e-11	3.00655e-11	1	0	A	197404169	C	A	197404169	3	1	499	1	0	0	0	0	1	0	0	0	3878	478	17	4	3210	4	CRB1	1	197404169	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	11127788	197404169	51846452	14	96807											
GPR37L1	9283	broad.mit.edu	37	chr1	202092323	202092323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaccctgctggcctgcagCcaaccaagcccttggtggcc	6	8	10	17	0	1	0	1	0	0	0	1	0	1	0	6	3	5	2	6	3	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:202092323C>G	ENST00000367282.4	+	1	338	c.232C>G	c.(232-234)Cca>Gca	p.P78A		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	78						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TGGCCTGCAGCCAACCAAGCC	0.662													4	35					0	0	0	0	G	202092323	C	G	202092323	3	3	499	1	0	0	0	0	1	0	0	0	6741	739	26	4	234	4	GPR37L1	1	202092323	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	4688154	202092323	47158298	15	96808											
TMEM81	388730	broad.mit.edu	37	chr1	205053173	205053173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgccaatgagaatggtGaaatggagcatcccacagat	13	9	10	9	0	0	3	0	2	0	2	2	5	2	4	3	2	2	1	3	2	3	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:205053173G>T	ENST00000367167.3	-	1	472	c.276C>A	c.(274-276)ttC>ttA	p.F92L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	92	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGAGAATGGTGAAATGGAGCA	0.507													16	60					5.03518e-11	5.74436e-11	1	0	T	205053173	G	T	205053173	3	4	499	1	0	0	0	0	1	0	0	0	16299	1281	45	2	495	2	TMEM81	1	205053173	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	2960850	205053173	44197448	16	96809											
PLXNA2	5362	broad.mit.edu	37	chr1	208218411	208218411	+	Splice_Site	SNP	C	C	A																															acagacgcagggctcactcaCcatgaccttgtgctgcccgg																										TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:208218411C>A	ENST00000367033.3	-	19	4397		c.e19+1			NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCTCACTCACCATGACCTTG	0.577													12	64					0.00010058	0.000104448	1	0	A	208218411	C	A	208218411	5	1	499	1	0	0	0	0	0	0	1	0	12192	521	18	4	2100	4	PLXNA2	1	208218411	Splice_Site	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	3165238	208218411	41032210	17	96810	1158	2									
PLXNA2	5362	broad.mit.edu	37	chr1	208218412	208218412	+	Splice_Site	SNP	C	C	A																															cagacgcagggctcactcacCatgaccttgtgctgcccggt																										TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:208218412C>A	ENST00000367033.3	-	19	4396	c.3639_splice	c.e19+1	p.M1213_splice		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1213	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTCACTCACCATGACCTTGT	0.572													13	65					0.000151284	0.000156102	1	0	A	208218412	C	A	208218412	5	1	499	1	0	0	0	0	0	0	1	0	12192	608	21	4	2101	4	PLXNA2	1	208218412	Splice_Site	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	1	208218412	41032209	18	96811	1158	2									
FLVCR1	28982	broad.mit.edu	37	chr1	213068366	213068366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgaagacacaacataaatAtaggaattacaaatgttgat	19	10	7	5	1	0	2	0	1	0	1	0	4	0	3	0	1	3	1	0	1	9	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:213068366A>G	ENST00000366971.4	+	9	1762	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	522					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CAACATAAATATAGGAATTAC	0.279													44	232					0	0	0	0	G	213068366	A	G	213068366	3	3	499	1	0	0	0	0	1	0	0	0	5990	449	16	5	1598	5	FLVCR1	1	213068366	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	4849954	213068366	36182255	19	96812											
ACBD3	64746	broad.mit.edu	37	chr1	226342369	226342369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtccattctccagggCttcttctgcagcttctggtt	3	18	9	11	0	4	0	0	0	4	0	6	0	5	0	2	3	2	4	2	3	0	7			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:226342369C>A	ENST00000366812.5	-	6	1123	c.1069G>T	c.(1069-1071)Gcc>Tcc	p.A357S	ACBD3_ENST00000464927.1_5'UTR|RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	357					steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTCTCCAGGGCTTCTTCTGCA	0.413													87	93					4.69036e-40	5.62843e-40	1	0	A	226342369	C	A	226342369	3	1	499	1	0	0	0	0	1	0	0	0	123	797	28	4	529	4	ACBD3	1	226342369	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	13274003	226342369	22908252	20	96813											
NUP133	55746	broad.mit.edu	37	chr1	229637795	229637795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataatgagcttctctttgCacaccagacaagcccatcca	14	9	5	13	0	1	2	0	1	1	1	3	2	2	2	3	0	3	2	3	0	3	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:229637795C>A	ENST00000261396.3	-	3	447	c.356G>T	c.(355-357)tGc>tTc	p.C119F	NUP133_ENST00000537506.1_Missense_Mutation_p.C103F|NUP133_ENST00000366679.1_Missense_Mutation_p.C119F|NUP133_ENST00000366678.3_Missense_Mutation_p.C119F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	119					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			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)				CTTCTCTTTGCACACCAGACA	0.398													100	110					1.62402e-62	1.96337e-62	1	0	A	229637795	C	A	229637795	3	1	499	1	0	0	0	0	1	0	0	0	10825	710	25	4	3210	4	NUP133	1	229637795	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	3295426	229637795	19612826	21	96814											
C1orf101	257044	broad.mit.edu	37	chr1	244715797	244715797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcctcaccacgtggtaGtcaattaatggcttcctggg	9	12	9	11	1	3	0	2	0	1	0	5	0	4	0	3	3	0	2	3	3	4	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:244715797G>A	ENST00000366534.4	+	9	764	c.710G>A	c.(709-711)aGt>aAt	p.S237N	C1orf101_ENST00000366531.3_Missense_Mutation_p.S86N|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.S237N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	237						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CCACGTGGTAGTCAATTAATG	0.403													25	213					0	0	0	0	A	244715797	G	A	244715797	3	1	499	1	0	0	0	0	1	0	0	0	1995	1029	36	4	744	4	C1orf101	1	244715797	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	15078002	244715797	4534824	22	96815											
APOB	338	broad.mit.edu	37	chr2	21233058	21233058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaataaacaaatgtagatCatggattgtttttactaaat	16	16	5	4	0	2	1	2	0	0	1	2	2	2	2	0	1	2	2	0	1	8	8			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:21233058C>T	ENST00000233242.1	-	26	6809	c.6682G>A	c.(6682-6684)Gat>Aat	p.D2228N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2228					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAATGTAGATCATGGATTGTT	0.279													7	98					0	0	0	0	T	21233058	C	T	21233058	3	4	499	1	0	0	0	0	1	0	0	0	787	826	29	2	7025	2	APOB	2	21233058	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08		21233058	221966315	23	96816											
APOB	338	broad.mit.edu	37	chr2	21234388	21234388	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagggctgtagctgtaaattAacagtttgcttataaaactt	13	15	8	5	0	0	0	0	0	0	0	0	0	0	0	0	1	4	6	0	1	8	8			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:21234388A>C	ENST00000233242.1	-	26	5479	c.5352T>G	c.(5350-5352)gtT>gtG	p.V1784V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1784					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTGTAAATTAACAGTTTGCT	0.393													27	145					0	0	0	0	C	21234388	A	C	21234388	2	2	499	1	0	0	0	0	0	0	0	1	787	349	13	5		5	APOB	2	21234388	Silent	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	1330	21234388	221964985	24	96817											
ALK	238	broad.mit.edu	37	chr2	29606678	29606678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtattccagggccactCgaaatgggttgtctggacgc	9	10	13	9	2	1	1	0	0	1	1	3	3	2	2	2	3	0	2	2	3	2	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:29606678C>A	ENST00000389048.3	-	5	2108	c.1202G>T	c.(1201-1203)cGa>cTa	p.R401L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	401	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R401Q(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)	CAGGGCCACTCGAAATGGGTT	0.488			"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				16	78					1.37285e-15	1.60002e-15	1	0	A	29606678	C	A	29606678	3	1	499	1	0	0	0	0	1	0	0	0	525	884	31	3	3760	3	ALK	2	29606678	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	8372290	29606678	213592695	25	96818											
USP34	9736	broad.mit.edu	37	chr2	61575227	61575227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatccagcattcgcattCgattatctactgatggcaat	12	12	7	10	2	1	1	0	1	1	0	4	2	2	1	1	1	3	4	1	1	4	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:61575227C>A	ENST00000398571.2	-	15	2139	c.2063G>T	c.(2062-2064)cGa>cTa	p.R688L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	688					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATTCGCATTCGATTATCTAC	0.458													5	144					1.23904e-05	1.31192e-05	1	0	A	61575227	C	A	61575227	3	1	499	1	0	0	0	0	1	0	0	0	17161	884	31	3	8841	3	USP34	2	61575227	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	31968549	61575227	181624146	26	96819											
KDM3A	55818	broad.mit.edu	37	chr2	86705091	86705091	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcactgggtgtgtccTcggtgtgggtttggagtatg	5	13	16	7	1	0	0	0	0	0	0	2	1	1	1	2	4	2	3	2	4	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:86705091T>A	ENST00000409556.1	+	14	2396	c.2031T>A	c.(2029-2031)ccT>ccA	p.P677P	KDM3A_ENST00000409064.1_Silent_p.P677P|KDM3A_ENST00000312912.5_Silent_p.P677P|KDM3A_ENST00000542128.1_Silent_p.P625P			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	677					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGGTGTGTCCTCGGTGTGGGT	0.507													5	144					0	0	0	0	A	86705091	T	A	86705091	2	1	499	1	0	0	0	0	0	0	0	1	8179	1538	54	5		5	KDM3A	2	86705091	Silent	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	25129864	86705091	156494282	27	96820											
FABP1	2168	broad.mit.edu	37	chr2	88425818	88425818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccattctgcacgatttcCgacacccccttgatatcctt	7	14	4	16	2	1	1	0	1	1	0	4	3	4	1	5	0	1	1	5	0	1	6			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:88425818C>T	ENST00000393750.3	-	2	148	c.117G>A	c.(115-117)tcG>tcA	p.S39S	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.S39S			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	39					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GCACGATTTCCGACACCCCCT	0.527													49	219					0	0	0	0	T	88425818	C	T	88425818	2	4	499	1	0	0	0	0	0	0	0	1	5396	639	23	1		1	FABP1	2	88425818	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	1720727	88425818	154773555	28	96821											
TTN	7273	broad.mit.edu	37	chr2	179432224	179432224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggacatcagcctcaagtCtgaatgtttctccagcattt	10	13	7	11	0	4	1	2	1	2	0	5	2	4	2	2	1	2	2	2	1	2	2	rs11685237		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:179432224C>A	ENST00000589042.1	-	326	78859	c.78635G>T	c.(78634-78636)aGa>aTa	p.R26212I	TTN_ENST00000591111.1_Missense_Mutation_p.R24571I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17147I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23644I|TTN_ENST00000342175.6_Missense_Mutation_p.R17339I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17272I|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24571	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTCAAGTCTGAATGTTTC	0.408													51	46					1.61004e-24	1.90384e-24	1	0	A	179432224	C	A	179432224	3	1	499	1	0	0	0	0	1	0	0	0	16831	913	32	2	29492	2	TTN	2	179432224	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	91006406	179432224	63767149	29	96822											
FSIP2	401024	broad.mit.edu	37	chr2	186678685	186678685	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagacacatgttaaaagAgctgttgctgagcttgacat	14	10	11	6	0	0	4	0	2	0	2	0	5	0	4	0	1	3	5	0	1	3	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:186678685A>G	ENST00000343098.5	+	18	20508	c.20508A>G	c.(20506-20508)agA>agG	p.R6836R	FSIP2_ENST00000424728.1_Silent_p.R6747R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATGTTAAAAGAGCTGTTGCTG	0.433													41	64					0	0	0	0	G	186678685	A	G	186678685	2	3	499	1	0	0	0	0	0	0	0	1	6123	301	11	5		5	FSIP2	2	186678685	Silent	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	7246461	186678685	56520688	30	96823											
WNT6	7475	broad.mit.edu	37	chr2	219736219	219736219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacagacattcgggagaCggccttcgtgttcgccatca	9	10	10	12	4	2	2	2	0	0	2	5	3	2	2	2	2	0	1	2	2	0	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:219736219C>T	ENST00000233948.3	+	3	531	c.314C>T	c.(313-315)aCg>aTg	p.T105M	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	105					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTCGGGAGACGGCCTTCGTG	0.701													17	56					0	0	0	0	T	219736219	C	T	219736219	3	4	499	1	0	0	0	0	1	0	0	0	17489	536	19	1	324	1	WNT6	2	219736219	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	33057534	219736219	23463154	31	96824											
KCNJ13	3769	broad.mit.edu	37	chr2	233635903	233635903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcagaaaagaccaacAtcatccaacgccagcgcatg	18	3	8	12	2	1	3	1	0	0	3	2	3	2	3	3	0	4	2	3	0	6	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:233635903A>G	ENST00000233826.3	-	2	309	c.170T>C	c.(169-171)aTg>aCg	p.M57T	GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.M57T|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.M57T|GIGYF2_ENST00000409480.1_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	57						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		AAAGACCAACATCATCCAACG	0.473													15	38					0	0	0	0	G	233635903	A	G	233635903	3	3	499	1	0	0	0	0	1	0	0	0	8100	217	8	5	920	5	KCNJ13	2	233635903	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	13899684	233635903	9563470	32	96825											
POLQ	10721	broad.mit.edu	37	chr3	121228991	121228991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagactcttgatttctctGaattccttgcttcccttctt	7	18	4	12	0	3	3	0	2	3	1	6	3	5	3	2	0	2	1	2	0	2	7			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr3:121228991G>C	ENST00000264233.5	-	11	1839	c.1711C>G	c.(1711-1713)Cag>Gag	p.Q571E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	571					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGATTTCTCTGAATTCCTTGC	0.433								DNA polymerases (catalytic subunits)					5	170					0	0	0	0	C	121228991	G	C	121228991	3	2	499	1	0	0	0	0	1	0	0	0	12280	1299	45	2	6141	2	POLQ	3	121228991	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		121228991	76793439	33	96826											
NAALADL2	254827	broad.mit.edu	37	chr3	174951994	174951994	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaaaggaactctcaaGgtaatatgaccatttgtctc	12	12	7	10	0	3	1	1	1	3	0	5	2	3	2	2	2	2	1	2	2	5	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr3:174951994G>C	ENST00000454872.1	+	3	947	c.819_splice	c.e3+1	p.K273_splice	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	273					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAACTCTCAAGGTAATATGAC	0.388													9	75					0	0	0	0	C	174951994	G	C	174951994	5	2	499	1	0	0	0	0	0	0	1	0	10200	1014	35	4	829	4	NAALADL2	3	174951994	Splice_Site	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	53723003	174951994	23070436	34	96827											
LETM1	3954	broad.mit.edu	37	chr4	1834493	1834493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtctgcctttatggagCgcagccgcatggtaagctgg	6	11	14	10	3	1	0	0	0	1	0	2	1	1	1	2	3	4	4	2	3	2	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:1834493C>T	ENST00000302787.2	-	6	1354	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	353	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTTTATGGAGCGCAGCCGCAT	0.567													14	57					0	0	0	0	T	1834493	C	T	1834493	3	4	499	1	0	0	0	0	1	0	0	0	8787	768	27	1	1197	1	LETM1	4	1834493	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08		1834493	189319783	35	96828											
MFSD10	10227	broad.mit.edu	37	chr4	2933350	2933350	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccctggatggtggccaTggtgaggccgatgaggaaaa	10	6	17	8	1	0	2	0	2	0	0	0	5	0	4	3	7	0	1	3	7	2	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:2933350T>A	ENST00000329687.4	-	8	1489	c.955A>T	c.(955-957)Atg>Ttg	p.M319L	MFSD10_ENST00000514800.1_Missense_Mutation_p.M319L|MFSD10_ENST00000508221.1_Missense_Mutation_p.M319L|MFSD10_ENST00000355443.4_Missense_Mutation_p.M319L|MFSD10_ENST00000507555.1_Intron	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	319					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGGTGGCCATGGTGAGGCCG	0.682													10	22					0	0	0	0	A	2933350	T	A	2933350	3	1	499	1	0	0	0	0	1	0	0	0	9597	1464	51	5	432	5	MFSD10	4	2933350	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	1098857	2933350	188220926	36	96829											
DRD5	1816	broad.mit.edu	37	chr4	9784102	9784102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcccttccgctacaagcGcaagatgactcagcgcatgg	10	6	11	14	3	1	2	1	1	0	1	2	2	2	2	2	2	3	3	2	2	3	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:9784102G>T	ENST00000304374.2	+	1	845	c.449G>T	c.(448-450)cGc>cTc	p.R150L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	150					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCTACAAGCGCAAGATGACT	0.597													10	19					2.17888e-05	2.29207e-05	1	0	T	9784102	G	T	9784102	3	4	499	1	0	0	0	0	1	0	0	0	4796	1087	38	3	451	3	DRD5	4	9784102	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	6850752	9784102	181370174	37	96830											
KDR	3791	broad.mit.edu	37	chr4	55964379	55964379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcacaatgttcatccaatgGgagttcatctggatccatga	11	13	8	9	0	4	1	3	1	1	0	6	3	6	3	2	2	0	2	2	2	2	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:55964379G>A	ENST00000263923.4	-	17	2729	c.2434C>T	c.(2434-2436)Cca>Tca	p.P812S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	812					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCATCCAATGGGAGTTCATCT	0.458			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			14	68					0	0	0	0	A	55964379	G	A	55964379	3	1	499	1	0	0	0	0	1	0	0	0	8191	1232	43	4	1692	4	KDR	4	55964379	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	46180277	55964379	135189897	38	96831											
EPHA5	2044	broad.mit.edu	37	chr4	66356365	66356365	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtgtcagcaggcggaaTccattccagaaagacactag	14	6	10	11	1	1	2	1	0	0	2	3	3	3	3	3	2	1	1	3	2	3	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:66356365T>G	ENST00000273854.3	-	5	1732	c.1132A>C	c.(1132-1134)Att>Ctt	p.I378L	EPHA5_ENST00000354839.4_Missense_Mutation_p.I378L|EPHA5_ENST00000511294.1_Missense_Mutation_p.I378L|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	378	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCAGGCGGAATCCATTCCAGA	0.448										TSP Lung(17;0.13)			11	39					0	0	0	0	G	66356365	T	G	66356365	3	3	499	1	0	0	0	0	1	0	0	0	5208	1435	50	5	2037	5	EPHA5	4	66356365	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	10391986	66356365	124797911	39	96832											
PRDM9	56979	broad.mit.edu	37	chr5	23521230	23521230	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctcagagcaggctcagaaAccagtgtccccttctggaga	10	7	12	12	0	3	3	2	0	1	3	4	4	4	3	3	3	2	3	3	3	1	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:23521230A>T	ENST00000296682.3	+	6	632	c.450A>T	c.(448-450)aaA>aaT	p.K150N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	150					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGCTCAGAAACCAGTGTCCC	0.443										HNSCC(3;0.000094)			20	62					0	0	0	0	T	23521230	A	T	23521230	3	4	499	1	0	0	0	0	1	0	0	0	12543	40	2	5	468	5	PRDM9	5	23521230	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08		23521230	157394030	40	96833											
C9	735	broad.mit.edu	37	chr5	39311245	39311245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctaggcatacctttccGcttcatggaagctttatcca	9	15	6	11	1	2	0	1	0	1	0	4	1	4	1	3	2	2	3	3	2	4	7	rs149784324		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:39311245G>A	ENST00000263408.4	-	7	1200	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	369	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATACCTTTCCGCTTCATGGAA	0.368													42	71					0	0	0	0	A	39311245	G	A	39311245	3	1	499	1	0	0	0	0	1	0	0	0	2468	1086	38	1	594	1	C9	5	39311245	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	15790015	39311245	141604015	41	96834											
AGGF1	55109	broad.mit.edu	37	chr5	76335360	76335360	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttgactttcaaaggaaaAtcaactctattatgatcctt	13	16	4	8	0	4	2	2	2	2	0	5	3	5	3	1	1	1	0	1	1	6	6			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:76335360A>G	ENST00000312916.7	+	5	1068	c.686A>G	c.(685-687)aAt>aGt	p.N229S		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	229					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TCAAAGGAAAATCAACTCTAT	0.294													11	51					0	0	0	0	G	76335360	A	G	76335360	3	3	499	1	0	0	0	0	1	0	0	0	382	101	4	5	704	5	AGGF1	5	76335360	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	37024115	76335360	104579900	42	96835											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802964	140802964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcgctggcataagtcaCgcctgctgcaggcttctgaa	7	10	13	11	2	2	1	1	1	1	0	2	1	2	1	1	3	2	5	1	3	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:140802964C>T	ENST00000398587.2	+	1	2203	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATAAGTCACGCCTGCTGCA	0.592													13	60					0	0	0	0	T	140802964	C	T	140802964	3	4	499	1	0	0	0	0	1	0	0	0	11623	536	19	1	2172	1	PCDHGA11	5	140802964	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	64467604	140802964	40112296	43	96836											
LARP1	23367	broad.mit.edu	37	chr5	154179150	154179150	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccttctcctccccttcaGgccctaaaggacagcaaggt	8	10	7	16	0	2	0	1	0	1	0	5	1	4	1	5	3	1	1	5	3	3	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:154179150G>T	ENST00000336314.4	+	9	1170		c.e9-1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1								protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCCCTTCAGGCCCTAAAGG	0.483													16	82					5.01169e-05	5.23803e-05	1	0	T	154179150	G	T	154179150	5	4	499	1	0	0	0	0	0	0	1	0	8681	1014	35	4	1180	4	LARP1	5	154179150	Splice_Site	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	13376186	154179150	26736110	44	96837											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26123867	26123867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatctccctggaggtgatgGtcgagcgcttgttgtaatgc	6	12	15	8	2	1	1	0	1	1	0	3	4	1	3	1	4	2	3	1	4	1	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:26123867G>C	ENST00000314332.5	-	1	271	c.266C>G	c.(265-267)aCc>aGc	p.T89S	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.T89S			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	89					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GGAGGTGATGGTCGAGCGCTT	0.607													103	136					0	0	0	0	C	26123867	G	C	26123867	3	2	499	1	0	0	0	0	1	0	0	0	7192	1261	44	4	118	4	HIST1H2BC	6	26123867	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		26123867	144991200	45	96838											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271503	26271503	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacggtagcgatgaggtttcTtcacgccgccggtggccggc	5	8	16	12	6	2	1	1	1	1	0	2	3	2	1	3	5	1	2	3	5	1	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:26271503T>A	ENST00000305910.3	-	1	109	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						ATGAGGTTTCTTCACGCCGCC	0.642													28	97					0	0	0	0	A	26271503	T	A	26271503	3	1	499	1	0	0	0	0	1	0	0	0	7211	1609	56	5	304	5	HIST1H3G	6	26271503	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	147636	26271503	144843564	46	96839											
FGD2	221472	broad.mit.edu	37	chr6	36982441	36982441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctggacatgatcttCtcagctgcccagcactccaa	10	8	8	15	0	2	1	1	1	2	0	4	3	3	2	3	1	4	2	3	1	2	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:36982441C>A	ENST00000274963.8	+	7	1014	c.843C>A	c.(841-843)ttC>ttA	p.F281L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	281	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACATGATCTTCTCAGCTGCCC	0.597													23	54					1.66031e-10	1.86784e-10	1	0	A	36982441	C	A	36982441	3	1	499	1	0	0	0	0	1	0	0	0	5878	912	32	2	869	2	FGD2	6	36982441	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	10710938	36982441	134132626	47	96840											
EPHA7	2045	broad.mit.edu	37	chr6	93974414	93974414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattctgttcactggagacaGctgtagctgtaaacagagga	12	10	12	7	0	2	2	1	0	1	2	2	5	2	3	0	2	3	5	0	2	3	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:93974414G>A	ENST00000369303.4	-	8	1824	c.1640C>T	c.(1639-1641)gCt>gTt	p.A547V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	547						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTGGAGACAGCTGTAGCTGT	0.378													8	68					0	0	0	0	A	93974414	G	A	93974414	3	1	499	1	0	0	0	0	1	0	0	0	5210	971	34	4	1396	4	EPHA7	6	93974414	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	56991973	93974414	77140653	48	96841											
RNF216	54476	broad.mit.edu	37	chr7	5769095	5769095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatagtgtcctttgagctCgtgcagggcccacttgatgt	6	13	12	10	1	0	2	0	2	0	0	2	2	1	2	2	1	3	3	2	1	1	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:5769095C>T	ENST00000425013.2	-	7	1410	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	RNF216_ENST00000389902.3_Missense_Mutation_p.E453K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	396					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.E453*(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)		CCTTTGAGCTCGTGCAGGGCC	0.512													16	122					0	0	0	0	T	5769095	C	T	5769095	3	4	499	1	0	0	0	0	1	0	0	0	13565	893	31	1	1458	1	RNF216	7	5769095	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08		5769095	153369568	49	96842											
TRIM56	81844	broad.mit.edu	37	chr7	100732424	100732424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagcgtggcgggccacGtggaggtgtacaatatggaa	9	8	16	8	3	1	0	1	0	0	0	1	2	1	2	1	5	2	1	1	5	4	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:100732424G>A	ENST00000306085.6	+	3	2128	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	611					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCGGGCCACGTGGAGGTGTA	0.701													26	91					0	0	0	0	A	100732424	G	A	100732424	3	1	499	1	0	0	0	0	1	0	0	0	16625	1145	40	1	1833	1	TRIM56	7	100732424	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	94963329	100732424	58406239	50	96843											
KCND2	3751	broad.mit.edu	37	chr7	119914694	119914694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaagtaatcatggcggCgggggtggcagcgtggctgc	6	8	18	9	3	2	0	2	0	0	0	2	0	2	0	0	6	2	4	0	6	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:119914694C>T	ENST00000331113.4	+	1	973	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	3	Interaction with KCNIP2.				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ATCATGGCGGCGGGGGTGGCA	0.607													73	220					0	0	0	0	T	119914694	C	T	119914694	3	4	499	1	0	0	0	0	1	0	0	0	8072	768	27	1	10	1	KCND2	7	119914694	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	19182270	119914694	39223969	51	96844											
ZNF800	168850	broad.mit.edu	37	chr7	127013761	127013761	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagataacgagatgacttTttatgaaccacagttatatg	15	12	7	7	1	0	4	0	2	0	2	0	5	0	4	2	0	2	1	2	0	6	6			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:127013761T>C	ENST00000393313.1	-	5	2220	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K	ZNF800_ENST00000393312.1_Silent_p.K543K|ZNF800_ENST00000265827.3_Silent_p.K543K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						GAGATGACTTTTTATGAACCA	0.343													21	135					0	0	0	0	C	127013761	T	C	127013761	2	2	499	1	0	0	0	0	0	0	0	1	18262	1838	64	5		5	ZNF800	7	127013761	Silent	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	7099067	127013761	32124902	52	96845											
SSPO	23145	broad.mit.edu	37	chr7	149514780	149514780	+	RNA	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgaccctggtcagcccctCgggcctggagatgagctgga	6	7	16	12	1	1	3	1	2	0	1	2	5	1	4	4	5	2	1	4	5	0	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:149514780C>G	ENST00000378016.2	+	0	11322							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCAGCCCCTCGGGCCTGGAG	0.652													4	15					0	0	0	0	G	149514780	C	G	149514780	1	3	499	0	1	0	0	0	0	0	0	0	15279	871	31	3		3	SSPO	7	149514780	RNA	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	22501019	149514780	9623883	53	96846											
BMP1	649	broad.mit.edu	37	chr8	22066962	22066962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgtcccctacagagtgCgggggccaggtacgggcaga	7	7	15	12	2	1	2	0	0	1	2	2	2	2	2	3	4	3	2	3	4	2	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:22066962C>T	ENST00000306385.5	+	19	3250	c.2580C>T	c.(2578-2580)tgC>tgT	p.C860C	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	860	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTACAGAGTGCGGGGGCCAGG	0.637													4	101					0	0	0	0	T	22066962	C	T	22066962	2	4	499	1	0	0	0	0	0	0	0	1	1461	776	27	1		1	BMP1	8	22066962	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08		22066962	124297060	54	96847											
UNC5D	137970	broad.mit.edu	37	chr8	35647965	35647965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcatgatggtgatcttGactccctggcctgtgccctt	6	13	10	12	0	2	3	1	3	1	0	3	3	3	3	3	2	2	1	3	2	0	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:35647965G>A	ENST00000287272.2	+	16	2559	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	UNC5D_ENST00000453357.2_Missense_Mutation_p.D911N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D849N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D916N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D921N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D492N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	916					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGTGATCTTGACTCCCTGGC	0.468													5	88					0	0	0	0	A	35647965	G	A	35647965	3	1	499	1	0	0	0	0	1	0	0	0	17091	1290	45	2	2812	2	UNC5D	8	35647965	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	13581003	35647965	110716057	55	96848											
CHRNB3	1142	broad.mit.edu	37	chr8	42585743	42585743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttcatgcaggaatggAcagaccacaagttacgctgg	13	9	10	9	1	1	1	1	0	0	1	1	3	1	3	1	3	2	3	1	3	4	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:42585743A>G	ENST00000289957.2	+	4	384	c.256A>G	c.(256-258)Aca>Gca	p.T86A		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	86					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCAGGAATGGACAGACCACAA	0.388													12	34					0	0	0	0	G	42585743	A	G	42585743	3	3	499	1	0	0	0	0	1	0	0	0	3421	275	10	5	270	5	CHRNB3	8	42585743	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	6937778	42585743	103778279	56	96849											
KCNB2	9312	broad.mit.edu	37	chr8	73480359	73480359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattactgggggattgatgaGatctacttggagtcctgctg	8	13	14	6	0	1	2	0	2	1	1	2	6	2	4	1	3	3	1	1	3	2	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:73480359G>T	ENST00000523207.1	+	2	978	c.390G>T	c.(388-390)gaG>gaT	p.E130D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	130					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGATTGATGAGATCTACTTGG	0.448													67	72					9.5628e-27	1.1391e-26	1	0	T	73480359	G	T	73480359	3	4	499	1	0	0	0	0	1	0	0	0	8066	933	33	2	392	2	KCNB2	8	73480359	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	30894616	73480359	72883663	57	96850											
KCNS2	3788	broad.mit.edu	37	chr8	99441164	99441164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actggcctccgctccctgggGgccactttgaaatacagcta	8	9	10	14	1	0	1	0	1	0	0	2	1	2	1	4	3	2	2	4	3	3	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:99441164G>A	ENST00000287042.4	+	2	1307	c.957G>A	c.(955-957)ggG>ggA	p.G319G	KCNS2_ENST00000521839.1_Silent_p.G319G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	319						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCTCCCTGGGGGCCACTTTGA	0.567													40	40					0	0	0	0	A	99441164	G	A	99441164	2	1	499	1	0	0	0	0	0	0	0	1	8142	1219	43	4		4	KCNS2	8	99441164	Silent	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	25960805	99441164	46922858	58	96851											
YWHAZ	7534	broad.mit.edu	37	chr8	101936267	101936267	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatcaagttcagcaatggcTtcatcaaaagcctacgattt	13	12	7	9	1	4	0	4	0	0	0	4	1	4	0	1	1	3	4	1	1	6	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:101936267T>C	ENST00000395957.2	-	6	935	c.594A>G	c.(592-594)gaA>gaG	p.E198E	YWHAZ_ENST00000353245.3_Silent_p.E198E|YWHAZ_ENST00000395948.2_Silent_p.E121E|YWHAZ_ENST00000395958.2_Silent_p.E198E|YWHAZ_ENST00000457309.1_Silent_p.E198E|YWHAZ_ENST00000521309.1_Silent_p.E78E|YWHAZ_ENST00000395953.2_Silent_p.E198E|YWHAZ_ENST00000419477.2_Silent_p.E198E|YWHAZ_ENST00000395951.3_Silent_p.E198E|YWHAZ_ENST00000395956.3_Silent_p.E198E|YWHAZ_ENST00000522819.1_Silent_p.E78E|YWHAZ_ENST00000522542.1_Silent_p.E123E			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	198					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	CAGCAATGGCTTCATCAAAAG	0.333													28	181					0	0	0	0	C	101936267	T	C	101936267	2	2	499	1	0	0	0	0	0	0	0	1	17602	1606	56	5		5	YWHAZ	8	101936267	Silent	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	2495103	101936267	44427755	59	96852											
OXR1	55074	broad.mit.edu	37	chr8	107719171	107719171	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccttgtggggaaacagcAgaatttaaacaaaagcaaag	18	7	10	6	0	0	1	0	0	0	1	0	2	0	2	1	2	5	2	1	2	7	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:107719171A>G	ENST00000445937.1	+	9	1683	c.1422A>G	c.(1420-1422)gcA>gcG	p.A474A	OXR1_ENST00000442977.2_Silent_p.A475A|OXR1_ENST00000517566.2_Silent_p.A474A|OXR1_ENST00000312046.6_Silent_p.A467A|OXR1_ENST00000531443.1_Silent_p.A474A|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Silent_p.A407A	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	475					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GGGAAACAGCAGAATTTAAAC	0.373													10	44					0	0	0	0	G	107719171	A	G	107719171	2	3	499	1	0	0	0	0	0	0	0	1	11405	175	7	5		5	OXR1	8	107719171	Silent	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	5782904	107719171	38644851	60	96853											
TSTD2	158427	broad.mit.edu	37	chr9	100380037	100380037	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatataggagaaggtgttAccttgcctgtgaggtgcagg	10	10	16	5	0	0	2	0	1	0	1	0	4	0	3	2	5	3	2	2	5	5	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:100380037A>G	ENST00000341170.4	-	4	986		c.e4+1		TSTD2_ENST00000375163.1_Splice_Site|TSTD2_ENST00000354801.2_Splice_Site|TSTD2_ENST00000484708.1_Splice_Site|TSTD2_ENST00000375172.2_Splice_Site|TSTD2_ENST00000375165.1_Splice_Site	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2											large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGAAGGTGTTACCTTGCCTGT	0.488													3	48					0	0	0	0	G	100380037	A	G	100380037	5	3	499	1	0	0	0	0	0	0	1	0	16771	405	14	5	973	5	TSTD2	9	100380037	Splice_Site	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08		100380037	40833394	61	96854											
ABCA1	19	broad.mit.edu	37	chr9	107584853	107584853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaattcagtgccaggcCatcgacagccaccttcatcc	13	8	6	14	1	2	0	2	0	0	0	4	1	3	0	5	1	2	0	5	1	3	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:107584853C>T	ENST00000374736.3	-	19	3146	c.2752G>A	c.(2752-2754)Ggc>Agc	p.G918S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	918	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTGCCAGGCCATCGACAGCC	0.557													20	101					0	0	0	0	T	107584853	C	T	107584853	3	4	499	1	0	0	0	0	1	0	0	0	28	594	21	4	4161	4	ABCA1	9	107584853	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	7204816	107584853	33628578	62	96855											
RGS3	5998	broad.mit.edu	37	chr9	116247956	116247957	+	Frame_Shift_Ins	INS	-	-	A																															tcttggttactgtgtggaacINSagggccagccagtccaggtg																										TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:116247956_116247957insA	ENST00000374140.2	+	8	881_882	c.672_673insA	c.(670-675)aagggcfs	p.KG224fs	RGS3_ENST00000350696.5_Frame_Shift_Ins_p.KG224fs|RGS3_ENST00000317613.6_Frame_Shift_Ins_p.KG112fs	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	224	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGTGTGGAACAGGGCCAGCCA	0.579													2	4	---	---	---	---					A	116247957	-	A	116247956	7	5	499	1	0	1	1	0	0	0	0	0	13389	477	17	0	781	0	RGS3	9	116247956	Frame_Shift_Ins	INS	-	TCGA-UF-A7JD-01A-11D-A34J-08	8663103	116247956	24965475	63	96856											
SH3GLB2	56904	broad.mit.edu	37	chr9	131772963	131772963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccttgtccacttcatCattccagagctgtggagacg	9	12	8	12	1	2	2	2	0	0	2	4	3	4	2	3	1	2	1	3	1	1	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:131772963C>A	ENST00000372564.3	-	7	779	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	SH3GLB2_ENST00000372559.1_Missense_Mutation_p.D212Y|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.D191Y|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.D212Y|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.D216Y	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	212	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TCCACTTCATCATTCCAGAGC	0.637													22	16					4.72057e-08	5.16711e-08	1	0	A	131772963	C	A	131772963	3	1	499	1	0	0	0	0	1	0	0	0	14342	826	29	2	573	2	SH3GLB2	9	131772963	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	15525007	131772963	9440468	64	96857											
EHMT1	79813	broad.mit.edu	37	chr9	140652378	140652378	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgctgagcagacggcAccaggagacagcacagggta	13	2	16	10	2	0	3	0	1	0	2	0	5	0	4	1	4	3	5	1	4	2	1	rs137852715		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:140652378A>G	ENST00000460843.1	+	9	1443	c.1416A>G	c.(1414-1416)gcA>gcG	p.A472A	EHMT1_ENST00000334856.6_Silent_p.A441A|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.A472A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	472					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGCAGACGGCACCAGGAGACA	0.542													63	71					0	0	0	0	G	140652378	A	G	140652378	2	3	499	1	0	0	0	0	0	0	0	1	5019	146	6	5		5	EHMT1	9	140652378	Silent	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	8879415	140652378	561053	65	96858											
NSUN6	221078	broad.mit.edu	37	chr10	18885219	18885219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcttctctccaggttgaGgatttagtacatgacttact	10	15	8	8	0	2	2	0	2	2	0	4	4	3	3	1	2	2	2	1	2	4	6			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:18885219G>C	ENST00000377304.4	-	7	1113	c.695C>G	c.(694-696)cCt>cGt	p.P232R		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	232							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCAGGTTGAGGATTTAGTAC	0.383													33	66					0	0	0	0	C	18885219	G	C	18885219	3	2	499	1	0	0	0	0	1	0	0	0	10753	1000	35	4	734	4	NSUN6	10	18885219	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		18885219	116649528	66	96859											
ANKRD30A	91074	broad.mit.edu	37	chr10	37442528	37442528	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagactgtttcacagaaggAtgtgtgtttacccaaggcta	11	12	11	7	0	1	2	1	1	0	2	1	4	1	3	1	2	1	3	1	2	4	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:37442528A>T	ENST00000374660.1	+	13	1667	c.1568A>T	c.(1567-1569)gAt>gTt	p.D523V	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D523V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D523V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	579						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCACAGAAGGATGTGTGTTTA	0.294													16	226					0	0	0	0	T	37442528	A	T	37442528	3	4	499	1	0	0	0	0	1	0	0	0	658	333	12	5	1618	5	ANKRD30A	10	37442528	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	18557309	37442528	98092219	67	96860											
NCOA4	8031	broad.mit.edu	37	chr10	51584858	51584858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcggaagcctgagaaTggcagtcgtgaaaccagtga	13	6	14	8	2	0	3	0	3	0	1	1	5	0	4	2	2	4	2	2	2	4	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:51584858T>A	ENST00000452682.1	+	9	1257	c.1005T>A	c.(1003-1005)aaT>aaA	p.N335K	NCOA4_ENST00000374082.1_Missense_Mutation_p.N319K|NCOA4_ENST00000344348.6_Missense_Mutation_p.N319K|NCOA4_ENST00000414907.2_Missense_Mutation_p.N153K|NCOA4_ENST00000443446.1_Missense_Mutation_p.N319K|NCOA4_ENST00000430396.2_Missense_Mutation_p.N219K|NCOA4_ENST00000374087.4_Missense_Mutation_p.N319K|NCOA4_ENST00000438493.1_Missense_Mutation_p.N335K	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	319					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGCCTGAGAATGGCAGTCGTG	0.458			T	RET	papillary thyroid								21	101					0	0	0	0	A	51584858	T	A	51584858	3	1	499	1	0	0	0	0	1	0	0	0	10301	1461	51	5	1035	5	NCOA4	10	51584858	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	14142330	51584858	83949889	68	96861											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105386929	105386929	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcagggacccagcccTgctcctcagaagtgctcacg	8	6	13	14	1	2	1	2	0	0	1	3	2	3	2	3	3	3	3	3	3	1	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:105386929T>A	ENST00000369774.4	-	9	911	c.635A>T	c.(634-636)cAg>cTg	p.Q212L	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q212L|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q47L|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.Q74L|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q79L			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	212	SH3 1.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GACCCAGCCCTGCTCCTCAGA	0.612													22	62					0	0	0	0	A	105386929	T	A	105386929	3	1	499	1	0	0	0	0	1	0	0	0	14344	1580	55	5	2706	5	SH3PXD2A	10	105386929	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	53802071	105386929	30147818	69	96862											
NSMCE4A	54780	broad.mit.edu	37	chr10	123722762	123722762	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttacacttacgatcttctcGaaaatatgtctgcaacaatc	13	13	5	10	2	3	0	0	0	3	0	5	2	3	0	0	0	4	2	0	0	7	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:123722762G>A	ENST00000538652.1	-	6	995	c.358C>T	c.(358-360)Cga>Tga	p.R120*	NSMCE4A_ENST00000369017.5_Nonsense_Mutation_p.R279*|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369023.3_Nonsense_Mutation_p.R279*			Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	279										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				CGATCTTCTCGAAAATATGTC	0.333													19	58					0	0	0	0	A	123722762	G	A	123722762	4	1	499	1	0	0	0	0	0	1	0	0	10748	1066	37	1	342	1	NSMCE4A	10	123722762	Nonsense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	18335833	123722762	11811985	70	96863											
OR5B12	390191	broad.mit.edu	37	chr11	58207450	58207450	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaggttactgaggaagaAgtacatgggggtgtggagac	12	7	19	3	0	0	4	0	1	0	3	0	7	0	5	0	6	2	2	0	6	4	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:58207450A>C	ENST00000302572.2	-	1	196	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGAGGAAGAAGTACATGGGG	0.463													11	69					0	0	0	0	C	58207450	A	C	58207450	3	2	499	1	0	0	0	0	1	0	0	0	11219	72	3	5	773	5	OR5B12	11	58207450	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08		58207450	76799066	71	96864											
SAC3D1	29901	broad.mit.edu	37	chr11	64812090	64812090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggctaccgcctgccaGtacgtgcaaggtgttagtgg	8	8	16	9	2	0	0	0	0	0	0	0	1	0	1	3	4	4	4	3	4	5	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:64812090G>A	ENST00000398846.1	+	2	1357	c.968G>A	c.(967-969)aGt>aAt	p.S323N	SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.S323N	NM_013299.3	NP_037431.3			SAC3 domain containing 1											endometrium(2)|lung(1)	3						CCGCCTGCCAGTACGTGCAAG	0.627													35	46					0	0	0	0	A	64812090	G	A	64812090	3	1	499	1	0	0	0	0	1	0	0	0	13887	1029	36	4	974	4	SAC3D1	11	64812090	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	6604640	64812090	70194426	72	96865											
PCNXL3	399909	broad.mit.edu	37	chr11	65403111	65403111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacgccaagcaggcgcttCgcaacatgatcaactcctcc	12	6	8	15	3	1	2	1	1	0	1	4	2	3	2	3	1	4	3	3	1	4	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:65403111C>T	ENST00000355703.3	+	32	5835	c.5296C>T	c.(5296-5298)Cgc>Tgc	p.R1766C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1766						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCAGGCGCTTCGCAACATGAT	0.677													5	37					0	0	0	0	T	65403111	C	T	65403111	3	4	499	1	0	0	0	0	1	0	0	0	11664	884	31	1	5422	1	PCNXL3	11	65403111	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	591021	65403111	69603405	73	96866											
PRKRIR	5612	broad.mit.edu	37	chr11	76063373	76063373	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaacacaggtaggtgcTcttcccctgctatgtccact	8	11	7	15	0	2	0	1	0	1	0	4	0	4	0	4	2	3	3	4	2	3	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:76063373T>A	ENST00000260045.3	-	5	926	c.821A>T	c.(820-822)gAg>gTg	p.E274V		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	274					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGGTAGGTGCTCTTCCCCTGC	0.438													42	57					0	0	0	0	A	76063373	T	A	76063373	3	1	499	1	0	0	0	0	1	0	0	0	12606	1551	54	5	1468	5	PRKRIR	11	76063373	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	10660262	76063373	58943143	74	96867											
FAT3	120114	broad.mit.edu	37	chr11	92600283	92600283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaggtggtgggcctgaCggagctgaagctgggctgcg	5	6	21	9	4	0	2	0	2	0	0	0	4	0	4	1	6	3	3	1	6	1	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:92600283C>T	ENST00000298047.6	+	21	12052	c.12035C>T	c.(12034-12036)aCg>aTg	p.T4012M	FAT3_ENST00000525166.1_Missense_Mutation_p.T3862M|FAT3_ENST00000533797.1_Missense_Mutation_p.T347M|FAT3_ENST00000409404.2_Missense_Mutation_p.T4012M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4012	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGCCTGACGGAGCTGAAG	0.657										TCGA Ovarian(4;0.039)			4	26					0	0	0	0	T	92600283	C	T	92600283	3	4	499	1	0	0	0	0	1	0	0	0	5736	536	19	1	12117	1	FAT3	11	92600283	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	16536910	92600283	42406233	75	96868											
GPR83	10888	broad.mit.edu	37	chr11	94134200	94134200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagccacaatgagcagggCtttcaccgtggggttctggg	8	9	15	9	1	2	1	1	1	1	0	2	1	2	1	2	4	2	4	2	4	2	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:94134200C>T	ENST00000243673.2	-	1	385	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	GPR83_ENST00000539203.2_Missense_Mutation_p.A72T	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	72						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGAGCAGGGCTTTCACCGTG	0.537													11	77					0	0	0	0	T	94134200	C	T	94134200	3	4	499	1	0	0	0	0	1	0	0	0	6762	797	28	4	1073	4	GPR83	11	94134200	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	1533917	94134200	40872316	76	96869											
TRPC6	7225	broad.mit.edu	37	chr11	101325759	101325759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgcttacctgatattgtCttggaggattattgaaacta	11	15	8	7	0	1	2	0	2	1	0	1	4	1	4	2	2	3	1	2	2	5	7			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:101325759C>G	ENST00000344327.3	-	11	2982	c.2558G>C	c.(2557-2559)aGa>aCa	p.R853T	TRPC6_ENST00000532133.1_Missense_Mutation_p.R775T|TRPC6_ENST00000360497.4_Missense_Mutation_p.R798T|TRPC6_ENST00000348423.4_Missense_Mutation_p.R737T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	853					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGATATTGTCTTGGAGGATT	0.299													52	336					0	0	0	0	G	101325759	C	G	101325759	3	3	499	1	0	0	0	0	1	0	0	0	16678	913	32	2	249	2	TRPC6	11	101325759	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	7191559	101325759	33680757	77	96870											
TRPC6	7225	broad.mit.edu	37	chr11	101325814	101325814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgagctccttatacttgGttgtttattgtgcccaacct	6	18	7	10	0	1	1	0	1	1	0	2	1	2	1	3	1	4	3	3	1	4	8			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:101325814G>T	ENST00000344327.3	-	11	2927	c.2503C>A	c.(2503-2505)Cca>Aca	p.P835T	TRPC6_ENST00000532133.1_Missense_Mutation_p.P757T|TRPC6_ENST00000360497.4_Missense_Mutation_p.P780T|TRPC6_ENST00000348423.4_Missense_Mutation_p.P719T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	835					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTATACTTGGTTGTTTATTG	0.294													11	395					0.000673444	0.000681862	1	0	T	101325814	G	T	101325814	3	4	499	1	0	0	0	0	1	0	0	0	16678	1261	44	4	304	4	TRPC6	11	101325814	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	55	101325814	33680702	78	96871											
BIRC2	329	broad.mit.edu	37	chr11	102220696	102220696	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggacaaacagcaacaaacaAaaaatgaagtatgacttttc	20	8	6	7	0	0	2	0	2	0	0	1	3	0	3	0	1	4	2	0	1	8	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:102220696A>C	ENST00000227758.2	+	2	1510	c.111A>C	c.(109-111)caA>caC	p.Q37H	BIRC2_ENST00000532672.1_Missense_Mutation_p.Q16H|BIRC2_ENST00000530675.1_Intron|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	37					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GCAACAAACAAAAAATGAAGT	0.438													1934	103					0	0	0	0	C	102220696	A	C	102220696	3	2	499	1	0	0	0	0	1	0	0	0	1440	11	1	5	113	5	BIRC2	11	102220696	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	894882	102220696	32785820	79	96872											
ZW10	9183	broad.mit.edu	37	chr11	113608317	113608317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggcagtaattttgccaaTgacctcagaaattgctgtat	12	13	9	7	0	1	2	1	1	0	1	1	2	1	2	2	1	2	4	2	1	5	6			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:113608317T>C	ENST00000200135.3	-	14	2137	c.1993A>G	c.(1993-1995)Att>Gtt	p.I665V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	665					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ATTTTGCCAATGACCTCAGAA	0.428													38	102					0	0	0	0	C	113608317	T	C	113608317	3	2	499	1	0	0	0	0	1	0	0	0	18338	1464	51	5	358	5	ZW10	11	113608317	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	11387621	113608317	21398199	80	96873											
PDZRN4	29951	broad.mit.edu	37	chr12	41966931	41966931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccacccagtcctcttccGgacagagcagtaaagagtcg	11	6	10	14	2	1	2	0	0	1	2	4	3	3	3	4	1	2	2	4	1	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:41966931G>A	ENST00000298919.7	+	10	1958	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	784							ubiquitin-protein ligase activity|zinc ion binding	p.G526R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTCCTCTTCCGGACAGAGCAG	0.512													30	114					0	0	0	0	A	41966931	G	A	41966931	3	1	499	1	0	0	0	0	1	0	0	0	11781	1117	39	1	2461	1	PDZRN4	12	41966931	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		41966931	91884964	81	96874											
GXYLT1	283464	broad.mit.edu	37	chr12	42491746	42491746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacgatattcaatagatcTtgatcaccccatgtgatgtt	13	13	6	9	1	3	3	2	2	1	1	3	4	3	3	2	0	1	1	2	0	4	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:42491746T>A	ENST00000398675.3	-	6	1186	c.954A>T	c.(952-954)caA>caT	p.Q318H	GXYLT1_ENST00000280876.6_Missense_Mutation_p.Q287H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	318					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TCAATAGATCTTGATCACCCC	0.284													23	143					0	0	0	0	A	42491746	T	A	42491746	3	1	499	1	0	0	0	0	1	0	0	0	6953	1606	56	5	380	5	GXYLT1	12	42491746	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	524815	42491746	91360149	82	96875											
MARS	4141	broad.mit.edu	37	chr12	57908984	57908984	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaatatagctgccttgctCtctgtcatgcttcagcctta	7	15	8	11	0	3	1	2	1	1	0	4	1	3	1	2	0	5	3	2	0	4	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:57908984C>G	ENST00000262027.5	+	18	2390	c.2256C>G	c.(2254-2256)ctC>ctG	p.L752L	MARS_ENST00000315473.5_Silent_p.L518L	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	752					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGCCTTGCTCTCTGTCATGC	0.547													10	79					0	0	0	0	G	57908984	C	G	57908984	2	3	499	1	0	0	0	0	0	0	0	1	9385	900	32	2		2	MARS	12	57908984	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	15417238	57908984	75942911	83	96876											
ARL1	400	broad.mit.edu	37	chr12	101790181	101790181	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcatgatacttgccattCcattgcctcatcaaggccgg	10	10	9	12	1	2	1	2	1	0	0	3	2	3	1	4	2	4	1	4	2	3	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:101790181C>A	ENST00000261636.8	-	5	685	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	ARL1_ENST00000539055.1_Nonsense_Mutation_p.E125*|ARL1_ENST00000551688.1_Nonsense_Mutation_p.E42*|ARL1_ENST00000551828.1_Nonsense_Mutation_p.E154*|ARL1_ENST00000551671.1_Nonsense_Mutation_p.E171*|ARL1_ENST00000536227.1_Nonsense_Mutation_p.E154*	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	171					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ACTTGCCATTCCATTGCCTCA	0.473													33	158					1.45844e-13	1.68762e-13	1	0	A	101790181	C	A	101790181	4	1	499	1	0	0	0	0	0	1	0	0	927	864	30	2	42	2	ARL1	12	101790181	Nonsense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	43881197	101790181	32061714	84	96877											
CMKLR1	1240	broad.mit.edu	37	chr12	108685630	108685630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaggatcaaagcatgccGgtctccctctcattcataga	11	10	9	11	1	4	2	3	1	2	1	6	3	4	3	2	2	2	1	2	2	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:108685630G>A	ENST00000312143.7	-	3	1473	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	CMKLR1_ENST00000552995.1_Silent_p.T368T|CMKLR1_ENST00000412676.1_Silent_p.T370T|CMKLR1_ENST00000550402.1_Silent_p.T370T|CMKLR1_ENST00000397688.2_Silent_p.T368T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	370					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAAGCATGCCGGTCTCCCTCT	0.473													47	84					0	0	0	0	A	108685630	G	A	108685630	2	1	499	1	0	0	0	0	0	0	0	1	3609	1103	39	1		1	CMKLR1	12	108685630	Silent	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	6895449	108685630	25166265	85	96878											
LRCH1	23143	broad.mit.edu	37	chr13	47266765	47266765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcgtgccatcgccttaGccccgttaaaggtctgagaa	9	9	11	12	3	1	1	0	1	1	1	3	3	1	2	4	2	2	1	4	2	4	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:47266765G>T	ENST00000311191.6	+	8	1338	c.1109G>T	c.(1108-1110)aGc>aTc	p.S370I	LRCH1_ENST00000389797.3_Missense_Mutation_p.S370I|LRCH1_ENST00000389798.3_Missense_Mutation_p.S370I	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	370										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CATCGCCTTAGCCCCGTTAAA	0.408													6	100					0.248553	0.248553	1	0	T	47266765	G	T	47266765	3	4	499	1	0	0	0	0	1	0	0	0	8996	971	34	4	1139	4	LRCH1	13	47266765	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		47266765	67903113	86	96879											
ITM2B	9445	broad.mit.edu	37	chr13	48832958	48832958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctatttgcctcagtcctAtctgattcatgagcacatgg	10	13	7	11	0	3	2	2	2	1	0	4	2	4	2	3	1	3	1	3	1	3	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:48832958A>G	ENST00000378565.5	+	5	793	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	ITM2B_ENST00000378549.5_Missense_Mutation_p.Y91C	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	197	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CCTCAGTCCTATCTGATTCAT	0.368													48	82					0	0	0	0	G	48832958	A	G	48832958	3	3	499	1	0	0	0	0	1	0	0	0	7966	449	16	5	608	5	ITM2B	13	48832958	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	1566193	48832958	66336920	87	96880											
RCBTB2	1102	broad.mit.edu	37	chr13	49084844	49084844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgcccataagaattggCgccccaagcatacacttggc	12	7	8	14	1	0	1	0	0	0	1	0	1	0	1	3	2	4	1	3	2	5	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:49084844C>T	ENST00000344532.3	-	10	1270	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A288T|RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000544904.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	283							Ran guanyl-nucleotide exchange factor activity	p.A283T(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TAAGAATTGGCGCCCCAAGCA	0.473													4	121					0	0	0	0	T	49084844	C	T	49084844	3	4	499	1	0	0	0	0	1	0	0	0	13254	768	27	1	832	1	RCBTB2	13	49084844	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	251886	49084844	66085034	88	96881											
DHRS4L2	317749	broad.mit.edu	37	chr14	24470637	24470637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagccttgctgggcctCaacaataccctggccataga	13	7	8	13	0	1	1	1	0	0	1	1	1	1	1	4	2	5	1	4	2	6	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:24470637C>A	ENST00000335125.6	+	6	702	c.576C>A	c.(574-576)ctC>ctA	p.L192L	DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000558753.1_Silent_p.L117L|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.L190L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Silent_p.L117L|DHRS4L2_ENST00000534993.1_Intron	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	130							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGCTGGGCCTCAACAATACCC	0.488													61	158					7.82978e-24	9.19148e-24	1	0	A	24470637	C	A	24470637	2	1	499	1	0	0	0	0	0	0	0	1	4531	813	29	2		2	DHRS4L2	14	24470637	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08		24470637	82878903	89	96882											
STRN3	29966	broad.mit.edu	37	chr14	31364645	31364645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactttggcaagagcatcaGctcctgcactagctatatat	12	12	7	10	0	1	1	1	0	0	1	2	1	2	1	1	1	5	5	1	1	6	6			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:31364645G>A	ENST00000355683.5	-	16	2329	c.2114C>T	c.(2113-2115)gCt>gTt	p.A705V	STRN3_ENST00000357479.5_Missense_Mutation_p.A789V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	789					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAGAGCATCAGCTCCTGCACT	0.388													12	66					0	0	0	0	A	31364645	G	A	31364645	3	1	499	1	0	0	0	0	1	0	0	0	15420	971	34	4	31	4	STRN3	14	31364645	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	6894008	31364645	75984895	90	96883											
SSTR1	6751	broad.mit.edu	37	chr14	38679209	38679209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaacagcgacggcacGgtggcttgcaacatgctcat	9	6	13	13	4	1	0	1	0	0	0	1	1	1	0	1	4	5	4	1	4	2	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:38679209G>A	ENST00000267377.2	+	3	1232	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	205					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCGACGGCACGGTGGCTTGCA	0.622													5	72					0	0	0	0	A	38679209	G	A	38679209	2	1	499	1	0	0	0	0	0	0	0	1	15287	1103	39	1		1	SSTR1	14	38679209	Silent	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	7314564	38679209	68670331	91	96884											
ADAM20	8748	broad.mit.edu	37	chr14	70989667	70989667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacctcaccaatatcaGgtatagccatccctaaatga	13	11	4	13	0	3	1	3	1	0	0	4	1	4	1	4	1	1	1	4	1	6	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:70989667G>A	ENST00000256389.3	-	2	2202	c.1958C>T	c.(1957-1959)cCt>cTt	p.P653L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	603	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P653H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACCAATATCAGGTATAGCCAT	0.458													56	158					0	0	0	0	A	70989667	G	A	70989667	3	1	499	1	0	0	0	0	1	0	0	0	242	1000	35	4	376	4	ADAM20	14	70989667	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	32310458	70989667	36359873	92	96885											
PCNX	22990	broad.mit.edu	37	chr14	71568843	71568843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtacttgccaactctccctCcttgcttgctctgcggcatg	5	13	8	15	1	2	0	0	0	2	0	4	0	3	0	3	1	6	4	3	1	2	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:71568843C>T	ENST00000304743.2	+	31	6172	c.5726C>T	c.(5725-5727)tCc>tTc	p.S1909F	PCNX_ENST00000439984.3_Missense_Mutation_p.S1798F|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.S1837F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1909						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AACTCTCCCTCCTTGCTTGCT	0.478													46	129					0	0	0	0	T	71568843	C	T	71568843	3	4	499	1	0	0	0	0	1	0	0	0	11662	855	30	2	5848	2	PCNX	14	71568843	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	579176	71568843	35780697	93	96886											
NEK9	91754	broad.mit.edu	37	chr14	75553754	75553754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaatttcttgttcaacttCtgcagttgggtaaaaatctg	10	17	7	7	0	5	0	1	0	4	0	5	0	5	0	0	1	2	4	0	1	5	7			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:75553754C>T	ENST00000238616.5	-	21	2942	c.2784G>A	c.(2782-2784)caG>caA	p.Q928Q		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	928					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGTTCAACTTCTGCAGTTGGG	0.413													62	173					0	0	0	0	T	75553754	C	T	75553754	2	4	499	1	0	0	0	0	0	0	0	1	10401	912	32	2		2	NEK9	14	75553754	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	3984911	75553754	31795786	94	96887											
BDKRB2	624	broad.mit.edu	37	chr14	96706960	96706960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatctacctggggaacCtggccgcagcagacctgatc	10	6	12	13	1	1	3	0	1	1	2	2	5	1	4	4	3	3	2	4	3	2	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:96706960C>T	ENST00000542454.2	+	3	3302	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	BDKRB2_ENST00000539359.1_Silent_p.L72L|BDKRB2_ENST00000554311.1_Silent_p.L99L|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.L99L			P30411	BKRB2_HUMAN	bradykinin receptor B2	99					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCTGGGGAACCTGGCCGCAGC	0.612													23	181					0	0	0	0	T	96706960	C	T	96706960	2	4	499	1	0	0	0	0	0	0	0	1	1397	680	24	4		4	BDKRB2	14	96706960	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	21153206	96706960	10642580	95	96888											
AHNAK2	113146	broad.mit.edu	37	chr14	105413127	105413127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttgaggccggctccctcGggaacgtggccctctgggag	4	8	15	14	3	1	1	0	1	1	0	3	3	2	3	4	5	1	1	4	5	1	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:105413127G>A	ENST00000333244.5	-	7	8780	c.8661C>T	c.(8659-8661)ccC>ccT	p.P2887P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2887						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGCTCCCTCGGGAACGTGGC	0.622													12	489					0	0	0	0	A	105413127	G	A	105413127	2	1	499	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105413127	Silent	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	8706167	105413127	1936413	96	96889											
RYR3	6263	broad.mit.edu	37	chr15	34118906	34118906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatgacgagttcacgcGtgatctctttagattcctac	10	12	8	11	3	2	4	1	2	1	2	4	5	3	4	2	0	1	1	2	0	3	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr15:34118906G>A	ENST00000389232.4	+	84	11268	c.11198G>A	c.(11197-11199)cGt>cAt	p.R3733H	RYR3_ENST00000415757.3_Missense_Mutation_p.R3728H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3733					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGTTCACGCGTGATCTCTTT	0.423													53	156					0	0	0	0	A	34118906	G	A	34118906	3	1	499	1	0	0	0	0	1	0	0	0	13855	1145	40	1	11532	1	RYR3	15	34118906	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		34118906	68412486	97	96890											
MYO5A	4644	broad.mit.edu	37	chr15	52689527	52689527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcatcgcgggcatttGtggcctgcagcttggagatg	8	9	14	10	2	0	1	0	0	0	1	1	2	0	1	2	3	3	4	2	3	1	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr15:52689527G>T	ENST00000399231.3	-	10	1433	c.1190C>A	c.(1189-1191)aCa>aAa	p.T397K	MYO5A_ENST00000399233.2_Missense_Mutation_p.T397K|MYO5A_ENST00000356338.6_Missense_Mutation_p.T397K|MYO5A_ENST00000358212.6_Missense_Mutation_p.T397K|MYO5A_ENST00000553916.1_Missense_Mutation_p.T397K	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	397	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCGGGCATTTGTGGCCTGCAG	0.502													16	63					4.7546e-09	5.23977e-09	1	0	T	52689527	G	T	52689527	3	4	499	1	0	0	0	0	1	0	0	0	10148	1377	48	4	4505	4	MYO5A	15	52689527	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	18570621	52689527	49841865	98	96891											
PRM2	5620	broad.mit.edu	37	chr16	11370095	11370095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agactggccatgggtcctctCgtagacctcgacgtgctccg	6	9	12	14	4	1	2	0	0	1	2	5	3	3	2	4	2	1	2	4	2	1	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:11370095C>T	ENST00000435245.2	-	1	242	c.133G>A	c.(133-135)Gag>Aag	p.E45K	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.E45K			P04554	PRM2_HUMAN	protamine 2	45					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TGGGTCCTCTCGTAGACCTCG	0.627													58	111					0	0	0	0	T	11370095	C	T	11370095	3	4	499	1	0	0	0	0	1	0	0	0	12613	893	31	1	183	1	PRM2	16	11370095	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08		11370095	78984658	99	96892											
KIAA0556	23247	broad.mit.edu	37	chr16	27642470	27642470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccagtaaagtccagcgccGaggatggcaccaggtctgga	10	5	13	13	2	1	0	0	0	1	0	2	3	2	2	5	4	1	2	5	4	2	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:27642470G>A	ENST00000261588.4	+	5	414	c.395G>A	c.(394-396)cGa>cAa	p.R132Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	132										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCCAGCGCCGAGGATGGCAC	0.517													4	7					0	0	0	0	A	27642470	G	A	27642470	3	1	499	1	0	0	0	0	1	0	0	0	8234	1058	37	1	413	1	KIAA0556	16	27642470	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	16272375	27642470	62712283	100	96893											
ARMC5	79798	broad.mit.edu	37	chr16	31477790	31477790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccctgcgaggtctgtcGcctggtgcagcctggcctgt	2	10	15	14	2	1	0	0	0	1	0	2	1	1	0	5	3	4	1	5	3	0	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:31477790G>A	ENST00000408912.3	+	8	2990	c.2673G>A	c.(2671-2673)tcG>tcA	p.S891S	ARMC5_ENST00000538189.1_Silent_p.S828S|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Silent_p.S796S|ARMC5_ENST00000563544.1_Silent_p.S796S|ARMC5_ENST00000412665.2_Silent_p.S440S			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	796							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGGTCTGTCGCCTGGTGCAG	0.687													19	42					0	0	0	0	A	31477790	G	A	31477790	2	1	499	1	0	0	0	0	0	0	0	1	958	1074	38	1		1	ARMC5	16	31477790	Silent	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	3835320	31477790	58876963	101	96894											
CA7	766	broad.mit.edu	37	chr16	66887318	66887318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctttttacctcggaggacGatgagaggatccacatggtg	9	11	13	8	2	0	1	0	1	0	1	2	6	1	4	2	4	2	1	2	4	1	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:66887318G>A	ENST00000394069.3	+	7	975	c.544G>A	c.(544-546)Gat>Aat	p.D182N	CA7_ENST00000338437.2_Missense_Mutation_p.D238N|RP11-61A14.1_ENST00000551187.1_RNA	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	238					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTCGGAGGACGATGAGAGGAT	0.592													13	58					0	0	0	0	A	66887318	G	A	66887318	3	1	499	1	0	0	0	0	1	0	0	0	2547	1058	37	1	738	1	CA7	16	66887318	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	35409528	66887318	23467435	102	96895											
SCARF1	8578	broad.mit.edu	37	chr17	1538471	1538471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcttccctgccagcatgtAgatcgtggtcacagggcccg	6	8	14	13	2	1	1	1	0	0	1	3	1	2	1	3	3	2	3	3	3	1	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:1538471A>G	ENST00000263071.4	-	11	2123	c.2074T>C	c.(2074-2076)Tac>Cac	p.Y692H	SCARF1_ENST00000348987.3_Missense_Mutation_p.Y606H|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	692	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCAGCATGTAGATCGTGGTC	0.647													13	74					0	0	0	0	G	1538471	A	G	1538471	3	3	499	1	0	0	0	0	1	0	0	0	13969	420	15	5	422	5	SCARF1	17	1538471	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08		1538471	79656739	103	96896											
MED31	51003	broad.mit.edu	37	chr17	6547860	6547860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgcatccgcttccgggaaTagtgctgccaatgtagaatc	9	9	12	11	3	0	1	0	0	0	1	3	2	2	2	3	2	2	4	3	2	5	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:6547860T>C	ENST00000225728.3	-	4	428	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	MED31_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y34C|TXNDC17_ENST00000250101.5_3'UTR	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						CTTCCGGGAATAGTGCTGCCA	0.453													29	168					0	0	0	0	C	6547860	T	C	6547860	3	2	499	1	0	0	0	0	1	0	0	0	9518	1420	49	5	76	5	MED31	17	6547860	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	5009389	6547860	74647350	104	96897											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			34	23					0	0	0	0	A	7578212	G	A	7578212	4	1	499	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	1030352	7578212	73616998	105	96898											
PFAS	5198	broad.mit.edu	37	chr17	8172143	8172143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagggatggagggcgcCgtgctgcccgtgtggagtgc	4	7	20	10	4	0	0	0	0	0	0	0	4	0	3	2	4	4	1	2	4	0	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:8172143C>T	ENST00000314666.6	+	27	3808	c.3675C>T	c.(3673-3675)gcC>gcT	p.A1225A	PFAS_ENST00000545834.1_Silent_p.A801A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1225	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			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)	TGGAGGGCGCCGTGCTGCCCG	0.697													17	81					0	0	0	0	T	8172143	C	T	8172143	2	4	499	1	0	0	0	0	0	0	0	1	11826	639	23	1		1	PFAS	17	8172143	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	593931	8172143	73023067	106	96899											
DNAH9	1770	broad.mit.edu	37	chr17	11687618	11687618	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtttcctgtacagcGtcacttcagcgtgtttgtcc	4	16	9	12	2	2	0	2	0	0	0	4	0	4	0	3	0	3	3	3	0	1	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:11687618G>A	ENST00000262442.3	+	41	7891	c.7821_splice	c.e41-1	p.R2608_splice	DNAH9_ENST00000454412.2_Splice_Site_p.R2608_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2608	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGTACAGCGTCACTTCAGC	0.488													49	240					0	0	0	0	A	11687618	G	A	11687618	5	1	499	1	0	0	0	0	0	0	1	0	4644	1159	40	1	7985	1	DNAH9	17	11687618	Splice_Site	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	3515475	11687618	69507592	107	96900											
C17orf66	256957	broad.mit.edu	37	chr17	34190056	34190056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcgtagccccgtcaaagtCtccatcctttgaccctcatt	8	13	5	15	2	3	1	2	1	1	0	6	1	4	1	5	0	1	1	5	0	2	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:34190056C>T	ENST00000311880.2	-	8	847	c.699G>A	c.(697-699)gaG>gaA	p.E233E	C17orf66_ENST00000592980.1_Silent_p.E193E	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	233							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCGTCAAAGTCTCCATCCTTT	0.512													15	81					0	0	0	0	T	34190056	C	T	34190056	2	4	499	1	0	0	0	0	0	0	0	1	1889	912	32	2		2	C17orf66	17	34190056	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	22502438	34190056	47005154	108	96901											
PLXDC1	57125	broad.mit.edu	37	chr17	37263766	37263766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtggtcccactgaaccAcaaagactgtccctggggag	12	6	11	12	1	0	2	0	1	0	1	2	3	2	3	3	3	2	0	3	3	3	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:37263766A>G	ENST00000315392.4	-	6	816	c.605T>C	c.(604-606)gTg>gCg	p.V202A	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.V162A|PLXDC1_ENST00000539608.1_Missense_Mutation_p.V129A|PLXDC1_ENST00000394316.2_Missense_Mutation_p.V202A	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	202					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCACTGAACCACAAAGACTGT	0.582													13	31					0	0	0	0	G	37263766	A	G	37263766	3	3	499	1	0	0	0	0	1	0	0	0	12189	159	6	5	933	5	PLXDC1	17	37263766	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	3073710	37263766	43931444	109	96902											
MKS1	54903	broad.mit.edu	37	chr17	56290379	56290379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcccgctcctcctcctcCggctgtgcgtggggggaaac	3	9	13	16	4	0	0	0	0	0	0	5	1	5	1	5	4	2	3	5	4	1	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:56290379C>T	ENST00000393119.2	-	8	896	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MKS1_ENST00000313863.6_Silent_p.P274P|MKS1_ENST00000337050.7_Silent_p.P274P|MKS1_ENST00000537529.2_Silent_p.P264P|MKS1_ENST00000546108.1_Silent_p.P71P	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	274					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCCTCCTCCGGCTGTGCGT	0.537													28	75					0	0	0	0	T	56290379	C	T	56290379	2	4	499	1	0	0	0	0	0	0	0	1	9678	639	23	1		1	MKS1	17	56290379	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	19026613	56290379	24904831	110	96903											
LAMA1	284217	broad.mit.edu	37	chr18	6977756	6977756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttgcgggcctggctgatCaacagtttaatttctgatag	8	15	11	7	1	2	2	1	2	1	0	2	2	2	2	1	2	2	3	1	2	3	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr18:6977756C>G	ENST00000389658.3	-	44	6408	c.6315G>C	c.(6313-6315)ttG>ttC	p.L2105F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2105	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGCTGATCAACAGTTTAA	0.483													16	78					0	0	0	0	G	6977756	C	G	6977756	3	3	499	1	0	0	0	0	1	0	0	0	8658	825	29	2	2992	2	LAMA1	18	6977756	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08		6977756	71099492	111	96904											
ZNF521	25925	broad.mit.edu	37	chr18	22902018	22902018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgatatcgctcagCgattcaaacacctggaggca	10	11	10	10	2	3	1	2	1	1	0	4	3	3	2	1	2	2	3	1	2	2	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr18:22902018C>T	ENST00000361524.3	-	3	322	c.174G>A	c.(172-174)tcG>tcA	p.S58S	ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S58S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	58					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TATCGCTCAGCGATTCAAACA	0.433			T	PAX5	ALL								4	86					0	0	0	0	T	22902018	C	T	22902018	2	4	499	1	0	0	0	0	0	0	0	1	18060	755	27	1		1	ZNF521	18	22902018	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	15924262	22902018	55175230	112	96905											
NFIX	4784	broad.mit.edu	37	chr19	13192670	13192670	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggccaggccaccggacagGtgagtccagagggccccagg	8	2	17	14	2	0	2	0	1	0	1	1	3	1	3	6	6	0	0	6	6	0	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:13192670G>T	ENST00000358552.3	+	6	1128		c.e6+1		NFIX_ENST00000360105.4_Splice_Site|NFIX_ENST00000397661.2_Splice_Site|NFIX_ENST00000587260.1_Splice_Site|NFIX_ENST00000592199.1_Splice_Site|NFIX_ENST00000585575.1_Splice_Site|NFIX_ENST00000588228.1_Splice_Site|NFIX_ENST00000587760.1_Splice_Site			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)						DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACCGGACAGGTGAGTCCAGA	0.632											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	44					0.000442599	0.000453804	1	0	T	13192670	G	T	13192670	5	4	499	1	0	0	0	0	0	0	1	0	10444	1275	44	4	1285	4	NFIX	19	13192670	Splice_Site	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		13192670	45936313	113	96906											
ATP4A	495	broad.mit.edu	37	chr19	36051824	36051824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcaatgagagcgattGccaggtacagctggggacag	12	5	14	10	1	0	1	0	1	0	1	0	4	0	2	2	3	5	3	2	3	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:36051824G>T	ENST00000262623.3	-	5	459	c.431C>A	c.(430-432)gCa>gAa	p.A144E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	144					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GAGAGCGATTGCCAGGTACAG	0.577													17	85					0.000566183	0.000576866	1	0	T	36051824	G	T	36051824	3	4	499	1	0	0	0	0	1	0	0	0	1149	1319	46	4	2748	4	ATP4A	19	36051824	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	22859154	36051824	23077159	114	96907											
DPRX	503834	broad.mit.edu	37	chr19	54140232	54140232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcatctaaccaaagtcGagagagatgataaatacaaa	18	9	7	7	1	2	3	1	1	1	2	3	5	2	3	1	0	2	1	1	0	6	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:54140232G>T	ENST00000376650.1	+	3	617	c.566G>T	c.(565-567)cGa>cTa	p.R189L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AACCAAAGTCGAGAGAGATGA	0.443													23	140					1.9806e-07	2.1534e-07	1	0	T	54140232	G	T	54140232	3	4	499	1	0	0	0	0	1	0	0	0	4774	1058	37	3	576	3	DPRX	19	54140232	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	18088408	54140232	4988751	115	96908											
FCAR	2204	broad.mit.edu	37	chr19	55396782	55396782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataaaaaactccacgtaccGagagataggcagaagactga	18	5	9	9	2	0	4	0	1	0	3	1	6	1	4	2	1	2	2	2	1	6	3	rs140716224		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:55396782G>A	ENST00000355524.3	+	3	216	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	FCAR_ENST00000469767.1_Missense_Mutation_p.R69Q|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Missense_Mutation_p.R57Q|FCAR_ENST00000359272.4_Missense_Mutation_p.R57Q|FCAR_ENST00000391726.3_Missense_Mutation_p.R57Q|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.R69Q|FCAR_ENST00000345937.4_Missense_Mutation_p.R69Q|FCAR_ENST00000391724.3_Missense_Mutation_p.R57Q	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	69	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCCACGTACCGAGAGATAGGC	0.478													38	55					0	0	0	0	A	55396782	G	A	55396782	3	1	499	1	0	0	0	0	1	0	0	0	5818	1058	37	1	216	1	FCAR	19	55396782	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08	1256550	55396782	3732201	116	96909											
ZNF835	90485	broad.mit.edu	37	chr19	57176533	57176533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtttccttccaactctgCgccctggagggcgacgctca	6	9	10	16	3	2	0	1	0	1	0	4	2	4	1	4	2	2	2	4	2	1	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:57176533C>A	ENST00000537055.2	-	2	265	c.34G>T	c.(34-36)Gca>Tca	p.A12S		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCCAACTCTGCGCCCTGGAGG	0.552													29	37					2.70662e-09	3.00324e-09	1	0	A	57176533	C	A	57176533	3	1	499	1	0	0	0	0	1	0	0	0	18279	768	27	3	1581	3	ZNF835	19	57176533	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	1779751	57176533	1952450	117	96910											
ANGPT4	51378	broad.mit.edu	37	chr20	868980	868980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgttttggccctgaagctGctggagcttctgcctctgta	4	14	11	12	0	2	1	0	1	2	0	2	2	2	2	3	2	4	5	3	2	2	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:868980G>C	ENST00000381922.3	-	3	670	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q190E	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	190					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CCCTGAAGCTGCTGGAGCTTC	0.582													6	75					0	0	0	0	C	868980	G	C	868980	3	2	499	1	0	0	0	0	1	0	0	0	612	1328	46	4	971	4	ANGPT4	20	868980	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		868980	62156540	118	96911											
SLC24A3	57419	broad.mit.edu	37	chr20	19560691	19560691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgtgtgtgatgacttcttCgtcccttccttggaaaagat	8	16	9	8	1	1	3	0	2	1	1	4	4	3	4	2	1	0	0	2	1	2	5			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:19560691C>T	ENST00000328041.6	+	4	593	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	132						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGACTTCTTCGTCCCTTCCT	0.502													23	86					0	0	0	0	T	19560691	C	T	19560691	2	4	499	1	0	0	0	0	0	0	0	1	14555	883	31	1		1	SLC24A3	20	19560691	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	18691711	19560691	43464829	119	96912											
NFATC2	4773	broad.mit.edu	37	chr20	50048638	50048638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggtccaagttctgctcCtgtttaatggtcacccccgc	5	13	9	14	1	3	0	1	0	2	0	5	0	5	0	4	2	1	3	4	2	2	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50048638C>T	ENST00000371564.3	-	9	2907	c.2688G>A	c.(2686-2688)caG>caA	p.Q896Q	NFATC2_ENST00000396009.3_Silent_p.Q896Q|NFATC2_ENST00000414705.1_Silent_p.Q876Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	896					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGTTCTGCTCCTGTTTAATGG	0.522													17	252					0	0	0	0	T	50048638	C	T	50048638	2	4	499	1	0	0	0	0	0	0	0	1	10432	680	24	4		4	NFATC2	20	50048638	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	30487947	50048638	12976882	120	96913			1	163		3	3	584	N	C_A	2.941228e-06
NFATC2	4773	broad.mit.edu	37	chr20	50048821	50048821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtgcctggtgcgaaattCtcgcagtacatgatgtgctg	7	12	14	8	2	1	1	0	1	1	0	2	2	1	1	1	2	4	3	1	2	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50048821C>T	ENST00000371564.3	-	9	2724	c.2505G>A	c.(2503-2505)gaG>gaA	p.E835E	NFATC2_ENST00000396009.3_Silent_p.E835E|NFATC2_ENST00000414705.1_Silent_p.E815E	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	835					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTGCGAAATTCTCGCAGTACA	0.617													6	125					0	0	0	0	T	50048821	C	T	50048821	2	4	499	1	0	0	0	0	0	0	0	1	10432	912	32	2		2	NFATC2	20	50048821	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	183	50048821	12976699	121	96914			1	163		3	3	584	N	C_A	2.941228e-06
NFATC2	4773	broad.mit.edu	37	chr20	50049221	50049221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtaaggctggctccccAggcctccatgggtggggctg	5	8	17	11	0	0	0	0	0	0	0	2	0	2	0	4	7	0	5	4	7	2	2			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50049221A>G	ENST00000371564.3	-	9	2324	c.2105T>C	c.(2104-2106)cTg>cCg	p.L702P	NFATC2_ENST00000396009.3_Missense_Mutation_p.L702P|NFATC2_ENST00000414705.1_Missense_Mutation_p.L682P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	702					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGGCTCCCCAGGCCTCCATG	0.652													16	67					0	0	0	0	G	50049221	A	G	50049221	3	3	499	1	0	0	0	0	1	0	0	0	10432	188	7	5	728	5	NFATC2	20	50049221	Missense_Mutation	SNP	A	TCGA-UF-A7JD-01A-11D-A34J-08	400	50049221	12976299	122	96915			1	163		3	3	584	N	C_A	2.941228e-06
USP25	29761	broad.mit.edu	37	chr21	17199409	17199409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatttactcagtcccggaTacctccagatttgcccatgc	9	11	6	15	1	1	1	1	0	0	1	3	2	3	2	5	1	4	0	5	1	2	4			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:17199409T>C	ENST00000285681.2	+	14	1949	c.1580T>C	c.(1579-1581)aTa>aCa	p.I527T	USP25_ENST00000400183.2_Missense_Mutation_p.I527T|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.I527T			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	527					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGTCCCGGATACCTCCAGAT	0.473													6	91					0	0	0	0	C	17199409	T	C	17199409	3	2	499	1	0	0	0	0	1	0	0	0	17152	1406	49	5	1634	5	USP25	21	17199409	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08		17199409	30930486	123	96916											
JAM2	58494	broad.mit.edu	37	chr21	27062254	27062254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaactgggtcggagtgtCtcctttgtctactatcaaca	11	12	9	9	1	3	1	1	0	2	1	5	2	3	2	1	2	3	0	1	2	5	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:27062254C>T	ENST00000480456.1	+	3	760	c.210C>T	c.(208-210)gtC>gtT	p.V70V	JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Silent_p.V70V|JAM2_ENST00000312957.5_Silent_p.V70V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	70	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTCGGAGTGTCTCCTTTGTCT	0.428													28	113					0	0	0	0	T	27062254	C	T	27062254	2	4	499	1	0	0	0	0	0	0	0	1	7996	900	32	2		2	JAM2	21	27062254	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	9862845	27062254	21067641	124	96917											
KCNJ6	3763	broad.mit.edu	37	chr21	39086937	39086937	+	Frame_Shift_Del	DEL	A	A	-																															gacaatggaccccaacacagAttggattaagagaagaataa																										TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:39086937delA	ENST00000400482.3	-	3	1112	c.523delT	c.(523-525)ctfs	p.S175fs	KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.S175fs	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	175					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCCAACACAGATTGGATTAAG	0.433													14	95	---	---	---	---					-	39086937	A	-	39086937	7	5	499	1	0	1	0	1	0	0	0	0	8108	333	12	0	756	0	KCNJ6	21	39086937	Frame_Shift_Del	DEL	A	TCGA-UF-A7JD-01A-11D-A34J-08	12024683	39086937	9042958	125	96918											
MYO18B	84700	broad.mit.edu	37	chr22	26348276	26348276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggctcagatgcgcatcGagtacctggaacagtccacc	10	7	12	12	2	1	1	1	0	0	1	3	3	2	2	3	3	3	3	3	3	2	1			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:26348276G>A	ENST00000335473.7	+	38	6107	c.5857G>A	c.(5857-5859)Gag>Aag	p.E1953K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E1954K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1953K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1953	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATGCGCATCGAGTACCTGGA	0.537													8	14					0	0	0	0	A	26348276	G	A	26348276	3	1	499	1	0	0	0	0	1	0	0	0	10136	1059	37	1	6003	1	MYO18B	22	26348276	Missense_Mutation	SNP	G	TCGA-UF-A7JD-01A-11D-A34J-08		26348276	24956290	126	96919											
MKL1	57591	broad.mit.edu	37	chr22	40819563	40819563	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtgtgggggtggactTggcagtggggatagtggttc	7	11	20	3	0	0	1	0	1	0	0	1	3	0	3	0	7	0	2	0	7	2	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:40819563T>C	ENST00000396617.3	-	9	1194	c.604A>G	c.(604-606)Aag>Gag	p.K202E	MKL1_ENST00000402042.1_Intron|MKL1_ENST00000407029.1_Missense_Mutation_p.K202E|MKL1_ENST00000355630.3_Missense_Mutation_p.K202E			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	202	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGGTGGACTTGGCAGTGGGG	0.562			T	RBM15	acute megakaryocytic leukemia								11	64					0	0	0	0	C	40819563	T	C	40819563	3	2	499	1	0	0	0	0	1	0	0	0	9670	1821	63	5	2219	5	MKL1	22	40819563	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08	14471287	40819563	10485003	127	96920											
SBF1	6305	broad.mit.edu	37	chr22	50904500	50904500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatcagcaacaatcacatCgagctgcggaccaagggagc	14	4	11	12	2	2	1	2	0	0	1	3	4	2	3	1	2	5	2	1	2	3	0			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:50904500C>T	ENST00000380817.2	-	9	1084	c.901G>A	c.(901-903)Gat>Aat	p.D301N	SBF1_ENST00000390679.3_Missense_Mutation_p.D301N|SBF1_ENST00000348911.6_Missense_Mutation_p.D302N	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	301	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACAATCACATCGAGCTGCGGA	0.607													46	68					0	0	0	0	T	50904500	C	T	50904500	3	4	499	1	0	0	0	0	1	0	0	0	13944	884	31	1	4912	1	SBF1	22	50904500	Missense_Mutation	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	10084937	50904500	400066	128	96921											
TRMT2B	79979	broad.mit.edu	37	chrX	100265668	100265668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggctcgcctaagagctTcttagcagggtctggaggac	10	8	14	9	1	2	1	0	0	2	1	3	3	2	3	1	4	2	3	1	4	3	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chrX:100265668T>C	ENST00000338687.7	-	13	2087	c.1282A>G	c.(1282-1284)Aag>Gag	p.K428E	TRMT2B_ENST00000372935.1_Missense_Mutation_p.K473E|TRMT2B_ENST00000372936.3_Missense_Mutation_p.K473E|TRMT2B_ENST00000372939.1_Missense_Mutation_p.K428E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.K473E			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	473							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTAAGAGCTTCTTAGCAGGG	0.488													24	27					0	0	0	0	C	100265668	T	C	100265668	3	2	499	1	0	0	0	0	1	0	0	0	16661	1792	62	5	101	5	TRMT2B	23	100265668	Missense_Mutation	SNP	T	TCGA-UF-A7JD-01A-11D-A34J-08		100265668	55004892	129	96922											
WDR44	54521	broad.mit.edu	37	chrX	117582899	117582899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcttctctctgctgaCttcactggagcaatcaaagt	10	13	8	10	0	5	1	2	1	3	0	6	3	5	2	0	1	2	3	0	1	3	3			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chrX:117582899C>T	ENST00000254029.3	+	20	3086	c.2691C>T	c.(2689-2691)gaC>gaT	p.D897D	WDR44_ENST00000371825.3_Silent_p.D889D|WDR44_ENST00000371822.5_Silent_p.D808D	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	897						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCTCTGCTGACTTCACTGGAG	0.274													27	19					0	0	0	0	T	117582899	C	T	117582899	2	4	499	1	0	0	0	0	0	0	0	1	17392	564	20	4		4	WDR44	23	117582899	Silent	SNP	C	TCGA-UF-A7JD-01A-11D-A34J-08	17317231	117582899	37687661	130	96923											
MIB2	142678	broad.mit.edu	37	chr1	1563210	1563210	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgacgtcaacctgcccGtgagtgctgctccctggcct	4	10	12	15	2	1	2	1	2	0	0	2	2	2	2	4	1	4	3	4	1	1	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:1563210G>A	ENST00000357210.4	+	13	2070		c.e13+1		MIB2_ENST00000504599.1_Splice_Site|MIB2_ENST00000518681.1_Splice_Site|MIB2_ENST00000378708.1_Splice_Site|MIB2_ENST00000378710.3_Splice_Site|MIB2_ENST00000378712.1_Splice_Site|MIB2_ENST00000520777.1_Splice_Site|MIB2_ENST00000505820.2_Splice_Site|MIB2_ENST00000360522.4_Splice_Site|MIB2_ENST00000355826.5_Splice_Site	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2						Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACCTGCCCGTGAGTGCTGC	0.692													7	18					0	0	0	0	A	1563210	G	A	1563210	5	1	500	1	0	0	0	0	0	0	1	0	9636	1159	40	1	2076	1	MIB2	1	1563210	Splice_Site	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		1563210	247687411	1	96924											
KIF1B	23095	broad.mit.edu	37	chr1	10397556	10397556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgttgcaggccagtggaatCctcccagagtatgcagatat	10	10	12	9	0	0	2	0	0	0	2	2	3	2	3	3	2	2	4	3	2	3	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:10397556C>T	ENST00000377086.1	+	31	3589	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	KIF1B_ENST00000263934.6_Silent_p.I1083I|KIF1B_ENST00000377081.1_Silent_p.I1129I			O60333	KIF1B_HUMAN	kinesin family member 1B	1129					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGTGGAATCCTCCCAGAGT	0.502													55	124					0	0	0	0	T	10397556	C	T	10397556	2	4	500	1	0	0	0	0	0	0	0	1	8335	845	30	2		2	KIF1B	1	10397556	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	8834346	10397556	238853065	2	96925											
PLK3	1263	broad.mit.edu	37	chr1	45269865	45269865	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtctgactgtggccacagTagtggagtcagccctttgtg	7	11	14	9	0	2	1	1	1	1	0	2	2	2	2	2	3	1	1	2	3	1	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:45269865T>A	ENST00000372201.4	+	11	1528	c.1289T>A	c.(1288-1290)gTa>gAa	p.V430E	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	430						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTGGCCACAGTAGTGGAGTCA	0.557													44	79					0	0	0	0	A	45269865	T	A	45269865	3	1	500	1	0	0	0	0	1	0	0	0	12169	1638	57	5	1331	5	PLK3	1	45269865	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	34872309	45269865	203980756	3	96926											
WDR63	126820	broad.mit.edu	37	chr1	85550274	85550274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaatataaagaacatattCctgaagatgtgtatatttat	18	14	6	3	0	0	4	0	1	0	3	1	4	1	4	1	0	1	1	1	0	11	8			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:85550274C>T	ENST00000294664.6	+	6	616	c.436C>T	c.(436-438)Cct>Tct	p.P146S	WDR63_ENST00000326813.8_Missense_Mutation_p.P146S|WDR63_ENST00000370596.1_Missense_Mutation_p.P146S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	146										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGAACATATTCCTGAAGATGT	0.343													32	74					0	0	0	0	T	85550274	C	T	85550274	3	4	500	1	0	0	0	0	1	0	0	0	17410	855	30	2	454	2	WDR63	1	85550274	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	40280409	85550274	163700347	4	96927											
HIAT1	64645	broad.mit.edu	37	chr1	100533616	100533616	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatatggggacagcttggtGgtggtcttagctacagcaat	9	12	14	6	0	1	0	0	0	1	0	1	1	1	1	0	5	4	4	0	5	5	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:100533616G>C	ENST00000370152.3	+	6	706	c.570G>C	c.(568-570)gtG>gtC	p.V190V	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	190					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACAGCTTGGTGGTGGTCTTAG	0.458													35	88					0	0	0	0	C	100533616	G	C	100533616	2	2	500	1	0	0	0	0	0	0	0	1	7147	1335	47	4		4	HIAT1	1	100533616	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	14983342	100533616	148717005	5	96928											
CLCC1	23155	broad.mit.edu	37	chr1	109477344	109477345	+	Frame_Shift_Ins	INS	-	-	T																															acgtggtccagccacacctcINSttgcggggctgtatgtgctg																								rs138000506		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:109477344_109477345insT	ENST00000369971.2	-	11	1732_1733	c.1603_1604insA	c.(1603-1605)aggfs	p.R535fs	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Ins_p.R485fs|CLCC1_ENST00000369969.2_Frame_Shift_Ins_p.R414fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Ins_p.R350fs|CLCC1_ENST00000302500.4_Frame_Shift_Ins_p.R414fs|CLCC1_ENST00000356970.2_Frame_Shift_Ins_p.R535fs|CLCC1_ENST00000415331.1_Frame_Shift_Ins_p.R485fs|CLCC1_ENST00000369968.2_Frame_Shift_Ins_p.R350fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	535						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGCCACACCTCTTGCGGGGCTG	0.589													35	107	---	---	---	---					T	109477345	-	T	109477344	7	5	500	1	0	1	1	0	0	0	0	0	3490	913	32	0	55	0	CLCC1	1	109477344	Frame_Shift_Ins	INS	-	TCGA-UF-A7JF-01A-11D-A34J-08	8943728	109477344	139773277	6	96929											
PDE4DIP	9659	broad.mit.edu	37	chr1	145021132	145021132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgtgtgactcgttctgGgtaccatctccccatcatcc	5	13	8	15	1	3	1	1	1	2	0	6	1	4	1	4	1	2	3	4	1	1	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:145021132G>T	ENST00000369359.4	-	2	307	c.269C>A	c.(268-270)cCc>cAc	p.P90H	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P19H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P90H|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.P19H|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.P90H|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.P19H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.P90H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTCGTTCTGGGTACCATCTC	0.438			T	PDGFRB	MPD								8	185					2.74318e-10	3.1875e-10	1	0	T	145021132	G	T	145021132	3	4	500	1	0	0	0	0	1	0	0	0	11714	1232	43	4	8539	4	PDE4DIP	1	145021132	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	35543788	145021132	104229489	7	96930											
THBS3	7059	broad.mit.edu	37	chr1	155165687	155165687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaagtcctcaggcactGtgtctgaagaaggggaaata	13	8	12	8	0	3	2	2	1	1	1	4	3	4	3	1	3	0	2	1	3	5	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:155165687G>T	ENST00000368378.3	-	23	2836	c.2816C>A	c.(2815-2817)aCa>aAa	p.T939K	THBS3_ENST00000541990.1_Missense_Mutation_p.T468K|THBS3_ENST00000541576.1_Missense_Mutation_p.T336K|THBS3_ENST00000457183.2_Missense_Mutation_p.T819K|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	939	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCAGGCACTGTGTCTGAAGA	0.512													43	146					6.68952e-21	8.11596e-21	1	0	T	155165687	G	T	155165687	3	4	500	1	0	0	0	0	1	0	0	0	15949	1377	48	4	58	4	THBS3	1	155165687	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	10144555	155165687	94084934	8	96931											
OR10Z1	128368	broad.mit.edu	37	chr1	158576474	158576474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatcatccctagaatgctCtctggcctggctggggggga	6	9	15	11	0	2	1	1	0	1	1	4	2	3	2	2	6	1	3	2	6	2	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:158576474C>T	ENST00000361284.1	+	1	246	c.246C>T	c.(244-246)ctC>ctT	p.L82L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L82L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTAGAATGCTCTCTGGCCTGG	0.547													67	144					0	0	0	0	T	158576474	C	T	158576474	2	4	500	1	0	0	0	0	0	0	0	1	10994	900	32	2		2	OR10Z1	1	158576474	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	3410787	158576474	90674147	9	96932											
SPTA1	6708	broad.mit.edu	37	chr1	158615117	158615117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcgataagttctgcaCtgaagtcctctaaggcctgg	9	11	10	11	1	2	1	0	1	2	0	4	2	3	1	2	2	1	2	2	2	3	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:158615117C>A	ENST00000368148.3	-	29	4235	c.4055G>T	c.(4054-4056)aGt>aTt	p.S1352I	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1352I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1352					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGTTCTGCACTGAAGTCCTC	0.507													19	69					3.32936e-07	3.6623e-07	1	0	A	158615117	C	A	158615117	3	1	500	1	0	0	0	0	1	0	0	0	15206	565	20	4	3300	4	SPTA1	1	158615117	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	38643	158615117	90635504	10	96933											
FCER1A	2205	broad.mit.edu	37	chr1	159276016	159276016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactatgagtctgagcccctCaacattactgtaataaaagg	14	10	8	9	0	2	2	1	2	1	0	2	3	2	2	2	1	3	1	2	1	6	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:159276016C>T	ENST00000368115.1	+	5	669	c.570C>T	c.(568-570)ctC>ctT	p.L190L	FCER1A_ENST00000368114.1_Silent_p.L157L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	190	Ig-like 2.					integral to plasma membrane		p.L190L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTGAGCCCCTCAACATTACTG	0.463													22	43					0	0	0	0	T	159276016	C	T	159276016	2	4	500	1	0	0	0	0	0	0	0	1	5819	813	29	2		2	FCER1A	1	159276016	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	660899	159276016	89974605	11	96934											
KIF21B	23046	broad.mit.edu	37	chr1	200967613	200967613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttgagcgtctgcaacCgccgctggctgttctccagc	4	10	13	14	3	2	1	0	1	2	0	3	1	2	1	3	2	5	5	3	2	1	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:200967613C>T	ENST00000332129.2	-	14	2292	c.1976G>A	c.(1975-1977)cGg>cAg	p.R659Q	KIF21B_ENST00000461742.2_Missense_Mutation_p.R659Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R659Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R659Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	659					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGTCTGCAACCGCCGCTGGCT	0.572													41	113					0	0	0	0	T	200967613	C	T	200967613	3	4	500	1	0	0	0	0	1	0	0	0	8340	652	23	1	2982	1	KIF21B	1	200967613	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	41691597	200967613	48283008	12	96935											
RYR2	6262	broad.mit.edu	37	chr1	237791330	237791330	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcagattcggtccctgctGagtgtgagaatgggcaaaga	10	9	15	7	1	1	4	1	2	0	3	3	5	2	4	1	3	1	2	1	3	2	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:237791330G>C	ENST00000366574.2	+	41	6707	c.6390G>C	c.(6388-6390)ctG>ctC	p.L2130L	RYR2_ENST00000360064.6_Silent_p.L2128L|RYR2_ENST00000542537.1_Silent_p.L2114L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2130	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCCCTGCTGAGTGTGAGAA	0.458													18	32					0	0	0	0	C	237791330	G	C	237791330	2	2	500	1	0	0	0	0	0	0	0	1	13854	1277	45	2		2	RYR2	1	237791330	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	36823717	237791330	11459291	13	96936											
ZNF672	79894	broad.mit.edu	37	chr1	249142406	249142406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacgggcgagaagcccttCgcgtgccccgagtgcggccg	6	4	15	16	7	0	1	0	0	0	1	1	3	0	1	4	2	3	0	4	2	1	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:249142406C>T	ENST00000306562.3	+	4	1679	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGAAGCCCTTCGCGTGCCCCG	0.711													16	21					0	0	0	0	T	249142406	C	T	249142406	2	4	500	1	0	0	0	0	0	0	0	1	18174	883	31	1		1	ZNF672	1	249142406	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	11351076	249142406	108215	14	96937											
NRXN1	9378	broad.mit.edu	37	chr2	51254857	51254857	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagttgaccctcacgtcAcgaatccaccccttgaaggg	10	7	11	13	2	2	2	2	2	0	0	3	5	3	3	4	2	0	1	4	2	2	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:51254857A>T	ENST00000404971.1	-	2	1894	c.555T>A	c.(553-555)cgT>cgA	p.R185R	NRXN1_ENST00000401669.2_Silent_p.R185R|NRXN1_ENST00000406859.3_Silent_p.R185R|NRXN1_ENST00000402717.3_Silent_p.R185R|NRXN1_ENST00000405472.3_Silent_p.R185R|NRXN1_ENST00000405581.1_Silent_p.R185R|NRXN1_ENST00000406316.2_Silent_p.R185R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	185	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCTCACGTCACGAATCCACC	0.706													6	18					0	0	0	0	T	51254857	A	T	51254857	2	4	500	1	0	0	0	0	0	0	0	1	10736	146	6	5		5	NRXN1	2	51254857	Silent	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08		51254857	191944516	15	96938											
NRXN1	9378	broad.mit.edu	37	chr2	51255184	51255184	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatcagctccaggaagtcGcagaagccctcgtcgtcgaa	12	6	11	12	4	1	2	1	0	0	2	6	4	2	3	2	1	2	2	2	1	4	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:51255184G>T	ENST00000404971.1	-	2	1567	c.228C>A	c.(226-228)tgC>tgA	p.C76*	NRXN1_ENST00000401669.2_Nonsense_Mutation_p.C76*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000405581.1_Nonsense_Mutation_p.C76*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.C76*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	76	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGAAGTCGCAGAAGCCCT	0.652													14	22					1.3612e-06	1.48741e-06	1	0	T	51255184	G	T	51255184	4	4	500	1	0	0	0	0	0	1	0	0	10736	1079	38	3	4770	3	NRXN1	2	51255184	Nonsense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	327	51255184	191944189	16	96939											
SFXN5	94097	broad.mit.edu	37	chr2	73198781	73198781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctccagctccccgtacCgcatcaggaccacattgcag	8	8	7	18	2	1	0	1	0	0	0	4	1	4	1	6	1	3	4	6	1	1	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:73198781C>A	ENST00000272433.2	-	11	789	c.659G>T	c.(658-660)cGg>cTg	p.R220L	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	220					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTCCCCGTACCGCATCAGGAC	0.602													9	36					1.58986e-06	1.72584e-06	1	0	A	73198781	C	A	73198781	3	1	500	1	0	0	0	0	1	0	0	0	14285	652	23	3	379	3	SFXN5	2	73198781	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	21943597	73198781	170000592	17	96940											
TET3	200424	broad.mit.edu	37	chr2	74274706	74274706	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccctgctccttcagagccTtctgctcctggctggtggcc	2	13	10	16	0	2	1	1	0	1	1	5	1	5	1	5	3	3	3	5	3	0	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:74274706T>A	ENST00000409262.3	+	1	1257	c.1257T>A	c.(1255-1257)ccT>ccA	p.P419P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	419							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGAGCCTTCTGCTCCTG	0.612													12	20					0	0	0	0	A	74274706	T	A	74274706	2	1	500	1	0	0	0	0	0	0	0	1	15865	1596	56	5		5	TET3	2	74274706	Silent	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	1075925	74274706	168924667	18	96941											
PTPN4	5775	broad.mit.edu	37	chr2	120709607	120709607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgtactgatcaatggtcGggacattgcagaacacactc	12	10	10	9	1	1	2	1	1	0	1	3	3	1	3	0	2	3	3	0	2	3	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:120709607G>A	ENST00000263708.2	+	19	2486	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	PTPN4_ENST00000544261.1_Missense_Mutation_p.R205Q	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	572	PDZ.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCAATGGTCGGGACATTGCA	0.428													30	72					0	0	0	0	A	120709607	G	A	120709607	3	1	500	1	0	0	0	0	1	0	0	0	12872	1116	39	1	1785	1	PTPN4	2	120709607	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	46434901	120709607	122489766	19	96942											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530440	125530440	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcttgtagtccagtcTccttctcttctgaatgacaa	8	14	9	10	0	3	2	0	2	3	0	6	3	4	3	2	1	1	2	2	1	3	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:125530440T>A	ENST00000431078.1	+	17	2959	c.2595T>A	c.(2593-2595)tcT>tcA	p.S865S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	865	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TAGTCCAGTCTCCTTCTCTTC	0.527													54	120					0	0	0	0	A	125530440	T	A	125530440	2	1	500	1	0	0	0	0	0	0	0	1	3680	1538	54	5		5	CNTNAP5	2	125530440	Silent	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	4820833	125530440	117668933	20	96943											
UGGT1	56886	broad.mit.edu	37	chr2	128910376	128910376	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtgaactgccccatgatCaagatgtggtagagtatatc	12	10	12	7	0	1	4	1	2	0	2	2	4	1	4	2	2	2	2	2	2	5	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:128910376C>T	ENST00000375990.3	+	19	2366	c.1963C>T	c.(1963-1965)Caa>Taa	p.Q655*	UGGT1_ENST00000259253.6_Nonsense_Mutation_p.Q679*			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	679					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCCCATGATCAAGATGTGGT	0.388													37	130					0	0	0	0	T	128910376	C	T	128910376	4	4	500	1	0	0	0	0	0	1	0	0	17037	827	29	2	2109	2	UGGT1	2	128910376	Nonsense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	3379936	128910376	114288997	21	96944											
CXCR4	7852	broad.mit.edu	37	chr2	136873272	136873272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgacaggtgcagcctgtActtgtccgtcatgcttctca	7	12	9	13	1	2	1	2	1	1	0	4	1	3	1	2	1	4	3	2	1	1	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:136873272A>T	ENST00000409817.1	-	1	541	c.238T>A	c.(238-240)Tac>Aac	p.Y80N	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.Y76N	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	76					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGCAGCCTGTACTTGTCCGTC	0.507													54	40					0	0	0	0	T	136873272	A	T	136873272	3	4	500	1	0	0	0	0	1	0	0	0	4125	391	14	5	836	5	CXCR4	2	136873272	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	7962896	136873272	106326101	22	96945											
PLCL1	5334	broad.mit.edu	37	chr2	198950676	198950676	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgagtttatagggcaatAtacgataccatttgaatgtt	13	14	10	4	1	0	2	0	2	0	0	0	4	0	3	1	2	2	3	1	2	7	8			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:198950676A>T	ENST00000428675.1	+	2	2833	c.2435A>T	c.(2434-2436)tAt>tTt	p.Y812F	PLCL1_ENST00000437704.2_Missense_Mutation_p.Y714F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	812	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATAGGGCAATATACGATACCA	0.438													43	91					0	0	0	0	T	198950676	A	T	198950676	3	4	500	1	0	0	0	0	1	0	0	0	12111	449	16	5	2441	5	PLCL1	2	198950676	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	62077404	198950676	44248697	23	96946											
TRIP12	9320	broad.mit.edu	37	chr2	230655844	230655844	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttatctaccatcttaccgtgCcataactcatcatgcttttt	9	17	3	12	1	4	0	2	0	2	0	4	0	4	0	3	0	5	1	3	0	4	6			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:230655844C>T	ENST00000283943.5	-	29	4492	c.4314G>A	c.(4312-4314)tgG>tgA	p.W1438*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.W1486*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.W1168*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1438					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		TCTTACCGTGCCATAACTCAT	0.373													46	131					0	0	0	0	T	230655844	C	T	230655844	4	4	500	1	0	0	0	0	0	1	0	0	16651	740	26	4	1716	4	TRIP12	2	230655844	Nonsense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	31705168	230655844	12543529	24	96947											
LAMB2	3913	broad.mit.edu	37	chr3	49167412	49167412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatcatgggaatcacagCgaccaccgtcttgagaaccc	11	7	10	13	2	4	1	3	1	1	1	4	4	4	2	3	2	2	0	3	2	2	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:49167412C>T	ENST00000418109.1	-	11	1429	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R422H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	422	Laminin EGF-like 3.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAATCACAGCGACCACCGTC	0.567													76	84					0	0	0	0	T	49167412	C	T	49167412	3	4	500	1	0	0	0	0	1	0	0	0	8664	768	27	1	4223	1	LAMB2	3	49167412	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08		49167412	148855018	25	96948											
OR5K4	403278	broad.mit.edu	37	chr3	98072869	98072869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagagcgtcgtcttctcacaCcaatgtacatctttctgggc	8	13	8	12	2	4	1	1	0	4	1	6	1	4	1	1	1	2	1	1	1	3	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:98072869C>A	ENST00000354924.2	+	1	172	c.172C>A	c.(172-174)Cca>Aca	p.P58T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCTTCTCACACCAATGTACAT	0.463													117	431					1.19196e-58	1.50132e-58	1	0	A	98072869	C	A	98072869	3	1	500	1	0	0	0	0	1	0	0	0	11240	507	18	4	174	4	OR5K4	3	98072869	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	48905457	98072869	99949561	26	96949											
C3orf17	25871	broad.mit.edu	37	chr3	112732831	112732831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactcaaacaggtcttgaaTtgagccctccaaattcatgt	13	11	6	11	0	3	2	2	2	1	0	4	2	4	2	2	1	3	0	2	1	4	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:112732831T>C	ENST00000314400.5	-	3	501	c.310A>G	c.(310-312)Att>Gtt	p.I104V	C3orf17_ENST00000383675.2_Missense_Mutation_p.I104V|C3orf17_ENST00000393857.2_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	104						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGGTCTTGAATTGAGCCCTCC	0.413													148	204					0	0	0	0	C	112732831	T	C	112732831	3	2	500	1	0	0	0	0	1	0	0	0	2230	1493	52	5	1421	5	C3orf17	3	112732831	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	14659962	112732831	85289599	27	96950											
WDR5B	54554	broad.mit.edu	37	chr3	122134164	122134164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctcatattttccatcaTatgctccccaaattatgatt	10	19	2	10	0	2	1	2	1	1	0	5	1	4	1	3	0	1	1	3	0	4	8			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:122134164T>C	ENST00000330689.4	-	1	718	c.212A>G	c.(211-213)tAt>tGt	p.Y71C		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	71								p.Y71C(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTTTCCATCATATGCTCCCCA	0.413													68	242					0	0	0	0	C	122134164	T	C	122134164	3	2	500	1	0	0	0	0	1	0	0	0	17405	1406	49	5	784	5	WDR5B	3	122134164	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	9401333	122134164	75888266	28	96951											
ARMC8	25852	broad.mit.edu	37	chr3	137964058	137964058	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcgtcccccagtcctGacagccagcaggcagggagt	8	4	16	13	1	0	1	0	1	0	0	2	3	2	2	4	4	2	2	4	4	0	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:137964058G>T	ENST00000358441.2	+	13	1510	c.1125G>T	c.(1123-1125)ctG>ctT	p.L375L	ARMC8_ENST00000481646.1_Intron|ARMC8_ENST00000470821.1_Silent_p.L389L|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000469044.1_Intron|ARMC8_ENST00000471453.1_Silent_p.L375L|ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000393058.3_Intron|ARMC8_ENST00000489213.1_Silent_p.L347L|ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000461822.1_Intron	NM_014154.3|NM_213654.2	NP_054873.2|NP_998819.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	0							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CCCCAGTCCTGACAGCCAGCA	0.507													23	63					6.44725e-10	7.38748e-10	1	0	T	137964058	G	T	137964058	2	4	500	1	0	0	0	0	0	0	0	1	961	1277	45	2		2	ARMC8	3	137964058	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	15829894	137964058	60058372	29	96952											
TRIM42	287015	broad.mit.edu	37	chr3	140409854	140409854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggactcttttgagatGgaattctatgaagtcattac	11	14	10	6	1	3	2	1	2	2	1	3	6	3	4	0	2	1	0	0	2	4	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:140409854G>T	ENST00000286349.3	+	4	2096	c.1905G>T	c.(1903-1905)atG>atT	p.M635I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	635	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTTTGAGATGGAATTCTATG	0.418													34	169					3.93418e-24	4.84433e-24	1	0	T	140409854	G	T	140409854	3	4	500	1	0	0	0	0	1	0	0	0	16612	1348	47	4	1919	4	TRIM42	3	140409854	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	2445796	140409854	57612576	30	96953											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	69					0	0	0	0	A	178936091	G	A	178936091	3	1	500	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	38526237	178936091	19086339	31	96954											
EREG	2069	broad.mit.edu	37	chr4	75248411	75248411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacacttctttttaaccGtccaccaacctttaagcaaa	13	12	4	12	1	1	1	0	1	1	0	2	1	2	1	4	0	4	1	4	0	5	6			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:75248411G>A	ENST00000244869.2	+	4	494	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	110					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			CTTTTTAACCGTCCACCAACC	0.373													58	60					0	0	0	0	A	75248411	G	A	75248411	3	1	500	1	0	0	0	0	1	0	0	0	5258	1145	40	1	342	1	EREG	4	75248411	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		75248411	115905865	32	96955											
PRDM8	56978	broad.mit.edu	37	chr4	81124151	81124151	+	Frame_Shift_Del	DEL	C	C	-																															acgctctttctcgcagctgtCcccgctggtgctgggccaga																										TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:81124151delC	ENST00000339711.4	+	10	2766	c.1535delC	c.(1534-1536)tcfs	p.S512fs	PRDM8_ENST00000415738.2_Frame_Shift_Del_p.S512fs|PRDM8_ENST00000504452.1_Frame_Shift_Del_p.S512fs	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCGCAGCTGTCCCCGCTGGTG	0.761													2	4	---	---	---	---					-	81124151	C	-	81124151	7	5	500	1	0	1	0	1	0	0	0	0	12542	855	30	0	1545	0	PRDM8	4	81124151	Frame_Shift_Del	DEL	C	TCGA-UF-A7JF-01A-11D-A34J-08	5875740	81124151	110030125	33	96956											
SCLT1	132320	broad.mit.edu	37	chr4	129867198	129867198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattctattttctgctctcGtaagtcttagctgaagatca	9	18	6	8	1	5	2	1	1	4	1	6	2	5	2	0	0	2	3	0	0	5	7			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:129867198G>A	ENST00000281142.5	-	16	1906	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	468						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTGCTCTCGTAAGTCTTAG	0.343													6	42					0	0	0	0	A	129867198	G	A	129867198	3	1	500	1	0	0	0	0	1	0	0	0	13993	1145	40	1	687	1	SCLT1	4	129867198	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	48743047	129867198	61287078	34	96957											
POLK	51426	broad.mit.edu	37	chr5	74872759	74872759	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggaagctctgtagaaaatgGtaagcaacttattaagacta	16	10	10	5	0	1	2	0	0	1	2	1	3	1	3	0	2	3	4	0	2	9	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:74872759G>A	ENST00000241436.4	+	6	866		c.e6+1		POLK_ENST00000506928.1_Splice_Site|POLK_ENST00000508526.1_Splice_Site|POLK_ENST00000504026.1_Splice_Site|POLK_ENST00000515295.1_Splice_Site|POLK_ENST00000352007.5_Splice_Site|POLK_ENST00000380481.3_Splice_Site	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa						DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAGAAAATGGTAAGCAACTT	0.328								DNA polymerases (catalytic subunits)					27	24					0	0	0	0	A	74872759	G	A	74872759	5	1	500	1	0	0	0	0	0	0	1	0	12276	1275	44	4	713	4	POLK	5	74872759	Splice_Site	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		74872759	106042501	35	96958											
NRG2	9542	broad.mit.edu	37	chr5	139422531	139422532	+	In_Frame_Ins	INS	-	-	GCTGCTGCT																															ctgctgctgctgccgctctcINSgctgctgctgctgctgctgc																										TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:139422531_139422532insGCTGCTGCT	ENST00000541337.1	-	1	352_353	c.123_124insAGCAGCAGC	c.(121-126)agagag>agAGCAGCAGCagag	p.41_42RE>RAAAE	NRG2_ENST00000289422.7_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000394770.1_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000358522.3_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000289409.4_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000545385.1_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000361474.1_In_Frame_Ins_p.41_42RE>RAAAE	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	41	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	p.S41delS(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ctgccgctctcgctgctgctgc	0.703													3	3	---	---	---	---					GCTGCTGCT	139422532	-	GCTGCTGCT	139422531	7	5	500	1	0	1	1	0	0	0	0	0	10719	893	31	0	2559	0	NRG2	5	139422531	In_Frame_Ins	INS	-	TCGA-UF-A7JF-01A-11D-A34J-08	64549772	139422531	41492729	36	96959											
NSD1	64324	broad.mit.edu	37	chr5	176700720	176700720	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattaaaggcccaaaaaGagctaagacagctgcaggaa	19	4	11	7	0	0	2	0	0	0	2	0	4	0	4	1	3	3	3	1	3	7	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:176700720G>T	ENST00000439151.2	+	17	5602	c.5557G>T	c.(5557-5559)Gag>Tag	p.E1853*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1750*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1584*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1584*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1853					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCCCAAAAAGAGCTAAGACA	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			42	43					5.20837e-25	6.46151e-25	1	0	T	176700720	G	T	176700720	4	4	500	1	0	0	0	0	0	1	0	0	10740	943	33	2	5619	2	NSD1	5	176700720	Nonsense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	37278189	176700720	4214540	37	96960											
PNPLA1	285848	broad.mit.edu	37	chr6	36262089	36262089	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcccggccatcttccaCgacttccgcatgttcaactg	7	10	8	16	3	2	0	1	0	1	0	4	2	4	0	4	1	2	2	4	1	1	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:36262089C>T	ENST00000394571.2	+	4	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	209					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622													18	72					0	0	0	0	T	36262089	C	T	36262089	2	4	500	1	0	0	0	0	0	0	0	1	12236	535	19	1		1	PNPLA1	6	36262089	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08		36262089	134852978	38	96961											
CRISP3	10321	broad.mit.edu	37	chr6	49696507	49696507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaccaactgatgtttaCaggttaatgtgagcttcaaa	12	12	8	9	0	1	3	1	3	0	0	1	3	1	3	2	1	3	3	2	1	4	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:49696507C>A	ENST00000433368.2	-	8	812	c.743G>T	c.(742-744)tGt>tTt	p.C248F	CRISP3_ENST00000263045.4_Missense_Mutation_p.C238F|CRISP3_ENST00000423399.2_Missense_Mutation_p.C135F|CRISP3_ENST00000371159.4_Missense_Mutation_p.C256F|CRISP3_ENST00000393666.1_Missense_Mutation_p.C225F	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	225					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGATGTTTACAGGTTAATGT	0.383													31	81					8.58068e-18	1.03344e-17	1	0	A	49696507	C	A	49696507	3	1	500	1	0	0	0	0	1	0	0	0	3911	478	17	4	67	4	CRISP3	6	49696507	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	13434418	49696507	121418560	39	96962											
KATNA1	11104	broad.mit.edu	37	chr6	149918671	149918671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggaatatagattcgtttCtcaaggcgtcgtcttaaagc	13	12	9	7	3	2	1	1	0	2	1	5	2	2	2	0	2	1	1	0	2	7	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:149918671C>T	ENST00000367411.2	-	9	1380	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	KATNA1_ENST00000335643.8_Silent_p.E298E|KATNA1_ENST00000335647.5_Silent_p.E374E|KATNA1_ENST00000494504.1_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	374					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGATTCGTTTCTCAAGGCGTC	0.378													31	43					0	0	0	0	T	149918671	C	T	149918671	2	4	500	1	0	0	0	0	0	0	0	1	8037	912	32	2		2	KATNA1	6	149918671	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	100222164	149918671	21196396	40	96963											
PHF14	9678	broad.mit.edu	37	chr7	11053505	11053505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgtcctaatcaggatGgaattttcaaggagacagat	14	11	10	6	0	2	2	2	0	0	2	3	5	3	4	1	3	1	0	1	3	4	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:11053505G>C	ENST00000403050.3	+	5	1629	c.1177G>C	c.(1177-1179)Gga>Cga	p.G393R	PHF14_ENST00000445996.2_Missense_Mutation_p.G108R	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	393							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAATCAGGATGGAATTTTCAA	0.393													11	23					0	0	0	0	C	11053505	G	C	11053505	3	2	500	1	0	0	0	0	1	0	0	0	11897	1349	47	4	1195	4	PHF14	7	11053505	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		11053505	148085158	41	96964											
TSPAN13	27075	broad.mit.edu	37	chr7	16815960	16815960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcctgattgctttagtggGtctgattggagctgtaaaac	8	15	12	6	0	1	2	0	2	1	0	2	3	2	3	1	2	3	4	1	2	3	6			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:16815960G>A	ENST00000262067.4	+	2	621	c.188G>A	c.(187-189)gGt>gAt	p.G63D	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	63						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCTTTAGTGGGTCTGATTGGA	0.428													40	114					0	0	0	0	A	16815960	G	A	16815960	3	1	500	1	0	0	0	0	1	0	0	0	16732	1261	44	4	194	4	TSPAN13	7	16815960	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	5762455	16815960	142322703	42	96965											
OGDH	4967	broad.mit.edu	37	chr7	44685013	44685013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctgagccgaggctccCtggctgctgtggcccatgca	4	9	12	16	1	0	1	0	1	0	0	2	2	2	1	5	3	3	4	5	3	0	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:44685013C>G	ENST00000222673.5	+	3	352	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	OGDH_ENST00000444676.1_Missense_Mutation_p.L104V|OGDH_ENST00000449767.1_Missense_Mutation_p.L104V|OGDH_ENST00000447398.1_Missense_Mutation_p.L104V|OGDH_ENST00000443864.2_Missense_Mutation_p.L104V|OGDH_ENST00000543843.1_Missense_Mutation_p.L44V|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	104					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCGAGGCTCCCTGGCTGCTGT	0.592													32	91					0	0	0	0	G	44685013	C	G	44685013	3	3	500	1	0	0	0	0	1	0	0	0	10910	680	24	4	316	4	OGDH	7	44685013	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	27869053	44685013	114453650	43	96966											
CACNA2D1	781	broad.mit.edu	37	chr7	81635108	81635108	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtggtgtcagtcttttaatAtcttccaaagacacatctac	11	14	6	10	1	4	1	1	0	3	1	5	1	5	1	1	1	1	0	1	1	4	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:81635108A>T	ENST00000356860.3	-	17	1826	c.1488T>A	c.(1486-1488)gaT>gaA	p.D496E	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D496E|CACNA2D1_ENST00000464354.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	496	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTCTTTTAATATCTTCCAAAG	0.343													34	85					0	0	0	0	T	81635108	A	T	81635108	3	4	500	1	0	0	0	0	1	0	0	0	2573	446	16	5	1879	5	CACNA2D1	7	81635108	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	36950095	81635108	77503555	44	96967											
PRDM14	63978	broad.mit.edu	37	chr8	70970893	70970893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgtgaggccggtgcttCtcatgaacatgaagaatgtg	10	11	12	8	1	1	4	1	3	1	1	2	4	1	4	2	2	2	1	2	2	3	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:70970893C>G	ENST00000276594.2	-	6	1569	c.1368G>C	c.(1366-1368)gaG>gaC	p.E456D		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCGGTGCTTCTCATGAACAT	0.527													25	82					0	0	0	0	G	70970893	C	G	70970893	3	3	500	1	0	0	0	0	1	0	0	0	12535	912	32	2	359	2	PRDM14	8	70970893	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08		70970893	75393129	45	96968											
ZBTB10	65986	broad.mit.edu	37	chr8	81411836	81411836	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaatgaacagagaaagaaAggtattctttgtgatgtcag	16	11	10	4	0	2	4	1	2	1	2	2	5	2	4	0	1	1	1	0	1	6	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:81411836A>G	ENST00000430430.1	+	3	1859	c.1080A>G	c.(1078-1080)aaA>aaG	p.K360K	ZBTB10_ENST00000379091.4_Silent_p.K68K|ZBTB10_ENST00000455036.3_Silent_p.K360K|ZBTB10_ENST00000426744.2_Silent_p.K360K	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	360					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AGAGAAAGAAAGGTATTCTTT	0.383													13	95					0	0	0	0	G	81411836	A	G	81411836	2	3	500	1	0	0	0	0	0	0	0	1	17618	69	3	5		5	ZBTB10	8	81411836	Silent	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	10440943	81411836	64952186	46	96969											
LRRCC1	85444	broad.mit.edu	37	chr8	86044044	86044044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgctgacttccaggatGccttagctaaagaaatagcc	12	10	9	10	0	0	3	0	2	0	1	1	4	1	4	3	1	4	2	3	1	5	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:86044044G>T	ENST00000414626.2	+	11	2645	c.1756G>T	c.(1756-1758)Gcc>Tcc	p.A586S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.A606S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	606					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTCCAGGATGCCTTAGCTAA	0.353													19	45					1.00905e-13	1.18923e-13	1	0	T	86044044	G	T	86044044	3	4	500	1	0	0	0	0	1	0	0	0	9090	1319	46	4	1862	4	LRRCC1	8	86044044	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	4632208	86044044	60319978	47	96970											
DECR1	1666	broad.mit.edu	37	chr8	91033151	91033151	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattagattgtgataaacaaTgcagcagggaattttatttc	14	15	8	4	0	0	2	0	1	0	1	1	3	0	3	0	1	3	2	0	1	7	7	rs137904244	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:91033151T>C	ENST00000522161.1	+	7	1088	c.405T>C	c.(403-405)aaT>aaC	p.N135N	DECR1_ENST00000220764.2_Silent_p.N144N|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	144					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGATAAACAATGCAGCAGGGA	0.348													44	62					0	0	0	0	C	91033151	T	C	91033151	2	2	500	1	0	0	0	0	0	0	0	1	4414	1461	51	5		5	DECR1	8	91033151	Silent	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	4989107	91033151	55330871	48	96971											
HSF1	3297	broad.mit.edu	37	chr8	145535256	145535257	+	Frame_Shift_Ins	INS	-	-	G																															tatagccggcagttctccctINSggagcacgtccacggctcgg																										TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:145535256_145535257insG	ENST00000528838.1	+	7	852_853	c.692_693insG	c.(691-693)cgafs	p.R231fs	HSF1_ENST00000400780.4_Frame_Shift_Ins_p.R166fs	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	231	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAGTTCTCCCTGGAGCACGTCC	0.683													12	182	---	---	---	---					G	145535257	-	G	145535256	7	5	500	1	0	1	1	0	0	0	0	0	7445	1580	55	0	718	0	HSF1	8	145535256	Frame_Shift_Ins	INS	-	TCGA-UF-A7JF-01A-11D-A34J-08	54502105	145535256	828766	49	96972											
LOC286238	286238	broad.mit.edu	37	chr9	91257674	91257676	+	RNA	DEL	TCC	TCC	-																															tcctccttctcctctccttgTcctcctcctcttcttattct																								rs10561116		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:91257674_91257676delTCC	ENST00000418343.2	-	0	916																											cctctccttgtcctcctcctctt	0.483													2	4	---	---	---	---					-	91257676	TCC	-	91257674	6	5	500	0	1	1	0	1	0	0	0	0	8933	1682	58	0		0	LOC286238	9	91257674	RNA	DEL	TCC	TCGA-UF-A7JF-01A-11D-A34J-08		91257674	49955757	50	96973											
NFIL3	4783	broad.mit.edu	37	chr9	94171722	94171722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctatcccctgcttcaaaTacaagttctctgggtcagaa	10	13	7	11	0	3	1	2	0	1	1	5	1	4	1	2	1	3	3	2	1	5	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:94171722T>C	ENST00000297689.3	-	2	1689	c.1295A>G	c.(1294-1296)tAt>tGt	p.Y432C		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	432					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTGCTTCAAATACAAGTTCTC	0.403													41	188					0	0	0	0	C	94171722	T	C	94171722	3	2	500	1	0	0	0	0	1	0	0	0	10443	1406	49	5	97	5	NFIL3	9	94171722	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	2914048	94171722	47041709	51	96974											
ZNF462	58499	broad.mit.edu	37	chr9	109691304	109691304	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtgtgccctgtgtgcctAcaccaaccccatccgcaaag	10	7	8	16	1	0	0	0	0	0	0	1	0	1	0	6	0	4	1	6	0	4	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:109691304A>T	ENST00000277225.5	+	3	5400	c.5111A>T	c.(5110-5112)tAc>tTc	p.Y1704F	ZNF462_ENST00000441147.2_Missense_Mutation_p.Y549F|ZNF462_ENST00000457913.1_Missense_Mutation_p.Y1704F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1704					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTGTGTGCCTACACCAACCCC	0.567													23	65					0	0	0	0	T	109691304	A	T	109691304	3	4	500	1	0	0	0	0	1	0	0	0	18021	391	14	5	5117	5	ZNF462	9	109691304	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	15519582	109691304	31522127	52	96975											
GPR21	2844	broad.mit.edu	37	chr9	125797596	125797596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcctgataagcgctatGccatggtcctgtttcgaatc	7	13	9	12	2	0	1	0	1	0	0	4	2	2	1	4	1	2	2	4	1	3	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:125797596G>T	ENST00000373642.1	+	1	791	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	251						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TAAGCGCTATGCCATGGTCCT	0.512													88	129					1.37074e-43	1.71343e-43	1	0	T	125797596	G	T	125797596	3	4	500	1	0	0	0	0	1	0	0	0	6730	1319	46	4	753	4	GPR21	9	125797596	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	16106292	125797596	15415835	53	96976											
STXBP1	6812	broad.mit.edu	37	chr9	130444818	130444818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaggtgacccaggccaacGgaaagtgggaggtgctgata	12	5	16	8	2	0	2	0	2	0	0	0	5	0	4	2	5	2	1	2	5	3	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:130444818G>A	ENST00000373302.3	+	18	1820	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	STXBP1_ENST00000373299.1_Missense_Mutation_p.G561R|STXBP1_ENST00000481942.1_3'UTR	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	561					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCAGGCCAACGGAAAGTGGGA	0.617													5	116					0	0	0	0	A	130444818	G	A	130444818	3	1	500	1	0	0	0	0	1	0	0	0	15442	1117	39	1	1751	1	STXBP1	9	130444818	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	4647222	130444818	10768613	54	96977											
GRIN1	2902	broad.mit.edu	37	chr9	140055590	140055590	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggaggagttcacagtcaAcggcgacccagtcaagaagg	14	4	13	10	2	3	1	3	0	0	1	3	4	3	3	1	4	1	1	1	4	4	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:140055590A>T	ENST00000371561.3	+	9	2377	c.1280A>T	c.(1279-1281)aAc>aTc	p.N427I	GRIN1_ENST00000371553.3_Missense_Mutation_p.N448I|GRIN1_ENST00000371555.4_Missense_Mutation_p.N448I|GRIN1_ENST00000315048.3_Missense_Mutation_p.N427I|GRIN1_ENST00000371559.4_Missense_Mutation_p.N427I|GRIN1_ENST00000371560.3_Missense_Mutation_p.N448I|GRIN1_ENST00000371550.4_Missense_Mutation_p.N427I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.N448I|GRIN1_ENST00000350902.5_Missense_Mutation_p.N427I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	427					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TTCACAGTCAACGGCGACCCA	0.672													21	29					0	0	0	0	T	140055590	A	T	140055590	3	4	500	1	0	0	0	0	1	0	0	0	6828	43	2	5	1381	5	GRIN1	9	140055590	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	9610772	140055590	1157841	55	96978											
RET	5979	broad.mit.edu	37	chr10	43606838	43606838	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagtgtgccgaacttcacTacatggtggtggccaccgac	9	8	11	13	2	1	0	1	0	0	0	1	2	1	0	4	3	3	0	4	3	3	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:43606838T>G	ENST00000355710.3	+	7	1679	c.1447T>G	c.(1447-1449)Tac>Gac	p.Y483D	RET_ENST00000340058.5_Missense_Mutation_p.Y483D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	483					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGAACTTCACTACATGGTGGT	0.632		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				32	60					0	0	0	0	G	43606838	T	G	43606838	3	3	500	1	0	0	0	0	1	0	0	0	13317	1522	53	5	1473	5	RET	10	43606838	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08		43606838	91927909	56	96979											
C10orf71	118461	broad.mit.edu	37	chr10	50531159	50531159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcaacttctgcttcgattCtgcctttctgacagtcagga	7	15	8	11	1	5	1	2	1	3	0	6	3	5	2	1	1	3	1	1	1	1	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:50531159C>T	ENST00000374144.3	+	3	857	c.569C>T	c.(568-570)tCt>tTt	p.S190F	C10orf71_ENST00000323868.4_Missense_Mutation_p.S190F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	190										endometrium(1)	1						TGCTTCGATTCTGCCTTTCTG	0.547													8	33					0	0	0	0	T	50531159	C	T	50531159	3	4	500	1	0	0	0	0	1	0	0	0	1624	913	32	2	571	2	C10orf71	10	50531159	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	6924321	50531159	85003588	57	96980											
GHITM	27069	broad.mit.edu	37	chr10	85909964	85909964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaacatgggtgcacccctggGagtgggcctgggtctcgtct	5	9	16	11	1	2	0	0	0	2	0	3	2	2	1	3	4	2	1	3	4	1	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:85909964G>A	ENST00000372134.3	+	7	939	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	249					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GCACCCCTGGGAGTGGGCCTG	0.507													15	41					0	0	0	0	A	85909964	G	A	85909964	3	1	500	1	0	0	0	0	1	0	0	0	6421	1174	41	2	768	2	GHITM	10	85909964	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	35378805	85909964	49624783	58	96981											
PTEN	5728	broad.mit.edu	37	chr10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaactggtgtaatgataTgtgcatatttattacatcgg	12	14	10	5	2	0	1	0	1	0	0	1	3	0	1	0	2	3	2	0	2	6	6			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:89692922T>C	ENST00000371953.3	+	5	1763	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C136R(4)|p.I135fs*44(3)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			44	100					0	0	0	0	C	89692922	T	C	89692922	3	2	500	1	0	0	0	0	1	0	0	0	12817	1464	51	5	424	5	PTEN	10	89692922	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	3782958	89692922	45841825	59	96982											
HMX2	3167	broad.mit.edu	37	chr10	124909540	124909540	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcgctgctgcgcgtgccGgtgccgcgctcgctcgcctt	1	10	14	16	8	0	0	0	0	0	0	3	0	0	0	3	1	4	5	3	1	0	2	rs139853496		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:124909540G>A	ENST00000339992.3	+	2	980	c.723G>A	c.(721-723)ccG>ccA	p.P241P		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	241					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGCGCGTGCCGGTGCCGCGCT	0.647													3	12					0	0	0	0	A	124909540	G	A	124909540	2	1	500	1	0	0	0	0	0	0	0	1	7297	1103	39	1		1	HMX2	10	124909540	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	35216618	124909540	10625207	60	96983											
HBD	3045	broad.mit.edu	37	chr11	5254302	5254302	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgcgggccagcacacaCaccagcacattgcccaagag	13	4	10	14	1	0	1	0	0	0	1	0	1	0	1	3	1	4	3	3	1	2	2	rs143576561	by1000genomes	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:5254302C>A	ENST00000380299.3	-	3	550	c.336G>T	c.(334-336)gtG>gtT	p.V112V	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	112					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACACACACCAGCACAT	0.517													23	72					6.44725e-10	7.38748e-10	1	0	A	5254302	C	A	5254302	2	1	500	1	0	0	0	0	0	0	0	1	7029	465	17	4		4	HBD	11	5254302	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08		5254302	129752214	61	96984											
OR52E8	390079	broad.mit.edu	37	chr11	5878869	5878869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttctagccctgggatacCcagcagtaggaatgaagaag	13	8	11	9	0	2	2	0	1	2	1	2	4	2	4	2	2	3	2	2	2	6	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:5878869C>G	ENST00000537935.1	-	1	95	c.64G>C	c.(64-66)Ggt>Cgt	p.G22R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGGATACCCAGCAGTAGG	0.448													49	154					0	0	0	0	G	5878869	C	G	5878869	3	3	500	1	0	0	0	0	1	0	0	0	11189	623	22	4	891	4	OR52E8	11	5878869	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	624567	5878869	129127647	62	96985											
DCHS1	8642	broad.mit.edu	37	chr11	6653330	6653330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggctgtaggtcagacgtCcattgggtcctgagtctcgg	6	10	15	10	2	2	2	1	1	1	1	5	2	4	2	2	4	0	3	2	4	1	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:6653330C>A	ENST00000299441.3	-	6	3824	c.3413G>T	c.(3412-3414)gGa>gTa	p.G1138V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1138	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCAGACGTCCATTGGGTCC	0.602													8	20					3.09899e-07	3.43176e-07	1	0	A	6653330	C	A	6653330	3	1	500	1	0	0	0	0	1	0	0	0	4319	855	30	2	6547	2	DCHS1	11	6653330	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	774461	6653330	128353186	63	96986											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956130	18956130	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaagtctgctgcggccaAgttgaggatgtagatggaga	11	8	17	5	1	1	3	0	1	1	2	1	7	1	5	1	4	2	3	1	4	3	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:18956130A>T	ENST00000302797.3	-	1	426	c.202T>A	c.(202-204)Ttg>Atg	p.L68M	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	68					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGCGGCCAAGTTGAGGATG	0.537													6	209					0	0	0	0	T	18956130	A	T	18956130	3	4	500	1	0	0	0	0	1	0	0	0	9836	69	3	5	770	5	MRGPRX1	11	18956130	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	12302800	18956130	116050386	64	96987											
DBX1	120237	broad.mit.edu	37	chr11	20178009	20178009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgctgaggtccgggtgCggattgagcttggtgggcag	5	9	19	8	4	0	2	0	2	0	0	2	3	1	3	1	5	2	3	1	5	0	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:20178009C>T	ENST00000524983.2	-	4	1071	c.783G>A	c.(781-783)ccG>ccA	p.P261P	DBX1_ENST00000227256.3_Silent_p.P300P			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	261					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGTCCGGGTGCGGATTGAGCT	0.677													10	27					0	0	0	0	T	20178009	C	T	20178009	2	4	500	1	0	0	0	0	0	0	0	1	4292	755	27	1		1	DBX1	11	20178009	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	1221879	20178009	114828507	65	96988											
WT1	7490	broad.mit.edu	37	chr11	32456486	32456486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtttgatgaaggagtgagGcggcggcggcgggggtggcg	5	7	23	6	5	0	3	0	3	0	0	0	4	0	4	0	8	0	1	0	8	1	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:32456486G>T	ENST00000332351.3	-	1	690	c.406C>A	c.(406-408)Cct>Act	p.P136T	WT1_ENST00000448076.3_Missense_Mutation_p.P136T	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	68					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGGAGTGAggcggcggcggc	0.736			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				3	8					0.115264	0.115967	1	0	T	32456486	G	T	32456486	3	4	500	1	0	0	0	0	1	0	0	0	17504	1203	42	4	1187	4	WT1	11	32456486	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	12278477	32456486	102550030	66	96989											
CREB3L1	90993	broad.mit.edu	37	chr11	46337910	46337910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccttacaagatggccGccacccagactgggacctgc	10	5	10	16	1	0	3	0	0	0	3	0	4	0	4	6	2	2	0	6	2	2	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:46337910G>A	ENST00000529193.1	+	9	1556	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	CREB3L1_ENST00000534616.1_Intron|CREB3L1_ENST00000288400.3_Missense_Mutation_p.A369T			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	369					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAAGATGGCCGCCACCCAGAC	0.597			T	FUS	myxofibrosarcoma								3	10					0	0	0	0	A	46337910	G	A	46337910	3	1	500	1	0	0	0	0	1	0	0	0	3886	1087	38	1	1139	1	CREB3L1	11	46337910	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	13881424	46337910	88668606	67	96990											
OR4A15	81328	broad.mit.edu	37	chr11	55135920	55135920	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttcactcattggttcaAtttctctttatttatcagct	7	22	3	9	0	6	0	4	0	2	0	7	0	6	0	0	1	1	2	0	1	3	9			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:55135920A>T	ENST00000314706.3	+	1	561	c.561A>T	c.(559-561)caA>caT	p.Q187H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CATTGGTTCAATTTCTCTTTA	0.423													65	148					0	0	0	0	T	55135920	A	T	55135920	3	4	500	1	0	0	0	0	1	0	0	0	11111	98	4	5	563	5	OR4A15	11	55135920	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	8798010	55135920	79870596	68	96991											
MMP12	4321	broad.mit.edu	37	chr11	102737945	102737945	+	RNA	DEL	A	A	-																															attttccactgttttctgacAaaaaaaatttaaaggcagaa																								rs28381681		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTTTCTGACAAAAAAAATTT	0.338													3	4	---	---	---	---					-	102737945	A	-	102737945	6	5	500	0	1	1	0	1	0	0	0	0	9720	145	5	0		0	MMP12	11	102737945	RNA	DEL	A	TCGA-UF-A7JF-01A-11D-A34J-08	47602025	102737945	32268571	69	96992											
FLI1	2313	broad.mit.edu	37	chr11	128680581	128680581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattatgaccaaagtgcacGgcaaaagatatgcttacaaa	18	8	7	8	1	0	2	0	1	0	1	0	2	0	2	1	1	3	3	1	1	7	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:128680581G>T	ENST00000344954.6	+	9	1346	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C	FLI1_ENST00000281428.8_Missense_Mutation_p.G287C|FLI1_ENST00000525560.1_Missense_Mutation_p.G160C|FLI1_ENST00000429175.2_Missense_Mutation_p.G353C|FLI1_ENST00000534087.1_Missense_Mutation_p.G320C			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	353					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAAAGTGCACGGCAAAAGATA	0.502			T	EWSR1	Ewing sarcoma								16	38					8.00594e-06	8.63386e-06	1	0	T	128680581	G	T	128680581	3	4	500	1	0	0	0	0	1	0	0	0	5969	1116	39	3	1091	3	FLI1	11	128680581	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	25942636	128680581	6325935	70	96993											
KCNA6	3742	broad.mit.edu	37	chr12	4920787	4920787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagaaaagaatgctcaCggaggtctgacccatgcagg	13	6	13	9	1	2	3	1	1	1	2	2	5	2	4	1	3	3	3	1	3	3	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:4920787C>T	ENST00000433855.1	+	1	2446	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	KCNA6_ENST00000280684.3_Missense_Mutation_p.T527M	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	527						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AGAATGCTCACGGAGGTCTGA	0.557										HNSCC(72;0.22)			63	81					0	0	0	0	T	4920787	C	T	4920787	3	4	500	1	0	0	0	0	1	0	0	0	8060	536	19	1	1582	1	KCNA6	12	4920787	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08		4920787	128931108	71	96994											
ANO2	57101	broad.mit.edu	37	chr12	5744415	5744415	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgttgctgtcactgtcacCcggacattggagcgtgtagc	6	11	13	11	2	2	0	2	0	0	0	2	2	2	2	1	2	3	4	1	2	1	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:5744415C>G	ENST00000356134.5	-	18	1793	c.1722G>C	c.(1720-1722)cgG>cgC	p.R574R	ANO2_ENST00000546188.1_Silent_p.R574R|ANO2_ENST00000327087.8_Silent_p.R573R	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	578						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCACTGTCACCCGGACATTGG	0.507													12	59					0	0	0	0	G	5744415	C	G	5744415	2	3	500	1	0	0	0	0	0	0	0	1	696	610	22	4		4	ANO2	12	5744415	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	823628	5744415	128107480	72	96995											
NCAPD2	9918	broad.mit.edu	37	chr12	6618931	6618931	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctggctatgctgcagcActttgatactatctacagca	9	11	8	13	0	1	1	0	1	1	0	1	1	1	1	2	1	6	5	2	1	4	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:6618931A>C	ENST00000315579.5	+	3	975	c.176A>C	c.(175-177)cAc>cCc	p.H59P	NCAPD2_ENST00000545962.1_Missense_Mutation_p.T34P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	59	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			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						ATGCTGCAGCACTTTGATACT	0.433													50	188					0	0	0	0	C	6618931	A	C	6618931	3	2	500	1	0	0	0	0	1	0	0	0	10275	159	6	5	182	5	NCAPD2	12	6618931	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	874516	6618931	127232964	73	96996											
FAM90A1	55138	broad.mit.edu	37	chr12	8374480	8374480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtcctcatagaggaCgcttggtgggacacgaacac	11	7	13	10	2	1	2	1	1	0	1	2	5	2	4	1	4	1	1	1	4	3	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:8374480C>T	ENST00000538603.1	-	7	1891	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	FAM90A1_ENST00000307435.6_Missense_Mutation_p.V445I	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	445							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCATAGAGGACGCTTGGTGGG	0.602													7	111					0	0	0	0	T	8374480	C	T	8374480	3	4	500	1	0	0	0	0	1	0	0	0	5695	536	19	1	65	1	FAM90A1	12	8374480	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	1755549	8374480	125477415	74	96997											
RARG	5916	broad.mit.edu	37	chr12	53608237	53608237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccattcctcaccgtggtaTacttgcccagctggcagagc	7	9	10	15	1	1	1	1	0	0	1	2	1	2	1	4	2	4	3	4	2	2	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:53608237T>C	ENST00000425354.2	-	6	1116	c.629A>G	c.(628-630)tAt>tGt	p.Y210C	RARG_ENST00000394426.1_Missense_Mutation_p.Y210C|RARG_ENST00000338561.5_Missense_Mutation_p.Y199C|RARG_ENST00000327550.3_Missense_Mutation_p.Y138C|RARG_ENST00000543726.1_Missense_Mutation_p.Y188C|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	210	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACCGTGGTATACTTGCCCAG	0.572													25	51					0	0	0	0	C	53608237	T	C	53608237	3	2	500	1	0	0	0	0	1	0	0	0	13136	1406	49	5	755	5	RARG	12	53608237	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	45233757	53608237	80243658	75	96998											
LEMD3	23592	broad.mit.edu	37	chr12	65633925	65633925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatttttagatgttttacGaagtcataatgaagcctgcc	11	17	7	6	1	1	2	1	1	0	1	1	3	1	2	2	0	3	1	2	0	6	8			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:65633925G>A	ENST00000308330.2	+	8	2059	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	678					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GATGTTTTACGAAGTCATAAT	0.328													28	76					0	0	0	0	A	65633925	G	A	65633925	3	1	500	1	0	0	0	0	1	0	0	0	8774	1058	37	1	2063	1	LEMD3	12	65633925	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	12025688	65633925	68217970	76	96999											
TMTC2	160335	broad.mit.edu	37	chr12	83424619	83424619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcttcttgaaggctattGagctggatcccaccaaagga	11	10	10	10	0	2	2	0	2	2	0	3	4	3	4	2	3	2	3	2	3	3	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:83424619G>C	ENST00000549919.1	+	10	3900	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	TMTC2_ENST00000321196.3_Missense_Mutation_p.E705Q			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	705						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAAGGCTATTGAGCTGGATCC	0.403													22	73					0	0	0	0	C	83424619	G	C	83424619	3	2	500	1	0	0	0	0	1	0	0	0	16355	1291	45	2	2147	2	TMTC2	12	83424619	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	17790694	83424619	50427276	77	97000											
LUM	4060	broad.mit.edu	37	chr12	91502099	91502099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaatactcatcagggaTgttgctgatcttattgttgt	9	17	9	6	0	3	2	2	2	1	0	3	3	3	3	0	1	2	3	0	1	3	6			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:91502099T>A	ENST00000266718.4	-	2	1112	c.658A>T	c.(658-660)Atc>Ttc	p.I220F	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	220					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCATCAGGGATGTTGCTGATC	0.413													36	87					0	0	0	0	A	91502099	T	A	91502099	3	1	500	1	0	0	0	0	1	0	0	0	9149	1464	51	5	366	5	LUM	12	91502099	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	8077480	91502099	42349796	78	97001											
METAP2	10988	broad.mit.edu	37	chr12	95869846	95869846	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctattttattttgatcaGcaggggaacaggaacctgat	11	13	10	7	0	1	2	1	2	0	0	1	4	1	4	1	3	4	2	1	3	4	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:95869846G>A	ENST00000323666.5	+	2	380		c.e2-1		METAP2_ENST00000551840.1_Intron|METAP2_ENST00000261220.9_Intron|METAP2_ENST00000550777.1_Intron|METAP2_ENST00000546753.1_Splice_Site	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2						N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	ATTTTGATCAGCAGGGGAACA	0.378													16	26					0	0	0	0	A	95869846	G	A	95869846	5	1	500	1	0	0	0	0	0	0	1	0	9556	985	34	4	157	4	METAP2	12	95869846	Splice_Site	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	4367747	95869846	37982049	79	97002											
DHX37	57647	broad.mit.edu	37	chr12	125438655	125438655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagcaccatgaggtcgccGagcttcagagaagccccctg	10	5	12	14	2	1	2	1	1	0	1	2	4	1	2	4	1	4	3	4	1	1	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:125438655G>A	ENST00000308736.2	-	19	2654	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L	DHX37_ENST00000544745.1_Silent_p.L639L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	852							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L852L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGAGGTCGCCGAGCTTCAGAG	0.672													19	22					0	0	0	0	A	125438655	G	A	125438655	2	1	500	1	0	0	0	0	0	0	0	1	4547	1045	37	1		1	DHX37	12	125438655	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	29568809	125438655	8413240	80	97003											
MLNR	2862	broad.mit.edu	37	chr13	49796314	49796314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaacttttctatctgaGcgcatctatcaacccaatcc	10	13	4	14	1	5	1	1	1	4	0	6	1	6	1	2	0	4	2	2	0	5	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr13:49796314G>A	ENST00000218721.1	+	2	1040	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	347					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TTCTATCTGAGCGCATCTATC	0.468													98	255					0	0	0	0	A	49796314	G	A	49796314	3	1	500	1	0	0	0	0	1	0	0	0	9701	971	34	4	1046	4	MLNR	13	49796314	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		49796314	65373564	81	97004											
ABCC4	10257	broad.mit.edu	37	chr13	95727694	95727694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatagacagacctgaatgtAaatcctggtgtgcatcaaac	16	9	8	8	0	1	3	1	1	0	2	2	3	2	3	2	1	2	2	2	1	6	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr13:95727694A>G	ENST00000376887.4	-	22	2912	c.2798T>C	c.(2797-2799)tTa>tCa	p.L933S	ABCC4_ENST00000412704.1_Missense_Mutation_p.L886S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	933	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACCTGAATGTAAATCCTGGTG	0.483													60	113					0	0	0	0	G	95727694	A	G	95727694	3	3	500	1	0	0	0	0	1	0	0	0	55	372	13	5	1219	5	ABCC4	13	95727694	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08	45931380	95727694	19442184	82	97005											
POMT2	29954	broad.mit.edu	37	chr14	77786985	77786985	+	Missense_Mutation	SNP	G	G	T																															gcggcccctccggggacgcaGctcggactctgccaggcctc																										TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:77786985G>T	ENST00000261534.4	-	1	242	c.40C>A	c.(40-42)Ctg>Atg	p.L14M		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	14					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CGGGGACGCAGCTCGGACTCT	0.751													7	16					1	1	1	0	T	77786985	G	T	77786985	3	4	500	1	0	0	0	0	1	0	0	0	12318	962	34	4	2296	4	POMT2	14	77786985	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		77786985	29562555	83	97006	1159	2									
POMT2	29954	broad.mit.edu	37	chr14	77786986	77786986	+	Silent	SNP	C	C	T																															cggcccctccggggacgcagCtcggactctgccaggcctcc																										TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:77786986C>T	ENST00000261534.4	-	1	241	c.39G>A	c.(37-39)gaG>gaA	p.E13E		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	13					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGGGACGCAGCTCGGACTCTG	0.751													7	17					0	0	0	0	T	77786986	C	T	77786986	2	4	500	1	0	0	0	0	0	0	0	1	12318	796	28	4		4	POMT2	14	77786986	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	1	77786986	29562554	84	97007	1159	2									
SERPINA9	327657	broad.mit.edu	37	chr14	94933514	94933514	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgttccagttgcctcatCttgcccttgctagggaggac	5	12	11	13	0	2	0	1	0	1	0	3	2	3	2	4	2	3	3	4	2	1	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:94933514C>G	ENST00000337425.5	-	3	962	c.888G>C	c.(886-888)aaG>aaC	p.K296N	SERPINA9_ENST00000298845.7_Missense_Mutation_p.K196N|SERPINA9_ENST00000424550.2_Missense_Mutation_p.K147N|SERPINA9_ENST00000380365.3_Missense_Mutation_p.K278N|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K198N|SERPINA9_ENST00000546329.1_Missense_Mutation_p.K260N	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	278					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			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)		GTTGCCTCATCTTGCCCTTGC	0.532													24	54					0	0	0	0	G	94933514	C	G	94933514	3	3	500	1	0	0	0	0	1	0	0	0	14182	912	32	2	431	2	SERPINA9	14	94933514	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	17146528	94933514	12416026	85	97008											
CLMN	79789	broad.mit.edu	37	chr14	95670747	95670747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaggagtttctttgatGcgaacaaaagtggattcgat	13	12	11	5	2	2	2	1	1	1	1	3	6	2	4	0	2	2	1	0	2	4	3	rs116066710	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:95670747G>A	ENST00000298912.4	-	9	1052	c.939C>T	c.(937-939)cgC>cgT	p.R313R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	313						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTTCTTTGATGCGAACAAAAG	0.378													28	89					0	0	0	0	A	95670747	G	A	95670747	2	1	500	1	0	0	0	0	0	0	0	1	3572	1306	46	4		4	CLMN	14	95670747	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	737233	95670747	11678793	86	97009											
RYR3	6263	broad.mit.edu	37	chr15	33990140	33990140	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctcatgagagtcctgggCatgcacgagacggtgatgga	11	7	14	9	2	1	3	1	2	0	2	2	6	2	4	2	3	2	2	2	3	1	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr15:33990140C>G	ENST00000389232.4	+	40	6262	c.6192C>G	c.(6190-6192)ggC>ggG	p.G2064G	RYR3_ENST00000415757.3_Silent_p.G2064G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2064	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGTCCTGGGCATGCACGAGA	0.468													29	87					0	0	0	0	G	33990140	C	G	33990140	2	3	500	1	0	0	0	0	0	0	0	1	13855	697	25	4		4	RYR3	15	33990140	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08		33990140	68541252	87	97010											
PRKCB	5579	broad.mit.edu	37	chr16	23847620	23847620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccacaaattcaccgccCgcttcttcaagcagcccacc	12	6	5	18	2	3	1	2	0	1	1	3	1	3	1	5	0	3	2	5	0	3	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr16:23847620C>T	ENST00000303531.7	+	1	276	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	PRKCB_ENST00000321728.7_Missense_Mutation_p.R42C|PRKCB_ENST00000498058.1_Missense_Mutation_p.R42C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	42					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATTCACCGCCCGCTTCTTCAA	0.687													13	203					0	0	0	0	T	23847620	C	T	23847620	3	4	500	1	0	0	0	0	1	0	0	0	12588	652	23	1	126	1	PRKCB	16	23847620	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08		23847620	66507133	88	97011											
TNFSF13	8741	broad.mit.edu	37	chr17	7463379	7463379	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccagatgactccgatgtGacagaggtgatgtggcaacc	10	8	12	11	1	0	5	0	3	0	2	2	6	2	5	4	2	1	1	4	2	1	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7463379G>A	ENST00000349228.4	+	3	915	c.351G>A	c.(349-351)gtG>gtA	p.V117V	TNFSF13_ENST00000338784.4_Silent_p.V133V|TNFSF13_ENST00000380535.4_Silent_p.V105V|TNFSF12_ENST00000557233.1_Silent_p.V213V|TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.V213V|TNFSF13_ENST00000396542.1_Silent_p.V88V|TNFSF13_ENST00000396545.4_Silent_p.V133V|TNFSF13_ENST00000483039.1_5'UTR	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				ACTCCGATGTGACAGAGGTGA	0.517											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	71					0	0	0	0	A	7463379	G	A	7463379	2	1	500	1	0	0	0	0	0	0	0	1	16399	1277	45	2		2	TNFSF13	17	7463379	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		7463379	73731831	89	97012											
TP53	7157	broad.mit.edu	37	chr17	7578254	7578254	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactccacacgcaaatttcCttccactcggataagatgct	12	11	5	13	2	0	1	0	0	0	1	4	2	3	2	3	1	2	2	3	1	3	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7578254C>A	ENST00000420246.2	-	6	727	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TP53_ENST00000445888.2_Nonsense_Mutation_p.G199*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G199*|TP53_ENST00000413465.2_Nonsense_Mutation_p.G199*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G199*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.G199*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G199R(9)|p.0?(8)|p.?(5)|p.G199*(3)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(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)		CGCAAATTTCCTTCCACTCGG	0.547		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)			16	45					1.99824e-07	2.22776e-07	1	0	A	7578254	C	A	7578254	4	1	500	1	0	0	0	0	0	1	0	0	16476	690	24	4	699	4	TP53	17	7578254	Nonsense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	114875	7578254	73616956	90	97013											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617		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)			34	69					1.26612e-14	1.51384e-14	1	0	A	7578461	C	A	7578461	3	1	500	1	0	0	0	0	1	0	0	0	16476	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	207	7578461	73616749	91	97014											
STAT5B	6777	broad.mit.edu	37	chr17	40370209	40370209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagagacttggcctgctGctcactgatgatggtggcct	7	10	14	10	0	1	3	1	2	0	1	1	5	1	3	2	3	3	3	2	3	0	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:40370209G>T	ENST00000293328.3	-	9	1297	c.1129C>A	c.(1129-1131)Cag>Aag	p.Q377K		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	377					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TTGGCCTGCTGCTCACTGATG	0.562													16	28					3.45872e-05	3.68186e-05	1	0	T	40370209	G	T	40370209	3	4	500	1	0	0	0	0	1	0	0	0	15359	1328	46	4	1278	4	STAT5B	17	40370209	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	32791748	40370209	40825001	92	97015											
MAP3K14	9020	broad.mit.edu	37	chr17	43368002	43368003	+	RNA	DEL	CT	CT	-																															cctcaagcttgtagacggagCtctgtttcttccccagtggc																										TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:43368002_43368003delCT	ENST00000344686.2	-	0	217_218							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTAGACGGAGCTCTGTTTCTTC	0.589													23	66	---	---	---	---					-	43368003	CT	-	43368002	6	5	500	0	1	1	0	1	0	0	0	0	9317	797	28	0		0	MAP3K14	17	43368002	RNA	DEL	CT	TCGA-UF-A7JF-01A-11D-A34J-08	2997793	43368002	37827208	93	97016											
WNT3	7473	broad.mit.edu	37	chr17	44851059	44851059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggacgggcccaaagatGgccaggctgtcatctatggt	9	8	14	10	2	2	1	1	0	1	1	3	3	2	2	2	5	0	1	2	5	2	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:44851059G>A	ENST00000225512.5	-	2	459	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	99					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCCAAAGATGGCCAGGCTGT	0.672													18	23					0	0	0	0	A	44851059	G	A	44851059	2	1	500	1	0	0	0	0	0	0	0	1	17484	1335	47	4		4	WNT3	17	44851059	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	1483057	44851059	36344151	94	97017											
SGSH	6448	broad.mit.edu	37	chr17	78184602	78184602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagttgaggttgtgcacGaggcggaagtgccggtgctg	7	10	18	6	3	0	2	0	2	0	0	0	4	0	3	1	4	3	4	1	4	2	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:78184602G>A	ENST00000326317.6	-	8	1244	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	SGSH_ENST00000534910.1_Silent_p.L183L	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	386			L -> R (in MPS3A).		proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	p.L386L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTTGTGCACGAGGCGGAAGT	0.627													36	70					0	0	0	0	A	78184602	G	A	78184602	2	1	500	1	0	0	0	0	0	0	0	1	14308	1045	37	1		1	SGSH	17	78184602	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	33333543	78184602	3010608	95	97018											
PTPRM	5797	broad.mit.edu	37	chr18	8248168	8248168	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccatttgtgccaactgcaAttttaggtgagaacatttcc	11	13	7	10	0	0	1	0	1	0	1	1	2	1	1	3	1	4	1	3	1	4	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:8248168A>G	ENST00000580170.1	+	17	3585	c.2548A>G	c.(2548-2550)Att>Gtt	p.I850V	PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000400060.4_Missense_Mutation_p.I850V|PTPRM_ENST00000332175.8_Intron	NM_001105244.1	NP_001098714.1	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	842					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCAACTGCAATTTTAGGTGA	0.388													153	128					0	0	0	0	G	8248168	A	G	8248168	3	3	500	1	0	0	0	0	1	0	0	0	12888	101	4	5	2614	5	PTPRM	18	8248168	Missense_Mutation	SNP	A	TCGA-UF-A7JF-01A-11D-A34J-08		8248168	69829080	96	97019											
ZNF519	162655	broad.mit.edu	37	chr18	14106177	14106177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcttctgaaatattctaTattctttgtctcctttcaca	8	20	3	10	0	6	1	1	1	5	0	7	1	6	1	1	0	0	1	1	0	4	9			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:14106177T>C	ENST00000590202.1	-	3	514	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAATATTCTATATTCTTTGTC	0.318													45	41					0	0	0	0	C	14106177	T	C	14106177	3	2	500	1	0	0	0	0	1	0	0	0	18059	1406	49	5	1264	5	ZNF519	18	14106177	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	5858009	14106177	63971071	97	97020											
KLHL14	57565	broad.mit.edu	37	chr18	30260493	30260493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccacgctggacaagtaGccagtttcattccttccacc	9	10	6	16	1	1	0	1	0	0	0	4	1	4	1	5	1	1	3	5	1	2	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:30260493G>A	ENST00000359358.4	-	6	1746	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	436						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGGACAAGTAGCCAGTTTCAT	0.473													7	42					0	0	0	0	A	30260493	G	A	30260493	2	1	500	1	0	0	0	0	0	0	0	1	8422	958	34	4		4	KLHL14	18	30260493	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	16154316	30260493	47816755	98	97021											
ST8SIA5	29906	broad.mit.edu	37	chr18	44272161	44272161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcctcagagatgttcatCgcccatttgcacatctggag	8	12	10	11	1	3	1	2	0	1	1	4	3	3	2	2	2	1	2	2	2	0	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:44272161C>T	ENST00000315087.7	-	3	942	c.282G>A	c.(280-282)gcG>gcA	p.A94A	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.A63A|ST8SIA5_ENST00000538168.1_Silent_p.A130A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGATGTTCATCGCCCATTTGC	0.517													14	61					0	0	0	0	T	44272161	C	T	44272161	2	4	500	1	0	0	0	0	0	0	0	1	15325	871	31	1		1	ST8SIA5	18	44272161	Silent	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	14011668	44272161	33805087	99	97022											
MC4R	4160	broad.mit.edu	37	chr18	58039270	58039270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtactgtttaatagggTgatgacaatggtttctgatc	10	16	10	5	0	2	3	0	3	2	0	3	3	2	3	0	2	1	3	0	2	4	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:58039270T>C	ENST00000299766.3	-	1	731	c.313A>G	c.(313-315)Acc>Gcc	p.T105A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	105					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TTTAATAGGGTGATGACAATG	0.423													19	103					0	0	0	0	C	58039270	T	C	58039270	3	2	500	1	0	0	0	0	1	0	0	0	9435	1696	59	5	689	5	MC4R	18	58039270	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	13767109	58039270	20037978	100	97023											
KDSR	2531	broad.mit.edu	37	chr18	61002491	61002491	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcctaggcagagcttaccTgctggagcccctcagtaata	10	9	10	12	0	1	1	1	0	0	1	1	2	1	2	4	2	5	4	4	2	5	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:61002491T>G	ENST00000406396.3	-	9	1269	c.879_splice	c.e9+1	p.Q293_splice	KDSR_ENST00000326575.5_Splice_Site_p.Q229_splice|KDSR_ENST00000589592.1_5'UTR	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	293					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGAGCTTACCTGCTGGAGCCC	0.488													14	31					0	0	0	0	G	61002491	T	G	61002491	5	3	500	1	0	0	0	0	0	0	1	0	8192	1594	55	5	128	5	KDSR	18	61002491	Splice_Site	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	2963221	61002491	17074757	101	97024											
DSEL	92126	broad.mit.edu	37	chr18	65179227	65179228	+	Frame_Shift_Ins	INS	-	-	A																															agagaaaatcactactgttgINSaaaaaaagttgtttgagaat																										TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:65179227_65179228insA	ENST00000310045.7	-	2	4121_4122	c.2648_2649insT	c.(2647-2649)taafs	p.*883fs	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	873						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CACTACTGTTGAAAAAAAGTTG	0.401													36	179	---	---	---	---					A	65179228	-	A	65179227	7	5	500	1	0	1	1	0	0	0	0	0	4811	1281	45	0	1023	0	DSEL	18	65179227	Frame_Shift_Ins	INS	-	TCGA-UF-A7JF-01A-11D-A34J-08	4176736	65179227	12898021	102	97025											
PTPRS	5802	broad.mit.edu	37	chr19	5221131	5221131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtccaggcggtgaccGtctgctggaggccgcccagg	6	5	17	13	3	1	1	0	1	1	0	2	2	2	2	4	6	1	2	4	6	0	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:5221131G>A	ENST00000372412.4	-	20	3571	c.3338C>T	c.(3337-3339)aCg>aTg	p.T1113M	PTPRS_ENST00000262963.6_Missense_Mutation_p.T1108M|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1112M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1112M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T681M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1090M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T681M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1090M			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1112	Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGGTGACCGTCTGCTGGAG	0.617													44	84					0	0	0	0	A	5221131	G	A	5221131	3	1	500	1	0	0	0	0	1	0	0	0	12893	1145	40	1	2587	1	PTPRS	19	5221131	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		5221131	53907852	103	97026											
KANK3	256949	broad.mit.edu	37	chr19	8389896	8389896	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaccacagccatgtccTcctcttcctgcctcacagag	7	10	7	17	0	3	1	1	0	2	1	6	2	6	2	6	1	2	0	6	1	0	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:8389896T>A	ENST00000330915.3	-	8	2086	c.2021A>T	c.(2020-2022)gAg>gTg	p.E674V	KANK3_ENST00000593649.1_Missense_Mutation_p.E674V	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	674										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGCCATGTCCTCCTCTTCCTG	0.632													27	49					0	0	0	0	A	8389896	T	A	8389896	3	1	500	1	0	0	0	0	1	0	0	0	8031	1551	54	5	460	5	KANK3	19	8389896	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	3168765	8389896	50739087	104	97027											
KEAP1	9817	broad.mit.edu	37	chr19	10600002	10600002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagctggtcctgaccatcaTagcccccagcagcatagata	11	8	8	14	0	2	2	2	1	0	1	3	2	3	2	4	1	4	3	4	1	3	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:10600002T>C	ENST00000171111.5	-	5	2121	c.1574A>G	c.(1573-1575)tAt>tGt	p.Y525C	KEAP1_ENST00000393623.2_Missense_Mutation_p.Y525C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTGACCATCATAGCCCCCAGC	0.597													11	36					0	0	0	0	C	10600002	T	C	10600002	3	2	500	1	0	0	0	0	1	0	0	0	8193	1406	49	5	308	5	KEAP1	19	10600002	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	2210106	10600002	48528981	105	97028											
KEAP1	9817	broad.mit.edu	37	chr19	10610310	10610310	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgaattcaatgaggcgctCcatgaccttggggtggatac	9	9	14	9	2	1	2	1	2	0	0	2	4	2	3	2	5	1	1	2	5	3	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:10610310C>A	ENST00000171111.5	-	2	947	c.400G>T	c.(400-402)Gag>Tag	p.E134*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E134*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	134	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATGAGGCGCTCCATGACCTTG	0.587													12	41					0.010729	0.0109277	1	0	A	10610310	C	A	10610310	4	1	500	1	0	0	0	0	0	1	0	0	8193	864	30	2	1494	2	KEAP1	19	10610310	Nonsense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	10308	10610310	48518673	106	97029											
PSG7	5676	broad.mit.edu	37	chr19	43428907	43428907	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctggaacagagtgggtCttgctctttgaggttccatg	6	14	13	8	0	3	2	0	1	3	1	4	3	4	3	1	3	2	3	1	3	1	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:43428907C>T	ENST00000406070.2	-	0	1409					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				cagagtgggtcttgctctttg	0.418													13	58					0	0	0	0	T	43428907	C	T	43428907	1	4	500	0	1	0	0	0	0	0	0	0	12739	928	32	2		2	PSG7	19	43428907	RNA	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	32818597	43428907	15700076	107	97030											
SYMPK	8189	broad.mit.edu	37	chr19	46329491	46329491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgcccaacctgtgtcCttgtcagctccaaacagcac	9	9	7	16	0	1	0	1	0	0	0	3	0	3	0	5	0	5	2	5	0	2	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:46329491C>A	ENST00000245934.7	-	17	2566	c.2322G>T	c.(2320-2322)aaG>aaT	p.K774N		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	774					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			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)		AACCTGTGTCCTTGTCAGCTC	0.597													6	18					0.00116845	0.00122021	1	0	A	46329491	C	A	46329491	3	1	500	1	0	0	0	0	1	0	0	0	15530	680	24	4	1546	4	SYMPK	19	46329491	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	2900584	46329491	12799492	108	97031											
ZNF160	90338	broad.mit.edu	37	chr19	53572344	53572344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctgcattcattgcatttGaaaggttttgttccagtatg	8	18	9	6	0	1	1	1	1	0	0	2	1	2	1	1	1	3	6	1	1	2	8			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:53572344G>C	ENST00000601421.1	-	3	2211	c.1335C>G	c.(1333-1335)ttC>ttG	p.F445L	ZNF160_ENST00000599056.1_Missense_Mutation_p.F481L|ZNF160_ENST00000429604.1_Missense_Mutation_p.F481L|ZNF160_ENST00000418871.1_Missense_Mutation_p.F481L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	481					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CATTGCATTTGAAAGGTTTTG	0.393													55	141					0	0	0	0	C	53572344	G	C	53572344	3	2	500	1	0	0	0	0	1	0	0	0	17834	1281	45	2	1017	2	ZNF160	19	53572344	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	7242853	53572344	5556639	109	97032											
ZNF761	388561	broad.mit.edu	37	chr19	53945872	53945872	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagatgtagaatgccccagtCccaccctgctgctgctcctt	7	10	9	15	0	0	2	0	0	0	2	2	3	2	2	5	0	4	4	5	0	2	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:53945872C>G	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCCCCAGTCCCACCCTGCT	0.532													10	57					0	0	0	0	G	53945872	C	G	53945872	1	3	500	0	1	0	0	0	0	0	0	0	18230	870	30	2		2	ZNF761	19	53945872	RNA	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	373528	53945872	5183111	110	97033											
NLRP5	126206	broad.mit.edu	37	chr19	56539103	56539103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaaacgctcacaggcctgCacgccgcttttgtgtttcat	8	11	8	14	3	2	0	2	0	0	0	2	0	2	0	3	1	2	4	3	1	1	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:56539103C>G	ENST00000390649.3	+	7	1504	c.1504C>G	c.(1504-1506)Cac>Gac	p.H502D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	502	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACAGGCCTGCACGCCGCTTT	0.637													11	36					0	0	0	0	G	56539103	C	G	56539103	3	3	500	1	0	0	0	0	1	0	0	0	10550	710	25	4	1530	4	NLRP5	19	56539103	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	2593231	56539103	2589880	111	97034											
ZNF329	79673	broad.mit.edu	37	chr19	58639245	58639245	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcatgtggcccccaaccaTtatgtttccatgggttgctc	7	13	8	13	0	1	0	1	0	0	0	3	0	2	0	4	2	2	3	4	2	2	3			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:58639245T>C	ENST00000598312.1	-	4	1859	c.1626A>G	c.(1624-1626)taA>taG	p.*542*	ZNF329_ENST00000358067.4_Silent_p.*542*	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CCCCCAACCATTATGTTTCCA	0.493													57	109					0	0	0	0	C	58639245	T	C	58639245	2	2	500	1	0	0	0	0	0	0	0	1	17942	1500	52	5		5	ZNF329	19	58639245	Silent	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	2100142	58639245	489738	112	97035											
ARFGEF2	10564	broad.mit.edu	37	chr20	47614970	47614971	+	Frame_Shift_Ins	INS	-	-	T																															agaagattgtggagatatcaINStactacaacatgaatcggat																										TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr20:47614970_47614971insT	ENST00000371917.4	+	25	3360_3361	c.3360_3361insT	c.(3358-3363)tcactafs	p.L1121fs	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1121					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGAGATATCATACTACAACAT	0.446													66	116	---	---	---	---					T	47614971	-	T	47614970	7	5	500	1	0	1	1	0	0	0	0	0	855	204	8	0	3458	0	ARFGEF2	20	47614970	Frame_Shift_Ins	INS	-	TCGA-UF-A7JF-01A-11D-A34J-08		47614970	15410550	113	97036											
BHLHE23	128408	broad.mit.edu	37	chr20	61637728	61637728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcccgtccagcgcgtcGtttaggtcgtgcatgcgccg	4	8	14	15	8	0	0	0	0	0	0	3	0	1	0	3	1	4	3	3	1	1	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr20:61637728G>T	ENST00000370346.2	-	1	659	c.351C>A	c.(349-351)aaC>aaA	p.N117K		NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	117	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						CCAGCGCGTCGTTTAGGTCGT	0.711													8	28					0.00307968	0.00319589	1	0	T	61637728	G	T	61637728	3	4	500	1	0	0	0	0	1	0	0	0	1427	1136	40	3	330	3	BHLHE23	20	61637728	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	14022758	61637728	1387792	114	97037											
DSCAM	1826	broad.mit.edu	37	chr21	41514551	41514551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattccattcaaggcttcctTggaaagtgtggaccaggata	12	11	10	8	0	1	0	1	0	0	0	3	3	3	3	3	4	0	1	3	4	4	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr21:41514551T>C	ENST00000400454.1	-	18	3817	c.3340A>G	c.(3340-3342)Aag>Gag	p.K1114E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1114	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGGCTTCCTTGGAAAGTGTG	0.458													43	90					0	0	0	0	C	41514551	T	C	41514551	3	2	500	1	0	0	0	0	1	0	0	0	4804	1821	63	5	2762	5	DSCAM	21	41514551	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08		41514551	6615344	115	97038											
CCT8L2	150160	broad.mit.edu	37	chr22	17072765	17072765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgcccacagagcttccCagatattgctaaccccggga	10	9	8	14	1	0	2	0	0	0	2	1	3	1	3	4	1	4	2	4	1	2	5			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:17072765C>A	ENST00000359963.3	-	1	935	c.676G>T	c.(676-678)Ggg>Tgg	p.G226W		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	226					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGAGCTTCCCAGATATTGCT	0.607													30	104					6.38683e-12	7.47395e-12	1	0	A	17072765	C	A	17072765	3	1	500	1	0	0	0	0	1	0	0	0	2990	594	21	4	1001	4	CCT8L2	22	17072765	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08		17072765	34231801	116	97039											
GAB4	128954	broad.mit.edu	37	chr22	17469020	17469020	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctcagctggagaagagcaGaggccgtgactggctgagga	10	5	18	8	1	1	5	1	2	0	3	1	7	1	6	1	5	2	4	1	5	1	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:17469020G>C	ENST00000400588.1	-	3	623	c.516C>G	c.(514-516)ctC>ctG	p.L172L	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	172										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GAGAAGAGCAGAGGCCGTGAC	0.572													5	12					0	0	0	0	C	17469020	G	C	17469020	2	2	500	1	0	0	0	0	0	0	0	1	6199	929	33	2		2	GAB4	22	17469020	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	396255	17469020	33835546	117	97040											
SREBF2	6721	broad.mit.edu	37	chr22	42264705	42264705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagacagtacaggcccagcGggtgctgacacaaacggcca	12	3	13	13	2	0	2	0	1	0	1	0	2	0	2	2	3	4	3	2	3	2	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:42264705G>A	ENST00000361204.4	+	3	795	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	210	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGGCCCAGCGGGTGCTGACA	0.617													46	21					0	0	0	0	A	42264705	G	A	42264705	3	1	500	1	0	0	0	0	1	0	0	0	15232	1116	39	1	639	1	SREBF2	22	42264705	Missense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	24795685	42264705	9039861	118	97041											
PHF21B	112885	broad.mit.edu	37	chr22	45309885	45309885	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggacagtgatggggaGggaggggtgaggggaagaga	12	3	25	1	0	0	3	0	2	0	1	0	9	0	7	0	9	0	0	0	9	2	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:45309885G>C	ENST00000313237.5	-	5	798	c.648C>G	c.(646-648)ccC>ccG	p.P216P	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	216							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gtgatggggagggaggggtga	0.642													31	17					0	0	0	0	C	45309885	G	C	45309885	2	2	500	1	0	0	0	0	0	0	0	1	11906	987	35	4		4	PHF21B	22	45309885	Silent	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08	3045180	45309885	5994681	119	97042											
MSL3	10943	broad.mit.edu	37	chrX	11790285	11790285	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttccaggtcctctcctGgaagcttgtgcctgacaatt	6	15	8	12	0	1	1	0	1	1	0	4	2	3	2	4	2	2	1	4	2	2	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:11790285G>A	ENST00000380693.3	+	10	1431	c.794G>A	c.(793-795)tGg>tAg	p.W265*	MSL3_ENST00000398527.2_Nonsense_Mutation_p.W419*|MSL3_ENST00000361672.2_Nonsense_Mutation_p.W282*|MSL3_ENST00000312196.4_Nonsense_Mutation_p.W431*	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	431					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GTCCTCTCCTGGAAGCTTGTG	0.448													83	50					0	0	0	0	A	11790285	G	A	11790285	4	1	500	1	0	0	0	0	0	1	0	0	9949	1357	47	4	1414	4	MSL3	23	11790285	Nonsense_Mutation	SNP	G	TCGA-UF-A7JF-01A-11D-A34J-08		11790285	143480275	120	97043											
MAP3K15	389840	broad.mit.edu	37	chrX	19443725	19443725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgggccagcatgctgaCgctgaagaactgacccacat	12	7	10	12	1	1	4	1	3	0	1	1	4	1	4	2	1	3	3	2	1	2	0			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:19443725C>T	ENST00000338883.4	-	9	1362	c.1363G>A	c.(1363-1365)Gtc>Atc	p.V455I	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.V287I|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	455							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCATGCTGACGCTGAAGAAC	0.478													13	6					0	0	0	0	T	19443725	C	T	19443725	3	4	500	1	0	0	0	0	1	0	0	0	9318	536	19	1	2662	1	MAP3K15	23	19443725	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	7653440	19443725	135826835	121	97044											
MAP7D2	256714	broad.mit.edu	37	chrX	20062588	20062588	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttcgagtgggtgaagacTtgtaagaagggttaagaggg	11	11	17	2	1	0	4	0	1	0	3	1	5	0	4	0	3	0	3	0	3	4	4			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:20062588T>A	ENST00000379651.3	-	6	668	c.650A>T	c.(649-651)aAg>aTg	p.K217M	MAP7D2_ENST00000452324.3_Missense_Mutation_p.K165M|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K172M|MAP7D2_ENST00000379643.5_Missense_Mutation_p.K258M|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K102M	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	217										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGTGAAGACTTGTAAGAAGG	0.463													64	37					0	0	0	0	A	20062588	T	A	20062588	3	1	500	1	0	0	0	0	1	0	0	0	9337	1609	56	5	1588	5	MAP7D2	23	20062588	Missense_Mutation	SNP	T	TCGA-UF-A7JF-01A-11D-A34J-08	618863	20062588	135207972	122	97045											
TEX11	56159	broad.mit.edu	37	chrX	69811633	69811633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattatggatgtcattgCatgtctggatctcctcaagt	10	14	10	7	0	4	0	2	0	2	0	5	3	4	3	1	3	1	1	1	3	3	2			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:69811633C>A	ENST00000395889.2	-	26	2308	c.2153G>T	c.(2152-2154)tGc>tTc	p.C718F	TEX11_ENST00000374320.2_Missense_Mutation_p.C393F|TEX11_ENST00000374333.2_Missense_Mutation_p.C703F|TEX11_ENST00000344304.3_Missense_Mutation_p.C718F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	718							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GATGTCATTGCATGTCTGGAT	0.383													16	13					2.94398e-08	3.30447e-08	1	0	A	69811633	C	A	69811633	3	1	500	1	0	0	0	0	1	0	0	0	15868	710	25	4	693	4	TEX11	23	69811633	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	49749045	69811633	85458927	123	97046											
CAPN6	827	broad.mit.edu	37	chrX	110491851	110491851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaaactcgctggtgcgaCcatgctggaacatggttggg	9	8	16	8	2	0	1	0	0	0	1	1	4	0	2	1	5	4	3	1	5	2	1			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:110491851C>G	ENST00000324068.1	-	10	1597	c.1430G>C	c.(1429-1431)gGt>gCt	p.G477A	CAPN6_ENST00000541758.1_Missense_Mutation_p.G222A	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	477	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCTGGTGCGACCATGCTGGAA	0.512													15	11					0	0	0	0	G	110491851	C	G	110491851	3	3	500	1	0	0	0	0	1	0	0	0	2655	507	18	4	511	4	CAPN6	23	110491851	Missense_Mutation	SNP	C	TCGA-UF-A7JF-01A-11D-A34J-08	40680218	110491851	44778709	124	97047											
ZRANB2	9406	broad.mit.edu	37	chr1	71544350	71544350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatacttaccccgaccacatCgattacagctggttcttcta	11	12	5	13	2	2	0	0	0	2	0	3	2	2	0	3	1	4	2	3	1	5	6			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:71544350C>T	ENST00000370920.3	-	2	399	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R33Q	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	33					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CCGACCACATCGATTACAGCT	0.254													18	94					0	0	0	0	T	71544350	C	T	71544350	3	4	501	1	0	0	0	0	1	0	0	0	18316	884	31	1	968	1	ZRANB2	1	71544350	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08		71544350	177706271	1	97048											
DPYD	1806	broad.mit.edu	37	chr1	98157320	98157320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctcaaaattcactacatCatacggcagccggaactgag	15	8	7	11	2	3	1	3	1	1	0	4	2	3	2	1	2	4	1	1	2	6	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:98157320C>T	ENST00000370192.3	-	7	815	c.715G>A	c.(715-717)Gat>Aat	p.D239N	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	239					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCACTACATCATACGGCAGC	0.368													14	51					0	0	0	0	T	98157320	C	T	98157320	3	4	501	1	0	0	0	0	1	0	0	0	4781	826	29	2	2430	2	DPYD	1	98157320	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	26612970	98157320	151093301	2	97049											
FRRS1	391059	broad.mit.edu	37	chr1	100177977	100177977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggctctaagtaccttGggtcatgtaaaggtggcctg	11	10	13	7	0	2	1	1	0	1	1	2	1	2	1	2	4	1	3	2	4	5	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:100177977G>A	ENST00000414213.1	-	13	2019	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	FRRS1_ENST00000287474.5_Missense_Mutation_p.P473L|FRRS1_ENST00000492943.1_5'UTR			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	473	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TAAGTACCTTGGGTCATGTAA	0.388													18	20					0	0	0	0	A	100177977	G	A	100177977	3	1	501	1	0	0	0	0	1	0	0	0	6108	1348	47	4	482	4	FRRS1	1	100177977	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	2020657	100177977	149072644	3	97050											
PRPF38B	55119	broad.mit.edu	37	chr1	109241984	109241984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgggggttagaacgcaGgcgcagcagaagtagggaaa	13	4	17	7	3	0	3	0	1	0	2	0	4	0	4	1	4	2	5	1	4	5	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:109241984G>A	ENST00000370021.1	+	7	1287	c.650G>A	c.(649-651)aGg>aAg	p.R217K	PRPF38B_ENST00000370025.4_Missense_Mutation_p.R328K			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	328					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TTAGAACGCAGGCGCAGCAGA	0.498													6	95					0	0	0	0	A	109241984	G	A	109241984	3	1	501	1	0	0	0	0	1	0	0	0	12648	1000	35	4	1005	4	PRPF38B	1	109241984	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	9064007	109241984	140008637	4	97051											
UBQLN4	56893	broad.mit.edu	37	chr1	156020253	156020253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatctcaggattggaCatcagctgccgctgcatctg	9	9	11	12	1	3	0	2	0	2	0	4	3	3	2	1	2	4	4	1	2	0	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:156020253C>T	ENST00000368309.3	-	4	662	c.570G>A	c.(568-570)atG>atA	p.M190I	UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	190						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CAGGATTGGACATCAGCTGCC	0.577													33	61					0	0	0	0	T	156020253	C	T	156020253	3	4	501	1	0	0	0	0	1	0	0	0	16995	478	17	4	1267	4	UBQLN4	1	156020253	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	46778269	156020253	93230368	5	97052											
USF1	7391	broad.mit.edu	37	chr1	161012652	161012652	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcactgtcccctcttccGtttcagctgttttctgctgc	2	17	7	15	1	4	0	1	0	3	0	6	0	6	0	3	0	4	5	3	0	0	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:161012652G>A	ENST00000435396.1	-	0	223				USF1_ENST00000368021.3_Missense_Mutation_p.T10M|USF1_ENST00000368019.1_Missense_Mutation_p.T10M|USF1_ENST00000368020.1_Missense_Mutation_p.T10M	NM_207005.1	NP_996888.1	P22415	USF1_HUMAN	upstream transcription factor 1						cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCCTCTTCCGTTTCAGCTGT	0.493													20	108					0	0	0	0	A	161012652	G	A	161012652	1	1	501	1	0	0	0	0	0	0	0	0	17128	1145	40	1		1	USF1	1	161012652	Translation_Start_Site	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	4992399	161012652	88237969	6	97053											
PVRL4	81607	broad.mit.edu	37	chr1	161047418	161047418	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgttgtgcctttgacctcCgtgtcccaggtcacgctggg	4	11	13	13	3	1	1	1	1	0	0	3	2	3	1	4	2	1	2	4	2	0	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:161047418C>A	ENST00000368012.3	-	3	857	c.555G>T	c.(553-555)acG>acT	p.T185T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	185	Ig-like C2-type 1.		T -> M (in EDSS1).		adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTTTGACCTCCGTGTCCCAGG	0.637													29	34					4.87955e-14	5.71905e-14	1	0	A	161047418	C	A	161047418	2	1	501	1	0	0	0	0	0	0	0	1	12924	639	23	3		3	PVRL4	1	161047418	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	34766	161047418	88203203	7	97054											
C4BPA	722	broad.mit.edu	37	chr1	207287603	207287603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacctgtaattctgatggcGaatgggtgtataacaccttc	10	14	9	8	1	1	1	0	1	1	0	2	2	1	1	2	2	2	2	2	2	5	6	rs148489140		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:207287603G>A	ENST00000367070.3	+	3	495	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	101	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTCTGATGGCGAATGGGTGTA	0.393													4	94					0	0	0	0	A	207287603	G	A	207287603	3	1	501	1	0	0	0	0	1	0	0	0	2270	1059	37	1	307	1	C4BPA	1	207287603	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	46240185	207287603	41963018	8	97055											
ESRRG	2104	broad.mit.edu	37	chr1	216850525	216850525	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacagtctcttgggcatcGagttgagcatgtattcacac	11	11	9	10	1	2	1	1	1	1	0	4	2	2	1	0	1	2	4	0	1	2	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:216850525G>T	ENST00000391890.3	-	4	813	c.296C>A	c.(295-297)tCg>tAg	p.S99*	ESRRG_ENST00000493603.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.S127*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.S122*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.S99*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	122					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTGGGCATCGAGTTGAGCAT	0.502													56	73					3.84483e-29	4.81709e-29	1	0	T	216850525	G	T	216850525	4	4	501	1	0	0	0	0	0	1	0	0	5300	1059	37	3	1035	3	ESRRG	1	216850525	Nonsense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	9562922	216850525	32400096	9	97056											
ETAA1	54465	broad.mit.edu	37	chr2	67631109	67631109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatacgtcaagagcaaataCaagtccagatgccaggttag	17	7	9	8	1	1	2	1	0	0	2	2	2	2	2	2	1	4	2	2	1	7	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:67631109C>T	ENST00000272342.5	+	5	1425	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	432						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGAGCAAATACAAGTCCAGAT	0.328													15	42					0	0	0	0	T	67631109	C	T	67631109	3	4	501	1	0	0	0	0	1	0	0	0	5305	478	17	4	1313	4	ETAA1	2	67631109	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08		67631109	175568264	10	97057											
NCK2	8440	broad.mit.edu	37	chr2	106509549	106509549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcgcttccacaccatggacGagctggtggaacactacaaa	12	6	11	12	2	0	0	0	0	0	0	1	3	1	2	2	4	3	2	2	4	3	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:106509549G>C	ENST00000233154.4	+	5	1502	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	NCK2_ENST00000393349.2_Missense_Mutation_p.E354Q|NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	354	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CACCATGGACGAGCTGGTGGA	0.602													11	39					0	0	0	0	C	106509549	G	C	106509549	3	2	501	1	0	0	0	0	1	0	0	0	10290	1059	37	3	1070	3	NCK2	2	106509549	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	38878440	106509549	136689824	11	97058											
SLC20A1	6574	broad.mit.edu	37	chr2	113404993	113404993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactattggtttctccctcGtggcaaaggggcaggagggt	8	10	14	9	1	1	0	0	0	1	0	3	1	1	1	1	6	1	3	1	6	3	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:113404993G>A	ENST00000272542.3	+	3	966	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	143					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTTCTCCCTCGTGGCAAAGGG	0.433													96	121					0	0	0	0	A	113404993	G	A	113404993	3	1	501	1	0	0	0	0	1	0	0	0	14526	1145	40	1	433	1	SLC20A1	2	113404993	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	6895444	113404993	129794380	12	97059											
GPR148	344561	broad.mit.edu	37	chr2	131487510	131487510	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tattcccgggccaggggcacCctgctgatccactcagtgct	6	9	11	15	1	1	1	1	1	0	0	3	1	3	1	4	3	2	3	4	3	1	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:131487510C>A	ENST00000309926.4	+	1	868	c.786C>A	c.(784-786)acC>acA	p.T262T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCAGGGGCACCCTGCTGATCC	0.572													22	68					3.62473e-10	3.99087e-10	1	0	A	131487510	C	A	131487510	2	1	501	1	0	0	0	0	0	0	0	1	6702	610	22	4		4	GPR148	2	131487510	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	18082517	131487510	111711863	13	97060											
LCT	3938	broad.mit.edu	37	chr2	136570264	136570264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggagttgagccacaggatggGagcactgtctgttcatctgt	8	11	14	8	0	3	1	1	1	2	0	3	4	3	4	1	3	2	3	1	3	0	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:136570264G>C	ENST00000264162.2	-	7	1980	c.1970C>G	c.(1969-1971)tCc>tGc	p.S657C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	657	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACAGGATGGGAGCACTGTCT	0.562													12	53					0	0	0	0	C	136570264	G	C	136570264	3	2	501	1	0	0	0	0	1	0	0	0	8746	1174	41	2	3857	2	LCT	2	136570264	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	5082754	136570264	106629109	14	97061											
KCNJ3	3760	broad.mit.edu	37	chr2	155711567	155711567	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactttcccaaaaaactCttgaggatgagttctacaac	15	10	7	9	0	2	3	0	2	2	1	3	5	3	4	1	1	3	1	1	1	6	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:155711567C>A	ENST00000295101.2	+	3	1725	c.1248C>A	c.(1246-1248)ctC>ctA	p.L416L		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	416					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCAAAAAACTCTTGAGGATGA	0.388													45	44					4.0306e-16	4.82786e-16	1	0	A	155711567	C	A	155711567	2	1	501	1	0	0	0	0	0	0	0	1	8105	900	32	2		2	KCNJ3	2	155711567	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	19141303	155711567	87487806	15	97062											
SCN3A	6328	broad.mit.edu	37	chr2	165953013	165953013	+	Nonsense_Mutation	SNP	C	C	T																															gctgcatacataatatccatCcagcctttaaatgtggcctg																										TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:165953013C>T	ENST00000360093.3	-	24	4748	c.4257G>A	c.(4255-4257)tgG>tgA	p.W1419*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1370*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1419*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1419						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAATATCCATCCAGCCTTTAA	0.294													14	42					0	0	0	0	T	165953013	C	T	165953013	4	4	501	1	0	0	0	0	0	1	0	0	14005	856	30	2	1765	2	SCN3A	2	165953013	Nonsense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	10241446	165953013	77246360	16	97063	1160	2									
SCN3A	6328	broad.mit.edu	37	chr2	165953014	165953014	+	Missense_Mutation	SNP	C	C	G																															ctgcatacataatatccatcCagcctttaaatgtggcctgt																										TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:165953014C>G	ENST00000360093.3	-	24	4747	c.4256G>C	c.(4255-4257)tGg>tCg	p.W1419S	SCN3A_ENST00000409101.3_Missense_Mutation_p.W1370S|SCN3A_ENST00000283254.7_Missense_Mutation_p.W1419S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1419						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AATATCCATCCAGCCTTTAAA	0.294													14	42					0	0	0	0	G	165953014	C	G	165953014	3	3	501	1	0	0	0	0	1	0	0	0	14005	595	21	4	1766	4	SCN3A	2	165953014	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	1	165953014	77246359	17	97064	1160	2									
SCN1A	6323	broad.mit.edu	37	chr2	166848051	166848051	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatacttcctcttgttttcGttttaaagtagtagtgattg	9	19	8	5	1	1	2	0	1	1	1	3	2	2	2	1	0	1	4	1	0	5	10	rs77216276		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:166848051G>A	ENST00000423058.2	-	26	5751	c.5734C>T	c.(5734-5736)Cga>Tga	p.R1912*	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1884*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1901*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1912*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1912						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTGTTTTCGTTTTAAAGTA	0.413													53	55					0	0	0	0	A	166848051	G	A	166848051	4	1	501	1	0	0	0	0	0	1	0	0	14001	1153	40	1	299	1	SCN1A	2	166848051	Nonsense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	895037	166848051	76351322	18	97065											
ANKAR	150709	broad.mit.edu	37	chr2	190595232	190595232	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttacaggtgtagcccatAcaagcaatcctgtcagtcaa	12	10	7	12	0	3	0	2	0	1	0	4	0	4	0	2	1	4	2	2	1	6	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:190595232A>T	ENST00000520309.1	+	16	3293	c.3205A>T	c.(3205-3207)Aca>Tca	p.T1069S	ANKAR_ENST00000431575.2_Missense_Mutation_p.T998S|ANKAR_ENST00000313581.4_Missense_Mutation_p.T1069S|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1069						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTAGCCCATACAAGCAATCC	0.373													4	22					0	0	0	0	T	190595232	A	T	190595232	3	4	501	1	0	0	0	0	1	0	0	0	623	391	14	5	3263	5	ANKAR	2	190595232	Missense_Mutation	SNP	A	TCGA-UF-A7JH-01A-21D-A34J-08	23747181	190595232	52604141	19	97066											
DNPEP	23549	broad.mit.edu	37	chr2	220251440	220251440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggctgaagccattgccagGaacgtactggccccctacag	10	6	12	13	1	0	1	0	1	0	0	0	3	0	2	4	3	5	2	4	3	4	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:220251440G>A	ENST00000273075.4	-	4	500	c.280C>T	c.(280-282)Cct>Tct	p.P94S	DNPEP_ENST00000523282.1_Missense_Mutation_p.P102S|DNPEP_ENST00000373972.1_Missense_Mutation_p.P19S	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	84					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CCATTGCCAGGAACGTACTGG	0.587													3	2					0	0	0	0	A	220251440	G	A	220251440	3	1	501	1	0	0	0	0	1	0	0	0	4715	1174	41	2	1225	2	DNPEP	2	220251440	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	29656208	220251440	22947933	20	97067											
D2HGDH	728294	broad.mit.edu	37	chr2	242689679	242689679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcatgcagctggtcgggCgccatctccacctggccagc	5	8	13	15	2	1	0	0	0	1	0	3	0	1	0	4	3	4	3	4	3	0	0			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:242689679C>T	ENST00000321264.4	+	7	1176	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R189C	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	323					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTGGTCGGGCGCCATCTCCA	0.622													10	42					0	0	0	0	T	242689679	C	T	242689679	3	4	501	1	0	0	0	0	1	0	0	0	4246	768	27	1	989	1	D2HGDH	2	242689679	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	22438239	242689679	509694	21	97068											
DGKG	1608	broad.mit.edu	37	chr3	185978226	185978226	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaagattgtgatctccatAccctggagtaggccccccat	10	10	9	12	0	1	2	0	1	1	1	2	3	1	3	5	2	1	2	5	2	4	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr3:185978226A>T	ENST00000265022.3	-	16	1964		c.e16+1		DGKG_ENST00000544847.1_Splice_Site|DGKG_ENST00000382164.4_Splice_Site|DGKG_ENST00000344484.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa						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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGATCTCCATACCCTGGAGTA	0.408													11	21					0	0	0	0	T	185978226	A	T	185978226	5	4	501	1	0	0	0	0	0	0	1	0	4506	405	14	5	989	5	DGKG	3	185978226	Splice_Site	SNP	A	TCGA-UF-A7JH-01A-21D-A34J-08		185978226	12044204	22	97069											
ANAPC4	29945	broad.mit.edu	37	chr4	25395956	25395956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaacacaaccacatcagtgCaagatgagttcatgcacttg	15	8	8	10	0	2	3	2	1	0	2	2	3	2	3	1	0	4	3	1	0	3	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr4:25395956C>A	ENST00000315368.3	+	12	1043	c.901C>A	c.(901-903)Caa>Aaa	p.Q301K	ANAPC4_ENST00000510092.1_Missense_Mutation_p.Q301K	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	301					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CACATCAGTGCAAGATGAGTT	0.294													21	18					1.42536e-11	1.63541e-11	1	0	A	25395956	C	A	25395956	3	1	501	1	0	0	0	0	1	0	0	0	604	711	25	4	943	4	ANAPC4	4	25395956	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08		25395956	165758320	23	97070											
CMYA5	202333	broad.mit.edu	37	chr5	79032122	79032122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagaatcaaaagccgatGctatgccacagcacttctat	15	9	7	10	1	2	2	1	1	1	1	2	3	2	2	2	0	4	2	2	0	6	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:79032122G>T	ENST00000446378.2	+	2	7565	c.7534G>T	c.(7534-7536)Gct>Tct	p.A2512S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2512						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGCCGATGCTATGCCACA	0.378													36	22					6.19805e-25	7.59087e-25	1	0	T	79032122	G	T	79032122	3	4	501	1	0	0	0	0	1	0	0	0	3620	1319	46	4	7540	4	CMYA5	5	79032122	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		79032122	101883138	24	97071											
SLC25A46	91137	broad.mit.edu	37	chr5	110096948	110096948	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcattttggagtgtgttaaAgaaggaattggaagagtgat	13	12	15	1	0	0	3	0	1	0	2	0	6	0	6	0	4	0	2	0	4	5	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:110096948A>C	ENST00000355943.3	+	8	849	c.723A>C	c.(721-723)aaA>aaC	p.K241N	SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.K79N|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K150N|SLC25A46_ENST00000509432.1_Missense_Mutation_p.K28N|SLC25A46_ENST00000504098.1_Missense_Mutation_p.K95N	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	241					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTGTGTTAAAGAAGGAATTG	0.383													56	46					0	0	0	0	C	110096948	A	C	110096948	3	2	501	1	0	0	0	0	1	0	0	0	14599	69	3	5	753	5	SLC25A46	5	110096948	Missense_Mutation	SNP	A	TCGA-UF-A7JH-01A-21D-A34J-08	31064826	110096948	70818312	25	97072											
SLC27A6	28965	broad.mit.edu	37	chr5	128302064	128302064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcatctatgagggagaCatctacacctatcaggatgt	12	12	8	9	0	5	2	3	1	2	1	5	4	5	3	1	2	1	0	1	2	3	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:128302064C>T	ENST00000262462.4	+	1	1244	c.234C>T	c.(232-234)gaC>gaT	p.D78D	SLC27A6_ENST00000506176.1_Silent_p.D78D|SLC27A6_ENST00000395266.1_Silent_p.D78D			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	78					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.D78D(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATGAGGGAGACATCTACACCT	0.478													36	19					0	0	0	0	T	128302064	C	T	128302064	2	4	501	1	0	0	0	0	0	0	0	1	14618	477	17	4		4	SLC27A6	5	128302064	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	18205116	128302064	52613196	26	97073											
FOXF2	2295	broad.mit.edu	37	chr6	1390682	1390682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctaagggcctcgggcGgcccggcaagggccactact	6	5	15	15	3	0	0	0	0	0	0	1	0	0	0	4	5	2	2	4	5	3	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:1390682G>T	ENST00000259806.1	+	1	614	c.500G>T	c.(499-501)cGg>cTg	p.R167L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	167					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GGCCTCGGGCGGCCCGGCAAG	0.667													10	122					0.000442599	0.000455126	1	0	T	1390682	G	T	1390682	3	4	501	1	0	0	0	0	1	0	0	0	6053	1116	39	3	502	3	FOXF2	6	1390682	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		1390682	169724385	27	97074											
PLA2G7	7941	broad.mit.edu	37	chr6	46677139	46677139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaattactgctatttttTccctatcaatagagtcctat	10	17	4	10	0	1	1	1	0	0	1	4	1	4	1	3	0	2	1	3	0	7	8			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:46677139T>C	ENST00000274793.7	-	9	990	c.794A>G	c.(793-795)gAa>gGa	p.E265G	PLA2G7_ENST00000537365.1_Missense_Mutation_p.E265G	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	265					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGCTATTTTTTCCCTATCAAT	0.303													34	88					0	0	0	0	C	46677139	T	C	46677139	3	2	501	1	0	0	0	0	1	0	0	0	12081	1783	62	5	547	5	PLA2G7	6	46677139	Missense_Mutation	SNP	T	TCGA-UF-A7JH-01A-21D-A34J-08	45286457	46677139	124437928	28	97075											
UTRN	7402	broad.mit.edu	37	chr6	144835885	144835885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaagctcaagcagggagCttgtagaaccaaagttagct	13	8	13	7	0	1	1	1	0	0	1	1	3	1	3	1	2	5	6	1	2	6	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:144835885C>A	ENST00000367545.3	+	36	5173	c.5173C>A	c.(5173-5175)Ctt>Att	p.L1725I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1725	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGCAGGGAGCTTGTAGAACC	0.428													59	39					6.3091e-27	7.81468e-27	1	0	A	144835885	C	A	144835885	3	1	501	1	0	0	0	0	1	0	0	0	17199	797	28	4	5315	4	UTRN	6	144835885	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	98158746	144835885	26279182	29	97076											
OPRM1	4988	broad.mit.edu	37	chr6	154412543	154412543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcaacaaaactccactcGaattcgtcagaacactagag	16	7	7	11	2	1	3	1	1	0	2	4	4	2	3	1	0	4	1	1	0	6	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:154412543G>A	ENST00000414028.2	+	3	1150	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	OPRM1_ENST00000330432.7_Missense_Mutation_p.R367Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	367					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R367L(2)|p.R460L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AACTCCACTCGAATTCGTCAG	0.443													21	22					0	0	0	0	A	154412543	G	A	154412543	3	1	501	1	0	0	0	0	1	0	0	0	10958	1058	37	1	1444	1	OPRM1	6	154412543	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	9576658	154412543	16702524	30	97077											
SDK1	221935	broad.mit.edu	37	chr7	4153034	4153034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaaccagcgtcacggtccGtactgccagtgagaccagcc	9	6	10	16	3	1	1	1	1	0	1	3	2	3	1	6	1	5	1	6	1	2	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:4153034G>A	ENST00000404826.2	+	24	3687	c.3548G>A	c.(3547-3549)cGt>cAt	p.R1183H	SDK1_ENST00000389531.3_Missense_Mutation_p.R1183H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1183	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTCACGGTCCGTACTGCCAGT	0.652													5	172					0	0	0	0	A	4153034	G	A	4153034	3	1	501	1	0	0	0	0	1	0	0	0	14055	1145	40	1	3642	1	SDK1	7	4153034	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		4153034	154985629	31	97078											
CFTR	1080	broad.mit.edu	37	chr7	117230489	117230489	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagaaaaagaaatatttGaaaggtatgttctttgaata	19	13	7	2	0	1	4	0	2	1	2	1	4	1	4	0	1	1	2	0	1	9	7			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:117230489G>T	ENST00000003084.6	+	13	1894	c.1762G>T	c.(1762-1764)Gaa>Taa	p.E588*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E527*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	588	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGAAATATTTGAAAGGTATGT	0.294									Cystic Fibrosis				9	77					2.74318e-10	3.08254e-10	1	0	T	117230489	G	T	117230489	4	4	501	1	0	0	0	0	0	1	0	0	3323	1291	45	2	1812	2	CFTR	7	117230489	Nonsense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	113077455	117230489	41908174	32	97079											
TMEM140	55281	broad.mit.edu	37	chr7	134849719	134849719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgttccctctgagggctGagagggctgagagcaagctt	7	10	15	9	0	1	3	0	3	1	2	2	5	2	3	1	2	2	5	1	2	1	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:134849719G>A	ENST00000275767.2	+	2	749	c.526G>A	c.(526-528)Gag>Aag	p.E176K	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	176						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TCTGAGGGCTGAGAGGGCTGA	0.577													10	28					0	0	0	0	A	134849719	G	A	134849719	3	1	501	1	0	0	0	0	1	0	0	0	16149	1291	45	2	528	2	TMEM140	7	134849719	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	17619230	134849719	24288944	33	97080											
KEL	3792	broad.mit.edu	37	chr7	142654951	142654951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggagaggcaggatgaggtCctaggtaggctctgaagaaa	12	7	17	5	0	1	4	0	2	1	2	2	6	2	5	1	6	0	3	1	6	4	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:142654951C>A	ENST00000355265.2	-	6	1109	c.635G>T	c.(634-636)gGa>gTa	p.G212V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	212					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGATGAGGTCCTAGGTAGGC	0.517													16	47					1.5739e-10	1.78703e-10	1	0	A	142654951	C	A	142654951	3	1	501	1	0	0	0	0	1	0	0	0	8194	855	30	2	1619	2	KEL	7	142654951	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	7805232	142654951	16483712	34	97081											
SSPO	23145	broad.mit.edu	37	chr7	149509413	149509413	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagccggagctgtgggggaGgcctgcggagccggacccgg	5	4	21	11	4	0	0	0	0	0	0	0	4	0	4	4	7	4	2	4	7	1	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:149509413G>A	ENST00000378016.2	+	0	9811							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGGGGGAGGCCTGCGGAG	0.716													8	5					0	0	0	0	A	149509413	G	A	149509413	1	1	501	0	1	0	0	0	0	0	0	0	15279	1000	35	4		4	SSPO	7	149509413	RNA	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	6854462	149509413	9629250	35	97082											
RBM33	155435	broad.mit.edu	37	chr7	155503997	155503997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttccggtgcagcaccCgcaccacccatccccgcctc	5	6	8	22	3	0	0	0	0	0	0	3	0	2	0	7	1	3	5	7	1	0	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:155503997C>T	ENST00000401878.3	+	8	1247	c.1049C>T	c.(1048-1050)cCg>cTg	p.P350L	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	350	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTGCAGCACCCGCACCACCCA	0.687													22	38					0	0	0	0	T	155503997	C	T	155503997	3	4	501	1	0	0	0	0	1	0	0	0	13212	652	23	1	1079	1	RBM33	7	155503997	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	5994584	155503997	3634666	36	97083											
ENTPD4	9583	broad.mit.edu	37	chr8	23243467	23243467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcagcacattgcaagtGtttggtggccccatatggtg	9	10	12	10	0	0	0	0	0	0	0	0	0	0	0	3	3	3	4	3	3	3	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:23243467G>A	ENST00000356206.6	-	13	1925	c.1690C>T	c.(1690-1692)Cac>Tac	p.H564Y	LOXL2_ENST00000389131.3_Intron			Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		cattgcaagtgtttggtggcc	0.448													10	55					0	0	0	0	A	23243467	G	A	23243467	3	1	501	1	0	0	0	0	1	0	0	0	5179	1392	48	4		4	ENTPD4	8	23243467	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		23243467	123120555	37	97084											
SCARA3	51435	broad.mit.edu	37	chr8	27516476	27516476	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactacacacggctcttcagCggcctgcgcaccacctccac	9	6	7	19	3	2	0	1	0	1	0	3	0	3	0	4	2	4	2	4	2	2	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:27516476C>T	ENST00000301904.3	+	5	809	c.789C>T	c.(787-789)agC>agT	p.S263S	SCARA3_ENST00000337221.4_Silent_p.S263S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	263					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCTCTTCAGCGGCCTGCGCA	0.612													4	39					0	0	0	0	T	27516476	C	T	27516476	2	4	501	1	0	0	0	0	0	0	0	1	13965	767	27	1		1	SCARA3	8	27516476	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	4273009	27516476	118847546	38	97085											
ASPH	444	broad.mit.edu	37	chr8	62577965	62577965	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttccttggttttagcacTtttttctaggtccactttct	5	22	5	9	0	2	0	0	0	2	0	4	0	4	0	2	2	1	2	2	2	2	10			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:62577965T>C	ENST00000389204.4	-	6	608	c.523A>G	c.(523-525)Agt>Ggt	p.S175G	ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.S160G	NM_020164.4	NP_064549.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	391	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	gttttagcacttttttctagg	0.378													15	27					0	0	0	0	C	62577965	T	C	62577965	3	2	501	1	0	0	0	0	1	0	0	0	1057	1609	56	5	2213	5	ASPH	8	62577965	Missense_Mutation	SNP	T	TCGA-UF-A7JH-01A-21D-A34J-08	35061489	62577965	83786057	39	97086											
CSMD3	114788	broad.mit.edu	37	chr8	113299438	113299438	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtctagagccatggccGggagtacctggatcgccaca	8	8	12	13	2	1	1	0	0	1	1	3	3	2	3	5	3	2	1	5	3	2	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:113299438G>T	ENST00000297405.5	-	58	9430	c.9186C>A	c.(9184-9186)ccC>ccA	p.P3062P	CSMD3_ENST00000455883.2_Silent_p.P2893P|CSMD3_ENST00000343508.3_Silent_p.P3022P|CSMD3_ENST00000352409.3_Silent_p.P2992P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3062	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCCATGGCCGGGAGTACCTG	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	108					0.00307968	0.00310819	1	0	T	113299438	G	T	113299438	2	4	501	1	0	0	0	0	0	0	0	1	3978	1103	39	3		3	CSMD3	8	113299438	Silent	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	50721473	113299438	33064584	40	97087											
LAMC3	10319	broad.mit.edu	37	chr9	133884921	133884921	+	Frame_Shift_Del	DEL	C	C	-																															cacctggtggcagagcccgtCcatggccttcggcgtgcagt																										TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr9:133884921delC	ENST00000361069.4	+	1	453	c.320delC	c.(319-321)tcfs	p.S107fs	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	107	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGAGCCCGTCCATGGCCTTC	0.701													2	4	---	---	---	---					-	133884921	C	-	133884921	7	5	501	1	0	1	0	1	0	0	0	0	8669	855	30	0	322	0	LAMC3	9	133884921	Frame_Shift_Del	DEL	C	TCGA-UF-A7JH-01A-21D-A34J-08		133884921	7328510	41	97088											
SLC18A3	6572	broad.mit.edu	37	chr10	50820313	50820313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctggccaggacggCgagcctcgcagcccgcctgg	4	6	15	16	4	1	0	0	0	1	0	2	2	1	1	5	4	2	1	5	4	0	0			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr10:50820313C>T	ENST00000374115.3	+	1	1967	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	509					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCAGGACGGCGAGCCTCGCA	0.652													21	65					0	0	0	0	T	50820313	C	T	50820313	2	4	501	1	0	0	0	0	0	0	0	1	14515	755	27	1		1	SLC18A3	10	50820313	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08		50820313	84714434	42	97089											
PKD2L1	9033	broad.mit.edu	37	chr10	102049774	102049774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaagggccactcaccaCgcctggggagggagccagcc	9	3	16	13	1	1	1	1	1	0	0	1	3	1	3	5	5	2	0	5	5	1	0			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr10:102049774C>T	ENST00000318222.3	-	14	2630	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	PKD2L1_ENST00000338519.3_Missense_Mutation_p.V675M|PKD2L1_ENST00000353274.3_Missense_Mutation_p.V750M	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	750					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCACTCACCACGCCTGGGGAG	0.547													23	52					0	0	0	0	T	102049774	C	T	102049774	3	4	501	1	0	0	0	0	1	0	0	0	12039	536	19	1	181	1	PKD2L1	10	102049774	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	51229461	102049774	33484973	43	97090											
PHRF1	57661	broad.mit.edu	37	chr11	601588	601588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaggaagacggaagaaaGtgccgggaagaaagaaaacc	18	3	13	7	2	0	4	0	0	0	4	0	7	0	7	3	3	2	0	3	3	8	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:601588G>C	ENST00000264555.5	+	10	1167	c.1039G>C	c.(1039-1041)Gtg>Ctg	p.V347L	PHRF1_ENST00000416188.2_Missense_Mutation_p.V347L|PHRF1_ENST00000413872.2_Missense_Mutation_p.V346L|PHRF1_ENST00000533464.1_Missense_Mutation_p.V343L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	347	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGGAAGAAAGTGCCGGGAAG	0.537													17	42					0	0	0	0	C	601588	G	C	601588	3	2	501	1	0	0	0	0	1	0	0	0	11933	1029	36	4	1073	4	PHRF1	11	601588	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		601588	134404928	44	97091											
MUC2	4583	broad.mit.edu	37	chr11	1094728	1094728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccagcactgtgcagaCgaccaccaccagtgcctgga	10	4	9	18	1	0	1	0	0	0	1	0	3	0	2	6	1	3	2	6	1	0	0			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:1094728C>T	ENST00000441003.2	+	31	5843	c.5816C>T	c.(5815-5817)aCg>aTg	p.T1939M	MUC2_ENST00000333592.6_Missense_Mutation_p.T227M|MUC2_ENST00000361558.6_Missense_Mutation_p.T77M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1970						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACTGTGCAGACGACCACCACC	0.637													14	38					0	0	0	0	T	1094728	C	T	1094728	3	4	501	1	0	0	0	0	1	0	0	0	10045	536	19	1	5930	1	MUC2	11	1094728	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	493140	1094728	133911788	45	97092											
FAM160A2	84067	broad.mit.edu	37	chr11	6243788	6243788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggctctgagatactccGtaggaaaagttccagatagg	13	8	12	8	1	1	2	0	1	1	2	3	4	3	3	2	3	2	4	2	3	5	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:6243788G>A	ENST00000265978.4	-	6	1433	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R359W|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R359W	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	359					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGATACTCCGTAGGAAAAGT	0.527													15	36					0	0	0	0	A	6243788	G	A	6243788	3	1	501	1	0	0	0	0	1	0	0	0	5510	1144	40	1	1913	1	FAM160A2	11	6243788	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	5149060	6243788	128762728	46	97093											
ABCC8	6833	broad.mit.edu	37	chr11	17470205	17470205	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacaggtgcataattttaTtgtaaatcttggtctagaaa	13	15	9	4	0	2	1	0	0	2	1	2	2	2	2	0	3	1	2	0	3	6	7			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:17470205T>C	ENST00000302539.4	-	8	1315	c.1190A>G	c.(1189-1191)aAt>aGt	p.N397S	ABCC8_ENST00000389817.3_Missense_Mutation_p.N397S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	397	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CATAATTTTATTGTAAATCTT	0.458													28	56					0	0	0	0	C	17470205	T	C	17470205	3	2	501	1	0	0	0	0	1	0	0	0	58	1493	52	5	3683	5	ABCC8	11	17470205	Missense_Mutation	SNP	T	TCGA-UF-A7JH-01A-21D-A34J-08	11226417	17470205	117536311	47	97094											
GAS2	2620	broad.mit.edu	37	chr11	22770774	22770774	+	Frame_Shift_Del	DEL	A	A	-																															ccttcatcaaagtcttctggAaaaaagagtacaggaaactt																										TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:22770774delA	ENST00000454584.2	+	6	887	c.582delA	c.(580-582)ggfs	p.G194fs	GAS2_ENST00000433790.1_Frame_Shift_Del_p.G194fs|GAS2_ENST00000278187.3_Frame_Shift_Del_p.G194fs	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	194					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGTCTTCTGGAAAAAAGAGTA	0.398													17	51	---	---	---	---					-	22770774	A	-	22770774	7	5	501	1	0	1	0	1	0	0	0	0	6294	233	9	0	600	0	GAS2	11	22770774	Frame_Shift_Del	DEL	A	TCGA-UF-A7JH-01A-21D-A34J-08	5300569	22770774	112235742	48	97095											
GYLTL1B	120071	broad.mit.edu	37	chr11	45950259	45950259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggacatctcccgcttcCgctccagccccacctatcgt	5	9	7	20	3	1	0	0	0	1	0	5	1	3	1	7	1	1	2	7	1	1	2	rs2271851	byFrequency	TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:45950259C>T	ENST00000531526.1	+	14	2140	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R646C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R677C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R646C|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R677C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	677			R -> C (in dbSNP:rs2271851).		muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTCCCGCTTCCGCTCCAGCCC	0.637													11	53					0	0	0	0	T	45950259	C	T	45950259	3	4	501	1	0	0	0	0	1	0	0	0	6957	652	23	1	2079	1	GYLTL1B	11	45950259	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	23179485	45950259	89056257	49	97096											
C11orf30	56946	broad.mit.edu	37	chr11	76234333	76234333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacaacgttgctaaatgctGgagtaagtgagagcttcaac	13	10	10	8	1	2	1	2	1	0	1	2	3	2	2	0	1	5	5	0	1	5	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:76234333G>A	ENST00000529032.1	+	11	1819	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R	C11orf30_ENST00000524490.1_Missense_Mutation_p.G523R|C11orf30_ENST00000343878.3_Missense_Mutation_p.G607R|C11orf30_ENST00000533248.1_Missense_Mutation_p.G621R|C11orf30_ENST00000334736.3_Missense_Mutation_p.G607R|C11orf30_ENST00000525919.1_Missense_Mutation_p.G608R|C11orf30_ENST00000525038.1_Missense_Mutation_p.G622R|C11orf30_ENST00000524767.1_Missense_Mutation_p.G622R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	607	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTAAATGCTGGAGTAAGTGA	0.428													10	25					0	0	0	0	A	76234333	G	A	76234333	3	1	501	1	0	0	0	0	1	0	0	0	1647	1349	47	4	1861	4	C11orf30	11	76234333	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	30284074	76234333	58772183	50	97097											
INTS4	92105	broad.mit.edu	37	chr11	77669828	77669828	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgacgacccagataagcTggactgcagcactgcgcact	11	6	11	13	2	0	2	0	1	0	1	0	5	0	3	1	1	4	4	1	1	1	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:77669828T>A	ENST00000534064.1	-	7	795	c.761A>T	c.(760-762)cAg>cTg	p.Q254L	INTS4_ENST00000529807.1_Missense_Mutation_p.Q254L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	254					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCAGATAAGCTGGACTGCAGC	0.473													4	6					0	0	0	0	A	77669828	T	A	77669828	3	1	501	1	0	0	0	0	1	0	0	0	7833	1580	55	5	2198	5	INTS4	11	77669828	Missense_Mutation	SNP	T	TCGA-UF-A7JH-01A-21D-A34J-08	1435495	77669828	57336688	51	97098											
CHEK1	1111	broad.mit.edu	37	chr11	125514440	125514440	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggtcaaaagaatgacaCgattctttaccaaattggat	14	12	9	6	1	2	2	1	1	1	1	2	4	2	3	1	3	1	1	1	3	5	5			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:125514440C>T	ENST00000534070.1	+	11	1390	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.R379*|CHEK1_ENST00000524737.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000278916.3_Intron|CHEK1_ENST00000427383.2_Nonsense_Mutation_p.R395*|CHEK1_ENST00000544373.1_Nonsense_Mutation_p.R379*	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	379					cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AAGAATGACACGATTCTTTAC	0.373								Other conserved DNA damage response genes					6	51					0	0	0	0	T	125514440	C	T	125514440	4	4	501	1	0	0	0	0	0	1	0	0	3363	528	19	1	1173	1	CHEK1	11	125514440	Nonsense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	47844612	125514440	9492076	52	97099											
CACNA1C	775	broad.mit.edu	37	chr12	2714952	2714952	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggggtccagctcttcaaGgtaaagtctgggctccgttg	7	11	13	10	2	3	0	1	0	2	0	6	0	5	0	2	4	1	4	2	4	3	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:2714952G>A	ENST00000399655.1	+	24	3421	c.3156_splice	c.e24+1	p.K1052_splice	CACNA1C_ENST00000399601.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399595.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399617.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399629.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000335762.5_Splice_Site_p.K1077_splice|CACNA1C_ENST00000344100.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399637.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000327702.7_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399591.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399603.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399606.1_Splice_Site_p.K1072_splice|CACNA1C_ENST00000347598.4_Splice_Site_p.K1072_splice|CACNA1C_ENST00000399649.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399634.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399644.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399621.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399597.1_Splice_Site_p.K1052_splice|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000402845.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000406454.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000480911.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399638.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399641.1_Splice_Site_p.K1052_splice	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1072					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCTCTTCAAGGTAAAGTCTG	0.542													48	47					0	0	0	0	A	2714952	G	A	2714952	5	1	501	1	0	0	0	0	0	0	1	0	2565	1014	35	4	3422	4	CACNA1C	12	2714952	Splice_Site	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		2714952	131136943	53	97100											
CNTN1	1272	broad.mit.edu	37	chr12	41463813	41463813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgctgcctgcctttggCatccttgtctacttggaatt	5	17	8	11	0	1	0	0	0	1	0	2	1	2	1	3	2	5	2	3	2	3	6			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:41463813C>T	ENST00000551295.2	+	24	3150	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	CNTN1_ENST00000348761.2_Silent_p.G1000G|CNTN1_ENST00000347616.1_Silent_p.G1011G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1011					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGCCTTTGGCATCCTTGTCT	0.483													11	35					0	0	0	0	T	41463813	C	T	41463813	2	4	501	1	0	0	0	0	0	0	0	1	3670	697	25	4		4	CNTN1	12	41463813	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	38748861	41463813	92388082	54	97101											
PRPH	5630	broad.mit.edu	37	chr12	49691346	49691346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctaccgcaagctgctggaGggcgaggagagccggtgagg	9	4	18	10	3	0	2	0	1	0	1	0	5	0	3	3	5	4	3	3	5	2	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:49691346G>A	ENST00000257860.4	+	6	2702	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	401	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						AGCTGCTGGAGGGCGAGGAGA	0.687													21	22					0	0	0	0	A	49691346	G	A	49691346	2	1	501	1	0	0	0	0	0	0	0	1	12656	991	35	4		4	PRPH	12	49691346	Silent	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	8227533	49691346	84160549	55	97102											
PTPRB	5787	broad.mit.edu	37	chr12	70980858	70980858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtagccatgtattttCgtccaggcaccaggtcagta	9	12	10	10	1	1	1	1	1	0	0	3	1	2	1	3	2	1	4	3	2	3	5			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:70980858C>A	ENST00000334414.6	-	9	2284	c.2240G>T	c.(2239-2241)cGa>cTa	p.R747L	PTPRB_ENST00000550358.1_Missense_Mutation_p.R747L|PTPRB_ENST00000261266.5_Missense_Mutation_p.R529L|PTPRB_ENST00000451516.2_Missense_Mutation_p.R439L|PTPRB_ENST00000538708.1_Missense_Mutation_p.R529L|PTPRB_ENST00000550857.1_Missense_Mutation_p.R439L|PTPRB_ENST00000551525.1_Missense_Mutation_p.R746L|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	529	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGTATTTTCGTCCAGGCAC	0.373													123	66					2.53974e-74	3.25684e-74	1	0	A	70980858	C	A	70980858	3	1	501	1	0	0	0	0	1	0	0	0	12878	884	31	3	4511	3	PTPRB	12	70980858	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	21289512	70980858	62871037	56	97103											
WSB2	55884	broad.mit.edu	37	chr12	118473017	118473018	+	Splice_Site	INS	-	-	C																															aaagagagttctcttcgttaINScctgtcatctgccaccgtgg																										TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:118473017_118473018insC	ENST00000315436.3	-	7	1086		c.e7+1		WSB2_ENST00000542304.1_Splice_Site|WSB2_ENST00000535496.1_Splice_Site|WSB2_ENST00000441406.2_Splice_Site|WSB2_ENST00000544233.1_Splice_Site	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2						intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCTTCGTTACCTGTCATCTG	0.52											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	37	---	---	---	---					C	118473018	-	C	118473017	8	5	501	1	0	1	1	0	0	0	1	0	17501	405	14	0	280	0	WSB2	12	118473017	Splice_Site	INS	-	TCGA-UF-A7JH-01A-21D-A34J-08	47492159	118473017	15378878	57	97104											
CCNA1	8900	broad.mit.edu	37	chr13	37011903	37011903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggatgaactagagcagggGgacagagacagctgctcggt	12	6	16	7	1	0	3	0	1	0	2	1	6	0	5	0	4	4	3	0	4	2	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr13:37011903G>A	ENST00000418263.1	+	3	782	c.432G>A	c.(430-432)ggG>ggA	p.G144G	CCNA1_ENST00000449823.1_Silent_p.G101G|CCNA1_ENST00000440264.1_Silent_p.G101G|CCNA1_ENST00000255465.4_Silent_p.G145G	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	145					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TAGAGCAGGGGGACAGAGACA	0.542													54	28					0	0	0	0	A	37011903	G	A	37011903	2	1	501	1	0	0	0	0	0	0	0	1	2938	1219	43	4		4	CCNA1	13	37011903	Silent	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		37011903	78157975	58	97105											
OR4K2	390431	broad.mit.edu	37	chr14	20345218	20345218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatgtggccactaagcagCtttctcacagacaagattct	12	11	7	11	0	2	2	1	0	2	2	3	2	2	2	1	1	3	2	1	1	3	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:20345218C>A	ENST00000298642.2	+	1	828	c.792C>A	c.(790-792)agC>agA	p.S264R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTAAGCAGCTTTCTCACAG	0.403													24	183					7.92952e-12	9.19487e-12	1	0	A	20345218	C	A	20345218	3	1	501	1	0	0	0	0	1	0	0	0	11143	796	28	4	794	4	OR4K2	14	20345218	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08		20345218	87004322	59	97106											
OR4K17	390436	broad.mit.edu	37	chr14	20586096	20586096	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtgttttgcttgtagtGacctcatggctcttgggtct	4	18	12	7	0	3	1	1	1	2	0	3	1	3	1	1	2	1	5	1	2	2	6			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:20586096G>T	ENST00000315543.4	+	1	531	c.531G>T	c.(529-531)gtG>gtT	p.V177V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGCTTGTAGTGACCTCATGGC	0.448													58	72					1.17673e-23	1.42515e-23	1	0	T	20586096	G	T	20586096	2	4	501	1	0	0	0	0	0	0	0	1	11142	1277	45	2		2	OR4K17	14	20586096	Silent	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	240878	20586096	86763444	60	97107											
SUPT16H	11198	broad.mit.edu	37	chr14	21852044	21852044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgctgtacagtctctTcactcgccgataataagcgt	10	12	7	12	3	2	0	1	0	1	0	4	1	2	0	2	0	3	2	2	0	4	5			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:21852044T>C	ENST00000216297.2	-	1	381	c.43A>G	c.(43-45)Aag>Gag	p.K15E	SUPT16H_ENST00000555943.1_Missense_Mutation_p.K15E	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	15					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TACAGTCTCTTCACTCGCCGA	0.557													4	103					0	0	0	0	C	21852044	T	C	21852044	3	2	501	1	0	0	0	0	1	0	0	0	15486	1792	62	5	3204	5	SUPT16H	14	21852044	Missense_Mutation	SNP	T	TCGA-UF-A7JH-01A-21D-A34J-08	1265948	21852044	85497496	61	97108											
LTB4R	1241	broad.mit.edu	37	chr14	24784885	24784885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacatcttctgcagcacccCcctcactaggtgtagagttc	8	11	7	15	0	3	1	1	0	2	1	4	1	3	1	3	1	3	4	3	1	3	5			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:24784885C>A	ENST00000396789.4	+	2	1753	c.28C>A	c.(28-30)Ccc>Acc	p.P10T	LTB4R_ENST00000345363.3_Missense_Mutation_p.P10T|LTB4R_ENST00000396782.2_Missense_Mutation_p.P10T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGCAGCACCCCCCTCACTAGG	0.582													16	117					4.75885e-15	5.6382e-15	1	0	A	24784885	C	A	24784885	3	1	501	1	0	0	0	0	1	0	0	0	9135	623	22	4	30	4	LTB4R	14	24784885	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	2932841	24784885	82564655	62	97109											
RTN1	6252	broad.mit.edu	37	chr14	60097285	60097285	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgagcgtgcactcaagcGttggtgcccggctgctgcgg	4	7	16	14	6	1	0	1	0	0	0	1	1	1	0	2	3	6	4	2	3	1	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:60097285G>A	ENST00000342503.4	-	0	247				RTN1_ENST00000395090.1_De_novo_Start_OutOfFrame|RTN1_ENST00000267484.5_Intron|RTN1_ENST00000557422.1_5'UTR	NM_206852.2	NP_996734.1	Q16799	RTN1_HUMAN	reticulon 1						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCACTCAAGCGTTGGTGCCCG	0.721													31	59					0	0	0	0	A	60097285	G	A	60097285	1	1	501	1	0	0	0	0	0	0	0	0	13810	1160	40	1		1	RTN1	14	60097285	Translation_Start_Site	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	35312400	60097285	47252255	63	97110											
SPTB	6710	broad.mit.edu	37	chr14	65239534	65239534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacatctcgttcagcccgtCcttccactcggcgatggtgg	5	10	10	16	4	2	0	1	0	1	0	6	1	4	0	4	3	1	1	4	3	0	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:65239534C>T	ENST00000389722.3	-	25	5370	c.5317G>A	c.(5317-5319)Gac>Aac	p.D1773N	SPTB_ENST00000389720.3_Missense_Mutation_p.D1773N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1773N|SPTB_ENST00000389721.5_Missense_Mutation_p.D1773N|SPTB_ENST00000542895.1_Missense_Mutation_p.D1773N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1773					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCAGCCCGTCCTTCCACTCG	0.642													25	50					0	0	0	0	T	65239534	C	T	65239534	3	4	501	1	0	0	0	0	1	0	0	0	15208	855	30	2	1782	2	SPTB	14	65239534	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	5142249	65239534	42110006	64	97111											
BTBD6	90135	broad.mit.edu	37	chr14	105715748	105715748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccatgttctacggagacCtggcggaagtcaaatctgaa	12	9	11	9	2	3	2	1	1	2	1	3	4	3	3	2	3	2	1	2	3	4	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:105715748C>T	ENST00000463376.2	+	2	674	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	BTBD6_ENST00000327471.3_Silent_p.L45L|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000536364.1_Silent_p.L120L|BTBD6_ENST00000392554.3_Silent_p.L120L|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	120	Pro-rich.					cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CTACGGAGACCTGGCGGAAGT	0.582													26	52					0	0	0	0	T	105715748	C	T	105715748	2	4	501	1	0	0	0	0	0	0	0	1	1554	680	24	4		4	BTBD6	14	105715748	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	40476214	105715748	1633792	65	97112											
RYR3	6263	broad.mit.edu	37	chr15	34080543	34080543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggagcagttgaaagcCgatggcaaaggggacaccca	14	3	16	8	1	0	1	0	1	0	0	0	6	0	4	2	5	2	3	2	5	2	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:34080543C>T	ENST00000389232.4	+	67	9784	c.9714C>T	c.(9712-9714)gcC>gcT	p.A3238A	RYR3_ENST00000415757.3_Silent_p.A3238A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3238					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTTGAAAGCCGATGGCAAAG	0.567													8	109					0	0	0	0	T	34080543	C	T	34080543	2	4	501	1	0	0	0	0	0	0	0	1	13855	639	23	1		1	RYR3	15	34080543	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08		34080543	68450849	66	97113											
UNC13C	440279	broad.mit.edu	37	chr15	54626011	54626011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactgcaagacctgaaatCaactgttgacctgttaacaa	16	9	7	9	0	1	4	1	2	0	2	1	4	1	4	2	0	3	3	2	0	6	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:54626011C>T	ENST00000545554.1	+	15	4541	c.4541C>T	c.(4540-4542)tCa>tTa	p.S1514L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S1514L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1512L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1514					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACCTGAAATCAACTGTTGAC	0.363													12	7					0	0	0	0	T	54626011	C	T	54626011	3	4	501	1	0	0	0	0	1	0	0	0	17082	838	29	2	4595	2	UNC13C	15	54626011	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	20545468	54626011	47905381	67	97114											
FURIN	5045	broad.mit.edu	37	chr15	91420200	91420200	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagggcacggcattgtggtCtccattctggacgatggcat	8	10	13	10	2	2	0	0	0	2	0	3	2	2	1	1	5	0	3	1	5	0	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:91420200C>G	ENST00000268171.3	+	5	726	c.447C>G	c.(445-447)gtC>gtG	p.V149V		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	149					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCATTGTGGTCTCCATTCTGG	0.602													66	32					0	0	0	0	G	91420200	C	G	91420200	2	3	501	1	0	0	0	0	0	0	0	1	6147	900	32	2		2	FURIN	15	91420200	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	36794189	91420200	11111192	68	97115											
RHOT2	89941	broad.mit.edu	37	chr16	721934	721934	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcgccctggggcccCgagctcccacgcacagtccg	6	3	12	20	4	0	0	0	0	0	0	2	1	2	0	6	2	3	3	6	2	0	0			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:721934C>G	ENST00000315082.4	+	13	1143	c.1029C>G	c.(1027-1029)ccC>ccG	p.P343P		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	343					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCTGGGGCCCCGAGCTCCCAC	0.682													41	64					0	0	0	0	G	721934	C	G	721934	2	3	501	1	0	0	0	0	0	0	0	1	13427	639	23	3		3	RHOT2	16	721934	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08		721934	89632819	69	97116											
MMP25	64386	broad.mit.edu	37	chr16	3107600	3107603	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															cgccaacatccgaggggaaaCtttcttcttcaaaggtgagt																										TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:3107600_3107603delCTTT	ENST00000336577.4	+	7	1229_1232	c.992_995delCTTT	c.(991-996)acfs	p.TF331fs	RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	331	Hemopexin-like 1.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGAGGGGAAACTTTCTTCTTCAAA	0.539													13	103	---	---	---	---					-	3107603	CTTT	-	3107600	7	5	501	1	0	1	0	1	0	0	0	0	9732	565	20	0	1018	0	MMP25	16	3107600	Frame_Shift_Del	DEL	CTTT	TCGA-UF-A7JH-01A-21D-A34J-08	2385666	3107600	87247153	70	97117											
ACSM1	116285	broad.mit.edu	37	chr16	20682933	20682933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtggtcccactggtgaaGaagatgaccattgggtccaa	10	9	12	10	0	0	4	0	2	0	2	2	4	2	4	4	3	0	0	4	3	3	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:20682933G>A	ENST00000307493.4	-	4	739	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F224F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	224					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTGGTGAAGAAGATGACCA	0.502													36	62					0	0	0	0	A	20682933	G	A	20682933	2	1	501	1	0	0	0	0	0	0	0	1	182	933	33	2		2	ACSM1	16	20682933	Silent	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	17575333	20682933	69671820	71	97118											
MNT	4335	broad.mit.edu	37	chr17	2298352	2298352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggctgccattgggtggaAtggtggccttcgagtccggc	4	10	18	9	2	0	0	0	0	0	0	2	2	1	1	3	7	1	1	3	7	1	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:2298352A>G	ENST00000174618.4	-	2	875	c.470T>C	c.(469-471)aTt>aCt	p.I157T		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	157					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		ATTGGGTGGAATGGTGGCCTT	0.692													4	4					0	0	0	0	G	2298352	A	G	2298352	3	3	501	1	0	0	0	0	1	0	0	0	9748	101	4	5	1298	5	MNT	17	2298352	Missense_Mutation	SNP	A	TCGA-UF-A7JH-01A-21D-A34J-08		2298352	78896858	72	97119											
ANKFY1	51479	broad.mit.edu	37	chr17	4080459	4080459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagcctgcttggacagCgaggtgcaggggggtcaact	7	9	16	9	1	2	1	1	1	1	0	2	3	2	2	1	5	5	2	1	5	1	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:4080459C>T	ENST00000341657.4	-	19	2772	c.2737G>A	c.(2737-2739)Gct>Act	p.A913T	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A955T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A914T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	913				A -> V (in Ref. 1; BAA90300).		endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCTTGGACAGCGAGGTGCAGG	0.438													6	85					0	0	0	0	T	4080459	C	T	4080459	3	4	501	1	0	0	0	0	1	0	0	0	626	768	27	1	800	1	ANKFY1	17	4080459	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	1782107	4080459	77114751	73	97120											
TP53	7157	broad.mit.edu	37	chr17	7577095	7577096	+	Frame_Shift_Ins	INS	-	-	TCTC																															tctcttcctctgtgcgccggINStctctcccaggacaggcaca																										TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:7577095_7577096insTCTC	ENST00000420246.2	-	8	974_975	c.842_843insGAGA	c.(841-843)gcgfs	p.A281fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.A281fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A281fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.A281fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A281fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D281E(28)|p.R282W(10)|p.D281G(10)|p.0?(8)|p.D281V(5)|p.D281D(5)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.D281_R282delDR(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)		CTGTGCGCCGGTCTCTCCCAGG	0.554		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)			14	18	---	---	---	---					TCTC	7577096	-	TCTC	7577095	7	5	501	1	0	1	1	0	0	0	0	0	16476	1252	44	0	443	0	TP53	17	7577095	Frame_Shift_Ins	INS	-	TCGA-UF-A7JH-01A-21D-A34J-08	3496636	7577095	73618115	74	97121											
CDRT15	146822	broad.mit.edu	37	chr17	14140021	14140021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtggtacctggatgcGccttattacaacgggcgaca	8	10	12	11	3	0	0	0	0	0	0	1	2	1	1	3	3	4	1	3	3	4	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:14140021G>A	ENST00000420162.2	-	1	145	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	CDRT15_ENST00000431716.2_Missense_Mutation_p.A19V	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	44										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACCTGGATGCGCCTTATTACA	0.607													15	14					0	0	0	0	A	14140021	G	A	14140021	3	1	501	1	0	0	0	0	1	0	0	0	3204	1087	38	1	446	1	CDRT15	17	14140021	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	6562926	14140021	67055189	75	97122											
USP36	57602	broad.mit.edu	37	chr17	76816075	76816075	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaagttccagagcaCgcacaatattcgcagcttgc	14	8	7	12	2	1	1	1	0	0	1	3	1	2	1	1	0	3	5	1	0	4	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:76816075C>T	ENST00000449938.2	-	0	1403				USP36_ENST00000542802.2_Missense_Mutation_p.R283H|USP36_ENST00000312010.6_Missense_Mutation_p.R283H			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R283H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCAGAGCACGCACAATATT	0.428													101	44					0	0	0	0	T	76816075	C	T	76816075	1	4	501	1	0	0	0	0	0	0	0	0	17163	536	19	1		1	USP36	17	76816075	Translation_Start_Site	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	62676054	76816075	4379135	76	97123											
ZNF440	126070	broad.mit.edu	37	chr19	11943101	11943101	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagaaaccctataaatgTaagcagtgtggtaaagcctt	15	9	11	6	0	0	1	0	0	0	1	0	3	0	2	2	2	3	3	2	2	7	5			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:11943101T>C	ENST00000304060.5	+	4	1274	c.1110T>C	c.(1108-1110)tgT>tgC	p.C370C		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTATAAATGTAAGCAGTGTG	0.383													6	57					0	0	0	0	C	11943101	T	C	11943101	2	2	501	1	0	0	0	0	0	0	0	1	18008	1644	57	5		5	ZNF440	19	11943101	Silent	SNP	T	TCGA-UF-A7JH-01A-21D-A34J-08		11943101	47185882	77	97124											
CLIP3	25999	broad.mit.edu	37	chr19	36507075	36507075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctaagactgcatctcCgccctcagcatccaggggaa	9	7	10	15	1	3	1	1	0	2	1	5	2	4	2	4	3	2	2	4	3	2	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:36507075C>T	ENST00000360535.4	-	14	1856	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	CLIP3_ENST00000593074.1_Silent_p.A543A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	543	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTGCATCTCCGCCCTCAGCA	0.592													6	21					0	0	0	0	T	36507075	C	T	36507075	2	4	501	1	0	0	0	0	0	0	0	1	3564	639	23	1		1	CLIP3	19	36507075	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	24563974	36507075	22621908	78	97125											
BCL2L12	83596	broad.mit.edu	37	chr19	50176978	50176978	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctggctgtttcaccCgtggacttgaacttgccatt	6	13	10	12	1	1	1	1	1	0	0	2	2	2	2	3	3	2	3	3	3	1	4			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:50176978C>T	ENST00000246785.3	+	7	1236	c.978C>T	c.(976-978)ccC>ccT	p.P326P	BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Silent_p.P325P|BCL2L12_ENST00000594793.1_3'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	326					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGTTTCACCCGTGGACTTGA	0.557													10	57					0	0	0	0	T	50176978	C	T	50176978	2	4	501	1	0	0	0	0	0	0	0	1	1374	639	23	1		1	BCL2L12	19	50176978	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	13669903	50176978	8952005	79	97126											
VN1R2	317701	broad.mit.edu	37	chr19	53762570	53762570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctcctgggaacagagccatCcaaagcatccttgcattggt	10	10	9	12	0	1	1	0	0	1	1	4	2	3	2	4	2	4	2	4	2	2	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:53762570C>G	ENST00000341702.3	+	1	1026	c.942C>G	c.(940-942)atC>atG	p.I314M	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	314					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACAGAGCCATCCAAAGCATCC	0.468													23	116					0	0	0	0	G	53762570	C	G	53762570	3	3	501	1	0	0	0	0	1	0	0	0	17275	845	30	2	944	2	VN1R2	19	53762570	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	3585592	53762570	5366413	80	97127											
NLRP12	91662	broad.mit.edu	37	chr19	54313275	54313275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagaaaacgcgtactcGgtcaacagcctggtcacgtc	10	9	9	13	4	3	1	3	0	0	1	5	1	3	1	1	2	4	1	1	2	4	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:54313275G>A	ENST00000324134.6	-	3	1806	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	NLRP12_ENST00000391775.3_Silent_p.T546T|NLRP12_ENST00000535162.1_Silent_p.T546T|NLRP12_ENST00000391772.1_Silent_p.T546T|NLRP12_ENST00000354278.3_Silent_p.T546T|NLRP12_ENST00000345770.5_Silent_p.T546T|NLRP12_ENST00000351894.4_Silent_p.T546T|NLRP12_ENST00000391773.1_Silent_p.T546T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	546					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGCGTACTCGGTCAACAGCC	0.567													29	83					0	0	0	0	A	54313275	G	A	54313275	2	1	501	1	0	0	0	0	0	0	0	1	10544	1103	39	1		1	NLRP12	19	54313275	Silent	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	550705	54313275	4815708	81	97128											
TOX2	84969	broad.mit.edu	37	chr20	42694468	42694468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccttcctgacgccgtcGgacctgcaggccttccgcag	4	8	11	18	4	0	1	0	1	0	0	4	2	3	2	7	2	1	2	7	2	0	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr20:42694468G>A	ENST00000358131.5	+	6	1231	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	TOX2_ENST00000423191.1_Silent_p.S317S|TOX2_ENST00000435864.2_Silent_p.S237S|TOX2_ENST00000341197.3_Silent_p.S359S|TOX2_ENST00000372999.1_Silent_p.S317S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGACGCCGTCGGACCTGCAGG	0.682													30	85					0	0	0	0	A	42694468	G	A	42694468	2	1	501	1	0	0	0	0	0	0	0	1	16473	1103	39	1		1	TOX2	20	42694468	Silent	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		42694468	20331052	82	97129											
KCNG1	3755	broad.mit.edu	37	chr20	49626377	49626377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcttctgcaggtagcggcGcttgcagcagccgtccaggt	7	9	13	12	3	2	0	0	0	2	0	3	0	3	0	2	3	5	5	2	3	2	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr20:49626377G>A	ENST00000371571.4	-	2	784	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	KCNG1_ENST00000396017.3_Missense_Mutation_p.R167C|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	167						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGTAGCGGCGCTTGCAGCAG	0.687													5	66					0	0	0	0	A	49626377	G	A	49626377	3	1	501	1	0	0	0	0	1	0	0	0	8080	1087	38	1	1050	1	KCNG1	20	49626377	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	6931909	49626377	13399143	83	97130											
SIM2	6493	broad.mit.edu	37	chr21	38117419	38117419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacactgctaggcacagcCtggtgccaagctacgaaggt	11	6	12	12	2	0	0	0	0	0	0	0	2	0	0	2	3	6	3	2	3	5	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr21:38117419C>T	ENST00000290399.6	+	10	2171	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	SIM2_ENST00000430056.3_Silent_p.L520L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	520	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TAGGCACAGCCTGGTGCCAAG	0.627													4	5					0	0	0	0	T	38117419	C	T	38117419	2	4	501	1	0	0	0	0	0	0	0	1	14412	680	24	4		4	SIM2	21	38117419	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08		38117419	10012476	84	97131											
CCT8L2	150160	broad.mit.edu	37	chr22	17072280	17072280	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagacggcctgctctgcActccgcagcccctgggtggt	4	9	14	14	2	1	1	0	0	1	1	2	1	2	1	4	4	3	4	4	4	1	1			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr22:17072280A>T	ENST00000359963.3	-	1	1420	c.1161T>A	c.(1159-1161)agT>agA	p.S387R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	387					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCTGCTCTGCACTCCGCAGCC	0.562													27	37					0	0	0	0	T	17072280	A	T	17072280	3	4	501	1	0	0	0	0	1	0	0	0	2990	156	6	5	516	5	CCT8L2	22	17072280	Missense_Mutation	SNP	A	TCGA-UF-A7JH-01A-21D-A34J-08		17072280	34232286	85	97132											
MMP11	4320	broad.mit.edu	37	chr22	24122901	24122901	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggactatcggggatgaccaGggtatgggctggggacccat	8	8	17	8	1	0	1	0	1	0	0	1	4	0	4	2	7	0	2	2	7	2	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr22:24122901G>A	ENST00000215743.3	+	4	667	c.616_splice	c.e4+1	p.Q205_splice	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	205					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GGGATGACCAGGGTATGGGCT	0.582													9	18					0	0	0	0	A	24122901	G	A	24122901	5	1	501	1	0	0	0	0	0	0	1	0	9719	1014	35	4	629	4	MMP11	22	24122901	Splice_Site	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08	7050621	24122901	27181665	86	97133											
FAM47A	158724	broad.mit.edu	37	chrX	34149866	34149866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatgtttaccaggctcaGtgggtacctctgttgtcttc	6	14	12	9	0	3	0	1	0	2	0	4	1	3	1	2	3	2	4	2	3	2	5			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:34149866G>T	ENST00000346193.3	-	1	581	c.530C>A	c.(529-531)aCt>aAt	p.T177N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	177	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCAGGCTCAGTGGGTACCTC	0.577													13	14					0.00136819	0.00139377	1	0	T	34149866	G	T	34149866	3	4	501	1	0	0	0	0	1	0	0	0	5616	1029	36	4	1849	4	FAM47A	23	34149866	Missense_Mutation	SNP	G	TCGA-UF-A7JH-01A-21D-A34J-08		34149866	121120694	87	97134											
RLIM	51132	broad.mit.edu	37	chrX	73811695	73811695	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatctgagctagtttctgaActttcaccaccggaactgga	12	11	8	10	1	3	2	1	2	2	0	3	4	3	4	2	2	3	2	2	2	4	3			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:73811695A>G	ENST00000332687.6	-	4	1673	c.1455T>C	c.(1453-1455)agT>agC	p.S485S	RLIM_ENST00000349225.2_Silent_p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	485	Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGTTTCTGAACTTTCACCAc	0.493													3	15					0	0	0	0	G	73811695	A	G	73811695	2	3	501	1	0	0	0	0	0	0	0	1	13475	40	2	5		5	RLIM	23	73811695	Silent	SNP	A	TCGA-UF-A7JH-01A-21D-A34J-08	39661829	73811695	81458865	88	97135											
CT47B1	643311	broad.mit.edu	37	chrX	120008940	120008940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacgcggcctcctggacCgacgcagcctcctggatcag	7	5	12	17	5	1	0	1	0	0	0	3	4	3	2	6	3	1	1	6	3	0	0			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:120008940C>T	ENST00000371311.3	-	1	839	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	195										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCTGGACCGACGCAGCCT	0.706													42	13					0	0	0	0	T	120008940	C	T	120008940	2	4	501	1	0	0	0	0	0	0	0	1	4021	639	23	1		1	CT47B1	23	120008940	Silent	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	46197245	120008940	35261620	89	97136											
GPR101	83550	broad.mit.edu	37	chrX	136113733	136113733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agataaccagcacggttgagCggatgatgccgtgggccagg	10	6	16	9	3	0	3	0	2	0	1	0	4	0	4	3	4	4	2	3	4	1	2			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:136113733C>T	ENST00000298110.1	-	1	100	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	34						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACGGTTGAGCGGATGATGCC	0.607													50	20					0	0	0	0	T	136113733	C	T	136113733	3	4	501	1	0	0	0	0	1	0	0	0	6671	768	27	1	1428	1	GPR101	23	136113733	Missense_Mutation	SNP	C	TCGA-UF-A7JH-01A-21D-A34J-08	16104793	136113733	19156827	90	97137											
UBR4	23352	broad.mit.edu	37	chr1	19420579	19420579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaacaaaggtgctgttgaTctggtccaagagcatcacca	12	8	11	10	1	2	2	1	1	1	1	3	3	3	2	2	2	3	3	2	2	3	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:19420579T>C	ENST00000375267.2	-	95	13804	c.13801A>G	c.(13801-13803)Atc>Gtc	p.I4601V	UBR4_ENST00000375254.3_Missense_Mutation_p.I4601V|UBR4_ENST00000375217.2_Missense_Mutation_p.I4594V|UBR4_ENST00000375226.2_Missense_Mutation_p.I4577V|UBR4_ENST00000543981.1_Missense_Mutation_p.I265V|UBR4_ENST00000375224.1_Missense_Mutation_p.I308V|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000429347.2_Missense_Mutation_p.I124V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4601					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			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)		GTGCTGTTGATCTGGTCCAAG	0.517													7	31					0	0	0	0	C	19420579	T	C	19420579	3	2	502	1	0	0	0	0	1	0	0	0	17000	1435	50	5	1798	5	UBR4	1	19420579	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08		19420579	229830042	1	97138											
LRRC7	57554	broad.mit.edu	37	chr1	70504623	70504623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgaagccagtcagtccCaatgctggatgatgagatgc	10	9	12	10	1	2	2	1	2	1	1	4	5	3	3	2	1	3	1	2	1	2	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:70504623C>T	ENST00000310961.5	+	22	3435	c.3017C>T	c.(3016-3018)cCa>cTa	p.P1006L	LRRC7_ENST00000035383.5_Missense_Mutation_p.P1001L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P285L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1001						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTCAGTCCCAATGCTGGAT	0.468													4	63					0	0	0	0	T	70504623	C	T	70504623	3	4	502	1	0	0	0	0	1	0	0	0	9084	594	21	4	3076	4	LRRC7	1	70504623	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	51084044	70504623	178745998	2	97139											
AK5	26289	broad.mit.edu	37	chr1	77763264	77763264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtccaggaagtggaaagGgtactcagagtttgaaaatt	13	10	14	4	0	1	2	1	1	0	1	2	4	2	4	1	4	1	2	1	4	5	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:77763264G>A	ENST00000344720.5	+	4	1384	c.358G>A	c.(358-360)Ggt>Agt	p.G120S	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.G146S	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	146					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AAGTGGAAAGGGTACTCAGAG	0.388													9	110					0	0	0	0	A	77763264	G	A	77763264	3	1	502	1	0	0	0	0	1	0	0	0	443	1232	43	4	450	4	AK5	1	77763264	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	7258641	77763264	171487357	3	97140											
S1PR1	1901	broad.mit.edu	37	chr1	101705578	101705578	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagcgacccatcatcgcCggcatggaattcagccgcag	10	7	10	14	4	3	0	3	0	0	0	4	2	3	1	3	2	2	2	3	2	2	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:101705578C>T	ENST00000305352.6	+	2	1413	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	346					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCATCATCGCCGGCATGGAAT	0.552													10	166					0	0	0	0	T	101705578	C	T	101705578	2	4	502	1	0	0	0	0	0	0	0	1	13878	639	23	1		1	S1PR1	1	101705578	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	23942314	101705578	147545043	4	97141											
MCL1	4170	broad.mit.edu	37	chr1	150550932	150550932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgagacaacgatttcacatCgtcttcgtttttgatgtcca	9	15	7	10	4	2	2	1	1	1	1	6	4	3	2	1	0	1	1	1	0	1	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:150550932C>G	ENST00000369026.2	-	2	783	c.724G>C	c.(724-726)Gat>Cat	p.D242H	MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	242					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GATTTCACATCGTCTTCGTTT	0.493													11	125					0	0	0	0	G	150550932	C	G	150550932	3	3	502	1	0	0	0	0	1	0	0	0	9453	884	31	3	347	3	MCL1	1	150550932	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	48845354	150550932	98699689	5	97142											
MEX3A	92312	broad.mit.edu	37	chr1	156047275	156047275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggccgggcagagcaGgagccacaccaaaggcggcg	10	2	15	14	3	1	1	1	0	0	1	1	2	1	2	4	5	2	2	4	5	1	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:156047275G>A	ENST00000532414.2	-	2	652	c.653C>T	c.(652-654)cCt>cTt	p.P218L	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	218						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGGCAGAGCAGGAGCCACACC	0.667													4	25					0	0	0	0	A	156047275	G	A	156047275	3	1	502	1	0	0	0	0	1	0	0	0	9578	1000	35	4	913	4	MEX3A	1	156047275	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	5496343	156047275	93203346	6	97143											
DARC	2532	broad.mit.edu	37	chr1	159175698	159175698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctccctgggccacagaCtgggtgcaggccaggtccca	7	6	13	15	0	0	1	0	0	0	1	2	1	2	1	5	4	2	1	5	4	0	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:159175698C>A	ENST00000537147.1	+	3	1312	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	DARC_ENST00000368122.2_Missense_Mutation_p.L157M|DARC_ENST00000368121.2_Missense_Mutation_p.L159M			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	157					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGGCCACAGACTGGGTGCAGG	0.642													4	38					1	1	1	0	A	159175698	C	A	159175698	3	1	502	1	0	0	0	0	1	0	0	0	4273	564	20	4	502	4	DARC	1	159175698	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	3128423	159175698	90074923	7	97144											
TDRD5	163589	broad.mit.edu	37	chr1	179609542	179609542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacaaagcttccagctcagGctatcccttgttctttggct	8	13	7	13	0	2	0	1	0	1	0	4	0	4	0	2	2	2	5	2	2	2	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:179609542G>T	ENST00000444136.1	+	11	2012	c.1762G>T	c.(1762-1764)Gct>Tct	p.A588S	TDRD5_ENST00000367614.1_Missense_Mutation_p.A588S|TDRD5_ENST00000294848.8_Missense_Mutation_p.A588S	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	588					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCCAGCTCAGGCTATCCCTTG	0.413													6	125					8.12818e-05	9.28935e-05	1	0	T	179609542	G	T	179609542	3	4	502	1	0	0	0	0	1	0	0	0	15827	1203	42	4	1800	4	TDRD5	1	179609542	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	20433844	179609542	69641079	8	97145											
HMCN1	83872	broad.mit.edu	37	chr1	186014918	186014918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctattcccccacctactCttacttggttaaaagacggc	10	12	6	13	1	1	1	0	0	1	1	2	1	2	1	3	2	3	2	3	2	5	6			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:186014918C>T	ENST00000271588.4	+	41	6632	c.6403C>T	c.(6403-6405)Ctt>Ttt	p.L2135F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2135F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2135	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCACCTACTCTTACTTGGTT	0.408													4	85					0	0	0	0	T	186014918	C	T	186014918	3	4	502	1	0	0	0	0	1	0	0	0	7270	913	32	2	6565	2	HMCN1	1	186014918	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	6405376	186014918	63235703	9	97146											
LPIN1	23175	broad.mit.edu	37	chr2	11943120	11943120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctcttctgcctaatgtCagctacaagaagactctccg	9	11	6	15	1	4	2	1	0	3	2	6	2	5	2	3	0	3	1	3	0	4	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:11943120C>T	ENST00000256720.2	+	14	1959	c.1866C>T	c.(1864-1866)gtC>gtT	p.V622V	LPIN1_ENST00000449576.2_Silent_p.V707V|LPIN1_ENST00000425416.2_Silent_p.V628V|LPIN1_ENST00000396097.1_Silent_p.V352V|LPIN1_ENST00000404113.2_Silent_p.V123V|LPIN1_ENST00000396099.1_Silent_p.V664V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	622					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCCTAATGTCAGCTACAAGA	0.552													6	207					0	0	0	0	T	11943120	C	T	11943120	2	4	502	1	0	0	0	0	0	0	0	1	8982	813	29	2		2	LPIN1	2	11943120	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		11943120	231256253	10	97147											
REG1A	5967	broad.mit.edu	37	chr2	79350329	79350329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttctcctttgtctgcaaGttcaaaaactagaggcaact	13	12	7	9	0	3	1	1	0	2	1	4	1	3	1	1	1	3	4	1	1	6	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:79350329G>A	ENST00000233735.1	+	6	592	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	163	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTGTCTGCAAGTTCAAAAACT	0.413													5	73					0	0	0	0	A	79350329	G	A	79350329	2	1	502	1	0	0	0	0	0	0	0	1	13292	1020	36	4		4	REG1A	2	79350329	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	67407209	79350329	163849044	11	97148											
LRP1B	53353	broad.mit.edu	37	chr2	141459330	141459330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatattttaacctccttcagGttgactccaaggccggttct	9	14	7	11	1	2	1	1	1	1	0	4	1	4	1	4	3	1	2	4	3	4	6			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:141459330G>T	ENST00000389484.3	-	40	7358	c.6387C>A	c.(6385-6387)aaC>aaA	p.N2129K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2129					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCCTTCAGGTTGACTCCAA	0.398										TSP Lung(27;0.18)			11	131					0.00010058	0.000113991	1	0	T	141459330	G	T	141459330	3	4	502	1	0	0	0	0	1	0	0	0	9019	1252	44	4	7620	4	LRP1B	2	141459330	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	62109001	141459330	101740043	12	97149											
XIRP2	129446	broad.mit.edu	37	chr2	168103427	168103427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattataaaaggtgatttgaCatcaaccctaaattccctca	15	12	5	9	0	2	2	2	2	0	0	3	3	3	2	2	1	1	0	2	1	6	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:168103427C>A	ENST00000409195.1	+	9	5614	c.5525C>A	c.(5524-5526)aCa>aAa	p.T1842K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1620K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1842K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1667					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGTGATTTGACATCAACCCTA	0.388													14	109					4.3838e-07	5.27608e-07	1	0	A	168103427	C	A	168103427	3	1	502	1	0	0	0	0	1	0	0	0	17526	478	17	4	5555	4	XIRP2	2	168103427	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	26644097	168103427	75095946	13	97150											
HNRNPA3	220988	broad.mit.edu	37	chr2	178083789	178083789	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatggtggtggtgggaactAtaatgattttggaaattata	12	15	12	2	0	0	1	0	1	0	0	0	3	0	3	0	5	1	0	0	5	7	7			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:178083789A>C	ENST00000411529.2	+	9	971	c.920A>C	c.(919-921)tAt>tCt	p.Y307S	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.Y329S|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.Y329S	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	329	Gly-rich.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTGGGAACTATAATGATTTT	0.398													38	79					0	0	0	0	C	178083789	A	C	178083789	3	2	502	1	0	0	0	0	1	0	0	0	7310	449	16	5	1020	5	HNRNPA3	2	178083789	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	9980362	178083789	65115584	14	97151											
TTN	7273	broad.mit.edu	37	chr2	179628974	179628974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtgtcctgaagcggggtGatgatggcaggtggataaac	11	8	16	6	1	0	3	0	3	0	0	1	4	1	4	1	5	2	1	1	5	3	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:179628974G>A	ENST00000589042.1	-	43	10268	c.10044C>T	c.(10042-10044)atC>atT	p.I3348I	TTN_ENST00000342992.6_Silent_p.I3348I|TTN_ENST00000360870.5_Silent_p.I3348I|TTN_ENST00000591111.1_Silent_p.I3348I|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Silent_p.I3302I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I3302I|TTN_ENST00000342175.6_Silent_p.I3302I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3063	Ig-like 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGCGGGGTGATGATGGCAG	0.463													5	130					0	0	0	0	A	179628974	G	A	179628974	2	1	502	1	0	0	0	0	0	0	0	1	16831	1280	45	2		2	TTN	2	179628974	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	1545185	179628974	63570399	15	97152											
TTN	7273	broad.mit.edu	37	chr2	179664617	179664617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaattgtctttgtcttttTagcaggtacttcttcttcac	8	19	5	9	0	5	0	1	0	4	0	5	0	5	0	0	1	3	2	0	1	4	9			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:179664617T>C	ENST00000589042.1	-	5	828	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	TTN_ENST00000342992.6_Missense_Mutation_p.K202E|TTN_ENST00000360870.5_Missense_Mutation_p.K202E|TTN_ENST00000591111.1_Missense_Mutation_p.K202E|TTN_ENST00000460472.2_Missense_Mutation_p.K202E|TTN_ENST00000359218.5_Missense_Mutation_p.K202E|TTN_ENST00000342175.6_Missense_Mutation_p.K202E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	202							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTCTTTTTAGCAGGTACT	0.383													4	100					0	0	0	0	C	179664617	T	C	179664617	3	2	502	1	0	0	0	0	1	0	0	0	16831	1763	61	5	110816	5	TTN	2	179664617	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	35643	179664617	63534756	16	97153											
SESTD1	91404	broad.mit.edu	37	chr2	180008414	180008414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgctctcggagtgaatCtaataatttcataacctgtg	12	15	7	7	1	3	1	1	1	2	0	4	2	3	2	1	1	2	1	1	1	5	6			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:180008414C>A	ENST00000428443.3	-	9	1070	c.754G>T	c.(754-756)Gat>Tat	p.D252Y		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	252					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGGAGTGAATCTAATAATTTC	0.458													12	127					6.40141e-05	7.3779e-05	1	0	A	180008414	C	A	180008414	3	1	502	1	0	0	0	0	1	0	0	0	14214	913	32	2	1376	2	SESTD1	2	180008414	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	343797	180008414	63190959	17	97154											
GPR1	2825	broad.mit.edu	37	chr2	207041566	207041566	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatggatcaagtggatatAgtggtccaggctgatcactg	11	10	14	6	0	2	1	2	1	0	0	3	4	3	4	1	5	0	1	1	5	3	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:207041566A>T	ENST00000407325.2	-	3	768	c.406T>A	c.(406-408)Tat>Aat	p.Y136N	GPR1_ENST00000437420.1_Missense_Mutation_p.Y136N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	136						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AAGTGGATATAGTGGTCCAGG	0.458													5	83					0	0	0	0	T	207041566	A	T	207041566	3	4	502	1	0	0	0	0	1	0	0	0	6670	420	15	5	665	5	GPR1	2	207041566	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	27033152	207041566	36157807	18	97155											
ANO7	50636	broad.mit.edu	37	chr2	242128075	242128075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctccaagggccacccctcCccaccctctgtcccgcagtg	5	6	9	21	1	1	0	0	0	1	0	4	0	4	0	8	2	0	2	8	2	1	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:242128075C>T	ENST00000274979.8	+	1	152	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ANO7_ENST00000402530.3_Missense_Mutation_p.P17S|ANO7_ENST00000402430.3_Missense_Mutation_p.P17S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	17						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCACCCCTCCCCACCCTCTG	0.677													3	28					0	0	0	0	T	242128075	C	T	242128075	3	4	502	1	0	0	0	0	1	0	0	0	701	623	22	4	51	4	ANO7	2	242128075	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	35086509	242128075	1071298	19	97156											
SLITRK3	22865	broad.mit.edu	37	chr3	164906037	164906037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatttttctcatggtggCggaaccctgccaagtctccc	7	11	8	15	1	2	0	1	0	2	0	4	1	2	1	4	3	2	0	4	3	2	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr3:164906037C>A	ENST00000475390.1	-	2	3025	c.2582G>T	c.(2581-2583)cGc>cTc	p.R861L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R861L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	861						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCATGGTGGCGGAACCCTGC	0.582										HNSCC(40;0.11)			6	96					0.0215528	0.0220389	1	0	A	164906037	C	A	164906037	3	1	502	1	0	0	0	0	1	0	0	0	14832	768	27	3	355	3	SLITRK3	3	164906037	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		164906037	33116393	20	97157											
MYNN	55892	broad.mit.edu	37	chr3	169496709	169496709	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaacattgaattgaatcaAcagacttgtcttcttactct	13	14	6	8	0	4	3	1	2	3	1	4	4	4	4	0	1	3	0	0	1	5	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr3:169496709A>G	ENST00000349841.5	+	3	1083	c.420A>G	c.(418-420)caA>caG	p.Q140Q	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Silent_p.Q140Q|MYNN_ENST00000356716.4_Silent_p.Q140Q|MYNN_ENST00000392733.1_Silent_p.Q140Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	140						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AATTGAATCAACAGACTTGTC	0.343													7	77					0	0	0	0	G	169496709	A	G	169496709	2	3	502	1	0	0	0	0	0	0	0	1	10131	40	2	5		5	MYNN	3	169496709	Silent	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	4590672	169496709	28525721	21	97158											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540081	169540081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgccctgcgcgagctccgGctctaccagaccgacctgaa	8	5	10	18	5	1	2	0	1	1	1	2	4	2	2	5	1	3	2	5	1	2	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr3:169540081G>A	ENST00000340806.6	+	1	372	c.372G>A	c.(370-372)cgG>cgA	p.R124R		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	124										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCGAGCTCCGGCTCTACCAGA	0.582													8	65					0	0	0	0	A	169540081	G	A	169540081	2	1	502	1	0	0	0	0	0	0	0	1	9095	1190	42	4		4	LRRIQ4	3	169540081	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	43372	169540081	28482349	22	97159											
LGI2	55203	broad.mit.edu	37	chr4	25005442	25005442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgcattcggaagctcttCacagccagtacgtcctccat	8	13	7	13	2	2	0	1	0	1	0	5	1	4	1	3	1	4	3	3	1	2	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:25005442C>T	ENST00000382114.4	-	8	1454	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	423						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGAAGCTCTTCACAGCCAGTA	0.537													20	393					0	0	0	0	T	25005442	C	T	25005442	2	4	502	1	0	0	0	0	0	0	0	1	8806	813	29	2		2	LGI2	4	25005442	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		25005442	166148834	23	97160											
GABRA2	2555	broad.mit.edu	37	chr4	46305631	46305631	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattacagtatattcaccTggaagaaaaatttaagaagc	17	11	7	6	0	2	2	2	0	0	2	2	3	2	3	1	1	2	1	1	1	8	6			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:46305631T>G	ENST00000510861.1	-	8	877		c.e8-2		GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000515082.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATATTCACCTGGAAGAAAAA	0.328													4	53					0	0	0	0	G	46305631	T	G	46305631	5	3	502	1	0	0	0	0	0	0	1	0	6209	1594	55	5	665	5	GABRA2	4	46305631	Splice_Site	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	21300189	46305631	144848645	24	97161											
FAT4	79633	broad.mit.edu	37	chr4	126372252	126372252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttatgtttctggaattCttgatcgagaaaaagaagaa	16	13	9	3	1	2	5	0	1	2	4	3	7	2	6	0	1	0	1	0	1	6	5	rs61163957		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:126372252C>A	ENST00000394329.3	+	9	10094	c.10081C>A	c.(10081-10083)Ctt>Att	p.L3361I	FAT4_ENST00000335110.5_Missense_Mutation_p.L1659I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3361	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L3361V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTGGAATTCTTGATCGAGA	0.403													12	162					4.3838e-07	5.27608e-07	1	0	A	126372252	C	A	126372252	3	1	502	1	0	0	0	0	1	0	0	0	5737	913	32	2	10115	2	FAT4	4	126372252	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	80066621	126372252	64782024	25	97162											
MFAP3L	9848	broad.mit.edu	37	chr4	170913248	170913248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcatcatgcacaggcGggtgatattgaggaccatga	10	9	13	9	1	2	3	2	3	0	0	2	4	2	4	1	3	2	3	1	3	1	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:170913248G>A	ENST00000361618.3	-	3	818	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	MFAP3L_ENST00000393704.3_Missense_Mutation_p.R68C|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	171						integral to membrane|plasma membrane		p.R171S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGCACAGGCGGGTGATATTG	0.512													14	112					0	0	0	0	A	170913248	G	A	170913248	3	1	502	1	0	0	0	0	1	0	0	0	9585	1116	39	1	722	1	MFAP3L	4	170913248	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	44540996	170913248	20241028	26	97163											
FAT1	2195	broad.mit.edu	37	chr4	187542175	187542196	+	Frame_Shift_Del	DEL	TGGGGTTCCCATGTCATGCACT	TGGGGTTCCCATGTCATGCACT	-																															gcatactcagcaaataaacgTggggttcccatgtcatgcac																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:187542175_187542196delTGGGGTTCCCATGTCATGCACT	ENST00000441802.2	-	10	5753_5774	c.5544_5565delAGTGCATGACATGGGAACCCCA	c.(5542-5565)cafs	p.QVHDMGTP1848fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1848	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAAATAAACGTGGGGTTCCCATGTCATGCACTTGGACGGTAA	0.396										HNSCC(5;0.00058)			9	58	---	---	---	---					-	187542196	TGGGGTTCCCATGTCATGCACT	-	187542175	7	5	502	1	0	1	0	1	0	0	0	0	5734	1683	59	0	8273	0	FAT1	4	187542175	Frame_Shift_Del	DEL	TGGGGTTCCCATGTCATGCACT	TCGA-UF-A7JJ-01A-11D-A34J-08	16628927	187542175	3612101	27	97164											
PRDM9	56979	broad.mit.edu	37	chr5	23509628	23509628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacttcaccaaggaagaatGggcagagatgggagactggg	14	6	15	6	0	1	3	1	0	0	3	1	6	1	4	1	4	1	1	1	4	4	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:23509628G>T	ENST00000296682.3	+	3	301	c.119G>T	c.(118-120)tGg>tTg	p.W40L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	40	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGGAAGAATGGGCAGAGATG	0.423										HNSCC(3;0.000094)			13	226					2.61681e-11	3.42199e-11	1	0	T	23509628	G	T	23509628	3	4	502	1	0	0	0	0	1	0	0	0	12543	1357	47	4	125	4	PRDM9	5	23509628	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08		23509628	157405632	28	97165											
TARS	6897	broad.mit.edu	37	chr5	33461032	33461032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgatcatcggccaaggTcctggcgagaactgcctctg	7	11	12	11	2	2	2	1	1	1	1	4	3	3	2	3	3	2	1	3	3	2	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:33461032T>C	ENST00000265112.3	+	12	1587	c.1276T>C	c.(1276-1278)Tcc>Ccc	p.S426P	TARS_ENST00000455217.2_Missense_Mutation_p.S459P|TARS_ENST00000502553.1_Missense_Mutation_p.S426P|TARS_ENST00000541634.1_Missense_Mutation_p.S322P|TARS_ENST00000414361.2_Missense_Mutation_p.S305P	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	426					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCGGCCAAGGTCCTGGCGAGA	0.458													7	108					0	0	0	0	C	33461032	T	C	33461032	3	2	502	1	0	0	0	0	1	0	0	0	15650	1667	58	5	1322	5	TARS	5	33461032	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	9951404	33461032	147454228	29	97166											
OCLN	100506658	broad.mit.edu	37	chr5	68805003	68805003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaccaagcaatgacatatAtggtggagagatgcatgttc	13	10	11	7	0	0	2	0	1	0	1	1	4	0	3	1	2	3	4	1	2	4	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:68805003A>G	ENST00000355237.2	+	3	522	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.Y29C|OCLN_ENST00000396442.2_Missense_Mutation_p.Y29C|OCLN_ENST00000538151.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	29					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AATGACATATATGGTGGAGAG	0.388													5	157					0	0	0	0	G	68805003	A	G	68805003	3	3	502	1	0	0	0	0	1	0	0	0	10891	449	16	5	92	5	OCLN	5	68805003	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	35343971	68805003	112110257	30	97167											
BDP1	55814	broad.mit.edu	37	chr5	70761984	70761984	+	Frame_Shift_Del	DEL	G	G	-																															tggaagaagagacagatgatGggccattactggttcctcga																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:70761984delG	ENST00000358731.4	+	5	984	c.721delG	c.(721-723)ggfs	p.G241fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	241	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACAGATGATGGGCCATTACT	0.368													8	135	---	---	---	---					-	70761984	G	-	70761984	7	5	502	1	0	1	0	1	0	0	0	0	1399	1348	47	0	739	0	BDP1	5	70761984	Frame_Shift_Del	DEL	G	TCGA-UF-A7JJ-01A-11D-A34J-08	1956981	70761984	110153276	31	97168											
ARSK	153642	broad.mit.edu	37	chr5	94939042	94939042	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccattataaactaccctAaagtttctgcttctgtccac	11	15	3	12	0	2	0	0	0	2	0	4	0	4	0	3	0	3	2	3	0	6	7			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:94939042A>C	ENST00000380009.4	+	8	1628	c.1423A>C	c.(1423-1425)Aaa>Caa	p.K475Q		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	475						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AAACTACCCTAAAGTTTCTGC	0.333													7	56					0	0	0	0	C	94939042	A	C	94939042	3	2	502	1	0	0	0	0	1	0	0	0	1000	363	13	5	1453	5	ARSK	5	94939042	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	24177058	94939042	85976218	32	97169											
APC	324	broad.mit.edu	37	chr5	112174647	112174647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgagtgggttctaatcAtggaattaatcaaaatgtaa	17	12	8	4	1	3	0	2	0	1	0	4	2	3	1	0	2	0	2	0	2	7	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:112174647A>G	ENST00000457016.1	+	16	3736	c.3356A>G	c.(3355-3357)cAt>cGt	p.H1119R	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.H1119R|APC_ENST00000257430.4_Missense_Mutation_p.H1119R			P25054	APC_HUMAN	adenomatous polyposis coli	1119	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGTTCTAATCATGGAATTAAT	0.408		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			9	80					0	0	0	0	G	112174647	A	G	112174647	3	3	502	1	0	0	0	0	1	0	0	0	764	217	8	5	3414	5	APC	5	112174647	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	17235605	112174647	68740613	33	97170											
ZNF608	57507	broad.mit.edu	37	chr5	123982540	123982540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagctgcgatttacctgtCtcctcagttttattaggcac	9	14	8	10	1	2	1	1	0	1	1	3	2	2	1	2	1	3	3	2	1	4	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:123982540C>T	ENST00000306315.5	-	4	3972	c.3537G>A	c.(3535-3537)gaG>gaA	p.E1179E	ZNF608_ENST00000504926.1_Silent_p.E752E	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1179						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATTTACCTGTCTCCTCAGTTT	0.473													6	151					0	0	0	0	T	123982540	C	T	123982540	2	4	502	1	0	0	0	0	0	0	0	1	18129	912	32	2		2	ZNF608	5	123982540	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	11807893	123982540	56932720	34	97171											
FNIP1	96459	broad.mit.edu	37	chr5	130987629	130987629	+	Missense_Mutation	SNP	T	T	A																															gctactggccacttgaacagTccatttatccatgtcagcta																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:130987629T>A	ENST00000307968.7	-	15	3087	c.3088A>T	c.(3088-3090)Act>Tct	p.T1030S	FNIP1_ENST00000307954.8_Missense_Mutation_p.T1013S|FNIP1_ENST00000510461.1_Missense_Mutation_p.T1058S|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACTTGAACAGTCCATTTATCC	0.383													9	98					0	0	0	0	A	130987629	T	A	130987629	3	1	502	1	0	0	0	0	1	0	0	0	6020	1667	58	5	340	5	FNIP1	5	130987629	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	7005089	130987629	49927631	35	97172	1161	2									
FNIP1	96459	broad.mit.edu	37	chr5	130987631	130987631	+	Missense_Mutation	SNP	C	C	A																															tactggccacttgaacagtcCatttatccatgtcagctata																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:130987631C>A	ENST00000307968.7	-	15	3085	c.3086G>T	c.(3085-3087)tGg>tTg	p.W1029L	FNIP1_ENST00000307954.8_Missense_Mutation_p.W1012L|FNIP1_ENST00000510461.1_Missense_Mutation_p.W1057L|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGAACAGTCCATTTATCCAT	0.378													10	96					3.86212e-05	4.528e-05	1	0	A	130987631	C	A	130987631	3	1	502	1	0	0	0	0	1	0	0	0	6020	595	21	4	342	4	FNIP1	5	130987631	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	2	130987631	49927629	36	97173	1161	2									
SLC25A2	83884	broad.mit.edu	37	chr5	140683125	140683125	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtctggagatcactcagcTttgcctgcttgtccattcca	7	13	8	13	0	3	1	2	0	1	1	5	2	5	1	3	1	3	2	3	1	0	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:140683125T>G	ENST00000239451.4	-	1	487	c.308A>C	c.(307-309)aAg>aCg	p.K103T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	103					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ATCACTCAGCTTTGCCTGCTT	0.577													8	115					0	0	0	0	G	140683125	T	G	140683125	3	3	502	1	0	0	0	0	1	0	0	0	14570	1609	56	5	601	5	SLC25A2	5	140683125	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	9695494	140683125	40232135	37	97174											
CYFIP2	26999	broad.mit.edu	37	chr5	156741411	156741411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggagtatcgcgagctcttCgacctagccctgcggggtct	6	9	14	12	4	2	0	0	0	2	0	4	4	2	1	2	3	3	2	2	3	2	3	rs139943836	by1000genomes	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:156741411C>T	ENST00000347377.6	+	12	1601	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	CYFIP2_ENST00000541131.1_Silent_p.F315F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Silent_p.F194F|CYFIP2_ENST00000435847.2_Silent_p.F64F|CYFIP2_ENST00000377576.3_Silent_p.F390F|CYFIP2_ENST00000318218.6_Silent_p.F390F|CYFIP2_ENST00000521420.1_Silent_p.F364F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	390					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGAGCTCTTCGACCTAGCCC	0.597													4	69					0	0	0	0	T	156741411	C	T	156741411	2	4	502	1	0	0	0	0	0	0	0	1	4170	883	31	1		1	CYFIP2	5	156741411	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	16058286	156741411	24173849	38	97175											
BTNL8	79908	broad.mit.edu	37	chr5	180338426	180338426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgggctggttcccccGgcccacagcgaagtggaaag	7	6	14	14	3	0	0	0	0	0	0	3	2	2	1	4	4	1	2	4	4	2	1	rs146970792	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:180338426G>A	ENST00000231229.4	+	3	719	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	BTNL8_ENST00000511704.1_Missense_Mutation_p.R46Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37Q|BTNL8_ENST00000340184.4_Missense_Mutation_p.R162Q|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000508408.1_Missense_Mutation_p.R162Q|BTNL8_ENST00000505126.1_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	162	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTCCCCCGGCCCACAGCG	0.532													5	315					0	0	0	0	A	180338426	G	A	180338426	3	1	502	1	0	0	0	0	1	0	0	0	1576	1116	39	1	521	1	BTNL8	5	180338426	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	23597015	180338426	576834	39	97176											
RREB1	6239	broad.mit.edu	37	chr6	7230237	7230237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccggcggcaagaagacGcccgccatgcgcaaggtgct	8	3	15	15	6	0	2	0	0	0	2	0	2	0	2	3	3	2	3	3	3	3	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:7230237G>A	ENST00000379938.2	+	10	2442	c.1905G>A	c.(1903-1905)acG>acA	p.T635T	RREB1_ENST00000379933.3_Silent_p.T635T|RREB1_ENST00000334984.6_Silent_p.T635T|RREB1_ENST00000349384.6_Silent_p.T635T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	635					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAAGAAGACGCCCGCCATGC	0.642													6	31					0	0	0	0	A	7230237	G	A	7230237	2	1	502	1	0	0	0	0	0	0	0	1	13764	1074	38	1		1	RREB1	6	7230237	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08		7230237	163884830	40	97177											
UBD	10537	broad.mit.edu	37	chr6	29523954	29523954	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcttctctttgtcaatGccataagatgagaggcttct	9	15	9	8	0	4	2	1	1	3	2	5	3	4	2	1	2	1	1	1	2	2	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:29523954G>T	ENST00000377050.4	-	2	424	c.201C>A	c.(199-201)ggC>ggA	p.G67G	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	67	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTTGTCAATGCCATAAGATG	0.498													8	54					0.000157383	0.000175444	1	0	T	29523954	G	T	29523954	2	4	502	1	0	0	0	0	0	0	0	1	16939	1306	46	4		4	UBD	6	29523954	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	22293717	29523954	141591113	41	97178											
HLA-A	3105	broad.mit.edu	37	chr6	29912156	29912156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcatgagggtctgcccaagCccctcaccctgagatggggt	8	7	13	13	0	2	2	1	2	1	1	2	3	2	2	4	3	3	1	4	3	1	0	rs149871311		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:29912156C>A	ENST00000396634.1	+	6	1218	c.877C>A	c.(877-879)Ccc>Acc	p.P293T	HLA-A_ENST00000376806.5_Missense_Mutation_p.P293T|HLA-A_ENST00000376802.2_Missense_Mutation_p.P293T|HLA-A_ENST00000376809.5_Missense_Mutation_p.P293T			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	293	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTGCCCAAGCCCCTCACCCT	0.602									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	90					1.08611e-07	1.34282e-07	1	0	A	29912156	C	A	29912156	3	1	502	1	0	0	0	0	1	0	0	0	7245	739	26	4	891	4	HLA-A	6	29912156	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	388202	29912156	141202911	42	97179											
BCKDHB	594	broad.mit.edu	37	chr6	80838926	80838926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagtctttagatgcactgTtggcttgcgagacaaatatg	10	13	12	6	1	1	2	0	0	1	2	1	4	1	3	0	2	2	3	0	2	3	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:80838926T>C	ENST00000545529.1	+	3	351	c.323T>C	c.(322-324)gTt>gCt	p.V108A	BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.V108A|BCKDHB_ENST00000320393.6_Missense_Mutation_p.V108A|BCKDHB_ENST00000369760.4_Missense_Mutation_p.V108A			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	108					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AGATGCACTGTTGGCTTGCGA	0.264													4	199					0	0	0	0	C	80838926	T	C	80838926	3	2	502	1	0	0	0	0	1	0	0	0	1364	1725	60	5	333	5	BCKDHB	6	80838926	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	50926770	80838926	90276141	43	97180											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-																															acatagttagagaaaaggccAaaaaaaatacagagttaatt																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													7	157	---	---	---	---					-	88144700	A	-	88144700	7	5	502	1	0	1	0	1	0	0	0	0	2362	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-UF-A7JJ-01A-11D-A34J-08	7305774	88144700	82970367	44	97181											
GPR63	81491	broad.mit.edu	37	chr6	97246676	97246676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatagtggtgaaggcaCgtgttttaaagcccatgtca	13	11	10	7	1	2	1	2	1	0	0	2	1	2	1	1	2	1	2	1	2	6	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:97246676C>A	ENST00000229955.3	-	2	1277	c.932G>T	c.(931-933)cGt>cTt	p.R311L	GPR63_ENST00000417980.1_Missense_Mutation_p.R311L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	311						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGTGAAGGCACGTGTTTTAAA	0.478													6	61					0.00198382	0.00214126	1	0	A	97246676	C	A	97246676	3	1	502	1	0	0	0	0	1	0	0	0	6753	536	19	3	331	3	GPR63	6	97246676	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	9101976	97246676	73868391	45	97182											
PTPRK	5796	broad.mit.edu	37	chr6	128306869	128306869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggaccaccacttacctgCaatgtacaacgatggggcca	11	9	9	12	1	0	0	0	0	0	0	0	2	0	1	4	3	4	2	4	3	4	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:128306869C>T	ENST00000368227.3	-	23	3665	c.3299G>A	c.(3298-3300)tGc>tAc	p.C1100Y	PTPRK_ENST00000368226.4_Missense_Mutation_p.C1083Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.C1082Y|PTPRK_ENST00000368213.5_Missense_Mutation_p.C1089Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.C1115Y|PTPRK_ENST00000368210.3_Missense_Mutation_p.C1101Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.C1105Y			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1082	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACTTACCTGCAATGTACAAC	0.468													5	50					0	0	0	0	T	128306869	C	T	128306869	3	4	502	1	0	0	0	0	1	0	0	0	12887	710	25	4	1110	4	PTPRK	6	128306869	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	31060193	128306869	42808198	46	97183											
SAMD3	154075	broad.mit.edu	37	chr6	130497046	130497046	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagagatttccttgtctgGcctcttcggtgtccaaattt	7	15	9	10	1	2	1	0	0	2	1	5	2	4	1	3	2	0	1	3	2	2	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:130497046G>T	ENST00000532763.1	-	7	885	c.756C>A	c.(754-756)ggC>ggA	p.G252G	SAMD3_ENST00000368134.2_Silent_p.G254G|SAMD3_ENST00000457563.2_Silent_p.G278G|SAMD3_ENST00000439090.2_Silent_p.G254G|SAMD3_ENST00000437477.2_Silent_p.G254G			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	254										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TCCTTGTCTGGCCTCTTCGGT	0.353													8	241					0.00307968	0.00329792	1	0	T	130497046	G	T	130497046	2	4	502	1	0	0	0	0	0	0	0	1	13905	1190	42	4		4	SAMD3	6	130497046	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	2190177	130497046	40618021	47	97184											
PCLO	27445	broad.mit.edu	37	chr7	82584423	82584423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tataatcctctattagcatcCcaccatacaaaggctctttt	12	14	3	12	0	2	0	0	0	2	0	4	0	4	0	3	1	2	2	3	1	6	7			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:82584423C>A	ENST00000423517.2	-	5	6183	c.5846G>T	c.(5845-5847)gGg>gTg	p.G1949V	PCLO_ENST00000333891.8_Missense_Mutation_p.G1949V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1880					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTAGCATCCCACCATACAA	0.368													4	70					0.150653	0.151769	1	0	A	82584423	C	A	82584423	3	1	502	1	0	0	0	0	1	0	0	0	11654	623	22	4	9683	4	PCLO	7	82584423	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		82584423	76554240	48	97185											
COL1A2	1278	broad.mit.edu	37	chr7	94038707	94038707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgaagtgggtcttccagGcctctccggccccgttggac	4	10	14	13	2	2	1	0	1	2	0	4	2	3	2	5	5	0	1	5	5	1	2	rs67031201		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:94038707G>T	ENST00000297268.6	+	17	1337	c.866G>T	c.(865-867)gGc>gTc	p.G289V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	289					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCTTCCAGGCCTCTCCGGC	0.488										HNSCC(75;0.22)			10	90					1.49906e-05	1.78835e-05	1	0	T	94038707	G	T	94038707	3	4	502	1	0	0	0	0	1	0	0	0	3708	1203	42	4	932	4	COL1A2	7	94038707	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	11454284	94038707	65099956	49	97186											
LAMB4	22798	broad.mit.edu	37	chr7	107704425	107704425	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagagcattctccacactGagtacctgaaagaaagtggg	14	8	11	8	0	1	4	0	2	1	2	2	4	1	4	2	1	2	3	2	1	4	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:107704425G>A	ENST00000388781.3	-	22	2925	c.2842C>T	c.(2842-2844)Cag>Tag	p.Q948*	LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q948*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q948*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	948	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTCCACACTGAGTACCTGAA	0.448													4	80					0	0	0	0	A	107704425	G	A	107704425	4	1	502	1	0	0	0	0	0	1	0	0	8666	1299	45	2	2495	2	LAMB4	7	107704425	Nonsense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	13665718	107704425	51434238	50	97187											
SLC13A1	6561	broad.mit.edu	37	chr7	122755642	122755642	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggtcaaacatgggtacaAtccaagtacatatgccaagc	16	7	9	9	0	1	1	1	0	0	1	2	1	2	1	2	2	5	2	2	2	7	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:122755642A>T	ENST00000194130.2	-	15	1757	c.1718T>A	c.(1717-1719)aTt>aAt	p.I573N	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	573						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CATGGGTACAATCCAAGTACA	0.433													10	87					0	0	0	0	T	122755642	A	T	122755642	3	4	502	1	0	0	0	0	1	0	0	0	14479	101	4	5	73	5	SLC13A1	7	122755642	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	15051217	122755642	36383021	51	97188											
NUP205	23165	broad.mit.edu	37	chr7	135328051	135328051	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattatgacagtcatcgacAgagtgtcagcaagctacaaa	15	9	8	9	1	2	2	2	1	0	1	3	3	2	2	0	0	3	2	0	0	5	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:135328051A>T	ENST00000285968.6	+	39	5530	c.5504A>T	c.(5503-5505)cAg>cTg	p.Q1835L		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1835					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTCATCGACAGAGTGTCAGC	0.448													10	77					0	0	0	0	T	135328051	A	T	135328051	3	4	502	1	0	0	0	0	1	0	0	0	10830	188	7	5	5658	5	NUP205	7	135328051	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	12572409	135328051	23810612	52	97189											
NOBOX	135935	broad.mit.edu	37	chr7	144098481	144098481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctagagttctgtctttgtGgggagccctggagcgggggg	4	10	20	7	1	2	1	0	0	2	1	2	3	2	3	1	7	2	2	1	7	1	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:144098481G>T	ENST00000467773.1	-	4	501	c.502C>A	c.(502-504)Cac>Aac	p.H168N	NOBOX_ENST00000223140.5_Missense_Mutation_p.H83N|NOBOX_ENST00000483238.1_Missense_Mutation_p.H168N	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	168					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTGTCTTTGTGGGGAGCCCTG	0.617													4	45					0.150653	0.151769	1	0	T	144098481	G	T	144098481	3	4	502	1	0	0	0	0	1	0	0	0	10582	1348	47	4	1505	4	NOBOX	7	144098481	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	8770430	144098481	15040182	53	97190											
CUL1	8454	broad.mit.edu	37	chr7	148451163	148451163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaaaaggggcagacacctgGaggagctcagtttgttggcc	11	7	15	8	0	1	1	1	0	0	1	1	4	1	3	2	5	1	4	2	5	2	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:148451163G>A	ENST00000325222.4	+	3	515	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CUL1_ENST00000602748.1_Missense_Mutation_p.G79E|CUL1_ENST00000409469.1_Missense_Mutation_p.G79E	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	79				Missing (in Ref. 1; AAC50544).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAGACACCTGGAGGAGCTCAG	0.383													10	55					0	0	0	0	A	148451163	G	A	148451163	3	1	502	1	0	0	0	0	1	0	0	0	4086	1174	41	2	242	2	CUL1	7	148451163	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	4352682	148451163	10687500	54	97191											
CSMD1	64478	broad.mit.edu	37	chr8	3216729	3216729	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcccccacccaggcaggtAagcttggtggcaccttctaa	8	7	11	15	1	1	0	0	0	1	0	1	0	1	0	4	5	1	4	4	5	2	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr8:3216729A>G	ENST00000520002.1	-	22	3807	c.3252T>C	c.(3250-3252)ctT>ctC	p.L1084L	CSMD1_ENST00000542608.1_Silent_p.L1083L|CSMD1_ENST00000539096.1_Silent_p.L1083L|CSMD1_ENST00000537824.1_Silent_p.L1083L|CSMD1_ENST00000602723.1_Silent_p.L1084L|CSMD1_ENST00000400186.3_Silent_p.L1084L|CSMD1_ENST00000602557.1_Silent_p.L1084L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1084	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCAGGCAGGTAAGCTTGGTGG	0.557													10	86					0	0	0	0	G	3216729	A	G	3216729	2	3	502	1	0	0	0	0	0	0	0	1	3976	349	13	5		5	CSMD1	8	3216729	Silent	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08		3216729	143147293	55	97192											
PABPC1	26986	broad.mit.edu	37	chr8	101718959	101718959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatatttatactgtggaaCggtgcggacagcaggagtag	12	9	14	6	2	0	0	0	0	0	0	0	3	0	3	0	4	5	3	0	4	5	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr8:101718959C>A	ENST00000318607.5	-	11	2650	c.1522G>T	c.(1522-1524)Gtt>Ttt	p.V508F	PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.V463F|PABPC1_ENST00000522387.1_Missense_Mutation_p.V476F	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	508					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			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)			TACTGTGGAACGGTGCGGACA	0.438													15	136					1.15088e-07	1.41008e-07	1	0	A	101718959	C	A	101718959	3	1	502	1	0	0	0	0	1	0	0	0	11434	536	19	3	404	3	PABPC1	8	101718959	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	98502230	101718959	44645063	56	97193											
SLC25A32	81034	broad.mit.edu	37	chr8	104419870	104419870	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatctactcacaagaaaaaGtagagtccccaggataaacc	19	6	6	10	0	2	2	1	0	1	2	3	3	3	3	3	1	2	1	3	1	8	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr8:104419870G>T	ENST00000297578.4	-	2	463	c.297C>A	c.(295-297)taC>taA	p.Y99*	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	99					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ACAAGAAAAAGTAGAGTCCCC	0.343													18	170					6.49762e-13	8.57938e-13	1	0	T	104419870	G	T	104419870	4	4	502	1	0	0	0	0	0	1	0	0	14584	1024	36	4	674	4	SLC25A32	8	104419870	Nonsense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	2700911	104419870	41944152	57	97194											
ADCY8	114	broad.mit.edu	37	chr8	132052065	132052065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctttggcccaagaaatagCgctggtagaggcgttccaaa	11	8	12	10	2	0	2	0	0	0	2	1	2	1	2	3	3	1	3	3	3	5	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr8:132052065C>A	ENST00000286355.5	-	1	2607	c.515G>T	c.(514-516)cGc>cTc	p.R172L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R172L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	172					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R172H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAAGAAATAGCGCTGGTAGAG	0.532										HNSCC(32;0.087)			15	75					9.16793e-09	1.17626e-08	1	0	A	132052065	C	A	132052065	3	1	502	1	0	0	0	0	1	0	0	0	300	768	27	3	3312	3	ADCY8	8	132052065	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	27632195	132052065	14311957	58	97195											
CNTLN	54875	broad.mit.edu	37	chr9	17330664	17330664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccttatcaagcttagaaaCgttaatggtttcacagaagt	14	13	7	7	1	2	2	2	0	0	2	3	2	3	2	1	1	2	3	1	1	6	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr9:17330664C>T	ENST00000380647.3	+	9	1460	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	CNTLN_ENST00000262360.5_Missense_Mutation_p.T459M|CNTLN_ENST00000425824.1_Missense_Mutation_p.T459M			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	459						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCTTAGAAACGTTAATGGTT	0.294													12	195					0	0	0	0	T	17330664	C	T	17330664	3	4	502	1	0	0	0	0	1	0	0	0	3669	536	19	1	1440	1	CNTLN	9	17330664	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		17330664	123882767	59	97196											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130658593	130658593	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtggccctgggggCagggatgtgggttcacacct	5	8	17	11	0	1	0	1	0	0	0	1	1	1	1	3	6	1	3	3	6	0	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr9:130658593C>A	ENST00000373146.1	-	3	224	c.45G>T	c.(43-45)ctG>ctT	p.L15L	ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000291839.5_Silent_p.L15L|ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.L15L|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	15					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCCTGGGGGCAGGGATGTGG	0.567													4	71					0.014758	0.0152052	1	0	A	130658593	C	A	130658593	2	1	502	1	0	0	0	0	0	0	0	1	15318	697	25	4		4	ST6GALNAC6	9	130658593	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	113327929	130658593	10554838	60	97197											
ADAMTS14	140766	broad.mit.edu	37	chr10	72489903	72489903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctcacgcagcctggagCaggtgtgtcgctgggcacac	7	6	13	15	2	1	0	1	0	0	0	2	1	1	1	3	3	2	4	3	3	0	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr10:72489903C>A	ENST00000373208.1	+	6	1000	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.Q334K	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	334	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGCCTGGAGCAGGTGTGTCG	0.667													10	63					1.08611e-07	1.34282e-07	1	0	A	72489903	C	A	72489903	3	1	502	1	0	0	0	0	1	0	0	0	259	711	25	4	1022	4	ADAMTS14	10	72489903	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		72489903	63044844	61	97198											
EXOC6	54536	broad.mit.edu	37	chr10	94675516	94675516	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctctcttcaaaataggCacagcatcagaaaaccttca	14	11	4	12	0	5	1	3	0	2	1	7	1	5	1	1	1	2	2	1	1	5	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr10:94675516C>T	ENST00000371552.4	+	7	679	c.648_splice	c.e7-1	p.A217_splice	EXOC6_ENST00000443748.2_Splice_Site_p.A222_splice|EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000371547.4_Splice_Site_p.A238_splice|EXOC6_ENST00000260762.6_Splice_Site_p.A222_splice	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	222					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TCAAAATAGGCACAGCATCAG	0.279													12	69					0	0	0	0	T	94675516	C	T	94675516	5	4	502	1	0	0	0	0	0	0	1	0	5345	724	25	4	781	4	EXOC6	10	94675516	Splice_Site	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	22185613	94675516	40859231	62	97199											
ADD3	120	broad.mit.edu	37	chr10	111881990	111881990	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgaatatgggttcccaTcaaaaatggaaggttggcga	12	10	14	5	1	1	1	1	1	0	0	2	3	2	2	1	5	0	2	1	5	5	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr10:111881990T>A	ENST00000277900.8	+	9	1448	c.1083T>A	c.(1081-1083)caT>caA	p.H361Q	ADD3_ENST00000360162.3_Missense_Mutation_p.H361Q|ADD3_ENST00000356080.4_Missense_Mutation_p.H361Q	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	361						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGGGTTCCCATCAAAAATGGA	0.418													4	136					0	0	0	0	A	111881990	T	A	111881990	3	1	502	1	0	0	0	0	1	0	0	0	306	1432	50	5	1113	5	ADD3	10	111881990	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	17206474	111881990	23652757	63	97200											
OR52D1	390066	broad.mit.edu	37	chr11	5509965	5509965	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaacctcagtgataaccAtcttccagacaccttcttct	10	13	3	15	0	4	2	1	1	3	1	6	2	6	2	5	0	2	0	5	0	2	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:5509965A>G	ENST00000322641.5	+	1	51	c.29A>G	c.(28-30)cAt>cGt	p.H10R	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGATAACCATCTTCCAGAC	0.458													12	86					0	0	0	0	G	5509965	A	G	5509965	3	3	502	1	0	0	0	0	1	0	0	0	11185	217	8	5	31	5	OR52D1	11	5509965	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08		5509965	129496551	64	97201											
OR2D3	120775	broad.mit.edu	37	chr11	6942471	6942471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccatgtatttttttcttaGaaatctctcctttgcagatc	8	19	4	10	0	2	2	0	0	2	2	6	2	4	2	2	0	1	2	2	0	3	6			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:6942471G>C	ENST00000317834.3	+	1	267	c.239G>C	c.(238-240)aGa>aCa	p.R80T		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTTTCTTAGAAATCTCTCC	0.408													8	143					0	0	0	0	C	6942471	G	C	6942471	3	2	502	1	0	0	0	0	1	0	0	0	11066	942	33	2	241	2	OR2D3	11	6942471	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	1432506	6942471	128064045	65	97202											
CRY2	1408	broad.mit.edu	37	chr11	45880359	45880359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggatgcagccatcatgaaGatggccaaggaggctggtgt	10	7	16	8	1	1	2	1	1	0	1	1	4	1	4	2	5	2	2	2	5	2	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:45880359G>A	ENST00000443527.2	+	3	487	c.465G>A	c.(463-465)aaG>aaA	p.K155K	CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Silent_p.K73K	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	134	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCATCATGAAGATGGCCAAGG	0.512													5	61					0	0	0	0	A	45880359	G	A	45880359	2	1	502	1	0	0	0	0	0	0	0	1	3934	933	33	2		2	CRY2	11	45880359	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	38937888	45880359	89126157	66	97203											
TRIM48	79097	broad.mit.edu	37	chr11	55036772	55036772	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatctagcgctcagggcAgggcccatcactggactgag	9	7	13	12	1	3	2	2	2	1	0	3	3	3	3	1	3	1	2	1	3	2	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:55036772A>C	ENST00000417545.2	+	5	719	c.633A>C	c.(631-633)gcA>gcC	p.A211A		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	195						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CGCTCAGGGCAGGGCCCATCA	0.498													9	87					0	0	0	0	C	55036772	A	C	55036772	2	2	502	1	0	0	0	0	0	0	0	1	16618	175	7	5		5	TRIM48	11	55036772	Silent	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	9156413	55036772	79969744	67	97204											
STX5	6811	broad.mit.edu	37	chr11	62592568	62592568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagaactgctctctccGgctcctctgctgcttcaggt	4	11	11	15	2	3	1	1	0	2	1	6	2	5	1	3	3	4	4	3	3	1	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:62592568G>A	ENST00000294179.3	-	8	772	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	STX5_ENST00000377897.4_Missense_Mutation_p.R207W|STX5_ENST00000541317.1_Missense_Mutation_p.R111W|STX5_ENST00000394690.1_Missense_Mutation_p.R153W	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	207					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGCTCTCTCCGGCTCCTCTGC	0.582													9	61					0	0	0	0	A	62592568	G	A	62592568	3	1	502	1	0	0	0	0	1	0	0	0	15438	1115	39	1	464	1	STX5	11	62592568	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	7555796	62592568	72413948	68	97205											
ACTN3	89	broad.mit.edu	37	chr11	66324669	66324669	+	RNA	DEL	G	G	-																															caggaaaacgagaagctgatGgaggagtatgagaagcttgc																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:66324669delG	ENST00000513398.1	+	0	967				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGAAGCTGATGGAGGAGTATG	0.602													2	4	---	---	---	---					-	66324669	G	-	66324669	6	5	502	0	1	1	0	1	0	0	0	0	206	1348	47	0		0	ACTN3	11	66324669	RNA	DEL	G	TCGA-UF-A7JJ-01A-11D-A34J-08	3732101	66324669	68681847	69	97206											
MYO7A	4647	broad.mit.edu	37	chr11	76893069	76893069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccctgcctgacgaggatGaggaggacctctctgagtat	8	9	13	11	1	1	3	0	3	1	0	2	7	1	6	4	3	2	1	4	3	1	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:76893069G>C	ENST00000409709.3	+	24	3249	c.2977G>C	c.(2977-2979)Gag>Cag	p.E993Q	MYO7A_ENST00000409619.2_Missense_Mutation_p.E982Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E993Q|MYO7A_ENST00000458637.2_Missense_Mutation_p.E993Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	993					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGACGAGGATGAGGAGGACCT	0.607													8	61					0	0	0	0	C	76893069	G	C	76893069	3	2	502	1	0	0	0	0	1	0	0	0	10152	1291	45	2	3067	2	MYO7A	11	76893069	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	10568400	76893069	58113447	70	97207											
CNTN5	53942	broad.mit.edu	37	chr11	100126556	100126556	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtacggccacactgtcCtggagcccagcagctgacaa	12	5	11	13	1	0	1	0	1	0	0	1	3	1	2	3	2	4	3	3	2	3	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:100126556C>A	ENST00000524871.1	+	17	2360	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	CNTN5_ENST00000527185.1_Silent_p.S690S|CNTN5_ENST00000528682.1_Silent_p.S690S|CNTN5_ENST00000279463.3_Silent_p.S690S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Silent_p.S616S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	690	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCACACTGTCCTGGAGCCCAG	0.507													13	66					0.00136819	0.0015006	1	0	A	100126556	C	A	100126556	2	1	502	1	0	0	0	0	0	0	0	1	3674	668	24	4		4	CNTN5	11	100126556	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	23233487	100126556	34879960	71	97208											
MMP13	4322	broad.mit.edu	37	chr11	102825259	102825259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaattcagaggagttacatCggaccaaactttgaaggctt	15	10	9	7	1	1	2	1	1	0	1	2	4	1	4	1	3	2	2	1	3	5	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:102825259C>T	ENST00000260302.3	-	3	467	c.439G>A	c.(439-441)Gat>Aat	p.D147N	MMP13_ENST00000340273.4_Missense_Mutation_p.D147N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	147					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGAGTTACATCGGACCAAACT	0.353													5	74					0	0	0	0	T	102825259	C	T	102825259	3	4	502	1	0	0	0	0	1	0	0	0	9721	884	31	1	1008	1	MMP13	11	102825259	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	2698703	102825259	32181257	72	97209											
RPS25	6230	broad.mit.edu	37	chr11	118888251	118888251	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaactttgcctttggacCacttctgctcaccaaaacaa	11	10	5	15	1	2	0	1	0	1	0	2	2	2	1	4	1	4	1	4	1	4	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:118888251C>T	ENST00000527673.1	-	3	509	c.104G>A	c.(103-105)tGg>tAg	p.W35*		NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	35					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCCTTTGGACCACTTCTGCTC	0.408													13	82					0	0	0	0	T	118888251	C	T	118888251	4	4	502	1	0	0	0	0	0	1	0	0	13721	595	21	4	281	4	RPS25	11	118888251	Nonsense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	16062992	118888251	16118265	73	97210											
SIAE	54414	broad.mit.edu	37	chr11	124507096	124507096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgatggtcactgcaacaggaGatctaataagagagccataa	16	7	10	8	1	2	2	1	0	1	2	2	5	2	2	1	2	3	1	1	2	4	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:124507096G>C	ENST00000263593.3	-	10	1495	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	SIAE_ENST00000545756.1_Missense_Mutation_p.I406M			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	441						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCAACAGGAGATCTAATAAG	0.493													17	144					0	0	0	0	C	124507096	G	C	124507096	3	2	502	1	0	0	0	0	1	0	0	0	14386	932	33	2	252	2	SIAE	11	124507096	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	5618845	124507096	10499420	74	97211											
PRB2	653247	broad.mit.edu	37	chr12	11546867	11546867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggaggagatgggggacCttgaggtttgttgcctcctt	5	13	15	8	0	0	2	0	1	0	1	2	5	2	4	4	5	1	2	4	5	0	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:11546867C>A	ENST00000389362.4	-	3	180	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GATGGGGGACCTTGAGGTTTG	0.552													27	278					4.06085e-26	5.41447e-26	1	0	A	11546867	C	A	11546867	3	1	502	1	0	0	0	0	1	0	0	0	12523	681	24	4	1109	4	PRB2	12	11546867	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		11546867	122305028	75	97212											
LRP1	4035	broad.mit.edu	37	chr12	57598229	57598229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacgagttccagtgcaacaAcaccttgtgcaagccgctgg	10	7	12	12	2	0	0	0	0	0	0	1	2	1	1	3	2	5	4	3	2	3	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:57598229A>G	ENST00000243077.3	+	71	11454	c.10988A>G	c.(10987-10989)aAc>aGc	p.N3663S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3663	LDL-receptor class A 29.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGTGCAACAACACCTTGTGC	0.612													8	50					0	0	0	0	G	57598229	A	G	57598229	3	3	502	1	0	0	0	0	1	0	0	0	9015	43	2	5	11270	5	LRP1	12	57598229	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	46051362	57598229	76253666	76	97213											
DTX3	196403	broad.mit.edu	37	chr12	58002418	58002418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaggcgtttgaccagcGtctcaccttcactatcggca	8	9	9	15	4	2	1	2	1	1	0	4	1	2	1	3	2	1	3	3	2	2	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:58002418G>A	ENST00000548198.1	+	4	2370	c.866G>A	c.(865-867)cGt>cAt	p.R289H	DTX3_ENST00000548804.1_Missense_Mutation_p.R289H|DTX3_ENST00000551632.1_Missense_Mutation_p.R292H|DTX3_ENST00000337737.3_Missense_Mutation_p.R289H			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	289					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					TTTGACCAGCGTCTCACCTTC	0.612													5	33					0	0	0	0	A	58002418	G	A	58002418	3	1	502	1	0	0	0	0	1	0	0	0	4831	1145	40	1	876	1	DTX3	12	58002418	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	404189	58002418	75849477	77	97214											
MGAT4C	25834	broad.mit.edu	37	chr12	86373732	86373732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagagtttaccaatgtagcCaagcttagagaattcaagag	16	10	9	6	0	1	3	1	0	0	3	1	4	1	3	2	0	3	3	2	0	8	6			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:86373732C>A	ENST00000604798.1	-	8	1976	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G258C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G258C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G258C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G287C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G258C			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	258					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAATGTAGCCAAGCTTAGAG	0.363													6	103					1.06961e-07	1.34282e-07	1	0	A	86373732	C	A	86373732	3	1	502	1	0	0	0	0	1	0	0	0	9616	594	21	4	668	4	MGAT4C	12	86373732	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	28371314	86373732	47478163	78	97215											
ARL6IP4	51329	broad.mit.edu	37	chr12	123467101	123467101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaggtgggtgtggcccctCtgcctgccatccgcccccag	5	7	12	17	1	1	0	0	0	1	0	2	0	2	0	7	3	2	0	7	3	1	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:123467101C>T	ENST00000392435.2	+	5	1182	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000412505.2_Intron|ARL6IP4_ENST00000439686.2_Intron|ARL6IP4_ENST00000426960.2_Intron|ARL6IP4_ENST00000315580.5_Intron|ARL6IP4_ENST00000453766.2_Intron|ARL6IP4_ENST00000543566.1_Intron|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000454885.2_Intron			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	0					RNA splicing	nucleus						all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		TGTGGCCCCTCTGCCTGCCAT	0.587													4	55					0	0	0	0	T	123467101	C	T	123467101	2	4	502	1	0	0	0	0	0	0	0	1	947	912	32	2		2	ARL6IP4	12	123467101	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	37093369	123467101	10384794	79	97216											
TUBA3C	7278	broad.mit.edu	37	chr13	19751433	19751433	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggacacgatctgcccaatCaggcgattgaggttggtgta	10	9	14	8	2	2	1	1	1	1	0	2	5	2	2	1	4	1	2	1	4	2	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr13:19751433C>G	ENST00000400113.3	-	4	794	c.690G>C	c.(688-690)ctG>ctC	p.L230L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	230					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCTGCCCAATCAGGCGATTGA	0.557													11	172					0	0	0	0	G	19751433	C	G	19751433	2	3	502	1	0	0	0	0	0	0	0	1	16842	813	29	2		2	TUBA3C	13	19751433	Silent	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		19751433	95418445	80	97217											
ITGBL1	9358	broad.mit.edu	37	chr13	102220053	102220053	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttcaatccccaggccAtggtaagtgtgactgtggca	8	12	12	9	0	1	1	1	1	0	0	2	1	2	1	3	3	0	4	3	3	2	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr13:102220053A>T	ENST00000545560.2	+	0	269				ITGBL1_ENST00000376180.3_Missense_Mutation_p.H107L|ITGBL1_ENST00000376162.3_Missense_Mutation_p.H14L	NM_001271754.1	NP_001258683.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)						cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCCCAGGCCATGGTAAGTGT	0.433													9	134					0	0	0	0	T	102220053	A	T	102220053	1	4	502	1	0	0	0	0	0	0	0	0	7955	217	8	5		5	ITGBL1	13	102220053	Translation_Start_Site	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	82468620	102220053	12949825	81	97218											
RBM25	58517	broad.mit.edu	37	chr14	73538409	73538409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcccagcactcccaccaggGatcccacccccgcagtttcc	8	6	6	21	1	0	0	0	0	0	0	4	1	4	1	7	1	1	3	7	1	0	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr14:73538409G>T	ENST00000261973.7	+	2	345	c.60G>T	c.(58-60)ggG>ggT	p.G20G	RBM25_ENST00000540173.1_Silent_p.G20G|RBM25_ENST00000527432.1_Silent_p.G20G|RBM25_ENST00000526754.1_Silent_p.G20G|RBM25_ENST00000525321.1_Silent_p.G20G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	20					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCCCACCAGGGATCCCACCCC	0.453													5	77					0.014758	0.0152052	1	0	T	73538409	G	T	73538409	2	4	502	1	0	0	0	0	0	0	0	1	13207	1161	41	2		2	RBM25	14	73538409	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08		73538409	33811131	82	97219											
SPATA7	55812	broad.mit.edu	37	chr14	88892747	88892747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagttcctccccgtccAgtgtggattatgcagcctcc	6	11	8	16	1	0	0	0	0	0	0	5	1	5	1	7	1	2	2	7	1	1	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr14:88892747A>G	ENST00000556553.1	+	6	1007	c.448A>G	c.(448-450)Agt>Ggt	p.S150G	SPATA7_ENST00000393545.4_Missense_Mutation_p.S182G|SPATA7_ENST00000356583.5_Missense_Mutation_p.S150G|SPATA7_ENST00000045347.7_Missense_Mutation_p.S182G			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	182					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CTCCCCGTCCAGTGTGGATTA	0.512													17	123					0	0	0	0	G	88892747	A	G	88892747	3	3	502	1	0	0	0	0	1	0	0	0	15104	188	7	5	566	5	SPATA7	14	88892747	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	15354338	88892747	18456793	83	97220											
SHC4	399694	broad.mit.edu	37	chr15	49148244	49148244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacaccacctactggtGgctgcttccctggaatttca	9	11	8	13	0	1	1	1	1	0	0	2	2	2	2	3	3	3	2	3	3	3	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:49148244G>A	ENST00000332408.4	-	8	1576	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	SHC4_ENST00000396535.3_Missense_Mutation_p.P140L|SHC4_ENST00000537958.1_Missense_Mutation_p.P97L	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	383	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACCTACTGGTGGCTGCTTCCC	0.438													9	135					0	0	0	0	A	49148244	G	A	49148244	3	1	502	1	0	0	0	0	1	0	0	0	14361	1348	47	4	764	4	SHC4	15	49148244	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08		49148244	53383148	84	97221											
ADAMTS7	11173	broad.mit.edu	37	chr15	79056182	79056182	+	Frame_Shift_Del	DEL	G	G	-																															tcaccaccgccacaggcctcGgagcactgggtgggcaggga																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:79056182delG	ENST00000388820.4	-	22	4809	c.4599delC	c.(4597-4599)tcfs	p.S1533fs		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1533	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACAGGCCTCGGAGCACTGGG	0.687													2	4	---	---	---	---					-	79056182	G	-	79056182	7	5	502	1	0	1	0	1	0	0	0	0	271	1103	39	0	473	0	ADAMTS7	15	79056182	Frame_Shift_Del	DEL	G	TCGA-UF-A7JJ-01A-11D-A34J-08	29907938	79056182	23475210	85	97222											
NTRK3	4916	broad.mit.edu	37	chr15	88423650	88423650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatggggagcatggtgtGtcctcccacctaaaaggggt	9	8	15	9	1	0	0	0	0	0	0	2	2	2	1	3	5	1	1	3	5	3	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:88423650G>T	ENST00000394480.1	-	18	2464	c.2143C>A	c.(2143-2145)Cac>Aac	p.H715N	NTRK3_ENST00000360948.2_Missense_Mutation_p.H729N|NTRK3_ENST00000357724.2_Missense_Mutation_p.H721N|NTRK3_ENST00000557856.1_Missense_Mutation_p.H707N|NTRK3_ENST00000355254.2_Missense_Mutation_p.H715N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	729	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCATGGTGTGTCCTCCCACC	0.507			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			5	28					0.000602214	0.000665863	1	0	T	88423650	G	T	88423650	3	4	502	1	0	0	0	0	1	0	0	0	10779	1377	48	4	342	4	NTRK3	15	88423650	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	9367468	88423650	14107742	86	97223											
NR2F2	7026	broad.mit.edu	37	chr15	96875608	96875608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcgagcggcaagcactacGgccagttcacgtgcgagggc	9	5	15	12	5	1	0	1	0	0	0	2	2	1	0	1	3	4	3	1	3	2	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:96875608G>T	ENST00000394166.3	+	1	1663	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	92					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAAGCACTACGGCCAGTTCAC	0.652													4	15					0.014758	0.0152052	1	0	T	96875608	G	T	96875608	3	4	502	1	0	0	0	0	1	0	0	0	10699	1116	39	3	323	3	NR2F2	15	96875608	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	8451958	96875608	5655784	87	97224											
CREBBP	1387	broad.mit.edu	37	chr16	3779596	3779596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgatgagctgcttgcacaCcgggcagcccccgttggtct	5	8	14	14	3	1	1	0	1	1	0	1	2	1	1	3	3	4	5	3	3	0	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:3779596C>A	ENST00000262367.5	-	31	6261	c.5452G>T	c.(5452-5454)Gtg>Ttg	p.V1818L	CREBBP_ENST00000382070.3_Missense_Mutation_p.V1780L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1818	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTTGCACACCGGGCAGCCC	0.607			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						11	109					3.86212e-05	4.528e-05	1	0	A	3779596	C	A	3779596	3	1	502	1	0	0	0	0	1	0	0	0	3891	507	18	4	1880	4	CREBBP	16	3779596	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		3779596	86575157	88	97225											
GP2	2813	broad.mit.edu	37	chr16	20327363	20327363	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgacttcttgagcaagaCtgtagggatgatgaactttt	11	14	10	6	0	1	5	0	4	1	1	1	6	1	6	0	1	2	2	0	1	3	6			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:20327363C>A	ENST00000302555.5	-	9	1566		c.e9-1		GP2_ENST00000381360.5_Splice_Site|GP2_ENST00000381362.4_Splice_Site|GP2_ENST00000341642.5_Splice_Site			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)							anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGAGCAAGACTGTAGGGATG	0.478													6	80					1.26484e-09	1.63828e-09	1	0	A	20327363	C	A	20327363	5	1	502	1	0	0	0	0	0	0	1	0	6631	579	20	4	200	4	GP2	16	20327363	Splice_Site	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	16547767	20327363	70027390	89	97226											
PRKCB	5579	broad.mit.edu	37	chr16	24104219	24104219	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagagcaaacagaagaccAaaaccatcaaatgctccctc	17	5	7	12	0	1	3	1	1	0	3	3	4	2	3	3	0	4	2	3	0	5	0			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:24104219A>G	ENST00000303531.7	+	6	789	c.637A>G	c.(637-639)Aaa>Gaa	p.K213E	PRKCB_ENST00000321728.7_Missense_Mutation_p.K213E|PRKCB_ENST00000482000.1_3'UTR	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	213	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ACAGAAGACCAAAACCATCAA	0.458													5	111					0	0	0	0	G	24104219	A	G	24104219	3	3	502	1	0	0	0	0	1	0	0	0	12588	131	5	5	659	5	PRKCB	16	24104219	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	3776856	24104219	66250534	90	97227											
PRR14	78994	broad.mit.edu	37	chr16	30667506	30667506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccgggctgcagggggcagGactgttcctcccaatgtggc	5	8	16	12	1	0	0	0	0	0	0	3	1	3	1	3	5	1	4	3	5	1	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:30667506G>T	ENST00000542965.2	+	11	2088	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	PRR14_ENST00000300835.4_Missense_Mutation_p.R544S			Q9BWN1	PRR14_HUMAN	proline rich 14	544										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CAGGGGGCAGGACTGTTCCTC	0.642													5	102					0.014758	0.0152052	1	0	T	30667506	G	T	30667506	3	4	502	1	0	0	0	0	1	0	0	0	12666	1165	41	2	1674	2	PRR14	16	30667506	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	6563287	30667506	59687247	91	97228											
ZNF423	23090	broad.mit.edu	37	chr16	49671871	49671871	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccctgcccgtcatcccGcatcttcttctgcccccgca	4	9	6	22	3	4	0	1	0	3	0	5	0	5	0	6	0	3	2	6	0	0	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:49671871G>T	ENST00000561648.1	-	4	1245	c.1192C>A	c.(1192-1194)Cgg>Agg	p.R398R	ZNF423_ENST00000535559.1_Silent_p.R281R|ZNF423_ENST00000563137.2_Silent_p.R338R|ZNF423_ENST00000562871.1_Silent_p.R338R|ZNF423_ENST00000567169.1_Silent_p.R281R|ZNF423_ENST00000562520.1_Silent_p.R338R|ZNF423_ENST00000262383.2_Silent_p.R398R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	398					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R398W(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCGTCATCCCGCATCTTCTTC	0.637													8	68					0.000157383	0.000175444	1	0	T	49671871	G	T	49671871	2	4	502	1	0	0	0	0	0	0	0	1	17993	1086	38	3		3	ZNF423	16	49671871	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	19004365	49671871	40682882	92	97229											
CNTNAP4	85445	broad.mit.edu	37	chr16	76461448	76461448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatccctttggaatggaacCccaagggcagaattggaatg	12	9	11	9	0	1	1	1	0	0	1	2	4	2	4	3	4	1	1	3	4	5	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:76461448C>A	ENST00000307431.8	+	5	872	c.487C>A	c.(487-489)Ccc>Acc	p.P163T	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P167T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P139T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P163T|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	164	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAATGGAACCCCAAGGGCAG	0.413													12	91					6.40141e-05	7.3779e-05	1	0	A	76461448	C	A	76461448	3	1	502	1	0	0	0	0	1	0	0	0	3679	623	22	4	517	4	CNTNAP4	16	76461448	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	26789577	76461448	13893305	93	97230											
PITPNM3	83394	broad.mit.edu	37	chr17	6441364	6441364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agagtcactgaggacatttcGaaggtgccagggggcaccgc	10	6	15	10	2	1	2	1	1	0	1	2	4	1	3	2	4	1	1	2	4	1	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:6441364G>C	ENST00000262483.8	-	2	148	c.61C>G	c.(61-63)Cga>Gga	p.R21G	ACKR6_ENST00000421306.3_Missense_Mutation_p.R21G	NM_031220.3	NP_112497.2																					AGGACATTTCGAAGGTGCCAG	0.547													12	21					0	0	0	0	C	6441364	G	C	6441364	3	2	502	1	0	0	0	0	1	0	0	0	12024	1066	37	3	2939	3	PITPNM3	17	6441364	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08		6441364	74753846	94	97231											
DLG4	1742	broad.mit.edu	37	chr17	7099579	7099579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgctccgcagggacgCagtccctgagcccaggctgc	5	6	16	14	2	0	1	0	1	0	0	2	2	2	2	3	4	3	5	3	4	0	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:7099579C>A	ENST00000399510.2	-	13	2242	c.1390G>T	c.(1390-1392)Gcg>Tcg	p.A464S	DLG4_ENST00000302955.6_Missense_Mutation_p.A418S|DLG4_ENST00000399506.2_Missense_Mutation_p.A421S	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	421	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGCAGGGACGCAGTCCCTGAG	0.602													6	67					2.7689e-08	3.51934e-08	1	0	A	7099579	C	A	7099579	3	1	502	1	0	0	0	0	1	0	0	0	4594	710	25	4	953	4	DLG4	17	7099579	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	658215	7099579	74095631	95	97232											
EIF5A	1984	broad.mit.edu	37	chr17	7214723	7214723	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggacagcggggaggtaCgagaggaccttcgtctccct	8	7	14	12	3	1	1	0	0	1	1	4	5	2	4	3	5	2	1	3	5	1	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:7214723C>T	ENST00000336458.8	+	4	726	c.325C>T	c.(325-327)Cga>Tga	p.R109*	EIF5A_ENST00000572815.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.R109*|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.R109*|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.R139*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.R109*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	109				R -> P (in Ref. 3; AAD14095).	induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CGGGGAGGTACGAGAGGACCT	0.582													16	76					0	0	0	0	T	7214723	C	T	7214723	4	4	502	1	0	0	0	0	0	1	0	0	5079	528	19	1	429	1	EIF5A	17	7214723	Nonsense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	115144	7214723	73980487	96	97233											
TP53	7157	broad.mit.edu	37	chr17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G																															gctgctggtgcaggggccacINSggggggagcagcctctggca																								rs56275308		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:7579470_7579471insG	ENST00000420246.2	-	4	348_349	c.216_217insC	c.(214-219)cctggcfs	p.G73fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(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)		GCAGGGGCCACGGGGGGAGCAG	0.604		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)			42	180	---	---	---	---					G	7579471	-	G	7579470	7	5	502	1	0	1	1	0	0	0	0	0	16476	536	19	0	1085	0	TP53	17	7579470	Frame_Shift_Ins	INS	-	TCGA-UF-A7JJ-01A-11D-A34J-08	364747	7579470	73615740	97	97234											
HSF5	124535	broad.mit.edu	37	chr17	56540312	56540312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtatagatgtactcaGgtgactgtggtagagagcag	11	10	16	4	0	1	3	1	1	0	2	1	5	1	4	0	4	2	4	0	4	4	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:56540312G>C	ENST00000323777.3	-	4	1482	c.1373C>G	c.(1372-1374)cCt>cGt	p.P458R		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	458						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATGTACTCAGGTGACTGTGG	0.483													7	187					0	0	0	0	C	56540312	G	C	56540312	3	2	502	1	0	0	0	0	1	0	0	0	7449	1000	35	4	429	4	HSF5	17	56540312	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	48960842	56540312	24654898	98	97235											
ABCA6	23460	broad.mit.edu	37	chr17	67129853	67129853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctctcttttgttacattGagtgatataaaatatacaag	13	18	5	5	0	2	2	0	2	2	0	3	2	2	2	0	0	2	1	0	0	7	9			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:67129853G>A	ENST00000284425.2	-	6	894	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	240					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTGTTACATTGAGTGATATAA	0.308													9	107					0	0	0	0	A	67129853	G	A	67129853	2	1	502	1	0	0	0	0	0	0	0	1	36	1277	45	2		2	ABCA6	17	67129853	Silent	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	10589541	67129853	14065357	99	97236											
EPB41L3	23136	broad.mit.edu	37	chr18	5416179	5416179	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagctaaaagccacatcttGatcccctaggtaaggcctcc	11	9	8	13	0	1	1	0	1	1	0	3	1	3	1	5	2	2	3	5	2	5	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr18:5416179G>A	ENST00000341928.2	-	13	2045	c.1705C>T	c.(1705-1707)Caa>Taa	p.Q569*	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.Q569*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	569	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			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						GCCACATCTTGATCCCCTAGG	0.572													6	106					0	0	0	0	A	5416179	G	A	5416179	4	1	502	1	0	0	0	0	0	1	0	0	5192	1299	45	2	1598	2	EPB41L3	18	5416179	Nonsense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08		5416179	72661069	100	97237											
L3MBTL4	91133	broad.mit.edu	37	chr18	6215775	6215775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaactttggcaggaactgCattggtttgagtagcttcca	12	12	10	7	0	0	1	0	1	0	0	1	2	1	2	1	3	4	5	1	3	4	5			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr18:6215775C>T	ENST00000400104.3	-	11	1044	c.844G>A	c.(844-846)Gca>Aca	p.A282T	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A95T|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A282T|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.A282T|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A282T			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	282					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCAGGAACTGCATTGGTTTGA	0.343													8	86					0	0	0	0	T	6215775	C	T	6215775	3	4	502	1	0	0	0	0	1	0	0	0	8647	710	25	4	1067	4	L3MBTL4	18	6215775	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	799596	6215775	71861473	101	97238											
RAB12	201475	broad.mit.edu	37	chr18	8638229	8638229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagataccgccagaactgcCtccaccaagaccacatgtcc	12	6	7	16	1	0	3	0	1	0	3	2	4	2	3	7	0	3	0	7	0	3	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr18:8638229C>T	ENST00000329286.6	+	6	987	c.704C>T	c.(703-705)cCt>cTt	p.P235L		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	235					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						CCAGAACTGCCTCCACCAAGA	0.428													6	71					0	0	0	0	T	8638229	C	T	8638229	3	4	502	1	0	0	0	0	1	0	0	0	12980	681	24	4	726	4	RAB12	18	8638229	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	2422454	8638229	69439019	102	97239											
LTBP4	8425	broad.mit.edu	37	chr19	41133153	41133153	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctatggcgaatctgAggctcctgcgccacctggcc	5	8	12	16	2	1	1	0	1	1	0	2	2	2	1	6	4	1	1	6	4	2	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:41133153A>T	ENST00000308370.7	+	32	4457	c.4457A>T	c.(4456-4458)gAg>gTg	p.E1486V	LTBP4_ENST00000545697.1_Missense_Mutation_p.E854V|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.E1419V|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.E1449V	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1487	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCGAATCTGAGGCTCCTGCG	0.701													5	20					0	0	0	0	T	41133153	A	T	41133153	3	4	502	1	0	0	0	0	1	0	0	0	9140	304	11	5	4874	5	LTBP4	19	41133153	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08		41133153	17995830	103	97240											
ZNF611	81856	broad.mit.edu	37	chr19	53208929	53208929	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccacacaaaagccttgTcacaaaccttacatttgtaa	16	10	3	12	0	1	0	1	0	0	0	2	0	2	0	3	0	4	1	3	0	6	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:53208929T>A	ENST00000543227.1	-	6	1653	c.1379A>T	c.(1378-1380)gAc>gTc	p.D460V	ZNF611_ENST00000319783.1_Missense_Mutation_p.D460V|ZNF611_ENST00000453741.2_Missense_Mutation_p.D391V|ZNF611_ENST00000595798.1_Missense_Mutation_p.D391V|ZNF611_ENST00000602162.1_Missense_Mutation_p.D391V|ZNF611_ENST00000540744.1_Missense_Mutation_p.D460V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AAAAGCCTTGTCACAAACCTT	0.398													51	288					0	0	0	0	A	53208929	T	A	53208929	3	1	502	1	0	0	0	0	1	0	0	0	18132	1667	58	5	742	5	ZNF611	19	53208929	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	12075776	53208929	5920054	104	97241											
ZNF611	81856	broad.mit.edu	37	chr19	53210028	53210028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctccaatgtgatgactttCatgtctttgcaatgtccctg	8	16	7	10	0	3	2	1	2	2	0	5	2	4	2	2	0	1	1	2	0	2	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:53210028C>T	ENST00000543227.1	-	6	554	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ZNF611_ENST00000319783.1_Missense_Mutation_p.E94K|ZNF611_ENST00000453741.2_Missense_Mutation_p.E25K|ZNF611_ENST00000600943.1_Silent_p.*76*|ZNF611_ENST00000595798.1_Missense_Mutation_p.E25K|ZNF611_ENST00000602162.1_Missense_Mutation_p.E25K|ZNF611_ENST00000540744.1_Missense_Mutation_p.E94K	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	94	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGATGACTTTCATGTCTTTGC	0.388													10	428					0	0	0	0	T	53210028	C	T	53210028	3	4	502	1	0	0	0	0	1	0	0	0	18132	835	29	2	1841	2	ZNF611	19	53210028	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08	1099	53210028	5918955	105	97242											
ZNF761	388561	broad.mit.edu	37	chr19	53946133	53946133	+	RNA	DEL	A	A	-																															tctttaaaaatcatgttgtgAaaaaaaaaatacataatcac																								rs35108555		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													2	4	---	---	---	---					-	53946133	A	-	53946133	6	5	502	0	1	1	0	1	0	0	0	0	18230	261	9	0		0	ZNF761	19	53946133	RNA	DEL	A	TCGA-UF-A7JJ-01A-11D-A34J-08	736105	53946133	5182850	106	97243											
BAGE2	85319	broad.mit.edu	37	chr21	11097625	11097625	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggcttggagcagctGggcagacaatgccagaaaaa	13	5	13	10	0	0	2	0	0	0	2	0	3	0	3	2	3	4	4	2	3	3	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr21:11097625G>C	ENST00000470054.1	-	0	244									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)		tggagcagctgggcagacaat	0.557													5	83					0	0	0	0	C	11097625	G	C	11097625	1	2	502	0	1	0	0	0	0	0	0	0	1296	1357	47	4		4	BAGE2	21	11097625	RNA	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08		11097625	37032270	107	97244											
SON	6651	broad.mit.edu	37	chr21	34922188	34922188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcagaactgtcagttgtAtctacatcagtaatctcaga	13	12	7	9	0	4	2	3	0	2	2	5	2	4	2	0	0	3	4	0	0	4	4			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr21:34922188A>G	ENST00000356577.4	+	3	1126	c.651A>G	c.(649-651)gtA>gtG	p.V217V	SON_ENST00000300278.4_Silent_p.V217V|SON_ENST00000290239.6_Silent_p.V217V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.V217V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	217					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTCAGTTGTATCTACATCAG	0.458											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	135					0	0	0	0	G	34922188	A	G	34922188	2	3	502	1	0	0	0	0	0	0	0	1	15014	436	16	5		5	SON	21	34922188	Silent	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	23824563	34922188	13207707	108	97245											
LZTR1	8216	broad.mit.edu	37	chr22	21351028	21351028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacggcttctacaacaacCggctgcaggcgtactgcaag	11	7	10	13	3	1	0	0	0	1	0	1	0	1	0	1	3	7	5	1	3	6	4	rs141161152		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr22:21351028C>T	ENST00000215739.8	+	19	2622	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	LZTR1_ENST00000389355.3_Missense_Mutation_p.R736W|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	755					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTACAACAACCGGCTGCAGGC	0.617													10	50					0	0	0	0	T	21351028	C	T	21351028	3	4	502	1	0	0	0	0	1	0	0	0	9202	643	23	1	2337	1	LZTR1	22	21351028	Missense_Mutation	SNP	C	TCGA-UF-A7JJ-01A-11D-A34J-08		21351028	29953538	109	97246											
MYH9	4627	broad.mit.edu	37	chr22	36688050	36688050	+	Frame_Shift_Del	DEL	C	C	-																															acctggtcaaacttcttctgCttcttctccaggttgcacgc																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr22:36688050delC	ENST00000216181.5	-	31	4556	c.4326delG	c.(4324-4326)aafs	p.K1442fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1442					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTTCTTCTGCTTCTTCTCCA	0.582			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				14	66	---	---	---	---					-	36688050	C	-	36688050	7	5	502	1	0	1	0	1	0	0	0	0	10112	796	28	0	1600	0	MYH9	22	36688050	Frame_Shift_Del	DEL	C	TCGA-UF-A7JJ-01A-11D-A34J-08	15337022	36688050	14616516	110	97247											
ACRC	93953	broad.mit.edu	37	chrX	70824046	70824046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgattcggaagctcccgacGacaagagtgatgattcggat	12	9	12	8	4	0	4	0	3	0	1	3	8	1	6	1	2	1	1	1	2	2	2	rs142978522		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:70824046G>C	ENST00000373695.1	+	7	1456	c.919G>C	c.(919-921)Gac>Cac	p.D307H	ACRC_ENST00000373696.3_Missense_Mutation_p.D307H			Q96QF7	ACRC_HUMAN	acidic repeat containing	307	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAAGAGTGA	0.507													8	174					0	0	0	0	C	70824046	G	C	70824046	3	2	502	1	0	0	0	0	1	0	0	0	171	1058	37	3	945	3	ACRC	23	70824046	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08		70824046	84446514	111	97248											
SATL1	340562	broad.mit.edu	37	chrX	84363320	84363320	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggggacttgctggcTcatgcctggttgactcatgt	4	14	14	9	0	2	1	2	1	0	0	2	2	2	2	1	5	2	4	1	5	0	3			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:84363320T>A	ENST00000509231.1	-	1	734	c.655A>T	c.(655-657)Agc>Tgc	p.S219C	SATL1_ENST00000395409.3_Missense_Mutation_p.S32C|SATL1_ENST00000332921.5_Missense_Mutation_p.S32C			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	32	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACTTGCTGGCTCATGCCTGGT	0.537													10	82					0	0	0	0	A	84363320	T	A	84363320	3	1	502	1	0	0	0	0	1	0	0	0	13941	1551	54	5	1263	5	SATL1	23	84363320	Missense_Mutation	SNP	T	TCGA-UF-A7JJ-01A-11D-A34J-08	13539274	84363320	70907240	112	97249											
TCEAL2	140597	broad.mit.edu	37	chrX	101381930	101381930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagacaagaagttagaaaAcgagggaaacacagaaaaca	23	2	11	5	1	0	4	0	0	0	4	0	7	0	6	0	2	3	1	0	2	9	1			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:101381930A>G	ENST00000372780.1	+	3	347	c.128A>G	c.(127-129)aAc>aGc	p.N43S	TCEAL2_ENST00000329035.2_Missense_Mutation_p.N43S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAGTTAGAAAACGAGGGAAAC	0.453													6	34					0	0	0	0	G	101381930	A	G	101381930	3	3	502	1	0	0	0	0	1	0	0	0	15765	43	2	5	130	5	TCEAL2	23	101381930	Missense_Mutation	SNP	A	TCGA-UF-A7JJ-01A-11D-A34J-08	17018610	101381930	53888630	113	97250											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													7	221	---	---	---	---					C	107977803	-	C	107977802	7	5	502	1	0	1	1	0	0	0	0	0	7895	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-UF-A7JJ-01A-11D-A34J-08	6595872	107977802	47292758	114	97251											
SPANXN2	494119	broad.mit.edu	37	chrX	142795238	142795238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcttcgtcctcctgtgaaGatccttcagatgagtccagg	7	12	11	11	1	2	4	1	2	1	2	7	4	6	4	4	2	0	0	4	2	1	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:142795238G>A	ENST00000370498.1	-	2	1193	c.440C>T	c.(439-441)tCt>tTt	p.S147F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	147								p.S147F(1)|p.K23K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.532													40	281					0	0	0	0	A	142795238	G	A	142795238	3	1	502	1	0	0	0	0	1	0	0	0	15081	942	33	2	106	2	SPANXN2	23	142795238	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	34817436	142795238	12475322	115	97252											
ARHGAP4	393	broad.mit.edu	37	chrX	153184449	153184449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgggtgcggctctcaGcggccgtgtagctccggagc	4	8	17	12	4	1	0	1	0	1	0	3	1	2	1	2	5	4	4	2	5	1	2			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:153184449G>T	ENST00000370028.3	-	8	1046	c.989C>A	c.(988-990)gCt>gAt	p.A330D	ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A290D|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A269D|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A267D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	290					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					GCGGCTCTCAGCGGCCGTGTA	0.642													7	39					0.00198382	0.00214126	1	0	T	153184449	G	T	153184449	3	4	502	1	0	0	0	0	1	0	0	0	887	971	34	4	2035	4	ARHGAP4	23	153184449	Missense_Mutation	SNP	G	TCGA-UF-A7JJ-01A-11D-A34J-08	10389211	153184449	2086111	116	97253											
PLEKHN1	84069	broad.mit.edu	37	chr1	906558	906558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagtgctgtctgtgcctcGagggtcaagctgcagcacct	6	9	14	12	1	2	0	1	0	1	0	3	1	2	0	2	2	5	5	2	2	1	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:906558G>A	ENST00000379409.2	+	6	864	c.834G>A	c.(832-834)tcG>tcA	p.S278S	PLEKHN1_ENST00000379407.2_Silent_p.S238S|PLEKHN1_ENST00000379410.3_Silent_p.S226S			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	278	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCTGTGCCTCGAGGGTCAAGC	0.692													8	4					0	0	0	0	A	906558	G	A	906558	2	1	503	1	0	0	0	0	0	0	0	1	12155	1045	37	1		1	PLEKHN1	1	906558	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08		906558	248344063	1	97254											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919923	12919923	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgtgctggccacatctgatAagaaagctttattgttacct	11	13	8	9	1	1	2	0	1	1	1	1	2	1	2	2	1	3	3	2	1	4	5			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:12919923A>T	ENST00000240189.2	+	3	750	c.663A>T	c.(661-663)atA>atT	p.I221I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	221										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACATCTGATAAGAAAGCTTT	0.383													53	213					0	0	0	0	T	12919923	A	T	12919923	2	4	503	1	0	0	0	0	0	0	0	1	12512	352	13	5		5	PRAMEF2	1	12919923	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	12013365	12919923	236330698	2	97255											
CROCC	9696	broad.mit.edu	37	chr1	17272863	17272863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccctcaacgagagccttgCtcaggacaagttggatctga	10	8	11	12	2	3	2	2	1	1	1	3	5	3	4	2	2	3	2	2	2	2	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:17272863C>T	ENST00000375541.5	+	16	2315	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	749					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGAGCCTTGCTCAGGACAAG	0.652													16	51					0	0	0	0	T	17272863	C	T	17272863	3	4	503	1	0	0	0	0	1	0	0	0	3923	797	28	4	2308	4	CROCC	1	17272863	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	4352940	17272863	231977758	3	97256											
EPHA10	284656	broad.mit.edu	37	chr1	38185713	38185713	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgggagcggcccatagCgctgggctccggccactctg	4	7	15	15	4	2	0	0	0	2	0	4	1	3	1	3	4	2	2	3	4	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:38185713C>T	ENST00000373048.4	-	14	2429	c.2430G>A	c.(2428-2430)gcG>gcA	p.A810A	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Silent_p.A305A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.A810A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	810	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCCCATAGCGCTGGGCTCC	0.632													9	38					0	0	0	0	T	38185713	C	T	38185713	2	4	503	1	0	0	0	0	0	0	0	1	5204	755	27	1		1	EPHA10	1	38185713	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	20912850	38185713	211064908	4	97257											
SYT6	148281	broad.mit.edu	37	chr1	114680204	114680204	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccaggatgacctcgccAatcatgtcatggcgggagaa	10	9	12	10	2	2	2	2	1	0	1	4	4	3	3	3	3	0	0	3	3	2	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:114680204A>G	ENST00000393296.1	-	3	1061	c.984T>C	c.(982-984)atT>atC	p.I328I	SYT6_ENST00000369547.1_Silent_p.I243I			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	328	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGACCTCGCCAATCATGTCAT	0.532													20	32					0	0	0	0	G	114680204	A	G	114680204	2	3	503	1	0	0	0	0	0	0	0	1	15569	126	5	5		5	SYT6	1	114680204	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	76494491	114680204	134570417	5	97258											
CD2	914	broad.mit.edu	37	chr1	117297443	117297443	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaggaaaaagatacataTaagctatttaaaaatggaac	21	10	6	4	0	1	1	1	0	0	1	1	3	1	3	0	2	3	1	0	2	11	7			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:117297443T>A	ENST00000369478.3	+	2	360	c.252T>A	c.(250-252)taT>taA	p.Y84*	CD2_ENST00000369477.1_Nonsense_Mutation_p.Y84*	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	84	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGATACATATAAGCTATTTA	0.299													17	35					0	0	0	0	A	117297443	T	A	117297443	4	1	503	1	0	0	0	0	0	1	0	0	3008	1413	49	5	258	5	CD2	1	117297443	Nonsense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	2617239	117297443	131953178	6	97259											
SELENBP1	8991	broad.mit.edu	37	chr1	151337669	151337669	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagaggctcttaccttgAccactaggggctctggctgg	6	9	16	10	0	2	2	0	1	2	1	2	3	2	2	2	7	1	3	2	7	2	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:151337669A>G	ENST00000426705.2	-	10	1403	c.1259T>C	c.(1258-1260)gTc>gCc	p.V420A	SELENBP1_ENST00000447402.3_Missense_Mutation_p.V316A|SELENBP1_ENST00000368868.5_Missense_Mutation_p.V378A|SELENBP1_ENST00000435071.1_Missense_Mutation_p.V314A	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	378					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			TCTTACCTTGACCACTAGGGG	0.582													4	22					0	0	0	0	G	151337669	A	G	151337669	3	3	503	1	0	0	0	0	1	0	0	0	14101	275	10	5	297	5	SELENBP1	1	151337669	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	34040226	151337669	97912952	7	97260											
DCST1	149095	broad.mit.edu	37	chr1	155020374	155020374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttggctaccgactccGgagggtcatcgcagccttct	5	11	12	13	3	2	0	1	0	1	0	4	2	3	1	3	4	2	3	3	4	1	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:155020374G>A	ENST00000295542.1	+	15	1820	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	DCST1_ENST00000368419.2_Missense_Mutation_p.R575Q|DCST1_ENST00000423025.2_Missense_Mutation_p.R550Q|DCST1_ENST00000392480.1_Missense_Mutation_p.R575Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	575						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TACCGACTCCGGAGGGTCATC	0.602													12	51					0	0	0	0	A	155020374	G	A	155020374	3	1	503	1	0	0	0	0	1	0	0	0	4334	1116	39	1	1778	1	DCST1	1	155020374	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	3682705	155020374	94230247	8	97261											
CLK2	1196	broad.mit.edu	37	chr1	155234038	155234038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcggatcatccgggaaggGataggacccaagatcctttc	10	10	11	10	2	1	1	1	0	0	1	5	5	3	5	3	4	0	0	3	4	3	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:155234038G>A	ENST00000368361.4	-	11	1515	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	CLK2_ENST00000536801.1_Silent_p.I400I|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.I398I|CLK2_ENST00000361168.5_Silent_p.I399I			P49760	CLK2_HUMAN	CDC-like kinase 2	400	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCGGGAAGGGATAGGACCCA	0.458								Other conserved DNA damage response genes					14	63					0	0	0	0	A	155234038	G	A	155234038	2	1	503	1	0	0	0	0	0	0	0	1	3567	1164	41	2		2	CLK2	1	155234038	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	213664	155234038	94016583	9	97262											
DUSP27	92235	broad.mit.edu	37	chr1	167097175	167097175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagatggatagcagtattaAtaagtggctcagtggcctca	13	10	12	6	0	2	1	2	0	0	1	2	3	2	2	1	3	1	3	1	3	4	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:167097175A>T	ENST00000361200.2	+	6	2973	c.2807A>T	c.(2806-2808)aAt>aTt	p.N936I	DUSP27_ENST00000443333.1_Missense_Mutation_p.N936I|DUSP27_ENST00000271385.5_Missense_Mutation_p.N936I|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	936	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCAGTATTAATAAGTGGCTC	0.502													12	20					0	0	0	0	T	167097175	A	T	167097175	3	4	503	1	0	0	0	0	1	0	0	0	4860	101	4	5	2825	5	DUSP27	1	167097175	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	11863137	167097175	82153446	10	97263											
ASTN1	460	broad.mit.edu	37	chr1	176934360	176934360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctcgctgaaatattgTgtaaggccatggcctaaaag	14	9	10	8	1	0	1	0	1	0	0	1	1	0	1	3	2	1	2	3	2	6	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:176934360T>C	ENST00000367654.2	-	9	1574	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	ASTN1_ENST00000424564.2_Missense_Mutation_p.T513A|ASTN1_ENST00000361833.2_Missense_Mutation_p.T513A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.T513A			O14525	ASTN1_HUMAN	astrotactin 1	521					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGAAATATTGTGTAAGGCCAT	0.418													21	73					0	0	0	0	C	176934360	T	C	176934360	3	2	503	1	0	0	0	0	1	0	0	0	1068	1696	59	5	2411	5	ASTN1	1	176934360	Missense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	9837185	176934360	72316261	11	97264											
ADIPOR1	51094	broad.mit.edu	37	chr1	202913030	202913030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaataatagagccaggggaCaaagctccccataattagaa	17	6	10	8	0	0	2	0	0	0	2	1	4	1	4	3	3	2	1	3	3	7	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:202913030C>A	ENST00000340990.5	-	6	959	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V221F	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	221					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCAGGGGACAAAGCTCCCC	0.468													6	27					0.0293803	0.029564	1	0	A	202913030	C	A	202913030	3	1	503	1	0	0	0	0	1	0	0	0	318	478	17	4	478	4	ADIPOR1	1	202913030	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	25978670	202913030	46337591	12	97265											
MFSD4	148808	broad.mit.edu	37	chr1	205548961	205548961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccccttctgccgcgacGtgaaggtgctggcctcagtc	5	10	11	15	3	3	1	2	1	1	0	5	2	4	1	4	2	2	1	4	2	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:205548961G>A	ENST00000367147.4	+	2	406	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	MFSD4_ENST00000539267.1_Missense_Mutation_p.V105M|MFSD4_ENST00000536357.1_Missense_Mutation_p.V105M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	105					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGCCGCGACGTGAAGGTGCT	0.627													23	78					0	0	0	0	A	205548961	G	A	205548961	3	1	503	1	0	0	0	0	1	0	0	0	9602	1145	40	1	319	1	MFSD4	1	205548961	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	2635931	205548961	43701660	13	97266											
KCNH1	3756	broad.mit.edu	37	chr1	211093339	211093339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccatattcaatgtagtggtCcagcttacgggccactcgcc	8	11	9	13	2	1	0	1	0	0	0	4	0	3	0	4	2	2	2	4	2	4	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:211093339C>T	ENST00000367007.4	-	7	1193	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	KCNH1_ENST00000271751.4_Missense_Mutation_p.D369N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	369					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATGTAGTGGTCCAGCTTACGG	0.577													19	75					0	0	0	0	T	211093339	C	T	211093339	3	4	503	1	0	0	0	0	1	0	0	0	8084	855	30	2	1884	2	KCNH1	1	211093339	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	5544378	211093339	38157282	14	97267											
KIF26B	55083	broad.mit.edu	37	chr1	245530315	245530315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcagtgagcactacgaCgcctcgccctgctccccgcc	5	5	11	20	5	0	1	0	1	0	0	2	2	1	1	6	1	3	3	6	1	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:245530315C>G	ENST00000407071.2	+	3	1085	c.645C>G	c.(643-645)gaC>gaG	p.D215E	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	215					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCACTACGACGCCTCGCCCT	0.657													8	17					0	0	0	0	G	245530315	C	G	245530315	3	3	503	1	0	0	0	0	1	0	0	0	8346	535	19	3	655	3	KIF26B	1	245530315	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	34436976	245530315	3720306	15	97268											
COLEC11	78989	broad.mit.edu	37	chr2	3660936	3660936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagacaaaggcgcccccGgacggcctggaagagtcggc	10	2	17	12	4	0	2	0	0	0	2	1	5	0	4	3	6	0	0	3	6	2	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:3660936G>A	ENST00000403096.3	+	2	579	c.88G>A	c.(88-90)Gga>Aga	p.G30R	COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000236693.7_Silent_p.P26P|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000382062.2_Missense_Mutation_p.G56R|COLEC11_ENST00000349077.4_Missense_Mutation_p.G56R|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000402922.1_Missense_Mutation_p.G30R|COLEC11_ENST00000418971.2_Missense_Mutation_p.G70R	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	56						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AGGCGCCCCCGGACGGCCTGG	0.622													3	18					0	0	0	0	A	3660936	G	A	3660936	3	1	503	1	0	0	0	0	1	0	0	0	3741	1117	39	1	172	1	COLEC11	2	3660936	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08		3660936	239538437	16	97269											
GREB1	9687	broad.mit.edu	37	chr2	11725952	11725952	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcagtcacctttccAgtggtggcctctggagaacc	7	10	10	14	0	3	1	2	0	1	1	4	2	4	1	5	3	2	1	5	3	1	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:11725952A>T	ENST00000381486.2	+	9	1380	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	GREB1_ENST00000263834.5_Silent_p.P360P|GREB1_ENST00000234142.5_Silent_p.P360P|GREB1_ENST00000381483.2_Silent_p.P360P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	360						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCACCTTTCCAGTGGTGGCCT	0.507													32	65					0	0	0	0	T	11725952	A	T	11725952	2	4	503	1	0	0	0	0	0	0	0	1	6810	175	7	5		5	GREB1	2	11725952	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	8065016	11725952	231473421	17	97270											
APOB	338	broad.mit.edu	37	chr2	21252782	21252782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagattacccgcagaatcaaAtaggtgtaatcttcatcccc	13	10	7	11	1	3	2	2	0	1	2	4	3	4	2	3	1	1	2	3	1	5	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:21252782A>G	ENST00000233242.1	-	11	1585	c.1458T>C	c.(1456-1458)taT>taC	p.Y486Y	APOB_ENST00000399256.4_Silent_p.Y486Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	486	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCAGAATCAAATAGGTGTAAT	0.443													60	116					0	0	0	0	G	21252782	A	G	21252782	2	3	503	1	0	0	0	0	0	0	0	1	787	108	4	5		5	APOB	2	21252782	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	9526830	21252782	221946591	18	97271											
TSGA10	80705	broad.mit.edu	37	chr2	99681511	99681511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatctgcctctgattgaCgggctttattttcccagttt	5	19	8	9	1	2	2	0	2	2	0	3	2	3	2	2	1	1	3	2	1	2	7			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:99681511C>T	ENST00000393483.3	-	16	2139	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	TSGA10_ENST00000410001.1_Missense_Mutation_p.R432H|TSGA10_ENST00000539964.1_Missense_Mutation_p.R432H|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.R432H	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	432					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCTGATTGACGGGCTTTATT	0.403													39	124					0	0	0	0	T	99681511	C	T	99681511	3	4	503	1	0	0	0	0	1	0	0	0	16712	536	19	1	825	1	TSGA10	2	99681511	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	78428729	99681511	143517862	19	97272											
TBC1D8	11138	broad.mit.edu	37	chr2	101627475	101627475	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttcagctgtttctgataAtcaactgcatcaccttgaaa	11	14	6	10	0	4	2	3	2	1	0	4	2	4	2	1	0	4	4	1	0	3	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:101627475A>T	ENST00000409318.1	-	19	3061	c.2931T>A	c.(2929-2931)gaT>gaA	p.D977E	RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.D962E	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	962				EKD -> KKK (in Ref. 1; BAA76517).	blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTTTCTGATAATCAACTGCAT	0.353													21	72					0	0	0	0	T	101627475	A	T	101627475	3	4	503	1	0	0	0	0	1	0	0	0	15719	98	4	5	544	5	TBC1D8	2	101627475	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	1945964	101627475	141571898	20	97273											
SLC9A4	389015	broad.mit.edu	37	chr2	103142788	103142788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaggaagagacacaaGggctgctgggttctcaggta	10	8	15	8	0	2	1	1	0	2	1	3	3	2	2	0	4	2	5	0	4	3	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:103142788G>T	ENST00000295269.4	+	11	2478	c.2021G>T	c.(2020-2022)aGg>aTg	p.R674M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	674					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGAGACACAAGGGCTGCTGGG	0.537													18	65					2.35188e-11	2.6114e-11	1	0	T	103142788	G	T	103142788	3	4	503	1	0	0	0	0	1	0	0	0	14804	1000	35	4	2063	4	SLC9A4	2	103142788	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	1515313	103142788	140056585	21	97274											
ST6GAL2	84620	broad.mit.edu	37	chr2	107446571	107446571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatcttctctttagtgttCtcctggataatatcccagag	9	16	7	9	0	3	2	0	1	3	1	6	3	4	3	2	1	0	1	2	1	4	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:107446571C>T	ENST00000409382.3	-	5	1879	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	ST6GAL2_ENST00000361686.4_Silent_p.E423E|ST6GAL2_ENST00000409087.3_Silent_p.E423E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	423					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.E423D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTTAGTGTTCTCCTGGATAA	0.388													30	89					0	0	0	0	T	107446571	C	T	107446571	2	4	503	1	0	0	0	0	0	0	0	1	15312	912	32	2		2	ST6GAL2	2	107446571	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	4303783	107446571	135752802	22	97275											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460189	107460189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccggctgggtgggcgCggggcagcgcctggcgtgcg	4	4	22	11	6	0	0	0	0	0	0	0	1	0	1	2	7	3	2	2	7	1	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:107460189C>T	ENST00000409382.3	-	2	855	c.245G>A	c.(244-246)cGc>cAc	p.R82H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R82H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R82H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	82					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGGTGGGCGCGGGGCAGCGC	0.657													19	57					0	0	0	0	T	107460189	C	T	107460189	3	4	503	1	0	0	0	0	1	0	0	0	15312	768	27	1	1451	1	ST6GAL2	2	107460189	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	13618	107460189	135739184	23	97276											
PROC	5624	broad.mit.edu	37	chr2	128186041	128186041	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgacaatgacatcgcacTgctgcacctggcccagcccg	9	5	9	18	3	0	1	0	1	0	0	1	2	0	1	4	1	3	3	4	1	1	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:128186041T>G	ENST00000453608.2	+	8	1078	c.1070T>G	c.(1069-1071)cTg>cGg	p.L357R	PROC_ENST00000422777.3_Missense_Mutation_p.L302R|PROC_ENST00000409048.1_Missense_Mutation_p.L336R|PROC_ENST00000234071.3_Missense_Mutation_p.L302R			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	302	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GACATCGCACTGCTGCACCTG	0.647													14	54					0	0	0	0	G	128186041	T	G	128186041	3	3	503	1	0	0	0	0	1	0	0	0	12625	1580	55	5	935	5	PROC	2	128186041	Missense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	20725852	128186041	115013332	24	97277											
GPR148	344561	broad.mit.edu	37	chr2	131487215	131487215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcatgtcccatggggCtgcctggaaggcagtggccc	5	9	13	14	0	1	0	1	0	0	0	3	1	3	1	4	5	1	2	4	5	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:131487215C>A	ENST00000309926.4	+	1	573	c.491C>A	c.(490-492)gCt>gAt	p.A164D		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	164						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TCCCATGGGGCTGCCTGGAAG	0.602													6	23					8.12818e-05	8.44282e-05	1	0	A	131487215	C	A	131487215	3	1	503	1	0	0	0	0	1	0	0	0	6702	797	28	4	493	4	GPR148	2	131487215	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	3301174	131487215	111712158	25	97278											
PSMD14	10213	broad.mit.edu	37	chr2	162242001	162242001	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatgccttcagattgatCaatgctaatatgatggtctt	11	16	8	6	0	3	4	2	3	1	1	3	4	3	4	1	1	2	1	1	1	3	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:162242001C>A	ENST00000409682.3	+	8	1193	c.489C>A	c.(487-489)atC>atA	p.I163I		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	163					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						TCAGATTGATCAATGCTAATA	0.363													15	23					4.7546e-09	5.13753e-09	1	0	A	162242001	C	A	162242001	2	1	503	1	0	0	0	0	0	0	0	1	12776	816	29	2		2	PSMD14	2	162242001	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	30754786	162242001	80957372	26	97279											
LRP2	4036	broad.mit.edu	37	chr2	170066058	170066058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccatctggtttaattctaCggatcgcattatcagatgcc	10	14	7	10	2	3	1	1	0	2	1	5	2	4	2	2	2	2	2	2	2	3	5			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:170066058C>T	ENST00000263816.3	-	38	6659	c.6374G>A	c.(6373-6375)cGt>cAt	p.R2125H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2125					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTAATTCTACGGATCGCATT	0.453													18	84					0	0	0	0	T	170066058	C	T	170066058	3	4	503	1	0	0	0	0	1	0	0	0	9020	536	19	1	7761	1	LRP2	2	170066058	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	7824057	170066058	73133315	27	97280											
TTN	7273	broad.mit.edu	37	chr2	179456494	179456494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtcctgggtgccttcttCttgatattctaccaaatatc	8	15	6	12	0	3	1	0	1	3	0	5	1	4	1	4	1	2	0	4	1	4	7			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:179456494C>T	ENST00000589042.1	-	303	60276	c.60052G>A	c.(60052-60054)Gaa>Aaa	p.E20018K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11078K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11145K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18377K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10953K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17450K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18377							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCCTTCTTCTTGATATTCT	0.423													52	51					0	0	0	0	T	179456494	C	T	179456494	3	4	503	1	0	0	0	0	1	0	0	0	16831	922	32	2	48167	2	TTN	2	179456494	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	9390436	179456494	63742879	28	97281											
CASP10	843	broad.mit.edu	37	chr2	202082352	202082352	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactgctgtcaacgatgAtgtgagtcgaagagtggaca	11	9	12	9	2	2	3	2	2	0	1	3	6	2	4	1	1	2	1	1	1	2	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:202082352A>T	ENST00000286186.6	+	10	1892	c.1457A>T	c.(1456-1458)gAt>gTt	p.D486V	CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.D419V|CASP10_ENST00000346817.5_Missense_Mutation_p.D443V|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Intron	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTCAACGATGATGTGAGTCGA	0.448													20	90					0	0	0	0	T	202082352	A	T	202082352	3	4	503	1	0	0	0	0	1	0	0	0	2694	333	12	5	1491	5	CASP10	2	202082352	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	22625858	202082352	41117021	29	97282											
BMPR2	659	broad.mit.edu	37	chr2	203329550	203329550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttcgcagaatcaagaacGgctatgtgcgtttaaagatc	13	10	10	8	3	1	3	1	0	0	3	3	3	1	3	0	1	3	4	0	1	6	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:203329550G>A	ENST00000374580.4	+	2	634	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Missense_Mutation_p.R32Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	32					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATCAAGAACGGCTATGTGCG	0.343													36	36					0	0	0	0	A	203329550	G	A	203329550	3	1	503	1	0	0	0	0	1	0	0	0	1476	1116	39	1	101	1	BMPR2	2	203329550	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	1247198	203329550	39869823	30	97283											
GRM7	2917	broad.mit.edu	37	chr3	7620568	7620568	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtgtgttctttccggCgagttttcttgggcttgggt	2	17	15	7	2	2	0	0	0	2	0	3	1	3	0	1	4	0	4	1	4	0	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:7620568C>T	ENST00000486284.1	+	8	2249	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	GRM7_ENST00000357716.4_Nonsense_Mutation_p.R659*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.R659*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.R659*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.R659*|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	659					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCTTTCCGGCGAGTTTTCTT	0.453													27	92					0	0	0	0	T	7620568	C	T	7620568	4	4	503	1	0	0	0	0	0	1	0	0	6852	760	27	1	2005	1	GRM7	3	7620568	Nonsense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		7620568	190401862	31	97284											
CPNE9	151835	broad.mit.edu	37	chr3	9754511	9754511	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggagcaatgaggatggcAcgtgagtcactgccatcagg	12	6	14	9	1	2	2	2	2	0	0	2	4	2	4	1	4	2	2	1	4	1	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:9754511A>G	ENST00000383832.3	+	9	734	c.545_splice	c.e9+1	p.T182_splice	CPNE9_ENST00000383831.3_Splice_Site_p.T182_splice	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	182	C2 2.									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)					TGAGGATGGCACGTGAGTCAC	0.517													19	37					0	0	0	0	G	9754511	A	G	9754511	5	3	503	1	0	0	0	0	0	0	1	0	3849	173	6	5	574	5	CPNE9	3	9754511	Splice_Site	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	2133943	9754511	188267919	32	97285											
KIF9	64147	broad.mit.edu	37	chr3	47287699	47287699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcacctcagaaccaccCggaactggttgaacacctcc	10	8	6	17	1	3	2	2	1	1	1	5	3	4	3	5	2	3	1	5	2	3	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:47287699C>A	ENST00000335044.2	-	13	1634	c.1277G>T	c.(1276-1278)cGg>cTg	p.R426L	KIF9_ENST00000265529.3_Missense_Mutation_p.R426L|KIF9_ENST00000444589.2_Missense_Mutation_p.R426L|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Missense_Mutation_p.R426L|KIF9_ENST00000352910.4_Missense_Mutation_p.R333L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	426					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGAACCACCCGGAACTGGTT	0.562													5	22					0.0215528	0.0218239	1	0	A	47287699	C	A	47287699	3	1	503	1	0	0	0	0	1	0	0	0	8361	652	23	3	1131	3	KIF9	3	47287699	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	37533188	47287699	150734731	33	97286											
MYLK	4638	broad.mit.edu	37	chr3	123383038	123383038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcagtgctcctggcgcGcggccaggatggtgagcttg	5	7	17	12	4	0	1	0	1	0	0	1	2	1	2	3	4	3	3	3	4	0	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:123383038G>A	ENST00000360772.3	-	24	4277	c.3899C>T	c.(3898-3900)gCg>gTg	p.A1300V	MYLK_ENST00000475616.1_Missense_Mutation_p.A1300V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1300V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1300V|MYLK_ENST00000354792.5_Missense_Mutation_p.A100V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1231V			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCTGGCGCGCGGCCAGGAT	0.632													81	112					0	0	0	0	A	123383038	G	A	123383038	3	1	503	1	0	0	0	0	1	0	0	0	10126	1087	38	1	1893	1	MYLK	3	123383038	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	76095339	123383038	74639392	34	97287											
DNAJC13	23317	broad.mit.edu	37	chr3	132180004	132180004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtttgatatgctcttGgagatggtagcatccaatgg	10	12	12	7	0	1	2	0	1	1	1	2	3	2	2	1	3	3	5	1	3	3	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:132180004G>A	ENST00000260818.6	+	15	1916	c.1668G>A	c.(1666-1668)ttG>ttA	p.L556L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	556							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATATGCTCTTGGAGATGGTAG	0.423													63	136					0	0	0	0	A	132180004	G	A	132180004	2	1	503	1	0	0	0	0	0	0	0	1	4668	1339	47	4		4	DNAJC13	3	132180004	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	8796966	132180004	65842426	35	97288											
NLGN1	22871	broad.mit.edu	37	chr3	173998438	173998438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaataaggtgaacctctGgttggagttggtacctcatc	10	11	11	9	0	2	1	1	1	1	0	3	2	2	2	3	4	3	3	3	4	4	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:173998438G>T	ENST00000457714.1	+	7	2246	c.1817G>T	c.(1816-1818)tGg>tTg	p.W606L	NLGN1_ENST00000361589.4_Missense_Mutation_p.W606L|NLGN1_ENST00000401917.3_Missense_Mutation_p.W646L|NLGN1_ENST00000545397.1_Missense_Mutation_p.W606L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	623					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTGAACCTCTGGTTGGAGTTG	0.398													42	128					1.22674e-20	1.4209e-20	1	0	T	173998438	G	T	173998438	3	4	503	1	0	0	0	0	1	0	0	0	10531	1357	47	4	1835	4	NLGN1	3	173998438	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	41818434	173998438	24023992	36	97289											
ZNF595	152687	broad.mit.edu	37	chr4	59431	59431	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgatgttggagaactacAggaacctggtctccctgggt	9	11	13	8	0	1	2	0	1	1	1	2	4	1	3	2	4	3	1	2	4	3	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:59431A>T	ENST00000509152.2	+	2	297	c.112A>T	c.(112-114)Agg>Tgg	p.R38W	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.R38W					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GGAGAACTACAGGAACCTGGT	0.433													40	808					0	0	0	0	T	59431	A	T	59431	3	4	503	1	0	0	0	0	1	0	0	0	18120	179	7	5	118	5	ZNF595	4	59431	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08		59431	191094845	37	97290											
ACOX3	8310	broad.mit.edu	37	chr4	8407729	8407729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcctatgtcgccaacCatcactccaggcatgggaag	9	12	8	12	1	1	0	1	0	0	0	4	1	3	1	4	2	1	1	4	2	3	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:8407729C>T	ENST00000356406.5	-	7	806	c.729G>A	c.(727-729)atG>atA	p.M243I	ACOX3_ENST00000503233.1_Missense_Mutation_p.M243I|ACOX3_ENST00000413009.2_Missense_Mutation_p.M243I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	243					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGTCGCCAACCATCACTCCAG	0.517													56	272					0	0	0	0	T	8407729	C	T	8407729	3	4	503	1	0	0	0	0	1	0	0	0	160	594	21	4	1421	4	ACOX3	4	8407729	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	8348298	8407729	182746547	38	97291											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815564	23815564	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttatcactttcatcttcGctgtcatcaaacaggccatc	10	14	5	12	1	5	0	4	0	1	0	7	0	5	0	1	1	1	2	1	1	2	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:23815564G>A	ENST00000264867.2	-	8	1661	c.1542C>T	c.(1540-1542)agC>agT	p.S514S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	514					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTTCATCTTCGCTGTCATCAA	0.413													28	112					0	0	0	0	A	23815564	G	A	23815564	2	1	503	1	0	0	0	0	0	0	0	1	12371	1078	38	1		1	PPARGC1A	4	23815564	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	15407835	23815564	167338712	39	97292											
SH3D19	152503	broad.mit.edu	37	chr4	152065407	152065407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccggggttttgagagacaaTatcttcattggcaattccat	10	14	9	8	1	2	2	1	1	1	1	4	3	4	2	2	3	0	2	2	3	3	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:152065407T>C	ENST00000304527.4	-	12	2365	c.1276A>G	c.(1276-1278)Att>Gtt	p.I426V	SH3D19_ENST00000455740.1_Intron|SH3D19_ENST00000409252.2_Missense_Mutation_p.I426V|SH3D19_ENST00000409598.4_Intron|SH3D19_ENST00000514152.1_Intron|SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000427414.2_Intron	NM_001009555.3	NP_001009555.3	Q5HYK7	SH319_HUMAN	SH3 domain containing 19	426	SH3 1.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGAGAGACAATATCTTCATTG	0.368													30	106					0	0	0	0	C	152065407	T	C	152065407	3	2	503	1	0	0	0	0	1	0	0	0	14336	1406	49	5	1136	5	SH3D19	4	152065407	Missense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	128249843	152065407	39088869	40	97293											
FGB	2244	broad.mit.edu	37	chr4	155487770	155487770	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacctcctcttcttcctttCagtacatgtatttgctgaaa	9	16	5	11	0	3	2	1	1	2	1	5	2	5	2	3	0	2	3	3	0	3	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:155487770C>T	ENST00000302068.4	+	3	499	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	146				FQ -> QF (in Ref. 10; AA sequence, 11; AA sequence and 12; AA sequence).	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCCTTTCAGTACATGTA	0.403													25	53					0	0	0	0	T	155487770	C	T	155487770	4	4	503	1	0	0	0	0	0	1	0	0	5876	827	29	2	446	2	FGB	4	155487770	Nonsense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	3422363	155487770	35666506	41	97294											
SLC6A3	6531	broad.mit.edu	37	chr5	1416304	1416304	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacacctgggtggccgCgtcaatccaaacctgcagag	11	5	12	13	2	1	1	1	0	0	1	2	2	2	1	4	2	3	2	4	2	3	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:1416304C>G	ENST00000270349.9	-	7	1067	c.940G>C	c.(940-942)Gcg>Ccg	p.A314P	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	314					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGGTGGCCGCGTCAATCCAA	0.627													4	50					0	0	0	0	G	1416304	C	G	1416304	3	3	503	1	0	0	0	0	1	0	0	0	14773	768	27	3	958	3	SLC6A3	5	1416304	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		1416304	179498956	42	97295											
PDZD2	23037	broad.mit.edu	37	chr5	32098724	32098724	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtccagaaagaccatcccCctggagcctggcattggtaa	10	8	10	13	0	0	2	0	0	0	2	2	3	2	3	5	3	1	2	5	3	2	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:32098724C>T	ENST00000438447.1	+	23	8590	c.8202C>T	c.(8200-8202)ccC>ccT	p.P2734P	PDZD2_ENST00000282493.3_Silent_p.P2734P			O15018	PDZD2_HUMAN	PDZ domain containing 2	2734					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGACCATCCCCCTGGAGCCTG	0.527													4	35					0	0	0	0	T	32098724	C	T	32098724	2	4	503	1	0	0	0	0	0	0	0	1	11772	610	22	4		4	PDZD2	5	32098724	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	30682420	32098724	148816536	43	97296											
C7	730	broad.mit.edu	37	chr5	40959707	40959707	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaatgcgaagatgaggAgctggagcacttgaggtaat	14	7	13	7	1	0	3	0	2	0	1	0	6	0	5	0	3	3	3	0	3	3	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:40959707A>T	ENST00000313164.9	+	12	2005	c.1646A>T	c.(1645-1647)gAg>gTg	p.E549V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	549	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAAGATGAGGAGCTGGAGCAC	0.522													15	19					0	0	0	0	T	40959707	A	T	40959707	3	4	503	1	0	0	0	0	1	0	0	0	2398	304	11	5	1692	5	C7	5	40959707	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	8860983	40959707	139955553	44	97297											
GPR98	84059	broad.mit.edu	37	chr5	90106618	90106618	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtggttgccattgttactGaggcaactggtgtatctgcc	7	13	12	9	1	1	1	0	1	1	0	1	1	1	1	2	3	4	4	2	3	3	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:90106618G>C	ENST00000405460.2	+	74	15637	c.15541G>C	c.(15541-15543)Gag>Cag	p.E5181Q	GPR98_ENST00000425867.2_Missense_Mutation_p.E842Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5181					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTGTTACTGAGGCAACTGG	0.493													36	30					0	0	0	0	C	90106618	G	C	90106618	3	2	503	1	0	0	0	0	1	0	0	0	6771	1291	45	2	15835	2	GPR98	5	90106618	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	49146911	90106618	90808642	45	97298											
PCDHA10	56139	broad.mit.edu	37	chr5	140236826	140236826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttccgttcaagctggtgtCcacctacaagaattactact	10	12	7	12	2	1	1	1	0	0	1	3	1	3	1	3	1	4	3	3	1	6	5			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:140236826C>A	ENST00000307360.5	+	1	1193	c.1193C>A	c.(1192-1194)tCc>tAc	p.S398Y	PCDHA10_ENST00000506939.2_Missense_Mutation_p.S398Y|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.S398F(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGGTGTCCACCTACAAG	0.597													36	129					2.42023e-17	2.76353e-17	1	0	A	140236826	C	A	140236826	3	1	503	1	0	0	0	0	1	0	0	0	11591	855	30	2	1195	2	PCDHA10	5	140236826	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	50130208	140236826	40678434	46	97299											
LCP2	3937	broad.mit.edu	37	chr5	169689739	169689739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttgggtaaatgctcccCgagtgacctgtggagttcag	9	11	12	9	1	2	1	1	1	1	0	3	3	3	2	3	2	1	3	3	2	3	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:169689739C>A	ENST00000046794.5	-	13	1441	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	LCP2_ENST00000521416.1_Missense_Mutation_p.G71W	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	276					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AAATGCTCCCCGAGTGACCTG	0.507													22	27					7.45023e-12	8.32977e-12	1	0	A	169689739	C	A	169689739	3	1	503	1	0	0	0	0	1	0	0	0	8745	652	23	3	811	3	LCP2	5	169689739	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	29452913	169689739	11225521	47	97300											
EDN1	1906	broad.mit.edu	37	chr6	12296207	12296207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattaggtcggagaccatGagaaacagcgtcaaatcatc	14	10	9	8	2	2	2	2	1	0	2	4	4	2	2	1	2	2	0	1	2	4	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:12296207G>A	ENST00000379375.5	+	5	813	c.546G>A	c.(544-546)atG>atA	p.M182I		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	182					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				CGGAGACCATGAGAAACAGCG	0.403													125	112					0	0	0	0	A	12296207	G	A	12296207	3	1	503	1	0	0	0	0	1	0	0	0	4952	1290	45	2	564	2	EDN1	6	12296207	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08		12296207	158818860	48	97301											
TRIM27	5987	broad.mit.edu	37	chr6	28872268	28872268	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatctcccacctctaccTcccaataatgtctcccggcg	7	12	4	18	2	3	0	0	0	3	0	6	0	4	0	5	1	1	0	5	1	4	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:28872268T>A	ENST00000377199.3	-	8	1477	c.1121A>T	c.(1120-1122)gAg>gTg	p.E374V	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	374	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CACCTCTACCTCCCAATAATG	0.527			T	RET	papillary thyroid								4	72					0	0	0	0	A	28872268	T	A	28872268	3	1	503	1	0	0	0	0	1	0	0	0	16596	1551	54	5	424	5	TRIM27	6	28872268	Missense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	16576061	28872268	142242799	49	97302											
CCHCR1	54535	broad.mit.edu	37	chr6	31118256	31118256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcagctcctcctcctgCagggcgaggatgtgtgtgag	5	10	15	11	1	1	1	1	1	0	0	4	3	4	2	3	3	2	2	3	3	0	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:31118256C>T	ENST00000396268.3	-	7	1376	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Silent_p.L307L|CCHCR1_ENST00000451521.2_Silent_p.L360L|CCHCR1_ENST00000396263.2_Silent_p.L307L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	307					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCTCCTCCTGCAGGGCGAGGA	0.672													7	38					0	0	0	0	T	31118256	C	T	31118256	2	4	503	1	0	0	0	0	0	0	0	1	2904	697	25	4		4	CCHCR1	6	31118256	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	2245988	31118256	139996811	50	97303											
C6orf25	80739	broad.mit.edu	37	chr6	31691724	31691724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtacagtgcttcacgtgctgGgggacaggacctattgcaag	9	9	14	9	1	1	0	1	0	0	0	1	2	1	2	1	3	4	4	1	3	3	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:31691724G>C	ENST00000375809.3	+	2	381	c.370G>C	c.(370-372)Ggg>Cgg	p.G124R	C6orf25_ENST00000375805.2_Missense_Mutation_p.G124R|C6orf25_ENST00000480039.1_Missense_Mutation_p.G124R|C6orf25_ENST00000375810.4_Missense_Mutation_p.G124R	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	124						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCACGTGCTGGGGGACAGGAC	0.632													21	141					0	0	0	0	C	31691724	G	C	31691724	3	2	503	1	0	0	0	0	1	0	0	0	2381	1232	43	4	376	4	C6orf25	6	31691724	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	573468	31691724	139423343	51	97304											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34804007	34804007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagggcaacagcaacagCagcagcagccgcctcagcca	13	1	11	16	1	1	0	1	0	0	0	1	0	1	0	4	1	9	5	4	1	2	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:34804007C>A	ENST00000192788.5	+	8	1086	c.915C>A	c.(913-915)agC>agA	p.S305R	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S305R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	305										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ACAGCAACAGCAGCAGCAGCC	0.552													84	150					6.44082e-31	7.56914e-31	1	0	A	34804007	C	A	34804007	3	1	503	1	0	0	0	0	1	0	0	0	17064	709	25	4	945	4	UHRF1BP1	6	34804007	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	3112283	34804007	136311060	52	97305											
PKHD1	5314	broad.mit.edu	37	chr6	51897826	51897826	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgcagtatcacatattttAcctgctatattgcttatgtt	9	19	5	8	0	1	0	1	0	0	0	1	0	1	0	1	0	4	5	1	0	6	10			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:51897826A>C	ENST00000371117.3	-	29	3640		c.e29+1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACATATTTTACCTGCTATAT	0.353													40	137					0	0	0	0	C	51897826	A	C	51897826	5	2	503	1	0	0	0	0	0	0	1	0	12043	405	14	5	9053	5	PKHD1	6	51897826	Splice_Site	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	17093819	51897826	119217241	53	97306											
REV3L	5980	broad.mit.edu	37	chr6	111697739	111697739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagttatctagacctttttCtgtatttttgtttgtctgtg	5	23	8	5	0	3	2	0	1	3	1	3	2	3	2	1	0	0	3	1	0	3	8			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:111697739C>T	ENST00000435970.1	-	15	2401	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	REV3L_ENST00000368802.3_Missense_Mutation_p.E607K|REV3L_ENST00000358835.3_Missense_Mutation_p.E607K|REV3L_ENST00000368805.1_Missense_Mutation_p.E607K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	607					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGACCTTTTTCTGTATTTTTG	0.338								DNA polymerases (catalytic subunits)					17	39					0	0	0	0	T	111697739	C	T	111697739	3	4	503	1	0	0	0	0	1	0	0	0	13322	922	32	2	7653	2	REV3L	6	111697739	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	59799913	111697739	59417328	54	97307											
ENPP3	5169	broad.mit.edu	37	chr6	132006597	132006597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacgaagggcctgccccccGcatccgagctcataatatac	10	7	9	15	3	1	0	1	0	0	0	2	2	2	0	5	1	4	3	5	1	5	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:132006597G>A	ENST00000414305.1	+	14	1542	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	ENPP3_ENST00000358229.5_Missense_Mutation_p.R405H|ENPP3_ENST00000357639.3_Missense_Mutation_p.R405H			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	405	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R405L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTGCCCCCCGCATCCGAGCT	0.378													4	125					0	0	0	0	A	132006597	G	A	132006597	3	1	503	1	0	0	0	0	1	0	0	0	5169	1087	38	1	1264	1	ENPP3	6	132006597	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	20308858	132006597	39108470	55	97308											
SLC35D3	340146	broad.mit.edu	37	chr6	137243766	137243766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcgggctcatcgccgTgccccccttcggtctgagcc	2	8	12	19	5	2	1	1	1	1	0	5	1	2	1	6	2	2	1	6	2	0	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:137243766T>C	ENST00000331858.4	+	1	365	c.200T>C	c.(199-201)gTg>gCg	p.V67A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	67					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CTCATCGCCGTGCCCCCCTTC	0.716													4	14					0	0	0	0	C	137243766	T	C	137243766	3	2	503	1	0	0	0	0	1	0	0	0	14671	1696	59	5	202	5	SLC35D3	6	137243766	Missense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	5237169	137243766	33871301	56	97309											
HOXA13	3209	broad.mit.edu	37	chr7	27237893	27237893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccagattgtgacctgcCgctcagagagattcgtcgtg	9	9	13	10	3	1	4	1	1	0	3	3	6	1	5	3	1	2	1	3	1	1	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:27237893C>A	ENST00000222753.4	-	2	1119	c.1091G>T	c.(1090-1092)cGg>cTg	p.R364L		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	364					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGTGACCTGCCGCTCAGAGAG	0.413			T	NUP98	AML								76	291					1.1397e-45	1.36934e-45	1	0	A	27237893	C	A	27237893	3	1	503	1	0	0	0	0	1	0	0	0	7341	652	23	3	79	3	HOXA13	7	27237893	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		27237893	131900770	57	97310											
POM121L12	285877	broad.mit.edu	37	chr7	53103955	53103955	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggttcgacgggccgttgtgGttcgaggtctcagacagcaa	8	9	15	9	4	1	1	1	0	1	1	4	3	1	1	1	4	1	4	1	4	1	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:53103955G>A	ENST00000408890.4	+	1	607	c.591G>A	c.(589-591)tgG>tgA	p.W197*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	197										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCCGTTGTGGTTCGAGGTCT	0.672													379	51					0	0	0	0	A	53103955	G	A	53103955	4	1	503	1	0	0	0	0	0	1	0	0	12313	1270	44	4	593	4	POM121L12	7	53103955	Nonsense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	25866062	53103955	106034708	58	97311											
MAGI2	9863	broad.mit.edu	37	chr7	77973178	77973178	+	Missense_Mutation	SNP	C	C	A																															actcatcaggctcgtctccaCcaatgatggtaaatccaaag																										TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:77973178C>A	ENST00000354212.4	-	9	1578	c.1325G>T	c.(1324-1326)gGt>gTt	p.G442V	MAGI2_ENST00000535697.1_Missense_Mutation_p.G279V|MAGI2_ENST00000419488.1_Missense_Mutation_p.G442V|MAGI2_ENST00000522391.1_Missense_Mutation_p.G442V|MAGI2_ENST00000536571.1_Missense_Mutation_p.G274V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	442	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCGTCTCCACCAATGATGGT	0.488													11	35					9.70103e-10	1.05531e-09	1	0	A	77973178	C	A	77973178	3	1	503	1	0	0	0	0	1	0	0	0	9260	507	18	4	3098	4	MAGI2	7	77973178	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	24869223	77973178	81165485	59	97312	1162	2									
MAGI2	9863	broad.mit.edu	37	chr7	77973179	77973179	+	Missense_Mutation	SNP	C	C	A																															ctcatcaggctcgtctccacCaatgatggtaaatccaaagc																										TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:77973179C>A	ENST00000354212.4	-	9	1577	c.1324G>T	c.(1324-1326)Ggt>Tgt	p.G442C	MAGI2_ENST00000535697.1_Missense_Mutation_p.G279C|MAGI2_ENST00000419488.1_Missense_Mutation_p.G442C|MAGI2_ENST00000522391.1_Missense_Mutation_p.G442C|MAGI2_ENST00000536571.1_Missense_Mutation_p.G274C	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	442	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCGTCTCCACCAATGATGGTA	0.488													11	35					9.70103e-10	1.05531e-09	1	0	A	77973179	C	A	77973179	3	1	503	1	0	0	0	0	1	0	0	0	9260	594	21	4	3099	4	MAGI2	7	77973179	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	1	77973179	81165484	60	97313	1162	2									
GRM3	2913	broad.mit.edu	37	chr7	86493656	86493656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagtcctcgactccacCacctcatctctgtgattgtg	7	11	9	14	2	2	1	1	1	1	0	6	3	4	2	4	1	0	0	4	1	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:86493656C>G	ENST00000439827.1	+	5	1729	c.1558C>G	c.(1558-1560)Cac>Gac	p.H520D	GRM3_ENST00000546348.1_Silent_p.T467T|GRM3_ENST00000394720.2_Missense_Mutation_p.H518D|GRM3_ENST00000361669.2_Silent_p.T875T|GRM3_ENST00000536043.1_Silent_p.T747T			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCGACTCCACCACCTCATCTC	0.463													35	83					0	0	0	0	G	86493656	C	G	86493656	3	3	503	1	0	0	0	0	1	0	0	0	6848	581	21	4	2643	4	GRM3	7	86493656	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	8520477	86493656	72645007	61	97314											
CYP3A43	64816	broad.mit.edu	37	chr7	99461158	99461158	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatgtactactgtgaaagtAggttcagtaagaagaacaag	16	11	10	4	0	1	3	1	1	0	2	1	3	1	3	0	1	3	4	0	1	9	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:99461158A>G	ENST00000354829.2	+	12	1356		c.e12-1		CYP3A43_ENST00000222382.5_Splice_Site_p.R419_splice|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Splice_Site|CYP3A43_ENST00000417625.1_Splice_Site|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Intron|CYP3A43_ENST00000477658.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CTGTGAAAGTAGGTTCAGTAA	0.413													23	47					0	0	0	0	G	99461158	A	G	99461158	5	3	503	1	0	0	0	0	0	0	1	0	4211	434	15	5	1301	5	CYP3A43	7	99461158	Splice_Site	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	12967502	99461158	59677505	62	97315											
PLXNA4	91584	broad.mit.edu	37	chr7	131848963	131848963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcaaggagtagcgggcctCgcccgtgatggcgtcaatgg	7	7	16	11	4	2	1	2	1	0	0	3	2	2	2	2	4	1	2	2	4	3	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:131848963C>T	ENST00000359827.3	-	24	5400	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1480K			Q9HCM2	PLXA4_HUMAN	plexin A4	1480						integral to membrane|intracellular|plasma membrane		p.E1480K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGCGGGCCTCGCCCGTGATG	0.592													4	28					0	0	0	0	T	131848963	C	T	131848963	3	4	503	1	0	0	0	0	1	0	0	0	12194	893	31	1	1282	1	PLXNA4	7	131848963	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	32387805	131848963	27289700	63	97316											
FAM84B	157638	broad.mit.edu	37	chr8	127568878	127568878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtcgttgcgtcgcttctCcatgatcaggtcctctagac	5	13	10	13	3	3	2	1	1	2	1	7	2	4	2	2	2	1	2	2	2	1	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr8:127568878C>T	ENST00000304916.3	-	2	1212	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	253						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CGTCGCTTCTCCATGATCAGG	0.682													9	10					0	0	0	0	T	127568878	C	T	127568878	3	4	503	1	0	0	0	0	1	0	0	0	5688	864	30	2	179	2	FAM84B	8	127568878	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		127568878	18795144	64	97317											
FNBP1	23048	broad.mit.edu	37	chr9	132658259	132658259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccttcaactacggaaatCgttccttcattctgacctga	9	14	5	13	2	4	2	2	2	2	0	7	3	5	3	3	1	2	1	3	1	3	5			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr9:132658259C>T	ENST00000420781.1	-	16	1895	c.1677G>A	c.(1675-1677)acG>acA	p.T559T	FNBP1_ENST00000446176.2_Silent_p.T568T|FNBP1_ENST00000443566.2_Silent_p.T196T|FNBP1_ENST00000355681.3_Silent_p.T539T			Q96RU3	FNBP1_HUMAN	formin binding protein 1	568	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	p.T568T(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTACGGAAATCGTTCCTTCAT	0.443			T	MLL	AML								15	43					0	0	0	0	T	132658259	C	T	132658259	2	4	503	1	0	0	0	0	0	0	0	1	6010	871	31	1		1	FNBP1	9	132658259	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		132658259	8555172	65	97318											
BEND7	222389	broad.mit.edu	37	chr10	13522936	13522936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atattttggtctagtcctttCcggttgtcattgagtcctct	5	19	8	9	1	3	1	1	1	2	0	6	1	6	1	3	2	0	1	3	2	2	7			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:13522936C>T	ENST00000341083.3	-	6	1166	c.870G>A	c.(868-870)cgG>cgA	p.R290R	BEND7_ENST00000378605.3_Silent_p.R303R|BEND7_ENST00000396900.2_Silent_p.R342R|BEND7_ENST00000396898.2_Silent_p.R355R	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	342	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTAGTCCTTTCCGGTTGTCAT	0.423													25	109					0	0	0	0	T	13522936	C	T	13522936	2	4	503	1	0	0	0	0	0	0	0	1	1407	842	30	2		2	BEND7	10	13522936	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		13522936	122011811	66	97319											
FAM107B	83641	broad.mit.edu	37	chr10	14563887	14563887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccaacttctgctgcCgttttaatagctctatttcc	6	16	5	14	1	2	0	0	0	2	0	4	0	4	0	4	0	5	4	4	0	4	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:14563887C>T	ENST00000181796.2	-	4	1018	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	FAM107B_ENST00000479731.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000496330.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378467.4_Missense_Mutation_p.R87Q|FAM107B_ENST00000378470.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378458.2_Missense_Mutation_p.R87Q|FAM107B_ENST00000468747.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378462.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000478076.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378465.3_Missense_Mutation_p.R87Q	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	87										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTCTGCTGCCGTTTTAATAG	0.423													20	98					0	0	0	0	T	14563887	C	T	14563887	3	4	503	1	0	0	0	0	1	0	0	0	5431	652	23	1	143	1	FAM107B	10	14563887	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	1040951	14563887	120970860	67	97320											
C10orf68	79741	broad.mit.edu	37	chr10	33015677	33015677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtaccagataaaaattCtatgtttgttcatcaagatt	14	16	6	5	0	3	2	2	0	1	2	3	2	3	2	1	0	1	4	1	0	7	8			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:33015677C>A	ENST00000375030.2	+	11	1148	c.530C>A	c.(529-531)tCt>tAt	p.S177Y	C10orf68_ENST00000375028.3_Missense_Mutation_p.S145Y|C10orf68_ENST00000375025.4_Missense_Mutation_p.S169Y			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	169										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GATAAAAATTCTATGTTTGTT	0.294													8	30					5.68852e-11	6.27296e-11	1	0	A	33015677	C	A	33015677	3	1	503	1	0	0	0	0	1	0	0	0	1623	913	32	2	528	2	C10orf68	10	33015677	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	18451790	33015677	102519070	68	97321											
BTAF1	9044	broad.mit.edu	37	chr10	93744029	93744029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacatttatattatgaCgaaattgccgttccattcac	13	14	5	9	2	2	2	2	1	0	1	3	3	3	2	2	0	2	1	2	0	5	7			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:93744029C>T	ENST00000265990.6	+	19	2603	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	765					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			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)				TATATTATGACGAAATTGCCG	0.348													18	45					0	0	0	0	T	93744029	C	T	93744029	2	4	503	1	0	0	0	0	0	0	0	1	1544	535	19	1		1	BTAF1	10	93744029	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	60728352	93744029	41790718	69	97322											
SEMA4G	57715	broad.mit.edu	37	chr10	102732925	102732925	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaagggccaagcccagaActactcaacactgctgctgg	11	7	9	14	0	2	1	2	0	0	1	2	1	2	1	2	2	6	2	2	2	5	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:102732925A>T	ENST00000210633.3	+	2	242	c.164A>T	c.(163-165)aAc>aTc	p.N55I	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.N55I|SEMA4G_ENST00000370250.4_Missense_Mutation_p.N55I			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	55	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CAAGCCCAGAACTACTCAACA	0.637													11	33					0	0	0	0	T	102732925	A	T	102732925	3	4	503	1	0	0	0	0	1	0	0	0	14123	43	2	5	170	5	SEMA4G	10	102732925	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	8988896	102732925	32801822	70	97323											
GBF1	8729	broad.mit.edu	37	chr10	104119951	104119951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccccaggcacagctttGgtcccctatggtcttccctg	4	12	8	17	0	1	0	0	0	1	0	4	0	4	0	6	3	1	2	6	3	1	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:104119951G>T	ENST00000369983.3	+	12	1448	c.1188G>T	c.(1186-1188)ttG>ttT	p.L396F	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	396					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCACAGCTTTGGTCCCCTATG	0.527													106	339					7.35891e-43	8.77618e-43	1	0	T	104119951	G	T	104119951	3	4	503	1	0	0	0	0	1	0	0	0	6320	1339	47	4	1230	4	GBF1	10	104119951	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	1387026	104119951	31414796	71	97324											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362799	105362799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagtgccgcggatgcctgCgtccgaagcagagcggggct	6	5	19	11	5	0	1	0	0	0	1	1	4	1	3	3	4	5	2	3	4	1	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:105362799C>T	ENST00000369774.4	-	15	2452	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A561T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A698T|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A593T|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	726					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGATGCCTGCGTCCGAAGCA	0.617													21	92					0	0	0	0	T	105362799	C	T	105362799	3	4	503	1	0	0	0	0	1	0	0	0	14344	768	27	1	1229	1	SH3PXD2A	10	105362799	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	1242848	105362799	30171948	72	97325											
MUC5B	727897	broad.mit.edu	37	chr11	1264578	1264578	+	Silent	SNP	T	T	A																															tcctcaactcctgggacaacTcccatccccccagtgctgac																										TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:1264578T>A	ENST00000447027.1	+	31	6535	c.6477T>A	c.(6475-6477)acT>acA	p.T2159T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2156T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2156	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctgggacaactcccatccccc	0.647													3	12					0	0	0	0	A	1264578	T	A	1264578	2	1	503	1	0	0	0	0	0	0	0	1	10049	1538	54	5		5	MUC5B	11	1264578	Silent	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08		1264578	133741938	73	97326	1163	2									
MUC5B	727897	broad.mit.edu	37	chr11	1264581	1264581	+	Silent	SNP	C	C	T																															tcaactcctgggacaactccCatccccccagtgctgaccac																										TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:1264581C>T	ENST00000447027.1	+	31	6538	c.6480C>T	c.(6478-6480)ccC>ccT	p.P2160P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P2157P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2157	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ggacaactcccatccccccag	0.647													3	11					0	0	0	0	T	1264581	C	T	1264581	2	4	503	1	0	0	0	0	0	0	0	1	10049	581	21	4		4	MUC5B	11	1264581	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	3	1264581	133741935	74	97327	1163	2									
OR10A4	283297	broad.mit.edu	37	chr11	6898608	6898608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattctccacctgttccGcccacctcttggttgtctct	4	14	7	16	1	3	0	0	0	3	0	6	0	4	0	5	2	0	3	5	2	0	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:6898608G>A	ENST00000379829.2	+	1	753	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A244T(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTTCCGCCCACCTCTT	0.527													32	76					0	0	0	0	A	6898608	G	A	6898608	3	1	503	1	0	0	0	0	1	0	0	0	10963	1087	38	1	732	1	OR10A4	11	6898608	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	5634027	6898608	128107908	75	97328											
TUB	7275	broad.mit.edu	37	chr11	8122379	8122379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgccctcccaggagcatGagacactgctagcacgctgg	8	6	13	14	1	0	1	0	1	0	1	1	3	1	2	2	3	4	5	2	3	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:8122379G>A	ENST00000305253.4	+	12	1628	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	TUB_ENST00000299506.2_Missense_Mutation_p.E408K|TUB_ENST00000534099.1_Missense_Mutation_p.E414K	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	408					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCAGGAGCATGAGACACTGCT	0.547													15	44					0	0	0	0	A	8122379	G	A	8122379	3	1	503	1	0	0	0	0	1	0	0	0	16838	1291	45	2	1475	2	TUB	11	8122379	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	1223771	8122379	126884137	76	97329											
PYGM	5837	broad.mit.edu	37	chr11	64521044	64521044	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgccgttgacggcgtgCgaccccgcgatgcacaggtg	6	5	15	15	7	0	1	0	1	0	0	0	3	0	1	4	2	2	2	4	2	0	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:64521044C>T	ENST00000164139.3	-	11	1748	c.1350G>A	c.(1348-1350)tcG>tcA	p.S450S	PYGM_ENST00000377432.3_Silent_p.S362S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	450					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGACGGCGTGCGACCCCGCGA	0.662													3	11					0	0	0	0	T	64521044	C	T	64521044	2	4	503	1	0	0	0	0	0	0	0	1	12944	755	27	1		1	PYGM	11	64521044	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	56398665	64521044	70485472	77	97330											
CCDC82	79780	broad.mit.edu	37	chr11	96117453	96117453	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatcattatcctcttgactTaaatgtttttcctgatcatc	10	18	4	9	0	3	3	2	2	1	1	6	3	5	3	2	0	0	1	2	0	3	5			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:96117453T>C	ENST00000278520.5	-	3	887	c.459A>G	c.(457-459)ttA>ttG	p.L153L	CCDC82_ENST00000423339.2_Silent_p.L153L|CCDC82_ENST00000542662.1_Silent_p.L153L			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	153							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CCTCTTGACTTAAATGTTTTT	0.323													36	161					0	0	0	0	C	96117453	T	C	96117453	2	2	503	1	0	0	0	0	0	0	0	1	2883	1751	61	5		5	CCDC82	11	96117453	Silent	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	31596409	96117453	38889063	78	97331											
MMP12	4321	broad.mit.edu	37	chr11	102736639	102736639	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataatttggctctggtcttAaattgctaattaaccagtat	12	16	7	6	0	2	0	0	0	2	0	2	1	2	0	1	2	2	3	1	2	6	7			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:102736639A>C	ENST00000532855.1	-	0	1168							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CTCTGGTCTTAAATTGCTAAT	0.299													9	31					0	0	0	0	C	102736639	A	C	102736639	1	2	503	0	1	0	0	0	0	0	0	0	9720	372	13	5		5	MMP12	11	102736639	RNA	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	6619186	102736639	32269877	79	97332											
CACNA1C	775	broad.mit.edu	37	chr12	2783763	2783763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaagaagatctggaagCggaccagcatgaagctgctg	13	7	12	9	1	3	3	2	1	1	2	3	5	3	5	1	2	4	3	1	2	4	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:2783763C>T	ENST00000399655.1	+	39	5048	c.4783C>T	c.(4783-4785)Cgg>Tgg	p.R1595W	CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1620W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1614W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1643W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1603W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1601W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1615W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1636W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1623W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1603W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1612W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1643					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATCTGGAAGCGGACCAGCAT	0.632													4	21					0	0	0	0	T	2783763	C	T	2783763	3	4	503	1	0	0	0	0	1	0	0	0	2565	759	27	1	5320	1	CACNA1C	12	2783763	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		2783763	131068132	80	97333											
CAPZA3	93661	broad.mit.edu	37	chr12	18891831	18891831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaatatccaaggacctgaAagaaagcttggaaatagtta	18	9	9	5	0	0	3	0	2	0	1	1	5	1	5	2	2	1	2	2	2	8	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:18891831A>G	ENST00000317658.3	+	1	787	c.629A>G	c.(628-630)aAa>aGa	p.K210R		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	210					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAGGACCTGAAAGAAAGCTTG	0.403													17	80					0	0	0	0	G	18891831	A	G	18891831	3	3	503	1	0	0	0	0	1	0	0	0	2667	14	1	5	631	5	CAPZA3	12	18891831	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	16108068	18891831	114960064	81	97334											
PKP2	5318	broad.mit.edu	37	chr12	32996151	32996151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgaactcctgacctcGtgatccgcccgccttggcct	4	10	10	17	4	1	2	0	2	1	0	5	3	3	2	6	2	1	0	6	2	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:32996151G>C	ENST00000070846.6	-	6	1499	c.1475C>G	c.(1474-1476)aCg>aGg	p.T492R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	492					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					tcctgacctcgtgatccgccc	0.547													13	11					0	0	0	0	C	32996151	G	C	32996151	3	2	503	1	0	0	0	0	1	0	0	0	12057	1145	40	3	1206	3	PKP2	12	32996151	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	14104320	32996151	100855744	82	97335											
PLXNC1	10154	broad.mit.edu	37	chr12	94654553	94654553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactcatgctgagacgcacGgagtccgtcgtcgaaaaact	13	7	10	11	5	1	1	1	1	0	1	4	4	2	2	1	1	3	2	1	1	3	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:94654553G>A	ENST00000258526.4	+	20	3636	c.3387G>A	c.(3385-3387)acG>acA	p.T1129T	PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Silent_p.T176T	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1129					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGAGACGCACGGAGTCCGTCG	0.512													15	42					0	0	0	0	A	94654553	G	A	94654553	2	1	503	1	0	0	0	0	0	0	0	1	12198	1103	39	1		1	PLXNC1	12	94654553	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	61658402	94654553	39197342	83	97336											
MLEC	9761	broad.mit.edu	37	chr12	121125273	121125273	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaacgcgggtggagaggcGcatgtggacgtgcacgggat	8	6	19	8	5	1	1	1	0	0	1	1	4	1	3	0	5	2	2	0	5	1	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:121125273G>T	ENST00000228506.3	+	1	602	c.174G>T	c.(172-174)gcG>gcT	p.A58A	MLEC_ENST00000412616.2_Silent_p.A58A	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	58					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GTGGAGAGGCGCATGTGGACG	0.746													19	16					3.51602e-12	3.98647e-12	1	0	T	121125273	G	T	121125273	2	4	503	1	0	0	0	0	0	0	0	1	9682	1074	38	3		3	MLEC	12	121125273	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	26470720	121125273	12726622	84	97337											
HSPH1	10808	broad.mit.edu	37	chr13	31713028	31713028	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgaactttaactggagTgccaattttctaaaataaaa	18	11	5	7	1	1	0	0	0	1	0	1	2	1	1	2	1	4	0	2	1	8	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:31713028T>A	ENST00000320027.5	-	16	2442	c.2098A>T	c.(2098-2100)Act>Tct	p.T700S	HSPH1_ENST00000429785.2_Missense_Mutation_p.T519S|HSPH1_ENST00000380405.4_Missense_Mutation_p.T656S|HSPH1_ENST00000445273.2_Missense_Mutation_p.T702S|HSPH1_ENST00000380406.5_Missense_Mutation_p.T659S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	700					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTAACTGGAGTGCCAATTTTC	0.338													54	43					0	0	0	0	A	31713028	T	A	31713028	3	1	503	1	0	0	0	0	1	0	0	0	7484	1696	59	5	490	5	HSPH1	13	31713028	Missense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08		31713028	83456850	85	97338											
BRCA2	675	broad.mit.edu	37	chr13	32912648	32912648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattaaagaagatttgtcaGatttaacttttttggaagtt	14	17	8	2	0	1	4	1	0	0	4	1	5	1	5	0	1	1	1	0	1	5	8			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:32912648G>A	ENST00000544455.1	+	11	4383	c.4156G>A	c.(4156-4158)Gat>Aat	p.D1386N	BRCA2_ENST00000380152.3_Missense_Mutation_p.D1386N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1386					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATTTGTCAGATTTAACTTT	0.338			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	37					0	0	0	0	A	32912648	G	A	32912648	3	1	503	1	0	0	0	0	1	0	0	0	1507	942	33	2	4194	2	BRCA2	13	32912648	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	1199620	32912648	82257230	86	97339											
PCDH20	64881	broad.mit.edu	37	chr13	61986505	61986505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatatgatggagcatcaGgtcccagaaaatatgaaact	19	8	8	6	0	1	3	1	2	0	1	2	4	2	4	1	2	2	1	1	2	7	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:61986505G>T	ENST00000409186.1	-	5	3832	c.1727C>A	c.(1726-1728)cCt>cAt	p.P576H	PCDH20_ENST00000409204.4_Missense_Mutation_p.P576H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	549	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGAGCATCAGGTCCCAGAAA	0.443													18	102					1.99824e-07	2.11655e-07	1	0	T	61986505	G	T	61986505	3	4	503	1	0	0	0	0	1	0	0	0	11586	1000	35	4	1132	4	PCDH20	13	61986505	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	29073857	61986505	53183373	87	97340											
SLITRK6	84189	broad.mit.edu	37	chr13	86368994	86368994	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattcctttttgtcgagatgCccgggggaagtgcagaggat	9	11	14	7	2	0	2	0	0	0	2	2	5	1	4	2	3	2	1	2	3	2	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:86368994C>T	ENST00000400286.2	-	2	2248	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	550	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTCGAGATGCCCGGGGGAAG	0.463													4	74					0	0	0	0	T	86368994	C	T	86368994	2	4	503	1	0	0	0	0	0	0	0	1	14835	726	26	4		4	SLITRK6	13	86368994	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	24382489	86368994	28800884	88	97341											
ZIC2	7546	broad.mit.edu	37	chr13	100637229	100637229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgttccagtgtgagtttgagGgctgcgaccggcgcttcgcc	4	10	15	12	5	0	2	0	2	0	0	2	3	1	2	3	2	1	4	3	2	0	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:100637229G>A	ENST00000376335.3	+	2	1398	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	369					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAGTTTGAGGGCTGCGACCG	0.612													16	33					0	0	0	0	A	100637229	G	A	100637229	3	1	503	1	0	0	0	0	1	0	0	0	17774	1232	43	4	1111	4	ZIC2	13	100637229	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	14268235	100637229	14532649	89	97342											
TPP2	7174	broad.mit.edu	37	chr13	103249403	103249403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtccatggccaccgctgcGactgaggagcccttcccttt	5	9	11	16	3	0	1	0	1	0	0	2	3	2	2	5	2	2	1	5	2	0	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:103249403G>A	ENST00000376052.3	+	1	31	c.15G>A	c.(13-15)gcG>gcA	p.A5A	TPP2_ENST00000376065.4_Silent_p.A5A			P29144	TPP2_HUMAN	tripeptidyl peptidase II	5					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACCGCTGCGACTGAGGAGC	0.687													6	13					0	0	0	0	A	103249403	G	A	103249403	2	1	503	1	0	0	0	0	0	0	0	1	16507	1045	37	1		1	TPP2	13	103249403	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	2612174	103249403	11920475	90	97343											
DCAF11	80344	broad.mit.edu	37	chr14	24592244	24592244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggcctgtgtgcgtgaCgtcagttggcacccctttga	7	10	12	12	2	1	2	1	2	0	0	1	2	1	2	3	2	1	2	3	2	1	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr14:24592244C>T	ENST00000558325.1	+	2	232	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	DCAF11_ENST00000396936.1_Silent_p.D388D|DCAF11_ENST00000559115.1_Silent_p.D488D|DCAF11_ENST00000446197.3_Silent_p.D488D|DCAF11_ENST00000396941.4_Silent_p.D462D																							GTGTGCGTGACGTCAGTTGGC	0.562													16	82					0	0	0	0	T	24592244	C	T	24592244	3	4	503	1	0	0	0	0	1	0	0	0	4295	535	19	1	1514	1	DCAF11	14	24592244	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		24592244	82757296	91	97344											
SLC8A3	6547	broad.mit.edu	37	chr14	70634203	70634203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccggatcatctctctgcGggactcatccacttccttcc	7	12	6	16	2	4	0	2	0	2	0	9	2	8	2	4	2	1	0	4	2	1	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr14:70634203G>A	ENST00000381269.2	-	2	1690	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	SLC8A3_ENST00000356921.2_Missense_Mutation_p.R313C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R313C|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R313C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R313C	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	313					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCTCTCTGCGGGACTCATCC	0.488													37	79					0	0	0	0	A	70634203	G	A	70634203	3	1	503	1	0	0	0	0	1	0	0	0	14796	1116	39	1	1985	1	SLC8A3	14	70634203	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	46041959	70634203	36715337	92	97345											
SLC24A4	123041	broad.mit.edu	37	chr14	92908448	92908448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagagactccatctgagcGaagatgtggctggagccacc	10	8	12	11	1	2	3	1	1	1	2	3	6	3	4	3	2	2	1	3	2	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr14:92908448G>A	ENST00000532405.1	+	5	635	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K|SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	137						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCATCTGAGCGAAGATGTGGC	0.557													12	61					0	0	0	0	A	92908448	G	A	92908448	3	1	503	1	0	0	0	0	1	0	0	0	14556	1059	37	1	376	1	SLC24A4	14	92908448	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	22274245	92908448	14441092	93	97346											
JAG2	3714	broad.mit.edu	37	chr14	105615349	105615349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctggctgacgcagcGtccatgggggccacacacgc	6	5	14	16	3	0	1	0	1	0	0	1	1	1	1	3	4	1	3	3	4	0	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr14:105615349G>A	ENST00000331782.3	-	14	2234	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	JAG2_ENST00000347004.2_Missense_Mutation_p.R573C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	611	EGF-like 10; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTGACGCAGCGTCCATGGGGG	0.642													6	14					0	0	0	0	A	105615349	G	A	105615349	3	1	503	1	0	0	0	0	1	0	0	0	7988	1145	40	1	1937	1	JAG2	14	105615349	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	12706901	105615349	1734191	94	97347											
GABRB3	2562	broad.mit.edu	37	chr15	26812851	26812851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaatgttcctcttcaaccGaaagctcagtgacagtcgag	11	10	8	12	2	3	1	2	1	1	0	6	3	5	1	3	0	2	2	3	0	3	2	rs144496462		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:26812851G>A	ENST00000541819.2	-	8	982	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	GABRB3_ENST00000400188.3_Missense_Mutation_p.R167W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R238W|GABRB3_ENST00000311550.5_Missense_Mutation_p.R238W|GABRB3_ENST00000545868.1_Missense_Mutation_p.R153W			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	238					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCTTCAACCGAAAGCTCAGT	0.428													11	60					0	0	0	0	A	26812851	G	A	26812851	3	1	503	1	0	0	0	0	1	0	0	0	6216	1057	37	1	721	1	GABRB3	15	26812851	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08		26812851	75718541	95	97348											
OCA2	4948	broad.mit.edu	37	chr15	28326985	28326985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctccaccgccggcgcgccGgggtaccgcctgccgtctct	3	6	13	19	7	1	0	0	0	1	0	3	0	2	0	7	3	3	2	7	3	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:28326985G>A	ENST00000354638.3	-	2	191	c.36C>T	c.(34-36)ccC>ccT	p.P12P	OCA2_ENST00000382996.2_Silent_p.P12P|OCA2_ENST00000353809.5_Silent_p.P12P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	12					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCGGCGCGCCGGGGTACCGCC	0.652									Oculocutaneous Albinism				4	32					0	0	0	0	A	28326985	G	A	28326985	2	1	503	1	0	0	0	0	0	0	0	1	10886	1103	39	1		1	OCA2	15	28326985	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	1514134	28326985	74204407	96	97349											
ADAM10	102	broad.mit.edu	37	chr15	58889782	58889782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccatttgataactctctcgGggccgctgacgctggggttg	5	11	13	12	3	1	2	0	2	1	0	3	2	1	2	2	4	1	3	2	4	1	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:58889782G>A	ENST00000260408.3	-	16	2654	c.2211C>T	c.(2209-2211)ccC>ccT	p.P737P	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.P436P|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	737					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AACTCTCTCGGGGCCGCTGAC	0.473													27	38					0	0	0	0	A	58889782	G	A	58889782	2	1	503	1	0	0	0	0	0	0	0	1	234	1219	43	4		4	ADAM10	15	58889782	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	30562797	58889782	43641610	97	97350											
CCDC33	80125	broad.mit.edu	37	chr15	74536343	74536343	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaacactgaagacccagaGgagcccctgatcgcctccca	12	4	9	16	1	0	5	0	2	0	3	2	6	1	6	5	1	2	0	5	1	2	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:74536343G>A	ENST00000321288.5	+	4	648		c.e4-1		CCDC33_ENST00000398814.3_Silent_p.E13E			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33								protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGACCCAGAGGAGCCCCTGA	0.552													32	122					0	0	0	0	A	74536343	G	A	74536343	5	1	503	1	0	0	0	0	0	0	1	0	2832	991	35	4	45	4	CCDC33	15	74536343	Splice_Site	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	15646561	74536343	27995049	98	97351											
COX5A	9377	broad.mit.edu	37	chr15	75219166	75219166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttaaccgtctgcatgcccGcaaagcagcatcaatgattt	12	11	7	11	2	2	1	1	1	1	0	2	1	2	1	2	0	5	4	2	0	3	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:75219166G>A	ENST00000322347.6	-	3	433	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	COX5A_ENST00000568783.1_Missense_Mutation_p.R94W|COX5A_ENST00000564811.1_Missense_Mutation_p.R94W|COX5A_ENST00000568517.1_Missense_Mutation_p.R13W|COX5A_ENST00000567270.1_Missense_Mutation_p.R55W|COX5A_ENST00000562233.1_Intron	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	94					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						CTGCATGCCCGCAAAGCAGCA	0.388													5	111					0	0	0	0	A	75219166	G	A	75219166	3	1	503	1	0	0	0	0	1	0	0	0	3802	1086	38	1	180	1	COX5A	15	75219166	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	682823	75219166	27312226	99	97352											
FSD2	123722	broad.mit.edu	37	chr15	83451772	83451772	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgttcttgttttccaaaAttctcctgcaagacagttga	9	18	6	8	0	2	2	0	1	2	1	4	2	3	2	2	0	1	4	2	0	3	8			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:83451772A>G	ENST00000334574.8	-	4	922	c.741T>C	c.(739-741)aaT>aaC	p.N247N	FSD2_ENST00000541889.1_Silent_p.N247N			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	247										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GTTTTCCAAAATTCTCCTGCA	0.338													107	47					0	0	0	0	G	83451772	A	G	83451772	2	3	503	1	0	0	0	0	0	0	0	1	6119	98	4	5		5	FSD2	15	83451772	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	8232606	83451772	19079620	100	97353											
RHCG	51458	broad.mit.edu	37	chr15	90021122	90021122	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagacgaagccgatgatGagggcaccgtaaggcatgag	12	4	15	10	4	0	4	0	3	0	1	0	6	0	4	3	2	1	4	3	2	2	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:90021122G>T	ENST00000268122.4	-	6	989	c.921C>A	c.(919-921)ctC>ctA	p.L307L	RHCG_ENST00000544600.1_Silent_p.L307L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	307					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGCCGATGATGAGGGCACCGT	0.617													10	46					4.68919e-08	4.99973e-08	1	0	T	90021122	G	T	90021122	2	4	503	1	0	0	0	0	0	0	0	1	13409	1277	45	2		2	RHCG	15	90021122	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	6569350	90021122	12510270	101	97354											
IL4R	3566	broad.mit.edu	37	chr16	27353504	27353504	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgagcatctctacttgcGagtggaagatgaatggtccc	11	10	11	9	1	1	3	0	2	1	1	3	5	2	4	1	2	3	1	1	2	3	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:27353504G>T	ENST00000395762.2	+	4	392	c.133G>T	c.(133-135)Gag>Tag	p.E45*	IL4R_ENST00000449195.1_Nonsense_Mutation_p.E45*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.E45*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.E45*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.E30*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	45					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCTACTTGCGAGTGGAAGAT	0.587													29	63					3.73148e-12	4.20117e-12	1	0	T	27353504	G	T	27353504	4	4	503	1	0	0	0	0	0	1	0	0	7751	1059	37	3	139	3	IL4R	16	27353504	Nonsense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08		27353504	63001249	102	97355											
HEATR3	55027	broad.mit.edu	37	chr16	50102745	50102745	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgacatggtgactaaggaTatcatgacccctctggttgc	10	11	11	9	0	2	3	1	3	1	0	2	5	2	4	2	3	1	1	2	3	2	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:50102745T>C	ENST00000299192.7	+	3	557	c.366T>C	c.(364-366)gaT>gaC	p.D122D	HEATR3_ENST00000285767.4_Silent_p.D36D	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	122							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGACTAAGGATATCATGACCC	0.373													47	182					0	0	0	0	C	50102745	T	C	50102745	2	2	503	1	0	0	0	0	0	0	0	1	7079	1403	49	5		5	HEATR3	16	50102745	Silent	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	22749241	50102745	40252008	103	97356											
RRAD	6236	broad.mit.edu	37	chr16	66957606	66957606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccatgcagtggccgggCaaccagcggcccccgtcctg	6	5	14	16	3	0	0	0	0	0	0	1	0	1	0	6	4	3	2	6	4	1	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:66957606C>A	ENST00000299759.6	-	4	712	c.462G>T	c.(460-462)ttG>ttT	p.L154F	RRAD_ENST00000420652.1_Missense_Mutation_p.L154F			P55042	RAD_HUMAN	Ras-related associated with diabetes	154					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGTGGCCGGGCAACCAGCGGC	0.612													18	81					2.94398e-08	3.15987e-08	1	0	A	66957606	C	A	66957606	3	1	503	1	0	0	0	0	1	0	0	0	13756	709	25	4	472	4	RRAD	16	66957606	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	16854861	66957606	23397147	104	97357											
DDX28	55794	broad.mit.edu	37	chr16	68056207	68056207	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctaagatgtagtccAccagttccaggaagctttca	10	13	7	11	0	3	1	1	0	2	1	6	2	5	2	3	1	1	3	3	1	3	5			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:68056207A>T	ENST00000332395.5	-	1	1563	c.899T>A	c.(898-900)gTg>gAg	p.V300E		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	300	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GATGTAGTCCACCAGTTCCAG	0.507													23	91					0	0	0	0	T	68056207	A	T	68056207	3	4	503	1	0	0	0	0	1	0	0	0	4387	159	6	5	727	5	DDX28	16	68056207	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	1098601	68056207	22298546	105	97358											
TP53	7157	broad.mit.edu	37	chr17	7578231	7578245	+	In_Frame_Del	DEL	CAAATACTCCACACG	CAAATACTCCACACG	-																															cgaaaagtgtttctgtcatcCaaatactccacacgcaaatt																								rs142813240		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:7578231_7578245delCAAATACTCCACACG	ENST00000420246.2	-	6	736_750	c.604_618delCGTGTGGAGTATTTG	c.(604-618)del	p.RVEYL202del	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_In_Frame_Del_p.RVEYL202del|TP53_ENST00000413465.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000359597.4_In_Frame_Del_p.RVEYL202del|TP53_ENST00000445888.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000455263.2_In_Frame_Del_p.RVEYL202del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	202	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		LR -> FC (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.E204*(33)|p.Y205S(14)|p.Y205D(13)|p.Y205F(8)|p.Y205N(8)|p.0?(8)|p.L206*(7)|p.V203E(6)|p.R202S(6)|p.Y205H(5)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.R202H(4)|p.L206fs*41(4)|p.R202C(4)|p.R202P(4)|p.E204D(4)|p.Y205*(4)|p.E111*(3)|p.V203fs*44(3)|p.V203L(3)|p.V203V(3)|p.R202L(3)|p.E204fs*5(3)|p.E72*(3)|p.V203M(2)|p.E204G(2)|p.Y73N(2)|p.Y112N(2)|p.E204fs*43(2)|p.E204E(2)|p.E204K(2)|p.V203fs*6(2)|p.V203A(1)|p.Y205fs*42(1)|p.?fs(1)|p.P191fs*6(1)|p.E204fs*4(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)|p.E72D(1)|p.R202G(1)|p.Y73S(1)|p.N200fs*4(1)|p.V203_E204>V*(1)|p.G199fs*42(1)|p.R202R(1)|p.Y205fs*43(1)|p.E204A(1)|p.L201_R202>FC(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.V203_E204>LV(1)|p.R202fs*7(1)|p.Y112S(1)|p.L206F(1)|p.L206L(1)|p.E111D(1)|p.E204V(1)|p.E204Q(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)		TTCTGTCATCCAAATACTCCACACGCAAATTTCCT	0.549		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)			18	23	---	---	---	---					-	7578245	CAAATACTCCACACG	-	7578231	7	5	503	1	0	1	0	1	0	0	0	0	16476	593	21	0	676	0	TP53	17	7578231	In_Frame_Del	DEL	CAAATACTCCACACG	TCGA-UF-A7JK-01A-11D-A34J-08		7578231	73616979	106	97359											
MYH13	8735	broad.mit.edu	37	chr17	10247330	10247330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctggaagttgttggattTtccaagatgctggtcataca	9	15	10	7	0	2	1	1	0	1	1	3	3	3	3	1	3	2	3	1	3	3	6			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:10247330T>C	ENST00000418404.3	-	15	1844	c.1681A>G	c.(1681-1683)Aaa>Gaa	p.K561E	MYH13_ENST00000570743.1_Missense_Mutation_p.K561E|MYH13_ENST00000252172.4_Missense_Mutation_p.K561E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	561	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGTTGGATTTTCCAAGATGC	0.547													123	51					0	0	0	0	C	10247330	T	C	10247330	3	2	503	1	0	0	0	0	1	0	0	0	10102	1850	64	5	4239	5	MYH13	17	10247330	Missense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	2669099	10247330	70947880	107	97360											
MYH1	4619	broad.mit.edu	37	chr17	10399294	10399294	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagctgaacacgctcActggcatccaggagctcctg	9	7	12	13	1	1	1	1	1	0	0	3	3	3	3	2	3	4	5	2	3	1	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:10399294A>G	ENST00000226207.5	-	35	5236	c.5142T>C	c.(5140-5142)agT>agC	p.S1714S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1714						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAACACGCTCACTGGCATCCA	0.502													21	67					0	0	0	0	G	10399294	A	G	10399294	2	3	503	1	0	0	0	0	0	0	0	1	10099	156	6	5		5	MYH1	17	10399294	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	151964	10399294	70795916	108	97361											
MYH1	4619	broad.mit.edu	37	chr17	10404677	10404677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttgttcatctcaatctggGctgaggtggccccaccggct	5	12	11	13	1	4	1	2	1	3	0	5	1	4	1	3	4	0	3	3	4	1	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:10404677G>T	ENST00000226207.5	-	27	3582	c.3488C>A	c.(3487-3489)gCc>gAc	p.A1163D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1163				A -> T (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCAATCTGGGCTGAGGTGGC	0.637													39	195					8.01111e-26	9.34629e-26	1	0	T	10404677	G	T	10404677	3	4	503	1	0	0	0	0	1	0	0	0	10099	1203	42	4	2387	4	MYH1	17	10404677	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	5383	10404677	70790533	109	97362											
MAPK7	5598	broad.mit.edu	37	chr17	19284199	19284199	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtatgtggccacgcgctGgtaccgtgcgcccgagctca	6	8	14	13	5	1	1	1	1	0	0	1	2	1	1	3	2	3	4	3	2	2	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:19284199G>A	ENST00000308406.5	+	4	1063	c.677G>A	c.(676-678)tGg>tAg	p.W226*	MAPK7_ENST00000395604.3_Nonsense_Mutation_p.W226*|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Nonsense_Mutation_p.W226*|MAPK7_ENST00000299612.7_Nonsense_Mutation_p.W87*	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	226	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|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	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCCACGCGCTGGTACCGTGCG	0.562													6	49					0	0	0	0	A	19284199	G	A	19284199	4	1	503	1	0	0	0	0	0	1	0	0	9351	1357	47	4	687	4	MAPK7	17	19284199	Nonsense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	8879522	19284199	61911011	110	97363											
KRT40	125115	broad.mit.edu	37	chr17	39140333	39140334	+	In_Frame_Ins	INS	-	-	AAAGTAGCATGGTTG																															ggactattacaactcccagtINSaaagtagcatggcaggaggc																										TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:39140333_39140334insAAAGTAGCATGGTTG	ENST00000377755.4	-	1	226_227	c.192_193insCAACCATGCTACTTT	c.(190-195)ttctgg>ttCAACCATGCTACTTTctgg	p.63_64insFNHAT	KRT40_ENST00000398486.2_In_Frame_Ins_p.63_64insFNHAT			Q6A162	K1C40_HUMAN	keratin 40	63	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CAACTCCCAGTAAAGTAGCATG	0.545													11	180	---	---	---	---					AAAGTAGCATGGTTG	39140334	-	AAAGTAGCATGGTTG	39140333	7	5	503	1	0	1	1	0	0	0	0	0	8530	1638	57	0	1130	0	KRT40	17	39140333	In_Frame_Ins	INS	-	TCGA-UF-A7JK-01A-11D-A34J-08	19856134	39140333	42054877	111	97364											
TTC25	83538	broad.mit.edu	37	chr17	40091513	40091513	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaactgcctggttgctcGctcaaagtgcttcctgaaga	10	10	10	11	1	1	3	1	1	0	2	3	3	2	3	2	1	4	4	2	1	4	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:40091513G>T	ENST00000591658.1	+	0	226							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CTGGTTGCTCGCTCAAAGTGC	0.517													8	38					1.12685e-05	1.17807e-05	1	0	T	40091513	G	T	40091513	1	4	503	0	1	0	0	0	0	0	0	0	16789	1087	38	3		3	TTC25	17	40091513	RNA	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	951180	40091513	41103697	112	97365											
KAT2A	2648	broad.mit.edu	37	chr17	40272335	40272335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatccaccaccatccccaGcagtcggtttatctcatcct	9	10	4	18	1	1	0	1	0	1	0	6	0	4	0	6	1	1	2	6	1	1	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:40272335G>A	ENST00000225916.5	-	3	570	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	CTD-2132N18.3_ENST00000592574.1_Silent_p.L207L	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	173					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACCATCCCCAGCAGTCGGTTT	0.458													21	60					0	0	0	0	A	40272335	G	A	40272335	2	1	503	1	0	0	0	0	0	0	0	1	8034	962	34	4		4	KAT2A	17	40272335	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	180822	40272335	40922875	113	97366											
DBF4B	80174	broad.mit.edu	37	chr17	42786728	42786728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagtaggctccgggccccgGacctaggtgggtaacaggac	9	5	16	11	2	0	1	0	0	0	1	1	3	1	3	4	6	1	3	4	6	3	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:42786728G>A	ENST00000315005.3	+	2	214	c.76G>A	c.(76-78)Gac>Aac	p.D26N	DBF4B_ENST00000393547.2_Missense_Mutation_p.D26N|DBF4B_ENST00000398338.3_Missense_Mutation_p.D26N|DBF4B_ENST00000526915.1_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	26					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCGGGCCCCGGACCTAGGTGG	0.537													7	341					0	0	0	0	A	42786728	G	A	42786728	3	1	503	1	0	0	0	0	1	0	0	0	4282	1174	41	2	82	2	DBF4B	17	42786728	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	2514393	42786728	38408482	114	97367											
WNT3	7473	broad.mit.edu	37	chr17	44845707	44845707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttgcaggtgtgcacgtcGtagatgcgaatacactcctg	9	11	11	10	3	0	1	0	0	0	1	2	2	1	1	1	1	5	3	1	1	4	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:44845707G>A	ENST00000225512.5	-	4	1209	c.1047C>T	c.(1045-1047)taC>taT	p.Y349Y		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	349					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGTGCACGTCGTAGATGCGAA	0.617													14	43					0	0	0	0	A	44845707	G	A	44845707	2	1	503	1	0	0	0	0	0	0	0	1	17484	1140	40	1		1	WNT3	17	44845707	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	2058979	44845707	36349503	115	97368											
OR4D2	124538	broad.mit.edu	37	chr17	56247582	56247582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtactgagacttgcctGcactgacacctcactgctgg	9	9	9	14	0	1	2	1	2	0	1	1	3	1	2	3	1	4	3	3	1	2	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:56247582G>A	ENST00000545221.1	+	1	566	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						AGACTTGCCTGCACTGACACC	0.512													4	111					0	0	0	0	A	56247582	G	A	56247582	3	1	503	1	0	0	0	0	1	0	0	0	11127	1319	46	4	568	4	OR4D2	17	56247582	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	11401875	56247582	24947628	116	97369											
CASKIN2	57513	broad.mit.edu	37	chr17	73498857	73498857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggtggccctggggcCgggctagagggtgagccctg	5	5	20	11	1	0	2	0	1	0	1	0	3	0	3	4	7	1	1	4	7	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:73498857C>T	ENST00000321617.3	-	18	2884	c.2298G>A	c.(2296-2298)ccG>ccA	p.P766P	CASKIN2_ENST00000433559.2_Silent_p.P684P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	766	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCTGGGGCCGGGCTAGAGG	0.667													15	28					0	0	0	0	T	73498857	C	T	73498857	2	4	503	1	0	0	0	0	0	0	0	1	2692	639	23	1		1	CASKIN2	17	73498857	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	17251275	73498857	7696353	117	97370											
KCTD1	284252	broad.mit.edu	37	chr18	24128223	24128225	+	In_Frame_Del	DEL	TCC	TCC	-																															ccagccccatctcctcctctTcctcctcctcctcgtcctcc																										TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr18:24128223_24128225delTCC	ENST00000417602.1	-	1	275_277	c.276_278delGGA	c.(274-279)gaa>ga	p.EE94del	KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.655													2	4	---	---	---	---					-	24128225	TCC	-	24128223	7	5	503	1	0	1	0	1	0	0	0	0	8149	1783	62	0	2339	0	KCTD1	18	24128223	In_Frame_Del	DEL	TCC	TCGA-UF-A7JK-01A-11D-A34J-08		24128223	53949025	118	97371											
GRIN3B	116444	broad.mit.edu	37	chr19	1004615	1004615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcactttaaggtgtggaGccttcgccgggacccacggg	6	8	15	12	4	0	0	0	0	0	0	2	2	0	2	3	5	1	1	3	5	1	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:1004615G>T	ENST00000234389.3	+	3	1134	c.1115G>T	c.(1114-1116)aGc>aTc	p.S372I	GRIN3B_ENST00000588335.1_Intron	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	372					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AAGGTGTGGAGCCTTCGCCGG	0.706													3	8					0.115264	0.115264	1	0	T	1004615	G	T	1004615	3	4	503	1	0	0	0	0	1	0	0	0	6834	971	34	4	1125	4	GRIN3B	19	1004615	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08		1004615	58124368	119	97372											
TCF3	6929	broad.mit.edu	37	chr19	1619317	1619317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgcccagcgctcaccaGgcctgcgtgccgcccgccca	4	4	10	23	5	1	0	1	0	0	0	2	0	1	0	7	1	3	1	7	1	0	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:1619317G>A	ENST00000262965.5	-	15	1668	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	TCF3_ENST00000453954.2_Silent_p.L358L|TCF3_ENST00000395423.3_Silent_p.L391L|TCF3_ENST00000344749.5_Silent_p.L442L|TCF3_ENST00000588136.1_Silent_p.L442L	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	442					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GCGCTCACCAGGCCTGCGTGC	0.741			T	"PBX1, HLF, TFPT"	pre B-ALL								4	4					0	0	0	0	A	1619317	G	A	1619317	2	1	503	1	0	0	0	0	0	0	0	1	15788	991	35	4		4	TCF3	19	1619317	Silent	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	614702	1619317	57509666	120	97373											
NCLN	56926	broad.mit.edu	37	chr19	3207443	3207443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggcattgctgcctacctCggcatggcctacgtggctgt	4	12	13	12	2	0	0	0	0	0	0	1	0	0	0	3	4	4	5	3	4	2	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:3207443C>T	ENST00000246117.4	+	14	2039	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	NCLN_ENST00000590671.1_Silent_p.L462L	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	536					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCTACCTCGGCATGGCCT	0.672													54	108					0	0	0	0	T	3207443	C	T	3207443	2	4	503	1	0	0	0	0	0	0	0	1	10297	871	31	1		1	NCLN	19	3207443	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	1588126	3207443	55921540	121	97374											
KRI1	65095	broad.mit.edu	37	chr19	10668543	10668543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcgctttttcttcctcGgctggctggggtcgtagtcg	1	14	13	13	5	1	0	0	0	1	0	6	0	2	0	2	4	0	4	2	4	1	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:10668543G>A	ENST00000312962.6	-	15	1425	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	KRI1_ENST00000361821.5_Missense_Mutation_p.P465L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	469										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTTCTTCCTCGGCTGGCTGGG	0.667													4	14					0	0	0	0	A	10668543	G	A	10668543	3	1	503	1	0	0	0	0	1	0	0	0	8496	1116	39	1	743	1	KRI1	19	10668543	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	7461100	10668543	48460440	122	97375											
FXYD5	53827	broad.mit.edu	37	chr19	35655077	35655077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcatcccactgatgacaCcacgacgctctctgagagac	11	7	8	15	2	2	4	1	3	1	1	4	6	3	4	2	0	1	2	2	0	0	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:35655077C>T	ENST00000342879.3	+	5	1089	c.311C>T	c.(310-312)aCc>aTc	p.T104I	FXYD5_ENST00000543307.1_Missense_Mutation_p.T104I|FXYD5_ENST00000541435.2_Missense_Mutation_p.T104I|FXYD5_ENST00000423817.3_Missense_Mutation_p.T104I|FXYD5_ENST00000392219.2_Missense_Mutation_p.T104I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000590686.1_Missense_Mutation_p.T104I|FXYD5_ENST00000392217.3_Missense_Mutation_p.T33I|FXYD5_ENST00000588699.1_Missense_Mutation_p.T104I			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	104					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACTGATGACACCACGACGCTC	0.557													13	41					0	0	0	0	T	35655077	C	T	35655077	3	4	503	1	0	0	0	0	1	0	0	0	6169	507	18	4	329	4	FXYD5	19	35655077	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	24986534	35655077	23473906	123	97376											
CEACAM16	388551	broad.mit.edu	37	chr19	45206848	45206848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggaggctgtgcgcccCgatggcagcctggacatcca	6	5	17	13	3	0	0	0	0	0	0	1	3	1	2	4	5	2	2	4	5	0	0			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:45206848C>T	ENST00000587331.1	+	3	482	c.267C>T	c.(265-267)ccC>ccT	p.P89P	CEACAM16_ENST00000405314.2_Silent_p.P89P|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	89										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CTGTGCGCCCCGATGGCAGCC	0.662													25	12					0	0	0	0	T	45206848	C	T	45206848	2	4	503	1	0	0	0	0	0	0	0	1	3217	639	23	1		1	CEACAM16	19	45206848	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	9551771	45206848	13922135	124	97377											
ZNF835	90485	broad.mit.edu	37	chr19	57175877	57175877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacgagcggttgcggaaCgccttggcgcactgggcgca	7	5	18	11	6	0	0	0	0	0	0	0	3	0	2	1	5	3	3	1	5	1	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:57175877C>T	ENST00000537055.2	-	2	921	c.690G>A	c.(688-690)gcG>gcA	p.A230A		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.A252A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTTGCGGAACGCCTTGGCGC	0.697													11	30					0	0	0	0	T	57175877	C	T	57175877	2	4	503	1	0	0	0	0	0	0	0	1	18279	523	19	1		1	ZNF835	19	57175877	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	11969029	57175877	1953106	125	97378											
PANK2	80025	broad.mit.edu	37	chr20	3897632	3897632	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaaagaggacctggccAgagcgactttgatcaccatc	12	8	10	11	1	2	3	2	1	0	2	3	5	2	4	3	2	1	1	3	2	2	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:3897632A>T	ENST00000497424.1	+	5	909	c.598A>T	c.(598-600)Aga>Tga	p.R200*	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Nonsense_Mutation_p.R491*	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	491					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGACCTGGCCAGAGCGACTTT	0.448													42	80					0	0	0	0	T	3897632	A	T	3897632	4	4	503	1	0	0	0	0	0	1	0	0	11488	180	7	5	1489	5	PANK2	20	3897632	Nonsense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08		3897632	59127888	126	97379											
FERMT1	55612	broad.mit.edu	37	chr20	6065882	6065882	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagctgtctgccatggttTtgcccttcgatgccaacatg	7	12	11	11	1	1	0	0	0	1	0	2	2	1	1	3	2	5	2	3	2	1	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:6065882T>C	ENST00000217289.4	-	12	2212	c.1424A>G	c.(1423-1425)aAa>aGa	p.K475R	FERMT1_ENST00000536936.1_Missense_Mutation_p.K218R|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	475	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TGCCATGGTTTTGCCCTTCGA	0.512													19	102					0	0	0	0	C	6065882	T	C	6065882	3	2	503	1	0	0	0	0	1	0	0	0	5862	1841	64	5	625	5	FERMT1	20	6065882	Missense_Mutation	SNP	T	TCGA-UF-A7JK-01A-11D-A34J-08	2168250	6065882	56959638	127	97380											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31975138	31975138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgactcacacaaaggcaGacgtggcactggcgcttgtc	10	7	12	12	2	1	2	1	1	0	1	2	2	1	2	0	3	0	3	0	3	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:31975138G>T	ENST00000357886.4	-	6	899	c.746C>A	c.(745-747)tCt>tAt	p.S249Y	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.S159Y|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000473997.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	249					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CACAAAGGCAGACGTGGCACT	0.507													19	30					7.21436e-19	8.29652e-19	1	0	T	31975138	G	T	31975138	3	4	503	1	0	0	0	0	1	0	0	0	3174	942	33	2	1053	2	CDK5RAP1	20	31975138	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	25909256	31975138	31050382	128	97381											
TRPC4AP	26133	broad.mit.edu	37	chr20	33680571	33680571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacccagccgctaccGgcgccgccgccatgtctcct	5	6	9	21	5	1	1	0	0	1	1	3	1	2	1	8	1	2	1	8	1	1	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:33680571G>A	ENST00000252015.2	-	1	103	c.14C>T	c.(13-15)cCg>cTg	p.P5L	TRPC4AP_ENST00000451813.1_Missense_Mutation_p.P5L|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.P5L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	5	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	p.P5L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCCGCTACCGGCGCCGCCGC	0.741													9	12					0	0	0	0	A	33680571	G	A	33680571	3	1	503	1	0	0	0	0	1	0	0	0	16676	1116	39	1	2455	1	TRPC4AP	20	33680571	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	1705433	33680571	29344949	129	97382											
SLC32A1	140679	broad.mit.edu	37	chr20	37357241	37357241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcttcgtgcactccctcGagggcctcatcgaagcctac	6	8	10	17	4	1	0	1	0	0	0	5	2	2	0	4	2	3	2	4	2	2	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:37357241G>A	ENST00000217420.1	+	2	1800	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	513					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCACTCCCTCGAGGGCCTCAT	0.667													5	30					0	0	0	0	A	37357241	G	A	37357241	3	1	503	1	0	0	0	0	1	0	0	0	14653	1059	37	1	1543	1	SLC32A1	20	37357241	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	3676670	37357241	25668279	130	97383											
SPINT4	391253	broad.mit.edu	37	chr20	44352533	44352533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcagatccctgcaaattgGacatgaattttggaagctgc	12	11	10	8	0	0	2	0	1	0	1	1	4	1	4	1	2	4	3	1	2	3	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:44352533G>A	ENST00000279058.3	+	2	147	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	44	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				CTGCAAATTGGACATGAATTT	0.408													24	134					0	0	0	0	A	44352533	G	A	44352533	3	1	503	1	0	0	0	0	1	0	0	0	15160	1174	41	2	136	2	SPINT4	20	44352533	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	6995292	44352533	18672987	131	97384											
TMEM50B	757	broad.mit.edu	37	chr21	34841096	34841096	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtctttctcacttaccaAtatacctgcgacaacagatg	12	11	5	13	1	2	1	1	0	2	1	3	2	2	1	3	0	4	0	3	0	5	4			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr21:34841096A>G	ENST00000542230.2	-	2	311	c.97T>C	c.(97-99)Ttg>Ctg	p.L33L		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	33						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						TCACTTACCAATATACCTGCG	0.423													28	56					0	0	0	0	G	34841096	A	G	34841096	2	3	503	1	0	0	0	0	0	0	0	1	16270	98	4	5		5	TMEM50B	21	34841096	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08		34841096	13288799	132	97385											
PATZ1	23598	broad.mit.edu	37	chr22	31741062	31741062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgaggtcccaggggggCgaaagagcattatatcggcg	10	6	16	9	4	0	1	0	0	0	1	3	3	2	1	2	5	1	1	2	5	3	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr22:31741062C>T	ENST00000266269.5	-	1	1156	c.527G>A	c.(526-528)cGc>cAc	p.R176H	PATZ1_ENST00000215919.3_Missense_Mutation_p.R176H|PATZ1_ENST00000351933.4_Missense_Mutation_p.R176H|PATZ1_ENST00000405309.3_Missense_Mutation_p.R176H	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	176					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCCAGGGGGGCGAAAGAGCAT	0.592													32	93					0	0	0	0	T	31741062	C	T	31741062	3	4	503	1	0	0	0	0	1	0	0	0	11547	768	27	1	1839	1	PATZ1	22	31741062	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		31741062	19563504	133	97386											
WWC3	55841	broad.mit.edu	37	chrX	10084513	10084513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggaagaagccaccCgcttaacatcctacctccag	11	7	8	15	1	0	1	0	0	0	1	2	2	2	2	5	1	5	3	5	1	4	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:10084513C>T	ENST00000380861.4	+	10	1421	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	WWC3_ENST00000454666.1_Missense_Mutation_p.R344C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	344										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGAAGCCACCCGCTTAACATC	0.413													25	58					0	0	0	0	T	10084513	C	T	10084513	3	4	503	1	0	0	0	0	1	0	0	0	17509	652	23	1	1064	1	WWC3	23	10084513	Missense_Mutation	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08		10084513	145186047	134	97387											
FOXR2	139628	broad.mit.edu	37	chrX	55650774	55650774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattaagaaacaacccccaCtgtggcctcagtgtgcagga	12	7	10	12	0	1	1	1	0	0	1	1	2	1	2	3	2	3	2	3	2	3	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:55650774C>T	ENST00000339140.3	+	1	942	c.630C>T	c.(628-630)caC>caT	p.H210H		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	210					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.H210H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAACCCCCACTGTGGCCTCA	0.498													29	35					0	0	0	0	T	55650774	C	T	55650774	2	4	503	1	0	0	0	0	0	0	0	1	6079	564	20	4		4	FOXR2	23	55650774	Silent	SNP	C	TCGA-UF-A7JK-01A-11D-A34J-08	45566261	55650774	99619786	135	97388											
CYLC1	1538	broad.mit.edu	37	chrX	83128916	83128916	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacaagaaaaaggatgcAaagaaaattacattctctac	20	8	7	6	0	1	3	0	1	1	2	2	5	1	4	0	1	3	1	0	1	8	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:83128916A>C	ENST00000329312.4	+	4	1237	c.1200A>C	c.(1198-1200)gcA>gcC	p.A400A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	400					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAAGGATGCAAAGAAAATTA	0.328													4	12					0	0	0	0	C	83128916	A	C	83128916	2	2	503	1	0	0	0	0	0	0	0	1	4173	117	5	5		5	CYLC1	23	83128916	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	27478142	83128916	72141644	136	97389											
CHRDL1	91851	broad.mit.edu	37	chrX	109937530	109937530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcggcttggtggaggAtcatagtgagagcggtggta	7	10	18	6	2	1	1	1	1	0	1	2	4	1	3	1	6	1	2	1	6	2	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:109937530A>G	ENST00000218054.4	-	8	832	c.636T>C	c.(634-636)gaT>gaC	p.D212D	CHRDL1_ENST00000372042.1_Silent_p.D213D|CHRDL1_ENST00000444321.2_Silent_p.D212D|CHRDL1_ENST00000372045.1_Silent_p.D206D|CHRDL1_ENST00000434224.1_Silent_p.D133D|CHRDL1_ENST00000482160.1_Silent_p.D133D|CHRDL1_ENST00000394797.4_Silent_p.D212D	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	206					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTGGTGGAGGATCATAGTGAG	0.473													24	46					0	0	0	0	G	109937530	A	G	109937530	2	3	503	1	0	0	0	0	0	0	0	1	3402	330	12	5		5	CHRDL1	23	109937530	Silent	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	26808614	109937530	45333030	137	97390											
ZIC3	7547	broad.mit.edu	37	chrX	136649786	136649786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagtctttcaaggcgaaGtacaaactggtcaaccacat	14	8	9	10	1	3	0	2	0	1	0	3	1	3	0	1	3	3	2	1	3	6	2			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:136649786G>T	ENST00000287538.5	+	1	1486	c.936G>T	c.(934-936)aaG>aaT	p.K312N	ZIC3_ENST00000370606.3_Missense_Mutation_p.K312N	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	312	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TCAAGGCGAAGTACAAACTGG	0.602													86	25					1.42479e-40	1.68669e-40	1	0	T	136649786	G	T	136649786	3	4	503	1	0	0	0	0	1	0	0	0	17775	1020	36	4	938	4	ZIC3	23	136649786	Missense_Mutation	SNP	G	TCGA-UF-A7JK-01A-11D-A34J-08	26712256	136649786	18620774	138	97391											
AFF2	2334	broad.mit.edu	37	chrX	148039927	148039927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctggaggaggccacaactAtctgcttgctccctccttgc	6	10	10	15	0	1	0	0	0	1	0	3	2	3	2	4	3	4	2	4	3	2	3			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:148039927A>G	ENST00000370460.2	+	12	3108	c.2629A>G	c.(2629-2631)Atc>Gtc	p.I877V	AFF2_ENST00000342251.3_Missense_Mutation_p.I844V|AFF2_ENST00000286437.5_Missense_Mutation_p.I518V|AFF2_ENST00000370457.5_Missense_Mutation_p.I844V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	877					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCACAACTATCTGCTTGCT	0.512													148	33					0	0	0	0	G	148039927	A	G	148039927	3	3	503	1	0	0	0	0	1	0	0	0	357	449	16	5	2730	5	AFF2	23	148039927	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08	11390141	148039927	7230633	139	97392											
HMGB3	3149	broad.mit.edu	37	chrX	150156315	150156316	+	Frame_Shift_Ins	INS	-	-	A																															gtcctgctaaagttgcccggINSaaaaaggtggaagaggaaga																										TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:150156315_150156316insA	ENST00000325307.7	+	5	627_628	c.531_532insA	c.(529-534)cgaaaafs	p.RK177fs	HMGB3_ENST00000448905.2_Frame_Shift_Ins_p.RK177fs	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	177					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGCCCGGAAAAaggtgga	0.446													50	24	---	---	---	---					A	150156316	-	A	150156315	7	5	503	1	0	1	1	0	0	0	0	0	7277	1161	41	0	545	0	HMGB3	23	150156315	Frame_Shift_Ins	INS	-	TCGA-UF-A7JK-01A-11D-A34J-08	2116388	150156315	5114245	140	97393											
USP9Y	8287	broad.mit.edu	37	chrY	14832660	14832660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcaaacctggatgacAtgatcaacaggtgcatttgt	12	10	11	8	0	1	2	1	2	0	0	1	3	1	3	1	3	4	3	1	3	2	1			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrY:14832660A>T	ENST00000338981.3	+	4	1180	c.235A>T	c.(235-237)Atg>Ttg	p.M79L	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	79					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGGATGACATGATCAACAG	0.428													32	35					0	0	0	0	T	14832660	A	T	14832660	3	4	503	1	0	0	0	0	1	0	0	0	17187	217	8	5	241	5	USP9Y	24	14832660	Missense_Mutation	SNP	A	TCGA-UF-A7JK-01A-11D-A34J-08		14832660	44540906	141	97394											
MFN2	9927	broad.mit.edu	37	chr1	12067225	12067225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagagggccttcaagcGccagtttgtggagcatgcca	10	7	14	10	1	1	1	1	0	0	1	1	3	1	2	3	3	3	2	3	3	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:12067225G>T	ENST00000235329.5	+	17	2310	c.1988G>T	c.(1987-1989)cGc>cTc	p.R663L	MFN2_ENST00000444836.1_Missense_Mutation_p.R663L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	663					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCCTTCAAGCGCCAGTTTGTG	0.602													15	41					6.72482e-11	7.21613e-11	1	0	T	12067225	G	T	12067225	3	4	504	1	0	0	0	0	1	0	0	0	9593	1087	38	3	2046	3	MFN2	1	12067225	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		12067225	237183396	1	97395											
PADI3	51702	broad.mit.edu	37	chr1	17586195	17586195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggtggcgctttgacgCgactttggagatcatcgtgg	6	10	16	9	5	1	2	1	1	0	1	2	4	1	2	0	5	0	1	0	5	0	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:17586195C>T	ENST00000375460.3	+	2	255	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	72					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCTTTGACGCGACTTTGGAG	0.597													17	51					0	0	0	0	T	17586195	C	T	17586195	3	4	504	1	0	0	0	0	1	0	0	0	11450	768	27	1	221	1	PADI3	1	17586195	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	5518970	17586195	231664426	2	97396											
HTR1D	3352	broad.mit.edu	37	chr1	23520183	23520183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgggccttggcctgcCgccagaagagcggggggatg	5	6	17	13	2	0	2	0	0	0	2	1	3	1	3	6	5	2	0	6	5	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:23520183C>T	ENST00000374619.1	-	1	1039	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	177					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	p.R177Q(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTTGGCCTGCCGCCAGAAGAG	0.597													9	39					0	0	0	0	T	23520183	C	T	23520183	3	4	504	1	0	0	0	0	1	0	0	0	7491	652	23	1	607	1	HTR1D	1	23520183	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	5933988	23520183	225730438	3	97397											
LCK	3932	broad.mit.edu	37	chr1	32740385	32740385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggacccactggttacctaCgaaggctccaatccgccggc	8	6	11	16	4	0	0	0	0	0	0	2	2	2	1	5	4	2	2	5	4	4	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:32740385C>T	ENST00000333070.4	+	3	253	c.153C>T	c.(151-153)taC>taT	p.Y51Y	LCK_ENST00000336890.5_Silent_p.Y51Y|LCK_ENST00000373564.3_Silent_p.Y51Y	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	51	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TGGTTACCTACGAAGGCTCCA	0.612			T	TRB@	T-ALL								4	35					0	0	0	0	T	32740385	C	T	32740385	2	4	504	1	0	0	0	0	0	0	0	1	8729	547	19	1		1	LCK	1	32740385	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	9220202	32740385	216510236	4	97398											
NDUFS5	4725	broad.mit.edu	37	chr1	39494450	39494450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaacatagatcgatggttGacaatccagagtggtgaaca	14	10	10	7	1	0	4	0	2	0	2	2	5	1	4	1	2	2	1	1	2	4	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:39494450G>C	ENST00000372969.3	+	2	141	c.54G>C	c.(52-54)ttG>ttC	p.L18F	NDUFS5_ENST00000372967.3_Missense_Mutation_p.L18F	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	18					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	ATCGATGGTTGACAATCCAGA	0.408													8	110					0	0	0	0	C	39494450	G	C	39494450	3	2	504	1	0	0	0	0	1	0	0	0	10365	1281	45	2	56	2	NDUFS5	1	39494450	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	6754065	39494450	209756171	5	97399											
HHLA3	11147	broad.mit.edu	37	chr1	70820689	70820689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccggatctgagcctcccGcagaggaatgcagaatgacg	10	6	12	13	3	1	4	0	2	1	2	3	6	3	6	4	2	2	2	4	2	2	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:70820689G>A	ENST00000359875.5	+	1	195	c.55G>A	c.(55-57)Gca>Aca	p.A19T	HHLA3_ENST00000370940.5_Missense_Mutation_p.A19T|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000432224.1_Missense_Mutation_p.A19T|HHLA3_ENST00000361764.4_Missense_Mutation_p.A19T|HHLA3_ENST00000531950.1_Missense_Mutation_p.A19T	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	19							protein binding			large_intestine(3)|lung(1)	4						TGAGCCTCCCGCAGAGGAATG	0.522													11	25					0	0	0	0	A	70820689	G	A	70820689	3	1	504	1	0	0	0	0	1	0	0	0	7146	1087	38	1	57	1	HHLA3	1	70820689	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	31326239	70820689	178429932	6	97400											
LRRC8C	84230	broad.mit.edu	37	chr1	90179377	90179377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcctgataaactgaggcaGaagctacagacaaatgccca	16	6	8	11	0	0	4	0	2	0	2	1	4	1	4	2	1	4	2	2	1	5	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:90179377G>C	ENST00000370454.4	+	3	1503	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	416						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACTGAGGCAGAAGCTACAGA	0.403													11	83					0	0	0	0	C	90179377	G	C	90179377	3	2	504	1	0	0	0	0	1	0	0	0	9087	933	33	2	1254	2	LRRC8C	1	90179377	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	19358688	90179377	159071244	7	97401											
BCAR3	8412	broad.mit.edu	37	chr1	94033378	94033378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggtgtactggtgccgcaGagcagtccacgtcttttcta	6	13	12	10	2	2	1	0	0	2	1	3	1	3	1	2	2	3	3	2	2	2	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:94033378G>A	ENST00000370244.1	-	12	2293	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L	BCAR3_ENST00000370247.3_Silent_p.L578L|BCAR3_ENST00000539242.1_Silent_p.L345L|BCAR3_ENST00000260502.6_Silent_p.L669L|BCAR3_ENST00000370243.1_Silent_p.L669L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	669	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGGTGCCGCAGAGCAGTCCAC	0.488													8	71					0	0	0	0	A	94033378	G	A	94033378	2	1	504	1	0	0	0	0	0	0	0	1	1353	933	33	2		2	BCAR3	1	94033378	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	3854001	94033378	155217243	8	97402											
ARHGAP29	9411	broad.mit.edu	37	chr1	94640110	94640110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccatatttctgccatttCtctcattaggaggacttgca	8	16	6	11	0	3	0	1	0	2	0	5	2	4	2	2	2	2	1	2	2	2	6			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:94640110C>T	ENST00000260526.6	-	23	3283	c.3101G>A	c.(3100-3102)aGa>aAa	p.R1034K		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1034					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTGCCATTTCTCTCATTAGG	0.398													22	136					0	0	0	0	T	94640110	C	T	94640110	3	4	504	1	0	0	0	0	1	0	0	0	880	913	32	2	688	2	ARHGAP29	1	94640110	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	606732	94640110	154610511	9	97403											
WDR77	79084	broad.mit.edu	37	chr1	111986017	111986018	+	Splice_Site	INS	-	-	A																															tagccaggcgcactgcagccINStgcaaaggagagacgagggt																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:111986017_111986018insA	ENST00000235090.5	-	7	826		c.e7-1		WDR77_ENST00000497278.1_Splice_Site|WDR77_ENST00000411751.2_Splice_Site	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77						ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCACTGCAGCCTGCAAAGGAGA	0.475													2	4	---	---	---	---					A	111986018	-	A	111986017	8	5	504	1	0	1	1	0	0	0	1	0	17423	695	24	0	425	0	WDR77	1	111986017	Splice_Site	INS	-	TCGA-UF-A7JO-01A-11D-A34J-08	17345907	111986017	137264604	10	97404											
MAN1A2	10905	broad.mit.edu	37	chr1	117944812	117944812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcttttctcacagggaaGaggaagaacgtctgagaaat	13	10	10	8	1	3	3	1	1	3	3	4	6	3	5	1	2	1	0	1	2	4	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:117944812G>A	ENST00000356554.3	+	2	1042	c.307G>A	c.(307-309)Gag>Aag	p.E103K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	103					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.E103Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCACAGGGAAGAGGAAGAACG	0.363													6	76					0	0	0	0	A	117944812	G	A	117944812	3	1	504	1	0	0	0	0	1	0	0	0	9280	943	33	2	313	2	MAN1A2	1	117944812	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	5958795	117944812	131305809	11	97405											
SV2A	9900	broad.mit.edu	37	chr1	149879277	149879277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatagaacacagtgttgatGaatgtgcagttgcggaaaaa	15	11	11	4	1	0	3	0	2	0	1	0	4	0	4	0	1	3	3	0	1	6	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:149879277G>A	ENST00000369146.3	-	10	2143	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	SV2A_ENST00000369145.1_Silent_p.F551F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	551					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGTGTTGATGAATGTGCAGT	0.483													15	121					0	0	0	0	A	149879277	G	A	149879277	2	1	504	1	0	0	0	0	0	0	0	1	15507	1281	45	2		2	SV2A	1	149879277	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	31934465	149879277	99371344	12	97406											
RPRD2	23248	broad.mit.edu	37	chr1	150443841	150443841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctataagcagccttctgatgGaatggagagaccatcttccc	11	10	9	11	0	2	2	0	1	2	1	3	5	3	4	3	2	2	1	3	2	3	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:150443841G>C	ENST00000401000.4	+	10	2404	c.2339G>C	c.(2338-2340)gGa>gCa	p.G780A	RPRD2_ENST00000539519.1_Missense_Mutation_p.G780A|RPRD2_ENST00000369068.4_Missense_Mutation_p.G806A|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	806	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTTCTGATGGAATGGAGAGA	0.458													14	43					0	0	0	0	C	150443841	G	C	150443841	3	2	504	1	0	0	0	0	1	0	0	0	13702	1174	41	2	2459	2	RPRD2	1	150443841	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	564564	150443841	98806780	13	97407											
CGN	57530	broad.mit.edu	37	chr1	151491225	151491225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggggagaaaggcggtgactCctttggggtccaaatcaagg	10	8	16	7	1	1	2	1	1	0	1	3	3	3	2	2	7	0	0	2	7	3	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:151491225C>G	ENST00000271636.7	+	2	363	c.230C>G	c.(229-231)tCc>tGc	p.S77C		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	71	Head.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGGTGACTCCTTTGGGGTC	0.577													9	52					0	0	0	0	G	151491225	C	G	151491225	3	3	504	1	0	0	0	0	1	0	0	0	3332	855	30	2	232	2	CGN	1	151491225	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	1047384	151491225	97759396	14	97408											
ADAR	103	broad.mit.edu	37	chr1	154569319	154569319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggactggtcgaccaacttGaattcagcagcaaagccatg	12	7	10	12	2	1	1	1	1	0	0	2	3	1	2	3	2	4	2	3	2	3	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:154569319G>C	ENST00000368474.4	-	6	2431	c.2232C>G	c.(2230-2232)ttC>ttG	p.F744L	ADAR_ENST00000292205.5_Missense_Mutation_p.F787L|ADAR_ENST00000368471.3_Missense_Mutation_p.F449L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	744	DRBM 3.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CGACCAACTTGAATTCAGCAG	0.562													9	71					0	0	0	0	C	154569319	G	C	154569319	3	2	504	1	0	0	0	0	1	0	0	0	281	1281	45	2	1488	2	ADAR	1	154569319	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	3078094	154569319	94681302	15	97409											
FCRL4	83417	broad.mit.edu	37	chr1	157551407	157551407	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtggctcccgcggcgAcaaggccatctctgttgcct	5	9	11	16	3	1	0	0	0	1	0	4	1	3	0	4	3	1	2	4	3	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:157551407A>T	ENST00000271532.1	-	7	1298	c.1163T>A	c.(1162-1164)gTc>gAc	p.V388D	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	388						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TCCCGCGGCGACAAGGCCATC	0.572													4	24					0	0	0	0	T	157551407	A	T	157551407	3	4	504	1	0	0	0	0	1	0	0	0	5842	275	10	5	408	5	FCRL4	1	157551407	Missense_Mutation	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	2982088	157551407	91699214	16	97410											
CD84	8832	broad.mit.edu	37	chr1	160535272	160535272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctttgtagtctcctgCgtcttccatcctcagatcgc	4	15	8	14	2	4	1	1	0	3	1	8	1	6	1	3	0	2	2	3	0	1	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:160535272C>T	ENST00000368054.3	-	2	345	c.310G>A	c.(310-312)Gca>Aca	p.A104T	CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.A104T|CD84_ENST00000311224.4_Missense_Mutation_p.A104T|CD84_ENST00000368051.3_Missense_Mutation_p.A104T	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	104					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.A104T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAGTCTCCTGCGTCTTCCATC	0.468													65	222					0	0	0	0	T	160535272	C	T	160535272	3	4	504	1	0	0	0	0	1	0	0	0	3071	768	27	1	755	1	CD84	1	160535272	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	2983865	160535272	88715349	17	97411											
CEP350	9857	broad.mit.edu	37	chr1	180044257	180044257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaagaagcagaaattCgtcaaatggaaaaacaagct	20	6	9	6	1	1	3	1	0	0	3	2	4	1	4	0	1	4	3	0	1	7	1	rs148196085	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:180044257C>A	ENST00000367607.3	+	28	6086	c.5668C>A	c.(5668-5670)Cgt>Agt	p.R1890S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1890						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCAGAAATTCGTCAAATGGA	0.438													7	23					0.0381472	0.0383103	1	0	A	180044257	C	A	180044257	3	1	504	1	0	0	0	0	1	0	0	0	3283	884	31	3	5774	3	CEP350	1	180044257	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	19508985	180044257	69206364	18	97412											
CEP350	9857	broad.mit.edu	37	chr1	180053305	180053305	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagccagtctgatcaagCagttagaggttagacatagg	15	8	12	6	0	2	4	1	1	1	3	2	4	2	4	1	2	2	3	1	2	6	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:180053305C>T	ENST00000367607.3	+	31	6695	c.6277C>T	c.(6277-6279)Cag>Tag	p.Q2093*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2093						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTGATCAAGCAGTTAGAGGT	0.373													3	10					0	0	0	0	T	180053305	C	T	180053305	4	4	504	1	0	0	0	0	0	1	0	0	3283	711	25	4	6395	4	CEP350	1	180053305	Nonsense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	9048	180053305	69197316	19	97413											
HMCN1	83872	broad.mit.edu	37	chr1	186106782	186106782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttggaaatgcgaaactgtCaaaataagccttgtccaggt	14	11	9	7	1	1	0	1	0	0	0	2	2	2	1	2	2	3	0	2	2	5	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:186106782C>G	ENST00000271588.4	+	88	13964	c.13735C>G	c.(13735-13737)Caa>Gaa	p.Q4579E	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q4579E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4579	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCGAAACTGTCAAAATAAGCC	0.458													9	48					0	0	0	0	G	186106782	C	G	186106782	3	3	504	1	0	0	0	0	1	0	0	0	7270	827	29	2	14085	2	HMCN1	1	186106782	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	6053477	186106782	63143839	20	97414											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438850	204438850	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactccatctgcagggcttcGgccatcgctagctctttgcg	5	12	10	14	3	2	0	0	0	2	0	5	0	3	0	2	2	4	4	2	2	2	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:204438850G>A	ENST00000367187.3	-	3	637	c.81C>T	c.(79-81)gcC>gcT	p.A27A	PIK3C2B_ENST00000424712.2_Silent_p.A27A	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	27	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCAGGGCTTCGGCCATCGCTA	0.597													14	60					0	0	0	0	A	204438850	G	A	204438850	2	1	504	1	0	0	0	0	0	0	0	1	11982	1103	39	1		1	PIK3C2B	1	204438850	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	18332068	204438850	44811771	21	97415											
KCTD3	51133	broad.mit.edu	37	chr1	215777532	215777532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctggagcagtacgagtGattgtacaacacccagagac	13	7	11	10	1	1	2	0	1	1	1	1	5	1	3	1	1	5	4	1	1	3	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:215777532G>A	ENST00000259154.4	+	13	1491	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	399						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			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)		CAGTACGAGTGATTGTACAAC	0.458													17	79					0	0	0	0	A	215777532	G	A	215777532	2	1	504	1	0	0	0	0	0	0	0	1	8163	1277	45	2		2	KCTD3	1	215777532	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	11338682	215777532	33473089	22	97416											
TP53BP2	7159	broad.mit.edu	37	chr1	223983857	223983857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccacatgtaaatatggaTtctggatttctactgggctt	9	15	9	8	0	2	0	0	0	2	0	3	2	3	2	1	3	1	3	1	3	4	6			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:223983857T>C	ENST00000391878.2	-	14	2765	c.1997A>G	c.(1996-1998)aAt>aGt	p.N666S	TP53BP2_ENST00000343537.7_Missense_Mutation_p.N795S|TP53BP2_ENST00000391879.2_Missense_Mutation_p.N28S|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	789					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TAAATATGGATTCTGGATTTC	0.512													22	105					0	0	0	0	C	223983857	T	C	223983857	3	2	504	1	0	0	0	0	1	0	0	0	16479	1493	52	5	1044	5	TP53BP2	1	223983857	Missense_Mutation	SNP	T	TCGA-UF-A7JO-01A-11D-A34J-08	8206325	223983857	25266764	23	97417											
OBSCN	84033	broad.mit.edu	37	chr1	228402696	228402696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctacacctgagctgacCgtggctgatgtggcggagga	7	8	17	9	2	0	3	0	3	0	0	0	5	0	5	2	5	2	3	2	5	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:228402696C>T	ENST00000570156.2	+	5	1799	c.1725C>T	c.(1723-1725)acC>acT	p.T575T	OBSCN_ENST00000284548.11_Silent_p.T575T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.T575T|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	575	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGCTGACCGTGGCTGATG	0.587													11	25					0	0	0	0	T	228402696	C	T	228402696	2	4	504	1	0	0	0	0	0	0	0	1	10883	639	23	1		1	OBSCN	1	228402696	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	4418839	228402696	20847925	24	97418											
FMN2	56776	broad.mit.edu	37	chr1	240371619	240371619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacctccccctctaccCggagcgggcataccccctcc	5	5	6	25	2	1	0	0	0	1	0	3	1	3	1	9	2	3	1	9	2	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:240371619C>T	ENST00000319653.9	+	5	3737	c.3507C>T	c.(3505-3507)ccC>ccT	p.P1169P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1169	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGCGGGCA	0.692													3	13					0	0	0	0	T	240371619	C	T	240371619	2	4	504	1	0	0	0	0	0	0	0	1	5995	639	23	1		1	FMN2	1	240371619	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	11968923	240371619	8879002	25	97419											
C1orf101	257044	broad.mit.edu	37	chr1	244681979	244681979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagaaaagtttattcttCaaatgagaaaatgagaaggg	19	9	11	2	0	2	3	1	2	1	3	2	7	2	3	0	1	0	1	0	1	8	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:244681979C>T	ENST00000366534.4	+	8	569	c.515C>T	c.(514-516)tCa>tTa	p.S172L	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.S172L|C1orf101_ENST00000366531.3_Missense_Mutation_p.S21L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	172						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTTTATTCTTCAAATGAGAAA	0.294													10	62					0	0	0	0	T	244681979	C	T	244681979	3	4	504	1	0	0	0	0	1	0	0	0	1995	838	29	2	545	2	C1orf101	1	244681979	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	4310360	244681979	4568642	26	97420											
OR2C3	81472	broad.mit.edu	37	chr1	247694861	247694861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagtctctaaatttgcGccagcttgcctgcagagcca	9	10	10	12	1	1	1	0	0	1	1	2	2	1	2	3	1	5	2	3	1	2	3	rs147306837		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:247694861G>A	ENST00000366487.3	-	2	1314	c.953C>T	c.(952-954)gCg>gTg	p.A318V	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A317V(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTAAATTTGCGCCAGCTTGCC	0.512													17	67					0	0	0	0	A	247694861	G	A	247694861	3	1	504	1	0	0	0	0	1	0	0	0	11064	1087	38	1	13	1	OR2C3	1	247694861	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	3012882	247694861	1555760	27	97421											
AGBL5	60509	broad.mit.edu	37	chr2	27278919	27278919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccccccaaagagagtggCgttgcttactatgtggacct	9	10	10	12	1	0	1	0	0	0	1	1	3	1	2	4	2	2	2	4	2	3	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:27278919C>T	ENST00000360131.4	+	7	1437	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	AGBL5_ENST00000323064.8_Silent_p.G426G	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	426					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGAGTGGCGTTGCTTACT	0.522													54	204					0	0	0	0	T	27278919	C	T	27278919	2	4	504	1	0	0	0	0	0	0	0	1	378	755	27	1		1	AGBL5	2	27278919	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08		27278919	215920454	28	97422											
XDH	7498	broad.mit.edu	37	chr2	31621561	31621561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccgtggcttttggcaattCtctcctaaaagatacagatg	11	12	9	9	1	1	2	0	0	1	2	3	2	2	2	2	2	2	2	2	2	4	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:31621561C>G	ENST00000379416.3	-	5	359	c.311G>C	c.(310-312)aGa>aCa	p.R104T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	104					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTTGGCAATTCTCTCCTAAAA	0.557													29	117					0	0	0	0	G	31621561	C	G	31621561	3	3	504	1	0	0	0	0	1	0	0	0	17522	913	32	2	3818	2	XDH	2	31621561	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	4342642	31621561	211577812	29	97423											
NLRC4	58484	broad.mit.edu	37	chr2	32474719	32474719	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaatactcaaggttttCaggtttgttacagatgtgat	11	16	9	5	0	3	3	3	2	0	1	3	3	3	3	0	2	2	3	0	2	4	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:32474719C>A	ENST00000404025.2	-	5	2702	c.2214G>T	c.(2212-2214)ctG>ctT	p.L738L	NLRC4_ENST00000402280.1_Silent_p.L738L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.L738L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	738					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCAAGGTTTTCAGGTTTGTTA	0.408													37	309					2.05212e-20	2.24301e-20	1	0	A	32474719	C	A	32474719	2	1	504	1	0	0	0	0	0	0	0	1	10539	813	29	2		2	NLRC4	2	32474719	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	853158	32474719	210724654	30	97424											
DCTN1	1639	broad.mit.edu	37	chr2	74597184	74597184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccatctcctcagcacccaGagcagcatccacctgtgtta	10	8	6	17	0	2	1	1	0	1	1	4	1	3	1	5	0	3	4	5	0	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:74597184G>A	ENST00000361874.3	-	13	1617	c.1300C>T	c.(1300-1302)Ctg>Ttg	p.L434L	DCTN1_ENST00000394003.3_Silent_p.L427L|DCTN1_ENST00000409567.3_Silent_p.L414L|DCTN1_ENST00000409438.1_Silent_p.L300L|DCTN1_ENST00000409240.1_Silent_p.L397L|DCTN1_ENST00000409868.1_Silent_p.L417L|DCTN1_ENST00000407639.2_Silent_p.L300L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	434					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.L434V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCAGCACCCAGAGCAGCATCC	0.542													25	89					0	0	0	0	A	74597184	G	A	74597184	2	1	504	1	0	0	0	0	0	0	0	1	4338	933	33	2		2	DCTN1	2	74597184	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	42122465	74597184	168602189	31	97425											
CTNNA2	1496	broad.mit.edu	37	chr2	80136803	80136803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctggagagcatcatcagCggcgcagcgctgatggccga	9	5	16	11	4	2	2	2	1	0	1	2	4	2	2	1	4	3	4	1	4	0	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:80136803C>T	ENST00000466387.1	+	11	1660	c.936C>T	c.(934-936)agC>agT	p.S312S	CTNNA2_ENST00000540488.1_Silent_p.S312S|CTNNA2_ENST00000541047.1_Silent_p.S312S|CTNNA2_ENST00000402739.4_Silent_p.S312S|CTNNA2_ENST00000361291.4_Silent_p.S346S|CTNNA2_ENST00000496558.1_Silent_p.S312S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	312					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCATCATCAGCGGCGCAGCGC	0.642													18	77					0	0	0	0	T	80136803	C	T	80136803	2	4	504	1	0	0	0	0	0	0	0	1	4045	767	27	1		1	CTNNA2	2	80136803	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	5539619	80136803	163062570	32	97426											
CNGA3	1261	broad.mit.edu	37	chr2	99006124	99006124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtgtgggtttccaggaaGaagacgaaaaagaaggatgc	15	8	14	4	1	0	3	0	0	0	3	1	6	1	5	1	3	1	1	1	3	6	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:99006124G>C	ENST00000393504.1	+	6	870	c.453G>C	c.(451-453)aaG>aaC	p.K151N	CNGA3_ENST00000272602.2_Missense_Mutation_p.K151N|CNGA3_ENST00000409937.1_Missense_Mutation_p.K155N|CNGA3_ENST00000436404.2_Missense_Mutation_p.K133N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	151					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTCCAGGAAGAAGACGAAAA	0.527													24	242					0	0	0	0	C	99006124	G	C	99006124	3	2	504	1	0	0	0	0	1	0	0	0	3628	933	33	2	471	2	CNGA3	2	99006124	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	18869321	99006124	144193249	33	97427											
UNC50	25972	broad.mit.edu	37	chr2	99226346	99226346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagaaggcttttccgctttCggcaaatggactttgaattt	9	15	10	7	2	0	2	0	2	0	1	2	4	1	3	1	3	0	3	1	3	3	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:99226346C>T	ENST00000409975.1	+	1	1305	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	UNC50_ENST00000409347.1_Missense_Mutation_p.R59W|UNC50_ENST00000357765.2_Missense_Mutation_p.R42W			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	42					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTCCGCTTTCGGCAAATGGA	0.473													8	174					0	0	0	0	T	99226346	C	T	99226346	3	4	504	1	0	0	0	0	1	0	0	0	17086	875	31	1	126	1	UNC50	2	99226346	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	220222	99226346	143973027	34	97428											
CHN1	1123	broad.mit.edu	37	chr2	175689187	175689187	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttcactccctgagcaatGagaccccacataaagttggc	12	9	7	13	0	1	2	1	2	0	1	2	3	2	2	3	1	1	2	3	1	3	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:175689187G>C	ENST00000409900.3	-	8	1000	c.687C>G	c.(685-687)ctC>ctG	p.L229L	CHN1_ENST00000295497.7_Silent_p.L104L|CHN1_ENST00000409156.3_Silent_p.L203L|CHN1_ENST00000409597.1_Silent_p.L45L|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	229					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCTGAGCAATGAGACCCCACA	0.453			T	TAF15	extraskeletal myxoid chondrosarcoma								4	23					0	0	0	0	C	175689187	G	C	175689187	2	2	504	1	0	0	0	0	0	0	0	1	3391	1277	45	2		2	CHN1	2	175689187	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	76462841	175689187	67510186	35	97429											
TTN	7273	broad.mit.edu	37	chr2	179623873	179623873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatggcttgattttcttgtCtttgctgtaccacgacactt	7	17	8	9	1	2	2	0	1	2	1	2	3	2	2	1	1	2	3	1	1	1	7			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:179623873C>G	ENST00000589042.1	-	44	10365	c.10141G>C	c.(10141-10143)Gac>Cac	p.D3381H	TTN_ENST00000342992.6_Missense_Mutation_p.D3381H|TTN_ENST00000460472.2_Missense_Mutation_p.D3335H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3381H|TTN_ENST00000342175.6_Missense_Mutation_p.D3335H|TTN_ENST00000359218.5_Missense_Mutation_p.D3335H|TTN_ENST00000591111.1_Missense_Mutation_p.D3381H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3094	Ig-like 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCTTGTCTTTGCTGTAC	0.363													21	100					0	0	0	0	G	179623873	C	G	179623873	3	3	504	1	0	0	0	0	1	0	0	0	16831	913	32	2	101123	2	TTN	2	179623873	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	3934686	179623873	63575500	36	97430											
CASP8	841	broad.mit.edu	37	chr2	202131358	202131359	+	Frame_Shift_Del	DEL	AA	AA	-																															gttattccagagactccaggAaaagagaatgttggaggaaa																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:202131358_202131359delAA	ENST00000358485.4	+	2	522_523	c.326_327delAA	c.(325-327)gfs	p.E109fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.E50fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.E50fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.E50fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.E50fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	50	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGACTCCAGGAAAAGAGAATGT	0.46										HNSCC(4;0.00038)			16	48	---	---	---	---					-	202131359	AA	-	202131358	7	5	504	1	0	1	0	1	0	0	0	0	2702	246	9	0	332	0	CASP8	2	202131358	Frame_Shift_Del	DEL	AA	TCGA-UF-A7JO-01A-11D-A34J-08	22507485	202131358	41068015	37	97431											
MAP2	4133	broad.mit.edu	37	chr2	210561334	210561334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagaaagctgaaaaggaaGctcggagatcatctcttgag	15	7	13	6	1	2	4	1	2	1	2	4	7	2	5	0	3	2	2	0	3	4	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:210561334G>C	ENST00000360351.4	+	8	4755	c.4249G>C	c.(4249-4251)Gct>Cct	p.A1417P	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.A1413P|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1417					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAAAAGGAAGCTCGGAGATC	0.388													7	93					0	0	0	0	C	210561334	G	C	210561334	3	2	504	1	0	0	0	0	1	0	0	0	9304	971	34	4	4267	4	MAP2	2	210561334	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	8429976	210561334	32638039	38	97432											
DIS3L2	129563	broad.mit.edu	37	chr2	233028272	233028272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatttctcttcagaagttCtagaatgtcttcctcaaggc	9	15	7	10	0	5	3	2	1	3	2	7	3	6	3	1	1	0	1	1	1	4	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:233028272C>G	ENST00000325385.7	+	9	1330	c.1054C>G	c.(1054-1056)Cta>Gta	p.L352V	DIS3L2_ENST00000273009.6_Missense_Mutation_p.L352V|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L352V	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	352							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTCAGAAGTTCTAGAATGTCT	0.453													9	40					0	0	0	0	G	233028272	C	G	233028272	3	3	504	1	0	0	0	0	1	0	0	0	4574	912	32	2	1084	2	DIS3L2	2	233028272	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	22466938	233028272	10171101	39	97433											
COL6A3	1293	broad.mit.edu	37	chr2	238245116	238245116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttcgtcgtagtcaccGgcttcgttgtcgtcactggg	3	12	13	13	6	2	0	2	0	0	0	6	0	2	0	2	3	0	4	2	3	1	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:238245116G>A	ENST00000295550.4	-	40	9079	c.8627C>T	c.(8626-8628)cCg>cTg	p.P2876L	COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2876	Nonhelical region.|Thr-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTAGTCACCGGCTTCGTTGT	0.448													58	143					0	0	0	0	A	238245116	G	A	238245116	3	1	504	1	0	0	0	0	1	0	0	0	3731	1116	39	1	926	1	COL6A3	2	238245116	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	5216844	238245116	4954257	40	97434											
KIF1A	547	broad.mit.edu	37	chr2	241659322	241659322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgggctctgggctggctggCcgggagcagggctgcggggt	2	7	22	10	3	1	0	0	0	1	0	2	1	1	1	1	8	2	5	1	8	0	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:241659322C>T	ENST00000498729.2	-	46	5136	c.4890G>A	c.(4888-4890)cgG>cgA	p.R1630R	KIF1A_ENST00000320389.7_Silent_p.R1529R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1529	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCTGGCTGGCCGGGAGCAGG	0.706													4	33					0	0	0	0	T	241659322	C	T	241659322	2	4	504	1	0	0	0	0	0	0	0	1	8334	726	26	4		4	KIF1A	2	241659322	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	3414206	241659322	1540051	41	97435											
C2orf54	79919	broad.mit.edu	37	chr2	241835205	241835205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcagaggagcgcagggcGaactggaaggcctccaggcc	9	4	15	13	2	1	1	1	0	0	1	3	4	3	3	4	5	2	1	4	5	2	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:241835205G>A	ENST00000388934.4	-	1	368	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	70										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGCGCAGGGCGAACTGGAAGG	0.657													10	30					0	0	0	0	A	241835205	G	A	241835205	2	1	504	1	0	0	0	0	0	0	0	1	2195	1049	37	1		1	C2orf54	2	241835205	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	175883	241835205	1364168	42	97436											
SEC13	6396	broad.mit.edu	37	chr3	10357041	10357041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaggatctgccctccattgCgcacatcaaagattttgacg	11	11	8	11	2	2	2	1	1	1	1	3	3	3	3	2	1	2	1	2	1	2	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:10357041C>T	ENST00000397117.1	-	3	677	c.86G>A	c.(85-87)cGc>cAc	p.R29H	SEC13_ENST00000397109.3_Missense_Mutation_p.R29H|SEC13_ENST00000337354.4_Missense_Mutation_p.R46H|SEC13_ENST00000383801.2_Missense_Mutation_p.R89H|SEC13_ENST00000350697.3_Missense_Mutation_p.R43H			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	43					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.R43H(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CCCTCCATTGCGCACATCAAA	0.592													9	33					0	0	0	0	T	10357041	C	T	10357041	3	4	504	1	0	0	0	0	1	0	0	0	14067	768	27	1	868	1	SEC13	3	10357041	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08		10357041	187665389	43	97437											
C3orf20	84077	broad.mit.edu	37	chr3	14798948	14798948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagactgcccgctggtgctgCggaagctcatgctcaaggaa	9	7	13	12	2	2	1	2	0	0	1	2	3	2	3	1	3	5	4	1	3	3	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:14798948C>T	ENST00000253697.3	+	13	2463	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	C3orf20_ENST00000435614.1_Missense_Mutation_p.R549W|C3orf20_ENST00000412910.1_Missense_Mutation_p.R549W	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	671						cytoplasm|integral to membrane		p.R671W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTGGTGCTGCGGAAGCTCAT	0.682													12	51					0	0	0	0	T	14798948	C	T	14798948	3	4	504	1	0	0	0	0	1	0	0	0	2233	759	27	1	2053	1	C3orf20	3	14798948	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	4441907	14798948	183223482	44	97438											
ACVR2B	93	broad.mit.edu	37	chr3	38524631	38524631	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccctatgctgcttagggCctggcccagctttgtgtgac	4	12	12	13	0	0	1	0	1	0	0	0	1	0	1	3	2	4	3	3	2	2	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:38524631C>T	ENST00000352511.3	+	11	1819	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	449	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CTGCTTAGGGCCTGGCCCAGC	0.557													5	187					0	0	0	0	T	38524631	C	T	38524631	2	4	504	1	0	0	0	0	0	0	0	1	224	726	26	4		4	ACVR2B	3	38524631	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	23725683	38524631	159497799	45	97439											
KIAA1143	57456	broad.mit.edu	37	chr3	44795848	44795848	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatcttcatctgggggctGaggctgaattctctagggaa	8	11	12	10	0	4	2	1	2	3	0	5	3	4	3	1	4	0	2	1	4	3	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:44795848G>A	ENST00000296121.4	-	2	180	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	41								p.Q41K(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTGGGGGCTGAGGCTGAATT	0.408													8	106					0	0	0	0	A	44795848	G	A	44795848	4	1	504	1	0	0	0	0	0	1	0	0	8260	1299	45	2	351	2	KIAA1143	3	44795848	Nonsense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	6271217	44795848	153226582	46	97440											
GPX1	2876	broad.mit.edu	37	chr3	49394958	49394958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaaagttccaggcaacatCgttgcgacacaccggagacc	12	6	9	14	3	1	1	1	0	0	1	3	3	2	1	3	2	2	3	3	2	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:49394958C>T	ENST00000419783.1	-	2	796	c.475G>A	c.(475-477)Gat>Aat	p.D159N	GPX1_ENST00000419349.1_3'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	159					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CAGGCAACATCGTTGCGACAC	0.627													12	48					0	0	0	0	T	49394958	C	T	49394958	3	4	504	1	0	0	0	0	1	0	0	0	6789	884	31	1	140	1	GPX1	3	49394958	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	4599110	49394958	148627472	47	97441											
PRKCD	5580	broad.mit.edu	37	chr3	53215501	53215501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaggacgaggccaagttcCcaacgatgaaccgccgcgga	11	4	14	12	5	0	2	0	2	0	0	1	6	1	4	4	3	2	1	4	3	3	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:53215501C>T	ENST00000394729.2	+	5	746	c.418C>T	c.(418-420)Cca>Tca	p.P140S	PRKCD_ENST00000330452.3_Missense_Mutation_p.P140S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	140					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GGCCAAGTTCCCAACGATGAA	0.537													9	39					0	0	0	0	T	53215501	C	T	53215501	3	4	504	1	0	0	0	0	1	0	0	0	12589	623	22	4	432	4	PRKCD	3	53215501	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	3820543	53215501	144806929	48	97442											
PLXNA1	5361	broad.mit.edu	37	chr3	126751384	126751385	+	In_Frame_Ins	INS	-	-	CCT																															caagctgggcaaggactcacINScctccaacaagctgctctac																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:126751384_126751385insCCT	ENST00000251772.4	+	29	5386_5387	c.5317_5318insCCT	c.(5317-5319)ctc>CCTctc	p.1773_1774insP	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_In_Frame_Ins_p.1796_1797insP			Q9UIW2	PLXA1_HUMAN	plexin A1	1796					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAAGGACTCACCCTCCAACAAG	0.624													22	81	---	---	---	---					CCT	126751385	-	CCT	126751384	7	5	504	1	0	1	1	0	0	0	0	0	12191	507	18	0	5500	0	PLXNA1	3	126751384	In_Frame_Ins	INS	-	TCGA-UF-A7JO-01A-11D-A34J-08	73535883	126751384	71271046	49	97443											
ASTE1	28990	broad.mit.edu	37	chr3	130743867	130743867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggatcttctctctagctCtatcctttaaagttgtaagc	8	17	6	10	0	5	0	0	0	5	0	7	1	6	1	1	1	2	3	1	1	5	7			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:130743867C>G	ENST00000264992.3	-	3	725	c.284G>C	c.(283-285)aGa>aCa	p.R95T	ASTE1_ENST00000514044.1_Missense_Mutation_p.R95T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	95					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CTCTCTAGCTCTATCCTTTAA	0.393													4	73					0	0	0	0	G	130743867	C	G	130743867	3	3	504	1	0	0	0	0	1	0	0	0	1066	913	32	2	1771	2	ASTE1	3	130743867	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	3992483	130743867	67278563	50	97444											
ATR	545	broad.mit.edu	37	chr3	142285059	142285059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaatcaagcaacatcaCggaggttggctgagagtcag	14	7	13	7	1	3	2	3	2	0	1	3	5	3	3	0	3	2	3	0	3	3	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:142285059C>T	ENST00000350721.4	-	3	317	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	ATR_ENST00000383101.3_Missense_Mutation_p.V66M	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	66					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			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						AGCAACATCACGGAGGTTGGC	0.373								Other conserved DNA damage response genes					15	79					0	0	0	0	T	142285059	C	T	142285059	3	4	504	1	0	0	0	0	1	0	0	0	1208	536	19	1	7918	1	ATR	3	142285059	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	11541192	142285059	55737371	51	97445											
PLS1	5357	broad.mit.edu	37	chr3	142430410	142430410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcaccaaatgcagttcGtcaagaaatgatcaggagag	15	8	10	8	1	2	3	2	1	0	2	3	4	2	3	1	1	2	3	1	1	3	2	rs146341428		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:142430410G>A	ENST00000337777.3	+	15	1910	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H	PLS1_ENST00000457734.2_Missense_Mutation_p.R566H|PLS1_ENST00000497002.1_Missense_Mutation_p.R566H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	566	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AATGCAGTTCGTCAAGAAATG	0.333													18	79					0	0	0	0	A	142430410	G	A	142430410	3	1	504	1	0	0	0	0	1	0	0	0	12179	1145	40	1	1751	1	PLS1	3	142430410	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	145351	142430410	55592020	52	97446											
AGTR1	185	broad.mit.edu	37	chr3	148458871	148458871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattaaaagaatccaagatGattgtcccaaagctggaagg	16	9	10	6	0	0	3	0	1	0	2	2	4	2	4	2	2	1	2	2	2	7	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:148458871G>A	ENST00000542281.1	+	4	495	c.49G>A	c.(49-51)Gat>Aat	p.D17N	AGTR1_ENST00000475347.1_Missense_Mutation_p.D17N|AGTR1_ENST00000418473.2_Missense_Mutation_p.D17N|AGTR1_ENST00000474935.1_Missense_Mutation_p.D17N|AGTR1_ENST00000497524.1_Missense_Mutation_p.D17N|AGTR1_ENST00000404754.2_Missense_Mutation_p.D17N|AGTR1_ENST00000402260.1_Missense_Mutation_p.D17N|AGTR1_ENST00000349243.3_Missense_Mutation_p.D17N|AGTR1_ENST00000461609.1_Missense_Mutation_p.D17N	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	17					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AATCCAAGATGATTGTCCCAA	0.368													17	70					0	0	0	0	A	148458871	G	A	148458871	3	1	504	1	0	0	0	0	1	0	0	0	401	1290	45	2	51	2	AGTR1	3	148458871	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	6028461	148458871	49563559	53	97447											
GPR149	344758	broad.mit.edu	37	chr3	154146790	154146790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgggactgagaggcccacGaggagtccgaaggccaaagc	12	3	16	10	2	0	1	0	1	0	1	1	6	1	3	3	4	1	0	3	4	2	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:154146790G>A	ENST00000389740.2	-	1	714	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	205						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGAGGCCCACGAGGAGTCCGA	0.602													28	93					0	0	0	0	A	154146790	G	A	154146790	2	1	504	1	0	0	0	0	0	0	0	1	6703	1045	37	1		1	GPR149	3	154146790	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	5687919	154146790	43875640	54	97448											
TIPARP	25976	broad.mit.edu	37	chr3	156411951	156411951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattcttctgtagggacCactttggatggagagagtat	11	12	13	5	0	2	1	0	0	2	1	2	6	2	5	1	4	0	2	1	4	3	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:156411951C>T	ENST00000461166.1	+	3	1648	c.1060C>T	c.(1060-1062)Cac>Tac	p.H354Y	TIPARP_ENST00000295924.7_Missense_Mutation_p.H354Y|TIPARP_ENST00000486483.1_Missense_Mutation_p.H354Y|TIPARP_ENST00000542783.1_Missense_Mutation_p.H354Y	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	354	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGTAGGGACCACTTTGGATG	0.373													16	207					0	0	0	0	T	156411951	C	T	156411951	3	4	504	1	0	0	0	0	1	0	0	0	16018	594	21	4	1066	4	TIPARP	3	156411951	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	2265161	156411951	41610479	55	97449											
KPNA4	3840	broad.mit.edu	37	chr3	160231914	160231914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagattggcatcaattactGcctgtacctgctgctgattt	9	14	8	10	0	1	2	1	1	0	1	1	2	1	2	2	1	5	4	2	1	4	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:160231914G>A	ENST00000334256.4	-	13	1393	c.1088C>T	c.(1087-1089)gCa>gTa	p.A363V		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	363	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATCAATTACTGCCTGTACCTG	0.363													16	62					0	0	0	0	A	160231914	G	A	160231914	3	1	504	1	0	0	0	0	1	0	0	0	8484	1319	46	4	497	4	KPNA4	3	160231914	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	3819963	160231914	37790516	56	97450											
SLC2A2	6514	broad.mit.edu	37	chr3	170724960	170724960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaataagaatgcccgtgaCgatggccagctgatgaaaag	15	7	11	8	2	0	4	0	3	0	1	0	5	0	4	2	1	2	1	2	1	5	2	rs121909741		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:170724960C>T	ENST00000314251.3	-	5	668	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.V78I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	197			V -> I (in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes).		carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.V197I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATGCCCGTGACGATGGCCAGC	0.483													18	34					0	0	0	0	T	170724960	C	T	170724960	3	4	504	1	0	0	0	0	1	0	0	0	14632	536	19	1	1013	1	SLC2A2	3	170724960	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	10493046	170724960	27297470	57	97451											
PIK3CA	5290	broad.mit.edu	37	chr3	178947838	178947838	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcatgtgctggatacTgtgtagctaccttcattttg	7	16	9	9	1	2	0	2	0	0	0	2	1	2	1	1	1	4	4	1	1	3	7			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:178947838T>A	ENST00000263967.3	+	19	2870	c.2713T>A	c.(2713-2715)Tgt>Agt	p.C905S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	905	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGCTGGATACTGTGTAGCTAC	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			76	214					0	0	0	0	A	178947838	T	A	178947838	3	1	504	1	0	0	0	0	1	0	0	0	11985	1580	55	5	2783	5	PIK3CA	3	178947838	Missense_Mutation	SNP	T	TCGA-UF-A7JO-01A-11D-A34J-08	8222878	178947838	19074592	58	97452											
FETUB	26998	broad.mit.edu	37	chr3	186364068	186364068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttcttactttgtggaatActtaattaaagaatcaccat	13	15	4	9	0	2	1	1	0	1	1	2	2	2	2	2	1	2	0	2	1	7	6			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:186364068A>G	ENST00000265029.3	+	5	727	c.626A>G	c.(625-627)tAc>tGc	p.Y209C	RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.Y61C|FETUB_ENST00000382134.3_Missense_Mutation_p.Y144C|FETUB_ENST00000382136.3_Missense_Mutation_p.Y172C|FETUB_ENST00000450521.1_Missense_Mutation_p.Y209C	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	209	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TTTGTGGAATACTTAATTAAA	0.423													38	169					0	0	0	0	G	186364068	A	G	186364068	3	3	504	1	0	0	0	0	1	0	0	0	5866	391	14	5	644	5	FETUB	3	186364068	Missense_Mutation	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	7416230	186364068	11658362	59	97453											
TNK2	10188	broad.mit.edu	37	chr3	195595418	195595418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccgaagtcgatgagcGtgacctcagccccgctgcct	7	7	10	17	4	2	2	2	2	0	0	3	4	2	2	6	0	3	1	6	0	1	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:195595418G>A	ENST00000333602.6	-	12	2323	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	TNK2_ENST00000392400.1_Missense_Mutation_p.T569M|TNK2_ENST00000381916.2_Missense_Mutation_p.T647M|TNK2_ENST00000428187.1_Missense_Mutation_p.T601M	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	569				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTCGATGAGCGTGACCTCAGC	0.751													6	9					0	0	0	0	A	195595418	G	A	195595418	3	1	504	1	0	0	0	0	1	0	0	0	16412	1145	40	1	1426	1	TNK2	3	195595418	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	9231350	195595418	2427012	60	97454											
TACC3	10460	broad.mit.edu	37	chr4	1730384	1730384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaaacttcatcccgttcGgaggtgacaccaagtctggt	10	9	9	13	2	2	1	1	1	1	0	4	2	3	2	3	3	1	1	3	3	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:1730384G>A	ENST00000313288.4	+	4	1361	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	419						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CATCCCGTTCGGAGGTGACAC	0.627													20	93					0	0	0	0	A	1730384	G	A	1730384	3	1	504	1	0	0	0	0	1	0	0	0	15594	1117	39	1	1265	1	TACC3	4	1730384	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		1730384	189423892	61	97455											
NFKB1	4790	broad.mit.edu	37	chr4	103534694	103534694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgaagaccacctctcaggCccactcgctgcctctctcgc	7	8	8	18	2	2	2	1	1	2	1	6	2	2	2	4	1	1	1	4	1	1	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:103534694C>A	ENST00000226574.4	+	23	3172	c.2705C>A	c.(2704-2706)gCc>gAc	p.A902D	NFKB1_ENST00000394820.4_Missense_Mutation_p.A901D|NFKB1_ENST00000600343.1_Missense_Mutation_p.A721D|NFKB1_ENST00000505458.1_Missense_Mutation_p.A901D	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	901	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	ACCTCTCAGGCCCACTCGCTG	0.542													10	42					4.68919e-08	4.91946e-08	1	0	A	103534694	C	A	103534694	3	1	504	1	0	0	0	0	1	0	0	0	10445	739	26	4	2791	4	NFKB1	4	103534694	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	101804310	103534694	87619582	62	97456											
SCLT1	132320	broad.mit.edu	37	chr4	129924970	129924970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatatgtcagttcctacctCtgtgcccaggggaaaggcct	9	11	10	11	0	2	0	1	0	1	0	3	1	3	1	4	3	2	1	4	3	4	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:129924970C>G	ENST00000281142.5	-	6	855	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	SCLT1_ENST00000434680.1_Missense_Mutation_p.E118Q|SCLT1_ENST00000503215.1_Missense_Mutation_p.E95Q|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	118						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTTCCTACCTCTGTGCCCAGG	0.368													15	89					0	0	0	0	G	129924970	C	G	129924970	3	3	504	1	0	0	0	0	1	0	0	0	13993	922	32	2	1778	2	SCLT1	4	129924970	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	26390276	129924970	61229306	63	97457											
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								21	91					0	0	0	0	C	153247289	G	C	153247289	3	2	504	1	0	0	0	0	1	0	0	0	5814	1116	39	3	622	3	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	23322319	153247289	37906987	64	97458											
DDX60L	91351	broad.mit.edu	37	chr4	169336575	169336575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacaatatctgtcgttagcGcagcacagggatgaaaatga	14	10	10	7	2	1	2	0	2	1	0	2	3	1	3	0	1	3	3	0	1	6	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:169336575G>A	ENST00000511577.1	-	22	3210	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V	DDX60L_ENST00000505890.1_Missense_Mutation_p.A988V|DDX60L_ENST00000260184.7_Missense_Mutation_p.A988V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	988							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTCGTTAGCGCAGCACAGGG	0.343													17	38					0	0	0	0	A	169336575	G	A	169336575	3	1	504	1	0	0	0	0	1	0	0	0	4411	1087	38	1	2225	1	DDX60L	4	169336575	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	16089286	169336575	21817701	65	97459											
FAT1	2195	broad.mit.edu	37	chr4	187524602	187524602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacaaaaagtaagacgTccagatgtgggtgaggttca	13	10	11	7	1	2	3	1	1	1	2	4	3	3	3	1	2	1	2	1	2	4	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:187524602T>C	ENST00000441802.2	-	19	11287	c.11078A>G	c.(11077-11079)gAc>gGc	p.D3693G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3693					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAGTAAGACGTCCAGATGTGG	0.453										HNSCC(5;0.00058)			14	40					0	0	0	0	C	187524602	T	C	187524602	3	2	504	1	0	0	0	0	1	0	0	0	5734	1667	58	5	2724	5	FAT1	4	187524602	Missense_Mutation	SNP	T	TCGA-UF-A7JO-01A-11D-A34J-08	18188027	187524602	3629674	66	97460											
FAT1	2195	broad.mit.edu	37	chr4	187539265	187539266	+	Frame_Shift_Ins	INS	-	-	C																															tgatctgaattactctacttINSccccctggcaggttttcaac																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:187539265_187539266insC	ENST00000441802.2	-	10	8683_8684	c.8474_8475insG	c.(8473-8475)gagfs	p.E2825fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2825	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTACTCTACTTCCCCCTGGCAG	0.436										HNSCC(5;0.00058)			16	138	---	---	---	---					C	187539266	-	C	187539265	7	5	504	1	0	1	1	0	0	0	0	0	5734	1770	62	0	5363	0	FAT1	4	187539265	Frame_Shift_Ins	INS	-	TCGA-UF-A7JO-01A-11D-A34J-08	14663	187539265	3615011	67	97461											
FAT1	2195	broad.mit.edu	37	chr4	187630900	187630900	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcagaggagtctgttCaagtcgttggctgccatcac	10	10	11	10	1	3	1	2	0	1	1	4	2	3	2	1	2	3	4	1	2	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:187630900C>A	ENST00000441802.2	-	2	291	c.82G>T	c.(82-84)Gaa>Taa	p.E28*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	28					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGAGTCTGTTCAAGTCGTTGG	0.502										HNSCC(5;0.00058)			7	32					0.0293803	0.0296325	1	0	A	187630900	C	A	187630900	4	1	504	1	0	0	0	0	0	1	0	0	5734	835	29	2	13788	2	FAT1	4	187630900	Nonsense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	91635	187630900	3523376	68	97462											
TERT	7015	broad.mit.edu	37	chr5	1264618	1264618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgaacaaaagccgtgccaCccagggcctcgtcttctaca	10	8	8	15	2	3	1	0	1	3	0	4	1	3	1	4	1	4	0	4	1	4	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:1264618C>T	ENST00000310581.5	-	11	2801	c.2744G>A	c.(2743-2745)gGt>gAt	p.G915D	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	915	Required for oligomerization.|Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGCCGTGCCACCCAGGGCCTC	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				11	52					0	0	0	0	T	1264618	C	T	1264618	3	4	504	1	0	0	0	0	1	0	0	0	15858	507	18	4	678	4	TERT	5	1264618	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08		1264618	179650642	69	97463											
MED10	84246	broad.mit.edu	37	chr5	6374523	6374523	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtagagctggggatttcGaccttgatctatatatctgg	8	14	13	6	1	2	2	0	1	2	1	3	4	2	3	1	4	1	2	1	4	4	6			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:6374523G>T	ENST00000255764.3	-	3	333	c.223C>A	c.(223-225)Cga>Aga	p.R75R		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	75					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TGGGGATTTCGACCTTGATCT	0.423													9	120					1.05317e-09	1.11484e-09	1	0	T	6374523	G	T	6374523	2	4	504	1	0	0	0	0	0	0	0	1	9495	1066	37	3		3	MED10	5	6374523	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	5109905	6374523	174540737	70	97464											
ZFR	51663	broad.mit.edu	37	chr5	32390475	32390475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gataacctccatctggcattCggcggcgatcatcccaatga	10	9	9	13	3	2	1	1	1	1	0	5	3	4	1	3	3	1	1	3	3	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:32390475C>T	ENST00000265069.8	-	12	2150	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	683					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATCTGGCATTCGGCGGCGATC	0.507													27	73					0	0	0	0	T	32390475	C	T	32390475	3	4	504	1	0	0	0	0	1	0	0	0	17754	884	31	1	1212	1	ZFR	5	32390475	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	26015952	32390475	148524785	71	97465											
C5orf42	65250	broad.mit.edu	37	chr5	37187536	37187536	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttctgattggtggcagttCtccaataaggctcaaaatta	11	14	8	8	0	3	1	1	1	2	0	4	1	3	1	1	3	0	3	1	3	5	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:37187536C>G	ENST00000274258.7	-	23	4290	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	C5orf42_ENST00000508244.1_Missense_Mutation_p.E1354Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1354Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1354										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGTGGCAGTTCTCCAATAAGG	0.338													6	69					0	0	0	0	G	37187536	C	G	37187536	3	3	504	1	0	0	0	0	1	0	0	0	2322	922	32	2	5653	2	C5orf42	5	37187536	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	4797061	37187536	143727724	72	97466											
HMGCS1	3157	broad.mit.edu	37	chr5	43298225	43298225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatctcctgcaactaccaGggcataccgtcctgaaaaat	14	9	6	12	1	1	1	0	1	1	0	3	1	2	1	4	1	4	2	4	1	7	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:43298225G>A	ENST00000325110.6	-	4	666	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	HMGCS1_ENST00000433297.2_Silent_p.L154L	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	154					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GCAACTACCAGGGCATACCGT	0.403													14	54					0	0	0	0	A	43298225	G	A	43298225	2	1	504	1	0	0	0	0	0	0	0	1	7282	991	35	4		4	HMGCS1	5	43298225	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	6110689	43298225	137617035	73	97467											
POU5F2	134187	broad.mit.edu	37	chr5	93076292	93076292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccctcagccctaaaatctGaggaggcccagagtggtggc	9	6	13	13	0	2	2	1	1	1	1	2	3	2	3	4	4	1	0	4	4	2	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:93076292G>A	ENST00000510627.4	-	1	1051	c.978C>T	c.(976-978)ctC>ctT	p.L326L	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTAAAATCTGAGGAGGCCCA	0.582													5	46					0	0	0	0	A	93076292	G	A	93076292	2	1	504	1	0	0	0	0	0	0	0	1	12354	1277	45	2		2	POU5F2	5	93076292	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	49778067	93076292	87838968	74	97468											
CCDC112	153733	broad.mit.edu	37	chr5	114611171	114611171	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgttactttgtctacAggaactttgcttgagattgc	7	17	10	7	0	1	1	0	1	1	1	1	3	1	2	0	2	5	2	0	2	3	7			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:114611171A>T	ENST00000379611.5	-	6	947	c.660T>A	c.(658-660)ccT>ccA	p.P220P	CCDC112_ENST00000395557.4_Silent_p.P137P|CCDC112_ENST00000512261.1_Silent_p.P137P|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Silent_p.P137P	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	137										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTTGTCTACAGGAACTTTGC	0.403													42	142					0	0	0	0	T	114611171	A	T	114611171	2	4	504	1	0	0	0	0	0	0	0	1	2774	175	7	5		5	CCDC112	5	114611171	Silent	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	21534879	114611171	66304089	75	97469											
PCDHB3	56132	broad.mit.edu	37	chr5	140482233	140482233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctcctggtggacggcttctCccagccctacctgcctctcc	3	10	9	19	1	2	0	0	0	2	0	5	1	3	1	6	3	3	2	6	3	1	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:140482233C>G	ENST00000231130.2	+	1	2000	c.2000C>G	c.(1999-2001)tCc>tGc	p.S667C		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		667	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.692													16	138					0	0	0	0	G	140482233	C	G	140482233	3	3	504	1	0	0	0	0	1	0	0	0	11614	855	30	2	2002	2	PCDHB3	5	140482233	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	25871062	140482233	40433027	76	97470											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857005	140857005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttccctctcagcccttaCaatagtgcgtgttcaagtgt	7	13	7	14	1	2	0	2	0	1	0	4	0	3	0	3	0	3	1	3	0	4	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:140857005C>G	ENST00000308177.3	+	1	1426	c.1322C>G	c.(1321-1323)aCa>aGa	p.T441R	PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCCCTTACAATAGTGCGT	0.517													13	85					0	0	0	0	G	140857005	C	G	140857005	3	3	504	1	0	0	0	0	1	0	0	0	11640	478	17	4	1324	4	PCDHGC3	5	140857005	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	374772	140857005	40058255	77	97471											
GRIA1	2890	broad.mit.edu	37	chr5	153190726	153190726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacttccccaagtccatgCaatcgattccttgcatgagc	10	11	7	13	1	0	2	0	2	0	0	4	3	3	2	4	0	3	2	4	0	2	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:153190726C>A	ENST00000285900.5	+	16	3005	c.2662C>A	c.(2662-2664)Caa>Aaa	p.Q888K	GRIA1_ENST00000521843.2_Missense_Mutation_p.Q819K|GRIA1_ENST00000448073.4_Missense_Mutation_p.Q898K|GRIA1_ENST00000518783.1_Missense_Mutation_p.Q898K|GRIA1_ENST00000518142.1_Missense_Mutation_p.Q808K|GRIA1_ENST00000340592.5_Missense_Mutation_p.Q888K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	888					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAGTCCATGCAATCGATTCC	0.627													15	50					2.61681e-11	2.82088e-11	1	0	A	153190726	C	A	153190726	3	1	504	1	0	0	0	0	1	0	0	0	6817	711	25	4	2843	4	GRIA1	5	153190726	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	12333721	153190726	27724534	78	97472											
FLT4	2324	broad.mit.edu	37	chr5	180043378	180043378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcactcacactgcccttgcGgacgtagtcggggtctttgt	5	12	12	12	3	2	0	1	0	1	0	3	1	2	1	1	3	3	2	1	3	1	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:180043378G>A	ENST00000261937.6	-	23	3286	c.3208C>T	c.(3208-3210)Cgc>Tgc	p.R1070C	FLT4_ENST00000502649.1_Missense_Mutation_p.R1070C|FLT4_ENST00000393347.3_Missense_Mutation_p.R1070C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1070	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCCCTTGCGGACGTAGTCG	0.602													10	52					0	0	0	0	A	180043378	G	A	180043378	3	1	504	1	0	0	0	0	1	0	0	0	5989	1116	39	1	923	1	FLT4	5	180043378	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	26852652	180043378	871882	79	97473											
NUP153	9972	broad.mit.edu	37	chr6	17616845	17616845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgtgctagaatttGcaccaaatgtgaacactcct	11	11	9	10	0	0	2	0	1	0	1	1	2	1	2	2	1	4	3	2	1	4	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:17616845G>T	ENST00000262077.2	-	21	4255	c.4256C>A	c.(4255-4257)gCa>gAa	p.A1419E	NUP153_ENST00000537253.1_Missense_Mutation_p.A1450E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1419					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTAGAATTTGCACCAAATGT	0.473													9	90					9.70103e-10	1.03156e-09	1	0	T	17616845	G	T	17616845	3	4	504	1	0	0	0	0	1	0	0	0	10826	1319	46	4	179	4	NUP153	6	17616845	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		17616845	153498222	80	97474											
HLA-B	3106	broad.mit.edu	37	chr6	31323353	31323354	+	Frame_Shift_Del	DEL	GT	GT	-																															gagatggggtggtgggtcacGtgtgtctttggggggtctga																								rs45610732	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:31323353_31323354delGT	ENST00000412585.2	-	4	663_664	c.635_636delAC	c.(634-636)cfs	p.H212fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGTGGGTCACGTGTGTCTTTGG	0.589									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				93	113	---	---	---	---					-	31323354	GT	-	31323353	7	5	504	1	0	1	0	1	0	0	0	0	7246	1136	40	0	468	0	HLA-B	6	31323353	Frame_Shift_Del	DEL	GT	TCGA-UF-A7JO-01A-11D-A34J-08	13706508	31323353	139791714	81	97475											
LTB	4050	broad.mit.edu	37	chr6	31548884	31548884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactgcgtcccgctcgtcaGaaacgcctgttccttcgtcg	6	10	10	15	6	1	1	1	0	0	1	6	2	3	1	3	0	3	2	3	0	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:31548884G>A	ENST00000429299.2	-	4	344	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	113					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCGCTCGTCAGAAACGCCTGT	0.682													22	27					0	0	0	0	A	31548884	G	A	31548884	2	1	504	1	0	0	0	0	0	0	0	1	9134	933	33	2		2	LTB	6	31548884	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	225531	31548884	139566183	82	97476											
RING1	6015	broad.mit.edu	37	chr6	33176605	33176605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcgcccggtcaccatgacGacgccggcgaatgcccagaa	9	4	12	16	6	1	2	1	1	0	1	1	4	1	2	4	2	2	0	4	2	2	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:33176605G>A	ENST00000374656.4	+	2	214	c.6G>A	c.(4-6)acG>acA	p.T2T		NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	2					histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TCACCATGACGACGCCGGCGA	0.652													4	26					0	0	0	0	A	33176605	G	A	33176605	2	1	504	1	0	0	0	0	0	0	0	1	13459	1045	37	1		1	RING1	6	33176605	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	1627721	33176605	137938462	83	97477											
SYNGAP1	8831	broad.mit.edu	37	chr6	33391282	33391282	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccctctatgcaccgaacCcaatacgttcattccccgta	10	9	6	16	3	2	0	1	0	1	0	3	2	3	1	5	1	3	3	5	1	5	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:33391282C>T	ENST00000418600.2	+	2	197	c.96C>T	c.(94-96)acC>acT	p.T32T	SYNGAP1_ENST00000293748.5_Silent_p.T32T|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	32					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCACCGAACCCAATACGTTC	0.527													13	203					0	0	0	0	T	33391282	C	T	33391282	2	4	504	1	0	0	0	0	0	0	0	1	15538	610	22	4		4	SYNGAP1	6	33391282	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	214677	33391282	137723785	84	97478											
LRFN2	57497	broad.mit.edu	37	chr6	40360117	40360117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttggggcgcggggcGgagggtgggatcctccaggg	3	6	23	9	3	0	0	0	0	0	0	2	2	2	2	2	9	0	1	2	9	0	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:40360117G>A	ENST00000338305.6	-	3	2477	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	645						cell junction|integral to membrane|postsynaptic membrane		p.S645S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCGCGGGGCGGAGGGTGGGA	0.711													4	15					0	0	0	0	A	40360117	G	A	40360117	2	1	504	1	0	0	0	0	0	0	0	1	9002	1103	39	1		1	LRFN2	6	40360117	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	6968835	40360117	130754950	85	97479											
BAI3	577	broad.mit.edu	37	chr6	69666071	69666071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagagagtgctataaccctGaatgtacaggtagggcttga	12	9	13	7	0	0	3	0	2	0	1	0	4	0	3	1	2	3	5	1	2	5	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:69666071G>C	ENST00000370598.1	+	7	2172	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	451	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTATAACCCTGAATGTACAGG	0.512													12	32					0	0	0	0	C	69666071	G	C	69666071	3	2	504	1	0	0	0	0	1	0	0	0	1304	1291	45	2	1369	2	BAI3	6	69666071	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	29305954	69666071	101448996	86	97480											
FILIP1	27145	broad.mit.edu	37	chr6	76022129	76022129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccactgactgggttcctCgagcagatgacgttgtgacc	8	10	11	12	2	1	4	1	3	0	1	3	5	2	4	3	1	1	3	3	1	0	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:76022129C>T	ENST00000393004.2	-	5	3640	c.3419G>A	c.(3418-3420)cGa>cAa	p.R1140Q	FILIP1_ENST00000370020.1_Missense_Mutation_p.R1041Q|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1140Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1140										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTGGGTTCCTCGAGCAGATGA	0.562													31	153					0	0	0	0	T	76022129	C	T	76022129	3	4	504	1	0	0	0	0	1	0	0	0	5939	884	31	1	230	1	FILIP1	6	76022129	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	6356058	76022129	95092938	87	97481											
PRDM1	639	broad.mit.edu	37	chr6	106555311	106555311	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcccagcaacccactacctCtggtacctgtaaaggtcaaa	12	8	6	15	0	2	0	1	0	1	0	3	0	3	0	4	2	4	3	4	2	6	3	rs149770989		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:106555311C>G	ENST00000369096.4	+	7	2662	c.2428C>G	c.(2428-2430)Ctg>Gtg	p.L810V	PRDM1_ENST00000369089.3_Missense_Mutation_p.L676V|PRDM1_ENST00000369091.2_Missense_Mutation_p.L774V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	810					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCACTACCTCTGGTACCTGT	0.433			"D, N, Mis, F, S"		DLBCL								16	103					0	0	0	0	G	106555311	C	G	106555311	3	3	504	1	0	0	0	0	1	0	0	0	12530	912	32	2	2467	2	PRDM1	6	106555311	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	30533182	106555311	64559756	88	97482											
LPA	4018	broad.mit.edu	37	chr6	160969656	160969656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacaccaagggcctgtatcgGcatctggattcctgcagtag	10	9	11	11	1	1	0	0	0	1	0	3	1	2	1	3	3	2	4	3	3	4	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:160969656G>A	ENST00000447678.1	-	32	5129	c.5009C>T	c.(5008-5010)gCc>gTc	p.A1670V	LPA_ENST00000316300.5_Missense_Mutation_p.A1670V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4178	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCCTGTATCGGCATCTGGATT	0.522													19	98					0	0	0	0	A	160969656	G	A	160969656	3	1	504	1	0	0	0	0	1	0	0	0	8967	1203	42	4	1149	4	LPA	6	160969656	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	54414345	160969656	10145411	89	97483											
CCDC132	55610	broad.mit.edu	37	chr7	92926149	92926149	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttttggatataatcagcagGtagtatttaagatcttgtct	11	17	9	4	0	3	1	1	0	2	1	3	2	3	2	0	2	1	4	0	2	5	9			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:92926149G>A	ENST00000544910.1	+	16	1392		c.e16+1		CCDC132_ENST00000535481.1_Splice_Site|CCDC132_ENST00000317751.6_Splice_Site|CCDC132_ENST00000305866.5_Splice_Site|CCDC132_ENST00000541136.1_Splice_Site	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132											endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TAATCAGCAGGTAGTATTTAA	0.299													12	47					0	0	0	0	A	92926149	G	A	92926149	5	1	504	1	0	0	0	0	0	0	1	0	2792	1275	44	4	1363	4	CCDC132	7	92926149	Splice_Site	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		92926149	66212514	90	97484											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650440	121650440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctattgtgaatcctggtaGagacagtgctacaaaccaaa	14	9	9	9	1	0	2	0	1	0	1	1	3	1	2	2	1	3	3	2	1	6	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:121650440G>T	ENST00000393386.2	+	12	1751	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R447I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	447					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						AATCCTGGTAGAGACAGTGCT	0.398													15	104					3.45872e-05	3.54934e-05	1	0	T	121650440	G	T	121650440	3	4	504	1	0	0	0	0	1	0	0	0	12896	942	33	2	1386	2	PTPRZ1	7	121650440	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	28724291	121650440	37488223	91	97485											
METTL2B	55798	broad.mit.edu	37	chr7	128119373	128119373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttcttggagaacaagagtGaagtatgtgaatgtagaaac	15	10	13	3	0	1	5	0	2	1	3	1	6	1	5	0	2	2	3	0	2	7	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:128119373G>A	ENST00000480046.1	+	2	284	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	METTL2B_ENST00000262432.8_Missense_Mutation_p.E122K			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	122							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAACAAGAGTGAAGTATGTGA	0.398													14	83					0	0	0	0	A	128119373	G	A	128119373	3	1	504	1	0	0	0	0	1	0	0	0	9569	1291	45	2	374	2	METTL2B	7	128119373	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	6468933	128119373	31019290	92	97486											
OR2F2	135948	broad.mit.edu	37	chr7	143633211	143633211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatagtctaaggaataaaGaggtgaagggggcctggcat	13	10	14	4	0	1	2	0	1	1	1	1	3	1	3	1	5	0	1	1	5	7	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:143633211G>C	ENST00000408955.2	+	1	953	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AAGGAATAAAGAGGTGAAGGG	0.433													18	55					0	0	0	0	C	143633211	G	C	143633211	3	2	504	1	0	0	0	0	1	0	0	0	11068	943	33	2	888	2	OR2F2	7	143633211	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	15513838	143633211	15505452	93	97487											
LRRC61	65999	broad.mit.edu	37	chr7	150034380	150034380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaacccgctctgtgccaacCcctcctactgggctgcagtc	6	8	9	18	1	1	0	0	0	1	0	3	0	2	0	5	1	5	4	5	1	3	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:150034380C>G	ENST00000359623.4	+	3	1018	c.430C>G	c.(430-432)Ccc>Gcc	p.P144A	LRRC61_ENST00000493307.1_Missense_Mutation_p.P144A|LRRC61_ENST00000323078.7_Missense_Mutation_p.P144A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	144	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTGTGCCAACCCCTCCTACTG	0.657													4	29					0	0	0	0	G	150034380	C	G	150034380	3	3	504	1	0	0	0	0	1	0	0	0	9081	623	22	4	432	4	LRRC61	7	150034380	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	6401169	150034380	9104283	94	97488											
CYP7B1	9420	broad.mit.edu	37	chr8	65537090	65537090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaatggaggctcaccGggtctcctacaaggaaaaaa	14	9	9	9	1	3	0	2	0	1	0	4	2	3	2	2	4	1	1	2	4	7	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr8:65537090G>A	ENST00000310193.3	-	2	302	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	43					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.P43P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GAGGCTCACCGGGTCTCCTAC	0.363													17	122					0	0	0	0	A	65537090	G	A	65537090	2	1	504	1	0	0	0	0	0	0	0	1	4229	1103	39	1		1	CYP7B1	8	65537090	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		65537090	80826932	95	97489											
MTBP	27085	broad.mit.edu	37	chr8	121502758	121502758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggggagcagattgtacaGagagagaaacagttagctaa	15	8	13	5	0	1	3	0	0	1	3	1	6	1	4	0	2	4	4	0	2	4	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr8:121502758G>A	ENST00000305949.1	+	13	1440	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	465					cell cycle arrest					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)			AGATTGTACAGAGAGAGAAAC	0.328													7	70					0	0	0	0	A	121502758	G	A	121502758	2	1	504	1	0	0	0	0	0	0	0	1	9982	933	33	2		2	MTBP	8	121502758	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	55965668	121502758	24861264	96	97490											
FAM83H	286077	broad.mit.edu	37	chr8	144808407	144808407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccaggacgccagcagccGgtggacggcctagctcgggg	6	3	19	13	4	0	0	0	0	0	0	1	2	0	2	4	7	3	2	4	7	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr8:144808407G>A	ENST00000388913.3	-	5	3349	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1075					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAGCAGCCGGTGGACGGCC	0.687													4	29					0	0	0	0	A	144808407	G	A	144808407	3	1	504	1	0	0	0	0	1	0	0	0	5686	1116	39	1	319	1	FAM83H	8	144808407	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	23305649	144808407	1555615	97	97491											
ZDHHC21	340481	broad.mit.edu	37	chr9	14674322	14674322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgggtcaacaacaaagTgaatccggagacccattttg	13	9	10	9	1	1	2	1	1	0	1	2	3	2	2	2	2	2	0	2	2	4	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:14674322T>C	ENST00000380916.3	-	4	483	c.17A>G	c.(16-18)cAc>cGc	p.H6R		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	6					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		AACAACAAAGTGAATCCGGAG	0.383													6	142					0	0	0	0	C	14674322	T	C	14674322	3	2	504	1	0	0	0	0	1	0	0	0	17707	1696	59	5	800	5	ZDHHC21	9	14674322	Missense_Mutation	SNP	T	TCGA-UF-A7JO-01A-11D-A34J-08		14674322	126539109	98	97492											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	14					0	0	0	0	A	21971120	G	A	21971120	4	1	504	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	7296798	21971120	119242311	99	97493											
RECK	8434	broad.mit.edu	37	chr9	36100388	36100388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagccatgaatgacatGaagttgtgggagaaaggaag	16	6	15	4	0	0	4	0	3	0	1	0	7	0	6	1	3	1	1	1	3	5	1	rs144037912		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:36100388G>T	ENST00000377966.3	+	11	1712	c.1146G>T	c.(1144-1146)atG>atT	p.M382I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	382						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGAATGACATGAAGTTGTGGG	0.388													24	70					4.47668e-21	4.93906e-21	1	0	T	36100388	G	T	36100388	3	4	504	1	0	0	0	0	1	0	0	0	13282	1290	45	2	1188	2	RECK	9	36100388	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	14129268	36100388	105113043	100	97494											
SMC5	23137	broad.mit.edu	37	chr9	72962884	72962884	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagctggtagaaaaaattaAtgaaaaattcagcaattttt	19	12	7	3	0	1	3	1	1	0	2	1	3	1	3	0	1	2	3	0	1	8	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:72962884A>T	ENST00000361138.5	+	22	2877	c.2819A>T	c.(2818-2820)aAt>aTt	p.N940I	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	940					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAAAATTAATGAAAAATTC	0.274													11	53					0	0	0	0	T	72962884	A	T	72962884	3	4	504	1	0	0	0	0	1	0	0	0	14874	101	4	5	2905	5	SMC5	9	72962884	Missense_Mutation	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	36862496	72962884	68250547	101	97495											
ZFAND5	7763	broad.mit.edu	37	chr9	74975561	74975561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacccattgggctcattctgCcactattttgctgcctctga	6	15	7	13	0	3	1	1	1	2	0	3	1	3	1	3	1	4	2	3	1	2	6			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:74975561C>T	ENST00000237937.3	-	2	691	c.134G>A	c.(133-135)gGc>gAc	p.G45D	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.G45D|ZFAND5_ENST00000343431.2_Missense_Mutation_p.G45D|ZFAND5_ENST00000376962.5_Missense_Mutation_p.G45D	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	45							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GCTCATTCTGCCACTATTTTG	0.413													42	222					0	0	0	0	T	74975561	C	T	74975561	3	4	504	1	0	0	0	0	1	0	0	0	17725	739	26	4	527	4	ZFAND5	9	74975561	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	2012677	74975561	66237870	102	97496											
ZNF510	22869	broad.mit.edu	37	chr9	99521743	99521743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attacatttatagggtttttCtgctgtatgaattctctgat	9	20	7	5	0	2	2	0	2	2	0	3	2	2	2	0	1	2	3	0	1	5	8			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:99521743C>T	ENST00000375231.1	-	6	2019	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	ZNF510_ENST00000223428.4_Missense_Mutation_p.E457K			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TAGGGTTTTTCTGCTGTATGA	0.393													14	126					0	0	0	0	T	99521743	C	T	99521743	3	4	504	1	0	0	0	0	1	0	0	0	18049	922	32	2	686	2	ZNF510	9	99521743	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	24546182	99521743	41691688	103	97497											
C9orf106	414318	broad.mit.edu	37	chr9	132084723	132084731	+	RNA	DEL	CCAGTTCTG	CCAGTTCTG	-																															gtcccctcctaagaaagttcCcagttctgcctgtccatccc																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:132084723_132084731delCCAGTTCTG	ENST00000316786.1	+	0	684_692							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				AAGAAAGTTCCCAGTTCTGCCTGTCCATC	0.565													12	57	---	---	---	---					-	132084731	CCAGTTCTG	-	132084723	6	5	504	0	1	1	0	1	0	0	0	0	2472	623	22	0		0	C9orf106	9	132084723	RNA	DEL	CCAGTTCTG	TCGA-UF-A7JO-01A-11D-A34J-08	32562980	132084723	9128708	104	97498											
LCN15	389812	broad.mit.edu	37	chr9	139658213	139658213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccttcaggtactcggcatCcacctggttacagccgtccg	7	9	9	16	3	1	0	1	0	0	0	4	0	3	0	5	3	3	3	5	3	2	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:139658213C>G	ENST00000316144.5	-	3	283	c.259G>C	c.(259-261)Gat>Cat	p.D87H	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	87					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						TACTCGGCATCCACCTGGTTA	0.672													7	32					0	0	0	0	G	139658213	C	G	139658213	3	3	504	1	0	0	0	0	1	0	0	0	8736	855	30	2	311	2	LCN15	9	139658213	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	7573490	139658213	1555218	105	97499											
ABCA2	20	broad.mit.edu	37	chr9	139904519	139904519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctcgtcgaacagcgcGtcacactgcgggcagtagcc	8	6	14	13	5	1	1	1	1	0	0	3	2	1	1	1	1	5	3	1	1	2	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:139904519G>A	ENST00000265662.5	-	42	6558	c.6411C>T	c.(6409-6411)gaC>gaT	p.D2137D	ABCA2_ENST00000341511.6_Silent_p.D2137D|ABCA2_ENST00000371605.3_Silent_p.D2136D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2136	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGAACAGCGCGTCACACTGCG	0.697													3	14					0	0	0	0	A	139904519	G	A	139904519	2	1	504	1	0	0	0	0	0	0	0	1	32	1136	40	1		1	ABCA2	9	139904519	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	246306	139904519	1308912	106	97500											
OGDHL	55753	broad.mit.edu	37	chr10	50959895	50959895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catggagcgcactagccgggCcagcagggtccgcttctcct	6	7	13	15	3	1	0	0	0	1	0	3	1	2	1	4	3	3	3	4	3	1	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:50959895C>A	ENST00000374103.4	-	6	812	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S	OGDHL_ENST00000419399.1_Missense_Mutation_p.A186S|OGDHL_ENST00000432695.1_Missense_Mutation_p.A34S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	243					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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						ACTAGCCGGGCCAGCAGGGTC	0.607													21	96					2.27731e-05	2.34722e-05	1	0	A	50959895	C	A	50959895	3	1	504	1	0	0	0	0	1	0	0	0	10911	739	26	4	2377	4	OGDHL	10	50959895	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08		50959895	84574852	107	97501											
LRRTM3	347731	broad.mit.edu	37	chr10	68688010	68688010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtgtcatggaagcggtacCctgcgagcatgaagcagctg	10	7	14	10	3	1	1	1	1	0	0	1	3	1	2	1	2	6	4	1	2	3	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:68688010C>T	ENST00000361320.4	+	2	1914	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	446						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GAAGCGGTACCCTGCGAGCAT	0.537													30	80					0	0	0	0	T	68688010	C	T	68688010	3	4	504	1	0	0	0	0	1	0	0	0	9105	623	22	4	1342	4	LRRTM3	10	68688010	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	17728115	68688010	66846737	108	97502											
STOX1	219736	broad.mit.edu	37	chr10	70645099	70645099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcacaaaattcagaagaCgagtgatctgaaacccagcc	16	5	10	10	1	2	4	1	2	1	2	2	5	2	4	2	1	2	1	2	1	4	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:70645099C>T	ENST00000298596.6	+	3	1630	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.T516M|STOX1_ENST00000421961.2_Missense_Mutation_p.T406M|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	516						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ATTCAGAAGACGAGTGATCTG	0.438													6	58					0	0	0	0	T	70645099	C	T	70645099	3	4	504	1	0	0	0	0	1	0	0	0	15409	536	19	1	1557	1	STOX1	10	70645099	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	1957089	70645099	64889648	109	97503											
SFTPA1	653509	broad.mit.edu	37	chr10	81371740	81371740	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagatggtctcaaaggagaCcctggccctccaggtactgt	10	8	12	11	0	1	2	1	0	1	2	3	4	2	2	3	4	1	1	3	4	2	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:81371740C>T	ENST00000398636.3	+	3	297	c.159C>T	c.(157-159)gaC>gaT	p.D53D	SFTPA1_ENST00000428376.2_Silent_p.D53D|SFTPA1_ENST00000419470.2_Silent_p.D68D|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_Silent_p.D53D	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	53	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCAAAGGAGACCCTGGCCCTC	0.637													12	44					0	0	0	0	T	81371740	C	T	81371740	2	4	504	1	0	0	0	0	0	0	0	1	14276	506	18	4		4	SFTPA1	10	81371740	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	10726641	81371740	54163007	110	97504											
GLUD1	2746	broad.mit.edu	37	chr10	88822525	88822525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacaccacggccagtagcaGagatgcgtccatggattccc	11	6	11	13	2	0	2	0	0	0	2	2	4	2	3	4	2	2	2	4	2	1	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:88822525G>C	ENST00000277865.4	-	6	905	c.809C>G	c.(808-810)tCt>tGt	p.S270C	GLUD1_ENST00000537649.1_Missense_Mutation_p.S103C|GLUD1_ENST00000544149.1_Missense_Mutation_p.S137C	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	270			S -> C (in HHF6; diminished sensitivity to GTP).		glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCCAGTAGCAGAGATGCGTCC	0.433													6	49					0	0	0	0	C	88822525	G	C	88822525	3	2	504	1	0	0	0	0	1	0	0	0	6527	942	33	2	899	2	GLUD1	10	88822525	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	7450785	88822525	46712222	111	97505											
NPM3	10360	broad.mit.edu	37	chr10	103542039	103542039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgccgcccagtgatccGcacagggccagagcccgact	7	5	13	16	3	0	2	0	1	0	1	1	3	1	2	5	2	2	1	5	2	0	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:103542039G>A	ENST00000370110.5	-	4	416	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	132							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCAGTGATCCGCACAGGGCCA	0.617													3	35					0	0	0	0	A	103542039	G	A	103542039	3	1	504	1	0	0	0	0	1	0	0	0	10660	1086	38	1	150	1	NPM3	10	103542039	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	14719514	103542039	31992708	112	97506											
MXI1	4601	broad.mit.edu	37	chr10	111988081	111988081	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaccagcactgccaacaggTagcaagctgggaacgcttag	13	5	11	12	1	0	0	0	0	0	0	0	1	0	1	2	2	6	5	2	2	5	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:111988081T>C	ENST00000332674.5	+	2	611		c.e2+2		MXI1_ENST00000239007.7_Splice_Site|MXI1_ENST00000393134.1_Splice_Site|MXI1_ENST00000369612.1_Splice_Site|MXI1_ENST00000361248.4_Splice_Site|MXI1_ENST00000485566.1_Splice_Site	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGCCAACAGGTAGCAAGCTGG	0.572													4	37					0	0	0	0	C	111988081	T	C	111988081	5	2	504	1	0	0	0	0	0	0	1	0	10072	1652	57	5	492	5	MXI1	10	111988081	Splice_Site	SNP	T	TCGA-UF-A7JO-01A-11D-A34J-08	8446042	111988081	23546666	113	97507											
INPP5A	3632	broad.mit.edu	37	chr10	134563078	134563078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgccgacaccaatgaagtgGtgaagctcatatttcgtgag	11	9	11	10	3	1	3	1	3	0	0	2	4	1	3	3	1	1	1	3	1	4	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:134563078G>T	ENST00000368594.3	+	10	1067	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L	INPP5A_ENST00000368593.3_Missense_Mutation_p.V264L	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	264					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CAATGAAGTGGTGAAGCTCAT	0.622													20	59					1.64293e-13	1.78745e-13	1	0	T	134563078	G	T	134563078	3	4	504	1	0	0	0	0	1	0	0	0	7807	1261	44	4	828	4	INPP5A	10	134563078	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	22574997	134563078	971669	114	97508											
C11orf35	256329	broad.mit.edu	37	chr11	557947	557947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggagcgggccagctgcagGaggcaggacttctgcaagtt	9	6	17	9	1	1	0	0	0	1	0	1	4	1	3	1	5	4	5	1	5	1	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:557947G>A	ENST00000329451.3	-	5	554	c.492C>T	c.(490-492)ctC>ctT	p.L164L	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	164										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCTGCAGGAGGCAGGACT	0.677													5	22					0	0	0	0	A	557947	G	A	557947	2	1	504	1	0	0	0	0	0	0	0	1	1649	1161	41	2		2	C11orf35	11	557947	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		557947	134448569	115	97509											
MUC5B	727897	broad.mit.edu	37	chr11	1276645	1276645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacaaccttgtgccccCgggcccattcttcaacgcct	6	9	8	18	2	2	0	1	0	1	0	2	0	2	0	6	1	4	0	6	1	2	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:1276645C>T	ENST00000447027.1	+	37	15990	c.15932C>T	c.(15931-15933)cCg>cTg	p.P5311L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P5308L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5308					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTGTGCCCCCGGGCCCATTC	0.687													5	11					0	0	0	0	T	1276645	C	T	1276645	3	4	504	1	0	0	0	0	1	0	0	0	10049	652	23	1	16078	1	MUC5B	11	1276645	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	718698	1276645	133729871	116	97510											
DUSP8	1850	broad.mit.edu	37	chr11	1586850	1586850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgtgcagccggctggatGagctccgcaatggtcacctt	6	9	13	13	3	1	1	1	1	0	0	2	2	2	2	3	3	4	4	3	3	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:1586850G>A	ENST00000397374.3	-	2	334	c.207C>T	c.(205-207)ctC>ctT	p.L69L	DUSP8_ENST00000331588.4_Silent_p.L69L	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	69	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCGGCTGGATGAGCTCCGCAA	0.642													4	24					0	0	0	0	A	1586850	G	A	1586850	2	1	504	1	0	0	0	0	0	0	0	1	4867	1277	45	2		2	DUSP8	11	1586850	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	310205	1586850	133419666	117	97511											
RNF141	50862	broad.mit.edu	37	chr11	10540606	10540606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaatacacttctgacaaaAgctgtgagcacaaggcagga	16	7	9	9	0	2	2	1	2	1	0	2	3	2	3	0	2	3	3	0	2	5	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:10540606A>G	ENST00000265981.2	-	5	659	c.517T>C	c.(517-519)Ttt>Ctt	p.F173L	RNF141_ENST00000528665.1_Missense_Mutation_p.F173L	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	173							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		TTCTGACAAAAGCTGTGAGCA	0.468													4	40					0	0	0	0	G	10540606	A	G	10540606	3	3	504	1	0	0	0	0	1	0	0	0	13529	72	3	5	183	5	RNF141	11	10540606	Missense_Mutation	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	8953756	10540606	124465910	118	97512											
CALCA	796	broad.mit.edu	37	chr11	14991582	14991582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgcgcttcgtcctcactGagcgtggccgggtctgctgg	3	9	16	13	5	2	1	1	1	1	0	4	1	3	1	2	4	2	2	2	4	0	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:14991582G>A	ENST00000361010.3	-	3	200	c.126C>T	c.(124-126)ctC>ctT	p.L42L	CALCA_ENST00000359642.3_Silent_p.L42L|CALCA_ENST00000486207.1_Silent_p.L42L|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000396372.2_Silent_p.L42L|CALCA_ENST00000331587.4_Silent_p.L42L	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	42					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CGTCCTCACTGAGCGTGGCCG	0.637											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	34					0	0	0	0	A	14991582	G	A	14991582	2	1	504	1	0	0	0	0	0	0	0	1	2600	1277	45	2		2	CALCA	11	14991582	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	4450976	14991582	120014934	119	97513											
CHRM1	1128	broad.mit.edu	37	chr11	62677313	62677313	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccggaaggctttgttgcaGagtgcgtagcacatggggtt	7	11	15	8	2	0	1	0	0	0	1	1	2	1	2	1	4	3	6	1	4	2	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:62677313G>C	ENST00000306960.3	-	2	1801	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	420					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTTTGTTGCAGAGTGCGTAGC	0.612													47	151					0	0	0	0	C	62677313	G	C	62677313	2	2	504	1	0	0	0	0	0	0	0	1	3405	929	33	2		2	CHRM1	11	62677313	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	47685731	62677313	72329203	120	97514											
VEGFB	7423	broad.mit.edu	37	chr11	64003411	64003411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcgtgactgtgcagcGctgtggtggctgctgccctg	3	10	16	12	2	0	1	0	1	0	0	0	1	0	1	1	2	6	5	1	2	0	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:64003411G>A	ENST00000309422.2	+	3	526	c.230G>A	c.(229-231)cGc>cAc	p.R77H	VEGFB_ENST00000426086.2_Missense_Mutation_p.R77H	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	77					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						ACTGTGCAGCGCTGTGGTGGC	0.682													7	22					0	0	0	0	A	64003411	G	A	64003411	3	1	504	1	0	0	0	0	1	0	0	0	17247	1087	38	1	240	1	VEGFB	11	64003411	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	1326098	64003411	71003105	121	97515											
UVRAG	7405	broad.mit.edu	37	chr11	75715074	75715074	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattttcagctgagcacctCaaacttcaactccagaagga	13	9	7	12	0	3	2	3	1	0	1	4	3	4	3	2	1	4	3	2	1	3	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:75715074C>G	ENST00000356136.3	+	9	1093	c.852C>G	c.(850-852)ctC>ctG	p.L284L	UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000528420.1_Silent_p.L183L|UVRAG_ENST00000532130.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	284					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTGAGCACCTCAAACTTCAAC	0.418													42	148					0	0	0	0	G	75715074	C	G	75715074	2	3	504	1	0	0	0	0	0	0	0	1	17204	813	29	2		2	UVRAG	11	75715074	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	11711663	75715074	59291442	122	97516											
KBTBD3	143879	broad.mit.edu	37	chr11	105924819	105924819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatctgattccagacatttCtgtagtactccaaaattcat	12	15	4	10	0	4	2	2	1	2	1	6	2	6	2	2	0	1	2	2	0	4	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:105924819C>G	ENST00000526793.1	-	3	756	c.597G>C	c.(595-597)caG>caC	p.Q199H	KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q120H|KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q199H	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	195	BACK.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CCAGACATTTCTGTAGTACTC	0.323													13	63					0	0	0	0	G	105924819	C	G	105924819	3	3	504	1	0	0	0	0	1	0	0	0	8047	912	32	2	1245	2	KBTBD3	11	105924819	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	30209745	105924819	29081697	123	97517											
BCO2	83875	broad.mit.edu	37	chr11	112064603	112064603	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagggtttggtttcagcCatgactgacaatactaatgt	10	14	9	8	0	2	2	1	2	1	0	2	2	2	2	1	2	2	2	1	2	4	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:112064603C>A	ENST00000357685.5	+	4	654	c.517_splice	c.e4-1	p.A173_splice	BCO2_ENST00000526088.1_Splice_Site_p.A139_splice|SDHD_ENST00000532612.1_Intron|BCO2_ENST00000532593.1_Splice_Site_p.A68_splice|BCO2_ENST00000531169.1_Splice_Site_p.A139_splice|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000393032.2_Splice_Site_p.A139_splice|BCO2_ENST00000438022.1_Splice_Site_p.A139_splice			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	173					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TGGTTTCAGCCATGACTGACA	0.423													19	68					3.32936e-07	3.46194e-07	1	0	A	112064603	C	A	112064603	5	1	504	1	0	0	0	0	0	0	1	0	1389	608	21	4	533	4	BCO2	11	112064603	Splice_Site	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	6139784	112064603	22941913	124	97518											
GABARAPL1	23710	broad.mit.edu	37	chr12	10374431	10374431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatgtggcctacagtgatGagagtgtctatgggaaatga	11	12	14	4	0	1	3	0	3	1	1	1	5	1	4	1	2	1	1	1	2	4	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:10374431G>C	ENST00000546017.1	+	4	1003	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	GABARAPL1_ENST00000266458.5_Missense_Mutation_p.E112Q|GABARAPL1_ENST00000539170.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.E112Q			Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	112	Interaction with beta-tubulin (By similarity).					autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding			NS(1)|lung(1)	2						CTACAGTGATGAGAGTGTCTA	0.478													5	54					0	0	0	0	C	10374431	G	C	10374431	3	2	504	1	0	0	0	0	1	0	0	0	6201	1291	45	2	348	2	GABARAPL1	12	10374431	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		10374431	123477464	125	97519											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435201	18435202	+	Frame_Shift_Ins	INS	-	-	T																															gtgaaattgatgaaaacaccINSttttttgtgcccactgcacc																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:18435201_18435202insT	ENST00000433979.1	+	2	302_303	c.186_187insT	c.(184-189)acttttfs	p.TF62fs	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.TF62fs|PIK3C2G_ENST00000266497.5_Frame_Shift_Ins_p.TF62fs|PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.TF62fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	62					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGCC	0.406													17	83	---	---	---	---					T	18435202	-	T	18435201	7	5	504	1	0	1	1	0	0	0	0	0	11983	668	24	0	188	0	PIK3C2G	12	18435201	Frame_Shift_Ins	INS	-	TCGA-UF-A7JO-01A-11D-A34J-08	8060770	18435201	115416694	126	97520											
ITPR2	3709	broad.mit.edu	37	chr12	26943114	26943114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttcttgggagggttggCaaggtccccggcctctgggt	5	10	16	10	1	2	0	0	0	2	0	3	2	3	1	3	6	1	2	3	6	2	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:26943114C>T	ENST00000381340.3	-	2	555	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	ITPR2_ENST00000242737.5_Missense_Mutation_p.A47T	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	47					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGAGGGTTGGCAAGGTCCCCG	0.388													4	100					0	0	0	0	T	26943114	C	T	26943114	3	4	504	1	0	0	0	0	1	0	0	0	7974	710	25	4	8190	4	ITPR2	12	26943114	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	8507913	26943114	106908781	127	97521											
FAM186B	84070	broad.mit.edu	37	chr12	49993562	49993562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaactcggcgggtccGtggtctgtaggtaaactcca	7	10	15	9	3	1	0	0	0	1	0	4	1	3	1	2	5	2	2	2	5	4	2	rs139362702	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:49993562G>A	ENST00000544141.1	-	4	2190	c.1591C>T	c.(1591-1593)Cgg>Tgg	p.R531W	FAM186B_ENST00000257894.2_Missense_Mutation_p.R621W|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	621						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGGCGGGTCCGTGGTCTGTAG	0.567													18	120					0	0	0	0	A	49993562	G	A	49993562	3	1	504	1	0	0	0	0	1	0	0	0	5554	1144	40	1	836	1	FAM186B	12	49993562	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	23050448	49993562	83858333	128	97522											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-																															ggctgtggtacccagatgtaCttcttcttcttctttggcag																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													11	287	---	---	---	---					-	55615116	CTT	-	55615114	7	5	504	1	0	1	0	1	0	0	0	0	10966	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-UF-A7JO-01A-11D-A34J-08	5621552	55615114	78236781	129	97523											
ITGA7	3679	broad.mit.edu	37	chr12	56086664	56086664	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctcagcagaggacacTggccaccaggacatgctggg	9	8	12	12	0	2	1	1	0	2	1	3	3	2	3	2	4	2	2	2	4	0	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:56086664T>G	ENST00000257880.7	-	22	3159	c.2940A>C	c.(2938-2940)ccA>ccC	p.P980P	ITGA7_ENST00000553804.1_Silent_p.P940P|ITGA7_ENST00000555728.1_Silent_p.P980P|ITGA7_ENST00000452168.2_Silent_p.P843P|ITGA7_ENST00000394229.2_Silent_p.P936P|ITGA7_ENST00000394230.2_Silent_p.P940P|ITGA7_ENST00000347027.6_Silent_p.P930P|ITGA7_ENST00000257879.6_Silent_p.P936P			Q13683	ITA7_HUMAN	integrin, alpha 7	980					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGAGGACACTGGCCACCAGG	0.637													7	20					0	0	0	0	G	56086664	T	G	56086664	2	3	504	1	0	0	0	0	0	0	0	1	7934	1567	55	5		5	ITGA7	12	56086664	Silent	SNP	T	TCGA-UF-A7JO-01A-11D-A34J-08	471550	56086664	77765231	130	97524											
ANKRD52	283373	broad.mit.edu	37	chr12	56648679	56648679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaatgcagaggctgccGctcctttttgtcacagacat	8	11	9	13	1	1	2	1	0	0	2	2	2	2	2	3	1	3	3	3	1	1	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:56648679G>A	ENST00000267116.7	-	6	641	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	174							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGAGGCTGCCGCTCCTTTTTG	0.493													39	82					0	0	0	0	A	56648679	G	A	56648679	3	1	504	1	0	0	0	0	1	0	0	0	677	1086	38	1	2802	1	ANKRD52	12	56648679	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	562015	56648679	77203216	131	97525											
PAN2	9924	broad.mit.edu	37	chr12	56712917	56712917	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaatcattcgttttcGgggcatatggaacaggtaga	12	10	13	6	2	1	1	1	0	0	1	3	3	1	3	0	5	1	3	0	5	4	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:56712917G>A	ENST00000425394.2	-	24	3707	c.3331C>T	c.(3331-3333)Cga>Tga	p.R1111*	PAN2_ENST00000548043.1_Nonsense_Mutation_p.R1111*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.R1107*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.R1110*|PAN2_ENST00000549090.1_Intron	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1111	Exonuclease.				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			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						ATTCGTTTTCGGGGCATATGG	0.498													29	54					0	0	0	0	A	56712917	G	A	56712917	4	1	504	1	0	0	0	0	0	1	0	0	11485	1124	39	1	289	1	PAN2	12	56712917	Nonsense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	64238	56712917	77138978	132	97526											
LRRC10	376132	broad.mit.edu	37	chr12	70004328	70004328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaggatgcagagctgtttCaaggtgcacaccacctgggg	10	8	14	9	0	1	2	1	0	0	2	1	3	1	3	2	4	3	4	2	4	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:70004328C>G	ENST00000361484.3	-	1	614	c.291G>C	c.(289-291)ttG>ttC	p.L97F		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	97						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGAGCTGTTTCAAGGTGCACA	0.572													14	148					0	0	0	0	G	70004328	C	G	70004328	3	3	504	1	0	0	0	0	1	0	0	0	9031	825	29	2	546	2	LRRC10	12	70004328	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	13291411	70004328	63847567	133	97527											
PAH	5053	broad.mit.edu	37	chr12	103234269	103234269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgtagcgaactgagaagggCcgaggtattgtggcagcaaa	12	7	15	7	3	0	1	0	1	0	1	1	4	0	1	1	3	3	4	1	3	5	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:103234269C>A	ENST00000553106.1	-	12	1696	c.1224G>T	c.(1222-1224)cgG>cgT	p.R408R	PAH_ENST00000307000.2_Silent_p.R403R	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	408			R -> Q (in PKU; haplotypes 4,12).|R -> W (in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTGAGAAGGGCCGAGGTATTG	0.458													16	68					1.52009e-12	1.64618e-12	1	0	A	103234269	C	A	103234269	2	1	504	1	0	0	0	0	0	0	0	1	11465	726	26	4		4	PAH	12	103234269	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	33229941	103234269	30617626	134	97528											
GLTP	51228	broad.mit.edu	37	chr12	110290475	110290475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccaggcactcctcctccGtaacattctgccccttggag	6	11	7	17	1	2	0	0	0	2	0	6	1	5	1	6	2	2	2	6	2	1	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:110290475G>A	ENST00000318348.4	-	5	628	c.515C>T	c.(514-516)aCg>aTg	p.T172M	GLTP_ENST00000544393.1_Missense_Mutation_p.T153M	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	172						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		CTCCTCCTCCGTAACATTCTG	0.542											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	304					0	0	0	0	A	110290475	G	A	110290475	3	1	504	1	0	0	0	0	1	0	0	0	6522	1145	40	1	118	1	GLTP	12	110290475	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	7056206	110290475	23561420	135	97529											
PPTC7	160760	broad.mit.edu	37	chr12	110977654	110977654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttagctcctgaagaatCatataatcaggcatgttgtc	11	16	7	7	0	2	2	2	1	0	1	4	2	3	2	1	1	1	3	1	1	5	6			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:110977654C>T	ENST00000354300.3	-	4	987	c.699G>A	c.(697-699)atG>atA	p.M233I		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	233	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						CCTGAAGAATCATATAATCAG	0.433													9	67					0	0	0	0	T	110977654	C	T	110977654	3	4	504	1	0	0	0	0	1	0	0	0	12489	826	29	2	227	2	PPTC7	12	110977654	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	687179	110977654	22874241	136	97530											
HNF1A	6927	broad.mit.edu	37	chr12	121435467	121435467	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagctgcagagcccccaCggtgagcgccctgtgcccca	6	5	12	18	2	1	2	1	1	0	1	1	2	1	2	5	1	5	3	5	1	0	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:121435467C>T	ENST00000257555.6	+	7	1726	c.1501_splice	c.e7+1	p.H500_splice	HNF1A_ENST00000544413.1_Splice_Site_p.H500_splice|HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000400024.2_Silent_p.H500H|HNF1A_ENST00000541395.1_Splice_Site_p.H500_splice|HNF1A_ENST00000538626.1_Silent_p.H82H			P20823	HNF1A_HUMAN	HNF1 homeobox A	500					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGCCCCCACGGTGAGCGCC	0.627									Hepatic Adenoma, Familial Clustering of				3	19					0	0	0	0	T	121435467	C	T	121435467	5	4	504	1	0	0	0	0	0	0	1	0	7301	550	19	1	1526	1	HNF1A	12	121435467	Splice_Site	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	10457813	121435467	12416428	137	97531											
EP400	57634	broad.mit.edu	37	chr12	132504724	132504724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcccgcttcgaggacggCcgcccatcgccacgttctct	5	7	12	17	6	1	0	0	0	1	0	4	2	1	1	4	3	0	2	4	3	0	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:132504724C>T	ENST00000333577.4	+	23	4625	c.4516C>T	c.(4516-4518)Ccg>Tcg	p.P1506S	EP400_ENST00000332482.4_Missense_Mutation_p.P1433S|EP400_ENST00000330386.6_Missense_Mutation_p.P1470S|EP400_ENST00000389561.2_Missense_Mutation_p.P1470S|EP400_ENST00000389562.2_Missense_Mutation_p.P1469S			Q96L91	EP400_HUMAN	E1A binding protein p400	1506					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGAGGACGGCCGCCCATCGC	0.642													4	96					0	0	0	0	T	132504724	C	T	132504724	3	4	504	1	0	0	0	0	1	0	0	0	5187	739	26	4	4487	4	EP400	12	132504724	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	11069257	132504724	1347171	138	97532											
AKAP11	11215	broad.mit.edu	37	chr13	42877782	42877782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagaaatctaggatttttCatctcagtgtccctcagatt	11	15	6	9	0	5	2	4	0	2	2	7	3	6	3	1	1	0	0	1	1	2	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr13:42877782C>T	ENST00000025301.2	+	8	5075	c.4900C>T	c.(4900-4902)Cat>Tat	p.H1634Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1634					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TAGGATTTTTCATCTCAGTGT	0.423													30	100					0	0	0	0	T	42877782	C	T	42877782	3	4	504	1	0	0	0	0	1	0	0	0	447	826	29	2	4922	2	AKAP11	13	42877782	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08		42877782	72292096	139	97533											
TMTC4	84899	broad.mit.edu	37	chr13	101266643	101266643	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcagcacggtggcatttctCcacgcattcaaggcatccac	9	10	8	14	2	3	0	2	0	1	0	5	0	4	0	2	3	1	4	2	3	1	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr13:101266643C>T	ENST00000342624.5	-	16	2136	c.1878G>A	c.(1876-1878)tgG>tgA	p.W626*	TMTC4_ENST00000376234.3_Nonsense_Mutation_p.W607*|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.W496*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	607						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCATTTCTCCACGCATTCA	0.448													29	95					0	0	0	0	T	101266643	C	T	101266643	4	4	504	1	0	0	0	0	0	1	0	0	16357	856	30	2	420	2	TMTC4	13	101266643	Nonsense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	58388861	101266643	13903235	140	97534											
FAM155A	728215	broad.mit.edu	37	chr13	108518288	108518288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacgaaaggtaaaaatcCgacaagttccagagcggagt	18	5	10	8	3	0	1	0	0	0	1	2	4	2	2	2	2	2	2	2	2	7	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr13:108518288C>T	ENST00000375915.2	-	1	795	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	219						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGTAAAAATCCGACAAGTTCC	0.577													20	73					0	0	0	0	T	108518288	C	T	108518288	2	4	504	1	0	0	0	0	0	0	0	1	5506	639	23	1		1	FAM155A	13	108518288	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	7251645	108518288	6651590	141	97535											
ARID4A	5926	broad.mit.edu	37	chr14	58831438	58831438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgagaatggaatggaaatGacaaatactgtatctcaaga	18	10	9	4	0	1	3	1	2	1	2	2	6	1	5	0	2	1	1	0	2	7	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:58831438G>A	ENST00000355431.3	+	20	3004	c.2631G>A	c.(2629-2631)atG>atA	p.M877I	ARID4A_ENST00000395168.3_Missense_Mutation_p.M877I|ARID4A_ENST00000431317.2_Missense_Mutation_p.M877I|ARID4A_ENST00000348476.3_Missense_Mutation_p.M877I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	877					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAATGGAAATGACAAATACTG	0.328													10	50					0	0	0	0	A	58831438	G	A	58831438	3	1	504	1	0	0	0	0	1	0	0	0	921	1290	45	2	2705	2	ARID4A	14	58831438	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		58831438	48518102	142	97536											
SGPP1	81537	broad.mit.edu	37	chr14	64194623	64194623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactttctgcgggtcctgcaGacggccaaccagctgggcca	7	7	12	15	2	1	1	0	0	1	1	2	1	2	1	4	3	4	2	4	3	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:64194623G>C	ENST00000247225.6	-	1	134	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	14						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GGGTCCTGCAGACGGCCAACC	0.721													3	5					0	0	0	0	C	64194623	G	C	64194623	3	2	504	1	0	0	0	0	1	0	0	0	14306	933	33	2	1297	2	SGPP1	14	64194623	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	5363185	64194623	43154917	143	97537											
ADAM21	8747	broad.mit.edu	37	chr14	70926267	70926267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagagaggagttttttTgccgctgattgtgattcctt	8	16	11	6	1	0	3	0	2	0	1	1	5	1	4	2	1	2	3	2	1	1	6	rs78717717		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:70926267T>C	ENST00000603540.1	+	2	2309	c.2051T>C	c.(2050-2052)tTg>tCg	p.L684S	ADAM21_ENST00000267499.3_Missense_Mutation_p.L684S|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	684					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGAGTTTTTTTGCCGCTGATT	0.488													7	58					0	0	0	0	C	70926267	T	C	70926267	3	2	504	1	0	0	0	0	1	0	0	0	243	1821	63	5	2053	5	ADAM21	14	70926267	Missense_Mutation	SNP	T	TCGA-UF-A7JO-01A-11D-A34J-08	6731644	70926267	36423273	144	97538											
CCDC88C	440193	broad.mit.edu	37	chr14	91805805	91805805	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtgaggtccacgatcAgctgcagccgggcagagagg	9	5	16	11	2	1	3	1	2	0	1	2	5	2	3	3	3	3	3	3	3	0	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:91805805A>G	ENST00000389857.6	-	8	712	c.624_splice	c.e8-1	p.L209_splice		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	209					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTCCACGATCAGCTGCAGCCG	0.602													3	14					0	0	0	0	G	91805805	A	G	91805805	5	3	504	1	0	0	0	0	0	0	1	0	2892	202	7	5	5552	5	CCDC88C	14	91805805	Splice_Site	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	20879538	91805805	15543735	145	97539											
SETD3	84193	broad.mit.edu	37	chr14	99866585	99866585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtctcccagcaagtgttCtttcagttcttctacaagaa	9	14	7	11	0	5	1	1	0	4	1	6	1	5	1	1	0	2	4	1	0	4	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:99866585C>G	ENST00000331768.5	-	12	1348	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	397					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AGCAAGTGTTCTTTCAGTTCT	0.403													11	123					0	0	0	0	G	99866585	C	G	99866585	3	3	504	1	0	0	0	0	1	0	0	0	14219	922	32	2	603	2	SETD3	14	99866585	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	8060780	99866585	7482955	146	97540											
PACS2	23241	broad.mit.edu	37	chr14	105821444	105821444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagatcatgctgcagcgcaGaaagcgctacaagaacagaa	16	5	10	10	2	2	4	2	0	0	4	2	4	2	4	0	0	6	4	0	0	5	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:105821444G>C	ENST00000447393.1	+	4	528	c.353G>C	c.(352-354)aGa>aCa	p.R118T	PACS2_ENST00000458164.2_Missense_Mutation_p.R118T|PACS2_ENST00000325438.8_Missense_Mutation_p.R118T|PACS2_ENST00000430725.2_Missense_Mutation_p.R51T|PACS2_ENST00000547217.1_Missense_Mutation_p.R88T	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	118					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CTGCAGCGCAGAAAGCGCTAC	0.607													7	37					0	0	0	0	C	105821444	G	C	105821444	3	2	504	1	0	0	0	0	1	0	0	0	11444	942	33	2	367	2	PACS2	14	105821444	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	5954859	105821444	1528096	147	97541											
MTMR10	54893	broad.mit.edu	37	chr15	31253221	31253222	+	In_Frame_Ins	INS	-	-	CCT																															tgccaccaccagctccattaINScctcctcctcctcctcctcc																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:31253221_31253222insCCT	ENST00000435680.1	-	7	717_718	c.620_621insAGG	c.(619-621)gaa>gAGGaa	p.207_207E>EE	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_In_Frame_Ins_p.125_125E>EE|MTMR10_ENST00000425768.1_In_Frame_Ins_p.176_177insR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	207	Poly-Gly.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGCTCCATTAcctcctcctcc	0.465													3	4	---	---	---	---					CCT	31253222	-	CCT	31253221	7	5	504	1	0	1	1	0	0	0	0	0	10009	378	14	0	1752	0	MTMR10	15	31253221	In_Frame_Ins	INS	-	TCGA-UF-A7JO-01A-11D-A34J-08		31253221	71278171	148	97542											
RASGRP1	10125	broad.mit.edu	37	chr15	38808409	38808409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacataccgatatcctccGgaaagacttgaactcaaggt	14	9	7	11	2	1	2	1	1	0	1	3	4	3	3	3	2	3	0	3	2	6	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:38808409G>A	ENST00000310803.5	-	6	841	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	RASGRP1_ENST00000450598.2_Missense_Mutation_p.R222W|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R222W|RASGRP1_ENST00000559830.1_Missense_Mutation_p.R222W|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R174W|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R273W	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	222	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GATATCCTCCGGAAAGACTTG	0.448													7	60					0	0	0	0	A	38808409	G	A	38808409	3	1	504	1	0	0	0	0	1	0	0	0	13156	1115	39	1	1777	1	RASGRP1	15	38808409	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	7555188	38808409	63722983	149	97543											
MAP1A	4130	broad.mit.edu	37	chr15	43815351	43815351	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggagataagccattcccTctagacactgcagaggaggg	12	7	12	10	0	1	3	0	0	1	3	2	5	2	4	2	3	2	1	2	3	3	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:43815351T>C	ENST00000382031.1	+	5	2425	c.2394T>C	c.(2392-2394)ccT>ccC	p.P798P	MAP1A_ENST00000399453.1_Silent_p.P560P|MAP1A_ENST00000300231.5_Silent_p.P560P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	560						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCCATTCCCTCTAGACACTG	0.537													23	64					0	0	0	0	C	43815351	T	C	43815351	2	2	504	1	0	0	0	0	0	0	0	1	9296	1538	54	5		5	MAP1A	15	43815351	Silent	SNP	T	TCGA-UF-A7JO-01A-11D-A34J-08	5006942	43815351	58716041	150	97544											
WDR76	79968	broad.mit.edu	37	chr15	44134857	44134857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacactgagaagggattatCtagcattaaaaggtaagttg	16	10	11	4	0	1	1	0	1	1	1	1	4	1	2	0	2	2	3	0	2	7	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:44134857C>G	ENST00000263795.6	+	7	936	c.866C>G	c.(865-867)tCt>tGt	p.S289C	WDR76_ENST00000381246.2_Missense_Mutation_p.S225C	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	289										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AAGGGATTATCTAGCATTAAA	0.284											OREG0003949	type=REGULATORY REGION|Gene=AK124169|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	71					0	0	0	0	G	44134857	C	G	44134857	3	3	504	1	0	0	0	0	1	0	0	0	17422	913	32	2	892	2	WDR76	15	44134857	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	319506	44134857	58396535	151	97545											
SQRDL	58472	broad.mit.edu	37	chr15	45954317	45954317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattcacacagatgacgaCgagaaggtaaccactgaggc	14	6	11	10	2	1	4	1	2	0	2	1	6	1	4	1	2	2	2	1	2	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:45954317C>T	ENST00000260324.7	+	3	785	c.399C>T	c.(397-399)gaC>gaT	p.D133D	SQRDL_ENST00000568606.1_Silent_p.D133D|RP11-96O20.4_ENST00000564080.1_Silent_p.D133D	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	133							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CAGATGACGACGAGAAGGTAA	0.443													13	72					0	0	0	0	T	45954317	C	T	45954317	2	4	504	1	0	0	0	0	0	0	0	1	15219	535	19	1		1	SQRDL	15	45954317	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	1819460	45954317	56577075	152	97546											
CLN6	54982	broad.mit.edu	37	chr15	68506654	68506654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagaaagggcgtgatgaCgttgtaggccatgtggaagt	12	8	16	5	2	0	3	0	2	0	1	0	5	0	4	1	3	0	2	1	3	4	2	rs140519790	by1000genomes	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:68506654C>T	ENST00000249806.5	-	3	428	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	CLN6_ENST00000418702.2_Silent_p.T56T|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Missense_Mutation_p.V91I|CLN6_ENST00000564752.1_Missense_Mutation_p.V91I|CLN6_ENST00000538696.1_Missense_Mutation_p.V123I|CLN6_ENST00000565471.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	91					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCGTGATGACGTTGTAGGCC	0.547													12	42					0	0	0	0	T	68506654	C	T	68506654	3	4	504	1	0	0	0	0	1	0	0	0	3575	536	19	1	684	1	CLN6	15	68506654	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	22552337	68506654	34024738	153	97547											
NETO2	81831	broad.mit.edu	37	chr16	47117201	47117201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acataaatttcacagggaatCtcctccattactcggtcttc	11	13	5	12	1	3	0	1	0	2	0	7	1	4	1	2	2	1	0	2	2	4	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:47117201C>T	ENST00000562435.1	-	9	1893	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	NETO2_ENST00000303155.5_Silent_p.E496E	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	503						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CACAGGGAATCTCCTCCATTA	0.428										HNSCC(25;0.065)			15	120					0	0	0	0	T	47117201	C	T	47117201	2	4	504	1	0	0	0	0	0	0	0	1	10410	912	32	2		2	NETO2	16	47117201	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08		47117201	43237552	154	97548											
ANKRD11	29123	broad.mit.edu	37	chr16	89341312	89341312	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggcgatggtcctggcCgcccggcagtgaacccgcag	5	7	16	13	4	0	1	0	1	0	0	1	2	1	1	4	5	1	3	4	5	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:89341312C>T	ENST00000301030.4	-	11	8083	c.7623G>A	c.(7621-7623)gcG>gcA	p.A2541A	ANKRD11_ENST00000378330.2_Silent_p.A2541A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2541						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGTCCTGGCCGCCCGGCAGT	0.622													18	54					0	0	0	0	T	89341312	C	T	89341312	2	4	504	1	0	0	0	0	0	0	0	1	639	639	23	1		1	ANKRD11	16	89341312	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	42224111	89341312	1013441	155	97549											
ZNF276	92822	broad.mit.edu	37	chr16	89804288	89804288	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttctcgtccaccaaatgCgacattcgggagccaagcct	10	8	8	15	3	1	0	0	0	1	0	4	2	2	1	5	1	3	0	5	1	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:89804288C>T	ENST00000289816.5	+	10	1636	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	ZNF276_ENST00000443381.2_Nonsense_Mutation_p.R517*|ZNF276_ENST00000446326.2_Nonsense_Mutation_p.R303*|ZNF276_ENST00000568064.1_Nonsense_Mutation_p.R425*|FANCA_ENST00000389301.3_3'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCACCAAATGCGACATTCGGG	0.572													13	66					0	0	0	0	T	89804288	C	T	89804288	4	4	504	1	0	0	0	0	0	1	0	0	17906	760	27	1	1587	1	ZNF276	16	89804288	Nonsense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	462976	89804288	550465	156	97550											
DEF8	54849	broad.mit.edu	37	chr16	90020771	90020771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggaggaggtcccggaCgtcactcctgaaggtgggtg	6	7	18	10	2	1	1	1	1	0	0	3	4	3	4	3	7	0	0	3	7	1	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:90020771C>T	ENST00000563594.1	+	3	1108	c.111C>T	c.(109-111)gaC>gaT	p.D37D	DEF8_ENST00000563795.1_Silent_p.D37D|DEF8_ENST00000418391.2_Silent_p.D37D|DEF8_ENST00000570182.1_Silent_p.D37D|DEF8_ENST00000569453.1_Silent_p.D37D|DEF8_ENST00000268676.7_Silent_p.D98D|DEF8_ENST00000567874.1_Intron	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	98					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGGTCCCGGACGTCACTCCTG	0.647													8	57					0	0	0	0	T	90020771	C	T	90020771	2	4	504	1	0	0	0	0	0	0	0	1	4419	535	19	1		1	DEF8	16	90020771	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	216483	90020771	333982	157	97551											
SMG6	23293	broad.mit.edu	37	chr17	2203825	2203825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattaacaatttcatctttGaattcctcactcccaggggg	10	14	6	11	0	4	1	3	1	1	0	6	1	6	1	2	2	1	0	2	2	3	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:2203825G>C	ENST00000544865.1	-	2	639	c.129C>G	c.(127-129)ttC>ttG	p.F43L	SMG6_ENST00000263073.5_Missense_Mutation_p.F74L			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	74					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTCATCTTTGAATTCCTCAC	0.453													33	185					0	0	0	0	C	2203825	G	C	2203825	3	2	504	1	0	0	0	0	1	0	0	0	14885	1281	45	2	4109	2	SMG6	17	2203825	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		2203825	78991385	158	97552											
SPATA22	84690	broad.mit.edu	37	chr17	3365871	3365871	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactgaatgtggtatttGcctttcaagggaatatgtct	12	14	10	5	0	2	2	1	1	1	1	2	3	2	3	1	2	2	1	1	2	6	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:3365871G>T	ENST00000573128.1	-	5	718	c.233_splice	c.e5-1	p.Q79_splice	SPATA22_ENST00000575375.1_Splice_Site_p.Q79_splice|SPATA22_ENST00000355380.4_Splice_Site_p.Q36_splice|SPATA22_ENST00000397168.3_Splice_Site_p.Q79_splice|SPATA22_ENST00000572969.1_Splice_Site_p.Q79_splice|SPATA22_ENST00000541913.1_Splice_Site_p.Q63_splice|SPATA22_ENST00000268981.5_Splice_Site_p.Q79_splice			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	79										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TGTGGTATTTGCCTTTCAAGG	0.353													26	73					9.57634e-11	1.02293e-10	1	0	T	3365871	G	T	3365871	5	4	504	1	0	0	0	0	0	0	1	0	15098	1333	46	4	876	4	SPATA22	17	3365871	Splice_Site	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	1162046	3365871	77829339	159	97553											
PITPNM3	83394	broad.mit.edu	37	chr17	6377809	6377809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggcccagtggcgagcCgaagaggaagaagtcggaca	13	2	16	10	3	0	2	0	0	0	2	1	7	0	4	3	4	1	0	3	4	3	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:6377809C>T	ENST00000262483.8	-	10	1288	c.1201G>A	c.(1201-1203)Ggc>Agc	p.G401S	ACKR6_ENST00000421306.3_Missense_Mutation_p.G365S	NM_031220.3	NP_112497.2																					AGTGGCGAGCCGAAGAGGAAG	0.672													5	20					0	0	0	0	T	6377809	C	T	6377809	3	4	504	1	0	0	0	0	1	0	0	0	12024	652	23	1	1767	1	PITPNM3	17	6377809	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	3011938	6377809	74817401	160	97554											
SLC13A5	284111	broad.mit.edu	37	chr17	6610395	6610395	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaaaagcaagacaggcatGagagaggtgacagccagagg	16	2	17	6	0	0	5	0	2	0	3	0	7	0	6	1	4	2	2	1	4	3	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:6610395G>C	ENST00000433363.2	-	2	416	c.183C>G	c.(181-183)ctC>ctG	p.L61L	SLC13A5_ENST00000573648.1_Silent_p.L61L|SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000293800.6_Silent_p.L61L	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	61						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AGACAGGCATGAGAGAGGTGA	0.527													12	43					0	0	0	0	C	6610395	G	C	6610395	2	2	504	1	0	0	0	0	0	0	0	1	14483	1277	45	2		2	SLC13A5	17	6610395	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	232586	6610395	74584815	161	97555											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:7578211C>A	ENST00000420246.2	-	6	770	c.638G>T	c.(637-639)cGa>cTa	p.R213L	TP53_ENST00000445888.2_Missense_Mutation_p.R213L|TP53_ENST00000413465.2_Missense_Mutation_p.R213L|TP53_ENST00000455263.2_Missense_Mutation_p.R213L|TP53_ENST00000359597.4_Missense_Mutation_p.R213L|TP53_ENST00000269305.4_Missense_Mutation_p.R213L|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		CACACTATGTCGAAAAGTGTT	0.532		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)			6	44					0.0293803	0.0296325	1	0	A	7578211	C	A	7578211	3	1	504	1	0	0	0	0	1	0	0	0	16476	884	31	3	656	3	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	967816	7578211	73616999	162	97556											
TP53	7157	broad.mit.edu	37	chr17	7579369	7579369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagacggaaaccgtaGctgccctggtaggttttctg	9	9	12	11	2	1	1	0	0	1	1	1	2	1	2	3	3	4	4	3	3	4	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:7579369G>C	ENST00000420246.2	-	4	450	c.318C>G	c.(316-318)agC>agG	p.S106R	TP53_ENST00000445888.2_Missense_Mutation_p.S106R|TP53_ENST00000413465.2_Missense_Mutation_p.S106R|TP53_ENST00000455263.2_Missense_Mutation_p.S106R|TP53_ENST00000359597.4_Missense_Mutation_p.S106R|TP53_ENST00000269305.4_Missense_Mutation_p.S106R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	106	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		S -> G (in a sporadic cancer; somatic mutation).|S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		GGAAACCGTAGCTGCCCTGGT	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	80					0	0	0	0	C	7579369	G	C	7579369	3	2	504	1	0	0	0	0	1	0	0	0	16476	962	34	4	984	4	TP53	17	7579369	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	1158	7579369	73615841	163	97557											
CHD3	1107	broad.mit.edu	37	chr17	7793095	7793095	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaaacgcaagaagcgtGtaagtgtcaagaattcctaa	16	7	9	9	3	1	2	1	0	0	2	2	3	2	2	2	0	2	2	2	0	8	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:7793095G>T	ENST00000380358.4	+	2	391		c.e2+1		CHD3_ENST00000570758.1_Splice_Site|CHD3_ENST00000358181.4_Splice_Site|CHD3_ENST00000330494.7_Splice_Site	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAAGAAGCGTGTAAGTGTCAA	0.507													16	33					6.31663e-08	6.59737e-08	1	0	T	7793095	G	T	7793095	5	4	504	1	0	0	0	0	0	0	1	0	3355	1391	48	4	501	4	CHD3	17	7793095	Splice_Site	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	213726	7793095	73402115	164	97558											
DNAH9	1770	broad.mit.edu	37	chr17	11711205	11711205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctaccagatccaggaCttcaaggtaaaaggtcaggc	15	6	11	9	0	2	1	2	0	0	1	3	2	3	2	2	5	1	2	2	5	5	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:11711205C>A	ENST00000262442.3	+	44	8645	c.8577C>A	c.(8575-8577)gaC>gaA	p.D2859E	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2859E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2859	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATCCAGGACTTCAAGGTAA	0.557													5	32					0.014758	0.0150135	1	0	A	11711205	C	A	11711205	3	1	504	1	0	0	0	0	1	0	0	0	4644	564	20	4	8751	4	DNAH9	17	11711205	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	3918110	11711205	69484005	165	97559											
EFTUD2	9343	broad.mit.edu	37	chr17	42940217	42940217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcacccggccaaaggcgtGaaactggactccatcatctg	11	6	10	14	2	2	1	1	1	1	0	3	2	3	2	3	3	2	1	3	3	2	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:42940217G>A	ENST00000426333.2	-	16	1768	c.1471C>T	c.(1471-1473)Cac>Tac	p.H491Y	EFTUD2_ENST00000402521.3_Missense_Mutation_p.H456Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H481Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H491Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	491						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAAAGGCGTGAAACTGGACT	0.562													16	43					0	0	0	0	A	42940217	G	A	42940217	3	1	504	1	0	0	0	0	1	0	0	0	4997	1290	45	2	1499	2	EFTUD2	17	42940217	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	31229012	42940217	38254993	166	97560											
CACNA1G	8913	broad.mit.edu	37	chr17	48704104	48704104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctgacccagcagacctgGacccctgagtcctgccccac	7	6	8	20	0	1	3	0	2	1	1	2	4	2	4	8	1	2	1	8	1	0	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:48704104G>A	ENST00000352832.5	+	34	7117	c.6745G>A	c.(6745-6747)Gac>Aac	p.D2249N	CACNA1G_ENST00000514079.1_Missense_Mutation_p.D2290N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D2204N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D2260N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D2297N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D2231N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D2242N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D2265N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D2272N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D2276N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D2305N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D2365N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D2170N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D2376N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D2286N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D2320N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D2313N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D2283N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D2226N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D2331N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D2249N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D2238N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D2258N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D2193N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D2342N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2376					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCAGACCTGGACCCCTGAGT	0.572											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	87					0	0	0	0	A	48704104	G	A	48704104	3	1	504	1	0	0	0	0	1	0	0	0	2569	1174	41	2	7543	2	CACNA1G	17	48704104	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	5763887	48704104	32491106	167	97561											
PRR11	55771	broad.mit.edu	37	chr17	57262426	57262426	+	Frame_Shift_Del	DEL	C	C	-																															ttcctacagagtcggtatttCttcaatagatatatctcaaa																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:57262426delC	ENST00000262293.4	+	3	452	c.140delC	c.(139-141)ttfs	p.S48fs		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	48										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTCGGTATTTCTTCAATAGAT	0.378													7	133	---	---	---	---					-	57262426	C	-	57262426	7	5	504	1	0	1	0	1	0	0	0	0	12663	913	32	0	146	0	PRR11	17	57262426	Frame_Shift_Del	DEL	C	TCGA-UF-A7JO-01A-11D-A34J-08	8558322	57262426	23932784	168	97562											
SCN4A	6329	broad.mit.edu	37	chr17	62026810	62026810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctcctctgcctgctcctCagggtcctcctcggggggct	1	12	12	16	1	3	0	1	0	2	0	8	0	6	0	5	4	2	3	5	4	0	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:62026810C>T	ENST00000578147.1	-	15	3008	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	SCN4A_ENST00000435607.1_Missense_Mutation_p.E978K			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	978					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCCTGCTCCTCAGGGTCCTCC	0.652													4	31					0	0	0	0	T	62026810	C	T	62026810	3	4	504	1	0	0	0	0	1	0	0	0	14007	835	29	2	2618	2	SCN4A	17	62026810	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	4764384	62026810	19168400	169	97563											
EVPL	2125	broad.mit.edu	37	chr17	74005808	74005808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcttggtcctctcctcctCgaggaggctcctcagcctgg	3	12	11	15	1	3	0	1	0	2	0	8	2	6	1	5	4	1	2	5	4	0	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:74005808C>T	ENST00000301607.3	-	22	3731	c.3478G>A	c.(3478-3480)Gag>Aag	p.E1160K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1182K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1160	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCTCCTCCTCGAGGAGGCTC	0.622													8	56					0	0	0	0	T	74005808	C	T	74005808	3	4	504	1	0	0	0	0	1	0	0	0	5330	893	31	1	2627	1	EVPL	17	74005808	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	11978998	74005808	7189402	170	97564											
STARD6	147323	broad.mit.edu	37	chr18	51851063	51851063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatttcttcttttggtatCatgaatgactattatgatga	10	19	6	6	0	4	4	2	4	2	0	4	4	4	4	0	1	0	1	0	1	4	7			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr18:51851063C>T	ENST00000581310.1	-	9	1035	c.662G>A	c.(661-663)tGa>tAa	p.*221*	STARD6_ENST00000307844.3_Silent_p.*221*|STARD6_ENST00000580990.2_Silent_p.*97*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	0					lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTTTTGGTATCATGAATGACT	0.348													20	86					0	0	0	0	T	51851063	C	T	51851063	2	4	504	1	0	0	0	0	0	0	0	1	15351	840	29	2		2	STARD6	18	51851063	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08		51851063	26226185	171	97565											
SALL3	27164	broad.mit.edu	37	chr18	76752542	76752543	+	Frame_Shift_Del	DEL	GC	GC	-																															ggtggcgcagttctcgcaggGcgcgcgcgcggcaggcggct																										TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr18:76752542_76752543delGC	ENST00000536229.3	+	1	861_862	c.152_153delGC	c.(151-153)gfs	p.G51fs	SALL3_ENST00000575389.2_Frame_Shift_Del_p.G184fs|SALL3_ENST00000537592.2_Frame_Shift_Del_p.G184fs			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G184G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TTCTCGCAGGGCGCGCGCGCGG	0.728													3	5	---	---	---	---					-	76752543	GC	-	76752542	7	5	504	1	0	1	0	1	0	0	0	0	13897	1203	42	0	557	0	SALL3	18	76752542	Frame_Shift_Del	DEL	GC	TCGA-UF-A7JO-01A-11D-A34J-08	24901479	76752542	1324706	172	97566											
MED16	10025	broad.mit.edu	37	chr19	879973	879973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccaccagggccagtgaCgtccacgatagctgcatagc	10	6	10	15	2	0	1	0	1	0	0	2	2	2	1	5	1	3	2	5	1	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:879973C>T	ENST00000312090.6	-	8	1467	c.1317G>A	c.(1315-1317)acG>acA	p.T439T	MED16_ENST00000269814.4_Silent_p.T439T|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.T439T|MED16_ENST00000325464.1_Silent_p.T439T|MED16_ENST00000589119.1_Silent_p.T439T			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	439					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCAGTGACGTCCACGATA	0.692													5	11					0	0	0	0	T	879973	C	T	879973	2	4	504	1	0	0	0	0	0	0	0	1	9503	523	19	1		1	MED16	19	879973	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08		879973	58249010	173	97567											
CHAF1A	10036	broad.mit.edu	37	chr19	4423824	4423824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattaaagcagagaaggccGaaatcacgaggttcttccag	14	7	11	9	2	2	1	1	0	1	1	3	4	3	1	2	2	1	3	2	2	4	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:4423824G>A	ENST00000301280.5	+	7	1431	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	444	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGAAGGCCGAAATCACGAG	0.498								Chromatin Structure					4	94					0	0	0	0	A	4423824	G	A	4423824	3	1	504	1	0	0	0	0	1	0	0	0	3340	1059	37	1	1356	1	CHAF1A	19	4423824	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	3543851	4423824	54705159	174	97568											
PLIN4	729359	broad.mit.edu	37	chr19	4511710	4511710	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtcaggacagactttgtAgtgtccaggcccccttggat	8	10	11	12	0	1	1	1	0	0	1	2	3	2	3	4	3	0	1	4	3	1	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:4511710A>G	ENST00000301286.3	-	3	2219	c.2220T>C	c.(2218-2220)acT>acC	p.T740T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	740	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				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						CAGACTTTGTAGTGTCCAGGC	0.587													31	302					0	0	0	0	G	4511710	A	G	4511710	2	3	504	1	0	0	0	0	0	0	0	1	12164	407	15	5		5	PLIN4	19	4511710	Silent	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	87886	4511710	54617273	175	97569											
MUC16	94025	broad.mit.edu	37	chr19	8993422	8993422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtaggggcccagctcagtGatgctgtgggtcagctggct	5	10	17	9	0	2	1	2	1	0	0	2	1	2	1	1	4	3	5	1	4	1	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:8993422G>A	ENST00000397910.4	-	66	41870	c.41667C>T	c.(41665-41667)atC>atT	p.I13889I	MUC16_ENST00000380951.5_Silent_p.I530I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13892	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGCTCAGTGATGCTGTGGG	0.592													23	172					0	0	0	0	A	8993422	G	A	8993422	2	1	504	1	0	0	0	0	0	0	0	1	10043	1280	45	2		2	MUC16	19	8993422	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	4481712	8993422	50135561	176	97570											
KEAP1	9817	broad.mit.edu	37	chr19	10610554	10610554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatcctccagggtgtagctGaaggtgcggttgccatgctg	6	11	15	9	1	0	2	0	2	0	0	2	2	2	2	3	3	4	4	3	3	2	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:10610554G>A	ENST00000171111.5	-	2	703	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KEAP1_ENST00000393623.2_Silent_p.F52F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGGTGTAGCTGAAGGTGCGGT	0.617													9	112					0	0	0	0	A	10610554	G	A	10610554	2	1	504	1	0	0	0	0	0	0	0	1	8193	1281	45	2		2	KEAP1	19	10610554	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	1617132	10610554	48518429	177	97571											
KEAP1	9817	broad.mit.edu	37	chr19	10610576	10610576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgcggttgccatgctggGagggcgtcacctccgccttg	4	9	16	12	3	1	0	1	0	0	0	2	1	2	1	4	4	3	2	4	4	0	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:10610576G>A	ENST00000171111.5	-	2	681	c.134C>T	c.(133-135)tCc>tTc	p.S45F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S45F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCATGCTGGGAGGGCGTCAC	0.637													7	112					0	0	0	0	A	10610576	G	A	10610576	3	1	504	1	0	0	0	0	1	0	0	0	8193	1174	41	2	1760	2	KEAP1	19	10610576	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	22	10610576	48518407	178	97572											
ZNF763	284390	broad.mit.edu	37	chr19	12089301	12089301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttatttcccattcaggcattCgaagacgcatggtaatgcac	11	12	8	10	2	1	1	1	0	0	1	3	2	2	1	1	2	1	4	1	2	3	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:12089301C>G	ENST00000343949.5	+	4	726	c.571C>G	c.(571-573)Cga>Gga	p.R191G	ZNF763_ENST00000545530.1_Missense_Mutation_p.R66G|ZNF763_ENST00000358987.3_Missense_Mutation_p.R188G|ZNF763_ENST00000590798.1_Missense_Mutation_p.R208G|ZNF763_ENST00000538752.1_Missense_Mutation_p.R208G	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TTCAGGCATTCGAAGACGCAT	0.403													22	166					0	0	0	0	G	12089301	C	G	12089301	3	3	504	1	0	0	0	0	1	0	0	0	18231	876	31	3	585	3	ZNF763	19	12089301	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	1478725	12089301	47039682	179	97573											
PRKACA	5566	broad.mit.edu	37	chr19	14217608	14217608	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcttcatggcatagtggttCccggtctccttgtgtttcac	5	16	9	11	1	4	0	2	0	2	0	6	0	5	0	2	3	0	3	2	3	1	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:14217608C>T	ENST00000308677.4	-	3	397	c.201G>A	c.(199-201)ggG>ggA	p.G67G	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.G59G|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	67	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CATAGTGGTTCCCGGTCTCCT	0.592													6	84					0	0	0	0	T	14217608	C	T	14217608	2	4	504	1	0	0	0	0	0	0	0	1	12577	842	30	2		2	PRKACA	19	14217608	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	2128307	14217608	44911375	180	97574											
OR7A5	26659	broad.mit.edu	37	chr19	14938848	14938848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaagtaacacaaatgtcaGcaaaggacaggttggagagg	16	6	14	5	0	1	1	1	0	0	1	1	4	1	3	0	5	2	3	0	5	4	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:14938848G>A	ENST00000322301.3	-	2	293	c.206C>T	c.(205-207)gCt>gTt	p.A69V	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.A69V			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACAAATGTCAGCAAAGGACAG	0.493													17	143					0	0	0	0	A	14938848	G	A	14938848	3	1	504	1	0	0	0	0	1	0	0	0	11287	971	34	4	757	4	OR7A5	19	14938848	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	721240	14938848	44190135	181	97575											
LSR	51599	broad.mit.edu	37	chr19	35757744	35757744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccctgtccctagaagtcCgcagtggctacaggattcag	8	8	10	15	1	1	1	1	0	0	1	3	2	3	2	5	2	1	2	5	2	3	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:35757744C>T	ENST00000602122.1	+	7	1589	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	LSR_ENST00000354900.3_Missense_Mutation_p.R369C|LSR_ENST00000361790.3_Missense_Mutation_p.R388C|LSR_ENST00000347609.4_Missense_Mutation_p.R330C|LSR_ENST00000360798.3_Missense_Mutation_p.R320C|LSR_ENST00000427250.1_Missense_Mutation_p.R232C			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	388					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTAGAAGTCCGCAGTGGCTA	0.602													6	11					0	0	0	0	T	35757744	C	T	35757744	3	4	504	1	0	0	0	0	1	0	0	0	9128	652	23	1	1192	1	LSR	19	35757744	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	20818896	35757744	23371239	182	97576											
FFAR1	2864	broad.mit.edu	37	chr19	35842961	35842961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggtcaacggctctccggtCtgcctggaggcctgggaccc	4	7	14	16	3	3	0	1	0	2	0	4	2	3	2	5	6	2	1	5	6	1	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:35842961C>T	ENST00000246553.2	+	1	517	c.507C>T	c.(505-507)gtC>gtT	p.V169V		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	169					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCTCTCCGGTCTGCCTGGAGG	0.647													15	37					0	0	0	0	T	35842961	C	T	35842961	2	4	504	1	0	0	0	0	0	0	0	1	5872	900	32	2		2	FFAR1	19	35842961	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	85217	35842961	23286022	183	97577											
ERF	2077	broad.mit.edu	37	chr19	42754072	42754072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccccttggtcttgtgcaGaatgcgcttgttatagtaat	7	17	9	8	1	1	1	0	0	1	1	2	1	2	1	2	1	2	4	2	1	4	7			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:42754072G>A	ENST00000222329.4	-	3	437	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	ERF_ENST00000440177.2_Silent_p.L19L|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	94					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTCTTGTGCAGAATGCGCTTG	0.473													34	182					0	0	0	0	A	42754072	G	A	42754072	2	1	504	1	0	0	0	0	0	0	0	1	5259	933	33	2		2	ERF	19	42754072	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	6911111	42754072	16374911	184	97578											
CARD8	22900	broad.mit.edu	37	chr19	48715113	48715113	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgccgtgtcttttcctgctCcaccagctccttctcattct	3	16	5	17	1	3	0	1	0	3	0	7	0	6	0	5	0	3	2	5	0	0	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:48715113C>G	ENST00000391898.3	-	11	1510	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	CARD8_ENST00000520153.1_Missense_Mutation_p.E440Q|CARD8_ENST00000520015.1_3'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.E440Q|CARD8_ENST00000359009.4_Missense_Mutation_p.E384Q|CARD8_ENST00000357778.5_Intron|CTC-453G23.8_ENST00000595201.1_RNA|CARD8_ENST00000521613.1_Missense_Mutation_p.E440Q|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000519940.1_Missense_Mutation_p.E490Q	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	384					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TTTTCCTGCTCCACCAGCTCC	0.542													19	222					0	0	0	0	G	48715113	C	G	48715113	3	3	504	1	0	0	0	0	1	0	0	0	2676	864	30	2	149	2	CARD8	19	48715113	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	5961041	48715113	10413870	185	97579											
SIGLEC6	946	broad.mit.edu	37	chr19	52034457	52034457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagatgtataaccgtatttCatccatttggacttcaaccg	12	13	7	9	2	2	1	2	0	0	1	3	3	3	2	3	1	2	2	3	1	5	6			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:52034457C>T	ENST00000346477.3	-	2	452	c.384G>A	c.(382-384)atG>atA	p.M128I	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.M128I|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.M92I|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.M128I|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.M128I|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.M128I	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	128					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AACCGTATTTCATCCATTTGG	0.537													32	123					0	0	0	0	T	52034457	C	T	52034457	3	4	504	1	0	0	0	0	1	0	0	0	14400	826	29	2	1038	2	SIGLEC6	19	52034457	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	3319344	52034457	7094526	186	97580											
GP6	51206	broad.mit.edu	37	chr19	55525965	55525965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttagagatccgtctggagCccatattagagaggttgaag	11	10	12	8	1	1	3	0	1	1	2	2	6	2	4	3	2	1	1	3	2	4	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:55525965C>T	ENST00000310373.3	-	8	1375	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_3'UTR|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	68					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCGTCTGGAGCCCATATTAGA	0.542													6	28					0	0	0	0	T	55525965	C	T	55525965	3	4	504	1	0	0	0	0	1	0	0	0	6633	739	26	4	518	4	GP6	19	55525965	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	3491508	55525965	3603018	187	97581											
DTD1	92675	broad.mit.edu	37	chr20	18576734	18576734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatggacaaacagtacgaGattctgtgtgtcagccagtt	11	11	12	7	1	2	2	1	1	1	1	2	4	2	3	1	1	3	2	1	1	2	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr20:18576734G>C	ENST00000377452.3	+	3	399	c.219G>C	c.(217-219)gaG>gaC	p.E73D	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	73					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						AACAGTACGAGATTCTGTGTG	0.502													6	80					0	0	0	0	C	18576734	G	C	18576734	3	2	504	1	0	0	0	0	1	0	0	0	4822	933	33	2	229	2	DTD1	20	18576734	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		18576734	44448786	188	97582											
PLCG1	5335	broad.mit.edu	37	chr20	39794930	39794930	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcgtctttgactccctCtatgacctcatcacgcacta	9	12	4	16	2	4	2	2	2	2	0	6	2	5	2	3	0	1	1	3	0	3	3	rs139798242	by1000genomes	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr20:39794930C>G	ENST00000373272.2	+	17	2301	c.1896C>G	c.(1894-1896)ctC>ctG	p.L632L	PLCG1_ENST00000244007.3_Silent_p.L632L|PLCG1_ENST00000373271.1_Silent_p.L632L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	632	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TTGACTCCCTCTATGACCTCA	0.567													13	63					0	0	0	0	G	39794930	C	G	39794930	2	3	504	1	0	0	0	0	0	0	0	1	12107	900	32	2		2	PLCG1	20	39794930	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	21218196	39794930	23230590	189	97583											
SEMG1	6406	broad.mit.edu	37	chr20	43836061	43836061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttcccaatttccacaCggacaaaagggccagcacta	14	8	7	12	1	0	0	0	0	0	0	2	2	2	1	3	2	1	1	3	2	5	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr20:43836061C>T	ENST00000372781.3	+	2	180	c.123C>T	c.(121-123)caC>caT	p.H41H	SEMG1_ENST00000244069.6_Silent_p.H41H	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATTTCCACACGGACAAAAGG	0.393													24	126					0	0	0	0	T	43836061	C	T	43836061	2	4	504	1	0	0	0	0	0	0	0	1	14131	535	19	1		1	SEMG1	20	43836061	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	4041131	43836061	19189459	190	97584											
TMPRSS15	5651	broad.mit.edu	37	chr21	19737462	19737462	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcttgtattaccgtatGatccactggcagacaacact	13	11	7	10	1	1	3	0	1	1	2	2	3	2	3	2	1	2	3	2	1	5	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr21:19737462G>T	ENST00000284885.3	-	7	801	c.768C>A	c.(766-768)atC>atA	p.I256I		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	256	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATTACCGTATGATCCACTGGC	0.353													9	103					7.48243e-07	7.74613e-07	1	0	T	19737462	G	T	19737462	2	4	504	1	0	0	0	0	0	0	0	1	16340	1280	45	2		2	TMPRSS15	21	19737462	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		19737462	28392433	191	97585											
GRIK1	2897	broad.mit.edu	37	chr21	31066223	31066223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaatagttacctctccgcGaggcttcaaaactatcaaaa	16	9	6	10	2	3	0	2	0	1	0	4	2	3	0	2	1	2	2	2	1	9	4			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr21:31066223G>A	ENST00000399914.1	-	2	799	c.278C>T	c.(277-279)tCg>tTg	p.S93L	GRIK1_ENST00000399907.1_Missense_Mutation_p.S93L|GRIK1_ENST00000535441.1_Missense_Mutation_p.S93L|GRIK1_ENST00000399913.1_Missense_Mutation_p.S93L|GRIK1_ENST00000399909.1_Missense_Mutation_p.S93L|GRIK1_ENST00000389125.3_Missense_Mutation_p.S93L|GRIK1_ENST00000327783.4_Missense_Mutation_p.S93L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Missense_Mutation_p.S93L|GRIK1_ENST00000389124.2_Missense_Mutation_p.S93L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	93					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ACCTCTCCGCGAGGCTTCAAA	0.423													22	86					0	0	0	0	A	31066223	G	A	31066223	3	1	504	1	0	0	0	0	1	0	0	0	6823	1059	37	1	2702	1	GRIK1	21	31066223	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	11328761	31066223	17063672	192	97586											
COL6A2	1292	broad.mit.edu	37	chr21	47535818	47535818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgggtgagccgggagaGcctggccagaagggaagaca	13	3	17	8	1	0	4	0	1	0	3	0	6	0	5	3	4	3	0	3	4	3	0			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr21:47535818G>A	ENST00000300527.4	+	6	938	c.834G>A	c.(832-834)gaG>gaA	p.E278E	COL6A2_ENST00000409416.1_Silent_p.E278E|COL6A2_ENST00000310645.5_Silent_p.E278E|COL6A2_ENST00000397763.1_Silent_p.E278E|COL6A2_ENST00000357838.4_Silent_p.E278E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	278	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGCCGGGAGAGCCTGGCCAGA	0.657													9	33					0	0	0	0	A	47535818	G	A	47535818	2	1	504	1	0	0	0	0	0	0	0	1	3730	962	34	4		4	COL6A2	21	47535818	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	16469595	47535818	594077	193	97587											
GGT1	2678	broad.mit.edu	37	chr22	25007085	25007085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctgggcctgctggccGtggtcctggtgctggtcatt	1	13	17	10	1	1	0	1	0	0	0	2	0	2	0	3	6	3	3	3	6	0	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr22:25007085G>A	ENST00000400382.1	+	5	792	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	GGT1_ENST00000400380.1_Missense_Mutation_p.V13M|GGT1_ENST00000406383.2_Missense_Mutation_p.V13M|GGT1_ENST00000248923.4_Missense_Mutation_p.V13M|GGT1_ENST00000400383.1_Missense_Mutation_p.V13M			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	13					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCTGCTGGCCGTGGTCCTGGT	0.627													4	14					0	0	0	0	A	25007085	G	A	25007085	3	1	504	1	0	0	0	0	1	0	0	0	6412	1145	40	1	39	1	GGT1	22	25007085	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		25007085	26297481	194	97588											
LGALS2	3957	broad.mit.edu	37	chr22	37967898	37967898	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctgtgatcttcagggttGaccccggcttcatgtccatg	5	13	11	12	1	3	2	2	2	1	0	4	2	4	2	4	2	1	2	4	2	0	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr22:37967898G>C	ENST00000215886.4	-	2	221	c.47C>G	c.(46-48)tCa>tGa	p.S16*		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	16	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					CTTCAGGGTTGACCCCGGCTT	0.572													18	74					0	0	0	0	C	37967898	G	C	37967898	4	2	504	1	0	0	0	0	0	1	0	0	8795	1294	45	2	363	2	LGALS2	22	37967898	Nonsense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	12960813	37967898	13336668	195	97589											
TCF20	6942	broad.mit.edu	37	chr22	42605836	42605836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagtggtgggcacggaggGcttcgagtccaaaacagtct	10	8	15	8	2	1	1	0	1	1	0	3	3	2	2	1	4	1	2	1	4	3	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr22:42605836G>A	ENST00000359486.3	-	1	5612	c.5476C>T	c.(5476-5478)Ccc>Tcc	p.P1826S	TCF20_ENST00000404876.1_Missense_Mutation_p.P127S|TCF20_ENST00000335626.4_Missense_Mutation_p.P1826S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCACGGAGGGCTTCGAGTCC	0.542													8	199					0	0	0	0	A	42605836	G	A	42605836	3	1	504	1	0	0	0	0	1	0	0	0	15784	1203	42	4	444	4	TCF20	22	42605836	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	4637938	42605836	8698730	196	97590											
GEMIN8	54960	broad.mit.edu	37	chrX	14027046	14027046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagctcagaacttcagggGgatgaccggccagtacttgg	9	8	14	10	1	2	3	2	2	0	1	2	4	2	4	2	4	3	2	2	4	2	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:14027046G>A	ENST00000380523.4	-	5	1033	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GEMIN8_ENST00000398355.3_Missense_Mutation_p.P239S	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	239					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						AACTTCAGGGGGATGACCGGC	0.557													13	119					0	0	0	0	A	14027046	G	A	14027046	3	1	504	1	0	0	0	0	1	0	0	0	6385	1232	43	4	17	4	GEMIN8	23	14027046	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08		14027046	141243514	197	97591											
ZNF157	7712	broad.mit.edu	37	chrX	47272087	47272087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtgcaagatcatacctCattgctcatcagaaaactca	14	11	5	11	0	6	2	6	0	0	2	6	2	6	2	1	0	4	2	1	0	4	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:47272087C>T	ENST00000377073.3	+	4	701	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	205					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GATCATACCTCATTGCTCATC	0.428													4	37					0	0	0	0	T	47272087	C	T	47272087	2	4	504	1	0	0	0	0	0	0	0	1	17832	813	29	2		2	ZNF157	23	47272087	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	33245041	47272087	107998473	198	97592											
SSX7	280658	broad.mit.edu	37	chrX	52681920	52681920	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctagaactttctgttacCtagtttagtcatggcctcat	9	16	6	10	0	3	1	2	0	1	1	3	1	3	1	3	1	3	2	3	1	6	7	rs141868047		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:52681920C>G	ENST00000298181.5	-	3	342	c.184_splice	c.e3+1	p.G62_splice		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	62	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTTCTGTTACCTAGTTTAGTC	0.413													16	169					0	0	0	0	G	52681920	C	G	52681920	5	3	504	1	0	0	0	0	0	0	1	0	15299	695	24	4	402	4	SSX7	23	52681920	Splice_Site	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	5409833	52681920	102588640	199	97593											
IQSEC2	23096	broad.mit.edu	37	chrX	53268428	53268428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgagggggaaagactgacGgaaactgtacgtcaccaaga	15	4	13	9	3	1	3	1	1	0	2	1	6	1	5	1	3	2	1	1	3	4	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:53268428G>A	ENST00000396435.3	-	11	3264	c.3064C>T	c.(3064-3066)Cgt>Tgt	p.R1022C	IQSEC2_ENST00000375368.5_Missense_Mutation_p.R1012C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R817C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1012	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AAAGACTGACGGAAACTGTAC	0.507											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	62					0	0	0	0	A	53268428	G	A	53268428	3	1	504	1	0	0	0	0	1	0	0	0	7871	1116	39	1	1422	1	IQSEC2	23	53268428	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	586508	53268428	102002132	200	97594											
UBQLN2	29978	broad.mit.edu	37	chrX	56590909	56590909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgaatcccgatctgatGaggcagctcattatggctaa	10	12	9	10	2	2	2	1	2	1	0	4	4	3	2	1	2	1	3	1	2	3	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:56590909G>T	ENST00000338222.5	+	1	884	c.603G>T	c.(601-603)atG>atT	p.M201I		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	201						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CCGATCTGATGAGGCAGCTCA	0.468													12	81					7.03913e-09	7.41791e-09	1	0	T	56590909	G	T	56590909	3	4	504	1	0	0	0	0	1	0	0	0	16993	1290	45	2	605	2	UBQLN2	23	56590909	Missense_Mutation	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	3322481	56590909	98679651	201	97595											
SPIN4	139886	broad.mit.edu	37	chrX	62570071	62570071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttctcttggacccgtcatCtttggcatgctccacctgct	5	14	8	14	1	3	0	1	0	2	0	5	1	4	1	3	2	2	4	3	2	0	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:62570071C>G	ENST00000374884.2	-	1	1152	c.574G>C	c.(574-576)Gat>Cat	p.D192H	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000335144.3_Missense_Mutation_p.D210H			Q56A73	SPIN4_HUMAN	spindlin family, member 4	210					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GACCCGTCATCTTTGGCATGC	0.448													14	109					0	0	0	0	G	62570071	C	G	62570071	3	3	504	1	0	0	0	0	1	0	0	0	15146	913	32	2	125	2	SPIN4	23	62570071	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	5979162	62570071	92700489	202	97596											
VSIG4	11326	broad.mit.edu	37	chrX	65252479	65252479	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgttgcttataccaaatAtaactgatgggaggagaacc	13	11	10	7	0	1	2	0	1	1	1	1	4	1	3	2	2	4	2	2	2	6	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:65252479A>G	ENST00000455586.2	-	3	651	c.525T>C	c.(523-525)taT>taC	p.Y175Y	VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Silent_p.Y175Y	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	175	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATACCAAATATAACTGATGG	0.512													6	66					0	0	0	0	G	65252479	A	G	65252479	2	3	504	1	0	0	0	0	0	0	0	1	17321	456	16	5		5	VSIG4	23	65252479	Silent	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	2682408	65252479	90018081	203	97597											
NLGN3	54413	broad.mit.edu	37	chrX	70375176	70375176	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgccagttatggcaatgtCatcgtcatcaccctcaacta	10	11	6	14	2	4	0	4	0	0	0	6	0	4	0	2	1	1	2	2	1	4	2			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:70375176C>G	ENST00000374051.3	+	4	952	c.630C>G	c.(628-630)gtC>gtG	p.V210V	NLGN3_ENST00000536169.1_Silent_p.V190V|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.V230V	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	230					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.V230V(1)|p.V210V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATGGCAATGTCATCGTCATCA	0.542													6	105					0	0	0	0	G	70375176	C	G	70375176	2	3	504	1	0	0	0	0	0	0	0	1	10533	813	29	2		2	NLGN3	23	70375176	Silent	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	5122697	70375176	84895384	204	97598											
TAF1	6872	broad.mit.edu	37	chrX	70603878	70603878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcgcacacctcaggacCtcacaggcaaagatggtgat	12	8	10	11	1	2	2	2	1	0	1	2	3	2	3	2	3	1	2	2	3	2	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:70603878C>A	ENST00000449580.1	+	13	2062	c.2011C>A	c.(2011-2013)Ctc>Atc	p.L671I	TAF1_ENST00000276072.3_Missense_Mutation_p.L692I|TAF1_ENST00000373790.4_Missense_Mutation_p.L671I|TAF1_ENST00000423759.1_Missense_Mutation_p.L692I			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	671					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACCTCAGGACCTCACAGGCAA	0.428													11	128					0.000673444	0.000688084	1	0	A	70603878	C	A	70603878	3	1	504	1	0	0	0	0	1	0	0	0	15604	681	24	4	2124	4	TAF1	23	70603878	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	228702	70603878	84666682	205	97599											
TAF1	6872	broad.mit.edu	37	chrX	70613190	70613190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagtgattgatgtggtgCgcacaatgtcaacagaacag	13	8	14	6	1	1	3	1	2	0	1	1	4	1	4	0	2	3	1	0	2	4	1			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:70613190C>T	ENST00000449580.1	+	21	3139	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	TAF1_ENST00000276072.3_Missense_Mutation_p.R1051C|TAF1_ENST00000373790.4_Missense_Mutation_p.R1030C|TAF1_ENST00000423759.1_Missense_Mutation_p.R1051C			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1030					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGATGTGGTGCGCACAATGTC	0.458													24	91					0	0	0	0	T	70613190	C	T	70613190	3	4	504	1	0	0	0	0	1	0	0	0	15604	768	27	1	3233	1	TAF1	23	70613190	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	9312	70613190	84657370	206	97600											
TRMT2B	79979	broad.mit.edu	37	chrX	100274273	100274273	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatagctgttcatccttacGcagtccggcacgggctgggt	8	10	12	11	3	1	0	1	0	0	0	3	0	3	0	2	3	2	5	2	3	3	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:100274273G>A	ENST00000338687.7	-	11	1958	c.1153_splice	c.e11+1	p.H385_splice	TRMT2B_ENST00000545398.1_Splice_Site_p.H430_splice|TRMT2B_ENST00000372931.5_Splice_Site_p.H430_splice|TRMT2B_ENST00000372935.1_Splice_Site_p.H430_splice|TRMT2B_ENST00000372939.1_Splice_Site_p.H385_splice|TRMT2B_ENST00000372936.3_Splice_Site_p.H430_splice			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	430							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCATCCTTACGCAGTCCGGCA	0.498													10	82					0	0	0	0	A	100274273	G	A	100274273	5	1	504	1	0	0	0	0	0	0	1	0	16661	1101	38	1	238	1	TRMT2B	23	100274273	Splice_Site	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	29661083	100274273	54996287	207	97601											
SEPT6	23157	broad.mit.edu	37	chrX	118787004	118787004	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccacgataggcttgtagCtaaaagggagagcagggaca	14	7	13	7	1	0	1	0	0	0	1	1	4	1	2	1	3	2	4	1	3	4	5			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:118787004C>T	ENST00000394610.1	-	4	606		c.e4-1		SEPT6_ENST00000394616.4_Splice_Site|SEPT6_ENST00000394617.2_Splice_Site|SEPT6_ENST00000354416.3_Splice_Site|SEPT6_ENST00000489216.1_Splice_Site|SEPT6_ENST00000343984.5_Splice_Site|SEPT6_ENST00000360156.7_Splice_Site|SEPT6_ENST00000354228.4_Splice_Site	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6						cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						AGGCTTGTAGCTAAAAGGGAG	0.483			T	MLL	AML								15	76					0	0	0	0	T	118787004	C	T	118787004	5	4	504	1	0	0	0	0	0	0	1	0	14155	811	28	4	1013	4	SEPT6	23	118787004	Splice_Site	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	18512731	118787004	36483556	208	97602											
USP26	83844	broad.mit.edu	37	chrX	132159687	132159687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcatatcatcgtaagtgaaCcagatctgtttctcaaagtc	12	12	7	10	2	3	2	2	1	2	1	6	2	3	2	1	0	1	3	1	0	4	3			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:132159687C>A	ENST00000511190.1	-	6	3031	c.2562G>T	c.(2560-2562)tgG>tgT	p.W854C	USP26_ENST00000370832.1_Missense_Mutation_p.W854C|USP26_ENST00000406273.1_Missense_Mutation_p.W854C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	854					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CGTAAGTGAACCAGATCTGTT	0.453													45	119					1.23713e-20	1.35853e-20	1	0	A	132159687	C	A	132159687	3	1	504	1	0	0	0	0	1	0	0	0	17153	508	18	4	182	4	USP26	23	132159687	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	13372683	132159687	23110873	209	97603											
SLITRK4	139065	broad.mit.edu	37	chrX	142718733	142718733	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaattattttggaaattGaggtgataaaaattagacca	20	12	7	2	0	0	3	0	2	0	1	0	4	0	4	1	2	0	0	1	2	9	6			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:142718733G>C	ENST00000381779.4	-	2	417	c.192C>G	c.(190-192)ctC>ctG	p.L64L	SLITRK4_ENST00000356928.1_Silent_p.L64L|SLITRK4_ENST00000338017.4_Silent_p.L64L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	64						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGAAATTGAGGTGATAAA	0.368													24	126					0	0	0	0	C	142718733	G	C	142718733	2	2	504	1	0	0	0	0	0	0	0	1	14833	1277	45	2		2	SLITRK4	23	142718733	Silent	SNP	G	TCGA-UF-A7JO-01A-11D-A34J-08	10559046	142718733	12551827	210	97604											
GABRE	2564	broad.mit.edu	37	chrX	151128415	151128415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagcttgaaattttccCacttgtagatcatctcattc	10	17	4	10	0	3	2	3	1	1	1	6	2	4	2	1	0	1	2	1	0	3	7			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:151128415C>G	ENST00000370325.1	-	6	733	c.680G>C	c.(679-681)tGg>tCg	p.W227S	GABRE_ENST00000393914.3_Missense_Mutation_p.W34S|GABRE_ENST00000370328.3_Missense_Mutation_p.W227S			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	227					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTTTCCCACTTGTAGAT	0.413													30	105					0	0	0	0	G	151128415	C	G	151128415	3	3	504	1	0	0	0	0	1	0	0	0	6218	595	21	4	856	4	GABRE	23	151128415	Missense_Mutation	SNP	C	TCGA-UF-A7JO-01A-11D-A34J-08	8409682	151128415	4142145	211	97605											
MAGEA3	4102	broad.mit.edu	37	chrX	151935644	151935644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggtggcaaagatgtacaAgtggccgatggggtccactt	10	8	15	8	1	0	1	0	0	0	1	1	2	1	1	2	5	1	3	2	5	3	2	rs35845634	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:151935644A>C	ENST00000393902.3	-	3	1090	c.523T>G	c.(523-525)Ttg>Gtg	p.L175V	MAGEA3_ENST00000370278.3_Missense_Mutation_p.L175V			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	175	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATGTACAAGTGGCCGATG	0.532													30	180					0	0	0	0	C	151935644	A	C	151935644	3	2	504	1	0	0	0	0	1	0	0	0	9234	69	3	5	425	5	MAGEA3	23	151935644	Missense_Mutation	SNP	A	TCGA-UF-A7JO-01A-11D-A34J-08	807229	151935644	3334916	212	97606											
DVL1	1855	broad.mit.edu	37	chr1	1271768	1271768	+	Silent	SNP	G	G	A																															gccggacgctctcgccagctGctccccaccccactcggtgc																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1271768G>A	ENST00000378888.5	-	15	2126	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	DVL1_ENST00000378891.5_Silent_p.S589S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	614					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCGCCAGCTGCTCCCCACCC	0.766													10	24					0	0	0	0	A	1271768	G	A	1271768	2	1	505	1	0	0	0	0	0	0	0	1	4871	1310	46	4		4	DVL1	1	1271768	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08		1271768	247978853	1	97607	1164	2									
DVL1	1855	broad.mit.edu	37	chr1	1271769	1271769	+	Missense_Mutation	SNP	C	C	A																															ccggacgctctcgccagctgCtccccaccccactcggtgcc																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1271769C>A	ENST00000378888.5	-	15	2125	c.1841G>T	c.(1840-1842)aGc>aTc	p.S614I	DVL1_ENST00000378891.5_Missense_Mutation_p.S589I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	614					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGCCAGCTGCTCCCCACCCC	0.766													10	24					7.03913e-09	7.47907e-09	1	0	A	1271769	C	A	1271769	3	1	505	1	0	0	0	0	1	0	0	0	4871	797	28	4	250	4	DVL1	1	1271769	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	1	1271769	247978852	2	97608	1164	2									
VWA1	64856	broad.mit.edu	37	chr1	1372485	1372485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcagtcggccatacacCgagttccccttcggccagca	7	7	12	15	3	0	0	0	0	0	0	3	1	1	0	5	3	2	3	5	3	1	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1372485C>T	ENST00000476993.1	+	2	330	c.252C>T	c.(250-252)acC>acT	p.T84T	VWA1_ENST00000404702.3_Intron|VWA1_ENST00000338660.5_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	84	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCATACACCGAGTTCCCCT	0.701													12	24					0	0	0	0	T	1372485	C	T	1372485	2	4	505	1	0	0	0	0	0	0	0	1	17334	639	23	1		1	VWA1	1	1372485	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	100716	1372485	247878136	3	97609											
EXOSC10	5394	broad.mit.edu	37	chr1	11141274	11141274	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcatcccgggcgtagctGagcatctcctcgggcagagg	6	8	15	12	3	2	2	1	1	1	1	5	2	3	2	2	3	2	4	2	3	1	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:11141274G>T	ENST00000544779.1	-	11	1307	c.1302C>A	c.(1300-1302)ctC>ctA	p.L434L	EXOSC10_ENST00000376936.4_Silent_p.L434L|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Silent_p.L434L			Q01780	EXOSX_HUMAN	exosome component 10	434					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGGCGTAGCTGAGCATCTCCT	0.542													33	78					1.08052e-11	1.18509e-11	1	0	T	11141274	G	T	11141274	2	4	505	1	0	0	0	0	0	0	0	1	5351	1277	45	2		2	EXOSC10	1	11141274	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	9768789	11141274	238109347	4	97610											
ACOT11	26027	broad.mit.edu	37	chr1	55065012	55065012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctgaaggccattgaaatgTtccacttccgaggcccgtcc	8	9	10	14	3	0	2	0	2	0	0	3	3	3	2	5	2	0	2	5	2	2	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:55065012T>C	ENST00000371316.3	+	8	890	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	270	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CATTGAAATGTTCCACTTCCG	0.612													52	116					0	0	0	0	C	55065012	T	C	55065012	3	2	505	1	0	0	0	0	1	0	0	0	149	1725	60	5	838	5	ACOT11	1	55065012	Missense_Mutation	SNP	T	TCGA-UF-A7JS-01A-11D-A34J-08	43923738	55065012	194185609	5	97611											
ROR1	4919	broad.mit.edu	37	chr1	64643994	64643994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggactctcaagtcacacaaGctctactactccttcagggg	10	9	9	13	0	4	0	3	0	2	0	6	1	5	1	1	3	3	1	1	3	4	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:64643994G>A	ENST00000371079.1	+	9	2645	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	ROR1_ENST00000545203.1_Missense_Mutation_p.S208N	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	757	Ser/Thr-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AGTCACACAAGCTCTACTACT	0.493													23	74					0	0	0	0	A	64643994	G	A	64643994	3	1	505	1	0	0	0	0	1	0	0	0	13611	971	34	4	2312	4	ROR1	1	64643994	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	9578982	64643994	184606627	6	97612											
IKBKE	9641	broad.mit.edu	37	chr1	206649571	206649571	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcattgtgcatcgcgacAtcaagccggggaacatcatg	11	7	12	11	4	2	0	2	0	0	0	3	2	2	1	1	3	3	2	1	3	2	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:206649571A>C	ENST00000367120.3	+	6	779	c.406A>C	c.(406-408)Atc>Ctc	p.I136L	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.I51L	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	136	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCATCGCGACATCAAGCCGGG	0.622													14	64					0	0	0	0	C	206649571	A	C	206649571	3	2	505	1	0	0	0	0	1	0	0	0	7665	217	8	5	420	5	IKBKE	1	206649571	Missense_Mutation	SNP	A	TCGA-UF-A7JS-01A-11D-A34J-08	142005577	206649571	42601050	7	97613											
PLXNA2	5362	broad.mit.edu	37	chr1	208219239	208219239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctaccttcagaatgatgggcGatcctggcttttgatccaag	9	12	10	10	1	1	3	1	2	0	1	3	4	3	3	3	2	1	1	3	2	3	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:208219239G>C	ENST00000367033.3	-	18	4236	c.3479C>G	c.(3478-3480)tCg>tGg	p.S1160W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1160	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AATGATGGGCGATCCTGGCTT	0.542													30	125					0	0	0	0	C	208219239	G	C	208219239	3	2	505	1	0	0	0	0	1	0	0	0	12192	1059	37	3	2265	3	PLXNA2	1	208219239	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	1569668	208219239	41031382	8	97614											
USH2A	7399	broad.mit.edu	37	chr1	216251460	216251460	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacaaatgttgataagagTtcagcagttcctgtgggatt	13	12	10	6	0	1	2	1	1	0	1	2	3	2	3	1	1	2	4	1	1	3	5			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:216251460T>A	ENST00000366943.2	-	27	5929	c.5543A>T	c.(5542-5544)aAc>aTc	p.N1848I	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.N1848I|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1848	Laminin G-like 2.				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.N1848T(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)		TTGATAAGAGTTCAGCAGTTC	0.463										HNSCC(13;0.011)			81	90					0	0	0	0	A	216251460	T	A	216251460	3	1	505	1	0	0	0	0	1	0	0	0	17132	1725	60	5	10249	5	USH2A	1	216251460	Missense_Mutation	SNP	T	TCGA-UF-A7JS-01A-11D-A34J-08	8032221	216251460	32999161	9	97615											
TMEM182	130827	broad.mit.edu	37	chr2	103414410	103414410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatctgtgcagcccccttCgccagccattttctctacaa	8	12	5	16	1	3	0	1	0	2	0	5	0	3	0	4	0	4	1	4	0	2	4	rs140175654	byFrequency	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:103414410C>T	ENST00000412401.2	+	4	625	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TMEM182_ENST00000409528.1_Silent_p.F44F|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Silent_p.F97F	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	140						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CAGCCCCCTTCGCCAGCCATT	0.517													33	83					0	0	0	0	T	103414410	C	T	103414410	2	4	505	1	0	0	0	0	0	0	0	1	16195	883	31	1		1	TMEM182	2	103414410	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		103414410	139784963	10	97616											
FBLN7	129804	broad.mit.edu	37	chr2	112922711	112922711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgtggtgtgtcttccCaatggcacctggacagggga	8	8	15	10	1	1	0	0	0	1	0	2	2	2	2	2	5	2	2	2	5	1	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:112922711C>T	ENST00000331203.2	+	3	640	c.369C>T	c.(367-369)ccC>ccT	p.P123P	FBLN7_ENST00000409450.3_Silent_p.P123P|FBLN7_ENST00000409903.1_Silent_p.P123P|FBLN7_ENST00000409667.3_Silent_p.P123P|FBLN7_ENST00000472377.1_3'UTR	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	123	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGTGTCTTCCCAATGGCACCT	0.562													28	65					0	0	0	0	T	112922711	C	T	112922711	2	4	505	1	0	0	0	0	0	0	0	1	5746	581	21	4		4	FBLN7	2	112922711	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	9508301	112922711	130276662	11	97617											
ERBB4	2066	broad.mit.edu	37	chr2	212286830	212286830	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcatcaatcatccaacCtggaaatttacacagtgaaa	16	9	6	10	0	3	1	3	1	0	0	4	2	4	2	2	1	3	1	2	1	5	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:212286830C>A	ENST00000342788.4	-	24	3177		c.e24-1		ERBB4_ENST00000436443.1_Splice_Site|ERBB4_ENST00000402597.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCATCCAACCTGGAAATTTA	0.348										TSP Lung(8;0.080)			24	56					1.66031e-10	1.78264e-10	1	0	A	212286830	C	A	212286830	5	1	505	1	0	0	0	0	0	0	1	0	5247	695	24	4	1080	4	ERBB4	2	212286830	Splice_Site	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	99364119	212286830	30912543	12	97618											
MAGI1	9223	broad.mit.edu	37	chr3	65372827	65372827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggatccttactcggacattCtccaaaattcgtggaattga	11	12	8	10	3	1	1	0	1	1	0	5	4	2	4	2	3	1	0	2	3	4	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:65372827C>T	ENST00000330909.8	-	15	2490	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	MAGI1_ENST00000483466.1_Missense_Mutation_p.E831K|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	831	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCGGACATTCTCCAAAATTC	0.438													13	26					0	0	0	0	T	65372827	C	T	65372827	3	4	505	1	0	0	0	0	1	0	0	0	9259	922	32	2	2167	2	MAGI1	3	65372827	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		65372827	132649603	13	97619											
DNAJB8	165721	broad.mit.edu	37	chr3	128181452	128181452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccgacttgagctgccCgtcttcctccacctccacgc	6	9	7	19	3	2	1	1	1	1	0	5	2	5	1	6	0	2	1	6	0	0	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:128181452C>A	ENST00000469083.1	-	2	3194	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W	DNAJB8_ENST00000319153.3_Missense_Mutation_p.G213W			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	213					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TTGAGCTGCCCGTCTTCCTCC	0.617													30	79					9.78306e-22	1.09656e-21	1	0	A	128181452	C	A	128181452	3	1	505	1	0	0	0	0	1	0	0	0	4662	652	23	3	65	3	DNAJB8	3	128181452	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	62808625	128181452	69840978	14	97620											
SI	6476	broad.mit.edu	37	chr3	164716394	164716394	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagtgtcctccccatcGtccactagtaggatacgtgg	9	9	10	13	2	0	0	0	0	0	0	4	1	3	1	5	2	2	1	5	2	4	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:164716394G>A	ENST00000264382.3	-	38	4536	c.4474C>T	c.(4474-4476)Cga>Tga	p.R1492*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1492	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCTCCCCATCGTCCACTAGTA	0.383										HNSCC(35;0.089)			4	132					0	0	0	0	A	164716394	G	A	164716394	4	1	505	1	0	0	0	0	0	1	0	0	14385	1153	40	1	1053	1	SI	3	164716394	Nonsense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	36534942	164716394	33306036	15	97621											
MCF2L2	23101	broad.mit.edu	37	chr3	183029545	183029545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcccctgctttccaaGtaatttcagctcatcctaga	8	14	7	12	0	2	1	2	0	0	1	5	1	5	1	4	1	2	3	4	1	3	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:183029545G>T	ENST00000328913.3	-	8	1066	c.769C>A	c.(769-771)Ctt>Att	p.L257I	MCF2L2_ENST00000447025.2_Missense_Mutation_p.L257I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.L257I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.L257I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	257					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGCTTTCCAAGTAATTTCAGC	0.383													28	75					7.07758e-08	7.4424e-08	1	0	T	183029545	G	T	183029545	3	4	505	1	0	0	0	0	1	0	0	0	9449	1029	36	4	2667	4	MCF2L2	3	183029545	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	18313151	183029545	14992885	16	97622											
EIF4G1	1981	broad.mit.edu	37	chr3	184044414	184044414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagccaagccctcagacGcaggtatggaggcagtgtca	11	5	14	11	1	2	1	2	0	0	1	2	3	2	3	2	4	2	3	2	4	2	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:184044414G>A	ENST00000342981.4	+	21	3739	c.3325G>A	c.(3325-3327)Gca>Aca	p.A1109T	EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1115T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1069T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A945T|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1021T|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1108T|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A912T|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1115T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1068T|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A944T|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A1108T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1022T|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A913T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1115T	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1108					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCTCAGACGCAGGTATGGA	0.592													15	54					0	0	0	0	A	184044414	G	A	184044414	3	1	505	1	0	0	0	0	1	0	0	0	5074	1087	38	1	3400	1	EIF4G1	3	184044414	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	1014869	184044414	13978016	17	97623											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68693217	68693217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaataccagacgtggcaatCcagtcacgaggattagagtt	14	8	11	8	2	1	2	1	0	0	2	2	5	2	3	2	2	1	2	2	2	4	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr4:68693217C>G	ENST00000283916.6	-	8	812	c.714G>C	c.(712-714)tgG>tgC	p.W238C	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.W121C|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	238	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACGTGGCAATCCAGTCACGAG	0.313													21	43					0	0	0	0	G	68693217	C	G	68693217	3	3	505	1	0	0	0	0	1	0	0	0	16335	856	30	2	554	2	TMPRSS11D	4	68693217	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		68693217	122461059	18	97624											
TRIM2	23321	broad.mit.edu	37	chr4	154216657	154216657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgcgggagaacgaccagctgGatttcatcgtggaaaccgag	11	6	14	10	5	1	1	1	0	0	1	2	6	1	3	2	3	3	1	2	3	2	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr4:154216657G>C	ENST00000338700.5	+	6	1044	c.979G>C	c.(979-981)Gat>Cat	p.D327H	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.D300H	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	300						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CGACCAGCTGGATTTCATCGT	0.597													13	32					0	0	0	0	C	154216657	G	C	154216657	3	2	505	1	0	0	0	0	1	0	0	0	16589	1174	41	2	1001	2	TRIM2	4	154216657	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	85523440	154216657	36937619	19	97625											
BTNL3	10917	broad.mit.edu	37	chr5	180432367	180432367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccagagacggctcaccCgaagctctgcgtttctgatc	8	9	11	13	3	3	2	1	1	2	1	5	5	4	3	2	2	2	3	2	2	1	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr5:180432367C>T	ENST00000342868.6	+	8	1080	c.896C>T	c.(895-897)cCg>cTg	p.P299L		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY.				lipid metabolic process	integral to membrane		p.P299L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGGCTCACCCGAAGCTCTGC	0.537													21	78					0	0	0	0	T	180432367	C	T	180432367	3	4	505	1	0	0	0	0	1	0	0	0	1575	652	23	1	926	1	BTNL3	5	180432367	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		180432367	482893	20	97626											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107930	26107930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaaccagcttcttggtcTtggcagaaactgacttttta	12	14	7	8	0	2	2	0	1	2	1	2	2	2	2	1	2	3	2	1	2	4	7			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:26107930T>C	ENST00000338379.4	-	1	434	c.392A>G	c.(391-393)aAg>aGg	p.K131R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	131					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTCTTGGTCTTGGCAGAAAC	0.453													54	124					0	0	0	0	C	26107930	T	C	26107930	3	2	505	1	0	0	0	0	1	0	0	0	7177	1609	56	5	235	5	HIST1H1T	6	26107930	Missense_Mutation	SNP	T	TCGA-UF-A7JS-01A-11D-A34J-08		26107930	145007137	21	97627											
HLA-E	3133	broad.mit.edu	37	chr6	30457630	30457630	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacgacgccgcgagtccGaggatggtgccgcgggcgcc	7	3	17	14	8	0	0	0	0	0	0	1	5	1	1	4	3	2	0	4	3	1	0			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:30457630G>T	ENST00000376630.4	+	2	257	c.192G>T	c.(190-192)ccG>ccT	p.P64P		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	64	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CCGCGAGTCCGAGGATGGTGC	0.677													42	66					3.70713e-34	4.24862e-34	1	0	T	30457630	G	T	30457630	2	4	505	1	0	0	0	0	0	0	0	1	7260	1045	37	3		3	HLA-E	6	30457630	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	4349700	30457630	140657437	22	97628											
POU3F2	5454	broad.mit.edu	37	chr6	99283427	99283427	+	Frame_Shift_Del	DEL	C	C	-																															gacgagccacaccatgccgaCcaccacccgcacccgcactc																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:99283427delC	ENST00000328345.5	+	1	848	c.678delC	c.(676-678)gafs	p.D226fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	226					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		ACCATGCCGACCACCACCCGC	0.771													2	4	---	---	---	---					-	99283427	C	-	99283427	7	5	505	1	0	1	0	1	0	0	0	0	12346	506	18	0	680	0	POU3F2	6	99283427	Frame_Shift_Del	DEL	C	TCGA-UF-A7JS-01A-11D-A34J-08	68825797	99283427	71831640	23	97629											
TCF21	6943	broad.mit.edu	37	chr6	134210974	134210974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgagaacgggtacattcacCcggtcaacctggtgagtgct	10	8	12	11	3	2	2	2	1	0	1	2	3	2	2	2	3	4	2	2	3	3	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:134210974C>G	ENST00000367882.4	+	1	699	c.439C>G	c.(439-441)Ccg>Gcg	p.P147A	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.P147A	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	147					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GTACATTCACCCGGTCAACCT	0.667													48	128					0	0	0	0	G	134210974	C	G	134210974	3	3	505	1	0	0	0	0	1	0	0	0	15785	623	22	4	441	4	TCF21	6	134210974	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	34927547	134210974	36904093	24	97630											
ABCA13	154664	broad.mit.edu	37	chr7	48563912	48563912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaaaagaggaaaagaGagtgtttgaaggaaggacca	18	7	14	2	0	0	4	0	2	0	2	0	8	0	7	1	3	0	2	1	3	6	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:48563912G>T	ENST00000435803.1	+	54	14144	c.14120G>T	c.(14119-14121)aGa>aTa	p.R4707I	ABCA13_ENST00000544596.1_Missense_Mutation_p.R437I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4707					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGGAAAAGAGAGTGTTTGAA	0.383													10	21					7.48243e-07	7.78783e-07	1	0	T	48563912	G	T	48563912	3	4	505	1	0	0	0	0	1	0	0	0	31	942	33	2	14163	2	ABCA13	7	48563912	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08		48563912	110574751	25	97631											
STAG3L2	442582	broad.mit.edu	37	chr7	74300804	74300804	+	RNA	DEL	A	A	-																															gaacagctgtcttcatacttAaaaaaaaaaaaggatcacag																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					-	74300804	A	-	74300804	6	5	505	0	1	1	0	1	0	0	0	0	15335	377	13	0		0	STAG3L2	7	74300804	RNA	DEL	A	TCGA-UF-A7JS-01A-11D-A34J-08	25736892	74300804	84837859	26	97632											
PNPLA8	50640	broad.mit.edu	37	chr7	108137094	108137094	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcatttttactgttccaAcaatgacattttgtgaaaat	14	16	4	7	0	1	2	1	2	0	0	2	2	2	2	1	0	3	1	1	0	6	6			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:108137094A>T	ENST00000426128.2	-	6	1684	c.1559T>A	c.(1558-1560)gTt>gAt	p.V520D	PNPLA8_ENST00000436062.1_Missense_Mutation_p.V520D|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V420D|PNPLA8_ENST00000388728.5_Missense_Mutation_p.V520D|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V520D|PNPLA8_ENST00000422087.1_Missense_Mutation_p.V520D	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	520	Patatin.				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			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TACTGTTCCAACAATGACATT	0.323													4	138					0	0	0	0	T	108137094	A	T	108137094	3	4	505	1	0	0	0	0	1	0	0	0	12243	43	2	5	809	5	PNPLA8	7	108137094	Missense_Mutation	SNP	A	TCGA-UF-A7JS-01A-11D-A34J-08	33836290	108137094	51001569	27	97633											
POT1	25913	broad.mit.edu	37	chr7	124491999	124491999	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtcaaatttgcagattcTaaatccctataattgaaaga	15	13	6	7	0	2	3	1	1	1	2	3	3	3	3	1	0	1	2	1	0	6	6			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:124491999T>G	ENST00000357628.3	-	11	1474	c.876A>C	c.(874-876)ttA>ttC	p.L292F	POT1_ENST00000393329.1_Missense_Mutation_p.L161F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	292					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTGCAGATTCTAAATCCCTAT	0.313													16	27					0	0	0	0	G	124491999	T	G	124491999	3	3	505	1	0	0	0	0	1	0	0	0	12332	1519	53	5	1064	5	POT1	7	124491999	Missense_Mutation	SNP	T	TCGA-UF-A7JS-01A-11D-A34J-08	16354905	124491999	34646664	28	97634											
SCARA3	51435	broad.mit.edu	37	chr8	27516175	27516175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggaggtgctctccaccaCcagcagacaaatctcccagg	11	5	9	16	0	2	1	0	0	2	1	4	2	2	2	5	3	2	2	5	3	1	0			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:27516175C>G	ENST00000301904.3	+	5	508	c.488C>G	c.(487-489)aCc>aGc	p.T163S	SCARA3_ENST00000337221.4_Missense_Mutation_p.T163S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	163					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CTCTCCACCACCAGCAGACAA	0.597													25	68					0	0	0	0	G	27516175	C	G	27516175	3	3	505	1	0	0	0	0	1	0	0	0	13965	507	18	4	506	4	SCARA3	8	27516175	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		27516175	118847847	29	97635											
ANK1	286	broad.mit.edu	37	chr8	41552808	41552808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgagctcgcggtctccaCggccatgggaggcaaagtgc	8	5	14	14	4	1	0	0	0	1	0	3	2	1	1	3	4	2	2	3	4	1	0	rs144724635		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:41552808C>T	ENST00000396942.1	-	27	3085	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H	ANK1_ENST00000352337.4_Missense_Mutation_p.R1001H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1001H|ANK1_ENST00000396945.1_Missense_Mutation_p.R1001H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1001H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1042H|ANK1_ENST00000347528.4_Missense_Mutation_p.R1001H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1001	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGGTCTCCACGGCCATGGGA	0.607													79	113					0	0	0	0	T	41552808	C	T	41552808	3	4	505	1	0	0	0	0	1	0	0	0	620	536	19	1	3033	1	ANK1	8	41552808	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	14036633	41552808	104811214	30	97636											
LYN	4067	broad.mit.edu	37	chr8	56864548	56864548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttctctctgtctgtcagaGactttgaccctgtgcatggt	5	15	10	11	0	4	2	1	1	3	1	5	3	4	2	1	1	1	2	1	1	0	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:56864548G>C	ENST00000520220.2	+	7	722	c.448G>C	c.(448-450)Gac>Cac	p.D150H	LYN_ENST00000519728.1_Missense_Mutation_p.D171H	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	171	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GTCTGTCAGAGACTTTGACCC	0.388													71	318					0	0	0	0	C	56864548	G	C	56864548	3	2	505	1	0	0	0	0	1	0	0	0	9172	942	33	2	533	2	LYN	8	56864548	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	15311740	56864548	89499474	31	97637											
POLR2K	5440	broad.mit.edu	37	chr8	101163637	101163637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccaatgatatatatCtgtggaggtaagagtagcac	15	9	10	7	0	1	2	0	1	1	1	1	3	1	3	1	2	3	4	1	2	7	5			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:101163637C>A	ENST00000353107.3	+	2	189	c.54C>A	c.(52-54)atC>atA	p.I18I	POLR2K_ENST00000522439.1_Silent_p.I18I|POLR2K_ENST00000519765.1_3'UTR	NM_005034.3	NP_005025.1	P53803	RPAB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa	18					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGATATATATCTGTGGAGGTA	0.343													102	140					2.00226e-37	2.3208e-37	1	0	A	101163637	C	A	101163637	2	1	505	1	0	0	0	0	0	0	0	1	12298	903	32	2		2	POLR2K	8	101163637	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	44299089	101163637	45200385	32	97638											
ADCY8	114	broad.mit.edu	37	chr8	132051646	132051646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggaaatgaccgccagccGgggtatgaccacttggagga	11	6	15	9	2	0	2	0	2	0	0	0	6	0	5	4	5	1	1	4	5	2	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:132051646G>A	ENST00000286355.5	-	1	3026	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R312W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	312					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACCGCCAGCCGGGGTATGACC	0.587										HNSCC(32;0.087)			23	121					0	0	0	0	A	132051646	G	A	132051646	3	1	505	1	0	0	0	0	1	0	0	0	300	1115	39	1	2893	1	ADCY8	8	132051646	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	30888009	132051646	14312376	33	97639											
KIAA1958	158405	broad.mit.edu	37	chr9	115336584	115336584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagagggtctgtttccAggataacagaagttttaact	13	11	10	7	0	1	2	0	0	1	2	2	4	2	3	2	2	2	2	2	2	4	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr9:115336584A>T	ENST00000337530.6	+	2	520	c.224A>T	c.(223-225)cAg>cTg	p.Q75L	KIAA1958_ENST00000536272.1_Missense_Mutation_p.Q75L|KIAA1958_ENST00000374244.3_Missense_Mutation_p.Q75L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	75										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTCTGTTTCCAGGATAACAGA	0.517													4	81					0	0	0	0	T	115336584	A	T	115336584	3	4	505	1	0	0	0	0	1	0	0	0	8315	188	7	5	226	5	KIAA1958	9	115336584	Missense_Mutation	SNP	A	TCGA-UF-A7JS-01A-11D-A34J-08		115336584	25876847	34	97640											
NUP214	8021	broad.mit.edu	37	chr9	134010363	134010363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacggagagacagcatCattactacctcagttacatt	12	10	8	11	1	2	1	2	0	0	1	2	3	2	2	1	1	5	4	1	1	3	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr9:134010363C>A	ENST00000359428.5	+	8	1054	c.910C>A	c.(910-912)Cat>Aat	p.H304N	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.H304N|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.H304N			P35658	NU214_HUMAN	nucleoporin 214kDa	304					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAGACAGCATCATTACTACCT	0.453			T	"DEK, SET, ABL1"	"AML, T-ALL"								19	75					8.28177e-16	9.18196e-16	1	0	A	134010363	C	A	134010363	3	1	505	1	0	0	0	0	1	0	0	0	10833	826	29	2	940	2	NUP214	9	134010363	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	18673779	134010363	7203068	35	97641											
ZNF503	84858	broad.mit.edu	37	chr10	77054516	77054517	+	RNA	INS	-	-	AGAA																															gggcggcggggagcccggagINSagaaagaagggagaccccgg																								rs143565080	by1000genomes	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:77054516_77054517insAGAA	ENST00000418818.2	-	0	142																											ggagcccggagagaaagaaggg	0.718													4	4	---	---	---	---					AGAA	77054517	-	AGAA	77054516	6	5	505	0	1	1	1	0	0	0	0	0	18046	957	33	0		0	ZNF503	10	77054516	RNA	INS	-	TCGA-UF-A7JS-01A-11D-A34J-08		77054516	58480231	36	97642											
MMRN2	79812	broad.mit.edu	37	chr10	88696861	88696861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtcccttctgaaaagctgGcatagaaggccacaggggat	11	7	12	11	1	1	2	0	1	1	1	2	3	2	3	3	4	1	2	3	4	4	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:88696861G>A	ENST00000372027.4	-	7	2562	c.2489C>T	c.(2488-2490)gCc>gTc	p.A830V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	830	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGAAAAGCTGGCATAGAAGGC	0.498													18	34					0	0	0	0	A	88696861	G	A	88696861	3	1	505	1	0	0	0	0	1	0	0	0	9741	1203	42	4	364	4	MMRN2	10	88696861	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	11642345	88696861	46837886	37	97643											
HELLS	3070	broad.mit.edu	37	chr10	96322571	96322571	+	Frame_Shift_Del	DEL	A	A	-																															taaaatttttttttatagttAtgaggaaaaaaagaggaaga																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:96322571delA	ENST00000348459.5	+	6	478	c.373delA	c.(373-375)tgfs	p.M125fs	HELLS_ENST00000371332.4_Frame_Shift_Del_p.M125fs|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000394045.1_Frame_Shift_Del_p.M125fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.M125fs|HELLS_ENST00000394036.1_Intron	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	125					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ttttataGTTATGAGGAAAAA	0.284													25	58	---	---	---	---					-	96322571	A	-	96322571	7	5	505	1	0	1	0	1	0	0	0	0	7096	449	16	0	395	0	HELLS	10	96322571	Frame_Shift_Del	DEL	A	TCGA-UF-A7JS-01A-11D-A34J-08	7625710	96322571	39212176	38	97644											
CNNM1	26507	broad.mit.edu	37	chr10	101090568	101090568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgaccagcggcacaacaTtgtggacattttatttgtca	10	12	11	8	1	1	1	1	1	0	0	1	2	1	2	1	3	2	1	1	3	2	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:101090568T>A	ENST00000356713.4	+	1	1713	c.1424T>A	c.(1423-1425)aTt>aAt	p.I475N	CNNM1_ENST00000370534.4_Missense_Mutation_p.I110N|CNNM1_ENST00000446890.1_Missense_Mutation_p.I404N|CNNM1_ENST00000370528.3_Missense_Mutation_p.I404N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	475	CBS 1.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGGCACAACATTGTGGACATT	0.602													24	56					0	0	0	0	A	101090568	T	A	101090568	3	1	505	1	0	0	0	0	1	0	0	0	3642	1493	52	5	1426	5	CNNM1	10	101090568	Missense_Mutation	SNP	T	TCGA-UF-A7JS-01A-11D-A34J-08	4767997	101090568	34444179	39	97645											
CWF19L1	55280	broad.mit.edu	37	chr10	101997803	101997804	+	Frame_Shift_Ins	INS	-	-	T																															gctggaggtgatggctcttaINStaatttctctcaaatacaac																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:101997803_101997804insT	ENST00000354105.4	-	11	1315_1316	c.1229_1230insA	c.(1228-1230)taafs	p.*410fs	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Frame_Shift_Ins_p.*165fs	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	410							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GATGGCTCTTATAATTTCTCTC	0.431													47	111	---	---	---	---					T	101997804	-	T	101997803	7	5	505	1	0	1	1	0	0	0	0	0	4103	456	16	0	402	0	CWF19L1	10	101997803	Frame_Shift_Ins	INS	-	TCGA-UF-A7JS-01A-11D-A34J-08	907235	101997803	33536944	40	97646											
OR51Q1	390061	broad.mit.edu	37	chr11	5444249	5444249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcatgcctctccactGgtccatgttatcatggccaa	9	10	8	14	0	2	0	1	0	1	0	4	0	3	0	5	2	2	2	5	2	3	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:5444249G>A	ENST00000300778.4	+	1	909	c.819G>A	c.(817-819)ctG>ctA	p.L273L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCACTGGTCCATGTTA	0.478													33	67					0	0	0	0	A	5444249	G	A	5444249	2	1	505	1	0	0	0	0	0	0	0	1	11175	1335	47	4		4	OR51Q1	11	5444249	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08		5444249	129562267	41	97647											
SMPD1	6609	broad.mit.edu	37	chr11	6412781	6412781	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctgaggcctgtggcctgctCctgggctccacctgtgggca	3	10	14	14	0	1	1	0	1	1	0	3	1	3	1	5	4	1	3	5	4	0	0			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:6412781C>G	ENST00000342245.4	+	2	654	c.486C>G	c.(484-486)ctC>ctG	p.L162L	SMPD1_ENST00000527275.1_Silent_p.L161L|SMPD1_ENST00000299397.3_Silent_p.L162L|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Silent_p.L162L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	160	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTGGCCTGCTCCTGGGCTCCA	0.607													11	19					0	0	0	0	G	6412781	C	G	6412781	2	3	505	1	0	0	0	0	0	0	0	1	14892	842	30	2		2	SMPD1	11	6412781	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	968532	6412781	128593735	42	97648											
IPO7	10527	broad.mit.edu	37	chr11	9455372	9455372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttgaagtctttcagcaaGatggctttgattactttaca	11	17	7	6	0	2	3	1	2	1	1	2	3	2	3	0	1	3	2	0	1	5	7			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:9455372G>A	ENST00000379719.3	+	18	2195	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	685					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			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)		CTTTCAGCAAGATGGCTTTGA	0.403													6	133					0	0	0	0	A	9455372	G	A	9455372	3	1	505	1	0	0	0	0	1	0	0	0	7850	942	33	2	2123	2	IPO7	11	9455372	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	3042591	9455372	125551144	43	97649											
OR5D16	390144	broad.mit.edu	37	chr11	55606557	55606557	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttcttttgcacctttgtAgtgactgaattaattctatt	8	22	5	6	0	2	2	0	2	2	0	2	2	2	2	1	0	1	2	1	0	4	10			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:55606557A>G	ENST00000378396.1	+	1	330	c.330A>G	c.(328-330)gtA>gtG	p.V110V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCACCTTTGTAGTGACTGAAT	0.433													61	70					0	0	0	0	G	55606557	A	G	55606557	2	3	505	1	0	0	0	0	0	0	0	1	11227	407	15	5		5	OR5D16	11	55606557	Silent	SNP	A	TCGA-UF-A7JS-01A-11D-A34J-08	46151185	55606557	79399959	44	97650											
GIF	2694	broad.mit.edu	37	chr11	59599164	59599164	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaccttcattcaaaggTgttacaccactaagaaactg	13	10	5	13	0	3	1	3	0	0	1	3	1	3	1	3	1	2	1	3	1	4	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:59599164T>C	ENST00000541311.1	-	8	1338	c.1104A>G	c.(1102-1104)acA>acG	p.T368T	GIF_ENST00000257248.2_Silent_p.T393T			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	393	Cobalamin binding.				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTCAAAGGTGTTACACCAC	0.358													33	50					0	0	0	0	C	59599164	T	C	59599164	2	2	505	1	0	0	0	0	0	0	0	1	6427	1683	59	5		5	GIF	11	59599164	Silent	SNP	T	TCGA-UF-A7JS-01A-11D-A34J-08	3992607	59599164	75407352	45	97651											
CD6	923	broad.mit.edu	37	chr11	60780908	60780908	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagaatcttctgtgacAgtgaaaatagagaacaagga	16	10	9	6	0	2	4	0	2	2	2	3	6	3	5	1	1	1	0	1	1	6	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:60780908A>T	ENST00000313421.7	+	7	1350	c.1164A>T	c.(1162-1164)acA>acT	p.T388T	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000452451.2_Silent_p.T388T|CD6_ENST00000352009.5_Silent_p.T388T|CD6_ENST00000346437.4_Silent_p.T388T|CD6_ENST00000344028.5_Silent_p.T388T	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	388					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CTTCTGTGACAGTGAAAATAG	0.463													4	166					0	0	0	0	T	60780908	A	T	60780908	2	4	505	1	0	0	0	0	0	0	0	1	3057	175	7	5		5	CD6	11	60780908	Silent	SNP	A	TCGA-UF-A7JS-01A-11D-A34J-08	1181744	60780908	74225608	46	97652											
USP35	57558	broad.mit.edu	37	chr11	77907430	77907430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctggcgctgggcgcgCgcctctacgtgggcggcgcg	1	6	19	15	9	1	0	0	0	1	0	1	0	1	0	1	4	2	3	1	4	1	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:77907430C>T	ENST00000529308.1	+	2	400	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	47					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCTGGGCGCGCGCCTCTACGT	0.761													8	8					0	0	0	0	T	77907430	C	T	77907430	3	4	505	1	0	0	0	0	1	0	0	0	17162	768	27	1	141	1	USP35	11	77907430	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	17126522	77907430	57099086	47	97653											
MMP1	4312	broad.mit.edu	37	chr11	102668112	102668112	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcatctggtttcccagtCactttcagcccaaagaattc	10	12	6	13	0	4	1	3	0	1	1	6	1	5	1	2	1	2	2	2	1	2	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:102668112C>G	ENST00000315274.6	-	2	292	c.225G>C	c.(223-225)gtG>gtC	p.V75V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	75					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTTTCCCAGTCACTTTCAGCC	0.493													31	898					0	0	0	0	G	102668112	C	G	102668112	2	3	505	1	0	0	0	0	0	0	0	1	9717	813	29	2		2	MMP1	11	102668112	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	24760682	102668112	32338404	48	97654											
DSCAML1	57453	broad.mit.edu	37	chr11	117374650	117374650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgtcctcttctaggaCgtggcggatcagcagcgagc	7	8	14	12	4	3	0	1	0	2	0	4	4	4	2	2	3	3	1	2	3	1	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:117374650C>T	ENST00000321322.6	-	11	2450	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	757	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTAGGACGTGGCGGATC	0.617													30	38					0	0	0	0	T	117374650	C	T	117374650	3	4	505	1	0	0	0	0	1	0	0	0	4805	536	19	1	3984	1	DSCAML1	11	117374650	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	14706538	117374650	17631866	49	97655											
GXYLT1	283464	broad.mit.edu	37	chr12	42538396	42538396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgaaagcgtaaaggagcGagcagaagccgcaggccaca	14	2	15	10	3	0	2	0	1	0	1	0	4	0	3	2	3	4	4	2	3	4	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:42538396G>A	ENST00000398675.3	-	1	285	c.53C>T	c.(52-54)tCg>tTg	p.S18L	GXYLT1_ENST00000280876.6_Missense_Mutation_p.S18L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	18					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTAAAGGAGCGAGCAGAAGCC	0.746													3	8					0	0	0	0	A	42538396	G	A	42538396	3	1	505	1	0	0	0	0	1	0	0	0	6953	1059	37	1	1301	1	GXYLT1	12	42538396	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08		42538396	91313499	50	97656											
LACRT	90070	broad.mit.edu	37	chr12	55025612	55025612	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgttagtaagatacttttctCcactatggattctaattttg	10	19	6	6	0	2	1	0	0	2	1	3	2	2	2	1	1	1	2	1	1	5	10			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:55025612C>G	ENST00000257867.4	-	4	318	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	89					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ATACTTTTCTCCACTATGGAT	0.458													41	120					0	0	0	0	G	55025612	C	G	55025612	3	3	505	1	0	0	0	0	1	0	0	0	8649	864	30	2	159	2	LACRT	12	55025612	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	12487216	55025612	78826283	51	97657											
SBNO1	55206	broad.mit.edu	37	chr12	123789230	123789230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctttttaggattcacttCtttaactaagatggcagttt	9	20	6	6	0	3	1	1	0	2	1	3	2	3	2	0	2	1	2	0	2	3	10			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:123789230C>G	ENST00000420886.2	-	28	3666	c.3667G>C	c.(3667-3669)Gaa>Caa	p.E1223Q	SBNO1_ENST00000602750.1_Missense_Mutation_p.E1222Q|SBNO1_ENST00000602398.1_Missense_Mutation_p.E1223Q|SBNO1_ENST00000267176.4_Missense_Mutation_p.E1222Q	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1223							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGATTCACTTCTTTAACTAAG	0.269													29	95					0	0	0	0	G	123789230	C	G	123789230	3	3	505	1	0	0	0	0	1	0	0	0	13948	922	32	2	530	2	SBNO1	12	123789230	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	68763618	123789230	10062665	52	97658											
LHFP	10186	broad.mit.edu	37	chr13	39918178	39918178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcagtagtaggcccagccGatttcacacttccctaagga	10	9	10	12	1	1	0	1	0	0	0	2	2	2	1	3	2	2	3	3	2	3	5			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr13:39918178G>A	ENST00000379589.3	-	4	960	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	166						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGCCCAGCCGATTTCACACT	0.527			T	HMGA2	lipoma								15	24					0	0	0	0	A	39918178	G	A	39918178	2	1	505	1	0	0	0	0	0	0	0	1	8817	1048	37	1		1	LHFP	13	39918178	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08		39918178	75251700	53	97659											
LMO7	4008	broad.mit.edu	37	chr13	76427494	76427494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagccattccccttcagCttcacagtcaggctctcagc	9	9	8	15	0	4	1	4	0	1	1	6	2	5	1	3	1	3	2	3	1	1	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr13:76427494C>A	ENST00000357063.3	+	29	6047	c.4787C>A	c.(4786-4788)gCt>gAt	p.A1596D	LMO7_ENST00000377534.3_Missense_Mutation_p.A1596D|LMO7_ENST00000526202.1_Missense_Mutation_p.A1188D|LMO7_ENST00000321797.8_Missense_Mutation_p.A1311D|LMO7_ENST00000465261.2_Missense_Mutation_p.A1311D|LMO7_ENST00000341547.4_Missense_Mutation_p.A1262D			Q8WWI1	LMO7_HUMAN	LIM domain 7	1596						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCCCCTTCAGCTTCACAGTCA	0.542													20	16					2.89027e-11	3.13625e-11	1	0	A	76427494	C	A	76427494	3	1	505	1	0	0	0	0	1	0	0	0	8910	797	28	4	4901	4	LMO7	13	76427494	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	36509316	76427494	38742384	54	97660											
PABPN1	8106	broad.mit.edu	37	chr14	23793497	23793497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccggggtcgcgtctacAggtcaggatagatgggctgc	6	7	17	11	3	2	1	1	0	1	1	3	2	2	2	2	6	2	1	2	6	2	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr14:23793497A>G	ENST00000397276.2	+	6	893	c.880A>G	c.(880-882)Agg>Ggg	p.R294G	BCL2L2-PABPN1_ENST00000557008.1_Splice_Site_p.R321_splice|PABPN1_ENST00000556821.1_Splice_Site_p.R166_splice|PABPN1_ENST00000216727.4_Splice_Site_p.R294_splice|BCL2L2-PABPN1_ENST00000553781.1_Splice_Site_p.R321_splice|PABPN1_ENST00000557702.1_Missense_Mutation_p.R166G					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGCGTCTACAGGTCAGGATA	0.632													25	102					0	0	0	0	G	23793497	A	G	23793497	3	3	505	1	0	0	0	0	1	0	0	0	11439	202	7	5	902	5	PABPN1	14	23793497	Missense_Mutation	SNP	A	TCGA-UF-A7JS-01A-11D-A34J-08		23793497	83556043	55	97661											
BTBD7	55727	broad.mit.edu	37	chr14	93760741	93760741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaaccttgagtcctccaTtccaaactctcctgtataaa	12	13	4	12	0	1	2	0	2	1	0	5	2	4	2	5	0	2	1	5	0	5	5			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr14:93760741T>C	ENST00000334746.5	-	3	932	c.625A>G	c.(625-627)Atg>Gtg	p.M209V	BTBD7_ENST00000298896.3_Missense_Mutation_p.M209V|BTBD7_ENST00000555525.1_Missense_Mutation_p.M209V|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	209	BTB 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAGTCCTCCATTCCAAACTCT	0.393													40	90					0	0	0	0	C	93760741	T	C	93760741	3	2	505	1	0	0	0	0	1	0	0	0	1555	1493	52	5	2884	5	BTBD7	14	93760741	Missense_Mutation	SNP	T	TCGA-UF-A7JS-01A-11D-A34J-08	69967244	93760741	13588799	56	97662											
INO80	54617	broad.mit.edu	37	chr15	41337138	41337138	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcaaaggtttggaaaggaGagtggaaaattaaccccaag	16	7	12	6	0	0	1	0	0	0	1	0	4	0	3	2	4	2	2	2	4	6	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr15:41337138G>C	ENST00000361937.3	-	24	3295	c.2871C>G	c.(2869-2871)ctC>ctG	p.L957L	INO80_ENST00000401393.3_Silent_p.L957L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	957	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGAAAGGAGAGTGGAAAAT	0.443													52	97					0	0	0	0	C	41337138	G	C	41337138	2	2	505	1	0	0	0	0	0	0	0	1	7799	929	33	2		2	INO80	15	41337138	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08		41337138	61194254	57	97663											
TMEM202	338949	broad.mit.edu	37	chr15	72700048	72700048	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagggatcatctctcttctCaactacttaacttccagatc	10	14	5	12	0	4	1	2	0	3	1	8	2	5	2	1	1	3	1	1	1	4	5			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr15:72700048C>G	ENST00000341689.3	+	5	690	c.636C>G	c.(634-636)ctC>ctG	p.L212L	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	212						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCTCTCTTCTCAACTACTTAA	0.438													27	60					0	0	0	0	G	72700048	C	G	72700048	2	3	505	1	0	0	0	0	0	0	0	1	16221	813	29	2		2	TMEM202	15	72700048	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	31362910	72700048	29831344	58	97664											
KREMEN2	79412	broad.mit.edu	37	chr16	3014913	3014913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccgcggccaccagaacCgcactggcccgcgcggggcg	7	2	14	18	7	0	1	0	0	0	1	0	1	0	1	5	4	2	1	5	4	2	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr16:3014913C>T	ENST00000572045.1	+	2	453	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	KREMEN2_ENST00000571007.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000575885.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000319500.6_Missense_Mutation_p.R50C|KREMEN2_ENST00000575769.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000303746.5_Missense_Mutation_p.R50C	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	50	Kringle.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCACCAGAACCGCACTggccc	0.726													3	5					0	0	0	0	T	3014913	C	T	3014913	3	4	505	1	0	0	0	0	1	0	0	0	8495	652	23	1	154	1	KREMEN2	16	3014913	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		3014913	87339840	59	97665											
FA2H	79152	broad.mit.edu	37	chr16	74750290	74750290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgacgtggtgggccttcaGgctgtacaggtaggagccct	6	10	15	10	1	1	1	1	1	0	0	1	2	1	2	2	5	2	3	2	5	2	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr16:74750290G>T	ENST00000219368.3	-	6	1063	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	FA2H_ENST00000544337.1_Missense_Mutation_p.L119M	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	332					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TGGGCCTTCAGGCTGTACAGG	0.557													12	23					9.31168e-06	9.59385e-06	1	0	T	74750290	G	T	74750290	3	4	505	1	0	0	0	0	1	0	0	0	5393	991	35	4	132	4	FA2H	16	74750290	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	71735377	74750290	15604463	60	97666											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			14	27					0	0	0	0	A	7577094	G	A	7577094	3	1	505	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08		7577094	73618116	61	97667											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			33	63					0	0	0	0	T	7578406	C	T	7578406	3	4	505	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	1312	7578406	73616804	62	97668											
CENPV	201161	broad.mit.edu	37	chr17	16253307	16253307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacgaactgctccacagtgGcagcctcctgtgtgcttcac	9	9	9	14	1	1	0	1	0	0	0	3	1	3	0	3	1	5	3	3	1	2	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:16253307G>A	ENST00000299736.4	-	2	509	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	152					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity			endometrium(1)|large_intestine(2)	3						CTCCACAGTGGCAGCCTCCTG	0.398													4	108					0	0	0	0	A	16253307	G	A	16253307	2	1	505	1	0	0	0	0	0	0	0	1	3272	1195	42	4		4	CENPV	17	16253307	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	8674901	16253307	64941903	63	97669											
SOX9	6662	broad.mit.edu	37	chr17	70118926	70118926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctgcgcgtgcagcacaaGaaggaccacccggattacaa	12	4	12	13	4	0	1	0	0	0	1	0	3	0	3	2	3	4	3	2	3	4	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:70118926G>C	ENST00000245479.2	+	2	870	c.498G>C	c.(496-498)aaG>aaC	p.K166N		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	166					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.K166delK(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TGCAGCACAAGAAGGACCACC	0.662													25	61					0	0	0	0	C	70118926	G	C	70118926	3	2	505	1	0	0	0	0	1	0	0	0	15046	933	33	2	504	2	SOX9	17	70118926	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	53865619	70118926	11076284	64	97670											
CC2D1A	54862	broad.mit.edu	37	chr19	14024411	14024411	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttctgccaccgccccAgcctcatctccaggcttggc	5	8	9	19	1	3	0	1	0	2	0	4	1	3	1	7	3	2	1	7	3	0	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:14024411A>G	ENST00000318003.7	+	6	949	c.708A>G	c.(706-708)ccA>ccG	p.P236P	CC2D1A_ENST00000589606.1_Silent_p.P236P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	236	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCACCGCCCCAGCCTCATCTC	0.672													8	32					0	0	0	0	G	14024411	A	G	14024411	2	3	505	1	0	0	0	0	0	0	0	1	2751	175	7	5		5	CC2D1A	19	14024411	Silent	SNP	A	TCGA-UF-A7JS-01A-11D-A34J-08		14024411	45104572	65	97671											
MAST3	23031	broad.mit.edu	37	chr19	18248158	18248158	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagctgaggatgatacCagctactttgacagtaagga	13	9	11	8	1	0	3	0	3	0	0	1	6	0	5	1	2	4	3	1	2	4	4			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:18248158C>A	ENST00000262811.5	+	18	1995	c.1995C>A	c.(1993-1995)acC>acA	p.T665T		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	665	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGGATGATACCAGCTACTTTG	0.627													5	114					0.217242	0.217242	1	0	A	18248158	C	A	18248158	2	1	505	1	0	0	0	0	0	0	0	1	9395	581	21	4		4	MAST3	19	18248158	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	4223747	18248158	40880825	66	97672											
PHLDB3	653583	broad.mit.edu	37	chr19	44008241	44008241	+	Silent	SNP	C	C	G																															gggaccagcggcggcggggtCccctcctcggggctgcttcg																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:44008241C>G	ENST00000292140.5	-	2	390	c.30G>C	c.(28-30)ggG>ggC	p.G10G	PHLDB3_ENST00000599242.1_Silent_p.G10G	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	10										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCGGCGGGGTCCCCTCCTCGG	0.741													6	14					0	0	0	0	G	44008241	C	G	44008241	2	3	505	1	0	0	0	0	0	0	0	1	11925	842	30	2		2	PHLDB3	19	44008241	Silent	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	25760083	44008241	15120742	67	97673	1165	2									
PHLDB3	653583	broad.mit.edu	37	chr19	44008242	44008242	+	Missense_Mutation	SNP	C	C	T																															ggaccagcggcggcggggtcCcctcctcggggctgcttcgc																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:44008242C>T	ENST00000292140.5	-	2	389	c.29G>A	c.(28-30)gGg>gAg	p.G10E	PHLDB3_ENST00000599242.1_Missense_Mutation_p.G10E	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	10										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCGGGGTCCCCTCCTCGGG	0.741													6	13					0	0	0	0	T	44008242	C	T	44008242	3	4	505	1	0	0	0	0	1	0	0	0	11925	623	22	4	1953	4	PHLDB3	19	44008242	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	1	44008242	15120741	68	97674	1165	2									
FPR1	2357	broad.mit.edu	37	chr19	52249322	52249322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtggatcagcctctccCggaagtcctggcccatgaag	7	7	14	13	2	2	1	1	1	1	0	4	3	3	3	4	4	1	0	4	4	2	0			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:52249322C>T	ENST00000595042.1	-	3	1067	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R309Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	309					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGCCTCTCCCGGAAGTCCTG	0.537													42	87					0	0	0	0	T	52249322	C	T	52249322	3	4	505	1	0	0	0	0	1	0	0	0	6085	652	23	1	130	1	FPR1	19	52249322	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	8241080	52249322	6879661	69	97675											
FPR1	2357	broad.mit.edu	37	chr19	52249948	52249948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtccactatggtaaagacGaatttgcacaggaaccagcc	14	8	9	10	1	0	1	0	0	0	1	1	3	1	2	3	2	3	2	3	2	5	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:52249948G>A	ENST00000595042.1	-	3	441	c.300C>T	c.(298-300)ttC>ttT	p.F100F	FPR1_ENST00000304748.4_Silent_p.F100F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	100					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGGTAAAGACGAATTTGCACA	0.532													30	86					0	0	0	0	A	52249948	G	A	52249948	2	1	505	1	0	0	0	0	0	0	0	1	6085	1049	37	1		1	FPR1	19	52249948	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	626	52249948	6879035	70	97676											
VN1R4	317703	broad.mit.edu	37	chr19	53770579	53770580	+	Frame_Shift_Ins	INS	-	-	T																															ttaagttttgcccacctggaINStttcctggagctgaccgtga																										TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:53770579_53770580insT	ENST00000311170.4	-	1	392_393	c.339_340insA	c.(337-342)aaccagfs	p.NQ113fs		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	113					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCCCACCTGGATTTCCTGGAGC	0.495										HNSCC(26;0.072)			9	44	---	---	---	---					T	53770580	-	T	53770579	7	5	505	1	0	1	1	0	0	0	0	0	17276	333	12	0	568	0	VN1R4	19	53770579	Frame_Shift_Ins	INS	-	TCGA-UF-A7JS-01A-11D-A34J-08	1520631	53770579	5358404	71	97677											
NLRP5	126206	broad.mit.edu	37	chr19	56545030	56545030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggatgtaaggatggCgtgtgaagccttaaaacacc	14	7	14	6	1	0	2	0	1	0	1	0	5	0	5	2	4	2	1	2	4	5	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:56545030C>A	ENST00000390649.3	+	9	2570	c.2570C>A	c.(2569-2571)gCg>gAg	p.A857E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	857						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTAAGGATGGCGTGTGAAGCC	0.473													61	198					3.07184e-27	3.48142e-27	1	0	A	56545030	C	A	56545030	3	1	505	1	0	0	0	0	1	0	0	0	10550	768	27	3	2604	3	NLRP5	19	56545030	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	2774451	56545030	2583953	72	97678											
TRIM28	10155	broad.mit.edu	37	chr19	59061536	59061536	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccggtggcaccctggAtctgaccctgatccgtgccc	5	7	11	18	2	1	2	0	2	1	0	2	3	2	3	6	3	2	1	6	3	0	0			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:59061536A>T	ENST00000253024.5	+	16	2505	c.2216A>T	c.(2215-2217)gAt>gTt	p.D739V	TRIM28_ENST00000341753.6_Missense_Mutation_p.D657V	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	739	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCACCCTGGATCTGACCCTG	0.582													12	27					0	0	0	0	T	59061536	A	T	59061536	3	4	505	1	0	0	0	0	1	0	0	0	16597	333	12	5	2278	5	TRIM28	19	59061536	Missense_Mutation	SNP	A	TCGA-UF-A7JS-01A-11D-A34J-08	2516506	59061536	67447	73	97679											
WFDC6	140870	broad.mit.edu	37	chr20	44167974	44167974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgccaaggatgccttcagCgtgcccaggttcctggatgt	7	10	12	12	1	1	0	1	0	0	0	2	2	2	2	4	3	4	1	4	3	1	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr20:44167974C>T	ENST00000600168.1	-	1	160	c.73G>A	c.(73-75)Gct>Act	p.A25T	WFDC6_ENST00000372670.3_Missense_Mutation_p.A25T|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				ATGCCTTCAGCGTGCCCAGGT	0.502													25	66					0	0	0	0	T	44167974	C	T	44167974	3	4	505	1	0	0	0	0	1	0	0	0	17451	768	27	1	199	1	WFDC6	20	44167974	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		44167974	18857546	74	97680											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666606	19666606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatacacgcagtgtgcggCggacaccagccagtcactgc	9	5	11	16	3	1	0	1	0	0	0	1	1	1	1	3	2	4	1	3	2	1	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:19666606C>T	ENST00000284885.3	-	21	2500	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	823	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAGTGTGCGGCGGACACCAGC	0.577													21	64					0	0	0	0	T	19666606	C	T	19666606	3	4	505	1	0	0	0	0	1	0	0	0	16340	768	27	1	612	1	TMPRSS15	21	19666606	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		19666606	28463289	75	97681											
SON	6651	broad.mit.edu	37	chr21	34925139	34925139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcctacagaggtgccatCatcaccatctgaagagtctg	10	10	10	11	0	4	3	2	1	2	2	4	3	4	3	3	2	2	0	3	2	2	2			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:34925139C>T	ENST00000356577.4	+	3	4077	c.3602C>T	c.(3601-3603)tCa>tTa	p.S1201L	SON_ENST00000300278.4_Missense_Mutation_p.S1201L|SON_ENST00000290239.6_Missense_Mutation_p.S1201L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1201L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1201					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCATCATCACCATCT	0.512													58	147					0	0	0	0	T	34925139	C	T	34925139	3	4	505	1	0	0	0	0	1	0	0	0	15014	838	29	2	3612	2	SON	21	34925139	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	15258533	34925139	13204756	76	97682											
U2AF1	7307	broad.mit.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	9	11	10	11	3	1	2	0	1	1	1	3	4	1	2	3	1	3	3	3	1	2	3			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:44524456G>T	ENST00000291552.4	-	2	193	c.101C>A	c.(100-102)tCt>tAt	p.S34Y	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34Y|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"								11	35					0.00136819	0.00139556	1	0	T	44524456	G	T	44524456	3	4	505	1	0	0	0	0	1	0	0	0	16917	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	9599317	44524456	3605439	77	97683											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959992	45959992	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatccacctgccaggagtcGgagcaagcgctggagcagac	10	4	14	13	2	0	1	0	0	0	1	2	4	1	4	3	3	4	4	3	3	1	0			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:45959992G>A	ENST00000400375.1	-	1	86	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	14						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCCAGGAGTCGGAGCAAGCGC	0.682													4	123					0	0	0	0	A	45959992	G	A	45959992	2	1	505	1	0	0	0	0	0	0	0	1	8557	1103	39	1		1	KRTAP10-1	21	45959992	Silent	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08	1435536	45959992	2169903	78	97684											
MPST	4357	broad.mit.edu	37	chr22	37420665	37420665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcctccgccactggctgCgccagaacctcccgctcagc	5	5	11	20	4	1	1	1	0	0	1	3	1	3	1	6	2	3	2	6	2	1	0			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:37420665C>T	ENST00000397225.2	+	2	1324	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MPST_ENST00000429360.2_Missense_Mutation_p.R137C|MPST_ENST00000401419.3_Missense_Mutation_p.R137C|MPST_ENST00000404802.3_Missense_Mutation_p.R137C|MPST_ENST00000397129.1_Missense_Mutation_p.R157C|MPST_ENST00000341116.3_Missense_Mutation_p.R137C|MPST_ENST00000404393.1_Missense_Mutation_p.R137C			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	137	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CCACTGGCTGCGCCAGAACCT	0.677													8	10					0	0	0	0	T	37420665	C	T	37420665	3	4	505	1	0	0	0	0	1	0	0	0	9814	768	27	1	475	1	MPST	22	37420665	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08		37420665	13883901	79	97685											
CRELD2	79174	broad.mit.edu	37	chr22	50316911	50316911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtgtgcggccgagccgcctCcctgcagcgctgcgcagttc	4	7	14	16	5	0	0	0	0	0	0	2	1	1	0	4	1	5	4	4	1	0	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:50316911C>G	ENST00000404488.3	+	8	1000	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.P240A|CRELD2_ENST00000328268.4_Missense_Mutation_p.P240A|CRELD2_ENST00000403427.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	240						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGCCGCCTCCCTGCAGCGC	0.692													6	37					0	0	0	0	G	50316911	C	G	50316911	3	3	505	1	0	0	0	0	1	0	0	0	3897	855	30	2	895	2	CRELD2	22	50316911	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	12896246	50316911	987655	80	97686											
NCAPH2	29781	broad.mit.edu	37	chr22	50960821	50960821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaggaccacctggaggattCcctggaagacctgggggcag	9	5	17	10	0	0	1	0	0	0	1	1	6	1	6	4	7	0	1	4	7	1	1			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:50960821C>G	ENST00000395701.3	+	15	1377	c.1283C>G	c.(1282-1284)tCc>tGc	p.S428C	NCAPH2_ENST00000299821.11_Missense_Mutation_p.S428C|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000420993.2_Missense_Mutation_p.S428C			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	428					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTGGAGGATTCCCTGGAAGAC	0.657													15	51					0	0	0	0	G	50960821	C	G	50960821	3	3	505	1	0	0	0	0	1	0	0	0	10280	855	30	2	1380	2	NCAPH2	22	50960821	Missense_Mutation	SNP	C	TCGA-UF-A7JS-01A-11D-A34J-08	643910	50960821	343745	81	97687											
TEX11	56159	broad.mit.edu	37	chrX	70080744	70080744	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactttgttctgaggcaaatGaggcttcacacatactcagc	11	12	8	10	0	3	2	2	2	1	0	3	2	3	2	0	2	3	3	0	2	3	5			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chrX:70080744G>C	ENST00000395889.2	-	6	487	c.332C>G	c.(331-333)tCa>tGa	p.S111*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.S111*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.S96*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	111							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGAGGCAAATGAGGCTTCACA	0.338													15	14					0	0	0	0	C	70080744	G	C	70080744	4	2	505	1	0	0	0	0	0	1	0	0	15868	1294	45	2	2594	2	TEX11	23	70080744	Nonsense_Mutation	SNP	G	TCGA-UF-A7JS-01A-11D-A34J-08		70080744	85189816	82	97688											
TARDBP	23435	broad.mit.edu	37	chr1	11076957	11076957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtgaaagtgaaaagaGcagtccagaaaacatccgat	18	5	10	8	1	0	4	0	2	0	2	2	5	2	4	2	0	3	2	2	0	5	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:11076957G>A	ENST00000240185.3	+	3	409	c.295G>A	c.(295-297)Gca>Aca	p.A99T	TARDBP_ENST00000315091.3_Missense_Mutation_p.A99T|TARDBP_ENST00000439080.2_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	99					3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGTGAAAAGAGCAGTCCAGAA	0.368													23	71					0	0	0	0	A	11076957	G	A	11076957	3	1	506	1	0	0	0	0	1	0	0	0	15648	971	34	4	301	4	TARDBP	1	11076957	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		11076957	238173664	1	97689											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854241	12854241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttcatagacatctgcctCaaggaaataccccaggatga	13	9	9	10	0	3	2	2	1	1	1	3	4	3	4	3	2	2	1	3	2	4	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:12854241C>T	ENST00000332296.7	+	3	568	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	155										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACATCTGCCTCAAGGAAATAC	0.498													9	395					0	0	0	0	T	12854241	C	T	12854241	2	4	506	1	0	0	0	0	0	0	0	1	12501	813	29	2		2	PRAMEF1	1	12854241	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	1777284	12854241	236396380	2	97690											
SPEN	23013	broad.mit.edu	37	chr1	16260211	16260211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggggggatcccacaccaGagcccccctactaaggtgac	9	6	11	15	0	1	2	0	1	1	1	2	3	2	3	5	4	2	0	5	4	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:16260211G>C	ENST00000375759.3	+	11	7680	c.7476G>C	c.(7474-7476)caG>caC	p.Q2492H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2492	Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCACACCAGAGCCCCCCTA	0.597													24	83					0	0	0	0	C	16260211	G	C	16260211	3	2	506	1	0	0	0	0	1	0	0	0	15128	933	33	2	7518	2	SPEN	1	16260211	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	3405970	16260211	232990410	3	97691											
EIF4G3	8672	broad.mit.edu	37	chr1	21205842	21205842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagacatcgacacatgtttgCgtaagccacagagaaactgg	14	8	10	9	2	0	2	0	0	0	2	1	4	0	2	1	1	3	2	1	1	3	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:21205842C>T	ENST00000602326.1	-	18	3029	c.2446G>A	c.(2446-2448)Gca>Aca	p.A816T	EIF4G3_ENST00000400422.1_Missense_Mutation_p.A810T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A530T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A816T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A810T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A300T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A414T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	810	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACATGTTTGCGTAAGCCACA	0.448													16	153					0	0	0	0	T	21205842	C	T	21205842	3	4	506	1	0	0	0	0	1	0	0	0	5076	768	27	1	2401	1	EIF4G3	1	21205842	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	4945631	21205842	228044779	4	97692											
HSPG2	3339	broad.mit.edu	37	chr1	22165988	22165988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcaccttccagccggtgCtgccagggcagtggggaacg	6	7	16	12	2	1	0	1	0	0	0	2	1	2	1	4	4	4	2	4	4	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:22165988C>A	ENST00000374695.3	-	73	9844	c.9765G>T	c.(9763-9765)caG>caT	p.Q3255H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3255	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAGCCGGTGCTGCCAGGGCA	0.632													16	9					6.94344e-10	7.33228e-10	1	0	A	22165988	C	A	22165988	3	1	506	1	0	0	0	0	1	0	0	0	7483	796	28	4	3510	4	HSPG2	1	22165988	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	960146	22165988	227084633	5	97693											
ASAP3	55616	broad.mit.edu	37	chr1	23782676	23782676	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaggatggcttggtcTccttccaagatctggaagca	8	11	11	11	0	3	1	0	0	3	1	5	3	4	3	2	4	2	3	2	4	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:23782676T>C	ENST00000336689.3	-	2	185	c.141A>G	c.(139-141)ggA>ggG	p.G47G	ASAP3_ENST00000437606.2_Silent_p.G47G	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	47					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGGCTTGGTCTCCTTCCAAGA	0.552													15	15					0	0	0	0	C	23782676	T	C	23782676	2	2	506	1	0	0	0	0	0	0	0	1	1016	1538	54	5		5	ASAP3	1	23782676	Silent	SNP	T	TCGA-UF-A7JT-01A-11D-A34J-08	1616688	23782676	225467945	6	97694											
CPT2	1376	broad.mit.edu	37	chr1	53675717	53675717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatatgtacctatctgctcGagactccgttgttctgaact	8	15	8	10	2	2	3	0	2	2	1	4	4	3	3	2	0	3	4	2	0	4	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:53675717G>A	ENST00000371486.3	+	4	886	c.371G>A	c.(370-372)cGa>cAa	p.R124Q		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	124					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTATCTGCTCGAGACTCCGTT	0.353													20	135					0	0	0	0	A	53675717	G	A	53675717	3	1	506	1	0	0	0	0	1	0	0	0	3864	1058	37	1	385	1	CPT2	1	53675717	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	29893041	53675717	195574904	7	97695											
CPT2	1376	broad.mit.edu	37	chr1	53676109	53676109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaatttttatatctttGatgtcctggatcaagatggg	12	15	10	4	0	2	2	1	1	1	1	3	4	3	4	1	3	0	0	1	3	5	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:53676109G>C	ENST00000371486.3	+	4	1278	c.763G>C	c.(763-765)Gat>Cat	p.D255H		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	255					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TTATATCTTTGATGTCCTGGA	0.498													15	52					0	0	0	0	C	53676109	G	C	53676109	3	2	506	1	0	0	0	0	1	0	0	0	3864	1290	45	2	777	2	CPT2	1	53676109	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	392	53676109	195574512	8	97696											
GADD45A	1647	broad.mit.edu	37	chr1	68152040	68152040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgctgcccccagcgaccccGataacgtggtgttgtgcctg	5	8	12	16	4	0	0	0	0	0	0	0	2	0	0	6	1	4	2	6	1	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:68152040G>C	ENST00000370986.4	+	3	588	c.154G>C	c.(154-156)Gat>Cat	p.D52H	GADD45A_ENST00000460575.1_3'UTR|GADD45A_ENST00000370985.3_Missense_Mutation_p.D18H	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	52					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						CAGCGACCCCGATAACGTGGT	0.701													5	44					0	0	0	0	C	68152040	G	C	68152040	3	2	506	1	0	0	0	0	1	0	0	0	6229	1058	37	3	164	3	GADD45A	1	68152040	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	14475931	68152040	181098581	9	97697											
LRRC7	57554	broad.mit.edu	37	chr1	70300527	70300527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgaatgacgcctttcttGaatttcttccagccaatttt	9	16	5	11	1	2	3	0	3	2	0	3	3	3	3	4	0	1	0	4	0	3	6			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:70300527G>C	ENST00000310961.5	+	7	884	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.E189Q|LRRC7_ENST00000035383.5_Missense_Mutation_p.E151Q			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	151						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGCCTTTCTTGAATTTCTTCC	0.383													16	71					0	0	0	0	C	70300527	G	C	70300527	3	2	506	1	0	0	0	0	1	0	0	0	9084	1291	45	2	465	2	LRRC7	1	70300527	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2148487	70300527	178950094	10	97698											
AK5	26289	broad.mit.edu	37	chr1	77763534	77763534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaggaaacaacaattacaGagataaagcaaaaattgatg	24	6	7	4	0	0	2	0	1	0	1	0	4	0	3	0	1	4	1	0	1	10	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:77763534G>C	ENST00000344720.5	+	5	1549	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.E201Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	201					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AACAATTACAGAGATAAAGCA	0.343													14	55					0	0	0	0	C	77763534	G	C	77763534	3	2	506	1	0	0	0	0	1	0	0	0	443	943	33	2	619	2	AK5	1	77763534	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	7463007	77763534	171487087	11	97699											
TTF2	8458	broad.mit.edu	37	chr1	117631430	117631430	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgattcttccagggcacctCaacacctttgcttcgaatag	9	12	8	12	1	2	1	1	1	1	0	4	2	3	1	3	1	2	2	3	1	3	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:117631430C>G	ENST00000369466.3	+	13	2212	c.2168C>G	c.(2167-2169)tCa>tGa	p.S723*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	723	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGGGCACCTCAACACCTTTG	0.463													22	80					0	0	0	0	G	117631430	C	G	117631430	4	3	506	1	0	0	0	0	0	1	0	0	16815	838	29	2	2218	2	TTF2	1	117631430	Nonsense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	39867896	117631430	131619191	12	97700											
GDAP2	54834	broad.mit.edu	37	chr1	118454640	118454640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctatgtgtgttgcatcctCtaaaggataaccacgttttg	9	15	9	8	1	1	0	0	0	1	0	2	1	2	1	2	1	3	4	2	1	4	6			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:118454640C>G	ENST00000369443.4	-	5	784	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	GDAP2_ENST00000369442.3_Missense_Mutation_p.E179Q	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	179	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTGCATCCTCTAAAGGATAA	0.373													15	67					0	0	0	0	G	118454640	C	G	118454640	3	3	506	1	0	0	0	0	1	0	0	0	6359	922	32	2	1043	2	GDAP2	1	118454640	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	823210	118454640	130795981	13	97701											
GDAP2	54834	broad.mit.edu	37	chr1	118454703	118454703	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagaagacattgactgctCtctgcaacaaagggaaaaca	18	6	8	9	0	1	3	0	1	1	2	2	4	1	4	0	1	5	2	0	1	6	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:118454703C>G	ENST00000369443.4	-	5	721	c.470_splice	c.e5-1	p.E158_splice	GDAP2_ENST00000369442.3_Splice_Site_p.E158_splice	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	158	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATTGACTGCTCTCTGCAACAA	0.348													14	66					0	0	0	0	G	118454703	C	G	118454703	5	3	506	1	0	0	0	0	0	0	1	0	6359	927	32	2	1106	2	GDAP2	1	118454703	Splice_Site	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	63	118454703	130795918	14	97702											
ARNT	405	broad.mit.edu	37	chr1	150830924	150830924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacccagtgatggtacaTctgatgtcatttctgtcagg	8	13	11	9	0	4	2	2	2	2	0	4	3	4	3	1	3	1	1	1	3	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:150830924T>C	ENST00000358595.5	-	2	238	c.38A>G	c.(37-39)gAt>gGt	p.D13G	ARNT_ENST00000354396.2_Missense_Mutation_p.D13G|ARNT_ENST00000515192.1_Missense_Mutation_p.D4G|ARNT_ENST00000505755.1_Missense_Mutation_p.D13G	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	13					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGATGGTACATCTGATGTCAT	0.433			T	ETV6	AML								12	30					0	0	0	0	C	150830924	T	C	150830924	3	2	506	1	0	0	0	0	1	0	0	0	969	1435	50	5	2415	5	ARNT	1	150830924	Missense_Mutation	SNP	T	TCGA-UF-A7JT-01A-11D-A34J-08	32376221	150830924	98419697	15	97703											
FLG	2312	broad.mit.edu	37	chr1	152275779	152275779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtcctggctaacactGgatccctggcgcctgcttct	5	12	9	15	1	2	0	1	0	1	0	4	1	4	1	3	3	2	2	3	3	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:152275779G>A	ENST00000368799.1	-	3	11618	c.11583C>T	c.(11581-11583)tcC>tcT	p.S3861S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3861	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTAACACTGGATCCCTGGC	0.577									Ichthyosis				53	237					0	0	0	0	A	152275779	G	A	152275779	2	1	506	1	0	0	0	0	0	0	0	1	5967	1335	47	4		4	FLG	1	152275779	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1444855	152275779	96974842	16	97704											
C1orf43	25912	broad.mit.edu	37	chr1	154180096	154180096	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgactggtgatgtcGctgagagctcccaattcgtg	6	11	14	10	2	0	3	0	3	0	1	3	4	1	3	1	2	2	4	1	2	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:154180096G>A	ENST00000368521.5	-	7	793	c.595C>T	c.(595-597)Cga>Tga	p.R199*	C1orf43_ENST00000368519.1_Nonsense_Mutation_p.R181*|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.R147*|C1orf43_ENST00000350592.3_Nonsense_Mutation_p.R165*	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	199						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TGGTGATGTCGCTGAGAGCTC	0.512													4	92					0	0	0	0	A	154180096	G	A	154180096	4	1	506	1	0	0	0	0	0	1	0	0	2060	1095	38	1	170	1	C1orf43	1	154180096	Nonsense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1904317	154180096	95070525	17	97705											
GON4L	54856	broad.mit.edu	37	chr1	155730332	155730332	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttgcaggcttttgtagAgatctacagccgtccgtctc	8	13	10	10	2	2	1	0	0	2	1	4	3	3	1	2	1	3	3	2	1	3	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:155730332A>C	ENST00000437809.1	-	24	5134	c.5012T>G	c.(5011-5013)cTc>cGc	p.L1671R	GON4L_ENST00000271883.5_Missense_Mutation_p.L1671R|GON4L_ENST00000368331.1_Missense_Mutation_p.L1671R			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1671	PAH 1.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTTTTGTAGAGATCTACAGC	0.473													4	146					0	0	0	0	C	155730332	A	C	155730332	3	2	506	1	0	0	0	0	1	0	0	0	6620	304	11	5	1746	5	GON4L	1	155730332	Missense_Mutation	SNP	A	TCGA-UF-A7JT-01A-11D-A34J-08	1550236	155730332	93520289	18	97706											
VSIG8	391123	broad.mit.edu	37	chr1	159826374	159826374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgttggccactgtgcactGatacagcccatcatctgctc	7	12	9	13	0	2	1	1	1	1	0	3	1	2	1	2	1	4	4	2	1	1	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:159826374G>C	ENST00000368100.1	-	5	847	c.712C>G	c.(712-714)Cag>Gag	p.Q238E		NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	238	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					ACTGTGCACTGATACAGCCCA	0.557													15	55					0	0	0	0	C	159826374	G	C	159826374	3	2	506	1	0	0	0	0	1	0	0	0	17322	1299	45	2	544	2	VSIG8	1	159826374	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	4096042	159826374	89424247	19	97707											
KCNJ10	3766	broad.mit.edu	37	chr1	160011200	160011200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagacattgctgatgcGcacactaagggcactgccct	10	9	9	13	1	2	2	2	1	0	1	2	2	2	2	1	1	3	3	1	1	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:160011200G>A	ENST00000368089.3	-	2	1349	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	375						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	p.R375S(1)|p.R375C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCTGATGCGCACACTAAGG	0.532													6	21					0	0	0	0	A	160011200	G	A	160011200	3	1	506	1	0	0	0	0	1	0	0	0	8097	1087	38	1	20	1	KCNJ10	1	160011200	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	184826	160011200	89239421	20	97708											
CD247	919	broad.mit.edu	37	chr1	167407814	167407814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggaacccctaccggctttCcccccatctcagggtcccgg	6	7	10	18	2	1	0	1	0	1	0	4	2	3	1	7	4	2	1	7	4	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:167407814C>A	ENST00000392122.3	-	4	437	c.293G>T	c.(292-294)gGa>gTa	p.G98V	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Missense_Mutation_p.G98V	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	98					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TACCGGCTTTCCCCCCATCTC	0.562													30	106					2.81731e-10	2.98703e-10	1	0	A	167407814	C	A	167407814	3	1	506	1	0	0	0	0	1	0	0	0	3017	855	30	2	221	2	CD247	1	167407814	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	7396614	167407814	81842807	21	97709											
PAPPA2	60676	broad.mit.edu	37	chr1	176525564	176525564	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgcaagaaatccttggttGagagggaacacctgaatcag	14	7	11	9	1	1	3	1	2	0	2	2	5	2	4	2	2	1	2	2	2	4	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:176525564G>C	ENST00000367662.3	+	2	1270	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E36Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	36					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCCTTGGTTGAGAGGGAACA	0.532													25	85					0	0	0	0	C	176525564	G	C	176525564	3	2	506	1	0	0	0	0	1	0	0	0	11504	1291	45	2	108	2	PAPPA2	1	176525564	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	9117750	176525564	72725057	22	97710											
NAV1	89796	broad.mit.edu	37	chr1	201687586	201687586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtccagcctctccaaccGctcgtcccctctgtcatggc	4	10	8	19	3	3	0	1	0	2	0	7	0	5	0	6	1	2	1	6	1	1	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:201687586G>A	ENST00000367296.4	+	3	1349	c.929G>A	c.(928-930)cGc>cAc	p.R310H	NAV1_ENST00000367300.3_Missense_Mutation_p.R310H|NAV1_ENST00000295624.6_Missense_Mutation_p.R310H|NAV1_ENST00000367297.4_Missense_Mutation_p.R310H|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.R323H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	310					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTCTCCAACCGCTCGTCCCCT	0.662													10	39					0	0	0	0	A	201687586	G	A	201687586	3	1	506	1	0	0	0	0	1	0	0	0	10253	1087	38	1	939	1	NAV1	1	201687586	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	25162022	201687586	47563035	23	97711											
PFKFB2	5208	broad.mit.edu	37	chr1	207245651	207245651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagaaattacagtgttGggagccggcccctcaagccc	10	7	11	13	1	1	1	1	0	0	1	2	2	2	2	5	2	3	1	5	2	4	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:207245651G>T	ENST00000367080.3	+	15	1577	c.1453G>T	c.(1453-1455)Ggg>Tgg	p.G485W	PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000541914.1_Intron|PFKFB2_ENST00000545806.1_Missense_Mutation_p.G452W|PFKFB2_ENST00000367079.2_Intron	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	485	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTACAGTGTTGGGAGCCGGCC	0.547													25	92					1.17739e-12	1.27914e-12	1	0	T	207245651	G	T	207245651	3	4	506	1	0	0	0	0	1	0	0	0	11833	1348	47	4	1507	4	PFKFB2	1	207245651	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	5558065	207245651	42004970	24	97712											
PTPN14	5784	broad.mit.edu	37	chr1	214557224	214557224	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggggaggtggagcgacttGagcgtcatggcctccatgcc	7	8	16	10	2	1	1	1	1	0	0	2	4	2	3	3	5	3	0	3	5	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:214557224G>C	ENST00000366956.5	-	13	2168	c.1974C>G	c.(1972-1974)ctC>ctG	p.L658L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	658					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			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)		GGAGCGACTTGAGCGTCATGG	0.682													4	35					0	0	0	0	C	214557224	G	C	214557224	2	2	506	1	0	0	0	0	0	0	0	1	12863	1277	45	2		2	PTPN14	1	214557224	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	7311573	214557224	34693397	25	97713											
PGBD5	79605	broad.mit.edu	37	chr1	230492802	230492802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggctcatgacgagggcGaggctgcggttgctgtagaa	7	8	17	9	3	1	2	1	1	0	1	1	4	1	2	1	4	2	5	1	4	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:230492802G>A	ENST00000321327.2	-	4	686	c.687C>T	c.(685-687)ctC>ctT	p.L229L	PGBD5_ENST00000391860.1_Silent_p.L84L|PGBD5_ENST00000525115.1_Silent_p.L130L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	130						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGACGAGGGCGAGGCTGCGGT	0.612													14	42					0	0	0	0	A	230492802	G	A	230492802	2	1	506	1	0	0	0	0	0	0	0	1	11856	1045	37	1		1	PGBD5	1	230492802	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	15935578	230492802	18757819	26	97714											
NLRP3	114548	broad.mit.edu	37	chr1	247599380	247599380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagaatgccttgggagaCtcaggagtcgcaattttatg	10	10	15	6	1	1	2	1	0	0	2	2	5	1	3	1	4	1	1	1	4	3	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:247599380C>A	ENST00000336119.3	+	6	3353	c.2607C>A	c.(2605-2607)gaC>gaA	p.D869E	NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391827.2_Missense_Mutation_p.D812E|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.D869E	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	869					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			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)			CCTTGGGAGACTCAGGAGTCG	0.478													17	50					3.52763e-06	3.66651e-06	1	0	A	247599380	C	A	247599380	3	1	506	1	0	0	0	0	1	0	0	0	10548	564	20	4	2629	4	NLRP3	1	247599380	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	17106578	247599380	1651241	27	97715											
ADI1	55256	broad.mit.edu	37	chr2	3504628	3504628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagatccccgcggggagcGtcaccatgtctcccttctcc	6	9	10	16	3	3	1	1	0	2	1	6	3	4	2	5	2	1	0	5	2	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:3504628G>A	ENST00000382093.5	-	3	3196	c.359C>T	c.(358-360)aCg>aTg	p.T120M	ADI1_ENST00000327435.6_Missense_Mutation_p.T126M			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	126					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CGCGGGGAGCGTCACCATGTC	0.617													7	23					0	0	0	0	A	3504628	G	A	3504628	3	1	506	1	0	0	0	0	1	0	0	0	315	1145	40	1	170	1	ADI1	2	3504628	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		3504628	239694745	28	97716											
DYSF	8291	broad.mit.edu	37	chr2	71891553	71891553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctcgctgtggactccCacagacctactgtgtgtacg	6	10	13	12	2	0	1	0	0	0	1	2	2	1	2	2	3	2	3	2	3	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:71891553C>T	ENST00000258104.3	+	45	5319	c.5042C>T	c.(5041-5043)cCa>cTa	p.P1681L	DYSF_ENST00000413539.2_Missense_Mutation_p.P1712L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1720L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1682L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.P1703L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1699L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1689L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1719L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1702L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1698L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1713L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1681						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGTGGACTCCCACAGACCTAC	0.557													8	48					0	0	0	0	T	71891553	C	T	71891553	3	4	506	1	0	0	0	0	1	0	0	0	4895	594	21	4	5479	4	DYSF	2	71891553	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	68386925	71891553	171307820	29	97717											
GGCX	2677	broad.mit.edu	37	chr2	85779543	85779543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccccttgcccacctctGctggaagcggtcattgatgg	5	11	11	14	1	2	1	1	1	1	0	3	2	3	2	4	3	4	2	4	3	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:85779543G>T	ENST00000233838.3	-	10	1515	c.1435C>A	c.(1435-1437)Cag>Aag	p.Q479K	GGCX_ENST00000430215.3_Missense_Mutation_p.Q422K	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	479					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCCCACCTCTGCTGGAAGCGG	0.478											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	76					1.52009e-12	1.63798e-12	1	0	T	85779543	G	T	85779543	3	4	506	1	0	0	0	0	1	0	0	0	6407	1328	46	4	865	4	GGCX	2	85779543	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	13887990	85779543	157419830	30	97718											
TMEM131	23505	broad.mit.edu	37	chr2	98543938	98543938	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacttctattatgctctctGactgaacgaatgctgtgaag	10	14	9	8	1	2	3	0	3	2	0	3	4	2	3	0	0	4	3	0	0	6	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:98543938G>C	ENST00000186436.5	-	2	428	c.200C>G	c.(199-201)tCa>tGa	p.S67*	TMEM131_ENST00000425805.2_Nonsense_Mutation_p.S18*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	67						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATGCTCTCTGACTGAACGAA	0.299													5	25					0	0	0	0	C	98543938	G	C	98543938	4	2	506	1	0	0	0	0	0	1	0	0	16138	1294	45	2	5611	2	TMEM131	2	98543938	Nonsense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	12764395	98543938	144655435	31	97719											
SLC20A1	6574	broad.mit.edu	37	chr2	113416648	113416648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtggacttgaaagaggaaaCcagcatagatagcaccgtga	15	6	12	8	2	0	4	0	2	0	2	0	6	0	6	2	2	3	2	2	2	4	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:113416648C>A	ENST00000272542.3	+	7	1564	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	342					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AAAGAGGAAACCAGCATAGAT	0.468													9	51					9.70103e-10	1.02035e-09	1	0	A	113416648	C	A	113416648	3	1	506	1	0	0	0	0	1	0	0	0	14526	507	18	4	1047	4	SLC20A1	2	113416648	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	14872710	113416648	129782725	32	97720											
DPP10	57628	broad.mit.edu	37	chr2	116572544	116572544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taggttcagtagaagtaaagGaccaaataacagctgtgaag	17	8	11	5	0	1	2	1	1	0	1	1	3	1	3	1	2	2	4	1	2	8	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:116572544G>C	ENST00000410059.1	+	20	2356	c.1876G>C	c.(1876-1878)Gac>Cac	p.D626H	DPP10_ENST00000409163.1_Missense_Mutation_p.D576H|DPP10_ENST00000393147.2_Missense_Mutation_p.D630H|DPP10_ENST00000310323.8_Missense_Mutation_p.D619H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	626					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAAGTAAAGGACCAAATAAC	0.363													22	77					0	0	0	0	C	116572544	G	C	116572544	3	2	506	1	0	0	0	0	1	0	0	0	4763	1174	41	2	2125	2	DPP10	2	116572544	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	3155896	116572544	126626829	33	97721											
SCN1A	6323	broad.mit.edu	37	chr2	166897843	166897843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacagatggtgatggccagGtcaacaaatgggtccatcac	13	8	11	9	0	2	2	2	1	0	1	3	2	3	2	2	4	2	0	2	4	3	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:166897843G>C	ENST00000423058.2	-	13	2330	c.2313C>G	c.(2311-2313)gaC>gaG	p.D771E	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D743E|SCN1A_ENST00000375405.3_Missense_Mutation_p.D760E|SCN1A_ENST00000303395.4_Missense_Mutation_p.D771E|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	771						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGATGGCCAGGTCAACAAATG	0.388													21	119					0	0	0	0	C	166897843	G	C	166897843	3	2	506	1	0	0	0	0	1	0	0	0	14001	1252	44	4	3772	4	SCN1A	2	166897843	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	50325299	166897843	76301530	34	97722											
TTN	7273	broad.mit.edu	37	chr2	179476105	179476105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttgtgctcttacagtctgGgtctttggcaaccacatttt	6	16	8	11	0	3	0	0	0	3	0	3	0	3	0	2	2	3	2	2	2	2	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:179476105G>T	ENST00000589042.1	-	269	51075	c.50851C>A	c.(50851-50853)Cca>Aca	p.P16951T	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15310T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7886T|TTN_ENST00000342992.6_Missense_Mutation_p.P14383T|TTN_ENST00000342175.6_Missense_Mutation_p.P8078T|TTN_ENST00000359218.5_Missense_Mutation_p.P8011T|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15310	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACAGTCTGGGTCTTTGGCA	0.378													4	49					0.014758	0.014758	1	0	T	179476105	G	T	179476105	3	4	506	1	0	0	0	0	1	0	0	0	16831	1232	43	4	57218	4	TTN	2	179476105	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	12578262	179476105	63723268	35	97723											
TTN	7273	broad.mit.edu	37	chr2	179550270	179550270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggctcagcttccactctCttagaaataatgtgcagctt	9	13	8	11	0	2	1	1	0	1	1	4	1	3	1	1	1	3	5	1	1	3	4	rs79232842	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:179550270C>G	ENST00000589042.1	-	128	32591	c.32367G>C	c.(32365-32367)aaG>aaC	p.K10789N	TTN_ENST00000591111.1_Missense_Mutation_p.K10472N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K9545N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10472	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTCTCTTAGAAATAA	0.358													3	21					0	0	0	0	G	179550270	C	G	179550270	3	3	506	1	0	0	0	0	1	0	0	0	16831	912	32	2	72102	2	TTN	2	179550270	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	74165	179550270	63649103	36	97724											
PAX3	5077	broad.mit.edu	37	chr2	223158888	223158888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggcgccaccgcttacctCgctcgctcaggatgccgtcg	6	7	11	17	6	1	0	1	0	0	0	4	1	1	1	4	2	2	3	4	2	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:223158888C>T	ENST00000350526.4	-	4	720	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	PAX3_ENST00000409828.3_Missense_Mutation_p.R195Q|PAX3_ENST00000344493.4_Missense_Mutation_p.R195Q|PAX3_ENST00000336840.6_Missense_Mutation_p.R195Q|PAX3_ENST00000409551.3_Missense_Mutation_p.R194Q|PAX3_ENST00000258387.5_Missense_Mutation_p.R195Q|PAX3_ENST00000392069.2_Missense_Mutation_p.R195Q|PAX3_ENST00000392070.2_Missense_Mutation_p.R195Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	195					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCTTACCTCGCTCGCTCAG	0.612			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						21	87					0	0	0	0	T	223158888	C	T	223158888	3	4	506	1	0	0	0	0	1	0	0	0	11551	884	31	1	1090	1	PAX3	2	223158888	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	43608618	223158888	20040485	37	97725											
ATG16L1	55054	broad.mit.edu	37	chr2	234171780	234171780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgccaatttagtcccGgacatgatggcacatggaat	10	12	11	8	1	0	1	0	1	0	0	1	3	1	3	2	4	1	2	2	4	3	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:234171780G>C	ENST00000392017.4	+	3	471	c.214G>C	c.(214-216)Gga>Cga	p.G72R	ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392020.4_Missense_Mutation_p.G72R|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.G72R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	72					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ATTTAGTCCCGGACATGATGG	0.438													9	50					0	0	0	0	C	234171780	G	C	234171780	3	2	506	1	0	0	0	0	1	0	0	0	1095	1117	39	3	224	3	ATG16L1	2	234171780	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	11012892	234171780	9027593	38	97726											
STK25	10494	broad.mit.edu	37	chr2	242440973	242440973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctcctgctggatgtcctCgatctcatcctcggcctcct	4	13	8	16	2	2	0	1	0	2	0	9	3	5	1	5	2	1	1	5	2	0	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:242440973C>T	ENST00000316586.4	-	3	530	c.181G>A	c.(181-183)Gag>Aag	p.E61K	STK25_ENST00000405883.3_Intron|STK25_ENST00000405585.1_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.E61K|STK25_ENST00000401869.1_Missense_Mutation_p.E61K|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000535007.1_5'UTR	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	61	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGGATGTCCTCGATCTCATCC	0.572													14	38					0	0	0	0	T	242440973	C	T	242440973	3	4	506	1	0	0	0	0	1	0	0	0	15384	893	31	1	1139	1	STK25	2	242440973	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	8269193	242440973	758400	39	97727											
IQSEC1	9922	broad.mit.edu	37	chr3	12978071	12978071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggcgtgacatgcggttctCtgacatggagctgcgcaagc	7	8	14	12	4	1	2	0	2	1	0	2	3	1	3	1	3	4	3	1	3	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:12978071C>G	ENST00000273221.4	-	3	703	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	163	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGCGGTTCTCTGACATGGAG	0.592													10	48					0	0	0	0	G	12978071	C	G	12978071	3	3	506	1	0	0	0	0	1	0	0	0	7870	922	32	2	2997	2	IQSEC1	3	12978071	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		12978071	185044359	40	97728											
CCR9	10803	broad.mit.edu	37	chr3	45943218	45943218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttccacagttgcctgaAccctgttctctatgtttttg	5	18	6	12	0	2	1	0	1	2	0	4	1	3	1	3	0	2	3	3	0	2	7			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:45943218A>G	ENST00000357632.2	+	3	1118	c.938A>G	c.(937-939)aAc>aGc	p.N313S	CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000355983.2_Missense_Mutation_p.N301S|CCR9_ENST00000395963.2_Missense_Mutation_p.N301S|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	313					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGTTGCCTGAACCCTGTTCTC	0.517													17	55					0	0	0	0	G	45943218	A	G	45943218	3	3	506	1	0	0	0	0	1	0	0	0	2977	43	2	5	944	5	CCR9	3	45943218	Missense_Mutation	SNP	A	TCGA-UF-A7JT-01A-11D-A34J-08	32965147	45943218	152079212	41	97729											
SETD2	29072	broad.mit.edu	37	chr3	47079269	47079269	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatcccactgagtctgccTagaaagagacaaaaacagcc	16	5	9	11	0	1	3	0	1	1	2	2	5	2	4	3	1	3	0	3	1	4	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:47079269T>A	ENST00000409792.3	-	18	7281		c.e18-2			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGTCTGCCTAGAAAGAGAC	0.448			"N, F, S, Mis"		clear cell renal carcinoma								14	35					0	0	0	0	A	47079269	T	A	47079269	5	1	506	1	0	0	0	0	0	0	1	0	14218	1536	53	5	473	5	SETD2	3	47079269	Splice_Site	SNP	T	TCGA-UF-A7JT-01A-11D-A34J-08	1136051	47079269	150943161	42	97730											
USP4	7375	broad.mit.edu	37	chr3	49339923	49339923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaggccagcagctcctgaGaatcttgttgctggtagcca	10	9	12	10	0	1	1	0	1	1	1	2	3	2	1	3	2	4	5	3	2	3	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:49339923G>C	ENST00000351842.4	-	9	1048	c.1040C>G	c.(1039-1041)tCt>tGt	p.S347C	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.S394C	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	394					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CAGCTCCTGAGAATCTTGTTG	0.453													19	59					0	0	0	0	C	49339923	G	C	49339923	3	2	506	1	0	0	0	0	1	0	0	0	17167	942	33	2	1762	2	USP4	3	49339923	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2260654	49339923	148682507	43	97731											
OR5K4	403278	broad.mit.edu	37	chr3	98072987	98072987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattatttccctgtatgaatGtatggcacaattttattttc	11	19	5	6	0	0	1	0	1	0	0	2	1	1	1	1	1	0	3	1	1	7	8			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:98072987G>A	ENST00000354924.2	+	1	290	c.290G>A	c.(289-291)tGt>tAt	p.C97Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTGTATGAATGTATGGCACAA	0.453													10	321					0	0	0	0	A	98072987	G	A	98072987	3	1	506	1	0	0	0	0	1	0	0	0	11240	1377	48	4	292	4	OR5K4	3	98072987	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	48733064	98072987	99949443	44	97732											
IQCB1	9657	broad.mit.edu	37	chr3	121514306	121514306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaccaaatttttttacctGaaactcctctgcaaagcaat	13	13	3	12	0	2	1	1	1	1	0	3	1	3	1	3	0	4	2	3	0	5	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:121514306G>C	ENST00000310864.6	-	10	1198	c.984C>G	c.(982-984)ttC>ttG	p.F328L	IQCB1_ENST00000349820.6_Intron	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	328	IQ 2.				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTTTTTACCTGAAACTCCTCT	0.348													36	133					0	0	0	0	C	121514306	G	C	121514306	3	2	506	1	0	0	0	0	1	0	0	0	7856	1281	45	2	836	2	IQCB1	3	121514306	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	23441319	121514306	76508124	45	97733											
ATR	545	broad.mit.edu	37	chr3	142281507	142281507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaaaaagctaattgctaggGatttaatttttggactacca	14	15	7	5	0	0	0	0	0	0	0	0	2	0	2	1	2	3	2	1	2	7	9			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:142281507G>A	ENST00000350721.4	-	4	858	c.737C>T	c.(736-738)tCc>tTc	p.S246F	ATR_ENST00000383101.3_Missense_Mutation_p.S246F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	246					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			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						AATTGCTAGGGATTTAATTTT	0.358								Other conserved DNA damage response genes					6	55					0	0	0	0	A	142281507	G	A	142281507	3	1	506	1	0	0	0	0	1	0	0	0	1208	1174	41	2	7373	2	ATR	3	142281507	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	20767201	142281507	55740923	46	97734											
GMPS	8833	broad.mit.edu	37	chr3	155632226	155632226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgataaatgctgctcattCtttctacaatggaacaacaa	15	12	6	8	0	3	1	1	1	2	0	3	2	3	2	0	1	5	2	0	1	7	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:155632226C>G	ENST00000496455.1	+	8	1240	c.905C>G	c.(904-906)tCt>tGt	p.S302C	GMPS_ENST00000295920.7_Missense_Mutation_p.S203C	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	302					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.S302F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTGCTCATTCTTTCTACAAT	0.343			T	MLL	AML								12	62					0	0	0	0	G	155632226	C	G	155632226	3	3	506	1	0	0	0	0	1	0	0	0	6549	913	32	2	935	2	GMPS	3	155632226	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	13350719	155632226	42390204	47	97735											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540060	169540060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgtcgttgtcagcttcctCcacgccctgcgcgagctccg	3	11	10	17	5	1	0	1	0	0	0	5	1	4	0	4	0	3	3	4	0	0	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:169540060C>T	ENST00000340806.6	+	1	351	c.351C>T	c.(349-351)ctC>ctT	p.L117L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	117										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCAGCTTCCTCCACGCCCTGC	0.617													16	88					0	0	0	0	T	169540060	C	T	169540060	2	4	506	1	0	0	0	0	0	0	0	1	9095	842	30	2		2	LRRIQ4	3	169540060	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	13907834	169540060	28482370	48	97736											
ATP11B	23200	broad.mit.edu	37	chr3	182553928	182553928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaactagatcaaaaaacattCgggtatgcatctggtaaata	18	10	7	6	1	2	1	1	0	1	1	3	1	2	1	0	2	3	3	0	2	9	5	rs35764399		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:182553928C>T	ENST00000323116.5	+	5	681	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	ATP11B_ENST00000493826.1_Missense_Mutation_p.R141W|ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	141					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAAAAACATTCGGGTATGCAT	0.338													15	26					0	0	0	0	T	182553928	C	T	182553928	3	4	506	1	0	0	0	0	1	0	0	0	1124	875	31	1	439	1	ATP11B	3	182553928	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	13013868	182553928	15468502	49	97737											
MAP3K13	9175	broad.mit.edu	37	chr3	185184677	185184677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacaccctgttcgtcctatCatccatcccaatgccatgga	9	10	6	16	2	1	0	1	0	0	0	5	2	4	1	5	1	1	1	5	1	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:185184677C>T	ENST00000265026.3	+	10	1903	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	MAP3K13_ENST00000446828.1_Silent_p.I316I|MAP3K13_ENST00000443863.1_Silent_p.I379I|MAP3K13_ENST00000535426.1_Silent_p.I379I|MAP3K13_ENST00000424227.1_Silent_p.I523I	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	523					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCGTCCTATCATCCATCCCA	0.483													19	66					0	0	0	0	T	185184677	C	T	185184677	2	4	506	1	0	0	0	0	0	0	0	1	9316	816	29	2		2	MAP3K13	3	185184677	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	2630749	185184677	12837753	50	97738											
STIM2	57620	broad.mit.edu	37	chr4	27009227	27009227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctgttccagatgcacttCagaaatggcttcagttaaca	11	12	9	9	0	3	2	2	0	1	2	4	2	4	2	1	2	2	4	1	2	2	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:27009227C>T	ENST00000382009.3	+	8	1582	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*	STIM2_ENST00000467087.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000467011.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.Q439*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.Q439*	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	352					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGATGCACTTCAGAAATGGCT	0.403													26	68					0	0	0	0	T	27009227	C	T	27009227	4	4	506	1	0	0	0	0	0	1	0	0	15374	827	29	2	1084	2	STIM2	4	27009227	Nonsense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		27009227	164145049	51	97739											
SCLT1	132320	broad.mit.edu	37	chr4	129920853	129920853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttgactttcaaatacatGaatctgggcctcagtcatat	11	16	6	8	0	4	2	3	2	1	0	4	2	4	2	1	1	1	0	1	1	4	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:129920853G>A	ENST00000281142.5	-	7	1026	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	SCLT1_ENST00000503215.1_Missense_Mutation_p.H152Y|SCLT1_ENST00000434680.1_Missense_Mutation_p.H175Y|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	175						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCAAATACATGAATCTGGGCC	0.378													13	80					0	0	0	0	A	129920853	G	A	129920853	3	1	506	1	0	0	0	0	1	0	0	0	13993	1290	45	2	1603	2	SCLT1	4	129920853	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	102911626	129920853	61233423	52	97740											
DCLK2	166614	broad.mit.edu	37	chr4	151114318	151114318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagacttttttggtgAtgacgatgtttttattgcat	8	19	9	5	1	1	3	0	2	1	1	1	4	1	3	0	1	2	3	0	1	2	7			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:151114318A>G	ENST00000296550.7	+	3	1539	c.785A>G	c.(784-786)gAt>gGt	p.D262G	DCLK2_ENST00000302176.8_Missense_Mutation_p.D262G|DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000506325.1_Missense_Mutation_p.D262G	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	262	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTTTTTGGTGATGACGATGTT	0.343													51	72					0	0	0	0	G	151114318	A	G	151114318	3	3	506	1	0	0	0	0	1	0	0	0	4324	333	12	5	795	5	DCLK2	4	151114318	Missense_Mutation	SNP	A	TCGA-UF-A7JT-01A-11D-A34J-08	21193465	151114318	40039958	53	97741											
FSTL5	56884	broad.mit.edu	37	chr4	162697095	162697095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaatatttaaacatttgatCcaccaatagcttcttccgag	15	13	4	9	1	1	1	0	1	1	0	3	2	3	1	3	0	2	1	3	0	7	7			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:162697095C>T	ENST00000306100.5	-	5	977	c.541G>A	c.(541-543)Gat>Aat	p.D181N	FSTL5_ENST00000379164.4_Missense_Mutation_p.D180N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D180N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D180N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	181	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AACATTTGATCCACCAATAGC	0.289													12	87					0	0	0	0	T	162697095	C	T	162697095	3	4	506	1	0	0	0	0	1	0	0	0	6128	855	30	2	2050	2	FSTL5	4	162697095	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	11582777	162697095	28457181	54	97742											
FAT1	2195	broad.mit.edu	37	chr4	187540893	187540894	+	Frame_Shift_Del	DEL	AC	AC	-																															cgcataagactgctgagcaaAcacaggagggttatcattga																										TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:187540893_187540894delAC	ENST00000441802.2	-	10	7055_7056	c.6846_6847delGT	c.(6844-6849)gtttfs	p.VF2282fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2282	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTGAGCAAACACAGGAGGGT	0.465										HNSCC(5;0.00058)			54	75	---	---	---	---					-	187540894	AC	-	187540893	7	5	506	1	0	1	0	1	0	0	0	0	5734	43	2	0	6991	0	FAT1	4	187540893	Frame_Shift_Del	DEL	AC	TCGA-UF-A7JT-01A-11D-A34J-08	24843798	187540893	3613383	55	97743											
GHR	2690	broad.mit.edu	37	chr5	42695050	42695050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggactcaagaatggaaaGaatgccctgattatgtttct	14	12	9	6	0	2	3	1	1	1	2	2	5	2	5	1	2	1	1	1	2	6	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:42695050G>C	ENST00000230882.4	+	5	488	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E78Q	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	100					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	agaatggaAAGAATGCCCTGA	0.358													22	39					0	0	0	0	C	42695050	G	C	42695050	3	2	506	1	0	0	0	0	1	0	0	0	6422	943	33	2	312	2	GHR	5	42695050	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		42695050	138220210	56	97744											
SLC38A9	153129	broad.mit.edu	37	chr5	54960618	54960618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaaggagaaaaggagactCgaccactgcccaaaggagcc	16	2	11	12	1	0	2	0	0	0	2	1	6	0	3	4	3	2	0	4	3	4	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:54960618C>T	ENST00000539768.1	-	6	599	c.600G>A	c.(598-600)tcG>tcA	p.S200S	SLC38A9_ENST00000416547.2_Silent_p.S76S|SLC38A9_ENST00000396865.2_Silent_p.S200S|SLC38A9_ENST00000318672.3_Silent_p.S200S|SLC38A9_ENST00000515629.1_Silent_p.S137S|SLC38A9_ENST00000512595.1_Silent_p.S173S			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	200					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAAGGAGACTCGACCACTGCC	0.363													4	110					0	0	0	0	T	54960618	C	T	54960618	2	4	506	1	0	0	0	0	0	0	0	1	14699	871	31	1		1	SLC38A9	5	54960618	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	12265568	54960618	125954642	57	97745											
APC	324	broad.mit.edu	37	chr5	112177070	112177070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcagcctaaacccataCttcagaaacaatccactttt	14	10	5	12	0	2	1	2	0	0	1	3	2	3	1	3	1	4	0	3	1	5	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:112177070C>T	ENST00000457016.1	+	16	6159	c.5779C>T	c.(5779-5781)Ctt>Ttt	p.L1927F	APC_ENST00000257430.4_Missense_Mutation_p.L1927F|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L1927F			P25054	APC_HUMAN	adenomatous polyposis coli	1927	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAAACCCATACTTCAGAAACA	0.418		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			22	61					0	0	0	0	T	112177070	C	T	112177070	3	4	506	1	0	0	0	0	1	0	0	0	764	565	20	4	5837	4	APC	5	112177070	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	57216452	112177070	68738190	58	97746											
PCDHA1	56147	broad.mit.edu	37	chr5	140165895	140165895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatggtgttttctaggagagGgggcctgggagcccgggatc	7	9	18	7	1	1	1	0	0	1	1	2	4	1	3	2	6	1	1	2	6	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140165895G>A	ENST00000504120.2	+	1	20	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G7E|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G7E	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGGAGAGGGGGCCTGGGA	0.502													22	103					0	0	0	0	A	140165895	G	A	140165895	3	1	506	1	0	0	0	0	1	0	0	0	11590	1232	43	4	22	4	PCDHA1	5	140165895	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	27988825	140165895	40749365	59	97747											
PCDHA8	56140	broad.mit.edu	37	chr5	140222520	140222520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaggtgagcgcgcgCgacgcgggcgtgccgcctct	4	6	16	15	8	1	1	0	1	1	0	2	2	2	1	3	2	2	1	3	2	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140222520C>T	ENST00000531613.1	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.R538R	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.672													42	170					0	0	0	0	T	140222520	C	T	140222520	2	4	506	1	0	0	0	0	0	0	0	1	11601	755	27	1		1	PCDHA8	5	140222520	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	56625	140222520	40692740	60	97748											
PCDHA9	9752	broad.mit.edu	37	chr5	140230326	140230326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagcgcggtggggagttggtCgtactcgcagcagaggaggc	7	7	19	8	4	0	1	0	0	0	1	2	3	0	3	0	6	3	4	0	6	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140230326C>T	ENST00000378122.3	+	1	2970	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	PCDHA9_ENST00000532602.1_Missense_Mutation_p.S749L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTTGGTCGTACTCGCAG	0.647													6	133					0	0	0	0	T	140230326	C	T	140230326	3	4	506	1	0	0	0	0	1	0	0	0	11602	893	31	1	2248	1	PCDHA9	5	140230326	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	7806	140230326	40684934	61	97749											
GABRP	2568	broad.mit.edu	37	chr5	170236718	170236718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctagaatatgcagttGctcactacagttccttacag	10	13	7	11	0	1	1	1	0	0	1	2	1	2	1	2	0	5	5	2	0	5	7			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:170236718G>T	ENST00000518525.1	+	10	1443	c.979G>T	c.(979-981)Gct>Tct	p.A327S	GABRP_ENST00000265294.4_Missense_Mutation_p.A327S|GABRP_ENST00000519598.1_Missense_Mutation_p.A327S|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	327						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATATGCAGTTGCTCACTACAG	0.498											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	70					2.21704e-12	2.36007e-12	1	0	T	170236718	G	T	170236718	3	4	506	1	0	0	0	0	1	0	0	0	6222	1319	46	4	1009	4	GABRP	5	170236718	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	30006392	170236718	10678542	62	97750											
GFPT2	9945	broad.mit.edu	37	chr5	179762846	179762846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgttgcctttgtctgagcGctgagggtggctgttgacag	5	12	15	9	2	1	3	0	3	1	0	1	3	1	3	2	2	2	4	2	2	0	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:179762846G>A	ENST00000253778.8	-	4	491	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	108	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTGTCTGAGCGCTGAGGGTGG	0.612													19	50					0	0	0	0	A	179762846	G	A	179762846	3	1	506	1	0	0	0	0	1	0	0	0	6397	1087	38	1	1790	1	GFPT2	5	179762846	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	9526128	179762846	1152414	63	97751											
HLA-A	3105	broad.mit.edu	37	chr6	29910696	29910696	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccgtggatagagcaggAggggccggagtattgggacc	8	5	20	8	3	0	1	0	0	0	1	0	5	0	5	3	7	1	2	3	7	2	3	rs75991672		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29910696A>G	ENST00000396634.1	+	4	577	c.236A>G	c.(235-237)gAg>gGg	p.E79G	HLA-A_ENST00000376802.2_Missense_Mutation_p.E79G|HLA-A_ENST00000376809.5_Missense_Mutation_p.E79G|HLA-A_ENST00000376806.5_Missense_Mutation_p.E79G			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	79	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ATAGAGCAGGAGGGGCCGGAG	0.652									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			14	24					0	0	0	0	G	29910696	A	G	29910696	3	3	506	1	0	0	0	0	1	0	0	0	7245	304	11	5	242	5	HLA-A	6	29910696	Missense_Mutation	SNP	A	TCGA-UF-A7JT-01A-11D-A34J-08		29910696	141204371	64	97752			1	164		3	3	409	N	G_C_A	4.300077e-06
HLA-A	3105	broad.mit.edu	37	chr6	29911088	29911088	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatggctgcgacgtggggtcGgacgggcgcttcctccgcgg	3	8	18	12	7	0	0	0	0	0	0	3	2	2	1	2	6	1	2	2	6	1	2	rs45505094		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29911088G>C	ENST00000396634.1	+	5	728	c.387G>C	c.(385-387)tcG>tcC	p.S129S	HLA-A_ENST00000376802.2_Silent_p.S129S|HLA-A_ENST00000376809.5_Silent_p.S129S|HLA-A_ENST00000376806.5_Silent_p.S129S			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	129	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACGTGGGGTCGGACGGGCGCT	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			9	33					0	0	0	0	C	29911088	G	C	29911088	2	2	506	1	0	0	0	0	0	0	0	1	7245	1103	39	3		3	HLA-A	6	29911088	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	392	29911088	141203979	65	97753			1	164		3	3	409	N	G_C_A	4.300077e-06
HLA-A	3105	broad.mit.edu	37	chr6	29911104	29911104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggacgggcgcttcctcCgcgggtaccggcaggacgcc	4	5	17	15	7	0	0	0	0	0	0	3	2	2	2	4	6	1	3	4	6	1	2	rs41543413		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29911104C>T	ENST00000396634.1	+	5	744	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	HLA-A_ENST00000376802.2_Missense_Mutation_p.R135C|HLA-A_ENST00000376809.5_Missense_Mutation_p.R135C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R135C			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	135	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGCTTCCTCCGCGGGTACCG	0.672									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			8	28					0	0	0	0	T	29911104	C	T	29911104	3	4	506	1	0	0	0	0	1	0	0	0	7245	652	23	1	413	1	HLA-A	6	29911104	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	16	29911104	141203963	66	97754			1	164		3	3	409	N	G_C_A	4.300077e-06
HLA-B	3106	broad.mit.edu	37	chr6	31323241	31323241	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacaagctcagtgtcctGagtttggtcctcgccatccc	6	11	8	16	1	1	1	1	1	0	0	6	1	5	1	5	1	1	2	5	1	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:31323241G>A	ENST00000412585.2	-	4	776	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				26	95					0	0	0	0	A	31323241	G	A	31323241	4	1	506	1	0	0	0	0	0	1	0	0	7246	1299	45	2	356	2	HLA-B	6	31323241	Nonsense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1412137	31323241	139791826	67	97755											
BYSL	705	broad.mit.edu	37	chr6	41897940	41897940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttgagacagtcatgtcaGaggtgtcgggcttccctatg	8	11	14	8	1	2	2	2	1	0	2	4	3	3	2	1	3	0	2	1	3	1	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:41897940G>A	ENST00000230340.4	+	3	877	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	168					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		p.E168*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGTCATGTCAGAGGTGTCGGG	0.597													6	48					0	0	0	0	A	41897940	G	A	41897940	3	1	506	1	0	0	0	0	1	0	0	0	1585	943	33	2	512	2	BYSL	6	41897940	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	10574699	41897940	129217127	68	97756											
TRERF1	55809	broad.mit.edu	37	chr6	42196408	42196408	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgatcttgaagaagactCtaaaaataaagaaagagagg	19	10	9	3	0	2	6	0	2	2	4	2	7	2	6	0	1	0	0	0	1	8	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:42196408C>G	ENST00000541110.1	-	18	3907		c.e18-1		TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site|TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGAAGACTCTAAAAATAAA	0.458													83	225					0	0	0	0	G	42196408	C	G	42196408	5	3	506	1	0	0	0	0	0	0	1	0	16570	927	32	2	328	2	TRERF1	6	42196408	Splice_Site	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	298468	42196408	128918659	69	97757											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221252	44221252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagatgaagtggcagcaGaggaacccaatgctgcagtt	14	7	13	7	0	0	4	0	2	0	2	0	5	0	5	1	2	4	5	1	2	4	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:44221252G>C	ENST00000371554.1	+	12	2306	c.2092G>C	c.(2092-2094)Gag>Cag	p.E698Q	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E698Q|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E698Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	698					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTGGCAGCAGAGGAACCCAA	0.463											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	60					0	0	0	0	C	44221252	G	C	44221252	3	2	506	1	0	0	0	0	1	0	0	0	7454	943	33	2	2134	2	HSP90AB1	6	44221252	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2024844	44221252	126893815	70	97758											
TFAP2B	7021	broad.mit.edu	37	chr6	50807953	50807953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctgagtatttgaaccGgcagcacacagacccgagtg	10	8	11	12	3	1	3	0	2	1	1	2	4	1	3	2	1	2	3	2	1	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:50807953G>A	ENST00000263046.4	+	7	1218	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.R342Q			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	342					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TATTTGAACCGGCAGCACACA	0.512													26	102					0	0	0	0	A	50807953	G	A	50807953	3	1	506	1	0	0	0	0	1	0	0	0	15882	1116	39	1	1047	1	TFAP2B	6	50807953	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	6586701	50807953	120307114	71	97759											
PKHD1	5314	broad.mit.edu	37	chr6	51618085	51618085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgaatttgtatatttCgggtcaacagtccaacctca	11	12	8	10	1	2	1	2	1	0	0	4	1	3	1	2	2	2	2	2	2	5	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:51618085C>A	ENST00000371117.3	-	57	9139	c.8864G>T	c.(8863-8865)cGa>cTa	p.R2955L	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2955L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2955					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGTATATTTCGGGTCAACAG	0.458													14	79					9.31168e-06	9.60267e-06	1	0	A	51618085	C	A	51618085	3	1	506	1	0	0	0	0	1	0	0	0	12043	884	31	3	3443	3	PKHD1	6	51618085	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	810132	51618085	119496982	72	97760											
KHDRBS2	202559	broad.mit.edu	37	chr6	62887133	62887133	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtactctttctgagagcTttatgtttttgttgctgatg	6	20	9	6	0	3	2	1	2	2	1	3	3	3	2	0	0	3	5	0	0	2	7			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:62887133T>C	ENST00000281156.4	-	2	454	c.176A>G	c.(175-177)aAg>aGg	p.K59R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCTGAGAGCTTTATGTTTTT	0.323													23	64					0	0	0	0	C	62887133	T	C	62887133	3	2	506	1	0	0	0	0	1	0	0	0	8198	1609	56	5	905	5	KHDRBS2	6	62887133	Missense_Mutation	SNP	T	TCGA-UF-A7JT-01A-11D-A34J-08	11269048	62887133	108227934	73	97761											
DDX43	55510	broad.mit.edu	37	chr6	74104733	74104733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggccggcggaggagttGaatcgaacaggtcctgaggg	10	5	19	7	3	0	2	0	2	0	0	2	6	1	5	2	7	1	1	2	7	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:74104733G>A	ENST00000370336.4	+	1	263	c.105G>A	c.(103-105)ttG>ttA	p.L35L	OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Silent_p.L35L	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	35						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGAGGAGTTGAATCGAACAG	0.657													29	91					0	0	0	0	A	74104733	G	A	74104733	2	1	506	1	0	0	0	0	0	0	0	1	4395	1281	45	2		2	DDX43	6	74104733	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	11217600	74104733	97010334	74	97762											
LAMA4	3910	broad.mit.edu	37	chr6	112510351	112510353	+	In_Frame_Del	DEL	CTT	CTT	-																															gcctgtagggggttcaaaacCttcttccaagcattctccgg																										TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:112510351_112510353delCTT	ENST00000230538.7	-	7	1170_1172	c.773_775delAAG	c.(772-777)ggt>g	p.EG258del	LAMA4_ENST00000522006.1_In_Frame_Del_p.EG258del|LAMA4_ENST00000424408.2_In_Frame_Del_p.EG258del|LAMA4_ENST00000389463.4_In_Frame_Del_p.EG258del	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	258	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTCAAAACCTTCTTCCAAGCA	0.468													22	69	---	---	---	---					-	112510353	CTT	-	112510351	7	5	506	1	0	1	0	1	0	0	0	0	8661	681	24	0	4828	0	LAMA4	6	112510351	In_Frame_Del	DEL	CTT	TCGA-UF-A7JT-01A-11D-A34J-08	38405618	112510351	58604716	75	97763											
ALDH8A1	64577	broad.mit.edu	37	chr6	135271181	135271181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatcaaaagtgcgtttGttccagccatagcaaggaaa	14	8	9	10	1	1	0	1	0	0	0	2	1	2	1	3	1	4	4	3	1	5	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:135271181G>A	ENST00000265605.2	-	1	79	c.11C>T	c.(10-12)aCa>aTa	p.T4I	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T4I|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T4I	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	4					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AAGTGCGTTTGTTCCAGCCAT	0.453													30	107					0	0	0	0	A	135271181	G	A	135271181	3	1	506	1	0	0	0	0	1	0	0	0	505	1377	48	4	1480	4	ALDH8A1	6	135271181	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	22760830	135271181	35843886	76	97764											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161875	151161875	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgcactccaaaaaagccggTtaacagcaaacttggccttt	13	8	8	12	2	0	0	0	0	0	0	1	0	1	0	3	2	4	3	3	2	5	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:151161875T>A	ENST00000367328.1	+	17	4313	c.4001T>A	c.(4000-4002)gTt>gAt	p.V1334D	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V1334D	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1334					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAAAGCCGGTTAACAGCAAA	0.418													41	120					0	0	0	0	A	151161875	T	A	151161875	3	1	506	1	0	0	0	0	1	0	0	0	12140	1725	60	5	4059	5	PLEKHG1	6	151161875	Missense_Mutation	SNP	T	TCGA-UF-A7JT-01A-11D-A34J-08	15890694	151161875	19953192	77	97765											
SYNE1	23345	broad.mit.edu	37	chr6	152728177	152728177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaagcagttcttcagctCtgaggtggttatccaggttg	7	15	11	8	0	3	1	1	1	2	0	4	1	4	1	1	3	2	5	1	3	2	6			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:152728177C>T	ENST00000367255.5	-	45	7296	c.6695G>A	c.(6694-6696)aGa>aAa	p.R2232K	SYNE1_ENST00000265368.4_Missense_Mutation_p.R2232K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R2269K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R2239K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R2239K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2232					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCAGCTCTGAGGTGGTT	0.408										HNSCC(10;0.0054)			14	76					0	0	0	0	T	152728177	C	T	152728177	3	4	506	1	0	0	0	0	1	0	0	0	15536	913	32	2	20179	2	SYNE1	6	152728177	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	1566302	152728177	18386890	78	97766											
INTS1	26173	broad.mit.edu	37	chr7	1538445	1538445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggaaccgtgcgtgttgcagTtcatgcagacggacatcagc	9	8	13	11	4	2	1	2	0	0	1	2	3	2	3	1	2	5	4	1	2	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:1538445T>C	ENST00000389470.4	-	10	1564	c.1565A>G	c.(1564-1566)aAc>aGc	p.N522S	INTS1_ENST00000404767.3_Missense_Mutation_p.N394S			Q8N201	INT1_HUMAN	integrator complex subunit 1	394					snRNA processing	integral to membrane|integrator complex|nuclear membrane				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)		CGTGTTGCAGTTCATGCAGAC	0.632													3	12					0	0	0	0	C	1538445	T	C	1538445	3	2	506	1	0	0	0	0	1	0	0	0	7828	1725	60	5	5551	5	INTS1	7	1538445	Missense_Mutation	SNP	T	TCGA-UF-A7JT-01A-11D-A34J-08		1538445	157600218	79	97767											
PAPOLB	56903	broad.mit.edu	37	chr7	4901301	4901301	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgaagaccccgaagggcctGagggtttctattagcctctg	8	10	12	11	2	2	2	0	1	2	1	3	4	2	2	4	2	1	1	4	2	4	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:4901301G>C	ENST00000404991.1	-	1	324	c.138C>G	c.(136-138)ctC>ctG	p.L46L	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	46					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CGAAGGGCCTGAGGGTTTCTA	0.537													5	24					0	0	0	0	C	4901301	G	C	4901301	2	2	506	1	0	0	0	0	0	0	0	1	11501	1277	45	2		2	PAPOLB	7	4901301	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	3362856	4901301	154237362	80	97768											
RAC1	5879	broad.mit.edu	37	chr7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctggagtgctcggCgctcacacagcgaggcctca	11	6	11	13	3	2	0	2	0	0	0	3	2	2	1	2	3	3	2	2	3	3	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567													23	82					0	0	0	0	T	6441974	C	T	6441974	3	4	506	1	0	0	0	0	1	0	0	0	13056	768	27	1	559	1	RAC1	7	6441974	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	1540673	6441974	152696689	81	97769											
PCLO	27445	broad.mit.edu	37	chr7	82595455	82595455	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggattagttttttttCttcagggagtggcttttttt	5	22	10	4	0	3	0	2	0	1	0	3	2	3	2	0	3	0	2	0	3	1	10			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:82595455C>A	ENST00000423517.2	-	4	3986	c.3649G>T	c.(3649-3651)Gaa>Taa	p.E1217*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.E1217*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1156					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTTTTTTTCTTCAGGGAGT	0.373													49	164					4.21674e-32	4.69712e-32	1	0	A	82595455	C	A	82595455	4	1	506	1	0	0	0	0	0	1	0	0	11654	922	32	2	11884	2	PCLO	7	82595455	Nonsense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	76153481	82595455	76543208	82	97770											
NRCAM	4897	broad.mit.edu	37	chr7	107800849	107800849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctgatgaagcaaacaatCagcaaaattaagataaggag	19	8	8	6	0	2	3	1	2	1	1	2	4	2	4	0	1	3	2	0	1	7	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:107800849C>T	ENST00000379028.3	-	31	4025	c.3555G>A	c.(3553-3555)ctG>ctA	p.L1185L	NRCAM_ENST00000379024.4_Silent_p.L1073L|NRCAM_ENST00000351718.4_Silent_p.L1064L|NRCAM_ENST00000425651.2_Silent_p.L1185L|NRCAM_ENST00000413765.2_Silent_p.L1061L|NRCAM_ENST00000379022.4_Silent_p.L1185L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1185					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCAAACAATCAGCAAAATTA	0.378													25	68					0	0	0	0	T	107800849	C	T	107800849	2	4	506	1	0	0	0	0	0	0	0	1	10715	813	29	2		2	NRCAM	7	107800849	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	25205394	107800849	51337814	83	97771											
CADPS2	93664	broad.mit.edu	37	chr7	122269330	122269330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctgccaattgcagcCggccatcaagttcccttctg	7	14	7	13	1	3	0	1	0	2	0	4	0	4	0	4	1	3	2	4	1	3	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:122269330C>A	ENST00000334010.7	-	4	1260	c.839G>T	c.(838-840)cGg>cTg	p.R280L	CADPS2_ENST00000449022.2_Missense_Mutation_p.R280L|CADPS2_ENST00000412584.2_Missense_Mutation_p.R280L|CADPS2_ENST00000313070.7_Missense_Mutation_p.R280L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	280					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAATTGCAGCCGGCCATCAAG	0.358													5	23					3.59834e-05	3.6678e-05	1	0	A	122269330	C	A	122269330	3	1	506	1	0	0	0	0	1	0	0	0	2596	652	23	3	3203	3	CADPS2	7	122269330	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	14468481	122269330	36869333	84	97772											
GCC1	79571	broad.mit.edu	37	chr7	127224969	127224969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagtgctatcctcgctgtGagtggagcaccggtcatcca	7	9	11	14	2	1	1	1	1	0	0	4	2	3	2	4	2	2	3	4	2	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:127224969G>C	ENST00000321407.2	-	1	692	c.268C>G	c.(268-270)Cac>Gac	p.H90D	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	90						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCTCGCTGTGAGTGGAGCAC	0.607													6	58					0	0	0	0	C	127224969	G	C	127224969	3	2	506	1	0	0	0	0	1	0	0	0	6334	1290	45	2	2067	2	GCC1	7	127224969	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	4955639	127224969	31913694	85	97773											
KIAA1549	57670	broad.mit.edu	37	chr7	138603353	138603353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtcacagtggggtatgttCttggagagatggtttcttct	7	15	13	6	0	4	1	1	0	3	1	4	3	4	2	0	4	0	3	0	4	1	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:138603353C>G	ENST00000440172.1	-	2	1067	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R340T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R290T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	340						integral to membrane		p.R290I(1)|p.R340I(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGTATGTTCTTGGAGAGAT	0.507			O	BRAF	pilocytic astrocytoma								18	148					0	0	0	0	G	138603353	C	G	138603353	3	3	506	1	0	0	0	0	1	0	0	0	8295	913	32	2	4909	2	KIAA1549	7	138603353	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	11378384	138603353	20535310	86	97774											
GIMAP1	170575	broad.mit.edu	37	chr7	150416150	150416150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaagcatgggaggaaggaaGatggcgacagatgaagaaaa	18	4	16	3	1	0	4	0	1	0	3	0	8	0	7	0	4	1	2	0	4	6	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:150416150G>C	ENST00000307194.5	+	2	155	c.15G>C	c.(13-15)aaG>aaC	p.K5N		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGAAGGAAGATGGCGACAG	0.418													25	52					0	0	0	0	C	150416150	G	C	150416150	3	2	506	1	0	0	0	0	1	0	0	0	6430	933	33	2	17	2	GIMAP1	7	150416150	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	11812797	150416150	8722513	87	97775											
ANGPT2	285	broad.mit.edu	37	chr8	6366505	6366505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtcgttgtctccatcCtttgtgctaaaatcatttcc	7	18	5	11	1	2	0	1	0	1	0	6	0	4	0	3	0	1	2	3	0	2	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:6366505C>T	ENST00000325203.5	-	8	1752	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	ANGPT2_ENST00000523120.1_Silent_p.K425K|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Silent_p.K425K|ANGPT2_ENST00000338312.6_Silent_p.K374K			O15123	ANGP2_HUMAN	angiopoietin 2	426	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGTCTCCATCCTTTGTGCTAA	0.403													16	77					0	0	0	0	T	6366505	C	T	6366505	2	4	506	1	0	0	0	0	0	0	0	1	611	680	24	4		4	ANGPT2	8	6366505	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		6366505	139997517	88	97776											
PCM1	5108	broad.mit.edu	37	chr8	17830019	17830019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagacgccagtttgatgaaGaatcactggaaagctttagc	14	9	11	7	1	1	4	1	2	0	2	1	6	1	5	1	1	2	2	1	1	5	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:17830019G>A	ENST00000325083.8	+	23	4205	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K	PCM1_ENST00000524226.1_Missense_Mutation_p.E1257K|PCM1_ENST00000519253.1_Missense_Mutation_p.E1256K	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1256					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTTGATGAAGAATCACTGGA	0.403			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								13	55					0	0	0	0	A	17830019	G	A	17830019	3	1	506	1	0	0	0	0	1	0	0	0	11655	943	33	2	3848	2	PCM1	8	17830019	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	11463514	17830019	128534003	89	97777											
PRKDC	5591	broad.mit.edu	37	chr8	48761721	48761721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtgttcactcacctatgtCtcatgacttgaacgaagtcc	10	13	7	11	1	3	2	3	2	1	0	5	3	4	2	2	0	1	1	2	0	4	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:48761721C>G	ENST00000314191.2	-	55	7327	c.7271G>C	c.(7270-7272)aGa>aCa	p.R2424T	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2424T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2425					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCACCTATGTCTCATGACTTG	0.463								Non-homologous end-joining					23	67					0	0	0	0	G	48761721	C	G	48761721	3	3	506	1	0	0	0	0	1	0	0	0	12601	913	32	2	5244	2	PRKDC	8	48761721	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	30931702	48761721	97602301	90	97778											
ARFGEF1	10565	broad.mit.edu	37	chr8	68139438	68139438	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgatcagatgcagctaGatgaaatacagagaaaatgt	17	10	9	5	0	2	5	1	2	1	3	2	6	2	5	0	0	3	2	0	0	5	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:68139438G>C	ENST00000262215.3	-	27	4239	c.3850C>G	c.(3850-3852)Cta>Gta	p.L1284V	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.L122V|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L738V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1284					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GATGCAGCTAGATGAAATACA	0.398													17	85					0	0	0	0	C	68139438	G	C	68139438	3	2	506	1	0	0	0	0	1	0	0	0	854	933	33	2	1751	2	ARFGEF1	8	68139438	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	19377717	68139438	78224584	91	97779											
KCNB2	9312	broad.mit.edu	37	chr8	73849824	73849824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcaccacagctgacttttCgctcactaccccgcagcaca	10	8	6	17	2	2	1	2	1	0	0	3	1	2	1	3	0	3	4	3	0	1	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:73849824C>T	ENST00000523207.1	+	3	2822	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	745					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTGACTTTTCGCTCACTACC	0.562													28	128					0	0	0	0	T	73849824	C	T	73849824	3	4	506	1	0	0	0	0	1	0	0	0	8066	893	31	1	2240	1	KCNB2	8	73849824	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	5710386	73849824	72514198	92	97780											
VPS13B	157680	broad.mit.edu	37	chr8	100883892	100883892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaacttactcacagtgcaGctcaagcagccaagagtggc	14	6	9	12	0	2	1	2	0	0	1	2	1	2	1	1	1	7	3	1	1	5	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:100883892G>A	ENST00000358544.2	+	61	11898	c.11787G>A	c.(11785-11787)caG>caA	p.Q3929Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.Q3904Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3929					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACAGTGCAGCTCAAGCAGC	0.552													113	191					0	0	0	0	A	100883892	G	A	100883892	2	1	506	1	0	0	0	0	0	0	0	1	17286	962	34	4		4	VPS13B	8	100883892	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	27034068	100883892	45480130	93	97781											
HAS2	3037	broad.mit.edu	37	chr8	122641508	122641508	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatataagcagctgtgattcCaaggaggagagagactccaa	16	7	11	7	0	0	3	0	1	0	2	2	6	2	4	2	2	2	2	2	2	5	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:122641508C>A	ENST00000303924.4	-	2	610	c.73G>T	c.(73-75)Gga>Tga	p.G25*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	25						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTGTGATTCCAAGGAGGAGA	0.393													44	62					2.37825e-27	2.62702e-27	1	0	A	122641508	C	A	122641508	4	1	506	1	0	0	0	0	0	1	0	0	7012	603	21	4	1597	4	HAS2	8	122641508	Nonsense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	21757616	122641508	23722514	94	97782											
PLEC	5339	broad.mit.edu	37	chr8	144996950	144996950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacgcagcttgaggcgctCagcctcagcgctcatctcca	8	7	9	17	3	4	1	3	1	1	0	5	1	4	1	2	1	3	4	2	1	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:144996950C>T	ENST00000322810.4	-	31	7727	c.7558G>A	c.(7558-7560)Gag>Aag	p.E2520K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2410K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2369K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2361K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2383K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2387K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2406K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2351K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2383K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2520	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGAGGCGCTCAGCCTCAGCG	0.697													4	12					0	0	0	0	T	144996950	C	T	144996950	3	4	506	1	0	0	0	0	1	0	0	0	12124	835	29	2	6504	2	PLEC	8	144996950	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	22355442	144996950	1367072	95	97783											
OPLAH	26873	broad.mit.edu	37	chr8	145113144	145113144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccctcggccctcatacctCccatgtcaaagccgatgaca	10	7	7	17	2	2	1	2	1	0	0	4	2	3	1	5	1	3	0	5	1	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:145113144C>T	ENST00000426825.1	-	7	1028	c.947G>A	c.(946-948)gGa>gAa	p.G316E	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	316							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCTCATACCTCCCATGTCAAA	0.692													10	25					0	0	0	0	T	145113144	C	T	145113144	3	4	506	1	0	0	0	0	1	0	0	0	10947	855	30	2	3005	2	OPLAH	8	145113144	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	116194	145113144	1250878	96	97784											
DCAF12	25853	broad.mit.edu	37	chr9	34107381	34107381	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctacacacacaggatccagCgtaggtagtcgatagatggc	12	7	11	11	2	0	1	0	0	0	1	2	3	1	2	2	3	2	2	2	3	4	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:34107381C>A	ENST00000361264.4	-	3	857	c.516G>T	c.(514-516)acG>acT	p.T172T	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	172						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGATCCAGCGTAGGTAGTC	0.493													27	112					2.4375e-19	2.68125e-19	1	0	A	34107381	C	A	34107381	2	1	506	1	0	0	0	0	0	0	0	1	4296	755	27	3		3	DCAF12	9	34107381	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		34107381	107106050	97	97785											
IL11RA	3590	broad.mit.edu	37	chr9	34660381	34660381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccctccaaccacaccctCggctacttggtgagcttggg	6	9	9	17	1	0	1	0	1	0	0	3	1	2	1	5	3	3	2	5	3	2	3	rs148186329	by1000genomes	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:34660381C>T	ENST00000555003.1	+	10	2419	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	IL11RA_ENST00000602473.1_Missense_Mutation_p.R355W|IL11RA_ENST00000441545.2_Missense_Mutation_p.R355W|IL11RA_ENST00000378817.4_Missense_Mutation_p.R355W|IL11RA_ENST00000318041.9_Missense_Mutation_p.R355W			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	355						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	ACCACACCCTCGGCTACTTGG	0.587													15	22					0	0	0	0	T	34660381	C	T	34660381	3	4	506	1	0	0	0	0	1	0	0	0	7676	875	31	1	1097	1	IL11RA	9	34660381	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	553000	34660381	106553050	98	97786											
C9orf131	138724	broad.mit.edu	37	chr9	35043206	35043207	+	Frame_Shift_Del	DEL	CA	CA	-																															gccagcagcagagaaaaagcCagctcttctggggtctcccc																										TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:35043206_35043207delCA	ENST00000312292.5	+	2	627_628	c.580_581delCA	c.(580-582)gfs	p.Q194fs	C9orf131_ENST00000354479.5_Frame_Shift_Del_p.Q121fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.Q146fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	194										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAGAAAAAGCCAGCTCTTCTGG	0.559													21	133	---	---	---	---					-	35043207	CA	-	35043206	7	5	506	1	0	1	0	1	0	0	0	0	2482	595	21	0	602	0	C9orf131	9	35043206	Frame_Shift_Del	DEL	CA	TCGA-UF-A7JT-01A-11D-A34J-08	382825	35043206	106170225	99	97787											
TPM2	7169	broad.mit.edu	37	chr9	35689169	35689169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccttcttctcggcctgctCcagtttctcctgggcctcct	1	14	9	17	1	3	0	0	0	3	0	7	0	5	0	6	3	1	2	6	3	0	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:35689169C>G	ENST00000378292.3	-	2	1416	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	TPM2_ENST00000360958.2_Missense_Mutation_p.E72Q|TPM2_ENST00000378300.5_Missense_Mutation_p.E72Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E72Q	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	72					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGGCCTGCTCCAGTTTCTCC	0.582													50	165					0	0	0	0	G	35689169	C	G	35689169	3	3	506	1	0	0	0	0	1	0	0	0	16501	864	30	2	839	2	TPM2	9	35689169	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	645963	35689169	105524262	100	97788											
ZNF484	83744	broad.mit.edu	37	chr9	95609862	95609862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgtatggattttctGatgcatacttagtgttgatt	7	20	8	6	0	2	2	0	2	2	0	3	3	2	3	1	1	2	3	1	1	3	8			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:95609862G>T	ENST00000395505.2	-	3	1191	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZNF484_ENST00000395506.3_Missense_Mutation_p.Q405K|ZNF484_ENST00000332591.6_Missense_Mutation_p.Q367K|ZNF484_ENST00000375495.3_Missense_Mutation_p.Q403K|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGGATTTTCTGATGCATACTT	0.343													15	85					0.000566183	0.000568336	1	0	T	95609862	G	T	95609862	3	4	506	1	0	0	0	0	1	0	0	0	18032	1299	45	2	1355	2	ZNF484	9	95609862	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	59920693	95609862	45603569	101	97789											
OR13F1	138805	broad.mit.edu	37	chr9	107267046	107267046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgctgccactgtctcTctgtggtaatagcatcatca	7	14	9	11	0	5	0	2	0	3	0	6	0	5	0	1	1	3	3	1	1	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:107267046T>A	ENST00000334726.2	+	1	592	c.503T>A	c.(502-504)cTc>cAc	p.L168H		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCACTGTCTCTCTGTGGTAAT	0.473													39	131					0	0	0	0	A	107267046	T	A	107267046	3	1	506	1	0	0	0	0	1	0	0	0	11012	1551	54	5	505	5	OR13F1	9	107267046	Missense_Mutation	SNP	T	TCGA-UF-A7JT-01A-11D-A34J-08	11657184	107267046	33946385	102	97790											
FKTN	2218	broad.mit.edu	37	chr9	108377582	108377582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccttgatgataacactgtGgaagctgtggcctttcggaa	10	12	11	8	1	0	2	0	2	0	0	1	4	0	4	2	3	3	1	2	3	4	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:108377582G>A	ENST00000223528.2	+	7	928	c.804G>A	c.(802-804)gtG>gtA	p.V268V	FKTN_ENST00000448551.2_Silent_p.V268V|FKTN_ENST00000602661.1_Silent_p.V268V|FKTN_ENST00000357998.5_Silent_p.V268V|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	268					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						ATAACACTGTGGAAGCTGTGG	0.398													18	106					0	0	0	0	A	108377582	G	A	108377582	2	1	506	1	0	0	0	0	0	0	0	1	5964	1335	47	4		4	FKTN	9	108377582	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1110536	108377582	32835849	103	97791											
IKBKAP	8518	broad.mit.edu	37	chr9	111665870	111665870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacttaaatatctggccatCagccagctgtaatactactg	12	12	7	10	0	2	0	1	0	1	0	2	0	2	0	2	1	5	3	2	1	7	6			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:111665870C>T	ENST00000374647.5	-	15	2030	c.1723G>A	c.(1723-1725)Gat>Aat	p.D575N	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D226N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	575					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATCTGGCCATCAGCCAGCTGT	0.403													41	144					0	0	0	0	T	111665870	C	T	111665870	3	4	506	1	0	0	0	0	1	0	0	0	7663	826	29	2	2367	2	IKBKAP	9	111665870	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	3288288	111665870	29547561	104	97792											
ZNF483	158399	broad.mit.edu	37	chr9	114296088	114296088	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagaagctggagccttttCaaaaggagctatataaggaa	16	8	12	5	0	1	1	1	0	0	1	1	5	1	5	1	4	3	2	1	4	8	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:114296088C>T	ENST00000309235.5	+	4	729	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	ZNF483_ENST00000355824.3_Nonsense_Mutation_p.Q191*|ZNF483_ENST00000358151.4_Nonsense_Mutation_p.Q191*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	191	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGAGCCTTTTCAAAAGGAGCT	0.403													26	117					0	0	0	0	T	114296088	C	T	114296088	4	4	506	1	0	0	0	0	0	1	0	0	18031	827	29	2	581	2	ZNF483	9	114296088	Nonsense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	2630218	114296088	26917343	105	97793											
FAM129B	64855	broad.mit.edu	37	chr9	130270795	130270795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaggagggtctcgaacGtatacacggcattgtccatt	9	10	13	9	3	1	0	0	0	1	0	3	2	2	1	1	4	3	3	1	4	3	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:130270795G>A	ENST00000373312.3	-	11	1553	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.T434M	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	447							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGTCTCGAACGTATACACGGC	0.637													36	144					0	0	0	0	A	130270795	G	A	130270795	3	1	506	1	0	0	0	0	1	0	0	0	5478	1145	40	1	916	1	FAM129B	9	130270795	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	15974707	130270795	10942636	106	97794											
CERCAM	51148	broad.mit.edu	37	chr9	131190588	131190588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctctgcaggggtctcCgtccacgtgtgcaatgagca	6	10	12	13	2	2	1	0	1	2	0	5	1	3	1	3	2	3	3	3	2	1	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131190588C>T	ENST00000372842.1	+	7	3684	c.540C>T	c.(538-540)tcC>tcT	p.S180S	CERCAM_ENST00000372838.4_Silent_p.S258S			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	258					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CAGGGGTCTCCGTCCACGTGT	0.582													8	47					0	0	0	0	T	131190588	C	T	131190588	2	4	506	1	0	0	0	0	0	0	0	1	3295	639	23	1		1	CERCAM	9	131190588	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	919793	131190588	10022843	107	97795											
SPTAN1	6709	broad.mit.edu	37	chr9	131339216	131339216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagctctttggggcagcaGaagttcagcgctttaacagg	10	9	14	8	1	2	1	1	0	1	1	2	2	2	2	0	4	4	5	0	4	3	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131339216G>A	ENST00000358161.5	+	6	879	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E256K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E256K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	256					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGGGCAGCAGAAGTTCAGCG	0.572													12	68					0	0	0	0	A	131339216	G	A	131339216	3	1	506	1	0	0	0	0	1	0	0	0	15207	943	33	2	784	2	SPTAN1	9	131339216	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	148628	131339216	9874215	108	97796											
SPTAN1	6709	broad.mit.edu	37	chr9	131388253	131388253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggctcagagtcacttccGcaaggtgaggatggggccac	9	6	16	10	1	2	2	2	1	0	1	3	4	3	4	2	6	0	2	2	6	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131388253G>T	ENST00000358161.5	+	48	6388	c.6275G>T	c.(6274-6276)cGc>cTc	p.R2092L	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2092L|SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2087L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2087					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGTCACTTCCGCAAGGTGAGG	0.622													23	53					5.45024e-15	5.97039e-15	1	0	T	131388253	G	T	131388253	3	4	506	1	0	0	0	0	1	0	0	0	15207	1087	38	3	6461	3	SPTAN1	9	131388253	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	49037	131388253	9825178	109	97797											
INPP5E	56623	broad.mit.edu	37	chr9	139326414	139326414	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccaaaccagaacacctCatcgaagcgggtggtgacgt	11	7	11	12	3	2	2	1	1	1	1	4	3	2	2	3	2	3	0	3	2	3	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:139326414C>A	ENST00000371712.3	-	7	1813	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	471						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CAGAACACCTCATCGAAGCGG	0.667													7	66					2.17888e-05	2.23822e-05	1	0	A	139326414	C	A	139326414	4	1	506	1	0	0	0	0	0	1	0	0	7810	835	29	2	539	2	INPP5E	9	139326414	Nonsense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	7938161	139326414	1887017	110	97798											
PTCHD3	374308	broad.mit.edu	37	chr10	27702334	27702334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaggcggggaaggagatGctgctcaggttgagcgtttt	7	12	17	5	2	1	2	1	1	0	1	1	4	1	3	0	5	3	5	0	5	2	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:27702334G>A	ENST00000438700.3	-	1	963	c.846C>T	c.(844-846)agC>agT	p.S282S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	282					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGAAGGAGATGCTGCTCAGGT	0.617													13	52					0	0	0	0	A	27702334	G	A	27702334	2	1	506	1	0	0	0	0	0	0	0	1	12813	1310	46	4		4	PTCHD3	10	27702334	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		27702334	107832413	111	97799											
KIAA1462	57608	broad.mit.edu	37	chr10	30317632	30317632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctctcatcccccgacgggGgtattaagctctgtggattc	6	12	10	13	2	3	0	1	0	2	0	6	2	4	1	2	3	1	2	2	3	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:30317632G>T	ENST00000375377.1	-	3	1546	c.1445C>A	c.(1444-1446)cCc>cAc	p.P482H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	482										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCCGACGGGGGTATTAAGCT	0.597													26	89					4.87955e-14	5.32315e-14	1	0	T	30317632	G	T	30317632	3	4	506	1	0	0	0	0	1	0	0	0	8285	1232	43	4	2642	4	KIAA1462	10	30317632	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2615298	30317632	105217115	112	97800											
BMS1	9790	broad.mit.edu	37	chr10	43318668	43318668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagcactccgagctccaGaaggagctttcagggccagc	12	5	12	12	1	1	2	1	0	0	2	3	4	3	3	3	2	4	3	3	2	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:43318668G>A	ENST00000374518.4	+	20	3298	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1079					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCGAGCTCCAGAAGGAGCTTT	0.488													22	65					0	0	0	0	A	43318668	G	A	43318668	3	1	506	1	0	0	0	0	1	0	0	0	1477	943	33	2	3309	2	BMS1	10	43318668	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	13001036	43318668	92216079	113	97801											
ZMIZ1	57178	broad.mit.edu	37	chr10	81051996	81051996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgacttcactcagcccgcGgcagccgctgcagcagcggc	6	5	13	17	4	2	1	2	1	0	0	2	1	2	1	2	2	5	5	2	2	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:81051996G>A	ENST00000334512.5	+	11	1412	c.840G>A	c.(838-840)gcG>gcA	p.A280A	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	280	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCAGCCCgcggcagccgctg	0.672													31	91					0	0	0	0	A	81051996	G	A	81051996	2	1	506	1	0	0	0	0	0	0	0	1	17791	1103	39	1		1	ZMIZ1	10	81051996	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	37733328	81051996	54482751	114	97802											
ACTA2	59	broad.mit.edu	37	chr10	90708681	90708681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagtgctgtcctcttcttCacacatagctggagctgctt	6	13	10	12	0	3	0	1	0	2	0	4	1	4	1	1	2	4	5	1	2	1	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:90708681C>T	ENST00000458208.1	-	2	481	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.E3K|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	3					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCCTCTTCTTCACACATAGCT	0.532													15	61					0	0	0	0	T	90708681	C	T	90708681	3	4	506	1	0	0	0	0	1	0	0	0	192	835	29	2	1158	2	ACTA2	10	90708681	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	9656685	90708681	44826066	115	97803											
SLIT1	6585	broad.mit.edu	37	chr10	98808760	98808760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgatgcgcttgttggCgaggcgccggggactggcac	4	7	17	13	5	0	0	0	0	0	0	0	3	0	1	2	5	2	3	2	5	0	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:98808760C>T	ENST00000266058.4	-	14	1662	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A473T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	473	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCTTGTTGGCGAGGCGCCGG	0.632													29	86					0	0	0	0	T	98808760	C	T	98808760	3	4	506	1	0	0	0	0	1	0	0	0	14827	768	27	1	3283	1	SLIT1	10	98808760	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	8100079	98808760	36725987	116	97804											
MRPL43	84545	broad.mit.edu	37	chr10	102746724	102746724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgctctcctcgcgcacagCcccgttaactggcagaagag	9	7	11	14	3	1	2	0	0	1	2	3	3	1	2	3	1	3	4	3	1	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:102746724C>T	ENST00000318325.2	-	3	300	c.247G>A	c.(247-249)Gct>Act	p.A83T	MRPL43_ENST00000299179.5_Missense_Mutation_p.A83T|MRPL43_ENST00000318364.8_Missense_Mutation_p.A83T|MRPL43_ENST00000370241.3_Missense_Mutation_p.A83T|MRPL43_ENST00000370234.4_Missense_Mutation_p.A83T|MRPL43_ENST00000342071.1_Missense_Mutation_p.A83T|MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000370236.1_Missense_Mutation_p.A83T|MRPL43_ENST00000370242.4_Missense_Mutation_p.A83T|MRPL43_ENST00000493646.1_5'UTR	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	83					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TCGCGCACAGCCCCGTTAACT	0.647													3	30					0	0	0	0	T	102746724	C	T	102746724	3	4	506	1	0	0	0	0	1	0	0	0	9877	739	26	4	643	4	MRPL43	10	102746724	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	3937964	102746724	32788023	117	97805											
HPS5	11234	broad.mit.edu	37	chr11	18320456	18320456	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatcagggagagatgtgaGactttcccatttaggtgcaa	12	11	12	6	0	1	2	1	1	0	2	2	6	2	3	1	2	1	1	1	2	3	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:18320456G>C	ENST00000396253.3	-	9	1167	c.705C>G	c.(703-705)gtC>gtG	p.V235V	HPS5_ENST00000531848.1_Silent_p.V235V|HPS5_ENST00000349215.3_Silent_p.V349V|HPS5_ENST00000438420.2_Silent_p.V235V	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	349						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAGATGTGAGACTTTCCCAT	0.443									Hermansky-Pudlak syndrome				14	109					0	0	0	0	C	18320456	G	C	18320456	2	2	506	1	0	0	0	0	0	0	0	1	7392	929	33	2		2	HPS5	11	18320456	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		18320456	116686060	118	97806											
KBTBD4	55709	broad.mit.edu	37	chr11	47595145	47595145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcattgttgcacttccaCatgcgccgtgggatggaccc	6	10	13	12	2	0	0	0	0	0	0	1	2	1	2	3	3	2	3	3	3	0	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:47595145C>T	ENST00000533290.1	-	3	1683	c.969G>A	c.(967-969)atG>atA	p.M323I	KBTBD4_ENST00000430070.2_Missense_Mutation_p.M314I|KBTBD4_ENST00000526005.1_Missense_Mutation_p.M298I|KBTBD4_ENST00000395288.2_Missense_Mutation_p.M298I|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	298										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGCACTTCCACATGCGCCGTG	0.587													9	78					0	0	0	0	T	47595145	C	T	47595145	3	4	506	1	0	0	0	0	1	0	0	0	8048	478	17	4	666	4	KBTBD4	11	47595145	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	29274689	47595145	87411371	119	97807											
AHNAK	79026	broad.mit.edu	37	chr11	62297854	62297854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaccttctacctcaggCaaggacacatccacatctcc	11	10	4	16	0	4	0	2	0	2	0	6	1	5	1	4	2	1	1	4	2	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:62297854C>G	ENST00000378024.4	-	5	4309	c.4035G>C	c.(4033-4035)ttG>ttC	p.L1345F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1345					nervous system development	nucleus	protein binding			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)				CTACCTCAGGCAAGGACACAT	0.488													29	307					0	0	0	0	G	62297854	C	G	62297854	3	3	506	1	0	0	0	0	1	0	0	0	414	709	25	4	13757	4	AHNAK	11	62297854	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	14702709	62297854	72708662	120	97808											
SLC22A20	440044	broad.mit.edu	37	chr11	65004163	65004163	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacctcccacaggcagatgGggatgggctttgcctctgtc	7	9	12	13	0	1	1	0	0	1	1	3	2	2	2	3	4	1	2	3	4	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:65004163G>A	ENST00000525437.1	+	0	1413							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CAGGCAGATGGGGATGGGCTT	0.657													15	61					0	0	0	0	A	65004163	G	A	65004163	1	1	506	0	1	0	0	0	0	0	0	0	14540	1247	43	4		4	SLC22A20	11	65004163	RNA	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2706309	65004163	70002353	121	97809											
SNX32	254122	broad.mit.edu	37	chr11	65617969	65617969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagcgcctggcggccCaccccaccctgcgtcgagac	5	6	11	19	4	1	1	0	0	1	1	2	2	1	1	5	2	3	1	5	2	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:65617969C>T	ENST00000308342.6	+	5	867	c.442C>T	c.(442-444)Cac>Tac	p.H148Y		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	148	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGGCGGCCCACCCCACCCT	0.592													9	20					0	0	0	0	T	65617969	C	T	65617969	3	4	506	1	0	0	0	0	1	0	0	0	14990	594	21	4	460	4	SNX32	11	65617969	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	613806	65617969	69388547	122	97810											
LRTOMT	220074	broad.mit.edu	37	chr11	71804685	71804685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtggcttcacagctgttgGagcacccagagaacctggcc	9	7	13	12	0	1	1	1	0	0	1	1	3	1	2	3	4	3	4	3	4	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:71804685G>A	ENST00000324866.7	+	4	392	c.226G>A	c.(226-228)Gag>Aag	p.E76K	LRTOMT_ENST00000423494.2_Missense_Mutation_p.E58K|LRTOMT_ENST00000289488.2_Missense_Mutation_p.E76K|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000539587.1_Intron|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E76K	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	76						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						ACAGCTGTTGGAGCACCCAGA	0.512													18	82					0	0	0	0	A	71804685	G	A	71804685	3	1	506	1	0	0	0	0	1	0	0	0	9110	1175	41	2	232	2	LRTOMT	11	71804685	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	6186716	71804685	63201831	123	97811											
C11orf30	56946	broad.mit.edu	37	chr11	76234275	76234275	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacaaaagactacaggaaaAggaacgaccattcaaggcct	18	5	9	9	1	1	1	1	0	0	1	1	4	1	3	2	3	3	1	2	3	8	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:76234275A>G	ENST00000529032.1	+	11	1761	c.1761A>G	c.(1759-1761)aaA>aaG	p.K587K	C11orf30_ENST00000524767.1_Silent_p.K602K|C11orf30_ENST00000334736.3_Silent_p.K587K|C11orf30_ENST00000525038.1_Silent_p.K602K|C11orf30_ENST00000533248.1_Silent_p.K601K|C11orf30_ENST00000343878.3_Silent_p.K587K|C11orf30_ENST00000524490.1_Silent_p.K503K|C11orf30_ENST00000525919.1_Silent_p.K588K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	587	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTACAGGAAAAGGAACGACCA	0.438													4	122					0	0	0	0	G	76234275	A	G	76234275	2	3	506	1	0	0	0	0	0	0	0	1	1647	69	3	5		5	C11orf30	11	76234275	Silent	SNP	A	TCGA-UF-A7JT-01A-11D-A34J-08	4429590	76234275	58772241	124	97812											
C11orf30	56946	broad.mit.edu	37	chr11	76255846	76255846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcgctcccagcttcttcaGagaaacagacggcaagccag	11	7	10	13	2	2	2	1	0	1	2	4	3	3	2	2	1	3	3	2	1	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:76255846G>A	ENST00000529032.1	+	18	3253	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K	C11orf30_ENST00000524767.1_Missense_Mutation_p.E1100K|C11orf30_ENST00000334736.3_Missense_Mutation_p.E1085K|C11orf30_ENST00000525038.1_Missense_Mutation_p.E1086K|C11orf30_ENST00000533248.1_Missense_Mutation_p.E994K|C11orf30_ENST00000343878.3_Missense_Mutation_p.E1085K|C11orf30_ENST00000524490.1_Missense_Mutation_p.E987K|C11orf30_ENST00000525919.1_Missense_Mutation_p.E1086K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1085	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGCTTCTTCAGAGAAACAGAC	0.483													7	65					0	0	0	0	A	76255846	G	A	76255846	3	1	506	1	0	0	0	0	1	0	0	0	1647	943	33	2	3323	2	C11orf30	11	76255846	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	21571	76255846	58750670	125	97813											
KIAA1377	57562	broad.mit.edu	37	chr11	101829016	101829016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacatgagggcaaccttGgctactagcaaaaatgtgtt	15	9	10	7	0	0	1	0	1	0	0	0	2	0	1	1	2	4	4	1	2	7	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:101829016G>T	ENST00000263468.8	+	5	894	c.624G>T	c.(622-624)ttG>ttT	p.L208F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.L9F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	208							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GGGCAACCTTGGCTACTAGCA	0.358													35	179					2.38352e-08	2.49702e-08	1	0	T	101829016	G	T	101829016	3	4	506	1	0	0	0	0	1	0	0	0	8278	1339	47	4	642	4	KIAA1377	11	101829016	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	25573170	101829016	33177500	126	97814											
C11orf87	399947	broad.mit.edu	37	chr11	109294765	109294765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctggagaggcagcccCgggactctcccttctgcgcc	4	6	13	18	3	2	1	0	0	2	1	3	3	2	2	5	4	2	2	5	4	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:109294765C>T	ENST00000327419.6	+	2	809	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	136						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGGCAGCCCCGGGACTCTCC	0.726													17	77					0	0	0	0	T	109294765	C	T	109294765	3	4	506	1	0	0	0	0	1	0	0	0	1680	643	23	1	408	1	C11orf87	11	109294765	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	7465749	109294765	25711751	127	97815											
IL10RA	3587	broad.mit.edu	37	chr11	117859132	117859132	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctccgtctgtgtggtttGaagcagaatttttccaccac	7	13	9	12	1	1	2	0	1	1	1	3	2	3	2	4	1	1	2	4	1	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:117859132G>C	ENST00000227752.3	+	2	223	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	IL10RA_ENST00000541785.1_Missense_Mutation_p.E15Q|IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	35						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGTGGTTTGAAGCAGAATT	0.542													19	83					0	0	0	0	C	117859132	G	C	117859132	3	2	506	1	0	0	0	0	1	0	0	0	7673	1291	45	2	109	2	IL10RA	11	117859132	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	8564367	117859132	17147384	128	97816											
FEZ1	9638	broad.mit.edu	37	chr11	125359605	125359605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacactggggcttctcctcCgggtcctccgagcaggaggg	7	7	14	13	2	1	0	0	0	1	0	5	2	4	1	4	5	2	2	4	5	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:125359605C>T	ENST00000278919.3	-	2	303	c.69G>A	c.(67-69)ccG>ccA	p.P23P	FEZ1_ENST00000524435.1_Silent_p.P23P|FEZ1_ENST00000366139.3_Silent_p.P23P	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	23					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCTTCTCCTCCGGGTCCTCCG	0.537													25	85					0	0	0	0	T	125359605	C	T	125359605	2	4	506	1	0	0	0	0	0	0	0	1	5868	639	23	1		1	FEZ1	11	125359605	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	7500473	125359605	9646911	129	97817											
NINJ2	4815	broad.mit.edu	37	chr12	674476	674476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggctgtaatgaaaacattGatgaccacagtgaagaagac	18	7	10	6	0	0	6	0	4	0	2	0	6	0	6	1	1	1	2	1	1	6	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:674476G>C	ENST00000305108.4	-	3	772	c.492C>G	c.(490-492)atC>atG	p.I164M	NINJ2_ENST00000542920.1_Missense_Mutation_p.I82M|NINJ2_ENST00000397265.3_Missense_Mutation_p.I111M	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	118					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TGAAAACATTGATGACCACAG	0.542													10	48					0	0	0	0	C	674476	G	C	674476	3	2	506	1	0	0	0	0	1	0	0	0	10489	1280	45	2	78	2	NINJ2	12	674476	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		674476	133177419	130	97818											
PLBD1	79887	broad.mit.edu	37	chr12	14695211	14695211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtagaggtttgtgtagTggtcattcatgtgtctgaaa	8	15	15	3	0	3	2	2	1	1	1	3	2	3	2	0	3	0	3	0	3	3	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:14695211T>G	ENST00000240617.5	-	3	1002	c.350A>C	c.(349-351)cAc>cCc	p.H117P		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	117					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GTTTGTGTAGTGGTCATTCAT	0.333													17	83					0	0	0	0	G	14695211	T	G	14695211	3	3	506	1	0	0	0	0	1	0	0	0	12097	1696	59	5	1347	5	PLBD1	12	14695211	Missense_Mutation	SNP	T	TCGA-UF-A7JT-01A-11D-A34J-08	14020735	14695211	119156684	131	97819											
SLCO1B1	10599	broad.mit.edu	37	chr12	21377690	21377690	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatatattttggggctctGattgatacaacgtgtataaa	13	14	8	6	1	1	2	0	2	1	0	1	2	1	2	1	2	2	2	1	2	8	8			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:21377690G>C	ENST00000256958.2	+	14	1878	c.1782G>C	c.(1780-1782)ctG>ctC	p.L594L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	594					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGGGGCTCTGATTGATACAA	0.373													14	155					0	0	0	0	C	21377690	G	C	21377690	2	2	506	1	0	0	0	0	0	0	0	1	14811	1277	45	2		2	SLCO1B1	12	21377690	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	6682479	21377690	112474205	132	97820											
ADAMTS20	80070	broad.mit.edu	37	chr12	43823483	43823483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacagttggtaataaagcGgtctcaagtttagaaataaa	18	10	9	4	1	1	2	1	0	1	2	2	2	1	2	0	2	2	3	0	2	9	6			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:43823483G>A	ENST00000389420.3	-	24	3425	c.3426C>T	c.(3424-3426)acC>acT	p.T1142T	ADAMTS20_ENST00000553158.1_Silent_p.T1142T|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1142						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAATAAAGCGGTCTCAAGTT	0.338													6	11					0	0	0	0	A	43823483	G	A	43823483	2	1	506	1	0	0	0	0	0	0	0	1	266	1103	39	1		1	ADAMTS20	12	43823483	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	22445793	43823483	90028412	133	97821											
TROAP	10024	broad.mit.edu	37	chr12	49725031	49725031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccctcgaaccctagccctGagggagcgcctcaaatcgtg	8	6	11	16	3	1	1	1	1	0	0	3	3	1	2	5	1	3	0	5	1	3	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:49725031G>A	ENST00000551245.1	+	13	2514	c.2403G>A	c.(2401-2403)ctG>ctA	p.L801L	TROAP_ENST00000547923.1_Silent_p.L390L|TROAP_ENST00000257909.3_Silent_p.L711L			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm		p.L711L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCTAGCCCTGAGGGAGCGCC	0.577													15	46					0	0	0	0	A	49725031	G	A	49725031	2	1	506	1	0	0	0	0	0	0	0	1	16670	1277	45	2		2	TROAP	12	49725031	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	5901548	49725031	84126864	134	97822											
LARP4	113251	broad.mit.edu	37	chr12	50829270	50829270	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggactattttgttttttcaGagaaaatttgtcaaaggatc	13	16	8	4	0	2	1	2	0	0	1	3	4	2	3	0	2	0	1	0	2	4	7			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:50829270G>C	ENST00000398473.2	+	5	510		c.e5-1		LARP4_ENST00000429001.3_Splice_Site|LARP4_ENST00000347328.5_Splice_Site|LARP4_ENST00000293618.8_Splice_Site|LARP4_ENST00000522085.1_Splice_Site|LARP4_ENST00000518444.1_Splice_Site|LARP4_ENST00000518561.1_Splice_Site	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4								nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGTTTTTTCAGAGAAAATTTG	0.299													10	28					0	0	0	0	C	50829270	G	C	50829270	5	2	506	1	0	0	0	0	0	0	1	0	8683	956	33	2	416	2	LARP4	12	50829270	Splice_Site	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1104239	50829270	83022625	135	97823											
KRT3	3850	broad.mit.edu	37	chr12	53187000	53187000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtacgtttattgatttcatCctcatatctgtgtgaataaa	11	18	6	6	1	3	2	2	2	1	0	4	2	4	2	1	0	1	2	1	0	6	7			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:53187000C>T	ENST00000417996.2	-	3	948	c.874G>A	c.(874-876)Gat>Aat	p.D292N	KRT3_ENST00000309505.3_Missense_Mutation_p.D292N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	292	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGATTTCATCCTCATATCTG	0.423													3	16					0	0	0	0	T	53187000	C	T	53187000	3	4	506	1	0	0	0	0	1	0	0	0	8518	855	30	2	1040	2	KRT3	12	53187000	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	2357730	53187000	80664895	136	97824											
SP1	6667	broad.mit.edu	37	chr12	53800378	53800378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttaatttcaggtgatcatgGagctcagcttggtctccatg	8	14	10	9	0	4	1	3	1	1	0	5	2	4	2	1	3	2	2	1	3	1	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:53800378G>C	ENST00000426431.2	+	4	1724	c.1664G>C	c.(1663-1665)gGa>gCa	p.G555A	SP1_ENST00000327443.4_Missense_Mutation_p.G562A	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	562	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGTGATCATGGAGCTCAGCTT	0.493													8	62					0	0	0	0	C	53800378	G	C	53800378	3	2	506	1	0	0	0	0	1	0	0	0	15047	1174	41	2	1699	2	SP1	12	53800378	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	613378	53800378	80051517	137	97825											
DNAJC14	85406	broad.mit.edu	37	chr12	56221509	56221509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctactccacagtaaaaccCctggcttagaaactgaaaca	15	8	5	13	0	0	2	0	1	0	1	2	2	2	2	4	1	4	2	4	1	6	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56221509C>T	ENST00000357606.3	-	3	1223	c.934G>A	c.(934-936)Ggg>Agg	p.G312R	DNAJC14_ENST00000317269.3_Missense_Mutation_p.G312R|DNAJC14_ENST00000317287.5_Missense_Mutation_p.G312R			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	312					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAGTAAAACCCCTGGCTTAGA	0.512													24	47					0	0	0	0	T	56221509	C	T	56221509	3	4	506	1	0	0	0	0	1	0	0	0	4669	623	22	4	1198	4	DNAJC14	12	56221509	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	2421131	56221509	77630386	138	97826											
DGKA	1606	broad.mit.edu	37	chr12	56346614	56346614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctccaacctctggggtGataccaggagaccccatggg	8	7	14	12	0	1	2	0	1	1	1	2	3	2	2	5	5	2	1	5	5	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56346614G>A	ENST00000331886.5	+	21	2294	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.D614N|DGKA_ENST00000551156.1_Missense_Mutation_p.D614N	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	614					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCTCTGGGGTGATACCAGGAG	0.527													15	164					0	0	0	0	A	56346614	G	A	56346614	3	1	506	1	0	0	0	0	1	0	0	0	4502	1290	45	2	1918	2	DGKA	12	56346614	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	125105	56346614	77505281	139	97827											
PAN2	9924	broad.mit.edu	37	chr12	56726847	56726847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggctggggcatattctGccagtccagggtccagaccc	7	8	13	13	0	1	1	0	0	1	1	3	1	3	1	4	4	1	3	4	4	1	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56726847G>A	ENST00000425394.2	-	2	408	c.32C>T	c.(31-33)gCa>gTa	p.A11V	PAN2_ENST00000548043.1_Missense_Mutation_p.A11V|PAN2_ENST00000440411.3_Missense_Mutation_p.A11V|PAN2_ENST00000257931.5_Missense_Mutation_p.A11V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	11					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			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						GGCATATTCTGCCAGTCCAGG	0.557													14	36					0	0	0	0	A	56726847	G	A	56726847	3	1	506	1	0	0	0	0	1	0	0	0	11485	1319	46	4	3676	4	PAN2	12	56726847	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	380233	56726847	77125048	140	97828											
BAZ2A	11176	broad.mit.edu	37	chr12	56994065	56994065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacctcatgagttggccaGaggggctcccgcaggtaccg	9	6	13	13	2	1	2	1	1	0	1	2	2	2	2	4	4	2	4	4	4	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56994065G>A	ENST00000179765.5	-	25	4921	c.4722C>T	c.(4720-4722)ctC>ctT	p.L1574L	BAZ2A_ENST00000551812.1_Silent_p.L1606L|BAZ2A_ENST00000549884.1_Silent_p.L1604L|BAZ2A_ENST00000379441.3_Silent_p.L1576L			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1606					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GAGTTGGCCAGAGGGGCTCCC	0.592													5	37					0	0	0	0	A	56994065	G	A	56994065	2	1	506	1	0	0	0	0	0	0	0	1	1335	929	33	2		2	BAZ2A	12	56994065	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	267218	56994065	76857830	141	97829											
GRIP1	23426	broad.mit.edu	37	chr12	66935696	66935696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtagtgccttccttcttCatcagctcgacgactgtgga	7	12	11	11	2	3	0	2	0	1	0	5	3	4	1	2	2	2	2	2	2	1	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:66935696C>T	ENST00000359742.4	-	3	411	c.171G>A	c.(169-171)atG>atA	p.M57I	GRIP1_ENST00000398016.3_Missense_Mutation_p.M57I|GRIP1_ENST00000286445.7_Missense_Mutation_p.M57I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	57	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTCCTTCTTCATCAGCTCGA	0.458													33	150					0	0	0	0	T	66935696	C	T	66935696	3	4	506	1	0	0	0	0	1	0	0	0	6837	826	29	2	3147	2	GRIP1	12	66935696	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	9941631	66935696	66916199	142	97830											
TRHDE	29953	broad.mit.edu	37	chr12	72956692	72956692	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaatggatcagtggacactCcagatgggttatcctgttat	10	13	11	7	0	1	1	1	0	0	1	3	3	3	3	2	3	0	3	2	3	3	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:72956692C>A	ENST00000261180.4	+	9	1875	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	593					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGTGGACACTCCAGATGGGTT	0.313													57	193					2.73361e-28	3.03224e-28	1	0	A	72956692	C	A	72956692	2	1	506	1	0	0	0	0	0	0	0	1	16574	842	30	2		2	TRHDE	12	72956692	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	6020996	72956692	60895203	143	97831											
FAM71C	196472	broad.mit.edu	37	chr12	100042510	100042510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacagtgataccagggctatCctagctgggaacacattgga	12	9	11	9	0	0	1	0	1	0	0	1	3	1	3	2	3	4	2	2	3	5	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:100042510C>T	ENST00000324341.1	+	1	980	c.558C>T	c.(556-558)atC>atT	p.I186I	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	186										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCAGGGCTATCCTAGCTGGGA	0.517													8	30					0	0	0	0	T	100042510	C	T	100042510	2	4	506	1	0	0	0	0	0	0	0	1	5655	845	30	2		2	FAM71C	12	100042510	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	27085818	100042510	33809385	144	97832											
RNFT2	84900	broad.mit.edu	37	chr12	117191824	117191824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggatggccagcaccttcGcctatgccaactccacgctt	7	9	9	16	3	0	0	0	0	0	0	3	1	1	1	5	2	3	2	5	2	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:117191824G>A	ENST00000257575.4	+	5	819	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RNFT2_ENST00000392549.2_Missense_Mutation_p.A196T|RNFT2_ENST00000407967.3_Missense_Mutation_p.A196T|RNFT2_ENST00000319176.7_Missense_Mutation_p.A196T			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	196						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CAGCACCTTCGCCTATGCCAA	0.562													27	79					0	0	0	0	A	117191824	G	A	117191824	3	1	506	1	0	0	0	0	1	0	0	0	13587	1087	38	1	600	1	RNFT2	12	117191824	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	17149314	117191824	16660071	145	97833											
GOLGA3	2802	broad.mit.edu	37	chr12	133384784	133384784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagacggtcgtcagtgtcggGggacaggctgatctcagaca	9	7	15	10	3	2	3	2	1	1	2	5	4	2	4	0	4	0	1	0	4	0	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:133384784G>A	ENST00000204726.3	-	5	1429	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	GOLGA3_ENST00000450791.2_Missense_Mutation_p.P291S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P291S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P291S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P291S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	291					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGTGTCGGGGGACAGGCTG	0.587													29	96					0	0	0	0	A	133384784	G	A	133384784	3	1	506	1	0	0	0	0	1	0	0	0	6605	1232	43	4	3843	4	GOLGA3	12	133384784	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	16192960	133384784	467111	146	97834											
PARP4	143	broad.mit.edu	37	chr13	25009273	25009273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcaaaagacaaggaagcagGactgtgagcgcgggcagtcg	13	3	17	8	3	0	2	0	1	0	1	1	4	0	4	0	4	2	3	0	4	4	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:25009273G>A	ENST00000381989.3	-	31	4111	c.4006C>T	c.(4006-4008)Cct>Tct	p.P1336S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1336					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAGGAAGCAGGACTGTGAGCG	0.502													11	75					0	0	0	0	A	25009273	G	A	25009273	3	1	506	1	0	0	0	0	1	0	0	0	11534	1174	41	2	1184	2	PARP4	13	25009273	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		25009273	90160605	147	97835											
DOCK9	23348	broad.mit.edu	37	chr13	99532804	99532804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactctcctgacataccttCagtagtttgttgctggtgag	7	15	10	9	0	2	3	1	3	1	0	3	3	2	3	2	1	2	4	2	1	2	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:99532804C>T	ENST00000376460.1	-	26	2948	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L	DOCK9_ENST00000339416.2_Silent_p.L957L|DOCK9_ENST00000448493.2_Silent_p.L968L|DOCK9_ENST00000442173.1_Silent_p.L956L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	957					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACATACCTTCAGTAGTTTGT	0.448													12	26					0	0	0	0	T	99532804	C	T	99532804	2	4	506	1	0	0	0	0	0	0	0	1	4730	813	29	2		2	DOCK9	13	99532804	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	74523531	99532804	15637074	148	97836											
DOCK9	23348	broad.mit.edu	37	chr13	99573303	99573303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcaaattataggatccatCgccaagttgaatcaggtgga	14	11	9	7	1	2	1	2	1	0	0	4	3	3	3	2	3	0	1	2	3	5	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:99573303C>T	ENST00000376460.1	-	7	702	c.622G>A	c.(622-624)Gat>Aat	p.D208N	DOCK9_ENST00000339416.2_Missense_Mutation_p.D209N|DOCK9_ENST00000448493.2_Missense_Mutation_p.D220N|DOCK9_ENST00000442173.1_Missense_Mutation_p.D208N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	209	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAGGATCCATCGCCAAGTTGA	0.343													4	11					0	0	0	0	T	99573303	C	T	99573303	3	4	506	1	0	0	0	0	1	0	0	0	4730	884	31	1	5845	1	DOCK9	13	99573303	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	40499	99573303	15596575	149	97837											
MMP14	4323	broad.mit.edu	37	chr14	23311907	23311907	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgccgagccttggactgtCaggaatgaggatctgaatgg	9	10	14	8	1	3	2	1	2	2	0	3	6	3	5	2	4	2	0	2	4	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:23311907C>G	ENST00000311852.6	+	4	930	c.669C>G	c.(667-669)gtC>gtG	p.V223V	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	223						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CTTGGACTGTCAGGAATGAGG	0.557													8	81					0	0	0	0	G	23311907	C	G	23311907	2	3	506	1	0	0	0	0	0	0	0	1	9722	813	29	2		2	MMP14	14	23311907	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		23311907	84037633	150	97838											
LRP10	26020	broad.mit.edu	37	chr14	23346342	23346342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccagatcccaggtcaCaccttctgctgctccccttg	6	10	9	16	0	2	2	1	1	1	1	4	2	4	2	5	2	2	2	5	2	0	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:23346342C>T	ENST00000359591.4	+	7	2439	c.1748C>T	c.(1747-1749)aCa>aTa	p.T583I	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	583					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TCCCAGGTCACACCTTCTGCT	0.692													17	32					0	0	0	0	T	23346342	C	T	23346342	3	4	506	1	0	0	0	0	1	0	0	0	9016	478	17	4	1774	4	LRP10	14	23346342	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	34435	23346342	84003198	151	97839											
AKAP5	9495	broad.mit.edu	37	chr14	64936100	64936100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagagaaatccaaatcaGaagaaagcaaaagaatggag	22	4	10	5	0	1	5	1	1	0	4	2	7	2	6	1	1	1	1	1	1	8	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:64936100G>A	ENST00000320636.5	+	1	2276	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	AKAP5_ENST00000394718.3_Missense_Mutation_p.E330K|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	330					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ATCCAAATCAGAAGAAAGCAA	0.323													24	86					0	0	0	0	A	64936100	G	A	64936100	3	1	506	1	0	0	0	0	1	0	0	0	454	943	33	2	990	2	AKAP5	14	64936100	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	41589758	64936100	42413440	152	97840											
HSPA2	3306	broad.mit.edu	37	chr14	65007732	65007732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcctcatcggcgacgcCgccaagaaccaggtggccat	9	4	13	15	5	1	1	1	0	0	1	2	3	1	1	5	3	2	0	5	3	2	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:65007732C>T	ENST00000247207.6	+	1	547	c.165C>T	c.(163-165)gcC>gcT	p.A55A	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000394709.1_Silent_p.A55A	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TCGGCGACGCCGCCAAGAACC	0.597													13	51					0	0	0	0	T	65007732	C	T	65007732	2	4	506	1	0	0	0	0	0	0	0	1	7463	639	23	1		1	HSPA2	14	65007732	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	71632	65007732	42341808	153	97841											
RAB15	376267	broad.mit.edu	37	chr14	65415117	65415117	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctgggccctcgggtttGccctcctcctcctccagctc	1	12	9	19	2	0	0	0	0	0	0	7	0	4	0	6	2	2	3	6	2	0	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:65415117G>T	ENST00000533601.2	-	7	931	c.594C>A	c.(592-594)ggC>ggA	p.G198G	RAB15_ENST00000267512.5_3'UTR|CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Silent_p.G152G|RAB15_ENST00000436278.2_3'UTR			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	198					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CCTCGGGTTTGCCCTCCTCCT	0.642													8	26					5.18039e-06	5.36323e-06	1	0	T	65415117	G	T	65415117	2	4	506	1	0	0	0	0	0	0	0	1	12983	1334	46	4		4	RAB15	14	65415117	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	407385	65415117	41934423	154	97842											
SLC8A3	6547	broad.mit.edu	37	chr14	70633708	70633708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaccttacaaagaagtgttCatcctcctcaaaaatgtcgt	14	11	5	11	1	2	1	2	0	0	1	5	1	4	1	3	0	2	1	3	0	6	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:70633708C>T	ENST00000381269.2	-	2	2185	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	SLC8A3_ENST00000357887.3_Missense_Mutation_p.E478K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E478K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E478K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E478K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	478	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGAAGTGTTCATCCTCCTCA	0.517													23	167					0	0	0	0	T	70633708	C	T	70633708	3	4	506	1	0	0	0	0	1	0	0	0	14796	835	29	2	1490	2	SLC8A3	14	70633708	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	5218591	70633708	36715832	155	97843											
ZFYVE1	53349	broad.mit.edu	37	chr14	73491106	73491106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagacactgcagactgcaGcactcatcacactcaaagat	14	6	8	13	1	3	3	3	0	0	3	3	4	3	3	0	1	3	3	0	1	1	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:73491106G>C	ENST00000556143.1	-	2	831	c.111C>G	c.(109-111)tgC>tgG	p.C37W	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C37W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C37W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	37						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GCAGACTGCAGCACTCATCAC	0.562													22	71					0	0	0	0	C	73491106	G	C	73491106	3	2	506	1	0	0	0	0	1	0	0	0	17758	963	34	4	2266	4	ZFYVE1	14	73491106	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2857398	73491106	33858434	156	97844											
ADSSL1	122622	broad.mit.edu	37	chr14	105196289	105196289	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggtgggcagaggcccacGaacctggccctgaccctcag	8	4	15	14	1	1	2	1	1	0	1	1	4	1	3	4	5	1	1	4	5	1	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:105196289G>A	ENST00000332972.5	+	1	219	c.60G>A	c.(58-60)acG>acA	p.T20T	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	0					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGAGGCCCACGAACCTGGCCC	0.687													3	7					0	0	0	0	A	105196289	G	A	105196289	2	1	506	1	0	0	0	0	0	0	0	1	348	1045	37	1		1	ADSSL1	14	105196289	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	31705183	105196289	2153251	157	97845											
HERC2	8924	broad.mit.edu	37	chr15	28483355	28483355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccactgggtcttcccctgCaaactgagctgaaacaaaaa	14	8	7	12	0	1	2	0	2	1	0	2	2	2	2	3	1	5	2	3	1	5	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:28483355C>A	ENST00000261609.7	-	25	3865	c.3757G>T	c.(3757-3759)Gca>Tca	p.A1253S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1253	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTTCCCCTGCAAACTGAGCT	0.458													14	49					2.31682e-05	2.3707e-05	1	0	A	28483355	C	A	28483355	3	1	506	1	0	0	0	0	1	0	0	0	7108	710	25	4	11023	4	HERC2	15	28483355	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		28483355	74048037	158	97846											
MGA	23269	broad.mit.edu	37	chr15	42003184	42003184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaacagacaggcaactttCagtggccgaactaaatcatc	16	7	7	11	1	2	1	2	0	0	1	3	2	2	1	1	2	3	1	1	2	6	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:42003184C>T	ENST00000219905.7	+	8	2902	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F	MGA_ENST00000389936.4_Silent_p.F907F|MGA_ENST00000566586.1_Silent_p.F907F|MGA_ENST00000545763.1_Silent_p.F907F|MGA_ENST00000570161.1_Silent_p.F907F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	907						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			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)		AGGCAACTTTCAGTGGCCGAA	0.398													22	152					0	0	0	0	T	42003184	C	T	42003184	2	4	506	1	0	0	0	0	0	0	0	1	9609	825	29	2		2	MGA	15	42003184	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	13519829	42003184	60528208	159	97847											
TTBK2	146057	broad.mit.edu	37	chr15	43045107	43045107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactctaaaaggatgcttttCtcttcagtttccccagggag	9	13	9	10	0	3	0	1	0	2	0	5	3	4	2	2	2	1	2	2	2	2	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:43045107C>G	ENST00000267890.6	-	14	2445	c.2337G>C	c.(2335-2337)gaG>gaC	p.E779D		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	779					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGATGCTTTTCTCTTCAGTTT	0.403													59	154					0	0	0	0	G	43045107	C	G	43045107	3	3	506	1	0	0	0	0	1	0	0	0	16773	912	32	2	1405	2	TTBK2	15	43045107	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	1041923	43045107	59486285	160	97848											
CEP152	22995	broad.mit.edu	37	chr15	49064753	49064753	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttatgacagtctttGaggtcattttgtaactgaga	10	18	8	5	0	3	3	1	3	2	1	3	4	3	3	0	1	1	1	0	1	2	7			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:49064753G>T	ENST00000380950.2	-	13	1900	c.1713C>A	c.(1711-1713)ctC>ctA	p.L571L	CEP152_ENST00000399334.3_Silent_p.L571L|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Silent_p.L478L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	571					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			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)		GACAGTCTTTGAGGTCATTTT	0.383													32	156					1.62565e-12	1.73753e-12	1	0	T	49064753	G	T	49064753	2	4	506	1	0	0	0	0	0	0	0	1	3277	1277	45	2		2	CEP152	15	49064753	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	6019646	49064753	53466639	161	97849											
NEDD4	4734	broad.mit.edu	37	chr15	56126259	56126259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaaaccactgtataacctGatgatttgcactgtagccat	13	11	6	11	0	0	2	0	2	0	0	0	2	0	2	4	0	4	3	4	0	5	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:56126259G>C	ENST00000508342.1	-	22	3963	c.3664C>G	c.(3664-3666)Cag>Gag	p.Q1222E	NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1206E|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1150E|NEDD4_ENST00000435532.3_Missense_Mutation_p.Q803E			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1222	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGTATAACCTGATGATTTGCA	0.323													20	98					0	0	0	0	C	56126259	G	C	56126259	3	2	506	1	0	0	0	0	1	0	0	0	10380	1299	45	2	311	2	NEDD4	15	56126259	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	7061506	56126259	46405133	162	97850											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059199	79059199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgggatgaagtcagcCtcgttgaagagctcgtggct	7	10	16	8	3	1	3	1	2	0	1	3	4	1	4	1	3	3	3	1	3	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:79059199C>T	ENST00000388820.4	-	19	3264	c.3054G>A	c.(3052-3054)gaG>gaA	p.E1018E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1018					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGTCAGCCTCGTTGAAGA	0.662													4	15					0	0	0	0	T	79059199	C	T	79059199	2	4	506	1	0	0	0	0	0	0	0	1	271	680	24	4		4	ADAMTS7	15	79059199	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	22932940	79059199	23472193	163	97851											
AKAP13	11214	broad.mit.edu	37	chr15	86284631	86284631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatgacctggagcgactgCgtgctgcccagaaacagctt	10	8	12	11	2	0	2	0	1	0	1	0	4	0	3	2	1	6	3	2	1	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:86284631C>T	ENST00000394518.2	+	35	8058	c.7963C>T	c.(7963-7965)Cgt>Tgt	p.R2655C	AKAP13_ENST00000394510.2_Missense_Mutation_p.R900C|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2659C|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2655	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGCGACTGCGTGCTGCCCA	0.632													7	36					0	0	0	0	T	86284631	C	T	86284631	3	4	506	1	0	0	0	0	1	0	0	0	449	768	27	1	8167	1	AKAP13	15	86284631	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	7225432	86284631	16246761	164	97852											
TSC2	7249	broad.mit.edu	37	chr16	2135263	2135263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcggtcggtgcagctcctCgaccagatcccatcatacga	9	7	11	14	4	1	1	1	0	0	1	5	4	3	1	3	2	4	2	3	2	1	1	rs137854401		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:2135263C>T	ENST00000219476.3	+	36	5232	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	TSC2_ENST00000568454.1_Silent_p.L1478L|TSC2_ENST00000382538.6_Silent_p.L1419L|TSC2_ENST00000439673.2_Silent_p.L1431L|TSC2_ENST00000350773.4_Silent_p.L1511L|TSC2_ENST00000353929.4_Silent_p.L1491L|TSC2_ENST00000401874.2_Silent_p.L1467L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1534	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCAGCTCCTCGACCAGATCC	0.667			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				10	46					0	0	0	0	T	2135263	C	T	2135263	2	4	506	1	0	0	0	0	0	0	0	1	16701	871	31	1		1	TSC2	16	2135263	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		2135263	88219490	165	97853											
USP31	57478	broad.mit.edu	37	chr16	23091426	23091426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcctcttaaccacgtgagGtgtcatgtccaggccagtca	8	10	10	13	1	3	1	2	1	1	0	5	1	5	1	4	2	1	1	4	2	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:23091426G>A	ENST00000219689.7	-	13	2016	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	673					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACCACGTGAGGTGTCATGTCC	0.527													23	95					0	0	0	0	A	23091426	G	A	23091426	3	1	506	1	0	0	0	0	1	0	0	0	17158	1261	44	4	2057	4	USP31	16	23091426	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	20956163	23091426	67263327	166	97854											
ATP2A1	487	broad.mit.edu	37	chr16	28913312	28913312	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgacaacttctccaccatCgtagctgctgtggaggaggg	9	8	13	11	2	1	0	0	0	1	0	3	4	1	2	2	3	3	3	2	3	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:28913312C>T	ENST00000395503.4	+	16	2413	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	ATP2A1_ENST00000536376.1_Silent_p.I618I|ATP2A1_ENST00000357084.3_Silent_p.I743I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	743					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTCCACCATCGTAGCTGCTG	0.577													17	53					0	0	0	0	T	28913312	C	T	28913312	2	4	506	1	0	0	0	0	0	0	0	1	1140	874	31	1		1	ATP2A1	16	28913312	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	5821886	28913312	61441441	167	97855											
NUP93	9688	broad.mit.edu	37	chr16	56868678	56868678	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaaactagagaatgaCggaagtagaaaggtgagtta	16	8	14	3	1	0	4	0	2	0	2	0	7	0	6	0	3	1	2	0	3	7	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:56868678C>T	ENST00000564887.1	+	14	2030	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	NUP93_ENST00000308159.5_Silent_p.D590D|NUP93_ENST00000569842.1_Silent_p.D590D|NUP93_ENST00000542526.1_Silent_p.D467D	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	590					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TAGAGAATGACGGAAGTAGAA	0.313													13	47					0	0	0	0	T	56868678	C	T	56868678	2	4	506	1	0	0	0	0	0	0	0	1	10843	535	19	1		1	NUP93	16	56868678	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	27955366	56868678	33486075	168	97856											
CES3	23491	broad.mit.edu	37	chr16	67006327	67006327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcgaagatcaaacctGcctgggtgaaggctgatcat	10	11	11	9	1	2	3	2	2	0	1	2	4	2	3	2	2	3	1	2	2	3	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:67006327G>C	ENST00000303334.4	+	11	1431	c.1360G>C	c.(1360-1362)Gcc>Ccc	p.A454P	CES3_ENST00000394037.1_Missense_Mutation_p.A454P|CES3_ENST00000543856.1_Missense_Mutation_p.A93P	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	454						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GATCAAACCTGCCTGGGTGAA	0.537													49	213					0	0	0	0	C	67006327	G	C	67006327	3	2	506	1	0	0	0	0	1	0	0	0	3300	1319	46	4	1402	4	CES3	16	67006327	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	10137649	67006327	23348426	169	97857											
NIP7	51388	broad.mit.edu	37	chr16	69374142	69374142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatttccggggacaagctGgtgtcgctggggacctgctt	7	11	14	9	2	0	0	0	0	0	0	2	2	1	2	2	5	2	3	2	5	3	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:69374142G>A	ENST00000254940.5	+	3	589	c.189G>A	c.(187-189)ctG>ctA	p.L63L	NIP7_ENST00000254941.6_Silent_p.L63L|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_Silent_p.L63L|RP11-343C2.9_ENST00000563634.1_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	63					ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGACAAGCTGGTGTCGCTGG	0.517													21	83					0	0	0	0	A	69374142	G	A	69374142	2	1	506	1	0	0	0	0	0	0	0	1	10491	1335	47	4		4	NIP7	16	69374142	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2367815	69374142	20980611	170	97858											
MON1B	22879	broad.mit.edu	37	chr16	77228397	77228397	+	Missense_Mutation	SNP	A	A	C																															ccgcatcttcgcacacaagcAgaactatgacctccgccgcc																										TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:77228397A>C	ENST00000248248.3	+	4	991	c.641A>C	c.(640-642)cAg>cCg	p.Q214P	MON1B_ENST00000439557.2_Missense_Mutation_p.Q105P|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.Q68P	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	214							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCACACAAGCAGAACTATGAC	0.627													24	80					0	0	0	0	C	77228397	A	C	77228397	3	2	506	1	0	0	0	0	1	0	0	0	9769	188	7	5	651	5	MON1B	16	77228397	Missense_Mutation	SNP	A	TCGA-UF-A7JT-01A-11D-A34J-08	7854255	77228397	13126356	171	97859	1166	2									
MON1B	22879	broad.mit.edu	37	chr16	77228398	77228398	+	Missense_Mutation	SNP	G	G	T																															cgcatcttcgcacacaagcaGaactatgacctccgccgcct																										TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:77228398G>T	ENST00000248248.3	+	4	992	c.642G>T	c.(640-642)caG>caT	p.Q214H	MON1B_ENST00000439557.2_Missense_Mutation_p.Q105H|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.Q68H	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	214							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CACACAAGCAGAACTATGACC	0.627													24	79					2.98393e-07	3.11367e-07	1	0	T	77228398	G	T	77228398	3	4	506	1	0	0	0	0	1	0	0	0	9769	933	33	2	652	2	MON1B	16	77228398	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1	77228398	13126355	172	97860	1166	2									
MTHFSD	64779	broad.mit.edu	37	chr16	86575788	86575788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatggcatattccagatcGgcgtagccttctcccttccc	7	12	7	15	2	2	1	1	0	1	1	6	1	4	1	4	2	1	2	4	2	2	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:86575788G>A	ENST00000322911.6	-	6	521	c.471C>T	c.(469-471)gcC>gcT	p.A157A	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000360900.6_Silent_p.A158A|MTHFSD_ENST00000381214.5_Silent_p.A158A|MTHFSD_ENST00000543303.2_Silent_p.A157A	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	158					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						ATTCCAGATCGGCGTAGCCTT	0.567													13	31					0	0	0	0	A	86575788	G	A	86575788	2	1	506	1	0	0	0	0	0	0	0	1	10003	1103	39	1		1	MTHFSD	16	86575788	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	9347390	86575788	3778965	173	97861											
ARRB2	409	broad.mit.edu	37	chr17	4623846	4623846	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactggcccttccagcAcccacccccacaccccctct	9	5	5	22	0	1	0	0	0	1	0	2	1	2	1	7	2	2	1	7	2	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:4623846A>G	ENST00000346341.2	+	13	1126	c.1036_splice	c.e13-1	p.A346_splice	ARRB2_ENST00000571206.1_Intron|ARRB2_ENST00000412477.3_Intron|ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000572457.1_Intron|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000269260.2_Intron|ARRB2_ENST00000574954.1_Intron	NM_001257331.1|NM_199004.1	NP_001244260.1|NP_945355.1	P32121	ARRB2_HUMAN	arrestin, beta 2	360	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCTTCCAGCACCCACCCCCA	0.617													10	27					0	0	0	0	G	4623846	A	G	4623846	5	3	506	1	0	0	0	0	0	0	1	0	985	174	6	5		5	ARRB2	17	4623846	Splice_Site	SNP	A	TCGA-UF-A7JT-01A-11D-A34J-08		4623846	76571364	174	97862											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			5	17					0	0	0	0	A	7577121	G	A	7577121	3	1	506	1	0	0	0	0	1	0	0	0	16476	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2953275	7577121	73618089	175	97863											
DNAH2	146754	broad.mit.edu	37	chr17	7636513	7636513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggggcccctatatcccgGccctgcttcggctgctcggt	2	10	13	16	4	0	0	0	0	0	0	3	0	1	0	4	5	3	3	4	5	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7636513G>T	ENST00000572933.1	+	5	1968	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	DNAH2_ENST00000570791.1_Missense_Mutation_p.A170S|DNAH2_ENST00000389173.2_Missense_Mutation_p.A170S|DNAH2_ENST00000082259.3_Missense_Mutation_p.A170S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	170	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTATATCCCGGCCCTGCTTCG	0.547													32	105					1.62565e-12	1.73753e-12	1	0	T	7636513	G	T	7636513	3	4	506	1	0	0	0	0	1	0	0	0	4639	1203	42	4	522	4	DNAH2	17	7636513	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	59392	7636513	73558697	176	97864											
DNAH2	146754	broad.mit.edu	37	chr17	7736222	7736222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtttccactgtggatgaCagcaacctagtgtatccccc	9	11	8	13	1	0	1	0	1	0	0	3	2	2	2	4	1	2	3	4	1	3	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7736222C>T	ENST00000572933.1	+	84	14414	c.12954C>T	c.(12952-12954)gaC>gaT	p.D4318D	DNAH2_ENST00000389173.2_Silent_p.D4318D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4318					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTGGATGACAGCAACCTAG	0.517													53	181					0	0	0	0	T	7736222	C	T	7736222	2	4	506	1	0	0	0	0	0	0	0	1	4639	477	17	4		4	DNAH2	17	7736222	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	99709	7736222	73458988	177	97865											
PIRT	644139	broad.mit.edu	37	chr17	10728737	10728737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcagcttcaaggtgtaggCcaagcaggtgatgaccacgc	11	7	12	11	1	2	2	2	2	0	0	2	2	2	2	2	3	2	3	2	3	3	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:10728737C>T	ENST00000580256.1	-	2	864	c.226G>A	c.(226-228)Gcc>Acc	p.A76T		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	76						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						AAGGTGTAGGCCAAGCAGGTG	0.567													6	62					0	0	0	0	T	10728737	C	T	10728737	3	4	506	1	0	0	0	0	1	0	0	0	12017	739	26	4	191	4	PIRT	17	10728737	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	2992515	10728737	70466473	178	97866											
FBXW10	10517	broad.mit.edu	37	chr17	18678497	18678497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaaagtcaaaatcaccccGaagagatggtaagaagagag	19	4	12	6	1	2	3	2	0	0	3	2	7	2	4	2	2	0	1	2	2	6	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:18678497G>A	ENST00000395667.1	+	13	2559	c.2327G>A	c.(2326-2328)cGa>cAa	p.R776Q	FBXW10_ENST00000395665.4_Missense_Mutation_p.R776Q|FBXW10_ENST00000308799.4_Intron|FBXW10_ENST00000301938.4_Missense_Mutation_p.R723Q	NM_001267585.1	NP_001254514.1	Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	776										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAATCACCCCGAAGAGATGGT	0.413													10	35					0	0	0	0	A	18678497	G	A	18678497	3	1	506	1	0	0	0	0	1	0	0	0	5808	1058	37	1	2377	1	FBXW10	17	18678497	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	7949760	18678497	62516713	179	97867											
EFCAB5	374786	broad.mit.edu	37	chr17	28269281	28269281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagaaaagaagacaaagaGaggaaatggaacttaactga	23	4	10	4	0	0	5	0	1	0	4	0	8	0	7	0	2	3	0	0	2	8	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:28269281G>C	ENST00000394835.3	+	2	258	c.66G>C	c.(64-66)gaG>gaC	p.E22D	EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E22D|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E22D|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E22D|EFCAB5_ENST00000534836.2_3'UTR	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	22							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGACAAAGAGAGGAAATGGA	0.338													3	8					0	0	0	0	C	28269281	G	C	28269281	3	2	506	1	0	0	0	0	1	0	0	0	4974	933	33	2	72	2	EFCAB5	17	28269281	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	9590784	28269281	52925929	180	97868											
C17orf75	64149	broad.mit.edu	37	chr17	30666951	30666951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagattagtatctgccaaGgagaggcttgacaaatgaaa	15	9	12	5	0	1	4	0	2	1	2	1	5	1	4	1	3	1	3	1	3	6	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:30666951G>A	ENST00000577809.1	-	3	277	c.228C>T	c.(226-228)tcC>tcT	p.S76S	C17orf75_ENST00000225805.4_Silent_p.S76S|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	76					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TATCTGCCAAGGAGAGGCTTG	0.478													12	47					0	0	0	0	A	30666951	G	A	30666951	2	1	506	1	0	0	0	0	0	0	0	1	1896	987	35	4		4	C17orf75	17	30666951	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2397670	30666951	50528259	181	97869											
HEATR6	63897	broad.mit.edu	37	chr17	58121213	58121213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttcatacaagggaggtccGaggcactggccaagctcaag	11	7	12	11	1	2	0	2	0	0	0	3	2	3	1	2	4	2	2	2	4	4	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:58121213G>A	ENST00000184956.6	-	20	3273	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	HEATR6_ENST00000585976.1_Missense_Mutation_p.S974L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1086							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGGGAGGTCCGAGGCACTGGC	0.463													30	84					0	0	0	0	A	58121213	G	A	58121213	3	1	506	1	0	0	0	0	1	0	0	0	7083	1059	37	1	292	1	HEATR6	17	58121213	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	27454262	58121213	23073997	182	97870											
BAHCC1	57597	broad.mit.edu	37	chr17	79425896	79425896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgccgtggaggaagactttGagttcgacgacaacagcagc	11	7	13	10	4	0	2	0	1	0	1	2	6	0	4	1	2	3	2	1	2	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:79425896G>C	ENST00000307745.7	+	24	5506	c.5506G>C	c.(5506-5508)Gag>Cag	p.E1836Q																								GGAAGACTTTGAGTTCGACGA	0.672													3	25					0	0	0	0	C	79425896	G	C	79425896	3	2	506	1	0	0	0	0	1	0	0	0	1300	1291	45	2	5415	2	BAHCC1	17	79425896	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	21304683	79425896	1769314	183	97871											
RAB12	201475	broad.mit.edu	37	chr18	8638167	8638167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcctctggatattttaagGaatgagttgtccaatagtat	12	15	9	5	0	1	1	0	1	1	0	2	3	2	3	2	2	1	2	2	2	6	6			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:8638167G>A	ENST00000329286.6	+	6	925	c.642G>A	c.(640-642)agG>agA	p.R214R		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	214					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						ATATTTTAAGGAATGAGTTGT	0.408													9	80					0	0	0	0	A	8638167	G	A	8638167	2	1	506	1	0	0	0	0	0	0	0	1	12980	1165	41	2		2	RAB12	18	8638167	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		8638167	69439081	184	97872											
PIAS2	9063	broad.mit.edu	37	chr18	44407983	44407983	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccttttggcaggagggtCttcctcttcgtcagaagagc	6	14	11	10	1	3	2	1	0	2	2	6	3	5	3	2	3	1	1	2	3	1	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:44407983C>G	ENST00000585916.1	-	11	1446	c.1447G>C	c.(1447-1449)Gac>Cac	p.D483H	PIAS2_ENST00000324794.7_Missense_Mutation_p.D483H|PIAS2_ENST00000545673.1_Missense_Mutation_p.D193H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	483					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGAGGGTCTTCCTCTTCG	0.408													17	110					0	0	0	0	G	44407983	C	G	44407983	3	3	506	1	0	0	0	0	1	0	0	0	11948	913	32	2	509	2	PIAS2	18	44407983	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	35769816	44407983	33669265	185	97873											
NETO1	81832	broad.mit.edu	37	chr18	70417625	70417625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccacatctgcaaagtcagCtgtagctcctgtccctctga	8	11	8	14	0	3	1	1	1	2	0	5	1	5	1	3	0	4	4	3	0	2	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:70417625C>A	ENST00000327305.6	-	9	1870	c.1213G>T	c.(1213-1215)Gct>Tct	p.A405S	NETO1_ENST00000299430.2_Missense_Mutation_p.A404S|NETO1_ENST00000583169.1_Missense_Mutation_p.A405S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	405					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCAAAGTCAGCTGTAGCTCCT	0.443													10	29					3.86212e-05	3.92154e-05	1	0	A	70417625	C	A	70417625	3	1	506	1	0	0	0	0	1	0	0	0	10409	797	28	4	396	4	NETO1	18	70417625	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	26009642	70417625	7659623	186	97874											
AES	166	broad.mit.edu	37	chr19	3054000	3054000	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggtcaagggcagggccagGgcctgcagctgggacagctg	7	4	20	10	0	1	0	1	0	0	0	1	1	1	1	2	6	3	4	2	6	1	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3054000G>C	ENST00000221561.8	-	7	791	c.612C>G	c.(610-612)gcC>gcG	p.A204A	AES_ENST00000586839.1_Silent_p.A81A|AES_ENST00000327141.4_Silent_p.A137A|AES_ENST00000592330.1_Intron	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	137					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		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)		GCAGGGCCAGGGCCTGCAGCT	0.736													7	24					0	0	0	0	C	3054000	G	C	3054000	2	2	506	1	0	0	0	0	0	0	0	1	352	1219	43	4		4	AES	19	3054000	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08		3054000	56074983	187	97875											
AES	166	broad.mit.edu	37	chr19	3054017	3054017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggcctgcagctgggacaGctggtgggcttggagctgct	5	8	18	10	0	0	0	0	0	0	0	0	2	0	2	1	5	5	6	1	5	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3054017G>A	ENST00000221561.8	-	7	774	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	AES_ENST00000586839.1_Silent_p.L76L|AES_ENST00000327141.4_Silent_p.L132L|AES_ENST00000592330.1_Intron	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	132					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		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)		AGCTGGGACAGCTGGTGGGCT	0.721													7	17					0	0	0	0	A	3054017	G	A	3054017	2	1	506	1	0	0	0	0	0	0	0	1	352	962	34	4		4	AES	19	3054017	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	17	3054017	56074966	188	97876											
FZR1	51343	broad.mit.edu	37	chr19	3534431	3534431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccacaggcaatgtcccctGatggggaggccatcgtcact	8	8	12	13	1	1	1	1	1	0	0	4	2	3	2	4	4	0	1	4	4	1	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3534431G>A	ENST00000441788.2	+	13	1596	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	FZR1_ENST00000395095.3_Missense_Mutation_p.D454N|FZR1_ENST00000313639.8_Missense_Mutation_p.D365N	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	454					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTCCCCTGATGGGGAGGC	0.587													5	10					0	0	0	0	A	3534431	G	A	3534431	3	1	506	1	0	0	0	0	1	0	0	0	6186	1290	45	2	1406	2	FZR1	19	3534431	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	480414	3534431	55594552	189	97877											
KHSRP	8570	broad.mit.edu	37	chr19	6416883	6416883	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccccctggaggacctGggggaccactctgcaagaca	9	5	13	14	0	1	1	0	0	1	1	1	5	1	5	4	5	1	1	4	5	1	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:6416883G>C	ENST00000398148.3	-	13	1285	c.1193C>G	c.(1192-1194)cCa>cGa	p.P398R		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	398	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGAGGACCTGGGGGACCACT	0.667													10	33					0	0	0	0	C	6416883	G	C	6416883	3	2	506	1	0	0	0	0	1	0	0	0	8202	1348	47	4	974	4	KHSRP	19	6416883	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2882452	6416883	52712100	190	97878											
ELAVL1	1994	broad.mit.edu	37	chr19	8032618	8032618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accattgaaactggtaattgCctcttctgcctccgaccgtt	8	13	7	13	2	2	1	0	1	2	0	3	2	3	1	5	1	3	2	5	1	2	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:8032618C>T	ENST00000407627.2	-	5	616	c.487G>A	c.(487-489)Gca>Aca	p.A163T	ELAVL1_ENST00000596459.1_Missense_Mutation_p.A163T|ELAVL1_ENST00000351593.5_Missense_Mutation_p.A190T|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	163	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGGTAATTGCCTCTTCTGCC	0.483													16	69					0	0	0	0	T	8032618	C	T	8032618	3	4	506	1	0	0	0	0	1	0	0	0	5087	739	26	4	501	4	ELAVL1	19	8032618	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	1615735	8032618	51096365	191	97879											
ZNF846	162993	broad.mit.edu	37	chr19	9868876	9868876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagtaaggtatgaagaatGggtgaaggctttcccacact	13	10	11	7	0	1	3	1	2	0	1	2	3	2	3	1	3	0	3	1	3	5	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:9868876G>A	ENST00000397902.2	-	6	1290	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	ZNF846_ENST00000588267.1_Missense_Mutation_p.H164Y|ZNF846_ENST00000592859.1_Missense_Mutation_p.H164Y|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TATGAAGAATGGGTGAAGGCT	0.393													25	80					0	0	0	0	A	9868876	G	A	9868876	3	1	506	1	0	0	0	0	1	0	0	0	18285	1348	47	4	728	4	ZNF846	19	9868876	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1836258	9868876	49260107	192	97880											
KEAP1	9817	broad.mit.edu	37	chr19	10602303	10602303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagccgccgacggcataGatgtggccatcgatgacccc	8	6	14	13	4	0	2	0	1	0	1	1	5	0	3	5	3	1	1	5	3	1	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:10602303G>C	ENST00000171111.5	-	3	1822	c.1275C>G	c.(1273-1275)atC>atG	p.I425M	KEAP1_ENST00000393623.2_Missense_Mutation_p.I425M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGACGGCATAGATGTGGCCAT	0.662													6	18					0	0	0	0	C	10602303	G	C	10602303	3	2	506	1	0	0	0	0	1	0	0	0	8193	932	33	2	615	2	KEAP1	19	10602303	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	733427	10602303	48526680	193	97881											
RASAL3	64926	broad.mit.edu	37	chr19	15569398	15569398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccagatccgcacatccCgctcggcacccaggtccagt	7	6	11	17	3	0	1	0	0	0	1	4	1	3	1	5	3	0	3	5	3	0	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:15569398C>T	ENST00000343625.6	-	7	811	c.731G>A	c.(730-732)cGg>cAg	p.R244Q		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	244	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCGCACATCCCGCTCGGCACC	0.637													6	17					0	0	0	0	T	15569398	C	T	15569398	3	4	506	1	0	0	0	0	1	0	0	0	13147	652	23	1	2352	1	RASAL3	19	15569398	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	4967095	15569398	43559585	194	97882											
SIN3B	23309	broad.mit.edu	37	chr19	16980532	16980532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaccgggacagcccccagGggcagaccacagaccccagt	11	1	13	16	1	0	2	0	0	0	2	0	4	0	4	6	4	1	1	6	4	0	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:16980532G>A	ENST00000379803.1	+	14	2178	c.2164G>A	c.(2164-2166)Ggg>Agg	p.G722R	SIN3B_ENST00000595541.1_Missense_Mutation_p.G280R|SIN3B_ENST00000248054.5_Missense_Mutation_p.G690R	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	722					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCCCCCAGGGGCAGACCAC	0.682													5	44					0	0	0	0	A	16980532	G	A	16980532	3	1	506	1	0	0	0	0	1	0	0	0	14414	1232	43	4	2218	4	SIN3B	19	16980532	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1411134	16980532	42148451	195	97883											
EXOSC5	56915	broad.mit.edu	37	chr19	41898788	41898788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaccaggcagcccaatcttCggcctcaggatcacttcgag	9	9	9	14	2	3	0	2	0	1	0	5	2	3	1	3	3	2	1	3	3	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:41898788C>T	ENST00000221233.4	-	2	396	c.246G>A	c.(244-246)ccG>ccA	p.P82P	CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	82					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GCCCAATCTTCGGCCTCAGGA	0.592													12	41					0	0	0	0	T	41898788	C	T	41898788	2	4	506	1	0	0	0	0	0	0	0	1	5355	871	31	1		1	EXOSC5	19	41898788	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	24918256	41898788	17230195	196	97884											
PSG11	5680	broad.mit.edu	37	chr19	43523106	43523106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaccacaggtagcttgcGtccggagtctcaggattaca	10	9	10	12	2	1	0	1	0	1	0	4	2	3	2	3	3	3	2	3	3	2	3	rs149472706		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:43523106G>A	ENST00000401740.1	-	3	628	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Silent_p.D175D|PSG11_ENST00000403486.1_Silent_p.D53D|PSG11_ENST00000306322.7_Silent_p.D53D			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	175	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGTAGCTTGCGTCCGGAGTCT	0.522													6	412					0	0	0	0	A	43523106	G	A	43523106	2	1	506	1	0	0	0	0	0	0	0	1	12733	1136	40	1		1	PSG11	19	43523106	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	1624318	43523106	15605877	197	97885											
ZNF222	7673	broad.mit.edu	37	chr19	44536389	44536389	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttagtcagagctcacgtCtgcaaactcatcaaagagtc	14	10	7	10	1	5	2	4	0	1	2	6	2	5	2	0	0	3	2	0	0	4	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:44536389C>T	ENST00000187879.8	+	4	724	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	ZNF222_ENST00000391960.3_Silent_p.L228L|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GAGCTCACGTCTGCAAACTCA	0.433													37	144					0	0	0	0	T	44536389	C	T	44536389	2	4	506	1	0	0	0	0	0	0	0	1	17871	912	32	2		2	ZNF222	19	44536389	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	1013283	44536389	14592594	198	97886											
ZNF233	353355	broad.mit.edu	37	chr19	44771188	44771188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacctcctcagccacCagcctggcccaagaccccag	9	4	6	22	0	2	1	2	0	0	1	3	1	3	1	9	1	2	0	9	1	1	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:44771188C>T	ENST00000592581.1	+	4	418	c.312C>T	c.(310-312)acC>acT	p.T104T	ZNF233_ENST00000391958.2_Intron|ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000589522.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_001207005.1	NP_001193934.1	A6NK53	ZN233_HUMAN	zinc finger protein 233	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				cctcagccaccagcctggccc	0.557													8	9					0	0	0	0	T	44771188	C	T	44771188	2	4	506	1	0	0	0	0	0	0	0	1	17881	609	21	4		4	ZNF233	19	44771188	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	234799	44771188	14357795	199	97887											
PNMAL1	55228	broad.mit.edu	37	chr19	46974119	46974119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcttccctcacaaaaatCttgttgagcacgcggtacgg	9	12	8	12	3	3	1	1	1	2	0	5	1	4	1	1	2	2	3	1	2	3	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:46974119C>G	ENST00000313683.10	-	2	479	c.174G>C	c.(172-174)aaG>aaC	p.K58N	PNMAL1_ENST00000602246.1_Missense_Mutation_p.K58N|PNMAL1_ENST00000438932.2_Missense_Mutation_p.K58N	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	58										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tcacaaaaatcttgttgagca	0.547													6	75					0	0	0	0	G	46974119	C	G	46974119	3	3	506	1	0	0	0	0	1	0	0	0	12229	912	32	2	1175	2	PNMAL1	19	46974119	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	2202931	46974119	12154864	200	97888											
TRPM4	54795	broad.mit.edu	37	chr19	49703924	49703924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggctggtagcctatggCgtggccacggaggggctcct	4	9	18	10	2	0	0	0	0	0	0	1	1	1	1	3	7	1	3	3	7	2	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:49703924C>T	ENST00000252826.5	+	19	2961	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G	TRPM4_ENST00000355712.5_Silent_p.G591G|TRPM4_ENST00000427978.2_Silent_p.G800G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	945					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TAGCCTATGGCGTGGCCACGG	0.607													14	45					0	0	0	0	T	49703924	C	T	49703924	2	4	506	1	0	0	0	0	0	0	0	1	16683	755	27	1		1	TRPM4	19	49703924	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	2729805	49703924	9425059	201	97889											
ZNF765	91661	broad.mit.edu	37	chr19	53911277	53911277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcacatatttcacactGaagagaaaattgataatcaa	19	10	5	7	0	2	3	2	2	0	1	2	4	2	3	0	0	2	1	0	0	7	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:53911277G>A	ENST00000396408.3	+	4	586	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATTTCACACTGAAGAGAAAAT	0.383													30	130					0	0	0	0	A	53911277	G	A	53911277	3	1	506	1	0	0	0	0	1	0	0	0	18233	1291	45	2	479	2	ZNF765	19	53911277	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	4207353	53911277	5217706	202	97890											
NLRP12	91662	broad.mit.edu	37	chr19	54314151	54314151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgtggcactctggttcatCtccctgcagttgatgtagaa	7	13	10	11	1	3	2	1	1	2	1	5	2	4	2	2	2	1	5	2	2	2	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:54314151C>T	ENST00000324134.6	-	3	930	c.762G>A	c.(760-762)gaG>gaA	p.E254E	NLRP12_ENST00000351894.4_Silent_p.E254E|NLRP12_ENST00000535162.1_Silent_p.E254E|NLRP12_ENST00000391775.3_Silent_p.E254E|NLRP12_ENST00000391772.1_Silent_p.E254E|NLRP12_ENST00000354278.3_Silent_p.E254E|NLRP12_ENST00000391773.1_Silent_p.E254E|NLRP12_ENST00000345770.5_Silent_p.E254E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	254	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTGGTTCATCTCCCTGCAGT	0.567													6	41					0	0	0	0	T	54314151	C	T	54314151	2	4	506	1	0	0	0	0	0	0	0	1	10544	912	32	2		2	NLRP12	19	54314151	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	402874	54314151	4814832	203	97891											
LILRA3	11026	broad.mit.edu	37	chr19	54803071	54803071	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacacatagggagcgcgCgagtcataaccatagcacct	13	5	10	13	3	1	0	1	0	0	0	1	3	1	1	3	1	3	1	3	1	3	3	rs147831783	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:54803071C>T	ENST00000391745.1	-	8	973	c.657G>A	c.(655-657)tcG>tcA	p.S219S	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Silent_p.S202S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGAGCGCGCGAGTCATAAC	0.607													29	136					0	0	0	0	T	54803071	C	T	54803071	2	4	506	1	0	0	0	0	0	0	0	1	8840	755	27	1		1	LILRA3	19	54803071	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	488920	54803071	4325912	204	97892											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850179	58850179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggttgtccacacaggggcGaagccccatgagtgtaagga	11	6	14	10	1	0	1	0	1	0	0	1	3	1	2	3	4	1	2	3	4	2	2	rs139283341	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:58850179G>A	ENST00000329665.4	+	3	1110	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A321A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACACAGGGGCGAAGCCCCATG	0.567													20	92					0	0	0	0	A	58850179	G	A	58850179	2	1	506	1	0	0	0	0	0	0	0	1	18326	1045	37	1		1	ZSCAN22	19	58850179	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	4047108	58850179	278804	205	97893											
NCOA6	23054	broad.mit.edu	37	chr20	33345723	33345723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgttgttgCtgctgctgctgctgctgctg	0	17	14	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537													4	55					0	0	0	0	T	33345723	C	T	33345723	2	4	506	1	0	0	0	0	0	0	0	1	10303	796	28	4		4	NCOA6	20	33345723	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		33345723	29679797	206	97894											
CHD6	84181	broad.mit.edu	37	chr20	40120426	40120426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttatactcgcgagacttctCaagtttctgccaggagtctg	8	13	9	11	2	3	1	1	0	3	1	5	3	3	2	1	1	2	1	1	1	3	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:40120426C>T	ENST00000373233.3	-	11	1525	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	CHD6_ENST00000309279.7_Missense_Mutation_p.E450K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	450					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGAGACTTCTCAAGTTTCTGC	0.448													24	99					0	0	0	0	T	40120426	C	T	40120426	3	4	506	1	0	0	0	0	1	0	0	0	3358	835	29	2	6907	2	CHD6	20	40120426	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	6774703	40120426	22905094	207	97895											
HRH3	11255	broad.mit.edu	37	chr20	60794907	60794907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacgatgagcagcgccatGagcgcggccagcaccgcggt	8	3	15	15	6	0	2	0	2	0	0	0	3	0	2	4	2	4	2	4	2	0	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:60794907G>A	ENST00000340177.5	-	1	404	c.120C>T	c.(118-120)ctC>ctT	p.L40L	HRH3_ENST00000317393.6_Silent_p.L40L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	40					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GCAGCGCCATGAGCGCGGCCA	0.741													7	28					0	0	0	0	A	60794907	G	A	60794907	2	1	506	1	0	0	0	0	0	0	0	1	7407	1277	45	2		2	HRH3	20	60794907	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	20674481	60794907	2230613	208	97896											
SYNJ1	8867	broad.mit.edu	37	chr21	34030113	34030113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttcactggtgtcatagtCgtcagaaaacaagtcatact	12	13	7	9	1	4	1	4	0	0	1	5	1	4	1	0	1	2	0	0	1	5	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:34030113C>T	ENST00000382499.2	-	19	2490	c.2491G>A	c.(2491-2493)Gac>Aac	p.D831N	SYNJ1_ENST00000357345.3_Missense_Mutation_p.D792N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D792N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D831N|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D787N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	792	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTGTCATAGTCGTCAGAAAAC	0.413													6	77					0	0	0	0	T	34030113	C	T	34030113	3	4	506	1	0	0	0	0	1	0	0	0	15543	884	31	1	2428	1	SYNJ1	21	34030113	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		34030113	14099782	209	97897											
RRP1B	23076	broad.mit.edu	37	chr21	45107525	45107525	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtgcagccccatccctgGaacagaaccggggcagggag	9	3	17	12	1	0	1	0	0	0	1	1	3	1	3	4	6	4	2	4	6	2	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:45107525G>T	ENST00000340648.4	+	13	1387	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	424					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCCATCCCTGGAACAGAACCG	0.612													9	30					0.000274275	0.000276369	1	0	T	45107525	G	T	45107525	4	4	506	1	0	0	0	0	0	1	0	0	13773	1175	41	2	1320	2	RRP1B	21	45107525	Nonsense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	11077412	45107525	3022370	210	97898											
RRP1B	23076	broad.mit.edu	37	chr21	45107752	45107752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccagaggacatgtctcaGagtggcccgagtggcagtca	9	6	13	13	1	2	2	2	0	1	2	3	4	2	3	3	3	0	1	3	3	0	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:45107752G>C	ENST00000340648.4	+	13	1614	c.1497G>C	c.(1495-1497)caG>caC	p.Q499H		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	499					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		ACATGTCTCAGAGTGGCCCGA	0.572													14	58					0	0	0	0	C	45107752	G	C	45107752	3	2	506	1	0	0	0	0	1	0	0	0	13773	933	33	2	1547	2	RRP1B	21	45107752	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	227	45107752	3022143	211	97899											
P2RY8	286530	broad.mit.edu	37	chrX	1584751	1584751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggccaggcccaccgcgCgcctccgctgctcccggccg	2	3	13	23	8	0	0	0	0	0	0	2	0	2	0	8	3	1	2	8	3	0	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:1584751C>T	ENST00000381297.4	-	2	911	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	234						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACCGCGCGCCTCCGCTG	0.657			T	CRLF2	"B-ALL, Downs associated ALL"								12	34					0	0	0	0	T	1584751	C	T	1584751	3	4	506	1	0	0	0	0	1	0	0	0	11426	768	27	1	382	1	P2RY8	23	1584751	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08		1584751	153685809	212	97900											
MID1	4281	broad.mit.edu	37	chrX	10442739	10442739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgtcaaatgtgtcattGaggttgatttcaggaattag	12	14	12	3	0	3	2	3	2	0	0	3	3	3	3	0	3	0	1	0	3	4	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:10442739G>A	ENST00000317552.4	-	6	1465	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	MID1_ENST00000453318.2_Silent_p.L355L|MID1_ENST00000380779.1_Silent_p.L355L|MID1_ENST00000380780.1_Silent_p.L355L|MID1_ENST00000380782.2_Silent_p.L355L|MID1_ENST00000380785.1_Silent_p.L355L|MID1_ENST00000380787.1_Silent_p.L355L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	355	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATGTGTCATTGAGGTTGATTT	0.378													12	77					0	0	0	0	A	10442739	G	A	10442739	2	1	506	1	0	0	0	0	0	0	0	1	9645	1277	45	2		2	MID1	23	10442739	Silent	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	8857988	10442739	144827821	213	97901											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560228	19560228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacaggggggagggcgcCgctgaggacagaggggctgg	8	3	23	7	2	0	3	0	2	0	1	0	6	0	5	1	8	0	2	1	8	0	0			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:19560228C>T	ENST00000397821.3	-	16	1997	c.1707G>A	c.(1705-1707)gcG>gcA	p.A569A	SH3KBP1_ENST00000541422.1_Silent_p.A308A|SH3KBP1_ENST00000379698.4_Silent_p.A532A|SH3KBP1_ENST00000379716.1_Silent_p.A331A	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	569					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGGAGGGCGCCGCTGAGGACA	0.642													7	64					0	0	0	0	T	19560228	C	T	19560228	2	4	506	1	0	0	0	0	0	0	0	1	14343	639	23	1		1	SH3KBP1	23	19560228	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	9117489	19560228	135710332	214	97902											
POLA1	5422	broad.mit.edu	37	chrX	24741352	24741352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtcatggtgaaaaatatcGagcgaacgctttacttcctt	11	13	9	8	3	1	1	1	1	0	0	3	3	2	1	1	1	3	1	1	1	5	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:24741352G>A	ENST00000379068.3	+	11	1211	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	POLA1_ENST00000379059.3_Missense_Mutation_p.E384K			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	384					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GAAAAATATCGAGCGAACGCT	0.413													29	105					0	0	0	0	A	24741352	G	A	24741352	3	1	506	1	0	0	0	0	1	0	0	0	12259	1059	37	1	1192	1	POLA1	23	24741352	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	5181124	24741352	130529208	215	97903											
FAM47A	158724	broad.mit.edu	37	chrX	34148917	34148917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacgagtcttgggaggctgCgagtggagactggacctccg	7	7	17	10	4	1	1	0	0	1	1	2	7	2	3	2	4	1	1	2	4	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:34148917C>T	ENST00000346193.3	-	1	1530	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	493										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTGCGAGTGGAGAC	0.647													22	110					0	0	0	0	T	34148917	C	T	34148917	2	4	506	1	0	0	0	0	0	0	0	1	5616	755	27	1		1	FAM47A	23	34148917	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	9407565	34148917	121121643	216	97904											
CCNB3	85417	broad.mit.edu	37	chrX	50053732	50053732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtgttgacacagaagctCactttaaggaaactttggcc	12	10	9	10	0	1	2	1	1	0	1	1	3	1	3	2	2	2	2	2	2	3	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:50053732C>G	ENST00000376042.1	+	6	2861	c.2563C>G	c.(2563-2565)Cac>Gac	p.H855D	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H855D			Q8WWL7	CCNB3_HUMAN	cyclin B3	855					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CACAGAAGCTCACTTTAAGGA	0.532													7	15					0	0	0	0	G	50053732	C	G	50053732	3	3	506	1	0	0	0	0	1	0	0	0	2943	826	29	2	2577	2	CCNB3	23	50053732	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	15904815	50053732	105216828	217	97905											
HUWE1	10075	broad.mit.edu	37	chrX	53575991	53575991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggggatggatgtggaCggtggagccaccgcttgcat	7	9	17	8	2	0	0	0	0	0	0	0	4	0	4	2	6	3	3	2	6	0	2			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:53575991C>T	ENST00000342160.3	-	66	10421	c.9964G>A	c.(9964-9966)Gtc>Atc	p.V3322I	HUWE1_ENST00000262854.6_Missense_Mutation_p.V3322I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3322					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGATGTGGACGGTGGAGCCA	0.527													7	29					0	0	0	0	T	53575991	C	T	53575991	3	4	506	1	0	0	0	0	1	0	0	0	7514	536	19	1	3232	1	HUWE1	23	53575991	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	3522259	53575991	101694569	218	97906											
KLF8	11279	broad.mit.edu	37	chrX	56310859	56310859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagccttttcggtgcacaGactgcaaccgcagcttttct	8	12	8	13	2	2	1	1	0	1	1	3	1	2	1	2	1	5	4	2	1	2	4			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:56310859G>C	ENST00000468660.1	+	6	1300	c.1012G>C	c.(1012-1014)Gac>Cac	p.D338H	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TCGGTGCACAGACTGCAACCG	0.562													8	37					0	0	0	0	C	56310859	G	C	56310859	3	2	506	1	0	0	0	0	1	0	0	0	8404	942	33	2	1034	2	KLF8	23	56310859	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	2734868	56310859	98959701	219	97907											
PGAM4	441531	broad.mit.edu	37	chrX	77225022	77225022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcctgcccgccgcgcttCgcctcctcgtggcccgccgg	1	6	13	21	8	0	0	0	0	0	0	3	0	1	0	7	2	2	1	7	2	0	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:77225022C>T	ENST00000458128.1	-	1	113	c.114G>A	c.(112-114)gcG>gcA	p.A38A	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	38					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CGCCGCGCTTCGCCTCCTCGT	0.627													61	171					0	0	0	0	T	77225022	C	T	77225022	2	4	506	1	0	0	0	0	0	0	0	1	11847	871	31	1		1	PGAM4	23	77225022	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	20914163	77225022	78045538	220	97908											
CAPN6	827	broad.mit.edu	37	chrX	110495609	110495609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatagcttgtacttctcctCaacaagctcagtgtatcttc	10	14	6	11	0	4	0	2	0	2	0	6	1	4	0	1	0	4	4	1	0	6	6			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:110495609C>T	ENST00000324068.1	-	5	792	c.625G>A	c.(625-627)Gag>Aag	p.E209K	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	209	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TACTTCTCCTCAACAAGCTCA	0.433													9	82					0	0	0	0	T	110495609	C	T	110495609	3	4	506	1	0	0	0	0	1	0	0	0	2655	835	29	2	1336	2	CAPN6	23	110495609	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	33270587	110495609	44774951	221	97909											
AMOT	154796	broad.mit.edu	37	chrX	112058609	112058609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagtcttgccaccttctCatagcatccttccaactctt	7	14	4	16	0	3	0	1	0	3	0	6	0	5	0	4	0	4	2	4	0	2	5			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:112058609C>G	ENST00000371959.3	-	2	1368	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	AMOT_ENST00000304758.1_Missense_Mutation_p.E48Q|AMOT_ENST00000524145.1_Missense_Mutation_p.E457Q|AMOT_ENST00000371958.1_Missense_Mutation_p.E225Q|AMOT_ENST00000371962.1_Missense_Mutation_p.E225Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	457					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCCACCTTCTCATAGCATCCT	0.463													68	261					0	0	0	0	G	112058609	C	G	112058609	3	3	506	1	0	0	0	0	1	0	0	0	582	835	29	2	1925	2	AMOT	23	112058609	Missense_Mutation	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	1563000	112058609	43211951	222	97910											
UPF3B	65109	broad.mit.edu	37	chrX	118968979	118968979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggttggtaaagctgcatCgctggacgatcctgaagtac	9	10	12	10	2	0	1	0	1	0	0	2	3	1	2	2	3	3	6	2	3	4	3	rs149544140		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:118968979C>T	ENST00000276201.2	-	11	1383	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	UPF3B_ENST00000345865.2_Silent_p.A425A	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	438	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AAAGCTGCATCGCTGGACGAT	0.413													13	134					0	0	0	0	T	118968979	C	T	118968979	2	4	506	1	0	0	0	0	0	0	0	1	17102	871	31	1		1	UPF3B	23	118968979	Silent	SNP	C	TCGA-UF-A7JT-01A-11D-A34J-08	6910370	118968979	36301581	223	97911											
BCORL1	63035	broad.mit.edu	37	chrX	129150170	129150170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagccaaggccgtggtccGgagttcccacagacccaagg	11	4	12	14	2	0	1	0	0	0	1	2	2	2	2	5	4	1	1	5	4	3	1			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:129150170G>A	ENST00000540052.1	+	3	3466	c.3422G>A	c.(3421-3423)cGg>cAg	p.R1141Q	BCORL1_ENST00000218147.7_Missense_Mutation_p.R1141Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1141Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1141Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1141					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGTGGTCCGGAGTTCCCAC	0.587													5	12					0	0	0	0	A	129150170	G	A	129150170	3	1	506	1	0	0	0	0	1	0	0	0	1391	1116	39	1	3432	1	BCORL1	23	129150170	Missense_Mutation	SNP	G	TCGA-UF-A7JT-01A-11D-A34J-08	10181191	129150170	26120390	224	97912											
TAS1R1	80835	broad.mit.edu	37	chr1	6635087	6635087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactggcaaggtgtgggtcGcctcagaagcctgggccctc	6	8	15	12	1	1	2	1	1	0	1	3	2	1	2	3	4	1	1	3	4	2	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:6635087G>A	ENST00000333172.6	+	3	1088	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.A299T	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	299					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGTGGGTCGCCTCAGAAGC	0.647													15	45					0	0	0	0	A	6635087	G	A	6635087	3	1	507	1	0	0	0	0	1	0	0	0	15653	1087	38	1	905	1	TAS1R1	1	6635087	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		6635087	242615534	1	97913											
KIAA0754	643314	broad.mit.edu	37	chr1	39877390	39877390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggagtaactcctctagttGagctacagaatcaaatctct	14	11	7	9	0	3	2	1	1	2	1	5	3	4	3	1	1	3	3	1	1	6	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:39877390G>A	ENST00000530275.1	+	1	1240	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	349										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTCTAGTTGAGCTACAGAA	0.418													21	63					0	0	0	0	A	39877390	G	A	39877390	3	1	507	1	0	0	0	0	1	0	0	0	8243	1291	45	2	1455	2	KIAA0754	1	39877390	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	33242303	39877390	209373231	2	97914											
CAP1	10487	broad.mit.edu	37	chr1	40537170	40537170	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctatggaacgggcagAagttggtcaccacagtgaca	13	6	12	10	1	1	3	1	1	0	2	1	4	1	4	2	3	1	2	2	3	3	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:40537170A>C	ENST00000372797.3	+	13	1954	c.1393A>C	c.(1393-1395)Aag>Cag	p.K465Q	CAP1_ENST00000372792.2_Missense_Mutation_p.K465Q|CAP1_ENST00000372805.3_Missense_Mutation_p.K465Q|CAP1_ENST00000372798.1_Missense_Mutation_p.K464Q|CAP1_ENST00000372802.1_Missense_Mutation_p.K464Q|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.K464Q	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	465					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACGGGCAGAAGTTGGTCAC	0.463													14	38					0	0	0	0	C	40537170	A	C	40537170	3	2	507	1	0	0	0	0	1	0	0	0	2644	247	9	5	1439	5	CAP1	1	40537170	Missense_Mutation	SNP	A	TCGA-UF-A7JV-01A-11D-A34J-08	659780	40537170	208713451	3	97915											
LEPR	3953	broad.mit.edu	37	chr1	66102290	66102290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctaatagctcatgggaGatagaggcccaggcattttt	10	13	10	8	0	2	2	1	0	1	2	3	3	2	2	1	3	1	2	1	3	3	6			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:66102290G>A	ENST00000349533.6	+	20	3275	c.3090G>A	c.(3088-3090)gaG>gaA	p.E1030E	LEPR_ENST00000406510.3_Silent_p.E97E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1030					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTCATGGGAGATAGAGGCCC	0.388													57	145					0	0	0	0	A	66102290	G	A	66102290	2	1	507	1	0	0	0	0	0	0	0	1	8781	933	33	2		2	LEPR	1	66102290	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	25565120	66102290	183148331	4	97916											
CLCC1	23155	broad.mit.edu	37	chr1	109477468	109477468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggccagagacaggcttggCcgactggctgctttcagtac	7	10	13	11	1	1	1	1	0	0	1	1	3	1	1	2	4	2	4	2	4	1	4	rs144141792	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:109477468C>T	ENST00000369971.2	-	11	1609	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000348264.2_Missense_Mutation_p.A309T|CLCC1_ENST00000415331.1_Missense_Mutation_p.A444T|CLCC1_ENST00000369969.2_Missense_Mutation_p.A373T|CLCC1_ENST00000369970.3_Missense_Mutation_p.A444T|CLCC1_ENST00000302500.4_Missense_Mutation_p.A373T|CLCC1_ENST00000369968.2_Missense_Mutation_p.A309T|CLCC1_ENST00000356970.2_Missense_Mutation_p.A494T|CLCC1_ENST00000369976.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	494						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		ACAGGCTTGGCCGACTGGCTG	0.542													4	142					0	0	0	0	T	109477468	C	T	109477468	3	4	507	1	0	0	0	0	1	0	0	0	3490	739	26	4	179	4	CLCC1	1	109477468	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	43375178	109477468	139773153	5	97917											
S100A10	6281	broad.mit.edu	37	chr1	151955683	151955683	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtactacaaaatagtcatTgcatgcaatggtgaggcccg	12	10	11	8	1	1	1	1	1	0	0	1	1	1	1	1	2	4	3	1	2	6	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:151955683T>A	ENST00000368811.3	-	3	909	c.250A>T	c.(250-252)Aat>Tat	p.N84Y	S100A10_ENST00000368809.1_Missense_Mutation_p.N84Y	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	84					signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAATAGTCATTGCATGCAATG	0.473													49	167					0	0	0	0	A	151955683	T	A	151955683	3	1	507	1	0	0	0	0	1	0	0	0	13857	1812	63	5	47	5	S100A10	1	151955683	Missense_Mutation	SNP	T	TCGA-UF-A7JV-01A-11D-A34J-08	42478215	151955683	97294938	6	97918											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987239	154987239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagctgggccacctatgtGacctcaccatccggacgcag	8	6	11	16	2	1	1	1	1	0	0	2	2	2	2	6	2	1	2	6	2	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:154987239G>A	ENST00000368426.3	+	3	240	c.103G>A	c.(103-105)Gac>Aac	p.D35N	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D69N|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D35N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D35N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	35	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCACCTATGTGACCTCACCAT	0.607													27	89					0	0	0	0	A	154987239	G	A	154987239	3	1	507	1	0	0	0	0	1	0	0	0	17649	1290	45	2	105	2	ZBTB7B	1	154987239	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	3031556	154987239	94263382	7	97919											
TNN	63923	broad.mit.edu	37	chr1	175049481	175049481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgagattcttggtttgctgCctggaaccaagtacatagtc	10	13	10	8	0	1	1	0	1	1	1	2	3	1	2	2	2	4	3	2	2	4	5			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:175049481C>T	ENST00000239462.4	+	4	1080	c.967C>T	c.(967-969)Cct>Tct	p.P323S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	323	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGTTTGCTGCCTGGAACCAA	0.532													6	72					0	0	0	0	T	175049481	C	T	175049481	3	4	507	1	0	0	0	0	1	0	0	0	16417	739	26	4	977	4	TNN	1	175049481	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	20062242	175049481	74201140	8	97920											
HEATR1	55127	broad.mit.edu	37	chr1	236749198	236749198	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctgatttgctacaccGattagttttcctggctttgt	6	19	7	9	1	2	1	0	1	2	0	3	2	3	1	2	1	2	3	2	1	2	7	rs140333539		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:236749198G>T	ENST00000366582.3	-	16	2085	c.1971C>A	c.(1969-1971)atC>atA	p.I657I	HEATR1_ENST00000366581.2_Silent_p.I657I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	657					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGCTACACCGATTAGTTTTC	0.348													15	51					1.3612e-06	1.42815e-06	1	0	T	236749198	G	T	236749198	2	4	507	1	0	0	0	0	0	0	0	1	7077	1048	37	3		3	HEATR1	1	236749198	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	61699717	236749198	12501423	9	97921											
ITSN2	50618	broad.mit.edu	37	chr2	24469021	24469023	+	In_Frame_Del	DEL	GTC	GTC	-																															gttgacttggatctgagtctGtcgtcatcttaacgtagttt																										TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:24469021_24469023delGTC	ENST00000355123.4	-	29	3995_3997	c.3552_3554delGAC	c.(3550-3555)aca>ac	p.TT1184del	ITSN2_ENST00000361999.3_In_Frame_Del_p.TT1157del|ITSN2_ENST00000406921.3_In_Frame_Del_p.TT1184del	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1184	SH3 5.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGAGTCTGTCGTCATCTTAA	0.384													37	138	---	---	---	---					-	24469023	GTC	-	24469021	7	5	507	1	0	1	0	1	0	0	0	0	7980	1377	48	0	1638	0	ITSN2	2	24469021	In_Frame_Del	DEL	GTC	TCGA-UF-A7JV-01A-11D-A34J-08		24469021	218730352	10	97922											
PLEK	5341	broad.mit.edu	37	chr2	68607996	68607996	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatttgccaggaaatctAccaggaggtccattcgactg	13	9	10	9	1	1	1	0	0	1	1	3	4	2	3	3	3	2	0	3	3	3	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:68607996A>T	ENST00000234313.7	+	3	519	c.340A>T	c.(340-342)Acc>Tcc	p.T114S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	114					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CAGGAAATCTACCAGGAGGTC	0.463													52	190					0	0	0	0	T	68607996	A	T	68607996	3	4	507	1	0	0	0	0	1	0	0	0	12125	391	14	5	350	5	PLEK	2	68607996	Missense_Mutation	SNP	A	TCGA-UF-A7JV-01A-11D-A34J-08	44138975	68607996	174591377	11	97923											
RANBP2	5903	broad.mit.edu	37	chr2	109382704	109382704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatttaaatttggcatttcGgaaccaggaaatcaagaaaa	17	10	9	5	1	1	1	1	0	0	1	2	4	1	4	1	4	1	1	1	4	7	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:109382704G>A	ENST00000283195.6	+	20	5835	c.5709G>A	c.(5707-5709)tcG>tcA	p.S1903S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1903					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGGCATTTCGGAACCAGGAA	0.403													113	388					0	0	0	0	A	109382704	G	A	109382704	2	1	507	1	0	0	0	0	0	0	0	1	13110	1103	39	1		1	RANBP2	2	109382704	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	40774708	109382704	133816669	12	97924											
TTN	7273	broad.mit.edu	37	chr2	179455354	179455354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggtggtttgatgggccgGcaagcttttattggatcaga	8	12	14	7	1	1	2	1	1	0	1	1	3	1	3	2	5	1	3	2	5	2	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:179455354G>A	ENST00000589042.1	-	304	61322	c.61098C>T	c.(61096-61098)tgC>tgT	p.C20366C	TTN_ENST00000359218.5_Silent_p.C11426C|TTN_ENST00000342175.6_Silent_p.C11493C|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.C11301C|TTN_ENST00000342992.6_Silent_p.C17798C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.C18725C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18725	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGGCCGGCAAGCTTTTA	0.433													4	150					0	0	0	0	A	179455354	G	A	179455354	2	1	507	1	0	0	0	0	0	0	0	1	16831	1195	42	4		4	TTN	2	179455354	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	70072650	179455354	63744019	13	97925											
TTN	7273	broad.mit.edu	37	chr2	179567232	179567232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catataatggcagcggccatCattcctgaagttgtatttct	10	14	8	9	1	2	1	1	1	1	0	3	1	3	1	2	2	1	3	2	2	4	6			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:179567232C>T	ENST00000589042.1	-	107	30606	c.30382G>A	c.(30382-30384)Gat>Aat	p.D10128N	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D8884N|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D9811N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9811	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCGGCCATCATTCCTGAAG	0.433													73	261					0	0	0	0	T	179567232	C	T	179567232	3	4	507	1	0	0	0	0	1	0	0	0	16831	826	29	2	74171	2	TTN	2	179567232	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	111878	179567232	63632141	14	97926											
SPEG	10290	broad.mit.edu	37	chr2	220309638	220309638	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgagctggtggggcagCgggcagacggtcctggagca	8	5	19	9	2	0	2	0	1	0	1	1	3	1	3	1	6	3	4	1	6	1	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:220309638C>T	ENST00000312358.7	+	3	702	c.570C>T	c.(568-570)agC>agT	p.S190S	SPEG_ENST00000396698.1_Silent_p.S86S|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	190					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGTGGGGCAGCGGGCAGACGG	0.706													19	78					0	0	0	0	T	220309638	C	T	220309638	2	4	507	1	0	0	0	0	0	0	0	1	15126	767	27	1		1	SPEG	2	220309638	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	40742406	220309638	22889735	15	97927											
ALPP	250	broad.mit.edu	37	chr2	233245430	233245430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggctgccctgcgcctgctGagcaggaacccccgcggctt	5	6	14	16	3	0	1	0	1	0	0	0	3	0	2	4	3	5	4	4	3	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:233245430G>A	ENST00000392027.2	+	8	1232	c.963G>A	c.(961-963)ctG>ctA	p.L321L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	321						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCGCCTGCTGAGCAGGAACC	0.637													9	100					0	0	0	0	A	233245430	G	A	233245430	2	1	507	1	0	0	0	0	0	0	0	1	548	1277	45	2		2	ALPP	2	233245430	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	12935792	233245430	9953943	16	97928											
ANO7	50636	broad.mit.edu	37	chr2	242142813	242142813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaccagcgccaagtccttttCcagcactgggcgcgctgggg	7	7	13	14	3	0	0	0	0	0	0	2	0	2	0	4	3	3	2	4	3	2	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:242142813C>G	ENST00000274979.8	+	9	1054	c.951C>G	c.(949-951)ttC>ttG	p.F317L	ANO7_ENST00000402430.3_Missense_Mutation_p.F316L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	317						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAGTCCTTTTCCAGCACTGGG	0.687													4	11					0	0	0	0	G	242142813	C	G	242142813	3	3	507	1	0	0	0	0	1	0	0	0	701	854	30	2	1057	2	ANO7	2	242142813	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	8897383	242142813	1056560	17	97929											
PLCL2	23228	broad.mit.edu	37	chr3	17056393	17056393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaagaagatcgtaacaaCttatgacatggtgagttgtc	13	12	10	6	1	1	5	0	3	1	2	3	5	1	5	0	1	2	2	0	1	5	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:17056393C>T	ENST00000418129.2	+	3	3095	c.2630C>T	c.(2629-2631)aCt>aTt	p.T877I	PLCL2_ENST00000396755.2_Missense_Mutation_p.T877I|PLCL2_ENST00000432376.1_Missense_Mutation_p.T877I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1003					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATCGTAACAACTTATGACATG	0.478													30	111					0	0	0	0	T	17056393	C	T	17056393	3	4	507	1	0	0	0	0	1	0	0	0	12112	565	20	4	3012	4	PLCL2	3	17056393	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08		17056393	180966037	18	97930											
CLASP2	23122	broad.mit.edu	37	chr3	33602351	33602351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacagatccaagcaaaTcagcacccattttttttagt	13	12	5	11	0	1	2	1	1	0	1	2	2	2	2	3	0	3	2	3	0	4	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:33602351T>A	ENST00000399362.4	-	28	3253	c.2900A>T	c.(2899-2901)gAt>gTt	p.D967V	CLASP2_ENST00000359576.5_Missense_Mutation_p.D959V|CLASP2_ENST00000468888.2_Missense_Mutation_p.D968V|CLASP2_ENST00000461133.3_Missense_Mutation_p.D727V|CLASP2_ENST00000539981.1_Missense_Mutation_p.D737V|CLASP2_ENST00000307312.7_Missense_Mutation_p.D449V|CLASP2_ENST00000480013.1_Missense_Mutation_p.D747V	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	969										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						TCCAAGCAAATCAGCACCCAT	0.338													5	210					0	0	0	0	A	33602351	T	A	33602351	3	1	507	1	0	0	0	0	1	0	0	0	3485	1435	50	5	1689	5	CLASP2	3	33602351	Missense_Mutation	SNP	T	TCGA-UF-A7JV-01A-11D-A34J-08	16545958	33602351	164420079	19	97931											
PDCD6IP	10015	broad.mit.edu	37	chr3	33870417	33870417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtaccatcagtctatcctgGcaaaacagcagaagaaattt	16	9	7	9	0	2	2	1	0	1	2	3	2	3	2	2	1	3	3	2	1	6	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:33870417G>A	ENST00000307296.3	+	7	1167	c.790G>A	c.(790-792)Gca>Aca	p.A264T	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A269T			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	264	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GTCTATCCTGGCAAAACAGCA	0.408													4	144					0	0	0	0	A	33870417	G	A	33870417	3	1	507	1	0	0	0	0	1	0	0	0	11695	1203	42	4	831	4	PDCD6IP	3	33870417	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	268066	33870417	164152013	20	97932											
GNAI2	2771	broad.mit.edu	37	chr3	50289829	50289829	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctggtccctggctatcagGatcatccacgaggatggcta	8	10	11	12	1	2	0	2	0	0	0	5	3	5	2	3	5	0	2	3	5	2	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:50289829G>A	ENST00000313601.6	+	3	546	c.161_splice	c.e3-1	p.K54_splice	GNAI2_ENST00000266027.5_Splice_Site_p.K38_splice|GNAI2_ENST00000451956.1_Splice_Site_p.K17_splice|GNAI2_ENST00000440628.1_Splice_Site_p.K2_splice|GNAI2_ENST00000536647.1_5'UTR|GNAI2_ENST00000422163.1_Splice_Site_p.K38_splice|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	54					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TGGCTATCAGGATCATCCACG	0.587													19	61					0	0	0	0	A	50289829	G	A	50289829	5	1	507	1	0	0	0	0	0	0	1	0	6556	1188	41	2	183	2	GNAI2	3	50289829	Splice_Site	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	16419412	50289829	147732601	21	97933											
PVRL3	25945	broad.mit.edu	37	chr3	110837604	110837604	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccactggaaaacccgttGcacatattgactgggaaggt	12	8	11	10	1	0	1	0	1	0	0	0	3	0	3	2	3	3	2	2	3	4	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:110837604G>C	ENST00000485303.1	+	3	879	c.604G>C	c.(604-606)Gca>Cca	p.A202P	PVRL3_ENST00000493615.1_Missense_Mutation_p.A179P|PVRL3_ENST00000319792.3_Missense_Mutation_p.A202P	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	202	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AAAACCCGTTGCACATATTGA	0.438													4	107					0	0	0	0	C	110837604	G	C	110837604	3	2	507	1	0	0	0	0	1	0	0	0	12923	1319	46	4	614	4	PVRL3	3	110837604	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	60547775	110837604	87184826	22	97934											
ATR	545	broad.mit.edu	37	chr3	142176529	142176529	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctctgttcccataggAcccattccattaaccatatt	11	12	4	14	0	1	1	0	0	1	1	3	2	3	2	5	1	1	1	5	1	3	6			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:142176529A>T	ENST00000350721.4	-	45	7693	c.7572T>A	c.(7570-7572)ggT>ggA	p.G2524G	ATR_ENST00000383101.3_Silent_p.G2460G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2524	PI3K/PI4K.				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			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						TTCCCATAGGACCCATTCCAT	0.393								Other conserved DNA damage response genes					32	96					0	0	0	0	T	142176529	A	T	142176529	2	4	507	1	0	0	0	0	0	0	0	1	1208	262	10	5		5	ATR	3	142176529	Silent	SNP	A	TCGA-UF-A7JV-01A-11D-A34J-08	31338925	142176529	55845901	23	97935											
EIF2A	83939	broad.mit.edu	37	chr3	150301645	150301645	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctagttggagaaaattCagaaagaaacagcccttctc	14	12	7	8	0	3	3	1	0	2	3	4	4	3	3	1	1	2	1	1	1	5	6			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:150301645C>T	ENST00000460851.1	+	14	1814	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	EIF2A_ENST00000383043.3_Nonsense_Mutation_p.Q355*|EIF2A_ENST00000406576.3_Nonsense_Mutation_p.Q508*|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000273435.5_Nonsense_Mutation_p.Q564*|EIF2A_ENST00000487799.1_Nonsense_Mutation_p.Q544*|SERP1_ENST00000479209.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	569					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAGAAAATTCAGAAAGAAAC	0.328													8	28					0	0	0	0	T	150301645	C	T	150301645	4	4	507	1	0	0	0	0	0	1	0	0	5031	827	29	2	1759	2	EIF2A	3	150301645	Nonsense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	8125116	150301645	47720785	24	97936											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	59					0	0	0	0	A	178936082	G	A	178936082	3	1	507	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	28634437	178936082	19086348	25	97937											
UGT2A1	10941	broad.mit.edu	37	chr4	70512982	70512982	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtttttaagaacgccAtcacagatctcctgagacac	11	12	8	10	1	2	3	1	1	1	3	3	4	2	3	2	1	1	2	2	1	2	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr4:70512982A>G	ENST00000503640.1	-	1	436	c.381T>C	c.(379-381)gaT>gaC	p.D127D	UGT2A1_ENST00000514019.1_Silent_p.D127D|UGT2A1_ENST00000512704.1_Silent_p.D127D|UGT2A1_ENST00000286604.4_Silent_p.D127D	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	127					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAGAACGCCATCACAGATCT	0.433													20	114					0	0	0	0	G	70512982	A	G	70512982	2	3	507	1	0	0	0	0	0	0	0	1	17049	214	8	5		5	UGT2A1	4	70512982	Silent	SNP	A	TCGA-UF-A7JV-01A-11D-A34J-08		70512982	120641294	26	97938											
DDX60	55601	broad.mit.edu	37	chr4	169196507	169196507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtattacctgccatgtgtCgggaataaaatcctggaccc	11	10	9	11	1	0	0	0	0	0	0	2	2	1	2	4	2	2	1	4	2	5	3	rs145382015		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr4:169196507C>T	ENST00000393743.3	-	16	2584	c.2293G>A	c.(2293-2295)Gac>Aac	p.D765N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	765							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGCCATGTGTCGGGAATAAAA	0.403													4	127					0	0	0	0	T	169196507	C	T	169196507	3	4	507	1	0	0	0	0	1	0	0	0	4410	884	31	1	2937	1	DDX60	4	169196507	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	98683525	169196507	21957769	27	97939											
GOLPH3	64083	broad.mit.edu	37	chr5	32126603	32126603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttaatgttgttattggtGaggggatgtgttgtcatgtc	6	18	14	3	0	1	1	1	1	0	0	2	2	1	2	0	3	1	4	0	3	2	5			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr5:32126603G>A	ENST00000265070.6	-	4	927	c.612C>T	c.(610-612)ctC>ctT	p.L204L		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	204					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TGTTATTGGTGAGGGGATGTG	0.458													46	171					0	0	0	0	A	32126603	G	A	32126603	2	1	507	1	0	0	0	0	0	0	0	1	6616	1277	45	2		2	GOLPH3	5	32126603	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		32126603	148788657	28	97940											
C6	729	broad.mit.edu	37	chr5	41199960	41199960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaggctaccagaggcgCagtgcatggctgtcccccaa	10	7	12	12	1	0	2	0	1	0	1	1	2	1	2	3	3	2	4	3	3	3	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr5:41199960C>T	ENST00000263413.3	-	4	619	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	C6_ENST00000337836.5_Missense_Mutation_p.A119T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	119	TSP type-1 2.		A -> E (in allotype C6 A; dbSNP:rs1801033).		complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACCAGAGGCGCAGTGCATGGC	0.453													20	86					0	0	0	0	T	41199960	C	T	41199960	3	4	507	1	0	0	0	0	1	0	0	0	2336	710	25	4	2509	4	C6	5	41199960	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	9073357	41199960	139715300	29	97941											
ZNF131	7690	broad.mit.edu	37	chr5	43174753	43174753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaacacgtgtgcaaactGaacctgtaacatcaatgact	16	9	7	9	1	1	3	1	2	0	1	1	3	1	3	1	0	5	2	1	0	6	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr5:43174753G>A	ENST00000509634.1	+	7	1744	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	ZNF131_ENST00000505606.2_Missense_Mutation_p.E430K|ZNF131_ENST00000509156.1_Missense_Mutation_p.E464K|ZNF131_ENST00000399534.1_Missense_Mutation_p.E464K|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.E430K			P52739	ZN131_HUMAN	zinc finger protein 131	464						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGTGCAAACTGAACCTGTAAC	0.423													29	124					0	0	0	0	A	43174753	G	A	43174753	3	1	507	1	0	0	0	0	1	0	0	0	17816	1291	45	2	1314	2	ZNF131	5	43174753	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	1974793	43174753	137740507	30	97942											
PPP1R10	5514	broad.mit.edu	37	chr6	30576880	30576880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatttctggtgaacgggtCtgcaggagaatgttcaagta	12	12	12	5	1	3	2	1	1	2	1	3	3	3	2	0	3	2	3	0	3	6	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr6:30576880C>T	ENST00000376511.2	-	4	720	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	56	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTGAACGGGTCTGCAGGAGAA	0.488													42	112					0	0	0	0	T	30576880	C	T	30576880	2	4	507	1	0	0	0	0	0	0	0	1	12428	912	32	2		2	PPP1R10	6	30576880	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08		30576880	140538187	31	97943											
C4B	721	broad.mit.edu	37	chr6	31997537	31997537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcggcctggctcaccCgtcagggcagcttccaaggg	6	6	15	14	2	2	0	2	0	0	0	3	0	3	0	3	5	2	4	3	5	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr6:31997537C>T	ENST00000435363.2	+	29	3955	c.3871C>T	c.(3871-3873)Cgt>Tgt	p.R1291C	C4B_ENST00000425700.2_Missense_Mutation_p.R1291C	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1291					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										CTGGCTCACCCGTCAGGGCAG	0.652													10	165					0	0	0	0	T	31997537	C	T	31997537	3	4	507	1	0	0	0	0	1	0	0	0	2269	652	23	1	8710	1	C4B	6	31997537	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	1420657	31997537	139117530	32	97944											
LAMA2	3908	broad.mit.edu	37	chr6	129371200	129371200	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgaggaacccgcagtgtCgaatctgcaatcaaaacagc	13	7	10	11	2	2	1	1	1	1	0	3	3	2	2	1	1	4	2	1	1	5	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr6:129371200C>T	ENST00000421865.2	+	2	299	c.250C>T	c.(250-252)Cga>Tga	p.R84*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	84	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCGCAGTGTCGAATCTGCAA	0.458													24	70					0	0	0	0	T	129371200	C	T	129371200	4	4	507	1	0	0	0	0	0	1	0	0	8659	876	31	1	256	1	LAMA2	6	129371200	Nonsense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	97373663	129371200	41743867	33	97945											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97922852	97922852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcatcgaatgatgggtgccGagcgatcattcgtcacagtc	9	10	11	11	4	3	1	3	1	0	0	6	4	3	1	1	1	2	0	1	1	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:97922852G>C	ENST00000005260.8	-	14	1732	c.1517C>G	c.(1516-1518)tCg>tGg	p.S506W		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	506	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GATGGGTGCCGAGCGATCATT	0.562													30	138					0	0	0	0	C	97922852	G	C	97922852	3	2	507	1	0	0	0	0	1	0	0	0	1306	1059	37	3	22	3	BAIAP2L1	7	97922852	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		97922852	61215811	34	97946											
EPHB4	2050	broad.mit.edu	37	chr7	100410411	100410411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgttctccatgaactctgtGagaatcatgacgggcatgct	9	11	10	11	2	3	3	1	3	2	1	4	4	3	3	2	1	2	3	2	1	2	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:100410411G>A	ENST00000358173.3	-	12	2544	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	EPHB4_ENST00000360620.3_Silent_p.L692L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	692	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAACTCTGTGAGAATCATGA	0.617													15	55					0	0	0	0	A	100410411	G	A	100410411	2	1	507	1	0	0	0	0	0	0	0	1	5215	1277	45	2		2	EPHB4	7	100410411	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	2487559	100410411	58728252	35	97947											
PIK3CG	5294	broad.mit.edu	37	chr7	106509636	106509636	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccggaaggggaccgggttCgagcagaaatgcccaaccag	12	3	14	12	3	0	1	0	0	0	1	1	4	0	3	4	4	3	2	4	4	3	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:106509636C>T	ENST00000359195.3	+	2	1940	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	544					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			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						GGACCGGGTTCGAGCAGAAAT	0.542													29	75					0	0	0	0	T	106509636	C	T	106509636	4	4	507	1	0	0	0	0	0	1	0	0	11988	876	31	1	1632	1	PIK3CG	7	106509636	Nonsense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	6099225	106509636	52629027	36	97948											
DUS4L	11062	broad.mit.edu	37	chr7	107211589	107211589	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggttttatatgctcacaGgttggcttttaggacactag	10	15	10	6	0	1	0	1	0	0	0	1	1	1	1	0	4	1	4	0	4	5	8			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:107211589G>A	ENST00000265720.3	+	4	478		c.e4-1		DUS4L_ENST00000402620.1_Splice_Site	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)						tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TATGCTCACAGGTTGGCTTTT	0.338													15	62					0	0	0	0	A	107211589	G	A	107211589	5	1	507	1	0	0	0	0	0	0	1	0	4844	1014	35	4	122	4	DUS4L	7	107211589	Splice_Site	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	701953	107211589	51927074	37	97949											
LAMB4	22798	broad.mit.edu	37	chr7	107688432	107688432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctttttggagggcattcGttgagagggtcagggagccg	6	10	19	6	2	1	1	1	1	0	1	2	4	1	3	1	5	1	3	1	5	0	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:107688432G>A	ENST00000388781.3	-	28	4330	c.4247C>T	c.(4246-4248)aCg>aTg	p.T1416M	LAMB4_ENST00000205386.4_Missense_Mutation_p.T1416M|LAMB4_ENST00000388780.3_Missense_Mutation_p.T1416M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1416	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAGGGCATTCGTTGAGAGGGT	0.532													7	166					0	0	0	0	A	107688432	G	A	107688432	3	1	507	1	0	0	0	0	1	0	0	0	8666	1145	40	1	1066	1	LAMB4	7	107688432	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	476843	107688432	51450231	38	97950											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	86					0	0	0	0	T	140453136	A	T	140453136	3	4	507	1	0	0	0	0	1	0	0	0	1504	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-UF-A7JV-01A-11D-A34J-08	32764704	140453136	18685527	39	97951											
MTDH	92140	broad.mit.edu	37	chr8	98703324	98703324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaggaaaactgagcCatctgcctggagtcaagaca	16	5	12	8	0	2	3	1	1	1	2	2	6	2	6	2	3	3	0	2	3	4	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr8:98703324C>T	ENST00000336273.3	+	6	1284	c.956C>T	c.(955-957)cCa>cTa	p.P319L	MTDH_ENST00000519934.1_Missense_Mutation_p.P296L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	319					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAAACTGAGCCATCTGCCTGG	0.458													24	105					0	0	0	0	T	98703324	C	T	98703324	3	4	507	1	0	0	0	0	1	0	0	0	9987	594	21	4	978	4	MTDH	8	98703324	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08		98703324	47660698	40	97952											
ATP6V1C1	528	broad.mit.edu	37	chr8	104061168	104061168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaagttcaagagaatCtgttggctaatggaggtaag	16	9	12	4	0	2	2	1	0	1	2	2	4	2	3	0	3	0	4	0	3	6	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr8:104061168C>A	ENST00000395862.3	+	4	430	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.L16M|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L91M|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.L16M	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	91					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TCAAGAGAATCTGTTGGCTAA	0.333													38	60					1.07637e-12	1.13864e-12	1	0	A	104061168	C	A	104061168	3	1	507	1	0	0	0	0	1	0	0	0	1184	912	32	2	281	2	ATP6V1C1	8	104061168	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	5357844	104061168	42302854	41	97953											
FBXO32	114907	broad.mit.edu	37	chr8	124515703	124515703	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacggatggtcagtgccCtggaaaggaacacatggtta	11	8	14	8	1	1	0	1	0	0	0	1	3	1	3	1	5	3	2	1	5	3	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr8:124515703C>A	ENST00000517956.1	-	9	1170		c.e9-1		FBXO32_ENST00000443022.2_Splice_Site	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32											autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTCAGTGCCCTGGAAAGGAA	0.468													4	59					2.56e-06	2.66407e-06	1	0	A	124515703	C	A	124515703	5	1	507	1	0	0	0	0	0	0	1	0	5787	695	24	4	93	4	FBXO32	8	124515703	Splice_Site	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	20454535	124515703	21848319	42	97954											
ARHGAP39	80728	broad.mit.edu	37	chr8	145806379	145806379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccgcgcccggggctgctCtccgccgaggcgcgcgggga	2	4	18	17	8	1	0	0	0	1	0	2	2	1	1	4	5	2	2	4	5	0	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr8:145806379C>T	ENST00000276826.5	-	2	564	c.363G>A	c.(361-363)gaG>gaA	p.E121E	ARHGAP39_ENST00000540274.1_Silent_p.E121E|ARHGAP39_ENST00000377307.2_Silent_p.E121E			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	121					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGGGGCTGCTCTCCGCCGAGG	0.711													6	11					0	0	0	0	T	145806379	C	T	145806379	2	4	507	1	0	0	0	0	0	0	0	1	886	912	32	2		2	ARHGAP39	8	145806379	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	21290676	145806379	557643	43	97955											
RFX3	5991	broad.mit.edu	37	chr9	3225217	3225217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctctgttttctctcttttgGcttgaggctctgaagagtca	5	17	10	9	0	5	3	1	2	4	1	6	3	5	3	0	2	0	4	0	2	1	5			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr9:3225217G>C	ENST00000382004.3	-	18	2386	c.2075C>G	c.(2074-2076)gCc>gGc	p.A692G		NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	692					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCTCTTTTGGCTTGAGGCTC	0.468													80	40					0	0	0	0	C	3225217	G	C	3225217	3	2	507	1	0	0	0	0	1	0	0	0	13346	1203	42	4	178	4	RFX3	9	3225217	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		3225217	137988214	44	97956											
PALM2	114299	broad.mit.edu	37	chr9	112705410	112705410	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcccgtcaccatgatttTtatgggctaccaaaatatcg	11	12	7	11	2	2	1	2	1	0	0	3	1	2	1	3	1	2	1	3	1	5	5			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr9:112705410T>A	ENST00000448454.2	+	8	947	c.947T>A	c.(946-948)tTt>tAt	p.F316Y	PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.F314Y|PALM2_ENST00000374531.2_Missense_Mutation_p.F282Y|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.F280Y					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						ACCATGATTTTTATGGGCTAC	0.512													22	67					0	0	0	0	A	112705410	T	A	112705410	3	1	507	1	0	0	0	0	1	0	0	0	11480	1841	64	5	977	5	PALM2	9	112705410	Missense_Mutation	SNP	T	TCGA-UF-A7JV-01A-11D-A34J-08	109480193	112705410	28508021	45	97957											
OR1L8	138881	broad.mit.edu	37	chr9	125330480	125330480	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacacccagcataggagaTggtcttcttttctgacagga	11	10	10	10	0	3	3	0	1	3	2	3	5	3	4	1	3	1	1	1	3	1	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr9:125330480T>C	ENST00000304865.2	-	1	358	c.277A>G	c.(277-279)Atc>Gtc	p.I93V		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCATAGGAGATGGTCTTCTTT	0.453													23	59					0	0	0	0	C	125330480	T	C	125330480	3	2	507	1	0	0	0	0	1	0	0	0	11038	1464	51	5	656	5	OR1L8	9	125330480	Missense_Mutation	SNP	T	TCGA-UF-A7JV-01A-11D-A34J-08	12625070	125330480	15882951	46	97958											
PTGDS	5730	broad.mit.edu	37	chr9	139874684	139874684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggagaaattcaccgccttCtgcaaggcccagggcttcac	11	7	10	13	1	3	1	2	0	1	1	3	2	3	1	3	3	1	2	3	3	3	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr9:139874684C>G	ENST00000224167.2	+	5	675	c.600C>G	c.(598-600)ttC>ttG	p.F200L	PTGDS_ENST00000371625.3_Missense_Mutation_p.F166L			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	166					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCACCGCCTTCTGCAAGGCCC	0.597													16	47					0	0	0	0	G	139874684	C	G	139874684	3	3	507	1	0	0	0	0	1	0	0	0	12821	912	32	2	516	2	PTGDS	9	139874684	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	14544204	139874684	1338747	47	97959											
BEND7	222389	broad.mit.edu	37	chr10	13538828	13538828	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagaatggcctgcaacgttGactggcagttacaagtacag	12	9	12	8	1	0	2	0	1	0	1	0	2	0	2	1	2	4	6	1	2	6	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr10:13538828G>C	ENST00000341083.3	-	4	649	c.353C>G	c.(352-354)tCa>tGa	p.S118*	BEND7_ENST00000396898.2_Nonsense_Mutation_p.S183*|BEND7_ENST00000378605.3_Nonsense_Mutation_p.S131*|BEND7_ENST00000396900.2_Nonsense_Mutation_p.S170*	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	170							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGCAACGTTGACTGGCAGTT	0.423													26	83					0	0	0	0	C	13538828	G	C	13538828	4	2	507	1	0	0	0	0	0	1	0	0	1407	1294	45	2	1089	2	BEND7	10	13538828	Nonsense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		13538828	121995919	48	97960											
ANK3	288	broad.mit.edu	37	chr10	61830997	61830997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcttaagggaggttgaCttggcctgttcctcctcctc	4	14	11	12	0	1	1	0	1	1	0	5	2	4	2	4	3	1	3	4	3	1	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr10:61830997C>T	ENST00000280772.1	-	37	9833	c.9642G>A	c.(9640-9642)aaG>aaA	p.K3214K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3214					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGAGGTTGACTTGGCCTGTT	0.473													27	156					0	0	0	0	T	61830997	C	T	61830997	2	4	507	1	0	0	0	0	0	0	0	1	622	564	20	4		4	ANK3	10	61830997	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	48292169	61830997	73703750	49	97961											
FAM53B	9679	broad.mit.edu	37	chr10	126312058	126312058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccccctgggccggaggctGagagcagggcggtccaggcc	5	4	18	14	2	0	1	0	1	0	1	1	3	1	2	5	6	2	2	5	6	0	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr10:126312058G>A	ENST00000337318.3	-	5	1233	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	FAM53B_ENST00000392754.3_Missense_Mutation_p.S341L|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	341										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCCGGAGGCTGAGAGCAGGGC	0.716													5	10					0	0	0	0	A	126312058	G	A	126312058	3	1	507	1	0	0	0	0	1	0	0	0	5627	1294	45	2	250	2	FAM53B	10	126312058	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	64481061	126312058	9222689	50	97962											
ADAM8	101	broad.mit.edu	37	chr10	135083941	135083941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgagcgcgtggcacaCatccacgatgcagatggcac	9	7	14	11	3	0	2	0	1	0	1	1	3	1	2	1	3	2	3	1	3	0	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr10:135083941C>T	ENST00000445355.3	-	16	1758	c.1708G>A	c.(1708-1710)Gtg>Atg	p.V570M	ADAM8_ENST00000415217.3_Missense_Mutation_p.V570M|ADAM8_ENST00000485491.2_Missense_Mutation_p.V531M	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	531					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCGTGGCACACATCCACGATG	0.662													18	62					0	0	0	0	T	135083941	C	T	135083941	3	4	507	1	0	0	0	0	1	0	0	0	252	478	17	4	716	4	ADAM8	10	135083941	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	8771883	135083941	450806	51	97963											
TALDO1	6888	broad.mit.edu	37	chr11	763351	763351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccgccccgcagggagctcGaggagcagcacggcatccac	8	2	13	18	4	0	0	0	0	0	0	2	3	1	2	5	3	3	5	5	3	0	0	rs140952110		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:763351G>A	ENST00000319006.3	+	5	622	c.469G>A	c.(469-471)Gag>Aag	p.E157K	TALDO1_ENST00000528097.1_Missense_Mutation_p.E157K			P37837	TALDO_HUMAN	transaldolase 1	157					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CAGGGAGCTCGAGGAGCAGCA	0.697													17	71					0	0	0	0	A	763351	G	A	763351	3	1	507	1	0	0	0	0	1	0	0	0	15634	1059	37	1	487	1	TALDO1	11	763351	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		763351	134243165	52	97964			1	165		4	3	151	N	G	1.285196e-07
TALDO1	6888	broad.mit.edu	37	chr11	763465	763465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttgttgggcgcatccttGattggcatgtggcaaacacc	8	12	11	10	1	0	1	0	1	0	0	1	1	1	1	2	3	1	4	2	3	1	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:763465G>C	ENST00000319006.3	+	5	736	c.583G>C	c.(583-585)Gat>Cat	p.D195H	TALDO1_ENST00000528097.1_Missense_Mutation_p.D195H			P37837	TALDO_HUMAN	transaldolase 1	195					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCGCATCCTTGATTGGCATGT	0.577													58	258					0	0	0	0	C	763465	G	C	763465	3	2	507	1	0	0	0	0	1	0	0	0	15634	1290	45	2	601	2	TALDO1	11	763465	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	114	763465	134243051	53	97965			1	165		4	3	151	N	G	1.285196e-07
TALDO1	6888	broad.mit.edu	37	chr11	763491	763491	+	Silent	SNP	G	G	A																															catgtggcaaacaccgacaaGaaatcctatgagcccctgga																										TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:763491G>A	ENST00000319006.3	+	5	762	c.609G>A	c.(607-609)aaG>aaA	p.K203K	TALDO1_ENST00000528097.1_Silent_p.K203K			P37837	TALDO_HUMAN	transaldolase 1	203					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		ACACCGACAAGAAATCCTATG	0.602													57	237					0	0	0	0	A	763491	G	A	763491	2	1	507	1	0	0	0	0	0	0	0	1	15634	933	33	2		2	TALDO1	11	763491	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	26	763491	134243025	54	97966	1167	2	1	165		4	3	151	N	G	1.285196e-07
TALDO1	6888	broad.mit.edu	37	chr11	763501	763501	+	Missense_Mutation	SNP	G	G	A																															acaccgacaagaaatcctatGagcccctggaagaccctggt																										TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:763501G>A	ENST00000319006.3	+	5	772	c.619G>A	c.(619-621)Gag>Aag	p.E207K	TALDO1_ENST00000528097.1_Missense_Mutation_p.E207K			P37837	TALDO_HUMAN	transaldolase 1	207					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GAAATCCTATGAGCCCCTGGA	0.612													56	221					0	0	0	0	A	763501	G	A	763501	3	1	507	1	0	0	0	0	1	0	0	0	15634	1291	45	2	637	2	TALDO1	11	763501	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	10	763501	134243015	55	97967	1167	2	1	165		4	3	151	N	G	1.285196e-07
RAG1	5896	broad.mit.edu	37	chr11	36597294	36597294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacaagatcttccagctaGagataggggaagtgtataag	14	10	11	6	0	2	2	0	0	2	2	3	4	3	3	1	2	2	2	1	2	7	6			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:36597294G>C	ENST00000299440.5	+	2	2552	c.2440G>C	c.(2440-2442)Gag>Cag	p.E814Q		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	814					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTTCCAGCTAGAGATAGGGGA	0.473									Familial Hemophagocytic Lymphohistiocytosis				27	79					0	0	0	0	C	36597294	G	C	36597294	3	2	507	1	0	0	0	0	1	0	0	0	13085	943	33	2	2442	2	RAG1	11	36597294	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	35833793	36597294	98409222	56	97968											
AMOTL1	154810	broad.mit.edu	37	chr11	94599237	94599237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgctccgttccatccataGcagcagctactgggacacac	9	7	8	17	2	0	0	0	0	0	0	3	1	3	1	4	1	4	5	4	1	2	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:94599237G>C	ENST00000433060.2	+	11	2533	c.2392G>C	c.(2392-2394)Gca>Cca	p.A798P	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A748P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	798						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCCATCCATAGCAGCAGCTAC	0.552													6	82					0	0	0	0	C	94599237	G	C	94599237	3	2	507	1	0	0	0	0	1	0	0	0	583	971	34	4	2434	4	AMOTL1	11	94599237	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	58001943	94599237	40407279	57	97969											
C11orf70	85016	broad.mit.edu	37	chr11	101937227	101937227	+	Frame_Shift_Del	DEL	A	A	-																															ttttttcaggaactgaagtgAaaaaaattgaagctataaat																										TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:101937227delA	ENST00000434758.2	+	4	308	c.280delA	c.(280-282)aafs	p.K95fs	C11orf70_ENST00000526781.1_Frame_Shift_Del_p.K95fs|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	95										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AACTGAAGTGAAAAAAATTGA	0.284													7	1431	---	---	---	---					-	101937227	A	-	101937227	7	5	507	1	0	1	0	1	0	0	0	0	1670	247	9	0	176	0	C11orf70	11	101937227	Frame_Shift_Del	DEL	A	TCGA-UF-A7JV-01A-11D-A34J-08	7337990	101937227	33069289	58	97970											
LAG3	3902	broad.mit.edu	37	chr12	6883996	6883996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacctacagagatggcttCaacgtctccatcatgtataa	12	11	6	12	1	4	1	3	0	1	1	5	2	4	1	2	1	2	2	2	1	4	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr12:6883996C>G	ENST00000203629.2	+	4	1080	c.747C>G	c.(745-747)ttC>ttG	p.F249L	LAG3_ENST00000441671.2_Missense_Mutation_p.F249L	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	249	Ig-like C2-type 1.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAGATGGCTTCAACGTCTCCA	0.567													21	79					0	0	0	0	G	6883996	C	G	6883996	3	3	507	1	0	0	0	0	1	0	0	0	8653	825	29	2	761	2	LAG3	12	6883996	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08		6883996	126967899	59	97971											
CD163L1	283316	broad.mit.edu	37	chr12	7522148	7522148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctgctgacacaccaCttccgcctcggccaggtccc	6	6	9	20	2	0	1	0	1	0	0	3	1	2	1	6	2	2	2	6	2	0	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr12:7522148C>A	ENST00000313599.3	-	15	3901	c.3844G>T	c.(3844-3846)Gtg>Ttg	p.V1282L	CD163L1_ENST00000416109.2_Missense_Mutation_p.V1292L|CD163L1_ENST00000396630.1_Missense_Mutation_p.V1282L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1282	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACACACCACTTCCGCCTCG	0.632													24	84					7.4402e-23	8.00291e-23	1	0	A	7522148	C	A	7522148	3	1	507	1	0	0	0	0	1	0	0	0	2997	565	20	4	537	4	CD163L1	12	7522148	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	638152	7522148	126329747	60	97972											
TENC1	23371	broad.mit.edu	37	chr12	53449623	53449623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcactacagcaagatctCtgcagggtgaggctcccagc	10	7	11	13	0	1	2	0	1	1	1	3	2	2	2	1	2	5	4	1	2	2	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr12:53449623C>T	ENST00000314250.6	+	10	1045	c.755C>T	c.(754-756)tCt>tTt	p.S252F	TENC1_ENST00000451358.1_Missense_Mutation_p.S252F|TENC1_ENST00000546602.1_Missense_Mutation_p.S252F|TENC1_ENST00000379902.3_Missense_Mutation_p.S128F|TENC1_ENST00000552570.1_Missense_Mutation_p.S252F|TENC1_ENST00000314276.3_Missense_Mutation_p.S262F|TENC1_ENST00000549700.1_Missense_Mutation_p.S252F	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	252	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGCAAGATCTCTGCAGGGTGA	0.597													48	135					0	0	0	0	T	53449623	C	T	53449623	3	4	507	1	0	0	0	0	1	0	0	0	15852	913	32	2	902	2	TENC1	12	53449623	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	45927475	53449623	80402272	61	97973											
ANKS1B	56899	broad.mit.edu	37	chr12	99640152	99640152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttaactcttgatgttttCtcattggaaggataggcaat	11	15	9	6	0	2	1	1	1	2	0	3	3	2	3	0	3	1	3	0	3	4	6			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr12:99640152C>G	ENST00000547776.2	-	13	2246	c.2247G>C	c.(2245-2247)gaG>gaC	p.E749D	ANKS1B_ENST00000329257.7_Missense_Mutation_p.E749D|ANKS1B_ENST00000547010.1_Missense_Mutation_p.E329D	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	749						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGATGTTTTCTCATTGGAAG	0.408													13	37					0	0	0	0	G	99640152	C	G	99640152	3	3	507	1	0	0	0	0	1	0	0	0	688	912	32	2	1843	2	ANKS1B	12	99640152	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	46190529	99640152	34211743	62	97974											
MTUS2	23281	broad.mit.edu	37	chr13	29599100	29599100	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggctttgggaaaggctctCaggctggctctgccagcctg	6	9	15	11	0	2	0	1	0	2	0	3	1	2	1	2	5	2	4	2	5	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr13:29599100C>T	ENST00000431530.3	+	1	353	c.295C>T	c.(295-297)Cag>Tag	p.Q99*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	89						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAAGGCTCTCAGGCTGGCTC	0.463													7	25					0	0	0	0	T	29599100	C	T	29599100	4	4	507	1	0	0	0	0	0	1	0	0	10036	827	29	2	297	2	MTUS2	13	29599100	Nonsense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08		29599100	85570778	63	97975											
BRCA2	675	broad.mit.edu	37	chr13	32972827	32972827	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtactacatctctgatcaaaGaacaggagagttcccaggcc	13	8	9	11	0	2	3	1	1	1	2	4	4	3	3	2	2	3	2	2	2	4	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr13:32972827G>C	ENST00000544455.1	+	27	10404	c.10177G>C	c.(10177-10179)Gaa>Caa	p.E3393Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E3393Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3393					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTGATCAAAGAACAGGAGAG	0.388			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			18	76					0	0	0	0	C	32972827	G	C	32972827	3	2	507	1	0	0	0	0	1	0	0	0	1507	943	33	2	10279	2	BRCA2	13	32972827	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	3373727	32972827	82197051	64	97976											
COL4A2	1284	broad.mit.edu	37	chr13	111145581	111145581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggactccgtgggatcCgcggcttacacggcttgcca	5	9	13	14	5	0	0	0	0	0	0	3	2	3	2	4	4	2	2	4	4	1	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr13:111145581C>T	ENST00000360467.5	+	39	3892	c.3586C>T	c.(3586-3588)Cgc>Tgc	p.R1196C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1196	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCGTGGGATCCGCGGCTTACA	0.607													5	109					0	0	0	0	T	111145581	C	T	111145581	3	4	507	1	0	0	0	0	1	0	0	0	3720	652	23	1	3736	1	COL4A2	13	111145581	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	78172754	111145581	4024297	65	97977											
SPTBN5	51332	broad.mit.edu	37	chr15	42143085	42143085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggctcgccaccagctctCagcctgctcttcggacggtg	5	8	12	16	3	2	0	1	0	2	0	5	1	2	1	3	3	3	3	3	3	0	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr15:42143085C>T	ENST00000320955.6	-	66	11115	c.10888G>A	c.(10888-10890)Gag>Aag	p.E3630K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3630	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACCAGCTCTCAGCCTGCTCT	0.667													4	2					0	0	0	0	T	42143085	C	T	42143085	3	4	507	1	0	0	0	0	1	0	0	0	15212	835	29	2	148	2	SPTBN5	15	42143085	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08		42143085	60388307	66	97978											
NLRC3	197358	broad.mit.edu	37	chr16	3614884	3614884	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagggccccagcggggCatccggtgtcctatccaggg	5	6	16	14	2	0	0	0	0	0	0	3	0	3	0	5	5	2	3	5	5	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:3614884C>T	ENST00000301749.7	-	0	559				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAGCGGGGCATCCGGTGTC	0.672													13	27					0	0	0	0	T	3614884	C	T	3614884	1	4	507	0	1	0	0	0	0	0	0	0	10538	710	25	4		4	NLRC3	16	3614884	RNA	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08		3614884	86739869	67	97979											
ARHGAP17	55114	broad.mit.edu	37	chr16	24988567	24988567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcatcggtgccatgctggCcctggaaacatgccaccaag	9	6	12	14	2	0	0	0	0	0	0	1	1	0	1	4	4	4	2	4	4	2	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:24988567C>A	ENST00000289968.6	-	3	236	c.167G>T	c.(166-168)gGc>gTc	p.G56V	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G56V|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.G56V|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	56	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCCATGCTGGCCCTGGAAACA	0.542													16	46					5.3912e-06	5.52059e-06	1	0	A	24988567	C	A	24988567	3	1	507	1	0	0	0	0	1	0	0	0	869	739	26	4	2550	4	ARHGAP17	16	24988567	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	21373683	24988567	65366186	68	97980											
ABCC12	94160	broad.mit.edu	37	chr16	48139103	48139103	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcagtgtggtcttggTgaagacgaagcctttggtga	8	12	14	7	1	2	3	1	2	1	1	2	4	2	3	2	3	2	0	2	3	2	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:48139103T>A	ENST00000311303.3	-	19	2965	c.2620A>T	c.(2620-2622)Acc>Tcc	p.T874S	ABCC12_ENST00000448542.1_Missense_Mutation_p.T871S|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	874	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTGGTCTTGGTGAAGACGAAG	0.527													33	129					0	0	0	0	A	48139103	T	A	48139103	3	1	507	1	0	0	0	0	1	0	0	0	52	1696	59	5	1503	5	ABCC12	16	48139103	Missense_Mutation	SNP	T	TCGA-UF-A7JV-01A-11D-A34J-08	23150536	48139103	42215650	69	97981											
CCDC135	84229	broad.mit.edu	37	chr16	57758618	57758618	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgatgaagcgggaggaGacacccaggacaatgacaga	14	3	15	9	1	0	5	0	3	0	2	0	8	0	7	2	4	1	0	2	4	2	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:57758618G>C	ENST00000360716.3	+	13	1850	c.1629G>C	c.(1627-1629)gaG>gaC	p.E543D	CCDC135_ENST00000394337.4_Missense_Mutation_p.E543D|CCDC135_ENST00000336825.8_Missense_Mutation_p.E478D			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	543						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGCGGGAGGAGACACCCAGGA	0.557													10	34					0	0	0	0	C	57758618	G	C	57758618	3	2	507	1	0	0	0	0	1	0	0	0	2794	933	33	2	1671	2	CCDC135	16	57758618	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	9619515	57758618	32596135	70	97982											
COG8	84342	broad.mit.edu	37	chr16	69370549	69370549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttccaaaatttctgtgtgCcggtttagggtcaggctatt	8	16	10	7	1	2	0	1	0	1	0	3	0	3	0	2	3	1	2	2	3	4	6			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:69370549C>T	ENST00000306875.4	-	2	558	c.444G>A	c.(442-444)cgG>cgA	p.R148R	RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Silent_p.R23R|COG8_ENST00000562081.1_Silent_p.R148R	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	148					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TTTCTGTGTGCCGGTTTAGGG	0.478													4	114					0	0	0	0	T	69370549	C	T	69370549	2	4	507	1	0	0	0	0	0	0	0	1	3694	726	26	4		4	COG8	16	69370549	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	11611931	69370549	20984204	71	97983											
TAF1C	9013	broad.mit.edu	37	chr16	84212717	84212717	+	Frame_Shift_Del	DEL	T	T	-																															ggccatgtagtcacggagcaTctgccgctgctctgatggga																										TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:84212717delT	ENST00000567759.1	-	14	2622	c.2440delA	c.(2440-2442)tgfs	p.M814fs	TAF1C_ENST00000570117.1_Frame_Shift_Del_p.M482fs|TAF1C_ENST00000378541.4_Frame_Shift_Del_p.M814fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.M721fs|TAF1C_ENST00000341690.6_Frame_Shift_Del_p.M720fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.M788fs	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	814					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCACGGAGCATCTGCCGCTGC	0.692													11	26	---	---	---	---					-	84212717	T	-	84212717	7	5	507	1	0	1	0	1	0	0	0	0	15612	1435	50	0	173	0	TAF1C	16	84212717	Frame_Shift_Del	DEL	T	TCGA-UF-A7JV-01A-11D-A34J-08	14842168	84212717	6142036	72	97984											
OR1D2	4991	broad.mit.edu	37	chr17	2995883	2995883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatacagagcttagggctCatggctgtggtgtagtggag	10	10	16	5	0	1	2	1	0	0	2	1	3	1	3	0	4	2	4	0	4	4	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr17:2995883C>G	ENST00000331459.1	-	1	407	c.408G>C	c.(406-408)atG>atC	p.M136I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	136					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCTTAGGGCTCATGGCTGTGG	0.552													35	74					0	0	0	0	G	2995883	C	G	2995883	3	3	507	1	0	0	0	0	1	0	0	0	11024	826	29	2	533	2	OR1D2	17	2995883	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08		2995883	78199327	73	97985											
DNAH2	146754	broad.mit.edu	37	chr17	7699805	7699805	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccagatcatccgcatattCggcaccatgatcaatcagaa	13	9	6	13	2	3	3	3	1	0	2	6	3	5	3	3	1	0	2	3	1	3	2	rs148588175	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr17:7699805C>T	ENST00000572933.1	+	50	9158	c.7698C>T	c.(7696-7698)ttC>ttT	p.F2566F	DNAH2_ENST00000389173.2_Silent_p.F2566F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2566	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCGCATATTCGGCACCATGA	0.542													16	54					0	0	0	0	T	7699805	C	T	7699805	2	4	507	1	0	0	0	0	0	0	0	1	4639	883	31	1		1	DNAH2	17	7699805	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	4703922	7699805	73495405	74	97986											
RAB34	83871	broad.mit.edu	37	chr17	27042131	27042131	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctccatcagcgcatactGagcaggggtctgagggaagg	9	9	14	9	1	3	2	1	2	2	0	4	3	3	3	1	4	3	2	1	4	2	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr17:27042131G>A	ENST00000395245.3	-	8	1149	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	RAB34_ENST00000395242.2_Nonsense_Mutation_p.Q176*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.Q153*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.Q167*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.Q167*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.Q233*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.Q175*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.Q232*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.Q175*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	175					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AGCGCATACTGAGCAGGGGTC	0.582													21	80					0	0	0	0	A	27042131	G	A	27042131	4	1	507	1	0	0	0	0	0	1	0	0	13006	1299	45	2	332	2	RAB34	17	27042131	Nonsense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	19342326	27042131	54153079	75	97987											
CD300LF	146722	broad.mit.edu	37	chr17	72691256	72691256	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaggcctgctgatggtgctGtattccgtgggctcctcagg	5	12	14	10	1	1	1	1	1	0	0	3	1	3	1	3	4	2	4	3	4	2	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr17:72691256G>T	ENST00000326165.6	-	7	963	c.852C>A	c.(850-852)taC>taA	p.Y284*	CD300LF_ENST00000469092.1_3'UTR|CD300LF_ENST00000343125.4_3'UTR|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000583937.1_Nonsense_Mutation_p.Y299*|CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.Y287*|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	284						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGATGGTGCTGTATTCCGTGG	0.637													8	49					0.00307968	0.00307968	1	0	T	72691256	G	T	72691256	4	4	507	1	0	0	0	0	0	1	0	0	3030	1372	48	4	24	4	CD300LF	17	72691256	Nonsense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	45649125	72691256	8503954	76	97988											
SS18	6760	broad.mit.edu	37	chr18	23619391	23619391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtggcatattgtattgctGagaaggaggctgctgatgca	9	12	14	6	0	0	2	0	2	0	1	0	4	0	3	0	3	3	6	0	3	3	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr18:23619391G>C	ENST00000415083.2	-	6	692	c.637C>G	c.(637-639)Cag>Gag	p.Q213E	SS18_ENST00000545952.1_Missense_Mutation_p.Q161E|SS18_ENST00000542743.1_Missense_Mutation_p.Q161E|SS18_ENST00000542420.2_Missense_Mutation_p.Q190E|SS18_ENST00000539849.1_Missense_Mutation_p.Q131E|SS18_ENST00000269137.7_Missense_Mutation_p.Q213E|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	213	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.Q213E(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTGTATTGCTGAGAAGGAGGC	0.408			T	"SSX1,  SSX2"	synovial sarcoma								25	115					0	0	0	0	C	23619391	G	C	23619391	3	2	507	1	0	0	0	0	1	0	0	0	15265	1299	45	2	643	2	SS18	18	23619391	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		23619391	54457857	77	97989											
ASXL3	80816	broad.mit.edu	37	chr18	31325299	31325299	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagaaaaccaccccaaaaaGagagtagctaggactgtagg	17	4	11	9	1	0	2	0	0	0	2	0	5	0	3	3	2	2	3	3	2	7	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr18:31325299G>C	ENST00000269197.5	+	12	5487	c.5487G>C	c.(5485-5487)aaG>aaC	p.K1829N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCCCAAAAAGAGAGTAGCTA	0.473													70	215					0	0	0	0	C	31325299	G	C	31325299	3	2	507	1	0	0	0	0	1	0	0	0	1072	933	33	2	5533	2	ASXL3	18	31325299	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	7705908	31325299	46751949	78	97990											
DOT1L	84444	broad.mit.edu	37	chr19	2220106	2220106	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagggttttctctctgcaGaggagcacccccagtcccgt	7	9	10	15	1	2	1	0	0	2	1	4	2	3	2	3	2	2	3	3	2	0	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:2220106G>C	ENST00000398665.3	+	23	2727		c.e23-1			NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase							nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TCTCTCTGCAGAGGAGCACCC	0.622													8	34					0	0	0	0	C	2220106	G	C	2220106	5	2	507	1	0	0	0	0	0	0	1	0	4745	956	33	2	2781	2	DOT1L	19	2220106	Splice_Site	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		2220106	56908877	79	97991											
LONP1	9361	broad.mit.edu	37	chr19	5692088	5692089	+	Frame_Shift_Ins	INS	-	-	AA																															cctgctcgtccgggaaggcgINSatgtcgaagatctcccggta																										TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:5692088_5692089insAA	ENST00000360614.3	-	18	2991_2992	c.2834_2835insTT	c.(2833-2835)agcfs	p.S945fs	LONP1_ENST00000540670.2_Frame_Shift_Ins_p.S749fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.S831fs|LONP1_ENST00000593119.1_Frame_Shift_Ins_p.S881fs|LONP1_ENST00000590729.1_Frame_Shift_Ins_p.S815fs	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	945					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGGGAAGGCGATGTCGAAGAT	0.649													29	149	---	---	---	---					AA	5692089	-	AA	5692088	7	5	507	1	0	1	1	0	0	0	0	0	8956	1048	37	0	48	0	LONP1	19	5692088	Frame_Shift_Ins	INS	-	TCGA-UF-A7JV-01A-11D-A34J-08	3471982	5692088	53436895	80	97992											
C19orf43	79002	broad.mit.edu	37	chr19	12845461	12845461	+	Frame_Shift_Del	DEL	C	C	-																															gaggctccgcccgtctccctCgggcagccattttgtcgcca																										TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:12845461delC	ENST00000242784.4	-	1	128	c.11delG	c.(10-12)cafs	p.R4fs	C19orf43_ENST00000592273.1_Frame_Shift_Del_p.R4fs|C19orf43_ENST00000588213.1_Frame_Shift_Del_p.R4fs	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	4										endometrium(2)|large_intestine(2)	4						CCGTCTCCCTCGGGCAGCCAT	0.751													2	4	---	---	---	---					-	12845461	C	-	12845461	7	5	507	1	0	1	0	1	0	0	0	0	1944	884	31	0	531	0	C19orf43	19	12845461	Frame_Shift_Del	DEL	C	TCGA-UF-A7JV-01A-11D-A34J-08	7153373	12845461	46283522	81	97993											
ZNF208	7757	broad.mit.edu	37	chr19	22157019	22157019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaattatcttatgtttagTaaggattgcagattggttaa	13	17	9	2	0	1	2	0	1	1	1	1	3	1	3	0	2	1	4	0	2	6	8			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:22157019T>A	ENST00000397126.4	-	4	965	c.817A>T	c.(817-819)Act>Tct	p.T273S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTATGTTTAGTAAGGATTGCA	0.358													18	74					0	0	0	0	A	22157019	T	A	22157019	3	1	507	1	0	0	0	0	1	0	0	0	17861	1638	57	5	3029	5	ZNF208	19	22157019	Missense_Mutation	SNP	T	TCGA-UF-A7JV-01A-11D-A34J-08	9311558	22157019	36971964	82	97994											
ZNF91	7644	broad.mit.edu	37	chr19	23543326	23543326	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtttctctccagtatgaaTtgtcttatgcttagtaaggg	8	16	11	6	0	2	1	0	1	2	0	4	1	3	1	1	2	1	4	1	2	5	6			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:23543326T>C	ENST00000300619.7	-	4	2660	c.2455A>G	c.(2455-2457)Att>Gtt	p.I819V	ZNF91_ENST00000397082.2_Missense_Mutation_p.I787V|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	819						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCAGTATGAATTGTCTTATGC	0.398													28	102					0	0	0	0	C	23543326	T	C	23543326	3	2	507	1	0	0	0	0	1	0	0	0	18293	1493	52	5	1124	5	ZNF91	19	23543326	Missense_Mutation	SNP	T	TCGA-UF-A7JV-01A-11D-A34J-08	1386307	23543326	35585657	83	97995											
ZNF254	9534	broad.mit.edu	37	chr19	24310305	24310305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggcaaatcttttagccaAtcctcaacccttactacaca	12	12	4	13	0	2	0	1	0	1	0	3	0	3	0	3	1	4	1	3	1	6	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:24310305A>G	ENST00000357002.4	+	4	1618	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	ZNF254_ENST00000342944.6_Silent_p.Q416Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	501					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAATCCTCAACCC	0.403													5	139					0	0	0	0	G	24310305	A	G	24310305	2	3	507	1	0	0	0	0	0	0	0	1	17893	98	4	5		5	ZNF254	19	24310305	Silent	SNP	A	TCGA-UF-A7JV-01A-11D-A34J-08	766979	24310305	34818678	84	97996											
ZNF254	9534	broad.mit.edu	37	chr19	24310352	24310352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattcatactggagagaaacCctacaaatgtgaagaatgtg	17	9	9	6	0	1	3	1	1	0	2	1	5	1	4	1	1	3	0	1	1	7	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:24310352C>G	ENST00000357002.4	+	4	1665	c.1550C>G	c.(1549-1551)cCc>cGc	p.P517R	ZNF254_ENST00000342944.6_Missense_Mutation_p.P432R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	517					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGAGAGAAACCCTACAAATGT	0.368													5	160					0	0	0	0	G	24310352	C	G	24310352	3	3	507	1	0	0	0	0	1	0	0	0	17893	623	22	4	1564	4	ZNF254	19	24310352	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	47	24310352	34818631	85	97997											
PPFIA3	8541	broad.mit.edu	37	chr19	49631663	49631663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagctgaacttatgtcggGagcagctgctggagagggag	10	7	18	6	1	0	2	0	1	0	1	1	6	0	5	0	4	5	4	0	4	2	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:49631663G>A	ENST00000334186.4	+	3	629	c.280G>A	c.(280-282)Gag>Aag	p.E94K	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E94K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	94						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTTATGTCGGGAGCAGCTGCT	0.582													15	82					0	0	0	0	A	49631663	G	A	49631663	3	1	507	1	0	0	0	0	1	0	0	0	12382	1175	41	2	286	2	PPFIA3	19	49631663	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	25321311	49631663	9497320	86	97998											
ZNF845	91664	broad.mit.edu	37	chr19	53854494	53854494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggcctaaaacccacatttCtaagaactatgggaataatt	16	11	6	8	0	1	1	0	0	1	1	1	2	1	2	2	2	2	0	2	2	8	7	rs138639565	by1000genomes	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:53854494C>G	ENST00000458035.1	+	4	683	c.566C>G	c.(565-567)tCt>tGt	p.S189C	ZNF845_ENST00000595091.1_Missense_Mutation_p.S189C	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCCACATTTCTAAGAACTAT	0.368													44	147					0	0	0	0	G	53854494	C	G	53854494	3	3	507	1	0	0	0	0	1	0	0	0	18284	913	32	2	576	2	ZNF845	19	53854494	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	4222831	53854494	5274489	87	97999											
TTYH1	57348	broad.mit.edu	37	chr19	54930406	54930406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgccggccccccgagccCcccgggtccaagatcccctc	4	5	10	22	3	0	1	0	0	0	1	3	2	2	1	10	2	3	1	10	2	1	0	rs148537788		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:54930406C>T	ENST00000301194.4	+	2	353	c.231C>T	c.(229-231)ccC>ccT	p.P77P	TTYH1_ENST00000376530.3_Silent_p.P77P|TTYH1_ENST00000376531.3_Silent_p.P77P|TTYH1_ENST00000391739.3_Silent_p.P126P			Q9H313	TTYH1_HUMAN	tweety family member 1	77					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCCCCGAGCCCCCCGGGTCCA	0.697													16	47					0	0	0	0	T	54930406	C	T	54930406	2	4	507	1	0	0	0	0	0	0	0	1	16835	610	22	4		4	TTYH1	19	54930406	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	1075912	54930406	4198577	88	98000											
U2AF2	11338	broad.mit.edu	37	chr19	56180837	56180837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcagacgcctgtgaccCtgcaagtgccgggcttgatg	8	9	12	12	2	2	3	2	2	0	1	2	3	2	3	3	1	2	2	3	1	2	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:56180837C>T	ENST00000450554.2	+	11	2019	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	U2AF2_ENST00000590551.1_Silent_p.L190L|U2AF2_ENST00000308924.4_Silent_p.L358L|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	358					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCCTGTGACCCTGCAAGTGCC	0.657													10	41					0	0	0	0	T	56180837	C	T	56180837	2	4	507	1	0	0	0	0	0	0	0	1	16919	680	24	4		4	U2AF2	19	56180837	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	1250431	56180837	2948146	89	98001											
LRRN4	164312	broad.mit.edu	37	chr20	6032876	6032876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcgaacgccgcctcggcGatgcccccctgggctccgcg	4	4	13	20	7	0	0	0	0	0	0	2	2	1	0	7	2	3	1	7	2	1	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:6032876G>A	ENST00000378858.4	-	2	794	c.570C>T	c.(568-570)atC>atT	p.I190I		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	190						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCCTCGGCGATGCCCCCCT	0.731													6	10					0	0	0	0	A	6032876	G	A	6032876	2	1	507	1	0	0	0	0	0	0	0	1	9101	1048	37	1		1	LRRN4	20	6032876	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		6032876	56992644	90	98002											
SLC12A5	57468	broad.mit.edu	37	chr20	44683556	44683556	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctgtctgcccacagcAtgagagcgacatctcagctt	10	9	8	14	1	3	1	1	1	3	1	4	3	3	1	2	0	5	2	2	0	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:44683556A>G	ENST00000454036.1	+	21	2826	c.2748_splice	c.e21-1	p.H917_splice	SLC12A5_ENST00000243964.3_Splice_Site_p.H894_splice	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	917					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCCCACAGCATGAGAGCGAC	0.547													23	27					0	0	0	0	G	44683556	A	G	44683556	5	3	507	1	0	0	0	0	0	0	1	0	14474	231	8	5	2888	5	SLC12A5	20	44683556	Splice_Site	SNP	A	TCGA-UF-A7JV-01A-11D-A34J-08	38650680	44683556	18341964	91	98003											
HRH3	11255	broad.mit.edu	37	chr20	60791962	60791962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcccgccgcgtgtcaccCtgctgggcccggtatgagac	5	7	13	16	4	1	1	1	1	0	1	1	2	1	1	4	2	2	2	4	2	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:60791962C>T	ENST00000340177.5	-	3	722	c.438G>A	c.(436-438)caG>caA	p.Q146Q	HRH3_ENST00000317393.6_Silent_p.Q146Q	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	146					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GCGTGTCACCCTGCTGGGCCC	0.677													22	27					0	0	0	0	T	60791962	C	T	60791962	2	4	507	1	0	0	0	0	0	0	0	1	7407	680	24	4		4	HRH3	20	60791962	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	16108406	60791962	2233558	92	98004											
COL20A1	57642	broad.mit.edu	37	chr20	61943054	61943054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctcggtgcagagcctGcgaggccctgagggcagcga	7	5	18	11	3	1	2	0	1	1	1	2	5	1	2	2	4	4	2	2	4	0	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:61943054G>A	ENST00000422202.1	+	12	1706	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	COL20A1_ENST00000358894.6_Silent_p.L539L|COL20A1_ENST00000326996.6_Silent_p.L539L|COL20A1_ENST00000435874.1_Silent_p.L546L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	539	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCAGAGCCTGCGAGGCCCTG	0.697													11	13					0	0	0	0	A	61943054	G	A	61943054	2	1	507	1	0	0	0	0	0	0	0	1	3709	1306	46	4		4	COL20A1	20	61943054	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	1151092	61943054	1082466	93	98005											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328212	62328212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggctgtacgcggagtggCagaaacacccacctacccct	9	5	11	16	3	0	1	0	0	0	1	0	2	0	2	5	3	3	3	5	3	3	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:62328212C>T	ENST00000369996.1	+	1	192	c.92C>T	c.(91-93)gCa>gTa	p.A31V	RTEL1_ENST00000318100.4_Silent_p.G1333G|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.G1333G	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	31					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGCGGAGTGGCAGAAACACCC	0.716													4	20					0	0	0	0	T	62328212	C	T	62328212	3	4	507	1	0	0	0	0	1	0	0	0	16392	710	25	4	94	4	TNFRSF6B	20	62328212	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	385158	62328212	697308	94	98006											
MRAP	56246	broad.mit.edu	37	chr21	33671366	33671366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctcattcccgtggacgaGaagaagctgaaagcccacaa	14	5	10	12	2	1	3	1	1	0	2	2	6	2	4	3	1	2	1	3	1	4	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr21:33671366G>A	ENST00000399784.2	+	3	271	c.84G>A	c.(82-84)gaG>gaA	p.E28E	MRAP_ENST00000339944.4_Silent_p.E28E|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000303645.5_Silent_p.E28E|MRAP_ENST00000399786.3_Silent_p.E28E	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	28					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			endometrium(1)|large_intestine(2)|lung(3)	6						CCGTGGACGAGAAGAAGCTGA	0.577													5	38					0	0	0	0	A	33671366	G	A	33671366	2	1	507	1	0	0	0	0	0	0	0	1	9823	933	33	2		2	MRAP	21	33671366	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		33671366	14458529	95	98007											
RFPL3	10738	broad.mit.edu	37	chr22	32754256	32754256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcaagtgcatcaattcGctgcagaaggagccccatgg	10	8	11	12	1	2	1	2	0	0	1	3	2	2	2	3	2	4	3	3	2	3	1	rs61729170	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3_ENST00000397468.1_Silent_p.S37S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537													4	134					0	0	0	0	A	32754256	G	A	32754256	2	1	507	1	0	0	0	0	0	0	0	1	13337	1074	38	1		1	RFPL3	22	32754256	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		32754256	18550310	96	98008											
TRIOBP	11078	broad.mit.edu	37	chr22	38120199	38120199	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccaatagagctgcaCgagacaaccccacaacatcc	13	5	5	18	1	1	2	0	0	1	2	3	3	2	2	5	0	4	2	5	0	4	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:38120199C>T	ENST00000406386.3	+	7	1891	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	546					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TAGAGCTGCACGAGACAACCC	0.587													6	378					0	0	0	0	T	38120199	C	T	38120199	4	4	507	1	0	0	0	0	0	1	0	0	16648	528	19	1	1654	1	TRIOBP	22	38120199	Nonsense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	5365943	38120199	13184367	97	98009											
TRIOBP	11078	broad.mit.edu	37	chr22	38120745	38120745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacatcctgtgcccgacggGacaatcccagagcctcctct	9	7	9	16	2	1	1	0	0	1	1	4	4	4	2	5	1	3	0	5	1	2	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:38120745G>T	ENST00000406386.3	+	7	2437	c.2182G>T	c.(2182-2184)Gac>Tac	p.D728Y	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	728					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCCCGACGGGACAATCCCAG	0.587													26	108					4.87955e-14	5.20486e-14	1	0	T	38120745	G	T	38120745	3	4	507	1	0	0	0	0	1	0	0	0	16648	1174	41	2	2200	2	TRIOBP	22	38120745	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	546	38120745	13183821	98	98010											
ENTHD1	150350	broad.mit.edu	37	chr22	40139838	40139838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtaatctagcgatcgcaCgttttacctcccttaaaaga	12	12	6	11	3	1	1	0	0	1	1	3	2	2	1	2	0	2	3	2	0	5	5			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:40139838C>T	ENST00000325157.6	-	7	1920	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	557										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGCGATCGCACGTTTTACCTC	0.403													17	65					0	0	0	0	T	40139838	C	T	40139838	3	4	507	1	0	0	0	0	1	0	0	0	5175	536	19	1	157	1	ENTHD1	22	40139838	Missense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	2019093	40139838	11164728	99	98011											
GRAP2	9402	broad.mit.edu	37	chr22	40364245	40364245	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcagcccccacagcAgcgatatctgcagcaccacc	10	4	9	18	1	1	0	0	0	1	0	1	1	1	0	4	0	7	6	4	0	1	1			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:40364245A>T	ENST00000344138.4	+	6	922	c.659A>T	c.(658-660)cAg>cTg	p.Q220L	GRAP2_ENST00000540310.1_Missense_Mutation_p.Q154L|GRAP2_ENST00000544756.1_Missense_Mutation_p.Q148L|GRAP2_ENST00000407075.3_Missense_Mutation_p.Q220L|GRAP2_ENST00000399090.2_Missense_Mutation_p.Q107L|GRAP2_ENST00000543252.1_Missense_Mutation_p.Q180L	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	220					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						cccccacagcagcgatatctg	0.642													7	37					0	0	0	0	T	40364245	A	T	40364245	3	4	507	1	0	0	0	0	1	0	0	0	6804	188	7	5	677	5	GRAP2	22	40364245	Missense_Mutation	SNP	A	TCGA-UF-A7JV-01A-11D-A34J-08	224407	40364245	10940321	100	98012											
CCNB3	85417	broad.mit.edu	37	chrX	50052279	50052279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggagtcgttagcctttaaGaagaagcctagcactgagga	14	8	12	7	1	0	3	0	1	0	2	1	5	0	5	2	2	3	2	2	2	6	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:50052279G>A	ENST00000376042.1	+	6	1408	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	CCNB3_ENST00000276014.7_Silent_p.K370K|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	370					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAGCCTTTAAGAAGAAGCCTA	0.458													18	70					0	0	0	0	A	50052279	G	A	50052279	2	1	507	1	0	0	0	0	0	0	0	1	2943	933	33	2		2	CCNB3	23	50052279	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08		50052279	105218281	101	98013											
ACRC	93953	broad.mit.edu	37	chrX	70823900	70823900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggaagctcccgacgacaGcagtgatgattcggaagctc	10	8	12	11	4	0	2	0	2	0	0	4	6	1	4	1	2	3	3	1	2	2	2			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557													7	255					0	0	0	0	A	70823900	G	A	70823900	3	1	507	1	0	0	0	0	1	0	0	0	171	971	34	4	799	4	ACRC	23	70823900	Missense_Mutation	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	20771621	70823900	84446660	102	98014											
MUM1L1	139221	broad.mit.edu	37	chrX	105451255	105451255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcagttggatgaagtggtGaaatatttacaagaagtctg	14	12	12	3	0	2	3	1	2	1	1	2	5	2	4	0	2	1	1	0	2	6	4			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:105451255G>A	ENST00000337685.2	+	5	2615	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	MUM1L1_ENST00000372552.1_Silent_p.V610V|MUM1L1_ENST00000357175.2_Silent_p.V610V	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	610										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGAAGTGGTGAAATATTTAC	0.333													9	32					0	0	0	0	A	105451255	G	A	105451255	2	1	507	1	0	0	0	0	0	0	0	1	10056	1277	45	2		2	MUM1L1	23	105451255	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	34627355	105451255	49819305	103	98015											
SAGE1	55511	broad.mit.edu	37	chrX	134993810	134993810	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcctgatggcttcctgtCaaattctgattcaccagagc	8	12	7	14	0	3	3	2	2	1	1	5	3	5	3	4	1	1	1	4	1	1	3			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:134993810C>G	ENST00000535938.1	+	18	2386	c.2219C>G	c.(2218-2220)tCa>tGa	p.S740*	SAGE1_ENST00000324447.3_Nonsense_Mutation_p.S740*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.S740*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.S364*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	740										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGCTTCCTGTCAAATTCTGAT	0.423													66	240					0	0	0	0	G	134993810	C	G	134993810	4	3	507	1	0	0	0	0	0	1	0	0	13894	838	29	2	2285	2	SAGE1	23	134993810	Nonsense_Mutation	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	29542555	134993810	20276750	104	98016											
SLITRK2	84631	broad.mit.edu	37	chrX	144906469	144906469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaaaaacaaactgcaatCagtcagctgtgaagggaaat	17	7	10	7	0	2	1	2	1	0	0	2	3	2	3	0	2	4	2	0	2	6	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:144906469C>T	ENST00000370490.1	+	1	6781	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	SLITRK2_ENST00000413937.2_Silent_p.I842I|SLITRK2_ENST00000434188.2_Silent_p.I842I|SLITRK2_ENST00000428560.2_Silent_p.I842I|SLITRK2_ENST00000447897.2_Silent_p.I842I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	842						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTGCAATCAGTCAGCTGT	0.448													30	79					0	0	0	0	T	144906469	C	T	144906469	2	4	507	1	0	0	0	0	0	0	0	1	14831	816	29	2		2	SLITRK2	23	144906469	Silent	SNP	C	TCGA-UF-A7JV-01A-11D-A34J-08	9912659	144906469	10364091	105	98017											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													5	155					0	0	0	0	A	150156360	G	A	150156360	2	1	507	1	0	0	0	0	0	0	0	1	7277	991	35	4		4	HMGB3	23	150156360	Silent	SNP	G	TCGA-UF-A7JV-01A-11D-A34J-08	5249891	150156360	5114200	106	98018											
ANKRD35	148741	broad.mit.edu	37	chr1	145561861	145561861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggggctttgtcaagaccgGtcatggagggagccctgggg	6	7	20	8	1	2	1	2	0	0	1	2	3	2	3	2	8	1	1	2	8	1	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:145561861G>T	ENST00000355594.4	+	10	1636	c.1549G>T	c.(1549-1551)Gtc>Ttc	p.V517F		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	517										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCAAGACCGGTCATGGAGGG	0.632													62	116					1.02487e-32	1.11172e-32	1	0	T	145561861	G	T	145561861	3	4	508	1	0	0	0	0	1	0	0	0	663	1261	44	4	1587	4	ANKRD35	1	145561861	Missense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08		145561861	103688760	1	98019											
RYR2	6262	broad.mit.edu	37	chr1	237580424	237580424	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagacgctaagagttgcGtaagtagaacttctaaacac	15	9	9	8	2	1	3	0	0	1	3	1	4	1	3	0	0	3	4	0	0	7	7			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:237580424G>A	ENST00000366574.2	+	11	1165		c.e11+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGAGTTGCGTAAGTAGAAC	0.448													11	27					0	0	0	0	A	237580424	G	A	237580424	5	1	508	1	0	0	0	0	0	0	1	0	13854	1159	40	1	891	1	RYR2	1	237580424	Splice_Site	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	92018563	237580424	11670197	2	98020											
OR6F1	343169	broad.mit.edu	37	chr1	247875657	247875657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagcaggctactcatgatgGctccgtagtgtaaaggatag	12	9	13	7	1	1	2	1	1	0	1	2	3	2	3	1	3	2	5	1	3	5	4	rs142323720		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:247875657G>A	ENST00000302084.2	-	1	448	c.401C>T	c.(400-402)gCc>gTc	p.A134V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A134G(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACTCATGATGGCTCCGTAGTG	0.557													44	51					0	0	0	0	A	247875657	G	A	247875657	3	1	508	1	0	0	0	0	1	0	0	0	11272	1203	42	4	529	4	OR6F1	1	247875657	Missense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	10295233	247875657	1374964	3	98021											
OR2L2	26246	broad.mit.edu	37	chr1	248202348	248202348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttatacctatgtacGtccaagatccctgcgatctc	8	14	6	13	2	1	1	0	0	1	1	4	2	3	1	3	0	4	2	3	0	5	5	rs138166879		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:248202348G>A	ENST00000366479.2	+	1	875	c.779G>A	c.(778-780)cGt>cAt	p.R260H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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)			ACCTATGTACGTCCAAGATCC	0.493													48	61					0	0	0	0	A	248202348	G	A	248202348	3	1	508	1	0	0	0	0	1	0	0	0	11078	1145	40	1	781	1	OR2L2	1	248202348	Missense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	326691	248202348	1048273	4	98022											
LONRF2	164832	broad.mit.edu	37	chr2	100906852	100906852	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaacgttctcacgtccttAatctccagcatgcatccata	11	11	6	13	2	2	0	1	0	2	0	6	1	4	1	3	1	3	3	3	1	3	3			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:100906852A>C	ENST00000393437.3	-	10	2427	c.1788T>G	c.(1786-1788)atT>atG	p.I596M	LONRF2_ENST00000409647.1_Missense_Mutation_p.I353M	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	596	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCACGTCCTTAATCTCCAGCA	0.468													38	62					0	0	0	0	C	100906852	A	C	100906852	3	2	508	1	0	0	0	0	1	0	0	0	8959	358	13	5	488	5	LONRF2	2	100906852	Missense_Mutation	SNP	A	TCGA-UP-A6WW-01A-12D-A34J-08		100906852	142292521	5	98023											
CCDC93	54520	broad.mit.edu	37	chr2	118771546	118771546	+	Frame_Shift_Del	DEL	C	C	-																															ttacctccgggagaccctggCcctccggccccctgggcaac																										TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:118771546delC	ENST00000376300.2	-	1	163	c.26delG	c.(25-27)gcfs	p.G9fs	CCDC93_ENST00000319432.5_Frame_Shift_Del_p.G9fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	9										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGACCCTGGCCCTCCGGCCC	0.716													2	4	---	---	---	---					-	118771546	C	-	118771546	7	5	508	1	0	1	0	1	0	0	0	0	2899	739	26	0	1965	0	CCDC93	2	118771546	Frame_Shift_Del	DEL	C	TCGA-UP-A6WW-01A-12D-A34J-08	17864694	118771546	124427827	6	98024											
PLEKHB2	55041	broad.mit.edu	37	chr2	132110683	132110684	+	Frame_Shift_Del	DEL	TC	TC	-																															gatgtttttttcccagcgaaTctccgataagaaggtctgtg																										TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:132110683_132110684delTC	ENST00000404460.1	+	7	568_569	c.514_515delTC	c.(514-516)tfs	p.S172fs	PLEKHB2_ENST00000303908.3_Frame_Shift_Del_p.S172fs			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	0				Y -> H (in Ref. 1; BAA91379).		membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TCCCAGCGAATCTCCGATAAGA	0.495													18	18	---	---	---	---					-	132110684	TC	-	132110683	7	5	508	1	0	1	0	1	0	0	0	0	12137	1450	50	0		0	PLEKHB2	2	132110683	Frame_Shift_Del	DEL	TC	TCGA-UP-A6WW-01A-12D-A34J-08	13339137	132110683	111088690	7	98025											
FBLN2	2199	broad.mit.edu	37	chr3	13672897	13672897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcaacgtgccagggagcTaccagtgtgcatgccctgag	8	8	13	12	1	1	1	1	1	1	0	2	2	1	2	3	1	6	2	3	1	2	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:13672897T>C	ENST00000404922.3	+	16	3273	c.3154T>C	c.(3154-3156)Tac>Cac	p.Y1052H	FBLN2_ENST00000535798.1_Missense_Mutation_p.Y1031H|FBLN2_ENST00000295760.7_Missense_Mutation_p.Y1005H|FBLN2_ENST00000492059.1_Missense_Mutation_p.Y1052H	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1033	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCAGGGAGCTACCAGTGTGC	0.642													6	10					0	0	0	0	C	13672897	T	C	13672897	3	2	508	1	0	0	0	0	1	0	0	0	5744	1522	53	5	1902	5	FBLN2	3	13672897	Missense_Mutation	SNP	T	TCGA-UP-A6WW-01A-12D-A34J-08		13672897	184349533	8	98026											
SCN5A	6331	broad.mit.edu	37	chr3	38648250	38648250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgaagctggtgtagccGtggtcggggttctcgcctgc	5	10	16	10	4	1	0	0	0	1	0	4	2	1	0	2	4	3	3	2	4	3	2			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:38648250G>A	ENST00000413689.1	-	9	1243	c.1050C>T	c.(1048-1050)caC>caT	p.H350H	SCN5A_ENST00000425664.1_Silent_p.H350H|SCN5A_ENST00000414099.2_Silent_p.H350H|SCN5A_ENST00000333535.4_Silent_p.H350H|SCN5A_ENST00000450102.2_Silent_p.H350H|SCN5A_ENST00000449557.2_Silent_p.H350H|SCN5A_ENST00000451551.2_Silent_p.H350H|SCN5A_ENST00000443581.1_Silent_p.H350H|SCN5A_ENST00000455624.2_Silent_p.H350H|SCN5A_ENST00000423572.2_Silent_p.H350H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	350					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGTGTAGCCGTGGTCGGGGT	0.602													30	45					0	0	0	0	A	38648250	G	A	38648250	2	1	508	1	0	0	0	0	0	0	0	1	14009	1136	40	1		1	SCN5A	3	38648250	Silent	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	24975353	38648250	159374180	9	98027											
ZNF197	10168	broad.mit.edu	37	chr3	44683476	44683476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcataaaggaacatcaaAaagacttcaaggaagtgttc	17	9	7	8	0	3	1	3	0	1	1	5	3	3	3	0	2	1	1	0	2	7	3			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:44683476A>G	ENST00000396058.1	+	5	1021	c.854A>G	c.(853-855)aAa>aGa	p.K285R	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.K285R|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	285	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGAACATCAAAAAGACTTCAA	0.428													15	19					0	0	0	0	G	44683476	A	G	44683476	3	3	508	1	0	0	0	0	1	0	0	0	17854	14	1	5	872	5	ZNF197	3	44683476	Missense_Mutation	SNP	A	TCGA-UP-A6WW-01A-12D-A34J-08	6035226	44683476	153338954	10	98028											
KIF15	56992	broad.mit.edu	37	chr3	44881850	44881850	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttcaattttcccagctaAaccaaaagaaagaggaagta	17	9	7	8	0	1	2	1	0	0	2	2	3	2	3	2	1	2	3	2	1	8	5			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:44881850A>T	ENST00000326047.4	+	28	3471	c.3322A>T	c.(3322-3324)Aac>Tac	p.N1108Y	KIF15_ENST00000425755.1_Missense_Mutation_p.N743Y	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1108					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCCCAGCTAAACCAAAAGAA	0.388													23	27					0	0	0	0	T	44881850	A	T	44881850	3	4	508	1	0	0	0	0	1	0	0	0	8328	14	1	5	3432	5	KIF15	3	44881850	Missense_Mutation	SNP	A	TCGA-UP-A6WW-01A-12D-A34J-08	198374	44881850	153140580	11	98029											
CCDC51	79714	broad.mit.edu	37	chr3	48474071	48474071	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttggctacaagtctttTctaggccatcaagctgctct	8	14	7	12	0	4	0	1	0	3	0	4	0	4	0	2	2	3	3	2	2	4	5			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:48474071T>A	ENST00000395694.2	-	4	1068	c.983A>T	c.(982-984)gAa>gTa	p.E328V	CCDC51_ENST00000412398.2_Missense_Mutation_p.E219V|CCDC51_ENST00000447018.1_Missense_Mutation_p.E219V|CCDC51_ENST00000442740.1_Missense_Mutation_p.E219V|CCDC51_ENST00000395696.1_Missense_Mutation_p.E328V	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	328						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACAAGTCTTTTCTAGGCCATC	0.517													30	35					0	0	0	0	A	48474071	T	A	48474071	3	1	508	1	0	0	0	0	1	0	0	0	2848	1783	62	5	256	5	CCDC51	3	48474071	Missense_Mutation	SNP	T	TCGA-UP-A6WW-01A-12D-A34J-08	3592221	48474071	149548359	12	98030											
VPRBP	9730	broad.mit.edu	37	chr3	51457789	51457789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaatgggaggcagcagTcatgggcaggtcagcctctt	11	7	15	8	0	3	2	2	0	1	2	3	3	3	3	1	4	2	3	1	4	2	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:51457789T>C	ENST00000335891.5	-	7	1297	c.1288A>G	c.(1288-1290)Act>Gct	p.T430A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	879					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GAGGCAGCAGTCATGGGCAGG	0.512													8	77					0	0	0	0	C	51457789	T	C	51457789	3	2	508	1	0	0	0	0	1	0	0	0	17281	1667	58	5	1932	5	VPRBP	3	51457789	Missense_Mutation	SNP	T	TCGA-UP-A6WW-01A-12D-A34J-08	2983718	51457789	146564641	13	98031											
EPHB1	2047	broad.mit.edu	37	chr3	134911542	134911542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggactttctgagtgaggcGagcatcatgggccagttcga	8	9	15	9	3	2	2	1	2	1	0	3	5	2	3	1	3	1	2	1	3	0	2			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:134911542G>A	ENST00000398015.3	+	11	2377	c.2007G>A	c.(2005-2007)gcG>gcA	p.A669A	EPHB1_ENST00000493838.1_Silent_p.A230A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	669	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGAGTGAGGCGAGCATCATGG	0.547													24	27					0	0	0	0	A	134911542	G	A	134911542	2	1	508	1	0	0	0	0	0	0	0	1	5212	1045	37	1		1	EPHB1	3	134911542	Silent	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	83453753	134911542	63110888	14	98032											
ATP13A4	84239	broad.mit.edu	37	chr3	193125105	193125105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatcagcacacttacctcGgccacaagggacacaatgaa	16	5	8	12	1	1	2	1	1	0	1	2	3	1	3	2	2	2	1	2	2	5	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:193125105G>A	ENST00000342695.4	-	29	3697	c.3375C>T	c.(3373-3375)gcC>gcT	p.A1125A	ATP13A4_ENST00000400270.2_Silent_p.A141A|ATP13A4_ENST00000392443.3_Silent_p.A1106A|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1125					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.A1125A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACTTACCTCGGCCACAAGGG	0.522													16	22					0	0	0	0	A	193125105	G	A	193125105	2	1	508	1	0	0	0	0	0	0	0	1	1130	1103	39	1		1	ATP13A4	3	193125105	Silent	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	58213563	193125105	4897325	15	98033											
CPZ	8532	broad.mit.edu	37	chr4	8620216	8620216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagccagtcaaaaacgccCggatctcagtcaaaggcatt	14	6	9	12	2	3	0	3	0	1	0	4	1	3	1	2	2	2	2	2	2	4	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr4:8620216C>T	ENST00000429646.2	+	8	3181	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CPZ_ENST00000315782.6_Missense_Mutation_p.R511W|CPZ_ENST00000360986.4_Missense_Mutation_p.R522W|CPZ_ENST00000382480.2_Missense_Mutation_p.R385W			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	522	FZ.		Q -> L (in dbSNP:rs35993494).		proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAAAACGCCCGGATCTCAGT	0.592													21	33					0	0	0	0	T	8620216	C	T	8620216	3	4	508	1	0	0	0	0	1	0	0	0	3869	643	23	1	1602	1	CPZ	4	8620216	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08		8620216	182534060	16	98034											
MARCH1	55016	broad.mit.edu	37	chr4	164507013	164507013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggactggtggacaaagCgcagtgtcccagtgcagcga	10	5	16	10	2	0	0	0	0	0	0	1	3	1	2	1	4	3	3	1	4	1	0			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr4:164507013C>T	ENST00000503008.1	-	6	1287	c.311G>A	c.(310-312)cGc>cAc	p.R104H	MARCH1_ENST00000274056.7_Missense_Mutation_p.R104H|MARCH1_ENST00000514618.1_Missense_Mutation_p.R360H|MARCH1_ENST00000339875.5_Missense_Mutation_p.R87H	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	104					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTGGACAAAGCGCAGTGTCCC	0.527													31	38					0	0	0	0	T	164507013	C	T	164507013	3	4	508	1	0	0	0	0	1	0	0	0	9367	768	27	1	570	1	MARCH1	4	164507013	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	155886797	164507013	26647263	17	98035											
ADAMTS19	171019	broad.mit.edu	37	chr5	129070740	129070740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacctgcagcatacaggcCatgccatcttcaaccctgca	13	7	6	15	0	2	0	1	0	1	0	2	0	2	0	4	1	7	3	4	1	4	2			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr5:129070740C>T	ENST00000274487.4	+	22	3555	c.3410C>T	c.(3409-3411)cCa>cTa	p.P1137L	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1137	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCATACAGGCCATGCCATCTT	0.393													29	60					0	0	0	0	T	129070740	C	T	129070740	3	4	508	1	0	0	0	0	1	0	0	0	264	594	21	4	3496	4	ADAMTS19	5	129070740	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08		129070740	51844520	18	98036											
KAAG1	353219	broad.mit.edu	37	chr6	24358006	24358006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggccgccgcctcagctcGctgcttcgcgtcgggaggca	3	7	15	16	6	1	0	1	0	0	0	4	1	1	1	3	3	2	5	3	3	0	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr6:24358006G>A	ENST00000274766.1	+	1	876	c.139G>A	c.(139-141)Gct>Act	p.A47T	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	47					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						GCCTCAGCTCGCTGCTTCGCG	0.672													3	28					0	0	0	0	A	24358006	G	A	24358006	3	1	508	1	0	0	0	0	1	0	0	0	8026	1087	38	1	141	1	KAAG1	6	24358006	Missense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08		24358006	146757061	19	98037											
PMS2	5395	broad.mit.edu	37	chr7	6048644	6048644	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcgagctctcagctcGctccatggatgcaacacccg	8	8	8	17	3	2	0	2	0	1	0	6	2	3	1	3	1	4	4	3	1	1	0			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:6048644G>A	ENST00000265849.7	-	1	112	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PMS2_ENST00000382321.4_Nonsense_Mutation_p.R3*|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Nonsense_Mutation_p.R3*	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	3					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCTCAGCTCGCTCCATGGAT	0.647			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				41	49					0	0	0	0	A	6048644	G	A	6048644	4	1	508	1	0	0	0	0	0	1	0	0	12215	1095	38	1	2641	1	PMS2	7	6048644	Nonsense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08		6048644	153090019	20	98038											
PHF14	9678	broad.mit.edu	37	chr7	11091372	11091372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatttgttccacaggatgtgCcaccagaacccaagaagatt	14	9	8	10	0	0	3	0	0	0	3	1	4	1	4	4	1	2	1	4	1	4	3			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:11091372C>T	ENST00000403050.3	+	14	2898	c.2446C>T	c.(2446-2448)Cca>Tca	p.P816S	PHF14_ENST00000445996.2_Missense_Mutation_p.P531S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	816							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACAGGATGTGCCACCAGAACC	0.403													16	26					0	0	0	0	T	11091372	C	T	11091372	3	4	508	1	0	0	0	0	1	0	0	0	11897	739	26	4	2500	4	PHF14	7	11091372	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	5042728	11091372	148047291	21	98039											
CPVL	54504	broad.mit.edu	37	chr7	29135786	29135786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacatggatgaacctccCggcccaccctgtagccagag	11	5	9	16	1	0	2	0	1	0	1	1	3	1	3	6	2	3	1	6	2	3	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:29135786C>T	ENST00000409850.1	-	8	982	c.336G>A	c.(334-336)ccG>ccA	p.P112P	CPVL_ENST00000396276.3_Silent_p.P112P|CPVL_ENST00000265394.5_Silent_p.P112P|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	112					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGAACCTCCCGGCCCACCCT	0.463													67	114					0	0	0	0	T	29135786	C	T	29135786	2	4	508	1	0	0	0	0	0	0	0	1	3865	639	23	1		1	CPVL	7	29135786	Silent	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	18044414	29135786	130002877	22	98040											
ADCY1	107	broad.mit.edu	37	chr7	45725619	45725619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttccctggtggtcctttCgtctgggggccagcgcacag	4	10	14	13	2	1	0	0	0	1	0	4	0	3	0	3	4	1	2	3	4	0	2			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:45725619C>T	ENST00000297323.7	+	13	2154	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	711					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGGTCCTTTCGTCTGGGGGC	0.657													13	25					0	0	0	0	T	45725619	C	T	45725619	3	4	508	1	0	0	0	0	1	0	0	0	292	893	31	1	2182	1	ADCY1	7	45725619	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	16589833	45725619	113413044	23	98041											
ZNF479	90827	broad.mit.edu	37	chr7	57194423	57194423	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctctgaatgtcaacagTccctggaaaacaaacaaaca	17	8	6	10	0	2	1	1	1	1	0	4	2	3	2	1	1	4	0	1	1	6	0			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:57194423T>C	ENST00000331162.4	-	3	312	c.42A>G	c.(40-42)ggA>ggG	p.G14G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATGTCAACAGTCCCTGGAAAA	0.398													36	53					0	0	0	0	C	57194423	T	C	57194423	2	2	508	1	0	0	0	0	0	0	0	1	18028	1654	58	5		5	ZNF479	7	57194423	Silent	SNP	T	TCGA-UP-A6WW-01A-12D-A34J-08	11468804	57194423	101944240	24	98042											
ZNF107	51427	broad.mit.edu	37	chr7	64168665	64168665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataattcatactggagaGaaaccttacaaatgtaaaga	20	9	7	5	0	1	3	1	0	0	3	1	5	1	4	1	1	3	1	1	1	8	5			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:64168665G>T	ENST00000395391.1	+	4	3358	c.1983G>T	c.(1981-1983)gaG>gaT	p.E661D	ZNF107_ENST00000344930.3_Missense_Mutation_p.E661D|ZNF107_ENST00000423627.1_Missense_Mutation_p.E661D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATACTGGAGAGAAACCTTACA	0.378													20	31					8.34094e-07	8.47333e-07	1	0	T	64168665	G	T	64168665	3	4	508	1	0	0	0	0	1	0	0	0	17810	933	33	2	1989	2	ZNF107	7	64168665	Missense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	6974242	64168665	94969998	25	98043											
SLC39A14	23516	broad.mit.edu	37	chr8	22267520	22267520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctctctcctgggagtcctCgtcctgccctgcacagagaa	6	9	10	16	1	1	1	0	0	1	1	6	3	4	2	5	1	2	1	5	1	1	0			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:22267520C>T	ENST00000359741.5	+	4	694	c.519C>T	c.(517-519)ctC>ctT	p.L173L	SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000289952.5_Intron	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	173						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGGGAGTCCTCGTCCTGCCCT	0.532													59	97					0	0	0	0	T	22267520	C	T	22267520	2	4	508	1	0	0	0	0	0	0	0	1	14705	871	31	1		1	SLC39A14	8	22267520	Silent	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08		22267520	124096502	26	98044											
C8orf46	254778	broad.mit.edu	37	chr8	67428270	67428270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggcacaagaagaagtctGaatatgtgggagccaccaac	16	5	11	9	0	1	3	0	1	1	2	1	4	1	4	2	2	2	1	2	2	7	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:67428270G>A	ENST00000305454.3	+	6	1024	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	195										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GAAGAAGTCTGAATATGTGGG	0.567													12	20					0	0	0	0	A	67428270	G	A	67428270	3	1	508	1	0	0	0	0	1	0	0	0	2455	1291	45	2	605	2	C8orf46	8	67428270	Missense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	45160750	67428270	78935752	27	98045											
TRAPPC9	83696	broad.mit.edu	37	chr8	141445299	141445299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagttccaccaggataGtgatagatgacagaagctga	14	7	10	10	0	0	5	0	3	0	2	1	6	1	6	4	1	1	2	4	1	3	3			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:141445299G>A	ENST00000389328.4	-	4	1079	c.1065C>T	c.(1063-1065)caC>caT	p.H355H	TRAPPC9_ENST00000438773.2_Silent_p.H257H|TRAPPC9_ENST00000389327.3_Silent_p.H257H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	257					cell differentiation	endoplasmic reticulum|Golgi apparatus				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						CACCAGGATAGTGATAGATGA	0.493													17	35					0	0	0	0	A	141445299	G	A	141445299	2	1	508	1	0	0	0	0	0	0	0	1	16560	1020	36	4		4	TRAPPC9	8	141445299	Silent	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	74017029	141445299	4918723	28	98046											
PLEC	5339	broad.mit.edu	37	chr8	144992057	144992057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcagtcccttgatggggtCgatgacgtaaccggtggccg	6	10	14	11	4	1	2	1	2	0	0	3	3	2	2	3	4	1	1	3	4	1	3			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:144992057C>T	ENST00000322810.4	-	32	12512	c.12343G>A	c.(12343-12345)Gac>Aac	p.D4115N	PLEC_ENST00000354958.2_Missense_Mutation_p.D3956N|PLEC_ENST00000357649.2_Missense_Mutation_p.D3982N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4001N|PLEC_ENST00000398774.2_Missense_Mutation_p.D3946N|PLEC_ENST00000345136.3_Missense_Mutation_p.D3978N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4005N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3978N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3964N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4115	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGATGGGGTCGATGACGTAA	0.647													15	30					0	0	0	0	T	144992057	C	T	144992057	3	4	508	1	0	0	0	0	1	0	0	0	12124	884	31	1	1715	1	PLEC	8	144992057	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	3546758	144992057	1371965	29	98047											
TRPM3	80036	broad.mit.edu	37	chr9	73213435	73213435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttcacgcagtagatgAccctcccgtcactcctgaag	9	10	9	13	2	2	4	2	3	0	1	4	4	4	4	3	0	0	3	3	0	2	2			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr9:73213435A>G	ENST00000377110.2	-	20	3155	c.2912T>C	c.(2911-2913)gTc>gCc	p.V971A	TRPM3_ENST00000396292.4_Missense_Mutation_p.V843A|TRPM3_ENST00000377106.1_Missense_Mutation_p.V843A|TRPM3_ENST00000357533.2_Missense_Mutation_p.V975A|TRPM3_ENST00000423814.3_Missense_Mutation_p.V998A|TRPM3_ENST00000358082.3_Missense_Mutation_p.V833A|TRPM3_ENST00000377105.1_Missense_Mutation_p.V830A|TRPM3_ENST00000408909.2_Missense_Mutation_p.V830A|TRPM3_ENST00000360823.2_Missense_Mutation_p.V833A|TRPM3_ENST00000396280.5_Missense_Mutation_p.V820A|TRPM3_ENST00000377111.2_Missense_Mutation_p.V971A|TRPM3_ENST00000396285.1_Missense_Mutation_p.V818A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	996						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAGTAGATGACCCTCCCGTC	0.483													61	14					0	0	0	0	G	73213435	A	G	73213435	3	3	508	1	0	0	0	0	1	0	0	0	16682	275	10	5	2235	5	TRPM3	9	73213435	Missense_Mutation	SNP	A	TCGA-UP-A6WW-01A-12D-A34J-08		73213435	67999996	30	98048											
SVIL	6840	broad.mit.edu	37	chr10	29762806	29762806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctccaccgtcatcagCgccgacgtgcccttctcact	6	9	7	19	4	3	0	3	0	1	0	6	1	5	0	5	0	3	1	5	0	0	1	rs139597633		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr10:29762806C>T	ENST00000375398.2	-	32	5939	c.5490G>A	c.(5488-5490)gcG>gcA	p.A1830A	PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000355867.4_Silent_p.A1830A|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.A744A|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.A1404A|PTCHD3P1_ENST00000413405.1_RNA			O95425	SVIL_HUMAN	supervillin	1830					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTCATCAGCGCCGACGTGC	0.647													15	21					0	0	0	0	T	29762806	C	T	29762806	2	4	508	1	0	0	0	0	0	0	0	1	15511	755	27	1		1	SVIL	10	29762806	Silent	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08		29762806	105771941	31	98049											
RHOBTB1	9886	broad.mit.edu	37	chr10	62631312	62631312	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttatttagtgcaatatcTtccttctctcgttccctttt	5	21	4	11	1	2	0	0	0	2	0	6	0	4	0	2	0	2	3	2	0	4	9			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr10:62631312T>G	ENST00000337910.5	-	11	2356	c.2019A>C	c.(2017-2019)gaA>gaC	p.E673D	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E673D	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	673					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTGCAATATCTTCCTTCTCTC	0.478													47	67					0	0	0	0	G	62631312	T	G	62631312	3	3	508	1	0	0	0	0	1	0	0	0	13416	1606	56	5	75	5	RHOBTB1	10	62631312	Missense_Mutation	SNP	T	TCGA-UP-A6WW-01A-12D-A34J-08	32868506	62631312	72903435	32	98050											
STK38L	23012	broad.mit.edu	37	chr12	27470897	27470897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgaactggaaagaaactCtggtatttcctccagaggta	13	11	10	7	0	1	4	0	2	1	2	3	5	3	5	2	3	2	2	2	3	5	3			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr12:27470897C>G	ENST00000389032.3	+	11	1193	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	STK38L_ENST00000539577.1_Missense_Mutation_p.L249V	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	342	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GAAAGAAACTCTGGTATTTCC	0.363													35	49					0	0	0	0	G	27470897	C	G	27470897	3	3	508	1	0	0	0	0	1	0	0	0	15394	912	32	2	1062	2	STK38L	12	27470897	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08		27470897	106380998	33	98051											
SCN8A	6334	broad.mit.edu	37	chr12	52115352	52115352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgctcagcatcccaggctCgcccttcctctcccgccaca	6	8	6	21	2	2	0	1	0	1	0	6	0	4	0	5	1	2	3	5	1	0	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr12:52115352C>T	ENST00000354534.5	+	12	1836	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	SCN8A_ENST00000545061.1_Missense_Mutation_p.S553L|SCN8A_ENST00000550891.1_Missense_Mutation_p.S553L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	553					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATCCCAGGCTCGCCCTTCCTC	0.592													3	5					0	0	0	0	T	52115352	C	T	52115352	3	4	508	1	0	0	0	0	1	0	0	0	14011	893	31	1	1700	1	SCN8A	12	52115352	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	24644455	52115352	81736543	34	98052											
MMP14	4323	broad.mit.edu	37	chr14	23311835	23311835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgagggcggcttcctGgcccatgcctacttcccagg	5	9	14	13	1	0	1	0	1	0	0	2	2	2	1	4	5	2	1	4	5	1	3			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr14:23311835G>A	ENST00000311852.6	+	4	858	c.597G>A	c.(595-597)ctG>ctA	p.L199L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	199						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GCGGCTTCCTGGCCCATGCCT	0.582													4	92					0	0	0	0	A	23311835	G	A	23311835	2	1	508	1	0	0	0	0	0	0	0	1	9722	1335	47	4		4	MMP14	14	23311835	Silent	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08		23311835	84037705	35	98053											
TSR1	55720	broad.mit.edu	37	chr17	2233881	2233881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcactcgaccactgagacGgggacttcagagacatgaag	14	5	12	10	2	1	3	1	2	0	2	2	7	1	4	1	2	1	1	1	2	2	1	rs137952904		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:2233881G>A	ENST00000301364.4	-	10	2777	c.1698C>T	c.(1696-1698)ccC>ccT	p.P566P		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	566					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCACTGAGACGGGGACTTCAG	0.463													37	8					0	0	0	0	A	2233881	G	A	2233881	2	1	508	1	0	0	0	0	0	0	0	1	16759	1103	39	1		1	TSR1	17	2233881	Silent	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08		2233881	78961329	36	98054											
USP43	124739	broad.mit.edu	37	chr17	9578275	9578275	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttcctgtgtgtgtccCtacctatccccttgcgccag	4	14	7	16	1	0	0	0	0	0	0	4	0	4	0	7	0	2	0	7	0	2	4			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:9578275C>T	ENST00000285199.6	+	4	904	c.808C>T	c.(808-810)Cta>Tta	p.L270L	USP43_ENST00000575346.1_3'UTR|USP43_ENST00000570827.2_5'UTR|USP43_ENST00000570475.1_Silent_p.L270L	NM_153210.4	NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	270					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTGTGTGTCCCTACCTATCCC	0.532													137	40					0	0	0	0	T	9578275	C	T	9578275	2	4	508	1	0	0	0	0	0	0	0	1	17170	680	24	4		4	USP43	17	9578275	Silent	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	7344394	9578275	71616935	37	98055											
DHRS7C	201140	broad.mit.edu	37	chr17	9680518	9680518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagcaacttacaagtcgtaCggaacgggattccaaacttc	13	10	8	10	3	0	0	0	0	0	0	3	2	1	2	1	2	6	2	1	2	7	5			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:9680518C>T	ENST00000330255.4	-	4	578	c.566G>A	c.(565-567)cGt>cAt	p.R189H	DHRS7C_ENST00000571134.1_Missense_Mutation_p.R188H	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	189						extracellular region	binding|oxidoreductase activity	p.R189L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACAAGTCGTACGGAACGGGAT	0.423													30	5					0	0	0	0	T	9680518	C	T	9680518	3	4	508	1	0	0	0	0	1	0	0	0	4534	536	19	1	384	1	DHRS7C	17	9680518	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	102243	9680518	71514692	38	98056											
UBE2O	63893	broad.mit.edu	37	chr17	74387543	74387543	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcctgctcaaagacctcGgggggccgccgcaccagctg	7	6	12	16	3	2	1	1	0	1	1	4	1	2	1	5	3	2	3	5	3	1	0	rs150209609		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:74387543G>A	ENST00000319380.7	-	18	3424	c.3360C>T	c.(3358-3360)ccC>ccT	p.P1120P		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1120							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CAAAGACCTCGGGGGGCCGCC	0.602													56	13					0	0	0	0	A	74387543	G	A	74387543	2	1	508	1	0	0	0	0	0	0	0	1	16964	1103	39	1		1	UBE2O	17	74387543	Silent	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	64707025	74387543	6807667	39	98057											
KANK2	25959	broad.mit.edu	37	chr19	11280805	11280805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtgctcacaggcgcaCatgagggccgtggagccgtc	6	6	16	13	4	1	1	1	1	0	0	2	2	1	2	3	4	2	2	3	4	0	0			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:11280805C>T	ENST00000432929.2	-	11	2715	c.2355G>A	c.(2353-2355)atG>atA	p.M785I	KANK2_ENST00000355150.5_Missense_Mutation_p.M777I|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000586659.1_Missense_Mutation_p.M777I|KANK2_ENST00000589359.1_Missense_Mutation_p.M785I|KANK2_ENST00000589894.1_Missense_Mutation_p.M777I	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	777										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACAGGCGCACATGAGGGCCG	0.637													40	22					0	0	0	0	T	11280805	C	T	11280805	3	4	508	1	0	0	0	0	1	0	0	0	8030	478	17	4	236	4	KANK2	19	11280805	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08		11280805	47848178	40	98058											
RHPN2	85415	broad.mit.edu	37	chr19	33512485	33512485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagatttaccttgaggaCgactgcaaagtcgacgtctt	10	13	10	8	3	1	2	0	2	1	1	2	6	1	3	1	1	2	1	1	1	2	5	rs149250532	by1000genomes	TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:33512485C>T	ENST00000254260.3	-	4	417	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	RHPN2_ENST00000400226.4_Intron	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	128	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					ACCTTGAGGACGACTGCAAAG	0.478													26	35					0	0	0	0	T	33512485	C	T	33512485	3	4	508	1	0	0	0	0	1	0	0	0	13434	536	19	1	1726	1	RHPN2	19	33512485	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	22231680	33512485	25616498	41	98059											
ISOC2	79763	broad.mit.edu	37	chr19	55966722	55966722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagagagaggtcagggcCaaccccggataagaacgggg	12	3	18	8	2	1	3	1	0	0	3	1	5	1	4	3	6	2	1	3	6	4	2			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:55966722C>T	ENST00000085068.3	-	4	508	c.372G>A	c.(370-372)ttG>ttA	p.L124L	ISOC2_ENST00000425675.2_Intron|ISOC2_ENST00000438389.2_Intron	NM_001136201.1|NM_024710.2	NP_001129673.1|NP_078986.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	116					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		AGGTCAGGGCCAACCCCGGAT	0.617													13	23					0	0	0	0	T	55966722	C	T	55966722	2	4	508	1	0	0	0	0	0	0	0	1	7916	593	21	4		4	ISOC2	19	55966722	Silent	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	22454237	55966722	3162261	42	98060											
UBOX5	22888	broad.mit.edu	37	chr20	3095970	3095970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgagccggtgccaggcctCcaggaagtgttgctccctct	5	8	12	16	2	1	0	0	0	1	0	3	2	3	1	6	3	3	2	6	3	1	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr20:3095970C>A	ENST00000217173.2	-	4	1869	c.1398G>T	c.(1396-1398)tgG>tgT	p.W466C	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	466						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TGCCAGGCCTCCAGGAAGTGT	0.622											OREG0025729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0.00152264	0.00152264	1	0	A	3095970	C	A	3095970	3	1	508	1	0	0	0	0	1	0	0	0	16990	856	30	2	235	2	UBOX5	20	3095970	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08		3095970	59929550	43	98061											
PTGIS	5740	broad.mit.edu	37	chr20	48164408	48164408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccttttcatcactggggCtgtaatgtggaagctgcaca	8	12	12	9	0	2	0	2	0	0	0	2	1	2	1	1	4	2	4	1	4	2	3			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr20:48164408C>T	ENST00000244043.4	-	3	376	c.347G>A	c.(346-348)aGc>aAc	p.S116N	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	116					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ATCACTGGGGCTGTAATGTGG	0.562													101	151					0	0	0	0	T	48164408	C	T	48164408	3	4	508	1	0	0	0	0	1	0	0	0	12832	797	28	4	1187	4	PTGIS	20	48164408	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08	45068438	48164408	14861112	44	98062											
TRIOBP	11078	broad.mit.edu	37	chr22	38111796	38111796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacactgttgagaggcaggaGgaggaggcccccagctggga	10	4	18	9	0	0	1	0	1	0	1	0	7	0	5	2	6	1	3	2	6	0	1			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr22:38111796G>T	ENST00000406386.3	+	6	738	c.483G>T	c.(481-483)gaG>gaT	p.E161D	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	161					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGGCAGGAGGAGGAGGCCC	0.592													20	16					3.62473e-10	3.86638e-10	1	0	T	38111796	G	T	38111796	3	4	508	1	0	0	0	0	1	0	0	0	16648	991	35	4	497	4	TRIOBP	22	38111796	Missense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08		38111796	13192770	45	98063											
PDK3	5165	broad.mit.edu	37	chrX	24512955	24512955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagttaatcttctgcCggataatttacttaaccgcc	12	12	8	9	2	2	1	0	0	2	1	2	4	2	2	3	1	3	1	3	1	5	6			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:24512955C>G	ENST00000441463.2	+	2	203	c.203C>G	c.(202-204)cCg>cGg	p.P68R	PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Missense_Mutation_p.P68R	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	68					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.P68R(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATCTTCTGCCGGATAATTTA	0.408													33	7					0	0	0	0	G	24512955	C	G	24512955	3	3	508	1	0	0	0	0	1	0	0	0	11748	652	23	3	209	3	PDK3	23	24512955	Missense_Mutation	SNP	C	TCGA-UP-A6WW-01A-12D-A34J-08		24512955	130757605	46	98064											
USP9X	8239	broad.mit.edu	37	chrX	41000615	41000616	+	Frame_Shift_Ins	INS	-	-	CACCTTA																															ttaataaggtgatatctagtINSgtatcatactatactcatcg																										TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:41000615_41000616insCACCTTA	ENST00000324545.7	+	9	1725_1726	c.1092_1093insCACCTTA	c.(1090-1095)agtatcfs	p.I365fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.I365fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	365					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGATATCTAGTGTATCATACTA	0.351													15	9	---	---	---	---					CACCTTA	41000616	-	CACCTTA	41000615	7	5	508	1	0	1	1	0	0	0	0	0	17186	1693	59	0	1122	0	USP9X	23	41000615	Frame_Shift_Ins	INS	-	TCGA-UP-A6WW-01A-12D-A34J-08	16487660	41000615	114269945	47	98065	1168	2									
USP9X	8239	broad.mit.edu	37	chrX	41000616	41000616	+	Missense_Mutation	SNP	G	G	T																															ttaataaggtgatatctagtGtatcatactatactcatcga																										TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:41000616G>T	ENST00000324545.7	+	9	1726	c.1093G>T	c.(1093-1095)Gta>Tta	p.V365L	USP9X_ENST00000378308.2_Missense_Mutation_p.V365L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	365					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GATATCTAGTGTATCATACTA	0.353													16	8					4.7546e-09	4.98844e-09	1	0	T	41000616	G	T	41000616	3	4	508	1	0	0	0	0	1	0	0	0	17186	1377	48	4	1123	4	USP9X	23	41000616	Missense_Mutation	SNP	G	TCGA-UP-A6WW-01A-12D-A34J-08	1	41000616	114269944	48	98066	1168	2									
MMEL1	79258	broad.mit.edu	37	chr1	2541172	2541172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtatcttgagttggtctCagggatcacgtggcgccgca	6	11	14	10	3	3	1	2	1	2	0	4	2	3	2	1	3	0	4	1	3	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:2541172C>G	ENST00000288709.6	-	5	604	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	MMEL1_ENST00000502556.1_Missense_Mutation_p.E131Q|MMEL1_ENST00000378412.3_Missense_Mutation_p.E131Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	131					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GAGTTGGTCTCAGGGATCACG	0.617													26	56					0	0	0	0	G	2541172	C	G	2541172	3	3	509	1	0	0	0	0	1	0	0	0	9715	835	29	2	2028	2	MMEL1	1	2541172	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		2541172	246709449	1	98067											
CELA3A	10136	broad.mit.edu	37	chr1	22332001	22332001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtggcggtagcctcatcgCccccgattgggttgtgactg	4	11	15	11	3	1	1	1	1	0	0	2	2	1	1	3	3	1	2	3	3	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:22332001C>T	ENST00000290122.3	+	3	210	c.191C>T	c.(190-192)gCc>gTc	p.A64V	CELA3A_ENST00000374663.1_Missense_Mutation_p.A64V	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCCTCATCGCCCCCGATTGG	0.627											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	142					0	0	0	0	T	22332001	C	T	22332001	3	4	509	1	0	0	0	0	1	0	0	0	3242	739	26	4	201	4	CELA3A	1	22332001	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	19790829	22332001	226918620	2	98068											
C1orf172	126695	broad.mit.edu	37	chr1	27278035	27278035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtcctgcgtgatgctgctGataaggtccgagatcttact	8	13	11	9	2	1	3	0	2	1	1	3	4	3	3	2	1	4	2	2	1	3	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:27278035G>A	ENST00000320567.5	-	2	925	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	279										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGATGCTGCTGATAAGGTCCG	0.562													14	31					0	0	0	0	A	27278035	G	A	27278035	2	1	509	1	0	0	0	0	0	0	0	1	2032	1280	45	2		2	C1orf172	1	27278035	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	4946034	27278035	221972586	3	98069											
HIVEP3	59269	broad.mit.edu	37	chr1	42041238	42041238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcgaagattttgatcctCgccggctcccctctctggga	5	12	9	15	3	1	2	0	1	1	1	6	4	3	3	5	2	0	1	5	2	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:42041238C>T	ENST00000372584.1	-	4	6198	c.5184G>A	c.(5182-5184)gcG>gcA	p.A1728A	HIVEP3_ENST00000372583.1_Silent_p.A1728A|HIVEP3_ENST00000247584.5_Silent_p.A1728A|HIVEP3_ENST00000429157.2_Silent_p.A1728A|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1728					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTTTGATCCTCGCCGGCTCCC	0.567													31	192					0	0	0	0	T	42041238	C	T	42041238	2	4	509	1	0	0	0	0	0	0	0	1	7238	871	31	1		1	HIVEP3	1	42041238	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	14763203	42041238	207209383	4	98070											
FOXJ3	22887	broad.mit.edu	37	chr1	42657219	42657219	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatctgggggtgagacagtGagacctgtgcaaccgaatta	11	8	14	8	1	1	2	0	2	1	2	1	5	1	2	2	2	2	2	2	2	3	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:42657219G>C	ENST00000372572.1	-	11	1417	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	FOXJ3_ENST00000361346.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000372573.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000361776.1_Nonsense_Mutation_p.S335*|FOXJ3_ENST00000545068.1_Nonsense_Mutation_p.S369*	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	369					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGAGACAGTGAGACCTGTGC	0.577													7	214					0	0	0	0	C	42657219	G	C	42657219	4	2	509	1	0	0	0	0	0	1	0	0	6060	1294	45	2	782	2	FOXJ3	1	42657219	Nonsense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	615981	42657219	206593402	5	98071											
LPPR4	9890	broad.mit.edu	37	chr1	99730036	99730036	+	Frame_Shift_Del	DEL	G	G	-																															ctggctccagcggtggccgcGgggaatgtgacatcagcggc																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:99730036delG	ENST00000370185.3	+	1	528	c.31delG	c.(31-33)ggfs	p.G11fs	LPPR4_ENST00000457765.1_Frame_Shift_Del_p.G11fs	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		11							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CGGTGGCCGCGGGGAATGTGA	0.716													2	4	---	---	---	---					-	99730036	G	-	99730036	7	5	509	1	0	1	0	1	0	0	0	0	8991	1116	39	0	33	0	LPPR4	1	99730036	Frame_Shift_Del	DEL	G	TCGA-WA-A7GZ-01A-11D-A34J-08	57072817	99730036	149520585	6	98072											
CHIA	27159	broad.mit.edu	37	chr1	111857201	111857201	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctggccattggaggctgGaacttcgggactgccccgta	6	9	13	13	2	0	0	0	0	0	0	2	3	1	3	4	5	2	2	4	5	2	3	rs147282128		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:111857201G>A	ENST00000369740.1	+	5	400	c.297G>A	c.(295-297)tgG>tgA	p.W99*	CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Nonsense_Mutation_p.W99*|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000430615.1_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	99	Chitooligosaccharide binding (Probable).				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TTGGAGGCTGGAACTTCGGGA	0.443													20	29					0	0	0	0	A	111857201	G	A	111857201	4	1	509	1	0	0	0	0	0	1	0	0	3371	1183	41	2	311	2	CHIA	1	111857201	Nonsense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	12127165	111857201	137393420	7	98073											
HMGCS2	3158	broad.mit.edu	37	chr1	120293524	120293524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgtcaccaggtggggaGaaattcactgtggaatgagg	10	11	15	5	0	2	2	2	1	0	1	2	4	2	3	1	5	0	0	1	5	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:120293524G>A	ENST00000369406.3	-	9	1477	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	HMGCS2_ENST00000544913.2_Silent_p.F434F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	476					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CAGGTGGGGAGAAATTCACTG	0.488													8	20					0	0	0	0	A	120293524	G	A	120293524	2	1	509	1	0	0	0	0	0	0	0	1	7283	933	33	2		2	HMGCS2	1	120293524	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	8436323	120293524	128957097	8	98074											
BCL9	607	broad.mit.edu	37	chr1	147090756	147090756	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattccggcaccagcaccCaagcctgccgcacccccacg	8	3	7	23	3	0	0	0	0	0	0	1	0	1	0	8	1	3	3	8	1	1	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:147090756C>A	ENST00000234739.3	+	8	1535	c.795C>A	c.(793-795)ccC>ccA	p.P265P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	265	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACCAGCACCCAAGCCTGCCG	0.602			T	"IGH@, IGL@"	B-ALL								32	59					6.04164e-23	6.90827e-23	1	0	A	147090756	C	A	147090756	2	1	509	1	0	0	0	0	0	0	0	1	1385	581	21	4		4	BCL9	1	147090756	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	26797232	147090756	102159865	9	98075											
FLG	2312	broad.mit.edu	37	chr1	152276071	152276071	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtcttcctcctctccttGaccccgggtgtccacgaatg	4	12	8	17	2	2	1	0	1	2	0	6	2	5	1	7	1	0	0	7	1	1	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:152276071G>C	ENST00000368799.1	-	3	11326	c.11291C>G	c.(11290-11292)tCa>tGa	p.S3764*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3764	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTCCTTGACCCCGGGTG	0.597									Ichthyosis				199	367					0	0	0	0	C	152276071	G	C	152276071	4	2	509	1	0	0	0	0	0	1	0	0	5967	1294	45	2	898	2	FLG	1	152276071	Nonsense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	5185315	152276071	96974550	10	98076											
NR1I3	9970	broad.mit.edu	37	chr1	161202965	161202965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcggtgctcaccctaaaCtgcacaaactgttcaaacat	12	10	6	13	1	2	0	2	0	0	0	3	0	2	0	1	1	5	3	1	1	4	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:161202965C>A	ENST00000367983.4	-	4	696	c.402G>T	c.(400-402)caG>caT	p.Q134H	NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000504010.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000505005.1_Missense_Mutation_p.Q134H|NR1I3_ENST00000412844.2_Missense_Mutation_p.Q105H|NR1I3_ENST00000367982.4_Missense_Mutation_p.Q134H|NR1I3_ENST00000508740.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000442691.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000437437.2_Missense_Mutation_p.Q105H|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000428574.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000367979.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000512372.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.Q134H|NR1I3_ENST00000367981.3_Missense_Mutation_p.Q105H|NR1I3_ENST00000367984.4_Missense_Mutation_p.Q134H|NR1I3_ENST00000511676.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000367985.3_Missense_Mutation_p.Q134H|NR1I3_ENST00000367980.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000515621.1_Missense_Mutation_p.Q59H			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	134					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCACCCTAAACTGCACAAACT	0.517													6	262					1.26484e-09	1.39483e-09	1	0	A	161202965	C	A	161202965	3	1	509	1	0	0	0	0	1	0	0	0	10692	564	20	4	790	4	NR1I3	1	161202965	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	8926894	161202965	88047656	11	98077											
NPHS2	7827	broad.mit.edu	37	chr1	179544737	179544737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccgtaccttcctcgggcCgctcgctctccaacagcgcc	6	8	8	19	5	1	0	0	0	1	0	6	0	3	0	6	1	3	3	6	1	3	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:179544737C>A	ENST00000367615.4	-	1	331	c.263G>T	c.(262-264)cGg>cTg	p.R88L	NPHS2_ENST00000367616.4_Missense_Mutation_p.R88L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	88					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTCCTCGGGCCGCTCGCTCTC	0.652													5	22					0.00307968	0.00317059	1	0	A	179544737	C	A	179544737	3	1	509	1	0	0	0	0	1	0	0	0	10653	652	23	3	920	3	NPHS2	1	179544737	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	18341772	179544737	69705884	12	98078											
CFH	3075	broad.mit.edu	37	chr1	196716277	196716277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgagaaattatggaaaattAtaacatagcattaaggtgga	18	10	9	4	1	0	1	0	0	0	1	0	4	0	3	1	3	2	1	1	3	8	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:196716277A>G	ENST00000367429.4	+	22	3770	c.3530A>G	c.(3529-3531)tAt>tGt	p.Y1177C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1177	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGAAAATTATAACATAGCA	0.343													24	82					0	0	0	0	G	196716277	A	G	196716277	3	3	509	1	0	0	0	0	1	0	0	0	3312	449	16	5	3634	5	CFH	1	196716277	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	17171540	196716277	52534344	13	98079											
ZBTB41	360023	broad.mit.edu	37	chr1	197128584	197128584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattgttctctaggatctaGcatttgttcaggtcgaactg	9	15	10	7	1	3	1	1	0	2	1	5	3	3	2	0	2	2	3	0	2	3	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:197128584G>C	ENST00000367405.4	-	10	2703	c.2635C>G	c.(2635-2637)Cta>Gta	p.L879V	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTAGGATCTAGCATTTGTTCA	0.383													31	144					0	0	0	0	C	197128584	G	C	197128584	3	2	509	1	0	0	0	0	1	0	0	0	17638	962	34	4	98	4	ZBTB41	1	197128584	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	412307	197128584	52122037	14	98080											
CRB1	23418	broad.mit.edu	37	chr1	197404289	197404289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaagggtgtctaagtaCaatagaaatcggaggcattt	13	10	11	7	1	1	1	0	0	1	1	2	2	1	2	1	3	2	3	1	3	6	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:197404289C>A	ENST00000367397.1	+	5	2297	c.1439C>A	c.(1438-1440)aCa>aAa	p.T480K	CRB1_ENST00000535699.1_Missense_Mutation_p.T1075K|CRB1_ENST00000367399.2_Missense_Mutation_p.T987K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.T1099K|CRB1_ENST00000544212.1_Missense_Mutation_p.T580K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1099	EGF-like 11.		C -> G (in LCA8).|C -> R (in LCA8).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTCTAAGTACAATAGAAATC	0.358													32	55					1.08312e-15	1.21362e-15	1	0	A	197404289	C	A	197404289	3	1	509	1	0	0	0	0	1	0	0	0	3878	478	17	4	3330	4	CRB1	1	197404289	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	275705	197404289	51846332	15	98081											
FMN2	56776	broad.mit.edu	37	chr1	240458175	240458175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagacccttcaagctctcTatgagaatgtgagtaataga	13	11	10	7	0	2	4	1	2	1	3	3	6	2	4	1	1	1	2	1	1	5	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:240458175T>C	ENST00000319653.9	+	8	4437	c.4207T>C	c.(4207-4209)Tat>Cat	p.Y1403H	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1403	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAAGCTCTCTATGAGAATGT	0.368													12	78					0	0	0	0	C	240458175	T	C	240458175	3	2	509	1	0	0	0	0	1	0	0	0	5995	1522	53	5	4237	5	FMN2	1	240458175	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	43053886	240458175	8792446	16	98082											
FNDC4	64838	broad.mit.edu	37	chr2	27717517	27717517	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccccacggagtccgctGgggggggaactgtggcatcc	6	7	16	12	2	0	0	0	0	0	0	3	2	3	2	4	6	1	2	4	6	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:27717517G>T	ENST00000264703.3	-	2	421	c.30C>A	c.(28-30)ccC>ccA	p.P10P		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	10						integral to membrane		p.S11fs*28(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGAGTCCGCTGGGGGGGGAAC	0.647													8	12					1.12685e-05	1.20456e-05	1	0	T	27717517	G	T	27717517	2	4	509	1	0	0	0	0	0	0	0	1	6016	1335	47	4		4	FNDC4	2	27717517	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08		27717517	215481856	17	98083											
VIT	5212	broad.mit.edu	37	chr2	36970262	36970262	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgcctcagatcaactgCgatgtcaaagccggaaagat	12	8	11	10	2	3	2	3	0	0	2	3	4	3	3	2	1	4	1	2	1	3	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:36970262C>T	ENST00000379242.3	+	4	440	c.138C>T	c.(136-138)tgC>tgT	p.C46C	VIT_ENST00000401530.1_Silent_p.C46C|VIT_ENST00000379241.3_Silent_p.C46C|VIT_ENST00000457137.2_Silent_p.C46C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000404084.1_Silent_p.C24C|VIT_ENST00000389975.3_Silent_p.C46C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	46	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGATCAACTGCGATGTCAAAG	0.438													4	105					0	0	0	0	T	36970262	C	T	36970262	2	4	509	1	0	0	0	0	0	0	0	1	17267	776	27	1		1	VIT	2	36970262	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	9252745	36970262	206229111	18	98084											
THADA	63892	broad.mit.edu	37	chr2	43801634	43801634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaggagaaacccaagtctCatgccactggtcaatccaag	14	6	10	11	0	2	2	2	0	1	2	4	4	3	2	3	2	2	0	3	2	4	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:43801634C>G	ENST00000403856.1	-	12	1717	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	THADA_ENST00000402360.2_Missense_Mutation_p.E524Q|THADA_ENST00000330266.7_Missense_Mutation_p.E234Q|THADA_ENST00000404790.1_Missense_Mutation_p.E524Q|THADA_ENST00000415080.2_Missense_Mutation_p.E234Q|THADA_ENST00000405975.2_Missense_Mutation_p.E524Q|THADA_ENST00000405006.4_Missense_Mutation_p.E524Q			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	524							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCCAAGTCTCATGCCACTGG	0.373													14	25					0	0	0	0	G	43801634	C	G	43801634	3	3	509	1	0	0	0	0	1	0	0	0	15934	835	29	2	4403	2	THADA	2	43801634	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	6831372	43801634	199397739	19	98085											
FBXO11	80204	broad.mit.edu	37	chr2	48059544	48059544	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgatgaatatgattccGtctaataattgggtttccat	11	16	7	7	1	1	3	0	3	1	0	4	3	4	3	3	1	0	1	3	1	4	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:48059544G>A	ENST00000434523.2	-	0	46				FBXO11_ENST00000403359.3_Missense_Mutation_p.R448W|FBXO11_ENST00000402508.1_Missense_Mutation_p.R364W|FBXO11_ENST00000316377.4_Missense_Mutation_p.R364W			Q86XK2	FBX11_HUMAN	F-box protein 11						ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATATGATTCCGTCTAATAATT	0.343			"Mis, F, D"		DLBCL								17	56					0	0	0	0	A	48059544	G	A	48059544	1	1	509	1	0	0	0	0	0	0	0	0	5772	1144	40	1		1	FBXO11	2	48059544	Translation_Start_Site	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	4257910	48059544	195139829	20	98086											
PAPOLG	64895	broad.mit.edu	37	chr2	60998716	60998716	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatttagatctaagagaCgactctcgcctgagaagcct	13	10	9	9	2	2	3	0	1	2	3	3	7	2	3	2	0	1	0	2	0	4	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:60998716C>T	ENST00000238714.3	+	7	804	c.555C>T	c.(553-555)gaC>gaT	p.D185D		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	185					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATCTAAGAGACGACTCTCGCC	0.343													25	92					0	0	0	0	T	60998716	C	T	60998716	2	4	509	1	0	0	0	0	0	0	0	1	11502	535	19	1		1	PAPOLG	2	60998716	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	12939172	60998716	182200657	21	98087											
NFU1	27247	broad.mit.edu	37	chr2	69623404	69623404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtttgcttctttttcatCtgattcatcatccataacct	8	19	4	10	0	5	2	3	2	2	0	6	2	6	2	2	0	2	2	2	0	1	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:69623404C>T	ENST00000410022.2	-	8	944	c.739G>A	c.(739-741)Gat>Aat	p.D247N	NFU1_ENST00000303698.3_Missense_Mutation_p.D223N|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000462320.1_Missense_Mutation_p.D106N|NFU1_ENST00000394305.1_Missense_Mutation_p.D106N	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	247					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TCTTTTTCATCTGATTCATCA	0.254													15	140					0	0	0	0	T	69623404	C	T	69623404	3	4	509	1	0	0	0	0	1	0	0	0	10456	913	32	2	29	2	NFU1	2	69623404	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	8624688	69623404	173575969	22	98088											
EXOC6B	23233	broad.mit.edu	37	chr2	72968463	72968463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcttctcctctcactttCagcagttcagttatagagtc	7	15	8	11	0	4	1	3	0	2	1	7	1	4	1	1	1	1	4	1	1	2	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:72968463C>T	ENST00000272427.6	-	2	379	c.249G>A	c.(247-249)ctG>ctA	p.L83L	EXOC6B_ENST00000410104.1_Silent_p.L83L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	83					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTCTCACTTTCAGCAGTTCAG	0.418													24	189					0	0	0	0	T	72968463	C	T	72968463	2	4	509	1	0	0	0	0	0	0	0	1	5346	813	29	2		2	EXOC6B	2	72968463	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	3345059	72968463	170230910	23	98089											
MOGS	7841	broad.mit.edu	37	chr2	74692085	74692085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgtgagggcggtaggttCcccagaagaggtccggggcc	8	5	18	10	3	0	4	0	1	0	3	2	4	2	4	4	6	0	2	4	6	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:74692085C>A	ENST00000233616.4	-	1	452	c.290G>T	c.(289-291)gGa>gTa	p.G97V	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.G97V|MOGS_ENST00000535045.1_Missense_Mutation_p.G97V|MOGS_ENST00000452063.2_5'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	97					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCGGTAGGTTCCCCAGAAGAG	0.721													6	12					1	1	1	0	A	74692085	C	A	74692085	3	1	509	1	0	0	0	0	1	0	0	0	9767	855	30	2	2239	2	MOGS	2	74692085	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	1723622	74692085	168507288	24	98090											
POLR1A	25885	broad.mit.edu	37	chr2	86260842	86260842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtgtagctcttcgagtgTttacgttcctgaaagctgat	7	15	11	8	2	1	2	0	2	1	0	3	3	2	2	1	0	3	6	1	0	3	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:86260842T>C	ENST00000263857.6	-	28	4481	c.4103A>G	c.(4102-4104)aAc>aGc	p.N1368S	POLR1A_ENST00000409681.1_Missense_Mutation_p.N1368S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1368					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCTTCGAGTGTTTACGTTCCT	0.478													12	37					0	0	0	0	C	86260842	T	C	86260842	3	2	509	1	0	0	0	0	1	0	0	0	12281	1725	60	5	1087	5	POLR1A	2	86260842	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	11568757	86260842	156938531	25	98091											
KDM3A	55818	broad.mit.edu	37	chr2	86684151	86684151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacgcaagtcttctgagaAtaatggaaccctggtttcca	14	10	8	9	1	2	1	0	1	2	1	3	3	3	2	2	2	2	2	2	2	6	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:86684151A>G	ENST00000409556.1	+	9	1165	c.800A>G	c.(799-801)aAt>aGt	p.N267S	KDM3A_ENST00000409064.1_Missense_Mutation_p.N267S|KDM3A_ENST00000312912.5_Missense_Mutation_p.N267S|KDM3A_ENST00000542128.1_Missense_Mutation_p.N215S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	267					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TCTTCTGAGAATAATGGAACC	0.363													21	54					0	0	0	0	G	86684151	A	G	86684151	3	3	509	1	0	0	0	0	1	0	0	0	8179	101	4	5	826	5	KDM3A	2	86684151	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	423309	86684151	156515222	26	98092											
UNC50	25972	broad.mit.edu	37	chr2	99226188	99226188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatgtttcttcagaataCgtgtaaaagaaatgtttttc	14	15	6	6	1	2	2	1	0	1	2	3	2	2	2	1	0	1	3	1	0	6	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:99226188C>T	ENST00000409975.1	+	1	1147	c.17C>T	c.(16-18)aCg>aTg	p.T6M	UNC50_ENST00000357765.2_Intron|UNC50_ENST00000409347.1_Missense_Mutation_p.T6M			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	0					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTTCAGAATACGTGTAAAAGA	0.453													5	304					0	0	0	0	T	99226188	C	T	99226188	3	4	509	1	0	0	0	0	1	0	0	0	17086	551	19	1		1	UNC50	2	99226188	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	12542037	99226188	143973185	27	98093											
MERTK	10461	broad.mit.edu	37	chr2	112702628	112702628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctgatcccatctacatcGaagtacaaggtaagtccaca	13	10	7	11	1	2	1	0	1	2	0	5	2	4	1	2	1	2	2	2	1	5	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:112702628G>A	ENST00000295408.4	+	3	831	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	MERTK_ENST00000421804.2_Missense_Mutation_p.E192K|MERTK_ENST00000409780.1_Missense_Mutation_p.E16K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	192					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATCTACATCGAAGTACAAGG	0.408													12	50					0	0	0	0	A	112702628	G	A	112702628	3	1	509	1	0	0	0	0	1	0	0	0	9548	1059	37	1	584	1	MERTK	2	112702628	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	13476440	112702628	130496745	28	98094											
THSD7B	80731	broad.mit.edu	37	chr2	138169405	138169405	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcctgttctgataaaaaTggaagacctgttgacccctc	11	11	9	10	0	1	3	0	2	1	1	2	4	1	4	4	1	1	3	4	1	5	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:138169405T>A	ENST00000409968.1	+	14	3100	c.2922T>A	c.(2920-2922)aaT>aaA	p.N974K	THSD7B_ENST00000413152.2_Missense_Mutation_p.N943K|THSD7B_ENST00000272643.3_Missense_Mutation_p.N974K|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGATAAAAATGGAAGACCTG	0.527													15	30					0	0	0	0	A	138169405	T	A	138169405	3	1	509	1	0	0	0	0	1	0	0	0	15974	1461	51	5	2879	5	THSD7B	2	138169405	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	25466777	138169405	105029968	29	98095											
GTDC1	79712	broad.mit.edu	37	chr2	144714808	144714808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgttgagatgacaacatCagccatgcacagtacttgga	13	9	10	9	0	1	2	1	2	0	1	1	4	1	3	1	1	5	4	1	1	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:144714808C>T	ENST00000409214.1	-	9	1362	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	GTDC1_ENST00000344850.4_Missense_Mutation_p.D362N|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000392869.1_Missense_Mutation_p.D362N|GTDC1_ENST00000463875.2_Missense_Mutation_p.D233N|GTDC1_ENST00000542155.1_Missense_Mutation_p.D362N|GTDC1_ENST00000409298.1_Missense_Mutation_p.D244N|GTDC1_ENST00000241391.5_Intron	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	362					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATGACAACATCAGCCATGCAC	0.388													14	57					0	0	0	0	T	144714808	C	T	144714808	3	4	509	1	0	0	0	0	1	0	0	0	6901	826	29	2	308	2	GTDC1	2	144714808	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	6545403	144714808	98484565	30	98096											
PRPF40A	55660	broad.mit.edu	37	chr2	153532918	153532918	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacaagttactaaacttaCtcagctacagtttcttgctt	13	14	5	9	0	2	1	1	0	1	1	2	1	2	1	0	0	6	4	0	0	7	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:153532918C>G	ENST00000410080.1	-	10	1573		c.e10+1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	p.?(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ACTAAACTTACTCAGCTACAG	0.333													6	5					0	0	0	0	G	153532918	C	G	153532918	5	3	509	1	0	0	0	0	0	0	1	0	12651	579	20	4	1828	4	PRPF40A	2	153532918	Splice_Site	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	8818110	153532918	89666455	31	98097											
ITGB6	3694	broad.mit.edu	37	chr2	160994681	160994681	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtccttcagtgtctcctaaTacttccagttccacctcaga	9	13	5	14	0	3	1	2	0	1	1	7	1	6	1	5	0	1	1	5	0	2	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:160994681T>C	ENST00000283249.2	-	9	1374	c.1137A>G	c.(1135-1137)gtA>gtG	p.V379V	ITGB6_ENST00000428609.2_Silent_p.V337V|ITGB6_ENST00000409872.1_Silent_p.V379V|ITGB6_ENST00000409967.2_Silent_p.V379V			P18564	ITB6_HUMAN	integrin, beta 6	379					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTCTCCTAATACTTCCAGTT	0.428													40	95					0	0	0	0	C	160994681	T	C	160994681	2	2	509	1	0	0	0	0	0	0	0	1	7952	1393	49	5		5	ITGB6	2	160994681	Silent	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	7461763	160994681	82204692	32	98098											
LRP2	4036	broad.mit.edu	37	chr2	170042104	170042104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttattcagaaacattctctCaatgacttgcctctgtgtat	10	16	5	10	0	4	2	2	1	2	1	5	2	4	2	1	0	2	1	1	0	4	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:170042104C>G	ENST00000263816.3	-	50	10039	c.9754G>C	c.(9754-9756)Gag>Cag	p.E3252Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3252					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACATTCTCTCAATGACTTGC	0.413													28	68					0	0	0	0	G	170042104	C	G	170042104	3	3	509	1	0	0	0	0	1	0	0	0	9020	835	29	2	4333	2	LRP2	2	170042104	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	9047423	170042104	73157269	33	98099											
LRP2	4036	broad.mit.edu	37	chr2	170042307	170042307	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggtctttccatctggttctCggaggtagcctggggcacac	6	11	13	11	1	3	0	0	0	3	0	5	1	4	1	2	6	1	3	2	6	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:170042307C>G	ENST00000263816.3	-	50	9836	c.9551G>C	c.(9550-9552)cGa>cCa	p.R3184P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3184	EGF-like 12; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCTGGTTCTCGGAGGTAGCC	0.423													54	139					0	0	0	0	G	170042307	C	G	170042307	3	3	509	1	0	0	0	0	1	0	0	0	9020	884	31	3	4536	3	LRP2	2	170042307	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	203	170042307	73157066	34	98100											
TTN	7273	broad.mit.edu	37	chr2	179498022	179498022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaaacacctctactccGtacagaggcttttccacttt	11	11	4	15	1	1	1	0	0	1	1	3	1	3	1	4	1	4	2	4	1	4	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:179498022G>A	ENST00000589042.1	-	233	43202	c.42978C>T	c.(42976-42978)taC>taT	p.Y14326Y	TTN_ENST00000359218.5_Silent_p.Y5386Y|TTN_ENST00000342992.6_Silent_p.Y11758Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.Y12685Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.Y5453Y|TTN_ENST00000460472.2_Silent_p.Y5261Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12685							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTACTCCGTACAGAGGCT	0.408													47	115					0	0	0	0	A	179498022	G	A	179498022	2	1	509	1	0	0	0	0	0	0	0	1	16831	1140	40	1		1	TTN	2	179498022	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	9455715	179498022	63701351	35	98101											
CCDC141	285025	broad.mit.edu	37	chr2	179718336	179718336	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggcacttgcatcttCgtaccaaaaatgacactaaa	15	10	6	10	1	1	1	0	1	1	0	2	1	1	1	1	1	3	3	1	1	6	4	rs139365189	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:179718336C>A	ENST00000420890.2	-	20	3193	c.3076G>T	c.(3076-3078)Gaa>Taa	p.E1026*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.E451*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	451							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTGCATCTTCGTACCAAAAA	0.338													25	68					3.73808e-20	4.23953e-20	1	0	A	179718336	C	A	179718336	4	1	509	1	0	0	0	0	0	1	0	0	2800	893	31	3	1292	3	CCDC141	2	179718336	Nonsense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	220314	179718336	63481037	36	98102											
CERKL	375298	broad.mit.edu	37	chr2	182413467	182413467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttggttaggggacatccatCgatatttttctgccagagcc	8	13	11	9	1	1	1	0	0	1	1	3	3	2	2	3	3	2	2	3	3	2	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:182413467C>G	ENST00000410087.3	-	7	1113	c.1013G>C	c.(1012-1014)cGa>cCa	p.R338P	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R320P|CERKL_ENST00000374969.2_Missense_Mutation_p.R225P|CERKL_ENST00000374970.2_Missense_Mutation_p.R269P|CERKL_ENST00000339098.5_Missense_Mutation_p.R364P	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	364	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGACATCCATCGATATTTTTC	0.453													11	96					0	0	0	0	G	182413467	C	G	182413467	3	3	509	1	0	0	0	0	1	0	0	0	3297	884	31	3	613	3	CERKL	2	182413467	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	2695131	182413467	60785906	37	98103											
DNAJC10	54431	broad.mit.edu	37	chr2	183601042	183601042	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctttgtaaaagcttagatAttacaacaagtactactgct	15	13	5	8	0	0	1	0	0	0	1	0	1	0	1	1	0	6	4	1	0	9	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:183601042A>T	ENST00000264065.6	+	11	1331	c.916A>T	c.(916-918)Att>Ttt	p.I306F	DNAJC10_ENST00000537515.1_Missense_Mutation_p.I306F	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	306					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGCTTAGATATTACAACAAG	0.328													24	53					0	0	0	0	T	183601042	A	T	183601042	3	4	509	1	0	0	0	0	1	0	0	0	4665	449	16	5	950	5	DNAJC10	2	183601042	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	1187575	183601042	59598331	38	98104											
MFSD6	54842	broad.mit.edu	37	chr2	191353419	191353419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgggcagcatgcatttCttacctcagtgcagccgttc	7	12	9	13	1	3	0	1	0	2	0	4	0	3	0	2	1	5	5	2	1	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:191353419C>G	ENST00000392328.1	+	5	1991	c.1667C>G	c.(1666-1668)tCt>tGt	p.S556C	MFSD6_ENST00000535751.1_Missense_Mutation_p.S18C|MFSD6_ENST00000281416.7_Missense_Mutation_p.S556C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	556					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GCATGCATTTCTTACCTCAGT	0.542													4	64					0	0	0	0	G	191353419	C	G	191353419	3	3	509	1	0	0	0	0	1	0	0	0	9604	913	32	2	1677	2	MFSD6	2	191353419	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	7752377	191353419	51845954	39	98105											
NBEAL1	65065	broad.mit.edu	37	chr2	204000745	204000745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaattgtctttcaaatcaGagaatcaagaggaattctgg	15	11	10	5	0	5	3	3	0	2	3	5	6	5	4	0	2	0	0	0	2	5	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:204000745G>C	ENST00000449802.1	+	27	4405	c.4072G>C	c.(4072-4074)Gag>Cag	p.E1358Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1358							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTCAAATCAGAGAATCAAGA	0.413													5	60					0	0	0	0	C	204000745	G	C	204000745	3	2	509	1	0	0	0	0	1	0	0	0	10258	943	33	2	4174	2	NBEAL1	2	204000745	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	12647326	204000745	39198628	40	98106											
NBEAL1	65065	broad.mit.edu	37	chr2	204073440	204073440	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtactgagtgtcggcatCagcactgagctagacatggc	10	8	14	9	1	1	3	1	2	0	1	2	4	1	3	0	3	3	4	0	3	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:204073440C>T	ENST00000449802.1	+	51	7833	c.7500C>T	c.(7498-7500)atC>atT	p.I2500I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2500							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTGTCGGCATCAGCACTGAGC	0.383													46	53					0	0	0	0	T	204073440	C	T	204073440	2	4	509	1	0	0	0	0	0	0	0	1	10258	816	29	2		2	NBEAL1	2	204073440	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	72695	204073440	39125933	41	98107											
PASK	23178	broad.mit.edu	37	chr2	242054512	242054512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctggggtggcggtcgatGaaagcgaagaggtctaggcc	9	6	18	8	3	1	2	0	1	1	1	2	4	1	2	2	6	2	0	2	6	3	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:242054512G>A	ENST00000403638.3	-	14	3370	c.3279C>T	c.(3277-3279)ttC>ttT	p.F1093F	PASK_ENST00000544142.1_Silent_p.F907F|PASK_ENST00000539818.1_Silent_p.F877F|PASK_ENST00000405260.1_Silent_p.F1093F|PASK_ENST00000234040.4_Silent_p.F1093F|PASK_ENST00000358649.4_Silent_p.F1093F	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1093	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGCGGTCGATGAAAGCGAAGA	0.552													31	46					0	0	0	0	A	242054512	G	A	242054512	2	1	509	1	0	0	0	0	0	0	0	1	11543	1281	45	2		2	PASK	2	242054512	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	37981072	242054512	1144861	42	98108											
HRH1	3269	broad.mit.edu	37	chr3	11300990	11300990	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaacatcctctacctgctCatgtccaagtggtcactggg	9	11	9	12	0	3	1	2	1	1	0	5	1	5	1	3	2	3	1	3	2	3	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:11300990C>G	ENST00000397056.1	+	3	458	c.267C>G	c.(265-267)ctC>ctG	p.L89L	HRH1_ENST00000438284.2_Silent_p.L89L|HRH1_ENST00000431010.2_Silent_p.L89L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	89					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTACCTGCTCATGTCCAAGT	0.557													23	120					0	0	0	0	G	11300990	C	G	11300990	2	3	509	1	0	0	0	0	0	0	0	1	7405	813	29	2		2	HRH1	3	11300990	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		11300990	186721440	43	98109											
GRIP2	80852	broad.mit.edu	37	chr3	14552981	14552981	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggctcccctcgtttcctgCtggccgctggagaaaaagag	8	8	13	12	2	0	2	0	0	0	2	3	3	2	2	4	3	1	4	4	3	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:14552981C>T	ENST00000273083.3	-	0	1791							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCGTTTCCTGCTGGCCGCTGG	0.617													9	17					0	0	0	0	T	14552981	C	T	14552981	1	4	509	0	1	0	0	0	0	0	0	0	6838	797	28	4		4	GRIP2	3	14552981	RNA	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	3251991	14552981	183469449	44	98110											
TRANK1	9881	broad.mit.edu	37	chr3	36873812	36873812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtagtcttctgggttcCtgtacacgtagaattgatca	8	16	9	8	1	4	2	1	1	3	1	5	2	5	2	1	1	1	4	1	1	4	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:36873812C>A	ENST00000429976.2	-	21	7377	c.7130G>T	c.(7129-7131)aGg>aTg	p.R2377M	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1827M|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1827M			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2377					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTGGGTTCCTGTACACGTA	0.478													38	36					2.26627e-22	2.58078e-22	1	0	A	36873812	C	A	36873812	3	1	509	1	0	0	0	0	1	0	0	0	16549	681	24	4	1659	4	TRANK1	3	36873812	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	22320831	36873812	161148618	45	98111											
SETD2	29072	broad.mit.edu	37	chr3	47144912	47144917	+	Splice_Site	DEL	ATCTGG	ATCTGG	-																															ctttttgagtggcatctattAtctgggagaagaggatcatt																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:47144912_47144917delATCTGG	ENST00000409792.3	-	7	4882_4883	c.4839_splice	c.e7-1	p.1614_splice		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1614	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGCATCTATTATCTGGGAGAAGAGGA	0.316			"N, F, S, Mis"		clear cell renal carcinoma								22	77	---	---	---	---					-	47144917	ATCTGG	-	47144912	8	5	509	1	0	1	0	1	0	0	1	0	14218	463	16	0	2913	0	SETD2	3	47144912	Splice_Site	DEL	ATCTGG	TCGA-WA-A7GZ-01A-11D-A34J-08	10271100	47144912	150877518	46	98112											
SHQ1	55164	broad.mit.edu	37	chr3	72890271	72890271	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggattcaaagcactttctgaTacctcttcacagggtgtctg	9	13	9	10	0	5	1	2	1	3	0	5	2	5	2	1	2	2	1	1	2	2	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:72890271T>C	ENST00000325599.8	-	4	550	c.411A>G	c.(409-411)gtA>gtG	p.V137V	SHQ1_ENST00000463369.1_Silent_p.V109V	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	137					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CACTTTCTGATACCTCTTCAC	0.408													36	44					0	0	0	0	C	72890271	T	C	72890271	2	2	509	1	0	0	0	0	0	0	0	1	14380	1393	49	5		5	SHQ1	3	72890271	Silent	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	25745359	72890271	125132159	47	98113											
PLXNA1	5361	broad.mit.edu	37	chr3	126707991	126707991	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagggccaggccaagctCttcgtgggcacacccatcga	8	5	13	15	2	1	0	0	0	1	0	3	1	1	0	4	4	1	2	4	4	1	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:126707991C>G	ENST00000393409.2	+	1	555	c.555C>G	c.(553-555)ctC>ctG	p.L185L	PLXNA1_ENST00000251772.4_Silent_p.L162L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	185	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCCAAGCTCTTCGTGGGCA	0.652													12	24					0	0	0	0	G	126707991	C	G	126707991	2	3	509	1	0	0	0	0	0	0	0	1	12191	900	32	2		2	PLXNA1	3	126707991	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	53817720	126707991	71314439	48	98114											
COL6A6	131873	broad.mit.edu	37	chr3	130368102	130368102	+	Frame_Shift_Del	DEL	G	G	-																															ctcctataactcccacgccaGgcaccttgtgcgcttctcag																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:130368102delG	ENST00000358511.6	+	32	5460	c.5429delG	c.(5428-5430)agfs	p.R1810fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.R1810fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1810	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCACGCCAGGCACCTTGTG	0.527													7	16	---	---	---	---					-	130368102	G	-	130368102	7	5	509	1	0	1	0	1	0	0	0	0	3733	1000	35	0	5555	0	COL6A6	3	130368102	Frame_Shift_Del	DEL	G	TCGA-WA-A7GZ-01A-11D-A34J-08	3660111	130368102	67654328	49	98115											
SLC25A36	55186	broad.mit.edu	37	chr3	140692718	140692718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtataaaacaaaaactaCtggaatataagactgcttct	20	10	5	6	0	1	1	0	0	1	1	1	2	1	2	0	1	4	2	0	1	10	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:140692718C>T	ENST00000446041.2	+	6	838	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	SLC25A36_ENST00000324194.6_Silent_p.L205L|SLC25A36_ENST00000453248.2_Silent_p.L179L	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	205					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						ACAAAAACTACTGGAATATAA	0.358													16	44					0	0	0	0	T	140692718	C	T	140692718	2	4	509	1	0	0	0	0	0	0	0	1	14588	564	20	4		4	SLC25A36	3	140692718	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	10324616	140692718	57329712	50	98116											
NAALADL2	254827	broad.mit.edu	37	chr3	174815058	174815068	+	Frame_Shift_Del	DEL	AGAAGATATTA	AGAAGATATTA	-																															attctcaagacaatccaggcAgaagatattaagaagtcttt																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:174815058_174815068delAGAAGATATTA	ENST00000454872.1	+	2	650_660	c.522_532delAGAAGATATTA	c.(520-534)gcagfs	p.AEDIK174fs	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	174					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAATCCAGGCAGAAGATATTAAGAAGTCTTT	0.374													17	145	---	---	---	---					-	174815068	AGAAGATATTA	-	174815058	7	5	509	1	0	1	0	1	0	0	0	0	10200	175	7	0	528	0	NAALADL2	3	174815058	Frame_Shift_Del	DEL	AGAAGATATTA	TCGA-WA-A7GZ-01A-11D-A34J-08	34122340	174815058	23207372	51	98117											
KIAA0226	9711	broad.mit.edu	37	chr3	197444966	197444966	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaaccctccaccgtcGtcttcaaattacccagcaac	13	8	3	17	2	2	0	1	0	1	0	4	0	3	0	5	0	5	1	5	0	5	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:197444966G>A	ENST00000273582.5	-	0	466				KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCACCGTCGTCTTCAAATT	0.502													4	90					0	0	0	0	A	197444966	G	A	197444966	1	1	509	1	0	0	0	0	0	0	0	0	8213	1145	40	1		1	KIAA0226	3	197444966	Translation_Start_Site	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	22629908	197444966	577464	52	98118											
POLR2B	5431	broad.mit.edu	37	chr4	57860682	57860682	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagattaaggaatctcaCgtaagaaagaatttttcctt	15	13	7	6	1	1	3	1	0	1	3	3	4	2	4	1	1	1	2	1	1	6	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:57860682C>G	ENST00000381227.1	+	5	769	c.356_splice	c.e5+1	p.T119_splice	POLR2B_ENST00000314595.5_Splice_Site_p.T119_splice|POLR2B_ENST00000441246.2_Splice_Site_p.T112_splice|POLR2B_ENST00000431623.2_Splice_Site_p.T44_splice			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	119					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II 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|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGGAATCTCACGTAAGAAAGA	0.353													11	26					0	0	0	0	G	57860682	C	G	57860682	5	3	509	1	0	0	0	0	0	0	1	0	12287	550	19	3	370	3	POLR2B	4	57860682	Splice_Site	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		57860682	133293594	53	98119											
UBA6	55236	broad.mit.edu	37	chr4	68527946	68527946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttatagatgttgctagtttCaacagttcttctgaatcttg	9	18	7	7	0	4	2	1	1	3	1	4	2	4	2	0	0	2	4	0	0	5	8			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:68527946C>G	ENST00000322244.4	-	13	1124	c.1065G>C	c.(1063-1065)ttG>ttC	p.L355F	UBA6_ENST00000420827.2_Missense_Mutation_p.L355F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	355					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTGCTAGTTTCAACAGTTCTT	0.333													6	90					0	0	0	0	G	68527946	C	G	68527946	3	3	509	1	0	0	0	0	1	0	0	0	16928	825	29	2	2177	2	UBA6	4	68527946	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	10667264	68527946	122626330	54	98120											
NPFFR2	10886	broad.mit.edu	37	chr4	72897781	72897781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtggagcaggcagtccGcgggggacagacgtcggctg	7	5	20	9	4	0	1	0	0	0	1	2	4	1	4	1	6	1	3	1	6	0	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:72897781G>A	ENST00000308744.6	+	1	261	c.163G>A	c.(163-165)Gcg>Acg	p.A55T	NPFFR2_ENST00000344413.5_Missense_Mutation_p.A55T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	55					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CAGGCAGTCCGCGGGGGACAG	0.677													14	23					0	0	0	0	A	72897781	G	A	72897781	3	1	509	1	0	0	0	0	1	0	0	0	10648	1087	38	1	165	1	NPFFR2	4	72897781	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	4369835	72897781	118256495	55	98121											
SEC31A	22872	broad.mit.edu	37	chr4	83801962	83801962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctcatacctgtgagaagAggagaatgtggcacaagatt	15	8	11	7	0	1	4	1	1	0	4	1	6	1	4	2	2	2	1	2	2	5	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:83801962A>G	ENST00000432794.1	-	3	356	c.193T>C	c.(193-195)Tct>Cct	p.S65P	SEC31A_ENST00000508479.1_Missense_Mutation_p.S65P|SEC31A_ENST00000513858.1_Missense_Mutation_p.S65P|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Missense_Mutation_p.S65P|SEC31A_ENST00000505984.1_Missense_Mutation_p.S65P|SEC31A_ENST00000500777.2_Missense_Mutation_p.S65P|SEC31A_ENST00000448323.1_Missense_Mutation_p.S65P|SEC31A_ENST00000443462.2_Missense_Mutation_p.S60P|SEC31A_ENST00000395310.2_Missense_Mutation_p.S65P|SEC31A_ENST00000355196.2_Missense_Mutation_p.S65P|SEC31A_ENST00000509142.1_Missense_Mutation_p.S65P|SEC31A_ENST00000348405.4_Missense_Mutation_p.S65P|SEC31A_ENST00000326950.5_Missense_Mutation_p.S65P|SEC31A_ENST00000508502.1_Missense_Mutation_p.S65P|SEC31A_ENST00000311785.7_Missense_Mutation_p.S65P			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	65					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTGTGAGAAGAGGAGAATGTG	0.328													39	81					0	0	0	0	G	83801962	A	G	83801962	3	3	509	1	0	0	0	0	1	0	0	0	14085	304	11	5	3569	5	SEC31A	4	83801962	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	10904181	83801962	107352314	56	98122											
IBSP	3381	broad.mit.edu	37	chr4	88732994	88732994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaccgagcctatgaagatGagtacagctactttaaagga	15	10	9	7	1	0	3	0	2	0	1	0	5	0	4	2	1	5	2	2	1	7	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:88732994G>C	ENST00000226284.5	+	7	953	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	296					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CTATGAAGATGAGTACAGCTA	0.463													10	58					0	0	0	0	C	88732994	G	C	88732994	3	2	509	1	0	0	0	0	1	0	0	0	7528	1291	45	2	908	2	IBSP	4	88732994	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	4931032	88732994	102421282	57	98123											
KIAA1109	84162	broad.mit.edu	37	chr4	123225996	123225996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatcaatgagagctgtaaGatttgaaactggattgattg	13	13	10	5	0	1	4	1	3	0	2	2	6	2	5	1	1	2	2	1	1	3	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:123225996G>A	ENST00000264501.4	+	56	9903	c.9530G>A	c.(9529-9531)aGa>aAa	p.R3177K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3177K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3177K			Q2LD37	K1109_HUMAN	KIAA1109	3177					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAGCTGTAAGATTTGAAACT	0.383													31	73					0	0	0	0	A	123225996	G	A	123225996	3	1	509	1	0	0	0	0	1	0	0	0	8259	942	33	2	9744	2	KIAA1109	4	123225996	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	34493002	123225996	67928280	58	98124											
FAT4	79633	broad.mit.edu	37	chr4	126238943	126238943	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcgctcttctgtggcAagcctggtgatttttgttaa	6	14	12	9	2	2	1	0	1	2	0	2	1	2	1	1	3	1	3	1	3	2	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:126238943A>T	ENST00000394329.3	+	1	1390	c.1377A>T	c.(1375-1377)gcA>gcT	p.A459A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	459	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCTGTGGCAAGCCTGGTGA	0.567											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	0	0	T	126238943	A	T	126238943	2	4	509	1	0	0	0	0	0	0	0	1	5737	117	5	5		5	FAT4	4	126238943	Silent	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	3012947	126238943	64915333	59	98125											
NEK1	4750	broad.mit.edu	37	chr4	170354802	170354802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcttgtagaatttctgtttCcaaatcatcaggttctgcaa	10	16	6	9	0	5	1	2	0	3	1	6	1	6	1	1	1	1	4	1	1	4	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:170354802C>G	ENST00000439128.2	-	27	3335	c.2695G>C	c.(2695-2697)Gaa>Caa	p.E899Q	NEK1_ENST00000510533.1_Missense_Mutation_p.E855Q|NEK1_ENST00000511633.1_Missense_Mutation_p.E883Q|NEK1_ENST00000512193.1_Missense_Mutation_p.E830Q|NEK1_ENST00000507142.1_Missense_Mutation_p.E927Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	899					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATTTCTGTTTCCAAATCATCA	0.353													13	52					0	0	0	0	G	170354802	C	G	170354802	3	3	509	1	0	0	0	0	1	0	0	0	10391	864	30	2	1113	2	NEK1	4	170354802	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	44115859	170354802	20799474	60	98126											
FAT1	2195	broad.mit.edu	37	chr4	187522473	187522490	+	In_Frame_Del	DEL	TGGAATATGTTCTGAGCC	TGGAATATGTTCTGAGCC	-																															atacatgacaaccgcatgcgTggaatatgttctgagcctca																								rs79448797		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:187522473_187522490delTGGAATATGTTCTGAGCC	ENST00000441802.2	-	21	11782_11799	c.11573_11590delGGCTCAGAACATATTCCA	c.(11572-11592)acg>a	p.RLRTYST3858del		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3858	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGCATGCGTGGAATATGTTCTGAGCCTCATGGTCAG	0.427										HNSCC(5;0.00058)			11	35	---	---	---	---					-	187522490	TGGAATATGTTCTGAGCC	-	187522473	7	5	509	1	0	1	0	1	0	0	0	0	5734	1696	59	0	2204	0	FAT1	4	187522473	In_Frame_Del	DEL	TGGAATATGTTCTGAGCC	TCGA-WA-A7GZ-01A-11D-A34J-08	17167671	187522473	3631803	61	98127											
SLC12A7	10723	broad.mit.edu	37	chr5	1064267	1064267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcacgatccaccacacgtcGatgtggcccccgccgaagcg	8	5	11	17	6	0	0	0	0	0	0	2	3	1	0	5	1	2	1	5	1	1	0	rs76539639	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:1064267G>C	ENST00000264930.5	-	19	2581	c.2538C>G	c.(2536-2538)atC>atG	p.I846M		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	846					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			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)	ACCACACGTCGATGTGGCCCC	0.687													14	51					0	0	0	0	C	1064267	G	C	1064267	3	2	509	1	0	0	0	0	1	0	0	0	14476	1048	37	3	737	3	SLC12A7	5	1064267	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08		1064267	179850993	62	98128											
HCN1	348980	broad.mit.edu	37	chr5	45303855	45303855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcaaatctcaacttgctCagcatggcagtcacaaaatt	14	10	5	12	0	4	0	4	0	1	0	5	0	4	0	1	1	3	3	1	1	4	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:45303855C>T	ENST00000303230.4	-	6	1521	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	488						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCAACTTGCTCAGCATGGCAG	0.418													41	152					0	0	0	0	T	45303855	C	T	45303855	2	4	509	1	0	0	0	0	0	0	0	1	7046	813	29	2		2	HCN1	5	45303855	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	44239588	45303855	135611405	63	98129											
GFM2	84340	broad.mit.edu	37	chr5	74046424	74046424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctacaccagcagaggcatCaaatacagccactgcaccat	14	6	6	15	0	2	1	1	0	1	1	2	1	2	1	3	1	5	3	3	1	3	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:74046424C>G	ENST00000296805.3	-	7	956	c.499G>C	c.(499-501)Gat>Cat	p.D167H	GFM2_ENST00000509430.1_Missense_Mutation_p.D167H|GFM2_ENST00000345239.2_Missense_Mutation_p.D167H|GFM2_ENST00000427854.2_Missense_Mutation_p.D167H	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	167					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCAGAGGCATCAAATACAGCC	0.378													10	22					0	0	0	0	G	74046424	C	G	74046424	3	3	509	1	0	0	0	0	1	0	0	0	6393	826	29	2	1932	2	GFM2	5	74046424	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	28742569	74046424	106868836	64	98130											
MEF2C	4208	broad.mit.edu	37	chr5	88056904	88056904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcataagaggagtcgggatcGgggctttcacagcctttgtt	8	11	14	8	2	1	1	1	0	0	1	3	3	1	3	1	4	1	3	1	4	1	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:88056904G>A	ENST00000340208.5	-	6	762	c.357C>T	c.(355-357)ccC>ccT	p.P119P	MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000424173.2_Silent_p.P99P|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000503554.1_Intron	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	101					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGTCGGGATCGGGGCTTTCAC	0.373										HNSCC(66;0.2)			26	35					0	0	0	0	A	88056904	G	A	88056904	2	1	509	1	0	0	0	0	0	0	0	1	9526	1103	39	1		1	MEF2C	5	88056904	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	14010480	88056904	92858356	65	98131											
RIOK2	55781	broad.mit.edu	37	chr5	96503502	96503502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattcttctagacagttccGttcactttcattttctgacc	7	18	5	11	1	5	3	2	2	3	1	6	3	6	3	2	0	0	2	2	0	1	8			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:96503502G>A	ENST00000283109.3	-	8	1134	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	RIOK2_ENST00000508447.1_Missense_Mutation_p.R356W|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	356	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R356W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AGACAGTTCCGTTCACTTTCA	0.403													46	88					0	0	0	0	A	96503502	G	A	96503502	3	1	509	1	0	0	0	0	1	0	0	0	13463	1144	40	1	632	1	RIOK2	5	96503502	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	8446598	96503502	84411758	66	98132											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712045	140712045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggtggacagagactcGggccagaacgcctggctgtc	7	6	17	11	3	0	2	0	0	0	2	2	4	0	3	2	5	1	1	2	5	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:140712045G>A	ENST00000517417.1	+	1	1794	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	PCDHGA1_ENST00000378105.3_Silent_p.S598S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACTCGGGCCAGAACG	0.706													42	39					0	0	0	0	A	140712045	G	A	140712045	2	1	509	1	0	0	0	0	0	0	0	1	11621	1103	39	1		1	PCDHGA1	5	140712045	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	44208543	140712045	40203215	67	98133											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773323	140773323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatgaagaatgttcatttTatgaaatggaaatacaagcc	17	13	7	4	0	1	3	1	2	0	1	1	4	1	4	1	1	2	1	1	1	8	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:140773323T>C	ENST00000398604.2	+	1	943	c.943T>C	c.(943-945)Tat>Cat	p.Y315H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTCATTTTATGAAATGGA	0.368													50	70					0	0	0	0	C	140773323	T	C	140773323	3	2	509	1	0	0	0	0	1	0	0	0	11631	1754	61	5	945	5	PCDHGA8	5	140773323	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	61278	140773323	40141937	68	98134											
GFPT2	9945	broad.mit.edu	37	chr5	179763530	179763530	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccccttttcttgaccagctGaatgtgtctttctttgactt	5	18	6	12	0	3	3	0	3	3	0	3	3	3	3	3	0	1	1	3	0	1	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:179763530G>A	ENST00000253778.8	-	3	332	c.163C>T	c.(163-165)Cag>Tag	p.Q55*		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	55	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTGACCAGCTGAATGTGTCTT	0.488													17	241					0	0	0	0	A	179763530	G	A	179763530	4	1	509	1	0	0	0	0	0	1	0	0	6397	1299	45	2	1953	2	GFPT2	5	179763530	Nonsense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	38990207	179763530	1151730	69	98135											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017379	26017379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcaccctagccttggcCgccttgggttttacagcctt	4	14	9	14	2	1	0	1	0	0	0	2	0	1	0	5	2	3	1	5	2	2	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:26017379C>T	ENST00000244573.3	-	1	661	c.582G>A	c.(580-582)gcG>gcA	p.A194A		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	194					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TAGCCTTGGCCGCCTTGGGTT	0.448													16	190					0	0	0	0	T	26017379	C	T	26017379	2	4	509	1	0	0	0	0	0	0	0	1	7172	639	23	1		1	HIST1H1A	6	26017379	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		26017379	145097688	70	98136											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100220	27100220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcttggccaactccccagGcagcagcaggcgcacggccg	7	4	14	16	3	0	0	0	0	0	0	1	0	1	0	4	4	4	5	4	4	1	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:27100220G>A	ENST00000607124.1	-	1	309	c.310C>T	c.(310-312)Cct>Tct	p.P104S	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P104S|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P104S			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	104					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						AACTCCCCAGGCAGCAGCAGG	0.602													54	103					0	0	0	0	A	27100220	G	A	27100220	3	1	509	1	0	0	0	0	1	0	0	0	7199	1203	42	4	74	4	HIST1H2BJ	6	27100220	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	1082841	27100220	144014847	71	98137											
LTA	4049	broad.mit.edu	37	chr6	31540721	31540721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaggggctccctggtgttgGcctcacaccttcagctgccc	4	10	11	16	0	2	0	2	0	0	0	3	0	3	0	4	4	2	3	4	4	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:31540721G>A	ENST00000454783.1	+	3	374	c.116G>A	c.(115-117)gGc>gAc	p.G39D	LTA_ENST00000418386.2_Missense_Mutation_p.G39D	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	39					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCTGGTGTTGGCCTCACACCT	0.607													4	38					0	0	0	0	A	31540721	G	A	31540721	3	1	509	1	0	0	0	0	1	0	0	0	9132	1203	42	4	122	4	LTA	6	31540721	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	4440501	31540721	139574346	72	98138											
NEU1	4758	broad.mit.edu	37	chr6	31827528	31827528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagacactgattttggccaCggagatgctctctgtgtagt	9	13	11	8	1	1	3	0	1	1	2	2	4	1	3	1	2	1	2	1	2	2	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:31827528C>T	ENST00000375631.4	-	6	1345	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	406						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	ATTTTGGCCACGGAGATGCTC	0.582													39	77					0	0	0	0	T	31827528	C	T	31827528	3	4	509	1	0	0	0	0	1	0	0	0	10411	536	19	1	35	1	NEU1	6	31827528	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	286807	31827528	139287539	73	98139											
RING1	6015	broad.mit.edu	37	chr6	33179753	33179753	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcagtacaccatctacAtcgcacctggaggcggggcg	12	5	12	12	3	1	0	0	0	1	0	2	1	1	1	2	4	3	3	2	4	4	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:33179753A>T	ENST00000374656.4	+	6	1301	c.1093A>T	c.(1093-1095)Atc>Ttc	p.I365F	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	365	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CACCATCTACATCGCACCTGG	0.637													7	8					0	0	0	0	T	33179753	A	T	33179753	3	4	509	1	0	0	0	0	1	0	0	0	13459	217	8	5	1111	5	RING1	6	33179753	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	1352225	33179753	137935314	74	98140											
RPL10A	4736	broad.mit.edu	37	chr6	35436775	35436775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaagaactatgatccccaGaaggacaagcgcttctcggg	12	8	11	10	2	1	4	0	2	1	2	3	5	2	5	2	2	2	1	2	2	5	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:35436775G>A	ENST00000322203.6	+	3	159	c.132G>A	c.(130-132)caG>caA	p.Q44Q	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	44					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						ATGATCCCCAGAAGGACAAGC	0.652													12	38					0	0	0	0	A	35436775	G	A	35436775	2	1	509	1	0	0	0	0	0	0	0	1	13640	933	33	2		2	RPL10A	6	35436775	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	2257022	35436775	135678292	75	98141											
SLC29A1	2030	broad.mit.edu	37	chr6	44195012	44195012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcaggcccctgagggaGggagctgtcagccagggaaa	10	3	16	12	0	1	1	1	1	0	0	1	4	1	4	4	4	3	2	4	4	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:44195012G>A	ENST00000313248.7	+	3	260	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	SLC29A1_ENST00000393844.1_5'UTR|SLC29A1_ENST00000393841.1_5'UTR|SLC29A1_ENST00000371740.5_5'UTR|SLC29A1_ENST00000371713.1_5'UTR|SLC29A1_ENST00000427851.2_5'UTR|SLC29A1_ENST00000371708.1_5'UTR|SLC29A1_ENST00000371755.3_5'UTR|SLC29A1_ENST00000371731.1_5'UTR|SLC29A1_ENST00000371724.1_5'UTR			Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	0					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CCCTGAGGGAGGGAGCTGTCA	0.637													8	19					0	0	0	0	A	44195012	G	A	44195012	3	1	509	1	0	0	0	0	1	0	0	0	14622	1015	35	4		4	SLC29A1	6	44195012	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	8758237	44195012	126920055	76	98142											
TNFRSF21	27242	broad.mit.edu	37	chr6	47251887	47251887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatgctcattgatgtcaaAatgcttgtgtaggttctgtc	10	15	9	7	0	3	1	2	1	1	0	4	1	3	1	0	1	2	4	0	1	4	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:47251887A>G	ENST00000296861.2	-	3	1423	c.1030T>C	c.(1030-1032)Ttt>Ctt	p.F344L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	344					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TTGATGTCAAAATGCTTGTGT	0.547													25	134					0	0	0	0	G	47251887	A	G	47251887	3	3	509	1	0	0	0	0	1	0	0	0	16389	14	1	5	953	5	TNFRSF21	6	47251887	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	3056875	47251887	123863180	77	98143											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611200	62611200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctgcctctaatacctctgCcacgaccagagtcctctgag	8	10	7	16	1	4	2	0	1	4	1	5	3	5	2	5	0	3	0	5	0	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:62611200C>G	ENST00000281156.4	-	5	838	c.560G>C	c.(559-561)gGc>gCc	p.G187A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATACCTCTGCCACGACCAGA	0.408													14	82					0	0	0	0	G	62611200	C	G	62611200	3	3	509	1	0	0	0	0	1	0	0	0	8198	739	26	4	509	4	KHDRBS2	6	62611200	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	15359313	62611200	108503867	78	98144											
TPBG	7162	broad.mit.edu	37	chr6	83074698	83074698	+	Frame_Shift_Del	DEL	G	G	-																															gatgcctggggggtgctcccGgggccccgccgccggggacg																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:83074698delG	ENST00000369750.3	+	2	637	c.20delG	c.(19-21)cgfs	p.R7fs	TPBG_ENST00000535040.1_Frame_Shift_Del_p.R7fs|TPBG_ENST00000543496.1_Frame_Shift_Del_p.R7fs			Q13641	TPBG_HUMAN	trophoblast glycoprotein	7					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GGGTGCTcccggggccccgcc	0.766													2	4	---	---	---	---					-	83074698	G	-	83074698	7	5	509	1	0	1	0	1	0	0	0	0	16489	1116	39	0	22	0	TPBG	6	83074698	Frame_Shift_Del	DEL	G	TCGA-WA-A7GZ-01A-11D-A34J-08	20463498	83074698	88040369	79	98145											
ANKRD6	22881	broad.mit.edu	37	chr6	90331647	90331647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcctccttcaggtcttgCgcttcagtcgtgggcgaagc	4	13	12	12	3	3	0	2	0	1	0	5	1	4	0	2	2	3	1	2	2	1	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:90331647C>T	ENST00000522441.1	+	10	1440	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	LYRM2_ENST00000520441.1_Missense_Mutation_p.R75H|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R267C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R267C|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R208C|ANKRD6_ENST00000369408.5_Intron	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	267							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TCAGGTCTTGCGCTTCAGTCG	0.542													24	21					0	0	0	0	T	90331647	C	T	90331647	3	4	509	1	0	0	0	0	1	0	0	0	684	768	27	1	833	1	ANKRD6	6	90331647	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	7256949	90331647	80783420	80	98146											
AIM1	202	broad.mit.edu	37	chr6	106969284	106969284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaatcaagccggtatGacccaagcatttctttttct	10	16	5	10	1	4	1	2	1	2	0	4	1	4	1	2	1	2	2	2	1	4	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:106969284G>T	ENST00000369066.3	+	2	3464	c.2977G>T	c.(2977-2979)Gac>Tac	p.D993Y		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	993							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGCCGGTATGACCCAAGCAT	0.358													23	82					5.61819e-17	6.32046e-17	1	0	T	106969284	G	T	106969284	3	4	509	1	0	0	0	0	1	0	0	0	430	1290	45	2	2983	2	AIM1	6	106969284	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	16637637	106969284	64145783	81	98147											
VNN2	8875	broad.mit.edu	37	chr6	133078596	133078596	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagttcacctgagggtcTgggatatcctccagataagg	10	10	11	10	0	2	2	1	1	1	1	5	3	5	3	4	3	0	1	4	3	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:133078596T>A	ENST00000326499.6	-	2	427	c.303A>T	c.(301-303)ccA>ccT	p.P101P	VNN2_ENST00000525270.1_Silent_p.P48P|VNN2_ENST00000525289.1_Silent_p.P101P|VNN2_ENST00000526192.1_5'UTR	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	101	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCTGAGGGTCTGGGATATCCT	0.433													25	54					0	0	0	0	A	133078596	T	A	133078596	2	1	509	1	0	0	0	0	0	0	0	1	17279	1567	55	5		5	VNN2	6	133078596	Silent	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	26109312	133078596	38036471	82	98148											
UTRN	7402	broad.mit.edu	37	chr6	144808721	144808721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccacccggcagataatcGcacccagattcgagagcttg	10	6	11	14	4	0	3	0	0	0	3	2	4	0	3	3	1	1	3	3	1	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:144808721G>A	ENST00000367545.3	+	28	3860	c.3860G>A	c.(3859-3861)cGc>cAc	p.R1287H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1287					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGATAATCGCACCCAGATT	0.448													34	66					0	0	0	0	A	144808721	G	A	144808721	3	1	509	1	0	0	0	0	1	0	0	0	17199	1087	38	1	3970	1	UTRN	6	144808721	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	11730125	144808721	26306346	83	98149											
GRM1	2911	broad.mit.edu	37	chr6	146755545	146755545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacgggctgcggtccctgtaCccgcccccgccacctccgca	5	5	10	21	5	0	0	0	0	0	0	2	0	2	0	7	2	3	3	7	2	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:146755545C>T	ENST00000361719.2	+	9	3668	c.3198C>T	c.(3196-3198)taC>taT	p.Y1066Y	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Silent_p.Y1066Y|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1066					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGTCCCTGTACCCGCCCCCGC	0.692													16	58					0	0	0	0	T	146755545	C	T	146755545	2	4	509	1	0	0	0	0	0	0	0	1	6846	518	18	4		4	GRM1	6	146755545	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	1946824	146755545	24359522	84	98150											
ARID1B	57492	broad.mit.edu	37	chr6	157521890	157521890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccccagccaagcgccacGagggcgacatgtacaacatg	11	3	12	15	3	0	0	0	0	0	0	0	2	0	0	4	2	4	1	4	2	3	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:157521890G>A	ENST00000346085.5	+	18	4163	c.4162G>A	c.(4162-4164)Gag>Aag	p.E1388K	ARID1B_ENST00000350026.5_Missense_Mutation_p.E1375K|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1428K|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1370K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1375					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGCGCCACGAGGGCGACAT	0.552													26	109					0	0	0	0	A	157521890	G	A	157521890	3	1	509	1	0	0	0	0	1	0	0	0	916	1059	37	1	4232	1	ARID1B	6	157521890	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	10766345	157521890	13593177	85	98151											
PAPOLB	56903	broad.mit.edu	37	chr7	4900494	4900494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgggtatgctggtgtgatGataggcataagatggtacct	9	13	15	4	0	0	3	0	2	0	1	0	3	0	3	1	4	2	4	1	4	4	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:4900494G>A	ENST00000404991.1	-	1	1131	c.945C>T	c.(943-945)atC>atT	p.I315I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	315					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGGTGTGATGATAGGCATAA	0.453													5	141					0	0	0	0	A	4900494	G	A	4900494	2	1	509	1	0	0	0	0	0	0	0	1	11501	1280	45	2		2	PAPOLB	7	4900494	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08		4900494	154238169	86	98152											
TNRC18	84629	broad.mit.edu	37	chr7	5410492	5410492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtcagctgcacccccaGgtccagggcggcggtgcagg	5	5	18	13	2	1	0	1	0	0	0	2	0	2	0	3	6	3	3	3	6	0	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:5410492G>A	ENST00000399537.4	-	11	4081	c.3733C>T	c.(3733-3735)Ctg>Ttg	p.L1245L	TNRC18_ENST00000430969.1_Silent_p.L1245L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1245							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCACCCCCAGGTCCAGGGCG	0.692													14	22					0	0	0	0	A	5410492	G	A	5410492	2	1	509	1	0	0	0	0	0	0	0	1	16433	991	35	4		4	TNRC18	7	5410492	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	509998	5410492	153728171	87	98153											
THSD7A	221981	broad.mit.edu	37	chr7	11441590	11441590	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccagtccttcaaataacAgtcacctgtaaaacacatat	17	9	4	11	0	2	1	2	0	0	1	3	1	3	1	3	0	2	1	3	0	5	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:11441590A>T	ENST00000423059.3	-	23	4494	c.4243T>A	c.(4243-4245)Tgt>Agt	p.C1415S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1415	TSP type-1 15.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCAAATAACAGTCACCTGTA	0.448										HNSCC(18;0.044)			17	61					0	0	0	0	T	11441590	A	T	11441590	3	4	509	1	0	0	0	0	1	0	0	0	15973	188	7	5	754	5	THSD7A	7	11441590	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	6031098	11441590	147697073	88	98154											
CCDC126	90693	broad.mit.edu	37	chr7	23651052	23651052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttcaacaaccaagacatCaaagcagtgtcaagttacgt	15	10	6	10	1	3	1	3	0	0	1	3	1	3	1	1	0	4	2	1	0	6	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:23651052C>G	ENST00000307471.3	+	3	575	c.118C>G	c.(118-120)Caa>Gaa	p.Q40E	CCDC126_ENST00000410069.1_Missense_Mutation_p.Q40E|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000409765.1_Missense_Mutation_p.Q40E	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	40						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						ACCAAGACATCAAAGCAGTGT	0.368													6	129					0	0	0	0	G	23651052	C	G	23651052	3	3	509	1	0	0	0	0	1	0	0	0	2787	827	29	2	120	2	CCDC126	7	23651052	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	12209462	23651052	135487611	89	98155											
OGDH	4967	broad.mit.edu	37	chr7	44741199	44741199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaggccagatccagctttGatgagatgcttccaggtggg	8	9	14	10	1	0	3	0	2	0	2	2	5	2	3	4	3	2	2	4	3	0	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:44741199G>C	ENST00000222673.5	+	20	2659	c.2617G>C	c.(2617-2619)Gat>Cat	p.D873H	OGDH_ENST00000449767.1_Missense_Mutation_p.D869H|OGDH_ENST00000439616.2_Missense_Mutation_p.D723H|OGDH_ENST00000447398.1_Missense_Mutation_p.D884H|OGDH_ENST00000543843.1_Missense_Mutation_p.D824H|OGDH_ENST00000444676.1_Missense_Mutation_p.D888H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	873					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ATCCAGCTTTGATGAGATGCT	0.498													13	36					0	0	0	0	C	44741199	G	C	44741199	3	2	509	1	0	0	0	0	1	0	0	0	10910	1290	45	2	2864	2	OGDH	7	44741199	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	21090147	44741199	114397464	90	98156											
ABCA13	154664	broad.mit.edu	37	chr7	48559723	48559723	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggactggtagaactctgCtataatcagatcaaatatga	16	10	8	7	0	3	3	2	1	1	2	3	4	3	4	0	2	2	2	0	2	7	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:48559723C>A	ENST00000435803.1	+	53	13908	c.13884C>A	c.(13882-13884)tgC>tgA	p.C4628*	ABCA13_ENST00000544596.1_Nonsense_Mutation_p.C358*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4628					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGAACTCTGCTATAATCAGA	0.413													8	36					1.12685e-05	1.20456e-05	1	0	A	48559723	C	A	48559723	4	1	509	1	0	0	0	0	0	1	0	0	31	805	28	4	13923	4	ABCA13	7	48559723	Nonsense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	3818524	48559723	110578940	91	98157											
PHKG1	5260	broad.mit.edu	37	chr7	56154697	56154697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaagaaagtgttggtctCataagtgtccttcagctgta	12	12	11	6	0	2	2	2	0	1	2	4	3	3	2	1	1	1	3	1	1	5	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:56154697C>T	ENST00000452681.2	-	4	432	c.283G>A	c.(283-285)Gag>Aag	p.E95K	PHKG1_ENST00000297373.2_Missense_Mutation_p.E95K|PHKG1_ENST00000537360.1_Intron|PHKG1_ENST00000489604.1_5'UTR	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	95	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGTTGGTCTCATAAGTGTCC	0.572													34	68					0	0	0	0	T	56154697	C	T	56154697	3	4	509	1	0	0	0	0	1	0	0	0	11918	835	29	2	908	2	PHKG1	7	56154697	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	7594974	56154697	102983966	92	98158											
GRM3	2913	broad.mit.edu	37	chr7	86416063	86416063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgagcatgtggcctacGgcgccatcaccctggagctg	7	6	14	14	3	1	0	1	0	0	0	1	2	1	1	3	3	4	3	3	3	1	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:86416063G>A	ENST00000361669.2	+	3	2054	c.955G>A	c.(955-957)Ggc>Agc	p.G319S	GRM3_ENST00000394720.2_Missense_Mutation_p.G317S|GRM3_ENST00000536043.1_Missense_Mutation_p.G191S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.G319S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	319					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTGGCCTACGGCGCCATCAC	0.672													16	43					0	0	0	0	A	86416063	G	A	86416063	3	1	509	1	0	0	0	0	1	0	0	0	6848	1116	39	1	961	1	GRM3	7	86416063	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	30261366	86416063	72722600	93	98159											
ZNF804B	219578	broad.mit.edu	37	chr7	88963981	88963981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacagtgattctgagccaaAtaagagtgaatatactttca	15	12	7	7	0	2	4	1	3	1	1	2	4	2	4	1	0	3	0	1	0	6	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:88963981A>G	ENST00000333190.4	+	4	2294	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	562						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTGAGCCAAATAAGAGTGAA	0.353										HNSCC(36;0.09)			27	59					0	0	0	0	G	88963981	A	G	88963981	3	3	509	1	0	0	0	0	1	0	0	0	18264	101	4	5	1699	5	ZNF804B	7	88963981	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	2547918	88963981	70174682	94	98160											
LRRN3	54674	broad.mit.edu	37	chr7	110763396	110763396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttgatgctcttccaaatCtagagattctgatgattggg	9	15	11	6	0	3	4	0	3	3	1	4	5	4	4	1	2	1	2	1	2	2	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:110763396C>G	ENST00000451085.1	+	4	1614	c.568C>G	c.(568-570)Cta>Gta	p.L190V	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L190V|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L190V|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	190						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTTCCAAATCTAGAGATTCT	0.373													27	82					0	0	0	0	G	110763396	C	G	110763396	3	3	509	1	0	0	0	0	1	0	0	0	9100	912	32	2	570	2	LRRN3	7	110763396	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	21799415	110763396	48375267	95	98161											
LRRN3	54674	broad.mit.edu	37	chr7	110764692	110764692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctgatcaaaaagagtatGaaaagaataataccacaaca	22	6	5	8	0	1	4	1	2	0	2	1	4	1	4	2	0	2	1	2	0	9	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:110764692G>A	ENST00000451085.1	+	4	2910	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.E622K|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.E622K|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	622						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAAGAGTATGAAAAGAATAA	0.378													15	49					0	0	0	0	A	110764692	G	A	110764692	3	1	509	1	0	0	0	0	1	0	0	0	9100	1291	45	2	1866	2	LRRN3	7	110764692	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	1296	110764692	48373971	96	98162											
CFTR	1080	broad.mit.edu	37	chr7	117232542	117232542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcctgaacctgatgaCacactcagttaaccaaggtc	11	10	8	12	0	2	3	1	3	1	0	4	3	3	3	3	1	2	1	3	1	3	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:117232542C>T	ENST00000003084.6	+	14	2453	c.2321C>T	c.(2320-2322)aCa>aTa	p.T774I	CFTR_ENST00000454343.1_Missense_Mutation_p.T713I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	774					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACCTGATGACACACTCAGTT	0.527									Cystic Fibrosis				4	41					0	0	0	0	T	117232542	C	T	117232542	3	4	509	1	0	0	0	0	1	0	0	0	3323	478	17	4	2375	4	CFTR	7	117232542	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	6467850	117232542	41906121	97	98163											
FEZF1	389549	broad.mit.edu	37	chr7	121943748	121943748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattaggagagcctcggctGaaatccgaggttttgaacgc	10	9	13	9	3	0	3	0	2	0	1	2	5	1	3	2	3	2	3	2	3	3	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:121943748G>A	ENST00000442488.2	-	1	811	c.744C>T	c.(742-744)ttC>ttT	p.F248F	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.F198F|FEZF1_ENST00000331178.4_Silent_p.F248F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	248					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AGCCTCGGCTGAAATCCGAGG	0.493													50	75					0	0	0	0	A	121943748	G	A	121943748	2	1	509	1	0	0	0	0	0	0	0	1	5870	1281	45	2		2	FEZF1	7	121943748	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	4711206	121943748	37194915	98	98164											
MGAM	8972	broad.mit.edu	37	chr7	141708351	141708351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagatcctgggacaactgGtaccccagatcctggaacaa	12	6	9	14	0	0	2	0	0	0	2	2	4	2	4	5	3	3	1	5	3	4	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:141708351G>A	ENST00000475668.2	+	3	227	c.173G>A	c.(172-174)gGt>gAt	p.G58D	MGAM_ENST00000549489.2_Missense_Mutation_p.G58D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	58	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGACAACTGGTACCCCAGAT	0.478													6	15					0	0	0	0	A	141708351	G	A	141708351	3	1	509	1	0	0	0	0	1	0	0	0	9610	1261	44	4	179	4	MGAM	7	141708351	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	19764603	141708351	17430312	99	98165											
XKR5	389610	broad.mit.edu	37	chr8	6690390	6690390	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccccacagaagccgtcCtgtggtgaagtagtaagcca	11	6	10	14	1	0	2	0	1	0	1	1	2	1	2	6	1	2	2	6	1	4	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:6690390C>A	ENST00000518724.1	-	0	241							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGAAGCCGTCCTGTGGTGAAG	0.597													12	10					3.07112e-06	3.30827e-06	1	0	A	6690390	C	A	6690390	1	1	509	0	1	0	0	0	0	0	0	0	17530	690	24	4		4	XKR5	8	6690390	RNA	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		6690390	139673632	100	98166											
USP17L2	377630	broad.mit.edu	37	chr8	11994707	11994707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcagagccctcttgctGtgtttgttcttccctttgga	6	15	9	11	0	2	1	0	0	2	1	3	2	3	2	2	1	3	4	2	1	1	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:11994707G>T	ENST00000333796.3	-	1	1879	c.1563C>A	c.(1561-1563)caC>caA	p.H521Q	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	521					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCCTCTTGCTGTGTTTGTTCT	0.562													35	139					6.45866e-13	7.20786e-13	1	0	T	11994707	G	T	11994707	3	4	509	1	0	0	0	0	1	0	0	0	17144	1368	48	4	33	4	USP17L2	8	11994707	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	5304317	11994707	134369315	101	98167											
LOXL2	4017	broad.mit.edu	37	chr8	23174465	23174465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggaggagctctcactttCtgagcaggcaactccggccc	8	7	13	13	1	2	1	1	1	2	0	4	3	3	3	2	5	3	3	2	5	1	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:23174465C>T	ENST00000389131.3	-	9	2002	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	545					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTCTCACTTTCTGAGCAGGCA	0.662													5	17					0	0	0	0	T	23174465	C	T	23174465	3	4	509	1	0	0	0	0	1	0	0	0	8964	922	32	2	715	2	LOXL2	8	23174465	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	11179758	23174465	123189557	102	98168											
ANK1	286	broad.mit.edu	37	chr8	41550658	41550658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgaagttggcgcactcGttggcatatacaagtttggt	8	13	14	6	2	0	1	0	1	0	0	1	1	0	1	0	4	1	5	0	4	4	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:41550658G>A	ENST00000396942.1	-	30	3677	c.3594C>T	c.(3592-3594)aaC>aaT	p.N1198N	ANK1_ENST00000396945.1_Silent_p.N1198N|ANK1_ENST00000379758.2_Silent_p.N1198N|ANK1_ENST00000265709.8_Silent_p.N1239N|ANK1_ENST00000352337.4_Silent_p.N1198N|ANK1_ENST00000289734.7_Silent_p.N1198N|ANK1_ENST00000347528.4_Silent_p.N1198N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1198					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCGCACTCGTTGGCATATA	0.567													40	139					0	0	0	0	A	41550658	G	A	41550658	2	1	509	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41550658	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	18376193	41550658	104813364	103	98169											
CYP7B1	9420	broad.mit.edu	37	chr8	65517355	65517355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgagagtcaaatcctcctCaacaaaacgaatggtggttg	14	9	9	9	1	2	1	2	1	0	1	4	3	4	1	2	2	2	1	2	2	5	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:65517355C>G	ENST00000310193.3	-	5	1290	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	373					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAATCCTCCTCAACAAAACGA	0.438													5	47					0	0	0	0	G	65517355	C	G	65517355	3	3	509	1	0	0	0	0	1	0	0	0	4229	835	29	2	411	2	CYP7B1	8	65517355	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	23966697	65517355	80846667	104	98170											
DCAF13	25879	broad.mit.edu	37	chr8	104427338	104427338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggagactctagtactgaGggggcaagaacggggcacag	11	4	17	9	2	1	3	0	1	1	2	1	4	1	3	1	5	2	3	1	5	4	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:104427338G>A	ENST00000297579.5	+	1	397	c.120G>A	c.(118-120)gaG>gaA	p.E40E		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTAGTACTGAGGGGGCAAGAA	0.667													21	46					0	0	0	0	A	104427338	G	A	104427338	2	1	509	1	0	0	0	0	0	0	0	1	4299	991	35	4		4	DCAF13	8	104427338	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	38909983	104427338	41936684	105	98171											
TRPS1	7227	broad.mit.edu	37	chr8	116632271	116632271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtttctcagaggggggttCtttttccggaccatatctgc	6	14	11	10	2	3	1	1	0	3	1	5	2	4	2	2	4	1	2	2	4	1	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:116632271C>G	ENST00000395715.3	-	3	631	c.54G>C	c.(52-54)aaG>aaC	p.K18N	TRPS1_ENST00000520276.1_Missense_Mutation_p.K9N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K5N|TRPS1_ENST00000220888.5_Missense_Mutation_p.K5N|TRPS1_ENST00000519076.1_Missense_Mutation_p.K5N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	5					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K5N(1)|p.K5K(1)|p.K18K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGGGGGGTTCTTTTTCCGGA	0.413									Langer-Giedion syndrome				26	53					0	0	0	0	G	116632271	C	G	116632271	3	3	509	1	0	0	0	0	1	0	0	0	16688	912	32	2	3850	2	TRPS1	8	116632271	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	12204933	116632271	29731751	106	98172											
COL14A1	7373	broad.mit.edu	37	chr8	121222051	121222051	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtgactgagaacagcatgCgagtcaaatgggatgcagtg	13	7	14	7	2	1	2	1	2	0	1	1	5	1	3	0	1	4	2	0	1	2	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:121222051C>T	ENST00000297848.3	+	12	1648	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R365*|COL14A1_ENST00000537875.1_Nonsense_Mutation_p.R460*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R460*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	460	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAACAGCATGCGAGTCAAATG	0.468													4	132					0	0	0	0	T	121222051	C	T	121222051	4	4	509	1	0	0	0	0	0	1	0	0	3701	760	27	1	1420	1	COL14A1	8	121222051	Nonsense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	4589780	121222051	25141971	107	98173											
C8orf76	84933	broad.mit.edu	37	chr8	124243966	124243966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggaggtagagtaccgtgGttaaatggtctgtgttggtt	7	14	16	4	1	1	1	0	0	1	1	1	2	1	2	1	5	1	6	1	5	4	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:124243966G>A	ENST00000276704.4	-	4	440	c.389C>T	c.(388-390)aCc>aTc	p.T130I	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.T98I	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	130							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGTACCGTGGTTAAATGGTC	0.343													21	134					0	0	0	0	A	124243966	G	A	124243966	3	1	509	1	0	0	0	0	1	0	0	0	2462	1261	44	4	765	4	C8orf76	8	124243966	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	3021915	124243966	22120056	108	98174											
TRAPPC9	83696	broad.mit.edu	37	chr8	141297720	141297720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttaccgttcacagtaatCgttccagtcgtctgcgggac	7	12	9	13	4	2	0	1	0	1	0	6	1	4	1	3	1	2	3	3	1	2	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:141297720C>T	ENST00000389328.4	-	13	2276	c.2262G>A	c.(2260-2262)acG>acA	p.T754T	TRAPPC9_ENST00000389327.3_Silent_p.T647T|TRAPPC9_ENST00000438773.2_Silent_p.T656T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	656					cell differentiation	endoplasmic reticulum|Golgi apparatus				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						TCACAGTAATCGTTCCAGTCG	0.602													4	94					0	0	0	0	T	141297720	C	T	141297720	2	4	509	1	0	0	0	0	0	0	0	1	16560	871	31	1		1	TRAPPC9	8	141297720	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	17053754	141297720	5066302	109	98175											
EPPK1	83481	broad.mit.edu	37	chr8	144940707	144940707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgctcatcttctcctggcGgccgggctggtccttggcgg	2	11	15	13	3	3	0	1	0	2	0	5	1	4	0	3	6	1	2	3	6	0	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:144940707G>A	ENST00000525985.1	-	2	6786	c.6715C>T	c.(6715-6717)Cgc>Tgc	p.R2239C				P58107	EPIPL_HUMAN	epiplakin 1	2239						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCTCCTGGCGGCCGGGCTGG	0.701													8	247					0	0	0	0	A	144940707	G	A	144940707	3	1	509	1	0	0	0	0	1	0	0	0	5228	1116	39	1	551	1	EPPK1	8	144940707	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	3642987	144940707	1423315	110	98176											
PLEC	5339	broad.mit.edu	37	chr8	144993029	144993029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagagagatgatccgagcctCgaacaggtcctcagccgtga	11	6	13	11	3	1	4	1	2	0	2	4	8	3	4	4	1	3	0	4	1	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:144993029C>G	ENST00000322810.4	-	32	11540	c.11371G>C	c.(11371-11373)Gag>Cag	p.E3791Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E3632Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3654Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3640Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3622Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3654Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3677Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3658Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3681Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3791	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCCGAGCCTCGAACAGGTCC	0.617													11	87					0	0	0	0	G	144993029	C	G	144993029	3	3	509	1	0	0	0	0	1	0	0	0	12124	893	31	3	2687	3	PLEC	8	144993029	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	52322	144993029	1370993	111	98177											
RECQL4	9401	broad.mit.edu	37	chr8	145737081	145737081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgatgccgtggaagatgCgggccacagccctgctggag	8	5	15	13	3	0	1	0	0	0	1	0	4	0	3	4	3	4	1	4	3	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:145737081C>T	ENST00000428558.2	-	21	3526	c.3485G>A	c.(3484-3486)cGc>cAc	p.R1162H	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1162					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGGAAGATGCGGGCCACAGC	0.692			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	167					0	0	0	0	T	145737081	C	T	145737081	3	4	509	1	0	0	0	0	1	0	0	0	13284	768	27	1	149	1	RECQL4	8	145737081	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	744052	145737081	626941	112	98178											
COMMD5	28991	broad.mit.edu	37	chr8	146076216	146076216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgctcggctgcagggagcGagccagggcactggtggaga	8	4	19	10	3	0	1	0	0	0	1	1	5	0	2	1	5	3	4	1	5	0	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:146076216G>A	ENST00000450361.2	-	2	929	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	COMMD5_ENST00000305103.3_Missense_Mutation_p.R170C|COMMD5_ENST00000402718.3_Missense_Mutation_p.R170C	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	170	COMM.					nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TGCAGGGAGCGAGCCAGGGCA	0.617													11	26					0	0	0	0	A	146076216	G	A	146076216	3	1	509	1	0	0	0	0	1	0	0	0	3749	1058	37	1	170	1	COMMD5	8	146076216	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	339135	146076216	287806	113	98179											
TLN1	7094	broad.mit.edu	37	chr9	35720091	35720091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtaatctgctgctgggcaGggggcatgctgcccacctgg	5	9	16	11	0	1	0	0	0	1	0	1	0	1	0	2	5	4	6	2	5	1	1	rs148182997		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:35720091G>A	ENST00000314888.9	-	13	1762	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	TLN1_ENST00000540444.1_Missense_Mutation_p.P470L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	470					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCTGGGCAGGGGGCATGCT	0.627													15	20					0	0	0	0	A	35720091	G	A	35720091	3	1	509	1	0	0	0	0	1	0	0	0	16041	1000	35	4	6396	4	TLN1	9	35720091	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08		35720091	105493340	114	98180											
GNA14	9630	broad.mit.edu	37	chr9	80262668	80262668	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctccgcgctgatgcgctgCgactccttctcctccgcgga	4	10	10	17	6	2	1	0	1	2	0	6	3	4	2	4	1	2	2	4	1	0	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:80262668C>T	ENST00000341700.6	-	1	555	c.42G>A	c.(40-42)tcG>tcA	p.S14S		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	14					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TGATGCGCTGCGACTCCTTCT	0.692													9	7					0	0	0	0	T	80262668	C	T	80262668	2	4	509	1	0	0	0	0	0	0	0	1	6553	755	27	1		1	GNA14	9	80262668	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	44542577	80262668	60950763	115	98181											
FANCC	2176	broad.mit.edu	37	chr9	97873861	97873861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattgctctgccaccatctCagcccatcctccgaagtgaa	10	10	6	15	1	2	1	1	1	2	0	5	2	4	1	5	0	3	1	5	0	3	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:97873861C>T	ENST00000289081.3	-	13	1467	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	FANCC_ENST00000375305.1_Missense_Mutation_p.E405K	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	405					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GCCACCATCTCAGCCCATCCT	0.577			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	28					0	0	0	0	T	97873861	C	T	97873861	3	4	509	1	0	0	0	0	1	0	0	0	5709	835	29	2	475	2	FANCC	9	97873861	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	17611193	97873861	43339570	116	98182											
ZNF367	195828	broad.mit.edu	37	chr9	99180258	99180259	+	In_Frame_Ins	INS	-	-	GGC																															agtcgtggcagaagatgacgINSggcggcggcggcggcggcgg																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:99180258_99180259insGGC	ENST00000375256.4	-	1	352_353	c.56_57insGCC	c.(55-57)cgt>cGCCgt	p.19_19R>RR		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	19	Pro-rich.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AGAAGATGACGggcggcggcgg	0.752													7	12	---	---	---	---					GGC	99180259	-	GGC	99180258	7	5	509	1	0	1	1	0	0	0	0	0	17966	1103	39	0	1015	0	ZNF367	9	99180258	In_Frame_Ins	INS	-	TCGA-WA-A7GZ-01A-11D-A34J-08	1306397	99180258	42033173	117	98183											
NCBP1	4686	broad.mit.edu	37	chr9	100405623	100405623	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcattgaaagcaaacaattAtaatgaagccgtgtatttgg	16	12	8	5	1	1	2	1	2	0	0	1	2	1	2	1	1	3	2	1	1	7	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:100405623A>G	ENST00000375147.3	+	4	618	c.362A>G	c.(361-363)tAt>tGt	p.Y121C		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	121	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GCAAACAATTATAATGAAGCC	0.338													79	59					0	0	0	0	G	100405623	A	G	100405623	3	3	509	1	0	0	0	0	1	0	0	0	10281	449	16	5	376	5	NCBP1	9	100405623	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	1225365	100405623	40807808	118	98184											
ALDOB	229	broad.mit.edu	37	chr9	104188845	104188845	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaaaacttaccttctcagTaacatactggcagtgttcca	12	14	5	10	0	1	0	1	0	1	0	3	0	2	0	2	1	4	3	2	1	5	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:104188845T>G	ENST00000374855.4	-	6	740	c.616A>C	c.(616-618)Act>Cct	p.T206P	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	206					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACCTTCTCAGTAACATACTGG	0.368													38	22					0	0	0	0	G	104188845	T	G	104188845	3	3	509	1	0	0	0	0	1	0	0	0	508	1638	57	5	494	5	ALDOB	9	104188845	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	3783222	104188845	37024586	119	98185											
ZNF483	158399	broad.mit.edu	37	chr9	114296094	114296094	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggagccttttcaaaagGagctatataaggaagtgcta	14	10	11	6	0	1	0	1	0	0	0	1	3	1	3	1	3	4	3	1	3	7	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:114296094G>T	ENST00000309235.5	+	4	735	c.577G>T	c.(577-579)Gag>Tag	p.E193*	ZNF483_ENST00000358151.4_Nonsense_Mutation_p.E193*|ZNF483_ENST00000355824.3_Nonsense_Mutation_p.E193*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	193	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTTTCAAAAGGAGCTATATAA	0.403													16	126					3.41278e-10	3.77844e-10	1	0	T	114296094	G	T	114296094	4	4	509	1	0	0	0	0	0	1	0	0	18031	1175	41	2	587	2	ZNF483	9	114296094	Nonsense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	10107249	114296094	26917337	120	98186											
TRIM32	22954	broad.mit.edu	37	chr9	119461060	119461060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctaaacagcggggtcctGaggcagcctccaatatccag	10	7	11	13	1	0	1	0	1	0	0	3	1	3	1	4	3	4	2	4	3	4	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:119461060G>A	ENST00000450136.1	+	2	1200	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.E347K|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	347					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGGGGTCCTGAGGCAGCCTC	0.547													6	65					0	0	0	0	A	119461060	G	A	119461060	3	1	509	1	0	0	0	0	1	0	0	0	16601	1291	45	2	1041	2	TRIM32	9	119461060	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	5164966	119461060	21752371	121	98187											
CACNA1B	774	broad.mit.edu	37	chr9	140807638	140807638	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttctgccaggatcctTgccacggctggaactgactt	6	13	10	12	1	1	1	0	1	1	0	2	3	2	3	3	3	3	2	3	3	1	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:140807638T>C	ENST00000371372.1	+	4	682	c.537T>C	c.(535-537)ctT>ctC	p.L179L	CACNA1B_ENST00000371363.1_Silent_p.L179L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.L179L|CACNA1B_ENST00000371355.4_Silent_p.L179L|CACNA1B_ENST00000371357.1_Silent_p.L179L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	179					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGGATCCTTGCCACGGCTG	0.562													24	28					0	0	0	0	C	140807638	T	C	140807638	2	2	509	1	0	0	0	0	0	0	0	1	2564	1799	63	5		5	CACNA1B	9	140807638	Silent	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	21346578	140807638	405793	122	98188											
FAM21C	253725	broad.mit.edu	37	chr10	46222968	46222968	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcagccagagctggtCgctggcggccgacgcgggcg	6	3	19	13	6	0	1	0	0	0	1	1	3	0	2	2	5	3	3	2	5	0	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:46222968C>A	ENST00000336378.4	+	2	225	c.107C>A	c.(106-108)tCg>tAg	p.S36*	FAM21C_ENST00000374362.2_Nonsense_Mutation_p.S36*|FAM21C_ENST00000540872.1_Nonsense_Mutation_p.S36*|FAM21C_ENST00000537517.1_Nonsense_Mutation_p.S36*|FAM21C_ENST00000359860.4_Nonsense_Mutation_p.S35*	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	36										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAGAGCTGGTCGCTGGCGGCC	0.761													3	23					0.004672	0.00479224	1	0	A	46222968	C	A	46222968	4	1	509	1	0	0	0	0	0	1	0	0	5585	893	31	3	113	3	FAM21C	10	46222968	Nonsense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		46222968	89311779	123	98189											
FAM21C	253725	broad.mit.edu	37	chr10	46248143	46248143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaggggctatttgatgatGaggacgaggaggtgagtcca	11	8	17	5	1	0	4	0	4	0	0	1	7	1	6	1	5	0	2	1	5	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:46248143G>A	ENST00000336378.4	+	12	1229	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	FAM21C_ENST00000374362.2_Missense_Mutation_p.E371K|FAM21C_ENST00000540872.1_Missense_Mutation_p.E371K|FAM21C_ENST00000537517.1_Missense_Mutation_p.E347K|FAM21C_ENST00000359860.4_Missense_Mutation_p.E315K	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	371										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATTTGATGATGAGGACGAGGA	0.567													32	147					0	0	0	0	A	46248143	G	A	46248143	3	1	509	1	0	0	0	0	1	0	0	0	5585	1291	45	2	1157	2	FAM21C	10	46248143	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	25175	46248143	89286604	124	98190											
TET1	80312	broad.mit.edu	37	chr10	70451319	70451319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcttttaccagcacaaaaaCctaaataagccccaacatgg	16	8	5	12	0	1	0	0	0	1	0	1	0	1	0	4	1	5	1	4	1	7	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:70451319C>T	ENST00000373644.4	+	12	6368	c.6159C>T	c.(6157-6159)aaC>aaT	p.N2053N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2053					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCACAAAAACCTAAATAAGC	0.463													6	40					0	0	0	0	T	70451319	C	T	70451319	2	4	509	1	0	0	0	0	0	0	0	1	15863	506	18	4		4	TET1	10	70451319	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	24203176	70451319	65083428	125	98191											
AGAP11	119385	broad.mit.edu	37	chr10	88768491	88768491	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattcaagcttaggtgattAtatgaagaatattcataaaa	17	15	6	3	0	2	3	2	2	0	1	2	3	2	3	0	1	1	1	0	1	10	8			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:88768491A>G	ENST00000444431.1	+	0	3091				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TTAGGTGATTATATGAAGAAT	0.443													112	177					0	0	0	0	G	88768491	A	G	88768491	1	3	509	0	1	0	0	0	0	0	0	0	367	449	16	5		5	AGAP11	10	88768491	RNA	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	18317172	88768491	46766256	126	98192											
IDE	3416	broad.mit.edu	37	chr10	94239147	94239147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtacaaataggccatgtTacagtgcaaggggtccacat	14	8	11	8	0	0	0	0	0	0	0	1	0	1	0	2	4	3	3	2	4	6	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:94239147T>C	ENST00000265986.6	-	15	1827	c.1771A>G	c.(1771-1773)Aac>Gac	p.N591D	IDE_ENST00000371581.5_Missense_Mutation_p.N36D|IDE_ENST00000496903.1_Intron	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	591					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGGCCATGTTACAGTGCAAG	0.413													13	77					0	0	0	0	C	94239147	T	C	94239147	3	2	509	1	0	0	0	0	1	0	0	0	7546	1754	61	5	1332	5	IDE	10	94239147	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	5470656	94239147	41295600	127	98193											
NOLC1	9221	broad.mit.edu	37	chr10	103919277	103919277	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctagcagtgaggattccTccagtgacgaggaagaggag	11	8	15	7	1	1	3	0	2	1	1	3	7	3	6	2	3	1	2	2	3	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:103919277T>A	ENST00000405356.1	+	7	1076	c.841T>A	c.(841-843)Tcc>Acc	p.S281T	NOLC1_ENST00000488254.2_Missense_Mutation_p.S272T|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_Missense_Mutation_p.S271T			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	271	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TGAGGATTCCTCCAGTGACGA	0.517													8	50					0	0	0	0	A	103919277	T	A	103919277	3	1	509	1	0	0	0	0	1	0	0	0	10599	1551	54	5	837	5	NOLC1	10	103919277	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	9680130	103919277	31615470	128	98194											
SHOC2	8036	broad.mit.edu	37	chr10	112764471	112764471	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctaccatctattccctCaacatggaacacaatcgaat	13	13	3	12	1	3	0	1	0	2	0	5	2	4	1	2	1	3	0	2	1	6	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:112764471C>G	ENST00000369452.4	+	5	1425	c.1080C>G	c.(1078-1080)ctC>ctG	p.L360L	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Silent_p.L314L	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	360					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCTATTCCCTCAACATGGAAC	0.353													5	88					0	0	0	0	G	112764471	C	G	112764471	2	3	509	1	0	0	0	0	0	0	0	1	14375	813	29	2		2	SHOC2	10	112764471	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	8845194	112764471	22770276	129	98195											
FAM45A	404636	broad.mit.edu	37	chr10	120877149	120877149	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtaaggattttgatgccCgaaaggcctacctggctggc	9	11	12	9	1	0	1	0	1	0	0	0	3	0	2	3	4	2	2	3	4	4	5	rs113664509	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:120877149C>T	ENST00000361432.2	+	4	477	c.451C>T	c.(451-453)Cga>Tga	p.R151*	FAM45A_ENST00000535029.1_Nonsense_Mutation_p.R151*|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	151										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TTTTGATGCCCGAAAGGCCTA	0.493													43	80					0	0	0	0	T	120877149	C	T	120877149	4	4	509	1	0	0	0	0	0	1	0	0	5611	644	23	1	465	1	FAM45A	10	120877149	Nonsense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	8112678	120877149	14657598	130	98196											
SEC23IP	11196	broad.mit.edu	37	chr10	121693241	121693241	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactacttaaagaaatttatCgaacaatgaacattagtcca	18	12	4	7	1	0	2	0	1	0	1	2	3	1	2	1	0	4	0	1	0	10	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:121693241C>T	ENST00000369075.3	+	18	3037	c.2965C>T	c.(2965-2967)Cga>Tga	p.R989*	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Nonsense_Mutation_p.R778*	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	989	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.R989*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGAAATTTATCGAACAATGAA	0.313													8	54					0	0	0	0	T	121693241	C	T	121693241	4	4	509	1	0	0	0	0	0	1	0	0	14080	876	31	1	3035	1	SEC23IP	10	121693241	Nonsense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	816092	121693241	13841506	131	98197											
KNDC1	85442	broad.mit.edu	37	chr10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgcagccaagttcagcGtcccccgcaaccacaagctg	10	4	10	17	3	1	0	1	0	0	0	2	1	2	1	5	1	4	4	5	1	3	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687													10	9					0	0	0	0	A	135009218	G	A	135009218	3	1	509	1	0	0	0	0	1	0	0	0	8478	1145	40	1	1665	1	KNDC1	10	135009218	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	13315977	135009218	525529	132	98198											
MUC5B	727897	broad.mit.edu	37	chr11	1267341	1267341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcacccttgggaccacCgggaccctcccagaacagac	9	6	8	18	1	1	2	1	0	0	2	3	4	3	4	6	2	1	0	6	2	1	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:1267341C>T	ENST00000447027.1	+	31	9298	c.9240C>T	c.(9238-9240)acC>acT	p.T3080T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3077T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3077	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			LPEQTTT -> SQNRPPH (in Ref. 4; CAA96577).|Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T3056T(1)|p.T3077T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTGGGACCACCGGGACCCTCC	0.602													27	71					0	0	0	0	T	1267341	C	T	1267341	2	4	509	1	0	0	0	0	0	0	0	1	10049	639	23	1		1	MUC5B	11	1267341	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		1267341	133739175	133	98199											
CHST1	8534	broad.mit.edu	37	chr11	45672336	45672336	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggggctctcctcgcaCagtcgctcggccagcccggc	5	6	14	16	4	1	0	0	0	1	0	5	0	1	0	3	5	1	3	3	5	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:45672336C>A	ENST00000308064.2	-	4	808	c.138G>T	c.(136-138)ctG>ctT	p.L46L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	46					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCTCCTCGCACAGTCGCTCGG	0.662													17	51					0.000132079	0.000139057	1	0	A	45672336	C	A	45672336	2	1	509	1	0	0	0	0	0	0	0	1	3426	465	17	4		4	CHST1	11	45672336	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	44404995	45672336	89334180	134	98200											
FNBP4	23360	broad.mit.edu	37	chr11	47765672	47765672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcagaacgtggactagacCctgacacactaccatctcct	12	9	6	14	1	2	3	1	1	1	2	3	4	2	4	3	1	2	0	3	1	4	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:47765672C>A	ENST00000263773.5	-	8	1301	c.1289G>T	c.(1288-1290)gGg>gTg	p.G430V	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	430										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TGGACTAGACCCTGACACACT	0.418													22	48					1.28384e-07	1.39918e-07	1	0	A	47765672	C	A	47765672	3	1	509	1	0	0	0	0	1	0	0	0	6012	623	22	4	1804	4	FNBP4	11	47765672	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	2093336	47765672	87240844	135	98201											
OR5L1	219437	broad.mit.edu	37	chr11	55579636	55579636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgaagatgggctctgcaGagggcaggcacaaagccttc	10	7	13	11	0	1	3	0	1	1	2	3	3	2	3	2	3	2	4	2	3	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:55579636G>A	ENST00000333973.2	+	1	783	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E232Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGGCTCTGCAGAGGGCAGGCA	0.517													41	91					0	0	0	0	A	55579636	G	A	55579636	3	1	509	1	0	0	0	0	1	0	0	0	11241	943	33	2	696	2	OR5L1	11	55579636	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	7813964	55579636	79426880	136	98202											
OR5D16	390144	broad.mit.edu	37	chr11	55606887	55606887	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcattctgacatcttaTgcattcatcattgtcaccac	10	15	3	13	0	7	1	5	1	2	0	7	1	7	1	1	0	1	1	1	0	1	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:55606887T>A	ENST00000378396.1	+	1	660	c.660T>A	c.(658-660)taT>taA	p.Y220*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACATCTTATGCATTCATCA	0.468													15	133					0	0	0	0	A	55606887	T	A	55606887	4	1	509	1	0	0	0	0	0	1	0	0	11227	1471	51	5	662	5	OR5D16	11	55606887	Nonsense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	27251	55606887	79399629	137	98203											
OR5M10	390167	broad.mit.edu	37	chr11	56345134	56345134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggatcttctctagcaCtgggtcgtctgtcagtccta	9	12	9	11	1	4	0	1	0	3	0	7	1	5	1	1	2	2	1	1	2	3	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:56345134C>G	ENST00000526812.2	-	1	129	c.64G>C	c.(64-66)Gtg>Ctg	p.V22L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCTCTAGCACTGGGTCGTCT	0.458													48	76					0	0	0	0	G	56345134	C	G	56345134	3	3	509	1	0	0	0	0	1	0	0	0	11244	565	20	4	887	4	OR5M10	11	56345134	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	738247	56345134	78661382	138	98204											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57070013	57070013	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagtctgtgctggcccctGatcgctccacctggctgctg	5	10	12	14	1	1	2	0	1	1	1	3	2	2	2	4	2	2	4	4	2	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57070013G>A	ENST00000532437.1	-	6	4914	c.4603C>T	c.(4603-4605)Cag>Tag	p.Q1535*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.Q1535*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1535	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTGGCCCCTGATCGCTCCAC	0.642													10	23					0	0	0	0	A	57070013	G	A	57070013	4	1	509	1	0	0	0	0	0	1	0	0	16414	1299	45	2	606	2	TNKS1BP1	11	57070013	Nonsense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	724879	57070013	77936503	139	98205											
SMTNL1	219537	broad.mit.edu	37	chr11	57313477	57313477	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgggggccccgggcacaGaaccgcaaagccatcgtgga	9	2	14	16	4	0	1	0	0	0	1	1	2	0	2	6	4	2	2	6	4	2	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57313477G>A	ENST00000457912.1	+	5	1095	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	SMTNL1_ENST00000399154.2_Silent_p.Q310Q|SMTNL1_ENST00000527972.1_Silent_p.Q347Q			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	347										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCGGGCACAGAACCGCAAAG	0.667													8	30					0	0	0	0	A	57313477	G	A	57313477	2	1	509	1	0	0	0	0	0	0	0	1	14903	933	33	2		2	SMTNL1	11	57313477	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	243464	57313477	77693039	140	98206											
OR9Q1	219956	broad.mit.edu	37	chr11	57946991	57946991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaatatcctgaatgggcactCcctctcttcctcttgttttt	6	17	6	12	0	2	1	0	1	2	0	6	2	5	1	3	1	0	2	3	1	3	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57946991C>T	ENST00000335397.3	+	3	391	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AATGGGCACTCCCTCTCTTCC	0.458													25	77					0	0	0	0	T	57946991	C	T	57946991	2	4	509	1	0	0	0	0	0	0	0	1	11326	842	30	2		2	OR9Q1	11	57946991	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	633514	57946991	77059525	141	98207											
OR10Q1	219960	broad.mit.edu	37	chr11	57995715	57995715	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaaggggatggtcagCacgaggatgctcacgacata	13	5	15	8	2	2	0	2	0	0	0	2	5	2	3	0	5	3	3	0	5	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57995715C>A	ENST00000316770.2	-	1	675	c.633G>T	c.(631-633)gtG>gtT	p.V211V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGATGGTCAGCACGAGGATGC	0.622													7	42					0.0381472	0.0384227	1	0	A	57995715	C	A	57995715	2	1	509	1	0	0	0	0	0	0	0	1	10987	697	25	4		4	OR10Q1	11	57995715	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	48724	57995715	77010801	142	98208											
OR4D11	219986	broad.mit.edu	37	chr11	59271951	59271951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcagccatgagaagactGaagagaagactcgtgccttc	14	7	11	9	1	1	5	1	2	0	4	3	7	1	5	2	0	2	0	2	0	4	1	rs116174674	by1000genomes	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:59271951G>A	ENST00000313253.1	+	1	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGAGAAGACTGAAGAGAAGAC	0.522													17	29					0	0	0	0	A	59271951	G	A	59271951	2	1	509	1	0	0	0	0	0	0	0	1	11126	1277	45	2		2	OR4D11	11	59271951	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	1276236	59271951	75734565	143	98209											
PGA3	643834	broad.mit.edu	37	chr11	60971074	60971074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgggtctggtggcactctCtgagtgcatcatgtacaagt	7	12	13	9	0	3	1	1	1	2	0	4	1	3	1	0	3	2	4	0	3	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:60971074C>T	ENST00000325558.6	+	1	223	c.38C>T	c.(37-39)tCt>tTt	p.S13F		NM_001079807.1	NP_001073275.1			pepsinogen 3, group I (pepsinogen A)											endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GTGGCACTCTCTGAGTGCATC	0.572													4	74					0	0	0	0	T	60971074	C	T	60971074	3	4	509	1	0	0	0	0	1	0	0	0	11843	913	32	2	40	2	PGA3	11	60971074	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	1699123	60971074	74035442	144	98210											
AHNAK	79026	broad.mit.edu	37	chr11	62291072	62291086	+	In_Frame_Del	DEL	TTCACTTTGGGCATC	TTCACTTTGGGCATC	-																															gcatgctgaacttgggcattTtcactttgggcatcttcaga																								rs145179465		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62291072_62291086delTTCACTTTGGGCATC	ENST00000378024.4	-	5	11077_11091	c.10803_10817delGATGCCCAAAGTGAA	c.(10801-10818)aaa>aa	p.KMPKVK3601del	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3601					nervous system development	nucleus	protein binding			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)				CTTGGGCATTTTCACTTTGGGCATCTTCAGATGCC	0.488													92	391	---	---	---	---					-	62291086	TTCACTTTGGGCATC	-	62291072	7	5	509	1	0	1	0	1	0	0	0	0	414	1841	64	0	6975	0	AHNAK	11	62291072	In_Frame_Del	DEL	TTCACTTTGGGCATC	TCGA-WA-A7GZ-01A-11D-A34J-08	1319998	62291072	72715444	145	98211											
AHNAK	79026	broad.mit.edu	37	chr11	62293276	62293276	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtccactttggggcctttGaggtcaacttcaggaccttt	7	14	10	10	0	2	1	2	1	0	0	3	2	3	2	3	4	1	0	3	4	1	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62293276G>C	ENST00000378024.4	-	5	8887	c.8613C>G	c.(8611-8613)ctC>ctG	p.L2871L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2871					nervous system development	nucleus	protein binding			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)				TGGGGCCTTTGAGGTCAACTT	0.468													28	320					0	0	0	0	C	62293276	G	C	62293276	2	2	509	1	0	0	0	0	0	0	0	1	414	1277	45	2		2	AHNAK	11	62293276	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	2204	62293276	72713240	146	98212											
AHNAK	79026	broad.mit.edu	37	chr11	62293496	62293496	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacatccactttcggtcctGagacatcaatgtcagccttg	10	11	7	13	1	2	1	2	1	0	1	5	2	4	1	3	1	2	0	3	1	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62293496G>C	ENST00000378024.4	-	5	8667	c.8393C>G	c.(8392-8394)tCa>tGa	p.S2798*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2798					nervous system development	nucleus	protein binding			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)				TTTCGGTCCTGAGACATCAAT	0.458													28	297					0	0	0	0	C	62293496	G	C	62293496	4	2	509	1	0	0	0	0	0	1	0	0	414	1294	45	2	9399	2	AHNAK	11	62293496	Nonsense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	220	62293496	72713020	147	98213											
B3GNT1	11041	broad.mit.edu	37	chr11	66113655	66113655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaagcccttatgaacCaagaaaccttcgttcaggac	12	11	7	11	1	2	3	1	2	1	1	3	4	2	4	3	1	3	1	3	1	5	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:66113655C>A	ENST00000311181.4	-	2	1259	c.1113G>T	c.(1111-1113)ttG>ttT	p.L371F		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	371					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCTTATGAACCAAGAAACCTT	0.463													25	65					1.66031e-10	1.84552e-10	1	0	A	66113655	C	A	66113655	3	1	509	1	0	0	0	0	1	0	0	0	1260	593	21	4	138	4	B3GNT1	11	66113655	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	3820159	66113655	68892861	148	98214											
KDM2A	22992	broad.mit.edu	37	chr11	66982819	66982819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctatttaaaggtggatttCattgactgggtagacaacat	12	15	9	5	0	2	2	1	1	1	1	2	3	2	3	0	3	1	1	0	3	5	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:66982819C>G	ENST00000529006.2	+	7	941	c.495C>G	c.(493-495)ttC>ttG	p.F165L	KDM2A_ENST00000398645.2_Missense_Mutation_p.F165L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	165	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGTGGATTTCATTGACTGGG	0.408													7	16					0	0	0	0	G	66982819	C	G	66982819	3	3	509	1	0	0	0	0	1	0	0	0	8177	825	29	2	517	2	KDM2A	11	66982819	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	869164	66982819	68023697	149	98215											
GDPD5	81544	broad.mit.edu	37	chr11	75152270	75152270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgtcagaggtgacggatgGgacccccgcacaccacagca	10	5	13	13	2	1	2	1	1	0	1	1	4	1	4	3	3	1	3	3	3	0	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:75152270G>A	ENST00000526177.1	-	10	2875	c.997C>T	c.(997-999)Cca>Tca	p.P333S	GDPD5_ENST00000533784.1_Missense_Mutation_p.P352S|GDPD5_ENST00000533805.1_Missense_Mutation_p.P226S|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.P471S|GDPD5_ENST00000336898.3_Missense_Mutation_p.P471S|GDPD5_ENST00000376282.3_Missense_Mutation_p.P352S			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	471	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTGACGGATGGGACCCCCGCA	0.652													19	39					0	0	0	0	A	75152270	G	A	75152270	3	1	509	1	0	0	0	0	1	0	0	0	6378	1232	43	4	422	4	GDPD5	11	75152270	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	8169451	75152270	59854246	150	98216											
FAT3	120114	broad.mit.edu	37	chr11	92531594	92531594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagccacagatgctgacagCaaccggaatgctctgcttgt	10	8	11	12	2	1	2	0	1	1	1	1	4	1	3	2	1	6	4	2	1	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:92531594C>A	ENST00000298047.6	+	9	5432	c.5415C>A	c.(5413-5415)agC>agA	p.S1805R	FAT3_ENST00000525166.1_Missense_Mutation_p.S1655R|FAT3_ENST00000409404.2_Missense_Mutation_p.S1805R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1805	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGCTGACAGCAACCGGAATG	0.483										TCGA Ovarian(4;0.039)			9	21					0.000274275	0.000286602	1	0	A	92531594	C	A	92531594	3	1	509	1	0	0	0	0	1	0	0	0	5736	709	25	4	5449	4	FAT3	11	92531594	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	17379324	92531594	42474922	151	98217											
KIAA1377	57562	broad.mit.edu	37	chr11	101834519	101834525	+	Frame_Shift_Del	DEL	ATCCGTC	ATCCGTC	-																															tcctgtttgtgaagaaagttAtccgtctgtgactctaagaa																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:101834519_101834525delATCCGTC	ENST00000263468.8	+	6	3023_3029	c.2753_2759delATCCGTC	c.(2752-2760)ttfs	p.YPS918fs	KIAA1377_ENST00000537689.1_Frame_Shift_Del_p.YPS719fs	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	918							protein binding	p.P919P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAGAAAGTTATCCGTCTGTGACTCTA	0.396													42	162	---	---	---	---					-	101834525	ATCCGTC	-	101834519	7	5	509	1	0	1	0	1	0	0	0	0	8278	449	16	0	2775	0	KIAA1377	11	101834519	Frame_Shift_Del	DEL	ATCCGTC	TCGA-WA-A7GZ-01A-11D-A34J-08	9302925	101834519	33171997	152	98218											
PCSK7	9159	broad.mit.edu	37	chr11	117100339	117100339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgggccaaggcatcCgcctgctgctccagagtctc	5	8	12	16	1	1	1	0	0	1	1	4	1	3	1	5	2	3	4	5	2	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:117100339C>T	ENST00000320934.3	-	3	852	c.222G>A	c.(220-222)gcG>gcA	p.A74A		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	74					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCAAGGCATCCGCCTGCTGCT	0.672			T	IGH@	MLCLS								6	56					0	0	0	0	T	117100339	C	T	117100339	2	4	509	1	0	0	0	0	0	0	0	1	11676	639	23	1		1	PCSK7	11	117100339	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	15265820	117100339	17906177	153	98219											
NDUFA9	4704	broad.mit.edu	37	chr12	4771726	4771726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagaaagtagtgagagatGcatttccggaagccattatc	14	9	12	6	1	0	3	0	1	0	2	2	7	1	4	2	1	2	2	2	1	4	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:4771726G>A	ENST00000266544.5	+	6	600	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	194					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	AGTGAGAGATGCATTTCCGGA	0.373													24	87					0	0	0	0	A	4771726	G	A	4771726	3	1	509	1	0	0	0	0	1	0	0	0	10342	1319	46	4	602	4	NDUFA9	12	4771726	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08		4771726	129080169	154	98220											
ACSM4	341392	broad.mit.edu	37	chr12	7475033	7475033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatataaattcaagagtctgCggcactgcttgaccggaggg	11	9	13	8	2	2	2	1	1	1	1	2	4	2	3	1	3	2	2	1	3	4	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:7475033C>T	ENST00000399422.4	+	7	1069	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	341					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAAGAGTCTGCGGCACTGCTT	0.512													20	49					0	0	0	0	T	7475033	C	T	7475033	3	4	509	1	0	0	0	0	1	0	0	0	186	759	27	1	1047	1	ACSM4	12	7475033	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	2703307	7475033	126376862	155	98221											
DUSP16	80824	broad.mit.edu	37	chr12	12629888	12629888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaattccatttggcagcttCtgcgtttaaactgcttttca	9	16	6	10	1	2	0	1	0	1	0	3	0	3	0	1	1	4	4	1	1	3	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:12629888C>G	ENST00000228862.2	-	7	2508	c.1877G>C	c.(1876-1878)aGa>aCa	p.R626T	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	626					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGGCAGCTTCTGCGTTTAAA	0.537													19	187					0	0	0	0	G	12629888	C	G	12629888	3	3	509	1	0	0	0	0	1	0	0	0	4852	913	32	2	124	2	DUSP16	12	12629888	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	5154855	12629888	121222007	156	98222											
ALG10	84920	broad.mit.edu	37	chr12	34179606	34179606	+	Frame_Shift_Del	DEL	T	T	-																															ctcattgaaatcaaagtcaaTtttttggaatttaatgtttt																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:34179606delT	ENST00000266483.2	+	3	1497	c.1178delT	c.(1177-1179)atfs	p.I393fs	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	393					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAAAGTCAATTTTTTGGAAT	0.299													69	93	---	---	---	---					-	34179606	T	-	34179606	7	5	509	1	0	1	0	1	0	0	0	0	511	1493	52	0	1188	0	ALG10	12	34179606	Frame_Shift_Del	DEL	T	TCGA-WA-A7GZ-01A-11D-A34J-08	21549718	34179606	99672289	157	98223											
SP1	6667	broad.mit.edu	37	chr12	53804967	53804967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcttgccaacagtggcatCaacgtcatgcaggtggcaga	10	8	12	11	2	3	1	2	0	1	1	3	1	3	1	1	3	4	3	1	3	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:53804967C>G	ENST00000426431.2	+	6	2340	c.2280C>G	c.(2278-2280)atC>atG	p.I760M	SP1_ENST00000327443.4_Missense_Mutation_p.I767M	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	767	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACAGTGGCATCAACGTCATGC	0.547													16	63					0	0	0	0	G	53804967	C	G	53804967	3	3	509	1	0	0	0	0	1	0	0	0	15047	816	29	2	2323	2	SP1	12	53804967	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	19625361	53804967	80046928	158	98224											
RNF41	10193	broad.mit.edu	37	chr12	56600258	56600258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttccacgccatgcgcaaaTatcatgacaaggcctggctc	10	9	8	14	2	2	1	1	1	1	0	4	1	3	1	3	2	1	2	3	2	3	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:56600258T>C	ENST00000345093.4	-	7	1296	c.927A>G	c.(925-927)atA>atG	p.I309M	RNF41_ENST00000552656.1_Missense_Mutation_p.I309M|RNF41_ENST00000394013.2_Missense_Mutation_p.I238M	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	309					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CATGCGCAAATATCATGACAA	0.532											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	163					0	0	0	0	C	56600258	T	C	56600258	3	2	509	1	0	0	0	0	1	0	0	0	13579	1396	49	5	30	5	RNF41	12	56600258	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	2795291	56600258	77251637	159	98225											
HELB	92797	broad.mit.edu	37	chr12	66731855	66731855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaattcccaggcaacttttCaagcccaccgataatcaaga	14	10	5	12	1	2	1	2	0	0	1	3	2	3	1	3	1	2	1	3	1	5	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:66731855C>G	ENST00000247815.4	+	13	3296	c.3237C>G	c.(3235-3237)ttC>ttG	p.F1079L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1079					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCAACTTTTCAAGCCCACCG	0.343													14	69					0	0	0	0	G	66731855	C	G	66731855	3	3	509	1	0	0	0	0	1	0	0	0	7095	825	29	2	3287	2	HELB	12	66731855	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	10131597	66731855	67120040	160	98226											
CPSF6	11052	broad.mit.edu	37	chr12	69650523	69650523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcatcttcaaaaaagttaAtggatctgttacctaaaaga	18	11	6	6	0	3	1	1	0	2	1	3	2	3	2	1	1	2	3	1	1	8	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:69650523A>G	ENST00000435070.2	+	4	531	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.M141V|CPSF6_ENST00000456847.3_Missense_Mutation_p.M141V	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	141	Necessary for interaction with NUDT21/CPSF5.|RRM.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AAAAAAGTTAATGGATCTGTT	0.358													42	72					0	0	0	0	G	69650523	A	G	69650523	3	3	509	1	0	0	0	0	1	0	0	0	3859	101	4	5	435	5	CPSF6	12	69650523	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	2918668	69650523	64201372	161	98227											
TMPO	7112	broad.mit.edu	37	chr12	98909804	98909804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctcgcaaccggccgccgctCcccgccggcaccaacagcaa	8	2	10	21	6	0	0	0	0	0	0	2	0	1	0	7	2	3	5	7	2	3	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:98909804C>T	ENST00000556029.1	+	1	515	c.159C>T	c.(157-159)ctC>ctT	p.L53L	TMPO-AS1_ENST00000546421.1_RNA|TMPO_ENST00000261210.5_Silent_p.L53L|TMPO_ENST00000343315.5_Silent_p.L53L|TMPO_ENST00000266732.4_Silent_p.L53L|TMPO-AS1_ENST00000548760.2_RNA|TMPO_ENST00000393053.2_Silent_p.L53L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	53	Linker.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCCGCCGCTCCCCGCCGGCA	0.721													4	22					0	0	0	0	T	98909804	C	T	98909804	2	4	509	1	0	0	0	0	0	0	0	1	16331	842	30	2		2	TMPO	12	98909804	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	29259281	98909804	34942091	162	98228											
MTERFD3	80298	broad.mit.edu	37	chr12	107372302	107372302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtacccatccttttaatCtacgaattttcctaatgtca	13	15	3	10	1	2	0	1	0	1	0	4	1	4	0	3	0	2	1	3	0	6	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:107372302C>A	ENST00000552029.1	-	2	2259	c.191G>T	c.(190-192)aGa>aTa	p.R64I	C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Missense_Mutation_p.R64I|MTERFD3_ENST00000392830.2_Missense_Mutation_p.R64I			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TCCTTTTAATCTACGAATTTT	0.363													14	123					4.7546e-09	5.22258e-09	1	0	A	107372302	C	A	107372302	3	1	509	1	0	0	0	0	1	0	0	0	9991	913	32	2	970	2	MTERFD3	12	107372302	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	8462498	107372302	26479593	163	98229											
DAO	1610	broad.mit.edu	37	chr12	109284009	109284009	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggttccacacaagcctaAttctggagggaaagaactat	13	9	10	9	0	1	1	0	0	1	1	2	3	2	3	2	3	2	2	2	3	5	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:109284009A>C	ENST00000228476.3	+	5	616	c.412A>C	c.(412-414)Att>Ctt	p.I138L	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	138					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CACAAGCCTAATTCTGGAGGG	0.433													33	53					0	0	0	0	C	109284009	A	C	109284009	3	2	509	1	0	0	0	0	1	0	0	0	4264	101	4	5	426	5	DAO	12	109284009	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	1911707	109284009	24567886	164	98230											
POLE	5426	broad.mit.edu	37	chr12	133215852	133215852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggtactgggtgatctccTtcacccagcccacgaccatg	7	10	10	14	1	2	1	1	1	1	0	3	2	2	1	4	2	2	1	4	2	1	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:133215852T>C	ENST00000320574.5	-	40	5454	c.5411A>G	c.(5410-5412)aAg>aGg	p.K1804R	POLE_ENST00000535270.1_Missense_Mutation_p.K1777R|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1804					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGTGATCTCCTTCACCCAGCC	0.597								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	24					0	0	0	0	C	133215852	T	C	133215852	3	2	509	1	0	0	0	0	1	0	0	0	12268	1609	56	5	1489	5	POLE	12	133215852	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	23931843	133215852	636043	165	98231											
SACS	26278	broad.mit.edu	37	chr13	23906234	23906234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctacttttataatgtggCgcatcgtcaaacactaagat	13	14	6	8	2	2	1	1	0	1	1	3	1	2	1	0	1	2	1	0	1	5	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:23906234C>T	ENST00000382298.3	-	10	12369	c.11781G>A	c.(11779-11781)gcG>gcA	p.A3927A	SACS_ENST00000402364.1_Silent_p.A3177A|SACS_ENST00000382292.3_Silent_p.A3927A	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3927					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATAATGTGGCGCATCGTCAA	0.443													5	206					0	0	0	0	T	23906234	C	T	23906234	2	4	509	1	0	0	0	0	0	0	0	1	13889	755	27	1		1	SACS	13	23906234	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		23906234	91263644	166	98232											
NUPL1	9818	broad.mit.edu	37	chr13	25901152	25901152	+	Missense_Mutation	SNP	A	A	C																															tcttgccactcaagcaaataAttcacatataacccctcaag																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:25901152A>C	ENST00000463407.1	+	11	1273	c.1130A>C	c.(1129-1131)aAt>aCt	p.N377T	NUPL1_ENST00000381736.3_Missense_Mutation_p.N377T|NUPL1_ENST00000381718.3_Missense_Mutation_p.N365T|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	377	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CAAGCAAATAATTCACATATA	0.363													50	114					0	0	0	0	C	25901152	A	C	25901152	3	2	509	1	0	0	0	0	1	0	0	0	10845	101	4	5	1172	5	NUPL1	13	25901152	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	1994918	25901152	89268726	167	98233	1169	2									
NUPL1	9818	broad.mit.edu	37	chr13	25901160	25901160	+	Missense_Mutation	SNP	A	A	G																															ctcaagcaaataattcacatAtaacccctcaaggtaacatg																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:25901160A>G	ENST00000463407.1	+	11	1281	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	NUPL1_ENST00000381736.3_Missense_Mutation_p.I380V|NUPL1_ENST00000381718.3_Missense_Mutation_p.I368V|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	380	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TAATTCACATATAACCCCTCA	0.363													49	121					0	0	0	0	G	25901160	A	G	25901160	3	3	509	1	0	0	0	0	1	0	0	0	10845	449	16	5	1180	5	NUPL1	13	25901160	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	8	25901160	89268718	168	98234	1169	2									
LNX2	222484	broad.mit.edu	37	chr13	28141920	28141920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaatgtaaggattggaccGatgaatttcaatcgtggtga	12	12	12	5	2	1	3	1	3	0	0	2	6	1	5	1	3	0	1	1	3	4	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:28141920G>A	ENST00000316334.3	-	4	841	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	238	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GGATTGGACCGATGAATTTCA	0.413													18	84					0	0	0	0	A	28141920	G	A	28141920	3	1	509	1	0	0	0	0	1	0	0	0	8921	1057	37	1	1388	1	LNX2	13	28141920	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	2240760	28141920	87027958	169	98235											
CKAP2	26586	broad.mit.edu	37	chr13	53035910	53035910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagactctatcaagatccAtagcatctgaagttatagcc	15	11	6	9	0	3	3	1	1	2	2	4	3	4	3	2	0	2	2	2	0	7	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:53035910A>G	ENST00000378037.5	+	4	1042	c.952A>G	c.(952-954)Ata>Gta	p.I318V	CKAP2_ENST00000490903.1_Missense_Mutation_p.I269V|CKAP2_ENST00000258607.5_Missense_Mutation_p.I317V|CKAP2_ENST00000378034.3_Missense_Mutation_p.I317V	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	318					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATCAAGATCCATAGCATCTGA	0.383													15	107					0	0	0	0	G	53035910	A	G	53035910	3	3	509	1	0	0	0	0	1	0	0	0	3472	217	8	5	966	5	CKAP2	13	53035910	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	24893990	53035910	62133968	170	98236											
LIG4	3981	broad.mit.edu	37	chr13	108861130	108861130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccctcatttttggtactCaggtcattaataacagcata	11	14	6	10	0	3	0	3	0	0	0	4	0	4	0	2	2	3	2	2	2	4	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:108861130C>T	ENST00000356922.4	-	2	2759	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	LIG4_ENST00000442234.1_Silent_p.L829L|LIG4_ENST00000405925.1_Silent_p.L829L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	829	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGGTACTCAGGTCATTAA	0.428								Non-homologous end-joining					20	81					0	0	0	0	T	108861130	C	T	108861130	2	4	509	1	0	0	0	0	0	0	0	1	8837	813	29	2		2	LIG4	13	108861130	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	55825220	108861130	6308748	171	98237											
METTL3	56339	broad.mit.edu	37	chr14	21971721	21971721	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggcaggagcatctggCtagagaacgaggggaggtat	11	7	18	5	1	1	2	0	1	1	1	1	6	1	4	0	6	2	4	0	6	3	2	rs143040965	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:21971721C>A	ENST00000298717.4	-	3	470		c.e3-1		METTL3_ENST00000538267.1_Splice_Site	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3						gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAGCATCTGGCTAGAGAACGA	0.488													7	38					0.00198382	0.00205757	1	0	A	21971721	C	A	21971721	5	1	509	1	0	0	0	0	0	0	1	0	9570	811	28	4	1460	4	METTL3	14	21971721	Splice_Site	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		21971721	85377819	172	98238											
FAM179B	23116	broad.mit.edu	37	chr14	45475443	45475443	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctttcagaattaaatttCaaggataaagatttggatca	16	14	7	4	0	4	2	3	0	1	2	4	5	4	4	0	2	0	0	0	2	6	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:45475443C>G	ENST00000361462.2	+	5	3060	c.2877C>G	c.(2875-2877)ttC>ttG	p.F959L	FAM179B_ENST00000361577.3_Missense_Mutation_p.F959L|FAM179B_ENST00000382233.2_Missense_Mutation_p.F959L|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	959							binding	p.F959F(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATTAAATTTCAAGGATAAAG	0.284													16	36					0	0	0	0	G	45475443	C	G	45475443	3	3	509	1	0	0	0	0	1	0	0	0	5547	825	29	2	2895	2	FAM179B	14	45475443	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	23503722	45475443	61874097	173	98239											
KIAA0586	9786	broad.mit.edu	37	chr14	58909589	58909589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccattgcaaccgcagctccGttgataaaggtatatttttc	10	13	8	10	2	0	1	0	1	0	0	2	1	1	1	3	1	3	5	3	1	5	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:58909589G>A	ENST00000423743.3	+	6	702	c.444G>A	c.(442-444)ccG>ccA	p.P148P	KIAA0586_ENST00000261244.5_Silent_p.P192P|KIAA0586_ENST00000354386.6_Silent_p.P245P|KIAA0586_ENST00000556134.1_Silent_p.P177P|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	192										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGCAGCTCCGTTGATAAAGG	0.403													10	21					0	0	0	0	A	58909589	G	A	58909589	2	1	509	1	0	0	0	0	0	0	0	1	8237	1132	40	1		1	KIAA0586	14	58909589	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	13434146	58909589	48439951	174	98240											
ZC3H14	79882	broad.mit.edu	37	chr14	89037454	89037454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtattagataaacttcGctctgttacaactggtaaga	12	14	9	6	1	1	2	0	0	1	2	2	2	1	2	0	2	3	4	0	2	7	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:89037454G>A	ENST00000251038.5	+	4	446	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ZC3H14_ENST00000555755.1_Missense_Mutation_p.R74H|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R74H|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R40H|ZC3H14_ENST00000359301.3_Missense_Mutation_p.R40H|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R74H|ZC3H14_ENST00000393514.5_Missense_Mutation_p.R74H	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	74						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GATAAACTTCGCTCTGTTACA	0.294													30	79					0	0	0	0	A	89037454	G	A	89037454	3	1	509	1	0	0	0	0	1	0	0	0	17661	1087	38	1	235	1	ZC3H14	14	89037454	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	30127865	89037454	18312086	175	98241											
FBLN5	10516	broad.mit.edu	37	chr14	92403509	92403509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taacacacatcatgtctcctCggcaggcctcggggatggtt	8	10	11	12	2	2	0	1	0	1	0	5	1	2	1	2	5	1	2	2	5	1	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:92403509C>T	ENST00000267620.10	-	5	453	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	FBLN5_ENST00000342058.4_Missense_Mutation_p.R54Q|FBLN5_ENST00000556154.1_Missense_Mutation_p.R59Q			Q9UBX5	FBLN5_HUMAN	fibulin 5	54					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CATGTCTCCTCGGCAGGCCTC	0.537													24	43					0	0	0	0	T	92403509	C	T	92403509	3	4	509	1	0	0	0	0	1	0	0	0	5745	884	31	1	1217	1	FBLN5	14	92403509	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	3366055	92403509	14946031	176	98242											
ATXN3	4287	broad.mit.edu	37	chr14	92537302	92537302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcactcccaagtgctcctGaactggtggctggcctttca	7	11	10	13	0	2	1	2	1	0	0	4	2	4	1	3	3	2	2	3	3	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:92537302G>A	ENST00000545170.1	-	10	1063	c.995C>T	c.(994-996)tCa>tTa	p.S332L	ATXN3_ENST00000393287.5_Missense_Mutation_p.S323L|ATXN3_ENST00000532032.1_Missense_Mutation_p.S323L|ATXN3_ENST00000429774.2_Missense_Mutation_p.S316L|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000502250.1_Missense_Mutation_p.S144L|ATXN3_ENST00000503767.1_Missense_Mutation_p.S308L|ATXN3_ENST00000340660.6_Missense_Mutation_p.S268L	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	323					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AAGTGCTCCTGAACTGGTGGC	0.507													19	66					0	0	0	0	A	92537302	G	A	92537302	3	1	509	1	0	0	0	0	1	0	0	0	1217	1294	45	2	125	2	ATXN3	14	92537302	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	133793	92537302	14812238	177	98243											
AHNAK2	113146	broad.mit.edu	37	chr14	105407698	105407698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgcagtttcttaaacttcGaatccattccaacttctcca	12	14	3	12	1	2	0	0	0	2	0	6	1	4	0	3	0	3	2	3	0	5	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:105407698G>A	ENST00000333244.5	-	7	14209	c.14090C>T	c.(14089-14091)tCg>tTg	p.S4697L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4697						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTAAACTTCGAATCCATTCC	0.403													45	35					0	0	0	0	A	105407698	G	A	105407698	3	1	509	1	0	0	0	0	1	0	0	0	415	1059	37	1	3301	1	AHNAK2	14	105407698	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	12870396	105407698	1941842	178	98244											
FMN1	342184	broad.mit.edu	37	chr15	33180454	33180454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccagaaagaaatcctgtgGttccggcaaggggaaaacac	14	5	13	9	1	0	2	0	0	0	2	2	3	2	3	3	5	1	2	3	5	5	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:33180454G>A	ENST00000334528.9	-	12	3084	c.3085C>T	c.(3085-3087)Cca>Tca	p.P1029S	FMN1_ENST00000561249.1_Missense_Mutation_p.P1154S|FMN1_ENST00000559047.1_Missense_Mutation_p.P1252S	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1252	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAATCCTGTGGTTCCGGCAAG	0.393													15	38					0	0	0	0	A	33180454	G	A	33180454	3	1	509	1	0	0	0	0	1	0	0	0	5994	1261	44	4	529	4	FMN1	15	33180454	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08		33180454	69350938	179	98245											
RYR3	6263	broad.mit.edu	37	chr15	34072457	34072457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcgctggcagctgcCataccagtggcattcctgga	6	9	12	14	1	0	0	0	0	0	0	2	1	1	1	4	4	3	4	4	4	1	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:34072457C>T	ENST00000389232.4	+	65	9253	c.9183C>T	c.(9181-9183)gcC>gcT	p.A3061A	RYR3_ENST00000415757.3_Silent_p.A3061A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3061					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCAGCTGCCATACCAGTGG	0.567													13	33					0	0	0	0	T	34072457	C	T	34072457	2	4	509	1	0	0	0	0	0	0	0	1	13855	581	21	4		4	RYR3	15	34072457	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	892003	34072457	68458935	180	98246											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42135877	42135877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccttccccggccagactGagggagctggccgtgcgact	5	8	13	15	3	0	2	0	1	0	1	2	4	2	3	5	3	2	1	5	3	0	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:42135877G>A	ENST00000382448.4	+	16	1449	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	PLA2G4B_ENST00000452633.1_Silent_p.L249L|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.L249L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L480L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		249	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CGGCCAGACTGAGGGAGCTGG	0.642													14	54					0	0	0	0	A	42135877	G	A	42135877	2	1	509	1	0	0	0	0	0	0	0	1	8008	1277	45	2		2	JMJD7-PLA2G4B	15	42135877	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	8063420	42135877	60395515	181	98247											
SPTBN5	51332	broad.mit.edu	37	chr15	42168797	42168797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgctcactcctcccCtggagcctggtccactgtgc	3	11	8	19	0	2	0	1	0	1	0	6	1	6	1	6	2	3	1	6	2	0	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:42168797C>A	ENST00000320955.6	-	20	4127	c.3900G>T	c.(3898-3900)caG>caT	p.Q1300H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1300					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTCCTCCCCTGGAGCCTGG	0.652													5	8					5.9392e-07	6.44761e-07	1	0	A	42168797	C	A	42168797	3	1	509	1	0	0	0	0	1	0	0	0	15212	680	24	4	7320	4	SPTBN5	15	42168797	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	32920	42168797	60362595	182	98248											
SPG11	80208	broad.mit.edu	37	chr15	44944452	44944452	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttcacacagtaggtgTcctgggtgttgcctacattt	7	16	9	9	0	2	0	1	0	1	0	3	0	3	0	2	2	2	2	2	2	2	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:44944452T>C	ENST00000261866.7	-	5	898	c.882A>G	c.(880-882)ggA>ggG	p.G294G	SPG11_ENST00000535302.2_Silent_p.G294G|SPG11_ENST00000427534.2_Silent_p.G294G|SPG11_ENST00000559193.1_Silent_p.G294G|SPG11_ENST00000558319.1_Silent_p.G294G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	294					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACAGTAGGTGTCCTGGGTGTT	0.363													18	47					0	0	0	0	C	44944452	T	C	44944452	2	2	509	1	0	0	0	0	0	0	0	1	15131	1654	58	5		5	SPG11	15	44944452	Silent	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	2775655	44944452	57586940	183	98249											
ATP8B4	79895	broad.mit.edu	37	chr15	50223357	50223357	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgttgttgaaatccaaaAaggcaagtaattgataagta	16	12	10	3	0	0	2	0	2	0	0	1	2	1	2	1	2	0	5	1	2	7	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:50223357A>T	ENST00000284509.6	-	16	1742	c.1601T>A	c.(1600-1602)tTt>tAt	p.F534Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F534Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	534					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAAATCCAAAAAGGCAAGTAA	0.368													37	80					0	0	0	0	T	50223357	A	T	50223357	3	4	509	1	0	0	0	0	1	0	0	0	1201	14	1	5	2029	5	ATP8B4	15	50223357	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	5278905	50223357	52308035	184	98250											
ZWILCH	55055	broad.mit.edu	37	chr15	66812954	66812954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaattattctgtaaatcttGaaaacctaaaaaatttacac	20	13	2	6	0	2	1	0	1	2	0	2	1	2	1	1	0	2	1	1	0	11	7			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:66812954G>A	ENST00000307897.5	+	6	927	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000565627.1_Missense_Mutation_p.E69K|ZWILCH_ENST00000535141.2_Missense_Mutation_p.E69K|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.E69K|RPL4_ENST00000568588.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	183					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGTAAATCTTGAAAACCTAAA	0.299													18	56					0	0	0	0	A	66812954	G	A	66812954	3	1	509	1	0	0	0	0	1	0	0	0	18339	1291	45	2	569	2	ZWILCH	15	66812954	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	16589597	66812954	35718438	185	98251											
CORO2B	10391	broad.mit.edu	37	chr15	69006964	69006964	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcctcctgttccccttcTatgatgctgacacccacatg	6	12	7	16	0	1	2	0	2	1	0	3	2	3	2	5	1	1	2	5	1	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:69006964T>C	ENST00000543950.1	+	7	1171	c.817T>C	c.(817-819)Tat>Cat	p.Y273H	CORO2B_ENST00000540068.1_Missense_Mutation_p.Y273H|CORO2B_ENST00000261861.5_Missense_Mutation_p.Y273H|CORO2B_ENST00000566799.1_Missense_Mutation_p.Y278H	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	278					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTTCCCCTTCTATGATGCTGA	0.602													54	151					0	0	0	0	C	69006964	T	C	69006964	3	2	509	1	0	0	0	0	1	0	0	0	3787	1522	53	5	858	5	CORO2B	15	69006964	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	2194010	69006964	33524428	186	98252											
CSK	1445	broad.mit.edu	37	chr15	75094370	75094370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtctgacgtgtggagtttCggaatccttctctgggaaat	9	13	12	7	2	2	1	0	1	2	0	5	4	3	4	1	3	0	1	1	3	3	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:75094370C>T	ENST00000220003.9	+	12	1845	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CSK_ENST00000567571.1_Silent_p.F372F|CSK_ENST00000439220.2_Silent_p.F372F|CSK_ENST00000309470.9_Silent_p.F372F	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	372	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						TGTGGAGTTTCGGAATCCTTC	0.542													36	124					0	0	0	0	T	75094370	C	T	75094370	2	4	509	1	0	0	0	0	0	0	0	1	3975	883	31	1		1	CSK	15	75094370	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	6087406	75094370	27437022	187	98253											
NR2F2	7026	broad.mit.edu	37	chr15	96877672	96877672	+	Silent	SNP	G	G	T																															ctccacgtcgccccgctcctGgccgccgccggcctgcatgc																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877672G>T	ENST00000394166.3	+	2	2199	c.810G>T	c.(808-810)ctG>ctT	p.L270L	NR2F2_ENST00000453270.2_Silent_p.L117L|NR2F2_ENST00000421109.2_Silent_p.L137L|NR2F2_ENST00000394171.2_Silent_p.L117L	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	270	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCCCGCTCCTGGCCGCCGCCG	0.642													7	57					8.12818e-05	8.62267e-05	1	0	T	96877672	G	T	96877672	2	4	509	1	0	0	0	0	0	0	0	1	10699	1335	47	4		4	NR2F2	15	96877672	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	21783302	96877672	5653720	188	98254	1170	3									
NR2F2	7026	broad.mit.edu	37	chr15	96877674	96877674	+	Missense_Mutation	SNP	C	C	G																															ccacgtcgccccgctcctggCcgccgccggcctgcatgctt																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877674C>G	ENST00000394166.3	+	2	2201	c.812C>G	c.(811-813)gCc>gGc	p.A271G	NR2F2_ENST00000453270.2_Missense_Mutation_p.A118G|NR2F2_ENST00000421109.2_Missense_Mutation_p.A138G|NR2F2_ENST00000394171.2_Missense_Mutation_p.A118G	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	271	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCGCTCCTGGCCGCCGCCGGC	0.647													7	53					0	0	0	0	G	96877674	C	G	96877674	3	3	509	1	0	0	0	0	1	0	0	0	10699	739	26	4	865	4	NR2F2	15	96877674	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	2	96877674	5653718	189	98255	1170	3									
NR2F2	7026	broad.mit.edu	37	chr15	96877676	96877676	+	Missense_Mutation	SNP	G	G	C																															acgtcgccccgctcctggccGccgccggcctgcatgcttcg																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877676G>C	ENST00000394166.3	+	2	2203	c.814G>C	c.(814-816)Gcc>Ccc	p.A272P	NR2F2_ENST00000453270.2_Missense_Mutation_p.A119P|NR2F2_ENST00000421109.2_Missense_Mutation_p.A139P|NR2F2_ENST00000394171.2_Missense_Mutation_p.A119P	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	272	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTCCTGGCCGCCGCCGGCCT	0.652													8	53					0	0	0	0	C	96877676	G	C	96877676	3	2	509	1	0	0	0	0	1	0	0	0	10699	1087	38	3	867	3	NR2F2	15	96877676	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	2	96877676	5653716	190	98256	1170	3									
CEMP1	752014	broad.mit.edu	37	chr16	2580737	2580737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccagggaagaaccacCtgcctgggcagggcctcgcc	10	3	13	15	1	0	1	0	0	0	1	1	2	0	2	6	3	4	1	6	3	3	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:2580737C>T	ENST00000382350.1	-	1	683	c.338G>A	c.(337-339)aGg>aAg	p.R113K	AMDHD2_ENST00000413459.3_Silent_p.L588L|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000567119.1_Missense_Mutation_p.R113K|AMDHD2_ENST00000302956.4_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	113						cytoplasm				lung(1)|skin(1)	2						GAAGAACCACCTGCCTGGGCA	0.632													5	24					0	0	0	0	T	2580737	C	T	2580737	3	4	509	1	0	0	0	0	1	0	0	0	3253	681	24	4	409	4	CEMP1	16	2580737	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		2580737	87774016	191	98257											
CDR2	1039	broad.mit.edu	37	chr16	22358367	22358367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgatgcaactaaagatCtccttaaacaacgctttgta	13	14	5	9	1	2	2	0	1	2	1	3	2	2	2	1	0	4	3	1	0	7	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:22358367C>T	ENST00000268383.2	-	5	1591	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	428						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACTAAAGATCTCCTTAAACA	0.458													38	72					0	0	0	0	T	22358367	C	T	22358367	2	4	509	1	0	0	0	0	0	0	0	1	3201	912	32	2		2	CDR2	16	22358367	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	19777630	22358367	67996386	192	98258											
WDR59	79726	broad.mit.edu	37	chr16	74946248	74946248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacactgtgcagctcctgtCtgccgcatccatctgcaaga	9	9	9	14	1	2	2	0	0	2	2	4	2	4	2	3	0	4	4	3	0	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:74946248C>G	ENST00000262144.6	-	14	1367	c.1237G>C	c.(1237-1239)Gac>Cac	p.D413H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	413	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGCTCCTGTCTGCCGCATCC	0.502													26	54					0	0	0	0	G	74946248	C	G	74946248	3	3	509	1	0	0	0	0	1	0	0	0	17404	913	32	2	1739	2	WDR59	16	74946248	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	52587881	74946248	15408505	193	98259											
OSGIN1	29948	broad.mit.edu	37	chr16	83992930	83992930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacaccctacacgaagccaGatgccatccacccacacccc	13	3	4	21	1	0	1	0	0	0	1	1	2	1	1	7	0	3	0	7	0	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:83992930G>A	ENST00000343939.2	+	4	765	c.382G>A	c.(382-384)Gat>Aat	p.D128N	OSGIN1_ENST00000361711.3_Missense_Mutation_p.D45N|OSGIN1_ENST00000565123.1_Missense_Mutation_p.D45N|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D45N			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	128					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CACGAAGCCAGATGCCATCCA	0.657													22	42					0	0	0	0	A	83992930	G	A	83992930	3	1	509	1	0	0	0	0	1	0	0	0	11360	942	33	2	396	2	OSGIN1	16	83992930	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	9046682	83992930	6361823	194	98260											
FAM92B	339145	broad.mit.edu	37	chr16	85143886	85143900	+	In_Frame_Del	DEL	GGTGGCCCGCAGCTC	GGTGGCCCGCAGCTC	-																															tcctcagcgaagcccctcatGgtggcccgcagctcggggtt																								rs35834733		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:85143886_85143900delGGTGGCCCGCAGCTC	ENST00000539556.1	-	2	342_356	c.187_201delGAGCTGCGGGCCACC	c.(187-201)del	p.ELRAT63del		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	63										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGCCCCTCATGGTGGCCCGCAGCTCGGGGTTCTCG	0.679													8	52	---	---	---	---					-	85143900	GGTGGCCCGCAGCTC	-	85143886	7	5	509	1	0	1	0	1	0	0	0	0	5698	1335	47	0	741	0	FAM92B	16	85143886	In_Frame_Del	DEL	GGTGGCCCGCAGCTC	TCGA-WA-A7GZ-01A-11D-A34J-08	1150956	85143886	5210867	195	98261											
ITGAE	3682	broad.mit.edu	37	chr17	3638150	3638150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggtttctggggtaattCaaggccatgcttgtcatgta	8	14	12	7	0	3	0	2	0	1	0	3	0	3	0	1	4	2	5	1	4	3	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:3638150C>G	ENST00000263087.4	-	21	2714	c.2616G>C	c.(2614-2616)ttG>ttC	p.L872F	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	872					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGGGGTAATTCAAGGCCATGC	0.542													77	166					0	0	0	0	G	3638150	C	G	3638150	3	3	509	1	0	0	0	0	1	0	0	0	7938	825	29	2	967	2	ITGAE	17	3638150	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		3638150	77557060	196	98262											
SPAG7	9552	broad.mit.edu	37	chr17	4863018	4863027	+	Frame_Shift_Del	DEL	CCTCTCCCAG	CCTCTCCCAG	-																															ctcctgccgcatcctatgctCctctcccagccacccccagc																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:4863018_4863027delCCTCTCCCAG	ENST00000575142.1	-	6	587_596	c.569_578delCTGGGAGAGG	c.(568-579)gafs	p.AGRG190fs	SPAG7_ENST00000206020.3_Intron|SPAG7_ENST00000573366.1_Intron			O75391	SPAG7_HUMAN	sperm associated antigen 7	0						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ATCCTATGCTCCTCTCCCAGCCACCCCCAG	0.633													38	183	---	---	---	---					-	4863027	CCTCTCCCAG	-	4863018	7	5	509	1	0	1	0	1	0	0	0	0	15073	870	30	0		0	SPAG7	17	4863018	Frame_Shift_Del	DEL	CCTCTCCCAG	TCGA-WA-A7GZ-01A-11D-A34J-08	1224868	4863018	76332192	197	98263											
SPAG7	9552	broad.mit.edu	37	chr17	4863350	4863351	+	Frame_Shift_Ins	INS	-	-	T																															tctcctcagccttctgggggINStcccattcctctccacgacg																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:4863350_4863351insT	ENST00000573366.1	-	5	1088_1089	c.230_231insA	c.(229-231)gccfs	p.A77fs	SPAG7_ENST00000206020.3_Frame_Shift_Ins_p.A128fs|SPAG7_ENST00000575142.1_Frame_Shift_Ins_p.A117fs			O75391	SPAG7_HUMAN	sperm associated antigen 7	128	R3H.					nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CCTTCTGGGGGTCCCATTCCTC	0.554													59	183	---	---	---	---					T	4863351	-	T	4863350	7	5	509	1	0	1	1	0	0	0	0	0	15073	1252	44	0	311	0	SPAG7	17	4863350	Frame_Shift_Ins	INS	-	TCGA-WA-A7GZ-01A-11D-A34J-08	332	4863350	76331860	198	98264											
DERL2	51009	broad.mit.edu	37	chr17	5389406	5389406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccacggcggcggtggtgaGgacgcaggcagtggtgtagg	7	5	20	9	4	0	1	0	1	0	0	0	2	0	2	1	8	0	3	1	8	1	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:5389406G>C	ENST00000158771.4	-	1	131	c.76C>G	c.(76-78)Ctc>Gtc	p.L26V	DERL2_ENST00000570848.1_Missense_Mutation_p.L26V|DERL2_ENST00000571968.1_Intron|DERL2_ENST00000572834.1_Missense_Mutation_p.L26V	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	26					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						GCGGTGGTGAGGACGCAGGCA	0.642													22	49					0	0	0	0	C	5389406	G	C	5389406	3	2	509	1	0	0	0	0	1	0	0	0	4484	1000	35	4	671	4	DERL2	17	5389406	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	526056	5389406	75805804	199	98265											
KIAA0753	9851	broad.mit.edu	37	chr17	6498368	6498368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgacgaacagactcctgGtatttctttaaaaaaaaaga	16	12	6	7	1	1	3	0	1	1	2	2	4	2	3	1	1	1	1	1	1	7	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:6498368G>A	ENST00000361413.3	-	16	2722	c.2364C>T	c.(2362-2364)taC>taT	p.Y788Y	KIAA0753_ENST00000542606.1_Silent_p.Y489Y|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000589033.1_Silent_p.Y244Y|KIAA0753_ENST00000572370.1_Silent_p.Y489Y	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	788						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CAGACTCCTGGTATTTCTTTA	0.328													17	52					0	0	0	0	A	6498368	G	A	6498368	2	1	509	1	0	0	0	0	0	0	0	1	8242	1256	44	4		4	KIAA0753	17	6498368	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	1108962	6498368	74696842	200	98266											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:7578271T>G	ENST00000420246.2	-	6	710	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000269305.4_Missense_Mutation_p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			27	34					0	0	0	0	G	7578271	T	G	7578271	3	3	509	1	0	0	0	0	1	0	0	0	16476	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	1079903	7578271	73616939	201	98267											
MYH13	8735	broad.mit.edu	37	chr17	10265714	10265714	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagcgctctttgaggttgTacagaacagcaggttcatgc	10	11	11	9	1	2	2	1	1	1	1	2	2	2	2	0	2	5	5	0	2	3	5	rs145355767	by1000genomes	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:10265714T>A	ENST00000418404.3	-	3	474	c.311A>T	c.(310-312)tAc>tTc	p.Y104F	MYH13_ENST00000252172.4_Missense_Mutation_p.Y104F|MYH13_ENST00000570743.1_Missense_Mutation_p.Y104F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	104	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTGAGGTTGTACAGAACAGC	0.453													54	131					0	0	0	0	A	10265714	T	A	10265714	3	1	509	1	0	0	0	0	1	0	0	0	10102	1638	57	5	5657	5	MYH13	17	10265714	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	2687443	10265714	70929496	202	98268											
TAF15	8148	broad.mit.edu	37	chr17	34165524	34165524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtgtcatttgatgaccctCcttcagctaaggcagccatt	9	12	8	12	0	2	2	2	2	0	0	3	2	3	2	3	1	2	2	3	1	1	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:34165524C>T	ENST00000588240.1	+	11	995	c.880C>T	c.(880-882)Cct>Tct	p.P294S	TAF15_ENST00000311979.3_Missense_Mutation_p.P291S|TAF15_ENST00000592237.1_Missense_Mutation_p.P203S	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	294	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGATGACCCTCCTTCAGCTAA	0.408			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								14	166					0	0	0	0	T	34165524	C	T	34165524	3	4	509	1	0	0	0	0	1	0	0	0	15609	855	30	2	922	2	TAF15	17	34165524	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	23899810	34165524	47029686	203	98269											
C17orf66	256957	broad.mit.edu	37	chr17	34186002	34186002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggctgcctccagagatgCttcactggacgacttcttga	8	10	11	12	1	2	2	1	1	1	1	3	5	3	3	2	2	2	2	2	2	0	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:34186002C>T	ENST00000311880.2	-	9	977	c.829G>A	c.(829-831)Gca>Aca	p.A277T	C17orf66_ENST00000592980.1_Missense_Mutation_p.A237T	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	277							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCAGAGATGCTTCACTGGAC	0.552													14	56					0	0	0	0	T	34186002	C	T	34186002	3	4	509	1	0	0	0	0	1	0	0	0	1889	797	28	4	911	4	C17orf66	17	34186002	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	20478	34186002	47009208	204	98270											
KCNH4	23415	broad.mit.edu	37	chr17	40317679	40317679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggctcctgccccggctCagggatatctgctccaatca	7	8	9	17	1	3	0	2	0	1	0	5	1	5	1	5	3	2	3	5	3	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:40317679C>G	ENST00000264661.3	-	11	2205	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	KCNH4_ENST00000607371.1_Missense_Mutation_p.E625Q	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	625					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCCCCGGCTCAGGGATATCT	0.577													12	38					0	0	0	0	G	40317679	C	G	40317679	3	3	509	1	0	0	0	0	1	0	0	0	8087	835	29	2	1204	2	KCNH4	17	40317679	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	6131677	40317679	40877531	205	98271											
FAM134C	162427	broad.mit.edu	37	chr17	40734139	40734139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggggcctggggctcctCagcccctggcggagaacggt	5	6	18	12	2	1	1	1	0	0	1	2	2	2	1	4	8	2	1	4	8	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:40734139C>G	ENST00000309428.5	-	9	1152	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	FAM134C_ENST00000543197.1_Missense_Mutation_p.E170Q|FAM134C_ENST00000585894.1_Missense_Mutation_p.E268Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	365						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TGGGGCTCCTCAGCCCCTGGC	0.607													31	66					0	0	0	0	G	40734139	C	G	40734139	3	3	509	1	0	0	0	0	1	0	0	0	5488	835	29	2	311	2	FAM134C	17	40734139	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	416460	40734139	40461071	206	98272											
KIF2B	84643	broad.mit.edu	37	chr17	51901823	51901823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattaacaagagtcttctaGccctcaaagaatgtattctg	14	12	7	8	0	4	3	1	0	3	3	4	3	4	3	1	0	2	1	1	0	6	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:51901823G>A	ENST00000268919.4	+	1	1585	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	477					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTCTTCTAGCCCTCAAAGA	0.507													13	38					0	0	0	0	A	51901823	G	A	51901823	3	1	509	1	0	0	0	0	1	0	0	0	8349	971	34	4	1431	4	KIF2B	17	51901823	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	11167684	51901823	29293387	207	98273											
ITGB4	3691	broad.mit.edu	37	chr17	73736880	73736880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttgcctggcagctgaacGaggtctacaggcagatctcc	8	8	11	14	1	2	2	0	1	2	1	3	3	2	2	3	3	4	3	3	3	2	2	rs144402600	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:73736880G>A	ENST00000200181.3	+	22	2744	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.E853K|ITGB4_ENST00000450894.3_Missense_Mutation_p.E853K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E853K|ITGB4_ENST00000339591.3_Missense_Mutation_p.E853K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	853					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCTGAACGAGGTCTACAG	0.687													5	67					0	0	0	0	A	73736880	G	A	73736880	3	1	509	1	0	0	0	0	1	0	0	0	7950	1059	37	1	2639	1	ITGB4	17	73736880	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	21835057	73736880	7458330	208	98274											
TBC1D16	125058	broad.mit.edu	37	chr17	77921583	77921583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaggtccgacatcccttggGaatagccgacggcagggttg	8	7	14	12	3	0	0	0	0	0	0	2	3	2	1	4	4	1	2	4	4	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:77921583G>C	ENST00000310924.2	-	9	1704	c.1589C>G	c.(1588-1590)tCc>tGc	p.S530C	TBC1D16_ENST00000340848.7_Missense_Mutation_p.S168C|TBC1D16_ENST00000570373.1_Missense_Mutation_p.S169C|TBC1D16_ENST00000572862.1_Missense_Mutation_p.S168C|TBC1D16_ENST00000576768.1_Missense_Mutation_p.S155C	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	530	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CATCCCTTGGGAATAGCCGAC	0.607													12	29					0	0	0	0	C	77921583	G	C	77921583	3	2	509	1	0	0	0	0	1	0	0	0	15696	1174	41	2	730	2	TBC1D16	17	77921583	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	4184703	77921583	3273627	209	98275											
WDR7	23335	broad.mit.edu	37	chr18	54606602	54606602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaaaagaaaggtcttcaaGaatgtttcccagccatctgc	14	11	7	9	0	3	2	1	0	2	2	4	2	4	2	2	1	2	1	2	1	6	3	rs140089798	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr18:54606602G>C	ENST00000254442.3	+	25	4253	c.4042G>C	c.(4042-4044)Gaa>Caa	p.E1348Q	WDR7_ENST00000357574.3_Missense_Mutation_p.E1315Q|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1348										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTCTTCAAGAATGTTTCCC	0.303													15	146					0	0	0	0	C	54606602	G	C	54606602	3	2	509	1	0	0	0	0	1	0	0	0	17416	943	33	2	4136	2	WDR7	18	54606602	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08		54606602	23470646	210	98276											
SMARCA4	6597	broad.mit.edu	37	chr19	11106910	11106910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgaggaggggtacCgcaagctcatcgaccagaag	13	5	14	9	2	1	4	1	2	0	2	2	6	1	5	2	3	2	3	2	3	4	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:11106910C>T	ENST00000358026.2	+	10	1899	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	SMARCA4_ENST00000413806.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R539C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R539C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R539C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R539C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	539					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R539C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGAGGGGTACCGCAAGCTCAT	0.557			"F, N, Mis"		NSCLC								43	120					0	0	0	0	T	11106910	C	T	11106910	3	4	509	1	0	0	0	0	1	0	0	0	14858	652	23	1	1649	1	SMARCA4	19	11106910	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		11106910	48022073	211	98277											
DOCK6	57572	broad.mit.edu	37	chr19	11364313	11364314	+	Splice_Site	INS	-	-	C																															gcggaccccccaaatacttaINScccccagggagctgctgcag																										TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:11364313_11364314insC	ENST00000294618.7	-	2	144		c.e2+1			NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCAAATACTTACCCCCAGGGAG	0.663													2	4	---	---	---	---					C	11364314	-	C	11364313	8	5	509	1	0	1	1	0	0	0	1	0	4727	405	14	0	6197	0	DOCK6	19	11364313	Splice_Site	INS	-	TCGA-WA-A7GZ-01A-11D-A34J-08	257403	11364313	47764670	212	98278											
ZSWIM4	65249	broad.mit.edu	37	chr19	13923921	13923921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgacgtctgcccactggaaGagggcaactactccttcgac	9	8	10	14	3	1	1	0	0	1	1	4	4	2	2	2	2	3	1	2	2	3	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:13923921G>C	ENST00000254323.2	+	6	1312	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E92Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	375							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCACTGGAAGAGGGCAACTA	0.632													12	28					0	0	0	0	C	13923921	G	C	13923921	3	2	509	1	0	0	0	0	1	0	0	0	18334	943	33	2	1145	2	ZSWIM4	19	13923921	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	2559608	13923921	45205062	213	98279											
UNC13A	23025	broad.mit.edu	37	chr19	17722620	17722620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggatgagtgaacagctCaacatggacagagacttcac	13	8	10	10	0	2	3	2	2	0	1	3	6	3	5	1	2	3	1	1	2	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:17722620C>G	ENST00000428389.2	-	43	4866	c.4867G>C	c.(4867-4869)Gag>Cag	p.E1623Q	UNC13A_ENST00000519716.2_Missense_Mutation_p.E1535Q|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1554Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1529Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1508Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1535Q			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1535	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGAACAGCTCAACATGGACA	0.542													36	60					0	0	0	0	G	17722620	C	G	17722620	3	3	509	1	0	0	0	0	1	0	0	0	17080	835	29	2	520	2	UNC13A	19	17722620	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	3798699	17722620	41406363	214	98280											
ARRDC2	27106	broad.mit.edu	37	chr19	18121448	18121448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggcagagccccttcccGcttccgcaggaccccgacat	6	7	11	17	3	0	1	0	0	0	1	2	3	2	2	6	3	1	3	6	3	0	3	rs145370397		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:18121448G>A	ENST00000222250.4	+	7	1223	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	ARRDC2_ENST00000379656.2_Silent_p.P355P	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	360										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GCCCCTTCCCGCTTCCGCAGG	0.637													42	63					0	0	0	0	A	18121448	G	A	18121448	2	1	509	1	0	0	0	0	0	0	0	1	987	1074	38	1		1	ARRDC2	19	18121448	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	398828	18121448	41007535	215	98281											
RAB3A	5864	broad.mit.edu	37	chr19	18313528	18313528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactccttctgcccatagCgcgagtctgtggcggatgcc	6	9	13	13	3	2	0	0	0	2	0	3	3	3	2	3	3	3	0	3	3	1	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:18313528C>T	ENST00000222256.4	-	2	201	c.23G>A	c.(22-24)cGc>cAc	p.R8H	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	8					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCCCATAGCGCGAGTCTGT	0.587											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	134					0	0	0	0	T	18313528	C	T	18313528	3	4	509	1	0	0	0	0	1	0	0	0	13013	768	27	1	655	1	RAB3A	19	18313528	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	192080	18313528	40815455	216	98282											
ZNF99	7652	broad.mit.edu	37	chr19	22941439	22941439	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgcaGggtttctctgcagtatgaat	9	15	7	10	0	3	1	1	1	2	0	4	1	3	1	1	1	2	4	1	1	2	5			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:22941439G>C	ENST00000397104.3	-	5	998	c.999C>G	c.(997-999)ccC>ccG	p.P333P	ZNF99_ENST00000596209.1_Silent_p.P424P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGCAGGGTTTCTCTG	0.368													28	45					0	0	0	0	C	22941439	G	C	22941439	2	2	509	1	0	0	0	0	0	0	0	1	18297	987	35	4		4	ZNF99	19	22941439	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	4627911	22941439	36187544	217	98283											
GRIK5	2901	broad.mit.edu	37	chr19	42566782	42566782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcggggtgtctcctcGggacccaccttgatgtgggg	5	9	17	10	2	1	2	0	2	1	0	3	3	1	3	3	6	0	0	3	6	1	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:42566782G>A	ENST00000262895.3	-	4	365	c.366C>T	c.(364-366)ccC>ccT	p.P122P	GRIK5_ENST00000301218.4_Silent_p.P122P|GRIK5_ENST00000593562.1_Silent_p.P122P	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	122						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTGTCTCCTCGGGACCCACCT	0.622													43	103					0	0	0	0	A	42566782	G	A	42566782	2	1	509	1	0	0	0	0	0	0	0	1	6827	1103	39	1		1	GRIK5	19	42566782	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	19625343	42566782	16562201	218	98284											
KCNA7	3743	broad.mit.edu	37	chr19	49573904	49573904	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccacccctcgctgccGggccagctcggtgcccagtg	3	6	13	19	3	0	0	0	0	0	0	2	0	0	0	6	3	3	2	6	3	0	0	rs140612328		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:49573904G>T	ENST00000221444.1	-	2	1142	c.787C>A	c.(787-789)Cgg>Agg	p.R263R		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	263						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCTCGCTGCCGGGCCAGCTCG	0.567													32	75					5.90632e-09	6.46221e-09	1	0	T	49573904	G	T	49573904	2	4	509	1	0	0	0	0	0	0	0	1	8061	1115	39	3		3	KCNA7	19	49573904	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	7007122	49573904	9555079	219	98285											
KLK5	25818	broad.mit.edu	37	chr19	51453210	51453210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagcgcggcctgccacGgctgggtgtgcatatcgcag	7	6	15	13	4	0	0	0	0	0	0	1	0	0	0	2	3	4	4	2	3	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:51453210G>A	ENST00000336334.3	-	3	588	c.236C>T	c.(235-237)cCg>cTg	p.P79L	KLK5_ENST00000593428.1_Missense_Mutation_p.P79L|KLK5_ENST00000391809.2_Missense_Mutation_p.P79L	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	79	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGCCTGCCACGGCTGGGTGTG	0.652													8	34					0	0	0	0	A	51453210	G	A	51453210	3	1	509	1	0	0	0	0	1	0	0	0	8459	1116	39	1	661	1	KLK5	19	51453210	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	1879306	51453210	7675773	220	98286											
PRKCG	5582	broad.mit.edu	37	chr19	54403957	54403957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacgtcttccccgggaCgacaacccgcaccttctgcg	8	6	11	16	5	2	1	0	0	2	1	3	4	3	2	4	2	3	1	4	2	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54403957C>T	ENST00000263431.3	+	14	1811	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	PRKCG_ENST00000542049.1_Missense_Mutation_p.T397M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T510M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	510	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.T510M(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTCCCCGGGACGACAACCCGC	0.572													143	275					0	0	0	0	T	54403957	C	T	54403957	3	4	509	1	0	0	0	0	1	0	0	0	12592	536	19	1	1583	1	PRKCG	19	54403957	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	2950747	54403957	4725026	221	98287											
CACNG7	59284	broad.mit.edu	37	chr19	54417826	54417826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttggtgacggaaaacaCggagaatattctgagtgagg	14	9	13	5	2	1	4	0	3	1	1	1	6	1	5	0	4	1	0	0	4	5	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54417826C>T	ENST00000391767.1	+	3	481	c.269C>T	c.(268-270)aCg>aTg	p.T90M	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.T90M|CACNG7_ENST00000222212.2_Missense_Mutation_p.T90M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	90					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACGGAAAACACGGAGAATATT	0.547													11	38					0	0	0	0	T	54417826	C	T	54417826	3	4	509	1	0	0	0	0	1	0	0	0	2587	536	19	1	275	1	CACNG7	19	54417826	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	13869	54417826	4711157	222	98288											
TMC4	147798	broad.mit.edu	37	chr19	54673334	54673334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggacctccgaagtagccGcgcccatcggtccgtcttag	6	9	11	15	5	1	0	0	0	1	0	4	2	3	1	5	2	1	1	5	2	3	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54673334G>A	ENST00000376591.4	-	3	507	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.R120W	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	126						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGAAGTAGCCGCGCCCATCGG	0.592													15	81					0	0	0	0	A	54673334	G	A	54673334	3	1	509	1	0	0	0	0	1	0	0	0	16081	1086	38	1	1814	1	TMC4	19	54673334	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	255508	54673334	4455649	223	98289											
NLRP7	199713	broad.mit.edu	37	chr19	55449431	55449431	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactttctgcagatgacAggtgctacgggttacgtggt	7	12	12	10	2	1	2	0	1	1	1	2	2	2	2	1	3	4	3	1	3	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:55449431A>C	ENST00000446217.1	-	7	2596	c.2194T>G	c.(2194-2196)Tgt>Ggt	p.C732G	NLRP7_ENST00000448121.2_Missense_Mutation_p.C676G|NLRP7_ENST00000592784.1_Missense_Mutation_p.C704G|NLRP7_ENST00000590030.1_Missense_Mutation_p.C704G|NLRP7_ENST00000588756.1_Missense_Mutation_p.C704G|NLRP7_ENST00000328092.5_Missense_Mutation_p.C676G|NLRP7_ENST00000340844.2_Missense_Mutation_p.C704G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	704							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGCAGATGACAGGTGCTACGG	0.428													95	202					0	0	0	0	C	55449431	A	C	55449431	3	2	509	1	0	0	0	0	1	0	0	0	10552	188	7	5	1031	5	NLRP7	19	55449431	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	776097	55449431	3679552	224	98290											
PPP1R12C	54776	broad.mit.edu	37	chr19	55623899	55623899	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcggccaggtccaggggCaggtccccgtcactgttgac	6	7	14	14	2	1	1	1	1	0	0	4	2	3	1	4	5	0	2	4	5	0	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:55623899C>A	ENST00000263433.3	-	3	522	c.507G>T	c.(505-507)ctG>ctT	p.L169L	PPP1R12C_ENST00000435544.2_Silent_p.L95L|PPP1R12C_ENST00000376393.2_Silent_p.L169L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	169						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGTCCAGGGGCAGGTCCCCGT	0.716													13	32					7.93312e-07	8.57884e-07	1	0	A	55623899	C	A	55623899	2	1	509	1	0	0	0	0	0	0	0	1	12432	697	25	4		4	PPP1R12C	19	55623899	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	174468	55623899	3505084	225	98291											
ZNF583	147949	broad.mit.edu	37	chr19	56935034	56935034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaaaggcctttagtaatgGttcatttcttgctcagcatc	9	15	9	8	0	3	0	2	0	1	0	4	1	3	1	1	3	2	4	1	3	3	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:56935034G>T	ENST00000333201.9	+	5	1217	c.1007G>T	c.(1006-1008)gGt>gTt	p.G336V	ZNF583_ENST00000291598.7_Missense_Mutation_p.G336V|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTAGTAATGGTTCATTTCTT	0.423													22	62					0.00229938	0.00237602	1	0	T	56935034	G	T	56935034	3	4	509	1	0	0	0	0	1	0	0	0	18110	1261	44	4	1021	4	ZNF583	19	56935034	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	1311135	56935034	2193949	226	98292											
ZIM2	23619	broad.mit.edu	37	chr19	57290765	57290765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgacaaatcactgtatgtCtgctgtctgtctccattgca	8	15	7	11	0	4	1	1	1	3	0	5	1	4	1	1	0	2	3	1	0	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57290765C>G	ENST00000391708.3	-	11	1264	c.722G>C	c.(721-723)aGa>aCa	p.R241T	ZIM2_ENST00000601070.1_Missense_Mutation_p.R241T|ZIM2_ENST00000599935.1_Missense_Mutation_p.R241T|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R241T|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R241T	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CACTGTATGTCTGCTGTCTGT	0.502													5	156					0	0	0	0	G	57290765	C	G	57290765	3	3	509	1	0	0	0	0	1	0	0	0	17779	913	32	2	869	2	ZIM2	19	57290765	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	355731	57290765	1838218	227	98293											
PEG3	5178	broad.mit.edu	37	chr19	57328508	57328508	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtaaaggagggggagctGaggctgctcaggctgctcac	8	7	17	9	1	2	1	2	1	0	0	3	3	2	3	0	6	3	6	0	6	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57328508G>C	ENST00000326441.9	-	10	1665	c.1302C>G	c.(1300-1302)ctC>ctG	p.L434L	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.L308L|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.L310L|PEG3_ENST00000423103.2_Silent_p.L434L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	434					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGGGAGCTGAGGCTGCTCA	0.502													49	116					0	0	0	0	C	57328508	G	C	57328508	2	2	509	1	0	0	0	0	0	0	0	1	11791	1277	45	2		2	PEG3	19	57328508	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	37743	57328508	1800475	228	98294											
ZNF264	9422	broad.mit.edu	37	chr19	57716791	57716791	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcccaaagctgagctgAtctgccacctagagcatggg	9	9	11	12	0	1	3	0	2	1	1	2	3	2	3	3	1	4	4	3	1	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57716791A>T	ENST00000263095.6	+	3	601	c.187A>T	c.(187-189)Atc>Ttc	p.I63F	ZNF264_ENST00000536056.1_Missense_Mutation_p.I63F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGCTGAGCTGATCTGCCACCT	0.517													7	19					0	0	0	0	T	57716791	A	T	57716791	3	4	509	1	0	0	0	0	1	0	0	0	17899	333	12	5	197	5	ZNF264	19	57716791	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	388283	57716791	1412192	229	98295											
ZNF551	90233	broad.mit.edu	37	chr19	58196690	58196690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagtgggagctccttgatGagtctcagaggttcctgtac	9	11	13	8	0	1	4	1	2	1	2	4	5	3	5	2	2	2	3	2	2	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:58196690G>A	ENST00000282296.5	+	2	327	c.142G>A	c.(142-144)Gag>Aag	p.E48K	AC003006.7_ENST00000596085.1_Missense_Mutation_p.E32K|ZNF551_ENST00000599402.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E32K|AC003006.7_ENST00000599221.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTCCTTGATGAGTCTCAGAG	0.502													64	144					0	0	0	0	A	58196690	G	A	58196690	3	1	509	1	0	0	0	0	1	0	0	0	18078	1291	45	2	100	2	ZNF551	19	58196690	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	479899	58196690	932293	230	98296											
SNPH	9751	broad.mit.edu	37	chr20	1285872	1285872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctacaccaagctgagtgAcccggctgtctgtggtgacc	8	8	11	14	1	1	3	0	3	1	0	1	3	1	3	4	2	2	2	4	2	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:1285872A>G	ENST00000381867.1	+	7	1433	c.791A>G	c.(790-792)gAc>gGc	p.D264G	SNPH_ENST00000381873.3_Missense_Mutation_p.D220G			O15079	SNPH_HUMAN	syntaphilin	220					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGCTGAGTGACCCGGCTGTC	0.662													7	21					0	0	0	0	G	1285872	A	G	1285872	3	3	509	1	0	0	0	0	1	0	0	0	14938	275	10	5	673	5	SNPH	20	1285872	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08		1285872	61739648	231	98297											
CST5	1473	broad.mit.edu	37	chr20	23860158	23860158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccttgttgtactcgctGatggcaaagtccagggcaca	10	10	11	10	1	0	2	0	2	0	0	2	2	1	2	2	2	1	5	2	2	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:23860158G>A	ENST00000304710.4	-	1	229	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	52						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGTACTCGCTGATGGCAAAGT	0.582													58	246					0	0	0	0	A	23860158	G	A	23860158	2	1	509	1	0	0	0	0	0	0	0	1	4007	1280	45	2		2	CST5	20	23860158	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	22574286	23860158	39165362	232	98298											
ACTR5	79913	broad.mit.edu	37	chr20	37396227	37396227	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggagatgagacccttccgGtcttcttttcaggtactgat	7	15	10	9	1	3	3	1	2	2	2	4	5	4	3	2	3	1	1	2	3	1	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:37396227G>T	ENST00000243903.4	+	8	1591	c.1554G>T	c.(1552-1554)cgG>cgT	p.R518R		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	518					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GACCCTTCCGGTCTTCTTTTC	0.408													56	84					3.8688e-20	4.37003e-20	1	0	T	37396227	G	T	37396227	2	4	509	1	0	0	0	0	0	0	0	1	215	1248	44	4		4	ACTR5	20	37396227	Silent	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	13536069	37396227	25629293	233	98299											
SLC13A3	64849	broad.mit.edu	37	chr20	45221067	45221067	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagtcccccgtacaggAaggagatccagagccagcct	11	5	11	14	1	1	2	1	0	0	2	3	4	3	3	5	2	4	2	5	2	2	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:45221067A>T	ENST00000279027.4	-	6	914	c.896T>A	c.(895-897)tTc>tAc	p.F299Y	SLC13A3_ENST00000495082.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F252Y|SLC13A3_ENST00000372121.1_Missense_Mutation_p.F249Y|SLC13A3_ENST00000413164.2_Missense_Mutation_p.F249Y|SLC13A3_ENST00000472148.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000396360.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	299						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCCGTACAGGAAGGAGATCCA	0.502													24	87					0	0	0	0	T	45221067	A	T	45221067	3	4	509	1	0	0	0	0	1	0	0	0	14481	246	9	5	944	5	SLC13A3	20	45221067	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	7824840	45221067	17804453	234	98300											
ARFGEF2	10564	broad.mit.edu	37	chr20	47605040	47605040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattacaggtaaaaaataaaAtgacgaaagagcagtatatt	22	9	7	3	1	0	2	0	1	0	1	0	3	0	2	0	1	2	3	0	1	10	6			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:47605040A>G	ENST00000371917.4	+	18	2374	c.2374A>G	c.(2374-2376)Atg>Gtg	p.M792V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	792					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAAAATAAAATGACGAAAGA	0.299													63	62					0	0	0	0	G	47605040	A	G	47605040	3	3	509	1	0	0	0	0	1	0	0	0	855	101	4	5	2444	5	ARFGEF2	20	47605040	Missense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08	2383973	47605040	15420480	235	98301											
ZNFX1	57169	broad.mit.edu	37	chr20	47874151	47874151	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctctgcgatctctaTcagcgaactctcctcctccc	6	12	5	18	2	4	0	1	0	3	0	9	2	7	0	4	0	4	1	4	0	2	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:47874151T>A	ENST00000396105.1	-	8	2713	c.2467A>T	c.(2467-2469)Ata>Tta	p.I823L	ZNFX1_ENST00000371754.4_Missense_Mutation_p.I823L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.I823L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	823							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGATCTCTATCAGCGAACTc	0.527													14	63					0	0	0	0	A	47874151	T	A	47874151	3	1	509	1	0	0	0	0	1	0	0	0	18298	1435	50	5	3317	5	ZNFX1	20	47874151	Missense_Mutation	SNP	T	TCGA-WA-A7GZ-01A-11D-A34J-08	269111	47874151	15151369	236	98302											
NTSR1	4923	broad.mit.edu	37	chr20	61386124	61386124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagctgaccgtcatggtaCgccaggcggccgagcagggc	9	4	15	13	4	1	1	1	1	0	0	1	2	1	1	3	4	3	3	3	4	2	1	rs140186245		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:61386124C>T	ENST00000370501.3	+	2	1173	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	268						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.R268S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGTCATGGTACGCCAGGCGGC	0.622													59	84					0	0	0	0	T	61386124	C	T	61386124	3	4	509	1	0	0	0	0	1	0	0	0	10781	536	19	1	808	1	NTSR1	20	61386124	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	13511973	61386124	1639396	237	98303											
HUNK	30811	broad.mit.edu	37	chr21	33346916	33346916	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctgcacatgaccgagAagctgggttacaagaacagc	12	7	12	10	2	0	3	0	1	0	2	1	4	0	3	1	1	6	4	1	1	4	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr21:33346916A>T	ENST00000270112.2	+	7	1420	c.1060A>T	c.(1060-1062)Aag>Tag	p.K354*	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	354					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATGACCGAGAAGCTGGGTTA	0.562													38	92					0	0	0	0	T	33346916	A	T	33346916	4	4	509	1	0	0	0	0	0	1	0	0	7511	247	9	5	1086	5	HUNK	21	33346916	Nonsense_Mutation	SNP	A	TCGA-WA-A7GZ-01A-11D-A34J-08		33346916	14782979	238	98304											
TMPRSS6	164656	broad.mit.edu	37	chr22	37466596	37466596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcccccccacagatgtgtCgaccccgaacctggaggctg	7	5	13	16	2	0	1	0	0	0	1	1	4	0	2	6	3	1	1	6	3	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:37466596C>T	ENST00000381792.2	-	15	1909	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R599Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R590Q|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R590Q			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	599	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACAGATGTGTCGACCCCGAAC	0.672													5	83					0	0	0	0	T	37466596	C	T	37466596	3	4	509	1	0	0	0	0	1	0	0	0	16345	884	31	1	655	1	TMPRSS6	22	37466596	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		37466596	13837970	239	98305											
ATF4	468	broad.mit.edu	37	chr22	39917917	39917917	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggatgacacttgtgatctCtttgcccccctagtccagga	7	13	9	12	0	1	2	0	2	1	0	3	4	2	4	4	2	1	0	4	2	1	4			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:39917917C>G	ENST00000337304.2	+	2	1248	c.366C>G	c.(364-366)ctC>ctG	p.L122L	ATF4_ENST00000404241.2_Silent_p.L122L|ATF4_ENST00000396680.1_Silent_p.L122L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	122					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTTGTGATCTCTTTGCCCCCC	0.517													16	220					0	0	0	0	G	39917917	C	G	39917917	2	3	509	1	0	0	0	0	0	0	0	1	1086	900	32	2		2	ATF4	22	39917917	Silent	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	2451321	39917917	11386649	240	98306											
GTSE1	51512	broad.mit.edu	37	chr22	46722505	46722505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggctctcccctgtgtgtgCcagctcggagacgttcctct	3	12	12	14	2	2	1	0	0	2	1	5	2	3	1	4	2	2	3	4	2	0	1			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:46722505C>T	ENST00000454366.1	+	9	1890	c.1678C>T	c.(1678-1680)Cca>Tca	p.P560S		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	541					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTGTGTGTGCCAGCTCGGAG	0.597													13	57					0	0	0	0	T	46722505	C	T	46722505	3	4	509	1	0	0	0	0	1	0	0	0	6935	739	26	4	1708	4	GTSE1	22	46722505	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	6804588	46722505	4582061	241	98307											
CACNA1F	778	broad.mit.edu	37	chrX	49065818	49065818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgagggcctgccgcatCtcaggacccaagtcctgcag	8	6	13	14	1	1	1	1	1	1	0	3	2	2	2	4	3	2	2	4	3	1	0			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:49065818C>G	ENST00000376265.2	-	42	4951	c.4890G>C	c.(4888-4890)gaG>gaC	p.E1630D	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1565D|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1619D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1630					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTGCCGCATCTCAGGACCCA	0.572													10	9					0	0	0	0	G	49065818	C	G	49065818	3	3	509	1	0	0	0	0	1	0	0	0	2568	912	32	2	1071	2	CACNA1F	23	49065818	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08		49065818	106204742	242	98308											
ARHGEF9	23229	broad.mit.edu	37	chrX	62898400	62898400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttggagagctccatgCaagcatccaggtggttgtta	9	12	12	8	0	1	1	1	0	0	1	3	2	3	1	2	3	3	6	2	3	2	3			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:62898400C>T	ENST00000253401.6	-	5	1414	c.614G>A	c.(613-615)tGc>tAc	p.C205Y	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.C203Y|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.C103Y|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.C184Y|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.C152Y	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	205	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GAGCTCCATGCAAGCATCCAG	0.463													11	9					0	0	0	0	T	62898400	C	T	62898400	3	4	509	1	0	0	0	0	1	0	0	0	914	710	25	4	960	4	ARHGEF9	23	62898400	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	13832582	62898400	92372160	243	98309											
ATP2B3	492	broad.mit.edu	37	chrX	152815728	152815728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcagcaagggggcctcaGagatcctcttgaaaaagtga	12	9	11	9	0	4	3	2	2	2	1	5	4	5	3	2	2	1	1	2	2	3	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:152815728G>A	ENST00000370186.1	+	10	2091	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	ATP2B3_ENST00000393842.1_Missense_Mutation_p.E589K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E589K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E603K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E603K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E603K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	603					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGCCTCAGAGATCCTCTT	0.537													37	63					0	0	0	0	A	152815728	G	A	152815728	3	1	509	1	0	0	0	0	1	0	0	0	1145	943	33	2	1845	2	ATP2B3	23	152815728	Missense_Mutation	SNP	G	TCGA-WA-A7GZ-01A-11D-A34J-08	89917328	152815728	2454832	244	98310											
PNCK	139728	broad.mit.edu	37	chrX	152938024	152938024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcgaggtgcgcacctaCggagcactgcgatctcgttc	6	7	12	16	6	1	0	0	0	1	0	3	3	1	1	3	2	4	3	3	2	1	2			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:152938024C>T	ENST00000393831.2	-	3	631	c.197G>A	c.(196-198)cGt>cAt	p.R66H	PNCK_ENST00000447676.2_Missense_Mutation_p.R149H|PNCK_ENST00000370142.1_Missense_Mutation_p.R66H|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.R83H|PNCK_ENST00000370150.1_Missense_Mutation_p.R66H|PNCK_ENST00000340888.3_Missense_Mutation_p.R66H	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	66	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCGCACCTACGGAGCACTGC	0.677													80	26					0	0	0	0	T	152938024	C	T	152938024	3	4	509	1	0	0	0	0	1	0	0	0	12217	536	19	1	870	1	PNCK	23	152938024	Missense_Mutation	SNP	C	TCGA-WA-A7GZ-01A-11D-A34J-08	122296	152938024	2332536	245	98311											
TAS1R1	80835	broad.mit.edu	37	chr1	6639024	6639024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgtgcttgctacgccagGccctctttgcccttggtttc	2	14	10	15	2	1	0	0	0	1	0	2	0	1	0	3	2	5	3	3	2	1	5			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:6639024G>A	ENST00000333172.6	+	6	2099	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T	TAS1R1_ENST00000351136.3_Missense_Mutation_p.A382T|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	636					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCTACGCCAGGCCCTCTTTGC	0.537													14	131					0	0	0	0	A	6639024	G	A	6639024	3	1	510	1	0	0	0	0	1	0	0	0	15653	1203	42	4	1928	4	TAS1R1	1	6639024	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		6639024	242611597	1	98312											
VPS13D	55187	broad.mit.edu	37	chr1	12294403	12294403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaacactgaccagctctCagttgcacttctcaaaggtg	10	10	8	13	0	2	2	2	2	2	0	4	2	2	2	2	1	3	3	2	1	2	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:12294403C>T	ENST00000358136.3	+	2	210	c.80C>T	c.(79-81)tCa>tTa	p.S27L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S27L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	27					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GACCAGCTCTCAGTTGCACTT	0.393													7	107					0	0	0	0	T	12294403	C	T	12294403	3	4	510	1	0	0	0	0	1	0	0	0	17288	838	29	2	82	2	VPS13D	1	12294403	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	5655379	12294403	236956218	2	98313											
WASF2	10163	broad.mit.edu	37	chr1	27742575	27742575	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagggtctgtgtagaatttGagtgcctcttttccatcgtc	7	15	11	8	1	2	2	0	1	2	1	5	3	3	2	2	1	1	1	2	1	3	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:27742575G>C	ENST00000430629.2	-	5	656	c.441C>G	c.(439-441)ctC>ctG	p.L147L	WASF2_ENST00000536657.1_Silent_p.L147L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	147					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGTAGAATTTGAGTGCCTCTT	0.433													25	120					0	0	0	0	C	27742575	G	C	27742575	2	2	510	1	0	0	0	0	0	0	0	1	17349	1277	45	2		2	WASF2	1	27742575	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	15448172	27742575	221508046	3	98314											
RPA2	6118	broad.mit.edu	37	chr1	28233480	28233480	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtccatgggtgcagctgTcatgtcatctattttgtaaa	10	14	9	8	1	3	0	2	0	1	0	4	0	4	0	1	1	3	3	1	1	4	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:28233480T>C	ENST00000373912.3	-	4	591	c.292A>G	c.(292-294)Aca>Gca	p.T98A	RPA2_ENST00000313433.7_Missense_Mutation_p.T186A|RPA2_ENST00000373909.3_Missense_Mutation_p.T106A	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	98	Asp/Glu-rich (acidic).				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCAGCTGTCATGTCATCT	0.423								Direct reversal of damage;Nucleotide excision repair (NER)					12	65					0	0	0	0	C	28233480	T	C	28233480	3	2	510	1	0	0	0	0	1	0	0	0	13622	1667	58	5	544	5	RPA2	1	28233480	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	490905	28233480	221017141	4	98315											
PTCH2	8643	broad.mit.edu	37	chr1	45294893	45294893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaggcctgaggccaccGccagggccaccagcagtacc	9	2	12	18	1	0	1	0	1	0	0	0	1	0	1	8	3	2	2	8	3	2	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:45294893G>A	ENST00000447098.2	-	10	1318	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V	PTCH2_ENST00000372192.3_Missense_Mutation_p.A436V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	436	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.A436V(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGAGGCCACCGCCAGGGCCAC	0.672									Basal Cell Nevus syndrome				4	52					0	0	0	0	A	45294893	G	A	45294893	3	1	510	1	0	0	0	0	1	0	0	0	12810	1087	38	1	2376	1	PTCH2	1	45294893	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	17061413	45294893	203955728	5	98316											
CCDC18	343099	broad.mit.edu	37	chr1	93682201	93682201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgttttcagatgacaaaGaaatgttctcaacttttaac	14	15	6	6	0	2	3	2	1	1	2	3	3	2	3	0	0	2	2	0	0	4	5			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:93682201G>C	ENST00000343253.7	+	13	2227	c.1725G>C	c.(1723-1725)aaG>aaC	p.K575N	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.K375N|CCDC18_ENST00000557479.1_Missense_Mutation_p.K694N|CCDC18_ENST00000401026.3_Missense_Mutation_p.K576N			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	575										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGATGACAAAGAAATGTTCTC	0.313													7	118					0	0	0	0	C	93682201	G	C	93682201	3	2	510	1	0	0	0	0	1	0	0	0	2820	933	33	2	2132	2	CCDC18	1	93682201	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	48387308	93682201	155568420	6	98317											
COL11A1	1301	broad.mit.edu	37	chr1	103455097	103455097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaccttttagacccatgtCacctttgaatcctggaaaac	11	12	6	12	0	2	2	2	1	0	1	3	3	3	3	4	1	1	0	4	1	4	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:103455097C>T	ENST00000358392.2	-	29	2724	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D752N|COL11A1_ENST00000370096.3_Missense_Mutation_p.D791N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D675N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	791	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCCATGTCACCTTTGAAT	0.289													4	81					0	0	0	0	T	103455097	C	T	103455097	3	4	510	1	0	0	0	0	1	0	0	0	3697	826	29	2	3205	2	COL11A1	1	103455097	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	9772896	103455097	145795524	7	98318											
CHD1L	9557	broad.mit.edu	37	chr1	146736116	146736116	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcctgttgaccggaacTcccatccagaacagcctcca	10	8	7	16	1	1	2	0	1	1	1	5	3	4	3	6	1	3	1	6	1	2	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:146736116T>A	ENST00000369258.4	+	7	632	c.612T>A	c.(610-612)acT>acA	p.T204T	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000431239.1_Silent_p.T204T	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	204	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGACCGGAACTCCCATCCAGA	0.428													5	57					0	0	0	0	A	146736116	T	A	146736116	2	1	510	1	0	0	0	0	0	0	0	1	3353	1538	54	5		5	CHD1L	1	146736116	Silent	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	43281019	146736116	102514505	8	98319											
ARNT	405	broad.mit.edu	37	chr1	150808764	150808764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cataactctcacctgtcaggGcattttctgaagtggaaagc	11	11	9	10	0	3	1	2	1	2	0	4	2	3	2	1	2	2	1	1	2	3	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:150808764G>A	ENST00000358595.5	-	7	892	c.692C>T	c.(691-693)gCc>gTc	p.A231V	ARNT_ENST00000515192.1_Missense_Mutation_p.A222V|ARNT_ENST00000505755.1_Missense_Mutation_p.A216V|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.A231V	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	231	PAS 1.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTGTCAGGGCATTTTCTGA	0.418			T	ETV6	AML								4	97					0	0	0	0	A	150808764	G	A	150808764	3	1	510	1	0	0	0	0	1	0	0	0	969	1203	42	4	1741	4	ARNT	1	150808764	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	4072648	150808764	98441857	9	98320											
TCHH	7062	broad.mit.edu	37	chr1	152083709	152083709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcctctcttcctcctcctCgcgcttcagccgctgctcgc	2	11	8	20	4	2	0	1	0	1	0	8	1	5	0	5	0	3	3	5	0	0	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:152083709C>T	ENST00000368804.1	-	2	1983	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	662	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCCTCGCGCTTCAGC	0.667													7	157					0	0	0	0	T	152083709	C	T	152083709	3	4	510	1	0	0	0	0	1	0	0	0	15794	893	31	1	3851	1	TCHH	1	152083709	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	1274945	152083709	97166912	10	98321											
TNFSF4	7292	broad.mit.edu	37	chr1	173176258	173176258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagcaatagcttgttcctctCgaatcttggcctggctgcat	7	13	9	12	1	2	0	0	0	2	0	4	1	3	0	2	2	3	5	2	2	3	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:173176258C>G	ENST00000281834.3	-	1	194	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	20					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TTGTTCCTCTCGAATCTTGGC	0.512													4	85					0	0	0	0	G	173176258	C	G	173176258	3	3	510	1	0	0	0	0	1	0	0	0	16404	893	31	3	505	3	TNFSF4	1	173176258	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	21092549	173176258	76074363	11	98322											
OBSCN	84033	broad.mit.edu	37	chr1	228479702	228479702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaggtggcccctgtggagtgGaggaaggggcccgagaacct	9	5	18	9	1	0	1	0	0	0	1	0	5	0	4	4	7	1	0	4	7	3	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:228479702G>C	ENST00000570156.2	+	44	11804	c.11730G>C	c.(11728-11730)tgG>tgC	p.W3910C	OBSCN_ENST00000284548.11_Missense_Mutation_p.W3481C|OBSCN_ENST00000422127.1_Missense_Mutation_p.W3481C|OBSCN_ENST00000359599.6_Missense_Mutation_p.W2328C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W600C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W600C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2948	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTGGAGTGGAGGAAGGGGC	0.612													7	114					0	0	0	0	C	228479702	G	C	228479702	3	2	510	1	0	0	0	0	1	0	0	0	10883	1183	41	2	10593	2	OBSCN	1	228479702	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	55303444	228479702	20770919	12	98323											
FMN2	56776	broad.mit.edu	37	chr1	240256629	240256629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcgcctagccagcgctGtttcaagccctacccgctca	6	7	8	20	4	2	0	2	0	0	0	2	0	2	0	6	0	4	3	6	0	3	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:240256629G>A	ENST00000319653.9	+	1	1450	c.1220G>A	c.(1219-1221)tGt>tAt	p.C407Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	407					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCCAGCGCTGTTTCAAGCCC	0.692													7	58					0	0	0	0	A	240256629	G	A	240256629	3	1	510	1	0	0	0	0	1	0	0	0	5995	1377	48	4	1222	4	FMN2	1	240256629	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	11776927	240256629	8993992	13	98324											
OR2M5	127059	broad.mit.edu	37	chr1	248308964	248308964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctactgtgggtctcGggaaatagcccacttcttct	6	14	8	13	1	4	0	0	0	4	0	6	1	4	1	2	2	2	0	2	2	3	5			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:248308964G>T	ENST00000366476.1	+	1	515	c.515G>T	c.(514-516)cGg>cTg	p.R172L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428													35	492					1.36161e-19	1.50426e-19	1	0	T	248308964	G	T	248308964	3	4	510	1	0	0	0	0	1	0	0	0	11084	1116	39	3	517	3	OR2M5	1	248308964	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	8052335	248308964	941657	14	98325											
OR2T2	401992	broad.mit.edu	37	chr1	248616785	248616785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctgactgtccacaggatGaactctgctgagggccggcg	7	8	13	13	2	1	3	0	3	1	0	3	4	3	4	3	3	2	1	3	3	1	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:248616785G>A	ENST00000342927.3	+	1	709	c.687G>A	c.(685-687)atG>atA	p.M229I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCACAGGATGAACTCTGCTG	0.547													7	101					0	0	0	0	A	248616785	G	A	248616785	3	1	510	1	0	0	0	0	1	0	0	0	11091	1290	45	2	689	2	OR2T2	1	248616785	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	307821	248616785	633836	15	98326											
LAPTM4A	9741	broad.mit.edu	37	chr2	20237127	20237127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaataggtgagagaactaaTagcaaccaggcaactgagga	18	5	11	7	0	0	3	0	2	0	1	0	5	0	4	1	3	4	2	1	3	7	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:20237127T>C	ENST00000175091.4	-	4	889	c.382A>G	c.(382-384)Att>Gtt	p.I128V		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	128					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAACTAATAGCAACCAGG	0.343													10	69					0	0	0	0	C	20237127	T	C	20237127	3	2	510	1	0	0	0	0	1	0	0	0	8677	1406	49	5	335	5	LAPTM4A	2	20237127	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08		20237127	222962246	16	98327											
USP34	9736	broad.mit.edu	37	chr2	61433915	61433915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctctgaagataagggCgtgtagacttcaaaaccgaa	13	11	9	8	2	2	3	1	1	1	2	3	4	2	3	1	1	1	1	1	1	6	5			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:61433915C>T	ENST00000398571.2	-	71	9102	c.9026G>A	c.(9025-9027)cGc>cAc	p.R3009H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3009					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGATAAGGGCGTGTAGACTT	0.393													7	77					0	0	0	0	T	61433915	C	T	61433915	3	4	510	1	0	0	0	0	1	0	0	0	17161	768	27	1	1654	1	USP34	2	61433915	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	41196788	61433915	181765458	17	98328											
NFU1	27247	broad.mit.edu	37	chr2	69627666	69627666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctccatcttcctgcacagTtggcctgtgaggtcaaagaa	9	10	9	13	0	2	2	1	1	1	1	4	2	4	2	4	2	1	2	4	2	2	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:69627666T>C	ENST00000410022.2	-	7	755	c.550A>G	c.(550-552)Act>Gct	p.T184A	NFU1_ENST00000303698.3_Missense_Mutation_p.T160A|NFU1_ENST00000394305.1_Missense_Mutation_p.T43A|NFU1_ENST00000471185.1_Intron|NFU1_ENST00000462320.1_Missense_Mutation_p.T43A	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	184	NifU.				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TCCTGCACAGTTGGCCTGTGA	0.358													12	191					0	0	0	0	C	69627666	T	C	69627666	3	2	510	1	0	0	0	0	1	0	0	0	10456	1725	60	5	222	5	NFU1	2	69627666	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	8193751	69627666	173571707	18	98329											
GLI2	2736	broad.mit.edu	37	chr2	121746944	121746944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggaatgaggtgagctccGgcaccgtagacgccctggcc	8	6	15	12	3	0	3	0	2	0	1	1	4	1	4	4	4	1	3	4	4	2	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:121746944G>A	ENST00000452319.1	+	14	3514	c.3454G>A	c.(3454-3456)Ggc>Agc	p.G1152S	GLI2_ENST00000361492.4_Missense_Mutation_p.G1152S|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1152					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1152S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGTGAGCTCCGGCACCGTAGA	0.632													7	41					0	0	0	0	A	121746944	G	A	121746944	3	1	510	1	0	0	0	0	1	0	0	0	6489	1116	39	1	3504	1	GLI2	2	121746944	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	52119278	121746944	121452429	19	98330											
COBLL1	22837	broad.mit.edu	37	chr2	165551851	165551851	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctacaggaggcaaaagaTcatcattaccatgtgcacaa	16	9	7	9	0	3	1	2	0	1	1	3	2	3	2	1	2	3	2	1	2	6	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:165551851T>A	ENST00000375458.2	-	11	2272	c.2051A>T	c.(2050-2052)gAt>gTt	p.D684V	COBLL1_ENST00000392717.2_Missense_Mutation_p.D760V|COBLL1_ENST00000342193.4_Missense_Mutation_p.D722V|COBLL1_ENST00000194871.6_Missense_Mutation_p.D789V|COBLL1_ENST00000409184.3_Missense_Mutation_p.D722V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	760										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGGCAAAAGATCATCATTACC	0.393													25	153					0	0	0	0	A	165551851	T	A	165551851	3	1	510	1	0	0	0	0	1	0	0	0	3684	1435	50	5	1347	5	COBLL1	2	165551851	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	43804907	165551851	77647522	20	98331											
KLF7	8609	broad.mit.edu	37	chr2	207988567	207988567	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccggcacccgttaaactGacagcggtgaaccctcttct	8	11	8	14	3	2	2	0	2	2	0	3	2	3	2	3	2	3	2	3	2	3	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:207988567G>C	ENST00000309446.6	-	2	1040	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	KLF7_ENST00000458272.1_Intron|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.Q189E|KLF7_ENST00000412414.2_Missense_Mutation_p.Q194E	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	222					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CCGTTAAACTGACAGCGGTGA	0.557													15	128					0	0	0	0	C	207988567	G	C	207988567	3	2	510	1	0	0	0	0	1	0	0	0	8403	1299	45	2	256	2	KLF7	2	207988567	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	42436716	207988567	35210806	21	98332											
TTLL3	26140	broad.mit.edu	37	chr3	9868709	9868709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggaccacctggaggaGatgctgaagctggtgaacgg	10	7	16	8	1	0	3	0	2	0	1	0	6	0	5	2	5	4	3	2	5	2	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:9868709G>T	ENST00000383827.1	+	3	2548	c.267G>T	c.(265-267)gaG>gaT	p.E89D	TTLL3_ENST00000430793.1_Missense_Mutation_p.E89D|TTLL3_ENST00000397241.1_Missense_Mutation_p.E89D|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000547186.1_Missense_Mutation_p.E301D|TTLL3_ENST00000427853.3_Missense_Mutation_p.E89D|TTLL3_ENST00000455274.1_Missense_Mutation_p.E89D|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E362D|TTLL3_ENST00000426895.4_Missense_Mutation_p.E444D			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	301					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACCTGGAGGAGATGCTGAAGC	0.587													4	104					0.00909568	0.00917477	1	0	T	9868709	G	T	9868709	3	4	510	1	0	0	0	0	1	0	0	0	16824	933	33	2	933	2	TTLL3	3	9868709	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		9868709	188153721	22	98333											
SEMA3G	56920	broad.mit.edu	37	chr3	52469713	52469713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagccctgcccagctcttgCccctggcctgcttgccccgg	2	8	10	21	1	1	0	0	0	1	0	1	0	1	0	8	2	6	2	8	2	0	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:52469713C>T	ENST00000231721.2	-	16	2254	c.2255G>A	c.(2254-2256)gGc>gAc	p.G752D		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	752					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCAGCTCTTGCCCCTGGCCTG	0.677													4	72					0	0	0	0	T	52469713	C	T	52469713	3	4	510	1	0	0	0	0	1	0	0	0	14117	739	26	4	97	4	SEMA3G	3	52469713	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	42601004	52469713	145552717	23	98334											
KALRN	8997	broad.mit.edu	37	chr3	124053119	124053119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcctgcaggtcagccAggatggcaaagcactacttg	9	10	10	12	0	2	0	1	0	1	0	3	1	3	1	2	3	4	3	2	3	2	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:124053119A>G	ENST00000360013.3	+	9	1545	c.1418A>G	c.(1417-1419)cAg>cGg	p.Q473R	KALRN_ENST00000240874.3_Missense_Mutation_p.Q473R|KALRN_ENST00000460856.1_Missense_Mutation_p.Q473R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	473					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGGTCAGCCAGGATGGCAAA	0.562													21	150					0	0	0	0	G	124053119	A	G	124053119	3	3	510	1	0	0	0	0	1	0	0	0	8028	188	7	5	1452	5	KALRN	3	124053119	Missense_Mutation	SNP	A	TCGA-WA-A7H4-01A-21D-A34J-08	71583406	124053119	73969311	24	98335											
STAG1	10274	broad.mit.edu	37	chr3	136170943	136170943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgtttcttcccctccTctttgctaatgcttcttctg	2	18	7	14	1	4	0	0	0	4	0	6	0	6	0	3	1	2	4	3	1	1	6			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:136170943T>C	ENST00000383202.2	-	14	1616	c.1360A>G	c.(1360-1362)Agg>Ggg	p.R454G	STAG1_ENST00000536929.1_Missense_Mutation_p.R38G|STAG1_ENST00000434713.2_Missense_Mutation_p.R228G|STAG1_ENST00000236698.5_Missense_Mutation_p.R454G	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	454					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			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						CTTCCCCTCCTCTTTGCTAAT	0.373													16	115					0	0	0	0	C	136170943	T	C	136170943	3	2	510	1	0	0	0	0	1	0	0	0	15332	1550	54	5	2500	5	STAG1	3	136170943	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	12117824	136170943	61851487	25	98336											
XRN1	54464	broad.mit.edu	37	chr3	142078760	142078760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatacttcaaatagtacatcGgcttctctattagctgttac	12	15	5	9	1	2	0	1	0	1	0	4	0	2	0	0	1	4	4	0	1	8	8			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:142078760G>A	ENST00000264951.4	-	30	3525	c.3408C>T	c.(3406-3408)gcC>gcT	p.A1136A	XRN1_ENST00000392981.2_Silent_p.A1136A	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1136					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATAGTACATCGGCTTCTCTAT	0.313													5	71					0	0	0	0	A	142078760	G	A	142078760	2	1	510	1	0	0	0	0	0	0	0	1	17555	1103	39	1		1	XRN1	3	142078760	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	5907817	142078760	55943670	26	98337											
SLITRK3	22865	broad.mit.edu	37	chr3	164906812	164906812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttccagctcaatagtgcGcacatcacggtgcgtgaggt	10	9	11	11	3	2	1	2	1	0	0	3	1	3	1	1	2	4	2	1	2	3	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:164906812G>A	ENST00000475390.1	-	2	2250	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	603	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCAATAGTGCGCACATCACGG	0.552										HNSCC(40;0.11)			4	83					0	0	0	0	A	164906812	G	A	164906812	3	1	510	1	0	0	0	0	1	0	0	0	14832	1087	38	1	1130	1	SLITRK3	3	164906812	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	22828052	164906812	33115618	27	98338											
EIF4A2	1974	broad.mit.edu	37	chr3	186505353	186505353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcagggtcaagtcgtgttCtgatcactactgacttgttg	7	14	12	8	1	4	2	3	2	1	0	5	2	4	2	0	2	1	2	0	2	2	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:186505353C>G	ENST00000323963.5	+	9	1043	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V	EIF4A2_ENST00000356531.5_Missense_Mutation_p.L232V|EIF4A2_ENST00000440191.2_Missense_Mutation_p.L328V			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	327	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAGTCGTGTTCTGATCACTAC	0.393			T	BCL6	NHL								24	212					0	0	0	0	G	186505353	C	G	186505353	3	3	510	1	0	0	0	0	1	0	0	0	5063	912	32	2	1013	2	EIF4A2	3	186505353	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	21598541	186505353	11517077	28	98339											
TACC3	10460	broad.mit.edu	37	chr4	1733024	1733024	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcttcagagaccccgcTgagggtacgttgcctggcac	8	7	14	12	2	1	3	1	1	0	2	1	5	1	3	3	2	3	5	3	2	1	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:1733024T>A	ENST00000313288.4	+	6	1693	c.1587T>A	c.(1585-1587)gcT>gcA	p.A529A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	529						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAGACCCCGCTGAGGGTACGT	0.632													7	90					0	0	0	0	A	1733024	T	A	1733024	2	1	510	1	0	0	0	0	0	0	0	1	15594	1567	55	5		5	TACC3	4	1733024	Silent	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08		1733024	189421252	29	98340											
WFS1	7466	broad.mit.edu	37	chr4	6296871	6296871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacgacgaagatgatgaCgagctggcggggaagagccc	12	3	17	9	4	0	4	0	2	0	2	0	9	0	6	1	4	2	1	1	4	2	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:6296871C>T	ENST00000226760.1	+	7	986	c.816C>T	c.(814-816)gaC>gaT	p.D272D	WFS1_ENST00000503569.1_Silent_p.D272D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	272					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AAGATGATGACGAGCTGGCGG	0.607													7	109					0	0	0	0	T	6296871	C	T	6296871	2	4	510	1	0	0	0	0	0	0	0	1	17456	535	19	1		1	WFS1	4	6296871	Silent	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	4563847	6296871	184857405	30	98341											
FBXL5	26234	broad.mit.edu	37	chr4	15627482	15627482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttttcaaaaagccactttGatgagatgtcagaattccaa	14	13	7	7	0	2	3	2	2	0	2	3	4	3	3	2	0	1	1	2	0	4	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:15627482G>C	ENST00000341285.3	-	9	1367	c.1243C>G	c.(1243-1245)Caa>Gaa	p.Q415E	FBXL5_ENST00000382358.4_Missense_Mutation_p.Q289E|FBXL5_ENST00000412094.2_Missense_Mutation_p.Q398E	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	415					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAGCCACTTTGATGAGATGTC	0.423													12	136					0	0	0	0	C	15627482	G	C	15627482	3	2	510	1	0	0	0	0	1	0	0	0	5767	1299	45	2	844	2	FBXL5	4	15627482	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	9330611	15627482	175526794	31	98342											
QDPR	5860	broad.mit.edu	37	chr4	17513673	17513673	+	Missense_Mutation	SNP	G	G	A																															cgcctgcagccgccgccgccGccatcctgctcctgccagcc																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:17513673G>A	ENST00000281243.5	-	1	184	c.5C>T	c.(4-6)gCg>gTg	p.A2V	QDPR_ENST00000428702.2_Missense_Mutation_p.A2V|QDPR_ENST00000508623.1_Missense_Mutation_p.A2V|QDPR_ENST00000513615.1_Missense_Mutation_p.A2V	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	2					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	CGCCGCCGCCGCCATCCTGCT	0.766													5	27					0	0	0	0	A	17513673	G	A	17513673	3	1	510	1	0	0	0	0	1	0	0	0	12954	1087	38	1	757	1	QDPR	4	17513673	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	1886191	17513673	173640603	32	98343	1171	2									
QDPR	5860	broad.mit.edu	37	chr4	17513674	17513674	+	Missense_Mutation	SNP	C	C	A																															gcctgcagccgccgccgccgCcatcctgctcctgccagccc																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:17513674C>A	ENST00000281243.5	-	1	183	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	QDPR_ENST00000428702.2_Missense_Mutation_p.A2S|QDPR_ENST00000508623.1_Missense_Mutation_p.A2S|QDPR_ENST00000513615.1_Missense_Mutation_p.A2S	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	2					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GCCGCCGCCGCCATCCTGCTC	0.766													5	26					1.23904e-05	1.31861e-05	1	0	A	17513674	C	A	17513674	3	1	510	1	0	0	0	0	1	0	0	0	12954	739	26	4	758	4	QDPR	4	17513674	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	1	17513674	173640602	33	98344	1171	2									
ARAP2	116984	broad.mit.edu	37	chr4	36179604	36179604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtgcatttaatagtaTgctgatccagtcatttctct	9	18	6	8	0	3	1	2	1	1	0	5	1	4	1	1	0	2	3	1	0	3	6			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:36179604T>C	ENST00000303965.4	-	9	2191	c.1702A>G	c.(1702-1704)Ata>Gta	p.I568V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	568	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTAATAGTATGCTGATCCAG	0.378													11	96					0	0	0	0	C	36179604	T	C	36179604	3	2	510	1	0	0	0	0	1	0	0	0	841	1464	51	5	3512	5	ARAP2	4	36179604	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	18665930	36179604	154974672	34	98345											
LPHN3	23284	broad.mit.edu	37	chr4	62758432	62758432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accaccagtaccacccttcgGaccacaactttgagcccagg	11	6	7	17	1	0	1	0	1	0	0	1	2	0	2	6	2	3	1	6	2	2	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:62758432G>A	ENST00000512091.1	+	9	2082	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R	LPHN3_ENST00000506746.1_Silent_p.R513R|LPHN3_ENST00000506720.1_Silent_p.R513R|LPHN3_ENST00000514996.1_Silent_p.R445R|LPHN3_ENST00000514591.1_Silent_p.R445R|LPHN3_ENST00000507164.1_Silent_p.R513R|LPHN3_ENST00000545650.1_Silent_p.R445R|LPHN3_ENST00000507625.1_Silent_p.R513R|LPHN3_ENST00000508693.1_Silent_p.R513R|LPHN3_ENST00000511324.1_Silent_p.R513R|LPHN3_ENST00000504896.1_Silent_p.R445R|LPHN3_ENST00000508946.1_Silent_p.R445R|LPHN3_ENST00000514157.1_Silent_p.R445R|LPHN3_ENST00000509896.1_Silent_p.R513R|LPHN3_ENST00000506700.1_Silent_p.R445R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	445					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						CCACCCTTCGGACCACAACTT	0.483													5	103					0	0	0	0	A	62758432	G	A	62758432	2	1	510	1	0	0	0	0	0	0	0	1	8981	1161	41	2		2	LPHN3	4	62758432	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	26578828	62758432	128395844	35	98346											
EPHA5	2044	broad.mit.edu	37	chr4	66467860	66467860	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaggaaggctgttgcAgtcccgcagggtaaatttga	9	10	12	10	1	0	1	0	1	0	0	3	2	3	2	3	3	1	5	3	3	3	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:66467860A>C	ENST00000273854.3	-	3	1009	c.409T>G	c.(409-411)Tgc>Ggc	p.C137G	EPHA5_ENST00000511294.1_Missense_Mutation_p.C137G|EPHA5_ENST00000354839.4_Missense_Mutation_p.C137G|EPHA5_ENST00000432638.2_Missense_Mutation_p.C137G	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	137					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGGCTGTTGCAGTCCCGCAGG	0.428										TSP Lung(17;0.13)			12	132					0	0	0	0	C	66467860	A	C	66467860	3	2	510	1	0	0	0	0	1	0	0	0	5208	188	7	5	2768	5	EPHA5	4	66467860	Missense_Mutation	SNP	A	TCGA-WA-A7H4-01A-21D-A34J-08	3709428	66467860	124686416	36	98347											
UGT2A1	10941	broad.mit.edu	37	chr4	70455336	70455336	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaggttgatcatggtgAattcttgataacctcatagc	11	15	8	7	0	3	3	2	3	1	0	3	3	3	3	1	2	3	1	1	2	4	7			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:70455336A>T	ENST00000503640.1	-	6	1393	c.1338T>A	c.(1336-1338)atT>atA	p.I446I	UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Silent_p.I402I|UGT2A1_ENST00000286604.4_Silent_p.I446I|UGT2A2_ENST00000457664.2_Silent_p.I455I|UGT2A1_ENST00000514019.1_Silent_p.I612I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	446					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GATCATGGTGAATTCTTGATA	0.393													32	244					0	0	0	0	T	70455336	A	T	70455336	2	4	510	1	0	0	0	0	0	0	0	1	17049	242	9	5		5	UGT2A1	4	70455336	Silent	SNP	A	TCGA-WA-A7H4-01A-21D-A34J-08	3987476	70455336	120698940	37	98348											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-																															aggtttaaatccattcacatCagcagcagcagcagcagtct																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34													7	104	---	---	---	---					-	146077125	CAG	-	146077123	7	5	510	1	0	1	0	1	0	0	0	0	11385	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-WA-A7H4-01A-21D-A34J-08	75621787	146077123	45077153	38	98349											
DCLK2	166614	broad.mit.edu	37	chr4	151124979	151124979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagcagccaactttctactCctaaatctacgaaatcctcc	12	10	3	16	1	2	0	0	0	2	0	5	1	5	0	5	0	5	1	5	0	6	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:151124979C>T	ENST00000296550.7	+	5	1748	c.994C>T	c.(994-996)Cct>Tct	p.P332S	DCLK2_ENST00000506325.1_Missense_Mutation_p.P332S|DCLK2_ENST00000302176.8_Missense_Mutation_p.P349S	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	332	Ser-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTTTCTACTCCTAAATCTAC	0.403													15	135					0	0	0	0	T	151124979	C	T	151124979	3	4	510	1	0	0	0	0	1	0	0	0	4324	855	30	2	1012	2	DCLK2	4	151124979	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	5047856	151124979	40029297	39	98350											
ADAM29	11086	broad.mit.edu	37	chr4	175899049	175899049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcatcctcagttgacGccttcccagagtcaacctcc	9	9	7	16	1	3	3	3	1	0	2	6	3	6	3	5	0	1	1	5	0	1	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:175899049G>A	ENST00000359240.3	+	5	3043	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	ADAM29_ENST00000514159.1_Silent_p.T791T|ADAM29_ENST00000404450.4_Silent_p.T791T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.T791T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	791	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.T791T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCAGTTGACGCCTTCCCAGA	0.572													17	160					0	0	0	0	A	175899049	G	A	175899049	2	1	510	1	0	0	0	0	0	0	0	1	247	1074	38	1		1	ADAM29	4	175899049	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	24774070	175899049	15255227	40	98351											
ANKRD32	84250	broad.mit.edu	37	chr5	94014601	94014601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttggtcttaagatgggtaGaaatgtgatgcgacacatgt	11	12	12	6	1	1	3	0	1	1	2	1	4	1	3	1	2	1	1	1	2	3	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:94014601G>C	ENST00000265140.5	+	15	2335	c.1916G>C	c.(1915-1917)aGa>aCa	p.R639T		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	639										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAGATGGGTAGAAATGTGATG	0.373													6	109					0	0	0	0	C	94014601	G	C	94014601	3	2	510	1	0	0	0	0	1	0	0	0	659	942	33	2	1970	2	ANKRD32	5	94014601	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		94014601	86900659	41	98352											
TTC37	9652	broad.mit.edu	37	chr5	94839625	94839625	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagcctggatagctttaTcatattcaccagtggaacta	14	12	7	8	0	2	0	2	0	0	0	2	2	2	2	2	2	3	1	2	2	7	7			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:94839625T>A	ENST00000358746.2	-	31	3408	c.3110A>T	c.(3109-3111)gAt>gTt	p.D1037V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1037							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GATAGCTTTATCATATTCACC	0.338													10	132					0	0	0	0	A	94839625	T	A	94839625	3	1	510	1	0	0	0	0	1	0	0	0	16801	1435	50	5	1636	5	TTC37	5	94839625	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	825024	94839625	86075635	42	98353											
PHAX	51808	broad.mit.edu	37	chr5	125939781	125939781	+	Frame_Shift_Del	DEL	A	A	-																															ggaaacgacctgtcaaagacAggctagggaacagaccagaa																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:125939781delA	ENST00000297540.4	+	2	1311	c.616delA	c.(616-618)ggfs	p.R206fs		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	206	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TGTCAAAGACAGGCTAGGGAA	0.423													18	79	---	---	---	---					-	125939781	A	-	125939781	7	5	510	1	0	1	0	1	0	0	0	0	11885	179	7	0	622	0	PHAX	5	125939781	Frame_Shift_Del	DEL	A	TCGA-WA-A7H4-01A-21D-A34J-08	31100156	125939781	54975479	43	98354											
KLHL3	26249	broad.mit.edu	37	chr5	137056200	137056200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctttccccatgtgggcagGgttgacagtgatcgtcctct	5	13	12	11	1	1	2	0	2	1	0	4	2	3	2	3	2	1	3	3	2	0	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:137056200G>A	ENST00000309755.4	-	2	531	c.88C>T	c.(88-90)Cct>Tct	p.P30S	KLHL3_ENST00000508657.1_5'UTR|KLHL3_ENST00000394937.3_Missense_Mutation_p.P30S	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	30						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ATGTGGGCAGGGTTGACAGTG	0.507													7	89					0	0	0	0	A	137056200	G	A	137056200	3	1	510	1	0	0	0	0	1	0	0	0	8435	1232	43	4	1731	4	KLHL3	5	137056200	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	11116419	137056200	43859060	44	98355											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308207	140308207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccgctctgccaggactgGacacttggtcacaaaagtgg	9	7	12	13	1	2	0	1	0	1	0	2	2	2	2	3	4	1	1	3	4	2	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:140308207G>T	ENST00000253807.2	+	1	1730	c.1730G>T	c.(1729-1731)gGa>gTa	p.G577V	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G577V|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGACTGGACACTTGGTC	0.493													20	158					4.35082e-09	4.6731e-09	1	0	T	140308207	G	T	140308207	3	4	510	1	0	0	0	0	1	0	0	0	11603	1174	41	2	1732	2	PCDHAC1	5	140308207	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	3252007	140308207	40607053	45	98356											
DIAPH1	1729	broad.mit.edu	37	chr5	140953368	140953368	+	Frame_Shift_Del	DEL	C	C	-																															ggtggggggattctagcactCccaggcaaaggaggaggtgg																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:140953368delC	ENST00000253811.6	-	16	2189	c.2049delG	c.(2047-2049)ggfs	p.G683fs	DIAPH1_ENST00000398557.4_Frame_Shift_Del_p.G683fs|DIAPH1_ENST00000518047.1_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000398562.2_Frame_Shift_Del_p.G662fs|DIAPH1_ENST00000398566.3_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000389054.3_Frame_Shift_Del_p.G683fs|DIAPH1_ENST00000389057.5_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000520569.1_Frame_Shift_Del_p.G629fs			O60610	DIAP1_HUMAN	diaphanous-related formin 1	683	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAGCACTCCCAGGCAAAG	0.622													2	4	---	---	---	---					-	140953368	C	-	140953368	7	5	510	1	0	1	0	1	0	0	0	0	4555	842	30	0	1821	0	DIAPH1	5	140953368	Frame_Shift_Del	DEL	C	TCGA-WA-A7H4-01A-21D-A34J-08	645161	140953368	39961892	46	98357											
LARP1	23367	broad.mit.edu	37	chr5	154173460	154173460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgaccaggatgagacatcGagtgtgaagagtgatggggc	12	6	16	7	2	0	4	0	3	0	2	1	8	0	5	1	3	0	0	1	3	1	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:154173460G>A	ENST00000336314.4	+	6	762	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	323							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGAGACATCGAGTGTGAAGA	0.701													19	124					0	0	0	0	A	154173460	G	A	154173460	2	1	510	1	0	0	0	0	0	0	0	1	8681	1045	37	1		1	LARP1	5	154173460	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	13220092	154173460	26741800	47	98358											
CLPS	1208	broad.mit.edu	37	chr6	35765036	35765036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcataggccacagagagggcGacaagcaggaggatcaggat	14	3	16	8	1	1	1	1	0	0	1	1	6	1	4	1	5	1	2	1	5	2	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr6:35765036G>A	ENST00000259938.2	-	1	52	c.30C>T	c.(28-30)gtC>gtT	p.V10V		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	10					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						CAGAGAGGGCGACAAGCAGGA	0.607													15	153					0	0	0	0	A	35765036	G	A	35765036	2	1	510	1	0	0	0	0	0	0	0	1	3583	1045	37	1		1	CLPS	6	35765036	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		35765036	135350031	48	98359											
KCTD20	222658	broad.mit.edu	37	chr6	36447401	36447401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggtatcatcaattgtcctGatggcatctctatcccagat	9	13	7	12	1	3	2	2	1	1	1	6	2	5	2	3	2	0	2	3	2	3	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr6:36447401G>C	ENST00000373731.2	+	5	962	c.571G>C	c.(571-573)Gat>Cat	p.D191H	KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.D46H|KCTD20_ENST00000474988.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	191	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D191H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CAATTGTCCTGATGGCATCTC	0.358													10	133					0	0	0	0	C	36447401	G	C	36447401	3	2	510	1	0	0	0	0	1	0	0	0	8161	1290	45	2	585	2	KCTD20	6	36447401	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	682365	36447401	134667666	49	98360											
CENPQ	55166	broad.mit.edu	37	chr6	49448713	49448713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctcccaaaaagatggaaGatttaactaatgtatcaagt	16	11	6	8	0	1	2	1	0	0	2	3	3	3	3	2	1	1	1	2	1	7	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr6:49448713G>A	ENST00000335783.3	+	6	491	c.397G>A	c.(397-399)Gat>Aat	p.D133N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	133					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAAGATGGAAGATTTAACTAA	0.323													13	105					0	0	0	0	A	49448713	G	A	49448713	3	1	510	1	0	0	0	0	1	0	0	0	3270	942	33	2	415	2	CENPQ	6	49448713	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	13001312	49448713	121666354	50	98361											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99627983	99627983	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcaggagaattatgggAgcgcatttccccagggtaag	12	7	14	8	1	0	1	0	0	0	1	1	3	1	2	2	4	1	3	2	4	3	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr7:99627983A>T	ENST00000324306.6	+	5	1018	c.784A>T	c.(784-786)Agc>Tgc	p.S262C	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.S49C|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S226C	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	262	KRAB.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAATTATGGGAGCGCATTTCC	0.498													5	41					0	0	0	0	T	99627983	A	T	99627983	3	4	510	1	0	0	0	0	1	0	0	0	17781	304	11	5	798	5	ZKSCAN1	7	99627983	Missense_Mutation	SNP	A	TCGA-WA-A7H4-01A-21D-A34J-08		99627983	59510680	51	98362											
GPR22	2845	broad.mit.edu	37	chr7	107114812	107114812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctaactatagttatcCttctgctttcactggagagt	8	17	6	10	0	3	1	1	0	2	1	5	2	5	1	2	1	2	2	2	1	4	7			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr7:107114812C>T	ENST00000304402.4	+	3	1650	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	103						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TATAGTTATCCTTCTGCTTTC	0.358													6	158					0	0	0	0	T	107114812	C	T	107114812	3	4	510	1	0	0	0	0	1	0	0	0	6731	681	24	4	309	4	GPR22	7	107114812	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	7486829	107114812	52023851	52	98363											
NOM1	64434	broad.mit.edu	37	chr7	156743149	156743149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagcagtggtgaggaggagGaagatgccggacagacactc	13	4	16	8	1	0	3	0	1	0	2	1	7	0	7	1	5	2	1	1	5	1	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr7:156743149G>A	ENST00000275820.3	+	1	733	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	240	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding	p.E240*(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAGGAGGAGGAAGATGCCGG	0.552													6	122					0	0	0	0	A	156743149	G	A	156743149	3	1	510	1	0	0	0	0	1	0	0	0	10600	1175	41	2	720	2	NOM1	7	156743149	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	49628337	156743149	2395514	53	98364											
TOX	9760	broad.mit.edu	37	chr8	59728263	59728263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgagatgtcttcacGtcaacaggttcactgtagct	9	12	12	8	1	4	1	3	1	1	1	4	3	4	2	0	3	2	4	0	3	2	4	rs111551773		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:59728263G>A	ENST00000361421.1	-	7	1246	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	342						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				ATGTCTTCACGTCAACAGGTT	0.493													10	62					0	0	0	0	A	59728263	G	A	59728263	2	1	510	1	0	0	0	0	0	0	0	1	16472	1136	40	1		1	TOX	8	59728263	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		59728263	86635759	54	98365											
RDH10	157506	broad.mit.edu	37	chr8	74235183	74235183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagttgtgtgcatgtatcGgttcctaggagcggacaagt	9	11	14	7	2	0	0	0	0	0	0	2	2	1	2	1	3	3	5	1	3	3	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:74235183G>A	ENST00000240285.5	+	6	1616	c.938G>A	c.(937-939)cGg>cAg	p.R313Q	RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.R148Q	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	313					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGCATGTATCGGTTCCTAGGA	0.403													8	106					0	0	0	0	A	74235183	G	A	74235183	3	1	510	1	0	0	0	0	1	0	0	0	13271	1116	39	1	960	1	RDH10	8	74235183	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	14506920	74235183	72128839	55	98366											
ZFPM2	23414	broad.mit.edu	37	chr8	106431395	106431395	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcttgaagatgccattgaaGatgaggaagaagaatgtcca	15	8	12	6	1	0	7	0	3	0	4	1	8	1	8	2	1	1	1	2	1	5	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:106431395G>C	ENST00000407775.2	+	2	314	c.64G>C	c.(64-66)Gat>Cat	p.D22H	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	22					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCCATTGAAGATGAGGAAGA	0.398													4	83					0	0	0	0	C	106431395	G	C	106431395	3	2	510	1	0	0	0	0	1	0	0	0	17753	942	33	2	70	2	ZFPM2	8	106431395	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	32196212	106431395	39932627	56	98367											
ADCY8	114	broad.mit.edu	37	chr8	131826374	131826374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctgggtaagatattccGgagcatgttctcattgtgtt	8	15	12	6	1	1	1	1	0	1	1	3	2	2	2	1	3	1	5	1	3	2	6	rs150152490		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:131826374G>A	ENST00000286355.5	-	14	4946	c.2854C>T	c.(2854-2856)Cgg>Tgg	p.R952W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R821W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	952					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGATATTCCGGAGCATGTTC	0.552										HNSCC(32;0.087)			8	117					0	0	0	0	A	131826374	G	A	131826374	3	1	510	1	0	0	0	0	1	0	0	0	300	1115	39	1	921	1	ADCY8	8	131826374	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	25394979	131826374	14537648	57	98368											
TSNARE1	203062	broad.mit.edu	37	chr8	143381872	143381872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggatggcctcctccCgcagccggatggcctccagg	5	7	13	16	2	1	0	0	0	1	0	4	2	4	2	6	5	2	2	6	5	0	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:143381872C>T	ENST00000519651.1	-	8	711	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R422Q|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R421Q|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R422Q			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	422					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCTCCTCCCGCAGCCGGAT	0.632													6	60					0	0	0	0	T	143381872	C	T	143381872	3	4	510	1	0	0	0	0	1	0	0	0	16725	652	23	1	292	1	TSNARE1	8	143381872	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	11555498	143381872	2982150	58	98369											
VPS13A	23230	broad.mit.edu	37	chr9	79917892	79917892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactcctgccattaaatcttGaggttgtggttgaacgaaat	11	14	9	7	1	1	2	0	2	1	0	2	3	2	2	2	2	3	2	2	2	5	5			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr9:79917892G>C	ENST00000360280.3	+	34	4134	c.3874G>C	c.(3874-3876)Gag>Cag	p.E1292Q	VPS13A_ENST00000357409.5_Missense_Mutation_p.E1292Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.E1292Q|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.E1253Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1292					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTAAATCTTGAGGTTGTGGT	0.353													5	138					0	0	0	0	C	79917892	G	C	79917892	3	2	510	1	0	0	0	0	1	0	0	0	17285	1291	45	2	4008	2	VPS13A	9	79917892	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		79917892	61295539	59	98370											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-																															tccattacatcacagtggggCtcctcctcctcctccttccc																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													7	190	---	---	---	---					-	81070789	CTC	-	81070787	7	5	510	1	0	1	0	1	0	0	0	0	17791	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-WA-A7H4-01A-21D-A34J-08		81070787	54463960	60	98371											
LCOR	84458	broad.mit.edu	37	chr10	98711951	98711951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctccagtactcaagggaaCgggtaagggagaatatttgt	12	10	13	6	1	1	1	1	0	0	1	2	3	2	2	1	3	3	3	1	3	6	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr10:98711951C>T	ENST00000540664.1	+	7	873	c.330C>T	c.(328-330)aaC>aaT	p.N110N	LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371103.3_Silent_p.N110N|LCOR_ENST00000356016.3_Silent_p.N110N|LCOR_ENST00000371097.4_Silent_p.N110N	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTCAAGGGAACGGGTAAGGGA	0.438													5	76					0	0	0	0	T	98711951	C	T	98711951	2	4	510	1	0	0	0	0	0	0	0	1	8742	535	19	1		1	LCOR	10	98711951	Silent	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	17641164	98711951	36822796	61	98372											
TBCEL	219899	broad.mit.edu	37	chr11	120918326	120918327	+	Frame_Shift_Ins	INS	-	-	A																															aattgctgctttctgcgctcINSatgtgtcggaactagatctt																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr11:120918326_120918327insA	ENST00000422003.2	+	3	411_412	c.223_224insA	c.(223-225)tgtfs	p.C75fs	TBCEL_ENST00000529397.1_Frame_Shift_Ins_p.C75fs	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	75						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTTCTGCGCTCATGTGTCGGAA	0.411													12	175	---	---	---	---					A	120918327	-	A	120918326	7	5	510	1	0	1	1	0	0	0	0	0	15729	826	29	0	229	0	TBCEL	11	120918326	Frame_Shift_Ins	INS	-	TCGA-WA-A7H4-01A-21D-A34J-08		120918326	14088190	62	98373											
SCN3B	55800	broad.mit.edu	37	chr11	123516408	123516408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggggttgccctgcaCggcctccgtctccgagggca	4	9	13	15	3	2	0	1	0	1	0	4	1	3	0	4	4	2	3	4	4	0	2	rs147803210		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr11:123516408C>T	ENST00000392770.2	-	2	908	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	SCN3B_ENST00000299333.3_Missense_Mutation_p.V36M|SCN3B_ENST00000530277.1_Missense_Mutation_p.V36M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	36	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TTGCCCTGCACGGCCTCCGTC	0.627													17	126					0	0	0	0	T	123516408	C	T	123516408	3	4	510	1	0	0	0	0	1	0	0	0	14006	536	19	1	557	1	SCN3B	11	123516408	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	2598082	123516408	11490108	63	98374											
CLEC4E	26253	broad.mit.edu	37	chr12	8693383	8693383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtgtttcagatgatttaGatgaattcattttttctctc	9	21	6	5	0	3	4	2	2	1	2	5	4	3	4	0	0	0	1	0	0	2	8	rs144112080	byFrequency	TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr12:8693383G>C	ENST00000299663.3	-	1	176	c.11C>G	c.(10-12)tCt>tGt	p.S4C	CLEC4E_ENST00000446457.2_Missense_Mutation_p.S4C|CLEC4E_ENST00000545274.1_Missense_Mutation_p.S4C	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	4						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AGATGATTTAGATGAATTCAT	0.368													13	151					0	0	0	0	C	8693383	G	C	8693383	3	2	510	1	0	0	0	0	1	0	0	0	3545	942	33	2	672	2	CLEC4E	12	8693383	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		8693383	125158512	64	98375											
ZC3H10	84872	broad.mit.edu	37	chr12	56514873	56514873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaggaggcactggtggggGctcaacaggctcagtcctcc	7	7	16	11	0	2	0	2	0	0	0	4	2	4	2	2	7	1	3	2	7	1	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr12:56514873G>A	ENST00000257940.2	+	3	803	c.527G>A	c.(526-528)gGc>gAc	p.G176D	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	176	Poly-Gly.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			ACTGGTGGGGGCTCAACAGGC	0.552													4	101					0	0	0	0	A	56514873	G	A	56514873	3	1	510	1	0	0	0	0	1	0	0	0	17654	1203	42	4	529	4	ZC3H10	12	56514873	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	47821490	56514873	77337022	65	98376											
TIMELESS	8914	broad.mit.edu	37	chr12	56814876	56814876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggttttcctcttcttccaGatcttcctggcaaaaatctt	8	16	5	12	0	4	1	0	0	4	1	7	1	7	1	3	2	0	2	3	2	2	6			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr12:56814876G>C	ENST00000229201.4	-	24	3062	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V	TIMELESS_ENST00000554616.1_Missense_Mutation_p.L468V|TIMELESS_ENST00000553532.1_Missense_Mutation_p.L971V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	971					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTTCTTCCAGATCTTCCTGG	0.473													11	108					0	0	0	0	C	56814876	G	C	56814876	3	2	510	1	0	0	0	0	1	0	0	0	15998	933	33	2	739	2	TIMELESS	12	56814876	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	300003	56814876	77037019	66	98377											
OR6S1	341799	broad.mit.edu	37	chr14	21109809	21109809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgggagccctgccaggacGaactctgttggatcactact	8	11	11	11	1	2	0	1	0	1	0	2	4	2	3	2	3	4	1	2	3	2	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:21109809G>A	ENST00000320704.3	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453													13	199					0	0	0	0	A	21109809	G	A	21109809	2	1	510	1	0	0	0	0	0	0	0	1	11280	1049	37	1		1	OR6S1	14	21109809	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		21109809	86239731	67	98378											
RNASE2	6036	broad.mit.edu	37	chr14	21424254	21424254	+	Missense_Mutation	SNP	C	C	G																															ggaagccaggtgcctttaatCcactgtaacctcacaactcc																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:21424254C>G	ENST00000304625.2	+	2	414	c.324C>G	c.(322-324)atC>atG	p.I108M		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418													24	102					0	0	0	0	G	21424254	C	G	21424254	3	3	510	1	0	0	0	0	1	0	0	0	13489	845	30	2	326	2	RNASE2	14	21424254	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	314445	21424254	85925286	68	98379	1172	2									
RNASE2	6036	broad.mit.edu	37	chr14	21424255	21424255	+	Missense_Mutation	SNP	C	C	T																															gaagccaggtgcctttaatcCactgtaacctcacaactcca																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:21424255C>T	ENST00000304625.2	+	2	415	c.325C>T	c.(325-327)Cac>Tac	p.H109Y		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	109					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GCCTTTAATCCACTGTAACCT	0.418													25	101					0	0	0	0	T	21424255	C	T	21424255	3	4	510	1	0	0	0	0	1	0	0	0	13489	594	21	4	327	4	RNASE2	14	21424255	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	1	21424255	85925285	69	98380	1172	2									
ARHGAP5	394	broad.mit.edu	37	chr14	32561642	32561642	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcttaagattatatcacgaTagtaccaatatagataaagt	17	12	6	6	2	1	2	1	0	0	2	1	3	1	2	1	0	1	2	1	0	10	8			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:32561642T>C	ENST00000345122.3	+	2	2082	c.1767T>C	c.(1765-1767)gaT>gaC	p.D589D	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.D589D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.D589D|ARHGAP5_ENST00000539826.2_Silent_p.D589D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	589					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			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)		TATATCACGATAGTACCAATA	0.378													11	94					0	0	0	0	C	32561642	T	C	32561642	2	2	510	1	0	0	0	0	0	0	0	1	888	1403	49	5		5	ARHGAP5	14	32561642	Silent	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	11137387	32561642	74787898	70	98381											
PRKCH	5583	broad.mit.edu	37	chr14	61915942	61915942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttacagcctgtacttgccAaaacaatattaacaaagtgg	15	11	7	8	0	0	0	0	0	0	0	0	0	0	0	2	1	6	2	2	1	8	5			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:61915942A>G	ENST00000332981.5	+	5	1059	c.674A>G	c.(673-675)cAa>cGa	p.Q225R	PRKCH_ENST00000555082.1_Missense_Mutation_p.Q64R	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	225					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGTACTTGCCAAAACAATATT	0.408													9	91					0	0	0	0	G	61915942	A	G	61915942	3	3	510	1	0	0	0	0	1	0	0	0	12593	130	5	5	692	5	PRKCH	14	61915942	Missense_Mutation	SNP	A	TCGA-WA-A7H4-01A-21D-A34J-08	29354300	61915942	45433598	71	98382											
PLA2G4F	255189	broad.mit.edu	37	chr15	42437787	42437787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgtgatattcacaCtgcctctgtaccactccagg	8	11	6	16	0	3	1	2	1	1	0	4	1	4	1	5	1	2	1	5	1	2	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr15:42437787C>T	ENST00000397272.3	-	16	1863	c.1772G>A	c.(1771-1773)aGt>aAt	p.S591N	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.S589N	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	589	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GATATTCACACTGCCTCTGTA	0.597													15	200					0	0	0	0	T	42437787	C	T	42437787	3	4	510	1	0	0	0	0	1	0	0	0	12078	565	20	4	803	4	PLA2G4F	15	42437787	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08		42437787	60093605	72	98383											
PDPK1	5170	broad.mit.edu	37	chr16	2611896	2611899	+	Frame_Shift_Del	DEL	CGAC	CGAC	-																															ctttacttcacatttcaggaCgacgagaagctgtgtatcct																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:2611896_2611899delCGAC	ENST00000342085.4	+	4	602_605	c.453_456delCGAC	c.(451-456)gafs	p.DD151fs	RP11-20I23.8_ENST00000569852.1_RNA|PDPK1_ENST00000354836.5_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000441549.3_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000268673.7_Intron|PDPK1_ENST00000389224.3_Frame_Shift_Del_p.DD124fs	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	151	Protein kinase.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CATTTCAGGACGACGAGAAGCTGT	0.52													3	3	---	---	---	---					-	2611899	CGAC	-	2611896	7	5	510	1	0	1	0	1	0	0	0	0	11758	535	19	0	467	0	PDPK1	16	2611896	Frame_Shift_Del	DEL	CGAC	TCGA-WA-A7H4-01A-21D-A34J-08		2611896	87742857	73	98384											
ADCY9	115	broad.mit.edu	37	chr16	4163838	4163838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggtcatctaagtattttgCggtggcctcagaaatgtgaa	10	12	11	8	2	3	2	2	1	1	1	3	2	3	2	2	3	1	1	2	3	4	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:4163838C>T	ENST00000294016.3	-	2	2144	c.1606G>A	c.(1606-1608)Gca>Aca	p.A536T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	536					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AAGTATTTTGCGGTGGCCTCA	0.507													5	189					0	0	0	0	T	4163838	C	T	4163838	3	4	510	1	0	0	0	0	1	0	0	0	301	768	27	1	2495	1	ADCY9	16	4163838	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	1551942	4163838	86190915	74	98385											
SMG1	23049	broad.mit.edu	37	chr16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccgccgccgccgccgcCgctgctcagccgagaccccg	3	3	14	21	8	1	1	1	0	0	1	1	2	1	1	9	1	3	2	9	1	0	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	SMG1_ENST00000389467.3_Missense_Mutation_p.G13S|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgccgctgcTCAGC	0.736													4	22					0	0	0	0	T	18937327	C	T	18937327	3	4	510	1	0	0	0	0	1	0	0	0	14883	652	23	1	11200	1	SMG1	16	18937327	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	14773489	18937327	71417426	75	98386											
ALDOA	226	broad.mit.edu	37	chr16	30080251	30080251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccctcagccctcgccatCatggaaaatgccaatgttct	10	9	6	16	1	3	0	2	0	1	0	4	1	3	1	5	1	2	1	5	1	3	1	rs11553120		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:30080251C>T	ENST00000566897.1	+	8	1644	c.492C>T	c.(490-492)atC>atT	p.I164I	ALDOA_ENST00000412304.2_Silent_p.I164I|ALDOA_ENST00000564546.1_Silent_p.I164I|ALDOA_ENST00000395248.1_Silent_p.I218I|ALDOA_ENST00000338110.5_Silent_p.I164I|ALDOA_ENST00000564595.2_Silent_p.I218I|ALDOA_ENST00000395240.3_Silent_p.I164I|ALDOA_ENST00000569798.1_Silent_p.I164I|ALDOA_ENST00000563060.2_Silent_p.I164I|ALDOA_ENST00000569545.1_Silent_p.I164I			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	164					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTCGCCATCATGGAAAATG	0.562											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	102					0	0	0	0	T	30080251	C	T	30080251	2	4	510	1	0	0	0	0	0	0	0	1	507	816	29	2		2	ALDOA	16	30080251	Silent	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	11142924	30080251	60274502	76	98387											
N4BP1	9683	broad.mit.edu	37	chr16	48595377	48595377	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgaaaattctctgtcttCttggaatcttttattttctt	8	21	5	7	0	5	1	0	1	5	0	6	2	5	2	0	1	1	1	0	1	4	8			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:48595377C>G	ENST00000262384.3	-	2	1413	c.1177G>C	c.(1177-1179)Gaa>Caa	p.E393Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	393					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TCTCTGTCTTCTTGGAATCTT	0.358													12	101					0	0	0	0	G	48595377	C	G	48595377	3	3	510	1	0	0	0	0	1	0	0	0	10179	922	32	2	1537	2	N4BP1	16	48595377	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	18515126	48595377	41759376	77	98388											
SLC12A4	6560	broad.mit.edu	37	chr16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccacggagttatgccGcatgcctcccaggccacagg	9	5	11	16	2	0	0	0	0	0	0	1	1	1	1	5	3	3	3	5	3	1	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:67980419G>A	ENST00000422611.2	-	17	2404	c.2365C>T	c.(2365-2367)Cgg>Tgg	p.R789W	SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R787W|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652													4	103					0	0	0	0	A	67980419	G	A	67980419	3	1	510	1	0	0	0	0	1	0	0	0	14473	1086	38	1	926	1	SLC12A4	16	67980419	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	19385042	67980419	22374334	78	98389											
ZFHX3	463	broad.mit.edu	37	chr16	72822728	72822728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcagacccatcaagttCggcttaggagacgttaaagc	11	8	12	10	2	1	2	1	0	0	2	2	3	1	2	1	3	1	4	1	3	4	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:72822728C>T	ENST00000268489.5	-	10	10119	c.9447G>A	c.(9445-9447)ccG>ccA	p.P3149P	ZFHX3_ENST00000397992.5_Silent_p.P2235P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3149					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P3149P(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCATCAAGTTCGGCTTAGGAG	0.547													10	173					0	0	0	0	T	72822728	C	T	72822728	2	4	510	1	0	0	0	0	0	0	0	1	17729	871	31	1		1	ZFHX3	16	72822728	Silent	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	4842309	72822728	17532025	79	98390											
GAN	8139	broad.mit.edu	37	chr16	81396185	81396185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtatgatccagatgcaaAtacatggacagcattgccac	16	8	8	9	0	0	2	0	1	0	1	1	3	1	3	2	1	4	3	2	1	4	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:81396185A>G	ENST00000248272.3	+	6	1217	c.1055A>G	c.(1054-1056)aAt>aGt	p.N352S		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	352					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCAGATGCAAATACATGGACA	0.403													16	88					0	0	0	0	G	81396185	A	G	81396185	3	3	510	1	0	0	0	0	1	0	0	0	6281	101	4	5	1077	5	GAN	16	81396185	Missense_Mutation	SNP	A	TCGA-WA-A7H4-01A-21D-A34J-08	8573457	81396185	8958568	80	98391											
NECAB2	54550	broad.mit.edu	37	chr16	84027968	84027968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggaagccccactcccGcctctgcccccaaccacaag	8	5	9	19	1	1	0	0	0	1	0	2	1	2	1	7	2	3	0	7	2	3	0	rs146128471	byFrequency	TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:84027968G>T	ENST00000565691.1	+	5	1131	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000305202.4_Missense_Mutation_p.A220S			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	220					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCCCACTCCCGCCTCTGCCCC	0.612													15	38					1.33834e-09	1.45091e-09	1	0	T	84027968	G	T	84027968	3	4	510	1	0	0	0	0	1	0	0	0	10375	1087	38	3	684	3	NECAB2	16	84027968	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	2631783	84027968	6326785	81	98392											
ZNF594	84622	broad.mit.edu	37	chr17	5086992	5086992	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgaagtcttttccacatTcatgacatatataaggtttc	12	16	6	7	0	2	2	1	2	1	0	4	3	3	2	1	1	0	1	1	1	4	8			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:5086992T>C	ENST00000399604.4	-	1	700	c.560A>G	c.(559-561)gAa>gGa	p.E187G	ZNF594_ENST00000575779.1_Missense_Mutation_p.E187G			Q96JF6	ZN594_HUMAN	zinc finger protein 594	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTTCCACATTCATGACATAT	0.373													16	131					0	0	0	0	C	5086992	T	C	5086992	3	2	510	1	0	0	0	0	1	0	0	0	18119	1783	62	5	1867	5	ZNF594	17	5086992	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08		5086992	76108218	82	98393											
ALDH3A2	224	broad.mit.edu	37	chr17	19578919	19578919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacctcctagtgcctctaCtgaattattcctcttttaaa	10	16	3	12	0	3	1	1	1	2	0	5	1	5	1	4	0	3	0	4	0	7	6			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:19578919C>A	ENST00000571163.1	+	3	275	c.275C>A	c.(274-276)aCt>aAt	p.T92N	ALDH3A2_ENST00000176643.6_3'UTR|ALDH3A2_ENST00000581518.1_3'UTR|ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	0					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	AGTGCCTCTACTGAATTATTC	0.328													22	118					2.37509e-13	2.59916e-13	1	0	A	19578919	C	A	19578919	3	1	510	1	0	0	0	0	1	0	0	0	498	580	20	4		4	ALDH3A2	17	19578919	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	14491927	19578919	61616291	83	98394											
LRRC37B	114659	broad.mit.edu	37	chr17	30349129	30349129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctcaaactccactgaatCatgaagtgacagttcaacct	14	10	6	11	0	3	3	3	3	0	0	4	3	4	3	2	0	3	2	2	0	5	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:30349129C>G	ENST00000327564.7	+	1	1106	c.1045C>G	c.(1045-1047)Cat>Gat	p.H349D	LRRC37B_ENST00000394713.3_Missense_Mutation_p.H322D|LRRC37B_ENST00000543378.2_Missense_Mutation_p.H240D|LRRC37B_ENST00000584368.1_Missense_Mutation_p.H334D|LRRC37B_ENST00000341671.7_Missense_Mutation_p.H322D			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	322						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCCACTGAATCATGAAGTGAC	0.493													11	183					0	0	0	0	G	30349129	C	G	30349129	3	3	510	1	0	0	0	0	1	0	0	0	9058	826	29	2	966	2	LRRC37B	17	30349129	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	10770210	30349129	50846081	84	98395											
CDK12	51755	broad.mit.edu	37	chr17	37627938	37627938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtatctgtaacagctgCtattccacacctgaaaactt	13	12	5	11	0	2	1	1	1	1	0	3	1	3	1	2	0	4	4	2	0	6	5			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:37627938C>T	ENST00000447079.4	+	2	1886	c.1853C>T	c.(1852-1854)gCt>gTt	p.A618V	CDK12_ENST00000430627.2_Missense_Mutation_p.A618V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	618					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTAACAGCTGCTATTCCACAC	0.478			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			12	168					0	0	0	0	T	37627938	C	T	37627938	3	4	510	1	0	0	0	0	1	0	0	0	3157	797	28	4	1859	4	CDK12	17	37627938	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	7278809	37627938	43567272	85	98396											
ITGB4	3691	broad.mit.edu	37	chr17	73752808	73752808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgccttcactttgagcactCccagtgccccaggcccgctg	5	8	9	19	2	1	1	1	1	0	0	2	1	2	1	6	1	2	2	6	1	0	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:73752808C>T	ENST00000200181.3	+	37	5108	c.4921C>T	c.(4921-4923)Ccc>Tcc	p.P1641S	ITGB4_ENST00000450894.3_Missense_Mutation_p.P1571S|ITGB4_ENST00000579662.1_Missense_Mutation_p.P1571S|ITGB4_ENST00000449880.2_Missense_Mutation_p.P1624S|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.P1624S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1641	Fibronectin type-III 4.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGAGCACTCCCAGTGCCCC	0.667													4	90					0	0	0	0	T	73752808	C	T	73752808	3	4	510	1	0	0	0	0	1	0	0	0	7950	855	30	2	5226	2	ITGB4	17	73752808	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	36124870	73752808	7442402	86	98397											
LPIN2	9663	broad.mit.edu	37	chr18	2924428	2924428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcaatatcagaaatgatGatcttgtcattccagttcca	13	13	5	10	0	4	3	3	2	1	1	6	3	6	3	3	0	0	1	3	0	3	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr18:2924428G>C	ENST00000261596.4	-	15	2293	c.2055C>G	c.(2053-2055)atC>atG	p.I685M		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	685	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			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)		CAGAAATGATGATCTTGTCAT	0.493													15	125					0	0	0	0	C	2924428	G	C	2924428	3	2	510	1	0	0	0	0	1	0	0	0	8983	1280	45	2	659	2	LPIN2	18	2924428	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08		2924428	75152820	87	98398											
MYO5B	4645	broad.mit.edu	37	chr18	47527697	47527697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgagccaccaacggtggcGaaatagcgcatggcatactt	11	6	12	12	4	0	0	0	0	0	0	0	2	0	0	3	3	4	2	3	3	4	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr18:47527697G>A	ENST00000285039.7	-	5	839	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	180	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAACGGTGGCGAAATAGCGCA	0.532													5	145					0	0	0	0	A	47527697	G	A	47527697	2	1	510	1	0	0	0	0	0	0	0	1	10149	1049	37	1		1	MYO5B	18	47527697	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	44603269	47527697	30549551	88	98399											
GIPC3	126326	broad.mit.edu	37	chr19	3586578	3586578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggaggacttcatctttgCccacgtgcgaggcgagacca	8	8	12	13	3	2	1	1	0	1	1	2	5	2	3	3	3	2	0	3	3	0	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:3586578C>T	ENST00000322315.5	+	2	356	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	104										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCATCTTTGCCCACGTGCGA	0.572											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	195					0	0	0	0	T	3586578	C	T	3586578	3	4	510	1	0	0	0	0	1	0	0	0	6445	739	26	4	317	4	GIPC3	19	3586578	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08		3586578	55542405	89	98400											
ZNF709	163051	broad.mit.edu	37	chr19	12575076	12575076	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaggtttctctccagtgtGagtcctttcatgtattcgaa	9	16	8	8	1	2	1	1	1	1	0	6	2	4	1	2	1	0	2	2	1	3	5			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:12575076G>C	ENST00000397732.3	-	4	1831	c.1660C>G	c.(1660-1662)Cac>Gac	p.H554D	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.H554D	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCTCCAGTGTGAGTCCTTTCA	0.428													16	267					0	0	0	0	C	12575076	G	C	12575076	3	2	510	1	0	0	0	0	1	0	0	0	18208	1290	45	2	269	2	ZNF709	19	12575076	Missense_Mutation	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	8988498	12575076	46553907	90	98401											
LPAR2	9170	broad.mit.edu	37	chr19	19737971	19737971	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaccagcacgctgacGgtcagccccagtgccaccac	10	3	10	18	2	1	1	1	1	0	0	1	1	1	1	5	1	5	4	5	1	0	0			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:19737971G>C	ENST00000542587.1	-	5	1025	c.123C>G	c.(121-123)acC>acG	p.T41T	LPAR2_ENST00000407877.3_Silent_p.T41T|LPAR2_ENST00000586703.1_Silent_p.T41T			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	41					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCACGCTGACGGTCAGCCCCA	0.592													5	52					0	0	0	0	C	19737971	G	C	19737971	2	2	510	1	0	0	0	0	0	0	0	1	8969	1103	39	3		3	LPAR2	19	19737971	Silent	SNP	G	TCGA-WA-A7H4-01A-21D-A34J-08	7162895	19737971	39391012	91	98402											
GMIP	51291	broad.mit.edu	37	chr19	19749229	19749229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatccgcttctgctccttCatccactgctccttgaactc	6	13	4	18	1	2	1	1	1	1	0	7	1	6	1	5	0	3	3	5	0	1	3			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:19749229C>T	ENST00000203556.4	-	8	737	c.600G>A	c.(598-600)atG>atA	p.M200I	GMIP_ENST00000445806.2_Missense_Mutation_p.M200I|GMIP_ENST00000587238.1_Missense_Mutation_p.M200I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	200					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTGCTCCTTCATCCACTGCT	0.597													4	42					0	0	0	0	T	19749229	C	T	19749229	3	4	510	1	0	0	0	0	1	0	0	0	6542	826	29	2	2368	2	GMIP	19	19749229	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	11258	19749229	39379754	92	98403											
ZNF626	199777	broad.mit.edu	37	chr19	20807517	20807517	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttctctccagtatgaattAtcttatgcgtagtaaggtct	9	17	8	7	1	3	1	0	1	3	0	5	1	4	1	1	1	1	4	1	1	6	6			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:20807517A>C	ENST00000601440.1	-	4	1312	c.1166T>G	c.(1165-1167)aTa>aGa	p.I389R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTATCTTATGCGT	0.383													5	134					0	0	0	0	C	20807517	A	C	20807517	3	2	510	1	0	0	0	0	1	0	0	0	18145	449	16	5	424	5	ZNF626	19	20807517	Missense_Mutation	SNP	A	TCGA-WA-A7H4-01A-21D-A34J-08	1058288	20807517	38321466	93	98404											
MAG	4099	broad.mit.edu	37	chr19	35804258	35804258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgagcccccagagctggaCctgagctattctcactcgga	8	8	12	13	1	1	3	1	2	1	1	3	5	1	5	3	3	3	2	3	3	1	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:35804258C>A	ENST00000392213.3	+	11	1941	c.1782C>A	c.(1780-1782)gaC>gaA	p.D594E	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.D569E	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	594					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAGCTGGACCTGAGCTATT	0.612													11	70					0.000673444	0.000703779	1	0	A	35804258	C	A	35804258	3	1	510	1	0	0	0	0	1	0	0	0	9227	506	18	4	1853	4	MAG	19	35804258	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	14996741	35804258	23324725	94	98405											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701757	56701757	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggcttctccttgaggctcTtcttgggaaatggaggaggc	6	12	15	8	0	3	1	0	1	3	0	4	4	3	4	1	6	0	2	1	6	1	4			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:56701757T>G	ENST00000586855.2	-	5	1240	c.927A>C	c.(925-927)gaA>gaC	p.E309D	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E309D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	309					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTGAGGCTCTTCTTGGGAAA	0.547													13	189					0	0	0	0	G	56701757	T	G	56701757	3	3	510	1	0	0	0	0	1	0	0	0	18330	1606	56	5	564	5	ZSCAN5B	19	56701757	Missense_Mutation	SNP	T	TCGA-WA-A7H4-01A-21D-A34J-08	20897499	56701757	2427226	95	98406											
BAGE2	85319	broad.mit.edu	37	chr21	11097726	11097726	+	RNA	DEL	G	G	-																															ggtggctggggccagtttcaGcgaaggcactcacacccacc																										TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr21:11097726delG	ENST00000470054.1	-	0	223									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)		GCCAGTTTCAGCGAAGGCACT	0.587													9	38	---	---	---	---					-	11097726	G	-	11097726	6	5	510	0	1	1	0	1	0	0	0	0	1296	986	34	0		0	BAGE2	21	11097726	RNA	DEL	G	TCGA-WA-A7H4-01A-21D-A34J-08		11097726	37032169	96	98407											
PCNT	5116	broad.mit.edu	37	chr21	47746457	47746457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacatttgcaaaagcacatCatgtgacgacacccctgatg	13	8	9	11	1	1	2	1	2	0	0	1	4	1	3	2	1	2	2	2	1	2	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr21:47746457C>T	ENST00000359568.5	+	2	328	c.221C>T	c.(220-222)tCa>tTa	p.S74L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	74					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAAAGCACATCATGTGACGAC	0.522													13	120					0	0	0	0	T	47746457	C	T	47746457	3	4	510	1	0	0	0	0	1	0	0	0	11661	838	29	2	227	2	PCNT	21	47746457	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08	36648731	47746457	383438	97	98408											
PPM1F	9647	broad.mit.edu	37	chr22	22277783	22277783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtagtcctcggagccCgtcagcgcccgggaagctgc	7	5	15	14	4	1	0	1	0	0	0	3	2	2	2	3	3	5	3	3	3	2	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr22:22277783C>T	ENST00000407142.1	-	6	1603	c.543G>A	c.(541-543)acG>acA	p.T181T	PPM1F_ENST00000263212.5_Silent_p.T349T|PPM1F_ENST00000538191.1_Silent_p.T245T			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	349					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCTCGGAGCCCGTCAGCGCCC	0.642													8	70					0	0	0	0	T	22277783	C	T	22277783	2	4	510	1	0	0	0	0	0	0	0	1	12415	639	23	1		1	PPM1F	22	22277783	Silent	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08		22277783	29026783	98	98409											
APOL4	80832	broad.mit.edu	37	chr22	36587485	36587485	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgtcaaaatcaagtgcaaAagaaagcacattgggtgtga	16	9	10	6	1	2	2	2	1	0	1	3	2	2	2	0	1	2	2	0	1	6	2			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr22:36587485A>G	ENST00000332987.1	-	7	1104	c.682T>C	c.(682-684)Ttt>Ctt	p.F228L	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.F231L|APOL4_ENST00000404685.3_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	232					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						TCAAGTGCAAAAGAAAGCACA	0.483													4	73					0	0	0	0	G	36587485	A	G	36587485	3	3	510	1	0	0	0	0	1	0	0	0	810	14	1	5	365	5	APOL4	22	36587485	Missense_Mutation	SNP	A	TCGA-WA-A7H4-01A-21D-A34J-08	14309702	36587485	14717081	99	98410											
G6PD	2539	broad.mit.edu	37	chrX	153762677	153762677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctctgcaggtccctccCgaagggcttctccacgatga	8	8	11	14	2	2	2	0	1	2	1	5	4	4	2	3	2	2	3	3	2	1	1			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chrX:153762677C>T	ENST00000393562.2	-	6	993	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	G6PD_ENST00000369620.2_Missense_Mutation_p.G174R|G6PD_ENST00000393564.2_Missense_Mutation_p.G174R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	174					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTCCCTCCCGAAGGGCTTC	0.617													14	44					0	0	0	0	T	153762677	C	T	153762677	3	4	510	1	0	0	0	0	1	0	0	0	6194	652	23	1	1059	1	G6PD	23	153762677	Missense_Mutation	SNP	C	TCGA-WA-A7H4-01A-21D-A34J-08		153762677	1507883	100	98411											
